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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_rs_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
LAPTM5	7805	genome.wustl.edu	37	chr1	31210526	31210526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggttatgaggcatatcCtcctggctggggaggtaatt	13	7	0	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:31210526C>T	ENST00000294507.3	-	6	605	c.531G>A	c.(529-531)gaG>gaA	p.E177E	MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	177					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCATATCCTCCTGGCTGG	0.483																																																	0								ENSG00000162511						173	149	157					1																	31210526		2203	4300	6503	LAPTM5	SO:0001819	synonymous_variant	0			-	HGNC	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.531G>A	1.37:g.31210526C>T		Somatic	0	45	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	52	21.21	Q13240|Q14698|Q3KP54	Silent	SNP							pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	p.E177	ENST00000294507.3	37	c.531	CCDS337.1	1																																																																																			-	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5		0.483	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM5	protein_coding	OTTHUMT00000010463.1	C	NM_006762	-		31210526	-1	no_errors	ENST00000294507	ensembl	human	known	74_37	silent	SNP	0.283	T	T	31210526	C	T	31210526	2	4	1	1	0	0	0	0	0	0	0	1	8628	680	24	2		2	LAPTM5	1	31210526	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		31210526	218040095	1	1											
PCSK9	255738	genome.wustl.edu	37	chr1	55523034	55523034	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggggccaccaatgcccaaGaccagccggtgaccctgggg	14	14	0	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:55523034G>T	ENST00000302118.5	+	7	1317	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	PCSK9_ENST00000490692.1_Intron|PCSK9_ENST00000543384.1_Missense_Mutation_p.D143Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	343	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CAATGCCCAAGACCAGCCGGT	0.617																																					Pancreas(137;1454 1827 5886 22361 42375)												0								ENSG00000169174						64	59	60					1																	55523034		2203	4300	6503	PCSK9	SO:0001583	missense	0			-	HGNC	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1027G>T	1.37:g.55523034G>T	ENSP00000303208:p.Asp343Tyr	Somatic	0	55	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	69	23.33	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D343Y	ENST00000302118.5	37	c.1027	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235057	0.79800	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	T;T	0.79033	-1.23;-1.23	4.13	4.13	0.48395	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.120443	0.52532	D	0.000064	D	0.88621	0.6486	M	0.83953	2.67	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.90907	0.4773	10	0.87932	D	0	-23.6123	16.5961	0.84796	0.0:0.0:1.0:0.0	.	343	Q8NBP7	PCSK9_HUMAN	Y	343;143	ENSP00000303208:D343Y;ENSP00000441859:D143Y	ENSP00000303208:D343Y	D	+	1	0	PCSK9	55295622	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.173000	0.89680	2.106000	0.64143	0.462000	0.41574	GAC	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.617	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	protein_coding	OTTHUMT00000022280.1	G	NM_174936	-		55523034	1	no_errors	ENST00000302118	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55523034	G	T	55523034	3	4	1	1	0	0	0	0	1	0	0	0	11608	942	33	3	1053	3	PCSK9	1	55523034	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	24312508	55523034	193727587	2	2											
RSBN1	54665	genome.wustl.edu	37	chr1	114308661	114308661	+	Frame_Shift_Del	DEL	T	T	-													ctggtcagagtccagtctacTttccacttttaaaactggaa							TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:114308661delT	ENST00000261441.5	-	7	2413	c.2350delA	c.(2350-2352)agtfs	p.S784fs	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	784						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		TCCAGTCTACTTTCCACTTTT	0.363																																																	0								ENSG00000081019						96	93	94					1																	114308661		2203	4300	6503	RSBN1	SO:0001589	frameshift_variant	0				HGNC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2350delA	1.37:g.114308661delT	ENSP00000261441:p.Ser784fs	Somatic	0	81	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.78	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Frame_Shift_Del	DEL							NULL	p.S784fs	ENST00000261441.5	37	c.2350	CCDS862.1	1																																																																																			-	NULL		0.363	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	protein_coding	OTTHUMT00000033022.2	T	NM_018364			114308661	-1	no_errors	ENST00000261441	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	114308661	T	-	114308661	7	5	1	1	0	1	0	1	0	0	0	0	13704	1609	56	0	62	0	RSBN1	1	114308661	Frame_Shift_Del	DEL	T	TCGA-3B-A9HI-01A-11D-A387-09	58785627	114308661	134941960	3	3											
PKLR	5313	genome.wustl.edu	37	chr1	155263113	155263113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgccggtggtacactgCggcctctgcctcccgggcaa	13	16	1	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:155263113C>T	ENST00000342741.4	-	9	1329	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	PKLR_ENST00000392414.3_Missense_Mutation_p.A400T	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	431			A -> T (in PKRD). {ECO:0000269|PubMed:9827908}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGGTACACTGCGGCCTCTGCC	0.602																																																	0			GRCh37	CM981573	PKLR	M		ENSG00000143627						63	57	59					1																	155263113		2203	4300	6503	PKLR	SO:0001583	missense	0			-	HGNC	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1291G>A	1.37:g.155263113C>T	ENSP00000339933:p.Ala431Thr	Somatic	0	65	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	114	8.80	O75758|P11973	Missense_Mutation	SNP							pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.A431T	ENST00000342741.4	37	c.1291	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894173	0.91889	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99418	-5.87;-5.87	4.54	4.54	0.55810	Pyruvate/Phosphoenolpyruvate kinase (1);Pyruvate kinase, barrel (1);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	L	0.55834	1.745	0.80722	D	1	D;P	0.54601	0.967;0.91	P;P	0.54815	0.532;0.761	D	0.98635	1.0673	10	0.48119	T	0.1	-14.7614	15.1641	0.72807	0.0:1.0:0.0:0.0	.	431;422	P30613;B1AVT1	KPYR_HUMAN;.	T	456;400;431;345	ENSP00000376214:A400T;ENSP00000339933:A431T	ENSP00000271946:A345T	A	-	1	0	PKLR	153529737	1.000000	0.71417	0.665000	0.29768	0.985000	0.73830	7.551000	0.82182	2.530000	0.85305	0.561000	0.74099	GCA	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase		0.602	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	protein_coding	OTTHUMT00000087407.2	C	NM_000298	-		155263113	-1	no_errors	ENST00000342741	ensembl	human	known	74_37	missense	SNP	0.998	T	T	155263113	C	T	155263113	3	4	1	1	0	0	0	0	1	0	0	0	11978	768	27	1	445	1	PKLR	1	155263113	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	40954452	155263113	93987508	4	4											
REN	5972	genome.wustl.edu	37	chr1	204125025	204125025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcggggagtgtagggcCctcgttacacttcacgacat	13	10	1	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:204125025C>G	ENST00000272190.8	-	9	1010	c.982G>C	c.(982-984)Ggc>Cgc	p.G328R	REN_ENST00000367195.2_Missense_Mutation_p.G325R	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	328					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTGTAGGGCCCTCGTTACAC	0.577																																																	0								ENSG00000143839						52	51	51					1																	204125025		2203	4300	6503	REN	SO:0001583	missense	0			-	HGNC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.982G>C	1.37:g.204125025C>G	ENSP00000272190:p.Gly328Arg	Somatic	0	55	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	41	43.84	Q6FI38|Q6T5C2	Missense_Mutation	SNP							pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.G328R	ENST00000272190.8	37	c.982	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	C	9.220	1.033225	0.19590	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.57107	0.42;0.42	4.24	2.31	0.28768	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.402708	0.26773	N	0.022580	T	0.17916	0.0430	N	0.00661	-1.28	0.09310	N	0.999995	P	0.36171	0.541	B	0.29716	0.106	T	0.19582	-1.0301	10	0.87932	D	0	.	8.9237	0.35628	0.0:0.742:0.0:0.258	.	328	P00797	RENI_HUMAN	R	325;247;328	ENSP00000356163:G325R;ENSP00000272190:G328R	ENSP00000272190:G328R	G	-	1	0	REN	202391648	0.974000	0.33945	0.540000	0.28089	0.020000	0.10135	3.294000	0.51787	0.764000	0.33197	0.467000	0.42956	GGC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.577	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	protein_coding	OTTHUMT00000087891.1	C	NM_000537	-		204125025	-1	no_errors	ENST00000272190	ensembl	human	known	74_37	missense	SNP	0.228	G	G	204125025	C	G	204125025	3	3	1	1	0	0	0	0	1	0	0	0	13232	623	22	4	246	4	REN	1	204125025	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	48861912	204125025	45125596	5	5											
OBSCN	84033	genome.wustl.edu	37	chr1	228451874	228451874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaggtgcaggctgaggCggggaccagtgccacgctga	19	10	0	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:228451874C>T	ENST00000422127.1	+	16	4687	c.4643C>T	c.(4642-4644)gCg>gTg	p.A1548V	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1732V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1548V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A204V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1548	Ig-like 16.				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)				CAGGCTGAGGCGGGGACCAGT	0.637																																																	0								ENSG00000154358						54	57	56					1																	228451874		2104	4224	6328	OBSCN	SO:0001583	missense	0			-	HGNC	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.4643C>T	1.37:g.228451874C>T	ENSP00000409493:p.Ala1548Val	Somatic	0	137	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	104	21.80	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A1548V	ENST00000422127.1	37	c.4643	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	1.830	-0.470123	0.04445	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.04406	3.63;3.63;3.63	4.82	-0.476	0.12100	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.570998	0.16208	N	0.224592	T	0.03695	0.0105	N	0.21194	0.64	0.09310	N	0.999999	B;B	0.18013	0.025;0.016	B;B	0.18263	0.021;0.009	T	0.40156	-0.9578	10	0.34782	T	0.22	.	11.5258	0.50580	0.0:0.5213:0.0:0.4787	.	1548;1548	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	1548;1548;204	ENSP00000284548:A1548V;ENSP00000409493:A1548V;ENSP00000352613:A204V	ENSP00000284548:A1548V	A	+	2	0	OBSCN	226518497	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-1.692000	0.01918	-0.001000	0.14495	-1.452000	0.01034	GCG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228451874	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.000	T	T	228451874	C	T	228451874	3	4	1	1	0	0	0	0	1	0	0	0	10814	768	27	1	4701	1	OBSCN	1	228451874	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	24326849	228451874	20798747	6	6											
URB2	9816	genome.wustl.edu	37	chr1	229770913	229770913	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattatctcttgatcctgCagcagcaggtcaacccaaga	8	13	2	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:229770913C>T	ENST00000258243.2	+	4	689	c.553C>T	c.(553-555)Cag>Tag	p.Q185*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	185						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTTGATCCTGCAGCAGCAGGT	0.597																																																	0								ENSG00000135763						65	56	59					1																	229770913		2203	4300	6503	URB2	SO:0001587	stop_gained	0			-	HGNC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.553C>T	1.37:g.229770913C>T	ENSP00000258243:p.Gln185*	Somatic	0	40	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5VYC9	Nonsense_Mutation	SNP							pfam_Urb2/Npa2_C	p.Q185*	ENST00000258243.2	37	c.553	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.690310	0.96793	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.68	1.08	0.20341	.	0.173913	0.48286	D	0.000190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.301	9.8499	0.41051	0.6585:0.2679:0.0:0.0736	.	.	.	.	X	185	.	.	Q	+	1	0	URB2	227837536	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.528000	0.45624	0.303000	0.22785	0.650000	0.86243	CAG	-	NULL		0.597	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	C	NM_014777	-		229770913	1	no_errors	ENST00000258243	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	229770913	C	T	229770913	4	4	1	1	0	0	0	0	0	1	0	0	17032	711	25	2	563	2	URB2	1	229770913	Nonsense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	1319039	229770913	19479708	7	7											
FMN2	56776	genome.wustl.edu	37	chr1	240371502	240371502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacccggagcgggcataccCcctcctccccctcttcccgg	8	22	1	0	rs200984130		TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr1:240371502C>T	ENST00000319653.9	+	5	3620	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1130	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.721																																																	0								ENSG00000155816						7	8	8					1																	240371502		2106	4124	6230	FMN2	SO:0001819	synonymous_variant	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3390C>T	1.37:g.240371502C>T		Somatic	0	29	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1130	ENST00000319653.9	37	c.3390	CCDS31069.2	1																																																																																			-	pfam_Formin_homology_1,smart_FH2_Formin		0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	C	XM_371352	rs200984130		240371502	1	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	SNP	0.990	T	T	240371502	C	T	240371502	2	4	1	1	0	0	0	0	0	0	0	1	5952	610	22	2		2	FMN2	1	240371502	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	10600589	240371502	8879119	8	8											
GGCX	2677	genome.wustl.edu	37	chr2	85780578	85780578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggccactcaggggagCagaagagagggctgctggcc	17	11	1	2	rs369862766		TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr2:85780578C>T	ENST00000233838.4	-	8	1012	c.932G>A	c.(931-933)tGc>tAc	p.C311Y	GGCX_ENST00000430215.3_Missense_Mutation_p.C254Y|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	311					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CTCAGGGGAGCAGAAGAGAGG	0.567																																																	0								ENSG00000115486						68	77	74					2																	85780578		2203	4300	6503	GGCX	SO:0001583	missense	0			-	HGNC		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.932G>A	2.37:g.85780578C>T	ENSP00000233838:p.Cys311Tyr	Somatic	0	12	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP							pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.C311Y	ENST00000233838.4	37	c.932	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354027	0.24512	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92048	-2.96;-2.96	5.64	5.64	0.86602	HTTM (1);	0.090482	0.85682	D	0.000000	D	0.94627	0.8268	L	0.49640	1.575	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.971	P;D;P	0.71184	0.899;0.972;0.893	D	0.94776	0.7949	10	0.66056	D	0.02	-25.0909	17.1941	0.86887	0.0:1.0:0.0:0.0	.	254;150;311	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	Y	311;254	ENSP00000233838:C311Y;ENSP00000408045:C254Y	ENSP00000233838:C311Y	C	-	2	0	GGCX	85634089	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	5.311000	0.65786	2.657000	0.90304	0.655000	0.94253	TGC	-	pfam_VKG_COase,smart_HTTM		0.567	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	protein_coding	OTTHUMT00000252490.3	C	NM_000821	-		85780578	-1	no_errors	ENST00000233838	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85780578	C	T	85780578	3	4	1	1	0	0	0	0	1	0	0	0	6358	710	25	2	1376	2	GGCX	2	85780578	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		85780578	157418795	9	9											
XIRP2	129446	genome.wustl.edu	37	chr2	168104932	168104932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgaaagttttccaggcCtccctcttcctccacctcca	4	16	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr2:168104932C>T	ENST00000409195.1	+	9	7119	c.7030C>T	c.(7030-7032)Ctc>Ttc	p.L2344F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2122F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2344F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2169					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						TTTTCCAGGCCTCCCTCTTCC	0.468																																																	0								ENSG00000163092						132	136	135					2																	168104932		1887	4108	5995	XIRP2	SO:0001583	missense	0			-	HGNC	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.7030C>T	2.37:g.168104932C>T	ENSP00000386840:p.Leu2344Phe	Somatic	0	53	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	56	21.13	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.L2344F	ENST00000409195.1	37	c.7030	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622440	0.28889	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03386	3.95;3.95;3.95	5.95	4.17	0.49024	.	0.346810	0.30781	N	0.008882	T	0.03390	0.0098	L	0.40543	1.245	0.37097	D	0.899692	B;B;B	0.29085	0.149;0.232;0.232	B;B;B	0.31442	0.061;0.13;0.13	T	0.44128	-0.9348	10	0.11794	T	0.64	-1.5753	6.5517	0.22438	0.0:0.6937:0.1483:0.1581	.	2169;2169;2122	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2344;2344;2122	ENSP00000386840:L2344F;ENSP00000295237:L2344F;ENSP00000387255:L2122F	ENSP00000295237:L2344F	L	+	1	0	XIRP2	167813178	0.198000	0.23374	0.974000	0.42286	0.799000	0.45148	1.165000	0.31822	0.864000	0.35578	0.655000	0.94253	CTC	-	NULL		0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168104932	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.921	T	T	168104932	C	T	168104932	3	4	1	1	0	0	0	0	1	0	0	0	17437	681	24	2	7060	2	XIRP2	2	168104932	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	82324354	168104932	75094441	10	10											
RARB	5915	genome.wustl.edu	37	chr3	25502747	25502747	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccccatctccacttcctcCccctcgagtgtacaaaccct	3	22	1	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr3:25502747C>G	ENST00000404969.1	+	2	242	c.242C>G	c.(241-243)cCc>cGc	p.P81R	RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.P74R|RARB_ENST00000458646.1_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	81	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCACTTCCTCCCCCTCGAGTG	0.512																																																	0								ENSG00000077092						102	105	104					3																	25502747		2203	4300	6503	RARB	SO:0001583	missense	0			-	HGNC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.242C>G	3.37:g.25502747C>G	ENSP00000385865:p.Pro81Arg	Somatic	0	44	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.P81R	ENST00000404969.1	37	c.242		3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716535	0.89205	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92858	-2.91;-3.12;-3.08	5.71	5.71	0.89125	.	0.189798	0.46758	D	0.000278	D	0.94827	0.8329	L	0.53671	1.685	0.80722	D	1	P;D	0.56746	0.95;0.977	P;P	0.62649	0.873;0.905	D	0.94550	0.7753	10	0.59425	D	0.04	.	19.9109	0.97025	0.0:1.0:0.0:0.0	.	81;74	P10826;F1D8S6	RARB_HUMAN;.	R	81;81;81;74	ENSP00000373282:P81R;ENSP00000385865:P81R;ENSP00000332296:P74R	ENSP00000332296:P74R	P	+	2	0	RARB	25477751	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.723000	0.93209	0.644000	0.83932	CCC	-	NULL		0.512	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		C	NM_000965, NM_016152	-		25502747	1	no_errors	ENST00000404969	ensembl	human	known	74_37	missense	SNP	1.000	G	G	25502747	C	G	25502747	3	3	1	1	0	0	0	0	1	0	0	0	13061	623	22	4	227	4	RARB	3	25502747	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		25502747	172519683	11	11											
GNAT1	2779	genome.wustl.edu	37	chr3	50232026	50232026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcttccttaacaagaaGgacgtcttcttcgagaagat	9	9	3	3			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr3:50232026G>T	ENST00000433068.1	+	7	857	c.801G>T	c.(799-801)aaG>aaT	p.K267N	GNAT1_ENST00000232461.3_Missense_Mutation_p.K267N	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	267					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTAACAAGAAGGACGTCTTCT	0.592											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000114349						96	89	91					3																	50232026		2203	4300	6503	GNAT1	SO:0001583	missense	0			-	HGNC		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.801G>T	3.37:g.50232026G>T	ENSP00000387555:p.Lys267Asn	Somatic	0	47	0	968	0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q4VBN2	Missense_Mutation	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.K267N	ENST00000433068.1	37	c.801	CCDS2812.1	3	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375706	0.24857	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.88975	-2.45;-2.45	5.14	1.36	0.22044	.	0.086090	0.64402	D	0.000001	D	0.85986	0.5825	L	0.54908	1.71	0.58432	D	0.999998	B	0.20459	0.045	B	0.33254	0.16	T	0.80176	-0.1491	10	0.87932	D	0	.	8.3491	0.32292	0.4036:0.0:0.5964:0.0	.	267	P11488	GNAT1_HUMAN	N	267	ENSP00000232461:K267N;ENSP00000387555:K267N	ENSP00000232461:K267N	K	+	3	2	GNAT1	50207030	1.000000	0.71417	0.991000	0.47740	0.081000	0.17604	1.241000	0.32743	0.206000	0.20587	-0.258000	0.10820	AAG	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.592	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	protein_coding	OTTHUMT00000345957.1	G	NM_000172	-		50232026	1	no_errors	ENST00000232461	ensembl	human	known	74_37	missense	SNP	0.997	T	T	50232026	G	T	50232026	3	4	1	1	0	0	0	0	1	0	0	0	6513	991	35	3	827	3	GNAT1	3	50232026	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	24729279	50232026	147790404	12	12											
ZNF518B	85460	genome.wustl.edu	37	chr4	10447066	10447066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatttggctcagacaggGtcattttatttggaatacaa	8	7	3	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr4:10447066G>T	ENST00000326756.3	-	3	1325	c.887C>A	c.(886-888)aCc>aAc	p.T296N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	296					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						CTCAGACAGGGTCATTTTATT	0.368																																																	0								ENSG00000178163						170	168	168					4																	10447066		2203	4300	6503	ZNF518B	SO:0001583	missense	0			-	HGNC	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.887C>A	4.37:g.10447066G>T	ENSP00000317614:p.Thr296Asn	Somatic	0	39	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q96LN8	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T296N	ENST00000326756.3	37	c.887	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688588	0.68271	.	.	ENSG00000178163	ENST00000326756	T	0.01947	4.54	5.95	3.14	0.36123	.	1.067400	0.07327	N	0.878528	T	0.03915	0.0110	L	0.43152	1.355	0.09310	N	1	B	0.32245	0.361	B	0.29942	0.109	T	0.49153	-0.8969	10	0.59425	D	0.04	-1.7487	15.4749	0.75471	0.0:0.455:0.545:0.0	.	296	Q9C0D4	Z518B_HUMAN	N	296	ENSP00000317614:T296N	ENSP00000317614:T296N	T	-	2	0	ZNF518B	10056164	0.000000	0.05858	0.001000	0.08648	0.966000	0.64601	0.386000	0.20702	0.795000	0.33922	0.655000	0.94253	ACC	-	NULL		0.368	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	protein_coding	OTTHUMT00000359040.1	G	NM_053042	-		10447066	-1	no_errors	ENST00000326756	ensembl	human	known	74_37	missense	SNP	0.001	T	T	10447066	G	T	10447066	3	4	1	1	0	0	0	0	1	0	0	0	17970	1261	44	3	2341	3	ZNF518B	4	10447066	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09		10447066	180707210	13	13											
SLC9A3	6550	genome.wustl.edu	37	chr5	482667	482667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgggcctcacctggAagatgacggtgaagaacact	14	10	1	4			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:482667A>T	ENST00000264938.3	-	7	1361	c.1352T>A	c.(1351-1353)tTc>tAc	p.F451Y	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.F451Y	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	451					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCTCACCTGGAAGATGACGGT	0.627																																																	0								ENSG00000066230						87	77	81					5																	482667		2203	4300	6503	SLC9A3	SO:0001583	missense	0			-	HGNC		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1352T>A	5.37:g.482667A>T	ENSP00000264938:p.Phe451Tyr	Somatic	0	124	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	163	9.39	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP							pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F451Y	ENST00000264938.3	37	c.1352	CCDS3855.1	5	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283365	0.59867	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.16196	2.42;2.36	4.13	4.13	0.48395	Cation/H+ exchanger (1);	0.336489	0.32518	N	0.005996	T	0.32763	0.0840	M	0.85041	2.73	0.43160	D	0.994949	P;D	0.53619	0.737;0.961	P;P	0.48770	0.524;0.589	T	0.41288	-0.9517	10	0.72032	D	0.01	.	12.8099	0.57634	1.0:0.0:0.0:0.0	.	451;451	E9PF67;P48764	.;SL9A3_HUMAN	Y	451	ENSP00000264938:F451Y;ENSP00000422983:F451Y	ENSP00000264938:F451Y	F	-	2	0	SLC9A3	535667	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	7.187000	0.77730	1.497000	0.48584	0.459000	0.35465	TTC	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.627	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	protein_coding	OTTHUMT00000206677.2	A	NM_004174	-		482667	-1	no_errors	ENST00000264938	ensembl	human	known	74_37	missense	SNP	0.992	T	T	482667	A	T	482667	3	4	1	1	0	0	0	0	1	0	0	0	14721	246	9	5	1196	5	SLC9A3	5	482667	Missense_Mutation	SNP	A	TCGA-3B-A9HI-01A-11D-A387-09		482667	180432593	14	14											
AGGF1	55109	genome.wustl.edu	37	chr5	76332520	76332520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactggactgtattttgaccAcagcactggtttctattatg	8	8	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:76332520A>G	ENST00000312916.7	+	4	1038	c.656A>G	c.(655-657)cAc>cGc	p.H219R		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	219					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TATTTTGACCACAGCACTGGT	0.423																																																	0								ENSG00000164252						55	55	55					5																	76332520		2203	4300	6503	AGGF1	SO:0001583	missense	0			-	HGNC	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.656A>G	5.37:g.76332520A>G	ENSP00000316109:p.His219Arg	Somatic	0	50	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP							pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.H219R	ENST00000312916.7	37	c.656	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566395	0.86439	.	.	ENSG00000164252	ENST00000312916	D	0.85702	-2.02	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	L	0.39147	1.195	0.80722	D	1	D	0.57257	0.979	P	0.58873	0.847	D	0.85965	0.1473	9	.	.	.	-1.138	14.6704	0.68939	1.0:0.0:0.0:0.0	.	219	Q8N302	AGGF1_HUMAN	R	219	ENSP00000316109:H219R	.	H	+	2	0	AGGF1	76368276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.587000	0.74071	1.868000	0.54150	0.477000	0.44152	CAC	-	NULL		0.423	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	protein_coding	OTTHUMT00000219971.2	A	NM_018046	-		76332520	1	no_errors	ENST00000312916	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76332520	A	G	76332520	3	3	1	1	0	0	0	0	1	0	0	0	382	159	6	5	670	5	AGGF1	5	76332520	Missense_Mutation	SNP	A	TCGA-3B-A9HI-01A-11D-A387-09	75849853	76332520	104582740	15	15											
PCDHA6	56142	genome.wustl.edu	37	chr5	140209098	140209098	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacccgccgggctgccacatCttcacggtgtctgcgcgaga	12	15	3	1	rs146722468	byFrequency	TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:140209098C>T	ENST00000529310.1	+	1	1536	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.I474I|PCDHA4_ENST00000512229.2_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	474	Cadherin 5. {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)			GCTGCCACATCTTCACGGTGT	0.647													.|||	3	0.000599042	0.0023	0	5008	,	,		19262	0		0	False		,,,				2504	0																0								ENSG00000081842	C	,,,,,,,,	28,4374		0,28,2173	41	49	47		,,,,,1422,,1422,1422	1.8	1	5	dbSNP_134	47	0,8580		0,0,4290	no	intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous	PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_031411.1,NM_031848.1,NM_031849.1	,,,,,,,,	0,28,6463	TT,TC,CC		0.0,0.6361,0.2157	,,,,,,,,	,,,,,474/951,,474/804,474/687	140209098	28,12954	2201	4290	6491	PCDHA6	SO:0001819	synonymous_variant	0			-	HGNC	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.1422C>T	5.37:g.140209098C>T		Somatic	0	284	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	261	20.18	O75283|Q9NRT8	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I474	ENST00000529310.1	37	c.1422	CCDS47281.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.647	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	C	NM_018909	rs146722468		140209098	1	no_errors	ENST00000529310	ensembl	human	known	74_37	silent	SNP	0.998	T	T	140209098	C	T	140209098	2	4	1	1	0	0	0	0	0	0	0	1	11530	903	32	2		2	PCDHA6	5	140209098	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	63876578	140209098	40706162	16	16											
HAVCR1	26762	genome.wustl.edu	37	chr5	156482487	156482487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctccactgtagtggcagGgtagtgtgacagatggacct	14	9	0	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:156482487G>T	ENST00000339252.3	-	2	636	c.104C>A	c.(103-105)cCc>cAc	p.P35H	HAVCR1_ENST00000523175.1_Missense_Mutation_p.P35H|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P35H|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P35H|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P35H	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGGCAGGGTAGTGTGAC	0.473																																																	0								ENSG00000113249						64	64	64					5																	156482487		1965	4155	6120	HAVCR1	SO:0001583	missense	0			-	HGNC	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.104C>A	5.37:g.156482487G>T	ENSP00000344844:p.Pro35His	Somatic	0	35	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	65	19.75	O43656	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P35H	ENST00000339252.3	37	c.104	CCDS43392.1	5	.	.	.	.	.	.	.	.	.	.	G	14.29	2.489915	0.44249	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.44	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220169	0.37483	N	0.002070	D	0.84977	0.5592	M	0.92880	3.355	0.38153	D	0.938817	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89563	0.3808	10	0.87932	D	0	-18.1586	13.1496	0.59482	0.0784:0.0:0.9216:0.0	.	35;35	F1CME6;Q96D42	.;HAVR1_HUMAN	H	35	ENSP00000428524:P35H;ENSP00000427898:P35H;ENSP00000344844:P35H;ENSP00000403333:P35H;ENSP00000440258:P35H;ENSP00000428422:P35H	ENSP00000344844:P35H	P	-	2	0	HAVCR1	156415065	1.000000	0.71417	0.018000	0.16275	0.007000	0.05969	3.345000	0.52182	1.298000	0.44778	0.650000	0.86243	CCC	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR1	protein_coding	OTTHUMT00000373698.1	G		-		156482487	-1	no_errors	ENST00000425854	ensembl	human	known	74_37	missense	SNP	0.958	T	T	156482487	G	T	156482487	3	4	1	1	0	0	0	0	1	0	0	0	6975	1232	43	3	1018	3	HAVCR1	5	156482487	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	16273389	156482487	24432773	17	17											
RARS	5917	genome.wustl.edu	37	chr5	167929104	167929104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atattgtaaaggaatttgaaGatagaggtaggcactcttct	10	4	2	3			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:167929104G>C	ENST00000231572.3	+	9	1105	c.1051G>C	c.(1051-1053)Gat>Cat	p.D351H	RARS_ENST00000538719.1_Missense_Mutation_p.D145H	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	351					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGAATTTGAAGATAGAGGTAG	0.318																																																	0								ENSG00000113643						89	97	95					5																	167929104		2203	4296	6499	RARS	SO:0001583	missense	0			-	HGNC	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1051G>C	5.37:g.167929104G>C	ENSP00000231572:p.Asp351His	Somatic	0	66	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	63	14.67	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP							pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.D351H	ENST00000231572.3	37	c.1051	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069120	0.55539	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.66280	-0.15;-0.2	5.14	4.22	0.49857	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.345825	0.36665	N	0.002480	T	0.66636	0.2809	M	0.64404	1.975	0.47905	D	0.999548	P	0.36110	0.537	P	0.45506	0.483	T	0.67150	-0.5743	10	0.46703	T	0.11	-3.3726	12.9631	0.58470	0.0838:0.0:0.9162:0.0	.	351	P54136	SYRC_HUMAN	H	351;145	ENSP00000231572:D351H;ENSP00000439108:D145H	ENSP00000231572:D351H	D	+	1	0	RARS	167861682	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.843000	0.69424	1.195000	0.43115	-0.345000	0.07892	GAT	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia		0.318	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	protein_coding	OTTHUMT00000252794.2	G	NM_002887	-		167929104	1	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	SNP	1.000	C	C	167929104	G	C	167929104	3	2	1	1	0	0	0	0	1	0	0	0	13066	942	33	4	1085	4	RARS	5	167929104	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	11446617	167929104	12986156	18	18											
ERGIC1	57222	genome.wustl.edu	37	chr5	172362219	172362219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctacagccacacgggccGcatcatccctgcaatctggt	9	17	2	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:172362219G>A	ENST00000393784.3	+	9	810	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	224					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACACGGGCCGCATCATCCCT	0.567																																																	0								ENSG00000113719						91	85	87					5																	172362219		2203	4300	6503	ERGIC1	SO:0001583	missense	0			-	HGNC	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.671G>A	5.37:g.172362219G>A	ENSP00000377374:p.Arg224His	Somatic	0	78	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	161	15.62	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP							pfam_Erv_C	p.R224H	ENST00000393784.3	37	c.671	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.678263	0.96764	.	.	ENSG00000113719	ENST00000393784	.	.	.	5.88	5.88	0.94601	Domain of unknown function DUF1692 (1);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	L	0.39085	1.19	0.80722	D	1	D;D	0.76494	0.971;0.999	P;D	0.66847	0.541;0.947	T	0.57046	-0.7878	9	0.15499	T	0.54	-38.5207	19.8311	0.96636	0.0:0.0:1.0:0.0	.	169;224	B4E0N6;Q969X5	.;ERGI1_HUMAN	H	224	.	ENSP00000377374:R224H	R	+	2	0	ERGIC1	172294825	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.141000	0.94612	2.790000	0.95986	0.591000	0.81541	CGC	-	pfam_Erv_C		0.567	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	protein_coding	OTTHUMT00000252938.3	G	NM_020462	-		172362219	1	no_errors	ENST00000393784	ensembl	human	known	74_37	missense	SNP	1.000	A	A	172362219	G	A	172362219	3	1	1	1	0	0	0	0	1	0	0	0	5225	1087	38	1	705	1	ERGIC1	5	172362219	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	4433115	172362219	8553041	19	19											
RASGEF1C	255426	genome.wustl.edu	37	chr5	179564684	179564684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcgatgaagaggcgagagCtcagcaggaaggtgaagatg	17	6	1	5			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr5:179564684C>A	ENST00000393371.2	-	2	502	c.206G>T	c.(205-207)aGc>aTc	p.S69I	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S69I			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	69	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-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;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCGAGAGCTCAGCAGGAA	0.642																																																	0								ENSG00000146090						46	41	43					5																	179564684		2202	4300	6502	RASGEF1C	SO:0001583	missense	0			-	HGNC	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.206G>T	5.37:g.179564684C>A	ENSP00000377037:p.Ser69Ile	Somatic	0	26	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S69I	ENST00000393371.2	37	c.206	CCDS4452.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377846	0.82682	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.51071	0.72;0.72	4.05	4.05	0.47172	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.88105	2.93	0.80722	D	1	D	0.58970	0.984	D	0.71184	0.972	T	0.78999	-0.1982	10	0.62326	D	0.03	.	15.1598	0.72775	0.0:1.0:0.0:0.0	.	69	Q8N431	RGF1C_HUMAN	I	69	ENSP00000354963:S69I;ENSP00000377037:S69I	ENSP00000354963:S69I	S	-	2	0	RASGEF1C	179497290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.282000	0.65615	1.996000	0.58369	0.511000	0.50034	AGC	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.642	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	protein_coding	OTTHUMT00000253506.2	C	NM_175062	-		179564684	-1	no_errors	ENST00000361132	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179564684	C	A	179564684	3	1	1	1	0	0	0	0	1	0	0	0	13079	797	28	3	1242	3	RASGEF1C	5	179564684	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	7202465	179564684	1350576	20	20											
SYCP2L	221711	genome.wustl.edu	37	chr6	10930660	10930660	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaagattcaagtaccagtGaactatcttggaccagtaac	7	9	3	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr6:10930660G>T	ENST00000283141.6	+	19	1842	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	516						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAGTACCAGTGAACTATCTTG	0.353																																																	0								ENSG00000153157						78	73	75					6																	10930660		1812	4076	5888	SYCP2L	SO:0001587	stop_gained	0			-	HGNC	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1546G>T	6.37:g.10930660G>T	ENSP00000283141:p.Glu516*	Somatic	0	48	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Nonsense_Mutation	SNP							NULL	p.E516*	ENST00000283141.6	37	c.1546	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.321752	0.97471	.	.	ENSG00000153157	ENST00000283141	.	.	.	5.39	4.52	0.55395	.	0.185865	0.43579	D	0.000560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-3.8589	10.4185	0.44335	0.0903:0.0:0.9097:0.0	.	.	.	.	X	516	.	ENSP00000283141:E516X	E	+	1	0	SYCP2L	11038646	0.998000	0.40836	0.803000	0.32268	0.044000	0.14063	2.576000	0.46033	1.408000	0.46895	-0.145000	0.13849	GAA	-	NULL		0.353	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	protein_coding	OTTHUMT00000039845.3	G	NM_194299	-		10930660	1	no_errors	ENST00000283141	ensembl	human	known	74_37	nonsense	SNP	0.925	T	T	10930660	G	T	10930660	4	4	1	1	0	0	0	0	0	1	0	0	15440	1291	45	3	1620	3	SYCP2L	6	10930660	Nonsense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09		10930660	160184407	21	21											
C6orf97	80129	genome.wustl.edu	37	chr6	151869618	151869618	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgaagagaaagagaagctGaaccaggtatgatatgtgaa	12	4	0	6			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr6:151869618G>T	ENST00000239374.7	+	5	867	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CCDC170_ENST00000367290.5_Silent_p.L256L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	256																	AAGAGAAGCTGAACCAGGTAT	0.448																																																	0								ENSG00000120262						47	47	47					6																	151869618		1978	4165	6143	CCDC170	SO:0001819	synonymous_variant	0			-	HGNC	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.768G>T	6.37:g.151869618G>T		Somatic	0	24	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP							superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.L256	ENST00000239374.7	37	c.768	CCDS43515.1	6																																																																																			-	NULL		0.448	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	protein_coding	OTTHUMT00000042727.2	G	NM_025059	-		151869618	1	no_errors	ENST00000367290	ensembl	human	known	74_37	silent	SNP	0.138	T	T	151869618	G	T	151869618	2	4	1	1	0	0	0	0	0	0	0	1	2376	1277	45	3		3	C6orf97	6	151869618	Silent	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	140938958	151869618	19245449	22	22											
COL28A1	340267	genome.wustl.edu	37	chr7	7571327	7571327	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttaaatgtctgcaggtccttCcaggaagaaaaaggtggatc	11	7	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr7:7571327C>G	ENST00000399429.3	-	3	473	c.333G>C	c.(331-333)tgG>tgC	p.W111C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	111	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GCAGGTCCTTCCAGGAAGAAA	0.428																																																	0								ENSG00000215018						66	63	64					7																	7571327		1879	4116	5995	COL28A1	SO:0001583	missense	0			-	HGNC	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.333G>C	7.37:g.7571327C>G	ENSP00000382356:p.Trp111Cys	Somatic	0	23	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP							pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.W111C	ENST00000399429.3	37	c.333	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125710	0.56721	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	T	0.54071	0.59	4.2	4.2	0.49525	von Willebrand factor, type A (3);	0.184547	0.38663	U	0.001619	T	0.70701	0.3254	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75068	-0.3448	10	0.72032	D	0.01	-3.1347	16.6996	0.85345	0.0:1.0:0.0:0.0	.	111	Q2UY09	COSA1_HUMAN	C	111	ENSP00000382356:W111C	ENSP00000382347:W111C	W	-	3	0	COL28A1	7537852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.080000	0.64437	2.358000	0.79984	0.655000	0.94253	TGG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.428	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	protein_coding	OTTHUMT00000315899.1	C	NM_001037763	-		7571327	-1	no_errors	ENST00000399429	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7571327	C	G	7571327	3	3	1	1	0	0	0	0	1	0	0	0	3688	856	30	4	3176	4	COL28A1	7	7571327	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		7571327	151567336	23	23											
POM121L12	285877	genome.wustl.edu	37	chr7	53103958	53103958	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgacgggccgttgtggttCgaggtctcagacagcaaggg	16	9	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr7:53103958C>T	ENST00000408890.4	+	1	610	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	198								p.F198F(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTTGTGGTTCGAGGTCTCAG	0.667																																																	2	Substitution - coding silent(2)	prostate(1)|kidney(1)						ENSG00000221900						49	58	55					7																	53103958		1981	4145	6126	POM121L12	SO:0001819	synonymous_variant	0			-	HGNC		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.594C>T	7.37:g.53103958C>T		Somatic	0	80	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	199	13.42	Q8NDI9	Silent	SNP							NULL	p.F198	ENST00000408890.4	37	c.594	CCDS43584.1	7																																																																																			-	NULL		0.667	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	protein_coding	OTTHUMT00000342656.1	C	NM_182595	-		53103958	1	no_errors	ENST00000408890	ensembl	human	known	74_37	silent	SNP	0.001	T	T	53103958	C	T	53103958	2	4	1	1	0	0	0	0	0	0	0	1	12243	883	31	1		1	POM121L12	7	53103958	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	45532631	53103958	106034705	24	24											
CCDC146	57639	genome.wustl.edu	37	chr7	76912006	76912006	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatccaattcctgaaaatGaagattgctgagaagcaaag	9	6	0	5			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr7:76912006G>A	ENST00000285871.4	+	15	2179	c.2052G>A	c.(2050-2052)atG>atA	p.M684I	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.M398I	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	684										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCCTGAAAATGAAGATTGCTG	0.378																																																	0								ENSG00000135205						65	63	64					7																	76912006		2203	4300	6503	CCDC146	SO:0001583	missense	0			-	HGNC	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2052G>A	7.37:g.76912006G>A	ENSP00000285871:p.Met684Ile	Somatic	0	54	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	85	13.27	A8K8X6|Q9P223	Missense_Mutation	SNP							NULL	p.M684I	ENST00000285871.4	37	c.2052	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751278	0.31046	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.39229	1.09;1.09	5.24	2.34	0.29019	.	0.347798	0.30101	N	0.010408	T	0.21841	0.0526	N	0.11818	0.18	0.28364	N	0.920321	B;B	0.10296	0.001;0.003	B;B	0.13407	0.001;0.009	T	0.12915	-1.0529	10	0.30854	T	0.27	-1.9993	7.902	0.29740	0.1355:0.2557:0.6088:0.0	.	398;684	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	I	684;398	ENSP00000285871:M684I;ENSP00000413885:M398I	ENSP00000285871:M684I	M	+	3	0	AC007000.1	76749942	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	0.926000	0.28804	0.674000	0.31244	0.655000	0.94253	ATG	-	NULL		0.378	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	protein_coding	OTTHUMT00000341449.1	G	NM_020879	-		76912006	1	no_errors	ENST00000285871	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76912006	G	A	76912006	3	1	1	1	0	0	0	0	1	0	0	0	2782	1290	45	2	2106	2	CCDC146	7	76912006	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	23808048	76912006	82226657	25	25											
ZNF467	168544	genome.wustl.edu	37	chr7	149461979	149461979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggggcgggagcctgTgtggatcgcctggtggcgga	22	7	0	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr7:149461979T>C	ENST00000302017.3	-	5	2025	c.1612A>G	c.(1612-1614)Aca>Gca	p.T538A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGAGCCTGTGTGGATCGCC	0.692																																																	0								ENSG00000181444						38	45	43					7																	149461979		2190	4294	6484	ZNF467	SO:0001583	missense	0			-	HGNC	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1612A>G	7.37:g.149461979T>C	ENSP00000304769:p.Thr538Ala	Somatic	0	132	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	178	14.42		Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T538A	ENST00000302017.3	37	c.1612	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688601	0.68271	.	.	ENSG00000181444	ENST00000302017	T	0.26518	1.73	3.82	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.525079	0.14054	U	0.344514	T	0.36166	0.0957	L	0.56124	1.755	0.36801	D	0.885332	D	0.55605	0.972	P	0.51615	0.675	T	0.46541	-0.9184	10	0.87932	D	0	-5.034	12.4249	0.55540	0.0:0.0:0.0:1.0	.	538	Q7Z7K2	ZN467_HUMAN	A	538	ENSP00000304769:T538A	ENSP00000304769:T538A	T	-	1	0	ZNF467	149092912	0.992000	0.36948	0.981000	0.43875	0.980000	0.70556	1.113000	0.31184	1.619000	0.50296	0.379000	0.24179	ACA	-	pfscan_Znf_C2H2		0.692	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	protein_coding	OTTHUMT00000349833.1	T	NM_207336	-		149461979	-1	no_errors	ENST00000302017	ensembl	human	known	74_37	missense	SNP	1.000	C	C	149461979	T	C	149461979	3	2	1	1	0	0	0	0	1	0	0	0	17934	1696	59	5	179	5	ZNF467	7	149461979	Missense_Mutation	SNP	T	TCGA-3B-A9HI-01A-11D-A387-09	72549973	149461979	9676684	26	26											
JPH1	56704	genome.wustl.edu	37	chr8	75227796	75227796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccatgccgtagggcaCgctctggcgcacgccgtagc	15	15	1	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr8:75227796C>T	ENST00000342232.4	-	2	479	c.439G>A	c.(439-441)Gtg>Atg	p.V147M		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	147					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGTAGGGCACGCTCTGGCGC	0.687																																																	0								ENSG00000104369																																			JPH1	SO:0001583	missense	0			-	HGNC	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.439G>A	8.37:g.75227796C>T	ENSP00000344488:p.Val147Met	Somatic	0	20	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B2RTZ0	Missense_Mutation	SNP							pfam_MORN,smart_MORN,pirsf_Junctophilin	p.V147M	ENST00000342232.4	37	c.439	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973072	0.74246	.	.	ENSG00000104369	ENST00000342232	T	0.61274	0.12	4.41	3.51	0.40186	.	0.064431	0.64402	D	0.000008	T	0.55970	0.1954	L	0.56124	1.755	0.80722	D	1	P	0.39094	0.659	B	0.41894	0.369	T	0.58109	-0.7694	10	0.46703	T	0.11	.	13.5767	0.61879	0.1568:0.8432:0.0:0.0	.	147	Q9HDC5	JPH1_HUMAN	M	147	ENSP00000344488:V147M	ENSP00000344488:V147M	V	-	1	0	JPH1	75390351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	1.027000	0.39758	0.563000	0.77884	GTG	-	smart_MORN,pirsf_Junctophilin		0.687	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	protein_coding	OTTHUMT00000379102.1	C		-		75227796	-1	no_errors	ENST00000342232	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75227796	C	T	75227796	3	4	1	1	0	0	0	0	1	0	0	0	7962	536	19	1	1562	1	JPH1	8	75227796	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		75227796	71136226	27	27											
KIAA1429	25962	genome.wustl.edu	37	chr8	95522827	95522827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaacatgaaggtgcatGctccacaattttcgggtgtt	11	8	0	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr8:95522827G>T	ENST00000297591.5	-	14	3519	c.3444C>A	c.(3442-3444)agC>agA	p.S1148R	KIAA1429_ENST00000523405.1_Intron|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S1148R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1148					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAAGGTGCATGCTCCACAATT	0.393																																																	0								ENSG00000164944						131	116	121					8																	95522827		2203	4300	6503	KIAA1429	SO:0001583	missense	0			-	HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3444C>A	8.37:g.95522827G>T	ENSP00000297591:p.Ser1148Arg	Somatic	0	27	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.S1148R	ENST00000297591.5	37	c.3444	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757614	0.49468	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.68331	-0.32;-0.32	5.75	3.93	0.45458	.	0.039297	0.85682	D	0.000000	T	0.75339	0.3836	M	0.69358	2.11	0.58432	D	0.999994	D	0.69078	0.997	P	0.62184	0.899	T	0.77048	-0.2732	10	0.87932	D	0	-9.894	10.2337	0.43270	0.233:0.0:0.767:0.0	.	1148	Q69YN4	VIR_HUMAN	R	1148	ENSP00000297591:S1148R;ENSP00000395600:S1148R	ENSP00000297591:S1148R	S	-	3	2	KIAA1429	95592003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.244000	0.43124	2.716000	0.92895	0.650000	0.86243	AGC	-	NULL		0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	G	NM_015496	-		95522827	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95522827	G	T	95522827	3	4	1	1	0	0	0	0	1	0	0	0	8233	1310	46	3	2038	3	KIAA1429	8	95522827	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	20295031	95522827	50841195	28	28											
KIAA1274	27143	genome.wustl.edu	37	chr10	72294546	72294546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgacctgaaagaagtgGtcttggaaaaccagaagaag	12	6	1	5			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr10:72294546G>T	ENST00000263563.6	+	10	1442	c.1174G>T	c.(1174-1176)Gtc>Ttc	p.V392F		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	392						cytosol (GO:0005829)											GAAAGAAGTGGTCTTGGAAAA	0.577																																																	0								ENSG00000107719						74	69	71					10																	72294546		2203	4300	6503	PALD1	SO:0001583	missense	0			-	HGNC	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1174G>T	10.37:g.72294546G>T	ENSP00000263563:p.Val392Phe	Somatic	0	22	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP							smart_Tyr_Pase_cat	p.V392F	ENST00000263563.6	37	c.1174	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408315	0.42715	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27402	1.67	5.34	1.39	0.22231	.	0.330987	0.32548	N	0.005948	T	0.33177	0.0854	M	0.72118	2.19	0.22541	N	0.999004	P	0.48089	0.905	P	0.46452	0.517	T	0.23226	-1.0194	10	0.87932	D	0	-17.4796	5.0177	0.14345	0.3369:0.2597:0.4035:0.0	.	392	Q9ULE6	PALD_HUMAN	F	392	ENSP00000263563:V392F	ENSP00000263563:V392F	V	+	1	0	KIAA1274	71964552	0.763000	0.28462	0.000000	0.03702	0.537000	0.34900	1.320000	0.33666	0.056000	0.16144	-0.244000	0.11960	GTC	-	NULL		0.577	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	protein_coding	OTTHUMT00000048515.2	G	NM_014431	-		72294546	1	no_errors	ENST00000263563	ensembl	human	known	74_37	missense	SNP	0.181	T	T	72294546	G	T	72294546	3	4	1	1	0	0	0	0	1	0	0	0	8222	1261	44	3	1208	3	KIAA1274	10	72294546	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09		72294546	63240201	29	29											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111630550	111630550	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgttttgtaactgatgccGcaaggaccctcatggacatt	9	9	1	1	rs143796899		TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr10:111630550G>T	ENST00000502935.1	-	18	1754	c.1635C>A	c.(1633-1635)tgC>tgA	p.C545*	XPNPEP1_ENST00000369683.1_Nonsense_Mutation_p.C431*|XPNPEP1_ENST00000369680.4_Nonsense_Mutation_p.C502*|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000322238.8_Nonsense_Mutation_p.C521*					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																																	4	Substitution - coding silent(4)	lung(4)						ENSG00000108039						174	154	161					10																	111630550		2203	4300	6503	XPNPEP1	SO:0001587	stop_gained	0			-	HGNC		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>A	10.37:g.111630550G>T	ENSP00000421566:p.Cys545*	Somatic	0	24	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67		Nonsense_Mutation	SNP							pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.C545*	ENST00000502935.1	37	c.1635	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	39	7.333912	0.98217	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	5.66	-2.1	0.07210	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.5998	10.8238	0.46620	0.598:0.0:0.402:0.0	.	.	.	.	X	545;431;521;502	.	ENSP00000324011:C521X	C	-	3	2	XPNPEP1	111620540	0.918000	0.31147	0.997000	0.53966	0.959000	0.62525	0.194000	0.17135	-0.106000	0.12110	-0.948000	0.02665	TGC	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	G		-		111630550	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	nonsense	SNP	0.993	T	T	111630550	G	T	111630550	4	4	1	1	0	0	0	0	0	1	0	0	17449	1079	38	3	381	3	XPNPEP1	10	111630550	Nonsense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	39336004	111630550	23904197	30	30											
OR56A3	390083	genome.wustl.edu	37	chr11	5969021	5969021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactttgtagtcaaggctGccatgtttattttgaccaga	8	8	2	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr11:5969021G>A	ENST00000329564.6	+	1	452	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCAAGGCTGCCATGTTTAT	0.438																																																	0								ENSG00000184478						147	146	147					11																	5969021		2198	4296	6494	OR56A3	SO:0001583	missense	0			-	HGNC		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.445G>A	11.37:g.5969021G>A	ENSP00000331572:p.Ala149Thr	Somatic	0	39	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A6NN77|Q6IFF7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A149T	ENST00000329564.6	37	c.445	CCDS41614.1	11	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.329991	0.00227	.	.	ENSG00000184478	ENST00000329564	T	0.37752	1.18	5.13	0.0787	0.14413	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31257	U	0.007979	T	0.22475	0.0542	N	0.25426	0.745	0.09310	N	1	B	0.13145	0.007	B	0.20767	0.031	T	0.17440	-1.0369	10	0.59425	D	0.04	-5.1715	7.6668	0.28437	0.2149:0.0:0.6697:0.1154	.	149	Q8NH54	O56A3_HUMAN	T	149	ENSP00000331572:A149T	ENSP00000331572:A149T	A	+	1	0	OR56A3	5925597	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.141000	0.10327	-0.128000	0.11641	-0.850000	0.03035	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.438	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	protein_coding	OTTHUMT00000383753.1	G	NM_001003443	-		5969021	1	no_errors	ENST00000329564	ensembl	human	known	74_37	missense	SNP	0.000	A	A	5969021	G	A	5969021	3	1	1	1	0	0	0	0	1	0	0	0	11136	1319	46	2	447	2	OR56A3	11	5969021	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09		5969021	129037495	31	31											
SLC17A6	57084	genome.wustl.edu	37	chr11	22391670	22391670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcagaagctggacttTttatttattgcttattagtc	7	7	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr11:22391670T>C	ENST00000263160.3	+	8	1414	c.977T>C	c.(976-978)tTt>tCt	p.F326S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	326					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGCTGGACTTTTTATTTATTG	0.318																																																	0								ENSG00000091664						71	72	71					11																	22391670		2202	4297	6499	SLC17A6	SO:0001583	missense	0			-	HGNC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.977T>C	11.37:g.22391670T>C	ENSP00000263160:p.Phe326Ser	Somatic	0	77	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	95	19.49	A6NKS2	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F326S	ENST00000263160.3	37	c.977	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726737	0.89298	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.60040	0.22	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.82433	2.59	0.80722	D	1	D	0.57257	0.979	D	0.63957	0.92	T	0.80850	-0.1198	10	0.87932	D	0	.	15.7332	0.77822	0.0:0.0:0.0:1.0	.	326	Q9P2U8	VGLU2_HUMAN	S	326;214	ENSP00000263160:F326S	ENSP00000263160:F326S	F	+	2	0	SLC17A6	22348246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.182000	0.69389	0.482000	0.46254	TTT	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.318	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	protein_coding	OTTHUMT00000387671.1	T	NM_020346	-		22391670	1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	SNP	1.000	C	C	22391670	T	C	22391670	3	2	1	1	0	0	0	0	1	0	0	0	14429	1841	64	5	1007	5	SLC17A6	11	22391670	Missense_Mutation	SNP	T	TCGA-3B-A9HI-01A-11D-A387-09	16422649	22391670	112614846	32	32											
FBXO3	26273	genome.wustl.edu	37	chr11	33773135	33773135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgacataagaggtaaacCagtcagtaaaagtagcacct	8	7	1	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr11:33773135C>T	ENST00000265651.3	-	7	761	c.743G>A	c.(742-744)tGg>tAg	p.W248*	FBXO3_ENST00000534136.1_Nonsense_Mutation_p.W248*|FBXO3_ENST00000526785.1_Nonsense_Mutation_p.W135*|FBXO3_ENST00000530401.1_Nonsense_Mutation_p.W243*|FBXO3_ENST00000448981.2_Nonsense_Mutation_p.W248*|FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000532057.1_5'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	248					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGAGGTAAACCAGTCAGTAAA	0.328																																																	0								ENSG00000110429						66	67	67					11																	33773135		2202	4297	6499	FBXO3	SO:0001587	stop_gained	0			-	HGNC	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.743G>A	11.37:g.33773135C>T	ENSP00000265651:p.Trp248*	Somatic	0	51	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	82	11.83	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Nonsense_Mutation	SNP							pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom	p.W248*	ENST00000265651.3	37	c.743	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.687324	0.97764	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981	.	.	.	6.17	6.17	0.99709	.	0.102433	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6268	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	135;248;243;248;248	.	ENSP00000265651:W248X	W	-	2	0	FBXO3	33729711	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.473000	0.81007	2.941000	0.99782	0.655000	0.94253	TGG	-	smart_SMI1/KNR4_like_dom		0.328	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	protein_coding	OTTHUMT00000388665.1	C	NM_012175	-		33773135	-1	no_errors	ENST00000265651	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	33773135	C	T	33773135	4	4	1	1	0	0	0	0	0	1	0	0	5741	595	21	2	701	2	FBXO3	11	33773135	Nonsense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	11381465	33773135	101233381	33	33											
PRB3	5544	genome.wustl.edu	37	chr12	11421035	11421094	+	Splice_Site	DEL	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	-													ctttcctggaggaggtggggTacgttggggctggtttcctc					rs533793961|rs150063839|rs71455367|rs200479477|rs397751088|rs386375614|rs368068621|rs71455368|rs61463237|rs201672979|rs142192897|rs529192462|rs71455370	byFrequency	TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr12:11421035_11421094delTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	ENST00000279573.7	-	3	236_283	c.101_148delCACCTCCTCCAGGAAAGCCAGAAGGACGACGCCCACAAGGAGGAAACCAGCCCCAACGTA	c.(100-150)gcacctcctccaggaaagccagaaggacgacgcccacaaggaggaaaccag>gag	p.34_50APPPGKPEGRRPQGGNQ>E	PRB3_ENST00000381842.3_Splice_Site_p.34_50APPPGKPEGRRPQGGNQ>E|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Splice_Site_p.34_50APPPGKPEGRRPQGGNQ>E			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	34	Pro-rich.			PQRTPPP -> SQGPPPR (in Ref. 1; CAA30728). {ECO:0000305}.|R -> P (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGACACACGGC	0.542																																																	0								ENSG00000197870																																			PRB3	SO:0001630	splice_region_variant	0				HGNC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.101-1CACCTCCTCCAGGAAAGCCAGAAGGACGACGCCCACAAGGAGGAAACCAGCCCCAACGTA>-	12.37:g.11421035_11421094delTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG		Somatic					0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Splice_Site	DEL							-	e3-1	ENST00000279573.7	37	c.101-12_101-1		12																																																																																			-	-		0.542	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	protein_coding	OTTHUMT00000402119.5	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	NM_006249		In_Frame_Del	11421094	-1	no_errors	ENST00000381842	ensembl	human	known	74_37	splice_site_del	DEL	0.001:0.001:0.001:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.002:0.003:0.002:0.001:0.001:0.002:0.011:0.015:0.020:0.021:0.019:0.015:0.008:0.005:0.005:0.000:0.000:0.002:0.005:0.010:0.051:0.044:0.027:0.026:0.021:0.019:0.019:0.002:0.002:0.002	-	-	11421094	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	-	11421035	8	5	1	1	0	1	0	1	0	0	1	0	12449	1638	57	0	789	0	PRB3	12	11421035	Splice_Site	DEL	TACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTG	TCGA-3B-A9HI-01A-11D-A387-09		11421035	122430860	34	34											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113153364	113153364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaaagaccatacctcaaTttcacgctgtttctttttct	5	10	4	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr13:113153364T>A	ENST00000261965.3	-	20	2629	c.2443A>T	c.(2443-2445)Att>Ttt	p.I815F	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.I815F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	815					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CATACCTCAATTTCACGCTGT	0.353																																																	0								ENSG00000126216						162	151	155					13																	113153364		2202	4300	6502	TUBGCP3	SO:0001583	missense	0			-	HGNC	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2443A>T	13.37:g.113153364T>A	ENSP00000261965:p.Ile815Phe	Somatic	0	47	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	87	23.01	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP							pfam_TUBGCP	p.I815F	ENST00000261965.3	37	c.2443	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798245	0.31777	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.22539	1.97;1.95	4.44	-5.48	0.02592	.	1.234910	0.05355	N	0.532539	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B;B;B	0.16802	0.002;0.019;0.001	B;B;B	0.15870	0.003;0.014;0.003	T	0.30736	-0.9968	10	0.35671	T	0.21	0.0564	4.1043	0.10030	0.105:0.461:0.1959:0.238	.	805;815;815	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	F	815	ENSP00000261965:I815F;ENSP00000364821:I815F	ENSP00000261965:I815F	I	-	1	0	TUBGCP3	112201365	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-0.207000	0.09384	-0.894000	0.03925	0.402000	0.26972	ATT	-	NULL		0.353	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	protein_coding	OTTHUMT00000045825.2	T	NM_006322	-		113153364	-1	no_errors	ENST00000261965	ensembl	human	known	74_37	missense	SNP	0.001	A	A	113153364	T	A	113153364	3	1	1	1	0	0	0	0	1	0	0	0	16774	1493	52	5	292	5	TUBGCP3	13	113153364	Missense_Mutation	SNP	T	TCGA-3B-A9HI-01A-11D-A387-09		113153364	2016514	35	35											
SYNE2	23224	genome.wustl.edu	37	chr14	64445579	64445579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttccagaatcaacaaCattttggagaaaaaatttat	5	6	1	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr14:64445579C>T	ENST00000344113.4	+	14	1628	c.1416C>T	c.(1414-1416)aaC>aaT	p.N472N	SYNE2_ENST00000358025.3_Silent_p.N472N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.N472N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	472					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATCAACAACATTTTGGAGA	0.289																																																	0								ENSG00000054654						53	49	50					14																	64445579		1789	4059	5848	SYNE2	SO:0001819	synonymous_variant	0			-	HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1416C>T	14.37:g.64445579C>T		Somatic	0	69	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	65	30.11	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP							pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N472	ENST00000344113.4	37	c.1416	CCDS41963.1	14																																																																																			-	NULL		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	C	NM_182914	-		64445579	1	no_errors	ENST00000358025	ensembl	human	known	74_37	silent	SNP	0.989	T	T	64445579	C	T	64445579	2	4	1	1	0	0	0	0	0	0	0	1	15453	477	17	2		2	SYNE2	14	64445579	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		64445579	42903961	36	36											
ADAM21	8747	genome.wustl.edu	37	chr14	70924558	70924558	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactgttactatcatggttaCgtggaggcagcccctgagtc	12	10	1	1	rs61979126	byFrequency	TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr14:70924558C>G	ENST00000603540.1	+	2	600	c.342C>G	c.(340-342)taC>taG	p.Y114*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.Y114*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	114					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATCATGGTTACGTGGAGGCAG	0.473																																																	0								ENSG00000139985						95	127	116					14																	70924558		2200	4300	6500	ADAM21	SO:0001587	stop_gained	0			-	HGNC	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.342C>G	14.37:g.70924558C>G	ENSP00000474385:p.Tyr114*	Somatic	0	36	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	60	13.04	O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Y114*	ENST00000603540.1	37	c.342	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	C	1.716	-0.497903	0.04291	.	.	ENSG00000139985	ENST00000267499	.	.	.	3.55	-3.91	0.04168	.	0.189654	0.25352	U	0.031296	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2141	0.37337	0.0:0.5491:0.1196:0.3312	.	.	.	.	X	114	.	ENSP00000267499:Y114X	Y	+	3	2	ADAM21	69994311	0.002000	0.14202	0.472000	0.27241	0.250000	0.25880	-0.593000	0.05740	-0.622000	0.05626	-0.259000	0.10710	TAC	-	pfam_Peptidase_M12B_N		0.473	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	protein_coding	OTTHUMT00000413008.3	C		-		70924558	1	no_errors	ENST00000267499	ensembl	human	known	74_37	nonsense	SNP	0.288	G	G	70924558	C	G	70924558	4	3	1	1	0	0	0	0	0	1	0	0	243	547	19	4	344	4	ADAM21	14	70924558	Nonsense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	6478979	70924558	36424982	37	37											
SCAMP5	192683	genome.wustl.edu	37	chr15	75305127	75305127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcagcatgaccaagcgCctctactacctctggatgtg	9	13	3	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr15:75305127C>T	ENST00000361900.6	+	4	324	c.117C>T	c.(115-117)cgC>cgT	p.R39R	SCAMP5_ENST00000562212.1_Silent_p.R39R|SCAMP5_ENST00000425597.3_Silent_p.R39R|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Missense_Mutation_p.P21S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	39					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGACCAAGCGCCTCTACTACC	0.592																																																	0								ENSG00000198794						85	86	86					15																	75305127		2060	4199	6259	SCAMP5	SO:0001819	synonymous_variant	0			-	HGNC	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.117C>T	15.37:g.75305127C>T		Somatic	0	33	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	62	22.50	B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP							pfam_SCAMP	p.P21S	ENST00000361900.6	37	c.61	CCDS45306.1	15	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537540	0.45176	.	.	ENSG00000198794	ENST00000545456	T	0.60171	0.21	4.75	0.616	0.17613	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.52099	D	0.999943	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	8	0.87932	D	0	-21.7726	4.922	0.13874	0.0:0.3685:0.2988:0.3326	.	21	Q8TAC9-3	.	S	21	ENSP00000439685:P21S	ENSP00000439685:P21S	P	+	1	0	SCAMP5	73092180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.723000	0.25939	0.227000	0.20999	-0.199000	0.12753	CCT	-	NULL		0.592	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP5	protein_coding	OTTHUMT00000420015.2	C	NM_138967	-		75305127	1	no_errors	ENST00000545456	ensembl	human	known	74_37	missense	SNP	0.998	T	T	75305127	C	T	75305127	2	4	1	1	0	0	0	0	0	0	0	1	13882	726	26	2		2	SCAMP5	15	75305127	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		75305127	27226265	38	38											
IGFALS	3483	genome.wustl.edu	37	chr16	1840734	1840734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcacagatggcctggAcgaagcggggcacagcactg	13	15	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr16:1840734A>G	ENST00000215539.3	-	2	1795	c.1685T>C	c.(1684-1686)gTc>gCc	p.V562A	IGFALS_ENST00000415638.3_Missense_Mutation_p.V600A			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	562	LRRCT.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GATGGCCTGGACGAAGCGGGG	0.682																																																	0								ENSG00000099769						22	21	21					16																	1840734		2184	4293	6477	IGFALS	SO:0001583	missense	0			-	HGNC	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1685T>C	16.37:g.1840734A>G	ENSP00000215539:p.Val562Ala	Somatic	0	242	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	241	30.95	B4DZY8|E9PGU3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V600A	ENST00000215539.3	37	c.1799	CCDS10446.1	16	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537350	0.65085	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.23950	1.88;1.88	4.45	4.45	0.53987	Cysteine-rich flanking region, C-terminal (1);	0.068616	0.56097	D	0.000022	T	0.30008	0.0751	M	0.78223	2.4	0.80722	D	1	P;P	0.52316	0.952;0.952	P;B	0.44518	0.452;0.444	T	0.28618	-1.0038	10	0.07813	T	0.8	.	12.5601	0.56275	1.0:0.0:0.0:0.0	.	600;562	E9PGU3;P35858	.;ALS_HUMAN	A	562;600	ENSP00000215539:V562A;ENSP00000416683:V600A	ENSP00000215539:V562A	V	-	2	0	IGFALS	1780735	1.000000	0.71417	0.017000	0.16124	0.041000	0.13682	7.289000	0.78701	1.643000	0.50594	0.459000	0.35465	GTC	-	smart_Cys-rich_flank_reg_C		0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	protein_coding	OTTHUMT00000250509.2	A		-		1840734	-1	no_errors	ENST00000415638	ensembl	human	known	74_37	missense	SNP	0.810	G	G	1840734	A	G	1840734	3	3	1	1	0	0	0	0	1	0	0	0	7579	275	10	5	136	5	IGFALS	16	1840734	Missense_Mutation	SNP	A	TCGA-3B-A9HI-01A-11D-A387-09		1840734	88514019	39	39											
CHD9	80205	genome.wustl.edu	37	chr16	53191180	53191180	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaatttacttcatcaAgtggaatctcaaactgagcc	8	8	3	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr16:53191180A>G	ENST00000398510.3	+	1	1266	c.1179A>G	c.(1177-1179)caA>caG	p.Q393Q	CHD9_ENST00000566029.1_Silent_p.Q393Q|CHD9_ENST00000447540.1_Silent_p.Q393Q|CHD9_ENST00000564845.1_Silent_p.Q393Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	393					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TACTTCATCAAGTGGAATCTC	0.428																																																	0								ENSG00000177200						31	29	29					16																	53191180		1881	4101	5982	CHD9	SO:0001819	synonymous_variant	0			-	HGNC	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1179A>G	16.37:g.53191180A>G		Somatic	0	45	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	28	54.84	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q393	ENST00000398510.3	37	c.1179		16																																																																																			-	NULL		0.428	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	A	NM_025134	-		53191180	1	no_errors	ENST00000398510	ensembl	human	known	74_37	silent	SNP	1.000	G	G	53191180	A	G	53191180	2	3	1	1	0	0	0	0	0	0	0	1	3334	69	3	5		5	CHD9	16	53191180	Silent	SNP	A	TCGA-3B-A9HI-01A-11D-A387-09	51350446	53191180	37163573	40	40											
LHX1	3975	genome.wustl.edu	37	chr17	35300104	35300104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgacttcttcccgcaaggCcccccgtcctcgcaggccca	8	20	1	0	rs546566090		TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr17:35300104C>T	ENST00000254457.5	+	5	2308	c.897C>T	c.(895-897)ggC>ggT	p.G299G	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	299					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TCCCGCAAGGCCCCCCGTCCT	0.726																																																	0								ENSG00000132130						16	17	16					17																	35300104		2200	4296	6496	LHX1	SO:0001819	synonymous_variant	0			-	HGNC	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.897C>T	17.37:g.35300104C>T		Somatic	0	16	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	Q3MIW0	Silent	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.G299	ENST00000254457.5	37	c.897	CCDS11316.1	17																																																																																			-	NULL		0.726	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	protein_coding	OTTHUMT00000256704.3	C	NM_005568	-		35300104	1	no_errors	ENST00000254457	ensembl	human	known	74_37	silent	SNP	1.000	T	T	35300104	C	T	35300104	2	4	1	1	0	0	0	0	0	0	0	1	8772	726	26	2		2	LHX1	17	35300104	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		35300104	45895106	41	41											
KPNB1	3837	genome.wustl.edu	37	chr17	45735974	45735974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgtgaagctagctgctaCgaatgcactcctgaactcat	8	10	1	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr17:45735974C>T	ENST00000290158.4	+	5	991	c.584C>T	c.(583-585)aCg>aTg	p.T195M	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_Missense_Mutation_p.T50M|KPNB1_ENST00000540627.1_Missense_Mutation_p.T50M|KPNB1_ENST00000537679.1_Missense_Mutation_p.T50M	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	195					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTAGCTGCTACGAATGCACTC	0.403																																																	0								ENSG00000108424						100	93	96					17																	45735974		2203	4300	6503	KPNB1	SO:0001583	missense	0			-	HGNC	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.584C>T	17.37:g.45735974C>T	ENSP00000290158:p.Thr195Met	Somatic	0	35	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP							pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.T195M	ENST00000290158.4	37	c.584	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336154	0.60963	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.76433	2.335	0.44380	D	0.997286	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.81420	-0.0941	9	0.49607	T	0.09	-2.7436	20.5407	0.99260	0.0:1.0:0.0:0.0	.	50;195	F5H4R7;Q14974	.;IMB1_HUMAN	M	50;195;50;50	ENSP00000438253:T50M;ENSP00000290158:T195M;ENSP00000438964:T50M;ENSP00000445006:T50M	ENSP00000290158:T195M	T	+	2	0	KPNB1	43090973	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.815000	0.86186	2.865000	0.98341	0.655000	0.94253	ACG	-	superfamily_ARM-type_fold		0.403	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	protein_coding	OTTHUMT00000089755.2	C	NM_002265	-		45735974	1	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45735974	C	T	45735974	3	4	1	1	0	0	0	0	1	0	0	0	8437	536	19	1	602	1	KPNB1	17	45735974	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	10435870	45735974	35459236	42	42											
DYM	54808	genome.wustl.edu	37	chr18	46860165	46860165	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtggaagagttggcAggaaaggaaaacaaccattg	12	5	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr18:46860165A>C	ENST00000269445.6	-	7	1010	c.553T>G	c.(553-555)Tgc>Ggc	p.C185G	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Missense_Mutation_p.C30G	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	185					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AAGAGTTGGCAGGAAAGGAAA	0.353																																																	0								ENSG00000141627						120	115	116					18																	46860165		2203	4300	6503	DYM	SO:0001583	missense	0			-	HGNC	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.553T>G	18.37:g.46860165A>C	ENSP00000269445:p.Cys185Gly	Somatic	0	31	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP							pfam_Dymeclin,superfamily_ARM-type_fold	p.C185G	ENST00000269445.6	37	c.553	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	A	13.50	2.257253	0.39896	.	.	ENSG00000141627	ENST00000269445	T	0.81330	-1.48	5.19	5.19	0.71726	.	0.149974	0.64402	D	0.000003	T	0.78773	0.4336	L	0.34521	1.04	0.46458	D	0.99905	P;P	0.39157	0.631;0.662	P;B	0.45577	0.486;0.171	T	0.81422	-0.0940	10	0.72032	D	0.01	-13.8336	15.8199	0.78631	1.0:0.0:0.0:0.0	.	7;185	Q9NXS9;Q7RTS9	.;DYM_HUMAN	G	185	ENSP00000269445:C185G	ENSP00000269445:C185G	C	-	1	0	DYM	45114163	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.353000	0.90077	2.278000	0.76064	0.524000	0.50904	TGC	-	pfam_Dymeclin		0.353	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	protein_coding	OTTHUMT00000255912.3	A	NM_017653	-		46860165	-1	no_errors	ENST00000269445	ensembl	human	known	74_37	missense	SNP	1.000	C	C	46860165	A	C	46860165	3	2	1	1	0	0	0	0	1	0	0	0	4842	188	7	5	1500	5	DYM	18	46860165	Missense_Mutation	SNP	A	TCGA-3B-A9HI-01A-11D-A387-09		46860165	31217083	43	43											
CHAF1A	10036	genome.wustl.edu	37	chr19	4430604	4430604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatggtttctttgtgccccAtgggtacctgtctgaggacg	13	10	2	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr19:4430604A>G	ENST00000301280.5	+	11	2014	c.1913A>G	c.(1912-1914)cAt>cGt	p.H638R	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	638					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.H638R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGTGCCCCATGGGTACCTG	0.493								Chromatin Structure																																									1	Substitution - Missense(1)	large_intestine(1)						ENSG00000167670						153	121	132					19																	4430604		2203	4300	6503	CHAF1A	SO:0001583	missense	0			-	HGNC	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1913A>G	19.37:g.4430604A>G	ENSP00000301280:p.His638Arg	Somatic	0	55	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	64	21.95	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP							pfam_CAF1A	p.H638R	ENST00000301280.5	37	c.1913	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315217	0.60524	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25414	1.8	4.25	4.25	0.50352	.	.	.	.	.	T	0.51381	0.1671	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.58312	-0.7658	9	0.87932	D	0	-25.3162	12.6767	0.56897	1.0:0.0:0.0:0.0	.	638	Q13111	CAF1A_HUMAN	R	638	ENSP00000301280:H638R	ENSP00000301280:H638R	H	+	2	0	CHAF1A	4381604	1.000000	0.71417	0.989000	0.46669	0.563000	0.35712	8.189000	0.89712	1.785000	0.52413	0.260000	0.18958	CAT	-	NULL		0.493	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	protein_coding	OTTHUMT00000458310.2	A	NM_005483	-		4430604	1	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	SNP	1.000	G	G	4430604	A	G	4430604	3	3	1	1	0	0	0	0	1	0	0	0	3313	217	8	5	1955	5	CHAF1A	19	4430604	Missense_Mutation	SNP	A	TCGA-3B-A9HI-01A-11D-A387-09		4430604	54698379	44	44											
LOC729991-MEF2B	100271849	genome.wustl.edu	37	chr19	19260125	19260125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgtccgtgctggcataCtggaagaggcggttggcgct	15	10	0	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr19:19260125C>T	ENST00000602424.2	-	5	894	c.168G>A	c.(166-168)caG>caA	p.Q56Q	MEF2B_ENST00000410050.1_Silent_p.Q56Q|MEF2B_ENST00000409224.1_Silent_p.Q56Q|MEF2B_ENST00000409447.2_Silent_p.Q56Q|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.Q73Q|MEF2B_ENST00000424583.2_Silent_p.Q56Q|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.Q56Q|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Silent_p.Q56Q	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	56	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGCTGGCATACTGGAAGAGGC	0.577																																																	0								ENSG00000213999						137	88	104					19																	19260125		2203	4300	6503	MEF2B	SO:0001819	synonymous_variant	0			-	HGNC	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.168G>A	19.37:g.19260125C>T		Somatic	0	60	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	91	14.95	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP							pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.Q56	ENST00000602424.2	37	c.168	CCDS12394.1	19																																																																																			-	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox		0.577	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	protein_coding		C	NM_005919	-		19260125	-1	no_errors	ENST00000162023	ensembl	human	known	74_37	silent	SNP	1.000	T	T	19260125	C	T	19260125	2	4	1	1	0	0	0	0	0	0	0	1	8891	564	20	2		2	LOC729991-MEF2B	19	19260125	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	14829521	19260125	39868858	45	45											
CHST8	64377	genome.wustl.edu	37	chr19	34263881	34263881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtacttcgcccaactctcGgccctgcaaaggcagcgcac	9	17	1	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr19:34263881G>A	ENST00000262622.4	+	4	1946	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	CHST8_ENST00000438847.3_Silent_p.S396S|CHST8_ENST00000434302.1_Silent_p.S396S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	396					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCCAACTCTCGGCCCTGCAAA	0.617																																																	0								ENSG00000124302						50	54	53					19																	34263881		2203	4300	6503	CHST8	SO:0001819	synonymous_variant	0			-	HGNC	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1188G>A	19.37:g.34263881G>A		Somatic	0	44	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	41	42.25	Q9H3N2	Silent	SNP							pfam_Sulfotransferase	p.S396	ENST00000262622.4	37	c.1188	CCDS12433.1	19																																																																																			-	pfam_Sulfotransferase		0.617	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	protein_coding	OTTHUMT00000451453.1	G	NM_022467	-		34263881	1	no_errors	ENST00000262622	ensembl	human	known	74_37	silent	SNP	0.000	A	A	34263881	G	A	34263881	2	1	1	1	0	0	0	0	0	0	0	1	3412	1103	39	1		1	CHST8	19	34263881	Silent	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	15003756	34263881	24865102	46	46											
POLD1	5424	genome.wustl.edu	37	chr19	50912435	50912435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggacgagtttgtgaagacctCagtgcggaaggggctgctgc	17	8	1	2			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr19:50912435C>T	ENST00000440232.2	+	16	2002	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L	POLD1_ENST00000595904.1_Missense_Mutation_p.S676L|POLD1_ENST00000599857.1_Missense_Mutation_p.S650L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	650					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGAAGACCTCAGTGCGGAAG	0.622								DNA polymerases (catalytic subunits)																																									0								ENSG00000062822						64	61	62					19																	50912435		2203	4300	6503	POLD1	SO:0001583	missense	0			-	HGNC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1949C>T	19.37:g.50912435C>T	ENSP00000406046:p.Ser650Leu	Somatic	0	30	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	49	28.99	Q8NER3|Q96H98	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.S650L	ENST00000440232.2	37	c.1949	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783595	0.49891	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.17691	2.26	4.55	2.37	0.29283	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.067754	0.64402	D	0.000011	T	0.39279	0.1072	H	0.97077	3.935	0.21256	N	0.999749	P;P	0.50819	0.662;0.939	P;P	0.49012	0.598;0.583	T	0.45041	-0.9288	10	0.66056	D	0.02	-2.4173	7.9094	0.29782	0.0:0.6072:0.3064:0.0864	.	676;650	E7EVW0;P28340	.;DPOD1_HUMAN	L	650;651	ENSP00000406046:S650L	ENSP00000366129:S651L	S	+	2	0	POLD1	55604247	0.813000	0.29090	0.009000	0.14445	0.674000	0.39518	3.326000	0.52037	0.469000	0.27268	0.561000	0.74099	TCA	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2		0.622	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	protein_coding	OTTHUMT00000464732.1	C		-		50912435	1	no_errors	ENST00000440232	ensembl	human	known	74_37	missense	SNP	0.089	T	T	50912435	C	T	50912435	3	4	1	1	0	0	0	0	1	0	0	0	12192	838	29	2	2007	2	POLD1	19	50912435	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	16648554	50912435	8216548	47	47											
PRKCG	5582	genome.wustl.edu	37	chr19	54409605	54409605	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagggaagcgcctgggctCagggcctgatggggaaccta	16	12	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr19:54409605C>A	ENST00000263431.3	+	17	2081	c.1799C>A	c.(1798-1800)tCa>tAa	p.S600*	PRKCG_ENST00000542049.1_Nonsense_Mutation_p.S451*|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.S600*|CACNG7_ENST00000391767.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	600	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)	CGCCTGGGCTCAGGGCCTGAT	0.582																																																	0								ENSG00000126583						46	34	38					19																	54409605		2167	4229	6396	PRKCG	SO:0001587	stop_gained	0			-	HGNC	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.1799C>A	19.37:g.54409605C>A	ENSP00000263431:p.Ser600*	Somatic	0	52	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	97	11.01	B7Z8Q0	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S600*	ENST00000263431.3	37	c.1799	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.550089	0.96501	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	7.561	0.27851	0.0:0.884:0.0:0.116	.	.	.	.	X	600;600;451	.	ENSP00000263431:S600X	S	+	2	0	PRKCG	59101417	0.973000	0.33851	0.917000	0.36280	0.951000	0.60555	1.958000	0.40402	2.187000	0.69744	0.555000	0.69702	TCA	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom		0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	protein_coding	OTTHUMT00000139233.3	C	NM_002739	-		54409605	1	no_errors	ENST00000540413	ensembl	human	known	74_37	nonsense	SNP	0.810	A	A	54409605	C	A	54409605	4	1	1	1	0	0	0	0	0	1	0	0	12517	838	29	3	1865	3	PRKCG	19	54409605	Nonsense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09	3497170	54409605	4719378	48	48											
ZNF543	125919	genome.wustl.edu	37	chr19	57838035	57838035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagagctgatctaccaGttggatcacagacaggagct	10	10	2	3			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr19:57838035G>T	ENST00000321545.4	+	3	525	c.180G>T	c.(178-180)caG>caT	p.Q60H		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	60	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)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		TGATCTACCAGTTGGATCACA	0.498																																																	0								ENSG00000178229						86	79	81					19																	57838035		2203	4300	6503	ZNF543	SO:0001583	missense	0			-	HGNC	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.180G>T	19.37:g.57838035G>T	ENSP00000322545:p.Gln60His	Somatic	0	25	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q60H	ENST00000321545.4	37	c.180	CCDS33130.1	19	.	.	.	.	.	.	.	.	.	.	G	2.255	-0.370595	0.05069	.	.	ENSG00000178229	ENST00000321545	T	0.00816	5.66	2.4	-1.59	0.08453	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.25957	0.775	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47209	-0.9135	9	0.11485	T	0.65	.	2.1501	0.03797	0.345:0.0:0.408:0.2469	.	60	Q08ER8	ZN543_HUMAN	H	60	ENSP00000322545:Q60H	ENSP00000322545:Q60H	Q	+	3	2	ZNF543	62529847	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.283000	0.18846	-0.254000	0.09500	0.467000	0.42956	CAG	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	protein_coding	OTTHUMT00000465780.1	G	XM_064865	-		57838035	1	no_errors	ENST00000321545	ensembl	human	known	74_37	missense	SNP	0.000	T	T	57838035	G	T	57838035	3	4	1	1	0	0	0	0	1	0	0	0	17983	1020	36	3	190	3	ZNF543	19	57838035	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09	3428430	57838035	1290948	49	49											
TMC2	117532	genome.wustl.edu	37	chr20	2582947	2582947	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctggtatgaaaggaatgaGgtaagaaaaacatcgctgat	12	4	0	4			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr20:2582947G>T	ENST00000358864.1	+	11	1428	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	471					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGGAATGAGGTAAGAAAAA	0.398																																																	0								ENSG00000149488						98	87	91					20																	2582947		2203	4300	6503	TMC2	SO:0001630	splice_region_variant	0			-	HGNC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1413+1G>T	20.37:g.2582947G>T		Somatic	0	42	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP							pfam_TMC	p.E471D	ENST00000358864.1	37	c.1413	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446397	0.84101	.	.	ENSG00000149488	ENST00000358864	T	0.50001	0.76	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.81914	0.978;0.99;0.995;0.987	T	0.75499	-0.3296	10	0.42905	T	0.14	-26.7331	17.197	0.86895	0.0:0.0:1.0:0.0	.	302;303;471;471	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	D	471	ENSP00000351732:E471D	ENSP00000351732:E471D	E	+	3	2	TMC2	2530947	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.829000	0.75314	2.733000	0.93635	0.655000	0.94253	GAG	-	NULL		0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	protein_coding	OTTHUMT00000077601.2	G		-	Missense_Mutation	2582947	1	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2582947	G	T	2582947	5	4	1	1	0	0	0	0	0	0	1	0	15992	1014	35	3	1455	3	TMC2	20	2582947	Splice_Site	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09		2582947	60442573	50	50											
COL18A1	80781	genome.wustl.edu	37	chr21	46925093	46925093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcccggcccacctggaCctcagggaccccccggcatc	11	21	1	0			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr21:46925093C>A	ENST00000359759.4	+	34	4180	c.4159C>A	c.(4159-4161)Cct>Act	p.P1387T	COL18A1_ENST00000355480.5_Missense_Mutation_p.P1152T|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.P972T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1387	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCACCTGGACCTCAGGGACC	0.726																																																	0								ENSG00000182871						7	10	9					21																	46925093		1722	3965	5687	COL18A1	SO:0001583	missense	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4159C>A	21.37:g.46925093C>A	ENSP00000352798:p.Pro1387Thr	Somatic	0	70	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	83	15.31	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.P1387T	ENST00000359759.4	37	c.4159		21	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323817	0.81580	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	3.95	3.95	0.45737	.	0.060928	0.64402	N	0.000003	D	0.96965	0.9009	M	0.71036	2.16	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.996	D;D;P	0.66979	0.942;0.948;0.907	D	0.97060	0.9770	10	0.52906	T	0.07	.	15.4345	0.75133	0.0:1.0:0.0:0.0	.	1387;1152;972	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	T	972;972;1152;1387;1387;319	ENSP00000383191:P972T;ENSP00000347665:P1152T;ENSP00000352798:P1387T;ENSP00000339118:P319T	ENSP00000339118:P319T	P	+	1	0	COL18A1	45749521	0.936000	0.31750	0.999000	0.59377	0.991000	0.79684	2.609000	0.46317	2.138000	0.66242	0.555000	0.69702	CCT	-	NULL		0.726	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	C		-		46925093	1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46925093	C	A	46925093	3	1	1	1	0	0	0	0	1	0	0	0	3677	507	18	3	4402	3	COL18A1	21	46925093	Missense_Mutation	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		46925093	1204802	51	51											
DGCR2	9993	genome.wustl.edu	37	chr22	19055725	19055725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccatgatgaggacgcacCtccccggtcacttctgaaag	9	14	2	3			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chr22:19055725C>T	ENST00000263196.7	-	3	463	c.216G>A	c.(214-216)gaG>gaA	p.E72E	DGCR2_ENST00000537045.1_Silent_p.E31E|DGCR2_ENST00000473832.1_5'Flank|DGCR2_ENST00000545799.1_Silent_p.E72E	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	72					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GAGGACGCACCTCCCCGGTCA	0.642																																																	0								ENSG00000070413						47	39	42					22																	19055725		2203	4300	6503	DGCR2	SO:0001819	synonymous_variant	0			-	HGNC	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.216G>A	22.37:g.19055725C>T		Somatic	0	51	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	77	37.40	A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP							pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.E72	ENST00000263196.7	37	c.216	CCDS33598.1	22																																																																																			-	superfamily_LDrepeatLR_classA_rpt		0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	protein_coding	OTTHUMT00000316504.1	C	NM_005137	-		19055725	-1	no_errors	ENST00000263196	ensembl	human	known	74_37	silent	SNP	0.047	T	T	19055725	C	T	19055725	2	4	1	1	0	0	0	0	0	0	0	1	4463	680	24	2		2	DGCR2	22	19055725	Silent	SNP	C	TCGA-3B-A9HI-01A-11D-A387-09		19055725	32248841	52	52											
RNF128	79589	genome.wustl.edu	37	chrX	105970276	105970276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgaagcagtgtggaccGcgtacctcaacgtgtcctgg	15	11	1	1			TCGA-3B-A9HI-01A-11D-A387-09	TCGA-3B-A9HI-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7768147-81e0-42bd-aa71-2a835e66dbe4	e6bb0106-9ac8-4f88-b90b-01e3b3269f2f	g.chrX:105970276G>A	ENST00000255499.2	+	1	383	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	45					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGTGTGGACCGCGTACCTCAA	0.677																																																	0								ENSG00000133135						20	14	16					X																	105970276		2195	4279	6474	RNF128	SO:0001583	missense	0			-	HGNC	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.133G>A	X.37:g.105970276G>A	ENSP00000255499:p.Ala45Thr	Somatic	0	32	0		0.43445166226291				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A45T	ENST00000255499.2	37	c.133	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	g	28.3	4.907374	0.92107	.	.	ENSG00000133135	ENST00000255499	T	0.21932	1.98	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.43500	0.1250	M	0.67569	2.06	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	T	0.39981	-0.9587	10	0.87932	D	0	.	12.4699	0.55781	0.0:0.0:1.0:0.0	.	45	Q8TEB7	RN128_HUMAN	T	45	ENSP00000255499:A45T	ENSP00000255499:A45T	A	+	1	0	RNF128	105856932	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.827000	0.75303	2.082000	0.62665	0.509000	0.49947	GCG	-	NULL		0.677	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	protein_coding	OTTHUMT00000057804.1	G	NM_024539	-		105970276	1	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	SNP	1.000	A	A	105970276	G	A	105970276	3	1	1	1	0	0	0	0	1	0	0	0	13444	1087	38	1	545	1	RNF128	23	105970276	Missense_Mutation	SNP	G	TCGA-3B-A9HI-01A-11D-A387-09		105970276	49300284	53	53											
RAD17	5884	genome.wustl.edu	37	chr5	68692375	68692376	+	Splice_Site	INS	-	-	A													tttctaataaataaaaaggtINSaaaaaaaaaaaaaaaaattc					rs377737971|rs34097088|rs75928221		TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr5:68692375_68692376insA	ENST00000509734.1	+	15	2283		c.e15+2		RAD17_ENST00000521422.1_Splice_Site|RAD17_ENST00000354868.5_Splice_Site|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000380774.3_Splice_Site|RAD17_ENST00000354312.3_Splice_Site|RAD17_ENST00000345306.6_Splice_Site			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATAAAAAGGTAAAAAAAAAAA	0.322								Other conserved DNA damage response genes																																									0								ENSG00000152942																																			RAD17	SO:0001630	splice_region_variant	0				HGNC	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1605+2->A	5.37:g.68692386_68692386dupA		Somatic	0	13	0		0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Splice_Site	INS							-	e13+2	ENST00000509734.1	37	c.1605+2_1605+1	CCDS4003.1	5																																																																																			-	-		0.322	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	protein_coding	OTTHUMT00000369171.1	-	NM_133344		Intron	68692376	1	no_errors	ENST00000380774	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.992	A	A	68692376	-	A	68692375	8	5	2	1	0	1	1	0	0	0	1	0	12987	1652	57	0	1670	0	RAD17	5	68692375	Splice_Site	INS	-	TCGA-3B-A9HJ-01A-11D-A387-09		68692375	112222885	1	54											
NRG2	9542	genome.wustl.edu	37	chr5	139228073	139228078	+	In_Frame_Del	DEL	CCGGGT	CCGGGT	-													cgccgggcccgggcccgggcCcgggtccgggtcccgggccg					rs185375193|rs200668592		TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	CCGGGT	CCGGGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr5:139228073_139228078delCCGGGT	ENST00000361474.1	-	10	2201_2206	c.1977_1982delACCCGG	c.(1975-1983)ggacccggg>ggg	p.659_661GPG>G	NRG2_ENST00000340391.3_In_Frame_Del_p.456_458GPG>G|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_In_Frame_Del_p.653_655GPG>G|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000545385.1_In_Frame_Del_p.661_663GPG>G|NRG2_ENST00000289422.7_In_Frame_Del_p.667_669GPG>G|NRG2_ENST00000541337.1_In_Frame_Del_p.593_595GPG>G|NRG2_ENST00000358522.3_In_Frame_Del_p.661_663GPG>G	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	659					embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gggcccgggcccgggtccgggtcccg	0.791																																																	0								ENSG00000158458		,,,,	145,405		65,15,195					,,,,		0.3			1	321,1153		148,25,564	no	coding,coding,coding,coding,coding	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	213,40,759	A1A1,A1R,RR		21.7775,26.3636,23.0237	,,,,	,,,,		466,1558				NRG2	SO:0001651	inframe_deletion	0				HGNC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1977_1982delACCCGG	5.37:g.139228079_139228084delCCGGGT	ENSP00000354910:p.Gly665_Pro666del	Somatic					0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1					In_Frame_Del	DEL							pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom	p.GP665in_frame_del	ENST00000361474.1	37	c.1988_1983	CCDS4217.1	5																																																																																			-	pfam_Neuregulin_1_C		0.791	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	protein_coding	OTTHUMT00000251340.1	CCGGGT	NM_013982			139228078	-1	no_errors	ENST00000545385	ensembl	human	known	74_37	in_frame_del	DEL	0.243:0.240:0.236:0.085:0.074:0.062	-	-	139228078	CCGGGT	-	139228073	7	5	2	1	0	1	0	1	0	0	0	0	10650	623	22	0	574	0	NRG2	5	139228073	In_Frame_Del	DEL	CCGGGT	TCGA-3B-A9HJ-01A-11D-A387-09	70535698	139228073	41687187	2	55											
FAT3	120114	genome.wustl.edu	37	chr11	92616273	92616273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgcgcggcagtggggaCggccgcaacgtctaccagga	15	13	1	0			TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr11:92616273C>T	ENST00000298047.6	+	23	12668	c.12651C>T	c.(12649-12651)gaC>gaT	p.D4217D	FAT3_ENST00000533797.1_Silent_p.D552D|FAT3_ENST00000525166.1_Silent_p.D4067D|FAT3_ENST00000409404.2_Silent_p.D4217D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4217					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)				GCAGTGGGGACGGCCGCAACG	0.657										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						53	66	62					11																	92616273		1976	4146	6122	FAT3	SO:0001819	synonymous_variant	0			-	HGNC	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.12651C>T	11.37:g.92616273C>T		Somatic	0	40	0		0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	90	8.16	B5MDB0|Q96AU6	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D4217	ENST00000298047.6	37	c.12651		11																																																																																			-	NULL		0.657	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92616273	1	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	SNP	0.001	T	T	92616273	C	T	92616273	2	4	2	1	0	0	0	0	0	0	0	1	5693	535	19	1		1	FAT3	11	92616273	Silent	SNP	C	TCGA-3B-A9HJ-01A-11D-A387-09		92616273	42390243	3	56											
C14orf4	64207	genome.wustl.edu	37	chr14	77493780	77493794	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-													gttgctgctgctgctgctgcTgctgctgctgctgttgctgc					rs377151545|rs28718623|rs71125518|rs28692724	byFrequency	TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr14:77493780_77493794delTGCTGCTGCTGCTGT	ENST00000238647.3	-	1	1240_1254	c.342_356delACAGCAGCAGCAGCA	c.(340-357)caacagcagcagcagcag>cag	p.114_119QQQQQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgctgctgctgctgttgctgctgct	0.693																																																	0								ENSG00000119669																																			IRF2BPL	SO:0001651	inframe_deletion	0				HGNC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342_356delACAGCAGCAGCAGCA	14.37:g.77493780_77493794delTGCTGCTGCTGCTGT	ENSP00000238647:p.Gln119_Gln123del	Somatic					0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL							pfam_Interferon_reg_fac2-bd1_2_Znf	p.QQQQQ118in_frame_del	ENST00000238647.3	37	c.356_342	CCDS9854.1	14																																																																																			-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.693	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	protein_coding	OTTHUMT00000414298.1	TGCTGCTGCTGCTGT	NM_024496			77493794	-1	no_errors	ENST00000238647	ensembl	human	known	74_37	in_frame_del	DEL	0.967:0.974:0.967:0.993:0.991:0.990:1.000:1.000:1.000:0.997:0.987:0.121:0.050:0.052:0.060	-	-	77493794	TGCTGCTGCTGCTGT	-	77493780	7	5	2	1	0	1	0	1	0	0	0	0	1775	1580	55	0	2038	0	C14orf4	14	77493780	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TCGA-3B-A9HJ-01A-11D-A387-09		77493780	29855760	4	57											
NEURL4	84461	genome.wustl.edu	37	chr17	7228218	7228218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatttgtccaccatcttGtcgatgcgcacctggaacac	8	15	1	0	rs377496192		TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr17:7228218G>T	ENST00000399464.2	-	9	1728	c.1713C>A	c.(1711-1713)gaC>gaA	p.D571E	NEURL4_ENST00000315614.7_Missense_Mutation_p.D571E|NEURL4_ENST00000570460.1_Missense_Mutation_p.D549E	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	571	NHR 3. {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						CCACCATCTTGTCGATGCGCA	0.587											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000215041	G	GLU/ASP,GLU/ASP	0,4342		0,0,2171	206	217	213		1713,1713	4.7	1	17		213	1,8545		0,1,4272	no	missense,missense	NEURL4	NM_001005408.1,NM_032442.2	45,45	0,1,6443	TT,TG,GG		0.0117,0.0,0.0078	benign,benign	571/1561,571/1563	7228218	1,12887	2171	4273	6444	NEURL4	SO:0001583	missense	0			-	HGNC		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.1713C>A	17.37:g.7228218G>T	ENSP00000382390:p.Asp571Glu	Somatic	0	41	0	640	0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP							pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.D571E	ENST00000399464.2	37	c.1713	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067866	0.55539	0.0	1.17E-4	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73575	-0.76;-0.76	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	N	0.13140	0.3	0.42452	D	0.992754	P;P	0.46784	0.884;0.788	P;P	0.47470	0.509;0.548	T	0.61168	-0.7117	10	0.14656	T	0.56	-34.022	16.9946	0.86363	0.0:0.0:1.0:0.0	.	571;571	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	E	571	ENSP00000319826:D571E;ENSP00000382390:D571E	ENSP00000319826:D571E	D	-	3	2	NEURL4	7168942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.296000	0.65698	2.608000	0.88229	0.655000	0.94253	GAC	-	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z		0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	protein_coding	OTTHUMT00000255434.2	G	NM_032442	-		7228218	-1	no_errors	ENST00000399464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7228218	G	T	7228218	3	4	2	1	0	0	0	0	1	0	0	0	10349	1368	48	3	3059	3	NEURL4	17	7228218	Missense_Mutation	SNP	G	TCGA-3B-A9HJ-01A-11D-A387-09		7228218	73966992	5	58											
EMR1	2015	genome.wustl.edu	37	chr19	6916370	6916370	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttccacaattgaggaatctGaatccacaggtacaggtcct	9	10	1	2			TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr19:6916370G>C	ENST00000312053.4	+	12	1448	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	EMR1_ENST00000250572.8_Missense_Mutation_p.E471Q|EMR1_ENST00000381404.4_Missense_Mutation_p.E419Q|EMR1_ENST00000381407.5_Missense_Mutation_p.E330Q|EMR1_ENST00000450315.3_Missense_Mutation_p.E294Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	471	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGAGGAATCTGAATCCACAGG	0.443																																																	0								ENSG00000174837						153	134	140					19																	6916370		2203	4300	6503	EMR1	SO:0001583	missense	0			-	HGNC	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1411G>C	19.37:g.6916370G>C	ENSP00000311545:p.Glu471Gln	Somatic	0	32	0		0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	89	10.10	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.E471Q	ENST00000312053.4	37	c.1411	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	G	7.596	0.671802	0.14776	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78364	-1.15;-1.17;-1.17;0.01;0.34	4.15	-0.476	0.12100	.	.	.	.	.	T	0.74718	0.3753	M	0.62723	1.935	0.09310	N	1	P;P;P;P;P	0.51653	0.947;0.893;0.763;0.868;0.868	P;B;B;B;B	0.49752	0.621;0.293;0.387;0.23;0.312	T	0.63116	-0.6709	9	0.20046	T	0.44	.	6.5735	0.22551	0.4263:0.0:0.5737:0.0	.	294;330;471;419;471	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Q	471;471;419;471;330;294	ENSP00000311545:E471Q;ENSP00000370811:E419Q;ENSP00000250572:E471Q;ENSP00000370814:E330Q;ENSP00000405974:E294Q	ENSP00000250572:E471Q	E	+	1	0	EMR1	6867370	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	0.285000	0.18883	-0.144000	0.11314	0.591000	0.81541	GAA	-	NULL		0.443	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	G		-		6916370	1	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	SNP	0.005	C	C	6916370	G	C	6916370	3	2	2	1	0	0	0	0	1	0	0	0	5106	1291	45	4	1457	4	EMR1	19	6916370	Missense_Mutation	SNP	G	TCGA-3B-A9HJ-01A-11D-A387-09		6916370	52212613	6	59											
OR7D4	125958	genome.wustl.edu	37	chr19	9324756	9324756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatagaccccaagtcctgttCcatagaacaaggagaccaca	8	12	0	3			TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr19:9324756C>T	ENST00000308682.2	-	1	786	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	253						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						AAGTCCTGTTCCATAGAACAA	0.527																																																	0								ENSG00000174667						63	58	60					19																	9324756		2203	4300	6503	OR7D4	SO:0001583	missense	0			-	HGNC		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.758G>A	19.37:g.9324756C>T	ENSP00000310488:p.Gly253Glu	Somatic	0	38	0		0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	129	12.24	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G253E	ENST00000308682.2	37	c.758	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951132	0.34471	.	.	ENSG00000174667	ENST00000308682	T	0.39056	1.1	3.84	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.75532	0.3862	H	0.98849	4.35	0.20764	N	0.999855	D	0.76494	0.999	D	0.79784	0.993	T	0.71255	-0.4647	10	0.59425	D	0.04	.	10.2925	0.43605	0.1976:0.8024:0.0:0.0	.	253	Q8NG98	OR7D4_HUMAN	E	253	ENSP00000310488:G253E	ENSP00000310488:G253E	G	-	2	0	OR7D4	9185756	0.013000	0.17824	0.906000	0.35671	0.297000	0.27493	0.536000	0.23129	2.172000	0.68678	0.205000	0.17691	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	C		-		9324756	-1	no_errors	ENST00000308682	ensembl	human	known	74_37	missense	SNP	0.295	T	T	9324756	C	T	9324756	3	4	2	1	0	0	0	0	1	0	0	0	11222	855	30	2	184	2	OR7D4	19	9324756	Missense_Mutation	SNP	C	TCGA-3B-A9HJ-01A-11D-A387-09	2408386	9324756	49804227	7	60											
OR7D4	125958	genome.wustl.edu	37	chr19	9325248	9325248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtaggagatgtctttgCtccgtgcctggatgctcact	11	11	2	1			TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr19:9325248C>T	ENST00000308682.2	-	1	294	c.266G>A	c.(265-267)aGc>aAc	p.S89N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	89						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						GATGTCTTTGCTCCGTGCCTG	0.498																																																	0								ENSG00000174667						81	72	75					19																	9325248		2203	4300	6503	OR7D4	SO:0001583	missense	0			-	HGNC		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.266G>A	19.37:g.9325248C>T	ENSP00000310488:p.Ser89Asn	Somatic	0	51	0		0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	113	11.72	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S89N	ENST00000308682.2	37	c.266	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.446329	0.01089	.	.	ENSG00000174667	ENST00000308682	T	0.03004	4.08	4.0	-3.63	0.04529	GPCR, rhodopsin-like superfamily (1);	0.364425	0.27027	N	0.021288	T	0.01765	0.0056	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42361	-0.9456	10	0.23302	T	0.38	.	1.5991	0.02670	0.1177:0.3361:0.2313:0.3149	.	89	Q8NG98	OR7D4_HUMAN	N	89	ENSP00000310488:S89N	ENSP00000310488:S89N	S	-	2	0	OR7D4	9186248	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-3.284000	0.00527	-0.364000	0.08088	-1.379000	0.01178	AGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	C		-		9325248	-1	no_errors	ENST00000308682	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9325248	C	T	9325248	3	4	2	1	0	0	0	0	1	0	0	0	11222	797	28	2	676	2	OR7D4	19	9325248	Missense_Mutation	SNP	C	TCGA-3B-A9HJ-01A-11D-A387-09	492	9325248	49803735	8	61											
ZSWIM4	65249	genome.wustl.edu	37	chr19	13919958	13919958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccgagcagttcctgcaGgacacgcgcctggccctgtg	13	14	0	1			TCGA-3B-A9HJ-01A-11D-A387-09	TCGA-3B-A9HJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18382739-a33f-49e6-856f-fcf720c49363	dd637e7a-2892-4bd4-b8ad-ef88f676791d	g.chr19:13919958G>A	ENST00000254323.2	+	5	1125	c.936G>A	c.(934-936)caG>caA	p.Q312Q	ZSWIM4_ENST00000440752.2_Silent_p.Q29Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	312							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGTTCCTGCAGGACACGCGCC	0.682																																																	0								ENSG00000132003						45	50	48					19																	13919958		2202	4300	6502	ZSWIM4	SO:0001819	synonymous_variant	0			-	HGNC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.936G>A	19.37:g.13919958G>A		Somatic	0	47	0		0.539295380647188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	91	16.51		Silent	SNP							pfscan_Znf_SWIM	p.Q312	ENST00000254323.2	37	c.936	CCDS32924.1	19																																																																																			-	NULL		0.682	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	protein_coding	OTTHUMT00000457457.1	G	XM_031342	-		13919958	1	no_errors	ENST00000254323	ensembl	human	known	74_37	silent	SNP	1.000	A	A	13919958	G	A	13919958	2	1	2	1	0	0	0	0	0	0	0	1	18250	991	35	2		2	ZSWIM4	19	13919958	Silent	SNP	G	TCGA-3B-A9HJ-01A-11D-A387-09	4594710	13919958	45209025	9	62											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12919081	12919081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtatcgctgatgaagacgCttcatctggagccattgaaa	11	8	2	4	rs45443899	byFrequency	TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:12919081C>A	ENST00000240189.2	+	2	304	c.217C>A	c.(217-219)Ctt>Att	p.L73I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	73					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)		GATGAAGACGCTTCATCTGGA	0.557																																																	0								ENSG00000120952						154	164	161					1																	12919081		2201	4296	6497	PRAMEF2	SO:0001583	missense	0			-	HGNC		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.217C>A	1.37:g.12919081C>A	ENSP00000240189:p.Leu73Ile	Somatic	0	54	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	64	31.91		Missense_Mutation	SNP							NULL	p.L73I	ENST00000240189.2	37	c.217	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	9.162	1.019047	0.19355	.	.	ENSG00000120952	ENST00000240189	T	0.16324	2.35	0.842	0.842	0.18927	.	0.886493	0.09599	N	0.780473	T	0.19327	0.0464	L	0.49126	1.545	0.09310	N	1	P	0.48503	0.911	P	0.47430	0.547	T	0.18272	-1.0342	10	0.56958	D	0.05	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	73	O60811	PRAM2_HUMAN	I	73	ENSP00000240189:L73I	ENSP00000240189:L73I	L	+	1	0	PRAMEF2	12841668	0.000000	0.05858	0.055000	0.19348	0.048000	0.14542	0.446000	0.21694	0.759000	0.33084	0.194000	0.17425	CTT	-	NULL		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	C	NM_023014	-		12919081	1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	SNP	0.084	A	A	12919081	C	A	12919081	3	1	3	1	0	0	0	0	1	0	0	0	12440	797	28	3	219	3	PRAMEF2	1	12919081	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09		12919081	236331540	1	63											
SRRM1	10250	genome.wustl.edu	37	chr1	24981479	24981479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtaggttatctccttcaGcaagtcctccaaggcgaagg	10	12	2	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:24981479G>T	ENST00000323848.9	+	9	1489	c.1174G>T	c.(1174-1176)Gca>Tca	p.A392S	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.Q273H|SRRM1_ENST00000374389.4_Missense_Mutation_p.A387S|SRRM1_ENST00000447431.2_Missense_Mutation_p.A392S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	392	Arg-rich.|Necessary for speckles and matrix localization.|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)			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)		ATCTCCTTCAGCAAGTCCTCC	0.542																																					Ovarian(68;897 1494 3282 17478)												0								ENSG00000133226						109	103	105					1																	24981479		2203	4300	6503	SRRM1	SO:0001583	missense	0			-	HGNC	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.1174G>T	1.37:g.24981479G>T	ENSP00000326261:p.Ala392Ser	Somatic	0	30	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	O60585|Q5VVN4	Missense_Mutation	SNP							pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.A392S	ENST00000323848.9	37	c.1174	CCDS255.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.480801|2.480801	0.44044|0.44044	.|.	.|.	ENSG00000133226|ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389|ENST00000537199	T;T;T|T	0.44881|0.52526	0.91;0.94;0.91|0.66	5.84|5.84	3.79|3.79	0.43588|0.43588	.|.	0.210029|.	0.32785|.	N|.	0.005643|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.02315|0.02315	-0.6|-0.6	0.18873|0.18873	N|N	0.999981|0.999981	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.22836|0.22836	-1.0205|-1.0205	10|7	0.17832|0.87932	T|D	0.49|0	-2.9176|-2.9176	10.4443|10.4443	0.44483|0.44483	0.07:0.0:0.7115:0.2185|0.07:0.0:0.7115:0.2185	.|.	392;392|.	E9PCT1;Q8IYB3|.	.;SRRM1_HUMAN|.	S|H	392;392;387|273	ENSP00000326261:A392S;ENSP00000391430:A392S;ENSP00000363510:A387S|ENSP00000441776:Q273H	ENSP00000326261:A392S|ENSP00000441776:Q273H	A|Q	+|+	1|3	0|2	SRRM1|SRRM1	24854066|24854066	0.968000|0.968000	0.33430|0.33430	0.996000|0.996000	0.52242|0.52242	0.999000|0.999000	0.98932|0.98932	2.828000|2.828000	0.48120|0.48120	1.471000|1.471000	0.48121|0.48121	0.650000|0.650000	0.86243|0.86243	GCA|CAG	-	NULL		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	protein_coding	OTTHUMT00000009292.2	G	NM_005839	-		24981479	1	no_errors	ENST00000447431	ensembl	human	known	74_37	missense	SNP	0.678	T	T	24981479	G	T	24981479	3	4	3	1	0	0	0	0	1	0	0	0	15175	971	34	3	1208	3	SRRM1	1	24981479	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	12062398	24981479	224269142	2	64											
PHTF1	10745	genome.wustl.edu	37	chr1	114281367	114281367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaacctctgattaagtcaaCgtcaatcaagtctggcttta	6	10	5	1	rs376636226		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:114281367C>T	ENST00000369604.1	-	4	640	c.157G>A	c.(157-159)Gtt>Att	p.V53I	PHTF1_ENST00000393357.2_Missense_Mutation_p.V53I|PHTF1_ENST00000369596.2_Missense_Mutation_p.V53I|PHTF1_ENST00000369600.1_Missense_Mutation_p.V53I|PHTF1_ENST00000447664.2_Missense_Mutation_p.V53I|PHTF1_ENST00000357783.2_Missense_Mutation_p.V53I|PHTF1_ENST00000369598.1_Missense_Mutation_p.V53I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	53					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		ATTAAGTCAACGTCAATCAAG	0.294																																																	0								ENSG00000116793	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	149	156	153		157	4.8	1	1		153	0,8600		0,0,4300	no	missense	PHTF1	NM_006608.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	53/763	114281367	1,13005	2203	4300	6503	PHTF1	SO:0001583	missense	0			-	HGNC	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.157G>A	1.37:g.114281367C>T	ENSP00000358617:p.Val53Ile	Somatic	0	61	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	84	38.69	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP							pfam_TF_homeodomain_male	p.V53I	ENST00000369604.1	37	c.157	CCDS861.1	1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080172	0.55753	2.27E-4	0.0	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664;ENST00000446739	.	.	.	5.68	4.77	0.60923	Transcription factor homeodomain, male germ-cell (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.63880	0.964;0.964;0.993;0.982	P;B;P;P	0.51945	0.477;0.437;0.62;0.685	T	0.71272	-0.4642	9	0.46703	T	0.11	-19.2185	12.9872	0.58598	0.0:0.9254:0.0:0.0746	.	53;53;53;53	F5H7M5;Q9UMS5;B4DGS8;Q9UMS5-2	.;PHTF1_HUMAN;.;.	I	53	.	ENSP00000350428:V53I	V	-	1	0	PHTF1	114082890	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	7.645000	0.83430	1.413000	0.46997	-0.145000	0.13849	GTT	-	pfam_TF_homeodomain_male		0.294	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	protein_coding	OTTHUMT00000032666.1	C	NM_006608	-		114281367	-1	no_errors	ENST00000369604	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114281367	C	T	114281367	3	4	3	1	0	0	0	0	1	0	0	0	11864	536	19	1	2195	1	PHTF1	1	114281367	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	89299888	114281367	134969254	3	65											
SLC22A15	55356	genome.wustl.edu	37	chr1	116574007	116574007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcattcctgaatcacctcGttggttatactcccagggtc	7	12	2	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:116574007G>A	ENST00000369503.4	+	6	879	c.749G>A	c.(748-750)cGt>cAt	p.R250H	SLC22A15_ENST00000369502.1_Intron	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	250					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAATCACCTCGTTGGTTATAC	0.468																																																	0								ENSG00000163393						64	63	63					1																	116574007		1963	4142	6105	SLC22A15	SO:0001583	missense	0			-	HGNC	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.749G>A	1.37:g.116574007G>A	ENSP00000358515:p.Arg250His	Somatic	0	21	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R250H	ENST00000369503.4	37	c.749	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.196417	0.94960	.	.	ENSG00000163393	ENST00000369503	T	0.79653	-1.29	4.81	4.81	0.61882	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93947	0.7228	10	0.87932	D	0	.	18.0583	0.89369	0.0:0.0:1.0:0.0	.	250	Q8IZD6	S22AF_HUMAN	H	250	ENSP00000358515:R250H	ENSP00000358515:R250H	R	+	2	0	SLC22A15	116375530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.973000	0.93428	2.498000	0.84270	0.655000	0.94253	CGT	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.468	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	protein_coding	OTTHUMT00000033220.2	G	NM_018420	-		116574007	1	no_errors	ENST00000369503	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116574007	G	A	116574007	3	1	3	1	0	0	0	0	1	0	0	0	14454	1145	40	1	771	1	SLC22A15	1	116574007	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	2292640	116574007	132676614	4	66											
CD58	965	genome.wustl.edu	37	chr1	117087035	117087035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagatagtgaggctacCtgacacagtgtctaaataaa	10	6	1	3	rs369159196		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:117087035C>T	ENST00000369489.5	-	2	328	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	CD58_ENST00000457047.2_Missense_Mutation_p.G88S|CD58_ENST00000369487.3_Missense_Mutation_p.G88S	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	88	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTGAGGCTACCTGACACAGTG	0.338																																																	0								ENSG00000116815						97	99	98					1																	117087035		2202	4300	6502	CD58	SO:0001583	missense	0			-	HGNC	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.262G>A	1.37:g.117087035C>T	ENSP00000358501:p.Gly88Ser	Somatic	0	31	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	50	31.51	A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP							NULL	p.G88S	ENST00000369489.5	37	c.262	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069261	0.55539	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	3.71	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.094859	0.39475	N	0.001346	T	0.23886	0.0578	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.03545	-1.1026	10	0.22706	T	0.39	-21.9633	11.1519	0.48464	0.0:1.0:0.0:0.0	.	88;88;88	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	S	88;88;60;88	ENSP00000358501:G88S;ENSP00000409080:G88S;ENSP00000433648:G60S;ENSP00000358499:G88S	ENSP00000358499:G88S	G	-	1	0	CD58	116888558	0.012000	0.17670	0.031000	0.17742	0.004000	0.04260	1.412000	0.34714	2.063000	0.61619	0.561000	0.74099	GGT	-	NULL		0.338	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD58	protein_coding	OTTHUMT00000059036.1	C	NM_001779	-		117087035	-1	no_errors	ENST00000369489	ensembl	human	known	74_37	missense	SNP	0.056	T	T	117087035	C	T	117087035	3	4	3	1	0	0	0	0	1	0	0	0	3027	681	24	2	514	2	CD58	1	117087035	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	513028	117087035	132163586	5	67											
POGZ	23126	genome.wustl.edu	37	chr1	151384810	151384810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccaggcttatgagtatCcttcatatgctggagaaata	8	9	2	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:151384810C>T	ENST00000271715.2	-	11	2055	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	POGZ_ENST00000368863.2_Missense_Mutation_p.D486N|POGZ_ENST00000409503.1_Missense_Mutation_p.D572N|POGZ_ENST00000361398.3_Missense_Mutation_p.D528N|POGZ_ENST00000491586.1_Missense_Mutation_p.D528N|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Missense_Mutation_p.D519N|POGZ_ENST00000392723.1_Missense_Mutation_p.D528N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	581					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			TTATGAGTATCCTTCATATGC	0.398																																																	0								ENSG00000143442						96	89	91					1																	151384810		2203	4300	6503	POGZ	SO:0001583	missense	0			-	HGNC	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1741G>A	1.37:g.151384810C>T	ENSP00000271715:p.Asp581Asn	Somatic	0	19	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.D581N	ENST00000271715.2	37	c.1741	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866000	0.71949	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T	0.14766	5.88;5.91;5.88;5.87;5.9;5.9;5.34;2.48	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000003	T	0.16342	0.0393	N	0.25245	0.725	0.80722	D	1	P;D;P;D;D;P	0.71674	0.473;0.993;0.607;0.998;0.998;0.473	B;D;B;D;D;B	0.75484	0.13;0.971;0.3;0.986;0.986;0.158	T	0.05099	-1.0906	10	0.40728	T	0.16	-17.9801	17.2582	0.87063	0.0:1.0:0.0:0.0	.	519;572;486;528;528;581	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	N	528;581;528;486;572;519;528;30	ENSP00000376484:D528N;ENSP00000271715:D581N;ENSP00000354467:D528N;ENSP00000357856:D486N;ENSP00000386836:D572N;ENSP00000431259:D519N;ENSP00000418408:D528N;ENSP00000432295:D30N	ENSP00000271715:D581N	D	-	1	0	POGZ	149651434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.055000	0.49916	2.656000	0.90262	0.557000	0.71058	GAT	-	smart_Znf_C2H2-like		0.398	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	protein_coding	OTTHUMT00000034915.2	C	NM_207171	-		151384810	-1	no_errors	ENST00000271715	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151384810	C	T	151384810	3	4	3	1	0	0	0	0	1	0	0	0	12188	855	30	2	2527	2	POGZ	1	151384810	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	34297775	151384810	97865811	6	68											
S100A1	6271	genome.wustl.edu	37	chr1	153603048	153603048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcatcaacgtgttccaCgcccactcgggcaaagaggg	10	15	2	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:153603048C>T	ENST00000292169.1	+	2	164	c.51C>T	c.(49-51)caC>caT	p.H17H	S100A13_ENST00000368699.1_Intron|S100A13_ENST00000440685.2_5'Flank|RP1-178F15.4_ENST00000607839.1_RNA|S100A13_ENST00000339556.4_5'Flank|RP1-178F15.5_ENST00000497086.1_RNA|S100A1_ENST00000368696.3_Silent_p.H17H|S100A1_ENST00000469893.1_3'UTR|S100A13_ENST00000491177.1_5'UTR|S100A1_ENST00000368698.3_Silent_p.H70H|RP1-178F15.4_ENST00000469931.2_RNA	NM_006271.1	NP_006262.1	P23297	S10A1_HUMAN	S100 calcium binding protein A1	17	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762)	M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	ACGTGTTCCACGCCCACTCGG	0.582																																					Ovarian(74;601 1703 10548 31787)												0								ENSG00000160678						88	79	82					1																	153603048		2203	4300	6503	S100A1	SO:0001819	synonymous_variant	0			-	HGNC	BC014392	CCDS1047.1	1q21	2013-01-10	2001-11-28		ENSG00000160678	ENSG00000160678		"S100 calcium binding proteins", "EF-hand domain containing"	10486	protein-coding gene	gene with protein product		176940	"S100 calcium-binding protein A1"	S100A		1998503	Standard	NM_006271		Approved	S100-alpha	uc001fck.1	P23297	OTTHUMG00000037041	ENST00000292169.1:c.51C>T	1.37:g.153603048C>T		Somatic	0	38	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2R5D9|Q5T7Y3	Silent	SNP							pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.H70	ENST00000292169.1	37	c.210	CCDS1047.1	1																																																																																			-	pfam_S100_Ca-bd_sub		0.582	S100A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A1	protein_coding	OTTHUMT00000089933.1	C	NM_006271	-		153603048	1	no_errors	ENST00000368698	ensembl	human	known	74_37	silent	SNP	0.997	T	T	153603048	C	T	153603048	2	4	3	1	0	0	0	0	0	0	0	1	13779	535	19	1		1	S100A1	1	153603048	Silent	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	2218238	153603048	95647573	7	69											
OR10T2	128360	genome.wustl.edu	37	chr1	158368481	158368481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttggacttgggccgcagaTagatgatagaggcacagcca	13	9	0	4	rs139047952		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:158368481T>C	ENST00000334438.1	-	1	775	c.776A>G	c.(775-777)tAt>tGt	p.Y259C		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGGCCGCAGATAGATGATAGA	0.512																																																	0								ENSG00000186306	T	CYS/TYR	0,4406		0,0,2203	103	90	94		776	3.4	1	1	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10T2	NM_001004475.1	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	259/315	158368481	1,13005	2203	4300	6503	OR10T2	SO:0001583	missense	0			-	HGNC	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.776A>G	1.37:g.158368481T>C	ENSP00000334115:p.Tyr259Cys	Somatic	0	19	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	Q6IF98	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y259C	ENST00000334438.1	37	c.776	CCDS30895.1	1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587180	0.46110	0.0	1.16E-4	ENSG00000186306	ENST00000334438	T	0.00295	8.25	4.57	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38164	N	0.001795	T	0.00440	0.0014	M	0.94142	3.5	0.26885	N	0.96746	D	0.89917	1.0	D	0.97110	1.0	T	0.19063	-1.0317	10	0.87932	D	0	.	10.6412	0.45594	0.0:0.0:0.1616:0.8384	.	259	Q8NGX3	O10T2_HUMAN	C	259	ENSP00000334115:Y259C	ENSP00000334115:Y259C	Y	-	2	0	OR10T2	156635105	0.997000	0.39634	0.968000	0.41197	0.834000	0.47266	2.316000	0.43761	0.780000	0.33566	-0.258000	0.10820	TAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	protein_coding	OTTHUMT00000046371.1	T	NM_001004475	rs139047952		158368481	-1	no_errors	ENST00000334438	ensembl	human	known	74_37	missense	SNP	0.989	C	C	158368481	T	C	158368481	3	2	3	1	0	0	0	0	1	0	0	0	10921	1406	49	5	170	5	OR10T2	1	158368481	Missense_Mutation	SNP	T	TCGA-3B-A9HL-01A-11D-A387-09	4765433	158368481	90882140	8	70											
KIF26B	55083	genome.wustl.edu	37	chr1	245850889	245850889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacaaaagcgtcaagtccaGcagccttcccagggcctttc	8	15	1	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr1:245850889G>T	ENST00000407071.2	+	12	5044	c.4604G>T	c.(4603-4605)aGc>aTc	p.S1535I	KIF26B_ENST00000366518.4_Missense_Mutation_p.S1154I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1535					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTCAAGTCCAGCAGCCTTCCC	0.632																																																	0								ENSG00000162849						19	23	22					1																	245850889		2018	4140	6158	KIF26B	SO:0001583	missense	0			-	HGNC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4604G>T	1.37:g.245850889G>T	ENSP00000385545:p.Ser1535Ile	Somatic	0	40	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1535I	ENST00000407071.2	37	c.4604	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752543	0.31046	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78595	-1.19;-1.19	5.68	5.68	0.88126	.	.	.	.	.	T	0.76033	0.3931	M	0.63428	1.95	0.35165	D	0.771007	P;P	0.45902	0.868;0.868	B;B	0.36666	0.23;0.168	D	0.84426	0.0574	9	0.66056	D	0.02	.	19.8454	0.96706	0.0:0.0:1.0:0.0	.	1154;1535	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1535;1154;1151	ENSP00000385545:S1535I;ENSP00000355475:S1154I	ENSP00000355475:S1154I	S	+	2	0	KIF26B	243917512	1.000000	0.71417	0.998000	0.56505	0.108000	0.19459	6.018000	0.70811	2.695000	0.91970	0.555000	0.69702	AGC	-	NULL		0.632	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	protein_coding	OTTHUMT00000381037.1	G	XM_371354	-		245850889	1	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	SNP	0.999	T	T	245850889	G	T	245850889	3	4	3	1	0	0	0	0	1	0	0	0	8297	971	34	3	4650	3	KIF26B	1	245850889	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	87482408	245850889	3399732	9	71											
TTN	7273	genome.wustl.edu	37	chr2	179429737	179429737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattctaaactggtactccGtgcctgttttcagtttggtt	8	8	2	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr2:179429737G>A	ENST00000591111.1	-	276	76423	c.76199C>T	c.(76198-76200)aCg>aTg	p.T25400M	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24473M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18101M|TTN_ENST00000342175.6_Missense_Mutation_p.T18168M|TTN_ENST00000460472.2_Missense_Mutation_p.T17976M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T27041M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25400	Fibronectin type-III 84. {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)			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)			CTGGTACTCCGTGCCTGTTTT	0.393																																																	0								ENSG00000155657						136	134	134					2																	179429737		1884	4097	5981	TTN	SO:0001583	missense	0			-	HGNC	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.76199C>T	2.37:g.179429737G>A	ENSP00000465570:p.Thr25400Met	Somatic	0	29	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T24473M	ENST00000591111.1	37	c.73418		2	.	.	.	.	.	.	.	.	.	.	G	7.656	0.683867	0.14907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.88	-0.83	0.10792	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67021	0.2849	M	0.65677	2.01	0.09310	N	1	P;P;P;P	0.40083	0.702;0.702;0.702;0.702	B;B;B;B	0.41813	0.231;0.231;0.367;0.367	T	0.68029	-0.5517	9	0.87932	D	0	.	21.8457	0.99962	0.0:0.5919:0.4081:0.0	.	17976;18101;18168;25400	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	24473;17976;18168;18101;17974	ENSP00000343764:T24473M;ENSP00000434586:T17976M;ENSP00000340554:T18168M;ENSP00000352154:T18101M	ENSP00000340554:T18168M	T	-	2	0	TTN	179137983	0.577000	0.26708	0.264000	0.24511	0.990000	0.78478	0.901000	0.28445	-0.135000	0.11495	0.555000	0.69702	ACG	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179429737	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.209	A	A	179429737	G	A	179429737	3	1	3	1	0	0	0	0	1	0	0	0	16742	1145	40	1	27005	1	TTN	2	179429737	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		179429737	63769636	10	72											
TMEM40	55287	genome.wustl.edu	37	chr3	12778114	12778114	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacggtttccagggaggcGaaggtgagcaggccgacccc	15	13	0	1	rs199796616	byFrequency	TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr3:12778114G>A	ENST00000314124.7	-	10	938	c.582C>T	c.(580-582)ttC>ttT	p.F194F	TMEM40_ENST00000435575.1_Silent_p.F118F|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Silent_p.F194F|TMEM40_ENST00000435218.2_Silent_p.F164F|TMEM40_ENST00000431022.2_Silent_p.F210F	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	194						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CCAGGGAGGCGAAGGTGAGCA	0.597													G|||	2	0.000399361	8e-04	0	5008	,	,		15525	0		0.001	False		,,,				2504	0																0								ENSG00000088726						85	50	62					3																	12778114		2194	4288	6482	TMEM40	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.582C>T	3.37:g.12778114G>A		Somatic	0	55	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	55	32.93	C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP							NULL	p.F210	ENST00000314124.7	37	c.630	CCDS2613.1	3																																																																																			-	NULL		0.597	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM40	protein_coding	OTTHUMT00000252029.2	G	NM_018306	rs199796616		12778114	-1	no_errors	ENST00000431022	ensembl	human	known	74_37	silent	SNP	0.899	A	A	12778114	G	A	12778114	2	1	3	1	0	0	0	0	0	0	0	1	16170	1049	37	1		1	TMEM40	3	12778114	Silent	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		12778114	185244316	11	73											
ABTB1	80325	genome.wustl.edu	37	chr3	127395830	127395830	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccgcctggacattggcgtaGagcatgtgagtgactgtgag	16	8	0	4			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr3:127395830G>T	ENST00000232744.8	+	7	633	c.547G>T	c.(547-549)Gag>Tag	p.E183*	ABTB1_ENST00000468137.1_Nonsense_Mutation_p.E41*|ABTB1_ENST00000453791.2_Nonsense_Mutation_p.E41*|ABTB1_ENST00000393363.3_Nonsense_Mutation_p.E41*					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATTGGCGTAGAGCATGTGAG	0.627																																																	0								ENSG00000114626						50	47	48					3																	127395830		2203	4300	6503	ABTB1	SO:0001587	stop_gained	0			-	HGNC	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.547G>T	3.37:g.127395830G>T	ENSP00000232744:p.Glu183*	Somatic	0	50	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Nonsense_Mutation	SNP							pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.E183*	ENST00000232744.8	37	c.547	CCDS3045.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.098844	0.97281	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	.	.	.	4.8	3.92	0.45320	.	0.380184	0.30365	N	0.009791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-22.3617	12.5472	0.56206	0.0825:0.0:0.9175:0.0	.	.	.	.	X	41;183;41;41	.	ENSP00000232744:E183X	E	+	1	0	ABTB1	128878520	1.000000	0.71417	0.386000	0.26170	0.143000	0.21401	5.786000	0.69006	1.024000	0.39682	-0.218000	0.12543	GAG	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.627	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB1	protein_coding	OTTHUMT00000356595.1	G	NM_172027	-		127395830	1	no_errors	ENST00000232744	ensembl	human	known	74_37	nonsense	SNP	0.996	T	T	127395830	G	T	127395830	4	4	3	1	0	0	0	0	0	1	0	0	102	943	33	3	573	3	ABTB1	3	127395830	Nonsense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	114617716	127395830	70626600	12	74											
ATP11B	23200	genome.wustl.edu	37	chr3	182583358	182583358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatggtagacttgtacccGaaggaccaacaccagactct	8	11	1	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr3:182583358G>A	ENST00000323116.5	+	13	1575	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	439					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)			ACTTGTACCCGAAGGACCAAC	0.373																																																	0								ENSG00000058063						125	125	125					3																	182583358		2203	4300	6503	ATP11B	SO:0001583	missense	0			-	HGNC	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.1315G>A	3.37:g.182583358G>A	ENSP00000321195:p.Glu439Lys	Somatic	0	20	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	77	16.30	Q96FN1|Q9UKK7	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E439K	ENST00000323116.5	37	c.1315	CCDS33896.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352910	0.82132	.	.	ENSG00000058063	ENST00000323116	T	0.69685	-0.42	5.82	5.82	0.92795	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.803616	0.11588	N	0.549050	T	0.78052	0.4223	L	0.37466	1.105	0.80722	D	1	D;P	0.89917	1.0;0.694	D;B	0.75484	0.986;0.227	T	0.74780	-0.3549	10	0.48119	T	0.1	.	20.0915	0.97822	0.0:0.0:1.0:0.0	.	13;439	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	K	439	ENSP00000321195:E439K	ENSP00000321195:E439K	E	+	1	0	ATP11B	184066052	1.000000	0.71417	0.985000	0.45067	0.832000	0.47134	9.209000	0.95087	2.736000	0.93811	0.650000	0.86243	GAA	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.373	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	protein_coding	OTTHUMT00000350598.1	G	NM_014616	-		182583358	1	no_errors	ENST00000323116	ensembl	human	known	74_37	missense	SNP	1.000	A	A	182583358	G	A	182583358	3	1	3	1	0	0	0	0	1	0	0	0	1120	1059	37	1	1365	1	ATP11B	3	182583358	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	55187528	182583358	15439072	13	75											
TTC29	83894	genome.wustl.edu	37	chr4	147628647	147628647	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttatcatacctactgagttCttccaaacgttctgagtttt	5	9	3	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr4:147628647C>T	ENST00000325106.4	-	12	1613	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	TTC29_ENST00000513335.1_Missense_Mutation_p.E489K|TTC29_ENST00000398886.4_Missense_Mutation_p.E489K	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	463										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTACTGAGTTCTTCCAAACGT	0.328																																																	0								ENSG00000137473						126	121	123					4																	147628647		1819	4075	5894	TTC29	SO:0001583	missense	0			-	HGNC	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1387G>A	4.37:g.147628647C>T	ENSP00000316740:p.Glu463Lys	Somatic	0	31	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	67	27.17	A4GU95|Q9BXB6	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR-contain_dom	p.E489K	ENST00000325106.4	37	c.1465	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893006	0.33442	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	T;T;T;T	0.28069	1.63;1.63;1.69;1.68	3.56	0.871	0.19107	.	0.280190	0.27130	N	0.020792	T	0.25195	0.0612	L	0.56769	1.78	0.09310	N	1	B;B;B	0.13594	0.001;0.008;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.21690	-1.0238	10	0.59425	D	0.04	-7.5989	5.306	0.15803	0.0:0.618:0.0:0.382	.	462;489;463	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	K	489;489;463;462	ENSP00000423505:E489K;ENSP00000381861:E489K;ENSP00000316740:E463K;ENSP00000425778:E462K	ENSP00000316740:E463K	E	-	1	0	TTC29	147848097	0.001000	0.12720	0.095000	0.20976	0.314000	0.28054	0.317000	0.19487	0.153000	0.19213	0.650000	0.86243	GAA	-	NULL		0.328	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	protein_coding		C	NM_031956	-		147628647	-1	no_errors	ENST00000398886	ensembl	human	known	74_37	missense	SNP	0.128	T	T	147628647	C	T	147628647	3	4	3	1	0	0	0	0	1	0	0	0	16703	922	32	2	48	2	TTC29	4	147628647	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09		147628647	43525629	14	76											
GPR98	84059	genome.wustl.edu	37	chr5	90106134	90106134	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcatagtgtcagaagaTacacagatgatcagattaca	7	6	3	5			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr5:90106134T>C	ENST00000405460.2	+	74	15153	c.15057T>C	c.(15055-15057)gaT>gaC	p.D5019D	GPR98_ENST00000425867.2_Silent_p.D680D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5019	Calx-beta 33. {ECO:0000255}.				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)			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)		TGTCAGAAGATACACAGATGA	0.393																																																	0								ENSG00000164199						43	41	41					5																	90106134		1844	4095	5939	GPR98	SO:0001819	synonymous_variant	0			-	HGNC	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.15057T>C	5.37:g.90106134T>C		Somatic	0	39	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D5019	ENST00000405460.2	37	c.15057	CCDS47246.1	5																																																																																			-	pfam_Calx_beta,smart_Calx_beta		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	T	NM_032119	-		90106134	1	no_errors	ENST00000405460	ensembl	human	known	74_37	silent	SNP	0.010	C	C	90106134	T	C	90106134	2	2	3	1	0	0	0	0	0	0	0	1	6723	1403	49	5		5	GPR98	5	90106134	Silent	SNP	T	TCGA-3B-A9HL-01A-11D-A387-09		90106134	90809126	15	77											
DMXL1	1657	genome.wustl.edu	37	chr5	118539113	118539113	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaaaaatatattcacaaaGaaacggtgtctaaatgaggt	7	5	3	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr5:118539113G>A	ENST00000311085.8	+	33	7925	c.7845G>A	c.(7843-7845)aaG>aaA	p.K2615K	DMXL1_ENST00000539542.1_Silent_p.K2615K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2615										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATTCACAAAGAAACGGTGTC	0.323																																																	0								ENSG00000172869						75	78	77					5																	118539113		2202	4300	6502	DMXL1	SO:0001819	synonymous_variant	0			-	HGNC	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7845G>A	5.37:g.118539113G>A		Somatic	0	29	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	121	18.24		Silent	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K2615	ENST00000311085.8	37	c.7845	CCDS4125.1	5																																																																																			-	NULL		0.323	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	G	NM_005509	-		118539113	1	no_errors	ENST00000539542	ensembl	human	known	74_37	silent	SNP	1.000	A	A	118539113	G	A	118539113	2	1	3	1	0	0	0	0	0	0	0	1	4596	933	33	2		2	DMXL1	5	118539113	Silent	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	28432979	118539113	62376147	16	78											
NEUROG1	4762	genome.wustl.edu	37	chr5	134871035	134871035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagggcagcacgctgcGcagtgcgtccagggccgcgt	17	13	0	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr5:134871035G>C	ENST00000314744.4	-	1	604	c.346C>G	c.(346-348)Cgc>Ggc	p.R116G		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	116	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCACGCTGCGCAGTGCGTCC	0.657																																																	0								ENSG00000181965						38	41	40					5																	134871035		2203	4300	6503	NEUROG1	SO:0001583	missense	0			-	HGNC	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.346C>G	5.37:g.134871035G>C	ENSP00000317580:p.Arg116Gly	Somatic	0	70	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	29	49.12	Q5U0Q9|Q96HE1	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R116G	ENST00000314744.4	37	c.346	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	g	17.08	3.297503	0.60086	.	.	ENSG00000181965	ENST00000314744	D	0.98701	-5.08	4.98	4.98	0.66077	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99349	1.0914	10	0.87932	D	0	-7.746	12.0798	0.53665	0.0:0.0:0.6986:0.3014	.	116	Q92886	NGN1_HUMAN	G	116	ENSP00000317580:R116G	ENSP00000317580:R116G	R	-	1	0	NEUROG1	134898934	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.546000	0.53656	2.284000	0.76573	0.651000	0.88453	CGC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.657	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	protein_coding	OTTHUMT00000251192.1	G	NM_006161	-		134871035	-1	no_errors	ENST00000314744	ensembl	human	known	74_37	missense	SNP	1.000	C	C	134871035	G	C	134871035	3	2	3	1	0	0	0	0	1	0	0	0	10354	1087	38	4	371	4	NEUROG1	5	134871035	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	16331922	134871035	46044225	17	79											
UBR2	23304	genome.wustl.edu	37	chr6	42583771	42583771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtatatcatcagttgttcatGagcagtctgcttatggattt	9	6	4	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr6:42583771G>A	ENST00000372899.1	+	10	1383	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	UBR2_ENST00000372883.3_5'Flank|UBR2_ENST00000372901.1_Missense_Mutation_p.M375I|UBR2_ENST00000372903.2_Missense_Mutation_p.M375I	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	375					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGTTGTTCATGAGCAGTCTGC	0.338																																																	0								ENSG00000024048						211	203	206					6																	42583771		2203	4300	6503	UBR2	SO:0001583	missense	0			-	HGNC	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1125G>A	6.37:g.42583771G>A	ENSP00000361990:p.Met375Ile	Somatic	0	43	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	102	8.11	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP							pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M375I	ENST00000372899.1	37	c.1125	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120963	0.56613	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.71103	-0.54;0.55;0.55	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.33792	1.035	0.80722	D	1	D;B;B	0.63046	0.992;0.02;0.328	D;B;B	0.71656	0.974;0.034;0.111	T	0.62234	-0.6897	10	0.13108	T	0.6	7.4134	19.6467	0.95778	0.0:0.0:1.0:0.0	.	375;375;375	Q8IWV8-4;Q8IWV8;Q8IWV8-2	.;UBR2_HUMAN;.	I	375	ENSP00000361994:M375I;ENSP00000361990:M375I;ENSP00000361992:M375I	ENSP00000361990:M375I	M	+	3	0	UBR2	42691749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.020000	0.93667	2.716000	0.92895	0.655000	0.94253	ATG	-	NULL		0.338	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	protein_coding	OTTHUMT00000040558.2	G	NM_015255	-		42583771	1	no_errors	ENST00000372899	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42583771	G	A	42583771	3	1	3	1	0	0	0	0	1	0	0	0	16909	1290	45	2	1163	2	UBR2	6	42583771	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		42583771	128531296	18	80			1	1		3	3	48	G		3.537258e-09
UBR2	23304	genome.wustl.edu	37	chr6	42583801	42583801	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttatggatttgaaatacaaGaaactatttgctgttcgatt	7	5	0	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr6:42583801G>A	ENST00000372899.1	+	10	1413	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	UBR2_ENST00000372883.3_5'Flank|UBR2_ENST00000372901.1_Silent_p.K385K|UBR2_ENST00000372903.2_Silent_p.K385K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	385					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGAAATACAAGAAACTATTTG	0.343																																																	0								ENSG00000024048						194	187	189					6																	42583801		2203	4300	6503	UBR2	SO:0001819	synonymous_variant	0			-	HGNC	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1155G>A	6.37:g.42583801G>A		Somatic	0	44	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	91	10.78	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP							pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.K385	ENST00000372899.1	37	c.1155	CCDS4870.1	6																																																																																			-	NULL		0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	protein_coding	OTTHUMT00000040558.2	G	NM_015255	-		42583801	1	no_errors	ENST00000372899	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42583801	G	A	42583801	2	1	3	1	0	0	0	0	0	0	0	1	16909	933	33	2		2	UBR2	6	42583801	Silent	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	30	42583801	128531266	19	81			1	1		3	3	48	G		3.537258e-09
UBR2	23304	genome.wustl.edu	37	chr6	42583818	42583818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagaaactatttgctgttcGatttgcaaaagtaagtggct	9	6	0	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr6:42583818G>A	ENST00000372899.1	+	10	1430	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	UBR2_ENST00000372883.3_5'Flank|UBR2_ENST00000372901.1_Missense_Mutation_p.R391Q|UBR2_ENST00000372903.2_Missense_Mutation_p.R391Q	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	391					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R391P(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTGCTGTTCGATTTGCAAAA	0.313																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000024048						166	160	162					6																	42583818		2203	4300	6503	UBR2	SO:0001583	missense	0			-	HGNC	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1172G>A	6.37:g.42583818G>A	ENSP00000361990:p.Arg391Gln	Somatic	0	40	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	80	13.04	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP							pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R391Q	ENST00000372899.1	37	c.1172	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454776	0.43634	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.71222	-0.55;0.45;0.45	5.45	5.45	0.79879	.	0.062532	0.64402	D	0.000002	T	0.40322	0.1112	N	0.20401	0.57	0.80722	D	1	B;B;B	0.19583	0.037;0.002;0.02	B;B;B	0.14023	0.01;0.001;0.006	T	0.46498	-0.9187	10	0.07990	T	0.79	-12.8367	19.6467	0.95778	0.0:0.0:1.0:0.0	.	391;391;391	Q8IWV8-4;Q8IWV8;Q8IWV8-2	.;UBR2_HUMAN;.	Q	391	ENSP00000361994:R391Q;ENSP00000361990:R391Q;ENSP00000361992:R391Q	ENSP00000361990:R391Q	R	+	2	0	UBR2	42691796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.755000	0.68750	2.716000	0.92895	0.655000	0.94253	CGA	-	NULL		0.313	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	protein_coding	OTTHUMT00000040558.2	G	NM_015255	-		42583818	1	no_errors	ENST00000372899	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42583818	G	A	42583818	3	1	3	1	0	0	0	0	1	0	0	0	16909	1058	37	1	1210	1	UBR2	6	42583818	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	17	42583818	128531249	20	82			1	1		3	3	48	G		3.537258e-09
FZD6	8323	genome.wustl.edu	37	chr8	104336784	104336784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcctcagaagaaaacAgaacaagtccaaagagacat	8	9	1	4			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr8:104336784A>G	ENST00000358755.4	+	4	767	c.450A>G	c.(448-450)acA>acG	p.T150T	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Silent_p.T150T|FZD6_ENST00000523739.1_Silent_p.T118T	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	150					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGAAGAAAACAGAACAAGTCC	0.383																																																	0								ENSG00000164930						56	61	59					8																	104336784		2203	4300	6503	FZD6	SO:0001819	synonymous_variant	0			-	HGNC	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.450A>G	8.37:g.104336784A>G		Somatic	0	43	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	75	23.47	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.T150	ENST00000358755.4	37	c.450	CCDS6298.1	8																																																																																			-	NULL		0.383	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	protein_coding	OTTHUMT00000380560.1	A	NM_003506	-		104336784	1	no_errors	ENST00000358755	ensembl	human	known	74_37	silent	SNP	0.991	G	G	104336784	A	G	104336784	2	3	3	1	0	0	0	0	0	0	0	1	6136	175	7	5		5	FZD6	8	104336784	Silent	SNP	A	TCGA-3B-A9HL-01A-11D-A387-09		104336784	42027238	21	83											
KIAA1161	57462	genome.wustl.edu	37	chr9	34371506	34371506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgctggggtccggcagcGgccggtaggtgctgaagtcc	18	11	0	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr9:34371506G>A	ENST00000297625.7	-	2	1559	c.1334C>T	c.(1333-1335)cCg>cTg	p.P445L		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	479					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GTCCGGCAGCGGCCGGTAGGT	0.672																																																	0								ENSG00000164976						11	15	14					9																	34371506		2078	4185	6263	KIAA1161	SO:0001583	missense	0			-	HGNC	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1334C>T	9.37:g.34371506G>A	ENSP00000297625:p.Pro445Leu	Somatic	0	28	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	6	62.50	Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP							pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.P445L	ENST00000297625.7	37	c.1334		9	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536143	0.64972	.	.	ENSG00000164976	ENST00000297625	D	0.91011	-2.77	5.27	4.36	0.52297	Glycoside hydrolase, superfamily (1);	0.109422	0.64402	D	0.000005	D	0.93959	0.8066	M	0.77616	2.38	0.58432	D	0.999992	D	0.76494	0.999	P	0.59948	0.866	D	0.93806	0.7105	10	0.51188	T	0.08	-17.2791	14.0966	0.65027	0.0:0.0:0.8488:0.1512	.	479	Q6NSJ0	K1161_HUMAN	L	445	ENSP00000297625:P445L	ENSP00000297625:P445L	P	-	2	0	KIAA1161	34361506	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	4.409000	0.59768	1.193000	0.43086	0.462000	0.41574	CCG	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.672	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	protein_coding	OTTHUMT00000052158.1	G	XM_351807	-		34371506	-1	no_errors	ENST00000297625	ensembl	human	known	74_37	missense	SNP	0.994	A	A	34371506	G	A	34371506	3	1	3	1	0	0	0	0	1	0	0	0	8213	1116	39	1	712	1	KIAA1161	9	34371506	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		34371506	106841925	22	84											
PTCH1	5727	genome.wustl.edu	37	chr9	98239127	98239127	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaccaacaccaagagcgaGaaatggcaaaacctacagca	7	13	0	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr9:98239127G>C	ENST00000331920.6	-	11	1815	c.1516C>G	c.(1516-1518)Ctc>Gtc	p.L506V	PTCH1_ENST00000437951.1_Missense_Mutation_p.L440V|PTCH1_ENST00000429896.2_Missense_Mutation_p.L355V|PTCH1_ENST00000430669.2_Missense_Mutation_p.L440V|PTCH1_ENST00000375274.2_Missense_Mutation_p.L505V|PTCH1_ENST00000418258.1_Missense_Mutation_p.L355V|PTCH1_ENST00000421141.1_Missense_Mutation_p.L355V	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	506	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.		FL -> LR (in BCNS).		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)			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)				CCAAGAGCGAGAAATGGCAAA	0.438																																																	0								ENSG00000185920						140	108	119					9																	98239127		2203	4300	6503	PTCH1	SO:0001583	missense	0			-	HGNC	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.1516C>G	9.37:g.98239127G>C	ENSP00000332353:p.Leu506Val	Somatic	0	21	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	50	35.06	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L506V	ENST00000331920.6	37	c.1516	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199427	0.58126	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.78801	2.425	0.58432	D	0.999991	D;D;P;D	0.89917	1.0;0.966;0.938;0.972	D;P;P;P	0.87578	0.998;0.747;0.801;0.836	D	0.99609	1.0980	10	0.62326	D	0.03	-22.7339	16.6136	0.84901	0.0:0.13:0.87:0.0	.	355;440;505;506	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	V	506;440;355;355;440;355;505;171	ENSP00000332353:L506V;ENSP00000389744:L440V;ENSP00000399981:L355V;ENSP00000396135:L355V;ENSP00000410287:L440V;ENSP00000414823:L355V;ENSP00000364423:L505V;ENSP00000364420:L171V	ENSP00000332353:L506V	L	-	1	0	PTCH1	97278948	1.000000	0.71417	0.934000	0.37439	0.531000	0.34715	4.271000	0.58902	1.562000	0.49601	0.655000	0.94253	CTC	-	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched		0.438	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	protein_coding	OTTHUMT00000053229.2	G	NM_000264	-		98239127	-1	no_errors	ENST00000331920	ensembl	human	known	74_37	missense	SNP	1.000	C	C	98239127	G	C	98239127	3	2	3	1	0	0	0	0	1	0	0	0	12735	942	33	4	2879	4	PTCH1	9	98239127	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	63867621	98239127	42974304	23	85											
C10orf79	80217	genome.wustl.edu	37	chr10	105944776	105944776	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgaatactgtacgtacttCcactttaggtagacaagggt	9	8	0	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr10:105944776C>T	ENST00000278064.2	-	16	2257	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	WDR96_ENST00000357060.3_Nonsense_Mutation_p.W713*|WDR96_ENST00000428666.1_Nonsense_Mutation_p.W714*																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTACGTACTTCCACTTTAGGT	0.403																																																	0								ENSG00000197748						200	172	182					10																	105944776		2203	4300	6503	WDR96	SO:0001587	stop_gained	0			-	HGNC																												ENST00000278064.2:c.1932G>A	10.37:g.105944776C>T	ENSP00000278064:p.Trp644*	Somatic	0	34	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82		Nonsense_Mutation	SNP							superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.W713*	ENST00000278064.2	37	c.2139		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.536514|8.536514	0.98854|0.98854	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000434629|ENST00000357060;ENST00000428666;ENST00000278064	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.260238	.|0.32703	.|N	.|0.005760	T|.	0.69967|.	0.3170|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71457|.	-0.4587|.	3|.	.|0.33141	.|T	.|0.24	.|.	16.1676|16.1676	0.81782|0.81782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	74|713;714;644	.|.	.|ENSP00000278064:W644X	G|W	-|-	2|3	0|0	WDR96|WDR96	105934766|105934766	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.638000|0.638000	0.38207|0.38207	4.369000|4.369000	0.59511|0.59511	2.403000|2.403000	0.81681|0.81681	0.655000|0.655000	0.94253|0.94253	GGA|TGG	-	superfamily_WD40_repeat_dom		0.403	WDR96-003	KNOWN	basic	protein_coding	WDR96	protein_coding	OTTHUMT00000050200.1	C		-		105944776	-1	no_errors	ENST00000357060	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	105944776	C	T	105944776	4	4	3	1	0	0	0	0	0	1	0	0	1620	856	30	2	2950	2	C10orf79	10	105944776	Nonsense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09		105944776	29589971	24	86											
EMX2	2018	genome.wustl.edu	37	chr10	119307608	119307608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagaaccgaagaacaaaGttcaaaaggcagaagctgga	10	7	2	3			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr10:119307608G>T	ENST00000553456.3	+	3	1448	c.624G>T	c.(622-624)aaG>aaT	p.K208N	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Missense_Mutation_p.V147F	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	208					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GAAGAACAAAGTTCAAAAGGC	0.488																																																	0								ENSG00000170370						56	51	53					10																	119307608		2203	4300	6503	EMX2	SO:0001583	missense	0			-	HGNC	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.624G>T	10.37:g.119307608G>T	ENSP00000450962:p.Lys208Asn	Somatic	0	34	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.K208N	ENST00000553456.3	37	c.624	CCDS7601.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.545742|4.545742	0.86022|0.86022	.|.	.|.	ENSG00000170370|ENSG00000258614	ENST00000369201|ENST00000553456	.|.	.|.	.|.	5.31|5.31	2.38|2.38	0.29361|0.29361	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64327|0.64327	0.2588|0.2588	M|M	0.93898|0.93898	3.47|3.47	0.28467|0.28467	N|N	0.915583|0.915583	D|P	0.89917|0.39250	1.0|0.665	D|B	0.97110|0.41088	1.0|0.347	T|T	0.63051|0.63051	-0.6723|-0.6723	9|7	0.87932|.	D|.	0|.	-18.7931|-18.7931	9.8207|9.8207	0.40880|0.40880	0.2285:0.0:0.7715:0.0|0.2285:0.0:0.7715:0.0	.|.	208|147	Q04743|G3V305	EMX2_HUMAN|.	N|F	208|147	.|.	ENSP00000358202:K208N|.	K|V	+|+	3|1	2|0	EMX2|AC005871.1	119297598|119297598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.399000|2.399000	0.44495|0.44495	0.597000|0.597000	0.29811|0.29811	0.549000|0.549000	0.68633|0.68633	AAG|GTT	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif		0.488	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	protein_coding	OTTHUMT00000050569.4	G	NM_004098	-		119307608	1	no_errors	ENST00000553456	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119307608	G	T	119307608	3	4	3	1	0	0	0	0	1	0	0	0	5110	1029	36	3	634	3	EMX2	10	119307608	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	13362832	119307608	16227139	25	87											
INPP5F	22876	genome.wustl.edu	37	chr10	121565903	121565903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggggtaatatgtaagcagGaagggatttttcgtgttaat	13	3	0	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr10:121565903G>A	ENST00000361976.2	+	12	1517	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	753	5-phosphatase.		D -> G (in OCRL; dbSNP:rs137853850). {ECO:0000269|PubMed:9199559}.|D -> N (in OCRL; dbSNP:rs137853838). {ECO:0000269|PubMed:21031565}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATGTAAGCAGGAAGGGATTTT	0.383																																																	0								ENSG00000198825						120	116	118					10																	121565903		2203	4300	6503	INPP5F	SO:0001583	missense	0			-	HGNC	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1351G>A	10.37:g.121565903G>A	ENSP00000354519:p.Glu451Lys	Somatic	0	30	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP							pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.E451K	ENST00000361976.2	37	c.1351	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	G	9.984	1.228905	0.22542	.	.	ENSG00000198825	ENST00000361976	T	0.21543	2.0	5.5	5.5	0.81552	Synaptojanin, N-terminal (1);	0.111092	0.64402	D	0.000012	T	0.08714	0.0216	N	0.02247	-0.625	0.80722	D	1	B	0.30193	0.272	B	0.23419	0.046	T	0.19614	-1.0300	10	0.05833	T	0.94	-28.7048	19.425	0.94737	0.0:0.0:1.0:0.0	.	451	Q9Y2H2	SAC2_HUMAN	K	451	ENSP00000354519:E451K	ENSP00000354519:E451K	E	+	1	0	INPP5F	121555893	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	7.696000	0.84270	2.584000	0.87258	0.563000	0.77884	GAA	-	pfscan_Syja_N		0.383	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	protein_coding	OTTHUMT00000050679.1	G	NM_014937	-		121565903	1	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121565903	G	A	121565903	3	1	3	1	0	0	0	0	1	0	0	0	7760	1175	41	2	1397	2	INPP5F	10	121565903	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	2258295	121565903	13968844	26	88											
GTF2H1	2965	genome.wustl.edu	37	chr11	18369142	18369142	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatttctcacagggctatgGcatttcctctgtgccatctg	8	11	3	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr11:18369142G>C	ENST00000265963.4	+	8	1005	c.845G>C	c.(844-846)gGc>gCc	p.G282A	GTF2H1_ENST00000524753.4_Missense_Mutation_p.G78A|GTF2H1_ENST00000530496.2_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.G282A|GTF2H1_ENST00000534641.1_Missense_Mutation_p.G166A	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	282					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGGGCTATGGCATTTCCTCT	0.363								Nucleotide excision repair (NER)																																									0								ENSG00000110768						39	37	38					11																	18369142		2199	4293	6492	GTF2H1	SO:0001583	missense	0			-	HGNC		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.845G>C	11.37:g.18369142G>C	ENSP00000265963:p.Gly282Ala	Somatic	0	26	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP							pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.G282A	ENST00000265963.4	37	c.845	CCDS7838.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362036	0.82353	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.34275	1.68;1.64;1.68;1.37	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.68317	2.08	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.46665	-0.9175	10	0.29301	T	0.29	-8.6112	19.8506	0.96738	0.0:0.0:1.0:0.0	.	282	P32780	TF2H1_HUMAN	A	282;166;282;78	ENSP00000393638:G282A;ENSP00000435375:G166A;ENSP00000265963:G282A;ENSP00000436575:G78A	ENSP00000265963:G282A	G	+	2	0	GTF2H1	18325718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.882000	0.92420	2.686000	0.91538	0.655000	0.94253	GGC	-	NULL		0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	protein_coding	OTTHUMT00000395627.2	G	NM_005316	-		18369142	1	no_errors	ENST00000265963	ensembl	human	known	74_37	missense	SNP	1.000	C	C	18369142	G	C	18369142	3	2	3	1	0	0	0	0	1	0	0	0	6862	1203	42	4	871	4	GTF2H1	11	18369142	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		18369142	116637374	27	89											
PPP2R1B	5519	genome.wustl.edu	37	chr11	111631590	111631590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgccctgggatagcaaacGctgaacaaaccacatgcaga	10	11	0	2	rs186368063		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr11:111631590G>T	ENST00000527614.1	-	4	557	c.492C>A	c.(490-492)agC>agA	p.S164R	PPP2R1B_ENST00000393055.2_Intron|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.S164R|PPP2R1B_ENST00000427203.2_Intron|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.S164R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.S100R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	164					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GATAGCAAACGCTGAACAAAC	0.433																																																	0								ENSG00000137713						91	82	85					11																	111631590		2201	4297	6498	PPP2R1B	SO:0001583	missense	0			-	HGNC	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.492C>A	11.37:g.111631590G>T	ENSP00000437193:p.Ser164Arg	Somatic	0	34	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S164R	ENST00000527614.1	37	c.492	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355337	0.61293	.	.	ENSG00000137713	ENST00000311129;ENST00000426998;ENST00000527614;ENST00000341980	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.96	0.338	0.15974	Armadillo-like helical (1);Armadillo-type fold (1);	0.037215	0.85682	D	0.000000	T	0.18800	0.0451	M	0.90977	3.165	0.80722	D	1	B;D;P;D	0.61697	0.296;0.99;0.464;0.983	B;P;P;P	0.52066	0.225;0.491;0.497;0.689	T	0.08166	-1.0735	10	0.62326	D	0.03	-11.6753	9.4798	0.38893	0.4711:0.0:0.5289:0.0	.	164;100;164;164	F8W8G1;B4DWW5;P30154;P30154-2	.;.;2AAB_HUMAN;.	R	164;100;164;164	ENSP00000311344:S164R;ENSP00000410671:S100R;ENSP00000437193:S164R;ENSP00000343317:S164R	ENSP00000311344:S164R	S	-	3	2	PPP2R1B	111136800	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	1.774000	0.38573	0.141000	0.18875	-0.126000	0.14955	AGC	-	superfamily_ARM-type_fold		0.433	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	protein_coding	OTTHUMT00000391298.1	G	NM_002716	-		111631590	-1	no_errors	ENST00000311129	ensembl	human	known	74_37	missense	SNP	0.988	T	T	111631590	G	T	111631590	3	4	3	1	0	0	0	0	1	0	0	0	12388	1078	38	3	1584	3	PPP2R1B	11	111631590	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	93262448	111631590	23374926	28	90											
WNK1	65125	genome.wustl.edu	37	chr12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A													gttggtacgggaggagcaagINSaaaaaaaaaagcaggaagag							TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					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)	p.?(1)		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)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)						ENSG00000060237																																			WNK1	SO:0001589	frameshift_variant	0				HGNC	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.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs	Somatic	0	17	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			-	NULL		0.47	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	-	NM_018979			970297	1	no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	970297	-	A	970296	7	5	3	1	0	1	1	0	0	0	0	0	17384	943	33	0	1764	0	WNK1	12	970296	Frame_Shift_Ins	INS	-	TCGA-3B-A9HL-01A-11D-A387-09		970296	132881599	29	91											
KRT3	3850	genome.wustl.edu	37	chr12	53185508	53185508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgatctctgcccgcagCctctggatcattctgttgag	9	15	4	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:53185508C>A	ENST00000417996.2	-	6	1355	c.1281G>T	c.(1279-1281)agG>agT	p.R427S	KRT3_ENST00000309505.3_Missense_Mutation_p.R427S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	427	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGCCCGCAGCCTCTGGATCA	0.567																																																	0								ENSG00000186442						116	117	117					12																	53185508		2203	4300	6503	KRT3	SO:0001583	missense	0			-	HGNC		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1281G>T	12.37:g.53185508C>A	ENSP00000413479:p.Arg427Ser	Somatic	0	78	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NIS2|Q701L8	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R427S	ENST00000417996.2	37	c.1281	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977374	0.53720	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.78126	-1.15;-1.15	4.02	3.11	0.35812	Filament (1);	0.000000	0.50627	D	0.000113	D	0.84410	0.5466	M	0.72353	2.195	0.38129	D	0.938082	D	0.89917	1.0	D	0.70935	0.971	D	0.85752	0.1344	10	0.87932	D	0	.	8.858	0.35240	0.0:0.8225:0.0:0.1775	.	427	P12035	K2C3_HUMAN	S	427	ENSP00000413479:R427S;ENSP00000312206:R427S	ENSP00000312206:R427S	R	-	3	2	KRT3	51471775	0.298000	0.24417	1.000000	0.80357	0.761000	0.43186	-0.097000	0.11042	1.016000	0.39470	0.462000	0.41574	AGG	-	pfam_IF,superfamily_Prefoldin		0.567	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	protein_coding	OTTHUMT00000405930.1	C	NM_057088	-		53185508	-1	no_errors	ENST00000309505	ensembl	human	known	74_37	missense	SNP	0.998	A	A	53185508	C	A	53185508	3	1	3	1	0	0	0	0	1	0	0	0	8468	738	26	3	621	3	KRT3	12	53185508	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	52215212	53185508	80666387	30	92											
SOAT2	8435	genome.wustl.edu	37	chr12	53516922	53516922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttcctggtctccgcaGtggcccatgagtatatcttc	11	11	2	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:53516922G>T	ENST00000301466.3	+	13	1354	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	432					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GGTCTCCGCAGTGGCCCATGA	0.572																																																	0								ENSG00000167780						243	186	205					12																	53516922		2203	4300	6503	SOAT2	SO:0001583	missense	0			-	HGNC	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1294G>T	12.37:g.53516922G>T	ENSP00000301466:p.Val432Leu	Somatic	0	77	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP							pfam_MBOAT_fam	p.V432L	ENST00000301466.3	37	c.1294	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920952	0.33908	.	.	ENSG00000167780	ENST00000301466	T	0.75589	-0.95	4.98	2.09	0.27110	.	0.438295	0.24412	N	0.038760	T	0.53286	0.1787	N	0.20401	0.57	0.34962	D	0.752253	B	0.13594	0.008	B	0.17722	0.019	T	0.48547	-0.9026	10	0.41790	T	0.15	-14.228	3.3201	0.07047	0.1551:0.1354:0.5701:0.1394	.	432	O75908	SOAT2_HUMAN	L	432	ENSP00000301466:V432L	ENSP00000301466:V432L	V	+	1	0	SOAT2	51803189	0.028000	0.19301	0.380000	0.26093	0.931000	0.56810	0.255000	0.18333	0.357000	0.24183	0.561000	0.74099	GTG	-	pfam_MBOAT_fam		0.572	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	protein_coding	OTTHUMT00000405817.1	G		-		53516922	1	no_errors	ENST00000301466	ensembl	human	known	74_37	missense	SNP	0.649	T	T	53516922	G	T	53516922	3	4	3	1	0	0	0	0	1	0	0	0	14919	1029	36	3	1344	3	SOAT2	12	53516922	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	331414	53516922	80334973	31	93											
AGAP2	116986	genome.wustl.edu	37	chr12	58121737	58121737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taccttgaccttgctgctctCacagcattgcagactggcta	8	13	1	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:58121737C>T	ENST00000547588.1	-	15	2748	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	AGAP2-AS1_ENST00000542466.2_3'UTR|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Missense_Mutation_p.E561K	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	917					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTGCTGCTCTCACAGCATTGC	0.592																																																	0								ENSG00000135439						232	215	221					12																	58121737		2203	4300	6503	AGAP2	SO:0001583	missense	0			-	HGNC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2749G>A	12.37:g.58121737C>T	ENSP00000449241:p.Glu917Lys	Somatic	0	39	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	194	19.17	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E917K	ENST00000547588.1	37	c.2749	CCDS44932.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425230	0.83667	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.16743	2.32;2.32	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	M	0.64080	1.96	0.80722	D	1	P;B;B	0.45957	0.869;0.199;0.126	P;B;B	0.44696	0.458;0.144;0.068	T	0.03413	-1.1039	10	0.66056	D	0.02	.	17.4429	0.87570	0.0:1.0:0.0:0.0	.	561;917;917	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	K	561;917	ENSP00000257897:E561K;ENSP00000449241:E917K	ENSP00000257897:E561K	E	-	1	0	AGAP2	56408004	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.878000	0.63093	2.480000	0.83734	0.655000	0.94253	GAG	-	NULL		0.592	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	protein_coding	OTTHUMT00000408367.1	C	NM_014770	-		58121737	-1	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58121737	C	T	58121737	3	4	3	1	0	0	0	0	1	0	0	0	368	835	29	2	849	2	AGAP2	12	58121737	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	4604815	58121737	75730158	32	94											
IFNG	3458	genome.wustl.edu	37	chr12	68551748	68551748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctttttgttgctattgaaaAacttgacattcatgtcttcc	5	8	3	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:68551748A>T	ENST00000229135.3	-	3	442	c.311T>A	c.(310-312)tTt>tAt	p.F104Y	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	104					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	GCTATTGAAAAACTTGACATT	0.353																																																	0								ENSG00000111537						157	157	157					12																	68551748		2203	4300	6503	IFNG	SO:0001583	missense	0			-	HGNC		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.311T>A	12.37:g.68551748A>T	ENSP00000229135:p.Phe104Tyr	Somatic	0	42	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	46	34.29	B5BU88|Q53ZV4	Missense_Mutation	SNP							pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.F104Y	ENST00000229135.3	37	c.311	CCDS8980.1	12	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592236	0.66219	.	.	ENSG00000111537	ENST00000229135	T	0.54279	0.58	5.38	4.16	0.48862	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.636531	0.17197	N	0.183271	T	0.70798	0.3265	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.69307	0.963	T	0.62310	-0.6881	9	.	.	.	-8.4815	8.1574	0.31178	0.8216:0.0:0.0:0.1784	.	104	P01579	IFNG_HUMAN	Y	104	ENSP00000229135:F104Y	.	F	-	2	0	IFNG	66838015	0.965000	0.33210	0.654000	0.29608	0.046000	0.14306	2.427000	0.44740	2.171000	0.68590	0.533000	0.62120	TTT	-	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma		0.353	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	protein_coding	OTTHUMT00000402301.1	A		-		68551748	-1	no_errors	ENST00000229135	ensembl	human	known	74_37	missense	SNP	0.086	T	T	68551748	A	T	68551748	3	4	3	1	0	0	0	0	1	0	0	0	7550	14	1	5	197	5	IFNG	12	68551748	Missense_Mutation	SNP	A	TCGA-3B-A9HL-01A-11D-A387-09	10430011	68551748	65300147	33	95											
LGR5	8549	genome.wustl.edu	37	chr12	71955560	71955560	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taattttttttctctttctaGaggatttcatagcaacaata	4	6	3	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:71955560G>C	ENST00000266674.5	+	8	1096		c.e8-1		LGR5_ENST00000536515.1_Splice_Site|LGR5_ENST00000540815.2_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5						G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTCTTTCTAGAGGATTTCAT	0.368																																																	0								ENSG00000139292						52	47	49					12																	71955560		2203	4300	6503	LGR5	SO:0001630	splice_region_variant	0			-	HGNC	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.786-1G>C	12.37:g.71955560G>C		Somatic	0	33	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	384	117	76.49	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Splice_Site	SNP							-	e8-1	ENST00000266674.5	37	c.786-1	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874737	0.91664	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR5	70241827	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.623000	0.98386	2.937000	0.99478	0.650000	0.86243	.	-	-		0.368	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	protein_coding	OTTHUMT00000404744.1	G	NM_003667	-	Intron	71955560	1	no_errors	ENST00000266674	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	71955560	G	C	71955560	5	2	3	1	0	0	0	0	0	0	1	0	8759	956	33	4	815	4	LGR5	12	71955560	Splice_Site	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	3403812	71955560	61896335	34	96											
NR2C1	7181	genome.wustl.edu	37	chr12	95434360	95434360	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaggtactcaggcataggaGaaggcatggtgagctagtat	14	6	2	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr12:95434360G>C	ENST00000333003.5	-	10	1475	c.1145C>G	c.(1144-1146)tCt>tGt	p.S382C	NR2C1_ENST00000330677.7_Missense_Mutation_p.S382C|NR2C1_ENST00000393101.3_Missense_Mutation_p.S382C|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	382					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S382F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGGCATAGGAGAAGGCATGGT	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000120798						131	113	119					12																	95434360		2203	4300	6503	NR2C1	SO:0001583	missense	0			-	HGNC	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1145C>G	12.37:g.95434360G>C	ENSP00000333275:p.Ser382Cys	Somatic	0	59	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	112	32.93	A8K5K4|Q15625|Q15626	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S382C	ENST00000333003.5	37	c.1145	CCDS9051.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086795|3.086795	0.55861|0.55861	.|.	.|.	ENSG00000120798|ENSG00000120798	ENST00000551647|ENST00000333003;ENST00000393101;ENST00000330677	.|D;D;D	.|0.96967	.|-4.19;-4.19;-4.19	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	.|0.171825	.|0.53938	.|D	.|0.000049	D|D	0.98160|0.98160	0.9392|0.9392	M|M	0.79475|0.79475	2.455|2.455	0.47511|0.47511	D|D	0.999441|0.999441	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;P;D;D	.|0.79784	.|0.993;0.89;0.926;0.933	D|D	0.98214|0.98214	1.0474|1.0474	5|10	.|0.66056	.|D	.|0.02	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;382;382;382	.|B6ZGT7;P13056-3;P13056-2;P13056	.|.;.;.;NR2C1_HUMAN	L|C	5|382	.|ENSP00000333275:S382C;ENSP00000376813:S382C;ENSP00000328843:S382C	.|ENSP00000328843:S382C	F|S	-|-	3|2	2|0	NR2C1|NR2C1	93958491|93958491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.782000|4.782000	0.62396|0.62396	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	TTC|TCT	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.398	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	protein_coding	OTTHUMT00000407565.2	G	NM_003297	-		95434360	-1	no_errors	ENST00000333003	ensembl	human	known	74_37	missense	SNP	1.000	C	C	95434360	G	C	95434360	3	2	3	1	0	0	0	0	1	0	0	0	10624	942	33	4	764	4	NR2C1	12	95434360	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	23478800	95434360	38417535	35	97											
MYO16	23026	genome.wustl.edu	37	chr13	109438081	109438081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatcctgttgacctatctGgatgaaaatggtaggcaaaa	9	7	2	2			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr13:109438081G>A	ENST00000357550.2	+	4	581	c.540G>A	c.(538-540)ctG>ctA	p.L180L	MYO16_ENST00000356711.2_Silent_p.L180L|MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000251041.5_Silent_p.L180L	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)			TGACCTATCTGGATGAAAATG	0.378																																																	0								ENSG00000041515						76	71	73					13																	109438081		2203	4300	6503	MYO16	SO:0001819	synonymous_variant	0			-	HGNC		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.540G>A	13.37:g.109438081G>A		Somatic	0	13	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68		Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L180	ENST00000357550.2	37	c.540	CCDS32008.1	13																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.378	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011	-		109438081	1	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	SNP	1.000	A	A	109438081	G	A	109438081	2	1	3	1	0	0	0	0	0	0	0	1	10066	1335	47	2		2	MYO16	13	109438081	Silent	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		109438081	5731797	36	98											
OR11H12	440153	genome.wustl.edu	37	chr14	19378189	19378189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtgtgtgacccagggccacGatttgcattggattgtgttt	13	7	0	1	rs2212201		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr14:19378189G>T	ENST00000550708.1	+	1	668	c.596G>T	c.(595-597)cGa>cTa	p.R199L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	199						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)		CCAGGGCCACGATTTGCATTG	0.433																																																	0								ENSG00000257115						4	4	4					14																	19378189		1326	2875	4201	OR11H12	SO:0001583	missense	0			-	HGNC		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.596G>T	14.37:g.19378189G>T	ENSP00000449002:p.Arg199Leu	Somatic	0	17	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R199L	ENST00000550708.1	37	c.596	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	g	0	-2.644232	0.00111	.	.	ENSG00000257115	ENST00000550708	T	0.00021	9.03	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.245959	0.20320	N	0.094649	T	0.00012	0.0000	N	0.00000	-4.185	0.22142	N	0.999331	B	0.02656	0.0	B	0.01281	0.0	T	0.54977	-0.8212	9	0.02654	T	1	.	4.8306	0.13437	0.0:0.0:0.3122:0.6878	.	199	B2RN74	O11HC_HUMAN	L	199	ENSP00000449002:R199L	ENSP00000449002:R199L	R	+	2	0	CR383656.1	18448189	0.000000	0.05858	0.203000	0.23512	0.050000	0.14768	0.578000	0.23773	-1.737000	0.01350	-2.446000	0.00210	CGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	protein_coding	OTTHUMT00000408402.1	G	NM_001013354	rs201806505		19378189	1	no_errors	ENST00000550708	ensembl	human	known	74_37	missense	SNP	0.000	T	T	19378189	G	T	19378189	3	4	3	1	0	0	0	0	1	0	0	0	10929	1058	37	3	598	3	OR11H12	14	19378189	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		19378189	87971351	37	99											
C14orf37	145407	genome.wustl.edu	37	chr14	58604835	58604835	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtctcccgtactttggagCaagttcacaatggaaacttt	8	9	2	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr14:58604835C>G	ENST00000267485.7	-	2	1436	c.1242G>C	c.(1240-1242)ttG>ttC	p.L414F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	414						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TACTTTGGAGCAAGTTCACAA	0.443																																																	0								ENSG00000139971						90	87	88					14																	58604835		2203	4300	6503	C14orf37	SO:0001583	missense	0			-	HGNC		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1242G>C	14.37:g.58604835C>G	ENSP00000267485:p.Leu414Phe	Somatic	0	44	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP							NULL	p.L414F	ENST00000267485.7	37	c.1242	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454245	0.63290	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.21734	1.99	5.75	2.39	0.29439	.	1.012730	0.07919	N	0.975556	T	0.39384	0.1076	M	0.64997	1.995	0.09310	N	1	D;D;D;D	0.63046	0.977;0.992;0.977;0.977	P;P;P;P	0.62813	0.803;0.907;0.803;0.803	T	0.13791	-1.0496	10	0.59425	D	0.04	0.3821	8.0285	0.30451	0.0:0.579:0.327:0.094	.	452;414;414;414	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	F	414;452	ENSP00000267485:L414F	ENSP00000267485:L414F	L	-	3	2	C14orf37	57674588	0.000000	0.05858	0.016000	0.15963	0.430000	0.31655	-0.539000	0.06113	0.722000	0.32252	0.655000	0.94253	TTG	-	NULL		0.443	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	protein_coding	OTTHUMT00000412059.1	C	NM_001001872	-		58604835	-1	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	SNP	0.002	G	G	58604835	C	G	58604835	3	3	3	1	0	0	0	0	1	0	0	0	1773	709	25	4	1110	4	C14orf37	14	58604835	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	39226646	58604835	48744705	38	100											
TTLL5	23093	genome.wustl.edu	37	chr14	76330059	76330059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagaagtagaaaacaacGtgtacagccaggctacaggg	13	7	0	2	rs542956518		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr14:76330059G>A	ENST00000298832.9	+	29	3581	c.3376G>A	c.(3376-3378)Gtg>Atg	p.V1126M	TTLL5_ENST00000557636.1_Missense_Mutation_p.V1141M|TTLL5_ENST00000556893.1_Missense_Mutation_p.V677M|TTLL5_ENST00000554510.1_Missense_Mutation_p.V635M	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1126					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)			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)		AGAAAACAACGTGTACAGCCA	0.502																																																	0								ENSG00000119685						104	101	102					14																	76330059		2203	4300	6503	TTLL5	SO:0001583	missense	0			-	HGNC	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.3376G>A	14.37:g.76330059G>A	ENSP00000298832:p.Val1126Met	Somatic	0	33	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	38.46	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.V1126M	ENST00000298832.9	37	c.3376	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993627	0.35131	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.25085	3.92;4.0;1.82;1.83	5.78	3.97	0.46021	.	0.633514	0.16692	N	0.203500	T	0.18467	0.0443	N	0.14661	0.345	0.21933	N	0.999466	P;P;P;P	0.52170	0.951;0.945;0.951;0.71	P;B;P;B	0.47251	0.542;0.36;0.542;0.181	T	0.05022	-1.0911	10	0.66056	D	0.02	.	7.3064	0.26451	0.1404:0.0:0.7241:0.1355	.	1141;200;677;1126	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	M	200;1141;1126;677;677;635	ENSP00000450713:V1141M;ENSP00000298832:V1126M;ENSP00000452524:V677M;ENSP00000451946:V635M	ENSP00000286653:V200M	V	+	1	0	TTLL5	75399812	0.961000	0.32948	0.983000	0.44433	0.398000	0.30690	3.112000	0.50368	0.924000	0.37069	-0.119000	0.15052	GTG	-	NULL		0.502	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	protein_coding	OTTHUMT00000414453.1	G	NM_015072	-		76330059	1	no_errors	ENST00000298832	ensembl	human	known	74_37	missense	SNP	0.839	A	A	76330059	G	A	76330059	3	1	3	1	0	0	0	0	1	0	0	0	16737	1145	40	1	3486	1	TTLL5	14	76330059	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	17725224	76330059	31019481	39	101											
MYO5C	55930	genome.wustl.edu	37	chr15	52497276	52497276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtctatgctagaggagcGcttccggaagcctgtgggct	15	10	1	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr15:52497276G>A	ENST00000261839.7	-	38	4767	c.4606C>T	c.(4606-4608)Cgc>Tgc	p.R1536C	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1536	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTAGAGGAGCGCTTCCGGAAG	0.602																																																	0								ENSG00000128833						68	75	73					15																	52497276		2004	4147	6151	MYO5C	SO:0001583	missense	0			-	HGNC	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4606C>T	15.37:g.52497276G>A	ENSP00000261839:p.Arg1536Cys	Somatic	0	17	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	Q6P1W8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1536C	ENST00000261839.7	37	c.4606	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943843	0.92593	.	.	ENSG00000128833	ENST00000261839	D	0.90504	-2.68	4.66	4.66	0.58398	Dilute (1);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96041	0.9024	10	0.87932	D	0	.	18.0881	0.89464	0.0:0.0:1.0:0.0	.	1536	Q9NQX4	MYO5C_HUMAN	C	1536	ENSP00000261839:R1536C	ENSP00000261839:R1536C	R	-	1	0	MYO5C	50284568	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.601000	0.98297	2.583000	0.87209	0.462000	0.41574	CGC	-	pfscan_Dilute		0.602	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	protein_coding	OTTHUMT00000419562.1	G	NM_018728	-		52497276	-1	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52497276	G	A	52497276	3	1	3	1	0	0	0	0	1	0	0	0	10082	1087	38	1	638	1	MYO5C	15	52497276	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		52497276	50034116	40	102											
CILP	8483	genome.wustl.edu	37	chr15	65499236	65499236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaccacctggccagtgctgCccgcaggtgtccagtcagtg	14	14	1	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr15:65499236C>A	ENST00000261883.4	-	4	474	c.308G>T	c.(307-309)gGc>gTc	p.G103V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	103					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCAGTGCTGCCCGCAGGTGT	0.622																																																	0								ENSG00000138615						36	34	35					15																	65499236		2201	4299	6500	CILP	SO:0001583	missense	0			-	HGNC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.308G>T	15.37:g.65499236C>A	ENSP00000261883:p.Gly103Val	Somatic	0	20	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.G103V	ENST00000261883.4	37	c.308	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703091	0.48412	.	.	ENSG00000138615	ENST00000261883	T	0.16743	2.32	5.58	1.19	0.21007	.	0.334287	0.35903	N	0.002905	T	0.13030	0.0316	L	0.39898	1.24	0.20307	N	0.999916	P	0.42871	0.792	P	0.44860	0.462	T	0.13229	-1.0517	10	0.18710	T	0.47	0.2513	5.1895	0.15203	0.1295:0.5084:0.2805:0.0817	.	103	O75339	CILP1_HUMAN	V	103	ENSP00000261883:G103V	ENSP00000261883:G103V	G	-	2	0	CILP	63286289	0.010000	0.17322	0.719000	0.30619	0.721000	0.41392	1.543000	0.36147	0.663000	0.31027	0.561000	0.74099	GGC	-	NULL		0.622	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	protein_coding	OTTHUMT00000256829.1	C	NM_003613	-		65499236	-1	no_errors	ENST00000261883	ensembl	human	known	74_37	missense	SNP	0.001	A	A	65499236	C	A	65499236	3	1	3	1	0	0	0	0	1	0	0	0	3431	739	26	3	3270	3	CILP	15	65499236	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	13001960	65499236	37032156	41	103											
CREBBP	1387	genome.wustl.edu	37	chr16	3779184	3779184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccgagccgcttccaccGctgcaggagggggctgggcc	16	15	1	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr16:3779184G>A	ENST00000262367.5	-	31	6673	c.5864C>T	c.(5863-5865)gCg>gTg	p.A1955V	CREBBP_ENST00000382070.3_Missense_Mutation_p.A1917V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1955					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCTTCCACCGCTGCAGGAGG	0.711			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0								ENSG00000005339						3	4	4					16																	3779184		1794	3661	5455	CREBBP	SO:0001583	missense	0			-	HGNC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5864C>T	16.37:g.3779184G>A	ENSP00000262367:p.Ala1955Val	Somatic	0	29	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A1955V	ENST00000262367.5	37	c.5864	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	11.53	1.666462	0.29604	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.84516	-1.86;-1.79	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000009	D	0.84392	0.5462	L	0.49126	1.545	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.46940	0.532;0.532	T	0.82202	-0.0574	10	0.21540	T	0.41	-12.7463	18.6472	0.91415	0.0:0.0:1.0:0.0	.	1985;1955	Q4LE28;Q92793	.;CBP_HUMAN	V	1955;1985;1917;490	ENSP00000262367:A1955V;ENSP00000371502:A1917V	ENSP00000262367:A1955V	A	-	2	0	CREBBP	3719185	1.000000	0.71417	0.104000	0.21259	0.611000	0.37282	7.258000	0.78371	2.419000	0.82065	0.655000	0.94253	GCG	-	NULL		0.711	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	G	NM_004380	-		3779184	-1	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	SNP	0.998	A	A	3779184	G	A	3779184	3	1	3	1	0	0	0	0	1	0	0	0	3863	1087	38	1	1468	1	CREBBP	16	3779184	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		3779184	86575569	42	104											
EARS2	124454	genome.wustl.edu	37	chr16	23540873	23540873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctccgagatggcgtccagCtgtgctcgacctactgcagg	12	13	1	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr16:23540873C>A	ENST00000563459.1	-	7	1308	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.Q434H|EARS2_ENST00000449606.1_Missense_Mutation_p.Q434H|EARS2_ENST00000563232.1_Missense_Mutation_p.Q434H			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	434					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TGGCGTCCAGCTGTGCTCGAC	0.597																																																	0								ENSG00000103356						48	50	49					16																	23540873		2093	4238	6331	EARS2	SO:0001583	missense	0			-	HGNC	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1302G>T	16.37:g.23540873C>A	ENSP00000456467:p.Gln434His	Somatic	0	29	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP							pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito	p.Q434H	ENST00000563459.1	37	c.1302	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144631	0.21288	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.44881	0.91	5.61	2.55	0.30701	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);	0.053464	0.85682	D	0.000000	T	0.40094	0.1103	M	0.72894	2.215	0.45490	D	0.998456	B;B	0.24533	0.105;0.004	B;B	0.22880	0.042;0.009	T	0.19516	-1.0303	10	0.37606	T	0.19	-3.1148	10.298	0.43635	0.0:0.7834:0.0:0.2166	.	434;434	Q86YH3;Q5JPH6	.;SYEM_HUMAN	H	434	ENSP00000395196:Q434H	ENSP00000343488:Q434H	Q	-	3	2	EARS2	23448374	0.996000	0.38824	0.357000	0.25798	0.017000	0.09413	0.401000	0.20948	0.303000	0.22785	0.563000	0.77884	CAG	-	superfamily_aa-tRNA-synth_I_codon-bd,tigrfam_Glu-tRNA-ligase_bac/mito		0.597	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	protein_coding	OTTHUMT00000434844.1	C	NM_133451	-		23540873	-1	no_errors	ENST00000449606	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23540873	C	A	23540873	3	1	3	1	0	0	0	0	1	0	0	0	4880	796	28	3	281	3	EARS2	16	23540873	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	19761689	23540873	66813880	43	105											
DYNC1LI2	1783	genome.wustl.edu	37	chr16	66785214	66785214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccggacggcagcttggacCtggcgcgggtggacacttcg	17	12	0	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr16:66785214C>A	ENST00000258198.2	-	2	349	c.143G>T	c.(142-144)aGg>aTg	p.R48M	DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.R48M|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.R48M|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.R48M	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	48					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CAGCTTGGACCTGGCGCGGGT	0.726																																																	0								ENSG00000135720						37	39	38					16																	66785214		2200	4300	6500	DYNC1LI2	SO:0001583	missense	0			-	HGNC	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.143G>T	16.37:g.66785214C>A	ENSP00000258198:p.Arg48Met	Somatic	0	107	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	100	18.70	A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP							pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.R48M	ENST00000258198.2	37	c.143	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.411794	0.96072	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	T;T;T;T	0.30981	2.13;2.13;1.51;2.13	4.82	4.82	0.62117	.	0.088348	0.85682	D	0.000000	T	0.53690	0.1812	M	0.70275	2.135	0.50813	D	0.999896	D;B;P;D	0.61080	0.989;0.372;0.642;0.961	D;B;P;P	0.63113	0.911;0.309;0.478;0.907	T	0.57900	-0.7731	10	0.66056	D	0.02	-7.1182	17.7036	0.88302	0.0:1.0:0.0:0.0	.	48;48;48;48	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	M	48	ENSP00000258198:R48M;ENSP00000368795:R48M;ENSP00000394289:R48M;ENSP00000408566:R48M	ENSP00000258198:R48M	R	-	2	0	DYNC1LI2	65342715	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.432000	0.80349	2.505000	0.84491	0.557000	0.71058	AGG	-	pfam_Dynein_light_int_chain		0.726	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	protein_coding	OTTHUMT00000268846.1	C	NM_006141	-		66785214	-1	no_errors	ENST00000258198	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66785214	C	A	66785214	3	1	3	1	0	0	0	0	1	0	0	0	4847	681	24	3	1383	3	DYNC1LI2	16	66785214	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	43244341	66785214	23569539	44	106											
CBFA2T3	863	genome.wustl.edu	37	chr16	88952543	88952543	+	Frame_Shift_Del	DEL	A	A	-													gctcccgctgcagcaagggcAggtttgcctgtggggtgggg							TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr16:88952543delA	ENST00000268679.4	-	6	1115	c.719delT	c.(718-720)ctgfs	p.L240fs	CBFA2T3_ENST00000448839.1_Frame_Shift_Del_p.L164fs|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000436887.2_Frame_Shift_Del_p.L215fs|CBFA2T3_ENST00000360302.2_Frame_Shift_Del_p.L154fs|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000327483.5_Frame_Shift_Del_p.L154fs	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	240	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CAGCAAGGGCAGGTTTGCCTG	0.687			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0								ENSG00000129993						30	30	30					16																	88952543		2181	4283	6464	CBFA2T3	SO:0001589	frameshift_variant	0				HGNC	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.719delT	16.37:g.88952543delA	ENSP00000268679:p.Leu240fs	Somatic	0	86	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Frame_Shift_Del	DEL							pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.L240fs	ENST00000268679.4	37	c.719	CCDS10972.1	16																																																																																			-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1		0.687	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	protein_coding	OTTHUMT00000269545.2	A	NM_005187			88952543	-1	no_errors	ENST00000268679	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88952543	A	-	88952543	7	5	3	1	0	1	0	1	0	0	0	0	2700	188	7	0	1270	0	CBFA2T3	16	88952543	Frame_Shift_Del	DEL	A	TCGA-3B-A9HL-01A-11D-A387-09	22167329	88952543	1402210	45	107											
MYH4	4622	genome.wustl.edu	37	chr17	10367818	10367818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggcaggttcctcttTtttcttctctccagtaactg	8	12	3	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr17:10367818T>C	ENST00000255381.2	-	7	729	c.619A>G	c.(619-621)Aaa>Gaa	p.K207E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	207	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						GGTTCCTCTTTTTTCTTCTCT	0.423																																																	0								ENSG00000264424						79	77	78					17																	10367818		2203	4300	6503	MYH4	SO:0001583	missense	0			-	HGNC		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.619A>G	17.37:g.10367818T>C	ENSP00000255381:p.Lys207Glu	Somatic	0	28	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49		Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K207E	ENST00000255381.2	37	c.619	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546147	0.65198	.	.	ENSG00000141048	ENST00000255381	T	0.71579	-0.58	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.39020	U	0.001492	T	0.58438	0.2122	N	0.25060	0.705	0.48452	D	0.999654	B	0.02656	0.0	B	0.14578	0.011	T	0.54529	-0.8280	10	0.37606	T	0.19	.	15.1975	0.73104	0.0:0.0:0.0:1.0	.	207	Q9Y623	MYH4_HUMAN	E	207	ENSP00000255381:K207E	ENSP00000255381:K207E	K	-	1	0	MYH4	10308543	1.000000	0.71417	0.922000	0.36590	0.711000	0.40976	3.490000	0.53245	2.043000	0.60533	0.528000	0.53228	AAA	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	T	NM_017533	-		10367818	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10367818	T	C	10367818	3	2	3	1	0	0	0	0	1	0	0	0	10039	1850	64	5	5336	5	MYH4	17	10367818	Missense_Mutation	SNP	T	TCGA-3B-A9HL-01A-11D-A387-09		10367818	70827392	46	108											
FKBP10	60681	genome.wustl.edu	37	chr17	39973444	39973444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccacctgggctatgggaGcatcggcctgggtgagaagg	16	11	0	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr17:39973444G>T	ENST00000321562.4	+	2	484	c.380G>T	c.(379-381)aGc>aTc	p.S127I	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	127	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCTATGGGAGCATCGGCCTG	0.642																																																	0								ENSG00000141756						66	65	66					17																	39973444		2203	4300	6503	FKBP10	SO:0001583	missense	0			-	HGNC	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.380G>T	17.37:g.39973444G>T	ENSP00000317232:p.Ser127Ile	Somatic	0	16	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	8	46.67	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.S127I	ENST00000321562.4	37	c.380	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072909	0.76415	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.86366	-2.11;-2.11	5.35	5.35	0.76521	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	M	0.64404	1.975	0.80722	D	1	P	0.49090	0.919	P	0.55749	0.783	D	0.91118	0.4927	10	0.72032	D	0.01	-10.7618	14.3574	0.66748	0.0732:0.0:0.9268:0.0	.	127	Q96AY3	FKB10_HUMAN	I	127;67;127;127	ENSP00000408232:S67I;ENSP00000317232:S127I	ENSP00000269598:S127I	S	+	2	0	FKBP10	37226970	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.550000	0.67268	2.526000	0.85167	0.561000	0.74099	AGC	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.642	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	protein_coding	OTTHUMT00000257410.2	G	NM_021939	-		39973444	1	no_errors	ENST00000321562	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39973444	G	T	39973444	3	4	3	1	0	0	0	0	1	0	0	0	5904	971	34	3	386	3	FKBP10	17	39973444	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	29605626	39973444	41221766	47	109											
HSD17B1	3292	genome.wustl.edu	37	chr17	40705302	40705302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactgagggccgcgtggaCgtgctgggtgagcctcctgg	19	10	0	3			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr17:40705302C>T	ENST00000585807.1	+	2	3978	c.258C>T	c.(256-258)gaC>gaT	p.D86D	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.D86D	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	86					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)	GCCGCGTGGACGTGCTGGGTG	0.642																																																	0								ENSG00000108786						28	32	31					17																	40705302		2203	4299	6502	HSD17B1	SO:0001819	synonymous_variant	0			-	HGNC		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.258C>T	17.37:g.40705302C>T		Somatic	1	112	0.88		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	51	43.96	B3KXS1|Q2M2L8	Silent	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.D86	ENST00000585807.1	37	c.258	CCDS11428.1	17																																																																																			-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR		0.642	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	protein_coding	OTTHUMT00000450392.1	C	NM_000413	-		40705302	1	no_errors	ENST00000585807	ensembl	human	known	74_37	silent	SNP	0.997	T	T	40705302	C	T	40705302	2	4	3	1	0	0	0	0	0	0	0	1	7380	535	19	1		1	HSD17B1	17	40705302	Silent	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09	731858	40705302	40489908	48	110											
UBTF	7343	genome.wustl.edu	37	chr17	42290278	42290278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatgtccgatttcttgGcattctggattaggtcgggg	15	7	2	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr17:42290278G>A	ENST00000302904.4	-	7	1061	c.569C>T	c.(568-570)gCc>gTc	p.A190V	UBTF_ENST00000533177.1_Missense_Mutation_p.A190V|UBTF_ENST00000393606.3_Missense_Mutation_p.A190V|UBTF_ENST00000537550.1_5'Flank|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.A190V|UBTF_ENST00000529383.1_Missense_Mutation_p.A190V|UBTF_ENST00000343638.5_Missense_Mutation_p.A190V|UBTF_ENST00000527034.1_Missense_Mutation_p.A190V|UBTF_ENST00000436088.1_Missense_Mutation_p.A190V			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	190					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGATTTCTTGGCATTCTGGAT	0.587																																																	0								ENSG00000108312						161	155	157					17																	42290278		2203	4300	6503	UBTF	SO:0001583	missense	0			-	HGNC	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.569C>T	17.37:g.42290278G>A	ENSP00000302640:p.Ala190Val	Somatic	0	59	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	A8K6R8	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A190V	ENST00000302904.4	37	c.569	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	g	15.09	2.730484	0.48939	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D;D	0.98329	-4.84;-4.11;-4.87;-4.84;-4.11;-4.84;-4.84;-4.11	5.0	5.0	0.66597	High mobility group, HMG1/HMG2 (1);	0.265763	0.38720	N	0.001587	D	0.93933	0.8058	N	0.03608	-0.345	0.31864	N	0.62057	P;P;B	0.41643	0.629;0.758;0.021	B;B;B	0.41646	0.199;0.362;0.015	D	0.93192	0.6584	10	0.30854	T	0.27	-23.7501	17.5755	0.87947	0.0:0.0:1.0:0.0	.	190;190;190	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	V	190	ENSP00000345297:A190V;ENSP00000302640:A190V;ENSP00000431539:A190V;ENSP00000437180:A190V;ENSP00000390669:A190V;ENSP00000377231:A190V;ENSP00000432925:A190V;ENSP00000435708:A190V	ENSP00000302640:A190V	A	-	2	0	UBTF	39645804	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.618000	0.67722	2.757000	0.94681	0.655000	0.94253	GCC	-	superfamily_ARM-type_fold		0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	protein_coding	OTTHUMT00000395205.1	G	NM_014233	-		42290278	-1	no_errors	ENST00000302904	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42290278	G	A	42290278	3	1	3	1	0	0	0	0	1	0	0	0	16916	1203	42	2	1785	2	UBTF	17	42290278	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09	1584976	42290278	38904932	49	111											
FHOD3	80206	genome.wustl.edu	37	chr18	34297864	34297864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacatcctcaccaacaaacGgttcatgcttgacatgctgt	7	13	2	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr18:34297864G>T	ENST00000359247.4	+	15	2027	c.2027G>T	c.(2026-2028)cGg>cTg	p.R676L	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.R693L|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868L|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000445677.1_Missense_Mutation_p.R655L	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	676					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCAACAAACGGTTCATGCTT	0.542																																																	0								ENSG00000134775						124	105	112					18																	34297864		2203	4300	6503	FHOD3	SO:0001583	missense	0			-	HGNC	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2027G>T	18.37:g.34297864G>T	ENSP00000352186:p.Arg676Leu	Somatic	0	26	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	49	43.68	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP							pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.R693L	ENST00000359247.4	37	c.2078		18	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247908	0.59103	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.32753	1.44;1.46;1.44	5.24	5.24	0.73138	.	0.249780	0.40469	N	0.001093	T	0.47764	0.1463	L	0.48642	1.525	0.49915	D	0.999831	B;D;B	0.67145	0.011;0.996;0.03	B;D;B	0.72338	0.011;0.977;0.02	T	0.28267	-1.0049	10	0.36615	T	0.2	.	15.5657	0.76290	0.0:0.0:1.0:0.0	.	655;676;693	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	L	693;676;655	ENSP00000257209:R693L;ENSP00000352186:R676L;ENSP00000411430:R655L	ENSP00000257209:R693L	R	+	2	0	FHOD3	32551862	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	6.394000	0.73223	2.458000	0.83093	0.455000	0.32223	CGG	-	NULL		0.542	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	protein_coding	OTTHUMT00000460884.1	G	XM_371114	-		34297864	1	no_errors	ENST00000257209	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34297864	G	T	34297864	3	4	3	1	0	0	0	0	1	0	0	0	5885	1116	39	3	2140	3	FHOD3	18	34297864	Missense_Mutation	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		34297864	43779384	50	112											
CADM4	199731	genome.wustl.edu	37	chr19	44130154	44130154	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatccgggccgtgggggagtCtgttaggcaaaagtaagagg	17	6	1	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr19:44130154C>G	ENST00000222374.2	-	6	713		c.e6-1		CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTGGGGGAGTCTGTTAGGCAA	0.617																																																	0								ENSG00000105767						51	50	50					19																	44130154		2203	4300	6503	CADM4	SO:0001630	splice_region_variant	0			-	HGNC	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.665-1G>C	19.37:g.44130154C>G		Somatic	0	43	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	B2R7L5|Q9Y4A4	Splice_Site	SNP							-	e6-1	ENST00000222374.2	37	c.665-1	CCDS12627.1	19	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038872	0.55003	.	.	ENSG00000105767	ENST00000222374	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6608	0.85240	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADM4	48821994	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	5.014000	0.64029	2.538000	0.85594	0.491000	0.48974	.	-	-		0.617	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	protein_coding	OTTHUMT00000463352.1	C	NM_145296	-	Intron	44130154	-1	no_errors	ENST00000222374	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	44130154	C	G	44130154	5	3	3	1	0	0	0	0	0	0	1	0	2571	927	32	4	518	4	CADM4	19	44130154	Splice_Site	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09		44130154	14998829	51	113											
ZNF133	7692	genome.wustl.edu	37	chr20	18296821	18296821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtatgtttgtggggtGtgtgggcgaggctttagtct	17	5	1	0			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr20:18296821G>T	ENST00000316358.4	+	4	1423	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	ZNF133_ENST00000535822.1_Silent_p.V347V|ZNF133_ENST00000401790.1_Silent_p.V442V|ZNF133_ENST00000462170.1_3'UTR|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000377671.3_Silent_p.V441V|ZNF133_ENST00000538547.1_Silent_p.V347V|ZNF133_ENST00000396026.3_Silent_p.V445V|ZNF133_ENST00000402618.2_Silent_p.V379V	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	442					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						TTTGTGGGGTGTGTGGGCGAG	0.557																																																	0								ENSG00000125846						63	63	63					20																	18296821		2203	4300	6503	ZNF133	SO:0001819	synonymous_variant	0			-	HGNC	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.1326G>T	20.37:g.18296821G>T		Somatic	0	38	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V445	ENST00000316358.4	37	c.1335		20																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	protein_coding	OTTHUMT00000127616.1	G	NM_003434	-		18296821	1	no_errors	ENST00000396026	ensembl	human	known	74_37	silent	SNP	0.987	T	T	18296821	G	T	18296821	2	4	3	1	0	0	0	0	0	0	0	1	17730	1364	48	3		3	ZNF133	20	18296821	Silent	SNP	G	TCGA-3B-A9HL-01A-11D-A387-09		18296821	44728699	52	114											
PRIC285	85441	genome.wustl.edu	37	chr20	62196976	62196976	+	Frame_Shift_Del	DEL	C	C	-													ggcgtcgtcagcgttgagctCcccgtcccacggccagaagt							TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr20:62196976delC	ENST00000467148.1	-	8	3268	c.3199delG	c.(3199-3201)gagfs	p.E1067fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.E498fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1067					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCGTTGAGCTCCCCGTCCCAC	0.687																																																	0								ENSG00000130589						39	31	34					20																	62196976		2196	4298	6494	HELZ2	SO:0001589	frameshift_variant	0				HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3199delG	20.37:g.62196976delC	ENSP00000417401:p.Glu1067fs	Somatic	0	18	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	8	20.00	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL							superfamily_P-loop_NTPase	p.E1067fs	ENST00000467148.1	37	c.3199	CCDS33508.1	20																																																																																			-	NULL		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	C	NM_001037335			62196976	-1	no_errors	ENST00000467148	ensembl	human	known	74_37	frame_shift_del	DEL	0.991	-	-	62196976	C	-	62196976	7	5	3	1	0	1	0	1	0	0	0	0	12490	864	30	0	4798	0	PRIC285	20	62196976	Frame_Shift_Del	DEL	C	TCGA-3B-A9HL-01A-11D-A387-09	43900155	62196976	828544	53	115											
TMPRSS3	64699	genome.wustl.edu	37	chr21	43815480	43815480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcaaggccaaaaagcgatCggaatgagaagggggcttca	13	8	2	1	rs369418733		TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chr21:43815480C>T	ENST00000291532.3	-	2	1002	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	16					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAAAGCGATCGGAATGAGAA	0.517																																																	0								ENSG00000160183	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	117	102	107		47,47	4.5	1	21		107	0,8600		0,0,4300	no	missense,missense	TMPRSS3	NM_024022.2,NM_032405.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	16/455,16/345	43815480	1,13005	2203	4300	6503	TMPRSS3	SO:0001583	missense	0			-	HGNC	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.47G>A	21.37:g.43815480C>T	ENSP00000291532:p.Arg16Gln	Somatic	0	32	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R100Q	ENST00000291532.3	37	c.299	CCDS13686.1	21	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916630	0.73098	2.27E-4	0.0	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88354	-2.33;-2.33;-2.33;-2.37;-2.33	5.39	4.5	0.54988	.	0.132141	0.36628	N	0.002499	T	0.80276	0.4593	N	0.19112	0.55	0.28577	N	0.910325	D;P;P	0.57899	0.981;0.948;0.913	B;B;B	0.43916	0.436;0.237;0.12	T	0.74551	-0.3628	9	.	.	.	.	9.3585	0.38182	0.0:0.904:0.0:0.096	.	16;16;16	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Q	16;16;16;100;16	ENSP00000291532:R16Q;ENSP00000411013:R16Q;ENSP00000381442:R16Q;ENSP00000369762:R100Q;ENSP00000381434:R16Q	.	R	-	2	0	TMPRSS3	42688549	0.993000	0.37304	0.956000	0.39512	0.959000	0.62525	1.712000	0.37940	2.691000	0.91804	0.655000	0.94253	CGA	-	NULL		0.517	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	protein_coding	OTTHUMT00000195347.1	C		-		43815480	-1	no_errors	ENST00000380399	ensembl	human	known	74_37	missense	SNP	0.958	T	T	43815480	C	T	43815480	3	4	3	1	0	0	0	0	1	0	0	0	16255	884	31	1	1448	1	TMPRSS3	21	43815480	Missense_Mutation	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09		43815480	4314415	54	116											
ATRX	546	genome.wustl.edu	37	chrX	76890194	76890194	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcccacataaactgaacaCctaaaaataacagcttcatt	2	11	1	1			TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chrX:76890194C>T	ENST00000373344.5	-	17	4914	c.4700G>A	c.(4699-4701)gGt>gAt	p.G1567D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1529D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1567					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAACTGAACACCTAAAAATAA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						115	115	115					X																	76890194		2203	4296	6499	ATRX	SO:0001630	splice_region_variant	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4700-1G>A	X.37:g.76890194C>T		Somatic	0	15	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	14	70.83	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G1567D	ENST00000373344.5	37	c.4700	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866043	0.71949	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94457	-3.43;-3.43	5.77	5.77	0.91146	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	U	0.000000	D	0.98592	0.9529	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99694	1.1002	10	0.87932	D	0	.	18.913	0.92493	0.0:1.0:0.0:0.0	.	1529;1567	P46100-4;P46100	.;ATRX_HUMAN	D	1567;1529	ENSP00000362441:G1567D;ENSP00000378967:G1529D	ENSP00000362441:G1567D	G	-	2	0	ATRX	76776850	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	GGT	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-	Missense_Mutation	76890194	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76890194	C	T	76890194	5	4	3	1	0	0	0	0	0	0	1	0	1208	521	18	2	2854	2	ATRX	23	76890194	Splice_Site	SNP	C	TCGA-3B-A9HL-01A-11D-A387-09		76890194	78380366	55	117											
DKC1	1736	genome.wustl.edu	37	chrX	154005089	154005091	+	In_Frame_Del	DEL	AAG	AAG	-													tctaggacagtgataccaccAagaagaagaagaagaagaag							TCGA-3B-A9HL-01A-11D-A387-09	TCGA-3B-A9HL-10A-01D-A38A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df266d0-ca15-4a97-9700-785c81b14aba	ff026b1d-93bb-4334-9949-690d71a376ed	g.chrX:154005089_154005091delAAG	ENST00000369550.5	+	15	1702_1704	c.1492_1494delAAG	c.(1492-1494)aagdel	p.K505del	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	505	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATACCACCaagaagaagaaga	0.409									Congenital Dyskeratosis																																								0								ENSG00000130826																																			DKC1	SO:0001651	inframe_deletion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita		HGNC	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1492_1494delAAG	X.37:g.154005098_154005100delAAG	ENSP00000358563:p.Lys505del	Somatic	0	26	0		0.661764752209351				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Del	DEL							pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.K501in_frame_del	ENST00000369550.5	37	c.1492_1494	CCDS14761.1	X																																																																																			-	NULL		0.409	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	protein_coding	OTTHUMT00000061180.5	AAG	NM_001363			154005091	1	no_errors	ENST00000369550	ensembl	human	known	74_37	in_frame_del	DEL	0.284:0.284:0.273	-	-	154005091	AAG	-	154005089	7	5	3	1	0	1	0	1	0	0	0	0	4544	131	5	0	1550	0	DKC1	23	154005089	In_Frame_Del	DEL	AAG	TCGA-3B-A9HL-01A-11D-A387-09	77114895	154005089	1265471	56	118											
FCGR2A	2212	genome.wustl.edu	37	chr1	161476226	161476226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctcgcagccctgagaGcgactccattcagtggttcc	14	13	1	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr1:161476226G>A	ENST00000271450.6	+	3	247	c.209G>A	c.(208-210)aGc>aAc	p.S70N	FCGR2A_ENST00000367972.4_Missense_Mutation_p.S69N	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	70	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCCTGAGAGCGACTCCATT	0.587																																																	0								ENSG00000143226						99	93	95					1																	161476226		2203	4300	6503	FCGR2A	SO:0001583	missense	0			-	HGNC	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.209G>A	1.37:g.161476226G>A	ENSP00000271450:p.Ser70Asn	Somatic	0	62	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	216	27.91	Q8WUN1|Q8WW64	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S70N	ENST00000271450.6	37	c.209	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.099371	0.01843	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.09350	2.99;2.99	3.66	1.33	0.21861	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.664590	0.03105	N	0.161634	T	0.00875	0.0029	N	0.02225	-0.63	0.25568	N	0.986922	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.33292	-0.9874	9	0.02654	T	1	.	4.9737	0.14129	0.7212:0.0:0.2788:0.0	.	70;69	P12318;P12318-2	FCG2A_HUMAN;.	N	69;70	ENSP00000356949:S69N;ENSP00000271450:S70N	ENSP00000271450:S70N	S	+	2	0	FCGR2A	159742850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.352000	0.20113	0.148000	0.19059	-0.367000	0.07326	AGC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	protein_coding	OTTHUMT00000083318.3	G	NM_021642	-		161476226	1	no_errors	ENST00000271450	ensembl	human	known	74_37	missense	SNP	0.000	A	A	161476226	G	A	161476226	3	1	4	1	0	0	0	0	1	0	0	0	5783	971	34	2	219	2	FCGR2A	1	161476226	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		161476226	87774395	1	119											
FCGR2A	2212	genome.wustl.edu	37	chr1	161476328	161476328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcggggagtacacgtGccagactggccagaccagcc	14	13	0	3			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr1:161476328G>A	ENST00000271450.6	+	3	349	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.C103Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	104	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTACACGTGCCAGACTGGC	0.602																																																	0								ENSG00000143226						64	59	61					1																	161476328		2203	4297	6500	FCGR2A	SO:0001583	missense	0			-	HGNC	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.311G>A	1.37:g.161476328G>A	ENSP00000271450:p.Cys104Tyr	Somatic	0	55	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	194	28.41	Q8WUN1|Q8WW64	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.C104Y	ENST00000271450.6	37	c.311	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323563	0.81580	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.58940	0.3;0.3	3.66	3.66	0.41972	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.77184	0.4093	H	0.95114	3.625	0.46279	D	0.998965	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83375	0.0009	9	0.87932	D	0	.	11.05	0.47880	0.0:0.0:1.0:0.0	.	104;103	P12318;P12318-2	FCG2A_HUMAN;.	Y	103;104	ENSP00000356949:C103Y;ENSP00000271450:C104Y	ENSP00000271450:C104Y	C	+	2	0	FCGR2A	159742952	0.989000	0.36119	0.859000	0.33776	0.229000	0.25112	3.604000	0.54081	2.033000	0.60031	0.561000	0.74099	TGC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.602	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	protein_coding	OTTHUMT00000083318.3	G	NM_021642	-		161476328	1	no_errors	ENST00000271450	ensembl	human	known	74_37	missense	SNP	0.966	A	A	161476328	G	A	161476328	3	1	4	1	0	0	0	0	1	0	0	0	5783	1319	46	2	321	2	FCGR2A	1	161476328	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	102	161476328	87774293	2	120											
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135884187	135884188	+	Frame_Shift_Ins	INS	-	-	T													tcaagctccacattggtctgINSttagagttcgaaaagctgag							TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr2:135884187_135884188insT	ENST00000264158.8	+	11	977_978	c.934_935insT	c.(934-936)gttfs	p.V312fs	RAB3GAP1_ENST00000539493.1_Frame_Shift_Ins_p.V268fs|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Frame_Shift_Ins_p.V312fs	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	312					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACATTGGTCTGTTAGAGTTCGA	0.356																																																	0								ENSG00000115839																																			RAB3GAP1	SO:0001589	frameshift_variant	0				HGNC	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.936dupT	2.37:g.135884189_135884189dupT	ENSP00000264158:p.Val312fs	Somatic	0	69	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	79	26.17	A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Ins	INS							NULL	p.R313fs	ENST00000264158.8	37	c.934_935	CCDS33294.1	2																																																																																			-	NULL		0.356	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	protein_coding	OTTHUMT00000337514.2	-	NM_012233			135884188	1	no_errors	ENST00000264158	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	135884188	-	T	135884187	7	5	4	1	0	1	1	0	0	0	0	0	12943	1377	48	0	976	0	RAB3GAP1	2	135884187	Frame_Shift_Ins	INS	-	TCGA-3B-A9HO-01A-11D-A387-09		135884187	107315186	3	121											
COBLL1	22837	genome.wustl.edu	37	chr2	165551295	165551296	+	Frame_Shift_Ins	INS	-	-	A													atactctcttctgcatctgcINSaaaaaaaaagagctgggttt					rs374805044		TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr2:165551295_165551296insA	ENST00000392717.2	-	13	2838_2839	c.2834_2835insT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.L907fs|COBLL1_ENST00000375458.2_Frame_Shift_Ins_p.L869fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTGCATCTGCAAAAAAAAAGA	0.421																																																	0								ENSG00000082438																																			COBLL1	SO:0001589	frameshift_variant	0				HGNC	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2835dupT	2.37:g.165551304_165551304dupA	ENSP00000376478:p.Leu945fs	Somatic	0	24	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Ins	INS							pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.L974fs	ENST00000392717.2	37	c.2922_2921		2																																																																																			-	NULL		0.421	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	protein_coding		-	NM_014900			165551296	-1	no_errors	ENST00000194871	ensembl	human	known	74_37	frame_shift_ins	INS	0.958:0.972	A	A	165551296	-	A	165551295	7	5	4	1	0	1	1	0	0	0	0	0	3656	709	25	0	791	0	COBLL1	2	165551295	Frame_Shift_Ins	INS	-	TCGA-3B-A9HO-01A-11D-A387-09	29667108	165551295	77648078	4	122											
TTN	7273	genome.wustl.edu	37	chr2	179474099	179474099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagaggcaggacaaatGgttcttcttcttgaacttca	10	8	5	2	rs372927085		TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr2:179474099G>T	ENST00000591111.1	-	223	47239	c.47015C>A	c.(47014-47016)cCa>cAa	p.P15672Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14745Q|TTN_ENST00000589042.1_Missense_Mutation_p.P17313Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8248Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8440Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8373Q			Q8WZ42	TITIN_HUMAN	titin	15672	Ig-like 98.				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)			CAGGACAAATGGTTCTTCTTC	0.458																																																	0								ENSG00000155657						125	125	125					2																	179474099		1974	4155	6129	TTN	SO:0001583	missense	0			-	HGNC	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.47015C>A	2.37:g.179474099G>T	ENSP00000465570:p.Pro15672Gln	Somatic	0	20	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	60	15.49	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P14745Q	ENST00000591111.1	37	c.44234		2	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827792	0.32329	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63744	-0.06;0.18;0.15;0.14	5.72	4.84	0.62591	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	0.62356	0.2421	L	0.29908	0.895	0.44834	D	0.997845	P;P;P;P	0.46512	0.879;0.879;0.879;0.879	P;P;P;P	0.51742	0.557;0.557;0.557;0.678	T	0.66885	-0.5810	9	0.87932	D	0	.	14.584	0.68310	0.0701:0.0:0.9299:0.0	.	8248;8373;8440;15672	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14745;8248;8440;8373;8248	ENSP00000343764:P14745Q;ENSP00000434586:P8248Q;ENSP00000340554:P8440Q;ENSP00000352154:P8373Q	ENSP00000340554:P8440Q	P	-	2	0	TTN	179182344	1.000000	0.71417	0.155000	0.22561	0.976000	0.68499	5.347000	0.65998	1.396000	0.46663	0.563000	0.77884	CCA	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179474099	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179474099	G	T	179474099	3	4	4	1	0	0	0	0	1	0	0	0	16742	1348	47	3	56115	3	TTN	2	179474099	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	13922804	179474099	63725274	5	123											
CISH	1154	genome.wustl.edu	37	chr3	50645127	50645127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccagacggttgatgaCaaggcggcacaggtgttgca	15	10	0	3			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr3:50645127C>T	ENST00000348721.3	-	3	868	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	CISH_ENST00000443053.2_Missense_Mutation_p.V247I	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	230	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGGTTGATGACAAGGCGGCAC	0.632																																																	0								ENSG00000114737						87	88	88					3																	50645127		2203	4300	6503	CISH	SO:0001583	missense	0			-	HGNC	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"Suppressors of cytokine signaling", "SH2 domain containing"	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.688G>A	3.37:g.50645127C>T	ENSP00000294173:p.Val230Ile	Somatic	0	56	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07	B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP							pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.V247I	ENST00000348721.3	37	c.739	CCDS2831.1	3	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603181	0.46423	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.46063	0.88;0.88	5.58	3.49	0.39957	SOCS protein, C-terminal (4);	0.931962	0.09219	N	0.832212	T	0.33147	0.0853	L	0.34521	1.04	0.09310	N	0.999993	B;B	0.20550	0.046;0.033	B;B	0.26517	0.067;0.07	T	0.25222	-1.0138	10	0.36615	T	0.2	-1.2499	7.5863	0.27995	0.0:0.3335:0.5534:0.113	.	247;230	G5E9R1;Q9NSE2	.;CISH_HUMAN	I	247;230	ENSP00000409346:V247I;ENSP00000294173:V230I	ENSP00000294173:V230I	V	-	1	0	CISH	50620131	0.030000	0.19436	0.878000	0.34440	0.988000	0.76386	1.413000	0.34725	1.316000	0.45131	0.655000	0.94253	GTC	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.632	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISH	protein_coding	OTTHUMT00000346245.1	C	NM_145071	-		50645127	-1	no_errors	ENST00000443053	ensembl	human	known	74_37	missense	SNP	0.151	T	T	50645127	C	T	50645127	3	4	4	1	0	0	0	0	1	0	0	0	3439	478	17	2	92	2	CISH	3	50645127	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09		50645127	147377303	6	124			1	2		2	2	23	N	G_C	4.050731e-05
CISH	1154	genome.wustl.edu	37	chr3	50645149	50645149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggcacaggtgttgcagGctgcgggcactgcttctgcg	17	11	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr3:50645149G>T	ENST00000348721.3	-	3	846	c.666C>A	c.(664-666)agC>agA	p.S222R	CISH_ENST00000443053.2_Missense_Mutation_p.S239R	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	222	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGTGTTGCAGGCTGCGGGCAC	0.632																																																	0								ENSG00000114737						96	96	96					3																	50645149		2203	4300	6503	CISH	SO:0001583	missense	0			-	HGNC	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"Suppressors of cytokine signaling", "SH2 domain containing"	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.666C>A	3.37:g.50645149G>T	ENSP00000294173:p.Ser222Arg	Somatic	0	50	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP							pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.S239R	ENST00000348721.3	37	c.717	CCDS2831.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988093	0.74589	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.62498	0.02;0.02	5.73	3.93	0.45458	SOCS protein, C-terminal (4);	0.181590	0.64402	D	0.000019	T	0.79633	0.4479	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81777	-0.0777	10	0.87932	D	0	-4.0114	8.9602	0.35842	0.2252:0.0:0.7748:0.0	.	239;222	G5E9R1;Q9NSE2	.;CISH_HUMAN	R	239;222	ENSP00000409346:S239R;ENSP00000294173:S222R	ENSP00000294173:S222R	S	-	3	2	CISH	50620153	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.921000	0.28718	1.409000	0.46915	0.655000	0.94253	AGC	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.632	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISH	protein_coding	OTTHUMT00000346245.1	G	NM_145071	-		50645149	-1	no_errors	ENST00000443053	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50645149	G	T	50645149	3	4	4	1	0	0	0	0	1	0	0	0	3439	1194	42	3	114	3	CISH	3	50645149	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	22	50645149	147377281	7	125			1	2		2	2	23	N	G_C	4.050731e-05
SEMA5B	54437	genome.wustl.edu	37	chr3	122631054	122631054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacatagtgcctcctccGtgtgcagcccgagacagatg	12	13	0	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr3:122631054G>A	ENST00000357599.3	-	19	3247	c.2861C>T	c.(2860-2862)aCg>aTg	p.T954M	SEMA5B_ENST00000451055.2_Missense_Mutation_p.T1008M|SEMA5B_ENST00000195173.4_Missense_Mutation_p.T953M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	954	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCCTCCTCCGTGTGCAGCCC	0.652																																																	0								ENSG00000082684						59	49	53					3																	122631054		2203	4300	6503	SEMA5B	SO:0001583	missense	0			-	HGNC	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2861C>T	3.37:g.122631054G>A	ENSP00000350215:p.Thr954Met	Somatic	0	44	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.T1008M	ENST00000357599.3	37	c.3023	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196653	0.79015	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.55	4.55	0.56014	.	0.055650	0.64402	D	0.000001	T	0.66479	0.2793	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.64028	-0.6503	10	0.33940	T	0.23	.	16.4825	0.84161	0.0:0.0:1.0:0.0	.	860;954	D3YTI7;Q9P283	.;SEM5B_HUMAN	M	954;953;860;1008;954	ENSP00000350215:T954M;ENSP00000195173:T953M;ENSP00000389588:T1008M;ENSP00000377208:T954M	ENSP00000195173:T953M	T	-	2	0	SEMA5B	124113744	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.640000	0.98453	2.365000	0.80145	0.511000	0.50034	ACG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.652	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	protein_coding	OTTHUMT00000277165.1	G	NM_001031702	-		122631054	-1	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122631054	G	A	122631054	3	1	4	1	0	0	0	0	1	0	0	0	14046	1145	40	1	614	1	SEMA5B	3	122631054	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	71985905	122631054	75391376	8	126											
ANAPC4	29945	genome.wustl.edu	37	chr4	25384985	25384985	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctccagtttcctgtaTgcattggatggaagtgacag	14	7	0	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr4:25384985T>A	ENST00000315368.3	+	4	480	c.338T>A	c.(337-339)aTg>aAg	p.M113K	ANAPC4_ENST00000510092.1_Missense_Mutation_p.M113K	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	113					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTTTCCTGTATGCATTGGATG	0.363																																																	0								ENSG00000053900						104	102	102					4																	25384985		2203	4300	6503	ANAPC4	SO:0001583	missense	0			-	HGNC	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.338T>A	4.37:g.25384985T>A	ENSP00000318775:p.Met113Lys	Somatic	0	31	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP							superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.M113K	ENST00000315368.3	37	c.338	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463261	0.84425	.	.	ENSG00000053900	ENST00000315368;ENST00000510092;ENST00000505991	T;T;T	0.30981	1.51;1.51;1.51	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.56318	-0.7999	10	0.56958	D	0.05	-29.2284	15.9279	0.79635	0.0:0.0:0.0:1.0	.	113	Q9UJX5	APC4_HUMAN	K	113	ENSP00000318775:M113K;ENSP00000426654:M113K;ENSP00000421840:M113K	ENSP00000318775:M113K	M	+	2	0	ANAPC4	24994083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.563000	0.82314	2.165000	0.68154	0.482000	0.46254	ATG	-	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa		0.363	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	protein_coding	OTTHUMT00000214986.1	T	NM_013367	-		25384985	1	no_errors	ENST00000510092	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25384985	T	A	25384985	3	1	4	1	0	0	0	0	1	0	0	0	604	1464	51	5	348	5	ANAPC4	4	25384985	Missense_Mutation	SNP	T	TCGA-3B-A9HO-01A-11D-A387-09		25384985	165769291	9	127											
SEMA5A	9037	genome.wustl.edu	37	chr5	9202171	9202171	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccccaggacgggagcagttCaggcgagccttcatgaatgt	13	11	2	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr5:9202171C>A	ENST00000382496.5	-	9	1493	c.828G>T	c.(826-828)ctG>ctT	p.L276L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	276	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGAGCAGTTCAGGCGAGCCT	0.522																																																	0								ENSG00000112902						89	82	84					5																	9202171		2203	4300	6503	SEMA5A	SO:0001819	synonymous_variant	0			-	HGNC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.828G>T	5.37:g.9202171C>A		Somatic	0	17	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	77	18.75	D3DTC6|O60408|Q1RLL9	Silent	SNP							pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.L276	ENST00000382496.5	37	c.828	CCDS3875.1	5																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	protein_coding	OTTHUMT00000206989.2	C		-		9202171	-1	no_errors	ENST00000382496	ensembl	human	known	74_37	silent	SNP	0.821	A	A	9202171	C	A	9202171	2	1	4	1	0	0	0	0	0	0	0	1	14045	813	29	3		3	SEMA5A	5	9202171	Silent	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09		9202171	171713089	10	128											
FTMT	94033	genome.wustl.edu	37	chr5	121188023	121188023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaccagtcccgggaggAgaccgagcacgcggagaagc	14	14	1	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr5:121188023A>T	ENST00000321339.1	+	1	374	c.365A>T	c.(364-366)gAg>gTg	p.E122V		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	122	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCCCGGGAGGAGACCGAGCAC	0.577																																																	0								ENSG00000181867						60	58	59					5																	121188023		2203	4300	6503	FTMT	SO:0001583	missense	0			-	HGNC	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.365A>T	5.37:g.121188023A>T	ENSP00000313691:p.Glu122Val	Somatic	0	74	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	63	12.50		Missense_Mutation	SNP							pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.E122V	ENST00000321339.1	37	c.365	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129628	0.77549	.	.	ENSG00000181867	ENST00000321339	T	0.73152	-0.72	3.6	3.6	0.41247	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91069	0.4891	10	0.72032	D	0.01	.	10.8199	0.46599	1.0:0.0:0.0:0.0	.	122	Q8N4E7	FTMT_HUMAN	V	122	ENSP00000313691:E122V	ENSP00000313691:E122V	E	+	2	0	FTMT	121215922	1.000000	0.71417	0.786000	0.31890	0.958000	0.62258	8.508000	0.90525	1.868000	0.54150	0.533000	0.62120	GAG	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron		0.577	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	protein_coding	OTTHUMT00000250884.1	A	NM_177478	-		121188023	1	no_errors	ENST00000321339	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121188023	A	T	121188023	3	4	4	1	0	0	0	0	1	0	0	0	6087	304	11	5	367	5	FTMT	5	121188023	Missense_Mutation	SNP	A	TCGA-3B-A9HO-01A-11D-A387-09	111985852	121188023	59727237	11	129											
PCDHA6	56142	genome.wustl.edu	37	chr5	140209016	140209016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctgtggaggtggccgAcatgaatgacaatgctccgg	14	9	1	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr5:140209016A>C	ENST00000529310.1	+	1	1454	c.1340A>C	c.(1339-1341)gAc>gCc	p.D447A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D447A	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	447	Cadherin 4. {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)			GAGGTGGCCGACATGAATGAC	0.647																																																	0								ENSG00000081842						63	69	67					5																	140209016		2203	4300	6503	PCDHA6	SO:0001583	missense	0			-	HGNC	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.1340A>C	5.37:g.140209016A>C	ENSP00000433378:p.Asp447Ala	Somatic	0	204	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	133	21.30	O75283|Q9NRT8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D447A	ENST00000529310.1	37	c.1340	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	A	11.75	1.733169	0.30684	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.74526	-0.85;-0.85	3.55	3.55	0.40652	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38436	U	0.001690	D	0.92169	0.7517	H	0.99811	4.8	0.36340	D	0.859445	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96032	0.9017	10	0.87932	D	0	.	12.5335	0.56128	1.0:0.0:0.0:0.0	.	447;447;447	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	A	447	ENSP00000433378:D447A;ENSP00000434113:D447A	ENSP00000434113:D447A	D	+	2	0	PCDHA6	140189200	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	5.929000	0.70096	1.607000	0.50170	0.260000	0.18958	GAC	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.647	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	A	NM_018909	-		140209016	1	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140209016	A	C	140209016	3	2	4	1	0	0	0	0	1	0	0	0	11530	275	10	5	1342	5	PCDHA6	5	140209016	Missense_Mutation	SNP	A	TCGA-3B-A9HO-01A-11D-A387-09	19020993	140209016	40706244	12	130											
OOEP	441161	genome.wustl.edu	37	chr6	74078539	74078539	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcctggggagagtgggggtCtgatgcatgggccttcaagt	17	7	2	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr6:74078539C>G	ENST00000370359.5	-	3	417	c.418G>C	c.(418-420)Gac>Cac	p.D140H	OOEP_ENST00000370363.1_Missense_Mutation_p.D85H|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	140					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GAGTGGGGGTCTGATGCATGG	0.433																																																	0								ENSG00000203907						92	96	95					6																	74078539		1923	4122	6045	OOEP	SO:0001583	missense	0			-	HGNC	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"KH homology domain containing 2"	611689	"chromosome 6 open reading frame 156", "oocyte expressed protein homolog (dog)"	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.418G>C	6.37:g.74078539C>G	ENSP00000359384:p.Asp140His	Somatic	0	71	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	94	10.48	A6NIN5|A9UIB7	Missense_Mutation	SNP							NULL	p.D140H	ENST00000370359.5	37	c.418	CCDS47451.1	6	.	.	.	.	.	.	.	.	.	.	C	8.510	0.866227	0.17250	.	.	ENSG00000203907	ENST00000370363;ENST00000370359	T;T	0.11385	2.78;2.78	3.8	-1.98	0.07480	.	1.366340	0.04969	N	0.463382	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.699;0.924	B;B	0.41764	0.263;0.366	T	0.21724	-1.0237	10	0.51188	T	0.08	1.0973	0.9399	0.01353	0.2067:0.3055:0.2917:0.196	.	85;140	F2Z364;A6NGQ2	.;OOEP_HUMAN	H	85;140	ENSP00000359388:D85H;ENSP00000359384:D140H	ENSP00000359384:D140H	D	-	1	0	OOEP	74135260	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.969000	0.03813	-0.429000	0.07329	-0.251000	0.11542	GAC	-	NULL		0.433	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OOEP	protein_coding	OTTHUMT00000108414.2	C	NM_001080507	-		74078539	-1	no_errors	ENST00000370359	ensembl	human	known	74_37	missense	SNP	0.000	G	G	74078539	C	G	74078539	3	3	4	1	0	0	0	0	1	0	0	0	10872	913	32	4	35	4	OOEP	6	74078539	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09		74078539	97036528	13	131											
TTLL2	83887	genome.wustl.edu	37	chr6	167754992	167754992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcgcactcctgcaagaCcaagacctccccgtgtgtcc	8	18	0	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr6:167754992C>A	ENST00000239587.5	+	3	1692	c.1604C>A	c.(1603-1605)aCc>aAc	p.T535N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	535					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			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)		TCCTGCAAGACCAAGACCTCC	0.547																																																	0								ENSG00000120440						135	116	122					6																	167754992		2203	4300	6503	TTLL2	SO:0001583	missense	0			-	HGNC	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.1604C>A	6.37:g.167754992C>A	ENSP00000239587:p.Thr535Asn	Somatic	0	42	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.T535N	ENST00000239587.5	37	c.1604	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000450	0.19121	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02682	4.2	4.04	-2.25	0.06888	.	1.118960	0.06840	N	0.795439	T	0.00468	0.0015	N	0.24115	0.695	0.09310	N	1	P	0.38978	0.652	B	0.30943	0.122	T	0.45702	-0.9243	10	0.16420	T	0.52	.	1.4426	0.02357	0.2516:0.3563:0.226:0.1661	.	535	Q9BWV7	TTLL2_HUMAN	N	535;462	ENSP00000239587:T535N	ENSP00000239587:T535N	T	+	2	0	TTLL2	167674982	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.991000	0.03728	-0.245000	0.09625	-0.326000	0.08463	ACC	-	NULL		0.547	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	protein_coding	OTTHUMT00000043127.3	C	NM_031949	-		167754992	1	no_errors	ENST00000239587	ensembl	human	known	74_37	missense	SNP	0.000	A	A	167754992	C	A	167754992	3	1	4	1	0	0	0	0	1	0	0	0	16734	507	18	3	1614	3	TTLL2	6	167754992	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	93676453	167754992	3360075	14	132											
COBL	23242	genome.wustl.edu	37	chr7	51096630	51096630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggagagggacacatctctGtcgtaacatcgcatctctga	11	10	2	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr7:51096630G>T	ENST00000265136.7	-	10	2328	c.2163C>A	c.(2161-2163)gaC>gaA	p.D721E	COBL_ENST00000395542.2_Missense_Mutation_p.D803E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	721					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACACATCTCTGTCGTAACATC	0.517																																					NSCLC(189;2119 2138 12223 30818 34679)												0								ENSG00000106078						113	94	101					7																	51096630		2203	4300	6503	COBL	SO:0001583	missense	0			-	HGNC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2163C>A	7.37:g.51096630G>T	ENSP00000265136:p.Asp721Glu	Somatic	0	25	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP							pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.D803E	ENST00000265136.7	37	c.2409	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969750	0.53614	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.15372	2.44;2.43;2.48;2.49	5.83	3.04	0.35103	.	0.000000	0.49305	D	0.000141	T	0.32852	0.0843	L	0.55990	1.75	0.27383	N	0.955367	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.939;0.996;0.999	T	0.03957	-1.0989	10	0.66056	D	0.02	.	9.3039	0.37863	0.3059:0.0:0.6941:0.0	.	721;778;721;803;263	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	721;613;606;803	ENSP00000265136:D721E;ENSP00000401204:D613E;ENSP00000413498:D606E;ENSP00000378912:D803E	ENSP00000265136:D721E	D	-	3	2	COBL	51064124	1.000000	0.71417	0.197000	0.23402	0.305000	0.27757	1.589000	0.36644	0.810000	0.34279	0.655000	0.94253	GAC	-	NULL		0.517	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	protein_coding	OTTHUMT00000342682.1	G	NM_015198	-		51096630	-1	no_errors	ENST00000395542	ensembl	human	known	74_37	missense	SNP	0.807	T	T	51096630	G	T	51096630	3	4	4	1	0	0	0	0	1	0	0	0	3655	1368	48	3	1638	3	COBL	7	51096630	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		51096630	108042033	15	133											
FEZF1	389549	genome.wustl.edu	37	chr7	121944152	121944152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgctgcagctgaatgCgggagccgagggcaccgccg	17	13	0	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr7:121944152C>T	ENST00000442488.2	-	1	407	c.340G>A	c.(340-342)Gca>Aca	p.A114T	FEZF1_ENST00000427185.2_Missense_Mutation_p.A114T|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.A114T|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	114					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|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)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAGCTGAATGCGGGAGCCGAG	0.721																																																	0								ENSG00000128610						8	9	8					7																	121944152		2169	4213	6382	FEZF1	SO:0001583	missense	0			-	HGNC	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.340G>A	7.37:g.121944152C>T	ENSP00000411145:p.Ala114Thr	Somatic	0	33	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.00	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A114T	ENST00000442488.2	37	c.340	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	C	8.904	0.956981	0.18507	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07567	3.18;3.31;3.26	4.09	4.09	0.47781	.	0.218458	0.39985	N	0.001205	T	0.03564	0.0102	N	0.08118	0	0.36561	D	0.872457	P;P	0.46706	0.702;0.883	B;B	0.34180	0.059;0.177	T	0.45160	-0.9280	10	0.49607	T	0.09	-16.1391	9.3943	0.38392	0.1668:0.6902:0.143:0.0	.	114;114	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	T	114	ENSP00000411145:A114T;ENSP00000332777:A114T;ENSP00000392727:A114T	ENSP00000332777:A114T	A	-	1	0	FEZF1	121731388	0.756000	0.28383	0.996000	0.52242	0.173000	0.22820	0.989000	0.29629	2.560000	0.86352	0.555000	0.69702	GCA	-	NULL		0.721	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	protein_coding	OTTHUMT00000347410.1	C	NM_001024613	-		121944152	-1	no_errors	ENST00000442488	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121944152	C	T	121944152	3	4	4	1	0	0	0	0	1	0	0	0	5827	768	27	1	1103	1	FEZF1	7	121944152	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	70847522	121944152	37194511	16	134											
PRSS1	5644	genome.wustl.edu	37	chr7	142460394	142460394	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttctgtgtgggcttcctTgagggaggcaaggattcatg	15	6	2	1	rs377124851	byFrequency	TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr7:142460394T>C	ENST00000311737.7	+	4	573	c.567T>C	c.(565-567)ctT>ctC	p.L189L	PRSS1_ENST00000486171.1_Silent_p.L203L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TGGGCTTCCTTGAGGGAGGCA	0.537													T|||	16	0.00319489	0.0121	0	5008	,	,		19902	0		0	False		,,,				2504	0																0								ENSG00000204983						188	181	183					7																	142460394		2203	4300	6503	PRSS1	SO:0001819	synonymous_variant	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.567T>C	7.37:g.142460394T>C		Somatic	0	53	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	86	18.52	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L189	ENST00000311737.7	37	c.567	CCDS5872.1	7																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	T		-		142460394	1	no_errors	ENST00000311737	ensembl	human	known	74_37	silent	SNP	0.939	C	C	142460394	T	C	142460394	2	2	4	1	0	0	0	0	0	0	0	1	12619	1799	63	5		5	PRSS1	7	142460394	Silent	SNP	T	TCGA-3B-A9HO-01A-11D-A387-09	20516242	142460394	16678269	17	135											
PXDNL	137902	genome.wustl.edu	37	chr8	52321291	52321291	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgcatggcggccagagccaGatgctcgttggcccggtggt	17	11	0	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321291G>C	ENST00000356297.4	-	17	2993	c.2893C>G	c.(2893-2895)Ctg>Gtg	p.L965V	PXDNL_ENST00000543296.1_Missense_Mutation_p.L965V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	965					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)			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)				GCCAGAGCCAGATGCTCGTTG	0.647																																																	0								ENSG00000147485						13	15	14					8																	52321291		1981	4148	6129	PXDNL	SO:0001583	missense	0			-	HGNC		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.2893C>G	8.37:g.52321291G>C	ENSP00000348645:p.Leu965Val	Somatic	0	42	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	52	50.48	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L965V	ENST00000356297.4	37	c.2893	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.494|0.494	-0.873872|-0.873872	0.02570|0.02570	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.69306	.|-0.39;-0.39	3.85|3.85	1.86|1.86	0.25419|0.25419	.|.	.|0.568658	.|0.14351	.|N	.|0.325094	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.31120|0.31120	0.905|0.905	0.28204|0.28204	N|N	0.927222|0.927222	.|P	.|0.35700	.|0.516	.|P	.|0.44647	.|0.456	T|T	0.46105|0.46105	-0.9215|-0.9215	5|10	.|0.09338	.|T	.|0.73	.|.	6.0113|6.0113	0.19578|0.19578	0.1092:0.3771:0.5138:0.0|0.1092:0.3771:0.5138:0.0	.|.	.|965	.|A1KZ92	.|PXDNL_HUMAN	M|V	83|965	.|ENSP00000348645:L965V;ENSP00000444865:L965V	.|ENSP00000348645:L965V	I|L	-|-	3|1	3|2	PXDNL|PXDNL	52483844|52483844	0.915000|0.915000	0.31059|0.31059	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.196000|1.196000	0.32198|0.32198	0.576000|0.576000	0.29452|0.29452	-0.176000|-0.176000	0.13171|0.13171	ATC|CTG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321291	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	SNP	0.921	C	C	52321291	G	C	52321291	3	2	4	1	0	0	0	0	1	0	0	0	12856	933	33	4	1526	4	PXDNL	8	52321291	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		52321291	94042731	18	136			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52321309	52321309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgctcgttggcccggtGgtccccggccaggaaacagg	15	13	0	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321309G>A	ENST00000356297.4	-	17	2975	c.2875C>T	c.(2875-2877)Cac>Tac	p.H959Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.H959Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	959					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)			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)				TTGGCCCGGTGGTCCCCGGCC	0.657																																																	0								ENSG00000147485						12	14	13					8																	52321309		1974	4142	6116	PXDNL	SO:0001583	missense	0			-	HGNC		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.2875C>T	8.37:g.52321309G>A	ENSP00000348645:p.His959Tyr	Somatic	0	53	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	56	49.55	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.H959Y	ENST00000356297.4	37	c.2875	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.098901	0.00360	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68765	-0.35;-0.35	4.16	1.31	0.21738	.	0.504438	0.17961	N	0.156177	T	0.48822	0.1521	L	0.43598	1.365	0.26305	N	0.977916	B	0.13594	0.008	B	0.16722	0.016	T	0.37267	-0.9713	10	0.02654	T	1	.	7.3525	0.26700	0.3094:0.0:0.6906:0.0	.	959	A1KZ92	PXDNL_HUMAN	Y	959	ENSP00000348645:H959Y;ENSP00000444865:H959Y	ENSP00000348645:H959Y	H	-	1	0	PXDNL	52483862	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	3.116000	0.50399	-0.049000	0.13379	0.655000	0.94253	CAC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal		0.657	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321309	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	SNP	0.997	A	A	52321309	G	A	52321309	3	1	4	1	0	0	0	0	1	0	0	0	12856	1348	47	2	1544	2	PXDNL	8	52321309	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	18	52321309	94042713	19	137			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52321339	52321339	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaacaggggctctcctGctcctgtcgcgcgcactcgg	13	15	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321339G>A	ENST00000356297.4	-	17	2945	c.2845C>T	c.(2845-2847)Cag>Tag	p.Q949*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q949*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	949					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)			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)				GGGCTCTCCTGCTCCTGTCGC	0.647																																																	0								ENSG00000147485						13	15	15					8																	52321339		1967	4143	6110	PXDNL	SO:0001587	stop_gained	0			-	HGNC		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.2845C>T	8.37:g.52321339G>A	ENSP00000348645:p.Gln949*	Somatic	0	53	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	53	53.51	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Q949*	ENST00000356297.4	37	c.2845	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.338466	0.98221	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.02	3.01	0.34805	.	1.317580	0.05660	N	0.586776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.9115	0.29793	0.0:0.0:0.5577:0.4423	.	.	.	.	X	949	.	ENSP00000348645:Q949X	Q	-	1	0	PXDNL	52483892	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	5.658000	0.68003	1.775000	0.52247	0.655000	0.94253	CAG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321339	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	nonsense	SNP	0.880	A	A	52321339	G	A	52321339	4	1	4	1	0	0	0	0	0	1	0	0	12856	1328	46	2	1574	2	PXDNL	8	52321339	Nonsense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	30	52321339	94042683	20	138			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52321402	52321402	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caataagggctttccggaggGaggccaaggaaagcctgtct	14	9	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321402G>C	ENST00000356297.4	-	17	2882	c.2782C>G	c.(2782-2784)Ccc>Gcc	p.P928A	PXDNL_ENST00000543296.1_Missense_Mutation_p.P928A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	928					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.P127S(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)				TTTCCGGAGGGAGGCCAAGGA	0.647																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000147485						23	26	25					8																	52321402		1946	4138	6084	PXDNL	SO:0001583	missense	0			-	HGNC		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.2782C>G	8.37:g.52321402G>C	ENSP00000348645:p.Pro928Ala	Somatic	0	40	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	48	52.94	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P928A	ENST00000356297.4	37	c.2782	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.148519	0.00328	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69040	-0.37;-0.37	3.8	-5.61	0.02489	.	0.283161	0.25076	N	0.033340	T	0.44603	0.1301	L	0.55990	1.75	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.38001	-0.9681	10	0.11794	T	0.64	.	1.1746	0.01832	0.2274:0.3713:0.1556:0.2457	.	928	A1KZ92	PXDNL_HUMAN	A	928	ENSP00000348645:P928A;ENSP00000444865:P928A	ENSP00000348645:P928A	P	-	1	0	PXDNL	52483955	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.139000	0.10358	-0.579000	0.05952	-0.121000	0.15023	CCC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321402	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	SNP	0.001	C	C	52321402	G	C	52321402	3	2	4	1	0	0	0	0	1	0	0	0	12856	1174	41	4	1637	4	PXDNL	8	52321402	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	63	52321402	94042620	21	139			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52321456	52321456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcaccgaagggtctctgaGagcctgggattcccgctccg	14	13	1	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321456G>A	ENST00000356297.4	-	17	2828	c.2728C>T	c.(2728-2730)Ctc>Ttc	p.L910F	PXDNL_ENST00000543296.1_Missense_Mutation_p.L910F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	910					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)			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)				GGGTCTCTGAGAGCCTGGGAT	0.582																																																	0								ENSG00000147485						35	40	39					8																	52321456		1962	4137	6099	PXDNL	SO:0001583	missense	0			-	HGNC		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.2728C>T	8.37:g.52321456G>A	ENSP00000348645:p.Leu910Phe	Somatic	0	40	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	42	53.33	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L910F	ENST00000356297.4	37	c.2728	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583892	0.28268	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.85088	-1.94;-1.94	4.17	4.17	0.49024	.	0.000000	0.44483	D	0.000441	D	0.92740	0.7692	M	0.90977	3.165	0.36020	D	0.838664	D	0.89917	1.0	D	0.83275	0.996	D	0.95016	0.8156	10	0.87932	D	0	.	9.4023	0.38440	0.0:0.0:0.7868:0.2132	.	910	A1KZ92	PXDNL_HUMAN	F	910	ENSP00000348645:L910F;ENSP00000444865:L910F	ENSP00000348645:L910F	L	-	1	0	PXDNL	52484009	0.017000	0.18338	0.037000	0.18230	0.010000	0.07245	0.214000	0.17541	1.859000	0.53934	0.655000	0.94253	CTC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.582	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321456	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	SNP	0.845	A	A	52321456	G	A	52321456	3	1	4	1	0	0	0	0	1	0	0	0	12856	942	33	2	1691	2	PXDNL	8	52321456	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	54	52321456	94042566	22	140			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52321601	52321601	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcggggctggagcgcgcgaaGagcatgcagggcgcgtgggt	22	9	0	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321601G>C	ENST00000356297.4	-	17	2683	c.2583C>G	c.(2581-2583)ctC>ctG	p.L861L	PXDNL_ENST00000543296.1_Silent_p.L861L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	861					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)			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)				AGCGCGCGAAGAGCATGCAGG	0.667																																																	0								ENSG00000147485						22	26	24					8																	52321601		2024	4151	6175	PXDNL	SO:0001819	synonymous_variant	0			-	HGNC		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.2583C>G	8.37:g.52321601G>C		Somatic	0	62	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	41	58.59	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L861	ENST00000356297.4	37	c.2583	CCDS47855.1	8																																																																																			-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.667	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321601	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	silent	SNP	1.000	C	C	52321601	G	C	52321601	2	2	4	1	0	0	0	0	0	0	0	1	12856	929	33	4		4	PXDNL	8	52321601	Silent	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	145	52321601	94042421	23	141			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52321892	52321892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaaggccgagcccgcgGggcgcgcggatgccgtcccg	18	15	0	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52321892G>A	ENST00000356297.4	-	17	2392	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	PXDNL_ENST00000543296.1_Silent_p.P764P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	764					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)			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)				CGAGCCCGCGGGGCGCGCGGA	0.781																																																	0								ENSG00000147485						3	4	4					8																	52321892		1336	3034	4370	PXDNL	SO:0001819	synonymous_variant	0			-	HGNC		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.2292C>T	8.37:g.52321892G>A		Somatic	0	8	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P764	ENST00000356297.4	37	c.2292	CCDS47855.1	8																																																																																			-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.781	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52321892	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	silent	SNP	0.218	A	A	52321892	G	A	52321892	2	1	4	1	0	0	0	0	0	0	0	1	12856	1219	43	2		2	PXDNL	8	52321892	Silent	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	291	52321892	94042130	24	142			2	3		8	8	807	G		3.060863e-24
PXDNL	137902	genome.wustl.edu	37	chr8	52322097	52322097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggctgagggagcgcgggGacaccaagtcattgtaccgg	17	9	1	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:52322097G>A	ENST00000356297.4	-	17	2187	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	PXDNL_ENST00000543296.1_Missense_Mutation_p.S696F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	696					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)			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)				GGAGCGCGGGGACACCAAGTC	0.612																																																	0								ENSG00000147485						29	34	32					8																	52322097		2092	4212	6304	PXDNL	SO:0001583	missense	0			-	HGNC		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.2087C>T	8.37:g.52322097G>A	ENSP00000348645:p.Ser696Phe	Somatic	0	77	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	46	57.41	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.S696F	ENST00000356297.4	37	c.2087	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727054	0.30593	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.67698	-0.28;-0.27	3.72	0.812	0.18744	.	.	.	.	.	T	0.79251	0.4414	M	0.83953	2.67	0.28852	N	0.895987	D	0.89917	1.0	D	0.72075	0.976	T	0.69359	-0.5166	8	.	.	.	.	7.3829	0.26866	0.3182:0.0:0.6818:0.0	.	696	A1KZ92	PXDNL_HUMAN	F	696	ENSP00000348645:S696F;ENSP00000444865:S696F	.	S	-	2	0	PXDNL	52484650	1.000000	0.71417	0.044000	0.18714	0.057000	0.15508	5.423000	0.66458	-0.080000	0.12685	-0.258000	0.10820	TCC	-	NULL		0.612	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52322097	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	SNP	0.996	A	A	52322097	G	A	52322097	3	1	4	1	0	0	0	0	1	0	0	0	12856	1174	41	2	2332	2	PXDNL	8	52322097	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	205	52322097	94041925	25	143			2	3		8	8	807	G		3.060863e-24
PREX2	80243	genome.wustl.edu	37	chr8	68992747	68992747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcggatgaggaaatggaggGatcaaatatgaaacatcgac	12	5	1	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr8:68992747G>A	ENST00000288368.4	+	16	1989	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	571					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAATGGAGGGATCAAATATG	0.308																																																	0								ENSG00000046889						80	79	80					8																	68992747		2203	4300	6503	PREX2	SO:0001583	missense	0			-	HGNC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1712G>A	8.37:g.68992747G>A	ENSP00000288368:p.Gly571Glu	Somatic	0	51	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	326	12.60	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP							pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G571E	ENST00000288368.4	37	c.1712	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804555	0.90623	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.13538	2.58	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (1);	0.121024	0.56097	D	0.000034	T	0.37210	0.0995	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.972	D;P;P	0.87578	0.998;0.893;0.868	T	0.03587	-1.1022	10	0.72032	D	0.01	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	571;571;571	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	E	571	ENSP00000288368:G571E	ENSP00000288368:G571E	G	+	2	0	PREX2	69155301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.626000	0.88956	0.650000	0.86243	GGA	-	superfamily_PDZ		0.308	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	protein_coding	OTTHUMT00000378620.1	G	NM_025170	-		68992747	1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68992747	G	A	68992747	3	1	4	1	0	0	0	0	1	0	0	0	12482	1174	41	2	1774	2	PREX2	8	68992747	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	16670650	68992747	77371275	26	144											
SHC3	53358	genome.wustl.edu	37	chr9	91690129	91690129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccaagatgctggacagCattttgcttggaggctgtga	12	8	0	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr9:91690129C>A	ENST00000375835.4	-	4	930	c.624G>T	c.(622-624)atG>atT	p.M208I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	208	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGCTGGACAGCATTTTGCTTG	0.493																																																	0								ENSG00000148082						136	124	128					9																	91690129		2203	4300	6503	SHC3	SO:0001583	missense	0			-	HGNC	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.624G>T	9.37:g.91690129C>A	ENSP00000364995:p.Met208Ile	Somatic	0	41	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	70	13.58	Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.M208I	ENST00000375835.4	37	c.624	CCDS6681.1	9	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488574	0.12641	.	.	ENSG00000148082	ENST00000375835	T	0.19250	2.16	4.82	3.88	0.44766	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.514704	0.23746	N	0.044975	T	0.06872	0.0175	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29274	-1.0017	10	0.20519	T	0.43	-18.662	7.0315	0.24970	0.2875:0.5439:0.1687:0.0	.	208	Q92529	SHC3_HUMAN	I	208	ENSP00000364995:M208I	ENSP00000364995:M208I	M	-	3	0	SHC3	90879949	0.998000	0.40836	1.000000	0.80357	0.856000	0.48823	0.782000	0.26788	2.497000	0.84241	0.563000	0.77884	ATG	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.493	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC3	protein_coding	OTTHUMT00000052986.1	C	NM_016848	-		91690129	-1	no_errors	ENST00000375835	ensembl	human	known	74_37	missense	SNP	0.989	A	A	91690129	C	A	91690129	3	1	4	1	0	0	0	0	1	0	0	0	14280	710	25	3	1196	3	SHC3	9	91690129	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09		91690129	49523302	27	145											
SECISBP2	79048	genome.wustl.edu	37	chr9	91964806	91964806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccttgctcccaatcaCaccaccttccctaagatcca	2	20	1	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr9:91964806C>T	ENST00000375807.3	+	13	1925	c.1854C>T	c.(1852-1854)caC>caT	p.H618H	SECISBP2_ENST00000339901.4_Silent_p.H545H|SECISBP2_ENST00000534113.2_Silent_p.H550H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	618					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTCCCAATCACACCACCTTCC	0.577																																																	0								ENSG00000187742						136	112	120					9																	91964806		2203	4300	6503	SECISBP2	SO:0001819	synonymous_variant	0			-	HGNC	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1854C>T	9.37:g.91964806C>T		Somatic	0	33	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP							pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.H618	ENST00000375807.3	37	c.1854	CCDS6683.1	9																																																																																			-	NULL		0.577	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	protein_coding	OTTHUMT00000052990.3	C	NM_024077	-		91964806	1	no_errors	ENST00000375807	ensembl	human	known	74_37	silent	SNP	0.000	T	T	91964806	C	T	91964806	2	4	4	1	0	0	0	0	0	0	0	1	14014	477	17	2		2	SECISBP2	9	91964806	Silent	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	274677	91964806	49248625	28	146											
AFAP1L2	84632	genome.wustl.edu	37	chr10	116064626	116064626	+	Frame_Shift_Del	DEL	T	T	-													ggtcctggtagaagtgcaggTgattgtccctgacagagcac							TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr10:116064626delT	ENST00000304129.4	-	11	1165	c.1136delA	c.(1135-1137)cacfs	p.H379fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.H432fs|AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.H379fs			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	379	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAAGTGCAGGTGATTGTCCCT	0.637																																																	0								ENSG00000169129						77	69	72					10																	116064626		2202	4299	6501	AFAP1L2	SO:0001589	frameshift_variant	0				HGNC	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1136delA	10.37:g.116064626delT	ENSP00000303042:p.His379fs	Somatic	0	66	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H432fs	ENST00000304129.4	37	c.1295	CCDS31286.1	10																																																																																			-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.637	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	protein_coding	OTTHUMT00000050462.1	T	NM_032550			116064626	-1	no_errors	ENST00000545353	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	116064626	T	-	116064626	7	5	4	1	0	1	0	1	0	0	0	0	355	1696	59	0	1356	0	AFAP1L2	10	116064626	Frame_Shift_Del	DEL	T	TCGA-3B-A9HO-01A-11D-A387-09		116064626	19470121	29	147											
MUC2	4583	genome.wustl.edu	37	chr11	1098695	1098695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactactacgatgcctgCgtgttcgacagctgcttcat	9	13	1	0	rs370421370		TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr11:1098695C>T	ENST00000441003.2	+	37	7092	c.7065C>T	c.(7063-7065)tgC>tgT	p.C2355C	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4717					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACGATGCCTGCGTGTTCGACA	0.647																																																	0								ENSG00000198788	C		1,4237		0,1,2118	23	28	26		7050	3.1	0.4	11		26	0,8478		0,0,4239	no	coding-synonymous	MUC2	NM_002457.2		0,1,6357	TT,TC,CC		0.0,0.0236,0.0079		2350/2813	1098695	1,12715	2119	4239	6358	MUC2	SO:0001819	synonymous_variant	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7065C>T	11.37:g.1098695C>T		Somatic	0	92	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	74	13.95	Q14878	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.C2355	ENST00000441003.2	37	c.7065		11																																																																																			-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	C	NM_002457	-		1098695	1	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	SNP	0.647	T	T	1098695	C	T	1098695	2	4	4	1	0	0	0	0	0	0	0	1	9977	776	27	1		1	MUC2	11	1098695	Silent	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09		1098695	133907821	30	148											
ABTB2	25841	genome.wustl.edu	37	chr11	34175853	34175853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggcactctccatgctgaGggtctgggagcacaggatct	13	12	3	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr11:34175853G>T	ENST00000435224.2	-	16	3263	c.2839C>A	c.(2839-2841)Ctc>Atc	p.L947I	ABTB2_ENST00000298992.2_Missense_Mutation_p.L761I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	947					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGCTGAGGGTCTGGGAG	0.627																																																	0								ENSG00000166016						110	80	90					11																	34175853		2202	4298	6500	ABTB2	SO:0001583	missense	0			-	HGNC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2839C>A	11.37:g.34175853G>T	ENSP00000410157:p.Leu947Ile	Somatic	0	35	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.L947I	ENST00000435224.2	37	c.2839	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	1.036	-0.680469	0.03353	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.57436	0.4;0.41	4.63	3.63	0.41609	BTB/POZ-like (1);BTB/POZ fold (1);	0.261873	0.32175	N	0.006473	T	0.14917	0.0360	N	0.00303	-1.675	0.35608	D	0.808406	B	0.02656	0.0	B	0.06405	0.002	T	0.34129	-0.9841	10	0.02654	T	1	-3.8017	10.1487	0.42780	0.0:0.0:0.3585:0.6415	.	761	Q8N961	ABTB2_HUMAN	I	947;761	ENSP00000410157:L947I;ENSP00000298992:L761I	ENSP00000298992:L761I	L	-	1	0	ABTB2	34132429	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	6.683000	0.74533	0.855000	0.35359	0.313000	0.20887	CTC	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.627	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	protein_coding	OTTHUMT00000388703.3	G	NM_145804	-		34175853	-1	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34175853	G	T	34175853	3	4	4	1	0	0	0	0	1	0	0	0	103	1000	35	3	246	3	ABTB2	11	34175853	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	33077158	34175853	100830663	31	149											
PRR5L	79899	genome.wustl.edu	37	chr11	36472837	36472837	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagtggtttctcctttcCtcggcatcagcggggaccgt	12	12	2	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr11:36472837C>A	ENST00000378867.3	+	9	1019	c.664C>A	c.(664-666)Ctc>Atc	p.L222I	PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.L149I|PRR5L_ENST00000530639.1_Missense_Mutation_p.L222I|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	222					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TTCTCCTTTCCTCGGCATCAG	0.537																																																	0								ENSG00000135362						167	137	147					11																	36472837		2202	4298	6500	PRR5L	SO:0001583	missense	0			-	HGNC		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.664C>A	11.37:g.36472837C>A	ENSP00000368144:p.Leu222Ile	Somatic	0	52	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	91	12.50	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP							pfam_HbrB	p.L222I	ENST00000378867.3	37	c.664	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224609	0.39300	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	D;D;D	0.87256	-2.23;-2.23;-2.23	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	D	0.91968	0.7456	M	0.78049	2.395	0.42021	D	0.990988	D;P	0.67145	0.996;0.842	D;B	0.75484	0.986;0.254	D	0.91817	0.5464	10	0.52906	T	0.07	-50.471	8.8158	0.34996	0.0:0.7655:0.1527:0.0818	.	94;222	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	I	222;149;222	ENSP00000435050:L222I;ENSP00000310103:L149I;ENSP00000368144:L222I	ENSP00000310103:L149I	L	+	1	0	PRR5L	36429413	1.000000	0.71417	0.966000	0.40874	0.512000	0.34134	2.253000	0.43205	2.417000	0.82017	0.313000	0.20887	CTC	-	NULL		0.537	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	protein_coding	OTTHUMT00000389209.1	C	NM_024841	-		36472837	1	no_errors	ENST00000378867	ensembl	human	known	74_37	missense	SNP	0.998	A	A	36472837	C	A	36472837	3	1	4	1	0	0	0	0	1	0	0	0	12607	681	24	3	696	3	PRR5L	11	36472837	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	2296984	36472837	98533679	32	150											
PRB4	5545	genome.wustl.edu	37	chr12	11461420	11461420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgtttccttcctgtgggGgtggtccttctggctttcct	11	11	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:11461420G>A	ENST00000535904.1	-	3	530	c.497C>T	c.(496-498)cCc>cTc	p.P166L	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.P166L			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	187	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCCTGTGGGGGTGGTCCTTC	0.597										HNSCC(22;0.051)																																							0								ENSG00000230657						188	206	200					12																	11461420		2203	4299	6502	PRB4	SO:0001583	missense	0			-	HGNC		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.497C>T	12.37:g.11461420G>A	ENSP00000442834:p.Pro166Leu	Somatic	0	54	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	76	24.00	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP							NULL	p.P166L	ENST00000535904.1	37	c.497	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	6.591	0.477358	0.12521	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.27402	1.67;1.67	1.05	-0.00985	0.13999	.	.	.	.	.	T	0.45657	0.1353	M	0.81497	2.545	0.09310	N	1	D	0.71674	0.998	P	0.58454	0.839	T	0.29822	-0.9999	9	0.66056	D	0.02	.	4.7736	0.13167	0.0:0.4011:0.5989:0.0	.	166	E9PAL0	.	L	166	ENSP00000279575:P166L;ENSP00000442834:P166L	ENSP00000279575:P166L	P	-	2	0	PRB4	11352687	0.007000	0.16637	0.000000	0.03702	0.003000	0.03518	2.399000	0.44495	-0.012000	0.14223	0.508000	0.49915	CCC	-	NULL		0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	protein_coding	OTTHUMT00000402308.1	G	NM_002723	-		11461420	-1	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	SNP	0.002	A	A	11461420	G	A	11461420	3	1	4	1	0	0	0	0	1	0	0	0	12450	1232	43	2	250	2	PRB4	12	11461420	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		11461420	122390475	33	151											
PAN2	10330	genome.wustl.edu	37	chr12	56712911	56712911	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgcagggaaatcattcGttttcggggcatatggaaca	12	7	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:56712911G>A	ENST00000273308.4	-	0	0				PAN2_ENST00000440411.3_Nonsense_Mutation_p.R1109*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.R1113*|PAN2_ENST00000425394.2_Nonsense_Mutation_p.R1113*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.R1112*|PAN2_ENST00000549090.1_Intron	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GAAATCATTCGTTTTCGGGGC	0.478																																																	0								ENSG00000135473						105	95	99					12																	56712911		2203	4300	6503	PAN2	SO:0001631	upstream_gene_variant	0			-	HGNC	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712911G>A	Exception_encountered	Somatic	0	42	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	B2R7B9|Q9UHE9	Nonsense_Mutation	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67	p.R1113*	ENST00000273308.4	37	c.3337	CCDS8914.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.649212	0.99444	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0887	11.9769	0.53098	0.0:0.0:0.7239:0.276	.	.	.	.	X	1113;1109;1112;1113	.	ENSP00000257931:R1112X	R	-	1	2	PAN2	54999178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.715000	0.92844	0.655000	0.94253	CGA	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.478	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAN2	protein_coding	OTTHUMT00000408546.1	G	NM_014255	-		56712911	-1	no_errors	ENST00000425394	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	56712911	G	A	56712911	1	1	4	0	1	0	0	0	0	0	0	0	11416	1153	40	1		1	PAN2	12	56712911	5'Flank	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	45251491	56712911	77138984	34	152											
MARCH9	92979	genome.wustl.edu	37	chr12	58150836	58150836	+	Missense_Mutation	SNP	T	T	C													ctgctacttcaagtaccaggTcctggcgatcagcaccaaga							TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:58150836T>C	ENST00000266643.5	+	2	913	c.482T>C	c.(481-483)gTc>gCc	p.V161A	MARCH9_ENST00000548358.1_5'Flank	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	161					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AAGTACCAGGTCCTGGCGATC	0.602											OREG0021952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139266						28	23	24					12																	58150836		2189	4277	6466	MARCH9	SO:0001583	missense	0			-	HGNC	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.482T>C	12.37:g.58150836T>C	ENSP00000266643:p.Val161Ala	Somatic	0	90	0	1028	0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	167	88	65.23	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.V161A	ENST00000266643.5	37	c.482	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	T	35	5.563164	0.96527	.	.	ENSG00000139266	ENST00000266643	T	0.57752	0.38	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.54924	0.764	T	0.62751	-0.6788	10	0.87932	D	0	.	14.3038	0.66373	0.0:0.0:0.0:1.0	.	161	Q86YJ5	MARH9_HUMAN	A	161	ENSP00000266643:V161A	ENSP00000266643:V161A	V	+	2	0	MARCH9	56437103	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.868000	0.87116	2.212000	0.71576	0.459000	0.35465	GTC	-	NULL		0.602	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	protein_coding	OTTHUMT00000409244.1	T	NM_138396	-		58150836	1	no_errors	ENST00000266643	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58150836	T	C	58150836	3	2	4	1	0	0	0	0	1	0	0	0	9310	1667	58	5	488	5	MARCH9	12	58150836	Missense_Mutation	SNP	T	TCGA-3B-A9HO-01A-11D-A387-09	1437925	58150836	75701059	35	153	1	2									
MARCH9	92979	genome.wustl.edu	37	chr12	58150839	58150839	+	Missense_Mutation	SNP	T	T	A													ctacttcaagtaccaggtccTggcgatcagcaccaagaacc							TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:58150839T>A	ENST00000266643.5	+	2	916	c.485T>A	c.(484-486)cTg>cAg	p.L162Q	MARCH9_ENST00000548358.1_5'Flank	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	162					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TACCAGGTCCTGGCGATCAGC	0.602											OREG0021952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139266						28	23	25					12																	58150839		2190	4276	6466	MARCH9	SO:0001583	missense	0			-	HGNC	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.485T>A	12.37:g.58150839T>A	ENSP00000266643:p.Leu162Gln	Somatic	0	91	0	1028	0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	156	91	62.90	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L162Q	ENST00000266643.5	37	c.485	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934920	0.92458	.	.	ENSG00000139266	ENST00000266643	T	0.57595	0.39	5.27	5.27	0.74061	Zinc finger, RING-CH-type (1);	0.000000	0.64402	D	0.000002	T	0.52709	0.1751	N	0.16368	0.405	0.80722	D	1	D	0.58620	0.983	P	0.57960	0.83	T	0.59778	-0.7390	10	0.87932	D	0	.	14.3038	0.66373	0.0:0.0:0.0:1.0	.	162	Q86YJ5	MARH9_HUMAN	Q	162	ENSP00000266643:L162Q	ENSP00000266643:L162Q	L	+	2	0	MARCH9	56437106	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.017000	0.70805	2.212000	0.71576	0.459000	0.35465	CTG	-	NULL		0.602	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	protein_coding	OTTHUMT00000409244.1	T	NM_138396	-		58150839	1	no_errors	ENST00000266643	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58150839	T	A	58150839	3	1	4	1	0	0	0	0	1	0	0	0	9310	1580	55	5	491	5	MARCH9	12	58150839	Missense_Mutation	SNP	T	TCGA-3B-A9HO-01A-11D-A387-09	3	58150839	75701056	36	154	1	2									
EEA1	8411	genome.wustl.edu	37	chr12	93244995	93244995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagtgtttgaacttggacCagttctttctttagcacggc	9	8	2	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:93244995C>T	ENST00000322349.8	-	9	954	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	230					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GAACTTGGACCAGTTCTTTCT	0.338																																																	0								ENSG00000102189						110	95	100					12																	93244995		2203	4300	6503	EEA1	SO:0001819	synonymous_variant	0			-	HGNC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.690G>A	12.37:g.93244995C>T		Somatic	0	63	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	234	321	42.16	Q14221	Silent	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.L230	ENST00000322349.8	37	c.690	CCDS31874.1	12																																																																																			-	NULL		0.338	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	C	NM_003566	-		93244995	-1	no_errors	ENST00000322349	ensembl	human	known	74_37	silent	SNP	1.000	T	T	93244995	C	T	93244995	2	4	4	1	0	0	0	0	0	0	0	1	4923	581	21	2		2	EEA1	12	93244995	Silent	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	35094156	93244995	40606900	37	155			3	4		4	4	1705	N	G_C	5.126606e-09
EEA1	8411	genome.wustl.edu	37	chr12	93246049	93246049	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcttctcgaagactcctttCttcatcatactttgacttta	4	11	4	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:93246049C>T	ENST00000322349.8	-	8	808	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	182					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGACTCCTTTCTTCATCATAC	0.328																																																	0								ENSG00000102189						94	90	91					12																	93246049		2202	4299	6501	EEA1	SO:0001583	missense	0			-	HGNC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.544G>A	12.37:g.93246049C>T	ENSP00000317955:p.Glu182Lys	Somatic	0	52	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	189	307	38.10	Q14221	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E182K	ENST00000322349.8	37	c.544	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.127836	0.94473	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.64803	-0.12	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000041	T	0.69415	0.3108	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.73380	0.98	T	0.61068	-0.7137	10	0.11485	T	0.65	.	19.7627	0.96329	0.0:1.0:0.0:0.0	.	182	Q15075	EEA1_HUMAN	K	182;181	ENSP00000317955:E182K	ENSP00000317955:E182K	E	-	1	0	EEA1	91770180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.718000	0.74713	2.660000	0.90430	0.643000	0.83706	GAA	-	NULL		0.328	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	C	NM_003566	-		93246049	-1	no_errors	ENST00000322349	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93246049	C	T	93246049	3	4	4	1	0	0	0	0	1	0	0	0	4923	922	32	2	3779	2	EEA1	12	93246049	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	1054	93246049	40605846	38	156			3	4		4	4	1705	N	G_C	5.126606e-09
EEA1	8411	genome.wustl.edu	37	chr12	93246073	93246073	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatactttgactttatatCtaattaaagatagttatata	3	4	2	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:93246073C>T	ENST00000322349.8	-	8	785		c.e8-1			NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1						early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GACTTTATATCTAATTAAAGA	0.303																																																	0								ENSG00000102189						49	49	49					12																	93246073		2203	4300	6503	EEA1	SO:0001630	splice_region_variant	0			-	HGNC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.521-1G>A	12.37:g.93246073C>T		Somatic	0	37	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	159	262	37.68	Q14221	Splice_Site	SNP							-	e8-1	ENST00000322349.8	37	c.521-1	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154306	0.78114	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7627	0.96329	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EEA1	91770204	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.940000	0.75917	2.660000	0.90430	0.643000	0.83706	.	-	-		0.303	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	C	NM_003566	-	Intron	93246073	-1	no_errors	ENST00000322349	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	93246073	C	T	93246073	5	4	4	1	0	0	0	0	0	0	1	0	4923	927	32	2	3803	2	EEA1	12	93246073	Splice_Site	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	24	93246073	40605822	39	157			3	4		4	4	1705	N	G_C	5.126606e-09
EEA1	8411	genome.wustl.edu	37	chr12	93246699	93246699	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaatttacctgcaatttcaGtagcaagttgggctgctttc	8	9	2	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:93246699G>C	ENST00000322349.8	-	7	773	c.509C>G	c.(508-510)aCt>aGt	p.T170S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	170					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCAATTTCAGTAGCAAGTTG	0.303																																																	0								ENSG00000102189						128	141	137					12																	93246699		2203	4297	6500	EEA1	SO:0001583	missense	0			-	HGNC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.509C>G	12.37:g.93246699G>C	ENSP00000317955:p.Thr170Ser	Somatic	0	49	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	213	366	36.79	Q14221	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.T170S	ENST00000322349.8	37	c.509	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083556	0.76642	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.67345	-0.26	4.8	4.8	0.61643	.	0.000000	0.51477	D	0.000087	T	0.71134	0.3304	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.70716	0.97	T	0.64984	-0.6278	10	0.09843	T	0.71	.	17.8704	0.88808	0.0:0.0:1.0:0.0	.	170	Q15075	EEA1_HUMAN	S	170;169	ENSP00000317955:T170S	ENSP00000317955:T170S	T	-	2	0	EEA1	91770830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.056000	0.93881	2.190000	0.69967	0.563000	0.77884	ACT	-	NULL		0.303	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	G	NM_003566	-		93246699	-1	no_errors	ENST00000322349	ensembl	human	known	74_37	missense	SNP	1.000	C	C	93246699	G	C	93246699	3	2	4	1	0	0	0	0	1	0	0	0	4923	1029	36	4	3818	4	EEA1	12	93246699	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	626	93246699	40605196	40	158			3	4		4	4	1705	N	G_C	5.126606e-09
ACAD10	80724	genome.wustl.edu	37	chr12	112167686	112167686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actagcaccatcccagccatGgagaggctgatcgaatggct	11	12	0	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:112167686G>A	ENST00000313698.4	+	10	1475	c.1320G>A	c.(1318-1320)atG>atA	p.M440I	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.M440I|ACAD10_ENST00000455480.2_Missense_Mutation_p.M471I|ACAD10_ENST00000392636.2_Missense_Mutation_p.M42I	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	440						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCCCAGCCATGGAGAGGCTGA	0.557																																																	0								ENSG00000111271						75	65	68					12																	112167686		2203	4300	6503	ACAD10	SO:0001583	missense	0			-	HGNC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1320G>A	12.37:g.112167686G>A	ENSP00000325137:p.Met440Ile	Somatic	0	35	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	735	9.69	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.M471I	ENST00000313698.4	37	c.1413	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065215	0.76187	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.37	5.37	0.77165	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	M	0.62088	1.915	0.51012	D	0.999904	P;D;D	0.76494	0.869;0.999;0.996	P;D;D	0.85130	0.563;0.997;0.917	T	0.53308	-0.8457	10	0.49607	T	0.09	.	18.6848	0.91559	0.0:0.0:1.0:0.0	.	471;440;440	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	I	42;440;440;471;440	ENSP00000376411:M42I;ENSP00000446959:M440I;ENSP00000389813:M471I;ENSP00000325137:M440I	ENSP00000325137:M440I	M	+	3	0	ACAD10	110652069	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	7.095000	0.76952	2.499000	0.84300	0.655000	0.94253	ATG	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.557	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	protein_coding	OTTHUMT00000368307.1	G	NM_025247	-		112167686	1	no_errors	ENST00000455480	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112167686	G	A	112167686	3	1	4	1	0	0	0	0	1	0	0	0	108	1348	47	2	1451	2	ACAD10	12	112167686	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	18920987	112167686	21684209	41	159											
NOS1	4842	genome.wustl.edu	37	chr12	117662836	117662836	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccacctttgtgttggatatCaaattgccgctgttgccaga	9	11	1	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:117662836C>G	ENST00000338101.4	-	25	3917	c.3913G>C	c.(3913-3915)Gat>Cat	p.D1305H	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.D1271H			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)			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)		TGTTGGATATCAAATTGCCGC	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						153	166	162					12																	117662836		1954	4148	6102	NOS1	SO:0001583	missense	0			-	HGNC		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.3913G>C	12.37:g.117662836C>G	ENSP00000337459:p.Asp1305His	Somatic	0	35	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	197	8.80		Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D1271H	ENST00000338101.4	37	c.3811	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923064	0.73213	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.87887	-2.31;-2.31	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);	0.094549	0.64402	D	0.000001	D	0.92506	0.7620	M	0.63208	1.945	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.93199	0.6590	10	0.87932	D	0	-36.1556	18.3244	0.90248	0.0:1.0:0.0:0.0	.	1271	P29475	NOS1_HUMAN	H	1166;1271;1305	ENSP00000320758:D1271H;ENSP00000337459:D1305H	ENSP00000320758:D1271H	D	-	1	0	NOS1	116147219	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.896000	0.69822	2.555000	0.86185	0.561000	0.74099	GAT	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	C		-		117662836	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	1.000	G	G	117662836	C	G	117662836	3	3	4	1	0	0	0	0	1	0	0	0	10543	826	29	4	513	4	NOS1	12	117662836	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	5495150	117662836	16189059	42	160											
ULK1	8408	genome.wustl.edu	37	chr12	132399938	132399938	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctccccacagggagctgaGatgcggggtggcaggtcccc	15	15	0	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr12:132399938G>A	ENST00000321867.4	+	18	1932	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	527					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGGGAGCTGAGATGCGGGGTG	0.647																																																	0								ENSG00000177169						34	40	38					12																	132399938		2199	4299	6498	ULK1	SO:0001819	synonymous_variant	0			-	HGNC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1581G>A	12.37:g.132399938G>A		Somatic	0	105	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	147	828	15.06	Q9UQ28	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E527	ENST00000321867.4	37	c.1581	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	G	8.586	0.883459	0.17467	.	.	ENSG00000177169	ENST00000538444	.	.	.	4.61	2.69	0.31865	.	.	.	.	.	T	0.37100	0.0991	.	.	.	0.24886	N	0.992194	.	.	.	.	.	.	T	0.37407	-0.9707	5	0.87932	D	0	-27.5352	3.386	0.07272	0.1862:0.0:0.5772:0.2366	.	.	.	.	K	42	.	ENSP00000439648:R42K	R	+	2	0	ULK1	130965891	0.189000	0.23263	0.584000	0.28653	0.045000	0.14185	0.392000	0.20801	0.872000	0.35775	0.462000	0.41574	AGA	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.647	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	protein_coding	OTTHUMT00000397769.3	G		-		132399938	1	no_errors	ENST00000321867	ensembl	human	known	74_37	silent	SNP	0.312	A	A	132399938	G	A	132399938	2	1	4	1	0	0	0	0	0	0	0	1	16982	933	33	2		2	ULK1	12	132399938	Silent	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	14737102	132399938	1451957	43	161											
UGGT2	55757	genome.wustl.edu	37	chr13	96511890	96511890	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaaccagaatttcacTggtgttttggtgttacgcaa	9	7	1	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr13:96511890T>A	ENST00000376747.3	-	33	3850	c.3780A>T	c.(3778-3780)ccA>ccT	p.P1260P		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1260	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGAATTTCACTGGTGTTTTGG	0.279																																																	0								ENSG00000102595						58	59	59					13																	96511890		2203	4280	6483	UGGT2	SO:0001819	synonymous_variant	0			-	HGNC	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3780A>T	13.37:g.96511890T>A		Somatic	0	59	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	121	19.33	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP							pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.P1260	ENST00000376747.3	37	c.3780	CCDS9480.1	13																																																																																			-	pfam_Glyco_trans_8		0.279	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	protein_coding	OTTHUMT00000045507.1	T	NM_020121	-		96511890	-1	no_errors	ENST00000376747	ensembl	human	known	74_37	silent	SNP	0.656	A	A	96511890	T	A	96511890	2	1	4	1	0	0	0	0	0	0	0	1	16949	1567	55	5		5	UGGT2	13	96511890	Silent	SNP	T	TCGA-3B-A9HO-01A-11D-A387-09		96511890	18657988	44	162											
FARP1	10160	genome.wustl.edu	37	chr13	99043120	99043120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggaggacataagaaGgtgcagtttgaaaggtaaga	14	2	0	4			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr13:99043120G>A	ENST00000319562.6	+	11	1339	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	FARP1_ENST00000595437.1_Silent_p.K358K|FARP1_ENST00000376586.2_Silent_p.K358K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	358					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GACATAAGAAGGTGCAGTTTG	0.448																																																	0								ENSG00000152767						155	141	146					13																	99043120		2203	4300	6503	FARP1	SO:0001819	synonymous_variant	0			-	HGNC	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1074G>A	13.37:g.99043120G>A		Somatic	0	41	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	73	15.12	Q5JVI9|Q6IQ29	Silent	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K358	ENST00000319562.6	37	c.1074	CCDS9487.1	13																																																																																			-	pfam_FERM-adjacent		0.448	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	protein_coding	OTTHUMT00000045541.3	G	NM_005766	-		99043120	1	no_errors	ENST00000376586	ensembl	human	known	74_37	silent	SNP	0.994	A	A	99043120	G	A	99043120	2	1	4	1	0	0	0	0	0	0	0	1	5678	991	35	2		2	FARP1	13	99043120	Silent	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	2531230	99043120	16126758	45	163											
ZC3H14	79882	genome.wustl.edu	37	chr14	89069266	89069266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacatgtcagatcaagagGaggacatgtgctttgaagga	13	5	2	3			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr14:89069266G>A	ENST00000251038.5	+	12	1834	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ZC3H14_ENST00000555755.1_Missense_Mutation_p.E537K|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E512K|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.E239K|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	537						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGATCAAGAGGAGGACATGTG	0.507																																																	0								ENSG00000100722						126	104	112					14																	89069266		2203	4300	6503	ZC3H14	SO:0001583	missense	0			-	HGNC	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1609G>A	14.37:g.89069266G>A	ENSP00000251038:p.Glu537Lys	Somatic	0	30	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	50	18.03	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP							smart_Znf_CCCH	p.E537K	ENST00000251038.5	37	c.1609	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.235869	0.95240	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900	.	.	.	5.97	5.97	0.96955	.	0.246350	0.41605	D	0.000848	T	0.77157	0.4089	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.974	D;P;P	0.78314	0.991;0.647;0.647	T	0.69316	-0.5177	9	0.20046	T	0.44	-19.6729	20.4387	0.99107	0.0:0.0:1.0:0.0	.	537;537;537	G3V5R4;Q6PJT7-2;Q6PJT7	.;.;ZC3HE_HUMAN	K	537;512;537;537;512;239	.	ENSP00000251038:E537K	E	+	1	0	ZC3H14	88139019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.759000	0.74934	2.836000	0.97738	0.655000	0.94253	GAG	-	NULL		0.507	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	protein_coding	OTTHUMT00000410387.1	G	NM_024824	-		89069266	1	no_errors	ENST00000251038	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89069266	G	A	89069266	3	1	4	1	0	0	0	0	1	0	0	0	17573	1175	41	2	2044	2	ZC3H14	14	89069266	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		89069266	18280274	46	164											
OR4F6	390648	genome.wustl.edu	37	chr15	102346298	102346298	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaccgatatgtggccAtatgtaagcctctccactac	7	12	1	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr15:102346298A>T	ENST00000328882.4	+	1	397	c.376A>T	c.(376-378)Ata>Tta	p.I126L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATATGTGGCCATATGTAAGCC	0.438																																																	0								ENSG00000184140						249	221	231					15																	102346298		2203	4300	6503	OR4F6	SO:0001583	missense	0			-	HGNC	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.376A>T	15.37:g.102346298A>T	ENSP00000327525:p.Ile126Leu	Somatic	0	50	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	146	14.62	B9EH28|Q6IF95	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I126L	ENST00000328882.4	37	c.376	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	18.19	3.569578	0.65765	.	.	ENSG00000184140	ENST00000328882	T	0.57595	0.39	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.72598	0.3480	H	0.99498	4.595	0.41121	D	0.985811	B	0.31752	0.338	B	0.33620	0.167	T	0.80828	-0.1208	10	0.72032	D	0.01	.	12.5721	0.56342	1.0:0.0:0.0:0.0	.	126	Q8NGB9	OR4F6_HUMAN	L	126	ENSP00000327525:I126L	ENSP00000327525:I126L	I	+	1	0	OR4F6	100163821	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	5.489000	0.66875	2.139000	0.66308	0.482000	0.46254	ATA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.438	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	protein_coding	OTTHUMT00000417593.1	A		-		102346298	1	no_errors	ENST00000328882	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102346298	A	T	102346298	3	4	4	1	0	0	0	0	1	0	0	0	11068	217	8	5	378	5	OR4F6	15	102346298	Missense_Mutation	SNP	A	TCGA-3B-A9HO-01A-11D-A387-09		102346298	185094	47	165											
ZFPM1	161882	genome.wustl.edu	37	chr16	88594452	88594452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccagatgacgcactctGgtgcagggtcaccaagccgg	12	15	2	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr16:88594452G>T	ENST00000319555.3	+	6	840	c.518G>T	c.(517-519)tGg>tTg	p.W173L	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	173					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GACGCACTCTGGTGCAGGGTC	0.642																																					Pancreas(49;850 1106 29641 32847 38344)												0								ENSG00000179588						11	16	14					16																	88594452		2135	4220	6355	ZFPM1	SO:0001583	missense	0			-	HGNC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.518G>T	16.37:g.88594452G>T	ENSP00000326630:p.Trp173Leu	Somatic	0	70	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W173L	ENST00000319555.3	37	c.518	CCDS32502.1	16	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530353	0.27387	.	.	ENSG00000179588	ENST00000319555	T	0.11495	2.77	4.43	4.43	0.53597	.	0.545840	0.18661	U	0.134709	T	0.21801	0.0525	M	0.65975	2.015	0.34181	D	0.670878	D	0.52996	0.957	P	0.50537	0.643	T	0.36915	-0.9728	10	0.87932	D	0	-12.8927	14.1851	0.65601	0.0:0.0:1.0:0.0	.	173	Q8IX07	FOG1_HUMAN	L	173	ENSP00000326630:W173L	ENSP00000326630:W173L	W	+	2	0	ZFPM1	87121953	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	2.991000	0.49409	2.025000	0.59659	0.313000	0.20887	TGG	-	NULL		0.642	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM1	protein_coding	OTTHUMT00000422270.2	G		-		88594452	1	no_errors	ENST00000319555	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88594452	G	T	88594452	3	4	4	1	0	0	0	0	1	0	0	0	17664	1357	47	3	540	3	ZFPM1	16	88594452	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		88594452	1760301	48	166											
PITPNM3	83394	genome.wustl.edu	37	chr17	6381307	6381307	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctgtacctgggtgctgctGatgctccccttccggctgct	13	14	0	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr17:6381307G>A	ENST00000262483.8	-	8	975	c.888C>T	c.(886-888)atC>atT	p.I296I	PITPNM3_ENST00000421306.3_Silent_p.I260I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	296	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGGTGCTGCTGATGCTCCCCT	0.682																																																	0								ENSG00000091622						73	81	78					17																	6381307		2203	4300	6503	PITPNM3	SO:0001819	synonymous_variant	0			-	HGNC	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.888C>T	17.37:g.6381307G>A		Somatic	0	79	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	82	15.31	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP							pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.I296	ENST00000262483.8	37	c.888	CCDS11076.1	17																																																																																			-	NULL		0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	protein_coding	OTTHUMT00000219824.2	G	NM_031220	-		6381307	-1	no_errors	ENST00000262483	ensembl	human	known	74_37	silent	SNP	1.000	A	A	6381307	G	A	6381307	2	1	4	1	0	0	0	0	0	0	0	1	11954	1280	45	2		2	PITPNM3	17	6381307	Silent	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		6381307	74813903	49	167											
KIF19	124602	genome.wustl.edu	37	chr17	72347018	72347018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattgcagccctggtggacGagcagaagcaactgcgcaag	14	11	0	1	rs143225781		TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr17:72347018G>A	ENST00000389916.4	+	12	1699	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	AC103809.2_ENST00000599136.1_Missense_Mutation_p.S98L	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	521					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCTGGTGGACGAGCAGAAGCA	0.617													G|||	1	0.000199681	0	0	5008	,	,		18179	0		0.001	False		,,,				2504	0																0								ENSG00000196169	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	106	107	107		1561	3.6	0.6	17	dbSNP_134	107	0,8600		0,0,4300	yes	missense	KIF19	NM_153209.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	521/999	72347018	1,13005	2203	4300	6503	KIF19	SO:0001583	missense	0			GMAF=0	HGNC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1561G>A	17.37:g.72347018G>A	ENSP00000374566:p.Glu521Lys	Somatic	0	64	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E521K	ENST00000389916.4	37	c.1561	CCDS32718.2	17	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.32	3.360760	0.61403	2.27E-4	0.0	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75589	-0.95;-0.69	5.62	3.62	0.41486	.	.	.	.	.	T	0.82075	0.4958	M	0.71206	2.165	0.46901	D	0.999242	D;D;D;D	0.76494	0.999;0.999;0.999;0.991	P;D;D;P	0.68621	0.866;0.959;0.909;0.79	T	0.79067	-0.1955	9	0.31617	T	0.26	.	10.4404	0.44462	0.074:0.135:0.791:0.0	.	521;479;479;521	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	K	479;521	ENSP00000449134:E479K;ENSP00000374566:E521K	ENSP00000374566:E521K	E	+	1	0	KIF19	69858613	1.000000	0.71417	0.645000	0.29479	0.015000	0.08874	4.563000	0.60823	0.730000	0.32425	0.650000	0.86243	GAG	-	NULL		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	G	NM_153209	rs143225781		72347018	1	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	SNP	0.991	A	A	72347018	G	A	72347018	3	1	4	1	0	0	0	0	1	0	0	0	8284	1059	37	1	1607	1	KIF19	17	72347018	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	65965711	72347018	8848192	50	168											
ARID3A	1820	genome.wustl.edu	37	chr19	929874	929874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caggagaggagcactttgagGacatggcctccgacgaggac	15	10	0	2			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr19:929874G>T	ENST00000263620.3	+	2	673	c.346G>T	c.(346-348)Gac>Tac	p.D116Y	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	116	Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		GCACTTTGAGGACATGGCCTC	0.667																																					Pancreas(29;54 1022 32760 50921)												0								ENSG00000116017						16	22	20					19																	929874		1940	3865	5805	ARID3A	SO:0001583	missense	0			-	HGNC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.346G>T	19.37:g.929874G>T	ENSP00000263620:p.Asp116Tyr	Somatic	0	57	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D116Y	ENST00000263620.3	37	c.346	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706456	0.48412	.	.	ENSG00000116017	ENST00000263620	T	0.09538	2.97	3.03	3.03	0.35002	.	7739.210000	0.00166	N	0.000000	T	0.14570	0.0352	L	0.29908	0.895	0.22127	N	0.999345	P	0.50943	0.94	P	0.44860	0.462	T	0.45220	-0.9276	10	0.87932	D	0	.	12.735	0.57218	0.0:0.0:1.0:0.0	.	116	Q99856	ARI3A_HUMAN	Y	116	ENSP00000263620:D116Y	ENSP00000263620:D116Y	D	+	1	0	ARID3A	880874	1.000000	0.71417	0.016000	0.15963	0.063000	0.16089	3.109000	0.50345	1.549000	0.49425	0.491000	0.48974	GAC	-	NULL		0.667	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	protein_coding	OTTHUMT00000458219.1	G	NM_005224	-		929874	1	no_errors	ENST00000263620	ensembl	human	known	74_37	missense	SNP	0.290	T	T	929874	G	T	929874	3	4	4	1	0	0	0	0	1	0	0	0	916	1174	41	3	348	3	ARID3A	19	929874	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		929874	58199109	51	169											
KDM4B	23030	genome.wustl.edu	37	chr19	5082456	5082456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcacgggttcaactgcGcagaatctaccaacttcgcc	7	14	4	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr19:5082456G>A	ENST00000159111.4	+	9	1077	c.859G>A	c.(859-861)Gca>Aca	p.A287T	KDM4B_ENST00000381759.4_Missense_Mutation_p.A287T|KDM4B_ENST00000536461.1_Missense_Mutation_p.A287T	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	287	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTTCAACTGCGCAGAATCTAC	0.587																																																	0								ENSG00000127663						70	62	64					19																	5082456		2202	4300	6502	KDM4B	SO:0001583	missense	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.859G>A	19.37:g.5082456G>A	ENSP00000159111:p.Ala287Thr	Somatic	1	113	0.88		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	100	18.70	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A287T	ENST00000159111.4	37	c.859	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805192	0.90623	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71579	-0.58;-0.58;-0.58	4.95	4.95	0.65309	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.86155	0.5865	M	0.90814	3.15	0.80722	D	1	D;D;D	0.71674	0.985;0.998;0.998	P;P;P	0.62885	0.673;0.904;0.908	D	0.89310	0.3632	10	0.66056	D	0.02	-20.4475	18.1627	0.89714	0.0:0.0:1.0:0.0	.	287;287;287	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	T	287	ENSP00000159111:A287T;ENSP00000371178:A287T;ENSP00000440495:A287T	ENSP00000159111:A287T	A	+	1	0	KDM4B	5033456	1.000000	0.71417	0.122000	0.21767	0.625000	0.37756	9.808000	0.99193	2.304000	0.77564	0.462000	0.41574	GCA	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.587	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	G	NM_015015	-		5082456	1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5082456	G	A	5082456	3	1	4	1	0	0	0	0	1	0	0	0	8131	1087	38	1	885	1	KDM4B	19	5082456	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09	4152582	5082456	54046527	52	170											
PGLYRP2	114770	genome.wustl.edu	37	chr19	15580569	15580569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccggcgcgcaccgcacaActcgggagcgtgtcgcgcac	15	16	0	0	rs375779333		TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr19:15580569A>G	ENST00000340880.4	-	4	1995	c.1515T>C	c.(1513-1515)agT>agC	p.S505S	PGLYRP2_ENST00000292609.4_Silent_p.S505S	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	505					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCACCGCACAACTCGGGAGCG	0.741																																																	0								ENSG00000161031						5	6	6					19																	15580569		1993	3934	5927	PGLYRP2	SO:0001819	synonymous_variant	0			-	HGNC	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1515T>C	19.37:g.15580569A>G		Somatic	0	11	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	8	43.75	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP							pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.S505	ENST00000340880.4	37	c.1515	CCDS12330.2	19																																																																																			-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain		0.741	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	protein_coding	OTTHUMT00000319626.1	A	NM_052890	-		15580569	-1	no_errors	ENST00000292609	ensembl	human	known	74_37	silent	SNP	0.283	G	G	15580569	A	G	15580569	2	3	4	1	0	0	0	0	0	0	0	1	11796	40	2	5		5	PGLYRP2	19	15580569	Silent	SNP	A	TCGA-3B-A9HO-01A-11D-A387-09	10498113	15580569	43548414	53	171											
ATP1A3	478	genome.wustl.edu	37	chr19	42482338	42482338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgacacttgcccaccgcgtCagggacggctgcccggggtg	16	15	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr19:42482338C>T	ENST00000302102.5	-	13	1921	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	ATP1A3_ENST00000545399.1_Missense_Mutation_p.D604N|ATP1A3_ENST00000543770.1_Missense_Mutation_p.D602N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.D561N	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	591					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCCACCGCGTCAGGGACGGCT	0.632																																																	0								ENSG00000105409						61	60	60					19																	42482338		2203	4300	6503	ATP1A3	SO:0001583	missense	0			-	HGNC		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1771G>A	19.37:g.42482338C>T	ENSP00000302397:p.Asp591Asn	Somatic	0	51	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	49	58.12	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.D591N	ENST00000302102.5	37	c.1771	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.061985	0.93846	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	L	0.55103	1.725	0.80722	D	1	B;P;P;P	0.52842	0.059;0.904;0.956;0.922	B;P;D;P	0.64687	0.044;0.78;0.928;0.86	D	0.87418	0.2380	10	0.72032	D	0.01	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	604;602;591;591	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	N	591;591;604;561;335;602	ENSP00000302397:D591N;ENSP00000411503:D591N;ENSP00000444688:D604N;ENSP00000437577:D602N	ENSP00000302397:D591N	D	-	1	0	ATP1A3	47174178	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GAC	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	protein_coding	OTTHUMT00000268107.1	C	NM_152296	-		42482338	-1	no_errors	ENST00000302102	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42482338	C	T	42482338	3	4	4	1	0	0	0	0	1	0	0	0	1130	826	29	2	1314	2	ATP1A3	19	42482338	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	26901769	42482338	16646645	54	172											
KRTAP6-1	337966	genome.wustl.edu	37	chr21	31986098	31986098	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagccacagcccagtctgcgGaagccacagccacagcagga	11	15	1	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr21:31986098G>A	ENST00000329122.2	-	1	151	c.126C>T	c.(124-126)ttC>ttT	p.F42F	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	42						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						CCAGTCTGCGGAAGCCACAGC	0.597																																																	0								ENSG00000184724						124	129	127					21																	31986098		2203	4300	6503	KRTAP6-1	SO:0001819	synonymous_variant	0			-	HGNC	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.126C>T	21.37:g.31986098G>A		Somatic	0	36	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	85	25.44		Silent	SNP							NULL	p.F42	ENST00000329122.2	37	c.126	CCDS13602.1	21																																																																																			-	NULL		0.597	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP6-1	protein_coding	OTTHUMT00000128240.2	G	NM_181602	-		31986098	-1	no_errors	ENST00000329122	ensembl	human	known	74_37	silent	SNP	0.000	A	A	31986098	G	A	31986098	2	1	4	1	0	0	0	0	0	0	0	1	8571	1165	41	2		2	KRTAP6-1	21	31986098	Silent	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		31986098	16143797	55	173											
TRPM2	7226	genome.wustl.edu	37	chr21	45821738	45821738	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctggtgcgagtgtgccatCtacctctggctcttctcctt	9	14	4	0			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr21:45821738C>G	ENST00000397928.1	+	16	2941	c.2496C>G	c.(2494-2496)atC>atG	p.I832M	TRPM2_ENST00000300482.5_Missense_Mutation_p.I832M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.I832M|TRPM2_ENST00000300481.9_Missense_Mutation_p.I812M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	832					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGTGTGCCATCTACCTCTGGC	0.622																																																	0								ENSG00000142185						366	307	327					21																	45821738		2203	4300	6503	TRPM2	SO:0001583	missense	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2496C>G	21.37:g.45821738C>G	ENSP00000381023:p.Ile832Met	Somatic	0	75	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	158	305	34.05	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP							pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.I832M	ENST00000397928.1	37	c.2496	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886397	0.51908	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.76	0.802	0.18686	Ion transport (1);	0.075655	0.53938	D	0.000049	T	0.67135	0.2861	M	0.69823	2.125	0.41332	D	0.987246	D;D;P	0.56746	0.977;0.96;0.922	P;P;P	0.61003	0.882;0.844;0.844	T	0.63853	-0.6543	10	0.66056	D	0.02	-16.2775	1.9927	0.03450	0.1387:0.4971:0.1346:0.2297	.	832;618;832	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	832;832;812;832	ENSP00000300482:I832M;ENSP00000381023:I832M;ENSP00000300481:I812M;ENSP00000381026:I832M	ENSP00000300481:I812M	I	+	3	3	TRPM2	44646166	0.960000	0.32886	0.356000	0.25785	0.823000	0.46562	0.031000	0.13710	-0.048000	0.13401	0.423000	0.28283	ATC	-	pfam_Ion_trans_dom		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	C	NM_003307	-		45821738	1	no_errors	ENST00000300482	ensembl	human	known	74_37	missense	SNP	0.999	G	G	45821738	C	G	45821738	3	3	4	1	0	0	0	0	1	0	0	0	16593	903	32	4	2558	4	TRPM2	21	45821738	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09	13835640	45821738	2308157	56	174											
GGT1	2678	genome.wustl.edu	37	chr22	25019094	25019094	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggggcattgtgacagctgagGacctgaacaactaccgtgct	13	10	0	3			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chr22:25019094G>C	ENST00000400382.1	+	10	1509	c.754G>C	c.(754-756)Gac>Cac	p.D252H	GGT1_ENST00000400380.1_Missense_Mutation_p.D252H|GGT1_ENST00000406383.2_Missense_Mutation_p.D252H|GGT1_ENST00000400383.1_Missense_Mutation_p.D252H|GGT1_ENST00000248923.4_Missense_Mutation_p.D252H|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	252					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GACAGCTGAGGACCTGAACAA	0.622																																																	0								ENSG00000100031						24	27	26					22																	25019094		1982	4173	6155	GGT1	SO:0001583	missense	0			-	HGNC	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.754G>C	22.37:g.25019094G>C	ENSP00000383232:p.Asp252His	Somatic	0	60	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	115	12.88	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP							pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.D252H	ENST00000400382.1	37	c.754	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	.	16.64	3.179027	0.57692	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	3.67	3.67	0.42095	.	0.000000	0.85682	U	0.000000	D	0.85978	0.5823	H	0.99535	4.615	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.92236	0.5796	10	0.87932	D	0	-46.2489	14.8316	0.70153	0.0:0.0:1.0:0.0	.	252	P19440	GGT1_HUMAN	H	252	ENSP00000248923:D252H;ENSP00000393537:D252H;ENSP00000383232:D252H;ENSP00000383233:D252H;ENSP00000383231:D252H;ENSP00000385975:D252H	ENSP00000248923:D252H	D	+	1	0	GGT1	23349094	1.000000	0.71417	0.990000	0.47175	0.222000	0.24845	9.149000	0.94659	1.779000	0.52309	0.549000	0.68633	GAC	-	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase		0.622	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	protein_coding	OTTHUMT00000250797.1	G	NM_013430	-		25019094	1	no_errors	ENST00000248923	ensembl	human	known	74_37	missense	SNP	1.000	C	C	25019094	G	C	25019094	3	2	4	1	0	0	0	0	1	0	0	0	6363	1174	41	4	776	4	GGT1	22	25019094	Missense_Mutation	SNP	G	TCGA-3B-A9HO-01A-11D-A387-09		25019094	26285472	57	175											
MAGEB18	286514	genome.wustl.edu	37	chrX	26158106	26158106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcacgttccagaaccaCgtctagcagcttctcccatg	7	14	2	1			TCGA-3B-A9HO-01A-11D-A387-09	TCGA-3B-A9HO-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90f9cecc-40c1-4294-b6d8-29c0874a1228	3d9eb4b8-91f4-43d2-aaea-3a72e603ca41	g.chrX:26158106C>T	ENST00000325250.1	+	2	1191	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	335	Interaction with LNX1.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TCCAGAACCACGTCTAGCAGC	0.502																																																	0								ENSG00000176774						42	24	30					X																	26158106		2201	4300	6501	MAGEB18	SO:0001583	missense	0			-	HGNC	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.1004C>T	X.37:g.26158106C>T	ENSP00000314543:p.Thr335Met	Somatic	0	19	0		0.597340878276466				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	11	66.67		Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T335M	ENST00000325250.1	37	c.1004	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	C	2.191	-0.385281	0.04966	.	.	ENSG00000176774	ENST00000325250	T	0.01918	4.56	3.67	-7.33	0.01431	.	3.081050	0.01017	N	0.003935	T	0.01254	0.0041	N	0.11313	0.125	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.42599	-0.9442	10	0.36615	T	0.2	.	2.0014	0.03468	0.1072:0.2796:0.2129:0.4004	.	335	Q96M61	MAGBI_HUMAN	M	335	ENSP00000314543:T335M	ENSP00000314543:T335M	T	+	2	0	MAGEB18	26068027	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.678000	0.00839	-2.726000	0.00386	-0.281000	0.10026	ACG	-	NULL		0.502	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	protein_coding	OTTHUMT00000056120.1	C	NM_173699	-		26158106	1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	SNP	0.000	T	T	26158106	C	T	26158106	3	4	4	1	0	0	0	0	1	0	0	0	9177	536	19	1	1006	1	MAGEB18	23	26158106	Missense_Mutation	SNP	C	TCGA-3B-A9HO-01A-11D-A387-09		26158106	129112454	58	176											
NOC2L	26155	genome.wustl.edu	37	chr1	892517	892517	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagtggaacggcccctcttCctcctcagagctgtccgagt	12	14	2	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:892517C>A	ENST00000327044.6	-	3	365	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	106	Poly-Glu.				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCCCCTCTTCCTCCTCAGAG	0.592																																																	0								ENSG00000188976						107	113	111					1																	892517		2203	4300	6503	NOC2L	SO:0001587	stop_gained	0			-	HGNC	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.316G>T	1.37:g.892517C>A	ENSP00000317992:p.Glu106*	Somatic	0	47	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q5SVA3|Q9BTN6	Nonsense_Mutation	SNP							pfam_Noc2,superfamily_ARM-type_fold	p.E106*	ENST00000327044.6	37	c.316	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589371	0.46214	.	.	ENSG00000188976	ENST00000327044	.	.	.	3.66	3.66	0.41972	.	0.190156	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.0413	0.47833	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000317992:E106X	E	-	1	0	NOC2L	882380	1.000000	0.71417	0.004000	0.12327	0.005000	0.04900	7.225000	0.78051	2.040000	0.60383	0.558000	0.71614	GAA	-	NULL		0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	protein_coding	OTTHUMT00000097869.1	C	NM_015658	-		892517	-1	no_errors	ENST00000327044	ensembl	human	known	74_37	nonsense	SNP	0.085	A	A	892517	C	A	892517	4	1	5	1	0	0	0	0	0	1	0	0	10515	864	30	3	2001	3	NOC2L	1	892517	Nonsense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		892517	248358104	1	177											
KIAA0754	643314	genome.wustl.edu	37	chr1	39877426	39877426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttctgaagggctggctGcatcccaggatgcagaaaat	11	10	2	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:39877426G>A	ENST00000530275.1	+	1	1276	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	361										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGCTGGCTGCATCCCAGGA	0.408																																																	0								ENSG00000255103						60	59	59					1																	39877426		1842	4092	5934	KIAA0754	SO:0001583	missense	0			-	HGNC			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1081G>A	1.37:g.39877426G>A	ENSP00000431179:p.Ala361Thr	Somatic	0	28	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	E9PMC2|Q6ZSB2	Missense_Mutation	SNP							NULL	p.A361T	ENST00000530275.1	37	c.1081		1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323907	0.24080	.	.	ENSG00000255103	ENST00000530275	D	0.85556	-2.0	5.14	0.492	0.16872	.	.	.	.	.	T	0.66790	0.2825	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.18561	0.022	T	0.57418	-0.7815	9	0.87932	D	0	.	2.9356	0.05814	0.1053:0.425:0.2458:0.2239	.	361	O94854	K0754_HUMAN	T	361	ENSP00000431179:A361T	ENSP00000431179:A361T	A	+	1	0	RP4-562N20.1	39650013	0.000000	0.05858	0.966000	0.40874	0.352000	0.29268	-0.168000	0.09925	0.177000	0.19895	-0.211000	0.12701	GCA	-	NULL		0.408	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	protein_coding	OTTHUMT00000392100.1	G	NM_015038	-		39877426	1	no_errors	ENST00000530275	ensembl	human	known	74_37	missense	SNP	0.062	A	A	39877426	G	A	39877426	3	1	5	1	0	0	0	0	1	0	0	0	8194	1319	46	2	1491	2	KIAA0754	1	39877426	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	38984909	39877426	209373195	2	178											
ZNF691	51058	genome.wustl.edu	37	chr1	43316717	43316717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagtggatgactcagagGgttcttggatcccacctggg	16	8	2	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:43316717G>A	ENST00000372506.1	+	4	428	c.88G>A	c.(88-90)Ggt>Agt	p.G30S	ZNF691_ENST00000372502.1_Missense_Mutation_p.G52S|ZNF691_ENST00000372504.1_Missense_Mutation_p.G52S|ZNF691_ENST00000372507.1_Missense_Mutation_p.G30S|ZNF691_ENST00000372508.3_Missense_Mutation_p.G30S|ZNF691_ENST00000397044.3_Missense_Mutation_p.G61S	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	61						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGACTCAGAGGGTTCTTGGAT	0.542																																																	0								ENSG00000164011						86	86	86					1																	43316717		2203	4300	6503	ZNF691	SO:0001583	missense	0			-	HGNC		CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.88G>A	1.37:g.43316717G>A	ENSP00000361584:p.Gly30Ser	Somatic	0	31	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	24	44.19	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G61S	ENST00000372506.1	37	c.181	CCDS476.1	1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540399	0.27563	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000397034;ENST00000372503;ENST00000372502	T;T;T;T;T;T;T	0.09163	3.09;3.09;3.09;3.01;3.06;4.57;3.06	4.89	2.99	0.34606	.	0.498297	0.18818	N	0.130308	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.001;0.003	T	0.31971	-0.9924	10	0.72032	D	0.01	-1.3132	5.692	0.17835	0.1777:0.1636:0.6587:0.0	.	61;61	B4DJR7;Q5VV52	.;ZN691_HUMAN	S	30;30;30;61;52;61;61;52	ENSP00000361586:G30S;ENSP00000361585:G30S;ENSP00000361584:G30S;ENSP00000380237:G61S;ENSP00000361582:G52S;ENSP00000380228:G61S;ENSP00000361580:G52S	ENSP00000361580:G52S	G	+	1	0	ZNF691	43089304	0.001000	0.12720	0.006000	0.13384	0.494000	0.33585	0.686000	0.25392	0.737000	0.32582	-0.176000	0.13171	GGT	-	NULL		0.542	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF691	protein_coding	OTTHUMT00000020192.1	G	NM_015911	-		43316717	1	no_errors	ENST00000397044	ensembl	human	known	74_37	missense	SNP	0.011	A	A	43316717	G	A	43316717	3	1	5	1	0	0	0	0	1	0	0	0	18103	1232	43	2	90	2	ZNF691	1	43316717	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	3439291	43316717	205933904	3	179											
SLC6A17	388662	genome.wustl.edu	37	chr1	110714757	110714757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctggagctggctgtggGtcagaggatccgccgcggca	16	12	1	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:110714757G>T	ENST00000331565.4	+	3	847	c.362G>T	c.(361-363)gGt>gTt	p.G121V	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	121					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGCTGTGGGTCAGAGGATC	0.622																																																	0								ENSG00000197106						69	50	57					1																	110714757		2203	4300	6503	SLC6A17	SO:0001583	missense	0			-	HGNC		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.362G>T	1.37:g.110714757G>T	ENSP00000330199:p.Gly121Val	Somatic	0	51	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.G121V	ENST00000331565.4	37	c.362	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854008	0.91355	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	D	0.97924	-4.61	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98029	1.0375	10	0.87932	D	0	.	18.6986	0.91611	0.0:0.0:1.0:0.0	.	121	Q9H1V8	S6A17_HUMAN	V	121	ENSP00000330199:G121V	ENSP00000330199:G121V	G	+	2	0	SLC6A17	110516280	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.869000	0.99810	2.404000	0.81709	0.585000	0.79938	GGT	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	protein_coding	OTTHUMT00000032550.2	G	XM_371280	-		110714757	1	no_errors	ENST00000331565	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110714757	G	T	110714757	3	4	5	1	0	0	0	0	1	0	0	0	14688	1261	44	3	368	3	SLC6A17	1	110714757	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	67398040	110714757	138535864	4	180											
SYT6	148281	genome.wustl.edu	37	chr1	114682311	114682311	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtgctccttgaccgacatCtgcacctcagctgggatatc	9	13	2	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:114682311C>A	ENST00000610222.1	-	2	584	c.438G>T	c.(436-438)caG>caT	p.Q146H	SYT6_ENST00000607941.1_Missense_Mutation_p.Q61H|SYT6_ENST00000393296.1_Missense_Mutation_p.Q146H|SYT6_ENST00000369547.1_Missense_Mutation_p.Q61H|SYT6_ENST00000609117.1_Missense_Mutation_p.Q61H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	146					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		TGACCGACATCTGCACCTCAG	0.617																																																	0								ENSG00000134207						109	87	95					1																	114682311		2203	4300	6503	SYT6	SO:0001583	missense	0			-	HGNC		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.438G>T	1.37:g.114682311C>A	ENSP00000476396:p.Gln146His	Somatic	0	36	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B1AMB8|B3KPK1	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.Q146H	ENST00000610222.1	37	c.438		1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854725	0.71719	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.61627	0.16;0.09;0.16;0.09;1.09;0.37	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	M	0.64260	1.97	0.80722	D	1	B	0.32409	0.37	B	0.37387	0.248	T	0.57774	-0.7753	10	0.72032	D	0.01	.	14.22	0.65820	0.0:0.9288:0.0:0.0712	.	146	Q5T7P8	SYT6_HUMAN	H	61;146;61;146;61;61	ENSP00000358560:Q61H;ENSP00000376974:Q146H;ENSP00000358559:Q61H;ENSP00000358558:Q146H;ENSP00000412443:Q61H;ENSP00000389266:Q61H	ENSP00000358558:Q146H	Q	-	3	2	SYT6	114483834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.740000	0.47418	2.732000	0.93576	0.655000	0.94253	CAG	-	NULL		0.617	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	protein_coding	OTTHUMT00000314819.2	C	NM_205848	-		114682311	-1	no_errors	ENST00000393296	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114682311	C	A	114682311	3	1	5	1	0	0	0	0	1	0	0	0	15485	912	32	3	1118	3	SYT6	1	114682311	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	3967554	114682311	134568310	5	181											
LCE2C	353140	genome.wustl.edu	37	chr1	152648741	152648741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgtctcttccaccggCgccggcaccagagccccgac	11	21	1	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:152648741C>T	ENST00000368783.1	+	2	305	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	84	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCACCGGCGCCGGCACCA	0.682																																																	0								ENSG00000187180						35	44	41					1																	152648741		2201	4297	6498	LCE2C	SO:0001583	missense	0			-	HGNC		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.250C>T	1.37:g.152648741C>T	ENSP00000357772:p.Arg84Cys	Somatic	0	114	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	115	26.28		Missense_Mutation	SNP							NULL	p.R84C	ENST00000368783.1	37	c.250	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602896	0.28534	.	.	ENSG00000187180	ENST00000368783	T	0.03745	3.82	3.15	-0.182	0.13287	.	.	.	.	.	T	0.00666	0.0022	N	0.11131	0.1	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47623	-0.9103	9	0.87932	D	0	.	3.3006	0.06982	0.0:0.5059:0.219:0.2751	.	84	Q5TA81	LCE2C_HUMAN	C	84	ENSP00000357772:R84C	ENSP00000357772:R84C	R	+	1	0	LCE2C	150915365	0.000000	0.05858	0.000000	0.03702	0.818000	0.46254	-0.668000	0.05268	-0.145000	0.11294	0.563000	0.77884	CGC	-	NULL		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	protein_coding	OTTHUMT00000034509.1	C	NM_178429	-		152648741	1	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152648741	C	T	152648741	3	4	5	1	0	0	0	0	1	0	0	0	8669	768	27	1	252	1	LCE2C	1	152648741	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	37966430	152648741	96601880	6	182											
RABGAP1L	9910	genome.wustl.edu	37	chr1	174200309	174200309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctacacccagaccatcttctCcaggtggactacctgaagaa	7	14	2	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:174200309C>A	ENST00000251507.4	+	4	532	c.358C>A	c.(358-360)Cca>Aca	p.P120T	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.P83T	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACCATCTTCTCCAGGTGGACT	0.378																																																	0								ENSG00000152061						60	61	60					1																	174200309		2203	4300	6503	RABGAP1L	SO:0001583	missense	0			-	HGNC	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.358C>A	1.37:g.174200309C>A	ENSP00000251507:p.Pro120Thr	Somatic	0	21	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	B7ZAA4	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.P120T	ENST00000251507.4	37	c.358	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259951	0.80246	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.46819	0.86;3.5;0.92	5.59	5.59	0.84812	.	0.179677	0.49305	D	0.000150	T	0.48642	0.1511	L	0.47716	1.5	0.80722	D	1	P;P;P	0.50617	0.937;0.63;0.822	B;B;B	0.43916	0.421;0.434;0.436	T	0.47649	-0.9101	10	0.45353	T	0.12	.	19.5944	0.95530	0.0:1.0:0.0:0.0	.	120;120;83	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	T	83;120;120;120	ENSP00000350027:P83T;ENSP00000251507:P120T;ENSP00000403136:P120T	ENSP00000251507:P120T	P	+	1	0	RABGAP1L	172466932	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.141000	0.64814	2.627000	0.88993	0.563000	0.77884	CCA	-	NULL		0.378	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	protein_coding	OTTHUMT00000084497.1	C	NM_001243765	-		174200309	1	no_errors	ENST00000251507	ensembl	human	known	74_37	missense	SNP	1.000	A	A	174200309	C	A	174200309	3	1	5	1	0	0	0	0	1	0	0	0	12973	855	30	3	368	3	RABGAP1L	1	174200309	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	21551568	174200309	75050312	7	183											
RYR2	6262	genome.wustl.edu	37	chr1	237947932	237947932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttttcagaggctttttccGcatcatttgcagcctgctgc	9	12	2	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr1:237947932G>A	ENST00000366574.2	+	90	13237	c.12920G>A	c.(12919-12921)cGc>cAc	p.R4307H	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H|RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4307					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4305L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTTTCCGCATCATTTGC	0.502																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000198626						78	76	77					1																	237947932		1918	4126	6044	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12920G>A	1.37:g.237947932G>A	ENSP00000355533:p.Arg4307His	Somatic	0	28	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R4313H	ENST00000366574.2	37	c.12938	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	2.223	-0.377914	0.05000	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96554	-0.29;-4.05;-0.29	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	D	0.91064	0.7188	L	0.38175	1.15	0.22851	N	0.99865	B;B	0.27316	0.022;0.175	B;B	0.12156	0.006;0.007	T	0.78788	-0.2067	10	0.16420	T	0.52	-11.0906	8.1681	0.31239	0.0786:0.0:0.7635:0.1579	.	1281;4307	B4DGV4;Q92736	.;RYR2_HUMAN	H	4307;4313;4291;1281	ENSP00000355533:R4307H;ENSP00000353174:R4313H;ENSP00000443798:R4291H	ENSP00000353174:R4313H	R	+	2	0	RYR2	236014555	1.000000	0.71417	0.643000	0.29450	0.474000	0.32979	3.788000	0.55446	2.657000	0.90304	0.655000	0.94253	CGC	-	NULL		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237947932	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	0.017	A	A	237947932	G	A	237947932	3	1	5	1	0	0	0	0	1	0	0	0	13777	1087	38	1	13278	1	RYR2	1	237947932	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	63747623	237947932	11302689	8	184											
GPR113	165082	genome.wustl.edu	37	chr2	26539786	26539786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaagtggtacctgttgTgagtctgaggccagtgagaa	14	8	1	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr2:26539786T>C	ENST00000311519.1	-	4	495	c.496A>G	c.(496-498)Aca>Gca	p.T166A	GPR113_ENST00000333478.6_Missense_Mutation_p.T107A|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Missense_Mutation_p.T97A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	166					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACCTGTTGTGAGTCTGAGG	0.597																																																	0								ENSG00000173567						63	60	61					2																	26539786		2203	4300	6503	GPR113	SO:0001583	missense	0			-	HGNC	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.496A>G	2.37:g.26539786T>C	ENSP00000307831:p.Thr166Ala	Somatic	0	39	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	24	44.19	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T107A	ENST00000311519.1	37	c.319	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647299	0.67358	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519	T;T;T	0.56611	1.1;0.51;0.45	4.58	4.58	0.56647	.	.	.	.	.	T	0.65186	0.2667	L	0.55990	1.75	0.50813	D	0.999895	D;P;D	0.76494	0.999;0.95;0.999	D;P;D	0.76071	0.987;0.59;0.987	T	0.67597	-0.5630	9	0.72032	D	0.01	55.3733	10.3659	0.44024	0.0:0.0:0.0:1.0	.	97;107;166	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	A	107;97;166	ENSP00000327396:T107A;ENSP00000388537:T97A;ENSP00000307831:T166A	ENSP00000307831:T166A	T	-	1	0	GPR113	26393290	0.997000	0.39634	0.022000	0.16811	0.957000	0.61999	1.590000	0.36654	1.714000	0.51371	0.402000	0.26972	ACA	-	NULL		0.597	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	protein_coding	OTTHUMT00000316892.1	T	NM_153835	-		26539786	-1	no_errors	ENST00000333478	ensembl	human	known	74_37	missense	SNP	0.295	C	C	26539786	T	C	26539786	3	2	5	1	0	0	0	0	1	0	0	0	6632	1696	59	5	2872	5	GPR113	2	26539786	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09		26539786	216659587	9	185											
SCN1A	6323	genome.wustl.edu	37	chr2	166866229	166866229	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttctttcatttttcttacCctcatcccttcaaatcgaga	4	12	5	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr2:166866229C>G	ENST00000303395.4	-	20	4001	c.4002G>C	c.(4000-4002)agG>agC	p.R1334S	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Splice_Site_p.R1323S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Splice_Site_p.R1334S|SCN1A_ENST00000409050.1_Splice_Site_p.R1306S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1334					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)	TTTTTCTTACCCTCATCCCTT	0.363																																																	0								ENSG00000144285						69	70	70					2																	166866229		2203	4299	6502	SCN1A	SO:0001630	splice_region_variant	0			-	HGNC	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.4002+1G>C	2.37:g.166866229C>G		Somatic	0	53	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.R1334S	ENST00000303395.4	37	c.4002	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975537	0.92919	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.46	5.46	0.80206	Ion transport (1);	0.074170	0.64402	D	0.000020	D	0.99429	0.9798	H	0.94808	3.585	0.80722	D	1	D;D;D	0.76494	0.983;0.999;0.999	P;D;D	0.85130	0.79;0.997;0.988	D	0.98574	1.0647	9	.	.	.	.	19.3188	0.94229	0.0:1.0:0.0:0.0	.	1323;1306;1334	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	1334;1334;1323;1306	ENSP00000407030:R1334S;ENSP00000303540:R1334S;ENSP00000364554:R1323S;ENSP00000386312:R1306S	.	R	-	3	2	SCN1A	166574475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.569000	0.86673	0.650000	0.86243	AGG	-	pfam_Ion_trans_dom		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920	-	Missense_Mutation	166866229	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	SNP	1.000	G	G	166866229	C	G	166866229	5	3	5	1	0	0	0	0	0	0	1	0	13922	637	22	4	2055	4	SCN1A	2	166866229	Splice_Site	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	140326443	166866229	76333144	10	186											
ITGA6	3655	genome.wustl.edu	37	chr2	173340339	173340339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacagatattgcagttggaGctccgtatgatgacttggga	12	7	0	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr2:173340339G>T	ENST00000264106.6	+	9	1515	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S	ITGA6_ENST00000343713.4_Missense_Mutation_p.A394S|ITGA6_ENST00000375221.2_Missense_Mutation_p.A438S|ITGA6_ENST00000409532.1_Missense_Mutation_p.A280S|ITGA6_ENST00000409080.1_Missense_Mutation_p.A399S|ITGA6_ENST00000264107.7_Missense_Mutation_p.A399S			P23229	ITA6_HUMAN	integrin, alpha 6	438					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGCAGTTGGAGCTCCGTATGA	0.348																																																	0								ENSG00000091409						156	161	159					2																	173340339		2203	4300	6503	ITGA6	SO:0001583	missense	0			-	HGNC		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1312G>T	2.37:g.173340339G>T	ENSP00000264106:p.Ala438Ser	Somatic	0	34	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.00	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A438S	ENST00000264106.6	37	c.1312		2	.	.	.	.	.	.	.	.	.	.	G	34	5.354759	0.95854	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	M	0.81239	2.535	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;0.996;0.996;0.996	D	0.88655	0.3185	10	0.87932	D	0	.	19.586	0.95490	0.0:0.0:1.0:0.0	.	394;438;399;399	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	S	280;399;438;438;394;399;438;394	ENSP00000386614:A280S;ENSP00000264107:A399S;ENSP00000264106:A438S;ENSP00000364369:A438S;ENSP00000341078:A394S;ENSP00000386896:A399S;ENSP00000406694:A438S;ENSP00000394169:A394S	ENSP00000264106:A438S	A	+	1	0	ITGA6	173048585	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.865000	0.99609	2.627000	0.88993	0.644000	0.83932	GCT	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.348	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	protein_coding		G		-		173340339	1	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	SNP	1.000	T	T	173340339	G	T	173340339	3	4	5	1	0	0	0	0	1	0	0	0	7882	971	34	3	1225	3	ITGA6	2	173340339	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	6474110	173340339	69859034	11	187											
GPR156	165829	genome.wustl.edu	37	chr3	119886364	119886364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaagaaggtcttcgtaCtctggaatcagtagtttgtg	12	7	3	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr3:119886364C>T	ENST00000464295.1	-	10	2405	c.1960G>A	c.(1960-1962)Gta>Ata	p.V654I	GPR156_ENST00000315843.3_Missense_Mutation_p.V654I|GPR156_ENST00000461057.1_Missense_Mutation_p.V650I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	654						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGTCTTCGTACTCTGGAATCA	0.577																																																	0								ENSG00000175697						59	58	58					3																	119886364		2203	4300	6503	GPR156	SO:0001583	missense	0			-	HGNC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1960G>A	3.37:g.119886364C>T	ENSP00000417261:p.Val654Ile	Somatic	0	40	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.V654I	ENST00000464295.1	37	c.1960	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	0.798	-0.756580	0.03019	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.24723	1.84;1.84;1.84	5.18	-0.782	0.10961	.	1.717380	0.03184	N	0.172447	T	0.22166	0.0534	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27571	-1.0070	9	.	.	.	5.6454	10.3124	0.43716	0.0:0.5291:0.0:0.4709	.	650;654	E9PFZ4;Q8NFN8	.;GP156_HUMAN	I	654;654;650	ENSP00000417261:V654I;ENSP00000324553:V654I;ENSP00000418758:V650I	.	V	-	1	0	GPR156	121369054	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.202000	0.17295	-0.639000	0.05502	-1.119000	0.02030	GTA	-	NULL		0.577	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	protein_coding	OTTHUMT00000355139.1	C	NM_153002	-		119886364	-1	no_errors	ENST00000315843	ensembl	human	known	74_37	missense	SNP	0.000	T	T	119886364	C	T	119886364	3	4	5	1	0	0	0	0	1	0	0	0	6663	565	20	2	488	2	GPR156	3	119886364	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		119886364	78136066	12	188											
CCDC14	64770	genome.wustl.edu	37	chr3	123650246	123650246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatatactactaaattttttGttttcatctttctgattttc	2	6	3	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr3:123650246G>T	ENST00000488653.2	-	11	1788	c.1698C>A	c.(1696-1698)aaC>aaA	p.N566K	CCDC14_ENST00000485727.1_Missense_Mutation_p.N366K|CCDC14_ENST00000433542.2_Missense_Mutation_p.N525K|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.N366K|CCDC14_ENST00000310351.4_Missense_Mutation_p.N406K			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	566					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TAAATTTTTTGTTTTCATCTT	0.284																																																	0								ENSG00000175455						36	33	34					3																	123650246		2179	4251	6430	CCDC14	SO:0001583	missense	0			-	HGNC	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1698C>A	3.37:g.123650246G>T	ENSP00000420180:p.Asn566Lys	Somatic	0	39	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP							NULL	p.N566K	ENST00000488653.2	37	c.1698		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.811200|2.811200	0.50527|0.50527	.|.	.|.	ENSG00000175455|ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247|ENST00000479903	T;T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78;0.78|.	4.92|4.92	4.05|4.05	0.47172|0.47172	.|.	0.272209|.	0.35495|.	N|.	0.003165|.	T|T	0.54303|0.54303	0.1850|0.1850	L|L	0.56769|0.56769	1.78|1.78	0.33373|0.33373	D|D	0.573872|0.573872	D;D;D;D|.	0.71674|.	0.998;0.998;0.998;0.998|.	D;D;D;D|.	0.66979|.	0.948;0.948;0.929;0.929|.	T|T	0.63812|0.63812	-0.6552|-0.6552	10|5	0.18710|.	T|.	0.47|.	.|.	7.7522|7.7522	0.28904|0.28904	0.2629:0.0:0.7371:0.0|0.2629:0.0:0.7371:0.0	.|.	566;525;366;407|.	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5|.	CCD14_HUMAN;.;.;.|.	K|K	566;406;366;366;525;547;207|148	ENSP00000420180:N566K;ENSP00000312031:N406K;ENSP00000418002:N366K;ENSP00000418403:N366K;ENSP00000395706:N525K;ENSP00000386866:N547K;ENSP00000400957:N207K|.	ENSP00000312031:N406K|.	N|T	-|-	3|2	2|0	CCDC14|CCDC14	125132936|125132936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	1.391000|1.391000	0.34475|0.34475	1.307000|1.307000	0.44944|0.44944	0.557000|0.557000	0.71058|0.71058	AAC|ACA	-	NULL		0.284	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	protein_coding		G	NM_022757	-		123650246	-1	no_errors	ENST00000488653	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123650246	G	T	123650246	3	4	5	1	0	0	0	0	1	0	0	0	2775	1368	48	3	1175	3	CCDC14	3	123650246	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	3763882	123650246	74372184	13	189											
TM4SF18	116441	genome.wustl.edu	37	chr3	149051132	149051132	+	Frame_Shift_Del	DEL	A	A	-													aaagtgcaagcggaatcagcAaacaacttaggcagcctcca							TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr3:149051132delA	ENST00000296059.2	-	2	303	c.38delT	c.(37-39)ttgfs	p.L14fs	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Frame_Shift_Del_p.L14fs	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	14						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGGAATCAGCAAACAACTTAG	0.433																																																	0								ENSG00000163762						61	59	60					3																	149051132		2203	4300	6503	TM4SF18	SO:0001589	frameshift_variant	0				HGNC	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.38delT	3.37:g.149051132delA	ENSP00000296059:p.Leu14fs	Somatic	0	34	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	B2R8K0|D3DNH5	Frame_Shift_Del	DEL							pfam_L6_membrane	p.L13fs	ENST00000296059.2	37	c.38	CCDS3142.1	3																																																																																			-	pfam_L6_membrane		0.433	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF18	protein_coding	OTTHUMT00000356326.1	A	NM_138786			149051132	-1	no_errors	ENST00000296059	ensembl	human	known	74_37	frame_shift_del	DEL	0.992	-	-	149051132	A	-	149051132	7	5	5	1	0	1	0	1	0	0	0	0	15974	131	5	0	587	0	TM4SF18	3	149051132	Frame_Shift_Del	DEL	A	TCGA-3B-A9HP-01A-11D-A387-09	25400886	149051132	48971298	14	190											
LAMP3	27074	genome.wustl.edu	37	chr3	182841970	182841970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggccccaatcacaggaaGcacaattgtgtagtcagacg	11	10	2	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr3:182841970G>T	ENST00000265598.3	-	6	1405	c.1150C>A	c.(1150-1152)Ctt>Att	p.L384I	LAMP3_ENST00000466939.1_Missense_Mutation_p.L360I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	384					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			ATCACAGGAAGCACAATTGTG	0.458																																																	0								ENSG00000078081						133	121	125					3																	182841970		2203	4300	6503	LAMP3	SO:0001583	missense	0			-	HGNC	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1150C>A	3.37:g.182841970G>T	ENSP00000265598:p.Leu384Ile	Somatic	0	49	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP							pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.L384I	ENST00000265598.3	37	c.1150	CCDS3242.1	3	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714061	0.30413	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.27256	1.68;1.68	6.06	5.11	0.69529	.	0.130592	0.34067	N	0.004281	T	0.13841	0.0335	N	0.16037	0.36	0.33720	D	0.616859	B	0.10296	0.003	B	0.17722	0.019	T	0.16897	-1.0387	10	0.11794	T	0.64	-12.1799	10.8581	0.46810	0.0:0.0:0.7701:0.2299	.	384	Q9UQV4	LAMP3_HUMAN	I	384;360	ENSP00000265598:L384I;ENSP00000418912:L360I	ENSP00000265598:L384I	L	-	1	0	LAMP3	184324664	0.956000	0.32656	0.999000	0.59377	0.988000	0.76386	0.844000	0.27654	2.882000	0.98803	0.655000	0.94253	CTT	-	pfam_Lysosome-assoc_membr_glycop		0.458	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	protein_coding	OTTHUMT00000350863.1	G		-		182841970	-1	no_errors	ENST00000265598	ensembl	human	known	74_37	missense	SNP	0.997	T	T	182841970	G	T	182841970	3	4	5	1	0	0	0	0	1	0	0	0	8621	971	34	3	104	3	LAMP3	3	182841970	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	33790838	182841970	15180460	15	191											
CORIN	10699	genome.wustl.edu	37	chr4	47809025	47809025	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcgccagcttctgagAgcagccattgcccatgttat	10	12	1	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr4:47809025A>C	ENST00000273857.4	-	2	102	c.103T>G	c.(103-105)Tct>Gct	p.S35A	CORIN_ENST00000504584.1_Missense_Mutation_p.S35A|CORIN_ENST00000502252.1_Missense_Mutation_p.S35A|CORIN_ENST00000505909.1_Missense_Mutation_p.S35A	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	35					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						AGCTTCTGAGAGCAGCCATTG	0.433																																																	0								ENSG00000145244						106	88	94					4																	47809025		2203	4300	6503	CORIN	SO:0001583	missense	0			-	HGNC	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.103T>G	4.37:g.47809025A>C	ENSP00000273857:p.Ser35Ala	Somatic	0	51	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	41	36.92	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP							pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.S35A	ENST00000273857.4	37	c.103	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	A	6.791	0.514858	0.12944	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.93953	-2.7;-3.04;-2.67;-3.32	4.95	-0.211	0.13172	.	0.183649	0.38005	N	0.001846	D	0.85869	0.5797	L	0.32530	0.975	0.25018	N	0.991359	B;B;B	0.28055	0.003;0.0;0.199	B;B;B	0.27380	0.004;0.003;0.079	T	0.75679	-0.3234	10	0.46703	T	0.11	.	5.8168	0.18497	0.5707:0.2829:0.1464:0.0	.	35;35;35	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	A	35	ENSP00000273857:S35A;ENSP00000424212:S35A;ENSP00000425401:S35A;ENSP00000423216:S35A	ENSP00000273857:S35A	S	-	1	0	CORIN	47503782	1.000000	0.71417	0.106000	0.21319	0.027000	0.11550	2.030000	0.41108	-0.168000	0.10853	-0.256000	0.11100	TCT	-	pirsf_Peptidase_S1A_corin		0.433	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	protein_coding	OTTHUMT00000216906.2	A		-		47809025	-1	no_errors	ENST00000273857	ensembl	human	known	74_37	missense	SNP	0.982	C	C	47809025	A	C	47809025	3	2	5	1	0	0	0	0	1	0	0	0	3754	304	11	5	3109	5	CORIN	4	47809025	Missense_Mutation	SNP	A	TCGA-3B-A9HP-01A-11D-A387-09		47809025	143345251	16	192											
PET112L	5188	genome.wustl.edu	37	chr4	152600965	152600965	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgggagtgtggacatacCtgtttagctgctgatgaaga	14	6	0	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr4:152600965C>T	ENST00000515812.1	-	10	1303	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	RP11-164P12.3_ENST00000514269.1_RNA|PET112_ENST00000507592.1_5'UTR|PET112_ENST00000263985.6_Splice_Site_p.Q470Q																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GTGGACATACCTGTTTAGCTG	0.493																																																	0								ENSG00000059691						205	200	202					4																	152600965		2203	4300	6503	PET112	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000515812.1:c.1287+1G>A	4.37:g.152600965C>T		Somatic	0	36	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33		Silent	SNP							pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.Q470	ENST00000515812.1	37	c.1410		4																																																																																			-	pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu		0.493	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	protein_coding	OTTHUMT00000365672.1	C		-	Silent	152600965	-1	no_errors	ENST00000263985	ensembl	human	known	74_37	silent	SNP	1.000	T	T	152600965	C	T	152600965	5	4	5	1	0	0	0	0	0	0	1	0	11736	695	24	2	275	2	PET112L	4	152600965	Splice_Site	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	104791940	152600965	38553311	17	193											
NPY2R	4887	genome.wustl.edu	37	chr4	156135160	156135160	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggtggaacaatacggGccacaaacaactcctagagg	11	9	0	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr4:156135160G>T	ENST00000329476.3	+	2	558	c.69G>T	c.(67-69)ggG>ggT	p.G23G	NPY2R_ENST00000506608.1_Silent_p.G23G	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	23					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	AACAATACGGGCCACAAACAA	0.488																																																	0								ENSG00000185149						167	154	159					4																	156135160		2203	4300	6503	NPY2R	SO:0001819	synonymous_variant	0			-	HGNC	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.69G>T	4.37:g.156135160G>T		Somatic	0	33	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.G23	ENST00000329476.3	37	c.69	CCDS3791.1	4																																																																																			-	NULL		0.488	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	protein_coding	OTTHUMT00000365128.1	G	NM_000910	-		156135160	1	no_errors	ENST00000329476	ensembl	human	known	74_37	silent	SNP	0.000	T	T	156135160	G	T	156135160	2	4	5	1	0	0	0	0	0	0	0	1	10611	1190	42	3		3	NPY2R	4	156135160	Silent	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	3534195	156135160	35019116	18	194											
SLC4A9	83697	genome.wustl.edu	37	chr5	139741642	139741642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagctacctccaggagctgAggcagggactgtgctggcag	16	10	0	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr5:139741642A>C	ENST00000230993.6	+	5	709	c.674A>C	c.(673-675)gAg>gCg	p.E225A	SLC4A9_ENST00000432095.2_Missense_Mutation_p.E201A|SLC4A9_ENST00000507527.1_Missense_Mutation_p.E225A|SLC4A9_ENST00000506757.2_Missense_Mutation_p.E201A|SLC4A9_ENST00000506545.1_Missense_Mutation_p.E201A	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	225					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAGCTGAGGCAGGGACT	0.567																																																	0								ENSG00000113073						31	33	32					5																	139741642		1935	4126	6061	SLC4A9	SO:0001583	missense	0			-	HGNC	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.674A>C	5.37:g.139741642A>C	ENSP00000230993:p.Glu225Ala	Somatic	0	47	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E225A	ENST00000230993.6	37	c.674	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706278	0.89018	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	4.9	4.9	0.64082	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.64402	D	0.000002	D	0.92577	0.7642	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	D	0.94200	0.7449	10	0.87932	D	0	.	14.6822	0.69026	1.0:0.0:0.0:0.0	.	201;225;201;201	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	A	225;201;201;201;225	ENSP00000230993:E225A;ENSP00000424424:E201A;ENSP00000410056:E201A;ENSP00000422855:E201A;ENSP00000427661:E225A	ENSP00000230993:E225A	E	+	2	0	SLC4A9	139721826	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	8.827000	0.92041	2.063000	0.61619	0.533000	0.62120	GAG	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.567	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	A	NM_031467	-		139741642	1	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	SNP	1.000	C	C	139741642	A	C	139741642	3	2	5	1	0	0	0	0	1	0	0	0	14668	304	11	5	620	5	SLC4A9	5	139741642	Missense_Mutation	SNP	A	TCGA-3B-A9HP-01A-11D-A387-09		139741642	41173618	19	195											
TAAR6	319100	genome.wustl.edu	37	chr6	132891510	132891510	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagctgtgctacgcgaAcgtgaatgggtcctgtgtga	15	8	0	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr6:132891510A>T	ENST00000275198.1	+	1	50	c.50A>T	c.(49-51)aAc>aTc	p.N17I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	17					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGCTACGCGAACGTGAATGGG	0.488																																																	0								ENSG00000146383						119	112	115					6																	132891510		2203	4300	6503	TAAR6	SO:0001583	missense	0			-	HGNC	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.50A>T	6.37:g.132891510A>T	ENSP00000275198:p.Asn17Ile	Somatic	0	58	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	62	10.14	Q5VUQ4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.N17I	ENST00000275198.1	37	c.50	CCDS5155.1	6	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823476	0.32237	.	.	ENSG00000146383	ENST00000275198	T	0.62498	0.02	4.99	3.8	0.43715	.	0.392376	0.20710	U	0.087101	T	0.44973	0.1319	M	0.77616	2.38	0.09310	N	1	B	0.23249	0.082	B	0.32677	0.15	T	0.43523	-0.9386	10	0.22109	T	0.4	-2.2376	10.3884	0.44154	0.5416:0.4584:0.0:0.0	.	17	Q96RI8	TAAR6_HUMAN	I	17	ENSP00000275198:N17I	ENSP00000275198:N17I	N	+	2	0	TAAR6	132933203	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.838000	0.27572	0.881000	0.35993	0.460000	0.39030	AAC	-	NULL		0.488	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR6	protein_coding	OTTHUMT00000042255.1	A	NM_175067	-		132891510	1	no_errors	ENST00000275198	ensembl	human	known	74_37	missense	SNP	0.004	T	T	132891510	A	T	132891510	3	4	5	1	0	0	0	0	1	0	0	0	15499	43	2	5	52	5	TAAR6	6	132891510	Missense_Mutation	SNP	A	TCGA-3B-A9HP-01A-11D-A387-09		132891510	38223557	20	196											
MUC17	140453	genome.wustl.edu	37	chr7	100677255	100677255	+	Frame_Shift_Del	DEL	C	C	-													tcctacacctgctgaaggtaCcagcatgccaacctcaactt					rs140905069		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr7:100677255delC	ENST00000306151.4	+	3	2622	c.2558delC	c.(2557-2559)accfs	p.T853fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	853	59 X approximate tandem repeats.|Ser-rich.				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)	p.T853N(1)		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)					GCTGAAGGTACCAGCATGCCA	0.488																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000169876						290	282	285					7																	100677255		2203	4298	6501	MUC17	SO:0001589	frameshift_variant	0				HGNC	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.2558delC	7.37:g.100677255delC	ENSP00000302716:p.Thr853fs	Somatic	0	54	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	56	37.78	O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S854fs	ENST00000306151.4	37	c.2558	CCDS34711.1	7																																																																																			-	NULL		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105			100677255	1	no_errors	ENST00000306151	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	100677255	C	-	100677255	7	5	5	1	0	1	0	1	0	0	0	0	9976	507	18	0	2568	0	MUC17	7	100677255	Frame_Shift_Del	DEL	C	TCGA-3B-A9HP-01A-11D-A387-09		100677255	58461408	21	197											
KIAA1147	57189	genome.wustl.edu	37	chr7	141385377	141385377	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgccacgttccagctcgCtctccacgggcatgttggca	12	16	1	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr7:141385377C>G	ENST00000536163.1	-	3	427	c.428G>C	c.(427-429)aGc>aCc	p.S143T	KIAA1147_ENST00000482493.1_Missense_Mutation_p.S52T	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	143										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TTCCAGCTCGCTCTCCACGGG	0.557																																																	0								ENSG00000257093						95	99	98					7																	141385377		2095	4208	6303	KIAA1147	SO:0001583	missense	0			-	HGNC	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.428G>C	7.37:g.141385377C>G	ENSP00000445768:p.Ser143Thr	Somatic	0	37	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	Q9ULS3	Missense_Mutation	SNP							pfam_DUF2347	p.S143T	ENST00000536163.1	37	c.428	CCDS47726.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326232	0.81580	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.73598	2.24	0.58432	D	0.999999	P	0.43578	0.811	B	0.44315	0.446	T	0.72388	-0.4309	9	0.45353	T	0.12	-26.4451	17.3898	0.87427	0.0:1.0:0.0:0.0	.	143	A4D1U4	LCHN_HUMAN	T	143;52	.	ENSP00000297761:S143T	S	-	2	0	KIAA1147	141031846	1.000000	0.71417	0.979000	0.43373	0.901000	0.52897	6.610000	0.74178	2.329000	0.79093	0.591000	0.81541	AGC	-	pfam_DUF2347		0.557	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	protein_coding	OTTHUMT00000349104.1	C		-		141385377	-1	no_errors	ENST00000536163	ensembl	human	known	74_37	missense	SNP	1.000	G	G	141385377	C	G	141385377	3	3	5	1	0	0	0	0	1	0	0	0	8212	797	28	4	967	4	KIAA1147	7	141385377	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	40708122	141385377	17753286	22	198											
TJP2	9414	genome.wustl.edu	37	chr9	71867755	71867755	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattgcccagaagcatcctGatatctatgcagttccaatc	6	11	1	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr9:71867755G>A	ENST00000377245.4	+	22	3554	c.3346G>A	c.(3346-3348)Gat>Aat	p.D1116N	TJP2_ENST00000535702.1_Missense_Mutation_p.D1083N|TJP2_ENST00000348208.4_Missense_Mutation_p.D969N|TJP2_ENST00000539225.1_Missense_Mutation_p.D1147N|TJP2_ENST00000453658.2_Missense_Mutation_p.D946N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1116					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAAGCATCCTGATATCTATGC	0.498																																																	0								ENSG00000119139						64	58	60					9																	71867755		2203	4300	6503	TJP2	SO:0001583	missense	0			-	HGNC	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3346G>A	9.37:g.71867755G>A	ENSP00000366453:p.Asp1116Asn	Somatic	0	67	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	80	11.11	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP							pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.D1147N	ENST00000377245.4	37	c.3439	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694815	0.48202	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000535702;ENST00000539225	T;T;T;T;T	0.10382	2.91;2.89;2.91;2.88;2.94	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	M	0.61703	1.905	0.22199	N	0.999293	P;D;P;D;B	0.55800	0.825;0.973;0.804;0.964;0.232	B;P;B;D;B	0.66084	0.367;0.736;0.43;0.941;0.077	T	0.04065	-1.0980	10	0.41790	T	0.15	.	13.4378	0.61094	0.0752:0.0:0.9248:0.0	.	1147;1083;946;969;1116	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2	.;.;.;.;ZO2_HUMAN	N	946;1116;969;1083;1147	ENSP00000392178:D946N;ENSP00000366453:D1116N;ENSP00000345893:D969N;ENSP00000442090:D1083N;ENSP00000438262:D1147N	ENSP00000345893:D969N	D	+	1	0	TJP2	71057575	1.000000	0.71417	0.971000	0.41717	0.369000	0.29798	7.350000	0.79385	1.164000	0.42652	0.555000	0.69702	GAT	-	NULL		0.498	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	protein_coding	OTTHUMT00000052572.2	G	NM_201629	-		71867755	1	no_errors	ENST00000539225	ensembl	human	known	74_37	missense	SNP	0.997	A	A	71867755	G	A	71867755	3	1	5	1	0	0	0	0	1	0	0	0	15937	1290	45	2	3691	2	TJP2	9	71867755	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09		71867755	69345676	23	199											
TNC	3371	genome.wustl.edu	37	chr9	117825327	117825327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccaggaaccgtgagaTtgtgagcctcttccacctgg	13	12	1	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr9:117825327T>C	ENST00000350763.4	-	13	4313	c.3902A>G	c.(3901-3903)aAt>aGt	p.N1301S	TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.N1301S|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1301	Fibronectin type-III 8. {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						AACCGTGAGATTGTGAGCCTC	0.587																																																	0								ENSG00000041982						120	83	95					9																	117825327		2203	4300	6503	TNC	SO:0001583	missense	0			-	HGNC		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.3902A>G	9.37:g.117825327T>C	ENSP00000265131:p.Asn1301Ser	Somatic	0	35	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	30	50.00	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.N1301S	ENST00000350763.4	37	c.3902	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.621019	0.00820	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.55760	0.5;0.5	5.12	1.63	0.23807	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.137514	0.64402	N	0.000004	T	0.48409	0.1498	M	0.82056	2.57	0.80722	D	1	B;B	0.21520	0.057;0.0	B;B	0.27500	0.08;0.005	T	0.25710	-1.0124	10	0.15499	T	0.54	.	6.2323	0.20742	0.0:0.3912:0.0:0.6088	.	1301;1301	E9PC84;P24821	.;TENA_HUMAN	S	1301	ENSP00000265131:N1301S;ENSP00000411406:N1301S	ENSP00000265131:N1301S	N	-	2	0	TNC	116865148	0.830000	0.29337	0.176000	0.23000	0.040000	0.13550	2.631000	0.46502	0.106000	0.17784	-0.256000	0.11100	AAT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160	-		117825327	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	SNP	0.996	C	C	117825327	T	C	117825327	3	2	5	1	0	0	0	0	1	0	0	0	16277	1493	52	5	2767	5	TNC	9	117825327	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09	45957572	117825327	23388104	24	200											
ADARB2	105	genome.wustl.edu	37	chr10	1284348	1284348	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccacgacctgcgcctGccgagcatccaggcctgggg	15	16	0	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr10:1284348G>A	ENST00000381312.1	-	5	1532	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	403					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACCTGCGCCTGCCGAGCATCC	0.662																																																	0								ENSG00000185736						19	14	16					10																	1284348		2179	4258	6437	ADARB2	SO:0001587	stop_gained	0			-	HGNC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1207C>T	10.37:g.1284348G>A	ENSP00000370713:p.Gln403*	Somatic	0	67	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	B2RPJ5|Q5VUT6|Q5VW42	Nonsense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.Q403*	ENST00000381312.1	37	c.1207	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.328409	0.97476	.	.	ENSG00000185736	ENST00000381312	.	.	.	5.7	5.7	0.88788	.	0.222920	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-24.8849	19.8391	0.96675	0.0:0.0:1.0:0.0	.	.	.	.	X	403	.	ENSP00000370713:Q403X	Q	-	1	0	ADARB2	1274348	1.000000	0.71417	0.132000	0.22025	0.035000	0.12851	5.345000	0.65987	2.690000	0.91761	0.462000	0.41574	CAG	-	smart_A_deamin		0.662	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	protein_coding	OTTHUMT00000046426.1	G	NM_018702	-		1284348	-1	no_errors	ENST00000381312	ensembl	human	known	74_37	nonsense	SNP	0.989	A	A	1284348	G	A	1284348	4	1	5	1	0	0	0	0	0	1	0	0	283	1328	46	2	1036	2	ADARB2	10	1284348	Nonsense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09		1284348	134250399	25	201											
SLC16A9	220963	genome.wustl.edu	37	chr10	61413832	61413832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtggaaaccctccgaTgtcaaagagtaagatagcaa	11	7	1	3	rs199889507	byFrequency	TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr10:61413832T>G	ENST00000395348.3	-	5	1588	c.952A>C	c.(952-954)Atc>Ctc	p.I318L	SLC16A9_ENST00000395347.1_Missense_Mutation_p.I318L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	318					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AACCCTCCGATGTCAAAGAGT	0.358																																																	0								ENSG00000165449						54	53	53					10																	61413832		2203	4300	6503	SLC16A9	SO:0001583	missense	0			-	HGNC	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.952A>C	10.37:g.61413832T>G	ENSP00000378757:p.Ile318Leu	Somatic	0	27	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	7	68.18	Q6ZMI2|Q9UFH8	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I318L	ENST00000395348.3	37	c.952	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	T	8.009	0.757144	0.15846	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.57752	0.38;0.38	4.92	2.56	0.30785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.177997	0.49305	D	0.000146	T	0.25121	0.0610	N	0.10733	0.035	0.40526	D	0.980884	B	0.02656	0.0	B	0.12156	0.007	T	0.22068	-1.0227	10	0.02654	T	1	.	9.2212	0.37377	0.0:0.1503:0.0:0.8497	.	318	Q7RTY1	MOT9_HUMAN	L	318	ENSP00000378757:I318L;ENSP00000378756:I318L	ENSP00000378756:I318L	I	-	1	0	SLC16A9	61083838	1.000000	0.71417	0.911000	0.35937	0.960000	0.62799	1.395000	0.34520	0.230000	0.21059	-0.346000	0.07831	ATC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.358	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	protein_coding	OTTHUMT00000048174.2	T	NM_194298	-		61413832	-1	no_errors	ENST00000395347	ensembl	human	known	74_37	missense	SNP	1.000	G	G	61413832	T	G	61413832	3	3	5	1	0	0	0	0	1	0	0	0	14423	1464	51	5	585	5	SLC16A9	10	61413832	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09	60129484	61413832	74120915	26	202											
MYOF	26509	genome.wustl.edu	37	chr10	95139652	95139652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagctaggagagtgttcaCcgcatccaggcgatgactaa	11	10	1	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr10:95139652C>T	ENST00000359263.4	-	21	1968	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	MYOF_ENST00000371502.4_Missense_Mutation_p.V657M|MYOF_ENST00000358334.5_Missense_Mutation_p.V644M|MYOF_ENST00000371501.4_Missense_Mutation_p.V657M	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	657					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAGTGTTCACCGCATCCAGG	0.468																																																	0								ENSG00000138119						69	67	67					10																	95139652		1928	4130	6058	MYOF	SO:0001583	missense	0			-	HGNC	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1969G>A	10.37:g.95139652C>T	ENSP00000352208:p.Val657Met	Somatic	0	35	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.V657M	ENST00000359263.4	37	c.1969	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073911	0.55646	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	.	0.059138	0.64402	D	0.000002	D	0.87366	0.6159	M	0.65320	2	0.58432	D	0.999999	P;D	0.56287	0.896;0.975	P;P	0.58331	0.817;0.837	D	0.85902	0.1435	10	0.38643	T	0.18	-19.9024	14.7451	0.69485	0.145:0.855:0.0:0.0	.	644;657	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	M	644;657;657;657	ENSP00000351094:V644M;ENSP00000352208:V657M;ENSP00000360556:V657M;ENSP00000360557:V657M	ENSP00000351094:V644M	V	-	1	0	MYOF	95129642	1.000000	0.71417	0.969000	0.41365	0.621000	0.37620	4.588000	0.60999	2.791000	0.96007	0.655000	0.94253	GTG	-	NULL		0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	protein_coding	OTTHUMT00000049423.2	C	NM_013451	-		95139652	-1	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	SNP	0.995	T	T	95139652	C	T	95139652	3	4	5	1	0	0	0	0	1	0	0	0	10091	507	18	2	4352	2	MYOF	10	95139652	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	33725820	95139652	40395095	27	203											
CNNM2	54805	genome.wustl.edu	37	chr10	104679747	104679747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaagacttggccttcgtgGatcccgatgactgtaccccc	9	14	1	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr10:104679747G>A	ENST00000369878.4	+	1	1698	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	CNNM2_ENST00000369875.3_Missense_Mutation_p.D504N|CNNM2_ENST00000433628.2_Missense_Mutation_p.D504N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	504	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCTTCGTGGATCCCGATGA	0.498																																																	0								ENSG00000148842						125	128	127					10																	104679747		2203	4300	6503	CNNM2	SO:0001583	missense	0			-	HGNC	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1510G>A	10.37:g.104679747G>A	ENSP00000358894:p.Asp504Asn	Somatic	0	77	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	22	55.10	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP							pfam_DUF21,superfamily_cNMP-bd-like	p.D504N	ENST00000369878.4	37	c.1510	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796183	0.70567	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.76316	-1.01;-1.01;-1.01	5.09	5.09	0.68999	Cystathionine beta-synthase, core (1);	0.091360	0.64402	D	0.000001	D	0.87657	0.6232	M	0.70275	2.135	0.80722	D	1	B;B;D	0.89917	0.224;0.143;1.0	B;B;D	0.91635	0.348;0.189;0.999	D	0.88139	0.2843	10	0.52906	T	0.07	.	18.475	0.90790	0.0:0.0:1.0:0.0	.	504;504;504	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	N	504	ENSP00000392875:D504N;ENSP00000358891:D504N;ENSP00000358894:D504N	ENSP00000286899:D504N	D	+	1	0	CNNM2	104669737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.852000	0.99516	2.343000	0.79666	0.561000	0.74099	GAT	-	NULL		0.498	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	protein_coding	OTTHUMT00000050113.3	G	NM_017649	-		104679747	1	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104679747	G	A	104679747	3	1	5	1	0	0	0	0	1	0	0	0	3615	1174	41	2	1512	2	CNNM2	10	104679747	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	9540095	104679747	30855000	28	204											
FANK1	92565	genome.wustl.edu	37	chr10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgaccatggagcccCagagtaagggaggcccgggc	16	13	0	1	rs202109621		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																																	0								ENSG00000203780						8	12	11					10																	127585221		2169	4258	6427	FANK1	SO:0001587	stop_gained	0			-	HGNC	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*	Somatic	0	107	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	92	8.91	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.Q4*	ENST00000368693.1	37	c.10	CCDS31309.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG	-	NULL		0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	protein_coding		C	NM_145235	rs202109621		127585221	1	no_errors	ENST00000368693	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	127585221	C	T	127585221	4	4	5	1	0	0	0	0	0	1	0	0	5674	595	21	2	12	2	FANK1	10	127585221	Nonsense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	22905474	127585221	7949526	29	205											
ZNF511	118472	genome.wustl.edu	37	chr10	135123312	135123312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgccaggtggccggctGctgccaggtgttcgatgccc	15	14	0	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr10:135123312G>A	ENST00000359035.3	+	3	263	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	ZNF511_ENST00000368554.4_Missense_Mutation_p.C22Y|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.C87Y|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000463816.2_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	87					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(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTGGCCGGCTGCTGCCAGGTG	0.622																																																	0								ENSG00000198546						89	73	78					10																	135123312		2203	4300	6503	ZNF511	SO:0001583	missense	0			-	HGNC	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.260G>A	10.37:g.135123312G>A	ENSP00000351929:p.Cys87Tyr	Somatic	0	47	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP							smart_Znf_C2H2-like	p.C22Y	ENST00000359035.3	37	c.65		10	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834650	0.91036	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88277	-2.36;-2.36;-2.36	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.092546	0.85682	D	0.000000	D	0.95554	0.8555	M	0.90019	3.08	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96221	0.9160	10	0.87932	D	0	-24.3782	17.699	0.88289	0.0:0.0:1.0:0.0	.	87;22;87	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	Y	87;87;22	ENSP00000355251:C87Y;ENSP00000351929:C87Y;ENSP00000357542:C22Y	ENSP00000351929:C87Y	C	+	2	0	ZNF511	134973302	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.351000	0.97073	2.608000	0.88229	0.655000	0.94253	TGC	-	smart_Znf_C2H2-like		0.622	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	protein_coding	OTTHUMT00000051143.1	G	NM_145806	-		135123312	1	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135123312	G	A	135123312	3	1	5	1	0	0	0	0	1	0	0	0	17962	1319	46	2	270	2	ZNF511	10	135123312	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	7538091	135123312	411435	30	206											
RRP8	23378	genome.wustl.edu	37	chr11	6621898	6621898	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtcctgggggctcttaCcctggcttcagtactctatt	10	12	3	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr11:6621898C>T	ENST00000254605.6	-	5	1272		c.e5+1		RP11-732A19.8_ENST00000527191.1_RNA|RRP8_ENST00000534343.1_Splice_Site	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)						cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGGGCTCTTACCCTGGCTTCA	0.488																																																	0								ENSG00000132275						101	102	102					11																	6621898		2201	4296	6497	RRP8	SO:0001630	splice_region_variant	0			-	HGNC	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1154+1G>A	11.37:g.6621898C>T		Somatic	0	29	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q7KZ78|Q9BVM6	Splice_Site	SNP							-	e5+1	ENST00000254605.6	37	c.1154+1	CCDS31411.1	11	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416064	0.62511	.	.	ENSG00000132275	ENST00000254605;ENST00000534343	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.543	0.87853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRP8	6578474	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.953000	0.75995	2.793000	0.96121	0.561000	0.74099	.	-	-		0.488	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP8	protein_coding	OTTHUMT00000384505.1	C	NM_015324	-	Intron	6621898	-1	no_errors	ENST00000254605	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	6621898	C	T	6621898	5	4	5	1	0	0	0	0	0	0	1	0	13698	521	18	2	227	2	RRP8	11	6621898	Splice_Site	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		6621898	128384618	31	207											
CASP5	838	genome.wustl.edu	37	chr11	104878040	104878041	+	Frame_Shift_Ins	INS	-	-	T													gtattccaacatcttaactgINSttttttttttgtggttgtct					rs112680102|rs144697764		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr11:104878040_104878041insT	ENST00000260315.3	-	3	201_202	c.202_203insA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000393141.2_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T10fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Ins_p.T35fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATCTTAACTGTTTTTTTTTTG	0.356																																																	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000137757																																			CASP5	SO:0001589	frameshift_variant	0				HGNC		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.203dupA	11.37:g.104878050_104878050dupT	ENSP00000260315:p.Thr68fs	Somatic	0	31	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS							pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.242_241	CCDS8328.2	11																																																																																			-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.356	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	protein_coding	OTTHUMT00000109397.2	-	NM_004347			104878041	-1	no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	T	T	104878041	-	T	104878040	7	5	5	1	0	1	1	0	0	0	0	0	2676	1377	48	0	1129	0	CASP5	11	104878040	Frame_Shift_Ins	INS	-	TCGA-3B-A9HP-01A-11D-A387-09	98256142	104878040	30128476	32	208											
TULP3	7289	genome.wustl.edu	37	chr12	3031436	3031436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggcccttaggtattgatGgtccagctgctgtcctgaaa	11	9	0	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr12:3031436G>T	ENST00000448120.2	+	4	313	c.262G>T	c.(262-264)Ggt>Tgt	p.G88C	TULP3_ENST00000397132.2_Missense_Mutation_p.G88C	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	88					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGGTATTGATGGTCCAGCTGC	0.398																																																	0								ENSG00000078246						148	133	138					12																	3031436		2203	4300	6503	TULP3	SO:0001583	missense	0			-	HGNC	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.262G>T	12.37:g.3031436G>T	ENSP00000410051:p.Gly88Cys	Somatic	0	62	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.G88C	ENST00000448120.2	37	c.262	CCDS8519.1	12	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399839	0.25291	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.93426	-3.15;-3.22	5.18	5.18	0.71444	.	0.340862	0.34046	N	0.004318	D	0.95943	0.8679	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	D	0.96009	0.9000	10	0.87932	D	0	-32.7796	11.78	0.52008	0.0862:0.0:0.9138:0.0	.	88;88	O75386;F8WBZ9	TULP3_HUMAN;.	C	69;88;88;88	ENSP00000410051:G88C;ENSP00000380321:G88C	ENSP00000228245:G88C	G	+	1	0	TULP3	2901697	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.158000	0.77470	2.406000	0.81754	0.561000	0.74099	GGT	-	NULL		0.398	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TULP3	protein_coding	OTTHUMT00000398468.1	G	NM_003324	-		3031436	1	no_errors	ENST00000448120	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3031436	G	T	3031436	3	4	5	1	0	0	0	0	1	0	0	0	16782	1348	47	3	276	3	TULP3	12	3031436	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09		3031436	130820459	33	209											
KCNA1	3736	genome.wustl.edu	37	chr12	5021427	5021427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcctcagggtcatcCgcttggtaagggtttttaga	12	9	2	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr12:5021427C>G	ENST00000382545.3	+	2	1990	c.883C>G	c.(883-885)Cgc>Ggc	p.R295G	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)	295					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.R295C(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)	CAGGGTCATCCGCTTGGTAAG	0.552																																																	1	Substitution - Missense(1)	stomach(1)						ENSG00000111262						61	65	64					12																	5021427		2203	4300	6503	KCNA1	SO:0001583	missense	0			-	HGNC	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.883C>G	12.37:g.5021427C>G	ENSP00000371985:p.Arg295Gly	Somatic	0	11	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	A6NM83|Q3MIQ9	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.R295G	ENST00000382545.3	37	c.883	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545100	0.45280	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.99226	-5.59	5.08	3.21	0.36854	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98076	1.0401	10	0.87932	D	0	.	12.5675	0.56318	0.5722:0.4278:0.0:0.0	.	295	Q09470	KCNA1_HUMAN	G	295	ENSP00000371985:R295G	ENSP00000228858:R295G	R	+	1	0	KCNA1	4891688	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.404000	0.44539	0.805000	0.34159	0.655000	0.94253	CGC	-	pfam_Ion_trans_dom		0.552	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	protein_coding	OTTHUMT00000103343.2	C	NM_000217	-		5021427	1	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	SNP	1.000	G	G	5021427	C	G	5021427	3	3	5	1	0	0	0	0	1	0	0	0	8003	652	23	4	885	4	KCNA1	12	5021427	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	1989991	5021427	128830468	34	210											
NANOG	79923	genome.wustl.edu	37	chr12	7947686	7947686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatgcaacctgaagacGtgtgaagatgagtgaaactg	12	6	0	7			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr12:7947686G>T	ENST00000229307.4	+	4	1132	c.913G>T	c.(913-915)Gtg>Ttg	p.V305L	NANOG_ENST00000526286.1_Missense_Mutation_p.V289L	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	305	Sufficient for strong transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACCTGAAGACGTGTGAAGATG	0.418																																																	0								ENSG00000111704						14	15	14					12																	7947686		1000	2043	3043	NANOG	SO:0001583	missense	0			-	HGNC	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.913G>T	12.37:g.7947686G>T	ENSP00000229307:p.Val305Leu	Somatic	0	76	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.59	D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.V305L	ENST00000229307.4	37	c.913	CCDS31736.1	12	.	.	.	.	.	.	.	.	.	.	g	2.404	-0.336966	0.05278	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.91351	-2.81;-2.83	2.51	-2.21	0.06973	.	2.488580	0.01124	N	0.005841	D	0.82884	0.5134	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63773	-0.6561	10	0.21014	T	0.42	.	1.1207	0.01724	0.2554:0.152:0.4205:0.1722	.	305	Q9H9S0	NANOG_HUMAN	L	305;289	ENSP00000229307:V305L;ENSP00000435288:V289L	ENSP00000229307:V305L	V	+	1	0	NANOG	7838953	0.000000	0.05858	0.049000	0.19019	0.108000	0.19459	-1.946000	0.01536	-0.945000	0.03681	-0.967000	0.02615	GTG	-	NULL		0.418	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOG	protein_coding	OTTHUMT00000387480.2	G	NM_024865	-		7947686	1	no_errors	ENST00000229307	ensembl	human	known	74_37	missense	SNP	0.090	T	T	7947686	G	T	7947686	3	4	5	1	0	0	0	0	1	0	0	0	10152	1145	40	3	927	3	NANOG	12	7947686	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	2926259	7947686	125904209	35	211											
C12orf45	121053	genome.wustl.edu	37	chr12	105380151	105380151	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggaggtccatggcaagccCaaggctagcccgagttgttc	13	11	0	0	rs539464433		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr12:105380151C>G	ENST00000552951.1	+	1	64	c.21C>G	c.(19-21)ccC>ccG	p.P7P	C12orf45_ENST00000280749.5_Silent_p.P7P	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	7										large_intestine(1)|lung(2)	3						ATGGCAAGCCCAAGGCTAGCC	0.662																																																	0								ENSG00000151131						22	27	25					12																	105380151		1960	4152	6112	C12orf45	SO:0001819	synonymous_variant	0			-	HGNC	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.21C>G	12.37:g.105380151C>G		Somatic	0	190	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	83	39.42		Silent	SNP							NULL	p.P7	ENST00000552951.1	37	c.21	CCDS41825.1	12																																																																																			-	NULL		0.662	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf45	protein_coding	OTTHUMT00000406076.1	C	NM_152318	-		105380151	1	no_errors	ENST00000552951	ensembl	human	known	74_37	silent	SNP	0.000	G	G	105380151	C	G	105380151	2	3	5	1	0	0	0	0	0	0	0	1	1693	581	21	4		4	C12orf45	12	105380151	Silent	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	97432465	105380151	28471744	36	212											
WSCD2	9671	genome.wustl.edu	37	chr12	108589816	108589816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtccttcttgggtgaCatgcatctgggcagaggttt	14	8	2	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr12:108589816C>T	ENST00000332082.4	+	3	1025	c.207C>T	c.(205-207)gaC>gaT	p.D69D	WSCD2_ENST00000549903.1_Silent_p.D69D|WSCD2_ENST00000547525.1_Silent_p.D69D|WSCD2_ENST00000261400.3_Silent_p.D69D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	69						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						TCTTGGGTGACATGCATCTGG	0.617																																																	0								ENSG00000075035						144	145	145					12																	108589816		2067	4220	6287	WSCD2	SO:0001819	synonymous_variant	0			-	HGNC		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.207C>T	12.37:g.108589816C>T		Somatic	0	32	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP							pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.D69	ENST00000332082.4	37	c.207	CCDS41828.1	12																																																																																			-	NULL		0.617	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	protein_coding	OTTHUMT00000405554.1	C	NM_014653	-		108589816	1	no_errors	ENST00000261400	ensembl	human	known	74_37	silent	SNP	0.016	T	T	108589816	C	T	108589816	2	4	5	1	0	0	0	0	0	0	0	1	17414	477	17	2		2	WSCD2	12	108589816	Silent	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	3209665	108589816	25262079	37	213											
RB1	5925	genome.wustl.edu	37	chr13	48947563	48947563	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttatgaacactatccaaCaattaatgatgattttaaat	4	6	0	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr13:48947563C>T	ENST00000267163.4	+	12	1288	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	384	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CACTATCCAACAATTAATGAT	0.289		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM942037	RB1	M		ENSG00000139687						104	112	109					13																	48947563		2202	4288	6490	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1150C>T	13.37:g.48947563C>T	ENSP00000267163:p.Gln384*	Somatic	0	25	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	17	54.05	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q384*	ENST00000267163.4	37	c.1150	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.853907	0.97889	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.54	5.54	0.83059	.	0.237466	0.44097	D	0.000496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.4822	0.95014	0.0:1.0:0.0:0.0	.	.	.	.	X	363;384	.	ENSP00000267163:Q384X	Q	+	1	0	RB1	47845564	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.779000	0.68948	2.612000	0.88384	0.563000	0.77884	CAA	-	pfam_RB_A,superfamily_Cyclin-like		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		-		48947563	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48947563	C	T	48947563	4	4	5	1	0	0	0	0	0	1	0	0	13106	479	17	2	1196	2	RB1	13	48947563	Nonsense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		48947563	66222315	38	214											
COL4A1	1282	genome.wustl.edu	37	chr13	110857840	110857840	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccacagagaaacacttaCgggactccctttttcccctt	5	14	0	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr13:110857840C>T	ENST00000375820.4	-	16	1025		c.e16+1		COL4A1_ENST00000543140.1_Splice_Site	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GAAACACTTACGGGACTCCCT	0.453																																																	0								ENSG00000187498						158	183	175					13																	110857840		2203	4300	6503	COL4A1	SO:0001630	splice_region_variant	0			-	HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.903+1G>A	13.37:g.110857840C>T		Somatic	0	65	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	51	36.25	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	SNP							-	e16+1	ENST00000375820.4	37	c.903+1	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920147	0.33908	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A1	109655841	1.000000	0.71417	0.951000	0.38953	0.182000	0.23217	6.037000	0.70956	2.280000	0.76307	0.551000	0.68910	.	-	-		0.453	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	C		-	Intron	110857840	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	splice_site	SNP	0.998	T	T	110857840	C	T	110857840	5	4	5	1	0	0	0	0	0	0	1	0	3691	550	19	1	4253	1	COL4A1	13	110857840	Splice_Site	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	61910277	110857840	4312038	39	215											
SLC8A3	6547	genome.wustl.edu	37	chr14	70634566	70634566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatcttgcgagtctctcCgtctgggatcacgtagacac	10	12	4	2	rs374224410		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr14:70634566C>T	ENST00000381269.2	-	2	1327	c.574G>A	c.(574-576)Gga>Aga	p.G192R	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G192R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G192R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G192R|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G192R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	192					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGAGTCTCTCCGTCTGGGATC	0.483																																																	0								ENSG00000100678	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	87	77	80		574,574,574,574	5.6	1	14		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	125,125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	192/926,192/925,192/922,192/928	70634566	1,13005	2203	4300	6503	SLC8A3	SO:0001583	missense	0			-	HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.574G>A	14.37:g.70634566C>T	ENSP00000370669:p.Gly192Arg	Somatic	0	14	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.G192R	ENST00000381269.2	37	c.574	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245944	0.59103	0.0	1.16E-4	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	M	0.88450	2.955	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	0.86179	0.1605	10	0.87932	D	0	.	19.5866	0.95492	0.0:1.0:0.0:0.0	.	192;192;192;192	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	R	192	ENSP00000349392:G192R;ENSP00000370669:G192R;ENSP00000350560:G192R;ENSP00000436688:G192R;ENSP00000433531:G192R	ENSP00000349392:G192R	G	-	1	0	SLC8A3	69704319	1.000000	0.71417	0.976000	0.42696	0.642000	0.38348	7.811000	0.86092	2.620000	0.88729	0.555000	0.69702	GGA	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	C		-		70634566	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70634566	C	T	70634566	3	4	5	1	0	0	0	0	1	0	0	0	14716	661	23	1	2348	1	SLC8A3	14	70634566	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		70634566	36714974	40	216											
ATP10A	57194	genome.wustl.edu	37	chr15	25924869	25924869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactggcatgctcatgtcCactgtgctgggctccccgct	10	16	2	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr15:25924869C>T	ENST00000356865.6	-	21	4230	c.4119G>A	c.(4117-4119)gtG>gtA	p.V1373V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1373					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCTCATGTCCACTGTGCTGG	0.672																																																	0								ENSG00000206190						51	49	50					15																	25924869		2203	4300	6503	ATP10A	SO:0001819	synonymous_variant	0			-	HGNC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4119G>A	15.37:g.25924869C>T		Somatic	0	32	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q4G0S9|Q969I4	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V1373	ENST00000356865.6	37	c.4119	CCDS32178.1	15																																																																																			-	NULL		0.672	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	protein_coding	OTTHUMT00000414830.1	C	NM_024490	-		25924869	-1	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	SNP	0.003	T	T	25924869	C	T	25924869	2	4	5	1	0	0	0	0	0	0	0	1	1116	581	21	2		2	ATP10A	15	25924869	Silent	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		25924869	76606523	41	217											
MYO5C	55930	genome.wustl.edu	37	chr15	52571854	52571854	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaggcagagattctggattGacagaataatccagctccta	11	8	1	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr15:52571854G>T	ENST00000261839.7	-	3	317	c.156C>A	c.(154-156)gtC>gtA	p.V52V	MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATTCTGGATTGACAGAATAAT	0.463																																																	0								ENSG00000128833						40	40	40					15																	52571854		1849	4104	5953	MYO5C	SO:0001819	synonymous_variant	0			-	HGNC	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.156C>A	15.37:g.52571854G>T		Somatic	0	28	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q6P1W8	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V52	ENST00000261839.7	37	c.156	CCDS42036.1	15																																																																																			-	superfamily_P-loop_NTPase		0.463	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	protein_coding	OTTHUMT00000419562.1	G	NM_018728	-		52571854	-1	no_errors	ENST00000261839	ensembl	human	known	74_37	silent	SNP	0.001	T	T	52571854	G	T	52571854	2	4	5	1	0	0	0	0	0	0	0	1	10082	1277	45	3		3	MYO5C	15	52571854	Silent	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	26646985	52571854	49959538	42	218											
C16orf62	57020	genome.wustl.edu	37	chr16	19584522	19584522	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttggaccaacaaacggggaGaaatccttgcccggtacacc	10	13	0	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr16:19584522G>T	ENST00000251143.5	+	4	379	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	C16orf62_ENST00000542263.1_Nonsense_Mutation_p.E212*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.E123*|C16orf62_ENST00000538853.1_Nonsense_Mutation_p.E212*|C16orf62_ENST00000438132.3_Nonsense_Mutation_p.E212*			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	123						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAAACGGGGAGAAATCCTTGC	0.448																																																	0								ENSG00000103544						137	136	136					16																	19584522		2197	4300	6497	C16orf62	SO:0001587	stop_gained	0			-	HGNC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.367G>T	16.37:g.19584522G>T	ENSP00000251143:p.Glu123*	Somatic	0	42	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Nonsense_Mutation	SNP							NULL	p.E212*	ENST00000251143.5	37	c.634		16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641998	0.87859	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	.	.	.	5.3	5.3	0.74995	.	0.060450	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-24.0285	17.9828	0.89146	0.0:0.0:1.0:0.0	.	.	.	.	X	212;212;212;123;123	.	ENSP00000251143:E123X	E	+	1	0	C16orf62	19492023	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.487000	0.97945	2.484000	0.83849	0.552000	0.68991	GAA	-	NULL		0.448	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	protein_coding		G	NM_020314	-		19584522	1	no_errors	ENST00000438132	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	19584522	G	T	19584522	4	4	5	1	0	0	0	0	0	1	0	0	1827	943	33	3	381	3	C16orf62	16	19584522	Nonsense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09		19584522	70770231	43	219											
COG7	91949	genome.wustl.edu	37	chr16	23430054	23430054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatctggatgaggaggttGctctcttccatgtcgccata	10	11	3	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr16:23430054G>A	ENST00000307149.5	-	8	1289	c.1104C>T	c.(1102-1104)agC>agT	p.S368S		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	368					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGAGGAGGTTGCTCTCTTCCA	0.517																																																	0								ENSG00000168434						136	100	112					16																	23430054		2197	4300	6497	COG7	SO:0001819	synonymous_variant	0			-	HGNC	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1104C>T	16.37:g.23430054G>A		Somatic	0	22	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q6UWU7	Silent	SNP							pfam_COG7	p.S368	ENST00000307149.5	37	c.1104	CCDS10610.1	16																																																																																			-	pfam_COG7		0.517	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	protein_coding	OTTHUMT00000211625.1	G		-		23430054	-1	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	SNP	0.000	A	A	23430054	G	A	23430054	2	1	5	1	0	0	0	0	0	0	0	1	3665	1310	46	2		2	COG7	16	23430054	Silent	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	3845532	23430054	66924699	44	220											
ABR	29	genome.wustl.edu	37	chr17	994962	994962	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccactgttgcaccttgggGcacaggttgtcatagaactc	10	12	1	1	rs35857113	byFrequency	TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr17:994962G>T	ENST00000302538.5	-	4	620	c.474C>A	c.(472-474)tgC>tgA	p.C158*	ABR_ENST00000574437.1_Nonsense_Mutation_p.C112*|ABR_ENST00000544583.2_Nonsense_Mutation_p.C112*|ABR_ENST00000291107.2_Nonsense_Mutation_p.C121*	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	158	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCACCTTGGGGCACAGGTTGT	0.577																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0								ENSG00000159842						162	136	145					17																	994962		2203	4300	6503	ABR	SO:0001587	stop_gained	0			-	HGNC	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.474C>A	17.37:g.994962G>T	ENSP00000303909:p.Cys158*	Somatic	0	28	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Nonsense_Mutation	SNP							pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.C158*	ENST00000302538.5	37	c.474	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.492239	0.96339	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	.	.	.	6.04	3.89	0.44902	.	0.263930	0.44285	D	0.000472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.4977	0.50419	0.1554:0.0:0.8446:0.0	.	.	.	.	X	158;112;121;42	.	ENSP00000291107:C121X	C	-	3	2	ABR	941712	0.937000	0.31787	1.000000	0.80357	0.984000	0.73092	0.091000	0.15046	0.771000	0.33359	0.563000	0.77884	TGC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.577	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	protein_coding	OTTHUMT00000206675.4	G		-		994962	-1	no_errors	ENST00000302538	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	994962	G	T	994962	4	4	5	1	0	0	0	0	0	1	0	0	99	1195	42	3	2185	3	ABR	17	994962	Nonsense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09		994962	80200248	45	221											
ZNF594	84622	genome.wustl.edu	37	chr17	5087237	5087237	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttctgtttgaagttttgGccactaacctcatatctatg	7	9	3	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr17:5087237G>T	ENST00000399604.4	-	1	455	c.315C>A	c.(313-315)ggC>ggA	p.G105G	ZNF594_ENST00000575779.1_Silent_p.G105G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	105					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)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAAGTTTTGGCCACTAACCT	0.378																																																	0								ENSG00000180626						74	70	71					17																	5087237		1847	4098	5945	ZNF594	SO:0001819	synonymous_variant	0			-	HGNC	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.315C>A	17.37:g.5087237G>T		Somatic	0	34	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q6RFS0	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G105	ENST00000399604.4	37	c.315	CCDS42241.1	17																																																																																			-	smart_Znf_C2H2-like		0.378	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	protein_coding	OTTHUMT00000438996.1	G	XM_290737	-		5087237	-1	no_errors	ENST00000399604	ensembl	human	known	74_37	silent	SNP	0.756	T	T	5087237	G	T	5087237	2	4	5	1	0	0	0	0	0	0	0	1	18031	1190	42	3		3	ZNF594	17	5087237	Silent	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	4092275	5087237	76107973	46	222											
TP53	7157	genome.wustl.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	19	3	0	3			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_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.?(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)		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)						ENSG00000141510						42	42	42					17																	7578555		2203	4300	6503	TP53	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;	-	HGNC	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		Somatic	0	17	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	5	73.68	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	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	7578555	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	7578555	C	T	7578555	5	4	5	1	0	0	0	0	0	0	1	0	16388	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	2491318	7578555	73616655	47	223											
KRT14	3861	genome.wustl.edu	37	chr17	39739670	39739670	+	Frame_Shift_Del	DEL	C	C	-													ccagctgcatgcagtagcgaCctttggtctcctccaggctg							TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr17:39739670delC	ENST00000167586.6	-	6	1177	c.1091delG	c.(1090-1092)ggtfs	p.G364fs		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	364	Coil 2.|Rod.	Stutter.			aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCAGTAGCGACCTTTGGTCTC	0.592																																																	0								ENSG00000186847						47	48	47					17																	39739670		2203	4300	6503	KRT14	SO:0001589	frameshift_variant	0				HGNC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1091delG	17.37:g.39739670delC	ENSP00000167586:p.Gly364fs	Somatic	0	75	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	83	13.54	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Frame_Shift_Del	DEL							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G364fs	ENST00000167586.6	37	c.1091	CCDS11400.1	17																																																																																			-	pfam_IF		0.592	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	C	NM_000526			39739670	-1	no_errors	ENST00000167586	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	39739670	C	-	39739670	7	5	5	1	0	1	0	1	0	0	0	0	8453	507	18	0	339	0	KRT14	17	39739670	Frame_Shift_Del	DEL	C	TCGA-3B-A9HP-01A-11D-A387-09	32161115	39739670	41455540	48	224											
TBKBP1	9755	genome.wustl.edu	37	chr17	45776002	45776002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtcagatctgtggtttGgagcagcagctgcggcaaca	14	10	2	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr17:45776002G>T	ENST00000361722.3	+	4	1344	c.495G>T	c.(493-495)ttG>ttT	p.L165F		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						TCTGTGGTTTGGAGCAGCAGC	0.642											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000198933						23	27	25					17																	45776002		2003	4175	6178	TBKBP1	SO:0001583	missense	0			-	HGNC	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.495G>T	17.37:g.45776002G>T	ENSP00000354777:p.Leu165Phe	Somatic	0	50	0	934	0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	80	9.09		Missense_Mutation	SNP							NULL	p.L165F	ENST00000361722.3	37	c.495	CCDS45722.1	17	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343681	0.41498	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.46451	0.87;0.87	5.61	3.62	0.41486	.	0.000000	0.64402	D	0.000011	T	0.49167	0.1541	L	0.29908	0.895	0.58432	D	0.999991	D	0.71674	0.998	D	0.83275	0.996	T	0.47898	-0.9081	10	0.72032	D	0.01	-6.4031	9.6856	0.40096	0.0744:0.0:0.7841:0.1415	.	165	A7MCY6	TBKB1_HUMAN	F	165	ENSP00000354777:L165F;ENSP00000446365:L165F	ENSP00000354777:L165F	L	+	3	2	TBKBP1	43131001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.497000	0.60367	0.721000	0.32231	0.650000	0.86243	TTG	-	NULL		0.642	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	protein_coding	OTTHUMT00000441363.1	G	NM_014726	-		45776002	1	no_errors	ENST00000361722	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45776002	G	T	45776002	3	4	5	1	0	0	0	0	1	0	0	0	15645	1339	47	3	509	3	TBKBP1	17	45776002	Missense_Mutation	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	6036332	45776002	35419208	49	225											
FAM129C	199786	genome.wustl.edu	37	chr19	17654235	17654235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagtcagggggcgcgTgctgaaggtgtgttctgtgg	21	5	2	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr19:17654235T>G	ENST00000335393.4	+	12	1670	c.1532T>G	c.(1531-1533)gTg>gGg	p.V511G	FAM129C_ENST00000600871.1_Missense_Mutation_p.V457G|FAM129C_ENST00000599124.1_Missense_Mutation_p.V480G|FAM129C_ENST00000449408.2_Missense_Mutation_p.V237G|FAM129C_ENST00000352727.3_Missense_Mutation_p.V511G|FAM129C_ENST00000300971.2_Missense_Mutation_p.V511G|FAM129C_ENST00000332386.5_Missense_Mutation_p.V511G|FAM129C_ENST00000595684.1_Missense_Mutation_p.V511G|FAM129C_ENST00000601861.1_Missense_Mutation_p.V480G|FAM129C_ENST00000599164.1_Missense_Mutation_p.V480G	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	511										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGGGGGCGCGTGCTGAAGGTG	0.647																																																	0								ENSG00000167483						89	92	91					19																	17654235		2203	4300	6503	FAM129C	SO:0001583	missense	0			-	HGNC	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1532T>G	19.37:g.17654235T>G	ENSP00000335040:p.Val511Gly	Somatic	0	91	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	101	8.18	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP							smart_Pleckstrin_homology	p.V511G	ENST00000335393.4	37	c.1532	CCDS12362.1	19	.	.	.	.	.	.	.	.	.	.	t	16.80	3.224256	0.58668	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T;T	0.56275	0.76;0.7;1.01;0.77;0.47	4.87	4.87	0.63330	.	0.000000	0.52532	D	0.000075	T	0.66157	0.2761	M	0.76002	2.32	0.50813	D	0.999899	D;D;D;D;P;D	0.67145	0.986;0.996;0.996;0.992;0.948;0.996	P;P;P;P;P;P	0.58266	0.714;0.714;0.776;0.714;0.628;0.836	T	0.70967	-0.4728	10	0.87932	D	0	-42.1399	11.1532	0.48471	0.0:0.0:0.0:1.0	.	457;511;511;511;237;511	E7ENP6;Q86XR2;Q86XR2-3;Q86XR2-4;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.;.	G	511;511;511;511;237;457	ENSP00000335040:V511G;ENSP00000333447:V511G;ENSP00000341067:V511G;ENSP00000300971:V511G;ENSP00000394929:V237G	ENSP00000300971:V511G	V	+	2	0	FAM129C	17515235	1.000000	0.71417	0.993000	0.49108	0.466000	0.32739	2.511000	0.45476	1.960000	0.56953	0.398000	0.26397	GTG	-	NULL		0.647	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	protein_coding	OTTHUMT00000464206.1	T	NM_173544	-		17654235	1	no_errors	ENST00000335393	ensembl	human	known	74_37	missense	SNP	0.999	G	G	17654235	T	G	17654235	3	3	5	1	0	0	0	0	1	0	0	0	5440	1696	59	5	1578	5	FAM129C	19	17654235	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09		17654235	41474748	50	226											
RYR1	6261	genome.wustl.edu	37	chr19	38951109	38951109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgtgctccctcgagagCgactccatcttgaacccatc	9	15	1	2	rs193922774		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr19:38951109C>T	ENST00000359596.3	+	20	2455	c.2455C>T	c.(2455-2457)Cga>Tga	p.R819*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.R819*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.R819*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	819					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)	CCCTCGAGAGCGACTCCATCT	0.642																																																	0			GRCh37	CM081776	RYR1	M		ENSG00000196218						111	107	108					19																	38951109		2203	4300	6503	RYR1	SO:0001587	stop_gained	0			-	HGNC	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.2455C>T	19.37:g.38951109C>T	ENSP00000352608:p.Arg819*	Somatic	0	42	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43	Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R819*	ENST00000359596.3	37	c.2455	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	42	9.195647	0.99096	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.13	3.05	0.35203	.	0.000000	0.64402	U	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	10.5357	0.45002	0.527:0.473:0.0:0.0	.	.	.	.	X	819	.	ENSP00000347667:R819X	R	+	1	2	RYR1	43642949	0.944000	0.32072	0.995000	0.50966	0.979000	0.70002	0.567000	0.23608	1.042000	0.40150	0.299000	0.19835	CGA	-	NULL		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		rs193922774		38951109	1	no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	SNP	0.985	T	T	38951109	C	T	38951109	4	4	5	1	0	0	0	0	0	1	0	0	13776	760	27	1	2533	1	RYR1	19	38951109	Nonsense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	21296874	38951109	20177874	51	227											
SYNGR4	23546	genome.wustl.edu	37	chr19	48879439	48879439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcatggtgctgaccacccTccccttgccctctgccaaca	8	18	1	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr19:48879439T>C	ENST00000344846.2	+	5	819	c.569T>C	c.(568-570)cTc>cCc	p.L190P	SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	190						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)		CTGACCACCCTCCCCTTGCCC	0.597																																																	0								ENSG00000105467						168	132	144					19																	48879439		2203	4300	6503	SYNGR4	SO:0001583	missense	0			-	HGNC	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.569T>C	19.37:g.48879439T>C	ENSP00000344041:p.Leu190Pro	Somatic	0	33	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	Q3KP58	Missense_Mutation	SNP							pfam_Marvel,pirsf_Synaptogyrin	p.L190P	ENST00000344846.2	37	c.569	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602617	0.46423	.	.	ENSG00000105467	ENST00000344846	T	0.47869	0.83	5.51	5.51	0.81932	.	0.235203	0.41294	D	0.000903	T	0.56455	0.1986	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.53251	-0.8465	10	0.33141	T	0.24	-24.4512	13.4458	0.61140	0.0:0.0:0.0:1.0	.	190	O95473	SNG4_HUMAN	P	190	ENSP00000344041:L190P	ENSP00000344041:L190P	L	+	2	0	SYNGR4	53571251	0.998000	0.40836	1.000000	0.80357	0.108000	0.19459	4.226000	0.58606	2.231000	0.72958	0.454000	0.30748	CTC	-	pirsf_Synaptogyrin		0.597	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	protein_coding	OTTHUMT00000465704.1	T		-		48879439	1	no_errors	ENST00000344846	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48879439	T	C	48879439	3	2	5	1	0	0	0	0	1	0	0	0	15458	1551	54	5	583	5	SYNGR4	19	48879439	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09	9928330	48879439	10249544	52	228											
LILRB1	10859	genome.wustl.edu	37	chr19	55144624	55144624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcgtctaagatcaacGtaccaatctcaaaaatacca	5	12	3	1	rs369300705		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr19:55144624G>A	ENST00000396331.1	+	8	1473	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	LILRB1_ENST00000396315.1_Silent_p.T372T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.T372T|LILRB1_ENST00000396317.1_Silent_p.T372T|LILRB1_ENST00000427581.2_Silent_p.T408T|LILRB1_ENST00000396332.4_Silent_p.T372T|LILRB1_ENST00000418536.2_Silent_p.T372T|LILRB1_ENST00000324602.7_Silent_p.T372T|LILRB1_ENST00000434867.2_Silent_p.T372T|LILRB1_ENST00000448689.1_Silent_p.T372T|LILRB1_ENST00000396327.3_Silent_p.T372T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	372	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TAAGATCAACGTACCAATCTC	0.547										HNSCC(37;0.09)																																							0								ENSG00000104972	A	,,,	1,4405	825.4+/-416.5	0,1,2202	117	127	123		1116,1116,1116,1116	0.9	0	19		123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	372/653,372/652,372/652,372/651	55144624	1,13005	2203	4300	6503	LILRB1	SO:0001819	synonymous_variant	0			-	HGNC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1116G>A	19.37:g.55144624G>A		Somatic	0	62	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	41.38	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T372	ENST00000396331.1	37	c.1116	CCDS42617.1	19																																																																																			-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.547	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	protein_coding	OTTHUMT00000140796.4	G		-		55144624	1	no_errors	ENST00000324602	ensembl	human	known	74_37	silent	SNP	0.000	A	A	55144624	G	A	55144624	2	1	5	1	0	0	0	0	0	0	0	1	8792	1132	40	1		1	LILRB1	19	55144624	Silent	SNP	G	TCGA-3B-A9HP-01A-11D-A387-09	6265185	55144624	3984359	53	229											
NLRP9	338321	genome.wustl.edu	37	chr19	56241270	56241270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggagggatcatcaaggcTggtattttccatgtctaaaa	11	7	3	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr19:56241270T>C	ENST00000332836.2	-	3	1948	c.1921A>G	c.(1921-1923)Agc>Ggc	p.S641G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	641						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCATCAAGGCTGGTATTTTCC	0.428																																																	0								ENSG00000185792						102	101	102					19																	56241270		2203	4300	6503	NLRP9	SO:0001583	missense	0			-	HGNC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1921A>G	19.37:g.56241270T>C	ENSP00000331857:p.Ser641Gly	Somatic	0	41	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	B2RN12|Q86W27	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S641G	ENST00000332836.2	37	c.1921	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	t	4.261	0.047573	0.08243	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52754	0.65	3.4	-1.53	0.08611	.	.	.	.	.	T	0.28499	0.0705	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20240	-1.0281	9	0.22706	T	0.39	.	6.3944	0.21605	0.0:0.1069:0.5542:0.339	.	641	Q7RTR0	NALP9_HUMAN	G	641	ENSP00000331857:S641G	ENSP00000331857:S641G	S	-	1	0	NLRP9	60933082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.200000	0.09478	-0.391000	0.07763	-1.193000	0.01689	AGC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.428	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	protein_coding	OTTHUMT00000453653.1	T	NM_176820	-		56241270	-1	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	SNP	0.000	C	C	56241270	T	C	56241270	3	2	5	1	0	0	0	0	1	0	0	0	10486	1580	55	5	1082	5	NLRP9	19	56241270	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09	1096646	56241270	2887713	54	230											
PYGB	5834	genome.wustl.edu	37	chr20	25260953	25260953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaaccacactgtgctgCctgaggccttggagcgctgg	12	14	0	1	rs375208225		TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr20:25260953C>T	ENST00000216962.4	+	10	1254	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	382					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CACTGTGCTGCCTGAGGCCTT	0.542																																																	0								ENSG00000100994	C	SER/PRO	0,4406		0,0,2203	131	118	122		1144	3.8	1	20		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYGB	NM_002862.3	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/844	25260953	1,13005	2203	4300	6503	PYGB	SO:0001583	missense	0			-	HGNC		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1144C>T	20.37:g.25260953C>T	ENSP00000216962:p.Pro382Ser	Somatic	0	38	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q96AK1|Q9NPX8	Missense_Mutation	SNP							pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.P382S	ENST00000216962.4	37	c.1144	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350179	0.82132	0.0	1.16E-4	ENSG00000100994	ENST00000216962	D	0.92858	-3.12	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94368	0.7593	10	0.36615	T	0.2	-17.4395	15.908	0.79445	0.0:1.0:0.0:0.0	.	382	P11216	PYGB_HUMAN	S	382	ENSP00000216962:P382S	ENSP00000216962:P382S	P	+	1	0	PYGB	25208953	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	7.518000	0.81795	2.144000	0.66660	0.462000	0.41574	CCT	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.542	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	protein_coding	OTTHUMT00000078415.2	C	NM_002862	-		25260953	1	no_errors	ENST00000216962	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25260953	C	T	25260953	3	4	5	1	0	0	0	0	1	0	0	0	12868	739	26	2	1182	2	PYGB	20	25260953	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		25260953	37764567	55	231											
RALGAPB	57148	genome.wustl.edu	37	chr20	37137749	37137749	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttacatatggtccttcatTtcctgcatttaaagttcccg	5	11	1	0			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr20:37137749T>A	ENST00000262879.6	+	6	1054	c.770T>A	c.(769-771)tTt>tAt	p.F257Y	RALGAPB_ENST00000397042.3_Missense_Mutation_p.F257Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F257Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F35Y|RALGAPB_ENST00000537204.1_Missense_Mutation_p.F257Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	257					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGTCCTTCATTTCCTGCATTT	0.378																																																	0								ENSG00000170471						221	198	206					20																	37137749		2203	4300	6503	RALGAPB	SO:0001583	missense	0			-	HGNC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.770T>A	20.37:g.37137749T>A	ENSP00000262879:p.Phe257Tyr	Somatic	0	86	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	71	21.98	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP							superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.F257Y	ENST00000262879.6	37	c.770	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996030	0.93167	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.67145	0.996;0.989;0.989;0.989	D;D;D;D	0.76071	0.987;0.969;0.969;0.969	T	0.67457	-0.5666	9	0.38643	T	0.18	.	15.2591	0.73606	0.0:0.0:0.0:1.0	.	257;257;257;257	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	Y	257;257;257;35;257;257;85	.	ENSP00000262879:F257Y	F	+	2	0	RALGAPB	36571163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.037000	0.88933	2.024000	0.59613	0.383000	0.25322	TTT	-	NULL		0.378	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	protein_coding	OTTHUMT00000079191.1	T	NM_020336	-		37137749	1	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37137749	T	A	37137749	3	1	5	1	0	0	0	0	1	0	0	0	13023	1841	64	5	788	5	RALGAPB	20	37137749	Missense_Mutation	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09	11876796	37137749	25887771	56	232											
CCDC116	164592	genome.wustl.edu	37	chr22	21989038	21989038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggattcgctgggtagccagaCcagctttcagtggacacagg	14	10	1	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chr22:21989038C>A	ENST00000292779.3	+	4	847	c.686C>A	c.(685-687)aCc>aAc	p.T229N	CCDC116_ENST00000607942.1_Missense_Mutation_p.T229N	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	229										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGTAGCCAGACCAGCTTTCAG	0.592																																																	0								ENSG00000161180						124	130	128					22																	21989038		2203	4300	6503	CCDC116	SO:0001583	missense	0			-	HGNC	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.686C>A	22.37:g.21989038C>A	ENSP00000292779:p.Thr229Asn	Somatic	0	27	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	Q8N9Y9	Missense_Mutation	SNP							NULL	p.T229N	ENST00000292779.3	37	c.686	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557190	0.27827	.	.	ENSG00000161180	ENST00000292779	T	0.12672	2.66	4.42	0.887	0.19200	.	1.149140	0.06388	N	0.716474	T	0.19005	0.0456	L	0.29908	0.895	0.09310	N	1	P;D	0.57571	0.782;0.98	B;P	0.51806	0.428;0.68	T	0.44436	-0.9328	10	0.66056	D	0.02	-32.0671	12.2863	0.54793	0.0:0.4937:0.5063:0.0	.	229;229	B7Z7H5;Q8IYX3-2	.;.	N	229	ENSP00000292779:T229N	ENSP00000292779:T229N	T	+	2	0	CCDC116	20319038	0.007000	0.16637	0.158000	0.22627	0.136000	0.21042	0.732000	0.26072	0.181000	0.19994	0.485000	0.47835	ACC	-	NULL		0.592	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	protein_coding	OTTHUMT00000320199.1	C	NM_152612	-		21989038	1	no_errors	ENST00000292779	ensembl	human	known	74_37	missense	SNP	0.054	A	A	21989038	C	A	21989038	3	1	5	1	0	0	0	0	1	0	0	0	2755	507	18	3	696	3	CCDC116	22	21989038	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09		21989038	29315528	57	233											
POLA1	5422	genome.wustl.edu	37	chrX	24760226	24760226	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagattttcagaaagccTcagcaaaaactggtgggtcc	10	9	2	2			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chrX:24760226T>C	ENST00000379059.3	+	22	2451	c.2436T>C	c.(2434-2436)ccT>ccC	p.P812P	SCARNA23_ENST00000516060.1_RNA|POLA1_ENST00000379068.3_Silent_p.P818P	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	812					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TCAGAAAGCCTCAGCAAAAAC	0.423																																																	0								ENSG00000101868						91	78	82					X																	24760226		2203	4300	6503	POLA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2436T>C	X.37:g.24760226T>C		Somatic	0	226	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	232	8.66	Q86UQ7	Silent	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.P818	ENST00000379059.3	37	c.2454	CCDS14214.1	X																																																																																			-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2		0.423	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	protein_coding	OTTHUMT00000056111.1	T	NM_016937	-		24760226	1	no_errors	ENST00000379068	ensembl	human	known	74_37	silent	SNP	1.000	C	C	24760226	T	C	24760226	2	2	5	1	0	0	0	0	0	0	0	1	12189	1538	54	5		5	POLA1	23	24760226	Silent	SNP	T	TCGA-3B-A9HP-01A-11D-A387-09		24760226	130510334	58	234											
CTAG2	30848	genome.wustl.edu	37	chrX	153881533	153881533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatacaactgaagcaggCggctgtccggcctcctggcc	13	14	0	1			TCGA-3B-A9HP-01A-11D-A387-09	TCGA-3B-A9HP-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd65431f-eb47-461e-bf3f-5bcbe231c50d	d674737f-2b83-480d-9de2-ee333824475e	g.chrX:153881533C>T	ENST00000247306.4	-	1	320	c.257G>A	c.(256-258)cGc>cAc	p.R86H	CTAG2_ENST00000369585.3_Missense_Mutation_p.R86H	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	86						centrosome (GO:0005813)		p.R86H(2)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					CTGAAGCAGGCGGCTGTCCGG	0.687																																																	2	Substitution - Missense(2)	pancreas(2)						ENSG00000126890						38	37	37					X																	153881533		2200	4297	6497	CTAG2	SO:0001583	missense	0			-	HGNC	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.257G>A	X.37:g.153881533C>T	ENSP00000247306:p.Arg86His	Somatic	0	22	0		0.625213782529871				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP							pfam_EKC/KEOPS_Pcc1	p.R86H	ENST00000247306.4	37	c.257	CCDS14759.1	X	.	.	.	.	.	.	.	.	.	.	c	12.41	1.929421	0.34096	.	.	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.54071	1.06;0.59	1.39	-2.79	0.05841	.	.	.	.	.	T	0.27697	0.0681	N	0.14661	0.345	0.09310	N	1	B;B	0.23854	0.055;0.092	B;B	0.06405	0.001;0.002	T	0.13308	-1.0514	9	0.87932	D	0	0.1405	2.8387	0.05523	0.0:0.2296:0.2473:0.5231	.	86;86	O75638;O75638-2	CTAG2_HUMAN;.	H	86;86;28	ENSP00000247306:R86H;ENSP00000358598:R86H	ENSP00000247306:R86H	R	-	2	0	CTAG2	153534727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.939000	0.03933	-0.758000	0.04690	-0.491000	0.04670	CGC	-	NULL		0.687	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	protein_coding	OTTHUMT00000061176.1	C	NM_020994	-		153881533	-1	no_errors	ENST00000369585	ensembl	human	known	74_37	missense	SNP	0.000	T	T	153881533	C	T	153881533	3	4	5	1	0	0	0	0	1	0	0	0	3993	768	27	1	522	1	CTAG2	23	153881533	Missense_Mutation	SNP	C	TCGA-3B-A9HP-01A-11D-A387-09	129121307	153881533	1389027	59	235											
TMCO4	255104	genome.wustl.edu	37	chr1	20027301	20027301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccggacaccaccttccGgaaaggctcccaatgcttgg	9	17	0	0	rs144254063		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:20027301G>A	ENST00000294543.6	-	14	1583	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	TMCO4_ENST00000375122.2_Missense_Mutation_p.R408W|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.R448W	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	448						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCACCTTCCGGAAAGGCTCC	0.567																																																	0								ENSG00000162542	G	TRP/ARG	0,4406		0,0,2203	137	116	123		1342	4.6	1	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	448/635	20027301	1,13005	2203	4300	6503	TMCO4	SO:0001583	missense	0			-	HGNC		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1342C>T	1.37:g.20027301G>A	ENSP00000294543:p.Arg448Trp	Somatic	0	65	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP							pfam_DUF726,pfam_DUF900_hydrolase	p.R448W	ENST00000294543.6	37	c.1342	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144479	0.77888	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.53423	0.62;0.62;0.62	5.58	4.56	0.56223	.	0.254426	0.28349	N	0.015665	T	0.66117	0.2757	M	0.77486	2.375	0.35712	D	0.81645	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.978;0.977	T	0.74542	-0.3631	10	0.72032	D	0.01	-16.9222	10.7428	0.46162	0.0:0.0:0.6984:0.3016	.	32;448;408	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	W	448;448;408	ENSP00000294543:R448W;ENSP00000364269:R448W;ENSP00000364264:R408W	ENSP00000294543:R448W	R	-	1	2	TMCO4	19899888	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.895000	0.28363	2.806000	0.96561	0.655000	0.94253	CGG	-	pfam_DUF726,pfam_DUF900_hydrolase		0.567	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	protein_coding	OTTHUMT00000007658.1	G	NM_181719	rs144254063		20027301	-1	no_errors	ENST00000294543	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20027301	G	A	20027301	3	1	6	1	0	0	0	0	1	0	0	0	16005	1115	39	1	574	1	TMCO4	1	20027301	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09		20027301	229223320	1	236											
LRRC42	115353	genome.wustl.edu	37	chr1	54427720	54427720	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catctaggtaaccctgagatCacagatgcaggcattggata	10	9	2	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:54427720C>T	ENST00000371370.3	+	6	1259	c.738C>T	c.(736-738)atC>atT	p.I246I	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Silent_p.I246I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	246										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACCCTGAGATCACAGATGCAG	0.398																																																	0								ENSG00000116212						144	139	141					1																	54427720		2203	4300	6503	LRRC42	SO:0001819	synonymous_variant	0			-	HGNC	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.738C>T	1.37:g.54427720C>T		Somatic	0	90	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	108	27.03	D3DQ46|Q8N2Q8	Silent	SNP							NULL	p.I246	ENST00000371370.3	37	c.738	CCDS585.1	1																																																																																			-	NULL		0.398	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	protein_coding	OTTHUMT00000023250.1	C	NM_052940	-		54427720	1	no_errors	ENST00000319223	ensembl	human	known	74_37	silent	SNP	1.000	T	T	54427720	C	T	54427720	2	4	6	1	0	0	0	0	0	0	0	1	9002	816	29	2		2	LRRC42	1	54427720	Silent	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	34400419	54427720	194822901	2	237											
OR10T2	128360	genome.wustl.edu	37	chr1	158368465	158368465	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtctgaggcagacttGgacttgggccgcagatagat	13	9	1	4			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:158368465G>T	ENST00000334438.1	-	1	791	c.792C>A	c.(790-792)tcC>tcA	p.S264S		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGGCAGACTTGGACTTGGGCC	0.502																																																	0								ENSG00000186306						100	86	91					1																	158368465		2203	4300	6503	OR10T2	SO:0001819	synonymous_variant	0			-	HGNC	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.792C>A	1.37:g.158368465G>T		Somatic	0	63	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	Q6IF98	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264	ENST00000334438.1	37	c.792	CCDS30895.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	protein_coding	OTTHUMT00000046371.1	G	NM_001004475	-		158368465	-1	no_errors	ENST00000334438	ensembl	human	known	74_37	silent	SNP	0.882	T	T	158368465	G	T	158368465	2	4	6	1	0	0	0	0	0	0	0	1	10921	1335	47	3		3	OR10T2	1	158368465	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	103940745	158368465	90882156	3	238											
KCNT2	343450	genome.wustl.edu	37	chr1	196285118	196285118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatccacaaccaccatattaGcagcaaaagtcactccacac	3	15	1	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:196285118G>T	ENST00000294725.9	-	21	3302	c.2387C>A	c.(2386-2388)gCt>gAt	p.A796D	KCNT2_ENST00000609185.1_Missense_Mutation_p.A722D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.A772D|KCNT2_ENST00000367431.4_Missense_Mutation_p.A722D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	796					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)			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						CACCATATTAGCAGCAAAAGT	0.398																																																	0								ENSG00000162687						119	99	106					1																	196285118		2203	4299	6502	KCNT2	SO:0001583	missense	0			-	HGNC	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.2387C>A	1.37:g.196285118G>T	ENSP00000294725:p.Ala796Asp	Somatic	0	42	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.A796D	ENST00000294725.9	37	c.2387	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	7.755	0.704208	0.15172	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.74002	-0.8;-0.8;-0.8	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	T	0.53061	0.1773	N	0.04335	-0.225	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001	T	0.56044	-0.8044	10	0.02654	T	1	-11.7853	20.2245	0.98337	0.0:0.0:1.0:0.0	.	796;754;772;722;796	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	D	772;722;796	ENSP00000356403:A772D;ENSP00000356401:A722D;ENSP00000294725:A796D	ENSP00000294725:A796D	A	-	2	0	KCNT2	194551741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.078000	0.71282	2.770000	0.95276	0.650000	0.86243	GCT	-	NULL		0.398	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	G	NM_198503	-		196285118	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196285118	G	T	196285118	3	4	6	1	0	0	0	0	1	0	0	0	8094	971	34	3	1052	3	KCNT2	1	196285118	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	37916653	196285118	52965503	4	239											
MYBPH	4608	genome.wustl.edu	37	chr1	203144809	203144809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgggaggctctgctgtGggcaccttggcagattcaga	14	11	3	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:203144809G>A	ENST00000255416.4	-	1	132	c.75C>T	c.(73-75)ccC>ccT	p.P25P		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	25					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)		GCTCTGCTGTGGGCACCTTGG	0.632																																					NSCLC(32;174 1025 14462 23899 42933)												0								ENSG00000133055						92	108	102					1																	203144809		2203	4300	6503	MYBPH	SO:0001819	synonymous_variant	0			-	HGNC	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.75C>T	1.37:g.203144809G>A		Somatic	0	157	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	60	34.07	Q16886|Q86YC5	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P25	ENST00000255416.4	37	c.75	CCDS30975.1	1																																																																																			-	NULL		0.632	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	protein_coding	OTTHUMT00000100264.1	G	NM_004997	-		203144809	-1	no_errors	ENST00000255416	ensembl	human	known	74_37	silent	SNP	0.670	A	A	203144809	G	A	203144809	2	1	6	1	0	0	0	0	0	0	0	1	10016	1335	47	2		2	MYBPH	1	203144809	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	6859691	203144809	46105812	5	240											
CR2	1380	genome.wustl.edu	37	chr1	207649750	207649750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggaacctggagccaacctgCccctcattgtaaaggtgctt	11	12	1	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:207649750C>G	ENST00000367058.3	+	14	2900	c.2711C>G	c.(2710-2712)gCc>gGc	p.A904G	CR2_ENST00000367057.3_Missense_Mutation_p.A963G|CR2_ENST00000367059.3_Intron|CR2_ENST00000458541.2_Missense_Mutation_p.A877G	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	904	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGCCAACCTGCCCCTCATTGT	0.413																																																	0								ENSG00000117322						59	54	55					1																	207649750		2203	4300	6503	CR2	SO:0001583	missense	0			-	HGNC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2711C>G	1.37:g.207649750C>G	ENSP00000356025:p.Ala904Gly	Somatic	0	77	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A963G	ENST00000367058.3	37	c.2888	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374802	0.42105	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	T;T;T	0.65732	-0.17;-0.17;-0.17	4.87	-1.35	0.09114	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67496	0.2899	M	0.90145	3.09	0.09310	N	1	B;P	0.36616	0.368;0.561	B;P	0.45610	0.426;0.487	T	0.58973	-0.7541	9	0.29301	T	0.29	.	2.7925	0.05392	0.3329:0.3403:0.0:0.3268	.	904;963	P20023;P20023-3	CR2_HUMAN;.	G	904;963;877	ENSP00000356025:A904G;ENSP00000356024:A963G;ENSP00000404222:A877G	ENSP00000356024:A963G	A	+	2	0	CR2	205716373	0.000000	0.05858	0.033000	0.17914	0.855000	0.48748	-0.409000	0.07160	-0.027000	0.13873	0.655000	0.94253	GCC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	protein_coding	OTTHUMT00000088274.1	C	NM_001877	-		207649750	1	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	SNP	0.106	G	G	207649750	C	G	207649750	3	3	6	1	0	0	0	0	1	0	0	0	3844	739	26	4	2946	4	CR2	1	207649750	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	4504941	207649750	41600871	6	241											
URB2	9816	genome.wustl.edu	37	chr1	229787011	229787011	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagccatcccttctttcttGaactctttcaatagattggt	5	10	4	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:229787011G>T	ENST00000258243.2	+	8	4315	c.4179G>T	c.(4177-4179)ttG>ttT	p.L1393F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1393						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTTCTTTCTTGAACTCTTTCA	0.358																																																	0								ENSG00000135763						98	94	95					1																	229787011		2203	4300	6503	URB2	SO:0001583	missense	0			-	HGNC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4179G>T	1.37:g.229787011G>T	ENSP00000258243:p.Leu1393Phe	Somatic	0	100	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	Q5VYC9	Missense_Mutation	SNP							pfam_Urb2/Npa2_C	p.L1393F	ENST00000258243.2	37	c.4179	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660477	0.67586	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.49720	0.77;0.77	5.78	2.67	0.31697	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.117057	0.51477	D	0.000084	T	0.58764	0.2145	M	0.71581	2.175	0.51767	D	0.999935	D	0.76494	0.999	D	0.73380	0.98	T	0.57260	-0.7842	9	.	.	.	-4.8768	3.228	0.06739	0.1416:0.2509:0.476:0.1314	.	1393	Q14146	URB2_HUMAN	F	1393;9	ENSP00000258243:L1393F;ENSP00000395107:L9F	.	L	+	3	2	URB2	227853634	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	0.964000	0.29306	0.748000	0.32831	0.655000	0.94253	TTG	-	pfam_Urb2/Npa2_C		0.358	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	G	NM_014777	-		229787011	1	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	SNP	0.998	T	T	229787011	G	T	229787011	3	4	6	1	0	0	0	0	1	0	0	0	17032	1281	45	3	4205	3	URB2	1	229787011	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	22137261	229787011	19463610	7	242											
RGPD1	729857	genome.wustl.edu	37	chr2	88071786	88071786	+	Frame_Shift_Del	DEL	A	A	-													ctctctcactacctggcttcAagaaaatgaactgcagcaag							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:88071786delA	ENST00000398146.3	-	22	5360	c.5138delT	c.(5137-5139)ttgfs	p.L1713fs	RGPD2_ENST00000420840.2_Frame_Shift_Del_p.L1705fs|RGPD2_ENST00000327544.6_Frame_Shift_Del_p.L970fs			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1713	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						ACCTGGCTTCAAGAAAATGAA	0.443																																																	0								ENSG00000185304						1	1	1					2																	88071786		540	1381	1921	RGPD2	SO:0001589	frameshift_variant	0				HGNC		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5138delT	2.37:g.88071786delA	ENSP00000381214:p.Leu1713fs	Somatic	0	20	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	10	62.96	P0C839|Q68DN6|Q6V1X0	Frame_Shift_Del	DEL							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1713fs	ENST00000398146.3	37	c.5138	CCDS42710.2	2																																																																																			-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP		0.443	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	protein_coding	OTTHUMT00000330534.2	A	NM_001078170			88071786	-1	no_errors	ENST00000398146	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88071786	A	-	88071786	7	5	6	1	0	1	0	1	0	0	0	0	13293	131	5	0	5479	0	RGPD1	2	88071786	Frame_Shift_Del	DEL	A	TCGA-3B-A9HQ-01A-11D-A387-09		88071786	155127587	8	243											
ZAP70	7535	genome.wustl.edu	37	chr2	98351033	98351033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgcccatggacacgagcGtgtatgagagcccctacagc	12	13	0	1	rs200679935		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:98351033G>A	ENST00000264972.5	+	9	1155	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.V188M|ZAP70_ENST00000451498.2_Missense_Mutation_p.V7M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	314	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGACACGAGCGTGTATGAGAG	0.602																																																	0								ENSG00000115085						112	97	102					2																	98351033		2203	4300	6503	ZAP70	SO:0001583	missense	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.940G>A	2.37:g.98351033G>A	ENSP00000264972:p.Val314Met	Somatic	0	45	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	20.75	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V314M	ENST00000264972.5	37	c.940	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194446	0.38806	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.73258	-0.72;-0.72;-0.73	5.41	4.54	0.55810	Protein kinase-like domain (1);	0.000000	0.45126	D	0.000382	T	0.82019	0.4946	M	0.74258	2.255	0.38736	D	0.953779	D;D	0.89917	1.0;0.999	D;P	0.70716	0.97;0.893	D	0.85306	0.1076	10	0.72032	D	0.01	.	12.2436	0.54558	0.083:0.0:0.917:0.0	.	188;314	P43403-3;P43403	.;ZAP70_HUMAN	M	314;188;7	ENSP00000264972:V314M;ENSP00000411141:V188M;ENSP00000400475:V7M	ENSP00000264972:V314M	V	+	1	0	ZAP70	97717465	1.000000	0.71417	0.763000	0.31416	0.103000	0.19146	7.597000	0.82733	1.449000	0.47699	-0.136000	0.14681	GTG	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.602	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	G		rs200679935		98351033	1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	SNP	0.786	A	A	98351033	G	A	98351033	3	1	6	1	0	0	0	0	1	0	0	0	17521	1145	40	1	966	1	ZAP70	2	98351033	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	10279247	98351033	144848340	9	244											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125504848	125504848	+	Frame_Shift_Del	DEL	G	G	-													gattgggcggtccaatgaaaGgcacccttactggggaggtt							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:125504848delG	ENST00000431078.1	+	14	2481	c.2117delG	c.(2116-2118)aggfs	p.R706fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	706	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		TCCAATGAAAGGCACCCTTAC	0.547																																																	0								ENSG00000155052						100	100	100					2																	125504848		2024	4194	6218	CNTNAP5	SO:0001589	frameshift_variant	0				HGNC	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.2117delG	2.37:g.125504848delG	ENSP00000399013:p.Arg706fs	Somatic	0	62	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R706fs	ENST00000431078.1	37	c.2117	CCDS46401.1	2																																																																																			-	NULL		0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G				125504848	1	no_errors	ENST00000431078	ensembl	human	known	74_37	frame_shift_del	DEL	0.007	-	-	125504848	G	-	125504848	7	5	6	1	0	1	0	1	0	0	0	0	3652	1000	35	0	2171	0	CNTNAP5	2	125504848	Frame_Shift_Del	DEL	G	TCGA-3B-A9HQ-01A-11D-A387-09	27153815	125504848	117694525	10	245											
KYNU	8942	genome.wustl.edu	37	chr2	143743591	143743591	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccatacgattaaacctgcGtgagtaccatcttcagctaa	7	12	2	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:143743591G>C	ENST00000264170.4	+	10	1160		c.e10+1		KYNU_ENST00000375773.2_Splice_Site|KYNU_ENST00000409512.1_Splice_Site	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTAAACCTGCGTGAGTACCAT	0.328																																																	0								ENSG00000115919						70	69	69					2																	143743591		2203	4300	6503	KYNU	SO:0001630	splice_region_variant	0			-	HGNC	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.902+1G>C	2.37:g.143743591G>C		Somatic	0	63	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36		Splice_Site	SNP							-	e9+1	ENST00000264170.4	37	c.902+1	CCDS2183.1	2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676027	0.47886	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3412	0.90305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KYNU	143460061	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	4.686000	0.61700	2.772000	0.95346	0.650000	0.86243	.	-	-		0.328	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	protein_coding	OTTHUMT00000254772.1	G	NM_001032998	-	Intron	143743591	1	no_errors	ENST00000264170	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	143743591	G	C	143743591	5	2	6	1	0	0	0	0	0	0	1	0	8589	1159	40	4	937	4	KYNU	2	143743591	Splice_Site	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	18238743	143743591	99455782	11	246											
DNAH7	56171	genome.wustl.edu	37	chr2	196849355	196849355	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagctataaacaataCcttcatttccattagttctg	6	8	2	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:196849355C>A	ENST00000312428.6	-	15	1934		c.e15+1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAAACAATACCTTCATTTCC	0.333																																																	0								ENSG00000118997						115	106	109					2																	196849355		1834	4082	5916	DNAH7	SO:0001630	splice_region_variant	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1833+1G>T	2.37:g.196849355C>A		Somatic	0	57	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	39	42.65	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP							-	e15+1	ENST00000312428.6	37	c.1833+1	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980160	0.74474	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8919	0.92408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196557600	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.980000	0.70516	2.574000	0.86865	0.655000	0.94253	.	-	-		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-	Intron	196849355	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	196849355	C	A	196849355	5	1	6	1	0	0	0	0	0	0	1	0	4608	521	18	3	10444	3	DNAH7	2	196849355	Splice_Site	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	53105764	196849355	46350018	12	247											
SP110	3431	genome.wustl.edu	37	chr2	231036818	231036818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcatctgcctctccagggtCttagatacatgatggcactg	10	11	3	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:231036818C>G	ENST00000358662.4	-	16	1857	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.K593N|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000609120.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	593	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCCAGGGTCTTAGATACAT	0.517																																																	0								ENSG00000135899						163	152	155					2																	231036818		2203	4300	6503	SP110	SO:0001583	missense	0			-	HGNC	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1779G>C	2.37:g.231036818C>G	ENSP00000351488:p.Lys593Asn	Somatic	0	45	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP							pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.K593N	ENST00000358662.4	37	c.1779	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045964	0.19748	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.43294	0.96;0.95	3.42	2.53	0.30540	Bromodomain (2);	.	.	.	.	T	0.19765	0.0475	N	0.08118	0	0.09310	N	0.999997	B;B	0.34161	0.436;0.439	B;B	0.27380	0.057;0.079	T	0.09596	-1.0667	9	0.45353	T	0.12	.	7.2417	0.26100	0.0:0.8668:0.0:0.1332	.	593;593	Q9HB58;Q9HB58-6	SP110_HUMAN;.	N	593	ENSP00000258381:K593N;ENSP00000351488:K593N	ENSP00000258381:K593N	K	-	3	2	SP110	230745062	0.031000	0.19500	0.006000	0.13384	0.022000	0.10575	2.916000	0.48813	0.736000	0.32559	0.563000	0.77884	AAG	-	superfamily_Bromodomain		0.517	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	protein_coding	OTTHUMT00000332414.1	C	NM_080424	-		231036818	-1	no_errors	ENST00000258381	ensembl	human	known	74_37	missense	SNP	0.004	G	G	231036818	C	G	231036818	3	3	6	1	0	0	0	0	1	0	0	0	14969	912	32	4	378	4	SP110	2	231036818	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	34187463	231036818	12162555	13	248											
CHL1	10752	genome.wustl.edu	37	chr3	369953	369953	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaacgaggggcacataTctcactttcaagggaaatac	8	11	2	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr3:369953T>A	ENST00000256509.2	+	5	943	c.301T>A	c.(301-303)Tct>Act	p.S101T	CHL1_ENST00000397491.2_Missense_Mutation_p.S101T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	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)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGGGCACATATCTCACTTTCA	0.403																																																	0								ENSG00000134121						128	127	127					3																	369953		2203	4300	6503	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.301T>A	3.37:g.369953T>A	ENSP00000256509:p.Ser101Thr	Somatic	0	78	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S101T	ENST00000256509.2	37	c.301	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936064	0.34189	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.72051	1.11;1.11;-0.62	5.02	-5.22	0.02806	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.273852	0.34156	N	0.004207	T	0.44265	0.1285	N	0.13003	0.285	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.004	T	0.28396	-1.0045	10	0.35671	T	0.21	.	8.7513	0.34618	0.1532:0.0:0.4943:0.3524	.	101;101;101	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	101	ENSP00000256509:S101T;ENSP00000380628:S101T;ENSP00000397445:S101T	ENSP00000256509:S101T	S	+	1	0	CHL1	344953	0.782000	0.28689	0.603000	0.28903	0.991000	0.79684	0.397000	0.20883	-0.387000	0.07809	0.533000	0.62120	TCT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.403	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	T	NM_006614	-		369953	1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	0.037	A	A	369953	T	A	369953	3	1	6	1	0	0	0	0	1	0	0	0	3351	1435	50	5	311	5	CHL1	3	369953	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09		369953	197652477	14	249											
ACAD11	84129	genome.wustl.edu	37	chr3	132358496	132358496	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatattgctttgtccaggttGatacctaaagacatataaat	7	6	0	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr3:132358496G>T	ENST00000264990.6	-	5	1513	c.542C>A	c.(541-543)tCa>tAa	p.S181*	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Nonsense_Mutation_p.S181*|ACAD11_ENST00000481970.2_Nonsense_Mutation_p.S181*	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	181					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTCCAGGTTGATACCTAAAG	0.368																																																	0								ENSG00000240303						62	60	61					3																	132358496		2203	4300	6503	ACAD11	SO:0001587	stop_gained	0			-	HGNC	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.542C>A	3.37:g.132358496G>T	ENSP00000264990:p.Ser181*	Somatic	0	55	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Nonsense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.S181*	ENST00000264990.6	37	c.542	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759891	0.89932	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	.	.	.	5.76	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2412	0.31660	0.1515:0.0:0.7179:0.1306	.	.	.	.	X	181	.	ENSP00000264990:S181X	S	-	2	0	ACAD11	133841186	0.968000	0.33430	0.870000	0.34147	0.838000	0.47535	1.522000	0.35921	1.422000	0.47177	0.561000	0.74099	TCA	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.368	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	protein_coding	OTTHUMT00000357279.2	G	NM_032169	-		132358496	-1	no_errors	ENST00000264990	ensembl	human	known	74_37	nonsense	SNP	0.988	T	T	132358496	G	T	132358496	4	4	6	1	0	0	0	0	0	1	0	0	109	1294	45	3	1864	3	ACAD11	3	132358496	Nonsense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	131988543	132358496	65663934	15	250											
SLC7A14	57709	genome.wustl.edu	37	chr3	170198390	170198390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcaccgtgtgccccgTcgctgctgtgggccggtcca	15	14	1	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr3:170198390T>C	ENST00000231706.5	-	7	1996	c.1681A>G	c.(1681-1683)Acg>Gcg	p.T561A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	561					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTGTGCCCCGTCGCTGCTGTG	0.502																																																	0								ENSG00000013293						86	80	82					3																	170198390		2203	4300	6503	SLC7A14	SO:0001583	missense	0			-	HGNC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1681A>G	3.37:g.170198390T>C	ENSP00000231706:p.Thr561Ala	Somatic	0	41	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	13	59.38	B3KV33|Q9HCF9	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom	p.T561A	ENST00000231706.5	37	c.1681	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511880	0.44660	.	.	ENSG00000013293	ENST00000231706	D	0.88277	-2.36	5.6	5.6	0.85130	.	0.044070	0.85682	D	0.000000	D	0.87489	0.6190	L	0.54323	1.7	0.80722	D	1	P	0.41978	0.767	B	0.40940	0.344	D	0.87818	0.2636	10	0.48119	T	0.1	.	15.7748	0.78204	0.0:0.0:0.0:1.0	.	561	Q8TBB6	S7A14_HUMAN	A	561	ENSP00000231706:T561A	ENSP00000231706:T561A	T	-	1	0	SLC7A14	171681084	1.000000	0.71417	0.071000	0.20095	0.432000	0.31715	4.763000	0.62257	2.121000	0.65114	0.533000	0.62120	ACG	-	NULL		0.502	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	T	NM_020949	-		170198390	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	SNP	0.994	C	C	170198390	T	C	170198390	3	2	6	1	0	0	0	0	1	0	0	0	14704	1667	58	5	642	5	SLC7A14	3	170198390	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09	37839894	170198390	27824040	16	251											
PPP2R2C	5522	genome.wustl.edu	37	chr4	6349641	6349641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagggagcccttgctgctgCtgtagacgaagaggttgcag	16	9	0	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:6349641C>A	ENST00000382599.4	-	6	938	c.722G>T	c.(721-723)aGc>aTc	p.S241I	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.S234I|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.S241I|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.S224I|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.S234I|PPP2R2C_ENST00000314348.8_5'Flank			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	241					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGCTGCTGCTGTAGACGAA	0.612																																																	0								ENSG00000074211						180	131	148					4																	6349641		2203	4300	6503	PPP2R2C	SO:0001583	missense	0			-	HGNC	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.722G>T	4.37:g.6349641C>A	ENSP00000372042:p.Ser241Ile	Somatic	0	86	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.S241I	ENST00000382599.4	37	c.722		4	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610311	0.87258	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.84948	2.725	0.80722	D	1	P;D;P;P;P	0.58970	0.732;0.984;0.732;0.732;0.606	P;P;P;B;B	0.52554	0.522;0.702;0.522;0.399;0.295	T	0.62895	-0.6757	10	0.87932	D	0	-39.155	17.2337	0.86992	0.0:1.0:0.0:0.0	.	234;337;241;224;241	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	I	241;234;224;241;234	ENSP00000335083:S241I;ENSP00000423649:S234I;ENSP00000422374:S224I;ENSP00000372042:S241I;ENSP00000425247:S234I	ENSP00000335083:S241I	S	-	2	0	PPP2R2C	6400542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.672000	0.74477	2.606000	0.88127	0.561000	0.74099	AGC	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.612	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	protein_coding	OTTHUMT00000206889.2	C	NM_181876	-		6349641	-1	no_errors	ENST00000335585	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6349641	C	A	6349641	3	1	6	1	0	0	0	0	1	0	0	0	12391	797	28	3	637	3	PPP2R2C	4	6349641	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		6349641	184804635	17	252											
HS3ST1	9957	genome.wustl.edu	37	chr4	11401038	11401038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagttctgcatgtgcaCgtggtagaggctgcggttga	15	9	1	2	rs202015819		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:11401038C>T	ENST00000002596.5	-	2	1766	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	198					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						TGCATGTGCACGTGGTAGAGG	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		18698	0		0	False		,,,				2504	0																0								ENSG00000002587	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	60	56	57		592	2.4	1	4		57	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	198/308	11401038	1,13005	2203	4300	6503	HS3ST1	SO:0001583	missense	0			GMAF=0	HGNC	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.592G>A	4.37:g.11401038C>T	ENSP00000002596:p.Val198Met	Somatic	0	14	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00	B3KUA6|Q6PEY8	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V198M	ENST00000002596.5	37	c.592	CCDS3408.1	4	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.35	1.326398	0.24080	2.27E-4	0.0	ENSG00000002587	ENST00000002596	D	0.82255	-1.59	5.61	2.37	0.29283	Sulfotransferase domain (1);	1.002150	0.08039	N	0.994758	T	0.74898	0.3777	L	0.45352	1.415	0.36031	D	0.83941	D	0.54601	0.967	B	0.42319	0.383	T	0.72261	-0.4345	10	0.41790	T	0.15	.	3.822	0.08839	0.2057:0.3122:0.3951:0.087	.	198	O14792	HS3S1_HUMAN	M	198	ENSP00000002596:V198M	ENSP00000002596:V198M	V	-	1	0	HS3ST1	11010136	0.948000	0.32251	0.998000	0.56505	0.906000	0.53458	-0.011000	0.12721	0.784000	0.33661	0.655000	0.94253	GTG	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.597	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	protein_coding	OTTHUMT00000207073.3	C	NM_005114	rs202015819		11401038	-1	no_errors	ENST00000002596	ensembl	human	known	74_37	missense	SNP	0.949	T	T	11401038	C	T	11401038	3	4	6	1	0	0	0	0	1	0	0	0	7365	536	19	1	335	1	HS3ST1	4	11401038	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	5051397	11401038	179753238	18	253											
TEC	7006	genome.wustl.edu	37	chr4	48165756	48165756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgatttctttcccgttaCgtaattacttgggatatatc	7	7	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:48165756C>T	ENST00000381501.3	-	8	857	c.700G>A	c.(700-702)Gta>Ata	p.V234I		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	234	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V234I(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TTTCCCGTTACGTAATTACTT	0.279																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000135605						69	62	64					4																	48165756		2188	4269	6457	TEC	SO:0001583	missense	0			-	HGNC	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.700G>A	4.37:g.48165756C>T	ENSP00000370912:p.Val234Ile	Somatic	0	93	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	64	32.63	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.V234I	ENST00000381501.3	37	c.700	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719590	0.68844	.	.	ENSG00000135605	ENST00000381501	T	0.29142	1.58	5.69	5.69	0.88448	Src homology-3 domain (3);	0.129327	0.51477	D	0.000096	T	0.58878	0.2153	M	0.75447	2.3	0.48696	D	0.999698	D	0.89917	1.0	D	0.80764	0.994	T	0.59295	-0.7481	10	0.59425	D	0.04	.	19.7977	0.96492	0.0:1.0:0.0:0.0	.	234	P42680	TEC_HUMAN	I	234	ENSP00000370912:V234I	ENSP00000370912:V234I	V	-	1	0	TEC	47860513	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.626000	0.67777	2.692000	0.91855	0.491000	0.48974	GTA	-	pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.279	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	protein_coding	OTTHUMT00000250492.3	C		-		48165756	-1	no_errors	ENST00000381501	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48165756	C	T	48165756	3	4	6	1	0	0	0	0	1	0	0	0	15749	536	19	1	1239	1	TEC	4	48165756	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	36764718	48165756	142988520	19	254											
KIT	3815	genome.wustl.edu	37	chr4	55592080	55592080	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaaactcatctgggccaccGtttggaaagctagtggttca	10	10	3	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:55592080G>T	ENST00000288135.5	+	9	1501	c.1404G>T	c.(1402-1404)ccG>ccT	p.P468P		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	468	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.P468P(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)	CTGGGCCACCGTTTGGAAAGC	0.453		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																														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"	1	Substitution - coding silent(1)	central_nervous_system(1)						ENSG00000157404						111	101	104					4																	55592080		2203	4300	6503	KIT	SO:0001819	synonymous_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)	-	HGNC	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.1404G>T	4.37:g.55592080G>T		Somatic	0	40	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P468	ENST00000288135.5	37	c.1404	CCDS3496.1	4																																																																																			-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G		-		55592080	1	no_errors	ENST00000288135	ensembl	human	known	74_37	silent	SNP	0.004	T	T	55592080	G	T	55592080	2	4	6	1	0	0	0	0	0	0	0	1	8331	1132	40	3		3	KIT	4	55592080	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	7426324	55592080	135562196	20	255											
EPHA5	2044	genome.wustl.edu	37	chr4	66230840	66230840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttttcagtatagcctaCtttaagggttttgatagcca	8	7	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:66230840C>A	ENST00000273854.3	-	12	2731	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	EPHA5_ENST00000511294.1_Missense_Mutation_p.V712L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V689L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V548L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	711	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTATAGCCTACTTTAAGGGTT	0.388										TSP Lung(17;0.13)																																							0								ENSG00000145242						201	199	199					4																	66230840		2203	4300	6503	EPHA5	SO:0001583	missense	0			-	HGNC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2131G>T	4.37:g.66230840C>A	ENSP00000273854:p.Val711Leu	Somatic	0	112	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28	Q7Z3F2	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V711L	ENST00000273854.3	37	c.2131	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020449	0.75275	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.73187	0.3555	N	0.10945	0.07	0.53005	D	0.999963	B;B;B;B	0.24186	0.017;0.013;0.013;0.099	B;B;B;B	0.20955	0.032;0.021;0.014;0.024	T	0.69292	-0.5183	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	690;712;689;711	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	711;548;689;712	ENSP00000273854:V711L;ENSP00000389208:V548L;ENSP00000346899:V689L;ENSP00000427638:V712L	ENSP00000273854:V711L	V	-	1	0	EPHA5	65913435	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.042000	0.70996	2.834000	0.97654	0.650000	0.86243	GTA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	protein_coding	OTTHUMT00000251388.2	C	NM_004439	-		66230840	-1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66230840	C	A	66230840	3	1	6	1	0	0	0	0	1	0	0	0	5172	565	20	3	1010	3	EPHA5	4	66230840	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	10638760	66230840	124923436	21	256											
CENPC1	1060	genome.wustl.edu	37	chr4	68357896	68357896	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatcatgcctgatcttAcccatgagaataatctctct	5	11	5	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:68357896A>C	ENST00000273853.6	-	16	2766		c.e16+1			NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C						chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										GCCTGATCTTACCCATGAGAA	0.383																																																	0								ENSG00000145241						107	91	96					4																	68357896		1833	4086	5919	CENPC	SO:0001630	splice_region_variant	0			-	HGNC	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2515+1T>G	4.37:g.68357896A>C		Somatic	0	78	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	57	35.96	Q8IW27|Q9P0M5	Splice_Site	SNP							-	e16+2	ENST00000273853.6	37	c.2515+2	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587082	0.66105	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3065	0.49338	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPC1	68040491	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.625000	0.61262	2.235000	0.73313	0.460000	0.39030	.	-	-		0.383	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	protein_coding	OTTHUMT00000362001.2	A		-	Intron	68357896	-1	no_errors	ENST00000273853	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	68357896	A	C	68357896	5	2	6	1	0	0	0	0	0	0	1	0	3231	405	14	5	330	5	CENPC1	4	68357896	Splice_Site	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	2127056	68357896	122796380	22	257											
PKD2	5311	genome.wustl.edu	37	chr4	88929231	88929231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatggtggtggagatggacGtagagtggcgcccgggcagc	20	7	0	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:88929231G>T	ENST00000237596.2	+	1	412	c.346G>T	c.(346-348)Gta>Tta	p.V116L		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGAGATGGACGTAGAGTGGCG	0.736																																																	0								ENSG00000118762						3	3	3					4																	88929231		1576	3184	4760	PKD2	SO:0001583	missense	0			-	HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.346G>T	4.37:g.88929231G>T	ENSP00000237596:p.Val116Leu	Somatic	0	64	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP							pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.V116L	ENST00000237596.2	37	c.346	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	g	25.8	4.672354	0.88348	.	.	ENSG00000118762	ENST00000237596	T	0.64991	-0.13	3.22	3.22	0.36961	.	0.073216	0.56097	D	0.000040	T	0.43122	0.1233	L	0.27053	0.805	0.80722	D	1	B	0.33940	0.433	B	0.26614	0.071	T	0.35425	-0.9789	10	0.13470	T	0.59	-0.7903	14.1791	0.65562	0.0:0.0:1.0:0.0	.	116	Q13563	PKD2_HUMAN	L	116	ENSP00000237596:V116L	ENSP00000237596:V116L	V	+	1	0	PKD2	89148255	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	4.518000	0.60510	1.637000	0.50538	0.486000	0.48141	GTA	-	NULL		0.736	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	G	NM_000297	-		88929231	1	no_errors	ENST00000237596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88929231	G	T	88929231	3	4	6	1	0	0	0	0	1	0	0	0	11968	1145	40	3	348	3	PKD2	4	88929231	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	20571335	88929231	102225045	23	258											
MLF1IP	79682	genome.wustl.edu	37	chr4	185637744	185637744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtatcactttcttcaAtgctttcagagtcatcacta	4	11	6	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:185637744A>G	ENST00000281453.5	-	6	495	c.425T>C	c.(424-426)aTt>aCt	p.I142T	MLF1IP_ENST00000506535.1_5'Flank|MLF1IP_ENST00000541971.1_Missense_Mutation_p.I142T	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		ACTTTCTTCAATGCTTTCAGA	0.373																																																	0								ENSG00000151725						112	100	104					4																	185637744		2203	4300	6503	MLF1IP	SO:0001583	missense	0			-	HGNC																												ENST00000281453.5:c.425T>C	4.37:g.185637744A>G	ENSP00000281453:p.Ile142Thr	Somatic	0	81	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99		Missense_Mutation	SNP							NULL	p.I142T	ENST00000281453.5	37	c.425	CCDS3838.1	4	.	.	.	.	.	.	.	.	.	.	a	0.011	-1.733385	0.00687	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971;ENST00000514781	T;T;T	0.39056	2.67;2.67;1.1	4.06	-4.44	0.03557	.	2.287230	0.02124	N	0.055872	T	0.14700	0.0355	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42258	-0.9462	10	0.02654	T	1	-14.7721	9.6878	0.40109	0.1788:0.6338:0.1874:0.0	.	142;142	Q09GN1;Q71F23	.;CENPU_HUMAN	T	142;142;142;113	ENSP00000281453:I142T;ENSP00000445862:I142T;ENSP00000423167:I113T	ENSP00000281453:I142T	I	-	2	0	MLF1IP	185874738	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.706000	0.05047	-0.928000	0.03761	-0.394000	0.06481	ATT	-	NULL		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	protein_coding	OTTHUMT00000360841.2	A		-		185637744	-1	no_errors	ENST00000281453	ensembl	human	known	74_37	missense	SNP	0.000	G	G	185637744	A	G	185637744	3	3	6	1	0	0	0	0	1	0	0	0	9617	101	4	5	863	5	MLF1IP	4	185637744	Missense_Mutation	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	96708513	185637744	5516532	24	259											
CDH6	1004	genome.wustl.edu	37	chr5	31323298	31323298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggattccctgagctcGctggagtcagtgaccacgga	15	11	1	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:31323298G>A	ENST00000265071.2	+	12	2521	c.2256G>A	c.(2254-2256)tcG>tcA	p.S752S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	752					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCTGAGCTCGCTGGAGTCAG	0.532																																																	0								ENSG00000113361						55	51	52					5																	31323298		2203	4300	6503	CDH6	SO:0001819	synonymous_variant	0			-	HGNC	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2256G>A	5.37:g.31323298G>A		Somatic	0	56	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	32	52.24	A8K5H5|Q9BWS0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S752	ENST00000265071.2	37	c.2256	CCDS3894.1	5																																																																																			-	pfam_Cadherin_cytoplasmic-dom		0.532	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	protein_coding	OTTHUMT00000207355.2	G	NM_004932	-		31323298	1	no_errors	ENST00000265071	ensembl	human	known	74_37	silent	SNP	0.985	A	A	31323298	G	A	31323298	2	1	6	1	0	0	0	0	0	0	0	1	3116	1074	38	1		1	CDH6	5	31323298	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09		31323298	149591962	25	260											
STARD4	134429	genome.wustl.edu	37	chr5	110837715	110837715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagctgtcccaatccaaaCgacaaggccctgggcgtata	9	13	1	0	rs143239767	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:110837715C>T	ENST00000296632.3	-	4	361	c.227G>A	c.(226-228)cGt>cAt	p.R76H	STARD4_ENST00000512160.1_Intron|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000502322.1_Missense_Mutation_p.R76H|STARD4_ENST00000509887.1_Intron	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	76	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CCAATCCAAACGACAAGGCCC	0.393													C|||	2	0.000399361	0.0015	0	5008	,	,		18449	0		0	False		,,,				2504	0																0								ENSG00000164211	C	HIS/ARG	8,4396	14.3+/-33.2	0,8,2194	138	145	142		227	5.9	1	5	dbSNP_134	142	0,8600		0,0,4300	yes	missense	STARD4	NM_139164.1	29	0,8,6494	TT,TC,CC		0.0,0.1817,0.0615	probably-damaging	76/206	110837715	8,12996	2202	4300	6502	STARD4	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"StAR-related lipid transfer (START) domain containing"	18058	protein-coding gene	gene with protein product		607049	"START domain containing 4, sterol regulated"			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.227G>A	5.37:g.110837715C>T	ENSP00000296632:p.Arg76His	Somatic	0	72	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	60	53.85	Q86TN9	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.R76H	ENST00000296632.3	37	c.227	CCDS4104.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.8	4.464260	0.84425	0.001817	0.0	ENSG00000164211	ENST00000296632;ENST00000505803;ENST00000502322	T;T;T	0.54279	0.58;0.58;0.58	5.94	5.94	0.96194	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000002	T	0.59074	0.2167	M	0.76002	2.32	0.80722	D	1	P;D	0.54772	0.889;0.968	B;B	0.42495	0.243;0.389	T	0.63919	-0.6528	10	0.49607	T	0.09	-8.936	20.3501	0.98811	0.0:1.0:0.0:0.0	.	76;76	Q86TN9;Q96DR4	.;STAR4_HUMAN	H	76	ENSP00000296632:R76H;ENSP00000427478:R76H;ENSP00000427639:R76H	ENSP00000296632:R76H	R	-	2	0	STARD4	110865614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.031000	0.70911	2.821000	0.97095	0.655000	0.94253	CGT	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.393	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	protein_coding	OTTHUMT00000250720.1	C	NM_139164	rs143239767		110837715	-1	no_errors	ENST00000296632	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110837715	C	T	110837715	3	4	6	1	0	0	0	0	1	0	0	0	15266	536	19	1	402	1	STARD4	5	110837715	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	79514417	110837715	70077545	26	261											
SLC27A6	28965	genome.wustl.edu	37	chr5	128368839	128368839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattcaaactattgaagcAtcagttggtggaagatggat	10	5	2	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:128368839A>G	ENST00000262462.4	+	10	2734	c.1724A>G	c.(1723-1725)cAt>cGt	p.H575R	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H575R|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H575R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	575					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)		CTATTGAAGCATCAGTTGGTG	0.318																																																	0								ENSG00000113396						57	56	56					5																	128368839		2203	4294	6497	SLC27A6	SO:0001583	missense	0			-	HGNC	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.1724A>G	5.37:g.128368839A>G	ENSP00000262462:p.His575Arg	Somatic	0	69	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	113	20.42	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.H575R	ENST00000262462.4	37	c.1724	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	A	3.027	-0.200577	0.06219	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.39997	1.05;1.05;1.05	3.85	2.67	0.31697	.	0.325163	0.32918	N	0.005495	T	0.20577	0.0495	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	.	.	.	-2.1025	9.2852	0.37753	0.1819:0.0:0.0:0.8181	.	575	Q9Y2P4	S27A6_HUMAN	R	575	ENSP00000262462:H575R;ENSP00000378684:H575R;ENSP00000421024:H575R	.	H	+	2	0	SLC27A6	128396738	0.929000	0.31497	0.118000	0.21660	0.057000	0.15508	2.715000	0.47210	0.824000	0.34613	0.477000	0.44152	CAT	-	NULL		0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	protein_coding	OTTHUMT00000250980.1	A	NM_014031	-		128368839	1	no_errors	ENST00000262462	ensembl	human	known	74_37	missense	SNP	0.615	G	G	128368839	A	G	128368839	3	3	6	1	0	0	0	0	1	0	0	0	14538	217	8	5	1762	5	SLC27A6	5	128368839	Missense_Mutation	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	17531124	128368839	52546421	27	262											
LARP1	23367	genome.wustl.edu	37	chr5	154181828	154181828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcgccggcacccaggggggGaccgcacaggcaaccacacc	14	17	0	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:154181828G>T	ENST00000336314.4	+	11	1771	c.1747G>T	c.(1747-1749)Gac>Tac	p.D583Y		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	660					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGGGGGGACCGCACAGG	0.547																																																	0								ENSG00000155506						78	75	76					5																	154181828		2203	4300	6503	LARP1	SO:0001583	missense	0			-	HGNC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747G>T	5.37:g.154181828G>T	ENSP00000336721:p.Asp583Tyr	Somatic	0	46	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	48.39	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP							pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.D583Y	ENST00000336314.4	37	c.1747	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.137966	0.94517	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.60548	0.95;0.18;0.28	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.82486	-0.0433	10	0.87932	D	0	-28.5151	20.8794	0.99867	0.0:0.0:1.0:0.0	.	660;583	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Y	583;660;455	ENSP00000336721:D583Y;ENSP00000428589:D660Y;ENSP00000429904:D455Y	ENSP00000336721:D583Y	D	+	1	0	LARP1	154162021	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GAC	-	NULL		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	protein_coding	OTTHUMT00000252509.1	G	NM_033551	-		154181828	1	no_errors	ENST00000336314	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154181828	G	T	154181828	3	4	6	1	0	0	0	0	1	0	0	0	8630	1174	41	3	1789	3	LARP1	5	154181828	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	25812989	154181828	26733432	28	263											
CYFIP2	26999	genome.wustl.edu	37	chr5	156816277	156816277	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccatgttcgaggtcatcctGacccgcattcggagctacct	9	14	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:156816277G>T	ENST00000521420.1	+	28	3301	c.3210G>T	c.(3208-3210)ctG>ctT	p.L1070L	CYFIP2_ENST00000347377.6_Silent_p.L1096L|CYFIP2_ENST00000377576.3_Silent_p.L1096L|CYFIP2_ENST00000435847.2_Silent_p.L795L|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.L900L|CYFIP2_ENST00000318218.6_Silent_p.L1121L|CYFIP2_ENST00000541131.1_Silent_p.L1021L					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTCATCCTGACCCGCATTC	0.617																																																	0								ENSG00000055163						68	77	74					5																	156816277		2191	4291	6482	CYFIP2	SO:0001819	synonymous_variant	0			-	HGNC	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3210G>T	5.37:g.156816277G>T		Somatic	0	68	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		Silent	SNP							pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L1121	ENST00000521420.1	37	c.3363		5																																																																																			-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int		0.617	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	G	NM_001037332	-		156816277	1	no_errors	ENST00000318218	ensembl	human	known	74_37	silent	SNP	1.000	T	T	156816277	G	T	156816277	2	4	6	1	0	0	0	0	0	0	0	1	4140	1277	45	3		3	CYFIP2	5	156816277	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	2634449	156816277	24098983	29	264											
LRRC16A	55604	genome.wustl.edu	37	chr6	25510734	25510734	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttactctgattctttccaGgtttagaatctgacctatct	5	10	4	3			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:25510734G>T	ENST00000329474.6	+	19	1845		c.e19-1			NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTCTTTCCAGGTTTAGAATC	0.328																																																	0								ENSG00000079691						58	48	51					6																	25510734		1832	4047	5879	LRRC16A	SO:0001630	splice_region_variant	0			-	HGNC	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1478-1G>T	6.37:g.25510734G>T		Somatic	0	84	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Splice_Site	SNP							-	e19-1	ENST00000329474.6	37	c.1478-1	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662869	0.88251	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.745	0.96248	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC16A	25618713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.736000	0.93811	0.655000	0.94253	.	-	-		0.328	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	protein_coding	OTTHUMT00000040045.2	G	NM_017640	-	Intron	25510734	1	no_errors	ENST00000329474	ensembl	human	novel	74_37	splice_site	SNP	1.000	T	T	25510734	G	T	25510734	5	4	6	1	0	0	0	0	0	0	1	0	8973	1014	35	3	1551	3	LRRC16A	6	25510734	Splice_Site	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09		25510734	145604333	30	265											
DAAM2	23500	genome.wustl.edu	37	chr6	39855307	39855307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacctggcttcccgcaagGtcaaagagctgtcggtcatt	10	12	3	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:39855307G>T	ENST00000398904.2	+	16	2181	c.1999G>T	c.(1999-2001)Gtc>Ttc	p.V667F	RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V667F|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.V667F|RP11-61I13.3_ENST00000430595.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	667	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					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)					TTCCCGCAAGGTCAAAGAGCT	0.522																																																	0								ENSG00000146122						68	73	71					6																	39855307		1945	4138	6083	DAAM2	SO:0001583	missense	0			-	HGNC	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.1999G>T	6.37:g.39855307G>T	ENSP00000381876:p.Val667Phe	Somatic	0	48	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.V667F	ENST00000398904.2	37	c.1999	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650194	0.87958	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.47	5.47	0.80525	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.065972	0.64402	D	0.000012	T	0.36054	0.0953	M	0.79805	2.47	0.80722	D	1	D;D	0.67145	0.979;0.996	P;D	0.63033	0.704;0.91	T	0.13495	-1.0507	10	0.59425	D	0.04	.	18.4564	0.90722	0.0:0.0:1.0:0.0	.	667;667	G5EA45;Q86T65	.;DAAM2_HUMAN	F	667	ENSP00000274867:V667F;ENSP00000381876:V667F;ENSP00000437808:V667F	ENSP00000274867:V667F	V	+	1	0	DAAM2	39963285	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.649000	0.83500	2.728000	0.93425	0.655000	0.94253	GTC	-	pfam_FH2_Formin,smart_FH2_Formin		0.522	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	protein_coding	OTTHUMT00000280648.1	G		-		39855307	1	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39855307	G	T	39855307	3	4	6	1	0	0	0	0	1	0	0	0	4218	1261	44	3	2057	3	DAAM2	6	39855307	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	14344573	39855307	131259760	31	266											
IL17A	3605	genome.wustl.edu	37	chr6	52053855	52053855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttctcccctctgcagccGcaatgaggaccctgagagat	9	13	2	3			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:52053855G>A	ENST00000340057.1	+	3	278	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	78					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CTCTGCAGCCGCAATGAGGAC	0.493																																																	0								ENSG00000112115						40	40	40					6																	52053855		2203	4300	6503	IL17A	SO:0001583	missense	0			-	HGNC	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"Interleukins and interleukin receptors"	5981	protein-coding gene	gene with protein product	"cytotoxic T-lymphocyte-associated protein 8"	603149	"interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.233G>A	6.37:g.52053855G>A	ENSP00000344192:p.Arg78His	Somatic	0	50	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	Q5T2P0	Missense_Mutation	SNP							pfam_IL-17_fam,prints_IL-17_chr	p.R78H	ENST00000340057.1	37	c.233	CCDS4937.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025045	0.54683	.	.	ENSG00000112115	ENST00000340057	T	0.55413	0.52	5.64	0.119	0.14685	.	0.513598	0.19749	N	0.106959	T	0.40272	0.1110	M	0.62723	1.935	0.09310	N	1	D	0.59767	0.986	P	0.57846	0.828	T	0.13072	-1.0523	10	0.42905	T	0.14	-20.7789	3.2898	0.06945	0.0795:0.2062:0.2558:0.4585	.	78	Q16552	IL17_HUMAN	H	78	ENSP00000344192:R78H	ENSP00000344192:R78H	R	+	2	0	IL17A	52161814	0.076000	0.21285	0.965000	0.40720	0.737000	0.42083	1.497000	0.35649	0.677000	0.31305	0.609000	0.83330	CGC	-	pfam_IL-17_fam,prints_IL-17_chr		0.493	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17A	protein_coding	OTTHUMT00000040892.1	G	NM_002190	-		52053855	1	no_errors	ENST00000340057	ensembl	human	known	74_37	missense	SNP	0.024	A	A	52053855	G	A	52053855	3	1	6	1	0	0	0	0	1	0	0	0	7636	1087	38	1	243	1	IL17A	6	52053855	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	12198548	52053855	119061212	32	267											
FRK	2444	genome.wustl.edu	37	chr6	116289819	116289819	+	Frame_Shift_Del	DEL	A	A	-													cacaaattcgttcagtgttgAaaagattcttcttcgcgtga					rs142511122		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:116289819delA	ENST00000606080.1	-	3	996	c.550delT	c.(550-552)tcafs	p.S184fs	FRK_ENST00000538210.1_Frame_Shift_Del_p.S42fs	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTCAGTGTTGAAAAGATTCTT	0.413																																																	0								ENSG00000111816						159	151	154					6																	116289819		2203	4300	6503	FRK	SO:0001589	frameshift_variant	0				HGNC	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.550delT	6.37:g.116289819delA	ENSP00000476145:p.Ser184fs	Somatic	0	143	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	77	30.63	B4DY49|Q13128|Q9NTR5	Frame_Shift_Del	DEL							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.S184fs	ENST00000606080.1	37	c.550	CCDS5103.1	6																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.413	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	protein_coding	OTTHUMT00000041924.2	A	NM_002031			116289819	-1	no_errors	ENST00000606080	ensembl	human	known	74_37	frame_shift_del	DEL	0.020	-	-	116289819	A	-	116289819	7	5	6	1	0	1	0	1	0	0	0	0	6050	246	9	0	991	0	FRK	6	116289819	Frame_Shift_Del	DEL	A	TCGA-3B-A9HQ-01A-11D-A387-09	64235964	116289819	54825248	33	268	2	2									
FRK	2444	genome.wustl.edu	37	chr6	116289823	116289823	+	Silent	SNP	G	G	T													aattcgttcagtgttgaaaaGattcttcttcgcgtgagaaa							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:116289823G>T	ENST00000606080.1	-	3	992	c.546C>A	c.(544-546)atC>atA	p.I182I	FRK_ENST00000538210.1_Silent_p.I40I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	182	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTGTTGAAAAGATTCTTCTTC	0.408																																																	0								ENSG00000111816						158	150	153					6																	116289823		2203	4300	6503	FRK	SO:0001819	synonymous_variant	0			-	HGNC	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.546C>A	6.37:g.116289823G>T		Somatic	0	138	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	77	31.86	B4DY49|Q13128|Q9NTR5	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.I182	ENST00000606080.1	37	c.546	CCDS5103.1	6																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.408	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	protein_coding	OTTHUMT00000041924.2	G	NM_002031	-		116289823	-1	no_errors	ENST00000606080	ensembl	human	known	74_37	silent	SNP	0.017	T	T	116289823	G	T	116289823	2	4	6	1	0	0	0	0	0	0	0	1	6050	932	33	3		3	FRK	6	116289823	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	4	116289823	54825244	34	269	2	2									
EPHB6	2051	genome.wustl.edu	37	chr7	142562052	142562054	+	In_Frame_Del	DEL	CCT	CCT	-													tgcagcagacgagagctttcCctcctcctcctcctcctcct					rs8177142|rs372769362	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr7:142562052_142562054delCCT	ENST00000392957.2	+	7	1281_1283	c.494_496delCCT	c.(493-498)ccctcc>ccc	p.S176del	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_In_Frame_Del_p.S176del	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	176	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAGAGCTTTCcctcctcctcctc	0.626																																																	0								ENSG00000106123																																			EPHB6	SO:0001651	inframe_deletion	0				HGNC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.494_496delCCT	7.37:g.142562061_142562063delCCT	ENSP00000376684:p.Ser176del	Somatic	0	42	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	In_Frame_Del	DEL							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S169in_frame_del	ENST00000392957.2	37	c.494_496	CCDS5873.2	7																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.626	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	protein_coding	OTTHUMT00000341329.1	CCT				142562054	1	no_errors	ENST00000392957	ensembl	human	known	74_37	in_frame_del	DEL	0.978:0.949:0.908	-	-	142562054	CCT	-	142562052	7	5	6	1	0	1	0	1	0	0	0	0	5180	623	22	0	504	0	EPHB6	7	142562052	In_Frame_Del	DEL	CCT	TCGA-3B-A9HQ-01A-11D-A387-09		142562052	16576611	35	270											
OPRK1	4986	genome.wustl.edu	37	chr8	54163589	54163589	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggaagatctggatcggGgagtccatggtggggcgatt	18	8	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:54163589G>T	ENST00000265572.3	-	2	306	c.9C>A	c.(7-9)tcC>tcA	p.S3S	OPRK1_ENST00000520287.1_Silent_p.S3S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	3					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCTGGATCGGGGAGTCCATGG	0.711																																																	0								ENSG00000082556						6	9	8					8																	54163589		1954	4010	5964	OPRK1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.9C>A	8.37:g.54163589G>T		Somatic	0	28	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	E5RHC9|Q499G4	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S3	ENST00000265572.3	37	c.9	CCDS6152.1	8																																																																																			-	NULL		0.711	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	protein_coding	OTTHUMT00000378048.1	G		-		54163589	-1	no_errors	ENST00000265572	ensembl	human	known	74_37	silent	SNP	0.999	T	T	54163589	G	T	54163589	2	4	6	1	0	0	0	0	0	0	0	1	10887	1219	43	3		3	OPRK1	8	54163589	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09		54163589	92200433	36	271											
KCNB2	9312	genome.wustl.edu	37	chr8	73480416	73480416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaaaagaacaaatgaaCgaagaactgaggcgagaggc	11	6	0	5			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:73480416C>A	ENST00000523207.1	+	2	1035	c.447C>A	c.(445-447)aaC>aaA	p.N149K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	149					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AACAAATGAACGAAGAACTGA	0.458																																																	0								ENSG00000182674						123	130	128					8																	73480416		2203	4300	6503	KCNB2	SO:0001583	missense	0			-	HGNC	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.447C>A	8.37:g.73480416C>A	ENSP00000430846:p.Asn149Lys	Somatic	0	46	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	39	45.83	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.N149K	ENST00000523207.1	37	c.447	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137143	0.37728	.	.	ENSG00000182674	ENST00000523207	D	0.96885	-4.16	6.07	-6.46	0.01908	BTB/POZ fold (1);	0.713512	0.11975	U	0.511376	D	0.93148	0.7818	L	0.45137	1.4	0.29645	N	0.844401	B	0.23806	0.091	B	0.28784	0.094	T	0.76841	-0.2810	10	0.40728	T	0.16	.	17.6058	0.88037	0.0:0.3242:0.0:0.6758	.	149	Q92953	KCNB2_HUMAN	K	149	ENSP00000430846:N149K	ENSP00000430846:N149K	N	+	3	2	KCNB2	73642970	0.006000	0.16342	0.593000	0.28771	0.905000	0.53344	-1.092000	0.03366	-1.346000	0.02211	-0.794000	0.03295	AAC	-	NULL		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	protein_coding	OTTHUMT00000378998.1	C	NM_004770	-		73480416	1	no_errors	ENST00000523207	ensembl	human	known	74_37	missense	SNP	0.175	A	A	73480416	C	A	73480416	3	1	6	1	0	0	0	0	1	0	0	0	8015	535	19	3	449	3	KCNB2	8	73480416	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	19316827	73480416	72883606	37	272											
ZFPM2	23414	genome.wustl.edu	37	chr8	106815148	106815148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggcttgaaggtctttagTgaagctgctcagctcattgc	11	9	3	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:106815148T>G	ENST00000407775.2	+	8	3088	c.2838T>G	c.(2836-2838)agT>agG	p.S946R	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S677R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S814R|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S814R|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	946					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGTCTTTAGTGAAGCTGCTC	0.418																																																	0								ENSG00000169946						30	29	29					8																	106815148		1861	4095	5956	ZFPM2	SO:0001583	missense	0			-	HGNC	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2838T>G	8.37:g.106815148T>G	ENSP00000384179:p.Ser946Arg	Somatic	0	40	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S946R	ENST00000407775.2	37	c.2838	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	6.156	0.397040	0.11638	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.22945	1.93;2.42;2.42;3.62	5.76	-8.21	0.01041	.	0.175633	0.64402	D	0.000009	T	0.20740	0.0499	L	0.29908	0.895	0.42825	D	0.994006	D	0.56035	0.974	P	0.49140	0.601	T	0.49123	-0.8972	10	0.54805	T	0.06	.	16.2987	0.82793	0.0:0.4998:0.0:0.5002	.	946	Q8WW38	FOG2_HUMAN	R	946;814;814;677	ENSP00000384179:S946R;ENSP00000430757:S814R;ENSP00000428720:S814R;ENSP00000367733:S677R	ENSP00000367733:S677R	S	+	3	2	ZFPM2	106884324	0.005000	0.15991	0.199000	0.23439	0.315000	0.28087	-1.099000	0.03343	-2.008000	0.00955	-1.069000	0.02264	AGT	-	NULL		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	T		-		106815148	1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	SNP	0.499	G	G	106815148	T	G	106815148	3	3	6	1	0	0	0	0	1	0	0	0	17665	1693	59	5	2868	5	ZFPM2	8	106815148	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09	33334732	106815148	39548874	38	273											
ZHX2	22882	genome.wustl.edu	37	chr8	123965961	123965961	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaaggaccccaaaaagctCtgcgaagaggacttggagaa	11	9	1	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:123965961C>T	ENST00000314393.4	+	3	3046	c.2211C>T	c.(2209-2211)ctC>ctT	p.L737L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	737					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGCTCTGCGAAGAGG	0.532																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0								ENSG00000178764						94	99	98					8																	123965961		2203	4300	6503	ZHX2	SO:0001819	synonymous_variant	0			-	HGNC	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2211C>T	8.37:g.123965961C>T		Somatic	0	44	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47		Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L737	ENST00000314393.4	37	c.2211	CCDS6336.1	8																																																																																			-	NULL		0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	protein_coding	OTTHUMT00000381709.1	C	NM_014943	-		123965961	1	no_errors	ENST00000314393	ensembl	human	known	74_37	silent	SNP	0.990	T	T	123965961	C	T	123965961	2	4	6	1	0	0	0	0	0	0	0	1	17683	900	32	2		2	ZHX2	8	123965961	Silent	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	17150813	123965961	22398061	39	274											
COL22A1	169044	genome.wustl.edu	37	chr8	139707070	139707070	+	Splice_Site	DEL	G	G	-													ggggacacaagagactcaccGgttccccaggcaggcctgga							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:139707070delG	ENST00000303045.6	-	33	3091	c.2645delC	c.(2644-2646)ccg>cg	p.P882fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.P882fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	882	Collagen-like 7.|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)			GAGACTCACCGGTTCCCCAGG	0.602										HNSCC(7;0.00092)																																							0								ENSG00000169436						101	96	98					8																	139707070		2203	4300	6503	COL22A1	SO:0001630	splice_region_variant	0				HGNC	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.2646+1C>-	8.37:g.139707070delG		Somatic	0	56	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL							pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P882fs	ENST00000303045.6	37	c.2645	CCDS6376.1	8																																																																																			-	pfam_Collagen		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	G	XM_291257		Frame_Shift_Del	139707070	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	frame_shift_del	DEL	0.770	-	-	139707070	G	-	139707070	8	5	6	1	0	1	0	1	0	0	1	0	3683	1130	39	0	2367	0	COL22A1	8	139707070	Splice_Site	DEL	G	TCGA-3B-A9HQ-01A-11D-A387-09	15741109	139707070	6656952	40	275											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18826431	18826431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccaatcttcatggagagCtgactgagagcacccagctg	12	12	2	3	rs536763405		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:18826431C>T	ENST00000380548.4	+	22	4423	c.4084C>T	c.(4084-4086)Ctg>Ttg	p.L1362L	ADAMTSL1_ENST00000380545.5_Silent_p.L63L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1362	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		TCATGGAGAGCTGACTGAGAG	0.577													C|||	1	0.000199681	0	0	5008	,	,		17022	0		0	False		,,,				2504	0.001																0								ENSG00000178031						41	43	42					9																	18826431		2062	4218	6280	ADAMTSL1	SO:0001819	synonymous_variant	0			-	HGNC	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.4084C>T	9.37:g.18826431C>T		Somatic	0	32	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L63	ENST00000380548.4	37	c.187	CCDS47954.1	9																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.577	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	protein_coding	OTTHUMT00000401206.1	C		-		18826431	1	no_errors	ENST00000388710	ensembl	human	known	74_37	silent	SNP	1.000	T	T	18826431	C	T	18826431	2	4	6	1	0	0	0	0	0	0	0	1	274	796	28	2		2	ADAMTSL1	9	18826431	Silent	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		18826431	122387000	41	276											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88937339	88937339	+	Frame_Shift_Del	DEL	C	C	-													tttgaagtcttcaggacagtCcttctttagatgaccctctc							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:88937339delC	ENST00000375963.3	-	14	3101	c.2929delG	c.(2929-2931)gacfs	p.D977fs	ZCCHC6_ENST00000375957.1_5'Flank|ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.D266fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.D977fs|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	977					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCAGGACAGTCCTTCTTTAGA	0.403																																																	0								ENSG00000083223						125	124	124					9																	88937339		2203	4300	6503	ZCCHC6	SO:0001589	frameshift_variant	0				HGNC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2929delG	9.37:g.88937339delC	ENSP00000365130:p.Asp977fs	Somatic	0	96	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	44	40.54	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL							pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D977fs	ENST00000375963.3	37	c.2929	CCDS35057.1	9																																																																																			-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC		0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	protein_coding	OTTHUMT00000052918.1	C	NM_024617			88937339	-1	no_errors	ENST00000375963	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88937339	C	-	88937339	7	5	6	1	0	1	0	1	0	0	0	0	17599	855	30	0	1614	0	ZCCHC6	9	88937339	Frame_Shift_Del	DEL	C	TCGA-3B-A9HQ-01A-11D-A387-09	70110908	88937339	52276092	42	277											
C9orf3	84909	genome.wustl.edu	37	chr9	97522615	97522615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttgtttctgaggagttcAggaatcagattgtacgtgaa	13	5	3	3			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:97522615A>G	ENST00000375315.2	+	1	550	c.550A>G	c.(550-552)Agg>Ggg	p.R184G	C9orf3_ENST00000277198.2_Missense_Mutation_p.R184G|C9orf3_ENST00000297979.5_Missense_Mutation_p.R184G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	184					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGAGGAGTTCAGGAATCAGAT	0.493																																																	0								ENSG00000148120						107	99	102					9																	97522615		2203	4300	6503	C9orf3	SO:0001583	missense	0			-	HGNC	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.550A>G	9.37:g.97522615A>G	ENSP00000364464:p.Arg184Gly	Somatic	0	49	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP							pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.R184G	ENST00000375315.2	37	c.550	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129156	0.37533	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143	T;T;T;T;T	0.25250	2.61;2.59;2.8;1.81;2.37	4.82	3.65	0.41850	.	0.122077	0.53938	D	0.000044	T	0.29158	0.0725	M	0.62723	1.935	0.80722	D	1	P;D;B;D	0.57899	0.944;0.979;0.01;0.981	P;P;B;P	0.51657	0.476;0.631;0.007;0.676	T	0.17440	-1.0369	10	0.44086	T	0.13	-17.8645	0.9969	0.01469	0.496:0.1972:0.1177:0.1891	.	184;184;184;184	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	G	184;184;184;58;7	ENSP00000277198:R184G;ENSP00000297979:R184G;ENSP00000364464:R184G;ENSP00000387736:R58G;ENSP00000402171:R7G	ENSP00000277198:R184G	R	+	1	2	C9orf3	96562436	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.244000	0.43124	0.934000	0.37316	0.460000	0.39030	AGG	-	NULL		0.493	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	protein_coding		A	NM_032823	-		97522615	1	no_errors	ENST00000375315	ensembl	human	known	74_37	missense	SNP	0.998	G	G	97522615	A	G	97522615	3	3	6	1	0	0	0	0	1	0	0	0	2479	179	7	5	552	5	C9orf3	9	97522615	Missense_Mutation	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	8585276	97522615	43690816	43	278											
WDR31	114987	genome.wustl.edu	37	chr9	116079028	116079028	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgagtgtctcttggcCtcagaatgctgccacttcct	9	13	2	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:116079028C>T	ENST00000374193.4	-	0	1351				WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_3'UTR|WDR31_ENST00000341761.4_3'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTCTCTTGGCCTCAGAATGCT	0.502																																																	0								ENSG00000148225						166	147	153					9																	116079028		2203	4300	6503	WDR31	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.*1G>A	9.37:g.116079028C>T		Somatic	0	71	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5W0T9|Q96EG8	RNA	SNP							-	NULL	ENST00000374193.4	37	NULL	CCDS35110.1	9																																																																																			-	-		0.502	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	protein_coding	OTTHUMT00000053734.2	C	NM_145241	-		116079028	-1	no_errors	ENST00000461942	ensembl	human	known	74_37	rna	SNP	0.031	T	T	116079028	C	T	116079028	1	4	6	0	1	0	0	0	0	0	0	0	17293	696	24	2		2	WDR31	9	116079028	3'UTR	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	18556413	116079028	25134403	44	279											
OR1K1	392392	genome.wustl.edu	37	chr9	125562968	125562968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctcttaaggctctcGtgctctgacacccaccacat	6	17	3	1	rs149046653		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:125562968G>T	ENST00000277309.2	+	1	599	c.567G>T	c.(565-567)tcG>tcT	p.S189S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	189						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(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TAAGGCTCTCGTGCTCTGACA	0.592																																																	0								ENSG00000165204	G		0,4406		0,0,2203	112	91	98		567	-9	0	9	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR1K1	NM_080859.1		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		189/317	125562968	1,13005	2203	4300	6503	OR1K1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.567G>T	9.37:g.125562968G>T		Somatic	0	57	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B9EH41|Q4VXB7|Q96R23	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S189	ENST00000277309.2	37	c.567	CCDS35132.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.592	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1K1	protein_coding	OTTHUMT00000053958.1	G		rs149046653		125562968	1	no_errors	ENST00000277309	ensembl	human	known	74_37	silent	SNP	0.001	T	T	125562968	G	T	125562968	2	4	6	1	0	0	0	0	0	0	0	1	10964	1132	40	3		3	OR1K1	9	125562968	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	9483940	125562968	15650463	45	280											
KIAA0649	9858	genome.wustl.edu	37	chr9	138377398	138377398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgctgcaaggaggggaAagcgagtcatgagtgcggca	17	9	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:138377398A>G	ENST00000356818.2	+	4	1591	c.1042A>G	c.(1042-1044)Aag>Gag	p.K348E	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.K348E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K348E|PPP1R26_ENST00000605660.1_Missense_Mutation_p.K348E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K348E	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	348					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGGAGGGGAAAGCGAGTCAT	0.617																																																	0								ENSG00000196422						57	65	62					9																	138377398		2203	4300	6503	PPP1R26	SO:0001583	missense	0			-	HGNC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1042A>G	9.37:g.138377398A>G	ENSP00000349274:p.Lys348Glu	Somatic	0	58	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP							NULL	p.K348E	ENST00000356818.2	37	c.1042	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133753	0.37630	.	.	ENSG00000196422	ENST00000356818	T	0.10288	2.89	5.36	0.0272	0.14153	.	1.347700	0.04636	N	0.404552	T	0.12860	0.0312	L	0.53249	1.67	0.09310	N	1	B	0.16396	0.017	B	0.18871	0.023	T	0.38693	-0.9649	10	0.51188	T	0.08	-7.0677	7.1231	0.25456	0.4137:0.4265:0.1598:0.0	.	348	Q5T8A7	PPR26_HUMAN	E	348	ENSP00000349274:K348E	ENSP00000349274:K348E	K	+	1	0	KIAA0649	137517219	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.084000	0.11268	0.003000	0.14656	-0.274000	0.10170	AAG	-	NULL		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	protein_coding	OTTHUMT00000054987.1	A	NM_014811	-		138377398	1	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	SNP	0.000	G	G	138377398	A	G	138377398	3	3	6	1	0	0	0	0	1	0	0	0	8189	15	1	5	1044	5	KIAA0649	9	138377398	Missense_Mutation	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	12814430	138377398	2836033	46	281											
CCDC109A	90550	genome.wustl.edu	37	chr10	74644030	74644030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatttttttaggaatatGtttatccagaagccagagac	7	7	1	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:74644030G>T	ENST00000373053.3	+	7	889	c.868G>T	c.(868-870)Gtt>Ttt	p.V290F	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000536019.1_Missense_Mutation_p.V241F|MCU_ENST00000357157.6_Missense_Mutation_p.V269F	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	290					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TTAGGAATATGTTTATCCAGA	0.333																																																	0								ENSG00000156026						106	110	108					10																	74644030		2202	4299	6501	MCU	SO:0001583	missense	0			-	HGNC	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.868G>T	10.37:g.74644030G>T	ENSP00000362144:p.Val290Phe	Somatic	0	84	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP							pfam_Coiled-coil-dom_prot_109_C	p.V290F	ENST00000373053.3	37	c.868	CCDS7317.1	10	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413873	0.62511	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.30714	1.52;1.52;1.52	5.92	5.01	0.66863	Coiled-coil domain containing protein 109, C-terminal (1);	0.187422	0.46758	D	0.000268	T	0.34019	0.0883	L	0.46157	1.445	0.54753	D	0.999986	P;B;P	0.50066	0.931;0.419;0.627	P;B;P	0.48571	0.582;0.187;0.454	T	0.05131	-1.0904	10	0.72032	D	0.01	-13.2867	10.6977	0.45909	0.1414:0.0:0.8586:0.0	.	269;241;290	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	F	290;269;241	ENSP00000362144:V290F;ENSP00000349680:V269F;ENSP00000440913:V241F	ENSP00000349680:V269F	V	+	1	0	MCU	74314036	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.288000	0.43514	2.809000	0.96659	0.655000	0.94253	GTT	-	pfam_Coiled-coil-dom_prot_109_C		0.333	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCU	protein_coding	OTTHUMT00000048594.1	G	NM_138357	-		74644030	1	no_errors	ENST00000373053	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74644030	G	T	74644030	3	4	6	1	0	0	0	0	1	0	0	0	2746	1377	48	3	894	3	CCDC109A	10	74644030	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09		74644030	60890717	47	282											
PPRC1	23082	genome.wustl.edu	37	chr10	103898382	103898382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttctggagcagagcaggTtatctctggaggaccagaat	12	7	2	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:103898382T>A	ENST00000278070.2	+	3	388	c.349T>A	c.(349-351)Tta>Ata	p.L117I	PPRC1_ENST00000413464.2_Missense_Mutation_p.L117I|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	117					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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCAGAGCAGGTTATCTCTGGA	0.488																																																	0								ENSG00000148840						103	96	99					10																	103898382		2203	4300	6503	PPRC1	SO:0001583	missense	0			-	HGNC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.349T>A	10.37:g.103898382T>A	ENSP00000278070:p.Leu117Ile	Somatic	0	51	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L117I	ENST00000278070.2	37	c.349	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667147	0.47677	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.54866	0.55;0.55	4.97	-1.89	0.07689	.	0.220744	0.26750	N	0.022696	T	0.28234	0.0697	N	0.24115	0.695	0.18873	N	0.999989	P;P	0.44816	0.844;0.844	B;B	0.39904	0.313;0.313	T	0.22906	-1.0203	10	0.54805	T	0.06	.	2.2832	0.04120	0.1052:0.3072:0.1746:0.4131	.	117;117	E7EVG6;Q5VV67	.;PPRC1_HUMAN	I	117	ENSP00000278070:L117I;ENSP00000399743:L117I	ENSP00000278070:L117I	L	+	1	2	PPRC1	103888372	0.965000	0.33210	0.996000	0.52242	0.985000	0.73830	0.085000	0.14912	0.016000	0.14998	0.379000	0.24179	TTA	-	NULL		0.488	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	protein_coding	OTTHUMT00000050021.1	T	NM_015062	-		103898382	1	no_errors	ENST00000278070	ensembl	human	known	74_37	missense	SNP	0.354	A	A	103898382	T	A	103898382	3	1	6	1	0	0	0	0	1	0	0	0	12415	1722	60	5	359	5	PPRC1	10	103898382	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09	29254352	103898382	31636365	48	283											
DMBT1	1755	genome.wustl.edu	37	chr10	124336090	124336090	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggccatgtcagctccaggAaatgcctggtttggccaggg	15	10	1	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:124336090A>G	ENST00000338354.3	+	7	565	c.459A>G	c.(457-459)ggA>ggG	p.G153G	DMBT1_ENST00000344338.3_Silent_p.G153G|DMBT1_ENST00000368955.3_Silent_p.G153G|DMBT1_ENST00000359586.6_Silent_p.G153G|DMBT1_ENST00000368909.3_Silent_p.G153G|DMBT1_ENST00000330163.4_Silent_p.G153G|DMBT1_ENST00000368956.2_Silent_p.G153G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	153	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGCTCCAGGAAATGCCTGGT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)												0								ENSG00000187908						152	156	155					10																	124336090		2102	4250	6352	DMBT1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.459A>G	10.37:g.124336090A>G		Somatic	1	219	0.45		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	27	67.07	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP							pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.G153	ENST00000338354.3	37	c.459		10																																																																																			-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	A	NM_004406	-		124336090	1	no_errors	ENST00000338354	ensembl	human	known	74_37	silent	SNP	0.000	G	G	124336090	A	G	124336090	2	3	6	1	0	0	0	0	0	0	0	1	4579	233	9	5		5	DMBT1	10	124336090	Silent	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	20437708	124336090	11198657	49	284											
PWWP2B	170394	genome.wustl.edu	37	chr10	134219604	134219604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtctcgtggtttggttctCcgactacgtcgttcttgtct	11	10	4	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:134219604C>T	ENST00000305233.5	+	2	1659	c.1600C>T	c.(1600-1602)Ccg>Tcg	p.P534S	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	534	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GTTTGGTTCTCCGACTACGTC	0.483																																																	0								ENSG00000171813						181	183	182					10																	134219604		2202	4300	6502	PWWP2B	SO:0001583	missense	0			-	HGNC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1600C>T	10.37:g.134219604C>T	ENSP00000306324:p.Pro534Ser	Somatic	0	96	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP							pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.P534S	ENST00000305233.5	37	c.1600	CCDS7667.2	10	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174427	0.57692	.	.	ENSG00000171813	ENST00000305233	T	0.69561	-0.41	4.28	4.28	0.50868	PWWP (2);	0.000000	0.64402	U	0.000003	T	0.63165	0.2488	N	0.16233	0.39	0.80722	D	1	B	0.26577	0.153	B	0.43103	0.408	T	0.67821	-0.5571	10	0.72032	D	0.01	.	16.2808	0.82678	0.0:1.0:0.0:0.0	.	534	Q6NUJ5	PWP2B_HUMAN	S	534	ENSP00000306324:P534S	ENSP00000306324:P534S	P	+	1	0	PWWP2B	134069594	1.000000	0.71417	0.979000	0.43373	0.714000	0.41099	7.021000	0.76425	2.396000	0.81511	0.563000	0.77884	CCG	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.483	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2B	protein_coding	OTTHUMT00000051075.3	C	NM_138499	-		134219604	1	no_errors	ENST00000305233	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134219604	C	T	134219604	3	4	6	1	0	0	0	0	1	0	0	0	12854	855	30	2	1606	2	PWWP2B	10	134219604	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	9883514	134219604	1315143	50	285											
OR51E1	143503	genome.wustl.edu	37	chr11	4673791	4673791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatggcaatgaatccagtgCtacatacttcatcctaatag	6	10	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:4673791C>A	ENST00000530215.1	+	1	76	c.35C>A	c.(34-36)gCt>gAt	p.A12D	OR51E1_ENST00000396952.5_Missense_Mutation_p.A12D			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATCCAGTGCTACATACTTC	0.493																																																	0								ENSG00000180785						262	192	216					11																	4673791		2201	4298	6499	OR51E1	SO:0001583	missense	0			-	HGNC	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.35C>A	11.37:g.4673791C>A	ENSP00000431593:p.Ala12Asp	Somatic	0	67	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	39	35.00	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A12D	ENST00000530215.1	37	c.35		11	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319148	0.23994	.	.	ENSG00000180785	ENST00000396952;ENST00000530215	T;T	0.00325	8.1;8.1	4.74	2.84	0.33178	.	0.249489	0.28209	N	0.016195	T	0.00178	0.0005	L	0.34521	1.04	0.33700	D	0.614395	B	0.19583	0.037	B	0.20955	0.032	T	0.49224	-0.8962	10	0.72032	D	0.01	.	5.4137	0.16361	0.1597:0.6672:0.0:0.1731	.	11	Q8TCB6	O51E1_HUMAN	D	12	ENSP00000380155:A12D;ENSP00000431593:A12D	ENSP00000380155:A12D	A	+	2	0	OR51E1	4630367	0.049000	0.20398	0.744000	0.31058	0.402000	0.30811	2.310000	0.43708	0.587000	0.29643	0.563000	0.77884	GCT	-	NULL		0.493	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	OR51E1	protein_coding	OTTHUMT00000385957.1	C	NM_152430	-		4673791	1	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	SNP	0.749	A	A	4673791	C	A	4673791	3	1	6	1	0	0	0	0	1	0	0	0	11096	797	28	3	37	3	OR51E1	11	4673791	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		4673791	130332725	51	286											
OR5M10	390167	genome.wustl.edu	37	chr11	56344488	56344488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcacacgtagaaaagGctttgtgcctgccttcagca	12	10	1	1	rs535448751		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:56344488G>A	ENST00000526812.2	-	1	775	c.710C>T	c.(709-711)gCc>gTc	p.A237V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	237						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(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CGTAGAAAAGGCTTTGTGCCT	0.458																																																	0								ENSG00000254834						60	57	58					11																	56344488		1804	4034	5838	OR5M10	SO:0001583	missense	0			-	HGNC	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.710C>T	11.37:g.56344488G>A	ENSP00000436004:p.Ala237Val	Somatic	0	53	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	42.86	B9EIL9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237V	ENST00000526812.2	37	c.710	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625199	0.46840	.	.	ENSG00000254834	ENST00000526812	T	0.00342	8.03	4.2	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.86268	2.805	0.30426	N	0.777665	P	0.37398	0.593	P	0.47941	0.562	T	0.00752	-1.1581	9	0.66056	D	0.02	.	12.4252	0.55542	0.0:0.0:0.8304:0.1695	.	237	Q6IEU7	OR5MA_HUMAN	V	237	ENSP00000436004:A237V	ENSP00000436004:A237V	A	-	2	0	OR5M10	56101064	0.001000	0.12720	0.901000	0.35422	0.201000	0.24016	0.635000	0.24629	1.084000	0.41184	0.632000	0.83419	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	protein_coding	OTTHUMT00000391609.1	G	NM_001004741	-		56344488	-1	no_errors	ENST00000526812	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56344488	G	A	56344488	3	1	6	1	0	0	0	0	1	0	0	0	11175	1203	42	2	241	2	OR5M10	11	56344488	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	51670697	56344488	78662028	52	287											
OR10V1	390201	genome.wustl.edu	37	chr11	59480549	59480549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggacaagtatataaagCtggtgcagccatactgcagg	14	7	0	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:59480549C>T	ENST00000307552.2	-	1	788	c.770G>A	c.(769-771)aGc>aAc	p.S257N	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	257						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(3)|liver(1)|lung(10)|skin(1)	16						GTATATAAAGCTGGTGCAGCC	0.517																																																	0								ENSG00000172289						67	67	67					11																	59480549		2201	4295	6496	OR10V1	SO:0001583	missense	0			-	HGNC	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.770G>A	11.37:g.59480549C>T	ENSP00000302199:p.Ser257Asn	Somatic	0	48	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	9.76	Q6IFD9|Q96R50	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S257N	ENST00000307552.2	37	c.770	CCDS31565.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219824	0.58560	.	.	ENSG00000172289	ENST00000307552	T	0.37752	1.18	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.50735	0.1633	L	0.56280	1.765	0.25137	N	0.990525	D	0.76494	0.999	D	0.65140	0.932	T	0.37820	-0.9689	10	0.44086	T	0.13	.	13.0174	0.58766	0.0:1.0:0.0:0.0	.	257	Q8NGI7	O10V1_HUMAN	N	257	ENSP00000302199:S257N	ENSP00000302199:S257N	S	-	2	0	OR10V1	59237125	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	0.013000	0.13310	2.507000	0.84556	0.543000	0.68304	AGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10V1	protein_coding	OTTHUMT00000394517.1	C	NM_001005324	-		59480549	-1	no_errors	ENST00000307552	ensembl	human	known	74_37	missense	SNP	0.995	T	T	59480549	C	T	59480549	3	4	6	1	0	0	0	0	1	0	0	0	10922	797	28	2	163	2	OR10V1	11	59480549	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	3136061	59480549	75525967	53	288											
PYGM	5837	genome.wustl.edu	37	chr11	64525326	64525326	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacaggtagcgtgaactcGggccgggccttctcccaggg	15	13	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:64525326G>T	ENST00000164139.3	-	5	983	c.585C>A	c.(583-585)ccC>ccA	p.P195P	PYGM_ENST00000377432.3_Silent_p.P107P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	195					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGTGAACTCGGGCCGGGCCT	0.622																																																	0								ENSG00000068976						75	66	69					11																	64525326		2201	4297	6498	PYGM	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.585C>A	11.37:g.64525326G>T		Somatic	0	44	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A0AVK1|A6NDY6	Silent	SNP							pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.P195	ENST00000164139.3	37	c.585	CCDS8079.1	11																																																																																			-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	G	NM_005609	-		64525326	-1	no_errors	ENST00000164139	ensembl	human	known	74_37	silent	SNP	0.813	T	T	64525326	G	T	64525326	2	4	6	1	0	0	0	0	0	0	0	1	12870	1103	39	3		3	PYGM	11	64525326	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	5044777	64525326	70481190	54	289											
APLP2	334	genome.wustl.edu	37	chr11	129993506	129993506	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgaccattttcacacaGctgtctgctcccaggaggcg	9	14	3	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:129993506G>A	ENST00000263574.5	+	7	994		c.e7-1		APLP2_ENST00000278756.7_Splice_Site|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000543137.1_Splice_Site|APLP2_ENST00000338167.5_Splice_Site|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2						cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTTTCACACAGCTGTCTGCTC	0.592																																																	0								ENSG00000084234						53	51	52					11																	129993506		2201	4297	6498	APLP2	SO:0001630	splice_region_variant	0			-	HGNC	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.923-1G>A	11.37:g.129993506G>A		Somatic	0	51	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Splice_Site	SNP							-	e7-1	ENST00000263574.5	37	c.923-1	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996330	0.93167	.	.	ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2108	0.93753	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APLP2	129498716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.778000	0.95560	0.650000	0.86243	.	-	-		0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	protein_coding	OTTHUMT00000386109.1	G	NM_001642	-	Intron	129993506	1	no_errors	ENST00000263574	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	129993506	G	A	129993506	5	1	6	1	0	0	0	0	0	0	1	0	779	985	34	2	948	2	APLP2	11	129993506	Splice_Site	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	65468180	129993506	5013010	55	290											
M6PR	4074	genome.wustl.edu	37	chr12	9098969	9098969	+	Frame_Shift_Del	DEL	C	C	-													ccaggagtagtagtagcagtCcagtcctccagcagctgtag							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr12:9098969delC	ENST00000000412.3	-	2	500	c.32delG	c.(31-33)ggafs	p.G11fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	11					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TAGTAGCAGTCCAGTCCTCCA	0.493																																																	0								ENSG00000003056						94	92	93					12																	9098969		2203	4300	6503	M6PR	SO:0001589	frameshift_variant	0				HGNC		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.32delG	12.37:g.9098969delC	ENSP00000000412:p.Gly11fs	Somatic	0	81	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	A8K528|D3DUV5	Frame_Shift_Del	DEL							superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt	p.G11fs	ENST00000000412.3	37	c.32	CCDS8598.1	12																																																																																			-	NULL		0.493	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	M6PR	protein_coding	OTTHUMT00000399130.1	C				9098969	-1	no_errors	ENST00000000412	ensembl	human	known	74_37	frame_shift_del	DEL	0.055	-	-	9098969	C	-	9098969	7	5	6	1	0	1	0	1	0	0	0	0	9142	855	30	0	825	0	M6PR	12	9098969	Frame_Shift_Del	DEL	C	TCGA-3B-A9HQ-01A-11D-A387-09		9098969	124752926	56	291											
ESPL1	9700	genome.wustl.edu	37	chr12	53683327	53683327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggaatctggccacttcCcccagcctgaaaaggagagt	10	12	1	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr12:53683327C>T	ENST00000257934.4	+	22	5153	c.5062C>T	c.(5062-5064)Ccc>Tcc	p.P1688S	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1688S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1688					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGCCACTTCCCCCAGCCTGA	0.617																																					Colon(53;1069 1201 2587 5382)												0								ENSG00000135476						46	49	48					12																	53683327		2203	4300	6503	ESPL1	SO:0001583	missense	0			-	HGNC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5062C>T	12.37:g.53683327C>T	ENSP00000257934:p.Pro1688Ser	Somatic	0	68	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33		Missense_Mutation	SNP							pfam_Peptidase_C50,superfamily_DsrEFH-like	p.P1688S	ENST00000257934.4	37	c.5062	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478983	0.63849	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17213	2.29;2.29	5.26	5.26	0.73747	.	0.123552	0.53938	D	0.000041	T	0.29389	0.0732	L	0.34521	1.04	0.46437	D	0.999044	D	0.76494	0.999	D	0.66084	0.941	T	0.00915	-1.1516	10	0.72032	D	0.01	.	14.2504	0.66016	0.0:1.0:0.0:0.0	.	1688	Q14674	ESPL1_HUMAN	S	1688;1363;1688	ENSP00000257934:P1688S;ENSP00000449831:P1688S	ENSP00000257934:P1688S	P	+	1	0	ESPL1	51969594	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	3.191000	0.50981	2.735000	0.93741	0.563000	0.77884	CCC	-	NULL		0.617	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	C	NM_012291	-		53683327	1	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53683327	C	T	53683327	3	4	6	1	0	0	0	0	1	0	0	0	5255	623	22	2	5144	2	ESPL1	12	53683327	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	44584358	53683327	80168568	57	292											
SACS	26278	genome.wustl.edu	37	chr13	23910319	23910319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactggatgctgtctaggatCaaacacaaaacagatttctg	8	8	3	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr13:23910319C>T	ENST00000382292.3	-	9	7969	c.7696G>A	c.(7696-7698)Gat>Aat	p.D2566N	SACS_ENST00000402364.1_Missense_Mutation_p.D1816N|SACS_ENST00000382298.3_Missense_Mutation_p.D2566N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2566					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)		TGTCTAGGATCAAACACAAAA	0.403																																																	0								ENSG00000151835						107	109	108					13																	23910319		2203	4299	6502	SACS	SO:0001583	missense	0			-	HGNC	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.7696G>A	13.37:g.23910319C>T	ENSP00000371729:p.Asp2566Asn	Somatic	0	75	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	11	62.07	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D2566N	ENST00000382292.3	37	c.7696	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642228	0.87859	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.97752	-4.52;-4.52;-4.52	5.59	5.59	0.84812	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.78456	2.415	0.58432	D	0.999996	D	0.56521	0.976	P	0.61658	0.892	D	0.99297	1.0900	10	0.66056	D	0.02	.	19.592	0.95518	0.0:1.0:0.0:0.0	.	2566	Q9NZJ4	SACS_HUMAN	N	2566;1816;2566	ENSP00000371729:D2566N;ENSP00000385844:D1816N;ENSP00000371735:D2566N	ENSP00000371729:D2566N	D	-	1	0	SACS	22808319	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.484000	0.81180	2.629000	0.89072	0.462000	0.41574	GAT	-	superfamily_HATPase_ATP-bd		0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	C	NM_014363	-		23910319	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23910319	C	T	23910319	3	4	6	1	0	0	0	0	1	0	0	0	13812	826	29	2	6047	2	SACS	13	23910319	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		23910319	91259559	58	293											
FREM2	341640	genome.wustl.edu	37	chr13	39262454	39262456	+	In_Frame_Del	DEL	ATG	ATG	-													ccaagcccagtttcgtggccAtgatgatgatggaggtggac							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	ATG	ATG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr13:39262454_39262456delATG	ENST00000280481.7	+	1	1189_1191	c.973_975delATG	c.(973-975)atgdel	p.M328del		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	328					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)		TTTCGTGGCCATGATGATGATGG	0.586																																																	0								ENSG00000150893																																			FREM2	SO:0001651	inframe_deletion	0				HGNC	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.973_975delATG	13.37:g.39262463_39262465delATG	ENSP00000280481:p.Met328del	Somatic	0	62	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	In_Frame_Del	DEL							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.M328in_frame_del	ENST00000280481.7	37	c.973_975	CCDS31960.1	13																																																																																			-	NULL		0.586	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	ATG	NM_207361			39262456	1	no_errors	ENST00000280481	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	39262456	ATG	-	39262454	7	5	6	1	0	1	0	1	0	0	0	0	6047	217	8	0	975	0	FREM2	13	39262454	In_Frame_Del	DEL	ATG	TCGA-3B-A9HQ-01A-11D-A387-09	15352135	39262454	75907424	59	294											
FREM2	341640	genome.wustl.edu	37	chr13	39454452	39454452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaatggtatatacataCgatctatacagtgagatcga	9	7	1	2	rs114400765	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr13:39454452C>T	ENST00000280481.7	+	24	9254	c.9038C>T	c.(9037-9039)aCg>aTg	p.T3013M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3013					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)		TATATACATACGATCTATACA	0.423													C|||	4	0.000798722	0	0	5008	,	,		19109	0.001		0.001	False		,,,				2504	0.002																0								ENSG00000150893	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	88	86	87		9038	5.9	1	13	dbSNP_132	87	24,8576	17.3+/-56.4	0,24,4276	yes	missense	FREM2	NM_207361.4	81	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	probably-damaging	3013/3170	39454452	25,12981	2203	4300	6503	FREM2	SO:0001583	missense	0			GMAF=0	HGNC	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.9038C>T	13.37:g.39454452C>T	ENSP00000280481:p.Thr3013Met	Somatic	0	63	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	8	75.00	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.T3013M	ENST00000280481.7	37	c.9038	CCDS31960.1	13	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.5	4.748071	0.89663	2.27E-4	0.002791	ENSG00000150893	ENST00000280481	T	0.64618	-0.11	5.89	5.89	0.94794	.	0.105878	0.64402	D	0.000005	T	0.79173	0.4401	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	T	0.81464	-0.0921	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	3013	Q5SZK8	FREM2_HUMAN	M	3013	ENSP00000280481:T3013M	ENSP00000280481:T3013M	T	+	2	0	FREM2	38352452	1.000000	0.71417	0.951000	0.38953	0.614000	0.37383	7.593000	0.82686	2.797000	0.96272	0.563000	0.77884	ACG	-	NULL		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361	rs114400765		39454452	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39454452	C	T	39454452	3	4	6	1	0	0	0	0	1	0	0	0	6047	536	19	1	9132	1	FREM2	13	39454452	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	191998	39454452	75715426	60	295											
CLN6	54982	genome.wustl.edu	37	chr15	68504112	68504112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggttgacagagtcaccCaccaggtggatgctggcacc	14	12	1	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:68504112C>T	ENST00000249806.5	-	4	544	c.387G>A	c.(385-387)gtG>gtA	p.V129V	CLN6_ENST00000564752.1_Silent_p.V129V|CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Silent_p.V161V|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000418702.2_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	129					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGAGTCACCCACCAGGTGGA	0.597																																																	0								ENSG00000128973						125	118	120					15																	68504112		2200	4298	6498	CLN6	SO:0001819	synonymous_variant	0			-	HGNC	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.387G>A	15.37:g.68504112C>T		Somatic	0	40	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP							NULL	p.V129	ENST00000249806.5	37	c.387	CCDS10227.1	15																																																																																			-	NULL		0.597	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	protein_coding	OTTHUMT00000257066.1	C	NM_017882	-		68504112	-1	no_errors	ENST00000249806	ensembl	human	known	74_37	silent	SNP	1.000	T	T	68504112	C	T	68504112	2	4	6	1	0	0	0	0	0	0	0	1	3547	581	21	2		2	CLN6	15	68504112	Silent	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		68504112	34027280	61	296											
BNC1	646	genome.wustl.edu	37	chr15	83935620	83935620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacggatataatcctgaaGtgtccagtccaaggcatgga	10	10	0	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:83935620G>T	ENST00000345382.2	-	3	488	c.403C>A	c.(403-405)Ctt>Att	p.L135I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.L128I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	135					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TAATCCTGAAGTGTCCAGTCC	0.478																																																	0								ENSG00000169594						141	136	137					15																	83935620		2203	4300	6503	BNC1	SO:0001583	missense	0			-	HGNC	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.403C>A	15.37:g.83935620G>T	ENSP00000307041:p.Leu135Ile	Somatic	0	76	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	61	29.89	Q15840	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L135I	ENST00000345382.2	37	c.403	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.241420	0.95272	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03860	3.78	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.00007	-1.2500	10	0.66056	D	0.02	-20.5593	19.9142	0.97043	0.0:0.0:1.0:0.0	.	128;135	F5GY04;Q01954	.;BNC1_HUMAN	I	135;128	ENSP00000307041:L135I	ENSP00000307041:L135I	L	-	1	0	BNC1	81726624	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	7.691000	0.84191	2.941000	0.99782	0.655000	0.94253	CTT	-	NULL		0.478	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	protein_coding	OTTHUMT00000304006.1	G	NM_001717	-		83935620	-1	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83935620	G	T	83935620	3	4	6	1	0	0	0	0	1	0	0	0	1474	1029	36	3	2593	3	BNC1	15	83935620	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	15431508	83935620	18595772	62	297											
LRRK1	79705	genome.wustl.edu	37	chr15	101554525	101554525	+	Missense_Mutation	SNP	T	T	A													tccctctctctctcaggcccTcatgttcttgaggttacagg							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:101554525T>A	ENST00000388948.3	+	11	1783	c.1424T>A	c.(1423-1425)cTc>cAc	p.L475H	LRRK1_ENST00000284395.5_Missense_Mutation_p.L472H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCAGGCCCTCATGTTCTTG	0.547																																																	0								ENSG00000154237						83	89	87					15																	101554525		1930	4126	6056	LRRK1	SO:0001583	missense	0			-	HGNC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1424T>A	15.37:g.101554525T>A	ENSP00000373600:p.Leu475His	Somatic	0	35	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.L475H	ENST00000388948.3	37	c.1424	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866259	0.51588	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.81330	-1.48;-1.48	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000011	D	0.93236	0.7845	H	0.98351	4.21	0.48236	D	0.999617	D	0.89917	1.0	D	0.80764	0.994	D	0.94512	0.7719	10	0.44086	T	0.13	.	13.0194	0.58777	0.0:0.0:0.0:1.0	.	475	Q38SD2	LRRK1_HUMAN	H	475;472	ENSP00000373600:L475H;ENSP00000284395:L472H	ENSP00000284395:L472H	L	+	2	0	LRRK1	99372048	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	6.669000	0.74462	1.991000	0.58162	0.450000	0.29827	CTC	-	smart_Leu-rich_rpt_typical-subtyp		0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	T	NM_024652	-		101554525	1	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101554525	T	A	101554525	3	1	6	1	0	0	0	0	1	0	0	0	9034	1551	54	5	1462	5	LRRK1	15	101554525	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09	17618905	101554525	976867	63	298	3	2									
LRRK1	79705	genome.wustl.edu	37	chr15	101554526	101554526	+	Silent	SNP	C	C	T													ccctctctctctcaggccctCatgttcttgaggttacaggg							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:101554526C>T	ENST00000388948.3	+	11	1784	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	LRRK1_ENST00000284395.5_Silent_p.L472L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAGGCCCTCATGTTCTTGA	0.547																																																	0								ENSG00000154237						84	89	87					15																	101554526		1932	4124	6056	LRRK1	SO:0001819	synonymous_variant	0			-	HGNC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1425C>T	15.37:g.101554526C>T		Somatic	0	34	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.L475	ENST00000388948.3	37	c.1425	CCDS42086.1	15																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	C	NM_024652	-		101554526	1	no_errors	ENST00000388948	ensembl	human	known	74_37	silent	SNP	0.999	T	T	101554526	C	T	101554526	2	4	6	1	0	0	0	0	0	0	0	1	9034	813	29	2		2	LRRK1	15	101554526	Silent	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	1	101554526	976866	64	299	3	2									
PHKB	5257	genome.wustl.edu	37	chr16	47545604	47545606	+	In_Frame_Del	DEL	CAA	CAA	-													gtttaagcaggatccacgccCaacaacatgtcttcactctg					rs146558295	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	CAA	CAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr16:47545604_47545606delCAA	ENST00000323584.5	+	5	458_460	c.434_436delCAA	c.(433-438)ccaaca>cca	p.T147del	PHKB_ENST00000566044.1_In_Frame_Del_p.T140del|PHKB_ENST00000299167.8_In_Frame_Del_p.T147del|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_In_Frame_Del_p.T140del	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	147					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GATCCACGCCCAACAACATGTCT	0.33																																																	0								ENSG00000102893																																			PHKB	SO:0001651	inframe_deletion	0				HGNC		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.434_436delCAA	16.37:g.47545607_47545609delCAA	ENSP00000313504:p.Thr147del	Somatic	0	66	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	Q8N4T5	In_Frame_Del	DEL							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T147in_frame_del	ENST00000323584.5	37	c.434_436	CCDS10729.1	16																																																																																			-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.33	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	protein_coding	OTTHUMT00000430413.1	CAA				47545606	1	no_errors	ENST00000299167	ensembl	human	known	74_37	in_frame_del	DEL	1.000:0.977:0.982	-	-	47545606	CAA	-	47545604	7	5	6	1	0	1	0	1	0	0	0	0	11847	594	21	0	511	0	PHKB	16	47545604	In_Frame_Del	DEL	CAA	TCGA-3B-A9HQ-01A-11D-A387-09		47545604	42809149	65	300											
HP	3240	genome.wustl.edu	37	chr16	72093029	72093029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagtgtacaccttaaaCaatgagaagcagtggataaa	10	6	1	1	rs1140430|rs386791984	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr16:72093029C>A	ENST00000355906.5	+	6	442	c.384C>A	c.(382-384)aaC>aaA	p.N128K	HP_ENST00000570083.1_Missense_Mutation_p.N69K|HP_ENST00000398131.2_Missense_Mutation_p.N69K|HP_ENST00000562526.1_Missense_Mutation_p.N69K|HP_ENST00000565574.1_Intron|HP_ENST00000569639.1_Missense_Mutation_p.N69K|HP_ENST00000357763.4_Missense_Mutation_p.N164K|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	128	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACACCTTAAACAATGAGAAGC	0.473																																																	0								ENSG00000257017						120	128	126					16																	72093029		1743	4061	5804	HP	SO:0001583	missense	0			-	HGNC		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.384C>A	16.37:g.72093029C>A	ENSP00000348170:p.Asn128Lys	Somatic	0	107	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	58	27.50	B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N128K	ENST00000355906.5	37	c.384	CCDS45524.1	16	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334194	0.24253	.	.	ENSG00000257017	ENST00000355906;ENST00000398131	T;T	0.48522	0.81;0.81	4.24	3.29	0.37713	Complement control module (2);Sushi/SCR/CCP (2);	0.171894	0.40144	N	0.001169	T	0.58148	0.2102	M	0.62723	1.935	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.59857	-0.7375	10	0.66056	D	0.02	.	7.2724	0.26264	0.0:0.8817:0.0:0.1183	.	128	P00738	HPT_HUMAN	K	128;69	ENSP00000348170:N128K;ENSP00000381199:N69K	ENSP00000348170:N128K	N	+	3	2	HP	70650530	0.118000	0.22208	0.917000	0.36280	0.814000	0.46013	0.359000	0.20233	2.348000	0.79779	0.591000	0.81541	AAC	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.473	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	protein_coding	OTTHUMT00000421680.1	C	NM_005143	-		72093029	1	no_errors	ENST00000355906	ensembl	human	known	74_37	missense	SNP	0.879	A	A	72093029	C	A	72093029	3	1	6	1	0	0	0	0	1	0	0	0	7329	477	17	3	406	3	HP	16	72093029	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	24547425	72093029	18261724	66	301											
SERPINF2	5345	genome.wustl.edu	37	chr17	1657573	1657573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcccgcatgtccctgtcCtccttcagcgtgaaccgccc	8	18	1	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:1657573C>T	ENST00000324015.3	+	10	1298	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	SERPINF2_ENST00000450523.2_Silent_p.S343S|SERPINF2_ENST00000382061.4_Silent_p.S407S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	407					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TGTCCCTGTCCTCCTTCAGCG	0.652																																																	0								ENSG00000167711						149	123	132					17																	1657573		2203	4300	6503	SERPINF2	SO:0001819	synonymous_variant	0			-	HGNC	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1221C>T	17.37:g.1657573C>T		Somatic	0	63	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	8	75.76	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S407	ENST00000324015.3	37	c.1221	CCDS11011.1	17																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.652	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	protein_coding	OTTHUMT00000207078.3	C	NM_000934	-		1657573	1	no_errors	ENST00000324015	ensembl	human	known	74_37	silent	SNP	0.066	T	T	1657573	C	T	1657573	2	4	6	1	0	0	0	0	0	0	0	1	14123	668	24	2		2	SERPINF2	17	1657573	Silent	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		1657573	79537637	67	302											
TP53	7157	genome.wustl.edu	37	chr17	7578369	7578369	+	Splice_Site	DEL	A	A	-													ctctccagccccagctgctcAccatcgctatctgagcagcg							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:7578369delA	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_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.?(17)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CCAGCTGCTCACCATCGCTAT	0.632		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	31	Unknown(17)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	liver(8)|upper_aerodigestive_tract(7)|bone(4)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)						ENSG00000141510						47	46	46					17																	7578369		2203	4300	6503	TP53	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;		HGNC	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.559+1T>-	17.37:g.7578369delA		Somatic	0	37	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	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	DEL							-	e4+2	ENST00000269305.4	37	c.559+2	CCDS11118.1	17																																																																																			-	-		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		Intron	7578369	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	7578369	A	-	7578369	8	5	6	1	0	1	0	1	0	0	1	0	16388	173	6	0	737	0	TP53	17	7578369	Splice_Site	DEL	A	TCGA-3B-A9HQ-01A-11D-A387-09	5920796	7578369	73616841	68	303											
CD300LB	124599	genome.wustl.edu	37	chr17	72527588	72527588	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgagctctggcttgcAccttctgcacatctagaccg	9	15	3	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:72527588A>C	ENST00000392621.1	-	1	17	c.13T>G	c.(13-15)Tgc>Ggc	p.C5G	CD300LB_ENST00000314401.3_Missense_Mutation_p.C5G	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCTGGCTTGCACCTTCTGCAC	0.488																																																	0								ENSG00000178789						79	71	74					17																	72527588		2203	4300	6503	CD300LB	SO:0001583	missense	0			-	HGNC	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.13T>G	17.37:g.72527588A>C	ENSP00000376397:p.Cys5Gly	Somatic	0	91	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C5G	ENST00000392621.1	37	c.13	CCDS11700.1	17	.	.	.	.	.	.	.	.	.	.	A	5.242	0.230130	0.09969	.	.	ENSG00000178789	ENST00000314401	T	0.05447	3.44	3.94	-5.63	0.02474	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.45818	-0.9235	9	0.09843	T	0.71	.	0.8166	0.01103	0.2502:0.2646:0.2989:0.1863	.	5	B4DQ71	.	G	5	ENSP00000317337:C5G	ENSP00000317337:C5G	C	-	1	0	CD300LB	70039183	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.823000	0.04443	-1.435000	0.01972	0.383000	0.25322	TGC	-	NULL		0.488	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300LB	protein_coding	OTTHUMT00000145082.2	A	NM_174892	-		72527588	-1	no_errors	ENST00000392621	ensembl	human	known	74_37	missense	SNP	0.000	C	C	72527588	A	C	72527588	3	2	6	1	0	0	0	0	1	0	0	0	3001	159	6	5	719	5	CD300LB	17	72527588	Missense_Mutation	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09	64949219	72527588	8667622	69	304											
OTOP3	347741	genome.wustl.edu	37	chr17	72943417	72943417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggcctggcaggaaagcaGgaggctgagcctccccgcag	17	12	0	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:72943417G>T	ENST00000328801.4	+	6	1467	c.1467G>T	c.(1465-1467)caG>caT	p.Q489H		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	489						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CAGGAAAGCAGGAGGCTGAGC	0.647																																																	0								ENSG00000182938						26	27	27					17																	72943417		2203	4300	6503	OTOP3	SO:0001583	missense	0			-	HGNC	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1467G>T	17.37:g.72943417G>T	ENSP00000328090:p.Gln489His	Somatic	0	62	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Missense_Mutation	SNP							pfam_Otopetrin	p.Q489H	ENST00000328801.4	37	c.1467	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	2.263	-0.368802	0.05069	.	.	ENSG00000182938	ENST00000328801	T	0.08634	3.07	4.02	-3.46	0.04767	.	3.373660	0.00859	N	0.001915	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.41395	-0.9511	10	0.49607	T	0.09	0.9626	7.9648	0.30091	0.4816:0.1072:0.4112:0.0	.	489	Q7RTS5	OTOP3_HUMAN	H	489	ENSP00000328090:Q489H	ENSP00000328090:Q489H	Q	+	3	2	OTOP3	70455012	0.000000	0.05858	0.008000	0.14137	0.094000	0.18550	-1.124000	0.03260	-0.534000	0.06315	-0.379000	0.06801	CAG	-	NULL		0.647	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	protein_coding	OTTHUMT00000445308.1	G	NM_178233	-		72943417	1	no_errors	ENST00000328801	ensembl	human	known	74_37	missense	SNP	0.000	T	T	72943417	G	T	72943417	3	4	6	1	0	0	0	0	1	0	0	0	11309	991	35	3	1489	3	OTOP3	17	72943417	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	415829	72943417	8251793	70	305											
QRICH2	84074	genome.wustl.edu	37	chr17	74287496	74287496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatacattgaatcatgactGtcaaagagagagaaagcatg	11	5	2	4			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:74287496G>T	ENST00000262765.5	-	4	2993	c.2814C>A	c.(2812-2814)gaC>gaA	p.D938E		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	938										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						AATCATGACTGTCAAAGAGAG	0.517																																																	0								ENSG00000129646						91	62	72					17																	74287496		2203	4300	6503	QRICH2	SO:0001583	missense	0			-	HGNC	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.2814C>A	17.37:g.74287496G>T	ENSP00000262765:p.Asp938Glu	Somatic	0	39	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A2RRE1|Q96LM3	Missense_Mutation	SNP							NULL	p.D938E	ENST00000262765.5	37	c.2814	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	6.219	0.408582	0.11812	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.10477	2.87	4.23	-0.833	0.10782	.	.	.	.	.	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.14578	0.011;0.007	T	0.44697	-0.9311	9	0.02654	T	1	.	6.7309	0.23383	0.0:0.3077:0.3445:0.3478	.	938;938	B5MD94;Q9H0J4	.;QRIC2_HUMAN	E	938	ENSP00000262765:D938E	ENSP00000262765:D938E	D	-	3	2	QRICH2	71799091	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.108000	0.15396	-0.324000	0.08589	0.491000	0.48974	GAC	-	NULL		0.517	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	G	NM_032134	-		74287496	-1	no_errors	ENST00000262765	ensembl	human	known	74_37	missense	SNP	0.000	T	T	74287496	G	T	74287496	3	4	6	1	0	0	0	0	1	0	0	0	12888	1368	48	3	2241	3	QRICH2	17	74287496	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	1344079	74287496	6907714	71	306											
SF3A2	8175	genome.wustl.edu	37	chr19	2248202	2248202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcccccggagtccAcccaccagcccctggggttc	9	22	0	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr19:2248202A>G	ENST00000221494.5	+	9	1470	c.1052A>G	c.(1051-1053)cAc>cGc	p.H351R	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	351	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		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)		CCCGGAGTCCACCCACCAGCC	0.746																																																	0								ENSG00000104897						2	3	2					19																	2248202		1384	3121	4505	SF3A2	SO:0001583	missense	0			-	HGNC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1052A>G	19.37:g.2248202A>G	ENSP00000221494:p.His351Arg	Somatic	0	20	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	B2RBU1|D6W605|O75245	Missense_Mutation	SNP							smart_Znf_U1,pfscan_Znf_C2H2_matrin	p.H351R	ENST00000221494.5	37	c.1052	CCDS12084.1	19	.	.	.	.	.	.	.	.	.	.	A	7.277	0.608326	0.14002	.	.	ENSG00000104897	ENST00000221494	T	0.41065	1.01	4.87	3.78	0.43462	.	0.137270	0.31461	U	0.007605	T	0.23492	0.0568	N	0.19112	0.55	0.09310	N	1	B	0.33073	0.396	B	0.26310	0.068	T	0.13045	-1.0524	10	0.40728	T	0.16	-21.7502	8.6324	0.33928	0.664:0.336:0.0:0.0	.	351	Q15428	SF3A2_HUMAN	R	351	ENSP00000221494:H351R	ENSP00000221494:H351R	H	+	2	0	SF3A2	2199202	0.000000	0.05858	0.053000	0.19242	0.061000	0.15899	-0.040000	0.12104	1.819000	0.53055	0.459000	0.35465	CAC	-	NULL		0.746	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A2	protein_coding	OTTHUMT00000451268.3	A		-		2248202	1	no_errors	ENST00000221494	ensembl	human	known	74_37	missense	SNP	0.009	G	G	2248202	A	G	2248202	3	3	6	1	0	0	0	0	1	0	0	0	14155	159	6	5	1082	5	SF3A2	19	2248202	Missense_Mutation	SNP	A	TCGA-3B-A9HQ-01A-11D-A387-09		2248202	56880781	72	307											
ANKRD24	170961	genome.wustl.edu	37	chr19	4216723	4216723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaggtccccagagaagaGggggcagcctgtggggagag	20	8	0	4			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr19:4216723G>A	ENST00000600132.1	+	18	1842	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	ANKRD24_ENST00000318934.4_Silent_p.E522E|ANKRD24_ENST00000262970.5_Silent_p.E612E	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	522										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)		CCAGAGAAGAGGGGGCAGCCT	0.622																																																	0								ENSG00000089847						18	22	20					19																	4216723		2022	4167	6189	ANKRD24	SO:0001819	synonymous_variant	0			-	HGNC	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.1566G>A	19.37:g.4216723G>A		Somatic	0	27	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	O75268|O95781	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E522	ENST00000600132.1	37	c.1566	CCDS45925.1	19																																																																																			-	NULL		0.622	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	protein_coding	OTTHUMT00000458188.1	G	XM_114000	-		4216723	1	no_errors	ENST00000318934	ensembl	human	known	74_37	silent	SNP	0.015	A	A	4216723	G	A	4216723	2	1	6	1	0	0	0	0	0	0	0	1	653	991	35	2		2	ANKRD24	19	4216723	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	1968521	4216723	54912260	73	308											
SPTBN4	57731	genome.wustl.edu	37	chr19	40978532	40978532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcaccttccccgatgGcgcaggtaccaggggaagtg	14	13	1	0			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr19:40978532G>A	ENST00000352632.3	+	2	90	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCGATGGCGCAGGTACC	0.592																																																	0								ENSG00000160460						48	35	40					19																	40978532		2203	4300	6503	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4G>A	19.37:g.40978532G>A	ENSP00000263373:p.Ala2Thr	Somatic	0	93	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2T	ENST00000352632.3	37	c.4	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284168	0.40394	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80123	-1.34;-1.26;-1.31	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	T	0.81399	0.4814	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.75525	-0.3287	10	0.12766	T	0.61	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	T	2	ENSP00000263373:A2T;ENSP00000340345:A2T;ENSP00000340741:A2T	ENSP00000340345:A2T	A	+	1	0	SPTBN4	45670372	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	4.641000	0.61375	2.793000	0.96121	0.655000	0.94253	GCG	-	pirsf_Spectrin_bsu		0.592	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		40978532	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40978532	G	A	40978532	3	1	6	1	0	0	0	0	1	0	0	0	15128	1203	42	2	6	2	SPTBN4	19	40978532	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	36761809	40978532	18150451	74	309											
SLC17A7	57030	genome.wustl.edu	37	chr19	49934335	49934335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgacagtgtgcccacgccGttggagatgcccatgaggat	13	13	0	2			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr19:49934335G>T	ENST00000221485.3	-	11	1497	c.1326C>A	c.(1324-1326)aaC>aaA	p.N442K	SLC17A7_ENST00000543531.1_Missense_Mutation_p.N430K|SLC17A7_ENST00000600601.1_Missense_Mutation_p.N375K	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	442					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)		TGCCCACGCCGTTGGAGATGC	0.622																																																	0								ENSG00000104888						89	72	78					19																	49934335		2203	4300	6503	SLC17A7	SO:0001583	missense	0			-	HGNC	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.1326C>A	19.37:g.49934335G>T	ENSP00000221485:p.Asn442Lys	Somatic	0	34	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N442K	ENST00000221485.3	37	c.1326	CCDS12764.1	19	.	.	.	.	.	.	.	.	.	.	g	14.37	2.515946	0.44763	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59502	0.26;0.26	4.38	-0.242	0.13039	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.175836	0.36972	N	0.002316	T	0.77274	0.4106	H	0.96239	3.79	0.53688	D	0.999973	D;D	0.76494	0.997;0.999	D;D	0.75020	0.977;0.985	T	0.73135	-0.4078	10	0.87932	D	0	.	4.3645	0.11218	0.2787:0.0:0.5632:0.1581	.	442;284	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	K	442;430	ENSP00000221485:N442K;ENSP00000441767:N430K	ENSP00000221485:N442K	N	-	3	2	SLC17A7	54626147	0.984000	0.35163	0.979000	0.43373	0.127000	0.20565	0.138000	0.16016	-0.011000	0.14247	-1.175000	0.01729	AAC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.622	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	protein_coding	OTTHUMT00000465367.2	G		-		49934335	-1	no_errors	ENST00000221485	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49934335	G	T	49934335	3	4	6	1	0	0	0	0	1	0	0	0	14430	1136	40	3	364	3	SLC17A7	19	49934335	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	8955803	49934335	9194648	75	310											
ANGPT4	51378	genome.wustl.edu	37	chr20	896733	896733	+	Missense_Mutation	SNP	T	T	G													gcaagaaggtgtagctacagTggccgtgctggactacaagt							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr20:896733T>G	ENST00000381922.3	-	1	227	c.125A>C	c.(124-126)cAc>cCc	p.H42P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.H42P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	42					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTAGCTACAGTGGCCGTGCTG	0.612																																					Pancreas(181;481 2077 3259 31286 49856)												0								ENSG00000101280						113	107	109					20																	896733		2203	4300	6503	ANGPT4	SO:0001583	missense	0			-	HGNC	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.125A>C	20.37:g.896733T>G	ENSP00000371347:p.His42Pro	Somatic	0	36	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.H42P	ENST00000381922.3	37	c.125	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	T	5.214	0.225040	0.09916	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13307	2.6;2.6	4.57	3.43	0.39272	.	0.162448	0.28996	N	0.013480	T	0.04588	0.0125	N	0.04090	-0.28	0.25384	N	0.98859	P;P	0.35363	0.497;0.497	B;B	0.25614	0.062;0.062	T	0.36163	-0.9759	10	0.26408	T	0.33	.	7.1584	0.25651	0.1989:0.0:0.0:0.8011	.	42;42	B4E3J9;Q9Y264	.;ANGP4_HUMAN	P	42	ENSP00000371347:H42P;ENSP00000439605:H42P	ENSP00000371347:H42P	H	-	2	0	ANGPT4	844733	0.976000	0.34144	1.000000	0.80357	0.472000	0.32918	0.721000	0.25911	0.751000	0.32900	0.254000	0.18369	CAC	-	NULL		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	protein_coding	OTTHUMT00000077493.1	T	NM_015985	-		896733	-1	no_errors	ENST00000381922	ensembl	human	known	74_37	missense	SNP	1.000	G	G	896733	T	G	896733	3	3	6	1	0	0	0	0	1	0	0	0	612	1696	59	5	1422	5	ANGPT4	20	896733	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09		896733	62128787	76	311	4	2									
ANGPT4	51378	genome.wustl.edu	37	chr20	896734	896734	+	Missense_Mutation	SNP	G	G	T													caagaaggtgtagctacagtGgccgtgctggactacaagtg							TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr20:896734G>T	ENST00000381922.3	-	1	226	c.124C>A	c.(124-126)Cac>Aac	p.H42N	ANGPT4_ENST00000546022.1_Missense_Mutation_p.H42N	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	42					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TAGCTACAGTGGCCGTGCTGG	0.612																																					Pancreas(181;481 2077 3259 31286 49856)												0								ENSG00000101280						113	107	109					20																	896734		2203	4300	6503	ANGPT4	SO:0001583	missense	0			-	HGNC	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.124C>A	20.37:g.896734G>T	ENSP00000371347:p.His42Asn	Somatic	0	36	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.H42N	ENST00000381922.3	37	c.124	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536218	0.27475	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13089	2.62;2.62	4.57	4.57	0.56435	.	0.162448	0.28996	N	0.013480	T	0.10208	0.0250	N	0.22421	0.69	0.23473	N	0.99761	B;B	0.27068	0.167;0.167	B;B	0.23275	0.045;0.045	T	0.20207	-1.0282	10	0.59425	D	0.04	.	12.7218	0.57146	0.0:0.0:1.0:0.0	.	42;42	B4E3J9;Q9Y264	.;ANGP4_HUMAN	N	42	ENSP00000371347:H42N;ENSP00000439605:H42N	ENSP00000371347:H42N	H	-	1	0	ANGPT4	844734	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	3.702000	0.54800	2.376000	0.81061	0.305000	0.20034	CAC	-	NULL		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	protein_coding	OTTHUMT00000077493.1	G	NM_015985	-		896734	-1	no_errors	ENST00000381922	ensembl	human	known	74_37	missense	SNP	1.000	T	T	896734	G	T	896734	3	4	6	1	0	0	0	0	1	0	0	0	612	1348	47	3	1423	3	ANGPT4	20	896734	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	1	896734	62128786	77	312	4	2									
CDH26	60437	genome.wustl.edu	37	chr20	58587783	58587784	+	Intron	INS	-	-	A													agagtcaggtgttccttcctINSaaaaaaaaaagtctattttg					rs370682137	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr20:58587783_58587784insA	ENST00000244047.5	+	15	2483				CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Stop_Codon_Ins|CDH26_ENST00000348616.4_Stop_Codon_Ins|CDH26_ENST00000244049.3_Stop_Codon_Ins			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.*833fs?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTTCCTTCCTAAAAAAAAAAG	0.396													|||unknown(HR)	163	0.0325479	0.1082	0.0115	5008	,	,		18084	0.003		0.004	False		,,,				2504	0.0051																1	Deletion - Frameshift(1)	ovary(1)						ENSG00000124215																																			CDH26	SO:0001627	intron_variant	0				HGNC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5941->A	20.37:g.58587793_58587793dupA		Somatic	0	56	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Frame_Shift_Ins	INS							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.*834fs	ENST00000244047.5	37	c.2497_2498		20																																																																																			-	NULL		0.396	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		-	NM_177980			58587784	1	no_errors	ENST00000348616	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	A	A	58587784	-	A	58587783	6	5	6	0	1	1	1	0	0	0	0	0	3112	1535	53	0		0	CDH26	20	58587783	Intron	INS	-	TCGA-3B-A9HQ-01A-11D-A387-09	57691049	58587783	4437737	78	313											
SLC5A1	6523	genome.wustl.edu	37	chr22	32480510	32480510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgatggcaacaccaCctttcaggaaaaatgctaca	8	10	2	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:32480510C>T	ENST00000266088.4	+	8	999	c.749C>T	c.(748-750)aCc>aTc	p.T250I	SLC5A1_ENST00000543737.1_Missense_Mutation_p.T123I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	250					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GGCAACACCACCTTTCAGGAA	0.507																																																	0								ENSG00000100170						150	113	126					22																	32480510		2203	4300	6503	SLC5A1	SO:0001583	missense	0			-	HGNC		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.749C>T	22.37:g.32480510C>T	ENSP00000266088:p.Thr250Ile	Somatic	0	49	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67	B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T250I	ENST00000266088.4	37	c.749	CCDS13902.1	22	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373092	0.24857	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89343	-2.17;-2.5	5.06	5.06	0.68205	.	0.240139	0.34959	N	0.003552	D	0.92424	0.7595	M	0.63843	1.955	0.09310	N	0.999999	P	0.49862	0.929	P	0.62649	0.905	D	0.86195	0.1615	10	0.45353	T	0.12	.	14.3161	0.66452	0.1488:0.8512:0.0:0.0	.	250	P13866	SC5A1_HUMAN	I	250;123	ENSP00000266088:T250I;ENSP00000444898:T123I	ENSP00000266088:T250I	T	+	2	0	SLC5A1	30810510	0.990000	0.36364	0.020000	0.16555	0.001000	0.01503	3.052000	0.49893	2.501000	0.84356	0.591000	0.81541	ACC	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.507	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	protein_coding	OTTHUMT00000075656.3	C	NM_000343	-		32480510	1	no_errors	ENST00000266088	ensembl	human	known	74_37	missense	SNP	0.027	T	T	32480510	C	T	32480510	3	4	6	1	0	0	0	0	1	0	0	0	14669	507	18	2	779	2	SLC5A1	22	32480510	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09		32480510	18824056	79	314											
TRIOBP	11078	genome.wustl.edu	37	chr22	38122497	38122497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtggagcgcctcttcGggcaagagcgcaggtgagcc	17	11	1	3			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:38122497G>A	ENST00000406386.3	+	7	4189	c.3934G>A	c.(3934-3936)Ggg>Agg	p.G1312R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1312					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGCCTCTTCGGGCAAGAGCG	0.701																																																	0								ENSG00000100106						3	4	4					22																	38122497		1681	3576	5257	TRIOBP	SO:0001583	missense	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3934G>A	22.37:g.38122497G>A	ENSP00000384312:p.Gly1312Arg	Somatic	0	11	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G1312R	ENST00000406386.3	37	c.3934	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687622	0.48097	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.70045	-0.45	5.07	4.04	0.47022	.	.	.	.	.	T	0.48484	0.1502	L	0.27053	0.805	0.80722	D	1	P	0.42456	0.78	B	0.29716	0.106	T	0.52230	-0.8603	9	0.49607	T	0.09	.	13.7004	0.62604	0.0:0.1543:0.8457:0.0	.	1312	Q9H2D6	TARA_HUMAN	R	1312	ENSP00000384312:G1312R	ENSP00000384312:G1312R	G	+	1	0	TRIOBP	36452443	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.921000	0.56454	1.118000	0.41863	0.558000	0.71614	GGG	-	NULL		0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G		-		38122497	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38122497	G	A	38122497	3	1	6	1	0	0	0	0	1	0	0	0	16560	1116	39	1	3952	1	TRIOBP	22	38122497	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	5641987	38122497	13182069	80	315											
SCUBE1	80274	genome.wustl.edu	37	chr22	43614417	43614417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttgatggcggcctGcaggctctgttctgctcgct	14	12	3	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:43614417G>T	ENST00000360835.4	-	15	1861	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	579					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ATGGCGGCCTGCAGGCTCTGT	0.612																																																	0								ENSG00000159307						85	90	88					22																	43614417		2203	4300	6503	SCUBE1	SO:0001583	missense	0			-	HGNC		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1735C>A	22.37:g.43614417G>T	ENSP00000354080:p.Gln579Lys	Somatic	0	59	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	26	40.91	Q5R336	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.Q579K	ENST00000360835.4	37	c.1735	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297805	0.23650	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.83914	-1.78	4.4	4.4	0.53042	.	0.116020	0.64402	N	0.000010	T	0.71719	0.3373	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66460	-0.5918	10	0.10111	T	0.7	.	17.2191	0.86952	0.0:0.0:1.0:0.0	.	579	Q8IWY4	SCUB1_HUMAN	K	579;209	ENSP00000354080:Q579K	ENSP00000354080:Q579K	Q	-	1	0	SCUBE1	41944361	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	2.442000	0.44873	2.287000	0.76781	0.558000	0.71614	CAG	-	NULL		0.612	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	protein_coding	OTTHUMT00000319582.3	G	NM_173050	-		43614417	-1	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43614417	G	T	43614417	3	4	6	1	0	0	0	0	1	0	0	0	13952	1328	46	3	1263	3	SCUBE1	22	43614417	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	5491920	43614417	7690149	81	316											
CELSR1	9620	genome.wustl.edu	37	chr22	46776812	46776812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctcgctgtacaccagcgTgctcaccatcggggtattaa	9	15	1	0	rs554929905		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:46776812T>C	ENST00000262738.3	-	22	7128	c.7129A>G	c.(7129-7131)Acg>Gcg	p.T2377A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2377					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)			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)		TACACCAGCGTGCTCACCATC	0.607													T|||	1	0.000199681	0	0	5008	,	,		18349	0		0	False		,,,				2504	0.001																0								ENSG00000075275						39	41	40					22																	46776812		2203	4300	6503	CELSR1	SO:0001583	missense	0			-	HGNC	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.7129A>G	22.37:g.46776812T>C	ENSP00000262738:p.Thr2377Ala	Somatic	0	81	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T2377A	ENST00000262738.3	37	c.7129	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	T	2.341	-0.351176	0.05173	.	.	ENSG00000075275	ENST00000262738	T	0.06218	3.33	4.28	-6.28	0.02020	Domain of unknown function DUF3497 (1);	0.472911	0.18743	N	0.132383	T	0.03564	0.0102	N	0.17082	0.46	0.41935	D	0.990584	B;B	0.15930	0.015;0.001	B;B	0.19946	0.027;0.009	T	0.35276	-0.9795	10	0.22109	T	0.4	.	14.2111	0.65764	0.0:0.1454:0.0:0.8546	.	698;2377	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	A	2377	ENSP00000262738:T2377A	ENSP00000262738:T2377A	T	-	1	0	CELSR1	45155476	0.018000	0.18449	0.003000	0.11579	0.292000	0.27327	-0.438000	0.06905	-1.014000	0.03379	-1.843000	0.00578	ACG	-	pfam_DUF3497		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	T	NM_014246	-		46776812	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	0.003	C	C	46776812	T	C	46776812	3	2	6	1	0	0	0	0	1	0	0	0	3223	1696	59	5	1971	5	CELSR1	22	46776812	Missense_Mutation	SNP	T	TCGA-3B-A9HQ-01A-11D-A387-09	3162395	46776812	4527754	82	317											
GRAMD4	23151	genome.wustl.edu	37	chr22	47059047	47059047	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagaacactgtggagacaGaggaacccctgagcgcccgc	14	12	0	4			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:47059047G>A	ENST00000406902.1	+	6	790	c.577G>A	c.(577-579)Gag>Aag	p.E193K	GRAMD4_ENST00000361034.3_Missense_Mutation_p.E193K			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	193					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TGTGGAGACAGAGGAACCCCT	0.677																																																	0								ENSG00000075240						55	62	60					22																	47059047		2203	4300	6503	GRAMD4	SO:0001583	missense	0			-	HGNC		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.577G>A	22.37:g.47059047G>A	ENSP00000385689:p.Glu193Lys	Somatic	0	86	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP							pfam_GRAM,smart_GRAM	p.E193K	ENST00000406902.1	37	c.577	CCDS33672.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.148503|4.148503	0.78001|0.78001	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.40225|.	1.04;1.04|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.060085|.	0.64402|.	D|.	0.000007|.	T|T	0.70587|0.70587	0.3241|0.3241	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	P;B|.	0.46142|.	0.873;0.393|.	B;B|.	0.41510|.	0.359;0.121|.	T|T	0.68773|0.68773	-0.5320|-0.5320	10|5	0.52906|.	T|.	0.07|.	-30.4068|-30.4068	16.1456|16.1456	0.81563|0.81563	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	15;193|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	K|K	193|15	ENSP00000385689:E193K;ENSP00000354313:E193K|.	ENSP00000354313:E193K|.	E|R	+|+	1|2	0|0	GRAMD4|GRAMD4	45437711|45437711	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.288000|0.288000	0.27193|0.27193	6.678000|6.678000	0.74508|0.74508	2.602000|2.602000	0.87976|0.87976	0.558000|0.558000	0.71614|0.71614	GAG|AGA	-	NULL		0.677	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	protein_coding	OTTHUMT00000317969.1	G	NM_015124	-		47059047	1	no_errors	ENST00000361034	ensembl	human	known	74_37	missense	SNP	0.999	A	A	47059047	G	A	47059047	3	1	6	1	0	0	0	0	1	0	0	0	6754	943	33	2	595	2	GRAMD4	22	47059047	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	282235	47059047	4245519	83	318											
TEX13B	56156	genome.wustl.edu	37	chrX	107224536	107224536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgagatctttctccctctGccccgcaaaggtgtaatttg	8	13	3	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chrX:107224536G>T	ENST00000302917.1	-	3	805	c.713C>A	c.(712-714)gCa>gAa	p.A238E		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	238										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TTCTCCCTCTGCCCCGCAAAG	0.597																																																	0								ENSG00000170925						149	133	139					X																	107224536		2199	4300	6499	TEX13B	SO:0001583	missense	0			-	HGNC	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.713C>A	X.37:g.107224536G>T	ENSP00000303777:p.Ala238Glu	Somatic	0	52	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	35.90	Q5JYF6	Missense_Mutation	SNP							NULL	p.A238E	ENST00000302917.1	37	c.713	CCDS14534.1	X	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281596	0.23392	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.29	2.39	0.29439	.	.	.	.	.	T	0.41050	0.1142	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.17349	-1.0372	8	0.26408	T	0.33	.	7.4411	0.27183	0.0:0.2635:0.7365:0.0	.	238	Q9BXU2	TX13B_HUMAN	E	238	.	ENSP00000303777:A238E	A	-	2	0	TEX13B	107111192	0.000000	0.05858	0.120000	0.21714	0.109000	0.19521	-0.104000	0.10923	0.740000	0.32651	0.594000	0.82650	GCA	-	NULL		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	protein_coding	OTTHUMT00000057857.1	G		-		107224536	-1	no_errors	ENST00000302917	ensembl	human	known	74_37	missense	SNP	0.090	T	T	107224536	G	T	107224536	3	4	6	1	0	0	0	0	1	0	0	0	15784	1319	46	3	229	3	TEX13B	23	107224536	Missense_Mutation	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09		107224536	48046024	84	319											
HAUS7	55559	genome.wustl.edu	37	chrX	152721042	152721042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcgtggcctggatgatGgggccgcacgggtggaggtc	21	8	0	1			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chrX:152721042G>A	ENST00000370211.4	-	8	961	c.918C>T	c.(916-918)ccC>ccT	p.P306P	TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.P128L|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Silent_p.P306P|TREX2_ENST00000334497.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	306					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CCTGGATGATGGGGCCGCACG	0.622																																																	0								ENSG00000213397						88	69	75					X																	152721042		2203	4298	6501	HAUS7	SO:0001819	synonymous_variant	0			-	HGNC	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.918C>T	X.37:g.152721042G>A		Somatic	0	118	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	67	31.31	B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP							NULL	p.P128L	ENST00000370211.4	37	c.383	CCDS35438.1	X	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287466	0.40494	.	.	ENSG00000213397	ENST00000435662;ENST00000421080	T	0.26957	1.7	4.99	4.07	0.47477	.	0.319686	0.33309	N	0.005042	T	0.25531	0.0621	.	.	.	0.33026	D	0.529479	.	.	.	.	.	.	T	0.24190	-1.0167	7	0.24483	T	0.36	-25.7866	10.1883	0.43011	0.0:0.0:0.8024:0.1976	.	.	.	.	L	90;128	ENSP00000389431:P90L	ENSP00000395447:P128L	P	-	2	0	HAUS7	152374236	0.677000	0.27577	0.975000	0.42487	0.390000	0.30446	0.637000	0.24659	2.221000	0.72209	0.292000	0.19580	CCA	-	NULL		0.622	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HAUS7	protein_coding	OTTHUMT00000060963.2	G	NM_017518	-		152721042	-1	no_errors	ENST00000421080	ensembl	human	known	74_37	missense	SNP	0.936	A	A	152721042	G	A	152721042	2	1	6	1	0	0	0	0	0	0	0	1	6973	1335	47	2		2	HAUS7	23	152721042	Silent	SNP	G	TCGA-3B-A9HQ-01A-11D-A387-09	45496506	152721042	2549518	85	320											
ABCD1	215	genome.wustl.edu	37	chrX	153008509	153008509	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagagaatcggcatggccCgcatgttctaccacaggtga	12	11	1	2	rs4010613		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chrX:153008509C>G	ENST00000218104.3	+	8	2248	c.1849C>G	c.(1849-1851)Cgc>Ggc	p.R617G	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	617	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in ALD; ALD-type and asymptomatic). {ECO:0000269|PubMed:8040304, ECO:0000269|PubMed:8566952}.|R -> G (in ALD; ADO and AMN-types with cerebral involvement). {ECO:0000269|PubMed:8566952}.|R -> H (in ALD). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:8040304}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCATGGCCCGCATGTTCTA	0.647																																																	0			GRCh37	CD051288|CM940041|CM960044	ABCD1	D|M	rs4010613	ENSG00000101986						42	28	33					X																	153008509		2194	4288	6482	ABCD1	SO:0001583	missense	0			-	HGNC	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1849C>G	X.37:g.153008509C>G	ENSP00000218104:p.Arg617Gly	Somatic	0	168	0		0.63390206962002				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	80	37.21	Q6GTZ2	Missense_Mutation	SNP							pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.R617G	ENST00000218104.3	37	c.1849	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296668	0.81025	.	.	ENSG00000101986	ENST00000218104	D	0.99889	-7.55	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.99910	0.9957	M	0.93241	3.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.96070	0.9045	10	0.87932	D	0	-32.3224	17.0243	0.86441	0.0:1.0:0.0:0.0	.	617	P33897	ABCD1_HUMAN	G	617	ENSP00000218104:R617G	ENSP00000218104:R617G	R	+	1	0	ABCD1	152661703	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	4.321000	0.59209	2.283000	0.76528	0.429000	0.28392	CGC	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	protein_coding	OTTHUMT00000061041.1	C	NM_000033	-		153008509	1	no_errors	ENST00000218104	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153008509	C	G	153008509	3	3	6	1	0	0	0	0	1	0	0	0	60	652	23	4	1879	4	ABCD1	23	153008509	Missense_Mutation	SNP	C	TCGA-3B-A9HQ-01A-11D-A387-09	287467	153008509	2262051	86	321											
C1orf173	127254	genome.wustl.edu	37	chr1	75037267	75037267	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagcaacatctgaaaaggagGaggctttatttgctattgtt	10	6	1	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:75037267G>C	ENST00000326665.5	-	14	4345	c.4127C>G	c.(4126-4128)tCc>tGc	p.S1376C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1376	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGAAAAGGAGGAGGCTTTATT	0.512																																																	0								ENSG00000178965						123	123	123					1																	75037267		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.4127C>G	1.37:g.75037267G>C	ENSP00000322609:p.Ser1376Cys	Somatic	0	34	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	37.50	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP							NULL	p.S1376C	ENST00000326665.5	37	c.4127	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654155	0.47362	.	.	ENSG00000178965	ENST00000326665	T	0.19250	2.16	5.0	3.08	0.35506	.	.	.	.	.	T	0.12263	0.0298	N	0.24115	0.695	0.09310	N	0.999999	D	0.61697	0.99	P	0.58873	0.847	T	0.07539	-1.0767	9	0.62326	D	0.03	0.7678	6.8472	0.23994	0.1645:0.1423:0.6932:0.0	.	1376	Q5RHP9	CA173_HUMAN	C	1376	ENSP00000322609:S1376C	ENSP00000322609:S1376C	S	-	2	0	C1orf173	74809855	0.036000	0.19791	0.104000	0.21259	0.782000	0.44232	1.032000	0.30178	1.099000	0.41499	0.561000	0.74099	TCC	-	NULL		0.512	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	G		-		75037267	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.005	C	C	75037267	G	C	75037267	3	2	7	1	0	0	0	0	1	0	0	0	2016	1174	41	4	469	4	C1orf173	1	75037267	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		75037267	174213354	1	322											
CELSR2	1952	genome.wustl.edu	37	chr1	109803769	109803769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcggtttcaagtgcgattGcccatctggagacttcgaga	14	9	2	2			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:109803769G>T	ENST00000271332.3	+	3	4125	c.4064G>T	c.(4063-4065)tGc>tTc	p.C1355F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1355	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGTGCGATTGCCCATCTGGA	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						103	99	100					1																	109803769		2203	4300	6503	CELSR2	SO:0001583	missense	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4064G>T	1.37:g.109803769G>T	ENSP00000271332:p.Cys1355Phe	Somatic	0	70	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5T2Y7|Q92566	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C1355F	ENST00000271332.3	37	c.4064	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570183	0.86542	.	.	ENSG00000143126	ENST00000271332	D	0.96992	-4.2	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99193	0.9720	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98693	1.0697	9	0.87932	D	0	.	17.9928	0.89174	0.0:0.0:1.0:0.0	.	1355	Q9HCU4	CELR2_HUMAN	F	1355	ENSP00000271332:C1355F	ENSP00000271332:C1355F	C	+	2	0	CELSR2	109605292	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.657000	0.98554	2.478000	0.83669	0.561000	0.74099	TGC	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	G	NM_001408	-		109803769	1	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109803769	G	T	109803769	3	4	7	1	0	0	0	0	1	0	0	0	3224	1319	46	3	4074	3	CELSR2	1	109803769	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	34766502	109803769	139446852	2	323											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144856959	144856959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaatgacatggcggccatGcttattggcaaaggagccat	12	10	0	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:144856959G>T	ENST00000369354.3	-	40	6715	c.6526C>A	c.(6526-6528)Cat>Aat	p.H2176N	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2176N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2070N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H2312N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2261N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2176					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCGGCCATGCTTATTGGCA	0.488			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								ENSG00000178104						58	56	57					1																	144856959		2203	4296	6499	PDE4DIP	SO:0001583	missense	0			-	HGNC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6526C>A	1.37:g.144856959G>T	ENSP00000358360:p.His2176Asn	Somatic	0	525	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	410	13.11	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP							pfam_Spindle_assoc,superfamily_ARM-type_fold	p.H2176N	ENST00000369354.3	37	c.6526	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.21|10.21	1.287411|1.287411	0.23478|0.23478	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01369|.	4.97;5.1;5.09;5.06;5.08|.	4.48|4.48	2.53|2.53	0.30540|0.30540	.|.	.|.	.|.	.|.	.|.	T|T	0.27169|0.27169	0.0666|0.0666	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;P|.	0.36616|.	0.0;0.561|.	B;B|.	0.32289|.	0.001;0.143|.	T|T	0.07252|0.07252	-1.0782|-1.0782	8|5	.|.	.|.	.|.	.|.	5.4373|5.4373	0.16488|0.16488	0.0972:0.0:0.5503:0.3524|0.0972:0.0:0.5503:0.3524	.|.	2070;2176|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	N|R	2070;2176;2176;2261;2312|252	ENSP00000327209:H2070N;ENSP00000358360:H2176N;ENSP00000358363:H2176N;ENSP00000435654:H2261N;ENSP00000358366:H2312N|.	.|.	H|S	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143568316|143568316	0.372000|0.372000	0.25064|0.25064	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	1.189000|1.189000	0.32114|0.32114	0.427000|0.427000	0.26145|0.26145	0.449000|0.449000	0.29647|0.29647	CAT|AGC	-	NULL		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	G	NM_022359	-		144856959	-1	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	SNP	0.985	T	T	144856959	G	T	144856959	3	4	7	1	0	0	0	0	1	0	0	0	11645	1319	46	3	534	3	PDE4DIP	1	144856959	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	35053190	144856959	104393662	3	324											
GBA	2629	genome.wustl.edu	37	chr1	155206233	155206233	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacagcaatgccatgaacatAtttagctgcttctgggtctg	9	9	2	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:155206233A>T	ENST00000327247.5	-	9	1259	c.1027T>A	c.(1027-1029)Tat>Aat	p.Y343N	GBA_ENST00000428024.3_Missense_Mutation_p.Y256N|GBA_ENST00000536770.1_Missense_Mutation_p.Y230N|GBA_ENST00000427500.3_Missense_Mutation_p.Y294N|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000368373.3_Missense_Mutation_p.Y343N|AL713999.1_ENST00000401290.1_RNA	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	343			Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CCATGAACATATTTAGCTGCT	0.507									Gaucher disease type I																																								0								ENSG00000177628						70	61	64					1																	155206233		2203	4300	6503	GBA	SO:0001583	missense	0	Familial Cancer Database	glucocerebrosidase insufficiency	-	HGNC	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1027T>A	1.37:g.155206233A>T	ENSP00000314508:p.Tyr343Asn	Somatic	0	113	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	63	30.00	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP							pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30	p.Y343N	ENST00000327247.5	37	c.1027	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	.	18.16	3.561769	0.65538	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	3.67	2.53	0.30540	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.091144	0.45361	D	0.000363	D	0.99515	0.9827	M	0.93420	3.415	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.99;0.964;0.994	D	0.99593	1.0976	10	0.87932	D	0	.	5.3866	0.16222	0.8654:0.0:0.1346:0.0	.	294;230;343	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	N	294;256;343;343;230;300;328	ENSP00000402577:Y294N;ENSP00000397986:Y256N;ENSP00000357357:Y343N;ENSP00000314508:Y343N;ENSP00000445560:Y230N	ENSP00000314508:Y343N	Y	-	1	0	GBA	153472857	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	6.040000	0.70980	0.591000	0.29711	0.397000	0.26171	TAT	-	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF		0.507	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	protein_coding	OTTHUMT00000087204.1	A	NM_000157	-		155206233	-1	no_errors	ENST00000327247	ensembl	human	known	74_37	missense	SNP	0.998	T	T	155206233	A	T	155206233	3	4	7	1	0	0	0	0	1	0	0	0	6268	449	16	5	599	5	GBA	1	155206233	Missense_Mutation	SNP	A	TCGA-3B-A9HR-01A-11D-A387-09	10349274	155206233	94044388	4	325											
FCRL5	83416	genome.wustl.edu	37	chr1	157491063	157491063	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgggagccctgagggtgagGaccgggcgagacaccggaac	18	12	0	3			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:157491063G>T	ENST00000361835.3	-	11	2416	c.2259C>A	c.(2257-2259)gtC>gtA	p.V753V	FCRL5_ENST00000356953.4_Silent_p.V753V|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	753	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGGGTGAGGACCGGGCGAG	0.512																																																	0								ENSG00000143297						29	32	31					1																	157491063		2203	4299	6502	FCRL5	SO:0001819	synonymous_variant	0			-	HGNC	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2259C>A	1.37:g.157491063G>T		Somatic	0	39	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V753	ENST00000361835.3	37	c.2259	CCDS1165.1	1																																																																																			-	pfscan_Ig-like_dom		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	protein_coding	OTTHUMT00000046263.1	G	NM_031281	-		157491063	-1	no_errors	ENST00000356953	ensembl	human	known	74_37	silent	SNP	0.916	T	T	157491063	G	T	157491063	2	4	7	1	0	0	0	0	0	0	0	1	5800	1161	41	3		3	FCRL5	1	157491063	Silent	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	2284830	157491063	91759558	5	326											
TSNAX	7257	genome.wustl.edu	37	chr1	231700641	231700641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatagatcaagaagaggGcatttcttagaatctaacgt	9	5	3	5			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr1:231700641G>A	ENST00000366639.4	+	6	1021	c.863G>A	c.(862-864)gGc>gAc	p.G288D	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	288					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CAAGAAGAGGGCATTTCTTAG	0.318																																																	0								ENSG00000116918						68	69	69					1																	231700641		2203	4300	6503	TSNAX	SO:0001583	missense	0			-	HGNC	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.863G>A	1.37:g.231700641G>A	ENSP00000355599:p.Gly288Asp	Somatic	0	47	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B1APC6	Missense_Mutation	SNP							pfam_Translin,superfamily_Translin	p.G288D	ENST00000366639.4	37	c.863	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260972	0.59431	.	.	ENSG00000116918	ENST00000366639	.	.	.	5.67	5.67	0.87782	.	0.242902	0.49305	D	0.000159	T	0.60521	0.2275	L	0.47716	1.5	0.38565	D	0.949817	B	0.26400	0.148	B	0.24701	0.055	T	0.61441	-0.7062	9	0.72032	D	0.01	.	20.113	0.97915	0.0:0.0:1.0:0.0	.	288	Q99598	TSNAX_HUMAN	D	288	.	ENSP00000355599:G288D	G	+	2	0	TSNAX	229767264	1.000000	0.71417	0.996000	0.52242	0.821000	0.46438	8.695000	0.91298	2.828000	0.97474	0.650000	0.86243	GGC	-	NULL		0.318	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	protein_coding	OTTHUMT00000095267.2	G	NM_005999	-		231700641	1	no_errors	ENST00000366639	ensembl	human	known	74_37	missense	SNP	1.000	A	A	231700641	G	A	231700641	3	1	7	1	0	0	0	0	1	0	0	0	16638	1203	42	2	885	2	TSNAX	1	231700641	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	74209578	231700641	17549980	6	327											
CRIM1	51232	genome.wustl.edu	37	chr2	36583692	36583692	+	Frame_Shift_Del	DEL	G	G	-													gatttacggaacctgcgaccGggggctgcgttgtgtcatcc					rs145554366		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr2:36583692delG	ENST00000280527.2	+	1	624	c.257delG	c.(256-258)cggfs	p.R86fs	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACCTGCGACCGGGGGCTGCGT	0.692																																																	0								ENSG00000150938						38	39	39					2																	36583692		2203	4298	6501	CRIM1	SO:0001589	frameshift_variant	0				HGNC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.257delG	2.37:g.36583692delG	ENSP00000280527:p.Arg86fs	Somatic	0	50	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Frame_Shift_Del	DEL							pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.L88fs	ENST00000280527.2	37	c.257	CCDS1783.1	2																																																																																			-	smart_IGFBP-like		0.692	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	protein_coding	OTTHUMT00000216878.2	G	NM_016441			36583692	1	no_errors	ENST00000280527	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	36583692	G	-	36583692	7	5	7	1	0	1	0	1	0	0	0	0	3875	1116	39	0	259	0	CRIM1	2	36583692	Frame_Shift_Del	DEL	G	TCGA-3B-A9HR-01A-11D-A387-09		36583692	206615681	7	328											
CTNNA2	1496	genome.wustl.edu	37	chr2	80816439	80816439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacgcaggccatcatggCgcaactaccgcaggaggaga	12	14	1	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr2:80816439C>T	ENST00000402739.4	+	14	2023	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.A673V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A673V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A673V|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A673V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A707V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A352V|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	673					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)			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						GCCATCATGGCGCAACTACCG	0.522																																																	0								ENSG00000066032						62	67	65					2																	80816439		2176	4287	6463	CTNNA2	SO:0001583	missense	0			-	HGNC		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.2018C>T	2.37:g.80816439C>T	ENSP00000384638:p.Ala673Val	Somatic	0	103	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A707V	ENST00000402739.4	37	c.2120		2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340632	0.81911	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	N	0.24115	0.695	0.80722	D	1	B;D;D;D	0.65815	0.427;0.995;0.974;0.974	B;P;B;B	0.58331	0.145;0.837;0.424;0.424	T	0.52155	-0.8613	9	.	.	.	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	305;673;673;673	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	V	673;673;707;673;673;673;352	ENSP00000418191:A673V;ENSP00000419295:A673V;ENSP00000355398:A707V;ENSP00000384638:A673V;ENSP00000444675:A673V;ENSP00000441705:A673V;ENSP00000341500:A352V	.	A	+	2	0	CTNNA2	80669950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.629000	0.83207	2.726000	0.93360	0.655000	0.94253	GCG	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.522	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	protein_coding	OTTHUMT00000328511.4	C	NM_004389	-		80816439	1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80816439	C	T	80816439	3	4	7	1	0	0	0	0	1	0	0	0	4015	768	27	1	1864	1	CTNNA2	2	80816439	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09	44232747	80816439	162382934	8	329											
ST3GAL5	8869	genome.wustl.edu	37	chr2	86090503	86090503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgaggatgtcttttaatAacaagctgggccttctcatc	8	9	2	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr2:86090503A>G	ENST00000377332.3	-	2	296	c.188T>C	c.(187-189)tTa>tCa	p.L63S	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L35S|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L63S|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L40S	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	63					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTCTTTTAATAACAAGCTGGG	0.488																																																	0								ENSG00000115525						148	138	141					2																	86090503		2203	4300	6503	ST3GAL5	SO:0001583	missense	0			-	HGNC	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.188T>C	2.37:g.86090503A>G	ENSP00000366549:p.Leu63Ser	Somatic	0	116	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	78	35.77	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L63S	ENST00000377332.3	37	c.188	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276810	0.40294	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.62105	0.91;0.94;0.79;0.38;0.05	5.53	5.53	0.82687	.	0.560423	0.16465	N	0.213240	T	0.68174	0.2972	L	0.27053	0.805	0.33557	D	0.59693	D;D;D;D	0.89917	1.0;1.0;0.964;0.961	D;D;P;P	0.79784	0.993;0.993;0.726;0.804	T	0.76138	-0.3069	10	0.87932	D	0	-12.1202	12.3493	0.55139	1.0:0.0:0.0:0.0	.	63;63;63;40	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	S	40;35;63;35;63	ENSP00000377397:L40S;ENSP00000377394:L35S;ENSP00000366549:L63S;ENSP00000401375:L35S;ENSP00000433607:L63S	ENSP00000306247:L63S	L	-	2	0	ST3GAL5	85944014	0.909000	0.30893	0.973000	0.42090	0.297000	0.27493	4.987000	0.63857	2.224000	0.72417	0.528000	0.53228	TTA	-	pirsf_Sialyl_trans		0.488	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	protein_coding	OTTHUMT00000252486.1	A	NM_003896	-		86090503	-1	no_errors	ENST00000377332	ensembl	human	known	74_37	missense	SNP	0.979	G	G	86090503	A	G	86090503	3	3	7	1	0	0	0	0	1	0	0	0	15225	372	13	5	1092	5	ST3GAL5	2	86090503	Missense_Mutation	SNP	A	TCGA-3B-A9HR-01A-11D-A387-09	5274064	86090503	157108870	9	330											
EOMES	8320	genome.wustl.edu	37	chr3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC													ggcggcggcggcggcggcggINSctgcagcggcggagggcagc					rs368178421|rs1874198|rs3062761	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767														2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0								ENSG00000163508			101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				EOMES	SO:0001652	inframe_insertion	0				HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla	Somatic					0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																			-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	-	NM_005442			27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	INS	0.116:0.075	CGGCGC	CGGCGC	27763428	-	CGGCGC	27763427	7	5	7	1	0	1	1	0	0	0	0	0	5149	1203	42	0	1725	0	EOMES	3	27763427	In_Frame_Ins	INS	-	TCGA-3B-A9HR-01A-11D-A387-09		27763427	170259003	10	331											
PODXL2	50512	genome.wustl.edu	37	chr3	127379364	127379369	+	In_Frame_Del	DEL	GAAGAG	GAAGAG	-													tgcctcccagagaggaggaaGaagaggaagaggaagaggag					rs200281996	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	GAAGAG	GAAGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr3:127379364_127379369delGAAGAG	ENST00000342480.6	+	3	532_537	c.493_498delGAAGAG	c.(493-498)gaagagdel	p.EE171del		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	171	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						agaggaggaagaagaggaagaggaag	0.553														37	0.00738818	0.0212	0.0014	5008	,	,		22508	0.005		0	False		,,,				2504	0.0031																0								ENSG00000114631			61,4203		1,59,2072						-4.8	0.4			53	3,8251		1,1,4125	no	coding	PODXL2	NM_015720.2		2,60,6197	A1A1,A1R,RR		0.0363,1.4306,0.5113				64,12454				PODXL2	SO:0001651	inframe_deletion	0				HGNC	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.493_498delGAAGAG	3.37:g.127379370_127379375delGAAGAG	ENSP00000345359:p.Glu171_Glu172del	Somatic					0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6UVY4|Q8WUV6	In_Frame_Del	DEL							pfam_CD34/Podocalyxin	p.EE168in_frame_del	ENST00000342480.6	37	c.493_498	CCDS3044.1	3																																																																																			-	NULL		0.553	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	protein_coding	OTTHUMT00000356638.1	GAAGAG	NM_015720			127379369	1	no_errors	ENST00000342480	ensembl	human	known	74_37	in_frame_del	DEL	0.461:0.426:0.115:0.869:0.885:0.889	-	-	127379369	GAAGAG	-	127379364	7	5	7	1	0	1	0	1	0	0	0	0	12183	943	33	0	503	0	PODXL2	3	127379364	In_Frame_Del	DEL	GAAGAG	TCGA-3B-A9HR-01A-11D-A387-09	99615937	127379364	70643066	11	332											
BCHE	590	genome.wustl.edu	37	chr3	165548792	165548792	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaccaaaagagaaatctGatgcatatgattgtgacttt	8	5	1	5			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr3:165548792G>T	ENST00000264381.3	-	2	196	c.30C>A	c.(28-30)atC>atA	p.I10I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	10					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)	AGAGAAATCTGATGCATATGA	0.333																																																	0								ENSG00000114200						38	36	37					3																	165548792		2203	4299	6502	BCHE	SO:0001819	synonymous_variant	0			-	HGNC	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.30C>A	3.37:g.165548792G>T		Somatic	0	52	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K7P8	Silent	SNP							pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.I10	ENST00000264381.3	37	c.30	CCDS3198.1	3																																																																																			-	NULL		0.333	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	protein_coding	OTTHUMT00000350254.1	G		-		165548792	-1	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	SNP	0.000	T	T	165548792	G	T	165548792	2	4	7	1	0	0	0	0	0	0	0	1	1358	1280	45	3		3	BCHE	3	165548792	Silent	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	38169428	165548792	32473638	12	333											
TP63	8626	genome.wustl.edu	37	chr3	189604233	189604233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacagctccccacctctgaAcaaaatgaacagcatgaaca	5	13	1	3	rs369453583		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr3:189604233A>G	ENST00000264731.3	+	11	1489	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	TP63_ENST00000392461.3_Missense_Mutation_p.N373S|TP63_ENST00000320472.5_Missense_Mutation_p.N467S|TP63_ENST00000382063.4_Missense_Mutation_p.N382S|TP63_ENST00000456148.1_Missense_Mutation_p.N369S|TP63_ENST00000449992.1_Missense_Mutation_p.N288S|TP63_ENST00000354600.5_Missense_Mutation_p.N373S|TP63_ENST00000392460.3_Missense_Mutation_p.N467S|TP63_ENST00000392463.2_Missense_Mutation_p.N373S|TP63_ENST00000440651.2_Missense_Mutation_p.N463S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	467					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCTCTGAACAAAATGAAC	0.488										HNSCC(45;0.13)																																							0								ENSG00000073282	A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	141	118	126		1400,1118,1118,1400	3.3	1	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TP63	NM_003722.4,NM_001114981.1,NM_001114980.1,NM_001114978.1	46,46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign,benign	467/681,373/462,373/587,467/556	189604233	1,13005	2203	4300	6503	TP63	SO:0001583	missense	0			-	HGNC	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1400A>G	3.37:g.189604233A>G	ENSP00000264731:p.Asn467Ser	Somatic	0	104	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	84	13.27	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.N467S	ENST00000264731.3	37	c.1400	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474768	0.26511	0.0	1.16E-4	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99680	-6.05;-6.3;-6.28;-6.05;-6.38;-6.04;-6.27;-6.29;-6.38;-6.04	5.98	3.3	0.37823	.	0.145674	0.64402	D	0.000007	D	0.98223	0.9412	L	0.39898	1.24	0.34463	D	0.702002	B;B;B;B;B;B	0.18013	0.0;0.0;0.015;0.011;0.015;0.025	B;B;B;B;B;B	0.24701	0.002;0.007;0.055;0.037;0.053;0.024	D	0.99973	1.2076	9	.	.	.	-11.6314	6.5092	0.22212	0.6985:0.0:0.3015:0.0	.	288;467;373;373;467;467	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	S	467;467;467;463;382;373;373;373;288;369	ENSP00000264731:N467S;ENSP00000317510:N467S;ENSP00000376253:N467S;ENSP00000394337:N463S;ENSP00000371495:N382S;ENSP00000346614:N373S;ENSP00000376256:N373S;ENSP00000376254:N373S;ENSP00000387839:N288S;ENSP00000389485:N369S	.	N	+	2	0	TP63	191086927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.507000	0.53371	1.089000	0.41292	-0.332000	0.08345	AAC	-	NULL		0.488	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	protein_coding	OTTHUMT00000343865.1	A	NM_003722	-		189604233	1	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	SNP	1.000	G	G	189604233	A	G	189604233	3	3	7	1	0	0	0	0	1	0	0	0	16399	43	2	5	1607	5	TP63	3	189604233	Missense_Mutation	SNP	A	TCGA-3B-A9HR-01A-11D-A387-09	24055441	189604233	8418197	13	334											
CORIN	10699	genome.wustl.edu	37	chr4	47645273	47645273	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcatcttggcaaaatGctggcatggggaacaaaaag	11	8	3	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr4:47645273G>T	ENST00000273857.4	-	15	1957	c.1958C>A	c.(1957-1959)tCa>tAa	p.S653*	CORIN_ENST00000508498.1_Splice_Site_p.S514*|CORIN_ENST00000502252.1_Splice_Site_p.S586*|CORIN_ENST00000505909.1_Splice_Site_p.S616*|CORIN_ENST00000504584.1_Splice_Site_p.S616*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	653	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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						TTGGCAAAATGCTGGCATGGG	0.438																																																	0								ENSG00000145244						133	108	117					4																	47645273		2203	4300	6503	CORIN	SO:0001630	splice_region_variant	0			-	HGNC	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.1958-1C>A	4.37:g.47645273G>T		Somatic	0	62	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Nonsense_Mutation	SNP							pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.S653*	ENST00000273857.4	37	c.1958	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.256941	0.97417	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	.	.	.	6.17	6.17	0.99709	.	0.301489	0.30930	N	0.008583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	653;514;586;616;616	.	ENSP00000273857:S653X	S	-	2	0	CORIN	47340030	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	8.166000	0.89665	2.941000	0.99782	0.655000	0.94253	TCA	-	pirsf_Peptidase_S1A_corin,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.438	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	protein_coding	OTTHUMT00000216906.2	G		-	Nonsense_Mutation	47645273	-1	no_errors	ENST00000273857	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	47645273	G	T	47645273	5	4	7	1	0	0	0	0	0	0	1	0	3754	1333	46	3	1202	3	CORIN	4	47645273	Splice_Site	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		47645273	143509003	14	335											
KIAA1211	57482	genome.wustl.edu	37	chr4	57180682	57180682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggcggctggaggaggaCgccaggctggaggagcggag	23	8	0	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr4:57180682C>T	ENST00000504228.1	+	6	1119	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	KIAA1211_ENST00000264229.6_Silent_p.D338D|KIAA1211_ENST00000541073.1_Silent_p.D331D			Q6ZU35	K1211_HUMAN	KIAA1211	338	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGAGGAGGACGCCAGGCTGG	0.701																																																	0								ENSG00000109265						4	5	5					4																	57180682		1925	3851	5776	KIAA1211	SO:0001819	synonymous_variant	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1014C>T	4.37:g.57180682C>T		Somatic	0	37	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	21.74	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP							NULL	p.D338	ENST00000504228.1	37	c.1014	CCDS43230.1	4																																																																																			-	NULL		0.701	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	C	NM_020722	-		57180682	1	no_errors	ENST00000504228	ensembl	human	known	74_37	silent	SNP	0.000	T	T	57180682	C	T	57180682	2	4	7	1	0	0	0	0	0	0	0	1	8217	535	19	1		1	KIAA1211	4	57180682	Silent	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09	9535409	57180682	133973594	15	336											
F2R	2149	genome.wustl.edu	37	chr5	76028937	76028937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtctatcattcgatGtcttagctcttccgcagttg	8	9	4	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr5:76028937G>T	ENST00000319211.4	+	2	1152	c.887G>T	c.(886-888)tGt>tTt	p.C296F		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	296					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATCATTCGATGTCTTAGCTCT	0.488																																																	0								ENSG00000181104						155	152	153					5																	76028937		2203	4300	6503	F2R	SO:0001583	missense	0			-	HGNC	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.887G>T	5.37:g.76028937G>T	ENSP00000321326:p.Cys296Phe	Somatic	0	57	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	59	31.40	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.C296F	ENST00000319211.4	37	c.887	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249558	0.59212	.	.	ENSG00000181104	ENST00000319211	T	0.36157	1.27	4.71	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.216732	0.48767	D	0.000180	T	0.49201	0.1543	L	0.41236	1.265	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.42481	-0.9449	10	0.33141	T	0.24	-20.7161	15.4151	0.74960	0.0:0.1394:0.8606:0.0	.	296	P25116	PAR1_HUMAN	F	296	ENSP00000321326:C296F	ENSP00000321326:C296F	C	+	2	0	F2R	76064693	1.000000	0.71417	0.171000	0.22900	0.958000	0.62258	3.917000	0.56424	1.332000	0.45431	0.561000	0.74099	TGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt		0.488	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	protein_coding	OTTHUMT00000254068.2	G		-		76028937	1	no_errors	ENST00000319211	ensembl	human	known	74_37	missense	SNP	0.757	T	T	76028937	G	T	76028937	3	4	7	1	0	0	0	0	1	0	0	0	5345	1377	48	3	893	3	F2R	5	76028937	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		76028937	104886323	16	337											
SERPINB6	5269	genome.wustl.edu	37	chr6	2948672	2948672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagctgtggcggctgCagcctccgtgccttcctcat	13	14	1	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr6:2948672C>T	ENST00000380520.1	-	6	2985	c.991G>A	c.(991-993)Gca>Aca	p.A331T	SERPINB6_ENST00000380546.3_Missense_Mutation_p.A331T|SERPINB6_ENST00000380524.1_Missense_Mutation_p.A331T|SERPINB6_ENST00000380539.1_Missense_Mutation_p.A331T|SERPINB6_ENST00000335686.5_Missense_Mutation_p.A331T|SERPINB6_ENST00000380529.1_Missense_Mutation_p.A331T			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	331					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GTGGCGGCTGCAGCCTCCGTG	0.577																																																	0								ENSG00000124570						41	42	42					6																	2948672		2203	4300	6503	SERPINB6	SO:0001583	missense	0			-	HGNC	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.991G>A	6.37:g.2948672C>T	ENSP00000369891:p.Ala331Thr	Somatic	0	35	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A331T	ENST00000380520.1	37	c.991	CCDS4479.1	6	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796528	0.70567	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.16	4.27	0.50696	Serpin domain (3);	0.148825	0.64402	N	0.000011	D	0.86785	0.6016	M	0.78637	2.42	0.58432	D	0.999999	P	0.40000	0.698	P	0.50934	0.654	D	0.88234	0.2905	10	0.56958	D	0.05	.	14.4308	0.67249	0.1492:0.8508:0.0:0.0	.	331	P35237	SPB6_HUMAN	T	331;331;331;331;331;331;147	ENSP00000369896:A331T;ENSP00000369891:A331T;ENSP00000338358:A331T;ENSP00000369901:A331T;ENSP00000369912:A331T;ENSP00000369919:A331T	ENSP00000338358:A331T	A	-	1	0	SERPINB6	2893671	1.000000	0.71417	0.004000	0.12327	0.020000	0.10135	4.754000	0.62191	1.473000	0.48159	0.551000	0.68910	GCA	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.577	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB6	protein_coding	OTTHUMT00000043422.1	C		-		2948672	-1	no_errors	ENST00000335686	ensembl	human	known	74_37	missense	SNP	0.903	T	T	2948672	C	T	2948672	3	4	7	1	0	0	0	0	1	0	0	0	14113	710	25	2	143	2	SERPINB6	6	2948672	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09		2948672	168166395	17	338											
SCAND3	114821	genome.wustl.edu	37	chr6	28543139	28543139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaatattactgagttcaCtgacaacctggcttgaaaat	7	9	1	3			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr6:28543139C>T	ENST00000452236.2	-	3	1960	c.1343G>A	c.(1342-1344)aGt>aAt	p.S448N	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						ACTGAGTTCACTGACAACCTG	0.423																																																	0								ENSG00000232040						60	61	60					6																	28543139		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.1343G>A	6.37:g.28543139C>T	ENSP00000395259:p.Ser448Asn	Somatic	0	50	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S448N	ENST00000452236.2	37	c.1343	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830675	0.16820	.	.	ENSG00000232040	ENST00000452236	T	0.41758	0.99	2.95	-0.981	0.10269	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.05868	0.0153	N	0.04880	-0.145	0.21604	N	0.999628	B	0.02656	0.0	B	0.04013	0.001	T	0.43065	-0.9414	9	0.15952	T	0.53	.	7.3683	0.26787	0.0:0.5268:0.0:0.4732	.	448	Q6R2W3	SCND3_HUMAN	N	448	ENSP00000395259:S448N	ENSP00000395259:S448N	S	-	2	0	SCAND3	28651118	0.000000	0.05858	0.932000	0.37286	0.989000	0.77384	-0.684000	0.05173	-0.131000	0.11578	0.563000	0.77884	AGT	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	C		-		28543139	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	0.954	T	T	28543139	C	T	28543139	3	4	7	1	0	0	0	0	1	0	0	0	13884	565	20	2	2642	2	SCAND3	6	28543139	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09	25594467	28543139	142571928	18	339											
MCM3	4172	genome.wustl.edu	37	chr6	52141140	52141140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatggatgccagccttggCaatggtcactcgaccctgct	11	13	1	0	rs188062670		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr6:52141140C>T	ENST00000229854.7	-	9	1376	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Missense_Mutation_p.A479T|MCM3_ENST00000419835.2_Missense_Mutation_p.A388T			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	434	MCM.				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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCAGCCTTGGCAATGGTCACT	0.547																																																	0								ENSG00000112118						90	66	74					6																	52141140		2203	4300	6503	MCM3	SO:0001583	missense	0			GMAF=0	HGNC	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1300G>A	6.37:g.52141140C>T	ENSP00000229854:p.Ala434Thr	Somatic	0	47	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP							pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.A479T	ENST00000229854.7	37	c.1435		6	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	28.8	4.950945	0.92660	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.08634	3.07;3.07	5.13	4.2	0.49525	ATPase, AAA+ type, core (1);	0.049407	0.85682	D	0.000000	T	0.22627	0.0546	M	0.87180	2.865	0.80722	D	1	D;P	0.55800	0.973;0.883	P;P	0.59643	0.861;0.861	T	0.03008	-1.1083	10	0.87932	D	0	-19.7353	16.2553	0.82515	0.1414:0.8586:0.0:0.0	.	388;434	B4DUQ9;P25205	.;MCM3_HUMAN	T	434;388	ENSP00000229854:A434T;ENSP00000388647:A388T	ENSP00000229854:A434T	A	-	1	0	MCM3	52249099	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	4.783000	0.62403	2.669000	0.90835	0.655000	0.94253	GCC	-	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase		0.547	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	protein_coding	OTTHUMT00000470784.1	C		rs188062670		52141140	-1	no_errors	ENST00000596288	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52141140	C	T	52141140	3	4	7	1	0	0	0	0	1	0	0	0	9389	710	25	2	1162	2	MCM3	6	52141140	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09	23598001	52141140	118973927	19	340											
ASF1A	25842	genome.wustl.edu	37	chr6	119222020	119222020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagtgggtcctgttcccGcaggaaggcatatgtttgta	12	7	0	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr6:119222020G>A	ENST00000229595.5	+	2	393	c.199G>A	c.(199-201)Gca>Aca	p.A67T	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	67	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)	p.A67T(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCCTGTTCCCGCAGGAAGGCA	0.353																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000111875						222	217	218					6																	119222020		1853	4096	5949	ASF1A	SO:0001583	missense	0			-	HGNC	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.199G>A	6.37:g.119222020G>A	ENSP00000229595:p.Ala67Thr	Somatic	0	69	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6IA08|Q9P014	Missense_Mutation	SNP							pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.A67T	ENST00000229595.5	37	c.199	CCDS47469.1	6	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729854	0.89390	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.57797	-0.7749	9	0.23891	T	0.37	-18.3592	20.5792	0.99380	0.0:0.0:1.0:0.0	.	67	Q9Y294	ASF1A_HUMAN	T	67	.	ENSP00000229595:A67T	A	+	1	0	ASF1A	119263719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GCA	-	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like		0.353	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	protein_coding	OTTHUMT00000361910.1	G	NM_014034	-		119222020	1	no_errors	ENST00000229595	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119222020	G	A	119222020	3	1	7	1	0	0	0	0	1	0	0	0	1037	1087	38	1	92	1	ASF1A	6	119222020	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	67080880	119222020	51893047	20	341											
MUC17	140453	genome.wustl.edu	37	chr7	100677114	100677114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcctagtgaaggaagtcCtttattaacaagtatacctg	7	8	0	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr7:100677114C>A	ENST00000306151.4	+	3	2481	c.2417C>A	c.(2416-2418)cCt>cAt	p.P806H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	806	59 X approximate tandem repeats.|Ser-rich.				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)					GAAGGAAGTCCTTTATTAACA	0.483																																																	0								ENSG00000169876						278	285	283					7																	100677114		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.2417C>A	7.37:g.100677114C>A	ENSP00000302716:p.Pro806His	Somatic	0	110	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	77	29.36	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P806H	ENST00000306151.4	37	c.2417	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	0.676	-0.800140	0.02841	.	.	ENSG00000169876	ENST00000306151	T	0.03330	3.97	1.08	-2.17	0.07059	.	.	.	.	.	T	0.02083	0.0065	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44711	-0.9310	9	0.44086	T	0.13	.	3.6154	0.08075	0.4643:0.3042:0.2315:0.0	.	806	Q685J3	MUC17_HUMAN	H	806	ENSP00000302716:P806H	ENSP00000302716:P806H	P	+	2	0	MUC17	100463834	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.714000	0.37961	-0.513000	0.06496	0.134000	0.15878	CCT	-	NULL		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100677114	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	A	A	100677114	C	A	100677114	3	1	7	1	0	0	0	0	1	0	0	0	9976	681	24	3	2427	3	MUC17	7	100677114	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09		100677114	58461549	21	342											
TDRD7	23424	genome.wustl.edu	37	chr9	100235889	100235889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttctacgtaagatagAggactacttccattgcaagg	9	9	1	3			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr9:100235889A>G	ENST00000355295.4	+	11	2355	c.2060A>G	c.(2059-2061)gAg>gGg	p.E687G	TDRD7_ENST00000540902.1_Missense_Mutation_p.E36G|TDRD7_ENST00000422139.2_Missense_Mutation_p.E613G	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	687					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGTAAGATAGAGGACTACTTC	0.383																																																	0								ENSG00000196116						137	118	125					9																	100235889		2203	4300	6503	TDRD7	SO:0001583	missense	0			-	HGNC	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2060A>G	9.37:g.100235889A>G	ENSP00000347444:p.Glu687Gly	Somatic	0	77	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	87	18.69	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP							pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E687G	ENST00000355295.4	37	c.2060	CCDS6725.1	9	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221419	0.79464	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.28454	2.94;2.94;1.61	4.27	4.27	0.50696	Maternal tudor protein (1);	0.050408	0.85682	D	0.000000	T	0.46776	0.1410	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.971	T	0.41752	-0.9491	10	0.52906	T	0.07	-28.0812	13.2082	0.59809	1.0:0.0:0.0:0.0	.	36;687	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	G	687;613;36	ENSP00000347444:E687G;ENSP00000413608:E613G;ENSP00000440717:E36G	ENSP00000347444:E687G	E	+	2	0	TDRD7	99275710	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.709000	0.91379	2.158000	0.67659	0.528000	0.53228	GAG	-	pfam_Tudor		0.383	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	protein_coding	OTTHUMT00000053322.1	A	NM_014290	-		100235889	1	no_errors	ENST00000355295	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100235889	A	G	100235889	3	3	7	1	0	0	0	0	1	0	0	0	15742	304	11	5	2098	5	TDRD7	9	100235889	Missense_Mutation	SNP	A	TCGA-3B-A9HR-01A-11D-A387-09		100235889	40977542	22	343											
GATA3	2625	genome.wustl.edu	37	chr10	8105992	8105992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactgtggggcaacctcgaCcccactgtggcggcgagatg	15	12	0	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr10:8105992C>A	ENST00000346208.3	+	4	1267	c.812C>A	c.(811-813)aCc>aAc	p.T271N	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000379328.3_Missense_Mutation_p.T272N			P23771	GATA3_HUMAN	GATA binding protein 3	271					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCAACCTCGACCCCACTGTGG	0.552			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0								ENSG00000107485						163	119	133					10																	8105992		2203	4300	6503	GATA3	SO:0001583	missense	0			-	HGNC	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.812C>A	10.37:g.8105992C>A	ENSP00000341619:p.Thr271Asn	Somatic	0	98	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	25	48.98	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP							pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.T272N	ENST00000346208.3	37	c.815	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.120304	0.94385	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99875	-7.4;-7.4	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96217	0.9157	10	0.87932	D	0	-16.7366	19.165	0.93553	0.0:1.0:0.0:0.0	.	271;272	P23771;P23771-2	GATA3_HUMAN;.	N	272;271	ENSP00000368632:T272N;ENSP00000341619:T271N	ENSP00000341619:T271N	T	+	2	0	GATA3	8145998	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.818000	0.86416	2.519000	0.84933	0.655000	0.94253	ACC	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA		0.552	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	protein_coding	OTTHUMT00000046719.1	C	NM_001002295	-		8105992	1	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8105992	C	A	8105992	3	1	7	1	0	0	0	0	1	0	0	0	6257	507	18	3	825	3	GATA3	10	8105992	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09		8105992	127428755	23	344											
TMEM20	159371	genome.wustl.edu	37	chr10	95658334	95658334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatctttttcagaagccaAgaagaaagcaccctgtcctg	7	10	2	3	rs542280075		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr10:95658334A>G	ENST00000427197.1	+	2	246	c.185A>G	c.(184-186)aAg>aGg	p.K62R	SLC35G1_ENST00000371408.3_Missense_Mutation_p.K61R	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	62					calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCAGAAGCCAAGAAGAAAGCA	0.383													A|||	1	0.000199681	8e-04	0	5008	,	,		19547	0		0	False		,,,				2504	0																0								ENSG00000176273						210	190	197					10																	95658334		2203	4300	6503	SLC35G1	SO:0001583	missense	0			-	HGNC	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"Solute carriers"	26607	protein-coding gene	gene with protein product			"transmembrane protein 20"	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.185A>G	10.37:g.95658334A>G	ENSP00000400932:p.Lys62Arg	Somatic	0	66	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	Q86YG5|Q8NBA5	Missense_Mutation	SNP							pfam_DMT	p.K62R	ENST00000427197.1	37	c.185	CCDS44459.1	10	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134909	0.56828	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.78481	-1.16;-1.18	5.73	5.73	0.89815	.	0.363813	0.30959	N	0.008533	T	0.72748	0.3499	L	0.41824	1.3	0.40227	D	0.977803	P;B;B	0.52316	0.952;0.035;0.027	P;B;B	0.44422	0.449;0.014;0.019	T	0.71955	-0.4436	10	0.25106	T	0.35	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	45;62;61	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	R	61;62	ENSP00000360462:K61R;ENSP00000400932:K62R	ENSP00000360462:K61R	K	+	2	0	SLC35G1	95648324	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.238000	0.65366	2.308000	0.77769	0.533000	0.62120	AAG	-	NULL		0.383	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35G1	protein_coding		A	NM_153226	-		95658334	1	no_errors	ENST00000427197	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95658334	A	G	95658334	3	3	7	1	0	0	0	0	1	0	0	0	16129	72	3	5	191	5	TMEM20	10	95658334	Missense_Mutation	SNP	A	TCGA-3B-A9HR-01A-11D-A387-09	87552342	95658334	39876413	24	345											
TCIRG1	10312	genome.wustl.edu	37	chr11	67818126	67818126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacgccctgcggctGcactggtgagcgaccaccca	11	17	0	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr11:67818126G>A	ENST00000265686.3	+	19	2517	c.2409G>A	c.(2407-2409)ctG>ctA	p.L803L	RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000530802.1_Intron|CHKA_ENST00000533728.1_5'Flank|TCIRG1_ENST00000532635.1_Silent_p.L587L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	803					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCCTGCGGCTGCACTGGTGAG	0.627																																																	0								ENSG00000110719						93	87	89					11																	67818126		2200	4294	6494	TCIRG1	SO:0001819	synonymous_variant	0			-	HGNC	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2409G>A	11.37:g.67818126G>A		Somatic	0	85	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O75877|Q8WVC5	Silent	SNP							pfam_V-ATPase_116kDa_su	p.L803	ENST00000265686.3	37	c.2409	CCDS8177.1	11																																																																																			-	pfam_V-ATPase_116kDa_su		0.627	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCIRG1	protein_coding	OTTHUMT00000394305.1	G	NM_006019	-		67818126	1	no_errors	ENST00000265686	ensembl	human	known	74_37	silent	SNP	1.000	A	A	67818126	G	A	67818126	2	1	7	1	0	0	0	0	0	0	0	1	15710	1306	46	2		2	TCIRG1	11	67818126	Silent	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		67818126	67188390	25	346											
HINFP	25988	genome.wustl.edu	37	chr11	119005179	119005179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaagcttcaaggaataGctgaggagccagagatccag	13	7	1	2			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr11:119005179G>T	ENST00000350777.2	+	10	1588	c.1525G>T	c.(1525-1527)Gct>Tct	p.A509S		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	509	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCAAGGAATAGCTGAGGAGCC	0.572											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000172273						24	28	27					11																	119005179		2200	4295	6495	HINFP	SO:0001583	missense	0			-	HGNC	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1525G>T	11.37:g.119005179G>T	ENSP00000318085:p.Ala509Ser	Somatic	0	39	0	1492	0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A509S	ENST00000350777.2	37	c.1525	CCDS8414.1	11	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185765	0.21870	.	.	ENSG00000172273	ENST00000350777	T	0.10668	2.85	5.13	2.15	0.27550	.	0.249015	0.31404	N	0.007702	T	0.07593	0.0191	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21415	-1.0246	10	0.59425	D	0.04	-0.6804	5.2068	0.15295	0.0778:0.1773:0.6109:0.1339	.	509	Q9BQA5	HINFP_HUMAN	S	509	ENSP00000318085:A509S	ENSP00000318085:A509S	A	+	1	0	HINFP	118510389	0.892000	0.30473	0.124000	0.21820	0.250000	0.25880	1.702000	0.37836	0.286000	0.22352	-0.123000	0.14984	GCT	-	NULL		0.572	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	protein_coding	OTTHUMT00000388201.2	G	NM_015517	-		119005179	1	no_errors	ENST00000350777	ensembl	human	known	74_37	missense	SNP	0.875	T	T	119005179	G	T	119005179	3	4	7	1	0	0	0	0	1	0	0	0	7112	971	34	3	1559	3	HINFP	11	119005179	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	51187053	119005179	16001337	26	347											
FOXJ2	55810	genome.wustl.edu	37	chr12	8205396	8205396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcagtgccacctcctGgtgccaatgaggagatccct	11	14	1	2			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:8205396G>A	ENST00000162391.3	+	11	2820	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	559					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCCACCTCCTGGTGCCAATGA	0.517																																																	0								ENSG00000065970						76	56	62					12																	8205396		2203	4300	6503	FOXJ2	SO:0001583	missense	0			-	HGNC	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1675G>A	12.37:g.8205396G>A	ENSP00000162391:p.Gly559Ser	Somatic	0	35	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G559S	ENST00000162391.3	37	c.1675	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373216	0.82573	.	.	ENSG00000065970	ENST00000162391	D	0.93659	-3.26	5.85	4.96	0.65561	.	0.557324	0.16322	N	0.219508	D	0.89276	0.6669	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	D	0.83954	0.0318	10	0.23891	T	0.37	.	10.6762	0.45787	0.0872:0.0:0.9128:0.0	.	559	Q9P0K8	FOXJ2_HUMAN	S	559	ENSP00000162391:G559S	ENSP00000162391:G559S	G	+	1	0	FOXJ2	8096663	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.425000	0.59875	1.485000	0.48380	0.650000	0.86243	GGT	-	NULL		0.517	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	protein_coding	OTTHUMT00000400088.1	G	NM_018416	-		8205396	1	no_errors	ENST00000162391	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8205396	G	A	8205396	3	1	7	1	0	0	0	0	1	0	0	0	6014	1348	47	2	1713	2	FOXJ2	12	8205396	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		8205396	125646499	27	348											
PRH2	5555	genome.wustl.edu	37	chr12	11082885	11082885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgtcagccaagaagacGttcccttggtaatatcaggt	10	8	2	3			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:11082885G>A	ENST00000396400.3	+	2	120	c.82G>A	c.(82-84)Gtt>Att	p.V28I	PRH2_ENST00000381847.3_Missense_Mutation_p.V28I|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	28	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						CCAAGAAGACGTTCCCTTGGT	0.383																																																	0								ENSG00000134551						171	160	163					12																	11082885		2203	4300	6503	PRH2	SO:0001583	missense	0			-	HGNC		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.82G>A	12.37:g.11082885G>A	ENSP00000379682:p.Val28Ile	Somatic	0	77	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP							NULL	p.V28I	ENST00000396400.3	37	c.82	CCDS8636.1	12	.	.	.	.	.	.	.	.	.	.	G	2.058	-0.416161	0.04766	.	.	ENSG00000134551	ENST00000381847;ENST00000396400;ENST00000256972	T;T	0.15017	2.46;2.46	0.647	-1.29	0.09288	.	.	.	.	.	T	0.07188	0.0182	L	0.34521	1.04	0.09310	N	1	P;P	0.49253	0.692;0.921	B;B	0.26969	0.044;0.075	T	0.21724	-1.0237	8	0.87932	D	0	.	.	.	.	.	28;28	P02810;Q68D45	PRPC_HUMAN;.	I	28	ENSP00000371271:V28I;ENSP00000379682:V28I	ENSP00000256972:V28I	V	+	1	0	PRH2	10974152	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.026000	0.00640	-1.135000	0.02895	0.194000	0.17425	GTT	-	NULL		0.383	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRH2	protein_coding	OTTHUMT00000400231.1	G	NM_001110213	-		11082885	1	no_errors	ENST00000381847	ensembl	human	known	74_37	missense	SNP	0.000	A	A	11082885	G	A	11082885	3	1	7	1	0	0	0	0	1	0	0	0	12488	1145	40	1	88	1	PRH2	12	11082885	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	2877489	11082885	122769010	28	349											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21331641	21331641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcgctaaagaaggacatTcttctttgtatttaggtaat	7	5	2	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:21331641T>C	ENST00000256958.2	+	6	709	c.613T>C	c.(613-615)Tct>Cct	p.S205P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	205					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AGAAGGACATTCTTCTTTGTA	0.323																																																	0								ENSG00000134538						107	100	102					12																	21331641		2203	4300	6503	SLCO1B1	SO:0001583	missense	0			-	HGNC		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.613T>C	12.37:g.21331641T>C	ENSP00000256958:p.Ser205Pro	Somatic	0	101	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	72	10.00	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S205P	ENST00000256958.2	37	c.613	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311382	0.23821	.	.	ENSG00000134538	ENST00000256958	T	0.58506	0.33	3.71	1.16	0.20824	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.638139	0.16306	N	0.220204	T	0.75064	0.3799	M	0.93978	3.48	0.20307	N	0.999916	D	0.71674	0.998	D	0.76575	0.988	T	0.63559	-0.6610	10	0.66056	D	0.02	.	1.1099	0.01702	0.3952:0.0956:0.1573:0.3518	.	205	Q9Y6L6	SO1B1_HUMAN	P	205	ENSP00000256958:S205P	ENSP00000256958:S205P	S	+	1	0	SLCO1B1	21222908	0.030000	0.19436	0.343000	0.25615	0.366000	0.29705	0.317000	0.19487	0.111000	0.17947	0.260000	0.18958	TCT	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	T	NM_006446	-		21331641	1	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	SNP	0.090	C	C	21331641	T	C	21331641	3	2	7	1	0	0	0	0	1	0	0	0	14731	1783	62	5	631	5	SLCO1B1	12	21331641	Missense_Mutation	SNP	T	TCGA-3B-A9HR-01A-11D-A387-09	10248756	21331641	112520254	29	350											
OR6C1	390321	genome.wustl.edu	37	chr12	55714741	55714741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgccatgtcctatgacCgctatgtggccatctgcaag	11	12	1	1	rs143845104		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:55714741C>T	ENST00000379668.2	+	1	396	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	120						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(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GTCCTATGACCGCTATGTGGC	0.398																																																	0								ENSG00000205330	C	CYS/ARG	0,4404		0,0,2202	47	48	48		358	3.7	0.9	12	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR6C1	NM_001005182.1	180	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	120/313	55714741	2,13002	2202	4300	6502	OR6C1	SO:0001583	missense	0			-	HGNC	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.358C>T	12.37:g.55714741C>T	ENSP00000368990:p.Arg120Cys	Somatic	0	92	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	63	33.68	B2RNM0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R120C	ENST00000379668.2	37	c.358	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	c	16.59	3.164636	0.57476	0.0	2.33E-4	ENSG00000205330	ENST00000379668	T	0.77358	-1.09	4.62	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.78240	0.4252	M	0.85041	2.73	0.51233	D	0.999914	B	0.28783	0.222	B	0.26094	0.066	T	0.80837	-0.1204	10	0.62326	D	0.03	.	12.0225	0.53352	0.0:0.9119:0.0:0.0881	.	120	Q96RD1	OR6C1_HUMAN	C	120	ENSP00000368990:R120C	ENSP00000368990:R120C	R	+	1	0	OR6C1	54001008	0.112000	0.22096	0.895000	0.35142	0.706000	0.40770	0.623000	0.24447	2.387000	0.81309	0.455000	0.32223	CGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.398	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	protein_coding	OTTHUMT00000398152.1	C	NM_001005182	rs143845104		55714741	1	no_errors	ENST00000379668	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55714741	C	T	55714741	3	4	7	1	0	0	0	0	1	0	0	0	11192	652	23	1	360	1	OR6C1	12	55714741	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09	34383100	55714741	78137154	30	351											
CEP290	80184	genome.wustl.edu	37	chr12	88496697	88496697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttagcagtcagttcaTtgtactgtttattagccagt	8	7	2	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr12:88496697T>C	ENST00000552810.1	-	26	3252	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	CEP290_ENST00000309041.7_Missense_Mutation_p.N972S|CEP290_ENST00000547691.2_Missense_Mutation_p.N30S|CEP290_ENST00000397838.3_Missense_Mutation_p.N30S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	970					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						AGTCAGTTCATTGTACTGTTT	0.358																																																	0								ENSG00000198707						98	91	93					12																	88496697		1843	4100	5943	CEP290	SO:0001583	missense	0			-	HGNC	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.2909A>G	12.37:g.88496697T>C	ENSP00000448012:p.Asn970Ser	Somatic	0	88	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	51	32.89	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP							NULL	p.N972S	ENST00000552810.1	37	c.2915	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	11.38	1.621564	0.28889	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.63255	0.48;-0.03;-0.03;0.48	4.81	2.31	0.28768	.	0.092409	0.64402	D	0.000001	T	0.46718	0.1407	L	0.31926	0.97	0.31852	N	0.62215	B	0.10296	0.003	B	0.15870	0.014	T	0.47586	-0.9106	10	0.29301	T	0.29	.	9.4315	0.38612	0.0:0.1516:0.0:0.8484	.	970	O15078	CE290_HUMAN	S	30;970;972;30	ENSP00000446905:N30S;ENSP00000448012:N970S;ENSP00000308021:N972S;ENSP00000380938:N30S	ENSP00000308021:N972S	N	-	2	0	CEP290	87020828	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.137000	0.50562	0.643000	0.30638	0.459000	0.35465	AAT	-	NULL		0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	T	NM_025114	-		88496697	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	1.000	C	C	88496697	T	C	88496697	3	2	7	1	0	0	0	0	1	0	0	0	3255	1493	52	5	4646	5	CEP290	12	88496697	Missense_Mutation	SNP	T	TCGA-3B-A9HR-01A-11D-A387-09	32781956	88496697	45355198	31	352											
NPAS3	64067	genome.wustl.edu	37	chr14	34269971	34269971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgccaccagcacggccGcgcagagggtctacaccacg	13	17	1	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr14:34269971G>A	ENST00000356141.4	+	12	2458	c.2458G>A	c.(2458-2460)Gcg>Acg	p.A820T	NPAS3_ENST00000551492.1_Missense_Mutation_p.A825T|NPAS3_ENST00000346562.2_Missense_Mutation_p.A788T|NPAS3_ENST00000548645.1_Missense_Mutation_p.A790T|NPAS3_ENST00000357798.5_Missense_Mutation_p.A807T			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	820					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGCACGGCCGCGCAGAGGGT	0.697																																																	0								ENSG00000151322						15	14	14					14																	34269971		2179	4279	6458	NPAS3	SO:0001583	missense	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2458G>A	14.37:g.34269971G>A	ENSP00000348460:p.Ala820Thr	Somatic	0	22	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP							pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.A820T	ENST00000356141.4	37	c.2458	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209202	0.39003	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.08458	3.35;3.22;3.23;3.23;3.23;3.09	5.02	5.02	0.67125	.	0.124357	0.52532	D	0.000076	T	0.06234	0.0161	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.50710	0.78;0.672;0.78;0.938	B;B;B;B	0.37091	0.131;0.062;0.131;0.241	T	0.34354	-0.9832	10	0.72032	D	0.01	.	18.3405	0.90303	0.0:0.0:1.0:0.0	.	790;820;788;807	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	T	794;825;788;790;820;807	ENSP00000448373:A794T;ENSP00000450392:A825T;ENSP00000319610:A788T;ENSP00000448916:A790T;ENSP00000348460:A820T;ENSP00000350446:A807T	ENSP00000319610:A788T	A	+	1	0	NPAS3	33339722	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.645000	0.54389	2.310000	0.77875	0.484000	0.47621	GCG	-	NULL		0.697	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	G		-		34269971	1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	SNP	0.998	A	A	34269971	G	A	34269971	3	1	7	1	0	0	0	0	1	0	0	0	10566	1087	38	1	2559	1	NPAS3	14	34269971	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		34269971	73079569	32	353											
TJP1	7082	genome.wustl.edu	37	chr15	29996494	29996494	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccacacatcaccaaaggaCtcagcagtgtttcacctgga	8	13	3	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr15:29996494C>G	ENST00000346128.6	-	27	5558	c.5084G>C	c.(5083-5085)aGt>aCt	p.S1695T	TJP1_ENST00000356107.6_Missense_Mutation_p.S1695T|TJP1_ENST00000545208.2_Missense_Mutation_p.S1615T|TJP1_ENST00000400011.2_Missense_Mutation_p.S1619T	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1695	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)		CACCAAAGGACTCAGCAGTGT	0.507																																					Melanoma(77;681 1843 6309 6570)												0								ENSG00000104067						46	49	48					15																	29996494		1991	4192	6183	TJP1	SO:0001583	missense	0			-	HGNC		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.5084G>C	15.37:g.29996494C>G	ENSP00000281537:p.Ser1695Thr	Somatic	0	49	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP							pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.S1695T	ENST00000346128.6	37	c.5084	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041233	0.75732	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.63913	-0.07;-0.07	5.18	4.26	0.50523	ZU5 (3);	0.039599	0.85682	D	0.000000	T	0.79592	0.4472	M	0.80982	2.52	0.80722	D	1	B;P;P;B	0.48407	0.379;0.91;0.545;0.011	P;D;D;B	0.76071	0.898;0.987;0.969;0.19	T	0.82112	-0.0618	10	0.87932	D	0	.	13.5479	0.61715	0.0:0.9246:0.0:0.0754	.	1688;1615;1695;1619	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	T	1695;1619;1695;1615;1615	ENSP00000281537:S1695T;ENSP00000382890:S1619T	ENSP00000281537:S1695T	S	-	2	0	TJP1	27783786	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.818000	0.86416	1.177000	0.42855	0.467000	0.42956	AGT	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.507	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	protein_coding	OTTHUMT00000268237.3	C	NM_003257	-		29996494	-1	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29996494	C	G	29996494	3	3	7	1	0	0	0	0	1	0	0	0	15936	565	20	4	170	4	TJP1	15	29996494	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09		29996494	72534898	33	354											
ZNF174	7727	genome.wustl.edu	37	chr16	3458760	3458760	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggagagagaccctacacGtgcggagagtgtggaaactg	15	8	0	3	rs553598485		TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr16:3458760G>T	ENST00000268655.4	+	3	1650	c.1065G>T	c.(1063-1065)acG>acT	p.T355T	ZNF174_ENST00000571936.1_Silent_p.T355T	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	355					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GACCCTACACGTGCGGAGAGT	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		19072	0		0	False		,,,				2504	0																0								ENSG00000103343						52	59	57					16																	3458760		2197	4300	6497	ZNF174	SO:0001819	synonymous_variant	0			-	HGNC	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1065G>T	16.37:g.3458760G>T		Somatic	0	40	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q53Y68|Q9BQ34	Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T355	ENST00000268655.4	37	c.1065	CCDS10504.1	16																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	protein_coding	OTTHUMT00000251510.1	G	NM_003450	-		3458760	1	no_errors	ENST00000268655	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3458760	G	T	3458760	2	4	7	1	0	0	0	0	0	0	0	1	17751	1132	40	3		3	ZNF174	16	3458760	Silent	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		3458760	86895993	34	355											
CORO7	79585	genome.wustl.edu	37	chr16	4411430	4411430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgccccattctgcagcGtgggcagtgccgtgtcgggc	15	14	1	0	rs200682379	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr16:4411430G>A	ENST00000251166.4	-	17	1764	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.T540M|CORO7_ENST00000574025.1_Missense_Mutation_p.T455M|CORO7_ENST00000537233.2_Missense_Mutation_p.T522M|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000539968.1_Missense_Mutation_p.T320M	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	540					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ATTCTGCAGCGTGGGCAGTGC	0.672													G|||	4	0.000798722	0.0015	0	5008	,	,		17565	0		0	False		,,,				2504	0.002																0								ENSG00000103426						50	53	52					16																	4411430		2196	4297	6493	CORO7-PAM16	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1619C>T	16.37:g.4411430G>A	ENSP00000251166:p.Thr540Met	Somatic	0	133	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	75	34.78	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP							pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T540M	ENST00000251166.4	37	c.1619	CCDS10513.1	16	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.3	4.910114	0.92107	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.66995	-0.24;-0.24	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118903	0.56097	D	0.000025	T	0.82089	0.4961	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.95;0.968;0.999;0.985	D	0.84173	0.0435	10	0.66056	D	0.02	-4.8731	18.1341	0.89612	0.0:0.0:1.0:0.0	.	455;522;320;540;521	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	M	540;455;320	ENSP00000251166:T540M;ENSP00000446221:T320M	ENSP00000251166:T540M	T	-	2	0	CORO7	4351431	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.739000	0.98837	2.373000	0.80994	0.561000	0.74099	ACG	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.672	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	protein_coding	OTTHUMT00000251628.2	G	NM_024535	rs200682379		4411430	-1	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4411430	G	A	4411430	3	1	7	1	0	0	0	0	1	0	0	0	3761	1145	40	1	1206	1	CORO7	16	4411430	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	952670	4411430	85943323	35	356											
MMP2	4313	genome.wustl.edu	37	chr16	55519559	55519559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgatggggagtactgcaaGttccccttcttgttcaatgg	12	10	2	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr16:55519559G>T	ENST00000219070.4	+	5	1211	c.702G>T	c.(700-702)aaG>aaT	p.K234N	MMP2_ENST00000437642.2_Missense_Mutation_p.K184N|MMP2_ENST00000543485.1_Missense_Mutation_p.K158N|MMP2_ENST00000570308.1_Missense_Mutation_p.K158N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	234	Collagen-binding.|Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGTACTGCAAGTTCCCCTTCT	0.542																																																	0								ENSG00000087245						151	127	135					16																	55519559		2198	4300	6498	MMP2	SO:0001583	missense	0			-	HGNC		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.702G>T	16.37:g.55519559G>T	ENSP00000219070:p.Lys234Asn	Somatic	0	77	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.K234N	ENST00000219070.4	37	c.702	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403639	0.42613	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.51071	0.72;0.72;0.72	4.66	3.7	0.42460	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.091794	0.64402	D	0.000001	T	0.37433	0.1003	L	0.52364	1.645	0.54753	D	0.999983	B;B	0.19331	0.004;0.035	B;B	0.19148	0.024;0.02	T	0.24440	-1.0160	10	0.32370	T	0.25	.	7.2714	0.26258	0.2129:0.0:0.7871:0.0	.	184;234	E9PE45;P08253	.;MMP2_HUMAN	N	234;158;184	ENSP00000219070:K234N;ENSP00000444143:K158N;ENSP00000394237:K184N	ENSP00000219070:K234N	K	+	3	2	MMP2	54077060	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.685000	0.25378	2.164000	0.68074	0.436000	0.28706	AAG	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.542	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	protein_coding	OTTHUMT00000256913.3	G		-		55519559	1	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55519559	G	T	55519559	3	4	7	1	0	0	0	0	1	0	0	0	9660	1020	36	3	727	3	MMP2	16	55519559	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	51108129	55519559	34835194	36	357											
EXOC3L	283849	genome.wustl.edu	37	chr16	67220479	67220479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcaagaatgtgcccaGttctgacagtgccatgccat	8	14	2	2	rs75613564	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr16:67220479G>T	ENST00000314586.6	-	8	1606	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	456					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AATGTGCCCAGTTCTGACAGT	0.547																																																	0								ENSG00000179044						126	118	121					16																	67220479		2198	4300	6498	EXOC3L1	SO:0001583	missense	0			-	HGNC	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1366C>A	16.37:g.67220479G>T	ENSP00000325674:p.Leu456Met	Somatic	0	46	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.00	A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP							pfam_Sec6	p.L456M	ENST00000314586.6	37	c.1366	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	G	5.489	0.275296	0.10403	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.07114	3.22;3.22	5.44	2.29	0.28610	.	0.167475	0.48767	N	0.000162	T	0.15825	0.0381	L	0.47716	1.5	0.36168	D	0.848605	D;D;D	0.89917	1.0;0.995;0.981	D;D;P	0.91635	0.999;0.966;0.832	T	0.24190	-1.0167	10	0.22109	T	0.4	-8.0619	6.0241	0.19646	0.1629:0.0:0.6862:0.1509	.	353;353;456	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	M	456;353;358	ENSP00000325674:L456M;ENSP00000439910:L353M	ENSP00000325008:L358M	L	-	1	2	EXOC3L1	65777980	1.000000	0.71417	0.961000	0.40146	0.380000	0.30137	2.469000	0.45110	0.236000	0.21180	0.305000	0.20034	CTG	-	pfam_Sec6		0.547	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	protein_coding	OTTHUMT00000268827.2	G	NM_178516	-		67220479	-1	no_errors	ENST00000314586	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67220479	G	T	67220479	3	4	7	1	0	0	0	0	1	0	0	0	5306	1020	36	3	902	3	EXOC3L	16	67220479	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	11700920	67220479	23134274	37	358											
MAP1S	55201	genome.wustl.edu	37	chr19	17838873	17838873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcttgctggtggggacCgtgccagccgaccactcagt	16	12	1	0	rs554580208	byFrequency	TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr19:17838873C>T	ENST00000324096.4	+	5	2831	c.2680C>T	c.(2680-2682)Cgt>Tgt	p.R894C	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R868C|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	894	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGGTGGGGACCGTGCCAGCCG	0.687													C|||	2	0.000399361	0	0	5008	,	,		12593	0		0	False		,,,				2504	0.002																0								ENSG00000130479						10	12	11					19																	17838873		2106	4154	6260	MAP1S	SO:0001583	missense	0			-	HGNC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2680C>T	19.37:g.17838873C>T	ENSP00000325313:p.Arg894Cys	Somatic	0	63	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	107	15.08	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP							NULL	p.R894C	ENST00000324096.4	37	c.2680	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677225	0.29783	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.21361	2.01;2.01	4.66	1.18	0.20946	.	0.310579	0.22649	N	0.057354	T	0.29321	0.0730	L	0.53249	1.67	0.09310	N	0.999996	D;D	0.76494	0.999;0.999	P;P	0.57960	0.83;0.649	T	0.07693	-1.0759	10	0.87932	D	0	-21.1952	5.8195	0.18520	0.3379:0.5689:0.0:0.0933	.	868;894	B4DH53;Q66K74	.;MAP1S_HUMAN	C	894;868	ENSP00000325313:R894C;ENSP00000439243:R868C	ENSP00000325313:R894C	R	+	1	0	MAP1S	17699873	0.033000	0.19621	0.014000	0.15608	0.055000	0.15305	-0.012000	0.12699	0.130000	0.18549	-0.150000	0.13652	CGT	-	NULL		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	protein_coding	OTTHUMT00000466027.1	C	NM_018174	-		17838873	1	no_errors	ENST00000324096	ensembl	human	known	74_37	missense	SNP	0.070	T	T	17838873	C	T	17838873	3	4	7	1	0	0	0	0	1	0	0	0	9236	652	23	1	2698	1	MAP1S	19	17838873	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09		17838873	41290110	38	359											
ZNF607	84775	genome.wustl.edu	37	chr19	38189646	38189646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatgtataacaagataTgaggcacaacgaaaggactt	8	8	1	2			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr19:38189646T>C	ENST00000355202.4	-	5	1981	c.1386A>G	c.(1384-1386)tcA>tcG	p.S462S	ZNF607_ENST00000395835.3_Silent_p.S461S|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	462					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAACAAGATATGAGGCACAAC	0.403																																																	0								ENSG00000198182						98	99	99					19																	38189646		2203	4300	6503	ZNF607	SO:0001819	synonymous_variant	0			-	HGNC	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1386A>G	19.37:g.38189646T>C		Somatic	0	76	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	74	24.49	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S462	ENST00000355202.4	37	c.1386	CCDS33006.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	protein_coding	OTTHUMT00000459502.2	T	NM_032689	-		38189646	-1	no_errors	ENST00000355202	ensembl	human	known	74_37	silent	SNP	0.053	C	C	38189646	T	C	38189646	2	2	7	1	0	0	0	0	0	0	0	1	18040	1451	51	5		5	ZNF607	19	38189646	Silent	SNP	T	TCGA-3B-A9HR-01A-11D-A387-09	20350773	38189646	20939337	39	360											
RBM39	9584	genome.wustl.edu	37	chr20	34292643	34292643	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcaatagctgcagcaattGatgggcacttcacatacaca	8	11	1	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr20:34292643G>T	ENST00000253363.6	-	16	1462	c.1439C>A	c.(1438-1440)tCa>tAa	p.S480*	RBM39_ENST00000361162.6_Nonsense_Mutation_p.S474*|RBM39_ENST00000528062.3_Nonsense_Mutation_p.S458*|RBM39_ENST00000407261.4_Nonsense_Mutation_p.S323*			Q14498	RBM39_HUMAN	RNA binding motif protein 39	480	Interaction with NCOA6. {ECO:0000250}.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGCAGCAATTGATGGGCACTT	0.368																																																	0								ENSG00000131051						107	106	106					20																	34292643		2203	4300	6503	RBM39	SO:0001587	stop_gained	0			-	HGNC	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1439C>A	20.37:g.34292643G>T	ENSP00000253363:p.Ser480*	Somatic	0	24	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Nonsense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF	p.S480*	ENST00000253363.6	37	c.1439	CCDS13266.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.383697	0.95967	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	.	.	.	4.82	4.82	0.62117	.	0.131137	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4518	0.90707	0.0:0.0:1.0:0.0	.	.	.	.	X	480;474;458;323	.	ENSP00000253363:S480X	S	-	2	0	RBM39	33756057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.509000	0.98002	2.667000	0.90743	0.650000	0.86243	TCA	-	smart_RRM_dom_euk,smart_RRM_dom,tigrfam_CC1_SF		0.368	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	protein_coding	OTTHUMT00000078931.2	G	NM_184237	-		34292643	-1	no_errors	ENST00000253363	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	34292643	G	T	34292643	4	4	7	1	0	0	0	0	0	1	0	0	13141	1294	45	3	161	3	RBM39	20	34292643	Nonsense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		34292643	28732877	40	361											
DIP2A	23181	genome.wustl.edu	37	chr21	47924314	47924314	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcaccacgggcctcgtGgagcattcgtactttgagcg	13	11	1	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr21:47924314G>C	ENST00000417564.2	+	6	717	c.696G>C	c.(694-696)gtG>gtC	p.V232V	DIP2A_ENST00000427143.2_Silent_p.V168V|DIP2A_ENST00000318711.7_Silent_p.V233V|DIP2A_ENST00000466639.1_Intron|DIP2A_ENST00000435722.3_Silent_p.V232V|DIP2A_ENST00000400274.1_Silent_p.V232V|DIP2A_ENST00000457905.3_Silent_p.V232V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	232					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGGGCCTCGTGGAGCATTCGT	0.517																																																	0								ENSG00000160305						58	58	58					21																	47924314		1941	4160	6101	DIP2A	SO:0001819	synonymous_variant	0			-	HGNC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.696G>C	21.37:g.47924314G>C		Somatic	0	85	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	82	21.15	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V233	ENST00000417564.2	37	c.699	CCDS46655.1	21																																																																																			-	NULL		0.517	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	protein_coding	OTTHUMT00000376736.1	G	NM_015151	-		47924314	1	no_errors	ENST00000318711	ensembl	human	known	74_37	silent	SNP	0.036	C	C	47924314	G	C	47924314	2	2	7	1	0	0	0	0	0	0	0	1	4529	1335	47	4		4	DIP2A	21	47924314	Silent	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09		47924314	205581	41	362											
PRMT2	3275	genome.wustl.edu	37	chr21	48083368	48083368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggagacgtggtcacgGgttcagttgtgttgcagaga	15	6	2	2			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr21:48083368G>A	ENST00000397637.1	+	10	2125	c.1171G>A	c.(1171-1173)Ggt>Agt	p.G391S	PRMT2_ENST00000397638.2_Missense_Mutation_p.G391S|PRMT2_ENST00000458387.2_Missense_Mutation_p.G243E|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.G391S|PRMT2_ENST00000440086.1_Missense_Mutation_p.G289S|PRMT2_ENST00000291705.6_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	391	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CGTGGTCACGGGTTCAGTTGT	0.552																																																	0								ENSG00000160310						185	149	161					21																	48083368		2203	4300	6503	PRMT2	SO:0001583	missense	0			-	HGNC	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.1171G>A	21.37:g.48083368G>A	ENSP00000380759:p.Gly391Ser	Somatic	0	41	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP							pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G391S	ENST00000397637.1	37	c.1171	CCDS13737.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.4|21.4	4.147963|4.147963	0.78001|0.78001	.|.	.|.	ENSG00000160310|ENSG00000160310	ENST00000458387|ENST00000355680;ENST00000397638;ENST00000397637;ENST00000440086	T|D;D;D;D	0.69685|0.96365	-0.42|-3.99;-3.99;-3.99;-3.99	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.98642|0.98642	0.9545|0.9545	H|H	0.94385|0.94385	3.53|3.53	0.80722|0.80722	D|D	1|1	B|D;D	0.18741|0.89917	0.03|1.0;0.997	B|D;D	0.23419|0.91635	0.046|0.999;0.968	D|D	0.99609|0.99609	1.0980|1.0980	9|9	.|.	.|.	.|.	-8.7749|-8.7749	16.504|16.504	0.84264|0.84264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243|289;391	B7U631|Q498Y5;P55345	.|.;ANM2_HUMAN	E|S	243|391;391;391;289	ENSP00000407463:G243E|ENSP00000347906:G391S;ENSP00000380760:G391S;ENSP00000380759:G391S;ENSP00000397266:G289S	.|.	G|G	+|+	2|1	0|0	PRMT2|PRMT2	46907796|46907796	1.000000|1.000000	0.71417|0.71417	0.330000|0.330000	0.25442|0.25442	0.173000|0.173000	0.22820|0.22820	6.748000|6.748000	0.74877|0.74877	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GGG|GGT	-	pfam_Arg_MeTrfase		0.552	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	protein_coding	OTTHUMT00000207401.1	G	NM_001535	-		48083368	1	no_errors	ENST00000355680	ensembl	human	known	74_37	missense	SNP	0.995	A	A	48083368	G	A	48083368	3	1	7	1	0	0	0	0	1	0	0	0	12542	1232	43	2	1205	2	PRMT2	21	48083368	Missense_Mutation	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	159054	48083368	46527	42	363											
BPIL2	254240	genome.wustl.edu	37	chr22	32843215	32843215	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaagtggagactcgaAcccccagtctgtgctgatgt	10	11	2	2			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr22:32843215A>T	ENST00000397452.1	-	4	468	c.358T>A	c.(358-360)Ttc>Atc	p.F120I	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.F120I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	120						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GGAGACTCGAACCCCCAGTCT	0.448																																																	0								ENSG00000184459						138	119	126					22																	32843215		2203	4300	6503	BPIFC	SO:0001583	missense	0			-	HGNC	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.358T>A	22.37:g.32843215A>T	ENSP00000380594:p.Phe120Ile	Somatic	0	91	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	56	37.08	A2RRF1	Missense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.F120I	ENST00000397452.1	37	c.358	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274915	0.23307	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05081	3.5;3.5	5.87	-8.49	0.00931	.	0.570310	0.18956	N	0.126524	T	0.01489	0.0048	N	0.02142	-0.665	0.51233	D	0.999916	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.13853	T	0.58	-5.9574	7.1646	0.25683	0.2179:0.1707:0.0:0.6114	.	120	Q8NFQ6	BPIFC_HUMAN	I	120	ENSP00000380594:F120I;ENSP00000300399:F120I	ENSP00000300399:F120I	F	-	1	0	BPIFC	31173215	0.000000	0.05858	0.001000	0.08648	0.765000	0.43378	-1.431000	0.02432	-1.199000	0.02666	-0.339000	0.08088	TTC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.448	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	protein_coding	OTTHUMT00000129029.2	A	NM_174932	-		32843215	-1	no_errors	ENST00000300399	ensembl	human	known	74_37	missense	SNP	0.001	T	T	32843215	A	T	32843215	3	4	7	1	0	0	0	0	1	0	0	0	1494	43	2	5	1217	5	BPIL2	22	32843215	Missense_Mutation	SNP	A	TCGA-3B-A9HR-01A-11D-A387-09		32843215	18461351	43	364											
ACO2	50	genome.wustl.edu	37	chr22	41916174	41916174	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcatgtttgtttcttcaGctgaagccacacatcaatgg	8	10	3	1			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr22:41916174G>T	ENST00000216254.4	+	9	1054		c.e9-1		ACO2_ENST00000396512.3_Splice_Site|ACO2_ENST00000466237.1_Splice_Site	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGTTTCTTCAGCTGAAGCCAC	0.567																																																	0								ENSG00000100412						64	54	57					22																	41916174		2203	4300	6503	ACO2	SO:0001630	splice_region_variant	0			-	HGNC	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1033-1G>T	22.37:g.41916174G>T		Somatic	0	55	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Splice_Site	SNP							-	e9-1	ENST00000216254.4	37	c.1033-1	CCDS14017.1	22	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436269	0.83885	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5211	0.90952	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACO2	40246120	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.344000	0.97050	2.453000	0.82957	0.561000	0.74099	.	-	-		0.567	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO2	protein_coding	OTTHUMT00000259151.1	G	NM_001098	-	Intron	41916174	1	no_errors	ENST00000216254	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	41916174	G	T	41916174	5	4	7	1	0	0	0	0	0	0	1	0	147	985	34	3	1066	3	ACO2	22	41916174	Splice_Site	SNP	G	TCGA-3B-A9HR-01A-11D-A387-09	9072959	41916174	9388392	44	365											
KLHDC7B	113730	genome.wustl.edu	37	chr22	50986680	50986680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccgggagccccgtgggtCccagcacttccacacactct	9	18	1	0			TCGA-3B-A9HR-01A-11D-A387-09	TCGA-3B-A9HR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4355e545-4c5a-46c9-9bfa-a862afc22ae2	f3905e19-7e5a-43f6-8bd5-778ea63193c5	g.chr22:50986680C>T	ENST00000395676.2	+	1	219	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	29										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCGTGGGTCCCAGCACTTC	0.622																																																	0								ENSG00000130487						50	53	52					22																	50986680		692	1591	2283	KLHDC7B	SO:0001583	missense	0			-	HGNC	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.85C>T	22.37:g.50986680C>T	ENSP00000379034:p.Pro29Ser	Somatic	0	88	0		0.557110521206464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	58	30.95		Missense_Mutation	SNP							pfam_Kelch_1,smart_Kelch_1	p.P29S	ENST00000395676.2	37	c.85	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958041	0.34565	.	.	ENSG00000130487	ENST00000395676	D	0.88201	-2.35	3.63	0.0014	0.14046	.	.	.	.	.	T	0.76521	0.3999	N	0.24115	0.695	0.09310	N	1	B	0.25312	0.123	B	0.17979	0.02	T	0.60924	-0.7166	9	0.25751	T	0.34	.	4.3524	0.11162	0.0:0.5854:0.1883:0.2262	.	29	Q96G42	KLD7B_HUMAN	S	29	ENSP00000379034:P29S	ENSP00000379034:P29S	P	+	1	0	KLHDC7B	49333546	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	0.699000	0.25586	0.215000	0.20761	0.485000	0.47835	CCC	-	NULL		0.622	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	protein_coding	OTTHUMT00000317089.2	C	NM_138433	-		50986680	1	no_errors	ENST00000395676	ensembl	human	known	74_37	missense	SNP	0.004	T	T	50986680	C	T	50986680	3	4	7	1	0	0	0	0	1	0	0	0	8363	855	30	2	87	2	KLHDC7B	22	50986680	Missense_Mutation	SNP	C	TCGA-3B-A9HR-01A-11D-A387-09	9070506	50986680	317886	45	366											
PRAMEF12	390999	genome.wustl.edu	37	chr1	12837633	12837633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacttaaggcagcccaagaTtattgtgttcagcactgtcc	10	10	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr1:12837633T>A	ENST00000357726.4	+	3	1370	c.1343T>A	c.(1342-1344)aTt>aAt	p.I448N		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	448					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(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCCAAGATTATTGTGTTC	0.552																																																	0								ENSG00000116726						126	126	126					1																	12837633		2203	4300	6503	PRAMEF12	SO:0001583	missense	0			-	HGNC		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1343T>A	1.37:g.12837633T>A	ENSP00000350358:p.Ile448Asn	Somatic	0	73	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	18.18		Missense_Mutation	SNP							NULL	p.I448N	ENST00000357726.4	37	c.1343	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	3.456	-0.111037	0.06881	.	.	ENSG00000116726	ENST00000357726	T	0.46819	0.86	2.73	-5.46	0.02608	.	2.279220	0.02196	N	0.061819	T	0.19685	0.0473	N	0.03608	-0.345	0.09310	N	1	B	0.21753	0.06	B	0.23574	0.047	T	0.11348	-1.0591	10	0.15499	T	0.54	.	2.3184	0.04204	0.1487:0.4682:0.1309:0.2522	.	448	O95522	PRA12_HUMAN	N	448	ENSP00000350358:I448N	ENSP00000350358:I448N	I	+	2	0	PRAMEF12	12760220	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.138000	0.01303	-2.096000	0.00852	-1.309000	0.01313	ATT	-	NULL		0.552	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	protein_coding	OTTHUMT00000005457.1	T	XM_372760	-		12837633	1	no_errors	ENST00000357726	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12837633	T	A	12837633	3	1	8	1	0	0	0	0	1	0	0	0	12433	1493	52	5	1353	5	PRAMEF12	1	12837633	Missense_Mutation	SNP	T	TCGA-3B-A9HS-01A-11D-A38Z-09		12837633	236412988	1	367											
IGSF21	84966	genome.wustl.edu	37	chr1	18691829	18691829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcagccttctgcaccGtgacctggatgacaccaaga	9	15	1	3			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr1:18691829G>A	ENST00000251296.1	+	6	1036	c.653G>A	c.(652-654)cGt>cAt	p.R218H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	218						extracellular region (GO:0005576)				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)		CTTCTGCACCGTGACCTGGAT	0.662																																																	0								ENSG00000117154						50	56	54					1																	18691829		2203	4300	6503	IGSF21	SO:0001583	missense	0			-	HGNC	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.653G>A	1.37:g.18691829G>A	ENSP00000251296:p.Arg218His	Somatic	0	41	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8NBR8	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R218H	ENST00000251296.1	37	c.653	CCDS184.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545454	0.86022	.	.	ENSG00000117154	ENST00000251296	T	0.59906	0.23	5.03	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.66196	0.942	T	0.62627	-0.6814	10	0.45353	T	0.12	-13.3939	12.2106	0.54377	0.0845:0.0:0.9155:0.0	.	218	Q96ID5	IGS21_HUMAN	H	218	ENSP00000251296:R218H	ENSP00000251296:R218H	R	+	2	0	IGSF21	18564416	1.000000	0.71417	0.833000	0.33012	0.988000	0.76386	8.905000	0.92613	1.244000	0.43870	0.561000	0.74099	CGT	-	NULL		0.662	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF21	protein_coding	OTTHUMT00000006924.1	G	NM_032880	-		18691829	1	no_errors	ENST00000251296	ensembl	human	known	74_37	missense	SNP	0.995	A	A	18691829	G	A	18691829	3	1	8	1	0	0	0	0	1	0	0	0	7601	1145	40	1	675	1	IGSF21	1	18691829	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	5854196	18691829	230558792	2	368											
ORC1L	4998	genome.wustl.edu	37	chr1	52854898	52854898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtagtcttaccgaagctgcTgcctaatccgattcatagtc	8	11	2	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr1:52854898T>A	ENST00000371568.3	-	7	1396	c.1178A>T	c.(1177-1179)cAg>cTg	p.Q393L	ORC1_ENST00000371566.1_Missense_Mutation_p.Q393L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	393					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGAAGCTGCTGCCTAATCCG	0.443																																																	0								ENSG00000085840						151	130	137					1																	52854898		2203	4300	6503	ORC1	SO:0001583	missense	0			-	HGNC		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1178A>T	1.37:g.52854898T>A	ENSP00000360623:p.Gln393Leu	Somatic	0	34	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP							pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.Q393L	ENST00000371568.3	37	c.1178	CCDS566.1	1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.064493	0.36470	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.43294	0.95;0.95	4.41	3.29	0.37713	.	0.367561	0.33457	N	0.004882	T	0.35248	0.0925	M	0.66939	2.045	0.35114	D	0.766386	B;B	0.32717	0.258;0.381	B;B	0.26969	0.075;0.075	T	0.46938	-0.9155	10	0.46703	T	0.11	-11.9877	6.9356	0.24464	0.0:0.1021:0.0:0.8979	.	393;393	B7Z8H0;Q13415	.;ORC1_HUMAN	L	393	ENSP00000360623:Q393L;ENSP00000360621:Q393L	ENSP00000360621:Q393L	Q	-	2	0	ORC1	52627486	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	1.773000	0.38563	1.024000	0.39682	-0.274000	0.10170	CAG	-	NULL		0.443	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	protein_coding	OTTHUMT00000022202.1	T	NM_004153	-		52854898	-1	no_errors	ENST00000371566	ensembl	human	known	74_37	missense	SNP	0.998	A	A	52854898	T	A	52854898	3	1	8	1	0	0	0	0	1	0	0	0	11263	1580	55	5	1451	5	ORC1L	1	52854898	Missense_Mutation	SNP	T	TCGA-3B-A9HS-01A-11D-A38Z-09	34163069	52854898	196395723	3	369											
DBT	1629	genome.wustl.edu	37	chr1	100671856	100671856	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcaaaggtaccaccaAtctattttttaaaaaaaaaa	5	6	1	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr1:100671856A>G	ENST00000370132.4	-	10	1224	c.1211T>C	c.(1210-1212)aTt>aCt	p.I404T		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	404					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GGTACCACCAATCtatttttt	0.328																																																	0								ENSG00000137992						52	53	53					1																	100671856		2203	4300	6503	DBT	SO:0001630	splice_region_variant	0			-	HGNC	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1210-1T>C	1.37:g.100671856A>G		Somatic	0	90	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	52	30.67	B2R811|Q5VVL8	Missense_Mutation	SNP							pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.I404T	ENST00000370132.4	37	c.1211	CCDS767.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071790	0.76301	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.45668	0.89	5.97	5.97	0.96955	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.91300	3.195	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.992;0.994	T	0.75850	-0.3172	10	0.72032	D	0.01	-25.0619	16.4608	0.84044	1.0:0.0:0.0:0.0	.	223;404	F5H1F9;P11182	.;ODB2_HUMAN	T	223;404	ENSP00000359151:I404T	ENSP00000359151:I404T	I	-	2	0	DBT	100444444	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.855000	0.92236	2.288000	0.76882	0.533000	0.62120	ATT	-	pfam_2-oxoacid_DH_actylTfrase		0.328	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBT	protein_coding	OTTHUMT00000030101.2	A	NM_001918	-	Missense_Mutation	100671856	-1	no_errors	ENST00000370132	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100671856	A	G	100671856	5	3	8	1	0	0	0	0	0	0	1	0	4260	115	4	5	245	5	DBT	1	100671856	Splice_Site	SNP	A	TCGA-3B-A9HS-01A-11D-A38Z-09	47816958	100671856	148578765	4	370											
RBM15	64783	genome.wustl.edu	37	chr1	110883880	110883880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatagcctagatcgcaggcGggatggttggtccttggacc	16	9	0	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr1:110883880G>T	ENST00000369784.3	+	1	2753	c.1853G>T	c.(1852-1854)cGg>cTg	p.R618L	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.R618L|RBM15_ENST00000487146.2_Missense_Mutation_p.R618L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	618	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATCGCAGGCGGGATGGTTGG	0.617			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0								ENSG00000162775						46	44	45					1																	110883880		2203	4300	6503	RBM15	SO:0001583	missense	0			-	HGNC	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1853G>T	1.37:g.110883880G>T	ENSP00000358799:p.Arg618Leu	Somatic	0	38	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP							pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R618L	ENST00000369784.3	37	c.1853	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022553	0.54683	.	.	ENSG00000162775	ENST00000369784	T	0.20200	2.09	4.77	4.77	0.60923	.	0.000000	0.42172	D	0.000757	T	0.14013	0.0339	L	0.48642	1.525	0.45205	D	0.998211	P;P	0.52170	0.951;0.918	P;B	0.45377	0.478;0.286	T	0.01378	-1.1370	10	0.40728	T	0.16	-8.3528	13.6747	0.62447	0.0:0.1549:0.8451:0.0	.	618;618	Q96T37-3;Q96T37	.;RBM15_HUMAN	L	618	ENSP00000358799:R618L	ENSP00000358799:R618L	R	+	2	0	RBM15	110685403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.108000	0.64609	2.480000	0.83734	0.655000	0.94253	CGG	-	NULL		0.617	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	protein_coding	OTTHUMT00000031114.2	G	NM_022768	-		110883880	1	no_errors	ENST00000369784	ensembl	human	known	74_37	missense	SNP	0.998	T	T	110883880	G	T	110883880	3	4	8	1	0	0	0	0	1	0	0	0	13124	1116	39	3	1855	3	RBM15	1	110883880	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	10212024	110883880	138366741	5	371											
BGLAP	632	genome.wustl.edu	37	chr1	156212062	156212062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccctattggccctggccGcactttgcatcgctggccag	11	16	0	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr1:156212062G>A	ENST00000368272.4	+	1	310	c.40G>A	c.(40-42)Gca>Aca	p.A14T	PMF1_ENST00000567140.1_Intron|PAQR6_ENST00000492619.1_5'Flank|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	14					bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GGCCCTGGCCGCACTTTGCAT	0.672																																																	0								ENSG00000242252						66	51	56					1																	156212062		2202	4299	6501	BGLAP	SO:0001583	missense	0			-	HGNC	X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"osteocalcin"	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819	ENST00000368272.4:c.40G>A	1.37:g.156212062G>A	ENSP00000357255:p.Ala14Thr	Somatic	0	16	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	17	51.43	Q5TCK6	Missense_Mutation	SNP							pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_Osteocalcin/MGP	p.A14T	ENST00000368272.4	37	c.40	CCDS1134.1	1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201356	0.38905	.	.	ENSG00000242252	ENST00000368272	T	0.45668	0.89	4.77	-2.64	0.06114	.	.	.	.	.	T	0.11239	0.0274	N	0.25380	0.74	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.33240	-0.9876	9	0.38643	T	0.18	.	10.8847	0.46960	0.621:0.0:0.379:0.0	.	14	P02818	OSTCN_HUMAN	T	14	ENSP00000357255:A14T	ENSP00000357255:A14T	A	+	1	0	BGLAP	154478686	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.006000	0.12833	-0.629000	0.05575	-1.267000	0.01435	GCA	-	NULL		0.672	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGLAP	protein_coding	OTTHUMT00000040867.2	G	NM_199173	-		156212062	1	no_errors	ENST00000368272	ensembl	human	known	74_37	missense	SNP	0.003	A	A	156212062	G	A	156212062	3	1	8	1	0	0	0	0	1	0	0	0	1417	1087	38	1	42	1	BGLAP	1	156212062	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	45328182	156212062	93038559	6	372											
MAL	4118	genome.wustl.edu	37	chr2	95719133	95719133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttggttccaggtgttctCctacatagccactctgctct	7	14	4	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr2:95719133C>T	ENST00000309988.4	+	4	504	c.395C>T	c.(394-396)tCc>tTc	p.S132F	MAL_ENST00000353004.3_Missense_Mutation_p.S90F|MAL_ENST00000354078.3_Missense_Mutation_p.S76F|AC103563.9_ENST00000442200.1_RNA|MAL_ENST00000349807.3_Missense_Mutation_p.S34F	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	132	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)		CAGGTGTTCTCCTACATAGCC	0.532																																																	0								ENSG00000172005						236	217	223					2																	95719133		2203	4300	6503	MAL	SO:0001583	missense	0			-	HGNC		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.395C>T	2.37:g.95719133C>T	ENSP00000310880:p.Ser132Phe	Somatic	0	62	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	50	39.76	Q6FH77	Missense_Mutation	SNP							pfam_Marvel,prints_MAL	p.S132F	ENST00000309988.4	37	c.395	CCDS2006.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336498	0.81801	.	.	ENSG00000172005	ENST00000309988;ENST00000353004;ENST00000354078;ENST00000349807	T;T	0.45276	1.75;0.9	5.57	5.57	0.84162	Marvel (1);MARVEL-like domain (1);	0.475476	0.25205	N	0.032352	T	0.62756	0.2454	M	0.78049	2.395	0.09310	N	1	P;P;P;P	0.52463	0.514;0.915;0.942;0.953	P;P;P;P	0.59761	0.452;0.784;0.684;0.863	T	0.59386	-0.7464	10	0.87932	D	0	.	15.4703	0.75437	0.0:1.0:0.0:0.0	.	34;90;76;132	P21145-4;P21145-2;P21145-3;P21145	.;.;.;MAL_HUMAN	F	132;90;76;34	ENSP00000310880:S132F;ENSP00000306568:S90F	ENSP00000310880:S132F	S	+	2	0	MAL	95082860	0.356000	0.24930	0.016000	0.15963	0.969000	0.65631	4.313000	0.59160	2.808000	0.96608	0.650000	0.86243	TCC	-	pfam_Marvel,prints_MAL		0.532	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAL	protein_coding	OTTHUMT00000254982.3	C	NM_002371	-		95719133	1	no_errors	ENST00000309988	ensembl	human	known	74_37	missense	SNP	0.144	T	T	95719133	C	T	95719133	3	4	8	1	0	0	0	0	1	0	0	0	9201	855	30	2	409	2	MAL	2	95719133	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09		95719133	147480240	7	373											
ECE2	9718	genome.wustl.edu	37	chr3	184002758	184002758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttctttcaggctctggCgccctccatggactggcttg	10	12	3	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr3:184002758C>T	ENST00000402825.3	+	9	1367	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	ECE2_ENST00000404464.3_Missense_Mutation_p.A338V|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.A309V|ECE2_ENST00000357474.5_Missense_Mutation_p.A384V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	456	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCTCTGGCGCCCTCCATG	0.542											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000145194						65	65	65					3																	184002758		2203	4300	6503	ECE2	SO:0001583	missense	0			-	HGNC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1367C>T	3.37:g.184002758C>T	ENSP00000384223:p.Ala456Val	Somatic	0	44	0	1988	0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.A456V	ENST00000402825.3	37	c.1367	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961248	0.34565	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	4.21	3.32	0.38043	Peptidase M13 (1);	0.115420	0.64402	D	0.000019	T	0.62048	0.2396	N	0.22421	0.69	0.54753	D	0.999984	D;D;D;P;D;D;D	0.63046	0.985;0.992;0.985;0.743;0.991;0.981;0.992	B;P;B;B;P;B;P	0.49829	0.325;0.623;0.325;0.066;0.488;0.218;0.623	T	0.61783	-0.6992	10	0.02654	T	1	-17.3667	12.0082	0.53272	0.1746:0.8254:0.0:0.0	.	58;309;327;338;384;309;456	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	V	456;309;338;384;330	ENSP00000384223:A456V;ENSP00000352052:A309V;ENSP00000385846:A338V;ENSP00000350066:A384V;ENSP00000398444:A330V	ENSP00000350066:A384V	A	+	2	0	ECE2	185485452	0.999000	0.42202	0.877000	0.34402	0.977000	0.68977	4.230000	0.58632	0.962000	0.38057	0.643000	0.83706	GCG	-	pfam_Peptidase_M13_N		0.542	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	C	NM_014693	-		184002758	1	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	SNP	0.891	T	T	184002758	C	T	184002758	3	4	8	1	0	0	0	0	1	0	0	0	4892	768	27	1	1965	1	ECE2	3	184002758	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09		184002758	14019672	8	374											
CORIN	10699	genome.wustl.edu	37	chr4	47625635	47625635	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccacttcttggcaatgagGacacagccacagatatgtcc	8	13	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr4:47625635G>A	ENST00000273857.4	-	19	2492	c.2493C>T	c.(2491-2493)gtC>gtT	p.V831V	CORIN_ENST00000508498.1_Silent_p.V692V|CORIN_ENST00000505909.1_Silent_p.V794V|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Silent_p.V764V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	831	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						TGGCAATGAGGACACAGCCAC	0.517																																																	0								ENSG00000145244						106	101	103					4																	47625635		2203	4300	6503	CORIN	SO:0001819	synonymous_variant	0			-	HGNC	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.2493C>T	4.37:g.47625635G>A		Somatic	0	39	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.11	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP							pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.V831	ENST00000273857.4	37	c.2493	CCDS3477.1	4																																																																																			-	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1		0.517	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	protein_coding	OTTHUMT00000216906.2	G		-		47625635	-1	no_errors	ENST00000273857	ensembl	human	known	74_37	silent	SNP	0.992	A	A	47625635	G	A	47625635	2	1	8	1	0	0	0	0	0	0	0	1	3754	1161	41	2		2	CORIN	4	47625635	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		47625635	143528641	9	375											
PALLD	23022	genome.wustl.edu	37	chr4	169846211	169846211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggattgtgtcctgtactGccaggctggacgtttacagt	13	9	0	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr4:169846211G>T	ENST00000505667.1	+	20	3513	c.3340G>T	c.(3340-3342)Gcc>Tcc	p.A1114S	PALLD_ENST00000335742.7_Missense_Mutation_p.A939S|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.A610S|PALLD_ENST00000512127.1_Missense_Mutation_p.A715S|PALLD_ENST00000261509.6_Missense_Mutation_p.A1097S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1321					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCCTGTACTGCCAGGCTGGA	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0								ENSG00000129116						132	126	128					4																	169846211		2203	4300	6503	PALLD	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	-	HGNC	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3340G>T	4.37:g.169846211G>T	ENSP00000425556:p.Ala1114Ser	Somatic	0	51	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	100	9.91	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A1097S	ENST00000505667.1	37	c.3289	CCDS54818.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.934556|4.934556	0.92458|0.92458	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735|ENST00000503290	T;T;T;T;T|.	0.70516|.	-0.49;-0.49;-0.49;-0.49;-0.49|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.31897|.	U|.	0.006890|.	T|T	0.77478|0.77478	0.4136|0.4136	M|M	0.74546|0.74546	2.27|2.27	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|.	0.91635|.	0.999;0.998;0.998;0.999|.	T|T	0.76225|0.76225	-0.3037|-0.3037	10|5	0.49607|.	T|.	0.09|.	.|.	19.6074|19.6074	0.95586|0.95586	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1114;1321;715;1097|.	B7ZMM5;Q8WX93;B3KTG2;B2RTX2|.	.;PALLD_HUMAN;.;.|.	S|F	1097;939;1114;715;610|150	ENSP00000261509:A1097S;ENSP00000336735:A939S;ENSP00000425556:A1114S;ENSP00000426947:A715S;ENSP00000424016:A610S|.	ENSP00000261509:A1097S|.	A|C	+|+	1|2	0|0	PALLD|PALLD	170082786|170082786	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.800000|0.800000	0.45204|0.45204	9.869000|9.869000	0.99810|0.99810	2.627000|2.627000	0.88993|0.88993	0.650000|0.650000	0.86243|0.86243	GCC|TGC	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	protein_coding	OTTHUMT00000363762.1	G	NM_016081	-		169846211	1	no_errors	ENST00000261509	ensembl	human	known	74_37	missense	SNP	1.000	T	T	169846211	G	T	169846211	3	4	8	1	0	0	0	0	1	0	0	0	11409	1319	46	3	3921	3	PALLD	4	169846211	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	122220576	169846211	21308065	10	376											
DAB2	1601	genome.wustl.edu	37	chr5	39394370	39394370	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggtgcttttggtgcgGcctgttggtcgggctgacca	17	8	0	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr5:39394370G>C	ENST00000320816.6	-	2	520	c.53C>G	c.(52-54)gCc>gGc	p.A18G	DAB2_ENST00000545653.1_Missense_Mutation_p.A18G|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Missense_Mutation_p.A18G|DAB2_ENST00000509337.1_Missense_Mutation_p.A18G	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	18					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)			TTTTGGTGCGGCCTGTTGGTC	0.493																																																	0								ENSG00000153071						162	141	148					5																	39394370		2203	4300	6503	DAB2	SO:0001583	missense	0			-	HGNC	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.53C>G	5.37:g.39394370G>C	ENSP00000313391:p.Ala18Gly	Somatic	0	35	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	85	13.27	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A18G	ENST00000320816.6	37	c.53	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916673	0.73098	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337;ENST00000511792;ENST00000503513;ENST00000515700	T;T;T;T	0.38401	1.14;1.2;1.14;1.14	5.93	5.93	0.95920	.	0.528179	0.21802	N	0.068910	T	0.47303	0.1438	L	0.46157	1.445	0.37699	D	0.924144	P;P	0.52061	0.651;0.95	B;P	0.50708	0.15;0.648	T	0.47182	-0.9137	10	0.56958	D	0.05	-15.4919	20.34	0.98759	0.0:0.0:1.0:0.0	.	18;18	P98082;P98082-3	DAB2_HUMAN;.	G	18	ENSP00000313391:A18G;ENSP00000345508:A18G;ENSP00000439919:A18G;ENSP00000426245:A18G	ENSP00000313391:A18G	A	-	2	0	DAB2	39430127	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.961000	0.63681	2.817000	0.96982	0.561000	0.74099	GCC	-	NULL		0.493	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	protein_coding	OTTHUMT00000367014.1	G	NM_001343	-		39394370	-1	no_errors	ENST00000320816	ensembl	human	known	74_37	missense	SNP	0.995	C	C	39394370	G	C	39394370	3	2	8	1	0	0	0	0	1	0	0	0	4220	1203	42	4	2311	4	DAB2	5	39394370	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		39394370	141520890	11	377											
RGNEF	64283	genome.wustl.edu	37	chr5	73045768	73045768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgacatgtcatgattgCagagcgcatcgaggataacg	12	9	2	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr5:73045768C>T	ENST00000426542.2	+	2	160	c.140C>T	c.(139-141)gCa>gTa	p.A47V	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A47V|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A47V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A47V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A47V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A47V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	47					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)										GTCATGATTGCAGAGCGCATC	0.448																																																	0								ENSG00000214944						175	175	175					5																	73045768		2108	4244	6352	ARHGEF28	SO:0001583	missense	0			-	HGNC		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.140C>T	5.37:g.73045768C>T	ENSP00000412175:p.Ala47Val	Somatic	0	25	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A47V	ENST00000426542.2	37	c.140	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865423	0.71949	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000509848;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.15952	2.62;2.62;2.62;2.38;2.62;2.62	5.35	5.35	0.76521	.	.	.	.	.	T	0.42086	0.1187	M	0.64997	1.995	0.37174	D	0.903192	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.993;0.998	T	0.44236	-0.9341	9	0.66056	D	0.02	.	18.6881	0.91573	0.0:1.0:0.0:0.0	.	47;47;47;47	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	V	47	ENSP00000296794:A47V;ENSP00000441913:A47V;ENSP00000441436:A47V;ENSP00000287898:A47V;ENSP00000411459:A47V;ENSP00000412175:A47V	ENSP00000287898:A47V	A	+	2	0	RP11-428C6.1	73081524	0.998000	0.40836	0.287000	0.24848	0.359000	0.29487	4.918000	0.63376	2.529000	0.85273	0.655000	0.94253	GCA	-	NULL		0.448	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	C		-		73045768	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	0.946	T	T	73045768	C	T	73045768	3	4	8	1	0	0	0	0	1	0	0	0	13291	710	25	2	146	2	RGNEF	5	73045768	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	33651398	73045768	107869492	12	378											
LMNB1	4001	genome.wustl.edu	37	chr5	126154807	126154807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaaatcagtgcttacaGgaaactcttagaaggcgaag	11	7	2	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr5:126154807G>A	ENST00000261366.5	+	6	1494	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K	LMNB1_ENST00000395354.1_Missense_Mutation_p.R378K|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	378	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGTGCTTACAGGAAACTCTTA	0.413																																																	0								ENSG00000113368						84	83	84					5																	126154807		2203	4300	6503	LMNB1	SO:0001583	missense	0			-	HGNC	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1133G>A	5.37:g.126154807G>A	ENSP00000261366:p.Arg378Lys	Somatic	0	21	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	15	62.50	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP							pfam_IF,pfam_Lamin_tail_dom	p.R378K	ENST00000261366.5	37	c.1133	CCDS4140.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.291023	0.95546	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.94184	-3.37;-3.37	5.74	4.88	0.63580	Filament (1);Intermediate filament protein, conserved site (1);	0.049512	0.85682	D	0.000000	D	0.97247	0.9100	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97942	1.0326	10	0.62326	D	0.03	.	15.0508	0.71867	0.0681:0.0:0.9319:0.0	.	378	P20700	LMNB1_HUMAN	K	378	ENSP00000261366:R378K;ENSP00000378761:R378K	ENSP00000261366:R378K	R	+	2	0	LMNB1	126182706	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	9.813000	0.99286	1.576000	0.49790	0.563000	0.77884	AGG	-	pfam_IF		0.413	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	protein_coding	OTTHUMT00000250956.2	G	NM_005573	-		126154807	1	no_errors	ENST00000261366	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126154807	G	A	126154807	3	1	8	1	0	0	0	0	1	0	0	0	8851	1000	35	2	1155	2	LMNB1	5	126154807	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	53109039	126154807	54760453	13	379											
RAPGEF6	51735	genome.wustl.edu	37	chr5	130764659	130764659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatggctgcaaattatgCctctgaggctgagttacaat	11	7	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr5:130764659C>T	ENST00000509018.1	-	27	4921	c.4716G>A	c.(4714-4716)agG>agA	p.R1572R	RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Silent_p.R1622R|RAPGEF6_ENST00000296859.6_Silent_p.R1580R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1572					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAATTATGCCTCTGAGGCT	0.458																																					Melanoma(168;435 1955 13113 13877 23213)												0								ENSG00000158987						133	123	126					5																	130764659		2203	4300	6503	RAPGEF6	SO:0001819	synonymous_variant	0			-	HGNC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4716G>A	5.37:g.130764659C>T		Somatic	0	27	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP							pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R1572	ENST00000509018.1	37	c.4716	CCDS34225.1	5																																																																																			-	NULL		0.458	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	protein_coding	OTTHUMT00000370059.1	C	NM_016340	-		130764659	-1	no_errors	ENST00000509018	ensembl	human	known	74_37	silent	SNP	1.000	T	T	130764659	C	T	130764659	2	4	8	1	0	0	0	0	0	0	0	1	13056	738	26	2		2	RAPGEF6	5	130764659	Silent	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	4609852	130764659	50150601	14	380											
GABRB2	2561	genome.wustl.edu	37	chr5	160761819	160761819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagacccaggagaggaTggtaatcaggatggaaggca	17	5	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr5:160761819T>A	ENST00000393959.1	-	7	771	c.772A>T	c.(772-774)Atc>Ttc	p.I258F	GABRB2_ENST00000520240.1_Missense_Mutation_p.I258F|GABRB2_ENST00000353437.6_Missense_Mutation_p.I258F|GABRB2_ENST00000517547.1_Missense_Mutation_p.I98F|GABRB2_ENST00000274547.2_Missense_Mutation_p.I258F|GABRB2_ENST00000517901.1_Missense_Mutation_p.I195F			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	258					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Fospropofol(DB06716)|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)	CAGGAGAGGATGGTAATCAGG	0.438																																																	0								ENSG00000145864						184	166	173					5																	160761819		2203	4300	6503	GABRB2	SO:0001583	missense	0			-	HGNC		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.772A>T	5.37:g.160761819T>A	ENSP00000377531:p.Ile258Phe	Somatic	0	78	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.I258F	ENST00000393959.1	37	c.772	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926117	0.92319	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	N	0.20986	0.625	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;1.0;0.999	D;D;D;D	0.87578	0.996;0.995;0.998;0.991	D	0.90829	0.4715	10	0.87932	D	0	.	15.3443	0.74324	0.0:0.0:0.0:1.0	.	98;195;258;258	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	F	258;258;258;258;195;98	ENSP00000377531:I258F;ENSP00000274547:I258F;ENSP00000274546:I258F;ENSP00000429320:I258F;ENSP00000430532:I195F;ENSP00000429750:I98F	ENSP00000274547:I258F	I	-	1	0	GABRB2	160694397	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.939000	0.87685	2.015000	0.59207	0.528000	0.53228	ATC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.438	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	protein_coding	OTTHUMT00000252704.1	T		-		160761819	-1	no_errors	ENST00000274547	ensembl	human	known	74_37	missense	SNP	1.000	A	A	160761819	T	A	160761819	3	1	8	1	0	0	0	0	1	0	0	0	6169	1464	51	5	782	5	GABRB2	5	160761819	Missense_Mutation	SNP	T	TCGA-3B-A9HS-01A-11D-A38Z-09	29997160	160761819	20153441	15	381											
GPR116	221395	genome.wustl.edu	37	chr6	46832779	46832779	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaatttaaaacgttcttacCaggaaccagattcagcttca	6	9	3	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr6:46832779C>A	ENST00000283296.7	-	14	2278	c.1990G>T	c.(1990-1992)Ggg>Tgg	p.G664W	GPR116_ENST00000456426.2_Splice_Site_p.G522W|GPR116_ENST00000362015.4_Splice_Site_p.G664W|GPR116_ENST00000265417.7_Splice_Site_p.G664W|GPR116_ENST00000545669.1_Splice_Site_p.G93W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	664					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACGTTCTTACCAGGAACCAGA	0.363																																					NSCLC(59;410 1274 8751 36715 50546)												0								ENSG00000069122						128	113	118					6																	46832779		2203	4300	6503	GPR116	SO:0001630	splice_region_variant	0			-	HGNC	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1990+1G>T	6.37:g.46832779C>A		Somatic	0	54	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	51	22.73	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.G664W	ENST00000283296.7	37	c.1990	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483723	0.44147	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417;ENST00000545669	T;T;T;T;T	0.28666	1.64;2.02;1.64;1.64;1.6	5.91	5.03	0.67393	.	0.828570	0.10842	N	0.628083	T	0.17109	0.0411	M	0.62723	1.935	0.30798	N	0.740237	B;B;B;B;B	0.22080	0.008;0.011;0.01;0.064;0.01	B;B;B;B;B	0.21917	0.024;0.01;0.001;0.037;0.001	T	0.13683	-1.0500	9	.	.	.	-1.8338	12.612	0.56556	0.0:0.9218:0.0:0.0782	.	93;219;664;522;664	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	W	664;664;664;522;664;93	ENSP00000283296:G664W;ENSP00000354563:G664W;ENSP00000412866:G522W;ENSP00000265417:G664W;ENSP00000441581:G93W	.	G	-	1	0	GPR116	46940738	0.992000	0.36948	1.000000	0.80357	0.965000	0.64279	2.594000	0.46189	1.493000	0.48517	0.644000	0.83932	GGG	-	NULL		0.363	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	C	NM_015234	-	Missense_Mutation	46832779	-1	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46832779	C	A	46832779	5	1	8	1	0	0	0	0	0	0	1	0	6635	608	21	3	2082	3	GPR116	6	46832779	Splice_Site	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09		46832779	124282288	16	382											
MCM3	4172	genome.wustl.edu	37	chr6	52142390	52142390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccattttctaggtctcgttCcacccctcccaagagcaagc	7	16	2	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr6:52142390C>T	ENST00000229854.7	-	7	1052	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	MCM3_ENST00000419835.2_Missense_Mutation_p.E280K|MCM3_ENST00000596288.1_Missense_Mutation_p.E371K|MCM3_ENST00000476448.1_5'UTR			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	326	MCM.				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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AGGTCTCGTTCCACCCCTCCC	0.478																																																	0								ENSG00000112118						117	101	107					6																	52142390		2203	4300	6503	MCM3	SO:0001583	missense	0			-	HGNC	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.976G>A	6.37:g.52142390C>T	ENSP00000229854:p.Glu326Lys	Somatic	0	75	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	54	26.03	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP							pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.E371K	ENST00000229854.7	37	c.1111		6	.	.	.	.	.	.	.	.	.	.	C	36	5.737834	0.96865	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06218	3.33;3.33	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.00214	-1.1912	10	0.52906	T	0.07	-15.3088	19.6941	0.96016	0.0:1.0:0.0:0.0	.	280;326	B4DUQ9;P25205	.;MCM3_HUMAN	K	326;280	ENSP00000229854:E326K;ENSP00000388647:E280K	ENSP00000229854:E326K	E	-	1	0	MCM3	52250349	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.651000	0.83577	2.885000	0.99019	0.655000	0.94253	GAA	-	pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase		0.478	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	protein_coding	OTTHUMT00000470784.1	C		-		52142390	-1	no_errors	ENST00000596288	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52142390	C	T	52142390	3	4	8	1	0	0	0	0	1	0	0	0	9389	864	30	2	1494	2	MCM3	6	52142390	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	5309611	52142390	118972677	17	383											
CTGF	1490	genome.wustl.edu	37	chr6	132271222	132271222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtcttggaacaggcgCtccactctgtggtctggacc	12	13	3	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr6:132271222C>T	ENST00000367976.3	-	4	820	c.620G>A	c.(619-621)aGc>aAc	p.S207N	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	207	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GGAACAGGCGCTCCACTCTGT	0.577											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)												0								ENSG00000118523						74	68	70					6																	132271222		2203	4300	6503	CTGF	SO:0001583	missense	0			-	HGNC	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.620G>A	6.37:g.132271222C>T	ENSP00000356954:p.Ser207Asn	Somatic	0	39	0	1594	0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	69	11.54	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP							pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.S207N	ENST00000367976.3	37	c.620	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278664	0.80692	.	.	ENSG00000118523	ENST00000367976	T	0.63744	-0.06	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86091	0.5850	H	0.97465	4.01	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.90617	0.4556	10	0.87932	D	0	.	19.4542	0.94880	0.0:1.0:0.0:0.0	.	207	P29279	CTGF_HUMAN	N	207	ENSP00000356954:S207N	ENSP00000356954:S207N	S	-	2	0	CTGF	132312915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.671000	0.90904	0.555000	0.69702	AGC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt		0.577	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	protein_coding	OTTHUMT00000042239.2	C	NM_001901	-		132271222	-1	no_errors	ENST00000367976	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132271222	C	T	132271222	3	4	8	1	0	0	0	0	1	0	0	0	4010	797	28	2	437	2	CTGF	6	132271222	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	80128832	132271222	38843845	18	384											
RAET1G	353091	genome.wustl.edu	37	chr6	150240213	150240213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtgctgtccatgccCatcaagaagtcctcaagcca	9	14	2	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr6:150240213C>A	ENST00000367360.2	-	3	664	c.597G>T	c.(595-597)atG>atT	p.M199I	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.M199I|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		TGTCCATGCCCATCAAGAAGT	0.453																																																	0								ENSG00000203722						197	188	191					6																	150240213		2203	4300	6503	RAET1G	SO:0001583	missense	0			-	HGNC	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.597G>T	6.37:g.150240213C>A	ENSP00000356329:p.Met199Ile	Somatic	0	52	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	86	12.24		Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.M199I	ENST00000367360.2	37	c.597	CCDS43514.1	6	.	.	.	.	.	.	.	.	.	.	C	2.583	-0.296880	0.05532	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.60920	0.15;0.15	2.1	0.0637	0.14350	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.17365	0.0417	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.19148	0.024	T	0.27739	-1.0065	9	0.87932	D	0	.	4.214	0.10526	0.2668:0.4719:0.2613:0.0	.	199	Q6H3X3	RET1G_HUMAN	I	199	ENSP00000356329:M199I;ENSP00000417503:M199I	ENSP00000356329:M199I	M	-	3	0	RAET1G	150281906	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.767000	0.00782	0.001000	0.14605	0.505000	0.49811	ATG	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.453	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1G	protein_coding	OTTHUMT00000042668.2	C		-		150240213	-1	no_errors	ENST00000367360	ensembl	human	known	74_37	missense	SNP	0.000	A	A	150240213	C	A	150240213	3	1	8	1	0	0	0	0	1	0	0	0	13008	594	21	3	419	3	RAET1G	6	150240213	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	17968991	150240213	20874854	19	385											
CPA2	1358	genome.wustl.edu	37	chr7	129908843	129908843	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaattggaggctcaagaacAtctccaggtatttgatctag	9	8	3	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr7:129908843A>T	ENST00000222481.4	+	2	201	c.146A>T	c.(145-147)cAt>cTt	p.H49L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	49					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GCTCAAGAACATCTCCAGGTA	0.363																																																	0								ENSG00000158516						102	98	100					7																	129908843		2203	4300	6503	CPA2	SO:0001583	missense	0			-	HGNC	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.146A>T	7.37:g.129908843A>T	ENSP00000222481:p.His49Leu	Somatic	0	59	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.H49L	ENST00000222481.4	37	c.146	CCDS5817.2	7	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657731	0.47467	.	.	ENSG00000158516	ENST00000222481	T	0.43294	0.95	5.32	5.32	0.75619	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.493395	0.22206	N	0.063175	T	0.41351	0.1155	M	0.67700	2.07	0.43054	D	0.994669	B;B	0.15719	0.014;0.001	B;B	0.18561	0.022;0.005	T	0.27839	-1.0062	10	0.20046	T	0.44	.	12.9401	0.58337	1.0:0.0:0.0:0.0	.	47;49	B4DDX9;P48052	.;CBPA2_HUMAN	L	49	ENSP00000222481:H49L	ENSP00000222481:H49L	H	+	2	0	CPA2	129696079	1.000000	0.71417	0.977000	0.42913	0.783000	0.44284	3.768000	0.55295	2.152000	0.67230	0.459000	0.35465	CAT	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.363	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA2	protein_coding	OTTHUMT00000347124.2	A	NM_001869	-		129908843	1	no_errors	ENST00000222481	ensembl	human	known	74_37	missense	SNP	0.996	T	T	129908843	A	T	129908843	3	4	8	1	0	0	0	0	1	0	0	0	3792	217	8	5	152	5	CPA2	7	129908843	Missense_Mutation	SNP	A	TCGA-3B-A9HS-01A-11D-A38Z-09		129908843	29229820	20	386											
PRSS1	5644	genome.wustl.edu	37	chr7	142460339	142460339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgagccaggctaagtGtgaagcctcctaccctggaa	12	11	0	2	rs200973660		TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr7:142460339G>A	ENST00000311737.7	+	4	518	c.512G>A	c.(511-513)tGt>tAt	p.C171Y	PRSS1_ENST00000486171.1_Missense_Mutation_p.C185Y	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CAGGCTAAGTGTGAAGCCTCC	0.527																																																	0								ENSG00000204983						293	285	288					7																	142460339		2203	4300	6503	PRSS1	SO:0001583	missense	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.512G>A	7.37:g.142460339G>A	ENSP00000308720:p.Cys171Tyr	Somatic	0	60	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	90	10.89	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C171Y	ENST00000311737.7	37	c.512	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153199	0.38021	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.96992	-4.2;-4.2;-2.52	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	185;171	E7EQ64;P07477	.;TRY1_HUMAN	Y	185;171;161;121	ENSP00000417854:C185Y;ENSP00000308720:C171Y;ENSP00000419912:C121Y	ENSP00000308720:C171Y	C	+	2	0	PRSS1	142139913	1.000000	0.71417	0.080000	0.20451	0.020000	0.10135	9.762000	0.98944	1.789000	0.52484	0.398000	0.26397	TGT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.527	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	G		rs200973660		142460339	1	no_errors	ENST00000311737	ensembl	human	known	74_37	missense	SNP	0.978	A	A	142460339	G	A	142460339	3	1	8	1	0	0	0	0	1	0	0	0	12619	1377	48	2	526	2	PRSS1	7	142460339	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	12551496	142460339	16678324	21	387											
KRBA1	84626	genome.wustl.edu	37	chr7	149422472	149422472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagggcattcccccaaatgGgtcgtcaccttcccagctgc	10	15	1	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr7:149422472G>T	ENST00000485033.2	+	9	1193	c.1193G>T	c.(1192-1194)gGg>gTg	p.G398V	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G398V|KRBA1_ENST00000255992.10_Missense_Mutation_p.G398V			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	408										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCCAAATGGGTCGTCACCT	0.587																																																	0								ENSG00000133619						35	39	38					7																	149422472		1990	4171	6161	KRBA1	SO:0001583	missense	0			-	HGNC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1193G>T	7.37:g.149422472G>T	ENSP00000420112:p.Gly398Val	Somatic	0	40	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP							NULL	p.G398V	ENST00000485033.2	37	c.1193		7	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591457	0.13812	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.35973	1.29;1.28;1.28	5.18	-0.168	0.13343	.	0.769092	0.11130	N	0.596439	T	0.25494	0.0620	L	0.32530	0.975	0.19300	N	0.999975	B;B	0.19331	0.035;0.019	B;B	0.14023	0.01;0.01	T	0.19321	-1.0309	10	0.48119	T	0.1	-4.13	8.4474	0.32849	0.0:0.406:0.3131:0.2808	.	398;398	E7ENE9;A5PL33	.;KRBA1_HUMAN	V	398	ENSP00000255992:G398V;ENSP00000317165:G398V;ENSP00000420112:G398V	ENSP00000255992:G398V	G	+	2	0	KRBA1	149053405	0.026000	0.19158	0.000000	0.03702	0.009000	0.06853	-0.101000	0.10973	-0.335000	0.08451	0.655000	0.94253	GGG	-	NULL		0.587	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	protein_coding	OTTHUMT00000349841.3	G	NM_032534	-		149422472	1	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	SNP	0.000	T	T	149422472	G	T	149422472	3	4	8	1	0	0	0	0	1	0	0	0	8441	1232	43	3	1227	3	KRBA1	7	149422472	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	6962133	149422472	9716191	22	388											
RP1	6101	genome.wustl.edu	37	chr8	55537592	55537592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggtttaaagcttgcaGcatgttcattctctgcagat	8	9	3	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr8:55537592G>A	ENST00000220676.1	+	4	1298	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	384					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)			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)			AAAGCTTGCAGCATGTTCATT	0.413																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						73	69	71					8																	55537592		2203	4300	6503	RP1	SO:0001583	missense	0			-	HGNC	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.1150G>A	8.37:g.55537592G>A	ENSP00000220676:p.Ala384Thr	Somatic	0	43	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46		Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A384T	ENST00000220676.1	37	c.1150	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388889	0.04932	.	.	ENSG00000104237	ENST00000220676	T	0.22336	1.96	5.08	-0.714	0.11219	.	0.602886	0.15771	N	0.245438	T	0.13927	0.0337	L	0.48362	1.52	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.16808	-1.0390	10	0.35671	T	0.21	.	4.7153	0.12893	0.3404:0.0:0.4231:0.2365	.	384	P56715	RP1_HUMAN	T	384	ENSP00000220676:A384T	ENSP00000220676:A384T	A	+	1	0	RP1	55700145	0.067000	0.21026	0.005000	0.12908	0.002000	0.02628	1.164000	0.31810	-0.065000	0.13021	-0.895000	0.02911	GCA	-	NULL		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	G	NM_006269	-		55537592	1	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	SNP	0.003	A	A	55537592	G	A	55537592	3	1	8	1	0	0	0	0	1	0	0	0	13540	971	34	2	1160	2	RP1	8	55537592	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		55537592	90826430	23	389											
TM7SF4	81501	genome.wustl.edu	37	chr8	105367287	105367287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaacttaaaatcctggtGtcagcatctttctaccccag	6	12	3	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr8:105367287G>A	ENST00000297581.2	+	3	1261	c.1212G>A	c.(1210-1212)gtG>gtA	p.V404V	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	404					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)											AAATCCTGGTGTCAGCATCTT	0.443																																																	0								ENSG00000164935						143	140	141					8																	105367287		2203	4300	6503	DCSTAMP	SO:0001819	synonymous_variant	0			-	HGNC	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.1212G>A	8.37:g.105367287G>A		Somatic	0	48	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP							pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.V404	ENST00000297581.2	37	c.1212	CCDS6301.1	8																																																																																			-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	protein_coding	OTTHUMT00000380810.1	G	NM_030788	-		105367287	1	no_errors	ENST00000297581	ensembl	human	known	74_37	silent	SNP	0.997	A	A	105367287	G	A	105367287	2	1	8	1	0	0	0	0	0	0	0	1	15983	1364	48	2		2	TM7SF4	8	105367287	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	49829695	105367287	40996735	24	390											
DIP2C	22982	genome.wustl.edu	37	chr10	390977	390979	+	In_Frame_Del	DEL	GCC	GCC	-													gccacgtcctgacgtccacaGccgccgccgcctccctggac							TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr10:390977_390979delGCC	ENST00000280886.6	-	27	3390_3392	c.3303_3305delGGC	c.(3301-3306)gcggct>gct	p.1101_1102AA>A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1101						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1102delA(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACGTCCACAGCCGCCGCCGCCT	0.596																																																	1	Deletion - In frame(1)	large_intestine(1)						ENSG00000151240																																			DIP2C	SO:0001651	inframe_deletion	0				HGNC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3303_3305delGGC	10.37:g.390986_390988delGCC	ENSP00000280886:p.Ala1102del	Somatic	0	39	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	B4DPI5|Q5SS78	In_Frame_Del	DEL							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A1102in_frame_del	ENST00000280886.6	37	c.3305_3303	CCDS7054.1	10																																																																																			-	pfam_AMP-dep_Synth/Lig		0.596	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	protein_coding	OTTHUMT00000046389.1	GCC	NM_014974			390979	-1	no_errors	ENST00000280886	ensembl	human	known	74_37	in_frame_del	DEL	0.979:0.971:0.194	-	-	390979	GCC	-	390977	7	5	8	1	0	1	0	1	0	0	0	0	4531	971	34	0	1409	0	DIP2C	10	390977	In_Frame_Del	DEL	GCC	TCGA-3B-A9HS-01A-11D-A38Z-09		390977	135143770	25	391											
TRIM48	79097	genome.wustl.edu	37	chr11	55036763	55036763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcctctgaatctagcGctcagggcagggcccatcac	10	17	4	1	rs201463527		TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr11:55036763G>A	ENST00000417545.2	+	5	710	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	192						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGAATCTAGCGCTCAGGGCAG	0.488																																																	0								ENSG00000150244	G		0,4192		0,0,2096	47	39	41		624	0.6	0	11		41	2,7954		0,2,3976	no	coding-synonymous	TRIM48	NM_024114.3		0,2,6072	AA,AG,GG		0.0251,0.0,0.0165		208/225	55036763	2,12146	2096	3978	6074	TRIM48	SO:0001819	synonymous_variant	0			-	HGNC	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.624G>A	11.37:g.55036763G>A		Somatic	0	171	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	118	26.25	Q9BUW4	Silent	SNP							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A208	ENST00000417545.2	37	c.624	CCDS7947.2	11																																																																																			-	NULL		0.488	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM48	protein_coding	OTTHUMT00000347088.1	G		rs201463527		55036763	1	no_errors	ENST00000417545	ensembl	human	known	74_37	silent	SNP	0.036	A	A	55036763	G	A	55036763	2	1	8	1	0	0	0	0	0	0	0	1	16530	1074	38	1		1	TRIM48	11	55036763	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		55036763	79969753	26	392											
OVOL1	5017	genome.wustl.edu	37	chr11	65562102	65562102	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctgaaccgccacatgAagtgtcacaacgacgtcaag	10	12	2	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr11:65562102A>T	ENST00000335987.3	+	3	764	c.412A>T	c.(412-414)Aag>Tag	p.K138*	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Nonsense_Mutation_p.K76*	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	138					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CCGCCACATGAAGTGTCACAA	0.577																																																	0								ENSG00000172818						132	98	109					11																	65562102		2201	4297	6498	OVOL1	SO:0001587	stop_gained	0			-	HGNC	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.412A>T	11.37:g.65562102A>T	ENSP00000337862:p.Lys138*	Somatic	0	29	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q6PCB1	Nonsense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K138*	ENST00000335987.3	37	c.412	CCDS8112.1	11	.	.	.	.	.	.	.	.	.	.	A	40	7.942391	0.98574	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-22.153	12.6455	0.56731	1.0:0.0:0.0:0.0	.	.	.	.	X	138;76	.	ENSP00000337862:K138X	K	+	1	0	OVOL1	65318678	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.256000	0.95535	1.875000	0.54330	0.459000	0.35465	AAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL1	protein_coding	OTTHUMT00000390690.1	A	NM_004561	-		65562102	1	no_errors	ENST00000335987	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	65562102	A	T	65562102	4	4	8	1	0	0	0	0	0	1	0	0	11328	247	9	5	422	5	OVOL1	11	65562102	Nonsense_Mutation	SNP	A	TCGA-3B-A9HS-01A-11D-A38Z-09	10525339	65562102	69444414	27	393											
COL2A1	1280	genome.wustl.edu	37	chr12	48380662	48380662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctttgaagccagcaatacCaggttcacccttgaaaagag	8	11	1	3			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:48380662C>A	ENST00000380518.3	-	22	1539	c.1375G>T	c.(1375-1377)Ggt>Tgt	p.G459C	COL2A1_ENST00000337299.6_Missense_Mutation_p.G390C|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	459	Triple-helical region.				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)			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)	CCAGCAATACCAGGTTCACCC	0.567																																																	0								ENSG00000139219						151	153	152					12																	48380662		2203	4300	6503	COL2A1	SO:0001583	missense	0			-	HGNC	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.1375G>T	12.37:g.48380662C>A	ENSP00000369889:p.Gly459Cys	Somatic	0	53	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	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							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G459C	ENST00000380518.3	37	c.1375	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291947	0.80914	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99637	-6.29;-6.29	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96411	0.9304	10	0.87932	D	0	.	15.9765	0.80071	0.0:1.0:0.0:0.0	.	390;459	P02458-1;P02458	.;CO2A1_HUMAN	C	459;390;390	ENSP00000369889:G459C;ENSP00000338213:G390C	ENSP00000338213:G390C	G	-	1	0	COL2A1	46666929	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.654000	0.67974	2.384000	0.81235	0.462000	0.41574	GGT	-	NULL		0.567	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	protein_coding	OTTHUMT00000313810.2	C	NM_001844	-		48380662	-1	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48380662	C	A	48380662	3	1	8	1	0	0	0	0	1	0	0	0	3689	594	21	3	3220	3	COL2A1	12	48380662	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09		48380662	85471233	28	394											
AGAP2	116986	genome.wustl.edu	37	chr12	58131104	58131104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcccggggggctgcgcgGaagcagcggtgacagcagtg	20	11	0	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:58131104G>A	ENST00000547588.1	-	1	925	c.926C>T	c.(925-927)tCc>tTc	p.S309F	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	309	Interaction with PLCG1. {ECO:0000250}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGCTGCGCGGAAGCAGCGGT	0.687																																																	0								ENSG00000135439						41	56	51					12																	58131104		1568	3582	5150	AGAP2	SO:0001583	missense	0			-	HGNC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.926C>T	12.37:g.58131104G>A	ENSP00000449241:p.Ser309Phe	Somatic	0	109	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	163	1307	11.09	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.S309F	ENST00000547588.1	37	c.926	CCDS44932.1	12	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461427	0.26248	.	.	ENSG00000135439	ENST00000547588	T	0.39229	1.09	4.83	2.85	0.33270	.	1.274000	0.05812	N	0.614090	T	0.20740	0.0499	N	0.08118	0	0.29772	N	0.834685	B;B	0.32467	0.372;0.255	B;B	0.24848	0.056;0.025	T	0.23511	-1.0186	9	.	.	.	.	5.6569	0.17647	0.1013:0.0:0.7065:0.1922	.	309;309	F8VVT9;Q99490	.;AGAP2_HUMAN	F	309	ENSP00000449241:S309F	.	S	-	2	0	AGAP2	56417371	1.000000	0.71417	0.995000	0.50966	0.017000	0.09413	2.785000	0.47782	1.163000	0.42636	-0.300000	0.09419	TCC	-	NULL		0.687	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	protein_coding	OTTHUMT00000408367.1	G	NM_014770	-		58131104	-1	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	SNP	0.951	A	A	58131104	G	A	58131104	3	1	8	1	0	0	0	0	1	0	0	0	368	1174	41	2	2728	2	AGAP2	12	58131104	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	9750442	58131104	75720791	29	395			1	5		2	2	22	G		4.409282e-05
AGAP2	116986	genome.wustl.edu	37	chr12	58131125	58131125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcggtgacagcagtgGctggactcggagttggtggg	19	7	0	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:58131125G>A	ENST00000547588.1	-	1	904	c.905C>T	c.(904-906)gCc>gTc	p.A302V	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	302	Interaction with PLCG1. {ECO:0000250}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GACAGCAGTGGCTGGACTCGG	0.672																																																	0								ENSG00000135439						44	61	56					12																	58131125		1568	3582	5150	AGAP2	SO:0001583	missense	0			-	HGNC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.905C>T	12.37:g.58131125G>A	ENSP00000449241:p.Ala302Val	Somatic	0	126	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	168	1492	10.10	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A302V	ENST00000547588.1	37	c.905	CCDS44932.1	12	.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093828	0.07053	.	.	ENSG00000135439	ENST00000547588	T	0.35973	1.28	4.83	0.59	0.17458	.	1.533620	0.03866	N	0.274804	T	0.23965	0.0580	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.08055	0.003;0.001	T	0.36335	-0.9752	10	0.66056	D	0.02	.	11.6268	0.51151	0.0:0.3579:0.5218:0.1203	.	302;302	F8VVT9;Q99490	.;AGAP2_HUMAN	V	302	ENSP00000449241:A302V	ENSP00000449241:A302V	A	-	2	0	AGAP2	56417392	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.022000	0.12480	-0.039000	0.13602	-1.358000	0.01219	GCC	-	NULL		0.672	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	protein_coding	OTTHUMT00000408367.1	G	NM_014770	-		58131125	-1	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	SNP	0.002	A	A	58131125	G	A	58131125	3	1	8	1	0	0	0	0	1	0	0	0	368	1203	42	2	2749	2	AGAP2	12	58131125	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	21	58131125	75720770	30	396			1	5		2	2	22	G		4.409282e-05
EEA1	8411	genome.wustl.edu	37	chr12	93171868	93171868	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcacagtgcctaagttttCatttaatgctgtaatctgca	6	9	3	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:93171868C>T	ENST00000322349.8	-	26	4006	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1248					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCTAAGTTTTCATTTAATGCT	0.383																																																	0								ENSG00000102189						219	201	207					12																	93171868		2203	4300	6503	EEA1	SO:0001583	missense	0			-	HGNC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3742G>A	12.37:g.93171868C>T	ENSP00000317955:p.Glu1248Lys	Somatic	0	46	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	Q14221	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E1248K	ENST00000322349.8	37	c.3742	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.068572	0.93950	.	.	ENSG00000102189	ENST00000322349	T	0.69306	-0.39	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000040	T	0.72969	0.3527	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.66196	0.942	T	0.65278	-0.6207	10	0.12766	T	0.61	.	19.6334	0.95719	0.0:1.0:0.0:0.0	.	1248	Q15075	EEA1_HUMAN	K	1248	ENSP00000317955:E1248K	ENSP00000317955:E1248K	E	-	1	0	EEA1	91695999	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	7.594000	0.82698	2.629000	0.89072	0.585000	0.79938	GAA	-	NULL		0.383	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	C	NM_003566	-		93171868	-1	no_errors	ENST00000322349	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93171868	C	T	93171868	3	4	8	1	0	0	0	0	1	0	0	0	4923	835	29	2	509	2	EEA1	12	93171868	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	35040743	93171868	40680027	31	397											
SLC17A8	246213	genome.wustl.edu	37	chr12	100811922	100811922	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccctcattgtcggtgcaatGaccaggcacaaggtaaaggt	11	11	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:100811922G>C	ENST00000323346.5	+	11	1726	c.1413G>C	c.(1411-1413)atG>atC	p.M471I	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.M421I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	471					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCGGTGCAATGACCAGGCACA	0.507																																																	0								ENSG00000179520						160	147	151					12																	100811922		2203	4300	6503	SLC17A8	SO:0001583	missense	0			-	HGNC	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1413G>C	12.37:g.100811922G>C	ENSP00000316909:p.Met471Ile	Somatic	0	34	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M471I	ENST00000323346.5	37	c.1413	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736394	0.30774	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.38401	1.14;1.14	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043945	0.85682	D	0.000000	T	0.19604	0.0471	N	0.05031	-0.125	0.53005	D	0.99996	B;B	0.11235	0.004;0.004	B;B	0.12837	0.005;0.008	T	0.13710	-1.0499	10	0.02654	T	1	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	471;421	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	471;421	ENSP00000316909:M471I;ENSP00000376715:M421I	ENSP00000316909:M471I	M	+	3	0	SLC17A8	99336053	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.434000	0.73408	2.769000	0.95229	0.650000	0.86243	ATG	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.507	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	protein_coding	OTTHUMT00000408673.2	G	NM_139319	-		100811922	1	no_errors	ENST00000323346	ensembl	human	known	74_37	missense	SNP	1.000	C	C	100811922	G	C	100811922	3	2	8	1	0	0	0	0	1	0	0	0	14431	1290	45	4	1455	4	SLC17A8	12	100811922	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	7640054	100811922	33039973	32	398											
UBE3B	89910	genome.wustl.edu	37	chr12	109949045	109949045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcttccaagaactcgaCagggacagaaaacgggcaca	11	11	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:109949045C>T	ENST00000342494.3	+	18	2488	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	UBE3B_ENST00000434735.2_Silent_p.D631D|UBE3B_ENST00000280774.5_Silent_p.D631D|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	631					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AAGAACTCGACAGGGACAGAA	0.488																																																	0								ENSG00000151148						169	133	145					12																	109949045		2203	4300	6503	UBE3B	SO:0001819	synonymous_variant	0			-	HGNC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1893C>T	12.37:g.109949045C>T		Somatic	0	39	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP							pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.D631	ENST00000342494.3	37	c.1893	CCDS9129.1	12																																																																																			-	NULL		0.488	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	protein_coding	OTTHUMT00000403119.1	C	NM_183415	-		109949045	1	no_errors	ENST00000342494	ensembl	human	known	74_37	silent	SNP	1.000	T	T	109949045	C	T	109949045	2	4	8	1	0	0	0	0	0	0	0	1	16887	477	17	2		2	UBE3B	12	109949045	Silent	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	9137123	109949045	23902850	33	399											
ZNF605	100289635	genome.wustl.edu	37	chr12	133502016	133502016	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacttcctgttgaaggtggtCccacactcattgcatccata	8	12	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr12:133502016C>A	ENST00000360187.4	-	5	2217	c.1869G>T	c.(1867-1869)ggG>ggT	p.G623G	ZNF605_ENST00000392321.3_Silent_p.G654G|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	623					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)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TGAAGGTGGTCCCACACTCAT	0.388																																																	0								ENSG00000196458						120	115	116					12																	133502016		2203	4300	6503	ZNF605	SO:0001819	synonymous_variant	0			-	HGNC	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1869G>T	12.37:g.133502016C>A		Somatic	0	47	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	B3KVG4|D3DXJ0|Q86T91	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G623	ENST00000360187.4	37	c.1869	CCDS31938.1	12																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF605	protein_coding	OTTHUMT00000397135.2	C	NM_183238	-		133502016	-1	no_errors	ENST00000360187	ensembl	human	known	74_37	silent	SNP	0.445	A	A	133502016	C	A	133502016	2	1	8	1	0	0	0	0	0	0	0	1	18038	842	30	3		3	ZNF605	12	133502016	Silent	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	23552971	133502016	349879	34	400											
DOCK9	23348	genome.wustl.edu	37	chr13	99498220	99498220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaggctgcccagctgctGcaatctggcatgcatcattc	9	14	2	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr13:99498220G>A	ENST00000376460.1	-	38	4167	c.4087C>T	c.(4087-4089)Cag>Tag	p.Q1363*	DOCK9_ENST00000448493.2_Missense_Mutation_p.A1387V|DOCK9_ENST00000339416.2_Nonsense_Mutation_p.Q1364*	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1364					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)			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)					CCCAGCTGCTGCAATCTGGCA	0.507																																																	0								ENSG00000088387						130	133	132					13																	99498220		2093	4225	6318	DOCK9	SO:0001587	stop_gained	0			-	HGNC	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.4087C>T	13.37:g.99498220G>A	ENSP00000365643:p.Gln1363*	Somatic	0	35	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Nonsense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q1364*	ENST00000376460.1	37	c.4090	CCDS45062.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.649815|9.649815	0.99229|0.99229	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000448493|ENST00000376460;ENST00000357329;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449	T|.	0.20332|.	2.08|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.054840	.|0.85682	.|D	.|0.000000	T|.	0.78136|.	0.4236|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78383|.	-0.2225|.	6|.	0.17832|0.54805	T|T	0.49|0.06	.|.	19.76|19.76	0.96311|0.96311	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	1387|1363;1364;1364;1363;294;1364;6;7	ENSP00000401958:A1387V|.	ENSP00000401958:A1387V|ENSP00000341086:Q1364X	A|Q	-|-	2|1	0|0	DOCK9|DOCK9	98296221|98296221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.430000|9.430000	0.97488|0.97488	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	GCA|CAG	-	superfamily_ARM-type_fold		0.507	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	protein_coding	OTTHUMT00000045566.1	G	NM_015296	-		99498220	-1	no_errors	ENST00000339416	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	99498220	G	A	99498220	4	1	8	1	0	0	0	0	0	1	0	0	4696	1328	46	2	2191	2	DOCK9	13	99498220	Nonsense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		99498220	15671658	35	401											
OR4K5	79317	genome.wustl.edu	37	chr14	20388807	20388807	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgtctgaatttgtactGttgggactctgtagttctca	12	6	3	1	rs375886777		TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr14:20388807G>T	ENST00000315915.4	+	1	67	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATTTGTACTGTTGGGACTCT	0.373																																																	0								ENSG00000176281	G		1,4405		0,1,2202	149	156	154		42	-1.2	0	14		154	0,8600		0,0,4300	no	coding-synonymous	OR4K5	NM_001005483.1		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		14/324	20388807	1,13005	2203	4300	6503	OR4K5	SO:0001819	synonymous_variant	0			-	HGNC	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.42G>T	14.37:g.20388807G>T		Somatic	0	40	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q6IFA7	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14	ENST00000315915.4	37	c.42	CCDS32024.1	14																																																																																			-	NULL		0.373	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K5	protein_coding	OTTHUMT00000409867.1	G	NM_001005483	-		20388807	1	no_errors	ENST00000315915	ensembl	human	known	74_37	silent	SNP	0.000	T	T	20388807	G	T	20388807	2	4	8	1	0	0	0	0	0	0	0	1	11075	1364	48	3		3	OR4K5	14	20388807	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		20388807	86960733	36	402											
VIPAR	63894	genome.wustl.edu	37	chr14	77919693	77919693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccaggtcatcatcgtcatCatcatccacgaagtctcgga	7	14	6	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr14:77919693C>T	ENST00000553888.1	-	3	655	c.145G>A	c.(145-147)Gat>Aat	p.D49N	VIPAS39_ENST00000343765.2_Missense_Mutation_p.D49N|VIPAS39_ENST00000448935.2_Missense_Mutation_p.D49N|VIPAS39_ENST00000556412.1_Missense_Mutation_p.D75N|VIPAS39_ENST00000327028.4_Missense_Mutation_p.D49N|VIPAS39_ENST00000557658.1_Missense_Mutation_p.D49N	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	49					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											TCATCGTCATCATCATCCACG	0.522																																																	0								ENSG00000151445						289	282	284					14																	77919693		2203	4300	6503	VIPAS39	SO:0001583	missense	0			-	HGNC	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.145G>A	14.37:g.77919693C>T	ENSP00000452181:p.Asp49Asn	Somatic	0	53	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP							pfam_Golgin_subfamily_A_member_5	p.D49N	ENST00000553888.1	37	c.145	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499314	0.85069	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.98	5.98	0.97165	.	0.134608	0.64402	D	0.000003	T	0.36331	0.0963	L	0.29908	0.895	0.80722	D	1	B;B	0.15930	0.006;0.015	B;B	0.16289	0.007;0.015	T	0.06110	-1.0845	10	0.27785	T	0.31	-5.3406	20.4292	0.99080	0.0:1.0:0.0:0.0	.	49;49	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	N	49;49;49;49;49;75	ENSP00000339122:D49N;ENSP00000452181:D49N;ENSP00000313098:D49N;ENSP00000452191:D49N;ENSP00000404815:D49N;ENSP00000451857:D75N	ENSP00000313098:D49N	D	-	1	0	VIPAR	76989446	1.000000	0.71417	0.937000	0.37676	0.770000	0.43624	7.329000	0.79170	2.839000	0.97877	0.650000	0.86243	GAT	-	pfam_Golgin_subfamily_A_member_5		0.522	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	protein_coding	OTTHUMT00000414008.1	C	NM_022067	-		77919693	-1	no_errors	ENST00000343765	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77919693	C	T	77919693	3	4	8	1	0	0	0	0	1	0	0	0	17175	826	29	2	1408	2	VIPAR	14	77919693	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	57530886	77919693	29429847	37	403											
VIPAR	63894	genome.wustl.edu	37	chr14	77920424	77920424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgttccaatactcctcctCatcaccctttgtccgattca	4	16	3	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr14:77920424C>T	ENST00000553888.1	-	2	532	c.22G>A	c.(22-24)Gag>Aag	p.E8K	VIPAS39_ENST00000343765.2_Missense_Mutation_p.E8K|VIPAS39_ENST00000448935.2_Missense_Mutation_p.E8K|VIPAS39_ENST00000556412.1_Missense_Mutation_p.E34K|VIPAS39_ENST00000327028.4_Missense_Mutation_p.E8K|VIPAS39_ENST00000557658.1_Missense_Mutation_p.E8K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	8					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											TACTCCTCCTCATCACCCTTT	0.448																																																	0								ENSG00000151445						159	126	138					14																	77920424		2203	4300	6503	VIPAS39	SO:0001583	missense	0			-	HGNC	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.22G>A	14.37:g.77920424C>T	ENSP00000452181:p.Glu8Lys	Somatic	0	57	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	59	15.71	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP							pfam_Golgin_subfamily_A_member_5	p.E8K	ENST00000553888.1	37	c.22	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656591	0.88154	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412;ENST00000557466	T;T;T;T;T;T;D	0.83075	-1.33;-1.33;-1.39;-1.33;-1.49;-1.38;-1.68	5.21	5.21	0.72293	.	0.107652	0.64402	D	0.000005	T	0.80226	0.4584	L	0.44542	1.39	0.54753	D	0.999987	P;P	0.49090	0.799;0.919	B;B	0.42692	0.272;0.395	T	0.83304	-0.0026	10	0.72032	D	0.01	-25.7044	17.0945	0.86631	0.0:1.0:0.0:0.0	.	8;8	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	K	8;8;8;8;8;34;8	ENSP00000339122:E8K;ENSP00000452181:E8K;ENSP00000313098:E8K;ENSP00000452191:E8K;ENSP00000404815:E8K;ENSP00000451857:E34K;ENSP00000452176:E8K	ENSP00000313098:E8K	E	-	1	0	VIPAR	76990177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.615000	0.74201	2.706000	0.92434	0.655000	0.94253	GAG	-	NULL		0.448	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	protein_coding	OTTHUMT00000414008.1	C	NM_022067	-		77920424	-1	no_errors	ENST00000343765	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77920424	C	T	77920424	3	4	8	1	0	0	0	0	1	0	0	0	17175	835	29	2	1535	2	VIPAR	14	77920424	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	731	77920424	29429116	38	404											
ITPK1	3705	genome.wustl.edu	37	chr14	93408170	93408170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtcccctgtggctgcCatggctgtgctctggccctg	13	16	1	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr14:93408170C>T	ENST00000267615.6	-	11	1154	c.981G>A	c.(979-981)atG>atA	p.M327I	ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Missense_Mutation_p.M327I|ITPK1_ENST00000555495.1_Missense_Mutation_p.M208I			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	327					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTGTGGCTGCCATGGCTGTGC	0.687																																																	0								ENSG00000100605						19	17	18					14																	93408170		2091	4106	6197	ITPK1	SO:0001583	missense	0			-	HGNC	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.981G>A	14.37:g.93408170C>T	ENSP00000267615:p.Met327Ile	Somatic	0	22	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	19	80.39	Q9BTL6|Q9H2E7	Missense_Mutation	SNP							pfam_Inositol_tetrakis-P_1-kinase	p.M327I	ENST00000267615.6	37	c.981	CCDS9907.1	14	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.841767	0.00573	.	.	ENSG00000100605	ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	.	.	.	3.27	-6.54	0.01860	.	1.091490	0.06803	N	0.789042	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17228	-1.0376	9	0.38643	T	0.18	4.6798	3.8705	0.09035	0.0956:0.1138:0.2858:0.5048	.	327	Q13572	ITPK1_HUMAN	I	357;327;208;327;327	.	ENSP00000267615:M327I	M	-	3	0	ITPK1	92477923	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-2.794000	0.00765	-3.458000	0.00159	-0.448000	0.05591	ATG	-	NULL		0.687	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	protein_coding	OTTHUMT00000412421.2	C	NM_014216	-		93408170	-1	no_errors	ENST00000267615	ensembl	human	known	74_37	missense	SNP	0.000	T	T	93408170	C	T	93408170	3	4	8	1	0	0	0	0	1	0	0	0	7918	594	21	2	315	2	ITPK1	14	93408170	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	15487746	93408170	13941370	39	405											
CCPG1	9236	genome.wustl.edu	37	chr15	55677813	55677813	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctccttgctctatctGcaatgcttgaagctcctctt	5	14	3	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr15:55677813G>A	ENST00000310958.6	-	3	458	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.Q54*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.Q54*|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.Q54*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	54	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGCTCTATCTGCAATGCTTGA	0.418																																																	0								ENSG00000260916						49	49	49					15																	55677813		1830	4076	5906	CCPG1	SO:0001587	stop_gained	0			-	HGNC	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.160C>T	15.37:g.55677813G>A	ENSP00000311656:p.Gln54*	Somatic	0	67	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP							NULL	p.Q54*	ENST00000310958.6	37	c.160	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986244	0.53934	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	4.51	3.57	0.40892	.	1.158660	0.06064	N	0.658925	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	9.0895	0.36601	0.1031:0.0:0.8969:0.0	.	.	.	.	X	54	.	ENSP00000311656:Q54X	Q	-	1	0	DYX1C1	53465105	0.016000	0.18221	0.004000	0.12327	0.160000	0.22226	1.670000	0.37502	1.226000	0.43582	0.650000	0.86243	CAG	-	NULL		0.418	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	protein_coding	OTTHUMT00000419850.1	G	NM_004748	-		55677813	-1	no_errors	ENST00000310958	ensembl	human	known	74_37	nonsense	SNP	0.004	A	A	55677813	G	A	55677813	4	1	8	1	0	0	0	0	0	1	0	0	2940	1328	46	2	2137	2	CCPG1	15	55677813	Nonsense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		55677813	46853579	40	406											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1817853	1817853	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacgcatcacggccctgcttGtcgcgggcagccggctctgg	14	15	2	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr16:1817853G>C	ENST00000250894.4	+	28	3611	c.3454G>C	c.(3454-3456)Gtc>Ctc	p.V1152L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V1146L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1152					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGCCCTGCTTGTCGCGGGCAG	0.667																																																	0								ENSG00000138834						62	73	70					16																	1817853		2102	4219	6321	MAPK8IP3	SO:0001583	missense	0			-	HGNC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3454G>C	16.37:g.1817853G>C	ENSP00000250894:p.Val1152Leu	Somatic	0	69	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	68	19.05	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP							pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.V1152L	ENST00000250894.4	37	c.3454	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797212	0.16327	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.35236	1.32;1.32	3.32	2.22	0.28083	WD40 repeat-like-containing domain (1);	0.065638	0.64402	D	0.000012	T	0.27765	0.0683	L	0.45285	1.41	0.38553	D	0.949511	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.13407	0.004;0.009;0.001	T	0.10337	-1.0634	10	0.56958	D	0.05	-10.2558	7.4172	0.27050	0.887:0.0:0.113:0.0	.	1153;1146;1152	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	1152;1146	ENSP00000250894:V1152L;ENSP00000348290:V1146L	ENSP00000250894:V1152L	V	+	1	0	MAPK8IP3	1757854	1.000000	0.71417	0.123000	0.21794	0.075000	0.17131	4.702000	0.61817	0.390000	0.25115	-0.379000	0.06801	GTC	-	superfamily_WD40_repeat_dom		0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	protein_coding	OTTHUMT00000250508.2	G	NM_001040439	-		1817853	1	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	SNP	0.951	C	C	1817853	G	C	1817853	3	2	8	1	0	0	0	0	1	0	0	0	9288	1377	48	4	3580	4	MAPK8IP3	16	1817853	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		1817853	88536900	41	407											
RRN3	54700	genome.wustl.edu	37	chr16	15188050	15188050	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggacgaagcggccGcatctcccggcaaacgcgtg	14	14	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr16:15188050G>C	ENST00000198767.6	-	1	124	c.41C>G	c.(40-42)gCg>gGg	p.A14G	RRN3_ENST00000563559.1_Missense_Mutation_p.A14G|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.A14G|RRN3_ENST00000327307.7_5'Flank|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000564131.1_Missense_Mutation_p.A14G	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	14					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CGAAGCGGCCGCATCTCCCGG	0.637																																																	0								ENSG00000085721						18	16	17					16																	15188050		2197	4296	6493	RRN3	SO:0001583	missense	0			-	HGNC	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.41C>G	16.37:g.15188050G>C	ENSP00000198767:p.Ala14Gly	Somatic	0	67	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	58	35.56	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP							pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.A14G	ENST00000198767.6	37	c.41	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	.	11.12	1.546510	0.27652	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	T;T	0.53423	0.81;0.62	3.13	-2.24	0.06909	.	.	.	.	.	T	0.21468	0.0517	N	0.08118	0	0.18873	N	0.999987	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.14643	-1.0465	9	0.36615	T	0.2	.	3.7071	0.08405	0.3114:0.4106:0.278:0.0	.	14;14;14	F5H148;Q3MHU9;Q9NYV6	.;.;RRN3_HUMAN	G	14	ENSP00000198767:A14G;ENSP00000402027:A14G	ENSP00000198767:A14G	A	-	2	0	RRN3	15095551	0.000000	0.05858	0.049000	0.19019	0.037000	0.13140	-0.353000	0.07691	-0.169000	0.10834	0.305000	0.20034	GCG	-	NULL		0.637	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	protein_coding	OTTHUMT00000252087.2	G	NM_018427	-		15188050	-1	no_errors	ENST00000198767	ensembl	human	known	74_37	missense	SNP	0.021	C	C	15188050	G	C	15188050	3	2	8	1	0	0	0	0	1	0	0	0	13692	1087	38	4	1986	4	RRN3	16	15188050	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	13370197	15188050	75166703	42	408											
ITGAD	3681	genome.wustl.edu	37	chr16	31429830	31429830	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataaggcttcaagcagcaagGccaccttccagctggagctc	10	13	1	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr16:31429830G>C	ENST00000389202.2	+	23	2774	c.2725G>C	c.(2725-2727)Gcc>Ccc	p.A909P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	909					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGCAGCAAGGCCACCTTCCA	0.577																																																	0								ENSG00000156886						129	118	121					16																	31429830		2197	4300	6497	ITGAD	SO:0001583	missense	0			-	HGNC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2725G>C	16.37:g.31429830G>C	ENSP00000373854:p.Ala909Pro	Somatic	0	27	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	Q15575|Q15576	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A909P	ENST00000389202.2	37	c.2725	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283371	0.40394	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.46451	0.87	5.05	3.96	0.45880	Integrin alpha-2 (1);	.	.	.	.	T	0.38268	0.1034	L	0.27053	0.805	0.09310	N	1	P;P	0.45212	0.853;0.758	P;P	0.50162	0.633;0.633	T	0.15694	-1.0428	9	0.62326	D	0.03	.	6.9748	0.24669	0.8917:0.0:0.1083:0.0	.	925;909	Q59H14;Q13349	.;ITAD_HUMAN	P	925;909	ENSP00000373854:A909P	ENSP00000373854:A909P	A	+	1	0	ITGAD	31337331	0.136000	0.22515	0.137000	0.22149	0.430000	0.31655	0.955000	0.29188	0.774000	0.33427	-0.312000	0.09012	GCC	-	pfam_Integrin_alpha-2		0.577	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	G	NM_005353	-		31429830	1	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	SNP	0.194	C	C	31429830	G	C	31429830	3	2	8	1	0	0	0	0	1	0	0	0	7886	1203	42	4	2815	4	ITGAD	16	31429830	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	16241780	31429830	58924923	43	409											
FUK	197258	genome.wustl.edu	37	chr16	70503093	70503093	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attctccactgcatggctgaGaacgtgaccagggaggactt	12	10	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr16:70503093G>A	ENST00000288078.6	+	10	1054	c.822G>A	c.(820-822)gaG>gaA	p.E274E	FUK_ENST00000378912.2_Silent_p.E306E|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	274						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCATGGCTGAGAACGTGACCA	0.592																																																	0								ENSG00000157353						127	129	128					16																	70503093		2000	4162	6162	FUK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.822G>A	16.37:g.70503093G>A		Somatic	0	18	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP							pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.E306	ENST00000288078.6	37	c.918	CCDS10891.2	16																																																																																			-	pfam_Fucokinase		0.592	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	protein_coding	OTTHUMT00000157291.2	G	NM_145059	-		70503093	1	no_errors	ENST00000378912	ensembl	human	known	74_37	silent	SNP	0.796	A	A	70503093	G	A	70503093	2	1	8	1	0	0	0	0	0	0	0	1	6098	933	33	2		2	FUK	16	70503093	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	39073263	70503093	19851660	44	410											
CCL16	6360	genome.wustl.edu	37	chr17	34308401	34308401	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggctggctgcgagaagccGaagtaatgataaggatgagg	16	5	0	3	rs199602184		TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr17:34308401G>T	ENST00000293275.3	-	1	131	c.56C>A	c.(55-57)tCg>tAg	p.S19*		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	19					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)		GCGAGAAGCCGAAGTAATGAT	0.572																																																	0								ENSG00000161573						66	51	56					17																	34308401		2203	4300	6503	CCL16	SO:0001587	stop_gained	0			-	HGNC	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.56C>A	17.37:g.34308401G>T	ENSP00000293275:p.Ser19*	Somatic	0	19	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	Q4KKU0	Nonsense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.S19*	ENST00000293275.3	37	c.56	CCDS11303.1	17	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667040	0.67814	.	.	ENSG00000161573	ENST00000293275	.	.	.	3.76	1.64	0.23874	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3932	0.11350	0.13:0.238:0.6319:0.0	.	.	.	.	X	19	.	ENSP00000293275:S19X	S	-	2	0	CCL16	31332514	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.391000	0.20784	0.864000	0.35578	0.462000	0.41574	TCG	-	NULL		0.572	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL16	protein_coding	OTTHUMT00000256579.1	G	NM_004590	-		34308401	-1	no_errors	ENST00000293275	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	34308401	G	T	34308401	4	4	8	1	0	0	0	0	0	1	0	0	2889	1059	37	3	318	3	CCL16	17	34308401	Nonsense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		34308401	46886809	45	411											
ZNF521	25925	genome.wustl.edu	37	chr18	22805711	22805711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttcctggcagagggtgCagcgaaagaagacaaaggtg	14	7	0	3			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr18:22805711C>T	ENST00000361524.3	-	4	2319	c.2171G>A	c.(2170-2172)tGc>tAc	p.C724Y	ZNF521_ENST00000538137.2_Missense_Mutation_p.C724Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C504Y|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	724					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAGAGGGTGCAGCGAAAGAA	0.453			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						83	84	84					18																	22805711		2203	4300	6503	ZNF521	SO:0001583	missense	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2171G>A	18.37:g.22805711C>T	ENSP00000354794:p.Cys724Tyr	Somatic	0	25	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C724Y	ENST00000361524.3	37	c.2171	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345637	0.24426	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.58358	0.34;0.34	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82076	-0.0636	10	0.87932	D	0	-23.4339	20.8794	0.99867	0.0:1.0:0.0:0.0	.	724	Q96K83	ZN521_HUMAN	Y	724;758;724	ENSP00000354794:C724Y;ENSP00000382352:C724Y	ENSP00000354794:C724Y	C	-	2	0	ZNF521	21059709	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	C	NM_015461	-		22805711	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22805711	C	T	22805711	3	4	8	1	0	0	0	0	1	0	0	0	17972	710	25	2	1784	2	ZNF521	18	22805711	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09		22805711	55271537	46	412											
MUC16	94025	genome.wustl.edu	37	chr19	9080536	9080536	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgacatctttatggtggtCactagcgttccatcagttgc	9	10	3	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:9080536C>A	ENST00000397910.4	-	2	9698	c.9495G>T	c.(9493-9495)gtG>gtT	p.V3165V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3166	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						TTATGGTGGTCACTAGCGTTC	0.463																																																	0								ENSG00000181143						141	134	136					19																	9080536		1943	4152	6095	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.9495G>T	19.37:g.9080536C>A		Somatic	0	75	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	102	11.30	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.V3165	ENST00000397910.4	37	c.9495	CCDS54212.1	19																																																																																			-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9080536	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.001	A	A	9080536	C	A	9080536	2	1	8	1	0	0	0	0	0	0	0	1	9975	813	29	3		3	MUC16	19	9080536	Silent	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09		9080536	50048447	47	413											
DOCK6	57572	genome.wustl.edu	37	chr19	11347061	11347061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggcctgatgaccagacGcacgagcttgtccagcacgt	14	13	0	3	rs199700158		TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:11347061G>A	ENST00000294618.7	-	20	2364	c.2353C>T	c.(2353-2355)Cgt>Tgt	p.R785C	C19orf80_ENST00000591200.1_5'Flank|DOCK6_ENST00000319867.7_Missense_Mutation_p.R89C|RN7SL298P_ENST00000581369.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	785					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGACCAGACGCACGAGCTTG	0.617																																																	0								ENSG00000130158						20	25	23					19																	11347061		2054	4191	6245	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2353C>T	19.37:g.11347061G>A	ENSP00000294618:p.Arg785Cys	Somatic	0	46	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N	p.R785C	ENST00000294618.7	37	c.2353	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872318	0.33069	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.31510	1.49;1.49	5.11	5.11	0.69529	.	0.614837	0.16879	N	0.195789	T	0.28699	0.0711	L	0.38175	1.15	0.23991	N	0.996246	B;P	0.48998	0.001;0.918	B;B	0.40741	0.003;0.339	T	0.16778	-1.0391	10	0.49607	T	0.09	-0.9938	17.2907	0.87156	0.0:0.0:1.0:0.0	.	89;785	C9IZV6;Q96HP0	.;DOCK6_HUMAN	C	785;89	ENSP00000294618:R785C;ENSP00000321556:R89C	ENSP00000294618:R785C	R	-	1	0	DOCK6	11208061	0.927000	0.31430	0.065000	0.19835	0.408000	0.30992	5.149000	0.64863	2.378000	0.81104	0.561000	0.74099	CGT	-	NULL		0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	G	NM_020812	rs199700158		11347061	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	0.241	A	A	11347061	G	A	11347061	3	1	8	1	0	0	0	0	1	0	0	0	4693	1087	38	1	3906	1	DOCK6	19	11347061	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	2266525	11347061	47781922	48	414											
WDR83	84292	genome.wustl.edu	37	chr19	12784098	12784098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtggtcagctgttctgagGacgggaaggtgttcttctgg	16	6	4	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:12784098G>A	ENST00000418543.3	+	10	1115	c.766G>A	c.(766-768)Gac>Aac	p.D256N	WDR83OS_ENST00000596731.1_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.D256N	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	256					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CTGTTCTGAGGACGGGAAGGT	0.567																																																	0								ENSG00000123154						146	133	138					19																	12784098		2203	4300	6503	WDR83	SO:0001583	missense	0			-	HGNC	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.766G>A	19.37:g.12784098G>A	ENSP00000402653:p.Asp256Asn	Somatic	0	16	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	B2RAF1|Q53FT6	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D256N	ENST00000418543.3	37	c.766	CCDS12275.1	19	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777954	0.70107	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	D;D	0.88975	-2.45;-2.45	5.43	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.044316	0.85682	D	0.000000	D	0.92008	0.7468	M	0.93328	3.405	0.80722	D	1	B	0.24426	0.103	B	0.31946	0.138	D	0.91963	0.5580	10	0.87932	D	0	.	12.5293	0.56104	0.082:0.0:0.918:0.0	.	256	Q9BRX9	WDR83_HUMAN	N	256	ENSP00000402653:D256N;ENSP00000242796:D256N	ENSP00000242796:D256N	D	+	1	0	WDR83	12645098	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	6.043000	0.71004	2.549000	0.85964	0.561000	0.74099	GAC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.567	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR83	protein_coding	OTTHUMT00000403648.1	G	NM_032332	-		12784098	1	no_errors	ENST00000242796	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12784098	G	A	12784098	3	1	8	1	0	0	0	0	1	0	0	0	17339	1174	41	2	796	2	WDR83	19	12784098	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	1437037	12784098	46344885	49	415											
NOTCH3	4854	genome.wustl.edu	37	chr19	15285085	15285085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgagcaccagcacgccGcgggccagcagggccggcac	15	16	0	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:15285085G>A	ENST00000263388.2	-	25	4605	c.4530C>T	c.(4528-4530)cgC>cgT	p.R1510R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1510					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAGCACGCCGCGGGCCAGCA	0.697																																																	0								ENSG00000074181						9	11	10					19																	15285085		2128	4159	6287	NOTCH3	SO:0001819	synonymous_variant	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4530C>T	19.37:g.15285085G>A		Somatic	0	37	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R1510	ENST00000263388.2	37	c.4530	CCDS12326.1	19																																																																																			-	pirsf_Notch,pfam_Notch_NOD_dom		0.697	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	G	NM_000435	-		15285085	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	SNP	0.171	A	A	15285085	G	A	15285085	2	1	8	1	0	0	0	0	0	0	0	1	10552	1074	38	1		1	NOTCH3	19	15285085	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	2500987	15285085	43843898	50	416											
ZNF98	148198	genome.wustl.edu	37	chr19	22575766	22575766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttggccaaaggtcttgggCaaaataagaatatacaactg	9	7	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:22575766C>A	ENST00000357774.5	-	4	392	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTCTTGGGCAAAATAAGAA	0.274																																																	0								ENSG00000197360						26	21	22					19																	22575766		1829	4109	5938	ZNF98	SO:0001583	missense	0			-	HGNC		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.271G>T	19.37:g.22575766C>A	ENSP00000350418:p.Ala91Ser	Somatic	0	43	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A91S	ENST00000357774.5	37	c.271	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	6.532	0.466385	0.12402	.	.	ENSG00000197360	ENST00000357774	T	0.06371	3.31	1.44	1.44	0.22558	.	.	.	.	.	T	0.07458	0.0188	L	0.54965	1.715	0.09310	N	1	B	0.27316	0.175	B	0.28139	0.086	T	0.32428	-0.9907	9	0.35671	T	0.21	.	7.7324	0.28793	0.0:1.0:0.0:0.0	.	91	A6NK75	ZNF98_HUMAN	S	91	ENSP00000350418:A91S	ENSP00000350418:A91S	A	-	1	0	ZNF98	22367606	0.002000	0.14202	0.210000	0.23637	0.238000	0.25445	-0.193000	0.09573	0.300000	0.22699	0.305000	0.20034	GCC	-	NULL		0.274	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	protein_coding	OTTHUMT00000464398.1	C	NM_001098626	-		22575766	-1	no_errors	ENST00000357774	ensembl	human	known	74_37	missense	SNP	0.006	A	A	22575766	C	A	22575766	3	1	8	1	0	0	0	0	1	0	0	0	18210	710	25	3	1451	3	ZNF98	19	22575766	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	7290681	22575766	36553217	51	417											
ZNF284	342909	genome.wustl.edu	37	chr19	44590253	44590254	+	Frame_Shift_Ins	INS	-	-	G													acgctataagtgtgatgtgtINSgtagtaaggcatttagtcag							TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:44590253_44590254insG	ENST00000421176.3	+	5	838_839	c.622_623insG	c.(622-624)tgtfs	p.C208fs	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	208					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)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GTGTGATGTGTGTAGTAAGGCA	0.411																																																	0								ENSG00000186026																																			ZNF284	SO:0001589	frameshift_variant	0				HGNC	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.623dupG	19.37:g.44590254_44590254dupG	ENSP00000411032:p.Cys208fs	Somatic	0	29	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q86WM1	Frame_Shift_Ins	INS							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C208fs	ENST00000421176.3	37	c.622_623	CCDS46099.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.411	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	protein_coding	OTTHUMT00000460473.1	-	NM_001037813			44590254	1	no_errors	ENST00000421176	ensembl	human	known	74_37	frame_shift_ins	INS	0.992:1.000	G	G	44590254	-	G	44590253	7	5	8	1	0	1	1	0	0	0	0	0	17828	1696	59	0	636	0	ZNF284	19	44590253	Frame_Shift_Ins	INS	-	TCGA-3B-A9HS-01A-11D-A38Z-09	22014487	44590253	14538730	52	418											
LILRB5	10990	genome.wustl.edu	37	chr19	54759174	54759174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggatgtccagggggtcGctgggggccgaccacctagg	17	11	1	0	rs535392919		TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr19:54759174G>A	ENST00000316219.5	-	5	1034	c.927C>T	c.(925-927)agC>agT	p.S309S	LILRB5_ENST00000449561.2_Silent_p.S309S|LILRB5_ENST00000345866.6_Silent_p.S209S|LILRB5_ENST00000450632.1_Silent_p.S300S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	309	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGGGTCGCTGGGGGCCG	0.667													.|||	1	0.000199681	0	0	5008	,	,		14414	0		0	False		,,,				2504	0.001																0								ENSG00000105609						28	30	30					19																	54759174		2202	4298	6500	LILRB5	SO:0001819	synonymous_variant	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.927C>T	19.37:g.54759174G>A		Somatic	1	125	0.79		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	130	16.13	Q8N760	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S300	ENST00000316219.5	37	c.900	CCDS12885.1	19																																																																																			-	smart_Ig_sub		0.667	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	G		-		54759174	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	silent	SNP	0.822	A	A	54759174	G	A	54759174	2	1	8	1	0	0	0	0	0	0	0	1	8796	1078	38	1		1	LILRB5	19	54759174	Silent	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	10168921	54759174	4369809	53	419											
KIF16B	55614	genome.wustl.edu	37	chr20	16385512	16385512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggacttcgagaggtcgGtcatggacaagctgaaggag	16	8	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr20:16385512G>A	ENST00000354981.2	-	17	1887	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	KIF16B_ENST00000408042.1_Missense_Mutation_p.T577I|KIF16B_ENST00000355755.3_Missense_Mutation_p.T577I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	577					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGAGAGGTCGGTCATGGACAA	0.527																																																	0								ENSG00000089177						101	86	91					20																	16385512		2203	4300	6503	KIF16B	SO:0001583	missense	0			-	HGNC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1730C>T	20.37:g.16385512G>A	ENSP00000347076:p.Thr577Ile	Somatic	0	32	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.T577I	ENST00000354981.2	37	c.1730	CCDS13122.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.341415|4.341415	0.81911|0.81911	.|.	.|.	ENSG00000089177|ENSG00000089177	ENST00000450176|ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.|T;T;T	.|0.70986	.|-0.53;-0.53;-0.53	5.76|5.76	4.81|4.81	0.61882|0.61882	.|.	.|0.049468	.|0.85682	.|D	.|0.000000	T|T	0.73521|0.73521	0.3597|0.3597	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.67145	.|0.987;0.996;0.95;0.916	.|P;D;P;P	.|0.63703	.|0.843;0.917;0.718;0.526	T|T	0.77582|0.77582	-0.2534|-0.2534	5|10	.|0.66056	.|D	.|0.02	.|.	15.7521|15.7521	0.77994|0.77994	0.0:0.1371:0.8629:0.0|0.0:0.1371:0.8629:0.0	.|.	.|577;577;577;577	.|Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.|.;.;.;KI16B_HUMAN	S|I	1|577	.|ENSP00000347076:T577I;ENSP00000347995:T577I;ENSP00000384164:T577I	.|ENSP00000347076:T577I	P|T	-|-	1|2	0|0	KIF16B|KIF16B	16333512|16333512	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.993000|0.993000	0.82548|0.82548	6.867000|6.867000	0.75511|0.75511	1.423000|1.423000	0.47198|0.47198	0.555000|0.555000	0.69702|0.69702	CCG|ACC	-	NULL		0.527	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	protein_coding	OTTHUMT00000078104.2	G	NM_017683	-		16385512	-1	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	SNP	0.998	A	A	16385512	G	A	16385512	3	1	8	1	0	0	0	0	1	0	0	0	8280	1261	44	2	2263	2	KIF16B	20	16385512	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		16385512	46640008	54	420											
CECR2	27443	genome.wustl.edu	37	chr22	17978464	17978464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatgcagacagtctccGtgtggagccattgggtgaag	15	9	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr22:17978464G>A	ENST00000400573.5	+	4	369	c.362G>A	c.(361-363)cGt>cAt	p.R121H	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.R101H|CECR2_ENST00000262608.8_Missense_Mutation_p.R102H|CECR2_ENST00000400585.2_5'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	143					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)		GACAGTCTCCGTGTGGAGCCA	0.488																																																	0								ENSG00000099954						93	90	91					22																	17978464		1880	4107	5987	CECR2	SO:0001583	missense	0			-	HGNC	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	ENST00000400573.5:c.362G>A	22.37:g.17978464G>A	ENSP00000383417:p.Arg121His	Somatic	0	31	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	14	61.11	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R121H	ENST00000400573.5	37	c.362		22	.	.	.	.	.	.	.	.	.	.	G	36	5.696980	0.96802	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.48836	0.8;0.8;0.8	6.01	6.01	0.97437	.	0.000000	0.31809	U	0.007022	T	0.74703	0.3751	M	0.85373	2.75	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	T	0.76900	-0.2788	10	0.87932	D	0	-11.2533	20.5141	0.99211	0.0:0.0:1.0:0.0	.	143	Q9BXF3	CECR2_HUMAN	H	101;121;102	ENSP00000341219:R101H;ENSP00000383417:R121H;ENSP00000262608:R102H	ENSP00000262608:R102H	R	+	2	0	CECR2	16358464	1.000000	0.71417	0.982000	0.44146	0.959000	0.62525	9.381000	0.97205	2.850000	0.98022	0.655000	0.94253	CGT	-	NULL		0.488	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	protein_coding	OTTHUMT00000316104.5	G	NM_031413	-		17978464	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	17978464	G	A	17978464	3	1	8	1	0	0	0	0	1	0	0	0	3208	1145	40	1	314	1	CECR2	22	17978464	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09		17978464	33326102	55	421											
CELSR1	9620	genome.wustl.edu	37	chr22	46835181	46835181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcacctcacagtagggCctctcatactcgccaggagg	12	13	3	0			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chr22:46835181C>A	ENST00000262738.3	-	3	4310	c.4311G>T	c.(4309-4311)agG>agT	p.R1437S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1437	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)		CACAGTAGGGCCTCTCATACT	0.642																																																	0								ENSG00000075275						99	78	86					22																	46835181		2203	4300	6503	CELSR1	SO:0001583	missense	0			-	HGNC	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.4311G>T	22.37:g.46835181C>A	ENSP00000262738:p.Arg1437Ser	Somatic	0	81	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	58	36.56	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1437S	ENST00000262738.3	37	c.4311	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501495	0.12822	.	.	ENSG00000075275	ENST00000262738	T	0.78481	-1.18	5.1	0.554	0.17241	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.170591	0.36303	U	0.002674	T	0.52451	0.1735	N	0.17345	0.48	0.80722	D	1	B	0.33345	0.409	B	0.32393	0.145	T	0.29427	-1.0012	10	0.11485	T	0.65	.	4.6649	0.12660	0.112:0.5812:0.1096:0.1972	.	1437	Q9NYQ6	CELR1_HUMAN	S	1437	ENSP00000262738:R1437S	ENSP00000262738:R1437S	R	-	3	2	CELSR1	45213845	0.959000	0.32827	0.910000	0.35882	0.078000	0.17371	0.359000	0.20233	-0.048000	0.13401	-1.134000	0.01955	AGG	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	C	NM_014246	-		46835181	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	0.997	A	A	46835181	C	A	46835181	3	1	8	1	0	0	0	0	1	0	0	0	3223	738	26	3	4865	3	CELSR1	22	46835181	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	28856717	46835181	4469385	56	422											
PNPLA4	8228	genome.wustl.edu	37	chrX	7894060	7894060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaaggctttgacatccTtcacaagttttttgccatgt	8	10	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:7894060T>G	ENST00000381042.4	-	2	271	c.101A>C	c.(100-102)aAg>aCg	p.K34T	PNPLA4_ENST00000444736.1_Missense_Mutation_p.K34T|PNPLA4_ENST00000537427.1_Intron	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	34	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TTTGACATCCTTCACAAGTTT	0.463											OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006757						95	80	85					X																	7894060		2203	4299	6502	PNPLA4	SO:0001583	missense	0			-	HGNC	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.101A>C	X.37:g.7894060T>G	ENSP00000370430:p.Lys34Thr	Somatic	0	21	0	645	0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP							pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.K34T	ENST00000381042.4	37	c.101	CCDS14129.1	X	.	.	.	.	.	.	.	.	.	.	T	2.060	-0.415517	0.04766	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000442940	T;T;T	0.77750	-1.12;-1.12;-1.12	3.76	1.3	0.21679	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.601636	0.17785	N	0.162105	T	0.69223	0.3087	L	0.42632	1.34	0.19945	N	0.99994	P	0.45044	0.849	P	0.46585	0.521	T	0.57791	-0.7750	10	0.17832	T	0.49	-4.7109	6.911	0.24335	0.0:0.1963:0.0:0.8037	.	34	P41247	PLPL4_HUMAN	T	34	ENSP00000370430:K34T;ENSP00000415245:K34T;ENSP00000406698:K34T	ENSP00000370430:K34T	K	-	2	0	PNPLA4	7854060	0.932000	0.31603	0.009000	0.14445	0.065000	0.16274	1.472000	0.35376	0.014000	0.14944	0.486000	0.48141	AAG	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.463	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA4	protein_coding	OTTHUMT00000055687.1	T	NM_004650	-		7894060	-1	no_errors	ENST00000381042	ensembl	human	known	74_37	missense	SNP	0.128	G	G	7894060	T	G	7894060	3	3	8	1	0	0	0	0	1	0	0	0	12169	1609	56	5	684	5	PNPLA4	23	7894060	Missense_Mutation	SNP	T	TCGA-3B-A9HS-01A-11D-A38Z-09		7894060	147376500	57	423											
PHKA2	5256	genome.wustl.edu	37	chrX	18959720	18959720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactgcaaaggccgggaagGaaataatggaaagaagtcca	12	8	0	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:18959720G>A	ENST00000379942.4	-	8	1456	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	264					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCCGGGAAGGAAATAATGGA	0.403																																																	0								ENSG00000044446						119	109	112					X																	18959720		2203	4300	6503	PHKA2	SO:0001583	missense	0			-	HGNC		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.791C>T	X.37:g.18959720G>A	ENSP00000369274:p.Ser264Phe	Somatic	0	27	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S264F	ENST00000379942.4	37	c.791	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	g	28.4	4.917218	0.92249	.	.	ENSG00000044446	ENST00000379942	D	0.93133	-3.17	5.52	5.52	0.82312	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98742	1.0717	10	0.87932	D	0	-14.0871	18.4804	0.90809	0.0:0.0:1.0:0.0	.	264	P46019	KPB2_HUMAN	F	264	ENSP00000369274:S264F	ENSP00000369274:S264F	S	-	2	0	PHKA2	18869641	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.807000	0.99171	2.306000	0.77630	0.597000	0.82753	TCC	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.403	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	protein_coding	OTTHUMT00000055960.1	G	NM_000292	-		18959720	-1	no_errors	ENST00000379942	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18959720	G	A	18959720	3	1	8	1	0	0	0	0	1	0	0	0	11846	1174	41	2	3020	2	PHKA2	23	18959720	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	11065660	18959720	136310840	58	424											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765613	27765613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagcggcagctgggttcaCgtccccgctttgtatatgag	12	12	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:27765613C>A	ENST00000451261.2	+	5	1000	c.601C>A	c.(601-603)Cgt>Agt	p.R201S		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	201										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCTGGGTTCACGTCCCCGCTT	0.587																																																	0								ENSG00000189186						46	42	43					X																	27765613		692	1591	2283	DCAF8L2	SO:0001583	missense	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.601C>A	X.37:g.27765613C>A	ENSP00000462745:p.Arg201Ser	Somatic	0	23	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	10	68.75	B2RXH9|J3KT06	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R201S	ENST00000451261.2	37	c.601	CCDS59162.1	X																																																																																			-	NULL		0.587	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	C	XM_293354	-		27765613	1	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	SNP	0.003	A	A	27765613	C	A	27765613	3	1	8	1	0	0	0	0	1	0	0	0	4280	536	19	3	603	3	DCAF8L2	23	27765613	Missense_Mutation	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	8805893	27765613	127504947	59	425											
MAGEB16	139604	genome.wustl.edu	37	chrX	35821013	35821013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtgctgaatttgacgggaGtatattctgggaagaagcac	13	5	1	3			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:35821013G>T	ENST00000399989.1	+	2	979	c.700G>T	c.(700-702)Gta>Tta	p.V234L	MAGEB16_ENST00000399988.1_Missense_Mutation_p.V234L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.V234L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.V266L|MAGEB16_ENST00000399985.1_Missense_Mutation_p.V234L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	234	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTGACGGGAGTATATTCTGG	0.498																																																	0								ENSG00000189023						65	61	62					X																	35821013		2170	4283	6453	MAGEB16	SO:0001583	missense	0			-	HGNC		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.700G>T	X.37:g.35821013G>T	ENSP00000382871:p.Val234Leu	Somatic	0	16	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	62.50	A8MU30	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V266L	ENST00000399989.1	37	c.796	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	G	1.667	-0.510049	0.04231	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85	3.13	-2.7	0.06004	.	0.928117	0.09192	N	0.835878	T	0.01421	0.0046	N	0.02973	-0.45	0.09310	N	1	B	0.20988	0.05	B	0.27076	0.076	T	0.47774	-0.9091	10	0.22109	T	0.4	.	1.0124	0.01500	0.5138:0.1757:0.1363:0.1742	.	234	A2A368	MAGBG_HUMAN	L	234;266;234;234;234	ENSP00000382870:V234L;ENSP00000382874:V266L;ENSP00000382869:V234L;ENSP00000382871:V234L;ENSP00000382867:V234L	ENSP00000382867:V234L	V	+	1	0	MAGEB16	35730934	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.470000	0.02346	-0.663000	0.05331	-2.607000	0.00160	GTA	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	protein_coding	OTTHUMT00000251034.1	G		-		35821013	1	no_errors	ENST00000399992	ensembl	human	known	74_37	missense	SNP	0.000	T	T	35821013	G	T	35821013	3	4	8	1	0	0	0	0	1	0	0	0	9176	1029	36	3	702	3	MAGEB16	23	35821013	Missense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	8055400	35821013	119449547	60	426											
ATRX	546	genome.wustl.edu	37	chrX	76931772	76931772	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catccactgtgacaggcactGatttagataaggcttcatct	8	10	2	3			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:76931772G>C	ENST00000373344.5	-	10	3972	c.3758C>G	c.(3757-3759)tCa>tGa	p.S1253*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1215*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1253	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GACAGGCACTGATTTAGATAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						126	101	110					X																	76931772		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3758C>G	X.37:g.76931772G>C	ENSP00000362441:p.Ser1253*	Somatic	0	17	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	6	66.67	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1253*	ENST00000373344.5	37	c.3758	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	43	10.119481	0.99340	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.74	3.81	0.43845	.	0.698539	0.12459	N	0.467049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-4.8902	14.6483	0.68777	0.0:0.1424:0.8576:0.0	.	.	.	.	X	1253;1215;1180	.	ENSP00000362441:S1253X	S	-	2	0	ATRX	76818428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.038000	0.57318	2.068000	0.61886	0.506000	0.49869	TCA	-	NULL		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76931772	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	C	C	76931772	G	C	76931772	4	2	8	1	0	0	0	0	0	1	0	0	1208	1294	45	4	3824	4	ATRX	23	76931772	Nonsense_Mutation	SNP	G	TCGA-3B-A9HS-01A-11D-A38Z-09	41110759	76931772	78338788	61	427											
XKRX	402415	genome.wustl.edu	37	chrX	100182986	100182986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtcccaagaggattagaTgcataaataatgatagcggt	11	6	0	3			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:100182986T>G	ENST00000372956.2	-	1	912	c.308A>C	c.(307-309)cAt>cCt	p.H103P	XKRX_ENST00000328526.5_Missense_Mutation_p.H116P|XKRX_ENST00000468904.1_Missense_Mutation_p.H103P			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GAGGATTAGATGCATAAATAA	0.403																																																	0								ENSG00000182489						107	105	105					X																	100182986		2203	4300	6503	XKRX	SO:0001583	missense	0			-	HGNC	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.308A>C	X.37:g.100182986T>G	ENSP00000362047:p.His103Pro	Somatic	0	51	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.54	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP							pfam_Transport_prot_XK	p.H116P	ENST00000372956.2	37	c.347	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992575	0.74703	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T;T	0.74632	-0.86;-0.86;-0.86	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.85786	0.1364	10	0.59425	D	0.04	-9.6927	11.8978	0.52665	0.0:0.0:0.0:1.0	.	103	Q6PP77	XKR2_HUMAN	P	116;103;103	ENSP00000327570:H116P;ENSP00000362047:H103P;ENSP00000419884:H103P	ENSP00000327570:H116P	H	-	2	0	XKRX	100069642	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.975000	0.76128	1.712000	0.51347	0.350000	0.21858	CAT	-	pfam_Transport_prot_XK		0.403	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	protein_coding	OTTHUMT00000057501.3	T	NM_212559	-		100182986	-1	no_errors	ENST00000328526	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100182986	T	G	100182986	3	3	8	1	0	0	0	0	1	0	0	0	17446	1464	51	5	1053	5	XKRX	23	100182986	Missense_Mutation	SNP	T	TCGA-3B-A9HS-01A-11D-A38Z-09	23251214	100182986	55087574	62	428											
COL4A6	1288	genome.wustl.edu	37	chrX	107415762	107415762	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgataccttgtgaacCcttcgaagcaatatgggaat	8	11	1	2			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:107415762C>A	ENST00000372216.4	-	32	3242	c.3142G>T	c.(3142-3144)Ggt>Tgt	p.G1048C	COL4A6_ENST00000334504.7_Splice_Site_p.G1047C|COL4A6_ENST00000394872.2_Splice_Site_p.G1048C|COL4A6_ENST00000538570.1_Splice_Site_p.G1047C|COL4A6_ENST00000545689.1_Splice_Site_p.G1047C	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1048	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTGTGAACCCTTCGAAGCA	0.502									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0								ENSG00000197565						134	118	123					X																	107415762		2203	4300	6503	COL4A6	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3142-1G>T	X.37:g.107415762C>A		Somatic	0	29	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1048C	ENST00000372216.4	37	c.3142	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548160	0.27652	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	5.29	5.29	0.74685	.	0.000000	0.42053	D	0.000763	D	0.99819	0.9920	H	0.98682	4.3	0.45172	D	0.998189	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	0.96755	0.9557	10	0.87932	D	0	.	16.8375	0.85960	0.0:1.0:0.0:0.0	.	1047;1047;1048;1047	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	C	1048;1047;1048;1047;1047;1047	ENSP00000361290:G1048C;ENSP00000334733:G1047C;ENSP00000378340:G1048C;ENSP00000443707:G1047C;ENSP00000445236:G1047C	ENSP00000334733:G1047C	G	-	1	0	COL4A6	107302418	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	6.050000	0.71063	2.549000	0.85964	0.600000	0.82982	GGT	-	pfam_Collagen		0.502	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	protein_coding	OTTHUMT00000057875.2	C		-	Missense_Mutation	107415762	-1	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107415762	C	A	107415762	5	1	8	1	0	0	0	0	0	0	1	0	3697	637	22	3	1989	3	COL4A6	23	107415762	Splice_Site	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	7232776	107415762	47854798	63	429											
IGSF1	3547	genome.wustl.edu	37	chrX	130413262	130413262	+	Frame_Shift_Del	DEL	G	G	-													caccacagcagagaagggccGtgactatgaagagcatggtg							TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:130413262delG	ENST00000361420.3	-	10	1779	c.1700delC	c.(1699-1701)acgfs	p.T567fs	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Frame_Shift_Del_p.T567fs|IGSF1_ENST00000370910.1_Frame_Shift_Del_p.T558fs|IGSF1_ENST00000370904.1_Frame_Shift_Del_p.T558fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	567					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGAAGGGCCGTGACTATGAA	0.617																																																	0								ENSG00000147255						57	53	54					X																	130413262		2203	4300	6503	IGSF1	SO:0001589	frameshift_variant	0				HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1700delC	X.37:g.130413262delG	ENSP00000355010:p.Thr567fs	Somatic	0	36	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Del	DEL							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T567fs	ENST00000361420.3	37	c.1700	CCDS14629.1	X																																																																																			-	NULL		0.617	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G				130413262	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	frame_shift_del	DEL	0.036	-	-	130413262	G	-	130413262	7	5	8	1	0	1	0	1	0	0	0	0	7598	1145	40	0	2369	0	IGSF1	23	130413262	Frame_Shift_Del	DEL	G	TCGA-3B-A9HS-01A-11D-A38Z-09	22997500	130413262	24857298	64	430											
F8	2157	genome.wustl.edu	37	chrX	154197706	154197706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggcgagatttccaaggaCgcctggcgatggttcctcac	12	11	1	1			TCGA-3B-A9HS-01A-11D-A38Z-09	TCGA-3B-A9HS-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8e72b9-4469-4d80-a5a0-df3fc36380ff	25e4da82-09d2-4931-b4ca-50d5f74599d1	g.chrX:154197706C>T	ENST00000360256.4	-	7	1109	c.909G>A	c.(907-909)gcG>gcA	p.A303A	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	303	F5/8 type A 1.|Plastocyanin-like 2.		A -> E (in HEMA; mild). {ECO:0000269|PubMed:8759905, ECO:0000269|PubMed:9886318}.|A -> P (in HEMA; mild). {ECO:0000269|PubMed:9029040}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCCAAGGACGCCTGGCGAT	0.453																																																	0								ENSG00000185010						147	129	135					X																	154197706		2203	4300	6503	F8	SO:0001819	synonymous_variant	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.909G>A	X.37:g.154197706C>T		Somatic	0	27	0		0.65020322669263				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	14.81	Q14286|Q5HY69	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.A303	ENST00000360256.4	37	c.909	CCDS35457.1	X																																																																																			-	superfamily_Cupredoxin		0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	C		-		154197706	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	silent	SNP	0.891	T	T	154197706	C	T	154197706	2	4	8	1	0	0	0	0	0	0	0	1	5352	523	19	1		1	F8	23	154197706	Silent	SNP	C	TCGA-3B-A9HS-01A-11D-A38Z-09	23784444	154197706	1072854	65	431											
PRDM16	63976	genome.wustl.edu	37	chr1	3329296	3329296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccaggtgtgcccggcGcggatgccccagcagccccc	13	20	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:3329296G>A	ENST00000270722.5	+	9	2584	c.2535G>A	c.(2533-2535)gcG>gcA	p.A845A	PRDM16_ENST00000441472.2_Silent_p.A845A|PRDM16_ENST00000514189.1_Silent_p.A846A|PRDM16_ENST00000378391.2_Silent_p.A845A|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.A845A|PRDM16_ENST00000378398.3_Silent_p.A846A|PRDM16_ENST00000511072.1_Silent_p.A846A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	845	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		TGTGCCCGGCGCGGATGCCCC	0.697			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								ENSG00000142611						7	9	8					1																	3329296		1798	3906	5704	PRDM16	SO:0001819	synonymous_variant	0			-	HGNC	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.2535G>A	1.37:g.3329296G>A		Somatic	0	11	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A845	ENST00000270722.5	37	c.2535	CCDS41236.2	1																																																																																			-	NULL		0.697	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	G	NM_022114	-		3329296	1	no_errors	ENST00000270722	ensembl	human	known	74_37	silent	SNP	0.039	A	A	3329296	G	A	3329296	2	1	9	1	0	0	0	0	0	0	0	1	12462	1074	38	1		1	PRDM16	1	3329296	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		3329296	245921325	1	432											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6529145	6529145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttttccgcatgatggTaggggagctggcagctgaag	16	8	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:6529145T>C	ENST00000400915.3	-	20	2440	c.2374A>G	c.(2374-2376)Acc>Gcc	p.T792A	TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.T736A|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.T815A|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.T736A|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.T813A|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.T773A|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.T736A|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.T813A|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.T736A|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.T736A|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.T736A|TNFRSF25_ENST00000351748.3_5'Flank|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.T805A	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	792					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)		CGCATGATGGTAGGGGAGCTG	0.607																																																	0								ENSG00000171680						83	81	82					1																	6529145		2203	4300	6503	PLEKHG5	SO:0001583	missense	0			-	HGNC	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.2374A>G	1.37:g.6529145T>C	ENSP00000383706:p.Thr792Ala	Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T815A	ENST00000400915.3	37	c.2443	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783201	0.49891	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.2;-0.22;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.39	4.26	0.50523	.	0.414736	0.28790	N	0.014128	T	0.54743	0.1877	L	0.27053	0.805	0.36770	D	0.883766	P;P;P;P;P	0.52692	0.955;0.955;0.622;0.955;0.925	P;P;B;P;B	0.48454	0.578;0.578;0.112;0.578;0.374	T	0.54827	-0.8235	10	0.10111	T	0.7	-37.6761	9.9244	0.41483	0.0:0.0811:0.0:0.9189	.	805;736;813;813;792	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	A	813;736;736;792;813;773;736;736;805;736;642;815;736	ENSP00000366977:T813A;ENSP00000344570:T736A;ENSP00000383704:T736A;ENSP00000383706:T792A;ENSP00000366969:T813A;ENSP00000366961:T773A;ENSP00000366957:T736A;ENSP00000366954:T736A;ENSP00000441445:T805A;ENSP00000366966:T736A;ENSP00000439625:T815A;ENSP00000437710:T736A	ENSP00000344570:T736A	T	-	1	0	PLEKHG5	6451732	0.995000	0.38212	0.999000	0.59377	0.377000	0.30045	2.240000	0.43088	0.898000	0.36418	0.379000	0.24179	ACC	-	NULL		0.607	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	T	NM_020631	-		6529145	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	SNP	1.000	C	C	6529145	T	C	6529145	3	2	9	1	0	0	0	0	1	0	0	0	12075	1638	57	5	826	5	PLEKHG5	1	6529145	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	3199849	6529145	242721476	2	433											
CELA2A	63036	genome.wustl.edu	37	chr1	15788100	15788100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtggtaccacacctgCggagggtccctgatagccaa	13	12	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:15788100C>T	ENST00000359621.4	+	3	199	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	58	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACCACACCTGCGGAGGGTCCC	0.612																																																	0								ENSG00000142615						118	103	108					1																	15788100		2203	4300	6503	CELA2A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.174C>T	1.37:g.15788100C>T		Somatic	0	63	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	B2R5I4|Q14243	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C58	ENST00000359621.4	37	c.174	CCDS157.1	1																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.612	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	protein_coding	OTTHUMT00000006445.1	C	NM_033440	-		15788100	1	no_errors	ENST00000359621	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15788100	C	T	15788100	2	4	9	1	0	0	0	0	0	0	0	1	3213	776	27	1		1	CELA2A	1	15788100	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	9258955	15788100	233462521	3	434											
ARHGEF10L	55160	genome.wustl.edu	37	chr1	17953982	17953982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaagagcgtcagtgaccGcagcagcctcaacaaggtga	12	12	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:17953982G>A	ENST00000361221.3	+	15	1727	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R484H|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R301H|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R484H|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R231H|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R523H|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.R281H	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	523						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)		GTCAGTGACCGCAGCAGCCTC	0.662																																																	0								ENSG00000074964						42	34	37					1																	17953982		2202	4300	6502	ARHGEF10L	SO:0001583	missense	0			-	HGNC	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.1568G>A	1.37:g.17953982G>A	ENSP00000355060:p.Arg523His	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	50.00	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.R523H	ENST00000361221.3	37	c.1568	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022586	0.54683	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.62105	0.37;0.4;0.22;0.4;0.05;0.14;2.35	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.63843	1.955	0.45284	D	0.998289	P;B;D;D;P;D;D;D	0.63046	0.936;0.426;0.982;0.992;0.936;0.962;0.992;0.975	B;B;P;P;B;P;P;P	0.56278	0.197;0.071;0.758;0.795;0.286;0.479;0.678;0.629	T	0.73569	-0.3941	10	0.48119	T	0.1	-29.7431	16.8475	0.85985	0.0:0.0:1.0:0.0	.	301;281;523;231;289;484;484;523	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	H	523;484;523;484;281;301;301;231	ENSP00000355060:R523H;ENSP00000399401:R484H;ENSP00000394621:R523H;ENSP00000364564:R484H;ENSP00000364569:R281H;ENSP00000364557:R301H;ENSP00000167825:R231H	ENSP00000167825:R231H	R	+	2	0	ARHGEF10L	17826569	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	6.196000	0.72094	2.555000	0.86185	0.462000	0.41574	CGC	-	NULL		0.662	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	protein_coding	OTTHUMT00000007147.1	G	NM_018125	-		17953982	1	no_errors	ENST00000361221	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17953982	G	A	17953982	3	1	9	1	0	0	0	0	1	0	0	0	895	1087	38	1	1622	1	ARHGEF10L	1	17953982	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2165882	17953982	231296639	4	435											
KIF17	57576	genome.wustl.edu	37	chr1	21014288	21014288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctgagtcttggagacatCgtcactgggcagagtgtcag	13	9	3	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:21014288C>T	ENST00000247986.2	-	8	1841	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.D411N|KIF17_ENST00000400463.3_Missense_Mutation_p.D511N			Q9P2E2	KIF17_HUMAN	kinesin family member 17	511					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTGGAGACATCGTCACTGGGC	0.552																																																	0								ENSG00000117245						88	83	84					1																	21014288		2203	4300	6503	KIF17	SO:0001583	missense	0			-	HGNC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1531G>A	1.37:g.21014288C>T	ENSP00000247986:p.Asp511Asn	Somatic	0	17	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D511N	ENST00000247986.2	37	c.1531	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720793	0.15372	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71579	-0.58;-0.46;-0.46	5.04	-0.415	0.12355	.	1.268100	0.06187	U	0.680688	T	0.50990	0.1648	L	0.39898	1.24	0.09310	N	1	B;B	0.33413	0.411;0.378	B;B	0.21917	0.037;0.024	T	0.23976	-1.0173	10	0.19590	T	0.45	.	1.369	0.02207	0.2948:0.3934:0.1435:0.1684	.	511;511	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	N	411;511;511	ENSP00000364184:D411N;ENSP00000383311:D511N;ENSP00000247986:D511N	ENSP00000247986:D511N	D	-	1	0	KIF17	20886875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.066000	0.14489	-0.227000	0.09884	-0.229000	0.12294	GAT	-	NULL		0.552	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	protein_coding	OTTHUMT00000276995.1	C	NM_020816	-		21014288	-1	no_errors	ENST00000247986	ensembl	human	known	74_37	missense	SNP	0.000	T	T	21014288	C	T	21014288	3	4	9	1	0	0	0	0	1	0	0	0	8281	884	31	1	1590	1	KIF17	1	21014288	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3060306	21014288	228236333	5	436											
KIF17	57576	genome.wustl.edu	37	chr1	21036298	21036298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagccccttcacgtacacGcccttctctgggtgctcctt	8	17	2	0	rs144285910		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:21036298G>A	ENST00000247986.2	-	4	814	c.504C>T	c.(502-504)ggC>ggT	p.G168G	KIF17_ENST00000375044.1_Silent_p.G68G|KIF17_ENST00000400463.3_Silent_p.G168G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	168	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCACGTACACGCCCTTCTCTG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		21306	0		0	False		,,,				2504	0																0								ENSG00000117245						89	56	67					1																	21036298		2203	4300	6503	KIF17	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.504C>T	1.37:g.21036298G>A		Somatic	0	15	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G168	ENST00000247986.2	37	c.504	CCDS213.1	1																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	protein_coding	OTTHUMT00000276995.1	G	NM_020816	rs144285910		21036298	-1	no_errors	ENST00000247986	ensembl	human	known	74_37	silent	SNP	0.120	A	A	21036298	G	A	21036298	2	1	9	1	0	0	0	0	0	0	0	1	8281	1074	38	1		1	KIF17	1	21036298	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	22010	21036298	228214323	6	437											
MACF1	23499	genome.wustl.edu	37	chr1	39800065	39800065	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggcagaagctaaaaaagaagGactgttaactaatgaagcag	11	5	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:39800065G>C	ENST00000372915.3	+	36	7907	c.7820G>C	c.(7819-7821)gGa>gCa	p.G2607A	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G2639A|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G1042A|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.G2602A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2607					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAAAGAAGGACTGTTAACT	0.423																																																	0								ENSG00000127603						72	74	73					1																	39800065		2203	4298	6501	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7820G>C	1.37:g.39800065G>C	ENSP00000362006:p.Gly2607Ala	Somatic	0	59	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	54	21.74	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G2639A	ENST00000372915.3	37	c.7916		1	.	.	.	.	.	.	.	.	.	.	G	8.394	0.840456	0.16891	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	D;D	0.85411	-1.98;-1.98	5.33	3.01	0.34805	.	0.315859	0.26731	N	0.022784	T	0.74412	0.3713	L	0.29908	0.895	0.80722	D	1	P	0.48694	0.914	B	0.38842	0.283	T	0.74532	-0.3634	10	0.59425	D	0.04	.	10.0856	0.42417	0.1957:0.0:0.8043:0.0	.	2607	Q9UPN3	MACF1_HUMAN	A	2607;1042	ENSP00000362006:G2607A;ENSP00000289893:G1042A	ENSP00000289893:G1042A	G	+	2	0	MACF1	39572652	1.000000	0.71417	0.803000	0.32268	0.822000	0.46500	3.739000	0.55075	0.910000	0.36722	0.561000	0.74099	GGA	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-		39800065	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	SNP	0.860	C	C	39800065	G	C	39800065	3	2	9	1	0	0	0	0	1	0	0	0	9146	1174	41	4	7896	4	MACF1	1	39800065	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	18763767	39800065	209450556	7	438											
MAST2	23139	genome.wustl.edu	37	chr1	46472045	46472045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcagtccccagccatgCggcctcgctcccggagcctc	12	19	0	0	rs372615184		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:46472045C>T	ENST00000361297.2	+	8	1163	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MAST2_ENST00000372009.2_Missense_Mutation_p.R294W	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCAGCCATGCGGCCTCGCTC	0.557																																																	0								ENSG00000086015	C	TRP/ARG	0,4214		0,0,2107	86	90	89		880	3.4	1	1		89	1,8471		0,1,4235	no	missense	MAST2	NM_015112.2	101	0,1,6342	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	294/1799	46472045	1,12685	2107	4236	6343	MAST2	SO:0001583	missense	0			-	HGNC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.880C>T	1.37:g.46472045C>T	ENSP00000354671:p.Arg294Trp	Somatic	0	25	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00		Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R294W	ENST00000361297.2	37	c.880	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883791	0.51908	0.0	1.18E-4	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000456625;ENST00000372008	T;T;T	0.48522	0.81;0.81;0.81	5.49	3.41	0.39046	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.92122	3.275	0.20703	N	0.999867	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.975;1.0;1.0	D;D;D;B;D;D	0.97110	0.998;0.992;0.998;0.405;1.0;1.0	T	0.72427	-0.4297	10	0.87932	D	0	-17.6884	16.0807	0.81003	0.319:0.681:0.0:0.0	.	2;294;2;158;294;294	B3KU51;Q6P0Q8-2;E7EWL1;E9PBM6;E7ERL6;Q6P0Q8	.;.;.;.;.;MAST2_HUMAN	W	294;294;2;158;179	ENSP00000354671:R294W;ENSP00000361079:R294W;ENSP00000361078:R179W	ENSP00000354671:R294W	R	+	1	2	MAST2	46244632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.010000	0.29898	1.278000	0.44430	0.563000	0.77884	CGG	-	pfam_MA_Ser/Thr_Kinase_dom		0.557	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	C	NM_015112	-		46472045	1	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	SNP	0.999	T	T	46472045	C	T	46472045	3	4	9	1	0	0	0	0	1	0	0	0	9327	759	27	1	910	1	MAST2	1	46472045	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6671980	46472045	202778576	8	439											
BEND5	79656	genome.wustl.edu	37	chr1	49201967	49201967	+	Frame_Shift_Del	DEL	T	T	-													gtttagggactgcatctttcTttttttttgtggcgacgcct							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:49201967delT	ENST00000371833.3	-	5	1138	c.1052delA	c.(1051-1053)aagfs	p.K352fs	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	352	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TGCATCTTTCTTTTTTTTTGT	0.463																																																	0								ENSG00000162373						152	142	145					1																	49201967		2203	4300	6503	BEND5	SO:0001589	frameshift_variant	0				HGNC	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1052delA	1.37:g.49201967delT	ENSP00000360899:p.Lys352fs	Somatic	0	27	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	43	28.33	D3DQ27|Q96A62|Q9HAI3	Frame_Shift_Del	DEL							pfam_BEN_domain	p.K351fs	ENST00000371833.3	37	c.1052	CCDS552.2	1																																																																																			-	pfam_BEN_domain		0.463	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	protein_coding	OTTHUMT00000022323.1	T	NM_024603			49201967	-1	no_errors	ENST00000371833	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	49201967	T	-	49201967	7	5	9	1	0	1	0	1	0	0	0	0	1401	1609	56	0	221	0	BEND5	1	49201967	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	2729922	49201967	200048654	9	440											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52704475	52704475	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagtgaagaatgtgatttCtccactgttatagacacacc	8	8	1	4			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:52704475C>T	ENST00000371591.1	+	3	1517	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ZFYVE9_ENST00000287727.3_Silent_p.F462F|ZFYVE9_ENST00000357206.2_Silent_p.F462F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	462					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AATGTGATTTCTCCACTGTTA	0.398																																																	0								ENSG00000157077						100	104	103					1																	52704475		2203	4299	6502	ZFYVE9	SO:0001819	synonymous_variant	0			-	HGNC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1386C>T	1.37:g.52704475C>T		Somatic	0	75	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP							pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.F462	ENST00000371591.1	37	c.1386	CCDS563.1	1																																																																																			-	pirsf_Znf_FYVE_SARA/endofin		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	C	NM_007324	-		52704475	1	no_errors	ENST00000287727	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52704475	C	T	52704475	2	4	9	1	0	0	0	0	0	0	0	1	17678	912	32	2		2	ZFYVE9	1	52704475	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3502508	52704475	196546146	10	441											
ECHDC2	55268	genome.wustl.edu	37	chr1	53364884	53364884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctactttgcccagccgcaCggcaatgggggcctagggaa	15	12	0	0	rs374095939		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:53364884C>T	ENST00000371522.4	-	8	808	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	ECHDC2_ENST00000358358.5_Missense_Mutation_p.V208M|ECHDC2_ENST00000536120.1_Missense_Mutation_p.V193M	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	239					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCAGCCGCACGGCAATGGGG	0.552																																																	0								ENSG00000121310	C	MET/VAL,,MET/VAL	0,4406		0,0,2203	79	71	73		715,,622	5.2	1	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	ECHDC2	NM_001198961.1,NM_001198962.1,NM_018281.3	21,,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	239/293,,208/262	53364884	1,13005	2203	4300	6503	ECHDC2	SO:0001583	missense	0			-	HGNC	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.715G>A	1.37:g.53364884C>T	ENSP00000360577:p.Val239Met	Somatic	0	50	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.55	D3DQ36|Q9NV38	Missense_Mutation	SNP							pfam_Crotonase_core_superfam	p.V239M	ENST00000371522.4	37	c.715	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713979	0.68730	0.0	1.16E-4	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120	T;T;T	0.69040	-0.37;-0.37;-0.37	5.18	5.18	0.71444	Crontonase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81118	-0.1078	10	0.48119	T	0.1	.	15.7147	0.77658	0.0:1.0:0.0:0.0	.	239;208	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	M	239;208;193	ENSP00000360577:V239M;ENSP00000351125:V208M;ENSP00000439264:V193M	ENSP00000351125:V208M	V	-	1	0	ECHDC2	53137472	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.370000	0.44240	2.692000	0.91855	0.491000	0.48974	GTG	-	NULL		0.552	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	protein_coding	OTTHUMT00000024712.3	C	NM_018281	-		53364884	-1	no_errors	ENST00000371522	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53364884	C	T	53364884	3	4	9	1	0	0	0	0	1	0	0	0	4896	536	19	1	175	1	ECHDC2	1	53364884	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	660409	53364884	195885737	11	442											
ACOT11	26027	genome.wustl.edu	37	chr1	55050452	55050452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagatgagccagctggTgctgccctgccacaccaacc	12	15	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:55050452T>C	ENST00000371316.3	+	2	240	c.158T>C	c.(157-159)gTg>gCg	p.V53A	ACOT11_ENST00000343744.2_Missense_Mutation_p.V53A|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	53	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGCCAGCTGGTGCTGCCCTGC	0.647																																					Ovarian(148;1440 1861 22015 32453 51933)												0								ENSG00000162390						94	74	81					1																	55050452		2203	4300	6503	ACOT11	SO:0001583	missense	0			-	HGNC	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.158T>C	1.37:g.55050452T>C	ENSP00000360366:p.Val53Ala	Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	14.81	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.V53A	ENST00000371316.3	37	c.158	CCDS592.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.193834	0.94960	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.52526	0.66;0.66	5.09	5.09	0.68999	.	0.056882	0.64402	D	0.000001	T	0.67344	0.2883	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;D	0.66847	0.867;0.947	T	0.68573	-0.5373	10	0.38643	T	0.18	-6.3778	15.1779	0.72931	0.0:0.0:0.0:1.0	.	53;53	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	A	53	ENSP00000340260:V53A;ENSP00000360366:V53A	ENSP00000340260:V53A	V	+	2	0	ACOT11	54823040	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	7.877000	0.87225	2.047000	0.60756	0.533000	0.62120	GTG	-	NULL		0.647	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	protein_coding	OTTHUMT00000027356.1	T	NM_015547	-		55050452	1	no_errors	ENST00000371316	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55050452	T	C	55050452	3	2	9	1	0	0	0	0	1	0	0	0	149	1696	59	5	164	5	ACOT11	1	55050452	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	1685568	55050452	194200169	12	443											
PDE4B	5142	genome.wustl.edu	37	chr1	66834587	66834587	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagggagacaaagagCgggagaggggaatggaaatt	17	5	0	3	rs201667673		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:66834587C>A	ENST00000329654.4	+	16	1967	c.1780C>A	c.(1780-1782)Cgg>Agg	p.R594R	PDE4B_ENST00000371045.5_Silent_p.R422R|PDE4B_ENST00000423207.2_Silent_p.R579R|PDE4B_ENST00000371049.3_Silent_p.R594R|PDE4B_ENST00000480109.2_Silent_p.R361R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	594					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGACAAAGAGCGGGAGAGGGG	0.458																																																	0								ENSG00000184588						94	91	92					1																	66834587		2203	4300	6503	PDE4B	SO:0001819	synonymous_variant	0			-	HGNC	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1780C>A	1.37:g.66834587C>A		Somatic	0	50	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	36	40.98	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R594	ENST00000329654.4	37	c.1780	CCDS632.1	1																																																																																			-	pfam_PDEase_catalytic_dom		0.458	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	protein_coding	OTTHUMT00000025188.3	C	NM_002600	-		66834587	1	no_errors	ENST00000329654	ensembl	human	known	74_37	silent	SNP	0.998	A	A	66834587	C	A	66834587	2	1	9	1	0	0	0	0	0	0	0	1	11642	759	27	3		3	PDE4B	1	66834587	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	11784135	66834587	182416034	13	444											
ANKRD13C	81573	genome.wustl.edu	37	chr1	70790568	70790568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatagctgatggcttccGccagagggctccatccctga	10	15	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:70790568G>A	ENST00000370944.4	-	3	858	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ANKRD13C_ENST00000262346.6_Intron	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	182					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GATGGCTTCCGCCAGAGGGCT	0.373																																																	0								ENSG00000118454						93	91	92					1																	70790568		2203	4300	6503	ANKRD13C	SO:0001583	missense	0			-	HGNC		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.545C>T	1.37:g.70790568G>A	ENSP00000359982:p.Ala182Val	Somatic	0	73	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	57	34.48	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP							pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A182V	ENST00000370944.4	37	c.545	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911407	0.92178	.	.	ENSG00000118454	ENST00000370944	T	0.63913	-0.07	4.96	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	L	0.33189	0.99	0.80722	D	1	D	0.65815	0.995	P	0.55667	0.781	T	0.59451	-0.7452	10	0.45353	T	0.12	.	18.208	0.89860	0.0:0.0:1.0:0.0	.	182	Q8N6S4	AN13C_HUMAN	V	182	ENSP00000359982:A182V	ENSP00000359982:A182V	A	-	2	0	ANKRD13C	70563156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.577000	0.98196	2.457000	0.83068	0.650000	0.86243	GCG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.373	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	protein_coding	OTTHUMT00000025903.1	G	NM_030816	-		70790568	-1	no_errors	ENST00000370944	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70790568	G	A	70790568	3	1	9	1	0	0	0	0	1	0	0	0	643	1087	38	1	1124	1	ANKRD13C	1	70790568	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3955981	70790568	178460053	14	445											
NEGR1	257194	genome.wustl.edu	37	chr1	71873148	71873148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattgtagaatggcattcTtcaggtagaatatgctggtg	11	4	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:71873148T>G	ENST00000357731.5	-	7	1285	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Missense_Mutation_p.K303T|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Missense_Mutation_p.K221T	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AATGGCATTCTTCAGGTAGAA	0.423																																																	0								ENSG00000172260						84	84	84					1																	71873148		2203	4300	6503	NEGR1	SO:0001583	missense	0			-	HGNC	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1046A>C	1.37:g.71873148T>G	ENSP00000350364:p.Lys349Thr	Somatic	0	62	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	73	12.05	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K349T	ENST00000357731.5	37	c.1046	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387548	0.61956	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.75050	0.52;0.68;-0.9	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	N	0.08118	0	0.45979	D	0.998792	P;P	0.43477	0.808;0.808	B;B	0.33295	0.161;0.161	T	0.60342	-0.7282	10	0.87932	D	0	-10.7955	16.1154	0.81302	0.0:0.0:0.0:1.0	.	303;349	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	T	349;221;303	ENSP00000350364:K349T;ENSP00000305938:K221T;ENSP00000413294:K303T	ENSP00000305938:K221T	K	-	2	0	NEGR1	71645736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.210000	0.71456	0.533000	0.62120	AAG	-	NULL		0.423	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	protein_coding	OTTHUMT00000026722.4	T	NM_173808	-		71873148	-1	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71873148	T	G	71873148	3	3	9	1	0	0	0	0	1	0	0	0	10319	1609	56	5	22	5	NEGR1	1	71873148	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	1082580	71873148	177377473	15	446											
FPGT	8790	genome.wustl.edu	37	chr1	74670596	74670597	+	Frame_Shift_Ins	INS	-	-	A													aatgttacttgctttttatgINSaaaaaataggcacactgagc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:74670596_74670597insA	ENST00000609362.1	+	4	902_903	c.865_866insA	c.(865-867)gaafs	p.E289fs	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370898.3_Frame_Shift_Ins_p.E302fs|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	289					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGCTTTTTATGAAAAAATAGGC	0.391																																																	0								ENSG00000254685																																			FPGT	SO:0001589	frameshift_variant	0				HGNC	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.871dupA	1.37:g.74670602_74670602dupA	ENSP00000476680:p.Glu289fs	Somatic	0	59	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Frame_Shift_Ins	INS							pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.I304fs	ENST00000609362.1	37	c.904_905	CCDS663.1	1																																																																																			-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase		0.391	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	protein_coding		-				74670597	1	no_errors	ENST00000370898	ensembl	human	known	74_37	frame_shift_ins	INS	0.995:0.991	A	A	74670597	-	A	74670596	7	5	9	1	0	1	1	0	0	0	0	0	6039	1291	45	0	879	0	FPGT	1	74670596	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	2797448	74670596	174580025	16	447											
RPL5	6125	genome.wustl.edu	37	chr1	93301874	93301874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttggatgcaggccttgCcagaactaccactggcaata	9	11	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:93301874C>T	ENST00000370321.3	+	5	542	c.452C>T	c.(451-453)gCc>gTc	p.A151V	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	151					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCAGGCCTTGCCAGAACTACC	0.478																																																	0								ENSG00000122406						90	95	93					1																	93301874		2203	4298	6501	RPL5	SO:0001583	missense	0			-	HGNC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.452C>T	1.37:g.93301874C>T	ENSP00000359345:p.Ala151Val	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	59	11.94	Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP							pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.A151V	ENST00000370321.3	37	c.452	CCDS741.1	1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645788	0.67358	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.63417	-0.04	4.84	4.84	0.62591	.	0.052334	0.85682	D	0.000000	T	0.36717	0.0977	L	0.28192	0.835	0.80722	D	1	B	0.21688	0.059	B	0.21360	0.034	T	0.22034	-1.0228	10	0.29301	T	0.29	.	18.0014	0.89198	0.0:1.0:0.0:0.0	.	151	P46777	RL5_HUMAN	V	101;151;101	ENSP00000359345:A151V	ENSP00000359338:A101V	A	+	2	0	RPL5	93074462	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.637000	0.83313	2.219000	0.72066	0.460000	0.39030	GCC	-	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc		0.478	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	protein_coding	OTTHUMT00000030058.2	C	NM_000969	-		93301874	1	no_errors	ENST00000370321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93301874	C	T	93301874	3	4	9	1	0	0	0	0	1	0	0	0	13605	739	26	2	470	2	RPL5	1	93301874	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	18631278	93301874	155948747	17	448											
WDR47	22911	genome.wustl.edu	37	chr1	109554234	109554234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcggcatgattggtcagaCgaggcaaagtcaaaagcaaa	11	8	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:109554234C>T	ENST00000369962.3	-	5	656	c.434G>A	c.(433-435)cGt>cAt	p.R145H	WDR47_ENST00000369965.4_Missense_Mutation_p.R145H|WDR47_ENST00000361054.3_Missense_Mutation_p.R117H|WDR47_ENST00000357672.3_Missense_Mutation_p.R117H|WDR47_ENST00000400794.3_Missense_Mutation_p.R152H			O94967	WDR47_HUMAN	WD repeat domain 47	145					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTGGTCAGACGAGGCAAAGT	0.438																																																	0								ENSG00000085433						168	167	167					1																	109554234		2203	4296	6499	WDR47	SO:0001583	missense	0			-	HGNC	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.434G>A	1.37:g.109554234C>T	ENSP00000358979:p.Arg145His	Somatic	0	92	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	59	35.87	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R152H	ENST00000369962.3	37	c.455	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576015	0.86645	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.59364	0.3;0.33;0.27;0.29;0.27	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.994;0.987;0.996;0.994	T	0.72763	-0.4195	10	0.87932	D	0	-41.3695	19.0307	0.92955	0.0:1.0:0.0:0.0	.	117;152;145;145	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	H	152;145;117;145;117;145;72;45	ENSP00000383599:R152H;ENSP00000358979:R145H;ENSP00000354339:R117H;ENSP00000358982:R145H;ENSP00000350301:R117H	ENSP00000350301:R117H	R	-	2	0	WDR47	109355757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.481000	0.83766	0.563000	0.77884	CGT	-	NULL		0.438	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	protein_coding	OTTHUMT00000032414.2	C	NM_014969	-		109554234	-1	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109554234	C	T	109554234	3	4	9	1	0	0	0	0	1	0	0	0	17307	536	19	1	2372	1	WDR47	1	109554234	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	16252360	109554234	139696387	18	449											
SARS	6301	genome.wustl.edu	37	chr1	109777945	109777945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatgagtggctccggccGgaggacctgcccatcaagta	15	12	1	1	rs376318089	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:109777945G>A	ENST00000234677.2	+	7	936	c.861G>A	c.(859-861)ccG>ccA	p.P287P	SARS_ENST00000369923.4_Silent_p.P287P	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	287					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GGCTCCGGCCGGAGGACCTGC	0.587													G|||	3	0.000599042	0	0	5008	,	,		19362	0		0	False		,,,				2504	0.0031																0								ENSG00000031698	G		2,4404	4.2+/-10.8	0,2,2201	90	81	84		861	-11.1	0.6	1		84	0,8600		0,0,4300	no	coding-synonymous	SARS	NM_006513.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		287/515	109777945	2,13004	2203	4300	6503	SARS	SO:0001819	synonymous_variant	0			-	HGNC	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.861G>A	1.37:g.109777945G>A		Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.P287	ENST00000234677.2	37	c.861	CCDS795.1	1																																																																																			-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1		0.587	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	protein_coding	OTTHUMT00000032394.2	G	NM_006513	-		109777945	1	no_errors	ENST00000369923	ensembl	human	known	74_37	silent	SNP	0.205	A	A	109777945	G	A	109777945	2	1	9	1	0	0	0	0	0	0	0	1	13852	1103	39	1		1	SARS	1	109777945	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	223711	109777945	139472676	19	450											
OLFML3	56944	genome.wustl.edu	37	chr1	114523089	114523089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaggccgacaccatcTccgggagagtggatcgtctg	14	11	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:114523089T>G	ENST00000320334.4	+	2	324	c.250T>G	c.(250-252)Tcc>Gcc	p.S84A	OLFML3_ENST00000393300.2_Missense_Mutation_p.S64A|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Missense_Mutation_p.S64A	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	84					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)		CGACACCATCTCCGGGAGAGT	0.592																																																	0								ENSG00000116774						78	80	79					1																	114523089		2203	4300	6503	OLFML3	SO:0001583	missense	0			-	HGNC	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.250T>G	1.37:g.114523089T>G	ENSP00000322273:p.Ser84Ala	Somatic	0	41	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP							pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.S84A	ENST00000320334.4	37	c.250	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	T	3.181	-0.167873	0.06461	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.87571	-2.27;-2.27;-2.27	5.36	0.0396	0.14205	.	0.397055	0.28442	N	0.015327	T	0.40171	0.1106	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	0.52049	-0.8627	10	0.02654	T	1	.	11.6121	0.51066	0.0988:0.0:0.6918:0.2094	.	64;84	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	A	64;84;64	ENSP00000358564:S64A;ENSP00000322273:S84A;ENSP00000376977:S64A	ENSP00000322273:S84A	S	+	1	0	OLFML3	114324612	0.000000	0.05858	0.838000	0.33150	0.803000	0.45373	0.593000	0.23999	0.006000	0.14734	-0.466000	0.05196	TCC	-	NULL		0.592	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	protein_coding	OTTHUMT00000033119.1	T	NM_020190	-		114523089	1	no_errors	ENST00000320334	ensembl	human	known	74_37	missense	SNP	0.166	G	G	114523089	T	G	114523089	3	3	9	1	0	0	0	0	1	0	0	0	10861	1551	54	5	256	5	OLFML3	1	114523089	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	4745144	114523089	134727532	20	451											
THBS3	7059	genome.wustl.edu	37	chr1	155172080	155172080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgggcatagtcaatgCccacaccagacacctgtgtg	11	14	1	1	rs200881809		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:155172080C>T	ENST00000368378.3	-	9	1090	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.G237D	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	357					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATAGTCAATGCCCACACCAGA	0.602																																																	0								ENSG00000169231						93	85	88					1																	155172080		2203	4300	6503	THBS3	SO:0001583	missense	0			-	HGNC	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1070G>A	1.37:g.155172080C>T	ENSP00000357362:p.Gly357Asp	Somatic	0	65	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G357D	ENST00000368378.3	37	c.1070	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865615	0.91511	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;D	0.87491	-1.71;-1.73;-2.26	5.44	5.44	0.79542	EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.93529	0.6868	10	0.66056	D	0.02	-32.1083	16.8112	0.85720	0.0:1.0:0.0:0.0	.	237;357;357;357	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	357;237;207	ENSP00000357362:G357D;ENSP00000392207:G237D;ENSP00000404040:G207D	ENSP00000357362:G357D	G	-	2	0	THBS3	153438704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.235000	0.78143	2.837000	0.97791	0.655000	0.94253	GGC	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	protein_coding	OTTHUMT00000086856.1	C	NM_007112	rs200881809		155172080	-1	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155172080	C	T	155172080	3	4	9	1	0	0	0	0	1	0	0	0	15862	739	26	2	1860	2	THBS3	1	155172080	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	40648991	155172080	94078541	21	452											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155924740	155924740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtctcaatcagggggAagtcctccctggatgggcat	12	12	3	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:155924740A>G	ENST00000361247.4	-	14	1835	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.F551S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.F578S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.F580S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.F624S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.F551S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	579					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)			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)					AATCAGGGGGAAGTCCTCCCT	0.488																																					Melanoma(178;35 2768 6610 28839)												0								ENSG00000116584						114	111	112					1																	155924740		2203	4300	6503	ARHGEF2	SO:0001583	missense	0			-	HGNC	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.1736T>C	1.37:g.155924740A>G	ENSP00000354837:p.Phe579Ser	Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.F580S	ENST00000361247.4	37	c.1739	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950978	0.53186	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.63417	-0.03;0.09;0.09;-0.03;-0.04	5.86	5.86	0.93980	Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000116	T	0.62600	0.2441	L	0.59436	1.845	0.52501	D	0.999957	B;D;B	0.76494	0.143;0.999;0.199	B;D;B	0.80764	0.076;0.994;0.159	T	0.63541	-0.6614	10	0.07813	T	0.8	-29.5622	14.2189	0.65812	1.0:0.0:0.0:0.0	.	623;579;578	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	551;579;580;551;578	ENSP00000315325:F551S;ENSP00000354837:F579S;ENSP00000357298:F580S;ENSP00000357299:F551S;ENSP00000314787:F578S	ENSP00000314787:F578S	F	-	2	0	ARHGEF2	154191364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.298000	0.89944	2.240000	0.73641	0.533000	0.62120	TTC	-	NULL		0.488	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	protein_coding	OTTHUMT00000046204.2	A	NM_004723	-		155924740	-1	no_errors	ENST00000368315	ensembl	human	known	74_37	missense	SNP	1.000	G	G	155924740	A	G	155924740	3	3	9	1	0	0	0	0	1	0	0	0	903	246	9	5	1260	5	ARHGEF2	1	155924740	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	752660	155924740	93325881	22	453											
TMEM79	84283	genome.wustl.edu	37	chr1	156256092	156256092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttatgcttttctgccCttcggccctttggggagcca	11	13	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:156256092C>A	ENST00000405535.2	+	3	970	c.799C>A	c.(799-801)Ctt>Att	p.L267I	TMEM79_ENST00000357501.2_Missense_Mutation_p.P28H|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.L267I	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	267					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTTTTCTGCCCTTCGGCCCTT	0.592																																																	0								ENSG00000163472						104	101	102					1																	156256092		2203	4300	6503	TMEM79	SO:0001583	missense	0			-	HGNC	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.799C>A	1.37:g.156256092C>A	ENSP00000384748:p.Leu267Ile	Somatic	0	51	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	B2RE22|D3DVB8	Missense_Mutation	SNP							NULL	p.L267I	ENST00000405535.2	37	c.799	CCDS1138.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.168795|3.168795	0.57584|0.57584	.|.	.|.	ENSG00000163472|ENSG00000163472	ENST00000295694;ENST00000405535|ENST00000357501;ENST00000456810	T;T|.	0.48522|.	0.81;0.81|.	5.82|5.82	4.91|4.91	0.64330|0.64330	.|.	0.127316|.	0.53938|.	D|.	0.000048|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.12182|0.12182	0.205|0.205	0.33804|0.33804	D|D	0.626974|0.626974	D|.	0.71674|.	0.998|.	D|.	0.65684|.	0.937|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|6	0.36615|0.87932	T|D	0.2|0	-16.6117|-16.6117	11.7495|11.7495	0.51841|0.51841	0.0:0.9184:0.0:0.0816|0.0:0.9184:0.0:0.0816	.|.	267|.	Q9BSE2|.	TMM79_HUMAN|.	I|H	267|28	ENSP00000295694:L267I;ENSP00000384748:L267I|.	ENSP00000295694:L267I|ENSP00000350100:P28H	L|P	+|+	1|2	0|0	TMEM79|TMEM79	154522716|154522716	0.732000|0.732000	0.28121|0.28121	0.210000|0.210000	0.23637|0.23637	0.984000|0.984000	0.73092|0.73092	1.613000|1.613000	0.36900|0.36900	1.462000|1.462000	0.47948|0.47948	0.561000|0.561000	0.74099|0.74099	CTT|CCT	-	NULL		0.592	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	protein_coding	OTTHUMT00000052101.1	C	NM_032323	-		156256092	1	no_errors	ENST00000295694	ensembl	human	known	74_37	missense	SNP	0.629	A	A	156256092	C	A	156256092	3	1	9	1	0	0	0	0	1	0	0	0	16210	681	24	3	805	3	TMEM79	1	156256092	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	331352	156256092	92994529	23	454											
KIRREL	55243	genome.wustl.edu	37	chr1	158058203	158058203	+	Frame_Shift_Del	DEL	C	C	-													cctgtgtctgggttgggaatCcccccctcactctcacctgg					rs548707549		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:158058203delC	ENST00000359209.6	+	8	1070	c.1003delC	c.(1003-1005)cccfs	p.P336fs	KIRREL_ENST00000360089.4_Frame_Shift_Del_p.P172fs|KIRREL_ENST00000368172.1_Frame_Shift_Del_p.P134fs|KIRREL_ENST00000368173.3_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.P233fs|KIRREL_ENST00000416935.2_Frame_Shift_Del_p.P236fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	336	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGTTGGGAATCCCCCCCTCAC	0.453																																																	0								ENSG00000183853						111	109	110					1																	158058203		2203	4300	6503	KIRREL	SO:0001589	frameshift_variant	0				HGNC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1003delC	1.37:g.158058203delC	ENSP00000352138:p.Pro336fs	Somatic	0	109	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	94	12.15	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L337fs	ENST00000359209.6	37	c.1003	CCDS1172.2	1																																																																																			-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.453	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	protein_coding	OTTHUMT00000058342.3	C	NM_018240			158058203	1	no_errors	ENST00000368173	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	158058203	C	-	158058203	7	5	9	1	0	1	0	1	0	0	0	0	8326	855	30	0	1033	0	KIRREL	1	158058203	Frame_Shift_Del	DEL	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1802111	158058203	91192418	24	455											
CCDC19	25790	genome.wustl.edu	37	chr1	159857724	159857724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttccttggccacctcctcCaggtcactgagcttcttgtt	8	15	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:159857724C>T	ENST00000368099.4	-	5	559	c.495G>A	c.(493-495)ctG>ctA	p.L165L	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Silent_p.L80L	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCACCTCCTCCAGGTCACTGA	0.547																																																	0								ENSG00000213085						280	239	253					1																	159857724		2203	4300	6503	CCDC19	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000368099.4:c.495G>A	1.37:g.159857724C>T		Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	49	24.62		Silent	SNP							NULL	p.L165	ENST00000368099.4	37	c.495	CCDS30914.1	1																																																																																			-	NULL		0.547	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	protein_coding	OTTHUMT00000085979.1	C		-		159857724	-1	no_errors	ENST00000368099	ensembl	human	known	74_37	silent	SNP	1.000	T	T	159857724	C	T	159857724	2	4	9	1	0	0	0	0	0	0	0	1	2797	581	21	2		2	CCDC19	1	159857724	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1799521	159857724	89392897	25	456											
TADA1	117143	genome.wustl.edu	37	chr1	166826839	166826839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctccttggctgccaagcGctggcggtgaactttgtctt	11	14	1	1	rs200689473		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:166826839G>A	ENST00000367874.4	-	8	1066	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	325					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						GCTGCCAAGCGCTGGCGGTGA	0.448																																																	0								ENSG00000152382	G	CYS/ARG	0,4406		0,0,2203	100	104	103		973	4.8	1	1		103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TADA1	NM_053053.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	325/336	166826839	2,13004	2203	4300	6503	TADA1	SO:0001583	missense	0			-	HGNC	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.973C>T	1.37:g.166826839G>A	ENSP00000356848:p.Arg325Cys	Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	A8K4J9	Missense_Mutation	SNP							superfamily_Histone-fold	p.R325C	ENST00000367874.4	37	c.973	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305383	0.60305	0.0	2.33E-4	ENSG00000152382	ENST00000367874	T	0.50001	0.76	4.75	4.75	0.60458	.	0.054385	0.64402	D	0.000001	T	0.19366	0.0465	L	0.36672	1.1	0.40131	D	0.976720	P	0.51537	0.946	B	0.34346	0.18	T	0.29518	-1.0009	9	0.87932	D	0	-9.7338	10.655	0.45669	0.0:0.0:0.809:0.191	.	325	Q96BN2	TADA1_HUMAN	C	325	ENSP00000356848:R325C	ENSP00000356848:R325C	R	-	1	0	TADA1	165093463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.800000	0.62524	2.604000	0.88044	0.655000	0.94253	CGC	-	NULL		0.448	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	protein_coding	OTTHUMT00000082881.1	G	NM_053053	rs200689473		166826839	-1	no_errors	ENST00000367874	ensembl	human	known	74_37	missense	SNP	1.000	A	A	166826839	G	A	166826839	3	1	9	1	0	0	0	0	1	0	0	0	15516	1087	38	1	38	1	TADA1	1	166826839	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	6969115	166826839	82423782	26	457											
MPZL1	9019	genome.wustl.edu	37	chr1	167745358	167745358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcggaagtccccctcCgacactgagggtcttgtaaa	10	14	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:167745358C>T	ENST00000359523.2	+	5	865	c.663C>T	c.(661-663)tcC>tcT	p.S221S	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Intron|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	221					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGTCCCCCTCCGACACTGAGG	0.468																																																	0								ENSG00000197965						76	73	74					1																	167745358		2203	4300	6503	MPZL1	SO:0001819	synonymous_variant	0			-	HGNC	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.663C>T	1.37:g.167745358C>T		Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.S221	ENST00000359523.2	37	c.663	CCDS1264.1	1																																																																																			-	NULL		0.468	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	protein_coding	OTTHUMT00000083655.2	C	NM_024569	-		167745358	1	no_errors	ENST00000359523	ensembl	human	known	74_37	silent	SNP	0.997	T	T	167745358	C	T	167745358	2	4	9	1	0	0	0	0	0	0	0	1	9751	639	23	1		1	MPZL1	1	167745358	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	918519	167745358	81505263	27	458											
SELL	6402	genome.wustl.edu	37	chr1	169679644	169679644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctctgggtgctctgacaTttccatggaaatatctgcaa	8	11	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:169679644T>G	ENST00000236147.4	-	2	217	c.57A>C	c.(55-57)aaA>aaC	p.K19N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	6					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGCTCTGACATTTCCATGGAA	0.358																																																	0								ENSG00000188404						59	55	56					1																	169679644		1829	4076	5905	SELL	SO:0001583	missense	0			-	HGNC	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.57A>C	1.37:g.169679644T>G	ENSP00000236147:p.Lys19Asn	Somatic	0	52	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	91	8.08	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.K19N	ENST00000236147.4	37	c.57	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556684	0.45487	.	.	ENSG00000188404	ENST00000236147	T	0.15139	2.45	4.75	1.25	0.21368	.	0.231591	0.29822	N	0.011120	T	0.07279	0.0184	M	0.67953	2.075	0.09310	N	1	P;P	0.50272	0.933;0.883	B;B	0.41135	0.348;0.348	T	0.13818	-1.0495	10	0.72032	D	0.01	-12.9824	6.0409	0.19734	0.0:0.3115:0.0:0.6885	.	19;6	Q8WW79;P14151	.;LYAM1_HUMAN	N	19	ENSP00000236147:K19N	ENSP00000236147:K19N	K	-	3	2	SELL	167946268	0.173000	0.23056	0.011000	0.14972	0.090000	0.18270	1.199000	0.32235	0.413000	0.25759	0.454000	0.30748	AAA	-	pirsf_L-selectin		0.358	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	protein_coding	OTTHUMT00000084233.1	T	NM_000655	-		169679644	-1	no_errors	ENST00000236147	ensembl	human	known	74_37	missense	SNP	0.013	G	G	169679644	T	G	169679644	3	3	9	1	0	0	0	0	1	0	0	0	14024	1490	52	5	1132	5	SELL	1	169679644	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	1934286	169679644	79570977	28	459											
SEC16B	89866	genome.wustl.edu	37	chr1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-													tgcgcaggtgtctccacactGggggggatctctcccgtgag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:177927333delG	ENST00000308284.6	-	10	1388	c.1299delC	c.(1297-1299)cccfs	p.P433fs	SEC16B_ENST00000464631.2_Frame_Shift_Del_p.P434fs|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	433					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTCCACACTGGGGGGGATCT	0.567																																																	0								ENSG00000120341						34	37	36					1																	177927333		1945	4142	6087	SEC16B	SO:0001589	frameshift_variant	0				HGNC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1299delC	1.37:g.177927333delG	ENSP00000308339:p.Pro433fs	Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL							NULL	p.S434fs	ENST00000308284.6	37	c.1299	CCDS44281.1	1																																																																																			-	NULL		0.567	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	protein_coding	OTTHUMT00000084773.16	G	NM_033127			177927333	-1	no_errors	ENST00000308284	ensembl	human	known	74_37	frame_shift_del	DEL	0.033	-	-	177927333	G	-	177927333	7	5	9	1	0	1	0	1	0	0	0	0	13995	1335	47	0	1951	0	SEC16B	1	177927333	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09	8247689	177927333	71323288	29	460											
CEP350	9857	genome.wustl.edu	37	chr1	180010302	180010302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgccatgaaagagacttGgccctcttgaaactaaaggc	9	11	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:180010302G>A	ENST00000367607.3	+	18	4558	c.4140G>A	c.(4138-4140)ttG>ttA	p.L1380L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1380					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAGAGACTTGGCCCTCTTGA	0.403																																																	0								ENSG00000135837						39	36	37					1																	180010302		2202	4300	6502	CEP350	SO:0001819	synonymous_variant	0			-	HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4140G>A	1.37:g.180010302G>A		Somatic	0	69	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	46	39.24	O75068|Q8TDK3|Q8WY20	Silent	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L1380	ENST00000367607.3	37	c.4140	CCDS1336.1	1																																																																																			-	NULL		0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	G	NM_014810	-		180010302	1	no_errors	ENST00000367607	ensembl	human	known	74_37	silent	SNP	1.000	A	A	180010302	G	A	180010302	2	1	9	1	0	0	0	0	0	0	0	1	3256	1339	47	2		2	CEP350	1	180010302	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2082969	180010302	69240319	30	461											
GLUL	2752	genome.wustl.edu	37	chr1	182354539	182354539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgctgaagttggtatgGcagcctgcaccattccagtt	12	9	0	1	rs369513842		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:182354539G>A	ENST00000331872.6	-	6	1296	c.756C>T	c.(754-756)tgC>tgT	p.C252C	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Silent_p.C252C|GLUL_ENST00000339526.4_Silent_p.C252C|GLUL_ENST00000417584.2_Silent_p.C252C	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	252					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.C252C(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	AGTTGGTATGGCAGCCTGCAC	0.522																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000135821	G	,,	1,4405	2.1+/-5.4	0,1,2202	57	54	55		756,756,756	3.6	1	1		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GLUL	NM_001033044.2,NM_001033056.2,NM_002065.5	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	252/374,252/374,252/374	182354539	1,13005	2203	4300	6503	GLUL	SO:0001819	synonymous_variant	0			-	HGNC	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.756C>T	1.37:g.182354539G>A		Somatic	0	25	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Silent	SNP							pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.C252	ENST00000331872.6	37	c.756	CCDS1344.1	1																																																																																			-	pfam_Gln_synth_cat_dom		0.522	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	protein_coding	OTTHUMT00000091043.1	G	NM_002065	-		182354539	-1	no_errors	ENST00000311223	ensembl	human	known	74_37	silent	SNP	1.000	A	A	182354539	G	A	182354539	2	1	9	1	0	0	0	0	0	0	0	1	6480	1195	42	2		2	GLUL	1	182354539	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2344237	182354539	66896082	31	462											
LAMC1	3915	genome.wustl.edu	37	chr1	182993178	182993178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccttcctgaccgactaCaacaaccaggccgacaccac	7	18	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:182993178C>T	ENST00000258341.4	+	1	584	c.327C>T	c.(325-327)taC>taT	p.Y109Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	109	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			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						TGACCGACTACAACAACCAGG	0.657											OREG0014040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000135862						39	35	37					1																	182993178		2203	4299	6502	LAMC1	SO:0001819	synonymous_variant	0			-	HGNC	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.327C>T	1.37:g.182993178C>T		Somatic	0	79	0	1981	0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	Q5VYE7	Silent	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Y109	ENST00000258341.4	37	c.327	CCDS1351.1	1																																																																																			-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.657	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	C	NM_002293	-		182993178	1	no_errors	ENST00000258341	ensembl	human	known	74_37	silent	SNP	1.000	T	T	182993178	C	T	182993178	2	4	9	1	0	0	0	0	0	0	0	1	8616	489	17	2		2	LAMC1	1	182993178	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	638639	182993178	66257443	32	463											
HMCN1	83872	genome.wustl.edu	37	chr1	186056382	186056382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagattattcgggccaaggTatcagatggtggtgaataca	12	6	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:186056382T>C	ENST00000271588.4	+	59	9309	c.9080T>C	c.(9079-9081)gTa>gCa	p.V3027A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V3027A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3027	Ig-like C2-type 28.				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)			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						CGGGCCAAGGTATCAGATGGT	0.383																																																	0								ENSG00000143341						148	141	144					1																	186056382		2203	4300	6503	HMCN1	SO:0001583	missense	0			-	HGNC	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.9080T>C	1.37:g.186056382T>C	ENSP00000271588:p.Val3027Ala	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	56	37.78	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V3027A	ENST00000271588.4	37	c.9080	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059087	0.36373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.28666	1.6;1.6	5.63	3.25	0.37280	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.498297	0.23856	N	0.043883	T	0.15089	0.0364	N	0.05467	-0.045	0.29798	N	0.832667	B	0.28584	0.216	B	0.37198	0.243	T	0.34079	-0.9843	10	0.08179	T	0.78	.	7.0709	0.25177	0.1301:0.0741:0.0:0.7958	.	3027	Q96RW7	HMCN1_HUMAN	A	3027	ENSP00000271588:V3027A;ENSP00000356462:V3027A	ENSP00000271588:V3027A	V	+	2	0	HMCN1	184323005	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	3.646000	0.54396	0.375000	0.24679	0.533000	0.62120	GTA	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	T	NM_031935	-		186056382	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	1.000	C	C	186056382	T	C	186056382	3	2	9	1	0	0	0	0	1	0	0	0	7222	1638	57	5	9314	5	HMCN1	1	186056382	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	3063204	186056382	63194239	33	464											
SLC41A1	254428	genome.wustl.edu	37	chr1	205779322	205779322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggtggcgcagggccaCggtctgtgctgacgtcgtca	18	10	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:205779322C>T	ENST00000367137.3	-	2	1262	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	83					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGCAGGGCCACGGTCTGTGCT	0.622																																																	0								ENSG00000133065						157	133	141					1																	205779322		2203	4300	6503	SLC41A1	SO:0001583	missense	0			-	HGNC	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.248G>A	1.37:g.205779322C>T	ENSP00000356105:p.Arg83His	Somatic	0	51	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	24.19	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP							pfam_SLC41_membr_dom	p.R83H	ENST00000367137.3	37	c.248	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291265	0.40494	.	.	ENSG00000133065	ENST00000367137	T	0.31769	1.48	5.62	-3.81	0.04294	.	0.708789	0.15030	N	0.284499	T	0.14056	0.0340	N	0.17474	0.49	0.21579	N	0.999631	D	0.54772	0.968	B	0.41036	0.346	T	0.24621	-1.0155	10	0.42905	T	0.14	-16.1578	7.0092	0.24853	0.0:0.4062:0.1847:0.4091	.	83	Q8IVJ1	S41A1_HUMAN	H	83	ENSP00000356105:R83H	ENSP00000356105:R83H	R	-	2	0	SLC41A1	204045945	0.002000	0.14202	0.008000	0.14137	0.606000	0.37113	0.004000	0.13106	-0.702000	0.05056	-1.108000	0.02087	CGT	-	NULL		0.622	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	protein_coding	OTTHUMT00000087731.1	C		-		205779322	-1	no_errors	ENST00000367137	ensembl	human	known	74_37	missense	SNP	0.001	T	T	205779322	C	T	205779322	3	4	9	1	0	0	0	0	1	0	0	0	14637	536	19	1	1333	1	SLC41A1	1	205779322	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	19722940	205779322	43471299	34	465											
HSD11B1	3290	genome.wustl.edu	37	chr1	209880054	209880054	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgctgtatcactgcagGtggtatcccactgcctggag	11	11	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:209880054G>A	ENST00000367028.2	+	4	389	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	HSD11B1_ENST00000261465.1_Splice_Site_p.V74M|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Splice_Site_p.V74M	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	74					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	ATCACTGCAGGTGGTATCCCA	0.522																																																	0								ENSG00000117594						186	175	179					1																	209880054		2203	4300	6503	HSD11B1	SO:0001630	splice_region_variant	0			-	HGNC	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.220-1G>A	1.37:g.209880054G>A		Somatic	0	24	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	B2R9Z1|D3DT89	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.V74M	ENST00000367028.2	37	c.220	CCDS1489.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012955	0.54468	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.88509	-2.39;-2.39;-2.39	5.16	3.29	0.37713	NAD(P)-binding domain (1);	0.125426	0.53938	D	0.000042	D	0.93733	0.7997	M	0.83012	2.62	0.45704	D	0.99861	D	0.89917	1.0	D	0.75020	0.985	D	0.93239	0.6624	9	.	.	.	.	12.0382	0.53438	0.1445:0.0:0.8555:0.0	.	74	P28845	DHI1_HUMAN	M	74	ENSP00000355995:V74M;ENSP00000261465:V74M;ENSP00000355994:V74M	.	V	+	1	0	HSD11B1	207946677	1.000000	0.71417	0.992000	0.48379	0.518000	0.34316	3.525000	0.53502	0.840000	0.34995	0.563000	0.77884	GTG	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.522	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	protein_coding	OTTHUMT00000088743.2	G	NM_005525	-	Missense_Mutation	209880054	1	no_errors	ENST00000261465	ensembl	human	known	74_37	missense	SNP	1.000	A	A	209880054	G	A	209880054	5	1	9	1	0	0	0	0	0	0	1	0	7377	1275	44	2	230	2	HSD11B1	1	209880054	Splice_Site	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4100732	209880054	39370567	35	466											
PROX1	5629	genome.wustl.edu	37	chr1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-													tgaaaaaagcaaagctcatgTttttttatacccgttatccc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:214178556delT	ENST00000366958.4	+	3	2382	c.1774delT	c.(1774-1776)tttfs	p.F593fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.F593fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.F593fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.F593fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	593					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|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)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAAGCTCATGTTTTTTTATAC	0.383																																																	0								ENSG00000117707						120	120	120					1																	214178556		2203	4300	6503	PROX1	SO:0001589	frameshift_variant	0				HGNC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1774delT	1.37:g.214178556delT	ENSP00000355925:p.Phe593fs	Somatic	0	80	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	76	35.04	A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL							pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.Y594fs	ENST00000366958.4	37	c.1774	CCDS31021.1	1																																																																																			-	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like		0.383	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	protein_coding	OTTHUMT00000089727.6	T	NM_002763			214178556	1	no_errors	ENST00000261454	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	214178556	T	-	214178556	7	5	9	1	0	1	0	1	0	0	0	0	12565	1725	60	0	1780	0	PROX1	1	214178556	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	4298502	214178556	35072065	36	467											
OR1C1	26188	genome.wustl.edu	37	chr1	247921501	247921501	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcgacgtaaagcagatgtCaacaaaggccaagttactaa	9	8	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:247921501C>G	ENST00000408896.2	-	1	481	c.208G>C	c.(208-210)Gac>Cac	p.D70H		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	70					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(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)			AAGCAGATGTCAACAAAGGCC	0.483																																																	0								ENSG00000221888						77	73	74					1																	247921501		2082	4238	6320	OR1C1	SO:0001583	missense	0			-	HGNC	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.208G>C	1.37:g.247921501C>G	ENSP00000386138:p.Asp70His	Somatic	0	61	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	54	28.95	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D70H	ENST00000408896.2	37	c.208	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247098	0.39697	.	.	ENSG00000221888	ENST00000408896	T	0.01185	5.21	2.81	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14356	0.0347	H	0.99169	4.455	0.34536	D	0.709752	D	0.89917	1.0	D	0.97110	1.0	T	0.53063	-0.8491	9	0.87932	D	0	.	13.6641	0.62384	0.0:1.0:0.0:0.0	.	70	Q15619	OR1C1_HUMAN	H	70	ENSP00000386138:D70H	ENSP00000386138:D70H	D	-	1	0	OR1C1	245988124	0.966000	0.33281	0.749000	0.31150	0.019000	0.09904	3.642000	0.54367	1.572000	0.49736	0.580000	0.79431	GAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	protein_coding	OTTHUMT00000096855.1	C		-		247921501	-1	no_errors	ENST00000408896	ensembl	human	known	74_37	missense	SNP	0.980	G	G	247921501	C	G	247921501	3	3	9	1	0	0	0	0	1	0	0	0	10954	826	29	4	738	4	OR1C1	1	247921501	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	33742945	247921501	1329120	37	468											
OR2T4	127074	genome.wustl.edu	37	chr1	248525879	248525879	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataaggatgtcatgggggctCtgaagaaaatgttaacagtg	13	4	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:248525879C>T	ENST00000366475.1	+	1	997	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	333						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L333M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CATGGGGGCTCTGAAGAAAAT	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000196944						107	113	111					1																	248525879		2203	4300	6503	OR2T4	SO:0001819	synonymous_variant	0			-	HGNC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.997C>T	1.37:g.248525879C>T		Somatic	0	125	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	104	14.63	Q6IEZ8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L333	ENST00000366475.1	37	c.997	CCDS31113.1	1																																																																																			-	NULL		0.408	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	protein_coding	OTTHUMT00000097349.2	C	NM_001004696	-		248525879	1	no_errors	ENST00000366475	ensembl	human	known	74_37	silent	SNP	0.008	T	T	248525879	C	T	248525879	2	4	9	1	0	0	0	0	0	0	0	1	11029	912	32	2		2	OR2T4	1	248525879	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	604378	248525879	724742	38	469											
GREB1	9687	genome.wustl.edu	37	chr2	11767167	11767167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgtccaagtacgcagcGtacaacacttaccaccactg	7	14	0	1	rs541354837		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:11767167G>A	ENST00000381486.2	+	25	4686	c.4386G>A	c.(4384-4386)gcG>gcA	p.A1462A	GREB1_ENST00000396123.1_Silent_p.A460A|GREB1_ENST00000234142.5_Silent_p.A1462A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1462						integral component of membrane (GO:0016021)		p.A1462A(1)		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)		AGTACGCAGCGTACAACACTT	0.587													G|||	1	0.000199681	0	0	5008	,	,		20049	0		0	False		,,,				2504	0.001				Ovarian(39;850 945 2785 23371 33093)												1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000196208						81	89	87					2																	11767167		2137	4245	6382	GREB1	SO:0001819	synonymous_variant	0			-	HGNC		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.4386G>A	2.37:g.11767167G>A		Somatic	0	71	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP							superfamily_P-loop_NTPase	p.A1462	ENST00000381486.2	37	c.4386	CCDS42655.1	2																																																																																			-	NULL		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	G	NM_014668	-		11767167	1	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	SNP	0.000	A	A	11767167	G	A	11767167	2	1	9	1	0	0	0	0	0	0	0	1	6762	1132	40	1		1	GREB1	2	11767167	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		11767167	231432206	39	470											
NT5C1B	93034	genome.wustl.edu	37	chr2	18767589	18767589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgggctccgggatatTctagaccattgactgcgcac	13	10	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:18767589T>C	ENST00000359846.2	-	4	446	c.369A>G	c.(367-369)agA>agG	p.R123R	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R123R|NT5C1B_ENST00000600945.1_Silent_p.R123R|NT5C1B_ENST00000304081.4_Silent_p.R63R|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	123	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCCGGGATATTCTAGACCATT	0.488																																																	0								ENSG00000185013						160	143	149					2																	18767589		2203	4300	6503	NT5C1B	SO:0001819	synonymous_variant	0			-	HGNC	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.369A>G	2.37:g.18767589T>C		Somatic	0	54	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	65	22.62	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP							pfam_5-nucleotidase	p.R123	ENST00000359846.2	37	c.369	CCDS33150.1	2																																																																																			-	NULL		0.488	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	protein_coding	OTTHUMT00000323822.1	T		-		18767589	-1	no_errors	ENST00000359846	ensembl	human	known	74_37	silent	SNP	0.119	C	C	18767589	T	C	18767589	2	2	9	1	0	0	0	0	0	0	0	1	10688	1780	62	5		5	NT5C1B	2	18767589	Silent	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	7000422	18767589	224431784	40	471											
ITSN2	50618	genome.wustl.edu	37	chr2	24484029	24484029	+	Frame_Shift_Del	DEL	T	T	-													acagttcgagtgaaggctgaTtttttctgccatgatgtatt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:24484029delT	ENST00000355123.4	-	22	3071	c.2628delA	c.(2626-2628)aaafs	p.K876fs	ITSN2_ENST00000361999.3_Frame_Shift_Del_p.K849fs|ITSN2_ENST00000406921.3_Frame_Shift_Del_p.K876fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	876					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGGCTGATTTTTTCTGCC	0.368																																																	0								ENSG00000198399						135	126	129					2																	24484029		2203	4300	6503	ITSN2	SO:0001589	frameshift_variant	0				HGNC	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2628delA	2.37:g.24484029delT	ENSP00000347244:p.Lys876fs	Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.88	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL							pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.K876fs	ENST00000355123.4	37	c.2628	CCDS1710.2	2																																																																																			-	superfamily_SH3_domain		0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	protein_coding	OTTHUMT00000207620.2	T	NM_006277			24484029	-1	no_errors	ENST00000355123	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	24484029	T	-	24484029	7	5	9	1	0	1	0	1	0	0	0	0	7929	1490	52	0	2592	0	ITSN2	2	24484029	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	5716440	24484029	218715344	41	472											
DNMT3A	1788	genome.wustl.edu	37	chr2	25464487	25464487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatcttcccctggtgccGcaccatgcccaccgtgatgg	10	16	1	2	rs375399431		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:25464487G>A	ENST00000264709.3	-	17	2363	c.2026C>T	c.(2026-2028)Cgg>Tgg	p.R676W	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R453W|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R676W|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R487W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	676	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.R676W(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)					CCCTGGTGCCGCACCATGCCC	0.627			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000119772	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	149	95	113		2026,1459,2026	5.4	1	2		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	676/913,487/724,676/913	25464487	1,13005	2203	4300	6503	DNMT3A	SO:0001583	missense	0			-	HGNC		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.2026C>T	2.37:g.25464487G>A	ENSP00000264709:p.Arg676Trp	Somatic	0	13	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.R676W	ENST00000264709.3	37	c.2026	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837170	0.91117	0.0	1.16E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.44	5.44	0.79542	.	0.115412	0.64402	D	0.000013	D	0.98074	0.9365	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.66602	0.935;0.945	D	0.98657	1.0682	10	0.87932	D	0	-10.3061	13.6788	0.62472	0.0:0.0:0.845:0.155	.	676;487	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	W	487;676;676;453	ENSP00000370122:R487W;ENSP00000324375:R676W;ENSP00000264709:R676W;ENSP00000384237:R453W	ENSP00000264709:R676W	R	-	1	2	DNMT3A	25317991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	2.568000	0.86640	0.555000	0.69702	CGG	-	pfam_C5_MeTfrase		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552	-		25464487	-1	no_errors	ENST00000264709	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25464487	G	A	25464487	3	1	9	1	0	0	0	0	1	0	0	0	4678	1086	38	1	740	1	DNMT3A	2	25464487	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	980458	25464487	217734886	42	473											
CIB4	130106	genome.wustl.edu	37	chr2	26852317	26852317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctggtccatggtgagCgttgcctccttgtagtactt	11	11	0	2	rs376716139		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:26852317C>T	ENST00000288861.4	-	3	200	c.147G>A	c.(145-147)acG>acA	p.T49T		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	49							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGGTGAGCGTTGCCTCCT	0.602																																																	0								ENSG00000157884	C		0,4406		0,0,2203	82	58	66		147	-10.5	0	2		66	2,8592		0,2,4295	no	coding-synonymous	CIB4	NM_001029881.1		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		49/186	26852317	2,12998	2203	4297	6500	CIB4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.147G>A	2.37:g.26852317C>T		Somatic	0	30	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	B2RU18	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.T49	ENST00000288861.4	37	c.147	CCDS33160.1	2																																																																																			-	NULL		0.602	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	protein_coding	OTTHUMT00000324709.1	C		-		26852317	-1	no_errors	ENST00000288861	ensembl	human	known	74_37	silent	SNP	0.005	T	T	26852317	C	T	26852317	2	4	9	1	0	0	0	0	0	0	0	1	3425	755	27	1		1	CIB4	2	26852317	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1387830	26852317	216347056	43	474											
HEATR5B	54497	genome.wustl.edu	37	chr2	37295977	37295977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatgtgtttgtgttgcccGaggatgggaaaccagatcaa	12	8	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:37295977G>A	ENST00000233099.5	-	8	1119	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R342W	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	342						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTGTTGCCCGAGGATGGGAA	0.493																																																	0								ENSG00000008869						86	74	78					2																	37295977		2203	4300	6503	HEATR5B	SO:0001583	missense	0			-	HGNC	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1024C>T	2.37:g.37295977G>A	ENSP00000233099:p.Arg342Trp	Somatic	0	56	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	62	21.52	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R342W	ENST00000233099.5	37	c.1024	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826793	0.90955	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08984	3.03;3.03	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.00139	-1.2001	10	0.72032	D	0.01	-16.5687	20.0762	0.97745	0.0:0.0:1.0:0.0	.	342	Q9P2D3	HTR5B_HUMAN	W	342	ENSP00000233099:R342W;ENSP00000346531:R342W	ENSP00000233099:R342W	R	-	1	2	HEATR5B	37149481	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.722000	0.61958	2.756000	0.94617	0.655000	0.94253	CGG	-	superfamily_ARM-type_fold		0.493	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	protein_coding	OTTHUMT00000325492.1	G	NM_019024	-		37295977	-1	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37295977	G	A	37295977	3	1	9	1	0	0	0	0	1	0	0	0	7034	1057	37	1	5307	1	HEATR5B	2	37295977	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	10443660	37295977	205903396	44	475											
SPTBN1	6711	genome.wustl.edu	37	chr2	54855380	54855380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaagttcgcaacagaCggggaaggtaaggatggccc	15	10	0	2	rs551964268	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:54855380C>T	ENST00000356805.4	+	13	2072	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	SPTBN1_ENST00000333896.5_Silent_p.D584D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	597					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCGCAACAGACGGGGAAGGTA	0.512													C|||	2	0.000399361	0.0015	0	5008	,	,		21573	0		0	False		,,,				2504	0																0								ENSG00000115306						83	72	76					2																	54855380		2203	4300	6503	SPTBN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1791C>T	2.37:g.54855380C>T		Somatic	0	41	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D597	ENST00000356805.4	37	c.1791	CCDS33198.1	2																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.512	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	protein_coding	OTTHUMT00000258115.3	C		-		54855380	1	no_errors	ENST00000356805	ensembl	human	known	74_37	silent	SNP	0.846	T	T	54855380	C	T	54855380	2	4	9	1	0	0	0	0	0	0	0	1	15126	535	19	1		1	SPTBN1	2	54855380	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	17559403	54855380	188343993	45	476											
USP34	9736	genome.wustl.edu	37	chr2	61505330	61505330	+	Frame_Shift_Del	DEL	T	T	-													cttgaaaatttaaagggtggTttgtgtttaacaacacttgt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:61505330delT	ENST00000398571.2	-	41	5479	c.5403delA	c.(5401-5403)aaafs	p.K1801fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1801					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)			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)			TAAAGGGTGGTTTGTGTTTAA	0.343																																																	0								ENSG00000115464						95	83	87					2																	61505330		1865	4099	5964	USP34	SO:0001589	frameshift_variant	0				HGNC	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.5403delA	2.37:g.61505330delT	ENSP00000381577:p.Lys1801fs	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Del	DEL							pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.K1801fs	ENST00000398571.2	37	c.5403	CCDS42686.1	2																																																																																			-	NULL		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	protein_coding	OTTHUMT00000325650.4	T				61505330	-1	no_errors	ENST00000398571	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	61505330	T	-	61505330	7	5	9	1	0	1	0	1	0	0	0	0	17072	1722	60	0	5397	0	USP34	2	61505330	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	6649950	61505330	181694043	46	477											
SLC4A5	57835	genome.wustl.edu	37	chr2	74492351	74492351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggggcttgctccagcGttcgccgccttcctctacct	10	17	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:74492351G>A	ENST00000377634.4	-	9	841	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R148C|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R148C|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R148C|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R148C|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R84C|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R148C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R84C					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGCTCCAGCGTTCGCCGCCT	0.607																																																	0								ENSG00000188687						148	139	142					2																	74492351		2203	4300	6503	SLC4A5	SO:0001583	missense	0			-	HGNC	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.442C>T	2.37:g.74492351G>A	ENSP00000366861:p.Arg148Cys	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45		Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R148C	ENST00000377634.4	37	c.442	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078579	0.76528	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.79	3.84	0.44239	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	H	0.96142	3.775	0.58432	D	0.999996	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	D	0.89086	0.3479	10	0.87932	D	0	.	9.8849	0.41255	0.0:0.0:0.7026:0.2974	.	148;148;84;148;148	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	C	148;148;148;84;148;84;148;148;148;148;32	ENSP00000377587:R148C;ENSP00000251768:R148C;ENSP00000352461:R84C;ENSP00000395804:R148C;ENSP00000351513:R84C;ENSP00000350475:R148C;ENSP00000366859:R148C;ENSP00000366861:R148C;ENSP00000405678:R148C;ENSP00000414162:R32C	ENSP00000251768:R148C	R	-	1	0	SLC4A5	74345859	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	2.641000	0.89580	0.591000	0.81541	CGC	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk		0.607	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	G		-		74492351	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	missense	SNP	0.999	A	A	74492351	G	A	74492351	3	1	9	1	0	0	0	0	1	0	0	0	14665	1145	40	1	3063	1	SLC4A5	2	74492351	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	12987021	74492351	168707022	47	478											
DCTN1	1639	genome.wustl.edu	37	chr2	74596522	74596522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacgcttctgggcctcacGaacccgcgcgcctgccatgt	10	18	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:74596522G>A	ENST00000361874.3	-	14	1806	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	DCTN1_ENST00000394003.3_Missense_Mutation_p.R490C|DCTN1_ENST00000409567.3_Missense_Mutation_p.R477C|DCTN1_ENST00000409240.1_Missense_Mutation_p.R460C|DCTN1_ENST00000409868.1_Missense_Mutation_p.R480C|DCTN1_ENST00000407639.2_Missense_Mutation_p.R363C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.R363C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	497					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)			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						TGGGCCTCACGAACCCGCGCG	0.592																																																	0								ENSG00000204843						96	96	96					2																	74596522		2203	4300	6503	DCTN1	SO:0001583	missense	0			-	HGNC		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.1489C>T	2.37:g.74596522G>A	ENSP00000354791:p.Arg497Cys	Somatic	0	13	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP							pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.R497C	ENST00000361874.3	37	c.1489	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401083	0.62288	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.11;-1.19	5.91	3.88	0.44766	.	0.000000	0.39615	N	0.001320	D	0.88610	0.6483	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.80764	0.964;0.992;0.99;0.917;0.962;0.994	D	0.90809	0.4700	10	0.72032	D	0.01	-5.7637	15.4321	0.75108	0.0:0.0:0.7304:0.2696	.	477;460;497;490;363;363	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	497;490;480;363;363;460;480;477	ENSP00000354791:R497C;ENSP00000377571:R490C;ENSP00000384844:R363C;ENSP00000387270:R363C;ENSP00000386406:R460C;ENSP00000387327:R480C;ENSP00000386843:R477C	ENSP00000354791:R497C	R	-	1	0	DCTN1	74450030	1.000000	0.71417	0.589000	0.28718	0.599000	0.36880	3.618000	0.54188	1.437000	0.47472	0.655000	0.94253	CGT	-	superfamily_P-loop_NTPase		0.592	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	protein_coding	OTTHUMT00000252227.3	G	NM_004082	-		74596522	-1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	SNP	0.942	A	A	74596522	G	A	74596522	3	1	9	1	0	0	0	0	1	0	0	0	4308	1058	37	1	2423	1	DCTN1	2	74596522	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	104171	74596522	168602851	48	479											
LRRTM1	347730	genome.wustl.edu	37	chr2	80529882	80529882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtggaaggcgtacacggcgtCcaggacgtcctcgccctgtg	15	13	0	0	rs377040455		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:80529882C>G	ENST00000295057.3	-	2	1719	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D355H|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	355	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TACACGGCGTCCAGGACGTCC	0.682										HNSCC(69;0.2)																																							0								ENSG00000162951	C	,,HIS/ASP	1,4403		0,1,2201	20	19	20		,,1063	5.3	1	2		20	0,8600		0,0,4300	no	intron,intron,missense	CTNNA2,LRRTM1	NM_001164883.1,NM_004389.3,NM_178839.4	,,81	0,1,6501	GG,GC,CC		0.0,0.0227,0.0077	,,probably-damaging	,,355/523	80529882	1,13003	2202	4300	6502	LRRTM1	SO:0001583	missense	0			-	HGNC	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1063G>C	2.37:g.80529882C>G	ENSP00000295057:p.Asp355His	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D355H	ENST00000295057.3	37	c.1063	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831834	0.71258	2.27E-4	0.0	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.48201	0.82;0.82	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.72439	0.3460	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75062	-0.3450	9	.	.	.	.	18.8459	0.92205	0.0:1.0:0.0:0.0	.	355	Q86UE6	LRRT1_HUMAN	H	355	ENSP00000295057:D355H;ENSP00000386646:D355H	.	D	-	1	0	LRRTM1	80383393	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.808000	0.86044	2.416000	0.81992	0.655000	0.94253	GAC	-	NULL		0.682	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	protein_coding	OTTHUMT00000313614.1	C	NM_178839	-		80529882	-1	no_errors	ENST00000295057	ensembl	human	known	74_37	missense	SNP	1.000	G	G	80529882	C	G	80529882	3	3	9	1	0	0	0	0	1	0	0	0	9041	855	30	4	509	4	LRRTM1	2	80529882	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5933360	80529882	162669491	49	480											
MRPL35	51318	genome.wustl.edu	37	chr2	86437709	86437709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaactcttagataaaatgaCgacgtccttctggaagaggc	9	8	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:86437709C>T	ENST00000337109.4	+	4	519	c.485C>T	c.(484-486)aCg>aTg	p.T162M	MRPL35_ENST00000409180.1_Missense_Mutation_p.T162M|MRPL35_ENST00000605125.1_3'UTR|MRPL35_ENST00000254644.8_Missense_Mutation_p.T162M	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	162					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GATAAAATGACGACGTCCTTC	0.368																																																	0								ENSG00000132313						84	81	82					2																	86437709		2203	4300	6503	MRPL35	SO:0001583	missense	0			-	HGNC	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"Mitochondrial ribosomal proteins / large subunits"	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.485C>T	2.37:g.86437709C>T	ENSP00000338389:p.Thr162Met	Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	50	38.27	A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP							pfam_Ribosomal_L35	p.T162M	ENST00000337109.4	37	c.485	CCDS1988.1	2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019373	0.93462	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.16324	2.35;2.61;2.35	5.53	5.53	0.82687	.	0.042432	0.85682	D	0.000000	T	0.46833	0.1413	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46898	-0.9158	10	0.87932	D	0	-16.3329	19.4895	0.95044	0.0:1.0:0.0:0.0	.	162	Q9NZE8	RM35_HUMAN	M	162	ENSP00000254644:T162M;ENSP00000338389:T162M;ENSP00000386255:T162M	ENSP00000254644:T162M	T	+	2	0	MRPL35	86291220	1.000000	0.71417	0.960000	0.40013	0.958000	0.62258	7.381000	0.79718	2.596000	0.87737	0.655000	0.94253	ACG	-	pfam_Ribosomal_L35		0.368	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL35	protein_coding	OTTHUMT00000091002.2	C	NM_016622	-		86437709	1	no_errors	ENST00000337109	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86437709	C	T	86437709	3	4	9	1	0	0	0	0	1	0	0	0	9800	536	19	1	499	1	MRPL35	2	86437709	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5907827	86437709	156761664	50	481											
EIF2AK3	9451	genome.wustl.edu	37	chr2	88885453	88885453	+	Frame_Shift_Del	DEL	A	A	-													ctatttctttccaccagtgtAaaagaagaacaggatccttt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:88885453delA	ENST00000303236.3	-	9	1857	c.1556delT	c.(1555-1557)ttafs	p.L519fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.L368fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	519					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CCACCAGTGTAAAAGAAGAAC	0.413																																					GBM(138;671 1851 16235 39058 45249)												0								ENSG00000172071						236	218	224					2																	88885453		2203	4300	6503	EIF2AK3	SO:0001589	frameshift_variant	0				HGNC	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1556delT	2.37:g.88885453delA	ENSP00000307235:p.Leu519fs	Somatic	0	77	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	70	35.19	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L519fs	ENST00000303236.3	37	c.1556	CCDS33241.1	2																																																																																			-	NULL		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	protein_coding	OTTHUMT00000338233.2	A	NM_004836			88885453	-1	no_errors	ENST00000303236	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88885453	A	-	88885453	7	5	9	1	0	1	0	1	0	0	0	0	5000	372	13	0	1830	0	EIF2AK3	2	88885453	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	2447744	88885453	154313920	51	482											
PROM2	150696	genome.wustl.edu	37	chr2	95941702	95941702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtacgaggcgggctacGtggtatgcgctgtgatcgcg	18	9	0	1	rs142809353	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:95941702G>A	ENST00000317620.9	+	3	452	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.V107M|PROM2_ENST00000542147.1_Missense_Mutation_p.V107M|PROM2_ENST00000403131.2_Missense_Mutation_p.V107M	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	107					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCGGGCTACGTGGTATGCGC	0.697																																																	0								ENSG00000155066	G	MET/VAL,MET/VAL,MET/VAL	5,4397		0,5,2196	21	31	27		319,319,319	1.6	1	2	dbSNP_134	27	32,8564		0,32,4266	yes	missense,missense,missense	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	21,21,21	0,37,6462	AA,AG,GG		0.3723,0.1136,0.2847	possibly-damaging,possibly-damaging,possibly-damaging	107/835,107/835,107/835	95941702	37,12961	2201	4298	6499	PROM2	SO:0001583	missense	0			-	HGNC	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.319G>A	2.37:g.95941702G>A	ENSP00000318270:p.Val107Met	Somatic	0	9	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP							pfam_Prominin	p.V107M	ENST00000317620.9	37	c.319	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108498	0.37242	0.001136	0.003723	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.77	1.63	0.23807	.	0.230537	0.28754	N	0.014252	T	0.58466	0.2124	M	0.72118	2.19	0.36113	D	0.844949	D	0.76494	0.999	D	0.63381	0.914	T	0.62923	-0.6751	10	0.45353	T	0.12	-10.7629	7.4143	0.27036	0.0:0.3531:0.4652:0.1816	.	107	Q8N271	PROM2_HUMAN	M	107	ENSP00000385716:V107M;ENSP00000318520:V107M;ENSP00000318270:V107M;ENSP00000442542:V107M	ENSP00000318270:V107M	V	+	1	0	PROM2	95305429	0.100000	0.21855	0.996000	0.52242	0.039000	0.13416	0.176000	0.16782	0.380000	0.24823	0.462000	0.41574	GTG	-	pfam_Prominin		0.697	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	protein_coding	OTTHUMT00000252771.1	G	NM_144707	rs142809353		95941702	1	no_errors	ENST00000317620	ensembl	human	known	74_37	missense	SNP	0.997	A	A	95941702	G	A	95941702	3	1	9	1	0	0	0	0	1	0	0	0	12561	1145	40	1	329	1	PROM2	2	95941702	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7056249	95941702	147257671	52	483											
ARID5A	10865	genome.wustl.edu	37	chr2	97217649	97217649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaagagactgcgggccGtgtctccctttcttaaggag	15	9	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:97217649G>A	ENST00000357485.3	+	7	1462	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	ARID5A_ENST00000454558.2_Missense_Mutation_p.V394M	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	462					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGCGGGCCGTGTCTCCCTT	0.677																																																	0								ENSG00000196843						26	27	26					2																	97217649		2202	4299	6501	ARID5A	SO:0001583	missense	0			-	HGNC	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1384G>A	2.37:g.97217649G>A	ENSP00000350078:p.Val462Met	Somatic	0	14	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	Q6NX37	Missense_Mutation	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.V462M	ENST00000357485.3	37	c.1384	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983249	0.74474	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.77229	-1.08	5.31	5.31	0.75309	.	0.000000	0.45361	D	0.000379	D	0.86912	0.6047	M	0.69823	2.125	0.41786	D	0.989847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	D	0.88043	0.2782	10	0.72032	D	0.01	-27.3544	14.8351	0.70177	0.0:0.0:1.0:0.0	.	462;394;462	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	M	462;462;394	ENSP00000350078:V462M	ENSP00000350078:V462M	V	+	1	0	ARID5A	96581376	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	4.128000	0.57951	2.641000	0.89580	0.650000	0.86243	GTG	-	NULL		0.677	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	protein_coding	OTTHUMT00000338888.2	G	NM_212481	-		97217649	1	no_errors	ENST00000357485	ensembl	human	known	74_37	missense	SNP	0.997	A	A	97217649	G	A	97217649	3	1	9	1	0	0	0	0	1	0	0	0	921	1145	40	1	1410	1	ARID5A	2	97217649	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1275947	97217649	145981724	53	484											
TFCP2L1	29842	genome.wustl.edu	37	chr2	122000043	122000043	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttccgatcggctcccttCggctgcgagcagagtacaga	12	12	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:122000043C>T	ENST00000263707.5	-	7	757	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	220					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CGGCTCCCTTCGGCTGCGAGC	0.582																																																	0								ENSG00000115112						218	212	214					2																	122000043		2203	4300	6503	TFCP2L1	SO:0001819	synonymous_variant	0			-	HGNC	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.660G>A	2.37:g.122000043C>T		Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q4ZG43	Silent	SNP							pfam_CP2,superfamily_SAM/pointed	p.P220	ENST00000263707.5	37	c.660	CCDS2134.1	2																																																																																			-	pfam_CP2		0.582	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	protein_coding	OTTHUMT00000338539.1	C	NM_014553	-		122000043	-1	no_errors	ENST00000263707	ensembl	human	known	74_37	silent	SNP	0.294	T	T	122000043	C	T	122000043	2	4	9	1	0	0	0	0	0	0	0	1	15803	871	31	1		1	TFCP2L1	2	122000043	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	24782394	122000043	121199330	54	485											
HS6ST1	9394	genome.wustl.edu	37	chr2	129075797	129075797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggccggcagtcgcacggcAcctcgaggcgtacgttctgc	15	15	1	0	rs199993343		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:129075797A>C	ENST00000259241.6	-	1	354	c.341T>G	c.(340-342)gTg>gGg	p.V114G	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	114					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.V114G(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTCGCACGGCACCTCGAGGCG	0.662																																																	1	Substitution - Missense(1)	liver(1)						ENSG00000136720						2	4	3					2																	129075797		1196	3527	4723	HS6ST1	SO:0001583	missense	0			-	HGNC	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.341T>G	2.37:g.129075797A>C	ENSP00000259241:p.Val114Gly	Somatic	0	26	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP							pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.V114G	ENST00000259241.6	37	c.341	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	a	15.67	2.902312	0.52227	.	.	ENSG00000136720	ENST00000259241	D	0.82526	-1.62	3.69	3.69	0.42338	.	0.000000	0.85682	U	0.000000	T	0.77452	0.4132	N	0.22421	0.69	0.80722	D	1	D	0.53462	0.96	P	0.51777	0.679	T	0.74592	-0.3614	9	.	.	.	.	10.2637	0.43443	1.0:0.0:0.0:0.0	.	114	O60243	H6ST1_HUMAN	G	114	ENSP00000259241:V114G	.	V	-	2	0	HS6ST1	128792267	0.855000	0.29742	1.000000	0.80357	0.942000	0.58702	0.276000	0.18716	1.308000	0.44962	0.260000	0.18958	GTG	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	protein_coding	OTTHUMT00000331572.1	A	NM_004807	rs199993343		129075797	-1	no_errors	ENST00000259241	ensembl	human	known	74_37	missense	SNP	1.000	C	C	129075797	A	C	129075797	3	2	9	1	0	0	0	0	1	0	0	0	7372	159	6	5	902	5	HS6ST1	2	129075797	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	7075754	129075797	114123576	55	486											
TUBA3D	113457	genome.wustl.edu	37	chr2	132238232	132238232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgttgtacaggggggaCgtggtccccaaagacgtcaa	14	9	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:132238232C>T	ENST00000321253.6	+	4	1073	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	322					'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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACAGGGGGGACGTGGTCCCCA	0.567																																					Ovarian(137;2059 2432 35543 39401)												0								ENSG00000075886						129	129	129					2																	132238232		2203	4300	6503	TUBA3D	SO:0001819	synonymous_variant	0			-	HGNC	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.966C>T	2.37:g.132238232C>T		Somatic	0	54	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	30	48.28	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.D322	ENST00000321253.6	37	c.966	CCDS33290.1	2																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin		0.567	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	protein_coding	OTTHUMT00000331800.2	C	NM_080386	-		132238232	1	no_errors	ENST00000321253	ensembl	human	known	74_37	silent	SNP	1.000	T	T	132238232	C	T	132238232	2	4	9	1	0	0	0	0	0	0	0	1	16754	535	19	1		1	TUBA3D	2	132238232	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3162435	132238232	110961141	56	487											
R3HDM1	23518	genome.wustl.edu	37	chr2	136396582	136396582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agattcagacagctctcttcGaaacctgaaacctgctgtaa	7	11	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:136396582G>A	ENST00000264160.4	+	14	1479	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R326Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R370Q|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R326Q|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R314Q	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	370							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)		AGCTCTCTTCGAAACCTGAAA	0.488																																																	0								ENSG00000048991						116	127	123					2																	136396582		2203	4300	6503	R3HDM1	SO:0001583	missense	0			-	HGNC	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.1109G>A	2.37:g.136396582G>A	ENSP00000264160:p.Arg370Gln	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R370Q	ENST00000264160.4	37	c.1109	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827814	0.90955	.	.	ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.34859	1.42;1.34;1.43;1.35;1.34	5.46	4.58	0.56647	.	0.117332	0.64402	D	0.000010	T	0.57607	0.2065	M	0.72353	2.195	0.35549	D	0.803725	B;P;D;D	0.76494	0.266;0.929;0.999;0.999	B;B;D;D	0.72625	0.027;0.191;0.978;0.978	T	0.68040	-0.5514	10	0.40728	T	0.16	-9.8505	14.4044	0.67071	0.0714:0.0:0.9286:0.0	.	326;370;314;370	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	Q	326;326;370;326;314;370	ENSP00000386457:R326Q;ENSP00000264160:R370Q;ENSP00000331396:R326Q;ENSP00000386877:R314Q;ENSP00000387010:R370Q	ENSP00000264160:R370Q	R	+	2	0	R3HDM1	136113052	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.923000	0.87546	1.297000	0.44761	0.655000	0.94253	CGA	-	NULL		0.488	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	G	NM_015361	-		136396582	1	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136396582	G	A	136396582	3	1	9	1	0	0	0	0	1	0	0	0	12895	1058	37	1	1155	1	R3HDM1	2	136396582	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4158350	136396582	106802791	57	488											
LRP1B	53353	genome.wustl.edu	37	chr2	141762962	141762962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcacaagcacacacccgGcctcctgggatagccaagca	10	16	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:141762962G>A	ENST00000389484.3	-	15	3416	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	815	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CACACACCCGGCCTCCTGGGA	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						84	81	82					2																	141762962		2203	4300	6503	LRP1B	SO:0001819	synonymous_variant	0			-	HGNC	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.2445C>T	2.37:g.141762962G>A		Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	73	13.95	Q8WY29|Q8WY30|Q8WY31	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G815	ENST00000389484.3	37	c.2445	CCDS2182.1	2																																																																																			-	smart_EG-like_dom		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		141762962	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	0.993	A	A	141762962	G	A	141762962	2	1	9	1	0	0	0	0	0	0	0	1	8957	1190	42	2		2	LRP1B	2	141762962	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	5366380	141762962	101436411	58	489											
GPD2	2820	genome.wustl.edu	37	chr2	157414067	157414067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcattttgaatgaagtgCgtaattacctgagttgtgat	9	5	1	4			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:157414067C>T	ENST00000310454.6	+	9	1510	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.R380C|GPD2_ENST00000409125.4_Missense_Mutation_p.R153C|GPD2_ENST00000409674.1_Missense_Mutation_p.R380C	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	380					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAATGAAGTGCGTAATTACCT	0.408																																																	0								ENSG00000115159						119	102	108					2																	157414067		2203	4300	6503	GPD2	SO:0001583	missense	0			-	HGNC		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1138C>T	2.37:g.157414067C>T	ENSP00000308610:p.Arg380Cys	Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.R380C	ENST00000310454.6	37	c.1138	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480073	0.84747	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	6.03	6.03	0.97812	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.72576	2.205	0.80722	D	1	B	0.28470	0.213	B	0.35813	0.211	T	0.60347	-0.7281	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	380	P43304	GPDM_HUMAN	C	380;153;380;380	ENSP00000308610:R380C;ENSP00000386484:R153C;ENSP00000409708:R380C;ENSP00000386425:R380C	ENSP00000308610:R380C	R	+	1	0	GPD2	157122313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CGT	-	pfam_FAD-dep_OxRdtase		0.408	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	protein_coding	OTTHUMT00000254910.3	C		-		157414067	1	no_errors	ENST00000310454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	157414067	C	T	157414067	3	4	9	1	0	0	0	0	1	0	0	0	6608	768	27	1	1168	1	GPD2	2	157414067	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	15651105	157414067	85785306	59	490											
SCN2A	6326	genome.wustl.edu	37	chr2	166170230	166170230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcctttttgtccttatttCgtctcatgactcaagacttc	7	11	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:166170230C>T	ENST00000375437.2	+	9	1425	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	SCN2A_ENST00000283256.6_Missense_Mutation_p.R379C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R379C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R379C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	379					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R379C(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCTTATTTCGTCTCATGAC	0.413																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000136531						115	108	110					2																	166170230		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1135C>T	2.37:g.166170230C>T	ENSP00000364586:p.Arg379Cys	Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R379C	ENST00000375437.2	37	c.1135	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308608	0.81247	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.77	5.77	0.91146	Ion transport (1);	0.207319	0.35320	N	0.003293	D	0.99004	0.9660	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.99174	1.0865	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	379;379	Q99250-2;Q99250	.;SCN2A_HUMAN	C	379	ENSP00000406454:R379C;ENSP00000364586:R379C;ENSP00000349973:R379C;ENSP00000283256:R379C;ENSP00000364576:R379C	ENSP00000283256:R379C	R	+	1	0	SCN2A	165878476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.102000	0.71486	2.885000	0.99019	0.655000	0.94253	CGT	-	pfam_Ion_trans_dom		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166170230	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166170230	C	T	166170230	3	4	9	1	0	0	0	0	1	0	0	0	13924	884	31	1	1261	1	SCN2A	2	166170230	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	8756163	166170230	77029143	60	491											
STRADB	55437	genome.wustl.edu	37	chr2	202339398	202339398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctatcccactttttccGgcatcccaatattacaactt	3	13	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:202339398G>A	ENST00000194530.3	+	6	709	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	STRADB_ENST00000392249.2_Missense_Mutation_p.R115Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CACTTTTTCCGGCATCCCAAT	0.383																																																	0								ENSG00000082146						93	95	94					2																	202339398		2203	4300	6503	STRADB	SO:0001583	missense	0			-	HGNC	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.344G>A	2.37:g.202339398G>A	ENSP00000194530:p.Arg115Gln	Somatic	0	89	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.54	Q5BKY7|Q9P1L0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R115Q	ENST00000194530.3	37	c.344	CCDS2348.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253499	0.39797	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249	T;T;T	0.64991	-0.13;2.75;2.75	6.07	3.19	0.36642	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236127	0.43747	N	0.000530	T	0.47040	0.1424	L	0.41824	1.3	0.34494	D	0.705348	B	0.12013	0.005	B	0.14023	0.01	T	0.46219	-0.9207	10	0.13108	T	0.6	.	8.6442	0.33996	0.3872:0.0:0.6128:0.0	.	115	Q9C0K7	STRAB_HUMAN	Q	60;115;115;115	ENSP00000409552:R60Q;ENSP00000194530:R115Q;ENSP00000376080:R115Q	ENSP00000194530:R115Q	R	+	2	0	STRADB	202047643	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.176000	0.31957	0.383000	0.24910	-0.345000	0.07892	CGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.383	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	protein_coding	OTTHUMT00000256297.1	G	NM_018571	-		202339398	1	no_errors	ENST00000194530	ensembl	human	known	74_37	missense	SNP	0.996	A	A	202339398	G	A	202339398	3	1	9	1	0	0	0	0	1	0	0	0	15332	1116	39	1	362	1	STRADB	2	202339398	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	36169168	202339398	40859975	61	492											
ABCA12	26154	genome.wustl.edu	37	chr2	215831612	215831612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgacatgttaactcgcagAaggaaattattcaggctgtt	9	6	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:215831612A>G	ENST00000272895.7	-	39	6063	c.5844T>C	c.(5842-5844)ctT>ctC	p.L1948L	ABCA12_ENST00000389661.4_Silent_p.L1630L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1948					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACTCGCAGAAGGAAATTAT	0.378																																					Ovarian(66;664 1488 5121 34295)												0								ENSG00000144452						187	167	174					2																	215831612		2203	4300	6503	ABCA12	SO:0001819	synonymous_variant	0			-	HGNC	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5844T>C	2.37:g.215831612A>G		Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	72	17.24	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1948	ENST00000272895.7	37	c.5844	CCDS33372.1	2																																																																																			-	NULL		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	protein_coding	OTTHUMT00000337111.1	A	NM_173076	-		215831612	-1	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	SNP	0.982	G	G	215831612	A	G	215831612	2	3	9	1	0	0	0	0	0	0	0	1	30	233	9	5		5	ABCA12	2	215831612	Silent	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	13492214	215831612	27367761	62	493											
RNF25	64320	genome.wustl.edu	37	chr2	219528857	219528857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccagctgccaggcccCttctcttgtggaggaccttc	10	17	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:219528857C>A	ENST00000295704.2	-	10	1643	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	401					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)		TGCCAGGCCCCTTCTCTTGTG	0.647																																																	0								ENSG00000163481						78	94	88					2																	219528857		2203	4300	6503	RNF25	SO:0001583	missense	0			-	HGNC		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.1203G>T	2.37:g.219528857C>A	ENSP00000295704:p.Lys401Asn	Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	75	10.59	A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP							pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING	p.K401N	ENST00000295704.2	37	c.1203	CCDS2420.1	2	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394556	0.42512	.	.	ENSG00000163481	ENST00000295704	T	0.56776	0.44	5.37	0.537	0.17144	.	0.366038	0.28853	N	0.013924	T	0.40372	0.1114	L	0.51422	1.61	0.31345	N	0.683153	B	0.14012	0.009	B	0.11329	0.006	T	0.35773	-0.9775	10	0.87932	D	0	-24.7064	4.6127	0.12411	0.143:0.5643:0.0:0.2926	.	401	Q96BH1	RNF25_HUMAN	N	401	ENSP00000295704:K401N	ENSP00000295704:K401N	K	-	3	2	RNF25	219237101	0.996000	0.38824	0.988000	0.46212	0.993000	0.82548	0.587000	0.23909	-0.082000	0.12640	0.655000	0.94253	AAG	-	NULL		0.647	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF25	protein_coding	OTTHUMT00000256721.1	C	NM_022453	-		219528857	-1	no_errors	ENST00000295704	ensembl	human	known	74_37	missense	SNP	0.998	A	A	219528857	C	A	219528857	3	1	9	1	0	0	0	0	1	0	0	0	13493	680	24	3	180	3	RNF25	2	219528857	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3697245	219528857	23670516	63	494											
CCDC108	255101	genome.wustl.edu	37	chr2	219890791	219890791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggtgctcaaagccagCgaaatagctgtggcctcgtg	14	9	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:219890791C>T	ENST00000341552.5	-	14	2385	c.2302G>A	c.(2302-2304)Gct>Act	p.A768T	CCDC108_ENST00000441968.1_Missense_Mutation_p.A768T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A768T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	768						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAAGCCAGCGAAATAGCTG	0.597																																																	0								ENSG00000181378						87	77	80					2																	219890791		2203	4300	6503	CCDC108	SO:0001583	missense	0			-	HGNC	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2302G>A	2.37:g.219890791C>T	ENSP00000340776:p.Ala768Thr	Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP							superfamily_PapD-like,pfscan_MSP_dom	p.A768T	ENST00000341552.5	37	c.2302	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878440	0.02550	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05382	3.45;3.45;3.45	4.87	-2.78	0.05859	.	1.174230	0.06381	N	0.715167	T	0.03739	0.0106	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.47142	-0.9140	10	0.15952	T	0.53	0.5713	5.2187	0.15356	0.0882:0.3841:0.3555:0.1722	.	768	Q6ZU64	CC108_HUMAN	T	768	ENSP00000340776:A768T;ENSP00000413377:A768T;ENSP00000409117:A768T	ENSP00000340776:A768T	A	-	1	0	CCDC108	219599035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.006000	0.03671	-1.284000	0.02390	-4.155000	0.00010	GCT	-	NULL		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	C	NM_194302	-		219890791	-1	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	SNP	0.000	T	T	219890791	C	T	219890791	3	4	9	1	0	0	0	0	1	0	0	0	2745	768	27	1	3563	1	CCDC108	2	219890791	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	361934	219890791	23308582	64	495											
SPHKAP	80309	genome.wustl.edu	37	chr2	228881380	228881380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttttagaatctaaagggCtgtggtttgtaagagaagca	11	4	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:228881380C>A	ENST00000392056.3	-	7	4236	c.4190G>T	c.(4189-4191)aGc>aTc	p.S1397I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1397I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1397						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)		ATCTAAAGGGCTGTGGTTTGT	0.463																																																	0								ENSG00000153820						90	96	94					2																	228881380		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.4190G>T	2.37:g.228881380C>A	ENSP00000375909:p.Ser1397Ile	Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.S1397I	ENST00000392056.3	37	c.4190	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023045	0.19433	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11930	2.73;2.73	5.78	-6.99	0.01605	.	1.572440	0.02708	N	0.112522	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21147	0.0;0.052;0.007	B;B;B	0.24394	0.001;0.053;0.004	T	0.31110	-0.9955	10	0.28530	T	0.3	.	3.4925	0.07642	0.1496:0.4135:0.1397:0.2971	.	428;1397;1397	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1397	ENSP00000375909:S1397I;ENSP00000339886:S1397I	ENSP00000339886:S1397I	S	-	2	0	SPHKAP	228589624	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.244000	0.08903	-0.702000	0.05056	-1.021000	0.02439	AGC	-	NULL		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	C	NM_030623	-		228881380	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.000	A	A	228881380	C	A	228881380	3	1	9	1	0	0	0	0	1	0	0	0	15055	797	28	3	936	3	SPHKAP	2	228881380	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	8990589	228881380	14317993	65	496											
UGT1A5	54579	genome.wustl.edu	37	chr2	234622355	234622356	+	Frame_Shift_Ins	INS	-	-	AG													ccttgcctctgagctttttcINSagagagaggtgtcagtggtg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:234622355_234622356insAG	ENST00000373414.3	+	1	718_719	c.718_719insAG	c.(718-720)cagfs	p.Q240fs	UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Frame_Shift_Ins_p.Q240fs|UGT1A10_ENST00000373445.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	240						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGAGCTTTTTCAGAGAGAGGTG	0.525																																																	0								ENSG00000240224																																			UGT1A5	SO:0001589	frameshift_variant	0				HGNC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.725_726dupAG	2.37:g.234622362_234622363dupAG	ENSP00000362513:p.Gln240fs	Somatic	0	77	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	73	9.88	B8K294	Frame_Shift_Ins	INS							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V243fs	ENST00000373414.3	37	c.718_719	CCDS33404.1	2																																																																																			-	pfam_UDP_glucos_trans		0.525	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	protein_coding	OTTHUMT00000130985.1	-	NM_019078			234622356	1	no_errors	ENST00000373414	ensembl	human	known	74_37	frame_shift_ins	INS	0.009:0.032	AG	AG	234622356	-	AG	234622355	7	5	9	1	0	1	1	0	0	0	0	0	16955	827	29	0	720	0	UGT1A5	2	234622355	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	5740975	234622355	8577018	66	497											
BRPF1	7862	genome.wustl.edu	37	chr3	9783085	9783085	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcgagctcggctgctcgtgGaattgatccgcaagcgggaa	15	10	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:9783085G>T	ENST00000457855.1	+	4	1827	c.1816G>T	c.(1816-1818)Gaa>Taa	p.E606*	BRPF1_ENST00000433861.2_Nonsense_Mutation_p.E606*|BRPF1_ENST00000424362.1_Nonsense_Mutation_p.E606*|BRPF1_ENST00000302054.3_Nonsense_Mutation_p.E606*|BRPF1_ENST00000383829.2_Nonsense_Mutation_p.E606*			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	606	Interaction with MEAF6 and ING5.|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)			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)					GCTGCTCGTGGAATTGATCCG	0.502																																																	0								ENSG00000156983						55	63	60					3																	9783085		2203	4300	6503	BRPF1	SO:0001587	stop_gained	0			-	HGNC	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.1816G>T	3.37:g.9783085G>T	ENSP00000410210:p.Glu606*	Somatic	0	51	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Nonsense_Mutation	SNP							pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.E606*	ENST00000457855.1	37	c.1816	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	44	10.657902	0.99445	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	.	.	.	5.72	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.789	0.69824	0.0689:0.0:0.9311:0.0	.	.	.	.	X	606	.	ENSP00000306297:E606X	E	+	1	0	BRPF1	9758085	1.000000	0.71417	0.870000	0.34147	0.995000	0.86356	9.869000	0.99810	1.422000	0.47177	0.655000	0.94253	GAA	-	superfamily_Bromodomain		0.502	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	protein_coding	OTTHUMT00000338485.1	G	NM_001003694	-		9783085	1	no_errors	ENST00000383829	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	9783085	G	T	9783085	4	4	9	1	0	0	0	0	0	1	0	0	1522	1175	41	3	1830	3	BRPF1	3	9783085	Nonsense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		9783085	188239345	67	498											
C3orf20	84077	genome.wustl.edu	37	chr3	14724444	14724444	+	Frame_Shift_Del	DEL	C	C	-													cctggaggtcagctttggagCccccctggtggtgctcatgg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:14724444delC	ENST00000253697.3	+	3	676	c.224delC	c.(223-225)gccfs	p.A75fs	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	75						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCTTTGGAGCCCCCCTGGTG	0.582																																																	0								ENSG00000131379						87	86	86					3																	14724444		2203	4300	6503	C3orf20	SO:0001589	frameshift_variant	0				HGNC	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.224delC	3.37:g.14724444delC	ENSP00000253697:p.Ala75fs	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Del	DEL							NULL	p.L77fs	ENST00000253697.3	37	c.224	CCDS33706.1	3																																																																																			-	NULL		0.582	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	protein_coding	OTTHUMT00000340586.1	C	NM_032137			14724444	1	no_errors	ENST00000253697	ensembl	human	known	74_37	frame_shift_del	DEL	0.006	-	-	14724444	C	-	14724444	7	5	9	1	0	1	0	1	0	0	0	0	2215	739	26	0	226	0	C3orf20	3	14724444	Frame_Shift_Del	DEL	C	TCGA-3B-A9HT-01A-11D-A38Z-09	4941359	14724444	183297986	68	499											
SCN11A	11280	genome.wustl.edu	37	chr3	38938441	38938441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattttcgatccattccccGcagaggatgcggaataccac	8	12	0	1	rs202104116		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:38938441G>A	ENST00000302328.3	-	14	2496	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000450244.1_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	766					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCATTCCCCGCAGAGGATGC	0.468																																																	0								ENSG00000168356	G		0,4406		0,0,2203	121	110	114		2298	-3.5	1	3		114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SCN11A	NM_014139.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		766/1792	38938441	2,13004	2203	4300	6503	SCN11A	SO:0001819	synonymous_variant	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2298C>T	3.37:g.38938441G>A		Somatic	0	26	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	27	43.75	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.C766	ENST00000302328.3	37	c.2298	CCDS33737.1	3																																																																																			-	pfam_Ion_trans_dom		0.468	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	G	NM_014139	rs202104116		38938441	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	SNP	0.942	A	A	38938441	G	A	38938441	2	1	9	1	0	0	0	0	0	0	0	1	13921	1079	38	1		1	SCN11A	3	38938441	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	24213997	38938441	159083989	69	500											
ZDHHC3	51304	genome.wustl.edu	37	chr3	44968199	44968199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaccacatactggtaCgggtctgccttcccttggtc	9	14	2	1	rs377350770		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:44968199C>T	ENST00000424952.2	-	7	1150	c.882G>A	c.(880-882)ccG>ccA	p.P294P	ZDHHC3_ENST00000342790.4_Silent_p.P328P|ZDHHC3_ENST00000296127.3_Silent_p.P322P	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	294					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATACTGGTACGGGTCTGCCT	0.532																																																	0								ENSG00000163812						91	78	82					3																	44968199		2203	4300	6503	ZDHHC3	SO:0001819	synonymous_variant	0			-	HGNC	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.882G>A	3.37:g.44968199C>T		Somatic	0	50	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	Q53A17|Q96BL0	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P322	ENST00000424952.2	37	c.966	CCDS46811.1	3																																																																																			-	NULL		0.532	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	protein_coding	OTTHUMT00000347004.1	C	NM_016598	-		44968199	-1	no_errors	ENST00000296127	ensembl	human	known	74_37	silent	SNP	0.998	T	T	44968199	C	T	44968199	2	4	9	1	0	0	0	0	0	0	0	1	17623	523	19	1		1	ZDHHC3	3	44968199	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6029758	44968199	153054231	70	501											
ALS2CL	259173	genome.wustl.edu	37	chr3	46727052	46727052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcaaagagcagcacaCgctcagcccgcaacggtgcg	10	15	3	1	rs142502930		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:46727052C>T	ENST00000318962.4	-	7	832	c.749G>A	c.(748-750)cGt>cAt	p.R250H	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R250H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	250					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGCAGCACACGCTCAGCCCG	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		19540	0		0	False		,,,				2504	0																0								ENSG00000178038	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	119	92	101		749,749	5.2	0.9	3	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CL	NM_001190707.1,NM_147129.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	250/954,250/954	46727052	1,13005	2203	4300	6503	ALS2CL	SO:0001583	missense	0			-	HGNC	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.749G>A	3.37:g.46727052C>T	ENSP00000313670:p.Arg250His	Somatic	0	19	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP							pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.R250H	ENST00000318962.4	37	c.749	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617984	0.66787	0.0	1.16E-4	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.57107	0.42;0.42	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000009	T	0.70996	0.3288	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71182	-0.4668	10	0.46703	T	0.11	.	14.0475	0.64714	0.0:1.0:0.0:0.0	.	250	Q60I27	AL2CL_HUMAN	H	250	ENSP00000313670:R250H;ENSP00000413223:R250H	ENSP00000313670:R250H	R	-	2	0	ALS2CL	46702056	0.983000	0.35010	0.947000	0.38551	0.581000	0.36288	2.773000	0.47686	2.700000	0.92200	0.563000	0.77884	CGT	-	NULL		0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	protein_coding	OTTHUMT00000250567.3	C	NM_147129	-		46727052	-1	no_errors	ENST00000318962	ensembl	human	known	74_37	missense	SNP	0.970	T	T	46727052	C	T	46727052	3	4	9	1	0	0	0	0	1	0	0	0	551	536	19	1	2192	1	ALS2CL	3	46727052	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1758853	46727052	151295378	71	502											
CSPG5	10675	genome.wustl.edu	37	chr3	47618363	47618363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccaggtagcactggcCgccattgtgacagtaacttg	10	13	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:47618363C>T	ENST00000383738.2	-	2	3251	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	CSPG5_ENST00000456150.1_Missense_Mutation_p.G247S|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.G385S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	385	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGCACTGGCCGCCATTGTGA	0.572																																																	0								ENSG00000114646						178	187	184					3																	47618363		2203	4300	6503	CSPG5	SO:0001583	missense	0			-	HGNC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1153G>A	3.37:g.47618363C>T	ENSP00000373244:p.Gly385Ser	Somatic	0	27	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	Q71M39|Q71M40	Missense_Mutation	SNP							pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.G385S	ENST00000383738.2	37	c.1153	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.729549	0.96856	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.75938	-0.29;-0.98;-0.79	4.63	4.63	0.57726	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.77616	2.38	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87739	0.2584	10	0.87932	D	0	-21.2783	15.0117	0.71555	0.0:1.0:0.0:0.0	.	385;385	O95196;O95196-2	CSPG5_HUMAN;.	S	247;385;385	ENSP00000392096:G247S;ENSP00000373244:G385S;ENSP00000264723:G385S	ENSP00000264723:G385S	G	-	1	0	CSPG5	47593367	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.018000	0.76406	2.385000	0.81259	0.655000	0.94253	GGC	-	NULL		0.572	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	protein_coding	OTTHUMT00000257489.1	C	NM_006574	-		47618363	-1	no_errors	ENST00000383738	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47618363	C	T	47618363	3	4	9	1	0	0	0	0	1	0	0	0	3963	652	23	1	482	1	CSPG5	3	47618363	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	891311	47618363	150404067	72	503											
COL7A1	1294	genome.wustl.edu	37	chr3	48626118	48626118	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtgccctcgcggtccccGacaagtgcagtcactcgcac	12	16	1	0	rs139545952	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:48626118G>A	ENST00000328333.8	-	19	2651	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V	COL7A1_ENST00000454817.1_Silent_p.V848V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	848	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				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)		CGCGGTCCCCGACAAGTGCAG	0.592													G|||	2	0.000399361	0	0.0014	5008	,	,		19537	0		0.001	False		,,,				2504	0																0								ENSG00000114270	G		2,4404	4.2+/-10.8	0,2,2201	73	70	71		2544	-10.8	0	3	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	COL7A1	NM_000094.3		0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384		848/2945	48626118	5,13001	2203	4300	6503	COL7A1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.2544C>T	3.37:g.48626118G>A		Somatic	0	26	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q14054|Q16507	Silent	SNP							pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.V848	ENST00000328333.8	37	c.2544	CCDS2773.1	3																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	G	NM_000094	rs139545952		48626118	-1	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	SNP	0.001	A	A	48626118	G	A	48626118	2	1	9	1	0	0	0	0	0	0	0	1	3706	1045	37	1		1	COL7A1	3	48626118	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1007755	48626118	149396312	73	504											
MST1R	4486	genome.wustl.edu	37	chr3	49928639	49928639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactctcacatgcagttcCgcgcagccaggtccctgtgc	11	15	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:49928639C>T	ENST00000296474.3	-	17	3662	c.3635G>A	c.(3634-3636)cGg>cAg	p.R1212Q	MST1R_ENST00000344206.4_Missense_Mutation_p.R1163Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CATGCAGTTCCGCGCAGCCAG	0.612																																																	0								ENSG00000164078						66	58	61					3																	49928639		2203	4300	6503	MST1R	SO:0001583	missense	0			-	HGNC	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.3635G>A	3.37:g.49928639C>T	ENSP00000296474:p.Arg1212Gln	Somatic	0	11	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP							pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.R1212Q	ENST00000296474.3	37	c.3635	CCDS2807.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.628532|5.628532	0.96671|0.96671	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000434765;ENST00000440292|ENST00000296474;ENST00000344206	.|D;D	.|0.87334	.|-2.24;-2.24	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94149|0.94149	0.8123|0.8123	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94705|0.94705	0.7887|0.7887	5|10	.|0.87932	.|D	.|0	-25.672|-25.672	19.1005|19.1005	0.93272|0.93272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1212	.|Q04912	.|RON_HUMAN	R|Q	190;233|1212;1163	.|ENSP00000296474:R1212Q;ENSP00000341325:R1163Q	.|ENSP00000296474:R1212Q	G|R	-|-	1|2	0|0	MST1R|MST1R	49903643|49903643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	7.728000|7.728000	0.84847|0.84847	2.508000|2.508000	0.84585|0.84585	0.643000|0.643000	0.83706|0.83706	GGA|CGG	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	C		-		49928639	-1	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49928639	C	T	49928639	3	4	9	1	0	0	0	0	1	0	0	0	9893	652	23	1	583	1	MST1R	3	49928639	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1302521	49928639	148093791	74	505											
PBRM1	55193	genome.wustl.edu	37	chr3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-													agcctttttcatataaaataTttttttaattgaatttgcat					rs369874660		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:52678784delT	ENST00000296302.7	-	8	836	c.835delA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)						ENSG00000163939						41	41	41					3																	52678784		2200	4299	6499	PBRM1	SO:0001589	frameshift_variant	0				HGNC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.835delA	3.37:g.52678784delT	ENSP00000296302:p.Ile279fs	Somatic	0	162	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	142	16.47	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL							pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.I279fs	ENST00000296302.7	37	c.835		3																																																																																			-	superfamily_Bromodomain,smart_Bromodomain		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	T	NM_018165			52678784	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52678784	T	-	52678784	7	5	9	1	0	1	0	1	0	0	0	0	11493	1493	52	0	4157	0	PBRM1	3	52678784	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	2750145	52678784	145343646	75	506											
FAM116A	201627	genome.wustl.edu	37	chr3	57619022	57619023	+	Frame_Shift_Ins	INS	-	-	A													tgaaactttgtgtcagttccINSaaaaaatagcgtcgaagaat							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:57619022_57619023insA	ENST00000311128.5	-	15	1392_1393	c.1322_1323insT	c.(1321-1323)ttgfs	p.L441fs	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	441					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L441fs*3(1)									GTGTCAGTTCCAAAAAATAGCG	0.332																																																	1	Deletion - Frameshift(1)	large_intestine(1)						ENSG00000174839																																			DENND6A	SO:0001589	frameshift_variant	0				HGNC	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1323dupT	3.37:g.57619028_57619028dupA	ENSP00000311401:p.Leu441fs	Somatic	0	142	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	99	10.81	Q7Z5T4|Q8N235|Q8TEG8	Frame_Shift_Ins	INS							pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	p.L441fs	ENST00000311128.5	37	c.1323_1322	CCDS33773.1	3																																																																																			-	pfam_Afi1_N		0.332	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	protein_coding	OTTHUMT00000351594.1	-	NM_152678			57619023	-1	no_errors	ENST00000311128	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	57619023	-	A	57619022	7	5	9	1	0	1	1	0	0	0	0	0	5409	593	21	0	527	0	FAM116A	3	57619022	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	4940238	57619022	140403408	76	507											
EPHA3	2042	genome.wustl.edu	37	chr3	89391179	89391179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatgccgttaatggggtGtcagagctgagctccccacc	12	11	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:89391179G>A	ENST00000336596.2	+	5	1470	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	EPHA3_ENST00000452448.2_Silent_p.V415V|EPHA3_ENST00000494014.1_Silent_p.V415V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	415	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TTAATGGGGTGTCAGAGCTGA	0.483										TSP Lung(6;0.00050)																																							0								ENSG00000044524						81	66	71					3																	89391179		2203	4300	6503	EPHA3	SO:0001819	synonymous_variant	0			-	HGNC	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.1245G>A	3.37:g.89391179G>A		Somatic	0	24	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q9H2V3|Q9H2V4	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V415	ENST00000336596.2	37	c.1245	CCDS2922.1	3																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	G	NM_005233	-		89391179	1	no_errors	ENST00000336596	ensembl	human	known	74_37	silent	SNP	0.994	A	A	89391179	G	A	89391179	2	1	9	1	0	0	0	0	0	0	0	1	5170	1364	48	2		2	EPHA3	3	89391179	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	31772157	89391179	108631251	77	508											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119134704	119134704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtagtgcaatgcagaaagCgcatgtcagagacagagcca	12	9	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:119134704C>T	ENST00000264245.4	+	12	4460	c.3928C>T	c.(3928-3930)Cgc>Tgc	p.R1310C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1310					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGCAGAAAGCGCATGTCAGA	0.547																																					Pancreas(7;176 297 5394 51128 51241)												0								ENSG00000031081						91	96	95					3																	119134704		1964	4177	6141	ARHGAP31	SO:0001583	missense	0			-	HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3928C>T	3.37:g.119134704C>T	ENSP00000264245:p.Arg1310Cys	Somatic	0	18	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	Q9ULL6	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R1310C	ENST00000264245.4	37	c.3928	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742665	0.49151	.	.	ENSG00000031081	ENST00000264245	T	0.54866	0.55	5.87	5.0	0.66597	.	0.000000	0.64402	D	0.000008	T	0.40570	0.1122	L	0.34521	1.04	0.80722	D	1	B	0.33135	0.399	B	0.23275	0.045	T	0.42447	-0.9451	10	0.87932	D	0	.	14.2167	0.65797	0.0:0.9289:0.0:0.0711	.	1310	Q2M1Z3	RHG31_HUMAN	C	1310	ENSP00000264245:R1310C	ENSP00000264245:R1310C	R	+	1	0	ARHGAP31	120617394	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.775000	0.55349	1.631000	0.50456	0.655000	0.94253	CGC	-	NULL		0.547	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	C		-		119134704	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119134704	C	T	119134704	3	4	9	1	0	0	0	0	1	0	0	0	880	768	27	1	3974	1	ARHGAP31	3	119134704	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	29743525	119134704	78887726	78	509											
RHO	6010	genome.wustl.edu	37	chr3	129249825	129249825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaccatgccatcatgggCgttgccttcacctgggtcat	11	12	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:129249825C>T	ENST00000296271.3	+	2	562	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	156					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCATGGGCGTTGCCTTCA	0.642																																					Esophageal Squamous(118;214 1623 30842 43234 46940)												0								ENSG00000163914						164	129	141					3																	129249825		2203	4300	6503	RHO	SO:0001819	synonymous_variant	0			-	HGNC	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.468C>T	3.37:g.129249825C>T		Somatic	0	34	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	Q16414|Q2M249	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin	p.G156	ENST00000296271.3	37	c.468	CCDS3063.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	protein_coding	OTTHUMT00000356101.1	C	NM_000539	-		129249825	1	no_errors	ENST00000296271	ensembl	human	known	74_37	silent	SNP	0.791	T	T	129249825	C	T	129249825	2	4	9	1	0	0	0	0	0	0	0	1	13338	755	27	1		1	RHO	3	129249825	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	10115121	129249825	68772605	79	510											
TMEM108	66000	genome.wustl.edu	37	chr3	133099024	133099024	+	Frame_Shift_Del	DEL	C	C	-													ccagccgccccaccacagcgCccccccgcactaccacacgc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:133099024delC	ENST00000321871.6	+	4	679	c.469delC	c.(469-471)cccfs	p.P158fs	TMEM108_ENST00000515826.1_Frame_Shift_Del_p.P158fs|TMEM108_ENST00000393130.3_Frame_Shift_Del_p.P158fs|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	158	Pro-rich.					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						CACCACAGCGCCCCCCCGCAC	0.701																																																	0								ENSG00000144868		,	31,4189		1,29,2080	11	15	14		,	-8.2	0	3		14	60,8126		4,52,4037	no	frameshift,frameshift	TMEM108	NM_023943.2,NM_001136469.1	,	5,81,6117	A1A1,A1R,RR		0.733,0.7346,0.7335	,	,	133099024	91,12315	2193	4283	6476	TMEM108	SO:0001589	frameshift_variant	0				HGNC	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.469delC	3.37:g.133099024delC	ENSP00000324651:p.Pro158fs	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Frame_Shift_Del	DEL							NULL	p.R159fs	ENST00000321871.6	37	c.469	CCDS33858.1	3																																																																																			-	NULL		0.701	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	C	NM_023943			133099024	1	no_errors	ENST00000321871	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	133099024	C	-	133099024	7	5	9	1	0	1	0	1	0	0	0	0	16031	739	26	0	475	0	TMEM108	3	133099024	Frame_Shift_Del	DEL	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3849199	133099024	64923406	80	511											
MSL2	55167	genome.wustl.edu	37	chr3	135870189	135870189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctggcacggcaaatgCctccagcttcttctccccat	6	16	3	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:135870189C>T	ENST00000309993.2	-	2	2266	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	MSL2_ENST00000434835.2_Missense_Mutation_p.A438T	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	512					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						ACGGCAAATGCCTCCAGCTTC	0.522																																																	0								ENSG00000174579						65	56	59					3																	135870189		2203	4300	6503	MSL2	SO:0001583	missense	0			-	HGNC	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1534G>A	3.37:g.135870189C>T	ENSP00000311827:p.Ala512Thr	Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP							pfscan_Znf_RING	p.A512T	ENST00000309993.2	37	c.1534	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231931	0.79688	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	M	0.68317	2.08	0.80722	D	1	D	0.63046	0.992	P	0.57620	0.824	T	0.70626	-0.4820	9	0.33141	T	0.24	-6.3174	19.3033	0.94151	0.0:1.0:0.0:0.0	.	512	Q9HCI7	MSL2_HUMAN	T	512;438	.	ENSP00000311827:A512T	A	-	1	0	MSL2	137352879	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.816000	0.86201	2.809000	0.96659	0.467000	0.42956	GCA	-	NULL		0.522	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	protein_coding	OTTHUMT00000357347.1	C	NM_018133	-		135870189	-1	no_errors	ENST00000309993	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135870189	C	T	135870189	3	4	9	1	0	0	0	0	1	0	0	0	9880	739	26	2	203	2	MSL2	3	135870189	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2771165	135870189	62152241	81	512											
SLC9A9	285195	genome.wustl.edu	37	chr3	143185954	143185954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaacacgaggagcagcGtagtggtaaacatcatttgt	12	6	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:143185954G>A	ENST00000316549.6	-	12	1602	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	465					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GAGGAGCAGCGTAGTGGTAAA	0.488																																																	0								ENSG00000181804						160	132	142					3																	143185954		2203	4300	6503	SLC9A9	SO:0001583	missense	0			-	HGNC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1394C>T	3.37:g.143185954G>A	ENSP00000320246:p.Thr465Met	Somatic	0	61	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	43	38.57	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP							pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T465M	ENST00000316549.6	37	c.1394	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719191	0.89205	.	.	ENSG00000181804	ENST00000316549	T	0.16897	2.31	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.071648	0.64402	D	0.000020	T	0.51109	0.1655	M	0.88704	2.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.58364	-0.7649	10	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	465	Q8IVB4	SL9A9_HUMAN	M	465	ENSP00000320246:T465M	ENSP00000320246:T465M	T	-	2	0	SLC9A9	144668644	1.000000	0.71417	0.952000	0.39060	0.844000	0.47949	9.441000	0.97557	2.709000	0.92574	0.655000	0.94253	ACG	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.488	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	protein_coding	OTTHUMT00000354994.1	G	NM_173653	-		143185954	-1	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	SNP	1.000	A	A	143185954	G	A	143185954	3	1	9	1	0	0	0	0	1	0	0	0	14729	1145	40	1	563	1	SLC9A9	3	143185954	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7315765	143185954	54836476	82	513											
PHC3	80012	genome.wustl.edu	37	chr3	169863250	169863250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagatgacgatgacgaCgagacaacaggaatgtcaga	13	7	1	5			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:169863250C>T	ENST00000494943.1	-	6	665	c.597G>A	c.(595-597)tcG>tcA	p.S199S	PHC3_ENST00000467570.1_Silent_p.S158S|PHC3_ENST00000495893.2_Silent_p.S211S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	199	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ACGATGACGACGAGACAACAG	0.438																																																	0								ENSG00000173889						101	105	104					3																	169863250		2038	4200	6238	PHC3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.597G>A	3.37:g.169863250C>T		Somatic	0	54	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.S211	ENST00000494943.1	37	c.633		3																																																																																			-	NULL		0.438	PHC3-004	KNOWN	basic	protein_coding	PHC3	protein_coding	OTTHUMT00000352182.3	C	NM_024947	-		169863250	-1	no_errors	ENST00000495893	ensembl	human	known	74_37	silent	SNP	1.000	T	T	169863250	C	T	169863250	2	4	9	1	0	0	0	0	0	0	0	1	11820	523	19	1		1	PHC3	3	169863250	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	26677296	169863250	28159180	83	514											
ST6GAL1	6480	genome.wustl.edu	37	chr3	186760953	186760953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgtatccatggtagaGgtcacagattttcccttcaa	9	8	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:186760953G>A	ENST00000169298.3	+	4	1136	c.462G>A	c.(460-462)gaG>gaA	p.E154E	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.E154E	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	154					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCATGGTAGAGGTCACAGATT	0.547																																																	0								ENSG00000073849						88	86	86					3																	186760953		2203	4300	6503	ST6GAL1	SO:0001819	synonymous_variant	0			-	HGNC	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.462G>A	3.37:g.186760953G>A		Somatic	0	24	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	A8KA14|B2R513|D3DNV3	Silent	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E154	ENST00000169298.3	37	c.462	CCDS3285.1	3																																																																																			-	pirsf_Sialyl_trans		0.547	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	protein_coding	OTTHUMT00000344399.1	G	NM_173216	-		186760953	1	no_errors	ENST00000169298	ensembl	human	known	74_37	silent	SNP	0.992	A	A	186760953	G	A	186760953	2	1	9	1	0	0	0	0	0	0	0	1	15228	991	35	2		2	ST6GAL1	3	186760953	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	16897703	186760953	11261477	84	515											
ATP8A1	10396	genome.wustl.edu	37	chr4	42627651	42627652	+	Frame_Shift_Ins	INS	-	-	A													tgcagcagtgcaataaagagINSaaaaaatgaattagcagctc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:42627651_42627652insA	ENST00000381668.5	-	3	474_475	c.243_244insT	c.(241-246)tttctcfs	p.L82fs	ATP8A1_ENST00000510289.1_3'UTR|ATP8A1_ENST00000264449.10_Frame_Shift_Ins_p.L82fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	82					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCAATAAAGAGAAAAAATGAAT	0.361																																																	0								ENSG00000124406																																			ATP8A1	SO:0001589	frameshift_variant	0				HGNC	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.244dupT	4.37:g.42627657_42627657dupA	ENSP00000371084:p.Leu82fs	Somatic	0	114	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	111	11.20	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Frame_Shift_Ins	INS							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L81fs	ENST00000381668.5	37	c.244_243	CCDS3466.1	4																																																																																			-	tigrfam_ATPase_P-typ_Plipid-transp		0.361	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	protein_coding	OTTHUMT00000216861.2	-	NM_006095			42627652	-1	no_errors	ENST00000381668	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	42627652	-	A	42627651	7	5	9	1	0	1	1	0	0	0	0	0	1192	942	33	0	3468	0	ATP8A1	4	42627651	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09		42627651	148526625	85	516											
UBA6	55236	genome.wustl.edu	37	chr4	68536256	68536256	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctaaaacttcaaattcatCaccgaaatcacaaaataacc	1	11	5	0	rs373643001		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:68536256C>T	ENST00000322244.5	-	8	660	c.601G>A	c.(601-603)Gat>Aat	p.D201N	UBA6_ENST00000420827.2_Missense_Mutation_p.D201N	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	201					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCAAATTCATCACCGAAATCA	0.264																																																	0								ENSG00000033178	C	ASN/ASP	0,4404		0,0,2202	91	94	93		601	5.2	1	4		93	1,8587	1.2+/-3.3	0,1,4293	no	missense	UBA6	NM_018227.5	23	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	201/1053	68536256	1,12991	2202	4294	6496	UBA6	SO:0001583	missense	0			-	HGNC	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.601G>A	4.37:g.68536256C>T	ENSP00000313454:p.Asp201Asn	Somatic	0	77	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	60	30.23	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP							pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.D201N	ENST00000322244.5	37	c.601	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086395	0.55861	0.0	1.16E-4	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.28895	1.59;1.59	5.16	5.16	0.70880	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.170278	0.53938	D	0.000045	T	0.25717	0.0626	L	0.39633	1.23	0.53005	D	0.999965	B;B;B	0.16603	0.003;0.013;0.018	B;B;B	0.18871	0.023;0.022;0.014	T	0.03423	-1.1038	10	0.33141	T	0.24	-17.102	12.0454	0.53477	0.0:0.9195:0.0:0.0805	.	201;201;201	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	N	201	ENSP00000313454:D201N;ENSP00000399234:D201N	ENSP00000313454:D201N	D	-	1	0	UBA6	68218851	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.228000	0.65310	2.562000	0.86427	0.484000	0.47621	GAT	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1		0.264	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	protein_coding	OTTHUMT00000251429.2	C	NM_018227	-		68536256	-1	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68536256	C	T	68536256	3	4	9	1	0	0	0	0	1	0	0	0	16839	826	29	2	2661	2	UBA6	4	68536256	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	25908605	68536256	122618020	86	517											
SMR3A	26952	genome.wustl.edu	37	chr4	71232706	71232706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctccctactcctgcaCcctaaatacagacaactgca	4	18	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:71232706C>T	ENST00000226460.4	+	3	496	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	134	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TACTCCTGCACCCTAAATACA	0.473																																																	0								ENSG00000109208						74	71	72					4																	71232706		2203	4300	6503	SMR3A	SO:0001583	missense	0			-	HGNC	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"proline rich 5 (salivary)", "submaxillary gland androgen regulated protein 3 homolog A (mouse)"	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.400C>T	4.37:g.71232706C>T	ENSP00000226460:p.Pro134Ser	Somatic	0	23	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27		Missense_Mutation	SNP							NULL	p.P134S	ENST00000226460.4	37	c.400	CCDS34000.1	4	.	.	.	.	.	.	.	.	.	.	C	4.814	0.151279	0.09185	.	.	ENSG00000109208	ENST00000226460	T	0.27557	1.66	3.34	0.577	0.17385	.	.	.	.	.	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	P	0.35242	0.492	B	0.35413	0.202	T	0.17961	-1.0352	9	0.87932	D	0	.	3.1158	0.06373	0.2081:0.5534:0.0:0.2384	.	134	Q99954	SMR3A_HUMAN	S	134	ENSP00000226460:P134S	ENSP00000226460:P134S	P	+	1	0	SMR3A	71267295	0.005000	0.15991	0.009000	0.14445	0.098000	0.18820	0.214000	0.17541	0.074000	0.16767	-0.291000	0.09656	CCC	-	NULL		0.473	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	protein_coding	OTTHUMT00000362574.1	C	NM_012390	-		71232706	1	no_errors	ENST00000226460	ensembl	human	known	74_37	missense	SNP	0.010	T	T	71232706	C	T	71232706	3	4	9	1	0	0	0	0	1	0	0	0	14819	507	18	2	406	2	SMR3A	4	71232706	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2696450	71232706	119921570	87	518											
ANKRD56	345079	genome.wustl.edu	37	chr4	77817627	77817627	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtgaccatcccctctgtttCtgagaccctgagggctccgg	11	14	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:77817627C>G	ENST00000334306.2	-	1	1375	c.1376G>C	c.(1375-1377)aGa>aCa	p.R459T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	459																	CCCTCTGTTTCTGAGACCCTG	0.602																																																	0								ENSG00000186212						62	73	69					4																	77817627		2203	4299	6502	SOWAHB	SO:0001583	missense	0			-	HGNC		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1376G>C	4.37:g.77817627C>G	ENSP00000334879:p.Arg459Thr	Somatic	0	60	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	65	17.72	B2RP29	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R459T	ENST00000334306.2	37	c.1376	CCDS34017.1	4	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937207	0.18206	.	.	ENSG00000186212	ENST00000334306	T	0.04862	3.54	4.82	2.92	0.33932	.	1.979650	0.02883	U	0.133147	T	0.05593	0.0147	L	0.27053	0.805	0.09310	N	1	P	0.43477	0.808	B	0.39027	0.288	T	0.29549	-1.0008	10	0.11182	T	0.66	-0.1347	7.6842	0.28530	0.1718:0.735:0.0:0.0932	.	459	A6NEL2	ANR56_HUMAN	T	459	ENSP00000334879:R459T	ENSP00000334879:R459T	R	-	2	0	ANKRD56	78036651	0.000000	0.05858	0.023000	0.16930	0.006000	0.05464	0.974000	0.29436	1.246000	0.43901	0.650000	0.86243	AGA	-	NULL		0.602	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHB	protein_coding	OTTHUMT00000362762.1	C	NM_001029870	-		77817627	-1	no_errors	ENST00000334306	ensembl	human	known	74_37	missense	SNP	0.001	G	G	77817627	C	G	77817627	3	3	9	1	0	0	0	0	1	0	0	0	682	913	32	4	1009	4	ANKRD56	4	77817627	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6584921	77817627	113336649	88	519											
BDH2	56898	genome.wustl.edu	37	chr4	104012389	104012389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgcacattgagattcatcGagaagtcccagtctttctcc	8	12	3	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:104012389G>A	ENST00000296424.4	-	5	422	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	101					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GAGATTCATCGAGAAGTCCCA	0.428																																																	0								ENSG00000164039						134	115	121					4																	104012389		2203	4300	6503	BDH2	SO:0001583	missense	0			-	HGNC	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.302C>T	4.37:g.104012389G>A	ENSP00000296424:p.Ser101Leu	Somatic	0	30	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.S101L	ENST00000296424.4	37	c.302	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754244	0.89843	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;D;D	0.86694	2.09;-2.16;-2.16	4.8	3.89	0.44902	NAD(P)-binding domain (1);	0.222920	0.44688	D	0.000427	T	0.79155	0.4398	N	0.04148	-0.265	0.43994	D	0.996693	D	0.56746	0.977	P	0.50162	0.633	D	0.84113	0.0402	10	0.72032	D	0.01	.	13.7076	0.62648	0.0:0.1557:0.8443:0.0	.	101	Q9BUT1	BDH2_HUMAN	L	101	ENSP00000296424:S101L;ENSP00000427442:S101L;ENSP00000422891:S101L	ENSP00000296424:S101L	S	-	2	0	BDH2	104231838	1.000000	0.71417	0.935000	0.37517	0.972000	0.66771	5.756000	0.68757	2.355000	0.79922	0.591000	0.81541	TCG	-	pfam_DH_sc/Rdtase_SDR,prints_DHB_DH		0.428	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	protein_coding	OTTHUMT00000157159.2	G	NM_020139	-		104012389	-1	no_errors	ENST00000296424	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104012389	G	A	104012389	3	1	9	1	0	0	0	0	1	0	0	0	1391	1059	37	1	459	1	BDH2	4	104012389	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	26194762	104012389	87141887	89	520											
SPRY1	10252	genome.wustl.edu	37	chr4	124322769	124322769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatccccaaaatcaacatgGcagtggcagttcgttagttg	11	9	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:124322769G>T	ENST00000394339.2	+	2	363	c.23G>T	c.(22-24)gGc>gTc	p.G8V	SPRY1_ENST00000339241.1_Missense_Mutation_p.G8V	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	8					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AATCAACATGGCAGTGGCAGT	0.433																																																	0								ENSG00000164056						165	173	170					4																	124322769		2203	4300	6503	SPRY1	SO:0001583	missense	0			-	HGNC	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.23G>T	4.37:g.124322769G>T	ENSP00000377871:p.Gly8Val	Somatic	0	35	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	D3DNX6|Q6PNE0	Missense_Mutation	SNP							pfam_Sprouty	p.G8V	ENST00000394339.2	37	c.23	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583341	0.46006	.	.	ENSG00000164056	ENST00000505319;ENST00000339241;ENST00000507703;ENST00000394339;ENST00000508849	T;T;T	0.56776	0.44;1.37;0.44	4.78	3.93	0.45458	.	0.128858	0.51477	D	0.000089	T	0.64148	0.2572	M	0.74258	2.255	0.80722	D	1	D	0.54601	0.967	P	0.55260	0.772	T	0.64824	-0.6316	10	0.34782	T	0.22	-13.4299	13.1374	0.59417	0.0787:0.0:0.9213:0.0	.	8	O43609	SPY1_HUMAN	V	8	ENSP00000343785:G8V;ENSP00000421036:G8V;ENSP00000377871:G8V	ENSP00000343785:G8V	G	+	2	0	SPRY1	124542219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.289000	0.51747	1.209000	0.43321	0.561000	0.74099	GGC	-	NULL		0.433	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	protein_coding	OTTHUMT00000256711.1	G		-		124322769	1	no_errors	ENST00000339241	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124322769	G	T	124322769	3	4	9	1	0	0	0	0	1	0	0	0	15112	1203	42	3	25	3	SPRY1	4	124322769	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	20310380	124322769	66831507	90	521											
PCDH18	54510	genome.wustl.edu	37	chr4	138452382	138452382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataattttgggagacacatgActgctgaaggaatatacaat	9	5	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:138452382A>G	ENST00000344876.4	-	1	1247	c.861T>C	c.(859-861)agT>agC	p.S287S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.S67S|PCDH18_ENST00000412923.2_Silent_p.S287S|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAGACACATGACTGCTGAAGG	0.398																																																	0								ENSG00000189184						43	46	45					4																	138452382		2201	4300	6501	PCDH18	SO:0001819	synonymous_variant	0			-	HGNC	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.861T>C	4.37:g.138452382A>G		Somatic	0	36	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S287	ENST00000344876.4	37	c.861	CCDS34064.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	protein_coding	OTTHUMT00000364614.1	A	NM_019035	-		138452382	-1	no_errors	ENST00000344876	ensembl	human	known	74_37	silent	SNP	0.954	G	G	138452382	A	G	138452382	2	3	9	1	0	0	0	0	0	0	0	1	11515	272	10	5		5	PCDH18	4	138452382	Silent	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	14129613	138452382	52701894	91	522											
ING2	3622	genome.wustl.edu	37	chr4	184432081	184432081	+	Frame_Shift_Del	DEL	A	A	-													gacaaaagtactgaaaagacAaaaaaggatagaagatcgag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:184432081delA	ENST00000302327.3	+	2	1021	c.819delA	c.(817-819)acafs	p.T273fs	ING2_ENST00000434682.2_Frame_Shift_Del_p.T233fs	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	273	PBR.				chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTGAAAAGACAAAAAAGGATA	0.343																																																	0								ENSG00000168556						62	59	60					4																	184432081		2203	4300	6503	ING2	SO:0001589	frameshift_variant	0				HGNC	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.819delA	4.37:g.184432081delA	ENSP00000307183:p.Thr273fs	Somatic	0	71	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	61	22.78	B6ZDS1|O95698	Frame_Shift_Del	DEL							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K275fs	ENST00000302327.3	37	c.819	CCDS3833.1	4																																																																																			-	NULL		0.343	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING2	protein_coding	OTTHUMT00000318652.1	A	NM_001564			184432081	1	no_errors	ENST00000302327	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	184432081	A	-	184432081	7	5	9	1	0	1	0	1	0	0	0	0	7738	117	5	0	825	0	ING2	4	184432081	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	45979699	184432081	6722195	92	523											
FAT1	2195	genome.wustl.edu	37	chr4	187540247	187540247	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcagctagttccactTcatattcgttctgaaggaaa	7	9	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:187540247T>A	ENST00000441802.2	-	10	7702	c.7493A>T	c.(7492-7494)gAa>gTa	p.E2498V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2498	Cadherin 23. {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						TAGTTCCACTTCATATTCGTT	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						240	228	232					4																	187540247		1904	4119	6023	FAT1	SO:0001583	missense	0			-	HGNC	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.7493A>T	4.37:g.187540247T>A	ENSP00000406229:p.Glu2498Val	Somatic	0	26	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E2498V	ENST00000441802.2	37	c.7493	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	T	5.119	0.207489	0.09704	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01647	4.71	5.09	5.09	0.68999	Cadherin (3);Cadherin-like (1);	0.104675	0.64402	D	0.000005	T	0.02610	0.0079	L	0.45470	1.425	0.58432	D	0.99999	B	0.19200	0.034	B	0.22152	0.038	T	0.55198	-0.8178	10	0.19147	T	0.46	.	15.3314	0.74215	0.0:0.0:0.0:1.0	.	2498	Q14517	FAT1_HUMAN	V	2498;2500	ENSP00000406229:E2498V	ENSP00000260147:E2500V	E	-	2	0	FAT1	187777241	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	6.267000	0.72546	2.267000	0.75376	0.528000	0.53228	GAA	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	T	NM_005245	-		187540247	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	A	A	187540247	T	A	187540247	3	1	9	1	0	0	0	0	1	0	0	0	5691	1783	62	5	6345	5	FAT1	4	187540247	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	3108166	187540247	3614029	93	524											
CEP72	55722	genome.wustl.edu	37	chr5	639252	639252	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaagaagacggccctgCaggcggcgctcctggagacg	17	13	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:639252C>T	ENST00000264935.5	+	8	1345	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	419					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACGGCCCTGCAGGCGGCGCT	0.637																																																	0								ENSG00000112877						35	41	39					5																	639252		2203	4300	6503	CEP72	SO:0001587	stop_gained	0			-	HGNC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1255C>T	5.37:g.639252C>T	ENSP00000264935:p.Gln419*	Somatic	0	35	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Nonsense_Mutation	SNP							smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.Q419*	ENST00000264935.5	37	c.1255	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431496	0.83776	.	.	ENSG00000112877	ENST00000264935	.	.	.	4.45	1.44	0.22558	.	0.547916	0.17042	N	0.189279	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.9108	12.4662	0.55759	0.0:0.5266:0.4734:0.0	.	.	.	.	X	419	.	ENSP00000264935:Q419X	Q	+	1	0	CEP72	692252	0.024000	0.19004	0.088000	0.20740	0.009000	0.06853	1.038000	0.30254	0.142000	0.18901	-0.502000	0.04539	CAG	-	NULL		0.637	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	protein_coding	OTTHUMT00000365967.3	C	NM_018140	-		639252	1	no_errors	ENST00000264935	ensembl	human	known	74_37	nonsense	SNP	0.099	T	T	639252	C	T	639252	4	4	9	1	0	0	0	0	0	1	0	0	3262	711	25	2	1285	2	CEP72	5	639252	Nonsense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		639252	180276008	94	525											
FAM105B	90268	genome.wustl.edu	37	chr5	14692978	14692978	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaggttgaaatgttccttCttgcctatgctgtgcgccac	9	13	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:14692978C>T	ENST00000284274.4	+	7	958	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		294	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AATGTTCCTTCTTGCCTATGC	0.502																																																	0								ENSG00000154124						147	148	148					5																	14692978		2022	4185	6207	FAM105B	SO:0001583	missense	0			-	HGNC																												ENST00000284274.4:c.880C>T	5.37:g.14692978C>T	ENSP00000284274:p.Leu294Phe	Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP							prints_FAM105,prints_FAM105B,prints_FAM105A	p.L294F	ENST00000284274.4	37	c.880	CCDS43302.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.071286|5.071286	0.93950|0.93950	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.20069|.	2.1|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78104|0.78104	0.4231|0.4231	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.77416|0.77416	-0.2596|-0.2596	10|5	0.87932|.	D|.	0|.	-13.8245|-13.8245	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294|.	Q96BN8|.	F105B_HUMAN|.	F|F	294|25	ENSP00000284274:L294F|.	ENSP00000284274:L294F|.	L|S	+|+	1|2	0|0	FAM105B|FAM105B	14745978|14745978	1.000000|1.000000	0.71417|0.71417	0.749000|0.749000	0.31150|0.31150	0.995000|0.995000	0.86356|0.86356	5.778000|5.778000	0.68940|0.68940	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	CTT|TCT	-	prints_FAM105		0.502	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	protein_coding	OTTHUMT00000366012.1	C		-		14692978	1	no_errors	ENST00000284274	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14692978	C	T	14692978	3	4	9	1	0	0	0	0	1	0	0	0	5390	913	32	2	906	2	FAM105B	5	14692978	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	14053726	14692978	166222282	95	526											
MYO10	4651	genome.wustl.edu	37	chr5	16670877	16670877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctaggaagctcgtccGcctcttctccagccgttcac	7	19	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:16670877G>A	ENST00000513610.1	-	39	6095	c.5641C>T	c.(5641-5643)Cgg>Tgg	p.R1881W	MYO10_ENST00000427430.2_Missense_Mutation_p.R1238W|MYO10_ENST00000505695.1_Missense_Mutation_p.R1220W|MYO10_ENST00000515803.1_Missense_Mutation_p.R1220W|MYO10_ENST00000274203.9_Missense_Mutation_p.R1238W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1881	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AAGCTCGTCCGCCTCTTCTCC	0.582																																																	0								ENSG00000145555						52	55	54					5																	16670877		1910	4130	6040	MYO10	SO:0001583	missense	0			-	HGNC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5641C>T	5.37:g.16670877G>A	ENSP00000421280:p.Arg1881Trp	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	19.44	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.R1881W	ENST00000513610.1	37	c.5641	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237422	0.79800	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88586	-2.3;-2.4;-2.32;-2.4;-2.32	5.92	5.03	0.67393	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.	.	.	.	D	0.93609	0.7959	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.979;0.991;0.994	D	0.93450	0.6801	9	0.48119	T	0.1	.	13.9949	0.64390	0.0:0.0:0.7247:0.2753	.	760;1521;1881	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	W	1881;1220;1238;1220;1238	ENSP00000421280:R1881W;ENSP00000425051:R1220W;ENSP00000274203:R1238W;ENSP00000421170:R1220W;ENSP00000391106:R1238W	ENSP00000274203:R1238W	R	-	1	2	MYO10	16723877	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.974000	0.56852	1.457000	0.47850	0.655000	0.94253	CGG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.582	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	protein_coding	OTTHUMT00000366167.1	G	NM_012334	-		16670877	-1	no_errors	ENST00000513610	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16670877	G	A	16670877	3	1	9	1	0	0	0	0	1	0	0	0	10064	1086	38	1	547	1	MYO10	5	16670877	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1977899	16670877	164244383	96	527											
CDH10	1008	genome.wustl.edu	37	chr5	24488218	24488219	+	Frame_Shift_Ins	INS	-	-	T													tttgacaagatcagaggctcINStttttttcgctgtcttttca							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:24488218_24488219insT	ENST00000264463.4	-	12	2427_2428	c.1920_1921insA	c.(1918-1923)aaagagfs	p.E641fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	641					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGCT	0.406										HNSCC(23;0.051)																																							0								ENSG00000040731																																			CDH10	SO:0001589	frameshift_variant	0				HGNC	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1921dupA	5.37:g.24488225_24488225dupT	ENSP00000264463:p.Glu641fs	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	Q9ULB3	Frame_Shift_Ins	INS							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E640fs	ENST00000264463.4	37	c.1921_1920	CCDS3892.1	5																																																																																			-	pfam_Cadherin_cytoplasmic-dom		0.406	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	protein_coding	OTTHUMT00000207345.2	-	NM_006727			24488219	-1	no_errors	ENST00000264463	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	24488219	-	T	24488218	7	5	9	1	0	1	1	0	0	0	0	0	3098	922	32	0	449	0	CDH10	5	24488218	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	7817341	24488218	156427042	97	528											
RNASEN	29102	genome.wustl.edu	37	chr5	31529150	31529150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcacggcactcaccatGtgtttccctgcatcatgatg	7	15	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:31529150G>A	ENST00000511367.2	-	3	261	c.17C>T	c.(16-18)aCa>aTa	p.T6I	DROSHA_ENST00000504361.1_5'UTR|DROSHA_ENST00000344624.3_Missense_Mutation_p.T6I|DROSHA_ENST00000513349.1_Missense_Mutation_p.T6I|DROSHA_ENST00000442743.1_Missense_Mutation_p.T6I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	6	Pro-rich.				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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CACTCACCATGTGTTTCCCTG	0.428																																																	0								ENSG00000113360						111	108	109					5																	31529150		1999	4188	6187	DROSHA	SO:0001583	missense	0			-	HGNC	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.17C>T	5.37:g.31529150G>A	ENSP00000425979:p.Thr6Ile	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.T6I	ENST00000511367.2	37	c.17	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816684	0.32145	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000507438	T;T;T;T;T	0.42513	1.58;1.58;0.97;0.97;0.98	4.11	3.24	0.37175	.	0.738248	0.11630	N	0.544883	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.06405	0.002;0.002	T	0.15694	-1.0428	10	0.87932	D	0	.	7.8966	0.29710	0.1118:0.0:0.8882:0.0	.	6;6	E7EMP9;Q9NRR4	.;RNC_HUMAN	I	6	ENSP00000425979:T6I;ENSP00000339845:T6I;ENSP00000409335:T6I;ENSP00000424161:T6I;ENSP00000430921:T6I	ENSP00000339845:T6I	T	-	2	0	DROSHA	31564907	0.017000	0.18338	0.005000	0.12908	0.238000	0.25445	2.364000	0.44187	1.332000	0.45431	0.563000	0.77884	ACA	-	NULL		0.428	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	G	NM_013235	-		31529150	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	SNP	0.005	A	A	31529150	G	A	31529150	3	1	9	1	0	0	0	0	1	0	0	0	13425	1377	48	2	4239	2	RNASEN	5	31529150	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7040932	31529150	149386110	98	529											
PDZD2	23037	genome.wustl.edu	37	chr5	32088059	32088059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaatgggcctcccagccttCggttttagattcaattaatc	7	11	1	1	rs373613274		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:32088059C>T	ENST00000438447.1	+	20	4893	c.4505C>T	c.(4504-4506)tCg>tTg	p.S1502L	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1502L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1502					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCCAGCCTTCGGTTTTAGAT	0.537																																																	0								ENSG00000133401	C	LEU/SER	1,4405		0,1,2202	19	22	21		4505	5.6	0.9	5		21	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1502/2840	32088059	1,13005	2203	4300	6503	PDZD2	SO:0001583	missense	0			-	HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4505C>T	5.37:g.32088059C>T	ENSP00000402033:p.Ser1502Leu	Somatic	0	110	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	85	18.27	Q9BXD4	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1502L	ENST00000438447.1	37	c.4505	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830251	0.71258	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.38560	1.13;1.13	5.55	5.55	0.83447	.	0.000000	0.44285	D	0.000473	T	0.63988	0.2558	M	0.65498	2.005	0.46542	D	0.99909	D	0.89917	1.0	D	0.79108	0.992	T	0.66196	-0.5984	10	0.87932	D	0	.	17.0083	0.86399	0.0:1.0:0.0:0.0	.	1502	O15018	PDZD2_HUMAN	L	1502;1303;1502	ENSP00000402033:S1502L;ENSP00000282493:S1502L	ENSP00000282493:S1502L	S	+	2	0	PDZD2	32123816	1.000000	0.71417	0.943000	0.38184	0.369000	0.29798	5.961000	0.70356	2.618000	0.88619	0.655000	0.94253	TCG	-	NULL		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	C		-		32088059	1	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	SNP	0.992	T	T	32088059	C	T	32088059	3	4	9	1	0	0	0	0	1	0	0	0	11703	893	31	1	4579	1	PDZD2	5	32088059	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	558909	32088059	148827201	99	530											
UGT3A2	167127	genome.wustl.edu	37	chr5	36035965	36035965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatagggcttgaggtgCgtcgcgccccctgtctggag	15	11	1	2	rs138782726	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:36035965C>T	ENST00000282507.3	-	7	1508	c.1407G>A	c.(1405-1407)acG>acA	p.T469T	UGT3A2_ENST00000513300.1_Silent_p.T435T|UGT3A2_ENST00000545528.1_Silent_p.T167T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGAGGTGCGTCGCGCCCC	0.622													C|||	3	0.000599042	0	0	5008	,	,		16308	0		0	False		,,,				2504	0.0031																0								ENSG00000168671	C	,	2,4404	4.2+/-10.8	0,2,2201	56	49	52		1305,1407	-5.5	0	5	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UGT3A2	NM_001168316.1,NM_174914.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	435/490,469/524	36035965	2,13004	2203	4300	6503	UGT3A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1407G>A	5.37:g.36035965C>T		Somatic	0	48	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T469	ENST00000282507.3	37	c.1407	CCDS3914.1	5																																																																																			-	pfam_UDP_glucos_trans		0.622	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	protein_coding	OTTHUMT00000253771.2	C	NM_174914	rs138782726		36035965	-1	no_errors	ENST00000282507	ensembl	human	known	74_37	silent	SNP	0.000	T	T	36035965	C	T	36035965	2	4	9	1	0	0	0	0	0	0	0	1	16971	755	27	1		1	UGT3A2	5	36035965	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3947906	36035965	144879295	100	531											
C5orf33	133686	genome.wustl.edu	37	chr5	36227666	36227666	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactagagcctttcaatgcaAgctatatcaaaacaaaagaa	5	8	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:36227666A>C	ENST00000381937.4	-	2	301	c.302T>G	c.(301-303)cTt>cGt	p.L101R	NADK2_ENST00000514504.1_Splice_Site_p.L101R|NADK2_ENST00000282512.3_5'UTR|NADK2_ENST00000397338.1_5'UTR|NADK2_ENST00000506945.1_5'UTR	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	101					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TTTCAATGCAAGCTATATCAA	0.284																																																	0								ENSG00000152620						76	71	72					5																	36227666		1819	4064	5883	NADK2	SO:0001630	splice_region_variant	0			-	HGNC	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.301-1T>G	5.37:g.36227666A>C		Somatic	0	105	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	134	10.67	B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP							pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ,pirsf_ATP-NAD-like_euk	p.L101R	ENST00000381937.4	37	c.302	CCDS47197.1	5	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276377	0.80580	.	.	ENSG00000152620	ENST00000381937;ENST00000514504	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.75079	0.3801	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.76721	-0.2855	8	0.59425	D	0.04	.	14.8859	0.70570	1.0:0.0:0.0:0.0	.	101	Q4G0N4	NAKD1_HUMAN	R	101	.	ENSP00000371362:L101R	L	-	2	0	NADKD1	36263423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.914000	0.87478	2.207000	0.71202	0.528000	0.53228	CTT	-	pirsf_ATP-NAD-like_euk		0.284	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NADK2	protein_coding	OTTHUMT00000367541.1	A	NM_153013	-	Missense_Mutation	36227666	-1	no_errors	ENST00000381937	ensembl	human	putative	74_37	missense	SNP	1.000	C	C	36227666	A	C	36227666	5	2	9	1	0	0	0	0	0	0	1	0	2294	86	3	5	1070	5	C5orf33	5	36227666	Splice_Site	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	191701	36227666	144687594	101	532											
ZNF131	7690	genome.wustl.edu	37	chr5	43161952	43161952	+	Frame_Shift_Del	DEL	A	A	-													gtaagaagcaaagaactgggAaaaaaattcatgtatgtcag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:43161952delA	ENST00000399534.1	+	5	1017	c.973delA	c.(973-975)aaafs	p.K326fs	ZNF131_ENST00000306938.4_Frame_Shift_Del_p.K292fs|ZNF131_ENST00000509156.1_Frame_Shift_Del_p.K326fs|ZNF131_ENST00000509634.1_Frame_Shift_Del_p.K292fs|ZNF131_ENST00000505606.2_Frame_Shift_Del_p.K292fs|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	326					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAGAACTGGGAAAAAAATTCA	0.363																																																	0								ENSG00000172262						61	57	58					5																	43161952		1865	4104	5969	ZNF131	SO:0001589	frameshift_variant	0				HGNC	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.973delA	5.37:g.43161952delA	ENSP00000382450:p.Lys326fs	Somatic	0	24	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B4DRL3|Q6PIF0	Frame_Shift_Del	DEL							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I327fs	ENST00000399534.1	37	c.973		5																																																																																			-	NULL		0.363	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	protein_coding	OTTHUMT00000367982.1	A	NM_003432			43161952	1	no_errors	ENST00000399534	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	43161952	A	-	43161952	7	5	9	1	0	1	0	1	0	0	0	0	17728	247	9	0	889	0	ZNF131	5	43161952	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	6934286	43161952	137753308	102	533											
RGNEF	64283	genome.wustl.edu	37	chr5	73188016	73188016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaattccaaggaggaacGcaataactggatgagacgga	11	9	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:73188016G>A	ENST00000426542.2	+	26	3547	c.3527G>A	c.(3526-3528)cGc>cAc	p.R1176H	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R140H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R863H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1176H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1176	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)										AAGGAGGAACGCAATAACTGG	0.433																																																	0								ENSG00000214944						85	84	84					5																	73188016		1989	4155	6144	ARHGEF28	SO:0001583	missense	0			-	HGNC		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.3527G>A	5.37:g.73188016G>A	ENSP00000412175:p.Arg1176His	Somatic	0	69	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	87	14.71	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R1176H	ENST00000426542.2	37	c.3527	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.469757	0.96274	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.75	5.75	0.90469	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.29480	U	0.012035	D	0.85292	0.5663	M	0.87900	2.915	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.998	D	0.86918	0.2065	10	0.87932	D	0	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	863;1176;1176;140;1176	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	H	1176;1176;1176;1176;1176;1176;863;140	ENSP00000296794:R1176H;ENSP00000441913:R1176H;ENSP00000441436:R1176H;ENSP00000287898:R1176H;ENSP00000411459:R1176H;ENSP00000412175:R1176H;ENSP00000296799:R863H;ENSP00000421081:R140H	ENSP00000287898:R1176H	R	+	2	0	RP11-428C6.1	73223772	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	9.398000	0.97281	2.719000	0.93026	0.655000	0.94253	CGC	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.433	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	G		-		73188016	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73188016	G	A	73188016	3	1	9	1	0	0	0	0	1	0	0	0	13291	1087	38	1	3629	1	RGNEF	5	73188016	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	30026064	73188016	107727244	103	534											
ENC1	8507	genome.wustl.edu	37	chr5	73930729	73930729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcatggcagctcatgcGctttgctgtcacatctccca	8	15	3	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:73930729G>A	ENST00000302351.4	-	2	2712	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.R528C|ENC1_ENST00000510316.1_Missense_Mutation_p.R455C	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	528				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	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.R528C(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)		CAGCTCATGCGCTTTGCTGTC	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000171617						97	91	93					5																	73930729		2203	4300	6503	ENC1	SO:0001583	missense	0			-	HGNC	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.1582C>T	5.37:g.73930729G>A	ENSP00000306356:p.Arg528Cys	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R528C	ENST00000302351.4	37	c.1582	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659426	0.47467	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.85411	-1.98;-1.98;-1.98	5.93	5.03	0.67393	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.91249	3.19	0.80722	D	1	P	0.50710	0.938	P	0.45829	0.494	D	0.91804	0.5454	10	0.72032	D	0.01	.	14.8976	0.70654	0.0:0.0:0.7439:0.2561	.	528	O14682	ENC1_HUMAN	C	528;455;528	ENSP00000306356:R528C;ENSP00000423804:R455C;ENSP00000446289:R528C	ENSP00000306356:R528C	R	-	1	0	ENC1	73966485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.001000	0.57046	2.815000	0.96918	0.561000	0.74099	CGC	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.478	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	protein_coding	OTTHUMT00000219862.2	G	NM_003633	-		73930729	-1	no_errors	ENST00000302351	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73930729	G	A	73930729	3	1	9	1	0	0	0	0	1	0	0	0	5115	1087	38	1	191	1	ENC1	5	73930729	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	742713	73930729	106984531	104	535											
SCAMP1	9522	genome.wustl.edu	37	chr5	77684680	77684680	+	Frame_Shift_Del	DEL	T	T	-													ggatccatcagttacacaagTgacaagaaatgttccaccag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:77684680delT	ENST00000538629.1	+	2	234	c.77delT	c.(76-78)gtgfs	p.V26fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	26					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTACACAAGTGACAAGAAAT	0.274																																																	0								ENSG00000085365						45	43	43					5																	77684680		1793	4047	5840	SCAMP1	SO:0001589	frameshift_variant	0				HGNC	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"Secretory carrier membrane proteins"	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.77delT	5.37:g.77684680delT	ENSP00000475496:p.Val26fs	Somatic	0	159	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	136	24.02	O43587|Q6FG23|Q96BX1|Q96QK5	Frame_Shift_Del	DEL							pfam_SCAMP	p.V26fs	ENST00000538629.1	37	c.77		5																																																																																			-	NULL		0.274	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	SCAMP1	protein_coding		T	NM_004866			77684680	1	no_errors	ENST00000538629	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	77684680	T	-	77684680	7	5	9	1	0	1	0	1	0	0	0	0	13878	1696	59	0	83	0	SCAMP1	5	77684680	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	3753951	77684680	103230580	105	536											
THBS4	7060	genome.wustl.edu	37	chr5	79351687	79351687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggcagacggaaggcgGcacaggatcctcctgaggct	15	12	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:79351687G>A	ENST00000350881.2	+	3	562	c.372G>A	c.(370-372)cgG>cgA	p.R124R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.R33R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	124	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R124R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGGAAGGCGGCACAGGATCC	0.567																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000113296						126	131	129					5																	79351687		2203	4300	6503	THBS4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.372G>A	5.37:g.79351687G>A		Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	B2R909|Q86TG2	Silent	SNP							pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R124	ENST00000350881.2	37	c.372	CCDS4049.1	5																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.567	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	protein_coding	OTTHUMT00000226977.1	G		-		79351687	1	no_errors	ENST00000350881	ensembl	human	known	74_37	silent	SNP	0.950	A	A	79351687	G	A	79351687	2	1	9	1	0	0	0	0	0	0	0	1	15863	1190	42	2		2	THBS4	5	79351687	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1667007	79351687	101563573	106	537											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111570402	111570402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcacattctgatcaggcCggggaagctgaatagaaaga	12	7	3	4	rs376132286		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:111570402C>A	ENST00000261486.5	-	12	1292	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	339						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTGATCAGGCCGGGGAAGCTG	0.458																																																	0								ENSG00000129595						212	203	206					5																	111570402		1915	4150	6065	EPB41L4A	SO:0001583	missense	0			-	HGNC	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1016G>T	5.37:g.111570402C>A	ENSP00000261486:p.Arg339Leu	Somatic	0	51	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	88	13.73	A4FUI6	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R339L	ENST00000261486.5	37	c.1016	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.269758	0.95429	.	.	ENSG00000129595	ENST00000261486	D	0.91237	-2.81	5.82	5.82	0.92795	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.85197	2.74	0.41557	D	0.988601	D	0.89917	1.0	D	0.91635	0.999	D	0.96235	0.9171	10	0.87932	D	0	.	18.8566	0.92255	0.0:1.0:0.0:0.0	.	339	Q9HCS5	E41LA_HUMAN	L	339	ENSP00000261486:R339L	ENSP00000261486:R339L	R	-	2	0	EPB41L4A	111598301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.657000	0.67996	2.752000	0.94435	0.655000	0.94253	CGG	-	pfam_FERM-adjacent		0.458	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	protein_coding	OTTHUMT00000370969.1	C		-		111570402	-1	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111570402	C	A	111570402	3	1	9	1	0	0	0	0	1	0	0	0	5157	652	23	3	1092	3	EPB41L4A	5	111570402	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	32218715	111570402	69344858	107	538											
SEMA6A	57556	genome.wustl.edu	37	chr5	115827498	115827498	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctggccattccgctgaatTcatccccgaatggttccaat	7	13	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:115827498T>A	ENST00000343348.6	-	7	1260	c.473A>T	c.(472-474)gAa>gTa	p.E158V	SEMA6A_ENST00000510263.1_Missense_Mutation_p.E158V|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.E158V|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	158	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCCGCTGAATTCATCCCCGAA	0.413																																																	0								ENSG00000092421						132	130	131					5																	115827498		1949	4137	6086	SEMA6A	SO:0001583	missense	0			-	HGNC	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.473A>T	5.37:g.115827498T>A	ENSP00000345512:p.Glu158Val	Somatic	0	36	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	39	31.58	Q9P2H9	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E158V	ENST00000343348.6	37	c.473	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	T	32	5.116878	0.94385	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009	T;T;T;T	0.52295	2.78;2.78;2.78;0.67	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.35341	1.055	0.80722	D	1	P;P	0.47910	0.902;0.88	P;P	0.55871	0.786;0.746	T	0.57271	-0.7840	10	0.87932	D	0	.	16.3126	0.82898	0.0:0.0:0.0:1.0	.	158;158	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	158	ENSP00000345512:E158V;ENSP00000257414:E158V;ENSP00000424388:E158V;ENSP00000421935:E158V	ENSP00000257414:E158V	E	-	2	0	SEMA6A	115855397	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.698000	0.84413	2.333000	0.79357	0.482000	0.46254	GAA	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.413	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	protein_coding	OTTHUMT00000371270.1	T	NM_020796	-		115827498	-1	no_errors	ENST00000257414	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115827498	T	A	115827498	3	1	9	1	0	0	0	0	1	0	0	0	14047	1783	62	5	2671	5	SEMA6A	5	115827498	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	4257096	115827498	65087762	108	539											
SLC12A2	6558	genome.wustl.edu	37	chr5	127520487	127520487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttcatttcagacatacCggcagatcaggttaaatgag	9	8	3	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:127520487C>T	ENST00000262461.2	+	26	3631	c.3442C>T	c.(3442-3444)Cgg>Tgg	p.R1148W	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R1132W	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1148					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TCAGACATACCGGCAGATCAG	0.303																																																	0								ENSG00000064651						106	113	110					5																	127520487		2201	4293	6494	SLC12A2	SO:0001583	missense	0			-	HGNC		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3442C>T	5.37:g.127520487C>T	ENSP00000262461:p.Arg1148Trp	Somatic	0	68	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	73	25.51	Q8N713|Q8WWH7	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R1148W	ENST00000262461.2	37	c.3442	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089454	0.76756	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.88896	-2.44;-2.44	5.31	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.95409	0.8496	10	0.87932	D	0	.	14.015	0.64519	0.2761:0.7239:0.0:0.0	.	1132;1148	P55011-3;P55011	.;S12A2_HUMAN	W	1148;1132	ENSP00000262461:R1148W;ENSP00000340878:R1132W	ENSP00000262461:R1148W	R	+	1	2	SLC12A2	127548386	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	4.645000	0.61404	0.761000	0.33130	-0.319000	0.08680	CGG	-	tigrfam_Na/K/Cl_cotransptS		0.303	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	protein_coding	OTTHUMT00000250972.1	C	NM_001046	-		127520487	1	no_errors	ENST00000262461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127520487	C	T	127520487	3	4	9	1	0	0	0	0	1	0	0	0	14391	643	23	1	3544	1	SLC12A2	5	127520487	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	11692989	127520487	53394773	109	540											
H2AFY	9555	genome.wustl.edu	37	chr5	134724634	134724634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtattccaggacggcGgccatgtacacgggtgcccc	14	13	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:134724634G>A	ENST00000511689.1	-	2	743	c.150C>T	c.(148-150)gcC>gcT	p.A50A	H2AFY_ENST00000304332.4_Silent_p.A50A|H2AFY_ENST00000312469.4_Silent_p.A50A|H2AFY_ENST00000510038.1_Silent_p.A50A|H2AFY_ENST00000423969.2_Silent_p.A50A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	50	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGACGGCGGCCATGTACA	0.542																																																	0								ENSG00000113648						102	91	95					5																	134724634		2203	4300	6503	H2AFY	SO:0001819	synonymous_variant	0			-	HGNC	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.150C>T	5.37:g.134724634G>A		Somatic	0	51	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	47	30.88	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP							pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom	p.A50	ENST00000511689.1	37	c.150	CCDS4185.1	5																																																																																			-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A		0.542	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	protein_coding	OTTHUMT00000251196.3	G	NM_004893	-		134724634	-1	no_errors	ENST00000511689	ensembl	human	known	74_37	silent	SNP	0.845	A	A	134724634	G	A	134724634	2	1	9	1	0	0	0	0	0	0	0	1	6931	1103	39	1		1	H2AFY	5	134724634	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7204147	134724634	46190626	110	541											
PSD2	84249	genome.wustl.edu	37	chr5	139216768	139216768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgccccgtgggaggcGtggctggaagaaattctacg	15	12	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:139216768G>A	ENST00000274710.3	+	11	1815	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	537	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGAGGCGTGGCTGGAAG	0.602																																																	0								ENSG00000146005						78	83	81					5																	139216768		2203	4300	6503	PSD2	SO:0001583	missense	0			-	HGNC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1610G>A	5.37:g.139216768G>A	ENSP00000274710:p.Arg537His	Somatic	0	69	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	56	31.71	D3DQD3|Q8N3J8	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.R537H	ENST00000274710.3	37	c.1610	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919246	0.92249	.	.	ENSG00000146005	ENST00000274710	T	0.80653	-1.4	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93128	0.7812	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94994	0.8137	10	0.87932	D	0	.	18.9015	0.92444	0.0:0.0:1.0:0.0	.	537	Q9BQI7	PSD2_HUMAN	H	537	ENSP00000274710:R537H	ENSP00000274710:R537H	R	+	2	0	PSD2	139196952	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.826000	0.99387	2.477000	0.83638	0.484000	0.47621	CGT	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	protein_coding	OTTHUMT00000251339.1	G	NM_032289	-		139216768	1	no_errors	ENST00000274710	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139216768	G	A	139216768	3	1	9	1	0	0	0	0	1	0	0	0	12652	1145	40	1	1648	1	PSD2	5	139216768	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4492134	139216768	41698492	111	542											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720140	140720140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaagtgtgggtgatagcGcgggacagcgggaaccctcc	16	10	0	1	rs146024512		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140720140G>A	ENST00000394576.2	+	1	1602	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	534	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)			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)			GGGTGATAGCGCGGGACAGCG	0.527																																																	0								ENSG00000081853	G	,,	0,4406		0,0,2203	157	155	156		,1602,1602	-10.4	0	5	dbSNP_134	156	2,8598		0,2,4298	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	,534/933,534/824	140720140	2,13004	2203	4300	6503	PCDHGA2	SO:0001819	synonymous_variant	0			-	HGNC	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.1602G>A	5.37:g.140720140G>A		Somatic	0	60	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q52LL6|Q9Y5D5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A534	ENST00000394576.2	37	c.1602	CCDS47289.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.527	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	G	NM_018915	rs146024512		140720140	1	no_errors	ENST00000394576	ensembl	human	known	74_37	silent	SNP	0.000	A	A	140720140	G	A	140720140	2	1	9	1	0	0	0	0	0	0	0	1	11556	1074	38	1		1	PCDHGA2	5	140720140	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1503372	140720140	40195120	112	543											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140739910	140739910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggaagctgcgggttagcGcggagaaggaatatttcaca	14	9	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140739910G>A	ENST00000522605.1	+	1	208	c.208G>A	c.(208-210)Gcg>Acg	p.A70T	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	70	Cadherin 1. {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(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGTTAGCGCGGAGAAGGA	0.542																																																	0								ENSG00000253910						70	74	73					5																	140739910		1841	4081	5922	PCDHGB2	SO:0001583	missense	0			-	HGNC	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.208G>A	5.37:g.140739910G>A	ENSP00000429018:p.Ala70Thr	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	Q3MIJ3|Q9UN65	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A70T	ENST00000522605.1	37	c.208	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	6.334	0.429740	0.11987	.	.	ENSG00000253910	ENST00000522605	T	0.37915	1.17	5.11	3.16	0.36331	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.23330	0.0564	N	0.25144	0.715	0.09310	N	1	B;B	0.31519	0.28;0.327	B;B	0.31812	0.077;0.136	T	0.14117	-1.0484	9	0.31617	T	0.26	.	7.8478	0.29435	0.0768:0.0:0.5292:0.394	.	70;70	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	70	ENSP00000429018:A70T	ENSP00000429018:A70T	A	+	1	0	PCDHGB2	140720094	0.000000	0.05858	0.633000	0.29310	0.290000	0.27261	-0.135000	0.10420	1.227000	0.43598	0.563000	0.77884	GCG	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.542	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	protein_coding	OTTHUMT00000374741.1	G	NM_018923	-		140739910	1	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	SNP	0.050	A	A	140739910	G	A	140739910	3	1	9	1	0	0	0	0	1	0	0	0	11565	1087	38	1	210	1	PCDHGB2	5	140739910	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	19770	140739910	40175350	113	544											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140767512	140767512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtgctctttctcttcCtgctgtctttgttctgcccg	8	14	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140767512C>A	ENST00000519479.1	+	1	61	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	21					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCTTCCTGCTGTCTTT	0.642											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000253953						6	7	6					5																	140767512		1705	3859	5564	PCDHGB4	SO:0001583	missense	0			-	HGNC	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.61C>A	5.37:g.140767512C>A	ENSP00000428288:p.Leu21Met	Somatic	0	38	0	1658	0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L21M	ENST00000519479.1	37	c.61	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	10.75	1.437584	0.25900	.	.	ENSG00000253953	ENST00000519479	T	0.56103	0.48	4.99	3.06	0.35304	.	.	.	.	.	T	0.47948	0.1473	N	0.08118	0	0.09310	N	1	D;P	0.63880	0.993;0.897	D;P	0.68353	0.957;0.472	T	0.29058	-1.0024	9	0.62326	D	0.03	.	7.1004	0.25333	0.2538:0.6152:0.0:0.131	.	21;21	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	21	ENSP00000428288:L21M	ENSP00000428288:L21M	L	+	1	2	PCDHGB4	140747696	0.000000	0.05858	1.000000	0.80357	0.171000	0.22731	-0.120000	0.10660	2.468000	0.83385	0.655000	0.94253	CTG	-	NULL		0.642	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	protein_coding	OTTHUMT00000374745.1	C	NM_003736	-		140767512	1	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	SNP	0.041	A	A	140767512	C	A	140767512	3	1	9	1	0	0	0	0	1	0	0	0	11567	680	24	3	63	3	PCDHGB4	5	140767512	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	27602	140767512	40147748	114	545											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140869033	140869033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatgggcgctattttTccctgagcttgatgagtggt	14	6	0	4			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140869033T>C	ENST00000252087.1	+	1	226	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTATTTTTCCCTGAGCTT	0.552																																																	0								ENSG00000240764						94	97	96					5																	140869033		2203	4300	6503	PCDHGC5	SO:0001583	missense	0			-	HGNC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.226T>C	5.37:g.140869033T>C	ENSP00000252087:p.Ser76Pro	Somatic	0	44	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	38	35.59	Q9Y5C2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S76P	ENST00000252087.1	37	c.226	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	T	8.817	0.936554	0.18206	.	.	ENSG00000240764	ENST00000252087	T	0.28895	1.59	5.53	4.42	0.53409	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.150415	0.31472	N	0.007584	T	0.45875	0.1364	M	0.80616	2.505	0.32431	N	0.548042	P;P	0.52316	0.89;0.952	P;P	0.54965	0.527;0.765	T	0.61417	-0.7067	10	0.62326	D	0.03	.	6.5436	0.22394	0.0:0.094:0.3503:0.5557	.	76;76	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	P	76	ENSP00000252087:S76P	ENSP00000252087:S76P	S	+	1	0	PCDHGC5	140849217	0.017000	0.18338	1.000000	0.80357	0.056000	0.15407	0.296000	0.19083	2.087000	0.62958	0.533000	0.62120	TCC	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.552	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	protein_coding	OTTHUMT00000251819.1	T	NM_018929	-		140869033	1	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140869033	T	C	140869033	3	2	9	1	0	0	0	0	1	0	0	0	11573	1783	62	5	228	5	PCDHGC5	5	140869033	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	101521	140869033	40046227	115	546											
TCOF1	6949	genome.wustl.edu	37	chr5	149769450	149769450	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcgctccatttcagGcatcagaaccaatgtggtga	8	13	3	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:149769450G>C	ENST00000504761.2	+	19	3047	c.3047G>C	c.(3046-3048)gGc>gCc	p.G1016A	TCOF1_ENST00000377797.3_Splice_Site_p.G1016A|TCOF1_ENST00000513346.1_Splice_Site_p.G1053A|TCOF1_ENST00000451292.1_Splice_Site_p.G1053A|TCOF1_ENST00000323668.7_Splice_Site_p.G939A|TCOF1_ENST00000439160.2_Splice_Site_p.G1016A|TCOF1_ENST00000445265.2_Splice_Site_p.G939A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1016					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATTTCAGGCATCAGAACC	0.582																																																	0								ENSG00000070814						66	64	65					5																	149769450		2203	4300	6503	TCOF1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3047-1G>C	5.37:g.149769450G>C		Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	52	21.21	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP							pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.G1053A	ENST00000504761.2	37	c.3158	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.496821	0.01001	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.33;-0.33;-0.33;-0.26;-0.27;-0.32;-0.21	4.9	0.187	0.15109	.	0.670270	0.13156	N	0.409483	T	0.22627	0.0546	N	0.00321	-1.65	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.30001	-0.9993	9	.	.	.	.	2.8931	0.05682	0.1592:0.4061:0.3252:0.1095	.	1016;939;1016;1016;939	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	A	1053;1016;939;939;1016;1016;1016;1053	ENSP00000400939:G1053A;ENSP00000367028:G1016A;ENSP00000409944:G939A;ENSP00000325223:G939A;ENSP00000406888:G1016A;ENSP00000390717:G1016A;ENSP00000421655:G1016A;ENSP00000427484:G1053A	.	G	+	2	0	TCOF1	149749643	0.087000	0.21565	0.068000	0.19968	0.006000	0.05464	0.068000	0.14531	0.028000	0.15324	-0.798000	0.03219	GGC	-	NULL		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	G	NM_001008656	-	Missense_Mutation	149769450	1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	SNP	0.093	C	C	149769450	G	C	149769450	5	2	9	1	0	0	0	0	0	0	1	0	15715	1217	42	4	3143	4	TCOF1	5	149769450	Splice_Site	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	8900417	149769450	31145810	116	547											
GALNT10	55568	genome.wustl.edu	37	chr5	153760019	153760019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcttcagaccgcattgctCggaaccgcaagaccattgtg	9	13	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:153760019C>T	ENST00000297107.6	+	6	903	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	GALNT10_ENST00000425427.2_Missense_Mutation_p.R256W|GALNT10_ENST00000377661.2_Missense_Mutation_p.R194W|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	256					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGCATTGCTCGGAACCGCAA	0.507																																																	0								ENSG00000164574						192	163	173					5																	153760019		2203	4300	6503	GALNT10	SO:0001583	missense	0			-	HGNC	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.766C>T	5.37:g.153760019C>T	ENSP00000297107:p.Arg256Trp	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R256W	ENST00000297107.6	37	c.766	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911398	0.72983	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.62105	0.17;0.17;0.05	5.41	3.23	0.37069	Glycosyl transferase, family 2 (1);	0.179383	0.51477	D	0.000100	T	0.70029	0.3177	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.985;0.999;1.0	P;P;P	0.58928	0.655;0.848;0.827	T	0.71404	-0.4603	10	0.51188	T	0.08	.	11.1041	0.48193	0.1304:0.7921:0.0:0.0774	.	194;256;256	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	W	256;256;194	ENSP00000415210:R256W;ENSP00000297107:R256W;ENSP00000366889:R194W	ENSP00000297107:R256W	R	+	1	2	GALNT10	153740212	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.744000	0.55112	1.229000	0.43630	0.462000	0.41574	CGG	-	pfam_Glyco_trans_2		0.507	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	protein_coding	OTTHUMT00000252453.1	C	NM_198321	-		153760019	1	no_errors	ENST00000297107	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153760019	C	T	153760019	3	4	9	1	0	0	0	0	1	0	0	0	6210	875	31	1	788	1	GALNT10	5	153760019	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3990569	153760019	27155241	117	548											
ODZ2	57451	genome.wustl.edu	37	chr5	167517646	167517646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctcccagggaacgccGgagcatacagaccttggttc	12	12	1	2	rs367902324		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:167517646G>A	ENST00000518659.1	+	8	1622	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	TENM2_ENST00000403607.2_Missense_Mutation_p.R361Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R407Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R296Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R528Q|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	528		Cleavage. {ECO:0000250}.			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)										AGGGAACGCCGGAGCATACAG	0.512																																																	0								ENSG00000145934	G	GLN/ARG	0,4142		0,0,2071	214	216	215		1583	6	1	5		215	1,8421		0,1,4210	no	missense	ODZ2	NM_001122679.1	43	0,1,6281	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	528/2766	167517646	1,12563	2071	4211	6282	TENM2	SO:0001583	missense	0			-	HGNC	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.1583G>A	5.37:g.167517646G>A	ENSP00000429430:p.Arg528Gln	Somatic	0	62	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	66	23.26	Q9ULU2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R528Q	ENST00000518659.1	37	c.1583		5	.	.	.	.	.	.	.	.	.	.	G	36	5.844075	0.97016	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.96	5.96	0.96718	.	0.060449	0.64402	D	0.000006	T	0.52677	0.1749	M	0.81112	2.525	0.51767	D	0.999931	D;D;D	0.71674	0.998;0.991;0.994	P;P;P	0.59012	0.85;0.552;0.842	T	0.53507	-0.8429	10	0.62326	D	0.03	.	20.4116	0.99017	0.0:0.0:1.0:0.0	.	528;296;407	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	528;528;407;296;361	ENSP00000429430:R528Q;ENSP00000438635:R528Q;ENSP00000428964:R407Q;ENSP00000427874:R296Q;ENSP00000384905:R361Q	ENSP00000384905:R361Q	R	+	2	0	ODZ2	167450224	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.476000	0.97823	2.827000	0.97445	0.655000	0.94253	CGG	-	NULL		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679	-		167517646	1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167517646	G	A	167517646	3	1	9	1	0	0	0	0	1	0	0	0	10837	1116	39	1	1613	1	ODZ2	5	167517646	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	13757627	167517646	13397614	118	549											
WWC1	23286	genome.wustl.edu	37	chr5	167849098	167849098	+	Frame_Shift_Del	DEL	A	A	-													caactctgcactcccagctgAaaaggtgagtggtgggcggt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:167849098delA	ENST00000265293.4	+	10	1772	c.1270delA	c.(1270-1272)aaafs	p.K424fs	WWC1_ENST00000521089.1_Frame_Shift_Del_p.K424fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	424					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCCAGCTGAAAAGGTGAGT	0.577																																																	0								ENSG00000113645						52	53	52					5																	167849098		2203	4300	6503	WWC1	SO:0001589	frameshift_variant	0				HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1270delA	5.37:g.167849098delA	ENSP00000265293:p.Lys424fs	Somatic	0	22	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Frame_Shift_Del	DEL							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.S425fs	ENST00000265293.4	37	c.1270	CCDS4366.1	5																																																																																			-	NULL		0.577	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	A	NM_015238			167849098	1	no_errors	ENST00000265293	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	167849098	A	-	167849098	7	5	9	1	0	1	0	1	0	0	0	0	17418	247	9	0	1308	0	WWC1	5	167849098	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	331452	167849098	13066162	119	550											
RARS	5917	genome.wustl.edu	37	chr5	167946112	167946112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgaaggtgaacatgtggCgtatgctgctatgtgaagca	13	5	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:167946112C>T	ENST00000231572.3	+	15	1954	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	RARS_ENST00000538719.1_Missense_Mutation_p.R428C	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	634					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAACATGTGGCGTATGCTGCT	0.348																																																	0								ENSG00000113643						87	83	84					5																	167946112		2203	4300	6503	RARS	SO:0001583	missense	0			-	HGNC	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1900C>T	5.37:g.167946112C>T	ENSP00000231572:p.Arg634Cys	Somatic	0	85	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	83	15.15	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP							pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.R634C	ENST00000231572.3	37	c.1900	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478719	0.63849	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	D;D	0.90504	-2.68;-2.68	5.78	4.84	0.62591	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.054331	0.64402	D	0.000002	D	0.97031	0.9030	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97948	1.0330	10	0.87932	D	0	-9.0398	15.4314	0.75102	0.1656:0.8344:0.0:0.0	.	634	P54136	SYRC_HUMAN	C	634;428	ENSP00000231572:R634C;ENSP00000439108:R428C	ENSP00000231572:R634C	R	+	1	0	RARS	167878690	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	1.636000	0.37144	2.722000	0.93159	0.655000	0.94253	CGT	-	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia		0.348	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	protein_coding	OTTHUMT00000252794.2	C	NM_002887	-		167946112	1	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	SNP	1.000	T	T	167946112	C	T	167946112	3	4	9	1	0	0	0	0	1	0	0	0	13066	768	27	1	1958	1	RARS	5	167946112	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	97014	167946112	12969148	120	551											
EXOC2	55770	genome.wustl.edu	37	chr6	637794	637794	+	Frame_Shift_Del	DEL	G	G	-													tggagagatgccggtcacaaGggggggttgtcgtgatcgag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:637794delG	ENST00000230449.4	-	2	160	c.25delC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				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.Q6fs*28(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)		CCGGTCACAAGGGGGGGTTGT	0.483																																																	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000112685						119	118	118					6																	637794		2203	4300	6503	EXOC2	SO:0001589	frameshift_variant	0				HGNC	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.25delC	6.37:g.637794delG	ENSP00000230449:p.Leu9fs	Somatic	0	40	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Del	DEL							pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.V10fs	ENST00000230449.4	37	c.25	CCDS34327.1	6																																																																																			-	pfam_IPT,superfamily_Ig_E-set		0.483	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	protein_coding	OTTHUMT00000039627.1	G	NM_018303			637794	-1	no_errors	ENST00000230449	ensembl	human	known	74_37	frame_shift_del	DEL	0.974	-	-	637794	G	-	637794	7	5	9	1	0	1	0	1	0	0	0	0	5304	1000	35	0	2857	0	EXOC2	6	637794	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09		637794	170477273	121	552											
RREB1	6239	genome.wustl.edu	37	chr6	7230854	7230854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcgccggccgctgaggCgtcggggcgcggggaggaca	22	11	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:7230854C>T	ENST00000349384.6	+	10	2836	c.2522C>T	c.(2521-2523)gCg>gTg	p.A841V	RREB1_ENST00000379933.3_Missense_Mutation_p.A841V|RREB1_ENST00000334984.6_Missense_Mutation_p.A841V|RREB1_ENST00000379938.2_Missense_Mutation_p.A841V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	841					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)				GCCGCTGAGGCGTCGGGGCGC	0.701																																																	0								ENSG00000124782						7	8	8					6																	7230854		1826	3596	5422	RREB1	SO:0001583	missense	0			-	HGNC	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.2522C>T	6.37:g.7230854C>T	ENSP00000305560:p.Ala841Val	Somatic	0	41	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A841V	ENST00000349384.6	37	c.2522	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436766	0.12104	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11169	2.93;2.89;2.93;2.8	4.98	4.98	0.66077	.	0.095008	0.45361	D	0.000364	T	0.05273	0.0140	M	0.63428	1.95	0.24495	N	0.994281	D;P;P	0.55605	0.972;0.915;0.545	B;B;B	0.41946	0.371;0.148;0.048	T	0.25710	-1.0124	10	0.48119	T	0.1	-39.977	6.3427	0.21332	0.0:0.7825:0.0:0.2175	.	841;841;841	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	841	ENSP00000369265:A841V;ENSP00000369270:A841V;ENSP00000305560:A841V;ENSP00000335574:A841V	ENSP00000335574:A841V	A	+	2	0	RREB1	7175853	0.247000	0.23920	0.816000	0.32577	0.046000	0.14306	1.382000	0.34374	2.576000	0.86940	0.655000	0.94253	GCG	-	NULL		0.701	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	protein_coding	OTTHUMT00000352985.1	C		-		7230854	1	no_errors	ENST00000379938	ensembl	human	known	74_37	missense	SNP	0.737	T	T	7230854	C	T	7230854	3	4	9	1	0	0	0	0	1	0	0	0	13687	768	27	1	2548	1	RREB1	6	7230854	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6593060	7230854	163884213	122	553											
HDGFL1	154150	genome.wustl.edu	37	chr6	22570532	22570532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggcatgccgaggcacCgggcggcggagatcgcgaca	19	11	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:22570532C>T	ENST00000230012.3	+	1	855	c.728C>T	c.(727-729)cCg>cTg	p.P243L	HDGFL1_ENST00000510882.2_Missense_Mutation_p.P243L	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	243										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCGAGGCACCGGGCGGCGGA	0.682																																																	0								ENSG00000112273						7	10	9					6																	22570532		2146	4232	6378	HDGFL1	SO:0001583	missense	0			-	HGNC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.728C>T	6.37:g.22570532C>T	ENSP00000230012:p.Pro243Leu	Somatic	0	47	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	Q96MJ6	Missense_Mutation	SNP							pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.P243L	ENST00000230012.3	37	c.728	CCDS34347.1	6	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237986	0.58886	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.43294	0.95;0.95	2.88	1.54	0.23209	.	1.207570	0.05988	N	0.645495	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.20184	0.028	T	0.29274	-1.0017	10	0.87932	D	0	-1.4269	4.4874	0.11797	0.0:0.7227:0.0:0.2773	.	243	Q5TGJ6	HDGL1_HUMAN	L	243	ENSP00000230012:P243L;ENSP00000442129:P243L	ENSP00000230012:P243L	P	+	2	0	HDGFL1	22678511	0.004000	0.15560	0.001000	0.08648	0.302000	0.27658	0.829000	0.27449	0.438000	0.26450	0.505000	0.49811	CCG	-	NULL		0.682	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	protein_coding	OTTHUMT00000043500.1	C	NM_138574	-		22570532	1	no_errors	ENST00000230012	ensembl	human	known	74_37	missense	SNP	0.004	T	T	22570532	C	T	22570532	3	4	9	1	0	0	0	0	1	0	0	0	7021	652	23	1	730	1	HDGFL1	6	22570532	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	15339678	22570532	148544535	123	554											
TRIM26	7726	genome.wustl.edu	37	chr6	30153712	30153712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggaaggggaccaggcGccgggtgaaggtggcagtga	19	9	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30153712G>A	ENST00000454678.2	-	10	1997	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	TRIM26_ENST00000453195.1_Missense_Mutation_p.R521C|TRIM26_ENST00000437089.1_Missense_Mutation_p.R521C	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	521	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GGGACCAGGCGCCGGGTGAAG	0.602																																																	0								ENSG00000234127						71	55	61					6																	30153712		1511	2708	4219	TRIM26	SO:0001583	missense	0			-	HGNC	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1561C>T	6.37:g.30153712G>A	ENSP00000410446:p.Arg521Cys	Somatic	0	40	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A6NG96|Q5SRL2	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R521C	ENST00000454678.2	37	c.1561	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242423	0.39598	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.61627	0.09;0.09;0.09	5.68	2.74	0.32292	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.44285	D	0.000466	T	0.61185	0.2327	M	0.66297	2.02	0.09310	N	0.999998	D;D	0.89917	1.0;0.999	D;P	0.73708	0.981;0.828	T	0.57711	-0.7764	10	0.72032	D	0.01	.	12.7378	0.57234	0.0:0.0:0.5744:0.4256	.	521;521	Q5SRL2;Q12899	.;TRI26_HUMAN	C	521	ENSP00000391879:R521C;ENSP00000410446:R521C;ENSP00000395491:R521C	ENSP00000395491:R521C	R	-	1	0	TRIM26	30261691	0.195000	0.23338	0.044000	0.18714	0.994000	0.84299	2.537000	0.45702	0.726000	0.32339	0.544000	0.68410	CGC	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	protein_coding	OTTHUMT00000253442.1	G	NM_003449	-		30153712	-1	no_errors	ENST00000437089	ensembl	human	known	74_37	missense	SNP	0.000	A	A	30153712	G	A	30153712	3	1	9	1	0	0	0	0	1	0	0	0	16507	1087	38	1	62	1	TRIM26	6	30153712	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7583180	30153712	140961355	124	555											
ABCF1	23	genome.wustl.edu	37	chr6	30552061	30552061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggagcggcggcttcagGgacagctggaacaaggggat	18	7	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30552061G>A	ENST00000326195.8	+	13	1307	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	ABCF1_ENST00000376545.3_Missense_Mutation_p.G361R|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	399	ABC transporter 1. {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						GCGGCTTCAGGGACAGCTGGA	0.597																																																	0								ENSG00000204574						79	69	72					6																	30552061		1509	2708	4217	ABCF1	SO:0001583	missense	0			-	HGNC	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.1195G>A	6.37:g.30552061G>A	ENSP00000313603:p.Gly399Arg	Somatic	0	35	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G399R	ENST00000326195.8	37	c.1195	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979091	0.34942	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.93247	-3.19;-3.19	4.82	3.05	0.35203	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.473208	0.23360	N	0.049029	T	0.71995	0.3406	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.23128	0.08;0.009;0.009	B;B;B	0.25987	0.065;0.016;0.016	T	0.66196	-0.5984	10	0.36615	T	0.2	-6.876	6.5639	0.22501	0.3601:0.0:0.6399:0.0	.	361;399;399	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	R	399;361	ENSP00000313603:G399R;ENSP00000365728:G361R	ENSP00000313603:G399R	G	+	1	0	ABCF1	30660040	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	3.254000	0.51477	0.640000	0.30582	0.455000	0.32223	GGA	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	protein_coding	OTTHUMT00000076137.3	G		-		30552061	1	no_errors	ENST00000326195	ensembl	human	known	74_37	missense	SNP	0.997	A	A	30552061	G	A	30552061	3	1	9	1	0	0	0	0	1	0	0	0	65	1233	43	2	1245	2	ABCF1	6	30552061	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	398349	30552061	140563006	125	556											
PPP1R10	5514	genome.wustl.edu	37	chr6	30570263	30570264	+	In_Frame_Ins	INS	-	-	GGA													ctcctctggcgcctcggaatINSggaggaggaggaggaggagg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30570263_30570264insGGA	ENST00000376511.2	-	19	2714_2715	c.2162_2163insTCC	c.(2161-2163)cca>ccTCCa	p.721_721P>PP		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	721	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CGCCTCGGAATggaggaggagg	0.673																																																	0								ENSG00000204569																																			PPP1R10	SO:0001652	inframe_insertion	0				HGNC	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162dupTCC	6.37:g.30570270_30570272dupGGA	ENSP00000365694:p.Pro721dup	Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	77	13.48	O00405	In_Frame_Ins	INS							pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.722in_frame_insP	ENST00000376511.2	37	c.2163_2162	CCDS4681.1	6																																																																																			-	NULL		0.673	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	protein_coding	OTTHUMT00000076556.2	-	NM_002714			30570264	-1	no_errors	ENST00000376511	ensembl	human	known	74_37	in_frame_ins	INS	0.355:0.990	GGA	GGA	30570264	-	GGA	30570263	7	5	9	1	0	1	1	0	0	0	0	0	12357	1451	51	0	667	0	PPP1R10	6	30570263	In_Frame_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	18202	30570263	140544804	126	557											
MDC1	9656	genome.wustl.edu	37	chr6	30671546	30671546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggctttgagaggccttaGgctggagctccggggtgaac	17	9	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30671546G>T	ENST00000376406.3	-	10	6061	c.5414C>A	c.(5413-5415)cCt>cAt	p.P1805H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1541H	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1805	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAGGCCTTAGGCTGGAGCTC	0.532								Other conserved DNA damage response genes																																									0								ENSG00000137337						125	119	121					6																	30671546		2203	4300	6503	MDC1	SO:0001583	missense	0			-	HGNC	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5414C>A	6.37:g.30671546G>T	ENSP00000365588:p.Pro1805His	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP							pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.P1805H	ENST00000376406.3	37	c.5414	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432780	0.25813	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.10288	2.89;2.89	5.24	2.45	0.29901	.	1.136940	0.06920	N	0.809126	T	0.12646	0.0307	M	0.70275	2.135	0.09310	N	1	D;D;B	0.71674	0.994;0.998;0.073	P;P;B	0.62740	0.906;0.753;0.064	T	0.12708	-1.0537	10	0.49607	T	0.09	-0.4349	4.2935	0.10890	0.086:0.1564:0.5953:0.1622	.	1541;1805;782	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	H	1805;1541;1518;1371	ENSP00000365588:P1805H;ENSP00000365587:P1541H	ENSP00000365587:P1541H	P	-	2	0	MDC1	30779525	0.282000	0.24268	0.002000	0.10522	0.111000	0.19643	1.358000	0.34102	0.298000	0.22638	-1.130000	0.01982	CCT	-	NULL		0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	protein_coding	OTTHUMT00000076103.1	G	NM_014641	-		30671546	-1	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	SNP	0.034	T	T	30671546	G	T	30671546	3	4	9	1	0	0	0	0	1	0	0	0	9405	1000	35	3	879	3	MDC1	6	30671546	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	101283	30671546	140443521	127	558											
PXT1	222659	genome.wustl.edu	37	chr6	36359632	36359632	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaaatgatctagtgcatctCtgccatcctgttgaagatcc	7	11	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:36359632C>G	ENST00000454782.2	-	5	803	c.320G>C	c.(319-321)aGa>aCa	p.R107T	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	107					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											TAGTGCATCTCTGCCATCCTG	0.318																																																	0								ENSG00000179165						98	99	99					6																	36359632		2203	4300	6503	PXT1	SO:0001583	missense	0			-	HGNC	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.320G>C	6.37:g.36359632C>G	ENSP00000419944:p.Arg107Thr	Somatic	0	112	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	90	36.17	J3KR74	Missense_Mutation	SNP							NULL	p.R107T	ENST00000454782.2	37	c.320	CCDS4820.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.109|6.109	0.388447|0.388447	0.11581|0.11581	.|.	.|.	ENSG00000179165|ENSG00000179165	ENST00000459696|ENST00000454782;ENST00000538109	.|.	.|.	.|.	4.84|4.84	3.97|3.97	0.46021|0.46021	.|.	.|0.174287	.|0.27906	.|N	.|0.017366	T|T	0.50429|0.50429	0.1615|0.1615	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.67725	.|0.953	T|T	0.49532|0.49532	-0.8930|-0.8930	4|8	.|0.42905	.|T	.|0.14	-0.8805|-0.8805	13.384|13.384	0.60785|0.60785	0.1587:0.8413:0.0:0.0|0.1587:0.8413:0.0:0.0	.|.	.|24	.|Q8NFP0	.|PXT1_HUMAN	Q|T	31|107;24	.|.	.|ENSP00000419944:R107T	E|R	-|-	1|2	0|0	PXT1|PXT1	36467610|36467610	0.411000|0.411000	0.25384|0.25384	0.070000|0.070000	0.20053|0.20053	0.003000|0.003000	0.03518|0.03518	1.836000|1.836000	0.39191|0.39191	0.744000|0.744000	0.32741|0.32741	-0.808000|-0.808000	0.03180|0.03180	GAG|AGA	-	NULL		0.318	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PXT1	protein_coding	OTTHUMT00000357516.2	C	NM_152990	-		36359632	-1	no_errors	ENST00000454782	ensembl	human	putative	74_37	missense	SNP	0.062	G	G	36359632	C	G	36359632	3	3	9	1	0	0	0	0	1	0	0	0	12861	913	32	4	88	4	PXT1	6	36359632	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5688086	36359632	134755435	128	559											
KLHDC3	116138	genome.wustl.edu	37	chr6	42986276	42986276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgctgcctgaggggCgccggagccactcggcctgt	15	15	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:42986276C>T	ENST00000326974.4	+	6	910	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	KLHDC3_ENST00000244670.8_Missense_Mutation_p.R105C|KLHDC3_ENST00000332245.8_Missense_Mutation_p.R180C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	239					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)			GCCTGAGGGGCGCCGGAGCCA	0.562																																																	0								ENSG00000124702						89	100	96					6																	42986276		2203	4300	6503	KLHDC3	SO:0001583	missense	0			-	HGNC	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.715C>T	6.37:g.42986276C>T	ENSP00000313995:p.Arg239Cys	Somatic	0	18	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A8K2W9	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1	p.R239C	ENST00000326974.4	37	c.715	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377273	0.61735	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.74947	-0.89;-0.89;-0.89	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	H	0.98701	4.305	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	0.93433	0.6787	10	0.87932	D	0	-5.3481	13.2872	0.60249	0.2768:0.7232:0.0:0.0	.	239;180;105;239	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	C	239;239;105;239;212;180	ENSP00000313995:R239C;ENSP00000244670:R105C;ENSP00000331562:R180C	ENSP00000244670:R105C	R	+	1	0	KLHDC3	43094254	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.809000	0.47971	2.692000	0.91855	0.561000	0.74099	CGC	-	pfam_Kelch_1		0.562	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	protein_coding	OTTHUMT00000040570.1	C	NM_057161	-		42986276	1	no_errors	ENST00000326974	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42986276	C	T	42986276	3	4	9	1	0	0	0	0	1	0	0	0	8359	768	27	1	733	1	KLHDC3	6	42986276	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6626644	42986276	128128791	129	560											
AARS2	57505	genome.wustl.edu	37	chr6	44271108	44271108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcatcctgccccacgGcctcctgcacagtgttctcc	7	20	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:44271108G>A	ENST00000244571.4	-	15	2062	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCCCCACGGCCTCCTGCAC	0.637																																																	0								ENSG00000124608						47	43	44					6																	44271108		2203	4300	6503	AARS2	SO:0001583	missense	0			-	HGNC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2060C>T	6.37:g.44271108G>A	ENSP00000244571:p.Ala687Val	Somatic	0	30	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Missense_Mutation	SNP							pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.A687V	ENST00000244571.4	37	c.2060	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	G	5.518	0.280511	0.10458	.	.	ENSG00000124608	ENST00000244571	T	0.62788	0.0	6.17	3.42	0.39159	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.228496	0.44902	N	0.000415	T	0.19406	0.0466	N	0.20304	0.555	0.20703	N	0.999864	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	10	0.16896	T	0.51	-8.1589	6.8564	0.24042	0.3788:0.0:0.6212:0.0	.	687	Q5JTZ9	SYAM_HUMAN	V	687	ENSP00000244571:A687V	ENSP00000244571:A687V	A	-	2	0	AARS2	44379086	0.142000	0.22610	0.773000	0.31616	0.137000	0.21094	2.618000	0.46393	0.921000	0.36994	-0.140000	0.14226	GCC	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc		0.637	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	protein_coding	OTTHUMT00000040741.2	G	NM_020745	-		44271108	-1	no_errors	ENST00000244571	ensembl	human	known	74_37	missense	SNP	0.495	A	A	44271108	G	A	44271108	3	1	9	1	0	0	0	0	1	0	0	0	20	1203	42	2	929	2	AARS2	6	44271108	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1284832	44271108	126843959	130	561											
TFAP2B	7021	genome.wustl.edu	37	chr6	50791450	50791450	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctctcgggccttgaccccCggagggactaccactcggtc	12	16	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:50791450C>A	ENST00000393655.3	+	2	581	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	TFAP2B_ENST00000263046.4_Silent_p.R147R|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	138					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCTTGACCCCCGGAGGGACTA	0.721																																					Pancreas(116;1373 2332 5475 10752)												0								ENSG00000008196						12	15	14					6																	50791450		2198	4295	6493	TFAP2B	SO:0001819	synonymous_variant	0			-	HGNC	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.412C>A	6.37:g.50791450C>A		Somatic	0	16	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP							pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.R147	ENST00000393655.3	37	c.439	CCDS4934.2	6																																																																																			-	NULL		0.721	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	protein_coding	OTTHUMT00000040886.3	C	NM_003221	-		50791450	1	no_errors	ENST00000263046	ensembl	human	known	74_37	silent	SNP	0.952	A	A	50791450	C	A	50791450	2	1	9	1	0	0	0	0	0	0	0	1	15795	643	23	3		3	TFAP2B	6	50791450	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6520342	50791450	120323617	131	562											
COL12A1	1303	genome.wustl.edu	37	chr6	75838038	75838038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatttcctgttagatggCcaccatctccatcttcataa	4	13	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:75838038C>T	ENST00000322507.8	-	38	6623	c.6314G>A	c.(6313-6315)gGc>gAc	p.G2105D	COL12A1_ENST00000416123.2_Missense_Mutation_p.G2105D|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2105D|COL12A1_ENST00000345356.6_Missense_Mutation_p.G941D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2105	Fibronectin type-III 16. {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						TGTTAGATGGCCACCATCTCC	0.373																																																	0								ENSG00000111799						146	144	145					6																	75838038		1875	4096	5971	COL12A1	SO:0001583	missense	0			-	HGNC	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.6314G>A	6.37:g.75838038C>T	ENSP00000325146:p.Gly2105Asp	Somatic	0	56	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	58	23.68	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G2105D	ENST00000322507.8	37	c.6314	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235098	0.58886	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.9	4.1	0.47936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.115091	0.56097	D	0.000024	T	0.34978	0.0916	L	0.43757	1.38	0.42148	D	0.991544	B;B	0.32918	0.39;0.171	B;B	0.41299	0.353;0.174	T	0.20174	-1.0283	10	0.16420	T	0.52	.	16.7551	0.85497	0.0:0.7427:0.2573:0.0	.	941;2105	Q99715-2;Q99715	.;COCA1_HUMAN	D	2105;2105;941;2105;2105	ENSP00000325146:G2105D;ENSP00000305147:G941D;ENSP00000412864:G2105D;ENSP00000421216:G2105D	ENSP00000325146:G2105D	G	-	2	0	COL12A1	75894758	0.994000	0.37717	0.764000	0.31436	0.995000	0.86356	3.587000	0.53957	0.801000	0.34066	0.455000	0.32223	GGC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	C	NM_004370	-		75838038	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75838038	C	T	75838038	3	4	9	1	0	0	0	0	1	0	0	0	3671	739	26	2	2993	2	COL12A1	6	75838038	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	25046588	75838038	95277029	132	563											
AIM1	202	genome.wustl.edu	37	chr6	106960257	106960257	+	Frame_Shift_Del	DEL	G	G	-													ccgtaggtcggggaggcggaGggggtcgcagaaatccaccg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:106960257delG	ENST00000369066.3	+	1	528	c.41delG	c.(40-42)aggfs	p.R14fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGGAGGCGGAGGGGGTCGCAG	0.672																																																	0								ENSG00000112297						16	20	18					6																	106960257		2191	4263	6454	AIM1	SO:0001589	frameshift_variant	0				HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.41delG	6.37:g.106960257delG	ENSP00000358062:p.Arg14fs	Somatic	0	55	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL							pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S16fs	ENST00000369066.3	37	c.41	CCDS34506.1	6																																																																																			-	NULL		0.672	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G				106960257	1	no_errors	ENST00000369066	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	106960257	G	-	106960257	7	5	9	1	0	1	0	1	0	0	0	0	430	1000	35	0	43	0	AIM1	6	106960257	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09	31122219	106960257	64154810	133	564											
SMPD2	6610	genome.wustl.edu	37	chr6	109764231	109764231	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactgctacgtcagccagCaggagctgaagccatttccc	10	13	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:109764231C>T	ENST00000258052.3	+	8	1035	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	226					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CGTCAGCCAGCAGGAGCTGAA	0.512																																																	0								ENSG00000135587						94	86	88					6																	109764231		2203	4300	6503	SMPD2	SO:0001587	stop_gained	0			-	HGNC	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.676C>T	6.37:g.109764231C>T	ENSP00000258052:p.Gln226*	Somatic	0	25	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	Q5TED1|Q9BWR3	Nonsense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q226*	ENST00000258052.3	37	c.676	CCDS5075.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994708	0.74703	.	.	ENSG00000135587	ENST00000258052	.	.	.	5.95	-0.876	0.10624	.	0.837431	0.11297	N	0.578680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5566	16.2854	0.82717	0.6502:0.3498:0.0:0.0	.	.	.	.	X	226	.	ENSP00000258052:Q226X	Q	+	1	0	SMPD2	109870924	0.029000	0.19370	0.494000	0.27515	0.320000	0.28249	-0.192000	0.09587	0.089000	0.17243	-0.182000	0.12963	CAG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.512	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	protein_coding	OTTHUMT00000041755.1	C		-		109764231	1	no_errors	ENST00000258052	ensembl	human	known	74_37	nonsense	SNP	0.002	T	T	109764231	C	T	109764231	4	4	9	1	0	0	0	0	0	1	0	0	14813	711	25	2	706	2	SMPD2	6	109764231	Nonsense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2803974	109764231	61350836	134	565											
SLC22A16	85413	genome.wustl.edu	37	chr6	110768131	110768131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatcaactgcaaacgccGctgctattccaaacaaaaac	4	12	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:110768131G>A	ENST00000368919.3	-	3	662	c.596C>T	c.(595-597)gCg>gTg	p.A199V	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.A199V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A165V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	199					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TGCAAACGCCGCTGCTATTCC	0.438																																																	0								ENSG00000004809						77	73	74					6																	110768131		2203	4300	6503	SLC22A16	SO:0001583	missense	0			-	HGNC		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.596C>T	6.37:g.110768131G>A	ENSP00000357915:p.Ala199Val	Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	27	41.30	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A199V	ENST00000368919.3	37	c.596	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	G	4.532	0.098718	0.08681	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.14	0.738	0.18319	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.596486	0.17144	N	0.185356	T	0.09992	0.0245	N	0.03608	-0.345	0.20975	N	0.999818	B;B	0.16802	0.019;0.004	B;B	0.13407	0.009;0.005	T	0.41233	-0.9520	10	0.11182	T	0.66	.	8.8607	0.35256	0.7846:0.0:0.2154:0.0	.	199;165	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	199;116;165;199;29;156;156	ENSP00000357915:A199V;ENSP00000395642:A116V;ENSP00000328583:A165V;ENSP00000408799:A199V;ENSP00000409306:A29V;ENSP00000416310:A156V;ENSP00000401007:A156V	ENSP00000328583:A165V	A	-	2	0	SLC22A16	110874824	0.074000	0.21230	0.000000	0.03702	0.047000	0.14425	1.142000	0.31540	-0.100000	0.12241	-0.258000	0.10820	GCG	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.438	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	protein_coding	OTTHUMT00000043428.1	G	NM_033125	-		110768131	-1	no_errors	ENST00000368919	ensembl	human	known	74_37	missense	SNP	0.268	A	A	110768131	G	A	110768131	3	1	9	1	0	0	0	0	1	0	0	0	14455	1087	38	1	1161	1	SLC22A16	6	110768131	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1003900	110768131	60346936	135	566											
RSPH4A	345895	genome.wustl.edu	37	chr6	116938393	116938393	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgggggctctgaagtgGcccccagcatgcttgagatc	14	13	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:116938393G>C	ENST00000229554.5	+	1	744	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A203P|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A203P	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	203					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTGAAGTGGCCCCCAGCAT	0.478									Kartagener syndrome																																								0								ENSG00000111834						71	84	80					6																	116938393		2203	4300	6503	RSPH4A	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.607G>C	6.37:g.116938393G>C	ENSP00000229554:p.Ala203Pro	Somatic	0	44	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP							pfam_Radial_spoke	p.A203P	ENST00000229554.5	37	c.607	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403050	0.25291	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.67698	-0.28;1.35;1.26	5.27	1.43	0.22495	.	0.547984	0.16830	N	0.197789	T	0.41119	0.1145	L	0.45137	1.4	0.09310	N	0.999996	B;P	0.52316	0.091;0.952	B;P	0.49301	0.018;0.606	T	0.24512	-1.0158	10	0.33940	T	0.23	-1.1924	4.0127	0.09629	0.175:0.0:0.4953:0.3297	.	203;203	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	P	203	ENSP00000357570:A203P;ENSP00000229554:A203P;ENSP00000357569:A203P	ENSP00000229554:A203P	A	+	1	0	RSPH4A	117045086	0.000000	0.05858	0.092000	0.20876	0.006000	0.05464	0.179000	0.16840	0.078000	0.16900	-0.518000	0.04402	GCC	-	NULL		0.478	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	protein_coding	OTTHUMT00000041960.1	G	NM_001010892	-		116938393	1	no_errors	ENST00000229554	ensembl	human	known	74_37	missense	SNP	0.136	C	C	116938393	G	C	116938393	3	2	9	1	0	0	0	0	1	0	0	0	13714	1203	42	4	609	4	RSPH4A	6	116938393	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	6170262	116938393	54176674	136	567											
CENPW	387103	genome.wustl.edu	37	chr6	126661509	126661509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtcttcaagcgaaagaaGcctcaacttcgtctggagaa	10	10	4	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:126661509G>A	ENST00000368328.4	+	1	190	c.90G>A	c.(88-90)aaG>aaA	p.K30K	CENPW_ENST00000368326.1_Silent_p.K30K|CENPW_ENST00000368325.1_Silent_p.K30K			Q5EE01	CENPW_HUMAN	centromere protein W	30					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						AGCGAAAGAAGCCTCAACTTC	0.522																																																	0								ENSG00000203760						87	81	83					6																	126661509		2203	4300	6503	CENPW	SO:0001819	synonymous_variant	0			-	HGNC	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.90G>A	6.37:g.126661509G>A		Somatic	0	101	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	69	10.39	A6NIR0|A6NJC2	Silent	SNP							NULL	p.K30	ENST00000368328.4	37	c.90	CCDS34529.1	6																																																																																			-	NULL		0.522	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPW	protein_coding	OTTHUMT00000042104.1	G		-		126661509	1	no_errors	ENST00000368325	ensembl	human	known	74_37	silent	SNP	0.999	A	A	126661509	G	A	126661509	2	1	9	1	0	0	0	0	0	0	0	1	3246	962	34	2		2	CENPW	6	126661509	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	9723116	126661509	44453558	137	568											
PTPRK	5796	genome.wustl.edu	37	chr6	128306968	128306968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagggcactccatggtcaGgccagcccgtgaaatggaac	14	11	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:128306968G>A	ENST00000368215.3	-	22	3145	c.3146C>T	c.(3145-3147)cCt>cTt	p.P1049L	PTPRK_ENST00000368207.3_Missense_Mutation_p.P1082L|PTPRK_ENST00000532331.1_Missense_Mutation_p.P1072L|PTPRK_ENST00000368213.5_Missense_Mutation_p.P1056L|PTPRK_ENST00000368227.3_Missense_Mutation_p.P1067L|PTPRK_ENST00000368210.3_Missense_Mutation_p.P1068L|PTPRK_ENST00000368226.4_Missense_Mutation_p.P1050L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1049	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCATGGTCAGGCCAGCCCGT	0.483																																																	0								ENSG00000152894						142	136	138					6																	128306968		2203	4300	6503	PTPRK	SO:0001583	missense	0			-	HGNC	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3146C>T	6.37:g.128306968G>A	ENSP00000357198:p.Pro1049Leu	Somatic	0	56	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P1067L	ENST00000368215.3	37	c.3200		6	.	.	.	.	.	.	.	.	.	.	G	32	5.188999	0.94923	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.97	5.97	0.96955	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.997;0.996	T	0.82232	-0.0559	10	0.87932	D	0	.	20.4251	0.99070	0.0:0.0:1.0:0.0	.	1072;1056;1049;1050	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	L	1050;1067;1072;1056;1068;1049;1082	ENSP00000357209:P1050L;ENSP00000357210:P1067L;ENSP00000432973:P1072L;ENSP00000357196:P1056L;ENSP00000357193:P1068L;ENSP00000357198:P1049L;ENSP00000357190:P1082L	ENSP00000357190:P1082L	P	-	2	0	PTPRK	128348661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.829000	0.97493	0.650000	0.86243	CCT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	protein_coding	OTTHUMT00000042163.1	G		-		128306968	-1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128306968	G	A	128306968	3	1	9	1	0	0	0	0	1	0	0	0	12813	1000	35	2	1209	2	PTPRK	6	128306968	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1645459	128306968	42808099	138	569											
MLLT4	4301	genome.wustl.edu	37	chr6	168352571	168352571	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagcaaagaggagcttTcctcgggggacagtctgtcc	13	11	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:168352571T>A	ENST00000447894.2	+	29	4516	c.4516T>A	c.(4516-4518)Tcc>Acc	p.S1506T	MLLT4_ENST00000351017.4_Missense_Mutation_p.S1513T|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1489T|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1506T|MLLT4_ENST00000366806.2_Missense_Mutation_p.S1506T|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1505T|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1506T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1506					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)		AGAGGAGCTTTCCTCGGGGGA	0.597			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0								ENSG00000130396						37	43	41					6																	168352571		2203	4300	6503	MLLT4	SO:0001583	missense	0			-	HGNC	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.4516T>A	6.37:g.168352571T>A	ENSP00000404595:p.Ser1506Thr	Somatic	0	18	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP							pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S1506T	ENST00000447894.2	37	c.4516		6	.	.	.	.	.	.	.	.	.	.	T	5.587	0.293143	0.10567	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04551	3.81;3.69;3.8;3.78;3.6;3.69;3.69	5.19	2.74	0.32292	.	0.396377	0.26251	N	0.025441	T	0.01489	0.0048	L	0.41027	1.25	0.28344	N	0.9212	B;B;B;B	0.19331	0.021;0.035;0.016;0.016	B;B;B;B	0.16289	0.01;0.015;0.015;0.015	T	0.46233	-0.9206	10	0.21540	T	0.41	0.2295	12.1296	0.53936	0.0:0.0:0.2842:0.7158	.	1506;1505;1506;1490	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	1506;1513;1506;1506;1489;1506;1505;1506	ENSP00000341118:S1506T;ENSP00000252692:S1513T;ENSP00000375956:S1506T;ENSP00000355771:S1506T;ENSP00000375960:S1489T;ENSP00000383623:S1505T;ENSP00000404595:S1506T	ENSP00000345834:S1506T	S	+	1	0	MLLT4	168095420	0.900000	0.30661	0.021000	0.16686	0.200000	0.23975	1.250000	0.32850	0.277000	0.22141	0.533000	0.62120	TCC	-	NULL		0.597	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	protein_coding	OTTHUMT00000372077.1	T	NM_005936	-		168352571	1	no_errors	ENST00000366806	ensembl	human	known	74_37	missense	SNP	0.172	A	A	168352571	T	A	168352571	3	1	9	1	0	0	0	0	1	0	0	0	9631	1783	62	5	4630	5	MLLT4	6	168352571	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	40045603	168352571	2762496	139	570											
SNX8	29886	genome.wustl.edu	37	chr7	2296591	2296591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagacgtggatgagctgcGtctcctggtgcaggcagtac	16	9	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:2296591G>A	ENST00000222990.3	-	10	1244	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	401					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GATGAGCTGCGTCTCCTGGTG	0.622																																																	0								ENSG00000106266						186	122	144					7																	2296591		2203	4300	6503	SNX8	SO:0001583	missense	0			-	HGNC	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1202C>T	7.37:g.2296591G>A	ENSP00000222990:p.Thr401Met	Somatic	0	62	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	51	37.80	A4D207|Q96I67	Missense_Mutation	SNP							pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.T401M	ENST00000222990.3	37	c.1202	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226740	0.58668	.	.	ENSG00000106266	ENST00000222990	.	.	.	5.3	4.42	0.53409	.	0.055880	0.64402	N	0.000001	T	0.46658	0.1404	L	0.46157	1.445	0.45015	D	0.998035	P	0.34462	0.454	B	0.23419	0.046	T	0.41342	-0.9514	9	0.31617	T	0.26	.	13.8372	0.63417	0.0739:0.0:0.9261:0.0	.	401	Q9Y5X2	SNX8_HUMAN	M	401	.	ENSP00000222990:T401M	T	-	2	0	SNX8	2263117	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.950000	0.63603	1.250000	0.43966	0.561000	0.74099	ACG	-	NULL		0.622	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX8	protein_coding	OTTHUMT00000322949.2	G		-		2296591	-1	no_errors	ENST00000222990	ensembl	human	known	74_37	missense	SNP	0.995	A	A	2296591	G	A	2296591	3	1	9	1	0	0	0	0	1	0	0	0	14916	1145	40	1	203	1	SNX8	7	2296591	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		2296591	156842072	140	571											
CHN2	1124	genome.wustl.edu	37	chr7	29438038	29438038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgagcttcttggaggcGtggagggtgcctacatcctt	15	9	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:29438038G>A	ENST00000222792.6	+	5	756	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	CHN2_ENST00000546235.1_Missense_Mutation_p.V61M|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.V89M|CHN2_ENST00000539406.1_Missense_Mutation_p.V151M|CHN2_ENST00000435288.2_Missense_Mutation_p.V76M	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	76	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCTTGGAGGCGTGGAGGGTGC	0.512																																					Ovarian(1;44 48 13232 18918 31480)												0								ENSG00000106069						156	131	139					7																	29438038		2203	4300	6503	CHN2	SO:0001583	missense	0			-	HGNC	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.226G>A	7.37:g.29438038G>A	ENSP00000222792:p.Val76Met	Somatic	0	16	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.V151M	ENST00000222792.6	37	c.451	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173675	0.38413	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.44	5.44	0.79542	SH2 motif (4);	0.582667	0.19305	N	0.117524	T	0.81403	0.4815	L	0.39898	1.24	0.80722	D	1	B;B;P;B;B	0.38167	0.009;0.018;0.621;0.133;0.133	B;B;B;B;B	0.22601	0.021;0.007;0.035;0.018;0.04	T	0.82297	-0.0527	10	0.51188	T	0.08	.	12.2513	0.54599	0.0791:0.0:0.9209:0.0	.	61;89;151;76;76	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	M	151;151;76;76;89;89;61	ENSP00000409843:V151M;ENSP00000444063:V151M;ENSP00000222792:V76M;ENSP00000400282:V76M;ENSP00000386968:V89M;ENSP00000438587:V89M;ENSP00000442812:V61M	ENSP00000222792:V76M	V	+	1	0	CHN2	29404563	1.000000	0.71417	0.937000	0.37676	0.556000	0.35491	3.621000	0.54210	2.553000	0.86117	0.467000	0.42956	GTG	-	pfam_SH2,smart_SH2,pfscan_SH2		0.512	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	protein_coding	OTTHUMT00000214228.2	G	NM_004067	-		29438038	1	no_errors	ENST00000539406	ensembl	human	known	74_37	missense	SNP	0.855	A	A	29438038	G	A	29438038	3	1	9	1	0	0	0	0	1	0	0	0	3365	1145	40	1	244	1	CHN2	7	29438038	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	27141447	29438038	129700625	141	572											
BMPER	168667	genome.wustl.edu	37	chr7	34094854	34094854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggctgttgtgaagagtGcctcctacgagtgcccccag	15	11	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:34094854G>A	ENST00000297161.2	+	10	1240	c.866G>A	c.(865-867)tGc>tAc	p.C289Y	BMPER_ENST00000426693.1_Missense_Mutation_p.C289Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	289	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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						TGTGAAGAGTGCCTCCTACGA	0.512																																																	0								ENSG00000164619						120	114	116					7																	34094854		2203	4300	6503	BMPER	SO:0001583	missense	0			-	HGNC		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.866G>A	7.37:g.34094854G>A	ENSP00000297161:p.Cys289Tyr	Somatic	0	57	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	A8K1P8|Q8TF36	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.C289Y	ENST00000297161.2	37	c.866	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511997	0.85389	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.72942	-0.7;-0.7	6.06	6.06	0.98353	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88425	0.3031	10	0.87932	D	0	.	20.6186	0.99473	0.0:0.0:1.0:0.0	.	289	Q8N8U9	BMPER_HUMAN	Y	289	ENSP00000297161:C289Y;ENSP00000393950:C289Y	ENSP00000297161:C289Y	C	+	2	0	BMPER	34061379	1.000000	0.71417	0.994000	0.49952	0.678000	0.39670	8.435000	0.90297	2.876000	0.98609	0.643000	0.83706	TGC	-	smart_VWF_C		0.512	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	protein_coding	OTTHUMT00000250570.2	G	NM_133468	-		34094854	1	no_errors	ENST00000297161	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34094854	G	A	34094854	3	1	9	1	0	0	0	0	1	0	0	0	1468	1319	46	2	900	2	BMPER	7	34094854	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4656816	34094854	125043809	142	573											
ANLN	54443	genome.wustl.edu	37	chr7	36458929	36458929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaattaatgacctcttcagTgatgtcctagaggaaggtga	11	6	2	4			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:36458929T>C	ENST00000265748.2	+	10	1931	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	ANLN_ENST00000396068.2_Silent_p.S533S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	570	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACCTCTTCAGTGATGTCCTAG	0.388																																																	0								ENSG00000011426						140	123	128					7																	36458929		2203	4300	6503	ANLN	SO:0001819	synonymous_variant	0			-	HGNC	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1710T>C	7.37:g.36458929T>C		Somatic	0	45	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S570	ENST00000265748.2	37	c.1710	CCDS5447.1	7																																																																																			-	NULL		0.388	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	protein_coding	OTTHUMT00000218582.3	T	NM_018685	-		36458929	1	no_errors	ENST00000265748	ensembl	human	known	74_37	silent	SNP	1.000	C	C	36458929	T	C	36458929	2	2	9	1	0	0	0	0	0	0	0	1	694	1693	59	5		5	ANLN	7	36458929	Silent	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	2364075	36458929	122679734	143	574											
AEBP1	165	genome.wustl.edu	37	chr7	44152925	44152925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgccaccatctctgtgagTggcattaatcacggcgtgaa	10	11	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:44152925T>C	ENST00000223357.3	+	20	3089	c.2784T>C	c.(2782-2784)agT>agC	p.S928S	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.S503S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	928	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCTCTGTGAGTGGCATTAATC	0.597																																																	0								ENSG00000106624						80	61	67					7																	44152925		2203	4299	6502	AEBP1	SO:0001819	synonymous_variant	0			-	HGNC	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2784T>C	7.37:g.44152925T>C		Somatic	0	20	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	9	57.14	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP							pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.S928	ENST00000223357.3	37	c.2784	CCDS5476.1	7																																																																																			-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	protein_coding	OTTHUMT00000250993.2	T	NM_001129	-		44152925	1	no_errors	ENST00000223357	ensembl	human	known	74_37	silent	SNP	0.856	C	C	44152925	T	C	44152925	2	2	9	1	0	0	0	0	0	0	0	1	349	1693	59	5		5	AEBP1	7	44152925	Silent	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	7693996	44152925	114985738	144	575											
LIMK1	3984	genome.wustl.edu	37	chr7	73511493	73511493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacggggacacctacacGctggtggagcactccaagct	14	12	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:73511493G>A	ENST00000336180.2	+	4	426	c.375G>A	c.(373-375)acG>acA	p.T125T	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Silent_p.T91T|LIMK1_ENST00000418310.1_Silent_p.T155T	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	125	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	ACACCTACACGCTGGTGGAGC	0.622																																																	0								ENSG00000106683						93	59	71					7																	73511493		2203	4300	6503	LIMK1	SO:0001819	synonymous_variant	0			-	HGNC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.375G>A	7.37:g.73511493G>A		Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T125	ENST00000336180.2	37	c.375	CCDS5563.1	7																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.622	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	protein_coding	OTTHUMT00000252335.2	G	NM_002314	-		73511493	1	no_errors	ENST00000336180	ensembl	human	known	74_37	silent	SNP	0.022	A	A	73511493	G	A	73511493	2	1	9	1	0	0	0	0	0	0	0	1	8803	1074	38	1		1	LIMK1	7	73511493	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	29358568	73511493	85627170	145	576											
PCLO	27445	genome.wustl.edu	37	chr7	82581542	82581542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagactcatccattgttacGactgttctgtgagacttggt	10	8	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:82581542G>A	ENST00000333891.9	-	5	9064	c.8727C>T	c.(8725-8727)gtC>gtT	p.V2909V	PCLO_ENST00000423517.2_Silent_p.V2909V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V2909V(2)|p.V2840V(1)		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						CCATTGTTACGACTGTTCTGT	0.448																																																	3	Substitution - coding silent(3)	large_intestine(3)						ENSG00000186472						207	196	199					7																	82581542		1965	4152	6117	PCLO	SO:0001819	synonymous_variant	0			-	HGNC	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.8727C>T	7.37:g.82581542G>A		Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	24	42.86		Silent	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V2909	ENST00000333891.9	37	c.8727	CCDS47630.1	7																																																																																			-	NULL		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82581542	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	SNP	0.808	A	A	82581542	G	A	82581542	2	1	9	1	0	0	0	0	0	0	0	1	11585	1045	37	1		1	PCLO	7	82581542	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	9070049	82581542	76557121	146	577											
SEMA3D	223117	genome.wustl.edu	37	chr7	84651785	84651785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctgtgtcagtctgtaatCcacattgattctcttgaacg	7	9	4	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:84651785C>T	ENST00000284136.6	-	11	1379	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	446	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTCTGTAATCCACATTGATT	0.418																																					Ovarian(63;442 1191 17318 29975 31528)												0								ENSG00000153993						277	244	255					7																	84651785		2203	4300	6503	SEMA3D	SO:0001583	missense	0			-	HGNC	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1336G>A	7.37:g.84651785C>T	ENSP00000284136:p.Asp446Asn	Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	39	35.00	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D446N	ENST00000284136.6	37	c.1336	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816667	0.70912	.	.	ENSG00000153993	ENST00000284136	T	0.09911	2.93	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.042855	0.85682	D	0.000000	T	0.16896	0.0406	N	0.21508	0.67	0.80722	D	1	D	0.54601	0.967	P	0.55785	0.784	T	0.05616	-1.0874	10	0.23891	T	0.37	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	446	O95025	SEM3D_HUMAN	N	446	ENSP00000284136:D446N	ENSP00000284136:D446N	D	-	1	0	SEMA3D	84489721	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.773000	0.85462	2.664000	0.90586	0.557000	0.71058	GAT	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.418	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	protein_coding	OTTHUMT00000336084.2	C	NM_152754	-		84651785	-1	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84651785	C	T	84651785	3	4	9	1	0	0	0	0	1	0	0	0	14035	855	30	2	1025	2	SEMA3D	7	84651785	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2070243	84651785	74486878	147	578											
CCDC132	55610	genome.wustl.edu	37	chr7	92902025	92902025	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaggttcaacaagcttatCgacttcttggaaaaacacag	7	10	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:92902025C>T	ENST00000305866.5	+	11	909	c.781C>T	c.(781-783)Cga>Tga	p.R261*	CCDC132_ENST00000251739.5_Nonsense_Mutation_p.R261*|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.R72*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Nonsense_Mutation_p.R231*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	261						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAAGCTTATCGACTTCTTGG	0.323																																																	0								ENSG00000004766						77	74	75					7																	92902025		2203	4298	6501	CCDC132	SO:0001587	stop_gained	0			-	HGNC	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.781C>T	7.37:g.92902025C>T	ENSP00000307666:p.Arg261*	Somatic	0	40	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	47	27.69	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP							pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.R261*	ENST00000305866.5	37	c.781	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414318	0.83449	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136	.	.	.	5.64	2.63	0.31362	.	0.121474	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-24.1895	14.5196	0.67842	0.5412:0.4588:0.0:0.0	.	.	.	.	X	261;261;231;72	.	ENSP00000251739:R261X	R	+	1	2	CCDC132	92739961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.001000	0.49488	0.826000	0.34661	-0.158000	0.13435	CGA	-	pfam_Vacuolar_sorting-assoc_54		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	protein_coding	OTTHUMT00000341687.1	C	NM_017667	-		92902025	1	no_errors	ENST00000305866	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	92902025	C	T	92902025	4	4	9	1	0	0	0	0	0	1	0	0	2769	876	31	1	823	1	CCDC132	7	92902025	Nonsense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	8250240	92902025	66236638	148	579											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94540337	94540337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagagcaaggaacccgaGgactccacatctaatcaaca	8	13	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:94540337G>T	ENST00000433881.1	+	2	1444	c.912G>T	c.(910-912)gaG>gaT	p.E304D	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E304D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E304D|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E304D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E304D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E304D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	304					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)				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)			AGGAACCCGAGGACTCCACAT	0.473										HNSCC(28;0.073)																																							0								ENSG00000158528						52	50	50					7																	94540337		2203	4300	6503	PPP1R9A	SO:0001583	missense	0			-	HGNC	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.912G>T	7.37:g.94540337G>T	ENSP00000398870:p.Glu304Asp	Somatic	0	59	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP							pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E304D	ENST00000433881.1	37	c.912	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	1.861	-0.462638	0.04508	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.73	2.97	0.34412	.	0.813661	0.11613	N	0.546588	D	0.90249	0.6951	L	0.50333	1.59	0.09310	N	0.999996	B;B;P;B;B	0.36465	0.002;0.185;0.554;0.001;0.0	B;B;B;B;B	0.38562	0.002;0.091;0.276;0.001;0.001	T	0.80091	-0.1527	9	.	.	.	.	7.7141	0.28694	0.1947:0.1178:0.6875:0.0	.	304;304;304;304;304	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	D	304	ENSP00000405514:E304D;ENSP00000344524:E304D;ENSP00000411342:E304D;ENSP00000398870:E304D;ENSP00000289495:E304D;ENSP00000402893:E304D	.	E	+	3	2	PPP1R9A	94378273	1.000000	0.71417	0.409000	0.26459	0.002000	0.02628	1.558000	0.36309	0.456000	0.26937	-0.806000	0.03193	GAG	-	NULL		0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	protein_coding	OTTHUMT00000340662.1	G	NM_001166160	-		94540337	1	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	SNP	0.225	T	T	94540337	G	T	94540337	3	4	9	1	0	0	0	0	1	0	0	0	12383	991	35	3	914	3	PPP1R9A	7	94540337	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1638312	94540337	64598326	149	580											
GNB2	2783	genome.wustl.edu	37	chr7	100276034	100276034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagttcttccccaacgGctacgccttcaccaccggct	7	19	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:100276034G>A	ENST00000303210.4	+	9	1195	c.713G>A	c.(712-714)gGc>gAc	p.G238D	GNB2_ENST00000419828.1_Missense_Mutation_p.G138D|GNB2_ENST00000436220.1_Missense_Mutation_p.G194D|GNB2_ENST00000393924.1_Missense_Mutation_p.G238D|GNB2_ENST00000427895.1_Missense_Mutation_p.G138D|GNB2_ENST00000393926.1_Missense_Mutation_p.G238D|GNB2_ENST00000424361.1_Missense_Mutation_p.G194D	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	238					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TTCCCCAACGGCTACGCCTTC	0.657																																																	0								ENSG00000172354						41	42	42					7																	100276034		2203	4300	6503	GNB2	SO:0001583	missense	0			-	HGNC	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.713G>A	7.37:g.100276034G>A	ENSP00000305260:p.Gly238Asp	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B3KPU1|P11016|P54312	Missense_Mutation	SNP							pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G238D	ENST00000303210.4	37	c.713	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	23.0	4.358771	0.82243	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;D;D;D;D;T;T	0.84730	4.5;4.5;-1.89;-1.89;-1.89;-1.89;4.5;4.5	4.99	4.99	0.66335	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	0.91088	0.7195	M	0.65677	2.01	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.91862	0.5500	10	0.87932	D	0	-16.3584	15.8753	0.79156	0.0:0.0:1.0:0.0	.	238	P62879	GBB2_HUMAN	D	238;238;194;194;138;138;238;238	ENSP00000305260:G238D;ENSP00000399904:G238D;ENSP00000401873:G194D;ENSP00000389391:G194D;ENSP00000390543:G138D;ENSP00000400286:G138D;ENSP00000377503:G238D;ENSP00000377501:G238D	ENSP00000305260:G238D	G	+	2	0	GNB2	100113970	1.000000	0.71417	0.993000	0.49108	0.823000	0.46562	9.869000	0.99810	2.612000	0.88384	0.555000	0.69702	GGC	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	protein_coding	OTTHUMT00000268391.2	G	NM_005273	-		100276034	1	no_errors	ENST00000303210	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100276034	G	A	100276034	3	1	9	1	0	0	0	0	1	0	0	0	6519	1203	42	2	743	2	GNB2	7	100276034	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	5735697	100276034	58862629	150	581											
SLC26A5	375611	genome.wustl.edu	37	chr7	103019780	103019780	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttattccaggaatttctttCacctgaagagtaaaatattg	6	6	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:103019780C>T	ENST00000306312.3	-	16	1848	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V	SLC26A5_ENST00000432958.2_Silent_p.V497V|SLC26A5_ENST00000339444.6_Silent_p.V529V|SLC26A5_ENST00000393727.1_Silent_p.V529V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Silent_p.V497V|SLC26A5_ENST00000393730.1_Silent_p.V497V|SLC26A5_ENST00000393729.1_Silent_p.V492V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	529	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAATTTCTTTCACCTGAAGAG	0.323																																																	0								ENSG00000170615						56	56	56					7																	103019780		2202	4297	6499	SLC26A5	SO:0001819	synonymous_variant	0			-	HGNC	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1587G>A	7.37:g.103019780C>T		Somatic	0	50	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V529	ENST00000306312.3	37	c.1587	CCDS5733.1	7																																																																																			-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.323	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	protein_coding	OTTHUMT00000313860.1	C	NM_198999	-		103019780	-1	no_errors	ENST00000306312	ensembl	human	known	74_37	silent	SNP	1.000	T	T	103019780	C	T	103019780	2	4	9	1	0	0	0	0	0	0	0	1	14528	813	29	2		2	SLC26A5	7	103019780	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2743746	103019780	56118883	151	582											
ATXN7L1	222255	genome.wustl.edu	37	chr7	105254570	105254570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggagtcactgctgccTcccaccgcgcccacctgtct	10	18	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:105254570T>C	ENST00000419735.3	-	10	2256	c.2211A>G	c.(2209-2211)ggA>ggG	p.G737G	ATXN7L1_ENST00000477775.1_Silent_p.G613G|ATXN7L1_ENST00000388807.4_Silent_p.G397G	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	737	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CACTGCTGCCTCCCACCGCGC	0.657																																																	0								ENSG00000146776						39	42	41					7																	105254570		692	1591	2283	ATXN7L1	SO:0001819	synonymous_variant	0			-	HGNC	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.2211A>G	7.37:g.105254570T>C		Somatic	0	20	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP							pfam_SCA7_dom	p.G737	ENST00000419735.3	37	c.2211	CCDS47682.1	7																																																																																			-	NULL		0.657	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	protein_coding	OTTHUMT00000349037.2	T		-		105254570	-1	no_errors	ENST00000419735	ensembl	human	known	74_37	silent	SNP	0.994	C	C	105254570	T	C	105254570	2	2	9	1	0	0	0	0	0	0	0	1	1216	1538	54	5		5	ATXN7L1	7	105254570	Silent	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	2234790	105254570	53884093	152	583											
LAMB4	22798	genome.wustl.edu	37	chr7	107743555	107743555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaggggtctgcagcggtCgcagtgctgcccctcagtgt	16	11	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:107743555C>T	ENST00000388781.3	-	10	1197	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	LAMB4_ENST00000388780.3_Missense_Mutation_p.D372N|LAMB4_ENST00000414450.2_Missense_Mutation_p.D372N|LAMB4_ENST00000418464.1_Missense_Mutation_p.D372N|LAMB4_ENST00000205386.4_Missense_Mutation_p.D372N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	372	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCAGCGGTCGCAGTGCTGC	0.617																																																	0								ENSG00000091128						64	55	58					7																	107743555		2203	4300	6503	LAMB4	SO:0001583	missense	0			-	HGNC	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1114G>A	7.37:g.107743555C>T	ENSP00000373433:p.Asp372Asn	Somatic	0	48	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D372N	ENST00000388781.3	37	c.1114	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057614	0.76074	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.3	0.0707	0.14379	EGF-like, laminin (4);	0.497510	0.18029	N	0.153964	T	0.61198	0.2328	L	0.43701	1.375	0.39014	D	0.959604	D	0.57571	0.98	P	0.48704	0.587	T	0.68390	-0.5421	10	0.87932	D	0	.	16.4466	0.83936	0.0:0.4904:0.5096:0.0	.	372	A4D0S4	LAMB4_HUMAN	N	372	ENSP00000205386:D372N;ENSP00000373433:D372N;ENSP00000373432:D372N;ENSP00000402353:D372N;ENSP00000402265:D372N	ENSP00000205386:D372N	D	-	1	0	LAMB4	107530791	0.955000	0.32602	0.089000	0.20774	0.895000	0.52256	1.910000	0.39927	-0.097000	0.12307	-0.175000	0.13238	GAC	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.617	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	protein_coding	OTTHUMT00000337442.1	C	XM_209857	-		107743555	-1	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107743555	C	T	107743555	3	4	9	1	0	0	0	0	1	0	0	0	8615	884	31	1	4271	1	LAMB4	7	107743555	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2488985	107743555	51395108	153	584											
PNPLA8	50640	genome.wustl.edu	37	chr7	108154649	108154649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtcagttcttcaaccCtagtaatgcagagctttggg	10	8	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:108154649C>A	ENST00000422087.1	-	5	1551	c.1145G>T	c.(1144-1146)aGg>aTg	p.R382M	PNPLA8_ENST00000426128.2_Missense_Mutation_p.R382M|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R282M|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R382M|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R382M|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R382M	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	382					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTTCAACCCTAGTAATGCA	0.378																																																	0								ENSG00000135241						252	276	268					7																	108154649		2203	4300	6503	PNPLA8	SO:0001583	missense	0			-	HGNC	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1145G>T	7.37:g.108154649C>A	ENSP00000410804:p.Arg382Met	Somatic	0	72	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	51	32.00	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP							pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.R382M	ENST00000422087.1	37	c.1145	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185079	0.78677	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.50224	-0.8853	10	0.72032	D	0.01	.	18.503	0.90888	0.0:1.0:0.0:0.0	.	382	Q9NP80	PLPL8_HUMAN	M	382;382;382;382;282;382;282	ENSP00000394988:R382M;ENSP00000257694:R382M;ENSP00000373380:R382M;ENSP00000410804:R382M;ENSP00000387789:R282M;ENSP00000406779:R382M;ENSP00000402274:R282M	ENSP00000257694:R382M	R	-	2	0	PNPLA8	107941885	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.270000	0.78493	2.374000	0.81015	0.591000	0.81541	AGG	-	superfamily_ARM-type_fold		0.378	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	protein_coding	OTTHUMT00000337475.1	C	NM_015723	-		108154649	-1	no_errors	ENST00000257694	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108154649	C	A	108154649	3	1	9	1	0	0	0	0	1	0	0	0	12173	681	24	3	1235	3	PNPLA8	7	108154649	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	411094	108154649	50984014	154	585											
CUL1	8454	genome.wustl.edu	37	chr7	148463663	148463663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctccaggcagaggctcGtctgcttgaggaacaacgaa	11	10	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:148463663G>A	ENST00000325222.4	+	8	1079	c.800G>A	c.(799-801)cGt>cAt	p.R267H	CUL1_ENST00000409469.1_Missense_Mutation_p.R267H|CUL1_ENST00000602748.1_Missense_Mutation_p.R267H	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	267					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)			GCAGAGGCTCGTCTGCTTGAG	0.348																																																	0								ENSG00000055130						52	52	52					7																	148463663		2203	4300	6503	CUL1	SO:0001583	missense	0			-	HGNC	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.800G>A	7.37:g.148463663G>A	ENSP00000326804:p.Arg267His	Somatic	0	168	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	153	18.37	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R267H	ENST00000325222.4	37	c.800	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829772	0.91036	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.36340	1.26;1.26	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	H	0.97390	3.995	0.80722	D	1	P	0.47106	0.89	B	0.42798	0.398	T	0.78974	-0.1992	10	0.87932	D	0	0.4944	18.2561	0.90020	0.0:0.0:1.0:0.0	.	267	Q13616	CUL1_HUMAN	H	267;267;225;194	ENSP00000387160:R267H;ENSP00000326804:R267H	ENSP00000326804:R267H	R	+	2	0	CUL1	148094596	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.506000	0.97992	2.370000	0.80446	0.655000	0.94253	CGT	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	protein_coding	OTTHUMT00000467785.1	G	NM_003592	-		148463663	1	no_errors	ENST00000325222	ensembl	human	known	74_37	missense	SNP	1.000	A	A	148463663	G	A	148463663	3	1	9	1	0	0	0	0	1	0	0	0	4056	1145	40	1	826	1	CUL1	7	148463663	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	40309014	148463663	10675000	155	586											
CUL1	8454	genome.wustl.edu	37	chr7	148489822	148489822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggggggccgcaaaggcgtCgacattccagatggctatcc	14	11	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:148489822C>T	ENST00000325222.4	+	17	2090	c.1811C>T	c.(1810-1812)tCg>tTg	p.S604L	CUL1_ENST00000409469.1_Missense_Mutation_p.S604L|CUL1_ENST00000602748.1_Missense_Mutation_p.S604L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	604					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)			GCAAAGGCGTCGACATTCCAG	0.423																																																	0								ENSG00000055130						76	67	70					7																	148489822		2203	4300	6503	CUL1	SO:0001583	missense	0			-	HGNC	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.1811C>T	7.37:g.148489822C>T	ENSP00000326804:p.Ser604Leu	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S604L	ENST00000325222.4	37	c.1811	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	.	36	5.608656	0.96626	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.77620	-1.11;-1.11	5.37	5.37	0.77165	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.93838	0.7134	10	0.87932	D	0	-43.0752	19.1143	0.93331	0.0:1.0:0.0:0.0	.	531;604	E7EWR0;Q13616	.;CUL1_HUMAN	L	604;604;562;531	ENSP00000387160:S604L;ENSP00000326804:S604L	ENSP00000326804:S604L	S	+	2	0	CUL1	148120755	1.000000	0.71417	0.062000	0.19696	0.349000	0.29174	7.513000	0.81739	2.519000	0.84933	0.655000	0.94253	TCG	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology		0.423	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	protein_coding	OTTHUMT00000467785.1	C	NM_003592	-		148489822	1	no_errors	ENST00000325222	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148489822	C	T	148489822	3	4	9	1	0	0	0	0	1	0	0	0	4056	893	31	1	1873	1	CUL1	7	148489822	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	26159	148489822	10648841	156	587											
CHPF2	54480	genome.wustl.edu	37	chr7	150935093	150935093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggggtgaaggctgcaGcagcggagttagagcgacgg	18	7	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:150935093G>A	ENST00000035307.2	+	4	3158	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	CHPF2_ENST00000495645.1_Missense_Mutation_p.A541T|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	549					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GAAGGCTGCAGCAGCGGAGTT	0.632																																																	0								ENSG00000033100						44	42	43					7																	150935093		2203	4300	6503	CHPF2	SO:0001583	missense	0			-	HGNC	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1645G>A	7.37:g.150935093G>A	ENSP00000035307:p.Ala549Thr	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP							pfam_Chond_GalNAc,pfam_Fringe-like	p.A549T	ENST00000035307.2	37	c.1645	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316648	0.60524	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.17213	2.29;2.29	4.8	4.8	0.61643	.	0.272836	0.38837	N	0.001555	T	0.16041	0.0386	L	0.34521	1.04	0.33442	D	0.582559	P;B	0.39094	0.659;0.069	B;B	0.43301	0.415;0.015	T	0.12319	-1.0552	10	0.54805	T	0.06	-0.9278	8.9344	0.35691	0.1667:0.0:0.8333:0.0	.	549;541	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	T	541;549;549	ENSP00000418914:A541T;ENSP00000035307:A549T	ENSP00000035307:A549T	A	+	1	0	CHPF2	150566026	0.998000	0.40836	0.814000	0.32528	0.987000	0.75469	3.552000	0.53705	2.488000	0.83962	0.650000	0.86243	GCA	-	pfam_Chond_GalNAc		0.632	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	protein_coding	OTTHUMT00000348648.2	G	NM_019015	-		150935093	1	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	SNP	0.830	A	A	150935093	G	A	150935093	3	1	9	1	0	0	0	0	1	0	0	0	3371	971	34	2	1659	2	CHPF2	7	150935093	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2445271	150935093	8203570	157	588											
PAXIP1	22976	genome.wustl.edu	37	chr7	154755423	154755423	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactctcacagagaaggtgCgtgcatcgactcgtgaaggt	13	9	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:154755423C>A	ENST00000404141.1	-	9	2101	c.1947G>T	c.(1945-1947)acG>acT	p.T649T	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.T649T			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	649	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.T649T(1)|p.T615T(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AGAGAAGGTGCGTGCATCGAC	0.498																																																	2	Substitution - coding silent(2)	endometrium(2)						ENSG00000157212						59	65	63					7																	154755423		2048	4202	6250	PAXIP1	SO:0001819	synonymous_variant	0			-	HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1947G>T	7.37:g.154755423C>A		Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T649	ENST00000404141.1	37	c.1947	CCDS47753.1	7																																																																																			-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.498	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	C	NM_007349	-		154755423	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	silent	SNP	0.252	A	A	154755423	C	A	154755423	2	1	9	1	0	0	0	0	0	0	0	1	11489	755	27	3		3	PAXIP1	7	154755423	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3820330	154755423	4383240	158	589											
FAM86B1	85002	genome.wustl.edu	37	chr8	12042940	12042940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggacggtaaaggccacGtagacctcaggagcccgctt	13	12	1	1	rs200121631		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:12042940G>A	ENST00000448228.2	-	6	784	c.735C>T	c.(733-735)taC>taT	p.Y245Y	FAM86B1_ENST00000321602.8_Silent_p.Y51Y|FAM86B1_ENST00000534520.1_3'UTR|FAM86B1_ENST00000533852.2_Silent_p.Y279Y	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	245										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TAAAGGCCACGTAGACCTCAG	0.657																																																	0								ENSG00000186523						17	22	20					8																	12042940		1390	2532	3922	FAM86B1	SO:0001819	synonymous_variant	0			-	HGNC	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.735C>T	8.37:g.12042940G>A		Somatic	0	205	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	193	12.27		Missense_Mutation	SNP							NULL	p.T85M	ENST00000448228.2	37	c.254	CCDS59512.1	8																																																																																			-	NULL		0.657	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	protein_coding	OTTHUMT00000383317.1	G	NM_032916	rs200121631		12042940	-1	no_errors	ENST00000527300	ensembl	human	known	74_37	missense	SNP	0.761	A	A	12042940	G	A	12042940	2	1	9	1	0	0	0	0	0	0	0	1	5646	1140	40	1		1	FAM86B1	8	12042940	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		12042940	134321082	159	590											
CSGALNACT1	55790	genome.wustl.edu	37	chr8	19363317	19363317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacccgggaaatccacGcaagcagcccccggcgaacc	9	20	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:19363317G>A	ENST00000454498.2	-	4	1042	c.29C>T	c.(28-30)gCg>gTg	p.A10V	CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A10V|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A10V|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A10V|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A10V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	10					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGAAATCCACGCAAGCAGCCC	0.607																																																	0								ENSG00000147408						99	104	102					8																	19363317		2203	4300	6503	CSGALNACT1	SO:0001583	missense	0			-	HGNC	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.29C>T	8.37:g.19363317G>A	ENSP00000411816:p.Ala10Val	Somatic	0	27	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP							pfam_Chond_GalNAc	p.A10V	ENST00000454498.2	37	c.29	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443495	0.43429	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003;ENST00000524213	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.84	3.12	0.35913	.	0.291697	0.37304	N	0.002143	T	0.19765	0.0475	L	0.48642	1.525	0.33732	D	0.618387	B	0.11235	0.004	B	0.09377	0.004	T	0.12243	-1.0555	10	0.42905	T	0.14	-10.1591	5.7284	0.18026	0.2468:0.3384:0.4149:0.0	.	10	Q8TDX6	CGAT1_HUMAN	V	10	ENSP00000411816:A10V;ENSP00000330805:A10V;ENSP00000310891:A10V;ENSP00000429809:A10V;ENSP00000442155:A10V	ENSP00000310891:A10V	A	-	2	0	CSGALNACT1	19407597	0.906000	0.30813	0.575000	0.28536	0.993000	0.82548	2.856000	0.48341	0.409000	0.25649	0.655000	0.94253	GCG	-	NULL		0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	protein_coding	OTTHUMT00000375204.1	G	NM_018371	-		19363317	-1	no_errors	ENST00000311540	ensembl	human	known	74_37	missense	SNP	0.905	A	A	19363317	G	A	19363317	3	1	9	1	0	0	0	0	1	0	0	0	3940	1087	38	1	1597	1	CSGALNACT1	8	19363317	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7320377	19363317	127000705	160	591											
FGF17	8822	genome.wustl.edu	37	chr8	21905620	21905620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagccgccagaaccagcgcGaggcccacttcatcaagcgc	11	17	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:21905620G>A	ENST00000359441.3	+	5	1014	c.511G>A	c.(511-513)Gag>Aag	p.E171K	FGF17_ENST00000518533.1_Missense_Mutation_p.E160K|FGF17_ENST00000521709.1_3'UTR	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	171					cell-cell signaling (GO:0007267)|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)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GAACCAGCGCGAGGCCCACTT	0.682																																																	0								ENSG00000158815						25	26	26					8																	21905620		2203	4300	6503	FGF17	SO:0001583	missense	0			-	HGNC	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.511G>A	8.37:g.21905620G>A	ENSP00000352414:p.Glu171Lys	Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B7ZLG4|Q2M2W1	Missense_Mutation	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.E171K	ENST00000359441.3	37	c.511	CCDS6019.1	8	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014975	0.54468	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	T;T	0.81163	-1.46;-1.46	5.06	4.17	0.49024	.	0.059974	0.64402	D	0.000004	T	0.78457	0.4286	M	0.85373	2.75	0.53688	D	0.99997	B;P	0.39759	0.125;0.687	B;B	0.36186	0.027;0.219	T	0.75863	-0.3167	10	0.18276	T	0.48	-31.4832	10.5159	0.44889	0.0947:0.0:0.9053:0.0	.	160;171	O60258-2;O60258	.;FGF17_HUMAN	K	160;171	ENSP00000431041:E160K;ENSP00000352414:E171K	ENSP00000352414:E171K	E	+	1	0	FGF17	21961566	1.000000	0.71417	0.814000	0.32528	0.092000	0.18411	7.394000	0.79862	2.362000	0.80069	0.655000	0.94253	GAG	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam		0.682	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF17	protein_coding	OTTHUMT00000214154.2	G	NM_003867	-		21905620	1	no_errors	ENST00000359441	ensembl	human	known	74_37	missense	SNP	0.995	A	A	21905620	G	A	21905620	3	1	9	1	0	0	0	0	1	0	0	0	5847	1059	37	1	529	1	FGF17	8	21905620	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2542303	21905620	124458402	161	592											
SFTPC	649	genome.wustl.edu	37	chr8	22020665	22020665	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcacctggttaccactGccaccttctccatcggctcc	8	17	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:22020665G>A	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.A92T|SFTPC_ENST00000521315.1_Missense_Mutation_p.A92T|SFTPC_ENST00000318561.3_Missense_Mutation_p.A92T|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000520605.1_Missense_Mutation_p.A39T|SFTPC_ENST00000524255.1_Missense_Mutation_p.A39T|SFTPC_ENST00000437090.2_Missense_Mutation_p.A92T	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTTACCACTGCCACCTTCTC	0.617																																																	0								ENSG00000168484						83	94	90					8																	22020665		2122	4236	6358	SFTPC	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020665G>A	Exception_encountered	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP							pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom	p.A92T	ENST00000306385.5	37	c.274	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373819	0.82573	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	4.68	3.73	0.42828	Surfactant protein C, N-terminal propeptide (1);	0.139283	0.33457	N	0.004891	D	0.95582	0.8564	L	0.60455	1.87	0.39284	D	0.964616	P;D;D;D;D	0.76494	0.956;0.964;0.964;0.987;0.999	P;P;P;P;D	0.85130	0.722;0.817;0.762;0.817;0.997	D	0.94736	0.7914	10	0.51188	T	0.08	-3.5113	9.5489	0.39297	0.0:0.0:0.7905:0.2095	.	92;92;92;92;92	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	T	92;92;92;39;92;39;39;92	ENSP00000316152:A92T;ENSP00000430410:A92T;ENSP00000407931:A92T;ENSP00000430266:A39T;ENSP00000429496:A92T;ENSP00000429552:A39T;ENSP00000429619:A39T;ENSP00000428817:A92T	ENSP00000316152:A92T	A	+	1	0	SFTPC	22076610	0.977000	0.34250	0.999000	0.59377	0.615000	0.37417	2.770000	0.47662	2.574000	0.86865	0.655000	0.94253	GCC	-	pfam_Surfactant_protein_propep,smart_Pulm_surfact_AP		0.617	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPC	protein_coding	OTTHUMT00000214995.2	G	NM_006132	-		22020665	1	no_errors	ENST00000318561	ensembl	human	known	74_37	missense	SNP	0.993	A	A	22020665	G	A	22020665	1	1	9	0	1	0	0	0	0	0	0	0	14200	1319	46	2		2	SFTPC	8	22020665	5'Flank	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	115045	22020665	124343357	162	593											
PTK2B	2185	genome.wustl.edu	37	chr8	27296914	27296914	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagtgacgtctggatgttCggtgagtgctgatttgggag	17	6	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:27296914C>T	ENST00000397501.1	+	25	2641	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	PTK2B_ENST00000397497.4_Splice_Site_p.F357F|PTK2B_ENST00000338238.4_Splice_Site_p.F611F|PTK2B_ENST00000517339.1_Splice_Site_p.F611F|PTK2B_ENST00000346049.5_Splice_Site_p.F611F|PTK2B_ENST00000420218.2_Splice_Site_p.F611F|PTK2B_ENST00000544172.1_Splice_Site_p.F611F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCTGGATGTTCGGTGAGTGCT	0.562																																																	0								ENSG00000120899						78	70	73					8																	27296914		2203	4300	6503	PTK2B	SO:0001630	splice_region_variant	0			-	HGNC	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1834+1C>T	8.37:g.27296914C>T		Somatic	0	17	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F611	ENST00000397501.1	37	c.1833	CCDS6057.1	8																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.562	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	protein_coding	OTTHUMT00000219916.1	C	NM_004103	-	Silent	27296914	1	no_errors	ENST00000346049	ensembl	human	known	74_37	silent	SNP	1.000	T	T	27296914	C	T	27296914	5	4	9	1	0	0	0	0	0	0	1	0	12769	898	31	1	1907	1	PTK2B	8	27296914	Splice_Site	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5276249	27296914	119067108	163	594											
CLU	1191	genome.wustl.edu	37	chr8	27462569	27462569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttcaggggctcgtacGgagagaagggcatcaagctg	17	7	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:27462569G>A	ENST00000316403.10	-	5	1106	c.701C>T	c.(700-702)cCg>cTg	p.P234L	CLU_ENST00000405140.3_Missense_Mutation_p.P234L|CLU_ENST00000546343.1_Missense_Mutation_p.P245L|CLU_ENST00000523500.1_Missense_Mutation_p.P234L|CLU_ENST00000560366.1_Missense_Mutation_p.P286L			P10909	CLUS_HUMAN	clusterin	234					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.P286L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGGCTCGTACGGAGAGAAGGG	0.592																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000120885						117	112	114					8																	27462569		2203	4300	6503	CLU	SO:0001583	missense	0			-	HGNC	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.701C>T	8.37:g.27462569G>A	ENSP00000315130:p.Pro234Leu	Somatic	0	40	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP							pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.P286L	ENST00000316403.10	37	c.857	CCDS47832.1	8	.	.	.	.	.	.	.	.	.	.	G	2.750	-0.260285	0.05791	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.66	-3.72	0.04411	Clusterin, C-terminal (1);	2.240620	0.01623	N	0.023112	T	0.08044	0.0201	N	0.05510	-0.035	0.09310	N	1	B;B;B;B	0.15473	0.013;0.002;0.002;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.15867	-1.0422	10	0.08599	T	0.76	-0.057	1.7188	0.02907	0.3672:0.1304:0.3645:0.138	.	99;286;245;234	E7ETA7;P10909-2;P10909-5;P10909	.;.;.;CLUS_HUMAN	L	286;245;234;234;59;99;200	ENSP00000446413:P245L;ENSP00000385419:P234L;ENSP00000429620:P234L;ENSP00000431070:P200L	ENSP00000315130:P286L	P	-	2	0	CLU	27518486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-0.623000	0.05618	0.563000	0.77884	CCG	-	pfam_Clusterin-like,smart_Clusterin_C		0.592	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLU	protein_coding	OTTHUMT00000219953.3	G	NM_001831	-		27462569	-1	no_errors	ENST00000560366	ensembl	human	known	74_37	missense	SNP	0.000	A	A	27462569	G	A	27462569	3	1	9	1	0	0	0	0	1	0	0	0	3570	1116	39	1	668	1	CLU	8	27462569	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	165655	27462569	118901453	164	595											
TEX15	56154	genome.wustl.edu	37	chr8	30695394	30695394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgatcagatgaaacAgttaagtctattttgctttc	8	6	2	4			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:30695394A>G	ENST00000256246.2	-	3	7331	c.7257T>C	c.(7255-7257)acT>acC	p.T2419T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2419					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAGATGAAACAGTTAAGTCTA	0.368																																																	0								ENSG00000133863						221	221	221					8																	30695394		2203	4300	6503	TEX15	SO:0001819	synonymous_variant	0			-	HGNC	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7257T>C	8.37:g.30695394A>G		Somatic	0	87	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	74	31.48		Silent	SNP							NULL	p.T2419	ENST00000256246.2	37	c.7257	CCDS6080.1	8																																																																																			-	NULL		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	A		-		30695394	-1	no_errors	ENST00000256246	ensembl	human	known	74_37	silent	SNP	0.000	G	G	30695394	A	G	30695394	2	3	9	1	0	0	0	0	0	0	0	1	15786	175	7	5		5	TEX15	8	30695394	Silent	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	3232825	30695394	115668628	165	596											
MTFR1	9650	genome.wustl.edu	37	chr8	66594683	66594683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccaagagttcagttTcaggtattatattttatata	7	5	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:66594683T>G	ENST00000262146.4	+	3	288	c.162T>G	c.(160-162)ttT>ttG	p.F54L	MTFR1_ENST00000458689.2_Intron|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	54					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GAGTTCAGTTTCAGGtattat	0.299																																																	0								ENSG00000066855						59	56	57					8																	66594683		2203	4300	6503	MTFR1	SO:0001583	missense	0			-	HGNC		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.162T>G	8.37:g.66594683T>G	ENSP00000262146:p.Phe54Leu	Somatic	0	141	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	110	26.67	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP							pfam_Mtfr1	p.F54L	ENST00000262146.4	37	c.162	CCDS6182.1	8	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126917	0.77549	.	.	ENSG00000066855	ENST00000518609;ENST00000262146	T	0.72051	-0.62	5.63	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.90814	3.15	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	0.84958	0.0875	10	0.72032	D	0.01	-15.1811	7.9686	0.30113	0.0:0.1606:0.0:0.8394	.	54;54;54	B4E3G8;E5RJS5;Q15390	.;.;MTFR1_HUMAN	L	54	ENSP00000262146:F54L	ENSP00000262146:F54L	F	+	3	2	MTFR1	66757237	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.488000	0.35551	0.964000	0.38108	0.459000	0.35465	TTT	-	pfam_Mtfr1		0.299	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	protein_coding	OTTHUMT00000378894.1	T	NM_014637	-		66594683	1	no_errors	ENST00000262146	ensembl	human	known	74_37	missense	SNP	1.000	G	G	66594683	T	G	66594683	3	3	9	1	0	0	0	0	1	0	0	0	9927	1780	62	5	168	5	MTFR1	8	66594683	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	35899289	66594683	79769339	166	597											
SULF1	23213	genome.wustl.edu	37	chr8	70539472	70539472	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	attcttcccaatgactctatCcattgtgagagagaactgta	7	9	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:70539472C>G	ENST00000260128.4	+	16	2595	c.1878C>G	c.(1876-1878)atC>atG	p.I626M	SULF1_ENST00000402687.4_Missense_Mutation_p.I626M|SULF1_ENST00000419716.3_Missense_Mutation_p.I626M|SULF1_ENST00000458141.2_Missense_Mutation_p.I626M|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	626					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)			ATGACTCTATCCATTGTGAGA	0.388																																																	0								ENSG00000137573						163	147	152					8																	70539472		2203	4300	6503	SULF1	SO:0001583	missense	0			-	HGNC	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.1878C>G	8.37:g.70539472C>G	ENSP00000260128:p.Ile626Met	Somatic	0	90	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	18.18	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP							pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.I626M	ENST00000260128.4	37	c.1878	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172591	0.57584	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	6.04	6.04	0.98038	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.051713	0.85682	D	0.000000	D	0.98673	0.9555	M	0.63428	1.95	0.36940	D	0.892342	D	0.69078	0.997	D	0.65233	0.933	D	0.99187	1.0869	10	0.87932	D	0	.	6.4759	0.22034	0.1778:0.7161:0.0:0.1061	.	626	Q8IWU6	SULF1_HUMAN	M	626	ENSP00000403040:I626M;ENSP00000260128:I626M;ENSP00000385704:I626M;ENSP00000390315:I626M	ENSP00000260128:I626M	I	+	3	3	SULF1	70702026	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	0.588000	0.23924	2.873000	0.98535	0.563000	0.77884	ATC	-	pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	C	NM_015170	-		70539472	1	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	SNP	1.000	G	G	70539472	C	G	70539472	3	3	9	1	0	0	0	0	1	0	0	0	15377	845	30	4	1924	4	SULF1	8	70539472	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3944789	70539472	75824550	167	598											
TERF1	7013	genome.wustl.edu	37	chr8	73958296	73958296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattataaattcaacaaccGgacaagtgtcatgttaaaag	7	7	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:73958296G>A	ENST00000276603.5	+	10	1267	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	RP11-531A24.7_ENST00000607665.1_RNA|TERF1_ENST00000276602.6_Missense_Mutation_p.R395Q	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	415	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTCAACAACCGGACAAGTGTC	0.393																																																	0								ENSG00000147601						54	53	53					8																	73958296		2202	4297	6499	TERF1	SO:0001583	missense	0			-	HGNC	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1244G>A	8.37:g.73958296G>A	ENSP00000276603:p.Arg415Gln	Somatic	0	138	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	154	15.38	A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP							pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.R415Q	ENST00000276603.5	37	c.1244	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.284315	0.95517	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	T;T	0.62498	0.02;0.02	5.52	5.52	0.82312	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.064420	0.64402	N	0.000004	D	0.87116	0.6097	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91505	0.5222	10	0.87932	D	0	.	18.2273	0.89921	0.0:0.0:1.0:0.0	.	395;415	P54274-2;P54274	.;TERF1_HUMAN	Q	415;395	ENSP00000276603:R415Q;ENSP00000276602:R395Q	ENSP00000276602:R395Q	R	+	2	0	TERF1	74120850	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.483000	0.81158	2.592000	0.87571	0.557000	0.71058	CGG	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom		0.393	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	protein_coding	OTTHUMT00000379093.1	G	NM_017489	-		73958296	1	no_errors	ENST00000276603	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73958296	G	A	73958296	3	1	9	1	0	0	0	0	1	0	0	0	15768	1116	39	1	1282	1	TERF1	8	73958296	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3418824	73958296	72405726	168	599											
CA2	760	genome.wustl.edu	37	chr8	86392969	86392969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatggtggacaactggcGcccagctcagccactgaaga	12	12	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:86392969G>A	ENST00000285379.5	+	7	964	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	245					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GACAACTGGCGCCCAGCTCAG	0.413																																																	0								ENSG00000104267						105	95	98					8																	86392969		2203	4300	6503	CA2	SO:0001583	missense	0			-	HGNC	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.734G>A	8.37:g.86392969G>A	ENSP00000285379:p.Arg245His	Somatic	0	40	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R245H	ENST00000285379.5	37	c.734	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867903	0.91587	.	.	ENSG00000104267	ENST00000285379	D	0.95035	-3.59	5.85	4.04	0.47022	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.097775	0.64402	N	0.000001	D	0.98692	0.9561	H	0.99963	5.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	-12.9893	12.0378	0.53435	0.1417:0.0:0.8583:0.0	.	245	P00918	CAH2_HUMAN	H	245	ENSP00000285379:R245H	ENSP00000285379:R245H	R	+	2	0	CA2	86580221	1.000000	0.71417	0.927000	0.36925	0.805000	0.45488	9.591000	0.98241	1.455000	0.47813	0.655000	0.94253	CGC	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.413	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	protein_coding	OTTHUMT00000381097.2	G	NM_000067	-		86392969	1	no_errors	ENST00000285379	ensembl	human	known	74_37	missense	SNP	0.998	A	A	86392969	G	A	86392969	3	1	9	1	0	0	0	0	1	0	0	0	2518	1087	38	1	760	1	CA2	8	86392969	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	12434673	86392969	59971053	169	600											
WWP1	11059	genome.wustl.edu	37	chr8	87473537	87473537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttacctctaggaggatttGctgagctcatgggtaaatgt	12	6	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:87473537G>A	ENST00000517970.1	+	23	2891	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	WWP1_ENST00000341922.2_Missense_Mutation_p.A732T|WWP1_ENST00000265428.4_Missense_Mutation_p.A862T|WWP1_ENST00000349423.2_Missense_Mutation_p.A644T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	862	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGGAGGATTTGCTGAGCTCAT	0.363																																																	0								ENSG00000123124						158	147	150					8																	87473537		2203	4300	6503	WWP1	SO:0001583	missense	0			-	HGNC	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2584G>A	8.37:g.87473537G>A	ENSP00000427793:p.Ala862Thr	Somatic	0	62	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	59	10.61	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.A862T	ENST00000517970.1	37	c.2584	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.168868	0.94768	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.12	5.12	0.69794	HECT (4);	0.119842	0.64402	D	0.000020	T	0.76154	0.3948	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.78540	-0.2165	10	0.62326	D	0.03	.	18.9297	0.92560	0.0:0.0:1.0:0.0	.	862	Q9H0M0	WWP1_HUMAN	T	862;862;732;644;28	ENSP00000427793:A862T;ENSP00000265428:A862T;ENSP00000340564:A732T;ENSP00000342665:A644T;ENSP00000430228:A28T	ENSP00000265428:A862T	A	+	1	0	WWP1	87542653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.540000	0.85666	0.650000	0.86243	GCT	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.363	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	protein_coding	OTTHUMT00000374755.1	G	NM_007013	-		87473537	1	no_errors	ENST00000265428	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87473537	G	A	87473537	3	1	9	1	0	0	0	0	1	0	0	0	17422	1319	46	2	2666	2	WWP1	8	87473537	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1080568	87473537	58890485	170	601											
ZFPM2	23414	genome.wustl.edu	37	chr8	106813689	106813689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagagatacagcctacaaCaaataaacaaagcttttctt	4	10	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:106813689C>T	ENST00000407775.2	+	8	1629	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	ZFPM2_ENST00000520492.1_Missense_Mutation_p.T328I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T328I|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T191I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	460					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCTACAACAAATAAACAA	0.443																																																	0								ENSG00000169946						71	76	74					8																	106813689		1856	4095	5951	ZFPM2	SO:0001583	missense	0			-	HGNC	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1379C>T	8.37:g.106813689C>T	ENSP00000384179:p.Thr460Ile	Somatic	0	45	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T460I	ENST00000407775.2	37	c.1379	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417180	0.25552	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20069	2.1;2.58;2.58;3.79	5.97	5.09	0.68999	.	0.889888	0.09766	N	0.758578	T	0.20740	0.0499	L	0.29908	0.895	0.19300	N	0.999974	B	0.23735	0.09	B	0.20577	0.03	T	0.25502	-1.0130	10	0.37606	T	0.19	.	17.2323	0.86988	0.0:0.8742:0.1258:0.0	.	460	Q8WW38	FOG2_HUMAN	I	460;328;328;191	ENSP00000384179:T460I;ENSP00000430757:T328I;ENSP00000428720:T328I;ENSP00000367733:T191I	ENSP00000367733:T191I	T	+	2	0	ZFPM2	106882865	0.911000	0.30947	0.017000	0.16124	0.983000	0.72400	7.629000	0.83207	1.507000	0.48752	0.655000	0.94253	ACA	-	NULL		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	C		-		106813689	1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	SNP	0.175	T	T	106813689	C	T	106813689	3	4	9	1	0	0	0	0	1	0	0	0	17665	478	17	2	1409	2	ZFPM2	8	106813689	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	19340152	106813689	39550333	171	602											
COL14A1	7373	genome.wustl.edu	37	chr8	121301939	121301939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcatcagctaatatcacGtcagatggtgtagaagtgct	10	8	3	2	rs143025238	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:121301939G>A	ENST00000297848.3	+	34	4440	c.4170G>A	c.(4168-4170)acG>acA	p.T1390T	COL14A1_ENST00000309791.4_Silent_p.T1390T|COL14A1_ENST00000247781.3_Silent_p.T1295T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTAATATCACGTCAGATGGTG	0.448																																																	0								ENSG00000187955	G		3,4403	6.2+/-15.9	0,3,2200	176	154	161		4170	-11.7	0	8	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	COL14A1	NM_021110.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		1390/1797	121301939	3,13003	2203	4300	6503	COL14A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4170G>A	8.37:g.121301939G>A		Somatic	0	56	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	78	22.00		Silent	SNP							pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1390	ENST00000297848.3	37	c.4170	CCDS34938.1	8																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.448	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	G	NM_021110	rs143025238		121301939	1	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	SNP	0.000	A	A	121301939	G	A	121301939	2	1	9	1	0	0	0	0	0	0	0	1	3673	1132	40	1		1	COL14A1	8	121301939	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	14488250	121301939	25062083	172	603											
KCNQ3	3786	genome.wustl.edu	37	chr8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-													ggcctcaaagtctccttgaaTttttttttatagagacggaa							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					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)			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)	TCTCCTTGAATTTTTTTTTAT	0.453																																																	0								ENSG00000184156						103	101	102					8																	133150233		2203	4300	6503	KCNQ3	SO:0001589	frameshift_variant	0				HGNC	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.1599delA	8.37:g.133150233delT	ENSP00000373648:p.Lys533fs	Somatic	0	52	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Del	DEL							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K533fs	ENST00000388996.4	37	c.1599	CCDS34943.1	8																																																																																			-	pfam_K_chnl_volt-dep_KCNQ_C		0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	protein_coding	OTTHUMT00000268621.2	T	NM_004519			133150233	-1	no_errors	ENST00000388996	ensembl	human	known	74_37	frame_shift_del	DEL	0.715	-	-	133150233	T	-	133150233	7	5	9	1	0	1	0	1	0	0	0	0	8086	1490	52	0	1035	0	KCNQ3	8	133150233	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	11848294	133150233	13213789	173	604											
CYP11B1	1584	genome.wustl.edu	37	chr8	143957223	143957223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggcggccaggctctcCtggcgcagggcctgctgcac	16	16	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:143957223C>A	ENST00000292427.4	-	6	1058	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q413H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q342H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	342					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCAGGCTCTCCTGGCGCAGGG	0.647									Familial Hyperaldosteronism type I																																								0								ENSG00000160882						73	76	75					8																	143957223		2203	4300	6503	CYP11B1	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1026G>T	8.37:g.143957223C>A	ENSP00000292427:p.Gln342His	Somatic	0	59	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.Q342H	ENST00000292427.4	37	c.1026	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	17.07	3.294095	0.60086	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69926	-0.44;-0.44;-0.44	4.42	2.55	0.30701	.	0.423728	0.19940	N	0.102676	T	0.76593	0.4009	M	0.72576	2.205	0.37840	D	0.929038	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.995	D;D;D;D;D	0.91635	0.984;0.99;0.99;0.999;0.979	T	0.77424	-0.2593	10	0.62326	D	0.03	.	6.8169	0.23835	0.0:0.6888:0.0:0.3112	.	413;342;342;342;58	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	H	342;342;413	ENSP00000292427:Q342H;ENSP00000428043:Q342H;ENSP00000366903:Q413H	ENSP00000292427:Q342H	Q	-	3	2	CYP11B1	143954225	0.544000	0.26441	1.000000	0.80357	0.777000	0.43975	0.780000	0.26760	0.974000	0.38366	0.555000	0.69702	CAG	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	C		-		143957223	-1	no_errors	ENST00000292427	ensembl	human	known	74_37	missense	SNP	1.000	A	A	143957223	C	A	143957223	3	1	9	1	0	0	0	0	1	0	0	0	4147	680	24	3	501	3	CYP11B1	8	143957223	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	10806990	143957223	2406799	174	605											
CYP11B2	1585	genome.wustl.edu	37	chr8	143996608	143996608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctctgcacggccttgggcGacagcacatctgggttcagc	12	14	3	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:143996608G>A	ENST00000323110.2	-	3	451	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	150					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCCTTGGGCGACAGCACATC	0.632									Familial Hyperaldosteronism type I																																								0								ENSG00000179142						61	50	54					8																	143996608		2203	4300	6503	CYP11B2	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.449C>T	8.37:g.143996608G>A	ENSP00000325822:p.Ser150Leu	Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B0ZBE4|Q16726	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.S150L	ENST00000323110.2	37	c.449	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	14.00	2.405715	0.42715	.	.	ENSG00000179142	ENST00000323110	T	0.71103	-0.54	3.44	2.52	0.30459	.	0.159267	0.29760	N	0.011263	T	0.70430	0.3223	M	0.80183	2.485	0.09310	N	1	P	0.44946	0.846	P	0.45195	0.473	T	0.63238	-0.6682	10	0.49607	T	0.09	.	5.9466	0.19221	0.0:0.199:0.5656:0.2353	.	150	P19099	C11B2_HUMAN	L	150	ENSP00000325822:S150L	ENSP00000325822:S150L	S	-	2	0	CYP11B2	143993610	0.181000	0.23161	0.002000	0.10522	0.016000	0.09150	1.288000	0.33296	0.725000	0.32318	0.561000	0.74099	TCG	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	protein_coding	OTTHUMT00000359904.1	G		-		143996608	-1	no_errors	ENST00000323110	ensembl	human	known	74_37	missense	SNP	0.139	A	A	143996608	G	A	143996608	3	1	9	1	0	0	0	0	1	0	0	0	4148	1059	37	1	1090	1	CYP11B2	8	143996608	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	39385	143996608	2367414	175	606											
PLEC	5339	genome.wustl.edu	37	chr8	144997258	144997258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccacactcagccgcgcgGcctcctccgccacctgcttc	8	23	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:144997258G>A	ENST00000322810.4	-	31	7419	c.7250C>T	c.(7249-7251)gCc>gTc	p.A2417V	PLEC_ENST00000354958.2_Missense_Mutation_p.A2258V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2280V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2248V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2266V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2280V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2284V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2307V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2303V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2417	Central fibrous rod domain.				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						CAGCCGCGCGGCCTCCTCCGC	0.642																																																	0								ENSG00000178209						17	18	18					8																	144997258		2195	4289	6484	PLEC	SO:0001583	missense	0			-	HGNC	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.7250C>T	8.37:g.144997258G>A	ENSP00000323856:p.Ala2417Val	Somatic	0	17	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A2417V	ENST00000322810.4	37	c.7250	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940609	0.34283	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79033	-1.17;-1.17;-1.2;-1.2;-1.17;-1.16;-1.23;-1.17;-1.17	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000008	T	0.78188	0.4244	M	0.64404	1.975	0.58432	D	0.999991	P;P;P;P;P;P;P;P	0.45474	0.859;0.859;0.859;0.779;0.859;0.859;0.859;0.859	P;P;P;B;P;P;P;P	0.48677	0.586;0.586;0.586;0.382;0.586;0.586;0.586;0.586	T	0.73975	-0.3813	10	0.14656	T	0.56	.	12.9978	0.58657	0.0806:0.0:0.9194:0.0	.	2307;2266;2258;2417;2248;2280;2284;2280	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2280;2284;2280;2248;2417;2258;2266;2307;2303	ENSP00000344848:A2280V;ENSP00000350277:A2284V;ENSP00000346602:A2280V;ENSP00000381756:A2248V;ENSP00000323856:A2417V;ENSP00000347044:A2258V;ENSP00000348702:A2266V;ENSP00000388180:A2307V;ENSP00000434583:A2303V	ENSP00000323856:A2417V	A	-	2	0	PLEC	145069246	1.000000	0.71417	0.945000	0.38365	0.637000	0.38172	6.438000	0.73426	2.415000	0.81967	0.549000	0.68633	GCC	-	superfamily_Chorismate_mutase_type_II		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	G	NM_000445	-		144997258	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	SNP	0.999	A	A	144997258	G	A	144997258	3	1	9	1	0	0	0	0	1	0	0	0	12054	1203	42	2	6812	2	PLEC	8	144997258	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1000650	144997258	1366764	176	607											
DCAF12	25853	genome.wustl.edu	37	chr9	34098374	34098374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcagttgtcagggtttGtgtcttctttggggatgtcc	13	8	3	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:34098374G>A	ENST00000361264.4	-	5	1084	c.743C>T	c.(742-744)aCa>aTa	p.T248I	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	248					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GTCAGGGTTTGTGTCTTCTTT	0.473																																																	0								ENSG00000198876						388	321	344					9																	34098374		2203	4300	6503	DCAF12	SO:0001583	missense	0			-	HGNC	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.743C>T	9.37:g.34098374G>A	ENSP00000355114:p.Thr248Ile	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T248I	ENST00000361264.4	37	c.743	CCDS6549.1	9	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384183	0.61845	.	.	ENSG00000198876	ENST00000361264	T	0.62941	-0.01	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	L	0.46157	1.445	0.80722	D	1	B	0.19706	0.038	B	0.17098	0.017	T	0.51100	-0.8748	10	0.25751	T	0.34	-21.5275	17.5766	0.87952	0.0:0.0:1.0:0.0	.	248	Q5T6F0	DCA12_HUMAN	I	248	ENSP00000355114:T248I	ENSP00000355114:T248I	T	-	2	0	DCAF12	34088374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.885000	0.92439	2.596000	0.87737	0.655000	0.94253	ACA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.473	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	protein_coding	OTTHUMT00000052133.2	G	NM_015397	-		34098374	-1	no_errors	ENST00000361264	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34098374	G	A	34098374	3	1	9	1	0	0	0	0	1	0	0	0	4265	1377	48	2	638	2	DCAF12	9	34098374	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		34098374	107115057	177	608											
TLN1	7094	genome.wustl.edu	37	chr9	35705597	35705597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggcctccgaggccagaCggccatagtcactggtcagc	13	14	2	1	rs567336438		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:35705597C>T	ENST00000314888.9	-	43	6037	c.5684G>A	c.(5683-5685)cGt>cAt	p.R1895H	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1895	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGGCCAGACGGCCATAGTC	0.562																																																	0								ENSG00000137076						61	64	63					9																	35705597		2203	4300	6503	TLN1	SO:0001583	missense	0			-	HGNC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5684G>A	9.37:g.35705597C>T	ENSP00000316029:p.Arg1895His	Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP							pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R1895H	ENST00000314888.9	37	c.5684	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	c	9.223	1.033886	0.19590	.	.	ENSG00000137076	ENST00000314888	T	0.30981	1.51	5.66	3.82	0.43975	Vinculin-binding site-containing domain (1);	0.418407	0.29212	N	0.012806	T	0.09642	0.0237	N	0.01352	-0.895	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.09143	-1.0688	10	0.28530	T	0.3	-0.8644	5.5485	0.17078	0.0:0.6364:0.0:0.3636	.	1895	Q9Y490	TLN1_HUMAN	H	1895	ENSP00000316029:R1895H	ENSP00000316029:R1895H	R	-	2	0	TLN1	35695597	1.000000	0.71417	0.958000	0.39756	0.953000	0.61014	4.894000	0.63206	1.404000	0.46819	-0.226000	0.12346	CGT	-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	protein_coding	OTTHUMT00000052353.2	C	NM_006289	-		35705597	-1	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	SNP	0.971	T	T	35705597	C	T	35705597	3	4	9	1	0	0	0	0	1	0	0	0	15954	536	19	1	2001	1	TLN1	9	35705597	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1607223	35705597	105507834	178	609											
ANXA1	301	genome.wustl.edu	37	chr9	75773648	75773648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggtggtcccggatcagCggtgagcccctatcctacct	11	14	1	1	rs376171580		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:75773648C>T	ENST00000376911.1	+	2	986	c.104C>T	c.(103-105)gCg>gTg	p.A35V	ANXA1_ENST00000257497.6_Missense_Mutation_p.A35V			P04083	ANXA1_HUMAN	annexin A1	35					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CCCGGATCAGCGGTGAGCCCC	0.418																																																	0								ENSG00000135046	C	VAL/ALA	0,4406		0,0,2203	74	71	72		104	5.2	0.9	9		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANXA1	NM_000700.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	35/347	75773648	1,13005	2203	4300	6503	ANXA1	SO:0001583	missense	0			-	HGNC	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.104C>T	9.37:g.75773648C>T	ENSP00000366109:p.Ala35Val	Somatic	0	22	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14		Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.A35V	ENST00000376911.1	37	c.104	CCDS6645.1	9	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533866	0.45073	0.0	1.16E-4	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.24	5.24	0.73138	.	0.277449	0.41823	D	0.000805	T	0.04318	0.0119	N	0.14661	0.345	0.32050	N	0.597082	B	0.11235	0.004	B	0.08055	0.003	T	0.08868	-1.0701	10	0.72032	D	0.01	.	15.4809	0.75524	0.0:0.8611:0.1389:0.0	.	35	P04083	ANXA1_HUMAN	V	35;46;35;35	ENSP00000257497:A35V;ENSP00000412489:A46V;ENSP00000414013:A35V;ENSP00000366109:A35V	ENSP00000257497:A35V	A	+	2	0	ANXA1	74963468	0.997000	0.39634	0.931000	0.37212	0.190000	0.23558	4.961000	0.63681	2.607000	0.88179	0.655000	0.94253	GCG	-	NULL		0.418	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	protein_coding	OTTHUMT00000052665.1	C	NM_000700	-		75773648	1	no_errors	ENST00000257497	ensembl	human	known	74_37	missense	SNP	0.970	T	T	75773648	C	T	75773648	3	4	9	1	0	0	0	0	1	0	0	0	714	768	27	1	110	1	ANXA1	9	75773648	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	40068051	75773648	65439783	179	610											
DAPK1	1612	genome.wustl.edu	37	chr9	90321168	90321168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgctgcaccactaccGgggccgctacaccgtggagg	15	15	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:90321168G>A	ENST00000408954.3	+	26	3517	c.3182G>A	c.(3181-3183)cGg>cAg	p.R1061Q	DAPK1_ENST00000491893.1_Missense_Mutation_p.R995Q|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1061Q|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1086Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1061Q	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1061					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CACCACTACCGGGGCCGCTAC	0.667									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								ENSG00000196730						28	33	31					9																	90321168		2070	4209	6279	DAPK1	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	-	HGNC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3182G>A	9.37:g.90321168G>A	ENSP00000386135:p.Arg1061Gln	Somatic	0	67	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	24.53	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R1086Q	ENST00000408954.3	37	c.3257	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.380412	0.95945	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.66995	-0.21;-0.21;-0.23;-0.21;-0.24	5.72	5.72	0.89469	.	0.000000	0.49305	D	0.000146	T	0.77491	0.4138	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.964;0.999;0.964	B;P;B	0.58266	0.289;0.836;0.289	T	0.76462	-0.2950	10	0.48119	T	0.1	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	995;1061;1061	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	Q	1061;1061;1086;1061;995	ENSP00000350785:R1061Q;ENSP00000417076:R1061Q;ENSP00000418885:R1086Q;ENSP00000386135:R1061Q;ENSP00000419026:R995Q	ENSP00000350785:R1061Q	R	+	2	0	DAPK1	89510988	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.624000	0.98398	2.717000	0.92951	0.655000	0.94253	CGG	-	NULL		0.667	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	G	NM_004938	-		90321168	1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90321168	G	A	90321168	3	1	9	1	0	0	0	0	1	0	0	0	4237	1116	39	1	3280	1	DAPK1	9	90321168	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	14547520	90321168	50892263	180	611											
SYK	6850	genome.wustl.edu	37	chr9	93650108	93650108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagttctccagcaaaagCgatgtctggagctttggagt	11	8	2	0	rs141667926		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:93650108C>T	ENST00000375754.4	+	12	1807	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	SYK_ENST00000375747.1_Silent_p.S530S|SYK_ENST00000375746.1_Silent_p.S553S|SYK_ENST00000375751.4_Silent_p.S530S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	553	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCAGCAAAAGCGATGTCTGGA	0.512			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								ENSG00000165025	C	,,,	0,4406		0,0,2203	175	170	172		1590,1659,1590,1659	-5.2	0.3	9	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	530/613,553/636,530/613,553/636	93650108	1,13005	2203	4300	6503	SYK	SO:0001819	synonymous_variant	0			-	HGNC	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1659C>T	9.37:g.93650108C>T		Somatic	0	47	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	32	44.83		Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S553	ENST00000375754.4	37	c.1659	CCDS6688.1	9																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.512	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	protein_coding	OTTHUMT00000053018.1	C		rs141667926		93650108	1	no_errors	ENST00000375746	ensembl	human	known	74_37	silent	SNP	0.974	T	T	93650108	C	T	93650108	2	4	9	1	0	0	0	0	0	0	0	1	15445	767	27	1		1	SYK	9	93650108	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3328940	93650108	47563323	181	612											
C5	727	genome.wustl.edu	37	chr9	123794394	123794394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtcagaaattaccatAttctttaacttcaaaatatg	3	7	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:123794394A>G	ENST00000223642.1	-	6	693	c.664T>C	c.(664-666)Tat>Cat	p.Y222H		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	222					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)	AAATTACCATATTCTTTAACT	0.368																																																	0								ENSG00000106804						80	84	83					9																	123794394		2202	4300	6502	C5	SO:0001583	missense	0			-	HGNC	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.664T>C	9.37:g.123794394A>G	ENSP00000223642:p.Tyr222His	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	Q14CJ0|Q27I61	Missense_Mutation	SNP							pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.Y222H	ENST00000223642.1	37	c.664	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770448	0.69992	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.58652	0.32	6.06	3.74	0.42951	.	0.058089	0.64402	N	0.000001	T	0.73466	0.3590	M	0.85197	2.74	0.46749	D	0.999187	D;D	0.53885	0.963;0.963	P;P	0.61722	0.887;0.893	T	0.74636	-0.3599	10	0.87932	D	0	.	9.5365	0.39226	0.8583:0.0:0.1417:0.0	.	293;222	Q59GS8;P01031	.;CO5_HUMAN	H	222;293	ENSP00000223642:Y222H	ENSP00000223642:Y222H	Y	-	1	0	C5	122834215	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.683000	0.68189	0.541000	0.28827	0.528000	0.53228	TAT	-	NULL		0.368	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	protein_coding	OTTHUMT00000053844.1	A	NM_001735	-		123794394	-1	no_errors	ENST00000223642	ensembl	human	known	74_37	missense	SNP	1.000	G	G	123794394	A	G	123794394	3	3	9	1	0	0	0	0	1	0	0	0	2282	449	16	5	4510	5	C5	9	123794394	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	30144286	123794394	17419037	182	613											
STXBP1	6812	genome.wustl.edu	37	chr9	130439024	130439024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctcggcgtgcccatcGtcaccgatgtaagaggccag	11	15	2	1	rs150259704		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:130439024G>A	ENST00000373299.1	+	15	1466	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I	STXBP1_ENST00000373302.3_Missense_Mutation_p.V451I|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	451					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGTGCCCATCGTCACCGATGT	0.562													g|||	1	0.000199681	0	0	5008	,	,		18554	0		0.001	False		,,,				2504	0																0								ENSG00000136854	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	83	62	70		1351,1351	4.2	1	9	dbSNP_134	70	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	STXBP1	NM_001032221.3,NM_003165.3	29,29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign,benign	451/595,451/604	130439024	5,13001	2203	4300	6503	STXBP1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1351G>A	9.37:g.130439024G>A	ENSP00000362396:p.Val451Ile	Somatic	0	10	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP							pfam_Sec1-like,superfamily_Sec1-like	p.V451I	ENST00000373299.1	37	c.1351	CCDS35146.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	7.811	0.715787	0.15306	2.27E-4	4.65E-4	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.76448	-1.02;-1.02	5.2	4.18	0.49190	.	0.098835	0.64402	D	0.000003	T	0.49236	0.1545	N	0.10707	0.03	0.33498	D	0.589592	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.003	T	0.51980	-0.8636	10	0.05721	T	0.95	-5.1459	4.6912	0.12781	0.2639:0.0:0.7361:0.0	.	451;451	P61764;P61764-2	STXB1_HUMAN;.	I	405;451;283;451	ENSP00000362399:V451I;ENSP00000362396:V451I	ENSP00000362396:V451I	V	+	1	0	STXBP1	129478845	1.000000	0.71417	0.990000	0.47175	0.659000	0.38960	4.222000	0.58580	2.404000	0.81709	0.561000	0.74099	GTC	-	pfam_Sec1-like,superfamily_Sec1-like		0.562	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	protein_coding	OTTHUMT00000054229.1	G	NM_003165	rs150259704		130439024	1	no_errors	ENST00000373299	ensembl	human	known	74_37	missense	SNP	0.996	A	A	130439024	G	A	130439024	3	1	9	1	0	0	0	0	1	0	0	0	15359	1145	40	1	1409	1	STXBP1	9	130439024	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	6644630	130439024	10774407	183	614											
BAT2L1	84726	genome.wustl.edu	37	chr9	134360348	134360348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagatggagtctgcgcGcaaggcttgggaaaactccc	13	10	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:134360348G>A	ENST00000357304.4	+	24	5634	c.5579G>A	c.(5578-5580)cGc>cAc	p.R1860H	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1166H|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1166H|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1860							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGTCTGCGCGCAAGGCTTGG	0.602																																																	0								ENSG00000130723						21	24	23					9																	134360348		2044	4199	6243	PRRC2B	SO:0001583	missense	0			-	HGNC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5579G>A	9.37:g.134360348G>A	ENSP00000349856:p.Arg1860His	Somatic	0	45	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP							pfam_BAT2_N	p.R1860H	ENST00000357304.4	37	c.5579	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.364771	0.95877	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.13089	2.62;2.92;2.62	5.24	5.24	0.73138	.	0.165134	0.28349	U	0.015675	T	0.35998	0.0951	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.05289	-1.0894	10	0.72032	D	0.01	-29.4745	17.8639	0.88790	0.0:0.0:1.0:0.0	.	1166;1860	Q5JSZ5-5;Q5JSZ5	.;PRC2B_HUMAN	H	1166;1860;1166	ENSP00000384606:R1166H;ENSP00000349856:R1860H;ENSP00000398853:R1166H	ENSP00000349856:R1860H	R	+	2	0	PRRC2B	133350169	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.451000	0.82905	0.555000	0.69702	CGC	-	NULL		0.602	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		G		-		134360348	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	SNP	1.000	A	A	134360348	G	A	134360348	3	1	9	1	0	0	0	0	1	0	0	0	1320	1087	38	1	5673	1	BAT2L1	9	134360348	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3921324	134360348	6853083	184	615											
CAMSAP1	157922	genome.wustl.edu	37	chr9	138710956	138710956	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggaggaaggccgcccGcttcttggcgagctcatctt	12	13	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:138710956G>T	ENST00000389532.4	-	12	3923	c.3859C>A	c.(3859-3861)Cgg>Agg	p.R1287R	CAMSAP1_ENST00000312405.6_Silent_p.R1009R|CAMSAP1_ENST00000409386.3_Silent_p.R1298R|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1287					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)		AAGGCCGCCCGCTTCTTGGCG	0.647																																																	0								ENSG00000130559						22	19	20					9																	138710956		2203	4299	6502	CAMSAP1	SO:0001819	synonymous_variant	0			-	HGNC	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.3859C>A	9.37:g.138710956G>T		Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP							pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R1298	ENST00000389532.4	37	c.3892	CCDS35176.2	9																																																																																			-	NULL		0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	protein_coding	OTTHUMT00000055024.2	G	XM_351857	-		138710956	-1	no_errors	ENST00000409386	ensembl	human	known	74_37	silent	SNP	1.000	T	T	138710956	G	T	138710956	2	4	9	1	0	0	0	0	0	0	0	1	2613	1086	38	3		3	CAMSAP1	9	138710956	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4350608	138710956	2502475	185	616											
C9orf167	54863	genome.wustl.edu	37	chr9	140173617	140173617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagaaagcgctgcagcGcgcggtgttcggccagcccg	17	13	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:140173617G>A	ENST00000357503.2	+	2	672	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	159					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										GCGCTGCAGCGCGCGGTGTTC	0.647																																																	0								ENSG00000198113						10	9	9					9																	140173617		2164	4262	6426	TOR4A	SO:0001583	missense	0			-	HGNC	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.476G>A	9.37:g.140173617G>A	ENSP00000350102:p.Arg159His	Somatic	0	21	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A2BFA4	Missense_Mutation	SNP							pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R159H	ENST00000357503.2	37	c.476	CCDS7041.1	9	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491137	0.64074	.	.	ENSG00000198113	ENST00000357503	T	0.22336	1.96	4.46	3.56	0.40772	.	0.053343	0.64402	N	0.000001	T	0.42787	0.1218	M	0.71206	2.165	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.35500	-0.9786	10	0.72032	D	0.01	-11.6847	11.041	0.47831	0.093:0.0:0.907:0.0	.	159	Q9NXH8	CI167_HUMAN	H	159	ENSP00000350102:R159H	ENSP00000350102:R159H	R	+	2	0	C9orf167	139293438	1.000000	0.71417	0.747000	0.31113	0.346000	0.29079	5.215000	0.65241	0.988000	0.38734	0.561000	0.74099	CGC	-	pfam_Torsin,superfamily_P-loop_NTPase		0.647	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	protein_coding	OTTHUMT00000254711.1	G	NM_017723	-		140173617	1	no_errors	ENST00000357503	ensembl	human	known	74_37	missense	SNP	0.992	A	A	140173617	G	A	140173617	3	1	9	1	0	0	0	0	1	0	0	0	2470	1087	38	1	478	1	C9orf167	9	140173617	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1462661	140173617	1039814	186	617											
C10orf54	64115	genome.wustl.edu	37	chr10	73512760	73512760	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaccagctcctgggcacCtagggacagacagacagaga	12	14	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:73512760C>A	ENST00000394957.3	-	5	735		c.e5-1		CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54						BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCTGGGCACCTAGGGACAGA	0.577																																																	0								ENSG00000107738						52	47	49					10																	73512760		2203	4300	6503	C10orf54	SO:0001630	splice_region_variant	0			-	HGNC	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.677-1G>T	10.37:g.73512760C>A		Somatic	0	80	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Splice_Site	SNP							-	e5-1	ENST00000394957.3	37	c.677-1	CCDS31218.1	10	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343122	0.82022	.	.	ENSG00000107738	ENST00000394957	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6425	0.91400	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf54	73182766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.695000	0.68279	2.757000	0.94681	0.462000	0.41574	.	-	-		0.577	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf54	protein_coding	OTTHUMT00000048548.1	C	NM_022153	-	Intron	73512760	-1	no_errors	ENST00000394957	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	73512760	C	A	73512760	5	1	9	1	0	0	0	0	0	0	1	0	1609	695	24	3	271	3	C10orf54	10	73512760	Splice_Site	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		73512760	62021987	187	618											
CAMK2G	818	genome.wustl.edu	37	chr10	75599351	75599351	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcgggggcggagctctGcctgccaactgaggggatac	18	11	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:75599351G>A	ENST00000322635.3	-	13	1073	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	CAMK2G_ENST00000322680.3_Intron|CAMK2G_ENST00000394762.2_Intron|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000423381.1_Nonsense_Mutation_p.Q319*|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000372765.1_Nonsense_Mutation_p.Q319*|CAMK2G_ENST00000305762.7_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000351293.3_Intron	NM_172169.2	NP_751909.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	315					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GCGGAGCTCTGCCTGCCAACT	0.741																																																	0								ENSG00000148660						6	5	6					10																	75599351		1854	3591	5445	CAMK2G	SO:0001587	stop_gained	0			-	HGNC	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000322635.3:c.955C>T	10.37:g.75599351G>A	ENSP00000315599:p.Gln319*	Somatic	0	19	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q319*	ENST00000322635.3	37	c.955	CCDS7337.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.335888	0.97485	.	.	ENSG00000148660	ENST00000322635;ENST00000423381;ENST00000372765	.	.	.	5.71	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	14.8726	0.70471	0.0:0.0:0.8551:0.1449	.	.	.	.	X	319	.	ENSP00000315599:Q319X	Q	-	1	0	CAMK2G	75269357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.856000	0.86956	1.374000	0.46228	0.591000	0.81541	CAG	-	superfamily_Kinase-like_dom		0.741	CAMK2G-001	KNOWN	basic|CCDS	protein_coding	CAMK2G	protein_coding	OTTHUMT00000048714.1	G	NM_172169	-		75599351	-1	no_errors	ENST00000423381	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	75599351	G	A	75599351	4	1	9	1	0	0	0	0	0	1	0	0	2604	1328	46	2	851	2	CAMK2G	10	75599351	Nonsense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2086591	75599351	59935396	188	619											
LIPJ	142910	genome.wustl.edu	37	chr10	90365424	90365424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatttgaaagcttatgactGgggcagtcctgatctgaact	10	8	2	4			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:90365424G>T	ENST00000371939.3	+	10	1144	c.830G>T	c.(829-831)tGg>tTg	p.W277L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	277					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GCTTATGACTGGGGCAGTCCT	0.333																																																	0								ENSG00000204022						93	94	94					10																	90365424		2203	4300	6503	LIPJ	SO:0001583	missense	0			-	HGNC	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.830G>T	10.37:g.90365424G>T	ENSP00000361007:p.Trp277Leu	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	A8MT98|Q0P671	Missense_Mutation	SNP							pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.W277L	ENST00000371939.3	37	c.830	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456685	0.26161	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.70164	-0.46;-0.46	4.0	3.06	0.35304	Alpha/beta hydrolase fold-1 (1);	0.000000	0.44285	D	0.000464	T	0.76485	0.3994	M	0.68593	2.085	0.32627	N	0.522553	D	0.89917	1.0	D	0.72338	0.977	T	0.80659	-0.1284	10	0.87932	D	0	-22.4992	8.9189	0.35599	0.0:0.0:0.5954:0.4046	.	277	Q5W064	LIPJ_HUMAN	L	277;92	ENSP00000361007:W277L;ENSP00000434211:W92L	ENSP00000361007:W277L	W	+	2	0	LIPJ	90355404	1.000000	0.71417	0.985000	0.45067	0.009000	0.06853	2.724000	0.47285	0.959000	0.37980	0.643000	0.83706	TGG	-	pfam_AB_hydrolase_1		0.333	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	protein_coding	OTTHUMT00000049248.2	G	XM_084377	-		90365424	1	no_errors	ENST00000371939	ensembl	human	known	74_37	missense	SNP	0.998	T	T	90365424	G	T	90365424	3	4	9	1	0	0	0	0	1	0	0	0	8828	1357	47	3	860	3	LIPJ	10	90365424	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	14766073	90365424	45169323	189	620											
FAS	355	genome.wustl.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-													agtgcagatgtaaaccaaacTttttttgtaactctactgta							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																																	0								ENSG00000026103						338	365	356					10																	90768708		2203	4300	6503	FAS	SO:0001589	frameshift_variant	0				HGNC	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs	Somatic	0	83	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	81	10.99	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL							pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.C135fs	ENST00000355279.2	37	c.397	CCDS7395.1	10																																																																																			-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt		0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	FAS	protein_coding	OTTHUMT00000049280.2	T				90768708	1	no_errors	ENST00000355740	ensembl	human	known	74_37	frame_shift_del	DEL	0.881	-	-	90768708	T	-	90768708	7	5	9	1	0	1	0	1	0	0	0	0	5683	1609	56	0	411	0	FAS	10	90768708	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	403284	90768708	44766039	190	621											
PPP1R3C	5507	genome.wustl.edu	37	chr10	93390509	93390509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgttgaaattcatcGtacgggcccaggaaactctt	10	10	2	1	rs148420815	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:93390509G>A	ENST00000238994.5	-	2	213	c.129C>T	c.(127-129)taC>taT	p.Y43Y		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GAAATTCATCGTACGGGCCCA	0.448													G|||	2	0.000399361	0.0015	0	5008	,	,		19281	0		0	False		,,,				2504	0																0								ENSG00000119938	G		3,4403	6.2+/-15.9	0,3,2200	106	109	108		129	-8.2	0.1	10	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	PPP1R3C	NM_005398.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		43/318	93390509	3,13003	2203	4300	6503	PPP1R3C	SO:0001819	synonymous_variant	0			-	HGNC	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.129C>T	10.37:g.93390509G>A		Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64		Silent	SNP							pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.Y43	ENST00000238994.5	37	c.129	CCDS7416.1	10																																																																																			-	pirsf_Pase-1_Glycogen_target-su_met		0.448	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	protein_coding	OTTHUMT00000049372.1	G	NM_005398	rs148420815		93390509	-1	no_errors	ENST00000238994	ensembl	human	known	74_37	silent	SNP	0.032	A	A	93390509	G	A	93390509	2	1	9	1	0	0	0	0	0	0	0	1	12378	1140	40	1		1	PPP1R3C	10	93390509	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2621801	93390509	42144238	191	622											
CNNM1	26507	genome.wustl.edu	37	chr10	101147724	101147724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccctaaggatgaccccGccatcacgctcctcaacaac	6	18	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:101147724G>A	ENST00000356713.4	+	8	2777	c.2488G>A	c.(2488-2490)Gcc>Acc	p.A830T	CNNM1_ENST00000370534.4_Missense_Mutation_p.A486T|CNNM1_ENST00000446890.1_Missense_Mutation_p.A759T|CNNM1_ENST00000370528.3_Missense_Mutation_p.A759T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	830					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGATGACCCCGCCATCACGCT	0.642																																																	0								ENSG00000119946						35	39	37					10																	101147724		2203	4299	6502	CNNM1	SO:0001583	missense	0			-	HGNC	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2488G>A	10.37:g.101147724G>A	ENSP00000349147:p.Ala830Thr	Somatic	0	73	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP							pfam_DUF21,pfam_CBS_dom	p.A830T	ENST00000356713.4	37	c.2488	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.171994	0.01646	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.05	3.17	0.36434	.	0.344753	0.22614	N	0.057787	T	0.09379	0.0231	N	0.02345	-0.59	0.25448	N	0.988037	B;B;B	0.19445	0.009;0.036;0.001	B;B;B	0.17098	0.005;0.017;0.001	T	0.37244	-0.9714	10	0.02654	T	1	-25.2232	6.9488	0.24534	0.1499:0.0:0.7105:0.1396	.	486;830;830	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	T	830;759;759;486;283	ENSP00000349147:A830T;ENSP00000406492:A759T;ENSP00000359559:A759T;ENSP00000359565:A486T	ENSP00000349147:A830T	A	+	1	0	CNNM1	101137714	0.148000	0.22702	0.206000	0.23566	0.076000	0.17211	1.518000	0.35877	0.623000	0.30267	0.655000	0.94253	GCC	-	NULL		0.642	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	protein_coding	OTTHUMT00000049792.2	G	NM_020348	-		101147724	1	no_errors	ENST00000356713	ensembl	human	known	74_37	missense	SNP	0.980	A	A	101147724	G	A	101147724	3	1	9	1	0	0	0	0	1	0	0	0	3614	1087	38	1	2518	1	CNNM1	10	101147724	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	7757215	101147724	34387023	192	623											
SORCS3	22986	genome.wustl.edu	37	chr10	107023093	107023093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgccactattgcaaacagCgaaagcacaaaggagatccc	8	11	0	1	rs375742143	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:107023093C>T	ENST00000369701.3	+	27	3857	c.3630C>T	c.(3628-3630)agC>agT	p.S1210S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1210					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)		TTGCAAACAGCGAAAGCACAA	0.438													C|||	3	0.000599042	0	0	5008	,	,		17522	0		0	False		,,,				2504	0.0031				NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						122	103	109					10																	107023093		2203	4300	6503	SORCS3	SO:0001819	synonymous_variant	0			-	HGNC	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.3630C>T	10.37:g.107023093C>T		Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	Q5VXF9|Q9NQJ2	Silent	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S1210	ENST00000369701.3	37	c.3630	CCDS7558.1	10																																																																																			-	NULL		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	C	NM_014978	-		107023093	1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	SNP	0.998	T	T	107023093	C	T	107023093	2	4	9	1	0	0	0	0	0	0	0	1	14940	767	27	1		1	SORCS3	10	107023093	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5875369	107023093	28511654	193	624											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111643880	111643880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatactggattgtgctccaCatctgatcctcggagattaa	8	9	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:111643880C>T	ENST00000502935.1	-	9	894	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.V259M|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.V145M|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.V216M|XPNPEP1_ENST00000430337.1_5'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTGTGCTCCACATCTGATCCT	0.468											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000108039						177	174	175					10																	111643880		2203	4300	6503	XPNPEP1	SO:0001583	missense	0			-	HGNC		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.775G>A	10.37:g.111643880C>T	ENSP00000421566:p.Val259Met	Somatic	0	48	0	1436	0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Missense_Mutation	SNP							pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.V259M	ENST00000502935.1	37	c.775	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241774	0.79912	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.24	5.24	0.73138	.	0.058302	0.64402	D	0.000001	T	0.51907	0.1702	M	0.92317	3.295	0.46061	D	0.998841	D;D;P	0.89917	1.0;0.985;0.95	D;P;P	0.68353	0.957;0.89;0.803	T	0.64123	-0.6481	10	0.87932	D	0	-15.7525	17.3671	0.87367	0.0:1.0:0.0:0.0	.	259;259;216	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	M	259;145;259;216;216;184	ENSP00000421566:V259M;ENSP00000358697:V145M;ENSP00000324011:V259M;ENSP00000358694:V216M;ENSP00000385388:V216M	ENSP00000324011:V259M	V	-	1	0	XPNPEP1	111633870	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.220000	0.58567	2.615000	0.88500	0.655000	0.94253	GTG	-	NULL		0.468	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	C		-		111643880	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111643880	C	T	111643880	3	4	9	1	0	0	0	0	1	0	0	0	17449	478	17	2	1277	2	XPNPEP1	10	111643880	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	4620787	111643880	23890867	194	625											
GPR123	84435	genome.wustl.edu	37	chr10	134942697	134942697	+	Frame_Shift_Del	DEL	C	C	-													cgcagctcgcgcacagacagCccccccagctctctggatgg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:134942697delC	ENST00000392607.3	+	7	1801	c.1365delC	c.(1363-1365)agcfs	p.S455fs	GPR123_ENST00000392606.2_Frame_Shift_Del_p.S358fs|GPR123_ENST00000607359.1_Frame_Shift_Del_p.S1174fs	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	455					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCACAGACAGCCCCCCCAGCT	0.697																																																	0								ENSG00000197177			13,3827		3,7,1910	9	11	11			4.8	1	10		11	14,7502		1,12,3745	no	frameshift	GPR123	NM_001083909.1		4,19,5655	A1A1,A1R,RR		0.1863,0.3385,0.2378			134942697	27,11329	2028	4038	6066	GPR123	SO:0001589	frameshift_variant	0				HGNC	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1365delC	10.37:g.134942697delC	ENSP00000376384:p.Ser455fs	Somatic	0	17	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL							pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.S1177fs	ENST00000392607.3	37	c.3522	CCDS41580.1	10																																																																																			-	NULL		0.697	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	protein_coding	OTTHUMT00000051113.2	C				134942697	1	no_errors	ENST00000607359	ensembl	human	putative	74_37	frame_shift_del	DEL	1.000	-	-	134942697	C	-	134942697	7	5	9	1	0	1	0	1	0	0	0	0	6639	738	26	0	1387	0	GPR123	10	134942697	Frame_Shift_Del	DEL	C	TCGA-3B-A9HT-01A-11D-A38Z-09	23298817	134942697	592050	195	626											
KNDC1	85442	genome.wustl.edu	37	chr10	135015334	135015334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgactgcttcggggccgacGtccacaactacgtgaaggac	12	14	0	1	rs558007261	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:135015334G>A	ENST00000304613.3	+	17	3340	c.3319G>A	c.(3319-3321)Gtc>Atc	p.V1107I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V1109I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V1042I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1107					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGGGGCCGACGTCCACAACTA	0.731													.|||	2	0.000399361	0	0	5008	,	,		15097	0		0	False		,,,				2504	0.002																0								ENSG00000171798						5	6	5					10																	135015334		2104	4140	6244	KNDC1	SO:0001583	missense	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3319G>A	10.37:g.135015334G>A	ENSP00000304437:p.Val1107Ile	Somatic	0	24	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V1109I	ENST00000304613.3	37	c.3325	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049559	0.75846	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20881	2.04;2.04;2.04	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000019	T	0.44726	0.1307	M	0.66939	2.045	0.52501	D	0.999957	D;D;P	0.89917	0.999;1.0;0.858	D;D;B	0.81914	0.987;0.995;0.204	T	0.21484	-1.0244	10	0.40728	T	0.16	-35.0466	16.2702	0.82612	0.0:0.0:1.0:0.0	.	1107;1042;1107	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	I	1107;1109;1042	ENSP00000304437:V1107I;ENSP00000357561:V1109I;ENSP00000357560:V1042I	ENSP00000304437:V1107I	V	+	1	0	KNDC1	134865324	0.975000	0.34042	0.211000	0.23655	0.311000	0.27955	2.893000	0.48633	2.524000	0.85096	0.313000	0.20887	GTC	-	NULL		0.731	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	G	NM_152643	-		135015334	1	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	SNP	0.989	A	A	135015334	G	A	135015334	3	1	9	1	0	0	0	0	1	0	0	0	8428	1145	40	1	3385	1	KNDC1	10	135015334	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	72637	135015334	519413	196	627											
ART1	417	genome.wustl.edu	37	chr11	3681429	3681429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctggacctgccttggggCccctatcaagggctactcct	10	15	2	0	rs566663445		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:3681429C>T	ENST00000250693.1	+	3	781	c.680C>T	c.(679-681)gCc>gTc	p.A227V		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	227					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TGCCTTGGGGCCCCTATCAAG	0.597													C|||	1	0.000199681	0	0	5008	,	,		17800	0		0	False		,,,				2504	0.001																0								ENSG00000129744						45	44	45					11																	3681429		2201	4298	6499	ART1	SO:0001583	missense	0			-	HGNC	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.680C>T	11.37:g.3681429C>T	ENSP00000250693:p.Ala227Val	Somatic	0	55	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	35	44.44	Q6NTD2|Q96KT9	Missense_Mutation	SNP							pfam_ART,prints_ART	p.A227V	ENST00000250693.1	37	c.680	CCDS7744.1	11	.	.	.	.	.	.	.	.	.	.	C	2.339	-0.351568	0.05173	.	.	ENSG00000129744	ENST00000250693	T	0.05319	3.46	5.41	-0.49	0.12049	.	0.432869	0.28376	N	0.015568	T	0.02888	0.0086	N	0.13371	0.34	0.21386	N	0.9997	B	0.09022	0.002	B	0.12156	0.007	T	0.44097	-0.9350	9	.	.	.	.	4.8244	0.13408	0.1442:0.4256:0.0:0.4302	.	227	P52961	NAR1_HUMAN	V	227	ENSP00000250693:A227V	.	A	+	2	0	ART1	3638005	0.001000	0.12720	0.036000	0.18154	0.990000	0.78478	-0.085000	0.11250	0.003000	0.14656	0.563000	0.77884	GCC	-	pfam_ART,prints_ART		0.597	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	protein_coding	OTTHUMT00000032765.1	C	NM_004314	-		3681429	1	no_errors	ENST00000250693	ensembl	human	known	74_37	missense	SNP	0.011	T	T	3681429	C	T	3681429	3	4	9	1	0	0	0	0	1	0	0	0	997	739	26	2	686	2	ART1	11	3681429	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		3681429	131325087	197	628											
OR56B4	196335	genome.wustl.edu	37	chr11	6129091	6129091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggattaccaggcattcatgAgtggcagcactggctctccc	12	12	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:6129091A>G	ENST00000316529.3	+	1	178	c.83A>G	c.(82-84)gAg>gGg	p.E28G	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTCATGAGTGGCAGCAC	0.517																																																	0								ENSG00000180919						77	68	71					11																	6129091		2201	4296	6497	OR56B4	SO:0001583	missense	0			-	HGNC	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.83A>G	11.37:g.6129091A>G	ENSP00000321196:p.Glu28Gly	Somatic	0	69	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	59	10.61	Q6IFD7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.E28G	ENST00000316529.3	37	c.83	CCDS31406.1	11	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827834	0.32329	.	.	ENSG00000180919	ENST00000316529	T	0.00463	7.25	4.2	-2.04	0.07343	.	3.016200	0.01838	U	0.035122	T	0.00384	0.0012	L	0.31371	0.925	0.09310	N	1	B	0.25563	0.129	B	0.26614	0.071	T	0.46048	-0.9219	10	0.33940	T	0.23	.	10.4416	0.44469	0.4653:0.0:0.5347:0.0	.	28	Q8NH76	O56B4_HUMAN	G	28	ENSP00000321196:E28G	ENSP00000321196:E28G	E	+	2	0	OR56B4	6085667	0.000000	0.05858	0.011000	0.14972	0.993000	0.82548	-1.654000	0.01984	-0.263000	0.09378	0.529000	0.55759	GAG	-	NULL		0.517	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	protein_coding	OTTHUMT00000384668.1	A	NM_001005181	-		6129091	1	no_errors	ENST00000316529	ensembl	human	known	74_37	missense	SNP	0.000	G	G	6129091	A	G	6129091	3	3	9	1	0	0	0	0	1	0	0	0	11140	304	11	5	85	5	OR56B4	11	6129091	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	2447662	6129091	128877425	198	629											
TRIM3	10612	genome.wustl.edu	37	chr11	6478144	6478144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgctctcgcatgtgcttgCgcaccagcaacacctccggg	11	17	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:6478144C>A	ENST00000525074.1	-	6	1206	c.812G>T	c.(811-813)cGc>cTc	p.R271L	TRIM3_ENST00000345851.3_Missense_Mutation_p.R271L|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R152L|TRIM3_ENST00000359518.3_Missense_Mutation_p.R271L|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	271					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTGCTTGCGCACCAGCAA	0.647																																					Melanoma(6;5 510 1540 25169 29084)												0								ENSG00000110171						56	54	55					11																	6478144		2201	4295	6496	TRIM3	SO:0001583	missense	0			-	HGNC	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.812G>T	11.37:g.6478144C>A	ENSP00000433102:p.Arg271Leu	Somatic	0	75	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.18	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP							pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R271L	ENST00000525074.1	37	c.812	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971677	0.53614	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344	T;T;T;D	0.83163	-0.58;-0.58;-0.58;-1.69	5.27	5.27	0.74061	B-box, C-terminal (1);	0.110778	0.64402	D	0.000015	T	0.71341	0.3328	L	0.29908	0.895	0.41573	D	0.98869	B;B;B	0.30686	0.102;0.29;0.105	B;B;B	0.29942	0.109;0.081;0.081	T	0.68131	-0.5490	10	0.30078	T	0.28	-15.2088	8.2335	0.31612	0.0:0.8301:0.0:0.1699	.	152;152;271	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	L	271;271;271;271;260;271;152	ENSP00000433102:R271L;ENSP00000340797:R271L;ENSP00000352508:R271L;ENSP00000445460:R152L	ENSP00000337094:R260L	R	-	2	0	TRIM3	6434720	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.071000	0.50041	2.472000	0.83506	0.563000	0.77884	CGC	-	smart_Bbox_C		0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	protein_coding	OTTHUMT00000384224.2	C	NM_006458	-		6478144	-1	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6478144	C	A	6478144	3	1	9	1	0	0	0	0	1	0	0	0	16511	768	27	3	1450	3	TRIM3	11	6478144	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	349053	6478144	128528372	199	630											
TAF10	6881	genome.wustl.edu	37	chr11	6632451	6632451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggagctgccggaggccGtgcccttcattttgcagtgc	14	13	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:6632451G>A	ENST00000299424.4	-	4	1013	c.536C>T	c.(535-537)aCg>aTg	p.T179M	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	179					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCGGAGGCCGTGCCCTTCAT	0.498																																																	0								ENSG00000166337						70	73	72					11																	6632451		2201	4296	6497	TAF10	SO:0001583	missense	0			-	HGNC	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.536C>T	11.37:g.6632451G>A	ENSP00000299424:p.Thr179Met	Somatic	0	30	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	O00703|Q13175|Q6FH13	Missense_Mutation	SNP							pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.T179M	ENST00000299424.4	37	c.536	CCDS7769.1	11	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121279	0.56613	.	.	ENSG00000166337	ENST00000299424	T	0.46819	0.86	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	L	0.36672	1.1	0.80722	D	1	P	0.48640	0.913	B	0.40134	0.32	T	0.36407	-0.9749	10	0.48119	T	0.1	-5.9772	15.8045	0.78483	0.0:0.0:1.0:0.0	.	179	Q12962	TAF10_HUMAN	M	179	ENSP00000299424:T179M	ENSP00000299424:T179M	T	-	2	0	TAF10	6589027	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.369000	0.97156	2.589000	0.87451	0.655000	0.94253	ACG	-	pirsf_TFIID_30kDa		0.498	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	protein_coding	OTTHUMT00000257259.2	G	NM_006284	-		6632451	-1	no_errors	ENST00000299424	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6632451	G	A	6632451	3	1	9	1	0	0	0	0	1	0	0	0	15521	1145	40	1	128	1	TAF10	11	6632451	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	154307	6632451	128374065	200	631											
TMEM41B	440026	genome.wustl.edu	37	chr11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-													ttacctagaaaagtaccaatAaaaaaaactttcaatggcac							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:9308018delA	ENST00000528080.1	-	6	1028	c.690delT	c.(688-690)tttfs	p.F230fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	230					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAGTACCAATAAAAAAAACTT	0.363																																																	0								ENSG00000166471						121	119	119					11																	9308018		2201	4296	6497	TMEM41B	SO:0001589	frameshift_variant	0				HGNC	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.690delT	11.37:g.9308018delA	ENSP00000433126:p.Phe230fs	Somatic	0	92	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	89	10.10	D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Del	DEL							pfam_SNARE_assoc	p.F230fs	ENST00000528080.1	37	c.690	CCDS31424.1	11																																																																																			-	pfam_SNARE_assoc		0.363	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	protein_coding	OTTHUMT00000385940.2	A				9308018	-1	no_errors	ENST00000299596	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	9308018	A	-	9308018	7	5	9	1	0	1	0	1	0	0	0	0	16172	359	13	0	193	0	TMEM41B	11	9308018	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	2675567	9308018	125698498	201	632											
SPTY2D1	144108	genome.wustl.edu	37	chr11	18638500	18638501	+	Frame_Shift_Ins	INS	-	-	T													acacctttaacttttgggtcINStttttttggaggccccactg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:18638500_18638501insT	ENST00000336349.5	-	2	331_332	c.96_97insA	c.(94-99)aaagacfs	p.D33fs	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	33										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGAG	0.347																																																	0								ENSG00000179119																																			SPTY2D1	SO:0001589	frameshift_variant	0				HGNC	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.97dupA	11.37:g.18638507_18638507dupT	ENSP00000337991:p.Asp33fs	Somatic	0	72	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	75	14.77	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Ins	INS							pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.D32fs	ENST00000336349.5	37	c.97_96	CCDS31441.1	11																																																																																			-	NULL		0.347	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	protein_coding	OTTHUMT00000395941.1	-	NM_194285			18638501	-1	no_errors	ENST00000336349	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	18638501	-	T	18638500	7	5	9	1	0	1	1	0	0	0	0	0	15133	913	32	0	1980	0	SPTY2D1	11	18638500	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	9330482	18638500	116368016	202	633											
BBOX1	8424	genome.wustl.edu	37	chr11	27077051	27077051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctctggtatgatgaggAagagtctctctacccagctg	11	10	3	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:27077051A>G	ENST00000529202.1	+	2	413	c.74A>G	c.(73-75)gAa>gGa	p.E25G	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.E25G|BBOX1_ENST00000263182.3_Missense_Mutation_p.E25G|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Missense_Mutation_p.E25G			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	25					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TATGATGAGGAAGAGTCTCTC	0.493																																																	0								ENSG00000129151						107	98	101					11																	27077051		2202	4299	6501	BBOX1	SO:0001583	missense	0			-	HGNC	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.74A>G	11.37:g.27077051A>G	ENSP00000435781:p.Glu25Gly	Somatic	0	44	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP							pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.E25G	ENST00000529202.1	37	c.74	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	A	3.248	-0.153847	0.06585	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.94	-6.68	0.01778	Domain of unknown function, DUF971 (1);	0.487079	0.25194	N	0.032423	T	0.42086	0.1187	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53933	-0.8368	10	0.22109	T	0.4	.	2.7872	0.05377	0.398:0.1383:0.3291:0.1346	.	25	O75936	BODG_HUMAN	G	25	ENSP00000435781:E25G;ENSP00000263182:E25G;ENSP00000434918:E25G;ENSP00000433772:E25G	ENSP00000263182:E25G	E	+	2	0	BBOX1	27033627	0.000000	0.05858	0.006000	0.13384	0.404000	0.30871	-0.361000	0.07612	-0.755000	0.04709	-0.254000	0.11334	GAA	-	pfam_DUF971,tigrfam_2-oxoglut_dOase		0.493	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	protein_coding	OTTHUMT00000387946.1	A	NM_003986	-		27077051	1	no_errors	ENST00000263182	ensembl	human	known	74_37	missense	SNP	0.001	G	G	27077051	A	G	27077051	3	3	9	1	0	0	0	0	1	0	0	0	1334	246	9	5	76	5	BBOX1	11	27077051	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	8438551	27077051	107929465	203	634											
NAT10	55226	genome.wustl.edu	37	chr11	34156835	34156835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattcacaccgtaagcagCgaggtaagcatctttcgaca	9	10	2	0	rs372918376		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:34156835C>T	ENST00000257829.3	+	19	2231	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.S603S	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	675	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCGTAAGCAGCGAGGTAAGCA	0.502																																																	0								ENSG00000135372	C	,	0,4404		0,0,2202	127	108	114		1809,2025	-6.5	0.6	11		114	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	NAT10	NM_001144030.1,NM_024662.2	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	603/954,675/1026	34156835	1,12999	2202	4298	6500	NAT10	SO:0001819	synonymous_variant	0			-	HGNC	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2025C>T	11.37:g.34156835C>T		Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP							pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.S675	ENST00000257829.3	37	c.2025	CCDS7889.1	11																																																																																			-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.502	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	protein_coding	OTTHUMT00000388693.1	C	NM_024662	-		34156835	1	no_errors	ENST00000257829	ensembl	human	known	74_37	silent	SNP	0.864	T	T	34156835	C	T	34156835	2	4	9	1	0	0	0	0	0	0	0	1	10176	767	27	1		1	NAT10	11	34156835	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	7079784	34156835	100849681	204	635											
OR4S1	256148	genome.wustl.edu	37	chr11	48328423	48328423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatccttatcatttcctatGttatcatcttactgaaccta	2	10	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:48328423G>A	ENST00000319988.1	+	1	649	c.649G>A	c.(649-651)Gtt>Att	p.V217I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	217						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(12)|ovary(1)|skin(3)	21						CATTTCCTATGTTATCATCTT	0.458																																																	0								ENSG00000176555						179	155	163					11																	48328423		2201	4298	6499	OR4S1	SO:0001583	missense	0			-	HGNC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.649G>A	11.37:g.48328423G>A	ENSP00000321447:p.Val217Ile	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	Q6IFB4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V217I	ENST00000319988.1	37	c.649	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432550	0.04669	.	.	ENSG00000176555	ENST00000319988	T	0.00224	8.51	5.02	-5.36	0.02689	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.01134	-0.995	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16837	-1.0389	9	0.10111	T	0.7	.	13.6716	0.62430	0.6892:0.0:0.3108:0.0	.	217	Q8NGB4	OR4S1_HUMAN	I	217	ENSP00000321447:V217I	ENSP00000321447:V217I	V	+	1	0	OR4S1	48284999	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-4.155000	0.00284	-0.996000	0.03455	-0.140000	0.14226	GTT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	protein_coding	OTTHUMT00000390556.1	G	NM_001004725	-		48328423	1	no_errors	ENST00000319988	ensembl	human	known	74_37	missense	SNP	0.000	A	A	48328423	G	A	48328423	3	1	9	1	0	0	0	0	1	0	0	0	11084	1377	48	2	651	2	OR4S1	11	48328423	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	14171588	48328423	86678093	205	636											
OR5D18	219438	genome.wustl.edu	37	chr11	55587910	55587910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaactccaaaaactccAggcacacagtcaaagtggcc	7	15	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:55587910A>G	ENST00000333976.4	+	1	825	c.805A>G	c.(805-807)Agg>Ggg	p.R269G		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	269						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(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CAAAAACTCCAGGCACACAGT	0.502																																																	0								ENSG00000186119						90	86	88					11																	55587910		2200	4296	6496	OR5D18	SO:0001583	missense	0			-	HGNC	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.805A>G	11.37:g.55587910A>G	ENSP00000335025:p.Arg269Gly	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R269G	ENST00000333976.4	37	c.805	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	6.433	0.447938	0.12223	.	.	ENSG00000186119	ENST00000333976	T	0.00145	8.67	4.81	0.706	0.18133	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000536	T	0.00073	0.0002	N	0.16130	0.375	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.22906	-1.0203	10	0.51188	T	0.08	-11.5692	6.5486	0.22420	0.5606:0.2962:0.0:0.1432	.	269	Q8NGL1	OR5DI_HUMAN	G	269	ENSP00000335025:R269G	ENSP00000335025:R269G	R	+	1	2	OR5D18	55344486	0.000000	0.05858	0.981000	0.43875	0.164000	0.22412	-1.695000	0.01913	0.258000	0.21686	-0.461000	0.05368	AGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	protein_coding	OTTHUMT00000391515.1	A	NM_001001952	-		55587910	1	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	SNP	0.096	G	G	55587910	A	G	55587910	3	3	9	1	0	0	0	0	1	0	0	0	11159	179	7	5	807	5	OR5D18	11	55587910	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	7259487	55587910	79418606	206	637											
TMEM132A	54972	genome.wustl.edu	37	chr11	60702157	60702157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtggcgccacacgcccGcgtgctggactcgcgtgtag	14	16	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:60702157G>A	ENST00000453848.2	+	9	1915	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R587H			Q24JP5	T132A_HUMAN	transmembrane protein 132A	586						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCACACGCCCGCGTGCTGGAC	0.716																																																	0								ENSG00000006118						15	18	17					11																	60702157		2192	4280	6472	TMEM132A	SO:0001583	missense	0			-	HGNC	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1757G>A	11.37:g.60702157G>A	ENSP00000405823:p.Arg586His	Somatic	0	19	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP							NULL	p.R587H	ENST00000453848.2	37	c.1760	CCDS44618.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.891|5.891	0.348521|0.348521	0.11126|0.11126	.|.	.|.	ENSG00000006118|ENSG00000006118	ENST00000540112|ENST00000444690;ENST00000453848;ENST00000005286	.|T;T	.|0.41065	.|1.01;1.01	4.01|4.01	1.09|1.09	0.20402|0.20402	.|.	.|0.860722	.|0.10050	.|N	.|0.722341	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.38953|0.38953	1.18|1.18	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17465	.|0.017;0.022	.|B;B	.|0.10450	.|0.003;0.005	T|T	0.31530|0.31530	-0.9940|-0.9940	5|10	.|0.87932	.|D	.|0	.|.	4.6181|4.6181	0.12437|0.12437	0.2582:0.0:0.5894:0.1524|0.2582:0.0:0.5894:0.1524	.|.	.|586;587	.|Q24JP5;Q24JP5-2	.|T132A_HUMAN;.	T|H	15|337;586;587	.|ENSP00000405823:R586H;ENSP00000005286:R587H	.|ENSP00000005286:R587H	A|R	+|+	1|2	0|0	TMEM132A|TMEM132A	60458733|60458733	0.009000|0.009000	0.17119|0.17119	0.004000|0.004000	0.12327|0.12327	0.058000|0.058000	0.15608|0.15608	0.531000|0.531000	0.23052|0.23052	0.254000|0.254000	0.21573|0.21573	-0.680000|-0.680000	0.03767|0.03767	GCG|CGC	-	NULL		0.716	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	protein_coding	OTTHUMT00000396352.1	G	NM_017870	-		60702157	1	no_errors	ENST00000005286	ensembl	human	known	74_37	missense	SNP	0.003	A	A	60702157	G	A	60702157	3	1	9	1	0	0	0	0	1	0	0	0	16052	1087	38	1	1794	1	TMEM132A	11	60702157	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	5114247	60702157	74304359	207	638											
GPHA2	170589	genome.wustl.edu	37	chr11	64702261	64702261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctagtagcgagagaggCgacacatgtcacactggcag	15	9	1	1	rs573463788		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:64702261C>T	ENST00000279168.2	-	4	428	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GPHA2_ENST00000533257.1_Missense_Mutation_p.R125H	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	125						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						GCGAGAGAGGCGACACATGTC	0.597													C|||	1	0.000199681	0	0	5008	,	,		16219	0		0.001	False		,,,				2504	0																0								ENSG00000149735						109	98	101					11																	64702261		2201	4297	6498	GPHA2	SO:0001583	missense	0			-	HGNC	AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"glycoprotein alpha 2", "cysteine knot protein"	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.374G>A	11.37:g.64702261C>T	ENSP00000279168:p.Arg125His	Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	Q52LE2	Missense_Mutation	SNP							pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone	p.R125H	ENST00000279168.2	37	c.374	CCDS8086.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446678	0.63178	.	.	ENSG00000149735	ENST00000279168;ENST00000533257	T;T	0.30714	1.52;1.52	4.52	4.52	0.55395	Cystine knot, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.27663	0.0680	L	0.35723	1.085	0.80722	D	1	D	0.54772	0.968	B	0.42798	0.398	T	0.05068	-1.0908	10	0.46703	T	0.11	.	15.5738	0.76359	0.0:1.0:0.0:0.0	.	125	Q96T91	GPHA2_HUMAN	H	125	ENSP00000279168:R125H;ENSP00000432918:R125H	ENSP00000279168:R125H	R	-	2	0	GPHA2	64458837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.869000	0.56062	2.447000	0.82792	0.655000	0.94253	CGC	-	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone		0.597	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPHA2	protein_coding	OTTHUMT00000385470.1	C	NM_130769	-		64702261	-1	no_errors	ENST00000279168	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64702261	C	T	64702261	3	4	9	1	0	0	0	0	1	0	0	0	6610	768	27	1	19	1	GPHA2	11	64702261	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	4000104	64702261	70304255	208	639											
FGF3	2248	genome.wustl.edu	37	chr11	69625282	69625282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaggacttctgtgtgcGgcgggtcttgaagcccctgc	16	11	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:69625282G>A	ENST00000334134.2	-	3	601	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	171					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|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)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TTCTGTGTGCGGCGGGTCTTG	0.682																																																	0								ENSG00000186895						21	24	23					11																	69625282		2191	4268	6459	FGF3	SO:0001583	missense	0			-	HGNC		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.511C>T	11.37:g.69625282G>A	ENSP00000334122:p.Arg171Cys	Somatic	0	130	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	73	39.67	Q0VG69	Missense_Mutation	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R171C	ENST00000334134.2	37	c.511	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850208	0.71719	.	.	ENSG00000186895	ENST00000334134	T	0.68331	-0.32	3.92	2.91	0.33838	.	0.148172	0.64402	D	0.000019	T	0.79052	0.4381	M	0.82132	2.575	0.58432	D	0.99999	D	0.89917	1.0	D	0.75484	0.986	T	0.79708	-0.1690	9	.	.	.	.	9.3161	0.37934	0.0:0.0:0.5255:0.4745	.	171	P11487	FGF3_HUMAN	C	171	ENSP00000334122:R171C	.	R	-	1	0	FGF3	69334463	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.242000	0.51384	1.714000	0.51371	0.462000	0.41574	CGC	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.682	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	protein_coding	OTTHUMT00000396835.1	G	NM_005247	-		69625282	-1	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69625282	G	A	69625282	3	1	9	1	0	0	0	0	1	0	0	0	5855	1116	39	1	212	1	FGF3	11	69625282	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4923021	69625282	65381234	209	640											
SHANK2	22941	genome.wustl.edu	37	chr11	70332268	70332268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccatggagcccaccGcgacgatggttctgccgggc	12	16	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:70332268G>A	ENST00000423696.2	-	15	3029	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A781V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1378V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A782V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	998					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGAGCCCACCGCGACGATGGT	0.592																																																	0								ENSG00000162105						50	55	53					11																	70332268		2200	4294	6494	SHANK2	SO:0001583	missense	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2993C>T	11.37:g.70332268G>A	ENSP00000394536:p.Ala998Val	Somatic	0	45	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A1378V	ENST00000423696.2	37	c.4133		11	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474699	0.26511	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42131	2.27;2.27;2.99;0.98;2.4;2.4	5.2	5.2	0.72013	.	0.364207	0.30752	N	0.008944	T	0.42607	0.1210	L	0.60455	1.87	0.80722	D	1	B;B;B	0.27791	0.012;0.189;0.005	B;B;B	0.17433	0.003;0.018;0.007	T	0.36138	-0.9760	10	0.49607	T	0.09	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	998;1377;782	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	782;781;656;1378;998;1016;1001	ENSP00000399423:A782V;ENSP00000386491:A781V;ENSP00000402944:A656V;ENSP00000345193:A1378V;ENSP00000394536:A998V;ENSP00000294018:A1001V	ENSP00000294018:A1001V	A	-	2	0	SHANK2	70009916	0.960000	0.32886	0.975000	0.42487	0.421000	0.31385	4.044000	0.57361	2.423000	0.82170	0.561000	0.74099	GCG	-	NULL		0.592	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		G	NM_012309	-		70332268	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	SNP	0.492	A	A	70332268	G	A	70332268	3	1	9	1	0	0	0	0	1	0	0	0	14273	1087	38	1	1427	1	SHANK2	11	70332268	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	706986	70332268	64674248	210	641											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73021102	73021102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcctcagagaccctgacGcttctcagtttcctgcgctc	8	16	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:73021102G>A	ENST00000263674.3	+	1	1769	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	473					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGACCCTGACGCTTCTCAGTT	0.567																																																	0								ENSG00000110237						71	77	75					11																	73021102		2200	4293	6493	ARHGEF17	SO:0001819	synonymous_variant	0			-	HGNC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1419G>A	11.37:g.73021102G>A		Somatic	0	110	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	73	27.00	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.T473	ENST00000263674.3	37	c.1419	CCDS8221.1	11																																																																																			-	NULL		0.567	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	protein_coding	OTTHUMT00000397365.1	G	NM_014786	-		73021102	1	no_errors	ENST00000263674	ensembl	human	known	74_37	silent	SNP	0.060	A	A	73021102	G	A	73021102	2	1	9	1	0	0	0	0	0	0	0	1	900	1074	38	1		1	ARHGEF17	11	73021102	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2688834	73021102	61985414	211	642											
EXPH5	23086	genome.wustl.edu	37	chr11	108384793	108384793	+	Frame_Shift_Del	DEL	A	A	-													atgtcctttctcttggccccAaaaaggaccttgtccaaatc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:108384793delA	ENST00000265843.4	-	6	1551	c.1441delT	c.(1441-1443)tggfs	p.W481fs	EXPH5_ENST00000428840.1_Frame_Shift_Del_p.W405fs|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.W474fs|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.W293fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	481					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTTGGCCCCAAAAAGGACCT	0.428																																																	0								ENSG00000110723						101	102	102					11																	108384793		2201	4298	6499	EXPH5	SO:0001589	frameshift_variant	0				HGNC		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1441delT	11.37:g.108384793delA	ENSP00000265843:p.Trp481fs	Somatic	0	42	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL							superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.W481fs	ENST00000265843.4	37	c.1441	CCDS8341.1	11																																																																																			-	NULL		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	protein_coding	OTTHUMT00000390279.1	A	NM_015065			108384793	-1	no_errors	ENST00000265843	ensembl	human	known	74_37	frame_shift_del	DEL	0.808	-	-	108384793	A	-	108384793	7	5	9	1	0	1	0	1	0	0	0	0	5324	130	5	0	4532	0	EXPH5	11	108384793	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	35363691	108384793	26621723	212	643											
DDX10	1662	genome.wustl.edu	37	chr11	108788634	108788635	+	In_Frame_Ins	INS	-	-	TGA													gaagcctttctggattggagINStgatgatgatgatgatgatg					rs373041499		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:108788634_108788635insTGA	ENST00000322536.3	+	17	2468_2469	c.2339_2340insTGA	c.(2338-2343)agtgat>agTGAtgat	p.788_789insD	DDX10_ENST00000526794.1_In_Frame_Ins_p.788_789insD	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CTGGATTGGAGtgatgatgatg	0.356			T	NUP98	AML*																																			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0								ENSG00000178105																																			DDX10	SO:0001652	inframe_insertion	0				HGNC	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"DEAD-boxes"	2735	protein-coding gene	gene with protein product		601235	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2361_2363dupTGA	11.37:g.108788641_108788643dupTGA	ENSP00000314348:p.Asp788_Asp788dup	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B2RCQ3|Q5BJD8	In_Frame_Ins	INS							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.784in_frame_insD	ENST00000322536.3	37	c.2339_2340	CCDS8342.1	11																																																																																			-	NULL		0.356	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	protein_coding	OTTHUMT00000390343.1	-	NM_004398			108788635	1	no_errors	ENST00000322536	ensembl	human	known	74_37	in_frame_ins	INS	1.000:0.998	TGA	TGA	108788635	-	TGA	108788634	7	5	9	1	0	1	1	0	0	0	0	0	4344	1029	36	0	2405	0	DDX10	11	108788634	In_Frame_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	403841	108788634	26217882	213	644											
NCAM1	4684	genome.wustl.edu	37	chr11	113102894	113102894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgttatttattgcagatGccccaaagctacagggccct	8	11	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:113102894G>A	ENST00000533760.1	+	10	1458	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.A405T|NCAM1_ENST00000401611.2_Missense_Mutation_p.A414T	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	415	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TATTGCAGATGCCCCAAAGCT	0.527																																																	0								ENSG00000149294						44	45	44					11																	113102894		1917	4143	6060	NCAM1	SO:0001583	missense	0			-	HGNC		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.859G>A	11.37:g.113102894G>A	ENSP00000473281:p.Ala287Thr	Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	24.14	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.A405T	ENST00000533760.1	37	c.1213		11	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431575	0.43122	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.73789	-0.78;-0.78	5.51	4.59	0.56863	Immunoglobulin-like fold (1);	0.066163	0.64402	U	0.000012	T	0.70996	0.3288	.	.	.	0.80722	D	1	P;P;P;P	0.43885	0.729;0.82;0.597;0.802	B;B;B;B	0.39465	0.203;0.3;0.158;0.3	T	0.75679	-0.3234	9	0.72032	D	0.01	-9.1324	15.9614	0.79933	0.0:0.0:0.8638:0.1361	.	415;405;415;405	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	T	287;414;405	ENSP00000384055:A414T;ENSP00000318472:A405T	ENSP00000318472:A405T	A	+	1	0	NCAM1	112608104	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	4.137000	0.58010	1.444000	0.47605	0.460000	0.39030	GCC	-	NULL		0.527	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	protein_coding	OTTHUMT00000394068.2	G	NM_000615	-		113102894	1	no_errors	ENST00000316851	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113102894	G	A	113102894	3	1	9	1	0	0	0	0	1	0	0	0	10204	1319	46	2	1286	2	NCAM1	11	113102894	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4314260	113102894	21903622	214	645											
KCNA5	3741	genome.wustl.edu	37	chr12	5153711	5153711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggctgcgctttgagaCgcagctgggcaccctggcgc	15	15	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:5153711C>T	ENST00000252321.3	+	1	627	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	133					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)	p.T133R(1)		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)	CGCTTTGAGACGCAGCTGGGC	0.677																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000130037						30	30	30					12																	5153711		2203	4300	6503	KCNA5	SO:0001583	missense	0			-	HGNC	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.398C>T	12.37:g.5153711C>T	ENSP00000252321:p.Thr133Met	Somatic	0	64	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.T133M	ENST00000252321.3	37	c.398	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030872	0.75504	.	.	ENSG00000130037	ENST00000252321	T	0.80824	-1.42	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.92954	0.7758	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95153	0.8274	10	0.87932	D	0	.	16.8208	0.85745	0.0:1.0:0.0:0.0	.	133	P22460	KCNA5_HUMAN	M	133	ENSP00000252321:T133M	ENSP00000252321:T133M	T	+	2	0	KCNA5	5023972	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.592000	0.82676	2.443000	0.82685	0.511000	0.50034	ACG	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.5		0.677	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	protein_coding	OTTHUMT00000398925.2	C	NM_002234	-		5153711	1	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5153711	C	T	5153711	3	4	9	1	0	0	0	0	1	0	0	0	8008	536	19	1	400	1	KCNA5	12	5153711	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		5153711	128698184	215	646											
ARID2	196528	genome.wustl.edu	37	chr12	46245627	46245627	+	Frame_Shift_Del	DEL	A	A	-													ctcccccattcaaaggtgatAaaataatttgccaaaaggag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:46245627delA	ENST00000334344.6	+	15	3893	c.3721delA	c.(3721-3723)aaafs	p.K1241fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.K851fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1092fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1241					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)			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)		CAAAGGTGATAAAATAATTTG	0.463			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0								ENSG00000189079						66	62	63					12																	46245627		2203	4300	6503	ARID2	SO:0001589	frameshift_variant	0				HGNC		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.3721delA	12.37:g.46245627delA	ENSP00000335044:p.Lys1241fs	Somatic	0	37	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL							pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.I1242fs	ENST00000334344.6	37	c.3721	CCDS31783.1	12																																																																																			-	NULL		0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	A	XM_350875			46245627	1	no_errors	ENST00000334344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	46245627	A	-	46245627	7	5	9	1	0	1	0	1	0	0	0	0	915	363	13	0	3779	0	ARID2	12	46245627	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	41091916	46245627	87606268	216	647											
POU6F1	5463	genome.wustl.edu	37	chr12	51585487	51585487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggatcttaaagttcttgGcaaactcccggatctcttct	8	12	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:51585487G>A	ENST00000389243.4	-	10	1391	c.452C>T	c.(451-453)gCc>gTc	p.A151V	POU6F1_ENST00000550824.1_Missense_Mutation_p.A151V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A151V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	151	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AAAGTTCTTGGCAAACTCCCG	0.562																																																	0								ENSG00000184271						113	111	112					12																	51585487		2203	4300	6503	POU6F1	SO:0001583	missense	0			-	HGNC	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.452C>T	12.37:g.51585487G>A	ENSP00000373895:p.Ala151Val	Somatic	0	75	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	76	20.83	Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A151V	ENST00000389243.4	37	c.452	CCDS31803.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.635857	0.96682	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.87571	-2.27;-2.27;-2.27	5.28	5.28	0.74379	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.163213	0.53938	D	0.000047	D	0.92227	0.7535	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92935	0.6367	10	0.87932	D	0	.	17.6761	0.88232	0.0:0.0:1.0:0.0	.	151	Q14863	PO6F1_HUMAN	V	151	ENSP00000373895:A151V;ENSP00000330190:A151V;ENSP00000448389:A151V	ENSP00000330190:A151V	A	-	2	0	POU6F1	49871754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.476000	0.83614	0.561000	0.74099	GCC	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific		0.562	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	protein_coding	OTTHUMT00000405126.1	G	NM_002702	-		51585487	-1	no_errors	ENST00000333640	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51585487	G	A	51585487	3	1	9	1	0	0	0	0	1	0	0	0	12286	1203	42	2	461	2	POU6F1	12	51585487	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	5339860	51585487	82266408	217	648											
KRT85	3891	genome.wustl.edu	37	chr12	52757866	52757866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctcttcatagaggcGcctcaggaagctagactcct	8	14	3	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:52757866G>A	ENST00000257901.3	-	4	847	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	KRT85_ENST00000544265.1_Missense_Mutation_p.R46C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	258	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATAGAGGCGCCTCAGGAAG	0.612																																																	0								ENSG00000135443						99	101	100					12																	52757866		2203	4300	6503	KRT85	SO:0001583	missense	0			-	HGNC	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.772C>T	12.37:g.52757866G>A	ENSP00000257901:p.Arg258Cys	Somatic	0	21	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	Q9NSB1	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R258C	ENST00000257901.3	37	c.772	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096755	0.56075	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	T;T	0.77620	-0.99;-1.11	4.89	1.93	0.25924	Filament (1);	0.637772	0.14049	N	0.344903	T	0.64238	0.2580	L	0.49571	1.57	0.09310	N	0.999996	B	0.14438	0.01	B	0.15484	0.013	T	0.42310	-0.9459	10	0.15066	T	0.55	.	2.9225	0.05773	0.0877:0.3084:0.356:0.2479	.	258	P78386	KRT85_HUMAN	C	258;46	ENSP00000257901:R258C;ENSP00000440240:R46C	ENSP00000257901:R258C	R	-	1	0	KRT85	51044133	0.000000	0.05858	0.999000	0.59377	0.973000	0.67179	-1.244000	0.02902	1.274000	0.44362	0.555000	0.69702	CGC	-	pfam_IF		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	protein_coding	OTTHUMT00000405184.1	G	NM_002283	-		52757866	-1	no_errors	ENST00000257901	ensembl	human	known	74_37	missense	SNP	0.125	A	A	52757866	G	A	52757866	3	1	9	1	0	0	0	0	1	0	0	0	8501	1087	38	1	775	1	KRT85	12	52757866	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1172379	52757866	81094029	218	649											
KRT6A	3853	genome.wustl.edu	37	chr12	52886583	52886583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggatgcctccagggggGcacacagggaagccagggcc	16	12	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:52886583G>A	ENST00000330722.6	-	1	458	c.390C>T	c.(388-390)tgC>tgT	p.C130C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	130	Head.				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)		CTCCAGGGGGGCACACAGGGA	0.637																																																	0								ENSG00000205420						55	53	54					12																	52886583		2203	4296	6499	KRT6A	SO:0001819	synonymous_variant	0			-	HGNC	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.390C>T	12.37:g.52886583G>A		Somatic	0	75	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.C130	ENST00000330722.6	37	c.390	CCDS41786.1	12																																																																																			-	NULL		0.637	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	protein_coding	OTTHUMT00000404978.2	G	NM_005554	-		52886583	-1	no_errors	ENST00000330722	ensembl	human	known	74_37	silent	SNP	1.000	A	A	52886583	G	A	52886583	2	1	9	1	0	0	0	0	0	0	0	1	8482	1195	42	2		2	KRT6A	12	52886583	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	128717	52886583	80965312	219	650											
SOAT2	8435	genome.wustl.edu	37	chr12	53509269	53509269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctgtccaccctgttggCgccgtaccaggccctacggc	11	16	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:53509269C>T	ENST00000301466.3	+	6	599	c.539C>T	c.(538-540)gCg>gTg	p.A180V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	180					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACCCTGTTGGCGCCGTACCAG	0.672																																																	0								ENSG00000167780						46	46	46					12																	53509269		2203	4300	6503	SOAT2	SO:0001583	missense	0			-	HGNC	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.539C>T	12.37:g.53509269C>T	ENSP00000301466:p.Ala180Val	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP							pfam_MBOAT_fam	p.A180V	ENST00000301466.3	37	c.539	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	C	5.298	0.240320	0.10023	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.73363	2.59;-0.74	5.61	-10.0	0.00425	.	0.842743	0.10580	N	0.658004	T	0.36936	0.0985	N	0.00742	-1.23	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52208	-0.8606	10	0.02654	T	1	0.0423	21.523	0.99955	0.0:0.1227:0.0:0.8773	.	180	O75908	SOAT2_HUMAN	V	160;180	ENSP00000450120:A160V;ENSP00000301466:A180V	ENSP00000301466:A180V	A	+	2	0	SOAT2	51795536	0.011000	0.17503	0.026000	0.17262	0.695000	0.40330	-0.023000	0.12456	-2.135000	0.00811	-1.105000	0.02106	GCG	-	pfam_MBOAT_fam		0.672	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	protein_coding	OTTHUMT00000405817.1	C		-		53509269	1	no_errors	ENST00000301466	ensembl	human	known	74_37	missense	SNP	0.042	T	T	53509269	C	T	53509269	3	4	9	1	0	0	0	0	1	0	0	0	14919	768	27	1	561	1	SOAT2	12	53509269	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	622686	53509269	80342626	220	651											
PPM1H	57460	genome.wustl.edu	37	chr12	63042336	63042336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcgtctcctgagcccagtCggtcattagatatccgccat	9	13	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:63042336C>T	ENST00000228705.6	-	10	1778	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	snoU13_ENST00000459527.1_RNA|PPM1H_ENST00000551214.1_5'Flank	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	493	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGAGCCCAGTCGGTCATTAGA	0.522																																																	0								ENSG00000111110						83	86	85					12																	63042336		2050	4206	6256	PPM1H	SO:0001583	missense	0			-	HGNC	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1478G>A	12.37:g.63042336C>T	ENSP00000228705:p.Arg493Gln	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	22	45.00	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP							pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R493Q	ENST00000228705.6	37	c.1478	CCDS44934.1	12	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554684	0.86231	.	.	ENSG00000111110	ENST00000228705	T	0.27402	1.67	5.93	5.93	0.95920	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.52573	1.65	0.80722	D	1	D	0.57571	0.98	P	0.48114	0.567	T	0.03315	-1.1049	9	.	.	.	7.6953	20.3507	0.98813	0.0:1.0:0.0:0.0	.	493	Q9ULR3	PPM1H_HUMAN	Q	493	ENSP00000228705:R493Q	.	R	-	2	0	PPM1H	61328603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.207000	0.77899	2.808000	0.96608	0.655000	0.94253	CGA	-	superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.522	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	protein_coding	OTTHUMT00000406760.2	C	NM_020700	-		63042336	-1	no_errors	ENST00000228705	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63042336	C	T	63042336	3	4	9	1	0	0	0	0	1	0	0	0	12346	884	31	1	70	1	PPM1H	12	63042336	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	9533067	63042336	70809559	221	652											
CCDC41	10154	genome.wustl.edu	37	chr12	94703716	94703716	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgaggaggaaatggtAgttccatgcttggaaccatg	13	6	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:94703716A>G	ENST00000258526.4	+	0	7346				CCDC41_ENST00000397809.5_Missense_Mutation_p.L660P|CCDC41_ENST00000339839.5_Missense_Mutation_p.L660P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAAATGGTAGTTCCATGCT	0.358																																																	0								ENSG00000173588						173	160	164					12																	94703716		1878	4102	5980	CCDC41	SO:0001628	intergenic_variant	0			-	HGNC	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235		12.37:g.94703716A>G		Somatic	0	78	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	83	32.52	Q59H25	Missense_Mutation	SNP							NULL	p.L660P	ENST00000258526.4	37	c.1979	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	A	2.723	-0.266128	0.05754	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809	T;T	0.50001	0.76;0.76	5.81	4.68	0.58851	.	.	.	.	.	T	0.28001	0.0690	N	0.12182	0.205	0.20403	N	0.999904	B	0.09022	0.002	B	0.12156	0.007	T	0.05801	-1.0863	9	0.45353	T	0.12	-0.2876	5.7018	0.17887	0.8141:0.0:0.1859:0.0	.	652	Q9Y592	CCD41_HUMAN	P	124;660;660	ENSP00000344655:L660P;ENSP00000380911:L660P	ENSP00000344655:L660P	L	-	2	0	CCDC41	93227847	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	0.833000	0.27504	2.218000	0.71995	0.377000	0.23210	CTA	-	NULL		0.358	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC41	protein_coding	OTTHUMT00000408126.2	A		-		94703716	-1	no_errors	ENST00000339839	ensembl	human	known	74_37	missense	SNP	0.005	G	G	94703716	A	G	94703716	1	3	9	0	1	0	0	0	0	0	0	0	2815	420	15	5		5	CCDC41	12	94703716	IGR	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	31661380	94703716	39148179	222	653											
STAB2	55576	genome.wustl.edu	37	chr12	104015858	104015858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgaaacctgtgctgaCgacaacttatttggacccag	10	11	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:104015858C>T	ENST00000388887.2	+	5	660	c.456C>T	c.(454-456)gaC>gaT	p.D152D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCTGACGACAACTTAT	0.478																																																	0								ENSG00000136011						256	221	233					12																	104015858		2203	4300	6503	STAB2	SO:0001819	synonymous_variant	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.456C>T	12.37:g.104015858C>T		Somatic	0	55	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	52	39.53		Silent	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D152	ENST00000388887.2	37	c.456	CCDS31888.1	12																																																																																			-	smart_EGF_laminin		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	C		-		104015858	1	no_errors	ENST00000388887	ensembl	human	known	74_37	silent	SNP	0.866	T	T	104015858	C	T	104015858	2	4	9	1	0	0	0	0	0	0	0	1	15245	535	19	1		1	STAB2	12	104015858	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	9312142	104015858	29836037	223	654											
NOS1	4842	genome.wustl.edu	37	chr12	117768335	117768335	+	Frame_Shift_Del	DEL	G	G	-													gggtcctggcctgggggcctGggggccaggccgttggcatg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:117768335delG	ENST00000338101.4	-	1	544	c.540delC	c.(538-540)cccfs	p.P180fs	NOS1_ENST00000317775.6_Frame_Shift_Del_p.P180fs|NOS1_ENST00000344089.3_Frame_Shift_Del_p.P180fs|NOS1_ENST00000549189.1_5'Flank			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				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)			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)		CTGGGGGCCTGGGGGCCAGGC	0.642																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						62	69	67					12																	117768335		1962	4145	6107	NOS1	SO:0001589	frameshift_variant	0				HGNC		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.540delC	12.37:g.117768335delG	ENSP00000337459:p.Pro180fs	Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18		Frame_Shift_Del	DEL							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R181fs	ENST00000338101.4	37	c.540	CCDS55890.1	12																																																																																			-	pirsf_NOS_euk		0.642	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	G				117768335	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	frame_shift_del	DEL	0.349	-	-	117768335	G	-	117768335	7	5	9	1	0	1	0	1	0	0	0	0	10543	1335	47	0	3876	0	NOS1	12	117768335	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09	13752477	117768335	16083560	224	655											
HNF1A	6927	genome.wustl.edu	37	chr12	121432065	121432065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaactggtttgccaaccGgcgcaaagaagaagccttcc	9	13	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:121432065G>T	ENST00000257555.6	+	4	1038	c.812G>T	c.(811-813)cGg>cTg	p.R271L	HNF1A_ENST00000400024.2_Missense_Mutation_p.R271L|HNF1A_ENST00000402929.1_Missense_Mutation_p.R271L|HNF1A_ENST00000543427.1_Missense_Mutation_p.R154L|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271L|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271L|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	271	Interaction with DNA.		R -> W (in MODY3). {ECO:0000269|PubMed:9754819}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 regulatory region DNA binding (GO:0044212)	p.K273fs*41(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTGCCAACCGGCGCAAAGAA	0.667									Hepatic Adenoma, Familial Clustering of																																								1	Deletion - Frameshift(1)	liver(1)	GRCh37	CM023589	HNF1A	M		ENSG00000135100						40	37	38					12																	121432065		2203	4300	6503	HNF1A	SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	-	HGNC	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.812G>T	12.37:g.121432065G>T	ENSP00000257555:p.Arg271Leu	Somatic	0	35	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP							pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R271L	ENST00000257555.6	37	c.812	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.186582	0.94885	.	.	ENSG00000135100	ENST00000257555;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000012	D	0.98012	0.9345	M	0.75264	2.295	0.80722	D	1	D;D;B;B	0.61697	0.979;0.99;0.144;0.225	P;D;B;B	0.63283	0.698;0.913;0.125;0.144	D	0.98781	1.0732	10	0.62326	D	0.03	-44.5159	16.9721	0.86303	0.0:0.0:1.0:0.0	.	271;271;271;271	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	L	271;271;271;271;154;271;271;271;271;271	ENSP00000257555:R271L;ENSP00000439721:R154L;ENSP00000443112:R271L;ENSP00000438804:R271L	ENSP00000257555:R271L	R	+	2	0	HNF1A	119916448	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.387000	0.97232	2.245000	0.73994	0.409000	0.27619	CGG	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.667	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	protein_coding	OTTHUMT00000320957.5	G	NM_000545	-		121432065	1	no_errors	ENST00000257555	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121432065	G	T	121432065	3	4	9	1	0	0	0	0	1	0	0	0	7253	1116	39	3	826	3	HNF1A	12	121432065	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3663730	121432065	12419830	225	656											
PITPNM2	57605	genome.wustl.edu	37	chr12	123475112	123475112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggcgatgctggatgccGtgtagctctcagccatgcct	13	12	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123475112G>A	ENST00000542749.1	-	15	2612	c.2549C>T	c.(2548-2550)aCg>aTg	p.T850M	PITPNM2_ENST00000320201.4_Missense_Mutation_p.T850M|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T571M|PITPNM2_ENST00000280562.5_Missense_Mutation_p.T898M			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	850	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCTGGATGCCGTGTAGCTCTC	0.657																																																	0								ENSG00000090975						72	57	62					12																	123475112		2202	4300	6502	PITPNM2	SO:0001583	missense	0			-	HGNC	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2549C>T	12.37:g.123475112G>A	ENSP00000437611:p.Thr850Met	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	Q9P271	Missense_Mutation	SNP							pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.T850M	ENST00000542749.1	37	c.2549	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.150890	0.94645	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47869	1.19;1.15;0.83;1.15	5.35	5.35	0.76521	DDHD (2);	0.124582	0.52532	D	0.000064	T	0.66257	0.2771	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.78314	0.738;0.991	T	0.68202	-0.5471	10	0.72032	D	0.01	-27.21	19.0766	0.93165	0.0:0.0:1.0:0.0	.	898;850	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	M	898;850;571;850	ENSP00000280562:T898M;ENSP00000322218:T850M;ENSP00000376223:T571M;ENSP00000437611:T850M	ENSP00000280562:T898M	T	-	2	0	PITPNM2	122041065	1.000000	0.71417	0.966000	0.40874	0.954000	0.61252	9.826000	0.99387	2.495000	0.84180	0.462000	0.41574	ACG	-	pfam_DDHD,pfscan_DDHD		0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	protein_coding	OTTHUMT00000401342.1	G	NM_020845	-		123475112	-1	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123475112	G	A	123475112	3	1	9	1	0	0	0	0	1	0	0	0	11953	1145	40	1	1540	1	PITPNM2	12	123475112	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2043047	123475112	10376783	226	657											
PITPNM2	57605	genome.wustl.edu	37	chr12	123489025	123489025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctgagatgctgtggcGggaaggactcgctggaaggc	16	10	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123489025G>A	ENST00000542749.1	-	6	1027	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R322C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R360C|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R322C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	322					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATGCTGTGGCGGGAAGGACTC	0.622																																																	0								ENSG00000090975						108	78	89					12																	123489025		2203	4300	6503	PITPNM2	SO:0001583	missense	0			-	HGNC	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.964C>T	12.37:g.123489025G>A	ENSP00000437611:p.Arg322Cys	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q9P271	Missense_Mutation	SNP							pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.R322C	ENST00000542749.1	37	c.964	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400110	0.42613	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.20598	2.06;2.06;2.06	4.57	3.65	0.41850	.	0.192546	0.46442	D	0.000289	T	0.17916	0.0430	L	0.35723	1.085	0.80722	D	1	B;B;B	0.15719	0.009;0.003;0.014	B;B;B	0.11329	0.006;0.004;0.003	T	0.05386	-1.0888	10	0.49607	T	0.09	-25.2541	13.4487	0.61158	0.0811:0.0:0.9189:0.0	.	322;322;322	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	322	ENSP00000280562:R322C;ENSP00000322218:R322C;ENSP00000437611:R322C	ENSP00000280562:R322C	R	-	1	0	PITPNM2	122054978	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.565000	0.67365	2.245000	0.73994	0.561000	0.74099	CGC	-	NULL		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	protein_coding	OTTHUMT00000401342.1	G	NM_020845	-		123489025	-1	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123489025	G	A	123489025	3	1	9	1	0	0	0	0	1	0	0	0	11953	1116	39	1	3161	1	PITPNM2	12	123489025	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	13913	123489025	10362870	227	658											
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123706321	123706322	+	Frame_Shift_Ins	INS	-	-	A													atttctctcactgcttagagINSaaaaaaaacccatttgactt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123706321_123706322insA	ENST00000606320.1	-	5	675_676	c.469_470insT	c.(469-471)tctfs	p.S157fs	MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000539639.1_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	157						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S5C(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTGCTTAGAGAAAAAAAACCC	0.371																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000051825			0,4264		0,0,2132						5.9	0.8			74	6,8248		0,6,4121	no	frameshift	MPHOSPH9	NM_022782.2		0,6,6253	A1A1,A1R,RR		0.0727,0.0,0.0479				6,12512				MPHOSPH9	SO:0001589	frameshift_variant	0				HGNC	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.470dupT	12.37:g.123706329_123706329dupA	ENSP00000475489:p.Ser157fs	Somatic	0	50	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Frame_Shift_Ins	INS							superfamily_Prefoldin	p.S5fs	ENST00000606320.1	37	c.14_13		12																																																																																			-	NULL		0.371	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	protein_coding	OTTHUMT00000471390.2	-				123706322	-1	no_errors	ENST00000392425	ensembl	human	known	74_37	frame_shift_ins	INS	0.995:0.977	A	A	123706322	-	A	123706321	7	5	9	1	0	1	1	0	0	0	0	0	9730	942	33	0	3161	0	MPHOSPH9	12	123706321	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	217296	123706321	10145574	228	659											
SETD8	387893	genome.wustl.edu	37	chr12	123889536	123889536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcatcgagatcaccgacGccaagaaacgggaggctctg	11	13	3	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123889536G>A	ENST00000402868.3	+	7	1189	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SETD8_ENST00000330479.4_Missense_Mutation_p.A255T			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	296					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GATCACCGACGCCAAGAAACG	0.547																																																	0								ENSG00000183955						62	57	59					12																	123889536		2203	4298	6501	SETD8	SO:0001583	missense	0			-	HGNC	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.763G>A	12.37:g.123889536G>A	ENSP00000384629:p.Ala255Thr	Somatic	0	35	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP							pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.A255T	ENST00000402868.3	37	c.763	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.327649	0.95733	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85088	-1.94;-1.94;-1.94	5.16	5.16	0.70880	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	M	0.88310	2.945	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66497	0.944;0.907	D	0.94406	0.7627	10	0.87932	D	0	-23.8967	19.0249	0.92929	0.0:0.0:1.0:0.0	.	296;255	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	T	255;255;246	ENSP00000384629:A255T;ENSP00000332995:A255T;ENSP00000413811:A246T	ENSP00000332995:A255T	A	+	1	0	SETD8	122455489	1.000000	0.71417	0.978000	0.43139	0.809000	0.45718	9.813000	0.99286	2.573000	0.86826	0.655000	0.94253	GCC	-	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom		0.547	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	protein_coding	OTTHUMT00000318263.1	G	NM_020382	-		123889536	1	no_errors	ENST00000330479	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123889536	G	A	123889536	3	1	9	1	0	0	0	0	1	0	0	0	14145	1087	38	1	789	1	SETD8	12	123889536	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	183215	123889536	9962359	229	660											
NOC4L	79050	genome.wustl.edu	37	chr12	132636680	132636680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagccgccagcgtcatcAaccaggccctgtccatgcct	8	18	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:132636680A>G	ENST00000330579.1	+	14	1410	c.1369A>G	c.(1369-1371)Aac>Gac	p.N457D	NOC4L_ENST00000538784.1_Missense_Mutation_p.N72D	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	457					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CAGCGTCATCAACCAGGCCCT	0.692																																																	0								ENSG00000184967						41	34	37					12																	132636680		2196	4289	6485	NOC4L	SO:0001583	missense	0			-	HGNC		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1369A>G	12.37:g.132636680A>G	ENSP00000328854:p.Asn457Asp	Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81	Q8N2S5|Q96I14	Missense_Mutation	SNP							pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.N457D	ENST00000330579.1	37	c.1369	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386069	0.61956	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.33654	1.4;1.4	4.59	4.59	0.56863	.	0.101253	0.64402	D	0.000004	T	0.37652	0.1011	M	0.64997	1.995	0.46849	D	0.999224	P	0.50156	0.932	P	0.45167	0.472	T	0.17379	-1.0371	10	0.19590	T	0.45	-33.321	12.2161	0.54406	1.0:0.0:0.0:0.0	.	457	Q9BVI4	NOC4L_HUMAN	D	457;72	ENSP00000328854:N457D;ENSP00000443336:N72D	ENSP00000328854:N457D	N	+	1	0	NOC4L	131202633	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.576000	0.60915	1.695000	0.51148	0.391000	0.25812	AAC	-	NULL		0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	protein_coding	OTTHUMT00000398999.1	A	NM_024078	-		132636680	1	no_errors	ENST00000330579	ensembl	human	known	74_37	missense	SNP	1.000	G	G	132636680	A	G	132636680	3	3	9	1	0	0	0	0	1	0	0	0	10517	130	5	5	1423	5	NOC4L	12	132636680	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	8747144	132636680	1215215	230	661											
SKA3	221150	genome.wustl.edu	37	chr13	21746492	21746492	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacctgaatttttcttgAcacgtggactatatccatac	5	10	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:21746492A>T	ENST00000314759.5	-	3	441	c.317T>A	c.(316-318)gTc>gAc	p.V106D	SKA3_ENST00000400018.3_Missense_Mutation_p.V106D	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	106					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTTTTCTTGACACGTGGACT	0.308																																																	0								ENSG00000165480						74	83	80					13																	21746492		2202	4294	6496	SKA3	SO:0001583	missense	0			-	HGNC	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.317T>A	13.37:g.21746492A>T	ENSP00000319417:p.Val106Asp	Somatic	0	102	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.53	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP							NULL	p.V106D	ENST00000314759.5	37	c.317	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412664	0.25465	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.21932	1.99;1.98	5.52	1.31	0.21738	.	0.967276	0.08619	N	0.918685	T	0.07098	0.0180	N	0.01705	-0.755	0.09310	N	0.999999	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.34551	-0.9824	10	0.38643	T	0.18	1.2954	1.5825	0.02637	0.2355:0.1526:0.4461:0.1659	.	106;106	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	D	106	ENSP00000319417:V106D;ENSP00000382896:V106D	ENSP00000319417:V106D	V	-	2	0	SKA3	20644492	0.002000	0.14202	0.730000	0.30809	0.928000	0.56348	-0.021000	0.12504	-0.070000	0.12908	-0.338000	0.08134	GTC	-	NULL		0.308	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	protein_coding	OTTHUMT00000272912.1	A	NM_145061	-		21746492	-1	no_errors	ENST00000314759	ensembl	human	known	74_37	missense	SNP	0.015	T	T	21746492	A	T	21746492	3	4	9	1	0	0	0	0	1	0	0	0	14362	275	10	5	996	5	SKA3	13	21746492	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09		21746492	93423386	231	662											
WASF3	10810	genome.wustl.edu	37	chr13	27250749	27250749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaaagccagaaacaggCgccaggagtggaatatgatg	13	6	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:27250749C>T	ENST00000335327.5	+	7	782	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	202					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.R202C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGAAACAGGCGCCAGGAGTG	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000132970						132	130	131					13																	27250749		2203	4300	6503	WASF3	SO:0001583	missense	0			-	HGNC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.604C>T	13.37:g.27250749C>T	ENSP00000335055:p.Arg202Cys	Somatic	0	42	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	O94974|Q86VQ2	Missense_Mutation	SNP							pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R202C	ENST00000335327.5	37	c.604	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954114	0.92726	.	.	ENSG00000132970	ENST00000335327	T	0.49432	0.78	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.70850	-0.4760	10	0.87932	D	0	-11.6242	19.9634	0.97258	0.0:1.0:0.0:0.0	.	202	Q9UPY6	WASF3_HUMAN	C	202	ENSP00000335055:R202C	ENSP00000335055:R202C	R	+	1	0	WASF3	26148749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.478000	0.66806	2.726000	0.93360	0.591000	0.81541	CGC	-	NULL		0.502	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	protein_coding	OTTHUMT00000044258.1	C		-		27250749	1	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27250749	C	T	27250749	3	4	9	1	0	0	0	0	1	0	0	0	17261	768	27	1	622	1	WASF3	13	27250749	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5504257	27250749	87919129	232	663											
POSTN	10631	genome.wustl.edu	37	chr13	38154703	38154703	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactaataggcttacctaaaGcgcttatcttgttttaactt	5	9	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:38154703G>T	ENST00000379747.4	-	11	1641	c.1524C>A	c.(1522-1524)cgC>cgA	p.R508R	POSTN_ENST00000379743.4_Silent_p.R508R|POSTN_ENST00000541481.1_Silent_p.R508R|POSTN_ENST00000379749.4_Silent_p.R508R|POSTN_ENST00000379742.4_Silent_p.R508R|POSTN_ENST00000541179.1_Silent_p.R508R	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4. {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)		CTTACCTAAAGCGCTTATCTT	0.438																																																	0								ENSG00000133110						269	259	262					13																	38154703		2203	4300	6503	POSTN	SO:0001819	synonymous_variant	0			-	HGNC	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.1524C>A	13.37:g.38154703G>T		Somatic	0	64	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	61	8.96	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP							pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R508	ENST00000379747.4	37	c.1524	CCDS9364.1	13																																																																																			-	pfam_FAS1_domain,superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	protein_coding	OTTHUMT00000044566.2	G	NM_006475	-		38154703	-1	no_errors	ENST00000379747	ensembl	human	known	74_37	silent	SNP	0.986	T	T	38154703	G	T	38154703	2	4	9	1	0	0	0	0	0	0	0	1	12261	958	34	3		3	POSTN	13	38154703	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	10903954	38154703	77015175	233	664											
WBP4	11193	genome.wustl.edu	37	chr13	41656910	41656910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaagctgatggtggcGgagaacccaaagtggtattt	13	7	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:41656910G>A	ENST00000379487.3	+	10	1391	c.991G>A	c.(991-993)Gga>Aga	p.G331R	WBP4_ENST00000542082.1_Missense_Mutation_p.G310R	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	331					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGATGGTGGCGGAGAACCCAA	0.398																																																	0								ENSG00000120688						72	73	72					13																	41656910		2203	4300	6503	WBP4	SO:0001583	missense	0			-	HGNC	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.991G>A	13.37:g.41656910G>A	ENSP00000368801:p.Gly331Arg	Somatic	0	54	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	30	43.40	B7Z4M2|Q32P29	Missense_Mutation	SNP							pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin	p.G331R	ENST00000379487.3	37	c.991	CCDS9375.1	13	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169219	0.38315	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	4.37	4.37	0.52481	.	0.378326	0.30989	N	0.008463	T	0.50377	0.1612	M	0.63428	1.95	0.09310	N	1	D;P	0.63880	0.993;0.918	P;B	0.50860	0.652;0.084	T	0.49031	-0.8981	9	0.46703	T	0.11	-11.4758	15.1164	0.72407	0.0:0.0:1.0:0.0	.	310;331	B7Z4M2;O75554	.;WBP4_HUMAN	R	331;310	.	ENSP00000368801:G331R	G	+	1	0	WBP4	40554910	1.000000	0.71417	0.665000	0.29768	0.955000	0.61496	3.303000	0.51858	1.980000	0.57719	0.555000	0.69702	GGA	-	NULL		0.398	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	protein_coding	OTTHUMT00000044655.2	G	NM_007187	-		41656910	1	no_errors	ENST00000379487	ensembl	human	known	74_37	missense	SNP	0.135	A	A	41656910	G	A	41656910	3	1	9	1	0	0	0	0	1	0	0	0	17268	1117	39	1	1029	1	WBP4	13	41656910	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3502207	41656910	73512968	234	665											
KBTBD6	89890	genome.wustl.edu	37	chr13	41704810	41704811	+	Frame_Shift_Ins	INS	-	-	A													ataaacacgagcagagaggcINSaaaaaaagttagaatcaaac							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:41704810_41704811insA	ENST00000379485.1	-	1	2071_2072	c.1837_1838insT	c.(1837-1839)tgcfs	p.C613fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.C547fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	613										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGAGAGGCAAAAAAAGTTA	0.416																																																	0								ENSG00000165572																																			KBTBD6	SO:0001589	frameshift_variant	0				HGNC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1838dupT	13.37:g.41704817_41704817dupA	ENSP00000368799:p.Cys613fs	Somatic	0	77	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS							pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.C613fs	ENST00000379485.1	37	c.1838_1837	CCDS9376.1	13																																																																																			-	NULL		0.416	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	protein_coding	OTTHUMT00000044657.1	-	NM_152903			41704811	-1	no_errors	ENST00000379485	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.865	A	A	41704811	-	A	41704810	7	5	9	1	0	1	1	0	0	0	0	0	7999	710	25	0	190	0	KBTBD6	13	41704810	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	47900	41704810	73465068	235	666											
KIAA1704	55425	genome.wustl.edu	37	chr13	45580382	45580383	+	Frame_Shift_Ins	INS	-	-	T													acgatgatgatgatgatgggINSttttttggaccagcccttcc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:45580382_45580383insT	ENST00000379151.4	+	3	370_371	c.267_268insT	c.(268-270)tttfs	p.F90fs	GPALPP1_ENST00000357537.3_5'UTR|GPALPP1_ENST00000361121.2_Frame_Shift_Ins_p.F90fs|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	90																	atgatgatgGGTTTTTTGGACC	0.327																																																	0								ENSG00000133114																																			GPALPP1	SO:0001589	frameshift_variant	0				HGNC	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.273dupT	13.37:g.45580388_45580388dupT	ENSP00000368447:p.Phe90fs	Somatic	0	140	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	151	11.70	A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Ins	INS							pfam_DUF3752	p.G91fs	ENST00000379151.4	37	c.267_268	CCDS9394.1	13																																																																																			-	NULL		0.327	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	protein_coding	OTTHUMT00000044749.2	-	NM_018559			45580383	1	no_errors	ENST00000361121	ensembl	human	known	74_37	frame_shift_ins	INS	0.677:0.993	T	T	45580383	-	T	45580382	7	5	9	1	0	1	1	0	0	0	0	0	8254	1248	44	0	277	0	KIAA1704	13	45580382	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	3875572	45580382	69589496	236	667											
ZC3H13	23091	genome.wustl.edu	37	chr13	46543874	46543874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgtcctataatgtcCtgtgcacgcattcttgagct	11	9	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:46543874C>A	ENST00000242848.4	-	14	3153	c.2805G>T	c.(2803-2805)caG>caT	p.Q935H	ZC3H13_ENST00000378921.2_5'Flank|ZC3H13_ENST00000282007.3_Missense_Mutation_p.Q935H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	935							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTATAATGTCCTGTGCACGCA	0.408																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0								ENSG00000123200						323	294	304					13																	46543874		2203	4300	6503	ZC3H13	SO:0001583	missense	0			-	HGNC	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2805G>T	13.37:g.46543874C>A	ENSP00000242848:p.Gln935His	Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.Q935H	ENST00000242848.4	37	c.2805		13	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084911	0.20390	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.34472	2.36;1.36	6.17	-2.11	0.07187	.	0.000000	0.64402	D	0.000011	T	0.46151	0.1378	L	0.60455	1.87	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.58172	0.687;0.834	T	0.50482	-0.8823	10	0.54805	T	0.06	.	14.1248	0.65213	0.0:0.5198:0.0:0.4802	.	935;935	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	935	ENSP00000242848:Q935H;ENSP00000282007:Q935H	ENSP00000242848:Q935H	Q	-	3	2	ZC3H13	45441875	0.131000	0.22433	0.744000	0.31058	0.909000	0.53808	-0.331000	0.07914	-0.269000	0.09298	-0.136000	0.14681	CAG	-	NULL		0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	protein_coding	OTTHUMT00000044789.1	C	NM_015070	-		46543874	-1	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	SNP	0.896	A	A	46543874	C	A	46543874	3	1	9	1	0	0	0	0	1	0	0	0	17572	680	24	3	1905	3	ZC3H13	13	46543874	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	963492	46543874	68626004	237	668											
ATP7B	540	genome.wustl.edu	37	chr13	52511712	52511712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccggggagtcattgaccCcatcccccaccatggcgact	11	16	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:52511712C>A	ENST00000242839.4	-	18	3959	c.3803G>T	c.(3802-3804)gGg>gTg	p.G1268V	ATP7B_ENST00000418097.2_Missense_Mutation_p.G1203V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G1061V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G479V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1190V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1157V|ATP7B_ENST00000400370.3_Missense_Mutation_p.G838V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1268					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTCATTGACCCCATCCCCCAC	0.597									Wilson disease																																								0			GRCh37	CD054308	ATP7B	D		ENSG00000123191						83	91	88					13																	52511712		2066	4193	6259	ATP7B	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3803G>T	13.37:g.52511712C>A	ENSP00000242839:p.Gly1268Val	Somatic	0	61	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP							pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.G1268V	ENST00000242839.4	37	c.3803	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365783	0.41902	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74;-4.74;-4.74;-4.74	4.73	4.73	0.59995	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.96460	3.825	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	0.98968	1.0800	10	0.87932	D	0	-25.2891	18.2449	0.89982	0.0:1.0:0.0:0.0	.	1190;1220;1203;479;838;1157;1061;1268	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	V	1268;1157;1061;479;1190;838;1203	ENSP00000242839:G1268V;ENSP00000383217:G1157V;ENSP00000342559:G1061V;ENSP00000390360:G479V;ENSP00000416738:G1190V;ENSP00000383221:G838V;ENSP00000393343:G1203V	ENSP00000242839:G1268V	G	-	2	0	ATP7B	51409713	1.000000	0.71417	0.455000	0.27031	0.223000	0.24884	7.562000	0.82300	2.606000	0.88127	0.591000	0.81541	GGG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase		0.597	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	protein_coding	OTTHUMT00000045981.1	C	NM_000053	-		52511712	-1	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52511712	C	A	52511712	3	1	9	1	0	0	0	0	1	0	0	0	1191	623	22	3	610	3	ATP7B	13	52511712	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5967838	52511712	62658166	238	669											
MYO16	23026	genome.wustl.edu	37	chr13	109779832	109779832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagagggaccccaacaccCggctgagtgcttcctatgag	11	13	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:109779832C>T	ENST00000357550.2	+	30	3960	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	MYO16_ENST00000356711.2_Missense_Mutation_p.R1307W|MYO16_ENST00000457511.2_Missense_Mutation_p.R819W	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)			CCCCAACACCCGGCTGAGTGC	0.657																																																	0								ENSG00000041515						30	33	32					13																	109779832		2203	4300	6503	MYO16	SO:0001583	missense	0			-	HGNC		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.3919C>T	13.37:g.109779832C>T	ENSP00000350160:p.Arg1307Trp	Somatic	0	114	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89		Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1307W	ENST00000357550.2	37	c.3919	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636499	0.67130	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.58210	0.35;0.35;0.35	5.5	3.74	0.42951	.	0.000000	0.36703	U	0.002444	T	0.67785	0.2930	M	0.69823	2.125	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66011	-0.6029	9	.	.	.	.	9.7949	0.40728	0.2829:0.5806:0.1365:0.0	.	819;1307	F8W883;Q9Y6X6	.;MYO16_HUMAN	W	1307;1307;819	ENSP00000349145:R1307W;ENSP00000350160:R1307W;ENSP00000401633:R819W	.	R	+	1	2	MYO16	108577833	0.070000	0.21116	0.989000	0.46669	0.857000	0.48899	0.467000	0.22035	0.656000	0.30886	-0.309000	0.09137	CGG	-	NULL		0.657	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	C	NM_015011	-		109779832	1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	SNP	0.983	T	T	109779832	C	T	109779832	3	4	9	1	0	0	0	0	1	0	0	0	10066	643	23	1	4037	1	MYO16	13	109779832	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	57268120	109779832	5390046	239	670											
ATP11A	23250	genome.wustl.edu	37	chr13	113464952	113464952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggttatgaagactggcttcGacataaagcagacaatgcca	11	8	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:113464952G>A	ENST00000487903.1	+	5	441	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	ATP11A_ENST00000283558.8_Missense_Mutation_p.R118Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.R118Q|ATP11A_ENST00000375645.3_Missense_Mutation_p.R118Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	118					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GACTGGCTTCGACATAAAGCA	0.488																																																	0								ENSG00000068650						127	117	121					13																	113464952		2203	4300	6503	ATP11A	SO:0001583	missense	0			-	HGNC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.353G>A	13.37:g.113464952G>A	ENSP00000420387:p.Arg118Gln	Somatic	0	42	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	Q5VXT2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R118Q	ENST00000487903.1	37	c.353	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.263119|5.263119	0.95399|0.95399	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	4.83|4.83	4.83|4.83	0.62350|0.62350	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94742|0.94742	0.8303|0.8303	H|H	0.95645|0.95645	3.7|3.7	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.96322|0.96322	0.9237|0.9237	5|10	.|0.87932	.|D	.|0	.|.	17.0821|17.0821	0.86601|0.86601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;118	.|E9PEJ6;P98196	.|.;AT11A_HUMAN	N|Q	93|118	.|ENSP00000420387:R118Q;ENSP00000364781:R118Q;ENSP00000364796:R118Q;ENSP00000283558:R118Q	.|ENSP00000283558:R118Q	D|R	+|+	1|2	0|0	ATP11A|ATP11A	112512953|112512953	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.948000|0.948000	0.59901|0.59901	8.312000|8.312000	0.89976|0.89976	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	GAC|CGA	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase		0.488	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	protein_coding	OTTHUMT00000045834.3	G	NM_015205	-		113464952	1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113464952	G	A	113464952	3	1	9	1	0	0	0	0	1	0	0	0	1119	1058	37	1	371	1	ATP11A	13	113464952	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3685120	113464952	1704926	240	671											
SLC7A7	9056	genome.wustl.edu	37	chr14	23242839	23242839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttagatttgggatcccGttgcttgggcatctctcctc	10	10	1	1	rs138506427		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:23242839G>A	ENST00000397532.3	-	10	2041	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	SLC7A7_ENST00000285850.7_Missense_Mutation_p.R506W|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R506W|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R506W|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R240W|SLC7A7_ENST00000555702.1_Missense_Mutation_p.R506W|SLC7A7_ENST00000554061.1_5'UTR			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)		TTGGGATCCCGTTGCTTGGGC	0.478													G|||	1	0.000199681	0	0	5008	,	,		19370	0		0	False		,,,				2504	0.001																0								ENSG00000155465	G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	155	128	137		1516,1516,1516	3.6	0.4	14	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC7A7	NM_001126105.2,NM_001126106.2,NM_003982.3	101,101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	506/512,506/512,506/512	23242839	2,13004	2203	4300	6503	SLC7A7	SO:0001583	missense	0			-	HGNC	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.1516C>T	14.37:g.23242839G>A	ENSP00000380666:p.Arg506Trp	Somatic	0	34	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.R506W	ENST00000397532.3	37	c.1516	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746596	0.30955	2.27E-4	1.16E-4	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.91464	-2.74;-2.74;-2.74;-2.74;-2.74;-2.85	5.52	3.63	0.41609	.	4.168150	0.00424	N	0.000065	D	0.82898	0.5137	N	0.08118	0	0.26626	N	0.972558	P	0.44776	0.843	B	0.38712	0.28	T	0.75414	-0.3326	10	0.72032	D	0.01	.	8.8852	0.35398	0.0:0.1637:0.6663:0.17	.	506	Q9UM01	YLAT1_HUMAN	W	506;506;506;479;506;506;240	ENSP00000285850:R506W;ENSP00000451881:R506W;ENSP00000380666:R506W;ENSP00000380663:R506W;ENSP00000380662:R506W;ENSP00000452083:R240W	ENSP00000285850:R506W	R	-	1	2	SLC7A7	22312679	0.549000	0.26481	0.388000	0.26195	0.298000	0.27526	0.667000	0.25112	0.649000	0.30751	0.563000	0.77884	CGG	-	NULL		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	protein_coding	OTTHUMT00000071636.3	G		rs138506427		23242839	-1	no_errors	ENST00000285850	ensembl	human	known	74_37	missense	SNP	0.743	A	A	23242839	G	A	23242839	3	1	9	1	0	0	0	0	1	0	0	0	14711	1144	40	1	23	1	SLC7A7	14	23242839	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		23242839	84106701	241	672											
IPO4	79711	genome.wustl.edu	37	chr14	24655084	24655084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctctgcctgatgtggtcGccagctccgtcagacagcac	10	15	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:24655084G>A	ENST00000354464.6	-	12	1328	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	384					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGATGTGGTCGCCAGCTCCGT	0.582																																																	0								ENSG00000196497						50	53	52					14																	24655084		2170	4266	6436	IPO4	SO:0001819	synonymous_variant	0			-	HGNC	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1152C>T	14.37:g.24655084G>A		Somatic	0	13	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	13	51.85	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP							pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.G384	ENST00000354464.6	37	c.1152	CCDS9616.1	14																																																																																			-	superfamily_ARM-type_fold		0.582	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	protein_coding	OTTHUMT00000071931.4	G	NM_024658	-		24655084	-1	no_errors	ENST00000354464	ensembl	human	known	74_37	silent	SNP	0.001	A	A	24655084	G	A	24655084	2	1	9	1	0	0	0	0	0	0	0	1	7797	1074	38	1		1	IPO4	14	24655084	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1412245	24655084	82694456	242	673											
C14orf101	54916	genome.wustl.edu	37	chr14	57046751	57046751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccgtggccgcagtgtTcaccttcaccctgccccctt	9	20	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:57046751T>A	ENST00000261556.6	+	1	241	c.119T>A	c.(118-120)tTc>tAc	p.F40Y	TMEM260_ENST00000538838.1_Missense_Mutation_p.F40Y|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	40						integral component of membrane (GO:0016021)											GCCGCAGTGTTCACCTTCACC	0.731																																																	0								ENSG00000070269						6	5	5					14																	57046751		2071	4086	6157	TMEM260	SO:0001583	missense	0			-	HGNC	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.119T>A	14.37:g.57046751T>A	ENSP00000261556:p.Phe40Tyr	Somatic	0	111	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP							pfam_DUF2723	p.F40Y	ENST00000261556.6	37	c.119	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	T	9.642	1.139239	0.21205	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.13089	3.16;2.62	5.14	5.14	0.70334	.	0.142503	0.48286	D	0.000192	T	0.05502	0.0145	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19976	-1.0289	10	0.02654	T	1	-10.77	8.2762	0.31874	0.2785:0.0:0.0:0.7215	.	40	Q9NX78	CN101_HUMAN	Y	40	ENSP00000261556:F40Y;ENSP00000441934:F40Y	ENSP00000261556:F40Y	F	+	2	0	C14orf101	56116504	1.000000	0.71417	0.938000	0.37757	0.260000	0.26232	2.294000	0.43567	1.921000	0.55644	0.460000	0.39030	TTC	-	NULL		0.731	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM260	protein_coding	OTTHUMT00000276924.1	T	NM_017799	-		57046751	1	no_errors	ENST00000261556	ensembl	human	known	74_37	missense	SNP	0.919	A	A	57046751	T	A	57046751	3	1	9	1	0	0	0	0	1	0	0	0	1736	1783	62	5	121	5	C14orf101	14	57046751	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	32391667	57046751	50302789	243	674											
GPR135	64582	genome.wustl.edu	37	chr14	59930509	59930509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctgtttggtcactgccGtcaccggctctggtggtccc	13	13	3	0	rs539098784		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:59930509G>A	ENST00000395116.1	-	1	1551	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	479						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGTCACTGCCGTCACCGGCTC	0.552																																																	0								ENSG00000181619						46	52	50					14																	59930509		2203	4300	6503	GPR135	SO:0001583	missense	0			-	HGNC	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1436C>T	14.37:g.59930509G>A	ENSP00000378548:p.Thr479Met	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	20	50.00	Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T479M	ENST00000395116.1	37	c.1436	CCDS9738.1	14	.	.	.	.	.	.	.	.	.	.	g	4.093	0.015335	0.07959	.	.	ENSG00000181619	ENST00000395116	T	0.62498	0.02	4.68	3.78	0.43462	.	0.894418	0.09471	N	0.797659	T	0.39963	0.1098	N	0.14661	0.345	0.51012	D	0.999903	B	0.33073	0.396	B	0.19391	0.025	T	0.15435	-1.0437	10	0.33940	T	0.23	-0.2345	7.5723	0.27915	0.0956:0.1689:0.7355:0.0	.	479	Q8IZ08	GP135_HUMAN	M	479	ENSP00000378548:T479M	ENSP00000378548:T479M	T	-	2	0	GPR135	59000262	0.576000	0.26700	0.014000	0.15608	0.006000	0.05464	3.883000	0.56168	1.184000	0.42957	0.651000	0.88453	ACG	-	NULL		0.552	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR135	protein_coding	OTTHUMT00000276941.1	G	NM_022571	-		59930509	-1	no_errors	ENST00000395116	ensembl	human	known	74_37	missense	SNP	0.122	A	A	59930509	G	A	59930509	3	1	9	1	0	0	0	0	1	0	0	0	6646	1145	40	1	52	1	GPR135	14	59930509	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2883758	59930509	47419031	244	675											
ZFP36L1	677	genome.wustl.edu	37	chr14	69256388	69256388	+	Frame_Shift_Del	DEL	G	G	-													gagagagaatcctgagggctGgggggagagtcaaacatgtg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:69256388delG	ENST00000439696.2	-	2	1180	c.879delC	c.(877-879)cccfs	p.P293fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.P293fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	293					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGAGGGCTGGGGGGAGAGT	0.647											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000185650						59	69	66					14																	69256388		2203	4300	6503	ZFP36L1	SO:0001589	frameshift_variant	0				HGNC	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.879delC	14.37:g.69256388delG	ENSP00000388402:p.Pro293fs	Somatic	0	45	0	1113	0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q13851	Frame_Shift_Del	DEL							pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.S294fs	ENST00000439696.2	37	c.879	CCDS9791.1	14																																																																																			-	NULL		0.647	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	protein_coding	OTTHUMT00000413227.1	G				69256388	-1	no_errors	ENST00000336440	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	69256388	G	-	69256388	7	5	9	1	0	1	0	1	0	0	0	0	17653	1335	47	0	141	0	ZFP36L1	14	69256388	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09	9325879	69256388	38093152	245	676											
MAP3K9	4293	genome.wustl.edu	37	chr14	71199670	71199670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatggggggctggtgctccGacgaggacggctggacctct	19	10	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:71199670G>A	ENST00000554752.2	-	11	2415	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R539W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R783W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R820W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R534W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	806					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGGTGCTCCGACGAGGACGG	0.622																																					GBM(114;411 1587 13539 28235 50070)												0								ENSG00000006432						52	51	51					14																	71199670		2203	4300	6503	MAP3K9	SO:0001583	missense	0			-	HGNC	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2416C>T	14.37:g.71199670G>A	ENSP00000451612:p.Arg806Trp	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R820W	ENST00000554752.2	37	c.2458		14	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768367	0.69878	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84298	-1.65;-1.83;-1.58;-1.71	4.77	4.77	0.60923	.	0.055536	0.64402	D	0.000001	D	0.90055	0.6894	M	0.62723	1.935	0.50467	D	0.999874	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;D;D	0.72338	0.977;0.72;0.96;0.974	D	0.90423	0.4418	10	0.66056	D	0.02	.	12.3523	0.55155	0.0:0.0:0.7269:0.2731	.	534;806;820;539	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	806;820;539;783;534;522	ENSP00000451612:R806W;ENSP00000451038:R539W;ENSP00000370649:R783W;ENSP00000451921:R534W	ENSP00000005198:R820W	R	-	1	2	MAP3K9	70269423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.997000	0.63921	2.478000	0.83669	0.561000	0.74099	CGG	-	pirsf_MAPKKK9/10/11		0.622	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	protein_coding	OTTHUMT00000412550.2	G		-		71199670	-1	no_errors	ENST00000555993	ensembl	human	known	74_37	missense	SNP	0.996	A	A	71199670	G	A	71199670	3	1	9	1	0	0	0	0	1	0	0	0	9259	1057	37	1	906	1	MAP3K9	14	71199670	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1943282	71199670	36149870	246	677											
RIN3	79890	genome.wustl.edu	37	chr14	93107613	93107613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcacactgcggctaccCcaggccatccttgaggccag	9	18	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:93107613C>T	ENST00000216487.7	+	5	630	c.471C>T	c.(469-471)ccC>ccT	p.P157P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	157	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGCGGCTACCCCAGGCCATCC	0.607																																																	0								ENSG00000100599						124	98	107					14																	93107613		2203	4300	6503	RIN3	SO:0001819	synonymous_variant	0			-	HGNC	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.471C>T	14.37:g.93107613C>T		Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP							NULL	p.P133L	ENST00000216487.7	37	c.398	CCDS32144.1	14																																																																																			-	NULL		0.607	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	protein_coding	OTTHUMT00000412269.1	C		-		93107613	1	no_errors	ENST00000555589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93107613	C	T	93107613	2	4	9	1	0	0	0	0	0	0	0	1	13381	610	22	2		2	RIN3	14	93107613	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	21907943	93107613	14241927	247	678											
PPP1R13B	23368	genome.wustl.edu	37	chr14	104205300	104205300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccagggggttaaaccGgactctcagcccgtgccccg	13	15	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:104205300G>A	ENST00000202556.9	-	13	2935	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.R304W	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	885					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGGTTAAACCGGACTCTCAGC	0.582																																																	0								ENSG00000088808						106	114	111					14																	104205300		1997	4178	6175	PPP1R13B	SO:0001583	missense	0			-	HGNC	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2653C>T	14.37:g.104205300G>A	ENSP00000202556:p.Arg885Trp	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	B2RMX5|O94870	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.R885W	ENST00000202556.9	37	c.2653	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654551	0.88056	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.56611	0.63;0.45	5.41	4.46	0.54185	Src homology-3 domain (1);	0.098869	0.64402	D	0.000001	T	0.55321	0.1913	L	0.54323	1.7	0.51233	D	0.999917	D	0.65815	0.995	P	0.50136	0.632	T	0.60342	-0.7282	10	0.87932	D	0	.	11.2197	0.48846	0.0:0.0:0.4854:0.5146	.	885	Q96KQ4	ASPP1_HUMAN	W	885;304	ENSP00000202556:R885W;ENSP00000395213:R304W	ENSP00000202556:R885W	R	-	1	2	PPP1R13B	103275053	1.000000	0.71417	0.984000	0.44739	0.870000	0.49936	5.435000	0.66532	1.437000	0.47472	0.561000	0.74099	CGG	-	superfamily_SH3_domain		0.582	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	protein_coding	OTTHUMT00000414591.1	G	NM_015316	-		104205300	-1	no_errors	ENST00000202556	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104205300	G	A	104205300	3	1	9	1	0	0	0	0	1	0	0	0	12362	1115	39	1	639	1	PPP1R13B	14	104205300	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	11097687	104205300	3144240	248	679											
AHNAK2	113146	genome.wustl.edu	37	chr14	105415468	105415468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgacatcggggactctcAtttccaccttggggtctttt	9	13	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:105415468A>G	ENST00000333244.5	-	7	6439	c.6320T>C	c.(6319-6321)aTg>aCg	p.M2107T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2107			M -> V (in dbSNP:rs11846918).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGACTCTCATTTCCACCTT	0.597																																																	0								ENSG00000185567						138	94	112					14																	105415468		1878	2861	4739	AHNAK2	SO:0001583	missense	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6320T>C	14.37:g.105415468A>G	ENSP00000353114:p.Met2107Thr	Somatic	0	70	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	68	17.07	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M2107T	ENST00000333244.5	37	c.6320	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	N	8.356	0.832114	0.16820	.	.	ENSG00000185567	ENST00000333244	T	0.01178	5.22	3.75	-1.71	0.08133	.	.	.	.	.	T	0.00845	0.0028	N	0.25485	0.75	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.48387	-0.9040	9	0.40728	T	0.16	.	0.8318	0.01132	0.4714:0.1651:0.2028:0.1607	.	2107	Q8IVF2	AHNK2_HUMAN	T	2107	ENSP00000353114:M2107T	ENSP00000353114:M2107T	M	-	2	0	AHNAK2	104486513	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	1.069000	0.30641	-0.167000	0.10871	0.254000	0.18369	ATG	-	NULL		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	A	NM_138420	-		105415468	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	SNP	0.001	G	G	105415468	A	G	105415468	3	3	9	1	0	0	0	0	1	0	0	0	415	217	8	5	11071	5	AHNAK2	14	105415468	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	1210168	105415468	1934072	249	680											
UBE3A	7337	genome.wustl.edu	37	chr15	25601107	25601108	+	Frame_Shift_Ins	INS	-	-	A													tcatacatcattgggttaccINSaaaaagatctgtctgtgata							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:25601107_25601108insA	ENST00000397954.2	-	7	2063_2064	c.2064_2065insT	c.(2062-2067)tttggtfs	p.G689fs	UBE3A_ENST00000428984.2_Frame_Shift_Ins_p.G666fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Frame_Shift_Ins_p.G666fs|UBE3A_ENST00000232165.3_Frame_Shift_Ins_p.G686fs|UBE3A_ENST00000566215.1_Frame_Shift_Ins_p.G666fs			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	689					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATTGGGTTACCAAAAAGATCTG	0.322																																																	0								ENSG00000114062																																			UBE3A	SO:0001589	frameshift_variant	0				HGNC	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2065dupT	15.37:g.25601112_25601112dupA	ENSP00000381045:p.Gly689fs	Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	46	36.11	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Frame_Shift_Ins	INS							pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.G688fs	ENST00000397954.2	37	c.2065_2064	CCDS45192.1	15																																																																																			-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT		0.322	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	protein_coding	OTTHUMT00000434203.1	-	NM_000462			25601108	-1	no_errors	ENST00000397954	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	25601108	-	A	25601107	7	5	9	1	0	1	1	0	0	0	0	0	16886	594	21	0	582	0	UBE3A	15	25601107	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09		25601107	76930285	250	681											
CHRFAM7A	89832	genome.wustl.edu	37	chr15	30664359	30664361	+	In_Frame_Del	DEL	TCT	TCT	-													ggggcgcttacccagggaaaTcttctccccggaatctgcag					rs199908464	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:30664359_30664361delTCT	ENST00000299847.2	-	7	965_967	c.512_514delAGA	c.(511-516)aagatt>att	p.K171del	CHRFAM7A_ENST00000397827.3_In_Frame_Del_p.K80del|CHRFAM7A_ENST00000401522.3_In_Frame_Del_p.K80del|CHRFAM7A_ENST00000567722.1_5'Flank	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	171						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCCAGGGAAATCTTCTCCCCGGA	0.611																																																	0								ENSG00000166664																																			CHRFAM7A	SO:0001651	inframe_deletion	0				HGNC	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.512_514delAGA	15.37:g.30664362_30664364delTCT	ENSP00000299847:p.Lys171del	Somatic	0	20	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	A8KAB9	In_Frame_Del	DEL							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.K171in_frame_del	ENST00000299847.2	37	c.514_512	CCDS32184.1	15																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.611	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	protein_coding	OTTHUMT00000430700.1	TCT	NM_148911			30664361	-1	no_errors	ENST00000299847	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	30664361	TCT	-	30664359	7	5	9	1	0	1	0	1	0	0	0	0	3377	1435	50	0	740	0	CHRFAM7A	15	30664359	In_Frame_Del	DEL	TCT	TCGA-3B-A9HT-01A-11D-A38Z-09	5063252	30664359	71867033	251	682											
DNAJC17	55192	genome.wustl.edu	37	chr15	41060224	41060224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgcatgcgcatcatgaCgaggctctcgtagtccctct	11	14	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:41060224C>T	ENST00000220496.4	-	11	859	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	DNAJC17_ENST00000558727.1_5'UTR|C15orf62_ENST00000344320.6_5'Flank	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCATCATGACGAGGCTCTCG	0.667																																																	0								ENSG00000104129						80	70	74					15																	41060224		2203	4300	6503	DNAJC17	SO:0001583	missense	0			-	HGNC	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.829G>A	15.37:g.41060224C>T	ENSP00000220496:p.Val277Ile	Somatic	0	75	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	69	16.87		Missense_Mutation	SNP							pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V277I	ENST00000220496.4	37	c.829	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358415	0.61403	.	.	ENSG00000104129	ENST00000220496	T	0.21191	2.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.78344	2.41	0.80722	D	1	D	0.55605	0.972	B	0.40477	0.33	T	0.13737	-1.0498	10	0.44086	T	0.13	.	18.055	0.89362	0.0:1.0:0.0:0.0	.	277	Q9NVM6	DJC17_HUMAN	I	277	ENSP00000220496:V277I	ENSP00000220496:V277I	V	-	1	0	DNAJC17	38847516	1.000000	0.71417	0.993000	0.49108	0.401000	0.30781	6.446000	0.73460	2.873000	0.98535	0.561000	0.74099	GTC	-	NULL		0.667	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	protein_coding	OTTHUMT00000252356.2	C	NM_018163	-		41060224	-1	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41060224	C	T	41060224	3	4	9	1	0	0	0	0	1	0	0	0	4638	536	19	1	89	1	DNAJC17	15	41060224	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	10395865	41060224	61471168	252	683											
RPAP1	26015	genome.wustl.edu	37	chr15	41809883	41809883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtgcaggaggtgctgccGgagaccctgcagaaaggaaa	15	8	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:41809883G>A	ENST00000304330.4	-	25	4155	c.4039C>T	c.(4039-4041)Cgg>Tgg	p.R1347W	RPAP1_ENST00000561603.1_Silent_p.S1094S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1347						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGTGCTGCCGGAGACCCTGC	0.522																																																	0								ENSG00000103932						120	125	123					15																	41809883		2203	4300	6503	RPAP1	SO:0001583	missense	0			-	HGNC	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.4039C>T	15.37:g.41809883G>A	ENSP00000306123:p.Arg1347Trp	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP							pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.R1347W	ENST00000304330.4	37	c.4039	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197452	0.79015	.	.	ENSG00000103932	ENST00000304330	T	0.12672	2.66	5.64	3.6	0.41247	.	0.183793	0.42682	D	0.000665	T	0.25044	0.0608	L	0.46157	1.445	0.34910	D	0.747361	D	0.76494	0.999	P	0.58970	0.849	T	0.36986	-0.9725	10	0.87932	D	0	-13.697	12.9695	0.58505	0.0:0.0:0.6219:0.3781	.	1347	Q9BWH6	RPAP1_HUMAN	W	1347	ENSP00000306123:R1347W	ENSP00000306123:R1347W	R	-	1	2	RPAP1	39597175	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.564000	0.45931	1.364000	0.46038	0.655000	0.94253	CGG	-	NULL		0.522	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	protein_coding	OTTHUMT00000252694.2	G	NM_015540	-		41809883	-1	no_errors	ENST00000304330	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41809883	G	A	41809883	3	1	9	1	0	0	0	0	1	0	0	0	13549	1115	39	1	146	1	RPAP1	15	41809883	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	749659	41809883	60721509	253	684											
TP53BP1	7158	genome.wustl.edu	37	chr15	43708440	43708440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctaagctgatatctgctGcctttgtaagaggtgttact	9	8	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:43708440G>T	ENST00000263801.3	-	22	5093	c.4841C>A	c.(4840-4842)gCa>gAa	p.A1614E	TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1619E|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1569E|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1619E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1614					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATATCTGCTGCCTTTGTAAG	0.483								Other conserved DNA damage response genes																																									0								ENSG00000067369						147	126	133					15																	43708440		2201	4298	6499	TP53BP1	SO:0001583	missense	0			-	HGNC	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4841C>A	15.37:g.43708440G>T	ENSP00000263801:p.Ala1614Glu	Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP							pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A1619E	ENST00000263801.3	37	c.4856	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042921	0.93685	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.05717	3.4;3.4;3.5;3.41	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.997;0.999;0.999	T	0.00043	-1.2223	10	0.72032	D	0.01	-14.6994	19.918	0.97070	0.0:0.0:1.0:0.0	.	1619;1614;1619;1619	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	E	1614;1619;1569;1619	ENSP00000263801:A1614E;ENSP00000371475:A1619E;ENSP00000371470:A1569E;ENSP00000393497:A1619E	ENSP00000263801:A1614E	A	-	2	0	TP53BP1	41495732	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.358000	0.97109	2.785000	0.95823	0.591000	0.81541	GCA	-	NULL		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	protein_coding	OTTHUMT00000132897.3	G		-		43708440	-1	no_errors	ENST00000382044	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43708440	G	T	43708440	3	4	9	1	0	0	0	0	1	0	0	0	16390	1319	46	3	1105	3	TP53BP1	15	43708440	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1898557	43708440	58822952	254	685											
CEP152	22995	genome.wustl.edu	37	chr15	49030471	49030471	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctagattaacaaatgggctaTcaaagccactatcttgttgg	8	8	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:49030471T>A	ENST00000380950.2	-	27	5295	c.5108A>T	c.(5107-5109)gAt>gTt	p.D1703V	CEP152_ENST00000399334.3_Missense_Mutation_p.D1647V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1703					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATGGGCTATCAAAGCCACT	0.328																																																	0								ENSG00000103995						62	57	59					15																	49030471		1824	4070	5894	CEP152	SO:0001583	missense	0			-	HGNC	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5108A>T	15.37:g.49030471T>A	ENSP00000370337:p.Asp1703Val	Somatic	0	66	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	58	28.40	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP							NULL	p.D1703V	ENST00000380950.2	37	c.5108	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	T	18.95	3.730944	0.69074	.	.	ENSG00000103995	ENST00000399334	T	0.70986	-0.53	4.61	3.46	0.39613	.	0.148951	0.30519	N	0.009449	T	0.69824	0.3154	L	0.34521	1.04	0.80722	D	1	D	0.53312	0.959	P	0.54664	0.758	T	0.71636	-0.4533	10	0.87932	D	0	-17.0535	11.511	0.50494	0.0:0.0:0.15:0.85	.	1647	O94986	CE152_HUMAN	V	1647	ENSP00000382271:D1647V	ENSP00000382271:D1647V	D	-	2	0	CEP152	46817763	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.298000	0.51818	0.771000	0.33359	0.460000	0.39030	GAT	-	NULL		0.328	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	protein_coding	OTTHUMT00000417365.1	T	NM_014985	-		49030471	-1	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49030471	T	A	49030471	3	1	9	1	0	0	0	0	1	0	0	0	3250	1435	50	5	28	5	CEP152	15	49030471	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	5322031	49030471	53500921	255	686											
LACTB	114294	genome.wustl.edu	37	chr15	63419132	63419133	+	Frame_Shift_Del	DEL	AA	AA	-													tgcgaattgctagcatcagcAaaagtctcaccatggttgct							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:63419132_63419133delAA	ENST00000261893.4	+	3	571_572	c.499_500delAA	c.(499-501)aaafs	p.K167fs	LACTB_ENST00000413507.2_Frame_Shift_Del_p.K167fs|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	167						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TAGCATCAGCAAAAGTCTCACC	0.416																																					Melanoma(85;443 1381 6215 27308 35583)												0								ENSG00000103642																																			LACTB	SO:0001589	frameshift_variant	0				HGNC	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.499_500delAA	15.37:g.63419134_63419135delAA	ENSP00000261893:p.Lys167fs	Somatic	0	88	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	56	26.32	P83096	Frame_Shift_Del	DEL							pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.L169fs	ENST00000261893.4	37	c.499_500	CCDS10182.1	15																																																																																			-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like		0.416	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	protein_coding	OTTHUMT00000256224.1	AA	NM_032857			63419133	1	no_errors	ENST00000261893	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	63419133	AA	-	63419132	7	5	9	1	0	1	0	1	0	0	0	0	8599	131	5	0	509	0	LACTB	15	63419132	Frame_Shift_Del	DEL	AA	TCGA-3B-A9HT-01A-11D-A38Z-09	14388661	63419132	39112260	256	687											
GLCE	26035	genome.wustl.edu	37	chr15	69561452	69561452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatcgctcctaacctggctCgctgggactatcataccacc	8	16	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:69561452C>T	ENST00000261858.2	+	5	1951	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C	GLCE_ENST00000559420.2_Missense_Mutation_p.R511C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	575					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TAACCTGGCTCGCTGGGACTA	0.483																																																	0								ENSG00000138604						202	192	196					15																	69561452		2200	4298	6498	GLCE	SO:0001583	missense	0			-	HGNC	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1723C>T	15.37:g.69561452C>T	ENSP00000261858:p.Arg575Cys	Somatic	0	34	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q6GUQ2	Missense_Mutation	SNP							pfam_C5-epim	p.R575C	ENST00000261858.2	37	c.1723	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802547	0.70682	.	.	ENSG00000138604	ENST00000261858	T	0.49432	0.78	5.0	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75059	-0.3451	10	0.87932	D	0	-33.3551	12.1532	0.54062	0.0:0.9155:0.0:0.0845	.	575	O94923	GLCE_HUMAN	C	575	ENSP00000261858:R575C	ENSP00000261858:R575C	R	+	1	0	GLCE	67348506	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.684000	0.84104	1.232000	0.43678	0.563000	0.77884	CGC	-	pfam_C5-epim		0.483	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	protein_coding		C	NM_015554	-		69561452	1	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69561452	C	T	69561452	3	4	9	1	0	0	0	0	1	0	0	0	6434	884	31	1	1733	1	GLCE	15	69561452	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6142320	69561452	32969940	257	688											
EDC3	80153	genome.wustl.edu	37	chr15	74932873	74932873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtcatctccagtctcCgctcaagggtcagcccatgc	8	17	5	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:74932873C>T	ENST00000315127.4	-	5	1089	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	EDC3_ENST00000426797.3_Missense_Mutation_p.R303Q|EDC3_ENST00000568176.1_Missense_Mutation_p.R303Q	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	303	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				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)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCAGTCTCCGCTCAAGGGT	0.512																																																	0								ENSG00000179151						113	91	98					15																	74932873		2197	4296	6493	EDC3	SO:0001583	missense	0			-	HGNC	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.908G>A	15.37:g.74932873C>T	ENSP00000320503:p.Arg303Gln	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP							pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.R303Q	ENST00000315127.4	37	c.908	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920590	0.73213	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.39787	1.06;1.06	5.82	2.87	0.33458	YjeF-related protein, N-terminal (4);	0.056485	0.64402	D	0.000001	T	0.29588	0.0738	L	0.42245	1.32	0.80722	D	1	P	0.44478	0.836	B	0.37198	0.243	T	0.03761	-1.1006	10	0.54805	T	0.06	-11.2014	6.9921	0.24761	0.1317:0.6732:0.1267:0.0684	.	303	Q96F86	EDC3_HUMAN	Q	303	ENSP00000320503:R303Q;ENSP00000401343:R303Q	ENSP00000320503:R303Q	R	-	2	0	EDC3	72719926	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.180000	0.77674	0.349000	0.23975	0.655000	0.94253	CGG	-	pfam_YjeF_N_dom,superfamily_YjeF_N_dom		0.512	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	protein_coding	OTTHUMT00000286399.1	C	NM_025083	-		74932873	-1	no_errors	ENST00000315127	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74932873	C	T	74932873	3	4	9	1	0	0	0	0	1	0	0	0	4909	652	23	1	630	1	EDC3	15	74932873	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5371421	74932873	27598519	258	689											
SCAMP2	10066	genome.wustl.edu	37	chr15	75142989	75142989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggccaggcaggcaagcagGttcagaaacagagtcactga	13	10	2	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:75142989G>T	ENST00000268099.9	-	6	607	c.498C>A	c.(496-498)aaC>aaA	p.N166K		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	166					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGCAAGCAGGTTCAGAAACA	0.572																																																	0								ENSG00000140497						105	96	99					15																	75142989		2197	4295	6492	SCAMP2	SO:0001583	missense	0			-	HGNC	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.498C>A	15.37:g.75142989G>T	ENSP00000268099:p.Asn166Lys	Somatic	0	34	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	B2RDF0|Q9BQE8	Missense_Mutation	SNP							pfam_SCAMP	p.N166K	ENST00000268099.9	37	c.498	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650439	0.67472	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.50277	0.75	4.48	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74850	-0.3524	10	0.87932	D	0	.	7.2696	0.26250	0.24:0.0:0.76:0.0	.	166;135	O15127;B3KU14	SCAM2_HUMAN;.	K	166;135	ENSP00000268099:N166K	ENSP00000268099:N166K	N	-	3	2	SCAMP2	72930042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.599000	0.54045	2.210000	0.71456	0.491000	0.48974	AAC	-	pfam_SCAMP		0.572	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	protein_coding	OTTHUMT00000286403.3	G	NM_005697	-		75142989	-1	no_errors	ENST00000268099	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75142989	G	T	75142989	3	4	9	1	0	0	0	0	1	0	0	0	13879	1252	44	3	507	3	SCAMP2	15	75142989	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	210116	75142989	27388403	259	690											
C15orf27	123591	genome.wustl.edu	37	chr15	76463371	76463371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatcctatctttggctcCgatggtggcatccactgtgg	11	11	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:76463371C>T	ENST00000388942.3	+	7	827	c.551C>T	c.(550-552)cCg>cTg	p.P184L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	184					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTTTGGCTCCGATGGTGGCA	0.602																																																	0								ENSG00000169758						55	52	53					15																	76463371		2197	4294	6491	C15orf27	SO:0001583	missense	0			-	HGNC	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.551C>T	15.37:g.76463371C>T	ENSP00000373594:p.Pro184Leu	Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	46.51	Q8N993|Q96LL5	Missense_Mutation	SNP							NULL	p.P184L	ENST00000388942.3	37	c.551	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320480	0.81469	.	.	ENSG00000169758	ENST00000388942	D	0.97186	-4.28	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000004	D	0.97155	0.9070	L	0.38953	1.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96444	0.9329	10	0.27785	T	0.31	-10.4107	17.0045	0.86389	0.0:1.0:0.0:0.0	.	184	Q2M3C6	CO027_HUMAN	L	184	ENSP00000373594:P184L	ENSP00000373594:P184L	P	+	2	0	C15orf27	74250426	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	7.197000	0.77814	2.247000	0.74100	0.561000	0.74099	CCG	-	NULL		0.602	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	protein_coding	OTTHUMT00000286637.2	C	NM_152335	-		76463371	1	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76463371	C	T	76463371	3	4	9	1	0	0	0	0	1	0	0	0	1790	652	23	1	573	1	C15orf27	15	76463371	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	1320382	76463371	26068021	260	691											
SCAPER	49855	genome.wustl.edu	37	chr15	76958035	76958036	+	Frame_Shift_Ins	INS	-	-	T													tctttttggctttttttttaINStttttttgccgctcttctcc					rs59982422		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:76958035_76958036insT	ENST00000563290.1	-	21	2698_2699	c.2603_2604insA	c.(2602-2604)aatfs	p.N868fs	SCAPER_ENST00000324767.7_Frame_Shift_Ins_p.N868fs|SCAPER_ENST00000538941.2_Frame_Shift_Ins_p.N622fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	868						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTTTTTTTTTATTTTTTTGCCG	0.347																																																	0								ENSG00000140386																																			SCAPER	SO:0001589	frameshift_variant	0				HGNC	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2604dupA	15.37:g.76958042_76958042dupT	ENSP00000454973:p.Asn868fs	Somatic	0	55	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Ins	INS							smart_Znf_U1	p.N868fs	ENST00000563290.1	37	c.2604_2603	CCDS53962.1	15																																																																																			-	NULL		0.347	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	protein_coding	OTTHUMT00000419698.1	-	NM_020843			76958036	-1	no_errors	ENST00000324767	ensembl	human	known	74_37	frame_shift_ins	INS	0.445:0.968	T	T	76958036	-	T	76958035	7	5	9	1	0	1	1	0	0	0	0	0	13886	446	16	0	1646	0	SCAPER	15	76958035	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	494664	76958035	25573357	261	692											
C15orf42	90381	genome.wustl.edu	37	chr15	90166933	90166933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatacaccacaaactcCgttgtatactccagaaaggc	5	14	1	1	rs201365800	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:90166933C>T	ENST00000268138.7	+	20	3497	c.3392C>T	c.(3391-3393)cCg>cTg	p.P1131L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1131					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCACAAACTCCGTTGTATACT	0.448													C|||	9	0.00179712	0	0	5008	,	,		17906	0		0	False		,,,				2504	0.0092																0								ENSG00000140534	C	LEU/PRO	0,3696		0,0,1848	165	163	163		3392	2.2	0	15		163	1,8177		0,1,4088	no	missense	C15orf42	NM_152259.3	98	0,1,5936	TT,TC,CC		0.0122,0.0,0.0084	benign	1131/1911	90166933	1,11873	1848	4089	5937	TICRR	SO:0001583	missense	0			-	HGNC	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3392C>T	15.37:g.90166933C>T	ENSP00000268138:p.Pro1131Leu	Somatic	0	61	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP							NULL	p.P1131L	ENST00000268138.7	37	c.3392	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642108	0.14451	0.0	1.22E-4	ENSG00000140534	ENST00000268138	T	0.09073	3.02	5.27	2.25	0.28309	.	0.208995	0.41938	N	0.000787	T	0.05456	0.0144	L	0.28740	0.885	0.09310	N	0.999999	B	0.17667	0.023	B	0.15052	0.012	T	0.39354	-0.9618	10	0.27785	T	0.31	-3.4785	5.3512	0.16036	0.1595:0.6522:0.0:0.1883	.	1131	Q7Z2Z1	TICRR_HUMAN	L	1131	ENSP00000268138:P1131L	ENSP00000268138:P1131L	P	+	2	0	C15orf42	87967937	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.593000	0.23999	0.165000	0.19558	-0.217000	0.12591	CCG	-	NULL		0.448	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	protein_coding	OTTHUMT00000312856.1	C	NM_152259	rs201365800		90166933	1	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	SNP	0.001	T	T	90166933	C	T	90166933	3	4	9	1	0	0	0	0	1	0	0	0	1798	652	23	1	3470	1	C15orf42	15	90166933	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	13208898	90166933	12364459	262	693											
RGMA	56963	genome.wustl.edu	37	chr15	93588731	93588731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagcggcccacctggcGcaccacgatggtggtgccga	15	14	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:93588731G>A	ENST00000329082.7	-	4	1121	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	RGMA_ENST00000425933.2_Missense_Mutation_p.R268C|RGMA_ENST00000538818.1_Missense_Mutation_p.R175C|RGMA_ENST00000557301.1_Missense_Mutation_p.R292C|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000542321.2_Missense_Mutation_p.R268C|RGMA_ENST00000556658.1_Missense_Mutation_p.R175C|RGMA_ENST00000543599.1_Missense_Mutation_p.R268C	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	284					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CCCACCTGGCGCACCACGATG	0.622																																																	0								ENSG00000182175						32	39	36					15																	93588731		2138	4234	6372	RGMA	SO:0001583	missense	0			-	HGNC	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.850C>T	15.37:g.93588731G>A	ENSP00000330005:p.Arg284Cys	Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.03	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP							pfam_RGM_N,pfam_RGM_C	p.R284C	ENST00000329082.7	37	c.850	CCDS45357.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950788	0.73787	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	4.87	2.76	0.32466	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95906	0.8919	10	0.87932	D	0	-18.6692	12.0703	0.53611	0.0:0.0:0.5766:0.4234	.	292;284	G3V518;Q96B86	.;RGMA_HUMAN	C	268;268;284;268;175;292	ENSP00000442498:R268C;ENSP00000404442:R268C;ENSP00000330005:R284C;ENSP00000440025:R268C;ENSP00000442546:R175C;ENSP00000452126:R292C	ENSP00000330005:R284C	R	-	1	0	RGMA	91389735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.211000	0.58507	1.007000	0.39238	0.491000	0.48974	CGC	-	pfam_RGM_C		0.622	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	protein_coding	OTTHUMT00000415091.1	G	NM_020211	-		93588731	-1	no_errors	ENST00000329082	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93588731	G	A	93588731	3	1	9	1	0	0	0	0	1	0	0	0	13288	1087	38	1	506	1	RGMA	15	93588731	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3421798	93588731	8942661	263	694											
SOLH	6650	genome.wustl.edu	37	chr16	597434	597434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccacgtcgtgcctgccgCgcctccacctggcctccccg	9	22	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:597434C>T	ENST00000219611.2	+	4	959	c.596C>T	c.(595-597)gCg>gTg	p.A199V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	199					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGCCTGCCGCGCCTCCACCT	0.756																																																	0								ENSG00000103326						5	8	7					16																	597434		1964	3963	5927	CAPN15	SO:0001583	missense	0			-	HGNC	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.596C>T	16.37:g.597434C>T	ENSP00000219611:p.Ala199Val	Somatic	0	9	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A199V	ENST00000219611.2	37	c.596	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	c	6.353	0.433244	0.12045	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88664	-2.41	5.09	2.05	0.26809	.	1.146100	0.06776	U	0.784400	T	0.76765	0.4033	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60078	-0.7333	10	0.18276	T	0.48	.	8.2089	0.31471	0.0:0.6303:0.2871:0.0826	.	199	O75808	CAN15_HUMAN	V	199	ENSP00000219611:A199V	ENSP00000219611:A199V	A	+	2	0	SOLH	537435	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	2.364000	0.44187	0.188000	0.20168	-1.652000	0.00757	GCG	-	NULL		0.756	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	protein_coding	OTTHUMT00000239271.1	C	NM_005632	-		597434	1	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	SNP	0.006	T	T	597434	C	T	597434	3	4	9	1	0	0	0	0	1	0	0	0	14933	768	27	1	598	1	SOLH	16	597434	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		597434	89757319	264	695											
ANKS3	124401	genome.wustl.edu	37	chr16	4780042	4780042	+	Frame_Shift_Del	DEL	G	G	-													agcagctgtgtgaagatccaGggggacatccagctcctccc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:4780042delG	ENST00000304283.4	-	3	403	c.109delC	c.(109-111)ctgfs	p.L37fs	ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000450067.2_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Frame_Shift_Del_p.L37fs	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	37										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGAAGATCCAGGGGGACATCC	0.582																																																	0								ENSG00000168096						144	125	131					16																	4780042		2197	4300	6497	ANKS3	SO:0001589	frameshift_variant	0				HGNC	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.109delC	16.37:g.4780042delG	ENSP00000304586:p.Leu37fs	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	8	61.90	B4DWU4|D3DUE2|Q8TF25	Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.L37fs	ENST00000304283.4	37	c.109	CCDS10520.1	16																																																																																			-	smart_Ankyrin_rpt		0.582	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	protein_coding	OTTHUMT00000251642.3	G	NM_133450			4780042	-1	no_errors	ENST00000304283	ensembl	human	known	74_37	frame_shift_del	DEL	0.948	-	-	4780042	G	-	4780042	7	5	9	1	0	1	0	1	0	0	0	0	690	991	35	0	1921	0	ANKS3	16	4780042	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4182608	4780042	85574711	265	696											
KIAA0556	23247	genome.wustl.edu	37	chr16	27732932	27732933	+	Frame_Shift_Ins	INS	-	-	T													tccacccaccactccagctgINSttttttgttattcgaaacac					rs372956161|rs146755387		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:27732932_27732933insT	ENST00000261588.4	+	14	1678_1679	c.1659_1660insT	c.(1660-1662)tttfs	p.F554fs	CTD-2049O4.1_ENST00000564893.1_RNA|Y_RNA_ENST00000364501.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000563052.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	554						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CACTCCAGCTGTTTTTTGTTAT	0.52																																																	0								ENSG00000047578																																			KIAA0556	SO:0001589	frameshift_variant	0				HGNC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1665dupT	16.37:g.27732938_27732938dupT	ENSP00000261588:p.Phe554fs	Somatic	0	60	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	57	32.14	A7E2C2	Frame_Shift_Ins	INS							superfamily_Thaumatin	p.V555fs	ENST00000261588.4	37	c.1659_1660	CCDS32415.1	16																																																																																			-	NULL		0.52	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	-	NM_015202			27732933	1	no_errors	ENST00000261588	ensembl	human	known	74_37	frame_shift_ins	INS	0.910:0.729	T	T	27732933	-	T	27732932	7	5	9	1	0	1	1	0	0	0	0	0	8185	1364	48	0	1713	0	KIAA0556	16	27732932	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	22952890	27732932	62621821	266	697											
APOB48R	55911	genome.wustl.edu	37	chr16	28508991	28508991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtggaggctggggggCttctagaaaagtggacgctg	18	7	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:28508991C>G	ENST00000431282.1	+	3	2612	c.2602C>G	c.(2602-2604)Ctt>Gtt	p.L868V	CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.L868V|APOBR_ENST00000564831.1_Missense_Mutation_p.L877V			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	868	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCTGGGGGGCTTCTAGAAAA	0.627																																																	0								ENSG00000184730						16	20	19					16																	28508991		1993	4162	6155	APOBR	SO:0001583	missense	0			-	HGNC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2602C>G	16.37:g.28508991C>G	ENSP00000416094:p.Leu868Val	Somatic	0	82	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	45	39.19	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP							NULL	p.L877V	ENST00000431282.1	37	c.2629		16	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026620	0.35797	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.74632	-0.86;-0.86	4.11	3.15	0.36227	.	.	.	.	.	T	0.69251	0.3090	L	0.34521	1.04	0.09310	N	1	P;D	0.54964	0.94;0.969	P;P	0.51135	0.66;0.66	T	0.59947	-0.7358	9	0.87932	D	0	0.8449	6.8351	0.23931	0.0:0.8759:0.0:0.1241	.	868;868	Q0VD83;Q9NS13	APOBR_HUMAN;.	V	868	ENSP00000327669:L868V;ENSP00000416094:L868V	ENSP00000327669:L868V	L	+	1	0	APOBR	28416492	0.007000	0.16637	0.103000	0.21229	0.039000	0.13416	0.101000	0.15251	2.236000	0.73375	0.457000	0.33378	CTT	-	NULL		0.627	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	protein_coding		C	NM_182804	-		28508991	1	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	SNP	0.028	G	G	28508991	C	G	28508991	3	3	9	1	0	0	0	0	1	0	0	0	786	797	28	4	2612	4	APOB48R	16	28508991	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	776059	28508991	61845762	267	698											
DOC2A	8448	genome.wustl.edu	37	chr16	30018553	30018553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgaaggcttgaggcggcGgaggggcacgcggatctccc	18	12	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:30018553G>A	ENST00000350119.4	-	6	785	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	DOC2A_ENST00000564944.1_Missense_Mutation_p.R199C|DOC2A_ENST00000564979.1_Missense_Mutation_p.R199C	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	199					nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TTGAGGCGGCGGAGGGGCACG	0.637																																																	0								ENSG00000149927						56	55	55					16																	30018553		2197	4300	6497	DOC2A	SO:0001583	missense	0			-	HGNC	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.595C>T	16.37:g.30018553G>A	ENSP00000340017:p.Arg199Cys	Somatic	0	34	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	48	14.29	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R199C	ENST00000350119.4	37	c.595	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984796	0.74474	.	.	ENSG00000149927	ENST00000350119	T	0.41065	1.01	5.44	3.3	0.37823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.52532	D	0.000072	T	0.52240	0.1722	L	0.59436	1.845	0.54753	D	0.999989	D	0.89917	1.0	D	0.65140	0.932	T	0.46219	-0.9207	10	0.39692	T	0.17	.	8.3921	0.32535	0.0854:0.0:0.7601:0.1545	.	199	Q14183	DOC2A_HUMAN	C	199	ENSP00000340017:R199C	ENSP00000340017:R199C	R	-	1	0	DOC2A	29926054	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.406000	0.44557	2.552000	0.86080	0.491000	0.48974	CGC	-	superfamily_C2_dom,smart_C2_dom,pirsf_Doc2		0.637	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	protein_coding	OTTHUMT00000255148.2	G	NM_003586	-		30018553	-1	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30018553	G	A	30018553	3	1	9	1	0	0	0	0	1	0	0	0	4685	1116	39	1	631	1	DOC2A	16	30018553	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1509562	30018553	60336200	268	699											
NKD1	85407	genome.wustl.edu	37	chr16	50666204	50666204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtaggttccagggtgaCagccgcctggagcagtctgg	16	11	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:50666204C>T	ENST00000268459.3	+	9	932	c.708C>T	c.(706-708)gaC>gaT	p.D236D		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	236					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCCAGGGTGACAGCCGCCTGG	0.557																																																	0								ENSG00000140807						66	56	59					16																	50666204		2198	4300	6498	NKD1	SO:0001819	synonymous_variant	0			-	HGNC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.708C>T	16.37:g.50666204C>T		Somatic	0	32	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	B2RC39|Q8WZ08	Silent	SNP							pfscan_EF_hand_dom	p.D236	ENST00000268459.3	37	c.708	CCDS10743.1	16																																																																																			-	NULL		0.557	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	protein_coding	OTTHUMT00000256873.1	C		-		50666204	1	no_errors	ENST00000268459	ensembl	human	known	74_37	silent	SNP	0.998	T	T	50666204	C	T	50666204	2	4	9	1	0	0	0	0	0	0	0	1	10443	477	17	2		2	NKD1	16	50666204	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	20647651	50666204	39688549	269	700											
TOX3	27324	genome.wustl.edu	37	chr16	52473616	52473616	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccatggtcgttcccatggAgcttatcagtggagccccaa	10	12	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:52473616A>T	ENST00000219746.9	-	7	1536	c.1252T>A	c.(1252-1254)Tcc>Acc	p.S418T	TOX3_ENST00000407228.3_Missense_Mutation_p.S413T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	418					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						GTTCCCATGGAGCTTATCAGT	0.542																																																	0								ENSG00000103460						163	160	161					16																	52473616		2160	4271	6431	TOX3	SO:0001583	missense	0			-	HGNC	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.1252T>A	16.37:g.52473616A>T	ENSP00000219746:p.Ser418Thr	Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	B4DRD0|B5MCW4	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S418T	ENST00000219746.9	37	c.1252	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495163	0.44352	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.12147	2.72;2.71	5.75	5.75	0.90469	.	0.156042	0.42053	D	0.000772	T	0.09158	0.0226	N	0.19112	0.55	0.37622	D	0.921333	D;P	0.53151	0.958;0.817	B;B	0.39465	0.3;0.237	T	0.35226	-0.9797	10	0.13470	T	0.59	.	16.056	0.80805	1.0:0.0:0.0:0.0	.	413;418	B4DRD0;O15405	.;TOX3_HUMAN	T	418;413	ENSP00000219746:S418T;ENSP00000385705:S413T	ENSP00000219746:S418T	S	-	1	0	TOX3	51031117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.985000	0.70556	2.178000	0.69098	0.533000	0.62120	TCC	-	NULL		0.542	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	protein_coding	OTTHUMT00000422534.1	A	XM_049037	-		52473616	-1	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52473616	A	T	52473616	3	4	9	1	0	0	0	0	1	0	0	0	16386	304	11	5	482	5	TOX3	16	52473616	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	1807412	52473616	37881137	270	701											
NUP93	9688	genome.wustl.edu	37	chr16	56867314	56867314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctctggacagagtgctcaGctccgtgagtatttgggatt	12	9	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:56867314G>T	ENST00000308159.5	+	13	1654	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H	NUP93_ENST00000569842.1_Missense_Mutation_p.Q511H|NUP93_ENST00000542526.1_Missense_Mutation_p.Q388H|NUP93_ENST00000564887.1_Missense_Mutation_p.Q388H	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	511					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						AGAGTGCTCAGCTCCGTGAGT	0.522																																					Colon(33;610 796 1305 1705 38917)												0								ENSG00000102900						60	53	56					16																	56867314		2198	4300	6498	NUP93	SO:0001583	missense	0			-	HGNC	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.1533G>T	16.37:g.56867314G>T	ENSP00000310668:p.Gln511His	Somatic	0	22	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	B3KPQ8|Q14705	Missense_Mutation	SNP							pfam_Nucleoporin_int_Nup93/Nic96	p.Q511H	ENST00000308159.5	37	c.1533	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732448	0.69189	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.45276	0.9;0.9	5.63	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.63428	1.95	0.58432	D	0.999998	D	0.65815	0.995	D	0.65443	0.935	T	0.59621	-0.7420	10	0.56958	D	0.05	-17.3918	11.3593	0.49633	0.192:0.0:0.808:0.0	.	511	Q8N1F7	NUP93_HUMAN	H	511;388	ENSP00000310668:Q511H;ENSP00000440235:Q388H	ENSP00000310668:Q511H	Q	+	3	2	NUP93	55424815	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.537000	0.53590	1.351000	0.45789	0.655000	0.94253	CAG	-	pfam_Nucleoporin_int_Nup93/Nic96		0.522	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	protein_coding	OTTHUMT00000257058.4	G	NM_014669	-		56867314	1	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56867314	G	T	56867314	3	4	9	1	0	0	0	0	1	0	0	0	10774	962	34	3	1579	3	NUP93	16	56867314	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4393698	56867314	33487439	271	702											
CCDC135	84229	genome.wustl.edu	37	chr16	57761251	57761251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagaggaagaggaggcggCgcacacactgaccatctcca	13	12	1	3	rs147667972	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:57761251C>T	ENST00000360716.3	+	16	2347	c.2126C>T	c.(2125-2127)gCg>gTg	p.A709V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A709V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A644V			Q8IY82	CC135_HUMAN		709					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GAGGAGGCGGCGCACACACTG	0.562																																																	0								ENSG00000159625		VAL/ALA	3,4393	6.2+/-15.9	0,3,2195	141	133	136		2126	1.3	0.1	16	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC135	NM_032269.5	64	0,5,6493	TT,TC,CC		0.0233,0.0682,0.0385	benign	709/875	57761251	5,12991	2198	4300	6498	CCDC135	SO:0001583	missense	0			-	HGNC																												ENST00000360716.3:c.2126C>T	16.37:g.57761251C>T	ENSP00000353942:p.Ala709Val	Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP							NULL	p.A709V	ENST00000360716.3	37	c.2126	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	c	4.045	0.005925	0.07866	6.82E-4	2.33E-4	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10860	2.99;2.83;2.99	4.47	1.32	0.21799	.	0.580561	0.17359	N	0.177115	T	0.07548	0.0190	L	0.45051	1.395	0.09310	N	1	B;B	0.22983	0.037;0.078	B;B	0.16722	0.009;0.016	T	0.34403	-0.9830	10	0.27785	T	0.31	-14.4906	3.2788	0.06908	0.3856:0.3853:0.1432:0.0859	.	644;709	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	709;644;709	ENSP00000377869:A709V;ENSP00000338938:A644V;ENSP00000353942:A709V	ENSP00000338938:A644V	A	+	2	0	CCDC135	56318752	0.001000	0.12720	0.135000	0.22099	0.021000	0.10359	0.033000	0.13754	0.096000	0.17463	-0.701000	0.03672	GCG	-	NULL		0.562	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	protein_coding	OTTHUMT00000433323.2	C		rs147667972		57761251	1	no_errors	ENST00000360716	ensembl	human	known	74_37	missense	SNP	0.046	T	T	57761251	C	T	57761251	3	4	9	1	0	0	0	0	1	0	0	0	2771	768	27	1	2180	1	CCDC135	16	57761251	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	893937	57761251	32593502	272	703											
KATNB1	3801	genome.wustl.edu	37	chr16	57790824	57790824	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccatggcagtaccttccGcgagctgcacctgctcatgg	11	16	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:57790824G>A	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.R645H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGTACCTTCCGCGAGCTGCAC	0.642																																																	0								ENSG00000140854						15	12	13					16																	57790824		2164	4246	6410	KATNB1	SO:0001628	intergenic_variant	0			-	HGNC	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57790824G>A		Somatic	0	55	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	53	38.64	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R645H	ENST00000379655.4	37	c.1934	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567449	0.86439	.	.	ENSG00000140854	ENST00000379661	T	0.64991	-0.13	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.80396	0.4615	M	0.80422	2.495	0.53688	D	0.999977	D	0.89917	1.0	D	0.79784	0.993	D	0.83680	0.0171	10	0.87932	D	0	-19.2134	17.2403	0.87011	0.0:0.0:1.0:0.0	.	645	Q9BVA0	KTNB1_HUMAN	H	645	ENSP00000368982:R645H	ENSP00000368982:R645H	R	+	2	0	KATNB1	56348325	1.000000	0.71417	0.949000	0.38748	0.970000	0.65996	3.392000	0.52537	2.318000	0.78349	0.561000	0.74099	CGC	-	NULL		0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KATNB1	protein_coding	OTTHUMT00000257329.2	G	NM_005550	-		57790824	1	no_errors	ENST00000379661	ensembl	human	known	74_37	missense	SNP	0.996	A	A	57790824	G	A	57790824	1	1	9	0	1	0	0	0	0	0	0	0	7989	1087	38	1		1	KATNB1	16	57790824	IGR	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	29573	57790824	32563929	273	704											
RANBP10	57610	genome.wustl.edu	37	chr16	67765377	67765380	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													aagtagaataaaccttacttTgtctgttctttatggacgcc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:67765377_67765380delTGTC	ENST00000317506.3	-	7	999_1002	c.884_887delGACA	c.(883-888)agacaafs	p.RQ295fs	RANBP10_ENST00000425512.2_Frame_Shift_Del_p.RQ163fs|RANBP10_ENST00000536251.1_Frame_Shift_Del_p.RQ66fs|RANBP10_ENST00000448631.2_Frame_Shift_Del_p.RQ239fs|RANBP10_ENST00000411657.2_Frame_Shift_Del_p.RQ178fs|RANBP10_ENST00000602677.1_Frame_Shift_Del_p.RQ295fs	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	295	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Q296P(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AACCTTACTTTGTCTGTTCTTTAT	0.485																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000141084																																			RANBP10	SO:0001589	frameshift_variant	0				HGNC	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.884_887delGACA	16.37:g.67765377_67765380delTGTC	ENSP00000316589:p.Arg295fs	Somatic	0	89	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	49	44.32	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Frame_Shift_Del	DEL							pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R295fs	ENST00000317506.3	37	c.887_884	CCDS32469.1	16																																																																																			-	smart_CTLH_C,pfscan_CTLH_C		0.485	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	protein_coding	OTTHUMT00000467896.1	TGTC	NM_020850			67765380	-1	no_errors	ENST00000317506	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	67765380	TGTC	-	67765377	7	5	9	1	0	1	0	1	0	0	0	0	13034	1812	63	0	1007	0	RANBP10	16	67765377	Frame_Shift_Del	DEL	TGTC	TCGA-3B-A9HT-01A-11D-A38Z-09	9974553	67765377	22589376	274	705											
SLC12A4	6560	genome.wustl.edu	37	chr16	67985101	67985101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggatgtggcgatgtcagcGaccacgtacagaggcaggct	15	9	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:67985101G>A	ENST00000316341.3	-	9	1379	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	SLC12A4_ENST00000537830.2_Silent_p.V407V|SLC12A4_ENST00000572037.1_Silent_p.V365V|SLC12A4_ENST00000338335.3_Silent_p.V413V|SLC12A4_ENST00000541864.2_Silent_p.V382V|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000576616.1_Silent_p.V413V|SLC12A4_ENST00000422611.2_Silent_p.V415V	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	413					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGTCAGCGACCACGTACA	0.622																																																	0								ENSG00000124067						174	149	157					16																	67985101		2198	4300	6498	SLC12A4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1239C>T	16.37:g.67985101G>A		Somatic	0	10	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	7	58.82	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP							pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.V415	ENST00000316341.3	37	c.1245	CCDS10855.1	16																																																																																			-	tigrfam_Na/K/Cl_cotransptS		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	protein_coding	OTTHUMT00000268864.4	G	NM_005072	-		67985101	-1	no_errors	ENST00000422611	ensembl	human	known	74_37	silent	SNP	0.597	A	A	67985101	G	A	67985101	2	1	9	1	0	0	0	0	0	0	0	1	14393	1045	37	1		1	SLC12A4	16	67985101	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	219724	67985101	22369652	275	706											
HYDIN	54768	genome.wustl.edu	37	chr16	70866948	70866949	+	Frame_Shift_Ins	INS	-	-	T													atggagaaatgaggctcaaaINSttttttgatgtcccatttaa							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:70866948_70866949insT	ENST00000393567.2	-	80	13851_13852	c.13701_13702insA	c.(13699-13704)aaatttfs	p.F4568fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4568					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)				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)				TGAGGCTCAAATTTTTTGATGT	0.411																																																	0								ENSG00000157423																																			HYDIN	SO:0001589	frameshift_variant	0				HGNC	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.13702dupA	16.37:g.70866954_70866954dupT	ENSP00000377197:p.Phe4568fs	Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	73	29.81	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS							superfamily_P-loop_NTPase,superfamily_PapD-like	p.F4567fs	ENST00000393567.2	37	c.13702_13701	CCDS59269.1	16																																																																																			-	NULL		0.411	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	-				70866949	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	frame_shift_ins	INS	0.004:0.002	T	T	70866949	-	T	70866948	7	5	9	1	0	1	1	0	0	0	0	0	7469	101	4	0	1691	0	HYDIN	16	70866948	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	2881847	70866948	19487805	276	707											
FTSJD1	55783	genome.wustl.edu	37	chr16	71318037	71318037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggagtcgaacttccaacGgtatatgcattttgatatta	8	7	0	1	rs189091912		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:71318037G>A	ENST00000338099.5	-	3	2123	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	CMTR2_ENST00000434935.2_Missense_Mutation_p.P596L			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	596					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AACTTCCAACGGTATATGCAT	0.438													G|||	1	0.000199681	0	0.0014	5008	,	,		17862	0		0	False		,,,				2504	0																0								ENSG00000180917						46	44	45					16																	71318037		2198	4299	6497	CMTR2	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1787C>T	16.37:g.71318037G>A	ENSP00000337512:p.Pro596Leu	Somatic	0	50	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP							pfam_rRNA_MeTrfase_FtsJ_dom	p.P596L	ENST00000338099.5	37	c.1787	CCDS10898.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.286	-0.983105	0.02180	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.13538	2.58;2.58	6.04	5.03	0.67393	.	0.665350	0.15132	N	0.278780	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31837	0.342	B	0.20184	0.028	T	0.28073	-1.0055	10	0.10902	T	0.67	-10.3677	9.6773	0.40047	0.0:0.2448:0.6224:0.1328	.	596	Q8IYT2	FTSJ1_HUMAN	L	596	ENSP00000337512:P596L;ENSP00000411148:P596L	ENSP00000337512:P596L	P	-	2	0	FTSJD1	69875538	0.000000	0.05858	0.078000	0.20375	0.013000	0.08279	0.835000	0.27531	2.873000	0.98535	0.561000	0.74099	CCG	-	NULL		0.438	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTR2	protein_coding	OTTHUMT00000268984.2	G	NM_018348	rs189091912		71318037	-1	no_errors	ENST00000338099	ensembl	human	known	74_37	missense	SNP	0.001	A	A	71318037	G	A	71318037	3	1	9	1	0	0	0	0	1	0	0	0	6092	1116	39	1	529	1	FTSJD1	16	71318037	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	451089	71318037	19036716	277	708											
PRDM7	11105	genome.wustl.edu	37	chr16	90128855	90128855	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctctttgtatgcatgAccctttctttctcgcaggct	7	12	3	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:90128855A>T	ENST00000449207.2	-	6	583	c.564T>A	c.(562-564)ggT>ggA	p.G188G	PRDM7_ENST00000325921.6_5'Flank|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	188					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTATGCATGACCCTTTCTTT	0.478																																																	0								ENSG00000126856						214	215	215					16																	90128855		1982	4180	6162	PRDM7	SO:0001819	synonymous_variant	0			-	HGNC	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.564T>A	16.37:g.90128855A>T		Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84	A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP							pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G188	ENST00000449207.2	37	c.564	CCDS45557.1	16																																																																																			-	pfam_SSXRD_motif		0.478	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	protein_coding	OTTHUMT00000420560.1	A		-		90128855	-1	no_errors	ENST00000449207	ensembl	human	known	74_37	silent	SNP	0.001	T	T	90128855	A	T	90128855	2	4	9	1	0	0	0	0	0	0	0	1	12466	262	10	5		5	PRDM7	16	90128855	Silent	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	18810818	90128855	225898	278	709											
MYO1C	4641	genome.wustl.edu	37	chr17	1370618	1370618	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtgccatccctgccggggCcccctgcaaacgtgatgctg	13	15	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:1370618C>G	ENST00000575158.1	-	31	3154	c.2978G>C	c.(2977-2979)gGc>gCc	p.G993A	MYO1C_ENST00000361007.2_Missense_Mutation_p.G993A|MYO1C_ENST00000438665.2_Missense_Mutation_p.G1009A|MYO1C_ENST00000545534.2_Missense_Mutation_p.G1004A|MYO1C_ENST00000359786.5_Missense_Mutation_p.G1028A			Q12965	MYO1E_HUMAN	myosin IC	181					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGCCGGGGCCCCCTGCAAA	0.647																																																	0								ENSG00000197879						39	33	35					17																	1370618		2203	4300	6503	MYO1C	SO:0001583	missense	0			-	HGNC	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2978G>C	17.37:g.1370618C>G	ENSP00000459174:p.Gly993Ala	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	41	39.71	Q14778	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1028A	ENST00000575158.1	37	c.3083	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522728	0.13066	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.32	5.32	0.75619	Myosin tail 2 (1);	0.051746	0.85682	D	0.000000	T	0.25121	0.0610	N	0.21373	0.66	0.44555	D	0.997512	B;B	0.11235	0.004;0.002	B;B	0.14578	0.009;0.011	T	0.07888	-1.0749	10	0.06494	T	0.89	.	18.155	0.89688	0.0:1.0:0.0:0.0	.	1028;1009	O00159;O00159-3	MYO1C_HUMAN;.	A	1028;1009;1009;993;1004	ENSP00000352834:G1028A;ENSP00000412197:G1009A;ENSP00000354283:G993A;ENSP00000437685:G1004A	ENSP00000352834:G1028A	G	-	2	0	MYO1C	1317368	0.994000	0.37717	0.998000	0.56505	0.884000	0.51177	3.429000	0.52800	2.769000	0.95229	0.563000	0.77884	GGC	-	pfam_Myosin_tail_2		0.647	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	protein_coding	OTTHUMT00000438694.2	C		-		1370618	-1	no_errors	ENST00000359786	ensembl	human	known	74_37	missense	SNP	0.997	G	G	1370618	C	G	1370618	3	3	9	1	0	0	0	0	1	0	0	0	10072	739	26	4	116	4	MYO1C	17	1370618	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		1370618	79824592	279	710											
CAMTA2	23125	genome.wustl.edu	37	chr17	4875806	4875806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgccatccgacagctcCgagggcgaggagacgctgct	15	12	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:4875806C>T	ENST00000348066.3	-	16	2652	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	CAMTA2_ENST00000381311.5_Silent_p.S845S|CAMTA2_ENST00000572543.1_Silent_p.S848S|CAMTA2_ENST00000361571.5_Silent_p.S842S|CAMTA2_ENST00000414043.3_Silent_p.S866S|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Silent_p.S843S	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	843					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCGACAGCTCCGAGGGCGAGG	0.632																																																	0								ENSG00000108509						13	14	14					17																	4875806		2199	4291	6490	CAMTA2	SO:0001819	synonymous_variant	0			-	HGNC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2529G>A	17.37:g.4875806C>T		Somatic	0	17	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP							pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S866	ENST00000348066.3	37	c.2598	CCDS11063.1	17																																																																																			-	NULL		0.632	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	protein_coding	OTTHUMT00000216876.1	C	NM_015099	-		4875806	-1	no_errors	ENST00000414043	ensembl	human	known	74_37	silent	SNP	0.623	T	T	4875806	C	T	4875806	2	4	9	1	0	0	0	0	0	0	0	1	2616	639	23	1		1	CAMTA2	17	4875806	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3505188	4875806	76319404	280	711											
SENP3	26168	genome.wustl.edu	37	chr17	7466910	7466910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatctttcaccccagcaaGggggtgcgacgccacaggtg	12	14	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:7466910G>T	ENST00000429205.2	+	2	566	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.G173W			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	173						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				ACCCCAGCAAGGGGGTGCGAC	0.662																																																	0								ENSG00000161956						9	12	11					17																	7466910		1870	4066	5936	SENP3	SO:0001583	missense	0			-	HGNC	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.517G>T	17.37:g.7466910G>T	ENSP00000403712:p.Gly173Trp	Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP							pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G173W	ENST00000429205.2	37	c.517		17	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626199	0.66901	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.57752	0.38;0.39	5.52	4.55	0.56014	.	0.000000	0.45606	D	0.000348	T	0.45617	0.1351	N	0.19112	0.55	0.36609	D	0.875099	D	0.53745	0.962	P	0.51297	0.665	T	0.54437	-0.8294	10	0.45353	T	0.12	-13.0766	10.1241	0.42639	0.0892:0.0:0.9108:0.0	.	173	Q9H4L4	SENP3_HUMAN	W	173	ENSP00000314029:G173W;ENSP00000403712:G173W	ENSP00000314029:G173W	G	+	1	0	SENP3	7407634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.134000	0.50538	1.573000	0.49748	0.563000	0.77884	GGG	-	NULL		0.662	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	protein_coding		G	NM_015670	-		7466910	1	no_errors	ENST00000429205	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7466910	G	T	7466910	3	4	9	1	0	0	0	0	1	0	0	0	14056	1000	35	3	519	3	SENP3	17	7466910	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2591104	7466910	73728300	281	712											
TP53	7157	genome.wustl.edu	37	chr17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagaagatgacaggggCcaggagggggctggtgcagg	22	6	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:7579414C>T	ENST00000269305.4	-	4	462	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (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.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(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)	ATGACAGGGGCCAGGAGGGGG	0.627		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	33	Substitution - Nonsense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(10)|upper_aerodigestive_tract(6)|breast(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|prostate(1)|liver(1)	GRCh37	CM065495	TP53	M		ENSG00000141510						44	50	48					17																	7579414		2203	4300	6503	TP53	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;	-	HGNC	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.273G>A	17.37:g.7579414C>T	ENSP00000269305:p.Trp91*	Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W91*	ENST00000269305.4	37	c.273	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552604	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	8.8476	0.35179	0.0:0.8991:0.0:0.1009	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	3	0	TP53	7520139	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.567000	0.36407	2.561000	0.86390	0.561000	0.74099	TGG	-	NULL		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7579414	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	7579414	C	T	7579414	4	4	9	1	0	0	0	0	0	1	0	0	16388	740	26	2	1029	2	TP53	17	7579414	Nonsense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	112504	7579414	73615796	282	713											
DNAH9	1770	genome.wustl.edu	37	chr17	11837275	11837276	+	Frame_Shift_Del	DEL	CT	CT	-													cagatgactgggacagaagaCtctgcagaacctacctgggg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:11837275_11837276delCT	ENST00000262442.4	+	65	12444_12445	c.12376_12377delCT	c.(12376-12378)ctcfs	p.L4126fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.L4050fs|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Frame_Shift_Del_p.L438fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4126					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)		GGACAGAAGACTCTGCAGAACC	0.495																																																	0								ENSG00000007174																																			DNAH9	SO:0001589	frameshift_variant	0				HGNC	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.12376_12377delCT	17.37:g.11837277_11837278delCT	ENSP00000262442:p.Leu4126fs	Somatic	0	78	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	50	12.28	A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C4127fs	ENST00000262442.4	37	c.12376_12377	CCDS11160.1	17																																																																																			-	pfam_Dynein_heavy_dom		0.495	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	CT	NM_001372			11837276	1	no_errors	ENST00000262442	ensembl	human	known	74_37	frame_shift_del	DEL	0.999:1.000	-	-	11837276	CT	-	11837275	7	5	9	1	0	1	0	1	0	0	0	0	4610	565	20	0	12634	0	DNAH9	17	11837275	Frame_Shift_Del	DEL	CT	TCGA-3B-A9HT-01A-11D-A38Z-09	4257861	11837275	69357935	283	714											
KSR1	8844	genome.wustl.edu	37	chr17	25932715	25932715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctggagatggacggcCacaaccaggaccacctgaag	13	13	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:25932715C>A	ENST00000319524.6	+	15	1936	c.1936C>A	c.(1936-1938)Cac>Aac	p.H646N	KSR1_ENST00000268763.6_Missense_Mutation_p.H509N|KSR1_ENST00000509603.2_Missense_Mutation_p.H624N|KSR1_ENST00000398988.3_Missense_Mutation_p.H509N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATGGACGGCCACAACCAGGA	0.657																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0								ENSG00000141068						18	20	20					17																	25932715		2035	4188	6223	KSR1	SO:0001583	missense	0			-	HGNC	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1936C>A	17.37:g.25932715C>A	ENSP00000323178:p.His646Asn	Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H646N	ENST00000319524.6	37	c.1936		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.675|9.675	1.147655|1.147655	0.21288|0.21288	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	D;D;D|.	0.82167|.	-1.58;-1.58;-1.58|.	5.67|5.67	3.47|3.47	0.39725|0.39725	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.082550|.	0.85682|.	D|.	0.000000|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.01168|0.01168	-0.975|-0.975	0.37409|0.37409	D|D	0.913164|0.913164	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.0|.	T|T	0.17349|0.17349	-1.0372|-1.0372	10|5	0.27785|.	T|.	0.31|.	.|.	13.2547|13.2547	0.60073|0.60073	0.4023:0.5977:0.0:0.0|0.4023:0.5977:0.0:0.0	.|.	644;624|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	N|Q	646;624;509;509|359	ENSP00000323178:H646N;ENSP00000438795:H624N;ENSP00000268763:H509N|.	ENSP00000268763:H509N|.	H|P	+|+	1|2	0|0	KSR1|KSR1	22956842|22956842	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.186000|3.186000	0.50942|0.50942	1.383000|1.383000	0.46405|0.46405	0.655000|0.655000	0.94253|0.94253	CAC|CCA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.657	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	protein_coding		C	NM_014238	-		25932715	1	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25932715	C	A	25932715	3	1	9	1	0	0	0	0	1	0	0	0	8583	594	21	3	1571	3	KSR1	17	25932715	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	14095440	25932715	55262495	284	715											
ANKRD13B	124930	genome.wustl.edu	37	chr17	27935228	27935228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcccaggacttctacGtggagatgaaatgggagttc	13	9	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:27935228G>A	ENST00000394859.3	+	4	545	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	131						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GGACTTCTACGTGGAGATGAA	0.622																																																	0								ENSG00000198720						84	78	80					17																	27935228		2203	4300	6503	ANKRD13B	SO:0001583	missense	0			-	HGNC	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.391G>A	17.37:g.27935228G>A	ENSP00000378328:p.Val131Met	Somatic	0	64	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	Q8N7S9	Missense_Mutation	SNP							pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.V131M	ENST00000394859.3	37	c.391	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447750	0.84101	.	.	ENSG00000198720	ENST00000394859	T	0.54866	0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	N	0.17901	0.54	0.80722	D	1	P	0.45634	0.863	B	0.43386	0.418	T	0.41360	-0.9513	10	0.45353	T	0.12	-28.7124	20.177	0.98182	0.0:0.0:1.0:0.0	.	131	Q86YJ7	AN13B_HUMAN	M	131	ENSP00000378328:V131M	ENSP00000378328:V131M	V	+	1	0	ANKRD13B	24959354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.953000	0.87836	2.854000	0.98071	0.655000	0.94253	GTG	-	NULL		0.622	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	protein_coding	OTTHUMT00000256077.1	G	NM_152345	-		27935228	1	no_errors	ENST00000394859	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27935228	G	A	27935228	3	1	9	1	0	0	0	0	1	0	0	0	642	1145	40	1	405	1	ANKRD13B	17	27935228	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	2002513	27935228	53259982	285	716											
NF1	4763	genome.wustl.edu	37	chr17	29552144	29552144	+	Frame_Shift_Del	DEL	T	T	-													aagttcctgtcactttctccTtttttacggggtaggatgtg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:29552144delT	ENST00000358273.4	+	17	2260	c.1877delT	c.(1876-1878)cttfs	p.L626fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L626fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	626					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)	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)		CACTTTCTCCTTTTTTACGGG	0.393			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)						ENSG00000196712						137	141	140					17																	29552144		2203	4300	6503	NF1	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		HGNC		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.1877delT	17.37:g.29552144delT	ENSP00000351015:p.Leu626fs	Somatic	0	33	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Y628fs	ENST00000358273.4	37	c.1877	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	T	NM_000267			29552144	1	no_errors	ENST00000358273	ensembl	human	known	74_37	frame_shift_del	DEL	0.976	-	-	29552144	T	-	29552144	7	5	9	1	0	1	0	1	0	0	0	0	10358	1609	56	0	2004	0	NF1	17	29552144	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	1616916	29552144	51643066	286	717											
NR1D1	9572	genome.wustl.edu	37	chr17	38252833	38252833	+	Frame_Shift_Del	DEL	A	A	-													tctgctggatgctccgacggAaaaagccctggagggcaggg							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:38252833delA	ENST00000246672.3	-	4	1097	c.467delT	c.(466-468)ttcfs	p.F156fs		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	156	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCTCCGACGGAAAAAGCCCTG	0.597																																																	0								ENSG00000126368						97	90	92					17																	38252833		2203	4300	6503	NR1D1	SO:0001589	frameshift_variant	0				HGNC	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.467delT	17.37:g.38252833delA	ENSP00000246672:p.Phe156fs	Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q0P5Z4|Q15304	Frame_Shift_Del	DEL							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.F156fs	ENST00000246672.3	37	c.467	CCDS11361.1	17																																																																																			-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.597	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	protein_coding	OTTHUMT00000257135.1	A				38252833	-1	no_errors	ENST00000246672	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	38252833	A	-	38252833	7	5	9	1	0	1	0	1	0	0	0	0	10617	246	9	0	1397	0	NR1D1	17	38252833	Frame_Shift_Del	DEL	A	TCGA-3B-A9HT-01A-11D-A38Z-09	8700689	38252833	42942377	287	718											
KRT222	125113	genome.wustl.edu	37	chr17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-													agcctcttcatctttgtccaTttttttgcttatgtcttctt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:38818272delT	ENST00000476049.1	-	2	162	c.121delA	c.(121-123)atgfs	p.M41fs	KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs			Q8N1A0	KT222_HUMAN	keratin 222	41						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTTGTCCATTTTTTTGCTT	0.428																																																	0								ENSG00000213424						129	122	124					17																	38818272		2203	4300	6503	KRT222	SO:0001589	frameshift_variant	0				HGNC	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"-"	28695	protein-coding gene	gene with protein product			"keratin 222 pseudogene"	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.121delA	17.37:g.38818272delT	ENSP00000463483:p.Met41fs	Somatic	0	51	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	Q7Z368	Frame_Shift_Del	DEL							pfam_IF,prints_Keratin_I	p.M41fs	ENST00000476049.1	37	c.121	CCDS11371.1	17																																																																																			-	pfam_IF		0.428	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KRT222	protein_coding	OTTHUMT00000447539.1	T	NM_152349			38818272	-1	no_errors	ENST00000394052	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	38818272	T	-	38818272	7	5	9	1	0	1	0	1	0	0	0	0	8461	1493	52	0	786	0	KRT222	17	38818272	Frame_Shift_Del	DEL	T	TCGA-3B-A9HT-01A-11D-A38Z-09	565439	38818272	42376938	288	719											
KRT20	54474	genome.wustl.edu	37	chr17	39041314	39041314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggagatgcggatgccccGgcctccagcacccccataaa	11	15	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:39041314G>A	ENST00000167588.3	-	1	165	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	42	Head.				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)				CGGATGCCCCGGCCTCCAGCA	0.607																																																	0								ENSG00000171431						62	59	60					17																	39041314		2203	4300	6503	KRT20	SO:0001583	missense	0			-	HGNC	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.124C>T	17.37:g.39041314G>A	ENSP00000167588:p.Arg42Trp	Somatic	0	41	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	B2R6W7	Missense_Mutation	SNP							pfam_IF,prints_Keratin_I	p.R42W	ENST00000167588.3	37	c.124	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	G	2.909	-0.225766	0.06022	.	.	ENSG00000171431	ENST00000167588	D	0.83506	-1.73	5.79	-0.787	0.10943	.	1.197440	0.05828	N	0.616999	T	0.63022	0.2476	N	0.05351	-0.065	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	10	0.36615	T	0.2	.	1.9583	0.03381	0.4677:0.1344:0.2605:0.1374	.	42	P35900	K1C20_HUMAN	W	42	ENSP00000167588:R42W	ENSP00000167588:R42W	R	-	1	2	KRT20	36294840	0.008000	0.16893	0.023000	0.16930	0.008000	0.06430	0.210000	0.17455	-0.099000	0.12263	-1.808000	0.00615	CGG	-	NULL		0.607	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	protein_coding	OTTHUMT00000257202.2	G		-		39041314	-1	no_errors	ENST00000167588	ensembl	human	known	74_37	missense	SNP	0.000	A	A	39041314	G	A	39041314	3	1	9	1	0	0	0	0	1	0	0	0	8460	1115	39	1	1182	1	KRT20	17	39041314	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	223042	39041314	42153896	289	720											
IMP5	162540	genome.wustl.edu	37	chr17	43922898	43922898	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgggccggcctgaccgAagccaaccggctacagcggc	13	16	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:43922898A>C	ENST00000329196.5	+	1	643	c.626A>C	c.(625-627)gAa>gCa	p.E209A	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	209						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GGCCTGACCGAAGCCAACCGG	0.642																																																	0								ENSG00000185294						51	45	47					17																	43922898		2203	4299	6502	SPPL2C	SO:0001583	missense	0			-	HGNC		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.626A>C	17.37:g.43922898A>C	ENSP00000332488:p.Glu209Ala	Somatic	0	28	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	Q8TC67|Q8WVZ6	Missense_Mutation	SNP							pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.E209A	ENST00000329196.5	37	c.626	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	A	8.185	0.794714	0.16327	.	.	ENSG00000185294	ENST00000329196	T	0.05319	3.46	5.03	5.03	0.67393	.	0.000000	0.43110	D	0.000606	T	0.10252	0.0251	M	0.78637	2.42	0.33359	D	0.572039	B	0.22683	0.073	B	0.23419	0.046	T	0.05354	-1.0890	10	0.20519	T	0.43	-20.3953	11.0652	0.47972	1.0:0.0:0.0:0.0	.	209	Q8IUH8	IMP5_HUMAN	A	209	ENSP00000332488:E209A	ENSP00000332488:E209A	E	+	2	0	AC217771.1	41278678	0.841000	0.29509	0.817000	0.32601	0.010000	0.07245	2.173000	0.42472	2.113000	0.64589	0.533000	0.62120	GAA	-	NULL		0.642	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	protein_coding	OTTHUMT00000441156.1	A	NM_175882	-		43922898	1	no_errors	ENST00000329196	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43922898	A	C	43922898	3	2	9	1	0	0	0	0	1	0	0	0	7723	246	9	5	628	5	IMP5	17	43922898	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	4881584	43922898	37272312	290	721											
MAPT	4137	genome.wustl.edu	37	chr17	44067384	44067384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttcctctcctaaataCgtctcttctgtcacttcccg	3	18	4	0	rs556489804		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:44067384C>T	ENST00000571987.1	+	7	1323	c.1323C>T	c.(1321-1323)taC>taT	p.Y441Y	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000415613.2_Silent_p.Y441Y|MAPT_ENST00000262410.5_Silent_p.Y441Y|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Silent_p.Y441Y|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	441			Y -> H (in dbSNP:rs2258689). {ECO:0000269|PubMed:1420178, ECO:0000269|PubMed:15365985, ECO:0000269|PubMed:9629852}.		adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCCTAAATACGTCTCTTCTG	0.537																																																	0								ENSG00000186868						157	158	157					17																	44067384		2203	4300	6503	MAPT	SO:0001819	synonymous_variant	0			-	HGNC	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1323C>T	17.37:g.44067384C>T		Somatic	0	47	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	30	47.37	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP							pfam_MAP_tubulin-bd_rpt,prints_Tau	p.Y441	ENST00000571987.1	37	c.1323	CCDS11501.1	17																																																																																			-	NULL		0.537	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	protein_coding	OTTHUMT00000440133.1	C	NM_016835	-		44067384	1	no_errors	ENST00000344290	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44067384	C	T	44067384	2	4	9	1	0	0	0	0	0	0	0	1	9299	547	19	1		1	MAPT	17	44067384	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	144486	44067384	37127826	291	722											
SEPT4	5414	genome.wustl.edu	37	chr17	56599400	56599400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttctttcggttcaggCcactctcgtctcggaaatac	10	11	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:56599400C>T	ENST00000317268.3	-	6	901	c.725G>A	c.(724-726)gGc>gAc	p.G242D	SEPT4_ENST00000393086.1_Missense_Mutation_p.G223D|SEPT4_ENST00000457347.2_Missense_Mutation_p.G257D|SEPT4_ENST00000580809.1_Missense_Mutation_p.G124D|SEPT4_ENST00000580844.1_Missense_Mutation_p.G143D|SEPT4_ENST00000579371.1_Missense_Mutation_p.G143D|SEPT4_ENST00000583114.1_Missense_Mutation_p.G95D|SEPT4_ENST00000412945.3_Missense_Mutation_p.G234D|SEPT4_ENST00000317256.6_Missense_Mutation_p.G223D|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.G223D	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	242	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGTTCAGGCCACTCTCGTC	0.537																																																	0								ENSG00000108387						180	149	160					17																	56599400		2203	4300	6503	SEPT4	SO:0001583	missense	0			-	HGNC	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.725G>A	17.37:g.56599400C>T	ENSP00000321674:p.Gly242Asp	Somatic	0	36	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP							pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	p.G257D	ENST00000317268.3	37	c.770	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437824	0.43326	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.98;0.99;1.0;0.99;1.0	T	0.70525	-0.4848	10	0.72032	D	0.01	.	17.7759	0.88508	0.0:1.0:0.0:0.0	.	234;257;95;223;223;95;242	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	D	234;256;223;242;223;223	ENSP00000414779:G234D;ENSP00000321071:G223D;ENSP00000321674:G242D;ENSP00000376801:G223D;ENSP00000402348:G223D	ENSP00000321071:G223D	G	-	2	0	SEPT4	53954399	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	GGC	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase		0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	protein_coding	OTTHUMT00000445420.1	C	NM_080417	-		56599400	-1	no_errors	ENST00000457347	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56599400	C	T	56599400	3	4	9	1	0	0	0	0	1	0	0	0	14074	739	26	2	824	2	SEPT4	17	56599400	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	12532016	56599400	24595810	292	723											
BAIAP2	10458	genome.wustl.edu	37	chr17	79027510	79027510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagcctccggaacttcatcGccatggggaagaattacgag	11	11	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:79027510G>A	ENST00000321300.6	+	2	190	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000321280.7_Missense_Mutation_p.A33T|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Missense_Mutation_p.A66T|BAIAP2_ENST00000428708.2_Missense_Mutation_p.A33T|BAIAP2_ENST00000435091.3_Missense_Mutation_p.A33T|BAIAP2_ENST00000575712.1_Missense_Mutation_p.A33T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	33	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAACTTCATCGCCATGGGGAA	0.602																																																	0								ENSG00000175866						149	131	137					17																	79027510		2203	4300	6503	BAIAP2	SO:0001583	missense	0			-	HGNC	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.97G>A	17.37:g.79027510G>A	ENSP00000316338:p.Ala33Thr	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	54	17.91	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP							pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A33T	ENST00000321300.6	37	c.97	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584695	0.13749	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.34	4.32	0.51571	IRSp53/MIM homology domain (IMD) (3);	0.128369	0.51477	D	0.000092	T	0.17365	0.0417	N	0.22421	0.69	0.80722	D	1	P;B;B;B;B;B	0.38677	0.642;0.162;0.205;0.162;0.361;0.162	B;B;B;B;B;B	0.20184	0.026;0.015;0.028;0.015;0.015;0.019	T	0.08680	-1.0710	10	0.11794	T	0.64	-1.9757	12.406	0.55441	0.0:0.0:0.7677:0.2323	.	33;33;33;33;33;33	Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	BAIP2_HUMAN;.;.;.;.;.	T	33	ENSP00000316338:A33T;ENSP00000401022:A33T;ENSP00000413069:A33T;ENSP00000315685:A33T	ENSP00000315685:A33T	A	+	1	0	BAIAP2	76642105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.474000	0.53129	2.496000	0.84212	0.655000	0.94253	GCC	-	pfam_IRSp53/MIM_homology_IMD		0.602	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	protein_coding	OTTHUMT00000438553.1	G		-		79027510	1	no_errors	ENST00000321300	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79027510	G	A	79027510	3	1	9	1	0	0	0	0	1	0	0	0	1301	1087	38	1	103	1	BAIAP2	17	79027510	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	22428110	79027510	2167700	293	724											
KIAA0802	23255	genome.wustl.edu	37	chr18	8786056	8786056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggacaccgggagccaCgggctgggaggccagacctg	19	12	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr18:8786056C>T	ENST00000306329.11	+	6	2934	c.2934C>T	c.(2932-2934)caC>caT	p.H978H	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.H618H|SOGA2_ENST00000517570.1_Silent_p.H618H|SOGA2_ENST00000359865.3_Silent_p.H618H																							CCGGGAGCCACGGGCTGGGAG	0.736																																																	0								ENSG00000168502						13	11	12					18																	8786056		2038	3905	5943	SOGA2	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000306329.11:c.2934C>T	18.37:g.8786056C>T		Somatic	0	47	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00		Missense_Mutation	SNP							pfam_SOGA	p.R473W	ENST00000306329.11	37	c.1417		18																																																																																			-	NULL		0.736	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	protein_coding	OTTHUMT00000444141.1	C		-		8786056	1	no_errors	ENST00000520495	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8786056	C	T	8786056	2	4	9	1	0	0	0	0	0	0	0	1	8196	535	19	1		1	KIAA0802	18	8786056	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		8786056	69291192	294	725											
CNDP2	55748	genome.wustl.edu	37	chr18	72187269	72187269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaccaagatgctggccgCgtacctgtatgaggtctccc	13	12	1	2	rs559463515		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr18:72187269C>T	ENST00000324262.4	+	12	1710	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	CNDP2_ENST00000579847.1_Missense_Mutation_p.A465V|CNDP2_ENST00000324301.8_Missense_Mutation_p.A381V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	465					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.A465V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGCTGGCCGCGTACCTGTAT	0.537																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000133313						119	94	102					18																	72187269		2203	4300	6503	CNDP2	SO:0001583	missense	0			-	HGNC	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1394C>T	18.37:g.72187269C>T	ENSP00000325548:p.Ala465Val	Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP							pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.A465V	ENST00000324262.4	37	c.1394	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188860	0.57909	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.048840	0.85682	D	0.000000	T	0.48484	0.1502	M	0.85462	2.755	0.80722	D	1	P;P	0.46064	0.523;0.872	B;B	0.29663	0.076;0.105	T	0.61207	-0.7109	10	0.40728	T	0.16	-24.1893	17.4447	0.87574	0.0:1.0:0.0:0.0	.	381;465	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	V	465;381	ENSP00000325548:A465V;ENSP00000325756:A381V	ENSP00000325548:A465V	A	+	2	0	CNDP2	70338249	1.000000	0.71417	0.275000	0.24674	0.244000	0.25665	7.329000	0.79170	2.548000	0.85928	0.650000	0.86243	GCG	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1		0.537	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	protein_coding	OTTHUMT00000256327.1	C	NM_018235	-		72187269	1	no_errors	ENST00000324262	ensembl	human	known	74_37	missense	SNP	0.998	T	T	72187269	C	T	72187269	3	4	9	1	0	0	0	0	1	0	0	0	3596	768	27	1	1436	1	CNDP2	18	72187269	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	63401213	72187269	5889979	295	726											
BSG	682	genome.wustl.edu	37	chr19	577972	577972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacctaccaccagcacgCggccagcaccatctccatcg	7	21	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:577972C>T	ENST00000333511.3	+	2	336	c.266C>T	c.(265-267)gCg>gTg	p.A89V	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	89					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CACCAGCACGCGGCCAGCACC	0.682																																																	0								ENSG00000172270						36	33	34					19																	577972		2199	4297	6496	BSG	SO:0001583	missense	0			-	HGNC	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.266C>T	19.37:g.577972C>T	ENSP00000333769:p.Ala89Val	Somatic	0	76	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A89V	ENST00000333511.3	37	c.266	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821364	0.71028	.	.	ENSG00000172270	ENST00000333511	T	0.02579	4.24	2.62	2.62	0.31277	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.430926	0.22431	U	0.060157	T	0.06917	0.0176	L	0.33668	1.02	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.47995	-0.9073	10	0.33940	T	0.23	-16.6854	12.016	0.53313	0.0:1.0:0.0:0.0	.	89	P35613	BASI_HUMAN	V	89	ENSP00000333769:A89V	ENSP00000333769:A89V	A	+	2	0	BSG	528972	0.993000	0.37304	0.952000	0.39060	0.940000	0.58332	2.959000	0.49153	1.151000	0.42436	0.462000	0.41574	GCG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.682	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	protein_coding	OTTHUMT00000438630.2	C	NM_001728	-		577972	1	no_errors	ENST00000333511	ensembl	human	known	74_37	missense	SNP	1.000	T	T	577972	C	T	577972	3	4	9	1	0	0	0	0	1	0	0	0	1531	768	27	1	308	1	BSG	19	577972	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		577972	58551011	296	727											
PTBP1	5725	genome.wustl.edu	37	chr19	803599	803600	+	Frame_Shift_Ins	INS	-	-	G													tctctacttgtgtcactaacINSggaccgtttatcatgagcag							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:803599_803600insG	ENST00000349038.4	+	3	151_152	c.78_79insG	c.(79-81)ggafs	p.G27fs	PTBP1_ENST00000356948.6_Frame_Shift_Ins_p.G27fs|PTBP1_ENST00000394601.4_Frame_Shift_Ins_p.G27fs|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	27					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		GTGTCACTAACGGACCGTTTAT	0.584																																																	0								ENSG00000011304																																			PTBP1	SO:0001589	frameshift_variant	0				HGNC	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.80dupG	19.37:g.803601_803601dupG	ENSP00000014112:p.Gly27fs	Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q9BUQ0	Frame_Shift_Ins	INS							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P27fs	ENST00000349038.4	37	c.78_79	CCDS32859.1	19																																																																																			-	NULL		0.584	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	protein_coding	OTTHUMT00000457605.1	-				803600	1	no_errors	ENST00000356948	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	G	G	803600	-	G	803599	7	5	9	1	0	1	1	0	0	0	0	0	12730	535	19	0	88	0	PTBP1	19	803599	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	225627	803599	58325384	297	728											
HMHA1	23526	genome.wustl.edu	37	chr19	1080305	1080305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacgtgagtgatgtggcGcggccggaggctgccgggag	19	9	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:1080305G>A	ENST00000313093.2	+	14	1986	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	HMHA1_ENST00000539243.2_Silent_p.A601A|HMHA1_ENST00000590577.1_Silent_p.A220A|HMHA1_ENST00000543365.1_Silent_p.A468A|HMHA1_ENST00000590214.1_Silent_p.A612A|HMHA1_ENST00000536472.1_Silent_p.A425A|HMHA1_ENST00000586866.1_Silent_p.A589A	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	585					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GTGATGTGGCGCGGCCGGAGG	0.677																																																	0								ENSG00000180448						48	55	53					19																	1080305		2203	4297	6500	HMHA1	SO:0001819	synonymous_variant	0			-	HGNC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1755G>A	19.37:g.1080305G>A		Somatic	0	44	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A585	ENST00000313093.2	37	c.1755	CCDS32863.1	19																																																																																			-	NULL		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	protein_coding	OTTHUMT00000458026.1	G		-		1080305	1	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	SNP	0.000	A	A	1080305	G	A	1080305	2	1	9	1	0	0	0	0	0	0	0	1	7242	1074	38	1		1	HMHA1	19	1080305	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	276706	1080305	58048678	298	729											
PCSK4	54760	genome.wustl.edu	37	chr19	1486915	1486915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtggaggcgcaggcttcGctgtaccagggcacgcggcc	18	12	0	0	rs146576658	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:1486915G>A	ENST00000300954.5	-	8	1066	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'Flank	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGCAGGCTTCGCTGTACCAGG	0.677																																																	0								ENSG00000115257	G		0,4406		0,0,2203	68	60	63		1005	1.6	1	19	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	PCSK4	NM_017573.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		335/756	1486915	2,13004	2203	4300	6503	PCSK4	SO:0001819	synonymous_variant	0			-	HGNC	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1005C>T	19.37:g.1486915G>A		Somatic	0	84	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	48	44.19		Nonsense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept	p.R331*	ENST00000300954.5	37	c.991	CCDS12069.2	19																																																																																			-	NULL		0.677	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	protein_coding	OTTHUMT00000449703.1	G	NM_017573	rs146576658		1486915	-1	no_errors	ENST00000588195	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	1486915	G	A	1486915	2	1	9	1	0	0	0	0	0	0	0	1	11604	1078	38	1		1	PCSK4	19	1486915	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	406610	1486915	57642068	299	730											
TICAM1	148022	genome.wustl.edu	37	chr19	4816506	4816506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcaggggtggcggctgCgggcaccccggccaagtggg	21	12	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:4816506C>T	ENST00000248244.5	-	2	2113	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	628	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGGCGGCTGCGGGCACCCCG	0.711																																																	0								ENSG00000127666						14	14	14					19																	4816506		2192	4280	6472	TICAM1	SO:0001819	synonymous_variant	0			-	HGNC	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1884G>A	19.37:g.4816506C>T		Somatic	0	38	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	33.33	B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP							superfamily_TIR_dom,pirsf_TICAM1	p.P628	ENST00000248244.5	37	c.1884	CCDS12136.1	19																																																																																			-	pirsf_TICAM1		0.711	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	protein_coding	OTTHUMT00000450435.1	C	NM_014261	-		4816506	-1	no_errors	ENST00000248244	ensembl	human	known	74_37	silent	SNP	0.000	T	T	4816506	C	T	4816506	2	4	9	1	0	0	0	0	0	0	0	1	15899	755	27	1		1	TICAM1	19	4816506	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	3329591	4816506	54312477	300	731											
PTPRS	5802	genome.wustl.edu	37	chr19	5206828	5206828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgaggtactccagtgccGcctggtaacagaactggtac	11	12	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:5206828G>A	ENST00000587303.1	-	37	5903	c.5804C>T	c.(5803-5805)gCg>gTg	p.A1935V	PTPRS_ENST00000592099.1_Missense_Mutation_p.A1488V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1915V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1936V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1897V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1897V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1935V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A1488V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1935	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTCCAGTGCCGCCTGGTAACA	0.622																																																	0								ENSG00000105426						147	124	132					19																	5206828		2203	4300	6503	PTPRS	SO:0001583	missense	0			-	HGNC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5804C>T	19.37:g.5206828G>A	ENSP00000467537:p.Ala1935Val	Somatic	0	54	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.A1936V	ENST00000587303.1	37	c.5807	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555103	0.86231	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	2.91	2.91	0.33838	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000004	D	0.86920	0.6049	L	0.43701	1.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.995;1.0	D;P;D;B;D	0.91635	0.991;0.647;0.999;0.432;0.999	D	0.88362	0.2988	10	0.87932	D	0	.	13.9299	0.63989	0.0:0.0:1.0:0.0	.	1517;1488;1492;1897;1935	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332	.;.;.;.;PTPRS_HUMAN	V	1936;1935;1935;1926;1915;1897;1517;1492;1488	ENSP00000361489:A1936V;ENSP00000349932:A1935V;ENSP00000262963:A1915V;ENSP00000269907:A1897V;ENSP00000327313:A1488V	ENSP00000262963:A1915V	A	-	2	0	PTPRS	5157828	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	8.901000	0.92560	1.482000	0.48325	0.471000	0.43371	GCG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	protein_coding	OTTHUMT00000450762.2	G		-		5206828	-1	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5206828	G	A	5206828	3	1	9	1	0	0	0	0	1	0	0	0	12819	1087	38	1	46	1	PTPRS	19	5206828	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	390322	5206828	53922155	301	732											
KEAP1	9817	genome.wustl.edu	37	chr19	10610476	10610476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgacctgcagtgtgacGtcacacagctgctggctgag	12	11	1	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:10610476G>A	ENST00000171111.5	-	2	781	c.234C>T	c.(232-234)gaC>gaT	p.D78D	KEAP1_ENST00000393623.2_Silent_p.D78D|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCAGTGTGACGTCACACAGCT	0.597																																																	0								ENSG00000079999						113	84	94					19																	10610476		2203	4300	6503	KEAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.234C>T	19.37:g.10610476G>A		Somatic	0	18	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D78	ENST00000171111.5	37	c.234	CCDS12239.1	19																																																																																			-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	protein_coding	OTTHUMT00000452000.1	G	NM_012289	-		10610476	-1	no_errors	ENST00000171111	ensembl	human	known	74_37	silent	SNP	1.000	A	A	10610476	G	A	10610476	2	1	9	1	0	0	0	0	0	0	0	1	8143	1136	40	1		1	KEAP1	19	10610476	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	5403648	10610476	48518507	302	733											
LPPR2	64748	genome.wustl.edu	37	chr19	11473210	11473210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgtgactctcgtgttcCgcgtgaagggctcccgcctg	13	13	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:11473210C>T	ENST00000251473.5	+	7	1061	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R204C	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTCGTGTTCCGCGTGAAGGG	0.657																																																	0								ENSG00000105520						95	82	86					19																	11473210		2203	4300	6503	DKFZP761J1410	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000251473.5:c.685C>T	19.37:g.11473210C>T	ENSP00000251473:p.Arg229Cys	Somatic	0	42	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	16	52.94		Missense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R204C	ENST00000251473.5	37	c.610	CCDS12258.1	19	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212731	0.58452	.	.	ENSG00000105520	ENST00000251473	T	0.47869	0.83	5.23	3.0	0.34707	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.049188	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42581	1.335	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64877	0.886;0.93	T	0.55244	-0.8171	10	0.44086	T	0.13	-30.2659	12.3005	0.54872	0.4125:0.5875:0.0:0.0	.	204;229	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	C	229	ENSP00000251473:R229C	ENSP00000251473:R229C	R	+	1	0	AC024575.1	11334210	0.100000	0.21855	1.000000	0.80357	0.998000	0.95712	0.932000	0.28884	1.194000	0.43101	0.561000	0.74099	CGC	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.657	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	protein_coding	OTTHUMT00000458779.1	C		-		11473210	1	no_errors	ENST00000591608	ensembl	human	known	74_37	missense	SNP	0.999	T	T	11473210	C	T	11473210	3	4	9	1	0	0	0	0	1	0	0	0	8927	652	23	1	703	1	LPPR2	19	11473210	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	862734	11473210	47655773	303	734											
ZNF563	147837	genome.wustl.edu	37	chr19	12430216	12430217	+	Frame_Shift_Ins	INS	-	-	A													catacgtaataaactgggccINSaaaaaaaagctttcccacac							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:12430216_12430217insA	ENST00000293725.5	-	4	827_828	c.622_623insT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAACTGGGCCAAAAAAAAGCT	0.391																																					GBM(39;623 795 5132 29510 31476)												0								ENSG00000188868																																			ZNF563	SO:0001589	frameshift_variant	0				HGNC	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.623dupT	19.37:g.12430224_12430224dupA	ENSP00000293725:p.Trp208fs	Somatic	1	138	0.72		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	118	11.28	B2R9E7|Q8NAT7	Frame_Shift_Ins	INS							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W208fs	ENST00000293725.5	37	c.623_622	CCDS12270.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.391	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	protein_coding	OTTHUMT00000344114.1	-	NM_145276			12430217	-1	no_errors	ENST00000293725	ensembl	human	known	74_37	frame_shift_ins	INS	0.001:0.004	A	A	12430217	-	A	12430216	7	5	9	1	0	1	1	0	0	0	0	0	18001	595	21	0	811	0	ZNF563	19	12430216	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	957006	12430216	46698767	304	735											
NWD1	284434	genome.wustl.edu	37	chr19	16860994	16860994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagctgcaaggaggaCgctgagcccggtgcacacag	16	12	0	1	rs371297297		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:16860994C>T	ENST00000552788.1	+	4	1541	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	NWD1_ENST00000339803.6_Missense_Mutation_p.T379M|NWD1_ENST00000524140.2_Missense_Mutation_p.T514M|NWD1_ENST00000379808.3_Missense_Mutation_p.T514M|NWD1_ENST00000523826.1_Missense_Mutation_p.T308M|NWD1_ENST00000549814.1_Missense_Mutation_p.T514M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	514	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAAGGAGGACGCTGAGCCCG	0.647																																																	0								ENSG00000188039	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	41	40	40		1541	2.8	0.1	19		40	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	514/1433	16860994	1,13005	2203	4300	6503	NWD1	SO:0001583	missense	0			-	HGNC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1541C>T	19.37:g.16860994C>T	ENSP00000447224:p.Thr514Met	Somatic	0	71	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	C9J021|Q68CT3	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T514M	ENST00000552788.1	37	c.1541		19	.	.	.	.	.	.	.	.	.	.	c	2.934	-0.220461	0.06061	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58797	0.32;0.37;0.32;0.31;0.37;0.36	5.04	2.82	0.32997	.	0.739047	0.12810	N	0.437285	T	0.40546	0.1121	L	0.49455	1.56	0.09310	N	0.999999	P;P;P	0.38280	0.491;0.625;0.487	B;B;B	0.27500	0.036;0.08;0.034	T	0.37079	-0.9721	10	0.41790	T	0.15	-9.9797	2.3502	0.04281	0.239:0.4991:0.1539:0.1081	.	514;514;379	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	379;514;514;514;308;514;379	ENSP00000428579:T514M;ENSP00000447548:T514M;ENSP00000369136:T514M;ENSP00000428955:T308M;ENSP00000447224:T514M;ENSP00000340159:T379M	ENSP00000340159:T379M	T	+	2	0	NWD1	16721994	0.344000	0.24827	0.118000	0.21660	0.017000	0.09413	0.901000	0.28445	1.113000	0.41760	0.549000	0.68633	ACG	-	superfamily_P-loop_NTPase		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	protein_coding	OTTHUMT00000403569.1	C	NM_001007525	-		16860994	1	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	SNP	0.187	T	T	16860994	C	T	16860994	3	4	9	1	0	0	0	0	1	0	0	0	10783	536	19	1	1142	1	NWD1	19	16860994	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	4430778	16860994	42267989	305	736											
COMP	1311	genome.wustl.edu	37	chr19	18895803	18895803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccacgtagaagctggagCtgtcctggtagccaaagatg	13	9	0	3			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:18895803C>T	ENST00000222271.2	-	16	1861	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N	COMP_ENST00000425807.1_Missense_Mutation_p.S553N|COMP_ENST00000542601.2_Missense_Mutation_p.S573N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	606	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAAGCTGGAGCTGTCCTGGTA	0.567																																																	0								ENSG00000105664						194	153	167					19																	18895803		2203	4300	6503	COMP	SO:0001583	missense	0			-	HGNC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1817G>A	19.37:g.18895803C>T	ENSP00000222271:p.Ser606Asn	Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S606N	ENST00000222271.2	37	c.1817	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759557	0.69763	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.91180	-2.8;-2.8;-2.8	4.19	3.13	0.36017	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.90137	0.6918	N	0.25201	0.72	0.80722	D	1	B;D	0.89917	0.142;1.0	B;D	0.87578	0.116;0.998	D	0.86835	0.2013	10	0.23302	T	0.38	-51.7315	12.5228	0.56069	0.0:0.8297:0.1703:0.0	.	553;606	B4DKJ3;P49747	.;COMP_HUMAN	N	573;606;553;593	ENSP00000439156:S573N;ENSP00000222271:S606N;ENSP00000403792:S553N	ENSP00000222271:S606N	S	-	2	0	COMP	18756803	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.604000	0.61112	0.941000	0.37499	0.484000	0.47621	AGC	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.567	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	protein_coding	OTTHUMT00000403457.1	C	NM_000095	-		18895803	-1	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18895803	C	T	18895803	3	4	9	1	0	0	0	0	1	0	0	0	3726	797	28	2	472	2	COMP	19	18895803	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2034809	18895803	40233180	306	737											
ARHGAP33	115703	genome.wustl.edu	37	chr19	36276164	36276164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgttctttgcactgggcCggggccccagtgtccctcga	13	14	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:36276164C>T	ENST00000007510.4	+	18	1939	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R463W|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R599W			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	599					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TGCACTGGGCCGGGGCCCCAG	0.677																																																	0								ENSG00000004777						30	39	36					19																	36276164		2198	4279	6477	ARHGAP33	SO:0001583	missense	0			-	HGNC	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1795C>T	19.37:g.36276164C>T	ENSP00000007510:p.Arg599Trp	Somatic	0	134	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	84	32.26	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R599W	ENST00000007510.4	37	c.1795		19	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724124	0.68959	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12255	3.02;2.7;3.06	4.34	3.25	0.37280	.	0.090419	0.42420	D	0.000720	T	0.24431	0.0592	L	0.39898	1.24	0.33816	D	0.628468	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.96;0.992;0.953	T	0.17992	-1.0351	10	0.87932	D	0	.	9.2736	0.37686	0.3838:0.6162:0.0:0.0	.	599;463;599	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	W	599;599;463	ENSP00000007510:R599W;ENSP00000320038:R599W;ENSP00000368227:R463W	ENSP00000007510:R599W	R	+	1	2	ARHGAP33	40968004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.279000	0.33191	2.269000	0.75478	0.462000	0.41574	CGG	-	NULL		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	protein_coding		C	NM_052948	-		36276164	1	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36276164	C	T	36276164	3	4	9	1	0	0	0	0	1	0	0	0	882	643	23	1	1865	1	ARHGAP33	19	36276164	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	17380361	36276164	22852819	307	738											
ZNF567	163081	genome.wustl.edu	37	chr19	37211253	37211253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaatgtgggaagtcctttCgccagaaagcaaccctcact	9	11	1	2	rs201636823		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:37211253C>T	ENST00000536254.2	+	6	1849	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	ZNF567_ENST00000585696.1_Missense_Mutation_p.R512C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.R512C|ZNF567_ENST00000392163.2_Missense_Mutation_p.R512C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R512C			Q8N184	ZN567_HUMAN	zinc finger protein 567	543					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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAAGTCCTTTCGCCAGAAAGC	0.408																																																	0								ENSG00000189042	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	60	62	61		1534	1.5	1	19		61	0,8600		0,0,4300	yes	missense	ZNF567	NM_152603.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	512/617	37211253	1,13005	2203	4300	6503	ZNF567	SO:0001583	missense	0			-	HGNC	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1627C>T	19.37:g.37211253C>T	ENSP00000441838:p.Arg543Cys	Somatic	0	30	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	B3KX49|Q6N044	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R543C	ENST00000536254.2	37	c.1627		19	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572021	0.28092	2.27E-4	0.0	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.84	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.329918	0.22348	N	0.061242	T	0.47266	0.1436	L	0.54965	1.715	0.30139	N	0.804097	D;D	0.89917	0.992;1.0	P;D	0.81914	0.744;0.995	T	0.39333	-0.9619	10	0.36615	T	0.2	.	7.1704	0.25715	0.3044:0.6108:0.0:0.0848	.	543;512	Q8N184;F8WEL6	ZN567_HUMAN;.	C	543;487;512;542;512	ENSP00000441838:R543C;ENSP00000353957:R512C;ENSP00000376003:R512C	ENSP00000353957:R512C	R	+	1	0	ZNF567	41903093	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.992000	0.03724	0.715000	0.32103	0.561000	0.74099	CGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	protein_coding	OTTHUMT00000453549.1	C	NM_152603	rs201636823		37211253	1	no_errors	ENST00000536254	ensembl	human	known	74_37	missense	SNP	0.055	T	T	37211253	C	T	37211253	3	4	9	1	0	0	0	0	1	0	0	0	18005	884	31	1	1544	1	ZNF567	19	37211253	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	935089	37211253	21917730	308	739											
ZNF526	116115	genome.wustl.edu	37	chr19	42730292	42730292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactactgcgggacttgtggCcgctggttccgcgccatggc	14	13	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:42730292C>T	ENST00000301215.3	+	3	1962	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGACTTGTGGCCGCTGGTTCC	0.657																																																	0								ENSG00000167625						41	43	42					19																	42730292		2203	4300	6503	ZNF526	SO:0001819	synonymous_variant	0			-	HGNC	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1737C>T	19.37:g.42730292C>T		Somatic	0	63	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B3KV29|Q69YI2|Q96E24	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G579	ENST00000301215.3	37	c.1737	CCDS12598.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	protein_coding	OTTHUMT00000463681.2	C	XM_057401	-		42730292	1	no_errors	ENST00000301215	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42730292	C	T	42730292	2	4	9	1	0	0	0	0	0	0	0	1	17974	726	26	2		2	ZNF526	19	42730292	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5519039	42730292	16398691	309	740											
ERF	2077	genome.wustl.edu	37	chr19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-													tgaaggagaagtgggagcctCcccctgagccgctgggcccc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:42753368delC	ENST00000222329.4	-	4	1053	c.896delG	c.(895-897)ggafs	p.G300fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Frame_Shift_Del_p.G225fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	300					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677																																																	0								ENSG00000105722						36	40	39					19																	42753368		2201	4297	6498	ERF	SO:0001589	frameshift_variant	0				HGNC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.896delG	19.37:g.42753368delC	ENSP00000222329:p.Gly300fs	Somatic	0	52	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G299fs	ENST00000222329.4	37	c.896	CCDS12600.1	19																																																																																			-	NULL		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	protein_coding	OTTHUMT00000463684.1	C	NM_006494			42753368	-1	no_errors	ENST00000222329	ensembl	human	known	74_37	frame_shift_del	DEL	0.941	-	-	42753368	C	-	42753368	7	5	9	1	0	1	0	1	0	0	0	0	5223	855	30	0	754	0	ERF	19	42753368	Frame_Shift_Del	DEL	C	TCGA-3B-A9HT-01A-11D-A38Z-09	23076	42753368	16375615	310	741											
ZNF235	9310	genome.wustl.edu	37	chr19	44791889	44791889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCggtgtggactctctgatgat	11	8	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:44791889C>T	ENST00000291182.4	-	5	1801	c.1699G>A	c.(1699-1701)Gga>Aga	p.G567R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	567					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGTTTCTCTCCGGTGTGGACT	0.458																																																	0								ENSG00000159917						79	78	78					19																	44791889		2203	4300	6503	ZNF235	SO:0001583	missense	0			-	HGNC	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1699G>A	19.37:g.44791889C>T	ENSP00000291182:p.Gly567Arg	Somatic	0	19	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G567R	ENST00000291182.4	37	c.1699	CCDS33048.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457787	0.84317	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.26223	1.75	5.04	5.04	0.67666	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000800	T	0.42063	0.1186	L	0.35249	1.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.32693	-0.9897	10	0.66056	D	0.02	.	17.5055	0.87743	0.0:1.0:0.0:0.0	.	563;567	Q14590-2;Q14590	.;ZN235_HUMAN	R	567;567;459	ENSP00000291182:G567R	ENSP00000291182:G567R	G	-	1	0	ZNF235	49483729	0.061000	0.20836	0.533000	0.28001	0.950000	0.60333	1.475000	0.35409	2.502000	0.84385	0.462000	0.41574	GGA	-	pfscan_Znf_C2H2		0.458	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF235	protein_coding	OTTHUMT00000460732.1	C		-		44791889	-1	no_errors	ENST00000291182	ensembl	human	known	74_37	missense	SNP	0.999	T	T	44791889	C	T	44791889	3	4	9	1	0	0	0	0	1	0	0	0	17795	661	23	1	521	1	ZNF235	19	44791889	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	2038521	44791889	14337094	311	742											
GRWD1	83743	genome.wustl.edu	37	chr19	48956136	48956136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacgtggaggccgaccccGgactggccgacctcccgcag	15	17	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:48956136G>A	ENST00000253237.5	+	7	1428	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	399						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)		GGCCGACCCCGGACTGGCCGA	0.697																																																	0								ENSG00000105447						32	32	32					19																	48956136		2200	4299	6499	GRWD1	SO:0001583	missense	0			-	HGNC	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.1195G>A	19.37:g.48956136G>A	ENSP00000253237:p.Gly399Arg	Somatic	0	18	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	Q8TF59	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G399R	ENST00000253237.5	37	c.1195	CCDS12720.1	19	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407544	0.25378	.	.	ENSG00000105447	ENST00000253237	T	0.68624	-0.34	5.2	4.1	0.47936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.555807	0.17749	N	0.163300	T	0.63815	0.2543	M	0.61703	1.905	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.53899	-0.8373	10	0.33141	T	0.24	.	15.4308	0.75099	0.0:0.1392:0.8607:0.0	.	399	Q9BQ67	GRWD1_HUMAN	R	399	ENSP00000253237:G399R	ENSP00000253237:G399R	G	+	1	0	GRWD1	53647948	0.998000	0.40836	0.264000	0.24511	0.192000	0.23643	6.517000	0.73759	2.599000	0.87857	0.561000	0.74099	GGA	-	superfamily_WD40_repeat_dom		0.697	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRWD1	protein_coding	OTTHUMT00000466122.1	G	NM_031485	-		48956136	1	no_errors	ENST00000253237	ensembl	human	known	74_37	missense	SNP	0.127	A	A	48956136	G	A	48956136	3	1	9	1	0	0	0	0	1	0	0	0	6813	1117	39	1	1221	1	GRWD1	19	48956136	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4164247	48956136	10172847	312	743											
SPHK2	56848	genome.wustl.edu	37	chr19	49132438	49132438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctggctggggactgggGtggggctggggatgctccgc	22	8	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:49132438G>A	ENST00000245222.4	+	7	1739	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	SPHK2_ENST00000599029.1_Missense_Mutation_p.G422D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G458D|SPHK2_ENST00000443164.1_Missense_Mutation_p.G520D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G422D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G399D|SPHK2_ENST00000340932.3_Missense_Mutation_p.G420D	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	458					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGACTGGGGTGGGGCTGGG	0.701																																																	0								ENSG00000063176						37	47	43					19																	49132438		2200	4298	6498	SPHK2	SO:0001583	missense	0			-	HGNC	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1373G>A	19.37:g.49132438G>A	ENSP00000245222:p.Gly458Asp	Somatic	0	78	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	71	8.97	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G520D	ENST00000245222.4	37	c.1559	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	g	9.234	1.036531	0.19669	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.29142	2.13;1.75;1.58	4.55	2.33	0.28932	.	0.543906	0.17541	N	0.170524	T	0.12390	0.0301	N	0.08118	0	0.24440	N	0.994537	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.11329	0.001;0.006;0.002	T	0.30297	-0.9983	10	0.13470	T	0.59	-31.7295	5.5033	0.16840	0.186:0.1662:0.6478:0.0	.	399;520;458	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	D	458;431;420;520	ENSP00000245222:G458D;ENSP00000341091:G420D;ENSP00000413369:G520D	ENSP00000245222:G458D	G	+	2	0	SPHK2	53824250	.	.	0.859000	0.33776	0.997000	0.91878	.	.	0.596000	0.29794	0.651000	0.88453	GGT	-	NULL		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	protein_coding	OTTHUMT00000466153.1	G		-		49132438	1	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	SNP	0.863	A	A	49132438	G	A	49132438	3	1	9	1	0	0	0	0	1	0	0	0	15054	1261	44	2	1395	2	SPHK2	19	49132438	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	176302	49132438	9996545	313	744											
TGM6	343641	genome.wustl.edu	37	chr20	2384053	2384053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggcaggaatttccatGtctggaatgagagctggttt	13	6	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:2384053G>T	ENST00000202625.2	+	8	1061	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	TGM6_ENST00000381423.1_Missense_Mutation_p.V334F	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	334					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAATTTCCATGTCTGGAATGA	0.582																																																	0								ENSG00000166948						43	38	40					20																	2384053		2203	4300	6503	TGM6	SO:0001583	missense	0			-	HGNC	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.1000G>T	20.37:g.2384053G>T	ENSP00000202625:p.Val334Phe	Somatic	0	55	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V334F	ENST00000202625.2	37	c.1000	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777785	0.70107	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.96300	-3.97;-3.97	4.9	4.9	0.64082	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	H	0.94886	3.595	0.40578	D	0.981361	D;D	0.76494	0.999;0.998	D;D	0.74023	0.974;0.982	D	0.99667	1.0995	10	0.62326	D	0.03	-36.5413	16.0187	0.80464	0.0:0.0:1.0:0.0	.	334;334	O95932-2;O95932	.;TGM3L_HUMAN	F	334	ENSP00000202625:V334F;ENSP00000370831:V334F	ENSP00000202625:V334F	V	+	1	0	TGM6	2332053	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.652000	0.54439	2.735000	0.93741	0.549000	0.68633	GTC	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.582	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	protein_coding	OTTHUMT00000077581.2	G	NM_198994	-		2384053	1	no_errors	ENST00000202625	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2384053	G	T	2384053	3	4	9	1	0	0	0	0	1	0	0	0	15841	1377	48	3	1030	3	TGM6	20	2384053	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09		2384053	60641467	314	745											
RALGAPA2	57186	genome.wustl.edu	37	chr20	20563753	20563753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacgggcatcagcatcaGccacaacatctgtgggagta	11	10	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:20563753G>A	ENST00000202677.7	-	20	2655	c.2648C>T	c.(2647-2649)gCt>gTt	p.A883V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	883					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						ATCAGCATCAGCCACAACATC	0.483																																																	0								ENSG00000188559						86	85	85					20																	20563753		1983	4175	6158	RALGAPA2	SO:0001583	missense	0			-	HGNC	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.2648C>T	20.37:g.20563753G>A	ENSP00000202677:p.Ala883Val	Somatic	0	49	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	33	44.07	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP							pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.A883V	ENST00000202677.7	37	c.2648	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	G	10.31	1.316148	0.23908	.	.	ENSG00000188559	ENST00000202677	T	0.69175	-0.38	5.8	2.48	0.30137	.	0.571981	0.19556	N	0.111447	T	0.31327	0.0793	N	0.03115	-0.41	0.31987	N	0.605077	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.37478	-0.9704	10	0.02654	T	1	.	3.9649	0.09426	0.2813:0.3509:0.3678:0.0	.	721;883	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	V	883	ENSP00000202677:A883V	ENSP00000202677:A883V	A	-	2	0	RALGAPA2	20511753	0.006000	0.16342	1.000000	0.80357	0.634000	0.38068	0.316000	0.19469	1.459000	0.47892	0.655000	0.94253	GCT	-	NULL		0.483	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	protein_coding	OTTHUMT00000471941.1	G	NM_020343	-		20563753	-1	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	SNP	0.998	A	A	20563753	G	A	20563753	3	1	9	1	0	0	0	0	1	0	0	0	13022	971	34	2	3053	2	RALGAPA2	20	20563753	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	18179700	20563753	42461767	315	746											
ZNF341	84905	genome.wustl.edu	37	chr20	32378993	32378994	+	Frame_Shift_Ins	INS	-	-	C													aggacctgcaaacccggcggINScccccccagaggagggcagc							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:32378993_32378994insC	ENST00000375200.1	+	15	2600_2601	c.2235_2236insC	c.(2236-2238)cccfs	p.P746fs	RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Frame_Shift_Ins_p.P739fs|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	746					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AAACCCGGCGGCCCCCCCAGAG	0.668																																																	0								ENSG00000131061			11,4169		0,11,2079						-1.4	1			22	12,8070		0,12,4029	no	frameshift	ZNF341	NM_032819.3		0,23,6108	A1A1,A1R,RR		0.1485,0.2632,0.1876				23,12239				ZNF341	SO:0001589	frameshift_variant	0				HGNC	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2242dupC	20.37:g.32379000_32379000dupC	ENSP00000364346:p.Pro746fs	Somatic	0	31	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Frame_Shift_Ins	INS							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q747fs	ENST00000375200.1	37	c.2235_2236		20																																																																																			-	NULL		0.668	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	protein_coding		-				32378994	1	no_errors	ENST00000375200	ensembl	human	known	74_37	frame_shift_ins	INS	0.964:0.979	C	C	32378994	-	C	32378993	7	5	9	1	0	1	1	0	0	0	0	0	17864	1190	42	0	2272	0	ZNF341	20	32378993	Frame_Shift_Ins	INS	-	TCGA-3B-A9HT-01A-11D-A38Z-09	11815240	32378993	30646527	316	747											
EIF2S2	8894	genome.wustl.edu	37	chr20	32686422	32686422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagttggttcttgaacatcActttcaatcttaagatccta	5	9	5	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:32686422A>G	ENST00000374980.2	-	4	536	c.315T>C	c.(313-315)agT>agC	p.S105S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTTGAACATCACTTTCAATCT	0.328																																																	0								ENSG00000125977						72	70	71					20																	32686422		2203	4300	6503	EIF2S2	SO:0001819	synonymous_variant	0			-	HGNC	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.315T>C	20.37:g.32686422A>G		Somatic	0	128	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	85	22.02	Q9BVU0|Q9UJE4	Silent	SNP							pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5	p.S105	ENST00000374980.2	37	c.315	CCDS13231.1	20																																																																																			-	NULL		0.328	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S2	protein_coding	OTTHUMT00000078765.2	A	NM_003908	-		32686422	-1	no_errors	ENST00000374980	ensembl	human	known	74_37	silent	SNP	1.000	G	G	32686422	A	G	32686422	2	3	9	1	0	0	0	0	0	0	0	1	5012	156	6	5		5	EIF2S2	20	32686422	Silent	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	307429	32686422	30339098	317	748											
EDEM2	55741	genome.wustl.edu	37	chr20	33703483	33703483	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatcaagtcctccaccTcccactgctcttccttcagc	3	21	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:33703483T>A	ENST00000374492.3	-	11	1595	c.1490A>T	c.(1489-1491)gAg>gTg	p.E497V	EDEM2_ENST00000541621.1_Missense_Mutation_p.E276V|EDEM2_ENST00000374491.3_Missense_Mutation_p.E460V|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000542871.1_Missense_Mutation_p.E221V	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	497					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCCTCCACCTCCCACTGCTC	0.562																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0								ENSG00000088298						117	115	116					20																	33703483		2203	4300	6503	EDEM2	SO:0001583	missense	0			-	HGNC	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1490A>T	20.37:g.33703483T>A	ENSP00000363616:p.Glu497Val	Somatic	0	46	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E497V	ENST00000374492.3	37	c.1490	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579229	0.86645	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871	T;T;T;T	0.61859	0.07;0.08;1.64;1.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.34521	1.04	0.80722	D	1	P;D;P	0.53151	0.928;0.958;0.93	P;P;B	0.54174	0.744;0.58;0.376	T	0.63510	-0.6621	10	0.59425	D	0.04	-19.5349	15.794	0.78394	0.0:0.0:0.0:1.0	.	276;460;497	G3V1Q0;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	V	460;497;276;221	ENSP00000363615:E460V;ENSP00000363616:E497V;ENSP00000443528:E276V;ENSP00000441642:E221V	ENSP00000363615:E460V	E	-	2	0	EDEM2	33167144	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.868000	0.87116	2.317000	0.78254	0.459000	0.35465	GAG	-	NULL		0.562	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	protein_coding	OTTHUMT00000078842.2	T	NM_018217	-		33703483	-1	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33703483	T	A	33703483	3	1	9	1	0	0	0	0	1	0	0	0	4914	1551	54	5	250	5	EDEM2	20	33703483	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09	1017061	33703483	29322037	318	749											
ZNF335	63925	genome.wustl.edu	37	chr20	44596975	44596975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtggtctcggccccgccatCctcagcactggtcacagtga	11	15	3	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:44596975C>A	ENST00000322927.2	-	4	569	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	157					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCCCCGCCATCCTCAGCACTG	0.657																																																	0								ENSG00000198026						133	117	123					20																	44596975		2203	4300	6503	ZNF335	SO:0001583	missense	0			-	HGNC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.469G>T	20.37:g.44596975C>A	ENSP00000325326:p.Asp157Tyr	Somatic	0	25	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D157Y	ENST00000322927.2	37	c.469	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873932	0.51695	.	.	ENSG00000198026	ENST00000322927	T	0.11930	2.73	4.7	3.75	0.43078	.	0.184296	0.46145	D	0.000302	T	0.08447	0.0210	N	0.19112	0.55	0.80722	D	1	B	0.34103	0.437	B	0.29176	0.099	T	0.20371	-1.0277	10	0.62326	D	0.03	-1.1903	10.0024	0.41938	0.0:0.7838:0.1378:0.0784	.	157	Q9H4Z2	ZN335_HUMAN	Y	157	ENSP00000325326:D157Y	ENSP00000325326:D157Y	D	-	1	0	ZNF335	44030382	1.000000	0.71417	0.925000	0.36789	0.984000	0.73092	4.173000	0.58249	1.329000	0.45376	0.561000	0.74099	GAT	-	NULL		0.657	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	C	NM_022095	-		44596975	-1	no_errors	ENST00000322927	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44596975	C	A	44596975	3	1	9	1	0	0	0	0	1	0	0	0	17859	855	30	3	3659	3	ZNF335	20	44596975	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	10893492	44596975	18428545	319	750											
NCOA5	57727	genome.wustl.edu	37	chr20	44698964	44698964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtctctaagatccctcaCgtcccgaacgtcgcgcacac	7	16	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:44698964C>T	ENST00000290231.6	-	3	414	c.250G>A	c.(250-252)Gtg>Atg	p.V84M		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCTCACGTCCCGAACG	0.532																																																	0								ENSG00000124160						133	125	128					20																	44698964		2203	4300	6503	NCOA5	SO:0001583	missense	0			-	HGNC		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.250G>A	20.37:g.44698964C>T	ENSP00000290231:p.Val84Met	Somatic	0	34	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP							superfamily_Anticodon-bd	p.V84M	ENST00000290231.6	37	c.250	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709469	0.30322	.	.	ENSG00000124160	ENST00000290231	T	0.47528	0.84	4.97	1.3	0.21679	.	0.329786	0.32002	N	0.006730	T	0.22781	0.0550	N	0.08118	0	0.19575	N	0.999969	B	0.06786	0.001	B	0.01281	0.0	T	0.13980	-1.0489	10	0.30078	T	0.28	-0.1234	7.3092	0.26465	0.0:0.0794:0.4236:0.497	.	84	Q9HCD5	NCOA5_HUMAN	M	84	ENSP00000290231:V84M	ENSP00000290231:V84M	V	-	1	0	NCOA5	44132371	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.283000	0.18846	0.048000	0.15891	-0.247000	0.11927	GTG	-	NULL		0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	protein_coding	OTTHUMT00000079559.1	C	NM_020967	-		44698964	-1	no_errors	ENST00000290231	ensembl	human	known	74_37	missense	SNP	0.999	T	T	44698964	C	T	44698964	3	4	9	1	0	0	0	0	1	0	0	0	10234	536	19	1	1513	1	NCOA5	20	44698964	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	101989	44698964	18326556	320	751											
LAMA5	3911	genome.wustl.edu	37	chr20	60891033	60891033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagcatggcctgcgccGcctggatgtgcgcctccagc	14	15	0	0	rs370074478	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:60891033G>A	ENST00000252999.3	-	58	7904	c.7838C>T	c.(7837-7839)gCg>gTg	p.A2613V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	Domain II and I.				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)			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)			GGCCTGCGCCGCCTGGATGTG	0.692													.|||	2	0.000399361	0.0015	0	5008	,	,		18006	0		0	False		,,,				2504	0																0								ENSG00000130702		VAL/ALA	1,4369	2.1+/-5.4	0,1,2184	24	23	24		7838	-1.5	0	20		24	0,8564		0,0,4282	no	missense	LAMA5	NM_005560.3	64	0,1,6466	AA,AG,GG		0.0,0.0229,0.0077	benign	2613/3696	60891033	1,12933	2185	4282	6467	LAMA5	SO:0001583	missense	0			-	HGNC	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.7838C>T	20.37:g.60891033G>A	ENSP00000252999:p.Ala2613Val	Somatic	0	71	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	57	38.71	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A2613V	ENST00000252999.3	37	c.7838	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	11.40	1.627951	0.28978	2.29E-4	0.0	ENSG00000130702	ENST00000252999	T	0.19532	2.14	4.24	-1.47	0.08772	.	0.752565	0.11809	U	0.527370	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B	0.31040	0.305	B	0.16289	0.015	T	0.32241	-0.9914	10	0.25751	T	0.34	.	3.9864	0.09517	0.0:0.246:0.4027:0.3512	.	2613	O15230	LAMA5_HUMAN	V	2613	ENSP00000252999:A2613V	ENSP00000252999:A2613V	A	-	2	0	LAMA5	60324428	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	0.048000	0.14078	0.074000	0.16767	-0.742000	0.03525	GCG	-	NULL		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	G	NM_005560	-		60891033	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	SNP	0.000	A	A	60891033	G	A	60891033	3	1	9	1	0	0	0	0	1	0	0	0	8611	1087	38	1	3341	1	LAMA5	20	60891033	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	16192069	60891033	2134487	321	752											
RTEL1	51750	genome.wustl.edu	37	chr20	62294213	62294213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaagaaggtggcaagtcGctcctgtcatttctacaaca	9	11	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:62294213G>A	ENST00000360203.5	+	6	834	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RTEL1_ENST00000370018.3_Missense_Mutation_p.R170H|RTEL1_ENST00000508582.2_Missense_Mutation_p.R194H|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R170H|RTEL1_ENST00000318100.4_Missense_Mutation_p.R170H					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGGCAAGTCGCTCCTGTCAT	0.592																																																	0								ENSG00000258366						94	81	86					20																	62294213		2203	4300	6503	RTEL1	SO:0001583	missense	0			-	HGNC	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.509G>A	20.37:g.62294213G>A	ENSP00000353332:p.Arg170His	Somatic	0	20	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46		Missense_Mutation	SNP							pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R170H	ENST00000360203.5	37	c.509		20	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741886	0.69304	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.05	4.09	0.47781	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.055025	0.64402	D	0.000001	T	0.61837	0.2379	L	0.39245	1.2	0.54753	D	0.99998	B;B;B;B	0.30439	0.067;0.154;0.279;0.237	B;B;B;B	0.31245	0.063;0.082;0.126;0.063	T	0.63037	-0.6726	10	0.42905	T	0.14	-31.3301	13.2283	0.59927	0.0775:0.0:0.9225:0.0	.	194;194;170;170	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	H	170;170;194;170;220	ENSP00000359035:R170H;ENSP00000322287:R170H;ENSP00000424307:R194H;ENSP00000353332:R170H;ENSP00000349265:R220H	ENSP00000349265:R220H	R	+	2	0	AL353715.1	61764657	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	4.664000	0.61540	2.518000	0.84900	0.511000	0.50034	CGC	-	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.592	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	protein_coding	OTTHUMT00000289781.1	G	NM_032957	-		62294213	1	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62294213	G	A	62294213	3	1	9	1	0	0	0	0	1	0	0	0	13728	1087	38	1	527	1	RTEL1	20	62294213	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	1403180	62294213	731307	322	753											
SFRS15	57466	genome.wustl.edu	37	chr21	33073423	33073423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgagccatcacagcaTtgtcaagggcaggagactgt	12	10	2	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr21:33073423T>C	ENST00000286835.7	-	7	1044	c.662A>G	c.(661-663)aAt>aGt	p.N221S	SCAF4_ENST00000434667.3_Missense_Mutation_p.N206S|SCAF4_ENST00000399804.1_Missense_Mutation_p.N221S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	221						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATCACAGCATTGTCAAGGGC	0.443																																																	0								ENSG00000156304						131	127	129					21																	33073423		2203	4300	6503	SCAF4	SO:0001583	missense	0			-	HGNC	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.662A>G	21.37:g.33073423T>C	ENSP00000286835:p.Asn221Ser	Somatic	0	94	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	73	29.81	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP							pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.N221S	ENST00000286835.7	37	c.662	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223473	0.39300	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.44881	0.95;0.91;0.92	6.07	3.77	0.43336	.	0.332568	0.34133	N	0.004227	T	0.18087	0.0434	N	0.04880	-0.145	0.32211	N	0.57653	B;B;B;B	0.16166	0.001;0.016;0.003;0.001	B;B;B;B	0.13407	0.004;0.007;0.009;0.002	T	0.21895	-1.0232	10	0.07175	T	0.84	-14.3228	9.4467	0.38701	0.0:0.1434:0.0:0.8566	.	206;221;221;221	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	206;221;221	ENSP00000402377:N206S;ENSP00000286835:N221S;ENSP00000382703:N221S	ENSP00000286835:N221S	N	-	2	0	SCAF4	31995294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.810000	0.47979	1.131000	0.42111	0.533000	0.62120	AAT	-	NULL		0.443	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	protein_coding	OTTHUMT00000192659.1	T	XM_047889	-		33073423	-1	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33073423	T	C	33073423	3	2	9	1	0	0	0	0	1	0	0	0	14179	1493	52	5	2837	5	SFRS15	21	33073423	Missense_Mutation	SNP	T	TCGA-3B-A9HT-01A-11D-A38Z-09		33073423	15056472	323	754											
CDC45	8318	genome.wustl.edu	37	chr22	19481886	19481886	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcggaggaggcagcggCgagagtgggaggcccggagg	22	9	0	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:19481886C>T	ENST00000407835.1	+	7	779	c.523C>T	c.(523-525)Cga>Tga	p.R175*	CDC45_ENST00000404724.3_Nonsense_Mutation_p.R129*|CDC45_ENST00000437685.2_Nonsense_Mutation_p.R175*|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Nonsense_Mutation_p.R175*			O75419	CDC45_HUMAN	cell division cycle 45	175					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|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)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAGGCAGCGGCGAGAGTGGGA	0.582																																																	0								ENSG00000093009						77	77	77					22																	19481886		2203	4300	6503	CDC45	SO:0001587	stop_gained	0			-	HGNC	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.523C>T	22.37:g.19481886C>T	ENSP00000385240:p.Arg175*	Somatic	0	43	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Nonsense_Mutation	SNP							pfam_CDC45	p.R175*	ENST00000407835.1	37	c.523	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214412	0.09810	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	.	.	.	4.7	2.54	0.30619	.	0.205916	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3185	10.8178	0.46587	0.4357:0.5643:0.0:0.0	.	.	.	.	X	175;175;175;129	.	ENSP00000263201:R175X	R	+	1	2	CDC45	17861886	0.820000	0.29190	0.762000	0.31397	0.123000	0.20343	1.618000	0.36954	0.305000	0.22832	-0.457000	0.05445	CGA	-	pfam_CDC45		0.582	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	protein_coding	OTTHUMT00000317903.1	C	NM_003504	-		19481886	1	no_errors	ENST00000437685	ensembl	human	known	74_37	nonsense	SNP	0.882	T	T	19481886	C	T	19481886	4	4	9	1	0	0	0	0	0	1	0	0	3083	760	27	1	545	1	CDC45	22	19481886	Nonsense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09		19481886	31822680	324	755											
SEPT5	5413	genome.wustl.edu	37	chr22	19707184	19707184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgcaccgcaagtcGgtgaagaaaggctttgactt	12	9	0	3	rs142143618	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:19707184G>A	ENST00000455784.2	+	3	239	c.114G>A	c.(112-114)tcG>tcA	p.S38S	SEPT5_ENST00000383045.3_Silent_p.S47S|SEPT5_ENST00000406395.1_Silent_p.S38S|SEPT5_ENST00000438754.2_Silent_p.S47S	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	38					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACCGCAAGTCGGTGAAGAAAG	0.592																																																	0								ENSG00000184702	G	,	0,4406		0,0,2203	72	63	66		141,114	-7.5	0	22	dbSNP_134	66	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	SEPT5	NM_001009939.2,NM_002688.5	,	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,	47/347,38/370	19707184	6,13000	2203	4300	6503	SEPT5	SO:0001819	synonymous_variant	0			-	HGNC	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.114G>A	22.37:g.19707184G>A		Somatic	0	53	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O15251|Q96MY5	Silent	SNP							pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.S47	ENST00000455784.2	37	c.141	CCDS13764.1	22																																																																																			-	pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin		0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	protein_coding	OTTHUMT00000317937.1	G	NM_002688	rs142143618		19707184	1	no_errors	ENST00000383045	ensembl	human	known	74_37	silent	SNP	0.003	A	A	19707184	G	A	19707184	2	1	9	1	0	0	0	0	0	0	0	1	14075	1103	39	1		1	SEPT5	22	19707184	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	225298	19707184	31597382	325	756											
SEZ6L	23544	genome.wustl.edu	37	chr22	26688805	26688805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaccccatcgtggcctcCgaggaggcatcagaagtgcc	13	15	1	1	rs371054914		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:26688805C>T	ENST00000248933.6	+	2	623	c.528C>T	c.(526-528)tcC>tcT	p.S176S	SEZ6L_ENST00000404234.3_Silent_p.S176S|SEZ6L_ENST00000343706.4_Silent_p.S176S|SEZ6L_ENST00000529632.2_Silent_p.S176S|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.S176S|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	176	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCGTGGCCTCCGAGGAGGCAT	0.657																																																	0								ENSG00000100095	C	,,,,,	0,4406		0,0,2203	41	43	42		528,528,528,528,528,528	-7.1	0	22		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	176/1024,176/1014,176/1012,176/950,176/949,176/1025	26688805	1,13005	2203	4300	6503	SEZ6L	SO:0001819	synonymous_variant	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.528C>T	22.37:g.26688805C>T		Somatic	0	91	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.71	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S176	ENST00000248933.6	37	c.528	CCDS13833.1	22																																																																																			-	NULL		0.657	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		-		26688805	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	SNP	0.000	T	T	26688805	C	T	26688805	2	4	9	1	0	0	0	0	0	0	0	1	14151	639	23	1		1	SEZ6L	22	26688805	Silent	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6981621	26688805	24615761	326	757											
SYN3	8224	genome.wustl.edu	37	chr22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagacttcctcaggttgCggatggtttcagccttggcc	11	11	2	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:32909719C>T	ENST00000358763.2	-	14	1945	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_ENST00000332840.5_Missense_Mutation_p.R568H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	568	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R568H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000185666						160	115	130					22																	32909719		2203	4300	6503	SYN3	SO:0001583	missense	0			-	HGNC	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1703G>A	22.37:g.32909719C>T	ENSP00000351614:p.Arg568His	Somatic	0	29	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	B1B1F9	Missense_Mutation	SNP							pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin	p.R568H	ENST00000358763.2	37	c.1703	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.518069	0.96416	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.53640	0.61;0.61	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72141	-0.4380	10	0.87932	D	0	-4.6075	19.5608	0.95371	0.0:1.0:0.0:0.0	.	567;568	Q17R54;O14994	.;SYN3_HUMAN	H	568;568;174	ENSP00000351614:R568H;ENSP00000330219:R568H	ENSP00000330219:R568H	R	-	2	0	SYN3	31239719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	CGC	-	NULL		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	protein_coding	OTTHUMT00000075892.4	C		-		32909719	-1	no_errors	ENST00000332840	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32909719	C	T	32909719	3	4	9	1	0	0	0	0	1	0	0	0	15449	768	27	1	43	1	SYN3	22	32909719	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	6220914	32909719	18394847	327	758											
MYH9	4627	genome.wustl.edu	37	chr22	36689835	36689835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgggactccagcgcGgagaagtccttggtgagctt	15	10	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:36689835G>A	ENST00000216181.5	-	29	4142	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1304					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTCCAGCGCGGAGAAGTCCT	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								ENSG00000100345						57	53	54					22																	36689835		2203	4300	6503	MYH9	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3912C>T	22.37:g.36689835G>A		Somatic	0	58	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1304	ENST00000216181.5	37	c.3912	CCDS13927.1	22																																																																																			-	pfam_Myosin_tail		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	G	NM_002473	-		36689835	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	SNP	0.000	A	A	36689835	G	A	36689835	2	1	9	1	0	0	0	0	0	0	0	1	10044	1103	39	1		1	MYH9	22	36689835	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3780116	36689835	14614731	328	759											
FBLN1	2192	genome.wustl.edu	37	chr22	45938049	45938049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagatgtggacgagtgcGcgccacctgctgagccctgt	14	12	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:45938049G>A	ENST00000327858.6	+	10	1176	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	FBLN1_ENST00000442170.2_Missense_Mutation_p.A361T|FBLN1_ENST00000348697.2_Missense_Mutation_p.A361T|FBLN1_ENST00000402984.3_Missense_Mutation_p.A399T|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.A361T|FBLN1_ENST00000340923.5_Missense_Mutation_p.A361T	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	361	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGACGAGTGCGCGCCACCTGC	0.512																																																	0								ENSG00000077942						109	113	111					22																	45938049		2203	4300	6503	FBLN1	SO:0001583	missense	0			-	HGNC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1081G>A	22.37:g.45938049G>A	ENSP00000331544:p.Ala361Thr	Somatic	0	36	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	40	28.57	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.A361T	ENST00000327858.6	37	c.1081	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705166	0.30232	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.16	-10.3	0.00346	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.582643	0.19472	N	0.113432	D	0.87877	0.6288	L	0.53617	1.68	0.09310	N	1	D;P;P;P	0.56035	0.974;0.943;0.905;0.811	P;P;B;B	0.47251	0.542;0.489;0.269;0.31	T	0.82335	-0.0508	10	0.17832	T	0.49	.	17.0851	0.86609	0.0854:0.0:0.718:0.1966	.	399;361;361;361	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	T	361;399;361;361;361;361	ENSP00000262723:A361T;ENSP00000385521:A399T;ENSP00000262722:A361T;ENSP00000331544:A361T;ENSP00000393812:A361T;ENSP00000342212:A361T	ENSP00000262722:A361T	A	+	1	0	FBLN1	44316713	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.012000	0.03649	-2.446000	0.00546	-0.274000	0.10170	GCG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom		0.512	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	protein_coding	OTTHUMT00000322287.1	G	NM_006486	-		45938049	1	no_errors	ENST00000327858	ensembl	human	known	74_37	missense	SNP	0.000	A	A	45938049	G	A	45938049	3	1	9	1	0	0	0	0	1	0	0	0	5700	1087	38	1	1119	1	FBLN1	22	45938049	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	9248214	45938049	5366517	329	760											
CELSR1	9620	genome.wustl.edu	37	chr22	46762287	46762287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgcggcctgacctgaCgatgctgtccagcgaggcgg	17	12	0	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:46762287C>T	ENST00000262738.3	-	30	8295	c.8296G>A	c.(8296-8298)Gtc>Atc	p.V2766I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2766					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)			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)		CCTGACCTGACGATGCTGTCC	0.632																																																	0								ENSG00000075275						26	21	23					22																	46762287		1969	3812	5781	CELSR1	SO:0001583	missense	0			-	HGNC	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.8296G>A	22.37:g.46762287C>T	ENSP00000262738:p.Val2766Ile	Somatic	0	52	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2766I	ENST00000262738.3	37	c.8296	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	c	2.793	-0.250885	0.05867	.	.	ENSG00000075275	ENST00000262738	T	0.68331	-0.32	4.47	-8.94	0.00768	.	0.560044	0.15094	U	0.280912	T	0.43942	0.1270	L	0.39898	1.24	0.36056	D	0.841119	B	0.23806	0.091	B	0.11329	0.006	T	0.18871	-1.0323	10	0.16896	T	0.51	.	8.5942	0.33705	0.0:0.3188:0.2404:0.4408	.	2766	Q9NYQ6	CELR1_HUMAN	I	2766	ENSP00000262738:V2766I	ENSP00000262738:V2766I	V	-	1	0	CELSR1	45140951	0.286000	0.24305	0.013000	0.15412	0.059000	0.15707	-0.422000	0.07043	-2.483000	0.00521	-0.719000	0.03609	GTC	-	NULL		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	C	NM_014246	-		46762287	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	0.020	T	T	46762287	C	T	46762287	3	4	9	1	0	0	0	0	1	0	0	0	3223	536	19	1	772	1	CELSR1	22	46762287	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	824238	46762287	4542279	330	761											
CERK	64781	genome.wustl.edu	37	chr22	47095308	47095308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagggacacggagtagCgaaggagtgtgctgttgtgg	18	7	0	0	rs144086274		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:47095308C>T	ENST00000216264.8	-	8	957	c.845G>A	c.(844-846)cGc>cAc	p.R282H	CERK_ENST00000541677.1_Missense_Mutation_p.R84H	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	282					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACGGAGTAGCGAAGGAGTGT	0.597																																																	0								ENSG00000100422						235	171	193					22																	47095308		2203	4300	6503	CERK	SO:0001583	missense	0			-	HGNC	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.845G>A	22.37:g.47095308C>T	ENSP00000216264:p.Arg282His	Somatic	0	45	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP							pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.R282H	ENST00000216264.8	37	c.845	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598719	0.66332	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.16597	2.33;2.33	4.96	3.87	0.44632	.	0.151405	0.41823	D	0.000810	T	0.21267	0.0512	M	0.86502	2.82	0.58432	D	0.99999	P	0.51653	0.947	B	0.43508	0.422	T	0.06215	-1.0839	10	0.21014	T	0.42	-4.2751	3.8329	0.08882	0.0:0.6641:0.0:0.3359	.	282	Q8TCT0	CERK1_HUMAN	H	282;84	ENSP00000216264:R282H;ENSP00000438659:R84H	ENSP00000216264:R282H	R	-	2	0	CERK	45473972	0.989000	0.36119	0.978000	0.43139	0.364000	0.29643	2.660000	0.46749	2.301000	0.77427	0.563000	0.77884	CGC	-	NULL		0.597	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	protein_coding	OTTHUMT00000317924.2	C	NM_022766	-		47095308	-1	no_errors	ENST00000216264	ensembl	human	known	74_37	missense	SNP	0.988	T	T	47095308	C	T	47095308	3	4	9	1	0	0	0	0	1	0	0	0	3269	768	27	1	792	1	CERK	22	47095308	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	333021	47095308	4209258	331	762											
CPT1B	1375	genome.wustl.edu	37	chr22	51011375	51011375	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatcttcggggtcataGgagtaggattcctcatccag	11	11	4	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:51011375G>T	ENST00000360719.2	-	11	1418	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	CPT1B_ENST00000457250.1_Silent_p.S393S|CPT1B_ENST00000434492.2_Silent_p.S224S|CPT1B_ENST00000312108.7_Silent_p.S427S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.S427S|CPT1B_ENST00000405237.3_Silent_p.S427S|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	427			S -> C (in dbSNP:rs8142477).		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGGGGTCATAGGAGTAGGATT	0.582																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0								ENSG00000205560						124	118	120					22																	51011375		2203	4300	6503	CPT1B	SO:0001819	synonymous_variant	0			-	HGNC	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1281C>A	22.37:g.51011375G>T		Somatic	0	36	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP							pfam_Carn_acyl_trans	p.S427	ENST00000360719.2	37	c.1281	CCDS14098.1	22																																																																																			-	pfam_Carn_acyl_trans		0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	protein_coding	OTTHUMT00000317264.5	G	NM_152246	-		51011375	-1	no_errors	ENST00000312108	ensembl	human	known	74_37	silent	SNP	0.009	T	T	51011375	G	T	51011375	2	4	9	1	0	0	0	0	0	0	0	1	3834	987	35	3		3	CPT1B	22	51011375	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	3916067	51011375	293191	332	763											
BCOR	54880	genome.wustl.edu	37	chrX	39933594	39933594	+	Frame_Shift_Del	DEL	G	G	-													cggggtgacggccgaggcgaGgggggcaacaggagagctgt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:39933594delG	ENST00000378444.4	-	4	1233	c.1005delC	c.(1003-1005)cccfs	p.P335fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.P335fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.P335fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.P335fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	335					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						GCCGAGGCGAGGGGGGCAACA	0.632			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0								ENSG00000183337						34	28	30					X																	39933594		2202	4300	6502	BCOR	SO:0001589	frameshift_variant	0				HGNC	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.1005delC	X.37:g.39933594delG	ENSP00000367705:p.Pro335fs	Somatic	0	26	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S336fs	ENST00000378444.4	37	c.1005	CCDS48093.1	X																																																																																			-	NULL		0.632	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	G	NM_017745			39933594	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_del	DEL	0.954	-	-	39933594	G	-	39933594	7	5	9	1	0	1	0	1	0	0	0	0	1386	987	35	0	4310	0	BCOR	23	39933594	Frame_Shift_Del	DEL	G	TCGA-3B-A9HT-01A-11D-A38Z-09		39933594	115336966	333	764											
CACNA1F	778	genome.wustl.edu	37	chrX	49068717	49068717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgcctgcatgccaatgaCggcatagatgaagaatatca	9	9	1	4	rs151203138	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:49068717C>T	ENST00000376265.2	-	34	4088	c.4027G>A	c.(4027-4029)Gtc>Atc	p.V1343I	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1332I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1278I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1343					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)	p.V1343I(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGCCAATGACGGCATAGATG	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000102001	C	ILE/VAL	1,3834		0,1,0,1631,571	39	31	33		4027	5	1	X	dbSNP_134	33	1,6727		0,0,1,2428,1871	no	missense	CACNA1F	NM_005183.2	29	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	possibly-damaging	1343/1978	49068717	2,10561	2203	4300	6503	CACNA1F	SO:0001583	missense	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4027G>A	X.37:g.49068717C>T	ENSP00000365441:p.Val1343Ile	Somatic	0	23	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	15	54.55	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.V1343I	ENST00000376265.2	37	c.4027	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612013	0.66558	2.61E-4	1.49E-4	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98150	-4.75;-4.75;-4.75	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	L	0.49513	1.565	0.54753	D	0.999983	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.98065	1.0395	10	0.36615	T	0.2	.	16.1288	0.81412	0.0:1.0:0.0:0.0	.	1332;1343	F5CIQ9;O60840	.;CAC1F_HUMAN	I	1278;1332;1343	ENSP00000365427:V1278I;ENSP00000321618:V1332I;ENSP00000365441:V1343I	ENSP00000321618:V1332I	V	-	1	0	CACNA1F	48955661	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.959000	0.70339	2.058000	0.61347	0.544000	0.68410	GTC	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	C	NM_005183	rs151203138		49068717	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49068717	C	T	49068717	3	4	9	1	0	0	0	0	1	0	0	0	2545	536	19	1	1966	1	CACNA1F	23	49068717	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	9135123	49068717	106201843	334	765											
WNK3	65267	genome.wustl.edu	37	chrX	54275146	54275146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacatgtaaacacaattcgCtgggtacagaagttatcaca	7	8	1	1			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:54275146C>A	ENST00000375159.2	-	16	3634	c.3635G>T	c.(3634-3636)aGc>aTc	p.S1212I	WNK3_ENST00000354646.2_Missense_Mutation_p.S1212I|WNK3_ENST00000375169.3_Missense_Mutation_p.S1212I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1212					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						ACACAATTCGCTGGGTACAGA	0.378																																																	0								ENSG00000196632						58	51	53					X																	54275146		2203	4299	6502	WNK3	SO:0001583	missense	0			-	HGNC	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.3635G>T	X.37:g.54275146C>A	ENSP00000364301:p.Ser1212Ile	Somatic	0	61	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	58	29.27	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S1212I	ENST00000375159.2	37	c.3635	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085194	0.55861	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71222	-0.54;-0.55;-0.55	5.35	4.48	0.54585	.	0.168250	0.41938	D	0.000793	T	0.71467	0.3343	L	0.29908	0.895	0.26036	N	0.981677	D;D	0.67145	0.996;0.974	P;P	0.61533	0.89;0.737	T	0.64428	-0.6410	10	0.66056	D	0.02	-6.8252	10.776	0.46350	0.0:0.9042:0.0:0.0958	.	1212;1212	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	1212	ENSP00000364312:S1212I;ENSP00000346667:S1212I;ENSP00000364301:S1212I	ENSP00000346667:S1212I	S	-	2	0	WNK3	54291871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.209000	0.32357	2.218000	0.71995	0.544000	0.68410	AGC	-	NULL		0.378	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	C	NM_020922	-		54275146	-1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54275146	C	A	54275146	3	1	9	1	0	0	0	0	1	0	0	0	17386	797	28	3	1799	3	WNK3	23	54275146	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5206429	54275146	100995414	335	766											
EDA2R	60401	genome.wustl.edu	37	chrX	65819393	65819393	+	Frame_Shift_Del	DEL	C	C	-													cagtgctttcgactgtgtttCcccccaaggtctcagctcca							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:65819393delC	ENST00000374719.3	-	6	883	c.827delG	c.(826-828)ggafs	p.G276fs	EDA2R_ENST00000451436.2_Frame_Shift_Del_p.G152fs|EDA2R_ENST00000450752.1_Frame_Shift_Del_p.G297fs|EDA2R_ENST00000396050.1_Frame_Shift_Del_p.G276fs|EDA2R_ENST00000456230.2_Frame_Shift_Del_p.G276fs|EDA2R_ENST00000253392.5_Frame_Shift_Del_p.G297fs	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	276					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GACTGTGTTTCCCCCCAAGGT	0.542																																																	0								ENSG00000131080						30	26	28					X																	65819393		2200	4299	6499	EDA2R	SO:0001589	frameshift_variant	0				HGNC	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.827delG	X.37:g.65819393delC	ENSP00000363851:p.Gly276fs	Somatic	0	8	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Frame_Shift_Del	DEL							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27	p.G297fs	ENST00000374719.3	37	c.890	CCDS14386.1	X																																																																																			-	NULL		0.542	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	protein_coding	OTTHUMT00000057002.1	C	NM_021783			65819393	-1	no_errors	ENST00000253392	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	65819393	C	-	65819393	7	5	9	1	0	1	0	1	0	0	0	0	4906	855	30	0	70	0	EDA2R	23	65819393	Frame_Shift_Del	DEL	C	TCGA-3B-A9HT-01A-11D-A38Z-09	11544247	65819393	89451167	336	767											
NLGN3	54413	genome.wustl.edu	37	chrX	70389119	70389119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagggatcccaacaagccGgtcccccaggacaccaagtt	9	15	1	0	rs370836243		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:70389119G>A	ENST00000358741.3	+	8	2022	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.P553P|NLGN3_ENST00000536169.1_Silent_p.P533P	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	573					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAACAAGCCGGTCCCCCAGG	0.527																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0								ENSG00000196338	G	,,	1,3834		0,1,1631,571	48	39	42		1599,1659,1719	-0.1	1	X		42	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	NLGN3	NM_001166660.1,NM_018977.3,NM_181303.1	,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,	533/809,553/829,573/849	70389119	1,10562	2203	4300	6503	NLGN3	SO:0001819	synonymous_variant	0			-	HGNC	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1719G>A	X.37:g.70389119G>A		Somatic	0	39	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	42	42.47	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P573	ENST00000358741.3	37	c.1719	CCDS55441.1	X																																																																																			-	pfam_CarbesteraseB,prints_Neuroligin		0.527	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	protein_coding	OTTHUMT00000057121.1	G	NM_018977	-		70389119	1	no_errors	ENST00000358741	ensembl	human	known	74_37	silent	SNP	0.573	A	A	70389119	G	A	70389119	2	1	9	1	0	0	0	0	0	0	0	1	10465	1103	39	1		1	NLGN3	23	70389119	Silent	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	4569726	70389119	84881441	337	768											
GJB1	2705	genome.wustl.edu	37	chrX	70444048	70444048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggctatgccatggtgcGgctggtcaagtgcgacgtct	14	12	2	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:70444048G>A	ENST00000374022.3	+	2	586	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	GJB1_ENST00000361726.6_Missense_Mutation_p.R164Q|GJB1_ENST00000374029.1_Missense_Mutation_p.R164Q	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	164			R -> Q (in CMTX1). {ECO:0000269|PubMed:10220155, ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10923043, ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9361298}.|R -> W (in CMTX1; moderate). {ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:8733054, ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9361298}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCCATGGTGCGGCTGGTCAAG	0.567																																																	0			GRCh37	CM970669	GJB1	M		ENSG00000169562						164	127	140					X																	70444048		2203	4299	6502	GJB1	SO:0001583	missense	0			-	HGNC	X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.491G>A	X.37:g.70444048G>A	ENSP00000363134:p.Arg164Gln	Somatic	0	20	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.R164Q	ENST00000374022.3	37	c.491	CCDS14408.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964245	0.74131	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.95518	-3.73;-3.73;-3.73	4.81	4.81	0.61882	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97186	0.9854	10	0.35671	T	0.21	.	17.1709	0.86830	0.0:0.0:1.0:0.0	.	164	P08034	CXB1_HUMAN	Q	164	ENSP00000363141:R164Q;ENSP00000363134:R164Q;ENSP00000354900:R164Q	ENSP00000354900:R164Q	R	+	2	0	GJB1	70360773	1.000000	0.71417	0.992000	0.48379	0.747000	0.42532	9.654000	0.98509	2.234000	0.73211	0.592000	0.82586	CGG	-	pfam_Connexin_CCC		0.567	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	protein_coding	OTTHUMT00000057133.1	G	NM_000166	-		70444048	1	no_errors	ENST00000361726	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70444048	G	A	70444048	3	1	9	1	0	0	0	0	1	0	0	0	6409	1116	39	1	493	1	GJB1	23	70444048	Missense_Mutation	SNP	G	TCGA-3B-A9HT-01A-11D-A38Z-09	54929	70444048	84826512	338	769											
BEX2	84707	genome.wustl.edu	37	chrX	102564733	102564733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggatgggctgcctaaCgcggaaccgcctacggtttc	13	13	0	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:102564733C>T	ENST00000372677.3	-	3	439	c.172G>A	c.(172-174)Gtt>Att	p.V58I	BEX2_ENST00000372674.1_Missense_Mutation_p.V58I|BEX2_ENST00000536889.1_Missense_Mutation_p.V90I	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	58					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						GGCTGCCTAACGCGGAACCGC	0.498																																																	0								ENSG00000133134						156	136	143					X																	102564733		2203	4300	6503	BEX2	SO:0001583	missense	0			-	HGNC	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.172G>A	X.37:g.102564733C>T	ENSP00000361762:p.Val58Ile	Somatic	0	19	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	12	55.56	B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP							pfam_TF_A-like/BEX-like	p.V90I	ENST00000372677.3	37	c.268	CCDS14505.1	X	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998151	0.35226	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.01	2.23	0.28157	.	0.697281	0.12501	N	0.463336	T	0.12817	0.0311	M	0.78916	2.43	0.09310	N	1	P;P	0.46912	0.886;0.861	B;B	0.38106	0.265;0.228	T	0.20538	-1.0272	10	0.56958	D	0.05	.	5.5895	0.17293	0.0:0.7424:0.0:0.2576	.	58;90	Q9BXY8;F5H7H5	BEX2_HUMAN;.	I	58;90;58;58	ENSP00000361762:V58I;ENSP00000442521:V90I;ENSP00000361759:V58I;ENSP00000394915:V58I	ENSP00000361759:V58I	V	-	1	0	BEX2	102451389	0.506000	0.26139	0.032000	0.17829	0.760000	0.43138	0.817000	0.27281	0.469000	0.27268	0.600000	0.82982	GTT	-	pfam_TF_A-like/BEX-like		0.498	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BEX2	protein_coding	OTTHUMT00000057702.1	C	NM_032621	-		102564733	-1	no_errors	ENST00000536889	ensembl	human	known	74_37	missense	SNP	0.034	T	T	102564733	C	T	102564733	3	4	9	1	0	0	0	0	1	0	0	0	1411	536	19	1	218	1	BEX2	23	102564733	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	32120685	102564733	52705827	339	770											
SMARCA1	6594	genome.wustl.edu	37	chrX	128582345	128582346	+	Frame_Shift_Del	DEL	CT	CT	-													tgcccgtttcttcttttctgCtctctctctttcctcaattt							TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:128582345_128582346delCT	ENST00000371122.4	-	24	3234_3235	c.3105_3106delAG	c.(3103-3108)agagcafs	p.RA1035fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.RA1023fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.RA1023fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1035					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTTTCTGCTCTCTCTCTTT	0.312																																																	0								ENSG00000102038																																			SMARCA1	SO:0001589	frameshift_variant	0				HGNC	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3105_3106delAG	X.37:g.128582353_128582354delCT	ENSP00000360163:p.Arg1035fs	Somatic	0	42	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	64	14.67	Q5JV41|Q5JV42	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1035fs	ENST00000371122.4	37	c.3106_3105	CCDS14612.1	X																																																																																			-	superfamily_Homeodomain-like		0.312	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	protein_coding	OTTHUMT00000058206.1	CT	NM_003069			128582346	-1	no_errors	ENST00000371122	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	128582346	CT	-	128582345	7	5	9	1	0	1	0	1	0	0	0	0	14776	797	28	0	62	0	SMARCA1	23	128582345	Frame_Shift_Del	DEL	CT	TCGA-3B-A9HT-01A-11D-A38Z-09	26017612	128582345	26688215	340	771											
MAMLD1	10046	genome.wustl.edu	37	chrX	149639409	149639409	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaccctgagcatgatcAtgcagcaggggatggcaagc	12	11	1	2			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:149639409A>T	ENST00000370401.2	+	4	1874	c.1564A>T	c.(1564-1566)Atg>Ttg	p.M522L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.M497L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M522L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M497L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.M3L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	522					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCATGATCATGCAGCAGGG	0.532																																																	0								ENSG00000013619						94	80	85					X																	149639409		2203	4300	6503	MAMLD1	SO:0001583	missense	0			-	HGNC	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1564A>T	X.37:g.149639409A>T	ENSP00000359428:p.Met522Leu	Somatic	0	12	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP							NULL	p.M497L	ENST00000370401.2	37	c.1489	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785940	0.49997	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.45	0.259	0.15583	.	0.114703	0.64402	D	0.000015	T	0.61887	0.2383	L	0.41824	1.3	0.27336	N	0.956643	P;B;P	0.44090	0.826;0.183;0.826	P;B;P	0.57009	0.811;0.032;0.811	T	0.52638	-0.8549	10	0.18276	T	0.48	-17.0185	4.2982	0.10911	0.5218:0.3007:0.0762:0.1013	.	497;497;522	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	L	522;497;522;497;3	ENSP00000359428:M522L;ENSP00000414517:M497L;ENSP00000262858:M522L;ENSP00000397438:M497L;ENSP00000389106:M3L	ENSP00000262858:M522L	M	+	1	0	MAMLD1	149390067	0.999000	0.42202	0.953000	0.39169	0.963000	0.63663	1.016000	0.29976	0.227000	0.20999	0.430000	0.28490	ATG	-	NULL		0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	protein_coding	OTTHUMT00000060844.2	A	NM_005491	-		149639409	1	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	SNP	0.987	T	T	149639409	A	T	149639409	3	4	9	1	0	0	0	0	1	0	0	0	9210	217	8	5	1574	5	MAMLD1	23	149639409	Missense_Mutation	SNP	A	TCGA-3B-A9HT-01A-11D-A38Z-09	21057064	149639409	5631151	341	772											
IL9R	3581	genome.wustl.edu	37	chrX	155239605	155239605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtggcccagcgcgtcCttggaaatctgtggccctgg	13	13	1	0			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:155239605C>A	ENST00000244174.5	+	9	1276	c.1097C>A	c.(1096-1098)cCt>cAt	p.P366H	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.P345H	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	366					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					CCAGCGCGTCCTTGGAAATCT	0.657																																																	0								ENSG00000124334						40	69	60					X																	155239605		1970	4257	6227	IL9R	SO:0001583	missense	0			-	HGNC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1097C>A	X.37:g.155239605C>A	ENSP00000244174:p.Pro366His	Somatic	0	182	0		0.541044483752981				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	175	15.87	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.P366H	ENST00000244174.5	37	c.1097	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	10.53	1.376913	0.24857	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12879	2.64;2.64	1.44	1.44	0.22558	.	1.694830	0.03491	N	0.216608	T	0.31979	0.0814	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.09751	-1.0660	9	0.72032	D	0.01	-7.8003	5.8372	0.18613	0.0:1.0:0.0:0.0	.	366	Q01113	IL9R_HUMAN	H	366;345	ENSP00000244174:P366H;ENSP00000388918:P345H	ENSP00000244174:P366H	P	+	2	0	IL9R	154892799	0.001000	0.12720	0.003000	0.11579	0.022000	0.10575	0.277000	0.18734	1.015000	0.39444	0.287000	0.19450	CCT	-	NULL		0.657	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	protein_coding	OTTHUMT00000058981.1	C	NM_002186	-		155239605	1	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	SNP	0.003	A	A	155239605	C	A	155239605	3	1	9	1	0	0	0	0	1	0	0	0	7710	681	24	3	1131	3	IL9R	23	155239605	Missense_Mutation	SNP	C	TCGA-3B-A9HT-01A-11D-A38Z-09	5600196	155239605	30955	342	773											
HNRNPCL1	343069	genome.wustl.edu	37	chr1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccagctggtcatcccccTgatcttcattaacatcatca	4	15	5	1	rs74587302|rs559905244	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	262						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCCCCTGATCTTCATT	0.498																																																	0								ENSG00000179172						143	157	152					1																	12907358		2203	4300	6503	HNRNPCL1	SO:0001583	missense	0			-	HGNC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg	Somatic	0	42	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B2RP44	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.Q262R	ENST00000317869.6	37	c.785	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG	-	pirsf_hnRNP_C_Raly		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	protein_coding	OTTHUMT00000005462.1	T	NM_001013631	rs74587302		12907358	-1	no_errors	ENST00000317869	ensembl	human	known	74_37	missense	SNP	0.036	C	C	12907358	T	C	12907358	3	2	10	1	0	0	0	0	1	0	0	0	7265	1580	55	5	98	5	HNRNPCL1	1	12907358	Missense_Mutation	SNP	T	TCGA-3B-A9HU-01A-11D-A38Z-09		12907358	236343263	1	774											
EPHA2	1969	genome.wustl.edu	37	chr1	16461655	16461656	+	Frame_Shift_Ins	INS	-	-	C													tcacggagaaaccctcggtgINScggcgcacattgtagctgtt							TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:16461655_16461656insC	ENST00000358432.5	-	7	1611_1612	c.1457_1458insG	c.(1456-1458)cgcfs	p.R486fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	486	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	AACCCTCGGTGCGGCGCACATT	0.698																																																	0								ENSG00000142627																																			EPHA2	SO:0001589	frameshift_variant	0				HGNC	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.1458dupG	1.37:g.16461656_16461656dupC	ENSP00000351209:p.Arg486fs	Somatic	0	29	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	B5A968|Q8N3Z2	Frame_Shift_Ins	INS							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T487fs	ENST00000358432.5	37	c.1458_1457	CCDS169.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.698	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	-	NM_004431			16461656	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	frame_shift_ins	INS	0.484:0.889	C	C	16461656	-	C	16461655	7	5	10	1	0	1	1	0	0	0	0	0	5169	1306	46	0	1516	0	EPHA2	1	16461655	Frame_Shift_Ins	INS	-	TCGA-3B-A9HU-01A-11D-A38Z-09	3554297	16461655	232788966	2	775											
EPHA8	2046	genome.wustl.edu	37	chr1	22927488	22927488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactgttggcacaaggaccGggcgcagcggcctcgcttct	14	14	1	0	rs146856523	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:22927488G>A	ENST00000166244.3	+	15	2708	c.2636G>A	c.(2635-2637)cGg>cAg	p.R879Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	879	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CACAAGGACCGGGCGCAGCGG	0.662													G|||	10	0.00199681	0	0	5008	,	,		17508	0		0	False		,,,				2504	0.0102																0								ENSG00000070886	G	GLN/ARG	0,4406		0,0,2203	63	60	61		2636	4.9	1	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA8	NM_020526.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	879/1006	22927488	1,13005	2203	4300	6503	EPHA8	SO:0001583	missense	0			-	HGNC	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.2636G>A	1.37:g.22927488G>A	ENSP00000166244:p.Arg879Gln	Somatic	0	31	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R879Q	ENST00000166244.3	37	c.2636	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.896527	0.97081	0.0	1.16E-4	ENSG00000070886	ENST00000166244	T	0.62105	0.05	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	P	0.58520	0.84	T	0.69533	-0.5120	10	0.87932	D	0	.	16.8659	0.86029	0.0:0.0:1.0:0.0	.	879	P29322	EPHA8_HUMAN	Q	879	ENSP00000166244:R879Q	ENSP00000166244:R879Q	R	+	2	0	EPHA8	22800075	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	9.657000	0.98554	2.566000	0.86566	0.561000	0.74099	CGG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	G	NM_020526	rs146856523		22927488	1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22927488	G	A	22927488	3	1	10	1	0	0	0	0	1	0	0	0	5175	1116	39	1	2867	1	EPHA8	1	22927488	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	6465833	22927488	226323133	3	776											
PABPC4	8761	genome.wustl.edu	37	chr1	40030124	40030124	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggtagtagggaggccaCgagaggccggagcattacca	17	8	0	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:40030124C>T	ENST00000372857.3	-	10	2198				SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.R475H|PABPC4_ENST00000372856.3_Missense_Mutation_p.R475H|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)						blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGGAGGCCACGAGAGGCCGG	0.577																																																	0								ENSG00000090621						94	92	93					1																	40030124		2203	4300	6503	PABPC4	SO:0001627	intron_variant	0			-	HGNC	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1405+18G>A	1.37:g.40030124C>T		Somatic	0	33	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R475H	ENST00000372857.3	37	c.1424	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.981251|3.981251	0.74474|0.74474	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372858;ENST00000372856|ENST00000437136;ENST00000421687;ENST00000527718	T;T|.	0.15718|.	2.53;2.4|.	5.94|5.94	4.07|4.07	0.47477|0.47477	.|.	0.164390|.	0.53938|.	D|.	0.000055|.	T|T	0.36303|0.36303	0.0962|0.0962	N|N	0.08118|0.08118	0|0	0.44890|0.44890	D|D	0.997902|0.997902	B;B|.	0.16166|.	0.012;0.016|.	B;B|.	0.16289|.	0.015;0.006|.	T|T	0.18398|0.18398	-1.0338|-1.0338	10|5	0.14252|.	T|.	0.57|.	.|.	13.0379|13.0379	0.58882|0.58882	0.0:0.8688:0.0:0.1312|0.0:0.8688:0.0:0.1312	.|.	475;475|.	Q13310-2;Q4VC03|.	.;.|.	H|M	475|14;377;197	ENSP00000361949:R475H;ENSP00000361947:R475H|.	ENSP00000361947:R475H|.	R|V	-|-	2|1	0|0	PABPC4|PABPC4	39802711|39802711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.046000|5.046000	0.64226|0.64226	1.534000|1.534000	0.49203|0.49203	0.561000|0.561000	0.74099|0.74099	CGT|GTG	-	tigrfam_PABP_1234		0.577	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	protein_coding	OTTHUMT00000025220.1	C	NM_001135653	-		40030124	-1	no_errors	ENST00000372858	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40030124	C	T	40030124	1	4	10	0	1	0	0	0	0	0	0	0	11368	536	19	1		1	PABPC4	1	40030124	Intron	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	17102636	40030124	209220497	4	777											
TRIM58	25893	genome.wustl.edu	37	chr1	248020718	248020718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcggcgtctacgcctGtccgcagtgccggggcccct	16	16	1	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:248020718G>C	ENST00000366481.3	+	1	218	c.170G>C	c.(169-171)tGt>tCt	p.C57S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	57						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCTACGCCTGTCCGCAGTGC	0.736																																																	0								ENSG00000162722						9	10	10					1																	248020718		2184	4281	6465	TRIM58	SO:0001583	missense	0			-	HGNC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.170G>C	1.37:g.248020718G>C	ENSP00000355437:p.Cys57Ser	Somatic	0	55	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	Q6B0H9	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.C57S	ENST00000366481.3	37	c.170	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376061	0.61735	.	.	ENSG00000162722	ENST00000366481	T	0.54479	0.57	4.19	4.19	0.49359	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.221234	0.31685	N	0.007223	D	0.82296	0.5006	H	0.98446	4.235	0.48830	D	0.999716	D	0.89917	1.0	D	0.80764	0.994	D	0.89065	0.3465	10	0.87932	D	0	.	14.4407	0.67314	0.0:0.0:1.0:0.0	.	57	Q8NG06	TRI58_HUMAN	S	57	ENSP00000355437:C57S	ENSP00000355437:C57S	C	+	2	0	TRIM58	246087341	1.000000	0.71417	0.113000	0.21522	0.013000	0.08279	6.796000	0.75145	2.353000	0.79882	0.650000	0.86243	TGT	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.736	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	protein_coding	OTTHUMT00000096860.1	G	NM_015431	-		248020718	1	no_errors	ENST00000366481	ensembl	human	known	74_37	missense	SNP	0.997	C	C	248020718	G	C	248020718	3	2	10	1	0	0	0	0	1	0	0	0	16538	1377	48	4	172	4	TRIM58	1	248020718	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	207990594	248020718	1229903	5	778											
RGPD4	285190	genome.wustl.edu	37	chr2	108459652	108459652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagaggaacatagctttgcGttcaagtttagagtggaatt	12	4	1	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:108459652G>C	ENST00000408999.3	+	5	670	c.593G>C	c.(592-594)cGt>cCt	p.R198P	RGPD4_ENST00000354986.4_Missense_Mutation_p.R198P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	198					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATAGCTTTGCGTTCAAGTTTA	0.433																																																	0								ENSG00000196862						1	1	1					2																	108459652		2	5	7	RGPD4	SO:0001583	missense	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.593G>C	2.37:g.108459652G>C	ENSP00000386810:p.Arg198Pro	Somatic	0	15	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	5	37.50	B9A029	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R198P	ENST00000408999.3	37	c.593	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	10.07	1.249001	0.22880	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.30981	1.51;1.51	2.65	2.65	0.31530	.	.	.	.	.	T	0.34454	0.0898	M	0.66939	2.045	0.21445	N	0.999687	D	0.56521	0.976	P	0.46389	0.515	T	0.17077	-1.0381	9	0.51188	T	0.08	-5.9722	7.2947	0.26387	0.1416:0.0:0.8584:0.0	.	198	Q7Z3J3	RGPD4_HUMAN	P	198;198;141	ENSP00000347081:R198P;ENSP00000386810:R198P	ENSP00000347081:R198P	R	+	2	0	RGPD4	107826084	1.000000	0.71417	0.996000	0.52242	0.265000	0.26407	3.417000	0.52714	1.313000	0.45069	0.184000	0.17185	CGT	-	NULL		0.433	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581	-		108459652	1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	SNP	0.811	C	C	108459652	G	C	108459652	3	2	10	1	0	0	0	0	1	0	0	0	13296	1145	40	4	611	4	RGPD4	2	108459652	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09		108459652	134739721	6	779											
MARCO	8685	genome.wustl.edu	37	chr2	119739778	119739778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcctggtgcagtgggAcacccaggtgccaagggtga	16	12	0	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:119739778A>G	ENST00000327097.4	+	11	1083	c.948A>G	c.(946-948)ggA>ggG	p.G316G	MARCO_ENST00000541757.1_Silent_p.G238G	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	316	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGCAGTGGGACACCCAGGTG	0.622																																					GBM(8;18 374 7467 11269 32796)												0								ENSG00000019169						61	66	64					2																	119739778		2203	4300	6503	MARCO	SO:0001819	synonymous_variant	0			-	HGNC	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.948A>G	2.37:g.119739778A>G		Somatic	0	36	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	B4DW79|Q9Y5S3	Silent	SNP							pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G316	ENST00000327097.4	37	c.948	CCDS2124.1	2																																																																																			-	NULL		0.622	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	protein_coding	OTTHUMT00000254190.2	A	NM_006770	-		119739778	1	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	SNP	0.284	G	G	119739778	A	G	119739778	2	3	10	1	0	0	0	0	0	0	0	1	9313	262	10	5		5	MARCO	2	119739778	Silent	SNP	A	TCGA-3B-A9HU-01A-11D-A38Z-09	11280126	119739778	123459595	7	780											
DNAH7	56171	genome.wustl.edu	37	chr2	196709754	196709754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcccattatcaatggaaaAtgagtcagaaggtaatccag	8	7	2	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:196709754A>G	ENST00000312428.6	-	47	9017	c.8917T>C	c.(8917-8919)Ttt>Ctt	p.F2973L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2973	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAATGGAAAATGAGTCAGAA	0.343																																																	0								ENSG00000118997						84	76	78					2																	196709754		1833	4082	5915	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8917T>C	2.37:g.196709754A>G	ENSP00000311273:p.Phe2973Leu	Somatic	0	119	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	81	33.06	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.F2973L	ENST00000312428.6	37	c.8917	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894552	0.91962	.	.	ENSG00000118997	ENST00000312428	T	0.64438	-0.1	5.42	5.42	0.78866	.	0.000000	0.47093	U	0.000243	T	0.71298	0.3323	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66787	-0.5835	10	0.22706	T	0.39	.	15.2879	0.73843	1.0:0.0:0.0:0.0	.	2973	Q8WXX0	DYH7_HUMAN	L	2973	ENSP00000311273:F2973L	ENSP00000311273:F2973L	F	-	1	0	DNAH7	196417999	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.182000	0.89698	2.276000	0.75962	0.528000	0.53228	TTT	-	NULL		0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	A	NM_018897	-		196709754	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	0.997	G	G	196709754	A	G	196709754	3	3	10	1	0	0	0	0	1	0	0	0	4608	101	4	5	3233	5	DNAH7	2	196709754	Missense_Mutation	SNP	A	TCGA-3B-A9HU-01A-11D-A38Z-09	76969976	196709754	46489619	8	781											
SGOL1	151648	genome.wustl.edu	37	chr3	20216049	20216050	+	Frame_Shift_Ins	INS	-	-	T													ggaactgacagatttgtgcaINStttttttttggggaacagtt							TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr3:20216049_20216050insT	ENST00000263753.4	-	6	1112_1113	c.973_974insA	c.(973-975)atgfs	p.M325fs	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000412868.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000421451.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412997.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000306698.2_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	325					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGATTTGTGCATTTTTTTTTGG	0.317																																																	0								ENSG00000129810																																			SGOL1	SO:0001589	frameshift_variant	0				HGNC	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.974dupA	3.37:g.20216058_20216058dupT	ENSP00000263753:p.Met325fs	Somatic	0	22	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Frame_Shift_Ins	INS							pfam_Shugoshin_N,pfam_Shugoshin_C	p.M325fs	ENST00000263753.4	37	c.974_973	CCDS33716.1	3																																																																																			-	NULL		0.317	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	protein_coding	OTTHUMT00000340498.1	-	NM_138484			20216050	-1	no_errors	ENST00000263753	ensembl	human	known	74_37	frame_shift_ins	INS	0.002:0.000	T	T	20216050	-	T	20216049	7	5	10	1	0	1	1	0	0	0	0	0	14224	217	8	0	747	0	SGOL1	3	20216049	Frame_Shift_Ins	INS	-	TCGA-3B-A9HU-01A-11D-A38Z-09		20216049	177806381	9	782											
GPR78	27201	genome.wustl.edu	37	chr4	8588802	8588802	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcggagctcgtgcccttCgtcaccgtgaacgcccagtg	13	15	1	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr4:8588802C>T	ENST00000382487.4	+	3	1221	c.804C>T	c.(802-804)ttC>ttT	p.F268F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	268					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						TCGTGCCCTTCGTCACCGTGA	0.657																																																	0								ENSG00000155269						36	36	36					4																	8588802		2203	4299	6502	GPR78	SO:0001819	synonymous_variant	0			-	HGNC	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.804C>T	4.37:g.8588802C>T		Somatic	0	107	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.78	Q8NGV3	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F268	ENST00000382487.4	37	c.804	CCDS3403.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	protein_coding	OTTHUMT00000359201.1	C		-		8588802	1	no_errors	ENST00000382487	ensembl	human	known	74_37	silent	SNP	0.009	T	T	8588802	C	T	8588802	2	4	10	1	0	0	0	0	0	0	0	1	6712	883	31	1		1	GPR78	4	8588802	Silent	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		8588802	182565474	10	783											
NEIL3	55247	genome.wustl.edu	37	chr4	178262628	178262628	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttttttttttttttAgtgccgtaaagcaggacttg	9	4	0	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr4:178262628A>T	ENST00000264596.3	+	6	820		c.e6-1		RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)						base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTTTTTTTTTAGTGCCGTAAA	0.413								Base excision repair (BER), DNA glycosylases																																									0								ENSG00000109674						45	48	47					4																	178262628		2203	4300	6503	NEIL3	SO:0001630	splice_region_variant	0			-	HGNC	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.703-1A>T	4.37:g.178262628A>T		Somatic	0	57	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	46	11.32	Q2PPJ3|Q8NG51|Q9NV95	Splice_Site	SNP							-	e6-2	ENST00000264596.3	37	c.703-2	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391993	0.42410	.	.	ENSG00000109674	ENST00000264596	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3517	0.74393	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEIL3	178499622	1.000000	0.71417	0.708000	0.30435	0.466000	0.32739	8.677000	0.91203	2.030000	0.59900	0.533000	0.62120	.	-	-		0.413	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	protein_coding	OTTHUMT00000361914.1	A	NM_018248	-	Intron	178262628	1	no_errors	ENST00000264596	ensembl	human	known	74_37	splice_site	SNP	0.980	T	T	178262628	A	T	178262628	5	4	10	1	0	0	0	0	0	0	1	0	10322	434	15	5	723	5	NEIL3	4	178262628	Splice_Site	SNP	A	TCGA-3B-A9HU-01A-11D-A38Z-09	169673826	178262628	12891648	11	784											
FAM53C	51307	genome.wustl.edu	37	chr5	137681192	137681192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaaccttccccgaagccGctcacagccttgtgatctgg	9	17	2	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:137681192G>T	ENST00000239906.5	+	4	1243	c.815G>T	c.(814-816)cGc>cTc	p.R272L	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.A82S|FAM53C_ENST00000434981.2_Missense_Mutation_p.R272L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	272										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCCGAAGCCGCTCACAGCCT	0.657																																																	0								ENSG00000120709						47	57	53					5																	137681192		2203	4300	6503	FAM53C	SO:0001583	missense	0			-	HGNC	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.815G>T	5.37:g.137681192G>T	ENSP00000239906:p.Arg272Leu	Somatic	0	26	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B2RDJ5|D3DQB9	Missense_Mutation	SNP							NULL	p.R272L	ENST00000239906.5	37	c.815	CCDS4204.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420763|2.420763	0.42918|0.42918	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000513056|ENST00000434981;ENST00000239906	T|T;T	0.51817|0.59083	0.69|0.29;0.29	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.159909	.|0.56097	.|D	.|0.000028	T|T	0.55529|0.55529	0.1926|0.1926	M|M	0.72479|0.72479	2.2|2.2	0.28570|0.28570	N|N	0.910672|0.910672	B|P	0.31100|0.51240	0.308|0.943	B|B	0.30782|0.40256	0.12|0.324	T|T	0.65228|0.65228	-0.6219|-0.6219	9|10	0.21014|0.87932	T|D	0.42|0	-9.5018|-9.5018	11.789|11.789	0.52059|0.52059	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	82|272	D6RE00|Q9NYF3	.|FA53C_HUMAN	S|L	82|272	ENSP00000425154:A82S|ENSP00000403705:R272L;ENSP00000239906:R272L	ENSP00000425154:A82S|ENSP00000239906:R272L	A|R	+|+	1|2	0|0	FAM53C|FAM53C	137709091|137709091	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.726000|2.726000	0.47302|0.47302	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCT|CGC	-	NULL		0.657	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	protein_coding	OTTHUMT00000251278.2	G	NM_016605	-		137681192	1	no_errors	ENST00000239906	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137681192	G	T	137681192	3	4	10	1	0	0	0	0	1	0	0	0	5583	1087	38	3	825	3	FAM53C	5	137681192	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09		137681192	43234068	12	785											
KIF4B	285643	genome.wustl.edu	37	chr5	154395666	154395666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaattggcttggaaaTgaaattgaggttatggtcag	15	2	1	3			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:154395666T>C	ENST00000435029.4	+	1	2407	c.2247T>C	c.(2245-2247)aaT>aaC	p.N749N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	749	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTTGGAAATGAAATTGAGG	0.468																																																	0								ENSG00000226650						83	80	81					5																	154395666		2203	4300	6503	KIF4B	SO:0001819	synonymous_variant	0			-	HGNC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2247T>C	5.37:g.154395666T>C		Somatic	0	112	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	80	30.43		Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N749	ENST00000435029.4	37	c.2247	CCDS47324.1	5																																																																																			-	NULL		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	T		-		154395666	1	no_errors	ENST00000435029	ensembl	human	known	74_37	silent	SNP	1.000	C	C	154395666	T	C	154395666	2	2	10	1	0	0	0	0	0	0	0	1	8306	1461	51	5		5	KIF4B	5	154395666	Silent	SNP	T	TCGA-3B-A9HU-01A-11D-A38Z-09	16714474	154395666	26519594	13	786											
LTC4S	4056	genome.wustl.edu	37	chr5	179221116	179221116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctctactggctgctgtcaCcctcctgggagtcctgctgc	11	15	2	0	rs140301841		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:179221116C>A	ENST00000292596.10	+	1	130	c.35C>A	c.(34-36)aCc>aAc	p.T12N	LTC4S_ENST00000401985.3_Missense_Mutation_p.T12N|MAML1_ENST00000503050.1_3'UTR	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	12					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	GCTGCTGTCACCCTCCTGGGA	0.627																																																	0								ENSG00000213316						157	99	119					5																	179221116		2203	4300	6503	LTC4S	SO:0001583	missense	0			-	HGNC	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.35C>A	5.37:g.179221116C>A	ENSP00000292596:p.Thr12Asn	Somatic	0	71	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP							pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP	p.T12N	ENST00000292596.10	37	c.35	CCDS34316.1	5	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735652	0.49045	.	.	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.69040	0.32;-0.37	3.9	3.01	0.34805	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80644	0.4662	M	0.87827	2.91	0.20873	N	0.999834	D	0.89917	1.0	D	0.91635	0.999	T	0.68891	-0.5289	10	0.59425	D	0.04	0.017	8.1864	0.31341	0.0:0.8838:0.0:0.1162	.	12	Q16873	LTC4S_HUMAN	N	12	ENSP00000292596:T12N;ENSP00000385627:T12N	ENSP00000292596:T12N	T	+	2	0	LTC4S	179153722	0.998000	0.40836	1.000000	0.80357	0.799000	0.45148	4.931000	0.63469	1.893000	0.54813	0.462000	0.41574	ACC	-	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP		0.627	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTC4S	protein_coding	OTTHUMT00000317536.2	C	NM_000897	-		179221116	1	no_errors	ENST00000292596	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179221116	C	A	179221116	3	1	10	1	0	0	0	0	1	0	0	0	9080	507	18	3	37	3	LTC4S	5	179221116	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	24825450	179221116	1694144	14	787											
SCAND3	114821	genome.wustl.edu	37	chr6	28543119	28543119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacaattttcaattctgGccaaatattactgagttcac	6	8	3	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:28543119G>A	ENST00000452236.2	-	3	1980	c.1363C>T	c.(1363-1365)Cca>Tca	p.P455S	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						TTCAATTCTGGCCAAATATTA	0.418																																																	0								ENSG00000232040						65	66	66					6																	28543119		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.1363C>T	6.37:g.28543119G>A	ENSP00000395259:p.Pro455Ser	Somatic	0	47	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.P455S	ENST00000452236.2	37	c.1363	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672295	0.47781	.	.	ENSG00000232040	ENST00000452236	T	0.01474	4.85	2.95	2.06	0.26882	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.01254	0.0041	M	0.74258	2.255	0.26325	N	0.977619	B	0.32781	0.384	B	0.34093	0.175	T	0.37056	-0.9722	9	0.87932	D	0	.	7.6318	0.28243	0.1375:0.0:0.8625:0.0	.	455	Q6R2W3	SCND3_HUMAN	S	455	ENSP00000395259:P455S	ENSP00000395259:P455S	P	-	1	0	SCAND3	28651098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.749000	0.38319	1.668000	0.50843	0.563000	0.77884	CCA	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	G		-		28543119	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28543119	G	A	28543119	3	1	10	1	0	0	0	0	1	0	0	0	13884	1203	42	2	2622	2	SCAND3	6	28543119	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09		28543119	142571948	15	788											
DNAH8	1769	genome.wustl.edu	37	chr6	38994431	38994431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccaaggaggagatcacGtcaccccctggggtaggcgt	14	12	2	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:38994431G>T	ENST00000359357.3	+	90	13427	c.13173G>T	c.(13171-13173)acG>acT	p.T4391T	DNAH8_ENST00000441566.1_Silent_p.T4355T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4391					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATCACGTCACCCCCTG	0.532																																																	0								ENSG00000124721						111	84	93					6																	38994431		2203	4300	6503	DNAH8	SO:0001819	synonymous_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13173G>T	6.37:g.38994431G>T		Somatic	0	28	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T4391	ENST00000359357.3	37	c.13173		6																																																																																			-	pfam_Dynein_heavy_dom		0.532	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38994431	1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	SNP	0.000	T	T	38994431	G	T	38994431	2	4	10	1	0	0	0	0	0	0	0	1	4609	1132	40	3		3	DNAH8	6	38994431	Silent	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	10451312	38994431	132120636	16	789											
SNAP91	9892	genome.wustl.edu	37	chr6	84368742	84368742	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcaagcagtgcatcaatTtgtccctgtagtattggcat	8	8	2	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:84368742T>C	ENST00000439399.2	-	6	838	c.522A>G	c.(520-522)caA>caG	p.Q174Q	SNAP91_ENST00000520213.1_Silent_p.Q174Q|SNAP91_ENST00000521743.1_Silent_p.Q174Q|SNAP91_ENST00000195649.6_Silent_p.Q174Q|SNAP91_ENST00000520302.1_Silent_p.Q174Q|SNAP91_ENST00000521485.1_Silent_p.Q174Q|SNAP91_ENST00000437520.1_Silent_p.Q174Q|SNAP91_ENST00000428679.2_Silent_p.Q174Q|SNAP91_ENST00000369694.2_Silent_p.Q174Q	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	174					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTGCATCAATTTGTCCCTGTA	0.363																																																	0								ENSG00000065609						94	97	96					6																	84368742		1889	4108	5997	SNAP91	SO:0001819	synonymous_variant	0			-	HGNC	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.522A>G	6.37:g.84368742T>C		Somatic	0	61	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP							pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q174	ENST00000439399.2	37	c.522	CCDS47455.1	6																																																																																			-	pfam_ANTH_dom		0.363	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	protein_coding	OTTHUMT00000375296.1	T		-		84368742	-1	no_errors	ENST00000369694	ensembl	human	known	74_37	silent	SNP	0.998	C	C	84368742	T	C	84368742	2	2	10	1	0	0	0	0	0	0	0	1	14841	1838	64	5		5	SNAP91	6	84368742	Silent	SNP	T	TCGA-3B-A9HU-01A-11D-A38Z-09	45374311	84368742	86746325	17	790											
ROS1	6098	genome.wustl.edu	37	chr6	117718264	117718264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcaatattcctaatcaaaGgtgcagtttcaggaactgga	8	8	3	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:117718264G>T	ENST00000368508.3	-	7	791	c.593C>A	c.(592-594)cCt>cAt	p.P198H	ROS1_ENST00000368507.3_Missense_Mutation_p.P207H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P198L(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTAATCAAAGGTGCAGTTTC	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	1	Substitution - Missense(1)	lung(1)						ENSG00000047936						79	79	79					6																	117718264		2203	4300	6503	ROS1	SO:0001583	missense	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.593C>A	6.37:g.117718264G>T	ENSP00000357494:p.Pro198His	Somatic	0	45	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q15368|Q5TDB5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P198H	ENST00000368508.3	37	c.593	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917216	0.73098	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.63744	-0.06;-0.06	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.81508	0.4837	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84558	0.0648	10	0.87932	D	0	.	18.8227	0.92103	0.0:0.0:1.0:0.0	.	198	P08922	ROS1_HUMAN	H	198;207	ENSP00000357494:P198H;ENSP00000357493:P207H	ENSP00000357493:P207H	P	-	2	0	ROS1	117824957	1.000000	0.71417	0.980000	0.43619	0.885000	0.51271	7.152000	0.77419	2.762000	0.94881	0.650000	0.86243	CCT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G		-		117718264	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117718264	G	T	117718264	3	4	10	1	0	0	0	0	1	0	0	0	13539	1000	35	3	6598	3	ROS1	6	117718264	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	33349522	117718264	53396803	18	791											
KIAA0415	9907	genome.wustl.edu	37	chr7	4823388	4823388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctccagcaagggctcCcacactccggcggcttcttc	9	19	1	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:4823388C>T	ENST00000348624.4	+	5	674	c.580C>T	c.(580-582)Cca>Tca	p.P194S	AP5Z1_ENST00000401897.1_Missense_Mutation_p.P194S	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	194					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCAAGGGCTCCCACACTCCGG	0.667																																																	0								ENSG00000242802						7	10	9					7																	4823388		1884	3930	5814	AP5Z1	SO:0001583	missense	0			-	HGNC	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.580C>T	7.37:g.4823388C>T	ENSP00000297562:p.Pro194Ser	Somatic	0	95	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	76	16.48	Q8N3X2|Q96H80	Missense_Mutation	SNP							NULL	p.P194S	ENST00000348624.4	37	c.580	CCDS47528.1	7	.	.	.	.	.	.	.	.	.	.	C	2.021	-0.424819	0.04734	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.44083	0.94;0.93	4.37	0.461	0.16689	.	0.382752	0.26757	N	0.022656	T	0.21387	0.0515	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.11227	-1.0596	10	0.25751	T	0.34	.	3.7265	0.08477	0.1037:0.4183:0.3496:0.1285	.	194	O43299	K0415_HUMAN	S	194	ENSP00000297562:P194S;ENSP00000384980:P194S	ENSP00000297562:P194S	P	+	1	0	KIAA0415	4789914	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.009000	0.13219	-0.237000	0.09739	0.462000	0.41574	CCA	-	NULL		0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	protein_coding	OTTHUMT00000323771.1	C		-		4823388	1	no_errors	ENST00000348624	ensembl	human	known	74_37	missense	SNP	0.002	T	T	4823388	C	T	4823388	3	4	10	1	0	0	0	0	1	0	0	0	8177	623	22	2	598	2	KIAA0415	7	4823388	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		4823388	154315275	19	792											
TAX1BP1	8887	genome.wustl.edu	37	chr7	27856524	27856524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagatggagcagatggtgCtttttacccagatgaaatac	10	7	0	4			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:27856524C>T	ENST00000396319.2	+	15	2040	c.1952C>T	c.(1951-1953)gCt>gTt	p.A651V	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A609V|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A675V|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A609V|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A452V	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	651					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GCAGATGGTGCTTTTTACCCA	0.418																																																	0								ENSG00000106052						54	56	56					7																	27856524		2203	4300	6503	TAX1BP1	SO:0001583	missense	0			-	HGNC	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1952C>T	7.37:g.27856524C>T	ENSP00000379612:p.Ala651Val	Somatic	0	37	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP							pfam_CoCoA	p.A651V	ENST00000396319.2	37	c.1952	CCDS5415.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393406	0.83011	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.38240	2.53;2.53;2.7;1.15;2.41	5.91	5.02	0.67125	.	0.000000	0.53938	D	0.000060	T	0.57873	0.2083	M	0.63843	1.955	0.41022	D	0.98508	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.979;0.973	T	0.61686	-0.7012	10	0.56958	D	0.05	-7.9258	16.5233	0.84322	0.1318:0.8682:0.0:0.0	.	452;651;609	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	V	609;609;675;452;651;188	ENSP00000444811:A609V;ENSP00000265393:A609V;ENSP00000386515:A675V;ENSP00000391907:A452V;ENSP00000379612:A651V	ENSP00000265393:A609V	A	+	2	0	TAX1BP1	27823049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.128000	0.50492	1.491000	0.48482	0.655000	0.94253	GCT	-	NULL		0.418	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	protein_coding	OTTHUMT00000214142.1	C	NM_006024	-		27856524	1	no_errors	ENST00000396319	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27856524	C	T	27856524	3	4	10	1	0	0	0	0	1	0	0	0	15601	797	28	2	2006	2	TAX1BP1	7	27856524	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	23033136	27856524	131282139	20	793											
SEMA3A	10371	genome.wustl.edu	37	chr7	83591051	83591051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgaacccatgttccaccGcatggcagaggtaattgcct	10	11	0	2	rs150205475		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:83591051G>A	ENST00000265362.4	-	17	2266	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A651V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	651	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)			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						ATGTTCCACCGCATGGCAGAG	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		17340	0		0	False		,,,				2504	0																0								ENSG00000075213						105	94	98					7																	83591051		2203	4299	6502	SEMA3A	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.1952C>T	7.37:g.83591051G>A	ENSP00000265362:p.Ala651Val	Somatic	0	58	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29		Missense_Mutation	SNP							pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A651V	ENST00000265362.4	37	c.1952	CCDS5599.1	7	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.6	4.659451	0.88154	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01725	4.67;4.67	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	M	0.83774	2.66	0.80722	D	1	D	0.60160	0.987	P	0.48552	0.581	T	0.00455	-1.1729	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	651	Q14563	SEM3A_HUMAN	V	651	ENSP00000265362:A651V;ENSP00000415260:A651V	ENSP00000265362:A651V	A	-	2	0	SEMA3A	83428987	1.000000	0.71417	0.832000	0.32986	0.877000	0.50540	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	GCG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	G	NM_006080	rs150205475		83591051	-1	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	SNP	1.000	A	A	83591051	G	A	83591051	3	1	10	1	0	0	0	0	1	0	0	0	14032	1087	38	1	367	1	SEMA3A	7	83591051	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	55734527	83591051	75547612	21	794											
ZAN	7455	genome.wustl.edu	37	chr7	100366301	100366301	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttgcaggcgattccatgCagctgggggccgcctggaag	16	11	0	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:100366301C>A	ENST00000348028.3	+	0	5275				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGATTCCATGCAGCTGGGGGC	0.597																																																	0								ENSG00000146839						24	24	24					7																	100366301		1856	4086	5942	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366301C>A		Somatic	0	59	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	80	8.05	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.Q1704K	ENST00000348028.3	37	c.5110		7	.	.	.	.	.	.	.	.	.	.	C	9.962	1.223117	0.22457	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.21543	2.54;2.53;2.5;2.0	4.17	0.0122	0.14090	von Willebrand factor, type D domain (1);	1.249330	0.05915	N	0.632460	T	0.15825	0.0381	L	0.41906	1.305	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.18263	0.021;0.009	T	0.32107	-0.9919	10	0.33940	T	0.23	.	3.4194	0.07388	0.1617:0.43:0.3134:0.0949	.	1704;1704	F5H0T8;Q9Y493	.;ZAN_HUMAN	K	1704;1704;1704;281	ENSP00000445943:Q1704K;ENSP00000445091:Q1704K;ENSP00000444427:Q1704K;ENSP00000441117:Q281K	ENSP00000423579:Q1704K	Q	+	1	0	ZAN	100204237	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	0.045000	0.14013	-0.121000	0.11787	0.655000	0.94253	CAG	-	NULL		0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386	-		100366301	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.150	A	A	100366301	C	A	100366301	1	1	10	0	1	0	0	0	0	0	0	0	17520	711	25	3		3	ZAN	7	100366301	RNA	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	16775250	100366301	58772362	22	795											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760693	154760695	+	In_Frame_Del	DEL	CTG	CTG	-													tgctgctgctgctgctgggcCtgctgctgctgctgtagcat							TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:154760693_154760695delCTG	ENST00000404141.1	-	7	1370_1372	c.1216_1218delCAG	c.(1216-1218)cagdel	p.Q406del	PAXIP1_ENST00000397192.1_In_Frame_Del_p.Q406del|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	406	Gln-rich.			Missing (in Ref. 1; AK307417). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		gctgctgggcctgctgctgctgc	0.552																																																	0								ENSG00000157212			28,3792		4,20,1886						-5.9	0			28	58,7268		10,38,3615	no	coding	PAXIP1	NM_007349.3		14,58,5501	A1A1,A1R,RR		0.7917,0.733,0.7716				86,11060				PAXIP1	SO:0001651	inframe_deletion	0				HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1216_1218delCAG	7.37:g.154760702_154760704delCTG	ENSP00000384048:p.Gln406del	Somatic	0	47	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q406in_frame_del	ENST00000404141.1	37	c.1218_1216	CCDS47753.1	7																																																																																			-	NULL		0.552	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	CTG	NM_007349			154760695	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	in_frame_del	DEL	0.780:0.857:0.865	-	-	154760695	CTG	-	154760693	7	5	10	1	0	1	0	1	0	0	0	0	11489	680	24	0	2051	0	PAXIP1	7	154760693	In_Frame_Del	DEL	CTG	TCGA-3B-A9HU-01A-11D-A38Z-09	54394392	154760693	4377970	23	796											
ASAH1	427	genome.wustl.edu	37	chr8	17942299	17942299	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttctctcccagcccgatGcagcagttcattaagcggct	9	14	2	0	rs191092536		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:17942299G>T	ENST00000262097.6	-	0	0				ASAH1_ENST00000520781.1_5'Flank|ASAH1_ENST00000417108.2_5'Flank|ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.C4*|CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.C4*|CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|CTD-2547L16.1_ENST00000505114.2_RNA	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CCAGCCCGATGCAGCAGTTCA	0.612											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000104763						37	41	39					8																	17942299		2203	4300	6503	ASAH1	SO:0001631	upstream_gene_variant	0			-	HGNC	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997		8.37:g.17942299G>T	Exception_encountered	Somatic	0	38	0	721	0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	E9PDS0|Q6W898|Q96AS2	Nonsense_Mutation	SNP							pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.C4*	ENST00000262097.6	37	c.12	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303246	0.60195	.	.	ENSG00000104763	ENST00000381733;ENST00000314146	.	.	.	2.78	-5.57	0.02521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.0922	10.2689	0.43470	0.0:0.1196:0.71:0.1704	.	.	.	.	X	4	.	ENSP00000326970:C4X	C	-	3	2	ASAH1	17986579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-2.120000	0.00826	-2.017000	0.00434	TGC	-	NULL		0.612	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	protein_coding	OTTHUMT00000214077.2	G	NM_004315	-		17942299	-1	no_errors	ENST00000381733	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	17942299	G	T	17942299	1	4	10	0	1	0	0	0	0	0	0	0	1006	1311	46	3		3	ASAH1	8	17942299	5'Flank	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09		17942299	128421723	24	797											
DNAJC5B	85479	genome.wustl.edu	37	chr8	66963819	66963819	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctaaccaaagacagcggactCtgtcaacaacaggagaagct	9	11	2	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:66963819C>T	ENST00000276570.5	+	3	324	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	13						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAGCGGACTCTGTCAACAAC	0.413																																																	0								ENSG00000147570						138	127	130					8																	66963819		2203	4300	6503	DNAJC5B	SO:0001819	synonymous_variant	0			-	HGNC	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.37C>T	8.37:g.66963819C>T		Somatic	0	47	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	50	35.06	Q969Y8	Silent	SNP							pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L13	ENST00000276570.5	37	c.37	CCDS6183.1	8																																																																																			-	superfamily_DnaJ_domain		0.413	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	protein_coding	OTTHUMT00000378915.1	C	NM_033105	-		66963819	1	no_errors	ENST00000276570	ensembl	human	known	74_37	silent	SNP	0.000	T	T	66963819	C	T	66963819	2	4	10	1	0	0	0	0	0	0	0	1	4653	912	32	2		2	DNAJC5B	8	66963819	Silent	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	49021520	66963819	79400203	25	798											
OR13J1	392309	genome.wustl.edu	37	chr9	35869479	35869479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctggaggcccgactcCtgccccacaccttcctggcg	9	20	1	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:35869479C>A	ENST00000377981.2	-	1	982	c.920G>T	c.(919-921)aGg>aTg	p.R307M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	307						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)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCGACTCCTGCCCCACAC	0.597																																																	0								ENSG00000168828						51	47	49					9																	35869479		2203	4300	6503	OR13J1	SO:0001583	missense	0			-	HGNC		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"GPCR / Class A : Olfactory receptors"	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.920G>T	9.37:g.35869479C>A	ENSP00000367219:p.Arg307Met	Somatic	0	34	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R307M	ENST00000377981.2	37	c.920	CCDS35011.1	9	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148830	0.37923	.	.	ENSG00000168828	ENST00000377981	T	0.39406	1.08	4.25	3.3	0.37823	.	0.509432	0.18161	N	0.149783	T	0.40094	0.1103	M	0.77820	2.39	0.31060	N	0.714256	P	0.38642	0.641	B	0.34824	0.19	T	0.54463	-0.8290	10	0.72032	D	0.01	.	6.9229	0.24399	0.0:0.8664:0.0:0.1336	.	307	Q8NGT2	O13J1_HUMAN	M	307	ENSP00000367219:R307M	ENSP00000367219:R307M	R	-	2	0	OR13J1	35859479	0.007000	0.16637	0.726000	0.30738	0.029000	0.11900	1.181000	0.32017	1.295000	0.44724	0.650000	0.86243	AGG	-	NULL		0.597	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13J1	protein_coding	OTTHUMT00000052381.1	C		-		35869479	-1	no_errors	ENST00000377981	ensembl	human	known	74_37	missense	SNP	0.985	A	A	35869479	C	A	35869479	3	1	10	1	0	0	0	0	1	0	0	0	10946	681	24	3	21	3	OR13J1	9	35869479	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		35869479	105343952	26	799											
TLE1	7088	genome.wustl.edu	37	chr9	84267176	84267176	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcacctgtttggcacgttCaacagcctgggccacctgtt	11	13	2	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:84267176C>A	ENST00000376499.3	-	6	1389	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Nonsense_Mutation_p.E53*	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	109	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCACGTTCAACAGCCTGG	0.448																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								ENSG00000196781						207	175	186					9																	84267176		2203	4300	6503	TLE1	SO:0001587	stop_gained	0			-	HGNC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.325G>T	9.37:g.84267176C>A	ENSP00000365682:p.Glu109*	Somatic	0	32	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP							pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.E109*	ENST00000376499.3	37	c.325	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	C	48	14.000932	0.99774	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2301	19.9017	0.96988	0.0:1.0:0.0:0.0	.	.	.	.	X	109;109;109;53	.	ENSP00000347102:E109X	E	-	1	0	TLE1	83456996	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	7.818000	0.86416	2.707000	0.92482	0.561000	0.74099	GAA	-	pfam_Groucho/TLE_N		0.448	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	protein_coding	OTTHUMT00000055407.1	C	NM_005077	-		84267176	-1	no_errors	ENST00000376499	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	84267176	C	A	84267176	4	1	10	1	0	0	0	0	0	1	0	0	15945	835	29	3	2047	3	TLE1	9	84267176	Nonsense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	48397697	84267176	56946255	27	800											
OR13D1	286365	genome.wustl.edu	37	chr9	107457047	107457047	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccattcctccaatgcttatTatatttatgtctgagagaaa	5	8	1	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:107457047T>A	ENST00000318763.5	+	1	388	c.345T>A	c.(343-345)atT>atA	p.I115I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CAATGCTTATTATATTTATGT	0.458																																																	0								ENSG00000179055						210	212	211					9																	107457047		2203	4300	6503	OR13D1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.345T>A	9.37:g.107457047T>A		Somatic	0	36	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	37.50	B9EIS1|Q6IFL1	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I115	ENST00000318763.5	37	c.345	CCDS35094.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	protein_coding	OTTHUMT00000053483.1	T		-		107457047	1	no_errors	ENST00000318763	ensembl	human	known	74_37	silent	SNP	0.000	A	A	107457047	T	A	107457047	2	1	10	1	0	0	0	0	0	0	0	1	10942	1742	61	5		5	OR13D1	9	107457047	Silent	SNP	T	TCGA-3B-A9HU-01A-11D-A38Z-09	23189871	107457047	33756384	28	801											
C9orf6	54942	genome.wustl.edu	37	chr9	111701477	111701477	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccgtctcattacacaggGggcacagtttctaacagagc	9	12	2	1	rs370839535		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:111701477G>T	ENST00000322940.6	+	4	569	c.263G>T	c.(262-264)gGg>gTg	p.G88V	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	88						nucleus (GO:0005634)											ATTACACAGGGGGCACAGTTT	0.418																																																	0								ENSG00000119328						85	85	85					9																	111701477		2203	4300	6503	FAM206A	SO:0001630	splice_region_variant	0			-	HGNC	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 6"	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.262-1G>T	9.37:g.111701477G>T		Somatic	0	46	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5JTR0|Q5JTR1	Missense_Mutation	SNP							pfam_GCV_H,superfamily_Single_hybrid_motif	p.G88V	ENST00000322940.6	37	c.263	CCDS6774.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645798	0.87958	.	.	ENSG00000119328	ENST00000322940;ENST00000445175	T;T	0.35973	1.28;1.28	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.72434	-0.4295	10	0.87932	D	0	.	17.8105	0.88614	0.0:0.0:1.0:0.0	.	88	Q9NX38	F206A_HUMAN	V	88;53	ENSP00000363753:G88V;ENSP00000398018:G53V	ENSP00000363753:G88V	G	+	2	0	C9orf6	110741298	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.764000	0.91719	2.809000	0.96659	0.557000	0.71058	GGG	-	superfamily_Single_hybrid_motif		0.418	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	protein_coding	OTTHUMT00000053582.1	G	NM_017832	-	Missense_Mutation	111701477	1	no_errors	ENST00000322940	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111701477	G	T	111701477	5	4	10	1	0	0	0	0	0	0	1	0	2490	1246	43	3	277	3	C9orf6	9	111701477	Splice_Site	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	4244430	111701477	29511954	29	802											
RC3H2	54542	genome.wustl.edu	37	chr9	125627715	125627715	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttcacggtctccagagctCttaaggtactgtcagtacta	8	11	5	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:125627715C>A	ENST00000373670.1	-	9	2147	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	RC3H2_ENST00000357244.2_Missense_Mutation_p.R516I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R516I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	516					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTCCAGAGCTCTTAAGGTACT	0.438																																																	0								ENSG00000056586						128	121	123					9																	125627715		1897	4109	6006	RC3H2	SO:0001583	missense	0			-	HGNC	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1547G>T	9.37:g.125627715C>A	ENSP00000362774:p.Arg516Ile	Somatic	0	116	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	63	29.21	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP							pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R516I	ENST00000373670.1	37	c.1547	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.46819	0.86;0.86;0.88	5.97	5.97	0.96955	.	0.142736	0.56097	D	0.000040	T	0.49287	0.1548	N	0.08118	0	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.71870	0.944;0.975	T	0.52094	-0.8621	10	0.32370	T	0.25	-29.1513	17.5798	0.87963	0.0:1.0:0.0:0.0	.	516;516	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	I	516;516;387;516	ENSP00000362774:R516I;ENSP00000349783:R516I;ENSP00000411767:R516I	ENSP00000349783:R516I	R	-	2	0	RC3H2	124667536	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.194000	0.51005	2.834000	0.97654	0.650000	0.86243	AGA	-	NULL		0.438	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	protein_coding	OTTHUMT00000053966.1	C	NM_018835	-		125627715	-1	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	125627715	C	A	125627715	3	1	10	1	0	0	0	0	1	0	0	0	13175	913	32	3	2154	3	RC3H2	9	125627715	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	13926238	125627715	15585716	30	803											
ZNF503	84858	genome.wustl.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-													tccaggcagggtctgcaccgCcgcctccgcctccgccgccg					rs533859340|rs374168185	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	CCGCCT	CCGCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0		0.006	False		,,,				2504	0.0143																0								ENSG00000165655			455,1781		166,123,829						2.8	0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				ZNF503	SO:0001651	inframe_deletion	0				HGNC	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del	Somatic					0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL							pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.GG26in_frame_del	ENST00000372524.4	37	c.77_72	CCDS7350.1	10																																																																																			-	NULL		0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	protein_coding	OTTHUMT00000048826.1	CCGCCT	NM_032772			77161106	-1	no_errors	ENST00000372524	ensembl	human	known	74_37	in_frame_del	DEL	0.963:0.956:0.985:0.989:0.990:0.996	-	-	77161106	CCGCCT	-	77161101	7	5	10	1	0	1	0	1	0	0	0	0	17958	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-3B-A9HU-01A-11D-A38Z-09		77161101	58373646	31	804											
MUC5B	727897	genome.wustl.edu	37	chr11	1271489	1271489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcactacagccaccgtgaCggtgcccaccggatccacgg	12	16	0	1	rs200985531	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:1271489C>T	ENST00000529681.1	+	31	13437	c.13379C>T	c.(13378-13380)aCg>aTg	p.T4460M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4463M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4460	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)		GCCACCGTGACGGTGCCCACC	0.672													C|||	59	0.0117812	0.0182	0.0072	5008	,	,		19151	0		0.0249	False		,,,				2504	0.0051																0								ENSG00000117983	C	MET/THR	58,3848		0,58,1895	45	53	51		13379	-1.6	0	11		51	8,8168		0,8,4080	no	missense	MUC5B	NM_002458.2	81	0,66,5975	TT,TC,CC		0.0978,1.4849,0.5463	probably-damaging	4460/5763	1271489	66,12016	1953	4088	6041	MUC5B	SO:0001583	missense	0			-	HGNC	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.13379C>T	11.37:g.1271489C>T	ENSP00000436812:p.Thr4460Met	Somatic	0	69	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4463M	ENST00000529681.1	37	c.13388	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	4.282	0.051422	0.08291	0.014849	9.78E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.27890	1.64;1.83	1.61	-1.6	0.08426	.	.	.	.	.	T	0.15696	0.0378	L	0.54323	1.7	0.09310	N	1	D;D	0.60160	0.987;0.987	B;B	0.37650	0.202;0.255	T	0.13019	-1.0525	9	0.87932	D	0	.	5.2016	0.15267	0.2312:0.5423:0.2265:0.0	.	4933;4463	A7Y9J9;E9PBJ0	.;.	M	4460;4463;4404;4310;239	ENSP00000436812:T4460M;ENSP00000415793:T4463M	ENSP00000343037:T4404M	T	+	2	0	MUC5B	1228065	0.011000	0.17503	0.000000	0.03702	0.028000	0.11728	2.803000	0.47924	-0.562000	0.06086	0.121000	0.15741	ACG	-	NULL		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093	rs200985531		1271489	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.001	T	T	1271489	C	T	1271489	3	4	10	1	0	0	0	0	1	0	0	0	9981	536	19	1	13510	1	MUC5B	11	1271489	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		1271489	133735027	32	805											
CHST1	8534	genome.wustl.edu	37	chr11	45671339	45671339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcccagctgggccagcaCctgctggcaggcgttctggg	16	13	1	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:45671339C>T	ENST00000308064.2	-	4	1805	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	379					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGGCCAGCACCTGCTGGCAG	0.662																																																	0								ENSG00000175264						46	49	48					11																	45671339		2202	4297	6499	CHST1	SO:0001583	missense	0			-	HGNC	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1135G>A	11.37:g.45671339C>T	ENSP00000309270:p.Val379Met	Somatic	0	91	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	57	30.49	D3DQP2	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.V379M	ENST00000308064.2	37	c.1135	CCDS7913.1	11	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306888	0.40795	.	.	ENSG00000175264	ENST00000308064	D	0.82711	-1.64	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.139015	0.48767	D	0.000179	T	0.80824	0.4697	L	0.58428	1.81	0.37751	D	0.925979	B	0.33777	0.425	B	0.38020	0.263	T	0.81215	-0.1034	10	0.33141	T	0.24	-25.6381	12.5562	0.56254	0.1665:0.8335:0.0:0.0	.	379	O43916	CHST1_HUMAN	M	379	ENSP00000309270:V379M	ENSP00000309270:V379M	V	-	1	0	CHST1	45627915	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.607000	0.61133	2.099000	0.63709	0.313000	0.20887	GTG	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	protein_coding	OTTHUMT00000390127.1	C	NM_003654	-		45671339	-1	no_errors	ENST00000308064	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45671339	C	T	45671339	3	4	10	1	0	0	0	0	1	0	0	0	3399	507	18	2	104	2	CHST1	11	45671339	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	44399850	45671339	89335177	33	806											
SIDT2	51092	genome.wustl.edu	37	chr11	117053257	117053257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagtatgagttccctgAaggcgtggactcggtaattg	12	8	1	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:117053257A>C	ENST00000324225.4	+	5	1070	c.539A>C	c.(538-540)gAa>gCa	p.E180A	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.E180A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	180					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)		GAGTTCCCTGAAGGCGTGGAC	0.542																																																	0								ENSG00000149577						132	107	116					11																	117053257		2201	4296	6497	SIDT2	SO:0001583	missense	0			-	HGNC	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.539A>C	11.37:g.117053257A>C	ENSP00000314023:p.Glu180Ala	Somatic	0	62	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	Q8NBY7|Q9Y357	Missense_Mutation	SNP							NULL	p.E180A	ENST00000324225.4	37	c.539	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149839	0.78001	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842;ENST00000531353	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.73	4.73	0.59995	.	0.169979	0.50627	D	0.000118	T	0.34774	0.0909	M	0.66939	2.045	0.51012	D	0.999904	B;B;P;B	0.42296	0.38;0.184;0.775;0.433	B;B;P;P	0.45660	0.24;0.035;0.489;0.477	T	0.09487	-1.0672	10	0.33940	T	0.23	-12.9557	14.6587	0.68852	1.0:0.0:0.0:0.0	.	180;180;180;180	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	A	180;180;180;30;79	ENSP00000314023:E180A;ENSP00000278951:E180A;ENSP00000399635:E180A;ENSP00000436983:E30A	ENSP00000278951:E180A	E	+	2	0	SIDT2	116558467	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	6.840000	0.75369	2.118000	0.64928	0.533000	0.62120	GAA	-	NULL		0.542	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	protein_coding	OTTHUMT00000392836.1	A	NM_015996	-		117053257	1	no_errors	ENST00000278951	ensembl	human	known	74_37	missense	SNP	0.996	C	C	117053257	A	C	117053257	3	2	10	1	0	0	0	0	1	0	0	0	14311	246	9	5	557	5	SIDT2	11	117053257	Missense_Mutation	SNP	A	TCGA-3B-A9HU-01A-11D-A38Z-09	71381918	117053257	17953259	34	807											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3736635	3736635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccaccgccggaccgacagGaacgactgcttgtctgtgag	13	13	1	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr12:3736635G>T	ENST00000440314.2	-	17	2372	c.1899C>A	c.(1897-1899)ttC>ttA	p.F633L		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGACCGACAGGAACGACTGCT	0.557																																																	0								ENSG00000130038						70	73	72					12																	3736635		692	1591	2283	EFCAB4B	SO:0001583	missense	0			-	HGNC																												ENST00000440314.2:c.1899C>A	12.37:g.3736635G>T	ENSP00000409382:p.Phe633Leu	Somatic	0	37	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4E1X0|B9EK63	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.F633L	ENST00000440314.2	37	c.1899	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489493	0.84962	.	.	ENSG00000130038	ENST00000440314	T	0.80304	-1.36	5.54	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	.	.	.	0.80722	D	1	B	0.29115	0.233	B	0.29598	0.104	T	0.68716	-0.5335	9	0.87932	D	0	.	7.6046	0.28095	0.2986:0.0:0.7014:0.0	.	633	Q9BSW2-2	.	L	633	ENSP00000409382:F633L	ENSP00000409382:F633L	F	-	3	2	EFCAB4B	3606896	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	2.654000	0.46699	0.611000	0.30052	0.655000	0.94253	TTC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.557	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	protein_coding	OTTHUMT00000398640.2	G		-		3736635	-1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3736635	G	T	3736635	3	4	10	1	0	0	0	0	1	0	0	0	4939	1165	41	3	312	3	EFCAB4B	12	3736635	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09		3736635	130115260	35	808											
ANAPC5	51433	genome.wustl.edu	37	chr12	121766222	121766222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcggagtcctttagggCatccatcagcttgtttgccg	13	10	1	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr12:121766222C>T	ENST00000261819.3	-	10	1322	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	ANAPC5_ENST00000541887.1_Missense_Mutation_p.A388T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A67T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A289T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A289T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	401					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTTAGGGCATCCATCAGC	0.537																																																	0								ENSG00000089053						153	118	130					12																	121766222		2203	4300	6503	ANAPC5	SO:0001583	missense	0			-	HGNC	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1201G>A	12.37:g.121766222C>T	ENSP00000261819:p.Ala401Thr	Somatic	0	47	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP							smart_TPR_repeat	p.A401T	ENST00000261819.3	37	c.1201	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907914	0.92107	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.992;0.997	P;P;P;D	0.65140	0.805;0.851;0.903;0.932	T	0.56848	-0.7911	9	0.12766	T	0.61	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	67;3;289;401	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	289;388;401;67;3;289	.	ENSP00000261819:A401T	A	-	1	0	ANAPC5	120250605	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.077000	0.76814	2.715000	0.92844	0.655000	0.94253	GCC	-	NULL		0.537	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	protein_coding	OTTHUMT00000402582.1	C		-		121766222	-1	no_errors	ENST00000261819	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121766222	C	T	121766222	3	4	10	1	0	0	0	0	1	0	0	0	605	710	25	2	1098	2	ANAPC5	12	121766222	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	118029587	121766222	12085673	36	809											
CLMN	79789	genome.wustl.edu	37	chr14	95669657	95669657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccacaccctggaggtcatCgtcttctccctcttcctcat	6	18	5	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr14:95669657C>T	ENST00000298912.4	-	9	2142	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	677					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGAGGTCATCGTCTTCTCCC	0.537																																																	0								ENSG00000165959						102	92	95					14																	95669657		2203	4300	6503	CLMN	SO:0001583	missense	0			-	HGNC	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2029G>A	14.37:g.95669657C>T	ENSP00000298912:p.Asp677Asn	Somatic	0	28	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D677N	ENST00000298912.4	37	c.2029	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035884	0.35893	.	.	ENSG00000165959	ENST00000298912	D	0.93019	-3.15	5.17	1.07	0.20283	.	0.773236	0.10952	N	0.615954	D	0.84999	0.5597	L	0.29908	0.895	0.09310	N	1	P	0.44006	0.824	B	0.33121	0.158	T	0.73186	-0.4062	10	0.26408	T	0.33	.	8.8266	0.35059	0.0:0.4806:0.4345:0.0848	.	677	Q96JQ2	CLMN_HUMAN	N	677	ENSP00000298912:D677N	ENSP00000298912:D677N	D	-	1	0	CLMN	94739410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.277000	0.18734	0.243000	0.21327	-0.181000	0.13052	GAT	-	NULL		0.537	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	protein_coding	OTTHUMT00000414518.2	C		-		95669657	-1	no_errors	ENST00000298912	ensembl	human	known	74_37	missense	SNP	0.000	T	T	95669657	C	T	95669657	3	4	10	1	0	0	0	0	1	0	0	0	3544	884	31	1	999	1	CLMN	14	95669657	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		95669657	11679883	37	810											
TP53	7157	genome.wustl.edu	37	chr17	7577498	7577498	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcaagtggctcctgaCctggagtcttccagtgtgat	15	9	1	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_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.?(29)|p.0?(8)|p.E258fs*71(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)	TGGCTCCTGACCTGGAGTCTT	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)						ENSG00000141510						121	85	97					17																	7577498		2203	4300	6503	TP53	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;	-	HGNC	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.782+1G>A	17.37:g.7577498C>T		Somatic	0	26	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	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.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	-	-		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7577498	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	7577498	C	T	7577498	5	4	10	1	0	0	0	0	0	0	1	0	16388	521	18	2	507	2	TP53	17	7577498	Splice_Site	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		7577498	73617712	38	811											
MYH10	4628	genome.wustl.edu	37	chr17	8422225	8422225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcacaggcctgtttaccatCcataaaacctttaggaatag	6	10	1	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:8422225C>A	ENST00000269243.4	-	18	2362	c.2224G>T	c.(2224-2226)Gat>Tat	p.D742Y	MYH10_ENST00000379980.4_Missense_Mutation_p.D758Y|MYH10_ENST00000360416.3_Missense_Mutation_p.D773Y|MYH10_ENST00000396239.1_Missense_Mutation_p.D763Y	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	742	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTTTACCATCCATAAAACCT	0.308																																																	0								ENSG00000133026						88	84	86					17																	8422225		2203	4300	6503	MYH10	SO:0001583	missense	0			-	HGNC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2224G>T	17.37:g.8422225C>A	ENSP00000269243:p.Asp742Tyr	Somatic	0	141	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	111	32.73	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D763Y	ENST00000269243.4	37	c.2287	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536059	0.85812	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.88664	-0.83;-0.83;-2.41;-0.83	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	H	0.98525	4.255	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	0.98581	1.0650	10	0.87932	D	0	.	18.417	0.90574	0.0:1.0:0.0:0.0	.	751;773;742	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Y	742;773;763;758	ENSP00000269243:D742Y;ENSP00000353590:D773Y;ENSP00000379539:D763Y;ENSP00000369315:D758Y	ENSP00000269243:D742Y	D	-	1	0	MYH10	8362950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.574000	0.86865	0.650000	0.86243	GAT	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.308	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	protein_coding	OTTHUMT00000227001.2	C		-		8422225	-1	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8422225	C	A	8422225	3	1	10	1	0	0	0	0	1	0	0	0	10032	855	30	3	3802	3	MYH10	17	8422225	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	844727	8422225	72772985	39	812											
ADAM11	4185	genome.wustl.edu	37	chr17	42852679	42852679	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcaacaagcccctcaaGgtaccagccccgcggcgggg	11	17	3	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:42852679G>T	ENST00000200557.6	+	15	1489	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	ADAM11_ENST00000535346.1_Splice_Site_p.K240N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	440					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)				AGCCCCTCAAGGTACCAGCCC	0.677																																																	0								ENSG00000073670						45	50	48					17																	42852679		2203	4300	6503	ADAM11	SO:0001630	splice_region_variant	0			-	HGNC	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.1320+1G>T	17.37:g.42852679G>T		Somatic	0	61	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	57	24.00	Q14808|Q14809|Q14810	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K440N	ENST00000200557.6	37	c.1320	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.300637	0.95601	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.02395	4.31;4.76	4.62	4.62	0.57501	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.01401	-1.1364	10	0.42905	T	0.14	.	16.3861	0.83504	0.0:0.0:1.0:0.0	.	240;440	B4DKD2;O75078	.;ADA11_HUMAN	N	440;240;340	ENSP00000200557:K440N;ENSP00000443773:K240N	ENSP00000200557:K440N	K	+	3	2	ADAM11	40208205	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.164000	0.71885	2.402000	0.81655	0.549000	0.68633	AAG	-	NULL		0.677	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	protein_coding	OTTHUMT00000444531.1	G	NM_002390	-	Missense_Mutation	42852679	1	no_errors	ENST00000200557	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42852679	G	T	42852679	5	4	10	1	0	0	0	0	0	0	1	0	235	1014	35	3	1378	3	ADAM11	17	42852679	Splice_Site	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	34430454	42852679	38342531	40	813											
RNF125	54941	genome.wustl.edu	37	chr18	29648343	29648343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatcactcgaacaccaCataattttattaaaacgaag	5	8	1	1			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr18:29648343C>A	ENST00000217740.3	+	6	1187	c.695C>A	c.(694-696)aCa>aAa	p.T232K	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	232				T -> A (in Ref. 2; AAH12021). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCGAACACCACATAATTTTAT	0.363																																																	0								ENSG00000101695						50	53	52					18																	29648343		2202	4300	6502	RNF125	SO:0001583	missense	0			-	HGNC	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.695C>A	18.37:g.29648343C>A	ENSP00000217740:p.Thr232Lys	Somatic	0	114	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	59	39.18	Q9NX39	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T232K	ENST00000217740.3	37	c.695	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577981	0.65878	.	.	ENSG00000101695	ENST00000217740	D	0.82803	-1.65	5.89	4.97	0.65823	.	0.106709	0.42294	D	0.000730	T	0.67776	0.2929	N	0.08118	0	0.28831	N	0.897141	B	0.27853	0.191	B	0.26770	0.073	T	0.66638	-0.5873	10	0.72032	D	0.01	-4.6131	12.1949	0.54292	0.0:0.8289:0.1711:0.0	.	232	Q96EQ8	RN125_HUMAN	K	232	ENSP00000217740:T232K	ENSP00000217740:T232K	T	+	2	0	RNF125	27902341	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	1.511000	0.35801	2.783000	0.95769	0.655000	0.94253	ACA	-	NULL		0.363	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	protein_coding	OTTHUMT00000255354.1	C	NM_017831	-		29648343	1	no_errors	ENST00000217740	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29648343	C	A	29648343	3	1	10	1	0	0	0	0	1	0	0	0	13442	478	17	3	717	3	RNF125	18	29648343	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		29648343	48428905	41	814											
COL5A3	50509	genome.wustl.edu	37	chr19	10083634	10083634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctctccagggggacctttCttgcctgggggtccagcagc	13	14	2	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10083634C>G	ENST00000264828.3	-	51	3820	c.3735G>C	c.(3733-3735)aaG>aaC	p.K1245N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1245	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)			GGGGACCTTTCTTGCCTGGGG	0.597																																																	0								ENSG00000080573						41	33	36					19																	10083634		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.3735G>C	19.37:g.10083634C>G	ENSP00000264828:p.Lys1245Asn	Somatic	0	79	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	66	25.00	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K1245N	ENST00000264828.3	37	c.3735	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397330	0.42512	.	.	ENSG00000080573	ENST00000264828	D	0.96587	-4.06	4.73	2.56	0.30785	.	0.411149	0.23016	U	0.052917	D	0.92737	0.7691	N	0.16567	0.415	0.28697	N	0.904265	D	0.67145	0.996	P	0.53649	0.731	D	0.87248	0.2271	10	0.18710	T	0.47	.	9.194	0.37217	0.0:0.8186:0.0:0.1814	.	1245	P25940	CO5A3_HUMAN	N	1245	ENSP00000264828:K1245N	ENSP00000264828:K1245N	K	-	3	2	COL5A3	9944634	0.240000	0.23847	1.000000	0.80357	0.984000	0.73092	-0.176000	0.09811	0.587000	0.29643	0.561000	0.74099	AAG	-	NULL		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719	-		10083634	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10083634	C	G	10083634	3	3	10	1	0	0	0	0	1	0	0	0	3700	912	32	4	1570	4	COL5A3	19	10083634	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		10083634	49045349	42	815											
ICAM5	7087	genome.wustl.edu	37	chr19	10401797	10401797	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagcctcgcgtggcgttCgtggagcgcgggggctcgct	18	13	0	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10401797C>T	ENST00000221980.4	+	2	195	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	44					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGTGGCGTTCGTGGAGCGCG	0.697																																																	0								ENSG00000105376						15	17	16					19																	10401797		2190	4270	6460	ICAM5	SO:0001819	synonymous_variant	0			-	HGNC	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.132C>T	19.37:g.10401797C>T		Somatic	0	61	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	Q9Y6F3	Silent	SNP							pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.F44	ENST00000221980.4	37	c.132	CCDS12233.1	19																																																																																			-	pfam_ICAM_N,prints_ICAM_VCAM_N		0.697	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	protein_coding	OTTHUMT00000451217.1	C	NM_003259	-		10401797	1	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	SNP	0.963	T	T	10401797	C	T	10401797	2	4	10	1	0	0	0	0	0	0	0	1	7485	883	31	1		1	ICAM5	19	10401797	Silent	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	318163	10401797	48727186	43	816											
RAVER1	3385	genome.wustl.edu	37	chr19	10444141	10444141	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcggccccagacttagGgctcagcgggggccggtgag	17	12	1	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10444141G>A	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Missense_Mutation_p.P32S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCAGACTTAGGGCTCAGCGGG	0.692																																																	0								ENSG00000161847						24	30	28					19																	10444141		1833	4065	5898	RAVER1	SO:0001628	intergenic_variant	0			-	HGNC		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444141G>A		Somatic	0	55	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	Q6PD68	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P32S	ENST00000160262.5	37	c.94	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608848	0.87258	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.11604	2.76	4.64	4.64	0.57946	.	0.284658	0.31601	N	0.007361	T	0.18087	0.0434	N	0.19112	0.55	0.36691	D	0.8796	D	0.63880	0.993	D	0.72982	0.979	T	0.12116	-1.0560	10	0.44086	T	0.13	-41.851	13.455	0.61193	0.0:0.0:1.0:0.0	.	32	E9PAU2	.	S	32;15	ENSP00000293677:P32S	ENSP00000293677:P32S	P	-	1	0	RAVER1	10305141	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.839000	0.62810	2.328000	0.79073	0.549000	0.68633	CCT	-	NULL		0.692	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	protein_coding	OTTHUMT00000451234.1	G		-		10444141	-1	no_errors	ENST00000293677	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10444141	G	A	10444141	1	1	10	0	1	0	0	0	0	0	0	0	13102	1232	43	2		2	RAVER1	19	10444141	IGR	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	42344	10444141	48684842	44	817											
DSCAM	1826	genome.wustl.edu	37	chr21	41385063	41385063	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcattttagctgcctgtccCagctctgctccctcccgctg	7	18	2	0			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr21:41385063C>G	ENST00000400454.1	-	33	6414	c.5937G>C	c.(5935-5937)ctG>ctC	p.L1979L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1979				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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)				CTGCCTGTCCCAGCTCTGCTC	0.587																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						48	48	48					21																	41385063		1954	4150	6104	DSCAM	SO:0001819	synonymous_variant	0			-	HGNC	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.5937G>C	21.37:g.41385063C>G		Somatic	0	56	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	33	45.00	O60468	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1979	ENST00000400454.1	37	c.5937	CCDS42929.1	21																																																																																			-	NULL		0.587	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41385063	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	1.000	G	G	41385063	C	G	41385063	2	3	10	1	0	0	0	0	0	0	0	1	4770	581	21	4		4	DSCAM	21	41385063	Silent	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09		41385063	6744832	45	818											
KRTAP12-2	353323	genome.wustl.edu	37	chr21	46086662	46086662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggctggcttgaagctcaCgggcacacacacggaggact	13	13	1	1	rs200766354		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr21:46086662C>T	ENST00000360770.3	-	1	182	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	48	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.V48M(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5						TTGAAGCTCACGGGCACACAC	0.657																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000221864	C	,MET/VAL	0,4376		0,0,2188	63	71	68		,142	-1.7	0	21		68	1,8561		0,1,4280	no	intron,missense	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,21	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	,possibly-damaging	,48/147	46086662	1,12937	2188	4281	6469	KRTAP12-2	SO:0001583	missense	0			-	HGNC	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.142G>A	21.37:g.46086662C>T	ENSP00000354001:p.Val48Met	Somatic	0	39	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP							pfam_KRTAP_PMG	p.V48M	ENST00000360770.3	37	c.142	CCDS42965.1	21	.	.	.	.	.	.	.	.	.	.	c	5.622	0.299395	0.10622	0.0	1.17E-4	ENSG00000221864	ENST00000360770	T	0.03035	4.07	2.57	-1.72	0.08107	.	.	.	.	.	T	0.04318	0.0119	M	0.69248	2.105	0.09310	N	1	B	0.24618	0.107	B	0.22386	0.039	T	0.43147	-0.9409	9	0.72032	D	0.01	.	0.9803	0.01434	0.169:0.2665:0.3333:0.2311	.	48	P59991	KR122_HUMAN	M	48	ENSP00000354001:V48M	ENSP00000354001:V48M	V	-	1	0	KRTAP12-2	44911090	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.566000	0.02148	-0.472000	0.06881	-1.474000	0.01003	GTG	-	pfam_KRTAP_PMG		0.657	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	protein_coding	OTTHUMT00000128039.1	C	NM_181684	rs200766354		46086662	-1	no_errors	ENST00000360770	ensembl	human	known	74_37	missense	SNP	0.000	T	T	46086662	C	T	46086662	3	4	10	1	0	0	0	0	1	0	0	0	8521	536	19	1	302	1	KRTAP12-2	21	46086662	Missense_Mutation	SNP	C	TCGA-3B-A9HU-01A-11D-A38Z-09	4701599	46086662	2043233	46	819											
CABIN1	23523	genome.wustl.edu	37	chr22	24563248	24563248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacctgggccgtgtggagagGatcatgtcggagacctacat	15	9	1	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr22:24563248G>T	ENST00000398319.2	+	32	6034	c.5649G>T	c.(5647-5649)agG>agT	p.R1883S	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Missense_Mutation_p.R1804S|CABIN1_ENST00000337989.7_Missense_Mutation_p.R308S|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1883S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1883					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTGTGGAGAGGATCATGTCGG	0.592																																																	0								ENSG00000099991						61	57	58					22																	24563248		2201	4300	6501	CABIN1	SO:0001583	missense	0			-	HGNC	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5649G>T	22.37:g.24563248G>T	ENSP00000381364:p.Arg1883Ser	Somatic	0	26	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP							pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1883S	ENST00000398319.2	37	c.5649	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967469	0.53507	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.01	1.8	0.24995	.	0.113641	0.56097	D	0.000021	T	0.50803	0.1637	N	0.08118	0	0.27470	N	0.952893	B;B;B	0.34015	0.435;0.167;0.104	B;B;B	0.24974	0.057;0.053;0.024	T	0.43180	-0.9407	10	0.32370	T	0.25	.	7.5893	0.28012	0.3297:0.0:0.6703:0.0	.	308;1804;1883	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	S	1883;1804;1883;308;308	ENSP00000263119:R1883S;ENSP00000384694:R1804S;ENSP00000381364:R1883S;ENSP00000336991:R308S	ENSP00000263119:R1883S	R	+	3	2	CABIN1	22893248	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.263000	0.43293	0.258000	0.21686	0.558000	0.71614	AGG	-	NULL		0.592	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	protein_coding	OTTHUMT00000320161.2	G	NM_012295	-		24563248	1	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24563248	G	T	24563248	3	4	10	1	0	0	0	0	1	0	0	0	2530	1165	41	3	5771	3	CABIN1	22	24563248	Missense_Mutation	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09		24563248	26741318	47	820											
GPR64	10149	genome.wustl.edu	37	chrX	19014264	19014264	+	Frame_Shift_Del	DEL	A	A	-													cacagtaaaagatgaatatgAaaaatcctaaggagggaaaa							TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chrX:19014264delA	ENST00000379869.3	-	27	2784	c.2621delT	c.(2620-2622)ttcfs	p.F874fs	GPR64_ENST00000356606.4_Frame_Shift_Del_p.F860fs|GPR64_ENST00000360279.4_Frame_Shift_Del_p.F852fs|GPR64_ENST00000340581.3_Frame_Shift_Del_p.F755fs|GPR64_ENST00000357544.3_Frame_Shift_Del_p.F844fs|GPR64_ENST00000357991.3_Frame_Shift_Del_p.F871fs|GPR64_ENST00000354791.3_Frame_Shift_Del_p.F858fs|GPR64_ENST00000379878.3_Frame_Shift_Del_p.F858fs|GPR64_ENST00000379873.2_Frame_Shift_Del_p.F874fs|GPR64_ENST00000379876.1_Frame_Shift_Del_p.F850fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	874					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GATGAATATGAAAAATCCTAA	0.363																																																	0								ENSG00000173698						86	88	87					X																	19014264		2203	4300	6503	GPR64	SO:0001589	frameshift_variant	0				HGNC	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2621delT	X.37:g.19014264delA	ENSP00000369198:p.Phe874fs	Somatic	0	257	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	342	16.79	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Del	DEL							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F874fs	ENST00000379869.3	37	c.2621	CCDS43923.1	X																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.363	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	protein_coding	OTTHUMT00000055970.2	A				19014264	-1	no_errors	ENST00000379869	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	19014264	A	-	19014264	7	5	10	1	0	1	0	1	0	0	0	0	6707	246	9	0	444	0	GPR64	23	19014264	Frame_Shift_Del	DEL	A	TCGA-3B-A9HU-01A-11D-A38Z-09		19014264	136256296	48	821											
FLNA	2316	genome.wustl.edu	37	chrX	153590144	153590144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccataagtgacattgacGcctactggaccctgggaagg	11	12	0	2			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chrX:153590144G>A	ENST00000369850.3	-	20	3074	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	FLNA_ENST00000422373.1_Silent_p.G946G|FLNA_ENST00000344736.4_Silent_p.G946G|FLNA_ENST00000360319.4_Silent_p.G946G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	946					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TGACATTGACGCCTACTGGAC	0.572																																																	0								ENSG00000196924						72	69	70					X																	153590144		1933	4112	6045	FLNA	SO:0001819	synonymous_variant	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2838C>T	X.37:g.153590144G>A		Somatic	0	37	0		0.596012637960411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G946	ENST00000369850.3	37	c.2838	CCDS48194.1	X																																																																																			-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	G		-		153590144	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	SNP	0.001	A	A	153590144	G	A	153590144	2	1	10	1	0	0	0	0	0	0	0	1	5935	1074	38	1		1	FLNA	23	153590144	Silent	SNP	G	TCGA-3B-A9HU-01A-11D-A38Z-09	134575880	153590144	1680416	49	822											
AMPD1	270	genome.wustl.edu	37	chr1	115215870	115215870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccttcctcaaggtaattGtcgcccagaaactttacttt	8	11	1	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr1:115215870G>A	ENST00000520113.2	-	16	2223	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	AMPD1_ENST00000369538.3_Silent_p.D732D|AMPD1_ENST00000353928.6_Silent_p.D703D			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	736					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	CAAGGTAATTGTCGCCCAGAA	0.418																																																	0								ENSG00000116748						76	74	74					1																	115215870		2203	4300	6503	AMPD1	SO:0001819	synonymous_variant	0			-	HGNC	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2208C>T	1.37:g.115215870G>A		Somatic	0	72	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.54	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP							pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.D736	ENST00000520113.2	37	c.2208	CCDS876.2	1																																																																																			-	pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	protein_coding	OTTHUMT00000032860.4	G		-		115215870	-1	no_errors	ENST00000520113	ensembl	human	known	74_37	silent	SNP	0.000	A	A	115215870	G	A	115215870	2	1	11	1	0	0	0	0	0	0	0	1	585	1368	48	2		2	AMPD1	1	115215870	Silent	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		115215870	134034751	1	823											
ADAM30	11085	genome.wustl.edu	37	chr1	120437108	120437108	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacgcaattttttttaaaacAtacccggccttctccacagg	6	12	1	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr1:120437108A>T	ENST00000369400.1	-	1	2010	c.1852T>A	c.(1852-1854)Tgt>Agt	p.C618S		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	618	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTTTAAAACATACCCGGCCT	0.458																																																	0								ENSG00000134249						63	64	63					1																	120437108		2203	4300	6503	ADAM30	SO:0001583	missense	0			-	HGNC	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1852T>A	1.37:g.120437108A>T	ENSP00000358407:p.Cys618Ser	Somatic	0	37	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.C618S	ENST00000369400.1	37	c.1852	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.132855	0.56828	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.03124	4.04	5.16	5.16	0.70880	ADAM, cysteine-rich (1);	0.000000	0.51477	D	0.000098	T	0.17577	0.0422	H	0.96889	3.9	0.20638	N	0.999878	D	0.67145	0.996	D	0.76575	0.988	T	0.40813	-0.9543	10	0.87932	D	0	.	11.3219	0.49428	1.0:0.0:0.0:0.0	.	618	Q9UKF2	ADA30_HUMAN	S	618	ENSP00000358407:C618S	ENSP00000358407:C618S	C	-	1	0	ADAM30	120238631	0.926000	0.31397	0.129000	0.21949	0.010000	0.07245	4.058000	0.57463	2.166000	0.68216	0.533000	0.62120	TGT	-	smart_ADAM_Cys-rich		0.458	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	protein_coding	OTTHUMT00000033678.1	A	NM_021794	-		120437108	-1	no_errors	ENST00000369400	ensembl	human	known	74_37	missense	SNP	0.377	T	T	120437108	A	T	120437108	3	4	11	1	0	0	0	0	1	0	0	0	248	217	8	5	524	5	ADAM30	1	120437108	Missense_Mutation	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09	5221238	120437108	128813513	2	824											
FLAD1	80308	genome.wustl.edu	37	chr1	154965395	154965395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatacacatcactggggaGtcgggagaataccgtgcgga	14	9	1	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr1:154965395G>T	ENST00000292180.3	+	7	1968	c.1646G>T	c.(1645-1647)aGt>aTt	p.S549I	FLAD1_ENST00000405236.2_3'UTR|FLAD1_ENST00000368428.1_Missense_Mutation_p.S90I|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000368432.1_3'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.S452I|FLAD1_ENST00000295530.2_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	549	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			TCACTGGGGAGTCGGGAGAAT	0.592																																																	0								ENSG00000160688						65	58	61					1																	154965395		2203	4300	6503	FLAD1	SO:0001583	missense	0			-	HGNC		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1646G>T	1.37:g.154965395G>T	ENSP00000292180:p.Ser549Ile	Somatic	0	31	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP							pfam_PAPS_reduct	p.S90I	ENST00000292180.3	37	c.269	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871379	0.72065	.	.	ENSG00000160688	ENST00000315144;ENST00000292180;ENST00000368428	.	.	.	4.96	4.96	0.65561	Phosphoadenosine phosphosulphate reductase (1);	0.042990	0.85682	D	0.000000	T	0.71451	0.3341	M	0.81112	2.525	0.80722	D	1	D	0.55385	0.971	P	0.54759	0.76	T	0.76443	-0.2957	9	0.72032	D	0.01	-12.4013	17.9901	0.89166	0.0:0.0:1.0:0.0	.	549	Q8NFF5	FAD1_HUMAN	I	452;549;90	.	ENSP00000292180:S549I	S	+	2	0	FLAD1	153232019	1.000000	0.71417	0.963000	0.40424	0.169000	0.22640	8.641000	0.91032	2.599000	0.87857	0.511000	0.50034	AGT	-	pfam_PAPS_reduct		0.592	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	protein_coding	OTTHUMT00000091089.1	G	NM_025207	-		154965395	1	no_errors	ENST00000368428	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	154965395	G	T	154965395	3	4	11	1	0	0	0	0	1	0	0	0	5922	1029	36	3	1816	3	FLAD1	1	154965395	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	34528287	154965395	94285226	3	825											
NTRK1	4914	genome.wustl.edu	37	chr1	156843634	156843634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaaccagcccacccacGtcaacaacggcaactacacg	6	19	2	0	rs201035170	byFrequency	TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr1:156843634G>A	ENST00000524377.1	+	8	1101	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	NTRK1_ENST00000368196.3_Missense_Mutation_p.V354I|NTRK1_ENST00000358660.3_Missense_Mutation_p.V354I|NTRK1_ENST00000392302.2_Missense_Mutation_p.V324I	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	354	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GCCCACCCACGTCAACAACGG	0.612			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			G|||	2	0.000399361	8e-04	0	5008	,	,		19377	0.001		0	False		,,,				2504	0							Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0								ENSG00000198400						76	49	58					1																	156843634		2203	4299	6502	NTRK1	SO:0001583	missense	0			GMAF=0	HGNC	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1060G>A	1.37:g.156843634G>A	ENSP00000431418:p.Val354Ile	Somatic	0	144	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	33	44.07	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.V354I	ENST00000524377.1	37	c.1060	CCDS1161.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.79	2.043891	0.36085	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.17	5.26	0.73747	Immunoglobulin-like fold (1);	0.110622	0.40222	N	0.001155	T	0.11110	0.0271	L	0.36672	1.1	0.45528	D	0.998488	B;B;B;B	0.30511	0.054;0.282;0.273;0.066	B;B;B;B	0.17098	0.017;0.007;0.013;0.011	T	0.05468	-1.0883	10	0.23302	T	0.38	.	14.328	0.66532	0.0711:0.0:0.9289:0.0	.	354;354;354;324	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	I	324;354;354;354	ENSP00000376120:V324I;ENSP00000357179:V354I;ENSP00000431418:V354I;ENSP00000351486:V354I	ENSP00000351486:V354I	V	+	1	0	NTRK1	155110258	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.069000	0.41481	1.627000	0.50400	0.655000	0.94253	GTC	-	prints_Tyr_kinase_NGF_rcpt		0.612	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	protein_coding	OTTHUMT00000392279.1	G	NM_002529	rs201035170		156843634	1	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	SNP	1.000	A	A	156843634	G	A	156843634	3	1	11	1	0	0	0	0	1	0	0	0	10708	1145	40	1	1220	1	NTRK1	1	156843634	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	1878239	156843634	92406987	4	826											
FCRL2	79368	genome.wustl.edu	37	chr1	157738333	157738333	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacagggaacgctgggTtttctttcccatactggttc	11	10	1	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr1:157738333T>A	ENST00000361516.3	-	5	802	c.754A>T	c.(754-756)Acc>Tcc	p.T252S	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.T252S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	252	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAACGCTGGGTTTTCTTTCCC	0.517																																																	0								ENSG00000132704						182	180	181					1																	157738333		2203	4300	6503	FCRL2	SO:0001583	missense	0			-	HGNC	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.754A>T	1.37:g.157738333T>A	ENSP00000355157:p.Thr252Ser	Somatic	0	43	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	24	44.19	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T252S	ENST00000361516.3	37	c.754	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117018	0.37339	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.11712	2.75;2.75	3.83	2.67	0.31697	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.590193	0.14008	N	0.347683	T	0.01730	0.0055	N	0.13140	0.3	0.09310	N	1	B;P	0.37207	0.169;0.587	B;B	0.37091	0.124;0.241	T	0.45469	-0.9259	10	0.20519	T	0.43	.	6.5246	0.22295	0.2144:0.0:0.0:0.7856	.	252;252	B4DVJ9;Q96LA5	.;FCRL2_HUMAN	S	252	ENSP00000355157:T252S;ENSP00000376100:T252S	ENSP00000355157:T252S	T	-	1	0	FCRL2	156004957	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	0.228000	0.17814	0.612000	0.30071	0.533000	0.62120	ACC	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.517	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	protein_coding	OTTHUMT00000051408.2	T	NM_030764	-		157738333	-1	no_errors	ENST00000361516	ensembl	human	known	74_37	missense	SNP	0.002	A	A	157738333	T	A	157738333	3	1	11	1	0	0	0	0	1	0	0	0	5797	1725	60	5	804	5	FCRL2	1	157738333	Missense_Mutation	SNP	T	TCGA-3B-A9HV-01A-11D-A38Z-09	894699	157738333	91512288	5	827											
TTC30B	150737	genome.wustl.edu	37	chr2	178417356	178417356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctagcagcgacaggccggCgcggctcctagggctccgct	15	16	0	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr2:178417356C>T	ENST00000408939.3	-	1	386	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	46					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GACAGGCCGGCGCGGCTCCTA	0.682																																																	0								ENSG00000196659						5	6	6					2																	178417356		2110	4177	6287	TTC30B	SO:0001583	missense	0			-	HGNC	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.136G>A	2.37:g.178417356C>T	ENSP00000386181:p.Ala46Thr	Somatic	0	104	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	47.54	Q63HQ1|Q96NE6	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR-contain_dom	p.A46T	ENST00000408939.3	37	c.136	CCDS42784.1	2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917398	0.52546	.	.	ENSG00000196659	ENST00000408939	T	0.78364	-1.17	4.6	3.71	0.42584	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049900	0.85682	D	0.000000	D	0.88325	0.6406	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.89024	0.3437	10	0.42905	T	0.14	.	14.3878	0.66958	0.1491:0.8509:0.0:0.0	.	46	Q8N4P2	TT30B_HUMAN	T	46	ENSP00000386181:A46T	ENSP00000386181:A46T	A	-	1	0	TTC30B	178125602	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	5.150000	0.64869	1.265000	0.44215	-0.182000	0.12963	GCC	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.682	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	protein_coding	OTTHUMT00000334193.2	C	NM_152517	-		178417356	-1	no_errors	ENST00000408939	ensembl	human	known	74_37	missense	SNP	1.000	T	T	178417356	C	T	178417356	3	4	11	1	0	0	0	0	1	0	0	0	16706	768	27	1	1865	1	TTC30B	2	178417356	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09		178417356	64782017	6	828											
TBC1D5	9779	genome.wustl.edu	37	chr3	17208291	17208291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacatttgaacgctctGgccttggcctcggccctggc	11	16	1	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr3:17208291G>T	ENST00000253692.7	-	21	3726	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	TBC1D5_ENST00000429383.4_Missense_Mutation_p.Q688K|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.Q710K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	688						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGAACGCTCTGGCCTTGGCCT	0.507																																																	0								ENSG00000131374						106	96	100					3																	17208291		2203	4300	6503	TBC1D5	SO:0001583	missense	0			-	HGNC	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2062C>A	3.37:g.17208291G>T	ENSP00000253692:p.Gln688Lys	Somatic	0	59	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	A6NP25|C9JP52	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q688K	ENST00000253692.7	37	c.2062	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320938	0.01320	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.36340	1.26;1.26;1.26	2.59	-0.183	0.13284	.	0.675008	0.12651	U	0.450458	T	0.15869	0.0382	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23806	0.0;0.091;0.091	B;B;B	0.16289	0.002;0.015;0.015	T	0.30208	-0.9986	10	0.06757	T	0.87	4.6128	8.231	0.31597	0.0:0.614:0.386:0.0	.	710;688;688	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	K	688;688;710	ENSP00000253692:Q688K;ENSP00000398127:Q688K;ENSP00000402935:Q710K	ENSP00000253692:Q688K	Q	-	1	0	TBC1D5	17183295	0.570000	0.26651	0.006000	0.13384	0.053000	0.15095	1.583000	0.36579	0.183000	0.20059	0.313000	0.20887	CAG	-	NULL		0.507	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	protein_coding	OTTHUMT00000340301.3	G	NM_014744	-		17208291	-1	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	SNP	0.001	T	T	17208291	G	T	17208291	3	4	11	1	0	0	0	0	1	0	0	0	15630	1357	47	3	333	3	TBC1D5	3	17208291	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		17208291	180814139	7	829											
ETV5	2119	genome.wustl.edu	37	chr3	185823486	185823486	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacaggccgccctctgcattCctcagatcgagatttctgaa	8	14	3	3			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr3:185823486C>A	ENST00000306376.5	-	3	307	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	DGKG_ENST00000447054.1_5'UTR|ETV5_ENST00000537818.1_Nonsense_Mutation_p.E63*|ETV5_ENST00000434744.1_Nonsense_Mutation_p.E21*	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	21					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CCTCTGCATTCCTCAGATCGA	0.463			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0								ENSG00000244405						96	94	94					3																	185823486		2203	4300	6503	ETV5	SO:0001587	stop_gained	0			-	HGNC	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.61G>T	3.37:g.185823486C>A	ENSP00000306894:p.Glu21*	Somatic	0	91	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	46	47.13	A6NH46|B7Z7D7|Q6IBN5	Nonsense_Mutation	SNP							pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.E63*	ENST00000306376.5	37	c.187	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.867951	0.97043	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	.	.	.	5.71	5.71	0.89125	.	0.499554	0.22290	N	0.062015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.7708	0.85537	0.0:1.0:0.0:0.0	.	.	.	.	X	21;21;63;21;21;21;21	.	ENSP00000306894:E21X	E	-	1	0	ETV5	187306180	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.081000	0.50120	2.699000	0.92147	0.462000	0.41574	GAA	-	pfam_ETS_PEA3_N		0.463	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	protein_coding	OTTHUMT00000344947.1	C	NM_004454	-		185823486	-1	no_errors	ENST00000537818	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	185823486	C	A	185823486	4	1	11	1	0	0	0	0	0	1	0	0	5284	864	30	3	1515	3	ETV5	3	185823486	Nonsense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	168615195	185823486	12198944	8	830											
SHISA3	152573	genome.wustl.edu	37	chr4	42403180	42403180	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactccgcagctatcagacAgagaccctgcccatgatcct	7	16	2	3			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr4:42403180A>C	ENST00000319234.4	+	2	647	c.429A>C	c.(427-429)acA>acC	p.T143T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	143					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCTATCAGACAGAGACCCTGC	0.612																																																	0								ENSG00000178343						166	177	173					4																	42403180		2203	4300	6503	SHISA3	SO:0001819	synonymous_variant	0			-	HGNC	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.429A>C	4.37:g.42403180A>C		Somatic	0	50	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	A0PJX3|Q96EQ5	Silent	SNP							NULL	p.T143	ENST00000319234.4	37	c.429	CCDS33979.1	4																																																																																			-	NULL		0.612	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA3	protein_coding	OTTHUMT00000363539.1	A	NM_001080505	-		42403180	1	no_errors	ENST00000319234	ensembl	human	known	74_37	silent	SNP	0.574	C	C	42403180	A	C	42403180	2	2	11	1	0	0	0	0	0	0	0	1	14289	175	7	5		5	SHISA3	4	42403180	Silent	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09		42403180	148751096	9	831											
ADAD1	132612	genome.wustl.edu	37	chr4	123336640	123336643	+	Frame_Shift_Del	DEL	TCAT	TCAT	-													ttttacttagtcaacagaccTcatattagtttagtaccctc					rs370284014		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	TCAT	TCAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr4:123336640_123336643delTCAT	ENST00000296513.2	+	11	1541_1544	c.1356_1359delTCAT	c.(1354-1359)cctcatfs	p.PH452fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.PH441fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.PH434fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	452	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCAACAGACCTCATATTAGTTTAG	0.387																																																	0								ENSG00000164113																																			ADAD1	SO:0001589	frameshift_variant	0				HGNC	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1356_1359delTCAT	4.37:g.123336640_123336643delTCAT	ENSP00000296513:p.Pro452fs	Somatic	0	62	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	40	41.18	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.H453fs	ENST00000296513.2	37	c.1356_1359	CCDS34058.1	4																																																																																			-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.387	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	protein_coding	OTTHUMT00000316452.1	TCAT	NM_139243			123336643	1	no_errors	ENST00000296513	ensembl	human	known	74_37	frame_shift_del	DEL	0.990:0.786:0.774:0.473	-	-	123336643	TCAT	-	123336640	7	5	11	1	0	1	0	1	0	0	0	0	231	1538	54	0	1390	0	ADAD1	4	123336640	Frame_Shift_Del	DEL	TCAT	TCGA-3B-A9HV-01A-11D-A38Z-09	80933460	123336640	67817636	10	832											
PHF17	79960	genome.wustl.edu	37	chr4	129792885	129792885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagacaatcgttttcattGtgatctcattaaaggagact	8	6	2	3			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr4:129792885G>A	ENST00000226319.6	+	11	2277	c.1997G>A	c.(1996-1998)tGt>tAt	p.C666Y	PHF17_ENST00000452328.2_Missense_Mutation_p.C654Y|PHF17_ENST00000512960.1_Missense_Mutation_p.C666Y	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGTTTTCATTGTGATCTCATT	0.423																																																	0								ENSG00000077684						72	71	71					4																	129792885		2203	4300	6503	PHF17	SO:0001583	missense	0			-	HGNC																												ENST00000226319.6:c.1997G>A	4.37:g.129792885G>A	ENSP00000226319:p.Cys666Tyr	Somatic	0	33	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Missense_Mutation	SNP							pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C666Y	ENST00000226319.6	37	c.1997	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729608	0.48833	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.41065	1.01;1.02;1.01	4.59	4.59	0.56863	.	0.472602	0.25654	N	0.029191	T	0.29093	0.0723	L	0.27053	0.805	0.80722	D	1	P;P	0.44241	0.829;0.77	B;B	0.34652	0.187;0.123	T	0.08953	-1.0697	9	.	.	.	.	17.9869	0.89158	0.0:0.0:1.0:0.0	.	654;666	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	Y	666;654;666;666	ENSP00000226319:C666Y;ENSP00000388015:C654Y;ENSP00000425730:C666Y	.	C	+	2	0	PHF17	130012335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.198000	0.51035	2.542000	0.85734	0.655000	0.94253	TGT	-	NULL		0.423	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	protein_coding	OTTHUMT00000364280.1	G		-		129792885	1	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129792885	G	A	129792885	3	1	11	1	0	0	0	0	1	0	0	0	11830	1377	48	2	2062	2	PHF17	4	129792885	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	6456245	129792885	61361391	11	833											
SH3RF1	57630	genome.wustl.edu	37	chr4	170057480	170057480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatttacctgagaaggggCactgcaggagagcccagaca	14	9	0	3			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr4:170057480C>T	ENST00000284637.9	-	5	1398	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	353					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGAGAAGGGGCACTGCAGGAG	0.512																																																	0								ENSG00000154447						171	187	182					4																	170057480		2203	4300	6503	SH3RF1	SO:0001583	missense	0			-	HGNC	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1057G>A	4.37:g.170057480C>T	ENSP00000284637:p.Ala353Thr	Somatic	0	27	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.A353T	ENST00000284637.9	37	c.1057	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500643	0.85176	.	.	ENSG00000154447	ENST00000284637	T	0.15487	2.42	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	L	0.58583	1.82	0.80722	D	1	P	0.36909	0.573	B	0.33690	0.168	T	0.03957	-1.0989	10	0.16420	T	0.52	-29.5704	20.0542	0.97645	0.0:1.0:0.0:0.0	.	353	Q7Z6J0	SH3R1_HUMAN	T	353	ENSP00000284637:A353T	ENSP00000284637:A353T	A	-	1	0	SH3RF1	170294055	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.487000	0.81328	2.743000	0.94032	0.655000	0.94253	GCC	-	NULL		0.512	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	protein_coding	OTTHUMT00000363382.3	C	NM_020870	-		170057480	-1	no_errors	ENST00000284637	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170057480	C	T	170057480	3	4	11	1	0	0	0	0	1	0	0	0	14266	710	25	2	1641	2	SH3RF1	4	170057480	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	40264595	170057480	21096796	12	834											
UGT3A1	133688	genome.wustl.edu	37	chr5	35957294	35957294	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cctaagcagtccttacccagGaggtcactctgaggaagcca	10	13	2	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr5:35957294G>C	ENST00000274278.3	-	5	1428	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L	UGT3A1_ENST00000507113.1_Silent_p.L323L|UGT3A1_ENST00000503189.1_Silent_p.L357L|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	357						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTACCCAGGAGGTCACTCT	0.488																																																	0								ENSG00000145626						90	77	82					5																	35957294		2203	4300	6503	UGT3A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1071C>G	5.37:g.35957294G>C		Somatic	0	48	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L357	ENST00000274278.3	37	c.1071	CCDS3913.1	5																																																																																			-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.488	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	protein_coding	OTTHUMT00000253770.2	G	NM_152404	-		35957294	-1	no_errors	ENST00000274278	ensembl	human	known	74_37	silent	SNP	0.917	C	C	35957294	G	C	35957294	2	2	11	1	0	0	0	0	0	0	0	1	16970	1161	41	4		4	UGT3A1	5	35957294	Silent	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		35957294	144957966	13	835											
CKMT2	1160	genome.wustl.edu	37	chr5	80548599	80548599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccaagcttcgcaacaagGtgacacccaacggctacacg	9	14	0	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr5:80548599G>T	ENST00000424301.2	+	4	476	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	CKMT2_ENST00000254035.4_Missense_Mutation_p.V80L|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.V80L|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	80	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TCGCAACAAGGTGACACCCAA	0.597																																																	0								ENSG00000131730						125	105	112					5																	80548599		2203	4300	6503	CKMT2	SO:0001583	missense	0			-	HGNC		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.238G>T	5.37:g.80548599G>T	ENSP00000404203:p.Val80Leu	Somatic	0	37	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6ICS8|Q8N1E1	Missense_Mutation	SNP							pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.V80L	ENST00000424301.2	37	c.238	CCDS4053.1	5	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081203	0.36758	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	6.04	0.604	0.17547	ATP:guanido phosphotransferase, N-terminal (4);	0.652897	0.16544	N	0.209794	T	0.52757	0.1754	M	0.64170	1.965	0.32009	N	0.602398	B	0.02656	0.0	B	0.04013	0.001	T	0.51733	-0.8668	10	0.37606	T	0.19	-9.7058	6.664	0.23031	0.5306:0.127:0.3425:0.0	.	80	P17540	KCRS_HUMAN	L	80	ENSP00000254035:V80L;ENSP00000423264:V80L;ENSP00000410289:V80L;ENSP00000404203:V80L;ENSP00000427635:V80L	ENSP00000254035:V80L	V	+	1	0	CKMT2	80584355	0.001000	0.12720	0.996000	0.52242	0.934000	0.57294	-0.082000	0.11304	0.142000	0.18901	0.561000	0.74099	GTG	-	pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N		0.597	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CKMT2	protein_coding	OTTHUMT00000369600.1	G	NM_001825	-		80548599	1	no_errors	ENST00000254035	ensembl	human	known	74_37	missense	SNP	0.594	T	T	80548599	G	T	80548599	3	4	11	1	0	0	0	0	1	0	0	0	3453	1261	44	3	244	3	CKMT2	5	80548599	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	44591305	80548599	100366661	14	836											
ARSK	153642	genome.wustl.edu	37	chr5	94927274	94927274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaccaggaattaaagcCggcctacaagtatcaaatgt	10	8	1	0	rs140272875		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr5:94927274C>T	ENST00000380009.4	+	6	1246	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	347					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 region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAATTAAAGCCGGCCTACAAG	0.398													C|||	1	0.000199681	8e-04	0	5008	,	,		21141	0		0	False		,,,				2504	0																0								ENSG00000164291	C		4,4402	8.1+/-20.4	0,4,2199	210	221	217		1041	3.9	1	5	dbSNP_134	217	0,8600		0,0,4300	no	coding-synonymous	ARSK	NM_198150.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		347/537	94927274	4,13002	2203	4300	6503	ARSK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1041C>T	5.37:g.94927274C>T		Somatic	0	57	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	50	37.50	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP							pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A347	ENST00000380009.4	37	c.1041	CCDS4073.1	5																																																																																			-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.398	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	protein_coding	OTTHUMT00000241652.2	C	NM_198150	rs140272875		94927274	1	no_errors	ENST00000380009	ensembl	human	known	74_37	silent	SNP	0.970	T	T	94927274	C	T	94927274	2	4	11	1	0	0	0	0	0	0	0	1	996	639	23	1		1	ARSK	5	94927274	Silent	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	14378675	94927274	85987986	15	837											
PCDHB4	56131	genome.wustl.edu	37	chr5	140502400	140502400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatagatgctggaaacttcGggagtgtttcttatggctta	11	5	1	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr5:140502400G>T	ENST00000194152.1	+	1	820	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	274	Cadherin 3. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAAACTTCGGGAGTGTTTC	0.403																																																	0								ENSG00000081818						101	115	111					5																	140502400		2202	4300	6502	PCDHB4	SO:0001583	missense	0			-	HGNC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.820G>T	5.37:g.140502400G>T	ENSP00000194152:p.Gly274Trp	Somatic	0	76	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q4V761	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G274W	ENST00000194152.1	37	c.820	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014631	0.54468	.	.	ENSG00000081818	ENST00000194152	T	0.53423	0.62	4.41	4.41	0.53225	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82250	0.4996	H	0.99143	4.445	0.41203	D	0.986382	D	0.89917	1.0	D	0.97110	1.0	D	0.90610	0.4551	9	0.87932	D	0	.	17.5536	0.87884	0.0:0.0:1.0:0.0	.	274	Q9Y5E5	PCDB4_HUMAN	W	274	ENSP00000194152:G274W	ENSP00000194152:G274W	G	+	1	0	PCDHB4	140482584	0.977000	0.34250	0.990000	0.47175	0.800000	0.45204	2.592000	0.46171	2.449000	0.82847	0.650000	0.86243	GGG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	G	NM_018938	-		140502400	1	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	SNP	0.881	T	T	140502400	G	T	140502400	3	4	11	1	0	0	0	0	1	0	0	0	11546	1116	39	3	822	3	PCDHB4	5	140502400	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	45575126	140502400	40412860	16	838											
GRIA1	2890	genome.wustl.edu	37	chr5	152873493	152873493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttctcatagggggaTtatttccaaaccagcagtca	7	9	3	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr5:152873493T>G	ENST00000285900.5	+	2	431	c.88T>G	c.(88-90)Tta>Gta	p.L30V	GRIA1_ENST00000340592.5_Missense_Mutation_p.L30V|GRIA1_ENST00000518142.1_Missense_Mutation_p.L30V|GRIA1_ENST00000448073.4_Missense_Mutation_p.L40V|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_De_novo_Start_OutOfFrame|GRIA1_ENST00000518783.1_Missense_Mutation_p.L40V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	30					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CATAGGGGGATTATTTCCAAA	0.458																																																	0								ENSG00000155511						113	111	112					5																	152873493		2203	4300	6503	GRIA1	SO:0001583	missense	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.88T>G	5.37:g.152873493T>G	ENSP00000285900:p.Leu30Val	Somatic	0	26	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L40V	ENST00000285900.5	37	c.118	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453436	0.43531	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	T;T;T;T;T	0.51574	1.73;0.7;1.73;2.4;2.4	5.48	4.32	0.51571	.	0.000000	0.64402	D	0.000003	T	0.54111	0.1838	L	0.36672	1.1	0.80722	D	1	D;D;P;D;D;P	0.65815	0.991;0.991;0.956;0.991;0.995;0.467	D;D;P;D;D;B	0.71870	0.944;0.944;0.899;0.944;0.975;0.099	T	0.55159	-0.8184	10	0.87932	D	0	.	7.8105	0.29228	0.0:0.1598:0.0:0.8402	.	40;40;30;40;30;30	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	V	30;30;30;30;40;40	ENSP00000285900:L30V;ENSP00000427920:L30V;ENSP00000339343:L30V;ENSP00000428994:L40V;ENSP00000415569:L40V	ENSP00000285900:L30V	L	+	1	2	GRIA1	152853686	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.559000	0.53756	0.911000	0.36747	0.533000	0.62120	TTA	-	NULL		0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	T		-		152873493	1	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	SNP	1.000	G	G	152873493	T	G	152873493	3	3	11	1	0	0	0	0	1	0	0	0	6769	1490	52	5	94	5	GRIA1	5	152873493	Missense_Mutation	SNP	T	TCGA-3B-A9HV-01A-11D-A38Z-09	12371093	152873493	28041767	17	839											
TBC1D9B	23061	genome.wustl.edu	37	chr5	179305451	179305451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctcctctgtggccaggCtgtacttcccggtggacttc	11	14	2	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr5:179305451C>T	ENST00000356834.3	-	10	1677	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S547N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	547	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCCAGGCTGTACTTCCC	0.647																																																	0								ENSG00000197226						72	51	58					5																	179305451		2203	4300	6503	TBC1D9B	SO:0001583	missense	0			-	HGNC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1640G>A	5.37:g.179305451C>T	ENSP00000349291:p.Ser547Asn	Somatic	0	51	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.S547N	ENST00000356834.3	37	c.1640	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	C	6.661	0.490523	0.12702	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.11821	2.74;2.74	5.39	3.6	0.41247	Rab-GAP/TBC domain (4);	0.193211	0.44902	D	0.000419	T	0.09069	0.0224	L	0.28740	0.885	0.80722	D	1	B;B;B	0.16603	0.002;0.001;0.018	B;B;B	0.22880	0.019;0.011;0.042	T	0.18650	-1.0330	10	0.16896	T	0.51	-22.1386	7.5282	0.27668	0.0:0.6813:0.0:0.3187	.	547;547;547	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	N	547	ENSP00000349291:S547N;ENSP00000347375:S547N	ENSP00000347375:S547N	S	-	2	0	TBC1D9B	179238057	0.996000	0.38824	1.000000	0.80357	0.194000	0.23727	0.585000	0.23879	1.264000	0.44198	0.561000	0.74099	AGC	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.647	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	protein_coding	OTTHUMT00000253501.3	C	NM_015043	-		179305451	-1	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	SNP	0.988	T	T	179305451	C	T	179305451	3	4	11	1	0	0	0	0	1	0	0	0	15635	797	28	2	2164	2	TBC1D9B	5	179305451	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	26431958	179305451	1609809	18	840											
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056568	26056568	+	Frame_Shift_Del	DEL	C	C	-													cagacgccttacgaggcgtaCccccagcctttttggccgcc					rs41266789	byFrequency	TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr6:26056568delC	ENST00000343677.2	-	1	131	c.89delG	c.(88-90)ggtfs	p.G30fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	30					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACGAGGCGTACCCCCAGCCTT	0.607																																																	0								ENSG00000187837						40	47	44					6																	26056568		2203	4300	6503	HIST1H1C	SO:0001589	frameshift_variant	0				HGNC	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.89delG	6.37:g.26056568delC	ENSP00000339566:p.Gly30fs	Somatic	0	108	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	59	45.37	A8K4I2	Frame_Shift_Del	DEL							pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.G30fs	ENST00000343677.2	37	c.89	CCDS4577.1	6																																																																																			-	prints_Histone_H5		0.607	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	protein_coding	OTTHUMT00000043372.1	C	NM_005319			26056568	-1	no_errors	ENST00000343677	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	26056568	C	-	26056568	7	5	11	1	0	1	0	1	0	0	0	0	7126	507	18	0	556	0	HIST1H1C	6	26056568	Frame_Shift_Del	DEL	C	TCGA-3B-A9HV-01A-11D-A38Z-09		26056568	145058499	19	841											
COL11A2	1302	genome.wustl.edu	37	chr6	33145927	33145927	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagggggtccaggaataccAggtgggcctttggggccaag	17	9	0	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr6:33145927A>T	ENST00000374708.4	-	19	1854	c.1596T>A	c.(1594-1596)ccT>ccA	p.P532P	COL11A2_ENST00000395197.1_Silent_p.P558P|COL11A2_ENST00000374714.1_Silent_p.P592P|COL11A2_ENST00000374713.1_Silent_p.P571P|COL11A2_ENST00000374712.1_Silent_p.P537P|COL11A2_ENST00000341947.2_Silent_p.P618P|COL11A2_ENST00000361917.1_Silent_p.P511P|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000357486.1_Silent_p.P597P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	618	Collagen-like 2.|Triple-helical 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)			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						CAGGAATACCAGGTGGGCCTT	0.567																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						86	72	77					6																	33145927		1511	2709	4220	COL11A2	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000374708.4:c.1596T>A	6.37:g.33145927A>T		Somatic	0	72	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P618	ENST00000374708.4	37	c.1854	CCDS43452.1	6																																																																																			-	NULL		0.567	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	A		-		33145927	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33145927	A	T	33145927	2	4	11	1	0	0	0	0	0	0	0	1	3670	175	7	5		5	COL11A2	6	33145927	Silent	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09	7089359	33145927	137969140	20	842											
GPR111	222611	genome.wustl.edu	37	chr6	47650127	47650127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggccttcgtgatcccagCtttggccatcgtggtagtaa	11	12	0	1	rs199531842		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr6:47650127C>A	ENST00000296862.1	+	6	1832	c.1832C>A	c.(1831-1833)gCt>gAt	p.A611D	GPR111_ENST00000507065.1_Missense_Mutation_p.A543D|GPR111_ENST00000398742.2_Missense_Mutation_p.A543D			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	611					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(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTGATCCCAGCTTTGGCCATC	0.537																																																	0								ENSG00000164393						58	58	58					6																	47650127		2050	4204	6254	GPR111	SO:0001583	missense	0			-	HGNC	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1832C>A	6.37:g.47650127C>A	ENSP00000296862:p.Ala611Asp	Somatic	0	14	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A611D	ENST00000296862.1	37	c.1832		6	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199726	0.79015	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.35048	1.33;1.33;1.33	5.64	4.76	0.60689	GPCR, family 2-like (1);	0.189043	0.37136	N	0.002229	T	0.60183	0.2249	M	0.90977	3.165	0.47065	D	0.999305	D;D	0.69078	0.989;0.997	D;D	0.72075	0.932;0.976	T	0.72757	-0.4197	10	0.87932	D	0	.	15.1564	0.72746	0.1419:0.8581:0.0:0.0	.	543;611	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	D	543;611;543	ENSP00000422934:A543D;ENSP00000296862:A611D;ENSP00000381727:A543D	ENSP00000296862:A611D	A	+	2	0	GPR111	47758086	1.000000	0.71417	0.994000	0.49952	0.901000	0.52897	6.049000	0.71053	1.369000	0.46134	0.655000	0.94253	GCT	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.537	GPR111-001	KNOWN	basic	protein_coding	GPR111	protein_coding	OTTHUMT00000106423.2	C	NM_153839	rs199531842		47650127	1	no_errors	ENST00000296862	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47650127	C	A	47650127	3	1	11	1	0	0	0	0	1	0	0	0	6630	797	28	3	1646	3	GPR111	6	47650127	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	14504200	47650127	123464940	21	843											
SDK1	221935	genome.wustl.edu	37	chr7	3681632	3681632	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaccagaggaaaacagtttCtcaaggacgtgcagcgattc	12	9	1	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr7:3681632C>T	ENST00000404826.2	+	4	747	c.608C>T	c.(607-609)tCt>tTt	p.S203F	AC011284.3_ENST00000427920.1_RNA|SDK1_ENST00000389531.3_Missense_Mutation_p.S203F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	203	Ig-like C2-type 2.				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)		AAAACAGTTTCTCAAGGACGT	0.463																																																	0								ENSG00000146555						111	102	105					7																	3681632		2203	4300	6503	SDK1	SO:0001583	missense	0			-	HGNC	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.608C>T	7.37:g.3681632C>T	ENSP00000385899:p.Ser203Phe	Somatic	0	86	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S203F	ENST00000404826.2	37	c.608	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604361	0.28534	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.47869	0.83;0.83	5.91	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);	1.207570	0.06169	N	0.677267	T	0.46889	0.1416	L	0.43646	1.37	0.25847	N	0.983986	B	0.06786	0.001	B	0.12156	0.007	T	0.30707	-0.9969	10	0.54805	T	0.06	.	14.2321	0.65901	0.0:0.9196:0.0:0.0804	.	203	Q7Z5N4	SDK1_HUMAN	F	203	ENSP00000385899:S203F;ENSP00000374182:S203F	ENSP00000374182:S203F	S	+	2	0	SDK1	3648158	0.369000	0.25039	0.008000	0.14137	0.299000	0.27559	5.141000	0.64814	2.804000	0.96469	0.650000	0.86243	TCT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2		0.463	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	C	NM_152744	-		3681632	1	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	SNP	0.613	T	T	3681632	C	T	3681632	3	4	11	1	0	0	0	0	1	0	0	0	13976	913	32	2	622	2	SDK1	7	3681632	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09		3681632	155457031	22	844			1	6		2	2	21	C		3.811698e-05
SDK1	221935	genome.wustl.edu	37	chr7	3681652	3681652	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaaggacgtgcagcgattCtaaacctgctgcccatcacc	8	15	3	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr7:3681652C>A	ENST00000404826.2	+	4	767	c.628C>A	c.(628-630)Cta>Ata	p.L210I	AC011284.3_ENST00000427920.1_RNA|SDK1_ENST00000389531.3_Missense_Mutation_p.L210I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	210	Ig-like C2-type 2.				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)		TGCAGCGATTCTAAACCTGCT	0.443																																																	0								ENSG00000146555						117	105	109					7																	3681652		2203	4300	6503	SDK1	SO:0001583	missense	0			-	HGNC	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.628C>A	7.37:g.3681652C>A	ENSP00000385899:p.Leu210Ile	Somatic	0	89	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L210I	ENST00000404826.2	37	c.628	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	6.841	0.524416	0.13066	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.85411	-1.98;-1.98	5.73	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin I-set (1);	0.000000	0.35235	N	0.003349	T	0.80491	0.4633	L	0.35854	1.095	0.41300	D	0.987035	P	0.36199	0.543	B	0.39660	0.306	T	0.78507	-0.2177	10	0.33940	T	0.23	.	13.0231	0.58800	0.0:0.9257:0.0:0.0743	.	210	Q7Z5N4	SDK1_HUMAN	I	210	ENSP00000385899:L210I;ENSP00000374182:L210I	ENSP00000374182:L210I	L	+	1	2	SDK1	3648178	0.999000	0.42202	0.024000	0.17045	0.228000	0.25075	4.180000	0.58296	1.431000	0.47355	-0.142000	0.14014	CTA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2		0.443	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	C	NM_152744	-		3681652	1	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	SNP	0.967	A	A	3681652	C	A	3681652	3	1	11	1	0	0	0	0	1	0	0	0	13976	912	32	3	642	3	SDK1	7	3681652	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	20	3681652	155457011	23	845			1	6		2	2	21	C		3.811698e-05
POLM	27434	genome.wustl.edu	37	chr7	44116110	44116110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctctggagggctcacccGctttctgctgttgggttagt	12	12	3	0	rs149703411		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr7:44116110G>T	ENST00000242248.5	-	6	934	c.833C>A	c.(832-834)gCg>gAg	p.A278E	POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Intron|POLM_ENST00000335195.6_Missense_Mutation_p.A278E	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	278					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GGGCTCACCCGCTTTCTGCTG	0.607								DNA polymerases (catalytic subunits)																																									0								ENSG00000122678						114	109	111					7																	44116110		2203	4300	6503	POLM	SO:0001583	missense	0			-	HGNC	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.833C>A	7.37:g.44116110G>T	ENSP00000242248:p.Ala278Glu	Somatic	0	23	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP							pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.A278E	ENST00000242248.5	37	c.833	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559204	0.45590	.	.	ENSG00000122678	ENST00000335195;ENST00000242248	T;T	0.48201	0.82;0.82	5.68	2.58	0.30949	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	.	.	.	.	T	0.64724	0.2624	M	0.81942	2.565	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.72075	0.964;0.976	T	0.62807	-0.6776	9	0.72032	D	0.01	.	7.3723	0.26808	0.3134:0.0:0.6866:0.0	.	278;278	Q6P5X8;Q9NP87	.;DPOLM_HUMAN	E	278	ENSP00000335141:A278E;ENSP00000242248:A278E	ENSP00000242248:A278E	A	-	2	0	POLM	44082635	1.000000	0.71417	0.966000	0.40874	0.719000	0.41307	2.174000	0.42482	0.206000	0.20587	-0.143000	0.13931	GCG	-	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,prints_DNA_pol_X_beta-like		0.607	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	protein_coding	OTTHUMT00000339594.1	G	NM_013284	-		44116110	-1	no_errors	ENST00000242248	ensembl	human	known	74_37	missense	SNP	0.996	T	T	44116110	G	T	44116110	3	4	11	1	0	0	0	0	1	0	0	0	12208	1087	38	3	675	3	POLM	7	44116110	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	40434458	44116110	115022553	24	846											
PAX4	5078	genome.wustl.edu	37	chr7	127251732	127251733	+	Splice_Site	INS	-	-	A													cacactgccaggggactgctINSaaaaaaaaaaagcaagagaa					rs35434068|rs375404897|rs386411245		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr7:127251732_127251733insA	ENST00000341640.2	-	8	953		c.e8-2		PAX4_ENST00000378740.2_Splice_Site|PAX4_ENST00000463946.1_Splice_Site|PAX4_ENST00000338516.3_Splice_Site	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4						cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGGGACTGCTAAAAAAAAAAA	0.569																																					Ovarian(113;737 1605 7858 27720 34092)												0								ENSG00000106331																																			PAX4	SO:0001630	splice_region_variant	0				HGNC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.748-2->T	7.37:g.127251743_127251743dupA		Somatic	0	10	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	O95161|Q6B0H0	Splice_Site	INS							-	e8-2	ENST00000341640.2	37	c.748-3_748-2	CCDS5797.1	7																																																																																			-	-		0.569	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	protein_coding	OTTHUMT00000349165.1	-			Intron	127251733	-1	no_errors	ENST00000341640	ensembl	human	known	74_37	splice_site_ins	INS	0.745:0.624	A	A	127251733	-	A	127251732	8	5	11	1	0	1	1	0	0	0	1	0	11483	1536	53	0	293	0	PAX4	7	127251732	Splice_Site	INS	-	TCGA-3B-A9HV-01A-11D-A38Z-09	83135622	127251732	31886931	25	847											
UBE3C	9690	genome.wustl.edu	37	chr7	157000591	157000591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaaatgcaacaatgcAtacagatggaacagaaaaga	9	7	1	4			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr7:157000591A>C	ENST00000348165.5	+	13	2131	c.1771A>C	c.(1771-1773)Ata>Cta	p.I591L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	591					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCAACAATGCATACAGATGGA	0.328																																																	0								ENSG00000009335						95	99	97					7																	157000591		2203	4300	6503	UBE3C	SO:0001583	missense	0			-	HGNC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1771A>C	7.37:g.157000591A>C	ENSP00000309198:p.Ile591Leu	Somatic	0	17	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.I591L	ENST00000348165.5	37	c.1771	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819987	0.50633	.	.	ENSG00000009335	ENST00000348165	T	0.40476	1.03	5.34	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	M	0.63428	1.95	0.80722	D	1	B;B	0.29805	0.067;0.257	B;B	0.28553	0.024;0.091	T	0.15065	-1.0450	10	0.16896	T	0.51	.	11.6493	0.51279	0.8675:0.0:0.0:0.1325	.	591;591	Q15386;Q15386-2	UBE3C_HUMAN;.	L	591	ENSP00000309198:I591L	ENSP00000309198:I591L	I	+	1	0	UBE3C	156693352	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	5.421000	0.66447	2.022000	0.59522	0.528000	0.53228	ATA	-	NULL		0.328	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	protein_coding	OTTHUMT00000348108.1	A	NM_014671	-		157000591	1	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	SNP	1.000	C	C	157000591	A	C	157000591	3	2	11	1	0	0	0	0	1	0	0	0	16888	217	8	5	1821	5	UBE3C	7	157000591	Missense_Mutation	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09	29748859	157000591	2138072	26	848											
ADAM7	8756	genome.wustl.edu	37	chr8	24339813	24339813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaaggattttgatcatgtTgtattactcaggttggtgat	12	4	2	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr8:24339813T>C	ENST00000175238.6	+	9	947	c.864T>C	c.(862-864)gtT>gtC	p.V288V	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V60V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V288V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	288	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGATCATGTTGTATTACTCA	0.269																																																	0								ENSG00000069206						152	156	155					8																	24339813		2203	4299	6502	ADAM7	SO:0001819	synonymous_variant	0			-	HGNC	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.864T>C	8.37:g.24339813T>C		Somatic	0	61	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	4	92.59	A8K8X7|O75959|Q6PEJ6	Silent	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V288	ENST00000175238.6	37	c.864	CCDS6045.1	8																																																																																			-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.269	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	protein_coding	OTTHUMT00000215150.1	T	NM_003817	-		24339813	1	no_errors	ENST00000175238	ensembl	human	known	74_37	silent	SNP	0.003	C	C	24339813	T	C	24339813	2	2	11	1	0	0	0	0	0	0	0	1	251	1799	63	5		5	ADAM7	8	24339813	Silent	SNP	T	TCGA-3B-A9HV-01A-11D-A38Z-09		24339813	122024209	27	849											
RP1	6101	genome.wustl.edu	37	chr8	55539286	55539286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgagtgtggtaaattgtagCaataatagtttttcagggaa	11	3	1	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr8:55539286C>A	ENST00000220676.1	+	4	2992	c.2844C>A	c.(2842-2844)agC>agA	p.S948R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	948					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)			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)			TAAATTGTAGCAATAATAGTT	0.318																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						42	45	44					8																	55539286		2203	4300	6503	RP1	SO:0001583	missense	0			-	HGNC	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.2844C>A	8.37:g.55539286C>A	ENSP00000220676:p.Ser948Arg	Somatic	0	93	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	51	46.32		Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S948R	ENST00000220676.1	37	c.2844	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	4.642	0.119367	0.08881	.	.	ENSG00000104237	ENST00000220676	T	0.47177	0.85	5.54	-2.04	0.07343	.	0.519751	0.18706	N	0.133430	T	0.33644	0.0870	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.34625	-0.9821	10	0.87932	D	0	.	13.486	0.61366	0.0:0.5115:0.0:0.4885	.	948	P56715	RP1_HUMAN	R	948	ENSP00000220676:S948R	ENSP00000220676:S948R	S	+	3	2	RP1	55701839	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.757000	0.04772	-0.321000	0.08627	0.609000	0.83330	AGC	-	NULL		0.318	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	C	NM_006269	-		55539286	1	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55539286	C	A	55539286	3	1	11	1	0	0	0	0	1	0	0	0	13540	709	25	3	2854	3	RP1	8	55539286	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	31199473	55539286	90824736	28	850											
TGS1	96764	genome.wustl.edu	37	chr8	56686236	56686236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcattgaggagcgggAggattgtaagatactgtgcc	13	7	2	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr8:56686236A>G	ENST00000260129.5	+	1	536	c.59A>G	c.(58-60)gAg>gGg	p.E20G	TMEM68_ENST00000519784.1_5'Flank|TMEM68_ENST00000434581.2_5'Flank|TMEM68_ENST00000334667.2_5'Flank|TMEM68_ENST00000523073.1_5'Flank|TMEM68_ENST00000522576.1_5'Flank|TMEM68_ENST00000521229.1_5'Flank	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	20					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GAGGAGCGGGAGGATTGTAAG	0.502																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0								ENSG00000137574						142	140	141					8																	56686236		2203	4300	6503	TGS1	SO:0001583	missense	0			-	HGNC	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.59A>G	8.37:g.56686236A>G	ENSP00000260129:p.Glu20Gly	Somatic	0	55	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP							pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.E20G	ENST00000260129.5	37	c.59	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417785	0.42918	.	.	ENSG00000137574	ENST00000260129	T	0.16897	2.31	4.83	3.67	0.42095	.	0.709658	0.13993	N	0.348675	T	0.26231	0.0640	L	0.36672	1.1	0.29417	N	0.860819	D	0.76494	0.999	D	0.69654	0.965	T	0.09079	-1.0691	10	0.66056	D	0.02	-28.2492	5.1667	0.15088	0.7257:0.1813:0.093:0.0	.	20	Q96RS0	TGS1_HUMAN	G	20	ENSP00000260129:E20G	ENSP00000260129:E20G	E	+	2	0	TGS1	56848790	1.000000	0.71417	0.985000	0.45067	0.016000	0.09150	3.894000	0.56250	0.971000	0.38288	-0.256000	0.11100	GAG	-	NULL		0.502	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	protein_coding	OTTHUMT00000378152.1	A	NM_024831	-		56686236	1	no_errors	ENST00000260129	ensembl	human	known	74_37	missense	SNP	0.972	G	G	56686236	A	G	56686236	3	3	11	1	0	0	0	0	1	0	0	0	15844	304	11	5	61	5	TGS1	8	56686236	Missense_Mutation	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09	1146950	56686236	89677786	29	851											
OC90	729330	genome.wustl.edu	37	chr8	133045354	133045354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagagatttaatgccaGcagggacaagggttacaatt	11	9	0	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr8:133045354G>A	ENST00000443356.2	-	12	925	c.839C>T	c.(838-840)gCt>gTt	p.A280V	OC90_ENST00000262283.5_Missense_Mutation_p.A476V|OC90_ENST00000603859.1_Missense_Mutation_p.A264V|OC90_ENST00000254627.3_Missense_Mutation_p.A264V			Q02509	OC90_HUMAN	otoconin 90	280					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTTAATGCCAGCAGGGACAAG	0.453																																																	0								ENSG00000258417						61	64	63					8																	133045354		1900	4124	6024	OC90	SO:0001583	missense	0			-	Uniprot_gn	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.839C>T	8.37:g.133045354G>A	ENSP00000390050:p.Ala280Val	Somatic	0	16	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	B4DNG8	Missense_Mutation	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.A280V	ENST00000443356.2	37	c.839		8	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893423	0.33442	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.37058	1.44;1.27;1.22	4.58	2.79	0.32731	.	0.554792	0.18314	N	0.145006	T	0.24967	0.0606	L	0.32530	0.975	0.09310	N	1	B;B	0.25772	0.134;0.048	B;B	0.23275	0.045;0.02	T	0.19031	-1.0318	10	0.62326	D	0.03	-1.1284	6.9768	0.24679	0.2026:0.0:0.7974:0.0	.	264;280	Q02509-2;Q02509	.;OC90_HUMAN	V	264;280;476	ENSP00000254627:A264V;ENSP00000390050:A280V;ENSP00000262283:A476V	ENSP00000254627:A264V	A	-	2	0	RP11-240B13.2;OC90	133114536	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.369000	0.20416	0.865000	0.35603	-0.218000	0.12543	GCT	-	NULL		0.453	OC90-201	KNOWN	basic	protein_coding	OC90	protein_coding		G	NM_001080399	-		133045354	-1	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	SNP	0.001	A	A	133045354	G	A	133045354	3	1	11	1	0	0	0	0	1	0	0	0	10816	971	34	2	658	2	OC90	8	133045354	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	76359118	133045354	13318668	30	852											
KIAA1161	57462	genome.wustl.edu	37	chr9	34372601	34372601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgccggagcggaagGccaggcggaagacctgctct	16	14	1	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr9:34372601G>A	ENST00000297625.7	-	2	464	c.239C>T	c.(238-240)gCc>gTc	p.A80V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	114					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GGAGCGGAAGGCCAGGCGGAA	0.677																																																	0								ENSG00000164976						17	28	24					9																	34372601		2141	4237	6378	KIAA1161	SO:0001583	missense	0			-	HGNC	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.239C>T	9.37:g.34372601G>A	ENSP00000297625:p.Ala80Val	Somatic	0	30	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP							pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.A80V	ENST00000297625.7	37	c.239		9	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655323	0.47467	.	.	ENSG00000164976	ENST00000297625	T	0.69561	-0.41	5.82	5.82	0.92795	.	0.055234	0.64402	D	0.000001	T	0.59059	0.2166	L	0.38175	1.15	0.40712	D	0.982583	B	0.14805	0.011	B	0.08055	0.003	T	0.52601	-0.8554	10	0.25751	T	0.34	-18.4366	18.6531	0.91439	0.0:0.0:1.0:0.0	.	114	Q6NSJ0	K1161_HUMAN	V	80	ENSP00000297625:A80V	ENSP00000297625:A80V	A	-	2	0	KIAA1161	34362601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.939000	0.63526	2.761000	0.94854	0.655000	0.94253	GCC	-	NULL		0.677	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	protein_coding	OTTHUMT00000052158.1	G	XM_351807	-		34372601	-1	no_errors	ENST00000297625	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34372601	G	A	34372601	3	1	11	1	0	0	0	0	1	0	0	0	8213	1203	42	2	1807	2	KIAA1161	9	34372601	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		34372601	106840830	31	853											
CKS2	1164	genome.wustl.edu	37	chr9	91931306	91931306	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccacatattcttctctTtagacgacctcttccaaaag	4	12	3	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr9:91931306T>G	ENST00000314355.6	+	3	301	c.206T>G	c.(205-207)tTt>tGt	p.F69C	SECISBP2_ENST00000534113.2_5'Flank|SECISBP2_ENST00000339901.4_5'Flank|SECISBP2_ENST00000375807.3_5'Flank	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	69					cell proliferation (GO:0008283)|meiosis I (GO:0007127)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			kidney(1)|large_intestine(1)	2						ATTCTTCTCTTTAGACGACCT	0.289																																																	0								ENSG00000123975						36	34	35					9																	91931306		2198	4288	6486	CKS2	SO:0001583	missense	0			-	HGNC	X54942	CCDS6682.1	9q22	2008-02-05	2002-10-07		ENSG00000123975	ENSG00000123975			2000	protein-coding gene	gene with protein product		116901	"CDC28 protein kinase 2"			2227411, 8697818	Standard	NM_001827		Approved		uc004aqh.3	P33552	OTTHUMG00000020180	ENST00000314355.6:c.206T>G	9.37:g.91931306T>G	ENSP00000364976:p.Phe69Cys	Somatic	0	89	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q6FGI9|Q6LET5	Missense_Mutation	SNP							pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub	p.F69C	ENST00000314355.6	37	c.206	CCDS6682.1	9	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814938	0.70912	.	.	ENSG00000123975	ENST00000314355	.	.	.	4.97	4.97	0.65823	.	0.131845	0.52532	D	0.000074	T	0.77725	0.4173	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.64321	0.924	T	0.81387	-0.0956	8	0.87932	D	0	-7.6323	15.156	0.72743	0.0:0.0:0.0:1.0	.	69	P33552	CKS2_HUMAN	C	69	.	ENSP00000364976:F69C	F	+	2	0	CKS2	91121126	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.326000	0.79133	2.223000	0.72356	0.456000	0.33151	TTT	-	pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub		0.289	CKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKS2	protein_coding	OTTHUMT00000052988.1	T	NM_001827	-		91931306	1	no_errors	ENST00000314355	ensembl	human	known	74_37	missense	SNP	1.000	G	G	91931306	T	G	91931306	3	3	11	1	0	0	0	0	1	0	0	0	3455	1841	64	5	216	5	CKS2	9	91931306	Missense_Mutation	SNP	T	TCGA-3B-A9HV-01A-11D-A38Z-09	57558705	91931306	49282125	32	854											
ASPN	54829	genome.wustl.edu	37	chr9	95237014	95237014	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggctctcttgttggaaaaaGagagttgtcctcatcatcat	9	8	4	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr9:95237014G>A	ENST00000375544.3	-	2	409	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	ASPN_ENST00000375543.1_Missense_Mutation_p.L56F|ASPN_ENST00000450139.2_Missense_Mutation_p.L28F|ASPN_ENST00000395538.3_Missense_Mutation_p.L56F|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	56					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GTTGGAAAAAGAGAGTTGTCC	0.393																																																	0								ENSG00000106819						110	104	106					9																	95237014		2203	4300	6503	ASPN	SO:0001583	missense	0			-	HGNC	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.166C>T	9.37:g.95237014G>A	ENSP00000364694:p.Leu56Phe	Somatic	0	30	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.L56F	ENST00000375544.3	37	c.166		9	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972367	0.53614	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.56941	0.43;0.51;0.44	5.02	4.11	0.48088	.	0.515829	0.21242	N	0.077795	T	0.45357	0.1338	L	0.54323	1.7	0.29670	N	0.842568	B;B	0.28783	0.222;0.017	B;B	0.29785	0.107;0.005	T	0.42378	-0.9455	10	0.27785	T	0.31	.	8.9769	0.35941	0.079:0.164:0.7569:0.0	.	56;56	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	F	56;56;56;28	ENSP00000364694:L56F;ENSP00000364693:L56F;ENSP00000378909:L56F	ENSP00000364693:L56F	L	-	1	0	ASPN	94276835	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.554000	0.36266	1.227000	0.43598	0.655000	0.94253	CTT	-	pirsf_SLRP_I_decor/aspor/byglycan		0.393	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	protein_coding	OTTHUMT00000053094.1	G	NM_017680	-		95237014	-1	no_errors	ENST00000375544	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95237014	G	A	95237014	3	1	11	1	0	0	0	0	1	0	0	0	1057	942	33	2	1004	2	ASPN	9	95237014	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	3305708	95237014	45976417	33	855											
FGD3	89846	genome.wustl.edu	37	chr9	95766308	95766308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccaggctgacggatgCggggatccctccagaagtca	13	13	1	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr9:95766308C>T	ENST00000375482.3	+	5	1065	c.569C>T	c.(568-570)gCg>gTg	p.A190V	FGD3_ENST00000416701.2_Missense_Mutation_p.A190V|FGD3_ENST00000337352.6_Missense_Mutation_p.A190V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	190	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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)	p.A190V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CTGACGGATGCGGGGATCCCT	0.597											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000127084						76	79	78					9																	95766308		2059	4215	6274	FGD3	SO:0001583	missense	0			-	HGNC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.569C>T	9.37:g.95766308C>T	ENSP00000364631:p.Ala190Val	Somatic	0	39	0	1315	0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A190V	ENST00000375482.3	37	c.569	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230760	0.79688	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.64085	-0.08;-0.08;-0.08	4.62	3.72	0.42706	Dbl homology (DH) domain (5);	0.208574	0.24285	N	0.039865	T	0.79470	0.4451	M	0.85041	2.73	0.80722	D	1	D;P	0.89917	1.0;0.945	D;P	0.76071	0.987;0.876	T	0.82123	-0.0613	10	0.62326	D	0.03	.	12.4461	0.55651	0.0:0.9156:0.0:0.0844	.	190;190	F8W7P2;Q5JSP0	.;FGD3_HUMAN	V	190	ENSP00000364631:A190V;ENSP00000413833:A190V;ENSP00000336914:A190V	ENSP00000336914:A190V	A	+	2	0	FGD3	94806129	0.974000	0.33945	0.967000	0.41034	0.634000	0.38068	3.685000	0.54678	1.275000	0.44379	-0.119000	0.15052	GCG	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.597	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	protein_coding	OTTHUMT00000055493.1	C	NM_033086	-		95766308	1	no_errors	ENST00000337352	ensembl	human	known	74_37	missense	SNP	0.999	T	T	95766308	C	T	95766308	3	4	11	1	0	0	0	0	1	0	0	0	5836	768	27	1	579	1	FGD3	9	95766308	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	529294	95766308	45447123	34	856											
OBFC1	79991	genome.wustl.edu	37	chr10	105642449	105642449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtctctgctcagaacGctgtgtagtagtgctccatt	11	10	2	1	rs140449924		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr10:105642449G>A	ENST00000224950.3	-	10	1267	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	RP11-541N10.3_ENST00000568017.1_RNA|OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.A367V	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	367	Winged helix-turn-helix (wHTH) 2.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TGCTCAGAACGCTGTGTAGTA	0.567																																																	0								ENSG00000107960	G	VAL/ALA	0,4406		0,0,2203	95	89	91		1100	4.5	0	10	dbSNP_134	91	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OBFC1	NM_024928.4	64	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	367/369	105642449	4,13002	2203	4300	6503	OBFC1	SO:0001583	missense	0			-	HGNC	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.1100C>T	10.37:g.105642449G>A	ENSP00000224950:p.Ala367Val	Somatic	0	28	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	D3DR99|Q5TCZ0	Missense_Mutation	SNP							pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1	p.A367V	ENST00000224950.3	37	c.1100	CCDS7552.1	10	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145397	0.57044	0.0	4.65E-4	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.35973	1.28;1.28	5.43	4.51	0.55191	.	0.348407	0.33272	N	0.005088	T	0.28830	0.0715	L	0.58101	1.795	0.25950	N	0.982762	P	0.41475	0.751	B	0.25140	0.058	T	0.19943	-1.0290	10	0.32370	T	0.25	-9.2702	14.1698	0.65503	0.0:0.1512:0.8488:0.0	.	367	Q9H668	STN1_HUMAN	V	367	ENSP00000224950:A367V;ENSP00000358779:A367V	ENSP00000224950:A367V	A	-	2	0	OBFC1	105632439	0.989000	0.36119	0.045000	0.18777	0.360000	0.29518	4.013000	0.57138	1.387000	0.46486	0.491000	0.48974	GCG	-	pirsf_CST_STN1		0.567	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	protein_coding	OTTHUMT00000050174.1	G	NM_024928	rs140449924		105642449	-1	no_errors	ENST00000224950	ensembl	human	known	74_37	missense	SNP	0.452	A	A	105642449	G	A	105642449	3	1	11	1	0	0	0	0	1	0	0	0	10809	1087	38	1	10	1	OBFC1	10	105642449	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		105642449	29892298	35	857											
WIF1	11197	genome.wustl.edu	37	chr12	65471568	65471568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcagagggacattgaCggttggatctgccatgatgc	13	10	1	3	rs575603863		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr12:65471568C>T	ENST00000286574.4	-	3	729	c.355G>A	c.(355-357)Gtc>Atc	p.V119I		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	119	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGGACATTGACGGTTGGATCT	0.453			T	HMGA2	pleomorphic salivary gland adenoma								C|||	1	0.000199681	8e-04	0	5008	,	,		19849	0		0	False		,,,				2504	0				Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0								ENSG00000156076						123	104	111					12																	65471568		2203	4300	6503	WIF1	SO:0001583	missense	0			-	HGNC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.355G>A	12.37:g.65471568C>T	ENSP00000286574:p.Val119Ile	Somatic	0	16	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	37	43.94	Q6UXI1|Q8WVG4	Missense_Mutation	SNP							pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.V119I	ENST00000286574.4	37	c.355	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464130	0.26335	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.42513	0.97;0.97	5.35	3.5	0.40072	WIF domain (4);	0.072136	0.53938	D	0.000051	T	0.23649	0.0572	N	0.14661	0.345	0.47407	D	0.999417	B	0.17268	0.021	B	0.12837	0.008	T	0.05386	-1.0888	9	.	.	.	.	11.0158	0.47687	0.0:0.7941:0.0:0.2059	.	119	Q9Y5W5	WIF1_HUMAN	I	119;57	ENSP00000286574:V119I;ENSP00000442063:V57I	.	V	-	1	0	WIF1	63757835	0.547000	0.26465	0.884000	0.34674	0.831000	0.47069	1.008000	0.29872	1.410000	0.46936	0.650000	0.86243	GTC	-	pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh		0.453	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	C		-		65471568	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	SNP	0.956	T	T	65471568	C	T	65471568	3	4	11	1	0	0	0	0	1	0	0	0	17373	536	19	1	816	1	WIF1	12	65471568	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09		65471568	68380327	36	858											
C14orf119	55017	genome.wustl.edu	37	chr14	23567055	23567055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcctagaggacctggtagCtaaggcagtgccagaaaaat	11	8	0	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr14:23567055C>G	ENST00000319074.4	+	2	1044	c.188C>G	c.(187-189)gCt>gGt	p.A63G	ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_5'Flank|C14orf119_ENST00000554203.1_Missense_Mutation_p.A63G|ACIN1_ENST00000457657.1_5'Flank|ACIN1_ENST00000262710.1_5'Flank	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	63						mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		GACCTGGTAGCTAAGGCAGTG	0.502																																																	0								ENSG00000179933						133	119	124					14																	23567055		2203	4300	6503	C14orf119	SO:0001583	missense	0			-	HGNC		CCDS9588.1	14q11.2	2012-09-25			ENSG00000179933	ENSG00000179933			20270	protein-coding gene	gene with protein product							Standard	NM_017924		Approved	FLJ20671	uc001wiu.3	Q9NWQ9	OTTHUMG00000028717	ENST00000319074.4:c.188C>G	14.37:g.23567055C>G	ENSP00000322238:p.Ala63Gly	Somatic	0	22	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	23	53.06	Q6IAA7	Missense_Mutation	SNP							NULL	p.A63G	ENST00000319074.4	37	c.188	CCDS9588.1	14	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743293	0.30865	.	.	ENSG00000179933	ENST00000319074;ENST00000554203	T;T	0.46451	0.87;0.87	5.99	5.09	0.68999	.	0.368782	0.30277	N	0.009990	T	0.30166	0.0756	L	0.36672	1.1	0.27287	N	0.957935	B	0.06786	0.001	B	0.08055	0.003	T	0.17137	-1.0379	10	0.18276	T	0.48	.	9.546	0.39282	0.285:0.5771:0.1379:0.0	.	63	Q9NWQ9	CN119_HUMAN	G	63	ENSP00000322238:A63G;ENSP00000450861:A63G	ENSP00000322238:A63G	A	+	2	0	C14orf119	22636895	0.998000	0.40836	0.999000	0.59377	0.989000	0.77384	2.479000	0.45197	1.520000	0.48965	-0.181000	0.13052	GCT	-	NULL		0.502	C14orf119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf119	protein_coding	OTTHUMT00000071713.3	C	NM_017924	-		23567055	1	no_errors	ENST00000319074	ensembl	human	known	74_37	missense	SNP	0.937	G	G	23567055	C	G	23567055	3	3	11	1	0	0	0	0	1	0	0	0	1744	797	28	4	190	4	C14orf119	14	23567055	Missense_Mutation	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09		23567055	83782485	37	859											
FOXN3	1112	genome.wustl.edu	37	chr14	89878531	89878531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgtcagagtgggcagggGatgggggggtgtcatcgtcc	20	7	2	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr14:89878531G>A	ENST00000345097.4	-	2	406	c.290C>T	c.(289-291)tCc>tTc	p.S97F	FOXN3_ENST00000261302.5_Missense_Mutation_p.S97F|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000557258.1_Missense_Mutation_p.S97F|FOXN3_ENST00000555353.1_Missense_Mutation_p.S97F|RP11-33N16.3_ENST00000555070.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	97					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGGCAGGGGATGGGGGGGT	0.587																																																	0								ENSG00000053254						56	54	55					14																	89878531		2203	4300	6503	FOXN3	SO:0001583	missense	0			-	HGNC		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.290C>T	14.37:g.89878531G>A	ENSP00000343288:p.Ser97Phe	Somatic	0	25	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	2	77.78	Q96II7|Q9UIE7	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S97F	ENST00000345097.4	37	c.290	CCDS41977.1	14	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702017	0.48307	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000555855	D;D;D;D;D	0.95885	-3.73;-3.73;-3.54;-3.54;-3.84	5.15	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.71581	2.175	0.80722	D	1	P;P	0.52692	0.835;0.955	P;P	0.49708	0.62;0.466	D	0.95965	0.8965	10	0.87932	D	0	.	14.0311	0.64615	0.0744:0.0:0.9256:0.0	.	97;97	O00409;O00409-2	FOXN3_HUMAN;.	F	97	ENSP00000343288:S97F;ENSP00000261302:S97F;ENSP00000452005:S97F;ENSP00000452227:S97F;ENSP00000451135:S97F	ENSP00000261302:S97F	S	-	2	0	FOXN3	88948284	1.000000	0.71417	0.399000	0.26333	0.126000	0.20510	6.792000	0.75125	2.416000	0.81992	0.555000	0.69702	TCC	-	NULL		0.587	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	protein_coding	OTTHUMT00000410902.2	G	NM_005197	-		89878531	-1	no_errors	ENST00000261302	ensembl	human	known	74_37	missense	SNP	0.998	A	A	89878531	G	A	89878531	3	1	11	1	0	0	0	0	1	0	0	0	6023	1174	41	2	1206	2	FOXN3	14	89878531	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	66311476	89878531	17471009	38	860											
LPCAT4	254531	genome.wustl.edu	37	chr15	34651374	34651374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacagtcccattggccagaGcagtggggttgcctggggat	16	10	0	1	rs150950234	byFrequency	TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr15:34651374G>T	ENST00000314891.6	-	14	1706	c.1529C>A	c.(1528-1530)gCt>gAt	p.A510D		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	510					cellular lipid metabolic process (GO:0044255)|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)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						ATTGGCCAGAGCAGTGGGGTT	0.627													G|||	3	0.000599042	0.0023	0	5008	,	,		11249	0		0	False		,,,				2504	0																0								ENSG00000176454	G	ASP/ALA	20,4382	26.2+/-53.5	0,20,2181	76	69	72		1529	5.7	0.8	15	dbSNP_134	72	0,8596		0,0,4298	yes	missense	LPCAT4	NM_153613.2	126	0,20,6479	TT,TG,GG		0.0,0.4543,0.1539	benign	510/525	34651374	20,12978	2201	4298	6499	LPCAT4	SO:0001583	missense	0			-	HGNC	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1529C>A	15.37:g.34651374G>T	ENSP00000317300:p.Ala510Asp	Somatic	0	9	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.A510D	ENST00000314891.6	37	c.1529	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159864	0.38119	0.004543	0.0	ENSG00000176454	ENST00000314891	D	0.81659	-1.52	5.66	5.66	0.87406	.	0.673372	0.15231	N	0.273422	T	0.70718	0.3256	L	0.36672	1.1	0.09310	N	0.999997	B	0.16166	0.016	B	0.12156	0.007	T	0.53760	-0.8393	10	0.12103	T	0.63	-2.9558	12.2436	0.54558	0.0:0.0:0.8303:0.1697	.	510	Q643R3	LPCT4_HUMAN	D	510	ENSP00000317300:A510D	ENSP00000317300:A510D	A	-	2	0	LPCAT4	32438666	0.955000	0.32602	0.770000	0.31555	0.645000	0.38454	2.914000	0.48797	2.666000	0.90696	0.491000	0.48974	GCT	-	NULL		0.627	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	protein_coding	OTTHUMT00000418028.2	G	NM_153613	rs150950234		34651374	-1	no_errors	ENST00000314891	ensembl	human	known	74_37	missense	SNP	0.196	T	T	34651374	G	T	34651374	3	4	11	1	0	0	0	0	1	0	0	0	8915	971	34	3	49	3	LPCAT4	15	34651374	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		34651374	67880018	39	861											
NARG2	79664	genome.wustl.edu	37	chr15	60741046	60741046	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtaaatatttacttaCgtccttttggcttctgaaat	5	7	2	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr15:60741046C>T	ENST00000261520.4	-	10	2354		c.e10+1		NARG2_ENST00000439632.1_Splice_Site	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TATTTACTTACGTCCTTTTGG	0.388																																																	0								ENSG00000128915						38	41	40					15																	60741046		2197	4291	6488	NARG2	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000261520.4:c.2119+1G>A	15.37:g.60741046C>T		Somatic	0	69	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40		Splice_Site	SNP							-	e9+1	ENST00000261520.4	37	c.2119+1	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613167	0.66672	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5327	0.75977	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NARG2	58528338	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.384000	0.44362	2.732000	0.93576	0.557000	0.71058	.	-	-		0.388	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	protein_coding	OTTHUMT00000256136.1	C		-	Intron	60741046	-1	no_errors	ENST00000261520	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	60741046	C	T	60741046	5	4	11	1	0	0	0	0	0	0	1	0	10171	550	19	1	856	1	NARG2	15	60741046	Splice_Site	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	26089672	60741046	41790346	40	862											
AP3B2	8120	genome.wustl.edu	37	chr15	83349336	83349336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaccgcggcgctgcggcTctgcagcaggggtttggtgt	16	13	1	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr15:83349336T>C	ENST00000261722.3	-	8	1150	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.S283G|AP3B2_ENST00000535359.1_Missense_Mutation_p.S315G	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	315					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCGCTGCGGCTCTGCAGCAGG	0.706																																																	0								ENSG00000103723						6	7	7					15																	83349336		1732	3849	5581	AP3B2	SO:0001583	missense	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.943A>G	15.37:g.83349336T>C	ENSP00000261722:p.Ser315Gly	Somatic	0	41	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.S315G	ENST00000261722.3	37	c.943	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	T	34	5.304343	0.95601	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.15952	2.38;2.38;2.38	4.9	4.9	0.64082	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	H	0.96460	3.825	0.80722	D	1	B;D;D	0.89917	0.426;1.0;1.0	B;D;D	0.91635	0.308;0.998;0.999	T	0.71094	-0.4692	10	0.72032	D	0.01	-23.2658	14.6797	0.69006	0.0:0.0:0.0:1.0	.	283;315;315	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	G	315;283;315	ENSP00000261722:S315G;ENSP00000438721:S283G;ENSP00000440984:S315G	ENSP00000261722:S315G	S	-	1	0	AP3B2	81146390	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.690000	0.84178	2.055000	0.61198	0.533000	0.62120	AGC	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.706	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	T		-		83349336	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	SNP	1.000	C	C	83349336	T	C	83349336	3	2	11	1	0	0	0	0	1	0	0	0	745	1551	54	5	2305	5	AP3B2	15	83349336	Missense_Mutation	SNP	T	TCGA-3B-A9HV-01A-11D-A38Z-09	22608290	83349336	19182056	41	863											
PLIN1	5346	genome.wustl.edu	37	chr15	90208828	90208828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgactcagctcttcttgcGcagctggctgtaatgcgtgc	13	12	3	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr15:90208828G>T	ENST00000300055.5	-	9	1720	c.1555C>A	c.(1555-1557)Cgc>Agc	p.R519S	PLIN1_ENST00000430628.2_Missense_Mutation_p.R519S	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	519					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)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CTCTTCTTGCGCAGCTGGCTG	0.672																																																	0								ENSG00000166819						2	2	2					15																	90208828		1377	2518	3895	PLIN1	SO:0001583	missense	0			-	HGNC	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.1555C>A	15.37:g.90208828G>T	ENSP00000300055:p.Arg519Ser	Somatic	0	26	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q8N5Y6	Missense_Mutation	SNP							pfam_Perilipin,pirsf_Perilipin	p.R519S	ENST00000300055.5	37	c.1555	CCDS10353.1	15	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706700	0.68615	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.17213	2.29;2.29	5.11	4.08	0.47627	.	0.542875	0.15904	N	0.238949	T	0.15003	0.0362	L	0.50333	1.59	0.31082	N	0.711861	P	0.42757	0.789	B	0.40101	0.319	T	0.06570	-1.0819	10	0.39692	T	0.17	-23.3134	5.6509	0.17616	0.174:0.0:0.826:0.0	.	519	O60240	PLIN1_HUMAN	S	519	ENSP00000300055:R519S;ENSP00000402167:R519S	ENSP00000300055:R519S	R	-	1	0	PLIN1	88009832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.030000	0.49720	2.380000	0.81148	0.655000	0.94253	CGC	-	NULL		0.672	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN1	protein_coding	OTTHUMT00000313424.2	G	NM_002666	-		90208828	-1	no_errors	ENST00000300055	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90208828	G	T	90208828	3	4	11	1	0	0	0	0	1	0	0	0	12091	1087	38	3	17	3	PLIN1	15	90208828	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	6859492	90208828	12322564	42	864											
ZNF48	197407	genome.wustl.edu	37	chr16	30410334	30410339	+	In_Frame_Del	DEL	AGCACC	AGCACC	-													tgacagttctgcccgcatcaAgcaccagcgtgggcacctgg							TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	AGCACC	AGCACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr16:30410334_30410339delAGCACC	ENST00000320159.2	+	2	2139_2144	c.1763_1768delAGCACC	c.(1762-1770)aagcaccag>aag	p.HQ589del		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	589					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)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCCCGCATCAAGCACCAGCGTGGGCA	0.592																																																	0								ENSG00000180035																																			ZNF48	SO:0001651	inframe_deletion	0				HGNC	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1763_1768delAGCACC	16.37:g.30410334_30410339delAGCACC	ENSP00000324056:p.His589_Gln590del	Somatic					0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q15920|Q4G0R3|Q69YP3|Q96IL9	In_Frame_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.HQ589in_frame_del	ENST00000320159.2	37	c.1763_1768	CCDS10679.1	16																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	protein_coding	OTTHUMT00000255549.2	AGCACC	NM_152652			30410339	1	no_errors	ENST00000320159	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-	-	30410339	AGCACC	-	30410334	7	5	11	1	0	1	0	1	0	0	0	0	17941	72	3	0	1769	0	ZNF48	16	30410334	In_Frame_Del	DEL	AGCACC	TCGA-3B-A9HV-01A-11D-A38Z-09		30410334	59944419	43	865											
ACSF3	197322	genome.wustl.edu	37	chr16	89187269	89187269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcagaaaacccacagaGggaagcctgctcctacacca	8	14	1	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr16:89187269G>A	ENST00000317447.4	+	7	1564	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	ACSF3_ENST00000406948.3_Missense_Mutation_p.R396K|ACSF3_ENST00000378345.4_Missense_Mutation_p.R131K	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	396					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AACCCACAGAGGGAAGCCTGC	0.602																																																	0								ENSG00000176715						158	155	156					16																	89187269		2198	4300	6498	ACSF3	SO:0001583	missense	0			-	HGNC	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1187G>A	16.37:g.89187269G>A	ENSP00000320646:p.Arg396Lys	Somatic	0	90	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.R396K	ENST00000317447.4	37	c.1187	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.414960	0.00191	.	.	ENSG00000176715	ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.18	-0.892	0.10570	AMP-dependent synthetase/ligase (1);	0.715654	0.12748	N	0.442459	T	0.13884	0.0336	N	0.01729	-0.75	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31586	-0.9938	10	0.02654	T	1	-14.6076	11.1145	0.48252	0.5426:0.0:0.4574:0.0	.	396	Q4G176	ACSF3_HUMAN	K	396;131;396;131;131	ENSP00000320646:R396K;ENSP00000445397:R131K;ENSP00000384627:R396K;ENSP00000367596:R131K;ENSP00000442781:R131K	ENSP00000320646:R396K	R	+	2	0	ACSF3	87714770	0.020000	0.18652	0.100000	0.21137	0.002000	0.02628	0.423000	0.21313	-0.548000	0.06199	-1.080000	0.02220	AGG	-	pfam_AMP-dep_Synth/Lig		0.602	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	protein_coding	OTTHUMT00000269919.1	G	NM_174917	-		89187269	1	no_errors	ENST00000317447	ensembl	human	known	74_37	missense	SNP	0.004	A	A	89187269	G	A	89187269	3	1	11	1	0	0	0	0	1	0	0	0	176	1000	35	2	1205	2	ACSF3	16	89187269	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	58776935	89187269	1167484	44	866											
CDH15	1013	genome.wustl.edu	37	chr16	89246736	89246736	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcctcaatgccatgctGgaccgcgagaagactgatcg	11	12	2	3			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr16:89246736G>T	ENST00000289746.2	+	3	395	c.330G>T	c.(328-330)ctG>ctT	p.L110L	CDH15_ENST00000521087.1_Intron	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ATGCCATGCTGGACCGCGAGA	0.632																																																	0								ENSG00000129910						64	50	54					16																	89246736		2197	4300	6497	CDH15	SO:0001819	synonymous_variant	0			-	HGNC	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.330G>T	16.37:g.89246736G>T		Somatic	0	34	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L110	ENST00000289746.2	37	c.330	CCDS10976.1	16																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.632	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	protein_coding	OTTHUMT00000269920.1	G	NM_004933	-		89246736	1	no_errors	ENST00000289746	ensembl	human	known	74_37	silent	SNP	1.000	T	T	89246736	G	T	89246736	2	4	11	1	0	0	0	0	0	0	0	1	3102	1335	47	3		3	CDH15	16	89246736	Silent	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	59467	89246736	1108017	45	867											
ALOX12	239	genome.wustl.edu	37	chr17	6913399	6913399	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtccggcaggcctgtcTtcaaatggccatctcatggc	11	12	3	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr17:6913399T>A	ENST00000251535.6	+	13	1819	c.1766T>A	c.(1765-1767)cTt>cAt	p.L589H	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Missense_Mutation_p.E6D|RNASEK_ENST00000548577.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron|RNASEK_ENST00000402093.1_5'Flank	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	589	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGGCCTGTCTTCAAATGGCC	0.562																																																	0								ENSG00000108839						70	59	63					17																	6913399		2203	4300	6503	ALOX12	SO:0001583	missense	0			-	HGNC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1766T>A	17.37:g.6913399T>A	ENSP00000251535:p.Leu589His	Somatic	0	30	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.L589H	ENST00000251535.6	37	c.1766	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208887	0.79240	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	T	0.80393	-1.37	4.96	4.96	0.65561	Lipoxygenase, C-terminal (3);	0.299613	0.32314	N	0.006277	D	0.85911	0.5807	M	0.62266	1.93	0.45837	D	0.998707	D	0.89917	1.0	D	0.72982	0.979	D	0.83865	0.0270	10	0.28530	T	0.3	.	10.9542	0.47347	0.0:0.0:0.0:1.0	.	589	P18054	LOX12_HUMAN	H	589;59	ENSP00000251535:L589H	ENSP00000251535:L589H	L	+	2	0	ALOX12	6854123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.577000	0.60922	2.092000	0.63282	0.377000	0.23210	CTT	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.562	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	protein_coding	OTTHUMT00000219922.2	T		-		6913399	1	no_errors	ENST00000251535	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6913399	T	A	6913399	3	1	11	1	0	0	0	0	1	0	0	0	536	1609	56	5	1816	5	ALOX12	17	6913399	Missense_Mutation	SNP	T	TCGA-3B-A9HV-01A-11D-A38Z-09		6913399	74281811	46	868											
TP53	7157	genome.wustl.edu	37	chr17	7578177	7578177	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccagttgcaaaccagacCtcaggcggctcatagggcac	10	15	2	1	rs267605076		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr17:7578177C>A	ENST00000269305.4	-	6	861	c.672G>T	c.(670-672)gaG>gaT	p.E224D	TP53_ENST00000413465.2_Splice_Site_p.E224D|TP53_ENST00000445888.2_Splice_Site_p.E224D|TP53_ENST00000359597.4_Splice_Site_p.E224D|TP53_ENST00000420246.2_Splice_Site_p.E224D|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site_p.E224D	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|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)	CAAACCAGACCTCAGGCGGCT	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)						ENSG00000141510						81	76	78					17																	7578177		2203	4300	6503	TP53	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;	-	HGNC	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.672+1G>T	17.37:g.7578177C>A		Somatic	0	93	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	56	39.78	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E224D	ENST00000269305.4	37	c.672	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551846	0.65311	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	5.28	4.31	0.51392	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057313	0.64402	D	0.000001	D	0.99230	0.9732	L	0.59436	1.845	0.51233	D	0.999915	B;B;B;B;B;B;B	0.28636	0.005;0.001;0.218;0.001;0.001;0.001;0.002	B;B;B;B;B;B;B	0.37346	0.015;0.017;0.247;0.002;0.03;0.037;0.006	D	0.99917	1.1232	10	0.87932	D	0	-13.9223	12.1312	0.53944	0.0:0.9158:0.0:0.0842	.	185;224;224;131;224;224;224	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	224;224;224;224;224;224;213;131;92;131	ENSP00000410739:E224D;ENSP00000352610:E224D;ENSP00000269305:E224D;ENSP00000398846:E224D;ENSP00000391127:E224D;ENSP00000391478:E224D;ENSP00000425104:E92D;ENSP00000423862:E131D	ENSP00000269305:E224D	E	-	3	2	TP53	7518902	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.040000	0.70980	1.362000	0.46000	0.563000	0.77884	GAG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Missense_Mutation	7578177	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7578177	C	A	7578177	5	1	11	1	0	0	0	0	0	0	1	0	16388	695	24	3	622	3	TP53	17	7578177	Splice_Site	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09	664778	7578177	73617033	47	869											
TP53	7157	genome.wustl.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	12	9	0	3			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> 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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(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)	CACTCGGATAAGATGCTGAGG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)						ENSG00000141510						97	87	90					17																	7578268		2203	4300	6503	TP53	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;	-	HGNC	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	Somatic	0	89	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	43	46.25	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L194R	ENST00000269305.4	37	c.581	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	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	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	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	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578268	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.996	C	C	7578268	A	C	7578268	3	2	11	1	0	0	0	0	1	0	0	0	16388	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09	91	7578268	73616942	48	870											
DNAH2	146754	genome.wustl.edu	37	chr17	7727575	7727575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgtccctgggccaggGccaggcccccatcgctgctc	12	20	0	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr17:7727575G>A	ENST00000572933.1	+	76	13075	c.11615G>A	c.(11614-11616)gGc>gAc	p.G3872D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3872D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3872	AAA 6. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGGCCAGGGCCAGGCCCCC	0.652																																																	0								ENSG00000183914						38	36	37					17																	7727575		2203	4300	6503	DNAH2	SO:0001583	missense	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11615G>A	17.37:g.7727575G>A	ENSP00000458355:p.Gly3872Asp	Somatic	0	27	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G3872D	ENST00000572933.1	37	c.11615	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849221	0.91277	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.15139	2.45	4.72	4.72	0.59763	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.71560	-0.4556	10	0.87932	D	0	.	16.4313	0.83844	0.0:0.0:1.0:0.0	.	3833;3872	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3833;3872	ENSP00000373825:G3872D	ENSP00000353818:G3833D	G	+	2	0	DNAH2	7668300	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.387000	0.97232	2.177000	0.69029	0.407000	0.27541	GGC	-	pfam_Dynein_heavy_dom		0.652	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-		7727575	1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7727575	G	A	7727575	3	1	11	1	0	0	0	0	1	0	0	0	4604	1203	42	2	11913	2	DNAH2	17	7727575	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	149307	7727575	73467635	49	871											
TIMM44	10469	genome.wustl.edu	37	chr19	7998995	7998995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagagggctctgaaggcCgctgtcctgcccagcttctc	14	13	2	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr19:7998995C>T	ENST00000270538.3	-	5	790	c.522G>A	c.(520-522)gcG>gcA	p.A174A	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	174					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTCTGAAGGCCGCTGTCCTGC	0.682																																																	0								ENSG00000104980						74	80	78					19																	7998995		2203	4300	6503	TIMM44	SO:0001819	synonymous_variant	0			-	HGNC	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.522G>A	19.37:g.7998995C>T		Somatic	0	68	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	A8K0R9|D6W664|Q8N193	Silent	SNP							pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44	p.A174	ENST00000270538.3	37	c.522	CCDS12192.1	19																																																																																			-	pirsf_Tim44,tigrfam_Tim44		0.682	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	protein_coding	OTTHUMT00000461596.3	C		-		7998995	-1	no_errors	ENST00000270538	ensembl	human	known	74_37	silent	SNP	0.004	T	T	7998995	C	T	7998995	2	4	11	1	0	0	0	0	0	0	0	1	15919	639	23	1		1	TIMM44	19	7998995	Silent	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09		7998995	51129988	50	872											
MUC16	94025	genome.wustl.edu	37	chr19	9084380	9084397	+	In_Frame_Del	DEL	CCATGGTGCTGAAAGTTC	CCATGGTGCTGAAAGTTC	-													ggaggcagtgtcagtgctgaCcatggtgctgaaagttctta							TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	CCATGGTGCTGAAAGTTC	CCATGGTGCTGAAAGTTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr19:9084380_9084397delCCATGGTGCTGAAAGTTC	ENST00000397910.4	-	1	7621_7638	c.7418_7435delGAACTTTCAGCACCATGG	c.(7417-7437)agaactttcagcaccatggtc>atc	p.2473_2479RTFSTMV>I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2473	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)		p.M2478V(2)		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						TCAGTGCTGACCATGGTGCTGAAAGTTCTTACTGGTCT	0.523											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					2	Substitution - Missense(2)	lung(2)						ENSG00000181143																																			MUC16	SO:0001651	inframe_deletion	0				HGNC	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.7418_7435delGAACTTTCAGCACCATGG	19.37:g.9084380_9084397delCCATGGTGCTGAAAGTTC	ENSP00000381008:p.Arg2473_Val2479delinsIle	Somatic				654	0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6ZQW5|Q96RK2	In_Frame_Del	DEL							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.RTFSTMV2473in_frame_delI	ENST00000397910.4	37	c.7435_7418	CCDS54212.1	19																																																																																			-	NULL		0.523	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	CCATGGTGCTGAAAGTTC	NM_024690			9084397	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	in_frame_del	DEL	0.086:0.087:0.086:0.095:0.103:0.108:0.112:0.114:0.114:0.112:0.109:0.104:0.098:0.089:0.079:0.066:0.051:0.033	-	-	9084397	CCATGGTGCTGAAAGTTC	-	9084380	7	5	11	1	0	1	0	1	0	0	0	0	9975	507	18	0	36424	0	MUC16	19	9084380	In_Frame_Del	DEL	CCATGGTGCTGAAAGTTC	TCGA-3B-A9HV-01A-11D-A38Z-09	1085385	9084380	50044603	51	873											
TBCB	1155	genome.wustl.edu	37	chr19	36606551	36606551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgagaagcgatacagccGcagcctcaccatcgctgagt	10	15	1	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr19:36606551G>A	ENST00000221855.3	+	1	664	c.89G>A	c.(88-90)cGc>cAc	p.R30H	TBCB_ENST00000586868.1_5'Flank|TBCB_ENST00000589996.1_Missense_Mutation_p.R30H|POLR2I_ENST00000221859.4_5'Flank|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000585746.1_5'Flank	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	30					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGATACAGCCGCAGCCTCACC	0.667																																																	0								ENSG00000105254						31	21	25					19																	36606551		2202	4299	6501	TBCB	SO:0001583	missense	0			-	HGNC	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.89G>A	19.37:g.36606551G>A	ENSP00000221855:p.Arg30His	Somatic	0	72	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.R30H	ENST00000221855.3	37	c.89	CCDS12488.1	19	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980985	0.92982	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.91577	-2.87	5.33	4.3	0.51218	.	0.068324	0.64402	D	0.000001	D	0.87939	0.6304	M	0.74881	2.28	0.80722	D	1	B	0.34313	0.448	B	0.25759	0.063	D	0.86029	0.1512	10	0.41790	T	0.15	-17.774	11.6949	0.51538	0.0866:0.0:0.9134:0.0	.	30	Q99426	TBCB_HUMAN	H	30	ENSP00000221855:R30H	ENSP00000221855:R30H	R	+	2	0	TBCB	41298391	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	5.962000	0.70364	1.255000	0.44051	0.484000	0.47621	CGC	-	NULL		0.667	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCB	protein_coding	OTTHUMT00000156291.2	G	NM_001281	-		36606551	1	no_errors	ENST00000221855	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36606551	G	A	36606551	3	1	11	1	0	0	0	0	1	0	0	0	15637	1087	38	1	91	1	TBCB	19	36606551	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	27522171	36606551	22522432	52	874											
PREX1	57580	genome.wustl.edu	37	chr20	47274767	47274767	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctcctcctggggcaggatCtgggggcccagggcagaagg	17	12	1	1			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr20:47274767C>A	ENST00000371941.3	-	17	1904		c.e17-1		PREX1_ENST00000396220.1_Splice_Site	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGGCAGGATCTGGGGGCCCA	0.657											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000124126						162	151	155					20																	47274767		2203	4300	6503	PREX1	SO:0001630	splice_region_variant	0			-	HGNC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1882-1G>T	20.37:g.47274767C>A		Somatic	0	38	0	945	0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP							-	e17-1	ENST00000371941.3	37	c.1882-1	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764894	0.90020	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2743	0.90078	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREX1	46708174	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	7.303000	0.78871	2.284000	0.76573	0.655000	0.94253	.	-	-		0.657	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	C	NM_020820	-	Intron	47274767	-1	no_errors	ENST00000371941	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	47274767	C	A	47274767	5	1	11	1	0	0	0	0	0	0	1	0	12481	927	32	3	3194	3	PREX1	20	47274767	Splice_Site	SNP	C	TCGA-3B-A9HV-01A-11D-A38Z-09		47274767	15750753	53	875											
MYT1	4661	genome.wustl.edu	37	chr20	62848497	62848497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcccccgccacacccaGggccaacttggccaaggagc	12	18	0	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr20:62848497G>T	ENST00000328439.1	+	11	2073	c.1709G>T	c.(1708-1710)aGg>aTg	p.R570M	MYT1_ENST00000536311.1_Missense_Mutation_p.R570M|MYT1_ENST00000360149.4_Missense_Mutation_p.R272M	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCACACCCAGGGCCAACTTG	0.587																																					GBM(59;481 1041 20555 21139 33705)												0								ENSG00000196132						83	82	82					20																	62848497		2203	4300	6503	MYT1	SO:0001583	missense	0			-	HGNC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1709G>T	20.37:g.62848497G>T	ENSP00000327465:p.Arg570Met	Somatic	0	51	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.R570M	ENST00000328439.1	37	c.1709	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072278	0.76415	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61040	0.14;0.14;0.14	5.67	5.67	0.87782	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.78453	-0.2198	10	0.87932	D	0	-34.8498	19.773	0.96379	0.0:0.0:1.0:0.0	.	570;570;272	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	M	272;570;570	ENSP00000353269:R272M;ENSP00000327465:R570M;ENSP00000442412:R570M	ENSP00000327465:R570M	R	+	2	0	MYT1	62318941	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.725000	0.98778	2.677000	0.91161	0.655000	0.94253	AGG	-	pfam_Myelin_TF		0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	protein_coding	OTTHUMT00000080297.1	G	NM_004535	-		62848497	1	no_errors	ENST00000536311	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62848497	G	T	62848497	3	4	11	1	0	0	0	0	1	0	0	0	10108	1000	35	3	1743	3	MYT1	20	62848497	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	15573730	62848497	177023	54	876											
TIAM1	7074	genome.wustl.edu	37	chr21	32638611	32638611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggaattggctctctgAcaggtgctgagctgccgcgg	14	12	1	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr21:32638611A>C	ENST00000286827.3	-	5	1149	c.678T>G	c.(676-678)tgT>tgG	p.C226W	TIAM1_ENST00000541036.1_Missense_Mutation_p.C226W|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	226					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGCTCTCTGACAGGTGCTGA	0.562																																																	0								ENSG00000156299						62	67	65					21																	32638611		2203	4300	6503	TIAM1	SO:0001583	missense	0			-	HGNC		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.678T>G	21.37:g.32638611A>C	ENSP00000286827:p.Cys226Trp	Somatic	0	20	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.C226W	ENST00000286827.3	37	c.678	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183119	0.57800	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.41065	1.02;1.01	5.41	1.77	0.24775	.	0.453195	0.28203	N	0.016210	T	0.39489	0.1080	L	0.36672	1.1	0.54753	D	0.999988	D;D;D	0.59767	0.986;0.975;0.975	P;P;P	0.52554	0.702;0.506;0.602	T	0.21552	-1.0242	10	0.72032	D	0.01	.	7.3886	0.26897	0.5998:0.0:0.4002:0.0	.	226;226;226	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	W	226;67;226	ENSP00000286827:C226W;ENSP00000441570:C226W	ENSP00000286827:C226W	C	-	3	2	TIAM1	31560482	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.451000	0.35145	0.498000	0.27948	0.482000	0.46254	TGT	-	NULL		0.562	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	protein_coding	OTTHUMT00000192552.1	A	NM_003253	-		32638611	-1	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	SNP	0.997	C	C	32638611	A	C	32638611	3	2	11	1	0	0	0	0	1	0	0	0	15897	273	10	5	4197	5	TIAM1	21	32638611	Missense_Mutation	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09		32638611	15491284	55	877											
CRELD2	79174	genome.wustl.edu	37	chr22	50315953	50315953	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcagcagtcaggaccGgcctctccgattcttacccg	9	18	4	0	rs377640443|rs386822607|rs386822606|rs368043307|rs71805922|rs386822608		TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chr22:50315953G>A	ENST00000328268.4	+	6	666				CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000404488.3_Missense_Mutation_p.G201S	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCAGGACCGGCCTCTCCGA	0.637																																																	0								ENSG00000184164	G	SER/GLY,	0,3084		0,0,1542	25	29	28		601,	-1.8	0	22		28	1,7149		0,1,3574	no	missense,intron	CRELD2	NM_001135101.1,NM_024324.3	56,	0,1,5116	AA,AG,GG		0.014,0.0,0.0098	probably-damaging,	201/403,	50315953	1,10233	1542	3575	5117	CRELD2	SO:0001627	intron_variant	0			-	HGNC	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-307G>A	22.37:g.50315953G>A		Somatic	0	71	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	51	27.14	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP							pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G201S	ENST00000328268.4	37	c.601	CCDS14082.1	22	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249614	0.22880	0.0	1.4E-4	ENSG00000184164	ENST00000404488	T	0.52754	0.65	1.5	-1.81	0.07882	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	B	0.22080	0.064	B	0.08055	0.003	T	0.15723	-1.0427	8	0.42905	T	0.14	.	1.7098	0.02890	0.292:0.0:0.3994:0.3086	.	201	Q6UXH1-5	.	S	201	ENSP00000383938:G201S	ENSP00000383938:G201S	G	+	1	0	CRELD2	48701957	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.082000	0.01365	-0.417000	0.07461	0.563000	0.77884	GGC	-	superfamily_Growth_fac_rcpt_N_dom		0.637	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CRELD2	protein_coding	OTTHUMT00000317409.1	G	NM_024324	-		50315953	1	no_errors	ENST00000404488	ensembl	human	known	74_37	missense	SNP	0.000	A	A	50315953	G	A	50315953	1	1	11	0	1	0	0	0	0	0	0	0	3869	1116	39	1		1	CRELD2	22	50315953	Intron	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09		50315953	988613	56	878											
ZFX	7543	genome.wustl.edu	37	chrX	24227114	24227114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagactggctaaacaaaaAccaaagaaaaggagaagacc	10	8	0	4			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chrX:24227114A>C	ENST00000379177.1	+	10	1618	c.1191A>C	c.(1189-1191)aaA>aaC	p.K397N	ZFX_ENST00000379188.3_Missense_Mutation_p.K397N|ZFX_ENST00000304543.5_Missense_Mutation_p.K397N|ZFX_ENST00000539115.1_Missense_Mutation_p.K168N|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Missense_Mutation_p.K436N|ZFX_ENST00000338565.3_Missense_Mutation_p.K347N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	397					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTAAACAAAAACCAAAGAAAA	0.507																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0								ENSG00000005889						107	87	94					X																	24227114		2203	4300	6503	ZFX	SO:0001583	missense	0			-	HGNC		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1191A>C	X.37:g.24227114A>C	ENSP00000368475:p.Lys397Asn	Somatic	0	80	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	46	47.73	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP							pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K436N	ENST00000379177.1	37	c.1308	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112252	0.56398	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.21	5.21	0.72293	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000001	T	0.72898	0.3518	M	0.75777	2.31	0.39040	D	0.960115	D;D;D;D	0.89917	1.0;0.998;0.997;1.0	D;D;D;D	0.91635	0.999;0.943;0.994;0.999	T	0.76780	-0.2833	10	0.59425	D	0.04	0.0156	9.4497	0.38719	0.9161:0.0:0.0839:0.0	.	436;248;397;401	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	N	168;397;248;397;397;436;347	ENSP00000438233:K168N;ENSP00000368486:K397N;ENSP00000368475:K397N;ENSP00000304985:K397N;ENSP00000441382:K436N;ENSP00000343384:K347N	ENSP00000304985:K397N	K	+	3	2	ZFX	24137035	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.688000	0.54699	1.717000	0.51406	0.345000	0.21793	AAA	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.507	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	protein_coding	OTTHUMT00000056084.1	A	NM_003410	-		24227114	1	no_errors	ENST00000540034	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24227114	A	C	24227114	3	2	11	1	0	0	0	0	1	0	0	0	17668	40	2	5	1213	5	ZFX	23	24227114	Missense_Mutation	SNP	A	TCGA-3B-A9HV-01A-11D-A38Z-09		24227114	131043446	57	879											
ZNF630	57232	genome.wustl.edu	37	chrX	47920220	47920220	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggagaccaggtgattataGgtctccagcatcacatccct	9	12	2	2			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chrX:47920220G>T	ENST00000409324.3	-	3	346	c.120C>A	c.(118-120)acC>acA	p.T40T	ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000442455.3_Silent_p.T26T|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	40	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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GGTGATTATAGGTCTCCAGCA	0.493																																																	0								ENSG00000221994						79	60	66					X																	47920220		1557	3570	5127	ZNF630	SO:0001819	synonymous_variant	0			-	HGNC	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.120C>A	X.37:g.47920220G>T		Somatic	0	43	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	F8WAG4|Q5H8Z5	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T40	ENST00000409324.3	37	c.120	CCDS35237.2	X																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.493	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	protein_coding	OTTHUMT00000327254.1	G	NM_001037735	-		47920220	-1	no_errors	ENST00000409324	ensembl	human	known	74_37	silent	SNP	0.052	T	T	47920220	G	T	47920220	2	4	11	1	0	0	0	0	0	0	0	1	18061	987	35	3		3	ZNF630	23	47920220	Silent	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	23693106	47920220	107350340	58	880											
ERAS	3266	genome.wustl.edu	37	chrX	48687960	48687960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacctggggccctcaccccGcccagccccttgtcctcgtg	9	22	1	0			TCGA-3B-A9HV-01A-11D-A38Z-09	TCGA-3B-A9HV-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e3a9307-4a27-4bd1-8c70-7dca0b907ebc	c7eb9676-9cbf-4977-8a8e-8eaaf7d01533	g.chrX:48687960G>T	ENST00000338270.1	+	1	678	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	143					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CCCTCACCCCGCCCAGCCCCT	0.647																																																	0								ENSG00000187682						37	33	34					X																	48687960		2203	4300	6503	ERAS	SO:0001583	missense	0			-	HGNC	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.427G>T	X.37:g.48687960G>T	ENSP00000339136:p.Ala143Ser	Somatic	0	60	0		0.67675024371209				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86		Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A143S	ENST00000338270.1	37	c.427	CCDS35246.1	X	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.755632	0.00663	.	.	ENSG00000187682	ENST00000338270	T	0.68765	-0.35	4.13	0.374	0.16183	Small GTP-binding protein domain (1);	1.195120	0.06337	N	0.707232	T	0.39733	0.1089	N	0.03238	-0.38	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.20438	-1.0275	10	0.33940	T	0.23	.	3.7754	0.08657	0.4508:0.2017:0.3474:0.0	.	143	Q7Z444	RASE_HUMAN	S	143	ENSP00000339136:A143S	ENSP00000339136:A143S	A	+	1	0	ERAS	48572904	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.088000	0.14979	-0.037000	0.13646	-0.347000	0.07816	GCC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.647	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAS	protein_coding	OTTHUMT00000132402.1	G	NM_181532	-		48687960	1	no_errors	ENST00000338270	ensembl	human	known	74_37	missense	SNP	0.001	T	T	48687960	G	T	48687960	3	4	11	1	0	0	0	0	1	0	0	0	5207	1087	38	3	429	3	ERAS	23	48687960	Missense_Mutation	SNP	G	TCGA-3B-A9HV-01A-11D-A38Z-09	767740	48687960	106582600	59	881											
YARS	8565	genome.wustl.edu	37	chr1	33282793	33282793	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccccaggcctgacctgcAggttccgggtgataaggtgc	13	13	0	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr1:33282793A>C	ENST00000373477.4	-	1	961	c.53T>G	c.(52-54)cTg>cGg	p.L18R	S100PBP_ENST00000398243.3_5'Flank|S100PBP_ENST00000373475.5_5'Flank|S100PBP_ENST00000373476.1_5'Flank	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	18					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCTGACCTGCAGGTTCCGGGT	0.627																																																	0								ENSG00000134684						109	107	108					1																	33282793		2203	4300	6503	YARS	SO:0001583	missense	0			-	HGNC	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.53T>G	1.37:g.33282793A>C	ENSP00000362576:p.Leu18Arg	Somatic	0	265	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	112	20.57	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase	p.L18R	ENST00000373477.4	37	c.53	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	A	31	5.104000	0.94245	.	.	ENSG00000134684	ENST00000373477	T	0.74842	-0.88	5.23	5.23	0.72850	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92188	0.5757	10	0.72032	D	0.01	-8.5665	15.4172	0.74980	1.0:0.0:0.0:0.0	.	18	P54577	SYYC_HUMAN	R	18	ENSP00000362576:L18R	ENSP00000362576:L18R	L	-	2	0	YARS	33055380	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.826000	0.86716	2.110000	0.64415	0.459000	0.35465	CTG	-	tigrfam_Tyr-tRNA-ligase		0.627	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	protein_coding	OTTHUMT00000011225.1	A	NM_003680	-		33282793	-1	no_errors	ENST00000373477	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33282793	A	C	33282793	3	2	12	1	0	0	0	0	1	0	0	0	17474	188	7	5	1585	5	YARS	1	33282793	Missense_Mutation	SNP	A	TCGA-3B-A9HX-01A-11D-A38Z-09		33282793	215967828	1	882											
USH2A	7399	genome.wustl.edu	37	chr1	216246286	216246286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatactgaacctccttcatgCgaggctatcactcgatacag	7	12	2	1	rs149776188	byFrequency	TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr1:216246286C>T	ENST00000307340.3	-	29	6188	c.5802G>A	c.(5800-5802)tcG>tcA	p.S1934S	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Silent_p.S1934S|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1934	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTTCATGCGAGGCTATCA	0.403										HNSCC(13;0.011)			C|||	6	0.00119808	0.0045	0	5008	,	,		20872	0		0	False		,,,				2504	0																0								ENSG00000042781	C		6,4400	12.9+/-30.5	0,6,2197	137	120	126		5802	-12	0	1	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538		1934/5203	216246286	7,12999	2203	4300	6503	USH2A	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5802G>A	1.37:g.216246286C>T		Somatic	0	22	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	74	13.95	Q5VVM9|Q6S362|Q9NS27	Silent	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1934	ENST00000307340.3	37	c.5802	CCDS31025.1	1																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123	rs149776188		216246286	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	SNP	0.007	T	T	216246286	C	T	216246286	2	4	12	1	0	0	0	0	0	0	0	1	17043	755	27	1		1	USH2A	1	216246286	Silent	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	182963493	216246286	33004335	2	883											
OBSCN	84033	genome.wustl.edu	37	chr1	228560353	228560353	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaggtgatgcggaggcgGccgacacaatatccctggac	14	11	1	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr1:228560353G>C	ENST00000422127.1	+	94	21918	c.21874G>C	c.(21874-21876)Gcc>Ccc	p.A7292P	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4926P|OBSCN_ENST00000570156.2_Missense_Mutation_p.A8249P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7292					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)				TGCGGAGGCGGCCGACACAAT	0.592																																																	0								ENSG00000154358						24	28	27					1																	228560353		2014	4171	6185	OBSCN	SO:0001583	missense	0			-	HGNC	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.21874G>C	1.37:g.228560353G>C	ENSP00000409493:p.Ala7292Pro	Somatic	0	168	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	88	8.33	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A7292P	ENST00000422127.1	37	c.21874	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.47|17.47	3.397384|3.397384	0.62177|0.62177	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.63580|.	-0.05;-0.0|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	T|T	0.51873|0.51873	0.1700|0.1700	L|L	0.27053|0.27053	0.805|0.805	0.45594|0.45594	D|D	0.998538|0.998538	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.46679|0.46679	-0.9174|-0.9174	9|5	0.33940|.	T|.	0.23|.	.|.	12.9551|12.9551	0.58424|0.58424	0.0:0.2137:0.7863:0.0|0.0:0.2137:0.7863:0.0	.|.	7292|.	Q5VST9|.	OBSCN_HUMAN|.	P|A	7292;4926|1908	ENSP00000409493:A7292P;ENSP00000355668:A4926P|.	ENSP00000355668:A4926P|.	A|G	+|+	1|2	0|0	OBSCN|OBSCN	226626976|226626976	0.086000|0.086000	0.21541|0.21541	0.143000|0.143000	0.22291|0.22291	0.130000|0.130000	0.20726|0.20726	2.805000|2.805000	0.47939|0.47939	2.489000|2.489000	0.83994|0.83994	0.491000|0.491000	0.48974|0.48974	GCC|GGC	-	NULL		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228560353	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.020	C	C	228560353	G	C	228560353	3	2	12	1	0	0	0	0	1	0	0	0	10814	1203	42	4	23454	4	OBSCN	1	228560353	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	12314067	228560353	20690268	3	884											
DNMT3A	1788	genome.wustl.edu	37	chr2	25536821	25536822	+	Frame_Shift_Ins	INS	-	-	A													ccgcagcagagctgctggtgINStccccggggccgctggaggg							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr2:25536821_25536822insA	ENST00000264709.3	-	2	369_370	c.32_33insT	c.(31-33)gacfs	p.D11fs	DNMT3A_ENST00000406659.3_Frame_Shift_Ins_p.D11fs|DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.D11fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	11					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)					AGCTGCTGGTGTCCCCGGGGCC	0.713			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0								ENSG00000119772																																			DNMT3A	SO:0001589	frameshift_variant	0				HGNC		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.32_33insT	2.37:g.25536821_25536822insA	ENSP00000264709:p.Asp11fs	Somatic	0	177	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Ins	INS							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.T12fs	ENST00000264709.3	37	c.33_32	CCDS33157.1	2																																																																																			-	NULL		0.713	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	-	NM_022552			25536822	-1	no_errors	ENST00000264709	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	25536822	-	A	25536821	7	5	12	1	0	1	1	0	0	0	0	0	4678	1368	48	0	2926	0	DNMT3A	2	25536821	Frame_Shift_Ins	INS	-	TCGA-3B-A9HX-01A-11D-A38Z-09		25536821	217662552	4	885	5	2									
DNMT3A	1788	genome.wustl.edu	37	chr2	25536823	25536824	+	Frame_Shift_Del	DEL	CC	CC	-													cgcagcagagctgctggtgtCcccggggccgctggagggca							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr2:25536823_25536824delCC	ENST00000264709.3	-	2	367_368	c.30_31delGG	c.(28-33)ggggacfs	p.D11fs	DNMT3A_ENST00000406659.3_Frame_Shift_Del_p.D11fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.D11fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	11					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)					CTGCTGGTGTCCCCGGGGCCGC	0.718			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0								ENSG00000119772																																			DNMT3A	SO:0001589	frameshift_variant	0				HGNC		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.30_31delGG	2.37:g.25536825_25536826delCC	ENSP00000264709:p.Asp11fs	Somatic	0	172	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	63	29.21	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.D11fs	ENST00000264709.3	37	c.31_30	CCDS33157.1	2																																																																																			-	NULL		0.718	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	CC	NM_022552			25536824	-1	no_errors	ENST00000264709	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	25536824	CC	-	25536823	7	5	12	1	0	1	0	1	0	0	0	0	4678	855	30	0	2928	0	DNMT3A	2	25536823	Frame_Shift_Del	DEL	CC	TCGA-3B-A9HX-01A-11D-A38Z-09	2	25536823	217662550	5	886	5	2									
C2orf78	388960	genome.wustl.edu	37	chr2	74043560	74043560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgacatgtttctcggcGgccaaaccctctagcctcac	8	16	3	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr2:74043560G>A	ENST00000409561.1	+	3	2331	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	737										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GTTTCTCGGCGGCCAAACCCT	0.542																																																	0								ENSG00000187833						196	202	200					2																	74043560		2091	4214	6305	C2orf78	SO:0001583	missense	0			-	HGNC	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2210G>A	2.37:g.74043560G>A	ENSP00000387124:p.Arg737Gln	Somatic	0	34	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	21	57.14		Missense_Mutation	SNP							NULL	p.R737Q	ENST00000409561.1	37	c.2210	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387456	0.61956	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.46451	0.87	5.23	0.824	0.18818	.	0.547369	0.16577	N	0.208374	T	0.49966	0.1588	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	P	0.61477	0.889	T	0.31447	-0.9943	10	0.51188	T	0.08	-8.9192	6.3866	0.21563	0.4601:0.0:0.5399:0.0	.	737	A6NCI8	CB078_HUMAN	Q	737;707	ENSP00000387124:R737Q	ENSP00000340692:R707Q	R	+	2	0	C2orf78	73897068	0.926000	0.31397	0.026000	0.17262	0.003000	0.03518	0.856000	0.27818	0.313000	0.23062	0.563000	0.77884	CGG	-	NULL		0.542	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	protein_coding	OTTHUMT00000328083.1	G	NM_001080474	-		74043560	1	no_errors	ENST00000409561	ensembl	human	novel	74_37	missense	SNP	0.022	A	A	74043560	G	A	74043560	3	1	12	1	0	0	0	0	1	0	0	0	2197	1116	39	1	2220	1	C2orf78	2	74043560	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	48506737	74043560	169155813	6	887											
FAM123C	205147	genome.wustl.edu	37	chr2	131520382	131520382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactccagagcttcgactCgctcacgggttgtggggagg	14	12	2	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr2:131520382C>T	ENST00000423981.1	+	2	847	c.737C>T	c.(736-738)tCg>tTg	p.S246L	AMER3_ENST00000321420.4_Missense_Mutation_p.S246L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	246					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCTTCGACTCGCTCACGGGT	0.642																																																	0								ENSG00000178171						63	72	69					2																	131520382		2203	4300	6503	AMER3	SO:0001583	missense	0			-	HGNC	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.737C>T	2.37:g.131520382C>T	ENSP00000392700:p.Ser246Leu	Somatic	0	94	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	B7ZLH6	Missense_Mutation	SNP							pfam_Uncharacterised_FAM123	p.S246L	ENST00000423981.1	37	c.737	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542408	0.65198	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.43294	0.95;0.95	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.66458	0.2791	M	0.77103	2.36	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	T	0.70421	-0.4876	10	0.87932	D	0	.	16.6282	0.84992	0.0:1.0:0.0:0.0	.	246	Q8N944	F123C_HUMAN	L	246	ENSP00000314914:S246L;ENSP00000392700:S246L	ENSP00000314914:S246L	S	+	2	0	FAM123C	131236852	1.000000	0.71417	0.952000	0.39060	0.084000	0.17831	6.971000	0.76105	2.597000	0.87782	0.561000	0.74099	TCG	-	pfam_Uncharacterised_FAM123		0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	protein_coding	OTTHUMT00000254531.3	C	NM_152698	-		131520382	1	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	SNP	0.999	T	T	131520382	C	T	131520382	3	4	12	1	0	0	0	0	1	0	0	0	5426	893	31	1	739	1	FAM123C	2	131520382	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	57476822	131520382	111678991	7	888											
ALS2	57679	genome.wustl.edu	37	chr2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaccatgaccatgacGcatattatcttgaaaacagc	7	9	1	5	rs149670991		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr2:202589136G>A	ENST00000264276.6	-	21	3766	c.3394C>T	c.(3394-3396)Cgt>Tgt	p.R1132C	ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1132					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGACCATGACGCATATTATCT	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		18074	0		0	False		,,,				2504	0																0								ENSG00000003393						186	164	171					2																	202589136		1901	4131	6032	ALS2	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3394C>T	2.37:g.202589136G>A	ENSP00000264276:p.Arg1132Cys	Somatic	0	94	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	51	38.55	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.R1132C	ENST00000264276.6	37	c.3394	CCDS42800.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.0	4.792192	0.90453	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.50001	0.76;0.76	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71609	-0.4541	10	0.66056	D	0.02	.	15.0971	0.72244	0.0:0.0:0.8584:0.1416	.	1132;1132	Q6IQ41;Q96Q42	.;ALS2_HUMAN	C	1132;444	ENSP00000264276:R1132C;ENSP00000394823:R444C	ENSP00000264276:R1132C	R	-	1	0	ALS2	202297381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.305000	0.72805	2.805000	0.96524	0.655000	0.94253	CGT	-	pfam_MORN,smart_MORN		0.413	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	protein_coding	OTTHUMT00000335562.3	G	NM_020919	rs149670991		202589136	-1	no_errors	ENST00000264276	ensembl	human	known	74_37	missense	SNP	1.000	A	A	202589136	G	A	202589136	3	1	12	1	0	0	0	0	1	0	0	0	550	1087	38	1	1635	1	ALS2	2	202589136	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	71068754	202589136	40610237	8	889											
CPZ	8532	genome.wustl.edu	37	chr4	8621215	8621215	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaggtgccagctctttGggggaggccacggagcccga	18	11	1	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr4:8621215G>C	ENST00000360986.4	+	11	2004	c.1830G>C	c.(1828-1830)ttG>ttC	p.L610F	CPZ_ENST00000382480.2_Missense_Mutation_p.L473F|CPZ_ENST00000315782.6_Missense_Mutation_p.L599F|CPZ_ENST00000429646.2_Missense_Mutation_p.L218F	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	610					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAGCTCTTTGGGGGAGGCCA	0.657																																																	0								ENSG00000109625						36	39	38					4																	8621215		2203	4300	6503	CPZ	SO:0001583	missense	0			-	HGNC	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1830G>C	4.37:g.8621215G>C	ENSP00000354255:p.Leu610Phe	Somatic	0	43	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	O00520|Q96MX2	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.L610F	ENST00000360986.4	37	c.1830	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439176	0.12104	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.58210	0.68;2.06;0.35;1.94	4.66	0.155	0.14906	.	12.913800	0.00166	N	0.000003	T	0.28764	0.0713	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.024;0.025	B;B	0.18561	0.022;0.01	T	0.13818	-1.0495	10	0.10377	T	0.69	0.0381	3.2528	0.06820	0.126:0.3622:0.3876:0.1242	.	599;610	Q66K79-2;Q66K79	.;CBPZ_HUMAN	F	610;473;599;218	ENSP00000354255:L610F;ENSP00000371920:L473F;ENSP00000315074:L599F;ENSP00000403981:L218F	ENSP00000315074:L599F	L	+	3	2	CPZ	8672115	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.740000	0.01839	0.064000	0.16427	0.456000	0.33151	TTG	-	NULL		0.657	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	protein_coding	OTTHUMT00000207001.4	G	NM_003652	-		8621215	1	no_errors	ENST00000360986	ensembl	human	known	74_37	missense	SNP	0.000	C	C	8621215	G	C	8621215	3	2	12	1	0	0	0	0	1	0	0	0	3841	1339	47	4	1872	4	CPZ	4	8621215	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09		8621215	182533061	9	890											
SLIT2	9353	genome.wustl.edu	37	chr4	20597435	20597435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtgaacggctatacgTgcatatgccccgaaggttac	11	10	0	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr4:20597435T>C	ENST00000504154.1	+	31	3550	c.3298T>C	c.(3298-3300)Tgc>Cgc	p.C1100R	SLIT2_ENST00000273739.5_Missense_Mutation_p.C1113R|SLIT2_ENST00000503837.1_Missense_Mutation_p.C1096R|SLIT2_ENST00000503823.1_Missense_Mutation_p.C1092R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1100	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGCTATACGTGCATATGCCC	0.448																																																	0								ENSG00000145147						126	117	120					4																	20597435		2203	4300	6503	SLIT2	SO:0001583	missense	0			-	HGNC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3298T>C	4.37:g.20597435T>C	ENSP00000422591:p.Cys1100Arg	Somatic	0	70	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	81	31.93	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1100R	ENST00000504154.1	37	c.3298	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517037	0.85495	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.99992	-12.4;-12.4;-12.4;-12.4	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.99995	1.5312	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1092;1100	O94813-3;O94813	.;SLIT2_HUMAN	R	1092;1100;1113;1096;1096	ENSP00000427548:C1092R;ENSP00000422591:C1100R;ENSP00000273739:C1113R;ENSP00000422261:C1096R	ENSP00000273739:C1113R	C	+	1	0	SLIT2	20206533	1.000000	0.71417	0.955000	0.39395	0.829000	0.46940	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	TGC	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.448	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	T		-		20597435	1	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	SNP	1.000	C	C	20597435	T	C	20597435	3	2	12	1	0	0	0	0	1	0	0	0	14748	1696	59	5	3420	5	SLIT2	4	20597435	Missense_Mutation	SNP	T	TCGA-3B-A9HX-01A-11D-A38Z-09	11976220	20597435	170556841	10	891											
ARAP2	116984	genome.wustl.edu	37	chr4	36149219	36149219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatctccctgaacttcttgCatttgaaggcaaaaatgcaa	6	10	2	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr4:36149219C>A	ENST00000303965.4	-	18	3639	c.3150G>T	c.(3148-3150)atG>atT	p.M1050I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1050	PH 4. {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						GAACTTCTTGCATTTGAAGGC	0.403																																																	0								ENSG00000047365						89	88	88					4																	36149219		2203	4300	6503	ARAP2	SO:0001583	missense	0			-	HGNC	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.3150G>T	4.37:g.36149219C>A	ENSP00000302895:p.Met1050Ile	Somatic	0	27	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	46	34.29	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.M1050I	ENST00000303965.4	37	c.3150	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480015	0.26598	.	.	ENSG00000047365	ENST00000303965	T	0.71579	-0.58	5.46	1.54	0.23209	Pleckstrin homology domain (1);	0.647892	0.17321	N	0.178518	T	0.52058	0.1711	L	0.36672	1.1	0.23940	N	0.996407	B	0.21071	0.051	B	0.16722	0.016	T	0.38542	-0.9656	10	0.39692	T	0.17	.	1.2559	0.01991	0.2552:0.4088:0.1242:0.2118	.	1050	Q8WZ64	ARAP2_HUMAN	I	1050	ENSP00000302895:M1050I	ENSP00000302895:M1050I	M	-	3	0	ARAP2	35825614	0.710000	0.27896	0.993000	0.49108	0.946000	0.59487	-0.302000	0.08221	0.272000	0.22027	-0.781000	0.03364	ATG	-	smart_Pleckstrin_homology		0.403	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	C	NM_015230	-		36149219	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	0.931	A	A	36149219	C	A	36149219	3	1	12	1	0	0	0	0	1	0	0	0	839	710	25	3	2028	3	ARAP2	4	36149219	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	15551784	36149219	155005057	11	892											
CCDC111	201973	genome.wustl.edu	37	chr4	185599415	185599415	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagaaatagaaactttcggCtatataaatcatcaaaaatt	4	6	2	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr4:185599415C>G	ENST00000314970.6	+	8	1307	c.874C>G	c.(874-876)Cta>Gta	p.L292V	PRIMPOL_ENST00000515774.1_Missense_Mutation_p.L163V|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.L292V|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.L292V	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	292					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										AAACTTTCGGCTATATAAATC	0.289																																																	0								ENSG00000164306						32	34	33					4																	185599415		2198	4289	6487	PRIMPOL	SO:0001583	missense	0			-	HGNC	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.874C>G	4.37:g.185599415C>G	ENSP00000313816:p.Leu292Val	Somatic	1	107	0.91		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	86	36.30	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP							pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S	p.L292V	ENST00000314970.6	37	c.874	CCDS3837.1	4	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907394	0.52333	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.56611	0.75;0.45;0.75;0.75	5.95	4.24	0.50183	.	0.143204	0.47852	D	0.000205	T	0.66528	0.2798	M	0.77313	2.365	0.22787	N	0.99874	D;D	0.64830	0.994;0.994	D;D	0.71656	0.952;0.974	T	0.59456	-0.7451	10	0.59425	D	0.04	0.1488	4.3578	0.11187	0.1588:0.5461:0.0:0.295	.	292;292	Q96LW4;D6RDM1	CC111_HUMAN;.	V	292;163;292;292	ENSP00000313816:L292V;ENSP00000421913:L163V;ENSP00000420860:L292V;ENSP00000425316:L292V	ENSP00000313816:L292V	L	+	1	2	CCDC111	185836409	0.969000	0.33509	0.050000	0.19076	0.961000	0.63080	1.593000	0.36686	0.867000	0.35654	0.655000	0.94253	CTA	-	pfam_DNA_primase_S		0.289	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRIMPOL	protein_coding	OTTHUMT00000360827.1	C	NM_152683	-		185599415	1	no_errors	ENST00000314970	ensembl	human	known	74_37	missense	SNP	0.302	G	G	185599415	C	G	185599415	3	3	12	1	0	0	0	0	1	0	0	0	2750	796	28	4	896	4	CCDC111	4	185599415	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	149450196	185599415	5554861	12	893											
PCDHB3	56132	genome.wustl.edu	37	chr5	140481682	140481682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacagagactcaggcaccaaCgcccaggtaacctactcgct	9	15	1	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr5:140481682C>G	ENST00000231130.2	+	1	1449	c.1449C>G	c.(1447-1449)aaC>aaG	p.N483K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	483	Cadherin 5. {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)			CAGGCACCAACGCCCAGGTAA	0.632																																																	0								ENSG00000113205						91	94	93					5																	140481682		2203	4298	6501	PCDHB3	SO:0001583	missense	0			-	HGNC	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.1449C>G	5.37:g.140481682C>G	ENSP00000231130:p.Asn483Lys	Somatic	0	356	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	145	22.46	B2R8P2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N483K	ENST00000231130.2	37	c.1449	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466621	0.26335	.	.	ENSG00000113205	ENST00000231130	T	0.59906	0.23	4.24	2.35	0.29111	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78559	0.4302	H	0.94462	3.54	0.37791	D	0.927353	D	0.89917	1.0	D	0.97110	1.0	T	0.80171	-0.1493	9	0.87932	D	0	.	6.4998	0.22162	0.0:0.5867:0.0:0.4133	.	483	Q9Y5E6	PCDB3_HUMAN	K	483	ENSP00000231130:N483K	ENSP00000231130:N483K	N	+	3	2	PCDHB3	140461866	0.013000	0.17824	0.992000	0.48379	0.103000	0.19146	-1.034000	0.03567	0.873000	0.35799	0.650000	0.86243	AAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.632	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	C	NM_018937	-		140481682	1	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140481682	C	G	140481682	3	3	12	1	0	0	0	0	1	0	0	0	11545	535	19	4	1451	4	PCDHB3	5	140481682	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		140481682	40433578	13	894											
MBOAT1	154141	genome.wustl.edu	37	chr6	20124785	20124785	+	Frame_Shift_Del	DEL	A	A	-													tcttcgttagcgtcaaaaacAaaaggagagacaccaaggtg							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr6:20124785delA	ENST00000324607.7	-	8	925	c.761delT	c.(760-762)ttgfs	p.L254fs	MBOAT1_ENST00000541730.1_Frame_Shift_Del_p.L105fs	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	254					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)			CGTCAAAAACAAAAGGAGAGA	0.463																																																	0								ENSG00000172197						165	141	149					6																	20124785		2203	4300	6503	MBOAT1	SO:0001589	frameshift_variant	0				HGNC	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.761delT	6.37:g.20124785delA	ENSP00000324944:p.Leu254fs	Somatic	0	41	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Frame_Shift_Del	DEL							pfam_MBOAT_fam	p.L254fs	ENST00000324607.7	37	c.761	CCDS34346.1	6																																																																																			-	pfam_MBOAT_fam		0.463	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	protein_coding	OTTHUMT00000039980.1	A				20124785	-1	no_errors	ENST00000324607	ensembl	human	known	74_37	frame_shift_del	DEL	0.906	-	-	20124785	A	-	20124785	7	5	12	1	0	1	0	1	0	0	0	0	9358	131	5	0	750	0	MBOAT1	6	20124785	Frame_Shift_Del	DEL	A	TCGA-3B-A9HX-01A-11D-A38Z-09		20124785	150990282	14	895											
MYCT1	80177	genome.wustl.edu	37	chr6	153019226	153019226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggagtccatggccagaaaaCttttggggtaaggtattttc	13	6	0	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr6:153019226C>G	ENST00000367245.5	+	1	197	c.189C>G	c.(187-189)aaC>aaG	p.N63K	MYCT1_ENST00000529453.1_Missense_Mutation_p.N63K	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	63						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GGCCAGAAAACTTTTGGGGTA	0.313																																																	0								ENSG00000120279						37	38	38					6																	153019226		2203	4295	6498	MYCT1	SO:0001583	missense	0			-	HGNC	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.189C>G	6.37:g.153019226C>G	ENSP00000356214:p.Asn63Lys	Somatic	0	56	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	43.64	Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP							NULL	p.N63K	ENST00000367245.5	37	c.189	CCDS5239.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.584553|1.584553	0.28268|0.28268	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245;ENST00000529453|ENST00000532295	T|.	0.28895|.	1.59|.	5.59|5.59	3.49|3.49	0.39957|0.39957	.|.	0.271361|.	0.37393|.	N|.	0.002109|.	T|T	0.19765|0.19765	0.0475|0.0475	L|L	0.40543|0.40543	1.245|1.245	0.27947|0.27947	N|N	0.937313|0.937313	B;B|.	0.18310|.	0.027;0.027|.	B;B|.	0.19391|.	0.025;0.025|.	T|T	0.11991|0.11991	-1.0565|-1.0565	10|5	0.30078|.	T|.	0.28|.	-16.6028|-16.6028	7.3267|7.3267	0.26560|0.26560	0.0:0.6293:0.1439:0.2268|0.0:0.6293:0.1439:0.2268	.|.	15;63|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	K|S	63|44	ENSP00000356214:N63K|.	ENSP00000356214:N63K|.	N|T	+|+	3|2	2|0	MYCT1|MYCT1	153060919|153060919	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.212000|0.212000	0.17497|0.17497	1.369000|1.369000	0.46134|0.46134	0.650000|0.650000	0.86243|0.86243	AAC|ACT	-	NULL		0.313	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	protein_coding	OTTHUMT00000042750.2	C	NM_025107	-		153019226	1	no_errors	ENST00000367245	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153019226	C	G	153019226	3	3	12	1	0	0	0	0	1	0	0	0	10024	564	20	4	191	4	MYCT1	6	153019226	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	132894441	153019226	18095841	15	896											
ZNF804B	219578	genome.wustl.edu	37	chr7	88965546	88965546	+	Missense_Mutation	SNP	G	G	C													ttccgtctaataaatatactGgtgtgactgattcaacagag							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr7:88965546G>C	ENST00000333190.4	+	4	3859	c.3250G>C	c.(3250-3252)Ggt>Cgt	p.G1084R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1084							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAATATACTGGTGTGACTGA	0.348										HNSCC(36;0.09)																																							0								ENSG00000182348						54	53	53					7																	88965546		2202	4299	6501	ZNF804B	SO:0001583	missense	0			-	HGNC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3250G>C	7.37:g.88965546G>C	ENSP00000329638:p.Gly1084Arg	Somatic	0	9	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.G1084R	ENST00000333190.4	37	c.3250	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773395	0.31411	.	.	ENSG00000182348	ENST00000333190	T	0.05717	3.4	5.04	2.21	0.28008	.	0.471757	0.21800	N	0.068930	T	0.06554	0.0168	L	0.32530	0.975	0.30509	N	0.769631	D	0.54397	0.966	P	0.48030	0.564	T	0.15636	-1.0430	10	0.54805	T	0.06	-0.8535	5.1019	0.14764	0.228:0.0:0.6258:0.1461	.	1084	A4D1E1	Z804B_HUMAN	R	1084	ENSP00000329638:G1084R	ENSP00000329638:G1084R	G	+	1	0	ZNF804B	88803482	0.955000	0.32602	0.306000	0.25113	0.807000	0.45602	0.711000	0.25764	0.384000	0.24942	0.655000	0.94253	GGT	-	NULL		0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	protein_coding	OTTHUMT00000253683.2	G	NM_181646	-		88965546	1	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	SNP	0.912	C	C	88965546	G	C	88965546	3	2	12	1	0	0	0	0	1	0	0	0	18178	1348	47	4	3264	4	ZNF804B	7	88965546	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09		88965546	70173117	16	897	6	2									
ZNF804B	219578	genome.wustl.edu	37	chr7	88965547	88965547	+	Missense_Mutation	SNP	G	G	T													tccgtctaataaatatactgGtgtgactgattcaacagaga					rs139960501	byFrequency	TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr7:88965547G>T	ENST00000333190.4	+	4	3860	c.3251G>T	c.(3250-3252)gGt>gTt	p.G1084V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1084							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATATACTGGTGTGACTGAT	0.353										HNSCC(36;0.09)																																							0								ENSG00000182348						54	53	54					7																	88965547		2202	4299	6501	ZNF804B	SO:0001583	missense	0			-	HGNC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3251G>T	7.37:g.88965547G>T	ENSP00000329638:p.Gly1084Val	Somatic	0	9	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.G1084V	ENST00000333190.4	37	c.3251	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384517	0.11524	.	.	ENSG00000182348	ENST00000333190	T	0.05081	3.5	5.04	3.19	0.36642	.	0.471757	0.21800	N	0.068930	T	0.03477	0.0100	N	0.20986	0.625	0.50313	D	0.999868	B	0.29988	0.264	B	0.20577	0.03	T	0.50734	-0.8793	10	0.19147	T	0.46	-0.8535	5.3016	0.15781	0.0789:0.1242:0.6152:0.1817	.	1084	A4D1E1	Z804B_HUMAN	V	1084	ENSP00000329638:G1084V	ENSP00000329638:G1084V	G	+	2	0	ZNF804B	88803483	0.958000	0.32768	0.256000	0.24389	0.780000	0.44128	0.233000	0.17911	0.803000	0.34113	0.655000	0.94253	GGT	-	NULL		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	protein_coding	OTTHUMT00000253683.2	G	NM_181646	-		88965547	1	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	SNP	0.865	T	T	88965547	G	T	88965547	3	4	12	1	0	0	0	0	1	0	0	0	18178	1261	44	3	3265	3	ZNF804B	7	88965547	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	1	88965547	70173116	17	898	6	2									
ACHE	43	genome.wustl.edu	37	chr7	100491025	100491025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccagctgcgtggccctgcGacgggcctctcccatgccca	13	18	1	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr7:100491025G>A	ENST00000412389.1	-	1	984	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.R277C|ACHE_ENST00000419336.2_Missense_Mutation_p.R277C|ACHE_ENST00000411582.1_Missense_Mutation_p.R277C|ACHE_ENST00000428317.1_Missense_Mutation_p.R277C|ACHE_ENST00000302913.4_Missense_Mutation_p.R277C			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	277					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GTGGCCCTGCGACGGGCCTCT	0.706																																																	0								ENSG00000087085						28	29	29					7																	100491025		2201	4299	6500	ACHE	SO:0001583	missense	0			-	HGNC		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.829C>T	7.37:g.100491025G>A	ENSP00000394976:p.Arg277Cys	Somatic	0	51	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R277C	ENST00000412389.1	37	c.829	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039189	0.55003	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.95	4.03	0.46877	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.985;0.982;0.972;0.985	D	0.87729	0.2578	10	0.62326	D	0.03	.	12.4637	0.55747	0.0:0.0:0.8325:0.1675	.	277;277;277;277	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	C	277	ENSP00000403474:R277C;ENSP00000241069:R277C;ENSP00000414858:R277C;ENSP00000303211:R277C;ENSP00000394976:R277C;ENSP00000397143:R277C;ENSP00000399725:R277C;ENSP00000404865:R277C	ENSP00000241069:R277C	R	-	1	0	ACHE	100328961	0.061000	0.20836	0.997000	0.53966	0.826000	0.46750	0.795000	0.26972	2.281000	0.76405	0.484000	0.47621	CGC	-	pfam_CarbesteraseB		0.706	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	protein_coding	OTTHUMT00000347201.1	G	NM_015831	-		100491025	-1	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	SNP	0.986	A	A	100491025	G	A	100491025	3	1	12	1	0	0	0	0	1	0	0	0	141	1058	37	1	1166	1	ACHE	7	100491025	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	11525478	100491025	58647638	18	899											
MOGAT3	346606	genome.wustl.edu	37	chr7	100841961	100841961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaagaggccagccagcaCggctaaccagggccggagcc	15	13	0	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr7:100841961C>T	ENST00000223114.4	-	4	605	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	MOGAT3_ENST00000440203.2_Missense_Mutation_p.V147M|MOGAT3_ENST00000379423.3_Missense_Mutation_p.V147M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	147					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGCCAGCACGGCTAACCAG	0.587																																																	0								ENSG00000106384						50	53	52					7																	100841961		2203	4300	6503	MOGAT3	SO:0001583	missense	0			-	HGNC	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.439G>A	7.37:g.100841961C>T	ENSP00000223114:p.Val147Met	Somatic	0	162	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	63	19.23	Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP							pfam_DAGAT	p.V147M	ENST00000223114.4	37	c.439	CCDS5714.1	7	.	.	.	.	.	.	.	.	.	.	.	12.49	1.953512	0.34471	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	D;T;T	0.93426	-3.22;2.38;2.38	5.2	-6.09	0.02145	.	1.437400	0.04089	N	0.310942	D	0.84009	0.5378	N	0.16833	0.445	0.09310	N	1	P;B	0.34864	0.473;0.282	B;B	0.22386	0.025;0.039	T	0.76979	-0.2758	10	0.44086	T	0.13	0.8381	10.3006	0.43650	0.0:0.1868:0.1114:0.7018	.	147;147	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	M	147	ENSP00000223114:V147M;ENSP00000403756:V147M;ENSP00000368734:V147M	ENSP00000223114:V147M	V	-	1	0	MOGAT3	100628681	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.238000	0.08977	-1.924000	0.01064	0.561000	0.74099	GTG	-	pfam_DAGAT		0.587	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT3	protein_coding	OTTHUMT00000059649.3	C	NM_178176	-		100841961	-1	no_errors	ENST00000440203	ensembl	human	known	74_37	missense	SNP	0.000	T	T	100841961	C	T	100841961	3	4	12	1	0	0	0	0	1	0	0	0	9698	536	19	1	602	1	MOGAT3	7	100841961	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	350936	100841961	58296702	19	900											
CNOT4	4850	genome.wustl.edu	37	chr7	135047671	135047671	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgaactctgtagtaaaTctgtgggggttttgctgggg	16	4	2	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr7:135047671T>A	ENST00000451834.1	-	12	2382	c.2099A>T	c.(2098-2100)gAt>gTt	p.D700V	CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000541284.1_Missense_Mutation_p.D703V|CNOT4_ENST00000423368.2_Missense_Mutation_p.D632V|CNOT4_ENST00000361528.4_Missense_Mutation_p.D629V			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTGTAGTAAATCTGTGGGGGT	0.527																																					Ovarian(51;766 1130 5502 35047 50875)												0								ENSG00000080802						204	213	210					7																	135047671		1855	4095	5950	CNOT4	SO:0001583	missense	0			-	HGNC	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2099A>T	7.37:g.135047671T>A	ENSP00000388491:p.Asp700Val	Somatic	0	50	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.28	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.D703V	ENST00000451834.1	37	c.2108	CCDS55167.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.87|18.87	3.715352|3.715352	0.68844|0.68844	.|.	.|.	ENSG00000080802|ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000361528|ENST00000262563	T;T;T;T|.	0.54279|.	0.63;0.62;0.58;0.58|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.248154	.|0.47852	.|N	.|0.000208	T|T	0.54255|0.54255	0.1847|0.1847	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.55385|.	0.952;0.971;0.971;0.971|.	P;P;P;P|.	0.55455|.	0.521;0.776;0.624;0.624|.	T|T	0.49835|0.49835	-0.8897|-0.8897	9|7	0.87932|0.02654	D|T	0|1	-2.7989|-2.7989	16.3594|16.3594	0.83251|0.83251	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	700;703;632;629|.	E7ET38;F8VQP3;O95628-4;O95628-8|.	.;.;.;.|.	V|F	703;700;632;629|690	ENSP00000445508:D703V;ENSP00000388491:D700V;ENSP00000406777:D632V;ENSP00000354673:D629V|.	ENSP00000354673:D629V|ENSP00000262563:I690F	D|I	-|-	2|1	0|0	CNOT4|CNOT4	134698211|134698211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.856000|7.856000	0.86956|0.86956	2.266000|2.266000	0.75297|0.75297	0.455000|0.455000	0.32223|0.32223	GAT|ATT	-	NULL		0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CNOT4	protein_coding	OTTHUMT00000340670.1	T	NM_013316	-		135047671	-1	no_errors	ENST00000541284	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135047671	T	A	135047671	3	1	12	1	0	0	0	0	1	0	0	0	3623	1435	50	5	37	5	CNOT4	7	135047671	Missense_Mutation	SNP	T	TCGA-3B-A9HX-01A-11D-A38Z-09	34205710	135047671	24090992	20	901											
TMEM139	135932	genome.wustl.edu	37	chr7	142983670	142983670	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caacctagccatccagagggGtccaggagagccaaactgga	12	12	0	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr7:142983670G>C	ENST00000359333.3	+	3	912	c.399G>C	c.(397-399)ggG>ggC	p.G133G	TMEM139_ENST00000409244.1_Silent_p.G133G|TMEM139_ENST00000409102.1_Silent_p.G133G|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Silent_p.G133G|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000392925.2_5'Flank|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000410004.1_Silent_p.G133G	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	133						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ATCCAGAGGGGTCCAGGAGAG	0.602																																																	0								ENSG00000178826						74	77	76					7																	142983670		2203	4300	6503	TMEM139	SO:0001819	synonymous_variant	0			-	HGNC	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.399G>C	7.37:g.142983670G>C		Somatic	0	115	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	82	15.46	B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Silent	SNP							NULL	p.G133	ENST00000359333.3	37	c.399	CCDS5878.1	7																																																																																			-	NULL		0.602	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM139	protein_coding	OTTHUMT00000327145.1	G	NM_153345	-		142983670	1	no_errors	ENST00000359333	ensembl	human	known	74_37	silent	SNP	0.000	C	C	142983670	G	C	142983670	2	2	12	1	0	0	0	0	0	0	0	1	16061	1248	44	4		4	TMEM139	7	142983670	Silent	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	7935999	142983670	16154993	21	902											
SULF1	23213	genome.wustl.edu	37	chr8	70476322	70476322	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacggatacagcaggaaCgaaaaaacatccgacccaac	10	11	0	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr8:70476322C>T	ENST00000260128.4	+	5	829	c.112C>T	c.(112-114)Cga>Tga	p.R38*	SULF1_ENST00000402687.4_Nonsense_Mutation_p.R38*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.R38*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.R38*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	38					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)			ACAGCAGGAACGAAAAAACAT	0.493																																																	0								ENSG00000137573						179	164	169					8																	70476322		2203	4300	6503	SULF1	SO:0001587	stop_gained	0			-	HGNC	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.112C>T	8.37:g.70476322C>T	ENSP00000260128:p.Arg38*	Somatic	0	71	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	63	39.42	Q86YV8|Q8NCA2|Q9UPS5	Nonsense_Mutation	SNP							pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R38*	ENST00000260128.4	37	c.112	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.729123	0.97796	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000534179;ENST00000528783;ENST00000525999	.	.	.	6.06	3.13	0.36017	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8513	0.70297	0.4965:0.5035:0.0:0.0	.	.	.	.	X	38	.	ENSP00000260128:R38X	R	+	1	2	SULF1	70638876	0.997000	0.39634	0.997000	0.53966	0.996000	0.88848	0.780000	0.26760	0.843000	0.35070	0.650000	0.86243	CGA	-	pirsf_Extracellular_sulfatase		0.493	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	C	NM_015170	-		70476322	1	no_errors	ENST00000260128	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	70476322	C	T	70476322	4	4	12	1	0	0	0	0	0	1	0	0	15377	528	19	1	114	1	SULF1	8	70476322	Nonsense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		70476322	75887700	22	903											
ZNF658	26149	genome.wustl.edu	37	chr9	40772812	40772812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctccccTgtgtgaattctttgatgcac	8	10	3	2	rs551555151		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr9:40772812T>C	ENST00000602553.1	-	5	2757	c.2463A>G	c.(2461-2463)acA>acG	p.T821T	ZNF658_ENST00000377626.3_Silent_p.T821T|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	821					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTTCTCCCCTGTGTGAATTC	0.418													T|||	1	0.000199681	0	0	5008	,	,		19907	0.001		0	False		,,,				2504	0																0								ENSG00000196409						67	66	67					9																	40772812		2201	4295	6496	ZNF658	SO:0001819	synonymous_variant	0			-	HGNC	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2463A>G	9.37:g.40772812T>C		Somatic	1	109	0.91		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	144	41.94	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T821	ENST00000602553.1	37	c.2463	CCDS35023.1	9																																																																																			-	pfscan_Znf_C2H2		0.418	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	protein_coding	OTTHUMT00000467800.1	T	NM_033160	-		40772812	-1	no_errors	ENST00000377626	ensembl	human	known	74_37	silent	SNP	0.999	C	C	40772812	T	C	40772812	2	2	12	1	0	0	0	0	0	0	0	1	18076	1567	55	5		5	ZNF658	9	40772812	Silent	SNP	T	TCGA-3B-A9HX-01A-11D-A38Z-09		40772812	100440619	23	904											
OR13C4	138804	genome.wustl.edu	37	chr9	107288553	107288553	+	Missense_Mutation	SNP	C	C	G													cttactggttaatagctttcCtgctcagcaaatattttata							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr9:107288553C>G	ENST00000277216.3	-	1	937	c.938G>C	c.(937-939)aGg>aCg	p.R313T		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AATAGCTTTCCTGCTCAGCAA	0.353																																																	0								ENSG00000148136						66	73	71					9																	107288553		2203	4300	6503	OR13C4	SO:0001583	missense	0			-	HGNC		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.938G>C	9.37:g.107288553C>G	ENSP00000277216:p.Arg313Thr	Somatic	0	49	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	70	23.91	Q6IF51|Q96R41	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R313T	ENST00000277216.3	37	c.938	CCDS35088.1	9	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829203	0.16749	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.39592	1.07	4.02	-2.4	0.06583	.	2.271960	0.02875	U	0.132173	T	0.42063	0.1186	M	0.61703	1.905	0.09310	N	1	B	0.17852	0.024	B	0.16722	0.016	T	0.47341	-0.9125	10	0.72032	D	0.01	.	8.6898	0.34260	0.0:0.3648:0.0:0.6352	.	313	Q8NGS5	O13C4_HUMAN	T	313;342	ENSP00000277216:R313T	ENSP00000277216:R313T	R	-	2	0	OR13C4	106328374	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.186000	0.01251	-0.393000	0.07739	-0.214000	0.12660	AGG	-	NULL		0.353	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	protein_coding	OTTHUMT00000053478.1	C		-		107288553	-1	no_errors	ENST00000277216	ensembl	human	known	74_37	missense	SNP	0.000	G	G	107288553	C	G	107288553	3	3	12	1	0	0	0	0	1	0	0	0	10938	681	24	4	20	4	OR13C4	9	107288553	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	66515741	107288553	33924878	24	905	7	2									
OR13C4	138804	genome.wustl.edu	37	chr9	107288554	107288554	+	Silent	SNP	T	T	G													ttactggttaatagctttccTgctcagcaaatattttatag							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr9:107288554T>G	ENST00000277216.3	-	1	936	c.937A>C	c.(937-939)Agg>Cgg	p.R313R		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATAGCTTTCCTGCTCAGCAAA	0.353																																																	0								ENSG00000148136						65	73	70					9																	107288554		2203	4300	6503	OR13C4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.937A>C	9.37:g.107288554T>G		Somatic	0	47	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	70	23.91	Q6IF51|Q96R41	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R313	ENST00000277216.3	37	c.937	CCDS35088.1	9																																																																																			-	NULL		0.353	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	protein_coding	OTTHUMT00000053478.1	T		-		107288554	-1	no_errors	ENST00000277216	ensembl	human	known	74_37	silent	SNP	0.000	G	G	107288554	T	G	107288554	2	3	12	1	0	0	0	0	0	0	0	1	10938	1579	55	5		5	OR13C4	9	107288554	Silent	SNP	T	TCGA-3B-A9HX-01A-11D-A38Z-09	1	107288554	33924877	25	906	7	2									
CEL	1056	genome.wustl.edu	37	chr9	135946410	135946410	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactcggctgtgcccacacaCtgggaaccctacactacgga	10	15	0	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr9:135946410C>G	ENST00000372080.4	+	11	1546	c.1530C>G	c.(1528-1530)caC>caG	p.H510Q	CEL_ENST00000351304.7_Missense_Mutation_p.H441Q	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	507					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGCCCACACACTGGGAACCCT	0.617																																																	0								ENSG00000170835						42	52	49					9																	135946410		2058	4199	6257	CEL	SO:0001583	missense	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1530C>G	9.37:g.135946410C>G	ENSP00000361151:p.His510Gln	Somatic	0	191	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	100	22.48	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.H510Q	ENST00000372080.4	37	c.1530	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	C	7.447	0.641861	0.14451	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.66099	-0.19;0.36	5.04	-3.8	0.04307	Carboxylesterase, type B (1);	1.363530	0.04669	N	0.410338	T	0.34019	0.0883	N	0.05554	-0.025	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10660	-1.0620	10	0.25751	T	0.34	.	2.2627	0.04071	0.3019:0.2649:0.3098:0.1234	.	507	P19835	CEL_HUMAN	Q	510;441;509	ENSP00000361151:H510Q;ENSP00000342217:H441Q	ENSP00000304021:H509Q	H	+	3	2	CEL	134936231	0.000000	0.05858	0.078000	0.20375	0.322000	0.28314	-0.718000	0.04980	-0.104000	0.12154	-0.712000	0.03635	CAC	-	pfam_CarbesteraseB		0.617	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	C		-		135946410	1	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	SNP	0.007	G	G	135946410	C	G	135946410	3	3	12	1	0	0	0	0	1	0	0	0	3211	564	20	4	1572	4	CEL	9	135946410	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	28657856	135946410	5267021	26	907											
SVIL	6840	genome.wustl.edu	37	chr10	29821886	29821886	+	Frame_Shift_Del	DEL	A	A	-													aagtcctcatttctagagggAtcttctgggcttctcactag							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr10:29821886delA	ENST00000355867.4	-	8	2162	c.1410delT	c.(1408-1410)gatfs	p.D470fs	SVIL_ENST00000375398.2_Frame_Shift_Del_p.D470fs|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	470					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTAGAGGGATCTTCTGGGC	0.498																																																	0								ENSG00000197321						104	96	99					10																	29821886		2203	4300	6503	SVIL	SO:0001589	frameshift_variant	0				HGNC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1410delT	10.37:g.29821886delA	ENSP00000348128:p.Asp470fs	Somatic	0	32	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S472fs	ENST00000355867.4	37	c.1410	CCDS7164.1	10																																																																																			-	NULL		0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	protein_coding	OTTHUMT00000047395.1	A				29821886	-1	no_errors	ENST00000355867	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	29821886	A	-	29821886	7	5	12	1	0	1	0	1	0	0	0	0	15428	330	12	0	5358	0	SVIL	10	29821886	Frame_Shift_Del	DEL	A	TCGA-3B-A9HX-01A-11D-A38Z-09		29821886	105712861	27	908											
PRKG1	5592	genome.wustl.edu	37	chr10	52751154	52751154	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaaatgagcgagctagagGaagactttgccaagattctc	10	7	1	4			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr10:52751154G>T	ENST00000401604.2	+	1	210	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	PRKG1_ENST00000373985.1_5'UTR			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	6	Required for dimerization.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGAGCTAGAGGAAGACTTTGC	0.597																																																	0								ENSG00000185532						21	24	23					10																	52751154		1846	4078	5924	PRKG1	SO:0001587	stop_gained	0			-	HGNC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.16G>T	10.37:g.52751154G>T	ENSP00000384200:p.Glu6*	Somatic	0	316	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	128	22.89	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Nonsense_Mutation	SNP							pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.E6*	ENST00000401604.2	37	c.16	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	G	40	7.924220	0.98563	.	.	ENSG00000185532	ENST00000401604	.	.	.	4.76	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	8.0573	0.30612	0.0914:0.1612:0.7474:0.0	.	.	.	.	X	6	.	ENSP00000384200:E6X	E	+	1	0	PRKG1	52421160	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.078000	0.94023	0.492000	0.27815	0.462000	0.41574	GAA	-	pirsf_cGMP-dependent_protein_kinase		0.597	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	protein_coding		G		-		52751154	1	no_errors	ENST00000401604	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	52751154	G	T	52751154	4	4	12	1	0	0	0	0	0	1	0	0	12527	1175	41	3	18	3	PRKG1	10	52751154	Nonsense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	22929268	52751154	82783593	28	909											
MPEG1	219972	genome.wustl.edu	37	chr11	58979797	58979797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtctggttgttctctagaCggtcagagatgtcaaggagt	13	7	4	2	rs370491206		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr11:58979797C>T	ENST00000361050.3	-	1	627	c.542G>A	c.(541-543)cGt>cAt	p.R181H	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	181	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTTCTCTAGACGGTCAGAGAT	0.522																																																	0								ENSG00000197629	C	HIS/ARG	3,3923		0,3,1960	131	120	124		542	-1.4	0.1	11		124	0,8280		0,0,4140	no	missense	MPEG1	NM_001039396.1	29	0,3,6100	TT,TC,CC		0.0,0.0764,0.0246	probably-damaging	181/717	58979797	3,12203	1963	4140	6103	MPEG1	SO:0001583	missense	0			-	HGNC	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.542G>A	11.37:g.58979797C>T	ENSP00000354335:p.Arg181His	Somatic	0	34	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q2M1T6|Q8TEF8	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.R181H	ENST00000361050.3	37	c.542	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.594018	0.00857	7.64E-4	0.0	ENSG00000197629	ENST00000361050	D	0.84070	-1.8	5.2	-1.44	0.08856	Membrane attack complex component/perforin (MACPF) domain (3);	0.485207	0.22233	N	0.062790	T	0.68174	0.2972	L	0.45137	1.4	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.50617	-0.8807	10	0.11182	T	0.66	-0.8451	5.387	0.16224	0.1354:0.3776:0.0:0.487	.	181	Q2M385	MPEG1_HUMAN	H	181	ENSP00000354335:R181H	ENSP00000354335:R181H	R	-	2	0	MPEG1	58736373	0.941000	0.31946	0.077000	0.20336	0.245000	0.25701	0.774000	0.26675	-0.600000	0.05790	-0.794000	0.03295	CGT	-	pfam_MACPF,smart_MACPF		0.522	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	protein_coding	OTTHUMT00000370027.1	C	NM_001039396	-		58979797	-1	no_errors	ENST00000361050	ensembl	human	known	74_37	missense	SNP	0.068	T	T	58979797	C	T	58979797	3	4	12	1	0	0	0	0	1	0	0	0	9725	536	19	1	1612	1	MPEG1	11	58979797	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		58979797	76026719	29	910											
SLC22A10	387775	genome.wustl.edu	37	chr11	63078478	63078479	+	Splice_Site	INS	-	-	A													gttttgttttgtttttccagINSaaaaaaaaatctcaaggaaa					rs562147200	byFrequency	TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr11:63078478_63078479insA	ENST00000332793.6	+	10	1600_1601		c.e10-1		SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Splice_Site|SLC22A10_ENST00000526800.1_Splice_Site|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	tgttttTCCAGAAAAAAAAATC	0.302																																																	0								ENSG00000184999																																			SLC22A10	SO:0001630	splice_region_variant	0				HGNC	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1599-1->A	11.37:g.63078487_63078487dupA		Somatic	0	25	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q68CJ0	Frame_Shift_Ins	INS							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N537fs	ENST00000332793.6	37	c.1600_1599	CCDS41661.1	11																																																																																			-	NULL		0.302	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	protein_coding	OTTHUMT00000382622.3	-	NM_001039752		Intron	63078479	1	no_errors	ENST00000332793	ensembl	human	known	74_37	frame_shift_ins	INS	0.014:0.007	A	A	63078479	-	A	63078478	8	5	12	1	0	1	1	0	0	0	1	0	14449	956	33	0	1636	0	SLC22A10	11	63078478	Splice_Site	INS	-	TCGA-3B-A9HX-01A-11D-A38Z-09	4098681	63078478	71928038	30	911											
PRKRIR	5612	genome.wustl.edu	37	chr11	76062812	76062812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctcggccagctatatagTtattccatctaatatttgtg	7	8	1	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr11:76062812T>C	ENST00000260045.3	-	5	1487	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	461					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGCTATATAGTTATTCCATCT	0.343																																																	0								ENSG00000137492						40	43	42					11																	76062812		2193	4287	6480	PRKRIR	SO:0001583	missense	0			-	HGNC	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1382A>G	11.37:g.76062812T>C	ENSP00000260045:p.Asn461Ser	Somatic	0	44	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	26	56.67	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP							pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.N461S	ENST00000260045.3	37	c.1382	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	T	5.789	0.329888	0.10956	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.99	3.85	0.44370	Ribonuclease H-like (1);	0.358236	0.36409	N	0.002602	T	0.26412	0.0645	L	0.28274	0.84	0.32648	N	0.519784	B	0.06786	0.001	B	0.04013	0.001	T	0.21759	-1.0236	9	0.08837	T	0.75	.	5.0764	0.14634	0.0:0.1489:0.1615:0.6896	.	461	O43422	P52K_HUMAN	S	286;461	.	ENSP00000260045:N461S	N	-	2	0	PRKRIR	75740460	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.921000	0.28718	2.043000	0.60533	0.524000	0.50904	AAC	-	superfamily_RNaseH-like_dom		0.343	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	protein_coding	OTTHUMT00000383188.1	T	NM_004705	-		76062812	-1	no_errors	ENST00000260045	ensembl	human	known	74_37	missense	SNP	0.933	C	C	76062812	T	C	76062812	3	2	12	1	0	0	0	0	1	0	0	0	12531	1725	60	5	907	5	PRKRIR	11	76062812	Missense_Mutation	SNP	T	TCGA-3B-A9HX-01A-11D-A38Z-09	12984334	76062812	58943704	31	912											
C15orf2	23742	genome.wustl.edu	37	chr15	24921704	24921704	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcccaggcgtctccagcGagctcctgcttggaaggccc	13	15	1	0	rs146878373		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr15:24921704G>A	ENST00000329468.2	+	1	1164	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	230					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGTCTCCAGCGAGCTCCTGCT	0.612																																																	0								ENSG00000185823	G		0,4406		0,0,2203	30	33	32		690	1.7	0	15	dbSNP_134	32	1,8599		0,1,4299	no	coding-synonymous	C15orf2	NM_018958.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		230/1157	24921704	1,13005	2203	4300	6503	NPAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.690G>A	15.37:g.24921704G>A		Somatic	0	95	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84		Silent	SNP							NULL	p.A230	ENST00000329468.2	37	c.690	CCDS10015.1	15																																																																																			-	NULL		0.612	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	G	NM_018958	rs146878373		24921704	1	no_errors	ENST00000329468	ensembl	human	known	74_37	silent	SNP	0.001	A	A	24921704	G	A	24921704	2	1	12	1	0	0	0	0	0	0	0	1	1786	1045	37	1		1	C15orf2	15	24921704	Silent	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09		24921704	77609688	32	913											
RSL24D1	51187	genome.wustl.edu	37	chr15	55483213	55483213	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtatttgataggttcAtttctacgtttttcaaattc	7	7	3	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr15:55483213A>G	ENST00000260443.4	-	3	404	c.228T>C	c.(226-228)aaT>aaC	p.N76N	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	76					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						TGATAGGTTCATTTCTACGTT	0.313																																																	0								ENSG00000137876						80	77	78					15																	55483213		2192	4287	6479	RSL24D1	SO:0001819	synonymous_variant	0			-	HGNC	AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"chromosome 15 open reading frame 15"	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.228T>C	15.37:g.55483213A>G		Somatic	0	52	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Silent	SNP							pfam_Ribosomal_L24e_rel,smart_TRASH_dom	p.N76	ENST00000260443.4	37	c.228	CCDS10152.1	15																																																																																			-	NULL		0.313	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSL24D1	protein_coding	OTTHUMT00000254916.1	A	NM_016304	-		55483213	-1	no_errors	ENST00000260443	ensembl	human	known	74_37	silent	SNP	1.000	G	G	55483213	A	G	55483213	2	3	12	1	0	0	0	0	0	0	0	1	13709	214	8	5		5	RSL24D1	15	55483213	Silent	SNP	A	TCGA-3B-A9HX-01A-11D-A38Z-09	30561509	55483213	47048179	33	914											
MESDC2	23184	genome.wustl.edu	37	chr15	81281996	81281996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcttccggggaggtGgggtagactcgtcgggcgtc	16	10	3	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr15:81281996G>A	ENST00000261758.4	-	1	223	c.137C>T	c.(136-138)cCa>cTa	p.P46L	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	46	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CCGGGGAGGTGGGGTAGACTC	0.642																																																	0								ENSG00000117899						62	59	60					15																	81281996		2203	4300	6503	MESDC2	SO:0001583	missense	0			-	HGNC	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.137C>T	15.37:g.81281996G>A	ENSP00000261758:p.Pro46Leu	Somatic	0	160	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	58	32.56	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP							pfam_Mesoderm_development_cand-2	p.P46L	ENST00000261758.4	37	c.137	CCDS32308.1	15	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503156	0.85176	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.36	2.24	0.28232	.	0.559222	0.18006	N	0.154754	T	0.25717	0.0626	L	0.27053	0.805	0.09310	N	1	B	0.24317	0.101	B	0.18561	0.022	T	0.12578	-1.0542	9	0.41790	T	0.15	-15.1623	6.5993	0.22691	0.0:0.2012:0.5912:0.2076	.	46	Q14696	MESD_HUMAN	L	46	.	ENSP00000261758:P46L	P	-	2	0	MESDC2	79069051	0.000000	0.05858	0.004000	0.12327	0.703000	0.40648	0.012000	0.13287	1.130000	0.42092	0.591000	0.81541	CCA	-	NULL		0.642	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC2	protein_coding	OTTHUMT00000417673.2	G	NM_015154	-		81281996	-1	no_errors	ENST00000261758	ensembl	human	known	74_37	missense	SNP	0.002	A	A	81281996	G	A	81281996	3	1	12	1	0	0	0	0	1	0	0	0	9483	1348	47	2	579	2	MESDC2	15	81281996	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	25798783	81281996	21249396	34	915											
SLC12A3	6559	genome.wustl.edu	37	chr16	56921864	56921864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgggagaatgaagcccAacattctggtggttgggttc	14	8	2	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr16:56921864A>G	ENST00000563236.1	+	18	2231	c.2206A>G	c.(2206-2208)Aac>Gac	p.N736D	SLC12A3_ENST00000566786.1_Missense_Mutation_p.N735D|SLC12A3_ENST00000262502.5_Missense_Mutation_p.N735D|SLC12A3_ENST00000438926.2_Missense_Mutation_p.N736D			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	736					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)	AATGAAGCCCAACATTCTGGT	0.607																																																	0								ENSG00000070915						61	58	59					16																	56921864		2198	4300	6498	SLC12A3	SO:0001583	missense	0			-	HGNC		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.2206A>G	16.37:g.56921864A>G	ENSP00000456149:p.Asn736Asp	Somatic	0	139	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	85	13.27	A8MSJ2|C9JNN9	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N736D	ENST00000563236.1	37	c.2206	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563382	0.86335	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.67	4.67	0.58626	.	0.144445	0.64402	D	0.000013	D	0.85234	0.5650	H	0.94771	3.58	0.80722	D	1	D;P;D	0.56521	0.976;0.947;0.968	D;P;P	0.64410	0.925;0.721;0.856	D	0.89529	0.3784	9	0.87932	D	0	.	14.1	0.65049	1.0:0.0:0.0:0.0	.	735;736;736	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	D	735;736	.	ENSP00000262502:N736D	N	+	1	0	SLC12A3	55479365	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.316000	0.79007	1.878000	0.54408	0.460000	0.39030	AAC	-	tigrfam_Na/K/Cl_cotransptS		0.607	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	A		-		56921864	1	no_errors	ENST00000438926	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56921864	A	G	56921864	3	3	12	1	0	0	0	0	1	0	0	0	14392	130	5	5	2276	5	SLC12A3	16	56921864	Missense_Mutation	SNP	A	TCGA-3B-A9HX-01A-11D-A38Z-09		56921864	33432889	35	916											
VAC14	55697	genome.wustl.edu	37	chr16	70820149	70820149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggagcaggcggccaggCcgatgaggccccctttccgg	16	14	0	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr16:70820149C>T	ENST00000261776.5	-	2	484	c.224G>A	c.(223-225)gGc>gAc	p.G75D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	75					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGCGGCCAGGCCGATGAGGCC	0.617																																																	0								ENSG00000103043						81	83	82					16																	70820149		2198	4300	6498	VAC14	SO:0001583	missense	0			-	HGNC	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.224G>A	16.37:g.70820149C>T	ENSP00000261776:p.Gly75Asp	Somatic	0	74	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	58	17.14	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP							pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.G75D	ENST00000261776.5	37	c.224	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.440208	0.96168	.	.	ENSG00000103043	ENST00000261776	T	0.66995	-0.24	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87691	0.2554	10	0.87932	D	0	-30.9136	19.7404	0.96228	0.0:1.0:0.0:0.0	.	75	Q08AM6	VAC14_HUMAN	D	75	ENSP00000261776:G75D	ENSP00000261776:G75D	G	-	2	0	VAC14	69377650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.734000	0.84928	2.661000	0.90470	0.650000	0.86243	GGC	-	superfamily_ARM-type_fold		0.617	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	protein_coding	OTTHUMT00000268973.3	C	NM_018052	-		70820149	-1	no_errors	ENST00000261776	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70820149	C	T	70820149	3	4	12	1	0	0	0	0	1	0	0	0	17118	739	26	2	2196	2	VAC14	16	70820149	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	13898285	70820149	19534604	36	917											
VMO1	284013	genome.wustl.edu	37	chr17	4688713	4688713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtgtcatcgccgaggcCtctaggtccctggatcttgg	13	13	3	0	rs377200420		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr17:4688713C>T	ENST00000328739.5	-	3	632	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000354194.4_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	185						extracellular vesicular exosome (GO:0070062)		p.G185C(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TCGCCGAGGCCTCTAGGTCCC	0.672																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000182853	C	,,,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	54	52	52		,,,553	4.8	0.1	17		52	0,8600		0,0,4300	no	utr-3,utr-3,utr-3,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	,,,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,probably-damaging	,,,185/203	4688713	1,13005	2203	4300	6503	VMO1	SO:0001583	missense	0			-	HGNC	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.553G>A	17.37:g.4688713C>T	ENSP00000328397:p.Gly185Ser	Somatic	0	132	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	51	22.73	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP							pfam_VOMI,superfamily_VOMI	p.G185S	ENST00000328739.5	37	c.553	CCDS11055.1	17	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180998	0.38511	2.27E-4	0.0	ENSG00000182853	ENST00000328739	T	0.51325	0.71	4.77	4.77	0.60923	.	0.254416	0.40385	N	0.001101	T	0.68879	0.3049	M	0.78801	2.425	0.25211	N	0.989978	D	0.89917	1.0	D	0.83275	0.996	T	0.63028	-0.6728	10	0.56958	D	0.05	-29.602	15.333	0.74229	0.0:1.0:0.0:0.0	.	185	Q7Z5L0	VMO1_HUMAN	S	185	ENSP00000328397:G185S	ENSP00000328397:G185S	G	-	1	0	VMO1	4635453	0.083000	0.21467	0.122000	0.21767	0.021000	0.10359	2.271000	0.43364	2.491000	0.84063	0.561000	0.74099	GGC	-	pfam_VOMI,superfamily_VOMI		0.672	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	protein_coding	OTTHUMT00000439587.1	C	NM_182566	-		4688713	-1	no_errors	ENST00000328739	ensembl	human	known	74_37	missense	SNP	0.044	T	T	4688713	C	T	4688713	3	4	12	1	0	0	0	0	1	0	0	0	17184	681	24	2	59	2	VMO1	17	4688713	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		4688713	76506497	37	918											
TP53	7157	genome.wustl.edu	37	chr17	7578464	7578464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatggccatggcgcggacgcGggtgccgggcgggggtgtgg	24	9	0	0	rs563378859		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr17:7578464G>C	ENST00000269305.4	-	5	655	c.466C>G	c.(466-468)Cgc>Ggc	p.R156G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R156G|TP53_ENST00000420246.2_Missense_Mutation_p.R156G|TP53_ENST00000413465.2_Missense_Mutation_p.R156G|TP53_ENST00000445888.2_Missense_Mutation_p.R156G|TP53_ENST00000359597.4_Missense_Mutation_p.R156G	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	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (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.R156fs*14(9)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)	GCGCGGACGCGGGTGCCGGGC	0.612		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	58	Deletion - Frameshift(24)|Deletion - In frame(11)|Whole gene deletion(8)|Substitution - Missense(8)|Unknown(5)|Insertion - Frameshift(2)	skin(7)|ovary(7)|upper_aerodigestive_tract(5)|lung(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|urinary_tract(2)|liver(2)|pancreas(2)|soft_tissue(1)|genital_tract(1)						ENSG00000141510						50	52	51					17																	7578464		2203	4300	6503	TP53	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;	-	HGNC	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.466C>G	17.37:g.7578464G>C	ENSP00000269305:p.Arg156Gly	Somatic	0	42	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	10	47.37	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R156G	ENST00000269305.4	37	c.466	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873152	0.33069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	5.47	1.13	0.20643	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.99447	0.9804	M	0.73598	2.24	0.09310	N	1	D;P;P;P;P;P;D	0.65815	0.995;0.792;0.615;0.928;0.719;0.914;0.977	D;P;B;P;P;P;P	0.64595	0.927;0.624;0.338;0.682;0.661;0.813;0.759	D	0.98395	1.0565	10	0.72032	D	0.01	-1.0137	1.5494	0.02571	0.2515:0.1413:0.4617:0.1454	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156G;ENSP00000352610:R156G;ENSP00000269305:R156G;ENSP00000398846:R156G;ENSP00000391127:R156G;ENSP00000391478:R156G;ENSP00000425104:R24G;ENSP00000423862:R63G;ENSP00000424104:R156G	ENSP00000269305:R156G	R	-	1	0	TP53	7519189	0.068000	0.21057	0.000000	0.03702	0.074000	0.17049	-0.035000	0.12205	0.068000	0.16574	0.563000	0.77884	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7578464	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.010	C	C	7578464	G	C	7578464	3	2	12	1	0	0	0	0	1	0	0	0	16388	1116	39	4	832	4	TP53	17	7578464	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	2889751	7578464	73616746	38	919											
GUCY2D	3000	genome.wustl.edu	37	chr17	7918813	7918813	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgcatccgcataggcctGcactcgggtaactcccgggt	13	14	0	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr17:7918813G>T	ENST00000254854.4	+	15	3087	c.2937G>T	c.(2935-2937)ctG>ctT	p.L979L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	979	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)				GCATAGGCCTGCACTCGGGTA	0.617																																																	0								ENSG00000132518						30	25	27					17																	7918813		2203	4300	6503	GUCY2D	SO:0001819	synonymous_variant	0			-	HGNC	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.2937G>T	17.37:g.7918813G>T		Somatic	0	97	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q6LEA7	Silent	SNP							pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L979	ENST00000254854.4	37	c.2937	CCDS11127.1	17																																																																																			-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.617	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	protein_coding	OTTHUMT00000226973.2	G		-		7918813	1	no_errors	ENST00000254854	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7918813	G	T	7918813	2	4	12	1	0	0	0	0	0	0	0	1	6899	1306	46	3		3	GUCY2D	17	7918813	Silent	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	340349	7918813	73276397	39	920											
MFAP4	4239	genome.wustl.edu	37	chr17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccatcctcaaagcctGccacaaagagggtgtagcca	9	16	1	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr17:19288435G>A	ENST00000299610.4	-	5	581	c.497C>T	c.(496-498)gCa>gTa	p.A166V	MFAP4_ENST00000395592.2_Missense_Mutation_p.A190V|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)		p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000166482						129	105	113					17																	19288435		2203	4300	6503	MFAP4	SO:0001583	missense	0			-	HGNC	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.497C>T	17.37:g.19288435G>A	ENSP00000299610:p.Ala166Val	Somatic	0	48	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A190V	ENST00000299610.4	37	c.569	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360265	0.41801	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.77620	-1.11;-1.11	5.0	4.02	0.46733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.749735	0.12134	N	0.496459	T	0.64735	0.2625	N	0.17872	0.535	0.09310	N	1	B;B	0.32365	0.149;0.367	B;B	0.33960	0.124;0.173	T	0.58797	-0.7573	10	0.72032	D	0.01	.	8.3656	0.32385	0.0:0.1709:0.652:0.1771	.	166;190	P55083;A8MVM2	MFAP4_HUMAN;.	V	190;166	ENSP00000378957:A190V;ENSP00000299610:A166V	ENSP00000299610:A166V	A	-	2	0	MFAP4	19229028	0.000000	0.05858	0.895000	0.35142	0.808000	0.45660	0.269000	0.18589	1.326000	0.45319	-0.323000	0.08544	GCA	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.602	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	protein_coding	OTTHUMT00000132493.2	G	NM_002404	-		19288435	-1	no_errors	ENST00000395592	ensembl	human	known	74_37	missense	SNP	0.125	A	A	19288435	G	A	19288435	3	1	12	1	0	0	0	0	1	0	0	0	9519	1319	46	2	278	2	MFAP4	17	19288435	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	11369622	19288435	61906775	40	921											
PNPLA6	10908	genome.wustl.edu	37	chr19	7618810	7618810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcaccaacccagccagCaacctggcaactgtggcaat	8	15	1	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr19:7618810C>T	ENST00000221249.6	+	22	2627	c.2196C>T	c.(2194-2196)agC>agT	p.S732S	PNPLA6_ENST00000600737.1_Silent_p.S770S|PNPLA6_ENST00000450331.3_Silent_p.S732S|PNPLA6_ENST00000414982.3_Silent_p.S780S|PNPLA6_ENST00000545201.2_Silent_p.S705S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	771					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.S732R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCCAGCCAGCAACCTGGCAA	0.607																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000032444						73	60	64					19																	7618810		2203	4300	6503	PNPLA6	SO:0001819	synonymous_variant	0			-	HGNC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2196C>T	19.37:g.7618810C>T		Somatic	0	66	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S780	ENST00000221249.6	37	c.2340	CCDS32891.1	19																																																																																			-	NULL		0.607	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	protein_coding	OTTHUMT00000459275.1	C	NM_006702	-		7618810	1	no_errors	ENST00000414982	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7618810	C	T	7618810	2	4	12	1	0	0	0	0	0	0	0	1	12171	709	25	2		2	PNPLA6	19	7618810	Silent	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		7618810	51510173	41	922											
ANKLE1	126549	genome.wustl.edu	37	chr19	17394750	17394750	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agttgtaccaccagcagctgGaagaagcccagattgctcct	10	12	0	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr19:17394750G>T	ENST00000394458.3	+	5	1453	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	ANKLE1_ENST00000594072.1_Intron|ANKLE1_ENST00000433424.2_Intron|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000404085.1_Intron	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	393	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCAGCAGCTGGAAGAAGCCCA	0.577																																																	0								ENSG00000160117						62	66	65					19																	17394750		2203	4300	6503	ANKLE1	SO:0001587	stop_gained	0			-	HGNC	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1177G>T	19.37:g.17394750G>T	ENSP00000377971:p.Glu393*	Somatic	0	44	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A8VU82|Q8N8J8	Nonsense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom	p.E393*	ENST00000394458.3	37	c.1177	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253330	0.80135	.	.	ENSG00000160117	ENST00000404261	.	.	.	5.03	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999886	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.7444	12.9499	0.58394	0.2098:0.5923:0.1978:0.0	.	.	.	.	X	393	.	ENSP00000384753:E393X	E	+	1	0	ANKLE1	17255750	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.063000	0.03465	-2.318000	0.00644	-2.122000	0.00348	GAA	-	superfamily_LEM/LEM-like_dom,pfscan_LEM_dom		0.577	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	protein_coding	OTTHUMT00000325392.2	G	NM_152363	-		17394750	1	no_errors	ENST00000394458	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	17394750	G	T	17394750	4	4	12	1	0	0	0	0	0	1	0	0	632	1175	41	3	1195	3	ANKLE1	19	17394750	Nonsense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	9775940	17394750	41734233	42	923											
SPTBN4	57731	genome.wustl.edu	37	chr19	41008344	41008344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcttcagcatccagaGcaaactgcgtgcctgcaacc	9	15	2	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr19:41008344G>A	ENST00000352632.3	+	10	1219	c.1133G>A	c.(1132-1134)aGc>aAc	p.S378N	SPTBN4_ENST00000595535.1_Missense_Mutation_p.S378N|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S378N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.S378N|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S378N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	378					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCATCCAGAGCAAACTGCGT	0.632																																																	0								ENSG00000160460						72	72	72					19																	41008344		2203	4300	6503	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1133G>A	19.37:g.41008344G>A	ENSP00000263373:p.Ser378Asn	Somatic	0	29	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S378N	ENST00000352632.3	37	c.1133	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039394	0.75617	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.68903	-0.36;-0.36;-0.36	3.54	3.54	0.40534	.	0.073352	0.52532	U	0.000078	T	0.80539	0.4642	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.935;0.999	D	0.83639	0.0149	10	0.72032	D	0.01	.	15.0565	0.71917	0.0:0.0:1.0:0.0	.	378;378	Q9H254;Q71S06	SPTN4_HUMAN;.	N	378	ENSP00000263373:S378N;ENSP00000340345:S378N;ENSP00000340741:S378N	ENSP00000340345:S378N	S	+	2	0	SPTBN4	45700184	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	4.676000	0.61627	2.283000	0.76528	0.563000	0.77884	AGC	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41008344	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41008344	G	A	41008344	3	1	12	1	0	0	0	0	1	0	0	0	15128	971	34	2	1167	2	SPTBN4	19	41008344	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	23613594	41008344	18120639	43	924											
NFS1	9054	genome.wustl.edu	37	chr20	34263057	34263057	+	Frame_Shift_Del	DEL	C	C	-													gaccgcataccccgctcctgCccccctccactctgcagggc							TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr20:34263057delC	ENST00000374092.4	-	8	928	c.858delG	c.(856-858)gggfs	p.G286fs	NFS1_ENST00000397425.1_Frame_Shift_Del_p.G226fs|NFS1_ENST00000498084.1_5'Flank|NFS1_ENST00000540053.1_Frame_Shift_Del_p.G84fs|NFS1_ENST00000374085.1_Frame_Shift_Del_p.G226fs|RP1-309K20.6_ENST00000541176.2_5'Flank|NFS1_ENST00000541387.1_Frame_Shift_Del_p.G235fs	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	286					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CCCGCTCCTGCCCCCCTCCAC	0.607																																																	0								ENSG00000244005						31	31	31					20																	34263057		2203	4300	6503	NFS1	SO:0001589	frameshift_variant	0				HGNC	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.858delG	20.37:g.34263057delC	ENSP00000363205:p.Gly286fs	Somatic	0	29	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Frame_Shift_Del	DEL							pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase	p.Q287fs	ENST00000374092.4	37	c.858	CCDS13262.1	20																																																																																			-	pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase		0.607	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFS1	protein_coding	OTTHUMT00000078936.4	C	NM_021100			34263057	-1	no_errors	ENST00000374092	ensembl	human	known	74_37	frame_shift_del	DEL	0.981	-	-	34263057	C	-	34263057	7	5	12	1	0	1	0	1	0	0	0	0	10387	726	26	0	539	0	NFS1	20	34263057	Frame_Shift_Del	DEL	C	TCGA-3B-A9HX-01A-11D-A38Z-09		34263057	28762463	44	925											
DOPEY2	9980	genome.wustl.edu	37	chr21	37610931	37610931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctctgtttagattttcCgtgatctggcatctgacaag	10	8	3	3	rs373989624		TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr21:37610931C>T	ENST00000399151.3	+	17	2893	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	936					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						TTAGATTTTCCGTGATCTGGC	0.463																																																	0								ENSG00000142197	C		0,4406		0,0,2203	131	112	119		2808	-6.4	0.2	21		119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DOPEY2	NM_005128.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		936/2299	37610931	2,13004	2203	4300	6503	DOPEY2	SO:0001819	synonymous_variant	0			-	HGNC	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.2808C>T	21.37:g.37610931C>T		Somatic	0	72	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP							pfam_Dopey_N	p.S936	ENST00000399151.3	37	c.2808	CCDS13643.1	21																																																																																			-	NULL		0.463	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	C	NM_005128	-		37610931	1	no_errors	ENST00000399151	ensembl	human	known	74_37	silent	SNP	0.659	T	T	37610931	C	T	37610931	2	4	12	1	0	0	0	0	0	0	0	1	4710	639	23	1		1	DOPEY2	21	37610931	Silent	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		37610931	10518964	45	926											
RGL4	266747	genome.wustl.edu	37	chr22	24036039	24036039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcacatggcacccacagttCgtgccaccatcgcacacttc	7	17	0	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr22:24036039C>T	ENST00000290691.5	+	4	1960	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.R128C|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	264	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ACCCACAGTTCGTGCCACCAT	0.607																																																	0								ENSG00000159496						179	116	137					22																	24036039		2203	4300	6503	RGL4	SO:0001583	missense	0			-	HGNC		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.790C>T	22.37:g.24036039C>T	ENSP00000290691:p.Arg264Cys	Somatic	0	53	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q495L8	Missense_Mutation	SNP							pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.R264C	ENST00000290691.5	37	c.790	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	c	7.910	0.736264	0.15574	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.31769	1.48;1.48;1.48	2.95	-1.76	0.08006	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.567956	0.15676	N	0.250138	T	0.16981	0.0408	N	0.24115	0.695	0.32027	N	0.600062	B;B;B;B	0.18461	0.02;0.02;0.028;0.015	B;B;B;B	0.14578	0.007;0.01;0.01;0.011	T	0.09314	-1.0680	10	0.48119	T	0.1	.	7.539	0.27727	0.0:0.5612:0.0:0.4388	.	128;128;264;264	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	C	128;264;264;264	ENSP00000383951:R128C;ENSP00000290691:R264C;ENSP00000402142:R264C	ENSP00000290691:R264C	R	+	1	0	RGL4	22366039	0.999000	0.42202	0.000000	0.03702	0.002000	0.02628	0.568000	0.23623	-0.241000	0.09681	-1.142000	0.01873	CGT	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.607	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	protein_coding	OTTHUMT00000319711.1	C	NM_153615	-		24036039	1	no_errors	ENST00000290691	ensembl	human	known	74_37	missense	SNP	0.917	T	T	24036039	C	T	24036039	3	4	12	1	0	0	0	0	1	0	0	0	13287	884	31	1	804	1	RGL4	22	24036039	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		24036039	27268527	46	927											
FBLN1	2192	genome.wustl.edu	37	chr22	45921483	45921483	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcactgtgccacgggcatCagcctggccaacgagcagga	13	14	1	0			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chr22:45921483C>T	ENST00000327858.6	+	3	341	c.246C>T	c.(244-246)atC>atT	p.I82I	FBLN1_ENST00000402984.3_Silent_p.I120I|FBLN1_ENST00000262722.7_Silent_p.I82I|FBLN1_ENST00000340923.5_Silent_p.I82I|FBLN1_ENST00000442170.2_Silent_p.I82I|FBLN1_ENST00000348697.2_Silent_p.I82I	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	82	Anaphylatoxin-like 2. {ECO:0000255|PROSITE-ProRule:PRU00022}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCACGGGCATCAGCCTGGCCA	0.652																																																	0								ENSG00000077942						49	33	38					22																	45921483		2014	3828	5842	FBLN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.246C>T	22.37:g.45921483C>T		Somatic	0	67	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.I82	ENST00000327858.6	37	c.246	CCDS14067.1	22																																																																																			-	smart_Anaphylatoxin/fibulin,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin		0.652	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	protein_coding	OTTHUMT00000322287.1	C	NM_006486	-		45921483	1	no_errors	ENST00000327858	ensembl	human	known	74_37	silent	SNP	1.000	T	T	45921483	C	T	45921483	2	4	12	1	0	0	0	0	0	0	0	1	5700	816	29	2		2	FBLN1	22	45921483	Silent	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	21885444	45921483	5383083	47	928											
NLGN4X	57502	genome.wustl.edu	37	chrX	6069226	6069226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgccagtccaggaggaCgggggttctgggggctgaaa	19	8	1	1			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chrX:6069226C>T	ENST00000381095.3	-	2	909	c.282G>A	c.(280-282)ccG>ccA	p.P94P	NLGN4X_ENST00000381092.1_Silent_p.P94P|NLGN4X_ENST00000275857.6_Silent_p.P94P|NLGN4X_ENST00000538097.1_Silent_p.P94P|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.P94P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	94					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCCAGGAGGACGGGGGTTCTG	0.577																																																	0								ENSG00000146938						69	63	65					X																	6069226		2203	4300	6503	NLGN4X	SO:0001819	synonymous_variant	0			-	HGNC	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.282G>A	X.37:g.6069226C>T		Somatic	0	74	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	23	54.72	Q6UX10|Q9ULG0	Silent	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P94	ENST00000381095.3	37	c.282	CCDS14126.1	X																																																																																			-	pfam_CarbesteraseB		0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	C	NM_020742	-		6069226	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	silent	SNP	0.000	T	T	6069226	C	T	6069226	2	4	12	1	0	0	0	0	0	0	0	1	10466	523	19	1		1	NLGN4X	23	6069226	Silent	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09		6069226	149201334	48	929											
HCCS	3052	genome.wustl.edu	37	chrX	11136723	11136723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggagattttgaagtgGgaagcccttcatgctgcgta	14	6	1	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chrX:11136723G>T	ENST00000321143.4	+	5	706	c.504G>T	c.(502-504)tgG>tgT	p.W168C	HCCS_ENST00000380762.4_Missense_Mutation_p.W168C|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380763.3_Missense_Mutation_p.W168C|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	168					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TTTTGAAGTGGGAAGCCCTTC	0.353																																					Ovarian(86;1338 1347 1462 10340 37882)												0								ENSG00000004961						131	121	125					X																	11136723		2203	4300	6503	HCCS	SO:0001583	missense	0			-	HGNC		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.504G>T	X.37:g.11136723G>T	ENSP00000326579:p.Trp168Cys	Somatic	0	92	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	84	18.45	B3KUS1|Q502X8	Missense_Mutation	SNP							pfam_Cyt_C/C1_haem_lyase	p.W168C	ENST00000321143.4	37	c.504	CCDS14139.1	X	.	.	.	.	.	.	.	.	.	.	g	19.49	3.837172	0.71373	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.89050	-2.46;-2.46;-2.46	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96445	0.8840	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97760	1.0220	10	0.87932	D	0	-14.9853	15.9238	0.79597	0.0:0.0:1.0:0.0	.	168	P53701	CCHL_HUMAN	C	168	ENSP00000326579:W168C;ENSP00000370140:W168C;ENSP00000370139:W168C	ENSP00000326579:W168C	W	+	3	0	HCCS	11046644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.236000	0.95360	2.360000	0.80028	0.597000	0.82753	TGG	-	pfam_Cyt_C/C1_haem_lyase		0.353	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCCS	protein_coding	OTTHUMT00000055742.1	G		-		11136723	1	no_errors	ENST00000321143	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11136723	G	T	11136723	3	4	12	1	0	0	0	0	1	0	0	0	6992	1241	43	3	518	3	HCCS	23	11136723	Missense_Mutation	SNP	G	TCGA-3B-A9HX-01A-11D-A38Z-09	5067497	11136723	144133837	49	930											
RBBP7	5931	genome.wustl.edu	37	chrX	16875809	16875809	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgacctcttaatctgagatCaggattacattctccacttg	7	10	4	2			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chrX:16875809C>A	ENST00000380087.2	-	5	865	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	RBBP7_ENST00000404022.1_Missense_Mutation_p.D160Y|RBBP7_ENST00000380084.4_Missense_Mutation_p.D213Y			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	169					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AATCTGAGATCAGGATTACAT	0.383																																																	0								ENSG00000102054						161	137	145					X																	16875809		2203	4300	6503	RBBP7	SO:0001583	missense	0			-	HGNC	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.505G>T	X.37:g.16875809C>A	ENSP00000369427:p.Asp169Tyr	Somatic	0	62	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	40	60.00	Q5JP00	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D169Y	ENST00000380087.2	37	c.505	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609181	0.87258	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000416035	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.01	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	N	0.17379	0.485	0.80722	D	1	D;B;D;D	0.67145	0.977;0.035;0.996;0.992	P;B;D;D	0.65874	0.882;0.087;0.939;0.925	T	0.72279	-0.4340	10	0.87932	D	0	-0.0322	17.1671	0.86819	0.0:1.0:0.0:0.0	.	155;160;169;213	B0R0W4;E9PC52;Q16576;Q5JP00	.;.;RBBP7_HUMAN;.	Y	169;213;160;89	ENSP00000369427:D169Y;ENSP00000369424:D213Y;ENSP00000386068:D160Y;ENSP00000392714:D89Y	ENSP00000369424:D213Y	D	-	1	0	RBBP7	16785730	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.351000	0.79841	0.513000	0.50165	GAT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.383	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	protein_coding	OTTHUMT00000055920.2	C	NM_002893	-		16875809	-1	no_errors	ENST00000380087	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16875809	C	A	16875809	3	1	12	1	0	0	0	0	1	0	0	0	13112	826	29	3	804	3	RBBP7	23	16875809	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	5739086	16875809	138394751	50	931											
ATRX	546	genome.wustl.edu	37	chrX	76890128	76890128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagtgggcaagaatgcatCctgaacctggagatttcttt	10	8	1	3			TCGA-3B-A9HX-01A-11D-A38Z-09	TCGA-3B-A9HX-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fe4e8f7-b729-4f00-9d09-a95a23e97fe3	385e008c-dae7-4b29-9287-16863463e7c6	g.chrX:76890128C>T	ENST00000373344.5	-	17	4980	c.4766G>A	c.(4765-4767)gGa>gAa	p.G1589E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.G1551E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1589	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G1589V(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGAATGCATCCTGAACCTGG	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Missense(1)|Unknown(1)	central_nervous_system(1)|bone(1)						ENSG00000085224						179	175	176					X																	76890128		2203	4296	6499	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4766G>A	X.37:g.76890128C>T	ENSP00000362441:p.Gly1589Glu	Somatic	0	119	0		0.59347041921301				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	51	44.57	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G1589E	ENST00000373344.5	37	c.4766	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014706	0.75161	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.26373	1.74;1.74	5.77	5.77	0.91146	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83198	-0.0080	10	0.87932	D	0	-9.7166	18.913	0.92493	0.0:1.0:0.0:0.0	.	1551;1589	P46100-4;P46100	.;ATRX_HUMAN	E	1589;1551	ENSP00000362441:G1589E;ENSP00000378967:G1551E	ENSP00000362441:G1589E	G	-	2	0	ATRX	76776784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	GGA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76890128	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76890128	C	T	76890128	3	4	12	1	0	0	0	0	1	0	0	0	1208	855	30	2	2788	2	ATRX	23	76890128	Missense_Mutation	SNP	C	TCGA-3B-A9HX-01A-11D-A38Z-09	60014319	76890128	78380432	51	932											
KPNA6	23633	genome.wustl.edu	37	chr1	32625019	32625019	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtttgaagctgcctgggctCtaacgaatattgcctctgga	11	9	2	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:32625019C>T	ENST00000373625.3	+	6	538	c.445C>T	c.(445-447)Cta>Tta	p.L149L	KPNA6_ENST00000545542.1_Silent_p.L154L|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Silent_p.L146L	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	149	NLS binding site (major). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCCTGGGCTCTAACGAATAT	0.453																																																	0								ENSG00000025800						136	132	134					1																	32625019		2203	4300	6503	KPNA6	SO:0001819	synonymous_variant	0			-	HGNC	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.445C>T	1.37:g.32625019C>T		Somatic	0	41	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	B2RDC7|D3DPP5|Q5VVU3	Silent	SNP							pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.L154	ENST00000373625.3	37	c.460	CCDS352.1	1																																																																																			-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.453	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	protein_coding	OTTHUMT00000012527.4	C	NM_012316	-		32625019	1	no_errors	ENST00000545542	ensembl	human	known	74_37	silent	SNP	1.000	T	T	32625019	C	T	32625019	2	4	13	1	0	0	0	0	0	0	0	1	8436	912	32	2		2	KPNA6	1	32625019	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		32625019	216625602	1	933											
RSPO1	284654	genome.wustl.edu	37	chr1	38082190	38082190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtcggggttgcgggcgtcGaagtatccaggtgggcagga	19	7	0	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:38082190G>T	ENST00000401069.1	-	4	964	c.252C>A	c.(250-252)ttC>ttA	p.F84L	RSPO1_ENST00000356545.2_Missense_Mutation_p.F84L|RSPO1_ENST00000401071.2_Missense_Mutation_p.F84L|RSPO1_ENST00000401070.1_Missense_Mutation_p.F84L|RSPO1_ENST00000373059.1_Missense_Mutation_p.F57L|RSPO1_ENST00000401068.1_Missense_Mutation_p.F84L	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	84					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.F84F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCGGGCGTCGAAGTATCCAG	0.617																																					GBM(122;680 2230 27822 42821)												1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000169218						54	58	56					1																	38082190		2024	4173	6197	RSPO1	SO:0001583	missense	0			-	HGNC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.252C>A	1.37:g.38082190G>T	ENSP00000383847:p.Phe84Leu	Somatic	0	25	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.F84L	ENST00000401069.1	37	c.252	CCDS41304.1	1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550368	0.65311	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.79	-3.98	0.04082	Growth factor, receptor (1);	0.168023	0.53938	D	0.000051	T	0.77778	0.4181	M	0.79123	2.44	0.54753	D	0.999988	P;D;P	0.53312	0.893;0.959;0.883	B;P;B	0.46299	0.406;0.511;0.313	T	0.81387	-0.0956	10	0.72032	D	0.01	.	15.5038	0.75722	0.5999:0.0:0.4001:0.0	.	84;57;84	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	L	57;84;84;84;84;84	ENSP00000362150:F57L;ENSP00000383848:F84L;ENSP00000348944:F84L;ENSP00000383849:F84L;ENSP00000383847:F84L;ENSP00000383846:F84L	ENSP00000348944:F84L	F	-	3	2	RSPO1	37854777	0.802000	0.28943	0.970000	0.41538	0.990000	0.78478	-0.001000	0.12947	-0.611000	0.05709	0.555000	0.69702	TTC	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat		0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO1	protein_coding	OTTHUMT00000012477.2	G	NM_173640	-		38082190	-1	no_errors	ENST00000356545	ensembl	human	known	74_37	missense	SNP	0.928	T	T	38082190	G	T	38082190	3	4	13	1	0	0	0	0	1	0	0	0	13717	1049	37	3	555	3	RSPO1	1	38082190	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	5457171	38082190	211168431	2	934											
DOCK7	85440	genome.wustl.edu	37	chr1	63113413	63113413	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaatgttctttgggtAtatcaggaacactaagccgt	9	8	2	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:63113413A>T	ENST00000340370.5	-	7	784	c.767T>A	c.(766-768)aTa>aAa	p.I256K	DOCK7_ENST00000251157.5_Missense_Mutation_p.I256K|DOCK7_ENST00000404627.2_Missense_Mutation_p.I256K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	256					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCTTTGGGTATATCAGGAAC	0.303																																																	0								ENSG00000116641						130	145	140					1																	63113413		2203	4296	6499	DOCK7	SO:0001583	missense	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.767T>A	1.37:g.63113413A>T	ENSP00000340742:p.Ile256Lys	Somatic	0	114	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	80	34.96	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.I256K	ENST00000340370.5	37	c.767	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070342	0.55539	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.16324	2.35;2.35;2.35	5.17	4.04	0.47022	.	0.376195	0.29715	N	0.011391	T	0.09024	0.0223	L	0.55213	1.73	0.38609	D	0.950842	B;B;B;B;B	0.25850	0.136;0.039;0.01;0.001;0.0	B;B;B;B;B	0.33121	0.091;0.158;0.071;0.018;0.002	T	0.05194	-1.0900	10	0.32370	T	0.25	.	10.7896	0.46426	0.9259:0.0:0.0741:0.0	.	256;256;256;256;256	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	K	256	ENSP00000251157:I256K;ENSP00000340742:I256K;ENSP00000384446:I256K	ENSP00000251157:I256K	I	-	2	0	DOCK7	62886001	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	6.107000	0.71517	0.976000	0.38417	0.460000	0.39030	ATA	-	NULL		0.303	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	A	NM_033407	-		63113413	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63113413	A	T	63113413	3	4	13	1	0	0	0	0	1	0	0	0	4694	449	16	5	5734	5	DOCK7	1	63113413	Missense_Mutation	SNP	A	TCGA-3B-A9HY-01A-11D-A38Z-09	25031223	63113413	186137208	3	935											
PALMD	54873	genome.wustl.edu	37	chr1	100154947	100154947	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagagagacaatatttggGaaatctgaacaccagaattc	8	9	1	4			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:100154947G>A	ENST00000263174.4	+	7	1506	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	PALMD_ENST00000605497.1_Silent_p.G377G	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	377					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CAATATTTGGGAAATCTGAAC	0.448																																																	0								ENSG00000099260						51	46	48					1																	100154947		2203	4300	6503	PALMD	SO:0001819	synonymous_variant	0			-	HGNC	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1131G>A	1.37:g.100154947G>A		Somatic	0	22	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP							pfam_Paralemmin	p.G377	ENST00000263174.4	37	c.1131	CCDS758.1	1																																																																																			-	NULL		0.448	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	protein_coding	OTTHUMT00000029672.1	G	NM_017734	-		100154947	1	no_errors	ENST00000263174	ensembl	human	known	74_37	silent	SNP	0.074	A	A	100154947	G	A	100154947	2	1	13	1	0	0	0	0	0	0	0	1	11413	1161	41	2		2	PALMD	1	100154947	Silent	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	37041534	100154947	149095674	4	936											
HRNR	388697	genome.wustl.edu	37	chr1	152192912	152192912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcatgctgaccatagctgGaagactgacgtgagctggag	13	9	1	4			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:152192912G>A	ENST00000368801.2	-	3	1268	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	398					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGGAAGACTGACG	0.607																																																	0								ENSG00000197915						156	133	141					1																	152192912		2203	4300	6503	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1193C>T	1.37:g.152192912G>A	ENSP00000357791:p.Ser398Phe	Somatic	0	30	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S398F	ENST00000368801.2	37	c.1193	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	6.738	0.504981	0.12822	.	.	ENSG00000197915	ENST00000368801	T	0.11604	2.76	3.63	2.71	0.32032	.	.	.	.	.	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.55055	0.767	T	0.36601	-0.9741	9	0.34782	T	0.22	.	8.8573	0.35236	0.1154:0.0:0.8846:0.0	.	398	Q86YZ3	HORN_HUMAN	F	398	ENSP00000357791:S398F	ENSP00000357791:S398F	S	-	2	0	HRNR	150459536	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.288000	0.33296	0.877000	0.35895	0.644000	0.83932	TCC	-	NULL		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	G	XM_373868	-		152192912	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.002	A	A	152192912	G	A	152192912	3	1	13	1	0	0	0	0	1	0	0	0	7361	1174	41	2	7363	2	HRNR	1	152192912	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	52037965	152192912	97057709	5	937											
OTOF	9381	genome.wustl.edu	37	chr2	26707374	26707374	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgtcggtctcattggcCttgtggggcgtcttgatgtt	13	9	3	1	rs483353050		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:26707374C>G	ENST00000272371.2	-	12	1299	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	OTOF_ENST00000403946.3_Missense_Mutation_p.K391N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	391					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCATTGGCCTTGTGGGGCG	0.627																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155						176	138	151					2																	26707374		2203	4300	6503	OTOF	SO:0001583	missense	0			-	HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1173G>C	2.37:g.26707374C>G	ENSP00000272371:p.Lys391Asn	Somatic	0	54	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	4	85.71	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K391N	ENST00000272371.2	37	c.1173	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578979	0.65878	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.81247	-1.47;-1.47	4.84	4.84	0.62591	FerIin domain (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.88570	2.965	0.51233	D	0.999911	D	0.89917	1.0	D	0.87578	0.998	D	0.88234	0.2905	10	0.37606	T	0.19	-28.1837	7.5876	0.28002	0.0:0.8163:0.0:0.1837	.	391	Q9HC10	OTOF_HUMAN	N	391	ENSP00000272371:K391N;ENSP00000385255:K391N	ENSP00000272371:K391N	K	-	3	2	OTOF	26560878	0.989000	0.36119	1.000000	0.80357	0.958000	0.62258	0.285000	0.18883	2.243000	0.73865	0.462000	0.41574	AAG	-	pfam_FerIin-domain		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	C		-		26707374	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	SNP	1.000	G	G	26707374	C	G	26707374	3	3	13	1	0	0	0	0	1	0	0	0	11305	680	24	4	5289	4	OTOF	2	26707374	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		26707374	216491999	6	938											
CNTNAP5	129684	genome.wustl.edu	37	chr2	124999804	124999804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggttggtccccagcagattCcaatgctcaacagtggctcc	10	14	1	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:124999804C>A	ENST00000431078.1	+	3	579	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	72	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)		CCAGCAGATTCCAATGCTCAA	0.493																																																	0								ENSG00000155052						45	47	46					2																	124999804		1976	4156	6132	CNTNAP5	SO:0001583	missense	0			-	HGNC	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.215C>A	2.37:g.124999804C>A	ENSP00000399013:p.Ser72Tyr	Somatic	0	31	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	28	52.54	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S72Y	ENST00000431078.1	37	c.215	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.083084	0.94050	.	.	ENSG00000155052	ENST00000431078	D	0.97598	-4.45	5.71	5.71	0.89125	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	D	0.98661	0.9551	M	0.87269	2.87	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	D	0.99577	1.0972	10	0.87932	D	0	.	18.8368	0.92165	0.0:1.0:0.0:0.0	.	72	Q8WYK1	CNTP5_HUMAN	Y	72	ENSP00000399013:S72Y	ENSP00000399013:S72Y	S	+	2	0	CNTNAP5	124716274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.660000	0.83776	2.696000	0.92011	0.650000	0.86243	TCC	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	C		-		124999804	1	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124999804	C	A	124999804	3	1	13	1	0	0	0	0	1	0	0	0	3652	855	30	3	225	3	CNTNAP5	2	124999804	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	98292430	124999804	118199569	7	939											
WIPF1	7456	genome.wustl.edu	37	chr2	175439998	175439998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaatcctcccagacctgGaggtccgccccctccaaaac	7	18	0	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:175439998G>A	ENST00000392547.2	-	4	391	c.292C>T	c.(292-294)Cca>Tca	p.P98S	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P98S|WIPF1_ENST00000272746.5_Missense_Mutation_p.P98S|WIPF1_ENST00000410117.1_Missense_Mutation_p.P98S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P98S|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P98S|WIPF1_ENST00000409415.3_Missense_Mutation_p.P98S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	98					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						CCCAGACCTGGAGGTccgccc	0.607																																																	0								ENSG00000115935						99	101	100					2																	175439998		2203	4300	6503	WIPF1	SO:0001583	missense	0			-	HGNC	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.292C>T	2.37:g.175439998G>A	ENSP00000376330:p.Pro98Ser	Somatic	0	55	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP							smart_WH2_dom,pfscan_WH2_dom	p.P98S	ENST00000392547.2	37	c.292	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210467	0.79240	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;2.43;1.62	5.28	5.28	0.74379	.	0.197329	0.44097	D	0.000483	D	0.88749	0.6521	M	0.73962	2.25	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;0.985	D;D;D;P	0.87578	0.998;0.996;0.998;0.842	D	0.85280	0.1061	10	0.15066	T	0.55	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	98;98;98;98	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	98;98;98;98;98;98;98;95;98;98	ENSP00000376330:P98S;ENSP00000272746:P98S;ENSP00000352802:P98S;ENSP00000376329:P98S;ENSP00000386431:P98S;ENSP00000387150:P98S;ENSP00000391785:P95S;ENSP00000386757:P98S	ENSP00000272746:P98S	P	-	1	0	WIPF1	175148244	1.000000	0.71417	0.253000	0.24343	0.950000	0.60333	5.024000	0.64090	2.464000	0.83262	0.462000	0.41574	CCA	-	NULL		0.607	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	protein_coding	OTTHUMT00000255453.1	G	NM_003387	-		175439998	-1	no_errors	ENST00000272746	ensembl	human	known	74_37	missense	SNP	0.994	A	A	175439998	G	A	175439998	3	1	13	1	0	0	0	0	1	0	0	0	17374	1174	41	2	1239	2	WIPF1	2	175439998	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	50440194	175439998	67759375	8	940											
DIS3L2	129563	genome.wustl.edu	37	chr2	233127949	233127949	+	Missense_Mutation	SNP	C	C	G													tggtttggccggaccatcatCcgctcctgcaccaaacttag							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:233127949C>G	ENST00000409307.1	+	12	1458	c.1458C>G	c.(1456-1458)atC>atG	p.I486M	DIS3L2_ENST00000273009.6_Missense_Mutation_p.I486M|DIS3L2_ENST00000325385.7_Missense_Mutation_p.I486M					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGACCATCATCCGCTCCTGCA	0.483																																																	0								ENSG00000144535						63	66	65					2																	233127949		1952	4158	6110	DIS3L2	SO:0001583	missense	0			-	HGNC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1458C>G	2.37:g.233127949C>G	ENSP00000386799:p.Ile486Met	Somatic	0	33	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50		Missense_Mutation	SNP							NULL	p.I486M	ENST00000409307.1	37	c.1458	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894942	0.52121	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.04	-0.172	0.13327	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66388	-0.5936	10	0.87932	D	0	-15.3324	10.3828	0.44121	0.0:0.6396:0.0:0.3604	.	486	Q8IYB7	DI3L2_HUMAN	M	486;486;486;486;486;121	ENSP00000273009:I486M;ENSP00000315569:I486M;ENSP00000386799:I486M;ENSP00000415419:I121M	ENSP00000273009:I486M	I	+	3	3	DIS3L2	232836193	0.945000	0.32115	0.973000	0.42090	0.724000	0.41520	1.153000	0.31676	-0.023000	0.13963	0.650000	0.86243	ATC	-	NULL		0.483	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	protein_coding	OTTHUMT00000330988.1	C	NM_152383	-		233127949	1	no_errors	ENST00000325385	ensembl	human	known	74_37	missense	SNP	0.957	G	G	233127949	C	G	233127949	3	3	13	1	0	0	0	0	1	0	0	0	4539	845	30	4	1504	4	DIS3L2	2	233127949	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	57687951	233127949	10071424	9	941	8	2									
DIS3L2	129563	genome.wustl.edu	37	chr2	233127950	233127950	+	Missense_Mutation	SNP	C	C	T													ggtttggccggaccatcatcCgctcctgcaccaaacttagc					rs376340398		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:233127950C>T	ENST00000409307.1	+	12	1459	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	DIS3L2_ENST00000273009.6_Missense_Mutation_p.R487C|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R487C					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GACCATCATCCGCTCCTGCAC	0.478																																																	0								ENSG00000144535	C	CYS/ARG	0,3904		0,0,1952	64	66	65		1459	0	1	2		65	1,8315		0,1,4157	no	missense	DIS3L2	NM_152383.4	180	0,1,6109	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging	487/886	233127950	1,12219	1952	4158	6110	DIS3L2	SO:0001583	missense	0			-	HGNC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1459C>T	2.37:g.233127950C>T	ENSP00000386799:p.Arg487Cys	Somatic	0	34	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46		Missense_Mutation	SNP							NULL	p.R487C	ENST00000409307.1	37	c.1459	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331605	0.24167	0.0	1.2E-4	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.04	0.0283	0.14158	Ribonuclease II/R (2);	0.501057	0.25045	N	0.033564	T	0.37571	0.1008	L	0.50847	1.595	0.80722	D	1	B	0.31153	0.31	B	0.36418	0.224	T	0.23332	-1.0191	10	0.44086	T	0.13	-0.2189	11.7101	0.51620	0.0:0.5891:0.0:0.4109	.	487	Q8IYB7	DI3L2_HUMAN	C	487;487;487;487;487;122	ENSP00000273009:R487C;ENSP00000315569:R487C;ENSP00000386799:R487C;ENSP00000415419:R122C	ENSP00000273009:R487C	R	+	1	0	DIS3L2	232836194	0.889000	0.30405	0.972000	0.41901	0.656000	0.38851	0.076000	0.14712	0.009000	0.14813	-1.929000	0.00512	CGC	-	NULL		0.478	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	protein_coding	OTTHUMT00000330988.1	C	NM_152383	-		233127950	1	no_errors	ENST00000325385	ensembl	human	known	74_37	missense	SNP	0.946	T	T	233127950	C	T	233127950	3	4	13	1	0	0	0	0	1	0	0	0	4539	652	23	1	1505	1	DIS3L2	2	233127950	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	1	233127950	10071423	10	942	8	2									
THAP4	51078	genome.wustl.edu	37	chr2	242573427	242573427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagaaatgaatacttagtggGagtccagttatccctctgaa	10	7	1	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:242573427G>T	ENST00000407315.1	-	2	576	c.145C>A	c.(145-147)Ccc>Acc	p.P49T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	49							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TACTTAGTGGGAGTCCAGTTA	0.463																																																	0								ENSG00000176946						90	102	98					2																	242573427		2203	4296	6499	THAP4	SO:0001583	missense	0			-	HGNC	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.145C>A	2.37:g.242573427G>T	ENSP00000385006:p.Pro49Thr	Somatic	0	122	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP							pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P49T	ENST00000407315.1	37	c.145	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898568	0.72639	.	.	ENSG00000176946	ENST00000407315	D	0.96427	-4.01	4.93	4.93	0.64822	Zinc finger, C2CH-type (4);	0.067900	0.56097	D	0.000023	D	0.98523	0.9507	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99686	1.1000	10	0.87932	D	0	-32.1135	16.7001	0.85346	0.0:0.0:1.0:0.0	.	49	Q8WY91	THAP4_HUMAN	T	49	ENSP00000385006:P49T	ENSP00000385006:P49T	P	-	1	0	THAP4	242222100	1.000000	0.71417	0.919000	0.36401	0.993000	0.82548	5.668000	0.68074	2.431000	0.82371	0.655000	0.94253	CCC	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.463	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	protein_coding	OTTHUMT00000257267.3	G	NM_015963	-		242573427	-1	no_errors	ENST00000407315	ensembl	human	known	74_37	missense	SNP	0.994	T	T	242573427	G	T	242573427	3	4	13	1	0	0	0	0	1	0	0	0	15853	1174	41	3	1616	3	THAP4	2	242573427	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	9445477	242573427	625946	11	943											
KIAA2018	205717	genome.wustl.edu	37	chr3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T													aaagagatgatttctgagggINStttttttttttagcaagatc					rs78597857		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)						ENSG00000176542																																			KIAA2018	SO:0001589	frameshift_variant	0				HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs	Somatic	0	21	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			-	NULL		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	-	NM_001009899			113377482	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	INS	0.174:0.827	T	T	113377482	-	T	113377481	7	5	13	1	0	1	1	0	0	0	0	0	8270	1252	44	0	3693	0	KIAA2018	3	113377481	Frame_Shift_Ins	INS	-	TCGA-3B-A9HY-01A-11D-A38Z-09		113377481	84644949	12	944											
TFRC	7037	genome.wustl.edu	37	chr3	195785483	195785483	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctgatatagaaattgCccagtaaccggatgcttcac	8	11	1	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr3:195785483C>A	ENST00000360110.4	-	15	1726	c.1557G>T	c.(1555-1557)ggG>ggT	p.G519G	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.G237G|TFRC_ENST00000420415.1_Silent_p.G438G|TFRC_ENST00000392396.3_Silent_p.G519G|TFRC_ENST00000465288.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	519					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ATAGAAATTGCCCAGTAACCG	0.348			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0								ENSG00000072274						132	130	131					3																	195785483		2203	4300	6503	TFRC	SO:0001819	synonymous_variant	0			-	HGNC	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1557G>T	3.37:g.195785483C>A		Somatic	0	83	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	53	39.08	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP							pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.G519	ENST00000360110.4	37	c.1557	CCDS3312.1	3																																																																																			-	pfam_Peptidase_M28		0.348	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	protein_coding	OTTHUMT00000341346.1	C		-		195785483	-1	no_errors	ENST00000360110	ensembl	human	known	74_37	silent	SNP	0.000	A	A	195785483	C	A	195785483	2	1	13	1	0	0	0	0	0	0	0	1	15819	726	26	3		3	TFRC	3	195785483	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	82408002	195785483	2236947	13	945											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6066655	6066655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctgtctgtcctgtcTgtgttgtaggatgtttcgga	15	7	2	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr4:6066655T>C	ENST00000282924.5	-	9	1868	c.1383A>G	c.(1381-1383)acA>acG	p.T461T	JAKMIP1_ENST00000409021.3_Silent_p.T461T|JAKMIP1_ENST00000409371.3_Silent_p.T276T|JAKMIP1_ENST00000410077.2_Silent_p.T296T|JAKMIP1_ENST00000409831.1_Silent_p.T461T|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	461	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTCCTGTCTGTGTTGTAGG	0.512																																																	0								ENSG00000152969						191	160	171					4																	6066655		2203	4300	6503	JAKMIP1	SO:0001819	synonymous_variant	0			-	HGNC	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1383A>G	4.37:g.6066655T>C		Somatic	0	91	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	48	34.25	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP							NULL	p.T461	ENST00000282924.5	37	c.1383	CCDS3385.1	4																																																																																			-	NULL		0.512	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	protein_coding	OTTHUMT00000246816.2	T	NM_144720	-		6066655	-1	no_errors	ENST00000409021	ensembl	human	known	74_37	silent	SNP	0.107	C	C	6066655	T	C	6066655	2	2	13	1	0	0	0	0	0	0	0	1	7942	1567	55	5		5	JAKMIP1	4	6066655	Silent	SNP	T	TCGA-3B-A9HY-01A-11D-A38Z-09		6066655	185087621	14	946											
CENPE	1062	genome.wustl.edu	37	chr4	104084678	104084678	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgcatgcttaactaaattCtttaagttcgaaatttcatg	5	7	3	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr4:104084678C>T	ENST00000265148.3	-	17	1769	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	560					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAACTAAATTCTTTAAGTTCG	0.299																																																	0								ENSG00000138778						64	60	62					4																	104084678		2202	4291	6493	CENPE	SO:0001819	synonymous_variant	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1680G>A	4.37:g.104084678C>T		Somatic	0	43	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	A6NKY9|A8K2U7|Q4LE75	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K560	ENST00000265148.3	37	c.1680	CCDS34042.1	4																																																																																			-	NULL		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		C		-		104084678	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104084678	C	T	104084678	2	4	13	1	0	0	0	0	0	0	0	1	3232	912	32	2		2	CENPE	4	104084678	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	98018023	104084678	87069598	15	947											
PCDHA4	56144	genome.wustl.edu	37	chr5	140186934	140186934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcgcaggacctgggactGgagctggcggagctggtgcc	18	11	0	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140186934G>A	ENST00000530339.1	+	1	162	c.162G>A	c.(160-162)ctG>ctA	p.L54L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.L54L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.L54L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	54	Cadherin 1. {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)			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)			ACCTGGGACTGGAGCTGGCGG	0.637																																																	0								ENSG00000204967						49	57	54					5																	140186934		2202	4299	6501	PCDHA4	SO:0001819	synonymous_variant	0			-	HGNC	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.162G>A	5.37:g.140186934G>A		Somatic	1	119	0.83		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	49	37.18	O75285|Q2M253	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L54	ENST00000530339.1	37	c.162	CCDS54916.1	5																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140186934	1	no_errors	ENST00000530339	ensembl	human	known	74_37	silent	SNP	1.000	A	A	140186934	G	A	140186934	2	1	13	1	0	0	0	0	0	0	0	1	11528	1335	47	2		2	PCDHA4	5	140186934	Silent	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09		140186934	40728326	16	948			1	7		5	5	1550	G		4.924017e-12
PCDHA4	56144	genome.wustl.edu	37	chr5	140187574	140187574	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taattaaacttaacgcctcaGatttagacgaaggattgaat	7	6	1	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140187574G>C	ENST00000530339.1	+	1	802	c.802G>C	c.(802-804)Gat>Cat	p.D268H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D268H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D268H	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	268	Cadherin 3. {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)			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)			TAACGCCTCAGATTTAGACGA	0.358																																																	0								ENSG00000204967						60	64	63					5																	140187574		2203	4300	6503	PCDHA4	SO:0001583	missense	0			-	HGNC	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.802G>C	5.37:g.140187574G>C	ENSP00000435300:p.Asp268His	Somatic	0	74	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	23	47.73	O75285|Q2M253	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D268H	ENST00000530339.1	37	c.802	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	19.29	3.798540	0.70567	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.75154	-0.91;-0.91;-0.91	4.34	4.34	0.51931	Cadherin (5);Cadherin-like (1);	0.000000	0.41938	U	0.000793	D	0.92502	0.7619	H	0.99590	4.645	0.48288	D	0.999628	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	.	17.2044	0.86914	0.0:0.0:1.0:0.0	.	268;268;268	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	268	ENSP00000423470:D268H;ENSP00000349344:D268H;ENSP00000435300:D268H	ENSP00000349344:D268H	D	+	1	0	PCDHA4	140167758	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	9.420000	0.97426	2.137000	0.66172	0.467000	0.42956	GAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.358	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140187574	1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140187574	G	C	140187574	3	2	13	1	0	0	0	0	1	0	0	0	11528	942	33	4	804	4	PCDHA4	5	140187574	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	640	140187574	40727686	17	949			1	7		5	5	1550	G		4.924017e-12
PCDHA4	56144	genome.wustl.edu	37	chr5	140187703	140187703	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaagggatatattgactttGaagaaagcaaatcctatgaa	8	4	0	4			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140187703G>A	ENST00000530339.1	+	1	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E311K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E311K	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	311	Cadherin 3. {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)			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)			TATTGACTTTGAAGAAAGCAA	0.343																																																	0								ENSG00000204967						97	104	102					5																	140187703		2203	4300	6503	PCDHA4	SO:0001583	missense	0			-	HGNC	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.931G>A	5.37:g.140187703G>A	ENSP00000435300:p.Glu311Lys	Somatic	0	133	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	31	49.18	O75285|Q2M253	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E311K	ENST00000530339.1	37	c.931	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	24.2	4.510268	0.85282	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.72394	-0.65;-0.65;-0.65	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000818	D	0.89494	0.6731	H	0.97051	3.93	0.42720	D	0.993677	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.93672	0.6991	10	0.87932	D	0	.	17.2044	0.86914	0.0:0.0:1.0:0.0	.	311;311;311	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	K	311	ENSP00000423470:E311K;ENSP00000349344:E311K;ENSP00000435300:E311K	ENSP00000349344:E311K	E	+	1	0	PCDHA4	140167887	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.599000	0.82757	2.137000	0.66172	0.467000	0.42956	GAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.343	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140187703	1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140187703	G	A	140187703	3	1	13	1	0	0	0	0	1	0	0	0	11528	1291	45	2	933	2	PCDHA4	5	140187703	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	129	140187703	40727557	18	950			1	7		5	5	1550	G		4.924017e-12
PCDHA4	56144	genome.wustl.edu	37	chr5	140187742	140187742	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaattattgtagagggcattGataagggacagctcccactt	10	7	0	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140187742G>C	ENST00000530339.1	+	1	970	c.970G>C	c.(970-972)Gat>Cat	p.D324H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D324H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D324H	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	324	Cadherin 3. {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)			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)			AGAGGGCATTGATAAGGGACA	0.358																																																	0								ENSG00000204967						115	122	120					5																	140187742		2203	4300	6503	PCDHA4	SO:0001583	missense	0			-	HGNC	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.970G>C	5.37:g.140187742G>C	ENSP00000435300:p.Asp324His	Somatic	0	137	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	31	48.33	O75285|Q2M253	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D324H	ENST00000530339.1	37	c.970	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671550	0.67928	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.80824	-1.42;-1.42;-1.42	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000809	D	0.94515	0.8234	H	0.99555	4.625	0.45594	D	0.998539	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97432	1.0016	10	0.87932	D	0	.	17.2044	0.86914	0.0:0.0:1.0:0.0	.	324;324;324	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	324	ENSP00000423470:D324H;ENSP00000349344:D324H;ENSP00000435300:D324H	ENSP00000349344:D324H	D	+	1	0	PCDHA4	140167926	1.000000	0.71417	0.681000	0.30009	0.974000	0.67602	9.420000	0.97426	2.137000	0.66172	0.467000	0.42956	GAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.358	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140187742	1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140187742	G	C	140187742	3	2	13	1	0	0	0	0	1	0	0	0	11528	1290	45	4	972	4	PCDHA4	5	140187742	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	39	140187742	40727518	19	951			1	7		5	5	1550	G		4.924017e-12
PCDHA4	56144	genome.wustl.edu	37	chr5	140188483	140188483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactgctagcgcctcgggcgGgtggcactggtggcgcagtg	18	12	0	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140188483G>C	ENST00000530339.1	+	1	1711	c.1711G>C	c.(1711-1713)Ggt>Cgt	p.G571R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G571R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G571R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	571					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)			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)			GCCTCGGGCGGGTGGCACTGG	0.672																																																	0								ENSG00000204967						82	78	80					5																	140188483		2202	4298	6500	PCDHA4	SO:0001583	missense	0			-	HGNC	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.1711G>C	5.37:g.140188483G>C	ENSP00000435300:p.Gly571Arg	Somatic	0	110	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	34	40.35	O75285|Q2M253	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G571R	ENST00000530339.1	37	c.1711	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	2.450	-0.326588	0.05350	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51817	0.73;0.69;0.7	3.76	1.9	0.25705	Cadherin-like (1);	.	.	.	.	T	0.19685	0.0473	N	0.03903	-0.33	0.09310	N	1	B;B;B	0.17852	0.005;0.003;0.024	B;B;B	0.20577	0.03;0.006;0.027	T	0.22487	-1.0215	9	0.19590	T	0.45	.	2.8694	0.05611	0.1065:0.1792:0.5305:0.1838	.	571;571;571	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	R	571	ENSP00000423470:G571R;ENSP00000349344:G571R;ENSP00000435300:G571R	ENSP00000349344:G571R	G	+	1	0	PCDHA4	140168667	0.000000	0.05858	0.016000	0.15963	0.134000	0.20937	0.225000	0.17757	0.340000	0.23745	0.484000	0.47621	GGT	-	superfamily_Cadherin-like		0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140188483	1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	SNP	0.007	C	C	140188483	G	C	140188483	3	2	13	1	0	0	0	0	1	0	0	0	11528	1232	43	4	1713	4	PCDHA4	5	140188483	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	741	140188483	40726777	20	952			1	7		5	5	1550	G		4.924017e-12
WWC1	23286	genome.wustl.edu	37	chr5	167719216	167719216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcgcgcgacttcgacgGcaaggtctactacatagacc	13	12	1	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:167719216G>A	ENST00000265293.4	+	1	561	c.59G>A	c.(58-60)gGc>gAc	p.G20D	WWC1_ENST00000521089.1_Missense_Mutation_p.G20D	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	20	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACTTCGACGGCAAGGTCTAC	0.711																																																	0								ENSG00000113645						48	37	40					5																	167719216		2178	4283	6461	WWC1	SO:0001583	missense	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.59G>A	5.37:g.167719216G>A	ENSP00000265293:p.Gly20Asp	Somatic	0	30	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G20D	ENST00000265293.4	37	c.59	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748510	0.89753	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	D;D	0.94862	-3.54;-3.54	4.09	4.09	0.47781	WW/Rsp5/WWP (6);	0.000000	0.64402	D	0.000003	D	0.97598	0.9213	H	0.94183	3.505	0.80722	D	1	P;D	0.56968	0.675;0.978	B;P	0.59825	0.391;0.864	D	0.99016	1.0816	10	0.87932	D	0	.	16.0937	0.81106	0.0:0.0:1.0:0.0	.	20;20	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	D	20	ENSP00000265293:G20D;ENSP00000427772:G20D	ENSP00000265293:G20D	G	+	2	0	WWC1	167651794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.287000	0.89918	2.121000	0.65114	0.491000	0.48974	GGC	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom		0.711	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	G	NM_015238	-		167719216	1	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167719216	G	A	167719216	3	1	13	1	0	0	0	0	1	0	0	0	17418	1203	42	2	61	2	WWC1	5	167719216	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	27530733	167719216	13196044	21	953											
NHLRC1	378884	genome.wustl.edu	37	chr6	18121653	18121653	+	Frame_Shift_Del	DEL	C	C	-													ggacccaccccagcccatcaCccccagtcaactttatagac							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:18121653delC	ENST00000340650.3	-	1	1198	c.1185delG	c.(1183-1185)gggfs	p.G395fs		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	395					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CAGCCCATCACCCCCAGTCAA	0.458																																																	0								ENSG00000187566			0,4264		0,0,2132	36	40	39			-2.9	0	6		39	5,8249		2,1,4124	no	frameshift	NHLRC1	NM_198586.2		2,1,6256	A1A1,A1R,RR		0.0606,0.0,0.0399			18121653	5,12513	2203	4300	6503	NHLRC1	SO:0001589	frameshift_variant	0				HGNC	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"epilepsy, progressive myoclonus type 2B"	608072	"NHL repeat containing 1"			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.1185delG	6.37:g.18121653delC	ENSP00000345464:p.Gly395fs	Somatic	0	55	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q3SYB1|Q5VUK7|Q6IMH1	Frame_Shift_Del	DEL							smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING	p.*396fs	ENST00000340650.3	37	c.1185	CCDS4542.1	6																																																																																			-	NULL		0.458	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC1	protein_coding	OTTHUMT00000039958.1	C				18121653	-1	no_errors	ENST00000340650	ensembl	human	known	74_37	frame_shift_del	DEL	0.009	-	-	18121653	C	-	18121653	7	5	13	1	0	1	0	1	0	0	0	0	10407	494	18	0	6	0	NHLRC1	6	18121653	Frame_Shift_Del	DEL	C	TCGA-3B-A9HY-01A-11D-A38Z-09		18121653	152993414	22	954											
TRIM27	5987	genome.wustl.edu	37	chr6	28871977	28871977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcagactgaagtagggcCggacaggcccacaaaaggta	12	10	1	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:28871977C>T	ENST00000377199.3	-	8	1768	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	471	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAAGTAGGGCCGGACAGGCCC	0.502			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0								ENSG00000204713						117	131	126					6																	28871977		1511	2709	4220	TRIM27	SO:0001583	missense	0			-	HGNC	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1412G>A	6.37:g.28871977C>T	ENSP00000366404:p.Arg471Gln	Somatic	0	35	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R471Q	ENST00000377199.3	37	c.1412	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711555	0.48517	.	.	ENSG00000204713	ENST00000377199	T	0.69306	-0.39	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49305	D	0.000157	T	0.69160	0.3080	L	0.61036	1.89	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.66101	-0.6007	10	0.29301	T	0.29	.	12.1025	0.53792	0.0:0.8259:0.1741:0.0	.	471	P14373	TRI27_HUMAN	Q	471	ENSP00000366404:R471Q	ENSP00000366404:R471Q	R	-	2	0	TRIM27	28979956	0.710000	0.27896	1.000000	0.80357	0.998000	0.95712	0.485000	0.22324	2.633000	0.89246	0.655000	0.94253	CGG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.502	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	protein_coding	OTTHUMT00000076442.2	C	NM_030950	-		28871977	-1	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28871977	C	T	28871977	3	4	13	1	0	0	0	0	1	0	0	0	16508	652	23	1	133	1	TRIM27	6	28871977	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	10750324	28871977	142243090	23	955											
DNAH8	1769	genome.wustl.edu	37	chr6	38704933	38704933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttctaccagctgttcttGcaacaaacaactggggtgct	8	10	2	0	rs76249323		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:38704933G>A	ENST00000359357.3	+	4	456	c.202G>A	c.(202-204)Gca>Aca	p.A68T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A68T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A285T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	68					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCTGTTCTTGCAACAAACAA	0.393																																																	0								ENSG00000124721						100	103	102					6																	38704933		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.202G>A	6.37:g.38704933G>A	ENSP00000352312:p.Ala68Thr	Somatic	0	49	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A68T	ENST00000359357.3	37	c.202		6	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124960	0.56613	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25579	1.81;1.82;1.79	5.2	4.31	0.51392	.	0.145128	0.43260	D	0.000586	T	0.10809	0.0264	L	0.51422	1.61	0.39711	D	0.971336	B	0.10296	0.003	B	0.10450	0.005	T	0.04191	-1.0970	10	0.12103	T	0.63	.	12.9526	0.58409	0.08:0.0:0.92:0.0	.	68	Q96JB1	DYH8_HUMAN	T	273;273;68;68	ENSP00000333363:A273T;ENSP00000352312:A68T;ENSP00000402294:A68T	ENSP00000333363:A273T	A	+	1	0	DNAH8	38812911	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.867000	0.48428	2.565000	0.86533	0.591000	0.81541	GCA	-	NULL		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38704933	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38704933	G	A	38704933	3	1	13	1	0	0	0	0	1	0	0	0	4609	1319	46	2	208	2	DNAH8	6	38704933	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	9832956	38704933	132410134	24	956											
TTK	7272	genome.wustl.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																																	6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)						ENSG00000112742																																			TTK	SO:0001589	frameshift_variant	0				HGNC		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs	Somatic	0	34	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R854fs	ENST00000369798.2	37	c.2551_2552	CCDS4993.1	6																																																																																			-	NULL		0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	protein_coding	OTTHUMT00000041316.2	-				80751897	1	no_errors	ENST00000369798	ensembl	human	known	74_37	frame_shift_ins	INS	0.178:0.102	A	A	80751897	-	A	80751896	7	5	13	1	0	1	1	0	0	0	0	0	16727	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-3B-A9HY-01A-11D-A38Z-09	42046963	80751896	90363171	25	957											
HS3ST5	222537	genome.wustl.edu	37	chr6	114379226	114379226	+	Missense_Mutation	SNP	T	T	G													ggtcatggaggcgaacctgcTccttggaagcgttgcccttc					rs370563140		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:114379226T>G	ENST00000312719.5	-	5	1424	c.236A>C	c.(235-237)gAg>gCg	p.E79A	HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79A|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCGAACCTGCTCCTTGGAAGC	0.597																																																	0								ENSG00000249853	T	ALA/GLU	0,4406		0,0,2203	62	57	59		236	5.6	1	6		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	HS3ST5	NM_153612.3	107	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	benign	79/347	114379226	1,13005	2203	4300	6503	HS3ST5	SO:0001583	missense	0			-	HGNC	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.236A>C	6.37:g.114379226T>G	ENSP00000427888:p.Glu79Ala	Somatic	0	21	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E79A	ENST00000312719.5	37	c.236	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115604	0.37339	0.0	1.16E-4	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.284356	0.39210	N	0.001425	T	0.19644	0.0472	N	0.25647	0.755	0.53005	D	0.99996	B	0.15141	0.012	B	0.15870	0.014	T	0.03545	-1.1026	10	0.41790	T	0.15	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	79	Q8IZT8	HS3S5_HUMAN	A	79	ENSP00000427888:E79A;ENSP00000440332:E79A	ENSP00000427888:E79A	E	-	2	0	HS3ST5	114485919	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.008000	0.70739	2.263000	0.75096	0.533000	0.62120	GAG	-	superfamily_P-loop_NTPase		0.597	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	protein_coding	OTTHUMT00000041911.2	T	NM_153612	-		114379226	-1	no_errors	ENST00000312719	ensembl	human	known	74_37	missense	SNP	1.000	G	G	114379226	T	G	114379226	3	3	13	1	0	0	0	0	1	0	0	0	7370	1551	54	5	808	5	HS3ST5	6	114379226	Missense_Mutation	SNP	T	TCGA-3B-A9HY-01A-11D-A38Z-09	33627330	114379226	56735841	26	958	9	2									
HS3ST5	222537	genome.wustl.edu	37	chr6	114379227	114379227	+	Missense_Mutation	SNP	C	C	T													gtcatggaggcgaacctgctCcttggaagcgttgcccttcc							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:114379227C>T	ENST00000312719.5	-	5	1423	c.235G>A	c.(235-237)Gag>Aag	p.E79K	HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79K|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGAACCTGCTCCTTGGAAGCG	0.597																																																	0								ENSG00000249853						62	57	59					6																	114379227		2203	4300	6503	HS3ST5	SO:0001583	missense	0			-	HGNC	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.235G>A	6.37:g.114379227C>T	ENSP00000427888:p.Glu79Lys	Somatic	0	21	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E79K	ENST00000312719.5	37	c.235	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129295	0.37630	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.44083	0.93;0.93	5.62	4.76	0.60689	.	0.284356	0.39210	N	0.001425	T	0.23330	0.0564	L	0.46157	1.445	0.49483	D	0.999793	B	0.15141	0.012	B	0.14023	0.01	T	0.06320	-1.0833	10	0.39692	T	0.17	.	15.1642	0.72807	0.0:0.9321:0.0:0.0679	.	79	Q8IZT8	HS3S5_HUMAN	K	79	ENSP00000427888:E79K;ENSP00000440332:E79K	ENSP00000427888:E79K	E	-	1	0	HS3ST5	114485920	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.529000	0.67135	1.525000	0.49052	-0.123000	0.14984	GAG	-	superfamily_P-loop_NTPase		0.597	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	protein_coding	OTTHUMT00000041911.2	C	NM_153612	-		114379227	-1	no_errors	ENST00000312719	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114379227	C	T	114379227	3	4	13	1	0	0	0	0	1	0	0	0	7370	864	30	2	809	2	HS3ST5	6	114379227	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	1	114379227	56735840	27	959	9	2									
TSPYL4	23270	genome.wustl.edu	37	chr6	116574621	116574621	+	Frame_Shift_Del	DEL	T	T	-													ctttcacccctcctgccaccTttttttccttctgcactacc							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:116574621delT	ENST00000420283.1	-	1	640	c.551delA	c.(550-552)aagfs	p.K184fs	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	184					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		tcctgccacctttttttcctt	0.537																																																	0								ENSG00000187189			10,3196		2,6,1595	37	37	37			4.2	0.1	6		38	38,6528		10,18,3255	no	frameshift	TSPYL4	NM_021648.4		12,24,4850	A1A1,A1R,RR		0.5787,0.3119,0.4912			116574621	48,9724	1725	3533	5258	TSPYL4	SO:0001589	frameshift_variant	0				HGNC		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.551delA	6.37:g.116574621delT	ENSP00000410943:p.Lys184fs	Somatic	0	29	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B4DYQ2|O94828|Q96GW8	Frame_Shift_Del	DEL							pfam_NAP_family	p.K184fs	ENST00000420283.1	37	c.551	CCDS5106.1	6																																																																																			-	NULL		0.537	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	protein_coding	OTTHUMT00000041934.2	T				116574621	-1	no_errors	ENST00000420283	ensembl	human	known	74_37	frame_shift_del	DEL	0.135	-	-	116574621	T	-	116574621	7	5	13	1	0	1	0	1	0	0	0	0	16668	1609	56	0	697	0	TSPYL4	6	116574621	Frame_Shift_Del	DEL	T	TCGA-3B-A9HY-01A-11D-A38Z-09	2195394	116574621	54540446	28	960											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760325	154760327	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgaatctgctgtTgctgctgctgctggagcagg							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr7:154760325_154760327delTGC	ENST00000404141.1	-	7	1738_1740	c.1584_1586delGCA	c.(1582-1587)cagcaa>caa	p.528_529QQ>Q	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_In_Frame_Del_p.528_529QQ>Q			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	528	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		aatctgctgttgctgctgctgct	0.611																																																	0								ENSG00000157212																																			PAXIP1	SO:0001651	inframe_deletion	0				HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1584_1586delGCA	7.37:g.154760334_154760336delTGC	ENSP00000384048:p.Gln531del	Somatic	0	37	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q531in_frame_del	ENST00000404141.1	37	c.1586_1584	CCDS47753.1	7																																																																																			-	NULL		0.611	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	TGC	NM_007349			154760327	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.993	-	-	154760327	TGC	-	154760325	7	5	13	1	0	1	0	1	0	0	0	0	11489	1812	63	0	1683	0	PAXIP1	7	154760325	In_Frame_Del	DEL	TGC	TCGA-3B-A9HY-01A-11D-A38Z-09		154760325	4378338	29	961											
PIWIL2	55124	genome.wustl.edu	37	chr8	22145080	22145080	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcatgaggttcggcatgttGaaggaccatcaagctgtcac	12	9	2	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:22145080G>A	ENST00000454009.2	+	7	1292	c.783G>A	c.(781-783)ttG>ttA	p.L261L	PIWIL2_ENST00000521356.1_Silent_p.L261L|PIWIL2_ENST00000356766.6_Silent_p.L261L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	261					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCGGCATGTTGAAGGACCATC	0.443											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000197181						176	139	152					8																	22145080		2203	4300	6503	PIWIL2	SO:0001819	synonymous_variant	0			-	HGNC	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.783G>A	8.37:g.22145080G>A		Somatic	0	60	0	753	0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP							pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.L261	ENST00000454009.2	37	c.783	CCDS6029.1	8																																																																																			-	superfamily_PAZ_dom		0.443	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	protein_coding	OTTHUMT00000375438.1	G		-		22145080	1	no_errors	ENST00000356766	ensembl	human	known	74_37	silent	SNP	1.000	A	A	22145080	G	A	22145080	2	1	13	1	0	0	0	0	0	0	0	1	11960	1281	45	2		2	PIWIL2	8	22145080	Silent	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09		22145080	124218942	30	962											
PDLIM2	64236	genome.wustl.edu	37	chr8	22451416	22451416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccaccctcagctctcGggcctgagcccgccatgccc	9	21	2	1	rs150050587		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:22451416G>A	ENST00000397760.4	+	10	1452	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PDLIM2_ENST00000397761.2_Missense_Mutation_p.R351Q|PDLIM2_ENST00000339162.7_3'UTR|PDLIM2_ENST00000448520.1_3'UTR|AC037459.4_ENST00000430850.2_Intron|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R601Q|PDLIM2_ENST00000265810.4_Intron|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R351Q|PDLIM2_ENST00000409141.1_3'UTR			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	351						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTCAGCTCTCGGGCCTGAGCC	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		14934	0		0	False		,,,				2504	0																0								ENSG00000120913						29	22	25					8																	22451416		1323	2303	3626	PDLIM2	SO:0001583	missense	0			GMAF=0.0005	HGNC	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.1052G>A	8.37:g.22451416G>A	ENSP00000380867:p.Arg351Gln	Somatic	0	55	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP							pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R601Q	ENST00000397760.4	37	c.1802		8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.508	-0.100414	0.06967	.	.	ENSG00000120913	ENST00000308354;ENST00000397760;ENST00000397761;ENST00000409417	T;T;T;T	0.13089	3.35;2.62;2.62;2.62	4.43	-2.34	0.06704	.	1.756780	0.03845	N	0.271389	T	0.11537	0.0281	L	0.29908	0.895	0.20563	N	0.999884	B	0.06786	0.001	B	0.01281	0.0	T	0.41752	-0.9491	10	0.59425	D	0.04	.	9.1947	0.37220	0.6717:0.0:0.3283:0.0	.	351	Q96JY6	PDLI2_HUMAN	Q	601;351;351;351	ENSP00000312634:R601Q;ENSP00000380867:R351Q;ENSP00000380868:R351Q;ENSP00000387084:R351Q	ENSP00000312634:R601Q	R	+	2	0	PDLIM2	22507361	0.295000	0.24389	0.070000	0.20053	0.191000	0.23601	0.993000	0.29680	-0.482000	0.06782	0.491000	0.48974	CGG	-	NULL		0.622	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	protein_coding	OTTHUMT00000334167.1	G		rs150050587		22451416	1	no_errors	ENST00000308354	ensembl	human	known	74_37	missense	SNP	0.192	A	A	22451416	G	A	22451416	3	1	13	1	0	0	0	0	1	0	0	0	11682	1116	39	1	1086	1	PDLIM2	8	22451416	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	306336	22451416	123912606	31	963											
RP1	6101	genome.wustl.edu	37	chr8	55540104	55540104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaacattcagagtgttcCtaagtgcagtgaaaatgaaa	10	6	2	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:55540104C>T	ENST00000220676.1	+	4	3810	c.3662C>T	c.(3661-3663)cCt>cTt	p.P1221L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1221					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)			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)			CAGAGTGTTCCTAAGTGCAGT	0.448																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						125	122	123					8																	55540104		2203	4300	6503	RP1	SO:0001583	missense	0			-	HGNC	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.3662C>T	8.37:g.55540104C>T	ENSP00000220676:p.Pro1221Leu	Somatic	0	16	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33		Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.P1221L	ENST00000220676.1	37	c.3662	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	7.143	0.582300	0.13749	.	.	ENSG00000104237	ENST00000220676	T	0.23147	1.92	5.38	3.46	0.39613	.	0.788628	0.11347	N	0.573417	T	0.18759	0.0450	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.19063	-1.0317	10	0.87932	D	0	.	7.4285	0.27113	0.3027:0.6172:0.0:0.0801	.	1221	P56715	RP1_HUMAN	L	1221	ENSP00000220676:P1221L	ENSP00000220676:P1221L	P	+	2	0	RP1	55702657	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	0.001000	0.13038	1.206000	0.43276	0.655000	0.94253	CCT	-	NULL		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	C	NM_006269	-		55540104	1	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	SNP	0.001	T	T	55540104	C	T	55540104	3	4	13	1	0	0	0	0	1	0	0	0	13540	681	24	2	3672	2	RP1	8	55540104	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	33088688	55540104	90823918	32	964											
LRP12	29967	genome.wustl.edu	37	chr8	105510058	105510058	+	Missense_Mutation	SNP	C	C	T													ggtcaaggcagtcaatgttcCcatcacattttaaagattcg							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:105510058C>T	ENST00000276654.5	-	5	830	c.722G>A	c.(721-723)gGg>gAg	p.G241E	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.G222E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	241	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTCAATGTTCCCATCACATTT	0.413																																																	0								ENSG00000147650						98	96	97					8																	105510058		2203	4300	6503	LRP12	SO:0001583	missense	0			-	HGNC	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.722G>A	8.37:g.105510058C>T	ENSP00000276654:p.Gly241Glu	Somatic	0	32	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22	A8K137|B4DRQ2	Missense_Mutation	SNP							pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.G222E	ENST00000276654.5	37	c.665	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385989	0.82902	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.96716	-4.1;-4.1	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98834	1.0752	10	0.72032	D	0.01	-18.9229	19.7554	0.96287	0.0:1.0:0.0:0.0	.	222;241	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	222;241	ENSP00000399148:G222E;ENSP00000276654:G241E	ENSP00000276654:G241E	G	-	2	0	LRP12	105579234	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.456000	0.80751	2.665000	0.90641	0.563000	0.77884	GGG	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	protein_coding	OTTHUMT00000380821.1	C	NM_013437	-		105510058	-1	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105510058	C	T	105510058	3	4	13	1	0	0	0	0	1	0	0	0	8956	623	22	2	1869	2	LRP12	8	105510058	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	49969954	105510058	40853964	33	965	10	2									
LRP12	29967	genome.wustl.edu	37	chr8	105510059	105510059	+	Missense_Mutation	SNP	C	C	T													gtcaaggcagtcaatgttccCatcacattttaaagattcgg							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:105510059C>T	ENST00000276654.5	-	5	829	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.G222R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	241	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAATGTTCCCATCACATTTT	0.413																																																	0								ENSG00000147650						99	97	97					8																	105510059		2203	4300	6503	LRP12	SO:0001583	missense	0			-	HGNC	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.721G>A	8.37:g.105510059C>T	ENSP00000276654:p.Gly241Arg	Somatic	0	31	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	19	48.65	A8K137|B4DRQ2	Missense_Mutation	SNP							pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.G222R	ENST00000276654.5	37	c.664	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549420	0.86127	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.96802	-4.13;-4.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98402	1.0568	10	0.72032	D	0.01	-18.9229	19.7554	0.96287	0.0:1.0:0.0:0.0	.	222;241	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	R	222;241	ENSP00000399148:G222R;ENSP00000276654:G241R	ENSP00000276654:G241R	G	-	1	0	LRP12	105579235	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.727000	0.68523	2.665000	0.90641	0.563000	0.77884	GGG	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	protein_coding	OTTHUMT00000380821.1	C	NM_013437	-		105510059	-1	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105510059	C	T	105510059	3	4	13	1	0	0	0	0	1	0	0	0	8956	594	21	2	1870	2	LRP12	8	105510059	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	1	105510059	40853963	34	966	10	2									
TG	7038	genome.wustl.edu	37	chr8	133931621	133931621	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctctgtttttttctagTtaagtgtcctgaaggaagct	8	6	2	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:133931621T>G	ENST00000220616.4	+	21	4419	c.4379T>G	c.(4378-4380)gTt>gGt	p.V1460G	TG_ENST00000377869.1_Splice_Site_p.V1460G|TG_ENST00000542445.1_5'Flank	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1460					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTTTCTAGTTAAGTGTCCT	0.418																																																	0								ENSG00000042832						74	68	70					8																	133931621		2203	4300	6503	TG	SO:0001630	splice_region_variant	0			-	HGNC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4379-1T>G	8.37:g.133931621T>G		Somatic	0	34	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP							pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.V1460G	ENST00000220616.4	37	c.4379	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184901	0.38609	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	D;D	0.97959	-4.63;-4.45	5.52	4.36	0.52297	.	1.705140	0.03205	N	0.175360	D	0.98554	0.9517	M	0.74881	2.28	0.58432	D	0.999993	D	0.89917	1.0	D	0.69307	0.963	D	0.91991	0.5603	9	.	.	.	.	8.5718	0.33574	0.0:0.0882:0.0:0.9118	.	1460	P01266	THYG_HUMAN	G	1460;266;1460	ENSP00000367100:V1460G;ENSP00000220616:V1460G	.	V	+	2	0	TG	134000803	0.998000	0.40836	0.740000	0.30986	0.213000	0.24496	3.531000	0.53546	1.026000	0.39733	-0.290000	0.09829	GTT	-	pirsf_Thyroglobulin		0.418	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	T	NM_003235	-	Missense_Mutation	133931621	1	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	SNP	0.945	G	G	133931621	T	G	133931621	5	3	13	1	0	0	0	0	0	0	1	0	15820	1739	60	5	4461	5	TG	8	133931621	Splice_Site	SNP	T	TCGA-3B-A9HY-01A-11D-A38Z-09	28421562	133931621	12432401	35	967											
C10orf72	196740	genome.wustl.edu	37	chr10	50285292	50285292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcttgttaaacacagaCtgccagacgatgaccagcat	8	12	0	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr10:50285292C>T	ENST00000332853.4	-	4	629	c.606G>A	c.(604-606)caG>caA	p.Q202Q		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TAAACACAGACTGCCAGACGA	0.522																																																	0								ENSG00000165633						137	108	118					10																	50285292		2203	4300	6503	VSTM4	SO:0001819	synonymous_variant	0			-	HGNC	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.606G>A	10.37:g.50285292C>T		Somatic	0	26	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.00	B4DNI6|Q96MX7	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Q202	ENST00000332853.4	37	c.606	CCDS31198.1	10																																																																																			-	NULL		0.522	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM4	protein_coding	OTTHUMT00000047966.2	C	NM_144984	-		50285292	-1	no_errors	ENST00000332853	ensembl	human	known	74_37	silent	SNP	1.000	T	T	50285292	C	T	50285292	2	4	13	1	0	0	0	0	0	0	0	1	1617	564	20	2		2	C10orf72	10	50285292	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		50285292	85249455	36	968											
LIPA	3988	genome.wustl.edu	37	chr10	90988006	90988006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagagtgtcttatgtttccGagaccaggtatttcctctgc	10	9	2	2	rs140686447		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr10:90988006G>A	ENST00000336233.5	-	4	701	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	LIPA_ENST00000456827.1_Missense_Mutation_p.R127W|LIPA_ENST00000371837.1_Missense_Mutation_p.R71W			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	127					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTATGTTTCCGAGACCAGGTA	0.438																																																	0								ENSG00000107798	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	134	123	127		379,379	4.3	1	10	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LIPA	NM_000235.2,NM_001127605.1	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	127/400,127/400	90988006	1,13005	2203	4300	6503	LIPA	SO:0001583	missense	0			-	HGNC	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"Wolman disease"	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.379C>T	10.37:g.90988006G>A	ENSP00000337354:p.Arg127Trp	Somatic	0	48	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	7	78.79	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP							pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.R127W	ENST00000336233.5	37	c.379	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406683	0.62399	0.0	1.16E-4	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	4.31	4.31	0.51392	Alpha/beta hydrolase fold-1 (1);	0.122932	0.50627	D	0.000102	D	0.84831	0.5559	H	0.98048	4.135	0.39774	D	0.972201	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.994;0.995	D	0.88690	0.3208	10	0.87932	D	0	-18.1139	10.2158	0.43168	0.0:0.0:0.6999:0.3001	.	122;71;127	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	W	127;71;127;127;85;127;122;127;127;127	ENSP00000337354:R127W;ENSP00000360903:R71W;ENSP00000413019:R127W;ENSP00000388415:R127W;ENSP00000282673:R127W	ENSP00000282673:R127W	R	-	1	2	LIPA	90977986	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.698000	0.37794	2.675000	0.91044	0.655000	0.94253	CGG	-	pfam_AB_hydrolase_1		0.438	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	protein_coding	OTTHUMT00000049308.1	G	NM_000235	rs140686447		90988006	-1	no_errors	ENST00000336233	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90988006	G	A	90988006	3	1	13	1	0	0	0	0	1	0	0	0	8821	1057	37	1	848	1	LIPA	10	90988006	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	40702714	90988006	44546741	37	969											
PLCE1	51196	genome.wustl.edu	37	chr10	96014797	96014797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcttcttcaaacaagaGcccatccaggtggggcctta	10	12	3	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr10:96014797G>A	ENST00000371380.3	+	10	3780	c.3545G>A	c.(3544-3546)aGc>aAc	p.S1182N	PLCE1_ENST00000371375.1_Missense_Mutation_p.S874N|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1182N|PLCE1_ENST00000371385.3_Missense_Mutation_p.S874N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1182					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)				TCAAACAAGAGCCCATCCAGG	0.517																																																	0								ENSG00000138193						90	88	89					10																	96014797		1907	4125	6032	PLCE1	SO:0001583	missense	0			-	HGNC		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.3545G>A	10.37:g.96014797G>A	ENSP00000360431:p.Ser1182Asn	Somatic	0	19	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S1182N	ENST00000371380.3	37	c.3545	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902030	0.52227	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24538	1.85;1.85;1.86;1.86	5.71	4.81	0.61882	.	0.202557	0.45126	D	0.000393	T	0.19685	0.0473	L	0.36672	1.1	0.24171	N	0.995628	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.005	T	0.07385	-1.0775	10	0.39692	T	0.17	.	9.771	0.40589	0.0731:0.1412:0.7857:0.0	.	874;1182	Q9P212-2;Q9P212	.;PLCE1_HUMAN	N	1182;1182;874;874	ENSP00000260766:S1182N;ENSP00000360431:S1182N;ENSP00000360438:S874N;ENSP00000360426:S874N	ENSP00000260766:S1182N	S	+	2	0	PLCE1	96004787	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.869000	0.39519	2.695000	0.91970	0.650000	0.86243	AGC	-	NULL		0.517	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341	-		96014797	1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96014797	G	A	96014797	3	1	13	1	0	0	0	0	1	0	0	0	12036	971	34	2	3869	2	PLCE1	10	96014797	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	5026791	96014797	39519950	38	970											
C11orf41	25758	genome.wustl.edu	37	chr11	33628349	33628349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaggagccaggagtcatCggcagtcctcaacggcgagg	16	11	2	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:33628349C>T	ENST00000321505.4	+	13	4331	c.4151C>T	c.(4150-4152)tCg>tTg	p.S1384L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1390L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1384						integral component of membrane (GO:0016021)											CAGGAGTCATCGGCAGTCCTC	0.582																																																	0								ENSG00000110427						23	26	25					11																	33628349		2042	4202	6244	KIAA1549L	SO:0001583	missense	0			-	HGNC	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.4151C>T	11.37:g.33628349C>T	ENSP00000315295:p.Ser1384Leu	Somatic	0	35	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	B0QYU0	Missense_Mutation	SNP							NULL	p.S1390L	ENST00000321505.4	37	c.4169	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.323354|2.323354	0.41096|0.41096	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	5.43|5.43	4.52|4.52	0.55395|0.55395	.|.	.|0.441755	.|0.25192	.|N	.|0.032448	T|T	0.41465|0.41465	0.1160|0.1160	M|M	0.64997|0.64997	1.995|1.995	0.28711|0.28711	N|N	0.903531|0.903531	.|B	.|0.32604	.|0.377	.|B	.|0.21151	.|0.033	T|T	0.48364|0.48364	-0.9042|-0.9042	5|9	.|0.72032	.|D	.|0.01	0.2235|0.2235	10.4633|10.4633	0.44592|0.44592	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|1390	.|E9PAT2	.|.	W|L	782|1384;1390;1223	.|.	.|ENSP00000315295:S1384L	R|S	+|+	1|2	2|0	C11orf41|C11orf41	33584925|33584925	0.827000|0.827000	0.29292|0.29292	0.138000|0.138000	0.22173|0.22173	0.492000|0.492000	0.33523|0.33523	4.091000|4.091000	0.57700|0.57700	1.294000|1.294000	0.44707|0.44707	0.561000|0.561000	0.74099|0.74099	CGG|TCG	-	NULL		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	protein_coding	OTTHUMT00000317998.1	C	NM_012194	-		33628349	1	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	SNP	0.868	T	T	33628349	C	T	33628349	3	4	13	1	0	0	0	0	1	0	0	0	1642	893	31	1	4219	1	C11orf41	11	33628349	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		33628349	101378167	39	971											
LTBP3	4054	genome.wustl.edu	37	chr11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-													tcgaccctgccgcccaggccCagcagcagcagcagcagcag					rs577530923	byFrequency	TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						cgcccaggcccagcagcagcagc	0.818																																																	0								ENSG00000168056		,,	2,10,52		1,0,0,5,0,26					,,	2.7	1			1	37,32,177		18,0,1,14,4,86	no	codingComplex,utr-5,codingComplex	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	19,0,1,19,4,112	A1A1,A1A2,A1R,A2A2,A2R,RR		28.0488,18.75,26.129	,,	,,		39,42,229				LTBP3	SO:0001651	inframe_deletion	0				HGNC	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.103_105delCTG	11.37:g.65325335_65325337delCAG	ENSP00000301873:p.Leu35del	Somatic	0	33	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L35in_frame_del	ENST00000301873.5	37	c.105_103	CCDS44647.1	11																																																																																			-	NULL		0.818	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	CAG	NM_021070			65325328	-1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_del	DEL	0.996:0.996:0.995	-	-	65325328	CAG	-	65325326	7	5	13	1	0	1	0	1	0	0	0	0	9077	581	21	0	3918	0	LTBP3	11	65325326	In_Frame_Del	DEL	CAG	TCGA-3B-A9HY-01A-11D-A38Z-09	31696977	65325326	69681190	40	972											
OR8B12	219858	genome.wustl.edu	37	chr11	124413017	124413017	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagaggaaggatgtcAcacatgaaatgattgacaag	12	5	2	4			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:124413017A>G	ENST00000306842.2	-	1	558	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	178						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)		GAAGGATGTCACACATGAAAT	0.502																																																	0								ENSG00000170953						158	120	133					11																	124413017		2201	4299	6500	OR8B12	SO:0001819	synonymous_variant	0			-	HGNC		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.534T>C	11.37:g.124413017A>G		Somatic	0	33	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	24	42.86	B2RNF6|Q6IEW8|Q96RC7	Silent	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C178	ENST00000306842.2	37	c.534	CCDS31711.1	11																																																																																			-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	protein_coding	OTTHUMT00000387061.1	A		-		124413017	-1	no_errors	ENST00000306842	ensembl	human	known	74_37	silent	SNP	1.000	G	G	124413017	A	G	124413017	2	3	13	1	0	0	0	0	0	0	0	1	11228	157	6	5		5	OR8B12	11	124413017	Silent	SNP	A	TCGA-3B-A9HY-01A-11D-A38Z-09	59087691	124413017	10593499	41	973											
LRTM2	654429	genome.wustl.edu	37	chr12	1943471	1943471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcctgcaccctgcccaagGagctgagggggaaggacatg	15	11	0	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:1943471G>A	ENST00000543818.1	+	5	1539	c.697G>A	c.(697-699)Gag>Aag	p.E233K	CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.E233K|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.E233K|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	233	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGCCCAAGGAGCTGAGGGG	0.582																																																	0								ENSG00000166159						56	51	52					12																	1943471		2203	4300	6503	LRTM2	SO:0001583	missense	0			-	HGNC	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.697G>A	12.37:g.1943471G>A	ENSP00000446278:p.Glu233Lys	Somatic	0	60	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	24	44.19	A7E2U6	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E233K	ENST00000543818.1	37	c.697	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295373	0.60086	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.52754	0.65;0.65;0.65	5.35	5.35	0.76521	Cysteine-rich flanking region, C-terminal (1);	0.050047	0.85682	D	0.000000	T	0.38268	0.1034	L	0.28344	0.845	0.80722	D	1	B	0.33512	0.415	B	0.34301	0.179	T	0.13335	-1.0513	10	0.19147	T	0.46	.	19.0625	0.93099	0.0:0.0:1.0:0.0	.	233	Q8N967	LRTM2_HUMAN	K	233	ENSP00000446278:E233K;ENSP00000299194:E233K;ENSP00000444737:E233K	ENSP00000299194:E233K	E	+	1	0	LRTM2	1813732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.497000	0.84241	0.563000	0.77884	GAG	-	smart_Cys-rich_flank_reg_C		0.582	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	protein_coding	OTTHUMT00000398055.1	G		-		1943471	1	no_errors	ENST00000299194	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1943471	G	A	1943471	3	1	13	1	0	0	0	0	1	0	0	0	9047	1175	41	2	707	2	LRTM2	12	1943471	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09		1943471	131908424	42	974											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20905320	20905320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacttttcattttaaagaAaaattatgtttcaaaacaca	3	5	2	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:20905320A>C	ENST00000266509.2	+	15	2365	c.1997A>C	c.(1996-1998)aAa>aCa	p.K666T	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.E700D|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E582D|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E700D|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.K617T	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	666					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)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATTTTAAAGAAAAATTATGTT	0.338																																																	0								ENSG00000139155						51	52	51					12																	20905320		2203	4300	6503	SLCO1C1	SO:0001583	missense	0			-	HGNC	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1997A>C	12.37:g.20905320A>C	ENSP00000266509:p.Lys666Thr	Somatic	0	80	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	29	47.27	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.E700D	ENST00000266509.2	37	c.2100	CCDS8683.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.944499|2.944499	0.53079|0.53079	.|.	.|.	ENSG00000139155|ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102|ENST00000540354;ENST00000266509	T;T;T|T;T	0.39056|0.60171	1.1;1.1;1.17|0.21;0.21	5.37|5.37	4.22|4.22	0.49857|0.49857	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.767390|.	0.01272|.	N|.	0.009483|.	T|T	0.47619|0.47619	0.1455|0.1455	N|N	0.08118|0.08118	0|0	0.23174|0.23174	N|N	0.998176|0.998176	P;P|P;B	0.43094|0.52692	0.799;0.698|0.955;0.451	P;B|P;B	0.44921|0.57620	0.464;0.275|0.824;0.41	T|T	0.26985|0.26985	-1.0087|-1.0087	10|9	0.21540|0.42905	T|T	0.41|0.14	.|.	5.3101|5.3101	0.15825|0.15825	0.8398:0.0:0.1602:0.0|0.8398:0.0:0.1602:0.0	.|.	582;700|617;666	F5GZD6;Q5JPA4|B7Z3Q3;Q9NYB5	.;.|.;SO1C1_HUMAN	D|T	700;700;582|617;666	ENSP00000444149:E700D;ENSP00000370964:E700D;ENSP00000444527:E582D|ENSP00000438665:K617T;ENSP00000266509:K666T	ENSP00000370964:E700D|ENSP00000266509:K666T	E|K	+|+	3|2	2|0	SLCO1C1|SLCO1C1	20796587|20796587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.352000|2.352000	0.44080|0.44080	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	GAA|AAA	-	NULL		0.338	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	protein_coding	OTTHUMT00000401765.1	A	NM_017435	-		20905320	1	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	SNP	1.000	C	C	20905320	A	C	20905320	3	2	13	1	0	0	0	0	1	0	0	0	14733	14	1	5	2154	5	SLCO1C1	12	20905320	Missense_Mutation	SNP	A	TCGA-3B-A9HY-01A-11D-A38Z-09	18961849	20905320	112946575	43	975											
C12orf35	55196	genome.wustl.edu	37	chr12	32134974	32134974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttctgtggatggtgttcAgactcttgctcaaactaatg	9	8	5	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:32134974A>C	ENST00000312561.4	+	4	1499	c.1085A>C	c.(1084-1086)cAg>cCg	p.Q362P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	362																	GATGGTGTTCAGACTCTTGCT	0.363																																																	0								ENSG00000174718						75	77	76					12																	32134974		2203	4300	6503	KIAA1551	SO:0001583	missense	0			-	HGNC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1085A>C	12.37:g.32134974A>C	ENSP00000310338:p.Gln362Pro	Somatic	0	51	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	44	33.33	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP							NULL	p.Q362P	ENST00000312561.4	37	c.1085	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623571	0.46840	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08546	3.71;3.08	4.93	-0.463	0.12164	.	0.811426	0.10879	N	0.623979	T	0.05547	0.0146	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.42899	-0.9424	9	.	.	.	.	2.4012	0.04401	0.4798:0.2932:0.0849:0.1421	.	362	Q9HCM1	CL035_HUMAN	P	362	ENSP00000310338:Q362P;ENSP00000370442:Q362P	.	Q	+	2	0	C12orf35	32026241	0.028000	0.19301	0.281000	0.24762	0.013000	0.08279	0.675000	0.25232	0.319000	0.23209	0.454000	0.30748	CAG	-	NULL		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	protein_coding	OTTHUMT00000250307.2	A	NM_018169	-		32134974	1	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	SNP	0.000	C	C	32134974	A	C	32134974	3	2	13	1	0	0	0	0	1	0	0	0	1684	188	7	5	1087	5	C12orf35	12	32134974	Missense_Mutation	SNP	A	TCGA-3B-A9HY-01A-11D-A38Z-09	11229654	32134974	101716921	44	976											
PRPF40B	25766	genome.wustl.edu	37	chr12	50036073	50036073	+	Missense_Mutation	SNP	G	G	A													ggagaaggaggaggcacgcaGgatgcggcgcagggaagctg							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:50036073G>A	ENST00000380281.1	+	19	1938	c.1874G>A	c.(1873-1875)aGg>aAg	p.R625K	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R647K|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R612K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	625	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGGCACGCAGGATGCGGCGC	0.637																																																	0								ENSG00000110844						104	95	98					12																	50036073		2203	4300	6503	PRPF40B	SO:0001583	missense	0			-	HGNC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1874G>A	12.37:g.50036073G>A	ENSP00000369634:p.Arg625Lys	Somatic	0	9	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP							pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R647K	ENST00000380281.1	37	c.1940		12	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635807	0.14386	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.20463	2.07;2.08	4.35	4.35	0.52113	FF domain (1);	0.239881	0.26359	N	0.024836	T	0.04452	0.0122	N	0.00483	-1.445	0.80722	D	1	B;B;B	0.22276	0.04;0.067;0.067	B;B;B	0.24155	0.023;0.051;0.051	T	0.36672	-0.9738	10	0.02654	T	1	-18.0568	6.7373	0.23417	0.1945:0.0:0.8055:0.0	.	625;612;625	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	K	612;625	ENSP00000261897:R612K;ENSP00000369634:R625K	ENSP00000261897:R612K	R	+	2	0	PRPF40B	48322340	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.558000	0.67319	2.438000	0.82558	0.655000	0.94253	AGG	-	NULL		0.637	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	protein_coding	OTTHUMT00000404838.1	G	NM_012272	-		50036073	1	no_errors	ENST00000548825	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50036073	G	A	50036073	3	1	13	1	0	0	0	0	1	0	0	0	12577	1000	35	2	1948	2	PRPF40B	12	50036073	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	17901099	50036073	83815822	45	977	11	2									
PRPF40B	25766	genome.wustl.edu	37	chr12	50036074	50036074	+	Silent	SNP	G	G	A													gagaaggaggaggcacgcagGatgcggcgcagggaagctgc					rs148666758		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:50036074G>A	ENST00000380281.1	+	19	1939	c.1875G>A	c.(1873-1875)agG>agA	p.R625R	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.R647R|PRPF40B_ENST00000261897.1_Silent_p.R612R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	625	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGGCACGCAGGATGCGGCGCA	0.642																																																	0								ENSG00000110844	G	,,,	3,4403	6.2+/-15.9	0,3,2200	104	95	98		1875,1836,,	2.7	1	12	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,utr-3,utr-3	PRPF40B,FMNL3	NM_001031698.1,NM_012272.1,NM_175736.4,NM_198900.2	,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,	625/872,612/859,,	50036074	3,13003	2203	4300	6503	PRPF40B	SO:0001819	synonymous_variant	0			-	HGNC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1875G>A	12.37:g.50036074G>A		Somatic	0	9	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP							pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R647	ENST00000380281.1	37	c.1941		12																																																																																			-	NULL		0.642	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	protein_coding	OTTHUMT00000404838.1	G	NM_012272	rs148666758		50036074	1	no_errors	ENST00000548825	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50036074	G	A	50036074	2	1	13	1	0	0	0	0	0	0	0	1	12577	1165	41	2		2	PRPF40B	12	50036074	Silent	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	1	50036074	83815821	46	978	11	2									
GTSF1	121355	genome.wustl.edu	37	chr12	54856510	54856510	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctcctggtttggttgaCtgcaagacaataaagattgg	12	6	0	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:54856510C>T	ENST00000552397.1	-	5	1141		c.e5-1		GTSF1_ENST00000552395.1_Splice_Site|GTSF1_ENST00000305879.5_Splice_Site|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1							cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GTTTGGTTGACTGCAAGACAA	0.478																																																	0								ENSG00000170627						93	93	93					12																	54856510		2203	4300	6503	GTSF1	SO:0001630	splice_region_variant	0			-	HGNC	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.245-1G>A	12.37:g.54856510C>T		Somatic	0	50	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B3KQ60|Q0VGM4|Q8N778	Splice_Site	SNP							-	e4-1	ENST00000552397.1	37	c.245-1	CCDS8881.1	12	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523601	0.27299	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3801	0.74648	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTSF1	53142777	1.000000	0.71417	0.999000	0.59377	0.331000	0.28603	4.627000	0.61276	2.703000	0.92315	0.655000	0.94253	.	-	-		0.478	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	protein_coding	OTTHUMT00000406187.1	C	NM_144594	-	Intron	54856510	-1	no_errors	ENST00000546931	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	54856510	C	T	54856510	5	4	13	1	0	0	0	0	0	0	1	0	6888	579	20	2	275	2	GTSF1	12	54856510	Splice_Site	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	4820436	54856510	78995385	47	979											
BEST3	144453	genome.wustl.edu	37	chr12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-													ttccaggtgggtgaggccctGggggggtttcttgagggcac							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)cccfs	p.P444fs	BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGGCCCTGGGGGGGTTTC	0.592																																																	0								ENSG00000127325						76	78	78					12																	70049362		1929	4152	6081	BEST3	SO:0001589	frameshift_variant	0				HGNC	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1332delC	12.37:g.70049362delG	ENSP00000332413:p.Pro444fs	Somatic	0	29	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL							pfam_Bestrophin/UPF0187	p.R445fs	ENST00000330891.5	37	c.1332	CCDS8992.2	12																																																																																			-	NULL		0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	protein_coding	OTTHUMT00000313908.2	G	NM_152439			70049362	-1	no_errors	ENST00000330891	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	70049362	G	-	70049362	7	5	13	1	0	1	0	1	0	0	0	0	1406	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Del	DEL	G	TCGA-3B-A9HY-01A-11D-A38Z-09	15192852	70049362	63802533	48	980											
PARP4	143	genome.wustl.edu	37	chr13	25021323	25021323	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcatttggtcttctAtctatttataaaagaggaat	8	6	4	1	rs73172125		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr13:25021323A>G	ENST00000381989.3	-	26	3221	c.3116T>C	c.(3115-3117)aTa>aCa	p.I1039T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1039	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1039T(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGGTCTTCTATCTATTTATA	0.408																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)						ENSG00000102699						40	41	41					13																	25021323		2203	4300	6503	PARP4	SO:0001630	splice_region_variant	0			-	HGNC	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3115-1T>C	13.37:g.25021323A>G		Somatic	0	27	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.I1039T	ENST00000381989.3	37	c.3116	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297585	0.60086	.	.	ENSG00000102699	ENST00000381989	T	0.23147	1.92	4.69	4.69	0.59074	von Willebrand factor, type A (2);	0.215738	0.48767	D	0.000175	T	0.42177	0.1191	M	0.79475	2.455	0.40246	D	0.978015	P	0.45348	0.856	P	0.51055	0.657	T	0.48222	-0.9054	10	0.72032	D	0.01	-21.476	12.4624	0.55738	1.0:0.0:0.0:0.0	.	1039	Q9UKK3	PARP4_HUMAN	T	1039	ENSP00000371419:I1039T	ENSP00000371419:I1039T	I	-	2	0	PARP4	23919323	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.226000	0.58606	2.105000	0.64084	0.514000	0.50259	ATA	-	pfam_VWF_A,pfscan_VWF_A		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	protein_coding	OTTHUMT00000044189.1	A	NM_006437	rs73172125	Missense_Mutation	25021323	-1	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	SNP	1.000	G	G	25021323	A	G	25021323	5	3	13	1	0	0	0	0	0	0	1	0	11465	463	16	5	2094	5	PARP4	13	25021323	Splice_Site	SNP	A	TCGA-3B-A9HY-01A-11D-A38Z-09		25021323	90148555	49	981											
RB1	5925	genome.wustl.edu	37	chr13	48955394	48955394	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catttttaggaagtacatctCagaatcttgattctggaaca	7	7	3	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr13:48955394C>T	ENST00000267163.4	+	17	1648	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	504	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.T502fs*22(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGTACATCTCAGAATCTTGA	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Complex - frameshift(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM030506	RB1	M		ENSG00000139687						32	32	32					13																	48955394		2201	4299	6500	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1510C>T	13.37:g.48955394C>T	ENSP00000267163:p.Gln504*	Somatic	0	35	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q504*	ENST00000267163.4	37	c.1510	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.927048	0.97940	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.1	5.1	0.69264	.	0.329098	0.32901	N	0.005510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.4998	0.90877	0.0:1.0:0.0:0.0	.	.	.	.	X	483;504	.	ENSP00000267163:Q504X	Q	+	1	0	RB1	47853395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.370000	0.80446	0.650000	0.86243	CAG	-	pfam_RB_A,superfamily_Cyclin-like		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		-		48955394	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48955394	C	T	48955394	4	4	13	1	0	0	0	0	0	1	0	0	13106	827	29	2	1576	2	RB1	13	48955394	Nonsense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	23934071	48955394	66214484	50	982											
LTBP2	4053	genome.wustl.edu	37	chr14	74995277	74995277	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgggcagtgccccgctgctCctctgcccttgctcccttgg	11	19	1	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr14:74995277C>T	ENST00000261978.4	-	12	2663	c.2277G>A	c.(2275-2277)agG>agA	p.R759R	LTBP2_ENST00000556690.1_Silent_p.R759R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	759					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCCGCTGCTCCTCTGCCCTT	0.677																																																	0								ENSG00000119681						43	45	44					14																	74995277		2203	4300	6503	LTBP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2277G>A	14.37:g.74995277C>T		Somatic	0	47	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	20	55.56	Q99907|Q9NS51	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R759	ENST00000261978.4	37	c.2277	CCDS9831.1	14																																																																																			-	NULL		0.677	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	protein_coding	OTTHUMT00000413595.1	C	NM_000428	-		74995277	-1	no_errors	ENST00000261978	ensembl	human	known	74_37	silent	SNP	0.995	T	T	74995277	C	T	74995277	2	4	13	1	0	0	0	0	0	0	0	1	9076	854	30	2		2	LTBP2	14	74995277	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		74995277	32354263	51	983											
ACAN	176	genome.wustl.edu	37	chr15	89398253	89398253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcagtgaggccattcCcctcagtggagctgttcccc	9	17	2	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr15:89398253C>T	ENST00000561243.1	+	11	2437	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	ACAN_ENST00000559004.1_Missense_Mutation_p.P813S|ACAN_ENST00000439576.2_Missense_Mutation_p.P813S|ACAN_ENST00000352105.7_Missense_Mutation_p.P813S			P16112	PGCA_HUMAN	aggrecan	812	12 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP].|KS.				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)			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)			GAGGCCATTCCCCTCAGTGGA	0.607																																																	0								ENSG00000157766						31	35	34					15																	89398253		1957	4151	6108	ACAN	SO:0001583	missense	0			-	HGNC	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.2437C>T	15.37:g.89398253C>T	ENSP00000453342:p.Pro813Ser	Somatic	0	55	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	47	40.51	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P813S	ENST00000561243.1	37	c.2437	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.933823	0.02340	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02121	4.68;4.44	2.6	1.48	0.22813	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.24701	0.055;0.055	T	0.46428	-0.9192	9	0.11794	T	0.64	.	8.6156	0.33829	0.0:0.7605:0.2395:0.0	.	813;813	E7ENV9;E7EX88	.;.	S	813	ENSP00000387356:P813S;ENSP00000341615:P813S	ENSP00000268134:P813S	P	+	1	0	ACAN	87199257	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-1.176000	0.03099	1.388000	0.46506	0.313000	0.20887	CCC	-	NULL		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135	-		89398253	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	0.039	T	T	89398253	C	T	89398253	3	4	13	1	0	0	0	0	1	0	0	0	117	623	22	2	2479	2	ACAN	15	89398253	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		89398253	13133139	52	984											
COTL1	23406	genome.wustl.edu	37	chr16	84651171	84651171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggacgatggtggagccGtcatatttaaaagtcaccct	12	10	2	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr16:84651171G>A	ENST00000262428.4	-	2	258	c.96C>T	c.(94-96)gaC>gaT	p.D32D	COTL1_ENST00000564057.1_Intron	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	32	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						TGGTGGAGCCGTCATATTTAA	0.612																																																	0								ENSG00000103187						20	21	21					16																	84651171		2182	4264	6446	COTL1	SO:0001819	synonymous_variant	0			-	HGNC	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.96C>T	16.37:g.84651171G>A		Somatic	0	100	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2RDU3|D3DUL9|Q86XM5	Silent	SNP							pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.D32	ENST00000262428.4	37	c.96	CCDS10947.1	16																																																																																			-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin		0.612	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COTL1	protein_coding	OTTHUMT00000269075.1	G	NM_021149	-		84651171	-1	no_errors	ENST00000262428	ensembl	human	known	74_37	silent	SNP	1.000	A	A	84651171	G	A	84651171	2	1	13	1	0	0	0	0	0	0	0	1	3763	1136	40	1		1	COTL1	16	84651171	Silent	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09		84651171	5703582	53	985											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A													gatggtgaggatgggcctccGgttcatgccgcccatgcagg					rs397516437|rs121912651		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	ENSG00000141510						151	112	125					17																	7577539		2203	4300	6503	TP53	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;	-	HGNC	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	Somatic	0	44	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	5	76.19	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	rs121912651		7577539	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7577539	G	A	7577539	3	1	13	1	0	0	0	0	1	0	0	0	16388	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09		7577539	73617671	54	986	12	2									
TP53	7157	genome.wustl.edu	37	chr17	7577540	7577540	+	Silent	SNP	G	G	A													atggtgaggatgggcctccgGttcatgccgcccatgcagga					rs397516437		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:7577540G>A	ENST00000269305.4	-	7	930	c.741C>T	c.(739-741)aaC>aaT	p.N247N	TP53_ENST00000420246.2_Silent_p.N247N|TP53_ENST00000445888.2_Silent_p.N247N|TP53_ENST00000359597.4_Silent_p.N247N|TP53_ENST00000413465.2_Silent_p.N247N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Silent_p.N247N	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	247	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (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.R248W(16)|p.N247N(10)|p.0?(8)|p.?(5)|p.N247K(2)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.N247I(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(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)	TGGGCCTCCGGTTCATGCCGC	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	52	Substitution - Missense(19)|Substitution - coding silent(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Complex - compound substitution(3)|Deletion - Frameshift(1)	skin(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(4)|breast(4)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|central_nervous_system(2)|oesophagus(2)|ovary(2)|peritoneum(1)|soft_tissue(1)|liver(1)|large_intestine(1)|penis(1)|pancreas(1)						ENSG00000141510						152	113	126					17																	7577540		2203	4300	6503	TP53	SO:0001819	synonymous_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;	-	HGNC	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.741C>T	17.37:g.7577540G>A		Somatic	0	44	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	7	66.67	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N247	ENST00000269305.4	37	c.741	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7577540	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7577540	G	A	7577540	2	1	13	1	0	0	0	0	0	0	0	1	16388	1252	44	2		2	TP53	17	7577540	Silent	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	1	7577540	73617670	55	987	12	2									
MYH8	4626	genome.wustl.edu	37	chr17	10303854	10303854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atactgtctgcgtgcttcttCcgaagagcagccaccatagc	9	13	2	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:10303854C>T	ENST00000403437.2	-	27	3682	c.3588G>A	c.(3586-3588)cgG>cgA	p.R1196R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1196					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTGCTTCTTCCGAAGAGCAG	0.547									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0								ENSG00000133020						81	76	78					17																	10303854		2203	4300	6503	MYH8	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant	-	HGNC		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3588G>A	17.37:g.10303854C>T		Somatic	0	40	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	4	64.29	Q14910	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1196	ENST00000403437.2	37	c.3588	CCDS11153.1	17																																																																																			-	pfam_Myosin_tail		0.547	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	C	NM_002472	-		10303854	-1	no_errors	ENST00000403437	ensembl	human	known	74_37	silent	SNP	0.976	T	T	10303854	C	T	10303854	2	4	13	1	0	0	0	0	0	0	0	1	10043	842	30	2		2	MYH8	17	10303854	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	2726314	10303854	70891356	56	988											
LHX1	3975	genome.wustl.edu	37	chr17	35299571	35299571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgcccggcgccacgcCttcttccgcagtccgcgccg	13	20	1	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:35299571C>T	ENST00000254457.5	+	4	2161	c.750C>T	c.(748-750)gcC>gcT	p.A250A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	250					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GGCGCCACGCCTTCTTCCGCA	0.706																																																	0								ENSG00000132130						10	13	12					17																	35299571		2163	4233	6396	LHX1	SO:0001819	synonymous_variant	0			-	HGNC	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.750C>T	17.37:g.35299571C>T		Somatic	0	22	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	5	37.50	Q3MIW0	Silent	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A250	ENST00000254457.5	37	c.750	CCDS11316.1	17																																																																																			-	NULL		0.706	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	protein_coding	OTTHUMT00000256704.3	C	NM_005568	-		35299571	1	no_errors	ENST00000254457	ensembl	human	known	74_37	silent	SNP	1.000	T	T	35299571	C	T	35299571	2	4	13	1	0	0	0	0	0	0	0	1	8772	668	24	2		2	LHX1	17	35299571	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	24995717	35299571	45895639	57	989											
ACSF2	80221	genome.wustl.edu	37	chr17	48551285	48551285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaggacgatcggatggggGaagagatttgtgcctgcatt	16	5	0	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:48551285G>A	ENST00000300441.4	+	14	1752	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Missense_Mutation_p.E507K|ACSF2_ENST00000427954.2_Missense_Mutation_p.E575K|ACSF2_ENST00000502667.1_Missense_Mutation_p.E537K|ACSF2_ENST00000541920.1_Missense_Mutation_p.E390K	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	550					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCGGATGGGGGAAGAGATTTG	0.542																																																	0								ENSG00000167107						83	79	80					17																	48551285		2203	4300	6503	ACSF2	SO:0001583	missense	0			-	HGNC	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1648G>A	17.37:g.48551285G>A	ENSP00000300441:p.Glu550Lys	Somatic	0	51	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.E550K	ENST00000300441.4	37	c.1648	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.123931	0.94429	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	H	0.97983	4.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.90260	0.4300	10	0.87932	D	0	-28.6065	18.3413	0.90307	0.0:0.0:1.0:0.0	.	537;575;507;550	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	K	550;390;507;575;537	ENSP00000300441:E550K;ENSP00000437987:E390K;ENSP00000425964:E507K;ENSP00000401831:E575K;ENSP00000421884:E537K	ENSP00000300441:E550K	E	+	1	0	ACSF2	45906284	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	9.457000	0.97630	2.332000	0.79248	0.561000	0.74099	GAA	-	NULL		0.542	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	protein_coding	OTTHUMT00000367423.3	G	NM_025149	-		48551285	1	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48551285	G	A	48551285	3	1	13	1	0	0	0	0	1	0	0	0	175	1175	41	2	1702	2	ACSF2	17	48551285	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	13251714	48551285	32643925	58	990											
WDR18	57418	genome.wustl.edu	37	chr19	991345	991345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcatccggacggtggccCtcaaaggtgggcgcgcctct	15	13	2	0			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:991345C>T	ENST00000251289.5	+	7	948	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	WDR18_ENST00000587001.2_Missense_Mutation_p.L309F	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	309					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		GACGGTGGCCCTCAAAGGTGG	0.692																																																	0								ENSG00000065268						20	17	18					19																	991345		2126	4194	6320	WDR18	SO:0001583	missense	0			-	HGNC		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.925C>T	19.37:g.991345C>T	ENSP00000251289:p.Leu309Phe	Somatic	0	26	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	1	88.89	O60390|Q9BWR2	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L309F	ENST00000251289.5	37	c.925	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677110	0.29783	.	.	ENSG00000065268	ENST00000251289	T	0.18810	2.19	3.83	1.65	0.23941	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058200	0.64402	D	0.000002	T	0.14227	0.0344	L	0.44542	1.39	0.43021	D	0.994578	P	0.35656	0.514	B	0.32090	0.14	T	0.08146	-1.0736	10	0.33940	T	0.23	.	6.8768	0.24151	0.1745:0.7311:0.0:0.0944	.	309	Q9BV38	WDR18_HUMAN	F	309	ENSP00000251289:L309F	ENSP00000251289:L309F	L	+	1	0	WDR18	942345	1.000000	0.71417	0.547000	0.28179	0.133000	0.20885	5.618000	0.67722	0.289000	0.22422	-0.282000	0.10007	CTC	-	superfamily_WD40_repeat_dom		0.692	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	protein_coding	OTTHUMT00000458225.2	C		-		991345	1	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	SNP	1.000	T	T	991345	C	T	991345	3	4	13	1	0	0	0	0	1	0	0	0	17285	681	24	2	951	2	WDR18	19	991345	Missense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09		991345	58137638	59	991											
EPS15L1	58513	genome.wustl.edu	37	chr19	16539564	16539564	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtcaatgtcactgagGtcccagacctgcaagggaga	11	11	2	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:16539564G>C	ENST00000248070.6	-	8	646	c.507C>G	c.(505-507)gaC>gaG	p.D169E	EPS15L1_ENST00000602009.1_Missense_Mutation_p.D15E|EPS15L1_ENST00000535753.2_Missense_Mutation_p.D169E|EPS15L1_ENST00000594975.1_Missense_Mutation_p.D169E|EPS15L1_ENST00000597937.1_Missense_Mutation_p.D169E|EPS15L1_ENST00000455140.2_Missense_Mutation_p.D169E	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	169	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGTCACTGAGGTCCCAGACCT	0.572																																																	0								ENSG00000127527						116	69	85					19																	16539564		2203	4300	6503	EPS15L1	SO:0001583	missense	0			-	HGNC	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.507C>G	19.37:g.16539564G>C	ENSP00000248070:p.Asp169Glu	Somatic	0	54	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP							superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.D169E	ENST00000248070.6	37	c.507	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	g	2.710	-0.269076	0.05716	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.28255	1.62;1.62;1.62	4.87	1.06	0.20224	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.056264	0.64402	D	0.000002	T	0.17619	0.0423	N	0.26130	0.795	0.41986	D	0.99082	P;B;B;B;B;B	0.35944	0.529;0.017;0.039;0.325;0.175;0.033	B;B;B;B;B;B	0.42851	0.4;0.075;0.058;0.366;0.162;0.036	T	0.19549	-1.0302	10	0.05351	T	0.99	.	4.6985	0.12815	0.3574:0.165:0.4776:0.0	.	169;169;168;169;169;169	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	E	169	ENSP00000393313:D169E;ENSP00000248070:D169E;ENSP00000440103:D169E	ENSP00000248070:D169E	D	-	3	2	EPS15L1	16400564	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.312000	0.33574	0.488000	0.27723	-0.273000	0.10243	GAC	-	smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology		0.572	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	protein_coding	OTTHUMT00000461040.1	G	NM_021235	-		16539564	-1	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	SNP	0.999	C	C	16539564	G	C	16539564	3	2	13	1	0	0	0	0	1	0	0	0	5195	1252	44	4	2151	4	EPS15L1	19	16539564	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	15548219	16539564	42589419	60	992											
FFAR3	2865	genome.wustl.edu	37	chr19	35850190	35850190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggctggggcaggcagGtctggtgagtgtggcctgct	20	9	1	1	rs62109582	byFrequency	TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:35850190G>A	ENST00000327809.4	+	2	599	c.398G>A	c.(397-399)gGt>gAt	p.G133D	FFAR3_ENST00000594310.1_Missense_Mutation_p.G133D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	133					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGGCAGGCAGGTCTGGTGAGT	0.607																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0								ENSG00000185897						9	9	9					19																	35850190		2160	4196	6356	FFAR3	SO:0001583	missense	0			-	HGNC	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.398G>A	19.37:g.35850190G>A	ENSP00000328230:p.Gly133Asp	Somatic	0	16	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	B2RWM8|Q14CM7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.G133D	ENST00000327809.4	37	c.398	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130641	0.37630	.	.	ENSG00000185897	ENST00000327809	T	0.37752	1.18	5.52	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.544005	0.18613	U	0.136083	T	0.27489	0.0675	L	0.44542	1.39	0.09310	N	1	P	0.45078	0.85	P	0.44772	0.46	T	0.31392	-0.9945	10	0.36615	T	0.2	-0.257	9.0121	0.36148	0.0:0.2225:0.2439:0.5336	.	133	O14843	FFAR3_HUMAN	D	133	ENSP00000328230:G133D	ENSP00000328230:G133D	G	+	2	0	FFAR3	40542030	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.278000	0.18753	-0.058000	0.13177	0.455000	0.32223	GGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.607	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	protein_coding	OTTHUMT00000418873.2	G	NM_005304	rs144435503		35850190	1	no_errors	ENST00000327809	ensembl	human	known	74_37	missense	SNP	0.000	A	A	35850190	G	A	35850190	3	1	13	1	0	0	0	0	1	0	0	0	5831	1261	44	2	400	2	FFAR3	19	35850190	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	19310626	35850190	23278793	61	993											
PSG1	5669	genome.wustl.edu	37	chr19	43383689	43383689	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtgagcaggagccccttCcatttgatgcgctgtgtgca	12	12	0	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:43383689C>T	ENST00000436291.2	-	1	161	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG1_ENST00000595356.1_Nonsense_Mutation_p.W15*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.W15*|PSG1_ENST00000244296.2_Nonsense_Mutation_p.W15*|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Nonsense_Mutation_p.W15*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.W15*	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	15					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGAGCCCCTTCCATTTGATGC	0.567																																																	0								ENSG00000231924						167	148	155					19																	43383689		1510	2707	4217	PSG1	SO:0001587	stop_gained	0			-	HGNC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.45G>A	19.37:g.43383689C>T	ENSP00000413041:p.Trp15*	Somatic	0	81	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	39	48.00	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Nonsense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W15*	ENST00000436291.2	37	c.45	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	17.77	3.470749	0.63625	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.64	1.64	0.23874	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7892	0.23689	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000244296:W15X	W	-	3	0	PSG1	48075529	0.200000	0.23398	0.024000	0.17045	0.045000	0.14185	1.940000	0.40223	1.249000	0.43950	0.184000	0.17185	TGG	-	NULL		0.567	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	protein_coding	OTTHUMT00000321426.1	C		-		43383689	-1	no_errors	ENST00000312439	ensembl	human	known	74_37	nonsense	SNP	0.024	T	T	43383689	C	T	43383689	4	4	13	1	0	0	0	0	0	1	0	0	12658	856	30	2	1291	2	PSG1	19	43383689	Nonsense_Mutation	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	7533499	43383689	15745294	62	994											
LILRB5	10990	genome.wustl.edu	37	chr19	54756818	54756818	+	Frame_Shift_Del	DEL	C	C	-													caggacgaaggccactgagaCcccagtcacaacccccaggt							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:54756818delC	ENST00000316219.5	-	9	1494	c.1387delG	c.(1387-1389)gtcfs	p.V463fs	LILRB5_ENST00000345866.6_Frame_Shift_Del_p.V364fs|LILRB5_ENST00000449561.2_Frame_Shift_Del_p.V464fs|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Frame_Shift_Del_p.V455fs	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	463					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCACTGAGACCCCAGTCACA	0.587																																																	0								ENSG00000105609						178	116	137					19																	54756818		2203	4300	6503	LILRB5	SO:0001589	frameshift_variant	0				HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1387delG	19.37:g.54756818delC	ENSP00000320390:p.Val463fs	Somatic	0	18	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	Q8N760	Frame_Shift_Del	DEL							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V455fs	ENST00000316219.5	37	c.1363	CCDS12885.1	19																																																																																			-	NULL		0.587	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	C				54756818	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	54756818	C	-	54756818	7	5	13	1	0	1	0	1	0	0	0	0	8796	507	18	0	405	0	LILRB5	19	54756818	Frame_Shift_Del	DEL	C	TCGA-3B-A9HY-01A-11D-A38Z-09	11373129	54756818	4372165	63	995											
ANGPT4	51378	genome.wustl.edu	37	chr20	853735	853735	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtagacgccgttgaggttTgacaggccacaggcgtcaaa	13	9	1	3			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr20:853735T>A	ENST00000381922.3	-	9	1482	c.1380A>T	c.(1378-1380)tcA>tcT	p.S460S	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	460	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CGTTGAGGTTTGACAGGCCAC	0.622																																					Pancreas(181;481 2077 3259 31286 49856)												0								ENSG00000101280						74	67	69					20																	853735		2203	4300	6503	ANGPT4	SO:0001819	synonymous_variant	0			-	HGNC	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1380A>T	20.37:g.853735T>A		Somatic	0	27	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S460	ENST00000381922.3	37	c.1380	CCDS13009.1	20																																																																																			-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.622	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	protein_coding	OTTHUMT00000077493.1	T	NM_015985	-		853735	-1	no_errors	ENST00000381922	ensembl	human	known	74_37	silent	SNP	1.000	A	A	853735	T	A	853735	2	1	13	1	0	0	0	0	0	0	0	1	612	1799	63	5		5	ANGPT4	20	853735	Silent	SNP	T	TCGA-3B-A9HY-01A-11D-A38Z-09		853735	62171785	64	996											
TCEA2	6919	genome.wustl.edu	37	chr20	62699435	62699435	+	Missense_Mutation	SNP	G	G	A													aagccagggagcgggggaggGgcatgcctctgcccacgtcc							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr20:62699435G>A	ENST00000343484.5	+	4	446	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_Missense_Mutation_p.G93S|TCEA2_ENST00000361317.2_Missense_Mutation_p.G66S	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	93					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGGGGGAGGGGCATGCCTCT	0.642																																																	0								ENSG00000171703						47	43	44					20																	62699435		2203	4300	6503	TCEA2	SO:0001583	missense	0			-	HGNC	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.277G>A	20.37:g.62699435G>A	ENSP00000343515:p.Gly93Ser	Somatic	0	48	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP							pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.G93S	ENST00000343484.5	37	c.277	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	G	2.099	-0.406583	0.04832	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442	.	.	.	2.92	1.97	0.26223	Transcription factor IIS, N-terminal (1);	0.631054	0.16276	N	0.221570	T	0.14570	0.0352	N	0.12182	0.205	0.28067	N	0.93274	B;B;B;B	0.15473	0.0;0.0;0.001;0.013	B;B;B;B	0.14023	0.001;0.001;0.002;0.01	T	0.29336	-1.0015	9	0.06236	T	0.91	-11.7768	4.6702	0.12685	0.3491:0.0:0.6509:0.0	.	93;93;66;93	Q15560;Q6IB64;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.	S	66;93;93;66;66;66;66	.	ENSP00000339432:G66S	G	+	1	0	TCEA2	62169879	0.003000	0.15002	0.944000	0.38274	0.733000	0.41908	-0.132000	0.10467	0.819000	0.34492	-0.254000	0.11334	GGC	-	superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII		0.642	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	protein_coding	OTTHUMT00000080277.2	G	NM_198723	-		62699435	1	no_errors	ENST00000343484	ensembl	human	known	74_37	missense	SNP	0.725	A	A	62699435	G	A	62699435	3	1	13	1	0	0	0	0	1	0	0	0	15675	1232	43	2	291	2	TCEA2	20	62699435	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	61845700	62699435	326085	65	997	13	2									
TCEA2	6919	genome.wustl.edu	37	chr20	62699436	62699436	+	Missense_Mutation	SNP	G	G	A													agccagggagcgggggagggGcatgcctctgcccacgtcct							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr20:62699436G>A	ENST00000343484.5	+	4	447	c.278G>A	c.(277-279)gGc>gAc	p.G93D	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_Missense_Mutation_p.G93D|TCEA2_ENST00000361317.2_Missense_Mutation_p.G66D	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	93					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGGGGGAGGGGCATGCCTCTG	0.642																																																	0								ENSG00000171703						47	43	44					20																	62699436		2203	4300	6503	TCEA2	SO:0001583	missense	0			-	HGNC	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.278G>A	20.37:g.62699436G>A	ENSP00000343515:p.Gly93Asp	Somatic	0	47	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP							pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.G93D	ENST00000343484.5	37	c.278	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920891	0.17982	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442	.	.	.	2.92	0.904	0.19302	Transcription factor IIS, N-terminal (1);	0.631054	0.16276	N	0.221570	T	0.14527	0.0351	N	0.12182	0.205	0.29042	N	0.885064	B;B;B;B	0.13145	0.0;0.0;0.0;0.007	B;B;B;B	0.11329	0.001;0.001;0.001;0.006	T	0.21690	-1.0238	9	0.12103	T	0.63	-11.7768	2.8808	0.05646	0.3223:0.2394:0.4383:0.0	.	93;93;66;93	Q15560;Q6IB64;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.	D	66;93;93;66;66;66;66	.	ENSP00000339432:G66D	G	+	2	0	TCEA2	62169880	0.000000	0.05858	0.896000	0.35187	0.698000	0.40448	-0.103000	0.10940	0.286000	0.22352	0.561000	0.74099	GGC	-	superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII		0.642	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	protein_coding	OTTHUMT00000080277.2	G	NM_198723	-		62699436	1	no_errors	ENST00000343484	ensembl	human	known	74_37	missense	SNP	0.625	A	A	62699436	G	A	62699436	3	1	13	1	0	0	0	0	1	0	0	0	15675	1203	42	2	292	2	TCEA2	20	62699436	Missense_Mutation	SNP	G	TCGA-3B-A9HY-01A-11D-A38Z-09	1	62699436	326084	66	998	13	2									
KRTAP13-1	140258	genome.wustl.edu	37	chr21	31768501	31768501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttttcctaccccagcAaccaggtctacagcactgac	8	15	1	1			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr21:31768501A>C	ENST00000355459.2	+	1	110	c.97A>C	c.(97-99)Aac>Cac	p.N33H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	33						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACCCCAGCAACCAGGTCTA	0.597																																																	0								ENSG00000198390						121	114	117					21																	31768501		2203	4300	6503	KRTAP13-1	SO:0001583	missense	0			-	HGNC	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.97A>C	21.37:g.31768501A>C	ENSP00000347635:p.Asn33His	Somatic	0	27	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	Q14D20|Q3LI79	Missense_Mutation	SNP							pfam_KRTAP_PMG	p.N33H	ENST00000355459.2	37	c.97	CCDS13590.2	21	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828601	0.16749	.	.	ENSG00000198390	ENST00000355459	T	0.03468	3.92	4.33	0.482	0.16815	.	0.303544	0.22540	N	0.058727	T	0.05410	0.0143	M	0.75447	2.3	0.09310	N	1	P	0.34639	0.461	B	0.38264	0.269	T	0.27088	-1.0084	10	0.59425	D	0.04	.	2.085	0.03644	0.3844:0.3722:0.0951:0.1483	.	33	Q8IUC0	KR131_HUMAN	H	33	ENSP00000347635:N33H	ENSP00000347635:N33H	N	+	1	0	KRTAP13-1	30690372	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.028000	0.13644	0.074000	0.16767	0.528000	0.53228	AAC	-	pfam_KRTAP_PMG		0.597	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-1	protein_coding	OTTHUMT00000128252.3	A		-		31768501	1	no_errors	ENST00000355459	ensembl	human	known	74_37	missense	SNP	0.004	C	C	31768501	A	C	31768501	3	2	13	1	0	0	0	0	1	0	0	0	8524	130	5	5	99	5	KRTAP13-1	21	31768501	Missense_Mutation	SNP	A	TCGA-3B-A9HY-01A-11D-A38Z-09		31768501	16361394	67	999											
EFCAB6	64800	genome.wustl.edu	37	chr22	43972249	43972249	+	Frame_Shift_Del	DEL	T	T	-													ggggttagatgaattcttagTttcctcaaaaaataatgata					rs573721779		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr22:43972249delT	ENST00000262726.7	-	26	3601	c.3348delA	c.(3346-3348)aaafs	p.K1116fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K964fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1116					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)				GAATTCTTAGTTTCCTCAAAA	0.353																																																	0								ENSG00000186976						56	61	59					22																	43972249		2203	4297	6500	EFCAB6	SO:0001589	frameshift_variant	0				HGNC	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.3348delA	22.37:g.43972249delT	ENSP00000262726:p.Lys1116fs	Somatic	0	66	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	59	29.76	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Del	DEL							pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K1116fs	ENST00000262726.7	37	c.3348	CCDS14049.1	22																																																																																			-	NULL		0.353	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	protein_coding	OTTHUMT00000353176.1	T	NM_022785			43972249	-1	no_errors	ENST00000262726	ensembl	human	known	74_37	frame_shift_del	DEL	0.144	-	-	43972249	T	-	43972249	7	5	13	1	0	1	0	1	0	0	0	0	4941	1722	60	0	1185	0	EFCAB6	22	43972249	Frame_Shift_Del	DEL	T	TCGA-3B-A9HY-01A-11D-A38Z-09		43972249	7332317	68	1000											
PLXNB2	23654	genome.wustl.edu	37	chr22	50717058	50717058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgttgacgcgcttccaCcggccctcccgctgtgacgt	13	15	0	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr22:50717058C>T	ENST00000449103.1	-	29	4754	c.4614G>A	c.(4612-4614)cgG>cgA	p.R1538R	PLXNB2_ENST00000359337.4_Silent_p.R1538R			O15031	PLXB2_HUMAN	plexin B2	1538					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCGCTTCCACCGGCCCTCCC	0.677																																																	0								ENSG00000196576						37	42	40					22																	50717058		2095	4206	6301	PLXNB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4614G>A	22.37:g.50717058C>T		Somatic	0	66	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	27	43.75	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1538	ENST00000449103.1	37	c.4614	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	9.274	1.046413	0.19748	.	.	ENSG00000196576	ENST00000399991;ENST00000399964	.	.	.	4.48	-4.85	0.03142	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	5	0.33940	T	0.23	.	5.4536	0.16578	0.0964:0.3461:0.4116:0.146	.	.	.	.	M	10;170	.	ENSP00000382845:V170M	V	-	1	0	PLXNB2	49059185	0.027000	0.19231	0.986000	0.45419	0.707000	0.40811	-0.947000	0.03901	-0.435000	0.07264	-0.258000	0.10820	GTG	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	C	NM_012401	-		50717058	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	SNP	0.909	T	T	50717058	C	T	50717058	2	4	13	1	0	0	0	0	0	0	0	1	12126	494	18	2		2	PLXNB2	22	50717058	Silent	SNP	C	TCGA-3B-A9HY-01A-11D-A38Z-09	6744809	50717058	587508	69	1001											
ALAS2	212	genome.wustl.edu	37	chrX	55044015	55044015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagggtcattgtgccTgaagacaaacttggctgctc	13	9	2	2			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chrX:55044015T>C	ENST00000330807.5	-	7	1044	c.907A>G	c.(907-909)Agg>Ggg	p.R303G	ALAS2_ENST00000396198.3_Missense_Mutation_p.R290G|ALAS2_ENST00000335854.4_Missense_Mutation_p.R266G|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	303					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TCATTGTGCCTGAAGACAAAC	0.473																																																	0								ENSG00000158578						224	180	195					X																	55044015		2203	4300	6503	ALAS2	SO:0001583	missense	0			-	HGNC		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.907A>G	X.37:g.55044015T>C	ENSP00000332369:p.Arg303Gly	Somatic	0	38	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.R303G	ENST00000330807.5	37	c.907	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321418	0.60634	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95137	-3.62;-3.62;-3.62	5.24	2.89	0.33648	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046258	0.85682	D	0.000000	D	0.94387	0.8195	M	0.91354	3.2	0.58432	D	0.999998	B;B;B	0.30021	0.052;0.265;0.087	B;B;B	0.25291	0.018;0.059;0.018	D	0.92935	0.6367	10	0.87932	D	0	-20.9564	11.3118	0.49368	0.0:0.0:0.6348:0.3651	.	266;290;303	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	G	303;290;266	ENSP00000332369:R303G;ENSP00000379501:R290G;ENSP00000337131:R266G	ENSP00000332369:R303G	R	-	1	2	ALAS2	55060740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.235000	0.65348	0.766000	0.33244	0.417000	0.27973	AGG	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth		0.473	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	protein_coding	OTTHUMT00000056843.3	T	NM_000032	-		55044015	-1	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55044015	T	C	55044015	3	2	13	1	0	0	0	0	1	0	0	0	485	1579	55	5	876	5	ALAS2	23	55044015	Missense_Mutation	SNP	T	TCGA-3B-A9HY-01A-11D-A38Z-09		55044015	100226545	70	1002											
MAGEE2	139599	genome.wustl.edu	37	chrX	75004715	75004715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgaacggcctgggaagTgttgacacactgagagttga	14	8	0	4			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chrX:75004715T>G	ENST00000373359.2	-	1	364	c.172A>C	c.(172-174)Act>Cct	p.T58P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	58										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTGGGAAGTGTTGACACAC	0.587																																																	0								ENSG00000186675						40	36	38					X																	75004715		2203	4300	6503	MAGEE2	SO:0001583	missense	0			-	HGNC	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.172A>C	X.37:g.75004715T>G	ENSP00000362457:p.Thr58Pro	Somatic	0	13	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	Q5JSI5	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.T58P	ENST00000373359.2	37	c.172	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	T	7.192	0.591740	0.13812	.	.	ENSG00000186675	ENST00000373359	T	0.03920	3.76	2.83	0.969	0.19686	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47169	-0.9138	9	0.29301	T	0.29	.	3.3221	0.07054	0.0:0.5585:0.2694:0.1721	.	58	Q8TD90	MAGE2_HUMAN	P	58	ENSP00000362457:T58P	ENSP00000362457:T58P	T	-	1	0	MAGEE2	74921440	0.999000	0.42202	0.003000	0.11579	0.005000	0.04900	0.914000	0.28624	0.134000	0.18681	-0.511000	0.04467	ACT	-	NULL		0.587	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	protein_coding	OTTHUMT00000057288.1	T	NM_138703	-		75004715	-1	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	SNP	0.002	G	G	75004715	T	G	75004715	3	3	13	1	0	0	0	0	1	0	0	0	9188	1696	59	5	1403	5	MAGEE2	23	75004715	Missense_Mutation	SNP	T	TCGA-3B-A9HY-01A-11D-A38Z-09	19960700	75004715	80265845	71	1003											
TAF7L	54457	genome.wustl.edu	37	chrX	100531459	100531461	+	In_Frame_Del	DEL	TCA	TCA	-													catcttcatcatcctcatccTcatcatcatcattgttactt							TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	TCA	TCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chrX:100531459_100531461delTCA	ENST00000372907.3	-	10	1016_1018	c.1005_1007delTGA	c.(1003-1008)gatgag>gag	p.D335del	TAF7L_ENST00000356784.1_In_Frame_Del_p.D249del|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						atcctcatcctcatcatcatcat	0.394																																					Ovarian(104;431 1530 3210 15406 18594)												0								ENSG00000102387		,	0,3721		0,0,0,1592,537					,	-5.6	0			200	7,6477		0,4,3,2353,1767	no	coding,coding	TAF7L	NM_024885.3,NM_001168474.1	,	0,4,3,3945,2304	A1A1,A1R,A1,RR,R		0.108,0.0,0.0686	,	,		7,10198				TAF7L	SO:0001651	inframe_deletion	0				HGNC	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1005_1007delTGA	X.37:g.100531468_100531470delTCA	ENSP00000361998:p.Asp335del	Somatic	0	14	0		0.767205647723479				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	In_Frame_Del	DEL							pfam_TAFII55_prot_cons_reg	p.D335in_frame_del	ENST00000372907.3	37	c.1007_1005	CCDS35347.1	X																																																																																			-	NULL		0.394	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	protein_coding	OTTHUMT00000057526.2	TCA				100531461	-1	no_errors	ENST00000372907	ensembl	human	known	74_37	in_frame_del	DEL	0.009:0.005:0.000	-	-	100531461	TCA	-	100531459	7	5	13	1	0	1	0	1	0	0	0	0	15540	1551	54	0	397	0	TAF7L	23	100531459	In_Frame_Del	DEL	TCA	TCGA-3B-A9HY-01A-11D-A38Z-09	25526744	100531459	54739101	72	1004											
NMNAT1	64802	genome.wustl.edu	37	chr1	10042481	10042481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgggctcatatgtgttactCgggctggaaatgatgctcag	13	7	2	1			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr1:10042481C>T	ENST00000377205.1	+	5	706	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	188					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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATGTGTTACTCGGGCTGGAAA	0.458																																																	0								ENSG00000173614						144	137	140					1																	10042481		2203	4300	6503	NMNAT1	SO:0001583	missense	0			-	HGNC	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9"	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.562C>T	1.37:g.10042481C>T	ENSP00000366410:p.Arg188Trp	Somatic	0	38	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP							pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase	p.R188W	ENST00000377205.1	37	c.562	CCDS108.1	1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432432	0.62844	.	.	ENSG00000173614	ENST00000377205	D	0.98876	-5.2	5.46	4.54	0.55810	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	H	0.96015	3.755	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.98951	1.0794	10	0.87932	D	0	0.7063	8.8296	0.35076	0.2387:0.6862:0.0:0.0751	.	188	Q9HAN9	NMNA1_HUMAN	W	188	ENSP00000366410:R188W	ENSP00000366410:R188W	R	+	1	2	NMNAT1	9965068	0.997000	0.39634	0.984000	0.44739	0.515000	0.34225	2.703000	0.47110	2.553000	0.86117	0.462000	0.41574	CGG	-	pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase		0.458	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT1	protein_coding	OTTHUMT00000005029.1	C		-		10042481	1	no_errors	ENST00000377205	ensembl	human	known	74_37	missense	SNP	0.999	T	T	10042481	C	T	10042481	3	4	14	1	0	0	0	0	1	0	0	0	10500	875	31	1	576	1	NMNAT1	1	10042481	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		10042481	239208140	1	1005											
CFH	3075	genome.wustl.edu	37	chr1	196654214	196654214	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcatgtgataatcctTatattccaaatggtgactac	5	7	1	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr1:196654214T>A	ENST00000359637.2	+	6	681	c.619T>A	c.(619-621)Tat>Aat	p.Y207N	CFH_ENST00000439155.2_Missense_Mutation_p.Y271N|CFH_ENST00000367429.4_Missense_Mutation_p.Y271N			P08603	CFAH_HUMAN	complement factor H	271	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGATAATCCTTATATTCCAAA	0.318																																																	0								ENSG00000000971						70	69	69					1																	196654214		2203	4299	6502	CFH	SO:0001583	missense	0			-	HGNC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.619T>A	1.37:g.196654214T>A	ENSP00000352658:p.Tyr207Asn	Somatic	0	77	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	69	36.70	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y271N	ENST00000359637.2	37	c.811		1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498018	0.26861	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.62788	0.0;0.0;0.0	5.11	-10.2	0.00374	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.57902	0.2085	L	0.35341	1.055	0.09310	N	1	D;B;B;B	0.71674	0.998;0.208;0.027;0.224	D;B;B;B	0.87578	0.998;0.072;0.011;0.046	T	0.56019	-0.8048	9	0.18276	T	0.48	.	7.4891	0.27452	0.2112:0.4877:0.0:0.3012	.	207;271;271;271	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	N	271;271;271;207	ENSP00000356399:Y271N;ENSP00000402656:Y271N;ENSP00000352658:Y207N	ENSP00000352658:Y207N	Y	+	1	0	CFH	194920837	0.000000	0.05858	0.153000	0.22517	0.280000	0.26924	-2.158000	0.01281	-2.130000	0.00816	-0.356000	0.07607	TAT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.318	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	protein_coding	OTTHUMT00000087502.1	T	NM_000186	-		196654214	1	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	SNP	0.008	A	A	196654214	T	A	196654214	3	1	14	1	0	0	0	0	1	0	0	0	3285	1754	61	5	837	5	CFH	1	196654214	Missense_Mutation	SNP	T	TCGA-3B-A9HZ-01A-11D-A38Z-09	186611733	196654214	52596407	2	1006											
OTOF	9381	genome.wustl.edu	37	chr2	26750774	26750774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgatgctgctggccacCggccaccgaaatgtctgggg	14	13	1	0			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr2:26750774C>T	ENST00000272371.2	-	3	279	c.153G>A	c.(151-153)ccG>ccA	p.P51P	OTOF_ENST00000403946.3_Silent_p.P51P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	51					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGCCACCGGCCACCGAA	0.557																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155						68	69	69					2																	26750774		2203	4300	6503	OTOF	SO:0001819	synonymous_variant	0			-	HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.153G>A	2.37:g.26750774C>T		Somatic	0	56	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	33	48.48	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P51	ENST00000272371.2	37	c.153	CCDS1725.1	2																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom		0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	C		-		26750774	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	SNP	0.007	T	T	26750774	C	T	26750774	2	4	14	1	0	0	0	0	0	0	0	1	11305	639	23	1		1	OTOF	2	26750774	Silent	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		26750774	216448599	3	1007											
LRP2	4036	genome.wustl.edu	37	chr2	170065981	170065981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgctacccaatccactgCaataccccggactccatttt	4	17	0	0			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr2:170065981C>A	ENST00000263816.3	-	38	6736	c.6451G>T	c.(6451-6453)Gca>Tca	p.A2151S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2151					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAATCCACTGCAATACCCCGG	0.393																																																	0								ENSG00000081479						180	176	177					2																	170065981		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6451G>T	2.37:g.170065981C>A	ENSP00000263816:p.Ala2151Ser	Somatic	0	59	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	58	26.58	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2151S	ENST00000263816.3	37	c.6451	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752320	0.89753	.	.	ENSG00000081479	ENST00000263816	D	0.94232	-3.38	5.82	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.047468	0.85682	D	0.000000	D	0.96719	0.8929	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96722	0.9533	10	0.49607	T	0.09	.	15.0205	0.71627	0.0:0.9318:0.0:0.0682	.	2151	P98164	LRP2_HUMAN	S	2151	ENSP00000263816:A2151S	ENSP00000263816:A2151S	A	-	1	0	LRP2	169774227	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.770000	0.85390	1.462000	0.47948	0.655000	0.94253	GCA	-	smart_LDLR_classB_rpt		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-		170065981	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	A	A	170065981	C	A	170065981	3	1	14	1	0	0	0	0	1	0	0	0	8958	710	25	3	7684	3	LRP2	2	170065981	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09	143315207	170065981	73133392	4	1008											
PER2	8864	genome.wustl.edu	37	chr2	239170424	239170424	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaatgctggggtgcagGgccttctcctctgtgcaggg	15	11	2	1			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr2:239170424G>C	ENST00000254657.3	-	12	1641	c.1362C>G	c.(1360-1362)gcC>gcG	p.A454A	PER2_ENST00000440245.1_Silent_p.A454A|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	454					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGGGTGCAGGGCCTTCTCCT	0.597																																																	0								ENSG00000132326						50	47	48					2																	239170424		2199	4293	6492	PER2	SO:0001819	synonymous_variant	0			-	HGNC	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1362C>G	2.37:g.239170424G>C		Somatic	0	42	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.A454	ENST00000254657.3	37	c.1362	CCDS2528.1	2																																																																																			-	NULL		0.597	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	protein_coding	OTTHUMT00000257167.1	G	NM_022817	-		239170424	-1	no_errors	ENST00000254657	ensembl	human	known	74_37	silent	SNP	0.354	C	C	239170424	G	C	239170424	2	2	14	1	0	0	0	0	0	0	0	1	11732	1219	43	4		4	PER2	2	239170424	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	69104443	239170424	4028949	5	1009											
PFKFB4	5210	genome.wustl.edu	37	chr3	48587370	48587370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtcttgaccacgtcccGgcgatactggccaacattga	11	12	1	2	rs201114950		TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr3:48587370G>A	ENST00000232375.3	-	3	350	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	PFKFB4_ENST00000383734.2_Missense_Mutation_p.R80W|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R80W|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R46W|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R80W|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R69W	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	80	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCACGTCCCGGCGATACTGG	0.517																																																	0								ENSG00000114268						89	91	90					3																	48587370		2203	4300	6503	PFKFB4	SO:0001583	missense	0			-	HGNC	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.238C>T	3.37:g.48587370G>A	ENSP00000232375:p.Arg80Trp	Somatic	0	70	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	68	37.61	Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP							pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R80W	ENST00000232375.3	37	c.238	CCDS2771.1	3	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735870	0.69189	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000545984;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	5.03	5.03	0.67393	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	H	0.99525	4.61	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;0.998;1.0;1.0	D	0.94675	0.7860	9	0.87932	D	0	-0.7257	15.9094	0.79461	0.0:0.0:1.0:0.0	.	69;80;80;80	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	W	80;69;80;80;46;80;69;46;83	.	ENSP00000232375:R80W	R	-	1	2	PFKFB4	48562374	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	4.701000	0.61810	2.613000	0.88420	0.655000	0.94253	CGG	-	pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.517	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	protein_coding	OTTHUMT00000257503.2	G	NM_004567	rs201114950		48587370	-1	no_errors	ENST00000232375	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48587370	G	A	48587370	3	1	14	1	0	0	0	0	1	0	0	0	11765	1115	39	1	1219	1	PFKFB4	3	48587370	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09		48587370	149435060	6	1010											
MON1A	84315	genome.wustl.edu	37	chr3	49967152	49967152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgagggcacagcttcGcggggccccggccccctgcg	16	18	0	1			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr3:49967152G>A	ENST00000296473.3	-	1	426	c.168C>T	c.(166-168)cgC>cgT	p.R56R	MON1A_ENST00000455683.2_Silent_p.R56R|MON1A_ENST00000417270.1_5'UTR|MON1A_ENST00000483022.1_5'UTR	NM_032355.3	NP_115731.2	Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	0										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACAGCTTCGCGGGGCCCCG	0.716																																																	0								ENSG00000164077						10	11	11					3																	49967152		692	1590	2282	MON1A	SO:0001819	synonymous_variant	0			-	HGNC	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000296473.3:c.168C>T	3.37:g.49967152G>A		Somatic	0	21	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP							pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.R56	ENST00000296473.3	37	c.168	CCDS2808.2	3																																																																																			-	NULL		0.716	MON1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1A	protein_coding	OTTHUMT00000345534.2	G	NM_032355	-		49967152	-1	no_errors	ENST00000296473	ensembl	human	known	74_37	silent	SNP	0.002	A	A	49967152	G	A	49967152	2	1	14	1	0	0	0	0	0	0	0	1	9700	1074	38	1		1	MON1A	3	49967152	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	1379782	49967152	148055278	7	1011											
ATR	545	genome.wustl.edu	37	chr3	142277619	142277619	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaaatgaactgtttaCtacagaagcacaaaataagt	5	7	2	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr3:142277619C>T	ENST00000350721.4	-	8	1854		c.e8-1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAACTGTTTACTACAGAAGCA	0.289								Other conserved DNA damage response genes																																									0								ENSG00000175054						117	127	124					3																	142277619		2203	4300	6503	ATR	SO:0001630	splice_region_variant	0			-	HGNC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1733-1G>A	3.37:g.142277619C>T		Somatic	0	113	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	87	33.83	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP							-	e8-1	ENST00000350721.4	37	c.1733-1	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957983	0.73902	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.973	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143760309	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	4.043000	0.57354	2.885000	0.99019	0.655000	0.94253	.	-	-		0.289	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	C	NM_001184	-	Intron	142277619	-1	no_errors	ENST00000350721	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	142277619	C	T	142277619	5	4	14	1	0	0	0	0	0	0	1	0	1204	579	20	2	6362	2	ATR	3	142277619	Splice_Site	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09	92310467	142277619	55744811	8	1012											
C4orf14	84273	genome.wustl.edu	37	chr4	57843743	57843743	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaacggtaggcgagcGggcagcatgaggaagtagct	17	8	0	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr4:57843743G>C	ENST00000264230.4	-	1	1246	c.9C>G	c.(7-9)ccC>ccG	p.P3P	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	3					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GTAGGCGAGCGGGCAGCATGA	0.677																																																	0								ENSG00000084092						6	6	6					4																	57843743		2109	4098	6207	NOA1	SO:0001819	synonymous_variant	0			-	HGNC	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.9C>G	4.37:g.57843743G>C		Somatic	0	45	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	Q8N7L6|Q9BSQ9	Silent	SNP							superfamily_P-loop_NTPase	p.P3	ENST00000264230.4	37	c.9	CCDS3510.1	4																																																																																			-	NULL		0.677	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	protein_coding	OTTHUMT00000250694.2	G	NM_032313	-		57843743	-1	no_errors	ENST00000264230	ensembl	human	known	74_37	silent	SNP	0.000	C	C	57843743	G	C	57843743	2	2	14	1	0	0	0	0	0	0	0	1	2253	1103	39	4		4	C4orf14	4	57843743	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09		57843743	133310533	9	1013											
ST8SIA4	7903	genome.wustl.edu	37	chr5	100192092	100192092	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaactccaccacaggagctAgattacacctgaagaggaaa	8	11	0	3			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr5:100192092A>T	ENST00000231461.5	-	4	822	c.512T>A	c.(511-513)cTa>cAa	p.L171Q		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	171					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)		CACAGGAGCTAGATTACACCT	0.353																																																	0								ENSG00000113532						51	50	50					5																	100192092		2203	4300	6503	ST8SIA4	SO:0001583	missense	0			-	HGNC	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.512T>A	5.37:g.100192092A>T	ENSP00000231461:p.Leu171Gln	Somatic	0	28	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L171Q	ENST00000231461.5	37	c.512	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142296	0.77775	.	.	ENSG00000113532	ENST00000231461	T	0.32753	1.44	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000008	T	0.56673	0.2001	M	0.81179	2.53	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	T	0.61178	-0.7115	10	0.56958	D	0.05	.	14.6008	0.68441	1.0:0.0:0.0:0.0	.	171	Q92187	SIA8D_HUMAN	Q	171	ENSP00000231461:L171Q	ENSP00000231461:L171Q	L	-	2	0	ST8SIA4	100219991	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.100000	0.94213	2.220000	0.72140	0.482000	0.46254	CTA	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.353	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	protein_coding	OTTHUMT00000250632.3	A	NM_005668	-		100192092	-1	no_errors	ENST00000231461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100192092	A	T	100192092	3	4	14	1	0	0	0	0	1	0	0	0	15241	420	15	5	575	5	ST8SIA4	5	100192092	Missense_Mutation	SNP	A	TCGA-3B-A9HZ-01A-11D-A38Z-09		100192092	80723168	10	1014											
MEGF10	84466	genome.wustl.edu	37	chr5	126774171	126774171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaaactgcatccacacGtgcaactgccataatggagc	9	14	0	0	rs200994008		TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr5:126774171G>A	ENST00000274473.6	+	18	2412	c.2145G>A	c.(2143-2145)acG>acA	p.T715T	MEGF10_ENST00000503335.2_Silent_p.T715T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	715	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.|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)		GCATCCACACGTGCAACTGCC	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		21329	0		0	False		,,,				2504	0																0								ENSG00000145794						142	122	129					5																	126774171		2203	4300	6503	MEGF10	SO:0001819	synonymous_variant	0			GMAF=0	HGNC	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.2145G>A	5.37:g.126774171G>A		Somatic	0	56	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	46	32.35	Q68DE5|Q8WUL3	Silent	SNP							pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.T715	ENST00000274473.6	37	c.2145	CCDS4142.1	5																																																																																			-	smart_EG-like_dom,pfscan_EG-like_dom		0.517	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	protein_coding	OTTHUMT00000250973.2	G	NM_032446	rs200994008		126774171	1	no_errors	ENST00000274473	ensembl	human	known	74_37	silent	SNP	0.000	A	A	126774171	G	A	126774171	2	1	14	1	0	0	0	0	0	0	0	1	9462	1132	40	1		1	MEGF10	5	126774171	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	26582079	126774171	54141089	11	1015											
CNOT8	9337	genome.wustl.edu	37	chr5	154252173	154252173	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaggcaggctcagacTcactgctgacaggaatggct	12	12	2	2	rs368235746		TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr5:154252173T>G	ENST00000517876.1	+	7	1167	c.691T>G	c.(691-693)Tca>Gca	p.S231A	CNOT8_ENST00000519404.1_Missense_Mutation_p.S177A|CNOT8_ENST00000285896.6_Missense_Mutation_p.S231A|CNOT8_ENST00000523698.1_Missense_Mutation_p.S125A|CNOT8_ENST00000520671.1_Missense_Mutation_p.S125A|CNOT8_ENST00000521450.1_Missense_Mutation_p.S125A|CNOT8_ENST00000521583.1_Missense_Mutation_p.S125A|CNOT8_ENST00000403027.2_Missense_Mutation_p.S231A|CNOT8_ENST00000524105.1_Missense_Mutation_p.S67A			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	231					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)|negative regulation of cell proliferation (GO:0008285)|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)|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)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGCTCAGACTCACTGCTGAC	0.483																																					NSCLC(140;1804 1895 27149 29895 35312)												0								ENSG00000155508						117	110	113					5																	154252173		2203	4300	6503	CNOT8	SO:0001583	missense	0			-	HGNC	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"PGK promoter directed over production"	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.691T>G	5.37:g.154252173T>G	ENSP00000430493:p.Ser231Ala	Somatic	0	79	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	73	24.74	B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP							pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.S231A	ENST00000517876.1	37	c.691	CCDS4329.1	5	.	.	.	.	.	.	.	.	.	.	T	17.87	3.493858	0.64186	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000521450;ENST00000403027;ENST00000524105;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583;ENST00000519404;ENST00000518775	T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.95	5.95	0.96441	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.47016	1.485	0.80722	D	1	P;B	0.35107	0.484;0.376	B;P	0.46320	0.268;0.512	T	0.16897	-1.0387	10	0.44086	T	0.13	-9.3232	16.4237	0.83790	0.0:0.0:0.0:1.0	.	177;231	B7Z8R1;Q9UFF9	.;CNOT8_HUMAN	A	125;231;125;231;67;231;208;125;125;177;177	ENSP00000428565:S125A;ENSP00000430493:S231A;ENSP00000431034:S125A;ENSP00000384747:S231A;ENSP00000429576:S67A;ENSP00000285896:S231A;ENSP00000428305:S125A;ENSP00000429882:S125A;ENSP00000430833:S177A;ENSP00000429394:S177A	ENSP00000285896:S231A	S	+	1	0	CNOT8	154232366	1.000000	0.71417	0.998000	0.56505	0.540000	0.34992	7.417000	0.80156	2.279000	0.76181	0.533000	0.62120	TCA	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.483	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	protein_coding	OTTHUMT00000377449.1	T	NM_004779	-		154252173	1	no_errors	ENST00000285896	ensembl	human	known	74_37	missense	SNP	1.000	G	G	154252173	T	G	154252173	3	3	14	1	0	0	0	0	1	0	0	0	3627	1551	54	5	709	5	CNOT8	5	154252173	Missense_Mutation	SNP	T	TCGA-3B-A9HZ-01A-11D-A38Z-09	27478002	154252173	26663087	12	1016											
DNAH8	1769	genome.wustl.edu	37	chr6	38835893	38835893	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtattgaggactcttggatCtcaaaaaagagccagaccag	10	8	2	3			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr6:38835893C>G	ENST00000359357.3	+	46	6352	c.6098C>G	c.(6097-6099)tCt>tGt	p.S2033C	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2250C|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1997C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2033					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCTTGGATCTCAAAAAAGA	0.368																																																	0								ENSG00000124721						129	126	127					6																	38835893		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6098C>G	6.37:g.38835893C>G	ENSP00000352312:p.Ser2033Cys	Somatic	0	107	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	85	34.11	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S2033C	ENST00000359357.3	37	c.6098		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.990326|4.990326	0.93106|0.93106	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000394393|ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.|T;T;T	.|0.40756	.|2.52;2.52;1.02	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.360534	.|0.29822	.|N	.|0.011106	T|T	0.53642|0.53642	0.1809|0.1809	M|M	0.78049|0.78049	2.395|2.395	0.49915|0.49915	D|D	0.999836|0.999836	.|P	.|0.40230	.|0.708	.|P	.|0.49637	.|0.617	T|T	0.56583|0.56583	-0.7955|-0.7955	5|10	.|0.87932	.|D	.|0	.|.	20.27|20.27	0.98469|0.98469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2033	.|Q96JB1	.|DYH8_HUMAN	V|C	79|2238;2238;2033;1997	.|ENSP00000333363:S2238C;ENSP00000352312:S2033C;ENSP00000402294:S1997C	.|ENSP00000333363:S2238C	L|S	+|+	1|2	0|0	DNAH8|DNAH8	38943871|38943871	0.817000|0.817000	0.29147|0.29147	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.014000|6.014000	0.70784|0.70784	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CTC|TCT	-	superfamily_P-loop_NTPase		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	C	NM_001206927	-		38835893	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38835893	C	G	38835893	3	3	14	1	0	0	0	0	1	0	0	0	4609	913	32	4	6272	4	DNAH8	6	38835893	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		38835893	132279174	13	1017											
RUNX2	860	genome.wustl.edu	37	chr6	45514992	45514992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacagcagttccccaactGttttgaattctagtggcaga	9	11	1	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr6:45514992G>T	ENST00000371438.1	+	8	1874	c.1516G>T	c.(1516-1518)Gtt>Ttt	p.V506F	RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371436.6_Missense_Mutation_p.V484F|RUNX2_ENST00000465038.2_Missense_Mutation_p.V506F|RUNX2_ENST00000352853.5_Missense_Mutation_p.V574F|RUNX2_ENST00000359524.5_Missense_Mutation_p.V492F|RUNX2_ENST00000541979.1_Missense_Mutation_p.V552F|RUNX2_ENST00000371432.3_Missense_Mutation_p.V470F	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	506	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTCCCCAACTGTTTTGAATTC	0.488																																																	0								ENSG00000124813						89	92	91					6																	45514992		2203	4300	6503	RUNX2	SO:0001583	missense	0			-	HGNC	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1516G>T	6.37:g.45514992G>T	ENSP00000360493:p.Val506Phe	Somatic	0	28	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	O14614|O14615|O95181	Missense_Mutation	SNP							pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.V574F	ENST00000371438.1	37	c.1720	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438094	0.62955	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	Runx inhibition (1);	0.050922	0.85682	D	0.000000	T	0.26919	0.0659	N	0.22421	0.69	0.58432	D	0.999995	P;P;D	0.57899	0.948;0.924;0.981	P;P;P	0.55161	0.66;0.77;0.72	T	0.00847	-1.1542	9	.	.	.	-6.0428	20.3626	0.98863	0.0:0.0:1.0:0.0	.	552;506;492	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	F	506;574;552;506;484;492;470	ENSP00000420707:V506F;ENSP00000319087:V574F;ENSP00000446290:V552F;ENSP00000360493:V506F;ENSP00000360491:V484F;ENSP00000352514:V492F;ENSP00000360486:V470F	.	V	+	1	0	RUNX2	45622970	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.547000	0.82146	2.885000	0.99019	0.655000	0.94253	GTT	-	pfam_RunxI_C_dom,prints_AML1_Runt		0.488	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	protein_coding	OTTHUMT00000040755.2	G	NM_004348	-		45514992	1	no_errors	ENST00000352853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45514992	G	T	45514992	3	4	14	1	0	0	0	0	1	0	0	0	13756	1377	48	3	1562	3	RUNX2	6	45514992	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	6679099	45514992	125600075	14	1018											
KIAA1919	91749	genome.wustl.edu	37	chr6	111588128	111588128	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggaatgaaatggattttGaaatgattgaaacgaatgat	10	1	0	5			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr6:111588128G>A	ENST00000368847.4	+	4	1716	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	455					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AATGGATTTTGAAATGATTGA	0.408																																																	0								ENSG00000173214						100	104	102					6																	111588128		2203	4300	6503	KIAA1919	SO:0001583	missense	0			-	HGNC	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1363G>A	6.37:g.111588128G>A	ENSP00000357840:p.Glu455Lys	Somatic	0	56	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E455K	ENST00000368847.4	37	c.1363	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616592	0.87359	.	.	ENSG00000173214	ENST00000368847	T	0.61859	0.07	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71836	-0.4472	10	0.72032	D	0.01	-11.1356	20.6032	0.99464	0.0:0.0:1.0:0.0	.	455	Q5TF39	NAGT1_HUMAN	K	455	ENSP00000357840:E455K	ENSP00000357840:E455K	E	+	1	0	KIAA1919	111694821	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.160000	0.77495	2.875000	0.98604	0.643000	0.83706	GAA	-	NULL		0.408	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	protein_coding	OTTHUMT00000041827.1	G	NM_153369	-		111588128	1	no_errors	ENST00000368847	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111588128	G	A	111588128	3	1	14	1	0	0	0	0	1	0	0	0	8264	1291	45	2	1377	2	KIAA1919	6	111588128	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	66073136	111588128	59526939	15	1019			1	8		2	2	63	G		7.610327e-05
KIAA1919	91749	genome.wustl.edu	37	chr6	111588190	111588190	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagacatctagaagtagtctGacggagcccacagctgaagt	12	9	2	4			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr6:111588190G>A	ENST00000368847.4	+	4	1778	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	475					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GAAGTAGTCTGACGGAGCCCA	0.398																																																	0								ENSG00000173214						112	115	114					6																	111588190		2203	4300	6503	KIAA1919	SO:0001819	synonymous_variant	0			-	HGNC	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1425G>A	6.37:g.111588190G>A		Somatic	0	70	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L475	ENST00000368847.4	37	c.1425	CCDS5090.1	6																																																																																			-	NULL		0.398	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	protein_coding	OTTHUMT00000041827.1	G	NM_153369	-		111588190	1	no_errors	ENST00000368847	ensembl	human	known	74_37	silent	SNP	0.000	A	A	111588190	G	A	111588190	2	1	14	1	0	0	0	0	0	0	0	1	8264	1277	45	2		2	KIAA1919	6	111588190	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	62	111588190	59526877	16	1020			1	8		2	2	63	G		7.610327e-05
CARD11	84433	genome.wustl.edu	37	chr7	2959095	2959095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgtgcctgtcctggtaCatggtgtcacggacgtgcac	12	13	1	0			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr7:2959095C>T	ENST00000396946.4	-	18	2824	c.2421G>A	c.(2419-2421)atG>atA	p.M807I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	807					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTCCTGGTACATGGTGTCAC	0.592			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0								ENSG00000198286						109	78	88					7																	2959095		2203	4300	6503	CARD11	SO:0001583	missense	0			-	HGNC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2421G>A	7.37:g.2959095C>T	ENSP00000380150:p.Met807Ile	Somatic	0	43	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.M807I	ENST00000396946.4	37	c.2421	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100936	0.37048	.	.	ENSG00000198286	ENST00000396946	T	0.35236	1.32	5.03	5.03	0.67393	.	0.046212	0.85682	D	0.000000	T	0.33818	0.0876	L	0.38175	1.15	0.58432	D	0.999998	B	0.21688	0.059	B	0.24701	0.055	T	0.07693	-1.0759	10	0.37606	T	0.19	-41.7544	18.7247	0.91710	0.0:1.0:0.0:0.0	.	807	Q9BXL7	CAR11_HUMAN	I	807	ENSP00000380150:M807I	ENSP00000380150:M807I	M	-	3	0	CARD11	2925621	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.701000	0.61810	2.503000	0.84419	0.561000	0.74099	ATG	-	NULL		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	protein_coding	OTTHUMT00000059344.4	C	NM_032415	-		2959095	-1	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2959095	C	T	2959095	3	4	14	1	0	0	0	0	1	0	0	0	2647	478	17	2	1075	2	CARD11	7	2959095	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		2959095	156179568	17	1021											
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31120238	31120238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttcagtctgggagacCgaaaccattggtaagaggaa	12	7	3	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr7:31120238C>T	ENST00000304166.4	+	5	565	c.276C>T	c.(274-276)acC>acT	p.T92T	ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000409489.1_Silent_p.T92T|ADCYAP1R1_ENST00000396211.2_Silent_p.T92T	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	92					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTGGGAGACCGAAACCATTG	0.557																																					Ovarian(44;225 1186 2158 11092)												0								ENSG00000078549						75	75	75					7																	31120238		2203	4300	6503	ADCYAP1R1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.276C>T	7.37:g.31120238C>T		Somatic	0	23	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.T92	ENST00000304166.4	37	c.276	CCDS5433.1	7																																																																																			-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	protein_coding	OTTHUMT00000215041.3	C	NM_001118	-		31120238	1	no_errors	ENST00000304166	ensembl	human	known	74_37	silent	SNP	0.009	T	T	31120238	C	T	31120238	2	4	14	1	0	0	0	0	0	0	0	1	303	639	23	1		1	ADCYAP1R1	7	31120238	Silent	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09	28161143	31120238	128018425	18	1022											
LRRC4	64101	genome.wustl.edu	37	chr7	127668846	127668846	+	Silent	SNP	G	G	T													aggctgttttctgtccagtgGgccccatgtgctggtttgta							TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr7:127668846G>T	ENST00000249363.3	-	2	2105	c.1848C>A	c.(1846-1848)gcC>gcA	p.A616A	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	616					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)		CTGTCCAGTGGGCCCCATGTG	0.512																																																	0								ENSG00000128594						129	130	129					7																	127668846		2203	4300	6503	LRRC4	SO:0001819	synonymous_variant	0			-	HGNC	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.1848C>A	7.37:g.127668846G>T		Somatic	0	49	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A616	ENST00000249363.3	37	c.1848	CCDS5799.1	7																																																																																			-	NULL		0.512	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	protein_coding	OTTHUMT00000349170.1	G	NM_022143	-		127668846	-1	no_errors	ENST00000249363	ensembl	human	known	74_37	silent	SNP	1.000	T	T	127668846	G	T	127668846	2	4	14	1	0	0	0	0	0	0	0	1	8999	1219	43	3		3	LRRC4	7	127668846	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	96548608	127668846	31469817	19	1023	14	2									
LRRC4	64101	genome.wustl.edu	37	chr7	127668847	127668847	+	Missense_Mutation	SNP	G	G	A													ggctgttttctgtccagtggGccccatgtgctggtttgtag							TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr7:127668847G>A	ENST00000249363.3	-	2	2104	c.1847C>T	c.(1846-1848)gCc>gTc	p.A616V	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	616					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)		TGTCCAGTGGGCCCCATGTGC	0.512																																																	0								ENSG00000128594						130	130	130					7																	127668847		2203	4300	6503	LRRC4	SO:0001583	missense	0			-	HGNC	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.1847C>T	7.37:g.127668847G>A	ENSP00000249363:p.Ala616Val	Somatic	0	47	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A616V	ENST00000249363.3	37	c.1847	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512786	0.44660	.	.	ENSG00000128594	ENST00000249363	T	0.40756	1.02	3.85	3.85	0.44370	.	0.000000	0.64402	U	0.000003	T	0.44222	0.1283	L	0.55481	1.735	0.58432	D	0.999999	P	0.45594	0.862	P	0.46850	0.529	T	0.34329	-0.9833	10	0.31617	T	0.26	.	13.6461	0.62281	0.0:0.0:1.0:0.0	.	616	Q9HBW1	LRRC4_HUMAN	V	616	ENSP00000249363:A616V	ENSP00000249363:A616V	A	-	2	0	LRRC4	127456083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.909000	0.48758	2.140000	0.66376	0.561000	0.74099	GCC	-	NULL		0.512	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	protein_coding	OTTHUMT00000349170.1	G	NM_022143	-		127668847	-1	no_errors	ENST00000249363	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127668847	G	A	127668847	3	1	14	1	0	0	0	0	1	0	0	0	8999	1203	42	2	118	2	LRRC4	7	127668847	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	1	127668847	31469816	20	1024	14	2									
VPS13A	23230	genome.wustl.edu	37	chr9	79999548	79999550	+	Intron	DEL	TGA	TGA	-													atgactcacagtagcagtagTgatgatgatgatgatgatga					rs142234061|rs373635958		TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr9:79999548_79999550delTGA	ENST00000360280.3	+	68	9449				VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_In_Frame_Del_p.D3089del	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTAGCAGTAGtgatgatgatgat	0.33																																																	0								ENSG00000197969																																			VPS13A	SO:0001627	intron_variant	0				HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9189+2545TGA>-	9.37:g.79999557_79999559delTGA		Somatic	0	22	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.D3083in_frame_del	ENST00000360280.3	37	c.9237_9239	CCDS6655.1	9																																																																																			-	NULL		0.33	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	TGA	NM_015186			79999550	1	no_errors	ENST00000357409	ensembl	human	known	74_37	in_frame_del	DEL	0.999:0.998:0.997	-	-	79999550	TGA	-	79999548	6	5	14	0	1	1	0	1	0	0	0	0	17196	1693	59	0		0	VPS13A	9	79999548	Intron	DEL	TGA	TCGA-3B-A9HZ-01A-11D-A38Z-09		79999548	61213883	21	1025											
ANAPC2	29882	genome.wustl.edu	37	chr9	140080800	140080800	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacccgctccagcagactgAgcctgtgtctagaggagagc	13	12	1	5			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr9:140080800A>C	ENST00000323927.2	-	3	753	c.749T>G	c.(748-750)cTc>cGc	p.L250R	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CAGCAGACTGAGCCTGTGTCT	0.672																																																	0								ENSG00000176248						31	26	27					9																	140080800		2199	4297	6496	ANAPC2	SO:0001583	missense	0			-	HGNC	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.749T>G	9.37:g.140080800A>C	ENSP00000314004:p.Leu250Arg	Somatic	0	70	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	40	41.18	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP							pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.L250R	ENST00000323927.2	37	c.749	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868556	0.72065	.	.	ENSG00000176248	ENST00000323927	T	0.03065	4.06	3.85	3.85	0.44370	.	0.069486	0.64402	D	0.000012	T	0.08088	0.0202	L	0.52364	1.645	0.80722	D	1	D;D	0.56521	0.959;0.976	P;P	0.52217	0.496;0.693	T	0.06144	-1.0843	10	0.87932	D	0	-25.292	10.9369	0.47251	1.0:0.0:0.0:0.0	.	250;250	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	R	250	ENSP00000314004:L250R	ENSP00000314004:L250R	L	-	2	0	ANAPC2	139200621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.334000	0.90028	1.750000	0.51863	0.459000	0.35465	CTC	-	NULL		0.672	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	protein_coding	OTTHUMT00000055315.1	A	NM_013366	-		140080800	-1	no_errors	ENST00000323927	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140080800	A	C	140080800	3	2	14	1	0	0	0	0	1	0	0	0	603	304	11	5	1763	5	ANAPC2	9	140080800	Missense_Mutation	SNP	A	TCGA-3B-A9HZ-01A-11D-A38Z-09	60081252	140080800	1132631	22	1026											
PTEN	5728	genome.wustl.edu	37	chr10	89692791	89692791	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaatatccttttgaagAccataacccaccacagctag	5	13	0	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr10:89692791A>T	ENST00000371953.3	+	5	1632	c.275A>T	c.(274-276)gAc>gTc	p.D92V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D92G(3)|p.D92V(2)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.D92A(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTTTTGAAGACCATAACCCA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	58	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(2)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|soft_tissue(1)|urinary_tract(1)						ENSG00000171862						111	102	105					10																	89692791		2203	4300	6503	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.275A>T	10.37:g.89692791A>T	ENSP00000361021:p.Asp92Val	Somatic	0	46	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	23	46.67	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D92V	ENST00000371953.3	37	c.275	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449189	0.84101	.	.	ENSG00000171862	ENST00000371953	D	0.99470	-5.96	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97487	1.0051	9	.	.	.	-9.7034	14.8406	0.70220	1.0:0.0:0.0:0.0	.	92	P60484	PTEN_HUMAN	V	92	ENSP00000361021:D92V	.	D	+	2	0	PTEN	89682771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	GAC	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	A	NM_000314	-		89692791	1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89692791	A	T	89692791	3	4	14	1	0	0	0	0	1	0	0	0	12743	275	10	5	293	5	PTEN	10	89692791	Missense_Mutation	SNP	A	TCGA-3B-A9HZ-01A-11D-A38Z-09		89692791	45841956	23	1027											
PAMR1	25891	genome.wustl.edu	37	chr11	35513631	35513631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcctgctcggcactctGcacagtagaaccccttcaca	7	17	2	1			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr11:35513631G>A	ENST00000378880.2	-	3	786	c.341C>T	c.(340-342)gCa>gTa	p.A114V	PAMR1_ENST00000278360.3_Missense_Mutation_p.A114V|PAMR1_ENST00000378878.3_Missense_Mutation_p.A114V|PAMR1_ENST00000532848.1_Missense_Mutation_p.A74V|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	114						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCGGCACTCTGCACAGTAGAA	0.493																																																	0								ENSG00000149090						194	184	188					11																	35513631		2202	4298	6500	PAMR1	SO:0001583	missense	0			-	HGNC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.341C>T	11.37:g.35513631G>A	ENSP00000368158:p.Ala114Val	Somatic	0	31	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.A114V	ENST00000378880.2	37	c.341	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863447	0.51482	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.90676	-2.27;-2.3;-2.52;-2.27;-2.27;-2.71	5.38	5.38	0.77491	Epidermal growth factor-like (1);	0.118955	0.56097	D	0.000031	D	0.87418	0.6172	N	0.19112	0.55	0.27604	N	0.948876	P;P;P	0.52463	0.822;0.953;0.787	P;B;B	0.46172	0.506;0.411;0.372	D	0.83839	0.0256	10	0.87932	D	0	.	19.1285	0.93396	0.0:0.0:1.0:0.0	.	114;114;114	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	V	114;114;114;74;74;114	ENSP00000278360:A114V;ENSP00000368158:A114V;ENSP00000368156:A114V;ENSP00000433868:A74V;ENSP00000432591:A74V;ENSP00000433024:A114V	ENSP00000278360:A114V	A	-	2	0	PAMR1	35470207	1.000000	0.71417	0.849000	0.33467	0.026000	0.11368	7.805000	0.86005	2.530000	0.85305	0.591000	0.81541	GCA	-	smart_EG-like_dom		0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	protein_coding	OTTHUMT00000389177.1	G	NM_015430	-		35513631	-1	no_errors	ENST00000278360	ensembl	human	known	74_37	missense	SNP	0.993	A	A	35513631	G	A	35513631	3	1	14	1	0	0	0	0	1	0	0	0	11415	1319	46	2	1912	2	PAMR1	11	35513631	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09		35513631	99492885	24	1028											
OR5L1	219437	genome.wustl.edu	37	chr11	55579182	55579182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaataattgtgccaaaAatgttggctaatatctttaa	5	7	2	0	rs139708815	byFrequency	TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr11:55579182A>G	ENST00000333973.2	+	1	329	c.240A>G	c.(238-240)aaA>aaG	p.K80K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80K(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGTGCCAAAAATGTTGGCTA	0.458																																																	1	Substitution - coding silent(1)	pancreas(1)						ENSG00000186117						234	216	222					11																	55579182		2200	4296	6496	OR5L1	SO:0001819	synonymous_variant	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.240A>G	11.37:g.55579182A>G		Somatic	0	82	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	99	9.17	B2RNK6|Q6IFD0	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K80	ENST00000333973.2	37	c.240	CCDS31509.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	A	NM_001004738	rs139708815		55579182	1	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	SNP	0.000	G	G	55579182	A	G	55579182	2	3	14	1	0	0	0	0	0	0	0	1	11172	11	1	5		5	OR5L1	11	55579182	Silent	SNP	A	TCGA-3B-A9HZ-01A-11D-A38Z-09	20065551	55579182	79427334	25	1029											
NUMA1	4926	genome.wustl.edu	37	chr11	71746965	71746965	+	Frame_Shift_Del	DEL	C	C	-													tacccaagagaggagtgcagCcccccgggtggcgtggagtg							TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr11:71746965delC	ENST00000393695.3	-	3	356	c.25delG	c.(25-27)gctfs	p.A10fs	NUMA1_ENST00000351960.6_Frame_Shift_Del_p.A10fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.A10fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											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						AGGAGTGCAGCCCCCCGGGTG	0.502			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0								ENSG00000137497						93	94	93					11																	71746965		2200	4293	6493	NUMA1	SO:0001589	frameshift_variant	0				HGNC	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.25delG	11.37:g.71746965delC	ENSP00000377298:p.Ala10fs	Somatic	0	37	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00		Frame_Shift_Del	DEL							superfamily_Prefoldin	p.A9fs	ENST00000393695.3	37	c.25	CCDS31633.1	11																																																																																			-	NULL		0.502	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	protein_coding	OTTHUMT00000395769.1	C				71746965	-1	no_errors	ENST00000393695	ensembl	human	known	74_37	frame_shift_del	DEL	0.393	-	-	71746965	C	-	71746965	7	5	14	1	0	1	0	1	0	0	0	0	10752	739	26	0	6422	0	NUMA1	11	71746965	Frame_Shift_Del	DEL	C	TCGA-3B-A9HZ-01A-11D-A38Z-09	16167783	71746965	63259551	26	1030											
CD163	9332	genome.wustl.edu	37	chr12	7636086	7636086	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcattgagccatatcggtcCagtcccctgaccaaactctg	7	14	2	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr12:7636086C>A	ENST00000359156.4	-	12	3167	c.2965G>T	c.(2965-2967)Gga>Tga	p.G989*	CD163_ENST00000541972.1_Nonsense_Mutation_p.G977*|CD163_ENST00000396620.3_Nonsense_Mutation_p.G1022*|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Nonsense_Mutation_p.G989*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	989	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CATATCGGTCCAGTCCCCTGA	0.517																																																	0								ENSG00000177575						163	132	142					12																	7636086		2203	4300	6503	CD163	SO:0001587	stop_gained	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2965G>T	12.37:g.7636086C>A	ENSP00000352071:p.Gly989*	Somatic	0	19	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	28.12	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G989*	ENST00000359156.4	37	c.2965	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.521248	0.99193	.	.	ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.4	4.51	0.55191	.	0.169230	0.42053	D	0.000778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.6796	0.62476	0.1556:0.8444:0.0:0.0	.	.	.	.	X	989;29;977;1022;989	.	ENSP00000352071:G989X	G	-	1	0	CD163	7527353	1.000000	0.71417	0.361000	0.25849	0.992000	0.81027	7.782000	0.85680	1.413000	0.46997	0.555000	0.69702	GGA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416	-		7636086	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	SNP	0.948	A	A	7636086	C	A	7636086	4	1	14	1	0	0	0	0	0	1	0	0	2969	603	21	3	525	3	CD163	12	7636086	Nonsense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		7636086	126215809	27	1031											
RFX7	64864	genome.wustl.edu	37	chr15	56535479	56535479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctgttgttgttcctctGccatcgctgcagaggggtgg	16	10	1	1			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr15:56535479G>A	ENST00000423270.1	-	1	4	c.5C>T	c.(4-6)gCa>gTa	p.A2V	RFX7_ENST00000559447.2_5'Flank|RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.A2V	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTTCCTCTGCCATCGCTGC	0.692																																																	0								ENSG00000181827						9	11	10					15																	56535479		1822	3966	5788	RFX7	SO:0001583	missense	0			-	HGNC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.5C>T	15.37:g.56535479G>A	ENSP00000397644:p.Ala2Val	Somatic	0	48	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	49	25.76	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP							pfam_DNA-bd_RFX	p.A2V	ENST00000423270.1	37	c.5		15	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689689	0.68271	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.56103	0.48;0.49	2.86	2.86	0.33363	.	.	.	.	.	T	0.62636	0.2444	.	.	.	0.41956	D	0.990686	.	.	.	.	.	.	T	0.68112	-0.5495	6	0.87932	D	0	.	11.4803	0.50322	0.0:0.0:1.0:0.0	.	.	.	.	V	2	ENSP00000313299:A2V;ENSP00000397644:A2V	ENSP00000313299:A2V	A	-	2	0	RFX7	54322771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.682000	0.61671	1.610000	0.50200	0.460000	0.39030	GCA	-	NULL		0.692	RFX7-203	KNOWN	basic|appris_principal	protein_coding	RFX7	protein_coding		G	NM_022841	-		56535479	-1	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56535479	G	A	56535479	3	1	14	1	0	0	0	0	1	0	0	0	13276	1319	46	2	4413	2	RFX7	15	56535479	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09		56535479	45995913	28	1032											
C16orf62	57020	genome.wustl.edu	37	chr16	19663381	19663381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctacctgcattctggtcaGgtggccttggccaaccagtg	11	13	3	0			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr16:19663381G>T	ENST00000251143.5	+	26	2202	c.2190G>T	c.(2188-2190)caG>caT	p.Q730H	C16orf62_ENST00000543152.1_Missense_Mutation_p.Q479H|C16orf62_ENST00000448695.1_Missense_Mutation_p.Q580H|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000438132.3_Missense_Mutation_p.Q819H|C16orf62_ENST00000417362.2_Missense_Mutation_p.Q637H|C16orf62_ENST00000542263.1_Missense_Mutation_p.Q726H			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	730						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATTCTGGTCAGGTGGCCTTGG	0.547																																																	0								ENSG00000103544						139	100	114					16																	19663381		2197	4300	6497	C16orf62	SO:0001583	missense	0			-	HGNC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2190G>T	16.37:g.19663381G>T	ENSP00000251143:p.Gln730His	Somatic	0	44	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP							NULL	p.Q819H	ENST00000251143.5	37	c.2457		16	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689429	0.88735	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.80764	0.991;0.994	T	0.67791	-0.5579	9	.	.	.	-29.6481	18.0345	0.89296	0.0:0.0:1.0:0.0	.	726;730	F5H7K1;Q7Z3J2	.;CP062_HUMAN	H	819;726;730;637;580	ENSP00000400815:Q819H;ENSP00000442468:Q726H;ENSP00000251143:Q730H;ENSP00000395973:Q637H;ENSP00000398009:Q580H	.	Q	+	3	2	C16orf62	19570882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.063000	0.71162	2.865000	0.98341	0.655000	0.94253	CAG	-	NULL		0.547	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	protein_coding		G	NM_020314	-		19663381	1	no_errors	ENST00000438132	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19663381	G	T	19663381	3	4	14	1	0	0	0	0	1	0	0	0	1827	991	35	3	2292	3	C16orf62	16	19663381	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09		19663381	70691372	29	1033											
USP31	57478	genome.wustl.edu	37	chr16	23119385	23119387	+	In_Frame_Del	DEL	ACT	ACT	-													accttcagaggaggctggccActctgcttcactgaatggtt					rs551845061		TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	ACT	ACT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr16:23119385_23119387delACT	ENST00000219689.7	-	2	750_752	c.751_753delAGT	c.(751-753)agtdel	p.S251del		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	201	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGGCTGGCCACTCTGCTTCACT	0.527																																																	0								ENSG00000103404																																			USP31	SO:0001651	inframe_deletion	0				HGNC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.751_753delAGT	16.37:g.23119385_23119387delACT	ENSP00000219689:p.Ser251del	Somatic	0	52	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	In_Frame_Del	DEL							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S251in_frame_del	ENST00000219689.7	37	c.753_751	CCDS10607.1	16																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.527	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	protein_coding	OTTHUMT00000211607.1	ACT	NM_020718			23119387	-1	no_errors	ENST00000219689	ensembl	human	known	74_37	in_frame_del	DEL	0.614:0.991:0.997	-	-	23119387	ACT	-	23119385	7	5	14	1	0	1	0	1	0	0	0	0	17069	156	6	0	3365	0	USP31	16	23119385	In_Frame_Del	DEL	ACT	TCGA-3B-A9HZ-01A-11D-A38Z-09	3456004	23119385	67235368	30	1034											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53691422	53691422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtttcttgtcttttccagCtcttgcaccgtttctgcatg	7	11	4	0			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr16:53691422C>T	ENST00000379925.3	-	13	1574	c.1524G>A	c.(1522-1524)gaG>gaA	p.E508E	RPGRIP1L_ENST00000262135.4_Silent_p.E508E|RPGRIP1L_ENST00000564374.1_Silent_p.E508E|RPGRIP1L_ENST00000563746.1_Silent_p.E508E	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	508					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTTTTCCAGCTCTTGCACCG	0.333																																																	0								ENSG00000103494						94	86	88					16																	53691422		2196	4300	6496	RPGRIP1L	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1524G>A	16.37:g.53691422C>T		Somatic	0	73	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	37	47.89	A0PJ88|Q9Y2K8	Silent	SNP							pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E508	ENST00000379925.3	37	c.1524	CCDS32447.1	16																																																																																			-	NULL		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	protein_coding	OTTHUMT00000422187.1	C	NM_015272	-		53691422	-1	no_errors	ENST00000379925	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53691422	C	T	53691422	2	4	14	1	0	0	0	0	0	0	0	1	13558	796	28	2		2	RPGRIP1L	16	53691422	Silent	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09	30572037	53691422	36663331	31	1035											
TP53	7157	genome.wustl.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	9	15	2	0			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		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). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(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)	AGGACAGGCACAAACACGCAC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M		ENSG00000141510						71	61	64					17																	7577114		2203	4300	6503	TP53	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;	-	HGNC	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr	Somatic	0	37	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	17	48.48	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275Y	ENST00000269305.4	37	c.824	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577114	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577114	C	T	7577114	3	4	14	1	0	0	0	0	1	0	0	0	16388	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		7577114	73618096	32	1036											
TMEM101	84336	genome.wustl.edu	37	chr17	42089353	42089353	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgcccacactctctccaagGagcttcatctggttccagaa	7	14	3	1			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr17:42089353G>T	ENST00000589334.1	-	5	1032	c.717C>A	c.(715-717)ctC>ctA	p.L239L	TMEM101_ENST00000206380.3_Silent_p.L239L|TMEM101_ENST00000542039.1_Silent_p.L181L			Q96IK0	TM101_HUMAN	transmembrane protein 101	239					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTCTCCAAGGAGCTTCATCT	0.552																																																	0								ENSG00000091947						100	87	91					17																	42089353		2203	4300	6503	TMEM101	SO:0001819	synonymous_variant	0			-	HGNC	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.717C>A	17.37:g.42089353G>T		Somatic	0	31	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B2R9N6	Silent	SNP							NULL	p.L239	ENST00000589334.1	37	c.717	CCDS11474.1	17																																																																																			-	NULL		0.552	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	protein_coding	OTTHUMT00000457665.1	G	NM_032376	-		42089353	-1	no_errors	ENST00000206380	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42089353	G	T	42089353	2	4	14	1	0	0	0	0	0	0	0	1	16023	1161	41	3		3	TMEM101	17	42089353	Silent	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	34512239	42089353	39105857	33	1037											
CEP192	55125	genome.wustl.edu	37	chr18	13056253	13056253	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctcatcagaccacctctGaaaaccagtgtactcctatt	4	13	3	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr18:13056253G>A	ENST00000325971.8	+	17	3469	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	CEP192_ENST00000506447.1_Missense_Mutation_p.E1222K|CEP192_ENST00000430049.2_Missense_Mutation_p.E747K			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	626					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACCACCTCTGAAAACCAGTG	0.502																																																	0								ENSG00000101639						64	61	62					18																	13056253		2203	4300	6503	CEP192	SO:0001583	missense	0			-	HGNC	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1876G>A	18.37:g.13056253G>A	ENSP00000317156:p.Glu626Lys	Somatic	0	20	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP							NULL	p.E1222K	ENST00000325971.8	37	c.3664		18	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664458	0.29604	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.05580	3.42;3.42;3.42	5.11	-0.336	0.12658	.	1.131130	0.06761	N	0.781855	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B;B	0.22003	0.014;0.063;0.063	B;B;B	0.21917	0.01;0.037;0.023	T	0.47611	-0.9104	10	0.11485	T	0.65	-0.2974	4.3179	0.11002	0.2903:0.0:0.4611:0.2486	.	747;1222;626	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	K	1222;626;626;747	ENSP00000427550:E1222K;ENSP00000317156:E626K;ENSP00000389190:E747K	ENSP00000317156:E626K	E	+	1	0	CEP192	13046253	0.002000	0.14202	0.000000	0.03702	0.061000	0.15899	1.152000	0.31663	0.160000	0.19432	0.563000	0.77884	GAA	-	NULL		0.502	CEP192-201	KNOWN	basic	protein_coding	CEP192	protein_coding		G	NM_032142	-		13056253	1	no_errors	ENST00000506447	ensembl	human	known	74_37	missense	SNP	0.000	A	A	13056253	G	A	13056253	3	1	14	1	0	0	0	0	1	0	0	0	3253	1291	45	2	3734	2	CEP192	18	13056253	Missense_Mutation	SNP	G	TCGA-3B-A9HZ-01A-11D-A38Z-09		13056253	65020995	34	1038											
C19orf28	126321	genome.wustl.edu	37	chr19	3557210	3557212	+	In_Frame_Del	DEL	CAG	CAG	-													agcccgtcggccacctggccCagcagcagcagcagccccgc							TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr19:3557210_3557212delCAG	ENST00000355415.2	-	1	359_361	c.190_192delCTG	c.(190-192)ctgdel	p.L64del	MFSD12_ENST00000398558.4_In_Frame_Del_p.L64del|MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000389395.3_In_Frame_Del_p.L64del|AC005786.7_ENST00000589360.1_RNA|AC005786.5_ENST00000592368.1_lincRNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	64					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCACCTGGCCCAGCAGCAGCAGC	0.729																																																	0								ENSG00000161091		,,	218,3538		76,66,1736					,,	3.8	1			13	721,7105		240,241,3432	no	coding,coding,coding	C19orf28	NM_174983.3,NM_021731.2,NM_001042680.1	,,	316,307,5168	A1A1,A1R,RR		9.2129,5.804,8.1074	,,	,,		939,10643				MFSD12	SO:0001651	inframe_deletion	0				HGNC	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.190_192delCTG	19.37:g.3557219_3557221delCAG	ENSP00000347583:p.Leu64del	Somatic	0	22	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A8MXP7|D6W615|E9PAJ8|Q8N459	In_Frame_Del	DEL							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L64in_frame_del	ENST00000355415.2	37	c.192_190	CCDS42465.1	19																																																																																			-	superfamily_MFS_dom_general_subst_transpt		0.729	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	protein_coding	OTTHUMT00000452949.2	CAG	NM_174983			3557212	-1	no_errors	ENST00000398558	ensembl	human	known	74_37	in_frame_del	DEL	0.647:0.925:0.999	-	-	3557212	CAG	-	3557210	7	5	14	1	0	1	0	1	0	0	0	0	1919	581	21	0	1497	0	C19orf28	19	3557210	In_Frame_Del	DEL	CAG	TCGA-3B-A9HZ-01A-11D-A38Z-09		3557210	55571773	35	1039											
CARM1	10498	genome.wustl.edu	37	chr19	11031206	11031206	+	Frame_Shift_Del	DEL	G	G	-													caccactgttcgccaaggcaGgggacacgctctcagggaca							TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr19:11031206delG	ENST00000327064.4	+	11	1481	c.1291delG	c.(1291-1293)gggfs	p.G431fs	CARM1_ENST00000344150.4_Frame_Shift_Del_p.G431fs	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	431	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CGCCAAGGCAGGGGACACGCT	0.627																																																	0								ENSG00000142453						113	96	102					19																	11031206		2203	4300	6503	CARM1	SO:0001589	frameshift_variant	0				HGNC	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1291delG	19.37:g.11031206delG	ENSP00000325690:p.Gly431fs	Somatic	0	50	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	A6NN38	Frame_Shift_Del	DEL							pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11	p.D432fs	ENST00000327064.4	37	c.1291	CCDS12250.1	19																																																																																			-	pfam_Arg_MeTrfase		0.627	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	protein_coding	OTTHUMT00000452625.1	G	XM_032719			11031206	1	no_errors	ENST00000327064	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	11031206	G	-	11031206	7	5	14	1	0	1	0	1	0	0	0	0	2657	1000	35	0	1333	0	CARM1	19	11031206	Frame_Shift_Del	DEL	G	TCGA-3B-A9HZ-01A-11D-A38Z-09	7473996	11031206	48097777	36	1040											
CCDC105	126402	genome.wustl.edu	37	chr19	15132444	15132444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaagattaaatatgaCgttaggactgatgaggggaa	13	4	0	4			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr19:15132444C>T	ENST00000292574.3	+	5	1140	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	353						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TTAAATATGACGTTAGGACTG	0.592																																																	0								ENSG00000160994						78	78	78					19																	15132444		2203	4300	6503	CCDC105	SO:0001583	missense	0			-	HGNC	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1058C>T	19.37:g.15132444C>T	ENSP00000292574:p.Thr353Met	Somatic	0	113	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	81	31.93	Q8N7T5|Q8NDL5	Missense_Mutation	SNP							pfam_Tektin	p.T353M	ENST00000292574.3	37	c.1058	CCDS12322.1	19	.	.	.	.	.	.	.	.	.	.	C	2.274	-0.366303	0.05069	.	.	ENSG00000160994	ENST00000292574	T	0.02552	4.25	3.91	1.58	0.23477	.	0.399455	0.20332	N	0.094408	T	0.02304	0.0071	L	0.46157	1.445	0.21878	N	0.999492	P	0.34977	0.478	B	0.25614	0.062	T	0.44483	-0.9325	10	0.42905	T	0.14	-14.287	4.1428	0.10201	0.0:0.5727:0.2831:0.1442	.	353	Q8IYK2	CC105_HUMAN	M	353	ENSP00000292574:T353M	ENSP00000292574:T353M	T	+	2	0	CCDC105	14993444	0.110000	0.22057	0.677000	0.29947	0.002000	0.02628	0.304000	0.19228	0.846000	0.35142	-0.332000	0.08345	ACG	-	pfam_Tektin		0.592	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	protein_coding	OTTHUMT00000466293.1	C	NM_173482	-		15132444	1	no_errors	ENST00000292574	ensembl	human	known	74_37	missense	SNP	0.484	T	T	15132444	C	T	15132444	3	4	14	1	0	0	0	0	1	0	0	0	2742	536	19	1	1076	1	CCDC105	19	15132444	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09	4101238	15132444	43996539	37	1041											
SEMG1	6406	genome.wustl.edu	37	chr20	43836987	43836987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaataaaatatcataccaatCttcaagtacggaagaaagac	5	7	3	2			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr20:43836987C>G	ENST00000372781.3	+	2	1106	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	SEMG1_ENST00000244069.6_Missense_Mutation_p.S290C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	350	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCATACCAATCTTCAAGTACG	0.398																																																	0								ENSG00000124233						82	75	78					20																	43836987		2203	4300	6503	SEMG1	SO:0001583	missense	0			-	HGNC		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1049C>G	20.37:g.43836987C>G	ENSP00000361867:p.Ser350Cys	Somatic	0	48	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	53	26.39	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP							pfam_Semenogelin	p.S350C	ENST00000372781.3	37	c.1049	CCDS13345.1	20	.	.	.	.	.	.	.	.	.	.	C	0.156	-1.085945	0.01873	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.11821	2.86;2.74	1.13	-2.26	0.06867	.	.	.	.	.	T	0.23965	0.0580	L	0.58302	1.8	0.09310	N	1	B;D	0.76494	0.002;0.999	B;D	0.79784	0.004;0.993	T	0.10042	-1.0647	9	0.36615	T	0.2	.	3.4631	0.07540	0.3423:0.4393:0.2184:0.0	.	290;350	P04279-2;P04279	.;SEMG1_HUMAN	C	290;350	ENSP00000244069:S290C;ENSP00000361867:S350C	ENSP00000244069:S290C	S	+	2	0	SEMG1	43270401	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.482000	0.06544	-1.714000	0.01390	-0.714000	0.03626	TCT	-	pfam_Semenogelin		0.398	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	protein_coding	OTTHUMT00000079416.3	C	NM_003007	-		43836987	1	no_errors	ENST00000372781	ensembl	human	known	74_37	missense	SNP	0.000	G	G	43836987	C	G	43836987	3	3	14	1	0	0	0	0	1	0	0	0	14052	913	32	4	1055	4	SEMG1	20	43836987	Missense_Mutation	SNP	C	TCGA-3B-A9HZ-01A-11D-A38Z-09		43836987	19188533	38	1042											
ATF4	468	genome.wustl.edu	37	chr22	39917546	39917546	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgaagaaagcctaggTctcttagatgattacctgga	13	7	1	4			TCGA-3B-A9HZ-01A-11D-A38Z-09	TCGA-3B-A9HZ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a78893-3edf-442b-ac7b-78d969165f30	fd3defe6-b6ae-4755-85f4-80f2321a7c99	g.chr22:39917546T>G	ENST00000337304.2	+	1	978	c.96T>G	c.(94-96)ggT>ggG	p.G32G	ATF4_ENST00000404241.2_Silent_p.G32G|ATF4_ENST00000396680.1_Silent_p.G32G	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	32					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|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)|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)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AAAGCCTAGGTCTCTTAGATG	0.567																																																	0								ENSG00000128272						64	64	64					22																	39917546		2203	4300	6503	ATF4	SO:0001819	synonymous_variant	0			-	HGNC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.96T>G	22.37:g.39917546T>G		Somatic	0	75	0		0.591049977649901				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	Q9UH31	Silent	SNP							pfam_bZIP,smart_bZIP,pfscan_bZIP	p.G32	ENST00000337304.2	37	c.96	CCDS13996.1	22																																																																																			-	NULL		0.567	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	protein_coding	OTTHUMT00000321305.1	T	NM_001675	-		39917546	1	no_errors	ENST00000337304	ensembl	human	known	74_37	silent	SNP	1.000	G	G	39917546	T	G	39917546	2	3	14	1	0	0	0	0	0	0	0	1	1082	1654	58	5		5	ATF4	22	39917546	Silent	SNP	T	TCGA-3B-A9HZ-01A-11D-A38Z-09		39917546	11387020	39	1043											
TMEM51	55092	genome.wustl.edu	37	chr1	15541908	15541908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccgacaggcgctgggcctCacgcccaggaggaagacagg	15	14	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:15541908C>T	ENST00000428417.1	+	2	771	c.325C>T	c.(325-327)Cac>Tac	p.H109Y	TMEM51_ENST00000434578.2_Missense_Mutation_p.H109Y|TMEM51_ENST00000376014.3_Missense_Mutation_p.H109Y|TMEM51_ENST00000376008.2_Missense_Mutation_p.H109Y|TMEM51_ENST00000400796.3_Missense_Mutation_p.H109Y	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	109						integral component of membrane (GO:0016021)		p.H109D(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CGCTGGGCCTCACGCCCAGGA	0.632																																																	1	Substitution - Missense(1)	cervix(1)						ENSG00000171729						26	23	24					1																	15541908		2201	4298	6499	TMEM51	SO:0001583	missense	0			-	HGNC	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.325C>T	1.37:g.15541908C>T	ENSP00000394899:p.His109Tyr	Somatic	0	110	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	32	46.67	A8K819	Missense_Mutation	SNP							NULL	p.H109Y	ENST00000428417.1	37	c.325	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.212839	0.00289	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.25	5.25	0.73442	.	1.366400	0.03980	N	0.293048	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	P;B	0.41041	0.736;0.168	B;B	0.34652	0.187;0.086	T	0.10800	-1.0614	10	0.02654	T	1	-11.4259	9.309	0.37891	0.0:0.8974:0.0:0.1026	.	109;109	Q9BSA0;Q9NW97	.;TMM51_HUMAN	Y	109	ENSP00000394899:H109Y;ENSP00000365182:H109Y;ENSP00000412298:H109Y;ENSP00000409665:H109Y;ENSP00000383600:H109Y;ENSP00000365176:H109Y	ENSP00000303666:H109Y	H	+	1	0	TMEM51	15414495	0.013000	0.17824	0.004000	0.12327	0.062000	0.15995	2.562000	0.45914	2.462000	0.83206	0.655000	0.94253	CAC	-	NULL		0.632	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	protein_coding	OTTHUMT00000005699.3	C	NM_018022	-		15541908	1	no_errors	ENST00000376008	ensembl	human	known	74_37	missense	SNP	0.002	T	T	15541908	C	T	15541908	3	4	15	1	0	0	0	0	1	0	0	0	16184	826	29	2	327	2	TMEM51	1	15541908	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		15541908	233708713	1	1044											
DMRTB1	63948	genome.wustl.edu	37	chr1	53925373	53925374	+	In_Frame_Ins	INS	-	-	CCGCCC													ggcctccggggctgcggccgINSccgcccccgcccccgtcccc					rs558152882|rs575081928	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:53925373_53925374insCCGCCC	ENST00000371445.3	+	1	302_303	c.247_248insCCGCCC	c.(247-249)gcc>gCCGCCCcc	p.87_88insAP		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	87	Pro-rich.				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)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GGCTGCGgccgccgcccccgcc	0.807														538	0.107428	0.034	0.0893	5008	,	,		6054	0.1567		0.1233	False		,,,				2504	0.1524																0								ENSG00000143006																																			DMRTB1	SO:0001652	inframe_insertion	0				HGNC	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.254_259dupCCGCCC	1.37:g.53925374_53925379dupCCGCCC	ENSP00000360500:p.Ala86_Pro87dup	Somatic					0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96SD2	In_Frame_Ins	INS							pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.87in_frame_insPA	ENST00000371445.3	37	c.247_248	CCDS581.1	1																																																																																			-	NULL		0.807	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTB1	protein_coding	OTTHUMT00000022110.1	-				53925374	1	no_errors	ENST00000371445	ensembl	human	known	74_37	in_frame_ins	INS	0.002:0.001	CCGCCC	CCGCCC	53925374	-	CCGCCC	53925373	7	5	15	1	0	1	1	0	0	0	0	0	4592	1087	38	0	249	0	DMRTB1	1	53925373	In_Frame_Ins	INS	-	TCGA-3B-A9I0-01A-11D-A38Z-09	38383465	53925373	195325248	2	1045											
CTH	1491	genome.wustl.edu	37	chr1	70877126	70877126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagacgcctcctcacaaGgtttcctgccacacttccaa	5	15	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:70877126G>T	ENST00000370938.3	+	1	172	c.28G>T	c.(28-30)Ggt>Tgt	p.G10C	CTH_ENST00000464926.1_3'UTR|CTH_ENST00000411986.2_Missense_Mutation_p.G10C|CTH_ENST00000346806.2_Missense_Mutation_p.G10C	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTCCTCACAAGGTTTCCTGCC	0.552																																																	0								ENSG00000116761						113	122	119					1																	70877126		2203	4300	6503	CTH	SO:0001583	missense	0			-	HGNC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.28G>T	1.37:g.70877126G>T	ENSP00000359976:p.Gly10Cys	Somatic	0	66	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O95791|Q9NX42	Missense_Mutation	SNP							pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz	p.G10C	ENST00000370938.3	37	c.28	CCDS650.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674111	0.88445	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	T;T;T	0.73575	-0.76;-0.71;-0.74	5.29	5.29	0.74685	.	0.103423	0.64402	D	0.000003	T	0.77525	0.4143	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.80006	-0.1563	10	0.87932	D	0	-1.3515	17.8681	0.88801	0.0:0.0:1.0:0.0	.	10;10;10	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	C	10	ENSP00000413407:G10C;ENSP00000359976:G10C;ENSP00000311554:G10C	ENSP00000311554:G10C	G	+	1	0	CTH	70649714	1.000000	0.71417	0.195000	0.23364	0.028000	0.11728	6.804000	0.75186	2.756000	0.94617	0.561000	0.74099	GGT	-	NULL		0.552	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTH	protein_coding	OTTHUMT00000025918.1	G	NM_001902	-		70877126	1	no_errors	ENST00000370938	ensembl	human	known	74_37	missense	SNP	0.996	T	T	70877126	G	T	70877126	3	4	15	1	0	0	0	0	1	0	0	0	4011	1000	35	3	30	3	CTH	1	70877126	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	16951753	70877126	178373495	3	1046											
BCAR3	8412	genome.wustl.edu	37	chr1	94037299	94037299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaatccttcagttccacCgccacctggatgatcttact	7	13	2	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:94037299C>T	ENST00000370244.1	-	11	2190	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	BCAR3_ENST00000370243.1_Silent_p.A634A|BCAR3_ENST00000370247.3_Silent_p.A543A|BCAR3_ENST00000260502.6_Silent_p.A634A|BCAR3_ENST00000539242.1_Silent_p.A310A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	634	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		TCAGTTCCACCGCCACCTGGA	0.507																																																	0								ENSG00000137936						106	104	105					1																	94037299		2203	4300	6503	BCAR3	SO:0001819	synonymous_variant	0			-	HGNC	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.1902G>A	1.37:g.94037299C>T		Somatic	0	26	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP							pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.A634	ENST00000370244.1	37	c.1902	CCDS745.1	1																																																																																			-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.507	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	protein_coding	OTTHUMT00000028420.1	C		-		94037299	-1	no_errors	ENST00000260502	ensembl	human	known	74_37	silent	SNP	0.000	T	T	94037299	C	T	94037299	2	4	15	1	0	0	0	0	0	0	0	1	1349	639	23	1		1	BCAR3	1	94037299	Silent	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	23160173	94037299	155213322	4	1047											
DPT	1805	genome.wustl.edu	37	chr1	168698150	168698150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcccaccagcactccGtgggttccccgaggctctgt	9	18	2	0	rs200918644		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr1:168698150G>A	ENST00000367817.3	-	1	352	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	88	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCAGCACTCCGTGGGTTCCCC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		21170	0		0	False		,,,				2504	0																0								ENSG00000143196	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	134	112	119		263	5	0.8	1		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPT	NM_001937.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	88/202	168698150	2,13004	2203	4300	6503	DPT	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.263C>T	1.37:g.168698150G>A	ENSP00000356791:p.Thr88Met	Somatic	0	48	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP							NULL	p.T88M	ENST00000367817.3	37	c.263	CCDS1275.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.75	3.690795	0.68271	2.27E-4	1.16E-4	ENSG00000143196	ENST00000367817	T	0.50277	0.75	5.0	5.0	0.66597	.	0.262117	0.41712	D	0.000821	T	0.49626	0.1568	L	0.51422	1.61	0.40742	D	0.982842	D	0.65815	0.995	P	0.55785	0.784	T	0.54918	-0.8221	9	0.62326	D	0.03	-19.5449	17.894	0.88881	0.0:0.0:1.0:0.0	.	88	Q07507	DERM_HUMAN	M	88	ENSP00000356791:T88M	ENSP00000356791:T88M	T	-	2	0	DPT	166964774	1.000000	0.71417	0.839000	0.33178	0.997000	0.91878	4.781000	0.62389	2.293000	0.77203	0.655000	0.94253	ACG	-	NULL		0.587	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	protein_coding	OTTHUMT00000083618.1	G	NM_001937	rs200918644		168698150	-1	no_errors	ENST00000367817	ensembl	human	known	74_37	missense	SNP	0.808	A	A	168698150	G	A	168698150	3	1	15	1	0	0	0	0	1	0	0	0	4741	1145	40	1	358	1	DPT	1	168698150	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	74660851	168698150	80552471	5	1048											
DPP10	57628	genome.wustl.edu	37	chr2	116510794	116510794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggtaagcaataccaagaCtgtggtaagatggttaaacc	11	6	0	2			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr2:116510794C>A	ENST00000410059.1	+	11	1475	c.995C>A	c.(994-996)aCt>aAt	p.T332N	DPP10_ENST00000393147.2_Missense_Mutation_p.T336N|DPP10_ENST00000310323.8_Missense_Mutation_p.T325N|DPP10_ENST00000409163.1_Missense_Mutation_p.T282N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	332						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATACCAAGACTGTGGTAAGA	0.358																																																	0								ENSG00000175497						120	106	111					2																	116510794		2203	4300	6503	DPP10	SO:0001583	missense	0			-	HGNC	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.995C>A	2.37:g.116510794C>A	ENSP00000386565:p.Thr332Asn	Somatic	0	62	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	91	9.00	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T336N	ENST00000410059.1	37	c.1007	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775007	0.49786	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.1	4.23	0.50019	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.176474	0.49305	D	0.000159	T	0.31358	0.0794	L	0.44542	1.39	0.40509	D	0.980725	B;P;B;B	0.46512	0.244;0.879;0.408;0.288	B;P;B;B	0.44623	0.162;0.455;0.251;0.251	T	0.18681	-1.0329	10	0.87932	D	0	-29.0265	12.7723	0.57427	0.0:0.9215:0.0:0.0785	.	325;336;328;332	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	332;282;336;325;282	ENSP00000386565:T332N;ENSP00000387038:T282N;ENSP00000376855:T336N;ENSP00000309066:T325N	ENSP00000309066:T325N	T	+	2	0	DPP10	116227264	1.000000	0.71417	0.900000	0.35374	0.986000	0.74619	4.485000	0.60279	1.386000	0.46466	0.650000	0.86243	ACT	-	pfam_Peptidase_S9B		0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	C	NM_020868	-		116510794	1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	SNP	0.969	A	A	116510794	C	A	116510794	3	1	15	1	0	0	0	0	1	0	0	0	4729	565	20	3	1208	3	DPP10	2	116510794	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		116510794	126688579	6	1049											
GMPPA	29926	genome.wustl.edu	37	chr2	220371044	220371044	+	Frame_Shift_Del	DEL	G	G	-													ggacgctgggcccgcgtggaGggtacccccagtgaccctaa							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr2:220371044delG	ENST00000358215.3	+	12	1431	c.1062delG	c.(1060-1062)gagfs	p.E354fs	GMPPA_ENST00000373917.3_Frame_Shift_Del_p.E407fs|GMPPA_ENST00000341142.3_Frame_Shift_Del_p.E354fs|GMPPA_ENST00000373908.1_Frame_Shift_Del_p.E354fs|GMPPA_ENST00000313597.5_Frame_Shift_Del_p.E354fs|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	354					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCCGCGTGGAGGGTACCCCCA	0.622																																																	0								ENSG00000144591						69	70	70					2																	220371044		2203	4300	6503	GMPPA	SO:0001589	frameshift_variant	0				HGNC	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1062delG	2.37:g.220371044delG	ENSP00000350949:p.Glu354fs	Somatic	0	49	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Frame_Shift_Del	DEL							pfam_NTP_transferase	p.G355fs	ENST00000358215.3	37	c.1062	CCDS2441.1	2																																																																																			-	NULL		0.622	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPPA	protein_coding	OTTHUMT00000130230.1	G	NM_013335			220371044	1	no_errors	ENST00000313597	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	220371044	G	-	220371044	7	5	15	1	0	1	0	1	0	0	0	0	6496	991	35	0	1104	0	GMPPA	2	220371044	Frame_Shift_Del	DEL	G	TCGA-3B-A9I0-01A-11D-A38Z-09	103860250	220371044	22828329	7	1050											
RHO	6010	genome.wustl.edu	37	chr3	129247673	129247673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acccacagtactacctggctGagccatggcagttctccatg	9	14	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr3:129247673G>A	ENST00000296271.3	+	1	191	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	33					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTACCTGGCTGAGCCATGGCA	0.572																																					Esophageal Squamous(118;214 1623 30842 43234 46940)												0								ENSG00000163914						175	138	150					3																	129247673		2203	4300	6503	RHO	SO:0001583	missense	0			-	HGNC	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.97G>A	3.37:g.129247673G>A	ENSP00000296271:p.Glu33Lys	Somatic	0	46	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	Q16414|Q2M249	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin	p.E33K	ENST00000296271.3	37	c.97	CCDS3063.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082588	0.76528	.	.	ENSG00000163914	ENST00000296271	D	0.94280	-3.39	5.52	5.52	0.82312	Rhodopsin, N-terminal (1);	0.219310	0.47455	D	0.000234	D	0.95121	0.8419	M	0.85197	2.74	0.49582	D	0.999806	B	0.32051	0.354	B	0.39562	0.303	D	0.94600	0.7795	10	0.59425	D	0.04	.	19.0381	0.92987	0.0:0.0:1.0:0.0	.	33	P08100	OPSD_HUMAN	K	33	ENSP00000296271:E33K	ENSP00000296271:E33K	E	+	1	0	RHO	130730363	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	6.814000	0.75236	2.609000	0.88269	0.591000	0.81541	GAG	-	pfam_Rhodopsin_N,prints_Rhodopsin		0.572	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	protein_coding	OTTHUMT00000356101.1	G	NM_000539	-		129247673	1	no_errors	ENST00000296271	ensembl	human	known	74_37	missense	SNP	0.999	A	A	129247673	G	A	129247673	3	1	15	1	0	0	0	0	1	0	0	0	13338	1291	45	2	99	2	RHO	3	129247673	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09		129247673	68774757	8	1051											
CTBP1	1487	genome.wustl.edu	37	chr4	1207368	1207368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagatgaggttgggtgCatccttcagagggccctggc	17	9	1	3			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr4:1207368C>T	ENST00000290921.6	-	7	1100	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CTBP1_ENST00000382952.3_Missense_Mutation_p.A296T	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	307	Interaction with GLIS2 2. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AGGTTGGGTGCATCCTTCAGA	0.632																																																	0								ENSG00000159692						83	68	73					4																	1207368		2203	4300	6503	CTBP1	SO:0001583	missense	0			-	HGNC	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.919G>A	4.37:g.1207368C>T	ENSP00000290921:p.Ala307Thr	Somatic	0	74	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.A307T	ENST00000290921.6	37	c.919	CCDS3348.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.815289|4.815289	0.90790|0.90790	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921|ENST00000503594;ENST00000504092	T;T|.	0.80480|.	-1.38;-1.38|.	4.34|4.34	4.34|4.34	0.51931|0.51931	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70509|0.70509	0.3232|0.3232	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	P;P|.	0.39520|.	0.676;0.5|.	B;B|.	0.37943|.	0.261;0.261|.	T|T	0.70425|0.70425	-0.4875|-0.4875	10|5	0.36615|.	T|.	0.2|.	-16.2935|-16.2935	16.8411|16.8411	0.85970|0.85970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	307;296|.	Q13363;Q7Z2Q5|.	CTBP1_HUMAN;.|.	T|Y	296;307|49;153	ENSP00000372411:A296T;ENSP00000290921:A307T|.	ENSP00000290921:A307T|.	A|C	-|-	1|2	0|0	CTBP1|CTBP1	1197368|1197368	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.653000|0.653000	0.38743|0.38743	7.072000|7.072000	0.76777|0.76777	1.972000|1.972000	0.57404|0.57404	0.591000|0.591000	0.81541|0.81541	GCA|TGC	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.632	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	protein_coding	OTTHUMT00000202938.1	C	NM_001328	-		1207368	-1	no_errors	ENST00000290921	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1207368	C	T	1207368	3	4	15	1	0	0	0	0	1	0	0	0	3999	710	25	2	415	2	CTBP1	4	1207368	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		1207368	189946908	9	1052											
SPATA5	166378	genome.wustl.edu	37	chr4	123848873	123848873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcaaatatatgtatagGtcgaccagtgttgcttacta	9	7	1	0			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr4:123848873G>T	ENST00000274008.4	+	2	317	c.248G>T	c.(247-249)gGt>gTt	p.G83V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	83					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATATGTATAGGTCGACCAGTG	0.343																																																	0								ENSG00000145375						130	128	128					4																	123848873		2203	4300	6503	SPATA5	SO:0001583	missense	0			-	HGNC	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.248G>T	4.37:g.123848873G>T	ENSP00000274008:p.Gly83Val	Somatic	0	27	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.G83V	ENST00000274008.4	37	c.248	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062413	0.76187	.	.	ENSG00000145375	ENST00000274008	D	0.94687	-3.49	4.38	4.38	0.52667	Aspartate decarboxylase-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96721	0.9532	10	0.87932	D	0	-19.2798	15.7091	0.77609	0.0:0.0:1.0:0.0	.	83;83	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	V	83	ENSP00000274008:G83V	ENSP00000274008:G83V	G	+	2	0	SPATA5	124068323	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.615000	0.83006	2.459000	0.83118	0.655000	0.94253	GGT	-	superfamily_Asp_de-COase-like_dom		0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	protein_coding	OTTHUMT00000256714.2	G	NM_145207	-		123848873	1	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123848873	G	T	123848873	3	4	15	1	0	0	0	0	1	0	0	0	15018	1261	44	3	254	3	SPATA5	4	123848873	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	122641505	123848873	67305403	10	1053											
BRD9	65980	genome.wustl.edu	37	chr5	891803	891805	+	In_Frame_Del	DEL	CTT	CTT	-													agatgcttctccttctcggaCttcttcttcttcttcttttt							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:891803_891805delCTT	ENST00000467963.1	-	2	383_385	c.217_219delAAG	c.(217-219)aagdel	p.K73del	BRD9_ENST00000435709.2_5'UTR|BRD9_ENST00000388890.4_5'Flank|BRD9_ENST00000323510.4_5'Flank|BRD9_ENST00000483173.1_In_Frame_Del_p.R21del|TRIP13_ENST00000166345.3_5'Flank	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	73	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCTTCTCGGActtcttcttcttc	0.547																																																	0								ENSG00000028310		,	4,2404		0,4,1200					,	0.7	0.8			98	16,4654		3,10,2322	no	coding,coding	BRD9	NM_023924.4,NM_001009877.2	,	3,14,3522	A1A1,A1R,RR		0.3426,0.1661,0.2826	,	,		20,7058				BRD9	SO:0001651	inframe_deletion	0				HGNC	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.217_219delAAG	5.37:g.891812_891814delCTT	ENSP00000419765:p.Lys73del	Somatic	0	94	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	In_Frame_Del	DEL							pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K73in_frame_del	ENST00000467963.1	37	c.219_217	CCDS34127.2	5																																																																																			-	NULL		0.547	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	protein_coding	OTTHUMT00000354113.1	CTT	NM_023924			891805	-1	no_errors	ENST00000467963	ensembl	human	known	74_37	in_frame_del	DEL	0.975:1.000:1.000	-	-	891805	CTT	-	891803	7	5	15	1	0	1	0	1	0	0	0	0	1509	565	20	0	1634	0	BRD9	5	891803	In_Frame_Del	DEL	CTT	TCGA-3B-A9I0-01A-11D-A38Z-09		891803	180023457	11	1054											
DHX29	54505	genome.wustl.edu	37	chr5	54586147	54586147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgcatccagcagttttGctgcaagatgtaagtacctt	8	9	0	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:54586147G>A	ENST00000251636.5	-	7	954	c.806C>T	c.(805-807)gCa>gTa	p.A269V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	269						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGCAGTTTTGCTGCAAGATG	0.348																																																	0								ENSG00000067248						82	77	79					5																	54586147		2203	4300	6503	DHX29	SO:0001583	missense	0			-	HGNC	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.806C>T	5.37:g.54586147G>A	ENSP00000251636:p.Ala269Val	Somatic	0	44	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	30	50.82	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A269V	ENST00000251636.5	37	c.806	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790714	0.70452	.	.	ENSG00000067248	ENST00000251636	T	0.46451	0.87	5.41	4.54	0.55810	.	0.308380	0.39759	N	0.001265	T	0.45736	0.1357	M	0.61703	1.905	0.41603	D	0.988869	P	0.50443	0.935	P	0.45829	0.494	T	0.46843	-0.9162	10	0.38643	T	0.18	.	14.2429	0.65969	0.0:0.283:0.717:0.0	.	269	Q7Z478	DHX29_HUMAN	V	269	ENSP00000251636:A269V	ENSP00000251636:A269V	A	-	2	0	DHX29	54621904	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	3.999000	0.57031	1.408000	0.46895	-0.156000	0.13503	GCA	-	NULL		0.348	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	protein_coding	OTTHUMT00000368532.1	G	NM_019030	-		54586147	-1	no_errors	ENST00000251636	ensembl	human	known	74_37	missense	SNP	0.998	A	A	54586147	G	A	54586147	3	1	15	1	0	0	0	0	1	0	0	0	4505	1319	46	2	3387	2	DHX29	5	54586147	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	53694344	54586147	126329113	12	1055											
PCDHGA9	56107	genome.wustl.edu	37	chr5	140783160	140783160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacctggtcctcacggCctcggatggcggcgagccgc	13	18	1	0			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:140783160C>T	ENST00000573521.1	+	1	641	c.641C>T	c.(640-642)gCc>gTc	p.A214V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	214	Cadherin 2. {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)			GTCCTCACGGCCTCGGATGGC	0.592																																																	0								ENSG00000261934						29	34	32					5																	140783160		2047	4184	6231	PCDHGA9	SO:0001583	missense	0			-	HGNC	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.641C>T	5.37:g.140783160C>T	ENSP00000460274:p.Ala214Val	Somatic	0	72	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	A2RU65|Q9Y5C9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A214V	ENST00000573521.1	37	c.641	CCDS58981.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	protein_coding	OTTHUMT00000437105.1	C	NM_018921	-		140783160	1	no_errors	ENST00000573521	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140783160	C	T	140783160	3	4	15	1	0	0	0	0	1	0	0	0	11563	739	26	2	643	2	PCDHGA9	5	140783160	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	86197013	140783160	40132100	13	1056											
TCOF1	6949	genome.wustl.edu	37	chr5	149753842	149753842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctgggaaggcaggggctGtagcctcccagaccaaggca	14	14	0	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr5:149753842G>T	ENST00000504761.2	+	8	976	c.976G>T	c.(976-978)Gta>Tta	p.V326L	TCOF1_ENST00000377797.3_Missense_Mutation_p.V326L|TCOF1_ENST00000323668.7_Missense_Mutation_p.V249L|TCOF1_ENST00000439160.2_Missense_Mutation_p.V326L|TCOF1_ENST00000394269.3_Missense_Mutation_p.V326L|TCOF1_ENST00000451292.1_Missense_Mutation_p.V326L|TCOF1_ENST00000445265.2_Missense_Mutation_p.V249L|TCOF1_ENST00000513346.1_Missense_Mutation_p.V326L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	326					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAGGGGCTGTAGCCTCCCA	0.637																																																	0								ENSG00000070814						18	16	17					5																	149753842		2196	4295	6491	TCOF1	SO:0001583	missense	0			-	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.976G>T	5.37:g.149753842G>T	ENSP00000421655:p.Val326Leu	Somatic	0	54	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP							pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.V326L	ENST00000504761.2	37	c.976	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	5.900	0.350073	0.11182	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.65178	-0.14;0.07;0.07;0.07;0.07;-0.14;0.07;0.07;-0.14	3.8	-7.6	0.01303	Treacher Collins syndrome, treacle (1);	.	.	.	.	T	0.27524	0.0676	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.001;0.001	T	0.11470	-1.0586	9	0.28530	T	0.3	0.381	1.414	0.02298	0.1692:0.2217:0.1622:0.4468	.	326;249;326;326;249;326	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	326;326;249;249;326;326;326;326;326	ENSP00000400939:V326L;ENSP00000367028:V326L;ENSP00000409944:V249L;ENSP00000325223:V249L;ENSP00000406888:V326L;ENSP00000377811:V326L;ENSP00000390717:V326L;ENSP00000421655:V326L;ENSP00000427484:V326L	ENSP00000325223:V249L	V	+	1	0	TCOF1	149734035	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.204000	0.01233	-1.818000	0.01218	-1.373000	0.01185	GTA	-	pfam_TCS_treacle		0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	G	NM_001008656	-		149753842	1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	SNP	0.000	T	T	149753842	G	T	149753842	3	4	15	1	0	0	0	0	1	0	0	0	15715	1377	48	3	1006	3	TCOF1	5	149753842	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	8970682	149753842	31161418	14	1057											
NOTCH4	4855	genome.wustl.edu	37	chr6	32185035	32185035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctcacatcgggtgcCggagaatcctggtggggcgg	15	12	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:32185035C>T	ENST00000375023.3	-	10	1771	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	545	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCGGGTGCCGGAGAATCCT	0.612																																																	0								ENSG00000204301						42	36	38					6																	32185035		1509	2708	4217	NOTCH4	SO:0001583	missense	0			-	HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1633G>A	6.37:g.32185035C>T	ENSP00000364163:p.Gly545Ser	Somatic	0	32	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G545S	ENST00000375023.3	37	c.1633	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394679	0.62066	.	.	ENSG00000204301	ENST00000375023	D	0.84442	-1.85	4.03	4.03	0.46877	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41500	D	0.000880	D	0.94132	0.8118	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.98	D	0.95571	0.8638	10	0.87932	D	0	.	14.0558	0.64767	0.0:1.0:0.0:0.0	.	545;545	Q6P3V5;Q99466	.;NOTC4_HUMAN	S	545	ENSP00000364163:G545S	ENSP00000364163:G545S	G	-	1	0	NOTCH4	32293013	0.997000	0.39634	0.097000	0.21041	0.097000	0.18754	4.787000	0.62432	2.233000	0.73108	0.563000	0.77884	GGC	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	C		-		32185035	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	SNP	0.996	T	T	32185035	C	T	32185035	3	4	15	1	0	0	0	0	1	0	0	0	10553	652	23	1	4462	1	NOTCH4	6	32185035	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		32185035	138930032	15	1058											
RRAGD	58528	genome.wustl.edu	37	chr6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-													ccgctagccccaccagctcaTcctcctcctcctcctcctcc							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_ENST00000492783.1_5'Flank|RRAGD_ENST00000359203.3_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754																																																	0								ENSG00000025039			97,9,3788		4,0,89,2,5,1847						0.6	1			17	184,8,7442		9,0,166,1,6,3635	no	codingComplex	RRAGD	NM_021244.4		13,0,255,3,11,5482	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5151,2.7221,2.585				281,17,11230				RRAGD	SO:0001651	inframe_deletion	0				HGNC	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.66_68delGGA	6.37:g.90121654_90121656delTCC	ENSP00000358423:p.Glu22del	Somatic	0	39	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00		In_Frame_Del	DEL							pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.E22in_frame_del	ENST00000369415.4	37	c.68_66	CCDS5022.1	6																																																																																			-	NULL		0.754	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGD	protein_coding	OTTHUMT00000041484.1	TCC	NM_021244			90121647	-1	no_errors	ENST00000369415	ensembl	human	known	74_37	in_frame_del	DEL	0.998:1.000:0.999	-	-	90121647	TCC	-	90121645	7	5	15	1	0	1	0	1	0	0	0	0	13683	1435	50	0	1162	0	RRAGD	6	90121645	In_Frame_Del	DEL	TCC	TCGA-3B-A9I0-01A-11D-A38Z-09	57936610	90121645	80993422	16	1059											
SERINC1	57515	genome.wustl.edu	37	chr6	122768037	122768037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctacagctcggtgaacatCgtccccatcctccagtgatc	7	15	1	2	rs200633097		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:122768037C>T	ENST00000339697.4	-	9	1192	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	370					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CGGTGAACATCGTCCCCATCC	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		17591	0		0	False		,,,				2504	0																0								ENSG00000111897						189	163	171					6																	122768037		2203	4300	6503	SERINC1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1108G>A	6.37:g.122768037C>T	ENSP00000342962:p.Asp370Asn	Somatic	0	35	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP							pfam_TMS_TDE	p.D370N	ENST00000339697.4	37	c.1108	CCDS5125.1	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.042	0.376072	0.11466	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13538	2.58;2.58	5.4	4.53	0.55603	.	0.362069	0.34652	N	0.003781	T	0.03390	0.0098	L	0.41710	1.295	0.31804	N	0.628054	B	0.06786	0.001	B	0.09377	0.004	T	0.37820	-0.9689	10	0.10377	T	0.69	-10.1574	10.1281	0.42663	0.0:0.8479:0.0:0.1521	.	370	Q9NRX5	SERC1_HUMAN	N	370	ENSP00000342962:D370N;ENSP00000357439:D370N	ENSP00000342962:D370N	D	-	1	0	SERINC1	122809736	1.000000	0.71417	0.727000	0.30756	0.051000	0.14879	2.707000	0.47143	1.282000	0.44496	0.650000	0.86243	GAT	-	pfam_TMS_TDE		0.393	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	protein_coding	OTTHUMT00000042031.2	C	NM_020755	rs200633097		122768037	-1	no_errors	ENST00000339697	ensembl	human	known	74_37	missense	SNP	0.990	T	T	122768037	C	T	122768037	3	4	15	1	0	0	0	0	1	0	0	0	14087	884	31	1	261	1	SERINC1	6	122768037	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	32646392	122768037	48347030	17	1060											
PTPRK	5796	genome.wustl.edu	37	chr6	128294875	128294875	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccacttttccacctgaagtAtcagtttcaagaatgacctt	6	11	2	3			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr6:128294875A>T	ENST00000368215.3	-	28	4063	c.4064T>A	c.(4063-4065)aTa>aAa	p.I1355K	PTPRK_ENST00000532331.1_Missense_Mutation_p.I1378K|PTPRK_ENST00000368207.3_Missense_Mutation_p.I1388K|PTPRK_ENST00000368210.3_Missense_Mutation_p.I1374K|PTPRK_ENST00000368213.5_Missense_Mutation_p.I1362K|PTPRK_ENST00000368226.4_Missense_Mutation_p.I1356K|PTPRK_ENST00000368227.3_Missense_Mutation_p.I1373K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1355	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACCTGAAGTATCAGTTTCAA	0.517																																																	0								ENSG00000152894						132	119	124					6																	128294875		2203	4300	6503	PTPRK	SO:0001583	missense	0			-	HGNC	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4064T>A	6.37:g.128294875A>T	ENSP00000357198:p.Ile1355Lys	Somatic	0	25	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	30	36.17	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I1373K	ENST00000368215.3	37	c.4118		6	.	.	.	.	.	.	.	.	.	.	A	34	5.296997	0.95574	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.90655	0.7069	M	0.81802	2.56	0.80722	D	1	P;P;D;D	0.65815	0.758;0.952;0.995;0.994	P;P;D;P	0.63703	0.723;0.713;0.917;0.865	D	0.92084	0.5675	10	0.87932	D	0	.	16.1614	0.81721	1.0:0.0:0.0:0.0	.	1378;1362;1355;1356	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	K	1356;1373;1378;1362;1374;1355;1388	ENSP00000357209:I1356K;ENSP00000357210:I1373K;ENSP00000432973:I1378K;ENSP00000357196:I1362K;ENSP00000357193:I1374K;ENSP00000357198:I1355K;ENSP00000357190:I1388K	ENSP00000357190:I1388K	I	-	2	0	PTPRK	128336568	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.284000	0.95882	2.219000	0.72066	0.533000	0.62120	ATA	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.517	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	protein_coding	OTTHUMT00000042163.1	A		-		128294875	-1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128294875	A	T	128294875	3	4	15	1	0	0	0	0	1	0	0	0	12813	449	16	5	267	5	PTPRK	6	128294875	Missense_Mutation	SNP	A	TCGA-3B-A9I0-01A-11D-A38Z-09	5526838	128294875	42820192	18	1061											
CALN1	83698	genome.wustl.edu	37	chr7	71252851	71252851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcatatgaggctcttcCggacgcaggtctgtctgttc	13	11	3	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr7:71252851C>T	ENST00000329008.5	-	6	867	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CALN1_ENST00000412588.1_Missense_Mutation_p.R232Q|CALN1_ENST00000395275.2_Missense_Mutation_p.R232Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R190Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R190Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R190Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.R232Q(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGGCTCTTCCGGACGCAGGT	0.552																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000183166						125	98	107					7																	71252851		2203	4300	6503	CALN1	SO:0001583	missense	0			-	HGNC	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.569G>A	7.37:g.71252851C>T	ENSP00000332498:p.Arg190Gln	Somatic	0	31	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	26.32	J3KQA7	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R232Q	ENST00000329008.5	37	c.695	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.581376	0.96565	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74526	-0.69;-0.85;-0.69;-0.69;-0.85;-0.69	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	L	0.29908	0.895	0.50039	D	0.999846	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.82946	-0.0205	10	0.87932	D	0	-29.6416	17.5493	0.87872	0.0:1.0:0.0:0.0	.	190;190	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	190;232;190;190;232;190	ENSP00000332498:R190Q;ENSP00000378690:R232Q;ENSP00000378691:R190Q;ENSP00000410704:R190Q;ENSP00000391882:R232Q;ENSP00000384354:R190Q	ENSP00000332498:R190Q	R	-	2	0	CALN1	70890787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	CGG	-	NULL		0.552	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	protein_coding	OTTHUMT00000320044.2	C	NM_031468	-		71252851	-1	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71252851	C	T	71252851	3	4	15	1	0	0	0	0	1	0	0	0	2593	652	23	1	94	1	CALN1	7	71252851	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		71252851	87885812	19	1062											
ASB10	136371	genome.wustl.edu	37	chr7	150878106	150878106	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcggggctctgggccaGggctgcagctgggccctgca	18	13	1	0	rs61734407	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr7:150878106G>C	ENST00000420175.2	-	3	1048	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	ASB10_ENST00000275838.1_Missense_Mutation_p.L342V|ASB10_ENST00000377867.3_Missense_Mutation_p.L327V|ASB10_ENST00000422024.1_Missense_Mutation_p.L387V|ASB10_ENST00000434669.1_Missense_Mutation_p.L387V			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	342					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTGGGCCAGGGCTGCAGCT	0.682																																																	0								ENSG00000146926						33	29	30					7																	150878106		2199	4294	6493	ASB10	SO:0001583	missense	0			-	HGNC	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1024C>G	7.37:g.150878106G>C	ENSP00000391137:p.Leu342Val	Somatic	0	72	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A0AVH0|Q6ZUL6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L387V	ENST00000420175.2	37	c.1159	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.166178	0.01673	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.69040	-0.34;-0.35;-0.32;-0.33;-0.37	5.26	0.0756	0.14399	Ankyrin repeat-containing domain (4);	0.614834	0.16685	N	0.203768	T	0.35537	0.0935	N	0.04508	-0.205	0.09310	N	0.999999	B;B;B	0.16603	0.018;0.01;0.012	B;B;B	0.17722	0.019;0.015;0.016	T	0.22068	-1.0227	10	0.12430	T	0.62	-0.7496	6.4498	0.21898	0.2083:0.2416:0.5502:0.0	.	327;342;387	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	V	342;327;387;387;342	ENSP00000275838:L342V;ENSP00000367098:L327V;ENSP00000401369:L387V;ENSP00000398247:L387V;ENSP00000391137:L342V	ENSP00000275838:L342V	L	-	1	2	ASB10	150509039	0.994000	0.37717	0.092000	0.20876	0.877000	0.50540	0.268000	0.18571	-0.204000	0.10235	0.591000	0.81541	CTG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	protein_coding	OTTHUMT00000347096.3	G	NM_080871	-		150878106	-1	no_errors	ENST00000422024	ensembl	human	known	74_37	missense	SNP	0.122	C	C	150878106	G	C	150878106	3	2	15	1	0	0	0	0	1	0	0	0	1014	991	35	4	391	4	ASB10	7	150878106	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	79625255	150878106	8260557	20	1063											
CSMD1	64478	genome.wustl.edu	37	chr8	3008950	3008950	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatgagatcctccaggtGcagtctaagttgttggggta	14	6	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:3008950G>T	ENST00000520002.1	-	41	6558	c.6003C>A	c.(6001-6003)tgC>tgA	p.C2001*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C2001*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C2000*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.C2000*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.C2001*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C2000*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C2001*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2001	CUB 12. {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)		TCCTCCAGGTGCAGTCTAAGT	0.463																																																	0								ENSG00000183117						98	103	101					8																	3008950		2033	4220	6253	CSMD1	SO:0001587	stop_gained	0			-	HGNC			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.6003C>A	8.37:g.3008950G>T	ENSP00000430733:p.Cys2001*	Somatic	0	53	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.C2001*	ENST00000520002.1	37	c.6003		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.298489|11.298489	0.99543|0.99543	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	4.79|4.79	3.92|3.92	0.45320|0.45320	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.48786	.|0.1519	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57590	.|-0.7785	.|3	0.02654|.	T|.	1|.	.|.	7.8014|7.8014	0.29176|0.29176	0.2695:0.0:0.7305:0.0|0.2695:0.0:0.7305:0.0	.|.	.|.	.|.	.|.	X|N	2001;2001;1862;2000;2000;2000|1481	.|.	ENSP00000320445:C1862X|.	C|H	-|-	3|1	2|0	CSMD1|CSMD1	2996357|2996357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.235000|0.235000	0.25334|0.25334	2.772000|2.772000	0.47678|0.47678	1.001000|1.001000	0.39076|0.39076	-0.142000|-0.142000	0.14014|0.14014	TGC|CAC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225	-		3008950	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	3008950	G	T	3008950	4	4	15	1	0	0	0	0	0	1	0	0	3946	1311	46	3	4818	3	CSMD1	8	3008950	Nonsense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09		3008950	143355072	21	1064											
MTUS1	57509	genome.wustl.edu	37	chr8	17612954	17612954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgcttctagggaatgAcaactgtgttgcagatattt	9	7	2	2			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:17612954A>C	ENST00000262102.6	-	2	587	c.363T>G	c.(361-363)tgT>tgG	p.C121W	MTUS1_ENST00000381869.3_Missense_Mutation_p.C121W|MTUS1_ENST00000381862.3_Missense_Mutation_p.C121W|MTUS1_ENST00000519263.1_Missense_Mutation_p.C121W	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	121					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)		CTAGGGAATGACAACTGTGTT	0.428																																																	0								ENSG00000129422						135	124	127					8																	17612954		1956	4134	6090	MTUS1	SO:0001583	missense	0			-	HGNC	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.363T>G	8.37:g.17612954A>C	ENSP00000262102:p.Cys121Trp	Somatic	0	30	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	25	50.98	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP							superfamily_Ferritin-like_SF	p.C121W	ENST00000262102.6	37	c.363	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	a	13.84	2.357484	0.41801	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.19806	3.11;3.11;3.11;2.12	3.98	2.83	0.33086	.	0.630018	0.14766	N	0.299720	T	0.28234	0.0697	L	0.29908	0.895	0.09310	N	0.999992	P;D;D	0.69078	0.937;0.997;0.997	P;P;P	0.62740	0.539;0.847;0.906	T	0.04796	-1.0926	10	0.72032	D	0.01	2.1428	8.2874	0.31937	0.9054:0.0:0.0946:0.0	.	121;121;121	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	W	121	ENSP00000371293:C121W;ENSP00000262102:C121W;ENSP00000430167:C121W;ENSP00000371286:C121W	ENSP00000262102:C121W	C	-	3	2	MTUS1	17657234	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.055000	0.11807	0.875000	0.35847	0.456000	0.33151	TGT	-	NULL		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	protein_coding	OTTHUMT00000375247.1	A	XM_372031	-		17612954	-1	no_errors	ENST00000262102	ensembl	human	known	74_37	missense	SNP	0.002	C	C	17612954	A	C	17612954	3	2	15	1	0	0	0	0	1	0	0	0	9967	273	10	5	3824	5	MTUS1	8	17612954	Missense_Mutation	SNP	A	TCGA-3B-A9I0-01A-11D-A38Z-09	14604004	17612954	128751068	22	1065											
ZNF395	55893	genome.wustl.edu	37	chr8	28207583	28207584	+	Frame_Shift_Del	DEL	GA	GA	-													tgctgcccgcacactcaccgGagagagagagcaggcggcgg							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:28207583_28207584delGA	ENST00000344423.5	-	8	1454_1455	c.1323_1324delTC	c.(1321-1326)tctccgfs	p.P442fs	ZNF395_ENST00000523202.1_Frame_Shift_Del_p.P442fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.P442fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	442					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)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ACACTCACCGGAGAGAGAGAGC	0.673																																																	0								ENSG00000186918																																			ZNF395	SO:0001589	frameshift_variant	0				HGNC	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1323_1324delTC	8.37:g.28207591_28207592delGA	ENSP00000340494:p.Pro442fs	Somatic	0	45	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Del	DEL							pfscan_Znf_C2H2	p.P442fs	ENST00000344423.5	37	c.1324_1323	CCDS6067.1	8																																																																																			-	NULL		0.673	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	protein_coding	OTTHUMT00000219976.1	GA				28207584	-1	no_errors	ENST00000344423	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.971	-	-	28207584	GA	-	28207583	7	5	15	1	0	1	0	1	0	0	0	0	17888	1174	41	0	229	0	ZNF395	8	28207583	Frame_Shift_Del	DEL	GA	TCGA-3B-A9I0-01A-11D-A38Z-09	10594629	28207583	118156439	23	1066											
FUT10	84750	genome.wustl.edu	37	chr8	33247235	33247235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagcttataattgtttTtcggggactcttcatgaaaa	9	5	2	2			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:33247235T>C	ENST00000327671.5	-	4	1089	c.458A>G	c.(457-459)aAa>aGa	p.K153R	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.K125R|FUT10_ENST00000524021.1_Missense_Mutation_p.K125R|FUT10_ENST00000335589.3_Missense_Mutation_p.K91R	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	153					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATAATTGTTTTTCGGGGACTC	0.433																																																	0								ENSG00000172728						86	78	80					8																	33247235		2203	4300	6503	FUT10	SO:0001583	missense	0			-	HGNC	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.458A>G	8.37:g.33247235T>C	ENSP00000332757:p.Lys153Arg	Somatic	0	42	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	47.46	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP							pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.K153R	ENST00000327671.5	37	c.458	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	t	16.87	3.242352	0.58995	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.24723	1.87;1.87;1.87;1.84	5.17	5.17	0.71159	.	0.055646	0.64402	D	0.000002	T	0.29976	0.0750	L	0.42581	1.335	0.52099	D	0.99994	P;B;P;B;D;B	0.54047	0.937;0.34;0.712;0.178;0.964;0.236	P;B;B;B;P;B	0.52309	0.695;0.155;0.279;0.155;0.605;0.173	T	0.03086	-1.1074	10	0.11794	T	0.64	-8.0322	13.2792	0.60205	0.0:0.0:0.0:1.0	.	203;153;125;91;153;195	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	R	153;195;125;125;91	ENSP00000332757:K153R;ENSP00000430428:K125R;ENSP00000429870:K125R;ENSP00000334997:K91R	ENSP00000332757:K153R	K	-	2	0	FUT10	33366777	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.138000	0.64795	2.072000	0.62099	0.451000	0.29950	AAA	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met		0.433	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	protein_coding	OTTHUMT00000376540.1	T	NM_032664	-		33247235	-1	no_errors	ENST00000327671	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33247235	T	C	33247235	3	2	15	1	0	0	0	0	1	0	0	0	6104	1841	64	5	989	5	FUT10	8	33247235	Missense_Mutation	SNP	T	TCGA-3B-A9I0-01A-11D-A38Z-09	5039652	33247235	113116787	24	1067											
CYP11B1	1584	genome.wustl.edu	37	chr8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-													cccgggcctgctcacatggtGcagcagcagcagcatctctg							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_In_Frame_Del_p.L535del	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I																																								0								ENSG00000160882																																			CYP11B1	SO:0001651	inframe_deletion	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I		HGNC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1391_1393delTGC	8.37:g.143956387_143956389delGCA	ENSP00000292427:p.Leu464del	Somatic	0	78	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	In_Frame_Del	DEL							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.L464in_frame_del	ENST00000292427.4	37	c.1393_1391	CCDS6392.1	8																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.68	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	GCA				143956380	-1	no_errors	ENST00000292427	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	143956380	GCA	-	143956378	7	5	15	1	0	1	0	1	0	0	0	0	4147	1319	46	0	126	0	CYP11B1	8	143956378	In_Frame_Del	DEL	GCA	TCGA-3B-A9I0-01A-11D-A38Z-09	110709143	143956378	2407644	25	1068											
PPP2R2D	55844	genome.wustl.edu	37	chr10	133769423	133769423	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaatgtcattgccgtgGctgccaccaataacttgtac	9	11	1	0			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr10:133769423G>A	ENST00000422256.2	+	0	1118							Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CATTGCCGTGGCTGCCACCAA	0.493																																																	0								ENSG00000175470						41	46	44					10																	133769423		2199	4298	6497	PPP2R2D	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.*225G>A	10.37:g.133769423G>A		Somatic	0	85	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.A409T	ENST00000422256.2	37	c.1225		10	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636691	0.67130	.	.	ENSG00000175470	ENST00000455566	T	0.32988	1.43	3.9	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.066466	0.64402	D	0.000011	T	0.57140	0.2033	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65512	-0.6150	9	0.87932	D	0	-21.4659	16.4735	0.84125	0.0:0.0:1.0:0.0	.	440	Q66LE6	2ABD_HUMAN	T	409	ENSP00000399970:A409T	ENSP00000399970:A409T	A	+	1	0	PPP2R2D	133619413	1.000000	0.71417	0.073000	0.20177	0.171000	0.22731	6.557000	0.73937	2.184000	0.69523	0.650000	0.86243	GCT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.493	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	protein_coding		G	NM_018461	-		133769423	1	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	SNP	0.947	A	A	133769423	G	A	133769423	1	1	15	0	1	0	0	0	0	0	0	0	12392	1203	42	2		2	PPP2R2D	10	133769423	3'UTR	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09		133769423	1765324	26	1069											
ZBTB3	79842	genome.wustl.edu	37	chr11	62519651	62519651	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctgttggggagccagggaGaggctgcacccctagaaggg	18	9	0	2			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr11:62519651G>A	ENST00000394807.3	-	2	1761	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	546					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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GAGCCAGGGAGAGGCTGCACC	0.562																																																	0								ENSG00000185670						80	79	79					11																	62519651		2202	4299	6501	ZBTB3	SO:0001583	missense	0			-	HGNC	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1636C>T	11.37:g.62519651G>A	ENSP00000378286:p.Leu546Phe	Somatic	0	46	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86		Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L546F	ENST00000394807.3	37	c.1636	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765638	0.31228	.	.	ENSG00000185670	ENST00000394807	T	0.13538	2.58	4.62	0.124	0.14714	.	0.312456	0.25932	N	0.027364	T	0.06416	0.0165	N	0.24115	0.695	0.24577	N	0.993893	B	0.29716	0.255	B	0.24701	0.055	T	0.25152	-1.0140	10	0.35671	T	0.21	.	3.2565	0.06834	0.0959:0.3208:0.4187:0.1646	.	546	Q9H5J0	ZBTB3_HUMAN	F	546	ENSP00000378286:L546F	ENSP00000378286:L546F	L	-	1	0	ZBTB3	62276227	0.819000	0.29175	0.997000	0.53966	0.920000	0.55202	0.943000	0.29030	0.377000	0.24735	0.561000	0.74099	CTC	-	NULL		0.562	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	protein_coding	OTTHUMT00000395342.1	G	NM_024784	-		62519651	-1	no_errors	ENST00000394807	ensembl	human	known	74_37	missense	SNP	0.990	A	A	62519651	G	A	62519651	3	1	15	1	0	0	0	0	1	0	0	0	17541	942	33	2	92	2	ZBTB3	11	62519651	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09		62519651	72486865	27	1070											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120291478	120291478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcttgttcagcgttgCgtaatcatccagaaagatga	11	8	3	3	rs199795842	byFrequency	TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr11:120291478C>T	ENST00000397843.2	+	5	382	c.216C>T	c.(214-216)tgC>tgT	p.C72C	ARHGEF12_ENST00000356641.3_Silent_p.C53C|ARHGEF12_ENST00000532993.1_5'UTR	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	72	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCAGCGTTGCGTAATCATCC	0.383			T	MLL	AML								C|||	2	0.000399361	0	0	5008	,	,		18684	0.001		0.001	False		,,,				2504	0							Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0								ENSG00000196914	C	,	0,4006		0,0,2003	96	89	91		159,216	2.1	1	11		91	1,8373		0,1,4186	no	coding-synonymous,coding-synonymous	ARHGEF12	NM_001198665.1,NM_015313.2	,	0,1,6189	TT,TC,CC		0.0119,0.0,0.0081	,	53/1526,72/1545	120291478	1,12379	2003	4187	6190	ARHGEF12	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.216C>T	11.37:g.120291478C>T		Somatic	0	96	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	O15086|Q6P526	Silent	SNP							pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C53	ENST00000397843.2	37	c.159	CCDS41727.1	11																																																																																			-	superfamily_PDZ,pfscan_PDZ		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	protein_coding	OTTHUMT00000388052.1	C	NM_015313	rs199795842		120291478	1	no_errors	ENST00000356641	ensembl	human	known	74_37	silent	SNP	1.000	T	T	120291478	C	T	120291478	2	4	15	1	0	0	0	0	0	0	0	1	897	776	27	1		1	ARHGEF12	11	120291478	Silent	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	57771827	120291478	14715038	28	1071											
KRT18	3875	genome.wustl.edu	37	chr12	53343288	53343288	+	Frame_Shift_Del	DEL	A	A	-													agaaccggaggctggagagcAaaatccgggagcacttggag							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr12:53343288delA	ENST00000388835.3	+	1	541	c.331delA	c.(331-333)aaafs	p.K111fs	KRT8_ENST00000552551.1_5'UTR|KRT18_ENST00000388837.2_Frame_Shift_Del_p.K111fs|KRT8_ENST00000546897.1_Intron|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'UTR|KRT18_ENST00000550600.1_Frame_Shift_Del_p.K111fs	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	111	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGAGAGCAAAATCCGGGA	0.577																																																	0								ENSG00000111057						29	35	33					12																	53343288		2203	4294	6497	KRT18	SO:0001589	frameshift_variant	0				HGNC		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.331delA	12.37:g.53343288delA	ENSP00000373487:p.Lys111fs	Somatic	0	53	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	Q53G38|Q5U0N8|Q9BW26	Frame_Shift_Del	DEL							pfam_IF,prints_Keratin_I	p.I112fs	ENST00000388835.3	37	c.331	CCDS31809.1	12																																																																																			-	pfam_IF		0.577	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	protein_coding	OTTHUMT00000406405.1	A	NM_199187			53343288	1	no_errors	ENST00000388835	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	53343288	A	-	53343288	7	5	15	1	0	1	0	1	0	0	0	0	8457	131	5	0	333	0	KRT18	12	53343288	Frame_Shift_Del	DEL	A	TCGA-3B-A9I0-01A-11D-A38Z-09		53343288	80508607	29	1072											
RB1	5925	genome.wustl.edu	37	chr13	48919300	48919300	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaagactgttgaagaagtaTgatgtattgtttgcactctt	9	5	2	4			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr13:48919300T>A	ENST00000267163.4	+	4	603	c.465T>A	c.(463-465)taT>taA	p.Y155*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	155					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGAAGAAGTATGATGTATTGT	0.294		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139687						128	127	127					13																	48919300		2202	4293	6495	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.465T>A	13.37:g.48919300T>A	ENSP00000267163:p.Tyr155*	Somatic	0	54	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	7	65.00	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Y155*	ENST00000267163.4	37	c.465	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	T	27.8	4.866678	0.91511	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.89	-0.579	0.11720	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6665	0.28434	0.0:0.3821:0.0:0.6179	.	.	.	.	X	134;155	.	ENSP00000267163:Y155X	Y	+	3	2	RB1	47817301	0.964000	0.33143	0.913000	0.36048	0.917000	0.54804	-0.046000	0.11983	-0.341000	0.08376	0.397000	0.26171	TAT	-	pfam_RB_N		0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	T		-		48919300	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	0.960	A	A	48919300	T	A	48919300	4	1	15	1	0	0	0	0	0	1	0	0	13106	1471	51	5	479	5	RB1	13	48919300	Nonsense_Mutation	SNP	T	TCGA-3B-A9I0-01A-11D-A38Z-09		48919300	66250578	30	1073											
C15orf24	56851	genome.wustl.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	AGC	AGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																																	0								ENSG00000134153																																			EMC7	SO:0001651	inframe_deletion	0				HGNC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del	Somatic	0	47	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B2RC00|Q96ED5	In_Frame_Del	DEL							pfam_DUF2012,superfamily_Carb-bd-like_fold	p.L17in_frame_del	ENST00000256545.4	37	c.50_48	CCDS10032.1	15																																																																																			-	NULL		0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EMC7	protein_coding	OTTHUMT00000251519.1	AGC	NM_020154			34393993	-1	no_errors	ENST00000256545	ensembl	human	known	74_37	in_frame_del	DEL	0.275:0.430:0.449	-	-	34393993	AGC	-	34393991	7	5	15	1	0	1	0	1	0	0	0	0	1788	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-3B-A9I0-01A-11D-A38Z-09		34393991	68137401	31	1074											
NPW	283869	genome.wustl.edu	37	chr16	2070566	2070566	+	Frame_Shift_Del	DEL	G	G	-													gacgtctcccgcccagcggtGgaccccgcagcaaaccgcct							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr16:2070566delG	ENST00000566435.1	+	2	801	c.288delG	c.(286-288)gtgfs	p.V96fs	NPW_ENST00000329610.4_Frame_Shift_Del_p.V148fs			Q8N729	NPW_HUMAN	neuropeptide W	148					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						GCCCAGCGGTGGACCCCGCAG	0.726																																																	0								ENSG00000183971						17	24	21					16																	2070566		1927	4112	6039	NPW	SO:0001589	frameshift_variant	0				HGNC	AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"Endogenous ligands"	30509	protein-coding gene	gene with protein product	"prepro-neuropeptide W"	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.288delG	16.37:g.2070566delG	ENSP00000456974:p.Val96fs	Somatic	0	61	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29		Frame_Shift_Del	DEL							prints_Neuropept_W_pre,prints_Neuropept_BW_pre	p.D149fs	ENST00000566435.1	37	c.444		16																																																																																			-	NULL		0.726	NPW-001	KNOWN	basic|appris_principal	protein_coding	NPW	protein_coding	OTTHUMT00000434312.1	G	NM_001099456			2070566	1	no_errors	ENST00000329610	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	2070566	G	-	2070566	7	5	15	1	0	1	0	1	0	0	0	0	10608	1335	47	0	450	0	NPW	16	2070566	Frame_Shift_Del	DEL	G	TCGA-3B-A9I0-01A-11D-A38Z-09		2070566	88284187	32	1075											
KIF22	3835	genome.wustl.edu	37	chr16	29808222	29808222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctcctccaggagctggtCgctgtcggctaagcaagatt	11	12	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr16:29808222C>T	ENST00000160827.4	+	2	119	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	KIF22_ENST00000569382.2_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	27					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGAGCTGGTCGCTGTCGGCT	0.582																																																	0								ENSG00000079616						88	88	88					16																	29808222		2197	4296	6493	KIF22	SO:0001583	missense	0			-	HGNC	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.79C>T	16.37:g.29808222C>T	ENSP00000160827:p.Arg27Cys	Somatic	0	30	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R27C	ENST00000160827.4	37	c.79	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	c	18.59	3.656194	0.67586	.	.	ENSG00000079616	ENST00000160827	T	0.74106	-0.81	5.56	4.62	0.57501	.	.	.	.	.	T	0.53546	0.1803	N	0.08118	0	0.80722	D	1	B	0.25850	0.136	B	0.16289	0.015	T	0.54866	-0.8229	9	0.56958	D	0.05	.	10.9611	0.47385	0.0:0.9129:0.0:0.0871	.	27	Q14807	KIF22_HUMAN	C	27	ENSP00000160827:R27C	ENSP00000160827:R27C	R	+	1	0	KIF22	29715723	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	1.631000	0.37092	1.499000	0.48617	-0.119000	0.15052	CGC	-	NULL		0.582	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	protein_coding	OTTHUMT00000215012.2	C		-		29808222	1	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	SNP	0.998	T	T	29808222	C	T	29808222	3	4	15	1	0	0	0	0	1	0	0	0	8292	884	31	1	85	1	KIF22	16	29808222	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	27737656	29808222	60546531	33	1076											
SETD1A	9739	genome.wustl.edu	37	chr16	30976472	30976472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccctgcccgctctggctCcccagccccggagaccacca	8	23	1	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr16:30976472C>T	ENST00000262519.8	+	7	2095	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	470	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTCTGGCTCCCCAGCCCCG	0.662																																																	0								ENSG00000099381						26	29	28					16																	30976472		2197	4300	6497	SETD1A	SO:0001583	missense	0			-	HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1409C>T	16.37:g.30976472C>T	ENSP00000262519:p.Ser470Phe	Somatic	0	70	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	33.33	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP							pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S470F	ENST00000262519.8	37	c.1409	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815897	0.50527	.	.	ENSG00000099381	ENST00000262519	D	0.96619	-4.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	L	0.50333	1.59	0.46317	D	0.998981	D	0.76494	0.999	D	0.85130	0.997	D	0.98206	1.0470	10	0.87932	D	0	.	18.2639	0.90046	0.0:1.0:0.0:0.0	.	470	O15047	SET1A_HUMAN	F	470	ENSP00000262519:S470F	ENSP00000262519:S470F	S	+	2	0	SETD1A	30883973	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	5.942000	0.70203	2.601000	0.87937	0.561000	0.74099	TCC	-	NULL		0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	C	NM_014712	-		30976472	1	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30976472	C	T	30976472	3	4	15	1	0	0	0	0	1	0	0	0	14138	855	30	2	1431	2	SETD1A	16	30976472	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	1168250	30976472	59378281	34	1077											
WDR81	124997	genome.wustl.edu	37	chr17	1629760	1629761	+	Frame_Shift_Del	DEL	CG	CG	-													acaccgatccctctatcttcCgctccatccaccccgacatg							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	CG	CG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr17:1629760_1629761delCG	ENST00000409644.1	+	1	1507_1508	c.1507_1508delCG	c.(1507-1509)cgcfs	p.R503fs	WDR81_ENST00000309182.5_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	503	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTCTATCTTCCGCTCCATCCAC	0.634																																																	0								ENSG00000167716																																			WDR81	SO:0001589	frameshift_variant	0				HGNC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1507_1508delCG	17.37:g.1629760_1629761delCG	ENSP00000386609:p.Arg503fs	Somatic	0	62	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R503fs	ENST00000409644.1	37	c.1507_1508	CCDS54062.1	17																																																																																			-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.634	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	CG	NM_152348			1629761	1	no_errors	ENST00000409644	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	1629761	CG	-	1629760	7	5	15	1	0	1	0	1	0	0	0	0	17337	652	23	0	1571	0	WDR81	17	1629760	Frame_Shift_Del	DEL	CG	TCGA-3B-A9I0-01A-11D-A38Z-09		1629760	79565450	35	1078											
WDR81	124997	genome.wustl.edu	37	chr17	1630993	1630993	+	Frame_Shift_Del	DEL	A	A	-													agcagctgggcgcggtgctgAaggacatcacccctgagggc							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr17:1630993delA	ENST00000409644.1	+	1	2740	c.2740delA	c.(2740-2742)aagfs	p.K914fs	WDR81_ENST00000309182.5_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000545662.1_5'Flank|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	914					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCGGTGCTGAAGGACATCAC	0.617																																																	0								ENSG00000167716						57	55	56					17																	1630993		692	1591	2283	WDR81	SO:0001589	frameshift_variant	0				HGNC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.2740delA	17.37:g.1630993delA	ENSP00000386609:p.Lys914fs	Somatic	0	64	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K914fs	ENST00000409644.1	37	c.2740	CCDS54062.1	17																																																																																			-	NULL		0.617	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	A	NM_152348			1630993	1	no_errors	ENST00000409644	ensembl	human	known	74_37	frame_shift_del	DEL	0.013	-	-	1630993	A	-	1630993	7	5	15	1	0	1	0	1	0	0	0	0	17337	247	9	0	2804	0	WDR81	17	1630993	Frame_Shift_Del	DEL	A	TCGA-3B-A9I0-01A-11D-A38Z-09	1233	1630993	79564217	36	1079											
TP53	7157	genome.wustl.edu	37	chr17	7578271	7578273	+	In_Frame_Del	DEL	TGC	TGC	-													ttccttccactcggataagaTgctgaggaggggccagacct							TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr17:7578271_7578273delTGC	ENST00000269305.4	-	6	765_767	c.576_578delGCA	c.(574-579)cagcat>cat	p.Q192del	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_In_Frame_Del_p.Q192del|TP53_ENST00000359597.4_In_Frame_Del_p.Q192del|TP53_ENST00000445888.2_In_Frame_Del_p.Q192del|TP53_ENST00000413465.2_In_Frame_Del_p.Q192del|TP53_ENST00000455263.2_In_Frame_Del_p.Q192del	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.H193R(80)|p.H193L(42)|p.H193Y(29)|p.H193P(18)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.Q192H(3)|p.P191fs*53(2)|p.Q192Q(2)|p.H61P(2)|p.H100P(2)|p.H61D(2)|p.H100D(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192del(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)	TCGGATAAGATGCTGAGGAGGGG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	253	Substitution - Missense(215)|Whole gene deletion(8)|Deletion - In frame(7)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Substitution - coding silent(2)|Complex - frameshift(1)|Complex - insertion inframe(1)	lung(47)|upper_aerodigestive_tract(32)|breast(28)|ovary(23)|oesophagus(19)|haematopoietic_and_lymphoid_tissue(17)|liver(15)|biliary_tract(12)|endometrium(12)|large_intestine(10)|stomach(9)|central_nervous_system(8)|urinary_tract(7)|skin(5)|bone(4)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M		ENSG00000141510																																			TP53	SO:0001651	inframe_deletion	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;		HGNC	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.576_578delGCA	17.37:g.7578271_7578273delTGC	ENSP00000269305:p.Gln192del	Somatic	0	103	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	9	74.29	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	In_Frame_Del	DEL							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q192in_frame_del	ENST00000269305.4	37	c.578_576	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	TGC	NM_000546			7578273	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	DEL	0.998:1.000:0.998	-	-	7578273	TGC	-	7578271	7	5	15	1	0	1	0	1	0	0	0	0	16388	1464	51	0	716	0	TP53	17	7578271	In_Frame_Del	DEL	TGC	TCGA-3B-A9I0-01A-11D-A38Z-09	5947278	7578271	73616939	37	1080											
AQP4	361	genome.wustl.edu	37	chr18	24436401	24436401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctggacagaagacatacTcataaaggccaccagcgagg	10	11	2	2			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr18:24436401T>C	ENST00000383168.4	-	5	874	c.746A>G	c.(745-747)gAg>gGg	p.E249G	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.E227G|AQP4_ENST00000581374.1_Missense_Mutation_p.E227G|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	249					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAAGACATACTCATAAAGGCC	0.443																																																	0								ENSG00000171885						108	104	106					18																	24436401		2203	4300	6503	AQP4	SO:0001583	missense	0			-	HGNC	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.746A>G	18.37:g.24436401T>C	ENSP00000372654:p.Glu249Gly	Somatic	0	28	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62	P78564	Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.E249G	ENST00000383168.4	37	c.746	CCDS11889.1	18	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808036	0.90707	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.92911	-3.13	5.75	5.75	0.90469	Aquaporin-like (2);	0.043465	0.85682	D	0.000000	D	0.89396	0.6703	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.45474	0.482	D	0.90597	0.4541	10	0.62326	D	0.03	.	16.0475	0.80731	0.0:0.0:0.0:1.0	.	249	P55087	AQP4_HUMAN	G	249;229;145	ENSP00000372654:E249G	ENSP00000372654:E249G	E	-	2	0	AQP4	22690399	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.442000	0.80503	2.193000	0.70182	0.528000	0.53228	GAG	-	superfamily_Aquaporin-like,prints_MIP		0.443	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	protein_coding	OTTHUMT00000254914.2	T	NM_001650, NM_004028	-		24436401	-1	no_errors	ENST00000383168	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24436401	T	C	24436401	3	2	15	1	0	0	0	0	1	0	0	0	828	1551	54	5	229	5	AQP4	18	24436401	Missense_Mutation	SNP	T	TCGA-3B-A9I0-01A-11D-A38Z-09		24436401	53640847	38	1081											
CDH19	28513	genome.wustl.edu	37	chr18	64235825	64235825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagggatcgctcctctctAtcaagcttctgtatggcata	9	10	3	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr18:64235825A>G	ENST00000540086.1	-	3	564	c.318T>C	c.(316-318)gaT>gaC	p.D106D	CDH19_ENST00000262150.2_Silent_p.D106D	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	214	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTCCTCTCTATCAAGCTTCT	0.438																																																	0								ENSG00000071991						138	133	134					18																	64235825		2203	4299	6502	CDH19	SO:0001819	synonymous_variant	0			-	HGNC	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.318T>C	18.37:g.64235825A>G		Somatic	0	15	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	O15098	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D106	ENST00000540086.1	37	c.318	CCDS59325.1	18																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.438	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	protein_coding	OTTHUMT00000442285.1	A	NM_021153	-		64235825	-1	no_errors	ENST00000262150	ensembl	human	known	74_37	silent	SNP	1.000	G	G	64235825	A	G	64235825	2	3	15	1	0	0	0	0	0	0	0	1	3106	446	16	5		5	CDH19	18	64235825	Silent	SNP	A	TCGA-3B-A9I0-01A-11D-A38Z-09	39799424	64235825	13841423	39	1082											
SBNO2	22904	genome.wustl.edu	37	chr19	1111506	1111506	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccagcccagcttaccCcggaagaaggtggggacccc	11	18	0	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:1111506C>G	ENST00000361757.3	-	24	3045	c.2808G>C	c.(2806-2808)cgG>cgC	p.R936R	SBNO2_ENST00000438103.2_Splice_Site_p.R879R|SBNO2_ENST00000587024.1_Splice_Site_p.R926R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	936					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CCAGCTTACCCCGGAAGAAGG	0.652																																																	0								ENSG00000064932						18	21	20					19																	1111506		1878	4088	5966	SBNO2	SO:0001630	splice_region_variant	0			-	HGNC	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2809+1G>C	19.37:g.1111506C>G		Somatic	0	88	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP							superfamily_P-loop_NTPase	p.R936	ENST00000361757.3	37	c.2808	CCDS45894.1	19																																																																																			-	NULL		0.652	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	protein_coding	OTTHUMT00000458065.2	C	NM_014963	-	Silent	1111506	-1	no_errors	ENST00000361757	ensembl	human	known	74_37	silent	SNP	0.991	G	G	1111506	C	G	1111506	5	3	15	1	0	0	0	0	0	0	1	0	13871	637	22	4	1328	4	SBNO2	19	1111506	Splice_Site	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		1111506	58017477	40	1083											
SPPL2B	56928	genome.wustl.edu	37	chr19	2344031	2344031	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgttcatcacgcccttcctGaccaaggtaggcgactgcct	10	14	2	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:2344031G>T	ENST00000452401.2	+	0	1184							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						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)		CGCCCTTCCTGACCAAGGTAG	0.697																																																	0								ENSG00000005206						38	39	39					19																	2344031		1857	3669	5526	SPPL2B			0			-	HGNC		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"intramembrane protease 4"	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2344031G>T		Somatic	0	77	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP							-	NULL	ENST00000452401.2	37	NULL		19																																																																																			-	-		0.697	SPPL2B-202	KNOWN	basic	processed_transcript	SPPL2B	processed_transcript		G	NM_020172	-		2344031	1	no_errors	ENST00000452401	ensembl	human	known	74_37	rna	SNP	1.000	T	T	2344031	G	T	2344031	1	4	15	0	1	0	0	0	0	0	0	0	15096	1277	45	3		3	SPPL2B	19	2344031	RNA	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	1232525	2344031	56784952	41	1084											
ZNF780B	163131	genome.wustl.edu	37	chr19	40541887	40541887	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaattttttgatgctgAataagatttgaaccacgatt	8	4	0	5			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:40541887A>T	ENST00000434248.1	-	5	944	c.879T>A	c.(877-879)atT>atA	p.I293I	ZNF780B_ENST00000221355.6_Silent_p.I145I	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	293					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTGATGCTGAATAAGATTTG	0.378																																																	0								ENSG00000128000						112	117	115					19																	40541887		2203	4300	6503	ZNF780B	SO:0001819	synonymous_variant	0			-	HGNC	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.879T>A	19.37:g.40541887A>T		Somatic	0	42	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B9EH00	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I293	ENST00000434248.1	37	c.879	CCDS46077.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	protein_coding	OTTHUMT00000338466.1	A	NM_001005851	-		40541887	-1	no_errors	ENST00000434248	ensembl	human	known	74_37	silent	SNP	0.000	T	T	40541887	A	T	40541887	2	4	15	1	0	0	0	0	0	0	0	1	18160	242	9	5		5	ZNF780B	19	40541887	Silent	SNP	A	TCGA-3B-A9I0-01A-11D-A38Z-09	38197856	40541887	18587096	42	1085											
ZNF446	55663	genome.wustl.edu	37	chr19	58991842	58991842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccccggggctagccaccGgggaaagcacagagaagcca	14	13	0	1	rs376903864		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr19:58991842G>A	ENST00000594369.1	+	7	1483	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	ZNF446_ENST00000335841.4_3'UTR|ZNF446_ENST00000596341.1_Missense_Mutation_p.G317R	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	368					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		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)		GCTAGCCACCGGGGAAAGCAC	0.662													G|||	1	0.000199681	0	0	5008	,	,		16648	0		0	False		,,,				2504	0.001																0								ENSG00000083838	G	ARG/GLY	0,4404		0,0,2202	26	28	27		1102	-0.9	0	19		27	1,8599		0,1,4299	no	missense	ZNF446	NM_017908.2	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	368/451	58991842	1,13003	2202	4300	6502	ZNF446	SO:0001583	missense	0			-	HGNC		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1102G>A	19.37:g.58991842G>A	ENSP00000472802:p.Gly368Arg	Somatic	0	116	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G368R	ENST00000594369.1	37	c.1102	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	9.360	1.067840	0.20067	0.0	1.16E-4	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	0.55	-0.904	0.10530	.	.	.	.	.	T	0.49184	0.1542	L	0.45228	1.405	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.37197	-0.9716	7	0.48119	T	0.1	.	.	.	.	.	368	Q9NWS9	ZN446_HUMAN	R	368;368;265	.	ENSP00000336565:G368R	G	+	1	0	ZNF446	63683654	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.320000	0.08640	-0.315000	0.08773	GGG	-	NULL		0.662	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	protein_coding	OTTHUMT00000467052.1	G	NM_017908	-		58991842	1	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58991842	G	A	58991842	3	1	15	1	0	0	0	0	1	0	0	0	17926	1116	39	1	1124	1	ZNF446	19	58991842	Missense_Mutation	SNP	G	TCGA-3B-A9I0-01A-11D-A38Z-09	18449955	58991842	137141	43	1086											
PAX1	5075	genome.wustl.edu	37	chr20	21687507	21687507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtacgaggcaagtaagcagCcgccgtcgcagcctacgctg	13	14	0	0			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr20:21687507C>A	ENST00000398485.2	+	2	772	c.718C>A	c.(718-720)Ccg>Acg	p.P240T	PAX1_ENST00000444366.2_Missense_Mutation_p.P216T|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	240					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AAGTAAGCAGCCGCCGTCGCA	0.647																																																	0								ENSG00000125813						35	42	40					20																	21687507		2202	4300	6502	PAX1	SO:0001583	missense	0			-	HGNC		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.718C>A	20.37:g.21687507C>A	ENSP00000381499:p.Pro240Thr	Somatic	0	194	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	8	83.33	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP							pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.P240T	ENST00000398485.2	37	c.718	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362716	0.41902	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98280	-4.35;-4.84	5.04	4.07	0.47477	.	0.310366	0.34338	N	0.004048	D	0.96549	0.8874	L	0.45051	1.395	0.36833	D	0.887001	B;B;P	0.48764	0.03;0.0;0.915	B;B;P	0.45071	0.03;0.003;0.468	D	0.96711	0.9525	10	0.45353	T	0.12	.	14.1361	0.65289	0.0:0.8482:0.1518:0.0	.	216;146;240	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	T	240;216	ENSP00000381499:P240T;ENSP00000410355:P216T	ENSP00000381499:P240T	P	+	1	0	PAX1	21635507	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.983000	0.49345	1.080000	0.41073	0.462000	0.41574	CCG	-	NULL		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	protein_coding	OTTHUMT00000078282.3	C		-		21687507	1	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21687507	C	A	21687507	3	1	15	1	0	0	0	0	1	0	0	0	11480	739	26	3	724	3	PAX1	20	21687507	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09		21687507	41338013	44	1087											
SEC14L4	284904	genome.wustl.edu	37	chr22	30890890	30890890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctggcttccacaggtgtTtcaggctcagcccctccatg	10	15	2	0			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chr22:30890890T>C	ENST00000255858.7	-	6	565	c.482A>G	c.(481-483)aAa>aGa	p.K161R	SEC14L4_ENST00000381982.3_Missense_Mutation_p.K161R|SEC14L4_ENST00000540456.1_Missense_Mutation_p.K146R|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.K107R|RP4-539M6.14_ENST00000442126.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	161	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCACAGGTGTTTCAGGCTCAG	0.602																																																	0								ENSG00000133488						141	111	121					22																	30890890		2203	4300	6503	SEC14L4	SO:0001583	missense	0			-	HGNC	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.482A>G	22.37:g.30890890T>C	ENSP00000255858:p.Lys161Arg	Somatic	0	27	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	A5D6W7|A6NCV4	Missense_Mutation	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.K161R	ENST00000255858.7	37	c.482	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	t	12.61	1.990464	0.35131	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.11	-3.79	0.04320	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.332649	0.34580	N	0.003850	T	0.54415	0.1857	N	0.16567	0.415	0.51767	D	0.999936	B;B;B	0.18310	0.002;0.027;0.001	B;B;B	0.23419	0.012;0.046;0.007	T	0.44314	-0.9336	10	0.06757	T	0.87	-14.797	12.2975	0.54857	0.0:0.5721:0.0:0.4279	.	107;146;161	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	R	161;146;107;161	ENSP00000255858:K161R;ENSP00000440848:K146R;ENSP00000376525:K107R;ENSP00000371412:K161R	ENSP00000255858:K161R	K	-	2	0	SEC14L4	29220890	0.741000	0.28217	0.261000	0.24466	0.951000	0.60555	0.808000	0.27154	-0.669000	0.05289	0.482000	0.46254	AAA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.602	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	protein_coding	OTTHUMT00000321946.1	T	NM_174977	-		30890890	-1	no_errors	ENST00000255858	ensembl	human	known	74_37	missense	SNP	0.655	C	C	30890890	T	C	30890890	3	2	15	1	0	0	0	0	1	0	0	0	13992	1841	64	5	772	5	SEC14L4	22	30890890	Missense_Mutation	SNP	T	TCGA-3B-A9I0-01A-11D-A38Z-09		30890890	20413676	45	1088											
AR	367	genome.wustl.edu	37	chrX	66765159	66765161	+	In_Frame_Del	DEL	GCA	GCA	-													ggcgccagtttgctgctgctGcagcagcagcagcagcagca					rs200185441		TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chrX:66765159_66765161delGCA	ENST00000374690.3	+	1	695_697	c.171_173delGCA	c.(169-174)ctgcag>ctg	p.Q80del	AR_ENST00000504326.1_In_Frame_Del_p.Q80del|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_In_Frame_Del_p.Q80del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcag	0.665									Androgen Insensitivity Syndrome																																								2	Substitution - Missense(2)	lung(1)|endometrium(1)	GRCh37	CI065812|CM033749	AR	I|M	rs5902610	ENSG00000169083																																			AR	SO:0001651	inframe_deletion	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome		HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.171_173delGCA	X.37:g.66765168_66765170delGCA	ENSP00000363822:p.Gln80del	Somatic	0	56	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL							pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q61in_frame_del	ENST00000374690.3	37	c.171_173	CCDS14387.1	X																																																																																			-	pfam_Andrgn_rcpt		0.665	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	GCA	NM_000044			66765161	1	no_errors	ENST00000374690	ensembl	human	known	74_37	in_frame_del	DEL	0.925:0.922:0.920	-	-	66765161	GCA	-	66765159	7	5	15	1	0	1	0	1	0	0	0	0	836	1306	46	0	173	0	AR	23	66765159	In_Frame_Del	DEL	GCA	TCGA-3B-A9I0-01A-11D-A38Z-09		66765159	88505401	46	1089											
MAGEA12	4111	genome.wustl.edu	37	chrX	151900479	151900479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatcttcctactgagtgCtacttggaagctcgtctcca	8	13	2	1			TCGA-3B-A9I0-01A-11D-A38Z-09	TCGA-3B-A9I0-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ead7c3-30d8-4812-ab42-1b53baf2b5ae	fa1a7e55-1d0b-430d-88b4-c845358435dc	g.chrX:151900479C>T	ENST00000357916.4	-	2	477	c.322G>A	c.(322-324)Gca>Aca	p.A108T	CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A108T|MAGEA12_ENST00000393900.3_Missense_Mutation_p.A108T|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	108										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTGAGTGCTACTTGGAAG	0.512																																																	0								ENSG00000213401						148	125	132					X																	151900479		2203	4300	6503	MAGEA12	SO:0001583	missense	0			-	HGNC		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.322G>A	X.37:g.151900479C>T	ENSP00000350592:p.Ala108Thr	Somatic	0	48	0		0.67148039142762				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q9NSD3	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A108T	ENST00000357916.4	37	c.322	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	C	6.460	0.453105	0.12283	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.01745	4.66;4.66;4.66	1.14	0.0124	0.14091	.	1.875910	0.02377	N	0.078483	T	0.02267	0.0070	L	0.54908	1.71	0.09310	N	1	B	0.31435	0.323	B	0.23018	0.043	T	0.47262	-0.9131	10	0.25751	T	0.34	.	4.5635	0.12172	0.0:0.5889:0.4111:0.0	.	108	P43365	MAGAC_HUMAN	T	108	ENSP00000350592:A108T;ENSP00000377447:A108T;ENSP00000377478:A108T	ENSP00000350592:A108T	A	-	1	0	MAGEA12	151651135	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.273000	0.08548	-0.056000	0.13221	0.179000	0.17066	GCA	-	NULL		0.512	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	protein_coding	OTTHUMT00000058764.1	C	NM_005367	-		151900479	-1	no_errors	ENST00000357916	ensembl	human	known	74_37	missense	SNP	0.001	T	T	151900479	C	T	151900479	3	4	15	1	0	0	0	0	1	0	0	0	9168	797	28	2	626	2	MAGEA12	23	151900479	Missense_Mutation	SNP	C	TCGA-3B-A9I0-01A-11D-A38Z-09	85135320	151900479	3370081	47	1090											
GPSM2	29899	genome.wustl.edu	37	chr1	109444543	109444543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatctgaagcacttagCaattgctcaagagctgaatg	8	8	3	3			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr1:109444543C>T	ENST00000406462.2	+	9	1702	c.929C>T	c.(928-930)gCa>gTa	p.A310V	GPSM2_ENST00000264126.3_Missense_Mutation_p.A310V|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	310					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAGCACTTAGCAATTGCTCAA	0.343																																																	0								ENSG00000121957						81	77	78					1																	109444543		2203	4300	6503	GPSM2	SO:0001583	missense	0			-	HGNC	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.929C>T	1.37:g.109444543C>T	ENSP00000385510:p.Ala310Val	Somatic	0	37	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	27	50.00	Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP							pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A310V	ENST00000406462.2	37	c.929	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.838106	0.32513	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.94793	-3.52;-3.52	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.355324	0.32640	N	0.005821	D	0.83216	0.5206	N	0.16478	0.41	0.37576	D	0.919609	B	0.02656	0.0	B	0.04013	0.001	T	0.78160	-0.2312	10	0.27785	T	0.31	-6.9177	13.5082	0.61495	0.0:0.9195:0.0:0.0805	.	310	P81274	GPSM2_HUMAN	V	310	ENSP00000385510:A310V;ENSP00000264126:A310V	ENSP00000264126:A310V	A	+	2	0	GPSM2	109246066	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	3.893000	0.56243	2.687000	0.91594	0.563000	0.77884	GCA	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.343	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	protein_coding	OTTHUMT00000032400.3	C	NM_013296	-		109444543	1	no_errors	ENST00000264126	ensembl	human	known	74_37	missense	SNP	0.995	T	T	109444543	C	T	109444543	3	4	16	1	0	0	0	0	1	0	0	0	6737	710	25	2	955	2	GPSM2	1	109444543	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		109444543	139806078	1	1091											
RUSC1	23623	genome.wustl.edu	37	chr1	155295207	155295207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcggacgggctgaagcCtttccggaaggacctcatca	15	11	2	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr1:155295207C>T	ENST00000368352.5	+	5	1785	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	RUSC1_ENST00000368354.3_Missense_Mutation_p.P545L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P135L|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_Missense_Mutation_p.P76L|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000292254.4_Missense_Mutation_p.P76L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	545	Interaction with TRAF6.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGCTGAAGCCTTTCCGGAAG	0.711											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000160753						9	11	10					1																	155295207		2197	4281	6478	RUSC1	SO:0001583	missense	0			-	HGNC	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1634C>T	1.37:g.155295207C>T	ENSP00000357336:p.Pro545Leu	Somatic	0	20	0	1769	0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	12	52.00	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP							pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.P545L	ENST00000368352.5	37	c.1634	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.217232	0.95104	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.72	4.72	0.59763	RUN (2);	0.000000	0.56097	D	0.000030	T	0.45836	0.1362	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;1.0;0.996	D;D;D;D;D;D	0.80764	0.994;0.994;0.966;0.988;0.99;0.975	T	0.44997	-0.9291	10	0.72032	D	0.01	-16.7772	17.8314	0.88684	0.0:1.0:0.0:0.0	.	43;76;76;135;150;545	B4DQB8;Q9BVN2-2;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;RUSC1_HUMAN	L	545;545;135;76;76	ENSP00000357338:P545L;ENSP00000357336:P545L;ENSP00000357331:P135L;ENSP00000357333:P76L;ENSP00000292254:P76L	ENSP00000292254:P76L	P	+	2	0	RUSC1	153561831	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	5.420000	0.66441	2.602000	0.87976	0.655000	0.94253	CCT	-	pfam_Run,pfscan_Run		0.711	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	protein_coding	OTTHUMT00000039071.1	C		-		155295207	1	no_errors	ENST00000368352	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155295207	C	T	155295207	3	4	16	1	0	0	0	0	1	0	0	0	13758	681	24	2	1779	2	RUSC1	1	155295207	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	45850664	155295207	93955414	2	1092											
RANBP2	5903	genome.wustl.edu	37	chr2	109384558	109384558	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatttggttcagagtctgtTaaaagcatttttagtagtga	10	3	2	2			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr2:109384558T>A	ENST00000283195.6	+	20	7689	c.7563T>A	c.(7561-7563)gtT>gtA	p.V2521V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2521					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGAGTCTGTTAAAAGCATTT	0.373																																																	0								ENSG00000153201						171	193	185					2																	109384558		2203	4298	6501	RANBP2	SO:0001819	synonymous_variant	0			-	HGNC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7563T>A	2.37:g.109384558T>A		Somatic	0	169	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	122	150	44.85	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP							pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.V2521	ENST00000283195.6	37	c.7563	CCDS2079.1	2																																																																																			-	NULL		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	protein_coding	OTTHUMT00000253594.1	T	NM_006267	-		109384558	1	no_errors	ENST00000283195	ensembl	human	known	74_37	silent	SNP	0.971	A	A	109384558	T	A	109384558	2	1	16	1	0	0	0	0	0	0	0	1	13036	1741	61	5		5	RANBP2	2	109384558	Silent	SNP	T	TCGA-3B-A9I1-01A-11D-A38Z-09		109384558	133814815	3	1093											
KCNH7	90134	genome.wustl.edu	37	chr2	163279793	163279793	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcttttattccattttgGctatcactataatgcctgcg	7	11	1	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr2:163279793G>A	ENST00000332142.5	-	9	2254				KCNH7_ENST00000328032.4_Missense_Mutation_p.A729V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTCCATTTTGGCTATCACTAT	0.418																																					GBM(196;1492 2208 17507 24132 45496)												0								ENSG00000184611						98	102	101					2																	163279793		2203	4300	6503	KCNH7	SO:0001627	intron_variant	0			-	HGNC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2154+52C>T	2.37:g.163279793G>A		Somatic	0	38	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	75	11.76	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.A729V	ENST00000332142.5	37	c.2186	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.631000	0.00813	.	.	ENSG00000184611	ENST00000328032	D	0.99557	-6.16	5.84	1.92	0.25849	.	.	.	.	.	D	0.97773	0.9269	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.96176	0.9127	8	0.44086	T	0.13	.	4.7663	0.13134	0.3153:0.0:0.5182:0.1666	.	729	Q9NS40-2	.	V	729	ENSP00000333781:A729V	ENSP00000333781:A729V	A	-	2	0	KCNH7	162988039	0.260000	0.24053	0.608000	0.28969	0.189000	0.23516	0.633000	0.24598	0.065000	0.16485	0.655000	0.94253	GCC	-	NULL		0.418	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	protein_coding	OTTHUMT00000255093.1	G	NM_033272	-		163279793	-1	no_errors	ENST00000328032	ensembl	human	known	74_37	missense	SNP	0.158	A	A	163279793	G	A	163279793	1	1	16	0	1	0	0	0	0	0	0	0	8039	1203	42	2		2	KCNH7	2	163279793	Intron	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	53895235	163279793	79919580	4	1094											
SNED1	25992	genome.wustl.edu	37	chr2	242002240	242002240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggtctcagccgtgcctgCatgggggctcttgtcaggac	15	13	3	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr2:242002240C>A	ENST00000310397.8	+	17	2290	c.2290C>A	c.(2290-2292)Cat>Aat	p.H764N	SNED1_ENST00000405547.3_Missense_Mutation_p.H764N|SNED1_ENST00000342631.6_Missense_Mutation_p.H764N|SNED1_ENST00000401884.1_Missense_Mutation_p.H764N|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	764	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GCCGTGCCTGCATGGGGGCTC	0.572																																																	0								ENSG00000162804						45	46	46					2																	242002240		2039	4191	6230	SNED1	SO:0001583	missense	0			-	HGNC	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.2290C>A	2.37:g.242002240C>A	ENSP00000308893:p.His764Asn	Somatic	0	68	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.H764N	ENST00000310397.8	37	c.2290	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302362	0.01353	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.96	2.9	0.33743	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.636305	0.14019	N	0.346934	T	0.70029	0.3177	N	0.01096	-1.015	0.30534	N	0.767161	B	0.06786	0.001	B	0.06405	0.002	T	0.61252	-0.7100	10	0.02654	T	1	.	11.2391	0.48958	0.6358:0.3641:0.0:0.0	.	764	Q8TER0	SNED1_HUMAN	N	764	ENSP00000384871:H764N;ENSP00000386007:H764N;ENSP00000308893:H764N;ENSP00000342992:H764N	ENSP00000308893:H764N	H	+	1	0	SNED1	241650913	1.000000	0.71417	0.944000	0.38274	0.184000	0.23303	2.621000	0.46418	1.048000	0.40298	0.655000	0.94253	CAT	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.572	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	C	XM_059482	-		242002240	1	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	SNP	0.998	A	A	242002240	C	A	242002240	3	1	16	1	0	0	0	0	1	0	0	0	14853	710	25	3	2356	3	SNED1	2	242002240	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	78722447	242002240	1197133	5	1095											
PFKFB4	5210	genome.wustl.edu	37	chr3	48581056	48581056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggaaccgccggacgtcaCggagggctgccagggcacac	15	13	1	0	rs147704999		TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr3:48581056C>T	ENST00000232375.3	-	4	447	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R101H|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R78H|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R112H|PFKFB4_ENST00000545984.1_Intron|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R112H	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	112	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCGGACGTCACGGAGGGCTGC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		16979	0		0	False		,,,				2504	0																0								ENSG00000114268	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	60	47	51		335	3	0.2	3	dbSNP_134	51	0,8600		0,0,4300	yes	missense	PFKFB4	NM_004567.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	112/470	48581056	2,13004	2203	4300	6503	PFKFB4	SO:0001583	missense	0			-	HGNC	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.335G>A	3.37:g.48581056C>T	ENSP00000232375:p.Arg112His	Somatic	0	25	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	13	59.38	Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP							pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R112H	ENST00000232375.3	37	c.335	CCDS2771.1	3	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985494	0.18889	4.54E-4	0.0	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531;ENST00000412035;ENST00000422701	.	.	.	4.79	2.97	0.34412	6-phosphofructo-2-kinase (1);	0.536304	0.20625	N	0.088692	T	0.42404	0.1201	L	0.48642	1.525	0.37603	D	0.920636	B;B;B;B	0.33266	0.02;0.404;0.234;0.001	B;B;B;B	0.32533	0.031;0.147;0.034;0.001	T	0.45454	-0.9260	9	0.72032	D	0.01	-8.8723	6.8769	0.24151	0.0:0.715:0.0:0.285	.	101;112;112;112	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	H	112;101;112;112;78;101;78;115	.	ENSP00000232375:R112H	R	-	2	0	PFKFB4	48556060	0.004000	0.15560	0.215000	0.23724	0.099000	0.18886	0.097000	0.15168	0.604000	0.29930	0.563000	0.77884	CGT	-	pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.632	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	protein_coding	OTTHUMT00000257503.2	C	NM_004567	rs147704999		48581056	-1	no_errors	ENST00000232375	ensembl	human	known	74_37	missense	SNP	0.462	T	T	48581056	C	T	48581056	3	4	16	1	0	0	0	0	1	0	0	0	11765	536	19	1	1118	1	PFKFB4	3	48581056	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		48581056	149441374	6	1096											
PLCH1	23007	genome.wustl.edu	37	chr3	155215120	155215120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccttaccgtcatccacaAtgtcctgagcggccacggag	9	15	1	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr3:155215120A>G	ENST00000340059.7	-	14	1846	c.1847T>C	c.(1846-1848)aTt>aCt	p.I616T	PLCH1_ENST00000414191.1_Missense_Mutation_p.I598T|PLCH1_ENST00000447496.2_Missense_Mutation_p.I616T|PLCH1_ENST00000334686.6_Missense_Mutation_p.I598T|PLCH1_ENST00000494598.1_Missense_Mutation_p.I616T|PLCH1_ENST00000460012.1_Missense_Mutation_p.I598T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	616	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCATCCACAATGTCCTGAGC	0.423																																																	0								ENSG00000114805						122	113	116					3																	155215120		2203	4300	6503	PLCH1	SO:0001583	missense	0			-	HGNC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1847T>C	3.37:g.155215120A>G	ENSP00000345988:p.Ile616Thr	Somatic	0	34	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	76	39.68	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.I616T	ENST00000340059.7	37	c.1847	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389043	0.61956	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.326488	0.36409	N	0.002616	T	0.56108	0.1963	L	0.28054	0.825	0.42088	D	0.991282	D;D;P	0.71674	0.998;0.987;0.837	D;D;P	0.69142	0.962;0.95;0.535	T	0.59236	-0.7492	10	0.52906	T	0.07	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	598;616;616	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	T	616;598;616;616;598;598	ENSP00000419100:I616T;ENSP00000417502:I598T;ENSP00000402759:I616T;ENSP00000345988:I616T;ENSP00000335469:I598T;ENSP00000412977:I598T	ENSP00000335469:I598T	I	-	2	0	PLCH1	156697814	1.000000	0.71417	0.982000	0.44146	0.916000	0.54674	5.062000	0.64326	2.191000	0.70037	0.533000	0.62120	ATT	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	A	NM_014996	-		155215120	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	SNP	0.956	G	G	155215120	A	G	155215120	3	3	16	1	0	0	0	0	1	0	0	0	12039	101	4	5	3289	5	PLCH1	3	155215120	Missense_Mutation	SNP	A	TCGA-3B-A9I1-01A-11D-A38Z-09	106634064	155215120	42807310	7	1097											
CEP135	9662	genome.wustl.edu	37	chr4	56865763	56865763	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaggagactgtagaTgagaagacagaaaagattgc	11	6	1	6			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr4:56865763T>C	ENST00000257287.4	+	17	2356	c.2232T>C	c.(2230-2232)gaT>gaC	p.D744D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	744					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGACTGTAGATGAGAAGACAG	0.338																																																	0								ENSG00000174799						71	79	76					4																	56865763		2203	4300	6503	CEP135	SO:0001819	synonymous_variant	0			-	HGNC	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2232T>C	4.37:g.56865763T>C		Somatic	0	74	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	102	22.73	B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP							superfamily_Prefoldin,superfamily_EB1_C	p.D744	ENST00000257287.4	37	c.2232	CCDS33986.1	4																																																																																			-	NULL		0.338	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	protein_coding	OTTHUMT00000362092.2	T	NM_025009	-		56865763	1	no_errors	ENST00000257287	ensembl	human	known	74_37	silent	SNP	1.000	C	C	56865763	T	C	56865763	2	2	16	1	0	0	0	0	0	0	0	1	3249	1461	51	5		5	CEP135	4	56865763	Silent	SNP	T	TCGA-3B-A9I1-01A-11D-A38Z-09		56865763	134288513	8	1098											
TLL1	7092	genome.wustl.edu	37	chr4	166910546	166910546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttagctgtattttggggCgatattgccttagatgatga	11	4	0	3			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr4:166910546C>T	ENST00000061240.2	+	2	830	c.183C>T	c.(181-183)ggC>ggT	p.G61G	TLL1_ENST00000513213.1_Silent_p.G61G|TLL1_ENST00000507499.1_Silent_p.G61G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	61					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATTTTGGGGCGATATTGCCT	0.318																																																	0								ENSG00000038295						94	94	94					4																	166910546		2203	4300	6503	TLL1	SO:0001819	synonymous_variant	0			-	HGNC	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.183C>T	4.37:g.166910546C>T		Somatic	0	23	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	63	46.15	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP							pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G61	ENST00000061240.2	37	c.183	CCDS3811.1	4																																																																																			-	pirsf_BMP_1/tolloid-like		0.318	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	protein_coding	OTTHUMT00000363821.1	C		-		166910546	1	no_errors	ENST00000061240	ensembl	human	known	74_37	silent	SNP	0.996	T	T	166910546	C	T	166910546	2	4	16	1	0	0	0	0	0	0	0	1	15952	755	27	1		1	TLL1	4	166910546	Silent	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	110044783	166910546	24243730	9	1099											
TRIML1	339976	genome.wustl.edu	37	chr4	189063511	189063511	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagctactagaacaggaaGagaaagagaacatgaggaag	12	6	0	4			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr4:189063511G>T	ENST00000332517.3	+	3	750	c.610G>T	c.(610-612)Gag>Tag	p.E204*	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	204					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGAACAGGAAGAGAAAGAGAA	0.433																																					Melanoma(31;213 1036 16579 23968 32372)												0								ENSG00000184108						113	113	113					4																	189063511		2203	4300	6503	TRIML1	SO:0001587	stop_gained	0			-	HGNC	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.610G>T	4.37:g.189063511G>T	ENSP00000327738:p.Glu204*	Somatic	0	39	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	Q96BE5	Nonsense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.E204*	ENST00000332517.3	37	c.610	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847861	0.71603	.	.	ENSG00000184108	ENST00000332517	.	.	.	5.04	5.04	0.67666	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-25.2673	16.3059	0.82848	0.0:0.0:1.0:0.0	.	.	.	.	X	204	.	ENSP00000327738:E204X	E	+	1	0	TRIML1	189300505	0.980000	0.34600	0.287000	0.24848	0.030000	0.12068	2.254000	0.43214	2.788000	0.95919	0.650000	0.86243	GAG	-	NULL		0.433	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	protein_coding	OTTHUMT00000359813.1	G	NM_178556	-		189063511	1	no_errors	ENST00000332517	ensembl	human	known	74_37	nonsense	SNP	0.823	T	T	189063511	G	T	189063511	4	4	16	1	0	0	0	0	0	1	0	0	16557	943	33	3	620	3	TRIML1	4	189063511	Nonsense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	22152965	189063511	2090765	10	1100											
ROS1	6098	genome.wustl.edu	37	chr6	117737431	117737431	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatacttacacactttaaaGcacagtttttctgatctaca	3	9	2	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr6:117737431G>C	ENST00000368508.3	-	3	416	c.218C>G	c.(217-219)gCt>gGt	p.A73G	ROS1_ENST00000368507.3_Missense_Mutation_p.A73G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	73					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACACTTTAAAGCACAGTTTTT	0.343			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0								ENSG00000047936						78	75	76					6																	117737431		2203	4300	6503	ROS1	SO:0001583	missense	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.218C>G	6.37:g.117737431G>C	ENSP00000357494:p.Ala73Gly	Somatic	0	29	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	28	51.72	Q15368|Q5TDB5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A73G	ENST00000368508.3	37	c.218	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373247	0.42105	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71461	-0.55;-0.57	3.59	3.59	0.41128	.	0.407783	0.20808	N	0.085315	T	0.44265	0.1285	L	0.51422	1.61	0.80722	D	1	P	0.34522	0.455	B	0.28784	0.094	T	0.42699	-0.9436	10	0.19147	T	0.46	.	11.0301	0.47767	0.0:0.0:1.0:0.0	.	73	P08922	ROS1_HUMAN	G	73	ENSP00000357494:A73G;ENSP00000357493:A73G	ENSP00000357493:A73G	A	-	2	0	ROS1	117844124	1.000000	0.71417	0.983000	0.44433	0.934000	0.57294	3.108000	0.50337	2.301000	0.77427	0.655000	0.94253	GCT	-	NULL		0.343	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G		-		117737431	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	SNP	0.990	C	C	117737431	G	C	117737431	3	2	16	1	0	0	0	0	1	0	0	0	13539	971	34	4	6989	4	ROS1	6	117737431	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		117737431	53377636	11	1101											
C7orf27	221927	genome.wustl.edu	37	chr7	2581443	2581443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgtccaccgtcgtgGcatcgtctgccgtcccgtcc	13	15	1	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr7:2581443G>A	ENST00000340611.4	-	8	1299	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	348					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CACCGTCGTGGCATCGTCTGC	0.682																																																	0								ENSG00000106009						32	40	38					7																	2581443		2203	4299	6502	BRAT1	SO:0001583	missense	0			-	HGNC	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1043C>T	7.37:g.2581443G>A	ENSP00000339637:p.Ala348Val	Somatic	0	104	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	22	69.01	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold	p.A348V	ENST00000340611.4	37	c.1043	CCDS5334.1	7	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833648	0.32421	.	.	ENSG00000106009	ENST00000340611	D	0.90004	-2.6	5.0	3.16	0.36331	Armadillo-type fold (1);	0.711869	0.14355	N	0.324810	T	0.76688	0.4022	N	0.14661	0.345	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.62329	-0.6877	10	0.26408	T	0.33	-5.366	9.2887	0.37773	0.1713:0.0:0.8287:0.0	.	348	Q6PJG6	BRAT1_HUMAN	V	348	ENSP00000339637:A348V	ENSP00000339637:A348V	A	-	2	0	BRAT1	2547969	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	1.790000	0.38734	0.604000	0.29930	0.462000	0.41574	GCC	-	superfamily_ARM-type_fold		0.682	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	protein_coding	OTTHUMT00000239305.2	G	NM_152743	-		2581443	-1	no_errors	ENST00000340611	ensembl	human	known	74_37	missense	SNP	0.002	A	A	2581443	G	A	2581443	3	1	16	1	0	0	0	0	1	0	0	0	2384	1203	42	2	1450	2	C7orf27	7	2581443	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		2581443	156557220	12	1102											
SSPO	23145	genome.wustl.edu	37	chr7	149477097	149477097	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctctttgcctactgcgcagGggccatggcaggcagtgggc	15	12	1	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr7:149477097G>C	ENST00000378016.2	+	0	1274							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TACTGCGCAGGGGCCATGGCA	0.637																																																	0								ENSG00000197558						33	34	34					7																	149477097		2023	4177	6200	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477097G>C		Somatic	0	63	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	48	12.73	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.637	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		G		-		149477097	1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	0.034	C	C	149477097	G	C	149477097	1	2	16	0	1	0	0	0	0	0	0	0	15196	1232	43	4		4	SSPO	7	149477097	RNA	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	146895654	149477097	9661566	13	1103											
KCNH2	3757	genome.wustl.edu	37	chr7	150655495	150655503	+	In_Frame_Del	DEL	CGCCCGCGC	CGCCCGCGC	-													caccaccacggcccccggggCgcccgcgccgcccgcgccgc					rs551056698|rs150817714	byFrequency	TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	CGCCCGCGC	CGCCCGCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr7:150655495_150655503delCGCCCGCGC	ENST00000262186.5	-	4	961_969	c.560_568delGCGCGGGCG	c.(559-570)ggcgcgggcgcc>gcc	p.GAG187del	KCNH2_ENST00000330883.4_5'Flank|KCNH2_ENST00000430723.3_In_Frame_Del_p.GAG187del|KCNH2_ENST00000392968.2_In_Frame_Del_p.GAG91del	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	187					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)	gcccccggggcgcccgcgccgcccgcgcc	0.761														14	0.00279553	0.0091	0	5008	,	,		8391	0		0.001	False		,,,				2504	0.001				GBM(137;110 1844 13671 20123 45161)												0			GRCh37	CX057283	KCNH2	X		ENSG00000055118		,	13,653		6,1,326					,	3.6	0.6			1	14,1786		7,0,893	no	coding,coding	KCNH2	NM_172056.2,NM_000238.3	,	13,1,1219	A1A1,A1R,RR		0.7778,1.952,1.0949	,	,		27,2439				KCNH2	SO:0001651	inframe_deletion	0				HGNC	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.560_568delGCGCGGGCG	7.37:g.150655504_150655512delCGCCCGCGC	ENSP00000262186:p.Gly187_Gly189del	Somatic					0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	In_Frame_Del	DEL							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.GAG187in_frame_del	ENST00000262186.5	37	c.568_560	CCDS5910.1	7																																																																																			-	NULL		0.761	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	protein_coding	OTTHUMT00000350741.2	CGCCCGCGC	NM_000238			150655503	-1	no_errors	ENST00000262186	ensembl	human	known	74_37	in_frame_del	DEL	0.728:0.003:0.030:0.030:0.005:0.007:0.000:0.000:0.006	-	-	150655503	CGCCCGCGC	-	150655495	7	5	16	1	0	1	0	1	0	0	0	0	8034	768	27	0	3340	0	KCNH2	7	150655495	In_Frame_Del	DEL	CGCCCGCGC	TCGA-3B-A9I1-01A-11D-A38Z-09	1178398	150655495	8483168	14	1104											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760424	154760424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggaactgctgctgcaggGcatgctgctgctgaaagggc	16	9	0	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr7:154760424G>T	ENST00000404141.1	-	7	1641	c.1487C>A	c.(1486-1488)gCc>gAc	p.A496D	PAXIP1_ENST00000397192.1_Missense_Mutation_p.A496D|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	496	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ctgctgcagggcatgctgctg	0.597																																																	0								ENSG00000157212						30	35	33					7																	154760424		1789	3252	5041	PAXIP1	SO:0001583	missense	0			-	HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1487C>A	7.37:g.154760424G>T	ENSP00000384048:p.Ala496Asp	Somatic	0	34	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A496D	ENST00000404141.1	37	c.1487	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	7.128	0.579362	0.13686	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	T;T	0.18502	2.21;2.21	4.77	4.77	0.60923	.	0.364794	0.18868	U	0.128928	T	0.12390	0.0301	L	0.27053	0.805	0.29002	N	0.887429	B;P;P;B	0.40107	0.435;0.703;0.703;0.435	B;B;B;B	0.42692	0.172;0.395;0.395;0.172	T	0.05599	-1.0875	10	0.10377	T	0.69	-6.4785	8.8807	0.35374	0.1703:0.0:0.8297:0.0	.	449;405;462;496	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	D	496;496;449	ENSP00000384048:A496D;ENSP00000380376:A496D	ENSP00000319149:A449D	A	-	2	0	PAXIP1	154391357	0.915000	0.31059	1.000000	0.80357	0.728000	0.41692	0.648000	0.24828	2.189000	0.69895	0.650000	0.86243	GCC	-	NULL		0.597	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	G	NM_007349	-		154760424	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	SNP	0.999	T	T	154760424	G	T	154760424	3	4	16	1	0	0	0	0	1	0	0	0	11489	1203	42	3	1782	3	PAXIP1	7	154760424	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	4104929	154760424	4378239	15	1105											
ADAM2	2515	genome.wustl.edu	37	chr8	39613417	39613417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttacatattaattttcCgcactgcagattgctataat	4	7	0	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr8:39613417C>T	ENST00000265708.4	-	16	1730	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R	ADAM2_ENST00000347580.4_Missense_Mutation_p.G524R|ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	543	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATTAATTTTCCGCACTGCAGA	0.244																																																	0								ENSG00000104755						43	47	46					8																	39613417		2201	4298	6499	ADAM2	SO:0001583	missense	0			-	HGNC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1627G>A	8.37:g.39613417C>T	ENSP00000265708:p.Gly543Arg	Somatic	0	106	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	128	131	49.42	P78326|Q9UQQ8	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G543R	ENST00000265708.4	37	c.1627	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305988	0.40795	.	.	ENSG00000104755	ENST00000347580;ENST00000265708	T;T	0.68479	-0.33;-0.33	4.8	4.8	0.61643	ADAM, cysteine-rich (2);	.	.	.	.	D	0.85927	0.5811	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89572	0.3814	8	.	.	.	.	13.7145	0.62689	0.0:1.0:0.0:0.0	.	524;543	Q99965-2;Q99965	.;ADAM2_HUMAN	R	524;543	ENSP00000343854:G524R;ENSP00000265708:G543R	.	G	-	1	0	ADAM2	39732574	1.000000	0.71417	0.981000	0.43875	0.053000	0.15095	3.061000	0.49963	2.356000	0.79943	0.655000	0.94253	GGA	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.244	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	protein_coding	OTTHUMT00000376926.1	C	NM_001464	-		39613417	-1	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39613417	C	T	39613417	3	4	16	1	0	0	0	0	1	0	0	0	241	661	23	1	600	1	ADAM2	8	39613417	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		39613417	106750605	16	1106											
RP1	6101	genome.wustl.edu	37	chr8	55541768	55541768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcagtggacaccctaCttgataataacagcagtgag	8	11	1	2			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr8:55541768C>A	ENST00000220676.1	+	4	5474	c.5326C>A	c.(5326-5328)Ctt>Att	p.L1776I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1776					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)			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)			GGACACCCTACTTGATAATAA	0.448																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						88	86	87					8																	55541768		2203	4299	6502	RP1	SO:0001583	missense	0			-	HGNC	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.5326C>A	8.37:g.55541768C>A	ENSP00000220676:p.Leu1776Ile	Somatic	0	22	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92		Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L1776I	ENST00000220676.1	37	c.5326	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232665	0.22626	.	.	ENSG00000104237	ENST00000220676	T	0.47528	0.84	5.93	4.04	0.47022	.	0.483083	0.17436	N	0.174308	T	0.40423	0.1116	M	0.61703	1.905	0.23550	N	0.997438	B	0.31680	0.335	B	0.26614	0.071	T	0.33292	-0.9874	10	0.42905	T	0.14	.	6.7469	0.23466	0.1382:0.6657:0.1259:0.0703	.	1776	P56715	RP1_HUMAN	I	1776	ENSP00000220676:L1776I	ENSP00000220676:L1776I	L	+	1	0	RP1	55704321	0.300000	0.24435	0.086000	0.20670	0.524000	0.34500	0.931000	0.28871	0.744000	0.32741	0.655000	0.94253	CTT	-	NULL		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	C	NM_006269	-		55541768	1	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	SNP	0.963	A	A	55541768	C	A	55541768	3	1	16	1	0	0	0	0	1	0	0	0	13540	565	20	3	5336	3	RP1	8	55541768	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	15928351	55541768	90822254	17	1107											
GBA2	57704	genome.wustl.edu	37	chr9	35740529	35740529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaccccccatcaccagtggGagagtccagctgtccatcct	9	16	1	2			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr9:35740529G>T	ENST00000378103.3	-	6	1646	c.1123C>A	c.(1123-1125)Ccc>Acc	p.P375T	GBA2_ENST00000378094.4_Missense_Mutation_p.P375T|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.P381T|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	375					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCACCAGTGGGAGAGTCCAGC	0.582																																																	0								ENSG00000070610						100	81	88					9																	35740529		2203	4300	6503	GBA2	SO:0001583	missense	0			-	HGNC	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1123C>A	9.37:g.35740529G>T	ENSP00000367343:p.Pro375Thr	Somatic	0	32	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP							pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.P381T	ENST00000378103.3	37	c.1141	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632282	0.29068	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.66	4.76	0.60689	Beta-glucosidase, GBA2 type, N-terminal (1);	0.105390	0.64402	D	0.000003	T	0.45518	0.1346	L	0.52573	1.65	0.80722	D	1	P;B;B	0.35575	0.51;0.007;0.092	B;B;B	0.32864	0.154;0.022;0.048	T	0.29610	-1.0006	9	0.15499	T	0.54	-7.2882	9.7741	0.40607	0.075:0.1383:0.7867:0.0	.	381;375;375	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	T	375;375;381	.	ENSP00000367334:P375T	P	-	1	0	GBA2	35730529	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	4.042000	0.57347	2.676000	0.91093	0.655000	0.94253	CCC	-	pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	protein_coding	OTTHUMT00000055456.1	G	NM_020944	-		35740529	-1	no_errors	ENST00000545786	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35740529	G	T	35740529	3	4	16	1	0	0	0	0	1	0	0	0	6269	1174	41	3	1708	3	GBA2	9	35740529	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		35740529	105472902	18	1108											
FAM75A6	389730	genome.wustl.edu	37	chr9	43627588	43627588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcatccaatgatttagCcaaattccccaaagaattta	4	11	1	2			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr9:43627588C>T	ENST00000332857.6	-	4	1127	c.1099G>A	c.(1099-1101)Gct>Act	p.A367T	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	367					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATGATTTAGCCAAATTCCCC	0.433																																																	0								ENSG00000185775						1	1	1					9																	43627588		200	552	752	SPATA31A6	SO:0001583	missense	0			-	HGNC		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1099G>A	9.37:g.43627588C>T	ENSP00000329825:p.Ala367Thr	Somatic	0	222	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	155	15	91.18		Missense_Mutation	SNP							NULL	p.A367T	ENST00000332857.6	37	c.1099	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	C	7.925	0.739409	0.15642	.	.	ENSG00000185775	ENST00000332857	T	0.03689	3.84	2.34	-0.153	0.13403	.	3.155640	0.01046	N	0.004381	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41502	-0.9505	10	0.17369	T	0.5	0.5929	3.05	0.06166	0.5004:0.3286:0.171:0.0	.	367	Q5VVP1	F75A6_HUMAN	T	367	ENSP00000329825:A367T	ENSP00000329825:A367T	A	-	1	0	FAM75A6	43567584	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.866000	0.04245	-0.043000	0.13513	0.449000	0.29647	GCT	-	NULL		0.433	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	protein_coding	OTTHUMT00000036987.1	C	NM_001145196	-		43627588	-1	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	SNP	0.001	T	T	43627588	C	T	43627588	3	4	16	1	0	0	0	0	1	0	0	0	5624	739	26	2	2936	2	FAM75A6	9	43627588	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	7887059	43627588	97585843	19	1109											
SEC31B	25956	genome.wustl.edu	37	chr10	102258919	102258919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actggactcctaccacacctGgctgcagaaggcctgttgtc	10	14	0	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr10:102258919G>C	ENST00000370345.3	-	13	1679	c.1582C>G	c.(1582-1584)Cag>Gag	p.Q528E	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	528					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TACCACACCTGGCTGCAGAAG	0.542																																																	0								ENSG00000075826						124	95	105					10																	102258919		2203	4300	6503	SEC31B	SO:0001583	missense	0			-	HGNC	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1582C>G	10.37:g.102258919G>C	ENSP00000359370:p.Gln528Glu	Somatic	0	19	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q528E	ENST00000370345.3	37	c.1582	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	2.352	-0.348677	0.05208	.	.	ENSG00000075826	ENST00000370345	T	0.50001	0.76	4.89	3.97	0.46021	.	0.466412	0.23953	N	0.042932	T	0.36690	0.0976	L	0.56396	1.775	0.58432	D	0.999999	B;B	0.31790	0.34;0.149	B;B	0.30251	0.113;0.053	T	0.18335	-1.0340	10	0.02654	T	1	-6.379	10.1633	0.42864	0.0:0.0:0.6376:0.3624	.	527;528	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	E	528	ENSP00000359370:Q528E	ENSP00000359370:Q528E	Q	-	1	0	SEC31B	102248909	0.933000	0.31639	0.851000	0.33527	0.083000	0.17756	1.332000	0.33805	1.263000	0.44181	0.555000	0.69702	CAG	-	NULL		0.542	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	protein_coding	OTTHUMT00000051198.1	G	NM_015490	-		102258919	-1	no_errors	ENST00000370345	ensembl	human	known	74_37	missense	SNP	0.760	C	C	102258919	G	C	102258919	3	2	16	1	0	0	0	0	1	0	0	0	14007	1357	47	4	2013	4	SEC31B	10	102258919	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		102258919	33275828	20	1110											
PHRF1	57661	genome.wustl.edu	37	chr11	605246	605246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctgctgagagcggatattgGagctgcctctctgtctctgt	13	10	2	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr11:605246G>T	ENST00000264555.5	+	11	1408	c.1280G>T	c.(1279-1281)gGa>gTa	p.G427V	PHRF1_ENST00000416188.2_Missense_Mutation_p.G427V|PHRF1_ENST00000533464.1_Missense_Mutation_p.G423V|PHRF1_ENST00000413872.2_Missense_Mutation_p.G426V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	427					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCGGATATTGGAGCTGCCTCT	0.612																																																	0								ENSG00000070047						70	78	76					11																	605246		2039	4190	6229	PHRF1	SO:0001583	missense	0			-	HGNC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1280G>T	11.37:g.605246G>T	ENSP00000264555:p.Gly427Val	Somatic	0	32	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G427V	ENST00000264555.5	37	c.1280		11	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227735	0.58668	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.87029	-2.14;-2.2;-2.16;-2.16	4.65	4.65	0.58169	.	0.000000	0.37393	N	0.002119	D	0.89989	0.6875	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.90259	0.4299	10	0.46703	T	0.11	-24.7097	17.7029	0.88300	0.0:0.0:1.0:0.0	.	423;426;427;427	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	427;426;427;423	ENSP00000264555:G427V;ENSP00000388589:G426V;ENSP00000410626:G427V;ENSP00000431870:G423V	ENSP00000264555:G427V	G	+	2	0	PHRF1	595246	1.000000	0.71417	0.762000	0.31397	0.116000	0.19942	8.911000	0.92721	2.398000	0.81561	0.563000	0.77884	GGA	-	NULL		0.612	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	protein_coding	OTTHUMT00000382133.1	G	NM_020901	-		605246	1	no_errors	ENST00000264555	ensembl	human	known	74_37	missense	SNP	1.000	T	T	605246	G	T	605246	3	4	16	1	0	0	0	0	1	0	0	0	11863	1174	41	3	1318	3	PHRF1	11	605246	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		605246	134401270	21	1111											
LTBP3	4054	genome.wustl.edu	37	chr11	65325326	65325334	+	In_Frame_Del	DEL	CAGCAGCAG	CAGCAGCAG	-													tcgaccctgccgcccaggccCagcagcagcagcagcagcag					rs577530923	byFrequency	TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	CAGCAGCAG	CAGCAGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr11:65325326_65325334delCAGCAGCAG	ENST00000301873.5	-	1	365_373	c.97_105delCTGCTGCTG	c.(97-105)ctgctgctgdel	p.LLL33del	LTBP3_ENST00000322147.4_In_Frame_Del_p.LLL33del|LTBP3_ENST00000536982.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	33	Gly-rich.				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						cgcccaggcccagcagcagcagcagcagc	0.813														87	0.0173722	0.0635	0.0043	5008	,	,		4999	0		0	False		,,,				2504	0																0								ENSG00000168056																																			LTBP3	SO:0001651	inframe_deletion	0				HGNC	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.97_105delCTGCTGCTG	11.37:g.65325335_65325343delCAGCAGCAG	ENSP00000301873:p.Leu33_Leu35del	Somatic					0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.LLL33in_frame_del	ENST00000301873.5	37	c.105_97	CCDS44647.1	11																																																																																			-	NULL		0.813	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	CAGCAGCAG	NM_021070			65325334	-1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_del	DEL	0.996:0.996:0.995:0.995:0.994:0.994:0.993:0.995:0.997	-	-	65325334	CAGCAGCAG	-	65325326	7	5	16	1	0	1	0	1	0	0	0	0	9077	581	21	0	3918	0	LTBP3	11	65325326	In_Frame_Del	DEL	CAGCAGCAG	TCGA-3B-A9I1-01A-11D-A38Z-09	64720080	65325326	69681190	22	1112											
MMP3	4314	genome.wustl.edu	37	chr11	102708089	102708089	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagtcttcagctatttGcttgggaaagcctggctcca	11	9	2	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr11:102708089G>C	ENST00000299855.5	-	9	1529	c.1273C>G	c.(1273-1275)Caa>Gaa	p.Q425E	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	425					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCAGCTATTTGCTTGGGAAAG	0.413																																																	0								ENSG00000149968						142	145	144					11																	102708089		2203	4299	6502	MMP3	SO:0001583	missense	0			-	HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1273C>G	11.37:g.102708089G>C	ENSP00000299855:p.Gln425Glu	Somatic	0	12	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.Q425E	ENST00000299855.5	37	c.1273	CCDS8323.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.654|5.654	0.305265|0.305265	0.10678|0.10678	.|.	.|.	ENSG00000149968|ENSG00000149968	ENST00000299855|ENST00000434103	T|.	0.02395|.	4.31|.	5.17|5.17	-8.1|-8.1	0.01086|0.01086	Hemopexin/matrixin (2);|.	1.424740|.	0.05080|.	N|.	0.483202|.	T|T	0.37183|0.37183	0.0994|0.0994	N|N	0.17723|0.17723	0.515|0.515	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.15870|.	0.014|.	T|T	0.27938|0.27938	-1.0059|-1.0059	10|5	0.07813|.	T|.	0.8|.	.|.	21.4997|21.4997	0.99955|0.99955	0.0:0.0:0.2121:0.7879|0.0:0.0:0.2121:0.7879	.|.	425|.	P08254|.	MMP3_HUMAN|.	E|R	425|68	ENSP00000299855:Q425E|.	ENSP00000299855:Q425E|.	Q|S	-|-	1|3	0|2	MMP3|MMP3	102213299|102213299	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.436000|0.436000	0.31835|0.31835	-0.796000|-0.796000	0.04575|0.04575	-0.938000|-0.938000	0.03714|0.03714	0.655000|0.655000	0.94253|0.94253	CAA|AGC	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.413	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	G	NM_002422	-		102708089	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	missense	SNP	0.000	C	C	102708089	G	C	102708089	3	2	16	1	0	0	0	0	1	0	0	0	9668	1328	46	4	168	4	MMP3	11	102708089	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	37382763	102708089	32298427	23	1113											
KRT71	112802	genome.wustl.edu	37	chr12	52942539	52942539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtccatggattccaccttGgcctgcagttccaccttatt	8	13	0	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr12:52942539G>T	ENST00000267119.5	-	4	828	c.759C>A	c.(757-759)gcC>gcA	p.A253A		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	253	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ATTCCACCTTGGCCTGCAGTT	0.542																																																	0								ENSG00000139648						195	156	169					12																	52942539		2203	4300	6503	KRT71	SO:0001819	synonymous_variant	0			-	HGNC	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.759C>A	12.37:g.52942539G>T		Somatic	0	45	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KVC1|Q3SY85|Q96DU2	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.A253	ENST00000267119.5	37	c.759	CCDS8831.1	12																																																																																			-	pfam_IF		0.542	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	protein_coding	OTTHUMT00000396487.1	G	NM_033448	-		52942539	-1	no_errors	ENST00000267119	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52942539	G	T	52942539	2	4	16	1	0	0	0	0	0	0	0	1	8486	1335	47	3		3	KRT71	12	52942539	Silent	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		52942539	80909356	24	1114											
TDRD3	81550	genome.wustl.edu	37	chr13	61103259	61103260	+	Frame_Shift_Ins	INS	-	-	A													atctgggccaattaagccagINSaaaaaatactagaatcatct							TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr13:61103259_61103260insA	ENST00000196169.3	+	11	2409_2410	c.1621_1622insA	c.(1621-1623)gaafs	p.E541fs	TDRD3_ENST00000535286.1_Frame_Shift_Ins_p.E634fs|TDRD3_ENST00000377881.2_Frame_Shift_Ins_p.E541fs|TDRD3_ENST00000377894.2_Frame_Shift_Ins_p.E541fs	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	541					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AATTAAGCCAGAAAAAATACTA	0.401																																					Colon(36;164 906 35820 50723)												0								ENSG00000083544																																			TDRD3	SO:0001589	frameshift_variant	0				HGNC	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1627dupA	13.37:g.61103265_61103265dupA	ENSP00000196169:p.Glu541fs	Somatic	0	73	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	108	11.48	B2MWP9|Q53XA6|Q6P992	Frame_Shift_Ins	INS							pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.I636fs	ENST00000196169.3	37	c.1900_1901	CCDS9441.1	13																																																																																			-	NULL		0.401	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	protein_coding	OTTHUMT00000045175.2	-	NM_030794			61103260	1	no_errors	ENST00000535286	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	61103260	-	A	61103259	7	5	16	1	0	1	1	0	0	0	0	0	15739	943	33	0	1942	0	TDRD3	13	61103259	Frame_Shift_Ins	INS	-	TCGA-3B-A9I1-01A-11D-A38Z-09		61103259	54066619	25	1115											
YLPM1	56252	genome.wustl.edu	37	chr14	75265723	75265723	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagatgatacactagagctCtataacagagaggacaggtt	10	7	1	4			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr14:75265723C>A	ENST00000325680.7	+	5	3847	c.3723C>A	c.(3721-3723)ctC>ctA	p.L1241L	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.L1046L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1046					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACTAGAGCTCTATAACAGAG	0.483																																																	0								ENSG00000119596						88	82	84					14																	75265723		2018	4174	6192	YLPM1	SO:0001819	synonymous_variant	0			-	HGNC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3723C>A	14.37:g.75265723C>A		Somatic	0	37	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	P49752|Q96I64|Q9P1V7	Silent	SNP							superfamily_P-loop_NTPase	p.L1241	ENST00000325680.7	37	c.3723	CCDS45135.1	14																																																																																			-	NULL		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	protein_coding	OTTHUMT00000404451.1	C	NM_019589	-		75265723	1	no_errors	ENST00000325680	ensembl	human	known	74_37	silent	SNP	0.858	A	A	75265723	C	A	75265723	2	1	16	1	0	0	0	0	0	0	0	1	17493	900	32	3		3	YLPM1	14	75265723	Silent	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		75265723	32083817	26	1116											
IGF1R	3480	genome.wustl.edu	37	chr15	99456289	99456289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaccctttaagaatgtcAcagagtatgatgggcaggat	11	7	2	4			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr15:99456289A>G	ENST00000268035.6	+	8	2217	c.1606A>G	c.(1606-1608)Aca>Gca	p.T536A	IGF1R_ENST00000558762.1_Missense_Mutation_p.T536A	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	536	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TAAGAATGTCACAGAGTATGA	0.522																																																	0								ENSG00000140443						48	47	47					15																	99456289		2197	4297	6494	IGF1R	SO:0001583	missense	0			-	HGNC	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1606A>G	15.37:g.99456289A>G	ENSP00000268035:p.Thr536Ala	Somatic	0	35	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	26	49.02	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP							pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.T536A	ENST00000268035.6	37	c.1606	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179434	0.57800	.	.	ENSG00000140443	ENST00000268035	T	0.70869	-0.52	4.64	4.64	0.57946	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	T	0.72566	0.3476	M	0.74546	2.27	0.80722	D	1	P;P	0.44877	0.845;0.84	B;B	0.42653	0.226;0.394	T	0.78720	-0.2094	10	0.87932	D	0	.	14.5204	0.67847	1.0:0.0:0.0:0.0	.	536;536	C9J5X1;P08069	.;IGF1R_HUMAN	A	536	ENSP00000268035:T536A	ENSP00000268035:T536A	T	+	1	0	IGF1R	97273812	1.000000	0.71417	0.712000	0.30502	0.967000	0.64934	9.068000	0.93961	2.084000	0.62774	0.383000	0.25322	ACA	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.522	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	protein_coding	OTTHUMT00000313537.2	A	NM_000875	-		99456289	1	no_errors	ENST00000268035	ensembl	human	known	74_37	missense	SNP	1.000	G	G	99456289	A	G	99456289	3	3	16	1	0	0	0	0	1	0	0	0	7573	159	6	5	1636	5	IGF1R	15	99456289	Missense_Mutation	SNP	A	TCGA-3B-A9I1-01A-11D-A38Z-09		99456289	3075103	27	1117											
MYH11	4629	genome.wustl.edu	37	chr16	15797882	15797882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttccattgaagtctgcgTctcgagtgtccgtttcctcc	10	12	2	1	rs112999816	byFrequency	TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr16:15797882T>C	ENST00000300036.5	-	41	5994	c.5885A>G	c.(5884-5886)gAc>gGc	p.D1962G	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000573908.1_5'UTR|MYH11_ENST00000576790.2_3'UTR|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.D1969G|MYH11_ENST00000452625.2_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1962	C-terminal.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAAGTCTGCGTCTCGAGTGTC	0.438			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0								ENSG00000133392						229	223	225					16																	15797882		2197	4300	6497	MYH11	SO:0001583	missense	0			-	HGNC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5885A>G	16.37:g.15797882T>C	ENSP00000300036:p.Asp1962Gly	Somatic	0	68	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	47	62.70	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.D1969G	ENST00000300036.5	37	c.5906	CCDS10565.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.31|12.31	1.898263|1.898263	0.33535|0.33535	.|.	.|.	ENSG00000133392|ENSG00000133392	ENST00000300036;ENST00000396324|ENST00000396320	D;D|.	0.85484|.	-1.99;-1.99|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.53938|.	D|.	0.000057|.	T|T	0.45756|0.45756	0.1358|0.1358	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.52631|0.52631	-0.8550|-0.8550	10|6	0.28530|0.66056	T|D	0.3|0.02	.|.	12.8502|12.8502	0.57852|0.57852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1962;1969|.	P35749;Q3MNF1|.	MYH11_HUMAN;.|.	G|A	1962;1969|1982	ENSP00000300036:D1962G;ENSP00000379616:D1969G|.	ENSP00000300036:D1962G|ENSP00000379613:T1982A	D|T	-|-	2|1	0|0	MYH11|MYH11	15705383|15705383	0.997000|0.997000	0.39634|0.39634	0.127000|0.127000	0.21898|0.21898	0.705000|0.705000	0.40729|0.40729	4.740000|4.740000	0.62087|0.62087	2.053000|2.053000	0.61076|0.61076	0.459000|0.459000	0.35465|0.35465	GAC|ACG	-	NULL		0.438	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	protein_coding	OTTHUMT00000252192.2	T	NM_001040113	rs112999816		15797882	-1	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	SNP	0.817	C	C	15797882	T	C	15797882	3	2	16	1	0	0	0	0	1	0	0	0	10033	1667	58	5	37	5	MYH11	16	15797882	Missense_Mutation	SNP	T	TCGA-3B-A9I1-01A-11D-A38Z-09		15797882	74556871	28	1118											
NLRC5	84166	genome.wustl.edu	37	chr16	57057759	57057759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagtgcaagaagcagCagctaggtgggtaccagtgt	16	7	0	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr16:57057759C>A	ENST00000262510.6	+	5	643	c.418C>A	c.(418-420)Cag>Aag	p.Q140K	NLRC5_ENST00000539144.1_Missense_Mutation_p.Q140K|NLRC5_ENST00000436936.1_Missense_Mutation_p.Q140K|NLRC5_ENST00000308149.7_Missense_Mutation_p.Q140K	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	140					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAAGAAGCAGCAGCTAGGTGG	0.607																																																	0								ENSG00000140853						33	29	30					16																	57057759		2198	4300	6498	NLRC5	SO:0001583	missense	0			-	HGNC	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.418C>A	16.37:g.57057759C>A	ENSP00000262510:p.Gln140Lys	Somatic	0	43	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.Q140K	ENST00000262510.6	37	c.418	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469298	0.63625	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.73258	-0.53;-0.56;-0.73;-0.56	4.77	3.81	0.43845	.	0.000000	0.32785	N	0.005657	T	0.67924	0.2945	M	0.71581	2.175	0.22918	N	0.998564	P	0.48503	0.911	B	0.43809	0.432	T	0.59526	-0.7438	10	0.20519	T	0.43	.	10.9905	0.47547	0.0:0.812:0.188:0.0	.	140	Q86WI3	NLRC5_HUMAN	K	140	ENSP00000262510:Q140K;ENSP00000308886:Q140K;ENSP00000389739:Q140K;ENSP00000441727:Q140K	ENSP00000262510:Q140K	Q	+	1	0	NLRC5	55615260	0.985000	0.35326	0.951000	0.38953	0.815000	0.46073	1.163000	0.31798	1.232000	0.43678	0.557000	0.71058	CAG	-	NULL		0.607	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	protein_coding	OTTHUMT00000257346.1	C	NM_032206	-		57057759	1	no_errors	ENST00000262510	ensembl	human	known	74_37	missense	SNP	0.999	A	A	57057759	C	A	57057759	3	1	16	1	0	0	0	0	1	0	0	0	10472	711	25	3	428	3	NLRC5	16	57057759	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	41259877	57057759	33296994	29	1119											
FAM65A	79567	genome.wustl.edu	37	chr16	67575479	67575479	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagcctggaagtcacatgGaggttggtggggctgagagg	18	7	2	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr16:67575479G>A	ENST00000379312.3	+	11	1081	c.960G>A	c.(958-960)tgG>tgA	p.W320*	FAM65A_ENST00000422602.2_Nonsense_Mutation_p.W336*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.W330*|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.W316*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.W336*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	320						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)		AAGTCACATGGAGGTTGGTGG	0.602																																																	0								ENSG00000039523						96	90	92					16																	67575479		2198	4300	6498	FAM65A	SO:0001587	stop_gained	0			-	HGNC	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.960G>A	16.37:g.67575479G>A	ENSP00000368614:p.Trp320*	Somatic	0	36	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	3	87.50	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP							superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.W336*	ENST00000379312.3	37	c.1008	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323615|4.323615	0.81580|0.81580	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.061177	.|0.64402	.|D	.|0.000001	T|.	0.45256|.	0.1333|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42189|.	-0.9466|.	3|.	.|0.02654	.|T	.|1	-8.7265|-8.7265	17.7596|17.7596	0.88461|0.88461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	311|320;316;336;330	.|.	.|ENSP00000042381:W316X	E|W	+|+	1|3	0|0	FAM65A|FAM65A	66132980|66132980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.458000|9.458000	0.97634|0.97634	2.177000|2.177000	0.69029|0.69029	0.555000|0.555000	0.69702|0.69702	GAG|TGG	-	NULL		0.602	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	G	NM_024519	-		67575479	1	no_errors	ENST00000422602	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	67575479	G	A	67575479	4	1	16	1	0	0	0	0	0	1	0	0	5601	1183	41	2	986	2	FAM65A	16	67575479	Nonsense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	10517720	67575479	22779274	30	1120											
GAN	8139	genome.wustl.edu	37	chr16	81391444	81391444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccacagcagcgatgcgatGcatgtgccctctctatgacc	9	15	1	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr16:81391444G>T	ENST00000568107.2	+	5	1043	c.881G>T	c.(880-882)tGc>tTc	p.C294F		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	294					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCGATGCGATGCATGTGCCCT	0.453																																					GBM(106;1239 1507 7582 9741 33976)												0								ENSG00000261609						191	165	174					16																	81391444		2202	4300	6502	GAN	SO:0001583	missense	0			-	HGNC	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.881G>T	16.37:g.81391444G>T	ENSP00000476795:p.Cys294Phe	Somatic	0	27	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C294F	ENST00000568107.2	37	c.881	CCDS10935.1	16	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800213	0.70567	.	.	ENSG00000127688	ENST00000248272	T	0.65732	-0.17	5.94	5.94	0.96194	Galactose oxidase, beta-propeller (1);	0.085063	0.85682	D	0.000000	T	0.69052	0.3068	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	T	0.70234	-0.4928	10	0.54805	T	0.06	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	294	Q9H2C0	GAN_HUMAN	F	294	ENSP00000248272:C294F	ENSP00000248272:C294F	C	+	2	0	GAN	79948945	1.000000	0.71417	0.915000	0.36163	0.959000	0.62525	9.610000	0.98337	2.812000	0.96745	0.557000	0.71058	TGC	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	protein_coding	OTTHUMT00000269050.3	G		-		81391444	1	no_errors	ENST00000568107	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81391444	G	T	81391444	3	4	16	1	0	0	0	0	1	0	0	0	6234	1319	46	3	899	3	GAN	16	81391444	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	13815965	81391444	8963309	31	1121											
TP53	7157	genome.wustl.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	11	14	1	0	rs397516437		TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000420246.2_Missense_Mutation_p.G244S|TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000359597.4_Missense_Mutation_p.G244S|TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000574684.1_5'Flank	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)						ENSG00000141510						147	111	123					17																	7577551		2203	4300	6503	TP53	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;	-	HGNC	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.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser	Somatic	0	47	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	4	89.47	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G244S	ENST00000269305.4	37	c.730	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577551	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577551	C	T	7577551	3	4	16	1	0	0	0	0	1	0	0	0	16388	623	22	2	560	2	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		7577551	73617659	32	1122											
CENPV	201161	genome.wustl.edu	37	chr17	16256372	16256372	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggagcttggcggcaccctCggaggtaagcttctgccgct	14	13	1	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr17:16256372C>A	ENST00000299736.4	-	1	441	c.379G>T	c.(379-381)Gag>Tag	p.E127*	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	130					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						GCGGCACCCTCGGAGGTAAGC	0.726																																																	0								ENSG00000166582						17	19	18					17																	16256372		2198	4290	6488	CENPV	SO:0001587	stop_gained	0			-	HGNC	AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"proline rich 6"	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.379G>T	17.37:g.16256372C>A	ENSP00000299736:p.Glu127*	Somatic	0	22	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	B2RPK2|Q3L8N5|Q8NFH6	Nonsense_Mutation	SNP							pfam_GFA/CENP-V,superfamily_Mss4-like	p.E127*	ENST00000299736.4	37	c.379	CCDS32575.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187454	0.57909	.	.	ENSG00000166582	ENST00000299736	.	.	.	2.99	0.836	0.18891	.	0.271414	0.26390	N	0.024655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.7305	0.23381	0.2017:0.6025:0.1958:0.0	.	.	.	.	X	127	.	ENSP00000299736:E127X	E	-	1	0	CENPV	16197097	1.000000	0.71417	0.706000	0.30403	0.097000	0.18754	3.931000	0.56529	0.034000	0.15491	-0.195000	0.12781	GAG	-	NULL		0.726	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPV	protein_coding	OTTHUMT00000131877.1	C	NM_181716	-		16256372	-1	no_errors	ENST00000299736	ensembl	human	known	74_37	nonsense	SNP	0.913	A	A	16256372	C	A	16256372	4	1	16	1	0	0	0	0	0	1	0	0	3245	893	31	3	459	3	CENPV	17	16256372	Nonsense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	8678821	16256372	64938838	33	1123											
AXIN2	8313	genome.wustl.edu	37	chr17	63533733	63533735	+	In_Frame_Del	DEL	TGG	TGG	-													gcagggagtggtactgcgaaTggtggtggtggtggtggtcc							TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	TGG	TGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr17:63533733_63533735delTGG	ENST00000375702.5	-	5	1527_1529	c.1419_1421delCCA	c.(1417-1422)caccat>cat	p.473_474HH>H	AXIN2_ENST00000307078.5_In_Frame_Del_p.473_474HH>H			Q9Y2T1	AXIN2_HUMAN	axin 2	473	Interaction with beta-catenin. {ECO:0000250}.|Poly-His.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTACTGCGAATGGTGGTGGTGGT	0.709									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0								ENSG00000168646																																			AXIN2	SO:0001651	inframe_deletion	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome		HGNC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1419_1421delCCA	17.37:g.63533742_63533744delTGG	ENSP00000364854:p.His474del	Somatic	0	24	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q3MJ88|Q9H3M6|Q9UH84	In_Frame_Del	DEL							pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.H474in_frame_del	ENST00000375702.5	37	c.1421_1419		17																																																																																			-	NULL		0.709	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	protein_coding	OTTHUMT00000445901.1	TGG	NM_004655			63533735	-1	no_errors	ENST00000307078	ensembl	human	known	74_37	in_frame_del	DEL	0.471:0.843:0.868	-	-	63533735	TGG	-	63533733	7	5	16	1	0	1	0	1	0	0	0	0	1237	1464	51	0	1134	0	AXIN2	17	63533733	In_Frame_Del	DEL	TGG	TCGA-3B-A9I1-01A-11D-A38Z-09	47277361	63533733	17661477	34	1124											
SLC38A10	124565	genome.wustl.edu	37	chr17	79257271	79257271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgatcacgacgtagaaggCgatgcaggtgcccagcatca	13	12	2	1	rs375294715		TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr17:79257271C>T	ENST00000374759.3	-	4	678	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A99T|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	99					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACGTAGAAGGCGATGCAGGTG	0.602																																																	0								ENSG00000157637	C	THR/ALA,THR/ALA	1,4393	2.1+/-5.4	0,1,2196	74	53	60		295,295	3.5	0.6	17		60	0,8594		0,0,4297	no	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	58,58	0,1,6493	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	99/1120,99/781	79257271	1,12987	2197	4297	6494	SLC38A10	SO:0001583	missense	0			-	HGNC	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.295G>A	17.37:g.79257271C>T	ENSP00000363891:p.Ala99Thr	Somatic	0	48	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.A99T	ENST00000374759.3	37	c.295	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992657	0.54041	2.28E-4	0.0	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T;T	0.02472	4.28;4.28;4.28	4.76	3.48	0.39840	.	0.054931	0.64402	N	0.000001	T	0.07593	0.0191	M	0.62723	1.935	0.51233	D	0.999914	P;D	0.63046	0.956;0.992	P;P	0.53313	0.46;0.723	T	0.14309	-1.0477	10	0.45353	T	0.12	-13.9489	10.9216	0.47167	0.0:0.8827:0.0:0.1173	.	99;99	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	T	99;99;51	ENSP00000363891:A99T;ENSP00000288439:A99T;ENSP00000439115:A51T	ENSP00000288439:A99T	A	-	1	0	SLC38A10	76871866	0.999000	0.42202	0.598000	0.28837	0.043000	0.13939	4.332000	0.59279	0.767000	0.33267	0.561000	0.74099	GCC	-	pfam_AA_transpt_TM		0.602	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	protein_coding	OTTHUMT00000397747.1	C	NM_138570	-		79257271	-1	no_errors	ENST00000374759	ensembl	human	known	74_37	missense	SNP	0.998	T	T	79257271	C	T	79257271	3	4	16	1	0	0	0	0	1	0	0	0	14610	768	27	1	3394	1	SLC38A10	17	79257271	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	15723538	79257271	1937939	35	1125											
JAK3	3718	genome.wustl.edu	37	chr19	17951086	17951086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaagtcctgggggctgcGgcggagaacataggagccag	17	9	1	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr19:17951086G>A	ENST00000527670.1	-	8	1236	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	JAK3_ENST00000534444.1_Missense_Mutation_p.R403C|JAK3_ENST00000458235.1_Missense_Mutation_p.R403C|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	403	SH2; atypical.				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)			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)	TGGGGGCTGCGGCGGAGAACA	0.597		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0								ENSG00000105639						50	45	47					19																	17951086		2203	4300	6503	JAK3	SO:0001583	missense	0			-	HGNC	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.1207C>T	19.37:g.17951086G>A	ENSP00000432511:p.Arg403Cys	Somatic	0	19	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R403C	ENST00000527670.1	37	c.1207	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093374	0.20471	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.61392	0.11;0.11;0.11	4.5	4.5	0.54988	SH2 motif (2);	0.218384	0.41097	D	0.000959	T	0.35335	0.0928	N	0.17082	0.46	0.44302	D	0.997172	B;B;B	0.30211	0.273;0.006;0.108	B;B;B	0.20384	0.029;0.005;0.017	T	0.21724	-1.0237	10	0.31617	T	0.26	-29.7587	8.5391	0.33382	0.1067:0.0:0.8933:0.0	.	403;403;403	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	C	403	ENSP00000391676:R403C;ENSP00000432511:R403C;ENSP00000436421:R403C	ENSP00000413248:R403C	R	-	1	0	JAK3	17812086	0.995000	0.38212	1.000000	0.80357	0.856000	0.48823	2.211000	0.42825	2.073000	0.62155	0.557000	0.71058	CGC	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2		0.597	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	protein_coding	OTTHUMT00000385549.1	G	NM_000215	-		17951086	-1	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	SNP	0.960	A	A	17951086	G	A	17951086	3	1	16	1	0	0	0	0	1	0	0	0	7941	1116	39	1	2231	1	JAK3	19	17951086	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		17951086	41177897	36	1126											
KLHL26	55295	genome.wustl.edu	37	chr19	18775148	18775148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcctgcagggcctggCcaccctccgcgctcagggcc	12	20	1	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr19:18775148C>T	ENST00000300976.4	+	2	251	c.161C>T	c.(160-162)gCc>gTc	p.A54V	KLHL26_ENST00000599006.1_Missense_Mutation_p.A54V|KLHL26_ENST00000595182.1_Missense_Mutation_p.A54V|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	54										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGGGCCTGGCCACCCTCCGC	0.647																																																	0								ENSG00000167487						93	103	99					19																	18775148		2203	4300	6503	KLHL26	SO:0001583	missense	0			-	HGNC		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.161C>T	19.37:g.18775148C>T	ENSP00000300976:p.Ala54Val	Somatic	0	69	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8TAP0|Q9NUX3	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A54V	ENST00000300976.4	37	c.161	CCDS12384.1	19	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857962	0.71834	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.71222	-0.55	4.14	4.14	0.48551	BTB/POZ fold (2);	0.066539	0.64402	D	0.000008	T	0.55577	0.1929	N	0.10916	0.065	0.47584	D	0.999464	B	0.29805	0.257	B	0.33121	0.158	T	0.62253	-0.6893	10	0.66056	D	0.02	.	15.7475	0.77958	0.0:1.0:0.0:0.0	.	54	Q53HC5	KLH26_HUMAN	V	54	ENSP00000300976:A54V	ENSP00000300976:A54V	A	+	2	0	KLHL26	18636148	1.000000	0.71417	0.799000	0.32177	0.969000	0.65631	5.544000	0.67231	2.016000	0.59253	0.561000	0.74099	GCC	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.647	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	protein_coding	OTTHUMT00000465145.1	C	NM_018316	-		18775148	1	no_errors	ENST00000300976	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18775148	C	T	18775148	3	4	16	1	0	0	0	0	1	0	0	0	8383	739	26	2	167	2	KLHL26	19	18775148	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	824062	18775148	40353835	37	1127											
NCAN	1463	genome.wustl.edu	37	chr19	19338775	19338775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaggtgcaggacccctgGccctcagtgtacagcaaagg	14	11	1	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr19:19338775G>T	ENST00000252575.6	+	8	2445	c.2346G>T	c.(2344-2346)tgG>tgT	p.W782C	NCAN_ENST00000538881.1_Missense_Mutation_p.W233C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	782					axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGGACCCCTGGCCCTCAGTGT	0.602																																																	0								ENSG00000130287						49	54	52					19																	19338775		2203	4300	6503	NCAN	SO:0001583	missense	0			-	HGNC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2346G>T	19.37:g.19338775G>T	ENSP00000252575:p.Trp782Cys	Somatic	0	50	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q9UPK6	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.W782C	ENST00000252575.6	37	c.2346	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979937	0.18812	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.88124	-1.87;-2.34	2.64	1.56	0.23342	.	0.563746	0.13584	N	0.377105	T	0.81683	0.4874	L	0.29908	0.895	0.18873	N	0.999984	D;D	0.63046	0.992;0.983	P;P	0.49561	0.615;0.536	T	0.70666	-0.4809	10	0.38643	T	0.18	.	7.3813	0.26858	0.0:0.2722:0.7278:0.0	.	796;782	Q4LE67;O14594	.;NCAN_HUMAN	C	796;782;233	ENSP00000252575:W782C;ENSP00000442202:W233C	ENSP00000252575:W782C	W	+	3	0	NCAN	19199775	0.002000	0.14202	0.004000	0.12327	0.018000	0.09664	0.853000	0.27777	0.681000	0.31386	0.561000	0.74099	TGG	-	NULL		0.602	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	protein_coding	OTTHUMT00000460111.2	G	NM_004386	-		19338775	1	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	SNP	0.003	T	T	19338775	G	T	19338775	3	4	16	1	0	0	0	0	1	0	0	0	10206	1212	42	3	2372	3	NCAN	19	19338775	Missense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09	563627	19338775	39790208	38	1128											
KIAA0406	9675	genome.wustl.edu	37	chr20	36625225	36625225	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acttgaaggccagcgtgtgcGagtaaactggtccagccctg	13	11	0	1	rs150253333		TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr20:36625225G>T	ENST00000373448.2	-	7	3162	c.2924C>A	c.(2923-2925)tCg>tAg	p.S975*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.S975*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.S975*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	975					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.S975*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGCGTGTGCGAGTAAACTGG	0.602																																																	1	Substitution - Nonsense(1)	skin(1)						ENSG00000101407						101	105	104					20																	36625225		2203	4300	6503	TTI1	SO:0001587	stop_gained	0			-	HGNC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2924C>A	20.37:g.36625225G>T	ENSP00000362547:p.Ser975*	Somatic	0	54	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP							superfamily_ARM-type_fold,pirsf_UCP005250	p.S975*	ENST00000373448.2	37	c.2924	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	38	6.712543	0.97780	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.2	3.28	0.37604	.	0.215655	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-14.1488	6.2548	0.20867	0.0834:0.1173:0.6787:0.1205	.	.	.	.	X	975	.	ENSP00000362546:S975X	S	-	2	0	TTI1	36058639	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	1.696000	0.37773	0.796000	0.33947	-0.920000	0.02741	TCG	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.602	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	G	NM_014657	-		36625225	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	36625225	G	T	36625225	4	4	16	1	0	0	0	0	0	1	0	0	8175	1059	37	3	357	3	KIAA0406	20	36625225	Nonsense_Mutation	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		36625225	26400295	39	1129											
NTSR1	4923	genome.wustl.edu	37	chr20	61340995	61340995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgccgcggctactacTtcctgcgcgacgcctgcacc	11	19	0	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr20:61340995T>C	ENST00000370501.3	+	1	807	c.436T>C	c.(436-438)Ttc>Ctc	p.F146L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	146					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCTACTACTTCCTGCGCGA	0.672																																					GBM(37;400 780 6403 19663 35669)												0								ENSG00000101188						47	49	49					20																	61340995		2202	4298	6500	NTSR1	SO:0001583	missense	0			-	HGNC		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.436T>C	20.37:g.61340995T>C	ENSP00000359532:p.Phe146Leu	Somatic	0	53	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	Q9H4H1|Q9H4T5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt	p.F146L	ENST00000370501.3	37	c.436	CCDS13502.1	20	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796223	0.90453	.	.	ENSG00000101188	ENST00000370501	T	0.44482	0.92	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.42744	1.35	0.58432	D	0.999998	D	0.67145	0.996	D	0.67548	0.952	T	0.44406	-0.9330	10	0.20519	T	0.43	-45.2992	14.641	0.68726	0.0:0.0:0.0:1.0	.	146	P30989	NTR1_HUMAN	L	146	ENSP00000359532:F146L	ENSP00000359532:F146L	F	+	1	0	NTSR1	60811440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.136000	0.71703	1.946000	0.56461	0.459000	0.35465	TTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt		0.672	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	protein_coding	OTTHUMT00000080061.1	T		-		61340995	1	no_errors	ENST00000370501	ensembl	human	known	74_37	missense	SNP	1.000	C	C	61340995	T	C	61340995	3	2	16	1	0	0	0	0	1	0	0	0	10712	1609	56	5	438	5	NTSR1	20	61340995	Missense_Mutation	SNP	T	TCGA-3B-A9I1-01A-11D-A38Z-09	24715770	61340995	1684525	40	1130											
KRTAP10-9	386676	genome.wustl.edu	37	chr21	46047916	46047916	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgccgccctgtgtgCtcccgcccggcctgctacag	10	19	1	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr21:46047916C>A	ENST00000397911.3	+	1	877	c.828C>A	c.(826-828)tgC>tgA	p.C276*	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	276						keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCCCTGTGTGCTCCCGCCCGG	0.701																																																	0								ENSG00000221837						63	78	73					21																	46047916		2196	4291	6487	KRTAP10-9	SO:0001587	stop_gained	0			-	HGNC	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.828C>A	21.37:g.46047916C>A	ENSP00000381009:p.Cys276*	Somatic	0	107	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	50	47.37	A2RRG1|A6NIR9|Q70LJ1	Nonsense_Mutation	SNP							NULL	p.C276*	ENST00000397911.3	37	c.828	CCDS42961.1	21	.	.	.	.	.	.	.	.	.	.	c	10.15	1.270110	0.23221	.	.	ENSG00000221837	ENST00000397911	.	.	.	2.97	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.32240	N	0.572874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2898	0.31950	0.0:0.8691:0.0:0.1309	.	.	.	.	X	276	.	.	C	+	3	2	KRTAP10-9	44872344	0.511000	0.26179	0.014000	0.15608	0.003000	0.03518	0.738000	0.26158	0.528000	0.28580	-0.253000	0.11424	TGC	-	NULL		0.701	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-9	protein_coding	OTTHUMT00000128040.1	C		-		46047916	1	no_errors	ENST00000397911	ensembl	human	known	74_37	nonsense	SNP	0.081	A	A	46047916	C	A	46047916	4	1	16	1	0	0	0	0	0	1	0	0	8518	805	28	3	830	3	KRTAP10-9	21	46047916	Nonsense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		46047916	2081979	41	1131											
MEI1	150365	genome.wustl.edu	37	chr22	42154406	42154406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctgcagcatgggctGccccagataagcagcaggag	14	12	0	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chr22:42154406G>T	ENST00000401548.3	+	18	2029	c.1989G>T	c.(1987-1989)ctG>ctT	p.L663L	MEI1_ENST00000400107.1_Silent_p.L31L|MEI1_ENST00000540880.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Silent_p.L403L	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCATGGGCTGCCCCAGATAA	0.542																																																	0								ENSG00000167077						51	53	52					22																	42154406		1951	4146	6097	MEI1	SO:0001819	synonymous_variant	0			-	HGNC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1989G>T	22.37:g.42154406G>T		Somatic	0	16	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	8	70.37		Silent	SNP							superfamily_ARM-type_fold	p.L663	ENST00000401548.3	37	c.1989	CCDS46718.1	22																																																																																			-	superfamily_ARM-type_fold		0.542	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	protein_coding	OTTHUMT00000074937.3	G	NM_152513	-		42154406	1	no_errors	ENST00000401548	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42154406	G	T	42154406	2	4	16	1	0	0	0	0	0	0	0	1	9467	1306	46	3		3	MEI1	22	42154406	Silent	SNP	G	TCGA-3B-A9I1-01A-11D-A38Z-09		42154406	9150160	42	1132											
SSX7	280658	genome.wustl.edu	37	chrX	52681341	52681341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattatcaaaatcattccCctggaggtctgtggcccctg	9	12	4	0			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chrX:52681341C>T	ENST00000298181.5	-	4	399	c.241G>A	c.(241-243)Ggg>Agg	p.G81R		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	81	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					AAATCATTCCCCTGGAGGTCT	0.493																																																	0								ENSG00000187754						171	152	159					X																	52681341		2203	4300	6503	SSX7	SO:0001583	missense	0			-	HGNC	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.241G>A	X.37:g.52681341C>T	ENSP00000298181:p.Gly81Arg	Somatic	0	109	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	116	56	67.05		Missense_Mutation	SNP							pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G81R	ENST00000298181.5	37	c.241	CCDS14343.1	X	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890925	0.00527	.	.	ENSG00000187754	ENST00000298181	T	0.08282	3.11	0.725	-1.45	0.08828	Krueppel-associated box (1);Krueppel-associated box-related (1);	3.676760	0.00597	N	0.000372	T	0.06462	0.0166	L	0.31926	0.97	0.09310	N	1	B	0.21821	0.061	B	0.27170	0.077	T	0.32877	-0.9890	9	0.14656	T	0.56	.	.	.	.	.	81	Q7RTT5	SSX7_HUMAN	R	81	ENSP00000298181:G81R	ENSP00000298181:G81R	G	-	1	0	SSX7	52698066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.795000	0.04580	-1.963000	0.01013	-1.225000	0.01585	GGG	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.493	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	protein_coding	OTTHUMT00000056671.1	C	NM_173358	-		52681341	-1	no_errors	ENST00000298181	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52681341	C	T	52681341	3	4	16	1	0	0	0	0	1	0	0	0	15216	623	22	2	341	2	SSX7	23	52681341	Missense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09		52681341	102589219	43	1133											
ATRX	546	genome.wustl.edu	37	chrX	76938581	76938581	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaattttgatccacagtctCtgattgcttagattttggca	8	7	1	4			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chrX:76938581C>A	ENST00000373344.5	-	9	2381	c.2167G>T	c.(2167-2169)Gag>Tag	p.E723*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E685*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	723					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCACAGTCTCTGATTGCTTA	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						153	150	151					X																	76938581		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2167G>T	X.37:g.76938581C>A	ENSP00000362441:p.Glu723*	Somatic	0	26	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	21	61.11	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E723*	ENST00000373344.5	37	c.2167	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.067470	0.98040	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.74	5.74	0.90152	.	0.685030	0.13305	N	0.397945	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-0.7924	11.0229	0.47728	0.1424:0.7229:0.1348:0.0	.	.	.	.	X	723;685;650	.	ENSP00000362441:E723X	E	-	1	0	ATRX	76825237	0.535000	0.26370	0.395000	0.26283	0.675000	0.39556	1.080000	0.30779	2.406000	0.81754	0.513000	0.50165	GAG	-	NULL		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76938581	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.125	A	A	76938581	C	A	76938581	4	1	16	1	0	0	0	0	0	1	0	0	1208	922	32	3	5419	3	ATRX	23	76938581	Nonsense_Mutation	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	24257240	76938581	78331979	44	1134											
SATL1	340562	genome.wustl.edu	37	chrX	84363261	84363261	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggctcatgtctgtttggttCttacatgattggctagtgtc	11	7	3	1			TCGA-3B-A9I1-01A-11D-A38Z-09	TCGA-3B-A9I1-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3b4785-3d62-4dd2-8051-2ce017c9e248	4843c7f9-2185-4436-b5a9-7526d6aca0c9	g.chrX:84363261C>T	ENST00000395409.3	-	1	713	c.153G>A	c.(151-153)aaG>aaA	p.K51K	SATL1_ENST00000332921.5_Silent_p.K51K|SATL1_ENST00000509231.1_Silent_p.K238K			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	51	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGTTTGGTTCTTACATGATT	0.488																																																	0								ENSG00000184788						328	241	271					X																	84363261		2203	4300	6503	SATL1	SO:0001819	synonymous_variant	0			-	HGNC	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.153G>A	X.37:g.84363261C>T		Somatic	0	22	0		0.710015146588601				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	39	33.90	A0AVK7|E9PB72|Q5H8V9	Silent	SNP							superfamily_Acyl_CoA_acyltransferase	p.K238	ENST00000395409.3	37	c.714		X																																																																																			-	NULL		0.488	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	protein_coding		C	XM_291339	-		84363261	-1	no_errors	ENST00000509231	ensembl	human	known	74_37	silent	SNP	0.000	T	T	84363261	C	T	84363261	2	4	16	1	0	0	0	0	0	0	0	1	13863	912	32	2		2	SATL1	23	84363261	Silent	SNP	C	TCGA-3B-A9I1-01A-11D-A38Z-09	7424680	84363261	70907299	45	1135											
KIF1B	23095	genome.wustl.edu	37	chr1	10423402	10423402	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagacacaggtagtccaGgtaagctcttgtggattgag	13	7	2	2			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:10423402G>A	ENST00000377086.1	+	41	4568	c.4366G>A	c.(4366-4368)Ggt>Agt	p.G1456S	KIF1B_ENST00000377081.1_Splice_Site_p.G1456S|KIF1B_ENST00000263934.6_Splice_Site_p.G1410S			O60333	KIF1B_HUMAN	kinesin family member 1B	1456					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTAGTCCAGGTAAGCTCTT	0.403																																																	0								ENSG00000054523						180	174	176					1																	10423402		2203	4300	6503	KIF1B	SO:0001630	splice_region_variant	0			-	HGNC	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4366+1G>A	1.37:g.10423402G>A		Somatic	0	61	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	82	17.17	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G1410S	ENST00000377086.1	37	c.4228		1	.	.	.	.	.	.	.	.	.	.	G	36	5.728432	0.96856	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74209	-0.75;-0.82;-0.82	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.994;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.977;0.965;0.938;0.999;0.952;0.994	D	0.84920	0.0853	10	0.59425	D	0.04	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1442;1416;1456;1430;1456;1410	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	S	1456;1410;1456;1456	ENSP00000263934:G1410S;ENSP00000366290:G1456S;ENSP00000366284:G1456S	ENSP00000263934:G1410S	G	+	1	0	KIF1B	10345989	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.386000	0.97228	2.882000	0.98803	0.655000	0.94253	GGT	-	NULL		0.403	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	protein_coding	OTTHUMT00000005102.1	G		-	Missense_Mutation	10423402	1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10423402	G	A	10423402	5	1	17	1	0	0	0	0	0	0	1	0	8286	1014	35	2	5867	2	KIF1B	1	10423402	Splice_Site	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		10423402	238827219	1	1136											
FOXD2	2306	genome.wustl.edu	37	chr1	47904668	47904669	+	In_Frame_Ins	INS	-	-	CCGCAC													cgccggggccggccccgcatINSccgcacccgcacccgcacgc					rs113438724|rs3046924|rs71053113	byFrequency	TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:47904668_47904669insCCGCAC	ENST00000334793.5	+	1	2980_2981	c.861_862insCCGCAC	c.(862-864)ccg>CCGCACccg	p.288_288P>PHP		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	288	Ala-rich.|Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		cggccccgcatccgcacccgca	0.787														4830	0.964457	0.9107	0.9827	5008	,	,		7050	0.9881		0.992	False		,,,				2504	0.9714																0								ENSG00000186564			161,17		80,1,8						-2.5	0.2		dbSNP_102	1	364,38		182,0,19	no	coding	FOXD2	NM_004474.3		262,1,27	A1A1,A1R,RR		9.4527,9.5506,9.4828				525,55				FOXD2	SO:0001652	inframe_insertion	0				HGNC	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.874_879dupCCGCAC	1.37:g.47904669_47904674dupCCGCAC	ENSP00000335493:p.HisPro292dup	Somatic					0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5SVZ3	In_Frame_Ins	INS							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.291in_frame_insPH	ENST00000334793.5	37	c.861_862	CCDS30708.1	1																																																																																			-	NULL		0.787	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	protein_coding	OTTHUMT00000021831.1	-	NM_004474			47904669	1	no_errors	ENST00000334793	ensembl	human	known	74_37	in_frame_ins	INS	0.056:0.602	CCGCAC	CCGCAC	47904669	-	CCGCAC	47904668	7	5	17	1	0	1	1	0	0	0	0	0	5999	1432	50	0	863	0	FOXD2	1	47904668	In_Frame_Ins	INS	-	TCGA-3B-A9I3-01A-11D-A38Z-09	37481266	47904668	201345953	2	1137											
LHX8	431707	genome.wustl.edu	37	chr1	75608895	75608895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtctatcacttggcatGctttgcctgcttttcctgca	8	11	2	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:75608895G>A	ENST00000294638.5	+	6	1146	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	LHX8_ENST00000356261.3_Missense_Mutation_p.C151Y	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	161	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CACTTGGCATGCTTTGCCTGC	0.488																																																	0								ENSG00000162624						120	112	115					1																	75608895		2203	4299	6502	LHX8	SO:0001583	missense	0			-	HGNC	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.482G>A	1.37:g.75608895G>A	ENSP00000294638:p.Cys161Tyr	Somatic	0	17	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	E9PGE3	Missense_Mutation	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.C161Y	ENST00000294638.5	37	c.482	CCDS30756.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366347	0.82463	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.95412	-3.7;-3.7	5.3	5.3	0.74995	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.99783	4.775	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98920	1.0783	10	0.87932	D	0	.	19.3413	0.94342	0.0:0.0:1.0:0.0	.	161	Q68G74	LHX8_HUMAN	Y	161;151	ENSP00000294638:C161Y;ENSP00000348597:C151Y	ENSP00000294638:C161Y	C	+	2	0	LHX8	75381483	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	9.476000	0.97823	2.660000	0.90430	0.650000	0.86243	TGC	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.488	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	protein_coding	OTTHUMT00000026700.1	G	NM_001001933	-		75608895	1	no_errors	ENST00000294638	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75608895	G	A	75608895	3	1	17	1	0	0	0	0	1	0	0	0	8778	1319	46	2	500	2	LHX8	1	75608895	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	27704227	75608895	173641726	3	1138											
VANGL1	81839	genome.wustl.edu	37	chr1	116206547	116206547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctctttatctccatggCattcaaactcctcattctgc	7	13	5	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:116206547C>T	ENST00000355485.2	+	4	741	c.470C>T	c.(469-471)gCa>gTa	p.A157V	VANGL1_ENST00000369509.1_Missense_Mutation_p.A157V|VANGL1_ENST00000369510.4_Missense_Mutation_p.A155V|VANGL1_ENST00000310260.3_Missense_Mutation_p.A157V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	157					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATCTCCATGGCATTCAAACTC	0.512																																																	0								ENSG00000173218						116	118	117					1																	116206547		2203	4300	6503	VANGL1	SO:0001583	missense	0			-	HGNC	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.470C>T	1.37:g.116206547C>T	ENSP00000347672:p.Ala157Val	Somatic	0	94	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	95	18.10	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP							pfam_Strabismus,pirsf_Strabismus	p.A157V	ENST00000355485.2	37	c.470	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602908	0.87157	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.34	5.34	0.76211	.	0.055167	0.64402	D	0.000001	D	0.82747	0.5104	M	0.74467	2.265	0.80722	D	1	P;P	0.44380	0.801;0.834	B;B	0.44133	0.314;0.442	D	0.85338	0.1094	10	0.62326	D	0.03	0.0369	19.4118	0.94677	0.0:1.0:0.0:0.0	.	155;157	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	V	157;155;157;157	ENSP00000347672:A157V;ENSP00000358523:A155V;ENSP00000310800:A157V;ENSP00000358522:A157V	ENSP00000310800:A157V	A	+	2	0	VANGL1	116008070	1.000000	0.71417	0.080000	0.20451	0.812000	0.45895	7.487000	0.81328	2.662000	0.90505	0.650000	0.86243	GCA	-	pfam_Strabismus,pirsf_Strabismus		0.512	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	protein_coding	OTTHUMT00000033096.1	C		-		116206547	1	no_errors	ENST00000310260	ensembl	human	known	74_37	missense	SNP	0.987	T	T	116206547	C	T	116206547	3	4	17	1	0	0	0	0	1	0	0	0	17126	710	25	2	480	2	VANGL1	1	116206547	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	40597652	116206547	133044074	4	1139											
CTSK	1513	genome.wustl.edu	37	chr1	150772185	150772185	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtacatacaactctcttCctggaagaaacaagattgta	7	8	1	2			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:150772185C>T	ENST00000271651.3	-	6	729	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	207					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAACTCTCTTCCTGGAAGAAA	0.458																																																	0								ENSG00000143387						117	111	113					1																	150772185		2203	4300	6503	CTSK	SO:0001630	splice_region_variant	0			-	HGNC	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.619-1G>A	1.37:g.150772185C>T		Somatic	0	34	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	Q6FHS6	Missense_Mutation	SNP							pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E207K	ENST00000271651.3	37	c.619	CCDS969.1	1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926480	0.73327	.	.	ENSG00000143387	ENST00000271651	D	0.97480	-4.4	5.78	5.78	0.91487	Peptidase C1A, papain C-terminal (2);	0.139981	0.64402	D	0.000007	D	0.90861	0.7129	N	0.12746	0.255	0.54753	D	0.999987	B	0.15719	0.014	B	0.19391	0.025	D	0.86910	0.2060	10	0.72032	D	0.01	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	207	P43235	CATK_HUMAN	K	207	ENSP00000271651:E207K	ENSP00000271651:E207K	E	-	1	0	CTSK	149038809	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	6.079000	0.71291	2.744000	0.94065	0.563000	0.77884	GAA	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.458	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSK	protein_coding	OTTHUMT00000084732.1	C	NM_000396	-	Missense_Mutation	150772185	-1	no_errors	ENST00000271651	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150772185	C	T	150772185	5	4	17	1	0	0	0	0	0	0	1	0	4039	869	30	2	382	2	CTSK	1	150772185	Splice_Site	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	34565638	150772185	98478436	5	1140											
S100A7	6278	genome.wustl.edu	37	chr1	153430303	153430303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggctgcccccggaacaGggcgctgctccatggctctg	13	16	1	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:153430303G>A	ENST00000368723.3	-	3	395	c.285C>T	c.(283-285)ccC>ccT	p.P95P	S100A7_ENST00000368722.1_Silent_p.P95P	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	95					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCGGAACAGGGCGCTGCTC	0.517																																																	0								ENSG00000143556						65	64	64					1																	153430303		2203	4300	6503	S100A7	SO:0001819	synonymous_variant	0			-	HGNC	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.285C>T	1.37:g.153430303G>A		Somatic	0	43	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.71	Q5SY67|Q6FGE3|Q9H1E2	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.P95	ENST00000368723.3	37	c.285	CCDS1039.1	1																																																																																			-	NULL		0.517	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A7	protein_coding	OTTHUMT00000036789.1	G	NM_002963	-		153430303	-1	no_errors	ENST00000368722	ensembl	human	known	74_37	silent	SNP	0.000	A	A	153430303	G	A	153430303	2	1	17	1	0	0	0	0	0	0	0	1	13791	987	35	2		2	S100A7	1	153430303	Silent	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	2658118	153430303	95820318	6	1141											
DNM3	26052	genome.wustl.edu	37	chr1	172356396	172356396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcttcgaatgtatcaaGcactgaaagaagcccttggg	11	8	1	3			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:172356396G>A	ENST00000355305.5	+	19	2357	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DNM3_ENST00000367731.1_Missense_Mutation_p.A724T|DNM3_ENST00000358155.4_Missense_Mutation_p.A728T			Q9UQ16	DYN3_HUMAN	dynamin 3	734	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATGTATCAAGCACTGAAAGA	0.542																																																	0								ENSG00000197959						64	68	66					1																	172356396		2025	4173	6198	DNM3	SO:0001583	missense	0			-	HGNC	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2200G>A	1.37:g.172356396G>A	ENSP00000347457:p.Ala734Thr	Somatic	0	44	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.A728T	ENST00000355305.5	37	c.2182		1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166978	0.57476	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.43	5.43	0.79202	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.119442	0.56097	D	0.000031	T	0.50222	0.1603	M	0.69523	2.12	0.80722	D	1	P;P;P	0.51537	0.946;0.843;0.659	P;P;B	0.50754	0.649;0.596;0.359	T	0.46992	-0.9151	10	0.30078	T	0.28	.	13.1689	0.59587	0.0:0.0:0.8403:0.1596	.	734;724;728	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	T	738;728;734;724;97	ENSP00000350876:A728T;ENSP00000347457:A734T;ENSP00000356705:A724T;ENSP00000429165:A97T	ENSP00000347457:A734T	A	+	1	0	DNM3	170623019	1.000000	0.71417	0.936000	0.37596	0.551000	0.35334	6.641000	0.74324	2.717000	0.92951	0.585000	0.79938	GCA	-	pfam_GED,smart_GED		0.542	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	protein_coding	OTTHUMT00000084531.1	G	NM_015569	-		172356396	1	no_errors	ENST00000358155	ensembl	human	known	74_37	missense	SNP	0.996	A	A	172356396	G	A	172356396	3	1	17	1	0	0	0	0	1	0	0	0	4675	971	34	2	2256	2	DNM3	1	172356396	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	18926093	172356396	76894225	7	1142											
CACNA1S	779	genome.wustl.edu	37	chr1	201044742	201044742	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcttcccctgtcagtAcctgtatggagggaggatag	12	10	2	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr1:201044742A>G	ENST00000362061.3	-	13	2055	c.1829T>C	c.(1828-1830)gTa>gCa	p.V610A	CACNA1S_ENST00000367338.3_Splice_Site_p.V610A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	610					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)	CCCTGTCAGTACCTGTATGGA	0.542																																																	0								ENSG00000081248						159	140	146					1																	201044742		2203	4300	6503	CACNA1S	SO:0001630	splice_region_variant	0			-	HGNC	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.1828-1T>C	1.37:g.201044742A>G		Somatic	0	28	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	66	12.00	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.V610A	ENST00000362061.3	37	c.1829	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.637258	0.67130	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97665	-4.48;-4.48	4.45	4.45	0.53987	Ion transport (1);	0.052902	0.64402	D	0.000001	D	0.96935	0.8999	M	0.67517	2.055	0.40525	D	0.980876	P	0.34977	0.478	P	0.45377	0.478	D	0.98115	1.0422	10	0.87932	D	0	.	14.0254	0.64582	1.0:0.0:0.0:0.0	.	610	Q13698	CAC1S_HUMAN	A	610	ENSP00000355192:V610A;ENSP00000356307:V610A	ENSP00000355192:V610A	V	-	2	0	CACNA1S	199311365	1.000000	0.71417	0.999000	0.59377	0.307000	0.27823	9.238000	0.95380	1.781000	0.52344	0.523000	0.50628	GTA	-	pfam_Ion_trans_dom,prints_VDCCAlpha1		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	A	NM_000069	-	Missense_Mutation	201044742	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	SNP	1.000	G	G	201044742	A	G	201044742	5	3	17	1	0	0	0	0	0	0	1	0	2549	405	14	5	3920	5	CACNA1S	1	201044742	Splice_Site	SNP	A	TCGA-3B-A9I3-01A-11D-A38Z-09	28688346	201044742	48205879	8	1143											
EHBP1	23301	genome.wustl.edu	37	chr2	63220800	63220800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaatatattgagaatagaCcaggtagaacactttttaaa	7	6	0	3			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr2:63220800C>G	ENST00000263991.5	+	19	3564	c.3082C>G	c.(3082-3084)Cca>Gca	p.P1028A	EHBP1_ENST00000354487.3_Missense_Mutation_p.P993A|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.P957A|EHBP1_ENST00000431489.1_Missense_Mutation_p.P957A|EHBP1_ENST00000405289.1_Missense_Mutation_p.P993A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1028						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAATAGACCAGGTAGAAC	0.264																																																	0								ENSG00000115504						51	50	50					2																	63220800		2203	4298	6501	EHBP1	SO:0001583	missense	0			-	HGNC	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3082C>G	2.37:g.63220800C>G	ENSP00000263991:p.Pro1028Ala	Somatic	0	14	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P1028A	ENST00000263991.5	37	c.3082	CCDS1872.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.857258|2.857258	0.51376|0.51376	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000422032	T;T;T;T;T|.	0.75050|.	-0.81;-0.81;-0.88;-0.9;-0.9|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70474|0.70474	0.3228|0.3228	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.997;0.997|.	T|T	0.64437|0.64437	-0.6408|-0.6408	10|5	0.07990|.	T|.	0.79|.	.|.	20.3172|20.3172	0.98658|0.98658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	993;957;1028|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	A|S	957;957;1028;993;993|187	ENSP00000384143:P957A;ENSP00000403783:P957A;ENSP00000263991:P1028A;ENSP00000346482:P993A;ENSP00000385524:P993A|.	ENSP00000263991:P1028A|.	P|T	+|+	1|2	0|0	EHBP1|EHBP1	63074304|63074304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.709000|7.709000	0.84645|0.84645	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	CCA|ACC	-	NULL		0.264	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	protein_coding	OTTHUMT00000251616.1	C	NM_015252	-		63220800	1	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	SNP	1.000	G	G	63220800	C	G	63220800	3	3	17	1	0	0	0	0	1	0	0	0	4977	507	18	4	3152	4	EHBP1	2	63220800	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		63220800	179978573	9	1144											
MRPS5	64969	genome.wustl.edu	37	chr2	95753147	95753147	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccacacagagcgcttcatTccctgtgcagtcttcacatc	7	15	3	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr2:95753147T>A	ENST00000272418.2	-	12	1456	c.1248A>T	c.(1246-1248)ggA>ggT	p.G416G		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	416					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGCGCTTCATTCCCTGTGCAG	0.572																																																	0								ENSG00000144029						103	97	99					2																	95753147		2203	4300	6503	MRPS5	SO:0001819	synonymous_variant	0			-	HGNC	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1248A>T	2.37:g.95753147T>A		Somatic	0	42	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP							pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.G416	ENST00000272418.2	37	c.1248	CCDS2010.1	2																																																																																			-	NULL		0.572	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	protein_coding	OTTHUMT00000252772.1	T	NM_031902	-		95753147	-1	no_errors	ENST00000272418	ensembl	human	known	74_37	silent	SNP	0.009	A	A	95753147	T	A	95753147	2	1	17	1	0	0	0	0	0	0	0	1	9848	1770	62	5		5	MRPS5	2	95753147	Silent	SNP	T	TCGA-3B-A9I3-01A-11D-A38Z-09	32532347	95753147	147446226	10	1145											
LRP1B	53353	genome.wustl.edu	37	chr2	141641542	141641542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcgactgtcaggcctTctggagtagccaggccatgc	12	13	2	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr2:141641542T>C	ENST00000389484.3	-	25	4984	c.4013A>G	c.(4012-4014)gAa>gGa	p.E1338G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1338					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)		TGTCAGGCCTTCTGGAGTAGC	0.473										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						136	130	132					2																	141641542		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.4013A>G	2.37:g.141641542T>C	ENSP00000374135:p.Glu1338Gly	Somatic	0	18	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E1338G	ENST00000389484.3	37	c.4013	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254309	0.80135	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96459	-2.79;-4.02	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.83692	2.655	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.964;0.994	D	0.97940	1.0325	10	0.35671	T	0.21	.	16.1381	0.81502	0.0:0.0:0.0:1.0	.	521;1338	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	G	1338;1276;483	ENSP00000374135:E1338G;ENSP00000413239:E483G	ENSP00000374135:E1338G	E	-	2	0	LRP1B	141358012	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.926000	0.87569	2.258000	0.74832	0.533000	0.62120	GAA	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.473	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	T	NM_018557	-		141641542	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141641542	T	C	141641542	3	2	17	1	0	0	0	0	1	0	0	0	8957	1783	62	5	10054	5	LRP1B	2	141641542	Missense_Mutation	SNP	T	TCGA-3B-A9I3-01A-11D-A38Z-09	45888395	141641542	101557831	11	1146											
TTN	7273	genome.wustl.edu	37	chr2	179569022	179569022	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttggggtttaaggattctGccatttctgaaccattcaga	9	9	3	2			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr2:179569022G>T	ENST00000591111.1	-	104	29348	c.29124C>A	c.(29122-29124)ggC>ggA	p.G9708G	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.G8781G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.G10025G|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13786	Ig-like 78.				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)			TAAGGATTCTGCCATTTCTGA	0.423																																																	0								ENSG00000155657						198	186	190					2																	179569022		1889	4117	6006	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.29124C>A	2.37:g.179569022G>T		Somatic	0	16	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	55	12.70	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G8781	ENST00000591111.1	37	c.26343		2																																																																																			-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179569022	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	T	T	179569022	G	T	179569022	2	4	17	1	0	0	0	0	0	0	0	1	16742	1306	46	3		3	TTN	2	179569022	Silent	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	37927480	179569022	63630351	12	1147											
C2orf67	151050	genome.wustl.edu	37	chr2	210892036	210892036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcttctttgcctaaaTtatattcatccaaaggctga	4	10	3	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr2:210892036T>C	ENST00000281772.9	-	12	2698	c.2435A>G	c.(2434-2436)aAt>aGt	p.N812S	KANSL1L_ENST00000418791.1_Missense_Mutation_p.N770S|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	812						histone acetyltransferase complex (GO:0000123)											TTTGCCTAAATTATATTCATC	0.323																																																	0								ENSG00000144445						83	82	82					2																	210892036		2203	4298	6501	KANSL1L	SO:0001583	missense	0			-	HGNC	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.2435A>G	2.37:g.210892036T>C	ENSP00000281772:p.Asn812Ser	Somatic	0	48	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	85	13.27	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP							NULL	p.N812S	ENST00000281772.9	37	c.2435	CCDS33370.1	2	.	.	.	.	.	.	.	.	.	.	T	2.663	-0.279282	0.05642	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	T;T	0.39997	1.05;1.05	5.97	2.1	0.27182	.	0.486350	0.18781	N	0.131328	T	0.32823	0.0842	L	0.40543	1.245	0.09310	N	1	B;B	0.23249	0.082;0.082	B;B	0.24394	0.053;0.053	T	0.17806	-1.0357	10	0.25751	T	0.34	.	12.0291	0.53388	0.0:0.0:0.4232:0.5768	.	770;812	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	S	812;770	ENSP00000281772:N812S;ENSP00000405724:N770S	ENSP00000281772:N812S	N	-	2	0	C2orf67	210600281	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.101000	0.15251	0.111000	0.17947	0.528000	0.53228	AAT	-	NULL		0.323	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	protein_coding	OTTHUMT00000336633.3	T	NM_152519	-		210892036	-1	no_errors	ENST00000281772	ensembl	human	known	74_37	missense	SNP	0.002	C	C	210892036	T	C	210892036	3	2	17	1	0	0	0	0	1	0	0	0	2188	1493	52	5	544	5	C2orf67	2	210892036	Missense_Mutation	SNP	T	TCGA-3B-A9I3-01A-11D-A38Z-09	31323014	210892036	32307337	13	1148											
IQCF1	132141	genome.wustl.edu	37	chr3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctggcaatagcgtctgCggatgcgccacatgcgggcc	14	14	1	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATAGCGTCTGCGGATGCGCCA	0.607																																																	0								ENSG00000173389						93	85	88					3																	51929102		2203	4300	6503	IQCF1	SO:0001583	missense	0			-	HGNC	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.422G>A	3.37:g.51929102C>T	ENSP00000307958:p.Arg141His	Somatic	0	51	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q8N711	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R141H	ENST00000310914.5	37	c.422	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174636	0.21704	.	.	ENSG00000173389	ENST00000310914	T	0.65549	-0.16	4.75	2.96	0.34315	.	0.221444	0.32488	N	0.006039	T	0.47893	0.1470	L	0.39147	1.195	0.09310	N	1	B	0.33379	0.41	B	0.30646	0.118	T	0.40887	-0.9539	10	0.49607	T	0.09	-19.5588	7.7834	0.29078	0.0:0.8196:0.0:0.1804	.	141	Q8N6M8	IQCF1_HUMAN	H	141	ENSP00000307958:R141H	ENSP00000307958:R141H	R	-	2	0	IQCF1	51904142	0.121000	0.22262	0.002000	0.10522	0.429000	0.31625	1.466000	0.35310	0.727000	0.32360	0.549000	0.68633	CGC	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.607	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	protein_coding	OTTHUMT00000346568.1	C	NM_152397	-		51929102	-1	no_errors	ENST00000310914	ensembl	human	known	74_37	missense	SNP	0.003	T	T	51929102	C	T	51929102	3	4	17	1	0	0	0	0	1	0	0	0	7809	768	27	1	199	1	IQCF1	3	51929102	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		51929102	146093328	14	1149											
SHROOM3	57619	genome.wustl.edu	37	chr4	77357347	77357347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaagggtggcctggagCacggagaaccattaatcatc	11	10	2	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr4:77357347C>T	ENST00000296043.6	+	1	1095	c.142C>T	c.(142-144)Cac>Tac	p.H48Y		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	48	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCCTGGAGCACGGAGAACC	0.408																																																	0								ENSG00000138771						195	195	195					4																	77357347		2203	4300	6503	SHROOM3	SO:0001583	missense	0			-	HGNC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.142C>T	4.37:g.77357347C>T	ENSP00000296043:p.His48Tyr	Somatic	0	32	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	80	12.90	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H48Y	ENST00000296043.6	37	c.142	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624887	0.46840	.	.	ENSG00000138771	ENST00000296043	T	0.27402	1.67	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.669254	0.13401	N	0.390609	T	0.47210	0.1433	L	0.46947	1.48	0.26340	N	0.977379	D	0.69078	0.997	D	0.64776	0.929	T	0.30416	-0.9979	10	0.45353	T	0.12	-5.8736	14.0181	0.64536	0.1511:0.8489:0.0:0.0	.	48	Q8TF72	SHRM3_HUMAN	Y	48	ENSP00000296043:H48Y	ENSP00000296043:H48Y	H	+	1	0	SHROOM3	77576371	0.995000	0.38212	0.976000	0.42696	0.821000	0.46438	2.716000	0.47219	2.937000	0.99478	0.650000	0.86243	CAC	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.408	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	C	NM_020859	-		77357347	1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	SNP	0.982	T	T	77357347	C	T	77357347	3	4	17	1	0	0	0	0	1	0	0	0	14303	710	25	2	144	2	SHROOM3	4	77357347	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		77357347	113796929	15	1150											
FAT1	2195	genome.wustl.edu	37	chr4	187630313	187630313	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcatgccacggtccgcagcGaggatttccatctcatagag	10	12	2	1	rs200782651		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr4:187630313G>T	ENST00000441802.2	-	2	878	c.669C>A	c.(667-669)ctC>ctA	p.L223L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	223	Cadherin 2. {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						GGTCCGCAGCGAGGATTTCCA	0.493										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						105	106	106					4																	187630313		2153	4273	6426	FAT1	SO:0001819	synonymous_variant	0			-	HGNC	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.669C>A	4.37:g.187630313G>T		Somatic	0	11	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83		Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L223	ENST00000441802.2	37	c.669	CCDS47177.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187630313	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	silent	SNP	0.045	T	T	187630313	G	T	187630313	2	4	17	1	0	0	0	0	0	0	0	1	5691	1045	37	3		3	FAT1	4	187630313	Silent	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	110272966	187630313	3523963	16	1151											
CCDC127	133957	genome.wustl.edu	37	chr5	216901	216901	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataattccacctgcttccatCaccaccatccgccctggaat	4	17	1	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr5:216901C>T	ENST00000296824.3	-	2	196	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CTD-2083E4.4_ENST00000565521.1_RNA|SDHA_ENST00000264932.6_5'Flank|SDHA_ENST00000510361.1_5'Flank|SDHA_ENST00000504309.1_5'Flank	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	22										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CTGCTTCCATCACCACCATCC	0.423																																																	0								ENSG00000164366						27	24	25					5																	216901		2200	4274	6474	CCDC127	SO:0001583	missense	0			-	HGNC	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.64G>A	5.37:g.216901C>T	ENSP00000296824:p.Asp22Asn	Somatic	0	107	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	82	18.00		Missense_Mutation	SNP							NULL	p.D22N	ENST00000296824.3	37	c.64	CCDS3852.1	5	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928533	0.73327	.	.	ENSG00000164366	ENST00000296824;ENST00000441693	T;T	0.47869	0.83;0.83	5.48	5.48	0.80851	.	0.092974	0.64402	D	0.000001	T	0.61311	0.2337	L	0.44542	1.39	0.58432	D	0.999997	D	0.76494	0.999	D	0.68943	0.961	T	0.60120	-0.7325	10	0.52906	T	0.07	-41.1068	17.2004	0.86904	0.0:1.0:0.0:0.0	.	22	Q96BQ5	CC127_HUMAN	N	22	ENSP00000296824:D22N;ENSP00000411206:D22N	ENSP00000296824:D22N	D	-	1	0	CCDC127	269901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.736000	0.93811	0.650000	0.86243	GAT	-	NULL		0.423	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC127	protein_coding	OTTHUMT00000365459.2	C	NM_145265	-		216901	-1	no_errors	ENST00000296824	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216901	C	T	216901	3	4	17	1	0	0	0	0	1	0	0	0	2765	826	29	2	726	2	CCDC127	5	216901	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		216901	180698359	17	1152											
PPIP5K2	23262	genome.wustl.edu	37	chr5	102486984	102486984	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggctttgatttgttaCgggccaatggacagtcctat	11	7	0	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr5:102486984C>A	ENST00000358359.3	+	9	1443	c.934C>A	c.(934-936)Cgg>Agg	p.R312R	PPIP5K2_ENST00000414217.1_Silent_p.R312R|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Silent_p.R312R	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	312					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGATTTGTTACGGGCCAATGG	0.318																																																	0								ENSG00000145725						95	98	97					5																	102486984		2202	4300	6502	PPIP5K2	SO:0001819	synonymous_variant	0			-	HGNC	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.934C>A	5.37:g.102486984C>A		Somatic	0	125	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	280	20.00	A1NI53|A6NGS8|Q8TB50	Silent	SNP							pfam_His_Pase_superF_clade-2	p.R312	ENST00000358359.3	37	c.934		5																																																																																			-	NULL		0.318	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	protein_coding	OTTHUMT00000370487.1	C	NM_015216	-		102486984	1	no_errors	ENST00000358359	ensembl	human	known	74_37	silent	SNP	1.000	A	A	102486984	C	A	102486984	2	1	17	1	0	0	0	0	0	0	0	1	12338	527	19	3		3	PPIP5K2	5	102486984	Silent	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	102270083	102486984	78428276	18	1153											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214396	140214396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaggaatctgttcatcgCggaatccaggccgcttgact	10	11	2	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr5:140214396C>T	ENST00000525929.1	+	1	428	c.428C>T	c.(427-429)gCg>gTg	p.A143V	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A143V|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	143	Cadherin 2. {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.A143V(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCATCGCGGAATCCAGG	0.567																																					NSCLC(160;258 2013 5070 22440 28951)												2	Substitution - Missense(2)	large_intestine(2)						ENSG00000204963						72	68	69					5																	140214396		2203	4292	6495	PCDHA7	SO:0001583	missense	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.428C>T	5.37:g.140214396C>T	ENSP00000436426:p.Ala143Val	Somatic	0	162	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	92	17.12	O75282	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A143V	ENST00000525929.1	37	c.428	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434793	0.12045	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.52983	0.64;0.64	4.17	1.88	0.25563	Cadherin (3);Cadherin-like (1);	0.708972	0.10662	U	0.648542	T	0.57286	0.2043	M	0.62209	1.925	0.09310	N	1	P;P	0.48016	0.904;0.869	B;P	0.58820	0.361;0.846	T	0.43163	-0.9408	10	0.27785	T	0.31	.	7.9008	0.29734	0.2103:0.6976:0.0:0.0921	.	143;143	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	143	ENSP00000436426:A143V;ENSP00000367365:A143V	ENSP00000367365:A143V	A	+	2	0	PCDHA7	140194580	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.060000	0.11712	0.830000	0.34757	0.455000	0.32223	GCG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.567	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	C	NM_018910	-		140214396	1	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	SNP	0.002	T	T	140214396	C	T	140214396	3	4	17	1	0	0	0	0	1	0	0	0	11531	768	27	1	430	1	PCDHA7	5	140214396	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	37727412	140214396	40700864	19	1154											
TNXB	7148	genome.wustl.edu	37	chr6	32014049	32014049	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctccaggtcctctacGgtgactgtgcgctggtctgc	13	14	2	1	rs370330613		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr6:32014049G>T	ENST00000375244.3	-	31	10710	c.10509C>A	c.(10507-10509)acC>acA	p.T3503T	TNXB_ENST00000375247.2_Silent_p.T3501T|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3548	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCCTCTACGGTGACTGTGC	0.642																																																	0								ENSG00000168477						36	42	40					6																	32014049		1321	2584	3905	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10509C>A	6.37:g.32014049G>T		Somatic	0	121	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	44	46.34	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.T3501	ENST00000375244.3	37	c.10503		6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32014049	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	0.000	T	T	32014049	G	T	32014049	2	4	17	1	0	0	0	0	0	0	0	1	16353	1103	39	3		3	TNXB	6	32014049	Silent	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		32014049	139101018	20	1155											
NPVF	64111	genome.wustl.edu	37	chr7	25267967	25267967	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgaagattggagatcActaattcatctgcacaaaaa	8	7	3	3			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr7:25267967A>C	ENST00000222674.2	-	1	138	c.92T>G	c.(91-93)gTg>gGg	p.V31G		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	31					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATTGGAGATCACTAATTCATC	0.269																																																	0								ENSG00000105954						65	71	69					7																	25267967		2200	4294	6494	NPVF	SO:0001583	missense	0			-	HGNC	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.92T>G	7.37:g.25267967A>C	ENSP00000222674:p.Val31Gly	Somatic	0	26	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	135	26.88	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP							NULL	p.V31G	ENST00000222674.2	37	c.92	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	A	4.916	0.170122	0.09339	.	.	ENSG00000105954	ENST00000222674	T	0.27402	1.67	5.37	-1.62	0.08372	.	0.875003	0.10029	N	0.725020	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.26744	-1.0094	10	0.28530	T	0.3	4.2326	6.0141	0.19592	0.4303:0.4191:0.1507:0.0	.	31	Q9HCQ7	RFRP_HUMAN	G	31	ENSP00000222674:V31G	ENSP00000222674:V31G	V	-	2	0	NPVF	25234492	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	0.383000	0.20651	-0.546000	0.06216	0.528000	0.53228	GTG	-	NULL		0.269	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	protein_coding	OTTHUMT00000250315.1	A	NM_022150	-		25267967	-1	no_errors	ENST00000222674	ensembl	human	known	74_37	missense	SNP	0.023	C	C	25267967	A	C	25267967	3	2	17	1	0	0	0	0	1	0	0	0	10607	159	6	5	510	5	NPVF	7	25267967	Missense_Mutation	SNP	A	TCGA-3B-A9I3-01A-11D-A38Z-09		25267967	133870696	21	1156											
WBSCR17	64409	genome.wustl.edu	37	chr7	71175901	71175901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcagcctgtacaagcgctgGaacttcatccaggtgagtgc	12	11	1	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr7:71175901G>T	ENST00000333538.5	+	10	2290	c.1656G>T	c.(1654-1656)tgG>tgT	p.W552C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	552	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)			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)				ACAAGCGCTGGAACTTCATCC	0.612																																																	0								ENSG00000185274						45	41	42					7																	71175901		2203	4300	6503	WBSCR17	SO:0001583	missense	0			-	HGNC	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.1656G>T	7.37:g.71175901G>T	ENSP00000329654:p.Trp552Cys	Somatic	0	40	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q8NFV9|Q9NTA8	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W552C	ENST00000333538.5	37	c.1656	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550657	0.65311	.	.	ENSG00000185274	ENST00000333538	T	0.75260	-0.92	5.28	5.28	0.74379	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.89414	3.03	0.80722	D	1	P	0.41848	0.763	P	0.48571	0.582	D	0.87209	0.2246	10	0.87932	D	0	.	17.6589	0.88185	0.0:0.0:1.0:0.0	.	552	Q6IS24	GLTL3_HUMAN	C	552	ENSP00000329654:W552C	ENSP00000329654:W552C	W	+	3	0	WBSCR17	70813837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.309000	0.78937	2.746000	0.94184	0.655000	0.94253	TGG	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.612	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	G	NM_022479	-		71175901	1	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71175901	G	T	71175901	3	4	17	1	0	0	0	0	1	0	0	0	17271	1183	41	3	1694	3	WBSCR17	7	71175901	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	45907934	71175901	87962762	22	1157											
FAM110B	90362	genome.wustl.edu	37	chr8	59058842	59058842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagccggtcagccccgCgggcaccttcacctctgctg	13	16	3	1	rs140524173	byFrequency	TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr8:59058842C>T	ENST00000361488.3	+	5	933	c.53C>T	c.(52-54)gCg>gTg	p.A18V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	18						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCAGCCCCGCGGGCACCTTC	0.667																																																	0								ENSG00000169122	C	VAL/ALA	0,4406		0,0,2203	32	32	32		53	5	1	8	dbSNP_134	32	4,8596	3.0+/-9.4	0,4,4296	yes	missense	FAM110B	NM_147189.2	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	18/371	59058842	4,13002	2203	4300	6503	FAM110B	SO:0001583	missense	0			-	HGNC	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.53C>T	8.37:g.59058842C>T	ENSP00000355204:p.Ala18Val	Somatic	0	161	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	67	22.09	Q5BM08|Q9Y4K2	Missense_Mutation	SNP							NULL	p.A18V	ENST00000361488.3	37	c.53	CCDS6170.1	8	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195907	0.58126	0.0	4.65E-4	ENSG00000169122	ENST00000361488	T	0.57752	0.38	5.0	5.0	0.66597	.	0.059016	0.64402	D	0.000003	T	0.45296	0.1335	L	0.44542	1.39	0.58432	D	0.999997	P	0.40970	0.734	B	0.35510	0.204	T	0.42616	-0.9441	9	.	.	.	0.428	18.2903	0.90127	0.0:1.0:0.0:0.0	.	18	Q8TC76	F110B_HUMAN	V	18	ENSP00000355204:A18V	.	A	+	2	0	FAM110B	59221396	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	3.761000	0.55242	2.312000	0.78011	0.313000	0.20887	GCG	-	NULL		0.667	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	protein_coding	OTTHUMT00000378095.2	C	NM_147189	rs140524173		59058842	1	no_errors	ENST00000361488	ensembl	human	known	74_37	missense	SNP	0.999	T	T	59058842	C	T	59058842	3	4	17	1	0	0	0	0	1	0	0	0	5399	768	27	1	55	1	FAM110B	8	59058842	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		59058842	87305180	23	1158											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75929118	75929118	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatttttttctttgtagccCaaattgtttcttgtgaagta	7	5	2	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr8:75929118C>G	ENST00000262207.4	+	8	1339	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.Q105E|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.Q103E	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	291	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)			CTTTGTAGCCCAAATTGTTTC	0.234																																																	0								ENSG00000121005						23	24	23					8																	75929118		2131	4239	6370	CRISPLD1	SO:0001583	missense	0			-	HGNC	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.871C>G	8.37:g.75929118C>G	ENSP00000262207:p.Gln291Glu	Somatic	0	16	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	79	17.71	B2RA60|B7Z929	Missense_Mutation	SNP							pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.Q291E	ENST00000262207.4	37	c.871	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930786	0.52866	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89270	-2.49;-2.49;-2.49	4.97	4.97	0.65823	LCCL (4);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.87328	2.875	0.80722	D	1	D;D	0.64830	0.969;0.994	D;D	0.72338	0.93;0.977	D	0.94901	0.8056	10	0.51188	T	0.08	.	18.7915	0.91975	0.0:1.0:0.0:0.0	.	105;291	B7Z929;Q9H336	.;CRLD1_HUMAN	E	291;103;105	ENSP00000262207:Q291E;ENSP00000430105:Q103E;ENSP00000429746:Q105E	ENSP00000262207:Q291E	Q	+	1	0	CRISPLD1	76091673	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	4.335000	0.59298	2.752000	0.94435	0.650000	0.86243	CAA	-	superfamily_LCCL,smart_LCCL,pfscan_LCCL		0.234	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	C	NM_031461	-		75929118	1	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75929118	C	G	75929118	3	3	17	1	0	0	0	0	1	0	0	0	3884	595	21	4	897	4	CRISPLD1	8	75929118	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	16870276	75929118	70434904	24	1159											
ZC3H3	23144	genome.wustl.edu	37	chr8	144621417	144621417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtggtaagtgggtggCtgccacccagaagctgctgg	15	11	0	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr8:144621417C>T	ENST00000262577.5	-	2	151	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RP11-661A12.5_ENST00000530600.1_RNA|7SK_ENST00000517300.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	40					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGTGGGTGGCTGCCACCCAG	0.602																																																	0								ENSG00000014164						40	39	39					8																	144621417		2202	4292	6494	ZC3H3	SO:0001819	synonymous_variant	0			-	HGNC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.120G>A	8.37:g.144621417C>T		Somatic	0	80	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.57	Q14163|Q8N4E2|Q9BUS4	Silent	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.Q40	ENST00000262577.5	37	c.120	CCDS6402.1	8																																																																																			-	NULL		0.602	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	protein_coding	OTTHUMT00000382011.2	C	NM_015117	-		144621417	-1	no_errors	ENST00000262577	ensembl	human	known	74_37	silent	SNP	0.994	T	T	144621417	C	T	144621417	2	4	17	1	0	0	0	0	0	0	0	1	17576	796	28	2		2	ZC3H3	8	144621417	Silent	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	68692299	144621417	1742605	25	1160											
PPP1R16A	84988	genome.wustl.edu	37	chr8	145725733	145725733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggagccggctgcaggccGgggcagacctccatgccccc	14	18	0	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr8:145725733G>A	ENST00000292539.4	+	6	1581	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.G222R|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	222						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGCAGGCCGGGGCAGACCT	0.736																																																	0								ENSG00000160972						4	7	6					8																	145725733		1850	3712	5562	PPP1R16A	SO:0001583	missense	0			-	HGNC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.664G>A	8.37:g.145725733G>A	ENSP00000292539:p.Gly222Arg	Somatic	0	25	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	33.33	D3DWM5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G222R	ENST00000292539.4	37	c.664	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	g	18.07	3.542532	0.65198	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.62364	0.03;0.03	5.44	4.55	0.56014	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75989	0.3925	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.78725	-0.2092	10	0.72032	D	0.01	.	13.1958	0.59738	0.0:0.0:0.8391:0.1609	.	222	Q96I34	PP16A_HUMAN	R	222	ENSP00000292539:G222R;ENSP00000391126:G222R	ENSP00000292539:G222R	G	+	1	0	PPP1R16A	145696541	1.000000	0.71417	0.768000	0.31515	0.040000	0.13550	2.698000	0.47068	1.269000	0.44280	0.556000	0.70494	GGG	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom		0.736	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	protein_coding	OTTHUMT00000382459.1	G	NM_032902	-		145725733	1	no_errors	ENST00000292539	ensembl	human	known	74_37	missense	SNP	0.998	A	A	145725733	G	A	145725733	3	1	17	1	0	0	0	0	1	0	0	0	12370	1116	39	1	682	1	PPP1R16A	8	145725733	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	1104316	145725733	638289	26	1161											
C9orf78	51759	genome.wustl.edu	37	chr9	132597501	132597501	+	5'UTR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcttccggacgaccggcatGgtgacaacggccgagttgta	13	11	1	1	rs199979480		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr9:132597501G>C	ENST00000372447.3	-	0	53				USP20_ENST00000372429.3_5'Flank|C9orf78_ENST00000461762.1_5'Flank|USP20_ENST00000358355.1_5'Flank|USP20_ENST00000315480.4_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CGACCGGCATGGTGACAACGG	0.701																																																	0								ENSG00000136819																																			C9orf78	SO:0001623	5_prime_UTR_variant	0			-	HGNC	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.-1C>G	9.37:g.132597501G>C		Somatic	0	83	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	35.14	B3KPX8|Q8WVU6|Q9NT39	RNA	SNP							-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			-	-		0.701	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	protein_coding	OTTHUMT00000054625.1	G	NM_016520	-		132597501	-1	no_errors	ENST00000461349	ensembl	human	known	74_37	rna	SNP	0.001	C	C	132597501	G	C	132597501	1	2	17	0	1	0	0	0	0	0	0	0	2498	1363	47	4		4	C9orf78	9	132597501	5'UTR	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		132597501	8615930	27	1162											
COBRA1	25920	genome.wustl.edu	37	chr9	140150876	140150876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtcatgaagcacctgcCcaaggtagggccctaaccct	11	14	1	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr9:140150876C>T	ENST00000343053.4	+	3	699	c.362C>T	c.(361-363)cCc>cTc	p.P121L		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	121					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AAGCACCTGCCCAAGGTAGGG	0.597																																																	0								ENSG00000188986						134	108	117					9																	140150876		2203	4300	6503	NELFB	SO:0001583	missense	0			-	HGNC	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.362C>T	9.37:g.140150876C>T	ENSP00000339495:p.Pro121Leu	Somatic	0	23	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP							pfam_COBRA1	p.P121L	ENST00000343053.4	37	c.362	CCDS7040.1	9	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983649	0.93044	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.93	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79759	-0.1668	9	0.72032	D	0.01	-34.2851	11.925	0.52814	0.0:0.9145:0.0:0.0855	.	121	Q8WX92	NELFB_HUMAN	L	121	.	ENSP00000339495:P121L	P	+	2	0	COBRA1	139270697	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.501000	0.81600	1.076000	0.40961	0.561000	0.74099	CCC	-	pfam_COBRA1		0.597	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELFB	protein_coding	OTTHUMT00000254710.1	C	NM_015456	-		140150876	1	no_errors	ENST00000343053	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140150876	C	T	140150876	3	4	17	1	0	0	0	0	1	0	0	0	3657	623	22	2	372	2	COBRA1	9	140150876	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	7553375	140150876	1062555	28	1163											
KIAA1462	57608	genome.wustl.edu	37	chr10	30317993	30317993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacacacatttatgggcaCcgtgtcttccaagtaggggt	11	11	1	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr10:30317993C>A	ENST00000375377.1	-	3	1185	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	362	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTATGGGCACCGTGTCTTCC	0.607																																																	0								ENSG00000165757						107	109	108					10																	30317993		2121	4247	6368	KIAA1462	SO:0001583	missense	0			-	HGNC	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1084G>T	10.37:g.30317993C>A	ENSP00000364526:p.Val362Leu	Somatic	0	36	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP							NULL	p.V362L	ENST00000375377.1	37	c.1084	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639898	0.29157	.	.	ENSG00000165757	ENST00000375377	T	0.14144	2.53	4.97	2.07	0.26955	.	0.607273	0.15951	N	0.236735	T	0.11452	0.0279	L	0.38175	1.15	0.09310	N	1	B	0.19073	0.033	B	0.18871	0.023	T	0.22906	-1.0203	10	0.39692	T	0.17	0.0187	10.7689	0.46310	0.0:0.788:0.0:0.212	.	362	Q9P266	K1462_HUMAN	L	362	ENSP00000364526:V362L	ENSP00000364526:V362L	V	-	1	0	KIAA1462	30357999	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.046000	0.14035	0.226000	0.20979	-0.221000	0.12465	GTG	-	NULL		0.607	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	protein_coding	OTTHUMT00000047409.1	C	NM_020848	-		30317993	-1	no_errors	ENST00000375377	ensembl	human	known	74_37	missense	SNP	0.000	A	A	30317993	C	A	30317993	3	1	17	1	0	0	0	0	1	0	0	0	8236	507	18	3	3003	3	KIAA1462	10	30317993	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		30317993	105216754	29	1164											
PCDH15	65217	genome.wustl.edu	37	chr10	55568823	55568823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaccatgggccttcttcTtgcaagcacaatgtttttcc	6	13	3	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr10:55568823T>C	ENST00000395445.1	-	36	5381	c.4987A>G	c.(4987-4989)Aga>Gga	p.R1663G	PCDH15_ENST00000395446.1_Missense_Mutation_p.R859G|PCDH15_ENST00000395442.1_Missense_Mutation_p.R528G|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.R597G	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				GGCCTTCTTCTTGCAAGCACA	0.468										HNSCC(58;0.16)																																							0								ENSG00000150275						100	76	84					10																	55568823		1568	3582	5150	PCDH15	SO:0001583	missense	0			-	HGNC	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	ENST00000395445.1:c.4987A>G	10.37:g.55568823T>C	ENSP00000378832:p.Arg1663Gly	Somatic	0	10	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.24	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R1663G	ENST00000395445.1	37	c.4987		10	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409924	0.25465	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97161	2.1;-4.27;-4.27;-4.27	5.55	2.99	0.34606	.	.	.	.	.	D	0.92427	0.7596	N	0.14661	0.345	0.58432	D	0.999992	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	D	0.88369	0.2993	9	0.72032	D	0.01	.	13.2557	0.60076	0.0:0.0:0.2616:0.7384	.	1661;1663	C6ZEF5;A2A3E2	.;.	G	1663;859;528;597	ENSP00000378832:R1663G;ENSP00000378833:R859G;ENSP00000378829:R528G;ENSP00000378827:R597G	ENSP00000378827:R597G	R	-	1	2	PCDH15	55238829	0.625000	0.27111	0.816000	0.32577	0.226000	0.24999	1.122000	0.31295	0.905000	0.36596	0.533000	0.62120	AGA	-	NULL		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	protein_coding	OTTHUMT00000291335.1	T	NM_033056	-		55568823	-1	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	SNP	0.701	C	C	55568823	T	C	55568823	3	2	17	1	0	0	0	0	1	0	0	0	11513	1617	56	5	929	5	PCDH15	10	55568823	Missense_Mutation	SNP	T	TCGA-3B-A9I3-01A-11D-A38Z-09	25250830	55568823	79965924	30	1165											
CDHR1	92211	genome.wustl.edu	37	chr10	85978986	85978986	+	IGR	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttattcaatctgagtaatgTgaatctgtactctagagttt	7	6	4	3			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr10:85978986T>A	ENST00000372117.3	+	0	5428				CDHR1_ENST00000332904.3_Missense_Mutation_p.V731E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGAGTAATGTGAATCTGTAC	0.413																																																	0								ENSG00000148600																																			CDHR1	SO:0001628	intergenic_variant	0			-	HGNC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634		10.37:g.85978986T>A		Somatic	0	67	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	75	22.68	Q69YZ8|Q8IXY5	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V731E	ENST00000372117.3	37	c.2192	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	T	8.407	0.843195	0.16963	.	.	ENSG00000148600	ENST00000332904	T	0.57907	0.37	2.61	-1.7	0.08159	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.20955	0.032	T	0.25882	-1.0119	8	0.41790	T	0.15	.	6.0946	0.20013	0.0:0.4829:0.0:0.5171	.	731	Q96JP9-2	.	E	731	ENSP00000331063:V731E	ENSP00000331063:V731E	V	+	2	0	CDHR1	85968966	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-1.434000	0.02425	-0.354000	0.08212	0.533000	0.62120	GTG	-	NULL		0.413	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	protein_coding	OTTHUMT00000049111.1	T	NM_033100	-		85978986	1	no_errors	ENST00000332904	ensembl	human	known	74_37	missense	SNP	0.001	A	A	85978986	T	A	85978986	1	1	17	0	1	0	0	0	0	0	0	0	3120	1696	59	5		5	CDHR1	10	85978986	IGR	SNP	T	TCGA-3B-A9I3-01A-11D-A38Z-09	30410163	85978986	49555761	31	1166											
MUC2	4583	genome.wustl.edu	37	chr11	1103853	1103853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgctccaccgtccccGtcaccacggaggtttcgtac	9	18	1	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr11:1103853G>T	ENST00000441003.2	+	48	8179	c.8152G>T	c.(8152-8154)Gtc>Ttc	p.V2718F		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5080					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACCGTCCCCGTCACCACGGA	0.642																																																	0								ENSG00000198788						21	24	23					11																	1103853		2044	4152	6196	MUC2	SO:0001583	missense	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8152G>T	11.37:g.1103853G>T	ENSP00000415183:p.Val2718Phe	Somatic	0	101	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q14878	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V2718F	ENST00000441003.2	37	c.8152		11	.	.	.	.	.	.	.	.	.	.	G	8.807	0.934268	0.18206	.	.	ENSG00000198788	ENST00000441003	T	0.13307	2.6	3.46	1.35	0.21983	.	.	.	.	.	T	0.11580	0.0282	L	0.41492	1.28	0.09310	N	1	P	0.51933	0.949	P	0.48454	0.578	T	0.11966	-1.0566	9	0.09843	T	0.71	.	4.2079	0.10497	0.1375:0.2416:0.621:0.0	.	2718	E7EUV1	.	F	2718	ENSP00000415183:V2718F	ENSP00000415183:V2718F	V	+	1	0	MUC2	1093853	0.001000	0.12720	0.003000	0.11579	0.232000	0.25224	0.084000	0.14891	0.805000	0.34159	0.491000	0.48974	GTC	-	smart_Cys_knot_C,pfscan_Cys_knot_C		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1103853	1	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	SNP	0.001	T	T	1103853	G	T	1103853	3	4	17	1	0	0	0	0	1	0	0	0	9977	1145	40	3	8334	3	MUC2	11	1103853	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		1103853	133902663	32	1167											
TUB	7275	genome.wustl.edu	37	chr11	8118920	8118920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagaaagggatggaccGgggcatgtaccccacctact	13	11	0	1	rs371203227		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr11:8118920G>A	ENST00000299506.2	+	7	982	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TUB_ENST00000305253.4_Missense_Mutation_p.R333Q|TUB_ENST00000534099.1_Missense_Mutation_p.R284Q	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	278					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGGATGGACCGGGGCATGTAC	0.552																																																	0								ENSG00000166402	G	GLN/ARG,GLN/ARG	0,4402		0,0,2201	106	98	101		998,833	4.7	1	11		101	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	TUB	NM_003320.4,NM_177972.2	43,43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	333/562,278/507	8118920	1,12993	2201	4296	6497	TUB	SO:0001583	missense	0			-	HGNC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.833G>A	11.37:g.8118920G>A	ENSP00000299506:p.Arg278Gln	Somatic	0	43	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.R333Q	ENST00000299506.2	37	c.998	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.448259	0.96205	0.0	1.16E-4	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96459	-4.02;-4.02;-4.02	4.71	4.71	0.59529	Tubby, C-terminal (3);	0.054291	0.64402	D	0.000001	D	0.96555	0.8876	M	0.85299	2.745	0.80722	D	1	D;D;D	0.56035	0.972;0.974;0.968	B;B;B	0.43916	0.436;0.436;0.431	D	0.97222	0.9878	10	0.59425	D	0.04	-10.2788	18.1957	0.89820	0.0:0.0:1.0:0.0	.	284;278;333	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	Q	284;333;278	ENSP00000434400:R284Q;ENSP00000305426:R333Q;ENSP00000299506:R278Q	ENSP00000299506:R278Q	R	+	2	0	TUB	8075496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.728000	0.84847	2.619000	0.88677	0.585000	0.79938	CGG	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.552	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	protein_coding	OTTHUMT00000385823.1	G	NM_003320	-		8118920	1	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8118920	G	A	8118920	3	1	17	1	0	0	0	0	1	0	0	0	16749	1116	39	1	1070	1	TUB	11	8118920	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	7015067	8118920	126887596	33	1168											
MAML2	84441	genome.wustl.edu	37	chr11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-													gctgttgctgctgctgctgcTgttgctgctgctgctgctgc					rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr11:95825372_95825374delTGT	ENST00000524717.1	-	2	3105_3107	c.1821_1823delACA	c.(1819-1824)caacag>cag	p.607_608QQ>Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ctgctgctgctgttgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000184384																																			MAML2	SO:0001651	inframe_deletion	0				HGNC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821_1823delACA	11.37:g.95825372_95825374delTGT	ENSP00000434552:p.Gln621del	Somatic	0	33	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	In_Frame_Del	DEL							pfam_Neuroggenic_mastermind-like_N	p.Q611in_frame_del	ENST00000524717.1	37	c.1823_1821	CCDS44714.1	11																																																																																			-	NULL		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	TGT				95825374	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	in_frame_del	DEL	0.003:0.003:0.003	-	-	95825374	TGT	-	95825372	7	5	17	1	0	1	0	1	0	0	0	0	9208	1580	55	0	1663	0	MAML2	11	95825372	In_Frame_Del	DEL	TGT	TCGA-3B-A9I3-01A-11D-A38Z-09	87706452	95825372	39181144	34	1169											
PKNOX2	63876	genome.wustl.edu	37	chr11	125221274	125221274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtcccgcccccaccctacCaggacagcccacaggtgagt	9	18	0	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr11:125221274C>A	ENST00000298282.9	+	4	344	c.73C>A	c.(73-75)Cag>Aag	p.Q25K	PKNOX2_ENST00000542175.1_Silent_p.T7T|PKNOX2_ENST00000530517.1_Intron	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	25					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCCACCCTACCAGGACAGCCC	0.652																																																	0								ENSG00000165495						27	31	30					11																	125221274		2086	4202	6288	PKNOX2	SO:0001583	missense	0			-	HGNC	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.73C>A	11.37:g.125221274C>A	ENSP00000298282:p.Gln25Lys	Somatic	0	31	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q25K	ENST00000298282.9	37	c.73	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	c	16.11	3.031156	0.54790	.	.	ENSG00000165495	ENST00000298282;ENST00000527238;ENST00000531212;ENST00000535518	T	0.29142	1.58	5.61	5.61	0.85477	.	0.067689	0.64402	D	0.000012	T	0.20373	0.0490	L	0.38175	1.15	0.80722	D	1	P	0.38535	0.635	B	0.27887	0.084	T	0.08207	-1.0733	10	0.05959	T	0.93	-8.6851	18.4197	0.90586	0.0:1.0:0.0:0.0	.	25	Q96KN3	PKNX2_HUMAN	K	25;25;25;13	ENSP00000298282:Q25K	ENSP00000298282:Q25K	Q	+	1	0	PKNOX2	124726484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.937000	0.75898	2.622000	0.88805	0.651000	0.88453	CAG	-	NULL		0.652	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	protein_coding	OTTHUMT00000386866.3	C		-		125221274	1	no_errors	ENST00000298282	ensembl	human	known	74_37	missense	SNP	1.000	A	A	125221274	C	A	125221274	3	1	17	1	0	0	0	0	1	0	0	0	11985	595	21	3	75	3	PKNOX2	11	125221274	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09	29395902	125221274	9785242	35	1170											
WNT10B	7480	genome.wustl.edu	37	chr12	49360194	49360194	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgcggttgtgggtatcaAtgaagatggcccggcccagc	14	9	1	2	rs146010731	byFrequency	TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr12:49360194A>T	ENST00000301061.4	-	5	1202	c.854T>A	c.(853-855)aTt>aAt	p.I285N	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	285			I -> T. {ECO:0000269|PubMed:16477437}.		bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGGTATCAATGAAGATGGC	0.622																																																	0								ENSG00000169884						39	48	45					12																	49360194		2203	4300	6503	WNT10B	SO:0001583	missense	0			-	HGNC	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"Wingless-type MMTV integration sites"	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.854T>A	12.37:g.49360194A>T	ENSP00000301061:p.Ile285Asn	Somatic	1	349	0.29		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	153	13.56	B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10	p.I285N	ENST00000301061.4	37	c.854	CCDS8775.1	12	.	.	.	.	.	.	.	.	.	.	A	19.17	3.774820	0.70107	.	.	ENSG00000169884	ENST00000301061	T	0.78003	-1.14	4.43	4.43	0.53597	.	0.072919	0.53938	D	0.000055	D	0.86619	0.5976	M	0.86805	2.84	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	D	0.87741	0.2585	10	0.87932	D	0	.	7.902	0.29740	0.9054:0.0:0.0946:0.0	.	285	O00744	WN10B_HUMAN	N	285	ENSP00000301061:I285N	ENSP00000301061:I285N	I	-	2	0	WNT10B	47646461	1.000000	0.71417	0.966000	0.40874	0.974000	0.67602	7.119000	0.77145	2.010000	0.58986	0.459000	0.35465	ATT	-	pfam_Wnt,smart_Wnt		0.622	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT10B	protein_coding	OTTHUMT00000319864.1	A	NM_003394	-		49360194	-1	no_errors	ENST00000301061	ensembl	human	known	74_37	missense	SNP	0.991	T	T	49360194	A	T	49360194	3	4	17	1	0	0	0	0	1	0	0	0	17390	101	4	5	319	5	WNT10B	12	49360194	Missense_Mutation	SNP	A	TCGA-3B-A9I3-01A-11D-A38Z-09		49360194	84491701	36	1171											
THAP2	83591	genome.wustl.edu	37	chr12	72070506	72070508	+	In_Frame_Del	DEL	GTT	GTT	-													tcttttgaagaaaaacaacaGttgttctccagctggaccat					rs140783391	byFrequency	TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	GTT	GTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr12:72070506_72070508delGTT	ENST00000308086.2	+	3	1806_1808	c.305_307delGTT	c.(304-309)agttgt>agt	p.C103del	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	103						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						AAAAACAACAGTTGTTCTCCAGC	0.34														202	0.0403355	0.0113	0.0591	5008	,	,		19109	0.003		0.0507	False		,,,				2504	0.0941																0								ENSG00000173451			82,4182		2,78,2052						2	1		dbSNP_134	46	567,7685		14,539,3573	no	coding	THAP2	NM_031435.3		16,617,5625	A1A1,A1R,RR		6.8711,1.9231,5.1854				649,11867				THAP2	SO:0001651	inframe_deletion	0				HGNC	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"THAP (C2CH-type zinc finger) domain containing"	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.305_307delGTT	12.37:g.72070509_72070511delGTT	ENSP00000310796:p.Cys103del	Somatic	0	14	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85	B2R8P3	In_Frame_Del	DEL							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.C103in_frame_del	ENST00000308086.2	37	c.305_307	CCDS9001.1	12																																																																																			-	NULL		0.34	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP2	protein_coding	OTTHUMT00000404796.1	GTT	NM_031435			72070508	1	no_errors	ENST00000308086	ensembl	human	known	74_37	in_frame_del	DEL	0.938:0.991:0.992	-	-	72070508	GTT	-	72070506	7	5	17	1	0	1	0	1	0	0	0	0	15851	1029	36	0	315	0	THAP2	12	72070506	In_Frame_Del	DEL	GTT	TCGA-3B-A9I3-01A-11D-A38Z-09	22710312	72070506	61781389	37	1172											
FREM2	341640	genome.wustl.edu	37	chr13	39265091	39265091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttatggtgatggaaggcAtgagtctggtaattgataca	12	3	1	3			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr13:39265091A>C	ENST00000280481.7	+	1	3826	c.3610A>C	c.(3610-3612)Atg>Ctg	p.M1204L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1204					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)		GATGGAAGGCATGAGTCTGGT	0.413																																																	0								ENSG00000150893						272	257	262					13																	39265091		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.3610A>C	13.37:g.39265091A>C	ENSP00000280481:p.Met1204Leu	Somatic	0	19	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	35.29	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.M1204L	ENST00000280481.7	37	c.3610	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126807	0.56721	.	.	ENSG00000150893	ENST00000280481	T	0.50277	0.75	6.08	4.91	0.64330	.	0.075314	0.85682	D	0.000000	T	0.58250	0.2109	M	0.89214	3.015	0.58432	D	0.999999	P	0.42483	0.781	P	0.44732	0.459	T	0.60347	-0.7281	10	0.27082	T	0.32	.	12.0888	0.53713	0.9334:0.0:0.0666:0.0	.	1204	Q5SZK8	FREM2_HUMAN	L	1204	ENSP00000280481:M1204L	ENSP00000280481:M1204L	M	+	1	0	FREM2	38163091	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.526000	0.81920	1.131000	0.42111	0.533000	0.62120	ATG	-	superfamily_Cadherin-like		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	A	NM_207361	-		39265091	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39265091	A	C	39265091	3	2	17	1	0	0	0	0	1	0	0	0	6047	217	8	5	3612	5	FREM2	13	39265091	Missense_Mutation	SNP	A	TCGA-3B-A9I3-01A-11D-A38Z-09		39265091	75904787	38	1173											
RB1	5925	genome.wustl.edu	37	chr13	49050980	49050980	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgaagcagatggaagGtaggaaccagttttgaatgt	13	4	1	4			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr13:49050980G>A	ENST00000267163.4	+	25	2801		c.e25+1		RB1_ENST00000484879.1_Splice_Site	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAGATGGAAGGTAGGAACCAG	0.458		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)						ENSG00000139687						116	112	113					13																	49050980		2203	4300	6503	RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2663+1G>A	13.37:g.49050980G>A		Somatic	0	32	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	87	19.44	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP							-	e25+1	ENST00000267163.4	37	c.2663+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435521	0.83885	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7343	0.96195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47948981	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.724000	0.91462	2.751000	0.94390	0.591000	0.81541	.	-	-		0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-	Intron	49050980	1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	49050980	G	A	49050980	5	1	17	1	0	0	0	0	0	0	1	0	13106	1275	44	2	2762	2	RB1	13	49050980	Splice_Site	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	9785889	49050980	66118898	39	1174											
RASA3	22821	genome.wustl.edu	37	chr13	114773080	114773080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggacgaaatcagatccaaGaactaaagttggaagaaatc	10	6	1	3			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr13:114773080G>C	ENST00000334062.7	-	18	1792	c.1671C>G	c.(1669-1671)ttC>ttG	p.F557L	RASA3_ENST00000389544.4_Missense_Mutation_p.F525L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	557					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGATCCAAGAACTAAAGTT	0.542																																																	0								ENSG00000185989						89	78	81					13																	114773080		2202	4299	6501	RASA3	SO:0001583	missense	0			-	HGNC		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1671C>G	13.37:g.114773080G>C	ENSP00000335029:p.Phe557Leu	Somatic	0	82	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP							pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.F557L	ENST00000334062.7	37	c.1671	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589520	0.28357	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.22743	1.94;1.94	4.58	1.84	0.25277	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	M	0.71206	2.165	0.80722	D	1	B	0.29835	0.258	B	0.35312	0.2	T	0.02721	-1.1119	9	.	.	.	.	9.4201	0.38546	0.2474:0.0:0.7525:0.0	.	557	Q14644	RASA3_HUMAN	L	557;525	ENSP00000335029:F557L;ENSP00000374195:F525L	.	F	-	3	2	RASA3	113791182	1.000000	0.71417	0.352000	0.25734	0.142000	0.21351	0.829000	0.27449	0.113000	0.18004	-0.258000	0.10820	TTC	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.542	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	protein_coding	OTTHUMT00000045957.2	G	NM_007368	-		114773080	-1	no_errors	ENST00000334062	ensembl	human	known	74_37	missense	SNP	0.997	C	C	114773080	G	C	114773080	3	2	17	1	0	0	0	0	1	0	0	0	13070	933	33	4	861	4	RASA3	13	114773080	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	65722100	114773080	396798	40	1175											
FLJ10357	55701	genome.wustl.edu	37	chr14	21554011	21554011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgctgtggagacaggCagcccacaacaagggtactg	13	12	0	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr14:21554011C>T	ENST00000298694.4	+	19	4251	c.4124C>T	c.(4123-4125)gCa>gTa	p.A1375V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A1375V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1375						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGGAGACAGGCAGCCCACAAC	0.562																																																	0								ENSG00000165801						61	54	56					14																	21554011		2203	4300	6503	ARHGEF40	SO:0001583	missense	0			-	HGNC		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.4124C>T	14.37:g.21554011C>T	ENSP00000298694:p.Ala1375Val	Somatic	0	24	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A1375V	ENST00000298694.4	37	c.4124	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377776	0.82682	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.11604	2.76;2.76	5.52	5.52	0.82312	Pleckstrin homology-type (1);	0.000000	0.53938	D	0.000058	T	0.40670	0.1126	M	0.92122	3.275	0.44985	D	0.998007	D;P;D	0.67145	0.984;0.94;0.996	D;D;D	0.72982	0.979;0.926;0.914	T	0.45991	-0.9223	10	0.54805	T	0.06	.	12.6455	0.56731	0.0:0.8337:0.1663:0.0	.	1375;1375;661	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	V	1375	ENSP00000298694:A1375V;ENSP00000298693:A1375V	ENSP00000298693:A1375V	A	+	2	0	ARHGEF40	20623851	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.507000	0.60434	2.586000	0.87340	0.655000	0.94253	GCA	-	NULL		0.562	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	protein_coding	OTTHUMT00000413122.1	C		-		21554011	1	no_errors	ENST00000298694	ensembl	human	known	74_37	missense	SNP	0.998	T	T	21554011	C	T	21554011	3	4	17	1	0	0	0	0	1	0	0	0	5928	710	25	2	4198	2	FLJ10357	14	21554011	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		21554011	85795529	41	1176											
TP53BP1	7158	genome.wustl.edu	37	chr15	43749174	43749174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaatctgtgtgttttctccAtcttcatcaattctgtgaga	6	9	7	1			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr15:43749174A>T	ENST00000263801.3	-	12	1869	c.1617T>A	c.(1615-1617)gaT>gaA	p.D539E	TP53BP1_ENST00000450115.2_Missense_Mutation_p.D544E|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D544E|TP53BP1_ENST00000382044.4_Missense_Mutation_p.D544E|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	539					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTTTTCTCCATCTTCATCAA	0.403								Other conserved DNA damage response genes																																									0								ENSG00000067369						142	123	129					15																	43749174		2201	4298	6499	TP53BP1	SO:0001583	missense	0			-	HGNC	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1617T>A	15.37:g.43749174A>T	ENSP00000263801:p.Asp539Glu	Somatic	0	34	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	91	9.90	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP							pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.D544E	ENST00000263801.3	37	c.1632	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418697	0.42918	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.04	0.0937	0.14477	.	0.063969	0.64402	D	0.000014	T	0.21387	0.0515	M	0.73598	2.24	0.37885	D	0.930535	P;P;P;P	0.49961	0.858;0.886;0.93;0.93	P;B;P;P	0.45881	0.472;0.301;0.496;0.496	T	0.34254	-0.9836	10	0.12766	T	0.61	-6.4613	5.8147	0.18486	0.4165:0.0:0.4428:0.1407	.	544;539;544;544	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	E	539;544;544;544;544	ENSP00000263801:D539E;ENSP00000371475:D544E;ENSP00000371470:D544E;ENSP00000393497:D544E;ENSP00000388028:D544E	ENSP00000263801:D539E	D	-	3	2	TP53BP1	41536466	0.902000	0.30710	0.998000	0.56505	0.968000	0.65278	0.179000	0.16840	0.043000	0.15746	0.460000	0.39030	GAT	-	NULL		0.403	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	protein_coding	OTTHUMT00000132897.3	A		-		43749174	-1	no_errors	ENST00000382044	ensembl	human	known	74_37	missense	SNP	0.971	T	T	43749174	A	T	43749174	3	4	17	1	0	0	0	0	1	0	0	0	16390	214	8	5	4369	5	TP53BP1	15	43749174	Missense_Mutation	SNP	A	TCGA-3B-A9I3-01A-11D-A38Z-09		43749174	58782218	42	1177											
ABCC1	4363	genome.wustl.edu	37	chr16	16205244	16205244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccaggtcaagctttccGtgtactgggactacatgaag	10	10	2	1	rs371105838		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr16:16205244G>A	ENST00000399410.3	+	22	3059	c.2884G>A	c.(2884-2886)Gtg>Atg	p.V962M	ABCC1_ENST00000351154.5_Missense_Mutation_p.V903M|ABCC1_ENST00000345148.5_Missense_Mutation_p.V962M|ABCC1_ENST00000346370.5_Missense_Mutation_p.V906M|ABCC1_ENST00000399408.2_Missense_Mutation_p.V972M|ABCC1_ENST00000349029.5_Missense_Mutation_p.V847M	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	962					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CAAGCTTTCCGTGTACTGGGA	0.557																																																	0								ENSG00000103222	G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4243		0,1,2121	179	189	186		2884,2707,2716,2539,2884	4.7	1	16		186	0,8470		0,0,4235	no	missense,missense,missense,missense,missense	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	21,21,21,21,21	0,1,6356	AA,AG,GG		0.0,0.0236,0.0079	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	962/1532,903/1473,906/1476,847/1417,962/1467	16205244	1,12713	2122	4235	6357	ABCC1	SO:0001583	missense	0			-	HGNC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2884G>A	16.37:g.16205244G>A	ENSP00000382342:p.Val962Met	Somatic	0	48	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.V972M	ENST00000399410.3	37	c.2914	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494921	0.64186	2.36E-4	0.0	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91894	-2.92;-2.93;-2.64;-2.75;-2.88;-2.84	5.66	4.68	0.58851	ABC transporter, transmembrane domain, type 1 (1);	0.187299	0.46758	D	0.000265	D	0.95211	0.8447	M	0.72353	2.195	0.47737	D	0.999507	P;P;D;D;D;D	0.71674	0.758;0.531;0.996;0.994;0.993;0.998	B;B;D;P;P;D	0.70487	0.358;0.092;0.922;0.869;0.872;0.969	D	0.94777	0.7950	10	0.44086	T	0.13	-28.972	15.5785	0.76414	0.0:0.138:0.862:0.0	.	847;962;906;903;962;972	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	M	962;972;906;903;962;847;646	ENSP00000382342:V962M;ENSP00000382340:V972M;ENSP00000263019:V906M;ENSP00000263017:V903M;ENSP00000263014:V962M;ENSP00000263016:V847M	ENSP00000263014:V962M	V	+	1	0	ABCC1	16112745	1.000000	0.71417	0.964000	0.40570	0.741000	0.42261	5.708000	0.68377	1.358000	0.45922	0.650000	0.86243	GTG	-	superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.557	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	protein_coding	OTTHUMT00000109701.1	G	NM_004996	-		16205244	1	no_errors	ENST00000399408	ensembl	human	known	74_37	missense	SNP	0.997	A	A	16205244	G	A	16205244	3	1	17	1	0	0	0	0	1	0	0	0	49	1145	40	1	2970	1	ABCC1	16	16205244	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		16205244	74149509	43	1178											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	ENSG00000141510						50	50	50					17																	7578406		2203	4300	6503	TP53	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;	-	HGNC	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic	0	63	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	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);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs28934578		7578406	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7578406	C	T	7578406	3	4	17	1	0	0	0	0	1	0	0	0	16388	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		7578406	73616804	44	1179											
MYO5B	4645	genome.wustl.edu	37	chr18	47455929	47455929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatcgtctccaacaccccGcaggctctgagttgctgcac	9	16	2	1	rs2969930	byFrequency	TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr18:47455929G>A	ENST00000285039.7	-	17	2342	c.2043C>T	c.(2041-2043)tgC>tgT	p.C681C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	681	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)		CCAACACCCCGCAGGCTCTGA	0.527													G|||	2	0.000399361	0	0	5008	,	,		14977	0		0.001	False		,,,				2504	0.001																0								ENSG00000167306	G		0,3850		0,0,1925	29	30	29		2043	-10.2	0.1	18	dbSNP_101	29	3,8261		0,3,4129	no	coding-synonymous	MYO5B	NM_001080467.2		0,3,6054	AA,AG,GG		0.0363,0.0,0.0248		681/1849	47455929	3,12111	1925	4132	6057	MYO5B	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.2043C>T	18.37:g.47455929G>A		Somatic	0	49	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	82	18.81	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C681	ENST00000285039.7	37	c.2043	CCDS42436.1	18																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	G		rs2969930		47455929	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	silent	SNP	0.110	A	A	47455929	G	A	47455929	2	1	17	1	0	0	0	0	0	0	0	1	10081	1079	38	1		1	MYO5B	18	47455929	Silent	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		47455929	30621319	45	1180											
ZNF407	55628	genome.wustl.edu	37	chr18	72776361	72776361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcatctacacccaggaGggctcctcggccgcggcggc	15	15	2	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr18:72776361G>T	ENST00000299687.5	+	8	6684	c.6684G>T	c.(6682-6684)gaG>gaT	p.E2228D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACACCCAGGAGGGCTCCTCGG	0.657																																																	0								ENSG00000215421						5	7	6					18																	72776361		2002	4126	6128	ZNF407	SO:0001583	missense	0			-	HGNC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6684G>T	18.37:g.72776361G>T	ENSP00000299687:p.Glu2228Asp	Somatic	0	187	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	72	12.20	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.E2228D	ENST00000299687.5	37	c.6684	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	7.862	0.726288	0.15439	.	.	ENSG00000215421	ENST00000299687	T	0.08370	3.1	4.78	-8.53	0.00916	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56583	-0.7955	9	0.05351	T	0.99	.	5.0388	0.14449	0.0753:0.3381:0.1058:0.4807	.	2228	Q9C0G0	ZN407_HUMAN	D	2228	ENSP00000299687:E2228D	ENSP00000299687:E2228D	E	+	3	2	ZNF407	70905349	0.019000	0.18553	0.209000	0.23619	0.785000	0.44390	-1.636000	0.02016	0.963000	0.38082	0.462000	0.41574	GAG	-	NULL		0.657	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	protein_coding	OTTHUMT00000444903.1	G	NM_017757	-		72776361	1	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	SNP	0.956	T	T	72776361	G	T	72776361	3	4	17	1	0	0	0	0	1	0	0	0	17894	991	35	3	6844	3	ZNF407	18	72776361	Missense_Mutation	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	25320432	72776361	5300887	46	1181											
TICAM1	148022	genome.wustl.edu	37	chr19	4816340	4816340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagctgtaccatctgtgCgtggtggataatgaggggtt	14	9	1	1	rs376421303		TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr19:4816340C>T	ENST00000248244.5	-	2	2279	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	684	Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		ACCATCTGTGCGTGGTGGATA	0.632																																																	0								ENSG00000127666	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	82	76	78		2050	4.7	0.6	19		78	0,8600		0,0,4300	no	missense	TICAM1	NM_182919.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	684/713	4816340	1,13005	2203	4300	6503	TICAM1	SO:0001583	missense	0			-	HGNC	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.2050G>A	19.37:g.4816340C>T	ENSP00000248244:p.Ala684Thr	Somatic	0	64	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP							superfamily_TIR_dom,pirsf_TICAM1	p.A684T	ENST00000248244.5	37	c.2050	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771422	0.69992	2.27E-4	0.0	ENSG00000127666	ENST00000248244	T	0.54479	0.57	4.68	4.68	0.58851	.	0.000000	0.34906	U	0.003584	T	0.62270	0.2414	L	0.32530	0.975	0.31593	N	0.6537	D	0.89917	1.0	D	0.97110	1.0	T	0.68228	-0.5464	10	0.87932	D	0	-22.2173	14.6713	0.68945	0.0:1.0:0.0:0.0	.	684	Q8IUC6	TCAM1_HUMAN	T	684	ENSP00000248244:A684T	ENSP00000248244:A684T	A	-	1	0	TICAM1	4767340	0.989000	0.36119	0.629000	0.29254	0.403000	0.30841	4.195000	0.58400	2.293000	0.77203	0.561000	0.74099	GCA	-	pirsf_TICAM1		0.632	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	protein_coding	OTTHUMT00000450435.1	C	NM_014261	-		4816340	-1	no_errors	ENST00000248244	ensembl	human	known	74_37	missense	SNP	0.704	T	T	4816340	C	T	4816340	3	4	17	1	0	0	0	0	1	0	0	0	15899	768	27	1	92	1	TICAM1	19	4816340	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		4816340	54312643	47	1182											
MATN4	8785	genome.wustl.edu	37	chr20	43926658	43926658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctccgaggcgatctcGcgcagctccgcctccaccgc	12	19	1	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr20:43926658G>A	ENST00000372754.1	-	8	1610	c.1602C>T	c.(1600-1602)cgC>cgT	p.R534R	MATN4_ENST00000360607.6_Silent_p.R452R|MATN4_ENST00000342716.4_Silent_p.R493R|MATN4_ENST00000372756.1_Silent_p.R493R|MATN4_ENST00000537548.1_Silent_p.R493R|MATN4_ENST00000372751.4_Silent_p.R344R|MATN4_ENST00000353917.5_Silent_p.R411R			O95460	MATN4_HUMAN	matrilin 4	534	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCGATCTCGCGCAGCTCCG	0.672																																																	0								ENSG00000124159																																			MATN4	SO:0001819	synonymous_variant	0			-	HGNC	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1602C>T	20.37:g.43926658G>A		Somatic	0	68	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	23.91	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP							pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.R534	ENST00000372754.1	37	c.1602		20																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.672	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	protein_coding	OTTHUMT00000080335.1	G		-		43926658	-1	no_errors	ENST00000372754	ensembl	human	known	74_37	silent	SNP	0.003	A	A	43926658	G	A	43926658	2	1	17	1	0	0	0	0	0	0	0	1	9338	1074	38	1		1	MATN4	20	43926658	Silent	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		43926658	19098862	48	1183											
ABCG1	9619	genome.wustl.edu	37	chr21	43711222	43711222	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctggagatgggagtcTttcttcgggaacacctgaac	11	11	2	2			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr21:43711222T>A	ENST00000361802.2	+	12	1595	c.1450T>A	c.(1450-1452)Ttt>Att	p.F484I	ABCG1_ENST00000398437.1_Missense_Mutation_p.F630I|ABCG1_ENST00000398457.2_Missense_Mutation_p.F474I|ABCG1_ENST00000340588.4_Missense_Mutation_p.F592I|ABCG1_ENST00000347800.2_Missense_Mutation_p.F469I|ABCG1_ENST00000343687.3_Missense_Mutation_p.F483I|ABCG1_ENST00000398449.3_Missense_Mutation_p.F472I|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	484	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GATGGGAGTCTTTCTTCGGGA	0.532																																																	0								ENSG00000160179						112	87	96					21																	43711222		2203	4300	6503	ABCG1	SO:0001583	missense	0			-	HGNC	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1450T>A	21.37:g.43711222T>A	ENSP00000354995:p.Phe484Ile	Somatic	0	74	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.F630I	ENST00000361802.2	37	c.1888	CCDS13682.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.031533|4.031533	0.75504|0.75504	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.72835|.	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69|.	3.97|3.97	3.97|3.97	0.46021|0.46021	ABC-2 type transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71324|0.71324	0.3326|0.3326	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	P;D;D;B;P;D|.	0.76494|.	0.587;0.964;0.999;0.357;0.847;0.989|.	B;P;D;B;P;D|.	0.75020|.	0.241;0.835;0.98;0.237;0.73;0.985|.	T|T	0.72154|0.72154	-0.4376|-0.4376	9|5	.|.	.|.	.|.	-17.0863|-17.0863	13.1771|13.1771	0.59633|0.59633	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;483;484;472;469;474|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	I|H	474;469;472;484;483;630;592|219;207;207	ENSP00000381475:F474I;ENSP00000291524:F469I;ENSP00000381467:F472I;ENSP00000354995:F484I;ENSP00000339744:F483I;ENSP00000381464:F630I;ENSP00000343820:F592I|.	.|.	F|L	+|+	1|2	0|0	ABCG1|ABCG1	42584291|42584291	1.000000|1.000000	0.71417|0.71417	0.191000|0.191000	0.23289|0.23289	0.893000|0.893000	0.52053|0.52053	7.654000|7.654000	0.83653|0.83653	1.582000|1.582000	0.49881|0.49881	0.383000|0.383000	0.25322|0.25322	TTT|CTT	-	pfam_ABC_2_trans,tigrfam_Pigment_permease		0.532	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	protein_coding	OTTHUMT00000195318.2	T	NM_207174	-		43711222	1	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	SNP	0.997	A	A	43711222	T	A	43711222	3	1	17	1	0	0	0	0	1	0	0	0	68	1609	56	5	1664	5	ABCG1	21	43711222	Missense_Mutation	SNP	T	TCGA-3B-A9I3-01A-11D-A38Z-09		43711222	4418673	49	1184											
TAB1	10454	genome.wustl.edu	37	chr22	39811644	39811644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccgaggccgatgtgcggCgtgtgctgctgcaggtaatg	17	10	0	0			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chr22:39811644C>T	ENST00000216160.6	+	3	372	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	TAB1_ENST00000331454.3_Missense_Mutation_p.R104C	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	104	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGATGTGCGGCGTGTGCTGCT	0.647																																																	0								ENSG00000100324						38	34	36					22																	39811644		2203	4299	6502	TAB1	SO:0001583	missense	0			-	HGNC	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.310C>T	22.37:g.39811644C>T	ENSP00000216160:p.Arg104Cys	Somatic	0	133	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	Q2PP09|Q8IZW2	Missense_Mutation	SNP							pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R104C	ENST00000216160.6	37	c.310	CCDS13993.1	22	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665435	0.29604	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.10192	2.9;2.9	5.23	4.17	0.49024	Protein phosphatase 2C-like (4);	0.129212	0.50627	D	0.000109	T	0.24353	0.0590	L	0.46157	1.445	0.58432	D	0.999992	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.81914	0.675;0.734;0.995	T	0.00346	-1.1800	10	0.62326	D	0.03	-24.9071	12.2775	0.54744	0.2998:0.7002:0.0:0.0	.	104;104;248	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	C	104	ENSP00000216160:R104C;ENSP00000333049:R104C	ENSP00000216160:R104C	R	+	1	0	TAB1	38141590	0.955000	0.32602	0.981000	0.43875	0.939000	0.58152	1.472000	0.35376	2.450000	0.82876	0.655000	0.94253	CGT	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.647	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB1	protein_coding	OTTHUMT00000321313.1	C	NM_153497	-		39811644	1	no_errors	ENST00000216160	ensembl	human	known	74_37	missense	SNP	0.849	T	T	39811644	C	T	39811644	3	4	17	1	0	0	0	0	1	0	0	0	15502	768	27	1	320	1	TAB1	22	39811644	Missense_Mutation	SNP	C	TCGA-3B-A9I3-01A-11D-A38Z-09		39811644	11492922	50	1185											
MOSPD2	158747	genome.wustl.edu	37	chrX	14933790	14933790	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactgtgtttataaatagGtgagaacaacagctccagaa	8	7	0	2			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chrX:14933790G>A	ENST00000380492.3	+	12	1178	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	MOSPD2_ENST00000482354.1_Splice_Site_p.V364M|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	364	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TTATAAATAGGTGAGAACAAC	0.373																																																	0								ENSG00000130150						98	103	101					X																	14933790		2203	4300	6503	MOSPD2	SO:0001630	splice_region_variant	0			-	HGNC	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1090-1G>A	X.37:g.14933790G>A		Somatic	0	19	0		0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	37	47.14	Q8N3H2|Q8NA83	Missense_Mutation	SNP							pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.V364M	ENST00000380492.3	37	c.1090	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848078	0.91277	.	.	ENSG00000130150	ENST00000380492	T	0.80393	-1.37	5.83	5.83	0.93111	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.91610	0.7349	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92314	0.5860	9	.	.	.	.	18.6997	0.91615	0.0:0.0:1.0:0.0	.	364	Q8NHP6	MSPD2_HUMAN	M	364	ENSP00000369860:V364M	.	V	+	1	0	MOSPD2	14843711	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.325000	0.96381	2.460000	0.83146	0.600000	0.82982	GTG	-	pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom		0.373	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	protein_coding	OTTHUMT00000055837.1	G	NM_152581	-	Missense_Mutation	14933790	1	no_errors	ENST00000380492	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14933790	G	A	14933790	5	1	17	1	0	0	0	0	0	0	1	0	9718	1275	44	2	1136	2	MOSPD2	23	14933790	Splice_Site	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09		14933790	140336770	51	1186											
FAM127B	26071	genome.wustl.edu	37	chrX	134185397	134185397	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatggcagtggtagcgtagGtctgtgggcagaatgatgta	17	5	1	2			TCGA-3B-A9I3-01A-11D-A38Z-09	TCGA-3B-A9I3-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e1ec5e-069a-468e-86f6-24657fdeff5a	1fdd19d3-2a91-411e-b3aa-e425aa45b4ce	g.chrX:134185397G>T	ENST00000370775.2	-	0	808				FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B											breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGTAGCGTAGGTCTGTGGGCA	0.592											OREG0019941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000203950						341	263	287					X																	134185397		692	1591	2283	FAM127B	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.*400C>A	X.37:g.134185397G>T		Somatic	0	26	0	1608	0.545250458100012				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A2A2V9|Q8TBU2	RNA	SNP							-	NULL	ENST00000370775.2	37	NULL	CCDS43998.1	X																																																																																			-	-		0.592	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	G	NM_001078172	-		134185397	-1	no_errors	ENST00000518153	ensembl	human	known	74_37	rna	SNP	0.009	T	T	134185397	G	T	134185397	1	4	17	0	1	0	0	0	0	0	0	0	5434	1275	44	3		3	FAM127B	23	134185397	3'UTR	SNP	G	TCGA-3B-A9I3-01A-11D-A38Z-09	119251607	134185397	21085163	52	1187											
KLHL21	9903	genome.wustl.edu	37	chr1	6659372	6659372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcggtgctgtcggcggCcaccacgtacagcagtccgt	14	15	0	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:6659372C>A	ENST00000377658.4	-	2	1213	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	KLHL21_ENST00000467612.1_Missense_Mutation_p.A21S|KLHL21_ENST00000377663.3_Missense_Mutation_p.A388S|KLHL21_ENST00000463043.1_Missense_Mutation_p.A21S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	388					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGTCGGCGGCCACCACGTAC	0.642																																																	0								ENSG00000162413						111	101	105					1																	6659372		2203	4300	6503	KLHL21	SO:0001583	missense	0			-	HGNC	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1162G>T	1.37:g.6659372C>A	ENSP00000366886:p.Ala388Ser	Somatic	0	15	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A388S	ENST00000377658.4	37	c.1162	CCDS30575.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959829	0.74016	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.78003	-1.14;-1.14	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.050572	0.85682	D	0.000000	T	0.77491	0.4138	L	0.33245	0.995	0.80722	D	1	B;D	0.55385	0.058;0.971	B;P	0.50934	0.056;0.654	T	0.80854	-0.1196	10	0.87932	D	0	.	17.9782	0.89132	0.0:1.0:0.0:0.0	.	388;388	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	S	388	ENSP00000366886:A388S;ENSP00000366891:A388S	ENSP00000366886:A388S	A	-	1	0	KLHL21	6581959	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	7.818000	0.86416	2.557000	0.86248	0.655000	0.94253	GCC	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.642	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL21	protein_coding	OTTHUMT00000004188.1	C	NM_014851	-		6659372	-1	no_errors	ENST00000377658	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6659372	C	A	6659372	3	1	18	1	0	0	0	0	1	0	0	0	8378	739	26	3	643	3	KLHL21	1	6659372	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		6659372	242591249	1	1188											
ZNF642	339559	genome.wustl.edu	37	chr1	40960772	40960772	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaggaaacttgtatgagaGatgtgagacaagccatcttg	11	7	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:40960772G>A	ENST00000372706.1	+	6	1628	c.622G>A	c.(622-624)Gat>Aat	p.D208N	ZFP69_ENST00000372705.3_Missense_Mutation_p.D208N|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTGTATGAGAGATGTGAGACA	0.363																																																	0								ENSG00000187815						81	80	80					1																	40960772		2203	4300	6503	ZFP69	SO:0001583	missense	0			-	HGNC	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.622G>A	1.37:g.40960772G>A	ENSP00000361791:p.Asp208Asn	Somatic	0	71	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D208N	ENST00000372706.1	37	c.622	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	G	2.760	-0.258128	0.05791	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04502	3.61;3.61	4.23	2.37	0.29283	.	0.517066	0.16268	N	0.221939	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	10	0.27785	T	0.31	-0.2144	6.204	0.20591	0.3044:0.0:0.6956:0.0	.	208	Q49AA0	ZN642_HUMAN	N	208	ENSP00000361791:D208N;ENSP00000361790:D208N	ENSP00000361790:D208N	D	+	1	0	ZNF642	40733359	0.000000	0.05858	0.068000	0.19968	0.845000	0.48019	0.159000	0.16442	0.747000	0.32809	0.563000	0.77884	GAT	-	NULL		0.363	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZFP69	protein_coding	OTTHUMT00000019082.1	G	NM_198494	-		40960772	1	no_errors	ENST00000372705	ensembl	human	known	74_37	missense	SNP	0.006	A	A	40960772	G	A	40960772	3	1	18	1	0	0	0	0	1	0	0	0	18065	942	33	2	640	2	ZNF642	1	40960772	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	34301400	40960772	208289849	2	1189											
UROD	7389	genome.wustl.edu	37	chr1	45479716	45479716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctctggtcccatatctgGtaggacaagtggtggctggt	14	8	2	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:45479716G>T	ENST00000246337.4	+	6	729	c.610G>T	c.(610-612)Gta>Tta	p.V204L	UROD_ENST00000494399.1_3'UTR|HECTD3_ENST00000372172.4_5'Flank	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	204					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCCATATCTGGTAGGACAAGT	0.547									Porphyria Cutanea Tarda, Type II																																								0								ENSG00000126088						82	86	85					1																	45479716		2203	4300	6503	UROD	SO:0001583	missense	0	Familial Cancer Database	PCT-II	-	HGNC	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.610G>T	1.37:g.45479716G>T	ENSP00000246337:p.Val204Leu	Somatic	0	44	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP							pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE	p.V204L	ENST00000246337.4	37	c.610	CCDS518.1	1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621545	0.28889	.	.	ENSG00000126088	ENST00000246337;ENST00000434478;ENST00000372135	D;D	0.94092	-3.35;-3.35	5.22	3.34	0.38264	Uroporphyrinogen decarboxylase (URO-D) (1);	0.187983	0.47093	D	0.000246	D	0.87521	0.6198	N	0.25201	0.72	0.38685	D	0.952634	B;B	0.13145	0.007;0.0	B;B	0.24269	0.052;0.001	T	0.82701	-0.0327	10	0.45353	T	0.12	-17.0029	11.0846	0.48080	0.1394:0.0:0.8606:0.0	.	148;204	B4DEM5;P06132	.;DCUP_HUMAN	L	204;183;183	ENSP00000246337:V204L;ENSP00000404489:V183L	ENSP00000246337:V204L	V	+	1	0	UROD	45252303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.356000	0.44116	0.769000	0.33313	0.650000	0.86243	GTA	-	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE		0.547	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	protein_coding	OTTHUMT00000024803.1	G	NM_000374	-		45479716	1	no_errors	ENST00000246337	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45479716	G	T	45479716	3	4	18	1	0	0	0	0	1	0	0	0	17036	1261	44	3	632	3	UROD	1	45479716	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	4518944	45479716	203770905	3	1190											
DOCK7	85440	genome.wustl.edu	37	chr1	63009394	63009394	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtgtgcgaagacataCgattacaacttcgatccata	7	10	1	1	rs376417713		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:63009394C>G	ENST00000340370.5	-	23	2806	c.2789G>C	c.(2788-2790)cGt>cCt	p.R930P	DOCK7_ENST00000251157.5_Missense_Mutation_p.R961P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	961					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CGAAGACATACGATTACAACT	0.398																																																	0								ENSG00000116641						134	122	126					1																	63009394		2203	4300	6503	DOCK7	SO:0001583	missense	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2789G>C	1.37:g.63009394C>G	ENSP00000340742:p.Arg930Pro	Somatic	0	68	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.R961P	ENST00000340370.5	37	c.2882	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684541	0.68157	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.24723	1.84;1.84	5.3	5.3	0.74995	.	0.059391	0.64402	D	0.000001	T	0.42268	0.1195	L	0.53249	1.67	0.80722	D	1	D;P;D;D;P	0.59767	0.963;0.881;0.986;0.986;0.923	P;B;P;P;P	0.55824	0.614;0.408;0.785;0.706;0.479	T	0.08597	-1.0714	10	0.44086	T	0.13	.	19.136	0.93428	0.0:1.0:0.0:0.0	.	961;930;930;930;961	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	P	961;961;930	ENSP00000251157:R961P;ENSP00000340742:R930P	ENSP00000251157:R961P	R	-	2	0	DOCK7	62781982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.754000	0.94517	0.650000	0.86243	CGT	-	NULL		0.398	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	C	NM_033407	-		63009394	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	SNP	1.000	G	G	63009394	C	G	63009394	3	3	18	1	0	0	0	0	1	0	0	0	4694	536	19	4	3648	4	DOCK7	1	63009394	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	17529678	63009394	186241227	4	1191											
GBP1	2633	genome.wustl.edu	37	chr1	89520439	89520439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctccatcttctcagtcaGttgtttcaagtgttcctgat	7	10	5	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:89520439G>T	ENST00000370473.4	-	10	1810	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	531					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)		TTCTCAGTCAGTTGTTTCAAG	0.448																																																	0								ENSG00000117228						325	330	328					1																	89520439		2203	4300	6503	GBP1	SO:0001583	missense	0			-	HGNC	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.1591C>A	1.37:g.89520439G>T	ENSP00000359504:p.Leu531Met	Somatic	0	65	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	D3DT26|Q5T8M1	Missense_Mutation	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.L531M	ENST00000370473.4	37	c.1591	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586815	0.28268	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.04502	3.61	4.67	-7.83	0.01201	Guanylate-binding protein, C-terminal (3);	0.522858	0.18397	N	0.142474	T	0.03305	0.0096	M	0.79343	2.45	0.09310	N	0.999998	P	0.46987	0.888	P	0.51193	0.662	T	0.00915	-1.1516	10	0.48119	T	0.1	.	6.1669	0.20396	0.2834:0.0:0.4816:0.235	.	531	P32455	GBP1_HUMAN	M	531;494	ENSP00000359504:L531M	ENSP00000359504:L531M	L	-	1	2	GBP1	89293027	0.000000	0.05858	0.013000	0.15412	0.416000	0.31233	-1.336000	0.02660	-1.141000	0.02873	0.491000	0.48974	CTG	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	protein_coding	OTTHUMT00000029289.3	G	NM_002053	-		89520439	-1	no_errors	ENST00000370473	ensembl	human	known	74_37	missense	SNP	0.003	T	T	89520439	G	T	89520439	3	4	18	1	0	0	0	0	1	0	0	0	6275	1020	36	3	195	3	GBP1	1	89520439	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	26511045	89520439	159730182	5	1192											
GDAP2	54834	genome.wustl.edu	37	chr1	118462911	118462911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggaatttaattcatcttGgcatgagtcaccccagcttg	9	9	3	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:118462911G>T	ENST00000369443.5	-	2	319	c.70C>A	c.(70-72)Caa>Aaa	p.Q24K	GDAP2_ENST00000369442.3_Missense_Mutation_p.Q24K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	24					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AATTCATCTTGGCATGAGTCA	0.413																																																	0								ENSG00000196505						92	89	90					1																	118462911		2203	4300	6503	GDAP2	SO:0001583	missense	0			-	HGNC	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.70C>A	1.37:g.118462911G>T	ENSP00000358451:p.Gln24Lys	Somatic	0	54	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q96DZ0	Missense_Mutation	SNP							pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom	p.Q24K	ENST00000369443.5	37	c.70	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092069	0.01858	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.34275	1.65;1.37	5.22	3.31	0.37934	.	0.323057	0.34725	N	0.003731	T	0.05868	0.0153	N	0.11427	0.14	0.20764	N	0.999851	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40098	-0.9581	10	0.02654	T	1	-12.3506	15.1059	0.72322	0.0:0.7268:0.2732:0.0	.	24;24	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	K	24	ENSP00000358451:Q24K;ENSP00000358450:Q24K	ENSP00000358450:Q24K	Q	-	1	0	GDAP2	118264434	1.000000	0.71417	0.406000	0.26421	0.315000	0.28087	3.018000	0.49625	0.869000	0.35703	-0.153000	0.13522	CAA	-	NULL		0.413	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	protein_coding	OTTHUMT00000033732.2	G	NM_017686	-		118462911	-1	no_errors	ENST00000369443	ensembl	human	known	74_37	missense	SNP	0.779	T	T	118462911	G	T	118462911	3	4	18	1	0	0	0	0	1	0	0	0	6311	1357	47	3	1520	3	GDAP2	1	118462911	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	28942472	118462911	130787710	6	1193											
NUDT17	200035	genome.wustl.edu	37	chr1	145588455	145588455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaaagttctcgaaGccctccgtccagcagctggg	9	17	1	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:145588455G>T	ENST00000334513.5	-	4	429	c.418C>A	c.(418-420)Ctt>Att	p.L140I	NUDT17_ENST00000444015.2_5'UTR	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	140	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTTCTCGAAGCCCTCCGTCC	0.587											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000186364						65	66	66					1																	145588455		2203	4300	6503	NUDT17	SO:0001583	missense	0			-	HGNC	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"Nudix motif containing"	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.418C>A	1.37:g.145588455G>T	ENSP00000334437:p.Leu140Ile	Somatic	0	53	0	1695	0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L140I	ENST00000334513.5	37	c.418	CCDS30830.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.624|9.624	1.134572|1.134572	0.21123|0.21123	.|.	.|.	ENSG00000186364|ENSG00000186364	ENST00000444015|ENST00000334513	.|T	.|0.08546	.|3.08	4.27|4.27	2.34|2.34	0.29019|0.29019	.|NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	.|0.076921	.|0.51477	.|D	.|0.000096	T|T	0.03520|0.03520	0.0101|0.0101	N|N	0.21194|0.21194	0.64|0.64	0.09310|0.09310	N|N	1|1	.|D	.|0.57257	.|0.979	.|P	.|0.53689	.|0.732	T|T	0.35549|0.35549	-0.9784|-0.9784	5|10	.|0.46703	.|T	.|0.11	-3.0538|-3.0538	6.9616|6.9616	0.24599|0.24599	0.2176:0.0:0.7824:0.0|0.2176:0.0:0.7824:0.0	.|.	.|140	.|P0C025	.|NUD17_HUMAN	D|I	33|140	.|ENSP00000334437:L140I	.|ENSP00000334437:L140I	A|L	-|-	2|1	0|0	NUDT17|NUDT17	144299812|144299812	0.996000|0.996000	0.38824|0.38824	0.036000|0.036000	0.18154|0.18154	0.005000|0.005000	0.04900|0.04900	3.997000|3.997000	0.57016|0.57016	0.412000|0.412000	0.25729|0.25729	-0.140000|-0.140000	0.14226|0.14226	GCT|CTT	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.587	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT17	protein_coding	OTTHUMT00000038541.3	G	XM_496395	-		145588455	-1	no_errors	ENST00000334513	ensembl	human	known	74_37	missense	SNP	0.064	T	T	145588455	G	T	145588455	3	4	18	1	0	0	0	0	1	0	0	0	10736	971	34	3	588	3	NUDT17	1	145588455	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	27125544	145588455	103662166	7	1194											
HAX1	10456	genome.wustl.edu	37	chr1	154245819	154245819	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctccactctcagccacagaGatcccttttttggagggatg	9	13	1	1	rs541476988		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:154245819G>T	ENST00000328703.7	+	2	274	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	HAX1_ENST00000483970.2_Missense_Mutation_p.D21Y|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	21	Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|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 from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCCACAGAGATCCCTTTTT	0.498									Kostmann syndrome																																								0								ENSG00000143575						71	71	71					1																	154245819		2203	4300	6503	HAX1	SO:0001583	missense	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	-	HGNC	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.61G>T	1.37:g.154245819G>T	ENSP00000329002:p.Asp21Tyr	Somatic	0	41	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP							pirsf_HS1--assoc_X-1	p.D21Y	ENST00000328703.7	37	c.61	CCDS1064.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402139	0.83230	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.46063	0.88;0.88;0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65709	-0.6102	10	0.87932	D	0	-18.0087	16.6433	0.85138	0.0:0.0:1.0:0.0	.	21;21	O00165-2;O00165	.;HAX1_HUMAN	Y	21	ENSP00000329002:D21Y;ENSP00000435088:D21Y;ENSP00000394920:D21Y	ENSP00000329002:D21Y	D	+	1	0	HAX1	152512443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.910000	0.63321	2.776000	0.95493	0.655000	0.94253	GAT	-	pirsf_HS1--assoc_X-1		0.498	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	protein_coding	OTTHUMT00000087650.1	G	NM_006118	-		154245819	1	no_errors	ENST00000483970	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154245819	G	T	154245819	3	4	18	1	0	0	0	0	1	0	0	0	6977	942	33	3	67	3	HAX1	1	154245819	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	8657364	154245819	95004802	8	1195											
OBSCN	84033	genome.wustl.edu	37	chr1	228466604	228466604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagaggacgaggacacCtacacctgtgacgccggtga	13	13	0	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:228466604C>T	ENST00000422127.1	+	26	7118	c.7074C>T	c.(7072-7074)acC>acT	p.T2358T	OBSCN_ENST00000284548.11_Silent_p.T2358T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Silent_p.T2787T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.T1205T|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2358	Ig-like 23.				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)				ACGAGGACACCTACACCTGTG	0.597																																																	0								ENSG00000154358						64	67	66					1																	228466604		2170	4255	6425	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.7074C>T	1.37:g.228466604C>T		Somatic	0	64	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T2358	ENST00000422127.1	37	c.7074	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228466604	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.286	T	T	228466604	C	T	228466604	2	4	18	1	0	0	0	0	0	0	0	1	10814	668	24	2		2	OBSCN	1	228466604	Silent	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	74220785	228466604	20784017	9	1196											
LCT	3938	genome.wustl.edu	37	chr2	136594389	136594389	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgtgcagtcttgagggccttGaggagtcgccggtagcactg	16	10	1	2	rs200862944		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:136594389G>T	ENST00000264162.2	-	1	361	c.351C>A	c.(349-351)ctC>ctA	p.L117L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	117	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGAGGGCCTTGAGGAGTCGCC	0.577																																																	0								ENSG00000115850						94	85	88					2																	136594389		2203	4300	6503	LCT	SO:0001819	synonymous_variant	0			-	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.351C>A	2.37:g.136594389G>T		Somatic	0	81	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q4ZG58	Silent	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L117	ENST00000264162.2	37	c.351	CCDS2178.1	2																																																																																			-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	G	NM_002299	-		136594389	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	SNP	0.000	T	T	136594389	G	T	136594389	2	4	18	1	0	0	0	0	0	0	0	1	8695	1277	45	3		3	LCT	2	136594389	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		136594389	106604984	10	1197											
NEB	4703	genome.wustl.edu	37	chr2	152375544	152375544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactccttcatgtcagtcaCgggtttgtgaagtttcttca	9	9	5	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:152375544C>T	ENST00000172853.10	-	127	17674	c.17527G>A	c.(17527-17529)Gtg>Atg	p.V5843M	NEB_ENST00000603639.1_Missense_Mutation_p.V7544M|NEB_ENST00000409198.1_Missense_Mutation_p.V5843M|NEB_ENST00000604864.1_Missense_Mutation_p.V7544M|NEB_ENST00000397345.3_Missense_Mutation_p.V7544M|NEB_ENST00000427231.2_Missense_Mutation_p.V7544M			P20929	NEBU_HUMAN	nebulin	5843					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)		ATGTCAGTCACGGGTTTGTGA	0.423																																																	0								ENSG00000183091						149	138	141					2																	152375544		1897	4110	6007	NEB	SO:0001583	missense	0			-	HGNC	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.17527G>A	2.37:g.152375544C>T	ENSP00000172853:p.Val5843Met	Somatic	0	56	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.V7544M	ENST00000172853.10	37	c.22630		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773136	0.90108	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08807	3.17;3.17;3.17;3.05;3.17	6.03	5.13	0.70059	.	0.110139	0.64402	D	0.000009	T	0.29976	0.0750	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.91635	0.999;0.999;0.903	T	0.02766	-1.1113	10	0.38643	T	0.18	.	17.2168	0.86946	0.0:0.8741:0.1259:0.0	.	5843;7544;2274	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	M	5843;7544;7544;1892;2274;5843	ENSP00000386259:V5843M;ENSP00000380505:V7544M;ENSP00000416578:V7544M;ENSP00000410961:V2274M;ENSP00000172853:V5843M	ENSP00000172853:V5843M	V	-	1	0	NEB	152083790	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	1.509000	0.48786	0.655000	0.94253	GTG	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152375544	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152375544	C	T	152375544	3	4	18	1	0	0	0	0	1	0	0	0	10304	536	19	1	3059	1	NEB	2	152375544	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	15781155	152375544	90823829	11	1198											
DLX1	1745	genome.wustl.edu	37	chr2	172950416	172950416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgagaagagatgaccatgaCcaccatgccagaaagtctca	10	11	1	5			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:172950416C>G	ENST00000361725.4	+	1	463	c.11C>G	c.(10-12)aCc>aGc	p.T4S	DLX1_ENST00000341900.6_Missense_Mutation_p.T4S	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	4					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATGACCATGACCACCATGCCA	0.557																																																	0								ENSG00000144355						121	129	126					2																	172950416		2203	4300	6503	DLX1	SO:0001583	missense	0			-	HGNC	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"Homeoboxes / ANTP class : NKL subclass"	2914	protein-coding gene	gene with protein product		600029	"distal-less homeo box 1"			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.11C>G	2.37:g.172950416C>G	ENSP00000354478:p.Thr4Ser	Somatic	0	75	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.T4S	ENST00000361725.4	37	c.11	CCDS2247.2	2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694032	0.48202	.	.	ENSG00000144355	ENST00000361609;ENST00000469444;ENST00000361725;ENST00000341900	D;D;D	0.95853	-3.83;-3.29;-3.02	5.59	5.59	0.84812	.	0.106857	0.64402	D	0.000005	D	0.96272	0.8784	L	0.37630	1.12	0.80722	D	1	B;D;B	0.56035	0.089;0.974;0.017	B;D;B	0.70487	0.17;0.969;0.007	D	0.95223	0.8335	10	0.32370	T	0.25	-22.3618	19.6027	0.95569	0.0:1.0:0.0:0.0	.	4;4;4	F8VXJ2;Q7Z724;P56177	.;.;DLX1_HUMAN	S	4	ENSP00000354865:T4S;ENSP00000448827:T4S;ENSP00000354478:T4S	ENSP00000341786:T4S	T	+	2	0	DLX1	172658662	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.638000	0.89438	0.460000	0.39030	ACC	-	NULL		0.557	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX1	protein_coding	OTTHUMT00000405916.1	C	XM_087198	-		172950416	1	no_errors	ENST00000361725	ensembl	human	known	74_37	missense	SNP	1.000	G	G	172950416	C	G	172950416	3	3	18	1	0	0	0	0	1	0	0	0	4572	507	18	4	13	4	DLX1	2	172950416	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	20574872	172950416	70248957	12	1199											
PDE11A	50940	genome.wustl.edu	37	chr2	178592479	178592479	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcctcactgtcaaaagCcacctacacagtgtctgaaa	5	12	3	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:178592479C>T	ENST00000286063.6	-	12	2267	c.1950G>A	c.(1948-1950)tgG>tgA	p.W650*	PDE11A_ENST00000409504.1_Nonsense_Mutation_p.W292*|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Nonsense_Mutation_p.W206*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.W400*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.W292*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	650	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGTCAAAAGCCACCTACACA	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0								ENSG00000128655						145	126	133					2																	178592479		2203	4300	6503	PDE11A	SO:0001587	stop_gained	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	-	HGNC	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1950G>A	2.37:g.178592479C>T	ENSP00000286063:p.Trp650*	Somatic	0	79	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Nonsense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.W650*	ENST00000286063.6	37	c.1950	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.714517|5.714517	0.96830|0.96830	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48205|.	0.1487|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37502|.	-0.9703|.	4|.	.|0.02654	.|T	.|1	.|.	19.773|19.773	0.96379|0.96379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	258|650;400;292;206;292	.|.	.|ENSP00000286063:W650X	G|W	-|-	2|3	0|0	PDE11A|PDE11A	178300725|178300725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.484000|7.484000	0.81180|0.81180	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	GGC|TGG	-	NULL		0.468	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	protein_coding	OTTHUMT00000334313.2	C		-		178592479	-1	no_errors	ENST00000286063	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	178592479	C	T	178592479	4	4	18	1	0	0	0	0	0	1	0	0	11633	740	26	2	887	2	PDE11A	2	178592479	Nonsense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	5642063	178592479	64606894	13	1200											
NBEAL1	65065	genome.wustl.edu	37	chr2	203972519	203972519	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtgtcaatgcaaacatgggGattagaatcattgaaaccct	9	7	2	2	rs148705424	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:203972519G>T	ENST00000449802.1	+	13	1803	c.1470G>T	c.(1468-1470)ggG>ggT	p.G490G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	490										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						CAAACATGGGGATTAGAATCA	0.408																																																	0								ENSG00000144426						196	158	170					2																	203972519		692	1591	2283	NBEAL1	SO:0001819	synonymous_variant	0			-	HGNC	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.1470G>T	2.37:g.203972519G>T		Somatic	0	89	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G490	ENST00000449802.1	37	c.1470	CCDS46495.1	2																																																																																			-	superfamily_ARM-type_fold		0.408	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	protein_coding	OTTHUMT00000333982.4	G		-		203972519	1	no_errors	ENST00000449802	ensembl	human	known	74_37	silent	SNP	0.910	T	T	203972519	G	T	203972519	2	4	18	1	0	0	0	0	0	0	0	1	10190	1161	41	3		3	NBEAL1	2	203972519	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	25380040	203972519	39226854	14	1201											
COL4A4	1286	genome.wustl.edu	37	chr2	227872807	227872807	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggactggtcctggctgTgcaccgccaccgcctgggcc	15	15	0	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:227872807T>C	ENST00000396625.3	-	47	4943	c.4736A>G	c.(4735-4737)cAc>cGc	p.H1579R	COL4A4_ENST00000329662.7_Missense_Mutation_p.H1576R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1579	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTCCTGGCTGTGCACCGCCAC	0.652																																																	0								ENSG00000081052						27	32	30					2																	227872807		1981	4154	6135	COL4A4	SO:0001583	missense	0			-	HGNC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4736A>G	2.37:g.227872807T>C	ENSP00000379866:p.His1579Arg	Somatic	0	84	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.H1579R	ENST00000396625.3	37	c.4736	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162281	0.78226	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94497	-3.44;-3.44	5.91	5.91	0.95273	C-type lectin fold (1);	.	.	.	.	D	0.98289	0.9433	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99402	1.0928	9	0.62326	D	0.03	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1579	P53420	CO4A4_HUMAN	R	1579;1576	ENSP00000379866:H1579R;ENSP00000328553:H1576R	ENSP00000328553:H1576R	H	-	2	0	COL4A4	227581051	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	8.035000	0.88872	2.254000	0.74563	0.533000	0.62120	CAC	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.652	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	T	NM_000092	-		227872807	-1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	SNP	1.000	C	C	227872807	T	C	227872807	3	2	18	1	0	0	0	0	1	0	0	0	3695	1696	59	5	344	5	COL4A4	2	227872807	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	23900288	227872807	15326566	15	1202											
DNER	92737	genome.wustl.edu	37	chr2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-													caaatgcagaggtagccatcGctgctgctgctgctgctgct					rs376000556	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																																	0								ENSG00000187957																																			DNER	SO:0001651	inframe_deletion	0				HGNC	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del	Somatic	0	40	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL							pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	protein_coding	OTTHUMT00000331902.1	GCT	NM_139072			230456535	-1	no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	DEL	0.003:0.004:0.006	-	-	230456535	GCT	-	230456533	7	5	18	1	0	1	0	1	0	0	0	0	4669	1078	38	0	1913	0	DNER	2	230456533	In_Frame_Del	DEL	GCT	TCGA-3R-A8YX-01A-11D-A37C-09	2583726	230456533	12742840	16	1203											
KCNH8	131096	genome.wustl.edu	37	chr3	19492831	19492831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggggatgctttgcaggCcatctactttgtatgctcgg	12	9	2	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:19492831C>T	ENST00000328405.2	+	10	2026	c.1760C>T	c.(1759-1761)gCc>gTc	p.A587V	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	587					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						GCTTTGCAGGCCATCTACTTT	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						89	91	90					3																	19492831		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	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.1760C>T	3.37:g.19492831C>T	ENSP00000328813:p.Ala587Val	Somatic	0	63	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	B7Z2I7|Q59GQ6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.A587V	ENST00000328405.2	37	c.1760	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.653038	0.96724	.	.	ENSG00000183960	ENST00000328405	D	0.92699	-3.09	5.68	5.68	0.88126	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.31392	U	0.007734	D	0.96185	0.8756	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95571	0.8638	9	.	.	.	.	19.7897	0.96452	0.0:1.0:0.0:0.0	.	587	Q96L42	KCNH8_HUMAN	V	587	ENSP00000328813:A587V	.	A	+	2	0	KCNH8	19467835	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	GCC	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	C	NM_144633	-		19492831	1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19492831	C	T	19492831	3	4	18	1	0	0	0	0	1	0	0	0	8040	739	26	2	1798	2	KCNH8	3	19492831	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		19492831	178529599	17	1204											
CRTAP	10491	genome.wustl.edu	37	chr3	33171441	33171441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcagatcattatgtAgaagttctggaatgcaaaat	8	4	3	2	rs137853945		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:33171441A>G	ENST00000320954.6	+	4	903	c.804A>G	c.(802-804)gtA>gtG	p.V268V	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	268					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ATCATTATGTAGAAGTTCTGG	0.373																																																	0								ENSG00000170275						130	128	128					3																	33171441		2203	4300	6503	CRTAP	SO:0001819	synonymous_variant	0			-	HGNC	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.804A>G	3.37:g.33171441A>G		Somatic	0	59	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2RBL6	Silent	SNP							NULL	p.V268	ENST00000320954.6	37	c.804	CCDS2657.1	3																																																																																			-	NULL		0.373	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	protein_coding	OTTHUMT00000253246.3	A		-		33171441	1	no_errors	ENST00000320954	ensembl	human	known	74_37	silent	SNP	0.013	G	G	33171441	A	G	33171441	2	3	18	1	0	0	0	0	0	0	0	1	3900	407	15	5		5	CRTAP	3	33171441	Silent	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	13678610	33171441	164850989	18	1205											
DOCK3	1795	genome.wustl.edu	37	chr3	51315040	51315040	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctgctcgctccaggAggcagatgtcatggaggaag	14	10	2	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:51315040A>T	ENST00000266037.9	+	26	2701	c.2678A>T	c.(2677-2679)gAg>gTg	p.E893V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	893					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCGCTCCAGGAGGCAGATGTC	0.547																																																	0								ENSG00000088538						66	65	66					3																	51315040		2136	4252	6388	DOCK3	SO:0001630	splice_region_variant	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2677-1A>T	3.37:g.51315040A>T		Somatic	0	42	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	O15017	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E893V	ENST00000266037.9	37	c.2678	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338643	0.60963	.	.	ENSG00000088538	ENST00000266037	T	0.66995	-0.24	5.36	5.36	0.76844	.	0.096565	0.64402	D	0.000001	T	0.63885	0.2549	M	0.68952	2.095	0.80722	D	1	B	0.28439	0.212	B	0.23275	0.045	T	0.61623	-0.7025	10	0.27082	T	0.32	.	15.6687	0.77255	1.0:0.0:0.0:0.0	.	893	Q8IZD9	DOCK3_HUMAN	V	893	ENSP00000266037:E893V	ENSP00000266037:E893V	E	+	2	0	DOCK3	51290080	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.109000	0.94291	2.176000	0.68965	0.477000	0.44152	GAG	-	superfamily_ARM-type_fold		0.547	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	A	NM_004947	-	Missense_Mutation	51315040	1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51315040	A	T	51315040	5	4	18	1	0	0	0	0	0	0	1	0	4690	318	11	5	2780	5	DOCK3	3	51315040	Splice_Site	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	18143599	51315040	146707390	19	1206											
CADPS	8618	genome.wustl.edu	37	chr3	62578348	62578348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaacgccaggacgccTgtgctctctgtgaacagctt	9	15	1	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:62578348T>C	ENST00000383710.4	-	7	1750	c.1401A>G	c.(1399-1401)acA>acG	p.T467T	CADPS_ENST00000357948.3_Silent_p.T467T|CADPS_ENST00000283269.9_Silent_p.T467T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	467	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)		CCAGGACGCCTGTGCTCTCTG	0.562																																																	0								ENSG00000163618						155	136	142					3																	62578348		2203	4300	6503	CADPS	SO:0001819	synonymous_variant	0			-	HGNC	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.1401A>G	3.37:g.62578348T>C		Somatic	0	53	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP							pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T467	ENST00000383710.4	37	c.1401	CCDS46858.1	3																																																																																			-	superfamily_C2_dom		0.562	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	T	NM_003716, NM_183393, NM_183394	-		62578348	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	silent	SNP	0.729	C	C	62578348	T	C	62578348	2	2	18	1	0	0	0	0	0	0	0	1	2572	1567	55	5		5	CADPS	3	62578348	Silent	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	11263308	62578348	135444082	20	1207											
MORC1	27136	genome.wustl.edu	37	chr3	108698399	108698399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcactgtttccttgaCaggtgtgctttgagaagacg	10	8	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:108698399C>G	ENST00000483760.1	-	23	2420	c.2377G>C	c.(2377-2379)Gtc>Ctc	p.V793L	MORC1_ENST00000232603.5_Missense_Mutation_p.V814L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTTCCTTGACAGGTGTGCTT	0.403																																																	0								ENSG00000114487						118	121	120					3																	108698399		2203	4300	6503	MORC1	SO:0001583	missense	0			-	HGNC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2377G>C	3.37:g.108698399C>G	ENSP00000417282:p.Val793Leu	Somatic	0	39	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00		Missense_Mutation	SNP							pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.V814L	ENST00000483760.1	37	c.2440		3	.	.	.	.	.	.	.	.	.	.	C	6.889	0.533432	0.13188	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08634	3.13;3.07	5.29	2.52	0.30459	.	1.066770	0.07389	N	0.888805	T	0.06142	0.0159	L	0.32530	0.975	0.09310	N	0.999991	P;P	0.37441	0.595;0.595	B;B	0.31016	0.123;0.123	T	0.41233	-0.9520	10	0.18276	T	0.48	-2.9732	7.3776	0.26837	0.0:0.7302:0.0:0.2698	.	793;814	E7ERX1;Q86VD1	.;MORC1_HUMAN	L	814;793	ENSP00000232603:V814L;ENSP00000417282:V793L	ENSP00000232603:V814L	V	-	1	0	MORC1	110181089	0.002000	0.14202	0.227000	0.23927	0.089000	0.18198	-0.258000	0.08733	0.374000	0.24650	0.655000	0.94253	GTC	-	NULL		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	C		-		108698399	-1	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	SNP	0.331	G	G	108698399	C	G	108698399	3	3	18	1	0	0	0	0	1	0	0	0	9703	478	17	4	534	4	MORC1	3	108698399	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	46120051	108698399	89324031	21	1208											
PLCH1	23007	genome.wustl.edu	37	chr3	155199795	155199795	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaattgaaacagagagtGggatcagctattacatcctc	9	9	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:155199795G>T	ENST00000340059.7	-	23	4043	c.4044C>A	c.(4042-4044)ccC>ccA	p.P1348P	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.P1310P|PLCH1_ENST00000334686.6_Silent_p.P1310P|PLCH1_ENST00000414191.1_Silent_p.P1310P|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1348					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACAGAGAGTGGGATCAGCTA	0.468																																																	0								ENSG00000114805						45	49	48					3																	155199795		2203	4300	6503	PLCH1	SO:0001819	synonymous_variant	0			-	HGNC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4044C>A	3.37:g.155199795G>T		Somatic	0	41	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.P1348	ENST00000340059.7	37	c.4044	CCDS46939.1	3																																																																																			-	NULL		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	G	NM_014996	-		155199795	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	silent	SNP	0.000	T	T	155199795	G	T	155199795	2	4	18	1	0	0	0	0	0	0	0	1	12039	1335	47	3		3	PLCH1	3	155199795	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	46501396	155199795	42822635	22	1209											
C3orf55	152078	genome.wustl.edu	37	chr3	157318113	157318113	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagcatgcctgggtattaCagttgtttatgccatactac	8	8	0	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:157318113C>T	ENST00000449199.2	+	0	575				C3orf55_ENST00000426338.2_Silent_p.Y115Y|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			CTGGGTATTACAGTTGTTTAT	0.343																																																	0								ENSG00000174899						95	84	87					3																	157318113		692	1591	2283	C3orf55	SO:0001624	3_prime_UTR_variant	0			-	HGNC																												ENST00000449199.2:c.*26C>T	3.37:g.157318113C>T		Somatic	0	64	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	29	50.00	C9JP04|C9JXB5|Q8N6Q6	Silent	SNP							NULL	p.Y115	ENST00000449199.2	37	c.345	CCDS46943.1	3																																																																																			-	NULL		0.343	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	protein_coding	OTTHUMT00000352018.1	C		-		157318113	1	no_errors	ENST00000426338	ensembl	human	known	74_37	silent	SNP	0.000	T	T	157318113	C	T	157318113	1	4	18	0	1	0	0	0	0	0	0	0	2236	489	17	2		2	C3orf55	3	157318113	3'UTR	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	2118318	157318113	40704317	23	1210											
GFM1	85476	genome.wustl.edu	37	chr3	158408940	158408940	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttcaggtccctctaaatGatatgtttggttattccact	7	8	2	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:158408940G>T	ENST00000486715.1	+	17	2440	c.2083G>T	c.(2083-2085)Gat>Tat	p.D695Y	RP11-379F4.7_ENST00000607624.1_lincRNA|GFM1_ENST00000264263.5_Missense_Mutation_p.D714Y	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCCTCTAAATGATATGTTTGG	0.328																																																	0								ENSG00000168827						135	131	133					3																	158408940		2203	4300	6503	GFM1	SO:0001583	missense	0			-	HGNC	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2083G>T	3.37:g.158408940G>T	ENSP00000419038:p.Asp695Tyr	Somatic	0	38	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68		Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.D695Y	ENST00000486715.1	37	c.2083	CCDS33885.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.328788|2.328788	0.41197|0.41197	.|.	.|.	ENSG00000168827|ENSG00000168827	ENST00000486715;ENST00000264263|ENST00000472383	T;T|.	0.63913|.	-0.07;-0.07|.	5.76|5.76	0.938|0.938	0.19500|0.19500	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);|.	0.322146|.	0.32258|.	N|.	0.006355|.	T|T	0.69851|0.69851	0.3157|0.3157	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.986|.	P;D|.	0.66351|.	0.905;0.943|.	T|T	0.66097|0.66097	-0.6008|-0.6008	10|5	0.87932|.	D|.	0|.	-28.2091|-28.2091	10.2191|10.2191	0.43186|0.43186	0.3835:0.0:0.6165:0.0|0.3835:0.0:0.6165:0.0	.|.	714;695|.	Q96RP9-2;Q96RP9|.	.;EFGM_HUMAN|.	Y|I	695;714|17	ENSP00000419038:D695Y;ENSP00000264263:D714Y|.	ENSP00000264263:D714Y|.	D|M	+|+	1|3	0|0	GFM1|GFM1	159891634|159891634	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.997000|0.997000	0.91878|0.91878	2.119000|2.119000	0.41958|0.41958	-0.109000|-0.109000	0.12044|0.12044	0.655000|0.655000	0.94253|0.94253	GAT|ATG	-	pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V,tigrfam_Transl_elong_EFG/EF2		0.328	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	protein_coding	OTTHUMT00000352271.1	G	NM_024996	-		158408940	1	no_errors	ENST00000486715	ensembl	human	known	74_37	missense	SNP	0.994	T	T	158408940	G	T	158408940	3	4	18	1	0	0	0	0	1	0	0	0	6343	1290	45	3	2149	3	GFM1	3	158408940	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	1090827	158408940	39613490	24	1211											
ATP13A4	84239	genome.wustl.edu	37	chr3	193130047	193130047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagttgattgttcccaagAaccagactgtagtgttctca	8	9	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:193130047A>C	ENST00000342695.4	-	27	3450	c.3128T>G	c.(3127-3129)tTc>tGc	p.F1043C	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.F1024C|ATP13A4_ENST00000400270.2_Missense_Mutation_p.F59C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1043						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTTCCCAAGAACCAGACTGT	0.393																																																	0								ENSG00000127249						242	234	237					3																	193130047		2203	4300	6503	ATP13A4	SO:0001583	missense	0			-	HGNC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3128T>G	3.37:g.193130047A>C	ENSP00000339182:p.Phe1043Cys	Somatic	0	65	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.F1043C	ENST00000342695.4	37	c.3128	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027122	0.75390	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	D;D;D	0.92595	-3.07;-3.07;-3.07	5.7	5.7	0.88788	.	0.087250	0.49916	D	0.000128	D	0.92028	0.7474	L	0.33485	1.01	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	D	0.91407	0.5148	10	0.37606	T	0.19	-24.6051	13.9317	0.64001	1.0:0.0:0.0:0.0	.	1043	Q4VNC1	AT134_HUMAN	C	59;1024;1043	ENSP00000383129:F59C;ENSP00000376238:F1024C;ENSP00000339182:F1043C	ENSP00000339182:F1043C	F	-	2	0	ATP13A4	194612741	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.084000	0.50143	2.185000	0.69588	0.528000	0.53228	TTC	-	tigrfam_ATPase_P-typ_Cation_typ_V		0.393	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	protein_coding	OTTHUMT00000157244.4	A	NM_032279	-		193130047	-1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	SNP	1.000	C	C	193130047	A	C	193130047	3	2	18	1	0	0	0	0	1	0	0	0	1126	246	9	5	478	5	ATP13A4	3	193130047	Missense_Mutation	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	34721107	193130047	4892383	25	1212											
TMEM165	55858	genome.wustl.edu	37	chr4	56291555	56291555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttccagtgacaatcatagGaggcatcgtttttttggcgt	10	8	2	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:56291555G>T	ENST00000381334.5	+	6	1144	c.911G>T	c.(910-912)gGa>gTa	p.G304V	TMEM165_ENST00000506198.1_Missense_Mutation_p.G109V|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.G241V	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	304			G -> R (in CDG2K; accumulates in Golgi compartment). {ECO:0000269|PubMed:22683087}.		cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			ACAATCATAGGAGGCATCGTT	0.358																																																	0								ENSG00000134851						219	205	210					4																	56291555		2203	4299	6502	TMEM165	SO:0001583	missense	0			-	HGNC	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.911G>T	4.37:g.56291555G>T	ENSP00000370736:p.Gly304Val	Somatic	0	75	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP							pfam_UPF0016	p.G304V	ENST00000381334.5	37	c.911	CCDS3499.1	4	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873773	0.72180	.	.	ENSG00000134851	ENST00000381334;ENST00000506198;ENST00000542052	D;D;D	0.82081	-1.57;-1.57;-1.57	5.26	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93696	0.7011	10	0.72032	D	0.01	-20.78	15.9438	0.79779	0.0:0.1356:0.8644:0.0	.	241;304	B4DHW1;Q9HC07	.;TM165_HUMAN	V	304;109;241	ENSP00000370736:G304V;ENSP00000425449:G109V;ENSP00000437816:G241V	ENSP00000370736:G304V	G	+	2	0	TMEM165	55986312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.471000	0.90403	1.304000	0.44892	0.557000	0.71058	GGA	-	pfam_UPF0016		0.358	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	protein_coding	OTTHUMT00000250646.4	G	NM_018475	-		56291555	1	no_errors	ENST00000381334	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56291555	G	T	56291555	3	4	18	1	0	0	0	0	1	0	0	0	16087	1174	41	3	933	3	TMEM165	4	56291555	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		56291555	134862721	26	1213											
ADH6	130	genome.wustl.edu	37	chr4	100131256	100131256	+	Frame_Shift_Del	DEL	C	C	-													caccttggcagtattgattgCagcaccaaacccagtggaaa							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:100131256delC	ENST00000237653.7	-	5	934	c.550delG	c.(550-552)gcafs	p.A184fs	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Frame_Shift_Del_p.A184fs|ADH6_ENST00000394899.2_Frame_Shift_Del_p.A184fs	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	184					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GTATTGATTGCAGCACCAAAC	0.438																																																	0								ENSG00000172955						104	99	101					4																	100131256		2203	4300	6503	ADH6	SO:0001589	frameshift_variant	0				HGNC	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.550delG	4.37:g.100131256delC	ENSP00000237653:p.Ala184fs	Somatic	0	45	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B3KS45|Q58F53	Frame_Shift_Del	DEL							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.A184fs	ENST00000237653.7	37	c.550	CCDS3647.1	4																																																																																			-	superfamily_GroES-like,smart_PKS_ER		0.438	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	protein_coding	OTTHUMT00000253665.1	C	NM_000672			100131256	-1	no_errors	ENST00000394899	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	100131256	C	-	100131256	7	5	18	1	0	1	0	1	0	0	0	0	312	710	25	0	601	0	ADH6	4	100131256	Frame_Shift_Del	DEL	C	TCGA-3R-A8YX-01A-11D-A37C-09	43839701	100131256	91023020	27	1214											
CENPE	1062	genome.wustl.edu	37	chr4	104070553	104070553	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagttgttgctgtttttcttGgagttgctggctcttaaaat	10	5	2	0	rs75617708		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:104070553G>C	ENST00000265148.3	-	27	3498	c.3409C>G	c.(3409-3411)Caa>Gaa	p.Q1137E	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1112E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1137					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTTCTTGGAGTTGCTGG	0.294																																																	0								ENSG00000138778						41	40	40					4																	104070553		2202	4289	6491	CENPE	SO:0001583	missense	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3409C>G	4.37:g.104070553G>C	ENSP00000265148:p.Gln1137Glu	Somatic	0	49	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1137E	ENST00000265148.3	37	c.3409	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872614	0.17322	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.68624	-0.34;-0.34	4.0	2.16	0.27623	.	.	.	.	.	T	0.59101	0.2169	L	0.60455	1.87	0.33166	D	0.547603	B;P	0.39391	0.041;0.671	B;B	0.38712	0.019;0.28	T	0.61734	-0.7002	9	0.20519	T	0.43	.	10.1788	0.42955	0.0:0.368:0.632:0.0	.	1112;1137	Q02224-3;Q02224	.;CENPE_HUMAN	E	1137;1137;1112	ENSP00000265148:Q1137E;ENSP00000369365:Q1112E	ENSP00000265148:Q1137E	Q	-	1	0	CENPE	104290002	0.156000	0.22821	0.992000	0.48379	0.997000	0.91878	0.751000	0.26348	0.399000	0.25367	0.591000	0.81541	CAA	-	NULL		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		G		-		104070553	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	SNP	0.998	C	C	104070553	G	C	104070553	3	2	18	1	0	0	0	0	1	0	0	0	3232	1357	47	4	4788	4	CENPE	4	104070553	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	3939297	104070553	87083723	28	1215											
PCDH18	54510	genome.wustl.edu	37	chr4	138452253	138452253	+	Frame_Shift_Del	DEL	A	A	-													tgggctgggattgaatttggAcccaaatcttgagcctgaac							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:138452253delA	ENST00000344876.4	-	1	1376	c.990delT	c.(988-990)ggtfs	p.G330fs	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Frame_Shift_Del_p.G110fs|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Frame_Shift_Del_p.G330fs	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	330	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAATTTGGACCCAAATCTT	0.353																																																	0								ENSG00000189184						28	32	31					4																	138452253		2185	4297	6482	PCDH18	SO:0001589	frameshift_variant	0				HGNC	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.990delT	4.37:g.138452253delA	ENSP00000355082:p.Gly330fs	Somatic	0	61	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K7K3|B7ZKT1|Q52LS2	Frame_Shift_Del	DEL							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P331fs	ENST00000344876.4	37	c.990	CCDS34064.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	protein_coding	OTTHUMT00000364614.1	A	NM_019035			138452253	-1	no_errors	ENST00000344876	ensembl	human	known	74_37	frame_shift_del	DEL	0.975	-	-	138452253	A	-	138452253	7	5	18	1	0	1	0	1	0	0	0	0	11515	262	10	0	2433	0	PCDH18	4	138452253	Frame_Shift_Del	DEL	A	TCGA-3R-A8YX-01A-11D-A37C-09	34381700	138452253	52702023	29	1216											
SORBS2	8470	genome.wustl.edu	37	chr4	186544640	186544642	+	In_Frame_Del	DEL	TGG	TGG	-													ggtggtggtggtggtggtgaTggtggtggtggtggctggat							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	TGG	TGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:186544640_186544642delTGG	ENST00000284776.7	-	13	2438_2440	c.1929_1931delCCA	c.(1927-1932)caccat>cat	p.643_644HH>H	SORBS2_ENST00000418609.1_In_Frame_Del_p.547_548HH>H|SORBS2_ENST00000431808.1_In_Frame_Del_p.643_644HH>H|SORBS2_ENST00000355634.5_In_Frame_Del_p.743_744HH>H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	643	His-rich.				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)		gtggtggtgatggtggtggtggt	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)												0								ENSG00000154556																																			SORBS2	SO:0001651	inframe_deletion	0				HGNC		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.1929_1931delCCA	4.37:g.186544649_186544651delTGG	ENSP00000284776:p.His650del	Somatic	0	33	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL							pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.H647in_frame_del	ENST00000284776.7	37	c.1931_1929	CCDS3845.1	4																																																																																			-	NULL		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	TGG	NM_003603			186544642	-1	no_errors	ENST00000284776	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.997	-	-	186544642	TGG	-	186544640	7	5	18	1	0	1	0	1	0	0	0	0	14936	1464	51	0	1407	0	SORBS2	4	186544640	In_Frame_Del	DEL	TGG	TCGA-3R-A8YX-01A-11D-A37C-09	48092387	186544640	4609636	30	1217											
F11	2160	genome.wustl.edu	37	chr4	187201259	187201259	+	Frame_Shift_Del	DEL	C	C	-													ggtttcagtctacaaagctgCaggcacagcatcccaggtaa							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:187201259delC	ENST00000403665.2	+	8	1201	c.849delC	c.(847-849)tgcfs	p.C283fs	F11_ENST00000264692.4_Frame_Shift_Del_p.C231fs	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	283	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TACAAAGCTGCAGGCACAGCA	0.478																																																	0								ENSG00000088926						74	75	75					4																	187201259		2203	4300	6503	F11	SO:0001589	frameshift_variant	0				HGNC	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.849delC	4.37:g.187201259delC	ENSP00000384957:p.Cys283fs	Somatic	0	55	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	D3DP64|Q4W5C2|Q9Y495	Frame_Shift_Del	DEL							pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.C283fs	ENST00000403665.2	37	c.849	CCDS3847.1	4																																																																																			-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple		0.478	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	protein_coding	OTTHUMT00000317519.4	C				187201259	1	no_errors	ENST00000403665	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	187201259	C	-	187201259	7	5	18	1	0	1	0	1	0	0	0	0	5339	718	25	0	875	0	F11	4	187201259	Frame_Shift_Del	DEL	C	TCGA-3R-A8YX-01A-11D-A37C-09	656619	187201259	3953017	31	1218											
MTMR12	54545	genome.wustl.edu	37	chr5	32312936	32312936	+	Frame_Shift_Del	DEL	C	C	-													ccaccgccgactactcctttCcccagcataccgccgccctg							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:32312936delC	ENST00000382142.3	-	1	179	c.9delG	c.(7-9)gggfs	p.G3fs	MTMR12_ENST00000264934.5_Frame_Shift_Del_p.G3fs|MTMR12_ENST00000280285.5_Frame_Shift_Del_p.G3fs	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	3						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTACTCCTTTCCCCAGCATAC	0.746																																																	0								ENSG00000150712						20	21	21					5																	32312936		2158	4239	6397	MTMR12	SO:0001589	frameshift_variant	0				HGNC	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.9delG	5.37:g.32312936delC	ENSP00000371577:p.Gly3fs	Somatic	0	19	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Frame_Shift_Del	DEL							pfam_Myotubularin_assoc	p.G5fs	ENST00000382142.3	37	c.9	CCDS34138.1	5																																																																																			-	NULL		0.746	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	protein_coding	OTTHUMT00000366579.1	C	NM_019061			32312936	-1	no_errors	ENST00000382142	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	32312936	C	-	32312936	7	5	18	1	0	1	0	1	0	0	0	0	9943	842	30	0	2298	0	MTMR12	5	32312936	Frame_Shift_Del	DEL	C	TCGA-3R-A8YX-01A-11D-A37C-09		32312936	148602324	32	1219											
ELOVL7	79993	genome.wustl.edu	37	chr5	60062402	60062402	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggccatatactcaccGtatctaatagctcaataaat	7	9	3	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:60062402G>A	ENST00000508821.1	-	6	706	c.392C>T	c.(391-393)aCg>aTg	p.T131M	ELOVL7_ENST00000505959.1_Splice_Site_p.T118M|ELOVL7_ENST00000438340.1_Splice_Site_p.T131M|ELOVL7_ENST00000425382.1_Splice_Site_p.T131M	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	131					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TATACTCACCGTATCTAATAG	0.328																																																	0								ENSG00000164181						95	94	94					5																	60062402		2203	4300	6503	ELOVL7	SO:0001630	splice_region_variant	0			-	HGNC	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.393+1C>T	5.37:g.60062402G>A		Somatic	0	72	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP							pfam_GNS1_SUR4	p.T131M	ENST00000508821.1	37	c.392	CCDS34164.1	5	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177419	0.57692	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.44	4.56	0.56223	.	0.049642	0.85682	D	0.000000	D	0.86314	0.5903	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92228	0.5790	10	0.87932	D	0	-9.7281	14.8024	0.69926	0.0:0.0:0.855:0.145	.	118;131	D6RHD0;A1L3X0	.;ELOV7_HUMAN	M	131;131;131;118;131;131	ENSP00000424123:T131M;ENSP00000411255:T131M;ENSP00000402634:T131M;ENSP00000421043:T118M;ENSP00000426400:T131M;ENSP00000424081:T131M	ENSP00000402634:T131M	T	-	2	0	ELOVL7	60098159	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	8.758000	0.91663	1.512000	0.48834	-0.188000	0.12872	ACG	-	pfam_GNS1_SUR4		0.328	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL7	protein_coding	OTTHUMT00000368195.1	G		-	Missense_Mutation	60062402	-1	no_errors	ENST00000425382	ensembl	human	known	74_37	missense	SNP	1.000	A	A	60062402	G	A	60062402	5	1	18	1	0	0	0	0	0	0	1	0	5081	1159	40	1	469	1	ELOVL7	5	60062402	Splice_Site	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	27749466	60062402	120852858	33	1220											
MARVELD2	153562	genome.wustl.edu	37	chr5	68716207	68716207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttaatacaccagtgaatgCagtgttctgccgggtagaag	11	7	1	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:68716207C>A	ENST00000325631.5	+	2	1069	c.995C>A	c.(994-996)gCa>gAa	p.A332E	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	332	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCAGTGAATGCAGTGTTCTGC	0.428																																																	0								ENSG00000152939						83	67	72					5																	68716207		2203	4300	6503	MARVELD2	SO:0001583	missense	0			-	HGNC	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.995C>A	5.37:g.68716207C>A	ENSP00000323264:p.Ala332Glu	Somatic	0	50	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP							pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.A332E	ENST00000325631.5	37	c.995	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999127	0.54147	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803	T;T;T	0.25414	1.8;1.8;1.8	5.59	5.59	0.84812	Marvel (1);MARVEL-like domain (1);	0.104267	0.64402	D	0.000004	T	0.43055	0.1230	L	0.57536	1.79	0.80722	D	1	D;P;D	0.59357	0.985;0.719;0.975	P;B;P	0.54889	0.678;0.44;0.763	T	0.29852	-0.9998	10	0.87932	D	0	-8.8816	18.3685	0.90399	0.0:1.0:0.0:0.0	.	332;332;332	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	E	332	ENSP00000323264:A332E;ENSP00000396244:A332E;ENSP00000423490:A332E	ENSP00000282886:A332E	A	+	2	0	MARVELD2	68751963	1.000000	0.71417	0.044000	0.18714	0.331000	0.28603	3.918000	0.56432	2.639000	0.89480	0.655000	0.94253	GCA	-	pfam_Marvel		0.428	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	protein_coding	OTTHUMT00000369583.1	C	NM_144724	-		68716207	1	no_errors	ENST00000325631	ensembl	human	known	74_37	missense	SNP	0.841	A	A	68716207	C	A	68716207	3	1	18	1	0	0	0	0	1	0	0	0	9320	710	25	3	997	3	MARVELD2	5	68716207	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	8653805	68716207	112199053	34	1221											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503455	140503455	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaatggcgaggtgcgcacCgccaggctgctgagcgagcg	16	13	0	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:140503455C>A	ENST00000194152.1	+	1	1875	c.1875C>A	c.(1873-1875)acC>acA	p.T625T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	625	Cadherin 6. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.697																																																	0								ENSG00000081818						27	27	27					5																	140503455		1988	3984	5972	PCDHB4	SO:0001819	synonymous_variant	0			-	HGNC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1875C>A	5.37:g.140503455C>A		Somatic	0	185	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	110	15.38	Q4V761	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T625	ENST00000194152.1	37	c.1875	CCDS4246.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	C	NM_018938	-		140503455	1	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	SNP	0.002	A	A	140503455	C	A	140503455	2	1	18	1	0	0	0	0	0	0	0	1	11546	639	23	3		3	PCDHB4	5	140503455	Silent	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	71787248	140503455	40411805	35	1222											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559053	140559053	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgtcagcgccacagacagaGactcgggcaccaacgcccag	12	16	1	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:140559053G>C	ENST00000239444.2	+	1	1683	c.1438G>C	c.(1438-1440)Gac>Cac	p.D480H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	480	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(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACAGAGACTCGGGCAC	0.657																																																	0								ENSG00000120322						82	128	112					5																	140559053		2202	4295	6497	PCDHB8	SO:0001583	missense	0			-	HGNC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1438G>C	5.37:g.140559053G>C	ENSP00000239444:p.Asp480His	Somatic	0	651	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	423	11.30	B9EGV1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D480H	ENST00000239444.2	37	c.1438	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891035	0.72524	.	.	ENSG00000120322	ENST00000239444	T	0.74632	-0.86	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92358	0.7575	H	0.99555	4.625	0.51012	D	0.999903	D	0.89917	1.0	D	0.97110	1.0	D	0.95988	0.8983	9	0.87932	D	0	.	16.2834	0.82708	0.0:0.0:1.0:0.0	.	480	Q9UN66	PCDB8_HUMAN	H	480	ENSP00000239444:D480H	ENSP00000239444:D480H	D	+	1	0	PCDHB8	140539237	1.000000	0.71417	0.406000	0.26421	0.848000	0.48234	9.393000	0.97256	1.915000	0.55452	0.298000	0.19748	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	protein_coding	OTTHUMT00000251816.2	G	NM_019120	-		140559053	1	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140559053	G	C	140559053	3	2	18	1	0	0	0	0	1	0	0	0	11550	942	33	4	1440	4	PCDHB8	5	140559053	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	55598	140559053	40356207	36	1223											
IGF2R	3482	genome.wustl.edu	37	chr6	160494430	160494430	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaccaataggcccatgCtcatctccctggacaagcag	9	15	2	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr6:160494430C>G	ENST00000356956.1	+	34	5024	c.4876C>G	c.(4876-4878)Ctc>Gtc	p.L1626V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1626					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGGCCCATGCTCATCTCCCT	0.577																																																	0								ENSG00000197081						146	119	128					6																	160494430		2203	4300	6503	IGF2R	SO:0001583	missense	0			-	HGNC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4876C>G	6.37:g.160494430C>G	ENSP00000349437:p.Leu1626Val	Somatic	0	52	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q7Z7G9|Q96PT5	Missense_Mutation	SNP							pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.L1626V	ENST00000356956.1	37	c.4876	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476752	0.44044	.	.	ENSG00000197081	ENST00000356956	T	0.02579	4.24	5.3	4.41	0.53225	Mannose-6-phosphate receptor, binding (1);	0.287860	0.34411	N	0.003993	T	0.02649	0.0080	M	0.64404	1.975	0.58432	D	0.999999	P	0.35714	0.517	B	0.39660	0.306	T	0.45571	-0.9252	10	0.44086	T	0.13	-21.6089	12.5073	0.55987	0.0:0.8706:0.0:0.1294	.	1626	P11717	MPRI_HUMAN	V	1626	ENSP00000349437:L1626V	ENSP00000349437:L1626V	L	+	1	0	IGF2R	160414420	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.345000	0.52182	2.639000	0.89480	0.561000	0.74099	CTC	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	C	NM_000876	-		160494430	1	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	SNP	1.000	G	G	160494430	C	G	160494430	3	3	18	1	0	0	0	0	1	0	0	0	7578	797	28	4	5010	4	IGF2R	6	160494430	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		160494430	10620637	37	1224											
RNF216	54476	genome.wustl.edu	37	chr7	5780626	5780626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcactagtagttcaAcgagctcttgatctacctct	5	11	6	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:5780626A>G	ENST00000425013.2	-	4	1075	c.851T>C	c.(850-852)gTt>gCt	p.V284A	RNF216_ENST00000389902.3_Missense_Mutation_p.V341A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	284					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTAGTTCAACGAGCTCTTG	0.363																																																	0								ENSG00000011275						55	58	57					7																	5780626		2203	4300	6503	RNF216	SO:0001583	missense	0			-	HGNC	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.851T>C	7.37:g.5780626A>G	ENSP00000404602:p.Val284Ala	Somatic	0	40	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	11	56.00	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP							smart_Znf_C6HC	p.V341A	ENST00000425013.2	37	c.1022	CCDS34595.1	7	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780780	0.31502	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.52526	0.66;0.73	5.97	5.97	0.96955	.	0.648102	0.15048	N	0.283463	T	0.39332	0.1074	L	0.29908	0.895	0.25307	N	0.98923	B;B	0.23650	0.043;0.089	B;B	0.29862	0.049;0.108	T	0.36890	-0.9729	10	0.62326	D	0.03	-2.6838	9.8971	0.41324	0.9173:0.0:0.0827:0.0	.	284;341	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	A	284;341;96	ENSP00000404602:V284A;ENSP00000374552:V341A	ENSP00000374550:V284A	V	-	2	0	RNF216	5747152	0.956000	0.32656	0.938000	0.37757	0.277000	0.26821	2.452000	0.44961	2.289000	0.77006	0.459000	0.35465	GTT	-	NULL		0.363	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	protein_coding	OTTHUMT00000340374.1	A	NM_207111	-		5780626	-1	no_errors	ENST00000389902	ensembl	human	known	74_37	missense	SNP	0.960	G	G	5780626	A	G	5780626	3	3	18	1	0	0	0	0	1	0	0	0	13488	43	2	5	1805	5	RNF216	7	5780626	Missense_Mutation	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09		5780626	153358037	38	1225											
DNAH11	55536	genome.wustl.edu	37	chr7	21940719	21940719	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgcaaaagccaccccCgtggacagacaagaaaccaa	7	13	1	2	rs72658836		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:21940719C>T	ENST00000406877.3	-	0	2865				DNAH11_ENST00000328843.6_Silent_p.P4473P|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Silent_p.P4466P	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAGCCACCCCCGTGGACAGAC	0.562																																																	0								ENSG00000105877						84	89	87					7																	21940719		1901	4117	6018	DNAH11	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1221G>A	7.37:g.21940719C>T		Somatic	0	52	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P4473	ENST00000406877.3	37	c.13419	CCDS5374.1	7																																																																																			-	pfam_Dynein_heavy_dom		0.562	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH11	protein_coding	OTTHUMT00000250218.4	C	NM_018719	rs72658836		21940719	1	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	SNP	0.017	T	T	21940719	C	T	21940719	1	4	18	0	1	0	0	0	0	0	0	0	4601	639	23	1		1	DNAH11	7	21940719	3'UTR	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	16160093	21940719	137197944	39	1226											
ELMO1	9844	genome.wustl.edu	37	chr7	37354520	37354520	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatattcatggttggcaagAgaccaccttaaaaatacaag	7	7	1	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:37354520A>T	ENST00000310758.4	-	4	773	c.126T>A	c.(124-126)tcT>tcA	p.S42S	ELMO1_ENST00000442504.1_Silent_p.S42S|ELMO1_ENST00000448602.1_Silent_p.S42S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	42					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTTGGCAAGAGACCACCTTA	0.343																																																	0								ENSG00000155849						90	86	87					7																	37354520		2203	4300	6503	ELMO1	SO:0001819	synonymous_variant	0			-	HGNC	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.126T>A	7.37:g.37354520A>T		Somatic	0	45	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP							pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S42	ENST00000310758.4	37	c.126	CCDS5449.1	7																																																																																			-	NULL		0.343	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	protein_coding	OTTHUMT00000219830.4	A	NM_130442	-		37354520	-1	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	SNP	0.981	T	T	37354520	A	T	37354520	2	4	18	1	0	0	0	0	0	0	0	1	5067	291	11	5		5	ELMO1	7	37354520	Silent	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	15413801	37354520	121784143	40	1227											
INHBA	3624	genome.wustl.edu	37	chr7	41729855	41729855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaccgctggatgctgCtggagacagggaagacatgc	14	11	0	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:41729855C>T	ENST00000242208.4	-	3	920	c.674G>A	c.(673-675)aGc>aAc	p.S225N	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.S225N	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	225					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGGATGCTGCTGGAGACAGG	0.592										TSP Lung(11;0.080)																																							0								ENSG00000122641						55	53	54					7																	41729855		2203	4300	6503	INHBA	SO:0001583	missense	0			-	HGNC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.674G>A	7.37:g.41729855C>T	ENSP00000242208:p.Ser225Asn	Somatic	0	65	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q14599	Missense_Mutation	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.S225N	ENST00000242208.4	37	c.674	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	15.16	2.751289	0.49257	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66280	-0.2;-0.2	6.06	5.18	0.71444	Transforming growth factor-beta, N-terminal (1);	0.381502	0.34555	N	0.003875	T	0.52289	0.1725	L	0.29908	0.895	0.37559	D	0.918993	B	0.12013	0.005	B	0.15484	0.013	T	0.53975	-0.8362	10	0.52906	T	0.07	-20.8215	15.235	0.73422	0.0:0.9329:0.0:0.0671	.	225	P08476	INHBA_HUMAN	N	225	ENSP00000242208:S225N;ENSP00000397197:S225N	ENSP00000242208:S225N	S	-	2	0	INHBA	41696380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.172000	0.42463	1.565000	0.49641	0.655000	0.94253	AGC	-	pfam_TGF-b_N		0.592	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	protein_coding	OTTHUMT00000250793.1	C		-		41729855	-1	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41729855	C	T	41729855	3	4	18	1	0	0	0	0	1	0	0	0	7743	797	28	2	610	2	INHBA	7	41729855	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	4375335	41729855	117408808	41	1228											
GCK	2645	genome.wustl.edu	37	chr7	44187289	44187289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctctcgtccaccaggcGgtcatactccagcaggaact	10	14	2	1	rs556436603		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:44187289G>T	ENST00000403799.3	-	7	1292	c.823C>A	c.(823-825)Cgc>Agc	p.R275S	GCK_ENST00000395796.3_Missense_Mutation_p.R274S|GCK_ENST00000437084.1_Missense_Mutation_p.R258S|GCK_ENST00000345378.2_Missense_Mutation_p.R276S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	275	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCACCAGGCGGTCATACTCC	0.677																																																	0			GRCh37	CM015282	GCK	M		ENSG00000106633						66	67	67					7																	44187289		2203	4300	6503	GCK	SO:0001583	missense	0			-	HGNC	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.823C>A	7.37:g.44187289G>T	ENSP00000384247:p.Arg275Ser	Somatic	0	81	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R276S	ENST00000403799.3	37	c.826	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084632	0.76642	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.86651	2.83	0.80722	D	1	P;B;P	0.50272	0.795;0.347;0.933	B;B;B	0.43386	0.322;0.103;0.418	D	0.96215	0.9156	10	0.33940	T	0.23	-33.6426	18.9928	0.92800	0.0:0.0:1.0:0.0	.	275;276;274	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	S	275;274;276;258	ENSP00000384247:R275S;ENSP00000379142:R274S;ENSP00000223366:R276S;ENSP00000402840:R258S	ENSP00000223366:R276S	R	-	1	0	GCK	44153814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.414000	0.59802	2.585000	0.87301	0.561000	0.74099	CGC	-	pfam_Hexokinase_C		0.677	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	protein_coding	OTTHUMT00000251069.2	G		-		44187289	-1	no_errors	ENST00000345378	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44187289	G	T	44187289	3	4	18	1	0	0	0	0	1	0	0	0	6295	1116	39	3	590	3	GCK	7	44187289	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	2457434	44187289	114951374	42	1229											
CYP3A4	1576	genome.wustl.edu	37	chr7	99361514	99361514	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaatttcctcctgcagTttctgctggacatcagggtg	10	11	3	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:99361514T>G	ENST00000336411.2	-	10	1173	c.990A>C	c.(988-990)aaA>aaC	p.K330N	CYP3A4_ENST00000354593.2_Missense_Mutation_p.K180N|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	330					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CCTCCTGCAGTTTCTGCTGGA	0.453																																																	0								ENSG00000160868						73	66	68					7																	99361514		2203	4300	6503	CYP3A4	SO:0001583	missense	0			-	HGNC	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.990A>C	7.37:g.99361514T>G	ENSP00000337915:p.Lys330Asn	Somatic	0	113	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	68	8.00	P05184|Q16757|Q9UK50	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.K330N	ENST00000336411.2	37	c.990	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333348	0.60853	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.73258	-0.73;-0.73	4.62	-0.696	0.11287	.	0.046546	0.85682	D	0.000000	T	0.73799	0.3633	M	0.90542	3.125	0.49051	D	0.999748	P;P;P;P;P	0.49253	0.808;0.85;0.921;0.921;0.921	B;P;P;P;P	0.45506	0.366;0.483;0.468;0.468;0.468	T	0.73275	-0.4034	10	0.72032	D	0.01	.	8.1909	0.31368	0.0:0.3879:0.0:0.6121	.	180;257;330;330;330	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	N	180;330	ENSP00000346607:K180N;ENSP00000337915:K330N	ENSP00000337915:K330N	K	-	3	2	CYP3A4	99199450	0.021000	0.18746	0.970000	0.41538	0.932000	0.56968	-0.737000	0.04877	-0.398000	0.07679	0.459000	0.35465	AAA	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.453	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	protein_coding	OTTHUMT00000345059.1	T		-		99361514	-1	no_errors	ENST00000336411	ensembl	human	known	74_37	missense	SNP	0.993	G	G	99361514	T	G	99361514	3	3	18	1	0	0	0	0	1	0	0	0	4180	1722	60	5	537	5	CYP3A4	7	99361514	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	55174225	99361514	59777149	43	1230											
SSPO	23145	genome.wustl.edu	37	chr7	149477175	149477175	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctatgtccaggcctgtgCcaggcggcacatccacattc	10	15	0	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:149477175C>T	ENST00000378016.2	+	0	1352							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGCCTGTGCCAGGCGGCAC	0.652																																																	0								ENSG00000197558						20	22	21					7																	149477175		2032	4173	6205	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477175C>T		Somatic	0	58	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.652	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C		-		149477175	1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	1.000	T	T	149477175	C	T	149477175	1	4	18	0	1	0	0	0	0	0	0	0	15196	739	26	2		2	SSPO	7	149477175	RNA	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	50115661	149477175	9661488	44	1231											
BNIP3L	665	genome.wustl.edu	37	chr8	26240684	26240686	+	In_Frame_Del	DEL	ACA	ACA	-													cgagccgccgccgcccctgcAcaacaacaacaacaactgcg							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:26240684_26240686delACA	ENST00000380629.2	+	1	271_273	c.38_40delACA	c.(37-42)cacaac>cac	p.N18del	BNIP3L_ENST00000523515.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000520409.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	18					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CCGCCCCTGCACAACAACAACAA	0.655																																																	0								ENSG00000104765																																			BNIP3L	SO:0001651	inframe_deletion	0				HGNC	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"BCL2/adenovirus E1B 19kD-interacting protein 3-like"			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.38_40delACA	8.37:g.26240693_26240695delACA	ENSP00000370003:p.Asn18del	Somatic	0	33	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B0AZS9|Q5JW63|Q8NF87	In_Frame_Del	DEL							pfam_BNIP3	p.N17in_frame_del	ENST00000380629.2	37	c.38_40	CCDS6050.1	8																																																																																			-	NULL		0.655	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3L	protein_coding	OTTHUMT00000216895.1	ACA	NM_004331			26240686	1	no_errors	ENST00000380629	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000	-	-	26240686	ACA	-	26240684	7	5	18	1	0	1	0	1	0	0	0	0	1479	159	6	0	40	0	BNIP3L	8	26240684	In_Frame_Del	DEL	ACA	TCGA-3R-A8YX-01A-11D-A37C-09		26240684	120123338	45	1232											
MYST3	7994	genome.wustl.edu	37	chr8	41801450	41801450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgacccagatcagataacgGtttctctggagaccctgctt	9	12	2	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:41801450G>T	ENST00000396930.3	-	14	2587	c.2044C>A	c.(2044-2046)Ccg>Acg	p.P682T	KAT6A_ENST00000265713.2_Missense_Mutation_p.P682T|KAT6A_ENST00000485568.1_Missense_Mutation_p.P682T|KAT6A_ENST00000406337.1_Missense_Mutation_p.P682T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	682	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCAGATAACGGTTTCTCTGGA	0.393																																																	0								ENSG00000083168						119	102	108					8																	41801450		2203	4300	6503	KAT6A	SO:0001583	missense	0			-	HGNC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2044C>A	8.37:g.41801450G>T	ENSP00000380136:p.Pro682Thr	Somatic	0	62	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q76L81	Missense_Mutation	SNP							pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P682T	ENST00000396930.3	37	c.2044	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906399	0.52333	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	D;D;D;D	0.97688	-2.56;-2.56;-2.56;-4.49	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.97491	4.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.98635	1.0673	10	0.87932	D	0	-14.0835	20.3931	0.98965	0.0:0.0:1.0:0.0	.	682;682	A5PLL3;Q92794	.;KAT6A_HUMAN	T	682;682;682;262;682	ENSP00000265713:P682T;ENSP00000385888:P682T;ENSP00000380136:P682T;ENSP00000430606:P682T	ENSP00000265713:P682T	P	-	1	0	KAT6A	41920607	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CCG	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.393	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	protein_coding	OTTHUMT00000318163.1	G	NM_006766	-		41801450	-1	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41801450	G	T	41801450	3	4	18	1	0	0	0	0	1	0	0	0	10106	1261	44	3	3990	3	MYST3	8	41801450	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	15560766	41801450	104562572	46	1233											
CSMD3	114788	genome.wustl.edu	37	chr8	113599332	113599332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctaaatgaaatgttctgGctgaaatattgattcccttt	8	6	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:113599332G>T	ENST00000297405.5	-	23	4092	c.3848C>A	c.(3847-3849)gCc>gAc	p.A1283D	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1243D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1179D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1283D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1283	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1243G(1)|p.A1283G(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						AAATGTTCTGGCTGAAATATT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)						ENSG00000164796						129	117	121					8																	113599332		2203	4299	6502	CSMD3	SO:0001583	missense	0			-	HGNC	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.3848C>A	8.37:g.113599332G>T	ENSP00000297405:p.Ala1283Asp	Somatic	0	66	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A1283D	ENST00000297405.5	37	c.3848	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654894	0.67472	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.08	4.08	0.47627	CUB (5);	0.000000	0.64402	D	0.000001	T	0.57740	0.2074	M	0.86178	2.8	0.36191	D	0.850062	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.79108	0.925;0.992;0.991	T	0.65944	-0.6045	10	0.22109	T	0.4	.	16.8146	0.85730	0.0:0.0:1.0:0.0	.	1179;1283;1243	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	1243;1283;623;1179;1283	ENSP00000345799:A1243D;ENSP00000297405:A1283D;ENSP00000341558:A623D;ENSP00000412263:A1179D;ENSP00000343124:A1283D	ENSP00000297405:A1283D	A	-	2	0	CSMD3	113668508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.481000	0.73608	2.267000	0.75376	0.591000	0.81541	GCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113599332	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113599332	G	T	113599332	3	4	18	1	0	0	0	0	1	0	0	0	3948	1203	42	3	7471	3	CSMD3	8	113599332	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	71797882	113599332	32764690	47	1234											
ZFP41	286128	genome.wustl.edu	37	chr8	144332442	144332442	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacgggagagaagcccttCaaatgcggggagtgcgggaa	16	9	1	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:144332442C>A	ENST00000330701.4	+	2	798	c.429C>A	c.(427-429)ttC>ttA	p.F143L	ZFP41_ENST00000520584.1_Missense_Mutation_p.F143L|ZFP41_ENST00000522452.1_Missense_Mutation_p.F143L	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	143					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTTCAAATGCGGGG	0.582																																																	0								ENSG00000181638						113	112	112					8																	144332442		2203	4300	6503	ZFP41	SO:0001583	missense	0			-	HGNC		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.429C>A	8.37:g.144332442C>A	ENSP00000327427:p.Phe143Leu	Somatic	0	29	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	D3DWJ5	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F143L	ENST00000330701.4	37	c.429	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832436	0.50845	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.21932	1.98;1.98;1.98	3.2	-3.02	0.05446	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25865	0.0630	L	0.59912	1.85	0.09310	N	1	P	0.52170	0.951	P	0.48704	0.587	T	0.25117	-1.0141	9	0.87932	D	0	-9.3802	9.9525	0.41647	0.0:0.6476:0.0:0.3524	.	143	Q8N8Y5	ZFP41_HUMAN	L	143	ENSP00000430465:F143L;ENSP00000327427:F143L;ENSP00000428966:F143L	ENSP00000327427:F143L	F	+	3	2	ZFP41	144403817	0.000000	0.05858	0.006000	0.13384	0.642000	0.38348	-0.176000	0.09811	-0.698000	0.05085	-0.384000	0.06662	TTC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	protein_coding	OTTHUMT00000381114.2	C	NM_173832	-		144332442	1	no_errors	ENST00000330701	ensembl	human	known	74_37	missense	SNP	0.005	A	A	144332442	C	A	144332442	3	1	18	1	0	0	0	0	1	0	0	0	17656	825	29	3	431	3	ZFP41	8	144332442	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	30733110	144332442	2031580	48	1235											
SMARCA2	6595	genome.wustl.edu	37	chr9	2104085	2104085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgactaatcaccgagtgCtgcttttctgccagatgaca	10	11	2	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:2104085C>A	ENST00000382203.1	+	23	3417	c.3208C>A	c.(3208-3210)Ctg>Atg	p.L1070M	SMARCA2_ENST00000357248.2_Missense_Mutation_p.L1070M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L1070M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L1070M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1070	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		TCACCGAGTGCTGCTTTTCTG	0.458																																																	0								ENSG00000080503						233	210	218					9																	2104085		2203	4300	6503	SMARCA2	SO:0001583	missense	0			-	HGNC	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.3208C>A	9.37:g.2104085C>A	ENSP00000371638:p.Leu1070Met	Somatic	0	82	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	23	64.62	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L1070M	ENST00000382203.1	37	c.3208	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460818	0.84317	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.69	3.83	0.44106	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000012	D	0.93877	0.8041	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.85130	0.927;0.997;0.994	D	0.94828	0.7993	10	0.72032	D	0.01	-22.1844	12.6625	0.56822	0.0:0.8789:0.0:0.1211	.	671;1070;1070	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	M	1070	ENSP00000265773:L1070M;ENSP00000349788:L1070M;ENSP00000371638:L1070M;ENSP00000371629:L1070M	ENSP00000265773:L1070M	L	+	1	2	SMARCA2	2094085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.984000	0.56923	2.683000	0.91414	0.563000	0.77884	CTG	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.458	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	C	NM_003070	-		2104085	1	no_errors	ENST00000349721	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2104085	C	A	2104085	3	1	18	1	0	0	0	0	1	0	0	0	14777	796	28	3	3294	3	SMARCA2	9	2104085	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		2104085	139109346	49	1236											
PGM5	5239	genome.wustl.edu	37	chr9	70999430	70999430	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gactaggaagacaagaatttGacctagaaaacaaattcaaa	7	6	1	4			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:70999430G>C	ENST00000396396.1	+	3	770	c.541G>C	c.(541-543)Gac>Cac	p.D181H	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.D181H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	181					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAAGAATTTGACCTAGAAAA	0.388																																																	0								ENSG00000154330						77	73	75					9																	70999430		2203	4299	6502	PGM5	SO:0001583	missense	0			-	HGNC	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.541G>C	9.37:g.70999430G>C	ENSP00000379678:p.Asp181His	Somatic	0	126	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	112	8.20	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP							pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.D181H	ENST00000396396.1	37	c.541	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	16.95	3.263318	0.59431	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.65364	0.43;-0.15	4.46	3.55	0.40652	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.050859	0.85682	U	0.000000	T	0.64605	0.2613	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.58873	0.847	T	0.68387	-0.5422	10	0.87932	D	0	.	13.5718	0.61851	0.0:0.158:0.842:0.0	.	181	Q15124	PGM5_HUMAN	H	181	ENSP00000379678:D181H;ENSP00000379674:D181H	ENSP00000379674:D181H	D	+	1	0	PGM5	70189250	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.847000	0.86896	0.963000	0.38082	0.573000	0.79308	GAC	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.388	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	protein_coding	OTTHUMT00000052548.2	G	NM_021965	-		70999430	1	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70999430	G	C	70999430	3	2	18	1	0	0	0	0	1	0	0	0	11803	1290	45	4	551	4	PGM5	9	70999430	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	68895345	70999430	70214001	50	1237											
COL15A1	1306	genome.wustl.edu	37	chr9	101812175	101812175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaccacactgcaaaatgCcagtaagtagcaatcactgc	7	13	1	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:101812175C>T	ENST00000375001.3	+	30	3325	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	968	Nonhelical region 6 (NC6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGCAAAATGCCAGTAAGTAG	0.478																																																	0								ENSG00000204291						208	177	187					9																	101812175		2203	4300	6503	COL15A1	SO:0001583	missense	0			-	HGNC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2902C>T	9.37:g.101812175C>T	ENSP00000364140:p.Pro968Ser	Somatic	0	43	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP							pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P968S	ENST00000375001.3	37	c.2902	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952602	0.53293	.	.	ENSG00000204291	ENST00000375001	T	0.34072	1.38	6.06	6.06	0.98353	C-type lectin fold (1);	0.293880	0.29616	N	0.011645	T	0.47469	0.1447	L	0.48877	1.53	0.30913	N	0.728836	D	0.76494	0.999	D	0.63488	0.915	T	0.35276	-0.9795	10	0.07325	T	0.83	-2.7327	16.1209	0.81357	0.0:1.0:0.0:0.0	.	968	P39059	COFA1_HUMAN	S	968	ENSP00000364140:P968S	ENSP00000364140:P968S	P	+	1	0	COL15A1	100851996	0.173000	0.23056	0.394000	0.26270	0.943000	0.58893	1.917000	0.39996	2.882000	0.98803	0.655000	0.94253	CCA	-	superfamily_C-type_lectin_fold		0.478	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	protein_coding	OTTHUMT00000053386.3	C	NM_001855	-		101812175	1	no_errors	ENST00000375001	ensembl	human	known	74_37	missense	SNP	0.659	T	T	101812175	C	T	101812175	3	4	18	1	0	0	0	0	1	0	0	0	3674	739	26	2	3020	2	COL15A1	9	101812175	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	30812745	101812175	39401256	51	1238											
ZER1	10444	genome.wustl.edu	37	chr9	131515860	131515860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcttctcgcagttagtcAggtacagctccaccaggtcc	9	14	2	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:131515860A>G	ENST00000291900.2	-	4	735	c.329T>C	c.(328-330)cTg>cCg	p.L110P	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	110					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GCAGTTAGTCAGGTACAGCTC	0.607																																																	0								ENSG00000160445						42	44	43					9																	131515860		2203	4300	6503	ZER1	SO:0001583	missense	0			-	HGNC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.329T>C	9.37:g.131515860A>G	ENSP00000291900:p.Leu110Pro	Somatic	0	43	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	O00156|Q5T272|Q5T273	Missense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo	p.L110P	ENST00000291900.2	37	c.329	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241611	0.79912	.	.	ENSG00000160445	ENST00000291900;ENST00000414921	T;T	0.37584	1.19;1.19	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.51325	-0.8720	10	0.72032	D	0.01	-15.8917	15.1338	0.72545	1.0:0.0:0.0:0.0	.	110	Q7Z7L7	ZER1_HUMAN	P	110	ENSP00000291900:L110P;ENSP00000393051:L110P	ENSP00000291900:L110P	L	-	2	0	ZER1	130555681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.473000	0.90410	2.173000	0.68751	0.533000	0.62120	CTG	-	NULL		0.607	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	protein_coding	OTTHUMT00000054491.1	A	NM_006336	-		131515860	-1	no_errors	ENST00000291900	ensembl	human	known	74_37	missense	SNP	1.000	G	G	131515860	A	G	131515860	3	3	18	1	0	0	0	0	1	0	0	0	17632	188	7	5	2023	5	ZER1	9	131515860	Missense_Mutation	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	29703685	131515860	9697571	52	1239											
CTNNA3	29119	genome.wustl.edu	37	chr10	68139076	68139076	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctggtctcttaaggctatGatacacttgttgacatcttc	7	10	2	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:68139076G>T	ENST00000433211.2	-	12	1740	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	CTNNA3_ENST00000373744.4_Silent_p.I522I	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						TTAAGGCTATGATACACTTGT	0.423																																																	0								ENSG00000183230						121	122	121					10																	68139076		2203	4300	6503	CTNNA3	SO:0001819	synonymous_variant	0			-	HGNC	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.1566C>A	10.37:g.68139076G>T		Somatic	0	57	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Silent	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.I522	ENST00000433211.2	37	c.1566	CCDS7269.1	10																																																																																			-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	G	NM_013266	-		68139076	-1	no_errors	ENST00000373744	ensembl	human	known	74_37	silent	SNP	1.000	T	T	68139076	G	T	68139076	2	4	18	1	0	0	0	0	0	0	0	1	4016	1280	45	3		3	CTNNA3	10	68139076	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		68139076	67395671	53	1240											
PBLD	64081	genome.wustl.edu	37	chr10	70056109	70056109	+	Frame_Shift_Del	DEL	C	C	-													ctggtgtaaaccatctcagtCcaaagcaggaacctgaggat							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:70056109delC	ENST00000358769.2	-	4	399	c.197delG	c.(196-198)ggafs	p.G66fs	PBLD_ENST00000336578.1_Frame_Shift_Del_p.G33fs|PBLD_ENST00000495025.2_Frame_Shift_Del_p.G66fs|PBLD_ENST00000432941.1_Frame_Shift_Del_p.G66fs|PBLD_ENST00000309049.4_Frame_Shift_Del_p.G66fs	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	66					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCATCTCAGTCCAAAGCAGGA	0.453																																																	0								ENSG00000108187						46	46	46					10																	70056109		2203	4300	6503	PBLD	SO:0001589	frameshift_variant	0				HGNC	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.197delG	10.37:g.70056109delC	ENSP00000351619:p.Gly66fs	Somatic	0	44	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	A8MZJ3|C9JIM0|Q9HCC2	Frame_Shift_Del	DEL							pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.G66fs	ENST00000358769.2	37	c.197	CCDS7277.2	10																																																																																			-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.453	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	protein_coding	OTTHUMT00000048314.1	C	NM_022129			70056109	-1	no_errors	ENST00000309049	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70056109	C	-	70056109	7	5	18	1	0	1	0	1	0	0	0	0	11491	855	30	0	786	0	PBLD	10	70056109	Frame_Shift_Del	DEL	C	TCGA-3R-A8YX-01A-11D-A37C-09	1917033	70056109	65478638	54	1241											
DOCK1	1793	genome.wustl.edu	37	chr10	128817029	128817029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccatcagatccgaaaagaGtttccgcatttagtggacag	9	9	1	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:128817029G>T	ENST00000280333.6	+	13	1303	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	398					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)		TCCGAAAAGAGTTTCCGCATT	0.443																																																	0								ENSG00000150760						71	72	72					10																	128817029		1891	4108	5999	DOCK1	SO:0001583	missense	0			-	HGNC	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.1194G>T	10.37:g.128817029G>T	ENSP00000280333:p.Glu398Asp	Somatic	0	60	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A9Z1Z5	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.E398D	ENST00000280333.6	37	c.1194		10	.	.	.	.	.	.	.	.	.	.	G	4.961	0.178581	0.09443	.	.	ENSG00000150760	ENST00000280333	T	0.04275	3.66	4.32	1.21	0.21127	.	0.054079	0.64402	D	0.000001	T	0.03220	0.0094	N	0.21545	0.675	0.41534	D	0.988472	B;B	0.09022	0.002;0.0	B;B	0.17979	0.02;0.002	T	0.48864	-0.8997	10	0.19590	T	0.45	.	8.2955	0.31982	0.4257:0.0:0.5743:0.0	.	398;398	B2RUU3;Q14185	.;DOCK1_HUMAN	D	398	ENSP00000280333:E398D	ENSP00000280333:E398D	E	+	3	2	DOCK1	128707019	0.983000	0.35010	0.993000	0.49108	0.969000	0.65631	0.177000	0.16801	0.402000	0.25451	0.557000	0.71058	GAG	-	NULL		0.443	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	protein_coding	OTTHUMT00000050979.2	G	NM_001380	-		128817029	1	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	SNP	0.997	T	T	128817029	G	T	128817029	3	4	18	1	0	0	0	0	1	0	0	0	4686	1020	36	3	1244	3	DOCK1	10	128817029	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	58760920	128817029	6717718	55	1242											
MKI67	4288	genome.wustl.edu	37	chr10	129914188	129914188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtactgtcttctttgaCattcttgatatgtacctgag	9	8	3	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:129914188C>T	ENST00000368654.3	-	7	859	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	162					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTTTGACATTCTTGATA	0.403																																																	0								ENSG00000148773						192	183	186					10																	129914188		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.484G>A	10.37:g.129914188C>T	ENSP00000357643:p.Val162Ile	Somatic	0	57	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q5VWH2	Missense_Mutation	SNP							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.V162I	ENST00000368654.3	37	c.484	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.208	0.799697	0.16397	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.23348	1.91	3.69	-0.334	0.12666	.	1.000480	0.08067	N	0.999283	T	0.13072	0.0317	N	0.19112	0.55	0.09310	N	1	B	0.32781	0.384	B	0.30251	0.113	T	0.28996	-1.0026	9	.	.	.	.	4.0221	0.09670	0.0:0.3813:0.2549:0.3638	.	162	P46013	KI67_HUMAN	I	162	ENSP00000357643:V162I	.	V	-	1	0	MKI67	129804178	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.422000	0.07043	-0.051000	0.13334	-0.140000	0.14226	GTC	-	NULL		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	C	NM_002417	-		129914188	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	T	T	129914188	C	T	129914188	3	4	18	1	0	0	0	0	1	0	0	0	9600	478	17	2	9322	2	MKI67	10	129914188	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09	1097159	129914188	5620559	56	1243											
OR4S1	256148	genome.wustl.edu	37	chr11	48328651	48328651	+	Frame_Shift_Del	DEL	A	A	-													cactaaggaacaacgatgtgAaaaatgccatgaggaagctg					rs190348305		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:48328651delA	ENST00000319988.1	+	1	877	c.877delA	c.(877-879)aaafs	p.K293fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	293						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(12)|ovary(1)|skin(3)	21						CAACGATGTGAAAAATGCCAT	0.448																																																	0								ENSG00000176555						79	73	75					11																	48328651		2201	4298	6499	OR4S1	SO:0001589	frameshift_variant	0				HGNC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.877delA	11.37:g.48328651delA	ENSP00000321447:p.Lys293fs	Somatic	0	30	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q6IFB4	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N294fs	ENST00000319988.1	37	c.877	CCDS31488.1	11																																																																																			-	NULL		0.448	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	protein_coding	OTTHUMT00000390556.1	A	NM_001004725			48328651	1	no_errors	ENST00000319988	ensembl	human	known	74_37	frame_shift_del	DEL	0.411	-	-	48328651	A	-	48328651	7	5	18	1	0	1	0	1	0	0	0	0	11084	247	9	0	879	0	OR4S1	11	48328651	Frame_Shift_Del	DEL	A	TCGA-3R-A8YX-01A-11D-A37C-09		48328651	86677865	57	1244											
OR4C16	219428	genome.wustl.edu	37	chr11	55340374	55340374	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcatatttatgtacacAtgccttgcaaccgtattccc	5	13	0	0	rs371509327		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:55340374A>C	ENST00000314634.3	+	1	771	c.771A>C	c.(769-771)acA>acC	p.T257T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	257						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(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTATGTACACATGCCTTGCAA	0.403																																																	0								ENSG00000181935	A		1,4401	2.1+/-5.4	0,1,2200	165	140	148		771	-3.4	0.8	11		148	0,8592		0,0,4296	no	coding-synonymous	OR4C16	NM_001004701.2		0,1,6496	CC,CA,AA		0.0,0.0227,0.0077		257/311	55340374	1,12993	2201	4296	6497	OR4C16	SO:0001819	synonymous_variant	0			-	HGNC	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.771A>C	11.37:g.55340374A>C		Somatic	0	100	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	46	61.02	Q6IEV8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T257	ENST00000314634.3	37	c.771	CCDS31502.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	protein_coding	OTTHUMT00000382627.1	A	NM_001004701	-		55340374	1	no_errors	ENST00000314634	ensembl	human	known	74_37	silent	SNP	0.002	C	C	55340374	A	C	55340374	2	2	18	1	0	0	0	0	0	0	0	1	11051	204	8	5		5	OR4C16	11	55340374	Silent	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	7011723	55340374	79666142	58	1245											
SSH3	54961	genome.wustl.edu	37	chr11	67075389	67075389	+	Silent	SNP	G	G	A													gtgttggatgtcagtgacctGgagagtgtcacttccaaaga							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:67075389G>A	ENST00000308127.4	+	8	1042	c.864G>A	c.(862-864)ctG>ctA	p.L288L	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.L288L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	288					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCAGTGACCTGGAGAGTGTCA	0.622																																																	0								ENSG00000172830						76	74	75					11																	67075389		2200	4295	6495	SSH3	SO:0001819	synonymous_variant	0			-	HGNC	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.864G>A	11.37:g.67075389G>A		Somatic	0	64	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	91	9.00	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L288	ENST00000308127.4	37	c.864	CCDS8157.1	11																																																																																			-	pfam_DEK_C		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	protein_coding	OTTHUMT00000393167.1	G	NM_018276	-		67075389	1	no_errors	ENST00000308127	ensembl	human	known	74_37	silent	SNP	1.000	A	A	67075389	G	A	67075389	2	1	18	1	0	0	0	0	0	0	0	1	15193	1335	47	2		2	SSH3	11	67075389	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	11735015	67075389	67931127	59	1246	15	2									
SSH3	54961	genome.wustl.edu	37	chr11	67075390	67075390	+	Missense_Mutation	SNP	G	G	A													tgttggatgtcagtgacctgGagagtgtcacttccaaagag							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:67075390G>A	ENST00000308127.4	+	8	1043	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.E289K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	289					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CAGTGACCTGGAGAGTGTCAC	0.622																																																	0								ENSG00000172830						75	74	74					11																	67075390		2200	4295	6495	SSH3	SO:0001583	missense	0			-	HGNC	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.865G>A	11.37:g.67075390G>A	ENSP00000312081:p.Glu289Lys	Somatic	0	68	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	92	8.91	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E289K	ENST00000308127.4	37	c.865	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295393	0.60086	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.24350	3.49;3.6;1.86	4.5	3.58	0.41010	DEK, C-terminal (1);	0.912692	0.09095	N	0.849254	T	0.42404	0.1201	L	0.58810	1.83	0.44762	D	0.997763	P;P	0.46277	0.787;0.875	B;P	0.53185	0.359;0.72	T	0.19712	-1.0297	10	0.72032	D	0.01	-3.8302	13.8019	0.63206	0.0:0.1551:0.8449:0.0	.	143;289	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	K	289;289;41	ENSP00000312081:E289K;ENSP00000365948:E289K;ENSP00000433902:E41K	ENSP00000312081:E289K	E	+	1	0	SSH3	66831966	1.000000	0.71417	0.975000	0.42487	0.018000	0.09664	7.989000	0.88205	1.033000	0.39918	0.462000	0.41574	GAG	-	pfam_DEK_C		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	protein_coding	OTTHUMT00000393167.1	G	NM_018276	-		67075390	1	no_errors	ENST00000308127	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67075390	G	A	67075390	3	1	18	1	0	0	0	0	1	0	0	0	15193	1175	41	2	895	2	SSH3	11	67075390	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	1	67075390	67931126	60	1247	15	2									
TMEM123	114908	genome.wustl.edu	37	chr11	102323281	102323281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgctttcatgggcgGcccccagcagcgctagcacc	13	16	1	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:102323281G>A	ENST00000398136.2	-	1	494	c.74C>T	c.(73-75)gCc>gTc	p.A25V	RP11-315O6.1_ENST00000528717.1_RNA|TMEM123_ENST00000361236.3_Missense_Mutation_p.A25V|TMEM123_ENST00000525577.1_Intron|TMEM123_ENST00000532161.1_5'Flank	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	25					oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TTCATGGGCGGCCCCCAGCAG	0.706																																																	0								ENSG00000152558						6	10	9					11																	102323281		1881	4018	5899	TMEM123	SO:0001583	missense	0			-	HGNC	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"pro oncosis receptor inducing membrane injury gene"	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.74C>T	11.37:g.102323281G>A	ENSP00000381204:p.Ala25Val	Somatic	0	27	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	2	75.00	Q8IWS2|Q96QV2	Missense_Mutation	SNP							NULL	p.A25V	ENST00000398136.2	37	c.74	CCDS41702.1	11	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635154	0.29068	.	.	ENSG00000152558	ENST00000361236;ENST00000398136	T;T	0.49432	1.5;0.78	4.16	1.94	0.25998	.	0.775945	0.10852	N	0.627002	T	0.35537	0.0935	L	0.38175	1.15	0.09310	N	0.999991	B;B	0.23891	0.035;0.093	B;B	0.18561	0.013;0.022	T	0.24977	-1.0145	10	0.48119	T	0.1	0.9557	7.5402	0.27733	0.1648:0.0:0.8352:0.0	.	25;25	Q8N131-2;Q8N131	.;PORIM_HUMAN	V	25	ENSP00000355285:A25V;ENSP00000381204:A25V	ENSP00000355285:A25V	A	-	2	0	TMEM123	101828491	0.000000	0.05858	0.017000	0.16124	0.056000	0.15407	0.052000	0.14163	0.341000	0.23771	0.591000	0.81541	GCC	-	NULL		0.706	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM123	protein_coding	OTTHUMT00000394178.1	G	NM_052932	-		102323281	-1	no_errors	ENST00000398136	ensembl	human	known	74_37	missense	SNP	0.006	A	A	102323281	G	A	102323281	3	1	18	1	0	0	0	0	1	0	0	0	16043	1203	42	2	572	2	TMEM123	11	102323281	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	35247891	102323281	32683235	61	1248											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110034091	110034091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcctgaacacaaaaagcaGccttgtccatatggtaactt	7	10	0	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:110034091G>T	ENST00000278590.3	+	5	1293	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.Q415H|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.Q383H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	414							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACAAAAAGCAGCCTTGTCCAT	0.373																																																	0								ENSG00000149289						54	50	51					11																	110034091		1845	4085	5930	ZC3H12C	SO:0001583	missense	0			-	HGNC		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1242G>T	11.37:g.110034091G>T	ENSP00000278590:p.Gln414His	Somatic	0	59	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B4DI65|B4DR47	Missense_Mutation	SNP							pfam_RNase_Zc3h12	p.Q414H	ENST00000278590.3	37	c.1242	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432780	0.62844	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37915	1.17;1.17;1.18	5.82	4.92	0.64577	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.82630	2.6	0.46011	D	0.998816	D;D;D	0.89917	0.996;1.0;0.996	D;D;D	0.83275	0.953;0.996;0.953	T	0.66709	-0.5855	10	0.87932	D	0	-20.5556	11.2945	0.49269	0.1908:0.0:0.8092:0.0	.	415;414;414	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	414;415;383	ENSP00000278590:Q414H;ENSP00000431821:Q415H;ENSP00000413094:Q383H	ENSP00000278590:Q414H	Q	+	3	2	ZC3H12C	109539301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.700000	0.37815	1.473000	0.48159	-0.258000	0.10820	CAG	-	NULL		0.373	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	protein_coding	OTTHUMT00000390491.1	G	NM_033390	-		110034091	1	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110034091	G	T	110034091	3	4	18	1	0	0	0	0	1	0	0	0	17570	962	34	3	1260	3	ZC3H12C	11	110034091	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	7710810	110034091	24972425	62	1249											
MGST1	4257	genome.wustl.edu	37	chr12	16516913	16516913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagagctttgagtttttttGttggatatggagttactctt	10	3	1	2	rs11555873		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:16516913G>A	ENST00000396209.1	+	4	549	c.406G>A	c.(406-408)Gtt>Att	p.V136I	MGST1_ENST00000396210.3_Missense_Mutation_p.V136I|MGST1_ENST00000010404.2_Missense_Mutation_p.V136I|MGST1_ENST00000396207.1_Missense_Mutation_p.V136I|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000540056.1_3'UTR	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	136					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	GAGTTTTTTTGTTGGATATGG	0.413																																																	0								ENSG00000008394	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	170	159	163		406,406,406,406	-2.1	0.6	12	dbSNP_120	163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MGST1	NM_020300.3,NM_145764.1,NM_145791.1,NM_145792.1	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	136/156,136/156,136/156,136/156	16516913	1,13005	2203	4300	6503	MGST1	SO:0001583	missense	0			-	HGNC	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"Glutathione S-transferases / Microsomal"	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.406G>A	12.37:g.16516913G>A	ENSP00000379512:p.Val136Ile	Somatic	0	125	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K533|G5EA53	Missense_Mutation	SNP							pfam_Membr-assoc_MAPEG	p.V136I	ENST00000396209.1	37	c.406	CCDS8677.1	12	.	.	.	.	.	.	.	.	.	.	G	4.536	0.099489	0.08681	0.0	1.16E-4	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.33	-2.09	0.07232	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.838598	0.10980	N	0.612773	T	0.35770	0.0943	N	0.26092	0.79	0.19575	N	0.999964	B	0.02656	0.0	B	0.11329	0.006	T	0.31558	-0.9939	10	0.07482	T	0.82	-24.3334	8.6247	0.33881	0.4179:0.0954:0.4867:0.0	.	136	P10620	MGST1_HUMAN	I	136;100;136;136;136	ENSP00000010404:V136I;ENSP00000442767:V100I;ENSP00000379513:V136I;ENSP00000379512:V136I;ENSP00000379510:V136I	ENSP00000010404:V136I	V	+	1	0	MGST1	16408180	0.021000	0.18746	0.616000	0.29078	0.053000	0.15095	-0.019000	0.12546	-0.598000	0.05806	-0.797000	0.03246	GTT	-	pfam_Membr-assoc_MAPEG		0.413	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST1	protein_coding	OTTHUMT00000401189.1	G	NM_145791	-		16516913	1	no_errors	ENST00000010404	ensembl	human	known	74_37	missense	SNP	0.312	A	A	16516913	G	A	16516913	3	1	18	1	0	0	0	0	1	0	0	0	9562	1377	48	2	416	2	MGST1	12	16516913	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		16516913	117334982	63	1250											
DHH	50846	genome.wustl.edu	37	chr12	49488079	49488079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgaggtcccggaagcGctcggagccccttgccaccc	14	17	0	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:49488079G>T	ENST00000266991.2	-	1	523	c.217C>A	c.(217-219)Cgc>Agc	p.R73S	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	73					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						TCCCGGAAGCGCTCGGAGCCC	0.652																																																	0								ENSG00000139549						71	69	70					12																	49488079		2203	4300	6503	DHH	SO:0001583	missense	0			-	HGNC	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.217C>A	12.37:g.49488079G>T	ENSP00000266991:p.Arg73Ser	Somatic	0	32	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q15794	Missense_Mutation	SNP							pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.R73S	ENST00000266991.2	37	c.217	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	g	23.3	4.402951	0.83230	.	.	ENSG00000139549	ENST00000266991	D	0.99488	-6.0	5.44	5.44	0.79542	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.054750	0.64402	D	0.000001	D	0.99432	0.9799	M	0.89968	3.075	0.47308	D	0.999385	D	0.64830	0.994	P	0.57620	0.824	D	0.98452	1.0592	10	0.87932	D	0	-11.3725	13.1172	0.59307	0.0:0.0:0.8395:0.1605	.	73	O43323	DHH_HUMAN	S	73	ENSP00000266991:R73S	ENSP00000266991:R73S	R	-	1	0	DHH	47774346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.703000	0.37846	2.570000	0.86706	0.552000	0.68991	CGC	-	pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog		0.652	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	protein_coding	OTTHUMT00000408973.1	G	NM_021044	-		49488079	-1	no_errors	ENST00000266991	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49488079	G	T	49488079	3	4	18	1	0	0	0	0	1	0	0	0	4485	1087	38	3	985	3	DHH	12	49488079	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	32971166	49488079	84363816	64	1251											
KIAA0748	9840	genome.wustl.edu	37	chr12	55360979	55360979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacttaccctccgctcccaGggtcaagtcatcttcaaagc	6	17	4	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:55360979G>T	ENST00000449076.1	-	5	430	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TESPA1_ENST00000316577.8_Missense_Mutation_p.L100M|TESPA1_ENST00000524622.1_De_novo_Start_InFrame|TESPA1_ENST00000531122.1_De_novo_Start_InFrame|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_De_novo_Start_InFrame	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	100					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCCGCTCCCAGGGTCAAGTCA	0.468																																																	0								ENSG00000135426						70	69	70					12																	55360979		1953	4143	6096	TESPA1	SO:0001583	missense	0			-	HGNC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.298C>A	12.37:g.55360979G>T	ENSP00000400892:p.Leu100Met	Somatic	0	45	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP							NULL	p.L100M	ENST00000449076.1	37	c.298	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612063	0.66672	.	.	ENSG00000135426	ENST00000449076;ENST00000316577	T;T	0.73363	-0.74;-0.74	4.94	4.03	0.46877	.	.	.	.	.	D	0.82300	0.5007	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83355	-0.0001	9	0.72032	D	0.01	.	11.956	0.52981	0.0917:0.0:0.9083:0.0	.	100	A2RU30	K0748_HUMAN	M	100	ENSP00000400892:L100M;ENSP00000312679:L100M	ENSP00000312679:L100M	L	-	1	2	KIAA0748	53647246	1.000000	0.71417	0.706000	0.30403	0.904000	0.53231	4.641000	0.61375	2.462000	0.83206	0.650000	0.86243	CTG	-	NULL		0.468	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	protein_coding	OTTHUMT00000383822.1	G	NM_001098815	-		55360979	-1	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	SNP	0.945	T	T	55360979	G	T	55360979	3	4	18	1	0	0	0	0	1	0	0	0	8192	991	35	3	1291	3	KIAA0748	12	55360979	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	5872900	55360979	78490916	65	1252											
DPY19L2	283417	genome.wustl.edu	37	chr12	64057604	64057605	+	Frame_Shift_Del	DEL	AA	AA	-													gagaaatgacgatcattttcAaaaagtgttactaaatgtaa							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:64057604_64057605delAA	ENST00000324472.4	-	3	566_567	c.383_384delTT	c.(382-384)tttfs	p.F128fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	128					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GATCATTTTCAAAAAGTGTTAC	0.312																																																	0								ENSG00000177990																																			DPY19L2	SO:0001589	frameshift_variant	0				HGNC		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.383_384delTT	12.37:g.64057606_64057607delAA	ENSP00000315988:p.Phe128fs	Somatic	0	64	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Frame_Shift_Del	DEL							pfam_Dpy-19	p.F128fs	ENST00000324472.4	37	c.384_383	CCDS31851.1	12																																																																																			-	pfam_Dpy-19		0.312	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	protein_coding	OTTHUMT00000400689.2	AA	NM_173812			64057605	-1	no_errors	ENST00000324472	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	64057605	AA	-	64057604	7	5	18	1	0	1	0	1	0	0	0	0	4743	127	5	0	1972	0	DPY19L2	12	64057604	Frame_Shift_Del	DEL	AA	TCGA-3R-A8YX-01A-11D-A37C-09	8696625	64057604	69794291	66	1253											
FRS2	10818	genome.wustl.edu	37	chr12	69964267	69964267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcgaatctcttttcttttGaaagtggtcgaaggtgtcaa	9	7	3	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:69964267G>A	ENST00000550389.1	+	4	469	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FRS2_ENST00000549921.1_Missense_Mutation_p.E75K|FRS2_ENST00000299293.2_Missense_Mutation_p.E75K|FRS2_ENST00000397997.2_Missense_Mutation_p.E75K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	75	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTTTTCTTTTGAAAGTGGTCG	0.383																																																	0								ENSG00000166225						105	95	98					12																	69964267		1920	4119	6039	FRS2	SO:0001583	missense	0			-	HGNC	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.223G>A	12.37:g.69964267G>A	ENSP00000447241:p.Glu75Lys	Somatic	0	63	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	280	9.97	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E75K	ENST00000550389.1	37	c.223	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.039405	0.97226	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000550937;ENST00000397997;ENST00000551325	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.65	5.65	0.86999	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	9	.	.	.	-21.0459	19.7056	0.96070	0.0:0.0:1.0:0.0	.	75	Q8WU20	FRS2_HUMAN	K	75	ENSP00000299293:E75K;ENSP00000450048:E75K;ENSP00000447241:E75K;ENSP00000447804:E75K;ENSP00000381083:E75K;ENSP00000449432:E75K	.	E	+	1	0	FRS2	68250534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.808000	0.99193	2.659000	0.90383	0.462000	0.41574	GAA	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.383	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	protein_coding	OTTHUMT00000403760.1	G	NM_006654	-		69964267	1	no_errors	ENST00000299293	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69964267	G	A	69964267	3	1	18	1	0	0	0	0	1	0	0	0	6063	1291	45	2	229	2	FRS2	12	69964267	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	5906663	69964267	63887628	67	1254											
GLIPR1L1	256710	genome.wustl.edu	37	chr12	75728540	75728540	+	Nonsense_Mutation	SNP	G	G	A													gaataaattcagttgtttatGgatcttgggtctgtgtttgg							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:75728540G>A	ENST00000378695.4	+	1	122	c.32G>A	c.(31-33)tGg>tAg	p.W11*	GLIPR1L1_ENST00000312442.2_Nonsense_Mutation_p.W11*|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	11					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGTTGTTTATGGATCTTGGGT	0.493											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000173401						141	137	139					12																	75728540		2203	4300	6503	GLIPR1L1	SO:0001587	stop_gained	0			-	HGNC	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.32G>A	12.37:g.75728540G>A	ENSP00000367967:p.Trp11*	Somatic	0	79	0	1162	0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	136	22.29	Q96L06	Nonsense_Mutation	SNP							pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.W11*	ENST00000378695.4	37	c.32		12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031109	0.93575	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	14.7828	0.69779	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000310770:W11X	W	+	2	0	GLIPR1L1	74014807	0.999000	0.42202	0.612000	0.29024	0.027000	0.11550	2.075000	0.41538	2.225000	0.72522	0.563000	0.77884	TGG	-	NULL		0.493	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	protein_coding	OTTHUMT00000405714.1	G	NM_152779	-		75728540	1	no_errors	ENST00000378695	ensembl	human	known	74_37	nonsense	SNP	0.980	A	A	75728540	G	A	75728540	4	1	18	1	0	0	0	0	0	1	0	0	6444	1357	47	2	34	2	GLIPR1L1	12	75728540	Nonsense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	5764273	75728540	58123355	68	1255	16	2									
GLIPR1L1	256710	genome.wustl.edu	37	chr12	75728541	75728541	+	Missense_Mutation	SNP	G	G	T													aataaattcagttgtttatgGatcttgggtctgtgtttggt							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:75728541G>T	ENST00000378695.4	+	1	123	c.33G>T	c.(31-33)tgG>tgT	p.W11C	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.W11C|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	11					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						GTTGTTTATGGATCTTGGGTC	0.498											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000173401						142	138	139					12																	75728541		2203	4300	6503	GLIPR1L1	SO:0001583	missense	0			-	HGNC	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.33G>T	12.37:g.75728541G>T	ENSP00000367967:p.Trp11Cys	Somatic	0	78	0	1162	0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	136	21.84	Q96L06	Missense_Mutation	SNP							pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.W11C	ENST00000378695.4	37	c.33		12	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097339	0.56075	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.08458	3.12;3.09	4.81	4.81	0.61882	CAP domain (1);	0.000000	0.64402	D	0.000001	T	0.18718	0.0449	L	0.36672	1.1	0.53005	D	0.999966	D;D	0.76494	0.999;0.999	P;D	0.66847	0.894;0.947	T	0.00728	-1.1591	10	0.51188	T	0.08	.	14.7828	0.69779	0.0:0.0:1.0:0.0	.	11;11	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	C	11	ENSP00000367967:W11C;ENSP00000310770:W11C	ENSP00000310770:W11C	W	+	3	0	GLIPR1L1	74014808	0.998000	0.40836	0.587000	0.28692	0.028000	0.11728	3.171000	0.50824	2.225000	0.72522	0.563000	0.77884	TGG	-	NULL		0.498	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	protein_coding	OTTHUMT00000405714.1	G	NM_152779	-		75728541	1	no_errors	ENST00000378695	ensembl	human	known	74_37	missense	SNP	0.964	T	T	75728541	G	T	75728541	3	4	18	1	0	0	0	0	1	0	0	0	6444	1183	41	3	35	3	GLIPR1L1	12	75728541	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	1	75728541	58123354	69	1256	16	2									
KCTD10	83892	genome.wustl.edu	37	chr12	109895815	109895816	+	Frame_Shift_Del	DEL	AA	AA	-													accttatttgaagtcgctatAagtttttgttcttccttgga							TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:109895815_109895816delAA	ENST00000228495.6	-	4	736_737	c.455_456delTT	c.(454-456)cttfs	p.L152fs	KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000540411.1_Frame_Shift_Del_p.L149fs	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	152					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AAGTCGCTATAAGTTTTTGTTC	0.396																																																	0								ENSG00000110906																																			KCTD10	SO:0001589	frameshift_variant	0				HGNC	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.455_456delTT	12.37:g.109895815_109895816delAA	ENSP00000228495:p.Leu152fs	Somatic	0	70	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Frame_Shift_Del	DEL							pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L152fs	ENST00000228495.6	37	c.456_455	CCDS9128.1	12																																																																																			-	NULL		0.396	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	protein_coding	OTTHUMT00000403099.1	AA	NM_031954			109895816	-1	no_errors	ENST00000228495	ensembl	human	known	74_37	frame_shift_del	DEL	0.921:1.000	-	-	109895816	AA	-	109895815	7	5	18	1	0	1	0	1	0	0	0	0	8099	349	13	0	501	0	KCTD10	12	109895815	Frame_Shift_Del	DEL	AA	TCGA-3R-A8YX-01A-11D-A37C-09	34167274	109895815	23956080	70	1257											
GCN1L1	10985	genome.wustl.edu	37	chr12	120569000	120569000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccttaccctgtccgccgTggcactgctcaggatcattt	9	14	2	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:120569000T>C	ENST00000300648.6	-	55	7564	c.7552A>G	c.(7552-7554)Acg>Gcg	p.T2518A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2518					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)					CTGTCCGCCGTGGCACTGCTC	0.592																																																	0								ENSG00000089154						74	79	78					12																	120569000		2113	4216	6329	GCN1L1	SO:0001583	missense	0			-	HGNC	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.7552A>G	12.37:g.120569000T>C	ENSP00000300648:p.Thr2518Ala	Somatic	0	64	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP							pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T2518A	ENST00000300648.6	37	c.7552	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	5.235	0.228807	0.09916	.	.	ENSG00000089154	ENST00000300648	T	0.32515	1.45	5.04	0.283	0.15696	Armadillo-type fold (1);	0.500789	0.20576	N	0.089633	T	0.13884	0.0336	N	0.24115	0.695	0.42596	D	0.993267	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.06757	T	0.87	-0.9807	5.8908	0.18911	0.0:0.4311:0.1465:0.4224	.	2518	Q92616	GCN1L_HUMAN	A	2518	ENSP00000300648:T2518A	ENSP00000300648:T2518A	T	-	1	0	GCN1L1	119053383	0.584000	0.26766	0.885000	0.34714	0.854000	0.48673	0.749000	0.26320	0.085000	0.17107	0.528000	0.53228	ACG	-	superfamily_ARM-type_fold		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	T		-		120569000	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	SNP	0.978	C	C	120569000	T	C	120569000	3	2	18	1	0	0	0	0	1	0	0	0	6301	1696	59	5	479	5	GCN1L1	12	120569000	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	10673185	120569000	13282895	71	1258											
PABPC3	5042	genome.wustl.edu	37	chr13	25671937	25671937	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagcttgctgttcatgTacaaggtcaggaaactttga	10	8	2	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr13:25671937T>A	ENST00000281589.3	+	1	1638	c.1601T>A	c.(1600-1602)gTa>gAa	p.V534E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	534					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)		GCTGTTCATGTACAAGGTCAG	0.483																																																	0								ENSG00000151846						99	91	94					13																	25671937		2203	4300	6503	PABPC3	SO:0001583	missense	0			-	HGNC	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.1601T>A	13.37:g.25671937T>A	ENSP00000281589:p.Val534Glu	Somatic	0	95	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	14	65.91	Q8NHV0|Q9H086	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.V534E	ENST00000281589.3	37	c.1601	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	T	5.791	0.330283	0.10956	.	.	ENSG00000151846	ENST00000281589	T	0.46063	0.88	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.40385	U	0.001109	T	0.35278	0.0926	M	0.78456	2.415	0.50039	D	0.999841	B	0.10296	0.003	B	0.15052	0.012	T	0.10405	-1.0631	10	0.11794	T	0.64	.	5.8995	0.18957	0.0:0.0:0.0:1.0	.	534	Q9H361	PABP3_HUMAN	E	534	ENSP00000281589:V534E	ENSP00000281589:V534E	V	+	2	0	PABPC3	24569937	1.000000	0.71417	0.989000	0.46669	0.057000	0.15508	5.455000	0.66658	0.632000	0.30432	0.260000	0.18958	GTA	-	superfamily_PABP_HYD,tigrfam_PABP_1234		0.483	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	protein_coding	OTTHUMT00000044220.2	T	NM_030979	-		25671937	1	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25671937	T	A	25671937	3	1	18	1	0	0	0	0	1	0	0	0	11367	1638	57	5	1603	5	PABPC3	13	25671937	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09		25671937	89497941	72	1259											
CDH24	64403	genome.wustl.edu	37	chr14	23517654	23517654	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accatcagtgcttcttgcttCtgccgccgcagggccacgaa	10	15	3	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:23517654C>A	ENST00000267383.5	-	12	2087	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	CDH24_ENST00000397359.3_Missense_Mutation_p.Q665H|CDH24_ENST00000554034.1_Missense_Mutation_p.Q627H|CDH24_ENST00000487137.2_Missense_Mutation_p.Q627H|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	665					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)			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)		CTTCTTGCTTCTGCCGCCGCA	0.682																																																	0								ENSG00000139880						57	61	59					14																	23517654		2203	4296	6499	CDH24	SO:0001583	missense	0			-	HGNC	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.1995G>T	14.37:g.23517654C>A	ENSP00000267383:p.Gln665His	Somatic	0	44	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q665H	ENST00000267383.5	37	c.1995	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	C	3.520	-0.097983	0.07010	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.59	3.7	0.42460	Cadherin, cytoplasmic domain (1);	0.073318	0.56097	D	0.000028	T	0.60830	0.2299	N	0.12663	0.25	0.39948	D	0.974491	B;P	0.35411	0.125;0.5	B;B	0.41813	0.046;0.367	T	0.54016	-0.8356	10	0.17832	T	0.49	.	6.8995	0.24275	0.1724:0.7358:0.0:0.0918	.	627;665	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	H	665;627;160;627;665	ENSP00000380517:Q665H;ENSP00000434821:Q627H;ENSP00000452493:Q627H;ENSP00000267383:Q665H	ENSP00000267383:Q665H	Q	-	3	2	CDH24	22587494	0.893000	0.30496	1.000000	0.80357	0.625000	0.37756	0.097000	0.15168	0.925000	0.37094	0.591000	0.81541	CAG	-	pfam_Cadherin_cytoplasmic-dom		0.682	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	protein_coding	OTTHUMT00000257241.2	C	NM_022478	-		23517654	-1	no_errors	ENST00000267383	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23517654	C	A	23517654	3	1	18	1	0	0	0	0	1	0	0	0	3111	912	32	3	468	3	CDH24	14	23517654	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		23517654	83831886	73	1260											
MYH7	4625	genome.wustl.edu	37	chr14	23898537	23898537	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgagttcagccccatgagGtaggcagacttgtcagcctc	12	12	2	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:23898537G>T	ENST00000355349.3	-	13	1320	c.1158C>A	c.(1156-1158)taC>taA	p.Y386*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	386	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCCCATGAGGTAGGCAGACT	0.562																																																	0								ENSG00000092054						85	74	78					14																	23898537		2203	4300	6503	MYH7	SO:0001587	stop_gained	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1158C>A	14.37:g.23898537G>T	ENSP00000347507:p.Tyr386*	Somatic	0	35	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y386*	ENST00000355349.3	37	c.1158	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	g	38	6.722127	0.97788	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	4.04	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5476	0.50702	0.088:0.0:0.912:0.0	.	.	.	.	X	386	.	ENSP00000347507:Y386X	Y	-	3	2	MYH7	22968377	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.825000	0.48096	0.902000	0.36520	0.455000	0.32223	TAC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	G	NM_000257	-		23898537	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	23898537	G	T	23898537	4	4	18	1	0	0	0	0	0	1	0	0	10041	1256	44	3	4761	3	MYH7	14	23898537	Nonsense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	380883	23898537	83451003	74	1261											
RAGE	5891	genome.wustl.edu	37	chr14	102718302	102718303	+	Frame_Shift_Ins	INS	-	-	T													ctggtacatatagtgcataaINStttttttttctgataatggg					rs145834415	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:102718302_102718303insT	ENST00000361847.2	-	5	544_545	c.313_314insA	c.(313-315)attfs	p.I105fs	MOK_ENST00000524214.1_Frame_Shift_Ins_p.I75fs|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Frame_Shift_Ins_p.I105fs	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	105	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)										ATAGTGCATAATTTTTTTTTCT	0.322																																																	0								ENSG00000080823																																			MOK	SO:0001589	frameshift_variant	0				HGNC	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.314dupA	14.37:g.102718311_102718311dupT	ENSP00000355304:p.Ile105fs	Somatic	0	34	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I105fs	ENST00000361847.2	37	c.314_313	CCDS9971.1	14																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.322	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	protein_coding	OTTHUMT00000380848.3	-				102718303	-1	no_errors	ENST00000361847	ensembl	human	known	74_37	frame_shift_ins	INS	0.044:0.007	T	T	102718303	-	T	102718302	7	5	18	1	0	1	1	0	0	0	0	0	13014	101	4	0	977	0	RAGE	14	102718302	Frame_Shift_Ins	INS	-	TCGA-3R-A8YX-01A-11D-A37C-09	78819765	102718302	4631238	75	1262											
PLD4	122618	genome.wustl.edu	37	chr14	105398613	105398613	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagtcttcatcgtgccGgtggggaaccattccaacat	10	10	2	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:105398613G>T	ENST00000392593.4	+	10	1410	c.1242G>T	c.(1240-1242)ccG>ccT	p.P414P	PLD4_ENST00000553861.1_5'UTR|PLD4_ENST00000540372.1_Silent_p.P421P	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	414					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			TCATCGTGCCGGTGGGGAACC	0.622																																																	0								ENSG00000166428						47	53	51					14																	105398613		2101	4215	6316	PLD4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1242G>T	14.37:g.105398613G>T		Somatic	0	107	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	Q6UWD2	Silent	SNP							pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.P414	ENST00000392593.4	37	c.1242	CCDS9995.2	14																																																																																			-	NULL		0.622	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	protein_coding	OTTHUMT00000291348.2	G	NM_138790	-		105398613	1	no_errors	ENST00000392593	ensembl	human	known	74_37	silent	SNP	0.017	T	T	105398613	G	T	105398613	2	4	18	1	0	0	0	0	0	0	0	1	12050	1103	39	3		3	PLD4	14	105398613	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	2680311	105398613	1950927	76	1263											
DAPK2	23604	genome.wustl.edu	37	chr15	64204333	64204333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgcggacatactgctTcctgaagttctccagattga	9	13	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr15:64204333T>C	ENST00000457488.1	-	10	952	c.922A>G	c.(922-924)Aag>Gag	p.K308E	DAPK2_ENST00000261891.3_Missense_Mutation_p.K308E	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	308	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACATACTGCTTCCTGAAGTTC	0.627																																																	0								ENSG00000035664						75	60	65					15																	64204333		2203	4300	6503	DAPK2	SO:0001583	missense	0			-	HGNC	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.922A>G	15.37:g.64204333T>C	ENSP00000408277:p.Lys308Glu	Somatic	0	70	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K308E	ENST00000457488.1	37	c.922	CCDS10188.1	15	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811318	0.70797	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.69040	-0.37;-0.37	5.15	5.15	0.70609	Protein kinase-like domain (1);	0.093975	0.41001	D	0.000963	T	0.60779	0.2295	L	0.55481	1.735	0.42665	D	0.993493	P	0.34757	0.467	B	0.32677	0.15	T	0.64601	-0.6369	10	0.52906	T	0.07	.	12.3647	0.55222	0.0:0.0:0.0:1.0	.	308	Q9UIK4	DAPK2_HUMAN	E	308	ENSP00000261891:K308E;ENSP00000408277:K308E	ENSP00000261891:K308E	K	-	1	0	DAPK2	61991386	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.588000	0.60999	1.940000	0.56252	0.496000	0.49642	AAG	-	superfamily_Kinase-like_dom		0.627	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	protein_coding	OTTHUMT00000256479.1	T	NM_014326	-		64204333	-1	no_errors	ENST00000261891	ensembl	human	known	74_37	missense	SNP	1.000	C	C	64204333	T	C	64204333	3	2	18	1	0	0	0	0	1	0	0	0	4238	1792	62	5	202	5	DAPK2	15	64204333	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09		64204333	38327059	77	1264											
GRAMD2	196996	genome.wustl.edu	37	chr15	72459382	72459382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccattgggaaggagccGtgccatcttgtgttttttga	12	8	1	1	rs141536149	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr15:72459382G>A	ENST00000309731.7	-	6	437	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	142						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGAAGGAGCCGTGCCATCTTG	0.572																																																	0								ENSG00000175318	G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	201	142	162		424	3.5	0.8	15	dbSNP_134	162	2,8592	2.2+/-6.3	0,2,4295	yes	missense	GRAMD2	NM_001012642.2	101	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	142/355	72459382	3,12989	2199	4297	6496	GRAMD2	SO:0001583	missense	0			-	HGNC	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.424C>T	15.37:g.72459382G>A	ENSP00000311657:p.Arg142Trp	Somatic	0	93	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	B3KT68	Missense_Mutation	SNP							pfam_GRAM,smart_GRAM	p.R142W	ENST00000309731.7	37	c.424	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924437	0.73213	2.27E-4	2.33E-4	ENSG00000175318	ENST00000309731	T	0.35048	1.33	5.62	3.55	0.40652	.	0.054690	0.85682	D	0.000000	T	0.41581	0.1165	N	0.22421	0.69	0.43617	D	0.995997	D	0.89917	1.0	D	0.78314	0.991	T	0.19745	-1.0296	10	0.37606	T	0.19	.	10.484	0.44711	0.0769:0.0:0.7817:0.1414	.	142	Q8IUY3	GRAM2_HUMAN	W	142	ENSP00000311657:R142W	ENSP00000311657:R142W	R	-	1	2	GRAMD2	70246436	1.000000	0.71417	0.839000	0.33178	0.995000	0.86356	3.951000	0.56684	1.376000	0.46267	0.561000	0.74099	CGG	-	NULL		0.572	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	protein_coding	OTTHUMT00000420040.1	G	NM_001012642	rs141536149		72459382	-1	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	SNP	0.731	A	A	72459382	G	A	72459382	3	1	18	1	0	0	0	0	1	0	0	0	6752	1144	40	1	668	1	GRAMD2	15	72459382	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	8255049	72459382	30072010	78	1265											
FAM65A	79567	genome.wustl.edu	37	chr16	67578910	67578910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaccttctgggaccagtGcacagagagactcagctgct	11	13	2	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr16:67578910G>A	ENST00000379312.3	+	17	3054	c.2933G>A	c.(2932-2934)tGc>tAc	p.C978Y	FAM65A_ENST00000042381.4_Missense_Mutation_p.C974Y|FAM65A_ENST00000428437.2_Missense_Mutation_p.C988Y|FAM65A_ENST00000540839.3_Missense_Mutation_p.C993Y|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.C994Y	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	978						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)		TGGGACCAGTGCACAGAGAGA	0.632																																																	0								ENSG00000039523						147	148	147					16																	67578910		2198	4300	6498	FAM65A	SO:0001583	missense	0			-	HGNC	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.2933G>A	16.37:g.67578910G>A	ENSP00000368614:p.Cys978Tyr	Somatic	0	54	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP							superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.C994Y	ENST00000379312.3	37	c.2981	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264689	0.59431	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	D;D;D	0.85484	-1.99;-1.99;-1.99	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.77820	2.39	0.47778	D	0.999519	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.93134	0.6535	10	0.87932	D	0	-12.7619	17.4594	0.87616	0.0:0.0:1.0:0.0	.	988;994;978	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	Y	978;974;994;988	ENSP00000368614:C978Y;ENSP00000042381:C974Y;ENSP00000400099:C994Y	ENSP00000042381:C974Y	C	+	2	0	FAM65A	66136411	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.247000	0.78257	2.567000	0.86603	0.655000	0.94253	TGC	-	NULL		0.632	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	G	NM_024519	-		67578910	1	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67578910	G	A	67578910	3	1	18	1	0	0	0	0	1	0	0	0	5601	1319	46	2	2983	2	FAM65A	16	67578910	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		67578910	22775843	79	1266											
ALOX12B	242	genome.wustl.edu	37	chr17	7983209	7983209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggggttgacgccgttgaGgtactggtacccaaagaagg	16	9	0	3	rs532842455		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:7983209G>T	ENST00000319144.4	-	7	1065	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	269	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACGCCGTTGAGGTACTGGTAC	0.677										Multiple Myeloma(8;0.094)																																							0								ENSG00000179477						37	36	36					17																	7983209		2203	4300	6503	ALOX12B	SO:0001583	missense	0			-	HGNC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.805C>A	17.37:g.7983209G>T	ENSP00000315167:p.Leu269Ile	Somatic	0	59	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.L269I	ENST00000319144.4	37	c.805	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532480	0.85812	.	.	ENSG00000179477	ENST00000319144	D	0.95171	-3.63	4.35	4.35	0.52113	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.76002	2.32	0.45139	D	0.998159	D	0.89917	1.0	D	0.97110	1.0	D	0.95971	0.8970	10	0.72032	D	0.01	-30.3989	9.9206	0.41462	0.0965:0.0:0.9035:0.0	.	269	O75342	LX12B_HUMAN	I	269	ENSP00000315167:L269I	ENSP00000315167:L269I	L	-	1	0	ALOX12B	7923934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.416000	0.59815	2.442000	0.82660	0.555000	0.69702	CTC	-	pfam_LipOase_C,superfamily_LipOase_C		0.677	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	protein_coding	OTTHUMT00000226984.3	G		-		7983209	-1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7983209	G	T	7983209	3	4	18	1	0	0	0	0	1	0	0	0	537	1000	35	3	1336	3	ALOX12B	17	7983209	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		7983209	73212001	80	1267											
GALK1	2584	genome.wustl.edu	37	chr17	73759480	73759480	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccaccccccaggggcacTgagctgaccaccactgcact	10	18	0	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:73759480T>G	ENST00000588479.1	-	3	970	c.396A>C	c.(394-396)tcA>tcC	p.S132S	GALK1_ENST00000225614.2_Silent_p.S132S|GALK1_ENST00000437911.1_Silent_p.S162S			P51570	GALK1_HUMAN	galactokinase 1	132					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGGGGCACTGAGCTGACCA	0.642																																																	0								ENSG00000108479						33	26	28					17																	73759480		2203	4300	6503	GALK1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.396A>C	17.37:g.73759480T>G		Somatic	0	78	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	57	27.85	B2RC07|B4E1G6	Silent	SNP							pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.S162	ENST00000588479.1	37	c.486	CCDS11728.1	17																																																																																			-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase		0.642	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	protein_coding	OTTHUMT00000448430.1	T		-		73759480	-1	no_errors	ENST00000437911	ensembl	human	known	74_37	silent	SNP	0.994	G	G	73759480	T	G	73759480	2	3	18	1	0	0	0	0	0	0	0	1	6205	1567	55	5		5	GALK1	17	73759480	Silent	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	65776271	73759480	7435730	81	1268											
PGS1	9489	genome.wustl.edu	37	chr17	76399989	76399989	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcactcgggctgagtaccaGatcctgctggcctcaccaga	12	14	1	3			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:76399989G>T	ENST00000262764.6	+	7	1247	c.1221G>T	c.(1219-1221)caG>caT	p.Q407H	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.Q272H	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	407					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGAGTACCAGATCCTGCTGG	0.617																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000087157						76	79	78					17																	76399989		1987	4144	6131	PGS1	SO:0001583	missense	0			-	HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1221G>T	17.37:g.76399989G>T	ENSP00000262764:p.Gln407His	Somatic	0	73	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP							pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.Q407H	ENST00000262764.6	37	c.1221	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	G	6.649	0.488160	0.12641	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	D;D	0.91577	-2.87;-2.87	5.59	1.14	0.20703	.	0.261386	0.37906	N	0.001881	T	0.69269	0.3092	N	0.01352	-0.895	0.36733	D	0.88182	B	0.06786	0.001	B	0.04013	0.001	T	0.61312	-0.7088	10	0.36615	T	0.2	-22.1451	4.4002	0.11383	0.1429:0.1924:0.5495:0.1153	.	407	Q32NB8	PGPS1_HUMAN	H	407;272	ENSP00000262764:Q407H;ENSP00000330039:Q272H	ENSP00000262764:Q407H	Q	+	3	2	PGS1	73911584	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	0.217000	0.17603	0.722000	0.32252	0.563000	0.77884	CAG	-	pirsf_PLipase-D_PtdSer-synthase-type		0.617	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	protein_coding	OTTHUMT00000437301.1	G	NM_024419	-		76399989	1	no_errors	ENST00000262764	ensembl	human	known	74_37	missense	SNP	0.998	T	T	76399989	G	T	76399989	3	4	18	1	0	0	0	0	1	0	0	0	11810	933	33	3	1247	3	PGS1	17	76399989	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	2640509	76399989	4795221	82	1269											
CARD14	79092	genome.wustl.edu	37	chr17	78169122	78169122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcggggaagaacccTggtctttcaggtagagcact	13	9	2	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:78169122T>C	ENST00000573882.1	+	12	2025	c.1489T>C	c.(1489-1491)Tgg>Cgg	p.W497R	CARD14_ENST00000570421.1_Missense_Mutation_p.W497R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.W497R|CARD14_ENST00000392434.2_Missense_Mutation_p.W260R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	497					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGAAGAACCCTGGTCTTTCAG	0.652																																																	0								ENSG00000141527						38	41	40					17																	78169122		2203	4300	6503	CARD14	SO:0001583	missense	0			-	HGNC	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1489T>C	17.37:g.78169122T>C	ENSP00000458715:p.Trp497Arg	Somatic	0	75	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	79	9.20	B8QQJ3|Q9BVB5	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like	p.W497R	ENST00000573882.1	37	c.1489	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	T	1.339	-0.594696	0.03771	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.24350	1.86;2.54	4.38	2.02	0.26589	.	2.218360	0.01937	N	0.041640	T	0.16171	0.0389	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29508	0.054;0.246;0.022	B;B;B	0.24155	0.007;0.051;0.007	T	0.18366	-1.0339	10	0.13108	T	0.6	-0.64	5.198	0.15249	0.1628:0.0:0.1964:0.6408	.	497;260;497	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	R	497;260;260	ENSP00000344549:W497R;ENSP00000376229:W260R	ENSP00000308507:W260R	W	+	1	0	CARD14	75783717	0.000000	0.05858	0.158000	0.22627	0.249000	0.25844	0.128000	0.15810	0.773000	0.33404	0.533000	0.62120	TGG	-	NULL		0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	protein_coding	OTTHUMT00000437507.1	T		-		78169122	1	no_errors	ENST00000344227	ensembl	human	known	74_37	missense	SNP	0.075	C	C	78169122	T	C	78169122	3	2	18	1	0	0	0	0	1	0	0	0	2648	1580	55	5	1523	5	CARD14	17	78169122	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	1769133	78169122	3026088	83	1270											
RELB	5971	genome.wustl.edu	37	chr19	45506246	45506246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctcgctcgccgtttccaGgagcacaggtgagcagccct	11	15	1	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr19:45506246G>T	ENST00000221452.8	+	2	296	c.146G>T	c.(145-147)aGg>aTg	p.R49M	RELB_ENST00000505236.1_Missense_Mutation_p.R49M|RELB_ENST00000540120.1_Missense_Mutation_p.R49M	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	49	Leucine-zipper.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCGTTTCCAGGAGCACAGGT	0.597																																																	0								ENSG00000104856						40	44	43					19																	45506246		2024	4193	6217	RELB	SO:0001583	missense	0			-	HGNC	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.146G>T	19.37:g.45506246G>T	ENSP00000221452:p.Arg49Met	Somatic	0	47	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q6GTX7|Q9UEI7	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R49M	ENST00000221452.8	37	c.146	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960904	0.53400	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.50813	0.73;0.73;0.8	4.39	4.39	0.52855	.	0.275088	0.26492	N	0.024080	T	0.53786	0.1818	L	0.27053	0.805	0.34899	D	0.74631	D	0.76494	0.999	D	0.74674	0.984	T	0.65340	-0.6192	10	0.66056	D	0.02	-20.9474	12.8224	0.57700	0.0:0.0:1.0:0.0	.	49	D6R992	.	M	49	ENSP00000221452:R49M;ENSP00000445542:R49M;ENSP00000423287:R49M	ENSP00000221452:R49M	R	+	2	0	RELB	50198086	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.233000	0.58651	2.473000	0.83533	0.644000	0.83932	AGG	-	NULL		0.597	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	protein_coding	OTTHUMT00000367361.2	G		-		45506246	1	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45506246	G	T	45506246	3	4	18	1	0	0	0	0	1	0	0	0	13225	1000	35	3	152	3	RELB	19	45506246	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		45506246	13622737	84	1271											
KLC3	147700	genome.wustl.edu	37	chr19	45849840	45849840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacatgtgggtgcactggaGgcagagaagcagcggctgcg	18	9	0	1	rs368201163		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr19:45849840G>T	ENST00000391946.2	+	3	399	c.297G>T	c.(295-297)gaG>gaT	p.E99D	KLC3_ENST00000470402.1_Missense_Mutation_p.E113D|KLC3_ENST00000585434.1_Missense_Mutation_p.E99D	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	99					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTGCACTGGAGGCAGAGAAGC	0.716																																																	0								ENSG00000104892						6	9	8					19																	45849840		1884	3874	5758	KLC3	SO:0001583	missense	0			-	HGNC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.297G>T	19.37:g.45849840G>T	ENSP00000375810:p.Glu99Asp	Somatic	0	26	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	4	80.00	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP							pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E113D	ENST00000391946.2	37	c.339	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925470	0.73213	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.48522	0.81;0.81	3.77	3.77	0.43336	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000002	T	0.52709	0.1751	N	0.25485	0.75	0.58432	D	0.999998	D;D;D	0.67145	0.99;0.996;0.992	D;D;D	0.77004	0.98;0.986;0.989	T	0.49399	-0.8944	10	0.32370	T	0.25	-12.4471	13.4628	0.61237	0.0:0.0:1.0:0.0	.	99;113;99	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	D	99;113	ENSP00000375810:E99D;ENSP00000436019:E113D	ENSP00000375810:E99D	E	+	3	2	KLC3	50541680	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.126000	0.42026	2.113000	0.64589	0.455000	0.32223	GAG	-	pfam_Rabaptin_Rab5-bd_dom		0.716	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	protein_coding	OTTHUMT00000289776.1	G	NM_145275	-		45849840	1	no_errors	ENST00000470402	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45849840	G	T	45849840	3	4	18	1	0	0	0	0	1	0	0	0	8337	991	35	3	303	3	KLC3	19	45849840	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	343594	45849840	13279143	85	1272											
PRMT1	3276	genome.wustl.edu	37	chr19	50185281	50185281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggcaccggcatcctcTgcatgtttgctgccaaggcc	12	15	1	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr19:50185281T>C	ENST00000391851.4	+	3	382	c.253T>C	c.(253-255)Tgc>Cgc	p.C85R	PRMT1_ENST00000532489.1_Missense_Mutation_p.C57R|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000454376.2_Missense_Mutation_p.C103R	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	93	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CGGCATCCTCTGCATGTTTGC	0.657																																																	0								ENSG00000126457						44	44	44					19																	50185281		2203	4300	6503	PRMT1	SO:0001583	missense	0			-	HGNC	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.253T>C	19.37:g.50185281T>C	ENSP00000375724:p.Cys85Arg	Somatic	0	90	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP							pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.C103R	ENST00000391851.4	37	c.307	CCDS42592.1	19	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775091	0.49786	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	T;T;T;T;T;T;T;T;T	0.76060	1.94;1.94;1.94;1.94;1.94;1.94;-0.99;1.94;-0.99	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.67145	0.996;0.972;0.989;0.98	D;P;P;P	0.66979	0.948;0.858;0.827;0.76	D	0.89226	0.3574	10	0.87932	D	0	0.0031	12.7696	0.57412	0.0:0.0:0.0:1.0	.	93;57;85;79	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	R	57;57;57;57;85;79;103;79;57;82	ENSP00000432349:C57R;ENSP00000433556:C57R;ENSP00000432538:C57R;ENSP00000431957:C57R;ENSP00000375724:C85R;ENSP00000406162:C103R;ENSP00000437273:C79R;ENSP00000432788:C57R;ENSP00000436732:C82R	ENSP00000375724:C85R	C	+	1	0	PRMT1	54877093	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	5.882000	0.69714	2.124000	0.65301	0.523000	0.50628	TGC	-	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2		0.657	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT1	protein_coding	OTTHUMT00000395065.1	T	NM_001536	-		50185281	1	no_errors	ENST00000454376	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50185281	T	C	50185281	3	2	18	1	0	0	0	0	1	0	0	0	12540	1580	55	5	321	5	PRMT1	19	50185281	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	4335441	50185281	8943702	86	1273											
SOX12	6666	genome.wustl.edu	37	chr20	307372	307372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccggcctggactgcagCgccctggatcgcgacccgga	15	17	0	0			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr20:307372C>T	ENST00000342665.2	+	1	1134	c.804C>T	c.(802-804)agC>agT	p.S268S	SOX12_ENST00000544632.1_Silent_p.S268S|RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	268					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGGACTGCAGCGCCCTGGATC	0.701																																																	0								ENSG00000177732						18	21	20					20																	307372		2192	4296	6488	SOX12	SO:0001819	synonymous_variant	0			-	HGNC	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.804C>T	20.37:g.307372C>T		Somatic	0	35	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q5D038|Q9NUD4	Silent	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.S268	ENST00000342665.2	37	c.804	CCDS12995.1	20																																																																																			-	pirsf_SOX-12/11/4a		0.701	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	protein_coding	OTTHUMT00000077435.2	C	NM_006943	-		307372	1	no_errors	ENST00000342665	ensembl	human	known	74_37	silent	SNP	1.000	T	T	307372	C	T	307372	2	4	18	1	0	0	0	0	0	0	0	1	14951	767	27	1		1	SOX12	20	307372	Silent	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		307372	62718148	87	1274											
ZNF341	84905	genome.wustl.edu	37	chr20	32346565	32346565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactcaagtgctcatactgTgacaagtcattcaccaaaaa	5	10	4	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr20:32346565T>C	ENST00000375200.1	+	7	1346	c.981T>C	c.(979-981)tgT>tgC	p.C327C	ZNF341_ENST00000342427.2_Silent_p.C320C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	327					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCATACTGTGACAAGTCAT	0.557																																																	0								ENSG00000131061						96	73	81					20																	32346565		2203	4300	6503	ZNF341	SO:0001819	synonymous_variant	0			-	HGNC	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.981T>C	20.37:g.32346565T>C		Somatic	0	41	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C327	ENST00000375200.1	37	c.981		20																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	protein_coding		T		-		32346565	1	no_errors	ENST00000375200	ensembl	human	known	74_37	silent	SNP	1.000	C	C	32346565	T	C	32346565	2	2	18	1	0	0	0	0	0	0	0	1	17864	1702	59	5		5	ZNF341	20	32346565	Silent	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	32039193	32346565	30678955	88	1275											
TRPM2	7226	genome.wustl.edu	37	chr21	45811481	45811481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgaccggctgcggctcctGctgcccgttccccacgtcaa	10	18	1	0	rs374884120		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr21:45811481G>A	ENST00000397928.1	+	11	2212	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L	TRPM2_ENST00000397932.2_Silent_p.L589L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L589L|TRPM2_ENST00000300481.9_Silent_p.L569L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	589					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCGGCTCCTGCTGCCCGTTC	0.647																																																	0								ENSG00000142185						8	10	9					21																	45811481		2060	4096	6156	TRPM2	SO:0001819	synonymous_variant	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1767G>A	21.37:g.45811481G>A		Somatic	0	50	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP							pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.L589	ENST00000397928.1	37	c.1767	CCDS13710.1	21																																																																																			-	NULL		0.647	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	G	NM_003307	-		45811481	1	no_errors	ENST00000300482	ensembl	human	known	74_37	silent	SNP	0.003	A	A	45811481	G	A	45811481	2	1	18	1	0	0	0	0	0	0	0	1	16593	1306	46	2		2	TRPM2	21	45811481	Silent	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		45811481	2318414	89	1276											
PARVB	25813	genome.wustl.edu	37	chr22	44395249	44395249	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgtttaaagatcaccaaaGaggagagaaaaggggattcc	12	5	1	3	rs372081118		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr22:44395249G>T	ENST00000350028.4	+	0	1717				PARVB_ENST00000406477.3_Missense_Mutation_p.R10I	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GATCACCAAAGAGGAGAGAAA	0.363																																																	0								ENSG00000188677						66	62	63					22																	44395249		1829	4092	5921	PARVB	SO:0001628	intergenic_variant	0			-	HGNC	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557		22.37:g.44395249G>T		Somatic	0	77	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R10I	ENST00000350028.4	37	c.29	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539353	0.27475	.	.	ENSG00000188677	ENST00000406477	T	0.36340	1.26	2.15	-2.79	0.05841	.	.	.	.	.	T	0.19565	0.0470	N	0.22421	0.69	0.09310	N	1	B	0.27068	0.167	B	0.24848	0.056	T	0.22347	-1.0219	9	0.87932	D	0	.	3.3491	0.07146	0.4401:0.214:0.3459:0.0	.	10	Q9HBI1-2	.	I	10	ENSP00000384515:R10I	ENSP00000384515:R10I	R	+	2	0	PARVB	42726582	0.043000	0.20138	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	-0.622000	0.05626	-0.903000	0.02851	AGA	-	NULL		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000318898.2	G	NM_015380	-		44395249	1	no_errors	ENST00000406477	ensembl	human	known	74_37	missense	SNP	0.000	T	T	44395249	G	T	44395249	1	4	18	0	1	0	0	0	0	0	0	0	11471	942	33	3		3	PARVB	22	44395249	IGR	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		44395249	6909317	90	1277											
LMF2	91289	genome.wustl.edu	37	chr22	50942780	50942780	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccttacccctgctccccAggctgggagaaccagtactt	9	16	0	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr22:50942780A>C	ENST00000474879.2	-	12	1722	c.1707T>G	c.(1705-1707)ccT>ccG	p.P569P	LMF2_ENST00000380796.3_Silent_p.P456P|LMF2_ENST00000216080.5_Silent_p.P544P|LMF2_ENST00000505981.1_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	569						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGCTCCCCAGGCTGGGAGA	0.687																																																	0								ENSG00000100258						56	50	52					22																	50942780		2201	4300	6501	LMF2	SO:0001819	synonymous_variant	0			-	HGNC	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1707T>G	22.37:g.50942780A>C		Somatic	0	165	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	64	40.54	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP							pfam_LMF	p.P569	ENST00000474879.2	37	c.1707	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	A	3.273	-0.148792	0.06627	.	.	ENSG00000100258	ENST00000487499	.	.	.	5.87	-1.7	0.08159	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39292	-0.9621	4	.	.	.	-15.9744	5.539	0.17028	0.4544:0.2532:0.2924:0.0	.	.	.	.	G	576	.	.	W	-	1	0	LMF2	49289646	0.359000	0.24955	0.916000	0.36221	0.010000	0.07245	0.204000	0.17335	-0.409000	0.07553	-0.242000	0.12053	TGG	-	pfam_LMF		0.687	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	protein_coding	OTTHUMT00000316833.2	A	NM_033200	-		50942780	-1	no_errors	ENST00000474879	ensembl	human	known	74_37	silent	SNP	0.927	C	C	50942780	A	C	50942780	2	2	18	1	0	0	0	0	0	0	0	1	8848	175	7	5		5	LMF2	22	50942780	Silent	SNP	A	TCGA-3R-A8YX-01A-11D-A37C-09	6547531	50942780	361786	91	1278											
DMD	1756	genome.wustl.edu	37	chrX	32407760	32407760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctggtttctggaataatCgaaacttcatggagacatct	10	7	3	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrX:32407760C>T	ENST00000357033.4	-	32	4582	c.4376G>A	c.(4375-4377)cGa>cAa	p.R1459Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1455Q	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	1459	Interaction with SYNM. {ECO:0000250}.				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)				CTGGAATAATCGAAACTTCAT	0.348																																																	0								ENSG00000198947						104	92	96					X																	32407760		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.4376G>A	X.37:g.32407760C>T	ENSP00000354923:p.Arg1459Gln	Somatic	0	35	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	0	100.00	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R1459Q	ENST00000357033.4	37	c.4376	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140583	0.56936	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.15256	2.44;2.44	5.67	4.81	0.61882	.	0.000000	0.31519	U	0.007510	T	0.14917	0.0360	L	0.35723	1.085	0.80722	D	1	D;P;P;P;P	0.55800	0.973;0.73;0.954;0.954;0.954	B;B;B;B;B	0.43950	0.437;0.181;0.253;0.253;0.253	T	0.04650	-1.0936	10	0.10636	T	0.68	.	13.938	0.64036	0.0:0.9251:0.0:0.0749	.	1451;1459;1455;118;115	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	1451;118;115;1455;1459;1459;1336	ENSP00000367948:R1455Q;ENSP00000354923:R1459Q	ENSP00000354923:R1459Q	R	-	2	0	DMD	32317681	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.850000	0.69473	1.157000	0.42530	0.594000	0.82650	CGA	-	pirsf_Dystrophin/utrophin		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	C	NM_004006	-		32407760	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32407760	C	T	32407760	3	4	18	1	0	0	0	0	1	0	0	0	4582	884	31	1	7021	1	DMD	23	32407760	Missense_Mutation	SNP	C	TCGA-3R-A8YX-01A-11D-A37C-09		32407760	122862800	92	1279											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106091430	106091430	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttaggcaatgaatattttGacttcagtgctgcttctata	7	6	2	2			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrX:106091430G>T	ENST00000357242.5	+	11	1908	c.1734G>T	c.(1732-1734)ttG>ttT	p.L578F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L572F|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.L578F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	578	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						TGAATATTTTGACTTCAGTGC	0.308																																																	0								ENSG00000133138						105	94	98					X																	106091430		2202	4300	6502	TBC1D8B	SO:0001583	missense	0			-	HGNC	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.1734G>T	X.37:g.106091430G>T	ENSP00000349781:p.Leu578Phe	Somatic	0	27	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.L578F	ENST00000357242.5	37	c.1734	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159210	0.57368	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.09255	3.0;3.0;3.0	4.34	3.47	0.39725	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000005	T	0.27169	0.0666	M	0.70842	2.15	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00958	-1.1500	10	0.87932	D	0	-7.9276	6.6532	0.22973	0.103:0.1766:0.7204:0.0	.	578;578	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	F	578;578;572	ENSP00000349781:L578F;ENSP00000310675:L578F;ENSP00000276175:L572F	ENSP00000276175:L572F	L	+	3	2	TBC1D8B	105978086	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.981000	0.40628	0.750000	0.32877	0.594000	0.82650	TTG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.308	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	G	NM_017752	-		106091430	1	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	106091430	G	T	106091430	3	4	18	1	0	0	0	0	1	0	0	0	15633	1281	45	3	1776	3	TBC1D8B	23	106091430	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09	73683670	106091430	49179130	93	1280											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299630	125299630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttgagggtgcccaggTccagctggcgctccgtcagc	14	14	1	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrX:125299630T>C	ENST00000360028.2	-	1	304	c.278A>G	c.(277-279)gAc>gGc	p.D93G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.D93G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	93										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGCCCAGGTCCAGCTGGCG	0.677																																																	0								ENSG00000198354						49	45	46					X																	125299630		2203	4300	6503	DCAF12L2	SO:0001583	missense	0			-	HGNC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.278A>G	X.37:g.125299630T>C	ENSP00000353128:p.Asp93Gly	Somatic	0	46	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	B2RN42	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D93G	ENST00000360028.2	37	c.278	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	t	6.087	0.384372	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.32023	1.47;1.47	3.28	-0.877	0.10621	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.16471	0.0396	L	0.29908	0.895	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.31558	-0.9939	9	0.17369	T	0.5	.	3.5739	0.07927	0.2289:0.0:0.2542:0.5169	.	93	Q5VW00	DC122_HUMAN	G	93	ENSP00000441489:D93G;ENSP00000353128:D93G	ENSP00000353128:D93G	D	-	2	0	DCAF12L2	125127311	0.968000	0.33430	0.028000	0.17463	0.838000	0.47535	2.173000	0.42472	-0.358000	0.08162	0.237000	0.17872	GAC	-	superfamily_WD40_repeat_dom		0.677	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	protein_coding	OTTHUMT00000058181.1	T	NM_001013628	-		125299630	-1	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	SNP	0.382	C	C	125299630	T	C	125299630	3	2	18	1	0	0	0	0	1	0	0	0	4267	1667	58	5	1117	5	DCAF12L2	23	125299630	Missense_Mutation	SNP	T	TCGA-3R-A8YX-01A-11D-A37C-09	19208200	125299630	29970930	94	1281											
TBL1Y	90665	genome.wustl.edu	37	chrY	6938362	6938362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctgtcagtgatttgctaGcctctgggtaaggaagtcag	12	9	3	1			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrY:6938362G>T	ENST00000383032.1	+	9	1230	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.A195S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.A195S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGATTTGCTAGCCTCTGGGTA	0.567																																																	0								ENSG00000092377						73	73	73					Y																	6938362		599	1944	2543	TBL1Y	SO:0001583	missense	0			-	HGNC	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"WD repeat domain containing"	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.583G>T	Y.37:g.6938362G>T	ENSP00000372499:p.Ala195Ser	Somatic	0	63	0		0.557332265328442				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A1L4B3	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A195S	ENST00000383032.1	37	c.583	CCDS14779.1	Y																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.567	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1Y	protein_coding	OTTHUMT00000085360.1	G	NM_033284	-		6938362	1	no_errors	ENST00000346432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6938362	G	T	6938362	3	4	18	1	0	0	0	0	1	0	0	0	15648	971	34	3	597	3	TBL1Y	24	6938362	Missense_Mutation	SNP	G	TCGA-3R-A8YX-01A-11D-A37C-09		6938362	52435204	95	1282											
PTPRU	10076	genome.wustl.edu	37	chr1	29587188	29587188	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctacctcatcatccagcTcaacaccaactccatcattg	2	18	4	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:29587188T>A	ENST00000345512.3	+	7	1046	c.917T>A	c.(916-918)cTc>cAc	p.L306H	PTPRU_ENST00000323874.8_Missense_Mutation_p.L306H|PTPRU_ENST00000373779.3_Missense_Mutation_p.L306H|PTPRU_ENST00000428026.2_Missense_Mutation_p.L306H|PTPRU_ENST00000356870.3_Missense_Mutation_p.L306H|PTPRU_ENST00000460170.2_Missense_Mutation_p.L306H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	306	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCATCCAGCTCAACACCAAC	0.677																																																	0								ENSG00000060656						79	74	76					1																	29587188		2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.917T>A	1.37:g.29587188T>A	ENSP00000334941:p.Leu306His	Somatic	0	85	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	66	12.00	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	33	0	0	36	16.28	7	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L306H	ENST00000345512.3	37	c.917	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045018	0.93685	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.73745	0.3626	M	0.83692	2.655	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	0.87578	0.997;0.997;0.997;0.998;0.998	T	0.77227	-0.2665	9	.	.	.	.	14.1051	0.65083	0.0:0.0:0.0:1.0	.	306;306;306;306;306	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	306	ENSP00000334941:L306H;ENSP00000362884:L306H;ENSP00000349333:L306H;ENSP00000314987:L306H;ENSP00000392332:L306H;ENSP00000432906:L306H	.	L	+	2	0	PTPRU	29459775	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.025000	0.88777	1.913000	0.55393	0.379000	0.24179	CTC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	T		-		29587188	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29587188	T	A	29587188	3	1	19	1	0	0	0	0	1	0	0	0	12821	1551	54	5	943	5	PTPRU	1	29587188	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09		29587188	219663433	1	1283											
BSDC1	55108	genome.wustl.edu	37	chr1	32846818	32846818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgctaccctctcaccatCtggttcattacagtaggttg	8	12	3	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:32846818C>T	ENST00000455895.2	-	5	442	c.409G>A	c.(409-411)Gat>Aat	p.D137N	BSDC1_ENST00000341071.7_Missense_Mutation_p.D154N|BSDC1_ENST00000449308.1_Missense_Mutation_p.D137N|BSDC1_ENST00000526031.1_Missense_Mutation_p.D42N|BSDC1_ENST00000419121.2_Missense_Mutation_p.D81N|BSDC1_ENST00000413080.1_Missense_Mutation_p.D137N|BSDC1_ENST00000446293.2_Missense_Mutation_p.D154N	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	137				D -> G (in Ref. 7; AAH26322). {ECO:0000305}.						breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTCACCATCTGGTTCATTA	0.532																																																	0								ENSG00000160058						71	66	68					1																	32846818		2203	4300	6503	BSDC1	SO:0001583	missense	0			-	HGNC	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.409G>A	1.37:g.32846818C>T	ENSP00000412173:p.Asp137Asn	Somatic	0	51	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	40	0	0	40	31.03	18	pfam_BSD,smart_BSD,pfscan_BSD	p.D154N	ENST00000455895.2	37	c.460	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.510510	0.96386	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000325745;ENST00000446293;ENST00000449308;ENST00000527163;ENST00000530485	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	M	0.67953	2.075	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	0.87578	0.996;0.982;0.995;0.995;0.998	T	0.79386	-0.1825	9	0.72032	D	0.01	.	16.8365	0.85958	0.0:1.0:0.0:0.0	.	42;81;154;154;137	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	N	137;137;154;42;81;137;154;137;71;98	.	ENSP00000317670:D137N	D	-	1	0	BSDC1	32619405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.920000	0.75799	2.724000	0.93272	0.563000	0.77884	GAT	-	NULL		0.532	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	protein_coding	OTTHUMT00000020056.3	C	NM_018045	-		32846818	-1	no_errors	ENST00000341071	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32846818	C	T	32846818	3	4	19	1	0	0	0	0	1	0	0	0	1530	913	32	2	911	2	BSDC1	1	32846818	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	3259630	32846818	216403803	2	1284											
TTC39A	22996	genome.wustl.edu	37	chr1	51787459	51787459	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggtccagggcggtcatgCactggtccagggcctcatgg	16	11	2	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:51787459C>G	ENST00000447632.2	-	2	131	c.83G>C	c.(82-84)tGc>tCc	p.C28S	TTC39A_ENST00000262675.7_5'UTR|TTC39A_ENST00000371747.3_Missense_Mutation_p.C27S|TTC39A_ENST00000413473.2_Missense_Mutation_p.C31S|TTC39A_ENST00000262676.5_Missense_Mutation_p.C24S|TTC39A_ENST00000371750.5_Missense_Mutation_p.C28S|TTC39A_ENST00000451380.1_Missense_Mutation_p.C27S			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	28								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGCGGTCATGCACTGGTCCAG	0.637																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)						ENSG00000085831						60	61	61					1																	51787459		1976	4174	6150	TTC39A	SO:0001583	missense	0			-	HGNC	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.83G>C	1.37:g.51787459C>G	ENSP00000393952:p.Cys28Ser	Somatic	0	76	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	26	0	0	46	19.30	11	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.C28S	ENST00000447632.2	37	c.83		1	.	.	.	.	.	.	.	.	.	.	c	17.16	3.317926	0.60524	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000439482;ENST00000401051;ENST00000527205	T;T;T;T;T	0.50277	0.8;0.87;0.87;0.87;0.75	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.34521	1.04	0.51233	D	0.99991	B;B;D;D;B;P	0.89917	0.357;0.243;1.0;0.997;0.243;0.538	B;B;D;D;B;B	0.91635	0.444;0.258;0.999;0.926;0.258;0.351	T	0.54990	-0.8210	10	0.40728	T	0.16	-21.6358	13.2391	0.59987	0.0:1.0:0.0:0.0	.	31;27;24;27;28;28	Q5SRH9-4;E7EQY9;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	S	28;31;27;28;27;24;27;31;55	ENSP00000393952:C28S;ENSP00000406144:C31S;ENSP00000397207:C27S;ENSP00000360815:C28S;ENSP00000360812:C27S	ENSP00000262676:C24S	C	-	2	0	TTC39A	51560047	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	5.492000	0.66893	2.155000	0.67459	0.176000	0.17051	TGC	-	NULL		0.637	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	protein_coding	OTTHUMT00000022434.2	C		-		51787459	-1	no_errors	ENST00000447632	ensembl	human	known	74_37	missense	SNP	1.000	G	G	51787459	C	G	51787459	3	3	19	1	0	0	0	0	1	0	0	0	16714	710	25	4	1721	4	TTC39A	1	51787459	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	18940641	51787459	197463162	3	1285											
USP24	23358	genome.wustl.edu	37	chr1	55589175	55589175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagacaaagcctctccCgcaatcagcgagtctttggt	10	11	3	2	rs145599916		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:55589175C>T	ENST00000294383.6	-	36	4220	c.4221G>A	c.(4219-4221)gcG>gcA	p.A1407A	USP24_ENST00000407756.1_Silent_p.A1247A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1407					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						AAGCCTCTCCCGCAATCAGCG	0.507													C|||	1	0.000199681	0	0	5008	,	,		17947	0		0.001	False		,,,				2504	0																0								ENSG00000162402	C		1,3863		0,1,1931	64	63	63		4221	-10.2	0.3	1	dbSNP_134	63	11,8251		0,11,4120	no	coding-synonymous	USP24	NM_015306.2		0,12,6051	TT,TC,CC		0.1331,0.0259,0.099		1407/2621	55589175	12,12114	1932	4131	6063	USP24	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.4221G>A	1.37:g.55589175C>T		Somatic	0	48	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	46	0	0	70	0.00	0	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.A1247	ENST00000294383.6	37	c.3741	CCDS44154.2	1																																																																																			-	superfamily_ARM-type_fold		0.507	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	protein_coding	OTTHUMT00000022275.2	C		rs145599916		55589175	-1	no_errors	ENST00000407756	ensembl	human	known	74_37	silent	SNP	0.140	T	T	55589175	C	T	55589175	2	4	19	1	0	0	0	0	0	0	0	1	17062	639	23	1		1	USP24	1	55589175	Silent	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	3801716	55589175	193661446	4	1286											
CELF3	11189	genome.wustl.edu	37	chr1	151679629	151679629	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagagtcccacctgggtagGggtgaaccccgttgggatac	15	10	0	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:151679629G>C	ENST00000290583.4	-	8	1707	c.914C>G	c.(913-915)cCc>cGc	p.P305R	CELF3_ENST00000290585.4_Intron|CELF3_ENST00000392706.3_Missense_Mutation_p.P122R|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	305					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 (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ACCTGGGTAGGGGTGAACCCC	0.647																																																	0								ENSG00000159409						28	28	28					1																	151679629		2190	4286	6476	CELF3	SO:0001583	missense	0			-	HGNC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.914C>G	1.37:g.151679629G>C	ENSP00000290583:p.Pro305Arg	Somatic	0	40	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	31	0	0	48	28.36	19	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P305R	ENST00000290583.4	37	c.914	CCDS1002.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.99|17.99	3.522512|3.522512	0.64747|0.64747	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290583;ENST00000392706	T|T;T	0.15603|0.16597	2.41|2.33;3.29	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	0.067970|0.067970	0.64402|0.64402	D|D	0.000017|0.000017	T|T	0.33059|0.33059	0.0850|0.0850	M|M	0.79693|0.79693	2.465|2.465	0.50171|0.50171	D|D	0.999853|0.999853	.|D;P;P;P	.|0.69078	.|0.997;0.736;0.895;0.937	.|D;P;B;P	.|0.67382	.|0.951;0.692;0.347;0.549	T|T	0.29305|0.29305	-1.0016|-1.0016	8|10	0.34782|0.72032	T|D	0.22|0.01	-5.797|-5.797	14.5324|14.5324	0.67936|0.67936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|122;305;305;304	.|B4DQL3;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.|.;.;CELF3_HUMAN;.	A|R	306|305;122	ENSP00000402503:P306A|ENSP00000290583:P305R;ENSP00000376470:P122R	ENSP00000402503:P306A|ENSP00000290583:P305R	P|P	-|-	1|2	0|0	CELF3|CELF3	149946253|149946253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.279000|7.279000	0.78599|0.78599	2.008000|2.008000	0.58898|0.58898	0.555000|0.555000	0.69702|0.69702	CCT|CCC	-	NULL		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	protein_coding	OTTHUMT00000036663.2	G	NM_007185	-		151679629	-1	no_errors	ENST00000290583	ensembl	human	known	74_37	missense	SNP	1.000	C	C	151679629	G	C	151679629	3	2	19	1	0	0	0	0	1	0	0	0	3219	1232	43	4	503	4	CELF3	1	151679629	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	96090454	151679629	97570992	5	1287											
RD3	343035	genome.wustl.edu	37	chr1	211654609	211654609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcagacctttctgaccGcattgctgcgctcccgctgc	11	16	1	2	rs140156866		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:211654609G>A	ENST00000367002.4	-	2	1312	c.149C>T	c.(148-150)gCg>gTg	p.A50V	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	50					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CTTTCTGACCGCATTGCTGCG	0.622																																																	0								ENSG00000198570						91	87	88					1																	211654609		2203	4300	6503	RD3	SO:0001583	missense	0			-	HGNC	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.149C>T	1.37:g.211654609G>A	ENSP00000355969:p.Ala50Val	Somatic	0	33	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	A8K595	Missense_Mutation	SNP	34	0	0	42	20.75	11	NULL	p.A50V	ENST00000367002.4	37	c.149	CCDS1498.1	1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353122	0.24512	.	.	ENSG00000198570	ENST00000367002	T	0.14893	2.47	4.85	1.36	0.22044	.	0.259238	0.43416	D	0.000574	T	0.10981	0.0268	L	0.36672	1.1	0.09310	N	0.999991	B	0.26975	0.165	B	0.24974	0.057	T	0.17623	-1.0363	10	0.45353	T	0.12	-28.3592	4.7064	0.12851	0.1938:0.0:0.4501:0.356	.	50	Q7Z3Z2	RD3_HUMAN	V	50	ENSP00000355969:A50V	ENSP00000355969:A50V	A	-	2	0	RD3	209721232	0.092000	0.21681	0.001000	0.08648	0.061000	0.15899	2.720000	0.47252	0.570000	0.29347	-0.254000	0.11334	GCG	-	NULL		0.622	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RD3	protein_coding	OTTHUMT00000089837.1	G	NM_183059	-		211654609	-1	no_errors	ENST00000367002	ensembl	human	known	74_37	missense	SNP	0.427	A	A	211654609	G	A	211654609	3	1	19	1	0	0	0	0	1	0	0	0	13195	1087	38	1	446	1	RD3	1	211654609	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	59974980	211654609	37596012	6	1288											
LYST	1130	genome.wustl.edu	37	chr1	235973623	235973623	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaattggcttctgaatctgaGgtggagagctgtgtctttct	13	6	4	3			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr1:235973623G>T	ENST00000389794.3	-	5	669	c.495C>A	c.(493-495)acC>acA	p.T165T	LYST_ENST00000389793.2_Silent_p.T165T|LYST_ENST00000536965.1_Silent_p.T165T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	165					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGAATCTGAGGTGGAGAGCT	0.393																																																	0								ENSG00000143669						151	147	148					1																	235973623		2203	4300	6503	LYST	SO:0001819	synonymous_variant	0			-	HGNC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.495C>A	1.37:g.235973623G>T		Somatic	0	45	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	40	0	0	73	0.00	0	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T165	ENST00000389794.3	37	c.495	CCDS31062.1	1																																																																																			-	NULL		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	G		-		235973623	-1	no_errors	ENST00000389793	ensembl	human	known	74_37	silent	SNP	0.706	T	T	235973623	G	T	235973623	2	4	19	1	0	0	0	0	0	0	0	1	9130	987	35	3		3	LYST	1	235973623	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	24319014	235973623	13276998	7	1289											
PLB1	151056	genome.wustl.edu	37	chr2	28812626	28812626	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcagccagtgctctcTggaacaatatggtaagtggc	12	11	1	0	rs376120544		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:28812626T>A	ENST00000327757.5	+	28	2049	c.2005T>A	c.(2005-2007)Tgg>Agg	p.W669R	PLB1_ENST00000422425.2_Missense_Mutation_p.W658R|PLB1_ENST00000329020.6_Missense_Mutation_p.W357R	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	669	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGTGCTCTCTGGAACAATAT	0.532																																																	0								ENSG00000163803						62	63	62					2																	28812626		2203	4300	6503	PLB1	SO:0001583	missense	0			-	HGNC		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2005T>A	2.37:g.28812626T>A	ENSP00000330442:p.Trp669Arg	Somatic	0	22	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	28	0	0	51	27.14	19	pfam_Lipase_GDSL	p.W658R	ENST00000327757.5	37	c.1972	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940710	0.52972	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.73	5.73	0.89815	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	M	0.94142	3.5	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	0.85249	0.1043	10	0.87932	D	0	-13.4894	13.8321	0.63386	0.0:0.0:0.0:1.0	.	658;669;357;669	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.;.;.;PLB1_HUMAN	R	669;658;379;357	ENSP00000330442:W669R;ENSP00000416440:W658R;ENSP00000392493:W379R;ENSP00000330729:W357R	ENSP00000330442:W669R	W	+	1	0	PLB1	28666130	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	6.756000	0.74919	2.308000	0.77769	0.533000	0.62120	TGG	-	NULL		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	protein_coding	OTTHUMT00000353348.2	T		-		28812626	1	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28812626	T	A	28812626	3	1	19	1	0	0	0	0	1	0	0	0	12026	1580	55	5	2148	5	PLB1	2	28812626	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09		28812626	214386747	8	1290											
DQX1	165545	genome.wustl.edu	37	chr2	74750508	74750508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaagtcagccagccAgtgagtgaccacaacctttc	11	11	1	3	rs150732366		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:74750508A>C	ENST00000404568.3	-	5	1192	c.973T>G	c.(973-975)Tgg>Ggg	p.W325G	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.W325G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	325	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCAGCCAGCCAGTGAGTGACC	0.572																																																	0								ENSG00000144045						219	200	207					2																	74750508		2203	4300	6503	DQX1	SO:0001583	missense	0			-	HGNC	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.973T>G	2.37:g.74750508A>C	ENSP00000384621:p.Trp325Gly	Somatic	0	62	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	73	13.10	Q6B017|Q8NAM8	Missense_Mutation	SNP	30	0	0	44	21.43	12	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.W325G	ENST00000404568.3	37	c.973	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342133	0.41498	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02323	4.34;4.34	5.05	5.05	0.67936	Helicase, C-terminal (1);	0.404876	0.23698	N	0.045443	T	0.02767	0.0083	N	0.25647	0.755	0.32729	N	0.509269	P	0.38504	0.634	B	0.33121	0.158	T	0.25916	-1.0118	10	0.87932	D	0	-15.7956	12.7586	0.57350	1.0:0.0:0.0:0.0	.	325	Q8TE96	DQX1_HUMAN	G	325	ENSP00000377523:W325G;ENSP00000384621:W325G	ENSP00000377523:W325G	W	-	1	0	DQX1	74604016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.095000	0.41729	1.897000	0.54924	0.459000	0.35465	TGG	-	superfamily_P-loop_NTPase		0.572	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	protein_coding	OTTHUMT00000252230.3	A	NM_133637	-		74750508	-1	no_errors	ENST00000393951	ensembl	human	known	74_37	missense	SNP	1.000	C	C	74750508	A	C	74750508	3	2	19	1	0	0	0	0	1	0	0	0	4753	188	7	5	1212	5	DQX1	2	74750508	Missense_Mutation	SNP	A	TCGA-DX-A1KU-01A-32D-A24N-09	45937882	74750508	168448865	9	1291											
YSK4	80122	genome.wustl.edu	37	chr2	135757570	135757570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctcttggaaaagttAcagtgatctcaacacctgta	7	9	2	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:135757570A>G	ENST00000375845.3	-	4	281	c.251T>C	c.(250-252)gTa>gCa	p.V84A	MAP3K19_ENST00000392917.3_Missense_Mutation_p.V84A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.V84A|MAP3K19_ENST00000392915.1_Missense_Mutation_p.V101A|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.V84A|MAP3K19_ENST00000358371.4_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	84							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGGAAAAGTTACAGTGATCTC	0.378																																																	0								ENSG00000176601						150	139	143					2																	135757570		2203	4300	6503	MAP3K19	SO:0001583	missense	0			-	HGNC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.251T>C	2.37:g.135757570A>G	ENSP00000365005:p.Val84Ala	Somatic	0	44	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	41	0	0	73	10.98	9	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V84A	ENST00000375845.3	37	c.251	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	A	12.43	1.934375	0.34096	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.76186	-0.92;-1.0;-0.68;-0.56;1.45	4.55	4.55	0.56014	.	0.558674	0.14980	N	0.287283	T	0.78654	0.4317	M	0.69823	2.125	0.80722	D	1	B;P;P;D;P;P	0.56035	0.39;0.93;0.72;0.974;0.72;0.622	B;P;B;P;B;B	0.52189	0.132;0.561;0.199;0.692;0.199;0.112	T	0.76921	-0.2780	10	0.37606	T	0.19	.	10.4602	0.44575	1.0:0.0:0.0:0.0	.	84;84;84;101;84;84	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	A	84;84;84;84;101;56	ENSP00000365005:V84A;ENSP00000365004:V84A;ENSP00000376650:V84A;ENSP00000376649:V84A;ENSP00000376647:V101A	ENSP00000365004:V84A	V	-	2	0	YSK4	135474040	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	3.719000	0.54926	2.052000	0.61016	0.533000	0.62120	GTA	-	NULL		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	protein_coding	OTTHUMT00000158244.1	A	NM_025052	-		135757570	-1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	SNP	1.000	G	G	135757570	A	G	135757570	3	3	19	1	0	0	0	0	1	0	0	0	17502	391	14	5	3763	5	YSK4	2	135757570	Missense_Mutation	SNP	A	TCGA-DX-A1KU-01A-32D-A24N-09	61007062	135757570	107441803	10	1292											
ABCB11	8647	genome.wustl.edu	37	chr2	169820724	169820724	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtgcctgacctttctatCttcttcataggtagacttat	7	9	4	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:169820724C>A	ENST00000263817.6	-	18	2294	c.2170G>T	c.(2170-2172)Gat>Tat	p.D724Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	724					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)			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)	ACCTTTCTATCTTCTTCATAG	0.478																																																	0								ENSG00000073734						65	79	75					2																	169820724		1878	4117	5995	ABCB11	SO:0001583	missense	0			-	HGNC	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.2170G>T	2.37:g.169820724C>A	ENSP00000263817:p.Asp724Tyr	Somatic	0	37	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q53TL2|Q9UNB2	Missense_Mutation	SNP	39	0	0	38	28.30	15	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D724Y	ENST00000263817.6	37	c.2170	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973879	0.34848	.	.	ENSG00000073734	ENST00000263817	D	0.87412	-2.25	4.91	4.91	0.64330	.	2.252610	0.01501	N	0.017502	T	0.80182	0.4576	N	0.03608	-0.345	0.42755	D	0.993783	B;P	0.39131	0.181;0.661	B;B	0.43728	0.116;0.429	T	0.70403	-0.4881	10	0.87932	D	0	.	8.1607	0.31196	0.0:0.7542:0.1605:0.0853	.	166;724	B4DZQ8;O95342	.;ABCBB_HUMAN	Y	724	ENSP00000263817:D724Y	ENSP00000263817:D724Y	D	-	1	0	ABCB11	169528970	0.981000	0.34729	1.000000	0.80357	0.926000	0.56050	0.593000	0.23999	2.277000	0.76020	0.557000	0.71058	GAT	-	NULL		0.478	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	protein_coding	OTTHUMT00000333616.2	C	NM_003742	-		169820724	-1	no_errors	ENST00000263817	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169820724	C	A	169820724	3	1	19	1	0	0	0	0	1	0	0	0	42	913	32	3	1839	3	ABCB11	2	169820724	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	34063154	169820724	73378649	11	1293											
SLC25A12	8604	genome.wustl.edu	37	chr2	172690529	172690529	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatcaatttctagtggtgtGacttgtccatagcgtatggc	10	7	2	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:172690529G>A	ENST00000422440.2	-	8	826	c.789C>T	c.(787-789)gtC>gtT	p.V263V	SLC25A12_ENST00000392592.4_Silent_p.V156V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	263					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTAGTGGTGTGACTTGTCCAT	0.313																																																	0								ENSG00000115840						92	98	96					2																	172690529		2203	4299	6502	SLC25A12	SO:0001819	synonymous_variant	0			-	HGNC	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.789C>T	2.37:g.172690529G>A		Somatic	0	51	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KR64|Q96AM8	Silent	SNP	37	0	0	89	0.00	0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V263	ENST00000422440.2	37	c.789	CCDS33327.1	2																																																																																			-	NULL		0.313	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	protein_coding	OTTHUMT00000259010.2	G	NM_003705	-		172690529	-1	no_errors	ENST00000422440	ensembl	human	known	74_37	silent	SNP	0.995	A	A	172690529	G	A	172690529	2	1	19	1	0	0	0	0	0	0	0	1	14482	1277	45	2		2	SLC25A12	2	172690529	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	2869805	172690529	70508844	12	1294											
TTN	7273	genome.wustl.edu	37	chr2	179464295	179464295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttacccaggacattcagtCtcatctcctttgatgctgtt	6	12	3	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:179464295C>G	ENST00000591111.1	-	239	51634	c.51410G>C	c.(51409-51411)aGa>aCa	p.R17137T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9905T|TTN_ENST00000342992.6_Missense_Mutation_p.R16210T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9838T|TTN_ENST00000460472.2_Missense_Mutation_p.R9713T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18778T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17137	Ig-like 102.				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)			GACATTCAGTCTCATCTCCTT	0.383																																																	0								ENSG00000155657						261	257	258					2																	179464295		1906	4121	6027	TTN	SO:0001583	missense	0			-	HGNC	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.51410G>C	2.37:g.179464295C>G	ENSP00000465570:p.Arg17137Thr	Somatic	0	47	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	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	38	0	0	69	11.54	9	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R16210T	ENST00000591111.1	37	c.48629		2	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803840	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.4	5.4	0.78164	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	0.65037	0.2653	L	0.31120	0.905	0.51233	D	0.999917	D;D;D;D	0.57571	0.98;0.98;0.98;0.98	P;P;P;P	0.53224	0.721;0.721;0.721;0.721	T	0.69304	-0.5180	9	0.87932	D	0	.	19.168	0.93565	0.0:1.0:0.0:0.0	.	9713;9838;9905;17137	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	16210;9713;9905;9838;9711	ENSP00000343764:R16210T;ENSP00000434586:R9713T;ENSP00000340554:R9905T;ENSP00000352154:R9838T	ENSP00000340554:R9905T	R	-	2	0	TTN	179172540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.553000	0.36255	2.532000	0.85374	0.650000	0.86243	AGA	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179464295	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	G	G	179464295	C	G	179464295	3	3	19	1	0	0	0	0	1	0	0	0	16742	913	32	4	51656	4	TTN	2	179464295	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	6773766	179464295	63735078	13	1295											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883839	228883839	+	Frame_Shift_Del	DEL	T	T	-													gccactgagcatgtcacctcTtctctttcacccagaccaca							TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr2:228883839delT	ENST00000392056.3	-	7	1777	c.1731delA	c.(1729-1731)gaafs	p.E578fs	SPHKAP_ENST00000344657.5_Frame_Shift_Del_p.E578fs	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	578						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)		ATGTCACCTCTTCTCTTTCAC	0.547																																																	0								ENSG00000153820						81	75	77					2																	228883839		2203	4300	6503	SPHKAP	SO:0001589	frameshift_variant	0				HGNC		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.1731delA	2.37:g.228883839delT	ENSP00000375909:p.Glu578fs	Somatic	0	34	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	Q68DA3|Q68DR8|Q9C0I5	Frame_Shift_Del	DEL	26	0	0	47	9.62	5	pfam_AKAP_110_C	p.E578fs	ENST00000392056.3	37	c.1731	CCDS46537.1	2																																																																																			-	NULL		0.547	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	T	NM_030623			228883839	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	frame_shift_del	DEL	0.397	-	-	228883839	T	-	228883839	7	5	19	1	0	1	0	1	0	0	0	0	15055	1606	56	0	3395	0	SPHKAP	2	228883839	Frame_Shift_Del	DEL	T	TCGA-DX-A1KU-01A-32D-A24N-09	49419544	228883839	14315534	14	1296											
ATRIP	84126	genome.wustl.edu	37	chr3	48493189	48493189	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaaattaaaattttgCgagactcactacatcagacg	8	7	2	3			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr3:48493189C>T	ENST00000320211.3	+	3	549	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ATRIP_ENST00000346691.4_Nonsense_Mutation_p.R146*|ATRIP_ENST00000357105.6_Nonsense_Mutation_p.R19*|ATRIP_ENST00000412052.1_Nonsense_Mutation_p.R53*	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	146	Interaction with CINP.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAAAATTTTGCGAGACTCACT	0.358								Other conserved DNA damage response genes																																									0								ENSG00000164053						93	95	95					3																	48493189		2203	4300	6503	ATRIP	SO:0001587	stop_gained	0			-	HGNC	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.436C>T	3.37:g.48493189C>T	ENSP00000323099:p.Arg146*	Somatic	0	29	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Nonsense_Mutation	SNP	50	0	0	71	0.00	0	NULL	p.R146*	ENST00000320211.3	37	c.436	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.888762	0.97068	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5327	17.61	0.88050	0.0:1.0:0.0:0.0	.	.	.	.	X	53;146;146;19;53	.	ENSP00000323099:R146X	R	+	1	2	ATRIP	48468193	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.804000	0.69135	2.756000	0.94617	0.655000	0.94253	CGA	-	NULL		0.358	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	protein_coding	OTTHUMT00000257507.2	C	NM_130384	-		48493189	1	no_errors	ENST00000320211	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48493189	C	T	48493189	4	4	19	1	0	0	0	0	0	1	0	0	1205	760	27	1	446	1	ATRIP	3	48493189	Nonsense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		48493189	149529241	15	1297											
XRN1	54464	genome.wustl.edu	37	chr3	142142406	142142406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctatataatttaccgttGtgtttttttgccaccaaatc	5	8	0	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr3:142142406G>T	ENST00000264951.4	-	6	823	c.706C>A	c.(706-708)Caa>Aaa	p.Q236K	XRN1_ENST00000544157.1_Missense_Mutation_p.Q26K|XRN1_ENST00000392981.2_Missense_Mutation_p.Q236K|XRN1_ENST00000463916.1_Missense_Mutation_p.Q236K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	236					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTACCGTTGTGTTTTTTTG	0.308																																																	0								ENSG00000114127						124	118	120					3																	142142406		2200	4295	6495	XRN1	SO:0001583	missense	0			-	HGNC	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.706C>A	3.37:g.142142406G>T	ENSP00000264951:p.Gln236Lys	Somatic	0	45	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	48	0	0	76	0.00	0	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.Q236K	ENST00000264951.4	37	c.706	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	G	2.742	-0.262021	0.05791	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157;ENST00000477237	T;T	0.27557	1.66;1.66	5.52	5.52	0.82312	.	0.106603	0.64402	D	0.000003	T	0.24431	0.0592	L	0.37507	1.11	0.46774	D	0.999193	B;B;B;B;B	0.23249	0.082;0.001;0.012;0.078;0.034	B;B;B;B;B	0.27262	0.036;0.015;0.004;0.078;0.076	T	0.04635	-1.0937	10	0.02654	T	1	.	16.4801	0.84156	0.0:0.1307:0.8693:0.0	.	26;236;97;236;236	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	K	236;236;236;26;97	ENSP00000264951:Q236K;ENSP00000376707:Q236K	ENSP00000264951:Q236K	Q	-	1	0	XRN1	143625096	1.000000	0.71417	0.998000	0.56505	0.327000	0.28475	7.459000	0.80802	2.609000	0.88269	0.460000	0.39030	CAA	-	pirsf_5_3_exoribonuclease_1		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	protein_coding	OTTHUMT00000354087.2	G	NM_019001	-		142142406	-1	no_errors	ENST00000264951	ensembl	human	known	74_37	missense	SNP	1.000	T	T	142142406	G	T	142142406	3	4	19	1	0	0	0	0	1	0	0	0	17466	1386	48	3	4562	3	XRN1	3	142142406	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	93649217	142142406	55880024	16	1298											
SLITRK3	22865	genome.wustl.edu	37	chr3	164908086	164908086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagattatcatttaaaatcAgaaccctcaatttacttagg	5	7	3	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr3:164908086A>T	ENST00000475390.1	-	2	976	c.533T>A	c.(532-534)cTg>cAg	p.L178Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L178Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	178					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTTAAAATCAGAACCCTCAA	0.383										HNSCC(40;0.11)																																							0								ENSG00000121871						71	71	71					3																	164908086		2203	4300	6503	SLITRK3	SO:0001583	missense	0			-	HGNC	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.533T>A	3.37:g.164908086A>T	ENSP00000420091:p.Leu178Gln	Somatic	0	35	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	Q1RMY6	Missense_Mutation	SNP	29	0	0	53	15.87	10	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L178Q	ENST00000475390.1	37	c.533	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578664	0.65878	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.75154	-0.91;-0.91	5.99	5.99	0.97316	.	0.000000	0.30302	N	0.009939	D	0.91851	0.7421	H	0.98542	4.26	0.53688	D	0.999971	D	0.71674	0.998	D	0.81914	0.995	D	0.94853	0.8015	10	0.87932	D	0	-9.732	16.4892	0.84195	1.0:0.0:0.0:0.0	.	178	O94933	SLIK3_HUMAN	Q	178	ENSP00000420091:L178Q;ENSP00000241274:L178Q	ENSP00000241274:L178Q	L	-	2	0	SLITRK3	166390780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.296000	0.77279	0.533000	0.62120	CTG	-	smart_Leu-rich_rpt_typical-subtyp		0.383	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	protein_coding	OTTHUMT00000350126.1	A	NM_014926	-		164908086	-1	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	SNP	1.000	T	T	164908086	A	T	164908086	3	4	19	1	0	0	0	0	1	0	0	0	14752	188	7	5	2404	5	SLITRK3	3	164908086	Missense_Mutation	SNP	A	TCGA-DX-A1KU-01A-32D-A24N-09	22765680	164908086	33114344	17	1299											
FNDC3B	64778	genome.wustl.edu	37	chr3	172050953	172050953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctcaaaagaagcacacaGtataaattcagggtgagtca	8	7	3	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr3:172050953G>T	ENST00000336824.4	+	14	1728	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.Q543H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.Q543H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	543	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAAGCACACAGTATAAATTCA	0.378																																																	0								ENSG00000075420						102	107	106					3																	172050953		2203	4300	6503	FNDC3B	SO:0001583	missense	0			-	HGNC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1629G>T	3.37:g.172050953G>T	ENSP00000338523:p.Gln543His	Somatic	0	40	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	36	0	0	63	0.00	0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q543H	ENST00000336824.4	37	c.1629	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056769	0.76074	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57907	0.37;0.37;0.37	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.91635	0.999;0.95	T	0.72083	-0.4397	10	0.49607	T	0.09	-16.5015	12.9023	0.58133	0.0733:0.0:0.9267:0.0	.	543;543	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	H	543	ENSP00000411242:Q543H;ENSP00000338523:Q543H;ENSP00000389094:Q543H	ENSP00000338523:Q543H	Q	+	3	2	FNDC3B	173533647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.511000	0.60462	2.894000	0.99253	0.591000	0.81541	CAG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	protein_coding	OTTHUMT00000345618.2	G	NM_022763	-		172050953	1	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172050953	G	T	172050953	3	4	19	1	0	0	0	0	1	0	0	0	5972	1020	36	3	1679	3	FNDC3B	3	172050953	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	7142867	172050953	25971477	18	1300											
OPA1	4976	genome.wustl.edu	37	chr3	193361213	193361213	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagaggatggtgcttgttGacttaccaggtgtgattaat	12	5	0	3			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr3:193361213G>T	ENST00000392438.3	+	12	1426	c.1192G>T	c.(1192-1194)Gac>Tac	p.D398Y	OPA1_ENST00000361908.3_Missense_Mutation_p.D435Y|OPA1_ENST00000361510.2_Missense_Mutation_p.D453Y|OPA1_ENST00000361828.2_Missense_Mutation_p.D416Y|OPA1_ENST00000361715.2_Missense_Mutation_p.D417Y|OPA1_ENST00000361150.2_Missense_Mutation_p.D399Y	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	398	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGTGCTTGTTGACTTACCAGG	0.303																																																	0								ENSG00000198836						78	84	82					3																	193361213		2203	4299	6502	OPA1	SO:0001583	missense	0			-	HGNC	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1192G>T	3.37:g.193361213G>T	ENSP00000376233:p.Asp398Tyr	Somatic	0	23	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	D3DNW4	Missense_Mutation	SNP	33	0	0	47	24.19	15	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.D453Y	ENST00000392438.3	37	c.1357	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852029	0.91355	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.99909	-7.84;-7.84;-7.84;-7.84;-7.84;-7.84	5.79	5.79	0.91817	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99947	0.9977	H	0.98769	4.325	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	0.96228	0.9166	10	0.87932	D	0	-19.1912	19.0145	0.92888	0.0:0.0:1.0:0.0	.	362;398;380;399;416;435;417;453	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Y	435;398;453;417;416;399	ENSP00000354681:D435Y;ENSP00000376233:D398Y;ENSP00000355324:D453Y;ENSP00000355311:D417Y;ENSP00000354429:D416Y;ENSP00000354781:D399Y	ENSP00000354781:D399Y	D	+	1	0	OPA1	194843907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.910000	0.87451	2.735000	0.93741	0.655000	0.94253	GAC	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF		0.303	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	protein_coding	OTTHUMT00000313812.2	G	NM_130837	-		193361213	1	no_errors	ENST00000361510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	193361213	G	T	193361213	3	4	19	1	0	0	0	0	1	0	0	0	10873	1290	45	3	1411	3	OPA1	3	193361213	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	21310260	193361213	4661217	19	1301											
DSPP	1834	genome.wustl.edu	37	chr4	88536934	88536934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatagcagtgacagcagCgatagcagtgacagcagcga	14	9	0	2	rs200948555		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr4:88536934C>T	ENST00000282478.7	+	4	3153	c.3120C>T	c.(3118-3120)agC>agT	p.S1040S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1040S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1040	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcgatagcagtg	0.527																																																	0								ENSG00000152591	C		2,3110		0,2,1554	57	65	62		3120	-2.8	0.7	4	dbSNP_134	62	7,5519		0,7,2756	no	coding-synonymous	DSPP	NM_014208.3		0,9,4310	TT,TC,CC		0.1267,0.0643,0.1042		1040/1302	88536934	9,8629	1556	2763	4319	DSPP	SO:0001819	synonymous_variant	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3120C>T	4.37:g.88536934C>T		Somatic	0	46	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	19.15	A8MUI0|O95815	Silent	SNP	22	12	3	24	11.11	3	NULL	p.S1040	ENST00000282478.7	37	c.3120	CCDS43248.1	4																																																																																			-	NULL		0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	C	NM_014208	rs200948555		88536934	1	no_errors	ENST00000282478	ensembl	human	known	74_37	silent	SNP	0.968	T	T	88536934	C	T	88536934	2	4	19	1	0	0	0	0	0	0	0	1	4784	767	27	1		1	DSPP	4	88536934	Silent	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		88536934	102617342	20	1302											
TARS	6897	genome.wustl.edu	37	chr5	33461059	33461059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaactgcctctgcggctaGctgattttggggtacttcat	12	9	2	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr5:33461059G>T	ENST00000265112.3	+	12	1614	c.1303G>T	c.(1303-1305)Gct>Tct	p.A435S	TARS_ENST00000414361.2_Missense_Mutation_p.A314S|TARS_ENST00000502553.1_Missense_Mutation_p.A435S|TARS_ENST00000455217.2_Missense_Mutation_p.A468S|TARS_ENST00000541634.1_Missense_Mutation_p.A331S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	435					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTGCGGCTAGCTGATTTTGG	0.483																																																	0								ENSG00000113407						84	87	86					5																	33461059		2203	4300	6503	TARS	SO:0001583	missense	0			-	HGNC	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1303G>T	5.37:g.33461059G>T	ENSP00000265112:p.Ala435Ser	Somatic	0	31	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	39	0	0	69	0.00	0	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.A435S	ENST00000265112.3	37	c.1303	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873509	0.91664	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.79108	0.964;0.992;0.975;0.992	D	0.87485	0.2423	10	0.56958	D	0.05	6.4172	20.8794	0.99867	0.0:0.0:1.0:0.0	.	314;468;331;435	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	S	435;435;331;468;314	ENSP00000424387:A435S;ENSP00000265112:A435S;ENSP00000438469:A331S;ENSP00000387710:A468S;ENSP00000394291:A314S	ENSP00000265112:A435S	A	+	1	0	TARS	33496816	1.000000	0.71417	0.637000	0.29366	0.550000	0.35303	9.820000	0.99359	2.941000	0.99782	0.655000	0.94253	GCT	-	pfam_aa-tRNA-synt_IIb_cons-dom,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa		0.483	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	protein_coding	OTTHUMT00000207367.1	G	NM_152295	-		33461059	1	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33461059	G	T	33461059	3	4	19	1	0	0	0	0	1	0	0	0	15566	971	34	3	1349	3	TARS	5	33461059	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		33461059	147454201	21	1303											
PCDHA12	56137	genome.wustl.edu	37	chr5	140256478	140256478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacccgccgggctgccacaTcttcacggtgtcggcatggg	13	15	2	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr5:140256478T>C	ENST00000398631.2	+	1	1421	c.1421T>C	c.(1420-1422)aTc>aCc	p.I474T	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	474	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(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCCACATCTTCACGGTG	0.657																																					Pancreas(113;759 1672 13322 24104 50104)												0								ENSG00000251664						77	82	80					5																	140256478		2203	4299	6502	PCDHA12	SO:0001583	missense	0			-	HGNC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1421T>C	5.37:g.140256478T>C	ENSP00000381628:p.Ile474Thr	Somatic	0	195	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	128	20.00	O75278|Q2M1N8	Missense_Mutation	SNP	26	0	0	44	18.52	10	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I474T	ENST00000398631.2	37	c.1421	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297498	0.60086	.	.	ENSG00000251664	ENST00000398631	T	0.65178	-0.14	4.77	4.77	0.60923	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.83640	0.5298	H	0.94462	3.54	0.24134	N	0.995757	D;D	0.71674	0.998;0.998	D;D	0.80764	0.974;0.994	T	0.76833	-0.2813	9	0.87932	D	0	.	11.864	0.52482	0.0:0.0:0.1457:0.8543	.	474;474	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	474	ENSP00000381628:I474T	ENSP00000381628:I474T	I	+	2	0	PCDHA12	140236662	0.432000	0.25554	1.000000	0.80357	0.989000	0.77384	2.975000	0.49281	1.920000	0.55613	0.529000	0.55759	ATC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.657	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	protein_coding	OTTHUMT00000372882.2	T	NM_018903	-		140256478	1	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	SNP	0.997	C	C	140256478	T	C	140256478	3	2	19	1	0	0	0	0	1	0	0	0	11524	1435	50	5	1423	5	PCDHA12	5	140256478	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09	106795419	140256478	40658782	22	1304											
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171809057	171809057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactctttggggggattcagGtcctcaggtcttgtctcaaa	11	9	5	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr5:171809057G>T	ENST00000311601.5	-	5	554	c.384C>A	c.(382-384)gaC>gaA	p.D128E	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.D128E	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGGATTCAGGTCCTCAGGTC	0.567																																																	0								ENSG00000174705						26	27	27					5																	171809057		2203	4300	6503	SH3PXD2B	SO:0001583	missense	0			-	HGNC	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.384C>A	5.37:g.171809057G>T	ENSP00000309714:p.Asp128Glu	Somatic	0	56	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	59	13.24	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	32	0	0	45	16.67	9	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.D128E	ENST00000311601.5	37	c.384	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032460	0.75504	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.72394	-0.65;-0.65	5.79	4.74	0.60224	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	D	0.84065	0.5390	M	0.88570	2.965	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	D	0.85599	0.1251	10	0.87932	D	0	-42.9529	8.839	0.35131	0.1719:0.0:0.8281:0.0	.	128	A1X283	SPD2B_HUMAN	E	128	ENSP00000430890:D128E;ENSP00000309714:D128E	ENSP00000309714:D128E	D	-	3	2	SH3PXD2B	171741662	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.189000	0.58358	2.731000	0.93534	0.650000	0.86243	GAC	-	superfamily_Phox,pfscan_Phox		0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	G	NM_017963	-		171809057	-1	no_errors	ENST00000311601	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171809057	G	T	171809057	3	4	19	1	0	0	0	0	1	0	0	0	14265	1252	44	3	2387	3	SH3PXD2B	5	171809057	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	31552579	171809057	9106203	23	1305											
LRRC16A	55604	genome.wustl.edu	37	chr6	25606292	25606292	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctttttcatcttagtgcCtaaactgcacccaggtcttc	7	13	3	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr6:25606292C>G	ENST00000329474.6	+	35	4006	c.3638C>G	c.(3637-3639)cCt>cGt	p.P1213R		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1213					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCTTAGTGCCTAAACTGCAC	0.453																																																	0								ENSG00000079691						37	40	39					6																	25606292		1852	4085	5937	LRRC16A	SO:0001583	missense	0			-	HGNC	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3638C>G	6.37:g.25606292C>G	ENSP00000331983:p.Pro1213Arg	Somatic	0	55	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	26.83	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	32	0	0	54	19.40	13	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1213R	ENST00000329474.6	37	c.3638	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932277	0.52866	.	.	ENSG00000079691	ENST00000329474	T	0.15372	2.43	5.85	5.85	0.93711	.	0.382752	0.26662	N	0.023149	T	0.12092	0.0294	L	0.57536	1.79	0.80722	D	1	B	0.32245	0.361	B	0.24006	0.05	T	0.02251	-1.1188	10	0.46703	T	0.11	-9.7339	20.1649	0.98147	0.0:1.0:0.0:0.0	.	1213	Q5VZK9	LR16A_HUMAN	R	1213	ENSP00000331983:P1213R	ENSP00000331983:P1213R	P	+	2	0	LRRC16A	25714271	0.748000	0.28294	1.000000	0.80357	0.873000	0.50193	4.131000	0.57970	2.753000	0.94483	0.655000	0.94253	CCT	-	NULL		0.453	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	protein_coding	OTTHUMT00000040045.2	C	NM_017640	-		25606292	1	no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	SNP	0.998	G	G	25606292	C	G	25606292	3	3	19	1	0	0	0	0	1	0	0	0	8973	681	24	4	3776	4	LRRC16A	6	25606292	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		25606292	145508775	24	1306											
ZNF311	282890	genome.wustl.edu	37	chr6	28963898	28963898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctgtgtggattatcCggtgcatagaaagctgattt	10	9	1	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr6:28963898C>T	ENST00000377179.3	-	7	1393	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	294					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						GTGGATTATCCGGTGCATAGA	0.443																																																	0								ENSG00000197935						81	88	85					6																	28963898		1511	2707	4218	ZNF311	SO:0001583	missense	0			-	HGNC	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.881G>A	6.37:g.28963898C>T	ENSP00000366384:p.Arg294Gln	Somatic	0	59	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	67	10.67	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	48	0	0	48	17.24	10	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R294Q	ENST00000377179.3	37	c.881	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	T	1.237	-0.622456	0.03636	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.17691	2.26	3.55	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.25789	0.76	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46148	-0.9212	9	0.02654	T	1	-0.0075	6.3348	0.21291	0.1664:0.5455:0.0:0.2882	.	294	Q5JNZ3	ZN311_HUMAN	Q	294;202	ENSP00000366384:R294Q	ENSP00000366384:R294Q	R	-	2	0	ZNF311	29071877	0.000000	0.05858	0.123000	0.21794	0.800000	0.45204	-0.428000	0.06991	-1.061000	0.03185	-0.524000	0.04348	CGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	protein_coding	OTTHUMT00000076631.3	C	XM_212581	-		28963898	-1	no_errors	ENST00000377179	ensembl	human	known	74_37	missense	SNP	0.864	T	T	28963898	C	T	28963898	3	4	19	1	0	0	0	0	1	0	0	0	17841	652	23	1	1123	1	ZNF311	6	28963898	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	3357606	28963898	142151169	25	1307											
ABCC10	89845	genome.wustl.edu	37	chr6	43405672	43405672	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgtggcttccttgcagGgtatgctggtgggcatcgtg	16	8	0	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr6:43405672G>T	ENST00000372530.4	+	7	2091	c.1876G>T	c.(1876-1878)Ggt>Tgt	p.G626C	ABCC10_ENST00000244533.3_Splice_Site_p.G598C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	626	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTCCTTGCAGGGTATGCTGGT	0.597																																																	0								ENSG00000124574						78	65	70					6																	43405672		2203	4300	6503	ABCC10	SO:0001630	splice_region_variant	0			-	HGNC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1876-1G>T	6.37:g.43405672G>T		Somatic	0	68	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	61	12.86	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	26	0	0	47	20.34	12	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G626C	ENST00000372530.4	37	c.1876	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.151832	0.94645	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.96396	-4.0;-4.0;-4.0	5.56	5.56	0.83823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99338	1.0911	9	.	.	.	-47.5666	19.5375	0.95260	0.0:0.0:1.0:0.0	.	598;626	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	182;626;598	ENSP00000361593:G182C;ENSP00000361608:G626C;ENSP00000244533:G598C	.	G	+	1	0	ABCC10	43513650	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.333000	0.96459	2.620000	0.88729	0.655000	0.94253	GGT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	protein_coding	OTTHUMT00000040603.2	G	NM_033450	-	Missense_Mutation	43405672	1	no_errors	ENST00000372530	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43405672	G	T	43405672	5	4	19	1	0	0	0	0	0	0	1	0	50	1246	43	3	1810	3	ABCC10	6	43405672	Splice_Site	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	14441774	43405672	127709395	26	1308											
FUT9	10690	genome.wustl.edu	37	chr6	96651911	96651911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtggaagattataacTctcccagtgagctagcaaag	9	8	2	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr6:96651911T>A	ENST00000302103.5	+	3	1206	c.880T>A	c.(880-882)Tct>Act	p.S294T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	294					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AGATTATAACTCTCCCAGTGA	0.383																																					Melanoma(98;1369 1476 6592 22940 26587)												0								ENSG00000172461						67	66	67					6																	96651911		2203	4300	6503	FUT9	SO:0001583	missense	0			-	HGNC	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.880T>A	6.37:g.96651911T>A	ENSP00000302599:p.Ser294Thr	Somatic	0	20	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	Q5T0W4	Missense_Mutation	SNP	45	0	0	71	12.35	10	pfam_Glyco_trans_10	p.S294T	ENST00000302103.5	37	c.880	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537307	0.65085	.	.	ENSG00000172461	ENST00000302103	T	0.35605	1.3	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.53729	1.69	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	T	0.27434	-1.0074	10	0.48119	T	0.1	-15.9225	14.7805	0.69764	0.0:0.0:0.0:1.0	.	294	Q9Y231	FUT9_HUMAN	T	294	ENSP00000302599:S294T	ENSP00000302599:S294T	S	+	1	0	FUT9	96758632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.091000	0.63221	0.383000	0.25322	TCT	-	pfam_Glyco_trans_10		0.383	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	protein_coding	OTTHUMT00000041554.2	T	NM_006581	-		96651911	1	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96651911	T	A	96651911	3	1	19	1	0	0	0	0	1	0	0	0	6113	1551	54	5	882	5	FUT9	6	96651911	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09	53246239	96651911	74463156	27	1309											
TRDN	10345	genome.wustl.edu	37	chr6	123687301	123687301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaattgaaaccgcacCaatctcctctttggctcgtt	5	11	2	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr6:123687301C>A	ENST00000398178.3	-	20	1321	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	TRDN_ENST00000334268.4_Missense_Mutation_p.G434C	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	434					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAAACCGCACCAATCTCCTCT	0.328																																																	0								ENSG00000186439						93	88	90					6																	123687301		1812	4083	5895	TRDN	SO:0001583	missense	0			-	HGNC	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1300G>T	6.37:g.123687301C>A	ENSP00000381240:p.Gly434Cys	Somatic	0	62	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	72	11.11	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	39	0	0	44	15.38	8	pfam_Asp-B-hydro/Triadin_dom	p.G434C	ENST00000398178.3	37	c.1300	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492108	0.26774	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.18502	2.21;2.21	5.55	2.73	0.32206	.	0.800098	0.11207	N	0.588133	T	0.04724	0.0128	N	0.08118	0	0.20074	N	0.999931	D;D;D	0.55172	0.97;0.97;0.97	P;P;P	0.49708	0.62;0.62;0.62	T	0.22941	-1.0202	10	0.56958	D	0.05	-0.0734	6.7044	0.23242	0.0:0.698:0.0:0.302	.	434;435;434	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	C	434;436;434	ENSP00000381240:G434C;ENSP00000333984:G434C	ENSP00000333984:G434C	G	-	1	0	TRDN	123729000	0.001000	0.12720	0.151000	0.22473	0.176000	0.22953	0.582000	0.23834	0.404000	0.25506	0.655000	0.94253	GGT	-	NULL		0.328	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	protein_coding		C		-		123687301	-1	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	SNP	0.315	A	A	123687301	C	A	123687301	3	1	19	1	0	0	0	0	1	0	0	0	16475	594	21	3	977	3	TRDN	6	123687301	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	27035390	123687301	47427766	28	1310											
PCLO	27445	genome.wustl.edu	37	chr7	82474639	82474639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggaccctggttgcccaGggctgggaacggaactggat	18	9	0	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr7:82474639G>T	ENST00000333891.9	-	13	14331	c.13994C>A	c.(13993-13995)cCt>cAt	p.P4665H	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.P4665H	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						TGGTTGCCCAGGGCTGGGAAC	0.507																																																	0								ENSG00000186472						66	66	66					7																	82474639		2002	4166	6168	PCLO	SO:0001583	missense	0			-	HGNC	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.13994C>A	7.37:g.82474639G>T	ENSP00000334319:p.Pro4665His	Somatic	0	111	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	83	10.53		Missense_Mutation	SNP	36	0	0	44	16.98	9	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P4665H	ENST00000333891.9	37	c.13994	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091051	0.55968	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.18657	2.2;2.21	5.53	5.53	0.82687	.	.	.	.	.	T	0.46444	0.1393	L	0.56769	1.78	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;0.999;0.998	T	0.34800	-0.9814	9	0.87932	D	0	.	19.827	0.96621	0.0:0.0:1.0:0.0	.	4665;4665;95;162	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	H	4665;4665;161	ENSP00000334319:P4665H;ENSP00000388393:P4665H	ENSP00000334319:P4665H	P	-	2	0	PCLO	82312575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.110000	0.94302	2.759000	0.94783	0.561000	0.74099	CCT	-	NULL		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82474639	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82474639	G	T	82474639	3	4	19	1	0	0	0	0	1	0	0	0	11585	1000	35	3	1503	3	PCLO	7	82474639	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		82474639	76664024	29	1311											
MCM7	4176	genome.wustl.edu	37	chr7	99697360	99697360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catacagagccacctgttccCgatgagccagccgaacctca	8	16	1	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr7:99697360C>A	ENST00000303887.5	-	3	773	c.128G>T	c.(127-129)cGg>cTg	p.R43L	AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000422582.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.R43L|AP4M1_ENST00000421755.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	43					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCTGTTCCCGATGAGCCAG	0.532																																																	0								ENSG00000166508						77	72	74					7																	99697360		2203	4300	6503	MCM7	SO:0001583	missense	0			-	HGNC		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.128G>T	7.37:g.99697360C>A	ENSP00000307288:p.Arg43Leu	Somatic	0	55	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	37	0	0	56	13.85	9	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4	p.R43L	ENST00000303887.5	37	c.128	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343736	0.82022	.	.	ENSG00000166508	ENST00000343023;ENST00000303887	T;T	0.13538	2.58;2.58	4.4	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41627	-0.9498	10	0.23302	T	0.38	.	14.5272	0.67897	0.0:1.0:0.0:0.0	.	43	P33993	MCM7_HUMAN	L	43	ENSP00000344006:R43L;ENSP00000307288:R43L	ENSP00000307288:R43L	R	-	2	0	MCM7	99535296	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	7.167000	0.77562	2.255000	0.74692	0.557000	0.71058	CGG	-	superfamily_NA-bd_OB-fold		0.532	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	protein_coding	OTTHUMT00000336534.3	C		-		99697360	-1	no_errors	ENST00000303887	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99697360	C	A	99697360	3	1	19	1	0	0	0	0	1	0	0	0	9394	652	23	3	2083	3	MCM7	7	99697360	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	17222721	99697360	59441303	30	1312											
MGAM	8972	genome.wustl.edu	37	chr7	141730510	141730510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacaggggttcagatatgAagatatgggtgaatagttca	13	3	2	5			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr7:141730510A>G	ENST00000549489.2	+	12	1518	c.1423A>G	c.(1423-1425)Aag>Gag	p.K475E	MGAM_ENST00000475668.2_Missense_Mutation_p.K475E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	475	Maltase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCAGATATGAAGATATGGGT	0.463																																																	0								ENSG00000257335						104	95	98					7																	141730510		1884	4122	6006	MGAM	SO:0001583	missense	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1423A>G	7.37:g.141730510A>G	ENSP00000447378:p.Lys475Glu	Somatic	0	57	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	36	0	0	45	18.18	10	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.K475E	ENST00000549489.2	37	c.1423	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156092	0.57259	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92858	-3.12	4.99	4.99	0.66335	Glycoside hydrolase, superfamily (1);	0.599063	0.15945	N	0.237003	D	0.86653	0.5984	L	0.39085	1.19	0.29670	N	0.842579	B	0.20550	0.046	B	0.27076	0.076	T	0.77332	-0.2627	10	0.18710	T	0.47	.	8.4636	0.32942	0.9121:0.0:0.0879:0.0	.	475	O43451	MGA_HUMAN	E	475;475;352	ENSP00000447378:K475E	ENSP00000316431:K352E	K	+	1	0	MGAM	141376979	0.998000	0.40836	0.968000	0.41197	0.990000	0.78478	3.411000	0.52672	2.096000	0.63516	0.460000	0.39030	AAG	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	A		-		141730510	1	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	SNP	1.000	G	G	141730510	A	G	141730510	3	3	19	1	0	0	0	0	1	0	0	0	9543	247	9	5	1465	5	MGAM	7	141730510	Missense_Mutation	SNP	A	TCGA-DX-A1KU-01A-32D-A24N-09	42033150	141730510	17408153	31	1313											
IDO2	169355	genome.wustl.edu	37	chr8	39873079	39873079	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagctttcttaagagtgtCagggataagaccttggagtc	12	6	2	3			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr8:39873079C>T	ENST00000389060.4	+	10	1182	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	IDO2_ENST00000502986.2_Silent_p.V407V|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	394					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTAAGAGTGTCAGGGATAAGA	0.567																																																	0								ENSG00000188676						113	110	111					8																	39873079		1962	4151	6113	IDO2	SO:0001819	synonymous_variant	0			-	HGNC	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1182C>T	8.37:g.39873079C>T		Somatic	0	30	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A4UD41	Silent	SNP	27	0	0	62	1.59	1	pfam_Indolamine_dOase	p.V407	ENST00000389060.4	37	c.1221		8																																																																																			-	pfam_Indolamine_dOase		0.567	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	protein_coding	OTTHUMT00000372742.1	C	NM_194294	-		39873079	1	no_errors	ENST00000502986	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39873079	C	T	39873079	2	4	19	1	0	0	0	0	0	0	0	1	7504	813	29	2		2	IDO2	8	39873079	Silent	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		39873079	106490943	32	1314											
CHD7	55636	genome.wustl.edu	37	chr8	61743078	61743078	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagctaacgtacctaaCctattaaacactatgatgga	7	9	1	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr8:61743078C>G	ENST00000423902.2	+	15	4199	c.3720C>G	c.(3718-3720)aaC>aaG	p.N1240K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1240					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACGTACCTAACCTATTAAACA	0.423																																																	0								ENSG00000171316						107	102	104					8																	61743078		1945	4145	6090	CHD7	SO:0001583	missense	0			-	HGNC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3720C>G	8.37:g.61743078C>G	ENSP00000392028:p.Asn1240Lys	Somatic	0	42	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	31	0	0	52	1.89	1	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N1240K	ENST00000423902.2	37	c.3720	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016904	0.75161	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.92752	-3.1	5.77	3.95	0.45737	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	N	0.20357	0.565	0.58432	D	0.999998	D	0.71674	0.998	D	0.74348	0.983	D	0.90484	0.4462	10	0.87932	D	0	-23.6902	7.5588	0.27839	0.0:0.6538:0.0:0.3462	.	1240	Q9P2D1	CHD7_HUMAN	K	1240	ENSP00000392028:N1240K	ENSP00000307304:N1240K	N	+	3	2	CHD7	61905632	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.715000	0.37971	1.438000	0.47492	0.591000	0.81541	AAC	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	C	XM_098762	-		61743078	1	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	SNP	1.000	G	G	61743078	C	G	61743078	3	3	19	1	0	0	0	0	1	0	0	0	3332	506	18	4	3774	4	CHD7	8	61743078	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	21869999	61743078	84620944	33	1315											
ASAP1	50807	genome.wustl.edu	37	chr8	131149206	131149206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggactcacgtgatatcaGgtcaaaagattttttgtctt	8	6	4	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr8:131149206G>T	ENST00000518721.1	-	14	1386	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	ASAP1_ENST00000357668.1_Missense_Mutation_p.L387M	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	387	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CGTGATATCAGGTCAAAAGAT	0.438																																																	0								ENSG00000153317						186	173	178					8																	131149206		2203	4300	6503	ASAP1	SO:0001583	missense	0			-	HGNC	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1159C>A	8.37:g.131149206G>T	ENSP00000429900:p.Leu387Met	Somatic	0	55	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B2RNV3	Missense_Mutation	SNP	35	0	0	47	9.62	5	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L387M	ENST00000518721.1	37	c.1159	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.839159|4.839159	0.91117|0.91117	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.78595|.	-1.19;-1.19|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87285|0.87285	0.6139|0.6139	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	D|D	0.89589|0.89589	0.3826|0.3826	10|5	0.72032|.	D|.	0.01|.	.|.	19.3629|19.3629	0.94448|0.94448	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	387;387;390|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	M|H	390;387;387|207	ENSP00000350297:L387M;ENSP00000429900:L387M|.	ENSP00000344591:L390M|.	L|P	-|-	1|2	2|0	ASAP1|ASAP1	131218388|131218388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.595000|7.595000	0.82710|0.82710	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CTG|CCT	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.438	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	protein_coding	OTTHUMT00000380170.1	G	NM_018482	-		131149206	-1	no_errors	ENST00000357668	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131149206	G	T	131149206	3	4	19	1	0	0	0	0	1	0	0	0	1010	991	35	3	2298	3	ASAP1	8	131149206	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	69406128	131149206	15214816	34	1316											
C9orf98	158067	genome.wustl.edu	37	chr9	135668027	135668027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcagctcacctgttgGgattgtagcccaggcggttc	15	11	1	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr9:135668027G>A	ENST00000298545.3	-	11	1636	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	372	Adenylate kinase 2.				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						TCACCTGTTGGGATTGTAGCC	0.662																																																	0								ENSG00000165695						18	17	17					9																	135668027		2171	4252	6423	AK8	SO:0001583	missense	0			-	HGNC	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.1115C>T	9.37:g.135668027G>A	ENSP00000298545:p.Pro372Leu	Somatic	0	64	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	A8K821|Q8N9W9	Missense_Mutation	SNP	25	0	0	22	15.38	4	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.P372L	ENST00000298545.3	37	c.1115	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463690	0.63513	.	.	ENSG00000165695	ENST00000298545	T	0.74106	-0.81	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70267	-0.4919	10	0.02654	T	1	-18.8307	16.2823	0.82697	0.0:0.0:1.0:0.0	.	372	Q96MA6	KAD8_HUMAN	L	372	ENSP00000298545:P372L	ENSP00000298545:P372L	P	-	2	0	AK8	134657848	1.000000	0.71417	0.998000	0.56505	0.354000	0.29330	6.785000	0.75089	2.590000	0.87494	0.561000	0.74099	CCC	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase		0.662	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	protein_coding	OTTHUMT00000055413.1	G	NM_152572	-		135668027	-1	no_errors	ENST00000298545	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135668027	G	A	135668027	3	1	19	1	0	0	0	0	1	0	0	0	2511	1232	43	2	336	2	C9orf98	9	135668027	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		135668027	5545404	35	1317											
UPF2	26019	genome.wustl.edu	37	chr10	12071314	12071314	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatttaggccattaaaaTcatgggacaaggagtctctc	8	7	2	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr10:12071314T>A	ENST00000356352.2	-	2	1048	c.575A>T	c.(574-576)gAt>gTt	p.D192V	UPF2_ENST00000357604.5_Missense_Mutation_p.D192V|UPF2_ENST00000397053.2_Missense_Mutation_p.D192V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	192	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCCATTAAAATCATGGGACAA	0.388																																																	0								ENSG00000151461						90	94	92					10																	12071314		2203	4300	6503	UPF2	SO:0001583	missense	0			-	HGNC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.575A>T	10.37:g.12071314T>A	ENSP00000348708:p.Asp192Val	Somatic	0	70	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	54	28.95	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	34	0	0	58	23.68	18	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.D192V	ENST00000356352.2	37	c.575	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628215	0.66901	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.44482	0.92;0.92;0.92	5.74	5.74	0.90152	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.78285	2.405	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.943;0.985	T	0.70498	-0.4855	10	0.87932	D	0	.	16.3426	0.83092	0.0:0.0:0.0:1.0	.	162;192	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	V	192;192;162;192;162	ENSP00000348708:D192V;ENSP00000350221:D192V;ENSP00000380244:D192V	ENSP00000313617:D162V	D	-	2	0	UPF2	12111320	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.948000	0.87774	2.317000	0.78254	0.460000	0.39030	GAT	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.388	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	protein_coding	OTTHUMT00000046783.1	T		-		12071314	-1	no_errors	ENST00000356352	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12071314	T	A	12071314	3	1	19	1	0	0	0	0	1	0	0	0	17011	1435	50	5	3323	5	UPF2	10	12071314	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09		12071314	123463433	36	1318											
OR51G1	79324	genome.wustl.edu	37	chr11	4944762	4944762	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggtgtacaacgcggggcaGatgttcaccaaagcgatgca	14	9	1	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr11:4944762G>A	ENST00000321961.2	-	1	875	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCGGGGCAGATGTTCACCA	0.498																																																	0								ENSG00000176879						204	165	178					11																	4944762		2201	4298	6499	OR51G1	SO:0001819	synonymous_variant	0			-	HGNC	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.808C>T	11.37:g.4944762G>A		Somatic	0	50	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	76	17.39	B9EGW8|Q6IFH6	Silent	SNP	25	0	0	75	12.79	11	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L270	ENST00000321961.2	37	c.808	CCDS31366.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	protein_coding	OTTHUMT00000142345.1	G	NM_001005237	-		4944762	-1	no_errors	ENST00000321961	ensembl	human	known	74_37	silent	SNP	0.046	A	A	4944762	G	A	4944762	2	1	19	1	0	0	0	0	0	0	0	1	11100	933	33	2		2	OR51G1	11	4944762	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		4944762	130061754	37	1319											
C11orf30	56946	genome.wustl.edu	37	chr11	76224485	76224485	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaatcttacccaaaccagtGacagcaactctacccaccag	4	15	2	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr11:76224485G>A	ENST00000529032.1	+	9	1419	c.1419G>A	c.(1417-1419)gtG>gtA	p.V473V	C11orf30_ENST00000524490.1_Silent_p.V389V|C11orf30_ENST00000334736.3_Silent_p.V473V|C11orf30_ENST00000533248.1_Silent_p.V487V|C11orf30_ENST00000525919.1_Silent_p.V474V|C11orf30_ENST00000524767.1_Silent_p.V488V|C11orf30_ENST00000525038.1_Silent_p.V488V|C11orf30_ENST00000343878.3_Silent_p.V473V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	473	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAAACCAGTGACAGCAACTC	0.368																																																	0								ENSG00000158636						123	106	112					11																	76224485		2200	4292	6492	C11orf30	SO:0001819	synonymous_variant	0			-	HGNC	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1419G>A	11.37:g.76224485G>A		Somatic	0	41	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	35	0	0	62	0.00	0	pfam_ENT_N,pfscan_ENT_N	p.V473	ENST00000529032.1	37	c.1419	CCDS8244.1	11																																																																																			-	NULL		0.368	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	protein_coding	OTTHUMT00000383288.2	G	NM_020193	-		76224485	1	no_errors	ENST00000334736	ensembl	human	known	74_37	silent	SNP	0.999	A	A	76224485	G	A	76224485	2	1	19	1	0	0	0	0	0	0	0	1	1638	1277	45	2		2	C11orf30	11	76224485	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	71279723	76224485	58782031	38	1320											
MMP3	4314	genome.wustl.edu	37	chr11	102714172	102714172	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcagttagtgttaattaCctgaacaaggttcatgctgg	11	6	2	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr11:102714172C>A	ENST00000299855.5	-	1	362		c.e1+1			NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)						cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GTGTTAATTACCTGAACAAGG	0.488																																																	0								ENSG00000149968						115	97	103					11																	102714172		2203	4299	6502	MMP3	SO:0001630	splice_region_variant	0			-	HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.105+1G>T	11.37:g.102714172C>A		Somatic	0	74	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	59	15.71	B2R8B8|Q3B7S0|Q6GRF8	Splice_Site	SNP	34	0	0	46	17.86	10	-	e1+1	ENST00000299855.5	37	c.105+1	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	C	8.079	0.772059	0.16051	.	.	ENSG00000149968	ENST00000299855	.	.	.	5.18	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1729	0.59609	0.1608:0.8392:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP3	102219382	1.000000	0.71417	0.999000	0.59377	0.037000	0.13140	4.614000	0.61183	1.537000	0.49254	-0.188000	0.12872	.	-	-		0.488	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	C	NM_002422	-	Intron	102714172	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	102714172	C	A	102714172	5	1	19	1	0	0	0	0	0	0	1	0	9668	521	18	3	1367	3	MMP3	11	102714172	Splice_Site	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	26489687	102714172	32292344	39	1321											
PHLDB1	23187	genome.wustl.edu	37	chr11	118509660	118509660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagatccgggctcaggccGtgcaggaatcagaacgcctg	15	12	2	2	rs577320042		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr11:118509660G>T	ENST00000361417.2	+	12	2998	c.2587G>T	c.(2587-2589)Gtg>Ttg	p.V863L	PHLDB1_ENST00000356063.5_Missense_Mutation_p.V863L|PHLDB1_ENST00000524713.1_5'Flank|AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_5'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	863										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGCTCAGGCCGTGCAGGAATC	0.622																																																	0								ENSG00000019144						36	34	35					11																	118509660		2200	4295	6495	PHLDB1	SO:0001583	missense	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2587G>T	11.37:g.118509660G>T	ENSP00000354498:p.Val863Leu	Somatic	0	104	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	90	8.16	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	26	0	0	40	16.67	8	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V863L	ENST00000361417.2	37	c.2587	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283177	0.59867	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.41400	1.0;1.0	4.22	4.22	0.49857	.	0.714896	0.13053	N	0.417505	T	0.40670	0.1126	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.45348	0.63;0.856;0.705;0.737	B;P;B;B	0.48654	0.095;0.585;0.181;0.242	T	0.04242	-1.0966	10	0.19590	T	0.45	-23.0964	12.3827	0.55315	0.0852:0.0:0.9148:0.0	.	607;863;863;863	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	L	863;622;227;863	ENSP00000354498:V863L;ENSP00000348359:V863L	ENSP00000348359:V863L	V	+	1	0	PHLDB1	118014870	0.989000	0.36119	0.957000	0.39632	0.886000	0.51366	1.917000	0.39996	2.171000	0.68590	0.563000	0.77884	GTG	-	NULL		0.622	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	G	NM_015157	-		118509660	1	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	SNP	0.839	T	T	118509660	G	T	118509660	3	4	19	1	0	0	0	0	1	0	0	0	11853	1145	40	3	2625	3	PHLDB1	11	118509660	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	15795488	118509660	16496856	40	1322											
CACNA1C	775	genome.wustl.edu	37	chr12	2224604	2224604	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcagcaatatgggaaAcccaagaagcagggcagcac	13	10	0	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr12:2224604A>T	ENST00000347598.4	+	2	264	c.264A>T	c.(262-264)aaA>aaT	p.K88N	CACNA1C_ENST00000399606.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K88N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K88N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K88N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K88N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.K88N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K88N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	88					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AATATGGGAAACCCAAGAAGC	0.652																																																	0								ENSG00000151067						26	35	32					12																	2224604		2175	4280	6455	CACNA1C	SO:0001583	missense	0			-	HGNC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.264A>T	12.37:g.2224604A>T	ENSP00000266376:p.Lys88Asn	Somatic	0	66	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.09	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	27	0	0	70	7.79	6	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.K88N	ENST00000347598.4	37	c.264	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457075	0.84317	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595	T;T;T;T;T;T;T;T;T;T;T;T;T;T;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;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.58	-7.55	0.01327	.	0.278854	0.30320	N	0.009895	T	0.59418	0.2192	L	0.45285	1.41	0.43579	D	0.995912	D;D;P;D;D;D;D;D;D;D;D;D;P;D;B;D;D;D;D;D	0.89917	1.0;1.0;0.645;0.996;0.996;1.0;0.997;0.98;0.999;0.996;1.0;0.998;0.887;0.996;0.367;1.0;0.996;0.996;1.0;1.0	D;D;B;D;D;D;D;D;D;D;D;D;P;D;B;D;D;D;D;D	0.83275	0.996;0.996;0.299;0.99;0.99;0.996;0.993;0.93;0.972;0.99;0.996;0.995;0.578;0.99;0.157;0.996;0.99;0.99;0.996;0.996	T	0.69150	-0.5221	9	.	.	.	.	20.1811	0.98205	0.3025:0.0:0.6975:0.0	.	88;88;88;88;88;88;88;88;88;88;88;88;88;88;88;88;88;88;88;88	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	88	ENSP00000336982:K88N;ENSP00000382563:K88N;ENSP00000437936:K88N;ENSP00000382552:K88N;ENSP00000382547:K88N;ENSP00000382506:K88N;ENSP00000382530:K88N;ENSP00000382546:K88N;ENSP00000382500:K88N;ENSP00000382549:K88N;ENSP00000266376:K88N;ENSP00000382515:K88N;ENSP00000382510:K88N;ENSP00000341092:K88N;ENSP00000382537:K88N;ENSP00000329877:K88N;ENSP00000382557:K88N;ENSP00000385724:K88N;ENSP00000382512:K88N;ENSP00000382542:K88N;ENSP00000382526:K88N;ENSP00000385896:K88N;ENSP00000382504:K88N	.	K	+	3	2	CACNA1C	2094865	0.236000	0.23804	0.870000	0.34147	0.962000	0.63368	-0.342000	0.07801	-1.483000	0.01858	-0.375000	0.07067	AAA	-	NULL		0.652	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	protein_coding	OTTHUMT00000317035.1	A	NM_000719	-		2224604	1	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	SNP	0.697	T	T	2224604	A	T	2224604	3	4	19	1	0	0	0	0	1	0	0	0	2542	40	2	5	270	5	CACNA1C	12	2224604	Missense_Mutation	SNP	A	TCGA-DX-A1KU-01A-32D-A24N-09		2224604	131627291	41	1323											
GUCY2C	2984	genome.wustl.edu	37	chr12	14827569	14827569	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaccagtaccttcaaaagtGagattcctgaaagcatgagc	9	9	1	4			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr12:14827569G>A	ENST00000261170.3	-	8	1210	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	358					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)	CTTCAAAAGTGAGATTCCTGA	0.388																																																	0								ENSG00000070019						114	121	119					12																	14827569		2203	4300	6503	GUCY2C	SO:0001819	synonymous_variant	0			-	HGNC		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.1074C>T	12.37:g.14827569G>A		Somatic	0	86	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	100	15.00	B2RMY6	Silent	SNP	31	0	0	61	17.57	13	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.L358	ENST00000261170.3	37	c.1074	CCDS8664.1	12																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	protein_coding	OTTHUMT00000400835.1	G		-		14827569	-1	no_errors	ENST00000261170	ensembl	human	known	74_37	silent	SNP	1.000	A	A	14827569	G	A	14827569	2	1	19	1	0	0	0	0	0	0	0	1	6898	1277	45	2		2	GUCY2C	12	14827569	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	12602965	14827569	119024326	42	1324											
AMHR2	269	genome.wustl.edu	37	chr12	53818234	53818234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaacctgacccaagaccGggcacaggtggaaatgcaag	13	11	0	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr12:53818234G>A	ENST00000257863.4	+	2	292	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	AMHR2_ENST00000550311.1_Missense_Mutation_p.R71Q|AMHR2_ENST00000379791.3_Missense_Mutation_p.R71Q	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	71					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ACCCAAGACCGGGCACAGGTG	0.582																																																	0								ENSG00000135409						31	32	32					12																	53818234		2203	4300	6503	AMHR2	SO:0001583	missense	0			-	HGNC	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.212G>A	12.37:g.53818234G>A	ENSP00000257863:p.Arg71Gln	Somatic	0	58	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	42	0	0	39	20.41	10	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R71Q	ENST00000257863.4	37	c.212	CCDS8858.1	12	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767338	0.15983	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.97575	-4.44;-4.44;-4.44	3.98	-2.41	0.06562	TGF-beta receptor/activin receptor, type I/II (1);	0.865133	0.09448	N	0.800821	D	0.88485	0.6449	N	0.04880	-0.145	0.24495	N	0.994283	B;B	0.13145	0.0;0.007	B;B	0.04013	0.001;0.001	T	0.80331	-0.1427	10	0.14656	T	0.56	.	6.111	0.20100	0.213:0.0:0.6091:0.178	.	71;71	F8W1D2;Q16671	.;AMHR2_HUMAN	Q	71	ENSP00000257863:R71Q;ENSP00000446661:R71Q;ENSP00000369117:R71Q	ENSP00000257863:R71Q	R	+	2	0	AMHR2	52104501	0.176000	0.23096	0.995000	0.50966	0.996000	0.88848	-1.350000	0.02624	-0.288000	0.09051	-0.302000	0.09304	CGG	-	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Activin_rcpt		0.582	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	protein_coding	OTTHUMT00000407048.1	G	NM_020547	-		53818234	1	no_errors	ENST00000257863	ensembl	human	known	74_37	missense	SNP	0.989	A	A	53818234	G	A	53818234	3	1	19	1	0	0	0	0	1	0	0	0	573	1116	39	1	218	1	AMHR2	12	53818234	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	38990665	53818234	80033661	43	1325											
NPAS3	64067	genome.wustl.edu	37	chr14	33836422	33836422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcgaaggagaagccccaGtgcactagccattgaagtat	11	10	0	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr14:33836422G>T	ENST00000356141.4	+	4	416	c.416G>T	c.(415-417)aGt>aTt	p.S139I	NPAS3_ENST00000551008.1_Missense_Mutation_p.S37I|NPAS3_ENST00000346562.2_Missense_Mutation_p.S107I|NPAS3_ENST00000548645.1_Missense_Mutation_p.S109I|NPAS3_ENST00000341321.4_Missense_Mutation_p.S139I|NPAS3_ENST00000357798.5_Missense_Mutation_p.S126I|NPAS3_ENST00000551492.1_Missense_Mutation_p.S144I|NPAS3_ENST00000547068.1_Missense_Mutation_p.S35I			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	139					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGAAGCCCCAGTGCACTAGCC	0.348																																																	0								ENSG00000151322						59	58	59					14																	33836422		2203	4300	6503	NPAS3	SO:0001583	missense	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.416G>T	14.37:g.33836422G>T	ENSP00000348460:p.Ser139Ile	Somatic	0	50	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	46	0	0	59	25.32	20	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.S139I	ENST00000356141.4	37	c.416	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240498	0.58995	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000547068;ENST00000551008;ENST00000546849	T;T;T;T;T;T;T	0.48836	3.36;3.16;3.18;0.8;3.23;3.22;3.16	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	N	0.19112	0.55	0.52501	D	0.999952	B;P;P;P;P	0.46784	0.253;0.884;0.815;0.884;0.806	B;B;B;B;B	0.40901	0.168;0.283;0.147;0.283;0.343	T	0.29119	-1.0022	10	0.46703	T	0.11	.	19.4614	0.94918	0.0:0.0:1.0:0.0	.	37;109;139;107;126	F8W0C2;Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;.;NPAS3_HUMAN;.;.	I	116;144;107;139;109;139;126;35;37;49	ENSP00000448373:S116I;ENSP00000450392:S144I;ENSP00000319610:S107I;ENSP00000344158:S139I;ENSP00000448916:S109I;ENSP00000348460:S139I;ENSP00000350446:S126I	ENSP00000344158:S139I	S	+	2	0	NPAS3	32906173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.138000	0.71717	2.607000	0.88179	0.655000	0.94253	AGT	-	NULL		0.348	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	G		-		33836422	1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33836422	G	T	33836422	3	4	19	1	0	0	0	0	1	0	0	0	10566	1029	36	3	485	3	NPAS3	14	33836422	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		33836422	73513118	44	1326											
C14orf106	55320	genome.wustl.edu	37	chr14	45693556	45693556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaattttggtaatagtctgGtatttttcttaaagtcagag	8	4	4	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr14:45693556G>T	ENST00000310806.4	-	11	2692	c.2234C>A	c.(2233-2235)aCc>aAc	p.T745N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	745					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TAATAGTCTGGTATTTTTCTT	0.338																																																	0								ENSG00000129534																																			MIS18BP1	SO:0001583	missense	0			-	HGNC	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2234C>A	14.37:g.45693556G>T	ENSP00000309790:p.Thr745Asn	Somatic	0	57	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	44	0	0	45	0.00	0	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T745N	ENST00000310806.4	37	c.2234	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.155876	0.01686	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.72	1.18	0.20946	.	0.843110	0.10862	N	0.625994	T	0.11067	0.0270	L	0.38175	1.15	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.35375	-0.9791	10	0.25751	T	0.34	-0.1655	3.0808	0.06261	0.3338:0.0:0.4703:0.1959	.	745	Q6P0N0	M18BP_HUMAN	N	745	ENSP00000309790:T745N	ENSP00000309790:T745N	T	-	2	0	MIS18BP1	44763306	0.000000	0.05858	0.018000	0.16275	0.057000	0.15508	0.222000	0.17699	0.412000	0.25729	-0.140000	0.14226	ACC	-	NULL		0.338	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	protein_coding	OTTHUMT00000276795.2	G		-		45693556	-1	no_errors	ENST00000310806	ensembl	human	known	74_37	missense	SNP	0.003	T	T	45693556	G	T	45693556	3	4	19	1	0	0	0	0	1	0	0	0	1740	1261	44	3	1192	3	C14orf106	14	45693556	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	11857134	45693556	61655984	45	1327											
GABRG3	2567	genome.wustl.edu	37	chr15	27572085	27572085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcccagacaccatcttcCgcaattctaaaaccgcagag	7	14	2	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr15:27572085C>T	ENST00000333743.6	+	4	654	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	GABRG3_ENST00000555083.1_Missense_Mutation_p.R134C	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	134					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)			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)	CACCATCTTCCGCAATTCTAA	0.473																																					NSCLC(114;800 1656 7410 37729 45293)												0								ENSG00000182256						108	107	108					15																	27572085		1972	4184	6156	GABRG3	SO:0001583	missense	0			-	HGNC		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.400C>T	15.37:g.27572085C>T	ENSP00000331912:p.Arg134Cys	Somatic	0	62	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	36	0	0	32	38.46	20	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R134C	ENST00000333743.6	37	c.400	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336239	0.60963	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.78126	-1.15;-1.15;-1.15	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91127	0.4934	10	0.87932	D	0	.	19.0355	0.92976	0.0:1.0:0.0:0.0	.	134;134	Q99928;G3V594	GBRG3_HUMAN;.	C	134;134;76	ENSP00000331912:R134C;ENSP00000452244:R134C;ENSP00000451862:R76C	ENSP00000331912:R134C	R	+	1	0	GABRG3	25154831	1.000000	0.71417	0.998000	0.56505	0.435000	0.31806	2.160000	0.42348	2.722000	0.93159	0.655000	0.94253	CGC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	protein_coding	OTTHUMT00000103584.2	C		-		27572085	1	no_errors	ENST00000333743	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27572085	C	T	27572085	3	4	19	1	0	0	0	0	1	0	0	0	6175	652	23	1	414	1	GABRG3	15	27572085	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		27572085	74959307	46	1328											
PDIA2	64714	genome.wustl.edu	37	chr16	335673	335673	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagcgtccatcactgctttCtgccatgcagtcctcaacgg	9	15	3	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr16:335673C>T	ENST00000219406.6	+	7	1107	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	PDIA2_ENST00000404312.1_Silent_p.F360F	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	363					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCACTGCTTTCTGCCATGCAG	0.597																																																	0								ENSG00000185615						49	58	55					16																	335673		2076	4205	6281	PDIA2	SO:0001819	synonymous_variant	0			-	HGNC	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1089C>T	16.37:g.335673C>T		Somatic	0	77	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	65	17.72	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	34	0	0	33	17.50	7	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase	p.F363	ENST00000219406.6	37	c.1089	CCDS42089.1	16																																																																																			-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.597	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDIA2	protein_coding	OTTHUMT00000139315.3	C	NM_006849	-		335673	1	no_errors	ENST00000219406	ensembl	human	known	74_37	silent	SNP	1.000	T	T	335673	C	T	335673	2	4	19	1	0	0	0	0	0	0	0	1	11670	912	32	2		2	PDIA2	16	335673	Silent	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		335673	90019080	47	1329											
ZSCAN10	84891	genome.wustl.edu	37	chr16	3139121	3139121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctcgcgggcgtgggtgcGcaggtggcgcagcaggtggg	22	10	1	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr16:3139121G>A	ENST00000252463.2	-	5	2236	c.2149C>T	c.(2149-2151)Cgc>Tgc	p.R717C	RNU1-22P_ENST00000363334.1_RNA|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R635C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R378C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	717					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCGTGGGTGCGCAGGTGGCGC	0.716																																																	0								ENSG00000130182						12	13	13					16																	3139121		2159	4262	6421	ZSCAN10	SO:0001583	missense	0			-	HGNC	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.2149C>T	16.37:g.3139121G>A	ENSP00000252463:p.Arg717Cys	Somatic	0	26	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	25	0	0	30	25.00	10	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R717C	ENST00000252463.2	37	c.2149	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396608	0.62177	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.58506	0.33	4.95	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000188	T	0.75989	0.3925	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.998	T	0.76597	-0.2901	10	0.87932	D	0	-20.4977	9.8594	0.41105	0.0:0.0:0.6261:0.3739	.	378;650;717	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	C	650;717	ENSP00000252463:R717C	ENSP00000252463:R717C	R	-	1	0	ZSCAN10	3079122	0.000000	0.05858	0.978000	0.43139	0.981000	0.71138	-0.234000	0.09028	0.380000	0.24823	0.561000	0.74099	CGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	protein_coding	OTTHUMT00000437124.2	G	NM_032805	-		3139121	-1	no_errors	ENST00000252463	ensembl	human	known	74_37	missense	SNP	0.988	A	A	3139121	G	A	3139121	3	1	19	1	0	0	0	0	1	0	0	0	18234	1087	38	1	32	1	ZSCAN10	16	3139121	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	2803448	3139121	87215632	48	1330											
ZNF267	10308	genome.wustl.edu	37	chr16	31927605	31927605	+	Silent	SNP	C	C	A													ggtcatacctcactacacatCggagaagacatactggagag							TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr16:31927605C>A	ENST00000300870.10	+	4	2244	c.2035C>A	c.(2035-2037)Cgg>Agg	p.R679R		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	679					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CACTACACATCGGAGAAGACA	0.443																																																	0								ENSG00000185947						107	97	100					16																	31927605		2197	4300	6497	ZNF267	SO:0001819	synonymous_variant	0			-	HGNC	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2035C>A	16.37:g.31927605C>A		Somatic	0	40	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	30	0	0	52	24.29	17	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R679	ENST00000300870.10	37	c.2035	CCDS32440.1	16																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	protein_coding	OTTHUMT00000432446.2	C	NM_003414	-		31927605	1	no_errors	ENST00000300870	ensembl	human	known	74_37	silent	SNP	0.090	A	A	31927605	C	A	31927605	2	1	19	1	0	0	0	0	0	0	0	1	17813	875	31	3		3	ZNF267	16	31927605	Silent	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	28788484	31927605	58427148	49	1331	17	2									
ZNF267	10308	genome.wustl.edu	37	chr16	31927606	31927606	+	Missense_Mutation	SNP	G	G	T													gtcatacctcactacacatcGgagaagacatactggagaga							TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr16:31927606G>T	ENST00000300870.10	+	4	2245	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	679					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ACTACACATCGGAGAAGACAT	0.443																																																	0								ENSG00000185947						108	97	101					16																	31927606		2197	4300	6497	ZNF267	SO:0001583	missense	0			-	HGNC	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2036G>T	16.37:g.31927606G>T	ENSP00000300870:p.Arg679Leu	Somatic	0	40	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	31	0	0	53	24.29	17	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R679L	ENST00000300870.10	37	c.2036	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	10.69	1.422335	0.25639	.	.	ENSG00000185947	ENST00000300870	T	0.14391	2.51	0.468	-0.6	0.11642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.00841	-1.15	0.09310	N	0.999999	B	0.12013	0.005	B	0.04013	0.001	T	0.37572	-0.9700	9	0.62326	D	0.03	.	3.7501	0.08563	0.6241:0.0:0.3759:0.0	.	679	Q14586	ZN267_HUMAN	L	679	ENSP00000300870:R679L	ENSP00000300870:R679L	R	+	2	0	ZNF267	31835107	0.000000	0.05858	0.097000	0.21041	0.092000	0.18411	-0.008000	0.12788	-0.344000	0.08338	-0.339000	0.08088	CGG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	protein_coding	OTTHUMT00000432446.2	G	NM_003414	-		31927606	1	no_errors	ENST00000300870	ensembl	human	known	74_37	missense	SNP	0.086	T	T	31927606	G	T	31927606	3	4	19	1	0	0	0	0	1	0	0	0	17813	1116	39	3	2050	3	ZNF267	16	31927606	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	1	31927606	58427147	50	1332	17	2									
HYDIN	54768	genome.wustl.edu	37	chr16	70863604	70863604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggtgggcctccagggTgatgaactcaggcccctccc	13	14	1	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr16:70863604T>A	ENST00000393567.2	-	81	14179	c.14029A>T	c.(14029-14031)Acc>Tcc	p.T4677S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4677					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)				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)				GCCTCCAGGGTGATGAACTCA	0.592																																																	0								ENSG00000157423						1	1	1					16																	70863604		704	1865	2569	HYDIN	SO:0001583	missense	0			-	HGNC	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.14029A>T	16.37:g.70863604T>A	ENSP00000377197:p.Thr4677Ser	Somatic	0	68	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.43	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	16	0	0	22	18.52	5	superfamily_P-loop_NTPase,superfamily_PapD-like	p.T4677S	ENST00000393567.2	37	c.14029	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	6.830	0.522286	0.13066	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.2	4.09	0.47781	.	0.577219	0.12854	U	0.433734	T	0.00875	0.0029	N	0.17474	0.49	0.35119	D	0.766886	B	0.25169	0.119	B	0.35240	0.198	T	0.52749	-0.8534	10	0.19590	T	0.45	.	5.1746	0.15127	0.0:0.1643:0.2043:0.6314	.	4676	F8WD23	.	S	4677;4676	ENSP00000377197:T4677S	ENSP00000313052:T4676S	T	-	1	0	HYDIN	69421105	0.987000	0.35691	1.000000	0.80357	0.995000	0.86356	0.355000	0.20163	1.975000	0.57531	0.414000	0.27820	ACC	-	NULL		0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	T		-		70863604	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.293	A	A	70863604	T	A	70863604	3	1	19	1	0	0	0	0	1	0	0	0	7469	1696	59	5	1360	5	HYDIN	16	70863604	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09	38935998	70863604	19491149	51	1333											
MYH4	4622	genome.wustl.edu	37	chr17	10347962	10347962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaagctttgactttggtttGcaatttgtccaccaagtcct	8	9	0	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr17:10347962G>T	ENST00000255381.2	-	39	5736	c.5626C>A	c.(5626-5628)Caa>Aaa	p.Q1876K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1876					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						ACTTTGGTTTGCAATTTGTCC	0.448																																																	0								ENSG00000264424						121	119	120					17																	10347962		2203	4300	6503	MYH4	SO:0001583	missense	0			-	HGNC		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.5626C>A	17.37:g.10347962G>T	ENSP00000255381:p.Gln1876Lys	Somatic	0	78	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	84	11.58		Missense_Mutation	SNP	39	0	0	49	19.67	12	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1876K	ENST00000255381.2	37	c.5626	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696669	0.88830	.	.	ENSG00000141048	ENST00000255381	D	0.82803	-1.65	4.79	4.79	0.61399	Myosin tail (1);	0.000000	0.35772	U	0.002995	D	0.93831	0.8027	H	0.95679	3.705	0.58432	D	0.999997	D	0.76494	0.999	D	0.73708	0.981	D	0.95475	0.8555	10	0.87932	D	0	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	1876	Q9Y623	MYH4_HUMAN	K	1876	ENSP00000255381:Q1876K	ENSP00000255381:Q1876K	Q	-	1	0	MYH4	10288687	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	9.601000	0.98297	2.642000	0.89623	0.655000	0.94253	CAA	-	pfam_Myosin_tail		0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533	-		10347962	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10347962	G	T	10347962	3	4	19	1	0	0	0	0	1	0	0	0	10039	1328	46	3	201	3	MYH4	17	10347962	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		10347962	70847248	52	1334											
DDX5	1655	genome.wustl.edu	37	chr17	62499216	62499216	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattagagtttgcctatcagGctaatggattttggggggaa	13	5	1	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr17:62499216G>T	ENST00000225792.5	-	8	1212	c.811C>A	c.(811-813)Cct>Act	p.P271T	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Splice_Site_p.P192T|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Splice_Site_p.P271T	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	271	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGCCTATCAGGCTAATGGATT	0.363			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0								ENSG00000108654						158	160	160					17																	62499216		2203	4300	6503	DDX5	SO:0001630	splice_region_variant	0			-	HGNC	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.811-1C>A	17.37:g.62499216G>T		Somatic	0	28	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	46	0	0	60	0.00	0	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P271T	ENST00000225792.5	37	c.811	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645100	0.47258	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T	0.15256	2.44	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.62088	1.915	0.80722	D	1	D;P;P;P	0.69078	0.997;0.882;0.808;0.882	D;P;P;P	0.87578	0.998;0.816;0.703;0.816	T	0.15150	-1.0447	10	0.87932	D	0	-10.2418	20.2985	0.98592	0.0:0.0:1.0:0.0	.	192;271;260;271	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	T	271;201;260	ENSP00000225792:P260T	ENSP00000225792:P260T	P	-	1	0	DDX5	59929678	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.231000	0.95317	2.793000	0.96121	0.655000	0.94253	CCT	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.363	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	protein_coding	OTTHUMT00000444030.1	G	NM_004396	-	Missense_Mutation	62499216	-1	no_errors	ENST00000225792	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62499216	G	T	62499216	5	4	19	1	0	0	0	0	0	0	1	0	4369	1217	42	3	1057	3	DDX5	17	62499216	Splice_Site	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	52151254	62499216	18695994	53	1335											
MYO5B	4645	genome.wustl.edu	37	chr18	47421361	47421361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtcctccaagatcttgcGctccgagtgggccctctgca	12	15	2	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr18:47421361G>T	ENST00000285039.7	-	22	3294	c.2995C>A	c.(2995-2997)Cgc>Agc	p.R999S	MYO5B_ENST00000324581.6_Missense_Mutation_p.R140S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	999					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)		AAGATCTTGCGCTCCGAGTGG	0.647																																																	0								ENSG00000167306						64	69	67					18																	47421361		2080	4200	6280	MYO5B	SO:0001583	missense	0			-	HGNC	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.2995C>A	18.37:g.47421361G>T	ENSP00000285039:p.Arg999Ser	Somatic	0	75	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	22	0	0	55	20.29	14	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R999S	ENST00000285039.7	37	c.2995	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131949	0.77662	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.20200	2.09;2.09	5.81	4.87	0.63330	.	0.309199	0.32608	N	0.005874	T	0.17704	0.0425	L	0.40543	1.245	0.53688	D	0.999971	B;D	0.54397	0.04;0.966	B;B	0.43916	0.031;0.436	T	0.01639	-1.1306	10	0.15499	T	0.54	.	11.3569	0.49621	0.0:0.0:0.6245:0.3755	.	999;140	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	S	999;140	ENSP00000285039:R999S;ENSP00000315531:R140S	ENSP00000285039:R999S	R	-	1	0	MYO5B	45675359	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.770000	0.55310	2.746000	0.94184	0.591000	0.81541	CGC	-	NULL		0.647	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	G		-		47421361	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47421361	G	T	47421361	3	4	19	1	0	0	0	0	1	0	0	0	10081	1087	38	3	2627	3	MYO5B	18	47421361	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		47421361	30655887	54	1336											
WDR7	23335	genome.wustl.edu	37	chr18	54423947	54423947	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcctgactgaagaagcctCtaggccgaatactgctctta	8	12	2	3			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr18:54423947C>G	ENST00000254442.3	+	15	2334	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.S708C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	708					hematopoietic progenitor cell differentiation (GO:0002244)			p.S708F(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAAGAAGCCTCTAGGCCGAAT	0.428																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000091157						77	80	79					18																	54423947		2203	4300	6503	WDR7	SO:0001583	missense	0			-	HGNC	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2123C>G	18.37:g.54423947C>G	ENSP00000254442:p.Ser708Cys	Somatic	0	49	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	36	0	0	44	26.67	16	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S708C	ENST00000254442.3	37	c.2123	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938254	0.73557	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.68331	-0.32;-0.31	5.96	5.96	0.96718	.	0.117676	0.64402	D	0.000010	T	0.64821	0.2633	N	0.19112	0.55	0.50313	D	0.999861	P;D	0.58620	0.473;0.983	B;P	0.50231	0.134;0.635	T	0.68435	-0.5409	10	0.66056	D	0.02	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	708;708	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	708	ENSP00000254442:S708C;ENSP00000350187:S708C	ENSP00000254442:S708C	S	+	2	0	WDR7	52574945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.053000	0.71089	2.826000	0.97356	0.655000	0.94253	TCT	-	NULL		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	protein_coding	OTTHUMT00000256062.1	C		-		54423947	1	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54423947	C	G	54423947	3	3	19	1	0	0	0	0	1	0	0	0	17327	913	32	4	2177	4	WDR7	18	54423947	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	7002586	54423947	23653301	55	1337											
NETO1	81832	genome.wustl.edu	37	chr18	70450953	70450953	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgaaatcggctgttTcgactgccctcatctgccca	8	14	3	1			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr18:70450953T>A	ENST00000327305.6	-	7	1485	c.828A>T	c.(826-828)cgA>cgT	p.R276R	NETO1_ENST00000299430.2_Silent_p.R275R|NETO1_ENST00000583169.1_Silent_p.R276R	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATCGGCTGTTTCGACTGCCCT	0.458																																																	0								ENSG00000166342						158	139	145					18																	70450953		2203	4300	6503	NETO1	SO:0001819	synonymous_variant	0			-	HGNC	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.828A>T	18.37:g.70450953T>A		Somatic	0	62	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00	Q86W85|Q8ND78|Q8TDF4	Silent	SNP	36	0	0	43	23.21	13	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.R276	ENST00000327305.6	37	c.828	CCDS12000.1	18																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	protein_coding	OTTHUMT00000256301.2	T	NM_138999	-		70450953	-1	no_errors	ENST00000327305	ensembl	human	known	74_37	silent	SNP	0.009	A	A	70450953	T	A	70450953	2	1	19	1	0	0	0	0	0	0	0	1	10341	1770	62	5		5	NETO1	18	70450953	Silent	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09	16027006	70450953	7626295	56	1338											
CHAF1A	10036	genome.wustl.edu	37	chr19	4442306	4442306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggaggagggcgActgtatgatcgtggatgtcc	19	5	0	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:4442306A>C	ENST00000301280.5	+	14	2839	c.2738A>C	c.(2737-2739)gAc>gCc	p.D913A		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	913	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		gaggaggGCGACTGTATGATC	0.582								Chromatin Structure																																									0								ENSG00000167670						131	88	103					19																	4442306		2203	4300	6503	CHAF1A	SO:0001583	missense	0			-	HGNC	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2738A>C	19.37:g.4442306A>C	ENSP00000301280:p.Asp913Ala	Somatic	0	68	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	33	0	0	36	14.29	6	pfam_CAF1A	p.D913A	ENST00000301280.5	37	c.2738	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625144	0.46840	.	.	ENSG00000167670	ENST00000301280	T	0.33654	1.4	5.02	3.96	0.45880	.	.	.	.	.	T	0.52757	0.1754	M	0.65498	2.005	0.51233	D	0.999918	D	0.76494	0.999	P	0.61874	0.895	T	0.54873	-0.8228	9	0.87932	D	0	-28.1626	11.1284	0.48333	0.8449:0.1551:0.0:0.0	.	913	Q13111	CAF1A_HUMAN	A	913	ENSP00000301280:D913A	ENSP00000301280:D913A	D	+	2	0	CHAF1A	4393306	1.000000	0.71417	0.249000	0.24280	0.030000	0.12068	5.367000	0.66127	0.806000	0.34183	0.459000	0.35465	GAC	-	NULL		0.582	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	protein_coding	OTTHUMT00000458310.2	A	NM_005483	-		4442306	1	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	SNP	1.000	C	C	4442306	A	C	4442306	3	2	19	1	0	0	0	0	1	0	0	0	3313	275	10	5	2792	5	CHAF1A	19	4442306	Missense_Mutation	SNP	A	TCGA-DX-A1KU-01A-32D-A24N-09		4442306	54686677	57	1339											
MUC16	94025	genome.wustl.edu	37	chr19	9091072	9091072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggcttgtttcacctctgGaatttggggtccctttaggt	11	10	2	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:9091072G>A	ENST00000397910.4	-	1	946	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	248	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)		p.S248F(1)		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						TTCACCTCTGGAATTTGGGGT	0.468																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000181143						120	118	118					19																	9091072		1904	4133	6037	MUC16	SO:0001583	missense	0			-	HGNC	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.743C>T	19.37:g.9091072G>A	ENSP00000381008:p.Ser248Phe	Somatic	0	63	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	36	0	0	42	31.15	19	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S248F	ENST00000397910.4	37	c.743	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.418	-0.573756	0.03882	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.49	-0.828	0.10799	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.18263	0.021	T	0.43310	-0.9399	8	0.87932	D	0	.	3.9786	0.09486	0.4468:0.0:0.5532:0.0	.	248	B5ME49	.	F	248	ENSP00000381008:S248F	ENSP00000381008:S248F	S	-	2	0	MUC16	8952072	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.391000	0.20784	-0.170000	0.10816	0.313000	0.20887	TCC	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9091072	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9091072	G	A	9091072	3	1	19	1	0	0	0	0	1	0	0	0	9975	1174	41	2	43116	2	MUC16	19	9091072	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	4648766	9091072	50037911	58	1340											
KIAA1683	80726	genome.wustl.edu	37	chr19	18378134	18378134	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcggcgggacgccgtcttGccttcggcaggctgttgcgg	17	13	1	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:18378134G>T	ENST00000600328.3	-	3	409	c.216C>A	c.(214-216)ggC>ggA	p.G72G	KIAA1683_ENST00000392413.4_Silent_p.G72G|KIAA1683_ENST00000600359.3_Silent_p.G26G			Q9H0B3	K1683_HUMAN	KIAA1683	72						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						ACGCCGTCTTGCCTTCGGCAG	0.632																																																	0								ENSG00000130518						61	63	62					19																	18378134		2203	4300	6503	KIAA1683	SO:0001819	synonymous_variant	0			-	HGNC	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.216C>A	19.37:g.18378134G>T		Somatic	0	78	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	27	0	0	61	0.00	0	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.G72	ENST00000600328.3	37	c.216	CCDS32958.1	19																																																																																			-	NULL		0.632	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	G		-		18378134	-1	no_errors	ENST00000392413	ensembl	human	known	74_37	silent	SNP	0.003	T	T	18378134	G	T	18378134	2	4	19	1	0	0	0	0	0	0	0	1	8253	1306	46	3		3	KIAA1683	19	18378134	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	9287062	18378134	40750849	59	1341											
FCGBP	8857	genome.wustl.edu	37	chr19	40392869	40392869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggcacggatctggccGttggccagcaccacgggcag	17	12	1	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:40392869G>A	ENST00000221347.6	-	16	7642	c.7635C>T	c.(7633-7635)aaC>aaT	p.N2545N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2545	VWFD 6. {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)			GGATCTGGCCGTTGGCCAGCA	0.587																																																	0								ENSG00000090920						1	1	1					19																	40392869		1250	2373	3623	FCGBP	SO:0001819	synonymous_variant	0			-	HGNC	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.7635C>T	19.37:g.40392869G>A		Somatic	0	45	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	O95784	Silent	SNP	25	0	0	49	7.55	4	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.N2545	ENST00000221347.6	37	c.7635	CCDS12546.1	19																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890	-		40392869	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	SNP	0.003	A	A	40392869	G	A	40392869	2	1	19	1	0	0	0	0	0	0	0	1	5780	1136	40	1		1	FCGBP	19	40392869	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	22014735	40392869	18736114	60	1342											
KLK13	26085	genome.wustl.edu	37	chr19	51560014	51560014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttctgttacagaccaGggggcccccagagtcaccct	11	14	2	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:51560014G>C	ENST00000595793.1	-	5	706	c.664C>G	c.(664-666)Ctg>Gtg	p.L222V	KLK13_ENST00000335422.3_Missense_Mutation_p.L70V|KLK13_ENST00000595547.1_Missense_Mutation_p.L149V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	222	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTACAGACCAGGGGGCCCCCA	0.582																																																	0								ENSG00000167759						55	59	58					19																	51560014		2203	4300	6503	KLK13	SO:0001583	missense	0			-	HGNC		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.664C>G	19.37:g.51560014G>C	ENSP00000470555:p.Leu222Val	Somatic	0	37	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	30	0	0	35	36.36	20	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L222V	ENST00000595793.1	37	c.664	CCDS12822.1	19	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743654	0.30865	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.95622	-3.76	4.41	2.18	0.27775	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38326	N	0.001729	D	0.96043	0.8711	M	0.79693	2.465	0.80722	D	1	D;P;D	0.89917	1.0;0.78;0.982	D;B;P	0.91635	0.999;0.429;0.755	D	0.94022	0.7293	10	0.05525	T	0.97	.	6.7989	0.23740	0.0958:0.3405:0.5637:0.0	.	70;149;222	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	V	222;70	ENSP00000334079:L70V	ENSP00000156476:L222V	L	-	1	2	KLK13	56251826	0.790000	0.28787	0.996000	0.52242	0.522000	0.34438	0.986000	0.29590	0.584000	0.29591	-0.189000	0.12847	CTG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.582	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	protein_coding	OTTHUMT00000464298.2	G	NM_015596	-		51560014	-1	no_errors	ENST00000595793	ensembl	human	known	74_37	missense	SNP	1.000	C	C	51560014	G	C	51560014	3	2	19	1	0	0	0	0	1	0	0	0	8403	991	35	4	173	4	KLK13	19	51560014	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	11167145	51560014	7568969	61	1343											
LAIR2	3904	genome.wustl.edu	37	chr19	55019149	55019149	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcggctgagccaggcactgtGatctccccggggagccatgt	14	13	1	2			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:55019149G>T	ENST00000301202.2	+	3	236	c.114G>T	c.(112-114)gtG>gtT	p.V38V	LAIR2_ENST00000351841.2_Silent_p.V38V	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	38	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAGGCACTGTGATCTCCCCGG	0.572																																																	0								ENSG00000167618						108	119	115					19																	55019149		2203	4300	6503	LAIR2	SO:0001819	synonymous_variant	0			-	HGNC	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.114G>T	19.37:g.55019149G>T		Somatic	0	30	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q6PEZ4	Silent	SNP	40	0	0	54	14.29	9	smart_Ig_sub	p.V38	ENST00000301202.2	37	c.114	CCDS12897.1	19																																																																																			-	smart_Ig_sub		0.572	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	protein_coding	OTTHUMT00000140801.1	G		-		55019149	1	no_errors	ENST00000301202	ensembl	human	known	74_37	silent	SNP	0.003	T	T	55019149	G	T	55019149	2	4	19	1	0	0	0	0	0	0	0	1	8605	1277	45	3		3	LAIR2	19	55019149	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	3459135	55019149	4109834	62	1344											
NLRP5	126206	genome.wustl.edu	37	chr19	56530761	56530761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagagacagaagaaCaaggtgaggaaaatagatgt	13	5	0	5	rs565850613		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr19:56530761C>A	ENST00000390649.3	+	5	619	c.619C>A	c.(619-621)Caa>Aaa	p.Q207K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	207					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GACAGAAGAACAAGGTGAGGA	0.378													C|||	1	0.000199681	0	0	5008	,	,		23607	0		0.001	False		,,,				2504	0																0								ENSG00000171487						72	73	73					19																	56530761		1840	4085	5925	NLRP5	SO:0001583	missense	0			-	HGNC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.619C>A	19.37:g.56530761C>A	ENSP00000375063:p.Gln207Lys	Somatic	0	59	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	49	27.94	A8MTY4|Q86W29	Missense_Mutation	SNP	38	2.56	1	44	27.87	17	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q207K	ENST00000390649.3	37	c.619	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.068350	0.00382	.	.	ENSG00000171487	ENST00000390649	T	0.71461	-0.57	2.04	0.996	0.19844	.	.	.	.	.	T	0.42245	0.1194	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.25676	-1.0125	9	0.08381	T	0.77	.	5.9005	0.18964	0.3117:0.6883:0.0:0.0	.	207	P59047	NALP5_HUMAN	K	207	ENSP00000375063:Q207K	ENSP00000375063:Q207K	Q	+	1	0	NLRP5	61222573	0.886000	0.30341	0.257000	0.24404	0.008000	0.06430	0.549000	0.23329	0.454000	0.26884	-0.122000	0.15005	CAA	-	NULL		0.378	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	protein_coding	OTTHUMT00000313735.1	C	NM_153447	-		56530761	1	no_errors	ENST00000390649	ensembl	human	known	74_37	missense	SNP	0.266	A	A	56530761	C	A	56530761	3	1	19	1	0	0	0	0	1	0	0	0	10482	479	17	3	637	3	NLRP5	19	56530761	Missense_Mutation	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09	1511612	56530761	2598222	63	1345											
FLRT3	23767	genome.wustl.edu	37	chr20	14306856	14306856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtctcaaagcagtcaTaggtagagcaagtttccaag	11	8	2	2	rs201525960		TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr20:14306856T>C	ENST00000378053.3	-	2	1553	c.1297A>G	c.(1297-1299)Atg>Gtg	p.M433V	FLRT3_ENST00000341420.4_Missense_Mutation_p.M433V|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	433	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|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)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAAGCAGTCATAGGTAGAGCA	0.438																																																	0								ENSG00000125848	T	,VAL/MET,VAL/MET	0,4406		0,0,2203	97	95	96		,1297,1297	4.8	1	20		96	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense	FLRT3,MACROD2	NM_080676.5,NM_198391.2,NM_013281.3	,21,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,benign,benign	,433/650,433/650	14306856	1,13005	2203	4300	6503	FLRT3	SO:0001583	missense	0			-	HGNC	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1297A>G	20.37:g.14306856T>C	ENSP00000367292:p.Met433Val	Somatic	0	28	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	49	0	0	42	46.84	37	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.M433V	ENST00000378053.3	37	c.1297	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.870401	0.00542	0.0	1.16E-4	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.37235	1.21;1.21	5.96	4.83	0.62350	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.044525	0.85682	D	0.000000	T	0.21267	0.0512	N	0.24115	0.695	0.58432	D	0.999995	B	0.12630	0.006	B	0.08055	0.003	T	0.07481	-1.0770	10	0.02654	T	1	-10.2114	12.3588	0.55190	0.1265:0.0:0.0:0.8735	.	433	Q9NZU0	FLRT3_HUMAN	V	433	ENSP00000367292:M433V;ENSP00000339912:M433V	ENSP00000339912:M433V	M	-	1	0	FLRT3	14254856	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.119000	0.64679	1.020000	0.39573	0.528000	0.53228	ATG	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	protein_coding	OTTHUMT00000078075.1	T	NM_013281	rs201525960		14306856	-1	no_errors	ENST00000341420	ensembl	human	known	74_37	missense	SNP	1.000	C	C	14306856	T	C	14306856	3	2	19	1	0	0	0	0	1	0	0	0	5942	1406	49	5	656	5	FLRT3	20	14306856	Missense_Mutation	SNP	T	TCGA-DX-A1KU-01A-32D-A24N-09		14306856	48718664	64	1346											
FLRT3	23767	genome.wustl.edu	37	chr20	14307796	14307796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgaaagtgaatcataagtGatagtccttatgttattttc	7	4	1	3			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr20:14307796G>A	ENST00000378053.3	-	2	613	c.357C>T	c.(355-357)atC>atT	p.I119I	FLRT3_ENST00000341420.4_Silent_p.I119I|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	119					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|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)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATCATAAGTGATAGTCCTTA	0.348																																																	0								ENSG00000125848						145	151	149					20																	14307796		2203	4300	6503	FLRT3	SO:0001819	synonymous_variant	0			-	HGNC	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.357C>T	20.37:g.14307796G>A		Somatic	0	44	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	35	0	0	69	13.75	11	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.I119	ENST00000378053.3	37	c.357	CCDS13121.1	20																																																																																			-	NULL		0.348	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	protein_coding	OTTHUMT00000078075.1	G	NM_013281	-		14307796	-1	no_errors	ENST00000341420	ensembl	human	known	74_37	silent	SNP	1.000	A	A	14307796	G	A	14307796	2	1	19	1	0	0	0	0	0	0	0	1	5942	1280	45	2		2	FLRT3	20	14307796	Silent	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09	940	14307796	48717724	65	1347											
RNF160	26046	genome.wustl.edu	37	chr21	30357066	30357066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcaggttgcttgcttggagGaaaagccgcttcaaatgcat	11	8	2	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr21:30357066G>T	ENST00000361371.5	-	4	602	c.523C>A	c.(523-525)Cct>Act	p.P175T	LTN1_ENST00000389195.2_Missense_Mutation_p.P221T|LTN1_ENST00000389194.2_Missense_Mutation_p.P221T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	175					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTGCTTGGAGGAAAAGCCGCT	0.363																																																	0								ENSG00000198862						105	100	101					21																	30357066		2203	4300	6503	LTN1	SO:0001583	missense	0			-	HGNC	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.523C>A	21.37:g.30357066G>T	ENSP00000354977:p.Pro175Thr	Somatic	0	30	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	44	0	0	77	0.00	0	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.P221T	ENST00000361371.5	37	c.661		21	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189915	0.78789	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.64991	1.84;1.84;-0.13	5.14	5.14	0.70334	Armadillo-like helical (1);Armadillo-type fold (1);	0.067130	0.64402	D	0.000007	T	0.74550	0.3731	M	0.77616	2.38	0.58432	D	0.999999	D	0.62365	0.991	P	0.53490	0.727	T	0.75703	-0.3225	10	0.42905	T	0.14	.	18.8049	0.92032	0.0:0.0:1.0:0.0	.	175	O94822	LTN1_HUMAN	T	221;175;177;221	ENSP00000373846:P221T;ENSP00000354977:P175T;ENSP00000373847:P221T	ENSP00000354977:P175T	P	-	1	0	LTN1	29278937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.206000	0.77891	2.690000	0.91761	0.460000	0.39030	CCT	-	superfamily_ARM-type_fold		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	protein_coding	OTTHUMT00000472108.1	G	NM_015565	-		30357066	-1	no_errors	ENST00000389194	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30357066	G	T	30357066	3	4	19	1	0	0	0	0	1	0	0	0	13463	1174	41	3	4885	3	RNF160	21	30357066	Missense_Mutation	SNP	G	TCGA-DX-A1KU-01A-32D-A24N-09		30357066	17772829	66	1348											
MYO18B	84700	genome.wustl.edu	37	chr22	26176054	26176054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagccaccttcactgtcctCcgggccttcggctctgtgtc	10	17	2	0			TCGA-DX-A1KU-01A-32D-A24N-09	TCGA-DX-A1KU-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c556f81b-8a6c-4bbb-876f-2e2ce570c185	82655523-70c2-4b8d-83cd-bf3dfa800b4a	g.chr22:26176054C>T	ENST00000407587.2	+	9	2269	c.2100C>T	c.(2098-2100)ctC>ctT	p.L700L	MYO18B_ENST00000335473.7_Silent_p.L700L|MYO18B_ENST00000536101.1_Silent_p.L700L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	700	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						TCACTGTCCTCCGGGCCTTCG	0.627																																																	0								ENSG00000133454						19	23	21					22																	26176054		2078	4190	6268	MYO18B	SO:0001819	synonymous_variant	0			-	HGNC	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.2100C>T	22.37:g.26176054C>T		Somatic	0	77	0		0.527269657213099				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	64	40.19	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	34	0	0	49	37.97	30	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L700	ENST00000407587.2	37	c.2100		22																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.627	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	C	NM_032608	-		26176054	1	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	SNP	0.843	T	T	26176054	C	T	26176054	2	4	19	1	0	0	0	0	0	0	0	1	10068	842	30	2		2	MYO18B	22	26176054	Silent	SNP	C	TCGA-DX-A1KU-01A-32D-A24N-09		26176054	25128512	67	1349											
TCEB3	6924	genome.wustl.edu	37	chr1	24078271	24078271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccctccctaaagttgaGgagacagatatggaggatga	13	8	0	4			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr1:24078271G>A	ENST00000418390.2	+	4	1525	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	TCEB3_ENST00000609199.1_Silent_p.E392E	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	418					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTAAAGTTGAGGAGACAGATA	0.428											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000011007						111	127	122					1																	24078271		2203	4300	6503	TCEB3	SO:0001819	synonymous_variant	0			-	HGNC	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1254G>A	1.37:g.24078271G>A		Somatic	0	24	0	768	0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2R7Q8|Q8IXH1	Silent	SNP	39	0	0	31	29.55	13	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.E418	ENST00000418390.2	37	c.1254	CCDS239.2	1																																																																																			-	NULL		0.428	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	protein_coding	OTTHUMT00000008230.2	G	NM_003198	-		24078271	1	no_errors	ENST00000418390	ensembl	human	known	74_37	silent	SNP	0.942	A	A	24078271	G	A	24078271	2	1	20	1	0	0	0	0	0	0	0	1	15688	991	35	2		2	TCEB3	1	24078271	Silent	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09		24078271	225172350	1	1350											
TMEM57	55219	genome.wustl.edu	37	chr1	25773365	25773365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggcttttcatcagaagcGtctatgattccttcagatac	7	10	5	3			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr1:25773365G>T	ENST00000374343.4	+	2	372	c.193G>T	c.(193-195)Gtc>Ttc	p.V65F	TMEM57_ENST00000399766.3_Missense_Mutation_p.V65F|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	65					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGAAGCGTCTATGATTC	0.443																																																	0								ENSG00000204178						154	149	151					1																	25773365		2203	4300	6503	TMEM57	SO:0001583	missense	0			-	HGNC	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.193G>T	1.37:g.25773365G>T	ENSP00000363463:p.Val65Phe	Somatic	0	47	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	42	0	0	29	29.27	12	pfam_Macoilin,superfamily_Prefoldin	p.V65F	ENST00000374343.4	37	c.193	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.050442	0.93740	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	T	0.80393	-1.37	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.993;0.995	D	0.91219	0.5005	10	0.87932	D	0	-13.6643	19.3309	0.94288	0.0:0.0:1.0:0.0	.	65;65	Q8N5G2-3;Q8N5G2	.;MACOI_HUMAN	F	65	ENSP00000382668:V65F	ENSP00000363463:V65F	V	+	1	0	TMEM57	25645952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	GTC	-	pfam_Macoilin		0.443	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	protein_coding	OTTHUMT00000009659.2	G	NM_018202	-		25773365	1	no_errors	ENST00000374343	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25773365	G	T	25773365	3	4	20	1	0	0	0	0	1	0	0	0	16191	1145	40	3	199	3	TMEM57	1	25773365	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	1695094	25773365	223477256	2	1351											
DOCK7	85440	genome.wustl.edu	37	chr1	62961254	62961254	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcaaataaatgctacctGtacattagatcaatcaacat	4	8	3	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr1:62961254G>T	ENST00000340370.5	-	38	4946	c.4929C>A	c.(4927-4929)taC>taA	p.Y1643*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.Y1665*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1674					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AATGCTACCTGTACATTAGAT	0.328																																																	0								ENSG00000116641						84	85	84					1																	62961254		2203	4298	6501	DOCK7	SO:0001587	stop_gained	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4929C>A	1.37:g.62961254G>T	ENSP00000340742:p.Tyr1643*	Somatic	0	27	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	25	0	0	38	0.00	0	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.Y1665*	ENST00000340370.5	37	c.4995	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.410261|12.410261	0.99665|0.99665	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.50051|.	0.1593|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38090|.	-0.9677|.	3|.	.|0.02654	.|T	.|1	.|.	20.5373|20.5373	0.99239|0.99239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	837|1674;1665;1643;404	.|.	.|ENSP00000251157:Y1665X	Q|Y	-|-	1|3	0|2	DOCK7|DOCK7	62733842|62733842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.023000|8.023000	0.88764|0.88764	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CAG|TAC	-	NULL		0.328	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	G	NM_033407	-		62961254	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	62961254	G	T	62961254	4	4	20	1	0	0	0	0	0	1	0	0	4694	1372	48	3	1448	3	DOCK7	1	62961254	Nonsense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	37187889	62961254	186289367	3	1352											
AHCTF1	25909	genome.wustl.edu	37	chr1	247051817	247051817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatcgggattccacttcCctctgcaatcagggaaaaat	8	11	2	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr1:247051817C>T	ENST00000391829.2	-	18	2270	c.2147G>A	c.(2146-2148)gGg>gAg	p.G716E	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G725E|AHCTF1_ENST00000366508.1_Missense_Mutation_p.G751E			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	716	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTCCACTTCCCTCTGCAATC	0.363																																					Colon(145;197 1800 4745 15099 26333)												0								ENSG00000153207						60	57	58					1																	247051817		2203	4300	6503	AHCTF1	SO:0001583	missense	0			-	HGNC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2147G>A	1.37:g.247051817C>T	ENSP00000375705:p.Gly716Glu	Somatic	0	29	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	46	0	0	55	11.29	7	superfamily_Quinonprotein_ADH-like_supfam	p.G725E	ENST00000391829.2	37	c.2174		1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564126	0.65651	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34859	1.34;1.34;1.34	5.26	4.35	0.52113	.	0.173268	0.50627	N	0.000112	T	0.58793	0.2147	M	0.70595	2.14	0.49582	D	0.999808	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.63734	-0.6570	10	0.72032	D	0.01	-13.3544	14.1506	0.65381	0.0:0.9274:0.0:0.0726	.	751;716	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	E	751;725;716	ENSP00000355464:G751E;ENSP00000355465:G725E;ENSP00000375705:G716E	ENSP00000355465:G725E	G	-	2	0	AHCTF1	245118440	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.184000	0.58323	1.365000	0.46057	0.305000	0.20034	GGG	-	NULL		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	protein_coding		C	NM_015446	-		247051817	-1	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	SNP	1.000	T	T	247051817	C	T	247051817	3	4	20	1	0	0	0	0	1	0	0	0	408	623	22	2	4729	2	AHCTF1	1	247051817	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	184090563	247051817	2198804	4	1353											
LRP1B	53353	genome.wustl.edu	37	chr2	141625271	141625271	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggctttggacaatgtgttGgtcctccagtctgtccagta	11	9	1	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr2:141625271G>C	ENST00000389484.3	-	27	5438	c.4467C>G	c.(4465-4467)acC>acG	p.T1489T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1489					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)		ACAATGTGTTGGTCCTCCAGT	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						189	169	176					2																	141625271		2203	4300	6503	LRP1B	SO:0001819	synonymous_variant	0			-	HGNC	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.4467C>G	2.37:g.141625271G>C		Somatic	0	66	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	59	47.32	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	29	0	0	26	43.48	20	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T1489	ENST00000389484.3	37	c.4467	CCDS2182.1	2																																																																																			-	smart_LDLR_classB_rpt		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		141625271	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	0.996	C	C	141625271	G	C	141625271	2	2	20	1	0	0	0	0	0	0	0	1	8957	1335	47	4		4	LRP1B	2	141625271	Silent	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09		141625271	101574102	5	1354											
LY75	4065	genome.wustl.edu	37	chr2	160721358	160721358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttaacttactggtgtacGatcactccattgccaggatc	8	10	1	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr2:160721358G>A	ENST00000263636.4	-	14	2218	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	LY75_ENST00000554112.1_Missense_Mutation_p.R731C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R731C|LY75_ENST00000553424.1_Missense_Mutation_p.R731C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R731C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	731	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTGGTGTACGATCACTCCAT	0.343																																																	0								ENSG00000054219						147	130	136					2																	160721358		2203	4300	6503	LY75	SO:0001583	missense	0			-	HGNC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2191C>T	2.37:g.160721358G>A	ENSP00000263636:p.Arg731Cys	Somatic	0	49	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	63	10.00	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	42	0	0	49	10.91	6	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R731C	ENST00000263636.4	37	c.2191	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723055	0.48728	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.18	-0.865	0.10662	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.615210	0.04043	N	0.303362	T	0.13586	0.0329	M	0.68593	2.085	0.18873	N	0.999982	D;D;D	0.64830	0.971;0.994;0.987	P;P;B	0.49301	0.471;0.606;0.401	T	0.20207	-1.0282	10	0.62326	D	0.03	0.5959	0.7347	0.00963	0.178:0.2212:0.2335:0.3673	.	731;731;731	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	C	731	ENSP00000451511:R731C;ENSP00000451446:R731C;ENSP00000263636:R731C;ENSP00000423463:R731C;ENSP00000421035:R731C	ENSP00000423463:R731C	R	-	1	0	LY75;LY75-CD302	160429604	0.370000	0.25047	0.065000	0.19835	0.898000	0.52572	0.667000	0.25112	-0.051000	0.13334	0.555000	0.69702	CGT	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.343	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	G		-		160721358	-1	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	SNP	0.019	A	A	160721358	G	A	160721358	3	1	20	1	0	0	0	0	1	0	0	0	9101	1058	37	1	3065	1	LY75	2	160721358	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	19096087	160721358	82478015	6	1355											
TTN	7273	genome.wustl.edu	37	chr2	179641959	179641959	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggggttacccgtagctctGactttcatttcaagtcggga	11	9	3	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr2:179641959G>A	ENST00000591111.1	-	27	4955	c.4731C>T	c.(4729-4731)gtC>gtT	p.V1577V	RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V1577V|TTN_ENST00000360870.5_Silent_p.V1577V|TTN_ENST00000342175.6_Silent_p.V1531V|TTN_ENST00000359218.5_Silent_p.V1531V|TTN_ENST00000460472.2_Silent_p.V1531V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Silent_p.V1577V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12434	Ig-like 7.				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)			CCGTAGCTCTGACTTTCATTT	0.378																																																	0								ENSG00000155657						157	151	153					2																	179641959		2203	4300	6503	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.4731C>T	2.37:g.179641959G>A		Somatic	0	37	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	30.19	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	25	0	0	44	24.14	14	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V1577	ENST00000591111.1	37	c.4731		2																																																																																			-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179641959	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179641959	G	A	179641959	2	1	20	1	0	0	0	0	0	0	0	1	16742	1277	45	2		2	TTN	2	179641959	Silent	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	18920601	179641959	63557414	7	1356											
OR5H1	26341	genome.wustl.edu	37	chr3	97852060	97852060	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accttctgtaactccaacatAgtacatcacatttactgtga	4	11	2	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr3:97852060A>T	ENST00000354565.2	+	1	519	c.519A>T	c.(517-519)atA>atT	p.I173I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	173						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACTCCAACATAGTACATCACA	0.328																																																	0								ENSG00000231192						26	33	30					3																	97852060		2189	4276	6465	OR5H1	SO:0001819	synonymous_variant	0			-	HGNC	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.519A>T	3.37:g.97852060A>T		Somatic	0	54	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53		Silent	SNP	30	0	0	10	52.38	11	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I173	ENST00000354565.2	37	c.519	CCDS33797.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.328	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	protein_coding	OTTHUMT00000359100.2	A	NM_001005338	-		97852060	1	no_errors	ENST00000354565	ensembl	human	known	74_37	silent	SNP	0.001	T	T	97852060	A	T	97852060	2	4	20	1	0	0	0	0	0	0	0	1	11161	410	15	5		5	OR5H1	3	97852060	Silent	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09		97852060	100170370	8	1357											
CP	1356	genome.wustl.edu	37	chr3	148923962	148923962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtaaattaccttccagGtgctgttaagttttctttag	7	6	1	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr3:148923962G>T	ENST00000264613.6	-	6	1463	c.1201C>A	c.(1201-1203)Cct>Act	p.P401T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	401	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TACCTTCCAGGTGCTGTTAAG	0.373																																																	0								ENSG00000047457						96	99	98					3																	148923962		2203	4300	6503	CP	SO:0001583	missense	0			-	HGNC	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1201C>A	3.37:g.148923962G>T	ENSP00000264613:p.Pro401Thr	Somatic	0	31	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	32	0	0	37	0.00	0	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.P401T	ENST00000264613.6	37	c.1201	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546315	0.27652	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98889	-5.21;-5.21	5.81	5.81	0.92471	Cupredoxin (2);	0.893140	0.09912	N	0.739729	D	0.97420	0.9156	L	0.50333	1.59	0.25775	N	0.984797	B;B;B;B	0.18968	0.032;0.032;0.032;0.032	B;B;B;B	0.23018	0.043;0.043;0.043;0.029	D	0.92365	0.5900	10	0.36615	T	0.2	-11.3105	15.5764	0.76392	0.0:0.0:1.0:0.0	.	401;401;401;401	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	T	401;184	ENSP00000264613:P401T;ENSP00000420545:P184T	ENSP00000264613:P401T	P	-	1	0	CP	150406652	0.141000	0.22595	0.906000	0.35671	0.983000	0.72400	0.593000	0.23999	2.756000	0.94617	0.655000	0.94253	CCT	-	superfamily_Cupredoxin		0.373	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	protein_coding	OTTHUMT00000317498.1	G	NM_000096	-		148923962	-1	no_errors	ENST00000264613	ensembl	human	known	74_37	missense	SNP	0.777	T	T	148923962	G	T	148923962	3	4	20	1	0	0	0	0	1	0	0	0	3789	1261	44	3	2052	3	CP	3	148923962	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	51071902	148923962	49098468	9	1358											
WHSC1	7468	genome.wustl.edu	37	chr4	1977056	1977056	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaactacaacctcgattgtCtgggcaatgaaaaaacggtc	8	9	1	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr4:1977056C>T	ENST00000382895.3	+	22	3981	c.3550C>T	c.(3550-3552)Ctg>Ttg	p.L1184L	WHSC1_ENST00000508803.1_Silent_p.L1184L|WHSC1_ENST00000382892.2_Silent_p.L1184L|WHSC1_ENST00000382891.5_Silent_p.L1184L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.L532L|SCARNA22_ENST00000503991.1_RNA	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1184					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTCGATTGTCTGGGCAATGA	0.532			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0								ENSG00000109685						94	89	91					4																	1977056		2203	4300	6503	WHSC1	SO:0001819	synonymous_variant	0			-	HGNC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3550C>T	4.37:g.1977056C>T		Somatic	0	56	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	84	16.00	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	35	0	0	48	21.31	13	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.L1184	ENST00000382895.3	37	c.3550	CCDS33940.1	4																																																																																			-	smart_SET_dom,pfscan_SET_dom		0.532	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	protein_coding	OTTHUMT00000366269.2	C	NM_133330	-		1977056	1	no_errors	ENST00000382891	ensembl	human	known	74_37	silent	SNP	0.936	T	T	1977056	C	T	1977056	2	4	20	1	0	0	0	0	0	0	0	1	17369	912	32	2		2	WHSC1	4	1977056	Silent	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		1977056	189177220	10	1359											
AFP	174	genome.wustl.edu	37	chr4	74303891	74303891	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacacgtatttttgtttcagGgctaccatattttttgccca	6	10	1	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr4:74303891G>C	ENST00000395792.2	+	3	238	c.138G>C	c.(136-138)ctG>ctC	p.L46L	AFP_ENST00000226359.2_Splice_Site_p.L46L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	46	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGTTTCAGGGCTACCATAT	0.358									Alpha-Fetoprotein, Hereditary Persistence of																																								0								ENSG00000081051						143	140	141					4																	74303891		2203	4300	6503	AFP	SO:0001630	splice_region_variant	0	Familial Cancer Database	HPAFP	-	HGNC	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.138-1G>C	4.37:g.74303891G>C		Somatic	0	25	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	B2RBU3	Silent	SNP	41	0	0	32	25.58	11	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB	p.L46	ENST00000395792.2	37	c.138	CCDS3556.1	4																																																																																			-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP		0.358	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	protein_coding	OTTHUMT00000252284.3	G		-	Silent	74303891	1	no_errors	ENST00000395792	ensembl	human	known	74_37	silent	SNP	1.000	C	C	74303891	G	C	74303891	5	2	20	1	0	0	0	0	0	0	1	0	363	1246	43	4	148	4	AFP	4	74303891	Splice_Site	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	72326835	74303891	116850385	11	1360											
PAPD7	11044	genome.wustl.edu	37	chr5	6753031	6753031	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccctaggggttgctcctgttCcttgcagacaagctggtgta	12	11	0	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr5:6753031C>G	ENST00000230859.6	+	12	1444	c.1315C>G	c.(1315-1317)Cct>Gct	p.P439A		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	669	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCTCCTGTTCCTTGCAGACA	0.542																																					NSCLC(7;212 333 5667 23379 46547)												0								ENSG00000112941						121	111	114					5																	6753031		2203	4300	6503	PAPD7	SO:0001583	missense	0			-	HGNC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1315C>G	5.37:g.6753031C>G	ENSP00000230859:p.Pro439Ala	Somatic	0	54	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	98	20.33	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	36	0	0	76	18.28	17	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.P439A	ENST00000230859.6	37	c.1315	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816673	0.50633	.	.	ENSG00000112941	ENST00000230859	T	0.31769	1.48	5.35	4.48	0.54585	.	0.184757	0.47852	N	0.000203	T	0.23846	0.0577	L	0.27053	0.805	0.42572	D	0.993187	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.04307	-1.0961	10	0.66056	D	0.02	-9.3543	13.2058	0.59795	0.0:0.8403:0.1597:0.0	.	439;439	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	A	439	ENSP00000230859:P439A	ENSP00000230859:P439A	P	+	1	0	PAPD7	6806031	0.990000	0.36364	0.804000	0.32291	0.921000	0.55340	2.971000	0.49248	1.245000	0.43885	0.655000	0.94253	CCT	-	NULL		0.542	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	protein_coding	OTTHUMT00000206904.1	C	NM_006999	-		6753031	1	no_errors	ENST00000230859	ensembl	human	known	74_37	missense	SNP	0.978	G	G	6753031	C	G	6753031	3	3	20	1	0	0	0	0	1	0	0	0	11428	855	30	4	1357	4	PAPD7	5	6753031	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		6753031	174162229	12	1361											
DOCK2	1794	genome.wustl.edu	37	chr5	169494557	169494557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatagaaaccatgtccaCggccaatgagaagatcctga	9	11	0	4	rs201320169		TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr5:169494557C>T	ENST00000256935.8	+	45	4591	c.4511C>T	c.(4510-4512)aCg>aTg	p.T1504M	DOCK2_ENST00000520908.1_Missense_Mutation_p.T996M|DOCK2_ENST00000540750.1_Missense_Mutation_p.T565M|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1504	DHR-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)			ACCATGTCCACGGCCAATGAG	0.458													C|||	1	0.000199681	0	0	5008	,	,		20046	0.001		0	False		,,,				2504	0																0								ENSG00000134516						164	148	153					5																	169494557		2203	4300	6503	DOCK2	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.4511C>T	5.37:g.169494557C>T	ENSP00000256935:p.Thr1504Met	Somatic	0	51	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	60	28.57	Q2M3I0|Q96AK7	Missense_Mutation	SNP	40	0	0	32	31.91	15	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.T1504M	ENST00000256935.8	37	c.4511	CCDS4371.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.59	1.394078	0.25205	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17528	2.27;2.27;2.27	4.71	3.83	0.44106	.	0.566561	0.19162	N	0.121141	T	0.09512	0.0234	N	0.12182	0.205	0.09310	N	1	B;B;B	0.24920	0.047;0.114;0.055	B;B;B	0.15870	0.007;0.014;0.008	T	0.22661	-1.0210	10	0.41790	T	0.15	.	10.349	0.43922	0.0:0.7849:0.0:0.2151	.	996;60;1504	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1504;996;565	ENSP00000256935:T1504M;ENSP00000429283:T996M;ENSP00000438827:T565M	ENSP00000256935:T1504M	T	+	2	0	DOCK2	169427135	0.000000	0.05858	0.599000	0.28851	0.951000	0.60555	0.318000	0.19504	1.101000	0.41535	0.467000	0.42956	ACG	-	pfam_DOCK_C		0.458	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	rs201320169		169494557	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	0.003	T	T	169494557	C	T	169494557	3	4	20	1	0	0	0	0	1	0	0	0	4689	536	19	1	4689	1	DOCK2	5	169494557	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	162741526	169494557	11420703	13	1362											
GPRIN1	114787	genome.wustl.edu	37	chr5	176026016	176026016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctgcagatgtaggagCgaccttttctgaggacacag	11	9	2	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr5:176026016C>T	ENST00000303991.4	-	2	997	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	274					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGTAGGAGCGACCTTTTCT	0.512																																																	0								ENSG00000169258						185	185	185					5																	176026016		2203	4300	6503	GPRIN1	SO:0001583	missense	0			-	HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.820G>A	5.37:g.176026016C>T	ENSP00000305839:p.Ala274Thr	Somatic	0	63	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	24	61.29	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	22	0	0	14	58.82	20	NULL	p.A274T	ENST00000303991.4	37	c.820	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101823	0.08731	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.08546	3.08	4.09	1.22	0.21188	.	0.523893	0.14357	N	0.324728	T	0.06005	0.0156	L	0.36672	1.1	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.44682	-0.9312	10	0.14656	T	0.56	-0.1073	6.8727	0.24129	0.0:0.5775:0.0:0.4225	.	274	Q7Z2K8	GRIN1_HUMAN	T	274	ENSP00000305839:A274T	ENSP00000305839:A274T	A	-	1	0	GPRIN1	175958622	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.722000	0.01868	0.208000	0.20626	-0.448000	0.05591	GCT	-	NULL		0.512	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	C	NM_052899	-		176026016	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	missense	SNP	0.000	T	T	176026016	C	T	176026016	3	4	20	1	0	0	0	0	1	0	0	0	6731	768	27	1	2210	1	GPRIN1	5	176026016	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	6531459	176026016	4889244	14	1363											
TUBB2B	347733	genome.wustl.edu	37	chr6	3225580	3225580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcttgcgcaggtctGcgttcagctggcccgggaag	15	14	2	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr6:3225580G>A	ENST00000259818.7	-	4	934	c.743C>T	c.(742-744)gCa>gTa	p.A248V	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	248					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|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)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCGCAGGTCTGCGTTCAGCTG	0.677																																																	0								ENSG00000137285						4	3	3					6																	3225580		1333	2690	4023	TUBB2B	SO:0001583	missense	0			-	HGNC	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.743C>T	6.37:g.3225580G>A	ENSP00000259818:p.Ala248Val	Somatic	0	17	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A8K068	Missense_Mutation	SNP	5	28.57	2	15	6.25	1	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.A248V	ENST00000259818.7	37	c.743	CCDS4485.1	6	.	.	.	.	.	.	.	.	.	.	G	7.094	0.572680	0.13623	.	.	ENSG00000137285	ENST00000259818	D	0.83163	-1.69	5.06	4.18	0.49190	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000004	T	0.65471	0.2694	L	0.32530	0.975	0.80722	D	1	B;B;B	0.30236	0.274;0.274;0.006	B;B;B	0.27715	0.055;0.082;0.022	T	0.69647	-0.5089	10	0.87932	D	0	.	14.8705	0.70453	0.0:0.0:0.8552:0.1448	.	248;248;248	Q8IZ29;Q8IWP6;Q9BVA1	.;.;TBB2B_HUMAN	V	248	ENSP00000259818:A248V	ENSP00000259818:A248V	A	-	2	0	TUBB2B	3170579	1.000000	0.71417	0.873000	0.34254	0.159000	0.22180	9.506000	0.97992	1.121000	0.41925	-0.248000	0.11899	GCA	-	superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin		0.677	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	protein_coding	OTTHUMT00000039680.2	G	NM_178012	-		3225580	-1	no_errors	ENST00000259818	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3225580	G	A	3225580	3	1	20	1	0	0	0	0	1	0	0	0	16762	1319	46	2	598	2	TUBB2B	6	3225580	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09		3225580	167889487	15	1364											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26032209	26032209	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggtagccggcgcgctcttgCgagcagccttggtagccagc	15	14	1	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr6:26032209C>G	ENST00000244661.2	-	1	79	c.80G>C	c.(79-81)cGc>cCc	p.R27P		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	27					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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CGCGCTCTTGCGAGCAGCCTT	0.612																																																	0								ENSG00000124693						67	82	77					6																	26032209		2161	4211	6372	HIST1H3B	SO:0001583	missense	0			-	HGNC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.80G>C	6.37:g.26032209C>G	ENSP00000244661:p.Arg27Pro	Somatic	0	14	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	20	0	0	45	2.17	1	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R27P	ENST00000244661.2	37	c.80	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	11.37	1.619938	0.28801	.	.	ENSG00000124693	ENST00000244661	T	0.41400	1.0	5.19	5.19	0.71726	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.45528	D	0.998481	.	.	.	.	.	.	T	0.61242	-0.7102	6	0.87932	D	0	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	P	27	ENSP00000244661:R27P	ENSP00000244661:R27P	R	-	2	0	HIST1H3B	26140188	1.000000	0.71417	0.994000	0.49952	0.013000	0.08279	7.633000	0.83260	2.577000	0.86979	0.561000	0.74099	CGC	-	superfamily_Histone-fold,prints_Histone_H3		0.612	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	protein_coding	OTTHUMT00000040077.1	C	NM_003537	-		26032209	-1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	SNP	1.000	G	G	26032209	C	G	26032209	3	3	20	1	0	0	0	0	1	0	0	0	7158	768	27	4	334	4	HIST1H3B	6	26032209	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	22806629	26032209	145082858	16	1365											
SYNE1	23345	genome.wustl.edu	37	chr6	152485354	152485354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacaggaatcgtagactaTtggcttggccagctctgact	11	9	1	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr6:152485354T>C	ENST00000367255.5	-	131	24335	c.23734A>G	c.(23734-23736)Ata>Gta	p.I7912V	SYNE1_ENST00000448038.1_Missense_Mutation_p.I7841V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7524V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7912V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7841V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.I67V|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2436V|SYNE1_ENST00000539504.1_Missense_Mutation_p.I67V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7912					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)		TCGTAGACTATTGGCTTGGCC	0.468										HNSCC(10;0.0054)																																							0								ENSG00000131018						123	112	116					6																	152485354		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.23734A>G	6.37:g.152485354T>C	ENSP00000356224:p.Ile7912Val	Somatic	0	51	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	69	24.18	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	34	0	0	30	38.78	19	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I7912V	ENST00000367255.5	37	c.23734	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286277	0.23478	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;1.47;1.47;0.81;0.81;0.81;0.81;1.47;1.47;1.47	5.26	5.26	0.73747	.	0.000000	0.49916	D	0.000127	T	0.27169	0.0666	N	0.02539	-0.55	0.53688	D	0.99997	P;P;P;P;B	0.50617	0.937;0.937;0.923;0.937;0.001	P;P;P;P;B	0.59948	0.866;0.866;0.79;0.866;0.006	T	0.45833	-0.9234	10	0.29301	T	0.29	.	15.173	0.72891	0.0:0.0:0.0:1.0	.	7912;7912;7841;7841;114	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	V	7912;67;558;7841;7912;7841;7524;2436;74;69;834;67	ENSP00000356224:I7912V;ENSP00000441052:I67V;ENSP00000356226:I558V;ENSP00000396024:I7841V;ENSP00000265368:I7912V;ENSP00000390975:I7841V;ENSP00000341887:I7524V;ENSP00000349276:I2436V;ENSP00000356220:I834V;ENSP00000346701:I67V	ENSP00000265368:I7912V	I	-	1	0	SYNE1	152527047	1.000000	0.71417	0.090000	0.20809	0.956000	0.61745	6.126000	0.71635	1.985000	0.57927	0.477000	0.44152	ATA	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	T	NM_182961	-		152485354	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.997	C	C	152485354	T	C	152485354	3	2	20	1	0	0	0	0	1	0	0	0	15452	1493	52	5	2796	5	SYNE1	6	152485354	Missense_Mutation	SNP	T	TCGA-DX-A1KW-01A-22D-A24N-09	126453145	152485354	18629713	17	1366											
SYNE1	23345	genome.wustl.edu	37	chr6	152651745	152651745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatcctcaagaattggGcttcaagttcactcagagac	8	11	5	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr6:152651745G>T	ENST00000367255.5	-	78	14676	c.14075C>A	c.(14074-14076)gCc>gAc	p.A4692D	SYNE1_ENST00000448038.1_Missense_Mutation_p.A4621D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4439D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4692D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4621D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4692					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)		CAAGAATTGGGCTTCAAGTTC	0.498										HNSCC(10;0.0054)																																							0								ENSG00000131018						47	50	49					6																	152651745		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.14075C>A	6.37:g.152651745G>T	ENSP00000356224:p.Ala4692Asp	Somatic	0	8	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	32	0	0	40	0.00	0	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A4692D	ENST00000367255.5	37	c.14075	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401878	0.25291	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.93	4.81	0.61882	.	0.179711	0.38605	N	0.001629	T	0.06005	0.0156	N	0.00583	-1.355	0.80722	D	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	0.23368	-1.0190	10	0.10636	T	0.68	.	13.0125	0.58739	0.0:0.0:0.1516:0.8484	.	4692;4692;4692;4621	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4692;4621;4692;4621;4439	ENSP00000356224:A4692D;ENSP00000396024:A4621D;ENSP00000265368:A4692D;ENSP00000390975:A4621D;ENSP00000341887:A4439D	ENSP00000265368:A4692D	A	-	2	0	SYNE1	152693438	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	6.288000	0.72679	1.111000	0.41721	0.591000	0.81541	GCC	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152651745	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152651745	G	T	152651745	3	4	20	1	0	0	0	0	1	0	0	0	15452	1203	42	3	12667	3	SYNE1	6	152651745	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	166391	152651745	18463322	18	1367											
RBAK	57786	genome.wustl.edu	37	chr7	5103562	5103562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgatggaagctatgctAggacaaaacctgatgagtgt	13	5	0	3			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr7:5103562A>G	ENST00000353796.3	+	6	799	c.475A>G	c.(475-477)Agg>Ggg	p.R159G	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.R159G	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	159					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAGCTATGCTAGGACAAAACC	0.343																																																	0								ENSG00000146587						82	81	82					7																	5103562		2203	4300	6503	RBAK	SO:0001583	missense	0			-	HGNC	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.475A>G	7.37:g.5103562A>G	ENSP00000275423:p.Arg159Gly	Somatic	0	41	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	57	14.93	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	36	0	0	31	29.55	13	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R159G	ENST00000353796.3	37	c.475	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.442169	0.00012	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.07688	3.17;3.17	3.38	0.648	0.17801	.	1.121760	0.06763	N	0.782230	T	0.02455	0.0075	N	0.01529	-0.815	0.20703	N	0.99986	B	0.02656	0.0	B	0.01281	0.0	T	0.45527	-0.9255	8	.	.	.	.	0.6574	0.00837	0.4526:0.2165:0.1212:0.2097	.	159	Q9NYW8	RBAK_HUMAN	G	159	ENSP00000275423:R159G;ENSP00000380120:R159G	.	R	+	1	2	RBAK	5070088	0.000000	0.05858	0.010000	0.14722	0.018000	0.09664	0.129000	0.15830	0.120000	0.18254	0.454000	0.30748	AGG	-	NULL		0.343	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	protein_coding	OTTHUMT00000241640.2	A	NM_021163	-		5103562	1	no_errors	ENST00000353796	ensembl	human	known	74_37	missense	SNP	0.016	G	G	5103562	A	G	5103562	3	3	20	1	0	0	0	0	1	0	0	0	13108	411	15	5	489	5	RBAK	7	5103562	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09		5103562	154035101	19	1368											
TNS3	64759	genome.wustl.edu	37	chr7	47385934	47385934	+	Frame_Shift_Del	DEL	G	G	-													cttcctgagtctcccgcccaGgggctgttcagcagaggagc							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr7:47385934delG	ENST00000398879.1	-	18	2668	c.2302delC	c.(2302-2304)ctgfs	p.L768fs	TNS3_ENST00000311160.9_Frame_Shift_Del_p.L768fs|TNS3_ENST00000355730.3_Frame_Shift_Del_p.L528fs			Q68CZ2	TENS3_HUMAN	tensin 3	768					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTCCCGCCCAGGGGCTGTTCA	0.607																																																	0								ENSG00000136205						40	41	41					7																	47385934		1913	4117	6030	TNS3	SO:0001589	frameshift_variant	0				HGNC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2302delC	7.37:g.47385934delG	ENSP00000381854:p.Leu768fs	Somatic	0	21	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Frame_Shift_Del	DEL	27	0	0	39	0.00	0	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L768fs	ENST00000398879.1	37	c.2302	CCDS5506.2	7																																																																																			-	NULL		0.607	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	protein_coding	OTTHUMT00000157253.1	G	NM_022748			47385934	-1	no_errors	ENST00000311160	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	47385934	G	-	47385934	7	5	20	1	0	1	0	1	0	0	0	0	16351	991	35	0	2091	0	TNS3	7	47385934	Frame_Shift_Del	DEL	G	TCGA-DX-A1KW-01A-22D-A24N-09	42282372	47385934	111752729	20	1369											
ELN	2006	genome.wustl.edu	37	chr7	73483018	73483018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggggaaagcttgtggccgGaagagaaaatgagcttccta	14	7	0	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr7:73483018G>A	ENST00000252034.7	+	33	2562	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	ELN_ENST00000357036.5_Silent_p.R708R|ELN_ENST00000380584.4_Silent_p.R655R|ELN_ENST00000380562.4_Silent_p.R727R|ELN_ENST00000380553.4_Silent_p.R567R|ELN_ENST00000320492.7_Silent_p.R640R|ELN_ENST00000320399.6_Silent_p.R754R|ELN_ENST00000380575.4_Silent_p.R674R|ELN_ENST00000380576.5_Silent_p.R702R|ELN_ENST00000429192.1_Silent_p.R689R|ELN_ENST00000458204.1_Silent_p.R711R|ELN_ENST00000358929.4_Silent_p.R789R|ELN_ENST00000445912.1_Silent_p.R703R|ELN_ENST00000414324.1_Silent_p.R697R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				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)			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)				CTTGTGGCCGGAAGAGAAAAT	0.577			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0								ENSG00000049540						135	119	125					7																	73483018		2203	4300	6503	ELN	SO:0001819	synonymous_variant	0			-	HGNC		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.2163G>A	7.37:g.73483018G>A		Somatic	0	42	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	29	0	0	53	0.00	0	prints_Tropoelastin	p.R789	ENST00000252034.7	37	c.2367	CCDS5562.2	7																																																																																			-	prints_Tropoelastin		0.577	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	-		73483018	1	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73483018	G	A	73483018	2	1	20	1	0	0	0	0	0	0	0	1	5073	1161	41	2		2	ELN	7	73483018	Silent	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	26097084	73483018	85655645	21	1370											
OCM2	4951	genome.wustl.edu	37	chr7	97616381	97616381	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccaattttcccatcTccatcattatccgccgcagc	4	17	3	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr7:97616381T>G	ENST00000257627.4	-	3	373	c.282A>C	c.(280-282)ggA>ggC	p.G94G	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	94	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TTTTCCCATCTCCATCATTAT	0.488																																																	0								ENSG00000135175						86	75	79					7																	97616381		2202	4280	6482	OCM2	SO:0001819	synonymous_variant	0			-	HGNC	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.282A>C	7.37:g.97616381T>G		Somatic	0	73	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	53	36.90	P32930|Q6ISI5|Q75MW0	Silent	SNP	29	0	0	34	19.05	8	smart_EF_hand_dom,pfscan_EF_hand_dom	p.G94	ENST00000257627.4	37	c.282	CCDS5653.1	7																																																																																			-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.488	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM2	protein_coding	OTTHUMT00000334188.1	T	NM_006188	-		97616381	-1	no_errors	ENST00000257627	ensembl	human	known	74_37	silent	SNP	0.997	G	G	97616381	T	G	97616381	2	3	20	1	0	0	0	0	0	0	0	1	10824	1538	54	5		5	OCM2	7	97616381	Silent	SNP	T	TCGA-DX-A1KW-01A-22D-A24N-09	24133363	97616381	61522282	22	1371											
DPP6	1804	genome.wustl.edu	37	chr7	154598776	154598776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaactgcacctacttcagCgcttccttcagccatagcat	7	14	2	1	rs369843983		TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr7:154598776C>T	ENST00000377770.3	+	16	1761	c.1620C>T	c.(1618-1620)agC>agT	p.S540S	DPP6_ENST00000404039.1_Silent_p.S476S|DPP6_ENST00000332007.3_Silent_p.S478S|DPP6_ENST00000427557.1_Silent_p.S433S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	540					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTACTTCAGCGCTTCCTTCA	0.572													C|||	1	0.000199681	0	0	5008	,	,		16753	0		0.001	False		,,,				2504	0				NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226	C	,,	1,4233		0,1,2116	141	144	143		1074,993,993	-7.9	0.1	7		143	0,8460		0,0,4230	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	0,1,6346	TT,TC,CC		0.0,0.0236,0.0079	,,	358/684,331/657,331/657	154598776	1,12693	2117	4230	6347	DPP6	SO:0001819	synonymous_variant	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1620C>T	7.37:g.154598776C>T		Somatic	0	17	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69		Silent	SNP	31	0	0	31	31.11	14	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S540	ENST00000377770.3	37	c.1620		7																																																																																			-	pfam_Peptidase_S9B		0.572	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	C	NM_130797	-		154598776	1	no_errors	ENST00000377770	ensembl	human	known	74_37	silent	SNP	0.841	T	T	154598776	C	T	154598776	2	4	20	1	0	0	0	0	0	0	0	1	4732	767	27	1		1	DPP6	7	154598776	Silent	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	56982395	154598776	4539887	23	1372											
NUP188	23511	genome.wustl.edu	37	chr9	131730948	131730948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggtagtaggcagaccaAtaggcacctggtggatgaga	14	6	0	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr9:131730948A>G	ENST00000372577.2	+	9	770	c.749A>G	c.(748-750)aAt>aGt	p.N250S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	250					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)|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 pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGCAGACCAATAGGCACCTG	0.388																																																	0								ENSG00000095319						197	179	185					9																	131730948		2203	4300	6503	NUP188	SO:0001583	missense	0			-	HGNC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.749A>G	9.37:g.131730948A>G	ENSP00000361658:p.Asn250Ser	Somatic	0	29	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	27	41.30	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	36	0	0	38	43.28	29	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.N250S	ENST00000372577.2	37	c.749	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750678	0.69533	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32515	1.45	5.52	4.34	0.51931	.	0.038682	0.85682	N	0.000000	T	0.39733	0.1089	L	0.32530	0.975	0.47476	D	0.999435	D	0.69078	0.997	D	0.73708	0.981	T	0.07635	-1.0762	10	0.22109	T	0.4	-6.7179	11.2382	0.48953	0.927:0.0:0.073:0.0	.	250	Q5SRE5	NU188_HUMAN	S	139;250	ENSP00000361658:N250S	ENSP00000349125:N139S	N	+	2	0	NUP188	130770769	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	6.883000	0.75595	0.984000	0.38629	0.455000	0.32223	AAT	-	pfam_Nucleoporin_Nup188		0.388	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	protein_coding	OTTHUMT00000054529.2	A		-		131730948	1	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	SNP	1.000	G	G	131730948	A	G	131730948	3	3	20	1	0	0	0	0	1	0	0	0	10760	101	4	5	783	5	NUP188	9	131730948	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09		131730948	9482483	24	1373											
SFMBT2	57713	genome.wustl.edu	37	chr10	7326112	7326112	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcctttccctcgcagagGctgtttaaacagaagcaaaa	10	10	0	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr10:7326112G>T	ENST00000361972.4	-	6	616	c.526C>A	c.(526-528)Cct>Act	p.P176T	SFMBT2_ENST00000397167.1_Splice_Site_p.P176T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	176					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTCGCAGAGGCTGTTTAAAC	0.378																																																	0								ENSG00000198879						60	60	60					10																	7326112		2202	4297	6499	SFMBT2	SO:0001630	splice_region_variant	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.526-1C>A	10.37:g.7326112G>T		Somatic	0	41	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7MD09|Q9HCF5	Missense_Mutation	SNP	38	0	0	62	0.00	0	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.P176T	ENST00000361972.4	37	c.526	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	g	9.223	1.033846	0.19590	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.14266	2.52;2.52	4.45	4.45	0.53987	.	0.051236	0.85682	D	0.000000	T	0.32436	0.0829	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.05818	-1.0862	10	0.18276	T	0.48	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	176	Q5VUG0	SMBT2_HUMAN	T	176	ENSP00000355109:P176T;ENSP00000380353:P176T	ENSP00000355109:P176T	P	-	1	0	SFMBT2	7366118	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.239000	0.72356	2.195000	0.70347	0.431000	0.28591	CCT	-	smart_Mbt,pfscan_Mbt		0.378	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	G	NM_001029880	-	Missense_Mutation	7326112	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7326112	G	T	7326112	5	4	20	1	0	0	0	0	0	0	1	0	14166	1217	42	3	2222	3	SFMBT2	10	7326112	Splice_Site	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09		7326112	128208635	25	1374											
PRPF18	8559	genome.wustl.edu	37	chr10	13642315	13642315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagaacttgaactggcagaGgaaaaattacctatgacgct	9	7	0	4			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr10:13642315G>T	ENST00000378572.3	+	3	376	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	72					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AACTGGCAGAGGAAAAATTAC	0.363																																																	0								ENSG00000165630						92	90	91					10																	13642315		2203	4300	6503	PRPF18	SO:0001583	missense	0			-	HGNC	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.216G>T	10.37:g.13642315G>T	ENSP00000367835:p.Glu72Asp	Somatic	0	40	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q5T9P9|Q9BUI9	Missense_Mutation	SNP	28	0	0	36	0.00	0	pfam_Prp18,pfam_PRP4-like,superfamily_Prp18,smart_SFM	p.E72D	ENST00000378572.3	37	c.216	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711123	0.30322	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	6.07	-1.13	0.09775	.	0.089300	0.85682	D	0.000000	T	0.38108	0.1028	L	0.29908	0.895	0.47547	D	0.999451	B	0.02656	0.0	B	0.04013	0.001	T	0.19257	-1.0311	9	0.12103	T	0.63	-31.6412	12.1494	0.54042	0.4621:0.0:0.5379:0.0	.	72	Q99633	PRP18_HUMAN	D	72;66;57;66	.	ENSP00000367824:E57D	E	+	3	2	PRPF18	13682321	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	0.712000	0.25779	-0.026000	0.13895	-0.793000	0.03317	GAG	-	NULL		0.363	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	protein_coding	OTTHUMT00000046879.1	G		-		13642315	1	no_errors	ENST00000378572	ensembl	human	known	74_37	missense	SNP	0.993	T	T	13642315	G	T	13642315	3	4	20	1	0	0	0	0	1	0	0	0	12568	991	35	3	226	3	PRPF18	10	13642315	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	6316203	13642315	121892432	26	1375											
ANK3	288	genome.wustl.edu	37	chr10	62021640	62021640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtgaaatccacagcagCcgctcggtttaacagcaacg	11	12	0	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr10:62021640C>A	ENST00000280772.2	-	7	966	c.775G>T	c.(775-777)Gct>Tct	p.A259S	ANK3_ENST00000373827.2_Missense_Mutation_p.A253S|ANK3_ENST00000503366.1_Missense_Mutation_p.A242S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	259					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)			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						TCCACAGCAGCCGCTCGGTTT	0.433																																																	0								ENSG00000151150						79	75	76					10																	62021640		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.775G>T	10.37:g.62021640C>A	ENSP00000280772:p.Ala259Ser	Somatic	0	35	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	37	0	0	33	28.26	13	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A259S	ENST00000280772.2	37	c.775	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909756	0.92107	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.27256	1.68;1.68;1.68;1.8	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000796	T	0.52500	0.1738	M	0.67625	2.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.998	T	0.50533	-0.8817	10	0.72032	D	0.01	.	19.6101	0.95602	0.0:1.0:0.0:0.0	.	242;253;259	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	S	259;253;242;221;233	ENSP00000280772:A259S;ENSP00000362933:A253S;ENSP00000425236:A242S;ENSP00000426011:A233S	ENSP00000280772:A259S	A	-	1	0	ANK3	61691646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.868000	0.98415	0.557000	0.71058	GCT	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	C	NM_020987	-		62021640	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62021640	C	A	62021640	3	1	20	1	0	0	0	0	1	0	0	0	622	739	26	3	12839	3	ANK3	10	62021640	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	48379325	62021640	73513107	27	1376											
OR8K3	219473	genome.wustl.edu	37	chr11	56085826	56085826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaatgaattcattcttaCgggaatcacagatatcgctg	10	7	3	3	rs149952066	byFrequency	TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr11:56085826C>T	ENST00000312711.1	+	1	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423																																																	0								ENSG00000181689	C	MET/THR	0,4402		0,0,2201	150	136	140		44	-0.3	0.2	11	dbSNP_134	140	2,8588	2.2+/-6.3	0,2,4293	no	missense	OR8K3	NM_001005202.1	81	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	15/313	56085826	2,12990	2201	4295	6496	OR8K3	SO:0001583	missense	0			-	HGNC	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.44C>T	11.37:g.56085826C>T	ENSP00000323555:p.Thr15Met	Somatic	0	34	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	14	56.25	Q6IFC4	Missense_Mutation	SNP	37	0	0	7	80.00	28	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T15M	ENST00000312711.1	37	c.44	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	C	0	-2.631331	0.00115	0.0	2.33E-4	ENSG00000181689	ENST00000312711	T	0.00421	7.46	4.84	-0.285	0.12866	.	1.071090	0.07145	N	0.848012	T	0.00178	0.0005	N	0.03115	-0.41	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.10245	-1.0638	10	0.11485	T	0.65	.	8.0648	0.30654	0.0:0.2598:0.0:0.7402	.	15	Q8NH51	OR8K3_HUMAN	M	15	ENSP00000323555:T15M	ENSP00000323555:T15M	T	+	2	0	OR8K3	55842402	0.039000	0.19947	0.154000	0.22540	0.012000	0.07955	0.379000	0.20585	0.062000	0.16340	-0.501000	0.04562	ACG	-	NULL		0.423	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	protein_coding	OTTHUMT00000391602.1	C	NM_001005202	rs149952066		56085826	1	no_errors	ENST00000312711	ensembl	human	known	74_37	missense	SNP	0.330	T	T	56085826	C	T	56085826	3	4	20	1	0	0	0	0	1	0	0	0	11246	536	19	1	46	1	OR8K3	11	56085826	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		56085826	78920690	28	1377											
PDGFD	80310	genome.wustl.edu	37	chr11	103866875	103866875	+	Missense_Mutation	SNP	C	C	T													tgattttaatttggttcgttCttgattttatccttggagga							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr11:103866875C>T	ENST00000393158.2	-	3	607	c.428G>A	c.(427-429)aGa>aAa	p.R143K	PDGFD_ENST00000302251.5_Missense_Mutation_p.R137K			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	143	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTGGTTCGTTCTTGATTTTAT	0.373																																																	0								ENSG00000170962						222	203	210					11																	103866875		2202	4299	6501	PDGFD	SO:0001583	missense	0			-	HGNC	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.428G>A	11.37:g.103866875C>T	ENSP00000376865:p.Arg143Lys	Somatic	0	53	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K9T6|Q9BWV5	Missense_Mutation	SNP	24	0	0	39	2.50	1	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.R143K	ENST00000393158.2	37	c.428	CCDS41703.1	11	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590379	0.28357	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.16597	2.33;2.33;2.33	5.82	4.9	0.64082	CUB (5);	0.231983	0.45126	D	0.000400	T	0.05364	0.0142	N	0.02379	-0.575	0.34568	D	0.713109	B;B	0.12630	0.006;0.005	B;B	0.12156	0.007;0.004	T	0.26155	-1.0111	10	0.02654	T	1	-15.2785	8.8378	0.35123	0.0:0.79:0.0:0.21	.	143;137	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	K	143;137;166	ENSP00000376865:R143K;ENSP00000302193:R137K;ENSP00000432909:R166K	ENSP00000302193:R137K	R	-	2	0	PDGFD	103372085	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.402000	0.44521	2.751000	0.94390	0.655000	0.94253	AGA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.373	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDGFD	protein_coding	OTTHUMT00000387231.2	C	NM_025208	-		103866875	-1	no_errors	ENST00000393158	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103866875	C	T	103866875	3	4	20	1	0	0	0	0	1	0	0	0	11662	913	32	2	704	2	PDGFD	11	103866875	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	47781049	103866875	31139641	29	1378	18	2									
PDGFD	80310	genome.wustl.edu	37	chr11	103866883	103866883	+	Missense_Mutation	SNP	T	T	C													atttggttcgttcttgatttTatccttggaggaacttcctt							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr11:103866883T>C	ENST00000393158.2	-	3	599	c.420A>G	c.(418-420)atA>atG	p.I140M	PDGFD_ENST00000302251.5_Missense_Mutation_p.I134M			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	140	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCTTGATTTTATCCTTGGAG	0.368																																																	0								ENSG00000170962						209	191	197					11																	103866883		2202	4299	6501	PDGFD	SO:0001583	missense	0			-	HGNC	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.420A>G	11.37:g.103866883T>C	ENSP00000376865:p.Ile140Met	Somatic	0	54	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K9T6|Q9BWV5	Missense_Mutation	SNP	22	0	0	41	0.00	0	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.I140M	ENST00000393158.2	37	c.420	CCDS41703.1	11	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476513	0.44044	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.23147	1.92;1.92;1.92	5.82	2.04	0.26737	CUB (5);	0.121353	0.56097	D	0.000028	T	0.27524	0.0676	M	0.72118	2.19	0.40894	D	0.98409	P;P	0.38677	0.642;0.589	B;B	0.42653	0.394;0.273	T	0.03969	-1.0988	10	0.52906	T	0.07	-14.2162	3.6401	0.08163	0.1256:0.0661:0.2631:0.5451	.	140;134	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	M	140;134;163	ENSP00000376865:I140M;ENSP00000302193:I134M;ENSP00000432909:I163M	ENSP00000302193:I134M	I	-	3	3	PDGFD	103372093	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	0.750000	0.26334	0.082000	0.17018	-1.410000	0.01125	ATA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.368	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDGFD	protein_coding	OTTHUMT00000387231.2	T	NM_025208	-		103866883	-1	no_errors	ENST00000393158	ensembl	human	known	74_37	missense	SNP	1.000	C	C	103866883	T	C	103866883	3	2	20	1	0	0	0	0	1	0	0	0	11662	1744	61	5	712	5	PDGFD	11	103866883	Missense_Mutation	SNP	T	TCGA-DX-A1KW-01A-22D-A24N-09	8	103866883	31139633	30	1379	18	2									
ZC3H12C	85463	genome.wustl.edu	37	chr11	110035683	110035683	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaataagttccgtagcttctGactgcagcagtgaagggagc	13	8	1	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr11:110035683G>A	ENST00000278590.3	+	6	1924	c.1873G>A	c.(1873-1875)Gac>Aac	p.D625N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D626N|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D594N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	625							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CGTAGCTTCTGACTGCAGCAG	0.512																																																	0								ENSG00000149289						47	49	48					11																	110035683		2036	4190	6226	ZC3H12C	SO:0001583	missense	0			-	HGNC		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1873G>A	11.37:g.110035683G>A	ENSP00000278590:p.Asp625Asn	Somatic	0	31	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	B4DI65|B4DR47	Missense_Mutation	SNP	28	0	0	24	25.00	8	pfam_RNase_Zc3h12	p.D625N	ENST00000278590.3	37	c.1873	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631259	0.46944	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.30448	1.53;1.53;1.54	5.84	5.84	0.93424	.	0.051117	0.85682	D	0.000000	T	0.49626	0.1568	L	0.45581	1.43	0.40503	D	0.980663	D;D;D	0.69078	0.996;0.997;0.996	P;D;P	0.77004	0.877;0.989;0.877	T	0.17592	-1.0364	10	0.19147	T	0.46	-26.2487	20.1386	0.98045	0.0:0.0:1.0:0.0	.	626;625;625	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	625;626;594	ENSP00000278590:D625N;ENSP00000431821:D626N;ENSP00000413094:D594N	ENSP00000278590:D625N	D	+	1	0	ZC3H12C	109540893	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.281000	0.95811	2.767000	0.95098	0.561000	0.74099	GAC	-	NULL		0.512	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	protein_coding	OTTHUMT00000390491.1	G	NM_033390	-		110035683	1	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	SNP	0.995	A	A	110035683	G	A	110035683	3	1	20	1	0	0	0	0	1	0	0	0	17570	1290	45	2	1895	2	ZC3H12C	11	110035683	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	6168800	110035683	24970833	31	1380											
CEP164	22897	genome.wustl.edu	37	chr11	117222572	117222572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctatgtgggaccatccAtgtgacgaacactatcggag	11	10	1	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr11:117222572A>G	ENST00000278935.3	+	5	408	c.261A>G	c.(259-261)ccA>ccG	p.P87P		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	87	Interaction with ATRIP.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		GGGACCATCCATGTGACGAAC	0.473																																																	0								ENSG00000110274						117	104	108					11																	117222572		2201	4296	6497	CEP164	SO:0001819	synonymous_variant	0			-	HGNC	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.261A>G	11.37:g.117222572A>G		Somatic	0	43	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	31	0	0	27	0.00	0	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P87	ENST00000278935.3	37	c.261	CCDS31683.1	11																																																																																			-	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom		0.473	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	protein_coding	OTTHUMT00000392893.1	A	NM_014956	-		117222572	1	no_errors	ENST00000278935	ensembl	human	known	74_37	silent	SNP	0.006	G	G	117222572	A	G	117222572	2	3	20	1	0	0	0	0	0	0	0	1	3251	204	8	5		5	CEP164	11	117222572	Silent	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09	7186889	117222572	17783944	32	1381											
SLC6A12	6539	genome.wustl.edu	37	chr12	308037	308037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggctccgggaagggtgaCacctctgatcagcaaaatga	13	9	2	3			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:308037C>T	ENST00000428720.1	-	8	1515	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	SLC6A12_ENST00000397296.2_Missense_Mutation_p.V258I|SLC6A12_ENST00000424061.2_Missense_Mutation_p.V258I|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000359674.4_Missense_Mutation_p.V258I|SLC6A12_ENST00000536824.1_Missense_Mutation_p.V258I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	258					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAAGGGTGACACCTCTGATC	0.557																																																	0								ENSG00000111181						143	118	126					12																	308037		2203	4300	6503	SLC6A12	SO:0001583	missense	0			-	HGNC	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.772G>A	12.37:g.308037C>T	ENSP00000388184:p.Val258Ile	Somatic	0	35	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	43	0	0	24	0.00	0	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.V258I	ENST00000428720.1	37	c.772	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	6.803	0.517121	0.13005	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	4.44	-0.782	0.10961	.	0.225800	0.35677	N	0.003054	T	0.65719	0.2718	L	0.46567	1.45	0.30256	N	0.793604	B	0.18863	0.031	B	0.31016	0.123	T	0.58624	-0.7604	10	0.36615	T	0.2	.	10.4212	0.44352	0.0:0.7389:0.0:0.2611	.	258	P48065	S6A12_HUMAN	I	258	ENSP00000352702:V258I;ENSP00000380464:V258I;ENSP00000388184:V258I;ENSP00000399136:V258I;ENSP00000444268:V258I	ENSP00000352702:V258I	V	-	1	0	SLC6A12	178298	0.243000	0.23878	0.000000	0.03702	0.005000	0.04900	0.926000	0.28804	-0.428000	0.07339	0.655000	0.94253	GTC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.557	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	protein_coding	OTTHUMT00000206671.2	C	NM_003044	-		308037	-1	no_errors	ENST00000359674	ensembl	human	known	74_37	missense	SNP	0.168	T	T	308037	C	T	308037	3	4	20	1	0	0	0	0	1	0	0	0	14683	478	17	2	1108	2	SLC6A12	12	308037	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		308037	133543858	33	1382											
CLEC1A	51267	genome.wustl.edu	37	chr12	10228209	10228209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagaactggtagcaattgTctccatgccatttccattgt	7	9	1	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:10228209T>C	ENST00000315330.4	-	4	499	c.437A>G	c.(436-438)gAc>gGc	p.D146G	CLEC1A_ENST00000457018.2_Missense_Mutation_p.D113G|CLEC1A_ENST00000420265.2_Missense_Mutation_p.D54G	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	146	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GTAGCAATTGTCTCCATGCCA	0.393																																																	0								ENSG00000150048						142	134	137					12																	10228209		2203	4300	6503	CLEC1A	SO:0001583	missense	0			-	HGNC	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.437A>G	12.37:g.10228209T>C	ENSP00000326407:p.Asp146Gly	Somatic	0	29	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	17	0	0	15	58.33	21	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.D146G	ENST00000315330.4	37	c.437	CCDS8612.1	12	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164072	0.38217	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.13538	2.58;2.58;2.58	5.06	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.103311	0.43110	D	0.000613	T	0.11324	0.0276	N	0.24115	0.695	0.32361	N	0.557112	D;P;P	0.56521	0.976;0.884;0.57	P;B;B	0.49922	0.626;0.283;0.101	T	0.07009	-1.0795	10	0.22706	T	0.39	.	6.9437	0.24506	0.0:0.1016:0.0:0.8984	.	54;113;146	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	G	146;113;54	ENSP00000326407:D146G;ENSP00000415048:D113G;ENSP00000417010:D54G	ENSP00000326407:D146G	D	-	2	0	CLEC1A	10119476	0.931000	0.31567	0.995000	0.50966	0.544000	0.35116	1.532000	0.36029	2.040000	0.60383	0.533000	0.62120	GAC	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.393	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC1A	protein_coding	OTTHUMT00000399924.1	T	NM_016511	-		10228209	-1	no_errors	ENST00000315330	ensembl	human	known	74_37	missense	SNP	0.978	C	C	10228209	T	C	10228209	3	2	20	1	0	0	0	0	1	0	0	0	3507	1667	58	5	417	5	CLEC1A	12	10228209	Missense_Mutation	SNP	T	TCGA-DX-A1KW-01A-22D-A24N-09	9920172	10228209	123623686	34	1383											
PRB3	5544	genome.wustl.edu	37	chr12	11420585	11420585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttctggctttcccggacGaggtgggggaccttgggact	15	11	1	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:11420585G>A	ENST00000279573.7	-	3	733	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.R179C|PRB3_ENST00000381842.3_Missense_Mutation_p.R200C			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	200	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.R200C(1)|p.R179C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000197870						89	121	112					12																	11420585		1613	3640	5253	PRB3	SO:0001583	missense	0			-	HGNC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.598C>T	12.37:g.11420585G>A	ENSP00000279573:p.Arg200Cys	Somatic	0	46	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	64	14.67	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	26	0	0	20	39.39	13	NULL	p.R200C	ENST00000279573.7	37	c.598		12	.	.	.	.	.	.	.	.	.	.	.	4.361	0.066566	0.08388	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05081	3.5;3.51	0.894	-1.79	0.07932	.	20.095700	0.02208	U	0.062937	T	0.03390	0.0098	.	.	.	0.09310	N	1	P	0.50066	0.931	B	0.31390	0.129	T	0.31971	-0.9924	9	0.59425	D	0.04	.	0.3334	0.00322	0.2084:0.2458:0.2994:0.2464	.	200	Q04118	PRB3_HUMAN	C	200;179	ENSP00000371264:R200C;ENSP00000442626:R179C	ENSP00000279573:R200C	R	-	1	0	PRB3	11311852	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.481000	0.02323	-0.639000	0.05502	0.134000	0.15878	CGT	-	NULL		0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	protein_coding	OTTHUMT00000402119.5	G	NM_006249	-		11420585	-1	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	SNP	0.000	A	A	11420585	G	A	11420585	3	1	20	1	0	0	0	0	1	0	0	0	12449	1058	37	1	339	1	PRB3	12	11420585	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	1192376	11420585	122431310	35	1384											
GXYLT1	283464	genome.wustl.edu	37	chr12	42512817	42512817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactctgcctttaaagctAtgatgtagctgatcttcagc	7	10	3	2	rs201566551		TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					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						CTTTAAAGCTATGATGTAGCT	0.323																																																	0								ENSG00000151233						71	64	66					12																	42512817		1859	4097	5956	GXYLT1	SO:0001819	synonymous_variant	0			-	HGNC	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.471T>C	12.37:g.42512817A>G		Somatic	0	50	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	60	13.04	B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	37	17.78	8	38	24.00	12	pfam_Glyco_trans_8	p.H157	ENST00000398675.3	37	c.471	CCDS41772.1	12																																																																																			-	NULL		0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	protein_coding	OTTHUMT00000403778.1	A	XM_290597	rs201566551		42512817	-1	no_errors	ENST00000398675	ensembl	human	known	74_37	silent	SNP	0.063	G	G	42512817	A	G	42512817	2	3	20	1	0	0	0	0	0	0	0	1	6905	446	16	5		5	GXYLT1	12	42512817	Silent	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09	31092232	42512817	91339078	36	1385											
DIP2B	57609	genome.wustl.edu	37	chr12	51126229	51126229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgttgcactccagcagtcCttctctaagctcttcaaaga	7	14	3	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:51126229C>T	ENST00000301180.5	+	32	3925	c.3891C>T	c.(3889-3891)tcC>tcT	p.S1297S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1297						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCCAGCAGTCCTTCTCTAAGC	0.552																																																	0								ENSG00000066084						100	90	93					12																	51126229		2203	4300	6503	DIP2B	SO:0001819	synonymous_variant	0			-	HGNC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3891C>T	12.37:g.51126229C>T		Somatic	0	47	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	111	766	12.64	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	33	0	0	635	12.89	94	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S1297	ENST00000301180.5	37	c.3891	CCDS31799.1	12																																																																																			-	pfam_AMP-dep_Synth/Lig		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	protein_coding	OTTHUMT00000404243.1	C	NM_173602	-		51126229	1	no_errors	ENST00000301180	ensembl	human	known	74_37	silent	SNP	1.000	T	T	51126229	C	T	51126229	2	4	20	1	0	0	0	0	0	0	0	1	4530	668	24	2		2	DIP2B	12	51126229	Silent	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	8613412	51126229	82725666	37	1386											
KRT1	3848	genome.wustl.edu	37	chr12	53069189	53069190	+	In_Frame_Ins	INS	-	-	GCC													ccggagccgtagctgccatgINSgccgccgccgccacctccag							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:53069189_53069190insGCC	ENST00000252244.3	-	9	1780_1781	c.1722_1723insGGC	c.(1720-1725)ggccat>ggcGGCcat	p.574_575insG		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	574	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tagctgccatggccgccgccgc	0.748																																																	0								ENSG00000167768			21,2759		2,17,1371						-0.6	0.1		dbSNP_130	5	28,5852		1,26,2913	no	coding	KRT1	NM_006121.3		3,43,4284	A1A1,A1R,RR		0.4762,0.7554,0.5658				49,8611				KRT1	SO:0001652	inframe_insertion	0				HGNC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1720_1722dupGGC	12.37:g.53069196_53069198dupGCC	ENSP00000252244:p.Gly575_Gly576dup	Somatic	0	31	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	243	9.67	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Ins	INS	19	0	0	195	0.00	0	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.574in_frame_insG	ENST00000252244.3	37	c.1723_1722	CCDS8836.1	12																																																																																			-	NULL		0.748	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	protein_coding	OTTHUMT00000405706.1	-	NM_006121			53069190	-1	no_errors	ENST00000252244	ensembl	human	known	74_37	in_frame_ins	INS	0.358:0.643	GCC	GCC	53069190	-	GCC	53069189	7	5	20	1	0	1	1	0	0	0	0	0	8449	1348	47	0	215	0	KRT1	12	53069189	In_Frame_Ins	INS	-	TCGA-DX-A1KW-01A-22D-A24N-09	1942960	53069189	80782706	38	1387											
PA2G4	5036	genome.wustl.edu	37	chr12	56501326	56501327	+	Frame_Shift_Del	DEL	AA	AA	-													ggacccaagtaacagggaggAaagcagatgttattaaggca							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:56501326_56501327delAA	ENST00000303305.6	+	5	834_835	c.415_416delAA	c.(415-417)aaafs	p.K139fs	PA2G4_ENST00000552766.1_Frame_Shift_Del_p.K139fs|RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Frame_Shift_Del_p.K120fs	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	139					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)			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)			AACAGGGAGGAAAGCAGATGTT	0.455																																																	0								ENSG00000170515																																			PA2G4	SO:0001589	frameshift_variant	0				HGNC	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.415_416delAA	12.37:g.56501326_56501327delAA	ENSP00000302886:p.Lys139fs	Somatic	0	37	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	64	51.88	O43846|Q9UM59	Frame_Shift_Del	DEL	35	0	0	54	0.00	0	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.K139fs	ENST00000303305.6	37	c.415_416	CCDS8902.1	12																																																																																			-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.455	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	protein_coding	OTTHUMT00000407767.1	AA	NM_006191			56501327	1	no_errors	ENST00000303305	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	56501327	AA	-	56501326	7	5	20	1	0	1	0	1	0	0	0	0	11363	247	9	0	433	0	PA2G4	12	56501326	Frame_Shift_Del	DEL	AA	TCGA-DX-A1KW-01A-22D-A24N-09	3432137	56501326	77350569	39	1388	19	3									
PA2G4	5036	genome.wustl.edu	37	chr12	56501329	56501330	+	Frame_Shift_Ins	INS	-	-	C													ccaagtaacagggaggaaagINScagatgttattaaggcagct					rs368713215		TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:56501329_56501330insC	ENST00000303305.6	+	5	837_838	c.418_419insC	c.(418-420)gcafs	p.A140fs	PA2G4_ENST00000552766.1_Frame_Shift_Ins_p.A140fs|RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Frame_Shift_Ins_p.A121fs	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	140					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)			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)			AGGGAGGAAAGCAGATGTTATT	0.446																																																	0								ENSG00000170515																																			PA2G4	SO:0001589	frameshift_variant	0				HGNC	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.419dupC	12.37:g.56501330_56501330dupC	ENSP00000302886:p.Ala140fs	Somatic	0	35	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	45	60.53	O43846|Q9UM59	Frame_Shift_Ins	INS	37	0	0	42	63.16	72	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.D141fs	ENST00000303305.6	37	c.418_419	CCDS8902.1	12																																																																																			-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.446	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	protein_coding	OTTHUMT00000407767.1	-	NM_006191			56501330	1	no_errors	ENST00000303305	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	C	C	56501330	-	C	56501329	7	5	20	1	0	1	1	0	0	0	0	0	11363	971	34	0	436	0	PA2G4	12	56501329	Frame_Shift_Ins	INS	-	TCGA-DX-A1KW-01A-22D-A24N-09	3	56501329	77350566	40	1389	19	3									
PA2G4	5036	genome.wustl.edu	37	chr12	56501332	56501332	+	Missense_Mutation	SNP	G	G	A													aagtaacagggaggaaagcaGatgttattaaggcagctcac							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:56501332G>A	ENST00000303305.6	+	5	840	c.421G>A	c.(421-423)Gat>Aat	p.D141N	PA2G4_ENST00000552766.1_Missense_Mutation_p.D141N|RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D122N	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	141					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)			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)			GAGGAAAGCAGATGTTATTAA	0.443																																																	0								ENSG00000170515						122	120	121					12																	56501332		2203	4300	6503	PA2G4	SO:0001583	missense	0			-	HGNC	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.421G>A	12.37:g.56501332G>A	ENSP00000302886:p.Asp141Asn	Somatic	0	38	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	42	62.16	O43846|Q9UM59	Missense_Mutation	SNP	37	0	0	38	65.45	72	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.D141N	ENST00000303305.6	37	c.421	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.135088	0.94517	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.79	4.79	0.61399	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.994	D;D;D	0.91635	0.999;0.968;0.929	D	0.88851	0.3319	10	0.56958	D	0.05	.	16.7759	0.85550	0.0:0.0:1.0:0.0	.	141;141;141	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	N	122;141;141;170;141;141;130	ENSP00000449770:D122N;ENSP00000302886:D141N;ENSP00000448557:D141N;ENSP00000447615:D130N	ENSP00000302886:D141N	D	+	1	0	PA2G4;RP11-603J24.9	54787599	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.318000	0.96334	2.497000	0.84241	0.655000	0.94253	GAT	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	protein_coding	OTTHUMT00000407767.1	G	NM_006191	-		56501332	1	no_errors	ENST00000303305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56501332	G	A	56501332	3	1	20	1	0	0	0	0	1	0	0	0	11363	942	33	2	439	2	PA2G4	12	56501332	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	3	56501332	77350563	41	1390	19	3									
RPL41	6171	genome.wustl.edu	37	chr12	56511286	56511286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagcgcaaaagaagaaAgatgaggcagaggtccaagt	14	6	0	6			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:56511286A>T	ENST00000546591.1	+	3	258	c.56A>T	c.(55-57)aAg>aTg	p.K19M	RPL41_ENST00000552314.1_3'UTR|RPL41_ENST00000501597.3_Missense_Mutation_p.K19M|ZC3H10_ENST00000257940.2_5'Flank|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001035267.1	NP_001030344.1	P62945	RL41_HUMAN	ribosomal protein L41	19					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)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)							OV - Ovarian serous cystadenocarcinoma(18;0.12)			AAAAGAAGAAAGATGAGGCAG	0.493																																																	0								ENSG00000229117						103	95	98					12																	56511286		1844	4038	5882	RPL41	SO:0001583	missense	0			-	HGNC	AB007186	CCDS44919.1	12q13	2011-04-06			ENSG00000229117	ENSG00000229117		"L ribosomal proteins"	10354	protein-coding gene	gene with protein product		613315				1326959, 9582194	Standard	NM_021104		Approved	L41	uc001sjo.3	P62945		ENST00000546591.1:c.56A>T	12.37:g.56511286A>T	ENSP00000449026:p.Lys19Met	Somatic	0	51	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	18	72.73	A6NG21|P28751	Missense_Mutation	SNP	29	0	0	8	77.14	27	pfam_Ribosomal_L41	p.K19M	ENST00000546591.1	37	c.56	CCDS44919.1	12	.	.	.	.	.	.	.	.	.	.	A	15.55	2.868102	0.51588	.	.	ENSG00000229117	ENST00000546591;ENST00000501597	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	T	0.69878	0.3160	.	.	.	0.32844	D	0.505762	D	0.55800	0.973	D	0.65323	0.934	T	0.78986	-0.1987	7	0.87932	D	0	.	13.2483	0.60036	1.0:0.0:0.0:0.0	.	19	P62945	RL41_HUMAN	M	19	.	ENSP00000420821:K19M	K	+	2	0	RPL41	54797553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.454000	0.80714	2.045000	0.60652	0.529000	0.55759	AAG	-	pfam_Ribosomal_L41		0.493	RPL41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL41	protein_coding	OTTHUMT00000407819.1	A		-		56511286	1	no_errors	ENST00000501597	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56511286	A	T	56511286	3	4	20	1	0	0	0	0	1	0	0	0	13604	72	3	5	66	5	RPL41	12	56511286	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09	9954	56511286	77340609	42	1391											
ANO4	121601	genome.wustl.edu	37	chr12	101490347	101490347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagtctgagtgggagaacaGcttcaccctgaaaatgtttc	11	8	2	4			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:101490347G>T	ENST00000392977.3	+	19	1982	c.1772G>T	c.(1771-1773)aGc>aTc	p.S591I	ANO4_ENST00000299222.9_Missense_Mutation_p.S111I|ANO4_ENST00000550015.1_Missense_Mutation_p.S111I|ANO4_ENST00000392979.3_Missense_Mutation_p.S556I			Q32M45	ANO4_HUMAN	anoctamin 4	591					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGGAGAACAGCTTCACCCTG	0.473										HNSCC(74;0.22)																																							0								ENSG00000151572						127	114	118					12																	101490347		2203	4300	6503	ANO4	SO:0001583	missense	0			-	HGNC	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1772G>T	12.37:g.101490347G>T	ENSP00000376703:p.Ser591Ile	Somatic	0	38	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	25	0	0	50	0.00	0	pfam_Anoctamin	p.S591I	ENST00000392977.3	37	c.1772		12	.	.	.	.	.	.	.	.	.	.	G	31	5.084330	0.94100	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	M	0.92459	3.31	0.80722	D	1	B;B;B	0.30361	0.18;0.277;0.107	B;B;B	0.43575	0.188;0.424;0.299	D	0.83695	0.0179	10	0.87932	D	0	.	19.5892	0.95501	0.0:0.0:1.0:0.0	.	111;591;556	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	I	556;111;591;111	ENSP00000376705:S556I;ENSP00000299222:S111I;ENSP00000376703:S591I;ENSP00000450192:S111I	ENSP00000299222:S111I	S	+	2	0	ANO4	100014478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.729000	0.93468	0.557000	0.71058	AGC	-	pfam_Anoctamin		0.473	ANO4-002	KNOWN	basic	protein_coding	ANO4	protein_coding	OTTHUMT00000409295.1	G	NM_178826	-		101490347	1	no_errors	ENST00000392977	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101490347	G	T	101490347	3	4	20	1	0	0	0	0	1	0	0	0	699	971	34	3	1733	3	ANO4	12	101490347	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	44979061	101490347	32361548	43	1392											
STAB2	55576	genome.wustl.edu	37	chr12	104099506	104099506	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgagaaccgtcattGtgagtacaataattgaatca	9	5	2	3			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr12:104099506G>T	ENST00000388887.2	+	37	4200		c.e37+1			NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCGTCATTGTGAGTACAAT	0.423																																																	0								ENSG00000136011						118	102	108					12																	104099506		2203	4300	6503	STAB2	SO:0001630	splice_region_variant	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3996+1G>T	12.37:g.104099506G>T		Somatic	0	46	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Splice_Site	SNP	25	0	0	46	0.00	0	-	e37+1	ENST00000388887.2	37	c.3996+1	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029656	0.54790	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102623636	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.241000	0.78201	2.736000	0.93811	0.655000	0.94253	.	-	-		0.423	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	G		-	Intron	104099506	1	no_errors	ENST00000388887	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	104099506	G	T	104099506	5	4	20	1	0	0	0	0	0	0	1	0	15245	1391	48	3	4143	3	STAB2	12	104099506	Splice_Site	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	2609159	104099506	29752389	44	1393											
SLITRK6	84189	genome.wustl.edu	37	chr13	86369914	86369914	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggctgttgcagacaacatCaccaattatagactgtggag	11	8	1	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr13:86369914C>T	ENST00000400286.2	-	2	1328	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	244	LRRCT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAGACAACATCACCAATTATA	0.403																																																	0								ENSG00000184564						77	71	73					13																	86369914		1880	4102	5982	SLITRK6	SO:0001583	missense	0			-	HGNC	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.730G>A	13.37:g.86369914C>T	ENSP00000383143:p.Asp244Asn	Somatic	0	33	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	25	0	0	33	0.00	0	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D244N	ENST00000400286.2	37	c.730	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971271	0.53614	.	.	ENSG00000184564	ENST00000400286	T	0.54279	0.58	5.96	5.96	0.96718	Cysteine-rich flanking region, C-terminal (1);	0.051316	0.85682	D	0.000000	T	0.41650	0.1168	N	0.22421	0.69	0.80722	D	1	P	0.41366	0.747	B	0.36418	0.224	T	0.37619	-0.9698	10	0.48119	T	0.1	-16.2777	18.9858	0.92769	0.0:1.0:0.0:0.0	.	244	Q9H5Y7	SLIK6_HUMAN	N	244	ENSP00000383143:D244N	ENSP00000383143:D244N	D	-	1	0	SLITRK6	85267915	1.000000	0.71417	0.996000	0.52242	0.231000	0.25187	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAT	-	smart_Cys-rich_flank_reg_C		0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	protein_coding	OTTHUMT00000045404.2	C	NM_032229	-		86369914	-1	no_errors	ENST00000400286	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86369914	C	T	86369914	3	4	20	1	0	0	0	0	1	0	0	0	14755	826	29	2	1799	2	SLITRK6	13	86369914	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		86369914	28799964	45	1394											
FLRT2	23768	genome.wustl.edu	37	chr14	86089224	86089224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catacaaactcacatgggtgAaaatgggccacagtttagta	9	8	1	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr14:86089224A>C	ENST00000330753.4	+	2	2133	c.1366A>C	c.(1366-1368)Aaa>Caa	p.K456Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.K456Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	456	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CACATGGGTGAAAATGGGCCA	0.498																																																	0								ENSG00000185070						96	86	89					14																	86089224		2203	4300	6503	FLRT2	SO:0001583	missense	0			-	HGNC	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.1366A>C	14.37:g.86089224A>C	ENSP00000332879:p.Lys456Gln	Somatic	0	27	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	A0AV84|B7ZLP3	Missense_Mutation	SNP	30	0	0	15	34.78	8	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.K456Q	ENST00000330753.4	37	c.1366	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	A	19.64	3.866182	0.71949	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56611	0.45;0.45	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.052776	0.85682	D	0.000000	T	0.65995	0.2745	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66073	-0.6014	10	0.52906	T	0.07	-20.0523	16.8222	0.85835	1.0:0.0:0.0:0.0	.	456	O43155	FLRT2_HUMAN	Q	456;456;109	ENSP00000332879:K456Q;ENSP00000451050:K456Q	ENSP00000332879:K456Q	K	+	1	0	FLRT2	85158977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.485000	0.81204	2.371000	0.80710	0.533000	0.62120	AAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	protein_coding	OTTHUMT00000413193.1	A		-		86089224	1	no_errors	ENST00000330753	ensembl	human	known	74_37	missense	SNP	1.000	C	C	86089224	A	C	86089224	3	2	20	1	0	0	0	0	1	0	0	0	5941	247	9	5	1368	5	FLRT2	14	86089224	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09		86089224	21260316	46	1395											
MAP1A	4130	genome.wustl.edu	37	chr15	43815590	43815590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccagacagaacagaagCcagagaggaaagtgaacctg	12	10	0	5			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr15:43815590C>T	ENST00000300231.5	+	4	2369	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	MAP1A_ENST00000399453.1_Missense_Mutation_p.A640V|MAP1A_ENST00000382031.1_Missense_Mutation_p.A878V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	640					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAACAGAAGCCAGAGAGGAA	0.498																																																	0								ENSG00000166963						38	38	38					15																	43815590		1920	4113	6033	MAP1A	SO:0001583	missense	0			-	HGNC	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1919C>T	15.37:g.43815590C>T	ENSP00000300231:p.Ala640Val	Somatic	0	19	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	38	0	0	32	38.46	20	NULL	p.A640V	ENST00000300231.5	37	c.1919	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593065	0.13875	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.49432	0.78;0.78;0.78	5.26	2.21	0.28008	.	0.266832	0.20011	N	0.101129	T	0.41880	0.1178	M	0.72118	2.19	0.29009	N	0.886993	P	0.35575	0.51	B	0.34536	0.185	T	0.31641	-0.9936	10	0.33940	T	0.23	-4.8583	7.0206	0.24912	0.442:0.4654:0.0:0.0926	.	640	P78559	MAP1A_HUMAN	V	878;640;640	ENSP00000371462:A878V;ENSP00000382380:A640V;ENSP00000300231:A640V	ENSP00000300231:A640V	A	+	2	0	MAP1A	41602882	0.012000	0.17670	0.861000	0.33841	0.730000	0.41778	0.059000	0.14322	0.297000	0.22615	0.563000	0.77884	GCC	-	NULL		0.498	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	protein_coding	OTTHUMT00000132894.5	C	NM_002373	-		43815590	1	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	SNP	0.668	T	T	43815590	C	T	43815590	3	4	20	1	0	0	0	0	1	0	0	0	9229	739	26	2	1921	2	MAP1A	15	43815590	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		43815590	58715802	47	1396											
MAPK6	5597	genome.wustl.edu	37	chr15	52356317	52356317	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccttgttggcaatactcagAtcatcatgaaaacaaatatt	6	8	3	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr15:52356317A>T	ENST00000261845.5	+	6	2093	c.1286A>T	c.(1285-1287)gAt>gTt	p.D429V	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	429					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CAATACTCAGATCATCATGAA	0.383																																																	0								ENSG00000069956						49	48	48					15																	52356317		2194	4292	6486	MAPK6	SO:0001583	missense	0			-	HGNC	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1286A>T	15.37:g.52356317A>T	ENSP00000261845:p.Asp429Val	Somatic	0	53	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	27	62.50	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	29	0	0	24	45.45	20	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.D429V	ENST00000261845.5	37	c.1286	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569905	0.86542	.	.	ENSG00000069956	ENST00000261845	T	0.48522	0.81	5.2	5.2	0.72013	.	0.042539	0.85682	D	0.000000	T	0.53190	0.1781	L	0.44542	1.39	0.80722	D	1	D	0.58268	0.982	P	0.52758	0.708	T	0.57985	-0.7716	10	0.87932	D	0	-19.857	15.2102	0.73219	1.0:0.0:0.0:0.0	.	429	Q16659	MK06_HUMAN	V	429	ENSP00000261845:D429V	ENSP00000261845:D429V	D	+	2	0	MAPK6	50143609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.088000	0.94132	2.019000	0.59389	0.519000	0.50382	GAT	-	NULL		0.383	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	protein_coding	OTTHUMT00000254841.2	A	NM_002748	-		52356317	1	no_errors	ENST00000261845	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52356317	A	T	52356317	3	4	20	1	0	0	0	0	1	0	0	0	9283	333	12	5	1304	5	MAPK6	15	52356317	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09	8540727	52356317	50175075	48	1397											
MYLK3	91807	genome.wustl.edu	37	chr16	46766264	46766264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcccagggccccaaCctcgtggtcattgtcgtcac	11	16	2	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr16:46766264C>A	ENST00000394809.4	-	4	1433	c.1318G>T	c.(1318-1320)Gtt>Ttt	p.V440F	MYLK3_ENST00000536476.1_Missense_Mutation_p.V99F	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	440					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGGGCCCCAACCTCGTGGTCA	0.667																																																	0								ENSG00000140795						66	75	72					16																	46766264		2203	4300	6503	MYLK3	SO:0001583	missense	0			-	HGNC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1318G>T	16.37:g.46766264C>A	ENSP00000378288:p.Val440Phe	Somatic	0	36	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	66	25.00	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	34	2.86	1	36	30.77	16	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V440F	ENST00000394809.4	37	c.1318	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911912	0.33721	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.69040	-0.37;-0.35	5.08	-0.732	0.11147	.	1.264530	0.06160	N	0.675855	T	0.37376	0.1001	N	0.08118	0	0.09310	N	1	P;B	0.38642	0.641;0.229	B;B	0.31614	0.133;0.054	T	0.36016	-0.9765	10	0.59425	D	0.04	.	0.9642	0.01402	0.317:0.3486:0.154:0.1803	.	440;440	B5BUL9;Q32MK0	.;MYLK3_HUMAN	F	440;99	ENSP00000378288:V440F;ENSP00000439297:V99F	ENSP00000378288:V440F	V	-	1	0	MYLK3	45323765	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	0.229000	0.21039	-0.254000	0.11334	GTT	-	NULL		0.667	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	protein_coding	OTTHUMT00000255743.2	C	NM_182493	-		46766264	-1	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	SNP	0.000	A	A	46766264	C	A	46766264	3	1	20	1	0	0	0	0	1	0	0	0	10060	507	18	3	1181	3	MYLK3	16	46766264	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		46766264	43588489	49	1398											
MYO5B	4645	genome.wustl.edu	37	chr18	47431107	47431107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataacaacggcagctctgcGgaccctctggtaggcctggc	13	13	2	0	rs569933953	byFrequency	TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr18:47431107G>A	ENST00000285039.7	-	20	2805	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	836	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		GCAGCTCTGCGGACCCTCTGG	0.642													G|||	4	0.000798722	0	0	5008	,	,		15762	0		0	False		,,,				2504	0.0041																0								ENSG00000167306						46	53	50					18																	47431107		1962	4134	6096	MYO5B	SO:0001583	missense	0			-	HGNC	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.2506C>T	18.37:g.47431107G>A	ENSP00000285039:p.Arg836Cys	Somatic	0	67	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	47	46.59	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	20	0	0	19	59.57	28	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R836C	ENST00000285039.7	37	c.2506	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901294	0.17760	.	.	ENSG00000167306	ENST00000285039	T	0.72725	-0.68	5.26	1.97	0.26223	.	0.267312	0.33875	N	0.004475	T	0.69223	0.3087	M	0.76938	2.355	0.09310	N	0.999999	B	0.17667	0.023	B	0.22753	0.041	T	0.62595	-0.6821	10	0.44086	T	0.13	.	11.8519	0.52415	0.2353:0.0:0.7647:0.0	.	836	Q9ULV0	MYO5B_HUMAN	C	836	ENSP00000285039:R836C	ENSP00000285039:R836C	R	-	1	0	MYO5B	45685105	0.012000	0.17670	0.046000	0.18839	0.107000	0.19398	1.183000	0.32041	0.577000	0.29470	0.655000	0.94253	CGC	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.642	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	G		-		47431107	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	SNP	0.002	A	A	47431107	G	A	47431107	3	1	20	1	0	0	0	0	1	0	0	0	10081	1116	39	1	3124	1	MYO5B	18	47431107	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09		47431107	30646141	50	1399											
CDH7	1005	genome.wustl.edu	37	chr18	63489324	63489324	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaattttacaggagtcatCaagactgcccttccaaacat	6	10	2	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr18:63489324C>A	ENST00000397968.2	+	5	1059	c.633C>A	c.(631-633)atC>atA	p.I211I	CDH7_ENST00000536984.2_Silent_p.I211I|CDH7_ENST00000323011.3_Silent_p.I211I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	211	Cadherin 2. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGAGTCATCAAGACTGCCC	0.388																																																	0								ENSG00000081138						93	81	85					18																	63489324		2203	4300	6503	CDH7	SO:0001819	synonymous_variant	0			-	HGNC	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.633C>A	18.37:g.63489324C>A		Somatic	0	35	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q9H157	Silent	SNP	40	0	0	47	17.54	10	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I211	ENST00000397968.2	37	c.633	CCDS11993.1	18																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	protein_coding	OTTHUMT00000256217.2	C	NM_033646	-		63489324	1	no_errors	ENST00000323011	ensembl	human	known	74_37	silent	SNP	1.000	A	A	63489324	C	A	63489324	2	1	20	1	0	0	0	0	0	0	0	1	3117	816	29	3		3	CDH7	18	63489324	Silent	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	16058217	63489324	14587924	51	1400											
AP3D1	8943	genome.wustl.edu	37	chr19	2129123	2129123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggggctcgatcagctTcttgcccagccgcggttcca	14	13	2	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr19:2129123T>C	ENST00000345016.5	-	8	1003	c.772A>G	c.(772-774)Aag>Gag	p.K258E	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.K258E|AP3D1_ENST00000356926.4_Splice_Site_p.K167E|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	258					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TCGATCAGCTTCTTGCCCAGC	0.682																																																	0								ENSG00000065000						19	23	22					19																	2129123		1972	4158	6130	AP3D1	SO:0001583	missense	0			-	HGNC	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.772A>G	19.37:g.2129123T>C	ENSP00000344055:p.Lys258Glu	Somatic	0	41	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	67	45.08	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	21	0	0	25	56.14	32	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.K258E	ENST00000345016.5	37	c.772	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352807	0.61293	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722	T;T;T	0.23552	1.9;1.9;1.9	4.33	4.33	0.51752	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.983	D;D;D	0.91635	0.994;0.999;0.92	T	0.76743	-0.2847	10	0.87932	D	0	-44.1451	13.1092	0.59263	0.0:0.0:0.0:1.0	.	258;258;167	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	E	167;258;258;258	ENSP00000349398:K167E;ENSP00000344055:K258E;ENSP00000347416:K258E	ENSP00000341579:K258E	K	-	1	0	AP3D1	2080123	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.454000	0.80714	1.940000	0.56252	0.533000	0.62120	AAG	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.682	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	protein_coding	OTTHUMT00000450912.1	T		-		2129123	-1	no_errors	ENST00000355272	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2129123	T	C	2129123	3	2	20	1	0	0	0	0	1	0	0	0	746	1797	62	5	2939	5	AP3D1	19	2129123	Missense_Mutation	SNP	T	TCGA-DX-A1KW-01A-22D-A24N-09		2129123	56999860	52	1401											
FBN3	84467	genome.wustl.edu	37	chr19	8171060	8171060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactggaaactgccaaacGtgttgacgcagtcacccccc	8	16	1	1	rs372444818		TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr19:8171060G>A	ENST00000600128.1	-	38	5159	c.4745C>T	c.(4744-4746)aCg>aTg	p.T1582M	FBN3_ENST00000270509.2_Missense_Mutation_p.T1582M|FBN3_ENST00000601739.1_Missense_Mutation_p.T1582M			Q75N90	FBN3_HUMAN	fibrillin 3	1582	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTGCCAAACGTGTTGACGCA	0.577																																																	0								ENSG00000142449	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	122	85	98		4745	3.2	0.9	19		98	0,8600		0,0,4300	no	missense	FBN3	NM_032447.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1582/2810	8171060	1,13005	2203	4300	6503	FBN3	SO:0001583	missense	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4745C>T	19.37:g.8171060G>A	ENSP00000470498:p.Thr1582Met	Somatic	0	23	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	34	0	0	51	31.58	24	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.T1582M	ENST00000600128.1	37	c.4745	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354845	0.61293	2.27E-4	0.0	ENSG00000142449	ENST00000270509	D	0.93189	-3.18	3.25	3.25	0.37280	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.96614	0.8895	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	D	0.96905	0.9663	10	0.54805	T	0.06	.	14.4308	0.67249	0.0:0.0:1.0:0.0	.	1582	Q75N90	FBN3_HUMAN	M	1582	ENSP00000270509:T1582M	ENSP00000270509:T1582M	T	-	2	0	FBN3	8077060	1.000000	0.71417	0.870000	0.34147	0.416000	0.31233	9.164000	0.94755	1.527000	0.49086	0.561000	0.74099	ACG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.577	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447	-		8171060	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8171060	G	A	8171060	3	1	20	1	0	0	0	0	1	0	0	0	5706	1145	40	1	3792	1	FBN3	19	8171060	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	6041937	8171060	50957923	53	1402											
ZNF443	10224	genome.wustl.edu	37	chr19	12541977	12541977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacattgctgacatgcatAgggtttctctgcactgtgag	10	11	1	2			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr19:12541977A>G	ENST00000301547.5	-	4	1206	c.1009T>C	c.(1009-1011)Tat>Cat	p.Y337H	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	337					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGACATGCATAGGGTTTCTCT	0.433																																																	0								ENSG00000180855						211	196	201					19																	12541977		2203	4299	6502	ZNF443	SO:0001583	missense	0			-	HGNC	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1009T>C	19.37:g.12541977A>G	ENSP00000301547:p.Tyr337His	Somatic	0	84	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	185	23.87		Missense_Mutation	SNP	49	0	0	104	22.39	30	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y337H	ENST00000301547.5	37	c.1009	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	A	14.29	2.492369	0.44352	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.21734	1.99	1.44	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18341	0.0440	N	0.12422	0.21	0.09310	N	1	P	0.43973	0.823	P	0.51516	0.672	T	0.15321	-1.0441	9	0.66056	D	0.02	.	8.3045	0.32034	1.0:0.0:0.0:0.0	.	337	Q9Y2A4	ZN443_HUMAN	H	337	ENSP00000301547:Y337H	ENSP00000301547:Y337H	Y	-	1	0	ZNF443	12402977	0.017000	0.18338	0.003000	0.11579	0.361000	0.29550	1.534000	0.36051	0.939000	0.37446	0.378000	0.23410	TAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	protein_coding	OTTHUMT00000344084.1	A	NM_005815	-		12541977	-1	no_errors	ENST00000301547	ensembl	human	known	74_37	missense	SNP	0.156	G	G	12541977	A	G	12541977	3	3	20	1	0	0	0	0	1	0	0	0	17923	420	15	5	1010	5	ZNF443	19	12541977	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09	4370917	12541977	46587006	54	1403											
GP6	51206	genome.wustl.edu	37	chr19	55530046	55530046	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagacttcgtttgtgaatGagacggtcagttcagcggtg	14	6	2	4			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr19:55530046G>C	ENST00000417454.1	-	6	725	c.698C>G	c.(697-699)tCa>tGa	p.S233*	GP6_ENST00000333884.2_Nonsense_Mutation_p.S215*|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Nonsense_Mutation_p.S233*|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	233					blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GTTTGTGAATGAGACGGTCAG	0.463																																																	0								ENSG00000088053						152	152	152					19																	55530046		1956	4144	6100	GP6	SO:0001587	stop_gained	0			-	HGNC	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.698C>G	19.37:g.55530046G>C	ENSP00000394922:p.Ser233*	Somatic	0	40	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	49	26.87	Q9HCN7|Q9UIF2	Nonsense_Mutation	SNP	33	0	0	43	30.65	19	smart_Ig_sub,smart_Ig_sub2	p.S233*	ENST00000417454.1	37	c.698	CCDS46184.1	19	.	.	.	.	.	.	.	.	.	.	g	16.82	3.228548	0.58777	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	.	.	.	2.9	-1.66	0.08265	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.1104	0.20097	0.5377:0.0:0.4623:0.0	.	.	.	.	X	233;233;215	.	ENSP00000308782:S233X	S	-	2	0	GP6	60221858	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.143000	0.10296	-0.290000	0.09025	0.655000	0.94253	TCA	-	NULL		0.463	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	protein_coding	OTTHUMT00000357006.1	G		-		55530046	-1	no_errors	ENST00000310373	ensembl	human	known	74_37	nonsense	SNP	0.000	C	C	55530046	G	C	55530046	4	2	20	1	0	0	0	0	0	1	0	0	6586	1294	45	4	1176	4	GP6	19	55530046	Nonsense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	42988069	55530046	3598937	55	1404											
TMEM150B	284417	genome.wustl.edu	37	chr19	55824327	55824327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagggcggagaagtcaAcggctaagagaccgaagagc	14	10	2	3			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr19:55824327A>C	ENST00000326652.4	-	8	784	c.602T>G	c.(601-603)gTt>gGt	p.V201G	CTD-2105E13.14_ENST00000596786.1_RNA|TMEM150B_ENST00000438693.1_Missense_Mutation_p.V201G	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	201						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GGAGAAGTCAACGGCTAAGAG	0.677																																																	0								ENSG00000180061						31	39	36					19																	55824327		2162	4267	6429	TMEM150B	SO:0001583	missense	0			-	HGNC	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.602T>G	19.37:g.55824327A>C	ENSP00000320757:p.Val201Gly	Somatic	0	44	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	60	47.41	B7ZW71	Missense_Mutation	SNP	23	0	0	19	42.42	14	pfam_Frag1/DRAM/Sfk1	p.V201G	ENST00000326652.4	37	c.602	CCDS42629.1	19	.	.	.	.	.	.	.	.	.	.	.	13.68	2.310295	0.40895	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.47177	0.85;0.85	4.55	4.55	0.56014	.	0.069055	0.56097	D	0.000026	T	0.63295	0.2499	M	0.75264	2.295	0.58432	D	0.999994	D	0.76494	0.999	D	0.68943	0.961	T	0.61749	-0.6999	10	0.27082	T	0.32	-23.5767	10.837	0.46694	1.0:0.0:0.0:0.0	.	201	A6NC51	T150B_HUMAN	G	201	ENSP00000320757:V201G;ENSP00000412658:V201G	ENSP00000320757:V201G	V	-	2	0	TMEM150B	60516139	0.421000	0.25465	0.595000	0.28798	0.134000	0.20937	3.187000	0.50950	2.001000	0.58596	0.418000	0.28097	GTT	-	pfam_Frag1/DRAM/Sfk1		0.677	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150B	protein_coding	OTTHUMT00000452685.1	A	NM_001085488	-		55824327	-1	no_errors	ENST00000326652	ensembl	human	known	74_37	missense	SNP	0.808	C	C	55824327	A	C	55824327	3	2	20	1	0	0	0	0	1	0	0	0	16075	43	2	5	103	5	TMEM150B	19	55824327	Missense_Mutation	SNP	A	TCGA-DX-A1KW-01A-22D-A24N-09	294281	55824327	3304656	56	1405											
ITSN1	6453	genome.wustl.edu	37	chr21	35195916	35195916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagtgggcgacaaggccGgagtcttcccttctaactat	11	11	2	0			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chr21:35195916G>A	ENST00000381318.3	+	25	3430	c.3142G>A	c.(3142-3144)Gga>Aga	p.G1048R	ITSN1_ENST00000399352.1_Missense_Mutation_p.G1043R|ITSN1_ENST00000381291.4_Missense_Mutation_p.G1048R|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.G1048R|ITSN1_ENST00000399353.1_Missense_Mutation_p.G1006R|ITSN1_ENST00000437442.2_Missense_Mutation_p.G1043R|ITSN1_ENST00000399367.3_Missense_Mutation_p.G1043R|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399326.3_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1048	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CGACAAGGCCGGAGTCTTCCC	0.473																																																	0								ENSG00000205726						126	113	118					21																	35195916		2203	4300	6503	ITSN1	SO:0001583	missense	0			-	HGNC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3142G>A	21.37:g.35195916G>A	ENSP00000370719:p.Gly1048Arg	Somatic	0	69	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	80	37.50	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	34	0	0	29	45.28	24	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.G1048R	ENST00000381318.3	37	c.3142	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.270152	0.95429	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000437442	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.92	5.92	0.95590	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	H	0.96301	3.8	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.93;0.96;0.985;0.999	P;P;P;P;D	0.72075	0.895;0.718;0.718;0.849;0.976	D	0.94719	0.7899	10	0.87932	D	0	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	1011;1043;1043;1048;1006	A7XZY7;A8CTY3;A8CTX8;Q15811;E7ERJ0	.;.;.;ITSN1_HUMAN;.	R	1006;1048;1048;1048;1043;1043;1043;1043	ENSP00000382290:G1006R;ENSP00000370719:G1048R;ENSP00000370691:G1048R;ENSP00000370685:G1048R;ENSP00000382301:G1043R;ENSP00000382289:G1043R;ENSP00000387377:G1043R	ENSP00000370685:G1048R	G	+	1	0	ITSN1	34117786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.795000	0.96236	0.655000	0.94253	GGA	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.473	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	protein_coding	OTTHUMT00000140070.4	G	NM_003024	-		35195916	1	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35195916	G	A	35195916	3	1	20	1	0	0	0	0	1	0	0	0	7928	1117	39	1	3236	1	ITSN1	21	35195916	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09		35195916	12933979	57	1406											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766740	27766740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatggcagcctgtttgaCcagtacatgctttggttcct	9	12	0	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chrX:27766740C>T	ENST00000451261.2	+	5	2127	c.1728C>T	c.(1726-1728)gaC>gaT	p.D576D		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	576										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCCTGTTTGACCAGTACATGC	0.498																																																	0								ENSG00000189186						141	100	112					X																	27766740		692	1591	2283	DCAF8L2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1728C>T	X.37:g.27766740C>T		Somatic	0	20	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	32.00	B2RXH9|J3KT06	Silent	SNP	22	0	0	15	51.61	16	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D576	ENST00000451261.2	37	c.1728	CCDS59162.1	X																																																																																			-	NULL		0.498	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	C	XM_293354	-		27766740	1	no_errors	ENST00000451261	ensembl	human	known	74_37	silent	SNP	0.031	T	T	27766740	C	T	27766740	2	4	20	1	0	0	0	0	0	0	0	1	4280	506	18	2		2	DCAF8L2	23	27766740	Silent	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09		27766740	127503820	58	1407											
DACH2	117154	genome.wustl.edu	37	chrX	85769347	85769347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatgcccgccttctgaCccatgcagtcccaggcctct	9	16	2	1			TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chrX:85769347C>T	ENST00000373125.4	+	3	593	c.593C>T	c.(592-594)aCc>aTc	p.T198I	DACH2_ENST00000508860.1_Missense_Mutation_p.T31I|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373131.1_Missense_Mutation_p.T185I	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	198					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CGCCTTCTGACCCATGCAGTC	0.478																																																	0								ENSG00000126733						54	45	48					X																	85769347		2203	4300	6503	DACH2	SO:0001583	missense	0			-	HGNC	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.593C>T	X.37:g.85769347C>T	ENSP00000362217:p.Thr198Ile	Somatic	0	18	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	5	80.77	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	21	0	0	6	83.33	30	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.T198I	ENST00000373125.4	37	c.593	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598320	0.46318	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.82711	-1.64;-1.62	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000003	T	0.70228	0.3200	N	0.08118	0	0.80722	D	1	B;B;B	0.22983	0.078;0.003;0.002	B;B;B	0.21546	0.035;0.003;0.001	T	0.67325	-0.5699	10	0.42905	T	0.14	.	17.2229	0.86962	0.0:1.0:0.0:0.0	.	64;185;198	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	I	198;185;198;31;31	ENSP00000362223:T185I;ENSP00000362217:T198I	ENSP00000345134:T198I	T	+	2	0	DACH2	85656003	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.223000	0.65283	1.988000	0.58038	0.506000	0.49869	ACC	-	NULL		0.478	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	protein_coding	OTTHUMT00000359266.1	C	NM_053281	-		85769347	1	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85769347	C	T	85769347	3	4	20	1	0	0	0	0	1	0	0	0	4223	507	18	2	603	2	DACH2	23	85769347	Missense_Mutation	SNP	C	TCGA-DX-A1KW-01A-22D-A24N-09	58002607	85769347	69501213	59	1408											
FGF13	2258	genome.wustl.edu	37	chrX	137717812	137717861	+	Splice_Site	DEL	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	-													atttgcactcaggtgtgaaaAgttcctgcaacaaaagtaaa					rs376608023|rs372583629|rs368967455		TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chrX:137717812_137717861delAGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	ENST00000315930.6	-	4	1064_1068	c.403_407delCATAGCTATAAACACTGAACTTTTGTTTATTTACTTTTGTTGCAGGAACT	c.(403-408)catagc>c	p.HS135fs	FGF13_ENST00000541469.1_Splice_Site_p.HS89fs|FGF13_ENST00000305414.4_Splice_Site_p.HS82fs|FGF13_ENST00000370603.3_Splice_Site_p.HS145fs|FGF13_ENST00000441825.2_Splice_Site_p.HS116fs	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	135	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGGTGTGAAAAGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATGAATTTCCTGT	0.356																																																	0								ENSG00000129682																																			FGF13	SO:0001630	splice_region_variant	0				HGNC	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.403-1CATAGCTATAAACACTGAACTTTTGTTTATTTACTTTTGTTGCAGGAACT>-	X.37:g.137717812_137717861delAGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG		Somatic					0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Frame_Shift_Del	DEL	15	0	0	18	0.00	0	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.E145fs	ENST00000315930.6	37	c.437_433	CCDS14665.1	X																																																																																			-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.356	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	protein_coding	OTTHUMT00000058534.2	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	NM_004114		Frame_Shift_Del	137717861	-1	no_errors	ENST00000370603	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-	-	137717861	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	-	137717812	8	5	20	1	0	1	0	1	0	0	1	0	5844	72	3	0	338	0	FGF13	23	137717812	Splice_Site	DEL	AGTTCCTGCAACAAAAGTAAATAAACAAAAGTTCAGTGTTTATAGCTATG	TCGA-DX-A1KW-01A-22D-A24N-09	51948465	137717812	17552748	60	1409	20	2									
FGF13	2258	genome.wustl.edu	37	chrX	137717813	137717813	+	Missense_Mutation	SNP	G	G	T													tttgcactcaggtgtgaaaaGttcctgcaacaaaagtaaat							TCGA-DX-A1KW-01A-22D-A24N-09	TCGA-DX-A1KW-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63db50d6-5ef2-44d0-9906-26eae74ecf44	02de8a64-bd6d-46da-9fc5-81d2a543e25b	g.chrX:137717813G>T	ENST00000315930.6	-	4	1067	c.406C>A	c.(406-408)Ctt>Att	p.L136I	FGF13_ENST00000541469.1_Missense_Mutation_p.L90I|FGF13_ENST00000305414.4_Missense_Mutation_p.L83I|FGF13_ENST00000370603.3_Missense_Mutation_p.L146I|FGF13_ENST00000441825.2_Missense_Mutation_p.L117I	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	136	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGTGTGAAAAGTTCCTGCAAC	0.353																																																	0								ENSG00000129682						49	43	45					X																	137717813		2203	4300	6503	FGF13	SO:0001583	missense	0			-	HGNC	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.406C>A	X.37:g.137717813G>T	ENSP00000322390:p.Leu136Ile	Somatic	0	21	0		0.552111637084181				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	41.67	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	15	0	0	4	77.78	14	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.L146I	ENST00000315930.6	37	c.436	CCDS14665.1	X	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475001	0.43942	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	6.17	6.17	0.99709	.	0.042496	0.85682	D	0.000000	T	0.69851	0.3157	N	0.13327	0.33	0.34665	D	0.723084	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.005;0.002;0.003	T	0.69109	-0.5232	10	0.33141	T	0.24	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	90;146;83;136	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	I	136;83;117;146;90;146;152	ENSP00000322390:L136I;ENSP00000303391:L83I;ENSP00000409276:L117I;ENSP00000359635:L146I;ENSP00000437903:L90I;ENSP00000396198:L146I;ENSP00000406916:L152I	ENSP00000303391:L83I	L	-	1	0	FGF13	137545479	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.476000	0.97823	2.618000	0.88619	0.600000	0.82982	CTT	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.353	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	protein_coding	OTTHUMT00000058534.2	G	NM_004114	-		137717813	-1	no_errors	ENST00000370603	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137717813	G	T	137717813	3	4	20	1	0	0	0	0	1	0	0	0	5844	1029	36	3	339	3	FGF13	23	137717813	Missense_Mutation	SNP	G	TCGA-DX-A1KW-01A-22D-A24N-09	1	137717813	17552747	61	1410	20	2									
CTPS	1503	genome.wustl.edu	37	chr1	41467863	41467863	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccaggaggatttggtgttCgaggaacagaaggaaaaatc	13	5	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr1:41467863C>T	ENST00000372621.4	+	11	1634	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	CTPS1_ENST00000372616.1_Nonsense_Mutation_p.R376*|CTPS1_ENST00000541520.1_Nonsense_Mutation_p.R145*	NM_001905.2	NP_001896.2			CTP synthase 1									p.R376*(2)		endometrium(3)|lung(10)	13						ATTTGGTGTTCGAGGAACAGA	0.453																																																	2	Substitution - Nonsense(2)	endometrium(2)						ENSG00000171793						218	206	211					1																	41467863		2203	4300	6503	CTPS1	SO:0001587	stop_gained	0			-	HGNC	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1126C>T	1.37:g.41467863C>T	ENSP00000361704:p.Arg376*	Somatic	0	133	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	125	17.22		Nonsense_Mutation	SNP							pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase	p.R376*	ENST00000372621.4	37	c.1126	CCDS459.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.366320	0.97507	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	.	.	.	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9196	0.58224	0.0:0.9217:0.0:0.0783	.	.	.	.	X	376;145;376	.	ENSP00000361699:R376X	R	+	1	2	CTPS	41240450	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.320000	0.59203	1.504000	0.48704	-0.145000	0.13849	CGA	-	pfam_GATASE,tigrfam_CTP_synthase		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	protein_coding	OTTHUMT00000015629.1	C	NM_001905	-		41467863	1	no_errors	ENST00000372616	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	41467863	C	T	41467863	4	4	21	1	0	0	0	0	0	1	0	0	4024	876	31	1	1164	1	CTPS	1	41467863	Nonsense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09		41467863	207782758	1	1411											
BCL2L15	440603	genome.wustl.edu	37	chr1	114429916	114429916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggttccggctggcaacctGcaatgttgggctcaagaagt	13	9	1	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr1:114429916G>T	ENST00000393316.3	-	1	253	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000471267.1_Missense_Mutation_p.Q28K|BCL2L15_ENST00000393320.3_Missense_Mutation_p.Q28K|BCL2L15_ENST00000488450.1_5'UTR	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	28					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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)		CTGGCAACCTGCAATGTTGGG	0.453																																																	0								ENSG00000188761						193	169	177					1																	114429916		2203	4300	6503	BCL2L15	SO:0001583	missense	0			-	HGNC		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 178"	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.82C>A	1.37:g.114429916G>T	ENSP00000376992:p.Gln28Lys	Somatic	0	36	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A0PJY6|A8K074|I6LA82	Missense_Mutation	SNP							NULL	p.Q28K	ENST00000393316.3	37	c.82	CCDS30809.1	1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580923	0.28180	.	.	ENSG00000188761	ENST00000393316;ENST00000393320;ENST00000471267	T;T	0.04317	3.65;3.65	5.35	-0.328	0.12690	.	1.651600	0.02767	N	0.119220	T	0.01222	0.0040	L	0.43152	1.355	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.45366	-0.9266	10	0.02654	T	1	.	9.5684	0.39414	0.0:0.1272:0.2948:0.5779	.	28;28	Q68DJ4;Q5TBC7	.;B2L15_HUMAN	K	28	ENSP00000376992:Q28K;ENSP00000417458:Q28K	ENSP00000376992:Q28K	Q	-	1	0	BCL2L15	114231439	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.569000	0.05902	-0.119000	0.11830	-0.169000	0.13324	CAG	-	NULL		0.453	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L15	protein_coding	OTTHUMT00000033026.2	G	NM_001010922	-		114429916	-1	no_errors	ENST00000393316	ensembl	human	known	74_37	missense	SNP	0.000	T	T	114429916	G	T	114429916	3	4	21	1	0	0	0	0	1	0	0	0	1373	1328	46	3	425	3	BCL2L15	1	114429916	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	72962053	114429916	134820705	2	1412											
AP4B1	10717	genome.wustl.edu	37	chr1	114438086	114438086	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagggagttcttgtaccctCtccttgttctcttcaggaat	8	11	5	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr1:114438086C>A	ENST00000369569.1	-	10	2101	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	AP4B1_ENST00000256658.4_Missense_Mutation_p.E607D|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.E439D|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	607					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		CTTGTACCCTCTCCTTGTTCT	0.418																																																	0								ENSG00000134262						68	71	70					1																	114438086		2203	4300	6503	AP4B1	SO:0001583	missense	0			-	HGNC	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1821G>T	1.37:g.114438086C>A	ENSP00000358582:p.Glu607Asp	Somatic	0	35	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.E607D	ENST00000369569.1	37	c.1821	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285192	0.05605	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.65364	-0.15;-0.13;-0.13	5.83	1.86	0.25419	.	0.299407	0.37393	N	0.002115	T	0.23806	0.0576	L	0.29908	0.895	0.39970	D	0.974776	B;B	0.28713	0.139;0.22	B;B	0.21360	0.034;0.033	T	0.04991	-1.0913	10	0.17832	T	0.49	.	8.5753	0.33595	0.0:0.6262:0.0:0.3738	.	439;607	B1ALD0;Q9Y6B7	.;AP4B1_HUMAN	D	439;607;607	ENSP00000358580:E439D;ENSP00000358582:E607D;ENSP00000256658:E607D	ENSP00000256658:E607D	E	-	3	2	AP4B1	114239609	0.050000	0.20438	0.707000	0.30419	0.120000	0.20174	0.101000	0.15251	0.791000	0.33826	0.563000	0.77884	GAG	-	pirsf_AP_complex_bsu_1_2_4		0.418	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	protein_coding	OTTHUMT00000033037.1	C	NM_006594	-		114438086	-1	no_errors	ENST00000256658	ensembl	human	known	74_37	missense	SNP	0.234	A	A	114438086	C	A	114438086	3	1	21	1	0	0	0	0	1	0	0	0	751	912	32	3	402	3	AP4B1	1	114438086	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	8170	114438086	134812535	3	1413											
FMO5	2330	genome.wustl.edu	37	chr1	146658726	146658726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggggtcagtgaaggccAgagacagcagattgggcctg	17	8	1	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr1:146658726A>G	ENST00000254090.4	-	9	1743	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_3'UTR|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	452						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AGTGAAGGCCAGAGACAGCAG	0.537																																																	0								ENSG00000131781						86	81	83					1																	146658726		2203	4300	6503	FMO5	SO:0001583	missense	0			-	HGNC	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1355T>C	1.37:g.146658726A>G	ENSP00000254090:p.Leu452Pro	Somatic	0	38	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP							pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.L452P	ENST00000254090.4	37	c.1355	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.096346	0.76870	.	.	ENSG00000131781	ENST00000254090	T	0.61742	0.08	5.8	4.67	0.58626	.	0.078821	0.52532	D	0.000071	T	0.76535	0.4001	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82372	-0.0490	10	0.87932	D	0	-2.7964	10.1529	0.42805	0.9212:0.0:0.0788:0.0	.	452	P49326	FMO5_HUMAN	P	452	ENSP00000254090:L452P	ENSP00000254090:L452P	L	-	2	0	FMO5	145125350	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	8.981000	0.93465	1.011000	0.39340	0.533000	0.62120	CTG	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2		0.537	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	protein_coding	OTTHUMT00000040373.2	A	NM_001461	-		146658726	-1	no_errors	ENST00000254090	ensembl	human	known	74_37	missense	SNP	0.986	G	G	146658726	A	G	146658726	3	3	21	1	0	0	0	0	1	0	0	0	5960	188	7	5	393	5	FMO5	1	146658726	Missense_Mutation	SNP	A	TCGA-DX-A1KX-01A-22D-A24N-09	32220640	146658726	102591895	4	1414											
FCRL3	115352	genome.wustl.edu	37	chr1	157668317	157668317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaatatgtgtctccctggGctagggaatgtgatatgctg	12	8	1	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr1:157668317G>T	ENST00000368184.3	-	4	446	c.155C>A	c.(154-156)gCc>gAc	p.A52D	FCRL3_ENST00000473231.1_5'Flank|FCRL3_ENST00000368186.5_Missense_Mutation_p.A52D|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	52	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTCTCCCTGGGCTAGGGAATG	0.443																																																	0								ENSG00000160856						179	160	166					1																	157668317		2203	4300	6503	FCRL3	SO:0001583	missense	0			-	HGNC	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.155C>A	1.37:g.157668317G>T	ENSP00000357167:p.Ala52Asp	Somatic	0	39	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A52D	ENST00000368184.3	37	c.155	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174368	0.38413	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12569	2.67;2.67	5.46	-6.63	0.01807	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.069620	0.07457	N	0.900024	T	0.09949	0.0244	M	0.68952	2.095	0.09310	N	1	D;D	0.59357	0.985;0.981	P;P	0.61477	0.889;0.823	T	0.22243	-1.0222	10	0.56958	D	0.05	.	0.1203	0.00064	0.2717:0.1892:0.2516:0.2875	.	52;52	Q96P31;Q96P31-6	FCRL3_HUMAN;.	D	52	ENSP00000357169:A52D;ENSP00000357167:A52D	ENSP00000292392:A52D	A	-	2	0	FCRL3	155934941	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.220000	0.17660	-0.558000	0.06118	-0.282000	0.10007	GCC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.443	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	protein_coding	OTTHUMT00000051419.2	G	NM_052939	-		157668317	-1	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	SNP	0.000	T	T	157668317	G	T	157668317	3	4	21	1	0	0	0	0	1	0	0	0	5798	1203	42	3	2097	3	FCRL3	1	157668317	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	11009591	157668317	91582304	5	1415											
C1orf107	27042	genome.wustl.edu	37	chr1	210010164	210010164	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtggcctattctgggccagCttttcttttcctctaagttt	8	10	3	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr1:210010164C>G	ENST00000491415.2	+	6	727	c.670C>G	c.(670-672)Ctt>Gtt	p.L224V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	224					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCTGGGCCAGCTTTTCTTTTC	0.378																																																	0								ENSG00000117597						74	83	80					1																	210010164		2196	4299	6495	DIEXF	SO:0001583	missense	0			-	HGNC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.670C>G	1.37:g.210010164C>G	ENSP00000419005:p.Leu224Val	Somatic	0	59	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	13	65.79	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP							pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.L224V	ENST00000491415.2	37	c.670	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849411	0.32699	.	.	ENSG00000117597	ENST00000491415	T	0.48201	0.82	5.91	1.74	0.24563	.	0.254499	0.39834	N	0.001245	T	0.40570	0.1122	M	0.66939	2.045	0.49798	D	0.99982	B	0.10296	0.003	B	0.09377	0.004	T	0.16660	-1.0395	10	0.21540	T	0.41	-4.4867	8.5232	0.33289	0.11:0.4026:0.427:0.0603	.	224	Q68CQ4	DIEXF_HUMAN	V	224	ENSP00000419005:L224V	ENSP00000419005:L224V	L	+	1	0	DIEXF	208076787	0.733000	0.28132	0.998000	0.56505	0.969000	0.65631	-0.025000	0.12413	0.066000	0.16515	0.655000	0.94253	CTT	-	NULL		0.378	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	C	NM_014388	-		210010164	1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	SNP	0.932	G	G	210010164	C	G	210010164	3	3	21	1	0	0	0	0	1	0	0	0	1983	797	28	4	692	4	C1orf107	1	210010164	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	52341847	210010164	39240457	6	1416											
SERTAD2	9792	genome.wustl.edu	37	chr2	64863598	64863598	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacgtgtcatcgtcgtcctcGagcagtgaggccggggtgag	16	10	1	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:64863598G>C	ENST00000313349.3	-	2	705	c.408C>G	c.(406-408)ctC>ctG	p.L136L	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	136					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CGTCGTCCTCGAGCAGTGAGG	0.662																																																	0								ENSG00000179833						53	56	55					2																	64863598		2203	4300	6503	SERTAD2	SO:0001819	synonymous_variant	0			-	HGNC	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.408C>G	2.37:g.64863598G>C		Somatic	0	43	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q53TS2	Silent	SNP							pfam_SERTA,pfscan_SERTA	p.L136	ENST00000313349.3	37	c.408	CCDS33210.1	2																																																																																			-	NULL		0.662	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD2	protein_coding	OTTHUMT00000327322.2	G	NM_014755	-		64863598	-1	no_errors	ENST00000313349	ensembl	human	known	74_37	silent	SNP	0.997	C	C	64863598	G	C	64863598	2	2	21	1	0	0	0	0	0	0	0	1	14129	1045	37	4		4	SERTAD2	2	64863598	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		64863598	178335775	7	1417											
DYSF	8291	genome.wustl.edu	37	chr2	71838463	71838463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcaagccagcgctccagcGtaccgccatcgaggtgagcc	11	16	1	1	rs61742872	byFrequency	TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:71838463G>C	ENST00000258104.3	+	37	4269	c.3992G>C	c.(3991-3993)cGt>cCt	p.R1331P	DYSF_ENST00000413539.2_Missense_Mutation_p.R1362P|DYSF_ENST00000429174.2_Missense_Mutation_p.R1331P|DYSF_ENST00000410041.1_Missense_Mutation_p.R1349P|DYSF_ENST00000409762.1_Missense_Mutation_p.R1348P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R1332P|DYSF_ENST00000409744.1_Missense_Mutation_p.R1318P|DYSF_ENST00000394120.2_Missense_Mutation_p.R1332P|DYSF_ENST00000409582.3_Missense_Mutation_p.R1348P|DYSF_ENST00000409651.1_Missense_Mutation_p.R1363P|DYSF_ENST00000410020.3_Missense_Mutation_p.R1349P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1331			R -> L (in dbSNP:rs61742872). {ECO:0000269|PubMed:14678801, ECO:0000269|PubMed:16010686}.		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						GCGCTCCAGCGTACCGCCATC	0.667																																																	0								ENSG00000135636						54	48	50					2																	71838463		2203	4300	6503	DYSF	SO:0001583	missense	0			-	HGNC	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.3992G>C	2.37:g.71838463G>C	ENSP00000258104:p.Arg1331Pro	Somatic	0	36	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R1362P	ENST00000258104.3	37	c.4085	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349135	0.82132	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.66	4.66	0.58398	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	M	0.84585	2.705	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0;0.968;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;P;D;D;D;D	0.97110	0.947;1.0;1.0;1.0;1.0;0.98;0.971;0.971;0.987;1.0;0.907;0.956;1.0;0.999;0.999	D	0.91583	0.5280	10	0.62326	D	0.03	-12.3962	15.4144	0.74952	0.0:0.0:1.0:0.0	.	74;1363;1349;1332;1318;1349;1318;1348;1317;1362;1348;1331;1317;1332;1331	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	P	1362;1348;1348;1331;1331;1363;1332;1318;1332;1349;1349	ENSP00000407046:R1362P;ENSP00000387137:R1348P;ENSP00000386547:R1348P;ENSP00000398305:R1331P;ENSP00000258104:R1331P;ENSP00000386683:R1363P;ENSP00000377678:R1332P;ENSP00000386285:R1318P;ENSP00000386512:R1332P;ENSP00000386881:R1349P;ENSP00000386617:R1349P	ENSP00000258104:R1331P	R	+	2	0	DYSF	71691971	1.000000	0.71417	0.912000	0.35992	0.911000	0.54048	3.882000	0.56160	2.324000	0.78689	0.561000	0.74099	CGT	-	superfamily_C2_dom		0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	G	NM_003494	-		71838463	1	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71838463	G	C	71838463	3	2	21	1	0	0	0	0	1	0	0	0	4861	1145	40	4	4330	4	DYSF	2	71838463	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	6974865	71838463	171360910	8	1418											
GLI2	2736	genome.wustl.edu	37	chr2	121745876	121745876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagctgtccgcgagcgagGtgaccatgctgagccagctg	16	12	0	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:121745876G>A	ENST00000452319.1	+	14	2446	c.2386G>A	c.(2386-2388)Gtg>Atg	p.V796M	GLI2_ENST00000314490.11_Missense_Mutation_p.V468M|GLI2_ENST00000361492.4_Missense_Mutation_p.V796M					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCGAGCGAGGTGACCATGCT	0.711																																																	0								ENSG00000074047						5	7	7					2																	121745876		2109	4163	6272	GLI2	SO:0001583	missense	0			-	HGNC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2386G>A	2.37:g.121745876G>A	ENSP00000390436:p.Val796Met	Somatic	0	14	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	6	73.91		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V796M	ENST00000452319.1	37	c.2386	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557368	0.45590	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.90900	-2.75;-2.75;-2.75	4.58	4.58	0.56647	.	0.280979	0.34314	N	0.004070	D	0.92945	0.7755	L	0.45051	1.395	0.33554	D	0.596484	P;P;P;D	0.76494	0.826;0.802;0.753;0.999	B;B;B;D	0.71656	0.292;0.337;0.381;0.974	D	0.94471	0.7685	10	0.42905	T	0.14	.	17.5869	0.87984	0.0:0.0:1.0:0.0	.	796;451;451;468	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	M	796;796;468	ENSP00000390436:V796M;ENSP00000354586:V796M;ENSP00000312694:V468M	ENSP00000312694:V468M	V	+	1	0	GLI2	121462346	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.761000	0.47589	2.366000	0.80165	0.561000	0.74099	GTG	-	NULL		0.711	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	protein_coding	OTTHUMT00000332293.3	G	NM_005270	-		121745876	1	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121745876	G	A	121745876	3	1	21	1	0	0	0	0	1	0	0	0	6440	1261	44	2	2436	2	GLI2	2	121745876	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	49907413	121745876	121453497	9	1419											
UPP2	151531	genome.wustl.edu	37	chr2	158977927	158977927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacattgcagggattgCaccagggactgttgtaataa	10	9	0	0	rs372476628		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:158977927C>T	ENST00000005756.4	+	5	655	c.461C>T	c.(460-462)gCa>gTa	p.A154V	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000605860.1_Missense_Mutation_p.A211V|UPP2_ENST00000409859.4_Missense_Mutation_p.A211V	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	154					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GCAGGGATTGCACCAGGGACT	0.383																																																	0								ENSG00000007001	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	199	205	203		461,632	0	0	2		203	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	UPP2	NM_173355.3,NM_001135098.1	64,64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	154/318,211/375	158977927	1,13003	2203	4299	6502	UPP2	SO:0001583	missense	0			-	HGNC	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.461C>T	2.37:g.158977927C>T	ENSP00000005756:p.Ala154Val	Somatic	0	70	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.71	B3KV87	Missense_Mutation	SNP							pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.A211V	ENST00000005756.4	37	c.632	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	C	8.504	0.864880	0.17250	0.0	1.16E-4	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.87729	-2.29;-2.29	5.66	-0.043	0.13861	Nucleoside phosphorylase domain (1);	0.797470	0.11538	N	0.554006	T	0.81442	0.4823	L	0.58101	1.795	0.29963	N	0.819192	B	0.25206	0.12	B	0.17433	0.018	T	0.73591	-0.3934	10	0.72032	D	0.01	.	5.2068	0.15295	0.3388:0.4249:0.0:0.2363	.	154	O95045	UPP2_HUMAN	V	211;154	ENSP00000387230:A211V;ENSP00000005756:A154V	ENSP00000005756:A154V	A	+	2	0	UPP2	158686173	0.579000	0.26725	0.005000	0.12908	0.259000	0.26198	1.205000	0.32308	0.058000	0.16222	-0.140000	0.14226	GCA	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk		0.383	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	protein_coding	OTTHUMT00000254929.2	C	NM_173355	-		158977927	1	no_errors	ENST00000409859	ensembl	human	known	74_37	missense	SNP	0.233	T	T	158977927	C	T	158977927	3	4	21	1	0	0	0	0	1	0	0	0	17020	710	25	2	658	2	UPP2	2	158977927	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	37232051	158977927	84221446	10	1420											
LRP2	4036	genome.wustl.edu	37	chr2	170134297	170134297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttcaatgtaatcaaacCgagagtcaacccagtaaaca	6	10	3	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:170134297C>T	ENST00000263816.3	-	13	2015	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	577					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTAATCAAACCGAGAGTCAAC	0.398																																																	0								ENSG00000081479						125	122	123					2																	170134297		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1730G>A	2.37:g.170134297C>T	ENSP00000263816:p.Arg577Gln	Somatic	0	60	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R577Q	ENST00000263816.3	37	c.1730	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643757	0.67244	.	.	ENSG00000081479	ENST00000263816	D	0.93547	-3.24	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93659	0.6980	10	0.25106	T	0.35	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	577	P98164	LRP2_HUMAN	Q	577	ENSP00000263816:R577Q	ENSP00000263816:R577Q	R	-	2	0	LRP2	169842543	1.000000	0.71417	0.166000	0.22797	0.358000	0.29455	5.886000	0.69743	2.680000	0.91292	0.555000	0.69702	CGG	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-		170134297	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170134297	C	T	170134297	3	4	21	1	0	0	0	0	1	0	0	0	8958	652	23	1	12505	1	LRP2	2	170134297	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	11156370	170134297	73065076	11	1421											
STK17B	9262	genome.wustl.edu	37	chr2	197021263	197021263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagcacagcaatctcgtGtaaaatttctgctcgacaat	6	10	3	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:197021263G>T	ENST00000263955.4	-	3	521	c.235C>A	c.(235-237)Cac>Aac	p.H79N	STK17B_ENST00000409228.1_Missense_Mutation_p.H79N|RP11-347P5.1_ENST00000606818.1_RNA	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GCAATCTCGTGTAAAATTTCT	0.348																																																	0								ENSG00000081320						96	89	92					2																	197021263		2203	4300	6503	STK17B	SO:0001583	missense	0			-	HGNC	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.235C>A	2.37:g.197021263G>T	ENSP00000263955:p.His79Asn	Somatic	0	45	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H79N	ENST00000263955.4	37	c.235	CCDS2315.1	2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085871	0.55861	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.47177	0.85;0.85	5.1	5.1	0.69264	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	0.51477	D	0.000085	T	0.43831	0.1265	N	0.04787	-0.16	0.58432	D	0.999997	P	0.49862	0.929	P	0.55011	0.766	T	0.51529	-0.8694	10	0.42905	T	0.14	.	18.7644	0.91866	0.0:0.0:1.0:0.0	.	79	O94768	ST17B_HUMAN	N	79	ENSP00000263955:H79N;ENSP00000386853:H79N	ENSP00000263955:H79N	H	-	1	0	STK17B	196729508	1.000000	0.71417	0.913000	0.36048	0.552000	0.35366	5.979000	0.70508	2.658000	0.90341	0.650000	0.86243	CAC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.348	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	protein_coding	OTTHUMT00000256092.2	G		-		197021263	-1	no_errors	ENST00000263955	ensembl	human	known	74_37	missense	SNP	0.993	T	T	197021263	G	T	197021263	3	4	21	1	0	0	0	0	1	0	0	0	15298	1377	48	3	907	3	STK17B	2	197021263	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	26886966	197021263	46178110	12	1422											
GPR55	9290	genome.wustl.edu	37	chr2	231775043	231775043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagtcctgggtgtggtctCggcggcccagcaggatgtgg	17	12	1	0	rs146701433		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:231775043C>T	ENST00000392040.1	-	2	827	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.R212Q	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	212					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGTGTGGTCTCGGCGGCCCAG	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		19539	0		0	False		,,,				2504	0																0								ENSG00000135898	C	GLN/ARG	0,4406		0,0,2203	71	77	75		635	0.1	0	2	dbSNP_134	75	3,8597	3.0+/-9.4	0,3,4297	no	missense	GPR55	NM_005683.3	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	212/320	231775043	3,13003	2203	4300	6503	GPR55	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.635G>A	2.37:g.231775043C>T	ENSP00000375894:p.Arg212Gln	Somatic	0	33	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	Q8N580	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R212Q	ENST00000392040.1	37	c.635	CCDS2480.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.971	1.225516	0.22457	0.0	3.49E-4	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.37915	1.17;1.17;1.17	5.29	0.0827	0.14430	GPCR, rhodopsin-like superfamily (1);	1.075400	0.07380	N	0.887346	T	0.22627	0.0546	L	0.33485	1.01	0.09310	N	1	B	0.25169	0.119	B	0.13407	0.009	T	0.24512	-1.0158	10	0.19590	T	0.45	-6.82	5.1205	0.14858	0.0:0.4474:0.3056:0.247	.	212	Q9Y2T6	GPR55_HUMAN	Q	212	ENSP00000375894:R212Q;ENSP00000375893:R212Q;ENSP00000412768:R212Q	ENSP00000375893:R212Q	R	-	2	0	GPR55	231483287	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	-1.232000	0.02936	0.449000	0.26747	0.561000	0.74099	CGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.622	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	protein_coding	OTTHUMT00000332618.1	C	NM_005683	rs146701433		231775043	-1	no_errors	ENST00000392039	ensembl	human	known	74_37	missense	SNP	0.000	T	T	231775043	C	T	231775043	3	4	21	1	0	0	0	0	1	0	0	0	6701	884	31	1	328	1	GPR55	2	231775043	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	34753780	231775043	11424330	13	1423											
SAG	6295	genome.wustl.edu	37	chr2	234229408	234229408	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggccgcgagcacccccaCaaaactgcaagagagcctgc	13	15	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:234229408C>A	ENST00000409110.1	+	5	544	c.314C>A	c.(313-315)aCa>aAa	p.T105K	SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	105					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCACCCCCACAAAACTGCAA	0.612																																																	0								ENSG00000130561						31	33	32					2																	234229408		1921	4127	6048	SAG	SO:0001583	missense	0			-	HGNC		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.314C>A	2.37:g.234229408C>A	ENSP00000386444:p.Thr105Lys	Somatic	0	39	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	80	12.09	A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP							pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.T105K	ENST00000409110.1	37	c.314	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194688	0.58017	.	.	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110	T;T	0.22743	1.94;1.94	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.048719	0.85682	D	0.000000	T	0.35624	0.0938	M	0.90082	3.085	0.80722	D	1	D	0.54047	0.964	B	0.40741	0.339	T	0.58662	-0.7597	10	0.87932	D	0	-20.9552	17.7003	0.88292	0.0:1.0:0.0:0.0	.	105	P10523	ARRS_HUMAN	K	105	ENSP00000408937:T105K;ENSP00000386444:T105K	ENSP00000252857:T105K	T	+	2	0	SAG	233894147	0.866000	0.29940	0.091000	0.20842	0.525000	0.34531	5.108000	0.64609	2.474000	0.83562	0.655000	0.94253	ACA	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.612	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	protein_coding	OTTHUMT00000330126.1	C	NM_000541	-		234229408	1	no_errors	ENST00000409110	ensembl	human	known	74_37	missense	SNP	0.917	A	A	234229408	C	A	234229408	3	1	21	1	0	0	0	0	1	0	0	0	13816	478	17	3	328	3	SAG	2	234229408	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	2454365	234229408	8969965	14	1424											
RAB17	64284	genome.wustl.edu	37	chr2	238494745	238494745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaccagcttgaacacaCggggctggctgggggcagcc	17	11	0	2	rs371995454		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr2:238494745C>T	ENST00000264601.3	-	2	682	c.53G>A	c.(52-54)cGt>cAt	p.R18H	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000538644.1_De_novo_Start_InFrame|RAB17_ENST00000409822.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	18					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)			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)		CTTGAACACACGGGGCTGGCT	0.597																																					Colon(56;987 1029 6466 13943 27336)												0								ENSG00000124839	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	52	54	54		53	-9.4	0	2		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAB17	NM_022449.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	18/213	238494745	2,13004	2203	4300	6503	RAB17	SO:0001583	missense	0			-	HGNC	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.53G>A	2.37:g.238494745C>T	ENSP00000264601:p.Arg18His	Somatic	0	40	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.82	Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R18H	ENST00000264601.3	37	c.53	CCDS2520.1	2	.	.	.	.	.	.	.	.	.	.	C	8.789	0.930036	0.18131	2.27E-4	1.16E-4	ENSG00000124839	ENST00000264601;ENST00000411462	T;T	0.80304	-1.36;-1.36	4.69	-9.38	0.00623	.	2.308260	0.01793	N	0.032400	T	0.53965	0.1829	N	0.11064	0.09	0.09310	N	0.999994	B	0.12013	0.005	B	0.04013	0.001	T	0.50491	-0.8822	10	0.21014	T	0.42	-7.2837	0.947	0.01368	0.2981:0.2465:0.2649:0.1905	.	18	Q9H0T7	RAB17_HUMAN	H	18	ENSP00000264601:R18H;ENSP00000400240:R18H	ENSP00000264601:R18H	R	-	2	0	RAB17	238159484	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.960000	0.03849	-2.167000	0.00779	-0.282000	0.10007	CGT	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras		0.597	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB17	protein_coding	OTTHUMT00000257084.2	C		-		238494745	-1	no_errors	ENST00000264601	ensembl	human	known	74_37	missense	SNP	0.000	T	T	238494745	C	T	238494745	3	4	21	1	0	0	0	0	1	0	0	0	12910	536	19	1	605	1	RAB17	2	238494745	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	4265337	238494745	4704628	15	1425											
CD200R1L	344807	genome.wustl.edu	37	chr3	112545911	112545911	+	Frame_Shift_Del	DEL	T	T	-													ggcaggtcacagtagacttgTggccctcccaggggcatgta					rs58161637|rs200703227	byFrequency	TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr3:112545911delT	ENST00000398214.1	-	4	833	c.608delA	c.(607-609)cacfs	p.H203fs	CD200R1L_ENST00000448932.1_Frame_Shift_Del_p.H182fs|CD200R1L_ENST00000488794.1_Frame_Shift_Del_p.H182fs	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	203	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.H203P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AGTAGACTTGTGGCCCTCCCA	0.493													T|T|-|deletion	841	0.167931	0.0953	0.2133	5008	,	,		17526	0.0625		0.3231	False		,,,				2504	0.183																1	Substitution - Missense(1)	lung(1)						ENSG00000206531		,	560,3704		37,486,1609	55	49	51		,	1.4	0	3	dbSNP_129	64	2613,5641		429,1755,1943	yes	frameshift,frameshift	CD200R1L	NM_001199215.1,NM_001008784.2	,	466,2241,3552	A1A1,A1R,RR		31.6574,13.1332,25.3475	,	,	112545911	3173,9345	2175	4016	6191	CD200R1L	SO:0001589	frameshift_variant	0				HGNC	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.608delA	3.37:g.112545911delT	ENSP00000381272:p.His203fs	Somatic	0	65	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q6WHB7	Frame_Shift_Del	DEL							pfam_CD80_C2-set,pfscan_Ig-like_dom	p.H203fs	ENST00000398214.1	37	c.608	CCDS43131.1	3																																																																																			-	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.493	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	protein_coding	OTTHUMT00000354365.1	T	NM_001008784			112545911	-1	no_errors	ENST00000398214	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	112545911	T	-	112545911	7	5	21	1	0	1	0	1	0	0	0	0	2984	1696	59	0	219	0	CD200R1L	3	112545911	Frame_Shift_Del	DEL	T	TCGA-DX-A1KX-01A-22D-A24N-09		112545911	85476519	16	1426											
TF	7018	genome.wustl.edu	37	chr3	133494415	133494415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcacgctgtggtcacacGgaaagataaggaagcttgcg	13	8	2	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr3:133494415G>A	ENST00000402696.3	+	15	2311	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	TF_ENST00000264998.3_Missense_Mutation_p.R482Q	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	609	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GTGGTCACACGGAAAGATAAG	0.517																																																	0								ENSG00000091513						162	156	158					3																	133494415		2203	4300	6503	TF	SO:0001583	missense	0			-	HGNC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1826G>A	3.37:g.133494415G>A	ENSP00000385834:p.Arg609Gln	Somatic	0	51	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP							pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.R609Q	ENST00000402696.3	37	c.1826	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977633	0.53720	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.52983	0.64;0.64	5.01	5.01	0.66863	.	0.122605	0.56097	D	0.000024	T	0.72317	0.3445	H	0.94734	3.575	0.29048	N	0.884657	D;D	0.69078	0.997;0.997	P;P	0.59825	0.864;0.864	T	0.74904	-0.3505	10	0.72032	D	0.01	-31.5624	12.3502	0.55144	0.0:0.0:0.8311:0.1689	.	335;609	B4DHZ6;P02787	.;TRFE_HUMAN	Q	609;482	ENSP00000385834:R609Q;ENSP00000264998:R482Q	ENSP00000264998:R482Q	R	+	2	0	TF	134977105	0.979000	0.34478	0.090000	0.20809	0.025000	0.11179	6.284000	0.72652	2.604000	0.88044	0.561000	0.74099	CGG	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.517	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	protein_coding	OTTHUMT00000317775.1	G	NM_001063	-		133494415	1	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	SNP	0.225	A	A	133494415	G	A	133494415	3	1	21	1	0	0	0	0	1	0	0	0	15792	1116	39	1	1884	1	TF	3	133494415	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	20948504	133494415	64528015	17	1427											
PDE6B	5158	genome.wustl.edu	37	chr4	629751	629751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaactgcgagacgcgccGcggccaggtacccacacgct	11	18	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr4:629751G>A	ENST00000496514.1	+	3	725	c.704G>A	c.(703-705)cGc>cAc	p.R235H	PDE6B_ENST00000255622.6_Missense_Mutation_p.R235H			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	235					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)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GAGACGCGCCGCGGCCAGGTA	0.597																																					GBM(71;463 1194 9848 25922 46834)												0								ENSG00000133256						90	84	86					4																	629751		2203	4300	6503	PDE6B	SO:0001583	missense	0			-	HGNC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.704G>A	4.37:g.629751G>A	ENSP00000420295:p.Arg235His	Somatic	0	28	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.R235H	ENST00000496514.1	37	c.704	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782663	0.70222	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.71341	-0.56;-0.56	4.25	4.25	0.50352	.	0.055129	0.64402	D	0.000001	D	0.84106	0.5399	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.953;0.979	D	0.87086	0.2169	10	0.87932	D	0	.	14.4892	0.67639	0.0:0.0:1.0:0.0	.	235;235	P35913;P35913-2	PDE6B_HUMAN;.	H	235	ENSP00000255622:R235H;ENSP00000420295:R235H	ENSP00000255622:R235H	R	+	2	0	PDE6B	619751	1.000000	0.71417	0.995000	0.50966	0.760000	0.43138	3.797000	0.55514	2.085000	0.62840	0.491000	0.48974	CGC	-	NULL		0.597	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	protein_coding	OTTHUMT00000358109.1	G	NM_000283	-		629751	1	no_errors	ENST00000496514	ensembl	human	known	74_37	missense	SNP	0.997	A	A	629751	G	A	629751	3	1	21	1	0	0	0	0	1	0	0	0	11648	1087	38	1	714	1	PDE6B	4	629751	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		629751	190524525	18	1428											
ADH7	131	genome.wustl.edu	37	chr4	100349113	100349113	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttgcatgtaaatctggtGgtgccatcagccagtactcc	9	13	2	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr4:100349113G>T	ENST00000209665.4	-	5	657	c.417C>A	c.(415-417)acC>acA	p.T139T	ADH7_ENST00000476959.1_Silent_p.T147T|ADH7_ENST00000482593.1_Silent_p.T70T|ADH7_ENST00000437033.2_Silent_p.T127T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	139					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TAAATCTGGTGGTGCCATCAG	0.383																																																	0								ENSG00000196344						257	197	217					4																	100349113		2203	4300	6503	ADH7	SO:0001819	synonymous_variant	0			-	HGNC	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.417C>A	4.37:g.100349113G>T		Somatic	0	42	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.T139	ENST00000209665.4	37	c.417	CCDS34034.1	4																																																																																			-	pfam_ADH_GroES-like,superfamily_GroES-like		0.383	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	protein_coding		G	NM_000673	-		100349113	-1	no_errors	ENST00000209665	ensembl	human	known	74_37	silent	SNP	0.141	T	T	100349113	G	T	100349113	2	4	21	1	0	0	0	0	0	0	0	1	313	1335	47	3		3	ADH7	4	100349113	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	99719362	100349113	90805163	19	1429											
DDX60	55601	genome.wustl.edu	37	chr4	169196597	169196597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagttggaaccgagctgGcccaatgccaactgaatatt	10	10	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr4:169196597G>T	ENST00000393743.3	-	16	2494	c.2203C>A	c.(2203-2205)Cca>Aca	p.P735T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	735					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)			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)		AACCGAGCTGGCCCAATGCCA	0.388																																																	0								ENSG00000137628						100	97	98					4																	169196597		2203	4300	6503	DDX60	SO:0001583	missense	0			-	HGNC	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.2203C>A	4.37:g.169196597G>T	ENSP00000377344:p.Pro735Thr	Somatic	0	44	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	93	16.22	Q6PK35|Q9NVE3	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P735T	ENST00000393743.3	37	c.2203	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122182	0.37436	.	.	ENSG00000137628	ENST00000393743	T	0.20200	2.09	5.37	4.47	0.54385	.	0.094999	0.47093	D	0.000260	T	0.16085	0.0387	N	0.19112	0.55	0.31686	N	0.642464	P	0.47677	0.899	P	0.46110	0.504	T	0.03493	-1.1031	10	0.56958	D	0.05	.	8.7821	0.34798	0.0788:0.2755:0.6457:0.0	.	735	Q8IY21	DDX60_HUMAN	T	735	ENSP00000377344:P735T	ENSP00000377344:P735T	P	-	1	0	DDX60	169433172	0.973000	0.33851	0.271000	0.24616	0.326000	0.28443	0.608000	0.24223	2.667000	0.90743	0.563000	0.77884	CCA	-	NULL		0.388	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	protein_coding	OTTHUMT00000364622.1	G	NM_017631	-		169196597	-1	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	SNP	0.971	T	T	169196597	G	T	169196597	3	4	21	1	0	0	0	0	1	0	0	0	4380	1203	42	3	3027	3	DDX60	4	169196597	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	68847484	169196597	21957679	20	1430											
PRDM9	56979	genome.wustl.edu	37	chr5	23523455	23523455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagataaatcctgggCcaactggatgaggtaaggcc	13	7	0	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr5:23523455C>G	ENST00000296682.3	+	9	1120	c.938C>G	c.(937-939)gCc>gGc	p.A313G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	313	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						AAATCCTGGGCCAACTGGATG	0.433										HNSCC(3;0.000094)																																							0								ENSG00000164256						126	121	123					5																	23523455		2203	4300	6503	PRDM9	SO:0001583	missense	0			-	HGNC	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.938C>G	5.37:g.23523455C>G	ENSP00000296682:p.Ala313Gly	Somatic	0	59	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	98	16.95	B4DX22|Q27Q50	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.A313G	ENST00000296682.3	37	c.938	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377324	0.24944	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.68479	-0.33	3.72	2.82	0.32997	SET domain (2);	0.452222	0.16407	N	0.215768	T	0.48732	0.1516	N	0.20807	0.61	0.35623	D	0.809613	P	0.37525	0.598	B	0.34824	0.19	T	0.59085	-0.7520	10	0.72032	D	0.01	-14.9603	9.7078	0.40227	0.0:0.7858:0.2141:0.0	.	313	Q9NQV7	PRDM9_HUMAN	G	313;107	ENSP00000296682:A313G	ENSP00000253473:A107G	A	+	2	0	PRDM9	23559212	0.998000	0.40836	0.953000	0.39169	0.211000	0.24417	1.363000	0.34159	0.824000	0.34613	-0.256000	0.11100	GCC	-	pfscan_SET_dom		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	protein_coding	OTTHUMT00000366375.1	C	NM_020227	-		23523455	1	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	SNP	1.000	G	G	23523455	C	G	23523455	3	3	21	1	0	0	0	0	1	0	0	0	12468	739	26	4	968	4	PRDM9	5	23523455	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09		23523455	157391805	21	1431											
PRKAA1	5562	genome.wustl.edu	37	chr5	40765100	40765100	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaatcaggtgggcttgtCgccaaatagaaatctttggc	11	7	2	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr5:40765100C>T	ENST00000397128.2	-	7	1070	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	PRKAA1_ENST00000354209.3_Silent_p.A369A	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	354	AIS.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[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)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GTGGGCTTGTCGCCAAATAGA	0.438																																																	0								ENSG00000132356						96	95	95					5																	40765100		1971	4149	6120	PRKAA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1062G>A	5.37:g.40765100C>T		Somatic	0	50	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	61	33.70	A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A369	ENST00000397128.2	37	c.1107	CCDS3932.2	5																																																																																			-	NULL		0.438	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	protein_coding	OTTHUMT00000253833.2	C	NM_006251	-		40765100	-1	no_errors	ENST00000354209	ensembl	human	known	74_37	silent	SNP	0.250	T	T	40765100	C	T	40765100	2	4	21	1	0	0	0	0	0	0	0	1	12498	871	31	1		1	PRKAA1	5	40765100	Silent	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	17241645	40765100	140150160	22	1432											
GPR98	84059	genome.wustl.edu	37	chr5	90077371	90077371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaaggcatcattgaatttGacccaaagtatactgccttc	7	10	1	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr5:90077371G>C	ENST00000405460.2	+	65	13303	c.13207G>C	c.(13207-13209)Gac>Cac	p.D4403H	GPR98_ENST00000425867.2_Missense_Mutation_p.D64H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4403	Calx-beta 30. {ECO:0000255}.				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)			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)		CATTGAATTTGACCCAAAGTA	0.363																																																	0								ENSG00000164199						60	56	57					5																	90077371		1872	4102	5974	GPR98	SO:0001583	missense	0			-	HGNC	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.13207G>C	5.37:g.90077371G>C	ENSP00000384582:p.Asp4403His	Somatic	0	39	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D4403H	ENST00000405460.2	37	c.13207	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628446	0.67015	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32515	1.45;1.45	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.249082	0.43110	D	0.000602	T	0.62085	0.2399	M	0.84846	2.72	0.32131	N	0.586817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.979;0.988	T	0.67757	-0.5588	10	0.42905	T	0.14	.	19.649	0.95793	0.0:0.0:1.0:0.0	.	64;4403;64	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	H	4403;4403;64	ENSP00000384582:D4403H;ENSP00000392618:D64H	ENSP00000296619:D4403H	D	+	1	0	GPR98	90113127	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.453000	0.52978	2.740000	0.93945	0.650000	0.86243	GAC	-	pfam_Calx_beta,smart_Calx_beta		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		90077371	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90077371	G	C	90077371	3	2	21	1	0	0	0	0	1	0	0	0	6723	1290	45	4	13465	4	GPR98	5	90077371	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	49312271	90077371	90837889	23	1433											
PCDHB3	56132	genome.wustl.edu	37	chr5	140481898	140481898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	12	14	0	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr5:140481898C>T	ENST00000231130.2	+	1	1665	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	555	Cadherin 5. {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)			TGGACGCCAACGACAACTCGC	0.711																																																	0								ENSG00000113205						15	17	17					5																	140481898		2149	4225	6374	PCDHB3	SO:0001819	synonymous_variant	0			-	HGNC	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.1665C>T	5.37:g.140481898C>T		Somatic	0	123	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	125	13.79	B2R8P2	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N555	ENST00000231130.2	37	c.1665	CCDS4245.1	5																																																																																			-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	C	NM_018937	-		140481898	1	no_errors	ENST00000231130	ensembl	human	known	74_37	silent	SNP	1.000	T	T	140481898	C	T	140481898	2	4	21	1	0	0	0	0	0	0	0	1	11545	535	19	1		1	PCDHB3	5	140481898	Silent	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	50404527	140481898	40433362	24	1434											
ARAP3	64411	genome.wustl.edu	37	chr5	141036319	141036319	+	Frame_Shift_Del	DEL	T	T	-													ccagcttgggccagggggacTtttttcaagagcagggaagc							TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr5:141036319delT	ENST00000239440.4	-	26	3686	c.3621delA	c.(3619-3621)aaafs	p.K1207fs	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.K869fs|ARAP3_ENST00000508305.1_Frame_Shift_Del_p.K1038fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1207	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCAGGGGGACTTTTTTCAAGA	0.587																																																	0								ENSG00000120318						37	38	38					5																	141036319		2203	4300	6503	ARAP3	SO:0001589	frameshift_variant	0				HGNC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3621delA	5.37:g.141036319delT	ENSP00000239440:p.Lys1207fs	Somatic	0	33	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	B4DIT1|D3DQE3	Frame_Shift_Del	DEL							pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.V1208fs	ENST00000239440.4	37	c.3621	CCDS4266.1	5																																																																																			-	pfscan_Ras-assoc		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	protein_coding	OTTHUMT00000251805.1	T	NM_022481			141036319	-1	no_errors	ENST00000239440	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	141036319	T	-	141036319	7	5	21	1	0	1	0	1	0	0	0	0	840	1606	56	0	1045	0	ARAP3	5	141036319	Frame_Shift_Del	DEL	T	TCGA-DX-A1KX-01A-22D-A24N-09	554421	141036319	39878941	25	1435											
OR2V2	285659	genome.wustl.edu	37	chr5	180582588	180582588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccattctccatcatcGtggcctcctatgctcacatt	4	16	4	0	rs528232543		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr5:180582588G>A	ENST00000328275.1	+	1	646	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATCATCGTGGCCTCCTA	0.522													g|||	1	0.000199681	0	0	5008	,	,		23622	0		0	False		,,,				2504	0.001																0								ENSG00000182613						270	256	261					5																	180582588		2203	4300	6503	OR2V2	SO:0001583	missense	0			-	HGNC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.646G>A	5.37:g.180582588G>A	ENSP00000332185:p.Val216Met	Somatic	1	126	0.79		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	150	26.47	Q6IFL6|Q8NGV1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V216M	ENST00000328275.1	37	c.646	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	1.653	-0.513416	0.04200	.	.	ENSG00000182613	ENST00000328275	T	0.00282	8.31	3.26	-0.0587	0.13796	GPCR, rhodopsin-like superfamily (1);	0.520048	0.14343	N	0.325617	T	0.00144	0.0004	L	0.32530	0.975	0.09310	N	1	P	0.39862	0.692	B	0.34180	0.177	T	0.29549	-1.0008	10	0.48119	T	0.1	.	1.4747	0.02423	0.1195:0.1793:0.3362:0.365	.	216	Q96R30	OR2V2_HUMAN	M	216	ENSP00000332185:V216M	ENSP00000332185:V216M	V	+	1	0	OR2V2	180515194	0.000000	0.05858	0.475000	0.27278	0.246000	0.25737	-1.950000	0.01530	0.186000	0.20125	-0.704000	0.03662	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.522	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	protein_coding	OTTHUMT00000253529.1	G		-		180582588	1	no_errors	ENST00000328275	ensembl	human	known	74_37	missense	SNP	0.052	A	A	180582588	G	A	180582588	3	1	21	1	0	0	0	0	1	0	0	0	11033	1145	40	1	648	1	OR2V2	5	180582588	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	39546269	180582588	332672	26	1436											
PGC	5225	genome.wustl.edu	37	chr6	41708334	41708334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaagacaaccgctcccccgCtggagccctgctggctgcag	11	17	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr6:41708334C>G	ENST00000373025.3	-	6	724	c.662G>C	c.(661-663)aGc>aCc	p.S221T		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	221					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CGCTCCCCCGCTGGAGCCCTG	0.587																																																	0								ENSG00000096088						78	83	82					6																	41708334		2203	4300	6503	PGC	SO:0001583	missense	0			-	HGNC		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.662G>C	6.37:g.41708334C>G	ENSP00000362116:p.Ser221Thr	Somatic	0	42	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	17	68.52	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP							pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.S221T	ENST00000373025.3	37	c.662	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	C	2.189	-0.385815	0.04966	.	.	ENSG00000096088	ENST00000373025	T	0.57752	0.38	5.35	4.21	0.49690	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	2.821640	0.00754	N	0.001081	T	0.18299	0.0439	N	0.17564	0.495	0.22571	N	0.998971	B	0.06786	0.001	B	0.11329	0.006	T	0.12889	-1.0530	10	0.24483	T	0.36	.	8.3301	0.32180	0.0:0.0923:0.0:0.9077	.	221	P20142	PEPC_HUMAN	T	221	ENSP00000362116:S221T	ENSP00000362116:S221T	S	-	2	0	PGC	41816312	0.009000	0.17119	0.018000	0.16275	0.001000	0.01503	1.184000	0.32053	1.071000	0.40834	-0.367000	0.07326	AGC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.587	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	C		-		41708334	-1	no_errors	ENST00000373025	ensembl	human	known	74_37	missense	SNP	0.047	G	G	41708334	C	G	41708334	3	3	21	1	0	0	0	0	1	0	0	0	11787	797	28	4	520	4	PGC	6	41708334	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09		41708334	129406733	27	1437											
TFAP2D	83741	genome.wustl.edu	37	chr6	50683222	50683222	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgcctaccgccgccatgacCtgtccctcatgagccatggc	9	17	1	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr6:50683222C>G	ENST00000008391.3	+	2	661	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCGCCATGACCTGTCCCTCAT	0.637																																																	0								ENSG00000008197						60	63	62					6																	50683222		2203	4300	6503	TFAP2D	SO:0001583	missense	0			-	HGNC	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.433C>G	6.37:g.50683222C>G	ENSP00000008391:p.Leu145Val	Somatic	0	78	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	80	15.79		Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C	p.L145V	ENST00000008391.3	37	c.433	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475529	0.04414	.	.	ENSG00000008197	ENST00000008391	D	0.97256	-4.31	5.06	5.06	0.68205	.	0.164825	0.40222	N	0.001148	D	0.86167	0.5868	N	0.08118	0	0.58432	D	0.999995	B	0.32101	0.356	B	0.25759	0.063	D	0.86425	0.1757	10	0.27785	T	0.31	-11.1335	12.2055	0.54350	0.0:0.9214:0.0:0.0786	.	145	Q7Z6R9	AP2D_HUMAN	V	145	ENSP00000008391:L145V	ENSP00000008391:L145V	L	+	1	2	TFAP2D	50791181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.698000	0.37794	2.509000	0.84616	0.655000	0.94253	CTG	-	NULL		0.637	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	protein_coding	OTTHUMT00000040881.1	C	NM_172238	-		50683222	1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	SNP	1.000	G	G	50683222	C	G	50683222	3	3	21	1	0	0	0	0	1	0	0	0	15797	680	24	4	439	4	TFAP2D	6	50683222	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	8974888	50683222	120431845	28	1438											
FABP7	2173	genome.wustl.edu	37	chr6	123100984	123100984	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaagctgaccaacagtcaGaactttgatgagtacatgaa	10	7	1	5			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr6:123100984G>T	ENST00000368444.3	+	1	365	c.45G>T	c.(43-45)caG>caT	p.Q15H	FABP7_ENST00000356535.4_Missense_Mutation_p.Q15H	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	15					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	CCAACAGTCAGAACTTTGATG	0.468																																																	0								ENSG00000164434						98	77	84					6																	123100984		2203	4300	6503	FABP7	SO:0001583	missense	0			-	HGNC	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"Fatty acid binding protein family"	3562	protein-coding gene	gene with protein product	"brain lipid binding protein"	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.45G>T	6.37:g.123100984G>T	ENSP00000357429:p.Gln15His	Somatic	0	64	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	82	13.68	B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.Q15H	ENST00000368444.3	37	c.45	CCDS5127.1	6	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751286	0.31046	.	.	ENSG00000164434	ENST00000368444;ENST00000356535	T;T	0.41758	0.99;3.15	5.1	2.18	0.27775	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.236774	0.43919	D	0.000514	T	0.12305	0.0299	L	0.28556	0.865	0.45580	D	0.998523	B;B;B	0.12013	0.0;0.005;0.002	B;B;B	0.17979	0.002;0.02;0.019	T	0.07849	-1.0751	10	0.56958	D	0.05	.	2.8337	0.05507	0.2281:0.1309:0.5206:0.1205	.	15;21;15	O15540;Q59HE4;Q9H047	FABP7_HUMAN;.;.	H	15	ENSP00000357429:Q15H;ENSP00000348931:Q15H	ENSP00000348931:Q15H	Q	+	3	2	FABP7	123142683	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.907000	0.28531	0.852000	0.35287	0.563000	0.77884	CAG	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd		0.468	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP7	protein_coding	OTTHUMT00000042037.1	G	NM_001446	-		123100984	1	no_errors	ENST00000356535	ensembl	human	known	74_37	missense	SNP	0.994	T	T	123100984	G	T	123100984	3	4	21	1	0	0	0	0	1	0	0	0	5364	933	33	3	47	3	FABP7	6	123100984	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	72417762	123100984	48014083	29	1439											
TRDN	10345	genome.wustl.edu	37	chr6	123580784	123580784	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttacctttactttctttttCagatatttcagttttcttct	2	8	5	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr6:123580784C>T	ENST00000398178.3	-	35	1876	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	TRDN_ENST00000334268.4_Missense_Mutation_p.E619K	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	619					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTTCTTTTTCAGATATTTCA	0.264																																																	0								ENSG00000186439						81	72	75					6																	123580784		1576	3530	5106	TRDN	SO:0001583	missense	0			-	HGNC	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1855G>A	6.37:g.123580784C>T	ENSP00000381240:p.Glu619Lys	Somatic	0	70	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	79	12.09	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom	p.E619K	ENST00000398178.3	37	c.1855	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687663	0.29962	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.22945	2.09;1.93	4.16	4.16	0.48862	.	0.196250	0.31010	N	0.008423	T	0.18509	0.0444	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.02860	-1.1101	10	0.07644	T	0.81	-16.7403	12.1614	0.54105	0.0:1.0:0.0:0.0	.	619	Q13061	TRDN_HUMAN	K	619;621;619	ENSP00000381240:E619K;ENSP00000333984:E619K	ENSP00000333984:E619K	E	-	1	0	TRDN	123622483	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	1.792000	0.38754	2.309000	0.77851	0.650000	0.86243	GAA	-	NULL		0.264	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	protein_coding		C		-		123580784	-1	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123580784	C	T	123580784	3	4	21	1	0	0	0	0	1	0	0	0	16475	835	29	2	362	2	TRDN	6	123580784	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	479800	123580784	47534283	30	1440											
ABCB5	340273	genome.wustl.edu	37	chr7	20689758	20689758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggttatatgatccGgatgatggctttgtaagtgc	13	6	0	3	rs548564211		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr7:20689758G>A	ENST00000404938.2	+	12	1972	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000258738.6_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	440	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATATGATCCGGATGATGGCT	0.483													G|||	1	0.000199681	0	0	5008	,	,		16852	0		0.001	False		,,,				2504	0																0								ENSG00000004846						95	86	88					7																	20689758		1568	3582	5150	ABCB5	SO:0001819	synonymous_variant	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1320G>A	7.37:g.20689758G>A		Somatic	0	36	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	64	11.11	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P440	ENST00000404938.2	37	c.1320	CCDS55090.1	7																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.483	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	G	NM_178559	-		20689758	1	no_errors	ENST00000404938	ensembl	human	putative	74_37	silent	SNP	0.000	A	A	20689758	G	A	20689758	2	1	21	1	0	0	0	0	0	0	0	1	44	1103	39	1		1	ABCB5	7	20689758	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		20689758	138448905	31	1441											
SSPO	23145	genome.wustl.edu	37	chr7	149506494	149506494	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagtgcctggcatgTgtcccagggacaagcagtgg	16	11	0	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr7:149506494T>A	ENST00000378016.2	+	0	9268							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCATGTGTCCCAGGGA	0.642																																																	0								ENSG00000197558						13	17	15					7																	149506494		1972	4111	6083	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149506494T>A		Somatic	0	87	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	97	27.07	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		T		-		149506494	1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	SNP	1.000	A	A	149506494	T	A	149506494	1	1	21	0	1	0	0	0	0	0	0	0	15196	1696	59	5		5	SSPO	7	149506494	RNA	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09	128816736	149506494	9632169	32	1442											
SSPO	23145	genome.wustl.edu	37	chr7	149521663	149521663	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgccaccggctctgtcTggatcctgcgacagggaggc	14	15	2	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr7:149521663T>A	ENST00000378016.2	+	0	13742							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGCTCTGTCTGGATCCTGCG	0.692																																																	0								ENSG00000197558						19	23	22					7																	149521663		1996	4154	6150	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149521663T>A		Somatic	0	25	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		T		-		149521663	1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	SNP	1.000	A	A	149521663	T	A	149521663	1	1	21	0	1	0	0	0	0	0	0	0	15196	1580	55	5		5	SSPO	7	149521663	RNA	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09	15169	149521663	9617000	33	1443											
ADAM2	2515	genome.wustl.edu	37	chr8	39606929	39606929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaatctggaggtaaaTatgaagcactacagtgacag	11	7	1	3	rs113117613	byFrequency	TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr8:39606929T>C	ENST00000265708.4	-	18	2019	c.1916A>G	c.(1915-1917)tAt>tGt	p.Y639C	ADAM2_ENST00000379853.2_Missense_Mutation_p.Y483C|ADAM2_ENST00000347580.4_Missense_Mutation_p.Y620C|ADAM2_ENST00000521880.1_Missense_Mutation_p.Y576C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	639	EGF-like.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGGAGGTAAATATGAAGCACT	0.393													.|||	3	0.000599042	0	0	5008	,	,		15763	0		0.003	False		,,,				2504	0																0								ENSG00000104755	T	CYS/TYR	5,4401	9.9+/-24.2	0,5,2198	111	110	111		1916	-5.4	0	8	dbSNP_132	111	40,8560	26.3+/-74.7	0,40,4260	yes	missense	ADAM2	NM_001464.3	194	0,45,6458	CC,CT,TT		0.4651,0.1135,0.346	probably-damaging	639/736	39606929	45,12961	2203	4300	6503	ADAM2	SO:0001583	missense	0			GMAF=0.0005	HGNC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1916A>G	8.37:g.39606929T>C	ENSP00000265708:p.Tyr639Cys	Somatic	0	41	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	P78326|Q9UQQ8	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Y639C	ENST00000265708.4	37	c.1916	CCDS34884.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	12.96	2.094542	0.36952	0.001135	0.004651	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.31	-5.42	0.02640	.	.	.	.	.	D	0.98308	0.9439	M	0.90759	3.145	0.09310	N	1	D;D;D;D	0.89917	0.999;0.996;1.0;0.999	D;P;D;D	0.76071	0.98;0.819;0.987;0.971	D	0.95590	0.8654	9	0.87932	D	0	.	7.1106	0.25388	0.7051:0.0894:0.0:0.2056	.	576;483;620;639	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	C	620;483;639;576	ENSP00000343854:Y620C;ENSP00000369182:Y483C;ENSP00000265708:Y639C;ENSP00000429352:Y576C	ENSP00000265708:Y639C	Y	-	2	0	ADAM2	39726086	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.336000	0.07863	-0.833000	0.04245	-0.327000	0.08410	TAT	-	NULL		0.393	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	protein_coding	OTTHUMT00000376926.1	T	NM_001464	rs113117613		39606929	-1	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	SNP	0.000	C	C	39606929	T	C	39606929	3	2	21	1	0	0	0	0	1	0	0	0	241	1406	49	5	303	5	ADAM2	8	39606929	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09		39606929	106757093	34	1444											
CYP11B1	1584	genome.wustl.edu	37	chr8	143958162	143958162	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accttggggctggtccagcgAgacaggctcctgggcatgaa	15	11	0	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr8:143958162A>T	ENST00000292427.4	-	4	767	c.735T>A	c.(733-735)tcT>tcA	p.S245S	CYP11B1_ENST00000517471.1_Silent_p.S245S|CYP11B1_ENST00000377675.3_Silent_p.S316S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	245					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGGTCCAGCGAGACAGGCTCC	0.607									Familial Hyperaldosteronism type I																																								0								ENSG00000160882						47	43	44					8																	143958162		2203	4300	6503	CYP11B1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.735T>A	8.37:g.143958162A>T		Somatic	0	63	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.S245	ENST00000292427.4	37	c.735	CCDS6392.1	8																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.607	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	A		-		143958162	-1	no_errors	ENST00000292427	ensembl	human	known	74_37	silent	SNP	0.024	T	T	143958162	A	T	143958162	2	4	21	1	0	0	0	0	0	0	0	1	4147	291	11	5		5	CYP11B1	8	143958162	Silent	SNP	A	TCGA-DX-A1KX-01A-22D-A24N-09	104351233	143958162	2405860	35	1445											
UNC13B	10497	genome.wustl.edu	37	chr9	35403170	35403170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttgtccctcagggtctgGtgtggacgatcctgtgggag	15	9	2	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr9:35403170G>T	ENST00000378495.3	+	37	4466	c.4244G>T	c.(4243-4245)gGt>gTt	p.G1415V	UNC13B_ENST00000396787.1_Missense_Mutation_p.G1446V|UNC13B_ENST00000378496.4_Missense_Mutation_p.G1434V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1415					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGGGTCTGGTGTGGACGAT	0.517																																																	0								ENSG00000198722						136	108	117					9																	35403170		2203	4300	6503	UNC13B	SO:0001583	missense	0			-	HGNC	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4244G>T	9.37:g.35403170G>T	ENSP00000367756:p.Gly1415Val	Somatic	0	62	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	34	56.41	Q5VYM8	Missense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.G1434V	ENST00000378495.3	37	c.4301	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923696	0.73213	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84800	-1.77;-1.64;-1.9	5.11	5.11	0.69529	C2 calcium/lipid-binding domain, CaLB (1);	0.050089	0.85682	D	0.000000	D	0.89174	0.6640	M	0.73598	2.24	0.80722	D	1	D;P	0.58620	0.983;0.788	P;B	0.51016	0.656;0.256	D	0.88976	0.3404	10	0.45353	T	0.12	-19.8499	19.0942	0.93242	0.0:0.0:1.0:0.0	.	1434;1415	F8W8M9;O14795	.;UN13B_HUMAN	V	1446;1415;1434;1021	ENSP00000380006:G1446V;ENSP00000367756:G1415V;ENSP00000367757:G1434V	ENSP00000367756:G1415V	G	+	2	0	UNC13B	35393170	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.566000	0.82347	2.816000	0.96949	0.563000	0.77884	GGT	-	superfamily_C2_dom		0.517	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	protein_coding	OTTHUMT00000052296.1	G	NM_006377	-		35403170	1	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35403170	G	T	35403170	3	4	21	1	0	0	0	0	1	0	0	0	16992	1261	44	3	4390	3	UNC13B	9	35403170	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		35403170	105810261	36	1446											
C9orf128	392307	genome.wustl.edu	37	chr9	35818940	35818940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcaaagaaagtctcgTgttcctcccagcgccggtca	12	12	3	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr9:35818940T>C	ENST00000423537.2	-	6	1387	c.1118A>G	c.(1117-1119)cAc>cGc	p.H373R	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	373										endometrium(2)|kidney(1)|lung(4)	7						GAAAGTCTCGTGTTCCTCCCA	0.577																																																	0								ENSG00000204930						59	60	60					9																	35818940		692	1591	2283	FAM221B	SO:0001583	missense	0			-	HGNC	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 128"	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.1118A>G	9.37:g.35818940T>C	ENSP00000415299:p.His373Arg	Somatic	0	67	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	143	10.06	Q5TCW2	Missense_Mutation	SNP							NULL	p.H373R	ENST00000423537.2	37	c.1118	CCDS43799.2	9	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091353	0.55968	.	.	ENSG00000204930	ENST00000423537	T	0.32753	1.44	5.42	5.42	0.78866	.	.	.	.	.	T	0.59088	0.2168	M	0.85945	2.785	0.30313	N	0.7883	D	0.89917	1.0	D	0.91635	0.999	T	0.64807	-0.6320	9	0.87932	D	0	-7.4838	11.9076	0.52721	0.0:0.0:0.0:1.0	.	373	A6H8Z2	CI128_HUMAN	R	373	ENSP00000415299:H373R	ENSP00000415299:H373R	H	-	2	0	C9orf128	35808940	0.997000	0.39634	0.998000	0.56505	0.168000	0.22595	3.192000	0.50989	2.071000	0.62044	0.456000	0.33151	CAC	-	NULL		0.577	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM221B	protein_coding	OTTHUMT00000355861.1	T	NM_001012446	-		35818940	-1	no_errors	ENST00000423537	ensembl	human	known	74_37	missense	SNP	0.999	C	C	35818940	T	C	35818940	3	2	21	1	0	0	0	0	1	0	0	0	2457	1696	59	5	98	5	C9orf128	9	35818940	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09	415770	35818940	105394491	37	1447											
EXOSC3	51010	genome.wustl.edu	37	chr9	37784919	37784919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccccagggccttccgcGtcctcctgttccggcaggag	12	18	0	0	rs147510873	byFrequency	TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr9:37784919G>A	ENST00000327304.5	-	1	135	c.123C>T	c.(121-123)gaC>gaT	p.D41D	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Silent_p.D41D|EXOSC3_ENST00000490516.1_5'Flank	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	41					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		GGCCTTCCGCGTCCTCCTGTT	0.687													G|||	3	0.000599042	0.0023	0	5008	,	,		16107	0		0	False		,,,				2504	0																0								ENSG00000107371	G	,	4,4396		0,4,2196	33	29	30		123,123	0.6	0.1	9	dbSNP_134	30	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EXOSC3	NM_001002269.1,NM_016042.2	,	0,4,6496	AA,AG,GG		0.0,0.0909,0.0308	,	41/165,41/276	37784919	4,12996	2200	4300	6500	EXOSC3	SO:0001819	synonymous_variant	0			-	HGNC	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.123C>T	9.37:g.37784919G>A		Somatic	0	67	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	75	13.79	A8K0K6|Q5QP85|Q9Y3A8	Silent	SNP							NULL	p.D41	ENST00000327304.5	37	c.123	CCDS35016.1	9																																																																																			-	NULL		0.687	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC3	protein_coding	OTTHUMT00000052478.3	G	NM_016042	rs147510873		37784919	-1	no_errors	ENST00000327304	ensembl	human	known	74_37	silent	SNP	0.400	A	A	37784919	G	A	37784919	2	1	21	1	0	0	0	0	0	0	0	1	5318	1136	40	1		1	EXOSC3	9	37784919	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	1965979	37784919	103428512	38	1448											
TMEM38B	55151	genome.wustl.edu	37	chr9	108456972	108456972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggacgagttggctctgGccttctcccgcacgtccatg	12	14	2	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr9:108456972G>A	ENST00000374692.3	+	1	148	c.31G>A	c.(31-33)Gcc>Acc	p.A11T		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	11						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GTTGGCTCTGGCCTTCTCCCG	0.627																																																	0								ENSG00000095209						118	95	103					9																	108456972		2203	4300	6503	TMEM38B	SO:0001583	missense	0			-	HGNC	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.31G>A	9.37:g.108456972G>A	ENSP00000363824:p.Ala11Thr	Somatic	0	62	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	60	34.07	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP							pfam_TRIC_channel	p.A11T	ENST00000374692.3	37	c.31	CCDS6768.1	9	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130146	0.08981	.	.	ENSG00000095209	ENST00000374692	T	0.43688	0.94	5.36	0.14	0.14804	.	0.590460	0.18286	N	0.145884	T	0.15392	0.0371	N	0.08118	0	0.42120	D	0.991429	B	0.02656	0.0	B	0.01281	0.0	T	0.11542	-1.0583	10	0.09843	T	0.71	-3.1721	3.5193	0.07736	0.2382:0.0:0.4495:0.3123	.	11	Q9NVV0	TM38B_HUMAN	T	11	ENSP00000363824:A11T	ENSP00000363824:A11T	A	+	1	0	TMEM38B	107496793	0.008000	0.16893	0.677000	0.29947	0.025000	0.11179	-0.586000	0.05787	0.210000	0.20664	-0.149000	0.13747	GCC	-	NULL		0.627	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	protein_coding	OTTHUMT00000053517.1	G	NM_018112	-		108456972	1	no_errors	ENST00000374692	ensembl	human	known	74_37	missense	SNP	0.218	A	A	108456972	G	A	108456972	3	1	21	1	0	0	0	0	1	0	0	0	16167	1203	42	2	33	2	TMEM38B	9	108456972	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	70672053	108456972	32756459	39	1449											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14950956	14950956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatccccctgccactgtGgaggaagggaagttttccaa	12	10	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr10:14950956G>A	ENST00000378278.2	-	14	1567	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	DCLRE1C_ENST00000396817.2_Silent_p.S390S|DCLRE1C_ENST00000378254.1_Silent_p.S390S|DCLRE1C_ENST00000378249.1_Silent_p.S395S|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378255.1_Silent_p.S390S|DCLRE1C_ENST00000378246.2_Silent_p.S395S|DCLRE1C_ENST00000357717.2_Silent_p.S395S|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378258.1_Silent_p.S390S|DCLRE1C_ENST00000453695.2_Silent_p.S390S|DCLRE1C_ENST00000378242.1_Silent_p.S163S			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	510					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CTGCCACTGTGGAGGAAGGGA	0.448								Non-homologous end-joining																																									0								ENSG00000152457						45	46	46					10																	14950956		2203	4300	6503	DCLRE1C	SO:0001819	synonymous_variant	0			-	HGNC	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1530C>T	10.37:g.14950956G>A		Somatic	0	33	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP							pfam_DRMBL	p.S510	ENST00000378278.2	37	c.1530	CCDS31149.1	10																																																																																			-	NULL		0.448	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	protein_coding	OTTHUMT00000046934.1	G	NM_022487	-		14950956	-1	no_errors	ENST00000378278	ensembl	human	known	74_37	silent	SNP	0.941	A	A	14950956	G	A	14950956	2	1	21	1	0	0	0	0	0	0	0	1	4298	1335	47	2		2	DCLRE1C	10	14950956	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		14950956	120583791	40	1450											
ANXA8L2	728113	genome.wustl.edu	37	chr10	47756669	47756669	+	Frame_Shift_Del	DEL	G	G	-													cggcaggcgagaatattcgtGggactgatgagatgaaattc							TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr10:47756669delG	ENST00000374277.5	+	8	705	c.583delG	c.(583-585)gggfs	p.G195fs	ANXA8L2_ENST00000340243.6_Frame_Shift_Del_p.G176fs|ANXA8L2_ENST00000538825.1_Frame_Shift_Del_p.G133fs|AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000449464.2_3'UTR	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						GAATATTCGTGGGACTGATGA	0.602																																																	0								ENSG00000186807						65	39	48					10																	47756669		1981	3769	5750	ANXA8L2	SO:0001589	frameshift_variant	0				HGNC																												ENST00000374277.5:c.583delG	10.37:g.47756669delG	ENSP00000363395:p.Gly195fs	Somatic	0	82	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	56	12.50		Frame_Shift_Del	DEL							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII	p.T196fs	ENST00000374277.5	37	c.583	CCDS7216.1	10																																																																																			-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin		0.602	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA8L2	protein_coding	OTTHUMT00000047866.1	G				47756669	1	no_errors	ENST00000374277	ensembl	human	known	74_37	frame_shift_del	DEL	0.827	-	-	47756669	G	-	47756669	7	5	21	1	0	1	0	1	0	0	0	0	724	1348	47	0	613	0	ANXA8L2	10	47756669	Frame_Shift_Del	DEL	G	TCGA-DX-A1KX-01A-22D-A24N-09	32805713	47756669	87778078	41	1451											
ARHGAP22	58504	genome.wustl.edu	37	chr10	49654635	49654635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctaaccgggacattcgtttTctcaggtcagcactcccttc	7	14	3	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr10:49654635T>A	ENST00000249601.4	-	10	2192	c.1896A>T	c.(1894-1896)agA>agT	p.R632S	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R542S|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R638S|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R648S|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.R465S|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.R523S|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R473S	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	632					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACATTCGTTTTCTCAGGTCAG	0.488																																																	0								ENSG00000128805						110	101	104					10																	49654635		2203	4300	6503	ARHGAP22	SO:0001583	missense	0			-	HGNC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1896A>T	10.37:g.49654635T>A	ENSP00000249601:p.Arg632Ser	Somatic	0	35	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R648S	ENST00000249601.4	37	c.1944	CCDS7227.1	10	.	.	.	.	.	.	.	.	.	.	T	6.399	0.441816	0.12164	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	4.42	1.77	0.24775	.	0.338459	0.32134	N	0.006523	T	0.45816	0.1361	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P;D	0.60575	0.842;0.651;0.952;0.842;0.763;0.988	B;B;P;B;B;P	0.56216	0.257;0.165;0.523;0.165;0.242;0.794	T	0.38542	-0.9656	10	0.16420	T	0.52	.	8.3312	0.32187	0.0:0.8377:0.0:0.1623	.	638;632;648;632;542;465	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	S	632;523;473;465;542;638;648	ENSP00000249601:R632S;ENSP00000363287:R523S;ENSP00000363285:R473S;ENSP00000422868:R465S;ENSP00000410054:R542S;ENSP00000416701:R638S;ENSP00000412461:R648S	ENSP00000249601:R632S	R	-	3	2	ARHGAP22	49324641	0.001000	0.12720	0.016000	0.15963	0.009000	0.06853	1.192000	0.32150	0.054000	0.16065	-0.441000	0.05720	AGA	-	NULL		0.488	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP22	protein_coding	OTTHUMT00000358767.1	T	NM_021226	-		49654635	-1	no_errors	ENST00000417912	ensembl	human	known	74_37	missense	SNP	0.032	A	A	49654635	T	A	49654635	3	1	21	1	0	0	0	0	1	0	0	0	872	1780	62	5	204	5	ARHGAP22	10	49654635	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09	1897966	49654635	85880112	42	1452											
STK32C	282974	genome.wustl.edu	37	chr10	134036442	134036442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcgccggggctgcctGcacgtcctggaggctggaga	18	13	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr10:134036442G>T	ENST00000368622.1	-	9	1072	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	STK32C_ENST00000368625.4_Missense_Mutation_p.Q361K					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GGGGCTGCCTGCACGTCCTGG	0.692																																																	0								ENSG00000165752						13	16	15					10																	134036442		2168	4249	6417	STK32C	SO:0001583	missense	0			-	HGNC	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.691C>A	10.37:g.134036442G>T	ENSP00000357611:p.Gln231Lys	Somatic	0	43	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q361K	ENST00000368622.1	37	c.1081		10	.	.	.	.	.	.	.	.	.	.	G	6.222	0.409017	0.11812	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.22539	1.95;1.95;1.95	3.89	2.96	0.34315	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.198270	0.33110	U	0.005271	T	0.08935	0.0221	N	0.03050	-0.425	0.43175	D	0.994986	B;B;B	0.23806	0.091;0.0;0.0	B;B;B	0.33121	0.158;0.006;0.001	T	0.19192	-1.0313	10	0.02654	T	1	.	12.7296	0.57191	0.0:0.0:0.8341:0.1659	.	361;348;231	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	K	231;348;361	ENSP00000357611:Q231K;ENSP00000298630:Q348K;ENSP00000357614:Q361K	ENSP00000298630:Q348K	Q	-	1	0	STK32C	133886432	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	6.661000	0.74422	0.840000	0.34995	0.479000	0.44913	CAG	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.692	STK32C-001	KNOWN	basic	protein_coding	STK32C	protein_coding	OTTHUMT00000051068.2	G	NM_173575	-		134036442	-1	no_errors	ENST00000368625	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134036442	G	T	134036442	3	4	21	1	0	0	0	0	1	0	0	0	15306	1328	46	3	434	3	STK32C	10	134036442	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	84381807	134036442	1498305	43	1453											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651203	1651210	+	Frame_Shift_Del	DEL	TGTGGGGG	TGTGGGGG	-													gtggctccggctgtggaggcTgtgggggctgtggctccggc							TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	TGTGGGGG	TGTGGGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr11:1651203_1651210delTGTGGGGG	ENST00000399676.2	+	1	171_178	c.133_140delTGTGGGGG	c.(133-141)tgtgggggcfs	p.CGG45fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	45						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggaggctgtgggggctgtggctcc	0.702																																																	0								ENSG00000185940																																			KRTAP5-5	SO:0001589	frameshift_variant	0				HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.133_140delTGTGGGGG	11.37:g.1651203_1651210delTGTGGGGG	ENSP00000382584:p.Cys45fs	Somatic					0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MWN2	Frame_Shift_Del	DEL							NULL	p.C45fs	ENST00000399676.2	37	c.133_140	CCDS41592.1	11																																																																																			-	NULL		0.702	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	TGTGGGGG				1651210	1	no_errors	ENST00000399676	ensembl	human	known	74_37	frame_shift_del	DEL	0.207:0.218:0.194:0.182:0.193:0.208:0.406:0.818	-	-	1651210	TGTGGGGG	-	1651203	7	5	21	1	0	1	0	1	0	0	0	0	8566	1580	55	0	135	0	KRTAP5-5	11	1651203	Frame_Shift_Del	DEL	TGTGGGGG	TCGA-DX-A1KX-01A-22D-A24N-09		1651203	133355313	44	1454											
RCN1	5954	genome.wustl.edu	37	chr11	32125935	32125935	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagctaactaaagaggaaAtattggagaactggaacatg	11	4	0	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr11:32125935A>T	ENST00000054950.3	+	6	1206	c.913A>T	c.(913-915)Ata>Tta	p.I305L	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Missense_Mutation_p.I254L	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	305	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TAAAGAGGAAATATTGGAGAA	0.393																																																	0								ENSG00000049449						91	80	84					11																	32125935		2202	4299	6501	RCN1	SO:0001583	missense	0			-	HGNC	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"EF-hand domain containing"	9934	protein-coding gene	gene with protein product	"proliferation-inducing gene 20"	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.913A>T	11.37:g.32125935A>T	ENSP00000054950:p.Ile305Leu	Somatic	0	41	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	28	34.88	B7Z1M1|D3DR00	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.I305L	ENST00000054950.3	37	c.913	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	a	12.98	2.100664	0.37048	.	.	ENSG00000049449	ENST00000532942;ENST00000054950;ENST00000528630	T;T	0.55930	0.62;0.49	5.82	4.7	0.59300	EF-hand-like domain (1);	0.083194	0.85682	D	0.000000	T	0.62024	0.2394	M	0.85462	2.755	0.58432	D	0.999993	P;P	0.50819	0.939;0.776	P;B	0.49140	0.601;0.4	T	0.65772	-0.6087	10	0.62326	D	0.03	-15.884	7.905	0.29757	0.7691:0.0:0.2309:0.0	.	305;254	Q15293;B7Z1M1	RCN1_HUMAN;.	L	254;305;2	ENSP00000436422:I254L;ENSP00000054950:I305L	ENSP00000054950:I305L	I	+	1	0	RCN1	32082511	1.000000	0.71417	0.976000	0.42696	0.429000	0.31625	4.622000	0.61240	1.041000	0.40125	-0.250000	0.11733	ATA	-	NULL		0.393	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	protein_coding	OTTHUMT00000388510.1	A	NM_002901	-		32125935	1	no_errors	ENST00000054950	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32125935	A	T	32125935	3	4	21	1	0	0	0	0	1	0	0	0	13187	101	4	5	935	5	RCN1	11	32125935	Missense_Mutation	SNP	A	TCGA-DX-A1KX-01A-22D-A24N-09	30474732	32125935	102880581	45	1455											
AMBRA1	55626	genome.wustl.edu	37	chr11	46419176	46419176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggctgggttggctcccGcccaggggtaccaggctggt	18	11	0	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr11:46419176G>A	ENST00000458649.2	-	18	4139	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	AMBRA1_ENST00000426438.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R1151W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R1181W|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R1181W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R1122W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1241					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGGCTCCCGCCCAGGGGTA	0.672																																																	0								ENSG00000110497						53	57	56					11																	46419176		2202	4298	6500	AMBRA1	SO:0001583	missense	0			-	HGNC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3721C>T	11.37:g.46419176G>A	ENSP00000415327:p.Arg1241Trp	Somatic	0	47	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1241W	ENST00000458649.2	37	c.3721		11	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003501	0.35320	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.72942	-0.54;-0.7;-0.29;-0.42;-0.29;-0.4;-0.42	4.49	1.39	0.22231	.	0.608753	0.15976	N	0.235541	T	0.61677	0.2366	N	0.24115	0.695	0.29365	N	0.864388	D;D;D;D;D;D	0.63880	0.978;0.987;0.993;0.987;0.987;0.987	B;P;P;P;P;P	0.47744	0.353;0.556;0.556;0.556;0.502;0.556	T	0.61926	-0.6962	10	0.87932	D	0	.	12.4494	0.55669	0.0:0.0:0.5464:0.4536	.	1241;1212;1181;1122;1244;1151	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	W	1151;1122;1181;1212;1181;1241;199;1212	ENSP00000318313:R1151W;ENSP00000433372:R1122W;ENSP00000431926:R1181W;ENSP00000410899:R1212W;ENSP00000298834:R1181W;ENSP00000415327:R1241W;ENSP00000433945:R1212W	ENSP00000298834:R1181W	R	-	1	2	AMBRA1	46375752	0.002000	0.14202	0.796000	0.32109	0.217000	0.24651	1.025000	0.30090	0.321000	0.23259	-0.268000	0.10319	CGG	-	NULL		0.672	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	protein_coding	OTTHUMT00000390103.1	G	NM_017749	-		46419176	-1	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	SNP	0.887	A	A	46419176	G	A	46419176	3	1	21	1	0	0	0	0	1	0	0	0	565	1086	38	1	179	1	AMBRA1	11	46419176	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	14293241	46419176	88587340	46	1456											
OR5AK2	390181	genome.wustl.edu	37	chr11	56756609	56756609	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttttgttgatatctgttacaCttctgctatcactcccaaga	5	10	3	2	rs375461189		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr11:56756609C>G	ENST00000326855.2	+	1	263	c.221C>G	c.(220-222)aCt>aGt	p.T74S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATCTGTTACACTTCTGCTATC	0.348																																																	0								ENSG00000181273						95	88	90					11																	56756609		2201	4296	6497	OR5AK2	SO:0001583	missense	0			-	HGNC	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.221C>G	11.37:g.56756609C>G	ENSP00000322784:p.Thr74Ser	Somatic	0	94	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	71	29.70	B2RNZ9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T74S	ENST00000326855.2	37	c.221	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.408551	0.00193	.	.	ENSG00000181273	ENST00000326855	T	0.00014	9.2	3.85	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001316	T	0.00073	0.0002	N	0.16478	0.41	0.09310	N	1	B	0.25719	0.132	B	0.28305	0.088	T	0.16689	-1.0394	10	0.02654	T	1	-18.9326	11.6306	0.51173	0.0:0.7046:0.2954:0.0	.	74	Q8NH90	O5AK2_HUMAN	S	74	ENSP00000322784:T74S	ENSP00000322784:T74S	T	+	2	0	OR5AK2	56513185	0.000000	0.05858	0.389000	0.26208	0.256000	0.26092	0.505000	0.22642	2.142000	0.66516	0.194000	0.17425	ACT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.348	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	protein_coding	OTTHUMT00000392446.1	C	NM_001005323	-		56756609	1	no_errors	ENST00000326855	ensembl	human	known	74_37	missense	SNP	0.003	G	G	56756609	C	G	56756609	3	3	21	1	0	0	0	0	1	0	0	0	11144	565	20	4	223	4	OR5AK2	11	56756609	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	10337433	56756609	78249907	47	1457											
PCF11	51585	genome.wustl.edu	37	chr11	82879708	82879708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggacccaataaattaagCcctcgaattgatggacctcc	8	11	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr11:82879708C>T	ENST00000298281.4	+	8	2783	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	777	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATAAATTAAGCCCTCGAATTG	0.493																																																	0								ENSG00000165494						100	96	97					11																	82879708		1885	4112	5997	PCF11	SO:0001819	synonymous_variant	0			-	HGNC	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2331C>T	11.37:g.82879708C>T		Somatic	0	27	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	29.73	A6H8W7|O43671|Q6P0X8	Silent	SNP							pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.S777	ENST00000298281.4	37	c.2331	CCDS44689.1	11																																																																																			-	NULL		0.493	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	protein_coding	OTTHUMT00000392548.2	C	NM_015885	-		82879708	1	no_errors	ENST00000298281	ensembl	human	known	74_37	silent	SNP	1.000	T	T	82879708	C	T	82879708	2	4	21	1	0	0	0	0	0	0	0	1	11575	738	26	2		2	PCF11	11	82879708	Silent	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	26123099	82879708	52126808	48	1458											
FAT3	120114	genome.wustl.edu	37	chr11	92086926	92086926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagattcattgttagagccTctgactggggttcaccatac	9	10	3	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr11:92086926T>A	ENST00000298047.6	+	1	1665	c.1648T>A	c.(1648-1650)Tct>Act	p.S550T	FAT3_ENST00000525166.1_Missense_Mutation_p.S400T|FAT3_ENST00000409404.2_Missense_Mutation_p.S550T|FAT3_ENST00000541502.1_Missense_Mutation_p.S550T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	550	Cadherin 5. {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)				TGTTAGAGCCTCTGACTGGGG	0.408										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						78	82	81					11																	92086926		1838	4087	5925	FAT3	SO:0001583	missense	0			-	HGNC	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.1648T>A	11.37:g.92086926T>A	ENSP00000298047:p.Ser550Thr	Somatic	0	27	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S550T	ENST00000298047.6	37	c.1648		11	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705375	0.68615	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.82	5.82	0.92795	.	.	.	.	.	T	0.51092	0.1654	N	0.12920	0.275	0.54753	D	0.999988	D	0.76494	0.999	D	0.83275	0.996	T	0.50389	-0.8834	9	0.24483	T	0.36	.	15.3554	0.74423	0.0:0.0:0.0:1.0	.	550	Q8TDW7-3	.	T	550;550;550;400	ENSP00000298047:S550T;ENSP00000387040:S550T;ENSP00000443786:S550T;ENSP00000432586:S400T	ENSP00000298047:S550T	S	+	1	0	FAT3	91726574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.975000	0.88055	2.223000	0.72356	0.482000	0.46254	TCT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.408	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		T	NM_001008781	-		92086926	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92086926	T	A	92086926	3	1	21	1	0	0	0	0	1	0	0	0	5693	1551	54	5	1650	5	FAT3	11	92086926	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09	9207218	92086926	42919590	49	1459											
PHC1	1911	genome.wustl.edu	37	chr12	9085405	9085405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcactgcccctcagccacCacaggtcccacctactcagc	5	22	3	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr12:9085405C>A	ENST00000543824.1	+	9	1684	c.1352C>A	c.(1351-1353)cCa>cAa	p.P451Q	PHC1_ENST00000536844.1_Missense_Mutation_p.P230Q|PHC1_ENST00000544916.1_Missense_Mutation_p.P451Q|PHC1_ENST00000433083.2_Missense_Mutation_p.P406Q|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	451					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCTCAGCCACCACAGGTCCCA	0.607																																																	0								ENSG00000111752																																			PHC1	SO:0001583	missense	0			-	HGNC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1352C>A	12.37:g.9085405C>A	ENSP00000440674:p.Pro451Gln	Somatic	0	96	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	101	20.47	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.P451Q	ENST00000543824.1	37	c.1352	CCDS8597.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.583704|1.583704	0.28268|0.28268	.|.	.|.	ENSG00000111752|ENSG00000111752	ENST00000537610|ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	.|T;T;T;T;D	.|0.88354	.|0.78;0.78;0.78;0.78;-2.37	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	.|0.162146	.|0.42682	.|D	.|0.000663	T|T	0.78541|0.78541	0.4299|0.4299	N|N	0.08118|0.08118	0|0	0.20821|0.20821	N|N	0.999847|0.999847	.|P;B;B	.|0.35208	.|0.49;0.392;0.18	.|B;B;B	.|0.39904	.|0.313;0.106;0.023	T|T	0.67476|0.67476	-0.5661|-0.5661	5|10	.|0.19147	.|T	.|0.46	-7.904|-7.904	12.5052|12.5052	0.55977|0.55977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|451;451;451	.|B4DF21;P78364;B2RXH1	.|.;PHC1_HUMAN;.	N|Q	87|451;451;406;451;230	.|ENSP00000440674:P451Q;ENSP00000251757:P451Q;ENSP00000399194:P406Q;ENSP00000437659:P451Q;ENSP00000440488:P230Q	.|ENSP00000251757:P451Q	H|P	+|+	1|2	0|0	PHC1|PHC1	8976672|8976672	0.732000|0.732000	0.28121|0.28121	0.986000|0.986000	0.45419|0.45419	0.970000|0.970000	0.65996|0.65996	2.659000|2.659000	0.46741|0.46741	2.652000|2.652000	0.90054|0.90054	0.650000|0.650000	0.86243|0.86243	CAC|CCA	-	NULL		0.607	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	protein_coding	OTTHUMT00000399115.1	C	NM_004426	-		9085405	1	no_errors	ENST00000543824	ensembl	human	known	74_37	missense	SNP	0.996	A	A	9085405	C	A	9085405	3	1	21	1	0	0	0	0	1	0	0	0	11818	594	21	3	1378	3	PHC1	12	9085405	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09		9085405	124766490	50	1460											
IFLTD1	160492	genome.wustl.edu	37	chr12	25801455	25801455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggactctggaaacacCgatgtctcctgctctcactg	10	13	4	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr12:25801455C>T	ENST00000445693.1	-	1	33	c.31G>A	c.(31-33)Ggt>Agt	p.G11S		NM_001145727.2	NP_001139199.1	Q8N9Z9	LMTD1_HUMAN		0					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTGGAAACACCGATGTCTCCT	0.478																																																	0								ENSG00000152936						247	218	227					12																	25801455		692	1591	2283	IFLTD1	SO:0001583	missense	0			-	HGNC																												ENST00000445693.1:c.31G>A	12.37:g.25801455C>T	ENSP00000407043:p.Gly11Ser	Somatic	0	55	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	49	24.62	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP							pfam_Lamin_tail_dom	p.G11S	ENST00000445693.1	37	c.31	CCDS44847.1	12	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745636	0.30955	.	.	ENSG00000152936	ENST00000445693	T	0.13901	2.55	3.95	2.03	0.26663	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.09310	N	0.999992	D	0.61080	0.989	B	0.44044	0.439	T	0.06463	-1.0825	8	0.02654	T	1	.	4.8409	0.13489	0.2108:0.6744:0.0:0.1148	.	11	Q8N9Z9-3	.	S	11	ENSP00000407043:G11S	ENSP00000407043:G11S	G	-	1	0	IFLTD1	25692722	0.001000	0.12720	0.008000	0.14137	0.003000	0.03518	1.143000	0.31553	0.840000	0.34995	0.650000	0.86243	GGT	-	NULL		0.478	IFLTD1-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IFLTD1	protein_coding	OTTHUMT00000402280.1	C		-		25801455	-1	no_errors	ENST00000445693	ensembl	human	putative	74_37	missense	SNP	0.001	T	T	25801455	C	T	25801455	3	4	21	1	0	0	0	0	1	0	0	0	7532	652	23	1	1322	1	IFLTD1	12	25801455	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	16716050	25801455	108050440	51	1461											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46325318	46325318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagatatggtacttgttGgaaaaatagttcttggcaac	10	5	1	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr12:46325318G>A	ENST00000369367.3	-	10	1045	c.812C>T	c.(811-813)cCa>cTa	p.P271L	SCAF11_ENST00000465950.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.P79L|SCAF11_ENST00000419565.2_Missense_Mutation_p.P271L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	271					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTACTTGTTGGAAAAATAGT	0.279																																																	0								ENSG00000139218						66	60	62					12																	46325318		1802	4065	5867	SCAF11	SO:0001583	missense	0			-	HGNC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.812C>T	12.37:g.46325318G>A	ENSP00000358374:p.Pro271Leu	Somatic	0	48	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	89	9.18	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP							smart_Znf_RING,pfscan_Znf_RING	p.P271L	ENST00000369367.3	37	c.812	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831739	0.91036	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.43294	0.95;1.46;0.95;0.95	6.17	6.17	0.99709	.	0.159443	0.29185	U	0.012891	T	0.56321	0.1977	L	0.34521	1.04	0.50171	D	0.999859	D;D	0.76494	0.999;0.998	D;D	0.71656	0.974;0.941	T	0.55270	-0.8167	10	0.87932	D	0	-12.0345	19.0599	0.93085	0.0:0.0:1.0:0.0	.	79;271	F8VXG7;Q99590	.;SCAFB_HUMAN	L	271;79;271;211	ENSP00000358374:P271L;ENSP00000448864:P79L;ENSP00000413036:P271L;ENSP00000446746:P211L	ENSP00000358374:P271L	P	-	2	0	SCAF11	44611585	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.554000	0.60760	2.941000	0.99782	0.655000	0.94253	CCA	-	NULL		0.279	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	protein_coding	OTTHUMT00000313992.2	G	NM_004719	-		46325318	-1	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46325318	G	A	46325318	3	1	21	1	0	0	0	0	1	0	0	0	14185	1348	47	2	3603	2	SFRS2IP	12	46325318	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	20523863	46325318	87526577	52	1462											
SILV	6490	genome.wustl.edu	37	chr12	56355454	56355454	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccactctggatacagctGcctgttccaggctttggttc	10	12	1	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr12:56355454G>A	ENST00000548747.1	-	2	801	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Nonsense_Mutation_p.Q47*|PMEL_ENST00000548493.1_Nonsense_Mutation_p.Q47*|PMEL_ENST00000449260.2_Nonsense_Mutation_p.Q47*|PMEL_ENST00000536427.1_Nonsense_Mutation_p.Q47*|PMEL_ENST00000360714.4_Nonsense_Mutation_p.Q47*			P40967	PMEL_HUMAN	premelanosome protein	47					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGATACAGCTGCCTGTTCCAG	0.532																																																	0								ENSG00000185664						121	120	120					12																	56355454		2203	4300	6503	PMEL	SO:0001587	stop_gained	0			-	HGNC	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.139C>T	12.37:g.56355454G>A	ENSP00000448828:p.Gln47*	Somatic	0	38	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Nonsense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.Q47*	ENST00000548747.1	37	c.139	CCDS8897.1	12	.	.	.	.	.	.	.	.	.	.	g	15.76	2.929063	0.52759	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000548803;ENST00000547137;ENST00000546543;ENST00000549418;ENST00000549233	.	.	.	4.74	1.66	0.24008	.	0.135086	0.34676	N	0.003762	.	.	.	.	.	.	0.50039	D	0.999845	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8075	8.7321	0.34505	0.0:0.1439:0.5606:0.2955	.	.	.	.	X	47;47;47;47;47;47;47;47;47;47;50	.	ENSP00000353940:Q47X	Q	-	1	0	PMEL	54641721	0.754000	0.28360	0.630000	0.29268	0.633000	0.38033	0.776000	0.26704	0.695000	0.31675	-0.183000	0.12914	CAG	-	NULL		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	protein_coding	OTTHUMT00000409626.1	G	NM_006928	-		56355454	-1	no_errors	ENST00000360714	ensembl	human	known	74_37	nonsense	SNP	0.606	A	A	56355454	G	A	56355454	4	1	21	1	0	0	0	0	0	1	0	0	14330	1328	46	2	1886	2	SILV	12	56355454	Nonsense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	10030136	56355454	77496441	53	1463											
C12orf64	283310	genome.wustl.edu	37	chr12	80672018	80672018	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttggaaagattgggagtatCtctcaggagaagtgattgct	13	4	2	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr12:80672018C>T	ENST00000547103.1	+	24	2731	c.2725C>T	c.(2725-2727)Ctc>Ttc	p.L909F	OTOGL_ENST00000458043.2_Missense_Mutation_p.L909F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	909					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGGGAGTATCTCTCAGGAGA	0.363																																																	0								ENSG00000165899																																			OTOGL	SO:0001583	missense	0			-	HGNC	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2725C>T	12.37:g.80672018C>T	ENSP00000447211:p.Leu909Phe	Somatic	0	47	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.L909F	ENST00000547103.1	37	c.2725		12	.	.	.	.	.	.	.	.	.	.	C	4.001	-0.002498	0.07819	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15718	2.4;2.4	5.26	1.2	0.21068	.	.	.	.	.	T	0.15869	0.0382	L	0.41961	1.31	0.35006	D	0.756453	.	.	.	.	.	.	T	0.18713	-1.0328	7	0.08837	T	0.75	.	10.8652	0.46851	0.2365:0.4198:0.3438:0.0	.	.	.	.	F	909	ENSP00000447211:L909F;ENSP00000400895:L909F	ENSP00000400895:L909F	L	+	1	0	OTOGL	79196149	0.930000	0.31532	0.739000	0.30968	0.987000	0.75469	0.599000	0.24089	0.017000	0.15025	0.591000	0.81541	CTC	-	NULL		0.363	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	C	NM_173591	-		80672018	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	SNP	0.965	T	T	80672018	C	T	80672018	3	4	21	1	0	0	0	0	1	0	0	0	1709	913	32	2	2819	2	C12orf64	12	80672018	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	24316564	80672018	53179877	54	1464											
SLC8A3	6547	genome.wustl.edu	37	chr14	70634623	70634623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgttgaaggctgcacTccctacaatggtagaaggtc	11	9	0	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr14:70634623T>C	ENST00000381269.2	-	2	1270	c.517A>G	c.(517-519)Agt>Ggt	p.S173G	SLC8A3_ENST00000534137.1_Missense_Mutation_p.S173G|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S173G|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S173G|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S173G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	173					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGGCTGCACTCCCTACAATG	0.498																																																	0								ENSG00000100678						97	86	90					14																	70634623		2203	4300	6503	SLC8A3	SO:0001583	missense	0			-	HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.517A>G	14.37:g.70634623T>C	ENSP00000370669:p.Ser173Gly	Somatic	0	60	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.S173G	ENST00000381269.2	37	c.517	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462500	0.63513	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	H	0.97158	3.95	0.80722	D	1	D;D;D;D	0.62365	0.987;0.989;0.991;0.991	D;D;D;D	0.83275	0.992;0.996;0.989;0.989	D	0.93874	0.7165	10	0.87932	D	0	.	15.7625	0.78096	0.0:0.0:0.0:1.0	.	173;173;173;173	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	G	173	ENSP00000349392:S173G;ENSP00000370669:S173G;ENSP00000350560:S173G;ENSP00000436688:S173G;ENSP00000433531:S173G	ENSP00000349392:S173G	S	-	1	0	SLC8A3	69704376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.033000	0.88852	2.117000	0.64856	0.454000	0.30748	AGT	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.498	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	T		-		70634623	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70634623	T	C	70634623	3	2	21	1	0	0	0	0	1	0	0	0	14716	1551	54	5	2405	5	SLC8A3	14	70634623	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09		70634623	36714917	55	1465											
ASB2	51676	genome.wustl.edu	37	chr14	94404161	94404161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgatgggccccgcccAgcggctcacctctggggcag	14	15	2	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr14:94404161A>T	ENST00000315988.4	-	7	1998	c.1510T>A	c.(1510-1512)Tgg>Agg	p.W504R	ASB2_ENST00000555019.1_Missense_Mutation_p.W552R|ASB2_ENST00000556337.1_5'Flank|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	504					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCCCCGCCCAGCGGCTCACC	0.602																																																	0								ENSG00000100628						53	48	50					14																	94404161		2203	4300	6503	ASB2	SO:0001583	missense	0			-	HGNC	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1510T>A	14.37:g.94404161A>T	ENSP00000320675:p.Trp504Arg	Somatic	0	39	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	13.33	B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.W504R	ENST00000315988.4	37	c.1510	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102426	0.76983	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.68903	-0.36;-0.26;-0.24	5.13	3.94	0.45596	.	0.058445	0.64402	D	0.000001	T	0.76933	0.4057	M	0.70595	2.14	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.949;0.997;0.926	T	0.73257	-0.4040	10	0.13108	T	0.6	-5.3798	11.8327	0.52305	0.8531:0.1469:0.0:0.0	.	520;552;504	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	R	552;520;504;450;450	ENSP00000451575:W552R;ENSP00000320675:W504R;ENSP00000450940:W450R	ENSP00000320675:W504R	W	-	1	0	ASB2	93473914	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.128000	0.64733	0.756000	0.33013	0.379000	0.24179	TGG	-	NULL		0.602	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	protein_coding	OTTHUMT00000412845.1	A		-		94404161	-1	no_errors	ENST00000315988	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94404161	A	T	94404161	3	4	21	1	0	0	0	0	1	0	0	0	1023	188	7	5	261	5	ASB2	14	94404161	Missense_Mutation	SNP	A	TCGA-DX-A1KX-01A-22D-A24N-09	23769538	94404161	12945379	56	1466											
ALDH1A2	8854	genome.wustl.edu	37	chr15	58357739	58357739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccgcttaccttggtgTacttaatttcgagattgggc	13	9	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr15:58357739T>C	ENST00000249750.4	-	1	877	c.110A>G	c.(109-111)tAc>tGc	p.Y37C	ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Y37C|ALDH1A2_ENST00000537372.1_5'UTR|CTD-2330J20.2_ENST00000559684.1_RNA	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	37					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TACCTTGGTGTACTTAATTTC	0.637																																																	0								ENSG00000128918						37	41	40					15																	58357739		2192	4292	6484	ALDH1A2	SO:0001583	missense	0			-	HGNC	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.110A>G	15.37:g.58357739T>C	ENSP00000249750:p.Tyr37Cys	Somatic	0	81	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	97	19.17	B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.Y37C	ENST00000249750.4	37	c.110	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097212	0.76870	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.15952	2.38;2.38	3.71	1.23	0.21249	Aldehyde/histidinol dehydrogenase (1);	0.137279	0.50627	D	0.000107	T	0.13756	0.0333	N	0.11560	0.145	0.80722	D	1	D;D	0.67145	0.98;0.996	P;P	0.58266	0.729;0.836	T	0.15037	-1.0451	10	0.31617	T	0.26	.	6.0759	0.19915	0.162:0.0:0.1691:0.6689	.	37;37	O94788-2;O94788	.;AL1A2_HUMAN	C	37	ENSP00000249750:Y37C;ENSP00000309623:Y37C	ENSP00000249750:Y37C	Y	-	2	0	ALDH1A2	56145031	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.181000	0.65054	0.053000	0.16036	0.456000	0.33151	TAC	-	superfamily_Ald_DH/histidinol_DH		0.637	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	protein_coding	OTTHUMT00000255869.1	T		-		58357739	-1	no_errors	ENST00000249750	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58357739	T	C	58357739	3	2	21	1	0	0	0	0	1	0	0	0	491	1638	57	5	1498	5	ALDH1A2	15	58357739	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09		58357739	44173653	57	1467											
FES	2242	genome.wustl.edu	37	chr15	91430557	91430557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcctgctgcccggcctgCtgcggtcactgcaggacctg	13	16	1	0	rs545069439		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr15:91430557C>A	ENST00000328850.3	+	5	767	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	FES_ENST00000414248.2_Missense_Mutation_p.L151M|FES_ENST00000394302.1_Missense_Mutation_p.L151M|FES_ENST00000394300.3_Missense_Mutation_p.L151M|FES_ENST00000450438.2_Missense_Mutation_p.L151M|FES_ENST00000444422.2_Missense_Mutation_p.L209M	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	209	Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCGGCCTGCTGCGGTCACT	0.667																																																	0								ENSG00000182511						33	35	34					15																	91430557		2198	4296	6494	FES	SO:0001583	missense	0			-	HGNC	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.625C>A	15.37:g.91430557C>A	ENSP00000331504:p.Leu209Met	Somatic	0	51	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP							pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.L209M	ENST00000328850.3	37	c.625	CCDS10365.1	15	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975590	0.34848	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	3.98	2.05	0.26809	.	0.288673	0.33753	N	0.004596	T	0.34193	0.0889	M	0.68317	2.08	0.34018	D	0.652346	P;D;D;D;D;P	0.71674	0.84;0.998;0.998;0.976;0.998;0.84	P;P;P;P;D;P	0.65443	0.613;0.904;0.896;0.784;0.935;0.613	T	0.49698	-0.8912	10	0.72032	D	0.01	-14.3199	10.4486	0.44509	0.0:0.8371:0.0:0.1629	.	191;151;151;151;209;209	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	M	209;151;151;209;151;151	ENSP00000331504:L209M;ENSP00000414629:L151M;ENSP00000377839:L151M;ENSP00000400868:L209M;ENSP00000377837:L151M;ENSP00000409915:L151M	ENSP00000331504:L209M	L	+	1	2	FES	89231561	1.000000	0.71417	0.086000	0.20670	0.046000	0.14306	3.522000	0.53480	0.459000	0.27016	-0.263000	0.10527	CTG	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.667	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	protein_coding	OTTHUMT00000313497.1	C	NM_002005	-		91430557	1	no_errors	ENST00000328850	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91430557	C	A	91430557	3	1	21	1	0	0	0	0	1	0	0	0	5822	796	28	3	639	3	FES	15	91430557	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	33072818	91430557	11100835	58	1468											
ACSM5	54988	genome.wustl.edu	37	chr16	20442633	20442633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcccttctgtttcttcaAttgctatttggtaagagacg	9	9	3	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr16:20442633A>G	ENST00000331849.4	+	10	1445	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	433					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTTTCTTCAATTGCTATTTG	0.478																																																	0								ENSG00000183549						134	119	124					16																	20442633		2203	4300	6503	ACSM5	SO:0001583	missense	0			-	HGNC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1298A>G	16.37:g.20442633A>G	ENSP00000327916:p.Asn433Ser	Somatic	0	79	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	21	69.12	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.N433S	ENST00000331849.4	37	c.1298	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	A	1.397	-0.579286	0.03854	.	.	ENSG00000183549	ENST00000331849	T	0.37915	1.17	4.37	-3.93	0.04143	AMP-dependent synthetase/ligase (1);	0.407810	0.20205	N	0.097009	T	0.09024	0.0223	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35276	-0.9795	10	0.02654	T	1	-3.3706	6.5177	0.22256	0.4053:0.3535:0.2412:0.0	.	433	Q6NUN0	ACSM5_HUMAN	S	433	ENSP00000327916:N433S	ENSP00000327916:N433S	N	+	2	0	ACSM5	20350134	0.000000	0.05858	0.242000	0.24170	0.984000	0.73092	0.087000	0.14958	-0.404000	0.07610	0.528000	0.53228	AAT	-	pfam_AMP-dep_Synth/Lig		0.478	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	protein_coding	OTTHUMT00000254413.1	A	NM_017888	-		20442633	1	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	SNP	0.010	G	G	20442633	A	G	20442633	3	3	21	1	0	0	0	0	1	0	0	0	187	101	4	5	1332	5	ACSM5	16	20442633	Missense_Mutation	SNP	A	TCGA-DX-A1KX-01A-22D-A24N-09		20442633	69912120	59	1469											
CHP2	63928	genome.wustl.edu	37	chr16	23768606	23768606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtgcaggaggctgatgaaGatggggatggggctgtgtcc	20	6	0	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr16:23768606G>T	ENST00000300113.2	+	6	922	c.499G>T	c.(499-501)Gat>Tat	p.D167Y		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	167	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GGCTGATGAAGATGGGGATGG	0.567																																																	0								ENSG00000166869						95	83	87					16																	23768606		2197	4300	6497	CHP2	SO:0001583	missense	0			-	HGNC		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.499G>T	16.37:g.23768606G>T	ENSP00000300113:p.Asp167Tyr	Somatic	0	65	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	53	18.46	A8K2I8	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D167Y	ENST00000300113.2	37	c.499	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857504	0.71834	.	.	ENSG00000166869	ENST00000300113	T	0.40225	1.04	5.21	4.25	0.50352	EF-hand-like domain (1);	0.139399	0.43747	D	0.000521	T	0.76219	0.3957	H	0.98682	4.3	0.53688	D	0.999971	D	0.89917	1.0	D	0.68039	0.955	D	0.85964	0.1472	10	0.87932	D	0	-20.7131	13.948	0.64099	0.0:0.1531:0.8469:0.0	.	167	O43745	CHP2_HUMAN	Y	167	ENSP00000300113:D167Y	ENSP00000300113:D167Y	D	+	1	0	AC130454.2	23676107	1.000000	0.71417	0.835000	0.33067	0.988000	0.76386	4.294000	0.59043	1.562000	0.49601	0.655000	0.94253	GAT	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.567	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	protein_coding	OTTHUMT00000254498.1	G	NM_022097	-		23768606	1	no_errors	ENST00000300113	ensembl	human	known	74_37	missense	SNP	0.985	T	T	23768606	G	T	23768606	3	4	21	1	0	0	0	0	1	0	0	0	3369	942	33	3	521	3	CHP2	16	23768606	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	3325973	23768606	66586147	60	1470											
TP53	7157	genome.wustl.edu	37	chr17	7578534	7578541	+	Frame_Shift_Del	DEL	CTTGTTGA	CTTGTTGA	-													ttggccagttggcaaaacatCttgttgagggcaggggagta					rs587782160		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	CTTGTTGA	CTTGTTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr17:7578534_7578541delCTTGTTGA	ENST00000269305.4	-	5	578_585	c.389_396delTCAACAAG	c.(388-396)ctcaacaagfs	p.LNK130fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.LNK130fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.LNK130fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.LNK130fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.LNK130fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.LNK130fs	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	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.K132N(49)|p.K132R(42)|p.K132E(20)|p.K132Q(13)|p.N131del(11)|p.K132M(10)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.N131I(7)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131fs*39(5)|p.L130L(4)|p.K132*(3)|p.L130H(3)|p.K39R(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.N131H(2)|p.L130fs*41(2)|p.K39N(2)|p.N131fs*27(2)|p.N131K(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.N38fs*39(1)|p.S127_Q136del10(1)|p.A129_N131delALN(1)|p.M133fs*16(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.K39E(1)|p.L130_M133delLNKM(1)|p.N131N(1)|p.N38I(1)|p.N131T(1)|p.M133fs*37(1)|p.K39T(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.L130del(1)|p.K132K(1)|p.K132W(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)	GGCAAAACATCTTGTTGAGGGCAGGGGA	0.553		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	247	Substitution - Missense(184)|Deletion - In frame(26)|Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - coding silent(6)|Substitution - Nonsense(3)|Insertion - Frameshift(2)|Complex - frameshift(1)	breast(31)|lung(30)|large_intestine(25)|urinary_tract(25)|ovary(25)|upper_aerodigestive_tract(22)|haematopoietic_and_lymphoid_tissue(18)|central_nervous_system(14)|oesophagus(12)|liver(8)|biliary_tract(7)|pancreas(5)|bone(5)|prostate(4)|skin(3)|stomach(3)|adrenal_gland(3)|endometrium(2)|kidney(2)|cervix(1)|soft_tissue(1)|penis(1)	GRCh37	CM086989|CM973641	TP53	M		ENSG00000141510																																			TP53	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;		HGNC	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.389_396delTCAACAAG	17.37:g.7578534_7578541delCTTGTTGA	ENSP00000269305:p.Leu130fs	Somatic					0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1				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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L130fs	ENST00000269305.4	37	c.396_389	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.553	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	CTTGTTGA	NM_000546			7578541	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.961:0.992	-	-	7578541	CTTGTTGA	-	7578534	7	5	21	1	0	1	0	1	0	0	0	0	16388	912	32	0	902	0	TP53	17	7578534	Frame_Shift_Del	DEL	CTTGTTGA	TCGA-DX-A1KX-01A-22D-A24N-09		7578534	73616676	61	1471											
SLC47A1	55244	genome.wustl.edu	37	chr17	19451359	19451359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggagtgcgctcgtccTgctcctctgctgcttcccct	11	17	1	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr17:19451359T>A	ENST00000270570.4	+	4	454	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	SLC47A1_ENST00000457293.1_Missense_Mutation_p.L123Q|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L123Q|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L100Q|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.L123Q|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000542886.1_Missense_Mutation_p.L123Q	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	123					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCGCTCGTCCTGCTCCTCTGC	0.597																																																	0								ENSG00000142494						139	114	123					17																	19451359		2203	4300	6503	SLC47A1	SO:0001583	missense	0			-	HGNC		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.368T>A	17.37:g.19451359T>A	ENSP00000270570:p.Leu123Gln	Somatic	0	57	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	73	17.05	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP							pfam_MATE,tigrfam_MATE	p.L123Q	ENST00000270570.4	37	c.368	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571918	0.65765	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	H	0.97806	4.08	0.53688	D	0.999971	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.91635	0.999;0.997;0.985;0.985	D	0.83977	0.0330	10	0.87932	D	0	-13.1593	13.8392	0.63428	0.0:0.0:0.0:1.0	.	100;123;123;123	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	Q	100;123;123;123;123	ENSP00000407155:L100Q;ENSP00000270570:L123Q;ENSP00000415586:L123Q;ENSP00000440435:L123Q;ENSP00000378951:L123Q	ENSP00000270570:L123Q	L	+	2	0	SLC47A1	19391951	1.000000	0.71417	0.977000	0.42913	0.261000	0.26267	7.403000	0.79983	1.879000	0.54435	0.379000	0.24179	CTG	-	pfam_MATE,tigrfam_MATE		0.597	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	protein_coding	OTTHUMT00000132250.1	T	NM_018242	-		19451359	1	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19451359	T	A	19451359	3	1	21	1	0	0	0	0	1	0	0	0	14655	1580	55	5	382	5	SLC47A1	17	19451359	Missense_Mutation	SNP	T	TCGA-DX-A1KX-01A-22D-A24N-09	11872825	19451359	61743851	62	1472											
ABHD15	116236	genome.wustl.edu	37	chr17	27889778	27889778	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagatgacctcatggctcCaggctggcaagggctcctgg	13	13	1	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr17:27889778C>T	ENST00000307201.4	-	2	1378	c.1208G>A	c.(1207-1209)tGg>tAg	p.W403*	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	403						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTCATGGCTCCAGGCTGGCAA	0.582																																																	0								ENSG00000168792						52	55	54					17																	27889778		2203	4300	6503	ABHD15	SO:0001587	stop_gained	0			-	HGNC	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1208G>A	17.37:g.27889778C>T	ENSP00000302657:p.Trp403*	Somatic	0	34	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	Q96EC5	Nonsense_Mutation	SNP							pirsf_AB-Hydro_YheT	p.W403*	ENST00000307201.4	37	c.1208	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.566870	0.97671	.	.	ENSG00000168792	ENST00000307201	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5261	18.716	0.91675	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000302657:W403X	W	-	2	0	ABHD15	24913904	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.052000	0.76634	2.779000	0.95612	0.655000	0.94253	TGG	-	pirsf_AB-Hydro_YheT		0.582	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	protein_coding	OTTHUMT00000447796.2	C	NM_198147	-		27889778	-1	no_errors	ENST00000307201	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	27889778	C	T	27889778	4	4	21	1	0	0	0	0	0	1	0	0	81	595	21	2	202	2	ABHD15	17	27889778	Nonsense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	8438419	27889778	53305432	63	1473											
TUBB4	10382	genome.wustl.edu	37	chr19	6495616	6495616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgcacgccgccatcatGttcttggcatcgaacatctg	11	13	3	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:6495616G>A	ENST00000264071.2	-	4	1265	c.894C>T	c.(892-894)aaC>aaT	p.N298N	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.N298N			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	298					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|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)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CCGCCATCATGTTCTTGGCAT	0.677																																																	0								ENSG00000104833						62	59	60					19																	6495616		2203	4298	6501	TUBB4A	SO:0001819	synonymous_variant	0			-	HGNC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.894C>T	19.37:g.6495616G>A		Somatic	0	82	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	111	36.93	B3KQP4|Q969E5	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.N298	ENST00000264071.2	37	c.894	CCDS12168.1	19																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom		0.677	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	protein_coding	OTTHUMT00000457841.1	G	NM_006087	-		6495616	-1	no_errors	ENST00000264071	ensembl	human	known	74_37	silent	SNP	1.000	A	A	6495616	G	A	6495616	2	1	21	1	0	0	0	0	0	0	0	1	16765	1368	48	2		2	TUBB4	19	6495616	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		6495616	52633367	64	1474											
C19orf45	374877	genome.wustl.edu	37	chr19	7570241	7570241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggccacagcccacatcCactgtgtaaatatccgtcct	6	17	0	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:7570241C>A	ENST00000361664.2	+	5	955	c.814C>A	c.(814-816)Cac>Aac	p.H272N	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	272										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						AGCCCACATCCACTGTGTAAA	0.572																																																	0								ENSG00000198723						98	93	95					19																	7570241		2203	4300	6503	C19orf45	SO:0001583	missense	0			-	HGNC	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.814C>A	19.37:g.7570241C>A	ENSP00000355241:p.His272Asn	Somatic	0	54	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	86	8.51	Q8N115	Missense_Mutation	SNP							NULL	p.H272N	ENST00000361664.2	37	c.814	CCDS12179.2	19	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015662	0.35606	.	.	ENSG00000198723	ENST00000361664	T	0.15603	2.41	3.78	1.64	0.23874	.	0.586949	0.17172	N	0.184233	T	0.22003	0.0530	L	0.59436	1.845	0.22511	N	0.999037	D	0.54047	0.964	P	0.51135	0.66	T	0.05699	-1.0869	10	0.44086	T	0.13	-24.2028	6.1281	0.20189	0.0:0.7664:0.0:0.2336	.	272	Q8NA69	CS045_HUMAN	N	272	ENSP00000355241:H272N	ENSP00000355241:H272N	H	+	1	0	C19orf45	7476241	0.003000	0.15002	0.523000	0.27875	0.790000	0.44656	0.080000	0.14802	0.567000	0.29293	0.456000	0.33151	CAC	-	NULL		0.572	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf45	protein_coding	OTTHUMT00000347808.1	C	NM_198534	-		7570241	1	no_errors	ENST00000361664	ensembl	human	known	74_37	missense	SNP	0.635	A	A	7570241	C	A	7570241	3	1	21	1	0	0	0	0	1	0	0	0	1930	594	21	3	828	3	C19orf45	19	7570241	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	1074625	7570241	51558742	65	1475											
KIAA1543	57662	genome.wustl.edu	37	chr19	7676960	7676960	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacaccccgagaccccctcGaaaccatctccctgtctggt	6	20	2	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:7676960G>A	ENST00000160298.4	+	11	1682	c.1581G>A	c.(1579-1581)tcG>tcA	p.S527S	CAMSAP3_ENST00000446248.2_Silent_p.S554S	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	527	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGACCCCCTCGAAACCATCTC	0.667																																																	0								ENSG00000076826						49	57	54					19																	7676960		1994	4149	6143	CAMSAP3	SO:0001819	synonymous_variant	0			-	HGNC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1581G>A	19.37:g.7676960G>A		Somatic	0	55	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	124	11.43	Q8NDF1	Silent	SNP							pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.S554	ENST00000160298.4	37	c.1662	CCDS42489.1	19																																																																																			-	NULL		0.667	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	protein_coding	OTTHUMT00000459300.1	G	XM_048362	-		7676960	1	no_errors	ENST00000446248	ensembl	human	known	74_37	silent	SNP	0.003	A	A	7676960	G	A	7676960	2	1	21	1	0	0	0	0	0	0	0	1	8245	1045	37	1		1	KIAA1543	19	7676960	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	106719	7676960	51452023	66	1476											
MAP4K1	11184	genome.wustl.edu	37	chr19	39100635	39100635	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatccaggatcaggcctcGattcagcccaggctgggata	12	11	2	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:39100635G>A	ENST00000591517.1	-	12	869	c.841C>T	c.(841-843)Cga>Tga	p.R281*	MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.R281*|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.R277*|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Nonsense_Mutation_p.R281*	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	281					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R281R(2)|p.R281*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCAGGCCTCGATTCAGCCCA	0.577																																																	4	Substitution - Nonsense(2)|Substitution - coding silent(2)	lung(2)|breast(2)						ENSG00000104814						61	61	61					19																	39100635		1931	4140	6071	MAP4K1	SO:0001587	stop_gained	0			-	HGNC	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.841C>T	19.37:g.39100635G>A	ENSP00000465039:p.Arg281*	Somatic	0	56	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	44	48.84		Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R281*	ENST00000591517.1	37	c.841	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	.	33	5.227114	0.95173	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	.	.	.	4.19	0.503	0.16940	.	0.228677	0.34025	N	0.004336	.	.	.	.	.	.	0.22888	N	0.998607	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8264	0.29318	0.0:0.0978:0.6025:0.2997	.	.	.	.	X	281	.	ENSP00000221409:R281X	R	-	1	2	MAP4K1	43792475	0.000000	0.05858	0.902000	0.35471	0.934000	0.57294	-0.213000	0.09305	0.245000	0.21373	-0.397000	0.06425	CGA	-	superfamily_Kinase-like_dom		0.577	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	protein_coding	OTTHUMT00000453390.1	G	NM_001042600	-		39100635	-1	no_errors	ENST00000591517	ensembl	human	known	74_37	nonsense	SNP	0.005	A	A	39100635	G	A	39100635	4	1	21	1	0	0	0	0	0	1	0	0	9261	1066	37	1	1806	1	MAP4K1	19	39100635	Nonsense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	31423675	39100635	20028348	67	1477											
GRIK5	2901	genome.wustl.edu	37	chr19	42510901	42510901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacctccatgcgctgcaCggtgaggaaggcggccaggt	16	12	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:42510901C>T	ENST00000262895.3	-	15	1932	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	GRIK5_ENST00000301218.4_Missense_Mutation_p.V645M|GRIK5_ENST00000593562.1_Missense_Mutation_p.V645M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	645					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)	p.V645M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ATGCGCTGCACGGTGAGGAAG	0.617																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000105737						71	56	61					19																	42510901		2203	4300	6503	GRIK5	SO:0001583	missense	0			-	HGNC		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1933G>A	19.37:g.42510901C>T	ENSP00000262895:p.Val645Met	Somatic	0	82	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	112	13.85	Q8WWG8	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V645M	ENST00000262895.3	37	c.1933	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.735270|4.735270	0.89482|0.89482	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.58940	.|0.3;0.3	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80454|0.80454	0.4626|0.4626	M|M	0.89030|0.89030	3|3	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.84592|0.84592	0.0667|0.0667	5|10	.|0.87932	.|D	.|0	.|.	17.4594|17.4594	0.87616|0.87616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|645	.|Q16478	.|GRIK5_HUMAN	H|M	21|645	.|ENSP00000262895:V645M;ENSP00000301218:V645M	.|ENSP00000262895:V645M	R|V	-|-	2|1	0|0	GRIK5|GRIK5	47202741|47202741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.805000|7.805000	0.86005|0.86005	2.419000|2.419000	0.82065|0.82065	0.563000|0.563000	0.77884|0.77884	CGT|GTG	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt		0.617	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	protein_coding	OTTHUMT00000463453.1	C		-		42510901	-1	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42510901	C	T	42510901	3	4	21	1	0	0	0	0	1	0	0	0	6779	536	19	1	1029	1	GRIK5	19	42510901	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	3410266	42510901	16618082	68	1478											
SIGLEC8	27181	genome.wustl.edu	37	chr19	51958862	51958862	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcctggcagggggattGctgttgacagcacagaccag	14	11	1	2	rs370819359		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:51958862G>C	ENST00000321424.3	-	4	927	c.861C>G	c.(859-861)agC>agG	p.S287R	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S178R|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S194R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	287	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGGGGATTGCTGTTGACAG	0.622																																																	0								ENSG00000105366						67	66	67					19																	51958862		2203	4300	6503	SIGLEC8	SO:0001583	missense	0			-	HGNC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.861C>G	19.37:g.51958862G>C	ENSP00000321077:p.Ser287Arg	Somatic	0	46	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	13.33	Q7Z728	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S287R	ENST00000321424.3	37	c.861	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	14.49	2.549573	0.45383	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.24151	1.87;1.87;1.87	2.19	1.11	0.20524	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45126	D	0.000390	T	0.54902	0.1887	H	0.95328	3.655	0.22787	N	0.998734	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	T	0.45145	-0.9281	10	0.87932	D	0	.	4.9785	0.14153	0.1818:0.0:0.8182:0.0	.	178;194;287	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	R	178;287;194	ENSP00000389142:S178R;ENSP00000321077:S287R;ENSP00000339448:S194R	ENSP00000321077:S287R	S	-	3	2	SIGLEC8	56650674	0.993000	0.37304	0.474000	0.27266	0.241000	0.25554	1.366000	0.34193	0.473000	0.27368	0.502000	0.49764	AGC	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.622	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	protein_coding	OTTHUMT00000463648.2	G	NM_014442	-		51958862	-1	no_errors	ENST00000321424	ensembl	human	known	74_37	missense	SNP	0.583	C	C	51958862	G	C	51958862	3	2	21	1	0	0	0	0	1	0	0	0	14322	1310	46	4	654	4	SIGLEC8	19	51958862	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	9447961	51958862	7170121	69	1479											
NLRP8	126205	genome.wustl.edu	37	chr19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgccacctctgtgttcGtccggtatatttctagcttg	8	11	2	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V428I(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)		CTCTGTGTTCGTCCGGTATAT	0.498																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000179709						88	90	90					19																	56466706		2203	4300	6503	NLRP8	SO:0001583	missense	0			-	HGNC	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.1282G>A	19.37:g.56466706G>A	ENSP00000291971:p.Val428Ile	Somatic	0	30	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q7RTR4	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V428I	ENST00000291971.3	37	c.1282	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	2.360	-0.346884	0.05208	.	.	ENSG00000179709	ENST00000291971	D	0.83419	-1.72	1.78	-1.96	0.07525	.	.	.	.	.	T	0.63628	0.2527	L	0.27053	0.805	0.09310	N	1	P;P	0.47762	0.9;0.573	B;B	0.35278	0.199;0.177	T	0.56553	-0.7960	9	0.29301	T	0.29	.	5.2449	0.15490	0.6082:0.0:0.3918:0.0	.	428;428	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	428	ENSP00000291971:V428I	ENSP00000291971:V428I	V	+	1	0	NLRP8	61158518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.089000	0.15002	-0.472000	0.06881	-0.346000	0.07831	GTC	-	NULL		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811	-		56466706	1	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	SNP	0.037	A	A	56466706	G	A	56466706	3	1	21	1	0	0	0	0	1	0	0	0	10485	1145	40	1	1292	1	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	4507844	56466706	2662277	70	1480											
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56703353	56703353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatcatctctgacactggCgggggcttcagccatctcga	12	13	4	1	rs201505305		TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr19:56703353C>T	ENST00000586855.2	-	3	767	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A152T			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	152					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.A152T(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGACACTGGCGGGGGCTTCA	0.532													C|||	1	0.000199681	0	0	5008	,	,		14105	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	stomach(1)						ENSG00000197213																																			ZSCAN5B	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.454G>A	19.37:g.56703353C>T	ENSP00000466072:p.Ala152Thr	Somatic	0	54	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	117	12.69		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A152T	ENST00000586855.2	37	c.454	CCDS46203.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.580	0.291800	0.10567	.	.	ENSG00000197213	ENST00000358992	T	0.05580	3.42	1.28	0.197	0.15164	.	.	.	.	.	T	0.05410	0.0143	L	0.49126	1.545	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45629	-0.9248	9	0.17832	T	0.49	.	3.3799	0.07251	0.0:0.7172:0.0:0.2828	.	152	A6NJL1	ZSA5B_HUMAN	T	152	ENSP00000351883:A152T	ENSP00000351883:A152T	A	-	1	0	ZSCAN5B	61395165	0.001000	0.12720	0.000000	0.03702	0.111000	0.19643	0.527000	0.22987	0.116000	0.18110	0.306000	0.20318	GCC	-	NULL		0.532	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	protein_coding	OTTHUMT00000457834.2	C	NM_001080456	rs201505305		56703353	-1	no_errors	ENST00000358992	ensembl	human	known	74_37	missense	SNP	0.001	T	T	56703353	C	T	56703353	3	4	21	1	0	0	0	0	1	0	0	0	18246	768	27	1	1045	1	ZSCAN5B	19	56703353	Missense_Mutation	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09	236647	56703353	2425630	71	1481											
C20orf103	24141	genome.wustl.edu	37	chr20	9498740	9498740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttggtcacccccgctGggaagtcctatgagtgtcaa	11	13	2	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr20:9498740G>A	ENST00000246070.2	+	5	1021	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	LAMP5_ENST00000427562.2_Missense_Mutation_p.G133R	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	177						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CACCCCCGCTGGGAAGTCCTA	0.537																																																	0								ENSG00000125869						115	91	99					20																	9498740		2203	4300	6503	LAMP5	SO:0001583	missense	0			-	HGNC	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.529G>A	20.37:g.9498740G>A	ENSP00000246070:p.Gly177Arg	Somatic	0	67	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	110	24	82.09	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP							pfam_Lysosome-assoc_membr_glycop	p.G177R	ENST00000246070.2	37	c.529	CCDS13106.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.334388	0.95758	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.40756	1.02;1.02	5.93	5.93	0.95920	.	0.145167	0.64402	N	0.000008	T	0.54967	0.1891	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.79108	0.817;0.992	T	0.44787	-0.9305	9	.	.	.	-19.3476	20.3539	0.98825	0.0:0.0:1.0:0.0	.	133;177	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	R	177;133	ENSP00000246070:G177R;ENSP00000406360:G133R	.	G	+	1	0	C20orf103	9446740	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.308000	0.96247	2.826000	0.97356	0.655000	0.94253	GGG	-	pfam_Lysosome-assoc_membr_glycop		0.537	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP5	protein_coding	OTTHUMT00000077946.2	G	NM_012261	-		9498740	1	no_errors	ENST00000246070	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9498740	G	A	9498740	3	1	21	1	0	0	0	0	1	0	0	0	2077	1348	47	2	547	2	C20orf103	20	9498740	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		9498740	53526780	72	1482											
PCSK2	5126	genome.wustl.edu	37	chr20	17462530	17462530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggatttgtcggcagcGccccgcagaagggggtgctg	18	10	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr20:17462530G>A	ENST00000262545.2	+	12	2047	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	PCSK2_ENST00000377899.1_Missense_Mutation_p.A559T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A543T|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	578					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGTCGGCAGCGCCCCGCAGAA	0.617																																																	0								ENSG00000125851						34	35	35					20																	17462530		2203	4300	6503	PCSK2	SO:0001583	missense	0			-	HGNC	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1732G>A	20.37:g.17462530G>A	ENSP00000262545:p.Ala578Thr	Somatic	0	27	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	66	20.48	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.A578T	ENST00000262545.2	37	c.1732	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	7.674	0.687581	0.14973	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.76709	-1.04;-1.04;-1.04	5.63	-3.21	0.05140	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.588945	0.20101	N	0.099225	T	0.48502	0.1503	N	0.11845	0.185	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.36504	-0.9745	10	0.12103	T	0.63	-3.3723	4.5817	0.12262	0.4339:0.0:0.3302:0.2359	.	543;559;578	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	T	559;578;543	ENSP00000367131:A559T;ENSP00000262545:A578T;ENSP00000437458:A543T	ENSP00000262545:A578T	A	+	1	0	PCSK2	17410530	0.000000	0.05858	0.005000	0.12908	0.699000	0.40488	-0.309000	0.08145	-0.366000	0.08064	-0.224000	0.12420	GCC	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like		0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	protein_coding	OTTHUMT00000078120.2	G	NM_002594	-		17462530	1	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	SNP	0.001	A	A	17462530	G	A	17462530	3	1	21	1	0	0	0	0	1	0	0	0	11603	1087	38	1	1778	1	PCSK2	20	17462530	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	7963790	17462530	45562990	73	1483											
SYCP2	10388	genome.wustl.edu	37	chr20	58467461	58467461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgatttttgtttagtaaGttttttatttataacaatat	6	1	0	1			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr20:58467461G>A	ENST00000357552.3	-	24	2173	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L650F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	650					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGTTTAGTAAGTTTTTTATTT	0.229																																																	0								ENSG00000196074						30	31	31					20																	58467461		2194	4274	6468	SYCP2	SO:0001583	missense	0			-	HGNC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1948C>T	20.37:g.58467461G>A	ENSP00000350162:p.Leu650Phe	Somatic	0	45	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	78	9.20	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP							NULL	p.L650F	ENST00000357552.3	37	c.1948	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785857	0.00628	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.19250	2.42;2.42;2.16	5.23	-2.4	0.06583	.	1.353670	0.04566	N	0.392378	T	0.14830	0.0358	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28839	-1.0031	10	0.17832	T	0.49	0.4566	4.9738	0.14129	0.3475:0.36:0.2925:0.0	.	650	Q9BX26	SYCP2_HUMAN	F	650	ENSP00000360040:L650F;ENSP00000350162:L650F;ENSP00000402456:L650F	ENSP00000350162:L650F	L	-	1	0	SYCP2	57900856	0.000000	0.05858	0.001000	0.08648	0.176000	0.22953	-0.182000	0.09726	-0.119000	0.11830	-0.274000	0.10170	CTT	-	NULL		0.229	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	G	NM_014258	-		58467461	-1	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58467461	G	A	58467461	3	1	21	1	0	0	0	0	1	0	0	0	15439	1029	36	2	2732	2	SYCP2	20	58467461	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	41004931	58467461	4558059	74	1484											
CBR3	874	genome.wustl.edu	37	chr21	37518520	37518520	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtggaggacacaaaaaatGaggtgcatgagagggaaggc	16	4	0	2			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr21:37518520G>T	ENST00000290354.5	+	3	825	c.544G>T	c.(544-546)Gag>Tag	p.E182*	CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	182					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	CACAAAAAATGAGGTGCATGA	0.512																																																	0								ENSG00000159231						94	83	87					21																	37518520		2203	4300	6503	CBR3	SO:0001587	stop_gained	0			-	HGNC	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.544G>T	21.37:g.37518520G>T	ENSP00000290354:p.Glu182*	Somatic	0	52	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	Q6FHP2	Nonsense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.E182*	ENST00000290354.5	37	c.544	CCDS13642.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.589675	0.97688	.	.	ENSG00000159231	ENST00000290354	.	.	.	4.77	4.77	0.60923	.	0.203451	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	2.0E-4	11.8845	0.52594	0.0914:0.0:0.9086:0.0	.	.	.	.	X	182	.	ENSP00000290354:E182X	E	+	1	0	CBR3	36440390	1.000000	0.71417	0.569000	0.28460	0.996000	0.88848	5.048000	0.64238	2.490000	0.84030	0.561000	0.74099	GAG	-	NULL		0.512	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3	protein_coding	OTTHUMT00000194632.1	G		-		37518520	1	no_errors	ENST00000290354	ensembl	human	known	74_37	nonsense	SNP	0.994	T	T	37518520	G	T	37518520	4	4	21	1	0	0	0	0	0	1	0	0	2711	1291	45	3	554	3	CBR3	21	37518520	Nonsense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		37518520	10611375	75	1485											
ZNF295	49854	genome.wustl.edu	37	chr21	43412114	43412114	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaactttatttactccaagGggtttttctcctggatgcat	8	9	1	0			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr21:43412114G>T	ENST00000310826.5	-	3	2274	c.2091C>A	c.(2089-2091)ccC>ccA	p.P697P	ZBTB21_ENST00000398511.3_Silent_p.P697P|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.P697P|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	697					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TTACTCCAAGGGGTTTTTCTC	0.433																																																	0								ENSG00000173276						133	156	148					21																	43412114		2203	4300	6503	ZBTB21	SO:0001819	synonymous_variant	0			-	HGNC	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2091C>A	21.37:g.43412114G>T		Somatic	0	53	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P697	ENST00000310826.5	37	c.2091	CCDS13678.1	21																																																																																			-	pfscan_Znf_C2H2		0.433	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB21	protein_coding	OTTHUMT00000195308.1	G	NM_020727	-		43412114	-1	no_errors	ENST00000310826	ensembl	human	known	74_37	silent	SNP	0.019	T	T	43412114	G	T	43412114	2	4	21	1	0	0	0	0	0	0	0	1	17834	1219	43	3		3	ZNF295	21	43412114	Silent	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09	5893594	43412114	4717781	76	1486											
EP300	2033	genome.wustl.edu	37	chr22	41513219	41513219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctatttgacttggagcaCgacttaccagatgaattaat	7	8	1	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chr22:41513219C>T	ENST00000263253.7	+	2	1342	c.123C>T	c.(121-123)caC>caT	p.H41H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	41	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTTGGAGCACGACTTACCAG	0.368			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0								ENSG00000100393						72	72	72					22																	41513219		2203	4300	6503	EP300	SO:0001819	synonymous_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	-	HGNC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.123C>T	22.37:g.41513219C>T		Somatic	0	24	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	B1AKC2	Silent	SNP							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.H41	ENST00000263253.7	37	c.123	CCDS14010.1	22																																																																																			-	NULL		0.368	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	C	NM_001429	-		41513219	1	no_errors	ENST00000263253	ensembl	human	known	74_37	silent	SNP	0.905	T	T	41513219	C	T	41513219	2	4	21	1	0	0	0	0	0	0	0	1	5150	535	19	1		1	EP300	22	41513219	Silent	SNP	C	TCGA-DX-A1KX-01A-22D-A24N-09		41513219	9791347	77	1487											
MUM1L1	139221	genome.wustl.edu	37	chrX	105450724	105450724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaacatgaattctgaaaaGaagggcattagagtaaattt	9	4	1	4			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chrX:105450724G>T	ENST00000357175.2	+	4	1948	c.1299G>T	c.(1297-1299)aaG>aaT	p.K433N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.K433N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K433N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	433	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTCTGAAAAGAAGGGCATTA	0.348																																																	0								ENSG00000157502						43	39	40					X																	105450724		1816	4068	5884	MUM1L1	SO:0001583	missense	0			-	HGNC	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1299G>T	X.37:g.105450724G>T	ENSP00000349699:p.Lys433Asn	Somatic	0	55	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP							superfamily_PyrdxlP-dep_Trfase	p.K433N	ENST00000357175.2	37	c.1299	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866471	0.32977	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.69435	-0.4;-0.4;-0.4	4.31	1.5	0.22942	.	0.224250	0.30969	N	0.008505	T	0.53433	0.1796	L	0.47716	1.5	0.34370	D	0.691927	B	0.25272	0.122	B	0.29663	0.105	T	0.52503	-0.8567	10	0.45353	T	0.12	-8.6411	3.7717	0.08645	0.2322:0.2:0.5677:0.0	.	433	Q5H9M0	MUML1_HUMAN	N	433	ENSP00000349699:K433N;ENSP00000338641:K433N;ENSP00000361632:K433N	ENSP00000338641:K433N	K	+	3	2	MUM1L1	105337380	0.998000	0.40836	0.995000	0.50966	0.930000	0.56654	0.386000	0.20702	0.179000	0.19938	0.529000	0.55759	AAG	-	NULL		0.348	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	protein_coding	OTTHUMT00000057795.1	G	NM_152423	-		105450724	1	no_errors	ENST00000337685	ensembl	human	known	74_37	missense	SNP	0.994	T	T	105450724	G	T	105450724	3	4	21	1	0	0	0	0	1	0	0	0	9988	933	33	3	1301	3	MUM1L1	23	105450724	Missense_Mutation	SNP	G	TCGA-DX-A1KX-01A-22D-A24N-09		105450724	49819836	78	1488											
AFF2	2334	genome.wustl.edu	37	chrX	148048590	148048590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactaatgtccggagacccAagctcacttttgatgactcg	9	12	1	3			TCGA-DX-A1KX-01A-22D-A24N-09	TCGA-DX-A1KX-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cbe535-6a91-4fb0-b28b-ef53c6973ad3	8801eb57-9164-4a96-bdfb-86f9fb5ec828	g.chrX:148048590A>G	ENST00000370460.2	+	14	3663	c.3184A>G	c.(3184-3186)Aag>Gag	p.K1062E	AFF2_ENST00000342251.3_Missense_Mutation_p.K1029E|AFF2_ENST00000286437.5_Missense_Mutation_p.K703E|AFF2_ENST00000370457.5_Missense_Mutation_p.K1027E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1062					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)			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)					CCGGAGACCCAAGCTCACTTT	0.522																																																	0								ENSG00000155966						194	162	173					X																	148048590		2203	4300	6503	AFF2	SO:0001583	missense	0			-	HGNC	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.3184A>G	X.37:g.148048590A>G	ENSP00000359489:p.Lys1062Glu	Somatic	0	44	0		0.662968492690306				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	60	15.49	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.K1062E	ENST00000370460.2	37	c.3184	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995151	0.74703	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.57	4.35	0.52113	.	0.226724	0.35349	N	0.003266	T	0.80037	0.4550	M	0.79693	2.465	0.42082	D	0.991251	P;D;P;D;D;D	0.67145	0.953;0.989;0.947;0.995;0.995;0.996	P;D;P;P;P;D	0.66084	0.782;0.941;0.832;0.894;0.894;0.936	T	0.82424	-0.0464	10	0.52906	T	0.07	.	12.663	0.56824	0.8535:0.1465:0.0:0.0	.	703;1027;1027;1023;1052;1062	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	E	1062;1027;1029;703	ENSP00000359489:K1062E;ENSP00000359486:K1027E;ENSP00000345459:K1029E;ENSP00000286437:K703E	ENSP00000286437:K703E	K	+	1	0	AFF2	147856284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.270000	0.72563	1.860000	0.53959	0.417000	0.27973	AAG	-	pfam_TF_AF4/FMR2		0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	A	NM_002025	-		148048590	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	1.000	G	G	148048590	A	G	148048590	3	3	21	1	0	0	0	0	1	0	0	0	357	131	5	5	3293	5	AFF2	23	148048590	Missense_Mutation	SNP	A	TCGA-DX-A1KX-01A-22D-A24N-09	42597866	148048590	7221970	79	1489											
CAMTA1	23261	genome.wustl.edu	37	chr1	7805021	7805021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaccattagcagtacaAtgagctggctggccagttat	10	11	0	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:7805021A>G	ENST00000303635.7	+	17	4516	c.4309A>G	c.(4309-4311)Atg>Gtg	p.M1437V	CAMTA1_ENST00000476864.1_Start_Codon_SNP_p.M1V|CAMTA1_ENST00000439411.2_Missense_Mutation_p.M1437V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		TAGCAGTACAATGAGCTGGCT	0.512			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								ENSG00000171735						118	103	108					1																	7805021		2203	4300	6503	CAMTA1	SO:0001583	missense	0			-	HGNC	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.4309A>G	1.37:g.7805021A>G	ENSP00000306522:p.Met1437Val	Somatic	0	49	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP							pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.M1437V	ENST00000303635.7	37	c.4309	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314470	0.60524	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.55413	2.04;1.85;0.52	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	L	0.52126	1.63	0.58432	D	0.999999	P;P;D;P	0.61080	0.459;0.865;0.989;0.534	B;P;D;P	0.74348	0.058;0.824;0.983;0.621	T	0.67273	-0.5712	10	0.48119	T	0.1	-24.6153	15.4947	0.75641	1.0:0.0:0.0:0.0	.	1437;500;393;1437	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	V	1437;1437;500;393;1	ENSP00000306522:M1437V;ENSP00000402561:M1437V;ENSP00000452319:M1V	ENSP00000306522:M1437V	M	+	1	0	CAMTA1	7727608	1.000000	0.71417	0.910000	0.35882	0.908000	0.53690	9.007000	0.93597	2.062000	0.61559	0.533000	0.62120	ATG	-	NULL		0.512	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	A	NM_015215	-		7805021	1	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7805021	A	G	7805021	3	3	22	1	0	0	0	0	1	0	0	0	2615	101	4	5	4375	5	CAMTA1	1	7805021	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09		7805021	241445600	1	1490											
EPHA8	2046	genome.wustl.edu	37	chr1	22925406	22925406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggcatgcgctacctcTcagacctgggctatgtccac	11	15	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:22925406T>C	ENST00000166244.3	+	13	2326	c.2254T>C	c.(2254-2256)Tca>Cca	p.S752P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		GCGCTACCTCTCAGACCTGGG	0.627																																																	0								ENSG00000070886						71	59	63					1																	22925406		2202	4300	6502	EPHA8	SO:0001583	missense	0			-	HGNC	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.2254T>C	1.37:g.22925406T>C	ENSP00000166244:p.Ser752Pro	Somatic	0	77	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	37.50	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S752P	ENST00000166244.3	37	c.2254	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765411	0.69878	.	.	ENSG00000070886	ENST00000166244	T	0.62498	0.02	4.21	3.05	0.35203	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074223	0.56097	D	0.000032	T	0.73705	0.3621	M	0.76727	2.345	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.75156	-0.3417	10	0.87932	D	0	.	10.0649	0.42297	0.0:0.0:0.1696:0.8304	.	752	P29322	EPHA8_HUMAN	P	752	ENSP00000166244:S752P	ENSP00000166244:S752P	S	+	1	0	EPHA8	22797993	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	3.213000	0.51153	0.742000	0.32697	0.454000	0.30748	TCA	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.627	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	T	NM_020526	-		22925406	1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	SNP	1.000	C	C	22925406	T	C	22925406	3	2	22	1	0	0	0	0	1	0	0	0	5175	1551	54	5	2477	5	EPHA8	1	22925406	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	15120385	22925406	226325215	2	1491											
CELSR2	1952	genome.wustl.edu	37	chr1	109804139	109804139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaactcctgttcaggtttGccacaaaggagcgcgacggg	12	13	1	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:109804139G>A	ENST00000271332.3	+	4	4247	c.4186G>A	c.(4186-4188)Gcc>Acc	p.A1396T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1396	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTCAGGTTTGCCACAAAGGA	0.602																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						114	111	112					1																	109804139		2203	4300	6503	CELSR2	SO:0001583	missense	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4186G>A	1.37:g.109804139G>A	ENSP00000271332:p.Ala1396Thr	Somatic	0	82	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	Q5T2Y7|Q92566	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A1396T	ENST00000271332.3	37	c.4186	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886522	0.91814	.	.	ENSG00000143126	ENST00000271332	T	0.79247	-1.25	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79263	0.4416	L	0.55990	1.75	0.53005	D	0.999967	P	0.49307	0.922	P	0.58577	0.841	T	0.80504	-0.1353	9	0.56958	D	0.05	.	13.8745	0.63645	0.0754:0.0:0.9246:0.0	.	1396	Q9HCU4	CELR2_HUMAN	T	1396	ENSP00000271332:A1396T	ENSP00000271332:A1396T	A	+	1	0	CELSR2	109605662	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.379000	0.59575	2.598000	0.87819	0.462000	0.41574	GCC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.602	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	G	NM_001408	-		109804139	1	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	SNP	1.000	A	A	109804139	G	A	109804139	3	1	22	1	0	0	0	0	1	0	0	0	3224	1319	46	2	4200	2	CELSR2	1	109804139	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	86878733	109804139	139446482	3	1492											
ADORA3	140	genome.wustl.edu	37	chr1	112045735	112045735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcataaaaaggcagctgTagaagtggattgtgatgccc	12	6	1	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:112045735T>C	ENST00000241356.4	-	1	647	c.242A>G	c.(241-243)tAc>tGc	p.Y81C	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.Y81C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	81					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AAGGCAGCTGTAGAAGTGGAT	0.507																																																	0								ENSG00000121933						91	68	76					1																	112045735		2203	4300	6503	ADORA3	SO:0001583	missense	0			-	HGNC	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.242A>G	1.37:g.112045735T>C	ENSP00000241356:p.Tyr81Cys	Somatic	0	74	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.Y81C	ENST00000241356.4	37	c.242	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.366164	0.61513	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.72051	-0.62;-0.62	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.177903	0.27486	N	0.019143	T	0.79003	0.4373	M	0.72576	2.205	0.38190	D	0.939874	D;D	0.89917	1.0;0.994	D;D	0.73380	0.943;0.98	T	0.81775	-0.0778	10	0.56958	D	0.05	-13.4802	15.1188	0.72426	0.0:0.0:0.0:1.0	.	81;81	P33765;P33765-2	AA3R_HUMAN;.	C	81	ENSP00000358730:Y81C;ENSP00000241356:Y81C	ENSP00000241356:Y81C	Y	-	2	0	ADORA3	111847258	1.000000	0.71417	0.389000	0.26208	0.916000	0.54674	5.936000	0.70153	2.112000	0.64535	0.459000	0.35465	TAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.507	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	protein_coding	OTTHUMT00000033065.1	T	NM_000677, NM_020683	-		112045735	-1	no_errors	ENST00000369716	ensembl	human	known	74_37	missense	SNP	0.992	C	C	112045735	T	C	112045735	3	2	22	1	0	0	0	0	1	0	0	0	329	1638	57	5	1436	5	ADORA3	1	112045735	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	2241596	112045735	137204886	4	1493											
TCHHL1	126637	genome.wustl.edu	37	chr1	152059914	152059914	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaagataacagaggtTcaacaagttgaagattgcaa	9	5	2	4			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:152059914T>A	ENST00000368806.1	-	3	308	c.244A>T	c.(244-246)Aac>Tac	p.N82Y		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	82	EF-hand.						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)			TAACAGAGGTTCAACAAGTTG	0.358																																																	0								ENSG00000182898						103	95	98					1																	152059914		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.244A>T	1.37:g.152059914T>A	ENSP00000357796:p.Asn82Tyr	Somatic	0	83	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	134	10.07	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.N82Y	ENST00000368806.1	37	c.244	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	17.50	3.404324	0.62288	.	.	ENSG00000182898	ENST00000368806	T	0.14022	2.54	5.26	5.26	0.73747	EF-hand-like domain (1);	0.000000	0.42548	D	0.000699	T	0.15392	0.0371	L	0.34521	1.04	0.40465	D	0.980289	D	0.89917	1.0	D	0.70227	0.968	T	0.01951	-1.1241	10	0.56958	D	0.05	-8.5497	11.5491	0.50711	0.0:0.0:0.0:1.0	.	82	Q5QJ38	TCHL1_HUMAN	Y	82	ENSP00000357796:N82Y	ENSP00000357796:N82Y	N	-	1	0	TCHHL1	150326538	0.937000	0.31787	0.733000	0.30861	0.770000	0.43624	2.380000	0.44327	1.983000	0.57843	0.247000	0.18012	AAC	-	NULL		0.358	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	T	XM_060104	-		152059914	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.974	A	A	152059914	T	A	152059914	3	1	22	1	0	0	0	0	1	0	0	0	15708	1783	62	5	2474	5	TCHHL1	1	152059914	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	40014179	152059914	97190707	5	1494											
MNDA	4332	genome.wustl.edu	37	chr1	158813136	158813136	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggaagaagtgggtctTgcggcacctgcacccaccgc	12	14	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:158813136T>G	ENST00000368141.4	+	3	594	c.333T>G	c.(331-333)ctT>ctG	p.L111L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	111					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)					AAGTGGGTCTTGCGGCACCTG	0.443																																																	0								ENSG00000163563						49	47	48					1																	158813136		2203	4300	6503	MNDA	SO:0001819	synonymous_variant	0			-	HGNC	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.333T>G	1.37:g.158813136T>G		Somatic	0	31	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29		Silent	SNP							pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.L111	ENST00000368141.4	37	c.333	CCDS1177.1	1																																																																																			-	NULL		0.443	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	protein_coding	OTTHUMT00000059069.1	T	NM_002432	-		158813136	1	no_errors	ENST00000368141	ensembl	human	known	74_37	silent	SNP	0.001	G	G	158813136	T	G	158813136	2	3	22	1	0	0	0	0	0	0	0	1	9678	1799	63	5		5	MNDA	1	158813136	Silent	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	6753222	158813136	90437485	6	1495											
SMG7	9887	genome.wustl.edu	37	chr1	183520047	183520047	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcagatcggtggaaaactGataagccaggtgagatctac	12	8	1	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:183520047G>C	ENST00000347615.2	+	20	3264	c.3145G>C	c.(3145-3147)Gat>Cat	p.D1049H	SMG7_ENST00000456731.2_Missense_Mutation_p.D961H|SMG7_ENST00000367537.3_Missense_Mutation_p.D1082H|SMG7_ENST00000508461.1_Missense_Mutation_p.D1057H|SMG7_ENST00000507469.1_Missense_Mutation_p.D1053H|SMG7_ENST00000515829.2_Missense_Mutation_p.D1003H	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1049					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GTGGAAAACTGATAAGCCAGG	0.438																																																	0								ENSG00000116698						78	77	77					1																	183520047		2203	4300	6503	SMG7	SO:0001583	missense	0			-	HGNC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3145G>C	1.37:g.183520047G>C	ENSP00000340766:p.Asp1049His	Somatic	0	56	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	95	8.65	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP							pfam_EST1	p.D1053H	ENST00000347615.2	37	c.3157	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715284	0.89112	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.25414	1.86;1.85;1.8;1.85;1.84;1.85	5.34	5.34	0.76211	.	0.153413	0.56097	D	0.000025	T	0.35537	0.0935	N	0.24115	0.695	0.58432	D	0.999996	D;D;P;D;D	0.60575	0.966;0.966;0.95;0.966;0.988	P;P;P;P;P	0.58577	0.751;0.751;0.824;0.751;0.841	T	0.16571	-1.0398	10	0.72032	D	0.01	-13.4611	19.4085	0.94658	0.0:0.0:1.0:0.0	.	1057;961;1003;1049;1053	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	H	961;1082;1057;1049;1053;1003	ENSP00000407629:D961H;ENSP00000356507:D1082H;ENSP00000426915:D1057H;ENSP00000340766:D1049H;ENSP00000425133:D1053H;ENSP00000421358:D1003H	ENSP00000340766:D1049H	D	+	1	0	SMG7	181786670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.100000	0.76989	2.637000	0.89404	0.650000	0.86243	GAT	-	NULL		0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	G	NM_014837	-		183520047	1	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	SNP	1.000	C	C	183520047	G	C	183520047	3	2	22	1	0	0	0	0	1	0	0	0	14806	1290	45	4	3377	4	SMG7	1	183520047	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	24706911	183520047	65730574	7	1496											
IGFN1	91156	genome.wustl.edu	37	chr1	201175746	201175746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggactggggagcagcagGgaaggaaaggagcacagagg	21	5	0	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:201175746G>T	ENST00000335211.4	+	12	1855	c.1725G>T	c.(1723-1725)agG>agT	p.R575S	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGCAGCAGGGAAGGAAAGG	0.602																																																	0								ENSG00000163395						56	62	60					1																	201175746		692	1591	2283	IGFN1	SO:0001583	missense	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1725G>T	1.37:g.201175746G>T	ENSP00000334714:p.Arg575Ser	Somatic	0	34	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	F8WAI1|Q9NT72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R575S	ENST00000335211.4	37	c.1725	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958928	0.53400	.	.	ENSG00000163395	ENST00000335211	T	0.51574	0.7	4.82	3.9	0.45041	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.05550	-1.0878	6	.	.	.	.	8.2366	0.31629	0.1139:0.0:0.8861:0.0	.	.	.	.	S	575	ENSP00000334714:R575S	.	R	+	3	2	IGFN1	199442369	0.723000	0.28027	0.580000	0.28601	0.172000	0.22775	1.275000	0.33144	0.987000	0.38709	0.655000	0.94253	AGG	-	NULL		0.602	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		G	NM_178275	-		201175746	1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	0.947	T	T	201175746	G	T	201175746	3	4	22	1	0	0	0	0	1	0	0	0	7592	1223	43	3	1767	3	IGFN1	1	201175746	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	17655699	201175746	48074875	8	1497											
MARK1	4139	genome.wustl.edu	37	chr1	220825491	220825491	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgaagcttaccggcctGggtaatgtgttggttacatc	12	9	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:220825491G>A	ENST00000366917.4	+	15	2001	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	MARK1_ENST00000402574.1_Splice_Site_p.G444S|MARK1_ENST00000366918.4_Splice_Site_p.G557S					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTACCGGCCTGGGTAATGTGT	0.428																																																	0								ENSG00000116141						115	108	110					1																	220825491		2203	4300	6503	MARK1	SO:0001630	splice_region_variant	0			-	HGNC	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1736+1G>A	1.37:g.220825491G>A		Somatic	0	63	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.G579S	ENST00000366917.4	37	c.1735	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163771	0.21538	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.27402	1.67;1.67;1.67	5.74	3.88	0.44766	.	0.543405	0.20470	N	0.091706	T	0.10637	0.0260	N	0.03194	-0.395	0.35344	D	0.786768	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.23190	-1.0195	10	0.02654	T	1	.	7.4892	0.27452	0.3546:0.0:0.6454:0.0	.	579;444;579;557	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	S	444;557;579	ENSP00000386017:G444S;ENSP00000355885:G557S;ENSP00000355884:G579S	ENSP00000355884:G579S	G	+	1	0	MARK1	218892114	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	1.932000	0.40143	0.892000	0.36259	0.563000	0.77884	GGT	-	NULL		0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	protein_coding	OTTHUMT00000090899.1	G		-	Missense_Mutation	220825491	1	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	SNP	1.000	A	A	220825491	G	A	220825491	5	1	22	1	0	0	0	0	0	0	1	0	9314	1362	47	2	1793	2	MARK1	1	220825491	Splice_Site	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	19649745	220825491	28425130	9	1498											
OBSCN	84033	genome.wustl.edu	37	chr1	228463525	228463525	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcggagctcggtgacCctggaggtggagctgacgcg	20	9	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:228463525C>G	ENST00000422127.1	+	21	6062	c.6018C>G	c.(6016-6018)acC>acG	p.T2006T	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.T853T|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.T2381T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Silent_p.T2006T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2006	Ig-like 20.				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)				GCTCGGTGACCCTGGAGGTGG	0.697																																																	0								ENSG00000154358						12	16	14					1																	228463525		1952	4156	6108	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.6018C>G	1.37:g.228463525C>G		Somatic	0	54	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	6	70.00	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T2006	ENST00000422127.1	37	c.6018	CCDS58065.1	1																																																																																			-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228463525	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.000	G	G	228463525	C	G	228463525	2	3	22	1	0	0	0	0	0	0	0	1	10814	610	22	4		4	OBSCN	1	228463525	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	7638034	228463525	20787096	10	1499											
RYR2	6262	genome.wustl.edu	37	chr1	237666727	237666727	+	Frame_Shift_Del	DEL	T	T	-													gagtacaagcaagaaagaacTtacacacgcgacctgctggg							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr1:237666727delT	ENST00000366574.2	+	22	2852	c.2535delT	c.(2533-2535)actfs	p.T845fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.T829fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.T843fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	845					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAAAGAACTTACACACGCG	0.507																																																	0								ENSG00000198626						123	128	126					1																	237666727		2025	4170	6195	RYR2	SO:0001589	frameshift_variant	0				HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2535delT	1.37:g.237666727delT	ENSP00000355533:p.Thr845fs	Somatic	0	56	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.Y844fs	ENST00000366574.2	37	c.2529	CCDS55691.1	1																																																																																			-	NULL		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	T	NM_001035			237666727	1	no_errors	ENST00000360064	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	237666727	T	-	237666727	7	5	22	1	0	1	0	1	0	0	0	0	13777	1596	56	0	2621	0	RYR2	1	237666727	Frame_Shift_Del	DEL	T	TCGA-DX-A1KY-01A-11D-A24N-09	9203202	237666727	11583894	11	1500											
FMNL2	114793	genome.wustl.edu	37	chr2	153482063	153482063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgaaattgatgatgAgcgaattctggaggtatttt	10	4	2	4			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr2:153482063A>G	ENST00000475377.2	+	3	274	c.74A>G	c.(73-75)gAg>gGg	p.E25G	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000288670.9_Missense_Mutation_p.E650G			Q96PY5	FMNL2_HUMAN	formin-like 2	650	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ATTGATGATGAGCGAATTCTG	0.443																																																	0								ENSG00000157827						122	115	117					2																	153482063		1859	4097	5956	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.74A>G	2.37:g.153482063A>G	ENSP00000418959:p.Glu25Gly	Somatic	0	53	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	13	65.79	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E650G	ENST00000475377.2	37	c.1949		2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154452	0.78114	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.18338	2.22;2.22	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	L	0.60957	1.885	0.80722	D	1	D;B;B	0.76494	0.999;0.06;0.357	D;B;B	0.81914	0.995;0.22;0.214	T	0.06570	-1.0819	10	0.54805	T	0.06	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	650;131;650	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	G	650;131;25	ENSP00000288670:E650G;ENSP00000418959:E25G	ENSP00000288670:E650G	E	+	2	0	FMNL2	153190309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAG	-	pfam_FH2_Formin,smart_FH2_Formin		0.443	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	protein_coding	OTTHUMT00000333583.3	A	NM_052905	-		153482063	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153482063	A	G	153482063	3	3	22	1	0	0	0	0	1	0	0	0	5954	304	11	5	2011	5	FMNL2	2	153482063	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09		153482063	89717310	12	1501											
B3GNT7	93010	genome.wustl.edu	37	chr2	232262748	232262748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccaggtcctggagccGcagttccggcagtttctctt	12	12	1	0	rs377346766		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr2:232262748G>A	ENST00000287590.5	+	2	579	c.318G>A	c.(316-318)ccG>ccA	p.P106P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	106					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TCCTGGAGCCGCAGTTCCGGC	0.617																																																	0								ENSG00000156966						41	47	45					2																	232262748		2014	4162	6176	B3GNT7	SO:0001819	synonymous_variant	0			-	HGNC	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.318G>A	2.37:g.232262748G>A		Somatic	0	53	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B3KWY4|B7WNP0	Silent	SNP							pfam_Glyco_trans_31,pfam_Fringe-like	p.P106	ENST00000287590.5	37	c.318	CCDS46540.1	2																																																																																			-	NULL		0.617	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT7	protein_coding	OTTHUMT00000332827.1	G	NM_145236	-		232262748	1	no_errors	ENST00000287590	ensembl	human	known	74_37	silent	SNP	0.405	A	A	232262748	G	A	232262748	2	1	22	1	0	0	0	0	0	0	0	1	1262	1074	38	1		1	B3GNT7	2	232262748	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	78780685	232262748	10936625	13	1502											
PIK3R4	30849	genome.wustl.edu	37	chr3	130454733	130454733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caattctctgatactgtgatCttcaattttatttagcactt	4	8	3	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr3:130454733C>T	ENST00000356763.3	-	3	1404	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATACTGTGATCTTCAATTTTA	0.323																																																	0								ENSG00000196455						127	135	132					3																	130454733		2203	4299	6502	PIK3R4	SO:0001583	missense	0			-	HGNC	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.847G>A	3.37:g.130454733C>T	ENSP00000349205:p.Asp283Asn	Somatic	0	59	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	45	27.42	Q2TBF4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D283N	ENST00000356763.3	37	c.847	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552593	0.86127	.	.	ENSG00000196455	ENST00000356763	T	0.11495	2.77	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Armadillo-like helical (1);Protein kinase-like domain (1);Armadillo-type fold (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.55834	1.745	0.80722	D	1	P	0.44521	0.837	P	0.53224	0.721	T	0.00057	-1.2174	10	0.38643	T	0.18	-34.1858	19.7147	0.96110	0.0:1.0:0.0:0.0	.	283	Q99570	PI3R4_HUMAN	N	283	ENSP00000349205:D283N	ENSP00000349205:D283N	D	-	1	0	PIK3R4	131937423	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.687000	0.84139	2.732000	0.93576	0.591000	0.81541	GAT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.323	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	protein_coding	OTTHUMT00000356668.1	C	NM_014602	-		130454733	-1	no_errors	ENST00000356763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130454733	C	T	130454733	3	4	22	1	0	0	0	0	1	0	0	0	11923	913	32	2	3301	2	PIK3R4	3	130454733	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		130454733	67567697	14	1503											
STAG1	10274	genome.wustl.edu	37	chr3	136152441	136152441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggatgtgcctcagcaGcttgacgaattgtacaaacc	11	10	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr3:136152441G>T	ENST00000383202.2	-	16	1863	c.1607C>A	c.(1606-1608)gCt>gAt	p.A536D	STAG1_ENST00000536929.1_Missense_Mutation_p.A120D|STAG1_ENST00000434713.2_Missense_Mutation_p.A310D|STAG1_ENST00000236698.5_Missense_Mutation_p.A536D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	536					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGCCTCAGCAGCTTGACGAAT	0.403																																																	0								ENSG00000118007						97	89	92					3																	136152441		2203	4300	6503	STAG1	SO:0001583	missense	0			-	HGNC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1607C>A	3.37:g.136152441G>T	ENSP00000372689:p.Ala536Asp	Somatic	0	40	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O00539|Q6P275	Missense_Mutation	SNP							pfam_STAG,superfamily_ARM-type_fold	p.A536D	ENST00000383202.2	37	c.1607	CCDS3090.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.331674|4.331674	0.81690|0.81690	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929|ENST00000492318	T;T;T;T|.	0.42900|.	1.49;1.49;1.62;0.96|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Armadillo-type fold (1);|.	0.050931|.	0.85682|.	D|.	0.000000|.	T|T	0.81950|0.81950	0.4931|0.4931	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21905|.	0.062;0.003;0.062|.	B;B;B|.	0.26693|.	0.072;0.005;0.072|.	T|T	0.81673|0.81673	-0.0826|-0.0826	10|5	0.72032|.	D|.	0.01|.	.|.	19.7468|19.7468	0.96255|0.96255	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	553;536;536|.	Q4LE48;Q6P275;Q8WVM7|.	.;.;STAG1_HUMAN|.	D|M	536;536;310;120|147	ENSP00000372689:A536D;ENSP00000236698:A536D;ENSP00000404396:A310D;ENSP00000445787:A120D|.	ENSP00000236698:A536D|.	A|L	-|-	2|1	0|2	STAG1|STAG1	137635131|137635131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.476000|9.476000	0.97823|0.97823	2.678000|2.678000	0.91216|0.91216	0.563000|0.563000	0.77884|0.77884	GCT|CTG	-	superfamily_ARM-type_fold		0.403	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	G	NM_005862	-		136152441	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136152441	G	T	136152441	3	4	22	1	0	0	0	0	1	0	0	0	15249	971	34	3	2245	3	STAG1	3	136152441	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	5697708	136152441	61869989	15	1504											
ATR	545	genome.wustl.edu	37	chr3	142279108	142279108	+	Frame_Shift_Del	DEL	T	T	-													caagaagtttgttttaccagTtcatgttttgatgagaacaa							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr3:142279108delT	ENST00000350721.4	-	6	1659	c.1538delA	c.(1537-1539)aacfs	p.N513fs	ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	513					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTTTACCAGTTCATGTTTTG	0.368								Other conserved DNA damage response genes																																									0								ENSG00000175054						91	92	91					3																	142279108		2203	4300	6503	ATR	SO:0001589	frameshift_variant	0				HGNC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1538delA	3.37:g.142279108delT	ENSP00000343741:p.Asn513fs	Somatic	0	54	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	17	63.04	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL							pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.N513fs	ENST00000350721.4	37	c.1538	CCDS3124.1	3																																																																																			-	superfamily_ARM-type_fold		0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	T	NM_001184			142279108	-1	no_errors	ENST00000350721	ensembl	human	known	74_37	frame_shift_del	DEL	0.288	-	-	142279108	T	-	142279108	7	5	22	1	0	1	0	1	0	0	0	0	1204	1725	60	0	6564	0	ATR	3	142279108	Frame_Shift_Del	DEL	T	TCGA-DX-A1KY-01A-11D-A24N-09	6126667	142279108	55743322	16	1505											
MED12L	116931	genome.wustl.edu	37	chr3	151075070	151075070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctggcaggaagttatAcaacaggactgtgtgtctgc	12	10	1	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr3:151075070A>G	ENST00000474524.1	+	18	2664	c.2626A>G	c.(2626-2628)Aca>Gca	p.T876A	MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.T736A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	876						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAAGTTATACAACAGGACT	0.453																																																	0								ENSG00000144893						111	96	101					3																	151075070		2203	4300	6503	MED12L	SO:0001583	missense	0			-	HGNC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2626A>G	3.37:g.151075070A>G	ENSP00000417235:p.Thr876Ala	Somatic	0	142	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	34	63.83	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.T876A	ENST00000474524.1	37	c.2626	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763927	0.69878	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79247	-1.25;-1.25	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	L	0.55743	1.74	0.80722	D	1	P;D;D	0.61697	0.911;0.99;0.984	P;D;D	0.70935	0.755;0.971;0.956	D	0.86669	0.1909	10	0.87932	D	0	-21.8398	15.2053	0.73175	1.0:0.0:0.0:0.0	.	736;876;876	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	A	876;736	ENSP00000417235:T876A;ENSP00000273432:T736A	ENSP00000273432:T736A	T	+	1	0	MED12L	152557760	1.000000	0.71417	0.916000	0.36221	0.996000	0.88848	8.503000	0.90509	2.113000	0.64589	0.533000	0.62120	ACA	-	NULL		0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	protein_coding	OTTHUMT00000357707.2	A	NM_053002	-		151075070	1	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	SNP	1.000	G	G	151075070	A	G	151075070	3	3	22	1	0	0	0	0	1	0	0	0	9431	391	14	5	2696	5	MED12L	3	151075070	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09	8795962	151075070	46947360	17	1506											
ARHGAP24	83478	genome.wustl.edu	37	chr4	86643057	86643057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtactatttttctgcctgGaaataaagtttctgagcatc	9	7	2	1	rs144785317	byFrequency	TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr4:86643057G>A	ENST00000395184.1	+	3	666	c.200G>A	c.(199-201)gGa>gAa	p.G67E	MIR4451_ENST00000580577.1_RNA|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.G67E|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	67	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTCTGCCTGGAAATAAAGTT	0.343																																																	0								ENSG00000138639	G	GLU/GLY	0,4406		0,0,2203	157	156	156		200	5	1	4	dbSNP_134	156	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ARHGAP24	NM_001025616.2	98	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	probably-damaging	67/749	86643057	8,12998	2203	4300	6503	ARHGAP24	SO:0001583	missense	0			-	HGNC	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.200G>A	4.37:g.86643057G>A	ENSP00000378611:p.Gly67Glu	Somatic	0	121	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G67E	ENST00000395184.1	37	c.200	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090071	0.76756	0.0	9.3E-4	ENSG00000138639	ENST00000395184;ENST00000503995	T;T	0.74737	-0.87;-0.87	4.97	4.97	0.65823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.062753	0.64402	D	0.000006	D	0.84234	0.5427	L	0.58925	1.835	0.80722	D	1	P;D;D	0.89917	0.931;1.0;0.996	P;D;D	0.97110	0.877;1.0;0.93	D	0.85919	0.1445	10	0.87932	D	0	.	17.3669	0.87366	0.0:0.0:1.0:0.0	.	67;67;212	Q8N264;Q8N264-4;Q8N264-5	RHG24_HUMAN;.;.	E	67	ENSP00000378611:G67E;ENSP00000423206:G67E	ENSP00000378611:G67E	G	+	2	0	ARHGAP24	86862081	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	8.196000	0.89725	2.469000	0.83416	0.650000	0.86243	GGA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.343	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	protein_coding	OTTHUMT00000252815.2	G	NM_031305	rs144785317		86643057	1	no_errors	ENST00000395184	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86643057	G	A	86643057	3	1	22	1	0	0	0	0	1	0	0	0	873	1174	41	2	206	2	ARHGAP24	4	86643057	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		86643057	104511219	18	1507											
AADAT	51166	genome.wustl.edu	37	chr4	170983085	170983085	+	Frame_Shift_Del	DEL	C	C	-													gctgaagagaaggatgctctCaagtaagggctaggagctga							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr4:170983085delC	ENST00000337664.4	-	12	1470	c.1194delG	c.(1192-1194)ttgfs	p.L398fs	AADAT_ENST00000509167.1_Frame_Shift_Del_p.L402fs|AADAT_ENST00000353187.2_Frame_Shift_Del_p.L398fs|AADAT_ENST00000515480.1_Frame_Shift_Del_p.L398fs	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	398					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		AGGATGCTCTCAAGTAAGGGC	0.418																																																	0								ENSG00000109576						134	114	121					4																	170983085		2203	4300	6503	AADAT	SO:0001589	frameshift_variant	0				HGNC	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.1194delG	4.37:g.170983085delC	ENSP00000336808:p.Leu398fs	Somatic	0	56	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B3KP84|Q9UL02	Frame_Shift_Del	DEL							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R403fs	ENST00000337664.4	37	c.1206	CCDS3814.1	4																																																																																			-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.418	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	protein_coding	OTTHUMT00000362952.1	C	NM_016228			170983085	-1	no_errors	ENST00000509167	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	170983085	C	-	170983085	7	5	22	1	0	1	0	1	0	0	0	0	14	825	29	0	91	0	AADAT	4	170983085	Frame_Shift_Del	DEL	C	TCGA-DX-A1KY-01A-11D-A24N-09	84340028	170983085	20171191	19	1508											
SEMA5A	9037	genome.wustl.edu	37	chr5	9054348	9054348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacattttgtccagggggacCagcaagaccacacgccatcc	9	14	0	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr5:9054348C>A	ENST00000382496.5	-	19	3205	c.2540G>T	c.(2539-2541)tGg>tTg	p.W847L	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	847	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGGGGGACCAGCAAGACCA	0.512																																																	0								ENSG00000112902						71	64	66					5																	9054348		2203	4300	6503	SEMA5A	SO:0001583	missense	0			-	HGNC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2540G>T	5.37:g.9054348C>A	ENSP00000371936:p.Trp847Leu	Somatic	0	34	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.W847L	ENST00000382496.5	37	c.2540	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.129340	0.94473	.	.	ENSG00000112902	ENST00000382496	T	0.63417	-0.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.87593	0.6216	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91923	0.5549	10	0.87932	D	0	.	17.4491	0.87587	0.0:1.0:0.0:0.0	.	847	Q13591	SEM5A_HUMAN	L	847	ENSP00000371936:W847L	ENSP00000371936:W847L	W	-	2	0	SEMA5A	9107348	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.422000	0.80217	2.793000	0.96121	0.561000	0.74099	TGG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	protein_coding	OTTHUMT00000206989.2	C		-		9054348	-1	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9054348	C	A	9054348	3	1	22	1	0	0	0	0	1	0	0	0	14045	595	21	3	704	3	SEMA5A	5	9054348	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		9054348	171860912	20	1509											
SLC1A3	6507	genome.wustl.edu	37	chr5	36680650	36680651	+	Frame_Shift_Ins	INS	-	-	AACAACTTTG													ccattttcattgctcaagttINSaacaactttgaactgaactt							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr5:36680650_36680651insAACAACTTTG	ENST00000265113.4	+	8	1724_1725	c.1248_1249insAACAACTTTG	c.(1249-1251)aacfs	p.-420fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.-420fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3						auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCTCAAGTTAACAACTTTGA	0.46																																																	0								ENSG00000079215																																			SLC1A3	SO:0001589	frameshift_variant	0				HGNC		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1249_1258dupAACAACTTTG	5.37:g.36680651_36680660dupAACAACTTTG	ENSP00000265113:p.Glu420fs	Somatic					0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS							pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.E420fs	ENST00000265113.4	37	c.1248_1249	CCDS3919.1	5																																																																																			-	pfam_Na-dicarboxylate_symporter		0.46	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	protein_coding	OTTHUMT00000207579.2	-	NM_004172			36680651	1	no_errors	ENST00000265113	ensembl	human	known	74_37	frame_shift_ins	INS	0.746:1.000	AACAACTTTG	AACAACTTTG	36680651	-	AACAACTTTG	36680650	7	5	22	1	0	1	1	0	0	0	0	0	14441	1741	61	0	1291	0	SLC1A3	5	36680650	Frame_Shift_Ins	INS	-	TCGA-DX-A1KY-01A-11D-A24N-09	27626302	36680650	144234610	21	1510											
CHSY3	337876	genome.wustl.edu	37	chr5	129521365	129521365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgatcctaacttggacCctaagcagtataagatgtgc	9	8	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr5:129521365C>T	ENST00000305031.4	+	3	2888	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	844					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TAACTTGGACCCTAAGCAGTA	0.428																																																	0								ENSG00000198108						83	81	81					5																	129521365		2203	4300	6503	CHSY3	SO:0001583	missense	0			-	HGNC	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2530C>T	5.37:g.129521365C>T	ENSP00000302629:p.Pro844Ser	Somatic	0	44	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP							pfam_Chond_GalNAc,pfam_Fringe-like	p.P844S	ENST00000305031.4	37	c.2530	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936547	0.34189	.	.	ENSG00000198108	ENST00000305031	T	0.14640	2.49	4.06	4.06	0.47325	.	0.000000	0.48286	D	0.000198	T	0.16854	0.0405	L	0.57536	1.79	0.52501	D	0.999956	B	0.29341	0.242	B	0.29663	0.105	T	0.05920	-1.0856	9	.	.	.	.	17.5595	0.87902	0.0:1.0:0.0:0.0	.	844	Q70JA7	CHSS3_HUMAN	S	844	ENSP00000302629:P844S	.	P	+	1	0	CHSY3	129549264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.845000	0.62853	2.557000	0.86248	0.650000	0.86243	CCT	-	pfam_Chond_GalNAc		0.428	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	protein_coding	OTTHUMT00000371453.1	C	NM_175856	-		129521365	1	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129521365	C	T	129521365	3	4	22	1	0	0	0	0	1	0	0	0	3415	623	22	2	2540	2	CHSY3	5	129521365	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	92840715	129521365	51393895	22	1511											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140773965	140773965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagcagatccgagacctgCagctactggtaacagccagc	11	12	0	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr5:140773965C>A	ENST00000398604.2	+	1	1585	c.1585C>A	c.(1585-1587)Cag>Aag	p.Q529K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	529	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGACCTGCAGCTACTGGT	0.592																																																	0								ENSG00000253767						78	92	87					5																	140773965		2197	4300	6497	PCDHGA8	SO:0001583	missense	0			-	HGNC	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1585C>A	5.37:g.140773965C>A	ENSP00000381605:p.Gln529Lys	Somatic	0	86	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	A7MCZ4|O15039	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q529K	ENST00000398604.2	37	c.1585	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	1.482	-0.557044	0.03967	.	.	ENSG00000253767	ENST00000398604	T	0.50277	0.75	5.06	3.12	0.35913	Cadherin (5);Cadherin-like (1);	0.000000	0.29932	U	0.010828	T	0.44685	0.1305	M	0.62723	1.935	0.09310	N	1	B;B	0.16802	0.019;0.016	B;B	0.20384	0.029;0.017	T	0.36962	-0.9726	10	0.32370	T	0.25	.	13.0053	0.58701	0.2933:0.7067:0.0:0.0	.	529;529	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	K	529	ENSP00000381605:Q529K	ENSP00000381605:Q529K	Q	+	1	0	PCDHGA8	140754149	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	-0.367000	0.07553	1.105000	0.41606	0.655000	0.94253	CAG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.592	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	protein_coding	OTTHUMT00000376972.1	C	NM_032088	-		140773965	1	no_errors	ENST00000398604	ensembl	human	known	74_37	missense	SNP	0.051	A	A	140773965	C	A	140773965	3	1	22	1	0	0	0	0	1	0	0	0	11562	711	25	3	1587	3	PCDHGA8	5	140773965	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	11252600	140773965	40141295	23	1512											
SLIT3	6586	genome.wustl.edu	37	chr5	168151482	168151482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggctgttaggtggtttccttCcaggtacctgaaagaggtgt	14	7	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr5:168151482C>G	ENST00000519560.1	-	21	2697	c.2278G>C	c.(2278-2280)Gaa>Caa	p.E760Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.E760Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E760Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	760					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTTTCCTTCCAGGTACCTG	0.512																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						68	63	65					5																	168151482		2203	4298	6501	SLIT3	SO:0001583	missense	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2278G>C	5.37:g.168151482C>G	ENSP00000430333:p.Glu760Gln	Somatic	0	58	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E760Q	ENST00000519560.1	37	c.2278	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	c	21.3	4.132898	0.77662	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.79940	-1.32;-1.32;-1.32	4.34	4.34	0.51931	.	0.105910	0.64402	D	0.000004	T	0.80884	0.4709	N	0.20881	0.62	0.58432	D	0.999996	P	0.41041	0.736	P	0.53809	0.735	D	0.84225	0.0463	10	0.87932	D	0	.	17.1167	0.86690	0.0:1.0:0.0:0.0	.	760	O75094	SLIT3_HUMAN	Q	760	ENSP00000430333:E760Q;ENSP00000332164:E760Q;ENSP00000384890:E760Q	ENSP00000332164:E760Q	E	-	1	0	SLIT3	168084060	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.376000	0.73141	2.264000	0.75181	0.489000	0.48404	GAA	-	NULL		0.512	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	C	NM_003062	-		168151482	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	SNP	1.000	G	G	168151482	C	G	168151482	3	3	22	1	0	0	0	0	1	0	0	0	14749	864	30	4	2357	4	SLIT3	5	168151482	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	27377517	168151482	12763778	24	1513											
GCNT2	2651	genome.wustl.edu	37	chr6	10529549	10529549	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcagaaggcgacggatgcCtttaaaggtgcagtgaaaca	13	7	1	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:10529549C>A	ENST00000379597.3	+	1	961	c.405C>A	c.(403-405)gcC>gcA	p.A135A	GCNT2_ENST00000495262.1_Silent_p.A135A|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	135					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CGACGGATGCCTTTAAAGGTG	0.507																																																	0								ENSG00000111846						85	78	80					6																	10529549		2203	4300	6503	GCNT2	SO:0001819	synonymous_variant	0			-	HGNC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.405C>A	6.37:g.10529549C>A		Somatic	0	37	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67		Silent	SNP							pfam_Glyco_trans_14	p.A135	ENST00000379597.3	37	c.405	CCDS34338.1	6																																																																																			-	pfam_Glyco_trans_14		0.507	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	protein_coding	OTTHUMT00000327912.3	C	NM_145649	-		10529549	1	no_errors	ENST00000379597	ensembl	human	known	74_37	silent	SNP	0.000	A	A	10529549	C	A	10529549	2	1	22	1	0	0	0	0	0	0	0	1	6303	668	24	3		3	GCNT2	6	10529549	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		10529549	160585518	25	1514											
COL11A2	1302	genome.wustl.edu	37	chr6	33131576	33131576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcgttcgcacctccagcAccgtccggccttgctgtgtc	11	17	0	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:33131576A>G	ENST00000374708.4	-	64	5090	c.4832T>C	c.(4831-4833)gTg>gCg	p.V1611A	COL11A2_ENST00000395197.1_Missense_Mutation_p.V1637A|COL11A2_ENST00000374713.1_Missense_Mutation_p.V1650A|COL11A2_ENST00000374714.1_Missense_Mutation_p.V1671A|COL11A2_ENST00000374712.1_Missense_Mutation_p.V1616A|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000357486.1_Missense_Mutation_p.V1676A|COL11A2_ENST00000361917.1_Missense_Mutation_p.V1590A|COL11A2_ENST00000341947.2_Missense_Mutation_p.V1697A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1697	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)			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						CACCTCCAGCACCGTCCGGCC	0.657																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						67	58	61					6																	33131576		1510	2709	4219	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.4832T>C	6.37:g.33131576A>G	ENSP00000363840:p.Val1611Ala	Somatic	0	91	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	36.36	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.V1697A	ENST00000374708.4	37	c.5090	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055274	0.36277	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.12	5.12	0.69794	Fibrillar collagen, C-terminal (4);	0.073647	0.53938	D	0.000058	D	0.83848	0.5343	M	0.76433	2.335	0.58432	D	0.999997	D;P;P;P	0.65815	0.995;0.663;0.663;0.711	D;B;B;P	0.71870	0.975;0.343;0.343;0.474	D	0.86390	0.1735	10	0.87932	D	0	.	12.9114	0.58182	1.0:0.0:0.0:0.0	.	293;1590;1611;1697	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	A	1611;1697;1676;1671;1650;1637;1616;1590;267	ENSP00000363840:V1611A;ENSP00000339915:V1697A;ENSP00000350079:V1676A;ENSP00000363846:V1671A;ENSP00000363845:V1650A;ENSP00000378623:V1637A;ENSP00000363844:V1616A;ENSP00000355123:V1590A	ENSP00000339915:V1697A	V	-	2	0	COL11A2	33239554	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	8.139000	0.89615	2.148000	0.66965	0.523000	0.50628	GTG	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	A		-		33131576	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33131576	A	G	33131576	3	3	22	1	0	0	0	0	1	0	0	0	3670	159	6	5	124	5	COL11A2	6	33131576	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09	22602027	33131576	137983491	26	1515											
RFX6	222546	genome.wustl.edu	37	chr6	117249984	117249984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggatcaatggtgaatcagCacgtttctgtcatcagcagc	10	10	5	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:117249984C>A	ENST00000332958.2	+	18	2477	c.2461C>A	c.(2461-2463)Cac>Aac	p.H821N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	821					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGTGAATCAGCACGTTTCTGT	0.438																																																	0								ENSG00000185002						163	143	150					6																	117249984		2203	4300	6503	RFX6	SO:0001583	missense	0			-	HGNC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2461C>A	6.37:g.117249984C>A	ENSP00000332208:p.His821Asn	Somatic	0	94	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	2	90.91	Q5T6B3	Missense_Mutation	SNP							pfam_DNA-bd_RFX	p.H821N	ENST00000332958.2	37	c.2461	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539750	0.85917	.	.	ENSG00000185002	ENST00000332958	T	0.60797	0.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.65998	-0.6032	10	0.72032	D	0.01	-21.5527	20.0442	0.97604	0.0:1.0:0.0:0.0	.	821	Q8HWS3	RFX6_HUMAN	N	821	ENSP00000332208:H821N	ENSP00000332208:H821N	H	+	1	0	RFX6	117356677	1.000000	0.71417	0.715000	0.30552	0.802000	0.45316	7.398000	0.79919	2.814000	0.96858	0.655000	0.94253	CAC	-	NULL		0.438	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	protein_coding	OTTHUMT00000041970.2	C	NM_173560	-		117249984	1	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117249984	C	A	117249984	3	1	22	1	0	0	0	0	1	0	0	0	13275	710	25	3	2531	3	RFX6	6	117249984	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	84118408	117249984	53865083	27	1516											
SYNE1	23345	genome.wustl.edu	37	chr6	152466656	152466656	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcattttctgtgagtttTacataggcctcagggctttc	9	8	2	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:152466656T>C	ENST00000367255.5	-	138	25578				SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Silent_p.V8266V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.V8266V|SYNE1_ENST00000354674.4_Silent_p.V492V|SYNE1_ENST00000356820.4_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		CTGTGAGTTTTACATAGGCCT	0.483										HNSCC(10;0.0054)																																							0								ENSG00000131018						124	117	119					6																	152466656		2203	4300	6503	SYNE1	SO:0001627	intron_variant	0			-	HGNC	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.24977-1756A>G	6.37:g.152466656T>C		Somatic	0	72	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V8266	ENST00000367255.5	37	c.24798	CCDS5236.2	6																																																																																			-	NULL		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	T	NM_182961	-		152466656	-1	no_errors	ENST00000423061	ensembl	human	known	74_37	silent	SNP	1.000	C	C	152466656	T	C	152466656	1	2	22	0	1	0	0	0	0	0	0	0	15452	1741	61	5		5	SYNE1	6	152466656	Intron	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	35216672	152466656	18648411	28	1517											
PNLDC1	154197	genome.wustl.edu	37	chr6	160238167	160238167	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaagtggcacacttgcttCtacagaagatataccagtaa	8	8	1	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:160238167C>T	ENST00000610273.1	+	15	1279	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L	PNLDC1_ENST00000392167.3_Silent_p.L381L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	370						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACACTTGCTTCTACAGAAGAT	0.393																																																	0								ENSG00000146453						210	193	199					6																	160238167		2203	4298	6501	PNLDC1	SO:0001819	synonymous_variant	0			-	HGNC	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1108C>T	6.37:g.160238167C>T		Somatic	0	106	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	78	25.71	Q5TAP7|Q8N7X5	Silent	SNP							pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.L370	ENST00000610273.1	37	c.1108	CCDS5271.1	6																																																																																			-	superfamily_RNaseH-like_dom		0.393	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	protein_coding		C	NM_173516	-		160238167	1	no_errors	ENST00000610273	ensembl	human	known	74_37	silent	SNP	0.886	T	T	160238167	C	T	160238167	2	4	22	1	0	0	0	0	0	0	0	1	12150	912	32	2		2	PNLDC1	6	160238167	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	7771511	160238167	10876900	29	1518											
IGF2R	3482	genome.wustl.edu	37	chr6	160482875	160482875	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaagccgcggcgaatggatCtttgagcatcatgtatgtca	11	10	3	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:160482875C>G	ENST00000356956.1	+	25	3645	c.3497C>G	c.(3496-3498)tCt>tGt	p.S1166C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1166					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCGAATGGATCTTTGAGCATC	0.537																																																	0								ENSG00000197081						159	146	150					6																	160482875		2203	4300	6503	IGF2R	SO:0001583	missense	0			-	HGNC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3497C>G	6.37:g.160482875C>G	ENSP00000349437:p.Ser1166Cys	Somatic	0	100	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	31	46.55	Q7Z7G9|Q96PT5	Missense_Mutation	SNP							pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S1166C	ENST00000356956.1	37	c.3497	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774927	0.49786	.	.	ENSG00000197081	ENST00000356956	T	0.04049	3.72	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.055307	0.85682	D	0.000000	T	0.19685	0.0473	M	0.86573	2.825	0.54753	D	0.999983	D	0.89917	1.0	D	0.79784	0.993	T	0.00795	-1.1563	10	0.66056	D	0.02	-16.845	17.5389	0.87841	0.0:1.0:0.0:0.0	.	1166	P11717	MPRI_HUMAN	C	1166	ENSP00000349437:S1166C	ENSP00000349437:S1166C	S	+	2	0	IGF2R	160402865	1.000000	0.71417	0.501000	0.27601	0.035000	0.12851	5.530000	0.67141	2.735000	0.93741	0.655000	0.94253	TCT	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	C	NM_000876	-		160482875	1	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	SNP	0.921	G	G	160482875	C	G	160482875	3	3	22	1	0	0	0	0	1	0	0	0	7578	913	32	4	3595	4	IGF2R	6	160482875	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	244708	160482875	10632192	30	1519											
GPR31	2853	genome.wustl.edu	37	chr6	167571125	167571125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccaggaaaggcaggcaCgcagccaacagcaggtcagc	15	13	1	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr6:167571125C>T	ENST00000366834.1	-	1	692	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	65					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AAGGCAGGCACGCAGCCAACA	0.662																																																	0								ENSG00000120436						49	38	42					6																	167571125		2202	4299	6501	GPR31	SO:0001819	synonymous_variant	0			-	HGNC	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.195G>A	6.37:g.167571125C>T		Somatic	0	57	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A65	ENST00000366834.1	37	c.195	CCDS5299.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.662	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	protein_coding	OTTHUMT00000043111.1	C	NM_005299	-		167571125	-1	no_errors	ENST00000366834	ensembl	human	known	74_37	silent	SNP	0.004	T	T	167571125	C	T	167571125	2	4	22	1	0	0	0	0	0	0	0	1	6689	523	19	1		1	GPR31	6	167571125	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	7088250	167571125	3543942	31	1520											
GPER	2852	genome.wustl.edu	37	chr7	1132439	1132439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgctgccctgaaggccGtcattccagacagcaccgag	11	15	2	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr7:1132439G>A	ENST00000297469.3	+	2	1766	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	GPER1_ENST00000397092.1_Missense_Mutation_p.V359I|GPER1_ENST00000397088.3_Missense_Mutation_p.V359I|GPER1_ENST00000401670.1_Missense_Mutation_p.V359I|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	359					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CCTGAAGGCCGTCATTCCAGA	0.592																																																	0								ENSG00000164850						59	48	52					7																	1132439		2203	4299	6502	GPER1	SO:0001583	missense	0			-	HGNC	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.1075G>A	7.37:g.1132439G>A	ENSP00000297469:p.Val359Ile	Somatic	0	74	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	62	15.07	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V359I	ENST00000297469.3	37	c.1075	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	8.627	0.892670	0.17613	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.65	4.75	0.60458	.	.	.	.	.	T	0.48960	0.1529	L	0.27053	0.805	0.09310	N	1	P	0.40398	0.716	B	0.28011	0.085	T	0.23655	-1.0182	9	0.23302	T	0.38	.	15.035	0.71738	0.0:0.176:0.824:0.0	.	359	Q99527	GPER_HUMAN	I	359	ENSP00000385151:V359I;ENSP00000380281:V359I;ENSP00000297469:V359I;ENSP00000380277:V359I	ENSP00000297469:V359I	V	+	1	0	GPER	1098965	1.000000	0.71417	0.001000	0.08648	0.259000	0.26198	4.960000	0.63673	1.286000	0.44565	0.655000	0.94253	GTC	-	NULL		0.592	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER1	protein_coding	OTTHUMT00000060001.1	G	NM_001039966	-		1132439	1	no_errors	ENST00000297469	ensembl	human	known	74_37	missense	SNP	0.009	A	A	1132439	G	A	1132439	3	1	22	1	0	0	0	0	1	0	0	0	6609	1145	40	1	1077	1	GPER	7	1132439	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		1132439	158006224	32	1521											
DDC	1644	genome.wustl.edu	37	chr7	50607642	50607642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgatgcagccaatggcccCgcacagcatgtccgcaagca	11	16	0	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr7:50607642C>T	ENST00000444124.2	-	3	486	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.G96R|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.G96R|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Missense_Mutation_p.G96R	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	96	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCAATGGCCCCGCACAGCATG	0.657																																																	0								ENSG00000132437						84	69	74					7																	50607642		2200	4300	6500	DDC	SO:0001583	missense	0			-	HGNC		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.286G>A	7.37:g.50607642C>T	ENSP00000403644:p.Gly96Arg	Somatic	0	62	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.G96R	ENST00000444124.2	37	c.286	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523399	0.85600	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.5	5.5	0.81552	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048766	0.85682	D	0.000000	T	0.68247	0.2980	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.74699	-0.3577	10	0.87932	D	0	-8.6482	19.4023	0.94635	0.0:1.0:0.0:0.0	.	96;96	Q53Y41;P20711	.;DDC_HUMAN	R	96	ENSP00000350616:G96R;ENSP00000399184:G96R;ENSP00000403644:G96R;ENSP00000370371:G96R	ENSP00000350616:G96R	G	-	1	0	DDC	50575136	1.000000	0.71417	0.956000	0.39512	0.703000	0.40648	4.957000	0.63652	2.573000	0.86826	0.655000	0.94253	GGG	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC		0.657	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	protein_coding	OTTHUMT00000342593.1	C		-		50607642	-1	no_errors	ENST00000357936	ensembl	human	known	74_37	missense	SNP	0.998	T	T	50607642	C	T	50607642	3	4	22	1	0	0	0	0	1	0	0	0	4327	652	23	1	1204	1	DDC	7	50607642	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	49475203	50607642	108531021	33	1522											
TNPO3	23534	genome.wustl.edu	37	chr7	128619088	128619088	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctttgcctacacagcgAacagcaaagcgcaggcacct	9	14	0	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr7:128619088A>C	ENST00000265388.5	-	16	2153	c.2010T>G	c.(2008-2010)gtT>gtG	p.V670V	TNPO3_ENST00000471166.1_Silent_p.V704V|TNPO3_ENST00000393245.1_Silent_p.V704V|TNPO3_ENST00000482320.1_Silent_p.V604V|TNPO3_ENST00000471234.1_Silent_p.V606V			Q9Y5L0	TNPO3_HUMAN	transportin 3	670					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTACACAGCGAACAGCAAAGC	0.483																																					Pancreas(147;583 2585 39696 52331)												0								ENSG00000064419						166	155	159					7																	128619088		2203	4300	6503	TNPO3	SO:0001819	synonymous_variant	0			-	HGNC	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2010T>G	7.37:g.128619088A>C		Somatic	0	41	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP							pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.V704	ENST00000265388.5	37	c.2112	CCDS5809.1	7																																																																																			-	superfamily_ARM-type_fold		0.483	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	A	NM_012470	-		128619088	-1	no_errors	ENST00000393245	ensembl	human	known	74_37	silent	SNP	0.991	C	C	128619088	A	C	128619088	2	2	22	1	0	0	0	0	0	0	0	1	16344	233	9	5		5	TNPO3	7	128619088	Silent	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09	78011446	128619088	30519575	34	1523											
WRN	7486	genome.wustl.edu	37	chr8	30924631	30924631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaagacaagtctatccGctgtagcaattggagtaaat	9	8	1	2	rs561603992		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr8:30924631G>T	ENST00000298139.5	+	6	836	c.587G>T	c.(586-588)cGc>cTc	p.R196L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				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)		AAGTCTATCCGCTGTAGCAAT	0.413			"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)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								ENSG00000165392						90	79	82					8																	30924631		2203	4300	6503	WRN	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria	-	HGNC		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.587G>T	8.37:g.30924631G>T	ENSP00000298139:p.Arg196Leu	Somatic	0	75	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.12	A1KYY9	Missense_Mutation	SNP							pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.R196L	ENST00000298139.5	37	c.587	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.127865	0.94473	.	.	ENSG00000165392	ENST00000298139	T	0.60548	0.18	5.82	5.82	0.92795	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.056461	0.64402	D	0.000001	D	0.83335	0.5232	M	0.93638	3.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.86886	0.2045	10	0.87932	D	0	-10.7416	19.6956	0.96023	0.0:0.0:1.0:0.0	.	196	Q14191	WRN_HUMAN	L	196	ENSP00000298139:R196L	ENSP00000298139:R196L	R	+	2	0	WRN	31044173	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.019000	0.70818	2.757000	0.94681	0.561000	0.74099	CGC	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.413	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	G		-		30924631	1	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30924631	G	T	30924631	3	4	22	1	0	0	0	0	1	0	0	0	17409	1087	38	3	605	3	WRN	8	30924631	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		30924631	115439391	35	1524											
GINS4	84296	genome.wustl.edu	37	chr8	41387793	41387793	+	Frame_Shift_Del	DEL	A	A	-													gaagtggtcctaactcctgcAgagctcattgaaagattgga							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr8:41387793delA	ENST00000276533.3	+	2	282	c.72delA	c.(70-72)gcafs	p.A24fs	GINS4_ENST00000523277.2_Frame_Shift_Del_p.A24fs|GINS4_ENST00000518671.1_Frame_Shift_Del_p.A24fs|GINS4_ENST00000520710.1_Frame_Shift_Del_p.A24fs	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	24					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TAACTCCTGCAGAGCTCATTG	0.468																																																	0								ENSG00000147536						119	114	116					8																	41387793		2203	4300	6503	GINS4	SO:0001589	frameshift_variant	0				HGNC	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.72delA	8.37:g.41387793delA	ENSP00000276533:p.Ala24fs	Somatic	0	44	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B2R8H5|D3DSY0|Q8N648	Frame_Shift_Del	DEL							pfam_GINS_complex,pirsf_GINS_Sld5	p.E25fs	ENST00000276533.3	37	c.72	CCDS6116.1	8																																																																																			-	pirsf_GINS_Sld5		0.468	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS4	protein_coding	OTTHUMT00000377150.1	A	NM_032336			41387793	1	no_errors	ENST00000276533	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	41387793	A	-	41387793	7	5	22	1	0	1	0	1	0	0	0	0	6392	175	7	0	74	0	GINS4	8	41387793	Frame_Shift_Del	DEL	A	TCGA-DX-A1KY-01A-11D-A24N-09	10463162	41387793	104976229	36	1525											
CA3	761	genome.wustl.edu	37	chr8	86351943	86351943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcgactttatttcctaggtCctgaccactggcatgaactt	7	12	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr8:86351943C>A	ENST00000285381.2	+	2	120	c.37C>A	c.(37-39)Cct>Act	p.P13T	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	13					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TTTCCTAGGTCCTGACCACTG	0.473																																																	0								ENSG00000164879						50	49	49					8																	86351943		2203	4300	6503	CA3	SO:0001583	missense	0			-	HGNC	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"Carbonic anhydrases"	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.37C>A	8.37:g.86351943C>A	ENSP00000285381:p.Pro13Thr	Somatic	0	43	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B2R867|B3KUC8|O60842	Missense_Mutation	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.P13T	ENST00000285381.2	37	c.37	CCDS6238.1	8	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396744	0.83120	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.56444	0.46	5.75	5.75	0.90469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88214	0.2892	10	0.87932	D	0	-18.9902	18.9294	0.92558	0.0:1.0:0.0:0.0	.	13	P07451	CAH3_HUMAN	T	13	ENSP00000285381:P13T	ENSP00000285381:P13T	P	+	1	0	CA3	86539195	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.993000	0.76245	2.706000	0.92434	0.603000	0.83216	CCT	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.473	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA3	protein_coding	OTTHUMT00000381090.1	C	NM_005181	-		86351943	1	no_errors	ENST00000285381	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86351943	C	A	86351943	3	1	22	1	0	0	0	0	1	0	0	0	2519	855	30	3	43	3	CA3	8	86351943	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	44964150	86351943	60012079	37	1526											
RIMS2	9699	genome.wustl.edu	37	chr8	104933942	104933942	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggatcgtccttctaTttctgttacctctcccatga	5	11	3	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr8:104933942T>G	ENST00000436393.2	+	8	1701	c.1460T>G	c.(1459-1461)aTt>aGt	p.I487S	RIMS2_ENST00000262231.10_Missense_Mutation_p.I564S|RIMS2_ENST00000406091.3_Missense_Mutation_p.I709S|RIMS2_ENST00000507740.1_Missense_Mutation_p.I517S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	787					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGTCCTTCTATTTCTGTTACC	0.368										HNSCC(12;0.0054)																																							0								ENSG00000176406						183	171	175					8																	104933942		1849	4102	5951	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1460T>G	8.37:g.104933942T>G	ENSP00000390665:p.Ile487Ser	Somatic	0	134	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	88	63	58.28	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.I709S	ENST00000436393.2	37	c.2126		8	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642863	0.87859	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21031	2.03;2.53;2.14;2.22;2.17;2.1;2.55	5.85	5.85	0.93711	.	.	.	.	.	T	0.36853	0.0982	L	0.32530	0.975	0.80722	D	1	P;D;D;D;D;D	0.69078	0.548;0.975;0.983;0.975;0.988;0.997	P;D;D;P;D;D	0.72982	0.518;0.92;0.979;0.885;0.919;0.971	T	0.12656	-1.0539	9	0.87932	D	0	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	787;787;487;564;517;709	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	S	709;740;709;787;517;564;517;517;487	ENSP00000427018:I709S;ENSP00000384892:I709S;ENSP00000425205:I517S;ENSP00000262231:I564S;ENSP00000423559:I517S;ENSP00000386228:I517S;ENSP00000390665:I487S	ENSP00000262231:I564S	I	+	2	0	RIMS2	105003118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.966000	0.87956	2.238000	0.73509	0.528000	0.53228	ATT	-	NULL		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	T	NM_001100117	-		104933942	1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104933942	T	G	104933942	3	3	22	1	0	0	0	0	1	0	0	0	13376	1493	52	5	2290	5	RIMS2	8	104933942	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	18581999	104933942	41430080	38	1527											
COL14A1	7373	genome.wustl.edu	37	chr8	121293244	121293244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggagcctggtaccttcaAtgtgtttccatgttaccaac	8	10	1	0	rs115441480		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr8:121293244A>G	ENST00000297848.3	+	31	4040	c.3770A>G	c.(3769-3771)aAt>aGt	p.N1257S	COL14A1_ENST00000309791.4_Missense_Mutation_p.N1257S|COL14A1_ENST00000247781.3_Missense_Mutation_p.N1162S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTACCTTCAATGTGTTTCCA	0.348																																																	0								ENSG00000187955	A	SER/ASN	0,4406		0,0,2203	95	99	98		3770	5.9	1	8	dbSNP_132	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	1257/1797	121293244	1,13005	2203	4300	6503	COL14A1	SO:0001583	missense	0			-	HGNC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3770A>G	8.37:g.121293244A>G	ENSP00000297848:p.Asn1257Ser	Somatic	0	90	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	65	13.33		Missense_Mutation	SNP							pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.N1257S	ENST00000297848.3	37	c.3770	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833255	0.32421	0.0	1.16E-4	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02015	4.5;4.5;4.5	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.49699	1.58	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.50980	-0.8763	10	0.17832	T	0.49	.	16.3155	0.82918	1.0:0.0:0.0:0.0	.	1257	Q05707	COEA1_HUMAN	S	1257;1257;1162	ENSP00000311809:N1257S;ENSP00000297848:N1257S;ENSP00000247781:N1162S	ENSP00000247781:N1162S	N	+	2	0	COL14A1	121362425	1.000000	0.71417	0.996000	0.52242	0.234000	0.25298	9.309000	0.96252	2.260000	0.74910	0.528000	0.53228	AAT	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.348	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	A	NM_021110	rs115441480		121293244	1	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	SNP	1.000	G	G	121293244	A	G	121293244	3	3	22	1	0	0	0	0	1	0	0	0	3673	101	4	5	3888	5	COL14A1	8	121293244	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09	16359302	121293244	25070778	39	1528											
FREM1	158326	genome.wustl.edu	37	chr9	14842509	14842509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggactatcatctttgggcaAgacgttgatggggaatttgt	14	5	2	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr9:14842509A>C	ENST00000380880.3	-	9	2326	c.1543T>G	c.(1543-1545)Ttg>Gtg	p.L515V	FREM1_ENST00000380881.4_Missense_Mutation_p.L516V|FREM1_ENST00000422223.2_Missense_Mutation_p.L515V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	515					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTGGGCAAGACGTTGATG	0.507																																																	0								ENSG00000164946						145	145	145					9																	14842509		2038	4193	6231	FREM1	SO:0001583	missense	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1543T>G	9.37:g.14842509A>C	ENSP00000370262:p.Leu515Val	Somatic	0	56	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L516V	ENST00000380880.3	37	c.1546	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607230	0.66558	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.68;1.68;1.68	5.93	2.33	0.28932	.	0.096026	0.52532	D	0.000073	T	0.32793	0.0841	L	0.44542	1.39	0.45762	D	0.998656	D	0.89917	1.0	D	0.91635	0.999	T	0.25676	-1.0125	10	0.11794	T	0.64	-9.8604	6.267	0.20932	0.4781:0.0:0.5219:0.0	.	515	Q5H8C1	FREM1_HUMAN	V	516;515;515	ENSP00000370263:L516V;ENSP00000412940:L515V;ENSP00000370262:L515V	ENSP00000370257:L518V	L	-	1	2	FREM1	14832509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.165000	0.50778	0.506000	0.28125	-0.274000	0.10170	TTG	-	NULL		0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	A	NM_144966	-		14842509	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	SNP	1.000	C	C	14842509	A	C	14842509	3	2	22	1	0	0	0	0	1	0	0	0	6046	69	3	5	5162	5	FREM1	9	14842509	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09		14842509	126370922	40	1529											
RECK	8434	genome.wustl.edu	37	chr9	36108140	36108140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagacctccagaagtcttgtAttgttggaggaaaaagaaaa	10	5	1	3	rs199710956		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr9:36108140A>G	ENST00000377966.3	+	14	2310	c.1744A>G	c.(1744-1746)Att>Gtt	p.I582V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	582					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAAGTCTTGTATTGTTGGAGG	0.338																																																	0								ENSG00000122707	A	VAL/ILE	0,4406		0,0,2203	81	74	77		1744	5.4	1	9		77	4,8596	3.7+/-12.6	0,4,4296	yes	missense	RECK	NM_021111.2	29	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	benign	582/972	36108140	4,13002	2203	4300	6503	RECK	SO:0001583	missense	0			-	HGNC	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1744A>G	9.37:g.36108140A>G	ENSP00000367202:p.Ile582Val	Somatic	0	105	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP							pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.I582V	ENST00000377966.3	37	c.1744	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	A	7.210	0.595175	0.13875	0.0	4.65E-4	ENSG00000122707	ENST00000377966	T	0.42131	0.98	5.38	5.38	0.77491	.	0.117864	0.64402	D	0.000016	T	0.22085	0.0532	N	0.04508	-0.205	0.33986	D	0.648569	B;B	0.18166	0.026;0.026	B;B	0.16289	0.015;0.015	T	0.25467	-1.0131	10	0.22706	T	0.39	-16.5417	13.6181	0.62121	1.0:0.0:0.0:0.0	.	582;582	A8K9D8;O95980	.;RECK_HUMAN	V	582	ENSP00000367202:I582V	ENSP00000367202:I582V	I	+	1	0	RECK	36098140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.586000	0.67503	2.162000	0.67917	0.528000	0.53228	ATT	-	NULL		0.338	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	protein_coding	OTTHUMT00000052409.1	A		rs199710956		36108140	1	no_errors	ENST00000377966	ensembl	human	known	74_37	missense	SNP	1.000	G	G	36108140	A	G	36108140	3	3	22	1	0	0	0	0	1	0	0	0	13208	449	16	5	1798	5	RECK	9	36108140	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09	21265631	36108140	105105291	41	1530											
HSDL2	84263	genome.wustl.edu	37	chr9	115171212	115171212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatattctggtaaataatgcCagtgccattagtttgaccaa	8	7	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr9:115171212C>T	ENST00000398805.3	+	4	533	c.306C>T	c.(304-306)gcC>gcT	p.A102A	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_5'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	102						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TAAATAATGCCAGTGCCATTA	0.358																																																	0								ENSG00000119471						121	107	111					9																	115171212		1874	4122	5996	HSDL2	SO:0001819	synonymous_variant	0			-	HGNC	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.306C>T	9.37:g.115171212C>T		Somatic	0	57	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	38	33.33	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Silent	SNP							pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.A102	ENST00000398805.3	37	c.306	CCDS43864.1	9																																																																																			-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.358	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	protein_coding	OTTHUMT00000053681.1	C	NM_032303	-		115171212	1	no_errors	ENST00000398805	ensembl	human	novel	74_37	silent	SNP	1.000	T	T	115171212	C	T	115171212	2	4	22	1	0	0	0	0	0	0	0	1	7396	581	21	2		2	HSDL2	9	115171212	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	79063072	115171212	26042219	42	1531											
DFNB31	25861	genome.wustl.edu	37	chr9	117240969	117240969	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgggtccacccaggtgTagatgtggttggtgacgtag	16	9	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr9:117240969T>A	ENST00000362057.3	-	2	869	c.701A>T	c.(700-702)tAc>tTc	p.Y234F	DFNB31_ENST00000374057.3_Missense_Mutation_p.Y234F|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	234					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACCCAGGTGTAGATGTGGTT	0.667																																																	0								ENSG00000095397						38	36	37					9																	117240969		2203	4300	6503	DFNB31	SO:0001583	missense	0			-	HGNC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.701A>T	9.37:g.117240969T>A	ENSP00000354623:p.Tyr234Phe	Somatic	0	96	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	55	34.52	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Y234F	ENST00000362057.3	37	c.701	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890673	0.91889	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.16743	2.32;2.32	5.53	5.53	0.82687	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.993;0.995	T	0.17077	-1.0381	10	0.16896	T	0.51	-23.1489	15.6591	0.77169	0.0:0.0:0.0:1.0	.	234;234;234	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	F	234	ENSP00000354623:Y234F;ENSP00000363170:Y234F	ENSP00000354623:Y234F	Y	-	2	0	DFNB31	116280790	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.630000	0.83225	2.097000	0.63578	0.374000	0.22700	TAC	-	superfamily_PDZ		0.667	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	T	NM_015404	-		117240969	-1	no_errors	ENST00000362057	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117240969	T	A	117240969	3	1	22	1	0	0	0	0	1	0	0	0	4457	1638	57	5	2066	5	DFNB31	9	117240969	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	2069757	117240969	23972462	43	1532											
DNM1	1759	genome.wustl.edu	37	chr9	131008703	131008703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaatacatgctgtctgtgGacaacctcaagctgcgggac	11	10	2	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr9:131008703G>T	ENST00000372923.3	+	16	1794	c.1702G>T	c.(1702-1704)Gac>Tac	p.D568Y	DNM1_ENST00000393594.3_Missense_Mutation_p.D568Y|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.D568Y|DNM1_ENST00000493925.1_3'UTR|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000341179.7_Missense_Mutation_p.D568Y|DNM1_ENST00000475805.1_Missense_Mutation_p.D568Y	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	568	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGTCTGTGGACAACCTCAA	0.542																																					GBM(113;146 1575 2722 28670 29921)												0								ENSG00000106976						193	144	161					9																	131008703		2203	4300	6503	DNM1	SO:0001583	missense	0			-	HGNC	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1702G>T	9.37:g.131008703G>T	ENSP00000362014:p.Asp568Tyr	Somatic	0	96	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.D568Y	ENST00000372923.3	37	c.1702	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544353	0.65198	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	M	0.89785	3.06	0.80722	D	1	B;B	0.18610	0.029;0.013	B;B	0.23150	0.044;0.026	D	0.83674	0.0168	10	0.87932	D	0	-7.4965	17.8368	0.88700	0.0:0.0:1.0:0.0	.	568;568	Q05193;Q05193-3	DYN1_HUMAN;.	Y	568;568;568;563;568;568;113	ENSP00000419225:D568Y;ENSP00000345680:D568Y;ENSP00000362014:D568Y;ENSP00000377219:D568Y;ENSP00000420045:D568Y	ENSP00000345680:D568Y	D	+	1	0	DNM1	130048524	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.510000	0.98004	2.436000	0.82500	0.498000	0.49722	GAC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	protein_coding	OTTHUMT00000054367.1	G	NM_004408	-		131008703	1	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131008703	G	T	131008703	3	4	22	1	0	0	0	0	1	0	0	0	4672	1174	41	3	1759	3	DNM1	9	131008703	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	13767734	131008703	10204728	44	1533											
ENTPD8	377841	genome.wustl.edu	37	chr9	140331717	140331717	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagcagccctgcaggctctCaccagcctgtgcagcattag	10	15	1	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr9:140331717C>T	ENST00000472938.1	-	3	305	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ENTPD8_ENST00000344119.2_Missense_Mutation_p.E97K|ENTPD8_ENST00000371506.2_Missense_Mutation_p.E97K			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	97					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAGGCTCTCACCAGCCTGT	0.637																																																	0								ENSG00000188833						52	57	55					9																	140331717		2203	4300	6503	ENTPD8	SO:0001583	missense	0			-	HGNC	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.289G>A	9.37:g.140331717C>T	ENSP00000420531:p.Glu97Lys	Somatic	0	23	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A2BG17|Q6UVZ0	Missense_Mutation	SNP							pfam_GDA1_CD39_NTPase	p.E97K	ENST00000472938.1	37	c.289	CCDS43913.1	9	.	.	.	.	.	.	.	.	.	.	C	5.718	0.316997	0.10845	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938;ENST00000493135	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.37	3.44	0.39384	.	0.288820	0.27981	N	0.017067	T	0.07052	0.0179	L	0.28344	0.845	0.38972	D	0.958777	P;B	0.35011	0.48;0.392	B;B	0.37943	0.13;0.261	T	0.24657	-1.0154	10	0.09084	T	0.74	-6.1791	8.3109	0.32071	0.0:0.8128:0.0:0.1872	.	97;97	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	K	97;97;97;84	ENSP00000344089:E97K;ENSP00000360561:E97K;ENSP00000420531:E97K;ENSP00000420099:E84K	ENSP00000344089:E97K	E	-	1	0	ENTPD8	139451538	0.000000	0.05858	0.926000	0.36857	0.568000	0.35870	0.398000	0.20899	2.275000	0.75901	0.561000	0.74099	GAG	-	pfam_GDA1_CD39_NTPase		0.637	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	protein_coding	OTTHUMT00000355991.1	C	NM_198585	-		140331717	-1	no_errors	ENST00000371506	ensembl	human	known	74_37	missense	SNP	0.945	T	T	140331717	C	T	140331717	3	4	22	1	0	0	0	0	1	0	0	0	5147	835	29	2	1226	2	ENTPD8	9	140331717	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	9323014	140331717	881714	45	1534											
SORCS3	22986	genome.wustl.edu	37	chr10	106917026	106917026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacctgagaggaagccCagtgcactgcctgctggtca	14	11	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr10:106917026C>T	ENST00000369701.3	+	10	1840	c.1613C>T	c.(1612-1614)cCa>cTa	p.P538L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	538					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)		AGAGGAAGCCCAGTGCACTGC	0.562																																					NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						83	73	76					10																	106917026		2203	4300	6503	SORCS3	SO:0001583	missense	0			-	HGNC	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.1613C>T	10.37:g.106917026C>T	ENSP00000358715:p.Pro538Leu	Somatic	0	47	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.P538L	ENST00000369701.3	37	c.1613	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437331	0.43224	.	.	ENSG00000156395	ENST00000369701	T	0.25414	1.8	6.04	5.14	0.70334	VPS10 (1);	0.249150	0.42053	D	0.000768	T	0.22205	0.0535	L	0.39147	1.195	0.51767	D	0.999939	B	0.11235	0.004	B	0.15484	0.013	T	0.02705	-1.1121	9	.	.	.	.	14.7616	0.69610	0.0:0.9315:0.0:0.0685	.	538	Q9UPU3	SORC3_HUMAN	L	538	ENSP00000358715:P538L	.	P	+	2	0	SORCS3	106907016	0.499000	0.26083	0.982000	0.44146	0.862000	0.49288	2.027000	0.41078	2.873000	0.98535	0.563000	0.77884	CCA	-	smart_VPS10		0.562	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	C	NM_014978	-		106917026	1	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	SNP	0.954	T	T	106917026	C	T	106917026	3	4	22	1	0	0	0	0	1	0	0	0	14940	594	21	2	1651	2	SORCS3	10	106917026	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		106917026	28617721	46	1535											
MUC5B	727897	genome.wustl.edu	37	chr11	1271465	1271465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccacctggatcctcacagAgccgagcactacagccaccg	9	17	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:1271465A>G	ENST00000529681.1	+	31	13413	c.13355A>G	c.(13354-13356)gAg>gGg	p.E4452G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E4455G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4452	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)		ATCCTCACAGAGCCGAGCACT	0.662																																																	0								ENSG00000117983						63	76	71					11																	1271465		2012	4150	6162	MUC5B	SO:0001583	missense	0			-	HGNC	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.13355A>G	11.37:g.1271465A>G	ENSP00000436812:p.Glu4452Gly	Somatic	0	123	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	34	42.62	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.E4455G	ENST00000529681.1	37	c.13364	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	3.990	-0.004745	0.07773	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17528	2.27;2.47	1.28	-2.56	0.06268	.	.	.	.	.	T	0.13756	0.0333	L	0.55990	1.75	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.24941	-1.0146	9	0.87932	D	0	.	3.0357	0.06121	0.3977:0.0:0.3667:0.2356	.	4925;4455	A7Y9J9;E9PBJ0	.;.	G	4452;4455;4396;4302;231	ENSP00000436812:E4452G;ENSP00000415793:E4455G	ENSP00000343037:E4396G	E	+	2	0	MUC5B	1228041	.	.	0.000000	0.03702	0.390000	0.30446	.	.	-2.220000	0.00728	0.240000	0.17902	GAG	-	NULL		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	A	XM_001126093	-		1271465	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.000	G	G	1271465	A	G	1271465	3	3	22	1	0	0	0	0	1	0	0	0	9981	304	11	5	13486	5	MUC5B	11	1271465	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09		1271465	133735051	47	1536											
OR51B6	390058	genome.wustl.edu	37	chr11	5372976	5372976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaatgcccacagtgcTaggtgttctgtggttagatc	11	10	1	1	rs201384979		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:5372976T>A	ENST00000380219.1	+	1	239	c.239T>A	c.(238-240)cTa>cAa	p.L80Q	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	80					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)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGTGCTAGGTGTTCTG	0.473																																																	0								ENSG00000176239						132	122	126					11																	5372976		2201	4297	6498	OR51B6	SO:0001583	missense	0			-	HGNC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.239T>A	11.37:g.5372976T>A	ENSP00000369568:p.Leu80Gln	Somatic	0	88	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	23	53.06		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.L80Q	ENST00000380219.1	37	c.239	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183394	0.38511	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00514	6.88	5.15	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000878	T	0.03651	0.0104	H	0.99357	4.53	0.09310	N	1	D	0.67145	0.996	D	0.67900	0.954	T	0.29088	-1.0023	10	0.87932	D	0	.	11.1788	0.48616	0.0:0.0:0.1545:0.8455	.	80	Q9H340	O51B6_HUMAN	Q	79;80	ENSP00000369568:L80Q	ENSP00000369568:L80Q	L	+	2	0	OR51B6	5329552	0.693000	0.27728	0.135000	0.22099	0.247000	0.25773	3.904000	0.56325	0.953000	0.37825	0.455000	0.32223	CTA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	protein_coding	OTTHUMT00000142960.1	T	NM_001004750	-		5372976	1	no_errors	ENST00000380219	ensembl	human	known	74_37	missense	SNP	0.168	A	A	5372976	T	A	5372976	3	1	22	1	0	0	0	0	1	0	0	0	11094	1522	53	5	241	5	OR51B6	11	5372976	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	4101511	5372976	129633540	48	1537											
FADS2	9415	genome.wustl.edu	37	chr11	61615735	61615735	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcacgtgtttgttctGggcgaatggcagcccatcga	13	10	1	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:61615735G>C	ENST00000278840.4	+	5	1353	c.723G>C	c.(721-723)ctG>ctC	p.L241L	FADS2_ENST00000257261.6_Silent_p.L219L|FADS2_ENST00000522056.1_Silent_p.L210L|FADS2_ENST00000521849.1_Silent_p.L241L	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	241					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TGTTTGTTCTGGGCGAATGGC	0.537																																																	0								ENSG00000134824						216	169	185					11																	61615735		2202	4299	6501	FADS2	SO:0001819	synonymous_variant	0			-	HGNC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.723G>C	11.37:g.61615735G>C		Somatic	0	111	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP							pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd	p.L241	ENST00000278840.4	37	c.723	CCDS8012.1	11																																																																																			-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase		0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	protein_coding	OTTHUMT00000375586.2	G	NM_004265	-		61615735	1	no_errors	ENST00000278840	ensembl	human	known	74_37	silent	SNP	0.997	C	C	61615735	G	C	61615735	2	2	22	1	0	0	0	0	0	0	0	1	5368	1335	47	4		4	FADS2	11	61615735	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	56242759	61615735	73390781	49	1538											
UBXN1	51035	genome.wustl.edu	37	chr11	62445877	62445877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctccggcagcagaaccaGatcctacaaacaaacaatcg	6	14	1	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:62445877G>A	ENST00000301935.5	-	4	390	c.224C>T	c.(223-225)tCt>tTt	p.S75F	UBXN1_ENST00000529640.1_Missense_Mutation_p.S75F|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Missense_Mutation_p.S75F|UBXN1_ENST00000533000.1_5'Flank			Q04323	UBXN1_HUMAN	UBX domain protein 1	75	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						AGCAGAACCAGATCCTACAAA	0.488																																																	0								ENSG00000162191						208	186	193					11																	62445877		2202	4299	6501	UBXN1	SO:0001583	missense	0			-	HGNC		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.224C>T	11.37:g.62445877G>A	ENSP00000303991:p.Ser75Phe	Somatic	0	83	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	61	23.75	Q9BV93|Q9BVV5	Missense_Mutation	SNP							pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX	p.S75F	ENST00000301935.5	37	c.224		11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206919	0.79127	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000529640;ENST00000534176	T;T;T;T	0.25749	1.78;1.8;1.81;1.81	5.85	5.85	0.93711	.	0.460915	0.26109	N	0.026287	T	0.23171	0.0560	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B	0.30664	0.0;0.011;0.028;0.289;0.0	B;B;B;B;B	0.26094	0.0;0.006;0.007;0.066;0.001	T	0.21621	-1.0240	10	0.72032	D	0.01	0.5978	16.0378	0.80642	0.0:0.0:1.0:0.0	.	75;75;75;75;75	B4DU88;B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;.;UBXN1_HUMAN;.	F	75	ENSP00000294119:S75F;ENSP00000303991:S75F;ENSP00000435964:S75F;ENSP00000435625:S75F	ENSP00000294119:S75F	S	-	2	0	UBXN1	62202453	0.033000	0.19621	0.013000	0.15412	0.969000	0.65631	2.575000	0.46025	2.941000	0.99782	0.655000	0.94253	TCT	-	NULL		0.488	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	protein_coding	OTTHUMT00000395153.1	G	NM_015853	-		62445877	-1	no_errors	ENST00000294119	ensembl	human	known	74_37	missense	SNP	0.018	A	A	62445877	G	A	62445877	3	1	22	1	0	0	0	0	1	0	0	0	16918	942	33	2	734	2	UBXN1	11	62445877	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	830142	62445877	72560639	50	1539											
KCNK4	50801	genome.wustl.edu	37	chr11	64064689	64064689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggatcctactggcagggGtcggggaccggctgggctcc	18	11	0	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:64064689G>T	ENST00000539216.1	+	3	772	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F	KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.V138F|KCNK4_ENST00000394525.2_Missense_Mutation_p.V138F|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000538767.1_Silent_p.G71G			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	138					potassium ion transport (GO:0006813)|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)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						ACTGGCAGGGGTCGGGGACCG	0.627																																																	0								ENSG00000182450						48	51	50					11																	64064689		2201	4297	6498	KCNK4	SO:0001583	missense	0			-	HGNC	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.412G>T	11.37:g.64064689G>T	ENSP00000444948:p.Val138Phe	Somatic	0	55	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	B5TJL1|Q96T94	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.V138F	ENST00000539216.1	37	c.412	CCDS8067.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625988	0.87560	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.25749	1.78;1.78;1.78	5.36	4.44	0.53790	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.52126	1.63	0.53005	D	0.999964	D	0.63046	0.992	D	0.70487	0.969	T	0.28364	-1.0046	10	0.87932	D	0	.	12.1902	0.54266	0.0853:0.0:0.9147:0.0	.	138	Q9NYG8	KCNK4_HUMAN	F	138;163;138;200;138	ENSP00000402797:V138F;ENSP00000378033:V138F;ENSP00000444948:V138F	ENSP00000378033:V138F	V	+	1	0	KCNK4	63821265	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.103000	0.71492	2.521000	0.84997	0.555000	0.69702	GTC	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TASK		0.627	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	protein_coding	OTTHUMT00000396430.1	G	NM_033311	-		64064689	1	no_errors	ENST00000394525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64064689	G	T	64064689	3	4	22	1	0	0	0	0	1	0	0	0	8070	1261	44	3	422	3	KCNK4	11	64064689	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	1618812	64064689	70941827	51	1540											
KRTAP5-7	440050	genome.wustl.edu	37	chr11	71238609	71238609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttctaaggggggctgtgGttcttgtggctgctcccagt	17	8	2	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:71238609G>A	ENST00000398536.4	+	1	297	c.263G>A	c.(262-264)gGt>gAt	p.G88D		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	88	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGGGCTGTGGTTCTTGTGgc	0.647																																																	0								ENSG00000244411						76	101	92					11																	71238609		2200	4294	6494	KRTAP5-7	SO:0001583	missense	0			-	HGNC	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.263G>A	11.37:g.71238609G>A	ENSP00000417330:p.Gly88Asp	Somatic	0	181	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	103	9.65	B2RNM3|Q701N5	Missense_Mutation	SNP							NULL	p.G88D	ENST00000398536.4	37	c.263	CCDS41682.1	11	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.889805	0.00527	.	.	ENSG00000244411	ENST00000398536	T	0.01560	4.77	1.63	1.63	0.23807	.	.	.	.	.	T	0.04137	0.0115	M	0.89840	3.065	0.18873	N	0.999985	D	0.55605	0.972	B	0.42827	0.399	T	0.37776	-0.9691	9	0.13108	T	0.6	.	9.2506	0.37554	0.0:0.0:1.0:0.0	.	88	Q6L8G8	KRA57_HUMAN	D	88	ENSP00000417330:G88D	ENSP00000417330:G88D	G	+	2	0	KRTAP5-7	70916257	1.000000	0.71417	0.192000	0.23308	0.042000	0.13812	1.013000	0.29937	1.227000	0.43598	0.281000	0.19383	GGT	-	NULL		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-7	protein_coding	OTTHUMT00000127953.1	G		-		71238609	1	no_errors	ENST00000398536	ensembl	human	known	74_37	missense	SNP	0.478	A	A	71238609	G	A	71238609	3	1	22	1	0	0	0	0	1	0	0	0	8568	1261	44	2	265	2	KRTAP5-7	11	71238609	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	7173920	71238609	63767907	52	1541											
ATM	472	genome.wustl.edu	37	chr11	108192088	108192088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtattcgctctatccCacacttagcaggttgcaggc	9	12	2	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:108192088C>T	ENST00000452508.2	+	46	6702	c.6513C>T	c.(6511-6513)ccC>ccT	p.P2171P	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.P2171P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2171	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CGCTCTATCCCACACTTAGCA	0.418			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						175	163	167					11																	108192088		2201	4298	6499	ATM	SO:0001819	synonymous_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6513C>T	11.37:g.108192088C>T		Somatic	0	79	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P2171	ENST00000452508.2	37	c.6513	CCDS31669.1	11																																																																																			-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT		0.418	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	C	NM_000051	-		108192088	1	no_errors	ENST00000278616	ensembl	human	known	74_37	silent	SNP	0.001	T	T	108192088	C	T	108192088	2	4	22	1	0	0	0	0	0	0	0	1	1109	581	21	2		2	ATM	11	108192088	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	36953479	108192088	26814428	53	1542											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120331407	120331407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaacaaatgaaggctGttcgaaagagaaatgagacc	11	5	0	5			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr11:120331407G>T	ENST00000397843.2	+	27	2720	c.2554G>T	c.(2554-2556)Gtt>Ttt	p.V852F	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V833F|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.V749F|AP000758.1_ENST00000595283.1_5'Flank	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	852	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AATGAAGGCTGTTCGAAAGAG	0.338			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0								ENSG00000196914						151	150	151					11																	120331407		1829	4074	5903	ARHGEF12	SO:0001583	missense	0			-	HGNC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2554G>T	11.37:g.120331407G>T	ENSP00000380942:p.Val852Phe	Somatic	0	35	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O15086|Q6P526	Missense_Mutation	SNP							pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V833F	ENST00000397843.2	37	c.2497	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515499	0.85389	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68765	-0.35;-0.35;-0.35	5.78	2.92	0.33932	Dbl homology (DH) domain (5);	0.312310	0.22940	N	0.053781	T	0.69869	0.3159	L	0.46741	1.465	0.53688	D	0.99997	P;D;D	0.63046	0.659;0.99;0.992	P;P;P	0.61658	0.547;0.827;0.892	T	0.64089	-0.6489	10	0.22109	T	0.4	-9.1543	10.7462	0.46181	0.2045:0.0:0.7955:0.0	.	749;833;852	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	F	852;833;749	ENSP00000380942:V852F;ENSP00000349056:V833F;ENSP00000432984:V749F	ENSP00000349056:V833F	V	+	1	0	ARHGEF12	119836617	0.940000	0.31905	1.000000	0.80357	0.983000	0.72400	1.263000	0.33004	0.813000	0.34350	0.555000	0.69702	GTT	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.338	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	protein_coding	OTTHUMT00000388052.1	G	NM_015313	-		120331407	1	no_errors	ENST00000356641	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120331407	G	T	120331407	3	4	22	1	0	0	0	0	1	0	0	0	897	1377	48	3	2660	3	ARHGEF12	11	120331407	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	12139319	120331407	14675109	54	1543											
CD63	967	genome.wustl.edu	37	chr12	56120701	56120701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaacacatagccagcaatGgctgcggccacctccaccaa	7	16	0	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr12:56120701G>A	ENST00000549117.1	-	4	739	c.303C>T	c.(301-303)gcC>gcT	p.A101A	CD63_ENST00000552692.1_Silent_p.A101A|CD63_ENST00000550776.1_Silent_p.A19A|CD63_ENST00000548898.1_Silent_p.A8A|CD63_ENST00000546939.1_Silent_p.A19A|CD63_ENST00000552067.1_Silent_p.A8A|CD63_ENST00000552754.1_Silent_p.A78A|CD63_ENST00000548160.1_Silent_p.A8A|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000257857.4_Silent_p.A101A|CD63_ENST00000420846.3_Silent_p.A101A	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	101					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AGCCAGCAATGGCTGCGGCCA	0.517																																					Pancreas(123;1459 1747 6717 18841 37380)												0								ENSG00000135404						150	163	159					12																	56120701		2203	4300	6503	CD63	SO:0001819	synonymous_variant	0			-	HGNC	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.303C>T	12.37:g.56120701G>A		Somatic	0	40	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP							pfam_Tetraspanin/Peripherin,prints_Tetraspanin	p.P101L	ENST00000549117.1	37	c.302	CCDS8890.1	12																																																																																			-	NULL		0.517	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	protein_coding	OTTHUMT00000409234.1	G		-		56120701	-1	no_errors	ENST00000550050	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56120701	G	A	56120701	2	1	22	1	0	0	0	0	0	0	0	1	3031	1335	47	2		2	CD63	12	56120701	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		56120701	77731194	55	1544											
BAZ2A	11176	genome.wustl.edu	37	chr12	57011222	57011222	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgggagacccgttagtgtaGaggccctcccctgaggaagg	15	10	0	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr12:57011222G>A	ENST00000551812.1	-	2	292	c.99C>T	c.(97-99)ctC>ctT	p.L33L	BAZ2A_ENST00000379441.3_Silent_p.L33L|BAZ2A_ENST00000179765.5_Silent_p.L31L|BAZ2A_ENST00000549884.1_Silent_p.L31L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	33					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CGTTAGTGTAGAGGCCCTCCC	0.567																																																	0								ENSG00000076108						37	40	39					12																	57011222		1953	4140	6093	BAZ2A	SO:0001819	synonymous_variant	0			-	HGNC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.99C>T	12.37:g.57011222G>A		Somatic	0	71	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L33	ENST00000551812.1	37	c.99	CCDS44924.1	12																																																																																			-	NULL		0.567	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	G	NM_013449	-		57011222	-1	no_errors	ENST00000551812	ensembl	human	known	74_37	silent	SNP	1.000	A	A	57011222	G	A	57011222	2	1	22	1	0	0	0	0	0	0	0	1	1331	929	33	2		2	BAZ2A	12	57011222	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	890521	57011222	76840673	56	1545											
GLI1	2735	genome.wustl.edu	37	chr12	57865299	57865299	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccaggaaccttcctacCagagtcccaagtttctgggg	10	15	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr12:57865299C>T	ENST00000228682.2	+	12	2867	c.2776C>T	c.(2776-2778)Cag>Tag	p.Q926*	GLI1_ENST00000543426.1_Nonsense_Mutation_p.Q798*|GLI1_ENST00000546141.1_Nonsense_Mutation_p.Q885*	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	926					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCTTCCTACCAGAGTCCCAA	0.552																																					Pancreas(157;841 1936 10503 41495 50368)												0								ENSG00000111087						36	39	38					12																	57865299		2203	4300	6503	GLI1	SO:0001587	stop_gained	0			-	HGNC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2776C>T	12.37:g.57865299C>T	ENSP00000228682:p.Gln926*	Somatic	0	23	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	4	69.23	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Nonsense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q926*	ENST00000228682.2	37	c.2776	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.029879	0.97216	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	.	.	.	4.53	2.69	0.31865	.	0.000000	0.40908	D	0.000991	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	4.4193	0.11472	0.0:0.6219:0.2195:0.1586	.	.	.	.	X	798;926;885;885;394	.	ENSP00000228682:Q926X	Q	+	1	0	GLI1	56151566	0.446000	0.25665	1.000000	0.80357	0.938000	0.57974	1.655000	0.37345	1.258000	0.44101	-0.273000	0.10243	CAG	-	NULL		0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	protein_coding	OTTHUMT00000394197.1	C	NM_005269	-		57865299	1	no_errors	ENST00000228682	ensembl	human	known	74_37	nonsense	SNP	0.967	T	T	57865299	C	T	57865299	4	4	22	1	0	0	0	0	0	1	0	0	6439	595	21	2	2818	2	GLI1	12	57865299	Nonsense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	854077	57865299	75986596	57	1546											
CTDSP2	10106	genome.wustl.edu	37	chr12	58223339	58223340	+	Frame_Shift_Del	DEL	AC	AC	-													aaaagggccttgaagatgttAcgtccacgaggcttcttagg							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr12:58223339_58223340delAC	ENST00000398073.2	-	2	407_408	c.104_105delGT	c.(103-105)cgtfs	p.R35fs	CTDSP2_ENST00000548823.1_Frame_Shift_Del_p.R35fs|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	35					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)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TGAAGATGTTACGTCCACGAGG	0.52																																																	0								ENSG00000175215																																			CTDSP2	SO:0001589	frameshift_variant	0				HGNC	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.104_105delGT	12.37:g.58223339_58223340delAC	ENSP00000381148:p.Arg35fs	Somatic	0	99	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	41	48.10	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Frame_Shift_Del	DEL							pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.R35fs	ENST00000398073.2	37	c.105_104	CCDS41801.1	12																																																																																			-	NULL		0.52	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP2	protein_coding	OTTHUMT00000409353.1	AC	NM_005730			58223340	-1	no_errors	ENST00000398073	ensembl	human	known	74_37	frame_shift_del	DEL	0.992:1.000	-	-	58223340	AC	-	58223339	7	5	22	1	0	1	0	1	0	0	0	0	4006	378	14	0	738	0	CTDSP2	12	58223339	Frame_Shift_Del	DEL	AC	TCGA-DX-A1KY-01A-11D-A24N-09	358040	58223339	75628556	58	1547											
ACAD10	80724	genome.wustl.edu	37	chr12	112174704	112174704	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatttcaggatgtactgtcTccaaatggggctccctccca	9	12	2	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr12:112174704T>A	ENST00000313698.4	+	12	1765	c.1610T>A	c.(1609-1611)cTc>cAc	p.L537H	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.L568H|ACAD10_ENST00000549590.1_Missense_Mutation_p.L537H|ACAD10_ENST00000392636.2_Missense_Mutation_p.L139H	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	537						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATGTACTGTCTCCAAATGGGG	0.488																																																	0								ENSG00000111271						134	120	125					12																	112174704		2203	4300	6503	ACAD10	SO:0001583	missense	0			-	HGNC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1610T>A	12.37:g.112174704T>A	ENSP00000325137:p.Leu537His	Somatic	0	52	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	15	60.53	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.L568H	ENST00000313698.4	37	c.1703	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	T	3.211	-0.161687	0.06502	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.29	0.894	0.19242	Protein kinase-like domain (1);	1.124420	0.06475	N	0.731781	T	0.25568	0.0622	L	0.42245	1.32	0.09310	N	1	B;B;B	0.13145	0.003;0.002;0.007	B;B;B	0.15052	0.012;0.004;0.01	T	0.30416	-0.9979	10	0.45353	T	0.12	.	5.5631	0.17154	0.3787:0.0:0.2072:0.414	.	568;537;537	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	H	139;537;537;568;537	ENSP00000376411:L139H;ENSP00000446959:L537H;ENSP00000389813:L568H;ENSP00000325137:L537H	ENSP00000325137:L537H	L	+	2	0	ACAD10	110659087	0.000000	0.05858	0.079000	0.20413	0.274000	0.26718	-0.740000	0.04861	0.303000	0.22785	0.459000	0.35465	CTC	-	superfamily_Kinase-like_dom		0.488	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	protein_coding	OTTHUMT00000368307.1	T	NM_025247	-		112174704	1	no_errors	ENST00000455480	ensembl	human	known	74_37	missense	SNP	0.000	A	A	112174704	T	A	112174704	3	1	22	1	0	0	0	0	1	0	0	0	108	1551	54	5	1749	5	ACAD10	12	112174704	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	53951365	112174704	21677191	59	1548											
PIWIL1	9271	genome.wustl.edu	37	chr12	130831088	130831088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggaaagtgtcatgcttttGatggaacgatattattttta	9	3	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr12:130831088G>T	ENST00000245255.3	+	5	762	c.490G>T	c.(490-492)Gat>Tat	p.D164Y		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	164					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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCATGCTTTTGATGGAACGAT	0.388																																																	0								ENSG00000125207						97	94	95					12																	130831088		2203	4300	6503	PIWIL1	SO:0001583	missense	0			-	HGNC	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.490G>T	12.37:g.130831088G>T	ENSP00000245255:p.Asp164Tyr	Somatic	0	64	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.D164Y	ENST00000245255.3	37	c.490	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845861	0.91277	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000542723;ENST00000540672	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.043237	0.85682	D	0.000000	T	0.44685	0.1305	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.53753	-0.8394	10	0.87932	D	0	-1.9736	18.8981	0.92432	0.0:0.0:1.0:0.0	.	164;164	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Y	164;164;164;25	ENSP00000245255:D164Y;ENSP00000442086:D164Y;ENSP00000438582:D164Y;ENSP00000441695:D25Y	ENSP00000245255:D164Y	D	+	1	0	PIWIL1	129397041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.833000	0.99426	2.691000	0.91804	0.650000	0.86243	GAT	-	superfamily_PAZ_dom		0.388	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	protein_coding	OTTHUMT00000399510.1	G		-		130831088	1	no_errors	ENST00000245255	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130831088	G	T	130831088	3	4	22	1	0	0	0	0	1	0	0	0	11959	1290	45	3	504	3	PIWIL1	12	130831088	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	18656384	130831088	3020807	60	1549											
DCT	1638	genome.wustl.edu	37	chr13	95121205	95121205	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcctgaggactcaaggaatgGatgttctgccgaatcactgg	12	9	3	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr13:95121205G>C	ENST00000377028.5	-	2	803	c.390C>G	c.(388-390)atC>atG	p.I130M	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.I130M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	130					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)			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)		TCAAGGAATGGATGTTCTGCC	0.522																																																	0								ENSG00000080166						203	205	204					13																	95121205		2203	4300	6503	DCT	SO:0001583	missense	0			-	HGNC	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.390C>G	13.37:g.95121205G>C	ENSP00000366227:p.Ile130Met	Somatic	0	63	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	Q09GT4	Missense_Mutation	SNP							pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.I130M	ENST00000377028.5	37	c.390	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345518	0.61073	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99070	-5.39;-5.39	5.79	2.11	0.27256	Uncharacterised domain, di-copper centre (2);	0.044846	0.85682	D	0.000000	D	0.99214	0.9727	H	0.95043	3.615	0.58432	D	0.999997	D;P	0.60160	0.987;0.951	P;P	0.60473	0.875;0.549	D	0.99110	1.0846	9	.	.	.	-19.876	7.3381	0.26621	0.1925:0.0:0.6889:0.1186	.	130;130	Q09GT4;P40126	.;TYRP2_HUMAN	M	130	ENSP00000366227:I130M;ENSP00000392762:I130M	.	I	-	3	3	DCT	93919206	1.000000	0.71417	0.942000	0.38095	0.850000	0.48378	3.268000	0.51585	0.366000	0.24427	0.655000	0.94253	ATC	-	superfamily_Unchr_di-copper_centre		0.522	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	protein_coding	OTTHUMT00000045461.3	G		-		95121205	-1	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	SNP	1.000	C	C	95121205	G	C	95121205	3	2	22	1	0	0	0	0	1	0	0	0	4306	1164	41	4	1304	4	DCT	13	95121205	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		95121205	20048673	61	1550											
ACTN1	87	genome.wustl.edu	37	chr14	69350935	69350935	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctgcaggtcctccaTggccccctccatccagttgt	10	16	0	0	rs564524574		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr14:69350935T>A	ENST00000193403.6	-	14	1968	c.1585A>T	c.(1585-1587)Atg>Ttg	p.M529L	ACTN1_ENST00000394419.4_Missense_Mutation_p.M529L|ACTN1_ENST00000538545.2_Missense_Mutation_p.M529L|ACTN1_ENST00000376839.3_Missense_Mutation_p.M464L|ACTN1_ENST00000438964.2_Missense_Mutation_p.M529L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	529	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGGTCCTCCATGGCCCCCTCC	0.627																																																	0								ENSG00000072110						97	80	86					14																	69350935		2203	4300	6503	ACTN1	SO:0001583	missense	0			-	HGNC	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1585A>T	14.37:g.69350935T>A	ENSP00000193403:p.Met529Leu	Somatic	0	144	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	9	78.57	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.M529L	ENST00000193403.6	37	c.1585	CCDS9792.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.515821|2.515821	0.44763|0.44763	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	.|T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50309|0.50309	0.1608|0.1608	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.16396	.|0.017;0.012;0.0;0.0;0.003	.|B;B;B;B;B	.|0.25759	.|0.063;0.043;0.014;0.014;0.011	T|T	0.49872|0.49872	-0.8893|-0.8893	5|10	.|0.33141	.|T	.|0.24	.|.	14.5916|14.5916	0.68368|0.68368	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|160;529;529;529;176	.|B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.|.;.;.;ACTN1_HUMAN;.	L|L	29|529;529;529;464;529;119	.|ENSP00000193403:M529L;ENSP00000377941:M529L;ENSP00000414272:M529L;ENSP00000366035:M464L;ENSP00000439828:M529L;ENSP00000444422:M119L	.|ENSP00000193403:M529L	H|M	-|-	2|1	0|0	ACTN1|ACTN1	68420688|68420688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.086000|6.086000	0.71352|0.71352	2.100000|2.100000	0.63781|0.63781	0.533000|0.533000	0.62120|0.62120	CAT|ATG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.627	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	protein_coding	OTTHUMT00000413233.3	T	NM_001102	-		69350935	-1	no_errors	ENST00000394419	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69350935	T	A	69350935	3	1	22	1	0	0	0	0	1	0	0	0	204	1464	51	5	1195	5	ACTN1	14	69350935	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09		69350935	37998605	62	1551											
DPF3	8110	genome.wustl.edu	37	chr14	73190401	73190401	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccaaatcctcttcttcattCccttcttctacattttcatc	0	15	6	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr14:73190401C>G	ENST00000556509.1	-	5	464	c.465G>C	c.(463-465)ggG>ggC	p.G155G	DPF3_ENST00000541685.1_Silent_p.G155G|DPF3_ENST00000546183.1_Silent_p.G165G|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	155					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCATTCCCTTCTTCTA	0.403																																																	0								ENSG00000205683						228	225	226					14																	73190401		1852	4102	5954	DPF3	SO:0001819	synonymous_variant	0			-	HGNC	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.465G>C	14.37:g.73190401C>G		Somatic	0	145	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	16	61.90	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G210	ENST00000556509.1	37	c.630		14																																																																																			-	NULL		0.403	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	protein_coding	OTTHUMT00000413152.2	C		-		73190401	-1	no_errors	ENST00000366353	ensembl	human	known	74_37	silent	SNP	0.989	G	G	73190401	C	G	73190401	2	3	22	1	0	0	0	0	0	0	0	1	4720	842	30	4		4	DPF3	14	73190401	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	3839466	73190401	34159139	63	1552											
C14orf45	80127	genome.wustl.edu	37	chr14	74512807	74512808	+	Frame_Shift_Del	DEL	AG	AG	-													aagaagataataatgctagcAgagagagcccaccatgaggc							TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr14:74512807_74512808delAG	ENST00000394009.3	+	6	744_745	c.621_622delAG	c.(619-624)gcagagfs	p.E208fs	CCDC176_ENST00000553773.1_Intron|CCDC176_ENST00000489323.1_3'UTR|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	208					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											TAATGCTAGCAGAGAGAGCCCA	0.396																																																	0								ENSG00000119636																																			CCDC176	SO:0001589	frameshift_variant	0				HGNC	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.621_622delAG	14.37:g.74512813_74512814delAG	ENSP00000377577:p.Glu208fs	Somatic	0	36	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	Q0P604|Q9H5P8	Frame_Shift_Del	DEL							NULL	p.R209fs	ENST00000394009.3	37	c.621_622	CCDS32119.2	14																																																																																			-	NULL		0.396	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC176	protein_coding	OTTHUMT00000327863.1	AG	NM_025057			74512808	1	no_errors	ENST00000394009	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	74512808	AG	-	74512807	7	5	22	1	0	1	0	1	0	0	0	0	1777	175	7	0	643	0	C14orf45	14	74512807	Frame_Shift_Del	DEL	AG	TCGA-DX-A1KY-01A-11D-A24N-09	1322406	74512807	32836733	64	1553											
CHRNB4	1143	genome.wustl.edu	37	chr15	78921713	78921713	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgagcacacagacgctggTgacgatggagaaggtgacca	14	8	0	5			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr15:78921713T>A	ENST00000261751.3	-	5	1045	c.934A>T	c.(934-936)Acc>Tcc	p.T312S	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	312					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CAGACGCTGGTGACGATGGAG	0.597																																																	0								ENSG00000117971						133	108	117					15																	78921713		2196	4293	6489	CHRNB4	SO:0001583	missense	0			-	HGNC	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.934A>T	15.37:g.78921713T>A	ENSP00000261751:p.Thr312Ser	Somatic	0	83	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T312S	ENST00000261751.3	37	c.934	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	T	27.0	4.790046	0.90367	.	.	ENSG00000117971	ENST00000261751	D	0.85556	-2.0	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	L	0.37466	1.105	0.80722	D	1	P	0.45212	0.853	P	0.51415	0.669	D	0.86949	0.2084	10	0.62326	D	0.03	.	15.7134	0.77649	0.0:0.0:0.0:1.0	.	312	P30926	ACHB4_HUMAN	S	312	ENSP00000261751:T312S	ENSP00000261751:T312S	T	-	1	0	CHRNB4	76708768	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.987000	0.88182	2.130000	0.65690	0.533000	0.62120	ACC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.597	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	protein_coding	OTTHUMT00000290108.1	T		-		78921713	-1	no_errors	ENST00000261751	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78921713	T	A	78921713	3	1	22	1	0	0	0	0	1	0	0	0	3395	1696	59	5	570	5	CHRNB4	15	78921713	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09		78921713	23609679	65	1554											
NEURL4	84461	genome.wustl.edu	37	chr17	7230036	7230036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggactttgcacacctcaaaCatctcattgtcccgaagggg	9	12	2	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:7230036C>T	ENST00000399464.2	-	4	1101	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	NEURL4_ENST00000570460.1_Missense_Mutation_p.M340I|NEURL4_ENST00000315614.7_Missense_Mutation_p.M362I	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	362	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						ACACCTCAAACATCTCATTGT	0.557																																																	0								ENSG00000215041						36	37	37					17																	7230036		1951	4140	6091	NEURL4	SO:0001583	missense	0			-	HGNC		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.1086G>A	17.37:g.7230036C>T	ENSP00000382390:p.Met362Ile	Somatic	0	29	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP							pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.M362I	ENST00000399464.2	37	c.1086	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266153	0.80358	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.31510	1.5;1.49	4.79	4.79	0.61399	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.04355	-0.22	0.48830	D	0.999717	B;B	0.20052	0.041;0.027	B;B	0.28385	0.054;0.089	T	0.09378	-1.0677	10	0.51188	T	0.08	-29.8545	15.2186	0.73292	0.0:1.0:0.0:0.0	.	362;362	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	362	ENSP00000319826:M362I;ENSP00000382390:M362I	ENSP00000319826:M362I	M	-	3	0	NEURL4	7170760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.127000	0.77210	2.653000	0.90120	0.655000	0.94253	ATG	-	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z		0.557	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	protein_coding	OTTHUMT00000255434.2	C	NM_032442	-		7230036	-1	no_errors	ENST00000399464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7230036	C	T	7230036	3	4	22	1	0	0	0	0	1	0	0	0	10349	478	17	2	3706	2	NEURL4	17	7230036	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		7230036	73965174	66	1555											
KDM6B	23135	genome.wustl.edu	37	chr17	7752697	7752697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcgaggagatccagggtCgtgagaagtcccggcccgat	16	10	0	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:7752697C>T	ENST00000448097.2	+	11	3422	c.3091C>T	c.(3091-3093)Cgt>Tgt	p.R1031C	KDM6B_ENST00000254846.5_Missense_Mutation_p.R1031C			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1031					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GATCCAGGGTCGTGAGAAGTC	0.672																																																	0								ENSG00000132510						14	12	13					17																	7752697		2183	4276	6459	KDM6B	SO:0001583	missense	0			-	HGNC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3091C>T	17.37:g.7752697C>T	ENSP00000412513:p.Arg1031Cys	Somatic	0	59	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	41	45.33	C9IZ40|Q96G33	Missense_Mutation	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R1031C	ENST00000448097.2	37	c.3091		17	.	.	.	.	.	.	.	.	.	.	C	4.156	0.027342	0.08054	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.39229	1.09;1.1	3.67	3.67	0.42095	.	.	.	.	.	T	0.41328	0.1154	N	0.19112	0.55	0.46241	D	0.998943	D;D	0.89917	0.991;1.0	P;P	0.59487	0.586;0.858	T	0.37009	-0.9724	9	0.87932	D	0	-5.5574	8.6805	0.34205	0.0:0.8906:0.0:0.1094	.	1031;1031	O15054;O15054-1	KDM6B_HUMAN;.	C	1031	ENSP00000254846:R1031C;ENSP00000412513:R1031C	ENSP00000254846:R1031C	R	+	1	0	KDM6B	7693422	0.829000	0.29322	0.956000	0.39512	0.153000	0.21895	1.648000	0.37271	2.074000	0.62210	0.462000	0.41574	CGT	-	NULL		0.672	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	protein_coding	OTTHUMT00000440248.1	C	XM_043272	-		7752697	1	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	SNP	0.933	T	T	7752697	C	T	7752697	3	4	22	1	0	0	0	0	1	0	0	0	8140	884	31	1	3121	1	KDM6B	17	7752697	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	522661	7752697	73442513	67	1556											
DHRS13	147015	genome.wustl.edu	37	chr17	27225817	27225817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggtgtctgggcaccccctCttggtgcccggagcaccagc	15	15	2	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:27225817C>G	ENST00000378895.4	-	5	902	c.776G>C	c.(775-777)aGa>aCa	p.R259T	DHRS13_ENST00000426464.2_Missense_Mutation_p.R178T|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.R209T|FLOT2_ENST00000394908.4_5'Flank|FLOT2_ENST00000394906.2_5'Flank|RP11-20B24.4_ENST00000580603.1_RNA|FLOT2_ENST00000577789.1_5'Flank|FLOT2_ENST00000585169.1_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	259						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGCACCCCCTCTTGGTGCCCG	0.602																																																	0								ENSG00000167536						13	14	14					17																	27225817		2203	4297	6500	DHRS13	SO:0001583	missense	0			-	HGNC	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.776G>C	17.37:g.27225817C>G	ENSP00000368173:p.Arg259Thr	Somatic	0	72	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	Q96BH7	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.R259T	ENST00000378895.4	37	c.776	CCDS11246.2	17	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122933	0.37436	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.89415	-2.51;-2.51;-2.51	5.48	0.619	0.17630	NAD(P)-binding domain (1);	0.840788	0.11162	N	0.592920	T	0.80270	0.4592	L	0.39898	1.24	0.09310	N	1	B;B	0.26547	0.152;0.039	B;B	0.24006	0.05;0.023	T	0.67063	-0.5765	10	0.44086	T	0.13	.	1.798	0.03065	0.1341:0.434:0.2118:0.22	.	178;259	B4DJC5;Q6UX07	.;DHR13_HUMAN	T	259;209;178	ENSP00000368173:R259T;ENSP00000378361:R209T;ENSP00000412826:R178T	ENSP00000368173:R259T	R	-	2	0	DHRS13	24249943	0.000000	0.05858	0.320000	0.25306	0.954000	0.61252	0.087000	0.14958	0.133000	0.18654	0.561000	0.74099	AGA	-	NULL		0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS13	protein_coding	OTTHUMT00000255952.1	C	NM_144683	-		27225817	-1	no_errors	ENST00000378895	ensembl	human	known	74_37	missense	SNP	0.001	G	G	27225817	C	G	27225817	3	3	22	1	0	0	0	0	1	0	0	0	4491	913	32	4	361	4	DHRS13	17	27225817	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	19473120	27225817	53969393	68	1557											
UNC45B	146862	genome.wustl.edu	37	chr17	33491118	33491118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctatcctcatcaacaagCtctatgatgacctgcgctgt	6	14	4	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:33491118C>A	ENST00000268876.5	+	9	1181	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	UNC45B_ENST00000378449.1_Missense_Mutation_p.L362I|UNC45B_ENST00000591048.1_Missense_Mutation_p.L362I|UNC45B_ENST00000433649.1_Missense_Mutation_p.L362I|UNC45B_ENST00000394570.2_Missense_Mutation_p.L362I|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	362					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)				CATCAACAAGCTCTATGATGA	0.557																																																	0								ENSG00000141161						199	185	190					17																	33491118		2203	4300	6503	UNC45B	SO:0001583	missense	0			-	HGNC	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.1084C>A	17.37:g.33491118C>A	ENSP00000268876:p.Leu362Ile	Somatic	0	51	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q495Q8|Q495Q9	Missense_Mutation	SNP							pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L362I	ENST00000268876.5	37	c.1084	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626709	0.46840	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.54	4.54	0.55810	.	0.125169	0.53938	D	0.000055	T	0.57519	0.2059	L	0.47716	1.5	0.40657	D	0.982096	P;D;D	0.89917	0.938;1.0;0.977	P;D;P	0.87578	0.69;0.998;0.896	T	0.50890	-0.8774	10	0.05959	T	0.93	-14.5627	16.8198	0.85743	0.0:1.0:0.0:0.0	.	362;362;362	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	I	362	ENSP00000378071:L362I;ENSP00000268876:L362I;ENSP00000412840:L362I;ENSP00000367710:L362I	ENSP00000268876:L362I	L	+	1	0	UNC45B	30515231	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	4.653000	0.61462	2.530000	0.85305	0.561000	0.74099	CTC	-	pfam_UNC-45/Ring3		0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	protein_coding	OTTHUMT00000256458.2	C	NM_173167	-		33491118	1	no_errors	ENST00000268876	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33491118	C	A	33491118	3	1	22	1	0	0	0	0	1	0	0	0	16996	797	28	3	1114	3	UNC45B	17	33491118	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	6265301	33491118	47704092	69	1558											
SLFN5	162394	genome.wustl.edu	37	chr17	33592430	33592430	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcccgacaaaatccTccacctaacctcccccctgg	6	19	0	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:33592430T>G	ENST00000299977.4	+	5	2347	c.2199T>G	c.(2197-2199)ccT>ccG	p.P733P	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	733					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GACAAAATCCTCCACCTAACC	0.483																																																	0								ENSG00000166750						91	95	94					17																	33592430		2203	4300	6503	SLFN5	SO:0001819	synonymous_variant	0			-	HGNC	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2199T>G	17.37:g.33592430T>G		Somatic	0	80	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	Q08AF2|Q8WU54|Q96A82	Silent	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P733	ENST00000299977.4	37	c.2199	CCDS32619.1	17																																																																																			-	superfamily_P-loop_NTPase		0.483	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	protein_coding	OTTHUMT00000448649.2	T	NM_144975	-		33592430	1	no_errors	ENST00000299977	ensembl	human	known	74_37	silent	SNP	0.037	G	G	33592430	T	G	33592430	2	3	22	1	0	0	0	0	0	0	0	1	14745	1538	54	5		5	SLFN5	17	33592430	Silent	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09	101312	33592430	47602780	70	1559											
ANKRD40	91369	genome.wustl.edu	37	chr17	48776876	48776876	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggcttggacgggacagaaGaaaacagggagcggctctga	17	7	1	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:48776876G>A	ENST00000285243.6	-	3	931	c.662C>T	c.(661-663)tCt>tTt	p.S221F	Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	221	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CGGGACAGAAGAAAACAGGGA	0.542																																																	0								ENSG00000154945						124	132	130					17																	48776876		2203	4300	6503	ANKRD40	SO:0001583	missense	0			-	HGNC	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.662C>T	17.37:g.48776876G>A	ENSP00000285243:p.Ser221Phe	Somatic	0	135	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	Q96E32	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S221F	ENST00000285243.6	37	c.662	CCDS11572.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139893	0.77775	.	.	ENSG00000154945	ENST00000285243	T	0.26518	1.73	5.17	5.17	0.71159	.	0.125086	0.56097	D	0.000039	T	0.25865	0.0630	L	0.29908	0.895	0.47065	D	0.999304	D	0.54772	0.968	P	0.48368	0.575	T	0.01500	-1.1339	10	0.72032	D	0.01	-13.3908	12.8684	0.57951	0.0854:0.0:0.9146:0.0	.	221	Q6AI12	ANR40_HUMAN	F	221	ENSP00000285243:S221F	ENSP00000285243:S221F	S	-	2	0	ANKRD40	46131875	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.821000	0.55700	2.567000	0.86603	0.650000	0.86243	TCT	-	NULL		0.542	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	protein_coding	OTTHUMT00000368201.2	G	NM_052855	-		48776876	-1	no_errors	ENST00000285243	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48776876	G	A	48776876	3	1	22	1	0	0	0	0	1	0	0	0	669	942	33	2	456	2	ANKRD40	17	48776876	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	15184446	48776876	32418334	71	1560											
ITGB4	3691	genome.wustl.edu	37	chr17	73753572	73753572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacccaggagtttgtgaGccggacactgaccaccagcg	13	12	0	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr17:73753572G>T	ENST00000200181.3	+	40	5592	c.5405G>T	c.(5404-5406)aGc>aTc	p.S1802I	ITGB4_ENST00000339591.3_Missense_Mutation_p.S1785I|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1732I|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1785I|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1732I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1802					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGTTTGTGAGCCGGACACTG	0.637																																																	0								ENSG00000132470						77	72	74					17																	73753572		2203	4300	6503	ITGB4	SO:0001583	missense	0			-	HGNC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.5405G>T	17.37:g.73753572G>T	ENSP00000200181:p.Ser1802Ile	Somatic	0	35	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP							pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.S1802I	ENST00000200181.3	37	c.5405	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237139	0.22711	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76839	-1.05;-0.99;-0.99	4.17	1.93	0.25924	.	0.212284	0.43579	D	0.000545	T	0.76307	0.3969	L	0.54323	1.7	0.80722	D	1	P;B;P	0.37781	0.512;0.378;0.608	B;B;B	0.42653	0.394;0.221;0.221	T	0.79135	-0.1928	10	0.87932	D	0	.	14.5315	0.67929	0.0:0.5344:0.4656:0.0	.	1785;1732;1802	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	I	1802;1785;1785	ENSP00000200181:S1802I;ENSP00000344079:S1785I;ENSP00000400217:S1785I	ENSP00000200181:S1802I	S	+	2	0	ITGB4	71265167	1.000000	0.71417	0.993000	0.49108	0.677000	0.39632	1.489000	0.35562	0.718000	0.32166	0.462000	0.41574	AGC	-	pirsf_Integrin_bsu-4		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	protein_coding	OTTHUMT00000448334.1	G		-		73753572	1	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	SNP	0.998	T	T	73753572	G	T	73753572	3	4	22	1	0	0	0	0	1	0	0	0	7899	971	34	3	5722	3	ITGB4	17	73753572	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	24976696	73753572	7441638	72	1561											
LAMA1	284217	genome.wustl.edu	37	chr18	7032079	7032079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcacaatgcaaacgccgtGaacattacactcagctgcat	6	13	2	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr18:7032079G>A	ENST00000389658.3	-	16	2353	c.2260C>T	c.(2260-2262)Cac>Tac	p.H754Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	754	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)				CAAACGCCGTGAACATTACAC	0.478																																																	0								ENSG00000101680						119	98	105					18																	7032079		2203	4300	6503	LAMA1	SO:0001583	missense	0			-	HGNC	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.2260C>T	18.37:g.7032079G>A	ENSP00000374309:p.His754Tyr	Somatic	0	51	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27		Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.H754Y	ENST00000389658.3	37	c.2260	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633914	0.47049	.	.	ENSG00000101680	ENST00000389658	T	0.61392	0.11	5.39	5.39	0.77823	EGF-like, laminin (3);	0.607393	0.16043	N	0.232330	T	0.56630	0.1998	L	0.33668	1.02	0.09310	N	1	D	0.54047	0.964	P	0.49252	0.604	T	0.51616	-0.8683	10	0.31617	T	0.26	.	17.3336	0.87274	0.0:0.0:1.0:0.0	.	754	P25391	LAMA1_HUMAN	Y	754	ENSP00000374309:H754Y	ENSP00000374309:H754Y	H	-	1	0	LAMA1	7022079	0.998000	0.40836	0.045000	0.18777	0.003000	0.03518	2.676000	0.46883	2.512000	0.84698	0.655000	0.94253	CAC	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559	-		7032079	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	0.025	A	A	7032079	G	A	7032079	3	1	22	1	0	0	0	0	1	0	0	0	8607	1290	45	2	7159	2	LAMA1	18	7032079	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		7032079	71045169	73	1562											
PTPRM	5797	genome.wustl.edu	37	chr18	7888142	7888142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcctctgggagacctgagGggcagagagcccacctgctc	14	13	1	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr18:7888142G>T	ENST00000332175.8	+	3	1272	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	PTPRM_ENST00000400053.4_Missense_Mutation_p.G17W|PTPRM_ENST00000400060.4_Missense_Mutation_p.G79W|PTPRM_ENST00000580170.1_Missense_Mutation_p.G79W	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	79	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGACCTGAGGGGCAGAGAGC	0.458																																																	0								ENSG00000173482						170	179	176					18																	7888142		2203	4300	6503	PTPRM	SO:0001583	missense	0			-	HGNC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.235G>T	18.37:g.7888142G>T	ENSP00000331418:p.Gly79Trp	Somatic	0	39	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G79W	ENST00000332175.8	37	c.235	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737916	0.69304	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.03094	4.05;4.05;4.05	5.73	3.73	0.42828	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.294002	0.37219	N	0.002188	T	0.10937	0.0267	M	0.91196	3.185	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.15484	0.013;0.013	T	0.03483	-1.1032	10	0.87932	D	0	.	14.171	0.65510	0.0:0.1091:0.7651:0.1258	.	79;79	A7MBN1;P28827	.;PTPRM_HUMAN	W	79;79;17	ENSP00000331418:G79W;ENSP00000382933:G79W;ENSP00000382927:G17W	ENSP00000331418:G79W	G	+	1	0	PTPRM	7878142	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	5.577000	0.67444	1.401000	0.46761	0.655000	0.94253	GGG	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.458	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	G		-		7888142	1	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	SNP	0.963	T	T	7888142	G	T	7888142	3	4	22	1	0	0	0	0	1	0	0	0	12814	1232	43	3	245	3	PTPRM	18	7888142	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	856063	7888142	70189106	74	1563											
MATK	4145	genome.wustl.edu	37	chr19	3779407	3779407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagctgagcggtgttcaCgagggctcgaccccgggtcc	16	13	1	1	rs374133861		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:3779407C>A	ENST00000310132.6	-	11	1368	c.970G>T	c.(970-972)Gtg>Ttg	p.V324L	MATK_ENST00000585778.1_Missense_Mutation_p.V324L|MATK_ENST00000395040.2_Missense_Mutation_p.V283L|MATK_ENST00000395045.2_Missense_Mutation_p.V325L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTGTTCACGAGGGCTCGA	0.652																																																	0								ENSG00000007264						46	49	48					19																	3779407		2203	4300	6503	MATK	SO:0001583	missense	0			-	HGNC	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.970G>T	19.37:g.3779407C>A	ENSP00000308734:p.Val324Leu	Somatic	0	46	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25	B3KNZ9|Q9NST8	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V325L	ENST00000310132.6	37	c.973	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748690	0.30955	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.55588	0.51;0.51;0.51	3.52	3.52	0.40303	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.346320	0.25701	N	0.028864	T	0.25606	0.0623	N	0.00611	-1.325	0.43508	D	0.995769	D;P;D	0.53151	0.958;0.943;0.958	P;P;P	0.50570	0.644;0.627;0.644	T	0.36432	-0.9748	10	0.02654	T	1	-38.7195	14.618	0.68562	0.0:1.0:0.0:0.0	.	324;325;324	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	L	325;324;283	ENSP00000378485:V325L;ENSP00000308734:V324L;ENSP00000378481:V283L	ENSP00000308734:V324L	V	-	1	0	MATK	3730407	0.782000	0.28689	0.235000	0.24058	0.859000	0.49053	1.550000	0.36223	1.990000	0.58119	0.306000	0.20318	GTG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	protein_coding	OTTHUMT00000453639.1	C	NM_139355	-		3779407	-1	no_errors	ENST00000395045	ensembl	human	known	74_37	missense	SNP	0.769	A	A	3779407	C	A	3779407	3	1	22	1	0	0	0	0	1	0	0	0	9334	536	19	3	569	3	MATK	19	3779407	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		3779407	55349576	75	1564											
CYP4F8	11283	genome.wustl.edu	37	chr19	15730502	15730502	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccaccgtcgcttgtgaCgcctgccttccatttcaaca	7	16	1	1	rs61746468	byFrequency	TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:15730502C>T	ENST00000441682.2	+	0	516							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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCGCTTGTGACGCCTGCCTTC	0.512													C|||	505	0.100839	0.0484	0.1254	5008	,	,		20410	0.0397		0.2137	False		,,,				2504	0.1012																0								ENSG00000186526						66	67	67					19																	15730502		2203	4300	6503	CYP4F8			0			-	HGNC	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.15730502C>T		Somatic	1	176	0.56		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	123	9.56		RNA	SNP							-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	13.01	2.108844	0.37242	.	.	ENSG00000186526	ENST00000441682;ENST00000443973	.	.	.	2.97	2.97	0.34412	.	0.000000	0.85682	U	0.000000	T	0.73321	0.3572	.	.	.	.	.	.	D	0.89917	1.0	D	0.79784	0.993	T	0.82092	-0.0628	7	0.72032	D	0.01	.	11.7336	0.51752	0.0:1.0:0.0:0.0	rs61746468	152	P98187	CP4F8_HUMAN	M	151;1	.	ENSP00000409702:T151M	T	+	2	0	CYP4F8	15591502	0.996000	0.38824	0.994000	0.49952	0.015000	0.08874	3.539000	0.53604	1.680000	0.50976	0.305000	0.20034	ACG	-	-		0.512	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	processed_transcript		C	NM_007253	rs61746468		15730502	1	no_errors	ENST00000441682	ensembl	human	known	74_37	rna	SNP	1.000	T	T	15730502	C	T	15730502	1	4	22	0	1	0	0	0	0	0	0	0	4193	536	19	1		1	CYP4F8	19	15730502	RNA	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	11951095	15730502	43398481	76	1565											
NPHS1	4868	genome.wustl.edu	37	chr19	36330257	36330257	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaccagtcagcgtgaaGgtggtggcctggggtggtac	18	7	1	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:36330257G>T	ENST00000378910.5	-	22	2990	c.2991C>A	c.(2989-2991)acC>acA	p.T997T	NPHS1_ENST00000353632.6_Silent_p.T997T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	997	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.T997T(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGCGTGAAGGTGGTGGCCT	0.582																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000161270						97	83	88					19																	36330257		2203	4300	6503	NPHS1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2991C>A	19.37:g.36330257G>T		Somatic	0	68	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	A6NDH2|C3RX61	Silent	SNP							pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T997	ENST00000378910.5	37	c.2991	CCDS32996.1	19																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	G		-		36330257	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	silent	SNP	0.963	T	T	36330257	G	T	36330257	2	4	22	1	0	0	0	0	0	0	0	1	10584	987	35	3		3	NPHS1	19	36330257	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	20599755	36330257	22798726	77	1566											
IRGC	56269	genome.wustl.edu	37	chr19	44223832	44223832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggacgctggtggctggCggcatcagctttggcgctgt	17	9	1	0	rs572996178		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:44223832C>T	ENST00000244314.5	+	2	1321	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	374						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGGTGGCTGGCGGCATCAGCT	0.652																																					Colon(189;350 2037 11447 13433 38914)												0								ENSG00000124449						33	29	30					19																	44223832		2203	4299	6502	IRGC	SO:0001819	synonymous_variant	0			-	HGNC	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1122C>T	19.37:g.44223832C>T		Somatic	0	133	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	87	29.03	Q05BR8	Silent	SNP							pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	p.G374	ENST00000244314.5	37	c.1122	CCDS12629.1	19																																																																																			-	NULL		0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	protein_coding	OTTHUMT00000336191.1	C	NM_019612	-		44223832	1	no_errors	ENST00000244314	ensembl	human	known	74_37	silent	SNP	0.000	T	T	44223832	C	T	44223832	2	4	22	1	0	0	0	0	0	0	0	1	7840	755	27	1		1	IRGC	19	44223832	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	7893575	44223832	14905151	78	1567											
SULT2A1	6822	genome.wustl.edu	37	chr19	48386833	48386833	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaccattatgcactgaCcttggccttggaactgaaga	8	10	1	3			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:48386833C>A	ENST00000222002.3	-	2	485		c.e2+1			NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TATGCACTGACCTTGGCCTTG	0.453																																																	0								ENSG00000105398						138	102	114					19																	48386833		2203	4300	6503	SULT2A1	SO:0001630	splice_region_variant	0			-	HGNC	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.345+1G>T	19.37:g.48386833C>A		Somatic	0	83	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.68		Splice_Site	SNP							-	e2+1	ENST00000222002.3	37	c.345+1	CCDS12707.1	19	.	.	.	.	.	.	.	.	.	.	c	13.59	2.284074	0.40394	.	.	ENSG00000105398	ENST00000222002	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0525	0.58962	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT2A1	53078645	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.119000	0.50422	2.027000	0.59764	0.643000	0.83706	.	-	-		0.453	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT2A1	protein_coding	OTTHUMT00000369044.1	C	NM_003167	-	Intron	48386833	-1	no_errors	ENST00000222002	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	48386833	C	A	48386833	5	1	22	1	0	0	0	0	0	0	1	0	15388	521	18	3	531	3	SULT2A1	19	48386833	Splice_Site	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	4163001	48386833	10742150	79	1568											
POLD1	5424	genome.wustl.edu	37	chr19	50909545	50909545	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacaccaaggttgtcaGcatggtgggccgcgtgcaga	17	10	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:50909545G>C	ENST00000440232.2	+	11	1402	c.1349G>C	c.(1348-1350)aGc>aCc	p.S450T	POLD1_ENST00000599857.1_Missense_Mutation_p.S450T|POLD1_ENST00000595904.1_Missense_Mutation_p.S450T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	450					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AAGGTTGTCAGCATGGTGGGC	0.647								DNA polymerases (catalytic subunits)																																									0								ENSG00000062822						57	58	57					19																	50909545		2203	4300	6503	POLD1	SO:0001583	missense	0			-	HGNC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1349G>C	19.37:g.50909545G>C	ENSP00000406046:p.Ser450Thr	Somatic	0	123	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	71	16.47	Q8NER3|Q96H98	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.S450T	ENST00000440232.2	37	c.1349	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207979	0.39003	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.09350	2.99	4.44	4.44	0.53790	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.051041	0.85682	D	0.000000	T	0.03608	0.0103	N	0.01464	-0.85	0.38402	D	0.945682	B;B	0.12013	0.005;0.002	B;B	0.17098	0.017;0.01	T	0.40683	-0.9550	10	0.31617	T	0.26	-50.4231	6.8783	0.24158	0.192:0.0:0.808:0.0	.	450;450	E7EVW0;P28340	.;DPOD1_HUMAN	T	450;451	ENSP00000406046:S450T	ENSP00000366129:S451T	S	+	2	0	POLD1	55601357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.211000	0.58507	2.482000	0.83794	0.655000	0.94253	AGC	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.647	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	protein_coding	OTTHUMT00000464732.1	G		-		50909545	1	no_errors	ENST00000440232	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50909545	G	C	50909545	3	2	22	1	0	0	0	0	1	0	0	0	12192	971	34	4	1387	4	POLD1	19	50909545	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	2522712	50909545	8219438	80	1569											
NLRP11	204801	genome.wustl.edu	37	chr19	56329269	56329269	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcgtgaccccactcaCggtttcgtctgccaatgatc	7	16	3	2	rs372781070		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr19:56329269C>T	ENST00000589093.1	-	2	365		c.e2+1		NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000443188.1_Splice_Site|NLRP11_ENST00000589824.2_Splice_Site			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								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)	p.?(1)		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)		ACCCCACTCACGGTTTCGTCT	0.423																																																	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000179873	C		0,4406		0,0,2203	90	84	86			1.5	0.3	19		86	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	NLRP11	NM_145007.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			56329269	1,13005	2203	4300	6503	NLRP11	SO:0001630	splice_region_variant	0			-	HGNC	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.271+1G>A	19.37:g.56329269C>T		Somatic	0	34	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Splice_Site	SNP							-	e1+1	ENST00000589093.1	37	c.271+1	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838774	0.16891	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	2.5	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.37501	D	0.916779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2883	0.15714	0.0:0.8339:0.0:0.1661	.	.	.	.	.	-1	.	.	.	-	.	.	NLRP11	61021081	0.341000	0.24801	0.315000	0.25238	0.067000	0.16453	0.513000	0.22770	0.625000	0.30304	0.650000	0.86243	.	-	-		0.423	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	protein_coding	OTTHUMT00000453657.1	C	NM_145007	-	Intron	56329269	-1	no_errors	ENST00000443188	ensembl	human	known	74_37	splice_site	SNP	0.359	T	T	56329269	C	T	56329269	5	4	22	1	0	0	0	0	0	0	1	0	10475	550	19	1	2865	1	NLRP11	19	56329269	Splice_Site	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	5419724	56329269	2799714	81	1570											
HCK	3055	genome.wustl.edu	37	chr20	30659487	30659487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgcatgaagtccaagTtcctccaggtcggaggcaat	14	9	0	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr20:30659487T>C	ENST00000520553.1	+	2	268	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L	HCK_ENST00000534862.1_Missense_Mutation_p.F9L|HCK_ENST00000375862.2_Missense_Mutation_p.F29L|HCK_ENST00000518730.1_Missense_Mutation_p.F8L|HCK_ENST00000538448.1_Missense_Mutation_p.F8L|HCK_ENST00000375852.2_Missense_Mutation_p.F29L	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	29					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GAAGTCCAAGTTCCTCCAGGT	0.562																																																	0								ENSG00000101336						126	109	115					20																	30659487		2203	4300	6503	HCK	SO:0001583	missense	0			-	HGNC	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.22T>C	20.37:g.30659487T>C	ENSP00000429848:p.Phe8Leu	Somatic	0	118	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	65	27.78	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.F29L	ENST00000520553.1	37	c.85	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	T	5.878	0.346183	0.11126	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.72615	-0.65;-0.66;-0.66;-0.66;-0.65;-0.67	4.28	4.28	0.50868	.	0.738828	0.12255	N	0.485241	T	0.56645	0.1999	L	0.27053	0.805	0.31716	N	0.638975	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.56944	-0.7895	10	0.31617	T	0.26	.	9.9759	0.41783	0.0:0.0:0.0:1.0	.	8;29	P08631-3;P08631	.;HCK_HUMAN	L	9;8;29;8;8;29	ENSP00000444986:F9L;ENSP00000441169:F8L;ENSP00000365022:F29L;ENSP00000429848:F8L;ENSP00000427757:F8L;ENSP00000365012:F29L	ENSP00000365012:F29L	F	+	1	0	HCK	30123148	0.968000	0.33430	0.996000	0.52242	0.346000	0.29079	1.279000	0.33191	1.936000	0.56123	0.254000	0.18369	TTC	-	NULL		0.562	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	protein_coding	OTTHUMT00000375751.1	T		-		30659487	1	no_errors	ENST00000375852	ensembl	human	known	74_37	missense	SNP	0.992	C	C	30659487	T	C	30659487	3	2	22	1	0	0	0	0	1	0	0	0	6996	1725	60	5	97	5	HCK	20	30659487	Missense_Mutation	SNP	T	TCGA-DX-A1KY-01A-11D-A24N-09		30659487	32366033	82	1571											
C20orf186	149954	genome.wustl.edu	37	chr20	31671211	31671211	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatgacttccatgtccgaGgaccccccccagtatatacc	6	16	0	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr20:31671211G>T	ENST00000375483.3	+	3	208	c.208G>T	c.(208-210)Gga>Tga	p.G70*		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	70						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCATGTCCGAGGACCCCCCCC	0.488																																																	0								ENSG00000186191						88	86	87					20																	31671211		2203	4300	6503	BPIFB4	SO:0001587	stop_gained	0			-	HGNC	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.208G>T	20.37:g.31671211G>T	ENSP00000364632:p.Gly70*	Somatic	0	46	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	Q5TDX6	Nonsense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.G70*	ENST00000375483.3	37	c.208	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	g	9.989	1.230201	0.22542	.	.	ENSG00000186191	ENST00000375483	.	.	.	2.89	2.89	0.33648	.	0.236202	0.21187	U	0.078701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.0016	9.3529	0.38149	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000364632:G70X	G	+	1	0	BPIFB4	31134872	0.985000	0.35326	0.350000	0.25708	0.012000	0.07955	2.537000	0.45702	1.607000	0.50170	0.306000	0.20318	GGA	-	NULL		0.488	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	protein_coding	OTTHUMT00000078655.5	G	NM_182519	-		31671211	1	no_errors	ENST00000375483	ensembl	human	known	74_37	nonsense	SNP	0.470	T	T	31671211	G	T	31671211	4	4	22	1	0	0	0	0	0	1	0	0	2100	1001	35	3	218	3	C20orf186	20	31671211	Nonsense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	1011724	31671211	31354309	83	1572											
VSTM2L	128434	genome.wustl.edu	37	chr20	36561976	36561976	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggaagacgcagggaaggaGgcaaccaaaataagtgtgag	15	6	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr20:36561976G>C	ENST00000373461.4	+	3	574	c.327G>C	c.(325-327)gaG>gaC	p.E109D	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	109	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CAGGGAAGGAGGCAACCAAAA	0.512																																																	0								ENSG00000132821						100	91	94					20																	36561976		2203	4300	6503	VSTM2L	SO:0001583	missense	0			-	HGNC	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"Immunoglobulin superfamily / V-set domain containing"	16096	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 102"	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.327G>C	20.37:g.36561976G>C	ENSP00000362560:p.Glu109Asp	Somatic	0	23	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E109D	ENST00000373461.4	37	c.327	CCDS13299.1	20	.	.	.	.	.	.	.	.	.	.	G	2.055	-0.416672	0.04766	.	.	ENSG00000132821	ENST00000373461	T	0.68025	-0.3	4.89	-2.6	0.06190	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.336851	0.34777	N	0.003699	T	0.21509	0.0518	N	0.00301	-1.68	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46442	-0.9191	10	0.02654	T	1	-0.787	10.2449	0.43334	0.0:0.323:0.527:0.15	.	109	Q96N03	VTM2L_HUMAN	D	109	ENSP00000362560:E109D	ENSP00000362560:E109D	E	+	3	2	VSTM2L	35995390	0.557000	0.26546	0.985000	0.45067	0.975000	0.68041	-0.431000	0.06965	-0.172000	0.10779	-0.494000	0.04653	GAG	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.512	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM2L	protein_coding	OTTHUMT00000079133.1	G		-		36561976	1	no_errors	ENST00000373461	ensembl	human	known	74_37	missense	SNP	0.962	C	C	36561976	G	C	36561976	3	2	22	1	0	0	0	0	1	0	0	0	17237	991	35	4	337	4	VSTM2L	20	36561976	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	4890765	36561976	26463544	84	1573											
SLC32A1	140679	genome.wustl.edu	37	chr20	37356949	37356949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccaggaaggcagccgCgcctttttcccggcctgcta	10	16	1	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr20:37356949C>T	ENST00000217420.1	+	2	1508	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	415					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AAGGCAGCCGCGCCTTTTTCC	0.622																																																	0								ENSG00000101438						33	36	35					20																	37356949		2203	4300	6503	SLC32A1	SO:0001819	synonymous_variant	0			-	HGNC	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1245C>T	20.37:g.37356949C>T		Somatic	0	76	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	Q8N489	Silent	SNP							pfam_AA_transpt_TM	p.R415	ENST00000217420.1	37	c.1245	CCDS13307.1	20																																																																																			-	pfam_AA_transpt_TM		0.622	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	protein_coding	OTTHUMT00000079206.1	C	NM_080552	-		37356949	1	no_errors	ENST00000217420	ensembl	human	known	74_37	silent	SNP	0.998	T	T	37356949	C	T	37356949	2	4	22	1	0	0	0	0	0	0	0	1	14573	755	27	1		1	SLC32A1	20	37356949	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	794973	37356949	25668571	85	1574											
CTCFL	140690	genome.wustl.edu	37	chr20	56073701	56073701	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgcaggcgacaggaaAcatctctcctgggaactgtt	10	11	2	0			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr20:56073701A>T	ENST00000608263.1	-	10	2558	c.1897T>A	c.(1897-1899)Ttt>Att	p.F633I	CTCFL_ENST00000371196.2_Missense_Mutation_p.F633I|CTCFL_ENST00000423479.3_Missense_Mutation_p.F633I|CTCFL_ENST00000609232.1_Missense_Mutation_p.F633I|CTCFL_ENST00000243914.3_Missense_Mutation_p.F633I|CTCFL_ENST00000429804.3_Missense_Mutation_p.F583I	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	633					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCGACAGGAAACATCTCTCCT	0.498																																																	0								ENSG00000124092						142	125	131					20																	56073701		2203	4300	6503	CTCFL	SO:0001583	missense	0			-	HGNC		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1897T>A	20.37:g.56073701A>T	ENSP00000476783:p.Phe633Ile	Somatic	0	59	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	36	29.41	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F633I	ENST00000608263.1	37	c.1897	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317540	0.23908	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804	T;T;T;T	0.09073	3.02;3.06;3.06;3.23	4.38	0.019	0.14119	.	2.059020	0.02751	N	0.117459	T	0.04543	0.0124	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.10296	0.0;0.003;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.36065	-0.9763	10	0.29301	T	0.29	1.009	3.261	0.06849	0.1641:0.4099:0.3295:0.0965	.	583;633;633;633	E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;CTCFL_HUMAN	I	633;633;633;583	ENSP00000415579:F633I;ENSP00000243914:F633I;ENSP00000360239:F633I;ENSP00000415329:F583I	ENSP00000243914:F633I	F	-	1	0	CTCFL	55507107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.472000	0.06623	-0.251000	0.09542	-1.509000	0.00949	TTT	-	NULL		0.498	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	protein_coding	OTTHUMT00000472040.1	A	NM_080618	-		56073701	-1	no_errors	ENST00000423479	ensembl	human	known	74_37	missense	SNP	0.001	T	T	56073701	A	T	56073701	3	4	22	1	0	0	0	0	1	0	0	0	4003	43	2	5	98	5	CTCFL	20	56073701	Missense_Mutation	SNP	A	TCGA-DX-A1KY-01A-11D-A24N-09	18716752	56073701	6951819	86	1575											
MCM5	4174	genome.wustl.edu	37	chr22	35804413	35804413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagagatcaggctggGcgccccaaatgcccattgga	12	11	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr22:35804413G>A	ENST00000216122.4	+	6	763	c.609G>A	c.(607-609)ggG>ggA	p.G203G	MCM5_ENST00000382011.5_Silent_p.G160G	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	203					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)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATCAGGCTGGGCGCCCCAAAT	0.552																																																	0								ENSG00000100297						72	64	67					22																	35804413		2203	4300	6503	MCM5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.609G>A	22.37:g.35804413G>A		Somatic	0	109	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	62	32.61	O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP							pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase	p.G203	ENST00000216122.4	37	c.609	CCDS13915.1	22																																																																																			-	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase		0.552	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	protein_coding	OTTHUMT00000320661.3	G		-		35804413	1	no_errors	ENST00000216122	ensembl	human	known	74_37	silent	SNP	0.971	A	A	35804413	G	A	35804413	2	1	22	1	0	0	0	0	0	0	0	1	9392	1190	42	2		2	MCM5	22	35804413	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09		35804413	15500153	87	1576											
BRD1	23774	genome.wustl.edu	37	chr22	50181108	50181108	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catgtgctccgcgaccttttCcttggctgcagaagagtctc	10	13	1	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chr22:50181108C>G	ENST00000216267.8	-	7	2880	c.2394G>C	c.(2392-2394)agG>agC	p.R798S	BRD1_ENST00000342989.5_Missense_Mutation_p.R524S|BRD1_ENST00000404034.1_Missense_Mutation_p.R798S|BRD1_ENST00000542442.1_Missense_Mutation_p.R486S|BRD1_ENST00000404760.1_Missense_Mutation_p.R929S|BRD1_ENST00000457780.2_Missense_Mutation_p.G902A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	798					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGACCTTTTCCTTGGCTGCA	0.592																																																	0								ENSG00000100425						57	58	58					22																	50181108		2203	4300	6503	BRD1	SO:0001583	missense	0			-	HGNC	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2394G>C	22.37:g.50181108C>G	ENSP00000216267:p.Arg798Ser	Somatic	0	51	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	A6ZJA4	Missense_Mutation	SNP							pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.R798S	ENST00000216267.8	37	c.2394	CCDS14080.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.54|13.54	2.267851|2.267851	0.40095|0.40095	.|.	.|.	ENSG00000100425|ENSG00000100425	ENST00000457780|ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T|T;T;T;T;T	0.14144|0.38401	2.53|2.15;2.15;2.4;1.14;1.67	5.39|5.39	3.25|3.25	0.37280|0.37280	.|.	.|0.049476	.|0.85682	.|D	.|0.000000	T|T	0.36826|0.36826	0.0981|0.0981	L|L	0.60455|0.60455	1.87|1.87	0.25517|0.25517	N|N	0.987407|0.987407	.|P;D;P;P	.|0.53151	.|0.919;0.958;0.919;0.952	.|P;P;B;P	.|0.51833	.|0.456;0.681;0.324;0.657	T|T	0.18935|0.18935	-1.0321|-1.0321	7|10	0.21014|0.09590	T|T	0.42|0.72	.|.	6.5644|6.5644	0.22503|0.22503	0.0:0.5636:0.0:0.4364|0.0:0.5636:0.0:0.4364	.|.	.|929;524;798;929	.|Q86X06;B7Z926;O95696;O95696-2	.|.;.;BRD1_HUMAN;.	A|S	902|798;798;929;486;524;389	ENSP00000410042:G902A|ENSP00000216267:R798S;ENSP00000384076:R798S;ENSP00000385858:R929S;ENSP00000437514:R486S;ENSP00000345886:R524S	ENSP00000410042:G902A|ENSP00000216267:R798S	G|R	-|-	2|3	0|2	BRD1|BRD1	48567112|48567112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.302000|1.302000	0.33459|0.33459	0.529000|0.529000	0.28599|0.28599	0.655000|0.655000	0.94253|0.94253	GGA|AGG	-	NULL		0.592	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	protein_coding	OTTHUMT00000317402.1	C	NM_014577	-		50181108	-1	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	SNP	1.000	G	G	50181108	C	G	50181108	3	3	22	1	0	0	0	0	1	0	0	0	1503	854	30	4	806	4	BRD1	22	50181108	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	14376695	50181108	1123458	88	1577											
ATXN3L	92552	genome.wustl.edu	37	chrX	13337747	13337747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttataggatcaatgcCgagcttctgatattcaggat	8	7	4	1	rs199861470		TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chrX:13337747C>T	ENST00000380622.2	-	1	771	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	103	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGATCAATGCCGAGCTTCTGA	0.333																																																	0								ENSG00000123594	C	SER/GLY	0,2627		0,0,1059,509	75	61	65		307	-1.9	0	X		65	1,5497		0,1,1915,1666	yes	missense	ATXN3L	NM_001135995.1	56	0,1,2974,2175	TT,TC,CC,C		0.0182,0.0,0.0123	benign	103/356	13337747	1,8124	1568	3582	5150	ATXN3L	SO:0001583	missense	0			-	HGNC		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.307G>A	X.37:g.13337747C>T	ENSP00000369996:p.Gly103Ser	Somatic	0	22	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B2RNY8	Missense_Mutation	SNP							pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif	p.G103S	ENST00000380622.2	37	c.307	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	C	5.287	0.238346	0.10023	0.0	1.82E-4	ENSG00000123594	ENST00000380622	T	0.38401	1.14	0.943	-1.89	0.07689	.	0.302450	0.44097	D	0.000492	T	0.16557	0.0398	N	0.12182	0.205	0.09310	N	1	B	0.17667	0.023	B	0.20184	0.028	T	0.07404	-1.0774	10	0.40728	T	0.16	.	6.3813	0.21536	0.0:0.489:0.0:0.511	.	103	Q9H3M9	ATX3L_HUMAN	S	103	ENSP00000369996:G103S	ENSP00000369996:G103S	G	-	1	0	ATXN3L	13247668	0.995000	0.38212	0.004000	0.12327	0.016000	0.09150	0.609000	0.24238	-1.396000	0.02071	-1.339000	0.01253	GGC	-	pfam_Josephin,pfscan_Josephin		0.333	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	protein_coding	OTTHUMT00000055785.2	C	NM_001135995	rs199861470		13337747	-1	no_errors	ENST00000380622	ensembl	human	known	74_37	missense	SNP	0.029	T	T	13337747	C	T	13337747	3	4	22	1	0	0	0	0	1	0	0	0	1214	652	23	1	764	1	ATXN3L	23	13337747	Missense_Mutation	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09		13337747	141932813	89	1578											
FAM47A	158724	genome.wustl.edu	37	chrX	34149685	34149685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccagtctctggaggctcCgggcggagatgggacactcc	14	13	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chrX:34149685C>T	ENST00000346193.3	-	1	762	c.711G>A	c.(709-711)ccG>ccA	p.P237P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	237	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		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						CTGGAGGCTCCGGGCGGAGAT	0.627													C|||	3	0.000794702	0	0.0029	3775	,	,		10659	0		0.001	False		,,,				2504	0																1	Deletion - In frame(1)	ovary(1)						ENSG00000185448						31	32	32					X																	34149685		2199	4295	6494	FAM47A	SO:0001819	synonymous_variant	0			-	HGNC	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.711G>A	X.37:g.34149685C>T		Somatic	0	97	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	93	83	52.84	A8K8I9|Q8TAA0	Silent	SNP							NULL	p.P237	ENST00000346193.3	37	c.711	CCDS43926.1	X																																																																																			-	NULL		0.627	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	C	NM_203408	-		34149685	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	SNP	0.109	T	T	34149685	C	T	34149685	2	4	22	1	0	0	0	0	0	0	0	1	5571	639	23	1		1	FAM47A	23	34149685	Silent	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	20811938	34149685	121120875	90	1579											
CXorf27	25763	genome.wustl.edu	37	chrX	37850229	37850229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgagacgtccaaagccagaGttcctccacaataaataccc	6	14	0	2			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chrX:37850229G>T	ENST00000341016.3	+	1	160	c.137G>T	c.(136-138)aGt>aTt	p.S46I	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		46										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CAAAGCCAGAGTTCCTCCACA	0.512																																																	0								ENSG00000187516						100	95	96					X																	37850229		2061	4186	6247	CXorf27	SO:0001583	missense	0			-	HGNC																												ENST00000341016.3:c.137G>T	X.37:g.37850229G>T	ENSP00000339511:p.Ser46Ile	Somatic	0	19	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.24	A1A4D3	Missense_Mutation	SNP							superfamily_Histone-fold	p.S46I	ENST00000341016.3	37	c.137	CCDS43929.1	X	.	.	.	.	.	.	.	.	.	.	G	8.497	0.863315	0.17250	.	.	ENSG00000187516	ENST00000341016	T	0.55588	0.51	3.7	-1.48	0.08745	Histone-fold (2);	.	.	.	.	T	0.45657	0.1353	L	0.46157	1.445	0.09310	N	1	P	0.48016	0.904	P	0.46253	0.509	T	0.39482	-0.9612	9	0.72032	D	0.01	.	5.5686	0.17184	0.2167:0.4892:0.294:0.0	.	46	O75409	HYPM_HUMAN	I	46	ENSP00000339511:S46I	ENSP00000339511:S46I	S	+	2	0	CXorf27	37735173	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.125000	0.10579	-0.488000	0.06726	-1.361000	0.01213	AGT	-	superfamily_Histone-fold		0.512	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf27	protein_coding	OTTHUMT00000080888.1	G		-		37850229	1	no_errors	ENST00000341016	ensembl	human	known	74_37	missense	SNP	0.000	T	T	37850229	G	T	37850229	3	4	22	1	0	0	0	0	1	0	0	0	4107	1029	36	3	139	3	CXorf27	23	37850229	Missense_Mutation	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	3700544	37850229	117420331	91	1580											
SATL1	340562	genome.wustl.edu	37	chrX	84349150	84349150	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccttggtaagcttgtgtGacataaaagtcctctaggta	9	7	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chrX:84349150G>A	ENST00000395409.3	-	4	1859	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	SATL1_ENST00000509231.1_Silent_p.V620V|SATL1_ENST00000332921.5_Silent_p.V433V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	433	Acetyl-CoA binding. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AAGCTTGTGTGACATAAAAGT	0.338																																																	0								ENSG00000184788						104	88	94					X																	84349150		2203	4300	6503	SATL1	SO:0001819	synonymous_variant	0			-	HGNC	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1299C>T	X.37:g.84349150G>A		Somatic	0	57	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	165	9.78	A0AVK7|E9PB72|Q5H8V9	Silent	SNP							superfamily_Acyl_CoA_acyltransferase	p.V620	ENST00000395409.3	37	c.1860		X																																																																																			-	superfamily_Acyl_CoA_acyltransferase		0.338	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	protein_coding		G	XM_291339	-		84349150	-1	no_errors	ENST00000509231	ensembl	human	known	74_37	silent	SNP	0.990	A	A	84349150	G	A	84349150	2	1	22	1	0	0	0	0	0	0	0	1	13863	1277	45	2		2	SATL1	23	84349150	Silent	SNP	G	TCGA-DX-A1KY-01A-11D-A24N-09	46498921	84349150	70921410	92	1581											
CSTF2	1478	genome.wustl.edu	37	chrX	100093229	100093229	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttcctctgcacaggCtgctttgattatgcaggttc	8	9	1	1			TCGA-DX-A1KY-01A-11D-A24N-09	TCGA-DX-A1KY-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65d03611-7930-43a7-a751-a6a0e2854593	89c21466-106d-42dd-bdff-dce05eb7cb32	g.chrX:100093229C>A	ENST00000372972.2	+	13	1629	c.1613C>A	c.(1612-1614)gCt>gAt	p.A538D	CSTF2_ENST00000415585.2_Splice_Site_p.A558D	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	538	Interaction with RPO2TC1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TCTGCACAGGCTGCTTTGATT	0.403																																																	0								ENSG00000101811						93	90	91					X																	100093229		2203	4300	6503	CSTF2	SO:0001630	splice_region_variant	0			-	HGNC	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1612-1C>A	X.37:g.100093229C>A		Somatic	0	25	0		0.763893214878578				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A558D	ENST00000372972.2	37	c.1673	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894072	0.91889	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.19806	2.2;2.12	5.83	5.83	0.93111	.	0.046453	0.85682	D	0.000000	T	0.48314	0.1493	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.45629	-0.9248	10	0.87932	D	0	-14.3608	19.1309	0.93406	0.0:1.0:0.0:0.0	.	558;521;538	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	D	558;538;514	ENSP00000387996:A558D;ENSP00000362063:A538D	ENSP00000362063:A538D	A	+	2	0	CSTF2	99979885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.298000	0.78815	2.468000	0.83385	0.600000	0.82982	GCT	-	NULL		0.403	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	protein_coding	OTTHUMT00000058926.1	C	NM_001325	-	Missense_Mutation	100093229	1	no_errors	ENST00000415585	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100093229	C	A	100093229	5	1	22	1	0	0	0	0	0	0	1	0	3986	811	28	3	1663	3	CSTF2	23	100093229	Splice_Site	SNP	C	TCGA-DX-A1KY-01A-11D-A24N-09	15744079	100093229	55177331	93	1582											
ZNF643	65243	genome.wustl.edu	37	chr1	40929111	40929111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgggaaagcctttagGcatgattcatcctttgctaa	9	8	1	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr1:40929111G>A	ENST00000411995.2	+	6	1830	c.1455G>A	c.(1453-1455)agG>agA	p.R485R	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Silent_p.R383R|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	485					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)										AAGCCTTTAGGCATGATTCAT	0.398																																																	0								ENSG00000187801						83	81	81					1																	40929111		2203	4300	6503	ZFP69B	SO:0001819	synonymous_variant	0			-	HGNC	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1455G>A	1.37:g.40929111G>A		Somatic	0	34	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q5QPL4	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R485	ENST00000411995.2	37	c.1455	CCDS452.2	1																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	protein_coding	OTTHUMT00000019078.2	G	NM_023070	-		40929111	1	no_errors	ENST00000411995	ensembl	human	known	74_37	silent	SNP	0.044	A	A	40929111	G	A	40929111	2	1	23	1	0	0	0	0	0	0	0	1	18066	1194	42	2		2	ZNF643	1	40929111	Silent	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09		40929111	208321510	1	1583											
FAM5B	57795	genome.wustl.edu	37	chr1	177249691	177249691	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccccatcccatgtgcctTgggcgaagggcccgcgtgtg	16	14	0	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr1:177249691T>A	ENST00000361539.4	+	8	1691	c.1379T>A	c.(1378-1380)tTg>tAg	p.L460*	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	460					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)	extracellular region (GO:0005576)											CCATGTGCCTTGGGCGAAGGG	0.637																																																	0								ENSG00000198797						39	37	38					1																	177249691		2203	4300	6503	BRINP2	SO:0001587	stop_gained	0			-	HGNC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1379T>A	1.37:g.177249691T>A	ENSP00000354481:p.Leu460*	Somatic	0	43	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Nonsense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.L460*	ENST00000361539.4	37	c.1379	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	T	37	6.442492	0.97572	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	.	.	.	5.21	5.21	0.72293	.	0.260506	0.32736	N	0.005705	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-10.7368	14.7454	0.69488	0.0:0.0:0.0:1.0	.	.	.	.	X	213;460	.	ENSP00000354481:L460X	L	+	2	0	FAM5B	175516314	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	7.930000	0.87610	1.965000	0.57142	0.260000	0.18958	TTG	-	NULL		0.637	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	protein_coding	OTTHUMT00000084599.1	T	NM_021165	-		177249691	1	no_errors	ENST00000361539	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	177249691	T	A	177249691	4	1	23	1	0	0	0	0	0	1	0	0	5595	1821	63	5	1405	5	FAM5B	1	177249691	Nonsense_Mutation	SNP	T	TCGA-DX-A1KZ-01A-11D-A24N-09	136320580	177249691	72000930	2	1584											
USP34	9736	genome.wustl.edu	37	chr2	61633120	61633120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactctcatcttgccacgtgGaatctatgttaatggtagta	8	8	3	0	rs566351854		TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr2:61633120G>A	ENST00000398571.2	-	3	351	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	92					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)			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)			TTGCCACGTGGAATCTATGTT	0.358													G|||	1	0.000199681	8e-04	0	5008	,	,		16401	0		0	False		,,,				2504	0																0								ENSG00000115464						184	165	171					2																	61633120		1882	4107	5989	USP34	SO:0001583	missense	0			-	HGNC	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.275C>T	2.37:g.61633120G>A	ENSP00000381577:p.Ser92Phe	Somatic	0	56	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.S92F	ENST00000398571.2	37	c.275	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104055	0.56291	.	.	ENSG00000115464	ENST00000398571	T	0.15139	2.45	6.17	6.17	0.99709	.	.	.	.	.	T	0.16854	0.0405	L	0.36672	1.1	0.39900	D	0.973885	P	0.40476	0.718	B	0.34242	0.178	T	0.01401	-1.1364	9	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	92	Q70CQ2	UBP34_HUMAN	F	92	ENSP00000381577:S92F	ENSP00000381577:S92F	S	-	2	0	USP34	61486624	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.335000	0.65929	2.941000	0.99782	0.655000	0.94253	TCC	-	NULL		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	protein_coding	OTTHUMT00000325650.4	G		-		61633120	-1	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61633120	G	A	61633120	3	1	23	1	0	0	0	0	1	0	0	0	17072	1174	41	2	10677	2	USP34	2	61633120	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09		61633120	181566253	3	1585											
ZAP70	7535	genome.wustl.edu	37	chr2	98340753	98340753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaccggcagagctctgcgAgttctactcgcgcgaccccg	13	15	2	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr2:98340753A>C	ENST00000264972.5	+	3	469	c.254A>C	c.(253-255)gAg>gCg	p.E85A	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	85	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GAGCTCTGCGAGTTCTACTCG	0.687																																																	0								ENSG00000115085						14	14	14					2																	98340753		2198	4296	6494	ZAP70	SO:0001583	missense	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.254A>C	2.37:g.98340753A>C	ENSP00000264972:p.Glu85Ala	Somatic	0	34	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E85A	ENST00000264972.5	37	c.254	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680318	0.29872	.	.	ENSG00000115085	ENST00000264972	T	0.27720	1.65	4.9	4.9	0.64082	SH2 motif (4);	0.133234	0.33217	N	0.005148	T	0.31949	0.0813	L	0.53671	1.685	0.80722	D	1	B;B	0.18166	0.026;0.006	B;B	0.24848	0.056;0.03	T	0.12426	-1.0548	10	0.54805	T	0.06	.	12.7795	0.57469	1.0:0.0:0.0:0.0	.	85;85	B4E0E2;P43403	.;ZAP70_HUMAN	A	85	ENSP00000264972:E85A	ENSP00000264972:E85A	E	+	2	0	ZAP70	97707185	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	8.895000	0.92512	1.982000	0.57802	0.383000	0.25322	GAG	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	A		-		98340753	1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	SNP	1.000	C	C	98340753	A	C	98340753	3	2	23	1	0	0	0	0	1	0	0	0	17521	304	11	5	256	5	ZAP70	2	98340753	Missense_Mutation	SNP	A	TCGA-DX-A1KZ-01A-11D-A24N-09	36707633	98340753	144858620	4	1586											
SLC9A2	6549	genome.wustl.edu	37	chr2	103274131	103274131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttgatgagaagtctcCccctgcaatgaagactgatg	12	8	1	5			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr2:103274131C>T	ENST00000233969.2	+	2	540	c.398C>T	c.(397-399)cCc>cTc	p.P133L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	133					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAAGTCTCCCCCTGCAATG	0.463																																																	0								ENSG00000115616						216	198	204					2																	103274131		2203	4300	6503	SLC9A2	SO:0001583	missense	0			-	HGNC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.398C>T	2.37:g.103274131C>T	ENSP00000233969:p.Pro133Leu	Somatic	0	152	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	100	21.26	B2RMS2	Missense_Mutation	SNP							pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P133L	ENST00000233969.2	37	c.398	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544609	0.86022	.	.	ENSG00000115616	ENST00000233969	T	0.57107	0.42	5.73	5.73	0.89815	Cation/H+ exchanger (1);	0.049157	0.85682	N	0.000000	T	0.60130	0.2245	L	0.43646	1.37	0.80722	D	1	D	0.54964	0.969	P	0.59487	0.858	T	0.54622	-0.8266	10	0.35671	T	0.21	.	13.4768	0.61314	0.0:0.9285:0.0:0.0715	.	133	Q9UBY0	SL9A2_HUMAN	L	133	ENSP00000233969:P133L	ENSP00000233969:P133L	P	+	2	0	SLC9A2	102640563	1.000000	0.71417	0.948000	0.38648	0.909000	0.53808	7.770000	0.85390	2.854000	0.98071	0.655000	0.94253	CCC	-	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger		0.463	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	protein_coding	OTTHUMT00000253292.2	C		-		103274131	1	no_errors	ENST00000233969	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103274131	C	T	103274131	3	4	23	1	0	0	0	0	1	0	0	0	14720	623	22	2	404	2	SLC9A2	2	103274131	Missense_Mutation	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09	4933378	103274131	139925242	5	1587											
RGPD4	285190	genome.wustl.edu	37	chr2	108487407	108487407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaaatcaacttcaggagaaGgatttcagtttggcaaaaaa	8	6	3	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr2:108487407G>C	ENST00000408999.3	+	20	3024	c.2947G>C	c.(2947-2949)Gga>Cga	p.G983R	RGPD4_ENST00000354986.4_Missense_Mutation_p.G983R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	983					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTCAGGAGAAGGATTTCAGTT	0.393																																																	0								ENSG00000196862						1	1	1					2																	108487407		58	317	375	RGPD4	SO:0001583	missense	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2947G>C	2.37:g.108487407G>C	ENSP00000386810:p.Gly983Arg	Somatic	0	78	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	39.06	B9A029	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G983R	ENST00000408999.3	37	c.2947	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	10.40	1.339296	0.24339	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42900	0.96;0.96	2.33	2.33	0.28932	.	.	.	.	.	T	0.51958	0.1705	M	0.72118	2.19	0.28260	N	0.924877	D	0.61080	0.989	P	0.54590	0.756	T	0.45991	-0.9223	9	0.23302	T	0.38	-30.1516	11.5771	0.50869	0.0:0.0:1.0:0.0	.	983	Q7Z3J3	RGPD4_HUMAN	R	983;983;741	ENSP00000347081:G983R;ENSP00000386810:G983R	ENSP00000347081:G983R	G	+	1	0	RGPD4	107853839	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	5.042000	0.64202	1.303000	0.44873	0.162000	0.16502	GGA	-	NULL		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581	-		108487407	1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	SNP	1.000	C	C	108487407	G	C	108487407	3	2	23	1	0	0	0	0	1	0	0	0	13296	1001	35	4	3025	4	RGPD4	2	108487407	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	5213276	108487407	134711966	6	1588											
CCDC93	54520	genome.wustl.edu	37	chr2	118753041	118753041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaggtccacaactgtcTtgatggccttttcttttctc	8	11	3	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr2:118753041T>C	ENST00000376300.2	-	6	637	c.500A>G	c.(499-501)aAg>aGg	p.K167R	AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000590516.1_RNA|RP11-98C1.1_ENST00000588733.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.K167R|CCDC93_ENST00000460781.1_5'UTR|AC009303.1_ENST00000413179.1_RNA|AC009303.1_ENST00000585381.3_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	167										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CACAACTGTCTTGATGGCCTT	0.438																																																	0								ENSG00000125633						157	144	149					2																	118753041		2203	4300	6503	CCDC93	SO:0001583	missense	0			-	HGNC	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.500A>G	2.37:g.118753041T>C	ENSP00000365477:p.Lys167Arg	Somatic	0	52	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	74	13.95	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP							pfam_DUF2037	p.K167R	ENST00000376300.2	37	c.500	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818143	0.32145	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.43688	0.94;0.94	5.34	-1.61	0.08399	.	0.302038	0.41605	N	0.000848	T	0.21062	0.0507	N	0.16743	0.435	0.27724	N	0.945036	B	0.02656	0.0	B	0.11329	0.006	T	0.19128	-1.0315	10	0.20046	T	0.44	-5.9139	9.2425	0.37504	0.0:0.4257:0.0:0.5743	.	167	Q567U6	CCD93_HUMAN	R	167	ENSP00000365477:K167R;ENSP00000324135:K167R	ENSP00000324135:K167R	K	-	2	0	CCDC93	118469511	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	0.694000	0.25512	-0.302000	0.08869	0.528000	0.53228	AAG	-	pfam_DUF2037		0.438	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	protein_coding	OTTHUMT00000129615.1	T	NM_019044	-		118753041	-1	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	SNP	0.996	C	C	118753041	T	C	118753041	3	2	23	1	0	0	0	0	1	0	0	0	2874	1609	56	5	1471	5	CCDC93	2	118753041	Missense_Mutation	SNP	T	TCGA-DX-A1KZ-01A-11D-A24N-09	10265634	118753041	124446332	7	1589											
COPS4	51138	genome.wustl.edu	37	chr4	83978556	83978556	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcactgtacgatcttagcatCagcaggtaaacacgtaataa	8	9	2	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr4:83978556C>T	ENST00000264389.2	+	6	845	c.710C>T	c.(709-711)tCa>tTa	p.S237L	COPS4_ENST00000511653.1_Missense_Mutation_p.S237L|COPS4_ENST00000509093.1_Missense_Mutation_p.S237L|COPS4_ENST00000503682.1_Missense_Mutation_p.S237L	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	237	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATCTTAGCATCAGCAGGTAAA	0.358																																																	0								ENSG00000138663						72	70	70					4																	83978556		2203	4300	6503	COPS4	SO:0001583	missense	0			-	HGNC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.710C>T	4.37:g.83978556C>T	ENSP00000264389:p.Ser237Leu	Somatic	0	38	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP							pfam_PCI_dom,smart_PCI_dom	p.S237L	ENST00000264389.2	37	c.710	CCDS3600.1	4	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033182	0.93575	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.46063	0.88;0.9;0.91;0.88;0.88	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	M	0.78637	2.42	0.80722	D	1	P;D;D;P	0.71674	0.847;0.991;0.998;0.848	B;P;P;P	0.59761	0.421;0.758;0.863;0.638	T	0.68762	-0.5323	10	0.87932	D	0	-7.3394	19.3834	0.94546	0.0:1.0:0.0:0.0	.	237;237;237;237	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	L	237;237;125;237;237	ENSP00000425976:S237L;ENSP00000264389:S237L;ENSP00000425486:S125L;ENSP00000424791:S237L;ENSP00000424655:S237L	ENSP00000264389:S237L	S	+	2	0	COPS4	84197580	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.428000	0.80296	2.593000	0.87608	0.591000	0.81541	TCA	-	NULL		0.358	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS4	protein_coding	OTTHUMT00000252643.1	C		-		83978556	1	no_errors	ENST00000264389	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83978556	C	T	83978556	3	4	23	1	0	0	0	0	1	0	0	0	3737	838	29	2	732	2	COPS4	4	83978556	Missense_Mutation	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		83978556	107175720	8	1590											
TPPP	11076	genome.wustl.edu	37	chr5	666157	666157	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaacggcctcctcgctgctCttgtctttgaatcgcttctt	8	14	3	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr5:666157C>T	ENST00000360578.5	-	3	514	c.393G>A	c.(391-393)aaG>aaA	p.K131K	CEP72_ENST00000514507.1_3'UTR|AC026740.1_ENST00000594226.1_5'Flank	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	131					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCTCGCTGCTCTTGTCTTTGA	0.637																																																	0								ENSG00000171368						102	91	95					5																	666157		2203	4300	6503	TPPP	SO:0001819	synonymous_variant	0			-	HGNC	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.393G>A	5.37:g.666157C>T		Somatic	0	73	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	83	20.95		Silent	SNP							pfam_P25-alpha	p.K131	ENST00000360578.5	37	c.393	CCDS3856.1	5																																																																																			-	pfam_P25-alpha		0.637	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP	protein_coding	OTTHUMT00000253645.3	C	NM_007030	-		666157	-1	no_errors	ENST00000360578	ensembl	human	known	74_37	silent	SNP	1.000	T	T	666157	C	T	666157	2	4	23	1	0	0	0	0	0	0	0	1	16420	912	32	2		2	TPPP	5	666157	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		666157	180249103	9	1591											
MRPS30	10884	genome.wustl.edu	37	chr5	44809252	44809252	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcacggctgcggcggaTcgagcgctggcaggcgacgg	19	12	0	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr5:44809252T>G	ENST00000507110.1	+	1	226	c.188T>G	c.(187-189)aTc>aGc	p.I63S	RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	63					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CTGCGGCGGATCGAGCGCTGG	0.632																																																	0								ENSG00000112996						13	17	16					5																	44809252		2195	4278	6473	MRPS30	SO:0001583	missense	0			-	HGNC	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.188T>G	5.37:g.44809252T>G	ENSP00000424328:p.Ile63Ser	Somatic	0	48	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP							pfam_Ribosomal_L37/S30	p.I63S	ENST00000507110.1	37	c.188	CCDS3951.1	5	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249244	0.22880	.	.	ENSG00000112996	ENST00000507110	T	0.16457	2.34	5.44	4.25	0.50352	.	0.560066	0.18639	N	0.135350	T	0.10895	0.0266	N	0.14661	0.345	0.09310	N	1	B	0.27625	0.183	B	0.25614	0.062	T	0.20940	-1.0260	10	0.41790	T	0.15	-0.869	11.9385	0.52886	0.0:0.0:0.2744:0.7256	.	63	Q9NP92	RT30_HUMAN	S	63	ENSP00000424328:I63S	ENSP00000424328:I63S	I	+	2	0	MRPS30	44845009	0.940000	0.31905	0.615000	0.29064	0.002000	0.02628	0.566000	0.23593	1.036000	0.39998	0.533000	0.62120	ATC	-	pfam_Ribosomal_L37/S30		0.632	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	protein_coding	OTTHUMT00000214033.2	T	NM_016640	-		44809252	1	no_errors	ENST00000507110	ensembl	human	known	74_37	missense	SNP	0.122	G	G	44809252	T	G	44809252	3	3	23	1	0	0	0	0	1	0	0	0	9842	1435	50	5	190	5	MRPS30	5	44809252	Missense_Mutation	SNP	T	TCGA-DX-A1KZ-01A-11D-A24N-09	44143095	44809252	136106008	10	1592											
DMXL1	1657	genome.wustl.edu	37	chr5	118451988	118451988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggcccatcctcgagcaGtaaatggattttcctggcgt	10	11	1	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr5:118451988G>A	ENST00000311085.8	+	7	780	c.700G>A	c.(700-702)Gta>Ata	p.V234I	DMXL1_ENST00000539542.1_Missense_Mutation_p.V234I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	234										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCTCGAGCAGTAAATGGATT	0.413																																																	0								ENSG00000172869						153	144	147					5																	118451988		2202	4300	6502	DMXL1	SO:0001583	missense	0			-	HGNC	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.700G>A	5.37:g.118451988G>A	ENSP00000309690:p.Val234Ile	Somatic	0	32	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	105	34	75.54		Missense_Mutation	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V234I	ENST00000311085.8	37	c.700	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591125	0.86851	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.67171	-0.25;-0.22;2.6	4.96	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.060135	0.64402	N	0.000003	T	0.79161	0.4399	M	0.66506	2.035	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80553	-0.1331	10	0.56958	D	0.05	-6.785	13.5794	0.61893	0.0758:0.0:0.9242:0.0	.	234;234	F5H269;Q9Y485	.;DMXL1_HUMAN	I	234	ENSP00000427692:V234I;ENSP00000309690:V234I;ENSP00000439479:V234I	ENSP00000309690:V234I	V	+	1	0	DMXL1	118479887	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.354000	0.73036	1.231000	0.43661	0.655000	0.94253	GTA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.413	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	G	NM_005509	-		118451988	1	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118451988	G	A	118451988	3	1	23	1	0	0	0	0	1	0	0	0	4596	1029	36	2	726	2	DMXL1	5	118451988	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	73642736	118451988	62463272	11	1593											
PAIP2	51247	genome.wustl.edu	37	chr5	138700262	138700262	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tataaatctagatagaagagGagttatgggaagaagaattt	11	1	1	5			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr5:138700262G>T	ENST00000394795.2	+	3	1139	c.148G>T	c.(148-150)Gag>Tag	p.E50*	PAIP2_ENST00000511381.1_3'UTR|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000510080.1_Nonsense_Mutation_p.E50*|PAIP2_ENST00000265192.4_Nonsense_Mutation_p.E50*|PAIP2_ENST00000511706.1_Intron			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	50	Glu-rich.|PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATAGAAGAGGAGTTATGGGA	0.353																																																	0								ENSG00000120727						61	61	61					5																	138700262		2203	4300	6503	PAIP2	SO:0001587	stop_gained	0			-	HGNC	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.148G>T	5.37:g.138700262G>T	ENSP00000378275:p.Glu50*	Somatic	0	43	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Nonsense_Mutation	SNP							pfam_Ataxin-2_C	p.E50*	ENST00000394795.2	37	c.148	CCDS4211.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.890966	0.99484	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.7834	16.8564	0.86007	0.0:0.1286:0.8714:0.0	.	.	.	.	X	50	.	ENSP00000265192:E50X	E	+	1	0	PAIP2	138728161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.408000	0.90221	1.509000	0.48786	0.655000	0.94253	GAG	-	NULL		0.353	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAIP2	protein_coding	OTTHUMT00000373002.1	G	NM_016480	-		138700262	1	no_errors	ENST00000265192	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	138700262	G	T	138700262	4	4	23	1	0	0	0	0	0	1	0	0	11399	1175	41	3	154	3	PAIP2	5	138700262	Nonsense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	20248274	138700262	42214998	12	1594											
NT5E	4907	genome.wustl.edu	37	chr6	86160038	86160038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgctgcatgggtggcGtggctcggctcttcaccaag	14	14	2	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr6:86160038G>C	ENST00000257770.3	+	1	230	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	NT5E_ENST00000369651.3_Missense_Mutation_p.V61L|NT5E_ENST00000369646.3_Missense_Mutation_p.V61L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	61					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CATGGGTGGCGTGGCTCGGCT	0.637																																					Melanoma(140;797 1765 2035 2752 18208)												0								ENSG00000135318						14	13	14					6																	86160038		2174	4252	6426	NT5E	SO:0001583	missense	0			-	HGNC	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.181G>C	6.37:g.86160038G>C	ENSP00000257770:p.Val61Leu	Somatic	0	11	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	B3KQI8|O75520|Q5W116	Missense_Mutation	SNP							pfam_5'-Nucleotdase_C,pfam_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.V61L	ENST00000257770.3	37	c.181	CCDS5002.1	6	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490212	0.64074	.	.	ENSG00000135318	ENST00000257770;ENST00000369646;ENST00000369651	T;T	0.52057	0.68;0.71	4.13	4.13	0.48395	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	L	0.33245	0.995	0.58432	D	0.999997	P;P;P	0.47910	0.902;0.838;0.876	P;P;P	0.52554	0.702;0.508;0.576	T	0.16778	-1.0391	10	0.39692	T	0.17	-10.7561	13.8826	0.63689	0.0:0.0:1.0:0.0	.	61;61;61	B3KQI8;P21589;Q96B60	.;5NTD_HUMAN;.	L	61	ENSP00000257770:V61L;ENSP00000358665:V61L	ENSP00000257770:V61L	V	+	1	0	NT5E	86216757	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.797000	0.75150	1.845000	0.53610	0.462000	0.41574	GTG	-	pfam_PEstase_dom		0.637	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	protein_coding	OTTHUMT00000041388.1	G		-		86160038	1	no_errors	ENST00000257770	ensembl	human	known	74_37	missense	SNP	1.000	C	C	86160038	G	C	86160038	3	2	23	1	0	0	0	0	1	0	0	0	10695	1145	40	4	183	4	NT5E	6	86160038	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09		86160038	84955029	13	1595											
OSBPL3	26031	genome.wustl.edu	37	chr7	24902873	24902873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccgccacctcctgtgCgatcttttttcctttttggg	9	13	1	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr7:24902873C>T	ENST00000313367.2	-	9	1267	c.816G>A	c.(814-816)tcG>tcA	p.S272S	OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396429.1_Silent_p.S272S|OSBPL3_ENST00000353930.1_Silent_p.S272S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	272					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACCTCCTGTGCGATCTTTTTT	0.463																																																	0								ENSG00000070882						127	110	116					7																	24902873		2203	4300	6503	OSBPL3	SO:0001819	synonymous_variant	0			-	HGNC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.816G>A	7.37:g.24902873C>T		Somatic	0	67	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S272	ENST00000313367.2	37	c.816	CCDS5390.1	7																																																																																			-	NULL		0.463	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	protein_coding	OTTHUMT00000214085.2	C		-		24902873	-1	no_errors	ENST00000313367	ensembl	human	known	74_37	silent	SNP	0.000	T	T	24902873	C	T	24902873	2	4	23	1	0	0	0	0	0	0	0	1	11281	755	27	1		1	OSBPL3	7	24902873	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		24902873	134235790	14	1596											
COBL	23242	genome.wustl.edu	37	chr7	51287560	51287560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacccgagggccccatcGtgggggggcttctggtcact	16	13	2	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr7:51287560G>A	ENST00000265136.7	-	2	288	c.123C>T	c.(121-123)caC>caT	p.H41H	COBL_ENST00000441453.1_Silent_p.H41H|COBL_ENST00000395542.2_Silent_p.H41H|COBL_ENST00000395540.2_Silent_p.H41H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGCCCCATCGTGGGGGGGCT	0.602																																					NSCLC(189;2119 2138 12223 30818 34679)												0								ENSG00000106078						41	43	42					7																	51287560		2203	4300	6503	COBL	SO:0001819	synonymous_variant	0			-	HGNC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.123C>T	7.37:g.51287560G>A		Somatic	0	41	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP							pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.H41	ENST00000265136.7	37	c.123	CCDS34637.1	7																																																																																			-	pfam_Cordon-bleu_ubiquitin_domain		0.602	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	protein_coding	OTTHUMT00000342682.1	G	NM_015198	-		51287560	-1	no_errors	ENST00000395542	ensembl	human	known	74_37	silent	SNP	0.000	A	A	51287560	G	A	51287560	2	1	23	1	0	0	0	0	0	0	0	1	3655	1136	40	1		1	COBL	7	51287560	Silent	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	26384687	51287560	107851103	15	1597											
PTCD1	26024	genome.wustl.edu	37	chr7	99017740	99017740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataggctcggaagccgtcAatcttctccaggtaggtgtt	11	9	3	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr7:99017740A>G	ENST00000292478.4	-	8	2203	c.1953T>C	c.(1951-1953)atT>atC	p.I651I	PTCD1_ENST00000555673.1_Silent_p.I700I|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I700I	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	651					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAGCCGTCAATCTTCTCCA	0.547																																																	0								ENSG00000248919						108	115	113					7																	99017740		2203	4300	6503	ATP5J2-PTCD1	SO:0001819	synonymous_variant	0			-	HGNC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1953T>C	7.37:g.99017740A>G		Somatic	0	42	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	Q3ZB78|Q66K60|Q9UDV2	Silent	SNP							pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.I700	ENST00000292478.4	37	c.2100	CCDS34691.1	7																																																																																			-	NULL		0.547	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	protein_coding	OTTHUMT00000336391.1	A	NM_015545	-		99017740	-1	no_errors	ENST00000413834	ensembl	human	known	74_37	silent	SNP	0.689	G	G	99017740	A	G	99017740	2	3	23	1	0	0	0	0	0	0	0	1	12732	126	5	5		5	PTCD1	7	99017740	Silent	SNP	A	TCGA-DX-A1KZ-01A-11D-A24N-09	47730180	99017740	60120923	16	1598											
ZAN	7455	genome.wustl.edu	37	chr7	100345958	100345958	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcccccagagggttttcctCagtgtgactttgaagacaac	9	11	1	4			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr7:100345958C>T	ENST00000348028.3	+	0	1279				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTTTTCCTCAGTGTGACTT	0.567																																																	0								ENSG00000146839						77	78	78					7																	100345958		1888	4113	6001	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345958C>T		Somatic	0	31	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.Q372*	ENST00000348028.3	37	c.1114		7	.	.	.	.	.	.	.	.	.	.	C	36	5.928835	0.97116	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.82	2.93	0.34026	.	0.745910	0.11159	N	0.593221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.8321	0.52301	0.0:0.6597:0.3403:0.0	.	.	.	.	X	372	.	ENSP00000423579:Q372X	Q	+	1	0	ZAN	100183894	0.990000	0.36364	0.973000	0.42090	0.621000	0.37620	1.325000	0.33724	0.644000	0.30656	0.555000	0.69702	CAG	-	superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386	-		100345958	1	no_errors	ENST00000546292	ensembl	human	known	74_37	nonsense	SNP	0.980	T	T	100345958	C	T	100345958	1	4	23	0	1	0	0	0	0	0	0	0	17520	827	29	2		2	ZAN	7	100345958	RNA	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09	1328218	100345958	58792705	17	1599											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113520119	113520119	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaattgactggatctgttGaaaatgtattcctttcatct	7	6	3	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr7:113520119G>T	ENST00000284601.3	-	4	1096	c.1028C>A	c.(1027-1029)tCa>tAa	p.S343*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	343					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						TGGATCTGTTGAAAATGTATT	0.353																																																	0								ENSG00000154415						137	136	136					7																	113520119		2203	4299	6502	PPP1R3A	SO:0001587	stop_gained	0			-	HGNC	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.1028C>A	7.37:g.113520119G>T	ENSP00000284601:p.Ser343*	Somatic	0	68	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP							pfam_CBM_21,pfscan_CBM_21	p.S343*	ENST00000284601.3	37	c.1028	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029030	0.93518	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	.	.	.	5.15	5.15	0.70609	.	1.059490	0.07445	N	0.898024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9754	17.1675	0.86820	0.0:0.0:1.0:0.0	.	.	.	.	X	343;22	.	ENSP00000284601:S343X	S	-	2	0	PPP1R3A	113307355	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	4.108000	0.57817	2.578000	0.87016	0.650000	0.86243	TCA	-	NULL		0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	G	NM_002711	-		113520119	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	113520119	G	T	113520119	4	4	23	1	0	0	0	0	0	1	0	0	12376	1294	45	3	2344	3	PPP1R3A	7	113520119	Nonsense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	13174161	113520119	45618544	18	1600											
CSMD3	114788	genome.wustl.edu	37	chr8	113651036	113651036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgttggaggaagatctgAaccagtcaggcgtgccagtg	15	7	2	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr8:113651036A>C	ENST00000297405.5	-	21	3659	c.3415T>G	c.(3415-3417)Tca>Gca	p.S1139A	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1035A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1139A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1099A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1139	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						GGAAGATCTGAACCAGTCAGG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						112	109	110					8																	113651036		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.3415T>G	8.37:g.113651036A>C	ENSP00000297405:p.Ser1139Ala	Somatic	0	62	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	65	15.58	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S1139A	ENST00000297405.5	37	c.3415	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633245	0.47049	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.36	5.36	0.76844	CUB (5);	0.200742	0.33457	N	0.004889	T	0.32194	0.0821	L	0.54323	1.7	0.24552	N	0.994019	B;B;P	0.35011	0.078;0.095;0.48	B;B;P	0.52957	0.053;0.088;0.714	T	0.22208	-1.0223	10	0.16896	T	0.51	.	15.343	0.74311	1.0:0.0:0.0:0.0	.	1035;1139;1099	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	1099;1139;479;1035;1139	ENSP00000345799:S1099A;ENSP00000297405:S1139A;ENSP00000341558:S479A;ENSP00000412263:S1035A;ENSP00000343124:S1139A	ENSP00000297405:S1139A	S	-	1	0	CSMD3	113720212	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.827000	0.62723	2.045000	0.60652	0.402000	0.26972	TCA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	A	NM_052900	-		113651036	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	C	C	113651036	A	C	113651036	3	2	23	1	0	0	0	0	1	0	0	0	3948	246	9	5	7912	5	CSMD3	8	113651036	Missense_Mutation	SNP	A	TCGA-DX-A1KZ-01A-11D-A24N-09		113651036	32712986	19	1601											
ZFAT	57623	genome.wustl.edu	37	chr8	135545136	135545136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttggcatactcctcaTtagggtgcttcctgttgtag	10	11	1	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr8:135545136T>A	ENST00000377838.3	-	12	3230	c.3056A>T	c.(3055-3057)aAt>aTt	p.N1019I	ZFAT_ENST00000523399.1_Missense_Mutation_p.N957I|ZFAT_ENST00000520727.1_Missense_Mutation_p.N1007I|ZFAT_ENST00000429442.2_Missense_Mutation_p.N1007I|ZFAT_ENST00000520214.1_Missense_Mutation_p.N1007I|ZFAT_ENST00000520356.1_Missense_Mutation_p.N1007I|ZFAT_ENST00000517307.1_5'UTR	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1019					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATACTCCTCATTAGGGTGCTT	0.622																																																	0								ENSG00000066827						55	56	55					8																	135545136		2038	4171	6209	ZFAT	SO:0001583	missense	0			-	HGNC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3056A>T	8.37:g.135545136T>A	ENSP00000367069:p.Asn1019Ile	Somatic	0	71	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	115	10.85	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N1019I	ENST00000377838.3	37	c.3056	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301024	0.40694	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.10668	2.92;2.86;2.88;2.85;2.86;2.89	5.58	1.81	0.25067	Zinc finger, C2H2 (1);	0.573533	0.20914	N	0.083412	T	0.11067	0.0270	L	0.57536	1.79	0.09310	N	1	P;P;P;B	0.47302	0.855;0.893;0.664;0.437	B;B;B;B	0.41619	0.289;0.361;0.216;0.109	T	0.15521	-1.0434	10	0.66056	D	0.02	-17.4915	6.0845	0.19960	0.0:0.1447:0.1374:0.7179	.	138;957;1007;1019	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	I	1007;1007;1007;1019;1007;906;957	ENSP00000427879:N1007I;ENSP00000427831:N1007I;ENSP00000394501:N1007I;ENSP00000367069:N1019I;ENSP00000428483:N1007I;ENSP00000429091:N957I	ENSP00000326997:N906I	N	-	2	0	ZFAT	135614318	0.838000	0.29461	0.931000	0.37212	0.266000	0.26442	2.406000	0.44557	0.077000	0.16863	0.477000	0.44152	AAT	-	pfscan_Znf_C2H2		0.622	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	T	NM_001029939	-		135545136	-1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	SNP	0.050	A	A	135545136	T	A	135545136	3	1	23	1	0	0	0	0	1	0	0	0	17639	1493	52	5	695	5	ZFAT	8	135545136	Missense_Mutation	SNP	T	TCGA-DX-A1KZ-01A-11D-A24N-09	21894100	135545136	10818886	20	1602											
CDK20	23552	genome.wustl.edu	37	chr9	90584819	90584819	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccattcaacagctcccccatGatgcagcccacagacctgtg	7	17	1	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr9:90584819G>A	ENST00000325303.8	-	6	884	c.579C>T	c.(577-579)atC>atT	p.I193I	CDK20_ENST00000605159.1_Silent_p.I172I|CDK20_ENST00000336654.5_Silent_p.I185I|CDK20_ENST00000375883.3_Silent_p.I172I|CDK20_ENST00000375871.4_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						GCTCCCCCATGATGCAGCCCA	0.567																																																	0								ENSG00000156345						80	79	80					9																	90584819		2203	4300	6503	CDK20	SO:0001819	synonymous_variant	0			-	HGNC	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"Cyclin-dependent kinases"	21420	protein-coding gene	gene with protein product		610076	"cell cycle related kinase"	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.579C>T	9.37:g.90584819G>A		Somatic	0	50	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I193	ENST00000325303.8	37	c.579	CCDS35060.1	9																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.567	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK20	protein_coding	OTTHUMT00000214996.1	G	NM_012119	-		90584819	-1	no_errors	ENST00000325303	ensembl	human	known	74_37	silent	SNP	1.000	A	A	90584819	G	A	90584819	2	1	23	1	0	0	0	0	0	0	0	1	3139	1280	45	2		2	CDK20	9	90584819	Silent	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09		90584819	50628612	21	1603											
SH2D3C	10044	genome.wustl.edu	37	chr9	130504201	130504201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagccggtgcagcccaGgatgtccacggccagcatga	14	14	0	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr9:130504201G>T	ENST00000314830.8	-	9	2067	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	SH2D3C_ENST00000373276.3_Missense_Mutation_p.L584M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L494M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L495M|SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L492M|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L298M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	652	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGCAGCCCAGGATGTCCACG	0.682																																																	0								ENSG00000095370						24	23	23					9																	130504201		2201	4296	6497	SH2D3C	SO:0001583	missense	0			-	HGNC	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1954C>A	9.37:g.130504201G>T	ENSP00000317817:p.Leu652Met	Somatic	0	46	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP							pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.L652M	ENST00000314830.8	37	c.1954	CCDS6877.1	9	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488146	0.84854	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.38401	1.57;1.21;1.57;1.14;1.14;1.14	5.93	5.93	0.95920	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.131649	0.51477	D	0.000099	T	0.61986	0.2391	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.994;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.993;1.0	T	0.64786	-0.6325	10	0.59425	D	0.04	-39.8365	12.2611	0.54651	0.0779:0.0:0.9221:0.0	.	492;652;584;495;494	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	M	495;494;584;492;298;652	ENSP00000362374:L495M;ENSP00000388536:L494M;ENSP00000362373:L584M;ENSP00000362371:L492M;ENSP00000394632:L298M;ENSP00000317817:L652M	ENSP00000317817:L652M	L	-	1	2	SH2D3C	129544022	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.701000	0.47094	2.808000	0.96608	0.563000	0.77884	CTG	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.682	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	protein_coding	OTTHUMT00000054264.1	G	NM_005489	-		130504201	-1	no_errors	ENST00000314830	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130504201	G	T	130504201	3	4	23	1	0	0	0	0	1	0	0	0	14242	991	35	3	644	3	SH2D3C	9	130504201	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	39919382	130504201	10709230	22	1604											
NRG3	10718	genome.wustl.edu	37	chr10	84744599	84744599	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtgtgttgaaagaccCctggacttaaagtaagaaga	12	6	0	4			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr10:84744599C>A	ENST00000404547.1	+	9	1644	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P	NRG3_ENST00000372141.2_Intron|NRG3_ENST00000404576.2_Intron|NRG3_ENST00000545131.1_Intron|NRG3_ENST00000372142.2_Silent_p.P327P|NRG3_ENST00000537893.1_Intron|NRG3_ENST00000556918.1_Intron			P56975	NRG3_HUMAN	neuregulin 3	548					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ttgaaagacccctggacttaa	0.438																																																	0								ENSG00000185737						133	115	120					10																	84744599		692	1591	2283	NRG3	SO:0001819	synonymous_variant	0			-	HGNC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1644C>A	10.37:g.84744599C>A		Somatic	0	60	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP							pfscan_EG-like_dom	p.P548	ENST00000404547.1	37	c.1644	CCDS31233.1	10																																																																																			-	NULL		0.438	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	protein_coding	OTTHUMT00000412262.1	C	XM_166086	-		84744599	1	no_errors	ENST00000404547	ensembl	human	known	74_37	silent	SNP	1.000	A	A	84744599	C	A	84744599	2	1	23	1	0	0	0	0	0	0	0	1	10651	610	22	3		3	NRG3	10	84744599	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		84744599	50790148	23	1605											
AGBL2	79841	genome.wustl.edu	37	chr11	47726171	47726171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggcctcttggtagaCaaaatggaaaagagctcttg	12	7	2	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr11:47726171C>T	ENST00000525123.1	-	7	795	c.510G>A	c.(508-510)ttG>ttA	p.L170L	AGBL2_ENST00000298861.4_Silent_p.L170L|AGBL2_ENST00000528244.1_Silent_p.L132L|AGBL2_ENST00000357610.3_Silent_p.L170L|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	170						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						TCTTGGTAGACAAAATGGAAA	0.438																																																	0								ENSG00000165923						132	125	127					11																	47726171		2201	4298	6499	AGBL2	SO:0001819	synonymous_variant	0			-	HGNC		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.510G>A	11.37:g.47726171C>T		Somatic	0	83	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP							pfam_Peptidase_M14	p.L170	ENST00000525123.1	37	c.510	CCDS7944.1	11																																																																																			-	NULL		0.438	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	protein_coding	OTTHUMT00000383726.2	C	NM_024783	-		47726171	-1	no_errors	ENST00000357610	ensembl	human	known	74_37	silent	SNP	0.001	T	T	47726171	C	T	47726171	2	4	23	1	0	0	0	0	0	0	0	1	376	477	17	2		2	AGBL2	11	47726171	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		47726171	87280345	24	1606											
TAPBPL	55080	genome.wustl.edu	37	chr12	6562370	6562370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgtgctgaagcaggtgCcagtgctggacgatggctcc	14	12	0	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr12:6562370C>T	ENST00000266556.7	+	2	367	c.202C>T	c.(202-204)Cca>Tca	p.P68S	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Intron|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	68					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GAAGCAGGTGCCAGTGCTGGA	0.602																																																	0								ENSG00000139192						63	49	54					12																	6562370		2203	4300	6503	TAPBPL	SO:0001583	missense	0			-	HGNC	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.202C>T	12.37:g.6562370C>T	ENSP00000266556:p.Pro68Ser	Somatic	0	59	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	131	38.21	Q9NWB8	Missense_Mutation	SNP							pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P68S	ENST00000266556.7	37	c.202	CCDS8546.1	12	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135908	0.56936	.	.	ENSG00000139192	ENST00000266556	T	0.07021	3.23	4.05	4.05	0.47172	.	0.351841	0.29572	N	0.011772	T	0.08133	0.0203	L	0.48877	1.53	0.37117	D	0.900626	P	0.40660	0.726	B	0.37888	0.26	T	0.35699	-0.9778	10	0.19590	T	0.45	-11.5478	11.9318	0.52851	0.0:1.0:0.0:0.0	.	68	Q9BX59	TPSNR_HUMAN	S	68	ENSP00000266556:P68S	ENSP00000266556:P68S	P	+	1	0	TAPBPL	6432631	0.962000	0.33011	1.000000	0.80357	0.888000	0.51559	1.148000	0.31614	2.276000	0.75962	0.655000	0.94253	CCA	-	NULL		0.602	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	protein_coding	OTTHUMT00000399263.1	C	NM_018009	-		6562370	1	no_errors	ENST00000266556	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6562370	C	T	6562370	3	4	23	1	0	0	0	0	1	0	0	0	15560	739	26	2	208	2	TAPBPL	12	6562370	Missense_Mutation	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		6562370	127289525	25	1607											
NFE2	4778	genome.wustl.edu	37	chr12	54686429	54686429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttccagcttcctcttgCggcagttctgggctgccacc	11	14	2	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr12:54686429C>T	ENST00000540264.2	-	2	1360	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.R284H|NFE2_ENST00000553070.1_Missense_Mutation_p.R284H|NFE2_ENST00000435572.2_Missense_Mutation_p.R284H			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	284	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTTCCTCTTGCGGCAGTTCTG	0.627																																																	0								ENSG00000123405						40	41	41					12																	54686429		2203	4300	6503	NFE2	SO:0001583	missense	0			-	HGNC	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.851G>A	12.37:g.54686429C>T	ENSP00000439120:p.Arg284His	Somatic	0	31	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	Q07720|Q6ICV9	Missense_Mutation	SNP							pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R284H	ENST00000540264.2	37	c.851	CCDS8876.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.438535	0.96168	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.38	5.38	0.77491	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94740	0.7918	10	0.87932	D	0	-15.8762	17.0019	0.86383	0.0:1.0:0.0:0.0	.	284	Q16621	NFE2_HUMAN	H	284	ENSP00000312436:R284H;ENSP00000397185:R284H;ENSP00000439120:R284H;ENSP00000447558:R284H;ENSP00000446929:R284H	ENSP00000312436:R284H	R	-	2	0	NFE2	52972696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	CGC	-	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.627	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	protein_coding	OTTHUMT00000405747.1	C	NM_006163	-		54686429	-1	no_errors	ENST00000312156	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54686429	C	T	54686429	3	4	23	1	0	0	0	0	1	0	0	0	10368	768	27	1	274	1	NFE2	12	54686429	Missense_Mutation	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09	48124059	54686429	79165466	26	1608											
AVIL	10677	genome.wustl.edu	37	chr12	58200182	58200182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgcctgagttcgcagCagaaagacatcattggagtt	11	9	2	3			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr12:58200182C>T	ENST00000257861.3	-	13	2062	c.1632G>A	c.(1630-1632)ctG>ctA	p.L544L	RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Silent_p.L537L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	544	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAGTTCGCAGCAGAAAGACAT	0.542																																																	0								ENSG00000135407						144	122	130					12																	58200182		2203	4300	6503	AVIL	SO:0001819	synonymous_variant	0			-	HGNC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1632G>A	12.37:g.58200182C>T		Somatic	0	26	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	305	18.23	B2RAU7|Q2NKM9	Silent	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.L544	ENST00000257861.3	37	c.1632	CCDS8959.1	12																																																																																			-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin		0.542	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	protein_coding	OTTHUMT00000409276.1	C	NM_006576	-		58200182	-1	no_errors	ENST00000257861	ensembl	human	known	74_37	silent	SNP	1.000	T	T	58200182	C	T	58200182	2	4	23	1	0	0	0	0	0	0	0	1	1227	697	25	2		2	AVIL	12	58200182	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09	3513753	58200182	75651713	27	1609											
OR5AU1	390445	genome.wustl.edu	37	chr14	21623506	21623506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcccatcacagaagaagtGagtgacgacatgagcaccgc	12	11	1	5			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr14:21623506G>T	ENST00000304418.3	-	1	716	c.679C>A	c.(679-681)Cac>Aac	p.H227N		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	227						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAGAAGAAGTGAGTGACGACA	0.478																																																	0								ENSG00000169327						81	73	76					14																	21623506		2203	4300	6503	OR5AU1	SO:0001583	missense	0			-	HGNC	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.679C>A	14.37:g.21623506G>T	ENSP00000302057:p.His227Asn	Somatic	0	36	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H227N	ENST00000304418.3	37	c.679	CCDS32042.1	14	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617189	0.46736	.	.	ENSG00000169327	ENST00000304418	T	0.00164	8.64	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.79475	2.455	0.46654	D	0.99914	D	0.54601	0.967	P	0.58391	0.838	T	0.82975	-0.0190	9	0.72032	D	0.01	.	13.9169	0.63905	0.0:0.0:1.0:0.0	.	227	Q8NGC0	O5AU1_HUMAN	N	227	ENSP00000302057:H227N	ENSP00000302057:H227N	H	-	1	0	OR5AU1	20693346	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.406000	0.66357	2.129000	0.65627	0.313000	0.20887	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.478	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AU1	protein_coding	OTTHUMT00000410213.1	G		-		21623506	-1	no_errors	ENST00000304418	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21623506	G	T	21623506	3	4	23	1	0	0	0	0	1	0	0	0	11149	1290	45	3	412	3	OR5AU1	14	21623506	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09		21623506	85726034	28	1610											
SYNE2	23224	genome.wustl.edu	37	chr14	64604609	64604609	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcctgaattagagggccaGatcgcaaaactggaagagca	12	8	0	4			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr14:64604609G>T	ENST00000344113.4	+	79	14963	c.14751G>T	c.(14749-14751)caG>caT	p.Q4917H	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4917H|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q1302H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1302H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4834H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1551H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4917					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGAGGGCCAGATCGCAAAAC	0.493																																																	0								ENSG00000054654						93	83	86					14																	64604609		2203	4300	6503	SYNE2	SO:0001583	missense	0			-	HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14751G>T	14.37:g.64604609G>T	ENSP00000341781:p.Gln4917His	Somatic	0	50	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP							pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q4917H	ENST00000344113.4	37	c.14751	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127050	0.37533	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.87	5.87	0.94306	.	0.000000	0.52532	D	0.000075	T	0.57315	0.2045	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.80764	0.991;0.994;0.978	T	0.57400	-0.7818	10	0.48119	T	0.1	.	10.5643	0.45163	0.1428:0.0:0.8572:0.0	.	1302;4917;4917	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	H	4917;1302;4917;4834;4834;1551;1302	ENSP00000350719:Q4917H;ENSP00000349969:Q1302H;ENSP00000341781:Q4917H;ENSP00000452570:Q4834H;ENSP00000450831:Q1551H;ENSP00000378249:Q1302H	ENSP00000261678:Q4834H	Q	+	3	2	SYNE2	63674362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.993000	0.49425	2.780000	0.95670	0.655000	0.94253	CAG	-	smart_Spectrin/alpha-actinin		0.493	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914	-		64604609	1	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64604609	G	T	64604609	3	4	23	1	0	0	0	0	1	0	0	0	15453	933	33	3	15061	3	SYNE2	14	64604609	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	42981103	64604609	42744931	29	1611											
HERC2	8924	genome.wustl.edu	37	chr15	28380835	28380835	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccatacccagtggcatAcagctaagaaaagaaaaagc	8	10	0	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr15:28380835A>C	ENST00000261609.7	-	79	12127	c.12019T>G	c.(12019-12021)Tat>Gat	p.Y4007D		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)		CCAGTGGCATACAGCTAAGAA	0.383																																																	0								ENSG00000128731						47	44	45					15																	28380835		2203	4300	6503	HERC2	SO:0001583	missense	0			-	HGNC	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.12019T>G	15.37:g.28380835A>C	ENSP00000261609:p.Tyr4007Asp	Somatic	0	34	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75		Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.Y4007D	ENST00000261609.7	37	c.12019	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413786	0.83449	.	.	ENSG00000128731	ENST00000261609	D	0.91237	-2.81	5.68	5.68	0.88126	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.062472	0.64402	D	0.000003	D	0.96056	0.8715	M	0.93594	3.435	0.80722	D	1	P	0.52061	0.95	P	0.59357	0.856	D	0.97019	0.9742	10	0.87932	D	0	.	15.9225	0.79586	1.0:0.0:0.0:0.0	.	4007	O95714	HERC2_HUMAN	D	4007	ENSP00000261609:Y4007D	ENSP00000261609:Y4007D	Y	-	1	0	HERC2	26054430	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	9.335000	0.96500	2.156000	0.67533	0.460000	0.39030	TAT	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,pfscan_Reg_chr_condens		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	A	NM_004667	-		28380835	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	1.000	C	C	28380835	A	C	28380835	3	2	23	1	0	0	0	0	1	0	0	0	7060	391	14	5	2545	5	HERC2	15	28380835	Missense_Mutation	SNP	A	TCGA-DX-A1KZ-01A-11D-A24N-09		28380835	74150557	30	1612											
HERC2	8924	genome.wustl.edu	37	chr15	28478362	28478362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggcaaagaacttaacaaTttaaacttagacattataga	7	6	0	3			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr15:28478362T>C	ENST00000261609.7	-	30	4713	c.4605A>G	c.(4603-4605)aaA>aaG	p.K1535K		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)		AACTTAACAATTTAAACTTAG	0.388																																																	0								ENSG00000128731						54	63	60					15																	28478362		2201	4295	6496	HERC2	SO:0001819	synonymous_variant	0			-	HGNC	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.4605A>G	15.37:g.28478362T>C		Somatic	0	187	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	149	11.83		Silent	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.K1535	ENST00000261609.7	37	c.4605	CCDS10021.1	15																																																																																			-	NULL		0.388	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	T	NM_004667	-		28478362	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	silent	SNP	0.986	C	C	28478362	T	C	28478362	2	2	23	1	0	0	0	0	0	0	0	1	7060	1490	52	5		5	HERC2	15	28478362	Silent	SNP	T	TCGA-DX-A1KZ-01A-11D-A24N-09	97527	28478362	74053030	31	1613											
C15orf52	388115	genome.wustl.edu	37	chr15	40628981	40628981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttccatcagggagcaatGgtgggggctgtagtttctgg	15	7	2	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr15:40628981G>A	ENST00000559313.1	-	8	923	c.908C>T	c.(907-909)cCa>cTa	p.P303L	C15orf52_ENST00000397536.2_Missense_Mutation_p.P93L|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	303							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		AGGGAGCAATGGTGGGGGCTG	0.577																																																	0								ENSG00000188549						62	68	66					15																	40628981		2203	4300	6503	C15orf52	SO:0001583	missense	0			-	HGNC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.908C>T	15.37:g.40628981G>A	ENSP00000453969:p.Pro303Leu	Somatic	0	50	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP							NULL	p.P303L	ENST00000559313.1	37	c.908	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377192	0.42105	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	T	0.56611	0.45	5.52	1.58	0.23477	.	0.351431	0.27513	N	0.019035	T	0.38427	0.1040	L	0.35723	1.085	0.09310	N	0.999998	B;B	0.17268	0.021;0.008	B;B	0.16722	0.016;0.011	T	0.26573	-1.0099	10	0.48119	T	0.1	0.2086	7.5693	0.27898	0.3384:0.0:0.6616:0.0	.	93;303	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	L	303;93	ENSP00000380670:P93L	ENSP00000372135:P303L	P	-	2	0	C15orf52	38416273	0.685000	0.27652	0.018000	0.16275	0.992000	0.81027	0.771000	0.26633	0.047000	0.15862	0.462000	0.41574	CCA	-	NULL		0.577	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	protein_coding	OTTHUMT00000319567.2	G	NM_207380	-		40628981	-1	no_errors	ENST00000559313	ensembl	human	known	74_37	missense	SNP	0.006	A	A	40628981	G	A	40628981	3	1	23	1	0	0	0	0	1	0	0	0	1802	1348	47	2	712	2	C15orf52	15	40628981	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	12150619	40628981	61902411	32	1614											
GRAMD2	196996	genome.wustl.edu	37	chr15	72454682	72454682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagccgagaaatacggaaCgccaggtaggatgaggacat	13	8	1	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr15:72454682C>T	ENST00000309731.7	-	11	1006	c.993G>A	c.(991-993)gcG>gcA	p.A331A	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	331						integral component of membrane (GO:0016021)		p.A331A(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AAATACGGAACGCCAGGTAGG	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000175318						88	80	82					15																	72454682		2199	4297	6496	GRAMD2	SO:0001819	synonymous_variant	0			-	HGNC	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.993G>A	15.37:g.72454682C>T		Somatic	0	38	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58	B3KT68	Silent	SNP							pfam_GRAM,smart_GRAM	p.A331	ENST00000309731.7	37	c.993	CCDS32283.1	15																																																																																			-	NULL		0.478	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	protein_coding	OTTHUMT00000420040.1	C	NM_001012642	-		72454682	-1	no_errors	ENST00000309731	ensembl	human	known	74_37	silent	SNP	0.927	T	T	72454682	C	T	72454682	2	4	23	1	0	0	0	0	0	0	0	1	6752	523	19	1		1	GRAMD2	15	72454682	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09	31825701	72454682	30076710	33	1615											
GEMIN4	50628	genome.wustl.edu	37	chr17	651068	651068	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaccttggcccagatgAtgatcagggctttcttcttc	10	11	3	4			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr17:651068A>T	ENST00000319004.5	-	2	333	c.215T>A	c.(214-216)aTc>aAc	p.I72N	GEMIN4_ENST00000437269.1_Missense_Mutation_p.I72N|GEMIN4_ENST00000576778.1_Missense_Mutation_p.I61N	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	72					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)		GGCCCAGATGATGATCAGGGC	0.607																																																	0								ENSG00000179409						55	59	58					17																	651068		2017	4165	6182	GEMIN4	SO:0001583	missense	0			-	HGNC	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.215T>A	17.37:g.651068A>T	ENSP00000321706:p.Ile72Asn	Somatic	0	70	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	19.15	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP							NULL	p.I72N	ENST00000319004.5	37	c.215	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	A	17.81	3.479861	0.63849	.	.	ENSG00000179409	ENST00000319004;ENST00000437269	T;T	0.26660	1.72;1.72	5.66	4.58	0.56647	.	0.422970	0.25329	N	0.031449	T	0.45875	0.1364	M	0.64997	1.995	0.41415	D	0.987761	P;D	0.89917	0.925;1.0	P;D	0.76575	0.466;0.988	T	0.42224	-0.9464	10	0.87932	D	0	-12.4742	10.4214	0.44352	0.9228:0.0:0.0772:0.0	.	72;72	E7EN12;P57678	.;GEMI4_HUMAN	N	72	ENSP00000321706:I72N;ENSP00000392460:I72N	ENSP00000321706:I72N	I	-	2	0	GEMIN4	597818	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	4.300000	0.59079	0.985000	0.38656	0.533000	0.62120	ATC	-	NULL		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	protein_coding	OTTHUMT00000437181.1	A	NM_015721	-		651068	-1	no_errors	ENST00000319004	ensembl	human	known	74_37	missense	SNP	0.986	T	T	651068	A	T	651068	3	4	23	1	0	0	0	0	1	0	0	0	6332	333	12	5	2965	5	GEMIN4	17	651068	Missense_Mutation	SNP	A	TCGA-DX-A1KZ-01A-11D-A24N-09		651068	80544142	34	1616											
MAP3K14	100133991	genome.wustl.edu	37	chr17	43344928	43344928	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagggaggagacttgtttGgctctgggggctctggtggg	19	6	3	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr17:43344928G>T	ENST00000585780.1	+	0	1977				MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA					MAP3K14 antisense RNA 1																		AGACTTGTTTGGCTCTGGGGG	0.632																																																	0								ENSG00000006062						39	43	42					17																	43344928		1901	4112	6013	MAP3K14			0			-	HGNC	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43344928G>T		Somatic	0	59	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62		RNA	SNP							-	NULL	ENST00000585780.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042166	0.07452	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.87	-5.2	0.02823	Protein kinase-like domain (1);	1.164950	0.05773	N	0.607117	T	0.13798	0.0334	N	0.03115	-0.41	0.25924	N	0.983081	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31223	-0.9951	8	0.13853	T	0.58	.	8.4074	0.32622	0.0:0.2431:0.3853:0.3716	.	724;254	Q99558;Q6ZMZ1	M3K14_HUMAN;.	Q	723	.	ENSP00000342059:P723Q	P	-	2	0	MAP3K14	40700711	0.016000	0.18221	0.053000	0.19242	0.941000	0.58515	-0.392000	0.07314	-0.835000	0.04234	0.655000	0.94253	CCA	-	-		0.632	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	antisense	OTTHUMT00000450941.1	G	NR_024434	-		43344928	-1	no_errors	ENST00000344686	ensembl	human	known	74_37	rna	SNP	0.001	T	T	43344928	G	T	43344928	1	4	23	0	1	0	0	0	0	0	0	0	9250	1348	47	3		3	MAP3K14	17	43344928	RNA	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	42693860	43344928	37850282	35	1617											
TTC39C	125488	genome.wustl.edu	37	chr18	21712484	21712484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgactttgaaaacagattGcatgtccgcatccatgctgc	8	11	0	2			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr18:21712484G>T	ENST00000317571.3	+	14	1934	c.1698G>T	c.(1696-1698)ttG>ttT	p.L566F	TTC39C_ENST00000540918.2_Missense_Mutation_p.L259F|TTC39C_ENST00000304621.6_Missense_Mutation_p.L505F	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	566										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAAACAGATTGCATGTCCGCA	0.517																																																	0								ENSG00000168234						118	106	110					18																	21712484		2203	4300	6503	TTC39C	SO:0001583	missense	0			-	HGNC	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1698G>T	18.37:g.21712484G>T	ENSP00000323645:p.Leu566Phe	Somatic	0	59	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP							pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.L566F	ENST00000317571.3	37	c.1698	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603882	0.66445	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.60672	0.17;0.72;0.2	5.93	3.88	0.44766	.	0.061977	0.64402	N	0.000005	T	0.74726	0.3754	M	0.84585	2.705	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.77199	-0.2675	10	0.72032	D	0.01	-6.609	8.5967	0.33721	0.1329:0.153:0.7141:0.0	.	566	Q8N584	TT39C_HUMAN	F	505;566;259	ENSP00000306598:L505F;ENSP00000323645:L566F;ENSP00000443016:L259F	ENSP00000306598:L505F	L	+	3	2	TTC39C	19966482	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.864000	0.39469	1.473000	0.48159	0.655000	0.94253	TTG	-	NULL		0.517	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	protein_coding	OTTHUMT00000446107.1	G	NM_153211	-		21712484	1	no_errors	ENST00000317571	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21712484	G	T	21712484	3	4	23	1	0	0	0	0	1	0	0	0	16716	1310	46	3	1752	3	TTC39C	18	21712484	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09		21712484	56364764	36	1618											
SOCS6	9306	genome.wustl.edu	37	chr18	67992094	67992094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgaagatgaaaaaggcGgaaaaaacagatcaaaaagc	11	5	1	4			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr18:67992094G>A	ENST00000397942.3	+	2	506	c.190G>A	c.(190-192)Gga>Aga	p.G64R	SOCS6_ENST00000582322.1_Missense_Mutation_p.G64R	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	64					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAAAAAGGCGGAAAAAACAG	0.468																																					Melanoma(84;1024 1361 24382 36583 42651)												0								ENSG00000170677						99	101	100					18																	67992094		2203	4300	6503	SOCS6	SO:0001583	missense	0			-	HGNC	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.190G>A	18.37:g.67992094G>A	ENSP00000381034:p.Gly64Arg	Somatic	0	35	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q8WUM3	Missense_Mutation	SNP							pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.G64R	ENST00000397942.3	37	c.190	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386785	0.11524	.	.	ENSG00000170677	ENST00000397942	T	0.25749	1.78	5.49	4.62	0.57501	.	0.572237	0.16499	N	0.211758	T	0.22820	0.0551	L	0.48642	1.525	0.40367	D	0.979301	P	0.36315	0.547	B	0.26693	0.072	T	0.07309	-1.0779	10	0.87932	D	0	-7.8817	14.3933	0.66994	0.0708:0.0:0.9292:0.0	.	64	O14544	SOCS6_HUMAN	R	64	ENSP00000381034:G64R	ENSP00000381034:G64R	G	+	1	0	SOCS6	66143074	1.000000	0.71417	0.037000	0.18230	0.077000	0.17291	5.667000	0.68067	1.321000	0.45227	0.561000	0.74099	GGA	-	NULL		0.468	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	protein_coding	OTTHUMT00000256270.2	G		-		67992094	1	no_errors	ENST00000397942	ensembl	human	known	74_37	missense	SNP	0.984	A	A	67992094	G	A	67992094	3	1	23	1	0	0	0	0	1	0	0	0	14926	1117	39	1	192	1	SOCS6	18	67992094	Missense_Mutation	SNP	G	TCGA-DX-A1KZ-01A-11D-A24N-09	46279610	67992094	10085154	37	1619											
APC2	10297	genome.wustl.edu	37	chr19	1455427	1455427	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccggcagcagcttgagttCgaggcccagcacatccgctc	11	15	0	1			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr19:1455427C>T	ENST00000535453.1	+	5	2280	c.567C>T	c.(565-567)ttC>ttT	p.F189F	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.F189F|APC2_ENST00000238483.4_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGCTTGAGTTCGAGGCCCAGC	0.716																																																	0								ENSG00000115266						19	17	18					19																	1455427		2193	4296	6489	APC2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.567C>T	19.37:g.1455427C>T		Somatic	0	47	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP							pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.F189	ENST00000535453.1	37	c.567	CCDS12068.1	19																																																																																			-	pfam_APC_dom		0.716	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	protein_coding	OTTHUMT00000449539.2	C	NM_005883	-		1455427	1	no_errors	ENST00000233607	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1455427	C	T	1455427	2	4	23	1	0	0	0	0	0	0	0	1	764	883	31	1		1	APC2	19	1455427	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		1455427	57673556	38	1620											
ZFR2	23217	genome.wustl.edu	37	chr19	3825349	3825349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggggggctctctgtggcCagtgcaggctcgagggtggg	21	10	1	0			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chr19:3825349C>T	ENST00000262961.4	-	7	1102	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	364							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTCTGTGGCCAGTGCAGGCT	0.701																																																	0								ENSG00000105278						10	14	13					19																	3825349		1947	4125	6072	ZFR2	SO:0001819	synonymous_variant	0			-	HGNC	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1092G>A	19.37:g.3825349C>T		Somatic	0	56	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	71	49.29		Silent	SNP							pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.L364	ENST00000262961.4	37	c.1092	CCDS45921.1	19																																																																																			-	NULL		0.701	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	protein_coding	OTTHUMT00000453648.2	C	NM_015174	-		3825349	-1	no_errors	ENST00000262961	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3825349	C	T	3825349	2	4	23	1	0	0	0	0	0	0	0	1	17667	581	21	2		2	ZFR2	19	3825349	Silent	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09	2369922	3825349	55303634	39	1621											
ATP7A	538	genome.wustl.edu	37	chrX	77289278	77289278	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgccagtaatgaacagtCatcaacttcgtcttccatga	7	10	3	3			TCGA-DX-A1KZ-01A-11D-A24N-09	TCGA-DX-A1KZ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aacfaf58-eb86-443a-a1d0-54c121ca3733	11c93f95-9863-4cb0-a348-f35a54b2071a	g.chrX:77289278C>T	ENST00000341514.6	+	17	3625	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	ATP7A_ENST00000350425.4_Missense_Mutation_p.S160L|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1079L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1157					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATGAACAGTCATCAACTTCG	0.353																																																	0								ENSG00000165240						126	116	119					X																	77289278		2203	4296	6499	ATP7A	SO:0001583	missense	0			-	HGNC	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3470C>T	X.37:g.77289278C>T	ENSP00000345728:p.Ser1157Leu	Somatic	0	32	0		0.539260681808624				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP							pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.S1157L	ENST00000341514.6	37	c.3470	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787861	0.31593	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97279	-3.9;-4.32;-3.94	4.63	4.63	0.57726	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.517604	0.20710	N	0.087106	D	0.92241	0.7539	N	0.22421	0.69	0.43149	D	0.994917	B	0.29432	0.244	B	0.22753	0.041	D	0.90347	0.4363	10	0.23891	T	0.37	0.0664	12.3803	0.55303	0.0:1.0:0.0:0.0	.	1157	Q04656	ATP7A_HUMAN	L	1079;160;1157	ENSP00000343026:S1079L;ENSP00000343678:S160L;ENSP00000345728:S1157L	ENSP00000345728:S1157L	S	+	2	0	ATP7A	77175934	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.440000	0.44855	2.215000	0.71742	0.600000	0.82982	TCA	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB		0.353	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	protein_coding	OTTHUMT00000057306.1	C	NM_000052	-		77289278	1	no_errors	ENST00000341514	ensembl	human	known	74_37	missense	SNP	0.987	T	T	77289278	C	T	77289278	3	4	23	1	0	0	0	0	1	0	0	0	1190	838	29	2	3532	2	ATP7A	23	77289278	Missense_Mutation	SNP	C	TCGA-DX-A1KZ-01A-11D-A24N-09		77289278	77981282	40	1622											
PAFAH2	5051	genome.wustl.edu	37	chr1	26308893	26308893	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagccaccaggcaagatgtTgaagacagtctgcccagcag	11	12	1	3			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:26308893T>G	ENST00000374282.3	-	7	807	c.628A>C	c.(628-630)Aac>Cac	p.N210H	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.N210H	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	210					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAAGATGTTGAAGACAGTC	0.502																																																	0								ENSG00000158006						139	121	127					1																	26308893		2203	4300	6503	PAFAH2	SO:0001583	missense	0			-	HGNC	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.628A>C	1.37:g.26308893T>G	ENSP00000363400:p.Asn210His	Somatic	0	52	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	33	0	0	42	28.81	17	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote	p.N210H	ENST00000374282.3	37	c.628	CCDS270.1	1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642886	0.67244	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.58797	0.31;0.31	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	T	0.69566	0.3125	L	0.43923	1.385	0.41313	D	0.987124	D	0.89917	1.0	D	0.91635	0.999	T	0.72064	-0.4403	10	0.62326	D	0.03	-19.5164	15.0621	0.71964	0.0:0.0:0.0:1.0	.	210	Q99487	PAFA2_HUMAN	H	210	ENSP00000363400:N210H;ENSP00000363402:N210H	ENSP00000363400:N210H	N	-	1	0	PAFAH2	26181480	1.000000	0.71417	0.938000	0.37757	0.409000	0.31022	4.976000	0.63785	2.206000	0.71126	0.533000	0.62120	AAC	-	pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote		0.502	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH2	protein_coding	OTTHUMT00000019544.1	T	NM_000437	-		26308893	-1	no_errors	ENST00000374282	ensembl	human	known	74_37	missense	SNP	0.998	G	G	26308893	T	G	26308893	3	3	24	1	0	0	0	0	1	0	0	0	11389	1812	63	5	570	5	PAFAH2	1	26308893	Missense_Mutation	SNP	T	TCGA-DX-A1L0-01A-11D-A24N-09		26308893	222941728	1	1623											
SMPDL3B	27293	genome.wustl.edu	37	chr1	28282224	28282224	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcggccacgtgcccccgggGttctttgagaagacgcaaaa	13	12	1	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:28282224G>C	ENST00000373894.3	+	6	911	c.720G>C	c.(718-720)ggG>ggC	p.G240G	SMPDL3B_ENST00000549094.1_Silent_p.G192G|SMPDL3B_ENST00000373888.4_Silent_p.G240G|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	240					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGCCCCCGGGGTTCTTTGAGA	0.537																																																	0								ENSG00000130768						82	82	82					1																	28282224		2203	4300	6503	SMPDL3B	SO:0001819	synonymous_variant	0			-	HGNC	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.720G>C	1.37:g.28282224G>C		Somatic	0	41	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	21	0	0	46	26.98	17	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.G240	ENST00000373894.3	37	c.720	CCDS30655.1	1																																																																																			-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd		0.537	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	protein_coding	OTTHUMT00000011170.1	G	NM_014474	-		28282224	1	no_errors	ENST00000373894	ensembl	human	known	74_37	silent	SNP	0.057	C	C	28282224	G	C	28282224	2	2	24	1	0	0	0	0	0	0	0	1	14817	1248	44	4		4	SMPDL3B	1	28282224	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	1973331	28282224	220968397	2	1624											
BCAN	63827	genome.wustl.edu	37	chr1	156627954	156627954	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgggcagcctgacagCtacttcctgtctggagagaa	11	12	1	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:156627954C>G	ENST00000329117.5	+	12	2664	c.2328C>G	c.(2326-2328)agC>agG	p.S776R	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	776	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)					AGCCTGACAGCTACTTCCTGT	0.587											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132692						105	83	91					1																	156627954		2203	4300	6503	BCAN	SO:0001583	missense	0			-	HGNC	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.2328C>G	1.37:g.156627954C>G	ENSP00000331210:p.Ser776Arg	Somatic	0	105	0	1779	0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	54	34.15	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	22	0	0	20	47.37	18	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom	p.S776R	ENST00000329117.5	37	c.2328	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551742	0.86127	.	.	ENSG00000132692	ENST00000329117	T	0.17213	2.29	5.35	5.35	0.76521	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00807	-1.1558	10	0.72032	D	0.01	-23.262	16.5911	0.84765	0.0:1.0:0.0:0.0	.	776	Q96GW7	PGCB_HUMAN	R	776	ENSP00000331210:S776R	ENSP00000331210:S776R	S	+	3	2	BCAN	154894578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.784000	0.55416	2.781000	0.95711	0.655000	0.94253	AGC	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.587	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	protein_coding	OTTHUMT00000081844.2	C	NM_021948	-		156627954	1	no_errors	ENST00000329117	ensembl	human	known	74_37	missense	SNP	1.000	G	G	156627954	C	G	156627954	3	3	24	1	0	0	0	0	1	0	0	0	1345	796	28	4	2444	4	BCAN	1	156627954	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	128345730	156627954	92622667	3	1625											
ATP1A4	480	genome.wustl.edu	37	chr1	160124877	160124877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatcctgactcgaggtGgacccaatactgttacccca	9	12	0	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:160124877G>A	ENST00000368081.4	+	3	721	c.250G>A	c.(250-252)Gga>Aga	p.G84R		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	84					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTCGAGGTGGACCCAATAC	0.522																																																	0								ENSG00000132681						134	134	134					1																	160124877		2203	4300	6503	ATP1A4	SO:0001583	missense	0			-	HGNC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.250G>A	1.37:g.160124877G>A	ENSP00000357060:p.Gly84Arg	Somatic	0	92	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	194	18.14	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	27	0	0	117	16.43	23	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G84R	ENST00000368081.4	37	c.250	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461001	0.63513	.	.	ENSG00000132681	ENST00000368081	D	0.96011	-3.88	4.48	4.48	0.54585	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.061424	0.64402	D	0.000005	D	0.98563	0.9520	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99414	1.0931	10	0.87932	D	0	.	14.7024	0.69164	0.0:0.0:1.0:0.0	.	84	Q13733	AT1A4_HUMAN	R	84	ENSP00000357060:G84R	ENSP00000357060:G84R	G	+	1	0	ATP1A4	158391501	1.000000	0.71417	0.982000	0.44146	0.133000	0.20885	9.601000	0.98297	2.312000	0.78011	0.655000	0.94253	GGA	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC		0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	protein_coding	OTTHUMT00000077415.1	G	NM_144699	-		160124877	1	no_errors	ENST00000368081	ensembl	human	known	74_37	missense	SNP	1.000	A	A	160124877	G	A	160124877	3	1	24	1	0	0	0	0	1	0	0	0	1131	1349	47	2	260	2	ATP1A4	1	160124877	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	3496923	160124877	89125744	4	1626											
ATP1A4	480	genome.wustl.edu	37	chr1	160125005	160125005	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgtggcctacagcatccaGatatatttcaatgaggagcc	9	9	1	2	rs370755520	byFrequency	TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:160125005G>C	ENST00000368081.4	+	3	849	c.378G>C	c.(376-378)caG>caC	p.Q126H		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	126					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGCATCCAGATATATTTCA	0.498																																																	0								ENSG00000132681						51	48	49					1																	160125005		2203	4300	6503	ATP1A4	SO:0001583	missense	0			-	HGNC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.378G>C	1.37:g.160125005G>C	ENSP00000357060:p.Gln126His	Somatic	0	73	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	172	12.18	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	29	0	0	144	18.18	32	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.Q126H	ENST00000368081.4	37	c.378	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	6.331	0.429149	0.11987	.	.	ENSG00000132681	ENST00000368081	D	0.88741	-2.42	4.25	2.36	0.29203	.	0.134244	0.50627	N	0.000101	T	0.81312	0.4796	M	0.81614	2.55	0.80722	D	1	B	0.15719	0.014	B	0.15052	0.012	T	0.78003	-0.2374	10	0.56958	D	0.05	.	8.0998	0.30850	0.2011:0.0:0.7989:0.0	.	126	Q13733	AT1A4_HUMAN	H	126	ENSP00000357060:Q126H	ENSP00000357060:Q126H	Q	+	3	2	ATP1A4	158391629	1.000000	0.71417	0.091000	0.20842	0.003000	0.03518	3.185000	0.50934	0.436000	0.26393	-0.208000	0.12717	CAG	-	tigrfam_ATPase_P-typ_Na/K_IIC		0.498	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	protein_coding	OTTHUMT00000077415.1	G	NM_144699	-		160125005	1	no_errors	ENST00000368081	ensembl	human	known	74_37	missense	SNP	0.934	C	C	160125005	G	C	160125005	3	2	24	1	0	0	0	0	1	0	0	0	1131	933	33	4	388	4	ATP1A4	1	160125005	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	128	160125005	89125616	5	1627											
F11R	50848	genome.wustl.edu	37	chr1	160970420	160970420	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaagacatggggcacgtaCcaagcacgatgagcttgacc	12	11	0	4			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:160970420C>A	ENST00000368026.6	-	4	663		c.e4+1		F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_Splice_Site|F11R_ENST00000472573.1_Splice_Site	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GGGGCACGTACCAAGCACGAT	0.532																																																	0								ENSG00000158769						204	146	165					1																	160970420		2203	4300	6503	F11R	SO:0001630	splice_region_variant	0			-	HGNC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.388+1G>T	1.37:g.160970420C>A		Somatic	0	50	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	132	56	70.21	B7Z941	Splice_Site	SNP	27	0	0	41	78.53	150	-	e4+1	ENST00000368026.6	37	c.388+1	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125461	0.56721	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5755	0.84635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F11R	159237044	1.000000	0.71417	0.999000	0.59377	0.610000	0.37248	4.173000	0.58249	2.495000	0.84180	0.563000	0.77884	.	-	-		0.532	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	protein_coding	OTTHUMT00000071458.3	C	NM_016946	-	Intron	160970420	-1	no_errors	ENST00000368026	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	160970420	C	A	160970420	5	1	24	1	0	0	0	0	0	0	1	0	5340	521	18	3	538	3	F11R	1	160970420	Splice_Site	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	845415	160970420	88280201	6	1628											
F11R	50848	genome.wustl.edu	37	chr1	160970505	160970505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtatgtcccagtgtcttCccgtgtcacggacttgaagg	12	10	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:160970505C>T	ENST00000368026.6	-	4	578	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	102	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCAGTGTCTTCCCGTGTCACG	0.542																																																	0								ENSG00000158769						184	128	147					1																	160970505		2203	4300	6503	F11R	SO:0001583	missense	0			-	HGNC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.304G>A	1.37:g.160970505C>T	ENSP00000357005:p.Glu102Lys	Somatic	0	48	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	47	56.88	B7Z941	Missense_Mutation	SNP	31	0	0	38	70.31	90	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E102K	ENST00000368026.6	37	c.304	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146215	0.01714	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.32515	1.45;1.45	5.18	1.63	0.23807	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.376561	0.28760	N	0.014240	T	0.02380	0.0073	N	0.01761	-0.735	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.003;0.004;0.004;0.004	T	0.46735	-0.9170	10	0.02654	T	1	.	7.4737	0.27363	0.0:0.2751:0.0:0.7249	.	106;102;102;102	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	K	102;102;102;106	ENSP00000357005:E102K;ENSP00000394809:E106K	ENSP00000289779:E102K	E	-	1	0	F11R	159237129	0.997000	0.39634	0.883000	0.34634	0.009000	0.06853	0.798000	0.27014	0.021000	0.15133	-0.471000	0.05019	GAA	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	protein_coding	OTTHUMT00000071458.3	C	NM_016946	-		160970505	-1	no_errors	ENST00000368026	ensembl	human	known	74_37	missense	SNP	0.990	T	T	160970505	C	T	160970505	3	4	24	1	0	0	0	0	1	0	0	0	5340	864	30	2	623	2	F11R	1	160970505	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	85	160970505	88280116	7	1629											
OLFML2B	25903	genome.wustl.edu	37	chr1	161976156	161976156	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgtctggcatgctatctagGatgttttcagagcaattttc	9	7	3	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:161976156G>C	ENST00000294794.3	-	4	1077	c.654C>G	c.(652-654)atC>atG	p.I218M	OLFML2B_ENST00000367940.2_Missense_Mutation_p.I218M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	218					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTATCTAGGATGTTTTCAG	0.498																																																	0								ENSG00000162745						219	199	206					1																	161976156		2203	4300	6503	OLFML2B	SO:0001583	missense	0			-	HGNC	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.654C>G	1.37:g.161976156G>C	ENSP00000294794:p.Ile218Met	Somatic	0	76	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	29	0	0	40	32.20	19	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.I218M	ENST00000294794.3	37	c.654	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.363402	0.01235	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.45668	0.89;1.0	4.74	-0.935	0.10423	.	.	.	.	.	T	0.07279	0.0184	L	0.38175	1.15	0.25359	N	0.988798	P;P	0.35923	0.468;0.528	B;B	0.30401	0.115;0.107	T	0.24404	-1.0161	8	0.02654	T	1	.	5.4068	0.16326	0.3435:0.1384:0.5181:0.0	.	218;218	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	M	218	ENSP00000294794:I218M;ENSP00000356917:I218M	ENSP00000294794:I218M	I	-	3	3	OLFML2B	160242780	0.031000	0.19500	0.000000	0.03702	0.034000	0.12701	1.826000	0.39092	-0.059000	0.13154	-0.291000	0.09656	ATC	-	NULL		0.498	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	protein_coding	OTTHUMT00000060552.2	G	NM_015441	-		161976156	-1	no_errors	ENST00000294794	ensembl	human	known	74_37	missense	SNP	0.000	C	C	161976156	G	C	161976156	3	2	24	1	0	0	0	0	1	0	0	0	10860	1164	41	4	1618	4	OLFML2B	1	161976156	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	1005651	161976156	87274465	8	1630											
PBX1	5087	genome.wustl.edu	37	chr1	164761887	164761887	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttctggaggggcaggttCagacaactcagtggagcatt	15	8	3	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:164761887C>T	ENST00000420696.2	+	3	610	c.422C>T	c.(421-423)tCa>tTa	p.S141L	PBX1_ENST00000367897.1_Missense_Mutation_p.S141L|PBX1_ENST00000560641.1_Missense_Mutation_p.S36L|PBX1_ENST00000401534.1_Missense_Mutation_p.S141L|PBX1_ENST00000540246.1_Missense_Mutation_p.S36L|PBX1_ENST00000559240.1_Missense_Mutation_p.S141L|PBX1_ENST00000540236.1_Missense_Mutation_p.S141L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	141					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGGGCAGGTTCAGACAACTCA	0.592			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0								ENSG00000185630						25	31	29					1																	164761887		2203	4300	6503	PBX1	SO:0001583	missense	0			-	HGNC	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.422C>T	1.37:g.164761887C>T	ENSP00000405890:p.Ser141Leu	Somatic	0	61	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	30	0	0	50	0.00	0	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S141L	ENST00000420696.2	37	c.422	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283465	0.80803	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;D;D;D;D;D	0.88818	0.91;-2.32;-2.2;-2.33;-2.2;-2.43	5.23	5.23	0.72850	PBX (1);	0.058380	0.64402	D	0.000002	T	0.80768	0.4686	L	0.36672	1.1	0.09310	N	1.0	B;B;B;B;B	0.23990	0.04;0.019;0.035;0.005;0.095	B;B;B;B;B	0.29440	0.102;0.063;0.026;0.063;0.063	T	0.77948	-0.2396	9	0.38643	T	0.18	-5.8776	18.3959	0.90497	0.0:1.0:0.0:0.0	.	36;141;141;141;141	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	L	141;141;141;141;141;36	ENSP00000341455:S141L;ENSP00000405890:S141L;ENSP00000356872:S141L;ENSP00000439943:S141L;ENSP00000384856:S141L;ENSP00000440869:S36L	ENSP00000341455:S141L	S	+	2	0	PBX1	163028511	0.999000	0.42202	0.833000	0.33012	0.962000	0.63368	5.521000	0.67086	2.405000	0.81733	0.563000	0.77884	TCA	-	pfam_PBX		0.592	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	protein_coding	OTTHUMT00000082864.4	C	NM_002585	-		164761887	1	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	SNP	0.999	T	T	164761887	C	T	164761887	3	4	24	1	0	0	0	0	1	0	0	0	11494	838	29	2	432	2	PBX1	1	164761887	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	2785731	164761887	84488734	9	1631											
C1orf114	57821	genome.wustl.edu	37	chr1	169366506	169366506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctttcccggccttctgttcCtttaaggaagaataaacatt	6	11	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:169366506C>G	ENST00000367806.3	-	5	1491	c.1339G>C	c.(1339-1341)Gga>Cga	p.G447R	CCDC181_ENST00000545005.1_Missense_Mutation_p.G446R|CCDC181_ENST00000367805.3_Missense_Mutation_p.G446R	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	447						nucleus (GO:0005634)											CCTTCTGTTCCTTTAAGGAAG	0.388																																																	0								ENSG00000117477						120	107	111					1																	169366506		2203	4300	6503	CCDC181	SO:0001583	missense	0			-	HGNC	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1339G>C	1.37:g.169366506C>G	ENSP00000356780:p.Gly447Arg	Somatic	0	20	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	34	0	0	70	35.78	39	NULL	p.G447R	ENST00000367806.3	37	c.1339		1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349173	0.24426	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.21734	1.99;1.99;1.99	5.76	4.86	0.63082	.	0.155796	0.64402	D	0.000012	T	0.05640	0.0148	L	0.31120	0.905	0.29218	N	0.874113	B;B	0.15141	0.012;0.012	B;B	0.16722	0.016;0.016	T	0.26395	-1.0104	9	0.23302	T	0.38	-28.1596	8.4956	0.33125	0.0:0.793:0.0:0.207	.	447;446	Q5TID7;Q5TID7-3	CA114_HUMAN;.	R	446;447;446	ENSP00000356779:G446R;ENSP00000356780:G447R;ENSP00000442297:G446R	ENSP00000356779:G446R	G	-	1	0	C1orf114	167633130	1.000000	0.71417	0.894000	0.35097	0.966000	0.64601	1.923000	0.40055	1.581000	0.49865	-0.143000	0.13931	GGA	-	NULL		0.388	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC181	protein_coding	OTTHUMT00000086099.1	C	NM_021179	-		169366506	-1	no_errors	ENST00000367806	ensembl	human	known	74_37	missense	SNP	0.885	G	G	169366506	C	G	169366506	3	3	24	1	0	0	0	0	1	0	0	0	1989	690	24	4	198	4	C1orf114	1	169366506	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	4604619	169366506	79884115	10	1632											
HMCN1	83872	genome.wustl.edu	37	chr1	185902757	185902757	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagttttaacatgtctcatCatcagtgcggtggattacaa	9	8	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr1:185902757C>T	ENST00000271588.4	+	11	1858	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	HMCN1_ENST00000367492.2_Silent_p.I543I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	543	Ig-like C2-type 2.				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)			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						CATGTCTCATCATCAGTGCGG	0.463																																																	0								ENSG00000143341						103	98	100					1																	185902757		2203	4300	6503	HMCN1	SO:0001819	synonymous_variant	0			-	HGNC	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.1629C>T	1.37:g.185902757C>T		Somatic	0	71	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	137	20.35	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	21	0	0	136	19.53	33	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.I543	ENST00000271588.4	37	c.1629	CCDS30956.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	C	NM_031935	-		185902757	1	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	SNP	0.891	T	T	185902757	C	T	185902757	2	4	24	1	0	0	0	0	0	0	0	1	7222	816	29	2		2	HMCN1	1	185902757	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	16536251	185902757	63347864	11	1633											
DDX1	1653	genome.wustl.edu	37	chr2	15769733	15769733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaatttaggtttggtAccatgtatgtagcagccgtg	10	5	0	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:15769733A>C	ENST00000381341.2	+	25	2272	c.1883A>C	c.(1882-1884)tAc>tCc	p.Y628S	DDX1_ENST00000233084.3_Missense_Mutation_p.Y628S			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	628	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				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)			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)		TAGGTTTGGTACCATGTATGT	0.353																																																	0								ENSG00000079785						78	72	74					2																	15769733		2203	4300	6503	DDX1	SO:0001583	missense	0			-	HGNC	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.1883A>C	2.37:g.15769733A>C	ENSP00000370745:p.Tyr628Ser	Somatic	0	31	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B4DME8|B4DPN6	Missense_Mutation	SNP	33	0	0	28	34.88	15	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y628S	ENST00000381341.2	37	c.1883	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590852	0.86851	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.43294	0.95;0.95	5.65	5.65	0.86999	Helicase, C-terminal (1);	0.104961	0.64402	D	0.000002	T	0.65964	0.2742	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	P	0.61397	0.888	T	0.70432	-0.4873	10	0.52906	T	0.07	-17.5068	16.0399	0.80667	1.0:0.0:0.0:0.0	.	628	Q92499	DDX1_HUMAN	S	628;628;612	ENSP00000370745:Y628S;ENSP00000233084:Y628S	ENSP00000233084:Y628S	Y	+	2	0	DDX1	15687184	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.873000	0.69644	2.371000	0.80710	0.533000	0.62120	TAC	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.353	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	protein_coding	OTTHUMT00000207141.2	A	NM_004939	-		15769733	1	no_errors	ENST00000233084	ensembl	human	known	74_37	missense	SNP	1.000	C	C	15769733	A	C	15769733	3	2	24	1	0	0	0	0	1	0	0	0	4343	391	14	5	1977	5	DDX1	2	15769733	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09		15769733	227429640	12	1634											
PAPOLG	64895	genome.wustl.edu	37	chr2	61020798	61020798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtaattgtggagaaGccactgagtgtaccaccagc	12	10	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:61020798G>C	ENST00000238714.3	+	18	1965	c.1716G>C	c.(1714-1716)aaG>aaC	p.K572N		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	572					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTGTGGAGAAGCCACTGAGTG	0.323																																					GBM(183;1497 2932 21839 46797)												0								ENSG00000115421						48	46	46					2																	61020798		2203	4300	6503	PAPOLG	SO:0001583	missense	0			-	HGNC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1716G>C	2.37:g.61020798G>C	ENSP00000238714:p.Lys572Asn	Somatic	0	117	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	91	14.15	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	33	0	0	43	6.52	3	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.K572N	ENST00000238714.3	37	c.1716	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942829	0.34283	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.61	2.83	0.33086	.	0.398489	0.32015	N	0.006716	T	0.46502	0.1396	L	0.51422	1.61	0.30277	N	0.791673	P;D;B	0.55605	0.454;0.972;0.079	B;P;B	0.56398	0.038;0.797;0.065	T	0.43327	-0.9398	9	0.32370	T	0.25	-11.2571	8.3153	0.32097	0.2482:0.0:0.7518:0.0	.	261;106;572	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	N	572;261;240	.	ENSP00000238714:K572N	K	+	3	2	PAPOLG	60874302	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.677000	0.46892	0.838000	0.34948	-0.136000	0.14681	AAG	-	pirsf_PolyA_polymerase		0.323	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	protein_coding	OTTHUMT00000251577.3	G	NM_022894	-		61020798	1	no_errors	ENST00000238714	ensembl	human	known	74_37	missense	SNP	1.000	C	C	61020798	G	C	61020798	3	2	24	1	0	0	0	0	1	0	0	0	11433	962	34	4	1786	4	PAPOLG	2	61020798	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	45251065	61020798	182178575	13	1635											
AFF3	3899	genome.wustl.edu	37	chr2	100209926	100209926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctccagctccttggcgatgtCactggtggtcctggcgttga	13	12	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:100209926C>G	ENST00000409236.2	-	13	2309	c.2197G>C	c.(2197-2199)Gac>Cac	p.D733H	AFF3_ENST00000356421.2_Missense_Mutation_p.D758H|AFF3_ENST00000317233.4_Missense_Mutation_p.D733H|AFF3_ENST00000409579.1_Missense_Mutation_p.D758H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	733					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGGCGATGTCACTGGTGGTC	0.597																																																	0								ENSG00000144218						70	69	69					2																	100209926		2203	4300	6503	AFF3	SO:0001583	missense	0			-	HGNC	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2197G>C	2.37:g.100209926C>G	ENSP00000387207:p.Asp733His	Somatic	0	72	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	59	25.32	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	27	0	0	26	31.58	12	pfam_TF_AF4/FMR2	p.D758H	ENST00000409236.2	37	c.2272	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545669	0.65198	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.75	4.75	0.60458	.	0.098151	0.44688	D	0.000439	T	0.76449	0.3989	L	0.51422	1.61	0.43292	D	0.995277	P;D;P	0.64830	0.828;0.994;0.454	P;D;B	0.63033	0.621;0.91;0.047	T	0.77675	-0.2499	10	0.52906	T	0.07	.	17.9343	0.89008	0.0:1.0:0.0:0.0	.	886;733;758	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	H	733;758;758;733;733;886;758	ENSP00000317421:D733H;ENSP00000348793:D758H;ENSP00000386834:D758H;ENSP00000387207:D733H	ENSP00000317421:D733H	D	-	1	0	AFF3	99576358	0.997000	0.39634	0.998000	0.56505	0.993000	0.82548	3.905000	0.56333	2.483000	0.83821	0.561000	0.74099	GAC	-	pfam_TF_AF4/FMR2		0.597	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	protein_coding	OTTHUMT00000328982.3	C	NM_002285	-		100209926	-1	no_errors	ENST00000356421	ensembl	human	known	74_37	missense	SNP	0.997	G	G	100209926	C	G	100209926	3	3	24	1	0	0	0	0	1	0	0	0	358	826	29	4	1527	4	AFF3	2	100209926	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	39189128	100209926	142989447	14	1636											
THSD7B	80731	genome.wustl.edu	37	chr2	138378229	138378229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccctgcttggtggaatgCgtggtcaactgtcagctctc	11	11	3	0	rs200261966		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:138378229C>T	ENST00000409968.1	+	20	3910	c.3732C>T	c.(3730-3732)tgC>tgT	p.C1244C	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.C1247C|THSD7B_ENST00000413152.2_Silent_p.C1216C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1246	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGGTGGAATGCGTGGTCAACT	0.468																																																	0								ENSG00000144229	C		0,3854		0,0,1927	195	186	189		3645	-0.9	1	2		189	6,8302		0,6,4148	yes	coding-synonymous	THSD7B	NM_001080427.1		0,6,6075	TT,TC,CC		0.0722,0.0,0.0493		1215/1578	138378229	6,12156	1927	4154	6081	THSD7B	SO:0001819	synonymous_variant	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3732C>T	2.37:g.138378229C>T		Somatic	0	80	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	38	38.71		Silent	SNP	27	0	0	27	36.36	16	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C1247	ENST00000409968.1	37	c.3741		2																																																																																			-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9	rs200261966		138378229	1	no_errors	ENST00000272643	ensembl	human	known	74_37	silent	SNP	1.000	T	T	138378229	C	T	138378229	2	4	24	1	0	0	0	0	0	0	0	1	15887	776	27	1		1	THSD7B	2	138378229	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	38168303	138378229	104821144	15	1637											
ERMN	57471	genome.wustl.edu	37	chr2	158178133	158178133	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtttagaatgtaacatgtCagcttggctaggttttcgaa	10	5	1	1	rs374683748		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:158178133C>A	ENST00000410096.1	-	3	796	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	ERMN_ENST00000420719.2_Missense_Mutation_p.D149Y|ERMN_ENST00000397283.2_Missense_Mutation_p.D182Y|ERMN_ENST00000535935.1_Missense_Mutation_p.D63Y	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	169					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGTAACATGTCAGCTTGGCTA	0.413																																																	0								ENSG00000136541	C	TYR/ASP,TYR/ASP	0,3882		0,0,1941	177	167	170		544,505	2.9	0	2		170	1,8285		0,1,4142	no	missense,missense	ERMN	NM_001009959.1,NM_020711.1	160,160	0,1,6083	AA,AC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging	182/298,169/285	158178133	1,12167	1941	4143	6084	ERMN	SO:0001583	missense	0			-	HGNC	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.505G>T	2.37:g.158178133C>A	ENSP00000387047:p.Asp169Tyr	Somatic	0	86	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33	B4DKA6|Q9ULN1	Missense_Mutation	SNP	28	0	0	22	29.03	9	superfamily_Moesin_tail	p.D182Y	ENST00000410096.1	37	c.544	CCDS46431.1	2	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865276	0.32977	0.0	1.21E-4	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.83	2.92	0.33932	.	0.560739	0.18340	N	0.144213	T	0.28699	0.0711	L	0.27053	0.805	0.09310	N	1	P;P;P	0.49090	0.919;0.919;0.919	P;P;P	0.46208	0.507;0.507;0.507	T	0.08229	-1.0732	9	0.87932	D	0	-5.8505	7.9375	0.29939	0.0:0.6104:0.3063:0.0833	.	149;182;169	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	Y	169;182;63;149	.	ENSP00000380453:D182Y	D	-	1	0	ERMN	157886379	0.000000	0.05858	0.002000	0.10522	0.783000	0.44284	0.463000	0.21972	0.785000	0.33685	0.655000	0.94253	GAC	-	NULL		0.413	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	protein_coding	OTTHUMT00000332659.1	C	NM_001009959	-		158178133	-1	no_errors	ENST00000397283	ensembl	human	known	74_37	missense	SNP	0.001	A	A	158178133	C	A	158178133	3	1	24	1	0	0	0	0	1	0	0	0	5237	826	29	3	353	3	ERMN	2	158178133	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	19799904	158178133	85021240	16	1638											
CAB39	51719	genome.wustl.edu	37	chr2	231678816	231678816	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaattatgtgacaaaaaGacagtcactgaaggtatgac	9	5	1	5			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:231678816G>T	ENST00000258418.5	+	7	1109	c.680G>T	c.(679-681)aGa>aTa	p.R227I	CAB39_ENST00000410084.3_Missense_Mutation_p.R227I|CAB39_ENST00000409788.3_Missense_Mutation_p.R227I	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	227					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|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 protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GTGACAAAAAGACAGTCACTG	0.338																																																	0								ENSG00000135932						119	119	119					2																	231678816		2203	4300	6503	CAB39	SO:0001583	missense	0			-	HGNC	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.680G>T	2.37:g.231678816G>T	ENSP00000258418:p.Arg227Ile	Somatic	0	67	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	A8K8L7	Missense_Mutation	SNP	38	0	0	18	5.26	1	pfam_Mo25,superfamily_ARM-type_fold	p.R227I	ENST00000258418.5	37	c.680	CCDS2478.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790586	0.90367	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.35789	1.29;1.29;1.29	5.25	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79694	-0.1696	10	0.72032	D	0.01	.	16.6865	0.85310	0.0:0.0:1.0:0.0	.	227	Q9Y376	CAB39_HUMAN	I	227	ENSP00000258418:R227I;ENSP00000386238:R227I;ENSP00000386642:R227I	ENSP00000258418:R227I	R	+	2	0	CAB39	231387060	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.818000	0.99354	2.601000	0.87937	0.591000	0.81541	AGA	-	pfam_Mo25,superfamily_ARM-type_fold		0.338	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	protein_coding	OTTHUMT00000256955.2	G	NM_016289	-		231678816	1	no_errors	ENST00000258418	ensembl	human	known	74_37	missense	SNP	1.000	T	T	231678816	G	T	231678816	3	4	24	1	0	0	0	0	1	0	0	0	2527	942	33	3	702	3	CAB39	2	231678816	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	73500683	231678816	11520557	17	1639											
PASK	23178	genome.wustl.edu	37	chr2	242046865	242046865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcttctccaaggtggtGcgtctctcagggactggctg	13	12	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr2:242046865G>A	ENST00000405260.1	-	17	4415	c.3717C>T	c.(3715-3717)cgC>cgT	p.R1239R	PASK_ENST00000475666.1_5'Flank|PASK_ENST00000539818.1_Silent_p.R1023R|PASK_ENST00000234040.4_Silent_p.R1239R|PASK_ENST00000358649.4_Silent_p.R1246R|PASK_ENST00000544142.1_Silent_p.R1053R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCAAGGTGGTGCGTCTCTCAG	0.532																																																	0								ENSG00000115687						156	148	151					2																	242046865		2203	4300	6503	PASK	SO:0001819	synonymous_variant	0			-	HGNC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3717C>T	2.37:g.242046865G>A		Somatic	0	83	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	12	70.73	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	23	0	0	10	64.29	18	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS	p.R1246	ENST00000405260.1	37	c.3738	CCDS2545.1	2																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	protein_coding	OTTHUMT00000323753.1	G	NM_015148	-		242046865	-1	no_errors	ENST00000358649	ensembl	human	known	74_37	silent	SNP	0.995	A	A	242046865	G	A	242046865	2	1	24	1	0	0	0	0	0	0	0	1	11474	1306	46	2		2	PASK	2	242046865	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	10368049	242046865	1152508	18	1640											
CNTN6	27255	genome.wustl.edu	37	chr3	1415693	1415693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaatttcgtgttgttgcCggcaacagcattgggattgg	13	6	0	1	rs148069303	byFrequency	TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:1415693C>T	ENST00000446702.2	+	16	2658	c.2031C>T	c.(2029-2031)gcC>gcT	p.A677A	CNTN6_ENST00000350110.2_Silent_p.A677A|CNTN6_ENST00000539053.1_Silent_p.A605A			Q9UQ52	CNTN6_HUMAN	contactin 6	677	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)		GTGTTGTTGCCGGCAACAGCA	0.383																																																	0								ENSG00000134115	C		0,4406		0,0,2203	139	132	135		2031	-0.5	1	3	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CNTN6	NM_014461.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		677/1029	1415693	2,13004	2203	4300	6503	CNTN6	SO:0001819	synonymous_variant	0			-	HGNC	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.2031C>T	3.37:g.1415693C>T		Somatic	0	66	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	28	37.78	Q2KHM2	Silent	SNP	20	0	0	26	35.00	14	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A677	ENST00000446702.2	37	c.2031	CCDS2557.1	3																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	protein_coding	OTTHUMT00000239235.2	C	NM_014461	rs148069303		1415693	1	no_errors	ENST00000350110	ensembl	human	known	74_37	silent	SNP	0.339	T	T	1415693	C	T	1415693	2	4	24	1	0	0	0	0	0	0	0	1	3647	639	23	1		1	CNTN6	3	1415693	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		1415693	196606737	19	1641											
PRSS42	339906	genome.wustl.edu	37	chr3	46874437	46874437	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttgaagtctcaccacGttctggtgttttgccccatc	8	14	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:46874437G>A	ENST00000429665.1	-	3	630	c.631C>T	c.(631-633)Cga>Tga	p.R211*	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						GTCTCACCACGTTCTGGTGTT	0.542																																																	0								ENSG00000178055						82	80	81					3																	46874437		2051	4196	6247	PRSS42	SO:0001630	splice_region_variant	0			-	HGNC		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"Serine peptidases / Serine peptidases"	30716	protein-coding gene	gene with protein product	"testis serine protease 2"					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.631+1C>T	3.37:g.46874437G>A		Somatic	1	109	0.91		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	49	40.24		Nonsense_Mutation	SNP	28	0	0	25	35.90	14	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R211*	ENST00000429665.1	37	c.631	CCDS46816.1	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348940	0.24426	.	.	ENSG00000178055	ENST00000429665	.	.	.	3.67	-3.25	0.05079	.	2.281760	0.02329	N	0.073733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9721	0.01418	0.2886:0.3095:0.2281:0.1738	.	.	.	.	X	211	.	.	R	-	1	2	PRSS42	46849441	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.200000	0.01237	-0.760000	0.04677	-2.617000	0.00157	CGA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.542	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	protein_coding	OTTHUMT00000344347.1	G	NM_182702	-	Nonsense_Mutation	46874437	-1	no_errors	ENST00000429665	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	46874437	G	A	46874437	5	1	24	1	0	0	0	0	0	0	1	0	12633	1159	40	1	261	1	PRSS42	3	46874437	Splice_Site	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	45458744	46874437	151147993	20	1642											
PROS1	5627	genome.wustl.edu	37	chr3	93605266	93605266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccattttccggcttaaaaaGgggtccaggtttatttatat	8	7	0	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:93605266G>T	ENST00000394236.3	-	11	1553	c.1237C>A	c.(1237-1239)Ctt>Att	p.L413I	PROS1_ENST00000407433.1_Missense_Mutation_p.L282I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	413	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.L413I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGCTTAAAAAGGGGTCCAGGT	0.363																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000184500						142	156	151					3																	93605266		2203	4300	6503	PROS1	SO:0001583	missense	0			-	HGNC		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1237C>A	3.37:g.93605266G>T	ENSP00000377783:p.Leu413Ile	Somatic	0	56	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	33.33	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	25	0	0	26	42.22	19	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.L413I	ENST00000394236.3	37	c.1237	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076435	0.76415	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.76709	-1.04;-1.04	3.42	3.42	0.39159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	U	0.000000	D	0.87696	0.6242	M	0.79805	2.47	0.58432	D	0.999998	D	0.69078	0.997	D	0.85130	0.997	D	0.89783	0.3962	10	0.66056	D	0.02	.	15.0387	0.71770	0.0:0.0:1.0:0.0	.	413	P07225	PROS_HUMAN	I	413;282	ENSP00000377783:L413I;ENSP00000385794:L282I	ENSP00000377783:L413I	L	-	1	0	PROS1	95087956	1.000000	0.71417	0.992000	0.48379	0.923000	0.55619	8.859000	0.92264	1.735000	0.51646	0.655000	0.94253	CTT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.363	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	protein_coding	OTTHUMT00000317762.1	G	NM_000313	-		93605266	-1	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	SNP	0.999	T	T	93605266	G	T	93605266	3	4	24	1	0	0	0	0	1	0	0	0	12563	1000	35	3	813	3	PROS1	3	93605266	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	46730829	93605266	104417164	21	1643											
CPOX	1371	genome.wustl.edu	37	chr3	98299571	98299571	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgtagaacttccagaatttCagcttctttggaattctctg	8	9	3	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:98299571C>T	ENST00000264193.2	-	7	1539	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	441					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCCAGAATTTCAGCTTCTTTG	0.473																																					Esophageal Squamous(75;7 1223 22300 43648 48951)												0								ENSG00000080819						89	79	82					3																	98299571		2203	4300	6503	CPOX	SO:0001583	missense	0			-	HGNC	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1321G>A	3.37:g.98299571C>T	ENSP00000264193:p.Glu441Lys	Somatic	0	53	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.09	A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	30	0	0	39	0.00	0	pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer	p.E441K	ENST00000264193.2	37	c.1321	CCDS2932.1	3	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935623	0.52972	.	.	ENSG00000080819	ENST00000264193	D	0.92805	-3.11	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	N	0.25789	0.76	0.80722	D	1	P	0.34934	0.476	B	0.41619	0.361	D	0.84920	0.0853	10	0.25751	T	0.34	-19.1392	12.7156	0.57113	0.0:0.9198:0.0:0.0802	.	441	P36551	HEM6_HUMAN	K	441	ENSP00000264193:E441K	ENSP00000264193:E441K	E	-	1	0	CPOX	99782261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.593000	0.67550	1.395000	0.46643	0.655000	0.94253	GAA	-	pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer		0.473	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPOX	protein_coding	OTTHUMT00000358900.1	C	NM_000097	-		98299571	-1	no_errors	ENST00000264193	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98299571	C	T	98299571	3	4	24	1	0	0	0	0	1	0	0	0	3823	835	29	2	47	2	CPOX	3	98299571	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	4694305	98299571	99722859	22	1644											
EPHB1	2047	genome.wustl.edu	37	chr3	134884887	134884887	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtcgtgttcgttgtgTccttggtggccatctctatc	13	11	1	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:134884887T>G	ENST00000398015.3	+	8	2033	c.1663T>G	c.(1663-1665)Tcc>Gcc	p.S555A	EPHB1_ENST00000493838.1_Missense_Mutation_p.S116A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	555					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)			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						GTTCGTTGTGTCCTTGGTGGC	0.577																																																	0								ENSG00000154928						131	148	142					3																	134884887		2137	4257	6394	EPHB1	SO:0001583	missense	0			-	HGNC	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.1663T>G	3.37:g.134884887T>G	ENSP00000381097:p.Ser555Ala	Somatic	0	140	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	38	0	0	22	31.25	10	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S555A	ENST00000398015.3	37	c.1663	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	T	8.691	0.907336	0.17833	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.09350	2.99;2.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	N	0.00483	-1.445	0.80722	D	1	B	0.25563	0.129	B	0.24006	0.05	T	0.49688	-0.8913	10	0.09843	T	0.71	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	555	P54762	EPHB1_HUMAN	A	555;116	ENSP00000381097:S555A;ENSP00000419574:S116A	ENSP00000381097:S555A	S	+	1	0	EPHB1	136367577	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.273000	0.51623	2.326000	0.78906	0.533000	0.62120	TCC	-	pirsf_Tyr_kinase_ephrin_rcpt		0.577	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	protein_coding	OTTHUMT00000357671.1	T	NM_004441	-		134884887	1	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	SNP	1.000	G	G	134884887	T	G	134884887	3	3	24	1	0	0	0	0	1	0	0	0	5176	1667	58	5	1693	5	EPHB1	3	134884887	Missense_Mutation	SNP	T	TCGA-DX-A1L0-01A-11D-A24N-09	36585316	134884887	63137543	23	1645											
CRYGS	1427	genome.wustl.edu	37	chr3	186256495	186256495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatgtcattactccacaAtgcggcggaaagactggaca	9	10	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:186256495A>G	ENST00000392499.2	-	4	866	c.527T>C	c.(526-528)aTt>aCt	p.I176T	CRYGS_ENST00000307944.5_Missense_Mutation_p.I176T	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	176	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TTACTCCACAATGCGGCGGAA	0.547																																																	0								ENSG00000213139						67	64	65					3																	186256495		2203	4300	6503	CRYGS	SO:0001583	missense	0			-	HGNC		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"crystallin, gamma 8"	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.527T>C	3.37:g.186256495A>G	ENSP00000376287:p.Ile176Thr	Somatic	0	76	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	B2RAF8	Missense_Mutation	SNP	34	0	0	22	38.89	14	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.I176T	ENST00000392499.2	37	c.527	CCDS3275.1	3	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578847	0.65878	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.79454	-1.27;-1.27	5.76	5.76	0.90799	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.287414	0.28146	U	0.016425	D	0.88923	0.6569	M	0.90198	3.095	0.43084	D	0.994749	P	0.50443	0.935	D	0.64042	0.921	D	0.90759	0.4663	10	0.66056	D	0.02	.	12.4499	0.55671	1.0:0.0:0.0:0.0	.	176	P22914	CRBS_HUMAN	T	176	ENSP00000376287:I176T;ENSP00000312099:I176T	ENSP00000312099:I176T	I	-	2	0	CRYGS	187739189	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.548000	0.90669	2.196000	0.70406	0.460000	0.39030	ATT	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.547	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGS	protein_coding	OTTHUMT00000344784.1	A	NM_017541	-		186256495	-1	no_errors	ENST00000307944	ensembl	human	known	74_37	missense	SNP	1.000	G	G	186256495	A	G	186256495	3	3	24	1	0	0	0	0	1	0	0	0	3921	101	4	5	13	5	CRYGS	3	186256495	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	51371608	186256495	11765935	24	1646											
RTP2	344892	genome.wustl.edu	37	chr3	187416376	187416376	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcaccagcgaagagacaaGaagttgtagccggatcccgc	13	11	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr3:187416376G>C	ENST00000358241.1	-	2	1016	c.588C>G	c.(586-588)ttC>ttG	p.F196L		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	196					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAAGAGACAAGAAGTTGTAGC	0.582																																																	0								ENSG00000198471						84	90	88					3																	187416376		2203	4300	6503	RTP2	SO:0001583	missense	0			-	HGNC	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.588C>G	3.37:g.187416376G>C	ENSP00000350976:p.Phe196Leu	Somatic	0	77	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	30	49.15	Q6NVH4	Missense_Mutation	SNP	27	3.57	1	22	29.03	9	NULL	p.F196L	ENST00000358241.1	37	c.588	CCDS33911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611789	0.46631	.	.	ENSG00000198471	ENST00000358241	T	0.14144	2.53	3.93	3.06	0.35304	.	0.000000	0.64402	D	0.000002	T	0.21267	0.0512	L	0.36672	1.1	0.31569	N	0.656542	D	0.71674	0.998	D	0.72625	0.978	T	0.05131	-1.0904	10	0.31617	T	0.26	-41.1132	7.6559	0.28375	0.1145:0.0:0.8855:0.0	.	196	Q5QGT7	RTP2_HUMAN	L	196	ENSP00000350976:F196L	ENSP00000350976:F196L	F	-	3	2	RTP2	188899070	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	2.943000	0.49026	1.256000	0.44068	0.462000	0.41574	TTC	-	NULL		0.582	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	protein_coding	OTTHUMT00000344259.1	G	NM_001004312	-		187416376	-1	no_errors	ENST00000358241	ensembl	human	known	74_37	missense	SNP	1.000	C	C	187416376	G	C	187416376	3	2	24	1	0	0	0	0	1	0	0	0	13742	933	33	4	93	4	RTP2	3	187416376	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	1159881	187416376	10606054	25	1647											
PROM1	8842	genome.wustl.edu	37	chr4	16014945	16014945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactctgtcaggtatatcaTtaagggattgatagccctga	10	7	3	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr4:16014945T>C	ENST00000510224.1	-	11	1342	c.1094A>G	c.(1093-1095)aAt>aGt	p.N365S	PROM1_ENST00000447510.2_Missense_Mutation_p.N365S|PROM1_ENST00000508167.1_Missense_Mutation_p.N356S|PROM1_ENST00000505450.1_Missense_Mutation_p.N356S|PROM1_ENST00000539194.1_Missense_Mutation_p.N365S|PROM1_ENST00000540805.1_Missense_Mutation_p.N365S|PROM1_ENST00000543373.1_Missense_Mutation_p.N356S			O43490	PROM1_HUMAN	prominin 1	365					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGGTATATCATTAAGGGATTG	0.388																																																	0								ENSG00000007062						150	144	146					4																	16014945		1872	4117	5989	PROM1	SO:0001583	missense	0			-	HGNC	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1094A>G	4.37:g.16014945T>C	ENSP00000426809:p.Asn365Ser	Somatic	0	37	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	38	0	0	27	30.77	12	pfam_Prominin	p.N365S	ENST00000510224.1	37	c.1094	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698641	0.48307	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.03	3.83	0.44106	.	0.156359	0.56097	N	0.000023	T	0.38427	0.1040	L	0.43923	1.385	0.30319	N	0.787775	P;P;P;P;B;P	0.44429	0.835;0.835;0.739;0.835;0.264;0.624	P;P;B;P;B;B	0.45856	0.495;0.495;0.343;0.495;0.033;0.395	T	0.30679	-0.9970	10	0.30854	T	0.27	-25.1068	10.1948	0.43047	0.0:0.0:0.1677:0.8323	.	356;365;356;365;356;365	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	S	365;365;365;356;356;365;356	ENSP00000415481:N365S;ENSP00000438045:N365S;ENSP00000443620:N365S;ENSP00000426090:N356S;ENSP00000427346:N356S;ENSP00000426809:N365S;ENSP00000445526:N356S	ENSP00000415481:N365S	N	-	2	0	PROM1	15624043	0.997000	0.39634	0.002000	0.10522	0.529000	0.34654	3.652000	0.54439	0.748000	0.32831	0.455000	0.32223	AAT	-	pfam_Prominin		0.388	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	protein_coding	OTTHUMT00000359595.2	T	NM_006017	-		16014945	-1	no_errors	ENST00000447510	ensembl	human	known	74_37	missense	SNP	0.999	C	C	16014945	T	C	16014945	3	2	24	1	0	0	0	0	1	0	0	0	12560	1493	52	5	1571	5	PROM1	4	16014945	Missense_Mutation	SNP	T	TCGA-DX-A1L0-01A-11D-A24N-09		16014945	175139331	26	1648											
ATOH1	474	genome.wustl.edu	37	chr4	94750585	94750585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaacgccagggagcggCgcaggatgcatgggctgaac	16	12	0	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr4:94750585C>T	ENST00000306011.3	+	1	544	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	170	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGGGAGCGGCGCAGGATGCA	0.597																																																	0								ENSG00000172238						48	49	48					4																	94750585		2203	4300	6503	ATOH1	SO:0001583	missense	0			-	HGNC	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.508C>T	4.37:g.94750585C>T	ENSP00000302216:p.Arg170Cys	Somatic	0	85	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	52	17.46	Q14CT9	Missense_Mutation	SNP	29	0	0	37	21.28	10	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R170C	ENST00000306011.3	37	c.508	CCDS3638.1	4	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137497	0.37728	.	.	ENSG00000172238	ENST00000306011	D	0.98493	-4.96	4.41	3.48	0.39840	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98083	0.9368	M	0.85197	2.74	0.58432	D	0.999999	D	0.55800	0.973	P	0.54060	0.741	D	0.97700	1.0184	10	0.87932	D	0	-16.0569	6.9789	0.24692	0.2652:0.6404:0.0:0.0944	.	170	Q92858	ATOH1_HUMAN	C	170	ENSP00000302216:R170C	ENSP00000302216:R170C	R	+	1	0	ATOH1	94969608	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	0.860000	0.27871	2.291000	0.77112	0.549000	0.68633	CGC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.597	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	protein_coding	OTTHUMT00000253585.1	C	NM_005172	-		94750585	1	no_errors	ENST00000306011	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94750585	C	T	94750585	3	4	24	1	0	0	0	0	1	0	0	0	1112	768	27	1	510	1	ATOH1	4	94750585	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	78735640	94750585	96403691	27	1649											
FAT1	2195	genome.wustl.edu	37	chr4	187518235	187518235	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccctgtactcgtggctGcagttgcagtgataggagcc	13	12	0	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr4:187518235G>T	ENST00000441802.2	-	25	12668	c.12459C>A	c.(12457-12459)tgC>tgA	p.C4153*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4153	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						ACTCGTGGCTGCAGTTGCAGT	0.582										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						63	65	64					4																	187518235		2108	4234	6342	FAT1	SO:0001587	stop_gained	0			-	HGNC	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.12459C>A	4.37:g.187518235G>T	ENSP00000406229:p.Cys4153*	Somatic	0	50	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Nonsense_Mutation	SNP	26	0	0	45	0.00	0	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.C4153*	ENST00000441802.2	37	c.12459	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	54	22.174340	0.99946	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000507105	.	.	.	4.86	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5741	0.56354	0.1384:0.0:0.8616:0.0	.	.	.	.	X	4153;4155;85	.	ENSP00000260147:C4155X	C	-	3	2	FAT1	187755229	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.571000	0.53841	2.541000	0.85698	0.561000	0.74099	TGC	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.582	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187518235	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	187518235	G	T	187518235	4	4	24	1	0	0	0	0	0	1	0	0	5691	1311	46	3	1319	3	FAT1	4	187518235	Nonsense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	92767650	187518235	3636041	28	1650											
DNAH5	1767	genome.wustl.edu	37	chr5	13727719	13727719	+	Frame_Shift_Del	DEL	T	T	-													gaagaggttcctcctccgggTtttccttatcaaaccaaatt							TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr5:13727719delT	ENST00000265104.4	-	70	12034	c.11930delA	c.(11929-11931)aacfs	p.N3977fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3977					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)					CTCCTCCGGGTTTTCCTTATC	0.413									Kartagener syndrome																																								0								ENSG00000039139						102	104	103					5																	13727719		2203	4300	6503	DNAH5	SO:0001589	frameshift_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		HGNC	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.11930delA	5.37:g.13727719delT	ENSP00000265104:p.Asn3977fs	Somatic	0	58	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	30	48.28	Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	21	0	0	47	31.88	22	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N3977fs	ENST00000265104.4	37	c.11930	CCDS3882.1	5																																																																																			-	pfam_Dynein_heavy_dom		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	T	NM_001369			13727719	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	13727719	T	-	13727719	7	5	24	1	0	1	0	1	0	0	0	0	4606	1725	60	0	1984	0	DNAH5	5	13727719	Frame_Shift_Del	DEL	T	TCGA-DX-A1L0-01A-11D-A24N-09		13727719	167187541	29	1651			1	9		3	3	48	N	T_C	1.039481e-08
DNAH5	1767	genome.wustl.edu	37	chr5	13727742	13727742	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttatcaaaccaaattttCcacattttctcatttctcga	1	12	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr5:13727742C>T	ENST00000265104.4	-	70	12011	c.11907G>A	c.(11905-11907)tgG>tgA	p.W3969*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3969					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)					ACCAAATTTTCCACATTTTCT	0.383									Kartagener syndrome																																								0								ENSG00000039139						95	96	96					5																	13727742		2203	4300	6503	DNAH5	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.11907G>A	5.37:g.13727742C>T	ENSP00000265104:p.Trp3969*	Somatic	0	52	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	24	56.36	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	25	0	0	38	40.62	26	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.W3969*	ENST00000265104.4	37	c.11907	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	54	22.354201	0.99947	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3861	0.94556	0.0:1.0:0.0:0.0	.	.	.	.	X	3969	.	ENSP00000265104:W3969X	W	-	3	0	DNAH5	13780742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.594000	0.87642	0.650000	0.86243	TGG	-	pfam_Dynein_heavy_dom		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	C	NM_001369	-		13727742	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	13727742	C	T	13727742	4	4	24	1	0	0	0	0	0	1	0	0	4606	856	30	2	2007	2	DNAH5	5	13727742	Nonsense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	23	13727742	167187518	30	1652			1	9		3	3	48	N	T_C	1.039481e-08
DNAH5	1767	genome.wustl.edu	37	chr5	13727766	13727766	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttctcatttctcgatatCtgaaaataccatgggataaa	5	7	3	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr5:13727766C>A	ENST00000265104.4	-	70	11988		c.e70-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					TTCTCGATATCTGAAAATACC	0.388									Kartagener syndrome																																								0								ENSG00000039139						81	82	82					5																	13727766		2203	4300	6503	DNAH5	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.11884-1G>T	5.37:g.13727766C>A		Somatic	0	52	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	21	59.62	Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	28	0	0	41	39.71	27	-	e70-1	ENST00000265104.4	37	c.11884-1	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280047	0.80692	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3861	0.94556	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13780766	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.135000	0.77276	2.594000	0.87642	0.650000	0.86243	.	-	-		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	C	NM_001369	-	Intron	13727766	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	13727766	C	A	13727766	5	1	24	1	0	0	0	0	0	0	1	0	4606	927	32	3	2031	3	DNAH5	5	13727766	Splice_Site	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	24	13727766	167187494	31	1653			1	9		3	3	48	N	T_C	1.039481e-08
PRLR	5618	genome.wustl.edu	37	chr5	35066042	35066042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggatccaggtatgtggGtttcataccttgacttgggt	13	7	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr5:35066042G>T	ENST00000382002.5	-	10	1444	c.1018C>A	c.(1018-1020)Ccc>Acc	p.P340T	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P239T|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P239T	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	340					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGGTATGTGGGTTTCATACCT	0.498																																																	0								ENSG00000113494						93	90	91					5																	35066042		2203	4300	6503	PRLR	SO:0001583	missense	0			-	HGNC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1018C>A	5.37:g.35066042G>T	ENSP00000371432:p.Pro340Thr	Somatic	0	84	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	124	29.14	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	23	0	0	87	28.69	35	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P340T	ENST00000382002.5	37	c.1018	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	G	4.238	0.043114	0.08196	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.73681	-0.77;-0.77;-0.77	5.46	4.59	0.56863	.	0.374240	0.34435	N	0.003972	T	0.70798	0.3265	M	0.73217	2.22	0.22001	N	0.999428	B;P	0.38473	0.235;0.633	B;B	0.43360	0.18;0.417	T	0.62334	-0.6876	10	0.27785	T	0.31	-5.3467	2.722	0.05203	0.1582:0.1353:0.548:0.1585	.	340;239	P16471;P16471-2	PRLR_HUMAN;.	T	239;340;239	ENSP00000339213:P239T;ENSP00000371432:P340T;ENSP00000422556:P239T	ENSP00000339213:P239T	P	-	1	0	PRLR	35101799	0.992000	0.36948	0.118000	0.21660	0.619000	0.37552	1.733000	0.38156	1.298000	0.44778	0.655000	0.94253	CCC	-	NULL		0.498	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	protein_coding	OTTHUMT00000207575.2	G		-		35066042	-1	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	SNP	0.864	T	T	35066042	G	T	35066042	3	4	24	1	0	0	0	0	1	0	0	0	12536	1261	44	3	854	3	PRLR	5	35066042	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	21338276	35066042	145849218	32	1654											
SV2C	22987	genome.wustl.edu	37	chr5	75621242	75621242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggcagcagccgtcctggGaaacttaatatttggctctc	10	11	1	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr5:75621242G>A	ENST00000502798.2	+	13	2496	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	685					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCCGTCCTGGGAAACTTAATA	0.512																																																	0								ENSG00000122012						120	115	116					5																	75621242		1988	4167	6155	SV2C	SO:0001583	missense	0			-	HGNC	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.2054G>A	5.37:g.75621242G>A	ENSP00000423541:p.Gly685Glu	Somatic	0	54	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	Q496K1|Q9UPU8	Missense_Mutation	SNP	36	0	0	29	32.56	14	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.G685E	ENST00000502798.2	37	c.2054	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861940	0.91433	.	.	ENSG00000122012	ENST00000502798	T	0.70986	-0.53	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85801	0.5781	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87035	0.2137	10	0.87932	D	0	-15.537	19.6758	0.95932	0.0:0.0:1.0:0.0	.	685	Q496J9	SV2C_HUMAN	E	685	ENSP00000423541:G685E	ENSP00000423541:G685E	G	+	2	0	SV2C	75656998	1.000000	0.71417	0.895000	0.35142	0.736000	0.42039	9.837000	0.99465	2.644000	0.89710	0.561000	0.74099	GGA	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.512	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	protein_coding	OTTHUMT00000368700.4	G		-		75621242	1	no_errors	ENST00000502798	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75621242	G	A	75621242	3	1	24	1	0	0	0	0	1	0	0	0	15426	1174	41	2	2100	2	SV2C	5	75621242	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	40555200	75621242	105294018	33	1655											
OR5V1	81696	genome.wustl.edu	37	chr6	29323624	29323624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacgatcatatgccattgCtgccagtaggagacactctg	10	10	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr6:29323624C>T	ENST00000377154.1	-	4	648	c.349G>A	c.(349-351)Gca>Aca	p.A117T	OR5V1_ENST00000543825.1_Missense_Mutation_p.A117T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATGCCATTGCTGCCAGTAGG	0.413																																					Ovarian(32;43 883 21137 32120 42650)												0								ENSG00000243729						67	68	68					6																	29323624		2203	4299	6502	OR5V1	SO:0001583	missense	0			-	HGNC		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.349G>A	6.37:g.29323624C>T	ENSP00000366359:p.Ala117Thr	Somatic	0	41	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	5	81.48	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	53	0	0	7	84.78	39	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A117T	ENST00000377154.1	37	c.349	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761457	0.49468	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01369	4.97;4.97	4.37	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32719	N	0.005724	T	0.00845	0.0028	L	0.56199	1.76	0.09310	N	1	P	0.50156	0.932	P	0.47573	0.55	T	0.52697	-0.8541	10	0.45353	T	0.12	-32.6884	5.676	0.17749	0.4433:0.4356:0.0:0.1211	.	117	Q9UGF6	OR5V1_HUMAN	T	117	ENSP00000366359:A117T;ENSP00000443309:A117T	ENSP00000366356:A117T	A	-	1	0	OR5V1	29431603	0.000000	0.05858	0.987000	0.45799	0.791000	0.44710	-0.080000	0.11339	0.542000	0.28846	0.543000	0.68304	GCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	protein_coding	OTTHUMT00000076398.3	C		-		29323624	-1	no_errors	ENST00000377154	ensembl	human	known	74_37	missense	SNP	0.002	T	T	29323624	C	T	29323624	3	4	24	1	0	0	0	0	1	0	0	0	11186	797	28	2	619	2	OR5V1	6	29323624	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		29323624	141791443	34	1656											
LRRN3	54674	genome.wustl.edu	37	chr7	110762970	110762970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacacccagatccatttatAtggaagcatctacagtggat	7	9	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr7:110762970A>G	ENST00000422987.3	+	2	973	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.M48V|LRRN3_ENST00000308478.5_Missense_Mutation_p.M48V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	48	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATCCATTTATATGGAAGCATC	0.393																																																	0								ENSG00000173114						150	138	142					7																	110762970		2203	4300	6503	LRRN3	SO:0001583	missense	0			-	HGNC	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.142A>G	7.37:g.110762970A>G	ENSP00000412417:p.Met48Val	Somatic	0	46	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	39	31.58	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	35	0	0	40	32.20	19	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.M48V	ENST00000422987.3	37	c.142	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	8.913	0.959243	0.18507	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.98	5.98	0.97165	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.15262	0.0368	N	0.17474	0.49	0.38648	D	0.951767	B	0.14438	0.01	B	0.15052	0.012	T	0.11299	-1.0593	10	0.25106	T	0.35	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	48	Q9H3W5	LRRN3_HUMAN	V	48	ENSP00000312001:M48V;ENSP00000397312:M48V;ENSP00000412417:M48V;ENSP00000407927:M48V	ENSP00000312001:M48V	M	+	1	0	LRRN3	110550206	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.139000	0.64801	2.288000	0.76882	0.528000	0.53228	ATG	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.393	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	protein_coding	OTTHUMT00000338171.2	A	NM_018334	-		110762970	1	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	SNP	1.000	G	G	110762970	A	G	110762970	3	3	24	1	0	0	0	0	1	0	0	0	9038	449	16	5	144	5	LRRN3	7	110762970	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09		110762970	48375693	35	1657											
AKR1B10	57016	genome.wustl.edu	37	chr7	134215401	134215401	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttttgcctttcagtctcctCttggcaaagtgaaagaagca	8	10	3	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr7:134215401C>G	ENST00000359579.4	+	2	393	c.73C>G	c.(73-75)Ctt>Gtt	p.L25V	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	25					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TCAGTCTCCTCTTGGCAAAGT	0.488																																																	0								ENSG00000198074						78	80	79					7																	134215401		2203	4300	6503	AKR1B10	SO:0001583	missense	0			-	HGNC	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"Aldo-keto reductases"	382	protein-coding gene	gene with protein product	"aldose reductase-like 1", "aldo-keto reductase family 1, member B11 (aldose reductase-like)", "aldose reductase-like peptide", "aldose reductase-related protein", "small intestine reductase"	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.73C>G	7.37:g.134215401C>G	ENSP00000352584:p.Leu25Val	Somatic	0	73	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	33	0	0	29	38.30	18	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L25V	ENST00000359579.4	37	c.73	CCDS5832.1	7	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349396	0.24426	.	.	ENSG00000198074	ENST00000359579	T	0.16743	2.32	4.55	3.67	0.42095	NADP-dependent oxidoreductase domain (3);	0.237933	0.42964	D	0.000627	T	0.11580	0.0282	N	0.16201	0.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23868	-1.0176	10	0.72032	D	0.01	.	14.0869	0.64962	0.0:0.8481:0.1519:0.0	.	25	O60218	AK1BA_HUMAN	V	25	ENSP00000352584:L25V	ENSP00000352584:L25V	L	+	1	0	AKR1B10	133865941	0.010000	0.17322	0.001000	0.08648	0.046000	0.14306	1.707000	0.37888	1.043000	0.40175	-0.462000	0.05337	CTT	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.488	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B10	protein_coding	OTTHUMT00000339615.1	C	NM_020299	-		134215401	1	no_errors	ENST00000359579	ensembl	human	known	74_37	missense	SNP	0.192	G	G	134215401	C	G	134215401	3	3	24	1	0	0	0	0	1	0	0	0	467	913	32	4	79	4	AKR1B10	7	134215401	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	23452431	134215401	24923262	36	1658											
NCAPG2	54892	genome.wustl.edu	37	chr7	158457328	158457328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcaccagacctcctccgGctgattcacaggcaggaaag	10	15	1	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr7:158457328G>A	ENST00000409423.1	-	15	1766	c.1594C>T	c.(1594-1596)Ccg>Tcg	p.P532S	NCAPG2_ENST00000541468.1_Missense_Mutation_p.P33S|NCAPG2_ENST00000275830.10_Missense_Mutation_p.P324S|NCAPG2_ENST00000409339.3_Missense_Mutation_p.P532S|NCAPG2_ENST00000356309.3_Missense_Mutation_p.P532S|NCAPG2_ENST00000449727.2_Missense_Mutation_p.P532S	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	532					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCTCCTCCGGCTGATTCACA	0.577																																																	0								ENSG00000146918						85	91	89					7																	158457328		2136	4256	6392	NCAPG2	SO:0001583	missense	0			-	HGNC	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1594C>T	7.37:g.158457328G>A	ENSP00000386569:p.Pro532Ser	Somatic	0	42	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	21	0	0	39	2.50	1	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.P532S	ENST00000409423.1	37	c.1594	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720629	0.68959	.	.	ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727	T;T;T;T;T;T	0.30714	1.6;1.52;1.52;1.61;1.52;1.52	5.71	4.83	0.62350	Armadillo-type fold (1);	0.101523	0.64402	D	0.000001	T	0.29423	0.0733	N	0.14661	0.345	0.45318	D	0.998313	P;D;D;P	0.65815	0.791;0.979;0.995;0.687	B;P;P;B	0.55112	0.332;0.556;0.769;0.178	T	0.04565	-1.0942	10	0.11485	T	0.65	-22.739	16.5083	0.84278	0.0:0.0:0.8681:0.1319	.	532;33;324;532	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2	.;.;.;CNDG2_HUMAN	S	33;532;532;324;532;33;532	ENSP00000442337:P33S;ENSP00000348657:P532S;ENSP00000386569:P532S;ENSP00000275830:P324S;ENSP00000387007:P532S;ENSP00000388326:P532S	ENSP00000275830:P324S	P	-	1	0	NCAPG2	158150089	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	2.847000	0.48270	1.536000	0.49237	0.655000	0.94253	CCG	-	superfamily_ARM-type_fold		0.577	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	protein_coding	OTTHUMT00000327111.1	G	NM_017760	-		158457328	-1	no_errors	ENST00000409339	ensembl	human	known	74_37	missense	SNP	1.000	A	A	158457328	G	A	158457328	3	1	24	1	0	0	0	0	1	0	0	0	10210	1203	42	2	1897	2	NCAPG2	7	158457328	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	24241927	158457328	681335	37	1659											
CSMD1	64478	genome.wustl.edu	37	chr8	3245123	3245123	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctgaaagtcactgtggacCtgatgccaaagtctccaccg	10	12	2	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr8:3245123C>G	ENST00000520002.1	-	19	3233	c.2678G>C	c.(2677-2679)aGg>aCg	p.R893T	CSMD1_ENST00000602723.1_Missense_Mutation_p.R893T|CSMD1_ENST00000400186.3_Missense_Mutation_p.R893T|CSMD1_ENST00000539096.1_Missense_Mutation_p.R892T|CSMD1_ENST00000602557.1_Missense_Mutation_p.R893T|CSMD1_ENST00000542608.1_Missense_Mutation_p.R892T|CSMD1_ENST00000537824.1_Missense_Mutation_p.R892T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	893	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		CACTGTGGACCTGATGCCAAA	0.597																																																	0								ENSG00000183117						46	53	51					8																	3245123		2117	4227	6344	CSMD1	SO:0001583	missense	0			-	HGNC			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.2678G>C	8.37:g.3245123C>G	ENSP00000430733:p.Arg893Thr	Somatic	0	54	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	18	0	0	48	17.24	10	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R893T	ENST00000520002.1	37	c.2678		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.440181|1.440181	0.25900|0.25900	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13;-0.13	5.11|5.11	3.28|3.28	0.37604|0.37604	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.326661	.|0.27961	.|N	.|0.017151	T|T	0.63022|0.63022	0.2476|0.2476	N|N	0.17345|0.17345	0.48|0.48	0.21604|0.21604	N|N	0.999627|0.999627	.|D;B;B	.|0.71674	.|0.998;0.146;0.115	.|D;B;B	.|0.79784	.|0.993;0.139;0.082	T|T	0.56019|0.56019	-0.8048|-0.8048	5|10	.|0.72032	.|D	.|0.01	.|.	11.1668|11.1668	0.48547|0.48547	0.0:0.849:0.0:0.151|0.0:0.849:0.0:0.151	.|.	.|893;893;893	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	H|T	372|893;893;755;892;892;892	.|ENSP00000383047:R893T;ENSP00000430733:R893T;ENSP00000441462:R892T;ENSP00000446243:R892T;ENSP00000441675:R892T	.|ENSP00000320445:R755T	Q|R	-|-	3|2	2|0	CSMD1|CSMD1	3232530|3232530	0.125000|0.125000	0.22332|0.22332	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	3.930000|3.930000	0.56522|0.56522	1.137000|1.137000	0.42214|0.42214	0.650000|0.650000	0.86243|0.86243	CAG|AGG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		3245123	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.353	G	G	3245123	C	G	3245123	3	3	24	1	0	0	0	0	1	0	0	0	3946	681	24	4	8231	4	CSMD1	8	3245123	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		3245123	143118899	38	1660											
PRKDC	5591	genome.wustl.edu	37	chr8	48733396	48733396	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctctagaatcgccttctGgagctccccgtgcatagctt	9	13	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr8:48733396G>A	ENST00000314191.2	-	67	9273	c.9217C>T	c.(9217-9219)Cag>Tag	p.Q3073*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3073*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3074	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCGCCTTCTGGAGCTCCCCG	0.478								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						62	61	61					8																	48733396		1917	4138	6055	PRKDC	SO:0001587	stop_gained	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9217C>T	8.37:g.48733396G>A	ENSP00000313420:p.Gln3073*	Somatic	0	84	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	30	0	0	39	35.00	21	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3073*	ENST00000314191.2	37	c.9217		8	.	.	.	.	.	.	.	.	.	.	G	48	14.395709	0.99793	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.16	5.16	0.70880	.	0.415723	0.24915	N	0.034581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	12.2549	0.54619	0.0:0.0:0.7148:0.2852	.	.	.	.	X	3073	.	ENSP00000313420:Q3073X	Q	-	1	0	PRKDC	48895949	1.000000	0.71417	0.269000	0.24586	0.020000	0.10135	5.597000	0.67577	2.548000	0.85928	0.650000	0.86243	CAG	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.478	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		G	NM_001081640	-		48733396	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	48733396	G	A	48733396	4	1	24	1	0	0	0	0	0	1	0	0	12526	1357	47	2	3250	2	PRKDC	8	48733396	Nonsense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	45488273	48733396	97630626	39	1661											
RP1	6101	genome.wustl.edu	37	chr8	55541922	55541922	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catgcctcatggtagtgactCagaaccttttcatgaggact	9	10	3	3			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr8:55541922C>G	ENST00000220676.1	+	4	5628	c.5480C>G	c.(5479-5481)tCa>tGa	p.S1827*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1827					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)			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)			GGTAGTGACTCAGAACCTTTT	0.443																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						81	75	77					8																	55541922		2203	4300	6503	RP1	SO:0001587	stop_gained	0			-	HGNC	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.5480C>G	8.37:g.55541922C>G	ENSP00000220676:p.Ser1827*	Somatic	0	32	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58		Nonsense_Mutation	SNP	23	0	0	36	23.40	11	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S1827*	ENST00000220676.1	37	c.5480	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	44	11.043106	0.99507	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.83	4.95	0.65309	.	0.156606	0.30455	N	0.009600	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.3418	0.66633	0.0:0.9295:0.0:0.0705	.	.	.	.	X	1827	.	ENSP00000220676:S1827X	S	+	2	0	RP1	55704475	1.000000	0.71417	0.953000	0.39169	0.624000	0.37722	5.772000	0.68889	2.756000	0.94617	0.655000	0.94253	TCA	-	NULL		0.443	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	C	NM_006269	-		55541922	1	no_errors	ENST00000220676	ensembl	human	known	74_37	nonsense	SNP	0.993	G	G	55541922	C	G	55541922	4	3	24	1	0	0	0	0	0	1	0	0	13540	838	29	4	5490	4	RP1	8	55541922	Nonsense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	6808526	55541922	90822100	40	1662											
OXR1	55074	genome.wustl.edu	37	chr8	107718618	107718618	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttaatgacagagatatagAtcagctatcaggaagggact	11	5	2	3			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr8:107718618A>T	ENST00000442977.2	+	8	971	c.872A>T	c.(871-873)gAt>gTt	p.D291V	OXR1_ENST00000445937.1_Missense_Mutation_p.D290V|OXR1_ENST00000497705.1_Missense_Mutation_p.D223V|OXR1_ENST00000531443.1_Missense_Mutation_p.D290V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.D290V|OXR1_ENST00000312046.6_Missense_Mutation_p.D283V	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	291					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAGATATAGATCAGCTATCA	0.328																																																	0								ENSG00000164830						53	55	55					8																	107718618		2203	4298	6501	OXR1	SO:0001583	missense	0			-	HGNC	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.872A>T	8.37:g.107718618A>T	ENSP00000405424:p.Asp291Val	Somatic	0	28	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	37	0	0	22	46.34	19	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.D291V	ENST00000442977.2	37	c.872	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.45|16.45	3.125772|3.125772	0.56721|0.56721	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.28666|.	2.49;2.49;2.48;2.48;1.6;2.45|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.479994|.	0.22344|.	N|.	0.061290|.	T|T	0.63803|0.63803	0.2542|0.2542	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;D;P|.	0.56521|.	0.817;0.868;0.976;0.817|.	P;B;P;P|.	0.54100|.	0.636;0.432;0.742;0.636|.	T|T	0.63161|0.63161	-0.6699|-0.6699	10|5	0.52906|.	T|.	0.07|.	-25.6691|-25.6691	10.9084|10.9084	0.47094|0.47094	0.9305:0.0:0.0695:0.0|0.9305:0.0:0.0695:0.0	.|.	283;291;223;290|.	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	V|F	290;290;290;291;223;283|4	ENSP00000402918:D290V;ENSP00000431966:D290V;ENSP00000429205:D290V;ENSP00000405424:D291V;ENSP00000431014:D223V;ENSP00000311026:D283V|.	ENSP00000311026:D283V|.	D|I	+|+	2|1	0|0	OXR1|OXR1	107787794|107787794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	5.908000|5.908000	0.69916|0.69916	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	GAT|ATC	-	NULL		0.328	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	protein_coding		A	NM_181354	-		107718618	1	no_errors	ENST00000442977	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107718618	A	T	107718618	3	4	24	1	0	0	0	0	1	0	0	0	11336	333	12	5	1102	5	OXR1	8	107718618	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	52176696	107718618	38645404	41	1663											
GSDMC	56169	genome.wustl.edu	37	chr8	130760915	130760915	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcactctggagtggggcGaggagctcaggtttgagggt	17	9	3	1	rs373227533		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr8:130760915G>A	ENST00000276708.4	-	14	2240	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	453						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGAGTGGGGCGAGGAGCTCAG	0.542																																																	0								ENSG00000147697						83	82	82					8																	130760915		2203	4300	6503	GSDMC	SO:0001819	synonymous_variant	0			-	HGNC	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1359C>T	8.37:g.130760915G>A		Somatic	0	52	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	16	55.56	Q5XKF3|Q6P494	Silent	SNP	27	0	0	22	58.49	31	pfam_Gasdermin	p.L453	ENST00000276708.4	37	c.1359	CCDS6360.1	8																																																																																			-	pfam_Gasdermin		0.542	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	protein_coding	OTTHUMT00000380586.1	G		-		130760915	-1	no_errors	ENST00000276708	ensembl	human	known	74_37	silent	SNP	0.000	A	A	130760915	G	A	130760915	2	1	24	1	0	0	0	0	0	0	0	1	6820	1045	37	1		1	GSDMC	8	130760915	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	23042297	130760915	15603107	42	1664											
FAM49B	51571	genome.wustl.edu	37	chr8	130866557	130866557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgttcttctataataGctgaaatcattctgtatggc	6	8	5	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr8:130866557G>T	ENST00000519824.2	-	7	744	c.471C>A	c.(469-471)agC>agA	p.S157R	FAM49B_ENST00000519110.1_Missense_Mutation_p.S157R|FAM49B_ENST00000522941.1_Missense_Mutation_p.S11R|FAM49B_ENST00000401979.2_Missense_Mutation_p.S157R|FAM49B_ENST00000519540.1_Missense_Mutation_p.S157R|FAM49B_ENST00000517654.1_Missense_Mutation_p.S157R|FAM49B_ENST00000522746.1_Missense_Mutation_p.S157R|FAM49B_ENST00000522250.1_Missense_Mutation_p.S11R|FAM49B_ENST00000518879.1_5'Flank|FAM49B_ENST00000523509.1_Missense_Mutation_p.S157R	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	157						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTCTATAATAGCTGAAATCAT	0.338																																																	0								ENSG00000153310						138	122	128					8																	130866557		2203	4299	6502	FAM49B	SO:0001583	missense	0			-	HGNC	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.471C>A	8.37:g.130866557G>T	ENSP00000429150:p.Ser157Arg	Somatic	0	57	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	36	0	0	64	0.00	0	pfam_DUF1394	p.S157R	ENST00000519824.2	37	c.471	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915538	0.73098	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.8	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76302	-0.3009	10	0.87932	D	0	-12.123	8.8962	0.35465	0.231:0.0:0.769:0.0	.	157	Q9NUQ9	FA49B_HUMAN	R	157;157;157;157;11;157;157;157;11;111	ENSP00000428117:S157R;ENSP00000429802:S157R;ENSP00000384880:S157R;ENSP00000429078:S157R;ENSP00000429978:S11R;ENSP00000429150:S157R;ENSP00000430674:S157R;ENSP00000429499:S157R;ENSP00000430433:S11R	ENSP00000311651:S111R	S	-	3	2	FAM49B	130935739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.792000	0.47837	0.787000	0.33731	0.491000	0.48974	AGC	-	pfam_DUF1394		0.338	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	protein_coding	OTTHUMT00000380390.2	G	NM_016623	-		130866557	-1	no_errors	ENST00000401979	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130866557	G	T	130866557	3	4	24	1	0	0	0	0	1	0	0	0	5578	962	34	3	527	3	FAM49B	8	130866557	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	105642	130866557	15497465	43	1665											
DOCK8	81704	genome.wustl.edu	37	chr9	396912	396912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctcggaaattgcagCccttttagtaaaaccacaga	8	11	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr9:396912C>A	ENST00000453981.1	+	25	3210	c.3098C>A	c.(3097-3099)gCc>gAc	p.A1033D	DOCK8_ENST00000382329.1_Missense_Mutation_p.A500D|DOCK8_ENST00000469391.1_Missense_Mutation_p.A933D|DOCK8_ENST00000432829.2_Missense_Mutation_p.A965D|DOCK8_ENST00000382331.1_Missense_Mutation_p.A335D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1033					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)		GAAATTGCAGCCCTTTTAGTA	0.353																																																	0								ENSG00000107099						125	122	123					9																	396912		2203	4300	6503	DOCK8	SO:0001583	missense	0			-	HGNC	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	ENST00000453981.1:c.3098C>A	9.37:g.396912C>A	ENSP00000408464:p.Ala1033Asp	Somatic	0	56	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	39.71	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	33	0	0	52	48.51	49	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.A1033D	ENST00000453981.1	37	c.3098	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260531	0.59431	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.7	5.7	0.88788	.	0.202236	0.52532	D	0.000067	T	0.34716	0.0907	L	0.44542	1.39	0.49483	D	0.999798	D;B;B;B	0.54207	0.965;0.241;0.116;0.241	P;B;B;B	0.52481	0.7;0.101;0.065;0.065	T	0.01587	-1.1318	10	0.13853	T	0.58	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	335;933;500;1033	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	D	1033;1001;965;933;335;500	ENSP00000408464:A1033D;ENSP00000394888:A965D;ENSP00000419438:A933D;ENSP00000371768:A335D;ENSP00000371766:A500D	ENSP00000287364:A1001D	A	+	2	0	DOCK8	386912	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	5.747000	0.68689	2.683000	0.91414	0.655000	0.94253	GCC	-	NULL		0.353	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	C	XM_036307	-		396912	1	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	396912	C	A	396912	3	1	24	1	0	0	0	0	1	0	0	0	4695	739	26	3	3196	3	DOCK8	9	396912	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		396912	140816519	44	1666											
SLC44A1	23446	genome.wustl.edu	37	chr9	108123581	108123581	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaatcttcgggccctcctCatttatgccatttcagctac	6	14	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr9:108123581C>T	ENST00000374720.3	+	8	1117	c.870C>T	c.(868-870)ctC>ctT	p.L290L	SLC44A1_ENST00000374724.1_Silent_p.L290L|SLC44A1_ENST00000343170.7_Silent_p.L82L|SLC44A1_ENST00000374723.1_Silent_p.L290L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	290					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGGCCCTCCTCATTTATGCCA	0.443																																																	0								ENSG00000070214						144	139	140					9																	108123581		2203	4300	6503	SLC44A1	SO:0001819	synonymous_variant	0			-	HGNC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.870C>T	9.37:g.108123581C>T		Somatic	1	189	0.53		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	136	21.71	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	26	0	0	34	20.93	9	pfam_Choline_transptr-like	p.L290	ENST00000374720.3	37	c.870	CCDS6763.1	9																																																																																			-	NULL		0.443	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	protein_coding	OTTHUMT00000053500.1	C	NM_080546	-		108123581	1	no_errors	ENST00000374720	ensembl	human	known	74_37	silent	SNP	1.000	T	T	108123581	C	T	108123581	2	4	24	1	0	0	0	0	0	0	0	1	14643	813	29	2		2	SLC44A1	9	108123581	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	107726669	108123581	33089850	45	1667											
BAT2L1	84726	genome.wustl.edu	37	chr9	134349905	134349905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtgctcagcgcgatctcTttgaggagagaggggaggag	17	6	2	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr9:134349905T>G	ENST00000357304.4	+	15	2444	c.2389T>G	c.(2389-2391)Ttt>Gtt	p.F797V	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	797							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCGCGATCTCTTTGAGGAGAG	0.488																																																	0								ENSG00000130723						97	100	99					9																	134349905		1898	4118	6016	PRRC2B	SO:0001583	missense	0			-	HGNC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2389T>G	9.37:g.134349905T>G	ENSP00000349856:p.Phe797Val	Somatic	0	70	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	52	35.00	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	25	0	0	37	31.48	17	pfam_BAT2_N	p.F797V	ENST00000357304.4	37	c.2389	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128755	0.37533	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.09350	2.99;2.99	5.46	1.88	0.25563	.	.	.	.	.	T	0.06462	0.0166	N	0.24115	0.695	0.80722	D	1	B;B	0.22683	0.073;0.018	B;B	0.25291	0.059;0.025	T	0.33828	-0.9853	9	0.15499	T	0.54	.	7.2327	0.26051	0.0:0.3261:0.0:0.6739	.	93;797	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	V	797;93;66	ENSP00000349856:F797V;ENSP00000400608:F66V	ENSP00000349856:F797V	F	+	1	0	PRRC2B	133339726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.810000	0.47979	0.437000	0.26423	0.533000	0.62120	TTT	-	NULL		0.488	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		T		-		134349905	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	SNP	1.000	G	G	134349905	T	G	134349905	3	3	24	1	0	0	0	0	1	0	0	0	1320	1609	56	5	2447	5	BAT2L1	9	134349905	Missense_Mutation	SNP	T	TCGA-DX-A1L0-01A-11D-A24N-09	26226324	134349905	6863526	46	1668											
CUBN	8029	genome.wustl.edu	37	chr10	16870803	16870803	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgtttgttttactcaCgcctccgcagtatggtccag	8	10	1	0	rs374982220		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr10:16870803C>A	ENST00000377833.4	-	66	10830		c.e66+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						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)			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)	GTTTTACTCACGCCTCCGCAG	0.408											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000107611						80	80	80					10																	16870803		2203	4300	6503	CUBN	SO:0001630	splice_region_variant	0			-	HGNC	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.10764+1G>T	10.37:g.16870803C>A		Somatic	0	49	0	713	0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	15	57.14	B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	32	0	0	22	60.71	34	-	e66+1	ENST00000377833.4	37	c.10764+1	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289546	0.40494	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8831	0.88846	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	16910809	1.000000	0.71417	0.960000	0.40013	0.015000	0.08874	7.569000	0.82380	2.664000	0.90586	0.561000	0.74099	.	-	-		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	C	NM_001081	-	Intron	16870803	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	16870803	C	A	16870803	5	1	24	1	0	0	0	0	0	0	1	0	4053	550	19	3	114	3	CUBN	10	16870803	Splice_Site	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		16870803	118663944	47	1669											
CCDC6	8030	genome.wustl.edu	37	chr10	61665973	61665973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctatcttcagcaccttGttctcttgctgcagcgaggc	9	13	4	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr10:61665973G>T	ENST00000263102.6	-	1	441	c.210C>A	c.(208-210)aaC>aaA	p.N70K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	70						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGCACCTTGTTCTCTTGCT	0.632			T	RET	NSCLC																																			Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0								ENSG00000108091						114	115	114					10																	61665973		2203	4300	6503	CCDC6	SO:0001583	missense	0			-	HGNC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.210C>A	10.37:g.61665973G>T	ENSP00000263102:p.Asn70Lys	Somatic	0	76	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q15250|Q6GSG7	Missense_Mutation	SNP	26	0	0	30	0.00	0	pfam_DUF2046	p.N70K	ENST00000263102.6	37	c.210	CCDS7257.1	10	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594127	0.66219	.	.	ENSG00000108091	ENST00000263102	T	0.79352	-1.26	4.51	4.51	0.55191	.	0.046500	0.85682	D	0.000000	T	0.79753	0.4500	L	0.46885	1.475	0.80722	D	1	D	0.54964	0.969	P	0.54210	0.745	T	0.78061	-0.2351	10	0.31617	T	0.26	-15.5879	15.9647	0.79961	0.0:0.0:1.0:0.0	.	70	Q16204	CCDC6_HUMAN	K	70	ENSP00000263102:N70K	ENSP00000263102:N70K	N	-	3	2	CCDC6	61335979	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.554000	0.45845	2.328000	0.79073	0.563000	0.77884	AAC	-	pfam_DUF2046		0.632	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC6	protein_coding	OTTHUMT00000048176.2	G	NM_005436	-		61665973	-1	no_errors	ENST00000263102	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61665973	G	T	61665973	3	4	24	1	0	0	0	0	1	0	0	0	2832	1368	48	3	1250	3	CCDC6	10	61665973	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	44795170	61665973	73868774	48	1670											
DUPD1	338599	genome.wustl.edu	37	chr10	76797662	76797662	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctctgctgcaccagctGcttgtccagctcccggagct	10	17	1	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr10:76797662G>A	ENST00000338487.5	-	3	594	c.595C>T	c.(595-597)Cag>Tag	p.Q199*		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	199	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCACCAGCTGCTTGTCCAGC	0.652																																																	0								ENSG00000188716						60	60	60					10																	76797662		2203	4300	6503	DUPD1	SO:0001587	stop_gained	0			-	HGNC		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.595C>T	10.37:g.76797662G>A	ENSP00000340609:p.Gln199*	Somatic	0	83	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	B2RP93	Nonsense_Mutation	SNP	28	0	0	23	34.29	12	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.Q199*	ENST00000338487.5	37	c.595	CCDS31223.1	10	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985259	0.53934	.	.	ENSG00000188716	ENST00000338487	.	.	.	4.97	4.06	0.47325	.	0.386495	0.29273	N	0.012634	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-24.9479	10.4934	0.44764	0.0:0.2824:0.5871:0.1305	.	.	.	.	X	199	.	ENSP00000340609:Q199X	Q	-	1	0	DUPD1	76467668	0.759000	0.28416	1.000000	0.80357	0.989000	0.77384	1.119000	0.31258	1.312000	0.45043	0.555000	0.69702	CAG	-	smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.652	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUPD1	protein_coding	OTTHUMT00000048777.2	G	XM_291741	-		76797662	-1	no_errors	ENST00000338487	ensembl	human	known	74_37	nonsense	SNP	0.869	A	A	76797662	G	A	76797662	4	1	24	1	0	0	0	0	0	1	0	0	4806	1328	46	2	71	2	DUPD1	10	76797662	Nonsense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	15131689	76797662	58737085	49	1671											
TDRD1	56165	genome.wustl.edu	37	chr10	115964595	115964595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgctccataaagattgtcGacatcttggaagaggaagtg	11	7	1	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr10:115964595G>A	ENST00000369280.1	+	10	1700	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	TDRD1_ENST00000369281.2_Missense_Mutation_p.D414N|TDRD1_ENST00000251864.2_Missense_Mutation_p.D414N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D414N|TDRD1_ENST00000422662.1_Missense_Mutation_p.D75N			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	414					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGATTGTCGACATCTTGGA	0.393																																																	0								ENSG00000095627						137	120	126					10																	115964595		2203	4300	6503	TDRD1	SO:0001583	missense	0			-	HGNC	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1240G>A	10.37:g.115964595G>A	ENSP00000358286:p.Asp414Asn	Somatic	0	58	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	39	0	0	30	30.23	13	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.D414N	ENST00000369280.1	37	c.1240		10	.	.	.	.	.	.	.	.	.	.	G	7.668	0.686356	0.14973	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.24350	2.97;2.95;2.08;1.86;2.98	6.03	2.22	0.28083	.	0.388867	0.27139	N	0.020759	T	0.17492	0.0420	L	0.35854	1.095	0.21184	N	0.999765	B;B;B;B;B	0.33171	0.4;0.1;0.005;0.161;0.052	B;B;B;B;B	0.30029	0.11;0.012;0.002;0.027;0.019	T	0.10894	-1.0610	10	0.44086	T	0.13	-7.149	8.5407	0.33390	0.3688:0.0:0.6312:0.0	.	75;414;414;414;414	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	N	414;414;414;75;414	ENSP00000358288:D414N;ENSP00000251864:D414N;ENSP00000358287:D414N;ENSP00000402794:D75N;ENSP00000358286:D414N	ENSP00000251864:D414N	D	+	1	0	TDRD1	115954585	0.331000	0.24713	0.082000	0.20525	0.018000	0.09664	1.102000	0.31050	0.163000	0.19507	-0.126000	0.14955	GAC	-	NULL		0.393	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	protein_coding	OTTHUMT00000050457.2	G		-		115964595	1	no_errors	ENST00000251864	ensembl	human	known	74_37	missense	SNP	0.138	A	A	115964595	G	A	115964595	3	1	24	1	0	0	0	0	1	0	0	0	15737	1058	37	1	1274	1	TDRD1	10	115964595	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	39166933	115964595	19570152	50	1672											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236296	118236296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaataagttgggagcagaAatggtgataaatacatctgg	12	4	1	3			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr10:118236296A>T	ENST00000369230.3	+	11	1451	c.1305A>T	c.(1303-1305)gaA>gaT	p.E435D		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	435	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGGGAGCAGAAATGGTGATAA	0.308																																																	0								ENSG00000203837						93	98	96					10																	118236296		2203	4300	6503	PNLIPRP3	SO:0001583	missense	0			-	HGNC	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1305A>T	10.37:g.118236296A>T	ENSP00000358232:p.Glu435Asp	Somatic	0	57	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38		Missense_Mutation	SNP	52	0	0	63	7.35	5	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.E435D	ENST00000369230.3	37	c.1305	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204757	0.38905	.	.	ENSG00000203837	ENST00000369230	T	0.66280	-0.2	4.07	0.271	0.15640	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.954246	0.08564	N	0.927180	T	0.47655	0.1457	L	0.43923	1.385	0.21675	N	0.999599	B	0.19583	0.037	B	0.15870	0.014	T	0.40961	-0.9535	10	0.48119	T	0.1	.	1.6508	0.02771	0.552:0.177:0.1:0.1709	.	435	Q17RR3	LIPR3_HUMAN	D	435	ENSP00000358232:E435D	ENSP00000358232:E435D	E	+	3	2	PNLIPRP3	118226286	0.988000	0.35896	0.993000	0.49108	0.926000	0.56050	0.922000	0.28734	0.165000	0.19558	0.533000	0.62120	GAA	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.308	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	protein_coding	OTTHUMT00000050520.1	A	XM_058404	-		118236296	1	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	SNP	0.997	T	T	118236296	A	T	118236296	3	4	24	1	0	0	0	0	1	0	0	0	12154	11	1	5	1347	5	PNLIPRP3	10	118236296	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	2271701	118236296	17298451	51	1673											
ZNF215	7762	genome.wustl.edu	37	chr11	6953570	6953570	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtctctacgtgaacaaagaGaggttctgagagcagatatg	12	6	2	4			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:6953570G>C	ENST00000278319.5	+	3	655	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	ZNF215_ENST00000414517.2_Missense_Mutation_p.E23Q|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.E23Q	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	23					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGAACAAAGAGAGGTTCTGAG	0.463																																																	0								ENSG00000149054						88	91	90					11																	6953570		2201	4296	6497	ZNF215	SO:0001583	missense	0			-	HGNC	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.67G>C	11.37:g.6953570G>C	ENSP00000278319:p.Glu23Gln	Somatic	0	33	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q96C84	Missense_Mutation	SNP	33	0	0	45	6.25	3	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E23Q	ENST00000278319.5	37	c.67	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675414	0.29783	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.05855	3.38;3.38;5.92	4.15	3.24	0.37175	.	0.200899	0.24604	N	0.037115	T	0.06188	0.0160	L	0.29908	0.895	0.22317	N	0.999203	P;B;B	0.45348	0.856;0.025;0.141	B;B;B	0.43623	0.425;0.021;0.033	T	0.30880	-0.9963	10	0.37606	T	0.19	-9.0217	10.2497	0.43362	0.0:0.2008:0.7992:0.0	.	23;23;23	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	Q	23	ENSP00000278319:E23Q;ENSP00000393202:E23Q;ENSP00000432306:E23Q	ENSP00000278319:E23Q	E	+	1	0	ZNF215	6910146	0.956000	0.32656	0.915000	0.36163	0.002000	0.02628	0.616000	0.24344	1.330000	0.45394	-0.121000	0.15023	GAG	-	NULL		0.463	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	protein_coding	OTTHUMT00000384550.1	G		-		6953570	1	no_errors	ENST00000278319	ensembl	human	known	74_37	missense	SNP	0.946	C	C	6953570	G	C	6953570	3	2	24	1	0	0	0	0	1	0	0	0	17778	943	33	4	69	4	ZNF215	11	6953570	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		6953570	128052946	52	1674											
OR4A15	81328	genome.wustl.edu	37	chr11	55135991	55135991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgtgtgatttgtatcCcttattgaaacttgcttgca	7	9	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:55135991C>T	ENST00000314706.3	+	1	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211						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(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413																																																	0								ENSG00000181958						138	128	131					11																	55135991		2201	4293	6494	OR4A15	SO:0001583	missense	0			-	HGNC	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.632C>T	11.37:g.55135991C>T	ENSP00000325065:p.Pro211Leu	Somatic	0	205	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	83	35.66	Q6IFL4|Q96R65	Missense_Mutation	SNP	33	0	0	19	34.48	10	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P211L	ENST00000314706.3	37	c.632	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	-	10.03	1.239170	0.22711	.	.	ENSG00000181958	ENST00000314706	T	0.00224	8.51	3.65	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.00468	0.0015	M	0.80028	2.48	0.09310	N	0.999999	D	0.67145	0.996	D	0.71414	0.973	T	0.36480	-0.9746	10	0.87932	D	0	.	8.7222	0.34447	0.0:0.8837:0.0:0.1163	.	211	Q8NGL6	O4A15_HUMAN	L	211	ENSP00000325065:P211L	ENSP00000325065:P211L	P	+	2	0	OR4A15	54892567	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	0.086000	0.14935	0.742000	0.32697	0.492000	0.49549	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	protein_coding	OTTHUMT00000391161.1	C	NM_001005275	-		55135991	1	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	SNP	0.008	T	T	55135991	C	T	55135991	3	4	24	1	0	0	0	0	1	0	0	0	11042	623	22	2	634	2	OR4A15	11	55135991	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	48182421	55135991	79870525	53	1675											
MEN1	4221	genome.wustl.edu	37	chr11	64573228	64573228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagatctcctcgtcttccCggcagtagttgtagctgtga	11	10	2	2	rs386134246		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:64573228C>T	ENST00000337652.1	-	8	1582	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000315422.4_Missense_Mutation_p.R355Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R355Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R360Q|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377321.1_Missense_Mutation_p.R320Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R360Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R360Q|MEN1_ENST00000377326.3_Missense_Mutation_p.R355Q|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.R355Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R360Q|MEN1_ENST00000478548.1_5'UTR	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	360	Interaction with FANCD2.		R -> W (in MEN1). {ECO:0000269|PubMed:15714081}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R355L(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCGTCTTCCCGGCAGTAGTT	0.607			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Substitution - Missense(1)	lung(1)						ENSG00000133895						115	116	115					11																	64573228		2201	4297	6498	MEN1	SO:0001583	missense	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	-	HGNC	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1079G>A	11.37:g.64573228C>T	ENSP00000337088:p.Arg360Gln	Somatic	0	72	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	39	0	0	27	0.00	0	pfam_Menin	p.R360Q	ENST00000337652.1	37	c.1079	CCDS8083.1	11	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755419	0.89843	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	3.72	3.72	0.42706	.	0.000000	0.64402	D	0.000001	D	0.99498	0.9821	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.72982	0.929;0.979;0.958	D	0.97749	1.0213	10	0.87932	D	0	-10.3817	13.4651	0.61249	0.0:1.0:0.0:0.0	.	355;320;360	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	Q	355;320;355;355;355;360;360;360;360;360	ENSP00000366533:R355Q;ENSP00000366538:R320Q;ENSP00000366543:R355Q;ENSP00000308975:R355Q;ENSP00000323747:R355Q;ENSP00000337088:R360Q;ENSP00000377901:R360Q;ENSP00000377899:R360Q;ENSP00000396940:R360Q;ENSP00000366530:R360Q	ENSP00000308975:R355Q	R	-	2	0	MEN1	64329804	0.998000	0.40836	0.950000	0.38849	0.985000	0.73830	3.961000	0.56759	2.122000	0.65172	0.456000	0.33151	CGG	-	pfam_Menin		0.607	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	protein_coding	OTTHUMT00000143881.1	C		-		64573228	-1	no_errors	ENST00000337652	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64573228	C	T	64573228	3	4	24	1	0	0	0	0	1	0	0	0	9474	652	23	1	780	1	MEN1	11	64573228	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	9437237	64573228	70433288	54	1676											
FAM55D	54827	genome.wustl.edu	37	chr11	114453019	114453019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatttttacctttcaaagAggctcttttcttgtttgcta	5	7	3	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:114453019A>G	ENST00000375478.3	-	3	1001	c.821T>C	c.(820-822)cTc>cCc	p.L274P	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	274						extracellular vesicular exosome (GO:0070062)											CCTTTCAAAGAGGCTCTTTTC	0.363																																																	0								ENSG00000137634						75	71	72					11																	114453019		1857	4102	5959	NXPE4	SO:0001583	missense	0			-	HGNC	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.821T>C	11.37:g.114453019A>G	ENSP00000364627:p.Leu274Pro	Somatic	0	109	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	33	0	0	34	2.86	1	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.L274P	ENST00000375478.3	37	c.821	CCDS41718.1	11	.	.	.	.	.	.	.	.	.	.	A	19.59	3.857096	0.71834	.	.	ENSG00000137634	ENST00000375478	T	0.17854	2.25	5.25	5.25	0.73442	.	0.285942	0.26220	N	0.025640	T	0.43656	0.1257	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.39840	-0.9594	10	0.51188	T	0.08	.	13.4358	0.61084	1.0:0.0:0.0:0.0	.	274	Q6UWF7	FA55D_HUMAN	P	274	ENSP00000364627:L274P	ENSP00000364627:L274P	L	-	2	0	FAM55D	113958229	1.000000	0.71417	0.884000	0.34674	0.985000	0.73830	6.208000	0.72165	2.105000	0.64084	0.533000	0.62120	CTC	-	NULL		0.363	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NXPE4	protein_coding	OTTHUMT00000399179.1	A	NM_017678	-		114453019	-1	no_errors	ENST00000375478	ensembl	human	known	74_37	missense	SNP	0.994	G	G	114453019	A	G	114453019	3	3	24	1	0	0	0	0	1	0	0	0	5589	304	11	5	829	5	FAM55D	11	114453019	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	49879791	114453019	20553497	55	1677											
FAM55B	120406	genome.wustl.edu	37	chr11	114550437	114550437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactgctgatgttgacatttAtcttaattttctggatcatt	6	6	3	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:114550437A>T	ENST00000389586.4	+	2	275	c.85A>T	c.(85-87)Atc>Ttc	p.I29F	NXPE2_ENST00000375475.5_Missense_Mutation_p.I29F	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	29						integral component of membrane (GO:0016021)											GTTGACATTTATCTTAATTTT	0.333																																																	0								ENSG00000204361						186	144	157					11																	114550437		692	1590	2282	NXPE2	SO:0001583	missense	0			-	HGNC	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.85A>T	11.37:g.114550437A>T	ENSP00000374237:p.Ile29Phe	Somatic	0	60	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	12	55.56	Q2NKI8	Missense_Mutation	SNP	24	0	0	10	54.55	12	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.I29F	ENST00000389586.4	37	c.85	CCDS44738.1	11	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202068	0.38905	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.21191	2.56;2.02	4.1	-5.41	0.02648	.	1.197790	0.06241	N	0.690402	T	0.14442	0.0349	L	0.52573	1.65	0.09310	N	1	B	0.22276	0.067	B	0.12837	0.008	T	0.41233	-0.9520	10	0.72032	D	0.01	.	0.6038	0.00749	0.2442:0.1509:0.3095:0.2955	.	29	Q96DL1	FA55B_HUMAN	F	29	ENSP00000374237:I29F;ENSP00000364624:I29F	ENSP00000364624:I29F	I	+	1	0	FAM55B	114055647	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.996000	0.03709	-0.725000	0.04901	0.397000	0.26171	ATC	-	NULL		0.333	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NXPE2	protein_coding	OTTHUMT00000399181.1	A	NM_182495	-		114550437	1	no_errors	ENST00000389586	ensembl	human	known	74_37	missense	SNP	0.000	T	T	114550437	A	T	114550437	3	4	24	1	0	0	0	0	1	0	0	0	5587	449	16	5	91	5	FAM55B	11	114550437	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	97418	114550437	20456079	56	1678											
OR10G8	219869	genome.wustl.edu	37	chr11	123900382	123900382	+	Missense_Mutation	SNP	C	C	T													cctcatgggccttccccatgCcccagcgctggacgcccccc					rs73028928	byFrequency	TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:123900382C>T	ENST00000431524.1	+	1	86	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	18						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTCCCCATGCCCCAGCGCTG	0.572																																																	0								ENSG00000234560						180	171	174					11																	123900382		2201	4299	6500	OR10G8	SO:0001583	missense	0			-	HGNC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.53C>T	11.37:g.123900382C>T	ENSP00000389072:p.Ala18Val	Somatic	0	128	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	59	11.94	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	28	0	0	23	0.00	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A18V	ENST00000431524.1	37	c.53	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326961	0.24080	.	.	ENSG00000234560	ENST00000431524	T	0.01099	5.34	2.95	2.95	0.34219	.	0.922077	0.09000	N	0.863091	T	0.00784	0.0026	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46555	-0.9183	10	0.39692	T	0.17	.	4.9369	0.13944	0.0:0.7325:0.0:0.2675	.	18	Q8NGN5	O10G8_HUMAN	V	18	ENSP00000389072:A18V	ENSP00000389072:A18V	A	+	2	0	OR10G8	123405592	0.000000	0.05858	0.047000	0.18901	0.004000	0.04260	-1.793000	0.01755	1.634000	0.50500	0.585000	0.79938	GCC	-	NULL		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	C	NM_001004464	rs73028928		123900382	1	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	SNP	0.014	T	T	123900382	C	T	123900382	3	4	24	1	0	0	0	0	1	0	0	0	10905	739	26	2	55	2	OR10G8	11	123900382	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	9349945	123900382	11106134	57	1679	21	2	2	10		3	2	30	N	G_C	8.992795e-05
OR10G8	219869	genome.wustl.edu	37	chr11	123900385	123900385	+	Missense_Mutation	SNP	C	C	A													catgggccttccccatgcccCagcgctggacgcccccctct					rs149524303	byFrequency	TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:123900385C>A	ENST00000431524.1	+	1	89	c.56C>A	c.(55-57)cCa>cAa	p.P19Q		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	19						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCCCATGCCCCAGCGCTGGAC	0.567																																																	0								ENSG00000234560																																			OR10G8	SO:0001583	missense	0			-	HGNC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.56C>A	11.37:g.123900385C>A	ENSP00000389072:p.Pro19Gln	Somatic	0	134	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	29	0	0	23	0.00	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P19Q	ENST00000431524.1	37	c.56	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342383	0.24339	.	.	ENSG00000234560	ENST00000431524	T	0.00428	7.44	2.95	2.95	0.34219	.	0.136796	0.33670	N	0.004664	T	0.00384	0.0012	M	0.64170	1.965	0.25608	N	0.986521	B	0.12630	0.006	B	0.15870	0.014	T	0.37798	-0.9690	10	0.32370	T	0.25	.	8.8035	0.34923	0.2255:0.7745:0.0:0.0	.	19	Q8NGN5	O10G8_HUMAN	Q	19	ENSP00000389072:P19Q	ENSP00000389072:P19Q	P	+	2	0	OR10G8	123405595	0.001000	0.12720	0.073000	0.20177	0.007000	0.05969	1.082000	0.30803	1.634000	0.50500	0.585000	0.79938	CCA	-	NULL		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	C	NM_001004464	rs149524303		123900385	1	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	SNP	0.575	A	A	123900385	C	A	123900385	3	1	24	1	0	0	0	0	1	0	0	0	10905	594	21	3	58	3	OR10G8	11	123900385	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	3	123900385	11106131	58	1680	21	2	2	10		3	2	30	N	G_C	8.992795e-05
OR10G8	219869	genome.wustl.edu	37	chr11	123900411	123900411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgcccccctctttggaGtcttcctggtggtttacgtg	12	12	2	0	rs202220125	byFrequency	TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:123900411G>A	ENST00000431524.1	+	1	115	c.82G>A	c.(82-84)Gtc>Atc	p.V28I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	28						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTCTTTGGAGTCTTCCTGGT	0.572													G|||	7	0.00139776	0	0.0043	5008	,	,		19799	0		0.001	False		,,,				2504	0.0031																0								ENSG00000234560						195	177	183					11																	123900411		2201	4299	6500	OR10G8	SO:0001583	missense	0			-	HGNC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.82G>A	11.37:g.123900411G>A	ENSP00000389072:p.Val28Ile	Somatic	0	126	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	70	12.50	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	26	0	0	21	0.00	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V28I	ENST00000431524.1	37	c.82	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	G	4.296	0.054107	0.08291	.	.	ENSG00000234560	ENST00000431524	T	0.02916	4.11	2.95	-4.35	0.03656	.	0.824866	0.10366	N	0.683403	T	0.01254	0.0041	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48258	-0.9051	10	0.10377	T	0.69	.	1.3401	0.02153	0.2804:0.2787:0.3033:0.1376	.	28	Q8NGN5	O10G8_HUMAN	I	28	ENSP00000389072:V28I	ENSP00000389072:V28I	V	+	1	0	OR10G8	123405621	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-3.513000	0.00446	-1.037000	0.03283	-0.324000	0.08512	GTC	-	prints_GPCR_Rhodpsn		0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	G	NM_001004464	rs202220125		123900411	1	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	SNP	0.000	A	A	123900411	G	A	123900411	3	1	24	1	0	0	0	0	1	0	0	0	10905	1029	36	2	84	2	OR10G8	11	123900411	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	26	123900411	11106105	59	1681			2	10		3	2	30	N	G_C	8.992795e-05
EI24	9538	genome.wustl.edu	37	chr11	125452254	125452254	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttaaacagtggctgccttttCtctatcctctttcctttatt	4	11	2	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:125452254C>G	ENST00000278903.6	+	10	1040	c.798C>G	c.(796-798)ttC>ttG	p.F266L	EI24_ENST00000343678.4_Missense_Mutation_p.S229C|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	266					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GCTGCCTTTTCTCTATCCTCT	0.343																																																	0								ENSG00000149547						25	23	24					11																	125452254		1811	4058	5869	EI24	SO:0001583	missense	0			-	HGNC	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.798C>G	11.37:g.125452254C>G	ENSP00000278903:p.Phe266Leu	Somatic	0	159	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	121	14.00	A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	21	0	0	38	6.98	3	NULL	p.F266L	ENST00000278903.6	37	c.798		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.95|15.95	2.983812|2.983812	0.53827|0.53827	.|.	.|.	ENSG00000149547|ENSG00000149547	ENST00000278903|ENST00000343678	.|.	.|.	.|.	5.52|5.52	3.56|3.56	0.40772|0.40772	.|.	0.097541|.	0.64402|.	D|.	0.000001|.	T|T	0.47377|0.47377	0.1442|0.1442	M|M	0.63843|0.63843	1.955|1.955	0.09310|0.09310	N|N	0.99999|0.99999	P;P|D	0.38827|0.56287	0.649;0.649|0.975	B;B|P	0.36335|0.50896	0.222;0.14|0.653	T|T	0.31166|0.31166	-0.9953|-0.9953	9|8	0.52906|0.45353	T|T	0.07|0.12	.|.	7.9953|7.9953	0.30265|0.30265	0.0:0.7164:0.0:0.2836|0.0:0.7164:0.0:0.2836	.|.	252;266|229	B4DKL6;O14681|A6NES3	.;EI24_HUMAN|.	L|C	266|229	.|.	ENSP00000278903:F266L|ENSP00000364081:S229C	F|S	+|+	3|2	2|0	EI24|EI24	124957464|124957464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.293000|1.293000	0.33353|0.33353	0.618000|0.618000	0.30179|0.30179	0.650000|0.650000	0.86243|0.86243	TTC|TCT	-	NULL		0.343	EI24-201	KNOWN	basic|appris_principal	protein_coding	EI24	protein_coding		C	NM_004879	-		125452254	1	no_errors	ENST00000278903	ensembl	human	known	74_37	missense	SNP	1.000	G	G	125452254	C	G	125452254	3	3	24	1	0	0	0	0	1	0	0	0	4987	913	32	4	832	4	EI24	11	125452254	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	1551843	125452254	9554262	60	1682											
ETS1	2113	genome.wustl.edu	37	chr11	128354952	128354952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaacacactgggcatGctcaataccatagcctggaa	11	10	1	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr11:128354952G>T	ENST00000319397.6	-	5	805	c.496C>A	c.(496-498)Cat>Aat	p.H166N	ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.H166N|ETS1_ENST00000526145.2_Missense_Mutation_p.H166N|ETS1_ENST00000392668.4_Missense_Mutation_p.H210N|ETS1_ENST00000531611.1_Missense_Mutation_p.H166N	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	166	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CACTGGGCATGCTCAATACCA	0.488																																																	0								ENSG00000134954						144	132	136					11																	128354952		2201	4297	6498	ETS1	SO:0001583	missense	0			-	HGNC		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.496C>A	11.37:g.128354952G>T	ENSP00000324578:p.His166Asn	Somatic	0	50	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	29	0	0	24	0.00	0	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom	p.H210N	ENST00000319397.6	37	c.628	CCDS8475.1	11	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809960	0.31961	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.46451	3.06;2.74;0.87;2.75;3.06	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.44542	1.39	0.80722	D	1	D;B;P	0.53885	0.963;0.014;0.791	B;B;B	0.41236	0.344;0.008;0.351	T	0.35773	-0.9775	10	0.54805	T	0.06	.	20.0731	0.97731	0.0:0.0:1.0:0.0	.	166;166;210	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	N	166;210;166;166;166	ENSP00000340485:H166N;ENSP00000376436:H210N;ENSP00000435666:H166N;ENSP00000324578:H166N;ENSP00000433500:H166N	ENSP00000324578:H166N	H	-	1	0	ETS1	127860162	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	9.823000	0.99369	2.742000	0.94016	0.655000	0.94253	CAT	-	pirsf_Transform_prot_C-ets		0.488	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	protein_coding	OTTHUMT00000386269.2	G	NM_005238	-		128354952	-1	no_errors	ENST00000392668	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128354952	G	T	128354952	3	4	24	1	0	0	0	0	1	0	0	0	5277	1319	46	3	845	3	ETS1	11	128354952	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	2902698	128354952	6651564	61	1683											
ITPR2	3709	genome.wustl.edu	37	chr12	26780989	26780989	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggtagtaaagtgtctggaGatccactggcagatgtctcc	12	8	2	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:26780989G>A	ENST00000381340.3	-	23	3457	c.3041C>T	c.(3040-3042)tCt>tTt	p.S1014F	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1014					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTGTCTGGAGATCCACTGGC	0.353																																																	0								ENSG00000123104						248	237	240					12																	26780989		1858	4102	5960	ITPR2	SO:0001583	missense	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3041C>T	12.37:g.26780989G>A	ENSP00000370744:p.Ser1014Phe	Somatic	0	43	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	19	63.46	O94773	Missense_Mutation	SNP	33	0	0	47	59.83	70	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S1014F	ENST00000381340.3	37	c.3041	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732177	0.30684	.	.	ENSG00000123104	ENST00000381340	T	0.44881	0.91	4.55	4.55	0.56014	.	0.636814	0.16484	N	0.212409	T	0.29684	0.0741	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09400	-1.0676	10	0.54805	T	0.06	.	15.657	0.77144	0.0:0.0:1.0:0.0	.	1014	Q14571	ITPR2_HUMAN	F	1014	ENSP00000370744:S1014F	ENSP00000370744:S1014F	S	-	2	0	ITPR2	26672256	0.880000	0.30214	0.999000	0.59377	0.504000	0.33889	3.918000	0.56432	2.529000	0.85273	0.650000	0.86243	TCT	-	superfamily_ARM-type_fold		0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	G	NM_002223	-		26780989	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	SNP	0.916	A	A	26780989	G	A	26780989	3	1	24	1	0	0	0	0	1	0	0	0	7923	942	33	2	5204	2	ITPR2	12	26780989	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		26780989	107070906	62	1684			3	11		3	3	3946	G		7.420728e-05
ITPR2	3709	genome.wustl.edu	37	chr12	26784883	26784883	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcccttgcttgctcgggtgGatgctgggtggcacatccgg	15	12	0	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:26784883G>T	ENST00000381340.3	-	22	3266	c.2850C>A	c.(2848-2850)atC>atA	p.I950I	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	950					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGCTCGGGTGGATGCTGGGTG	0.547																																																	0								ENSG00000123104						139	147	144					12																	26784883		2107	4227	6334	ITPR2	SO:0001819	synonymous_variant	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2850C>A	12.37:g.26784883G>T		Somatic	0	93	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	49	60.32	O94773	Silent	SNP	27	0	0	39	48.00	36	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I950	ENST00000381340.3	37	c.2850	CCDS41764.1	12																																																																																			-	superfamily_ARM-type_fold		0.547	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	G	NM_002223	-		26784883	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	silent	SNP	0.001	T	T	26784883	G	T	26784883	2	4	24	1	0	0	0	0	0	0	0	1	7923	1164	41	3		3	ITPR2	12	26784883	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	3894	26784883	107067012	63	1685			3	11		3	3	3946	G		7.420728e-05
ITPR2	3709	genome.wustl.edu	37	chr12	26784934	26784934	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaagatggagcctctactGagtaccatctgggtcatcat	12	9	4	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:26784934G>T	ENST00000381340.3	-	22	3215	c.2799C>A	c.(2797-2799)ctC>ctA	p.L933L	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	933					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGCCTCTACTGAGTACCATCT	0.552																																																	0								ENSG00000123104						129	133	132					12																	26784934		2070	4216	6286	ITPR2	SO:0001819	synonymous_variant	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2799C>A	12.37:g.26784934G>T		Somatic	0	85	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	48	63.36	O94773	Silent	SNP	26	0	0	44	49.43	43	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.L933	ENST00000381340.3	37	c.2799	CCDS41764.1	12																																																																																			-	superfamily_ARM-type_fold		0.552	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	G	NM_002223	-		26784934	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	silent	SNP	0.988	T	T	26784934	G	T	26784934	2	4	24	1	0	0	0	0	0	0	0	1	7923	1277	45	3		3	ITPR2	12	26784934	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	51	26784934	107066961	64	1686			3	11		3	3	3946	G		7.420728e-05
PLEKHA9	51054	genome.wustl.edu	37	chr12	45567096	45567096	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctttacggttaacgcggcCacaaaatcttcataggatgg	9	10	2	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:45567096C>G	ENST00000256692.5	-	0	1589					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTAACGCGGCCACAAAATCTT	0.488																																																	0								ENSG00000134297						103	97	99					12																	45567096		2203	4300	6503	PLEKHA8P1			0			-	HGNC	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567096C>G		Somatic	1	103	0.96		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	62	25.30		RNA	SNP	21	0	0	35	23.40	11	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			-	-		0.488	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	pseudogene	OTTHUMT00000404814.1	C	NR_037144	-		45567096	-1	no_errors	ENST00000256692	ensembl	human	known	74_37	rna	SNP	0.994	G	G	45567096	C	G	45567096	1	3	24	0	1	0	0	0	0	0	0	0	12065	581	21	4		4	PLEKHA9	12	45567096	RNA	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	18782162	45567096	88284799	65	1687											
KCNH3	23416	genome.wustl.edu	37	chr12	49944060	49944060	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcaggccctctactttgtCtgctctggctccatggaggt	11	13	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:49944060C>G	ENST00000257981.6	+	10	2126	c.1866C>G	c.(1864-1866)gtC>gtG	p.V622V		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	622					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|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(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCTACTTTGTCTGCTCTGGCT	0.662																																																	0								ENSG00000135519						75	67	70					12																	49944060		2203	4300	6503	KCNH3	SO:0001819	synonymous_variant	0			-	HGNC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1866C>G	12.37:g.49944060C>G		Somatic	0	59	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	32	44.83	Q9UQ06	Silent	SNP	20	0	0	25	44.44	20	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.V622	ENST00000257981.6	37	c.1866	CCDS8786.1	12																																																																																			-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.662	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	protein_coding	OTTHUMT00000404571.2	C	NM_012284	-		49944060	1	no_errors	ENST00000257981	ensembl	human	known	74_37	silent	SNP	1.000	G	G	49944060	C	G	49944060	2	3	24	1	0	0	0	0	0	0	0	1	8035	900	32	4		4	KCNH3	12	49944060	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	4376964	49944060	83907835	66	1688											
OR10A7	121364	genome.wustl.edu	37	chr12	55615732	55615732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacaatcactcaaaaAgtcttacagaagttagatgt	8	6	3	3			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:55615732A>T	ENST00000326258.1	+	1	924	c.924A>T	c.(922-924)aaA>aaT	p.K308N		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCACTCAAAAAGTCTTACAGA	0.418																																																	0								ENSG00000179919						66	52	57					12																	55615732		2203	4299	6502	OR10A7	SO:0001583	missense	0			-	HGNC	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.924A>T	12.37:g.55615732A>T	ENSP00000326718:p.Lys308Asn	Somatic	0	18	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	Q6IFD5|Q96R19	Missense_Mutation	SNP	32	0	0	46	9.80	5	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K308N	ENST00000326258.1	37	c.924	CCDS31815.1	12	.	.	.	.	.	.	.	.	.	.	a	8.722	0.914690	0.17907	.	.	ENSG00000179919	ENST00000326258	T	0.39406	1.08	3.42	-1.61	0.08399	.	0.604609	0.13205	N	0.405623	T	0.22975	0.0555	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14839	-1.0458	10	0.28530	T	0.3	.	4.8147	0.13360	0.4449:0.1706:0.3845:0.0	.	308	Q8NGE5	O10A7_HUMAN	N	308	ENSP00000326718:K308N	ENSP00000326718:K308N	K	+	3	2	OR10A7	53901999	0.206000	0.23470	0.267000	0.24556	0.020000	0.10135	0.216000	0.17585	-0.171000	0.10797	-0.340000	0.08031	AAA	-	NULL		0.418	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	protein_coding	OTTHUMT00000406308.1	A		-		55615732	1	no_errors	ENST00000326258	ensembl	human	known	74_37	missense	SNP	0.002	T	T	55615732	A	T	55615732	3	4	24	1	0	0	0	0	1	0	0	0	10897	69	3	5	926	5	OR10A7	12	55615732	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	5671672	55615732	78236163	67	1689											
GRIP1	23426	genome.wustl.edu	37	chr12	66856716	66856716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctcaccatggtcgggccCctttagggccagccgggtct	12	15	2	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:66856716C>A	ENST00000398016.3	-	9	1098	c.1030G>T	c.(1030-1032)Ggg>Tgg	p.G344W	GRIP1_ENST00000359742.4_Missense_Mutation_p.G344W|GRIP1_ENST00000286445.7_Missense_Mutation_p.G344W	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)			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)		TGGTCGGGCCCCTTTAGGGCC	0.557																																																	0								ENSG00000155974						81	78	79					12																	66856716		1906	4133	6039	GRIP1	SO:0001583	missense	0			-	HGNC	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.1030G>T	12.37:g.66856716C>A	ENSP00000381098:p.Gly344Trp	Somatic	0	88	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	190	21.16	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	27	0	0	111	18.12	25	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G344W	ENST00000398016.3	37	c.1030	CCDS41807.1	12	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.14|17.14|17.14	3.312768|3.312768|3.312768	0.60414|0.60414|0.60414	.|.|.	.|.|.	ENSG00000155974|ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	.|T;T;T;T;T;T|.	.|0.21361|.	.|2.01;2.12;2.12;2.02;2.11;2.22|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|PDZ/DHR/GLGF (1);|.	0.048459|0.048459|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.70701|0.70701|0.70701	0.3254|0.3254|0.3254	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;D;D;D|.	.|0.71674|.	.|0.998;0.998;0.995;0.998|.	.|D;D;P;D|.	.|0.68765|.	.|0.96;0.944;0.879;0.948|.	T|T|T	0.66148|0.66148|0.66148	-0.5996|-0.5996|-0.5996	6|9|5	.|.|.	.|.|.	.|.|.	-15.9187|-15.9187|-15.9187	19.6542|19.6542|19.6542	0.95830|0.95830|0.95830	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|344;344;344;344|.	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.|.;GRIP1_HUMAN;.;.|.	V|W|S	164|344;344;344;344;288;288|158	.|ENSP00000381098:G344W;ENSP00000352780:G344W;ENSP00000286445:G344W;ENSP00000446047:G344W;ENSP00000446024:G288W;ENSP00000446011:G288W|.	.|.|.	G|G|R	-|-|-	2|1|3	0|0|2	GRIP1|GRIP1|GRIP1	65142983|65142983|65142983	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.475000|0.475000|0.475000	0.33008|0.33008|0.33008	7.654000|7.654000|7.654000	0.83653|0.83653|0.83653	2.816000|2.816000|2.816000	0.96949|0.96949|0.96949	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGG|GGG|AGG	-	superfamily_PDZ		0.557	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	C		-		66856716	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66856716	C	A	66856716	3	1	24	1	0	0	0	0	1	0	0	0	6789	623	22	3	2264	3	GRIP1	12	66856716	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	11240984	66856716	66995179	68	1690											
DYRK2	8445	genome.wustl.edu	37	chr12	68052027	68052027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctcacagaaactgctggAtgcatccaaacgagccaaaa	8	13	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr12:68052027A>G	ENST00000344096.3	+	3	1753	c.1340A>G	c.(1339-1341)gAt>gGt	p.D447G	DYRK2_ENST00000393555.3_Missense_Mutation_p.D374G|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AAACTGCTGGATGCATCCAAA	0.542																																																	0								ENSG00000127334						68	61	63					12																	68052027		2203	4300	6503	DYRK2	SO:0001583	missense	0			-	HGNC	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1340A>G	12.37:g.68052027A>G	ENSP00000342105:p.Asp447Gly	Somatic	0	32	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	287	650	30.56	B2R9V9|Q9BRB5	Missense_Mutation	SNP	34	0	0	998	30.84	446	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D447G	ENST00000344096.3	37	c.1340	CCDS8978.1	12	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501728	0.26949	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.65916	-0.18;-0.18	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043892	0.85682	D	0.000000	T	0.49592	0.1566	N	0.25332	0.735	0.80722	D	1	B	0.09022	0.002	B	0.20384	0.029	T	0.41928	-0.9481	9	.	.	.	.	15.5002	0.75691	1.0:0.0:0.0:0.0	.	447	Q92630	DYRK2_HUMAN	G	447;374	ENSP00000342105:D447G;ENSP00000377186:D374G	.	D	+	2	0	DYRK2	66338294	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.256000	0.78350	2.209000	0.71365	0.254000	0.18369	GAT	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	protein_coding	OTTHUMT00000402218.1	A		-		68052027	1	no_errors	ENST00000344096	ensembl	human	known	74_37	missense	SNP	1.000	G	G	68052027	A	G	68052027	3	3	24	1	0	0	0	0	1	0	0	0	4858	333	12	5	1350	5	DYRK2	12	68052027	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	1195311	68052027	65799868	69	1691											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454233	84454233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggatcctcagtttgggCatggcattgaaagtgcccgg	14	8	1	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr13:84454233C>T	ENST00000377084.2	-	1	2295	c.1410G>A	c.(1408-1410)atG>atA	p.M470I		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	470					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)		TCAGTTTGGGCATGGCATTGA	0.557																																																	0								ENSG00000178235						73	67	69					13																	84454233		2203	4300	6503	SLITRK1	SO:0001583	missense	0			-	HGNC	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.1410G>A	13.37:g.84454233C>T	ENSP00000366288:p.Met470Ile	Somatic	0	77	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40	Q5U5I6|Q96SF9	Missense_Mutation	SNP	20	0	0	29	25.00	10	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.M470I	ENST00000377084.2	37	c.1410	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574971	0.65878	.	.	ENSG00000178235	ENST00000377084	T	0.58210	0.35	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.72624	2.21	0.80722	D	1	P	0.38420	0.63	P	0.44732	0.459	T	0.66854	-0.5818	10	0.72032	D	0.01	-18.6145	17.693	0.88273	0.0:1.0:0.0:0.0	.	470	Q96PX8	SLIK1_HUMAN	I	470	ENSP00000366288:M470I	ENSP00000366288:M470I	M	-	3	0	SLITRK1	83352234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.047000	0.71038	2.603000	0.88011	0.655000	0.94253	ATG	-	smart_Leu-rich_rpt_typical-subtyp		0.557	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	protein_coding	OTTHUMT00000045396.1	C	NM_052910	-		84454233	-1	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84454233	C	T	84454233	3	4	24	1	0	0	0	0	1	0	0	0	14750	710	25	2	684	2	SLITRK1	13	84454233	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		84454233	30715645	70	1692											
EML1	2009	genome.wustl.edu	37	chr14	100402591	100402591	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttaccctcccagggtcattCcagcttcattactcacctgg	6	15	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr14:100402591C>G	ENST00000262233.6	+	19	2154	c.2015C>G	c.(2014-2016)tCc>tGc	p.S672C	EML1_ENST00000327921.9_Missense_Mutation_p.S660C|EML1_ENST00000334192.4_Missense_Mutation_p.S691C	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	672	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGGGTCATTCCAGCTTCATT	0.483																																																	0								ENSG00000066629						107	93	98					14																	100402591		2203	4300	6503	EML1	SO:0001583	missense	0			-	HGNC	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2015C>G	14.37:g.100402591C>G	ENSP00000262233:p.Ser672Cys	Somatic	0	67	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	115	19.01	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	35	0	0	115	16.67	23	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S691C	ENST00000262233.6	37	c.2072	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396139	0.62177	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.61859	0.07;0.07;0.07	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.93550	3.43	0.80722	D	1	B;B;B	0.32338	0.009;0.365;0.009	B;B;B	0.41691	0.015;0.364;0.016	T	0.80430	-0.1386	10	0.87932	D	0	-24.2813	17.709	0.88316	0.0:1.0:0.0:0.0	.	660;672;691	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	C	660;672;691;691	ENSP00000327384:S660C;ENSP00000262233:S672C;ENSP00000334314:S691C	ENSP00000262233:S672C	S	+	2	0	EML1	99472344	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.624000	0.83124	2.429000	0.82318	0.561000	0.74099	TCC	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.483	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	protein_coding	OTTHUMT00000413943.1	C	NM_001008707	-		100402591	1	no_errors	ENST00000334192	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100402591	C	G	100402591	3	3	24	1	0	0	0	0	1	0	0	0	5098	855	30	4	2150	4	EML1	14	100402591	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		100402591	6946949	71	1693											
EML1	2009	genome.wustl.edu	37	chr14	100402664	100402664	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aattccggagactacgaaatCctctactgtgagtaccaccc	7	13	1	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr14:100402664C>A	ENST00000262233.6	+	19	2227	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	EML1_ENST00000327921.9_Silent_p.I684I|EML1_ENST00000334192.4_Silent_p.I715I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	696	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTACGAAATCCTCTACTGTG	0.507																																																	0								ENSG00000066629						88	71	77					14																	100402664		2202	4300	6502	EML1	SO:0001819	synonymous_variant	0			-	HGNC	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2088C>A	14.37:g.100402664C>A		Somatic	0	53	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	84	13.13	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	32	0	0	117	15.83	22	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I715	ENST00000262233.6	37	c.2145	CCDS32155.1	14																																																																																			-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.507	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	protein_coding	OTTHUMT00000413943.1	C	NM_001008707	-		100402664	1	no_errors	ENST00000334192	ensembl	human	known	74_37	silent	SNP	1.000	A	A	100402664	C	A	100402664	2	1	24	1	0	0	0	0	0	0	0	1	5098	845	30	3		3	EML1	14	100402664	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	73	100402664	6946876	72	1694											
KLF13	51621	genome.wustl.edu	37	chr15	31664456	31664456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcagcgactacagccGctccgacgccagcagcccca	8	21	1	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr15:31664456G>A	ENST00000307145.3	+	2	1179	c.821G>A	c.(820-822)cGc>cAc	p.R274H	KLF13_ENST00000560473.1_Missense_Mutation_p.R86H	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	274	Ser-rich.				negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GACTACAGCCGCTCCGACGCC	0.731																																																	0								ENSG00000169926						3	5	4					15																	31664456		1715	3530	5245	KLF13	SO:0001583	missense	0			-	HGNC	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.821G>A	15.37:g.31664456G>A	ENSP00000302456:p.Arg274His	Somatic	0	26	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	5	54.55	Q9Y356	Missense_Mutation	SNP	9	0	0	8	50.00	8	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R274H	ENST00000307145.3	37	c.821	CCDS10025.1	15	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591859	0.86953	.	.	ENSG00000169926	ENST00000307145	T	0.11169	2.8	5.11	5.11	0.69529	.	0.000000	0.64402	U	0.000001	T	0.23727	0.0574	L	0.36672	1.1	0.46203	D	0.99892	D	0.89917	1.0	D	0.64410	0.925	T	0.00583	-1.1659	10	0.42905	T	0.14	.	18.9051	0.92456	0.0:0.0:1.0:0.0	.	274	Q9Y2Y9	KLF13_HUMAN	H	274	ENSP00000302456:R274H	ENSP00000302456:R274H	R	+	2	0	KLF13	29451748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.051000	0.71072	2.543000	0.85770	0.655000	0.94253	CGC	-	NULL		0.731	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF13	protein_coding	OTTHUMT00000251381.1	G	NM_015995	-		31664456	1	no_errors	ENST00000307145	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31664456	G	A	31664456	3	1	24	1	0	0	0	0	1	0	0	0	8343	1087	38	1	827	1	KLF13	15	31664456	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		31664456	70866936	73	1695											
CASC5	57082	genome.wustl.edu	37	chr15	40907552	40907552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttttaggaataagaaattaGaagataattactgtgaaatt	7	1	0	4			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr15:40907552G>C	ENST00000346991.5	+	9	766	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	CASC5_ENST00000399668.2_Missense_Mutation_p.E100Q|RN7SL376P_ENST00000578594.1_RNA|CASC5_ENST00000527044.1_Missense_Mutation_p.E98Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	126	Interaction with BUB1 and BUB1B.				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)		TAAGAAATTAGAAGATAATTA	0.274																																																	0								ENSG00000137812						24	23	24					15																	40907552		1770	4037	5807	CASC5	SO:0001583	missense	0			-	HGNC	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.376G>C	15.37:g.40907552G>C	ENSP00000335463:p.Glu126Gln	Somatic	0	89	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	48	23.81	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	32	0	0	38	30.36	17	NULL	p.E126Q	ENST00000346991.5	37	c.376	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603773	0.46423	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000527044;ENST00000399668	T;T;T	0.41758	3.19;1.54;0.99	4.71	4.71	0.59529	.	0.355098	0.23378	N	0.048838	T	0.55194	0.1905	L	0.43152	1.355	0.24298	N	0.995138	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.68943	0.93;0.93;0.961	T	0.49214	-0.8963	10	0.62326	D	0.03	.	14.7248	0.69336	0.0:0.0:1.0:0.0	.	100;126;100	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Q	126;100;98;100	ENSP00000335463:E126Q;ENSP00000432654:E98Q;ENSP00000382576:E100Q	ENSP00000260369:E100Q	E	+	1	0	CASC5	38694844	1.000000	0.71417	0.960000	0.40013	0.452000	0.32318	5.138000	0.64795	2.331000	0.79229	0.455000	0.32223	GAA	-	NULL		0.274	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	protein_coding	OTTHUMT00000390224.2	G	NM_144508	-		40907552	1	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	SNP	0.983	C	C	40907552	G	C	40907552	3	2	24	1	0	0	0	0	1	0	0	0	2665	943	33	4	406	4	CASC5	15	40907552	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	9243096	40907552	61623840	74	1696											
TARSL2	123283	genome.wustl.edu	37	chr15	102211786	102211786	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcatccttgatttttatgtCaatctacaaattaaataatg	4	6	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr15:102211786C>G	ENST00000335968.3	-	15	2086	c.1870G>C	c.(1870-1872)Gac>Cac	p.D624H		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	624					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTTTTATGTCAATCTACAAA	0.338																																																	0								ENSG00000185418						133	132	132					15																	102211786		2203	4300	6503	TARSL2	SO:0001583	missense	0			-	HGNC	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1870G>C	15.37:g.102211786C>G	ENSP00000338093:p.Asp624His	Somatic	0	51	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	33	0	0	62	22.50	18	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.D624H	ENST00000335968.3	37	c.1870	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938541	0.73557	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.11	5.11	0.69529	Aminoacyl-tRNA synthetase, class II (1);	0.048102	0.85682	D	0.000000	D	0.89904	0.6850	H	0.98682	4.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68039	0.91;0.955	D	0.93790	0.7091	9	0.87932	D	0	-22.0922	16.1038	0.81205	0.0:1.0:0.0:0.0	.	624;529	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	H	624;529;624	.	ENSP00000329291:D529H	D	-	1	0	TARSL2	100029309	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	7.388000	0.79795	2.399000	0.81585	0.585000	0.79938	GAC	-	pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa		0.338	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	protein_coding	OTTHUMT00000313619.3	C	NM_152334	-		102211786	-1	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102211786	C	G	102211786	3	3	24	1	0	0	0	0	1	0	0	0	15568	826	29	4	558	4	TARSL2	15	102211786	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	61304234	102211786	319606	75	1697											
HMOX2	3163	genome.wustl.edu	37	chr16	4559676	4559676	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccgaacagctatggctgtGctgaggaagcccagcctcca	11	13	0	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr16:4559676G>C	ENST00000570646.1	+	6	1475	c.870G>C	c.(868-870)gtG>gtC	p.V290V	HMOX2_ENST00000219700.6_Silent_p.V290V|HMOX2_ENST00000398595.3_Silent_p.V290V|HMOX2_ENST00000458134.3_Silent_p.V290V|HMOX2_ENST00000406590.2_Silent_p.V290V|HMOX2_ENST00000575120.1_Silent_p.V261V|HMOX2_ENST00000414777.1_Silent_p.V290V	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	290					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CTATGGCTGTGCTGAGGAAGC	0.597																																																	0								ENSG00000103415						81	75	77					16																	4559676		2197	4300	6497	HMOX2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.870G>C	16.37:g.4559676G>C		Somatic	0	48	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	15	82.61	A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	22	0	0	19	85.71	114	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.V290	ENST00000570646.1	37	c.870	CCDS10517.1	16																																																																																			-	pirsf_Haem_Oase		0.597	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX2	protein_coding	OTTHUMT00000251636.2	G		-		4559676	1	no_errors	ENST00000219700	ensembl	human	known	74_37	silent	SNP	0.995	C	C	4559676	G	C	4559676	2	2	24	1	0	0	0	0	0	0	0	1	7246	1306	46	4		4	HMOX2	16	4559676	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		4559676	85795077	76	1698											
ITPRIPL2	162073	genome.wustl.edu	37	chr16	19126010	19126010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccggcagcgcttcctgcCcgggtctccccgtctggagg	14	16	2	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr16:19126010C>A	ENST00000381440.3	+	1	757	c.227C>A	c.(226-228)cCc>cAc	p.P76H	CTD-2349B8.1_ENST00000564808.2_Silent_p.A57A	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	76						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGCTTCCTGCCCGGGTCTCCC	0.657																																																	0								ENSG00000205730						20	21	20					16																	19126010		2197	4299	6496	ITPRIPL2	SO:0001583	missense	0			-	HGNC		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.227C>A	16.37:g.19126010C>A	ENSP00000370849:p.Pro76His	Somatic	0	15	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50		Missense_Mutation	SNP	27	3.57	1	22	38.89	14	NULL	p.P76H	ENST00000381440.3	37	c.227	CCDS32395.1	16	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689723	0.14973	.	.	ENSG00000205730	ENST00000381440	T	0.15718	2.4	3.9	2.86	0.33363	.	0.160076	0.20589	U	0.089385	T	0.08537	0.0212	N	0.14661	0.345	0.18873	N	0.999986	P	0.39964	0.697	B	0.35353	0.201	T	0.19128	-1.0315	10	0.54805	T	0.06	-12.3666	7.6176	0.28167	0.0:0.7374:0.1669:0.0956	.	76	Q3MIP1	IPIL2_HUMAN	H	76	ENSP00000370849:P76H	ENSP00000370849:P76H	P	+	2	0	ITPRIPL2	19033511	0.906000	0.30813	0.741000	0.31004	0.202000	0.24057	1.660000	0.37397	1.896000	0.54893	0.467000	0.42956	CCC	-	NULL		0.657	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIPL2	protein_coding	OTTHUMT00000435827.3	C	NM_001034841	-		19126010	1	no_errors	ENST00000381440	ensembl	human	known	74_37	missense	SNP	0.206	A	A	19126010	C	A	19126010	3	1	24	1	0	0	0	0	1	0	0	0	7927	623	22	3	229	3	ITPRIPL2	16	19126010	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	14566334	19126010	71228743	77	1699											
DNAH3	55567	genome.wustl.edu	37	chr16	21073855	21073855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggaacagtttctttttccGagctgatcatgcccacaatt	7	10	2	1	rs370381549		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr16:21073855G>A	ENST00000261383.3	-	25	3667	c.3668C>T	c.(3667-3669)tCg>tTg	p.S1223L	DNAH3_ENST00000415178.1_Missense_Mutation_p.S1223L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1223	Stem. {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)			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)		TTCTTTTTCCGAGCTGATCAT	0.428																																																	0								ENSG00000158486	G	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	160	148	152		3668	5.9	1	16		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH3	NM_017539.1	145	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1223/4117	21073855	2,13000	2201	4300	6501	DNAH3	SO:0001583	missense	0			-	HGNC	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.3668C>T	16.37:g.21073855G>A	ENSP00000261383:p.Ser1223Leu	Somatic	0	44	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	3	90.62	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	28	3.45	1	6	85.37	35	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.S1223L	ENST00000261383.3	37	c.3668	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513196	0.85389	2.27E-4	1.16E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62498	0.02;0.02	5.9	5.9	0.94986	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000002	T	0.80649	0.4663	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.80301	-0.1440	10	0.54805	T	0.06	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	1223	Q8TD57	DYH3_HUMAN	L	1223	ENSP00000261383:S1223L;ENSP00000394245:S1223L	ENSP00000261383:S1223L	S	-	2	0	DNAH3	20981356	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.207000	0.72159	2.797000	0.96272	0.655000	0.94253	TCG	-	pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase		0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	G	NM_017539	-		21073855	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	SNP	0.998	A	A	21073855	G	A	21073855	3	1	24	1	0	0	0	0	1	0	0	0	4605	1059	37	1	8833	1	DNAH3	16	21073855	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	1947845	21073855	69280898	78	1700											
SLC5A11	115584	genome.wustl.edu	37	chr16	24909327	24909327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggactctggctgccaagaaCctgtcccatgccaaaggagg	12	13	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr16:24909327C>A	ENST00000347898.3	+	10	1525	c.903C>A	c.(901-903)aaC>aaA	p.N301K	SLC5A11_ENST00000545376.1_Missense_Mutation_p.N231K|SLC5A11_ENST00000567758.1_Missense_Mutation_p.N266K|SLC5A11_ENST00000568579.1_Missense_Mutation_p.N231K|SLC5A11_ENST00000424767.2_Missense_Mutation_p.N266K|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P169T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.N237K|SLC5A11_ENST00000565769.1_Missense_Mutation_p.N237K|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P169T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGCCAAGAACCTGTCCCATG	0.537																																																	0								ENSG00000158865						216	188	198					16																	24909327		2197	4300	6497	SLC5A11	SO:0001583	missense	0			-	HGNC	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.903C>A	16.37:g.24909327C>A	ENSP00000289932:p.Asn301Lys	Somatic	0	50	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45		Missense_Mutation	SNP	34	0	0	47	22.95	14	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.N301K	ENST00000347898.3	37	c.903	CCDS10625.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.991181|3.991181	0.74703|0.74703	.|.	.|.	ENSG00000158865|ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472|ENST00000449109	D;D;D;D|D	0.88431|0.83335	-2.26;-2.35;-2.34;-2.38|-1.71	5.53|5.53	4.57|4.57	0.56435|0.56435	.|.	0.130671|.	0.64402|.	D|.	0.000002|.	D|D	0.83995|0.83995	0.5375|0.5375	M|M	0.90252|0.90252	3.1|3.1	0.47374|0.47374	D|D	0.999407|0.999407	D;D;D|B	0.71674|0.19445	0.993;0.997;0.998|0.036	P;D;D|B	0.71870|0.10450	0.907;0.933;0.975|0.005	T|T	0.79427|0.79427	-0.1808|-0.1808	10|9	0.87932|0.19147	D|T	0|0.46	.|.	12.4963|12.4963	0.55929|0.55929	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	231;266;301|169	B7Z329;Q8WWX8-2;Q8WWX8|Q05BF1	.;.;SC5AB_HUMAN|.	K|T	301;266;231;237|169	ENSP00000289932:N301K;ENSP00000416782:N266K;ENSP00000441384:N231K;ENSP00000441018:N237K|ENSP00000389606:P169T	ENSP00000289932:N301K|ENSP00000389606:P169T	N|P	+|+	3|1	2|0	SLC5A11|SLC5A11	24816828|24816828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.627000|1.627000	0.37050|0.37050	2.612000|2.612000	0.88384|0.88384	0.655000|0.655000	0.94253|0.94253	AAC|CCT	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.537	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	protein_coding	OTTHUMT00000214091.3	C	NM_052944	-		24909327	1	no_errors	ENST00000347898	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24909327	C	A	24909327	3	1	24	1	0	0	0	0	1	0	0	0	14671	506	18	3	937	3	SLC5A11	16	24909327	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	3835472	24909327	65445426	79	1701											
TMEM132E	124842	genome.wustl.edu	37	chr17	32963185	32963185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatcctagccaccacaGctgcccaacagaccttgagc	6	18	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr17:32963185G>A	ENST00000321639.5	+	9	2195	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	623						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGCCACCACAGCTGCCCAACA	0.627																																																	0								ENSG00000181291						49	39	43					17																	32963185		2203	4299	6502	TMEM132E	SO:0001583	missense	0			-	HGNC	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1867G>A	17.37:g.32963185G>A	ENSP00000316532:p.Ala623Thr	Somatic	0	71	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	46	43.21	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	29	0	0	24	62.50	40	NULL	p.A623T	ENST00000321639.5	37	c.1867	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083620	0.08533	.	.	ENSG00000181291	ENST00000321639	T	0.16597	2.33	5.56	4.59	0.56863	.	0.172114	0.52532	N	0.000071	T	0.07999	0.0200	N	0.16130	0.375	0.40291	D	0.978506	B	0.12630	0.006	B	0.13407	0.009	T	0.19224	-1.0312	10	0.09590	T	0.72	-12.0999	6.1945	0.20542	0.1549:0.0:0.6938:0.1513	.	623	Q6IEE7	T132E_HUMAN	T	623	ENSP00000316532:A623T	ENSP00000316532:A623T	A	+	1	0	TMEM132E	29987298	0.861000	0.29849	0.137000	0.22149	0.882000	0.50991	2.580000	0.46068	1.347000	0.45714	0.551000	0.68910	GCT	-	NULL		0.627	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	protein_coding	OTTHUMT00000256440.2	G	NM_207313	-		32963185	1	no_errors	ENST00000321639	ensembl	human	known	74_37	missense	SNP	0.737	A	A	32963185	G	A	32963185	3	1	24	1	0	0	0	0	1	0	0	0	16055	971	34	2	1901	2	TMEM132E	17	32963185	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		32963185	48232025	80	1702											
KRTAP4-8	728224	genome.wustl.edu	37	chr17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctggggcgacagcagGtgggctggcagcacacagac	17	11	0	1	rs201246375		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																																	0								ENSG00000204880						7	10	9					17																	39254149		651	1515	2166	KRTAP4-8	SO:0001583	missense	0			-	HGNC	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser	Somatic	0	109	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	100	9.91	A8MSH3	Missense_Mutation	SNP	19	5	1	23	4.17	1	pfam_Keratin-assoc	p.T63S	ENST00000333822.4	37	c.188	CCDS45674.1	17	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC	-	pfam_Keratin-assoc		0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	protein_coding	OTTHUMT00000257684.1	G	NM_031960	rs201246375		39254149	-1	no_errors	ENST00000333822	ensembl	human	known	74_37	missense	SNP	0.004	C	C	39254149	G	C	39254149	3	2	24	1	0	0	0	0	1	0	0	0	8558	1261	44	4	373	4	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	6290964	39254149	41941061	81	1703											
MPO	4353	genome.wustl.edu	37	chr17	56357978	56357978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttacctggagcagcacCttcagagggctggggcgtgg	16	10	1	1	rs200249653		TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr17:56357978C>T	ENST00000225275.3	-	1	318	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.G48S	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	48					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGAGCAGCACCTTCAGAGGGC	0.592																																																	0								ENSG00000005381	C	SER/GLY	4,4402	8.1+/-20.4	0,4,2199	63	55	58		142	1.1	0	17		58	0,8600		0,0,4300	yes	missense	MPO	NM_000250.1	56	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	48/746	56357978	4,13002	2203	4300	6503	MPO	SO:0001583	missense	0			-	HGNC		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.142G>A	17.37:g.56357978C>T	ENSP00000225275:p.Gly48Ser	Somatic	0	39	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	28	0	0	50	28.57	20	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.G48S	ENST00000225275.3	37	c.142	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	5.229	0.227758	0.09916	9.08E-4	0.0	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.68479	-0.33;-0.32	5.36	1.15	0.20763	.	0.853612	0.10298	N	0.691450	T	0.48554	0.1506	N	0.21448	0.665	0.09310	N	1	B	0.19331	0.035	B	0.17722	0.019	T	0.25502	-1.0130	10	0.12430	T	0.62	-0.3179	10.1937	0.43041	0.0:0.7017:0.0:0.2983	.	48	P05164	PERM_HUMAN	S	48	ENSP00000344419:G48S;ENSP00000225275:G48S	ENSP00000225275:G48S	G	-	1	0	MPO	53712977	0.001000	0.12720	0.000000	0.03702	0.240000	0.25518	0.313000	0.19415	-0.196000	0.10366	-1.134000	0.01955	GGT	-	NULL		0.592	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	protein_coding	OTTHUMT00000443971.1	C		rs200249653		56357978	-1	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	SNP	0.000	T	T	56357978	C	T	56357978	3	4	24	1	0	0	0	0	1	0	0	0	9734	681	24	2	2143	2	MPO	17	56357978	Missense_Mutation	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09	17103829	56357978	24837232	82	1704											
CBLN2	147381	genome.wustl.edu	37	chr18	70205471	70205471	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccagccccccatgaggttGcctctctcaagtttgagatg	9	13	2	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr18:70205471G>C	ENST00000269503.4	-	5	1388	c.615C>G	c.(613-615)ggC>ggG	p.G205G	CBLN2_ENST00000581073.1_Silent_p.G91G|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Silent_p.G205G|CBLN2_ENST00000584764.1_Silent_p.G89G	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	205	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CCATGAGGTTGCCTCTCTCAA	0.522																																																	0								ENSG00000141668						110	106	108					18																	70205471		2203	4300	6503	CBLN2	SO:0001819	synonymous_variant	0			-	HGNC	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.615C>G	18.37:g.70205471G>C		Somatic	0	38	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	8	46.67	Q53Z56	Silent	SNP	31	0	0	7	66.67	14	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G205	ENST00000269503.4	37	c.615	CCDS11999.1	18																																																																																			-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.522	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	protein_coding	OTTHUMT00000256288.1	G	NM_182511	-		70205471	-1	no_errors	ENST00000269503	ensembl	human	known	74_37	silent	SNP	1.000	C	C	70205471	G	C	70205471	2	2	24	1	0	0	0	0	0	0	0	1	2707	1306	46	4		4	CBLN2	18	70205471	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		70205471	7871777	83	1705											
ATP9B	374868	genome.wustl.edu	37	chr18	76967012	76967012	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagcaccattgttgcatcaGgtaaggaaaacattctcctc	7	11	2	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr18:76967012G>C	ENST00000426216.2	+	10	1047	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	ATP9B_ENST00000307671.7_Splice_Site_p.G344R	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	344					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)			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)		TGTTGCATCAGGTAAGGAAAA	0.458																																																	0								ENSG00000166377						130	118	122					18																	76967012		2203	4300	6503	ATP9B	SO:0001630	splice_region_variant	0			-	HGNC	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.1030+1G>C	18.37:g.76967012G>C		Somatic	0	102	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	275	22.32	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	37	0	0	135	19.16	32	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G344R	ENST00000426216.2	37	c.1030	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547588	0.65311	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.94650	-3.48;-3.48	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97917	1.0312	10	0.72032	D	0.01	.	17.9923	0.89172	0.0:0.0:1.0:0.0	.	344;344	O43861;O43861-2	ATP9B_HUMAN;.	R	344	ENSP00000398076:G344R;ENSP00000304500:G344R	ENSP00000304500:G344R	G	+	1	0	ATP9B	75068000	1.000000	0.71417	0.992000	0.48379	0.169000	0.22640	7.963000	0.87922	2.550000	0.86006	0.455000	0.32223	GGT	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.458	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	protein_coding	OTTHUMT00000256402.3	G	NM_198531	-	Missense_Mutation	76967012	1	no_errors	ENST00000426216	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76967012	G	C	76967012	5	2	24	1	0	0	0	0	0	0	1	0	1199	1014	35	4	1068	4	ATP9B	18	76967012	Splice_Site	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	6761541	76967012	1110236	84	1706											
EMR1	2015	genome.wustl.edu	37	chr19	6913680	6913680	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatacaactgagagctTtgtccctgtgcttaaacaaa	8	9	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr19:6913680T>A	ENST00000312053.4	+	11	1176	c.1139T>A	c.(1138-1140)tTt>tAt	p.F380Y	EMR1_ENST00000381407.5_Missense_Mutation_p.F239Y|EMR1_ENST00000381404.4_Missense_Mutation_p.F328Y|EMR1_ENST00000250572.8_Missense_Mutation_p.F380Y|EMR1_ENST00000450315.3_Missense_Mutation_p.F203Y	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	380	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTGAGAGCTTTGTCCCTGTG	0.428																																																	0								ENSG00000174837						77	74	75					19																	6913680		2203	4300	6503	EMR1	SO:0001583	missense	0			-	HGNC	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1139T>A	19.37:g.6913680T>A	ENSP00000311545:p.Phe380Tyr	Somatic	0	42	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	37	0	0	54	0.00	0	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.F380Y	ENST00000312053.4	37	c.1139	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	T	15.45	2.835759	0.50951	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79141	-1.18;-1.19;-1.24;-0.01;0.29	4.99	4.99	0.66335	.	.	.	.	.	T	0.81019	0.4736	M	0.62723	1.935	0.09310	N	1	D;P;P;P;P	0.54964	0.969;0.92;0.952;0.92;0.92	P;B;P;B;B	0.53809	0.735;0.335;0.453;0.335;0.435	T	0.71371	-0.4613	9	0.32370	T	0.25	.	11.0715	0.48006	0.0:0.0:0.0:1.0	.	203;239;380;328;380	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Y	380;380;328;380;239;203	ENSP00000311545:F380Y;ENSP00000370811:F328Y;ENSP00000250572:F380Y;ENSP00000370814:F239Y;ENSP00000405974:F203Y	ENSP00000250572:F380Y	F	+	2	0	EMR1	6864680	0.021000	0.18746	0.003000	0.11579	0.004000	0.04260	3.246000	0.51414	1.875000	0.54330	0.533000	0.62120	TTT	-	NULL		0.428	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	T		-		6913680	1	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	SNP	0.005	A	A	6913680	T	A	6913680	3	1	24	1	0	0	0	0	1	0	0	0	5106	1841	64	5	1181	5	EMR1	19	6913680	Missense_Mutation	SNP	T	TCGA-DX-A1L0-01A-11D-A24N-09		6913680	52215303	85	1707											
LRRC8E	80131	genome.wustl.edu	37	chr19	7963872	7963872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctccatcctgggcaaGtgtttcgactctccatggac	8	13	3	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr19:7963872G>A	ENST00000306708.6	+	3	566	c.465G>A	c.(463-465)aaG>aaA	p.K155K	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	155					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCTGGGCAAGTGTTTCGACT	0.567																																																	0								ENSG00000171017						109	110	109					19																	7963872		2203	4300	6503	LRRC8E	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.465G>A	19.37:g.7963872G>A		Somatic	0	62	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	47	30.88	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	37	0	0	67	17.28	14	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K155	ENST00000306708.6	37	c.465	CCDS12189.1	19																																																																																			-	NULL		0.567	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	protein_coding	OTTHUMT00000461354.1	G	NM_025061	-		7963872	1	no_errors	ENST00000306708	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7963872	G	A	7963872	2	1	24	1	0	0	0	0	0	0	0	1	9027	1020	36	2		2	LRRC8E	19	7963872	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	1050192	7963872	51165111	86	1708											
MYO1F	4542	genome.wustl.edu	37	chr19	8601180	8601180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgctccccatctggtActggtcgggctccatgttga	12	12	1	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr19:8601180A>T	ENST00000338257.8	-	19	2266	c.1999T>A	c.(1999-2001)Tac>Aac	p.Y667N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	667	Myosin motor.				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)			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						CCCATCTGGTACTGGTCGGGC	0.602																																																	0								ENSG00000142347						74	76	75					19																	8601180		2016	4211	6227	MYO1F	SO:0001583	missense	0			-	HGNC	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.1999T>A	19.37:g.8601180A>T	ENSP00000344871:p.Tyr667Asn	Somatic	0	98	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	66	43.10	Q8WWN7	Missense_Mutation	SNP	29	0	0	33	47.62	30	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Y667N	ENST00000338257.8	37	c.1999	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866958	0.91511	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95980	-3.87	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.157596	0.44097	D	0.000490	D	0.98197	0.9404	H	0.96833	3.89	0.80722	D	1	D	0.54601	0.967	P	0.61658	0.892	D	0.99129	1.0852	10	0.87932	D	0	.	13.0366	0.58875	1.0:0.0:0.0:0.0	.	667	O00160	MYO1F_HUMAN	N	712;667	ENSP00000344871:Y667N	ENSP00000304899:Y712N	Y	-	1	0	MYO1F	8507180	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.257000	0.95545	1.687000	0.51057	0.372000	0.22366	TAC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.602	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	A		-		8601180	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8601180	A	T	8601180	3	4	24	1	0	0	0	0	1	0	0	0	10075	391	14	5	1337	5	MYO1F	19	8601180	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	637308	8601180	50527803	87	1709											
CPAMD8	27151	genome.wustl.edu	37	chr19	17086945	17086945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggttgggtctcatttgctGaatacgtcactgaaaccttg	10	9	2	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr19:17086945G>A	ENST00000443236.1	-	16	1947	c.1916C>T	c.(1915-1917)tCa>tTa	p.S639L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	592						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCATTTGCTGAATACGTCAC	0.542																																																	0								ENSG00000160111						41	44	43					19																	17086945		2052	4197	6249	CPAMD8	SO:0001583	missense	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1916C>T	19.37:g.17086945G>A	ENSP00000402505:p.Ser639Leu	Somatic	0	34	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	Q8NC09|Q9ULD7	Missense_Mutation	SNP	32	0	0	38	52.50	42	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.S639L	ENST00000443236.1	37	c.1916	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.566419|2.566419	0.45694|0.45694	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.89|2.89	2.89|2.89	0.33648|0.33648	.|Alpha-2-macroglobulin, N-terminal 2 (1);	.|0.000000	.|0.56097	.|D	.|0.000030	.|D	.|0.84124	.|0.5403	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|D	.|0.88134	.|0.2840	.|9	.|0.72032	.|D	.|0.01	.|.	14.0561|14.0561	0.64769|0.64769	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|592	.|Q8IZJ3	.|CPMD8_HUMAN	X|L	650|639	.|.	.|ENSP00000291440:S639L	Q|S	-|-	1|2	0|0	CPAMD8|CPAMD8	16947945|16947945	1.000000|1.000000	0.71417|0.71417	0.672000|0.672000	0.29872|0.29872	0.174000|0.174000	0.22865|0.22865	6.513000|6.513000	0.73742|0.73742	1.351000|1.351000	0.45789|0.45789	0.561000|0.561000	0.74099|0.74099	CAG|TCA	-	pfam_A2M_N_2		0.542	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	G	NM_015692	-		17086945	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	SNP	0.971	A	A	17086945	G	A	17086945	3	1	24	1	0	0	0	0	1	0	0	0	3797	1294	45	2	3990	2	CPAMD8	19	17086945	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	8485765	17086945	42042038	88	1710											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55331443	55331443	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcagttgtcagctcccagtGatcccctggacatcgtggtc	10	13	2	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr19:55331443G>A	ENST00000391728.4	+	4	664	c.631G>A	c.(631-633)Gat>Aat	p.D211N	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D211N|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.D211N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D211N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D116N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D211N	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	211					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCTCCCAGTGATCCCCTGGA	0.532																																																	0								ENSG00000167633						112	94	100					19																	55331443		2183	4145	6328	KIR3DL1	SO:0001583	missense	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.631G>A	19.37:g.55331443G>A	ENSP00000375608:p.Asp211Asn	Somatic	1	116	0.85		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	54	42.55	O43473|Q14946|Q16541	Missense_Mutation	SNP	20	0	0	14	36.36	8	pfam_Immunoglobulin,smart_Ig_sub	p.D211N	ENST00000391728.4	37	c.631	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	13.37	2.215651	0.39102	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59;5.59	1.44	1.44	0.22558	Immunoglobulin-like fold (1);	0.810514	0.09957	U	0.733958	T	0.02888	0.0086	L	0.45698	1.435	0.09310	N	0.999997	D;D;D;P	0.71674	0.991;0.991;0.998;0.94	D;D;D;B	0.80764	0.92;0.953;0.994;0.39	T	0.51148	-0.8742	10	0.87932	D	0	.	6.3394	0.21314	0.0:0.0:1.0:0.0	.	211;116;211;211	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	N	211;211;211;189;211;211;116	ENSP00000384528:D211N;ENSP00000443350:D211N;ENSP00000442355:D211N;ENSP00000375608:D211N;ENSP00000326868:D211N;ENSP00000350901:D116N	ENSP00000326868:D211N	D	+	1	0	KIR3DL1	60023255	0.439000	0.25610	0.422000	0.26621	0.010000	0.07245	-0.022000	0.12480	1.138000	0.42230	0.184000	0.17185	GAT	-	NULL		0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	protein_coding	OTTHUMT00000141238.1	G	NM_013289	-		55331443	1	no_errors	ENST00000402254	ensembl	human	known	74_37	missense	SNP	0.430	A	A	55331443	G	A	55331443	3	1	24	1	0	0	0	0	1	0	0	0	8322	1290	45	2	645	2	KIR3DL1	19	55331443	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	38244498	55331443	3797540	89	1711											
C20orf186	149954	genome.wustl.edu	37	chr20	31690812	31690812	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacctcaaacgtgggcAactttgatgtaagtaccatg	9	9	2	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr20:31690812A>T	ENST00000375483.3	+	13	1672	c.1672A>T	c.(1672-1674)Aac>Tac	p.N558Y		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	558						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AAACGTGGGCAACTTTGATGT	0.512																																																	0								ENSG00000186191						176	153	161					20																	31690812		2203	4300	6503	BPIFB4	SO:0001583	missense	0			-	HGNC	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1672A>T	20.37:g.31690812A>T	ENSP00000364632:p.Asn558Tyr	Somatic	1	102	0.97		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	98	19.01	Q5TDX6	Missense_Mutation	SNP	34	0	0	53	19.70	13	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.N558Y	ENST00000375483.3	37	c.1672	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443728	0.43429	.	.	ENSG00000186191	ENST00000375483	T	0.08807	3.05	5.67	5.67	0.87782	.	0.245463	0.36034	N	0.002835	T	0.25306	0.0615	M	0.65975	2.015	0.30055	N	0.811386	D	0.76494	0.999	D	0.71184	0.972	T	0.07424	-1.0773	10	0.59425	D	0.04	-30.8019	12.2906	0.54817	1.0:0.0:0.0:0.0	.	558	P59827	BPIB4_HUMAN	Y	558	ENSP00000364632:N558Y	ENSP00000364632:N558Y	N	+	1	0	BPIFB4	31154473	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.473000	0.60196	2.161000	0.67846	0.459000	0.35465	AAC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.512	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	protein_coding	OTTHUMT00000078655.5	A	NM_182519	-		31690812	1	no_errors	ENST00000375483	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31690812	A	T	31690812	3	4	24	1	0	0	0	0	1	0	0	0	2100	130	5	5	1722	5	C20orf186	20	31690812	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09		31690812	31334708	90	1712											
CDH22	64405	genome.wustl.edu	37	chr20	44879759	44879759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagccgcgtttgacgcGgccggctcccagcgcgccgt	13	19	0	1			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr20:44879759G>A	ENST00000372262.3	-	1	575	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	CDH22_ENST00000537909.1_Missense_Mutation_p.R59C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	59					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGTTTGACGCGGCCGGCTCCC	0.726																																																	0								ENSG00000149654						15	18	17					20																	44879759		2183	4256	6439	CDH22	SO:0001583	missense	0			-	HGNC	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.175C>T	20.37:g.44879759G>A	ENSP00000361336:p.Arg59Cys	Somatic	0	24	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	8	68.00	B9EGK7|O43205	Missense_Mutation	SNP	25	0	0	29	44.23	23	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R59C	ENST00000372262.3	37	c.175	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	g	19.77	3.889678	0.72524	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.00587	6.38;6.38	3.29	3.29	0.37713	.	0.000000	0.64402	U	0.000001	T	0.00936	0.0031	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82647	-0.0354	10	0.87932	D	0	.	11.8488	0.52399	0.0:0.0:1.0:0.0	.	59	Q9UJ99	CAD22_HUMAN	C	59	ENSP00000361336:R59C;ENSP00000437790:R59C	ENSP00000361336:R59C	R	-	1	0	CDH22	44313166	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	3.889000	0.56212	1.679000	0.50963	0.187000	0.17357	CGC	-	NULL		0.726	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	protein_coding	OTTHUMT00000080491.1	G	NM_021248	-		44879759	-1	no_errors	ENST00000372262	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44879759	G	A	44879759	3	1	24	1	0	0	0	0	1	0	0	0	3109	1116	39	1	2355	1	CDH22	20	44879759	Missense_Mutation	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	13188947	44879759	18145761	91	1713											
GTPBP5	26164	genome.wustl.edu	37	chr20	60774287	60774287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccacgtcgggatcgtccActacgaaggccacctacaaa	9	16	0	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr20:60774287A>G	ENST00000370823.3	+	6	818	c.800A>G	c.(799-801)cAc>cGc	p.H267R	MTG2_ENST00000536470.1_Missense_Mutation_p.H39R|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	267	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGGATCGTCCACTACGAAGGC	0.498																																																	0								ENSG00000101181						59	58	59					20																	60774287		2203	4300	6503	MTG2	SO:0001583	missense	0			-	HGNC	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.800A>G	20.37:g.60774287A>G	ENSP00000359859:p.His267Arg	Somatic	0	64	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.31	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	36	0	0	24	34.21	13	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.H267R	ENST00000370823.3	37	c.800	CCDS13492.1	20	.	.	.	.	.	.	.	.	.	.	A	7.604	0.673403	0.14776	.	.	ENSG00000101181	ENST00000536470;ENST00000370823	T;T	0.16196	2.36;2.36	5.67	4.57	0.56435	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.474463	0.27730	N	0.018084	T	0.07458	0.0188	N	0.10733	0.035	0.28400	N	0.918665	B	0.10296	0.003	B	0.18263	0.021	T	0.35251	-0.9796	10	0.02654	T	1	-45.5597	10.3438	0.43895	0.8632:0.0:0.1368:0.0	.	267	Q9H4K7	GTPB5_HUMAN	R	39;267	ENSP00000445056:H39R;ENSP00000359859:H267R	ENSP00000359859:H267R	H	+	2	0	GTPBP5	60207682	0.998000	0.40836	0.812000	0.32479	0.244000	0.25665	4.112000	0.57845	0.968000	0.38212	0.459000	0.35465	CAC	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom		0.498	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	MTG2	protein_coding	OTTHUMT00000079989.1	A	NM_015666	-		60774287	1	no_errors	ENST00000370823	ensembl	human	known	74_37	missense	SNP	0.995	G	G	60774287	A	G	60774287	3	3	24	1	0	0	0	0	1	0	0	0	6885	159	6	5	818	5	GTPBP5	20	60774287	Missense_Mutation	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09	15894528	60774287	2251233	92	1714											
DSCAM	1826	genome.wustl.edu	37	chr21	41725408	41725408	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtttcacgtacaggcgGcctatcaccttagcagttcc	8	13	2	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr21:41725408G>T	ENST00000400454.1	-	5	1395	c.918C>A	c.(916-918)ggC>ggA	p.G306G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	306					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.G306G(1)		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)				CGTACAGGCGGCCTATCACCT	0.502																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - coding silent(1)	lung(1)						ENSG00000171587						149	145	147					21																	41725408		2008	4179	6187	DSCAM	SO:0001819	synonymous_variant	0			-	HGNC	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.918C>A	21.37:g.41725408G>T		Somatic	0	52	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	O60468	Silent	SNP	20	0	0	33	0.00	0	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G306	ENST00000400454.1	37	c.918	CCDS42929.1	21																																																																																			-	smart_Ig_sub		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	-		41725408	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	0.981	T	T	41725408	G	T	41725408	2	4	24	1	0	0	0	0	0	0	0	1	4770	1190	42	3		3	DSCAM	21	41725408	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09		41725408	6404487	93	1715											
EP300	2033	genome.wustl.edu	37	chr22	41573178	41573178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagctgcagcaccgActacagcaggcccaaatgct	9	15	0	0			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chr22:41573178A>G	ENST00000263253.7	+	31	6682	c.5463A>G	c.(5461-5463)cgA>cgG	p.R1821R	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1821					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCAGCACCGACTACAGCAGG	0.607			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0								ENSG00000100393						56	59	58					22																	41573178		2203	4300	6503	EP300	SO:0001819	synonymous_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	-	HGNC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5463A>G	22.37:g.41573178A>G		Somatic	0	60	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	B1AKC2	Silent	SNP	28	0	0	32	30.43	14	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1821	ENST00000263253.7	37	c.5463	CCDS14010.1	22																																																																																			-	NULL		0.607	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	A	NM_001429	-		41573178	1	no_errors	ENST00000263253	ensembl	human	known	74_37	silent	SNP	0.956	G	G	41573178	A	G	41573178	2	3	24	1	0	0	0	0	0	0	0	1	5150	262	10	5		5	EP300	22	41573178	Silent	SNP	A	TCGA-DX-A1L0-01A-11D-A24N-09		41573178	9731388	94	1716											
P2RY4	5030	genome.wustl.edu	37	chrX	69479070	69479070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtgggtggcagatgccCaggtagcggtgcacgctgat	17	9	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chrX:69479070C>T	ENST00000374519.2	-	1	584	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	135					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCAGATGCCCAGGTAGCGGT	0.602																																																	0								ENSG00000186912						55	50	51					X																	69479070		2203	4300	6503	P2RY4	SO:0001819	synonymous_variant	0			-	HGNC	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.405G>A	X.37:g.69479070C>T		Somatic	0	35	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	11	0	0	21	53.33	24	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt	p.L135	ENST00000374519.2	37	c.405	CCDS14398.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.602	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	protein_coding	OTTHUMT00000057058.2	C	NM_002565	-		69479070	-1	no_errors	ENST00000374519	ensembl	human	known	74_37	silent	SNP	1.000	T	T	69479070	C	T	69479070	2	4	24	1	0	0	0	0	0	0	0	1	11355	581	21	2		2	P2RY4	23	69479070	Silent	SNP	C	TCGA-DX-A1L0-01A-11D-A24N-09		69479070	85791490	95	1717											
IRS4	8471	genome.wustl.edu	37	chrX	107979563	107979563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtcgcgagtgaaggaGcaactcgccatggtgatgca	15	9	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chrX:107979563G>A	ENST00000372129.2	-	1	88	c.12C>T	c.(10-12)tgC>tgT	p.C4C	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	4					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAGTGAAGGAGCAACTCGCCA	0.597																																																	0								ENSG00000133124						36	36	36					X																	107979563		2203	4300	6503	IRS4	SO:0001819	synonymous_variant	0			-	HGNC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.12C>T	X.37:g.107979563G>A		Somatic	0	56	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58		Silent	SNP	14	0	0	0	100.00	18	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.C4	ENST00000372129.2	37	c.12	CCDS14544.1	X																																																																																			-	NULL		0.597	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	G	NM_003604	-		107979563	-1	no_errors	ENST00000372129	ensembl	human	known	74_37	silent	SNP	0.881	A	A	107979563	G	A	107979563	2	1	24	1	0	0	0	0	0	0	0	1	7844	963	34	2		2	IRS4	23	107979563	Silent	SNP	G	TCGA-DX-A1L0-01A-11D-A24N-09	38500493	107979563	47290997	96	1718											
STAG2	10735	genome.wustl.edu	37	chrX	123197048	123197048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatataccactggacgatTagaaaaggtaagattatttt	7	4	0	2			TCGA-DX-A1L0-01A-11D-A24N-09	TCGA-DX-A1L0-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c188bf5-2c99-4eb4-a774-59c75d53e643	e64c9084-028a-460d-8ebc-5587c4601ea8	g.chrX:123197048T>C	ENST00000371160.1	+	19	2104	c.1814T>C	c.(1813-1815)tTa>tCa	p.L605S	STAG2_ENST00000371144.3_Missense_Mutation_p.L605S|STAG2_ENST00000371157.3_Missense_Mutation_p.L605S|STAG2_ENST00000371145.3_Missense_Mutation_p.L605S|STAG2_ENST00000354548.5_Missense_Mutation_p.L536S|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L605S	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	605					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						ACTGGACGATTAGAAAAGGTA	0.284																																																	0								ENSG00000101972						52	51	51					X																	123197048		2203	4299	6502	STAG2	SO:0001583	missense	0			-	HGNC	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.1814T>C	X.37:g.123197048T>C	ENSP00000360202:p.Leu605Ser	Somatic	0	23	0		0.602030589762529				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	21.05	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	17	0	0	22	0.00	0	pfam_STAG,superfamily_ARM-type_fold	p.L605S	ENST00000371160.1	37	c.1814	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579676	0.65992	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.30792	0.0776	M	0.65975	2.015	0.58432	D	0.999995	D;D	0.69078	0.997;0.996	D;D	0.69142	0.962;0.917	T	0.13899	-1.0492	10	0.09590	T	0.72	-9.0295	14.5044	0.67743	0.0:0.0:0.0:1.0	.	605;605	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	S	605;536;605;605;605;605	ENSP00000218089:L605S;ENSP00000346555:L536S;ENSP00000360202:L605S;ENSP00000360199:L605S;ENSP00000360187:L605S;ENSP00000360186:L605S	ENSP00000218089:L605S	L	+	2	0	STAG2	123024729	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	1.805000	0.52779	0.441000	0.28932	TTA	-	superfamily_ARM-type_fold		0.284	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	T	NM_006603	-		123197048	1	no_errors	ENST00000218089	ensembl	human	known	74_37	missense	SNP	1.000	C	C	123197048	T	C	123197048	3	2	24	1	0	0	0	0	1	0	0	0	15250	1764	61	5	1880	5	STAG2	23	123197048	Missense_Mutation	SNP	T	TCGA-DX-A1L0-01A-11D-A24N-09	15217485	123197048	32073512	97	1719											
RER1	11079	genome.wustl.edu	37	chr1	2332374	2332374	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcccagagtttaaattttGgtgagctaattcttcacggt	9	8	2	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:2332374G>C	ENST00000605895.1	+	5	498	c.365G>C	c.(364-366)tGg>tCg	p.W122S	RER1_ENST00000378513.3_Splice_Site_p.G89R|RER1_ENST00000378518.1_Splice_Site_p.G89R|RER1_ENST00000488353.1_Splice_Site_p.W122S|RER1_ENST00000378512.1_Splice_Site_p.W122S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	122					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TTTAAATTTTGGTGAGCTAAT	0.463																																																	0								ENSG00000157916						89	89	89					1																	2332374		1859	4094	5953	RER1	SO:0001630	splice_region_variant	0			-	HGNC	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.365+1G>C	1.37:g.2332374G>C		Somatic	0	59	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	47	42.17	O95322	Missense_Mutation	SNP							pfam_Rer1,pirsf_Rer1	p.W122S	ENST00000605895.1	37	c.365	CCDS41232.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188387|4.188387	0.78789|0.78789	.|.	.|.	ENSG00000157916|ENSG00000157916	ENST00000378518;ENST00000378513|ENST00000306256;ENST00000434662;ENST00000378512;ENST00000443438	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.40554	.|U	.|0.001072	D|D	0.90373|0.90373	0.6987|0.6987	H|H	0.97758|0.97758	4.07|4.07	0.42761|0.42761	D|D	0.993802|0.993802	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.93521|0.93521	0.6861|0.6861	6|9	0.35671|0.87932	T|D	0.21|0	.|.	18.7848|18.7848	0.91949|0.91949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|122;122	.|Q5T091;O15258	.|.;RER1_HUMAN	R|S	89|122	.|.	ENSP00000367774:G89R|ENSP00000302088:W122S	G|W	+|+	1|2	0|0	RER1|RER1	2322234|2322234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.832000|8.832000	0.92079|0.92079	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GGC|TGG	-	pfam_Rer1,pirsf_Rer1		0.463	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RER1	protein_coding	OTTHUMT00000004061.2	G		-	Missense_Mutation	2332374	1	no_errors	ENST00000488353	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2332374	G	C	2332374	5	2	25	1	0	0	0	0	0	0	1	0	13238	1362	47	4	379	4	RER1	1	2332374	Splice_Site	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		2332374	246918247	1	1720											
HIST2H2BF	440689	genome.wustl.edu	37	chr1	149783702	149783702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagttcatgatgcccatGgccttggacgagatgccggt	14	9	1	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:149783702G>A	ENST00000369167.1	-	1	212	c.177C>T	c.(175-177)gcC>gcT	p.A59A	HIST2H2BF_ENST00000545683.1_Silent_p.A59A|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Silent_p.A59A	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	59					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGATGCCCATGGCCTTGGACG	0.607																																																	0								ENSG00000203814						136	125	129					1																	149783702		2203	4297	6500	HIST2H2BF	SO:0001819	synonymous_variant	0			-	HGNC	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.177C>T	1.37:g.149783702G>A		Somatic	0	110	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	67	57.32	A8K0U9|B4DLA9	Silent	SNP							pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A59	ENST00000369167.1	37	c.177	CCDS30846.1	1																																																																																			-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.607	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	protein_coding	OTTHUMT00000033453.2	G	NM_001024599	-		149783702	-1	no_errors	ENST00000427880	ensembl	human	known	74_37	silent	SNP	1.000	A	A	149783702	G	A	149783702	2	1	25	1	0	0	0	0	0	0	0	1	7182	1335	47	2		2	HIST2H2BF	1	149783702	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	147451328	149783702	99466919	2	1721											
FLG	2312	genome.wustl.edu	37	chr1	152277218	152277218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaagaccctgaacGtccagaccttccccctgacc	9	15	0	5	rs147066553		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:152277218G>A	ENST00000368799.1	-	3	10179	c.10144C>T	c.(10144-10146)Cgt>Tgt	p.R3382C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3382	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)			GACCCTGAACGTCCAGACCTT	0.597									Ichthyosis				G|||	1	0.000199681	0	0.0014	5008	,	,		19061	0		0	False		,,,				2504	0																0								ENSG00000143631	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	257	279	272		10144	-1.4	0	1	dbSNP_134	272	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3382/4062	152277218	1,13005	2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.10144C>T	1.37:g.152277218G>A	ENSP00000357789:p.Arg3382Cys	Somatic	0	180	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	131	25.99	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.R3382C	ENST00000368799.1	37	c.10144	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354762	0.24512	2.27E-4	0.0	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00958	5.5	3.24	-1.37	0.09056	.	.	.	.	.	T	0.01222	0.0040	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.69142	0.962	T	0.45585	-0.9251	9	0.66056	D	0.02	.	2.6372	0.04961	0.402:0.0:0.3838:0.2141	.	3382	P20930	FILA_HUMAN	C	3382;320	ENSP00000357789:R3382C	ENSP00000357786:R320C	R	-	1	0	FLG	150543842	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.323000	0.07997	-0.266000	0.09339	0.454000	0.30748	CGT	-	NULL		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	rs147066553		152277218	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	A	A	152277218	G	A	152277218	3	1	25	1	0	0	0	0	1	0	0	0	5924	1145	40	1	2045	1	FLG	1	152277218	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	2493516	152277218	96973403	3	1722											
F5	2153	genome.wustl.edu	37	chr1	169510185	169510185	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtctggggaaaggtttgtCtgactgagttctggagagag	17	4	3	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:169510185C>T	ENST00000367797.3	-	13	4344	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q	F5_ENST00000367796.3_Silent_p.Q1386Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1381	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAGGTTTGTCTGACTGAGTT	0.537																																																	0								ENSG00000198734						146	162	156					1																	169510185		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4143G>A	1.37:g.169510185C>T		Somatic	0	152	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	69	10.39	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1381	ENST00000367797.3	37	c.4143	CCDS1281.1	1																																																																																			-	NULL		0.537	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169510185	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	0.028	T	T	169510185	C	T	169510185	2	4	25	1	0	0	0	0	0	0	0	1	5350	912	32	2		2	F5	1	169510185	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	17232967	169510185	79740436	4	1723			1	12		3	3	109	N	T_G_C	4.458387e-08
F5	2153	genome.wustl.edu	37	chr1	169510220	169510220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaggtttgtctggctgaGgtctagagaaagggttgtat	16	3	2	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:169510220G>A	ENST00000367797.3	-	13	4309	c.4108C>T	c.(4108-4110)Ctc>Ttc	p.L1370F	F5_ENST00000367796.3_Missense_Mutation_p.L1375F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1370	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L1370F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAGGTCTAGAGAA	0.517																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000198734						160	177	171					1																	169510220		2203	4300	6503	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4108C>T	1.37:g.169510220G>A	ENSP00000356771:p.Leu1370Phe	Somatic	0	177	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	73	10.98	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1370F	ENST00000367797.3	37	c.4108	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	N	6.813	0.519025	0.13005	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	4.3	1.27	0.21489	.	0.912622	0.09500	N	0.793686	T	0.12603	0.0306	M	0.72353	2.195	0.22199	N	0.999292	B	0.12013	0.005	B	0.10450	0.005	T	0.29792	-1.0000	9	0.09338	T	0.73	.	4.856	0.13559	0.1951:0.0:0.632:0.1729	.	1370	P12259	FA5_HUMAN	F	1370;1375	ENSP00000356771:L1370F;ENSP00000356770:L1375F	ENSP00000356770:L1375F	L	-	1	0	F5	167776844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.385000	0.07379	0.368000	0.24481	0.563000	0.77884	CTC	-	NULL		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	G	NM_000130	-		169510220	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	0.003	A	A	169510220	G	A	169510220	3	1	25	1	0	0	0	0	1	0	0	0	5350	1000	35	2	2618	2	F5	1	169510220	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	35	169510220	79740401	5	1724			1	12		3	3	109	N	T_G_C	4.458387e-08
F5	2153	genome.wustl.edu	37	chr1	169510293	169510293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctggggaaaggtttgtTtgactgagttctggagagag	18	3	1	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:169510293T>C	ENST00000367797.3	-	13	4236	c.4035A>G	c.(4033-4035)caA>caG	p.Q1345Q	F5_ENST00000367796.3_Silent_p.Q1350Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1345	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAGGTTTGTTTGACTGAGTT	0.532																																																	0								ENSG00000198734						201	223	215					1																	169510293		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4035A>G	1.37:g.169510293T>C		Somatic	1	219	0.45		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	82	9.78	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1345	ENST00000367797.3	37	c.4035	CCDS1281.1	1																																																																																			-	NULL		0.532	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	T	NM_000130	rs145627172		169510293	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	0.000	C	C	169510293	T	C	169510293	2	2	25	1	0	0	0	0	0	0	0	1	5350	1838	64	5		5	F5	1	169510293	Silent	SNP	T	TCGA-DX-A1L1-01A-11D-A24N-09	73	169510293	79740328	6	1725			1	12		3	3	109	N	T_G_C	4.458387e-08
FAM5B	57795	genome.wustl.edu	37	chr1	177245380	177245380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgagcgctttgtagcTgcagcactcagctacatcac	10	13	2	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:177245380T>C	ENST00000361539.4	+	6	1134	c.822T>C	c.(820-822)gcT>gcC	p.A274A	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	274	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)	extracellular region (GO:0005576)											GCTTTGTAGCTGCAGCACTCA	0.547																																																	0								ENSG00000198797						70	61	64					1																	177245380		2203	4300	6503	BRINP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.822T>C	1.37:g.177245380T>C		Somatic	0	58	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP							pfam_MACPF,smart_MACPF	p.A274	ENST00000361539.4	37	c.822	CCDS1320.1	1																																																																																			-	smart_MACPF		0.547	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	protein_coding	OTTHUMT00000084599.1	T	NM_021165	-		177245380	1	no_errors	ENST00000361539	ensembl	human	known	74_37	silent	SNP	0.001	C	C	177245380	T	C	177245380	2	2	25	1	0	0	0	0	0	0	0	1	5595	1567	55	5		5	FAM5B	1	177245380	Silent	SNP	T	TCGA-DX-A1L1-01A-11D-A24N-09	7735087	177245380	72005241	7	1726											
PIGR	5284	genome.wustl.edu	37	chr1	207110639	207110639	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcttccccagggtgttgacGaccacgtcacagttttcccc	8	16	2	1	rs142351595		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:207110639G>A	ENST00000356495.4	-	4	1029	c.846C>T	c.(844-846)gtC>gtT	p.V282V		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	282	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGTGTTGACGACCACGTCAC	0.597																																																	0								ENSG00000162896	G		0,4406		0,0,2203	80	77	78		846	3.8	0.8	1	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PIGR	NM_002644.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		282/765	207110639	2,13004	2203	4300	6503	PIGR	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.846C>T	1.37:g.207110639G>A		Somatic	0	43	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	Q68D81|Q8IZY7	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.V282	ENST00000356495.4	37	c.846	CCDS1474.1	1																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr		0.597	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	protein_coding	OTTHUMT00000088975.1	G	NM_002644	rs142351595		207110639	-1	no_errors	ENST00000356495	ensembl	human	known	74_37	silent	SNP	0.767	A	A	207110639	G	A	207110639	2	1	25	1	0	0	0	0	0	0	0	1	11899	1045	37	1		1	PIGR	1	207110639	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	29865259	207110639	42139982	8	1727											
USH2A	7399	genome.wustl.edu	37	chr1	215953333	215953333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcacttagggctgtgatGcttggtggcaggatgctctc	14	9	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:215953333G>T	ENST00000307340.3	-	55	11177	c.10791C>A	c.(10789-10791)agC>agA	p.S3597R	USH2A_ENST00000366943.2_Missense_Mutation_p.S3597R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3597	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGTGATGCTTGGTGGCA	0.488										HNSCC(13;0.011)																																							0								ENSG00000042781						129	106	114					1																	215953333		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10791C>A	1.37:g.215953333G>T	ENSP00000305941:p.Ser3597Arg	Somatic	0	28	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S3597R	ENST00000307340.3	37	c.10791	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	0.691	-0.794638	0.02862	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	5.79	-1.2	0.09554	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.966828	0.08491	N	0.938012	T	0.22322	0.0538	N	0.03238	-0.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	10	0.13853	T	0.58	.	3.9014	0.09162	0.0966:0.1198:0.3882:0.3954	.	3597	O75445	USH2A_HUMAN	R	3597	ENSP00000305941:S3597R;ENSP00000355910:S3597R	ENSP00000305941:S3597R	S	-	3	2	USH2A	214019956	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-0.190000	0.09615	-0.480000	0.06803	-0.265000	0.10407	AGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		215953333	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.000	T	T	215953333	G	T	215953333	3	4	25	1	0	0	0	0	1	0	0	0	17043	1310	46	3	4889	3	USH2A	1	215953333	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	8842694	215953333	33297288	9	1728											
ARF1	375	genome.wustl.edu	37	chr1	228285091	228285091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacatcagcttcactgtgtGggacgtgggtggccaggaca	15	9	2	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:228285091G>A	ENST00000541182.1	+	3	459	c.197G>A	c.(196-198)tGg>tAg	p.W66*	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Nonsense_Mutation_p.W66*|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Nonsense_Mutation_p.W66*	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	66					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)				TTCACTGTGTGGGACGTGGGT	0.617																																																	0								ENSG00000143761						93	90	91					1																	228285091		2203	4300	6503	ARF1	SO:0001587	stop_gained	0			-	HGNC	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.197G>A	1.37:g.228285091G>A	ENSP00000440005:p.Trp66*	Somatic	0	38	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	P10947|P32889	Nonsense_Mutation	SNP							pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W66*	ENST00000541182.1	37	c.197	CCDS1565.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.622174	0.96660	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	.	.	.	5.39	4.44	0.53790	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1881	16.3837	0.83490	0.0:0.1309:0.8691:0.0	.	.	.	.	X	66	.	ENSP00000272102:W66X	W	+	2	0	ARF1	226351714	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.575000	0.98187	2.809000	0.96659	0.467000	0.42956	TGG	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.617	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	protein_coding	OTTHUMT00000091650.1	G	NM_001024227	-		228285091	1	no_errors	ENST00000272102	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	228285091	G	A	228285091	4	1	25	1	0	0	0	0	0	1	0	0	844	1357	47	2	203	2	ARF1	1	228285091	Nonsense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	12331758	228285091	20965530	10	1729											
MATN3	4148	genome.wustl.edu	37	chr2	20205563	20205563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccccataggtctccacGtagaaaacatgctcctctag	7	13	2	2	rs371740669		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:20205563G>A	ENST00000407540.3	-	2	794	c.732C>T	c.(730-732)taC>taT	p.Y244Y	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Silent_p.Y244Y	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	244	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTCCACGTAGAAAACAT	0.493																																																	0								ENSG00000132031	G		1,3963		0,1,1981	28	31	30		732	-6.4	0.6	2		30	0,8326		0,0,4163	no	coding-synonymous	MATN3	NM_002381.4		0,1,6144	AA,AG,GG		0.0,0.0252,0.0081		244/487	20205563	1,12289	1982	4163	6145	MATN3	SO:0001819	synonymous_variant	0			-	HGNC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.732C>T	2.37:g.20205563G>A		Somatic	0	50	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85	B2CPU0|Q4ZG02	Silent	SNP							pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.Y244	ENST00000407540.3	37	c.732	CCDS46226.1	2																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	protein_coding	OTTHUMT00000323925.1	G	NM_002381	-		20205563	-1	no_errors	ENST00000407540	ensembl	human	known	74_37	silent	SNP	0.372	A	A	20205563	G	A	20205563	2	1	25	1	0	0	0	0	0	0	0	1	9337	1140	40	1		1	MATN3	2	20205563	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		20205563	222993810	11	1730											
C2orf43	60526	genome.wustl.edu	37	chr2	20939958	20939958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaagagcagaaaggcaCgaattacctgcaataaagaa	10	6	0	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:20939958C>T	ENST00000237822.3	-	5	555	c.476G>A	c.(475-477)cGt>cAt	p.R159H	C2orf43_ENST00000435420.2_Missense_Mutation_p.R111H|C2orf43_ENST00000381090.3_Missense_Mutation_p.R159H|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000403006.2_Missense_Mutation_p.R29H|C2orf43_ENST00000541941.1_Missense_Mutation_p.R29H	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	159										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAAAGGCACGAATTACCTG	0.378																																																	0								ENSG00000118961						80	77	78					2																	20939958		2203	4300	6503	C2orf43	SO:0001583	missense	0			-	HGNC	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.476G>A	2.37:g.20939958C>T	ENSP00000237822:p.Arg159His	Somatic	0	20	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP							pfam_DUF2305	p.R159H	ENST00000237822.3	37	c.476	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	C	6.264	0.416862	0.11870	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947;ENST00000412261	T;T;T;T	0.71934	0.88;1.47;0.88;-0.61	5.61	2.67	0.31697	.	0.170702	0.52532	N	0.000075	T	0.47154	0.1430	N	0.17474	0.49	0.32083	N	0.592878	B;B;B;B	0.21452	0.017;0.056;0.007;0.011	B;B;B;B	0.16722	0.016;0.016;0.013;0.013	T	0.41680	-0.9495	10	0.13853	T	0.58	-9.6733	6.6113	0.22753	0.0:0.5402:0.0:0.4598	.	117;111;159;159	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	H	29;159;159;111;29;29;111	ENSP00000384267:R29H;ENSP00000388635:R111H;ENSP00000440570:R29H;ENSP00000396911:R29H	ENSP00000237822:R159H	R	-	2	0	C2orf43	20803439	0.527000	0.26306	0.009000	0.14445	0.191000	0.23601	0.707000	0.25704	0.320000	0.23234	0.650000	0.86243	CGT	-	pfam_DUF2305		0.378	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	protein_coding	OTTHUMT00000242861.1	C	NM_021925	-		20939958	-1	no_errors	ENST00000237822	ensembl	human	known	74_37	missense	SNP	0.053	T	T	20939958	C	T	20939958	3	4	25	1	0	0	0	0	1	0	0	0	2169	536	19	1	513	1	C2orf43	2	20939958	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	734395	20939958	222259415	12	1731											
APOB	338	genome.wustl.edu	37	chr2	21249769	21249769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctttgttgacactgtctGggaaaaatccttgcttccca	8	10	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:21249769G>T	ENST00000233242.1	-	15	2262	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	APOB_ENST00000399256.4_Missense_Mutation_p.P712Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	712					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)					GACACTGTCTGGGAAAAATCC	0.413																																																	0								ENSG00000084674						112	110	110					2																	21249769		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.2135C>A	2.37:g.21249769G>T	ENSP00000233242:p.Pro712Gln	Somatic	0	11	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P712Q	ENST00000233242.1	37	c.2135	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998824	0.93227	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.14266	2.52;2.52	5.7	5.7	0.88788	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.068340	0.64402	D	0.000015	T	0.44767	0.1309	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.37220	-0.9715	10	0.66056	D	0.02	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	712	P04114	APOB_HUMAN	Q	712	ENSP00000233242:P712Q;ENSP00000382200:P712Q	ENSP00000233242:P712Q	P	-	2	0	APOB	21103274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.406000	0.97321	2.861000	0.98227	0.655000	0.94253	CCA	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G		-		21249769	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21249769	G	T	21249769	3	4	25	1	0	0	0	0	1	0	0	0	785	1348	47	3	11616	3	APOB	2	21249769	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	309811	21249769	221949604	13	1732											
C2orf77	129881	genome.wustl.edu	37	chr2	170502675	170502675	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttttgcttgctttgcAttaaacttatttttggccta	7	7	0	0	rs530914711	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:170502675A>C	ENST00000447353.1	-	9	1440	c.1335T>G	c.(1333-1335)aaT>aaG	p.N445K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	445																	CTTGCTTTGCATTAAACTTAT	0.323																																																	0								ENSG00000154479						183	179	180					2																	170502675		1819	4075	5894	CCDC173	SO:0001583	missense	0			-	HGNC	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1335T>G	2.37:g.170502675A>C	ENSP00000391504:p.Asn445Lys	Somatic	0	79	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	44	29.03	Q6PJF6	Missense_Mutation	SNP							NULL	p.N445K	ENST00000447353.1	37	c.1335	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	A	0.246	-1.010242	0.02095	.	.	ENSG00000154479	ENST00000447353	T	0.07688	3.17	5.72	0.103	0.14526	.	.	.	.	.	T	0.03608	0.0103	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.45160	-0.9280	9	0.05833	T	0.94	.	0.3693	0.00376	0.3239:0.212:0.1401:0.324	.	445	Q0VFZ6	CB077_HUMAN	K	445	ENSP00000391504:N445K	ENSP00000391504:N445K	N	-	3	2	C2orf77	170210921	0.009000	0.17119	0.590000	0.28732	0.909000	0.53808	0.024000	0.13555	-0.146000	0.11274	-0.250000	0.11733	AAT	-	NULL		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	protein_coding	OTTHUMT00000333954.2	A	NM_001085447	-		170502675	-1	no_errors	ENST00000447353	ensembl	human	known	74_37	missense	SNP	0.084	C	C	170502675	A	C	170502675	3	2	25	1	0	0	0	0	1	0	0	0	2196	214	8	5	327	5	C2orf77	2	170502675	Missense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	149252906	170502675	72696698	14	1733											
STRADB	55437	genome.wustl.edu	37	chr2	202344886	202344886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgaaaaagactcataCtgggaattctagggctgcca	10	9	2	3	rs146098224		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																																	0								ENSG00000082146						134	136	135					2																	202344886		2203	4300	6503	STRADB	SO:0001819	synonymous_variant	0			-	HGNC	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T		Somatic	0	40	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	Q5BKY7|Q9P1L0	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y415	ENST00000194530.3	37	c.1245	CCDS2348.1	2																																																																																			-	NULL		0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	protein_coding	OTTHUMT00000256297.1	C	NM_018571	rs146098224		202344886	1	no_errors	ENST00000194530	ensembl	human	known	74_37	silent	SNP	0.437	T	T	202344886	C	T	202344886	2	4	25	1	0	0	0	0	0	0	0	1	15332	576	20	2		2	STRADB	2	202344886	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	31842211	202344886	40854487	15	1734											
TRPM8	79054	genome.wustl.edu	37	chr2	234875370	234875370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcggtggaggccacagacCagcatttcatcgcccagcct	12	14	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:234875370C>A	ENST00000324695.4	+	15	2036	c.1996C>A	c.(1996-1998)Cag>Aag	p.Q666K	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q354K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	666					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)	GGCCACAGACCAGCATTTCAT	0.547																																																	0								ENSG00000144481						81	72	75					2																	234875370		2203	4300	6503	TRPM8	SO:0001583	missense	0			-	HGNC	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.1996C>A	2.37:g.234875370C>A	ENSP00000323926:p.Gln666Lys	Somatic	0	40	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.Q666K	ENST00000324695.4	37	c.1996	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149487	0.09185	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.58506	0.33;0.33;0.33	5.61	4.72	0.59763	.	0.103207	0.44285	D	0.000477	T	0.43612	0.1255	N	0.21240	0.645	0.38868	D	0.956628	B;B	0.23377	0.011;0.084	B;B	0.19148	0.005;0.024	T	0.34976	-0.9807	10	0.28530	T	0.3	-17.0901	14.9282	0.70896	0.1443:0.8557:0.0:0.0	.	354;666	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	K	666;354;37	ENSP00000323926:Q666K;ENSP00000404423:Q354K;ENSP00000414198:Q37K	ENSP00000323926:Q666K	Q	+	1	0	TRPM8	234540109	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.924000	0.48876	1.479000	0.48272	-0.182000	0.12963	CAG	-	NULL		0.547	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	protein_coding	OTTHUMT00000131005.4	C	NM_024080	-		234875370	1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	SNP	1.000	A	A	234875370	C	A	234875370	3	1	25	1	0	0	0	0	1	0	0	0	16599	595	21	3	2050	3	TRPM8	2	234875370	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	32530484	234875370	8324003	16	1735											
FLNB	2317	genome.wustl.edu	37	chr3	58120362	58120362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttcaaggtcaaggtcCttcccacatatgatgccagc	8	14	2	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:58120362C>T	ENST00000295956.4	+	27	4699	c.4534C>T	c.(4534-4536)Ctt>Ttt	p.L1512F	FLNB_ENST00000493452.1_Missense_Mutation_p.L1343F|FLNB_ENST00000419752.2_Missense_Mutation_p.L1343F|FLNB_ENST00000358537.3_Missense_Mutation_p.L1512F|FLNB_ENST00000357272.4_Missense_Mutation_p.L1512F|FLNB_ENST00000490882.1_Missense_Mutation_p.L1543F|FLNB_ENST00000429972.2_Missense_Mutation_p.L1512F|FLNB_ENST00000348383.5_Missense_Mutation_p.L1512F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1512					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTCAAGGTCCTTCCCACATA	0.493																																																	0								ENSG00000136068						201	188	192					3																	58120362		2203	4300	6503	FLNB	SO:0001583	missense	0			-	HGNC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4534C>T	3.37:g.58120362C>T	ENSP00000295956:p.Leu1512Phe	Somatic	0	67	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.L1512F	ENST00000295956.4	37	c.4534	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915833	0.73098	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-2.99;-3.02;-3.02;-3.02;-2.99;-3.02	5.81	5.81	0.92471	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.76838	2.35	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.98;0.996;0.998;0.998;0.998	D	0.94507	0.7715	10	0.40728	T	0.16	.	13.298	0.60309	0.0:0.928:0.0:0.072	.	1512;1543;1343;1343;1512;1512	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	F	1512;1543;1512;1512;1512;1512;1343;1343	ENSP00000295956:L1512F;ENSP00000420213:L1543F;ENSP00000351339:L1512F;ENSP00000415599:L1512F;ENSP00000232447:L1512F;ENSP00000349819:L1512F;ENSP00000418510:L1343F;ENSP00000414532:L1343F	ENSP00000295956:L1512F	L	+	1	0	FLNB	58095402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.674000	0.46867	2.738000	0.93877	0.655000	0.94253	CTT	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.493	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	C	NM_001457	-		58120362	1	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58120362	C	T	58120362	3	4	25	1	0	0	0	0	1	0	0	0	5936	681	24	2	4737	2	FLNB	3	58120362	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		58120362	139902068	17	1736											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64527528	64527528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacagttatagacattaCggcaggtttttcgttcttct	7	8	2	1	rs202044216		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:64527528C>T	ENST00000498707.1	-	33	5525	c.5183G>A	c.(5182-5184)cGt>cAt	p.R1728H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1700H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1728	TSP type-1 15. {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)		ATAGACATTACGGCAGGTTTT	0.413																																																	0								ENSG00000163638	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	147	143	144		5183	3.3	0.5	3		144	0,8600		0,0,4300	no	missense	ADAMTS9	NM_182920.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1728/1936	64527528	1,13005	2203	4300	6503	ADAMTS9	SO:0001583	missense	0			-	HGNC	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.5183G>A	3.37:g.64527528C>T	ENSP00000418735:p.Arg1728His	Somatic	0	74	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1728H	ENST00000498707.1	37	c.5183	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.049|4.049	0.006828|0.006828	0.07866|0.07866	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.59502|.	0.26;0.28|.	5.7|5.7	3.26|3.26	0.37387|0.37387	.|.	0.208186|.	0.42964|.	N|.	0.000640|.	T|T	0.26159|0.26159	0.0638|0.0638	N|N	0.02412|0.02412	-0.56|-0.56	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.04153|0.04153	-1.0973|-1.0973	10|5	0.02654|.	T|.	1|.	.|.	9.8378|9.8378	0.40980|0.40980	0.0:0.144:0.0:0.856|0.0:0.144:0.0:0.856	.|.	1700;1728|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	H|I	1700;1728|784	ENSP00000295903:R1700H;ENSP00000418735:R1728H|.	ENSP00000295903:R1700H|.	R|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64502568|64502568	0.991000|0.991000	0.36638|0.36638	0.492000|0.492000	0.27490|0.27490	0.428000|0.428000	0.31595|0.31595	2.429000|2.429000	0.44758|0.44758	0.407000|0.407000	0.25591|0.25591	-0.469000|-0.469000	0.05056|0.05056	CGT|GTA	-	pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.413	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	C		rs202044216		64527528	-1	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	SNP	0.894	T	T	64527528	C	T	64527528	3	4	25	1	0	0	0	0	1	0	0	0	273	536	19	1	652	1	ADAMTS9	3	64527528	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	6407166	64527528	133494902	18	1737											
DGKG	1608	genome.wustl.edu	37	chr3	185979537	185979537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcaccaagaccagcagggGgtgggtacccggggtgggga	19	9	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:185979537G>T	ENST00000265022.3	-	15	1839	c.1300C>A	c.(1300-1302)Ccc>Acc	p.P434T	DGKG_ENST00000344484.4_Missense_Mutation_p.P434T|DGKG_ENST00000544847.1_Missense_Mutation_p.P375T|DGKG_ENST00000382164.4_Missense_Mutation_p.P395T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	434	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGCAGGGGGTGGGTACCC	0.502																																																	0								ENSG00000058866						24	22	22					3																	185979537		2203	4300	6503	DGKG	SO:0001583	missense	0			-	HGNC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1300C>A	3.37:g.185979537G>T	ENSP00000265022:p.Pro434Thr	Somatic	0	18	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P434T	ENST00000265022.3	37	c.1300	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.089601	0.94149	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.44881	0.92;0.91;0.92;0.92	5.52	5.52	0.82312	Diacylglycerol kinase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	H	0.97291	3.975	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	0.86117	0.1566	10	0.87932	D	0	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	375;434;395;434	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	434;434;395;375;398	ENSP00000265022:P434T;ENSP00000339777:P434T;ENSP00000371599:P395T;ENSP00000440507:P375T	ENSP00000265022:P434T	P	-	1	0	DGKG	187462231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.706000	0.98722	2.590000	0.87494	0.563000	0.77884	CCC	-	smart_Diacylglycerol_kinase_cat_dom		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	protein_coding	OTTHUMT00000344800.3	G		-		185979537	-1	no_errors	ENST00000265022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	185979537	G	T	185979537	3	4	25	1	0	0	0	0	1	0	0	0	4471	1232	43	3	1119	3	DGKG	3	185979537	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	121452009	185979537	12042893	19	1738											
TLR1	7096	genome.wustl.edu	37	chr4	38798892	38798892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggaatggattgtcccctgCttttattgacctcatcttct	7	10	3	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:38798892C>A	ENST00000502213.2	-	3	1790	c.1561G>T	c.(1561-1563)Gca>Tca	p.A521S	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A521S			Q15399	TLR1_HUMAN	toll-like receptor 1	521					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTCCCCTGCTTTTATTGAC	0.428																																					GBM(5;216 373 40795 46382)												0								ENSG00000174125						194	202	199					4																	38798892		2203	4300	6503	TLR1	SO:0001583	missense	0			-	HGNC	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1561G>T	4.37:g.38798892C>A	ENSP00000421259:p.Ala521Ser	Somatic	0	98	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	99	11.61	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP							pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.A521S	ENST00000502213.2	37	c.1561	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479150	0.63849	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.18810	2.19;2.19	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000005	T	0.41096	0.1144	M	0.89287	3.02	0.42647	D	0.993434	D	0.61080	0.989	P	0.47251	0.542	T	0.58222	-0.7674	10	0.87932	D	0	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	521	Q15399	TLR1_HUMAN	S	521	ENSP00000354932:A521S;ENSP00000421259:A521S	ENSP00000354932:A521S	A	-	1	0	TLR1	38475287	0.999000	0.42202	0.759000	0.31340	0.919000	0.55068	4.579000	0.60936	2.636000	0.89361	0.650000	0.86243	GCA	-	pirsf_Toll-like_receptor		0.428	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	protein_coding	OTTHUMT00000360510.3	C		-		38798892	-1	no_errors	ENST00000308979	ensembl	human	known	74_37	missense	SNP	0.887	A	A	38798892	C	A	38798892	3	1	25	1	0	0	0	0	1	0	0	0	15956	797	28	3	803	3	TLR1	4	38798892	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		38798892	152355384	20	1739											
LRRC66	339977	genome.wustl.edu	37	chr4	52862055	52862055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacactgacaggcacaccGccagagccaggtcctgggga	13	13	0	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:52862055G>A	ENST00000343457.3	-	4	1139	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	378						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAGGCACACCGCCAGAGCCAG	0.567																																																	0								ENSG00000188993						40	43	42					4																	52862055		1981	4162	6143	LRRC66	SO:0001583	missense	0			-	HGNC	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1133C>T	4.37:g.52862055G>A	ENSP00000341944:p.Ala378Val	Somatic	0	45	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.67		Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A378V	ENST00000343457.3	37	c.1133	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283123	0.59867	.	.	ENSG00000188993	ENST00000343457	T	0.47177	0.85	4.67	4.67	0.58626	.	0.000000	0.45867	D	0.000335	T	0.65533	0.2700	M	0.63843	1.955	0.38985	D	0.95903	D	0.89917	1.0	D	0.91635	0.999	T	0.71220	-0.4657	10	0.87932	D	0	-15.966	14.6507	0.68794	0.0:0.0:1.0:0.0	.	378	Q68CR7	LRC66_HUMAN	V	378	ENSP00000341944:A378V	ENSP00000341944:A378V	A	-	2	0	LRRC66	52556812	1.000000	0.71417	0.731000	0.30826	0.188000	0.23474	6.117000	0.71577	2.306000	0.77630	0.467000	0.42956	GCG	-	NULL		0.567	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	protein_coding	OTTHUMT00000361473.1	G	NM_001024611	-		52862055	-1	no_errors	ENST00000343457	ensembl	human	known	74_37	missense	SNP	0.974	A	A	52862055	G	A	52862055	3	1	25	1	0	0	0	0	1	0	0	0	9020	1087	38	1	1513	1	LRRC66	4	52862055	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	14063163	52862055	138292221	21	1740											
ANKRD17	26057	genome.wustl.edu	37	chr4	73957313	73957313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgtggttgtgactgttGttgtggtggcattggatgtc	16	5	0	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:73957313G>T	ENST00000358602.4	-	29	6148	c.6032C>A	c.(6031-6033)aCa>aAa	p.T2011K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1760K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1898K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2011	Ser-rich.|Thr-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGACTGTTGTTGTGGTGGC	0.478																																																	0								ENSG00000132466						430	385	400					4																	73957313		2203	4300	6503	ANKRD17	SO:0001583	missense	0			-	HGNC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6032C>A	4.37:g.73957313G>T	ENSP00000351416:p.Thr2011Lys	Somatic	0	25	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.T2011K	ENST00000358602.4	37	c.6032	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802956	0.70682	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.65916	-0.18;-0.16;-0.15	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000004	T	0.66036	0.2749	L	0.29908	0.895	0.48236	D	0.99961	P;P;P;P	0.50819	0.939;0.939;0.9;0.9	P;P;P;P	0.53401	0.725;0.725;0.535;0.535	T	0.67841	-0.5566	10	0.72032	D	0.01	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	2010;1760;2011;1898	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	2011;1418;1760;1898;395	ENSP00000351416:T2011K;ENSP00000332265:T1760K;ENSP00000427151:T1898K	ENSP00000332265:T1760K	T	-	2	0	ANKRD17	74176177	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.570000	0.60872	2.814000	0.96858	0.585000	0.79938	ACA	-	NULL		0.478	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	G	NM_032217	-		73957313	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73957313	G	T	73957313	3	4	25	1	0	0	0	0	1	0	0	0	646	1377	48	3	1803	3	ANKRD17	4	73957313	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	21095258	73957313	117196963	22	1741											
GSTCD	79807	genome.wustl.edu	37	chr4	106763272	106763272	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacagctgtccagctcccAccccaacgaaggctcatagg	9	16	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:106763272A>T	ENST00000515279.1	+	11	1966	c.1746A>T	c.(1744-1746)ccA>ccT	p.P582P	GSTCD_ENST00000394728.3_Silent_p.P582P|GSTCD_ENST00000360505.5_Silent_p.P582P|GSTCD_ENST00000394730.3_Silent_p.P495P|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	582						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)		TCCAGCTCCCACCCCAACGAA	0.413																																																	0								ENSG00000138780						111	104	106					4																	106763272		1903	4133	6036	GSTCD	SO:0001819	synonymous_variant	0			-	HGNC	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.1746A>T	4.37:g.106763272A>T		Somatic	0	24	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Silent	SNP							pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.P582	ENST00000515279.1	37	c.1746	CCDS43257.1	4																																																																																			-	NULL		0.413	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	protein_coding	OTTHUMT00000363981.1	A	NM_024751	-		106763272	1	no_errors	ENST00000360505	ensembl	human	known	74_37	silent	SNP	0.729	T	T	106763272	A	T	106763272	2	4	25	1	0	0	0	0	0	0	0	1	6837	146	6	5		5	GSTCD	4	106763272	Silent	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	32805959	106763272	84391004	23	1742											
MMAA	166785	genome.wustl.edu	37	chr4	146575181	146575181	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataatcgagatggcagatctGgtagctgtaactaaatctga	10	6	2	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:146575181G>T	ENST00000281317.5	+	6	2065	c.855G>T	c.(853-855)ctG>ctT	p.L285L	MMAA_ENST00000541599.1_Silent_p.L4L	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	285					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCAGATCTGGTAGCTGTAA	0.403																																																	0								ENSG00000151611						207	201	203					4																	146575181		2203	4300	6503	MMAA	SO:0001819	synonymous_variant	0			-	HGNC	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.855G>T	4.37:g.146575181G>T		Somatic	0	41	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	B3KX40|Q495G7	Missense_Mutation	SNP							pfam_ArgK,superfamily_P-loop_NTPase	p.G257C	ENST00000281317.5	37	c.769	CCDS3766.1	4																																																																																			-	NULL		0.403	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	protein_coding	OTTHUMT00000364668.2	G		-		146575181	1	no_errors	ENST00000511969	ensembl	human	known	74_37	missense	SNP	1.000	T	T	146575181	G	T	146575181	2	4	25	1	0	0	0	0	0	0	0	1	9641	1335	47	3		3	MMAA	4	146575181	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	39811909	146575181	44579095	24	1743											
C5orf42	65250	genome.wustl.edu	37	chr5	37227105	37227105	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tactacacagcacatcatctCttttgttccaaaaaggacat	4	11	2	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:37227105C>G	ENST00000508244.1	-	11	1685	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.R531T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	531						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CACATCATCTCTTTTGTTCCA	0.368																																																	0								ENSG00000197603						27	20	22					5																	37227105		691	1590	2281	C5orf42	SO:0001583	missense	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.1592G>C	5.37:g.37227105C>G	ENSP00000421690:p.Arg531Thr	Somatic	0	30	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP							superfamily_Quino_amine_DH_bsu	p.R531T	ENST00000508244.1	37	c.1592	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	3.687	-0.064334	0.07273	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.23147	1.92;1.92	4.63	2.16	0.27623	.	0.385392	0.24209	U	0.040543	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	0.999996	B	0.32160	0.358	B	0.29716	0.106	T	0.15263	-1.0443	10	0.54805	T	0.06	.	6.5825	0.22602	0.0:0.397:0.0:0.603	.	531	E9PH94	.	T	531	ENSP00000421690:R531T;ENSP00000389014:R531T	ENSP00000389014:R531T	R	-	2	0	C5orf42	37262862	0.355000	0.24921	0.000000	0.03702	0.579000	0.36224	1.221000	0.32503	0.160000	0.19432	0.313000	0.20887	AGA	-	NULL		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	C	NM_023073	-		37227105	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	SNP	0.001	G	G	37227105	C	G	37227105	3	3	25	1	0	0	0	0	1	0	0	0	2303	913	32	4	8165	4	C5orf42	5	37227105	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		37227105	143688155	25	1744											
CHD1	1105	genome.wustl.edu	37	chr5	98236915	98236915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggttttctgcttttgaCtttgttttttggctcataat	8	5	2	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:98236915C>A	ENST00000284049.3	-	5	711	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	188					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTGCTTTTGACTTTGTTTTTT	0.348																																																	0								ENSG00000153922						212	201	205					5																	98236915		2203	4300	6503	CHD1	SO:0001583	missense	0			-	HGNC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.562G>T	5.37:g.98236915C>A	ENSP00000284049:p.Val188Phe	Somatic	0	52	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	103	8.04	Q17RZ3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V188F	ENST00000284049.3	37	c.562	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323230	0.60634	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.89939	-2.59	5.76	4.0	0.46444	.	0.000000	0.30639	U	0.009192	D	0.87059	0.6083	L	0.36672	1.1	0.48830	D	0.999713	D	0.56287	0.975	P	0.50754	0.649	D	0.86389	0.1734	10	0.56958	D	0.05	.	11.4402	0.50092	0.0:0.8762:0.0:0.1238	.	188	O14646	CHD1_HUMAN	F	188	ENSP00000284049:V188F	ENSP00000284049:V188F	V	-	1	0	CHD1	98264815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.558000	0.45879	0.906000	0.36621	0.650000	0.86243	GTC	-	NULL		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	protein_coding	OTTHUMT00000370295.1	C	NM_001270	-		98236915	-1	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98236915	C	A	98236915	3	1	25	1	0	0	0	0	1	0	0	0	3325	565	20	3	4694	3	CHD1	5	98236915	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	61009810	98236915	82678345	26	1745											
PSD2	84249	genome.wustl.edu	37	chr5	139197095	139197095	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggctggtggccggggAgtacctcagtttcttcgact	14	10	2	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:139197095A>T	ENST00000274710.3	+	5	1251	c.1046A>T	c.(1045-1047)gAg>gTg	p.E349V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	349	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCGGGGAGTACCTCAGT	0.572																																																	0								ENSG00000146005						96	89	91					5																	139197095		2203	4300	6503	PSD2	SO:0001583	missense	0			-	HGNC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1046A>T	5.37:g.139197095A>T	ENSP00000274710:p.Glu349Val	Somatic	0	71	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	119	8.40	D3DQD3|Q8N3J8	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.E349V	ENST00000274710.3	37	c.1046	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	a	25.8	4.675403	0.88445	.	.	ENSG00000146005	ENST00000274710	T	0.57907	0.37	4.5	4.5	0.54988	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	H	0.94503	3.545	0.80722	D	1	P	0.45348	0.856	P	0.58660	0.843	D	0.83994	0.0339	10	0.87932	D	0	.	14.1354	0.65284	1.0:0.0:0.0:0.0	.	349	Q9BQI7	PSD2_HUMAN	V	349	ENSP00000274710:E349V	ENSP00000274710:E349V	E	+	2	0	PSD2	139177279	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.756000	0.91651	1.794000	0.52575	0.378000	0.23410	GAG	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.572	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	protein_coding	OTTHUMT00000251339.1	A	NM_032289	-		139197095	1	no_errors	ENST00000274710	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139197095	A	T	139197095	3	4	25	1	0	0	0	0	1	0	0	0	12652	304	11	5	1060	5	PSD2	5	139197095	Missense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	40960180	139197095	41718165	27	1746											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531234	140531234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagaacaacagccccgccCtgcacatcggcagcgtcagc	11	17	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:140531234C>T	ENST00000231136.1	+	1	1396	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	PCDHB6_ENST00000543635.1_Silent_p.L330L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	466	Cadherin 5. {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)			CAGCCCCGCCCTGCACATCGG	0.637																																																	0								ENSG00000113211						83	94	90					5																	140531234		2203	4298	6501	PCDHB6	SO:0001819	synonymous_variant	0			-	HGNC	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.1396C>T	5.37:g.140531234C>T		Somatic	0	108	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	191	16.23	B2R8R9	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L466	ENST00000231136.1	37	c.1396	CCDS4248.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.637	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	C	NM_018939	-		140531234	1	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	SNP	0.198	T	T	140531234	C	T	140531234	2	4	25	1	0	0	0	0	0	0	0	1	11548	680	24	2		2	PCDHB6	5	140531234	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	1334139	140531234	40384026	28	1747											
SOX30	11063	genome.wustl.edu	37	chr5	157075723	157075723	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttcatcgtaatagggtttCttttgttcttcactaagttt	7	7	4	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:157075723C>A	ENST00000265007.6	-	2	1490	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	SOX30_ENST00000519442.1_Missense_Mutation_p.K78N|SOX30_ENST00000311371.5_Missense_Mutation_p.K383N	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	383					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATAGGGTTTCTTTTGTTCTT	0.393																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0								ENSG00000039600						228	245	239					5																	157075723		2203	4300	6503	SOX30	SO:0001583	missense	0			-	HGNC	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1149G>T	5.37:g.157075723C>A	ENSP00000265007:p.Lys383Asn	Somatic	0	52	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	90	22.41	O94995|Q8IYX6	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K383N	ENST00000265007.6	37	c.1149	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685950	0.68157	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.99515	-6.06;-6.06;-6.06	5.67	5.67	0.87782	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.97758	4.07	0.42518	D	0.992993	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.83275	0.981;0.986;0.996	D	0.97869	1.0285	10	0.87932	D	0	.	11.1967	0.48717	0.0:0.8579:0.0:0.1421	.	78;383;383	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	N	383;383;78	ENSP00000309343:K383N;ENSP00000265007:K383N;ENSP00000427984:K78N	ENSP00000265007:K383N	K	-	3	2	SOX30	157008301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.729000	0.38115	2.665000	0.90641	0.555000	0.69702	AAG	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.393	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	protein_coding	OTTHUMT00000252571.2	C	NM_007017	-		157075723	-1	no_errors	ENST00000265007	ensembl	human	known	74_37	missense	SNP	1.000	A	A	157075723	C	A	157075723	3	1	25	1	0	0	0	0	1	0	0	0	14960	912	32	3	1128	3	SOX30	5	157075723	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	16544489	157075723	23839537	29	1748											
HRH2	3274	genome.wustl.edu	37	chr5	175112423	175112423	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacagaccatggctttGccttccagaatgctggtctg	9	13	1	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:175112423G>T	ENST00000231683.2	+	0	3095				HRH2_ENST00000377291.2_Missense_Mutation_p.C363F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2						digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CCATGGCTTTGCCTTCCAGAA	0.423																																																	0								ENSG00000113749						146	123	130					5																	175112423		692	1591	2283	HRH2	SO:0001628	intergenic_variant	0			-	HGNC		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660		5.37:g.175112423G>T		Somatic	0	25	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	45	16.67	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.C363F	ENST00000231683.2	37	c.1088	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	5.389	0.256967	0.10239	.	.	ENSG00000113749	ENST00000377291	T	0.64260	-0.09	2.77	0.909	0.19332	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.39035	-0.9633	8	0.56958	D	0.05	.	5.1863	0.15185	0.2906:0.0:0.7094:0.0	.	363	Q7Z5R9	.	F	363	ENSP00000366506:C363F	ENSP00000366506:C363F	C	+	2	0	HRH2	175045029	0.006000	0.16342	0.009000	0.14445	0.636000	0.38137	0.612000	0.24283	0.223000	0.20920	0.491000	0.48974	TGC	-	NULL		0.423	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	protein_coding	OTTHUMT00000253151.1	G		-		175112423	1	no_errors	ENST00000377291	ensembl	human	known	74_37	missense	SNP	0.009	T	T	175112423	G	T	175112423	1	4	25	0	1	0	0	0	0	0	0	0	7358	1319	46	3		3	HRH2	5	175112423	IGR	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	18036700	175112423	5802837	30	1749											
PGK2	5232	genome.wustl.edu	37	chr6	49754699	49754699	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaggcatgggaacaccatCaggccgacctagatgactca	11	12	3	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr6:49754699C>A	ENST00000304801.3	-	1	354	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	68					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGAACACCATCAGGCCGACCT	0.488																																																	0								ENSG00000170950						190	158	169					6																	49754699		2203	4300	6503	PGK2	SO:0001583	missense	0			-	HGNC	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.202G>T	6.37:g.49754699C>A	ENSP00000305995:p.Asp68Tyr	Somatic	0	55	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	B2R6Y8|Q9H107	Missense_Mutation	SNP							pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.D68Y	ENST00000304801.3	37	c.202	CCDS4930.1	6	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702953	0.68501	.	.	ENSG00000170950	ENST00000304801	D	0.92249	-3.0	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95895	0.8910	10	0.87932	D	0	-30.2176	14.5839	0.68310	0.0:1.0:0.0:0.0	.	68	P07205	PGK2_HUMAN	Y	68	ENSP00000305995:D68Y	ENSP00000305995:D68Y	D	-	1	0	PGK2	49862658	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.066000	0.76734	2.562000	0.86427	0.585000	0.79938	GAT	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase		0.488	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	protein_coding	OTTHUMT00000040872.1	C		-		49754699	-1	no_errors	ENST00000304801	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49754699	C	A	49754699	3	1	25	1	0	0	0	0	1	0	0	0	11793	826	29	3	1055	3	PGK2	6	49754699	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		49754699	121360368	31	1750											
BAI3	577	genome.wustl.edu	37	chr6	69943233	69943233	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtaaaactgtgcttacCgatgcatcccatacgaaatg	9	9	0	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr6:69943233C>A	ENST00000370598.1	+	18	3353	c.2532C>A	c.(2530-2532)acC>acA	p.T844T	BAI3_ENST00000238918.8_Silent_p.T50T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	844	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTGCTTACCGATGCATCCC	0.483																																																	0								ENSG00000135298						204	182	189					6																	69943233		2203	4300	6503	BAI3	SO:0001819	synonymous_variant	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2532C>A	6.37:g.69943233C>A		Somatic	0	62	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T844	ENST00000370598.1	37	c.2532	CCDS4968.1	6																																																																																			-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.483	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	C		-		69943233	1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	SNP	1.000	A	A	69943233	C	A	69943233	2	1	25	1	0	0	0	0	0	0	0	1	1300	639	23	3		3	BAI3	6	69943233	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	20188534	69943233	101171834	32	1751											
GPR6	2830	genome.wustl.edu	37	chr6	110300822	110300822	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggtggaccgctacctgtcCctgtataacgcgctcaccta	9	15	1	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr6:110300822C>G	ENST00000275169.3	+	1	525	c.507C>G	c.(505-507)tcC>tcG	p.S169S	GPR6_ENST00000414000.2_Silent_p.S184S	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	169					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)		GCTACCTGTCCCTGTATAACG	0.652																																																	0								ENSG00000146360						76	76	76					6																	110300822		2203	4300	6503	GPR6	SO:0001819	synonymous_variant	0			-	HGNC		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.507C>G	6.37:g.110300822C>G		Somatic	0	38	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn	p.S184	ENST00000275169.3	37	c.552	CCDS5079.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn		0.652	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR6	protein_coding	OTTHUMT00000041774.1	C		-		110300822	1	no_errors	ENST00000414000	ensembl	human	known	74_37	silent	SNP	0.895	G	G	110300822	C	G	110300822	2	3	25	1	0	0	0	0	0	0	0	1	6703	610	22	4		4	GPR6	6	110300822	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	40357589	110300822	60814245	33	1752											
DNAH11	8701	genome.wustl.edu	37	chr7	21788256	21788256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctcttggttggagttGggggcagtggcaagcagagc	18	7	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:21788256G>T	ENST00000409508.3	+	52	8600	c.8569G>T	c.(8569-8571)Ggg>Tgg	p.G2857W	DNAH11_ENST00000328843.6_Missense_Mutation_p.G2864W	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2864	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						GGTTGGAGTTGGGGGCAGTGG	0.547									Kartagener syndrome																																								0								ENSG00000105877						69	72	71					7																	21788256		1976	4156	6132	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.8569G>T	7.37:g.21788256G>T	ENSP00000475939:p.Gly2857Trp	Somatic	0	41	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G2864W	ENST00000409508.3	37	c.8590		7	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803399	0.70682	.	.	ENSG00000105877	ENST00000328843	T	0.40476	1.03	5.95	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.044949	0.85682	D	0.000000	T	0.66645	0.2810	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72347	-0.4321	9	0.87932	D	0	.	14.8948	0.70636	0.0683:0.0:0.9317:0.0	.	2864	Q96DT5	DYH11_HUMAN	W	2864	ENSP00000330671:G2864W	ENSP00000330671:G2864W	G	+	1	0	DNAH11	21754781	1.000000	0.71417	0.882000	0.34594	0.470000	0.32858	9.716000	0.98752	1.516000	0.48900	0.650000	0.86243	GGG	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.547	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	G	NM_003777	-		21788256	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	0.999	T	T	21788256	G	T	21788256	3	4	25	1	0	0	0	0	1	0	0	0	4601	1348	47	3	8797	3	DNAH11	7	21788256	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		21788256	137350407	34	1753											
CACNA2D1	781	genome.wustl.edu	37	chr7	81643716	81643716	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaaaacagatttgttaCctttgttttcacaggccatc	7	8	1	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:81643716C>T	ENST00000356253.5	-	13	1478		c.e13+1		CACNA2D1_ENST00000464354.1_Splice_Site|CACNA2D1_ENST00000356860.3_Splice_Site|MIR1255B1_ENST00000439234.1_RNA|MIR1255B1_ENST00000454066.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGATTTGTTACCTTTGTTTTC	0.313																																																	0								ENSG00000153956						68	66	66					7																	81643716		2203	4300	6503	CACNA2D1	SO:0001630	splice_region_variant	0			-	HGNC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1222+1G>A	7.37:g.81643716C>T		Somatic	0	52	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	SNP							-	e13+1	ENST00000356253.5	37	c.1222+1		7	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748291	0.69533	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5849	0.87978	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D1	81481652	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.647000	0.67923	2.451000	0.82905	0.305000	0.20034	.	-	-		0.313	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	protein_coding		C		-	Intron	81643716	-1	no_errors	ENST00000356253	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	81643716	C	T	81643716	5	4	25	1	0	0	0	0	0	0	1	0	2550	521	18	2	2160	2	CACNA2D1	7	81643716	Splice_Site	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	59855460	81643716	77494947	35	1754											
GRM3	2913	genome.wustl.edu	37	chr7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaactcagtgataagtcgCgctatgattactttgccagg	9	10	1	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					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)	p.R183C(1)		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)					TGATAAGTCGCGCTATGATTA	0.562																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	pancreas(1)						ENSG00000198822						134	129	131					7																	86415655		2203	4300	6503	GRM3	SO:0001583	missense	0			-	HGNC		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.547C>T	7.37:g.86415655C>T	ENSP00000355316:p.Arg183Cys	Somatic	0	51	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	59	35.16	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R183C	ENST00000361669.2	37	c.547	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837511	0.91117	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.93808	3.46	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	0.95413	0.8500	10	0.87932	D	0	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	55;183;183	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	183;55;55;183;181	ENSP00000355316:R183C;ENSP00000405427:R55C;ENSP00000441407:R55C;ENSP00000398767:R183C;ENSP00000378209:R181C	ENSP00000355316:R183C	R	+	1	0	GRM3	86253591	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.667000	0.61561	2.770000	0.95276	0.655000	0.94253	CGC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.562	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	C		-		86415655	1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86415655	C	T	86415655	3	4	25	1	0	0	0	0	1	0	0	0	6800	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	4771939	86415655	72723008	36	1755											
DNAJB9	4189	genome.wustl.edu	37	chr7	108213494	108213494	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttatttaaagactttggCttttttggtcaaaaccaaaa	6	6	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:108213494C>A	ENST00000249356.3	+	3	915	c.369C>A	c.(367-369)ggC>ggA	p.G123G	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	123					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						AAGACTTTGGCTTTTTTGGTC	0.388																																																	0								ENSG00000128590						93	89	91					7																	108213494		2203	4300	6503	DNAJB9	SO:0001819	synonymous_variant	0			-	HGNC	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.369C>A	7.37:g.108213494C>A		Somatic	0	27	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85		Silent	SNP							pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G123	ENST00000249356.3	37	c.369	CCDS5752.1	7																																																																																			-	NULL		0.388	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB9	protein_coding	OTTHUMT00000337414.1	C		-		108213494	1	no_errors	ENST00000249356	ensembl	human	known	74_37	silent	SNP	0.993	A	A	108213494	C	A	108213494	2	1	25	1	0	0	0	0	0	0	0	1	4629	784	28	3		3	DNAJB9	7	108213494	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	21797839	108213494	50925169	37	1756											
CFTR	1080	genome.wustl.edu	37	chr7	117175332	117175332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacatttcgtgtggatcGctcctttgcaagtggcactc	11	11	0	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:117175332G>A	ENST00000003084.6	+	6	742	c.610G>A	c.(610-612)Gct>Act	p.A204T	CFTR_ENST00000454343.1_Missense_Mutation_p.A204T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	204	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CGTGTGGATCGCTCCTTTGCA	0.458									Cystic Fibrosis																																								0								ENSG00000001626						225	203	210					7																	117175332		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.610G>A	7.37:g.117175332G>A	ENSP00000003084:p.Ala204Thr	Somatic	0	115	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.A204T	ENST00000003084.6	37	c.610	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288342	0.23478	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89270	-2.49;-2.49;-2.49	5.52	4.63	0.57726	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.206667	0.51477	D	0.000095	D	0.83839	0.5341	L	0.31752	0.955	0.27189	N	0.960463	B	0.21905	0.062	B	0.24155	0.051	T	0.74711	-0.3573	10	0.44086	T	0.13	-2.9439	15.8537	0.78956	0.0:0.0:0.8636:0.1364	.	204	P13569	CFTR_HUMAN	T	204;204;174	ENSP00000003084:A204T;ENSP00000403677:A204T;ENSP00000389119:A174T	ENSP00000003084:A204T	A	+	1	0	CFTR	116962568	1.000000	0.71417	0.614000	0.29051	0.030000	0.12068	4.798000	0.62510	1.307000	0.44944	0.650000	0.86243	GCT	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel		0.458	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	G	NM_000492	-		117175332	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	0.969	A	A	117175332	G	A	117175332	3	1	25	1	0	0	0	0	1	0	0	0	3296	1087	38	1	632	1	CFTR	7	117175332	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	8961838	117175332	41963331	38	1757											
PAX4	5078	genome.wustl.edu	37	chr7	127253883	127253883	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggtccctgggtgggtaccCcggggagtctcagagccact	15	14	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:127253883C>A	ENST00000341640.2	-	4	670	c.465G>T	c.(463-465)cgG>cgT	p.R155R	PAX4_ENST00000338516.3_Silent_p.R163R|PAX4_ENST00000378740.2_Silent_p.R155R|PAX4_ENST00000463946.1_Silent_p.R153R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	163					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTGGGTACCCCGGGGAGTCT	0.572																																					Ovarian(113;737 1605 7858 27720 34092)												0								ENSG00000106331						71	68	69					7																	127253883		2203	4300	6503	PAX4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.465G>T	7.37:g.127253883C>A		Somatic	0	53	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	78	19.59	O95161|Q6B0H0	Silent	SNP							pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.R155	ENST00000341640.2	37	c.465	CCDS5797.1	7																																																																																			-	superfamily_Homeodomain-like		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	protein_coding	OTTHUMT00000349165.1	C		-		127253883	-1	no_errors	ENST00000341640	ensembl	human	known	74_37	silent	SNP	0.998	A	A	127253883	C	A	127253883	2	1	25	1	0	0	0	0	0	0	0	1	11483	610	22	3		3	PAX4	7	127253883	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	10078551	127253883	31884780	39	1758											
NOS3	4846	genome.wustl.edu	37	chr7	150710438	150710438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttggccgagtcctcaccGccttctcccgggaacctgac	10	16	2	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:150710438G>T	ENST00000297494.3	+	25	3583	c.3226G>T	c.(3226-3228)Gcc>Tcc	p.A1076S	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.A870S|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCTCACCGCCTTCTCCCG	0.627											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000164867						58	54	55					7																	150710438		2203	4300	6503	NOS3	SO:0001583	missense	0			-	HGNC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3226G>T	7.37:g.150710438G>T	ENSP00000297494:p.Ala1076Ser	Somatic	0	62	0	1734	0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	72	17.24	Q495E5	Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A1076S	ENST00000297494.3	37	c.3226	CCDS5912.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.117092	0.94385	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.81078	-1.45;-1.45	4.18	4.18	0.49190	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.64402	D	0.000012	D	0.90772	0.7103	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.92649	0.6131	10	0.87932	D	0	-8.9076	14.3911	0.66978	0.0:0.0:1.0:0.0	.	870;1076	E7ESA7;P29474	.;NOS3_HUMAN	S	1076;870	ENSP00000297494:A1076S;ENSP00000417143:A870S	ENSP00000297494:A1076S	A	+	1	0	NOS3	150341371	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.629000	0.98417	2.323000	0.78572	0.484000	0.47621	GCC	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk		0.627	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000350750.2	G	NM_000603	-		150710438	1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150710438	G	T	150710438	3	4	25	1	0	0	0	0	1	0	0	0	10546	1087	38	3	3602	3	NOS3	7	150710438	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	23456555	150710438	8428225	40	1759											
TRPS1	7227	genome.wustl.edu	37	chr8	116616855	116616855	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaactacaaaatttacaccaGtagtaactggtggcctctgt	7	9	1	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr8:116616855G>C	ENST00000220888.5	-	3	1461	c.1302C>G	c.(1300-1302)taC>taG	p.Y434*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.Y438*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.Y447*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.Y434*|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	434					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTACACCAGTAGTAACTGG	0.473									Langer-Giedion syndrome																																								0								ENSG00000104447						64	63	63					8																	116616855		1904	4130	6034	TRPS1	SO:0001587	stop_gained	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	-	HGNC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1302C>G	8.37:g.116616855G>C	ENSP00000220888:p.Tyr434*	Somatic	0	41	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP							pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Y447*	ENST00000220888.5	37	c.1341		8	.	.	.	.	.	.	.	.	.	.	G	37	6.634937	0.97722	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.836	0.70183	0.0689:0.0:0.9311:0.0	.	.	.	.	X	447;434;438;434	.	ENSP00000220888:Y434X	Y	-	3	2	TRPS1	116686030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.217000	0.58547	1.540000	0.49301	0.655000	0.94253	TAC	-	smart_Znf_C2H2-like		0.473	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	protein_coding	OTTHUMT00000286436.3	G	NM_014112	-		116616855	-1	no_errors	ENST00000395715	ensembl	human	known	74_37	nonsense	SNP	1.000	C	C	116616855	G	C	116616855	4	2	25	1	0	0	0	0	0	1	0	0	16600	1024	36	4	2559	4	TRPS1	8	116616855	Nonsense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		116616855	29747167	41	1760											
REXO4	57109	genome.wustl.edu	37	chr9	136272155	136272155	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgctctcccactccttcttCaccatgacgtacagcctcat	4	17	4	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr9:136272155C>T	ENST00000371942.3	-	8	1390	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	REXO4_ENST00000371935.2_Silent_p.V225V	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	397					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ACTCCTTCTTCACCATGACGT	0.607											OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000148300						168	127	141					9																	136272155		2203	4300	6503	REXO4	SO:0001819	synonymous_variant	0			-	HGNC	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.1191G>A	9.37:g.136272155C>T		Somatic	0	51	0	1624	0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	53	57.26	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.V397	ENST00000371942.3	37	c.1191	CCDS6969.1	9	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255185	0.39896	.	.	ENSG00000148300	ENST00000453165	T	0.21932	1.98	5.45	1.2	0.21068	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07712	-1.0758	6	0.87932	D	0	.	3.1641	0.06530	0.1419:0.5673:0.1373:0.1535	.	.	.	.	K	353	ENSP00000403272:E353K	ENSP00000403272:E353K	E	-	1	0	REXO4	135261976	0.994000	0.37717	0.975000	0.42487	0.764000	0.43329	0.353000	0.20130	0.231000	0.21079	0.561000	0.74099	GAA	-	superfamily_RNaseH-like_dom,smart_Exonuclease		0.607	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	protein_coding	OTTHUMT00000054899.1	C		-		136272155	-1	no_errors	ENST00000371942	ensembl	human	known	74_37	silent	SNP	1.000	T	T	136272155	C	T	136272155	2	4	25	1	0	0	0	0	0	0	0	1	13251	813	29	2		2	REXO4	9	136272155	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		136272155	4941276	42	1761											
REXO4	57109	genome.wustl.edu	37	chr9	136272961	136272961	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgcctgctggacctggagCccaaggatcttctctgaaag	11	13	2	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr9:136272961C>A	ENST00000371942.3	-	7	1318	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	REXO4_ENST00000371935.2_Silent_p.G201G	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	373	Exonuclease.				regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GGACCTGGAGCCCAAGGATCT	0.597																																																	0								ENSG00000148300						75	57	63					9																	136272961		2203	4300	6503	REXO4	SO:0001819	synonymous_variant	0			-	HGNC	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.1119G>T	9.37:g.136272961C>A		Somatic	0	40	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	97	110	46.86	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.G373	ENST00000371942.3	37	c.1119	CCDS6969.1	9																																																																																			-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.597	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	protein_coding	OTTHUMT00000054899.1	C		-		136272961	-1	no_errors	ENST00000371942	ensembl	human	known	74_37	silent	SNP	0.013	A	A	136272961	C	A	136272961	2	1	25	1	0	0	0	0	0	0	0	1	13251	726	26	3		3	REXO4	9	136272961	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	806	136272961	4940470	43	1762											
PRKCQ	5588	genome.wustl.edu	37	chr10	6540493	6540493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagcaaagaagccttccGtctcaaattcattcatgtcc	6	12	3	1	rs374126448		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:6540493G>A	ENST00000263125.5	-	5	506	c.407C>T	c.(406-408)aCg>aTg	p.T136M	PRKCQ_ENST00000397176.2_Missense_Mutation_p.T136M|PRKCQ_ENST00000539722.1_Missense_Mutation_p.T11M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	136					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GAAGCCTTCCGTCTCAAATTC	0.517																																					Ovarian(50;572 1126 10530 25349 30594)												0								ENSG00000065675	G	MET/THR,MET/THR	1,4405		0,1,2202	159	135	143		407,407	1.6	0	10		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRKCQ	NM_001242413.1,NM_006257.3	81,81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	136/644,136/707	6540493	2,13004	2203	4300	6503	PRKCQ	SO:0001583	missense	0			-	HGNC	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.407C>T	10.37:g.6540493G>A	ENSP00000263125:p.Thr136Met	Somatic	0	63	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T136M	ENST00000263125.5	37	c.407	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171790	0.06421	2.27E-4	1.16E-4	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.68765	-0.35;-0.29;-0.34	5.62	1.6	0.23607	.	0.574935	0.18767	N	0.131716	T	0.54464	0.1860	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.12156	0.007;0.002;0.003	T	0.46233	-0.9206	10	0.46703	T	0.11	.	11.3015	0.49309	0.0626:0.0:0.3362:0.6012	.	11;136;136	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	M	136;136;11	ENSP00000263125:T136M;ENSP00000380361:T136M;ENSP00000441752:T11M	ENSP00000263125:T136M	T	-	2	0	PRKCQ	6580499	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	-0.204000	0.09425	0.028000	0.15324	-0.126000	0.14955	ACG	-	pirsf_Prot_kin_PKC_delta		0.517	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	protein_coding	OTTHUMT00000046665.1	G	NM_006257	-		6540493	-1	no_errors	ENST00000263125	ensembl	human	known	74_37	missense	SNP	0.000	A	A	6540493	G	A	6540493	3	1	25	1	0	0	0	0	1	0	0	0	12520	1145	40	1	1769	1	PRKCQ	10	6540493	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		6540493	128994254	44	1763											
CHAT	1103	genome.wustl.edu	37	chr10	50827797	50827797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaactgcccgtgcccccGctgcagcagaccctggccac	9	21	0	1	rs199675090		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:50827797G>A	ENST00000337653.2	+	3	567	c.414G>A	c.(412-414)ccG>ccA	p.P138P	CHAT_ENST00000351556.3_Silent_p.P20P|CHAT_ENST00000395562.2_Silent_p.P56P|CHAT_ENST00000455728.2_Silent_p.P20P|CHAT_ENST00000339797.1_Silent_p.P20P|CHAT_ENST00000395559.2_Silent_p.P20P|CHAT_ENST00000460699.1_3'UTR	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	138					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCGTGCCCCCGCTGCAGCAGA	0.607																																																	0								ENSG00000070748	G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	51	42	45		60,168,60,414,60,60,60	-10.2	0	10		45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	20/631,56/667,20/631,138/749,20/631,20/631,20/631	50827797	1,13005	2203	4300	6503	CHAT	SO:0001819	synonymous_variant	0			-	HGNC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.414G>A	10.37:g.50827797G>A		Somatic	0	40	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP							pfam_Carn_acyl_trans	p.P138	ENST00000337653.2	37	c.414	CCDS7232.1	10																																																																																			-	pfam_Carn_acyl_trans		0.607	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	protein_coding	OTTHUMT00000047997.1	G	NM_020549	rs199675090		50827797	1	no_errors	ENST00000337653	ensembl	human	known	74_37	silent	SNP	0.008	A	A	50827797	G	A	50827797	2	1	25	1	0	0	0	0	0	0	0	1	3315	1074	38	1		1	CHAT	10	50827797	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	44287304	50827797	84706950	45	1764											
FAM190B	54462	genome.wustl.edu	37	chr10	86223768	86223768	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagatggtgataaagtatAtaaggtatgactatgtagtc	11	2	0	4			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:86223768A>T	ENST00000224756.8	+	7	2329	c.2144A>T	c.(2143-2145)tAt>tTt	p.Y715F	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y142F|CCSER2_ENST00000372088.2_Missense_Mutation_p.Y715F	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	715					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GATAAAGTATATAAGGTATGA	0.308																																																	0								ENSG00000107771						111	99	103					10																	86223768		2203	4300	6503	CCSER2	SO:0001583	missense	0			-	HGNC		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2144A>T	10.37:g.86223768A>T	ENSP00000224756:p.Tyr715Phe	Somatic	0	60	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP							NULL	p.Y715F	ENST00000224756.8	37	c.2144	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114812	0.56505	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.22539	2.3;2.27;1.95	5.57	3.17	0.36434	.	0.617891	0.15686	N	0.249650	T	0.16642	0.0400	L	0.51422	1.61	0.22500	N	0.99904	B;B	0.30281	0.275;0.062	B;B	0.27076	0.076;0.076	T	0.24941	-1.0146	10	0.49607	T	0.09	-1.5932	3.7382	0.08518	0.6712:0.0:0.1696:0.1591	.	715;715	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	F	715;715;142	ENSP00000224756:Y715F;ENSP00000361160:Y715F;ENSP00000439944:Y142F	ENSP00000224756:Y715F	Y	+	2	0	FAM190B	86213748	0.312000	0.24545	0.426000	0.26672	0.776000	0.43924	0.762000	0.26503	0.363000	0.24346	0.528000	0.53228	TAT	-	NULL		0.308	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	protein_coding	OTTHUMT00000049132.2	A	NM_018999	-		86223768	1	no_errors	ENST00000372088	ensembl	human	known	74_37	missense	SNP	0.846	T	T	86223768	A	T	86223768	3	4	25	1	0	0	0	0	1	0	0	0	5524	449	16	5	2166	5	FAM190B	10	86223768	Missense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	35395971	86223768	49310979	46	1765											
SORCS3	22986	genome.wustl.edu	37	chr10	106970991	106970991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcagccttggtcaaagCtaccttaacagcactgggta	10	11	1	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:106970991C>T	ENST00000369701.3	+	17	2585	c.2358C>T	c.(2356-2358)agC>agT	p.S786S	SORCS3_ENST00000369699.4_Silent_p.S72S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	786					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)		TTGGTCAAAGCTACCTTAACA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						104	84	91					10																	106970991		2203	4300	6503	SORCS3	SO:0001819	synonymous_variant	0			-	HGNC	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.2358C>T	10.37:g.106970991C>T		Somatic	0	42	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q5VXF9|Q9NQJ2	Silent	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S786	ENST00000369701.3	37	c.2358	CCDS7558.1	10																																																																																			-	smart_VPS10		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	C	NM_014978	-		106970991	1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	SNP	1.000	T	T	106970991	C	T	106970991	2	4	25	1	0	0	0	0	0	0	0	1	14940	796	28	2		2	SORCS3	10	106970991	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	20747223	106970991	28563756	47	1766											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111667471	111667471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcatctcccgatgggAtgatgtaggcctggatcggt	15	8	1	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:111667471A>T	ENST00000502935.1	-	3	343	c.224T>A	c.(223-225)aTc>aAc	p.I75N	XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.I32N|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.I75N					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCCGATGGGATGATGTAGGC	0.502																																																	0								ENSG00000108039						241	200	214					10																	111667471		2203	4300	6503	XPNPEP1	SO:0001583	missense	0			-	HGNC		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.224T>A	10.37:g.111667471A>T	ENSP00000421566:p.Ile75Asn	Somatic	0	61	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24		Missense_Mutation	SNP							pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I75N	ENST00000502935.1	37	c.224	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405333	0.83230	.	.	ENSG00000108039	ENST00000502935;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.33	5.33	0.75918	Creatinase (1);	0.130078	0.50627	D	0.000106	D	0.85031	0.5604	M	0.92219	3.285	0.45129	D	0.998144	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.88429	0.3034	9	0.87932	D	0	-14.0668	12.8205	0.57690	1.0:0.0:0.0:0.0	.	75;75;32	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	N	75;75;32;32;32	.	ENSP00000324011:I75N	I	-	2	0	XPNPEP1	111657461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.458000	0.73509	2.025000	0.59659	0.533000	0.62120	ATC	-	pfam_Creatinase		0.502	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	A		-		111667471	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111667471	A	T	111667471	3	4	25	1	0	0	0	0	1	0	0	0	17449	333	12	5	1852	5	XPNPEP1	10	111667471	Missense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	4696480	111667471	23867276	48	1767											
DMBT1	1755	genome.wustl.edu	37	chr10	124335918	124335918	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgtgccttcctctaggatCtgattctggtttggccctga	10	11	4	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:124335918C>A	ENST00000338354.3	+	7	393	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	DMBT1_ENST00000368909.3_Missense_Mutation_p.S96Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.S96Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S96Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S96Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.S96Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S96Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	96					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTCTAGGATCTGATTCTGGT	0.557																																					Ovarian(182;93 2026 18125 22222 38972)												0								ENSG00000187908						110	112	111					10																	124335918		1994	4191	6185	DMBT1	SO:0001583	missense	0			-	HGNC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.287C>A	10.37:g.124335918C>A	ENSP00000342210:p.Ser96Tyr	Somatic	0	131	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	126	25.00	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP							pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.S96Y	ENST00000338354.3	37	c.287		10	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414133	0.42817	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.26518	1.81;1.77;1.73;1.81;1.77;1.73;1.75	4.54	2.64	0.31445	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.36608	0.0973	L	0.43646	1.37	0.09310	N	1	P;D;P;D;D	0.69078	0.714;0.977;0.495;0.997;0.979	B;P;B;D;P	0.69307	0.395;0.856;0.177;0.963;0.76	T	0.10543	-1.0625	9	0.66056	D	0.02	.	5.671	0.17723	0.1935:0.7032:0.0:0.1033	.	96;96;96;96;96	F8WEF7;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Y	96	ENSP00000342210:S96Y;ENSP00000343175:S96Y;ENSP00000327747:S96Y;ENSP00000357905:S96Y;ENSP00000357951:S96Y;ENSP00000357952:S96Y;ENSP00000352593:S96Y	ENSP00000331522:S96Y	S	+	2	0	DMBT1	124325908	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.106000	0.15354	0.446000	0.26666	0.591000	0.81541	TCT	-	superfamily_Srcr_rcpt-rel		0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	C	NM_004406	-		124335918	1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124335918	C	A	124335918	3	1	25	1	0	0	0	0	1	0	0	0	4579	913	32	3	313	3	DMBT1	10	124335918	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	12668447	124335918	11198829	49	1768											
RIC8A	60626	genome.wustl.edu	37	chr11	212446	212446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagagtgtagctcccGtgctgagcgtgctgactgaa	15	8	0	5			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:212446G>A	ENST00000526104.1	+	6	2344	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	RIC8A_ENST00000527696.1_Missense_Mutation_p.V328M|RIC8A_ENST00000325207.5_Missense_Mutation_p.V334M			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	334					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTAGCTCCCGTGCTGAGCGT	0.587																																																	0								ENSG00000177963						65	56	59					11																	212446		2202	4300	6502	RIC8A	SO:0001583	missense	0			-	HGNC	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1000G>A	11.37:g.212446G>A	ENSP00000432008:p.Val334Met	Somatic	0	60	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP							pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.V334M	ENST00000526104.1	37	c.1000		11	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836459	0.71373	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.52295	0.67;0.67;0.67	3.89	3.89	0.44902	Synembryn (1);Armadillo-type fold (1);	0.380493	0.26542	N	0.023790	T	0.70107	0.3186	M	0.83483	2.645	0.48762	D	0.999709	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.968;0.946	T	0.76822	-0.2817	10	0.72032	D	0.01	-25.4202	15.7484	0.77965	0.0:0.0:1.0:0.0	.	328;334;334	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	M	334;334;328	ENSP00000432008:V334M;ENSP00000325941:V334M;ENSP00000434833:V328M	ENSP00000325941:V334M	V	+	1	0	RIC8A	202446	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	3.971000	0.56831	2.130000	0.65690	0.561000	0.74099	GTG	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn		0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	protein_coding	OTTHUMT00000384761.1	G	NM_021932	-		212446	1	no_errors	ENST00000325207	ensembl	human	known	74_37	missense	SNP	0.993	A	A	212446	G	A	212446	3	1	25	1	0	0	0	0	1	0	0	0	13363	1145	40	1	1022	1	RIC8A	11	212446	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		212446	134794070	50	1769											
KRTAP5-2	440021	genome.wustl.edu	37	chr11	1619355	1619355	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagctggagctgcagcccccAcagccagagccacagccccc	10	20	0	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:1619355A>T	ENST00000412090.1	-	1	169	c.126T>A	c.(124-126)tgT>tgA	p.C42*	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	42						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGCCCCCACAGCCAGAGC	0.682																																																	0								ENSG00000205867						35	44	41					11																	1619355		2168	4234	6402	KRTAP5-2	SO:0001587	stop_gained	0			-	HGNC	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.126T>A	11.37:g.1619355A>T	ENSP00000400041:p.Cys42*	Somatic	0	84	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	65	23.91	A9JTZ1	Nonsense_Mutation	SNP							NULL	p.C42*	ENST00000412090.1	37	c.126	CCDS31331.1	11	.	.	.	.	.	.	.	.	.	.	-	29.2	4.983474	0.93044	.	.	ENSG00000205867	ENST00000412090	.	.	.	3.13	-2.24	0.06909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0584	0.09827	0.3419:0.3026:0.3556:0.0	.	.	.	.	X	42	.	ENSP00000400041:C42X	C	-	3	2	KRTAP5-2	1575931	0.000000	0.05858	0.735000	0.30896	0.706000	0.40770	-0.196000	0.09532	-0.367000	0.08052	0.367000	0.22151	TGT	-	NULL		0.682	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-2	protein_coding	OTTHUMT00000384775.1	A	NM_001004325	-		1619355	-1	no_errors	ENST00000412090	ensembl	human	known	74_37	nonsense	SNP	0.868	T	T	1619355	A	T	1619355	4	4	25	1	0	0	0	0	0	1	0	0	8563	157	6	5	411	5	KRTAP5-2	11	1619355	Nonsense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	1406909	1619355	133387161	51	1770											
DNHD1	144132	genome.wustl.edu	37	chr11	6579248	6579248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactctggcttctagcatttGtcaggcccatttctttcatc	6	13	5	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:6579248G>T	ENST00000527990.2	+	23	8723	c.8723G>T	c.(8722-8724)tGt>tTt	p.C2908F	DNHD1_ENST00000254579.6_Missense_Mutation_p.C2908F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2908					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTAGCATTTGTCAGGCCCAT	0.602																																																	0								ENSG00000179532						65	52	56					11																	6579248		692	1591	2283	DNHD1	SO:0001583	missense	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8723G>T	11.37:g.6579248G>T	ENSP00000436180:p.Cys2908Phe	Somatic	0	47	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.C2908F	ENST00000527990.2	37	c.8723	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	3.616	-0.078612	0.07141	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.28255	1.62;1.62	5.6	2.65	0.31530	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.28373	N	0.919926	P;P	0.45078	0.638;0.85	B;P	0.45276	0.078;0.475	T	0.07233	-1.0783	9	0.56958	D	0.05	.	7.6306	0.28236	0.1562:0.1348:0.709:0.0	.	2908;655	Q96M86;E9PHZ7	DNHD1_HUMAN;.	F	2908;2908;655	ENSP00000254579:C2908F;ENSP00000436180:C2908F	ENSP00000254579:C2908F	C	+	2	0	DNHD1	6535824	0.003000	0.15002	0.977000	0.42913	0.041000	0.13682	0.217000	0.17603	0.281000	0.22233	-0.142000	0.14014	TGT	-	superfamily_P-loop_NTPase		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	G	NM_144666	-		6579248	1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	SNP	0.706	T	T	6579248	G	T	6579248	3	4	25	1	0	0	0	0	1	0	0	0	4670	1377	48	3	8822	3	DNHD1	11	6579248	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	4959893	6579248	128427268	52	1771											
USP47	55031	genome.wustl.edu	37	chr11	11970051	11970052	+	Frame_Shift_Ins	INS	-	-	A													ttagactggggagagcacttINSaaaaaaggagaatacagagt							TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:11970051_11970052insA	ENST00000399455.2	+	23	3474_3475	c.3354_3355insA	c.(3355-3357)aaafs	p.K1119fs	USP47_ENST00000527733.1_Frame_Shift_Ins_p.K1099fs|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Frame_Shift_Ins_p.K1031fs	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1119					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAGAGCACTTAAAAAAGGAGA	0.307																																																	0								ENSG00000170242																																			USP47	SO:0001589	frameshift_variant	0				HGNC	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3360dupA	11.37:g.11970057_11970057dupA	ENSP00000382382:p.Lys1119fs	Somatic	0	21	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Frame_Shift_Ins	INS							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G1120fs	ENST00000399455.2	37	c.3354_3355		11																																																																																			-	NULL		0.307	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	protein_coding	OTTHUMT00000385853.2	-	NM_017944			11970052	1	no_errors	ENST00000399455	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:1.000	A	A	11970052	-	A	11970051	7	5	25	1	0	1	1	0	0	0	0	0	17085	1741	61	0	3172	0	USP47	11	11970051	Frame_Shift_Ins	INS	-	TCGA-DX-A1L1-01A-11D-A24N-09	5390803	11970051	123036465	53	1772											
OVCH1	341350	genome.wustl.edu	37	chr12	29592359	29592359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcattgccagagttccagCgaatgaagctaagatggtct	10	8	2	3	rs145438752	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:29592359C>T	ENST00000318184.5	-	26	3165	c.3166G>A	c.(3166-3168)Gct>Act	p.A1056T	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1056						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					agagttccagcgaatgaagct	0.299																																																	0								ENSG00000187950						68	61	64					12																	29592359		1824	4070	5894	OVCH1	SO:0001583	missense	0			-	HGNC	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.3166G>A	12.37:g.29592359C>T	ENSP00000326708:p.Ala1056Thr	Somatic	0	32	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A1056T	ENST00000318184.5	37	c.3166		12	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093725	0.07053	.	.	ENSG00000187950	ENST00000318184	T	0.33654	1.4	0.427	-0.633	0.11519	CUB (2);	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.17653	-1.0362	8	0.51188	T	0.08	.	.	.	.	.	1056	Q7RTY7	OVCH1_HUMAN	T	1056	ENSP00000326708:A1056T	ENSP00000326708:A1056T	A	-	1	0	OVCH1	29483626	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.157000	0.10085	-0.449000	0.07117	-0.444000	0.05651	GCT	-	superfamily_CUB_dom		0.299	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	protein_coding	OTTHUMT00000395997.2	C	NM_183378	-		29592359	-1	no_errors	ENST00000318184	ensembl	human	known	74_37	missense	SNP	0.005	T	T	29592359	C	T	29592359	3	4	25	1	0	0	0	0	1	0	0	0	11325	768	27	1	250	1	OVCH1	12	29592359	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		29592359	104259536	54	1773											
KRT73	319101	genome.wustl.edu	37	chr12	53005034	53005034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcagtctttggatgagaCgggtcagctctgagatctca	13	9	4	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:53005034C>T	ENST00000305748.3	-	6	1098	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	355	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGATGAGACGGGTCAGCTC	0.537																																																	0								ENSG00000186049						163	138	146					12																	53005034		2203	4300	6503	KRT73	SO:0001583	missense	0			-	HGNC	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1064G>A	12.37:g.53005034C>T	ENSP00000307014:p.Arg355His	Somatic	0	69	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	Q32MB2	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R355H	ENST00000305748.3	37	c.1064	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027819	0.75390	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.90504	-2.68;-2.68	5.61	5.61	0.85477	Filament (1);	0.000000	0.49916	D	0.000128	D	0.92721	0.7686	M	0.92026	3.265	0.41322	D	0.987184	P	0.45827	0.867	B	0.40940	0.344	D	0.94328	0.7559	10	0.87932	D	0	.	16.2836	0.82708	0.1329:0.8671:0.0:0.0	.	355	Q86Y46	K2C73_HUMAN	H	355;100	ENSP00000307014:R355H;ENSP00000449081:R100H	ENSP00000307014:R355H	R	-	2	0	KRT73	51291301	0.906000	0.30813	0.978000	0.43139	0.911000	0.54048	3.680000	0.54641	2.821000	0.97095	0.555000	0.69702	CGT	-	pfam_IF,superfamily_Prefoldin		0.537	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	protein_coding	OTTHUMT00000405700.1	C	NM_175068	-		53005034	-1	no_errors	ENST00000305748	ensembl	human	known	74_37	missense	SNP	0.964	T	T	53005034	C	T	53005034	3	4	25	1	0	0	0	0	1	0	0	0	8488	536	19	1	574	1	KRT73	12	53005034	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	23412675	53005034	80846861	55	1774											
NUP107	57122	genome.wustl.edu	37	chr12	69121131	69121131	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctttttttcctatgaagGaggaagtttctattgaagtt	9	4	2	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:69121131G>A	ENST00000229179.4	+	20	2028	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	NUP107_ENST00000378905.2_Splice_Site_p.E415K|NUP107_ENST00000539906.1_Splice_Site_p.E537K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	566					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 export from nucleus (GO:0006406)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCTATGAAGGAGGAAGTTTC	0.234																																																	0								ENSG00000111581						50	57	55					12																	69121131		2196	4285	6481	NUP107	SO:0001630	splice_region_variant	0			-	HGNC	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1696-1G>A	12.37:g.69121131G>A		Somatic	0	61	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	B4DZ67|Q6PJE1	Missense_Mutation	SNP							pfam_Nup84_Nup100	p.E566K	ENST00000229179.4	37	c.1696	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.078036	0.94000	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.57	5.57	0.84162	.	0.090794	0.85682	D	0.000000	T	0.74997	0.3790	M	0.75777	2.31	0.80722	D	1	D;P;D	0.56287	0.975;0.47;0.975	P;B;P	0.54100	0.742;0.42;0.742	T	0.74589	-0.3615	8	.	.	.	-27.0511	19.9464	0.97184	0.0:0.0:1.0:0.0	.	537;415;566	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	K	566;415;537	.	.	E	+	1	0	NUP107	67407398	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.081000	0.76844	2.798000	0.96311	0.650000	0.86243	GAG	-	pfam_Nup84_Nup100		0.234	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	protein_coding	OTTHUMT00000403195.1	G	NM_020401	-	Missense_Mutation	69121131	1	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69121131	G	A	69121131	5	1	25	1	0	0	0	0	0	0	1	0	10755	1188	41	2	1774	2	NUP107	12	69121131	Splice_Site	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	16116097	69121131	64730764	56	1775											
TMCC3	57458	genome.wustl.edu	37	chr12	94975900	94975900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggcatctttcaaagagcGatgtatatccttcaggtggt	12	7	3	1	rs374305237		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:94975900G>A	ENST00000261226.4	-	2	624	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	TMCC3_ENST00000551457.1_Missense_Mutation_p.R134C	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	165						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTCAAAGAGCGATGTATATCC	0.498																																																	0								ENSG00000057704						99	102	101					12																	94975900		2203	4300	6503	TMCC3	SO:0001583	missense	0			-	HGNC	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.493C>T	12.37:g.94975900G>A	ENSP00000261226:p.Arg165Cys	Somatic	0	54	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	Q8IWB2	Missense_Mutation	SNP							pfam_Predicted_TM_coiled-coil_2	p.R165C	ENST00000261226.4	37	c.493	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342027	0.41498	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44482	0.92;0.92	4.65	3.76	0.43208	.	0.525520	0.23828	N	0.044165	T	0.32496	0.0831	L	0.29908	0.895	0.32110	N	0.589425	B	0.23591	0.088	B	0.17979	0.02	T	0.47018	-0.9149	10	0.87932	D	0	-12.1157	14.1137	0.65139	0.0738:0.0:0.9262:0.0	.	165	Q9ULS5	TMCC3_HUMAN	C	165;134	ENSP00000261226:R165C;ENSP00000449888:R134C	ENSP00000261226:R165C	R	-	1	0	TMCC3	93500031	0.831000	0.29352	0.199000	0.23439	0.787000	0.44495	3.675000	0.54605	1.572000	0.49736	0.561000	0.74099	CGC	-	pfam_Predicted_TM_coiled-coil_2		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	protein_coding	OTTHUMT00000408113.1	G	NM_020698	-		94975900	-1	no_errors	ENST00000261226	ensembl	human	known	74_37	missense	SNP	0.935	A	A	94975900	G	A	94975900	3	1	25	1	0	0	0	0	1	0	0	0	16001	1058	37	1	952	1	TMCC3	12	94975900	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	25854769	94975900	38875995	57	1776											
SDSL	113675	genome.wustl.edu	37	chr12	113875883	113875883	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacccacctgggccaggtctGaggggtcccatcctggcccc	12	17	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:113875883G>T	ENST00000403593.4	+	8	1251	c.989G>T	c.(988-990)tGa>tTa	p.*330L	SDSL_ENST00000345635.4_Nonstop_Mutation_p.*330L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	0					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGCCAGGTCTGAGGGGTCCCA	0.592																																																	0								ENSG00000139410						63	70	68					12																	113875883		2203	4300	6503	SDSL	SO:0001578	stop_lost	0			-	HGNC	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.989G>T	12.37:g.113875883G>T	ENSP00000385790:p.*330Leuext*64	Somatic	0	51	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	56	12.50		Nonstop_Mutation	SNP							pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.*330L	ENST00000403593.4	37	c.989	CCDS9170.1	12	.	.	.	.	.	.	.	.	.	.	G	7.336	0.619970	0.14193	.	.	ENSG00000139410	ENST00000403593;ENST00000345635	.	.	.	4.34	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6173	0.22784	0.241:0.0:0.759:0.0	.	.	.	.	L	330	.	.	X	+	2	2	SDSL	112360266	0.967000	0.33354	0.022000	0.16811	0.011000	0.07611	0.711000	0.25764	0.375000	0.24679	0.561000	0.74099	TGA	-	NULL		0.592	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDSL	protein_coding	OTTHUMT00000404782.1	G	NM_138432	-		113875883	1	no_errors	ENST00000345635	ensembl	human	known	74_37	nonstop	SNP	0.242	T	T	113875883	G	T	113875883	4	4	25	1	0	0	0	0	0	0	0	0	13984	1285	45	3	1015	3	SDSL	12	113875883	Nonstop_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	18899983	113875883	19976012	58	1777											
ATP12A	479	genome.wustl.edu	37	chr13	25265371	25265371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaatgtgcccgagggcCtcctggccactgtcactgtg	13	14	1	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:25265371C>T	ENST00000381946.3	+	8	1218	c.1051C>T	c.(1051-1053)Ctc>Ttc	p.L351F	ATP12A_ENST00000218548.6_Missense_Mutation_p.L357F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	351					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCCGAGGGCCTCCTGGCCAC	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)												0								ENSG00000075673						69	52	58					13																	25265371		2203	4300	6503	ATP12A	SO:0001583	missense	0			-	HGNC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1051C>T	13.37:g.25265371C>T	ENSP00000371372:p.Leu351Phe	Somatic	0	29	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L357F	ENST00000381946.3	37	c.1069	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195914	0.58126	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97598	-4.45;-4.45	5.16	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000008	D	0.98741	0.9577	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.87932	D	0	.	7.7346	0.28806	0.0:0.8168:0.0:0.1832	.	357;351	P54707-2;P54707	.;AT12A_HUMAN	F	357;351	ENSP00000218548:L357F;ENSP00000371372:L351F	ENSP00000218548:L357F	L	+	1	0	ATP12A	24163371	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.732000	0.68563	1.414000	0.47017	0.462000	0.41574	CTC	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	C	NM_001676	-		25265371	1	no_errors	ENST00000218548	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25265371	C	T	25265371	3	4	25	1	0	0	0	0	1	0	0	0	1122	681	24	2	1099	2	ATP12A	13	25265371	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		25265371	89904507	59	1778											
MAB21L1	4081	genome.wustl.edu	37	chr13	36050223	36050223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctggcttggcattttTcgttgtagtatttattcaga	8	7	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:36050223T>A	ENST00000379919.4	-	1	609	c.53A>T	c.(52-54)gAa>gTa	p.E18V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	18					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTGGCATTTTTCGTTGTAGTA	0.517																																																	0								ENSG00000180660						79	84	82					13																	36050223		2203	4300	6503	MAB21L1	SO:0001583	missense	0			-	HGNC	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.53A>T	13.37:g.36050223T>A	ENSP00000369251:p.Glu18Val	Somatic	0	70	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q6I9T5	Missense_Mutation	SNP							pfam_Mab-21_dom	p.E18V	ENST00000379919.4	37	c.53	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860555	0.51482	.	.	ENSG00000180660	ENST00000379919	T	0.21932	1.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.74258	2.255	0.80722	D	1	P	0.37176	0.586	P	0.47941	0.562	T	0.11867	-1.0570	10	0.44086	T	0.13	-1.4531	16.0659	0.80870	0.0:0.0:0.0:1.0	.	18	Q13394	MB211_HUMAN	V	18	ENSP00000369251:E18V	ENSP00000369251:E18V	E	-	2	0	MAB21L1	34948223	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	GAA	-	pfam_Mab-21_dom		0.517	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	protein_coding	OTTHUMT00000044459.3	T	NM_005584	-		36050223	-1	no_errors	ENST00000379919	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36050223	T	A	36050223	3	1	25	1	0	0	0	0	1	0	0	0	9143	1783	62	5	1030	5	MAB21L1	13	36050223	Missense_Mutation	SNP	T	TCGA-DX-A1L1-01A-11D-A24N-09	10784852	36050223	79119655	60	1779											
FAM48A	55578	genome.wustl.edu	37	chr13	37619392	37619392	+	Frame_Shift_Del	DEL	T	T	-													agagggtcttacctgatccgTtttttcccctgagcatcaga							TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:37619392delT	ENST00000350612.6	-	6	504	c.284delA	c.(283-285)aacfs	p.N95fs	SUPT20H_ENST00000360252.4_Frame_Shift_Del_p.N96fs|SUPT20H_ENST00000356185.3_Frame_Shift_Del_p.N96fs|SUPT20H_ENST00000542180.1_Frame_Shift_Del_p.N83fs|SUPT20H_ENST00000464744.1_Frame_Shift_Del_p.N96fs|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000475892.1_Frame_Shift_Del_p.N95fs	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	95					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ACCTGATCCGTTTTTTCCCCT	0.403																																																	0								ENSG00000102710						106	100	102					13																	37619392		2203	4300	6503	SUPT20H	SO:0001589	frameshift_variant	0				HGNC	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.284delA	13.37:g.37619392delT	ENSP00000218894:p.Asn95fs	Somatic	0	46	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	E7ER46|Q71RF3|Q9Y6A6	Frame_Shift_Del	DEL							pfam_Spt20	p.N95fs	ENST00000350612.6	37	c.284	CCDS31959.1	13																																																																																			-	pfam_Spt20		0.403	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	protein_coding	OTTHUMT00000354766.1	T	NM_017569			37619392	-1	no_errors	ENST00000350612	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	37619392	T	-	37619392	7	5	25	1	0	1	0	1	0	0	0	0	5574	1725	60	0	2139	0	FAM48A	13	37619392	Frame_Shift_Del	DEL	T	TCGA-DX-A1L1-01A-11D-A24N-09	1569169	37619392	77550486	61	1780											
LCP1	3936	genome.wustl.edu	37	chr13	46717508	46717508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactttgatcttttcatagaGctggaagatgaccagggcat	10	7	2	4			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:46717508G>T	ENST00000398576.2	-	15	1673	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I	LCP1_ENST00000323076.2_Missense_Mutation_p.L429I|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	429	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTTTCATAGAGCTGGAAGATG	0.423			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0								ENSG00000136167						144	127	132					13																	46717508		2203	4300	6503	LCP1	SO:0001583	missense	0			-	HGNC	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1285C>A	13.37:g.46717508G>T	ENSP00000381581:p.Leu429Ile	Somatic	0	77	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	58	15.94	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP							pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.L429I	ENST00000398576.2	37	c.1285	CCDS9403.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698436	0.88830	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.97575	-4.44;-4.44	5.65	5.65	0.86999	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97628	1.0140	10	0.37606	T	0.19	-12.3178	12.0752	0.53638	0.0779:0.0:0.9221:0.0	.	429	P13796	PLSL_HUMAN	I	429	ENSP00000315757:L429I;ENSP00000381581:L429I	ENSP00000315757:L429I	L	-	1	0	LCP1	45615509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.660000	0.90430	0.555000	0.69702	CTC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	protein_coding	OTTHUMT00000044800.3	G	NM_002298	-		46717508	-1	no_errors	ENST00000323076	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46717508	G	T	46717508	3	4	25	1	0	0	0	0	1	0	0	0	8693	971	34	3	618	3	LCP1	13	46717508	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	9098116	46717508	68452370	62	1781											
NGB	58157	genome.wustl.edu	37	chr14	77732947	77732947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttggctccaggcagcccGtgtggctggtgtgaaggcag	18	9	0	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr14:77732947G>A	ENST00000298352.4	-	4	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	130	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CAGGCAGCCCGTGTGGCTGGT	0.632																																																	0								ENSG00000165553						54	49	51					14																	77732947		2203	4300	6503	NGB	SO:0001583	missense	0			-	HGNC	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.388C>T	14.37:g.77732947G>A	ENSP00000298352:p.Arg130Trp	Somatic	0	68	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	20.00		Missense_Mutation	SNP							pfam_Globin,superfamily_Globin-like,pfscan_Globin	p.R130W	ENST00000298352.4	37	c.388	CCDS9856.1	14	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761353	0.49468	.	.	ENSG00000165553	ENST00000298352	.	.	.	4.76	-0.357	0.12579	Globin-like (1);Globin, structural domain (1);	0.115150	0.64402	D	0.000012	T	0.46502	0.1396	M	0.68952	2.095	0.26678	N	0.971606	D	0.61697	0.99	P	0.48304	0.573	T	0.55029	-0.8204	9	0.72032	D	0.01	.	14.6407	0.68723	0.0:0.0:0.4725:0.5275	.	130	Q9NPG2	NGB_HUMAN	W	130	.	ENSP00000298352:R130W	R	-	1	2	NGB	76802700	0.981000	0.34729	0.003000	0.11579	0.542000	0.35054	2.294000	0.43567	0.031000	0.15407	-0.397000	0.06425	CGG	-	superfamily_Globin-like,pfscan_Globin		0.632	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGB	protein_coding	OTTHUMT00000414194.1	G	NM_021257	-		77732947	-1	no_errors	ENST00000298352	ensembl	human	known	74_37	missense	SNP	0.054	A	A	77732947	G	A	77732947	3	1	25	1	0	0	0	0	1	0	0	0	10394	1144	40	1	71	1	NGB	14	77732947	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		77732947	29616593	63	1782											
TLN2	83660	genome.wustl.edu	37	chr15	63029191	63029191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccatgttagattctgctcGagacgtgatggagggctccg	14	9	1	3			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr15:63029191G>A	ENST00000561311.1	+	28	3703	c.3473G>A	c.(3472-3474)cGa>cAa	p.R1158Q	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.R1158Q			Q9Y4G6	TLN2_HUMAN	talin 2	1158	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATTCTGCTCGAGACGTGATG	0.617																																																	0								ENSG00000171914						55	54	54					15																	63029191		2203	4300	6503	TLN2	SO:0001583	missense	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3473G>A	15.37:g.63029191G>A	ENSP00000453508:p.Arg1158Gln	Somatic	0	55	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	A6NLB8	Missense_Mutation	SNP							pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R1158Q	ENST00000561311.1	37	c.3473	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502819	0.64298	.	.	ENSG00000171914	ENST00000306829	T	0.12361	2.69	5.12	5.12	0.69794	.	0.115726	0.56097	D	0.000033	T	0.14917	0.0360	L	0.41824	1.3	0.48830	D	0.999712	B	0.18610	0.029	B	0.09377	0.004	T	0.03344	-1.1046	10	0.40728	T	0.16	-11.5678	18.947	0.92626	0.0:0.0:1.0:0.0	.	1158	Q9Y4G6	TLN2_HUMAN	Q	1158	ENSP00000303476:R1158Q	ENSP00000303476:R1158Q	R	+	2	0	TLN2	60816483	0.990000	0.36364	0.988000	0.46212	0.981000	0.71138	6.467000	0.73547	2.545000	0.85829	0.591000	0.81541	CGA	-	superfamily_Vinculin/catenin		0.617	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G		-		63029191	1	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	SNP	0.875	A	A	63029191	G	A	63029191	3	1	25	1	0	0	0	0	1	0	0	0	15955	1058	37	1	3575	1	TLN2	15	63029191	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		63029191	39502201	64	1783											
RPL3L	6123	genome.wustl.edu	37	chr16	2003015	2003015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtttctacaattgtcacCgcctccacctcctcccgttt	6	17	2	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:2003015C>T	ENST00000268661.7	-	3	319	c.225G>A	c.(223-225)gcG>gcA	p.A75A	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	75					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						CAATTGTCACCGCCTCCACCT	0.617																																																	0								ENSG00000140986						59	52	54					16																	2003015		2199	4300	6499	RPL3L	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000268661.7:c.225G>A	16.37:g.2003015C>T		Somatic	0	32	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	60	13.04		Silent	SNP							pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.A75	ENST00000268661.7	37	c.225	CCDS10450.1	16																																																																																			-	pfam_Ribosomal_L3,superfamily_Transl_B-barrel		0.617	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	protein_coding	OTTHUMT00000250582.2	C	NM_005061	-		2003015	-1	no_errors	ENST00000268661	ensembl	human	known	74_37	silent	SNP	0.002	T	T	2003015	C	T	2003015	2	4	25	1	0	0	0	0	0	0	0	1	13602	639	23	1		1	RPL3L	16	2003015	Silent	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		2003015	88351738	65	1784											
N4BP1	9683	genome.wustl.edu	37	chr16	48595677	48595677	+	Frame_Shift_Del	DEL	T	T	-													aaactgcttcttcgtatgccTttcttcagaatcagaaaatc							TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:48595677delT	ENST00000262384.3	-	2	1113	c.877delA	c.(877-879)aggfs	p.R293fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	293					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)				TTCGTATGCCTTTCTTCAGAA	0.393																																																	0								ENSG00000102921						87	84	85					16																	48595677		1832	4085	5917	N4BP1	SO:0001589	frameshift_variant	0				HGNC	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.877delA	16.37:g.48595677delT	ENSP00000262384:p.Arg293fs	Somatic	0	35	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A7MD49|Q2YDX1	Frame_Shift_Del	DEL							pfam_RNase_Zc3h12	p.R293fs	ENST00000262384.3	37	c.877	CCDS45479.1	16																																																																																			-	NULL		0.393	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	protein_coding	OTTHUMT00000429920.1	T	NM_014664			48595677	-1	no_errors	ENST00000262384	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	48595677	T	-	48595677	7	5	25	1	0	1	0	1	0	0	0	0	10111	1608	56	0	1837	0	N4BP1	16	48595677	Frame_Shift_Del	DEL	T	TCGA-DX-A1L1-01A-11D-A24N-09	46592662	48595677	41759076	66	1785											
CDH3	1001	genome.wustl.edu	37	chr16	68721584	68721584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccacacctcccctttccaGgcccagctcacagatgactc	5	21	1	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:68721584G>T	ENST00000264012.4	+	12	2284	c.1740G>T	c.(1738-1740)caG>caT	p.Q580H	CDH3_ENST00000429102.2_Missense_Mutation_p.Q580H|CDH3_ENST00000581171.1_Missense_Mutation_p.Q525H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	580	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCCTTTCCAGGCCCAGCTCA	0.607																																																	2	Unknown(2)	breast(2)						ENSG00000062038						127	98	107					16																	68721584		2198	4300	6498	CDH3	SO:0001583	missense	0			-	HGNC	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1740G>T	16.37:g.68721584G>T	ENSP00000264012:p.Gln580His	Somatic	0	29	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	B2R6F4|Q05DI6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q580H	ENST00000264012.4	37	c.1740	CCDS10868.1	16	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552627	0.27739	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.60672	0.17;0.17	5.29	2.13	0.27403	Cadherin (1);Cadherin-like (1);	0.678066	0.12386	N	0.473492	T	0.43986	0.1272	L	0.48642	1.525	0.33599	D	0.602058	B	0.06786	0.001	B	0.06405	0.002	T	0.44298	-0.9337	10	0.22109	T	0.4	.	4.4997	0.11858	0.0808:0.2774:0.4973:0.1445	.	580	P22223	CADH3_HUMAN	H	580;580;525	ENSP00000398485:Q580H;ENSP00000264012:Q580H	ENSP00000264012:Q580H	Q	+	3	2	CDH3	67279085	0.015000	0.18098	0.996000	0.52242	0.980000	0.70556	0.086000	0.14935	0.619000	0.30197	0.563000	0.77884	CAG	-	superfamily_Cadherin-like,pfscan_Cadherin		0.607	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	protein_coding	OTTHUMT00000268896.2	G	NM_001793	-		68721584	1	no_errors	ENST00000264012	ensembl	human	known	74_37	missense	SNP	0.988	T	T	68721584	G	T	68721584	3	4	25	1	0	0	0	0	1	0	0	0	3113	991	35	3	1786	3	CDH3	16	68721584	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	20125907	68721584	21633169	67	1786											
HYDIN	54768	genome.wustl.edu	37	chr16	70926319	70926319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttttgcatggaagAaaacttggacatttgtgggt	10	6	0	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:70926319A>T	ENST00000393567.2	-	56	9512	c.9362T>A	c.(9361-9363)tTc>tAc	p.F3121Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3121					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)				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)				TGCATGGAAGAAAACTTGGAC	0.463																																																	0								ENSG00000157423						147	158	154					16																	70926319		1869	4097	5966	HYDIN	SO:0001583	missense	0			-	HGNC	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.9362T>A	16.37:g.70926319A>T	ENSP00000377197:p.Phe3121Tyr	Somatic	0	112	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	98	8.41	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.F3121Y	ENST00000393567.2	37	c.9362	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765338	0.31228	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00848	5.62	4.86	1.36	0.22044	.	1.206350	0.06741	U	0.778335	T	0.00845	0.0028	L	0.44542	1.39	0.09310	N	1	P	0.43788	0.817	B	0.30716	0.119	T	0.47509	-0.9112	10	0.12430	T	0.62	.	7.4832	0.27417	0.7313:0.0:0.2687:0.0	.	3120	F8WD23	.	Y	3121;3120	ENSP00000377197:F3121Y	ENSP00000313052:F3120Y	F	-	2	0	HYDIN	69483820	0.037000	0.19845	0.480000	0.27341	0.512000	0.34134	0.817000	0.27281	0.693000	0.31634	0.358000	0.22013	TTC	-	NULL		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	A		-		70926319	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.012	T	T	70926319	A	T	70926319	3	4	25	1	0	0	0	0	1	0	0	0	7469	246	9	5	6127	5	HYDIN	16	70926319	Missense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09	2204735	70926319	19428434	68	1787											
IRF8	3394	genome.wustl.edu	37	chr16	85946797	85946797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccccgccggaggcctgtCggagtcagctccttccagac	11	17	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:85946797C>T	ENST00000268638.5	+	5	930	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	170					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAGGCCTGTCGGAGTCAGCT	0.617																																																	0								ENSG00000140968						93	99	97					16																	85946797		2198	4300	6498	IRF8	SO:0001583	missense	0			-	HGNC	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.508C>T	16.37:g.85946797C>T	ENSP00000268638:p.Arg170Trp	Somatic	0	27	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A0AV82	Missense_Mutation	SNP							pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.R170W	ENST00000268638.5	37	c.508	CCDS10956.1	16	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740702	0.69304	.	.	ENSG00000140968	ENST00000268638	D	0.97041	-4.22	4.86	-0.244	0.13031	.	0.454767	0.24147	N	0.041114	D	0.94584	0.8255	L	0.55481	1.735	0.80722	D	1	B	0.26577	0.153	B	0.23275	0.045	D	0.87374	0.2352	10	0.33940	T	0.23	-35.7004	16.2275	0.82311	0.3233:0.6767:0.0:0.0	.	170	Q02556	IRF8_HUMAN	W	170	ENSP00000268638:R170W	ENSP00000268638:R170W	R	+	1	2	IRF8	84504298	0.911000	0.30947	0.966000	0.40874	0.984000	0.73092	0.094000	0.15107	-0.250000	0.09555	0.561000	0.74099	CGG	-	NULL		0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF8	protein_coding	OTTHUMT00000269100.2	C	NM_002163	-		85946797	1	no_errors	ENST00000268638	ensembl	human	known	74_37	missense	SNP	0.997	T	T	85946797	C	T	85946797	3	4	25	1	0	0	0	0	1	0	0	0	7838	875	31	1	522	1	IRF8	16	85946797	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	15020478	85946797	4407956	69	1788											
CTU2	9780	genome.wustl.edu	37	chr16	88780636	88780645	+	IGR	DEL	GTGTGGGTGT	GTGTGGGTGT	-													actgtcagcactgtgtacagGtgtgggtgtgtgtgggtgtg					rs76217997|rs397761749|rs562672342|rs11278302|rs75686921	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	GTGTGGGTGT	GTGTGGGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:88780636_88780645delGTGTGGGTGT	ENST00000301015.9	-	0	8072				MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000567949.1_Splice_Site|CTU2_ENST00000378384.3_Splice_Site	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						Ctgtgtacaggtgtgggtgtgtgtgggtgt	0.652														77	0.0153754	0.053	0.0101	5008	,	,		15382	0		0	False		,,,				2504	0																0								ENSG00000174177																																			CTU2	SO:0001628	intergenic_variant	0				HGNC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780646_88780655delGTGTGGGTGT		Somatic					0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NHT9|A7E2B7|Q0KKZ9	Splice_Site	DEL							-	e10+1	ENST00000301015.9	37	c.1310+1_1310+1	CCDS54058.1	16																																																																																			-	-		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	protein_coding	OTTHUMT00000345699.4	GTGTGGGTGT	NM_014745			88780645	1	no_errors	ENST00000567949	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.994:0.081:0.045:0.115:0.119:0.133:0.137:0.136:0.126	-	-	88780645	GTGTGGGTGT	-	88780636	6	5	25	0	1	1	0	1	0	0	0	0	4050	1275	44	0		0	CTU2	16	88780636	IGR	DEL	GTGTGGGTGT	TCGA-DX-A1L1-01A-11D-A24N-09	2833839	88780636	1574117	70	1789											
TP53	7157	genome.wustl.edu	37	chr17	7578515	7578515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcacagggcaggtctTggccagttggcaaaacatct	12	11	2	0	rs137852794		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:7578515T>C	ENST00000269305.4	-	5	604	c.415A>G	c.(415-417)Aag>Gag	p.K139E	TP53_ENST00000413465.2_Missense_Mutation_p.K139E|TP53_ENST00000445888.2_Missense_Mutation_p.K139E|TP53_ENST00000359597.4_Missense_Mutation_p.K139E|TP53_ENST00000455263.2_Missense_Mutation_p.K139E|TP53_ENST00000420246.2_Missense_Mutation_p.K139E|TP53_ENST00000574684.1_5'Flank	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	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> 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.K139E(5)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.K139Q(2)|p.K139fs*9(2)|p.N131fs*27(2)|p.K139*(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.V73fs*9(1)|p.K139fs*31(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.K46E(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)|p.K7E(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)	GGGCAGGTCTTGGCCAGTTGG	0.567		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	50	Deletion - In frame(15)|Deletion - Frameshift(13)|Substitution - Missense(9)|Whole gene deletion(8)|Substitution - Nonsense(2)|Insertion - Frameshift(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	ovary(8)|urinary_tract(6)|breast(6)|NS(5)|liver(5)|central_nervous_system(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|skin(1)|oesophagus(1)						ENSG00000141510						54	54	54					17																	7578515		2203	4300	6503	TP53	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;	-	HGNC	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.415A>G	17.37:g.7578515T>C	ENSP00000269305:p.Lys139Glu	Somatic	0	43	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	25	58.33	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K139E	ENST00000269305.4	37	c.415	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396596	0.62177	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	5.27	4.12	0.48240	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	0.99582	0.9849	M	0.66297	2.02	0.51482	D	0.999927	D;D;P;D;D;D;D	0.76494	0.982;0.998;0.923;0.988;0.999;0.993;0.989	P;D;P;P;D;D;P	0.78314	0.841;0.984;0.846;0.709;0.991;0.991;0.74	D	0.97679	1.0171	10	0.87932	D	0	-25.2607	10.2984	0.43637	0.0:0.0:0.1653:0.8347	.	100;139;139;46;139;139;139	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	139;139;139;139;139;139;128;46;7;46;7;139	ENSP00000410739:K139E;ENSP00000352610:K139E;ENSP00000269305:K139E;ENSP00000398846:K139E;ENSP00000391127:K139E;ENSP00000391478:K139E;ENSP00000425104:K7E;ENSP00000423862:K46E;ENSP00000424104:K139E	ENSP00000269305:K139E	K	-	1	0	TP53	7519240	1.000000	0.71417	0.967000	0.41034	0.120000	0.20174	5.052000	0.64263	2.120000	0.65058	0.533000	0.62120	AAG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578515	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7578515	T	C	7578515	3	2	25	1	0	0	0	0	1	0	0	0	16388	1821	63	5	883	5	TP53	17	7578515	Missense_Mutation	SNP	T	TCGA-DX-A1L1-01A-11D-A24N-09		7578515	73616695	71	1790											
SDK2	54549	genome.wustl.edu	37	chr17	71443849	71443849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgcgtcaggggccaccGttgacaggatgacaagggtg	16	10	1	2	rs370909712		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:71443849G>A	ENST00000392650.3	-	5	518	c.518C>T	c.(517-519)aCg>aTg	p.T173M	SDK2_ENST00000388726.3_Missense_Mutation_p.T173M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	173	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						AGGGGCCACCGTTGACAGGAT	0.567																																																	0								ENSG00000069188	G	MET/THR	1,1383		0,1,691	137	112	119		518	4.8	0.2	17		119	0,3182		0,0,1591	no	missense	SDK2	NM_001144952.1	81	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219	possibly-damaging	173/2173	71443849	1,4565	692	1591	2283	SDK2	SO:0001583	missense	0			-	HGNC	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.518C>T	17.37:g.71443849G>A	ENSP00000376421:p.Thr173Met	Somatic	0	61	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	60	30.23	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T173M	ENST00000392650.3	37	c.518	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902667	0.33628	7.23E-4	0.0	ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.66995	-0.24;-0.24	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.083553	0.47093	U	0.000259	T	0.67896	0.2942	M	0.83384	2.64	0.19775	N	0.999958	P	0.48230	0.907	B	0.39617	0.305	T	0.70223	-0.4931	10	0.87932	D	0	.	13.2406	0.59995	0.0:0.1597:0.8402:0.0	.	173	Q58EX2	SDK2_HUMAN	M	173	ENSP00000376421:T173M;ENSP00000373378:T173M	ENSP00000324967:T173M	T	-	2	0	SDK2	68955444	1.000000	0.71417	0.186000	0.23195	0.693000	0.40251	4.222000	0.58580	2.220000	0.72140	0.313000	0.20887	ACG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064	-		71443849	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	SNP	0.193	A	A	71443849	G	A	71443849	3	1	25	1	0	0	0	0	1	0	0	0	13977	1145	40	1	6164	1	SDK2	17	71443849	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	63865334	71443849	9751361	72	1791											
C18orf34	374864	genome.wustl.edu	37	chr18	30928934	30928934	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcttttgtggaagaagttCtgctcctatataatgggaaa	11	5	2	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr18:30928934C>A	ENST00000383096.3	-	8	559	c.377G>T	c.(376-378)aGa>aTa	p.R126I	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.R126I|CCDC178_ENST00000403303.1_Missense_Mutation_p.R126I|CCDC178_ENST00000402325.1_Missense_Mutation_p.R126I|CCDC178_ENST00000579947.1_Missense_Mutation_p.R126I|CCDC178_ENST00000406524.2_Missense_Mutation_p.R126I|CCDC178_ENST00000583930.1_Missense_Mutation_p.R126I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	126																	GGAAGAAGTTCTGCTCCTATA	0.343																																																	0								ENSG00000166960						128	111	117					18																	30928934		2202	4300	6502	CCDC178	SO:0001583	missense	0			-	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.377G>T	18.37:g.30928934C>A	ENSP00000372576:p.Arg126Ile	Somatic	0	31	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP							NULL	p.R126I	ENST00000383096.3	37	c.377	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	7.978	0.750544	0.15778	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.48836	2.37;2.37;2.37;2.37;2.37;0.8	4.3	0.368	0.16146	.	.	.	.	.	T	0.33760	0.0874	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.32031	0.352;0.041;0.112;0.112	B;B;B;B	0.29176	0.099;0.046;0.028;0.028	T	0.23154	-1.0196	9	0.45353	T	0.12	-0.359	3.1622	0.06524	0.2399:0.517:0.1491:0.094	.	126;126;126;126	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	126	ENSP00000385591:R126I;ENSP00000372576:R126I;ENSP00000300227:R126I;ENSP00000385867:R126I;ENSP00000385234:R126I;ENSP00000382130:R126I	ENSP00000300227:R126I	R	-	2	0	C18orf34	29182932	0.000000	0.05858	0.001000	0.08648	0.198000	0.23893	-0.136000	0.10405	0.051000	0.15978	0.591000	0.81541	AGA	-	NULL		0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	C	NM_198995	-		30928934	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.005	A	A	30928934	C	A	30928934	3	1	25	1	0	0	0	0	1	0	0	0	1904	913	32	3	2290	3	C18orf34	18	30928934	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		30928934	47148314	73	1792											
SEMA6B	10501	genome.wustl.edu	37	chr19	4556091	4556091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcacctttacgaagtttCgacactcgccctgaggtggg	12	12	0	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:4556091C>T	ENST00000586582.1	-	6	690	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	SEMA6B_ENST00000301293.3_Missense_Mutation_p.R127Q|SEMA6B_ENST00000586965.1_Missense_Mutation_p.R127Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	127	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGAAGTTTCGACACTCGCC	0.612																																																	0								ENSG00000167680						98	74	82					19																	4556091		2203	4300	6503	SEMA6B	SO:0001583	missense	0			-	HGNC	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.380G>A	19.37:g.4556091C>T	ENSP00000467290:p.Arg127Gln	Somatic	0	61	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	57	25.00	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.R127Q	ENST00000586582.1	37	c.380	CCDS12131.1	19	.	.	.	.	.	.	.	.	.	.	c	29.4	5.001781	0.93227	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.09538	2.97	3.67	3.67	0.42095	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.068023	0.64402	U	0.000016	T	0.20455	0.0492	L	0.31804	0.96	0.34917	D	0.748043	D;D	0.89917	0.995;1.0	P;D	0.75484	0.864;0.986	T	0.21042	-1.0257	10	0.72032	D	0.01	.	13.2872	0.60249	0.0:1.0:0.0:0.0	.	127;127	B4DT36;Q9H3T3	.;SEM6B_HUMAN	Q	127	ENSP00000301293:R127Q	ENSP00000301292:R127Q	R	-	2	0	SEMA6B	4507091	0.338000	0.24775	0.998000	0.56505	0.703000	0.40648	0.952000	0.29149	2.076000	0.62316	0.298000	0.19748	CGA	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.612	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	protein_coding	OTTHUMT00000458656.2	C	NM_032108	-		4556091	-1	no_errors	ENST00000301293	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4556091	C	T	4556091	3	4	25	1	0	0	0	0	1	0	0	0	14048	884	31	1	2334	1	SEMA6B	19	4556091	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09		4556091	54572892	74	1793											
SLC1A6	6511	genome.wustl.edu	37	chr19	15083667	15083667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgcagccagcccaccCggcccagccgctggccgctc	12	22	0	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:15083667C>T	ENST00000221742.3	-	1	63	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SLC1A6_ENST00000598504.1_Missense_Mutation_p.R19Q|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R19Q|SLC1A6_ENST00000430939.2_Silent_p.P23P|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R19Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	19					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCAGCCCACCCGGCCCAGCCG	0.677																																																	0								ENSG00000105143						7	8	8					19																	15083667		1929	3841	5770	SLC1A6	SO:0001583	missense	0			-	HGNC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.56G>A	19.37:g.15083667C>T	ENSP00000221742:p.Arg19Gln	Somatic	0	10	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	Q8N753	Missense_Mutation	SNP							pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R19Q	ENST00000221742.3	37	c.56	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541573	0.27563	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.55234	0.53;1.26	4.25	1.94	0.25998	.	1.075590	0.07237	N	0.863609	T	0.25791	0.0628	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15141	0.002;0.012;0.004	B;B;B	0.08055	0.001;0.003;0.001	T	0.22068	-1.0227	10	0.10902	T	0.67	-0.7962	6.5908	0.22646	0.2079:0.5909:0.2012:0.0	.	19;20;19	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	Q	19;19;20	ENSP00000221742:R19Q;ENSP00000446175:R19Q	ENSP00000221742:R19Q	R	-	2	0	SLC1A6	14944667	0.000000	0.05858	0.407000	0.26434	0.894000	0.52154	0.768000	0.26590	0.357000	0.24183	0.313000	0.20887	CGG	-	NULL		0.677	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	protein_coding	OTTHUMT00000466283.1	C	NM_005071	-		15083667	-1	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	SNP	0.022	T	T	15083667	C	T	15083667	3	4	25	1	0	0	0	0	1	0	0	0	14444	652	23	1	1674	1	SLC1A6	19	15083667	Missense_Mutation	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	10527576	15083667	44045316	75	1794											
HNRNPL	3191	genome.wustl.edu	37	chr19	39329656	39329656	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttttcatgaatttcacCttggggagagtagctgcagt	11	7	2	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:39329656C>G	ENST00000221419.5	-	9	1600		c.e9-1		HNRNPL_ENST00000600873.1_Splice_Site|AC104534.3_ENST00000594769.1_Splice_Site	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGAATTTCACCTTGGGGAGAG	0.572																																																	0								ENSG00000104824						63	65	64					19																	39329656		2203	4300	6503	HNRNPL	SO:0001630	splice_region_variant	0			-	HGNC	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1234-1G>C	19.37:g.39329656C>G		Somatic	0	45	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	89	13.59	A6ND69|A6NIT8|Q9H3P3	Splice_Site	SNP							-	e9-1	ENST00000221419.5	37	c.1234-1	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486950	0.84854	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2309	0.93839	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPL	44021496	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	7.561000	0.82288	2.842000	0.97951	0.655000	0.94253	.	-	-		0.572	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	protein_coding	OTTHUMT00000462670.1	C		-	Intron	39329656	-1	no_errors	ENST00000221419	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	39329656	C	G	39329656	5	3	25	1	0	0	0	0	0	0	1	0	7272	695	24	4	556	4	HNRNPL	19	39329656	Splice_Site	SNP	C	TCGA-DX-A1L1-01A-11D-A24N-09	24245989	39329656	19799327	76	1795											
FAM83E	54854	genome.wustl.edu	37	chr19	49104467	49104467	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaccgaaccgccttcGggctggggacagatagcgga	13	14	0	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:49104467G>A	ENST00000263266.3	-	5	1525	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	446										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AACCGCCTTCGGGCTGGGGAC	0.706																																																	0								ENSG00000105523						16	17	17					19																	49104467		1833	4076	5909	FAM83E	SO:0001587	stop_gained	0			-	HGNC	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1336C>T	19.37:g.49104467G>A	ENSP00000263266:p.Arg446*	Somatic	0	43	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q9NXK1	Nonsense_Mutation	SNP							pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R446*	ENST00000263266.3	37	c.1336	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779357	0.70107	.	.	ENSG00000105523	ENST00000263266	.	.	.	3.86	2.79	0.32731	.	0.339194	0.15976	U	0.235536	.	.	.	.	.	.	0.42438	D	0.992703	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7737	9.0731	0.36504	0.0:0.0:0.7803:0.2197	.	.	.	.	X	446	.	ENSP00000263266:R446X	R	-	1	2	FAM83E	53796279	0.124000	0.22315	0.007000	0.13788	0.019000	0.09904	1.337000	0.33862	0.724000	0.32296	0.549000	0.68633	CGA	-	NULL		0.706	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	protein_coding	OTTHUMT00000466145.1	G	NM_017708	-		49104467	-1	no_errors	ENST00000263266	ensembl	human	known	74_37	nonsense	SNP	0.023	A	A	49104467	G	A	49104467	4	1	25	1	0	0	0	0	0	1	0	0	5639	1124	39	1	104	1	FAM83E	19	49104467	Nonsense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	9774811	49104467	10024516	77	1796											
KCNC3	3748	genome.wustl.edu	37	chr19	50823861	50823861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcacctcaccttttcggatgGagccatcaggggaaggggca	14	11	2	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:50823861G>T	ENST00000477616.1	-	3	2453	c.2159C>A	c.(2158-2160)tCc>tAc	p.S720Y	KCNC3_ENST00000474951.1_Missense_Mutation_p.S36Y|KCNC3_ENST00000391818.2_Missense_Mutation_p.P57T|KCNC3_ENST00000376959.2_Missense_Mutation_p.S720Y	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	720					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	TTTTCGGATGGAGCCATCAGG	0.672																																					Melanoma(91;1496 2324 50908)												0								ENSG00000131398						31	28	29					19																	50823861		2203	4299	6502	KCNC3	SO:0001583	missense	0			-	HGNC	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2159C>A	19.37:g.50823861G>T	ENSP00000434241:p.Ser720Tyr	Somatic	0	115	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	182	11.65		Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.S720Y	ENST00000477616.1	37	c.2159	CCDS12793.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.475346|2.475346	0.43942|0.43942	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000391818|ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843	.|D;D	.|0.98135	.|-4.74;-4.74	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	.|0.882556	.|0.09294	.|U	.|0.821979	D|D	0.93207|0.93207	0.7836|0.7836	N|N	0.19112|0.19112	0.55|0.55	0.24779|0.24779	N|N	0.992826|0.992826	.|P;P	.|0.52316	.|0.952;0.704	.|B;B	.|0.39531	.|0.302;0.046	D|D	0.88308|0.88308	0.2954|0.2954	6|10	0.87932|0.72032	D|D	0|0.01	.|.	7.6948|7.6948	0.28587|0.28587	0.0:0.2636:0.7364:0.0|0.0:0.2636:0.7364:0.0	.|.	.|720;720	.|Q14003;E7ETH1	.|KCNC3_HUMAN;.	T|Y	57|720;36;720;534	.|ENSP00000366158:S720Y;ENSP00000434241:S720Y	ENSP00000375694:P57T|ENSP00000366158:S720Y	P|S	-|-	1|2	0|0	KCNC3|KCNC3	55515673|55515673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	2.200000|2.200000	0.42724|0.42724	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	CCA|TCC	-	NULL		0.672	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	protein_coding	OTTHUMT00000314288.2	G	NM_004977	-		50823861	-1	no_errors	ENST00000477616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50823861	G	T	50823861	3	4	25	1	0	0	0	0	1	0	0	0	8018	1174	41	3	122	3	KCNC3	19	50823861	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	1719394	50823861	8305122	78	1797											
NLRP4	147945	genome.wustl.edu	37	chr19	56369584	56369584	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctcccggaggcctccctGctcatcgctatcaaacccgt	8	17	2	0			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:56369584G>T	ENST00000301295.6	+	3	1247	c.825G>T	c.(823-825)ctG>ctT	p.L275L	NLRP4_ENST00000346986.5_Silent_p.L275L|NLRP4_ENST00000587891.1_Silent_p.L200L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	275	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGCCTCCCTGCTCATCGCTA	0.562																																																	0								ENSG00000160505						67	74	72					19																	56369584		2203	4300	6503	NLRP4	SO:0001819	synonymous_variant	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.825G>T	19.37:g.56369584G>T		Somatic	0	61	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	80	9.09	Q86W87|Q96AY6	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L275	ENST00000301295.6	37	c.825	CCDS12936.1	19																																																																																			-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444	-		56369584	1	no_errors	ENST00000301295	ensembl	human	known	74_37	silent	SNP	0.965	T	T	56369584	G	T	56369584	2	4	25	1	0	0	0	0	0	0	0	1	10481	1306	46	3		3	NLRP4	19	56369584	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	5545723	56369584	2759399	79	1798											
ZNF831	128611	genome.wustl.edu	37	chr20	57766916	57766916	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgacagagaggctccttgggActctgcccccatggcgtcac	12	15	2	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:57766916A>T	ENST00000371030.2	+	1	842	c.842A>T	c.(841-843)gAc>gTc	p.D281V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	281							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCTCCTTGGGACTCTGCCCCC	0.667																																																	0								ENSG00000124203						51	59	56					20																	57766916		2023	4181	6204	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.842A>T	20.37:g.57766916A>T	ENSP00000360069:p.Asp281Val	Somatic	0	93	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	108	36.47	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D281V	ENST00000371030.2	37	c.842	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	A	7.926	0.739660	0.15642	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.12	2.82	0.32997	.	.	.	.	.	T	0.07683	0.0193	L	0.51422	1.61	0.09310	N	0.999995	D	0.56035	0.974	P	0.48982	0.597	T	0.29488	-1.0010	9	0.52906	T	0.07	-8.1128	5.049	0.14499	0.6687:0.1568:0.1745:0.0	.	281	Q5JPB2	ZN831_HUMAN	V	281	ENSP00000360069:D281V	ENSP00000360069:D281V	D	+	2	0	ZNF831	57200311	0.000000	0.05858	0.045000	0.18777	0.027000	0.11550	-0.056000	0.11787	0.282000	0.22254	0.533000	0.62120	GAC	-	NULL		0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	A	NM_178457	-		57766916	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	57766916	A	T	57766916	3	4	25	1	0	0	0	0	1	0	0	0	18192	275	10	5	844	5	ZNF831	20	57766916	Missense_Mutation	SNP	A	TCGA-DX-A1L1-01A-11D-A24N-09		57766916	5258604	80	1799											
EDN3	1908	genome.wustl.edu	37	chr20	57896081	57896081	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctttgcagacagacggtGccctatggactgtccaacta	11	11	0	2			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:57896081G>T	ENST00000337938.2	+	3	761	c.375G>T	c.(373-375)gtG>gtT	p.V125V	EDN3_ENST00000371025.3_Silent_p.V125V|EDN3_ENST00000395654.3_Silent_p.V125V|EDN3_ENST00000371028.2_Silent_p.V125V|EDN3_ENST00000311585.7_Silent_p.V125V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	125					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACAGACGGTGCCCTATGGAC	0.617																																																	0								ENSG00000124205						85	72	76					20																	57896081		2203	4300	6503	EDN3	SO:0001819	synonymous_variant	0			-	HGNC	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.375G>T	20.37:g.57896081G>T		Somatic	0	49	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	106	13.11	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP							pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.V125	ENST00000337938.2	37	c.375	CCDS13477.1	20																																																																																			-	prints_Bibrotoxin/Sarafotoxin-D		0.617	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	protein_coding	OTTHUMT00000079919.2	G	NM_000114	-		57896081	1	no_errors	ENST00000337938	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57896081	G	T	57896081	2	4	25	1	0	0	0	0	0	0	0	1	4920	1306	46	3		3	EDN3	20	57896081	Silent	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09	129165	57896081	5129439	81	1800											
DIDO1	11083	genome.wustl.edu	37	chr20	61512209	61512209	+	Frame_Shift_Del	DEL	T	T	-													gaagatttcttgggtcctcaTactgggctgagccgagagcc							TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:61512209delT	ENST00000266070.4	-	16	5424	c.5099delA	c.(5098-5100)tatfs	p.Y1700fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.Y1700fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1700					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTCCTCATACTGGGCTGA	0.652																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0								ENSG00000101191						53	61	58					20																	61512209		2203	4300	6503	DIDO1	SO:0001589	frameshift_variant	0				HGNC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5099delA	20.37:g.61512209delT	ENSP00000266070:p.Tyr1700fs	Somatic	0	42	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	68	12.82	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL							pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.Y1700fs	ENST00000266070.4	37	c.5099	CCDS33506.1	20																																																																																			-	NULL		0.652	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	protein_coding	OTTHUMT00000080091.2	T	NM_080796			61512209	-1	no_errors	ENST00000266070	ensembl	human	known	74_37	frame_shift_del	DEL	0.475	-	-	61512209	T	-	61512209	7	5	25	1	0	1	0	1	0	0	0	0	4524	1406	49	0	1627	0	DIDO1	20	61512209	Frame_Shift_Del	DEL	T	TCGA-DX-A1L1-01A-11D-A24N-09	3616128	61512209	1513311	82	1801											
OR11H1	81061	genome.wustl.edu	37	chr22	16449050	16449050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccacaggtagagaagGccttatgtctcccagtgctt	11	11	1	2	rs78350717	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr22:16449050G>A	ENST00000252835.4	-	1	755	c.755C>T	c.(754-756)gCc>gTc	p.A252V		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GGTAGAGAAGGCCTTATGTCT	0.438													G|||	1036	0.206869	0.0703	0.1931	5008	,	,		22319	0.25		0.3608	False		,,,				2504	0.1984																0								ENSG00000130538	G	VAL/ALA	489,3913	225.9+/-241.6	32,425,1744	117	114	115		755	1.7	1	22	dbSNP_134	115	3111,5483	469.5+/-367.6	551,2009,1737	no	missense	OR11H1	NM_001005239.1	64	583,2434,3481	AA,AG,GG		36.1997,11.1086,27.7008	probably-damaging	252/327	16449050	3600,9396	2201	4297	6498	OR11H1	SO:0001583	missense	0			-	HGNC	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.755C>T	22.37:g.16449050G>A	ENSP00000252835:p.Ala252Val	Somatic	0	72	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q6IEX0|Q96R32	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A252V	ENST00000252835.4	37	c.755	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265663	0.40095	0.111086	0.361997	ENSG00000130538	ENST00000252835	T	0.00342	8.03	1.73	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000857	T	0.00012	0.0000	M	0.84433	2.695	0.48185	P	3.9999999999995595E-4	D	0.71674	0.998	D	0.71184	0.972	T	0.48990	-0.8985	9	0.62326	D	0.03	.	9.578	0.39470	0.0:0.0:1.0:0.0	.	252	Q8NG94	O11H1_HUMAN	V	252	ENSP00000252835:A252V	ENSP00000252835:A252V	A	-	2	0	OR11H1	14829050	0.963000	0.33076	0.985000	0.45067	0.717000	0.41224	1.891000	0.39738	0.917000	0.36895	0.368000	0.22195	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	protein_coding	OTTHUMT00000074923.2	G	NM_001005239	rs148001219		16449050	-1	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	SNP	0.996	A	A	16449050	G	A	16449050	3	1	25	1	0	0	0	0	1	0	0	0	10928	1203	42	2	227	2	OR11H1	22	16449050	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		16449050	34855516	83	1802											
BPIL2	254240	genome.wustl.edu	37	chr22	32849374	32849374	+	Frame_Shift_Del	DEL	A	A	-													tcttctttttacttactttgAaaaattgtagtttacataat							TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr22:32849374delA	ENST00000397452.1	-	3	351	c.241delT	c.(241-243)tcafs	p.S81fs	BPIFC_ENST00000397450.1_Frame_Shift_Del_p.S81fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Del_p.S81fs|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	81						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										acttaCTTTGAAAAATTGTAG	0.353																																																	0								ENSG00000184459						45	44	44					22																	32849374		2202	4299	6501	BPIFC	SO:0001589	frameshift_variant	0				HGNC	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.241delT	22.37:g.32849374delA	ENSP00000380594:p.Ser81fs	Somatic	0	28	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	A2RRF1	Frame_Shift_Del	DEL							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S81fs	ENST00000397452.1	37	c.241	CCDS13906.1	22																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.353	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	protein_coding	OTTHUMT00000129029.2	A	NM_174932			32849374	-1	no_errors	ENST00000300399	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	32849374	A	-	32849374	7	5	25	1	0	1	0	1	0	0	0	0	1494	246	9	0	1338	0	BPIL2	22	32849374	Frame_Shift_Del	DEL	A	TCGA-DX-A1L1-01A-11D-A24N-09	16400324	32849374	18455192	84	1803											
DGKK	139189	genome.wustl.edu	37	chrX	50134456	50134456	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctaggatcctcacactaGcctgctccactctgttgagg	9	13	3	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chrX:50134456G>T	ENST00000376025.2	-	0	1882							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CCTCACACTAGCCTGCTCCAC	0.512																																																	0								ENSG00000204466						183	170	174					X																	50134456		2057	4172	6229	DGKK			0			-	HGNC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50134456G>T		Somatic	0	46	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	B2RP91	RNA	SNP							-	NULL	ENST00000376025.2	37	NULL		X																																																																																			-	-		0.512	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742	-		50134456	-1	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	SNP	1.000	T	T	50134456	G	T	50134456	1	4	25	0	1	0	0	0	0	0	0	0	4474	971	34	3		3	DGKK	23	50134456	RNA	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		50134456	105136104	85	1804											
PCDH11Y	83259	genome.wustl.edu	37	chrY	4967352	4967352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattctggcaaaagataatgGggtaccacccttaaccagca	8	10	1	1			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chrY:4967352G>T	ENST00000333703.4	+	5	2213	c.1700G>T	c.(1699-1701)gGg>gTg	p.G567V	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.G578V|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.G578V	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	578	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAGATAATGGGGTACCACCC	0.378																																																	0								ENSG00000099715																																			PCDH11Y	SO:0001583	missense	0			-	HGNC	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1700G>T	Y.37:g.4967352G>T	ENSP00000330552:p.Gly567Val	Somatic	0	16	0		0.603585664208657				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	5	54.55	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G578V	ENST00000333703.4	37	c.1733	CCDS14776.1	Y																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.378	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	protein_coding	OTTHUMT00000084979.2	G	NM_032973	-		4967352	1	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	SNP	0.997	T	T	4967352	G	T	4967352	3	4	25	1	0	0	0	0	1	0	0	0	11511	1232	43	3	1775	3	PCDH11Y	24	4967352	Missense_Mutation	SNP	G	TCGA-DX-A1L1-01A-11D-A24N-09		4967352	54406214	86	1805											
MEGF6	1953	genome.wustl.edu	37	chr1	3412562	3412562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgggtgcagttggggcCgaagcggccctgcggacagg	19	11	0	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:3412562C>T	ENST00000356575.4	-	30	3989	c.3763G>A	c.(3763-3765)Ggc>Agc	p.G1255S	MEGF6_ENST00000294599.4_Missense_Mutation_p.G1020S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1255	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGTTGGGGCCGAAGCGGCCC	0.721																																					Ovarian(73;978 3658)												0								ENSG00000162591						6	7	7					1																	3412562		1873	4030	5903	MEGF6	SO:0001583	missense	0			-	HGNC	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3763G>A	1.37:g.3412562C>T	ENSP00000348982:p.Gly1255Ser	Somatic	0	175	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	142	26.42	Q4AC86|Q5VV39	Missense_Mutation	SNP	40	0	0	39	17.02	8	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G1255S	ENST00000356575.4	37	c.3763	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572688	0.65765	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.85955	-2.05;-2.05	4.49	4.49	0.54785	Epidermal growth factor-like, type 3 (1);	0.124538	0.53938	D	0.000060	D	0.93772	0.8009	H	0.96239	3.79	0.48830	D	0.99971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93337	0.6706	10	0.33940	T	0.23	-26.5209	10.6343	0.45556	0.0:0.9109:0.0:0.089	.	1255;1020	O75095;O75095-2	MEGF6_HUMAN;.	S	1020;1255	ENSP00000294599:G1020S;ENSP00000348982:G1255S	ENSP00000294599:G1020S	G	-	1	0	MEGF6	3402422	0.978000	0.34361	0.823000	0.32752	0.349000	0.29174	3.158000	0.50723	2.334000	0.79466	0.555000	0.69702	GGC	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin		0.721	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	protein_coding	OTTHUMT00000354866.1	C	NM_001409	-		3412562	-1	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3412562	C	T	3412562	3	4	26	1	0	0	0	0	1	0	0	0	9464	652	23	1	894	1	MEGF6	1	3412562	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		3412562	245838059	1	1806											
CAMTA1	23261	genome.wustl.edu	37	chr1	7723664	7723664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaccaggtggaagtccccGacaccacccagagctcccct	8	19	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:7723664G>A	ENST00000303635.7	+	9	1264	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D353N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GGAAGTCCCCGACACCACCCA	0.657			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								ENSG00000171735						106	105	105					1																	7723664		2203	4300	6503	CAMTA1	SO:0001583	missense	0			-	HGNC	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.1057G>A	1.37:g.7723664G>A	ENSP00000306522:p.Asp353Asn	Somatic	0	55	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	29	0	0	34	17.07	7	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.D353N	ENST00000303635.7	37	c.1057	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.276166	0.80580	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.46819	0.86;0.86	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.53249	1.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.61797	-0.6989	10	0.34782	T	0.22	-23.0588	18.4285	0.90617	0.0:0.0:1.0:0.0	.	353	Q9Y6Y1	CMTA1_HUMAN	N	353	ENSP00000306522:D353N;ENSP00000402561:D353N	ENSP00000306522:D353N	D	+	1	0	CAMTA1	7646251	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.695000	0.98691	2.357000	0.79964	0.543000	0.68304	GAC	-	NULL		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	G	NM_015215	-		7723664	1	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7723664	G	A	7723664	3	1	26	1	0	0	0	0	1	0	0	0	2615	1058	37	1	1091	1	CAMTA1	1	7723664	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	4311102	7723664	241526957	2	1807											
KIAA2013	90231	genome.wustl.edu	37	chr1	11982747	11982747	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtactcgttgtagatgagCttgaagaggaagaggtggaa	15	4	0	5			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11982747C>G	ENST00000376572.3	-	2	2018	c.1833G>C	c.(1831-1833)aaG>aaC	p.K611N	KIAA2013_ENST00000376576.3_Missense_Mutation_p.K611N	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	611						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAGATGAGCTTGAAGAGGA	0.597																																																	0								ENSG00000116685						32	32	32					1																	11982747		2203	4300	6503	KIAA2013	SO:0001583	missense	0			-	HGNC	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1833G>C	1.37:g.11982747C>G	ENSP00000365756:p.Lys611Asn	Somatic	0	59	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	31	0	0	34	27.66	13	pfam_DUF2152	p.K611N	ENST00000376572.3	37	c.1833	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174122	0.57692	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.82	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70784	-0.4778	9	0.87932	D	0	-25.2767	6.746	0.23462	0.0:0.6253:0.0:0.3746	.	611;611	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	N	611	.	ENSP00000365756:K611N	K	-	3	2	KIAA2013	11905334	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.519000	0.22862	1.447000	0.47661	0.650000	0.86243	AAG	-	pfam_DUF2152		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	protein_coding	OTTHUMT00000006858.1	C	NM_138346	-		11982747	-1	no_errors	ENST00000376576	ensembl	human	known	74_37	missense	SNP	1.000	G	G	11982747	C	G	11982747	3	3	26	1	0	0	0	0	1	0	0	0	8269	796	28	4	79	4	KIAA2013	1	11982747	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	4259083	11982747	237267874	3	1808			1	13		4	4	801	C		6.280024e-09
KIAA2013	90231	genome.wustl.edu	37	chr1	11983047	11983047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggctggccacgggactcCacggacacgtgtaggtaggg	16	11	0	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11983047C>T	ENST00000376572.3	-	2	1718	c.1533G>A	c.(1531-1533)gtG>gtA	p.V511V	KIAA2013_ENST00000376576.3_Silent_p.V511V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	511						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACGGGACTCCACGGACACGT	0.622																																																	0								ENSG00000116685						35	34	35					1																	11983047		2202	4298	6500	KIAA2013	SO:0001819	synonymous_variant	0			-	HGNC	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1533G>A	1.37:g.11983047C>T		Somatic	0	50	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	52	16.13	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	18	0	0	32	25.00	11	pfam_DUF2152	p.V511	ENST00000376572.3	37	c.1533	CCDS141.1	1																																																																																			-	pfam_DUF2152		0.622	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	protein_coding	OTTHUMT00000006858.1	C	NM_138346	-		11983047	-1	no_errors	ENST00000376576	ensembl	human	known	74_37	silent	SNP	1.000	T	T	11983047	C	T	11983047	2	4	26	1	0	0	0	0	0	0	0	1	8269	581	21	2		2	KIAA2013	1	11983047	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	300	11983047	237267574	4	1809			1	13		4	4	801	C		6.280024e-09
KIAA2013	90231	genome.wustl.edu	37	chr1	11983413	11983413	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagttgagcgtcgactccatCtggtctcgctccctgtggct	11	13	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11983413C>G	ENST00000376572.3	-	2	1352	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	KIAA2013_ENST00000376576.3_Missense_Mutation_p.Q389H	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	389						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACTCCATCTGGTCTCGCT	0.642																																																	0								ENSG00000116685						71	61	65					1																	11983413		2203	4300	6503	KIAA2013	SO:0001583	missense	0			-	HGNC	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1167G>C	1.37:g.11983413C>G	ENSP00000365756:p.Gln389His	Somatic	0	98	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	87	13.00	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	23	0	0	36	16.28	7	pfam_DUF2152	p.Q389H	ENST00000376572.3	37	c.1167	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518005	0.27211	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	4.38	0.52667	.	0.345778	0.30142	N	0.010319	T	0.26304	0.0642	N	0.12182	0.205	0.33888	D	0.636955	B;B	0.23128	0.039;0.08	B;B	0.19946	0.023;0.027	T	0.24154	-1.0168	9	0.34782	T	0.22	-0.5783	7.4757	0.27374	0.0:0.7557:0.0:0.2443	.	389;389	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	H	389	.	ENSP00000365756:Q389H	Q	-	3	2	KIAA2013	11906000	0.810000	0.29049	1.000000	0.80357	0.764000	0.43329	-0.019000	0.12546	2.764000	0.94973	0.650000	0.86243	CAG	-	pfam_DUF2152		0.642	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	protein_coding	OTTHUMT00000006858.1	C	NM_138346	-		11983413	-1	no_errors	ENST00000376576	ensembl	human	known	74_37	missense	SNP	1.000	G	G	11983413	C	G	11983413	3	3	26	1	0	0	0	0	1	0	0	0	8269	912	32	4	745	4	KIAA2013	1	11983413	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	366	11983413	237267208	5	1810			1	13		4	4	801	C		6.280024e-09
KIAA2013	90231	genome.wustl.edu	37	chr1	11983547	11983547	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttcttcatttccactcCtgcaacaccatgaaagcggc	6	14	3	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11983547C>T	ENST00000376572.3	-	2	1219		c.e2-1		KIAA2013_ENST00000376576.3_Splice_Site	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013							integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTCCACTCCTGCAACACCA	0.552																																																	0								ENSG00000116685						128	123	124					1																	11983547		2203	4300	6503	KIAA2013	SO:0001630	splice_region_variant	0			-	HGNC	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1034-1G>A	1.37:g.11983547C>T		Somatic	0	82	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	67	22.99	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Splice_Site	SNP	36	0	0	31	16.22	6	-	e2-1	ENST00000376572.3	37	c.1034-1	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439006	0.43326	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4898	0.90843	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA2013	11906134	1.000000	0.71417	0.966000	0.40874	0.379000	0.30106	7.437000	0.80417	2.696000	0.92011	0.555000	0.69702	.	-	-		0.552	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	protein_coding	OTTHUMT00000006858.1	C	NM_138346	-	Intron	11983547	-1	no_errors	ENST00000376576	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	11983547	C	T	11983547	5	4	26	1	0	0	0	0	0	0	1	0	8269	695	24	2	879	2	KIAA2013	1	11983547	Splice_Site	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	134	11983547	237267074	6	1811			1	13		4	4	801	C		6.280024e-09
PADI4	23569	genome.wustl.edu	37	chr1	17668836	17668836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacagcgtggtcttcCgcgtggcgccctggatcatg	13	13	2	1	rs375905749		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:17668836C>T	ENST00000375448.4	+	8	900	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	292					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CGTGGTCTTCCGCGTGGCGCC	0.682																																																	0								ENSG00000159339	C	CYS/ARG	0,4406		0,0,2203	57	55	55		874	5	1	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	PADI4	NM_012387.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	292/664	17668836	1,13005	2203	4300	6503	PADI4	SO:0001583	missense	0			-	HGNC	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.874C>T	1.37:g.17668836C>T	ENSP00000364597:p.Arg292Cys	Somatic	0	68	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	67	27.96	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	27	0	0	29	17.14	6	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.R292C	ENST00000375448.4	37	c.874	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.936479	0.73442	0.0	1.16E-4	ENSG00000159339	ENST00000375448	T	0.35048	1.33	4.97	4.97	0.65823	Protein-arginine deiminase, C-terminal (1);Protein-arginine deiminase (PAD), central domain (1);	0.114454	0.64402	D	0.000019	T	0.70649	0.3248	H	0.95043	3.615	0.48901	D	0.999728	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.80654	-0.1286	10	0.87932	D	0	-9.9935	15.0236	0.71650	0.0:1.0:0.0:0.0	.	292;292	A8K392;Q9UM07	.;PADI4_HUMAN	C	292	ENSP00000364597:R292C	ENSP00000364597:R292C	R	+	1	0	PADI4	17541423	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	4.375000	0.59549	2.312000	0.78011	0.555000	0.69702	CGC	-	pfam_PAD_C,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.682	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	protein_coding	OTTHUMT00000006799.1	C	NM_012387	-		17668836	1	no_errors	ENST00000375448	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17668836	C	T	17668836	3	4	26	1	0	0	0	0	1	0	0	0	11382	652	23	1	904	1	PADI4	1	17668836	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	5685289	17668836	231581785	7	1812											
MAN1C1	57134	genome.wustl.edu	37	chr1	26098237	26098237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagacagatatggaggctAaaaatatgtactacgaagcc	10	7	0	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:26098237A>G	ENST00000374332.4	+	8	1561	c.1231A>G	c.(1231-1233)Aaa>Gaa	p.K411E	MAN1C1_ENST00000263979.3_Missense_Mutation_p.K231E|MAN1C1_ENST00000374329.1_Missense_Mutation_p.K182E	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	411					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TATGGAGGCTAAAAATATGTA	0.517																																																	0								ENSG00000117643						103	99	100					1																	26098237		2203	4300	6503	MAN1C1	SO:0001583	missense	0			-	HGNC	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1231A>G	1.37:g.26098237A>G	ENSP00000363452:p.Lys411Glu	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	26	0	0	36	21.74	10	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.K411E	ENST00000374332.4	37	c.1231	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.289324	0.59976	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.72282	-0.64;-0.64;-0.64	5.26	5.26	0.73747	.	0.099081	0.64402	D	0.000002	T	0.70011	0.3175	L	0.57130	1.785	0.41857	D	0.990205	B	0.30727	0.292	B	0.35859	0.212	T	0.69335	-0.5172	10	0.37606	T	0.19	.	15.462	0.75366	1.0:0.0:0.0:0.0	.	411	Q9NR34	MA1C1_HUMAN	E	411;231;231;182	ENSP00000363452:K411E;ENSP00000263979:K231E;ENSP00000363449:K182E	ENSP00000263979:K231E	K	+	1	0	MAN1C1	25970824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.192000	0.77771	2.122000	0.65172	0.482000	0.46254	AAA	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.517	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	protein_coding	OTTHUMT00000012828.3	A	NM_020379	-		26098237	1	no_errors	ENST00000374332	ensembl	human	known	74_37	missense	SNP	0.994	G	G	26098237	A	G	26098237	3	3	26	1	0	0	0	0	1	0	0	0	9215	363	13	5	1261	5	MAN1C1	1	26098237	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	8429401	26098237	223152384	8	1813											
IFI6	2537	genome.wustl.edu	37	chr1	27995782	27995782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccactgcaagtgaagAgcagcaggtagcacaagaaa	10	12	0	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:27995782A>C	ENST00000361157.6	-	2	171	c.44T>G	c.(43-45)cTc>cGc	p.L15R	RP11-288L9.4_ENST00000430683.1_RNA|IFI6_ENST00000362020.4_Missense_Mutation_p.L15R|IFI6_ENST00000339145.4_Missense_Mutation_p.L15R	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	15					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAAGTGAAGAGCAGCAGGTA	0.607											OREG0013292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000126709						145	105	119					1																	27995782		2123	4160	6283	IFI6	SO:0001583	missense	0			-	HGNC	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"interferon, alpha-inducible protein (clone IFI-6-16)"	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.44T>G	1.37:g.27995782A>C	ENSP00000354736:p.Leu15Arg	Somatic	0	110	0	798	0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	96	16.38	Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	29	0	0	26	18.75	6	pfam_IFI6/IFI27	p.L15R	ENST00000361157.6	37	c.44	CCDS306.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066799	0.76301	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.46819	0.87;1.13;0.86	3.55	2.42	0.29668	.	0.427260	0.17071	N	0.188172	T	0.52041	0.1710	L	0.36672	1.1	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.946;0.946;0.976	T	0.33471	-0.9867	10	0.87932	D	0	.	5.3367	0.15961	0.8663:0.0:0.1337:0.0	.	15;15;15	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	R	15	ENSP00000354736:L15R;ENSP00000342513:L15R;ENSP00000355152:L15R	ENSP00000342513:L15R	L	-	2	0	IFI6	27868369	0.096000	0.21769	0.001000	0.08648	0.941000	0.58515	3.063000	0.49978	0.562000	0.29204	0.460000	0.39030	CTC	-	NULL		0.607	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFI6	protein_coding	OTTHUMT00000009780.1	A	NM_022873	-		27995782	-1	no_errors	ENST00000339145	ensembl	human	known	74_37	missense	SNP	0.003	C	C	27995782	A	C	27995782	3	2	26	1	0	0	0	0	1	0	0	0	7521	304	11	5	388	5	IFI6	1	27995782	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	1897545	27995782	221254839	9	1814											
USP24	23358	genome.wustl.edu	37	chr1	55534764	55534764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaactcaccaatcatcAtgggagattctgaaccctgc	6	13	5	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:55534764A>G	ENST00000294383.6	-	68	7816	c.7817T>C	c.(7816-7818)aTg>aCg	p.M2606T	USP24_ENST00000484447.1_5'Flank|USP24_ENST00000407756.1_Missense_Mutation_p.M2446T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2606					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						ACCAATCATCATGGGAGATTC	0.428																																																	0								ENSG00000162402						121	114	116					1																	55534764		1954	4154	6108	USP24	SO:0001583	missense	0			-	HGNC	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.7817T>C	1.37:g.55534764A>G	ENSP00000294383:p.Met2606Thr	Somatic	0	27	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	40	0	0	46	17.86	10	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.M2446T	ENST00000294383.6	37	c.7337	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660267	0.67586	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02395	4.31;4.34	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.03305	0.0096	L	0.40543	1.245	0.58432	D	0.999999	B	0.19817	0.039	B	0.15052	0.012	T	0.47573	-0.9107	10	0.12430	T	0.62	.	14.6202	0.68579	1.0:0.0:0.0:0.0	.	2446	B7WPF4	.	T	2606;2446	ENSP00000294383:M2606T;ENSP00000385700:M2446T	ENSP00000294383:M2606T	M	-	2	0	USP24	55307352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.159000	0.89651	2.023000	0.59567	0.533000	0.62120	ATG	-	NULL		0.428	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	protein_coding	OTTHUMT00000022275.2	A		-		55534764	-1	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	SNP	1.000	G	G	55534764	A	G	55534764	3	3	26	1	0	0	0	0	1	0	0	0	17062	217	8	5	49	5	USP24	1	55534764	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	27538982	55534764	193715857	10	1815											
SYT6	148281	genome.wustl.edu	37	chr1	114641799	114641799	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagatgatggcctcattgtaGacaggattgagagtgttttt	12	4	1	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:114641799G>C	ENST00000610222.1	-	5	1427	c.1281C>G	c.(1279-1281)gtC>gtG	p.V427V	SYT6_ENST00000609117.1_Silent_p.V342V|SYT6_ENST00000607941.1_Silent_p.V342V|SYT6_ENST00000393296.1_Silent_p.V427V|SYT6_ENST00000369547.1_Silent_p.V342V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	427	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CCTCATTGTAGACAGGATTGA	0.473																																																	0								ENSG00000134207						295	228	251					1																	114641799		2203	4300	6503	SYT6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1281C>G	1.37:g.114641799G>C		Somatic	0	183	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	143	17.34	B1AMB8|B3KPK1	Silent	SNP	33	0	0	35	22.22	10	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.V427	ENST00000610222.1	37	c.1281		1																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.473	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	protein_coding	OTTHUMT00000314819.2	G	NM_205848	-		114641799	-1	no_errors	ENST00000393296	ensembl	human	known	74_37	silent	SNP	1.000	C	C	114641799	G	C	114641799	2	2	26	1	0	0	0	0	0	0	0	1	15485	929	33	4		4	SYT6	1	114641799	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	59107035	114641799	134608822	11	1816											
NBPF10	100132406	genome.wustl.edu	37	chr1	145368496	145368496	+	Missense_Mutation	SNP	G	G	C													aagtcttacaggactcactgGatagatgttattcgactccg					rs587635605	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:145368496G>C	ENST00000369339.3	+	17	2081	c.1828G>C	c.(1828-1830)Gat>Cat	p.D610H	NBPF10_ENST00000369338.1_Missense_Mutation_p.D608H|NBPF10_ENST00000342960.5_Missense_Mutation_p.D3492H			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	787	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGGATAGATGTTA	0.448													.|||	2	0.000399361	8e-04	0.0014	5008	,	,		49467	0		0	False		,,,				2504	0																0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1828G>C	1.37:g.145368496G>C	ENSP00000358345:p.Asp610His	Somatic	0	238	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	759	9.74	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	68	0	0	310	9.09	31	pfam_NBPF_dom	p.D3492H	ENST00000369339.3	37	c.10474		1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407133	0.25378	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.13538	2.58;2.58	0.732	0.732	0.18283	.	.	.	.	.	T	0.22282	0.0537	M	0.87682	2.9	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02925	-1.1093	9	0.87932	D	0	.	4.8119	0.13347	0.0:0.0:1.0:0.0	.	556	Q4VC10	.	H	612;608;3492	ENSP00000358344:D608H;ENSP00000345684:D3492H	ENSP00000345684:D3492H	D	+	1	0	NBPF10	144079853	0.976000	0.34144	0.011000	0.14972	0.004000	0.04260	1.237000	0.32695	0.689000	0.31550	0.384000	0.25694	GAT	-	pfam_NBPF_dom		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	protein_coding	OTTHUMT00000038550.3	G	NM_001039703	-		145368496	1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.012	C	C	145368496	G	C	145368496	3	2	26	1	0	0	0	0	1	0	0	0	10195	1174	41	4	10808	4	NBPF10	1	145368496	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	30726697	145368496	103882125	12	1817	22	2									
NBPF10	100132406	genome.wustl.edu	37	chr1	145368500	145368500	+	Missense_Mutation	SNP	G	G	T													cttacaggactcactggataGatgttattcgactccgtcaa							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:145368500G>T	ENST00000369339.3	+	17	2085	c.1832G>T	c.(1831-1833)aGa>aTa	p.R611I	NBPF10_ENST00000369338.1_Missense_Mutation_p.R609I|NBPF10_ENST00000342960.5_Missense_Mutation_p.R3493I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	788	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCACTGGATAGATGTTATTCG	0.458																																																	0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1832G>T	1.37:g.145368500G>T	ENSP00000358345:p.Arg611Ile	Somatic	0	241	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	86	787	9.85	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	69	0	0	311	9.83	34	pfam_NBPF_dom	p.R3493I	ENST00000369339.3	37	c.10478		1	.	.	.	.	.	.	.	.	.	.	.	4.244	0.044173	0.08196	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.08546	3.08;3.08	0.732	-1.46	0.08800	.	.	.	.	.	T	0.02888	0.0086	M	0.71296	2.17	0.09310	N	1	B	0.24576	0.106	B	0.28011	0.085	T	0.42515	-0.9447	9	0.56958	D	0.05	.	2.2521	0.04046	0.4057:0.31:0.2844:0.0	.	557	Q4VC10	.	I	613;609;3493	ENSP00000358344:R609I;ENSP00000345684:R3493I	ENSP00000345684:R3493I	R	+	2	0	NBPF10	144079857	0.736000	0.28164	0.000000	0.03702	0.000000	0.00434	-0.562000	0.05950	-1.301000	0.02338	-0.540000	0.04249	AGA	-	pfam_NBPF_dom		0.458	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	protein_coding	OTTHUMT00000038550.3	G	NM_001039703	-		145368500	1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.000	T	T	145368500	G	T	145368500	3	4	26	1	0	0	0	0	1	0	0	0	10195	942	33	3	10812	3	NBPF10	1	145368500	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	4	145368500	103882121	13	1818	22	2									
NBPF10	100132406	genome.wustl.edu	37	chr1	145368529	145368529	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgactccgtcaatgtactttGaactacctgactcattccag	6	13	2	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:145368529G>C	ENST00000369339.3	+	17	2114	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q	NBPF10_ENST00000369338.1_Missense_Mutation_p.E619Q|NBPF10_ENST00000342960.5_Missense_Mutation_p.E3503Q			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	798	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AATGTACTTTGAACTACCTGA	0.448																																																	0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1861G>C	1.37:g.145368529G>C	ENSP00000358345:p.Glu621Gln	Somatic	0	260	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	935	10.01	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	59	0	0	307	9.44	32	pfam_NBPF_dom	p.E3503Q	ENST00000369339.3	37	c.10507		1	.	.	.	.	.	.	.	.	.	.	.	7.478	0.648150	0.14516	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.08634	3.07;3.07	0.732	0.732	0.18283	.	.	.	.	.	T	0.06234	0.0161	M	0.62209	1.925	0.09310	N	1	B	0.31026	0.304	P	0.46208	0.507	T	0.45527	-0.9255	9	0.42905	T	0.14	.	4.8119	0.13347	0.0:0.0:1.0:0.0	.	567	Q4VC10	.	Q	623;619;3503	ENSP00000358344:E619Q;ENSP00000345684:E3503Q	ENSP00000345684:E3503Q	E	+	1	0	NBPF10	144079886	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.227000	0.17795	0.689000	0.31550	0.384000	0.25694	GAA	-	pfam_NBPF_dom		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	protein_coding	OTTHUMT00000038550.3	G	NM_001039703	-		145368529	1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.004	C	C	145368529	G	C	145368529	3	2	26	1	0	0	0	0	1	0	0	0	10195	1291	45	4	10841	4	NBPF10	1	145368529	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	29	145368529	103882092	14	1819											
PKLR	5313	genome.wustl.edu	37	chr1	155265486	155265486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggagaagttgagtcgCgcaatgttcatcccggcctt	13	11	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:155265486C>T	ENST00000342741.4	-	3	383	c.345G>A	c.(343-345)gcG>gcA	p.A115A	PKLR_ENST00000392414.3_Silent_p.A84A	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	115			A -> P (in PKRD; Val de Marne).		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGTTGAGTCGCGCAATGTTCA	0.642																																																	0								ENSG00000143627						115	92	100					1																	155265486		2203	4300	6503	PKLR	SO:0001819	synonymous_variant	0			-	HGNC	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.345G>A	1.37:g.155265486C>T		Somatic	0	47	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	O75758|P11973	Silent	SNP	26	0	0	37	17.78	8	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.A115	ENST00000342741.4	37	c.345	CCDS1109.1	1																																																																																			-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase		0.642	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	protein_coding	OTTHUMT00000087407.2	C	NM_000298	-		155265486	-1	no_errors	ENST00000342741	ensembl	human	known	74_37	silent	SNP	0.915	T	T	155265486	C	T	155265486	2	4	26	1	0	0	0	0	0	0	0	1	11978	755	27	1		1	PKLR	1	155265486	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	9896957	155265486	93985135	15	1820											
TAGLN2	8407	genome.wustl.edu	37	chr1	159889571	159889572	+	In_Frame_Ins	INS	-	-	TAA													atggtggaggcctggatcttINSctttactggggcctgcccct							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:159889571_159889572insTAA	ENST00000368097.4	-	3	544_545	c.234_235insTTA	c.(232-237)aagaag>aagTTAaag	p.78_79KK>KLK	TAGLN2_ENST00000368096.1_In_Frame_Ins_p.99_100KK>KLK|TAGLN2_ENST00000320307.4_In_Frame_Ins_p.78_79KK>KLK|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTGGATCTTCTTTACTGGGG	0.53																																																	0								ENSG00000158710																																			TAGLN2	SO:0001652	inframe_insertion	0				HGNC	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"SM22-alpha homolog"	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.234_235insTTA	1.37:g.159889571_159889572insTAA	ENSP00000357077:p.Lys78_Lys79insLeu	Somatic	0	26	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	90	17.43	E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	In_Frame_Ins	INS	33	0	0	109	19.85	27	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.99in_frame_insL	ENST00000368097.4	37	c.298_297	CCDS1189.1	1																																																																																			-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.53	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	protein_coding	OTTHUMT00000059105.1	-	NM_003564			159889572	-1	no_errors	ENST00000368096	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	TAA	TAA	159889572	-	TAA	159889571	7	5	26	1	0	1	1	0	0	0	0	0	15546	1792	62	0	376	0	TAGLN2	1	159889571	In_Frame_Ins	INS	-	TCGA-DX-A1L2-01A-22D-A24N-09	4624085	159889571	89361050	16	1821											
PPOX	5498	genome.wustl.edu	37	chr1	161140426	161140426	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttaggtgatgctgggaggttCctggttacagacactggagg	16	6	0	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:161140426C>G	ENST00000367999.4	+	11	1381	c.1115C>G	c.(1114-1116)tCc>tGc	p.S372C	PPOX_ENST00000544598.1_Missense_Mutation_p.S80C|PPOX_ENST00000535223.1_Missense_Mutation_p.S35C|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000352210.5_Missense_Mutation_p.S372C|PPOX_ENST00000432542.2_Missense_Mutation_p.S117C	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	372					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGGGAGGTTCCTGGTTACAG	0.527																																																	0								ENSG00000143224						114	118	117					1																	161140426		2203	4300	6503	PPOX	SO:0001583	missense	0			-	HGNC	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1115C>G	1.37:g.161140426C>G	ENSP00000356978:p.Ser372Cys	Somatic	0	84	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	102	421	19.47	D3DVG0|Q5VTW8	Missense_Mutation	SNP	37	0	0	226	23.65	70	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.S372C	ENST00000367999.4	37	c.1115	CCDS1221.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.173987|3.173987	0.57692|0.57692	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935;ENST00000535223;ENST00000432542	.|D;D;D;D;D	.|0.98345	.|-3.02;-3.02;-4.88;-3.82;-3.41	5.94|5.94	5.01|5.01	0.66863|0.66863	.|Amine oxidase (1);	.|0.107337	.|0.64402	.|D	.|0.000006	D|D	0.97579|0.97579	0.9207|0.9207	L|L	0.57536|0.57536	1.79|1.79	0.28982|0.28982	N|N	0.888571|0.888571	.|D;D;D;D;D;P	.|0.67145	.|0.996;0.976;0.978;0.983;0.985;0.91	.|P;P;B;P;P;P	.|0.62649	.|0.905;0.762;0.361;0.494;0.699;0.592	D|D	0.95056|0.95056	0.8191|0.8191	5|10	.|0.39692	.|T	.|0.17	-0.8458|-0.8458	13.8705|13.8705	0.63615|0.63615	0.1587:0.8413:0.0:0.0|0.1587:0.8413:0.0:0.0	.|.	.|117;339;80;43;210;372	.|B4DQQ7;B4DY76;F5GZT7;Q96SE3;B3KT30;P50336	.|.;.;.;.;.;PPOX_HUMAN	A|C	125;95|372;372;80;339;35;117	.|ENSP00000343943:S372C;ENSP00000356978:S372C;ENSP00000444216:S80C;ENSP00000443769:S35C;ENSP00000396841:S117C	.|ENSP00000343943:S372C	P|S	+|+	1|2	0|0	PPOX|PPOX	159407050|159407050	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.919000|0.919000	0.55068|0.55068	4.031000|4.031000	0.57267|0.57267	1.460000|1.460000	0.47911|0.47911	0.650000|0.650000	0.86243|0.86243	CCT|TCC	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase		0.527	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	protein_coding	OTTHUMT00000082993.1	C	NM_000309	-		161140426	1	no_errors	ENST00000352210	ensembl	human	known	74_37	missense	SNP	0.999	G	G	161140426	C	G	161140426	3	3	26	1	0	0	0	0	1	0	0	0	12353	855	30	4	1153	4	PPOX	1	161140426	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	1250855	161140426	88110195	17	1822											
DUSP27	92235	genome.wustl.edu	37	chr1	167096341	167096341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagcgggagcattcCcctgtctgcgttctggtctg	13	14	3	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096341C>G	ENST00000361200.2	+	6	2139	c.1973C>G	c.(1972-1974)cCc>cGc	p.P658R	DUSP27_ENST00000271385.5_Missense_Mutation_p.P658R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.P658R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	658					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAGCATTCCCCTGTCTGCG	0.652																																																	0								ENSG00000198842						45	41	43					1																	167096341		2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1973C>G	1.37:g.167096341C>G	ENSP00000354483:p.Pro658Arg	Somatic	0	20	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	107	14.96	A0AUM4|Q9C074	Missense_Mutation	SNP	16	0	0	192	15.04	34	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.P658R	ENST00000361200.2	37	c.1973	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977203	0.34848	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.15256	2.44;2.44;2.44	5.1	3.21	0.36854	.	0.427328	0.20047	N	0.100385	T	0.27027	0.0662	M	0.71581	2.175	0.48830	D	0.999713	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.87932	D	0	-11.6544	10.6082	0.45406	0.0:0.7945:0.133:0.0725	.	658	Q5VZP5	DUS27_HUMAN	R	658	ENSP00000354483:P658R;ENSP00000271385:P658R;ENSP00000404874:P658R	ENSP00000271385:P658R	P	+	2	0	DUSP27	165362965	1.000000	0.71417	0.989000	0.46669	0.155000	0.21991	5.687000	0.68219	0.536000	0.28733	-0.179000	0.13096	CCC	-	NULL		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	C	NM_001080426	-		167096341	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	1.000	G	G	167096341	C	G	167096341	3	3	26	1	0	0	0	0	1	0	0	0	4826	623	22	4	1991	4	DUSP27	1	167096341	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	5955915	167096341	82154280	18	1823			2	14	155112794	4	4	630	C		3.050938e-09
DUSP27	92235	genome.wustl.edu	37	chr1	167096495	167096495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccacacccctgcctaaCctgccagtggggcctggaga	10	18	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096495C>A	ENST00000361200.2	+	6	2293	c.2127C>A	c.(2125-2127)aaC>aaA	p.N709K	DUSP27_ENST00000271385.5_Missense_Mutation_p.N709K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.N709K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	709					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCTGCCTAACCTGCCAGTGG	0.557																																																	0								ENSG00000198842						61	63	62					1																	167096495		2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2127C>A	1.37:g.167096495C>A	ENSP00000354483:p.Asn709Lys	Somatic	0	19	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	207	15.16	A0AUM4|Q9C074	Missense_Mutation	SNP	33	0	0	220	12.70	32	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.N709K	ENST00000361200.2	37	c.2127	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892175	0.33442	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03580	3.88;3.88;3.88	4.68	4.68	0.58851	.	2.232180	0.01612	N	0.022560	T	0.02156	0.0067	L	0.56769	1.78	0.28750	N	0.901481	B	0.32245	0.361	B	0.28139	0.086	T	0.35624	-0.9781	10	0.66056	D	0.02	-23.2929	5.5369	0.17016	0.0:0.7611:0.0:0.2389	.	709	Q5VZP5	DUS27_HUMAN	K	709	ENSP00000354483:N709K;ENSP00000271385:N709K;ENSP00000404874:N709K	ENSP00000271385:N709K	N	+	3	2	DUSP27	165363119	0.131000	0.22433	0.970000	0.41538	0.986000	0.74619	0.420000	0.21263	2.418000	0.82041	0.643000	0.83706	AAC	-	NULL		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	C	NM_001080426	-		167096495	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	0.995	A	A	167096495	C	A	167096495	3	1	26	1	0	0	0	0	1	0	0	0	4826	506	18	3	2145	3	DUSP27	1	167096495	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	154	167096495	82154126	19	1824			2	14	155112794	4	4	630	C		3.050938e-09
DUSP27	92235	genome.wustl.edu	37	chr1	167096832	167096832	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtgagggggaccagcaagCccatcttcagcctctttgct	11	12	3	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096832C>G	ENST00000361200.2	+	6	2630	c.2464C>G	c.(2464-2466)Ccc>Gcc	p.P822A	DUSP27_ENST00000271385.5_Missense_Mutation_p.P822A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.P822A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	822					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACCAGCAAGCCCATCTTCAG	0.537																																																	0								ENSG00000198842						89	82	84					1																	167096832		2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2464C>G	1.37:g.167096832C>G	ENSP00000354483:p.Pro822Ala	Somatic	0	26	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	176	13.30	A0AUM4|Q9C074	Missense_Mutation	SNP	29	0	0	234	12.69	34	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.P822A	ENST00000361200.2	37	c.2464	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989424	0.74589	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.15718	2.4;2.4;2.4	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.36468	0.0968	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.20571	-1.0271	10	0.87932	D	0	-20.6101	19.0827	0.93188	0.0:1.0:0.0:0.0	.	822	Q5VZP5	DUS27_HUMAN	A	822	ENSP00000354483:P822A;ENSP00000271385:P822A;ENSP00000404874:P822A	ENSP00000271385:P822A	P	+	1	0	DUSP27	165363456	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.476000	0.81055	2.476000	0.83614	0.551000	0.68910	CCC	-	NULL		0.537	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	C	NM_001080426	-		167096832	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	1.000	G	G	167096832	C	G	167096832	3	3	26	1	0	0	0	0	1	0	0	0	4826	739	26	4	2482	4	DUSP27	1	167096832	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	337	167096832	82153789	20	1825			2	14	155112794	4	4	630	C		3.050938e-09
DUSP27	92235	genome.wustl.edu	37	chr1	167096970	167096970	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagacaacaaacgcagctccCtcttcaagaagaagaaggtc	8	12	2	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096970C>G	ENST00000361200.2	+	6	2768	c.2602C>G	c.(2602-2604)Ctc>Gtc	p.L868V	DUSP27_ENST00000271385.5_Missense_Mutation_p.L868V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.L868V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	868					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACGCAGCTCCCTCTTCAAGAA	0.507																																																	0								ENSG00000198842						78	65	70					1																	167096970		2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2602C>G	1.37:g.167096970C>G	ENSP00000354483:p.Leu868Val	Somatic	0	36	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	164	11.29	A0AUM4|Q9C074	Missense_Mutation	SNP	28	0	0	207	12.66	30	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.L868V	ENST00000361200.2	37	c.2602	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848805	0.51164	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05855	3.38;3.38;3.38	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000011	T	0.09905	0.0243	M	0.67953	2.075	0.37061	D	0.898052	D	0.62365	0.991	P	0.58210	0.835	T	0.00915	-1.1516	10	0.87932	D	0	-11.3903	8.1053	0.30881	0.0:0.7351:0.1439:0.121	.	868	Q5VZP5	DUS27_HUMAN	V	868	ENSP00000354483:L868V;ENSP00000271385:L868V;ENSP00000404874:L868V	ENSP00000271385:L868V	L	+	1	0	DUSP27	165363594	0.990000	0.36364	0.998000	0.56505	0.917000	0.54804	2.223000	0.42936	2.605000	0.88082	0.643000	0.83706	CTC	-	NULL		0.507	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	C	NM_001080426	-		167096970	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	0.994	G	G	167096970	C	G	167096970	3	3	26	1	0	0	0	0	1	0	0	0	4826	681	24	4	2620	4	DUSP27	1	167096970	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	138	167096970	82153651	21	1826			2	14	155112794	4	4	630	C		3.050938e-09
NMNAT2	23057	genome.wustl.edu	37	chr1	183273820	183273820	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgagagagtaacaaAcacttcccagagcccctggc	8	15	1	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:183273820A>C	ENST00000287713.6	-	2	420				NMNAT2_ENST00000294868.4_Missense_Mutation_p.F19V	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGAGTAACAAACACTTCCCAG	0.537																																																	0								ENSG00000157064						151	139	143					1																	183273820		2203	4300	6503	NMNAT2	SO:0001627	intron_variant	0			-	HGNC	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.86-10892T>G	1.37:g.183273820A>C		Somatic	0	36	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	23	45.24	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	26	0	0	28	31.71	13	pfam_Cyt_trans-like	p.F19V	ENST00000287713.6	37	c.55	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	.	6.485	0.457592	0.12342	.	.	ENSG00000157064	ENST00000294868	D	0.96940	-4.18	3.78	2.64	0.31445	.	.	.	.	.	D	0.92384	0.7583	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	D	0.85921	0.1446	8	0.87932	D	0	.	5.3862	0.16220	0.8622:0.0:0.1378:0.0	.	19	Q9BZQ4-2	.	V	19	ENSP00000294868:F19V	ENSP00000294868:F19V	F	-	1	0	NMNAT2	181540443	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.301000	0.08232	0.622000	0.30249	0.459000	0.35465	TTT	-	NULL		0.537	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	protein_coding	OTTHUMT00000086255.1	A		-		183273820	-1	no_errors	ENST00000294868	ensembl	human	known	74_37	missense	SNP	0.002	C	C	183273820	A	C	183273820	1	2	26	0	1	0	0	0	0	0	0	0	10501	43	2	5		5	NMNAT2	1	183273820	Intron	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	16176850	183273820	65976801	22	1827											
ADAM17	6868	genome.wustl.edu	37	chr2	9630591	9630591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtctggggcgcaggAaagggtttgataatgcgaac	16	7	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:9630591A>G	ENST00000310823.3	-	19	2372	c.2190T>C	c.(2188-2190)ttT>ttC	p.F730F	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	730					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGGCGCAGGAAAGGGTTTGA	0.532																																																	0								ENSG00000151694						67	62	64					2																	9630591		2203	4300	6503	ADAM17	SO:0001819	synonymous_variant	0			-	HGNC	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.2190T>C	2.37:g.9630591A>G		Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	O60226	Silent	SNP	34	0	0	21	40.00	14	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F730	ENST00000310823.3	37	c.2190	CCDS1665.1	2																																																																																			-	NULL		0.532	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	protein_coding	OTTHUMT00000206857.1	A		-		9630591	-1	no_errors	ENST00000310823	ensembl	human	known	74_37	silent	SNP	0.924	G	G	9630591	A	G	9630591	2	3	26	1	0	0	0	0	0	0	0	1	238	243	9	5		5	ADAM17	2	9630591	Silent	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09		9630591	233568782	23	1828											
ADAM17	6868	genome.wustl.edu	37	chr2	9675993	9675993	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattcggccccatctgtgttGattctgattataacatcatc	6	10	3	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:9675993G>T	ENST00000310823.3	-	4	602	c.420C>A	c.(418-420)atC>atA	p.I140I	ADAM17_ENST00000497134.1_Silent_p.I140I	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	140					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CATCTGTGTTGATTCTGATTA	0.318																																																	0								ENSG00000151694						56	58	57					2																	9675993		2202	4296	6498	ADAM17	SO:0001819	synonymous_variant	0			-	HGNC	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.420C>A	2.37:g.9675993G>T		Somatic	0	75	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	O60226	Silent	SNP	22	0	0	20	56.52	26	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.I140	ENST00000310823.3	37	c.420	CCDS1665.1	2																																																																																			-	pfam_Peptidase_M12B_N		0.318	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	protein_coding	OTTHUMT00000206857.1	G		-		9675993	-1	no_errors	ENST00000310823	ensembl	human	known	74_37	silent	SNP	1.000	T	T	9675993	G	T	9675993	2	4	26	1	0	0	0	0	0	0	0	1	238	1280	45	3		3	ADAM17	2	9675993	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	45402	9675993	233523380	24	1829											
PCYOX1	51449	genome.wustl.edu	37	chr2	70504006	70504006	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaactttgatcctccaattGaggaattccatcaatattat	4	9	2	2	rs200244897		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:70504006G>T	ENST00000433351.2	+	6	1028	c.1000G>T	c.(1000-1002)Gag>Tag	p.E334*	PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E257*|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E256*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	334					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TCCTCCAATTGAGGAATTCCA	0.368																																																	0								ENSG00000116005						57	59	58					2																	70504006		2203	4300	6503	PCYOX1	SO:0001587	stop_gained	0			-	HGNC	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1000G>T	2.37:g.70504006G>T	ENSP00000387654:p.Glu334*	Somatic	0	54	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	42	0	0	45	21.05	12	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.E334*	ENST00000433351.2	37	c.1000	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.330990	0.95733	.	.	ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138	.	.	.	5.65	3.77	0.43336	.	0.297894	0.37623	N	0.002019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-22.7371	8.2983	0.31999	0.0848:0.3812:0.534:0.0	.	.	.	.	X	257;334;256	.	ENSP00000387654:E334X	E	+	1	0	PCYOX1	70357510	0.091000	0.21658	1.000000	0.80357	0.989000	0.77384	1.034000	0.30204	1.608000	0.50180	-0.176000	0.13171	GAG	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.368	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	protein_coding	OTTHUMT00000251872.3	G	NM_016297	rs200244897		70504006	1	no_errors	ENST00000433351	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	70504006	G	T	70504006	4	4	26	1	0	0	0	0	0	1	0	0	11610	1291	45	3	1022	3	PCYOX1	2	70504006	Nonsense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	60828013	70504006	172695367	25	1830											
EXOC6B	23233	genome.wustl.edu	37	chr2	72411239	72411239	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagcagtcactgggtttacCcggaggtacttgcagttggg	15	8	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:72411239C>G	ENST00000272427.6	-	21	2404	c.2274G>C	c.(2272-2274)cgG>cgC	p.R758R	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	758					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTGGGTTTACCCGGAGGTACT	0.517																																																	0								ENSG00000144036						46	45	45					2																	72411239		1937	4123	6060	EXOC6B	SO:0001819	synonymous_variant	0			-	HGNC	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2274G>C	2.37:g.72411239C>G		Somatic	0	54	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	B8ZZY3	Silent	SNP	32	0	0	25	30.56	11	pfam_Sec15,pirsf_Sec15	p.R758	ENST00000272427.6	37	c.2274	CCDS46333.1	2																																																																																			-	pfam_Sec15,pirsf_Sec15		0.517	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	protein_coding	OTTHUMT00000327558.1	C	XM_039570	-		72411239	-1	no_errors	ENST00000272427	ensembl	human	known	74_37	silent	SNP	0.622	G	G	72411239	C	G	72411239	2	3	26	1	0	0	0	0	0	0	0	1	5311	610	22	4		4	EXOC6B	2	72411239	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	1907233	72411239	170788134	26	1831											
TXNDC9	10190	genome.wustl.edu	37	chr2	99944045	99944045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaccacattttcactctcCttgacttcttgaaaaaagtc	3	12	3	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:99944045C>T	ENST00000264255.3	-	3	516	c.261G>A	c.(259-261)aaG>aaA	p.K87K	TXNDC9_ENST00000409434.1_Silent_p.K87K|TXNDC9_ENST00000434323.1_Silent_p.K87K	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	87	Thioredoxin.				cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						TTTCACTCTCCTTGACTTCTT	0.373																																																	0								ENSG00000115514						158	144	149					2																	99944045		2203	4300	6503	TXNDC9	SO:0001819	synonymous_variant	0			-	HGNC	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.261G>A	2.37:g.99944045C>T		Somatic	0	65	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	57	16.18	B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Silent	SNP	29	0	0	31	27.91	12	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.K87	ENST00000264255.3	37	c.261	CCDS2044.1	2																																																																																			-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.373	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC9	protein_coding	OTTHUMT00000253129.1	C	NM_005783	-		99944045	-1	no_errors	ENST00000264255	ensembl	human	known	74_37	silent	SNP	1.000	T	T	99944045	C	T	99944045	2	4	26	1	0	0	0	0	0	0	0	1	16809	680	24	2		2	TXNDC9	2	99944045	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	27532806	99944045	143255328	27	1832											
SP3	6670	genome.wustl.edu	37	chr2	174819714	174819715	+	Frame_Shift_Ins	INS	-	-	T													agtgcttagactaactggagINSttgaagtgaaggctccacct					rs555091832		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:174819714_174819715insT	ENST00000310015.6	-	4	2055_2056	c.1525_1526insA	c.(1525-1527)actfs	p.T509fs	SP3_ENST00000418194.2_Frame_Shift_Ins_p.T441fs|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Frame_Shift_Ins_p.T456fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	509					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTAACTGGAGTTGAAGTGAAG	0.441																																																	0								ENSG00000172845																																			SP3	SO:0001589	frameshift_variant	0				HGNC	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1526dupA	2.37:g.174819716_174819716dupT	ENSP00000310301:p.Thr509fs	Somatic	0	58	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Ins	INS	18	0	0	35	20.45	9	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T509fs	ENST00000310015.6	37	c.1526_1525	CCDS2254.1	2																																																																																			-	NULL		0.441	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	protein_coding	OTTHUMT00000255452.1	-	NM_003111			174819715	-1	no_errors	ENST00000310015	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	174819715	-	T	174819714	7	5	26	1	0	1	1	0	0	0	0	0	14973	1029	36	0	835	0	SP3	2	174819714	Frame_Shift_Ins	INS	-	TCGA-DX-A1L2-01A-22D-A24N-09	74875669	174819714	68379659	28	1833											
NRP2	8828	genome.wustl.edu	37	chr2	206588625	206588625	+	Missense_Mutation	SNP	T	T	A													cggtggccaaggatggcttcTctgcgcgttactacctggtc							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:206588625T>A	ENST00000357785.5	+	5	812	c.781T>A	c.(781-783)Tct>Act	p.S261T	NRP2_ENST00000355117.4_Missense_Mutation_p.S261T|NRP2_ENST00000272849.3_Missense_Mutation_p.S261T|NRP2_ENST00000540178.1_Missense_Mutation_p.S261T|NRP2_ENST00000417189.1_Missense_Mutation_p.S261T|NRP2_ENST00000360409.3_Missense_Mutation_p.S261T|NRP2_ENST00000540841.1_Missense_Mutation_p.S261T|NRP2_ENST00000412873.2_Missense_Mutation_p.S261T|NRP2_ENST00000357118.4_Missense_Mutation_p.S261T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGATGGCTTCTCTGCGCGTTA	0.567																																																	0								ENSG00000118257						82	73	76					2																	206588625		2203	4300	6503	NRP2	SO:0001583	missense	0			-	HGNC	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.781T>A	2.37:g.206588625T>A	ENSP00000350432:p.Ser261Thr	Somatic	0	95	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	30	0	0	23	30.30	10	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.S261T	ENST00000357785.5	37	c.781	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	T	32	5.125687	0.94429	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.66560	2.04	0.80722	D	1	D;D;P;D;D;D	0.56968	0.973;0.973;0.886;0.973;0.973;0.978	D;D;D;D;D;D	0.85130	0.996;0.997;0.982;0.997;0.996;0.997	T	0.19778	-1.0295	10	0.59425	D	0.04	-17.4185	16.4504	0.83984	0.0:0.0:0.0:1.0	.	261;261;261;261;261;261	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	T	261	ENSP00000353582:S261T;ENSP00000439658:S261T;ENSP00000439261:S261T;ENSP00000347238:S261T;ENSP00000387519:S261T;ENSP00000349632:S261T;ENSP00000350432:S261T;ENSP00000407626:S261T;ENSP00000272849:S261T	ENSP00000272849:S261T	S	+	1	0	NRP2	206296870	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TCT	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.567	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	protein_coding	OTTHUMT00000336467.1	T		-		206588625	1	no_errors	ENST00000360409	ensembl	human	known	74_37	missense	SNP	1.000	A	A	206588625	T	A	206588625	3	1	26	1	0	0	0	0	1	0	0	0	10663	1551	54	5	799	5	NRP2	2	206588625	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	31768911	206588625	36610748	29	1834	23	2									
NRP2	8828	genome.wustl.edu	37	chr2	206588626	206588626	+	Missense_Mutation	SNP	C	C	T													ggtggccaaggatggcttctCtgcgcgttactacctggtcc							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:206588626C>T	ENST00000357785.5	+	5	813	c.782C>T	c.(781-783)tCt>tTt	p.S261F	NRP2_ENST00000355117.4_Missense_Mutation_p.S261F|NRP2_ENST00000272849.3_Missense_Mutation_p.S261F|NRP2_ENST00000540178.1_Missense_Mutation_p.S261F|NRP2_ENST00000417189.1_Missense_Mutation_p.S261F|NRP2_ENST00000360409.3_Missense_Mutation_p.S261F|NRP2_ENST00000540841.1_Missense_Mutation_p.S261F|NRP2_ENST00000412873.2_Missense_Mutation_p.S261F|NRP2_ENST00000357118.4_Missense_Mutation_p.S261F			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GATGGCTTCTCTGCGCGTTAC	0.567																																																	0								ENSG00000118257						83	74	77					2																	206588626		2203	4300	6503	NRP2	SO:0001583	missense	0			-	HGNC	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.782C>T	2.37:g.206588626C>T	ENSP00000350432:p.Ser261Phe	Somatic	0	95	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	29	0	0	23	30.30	10	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.S261F	ENST00000357785.5	37	c.782	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489062	0.84962	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.63843	1.955	0.80722	D	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.22243	-1.0222	10	0.54805	T	0.06	-17.4185	20.428	0.99075	0.0:1.0:0.0:0.0	.	261;261;261;261;261;261	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	F	261	ENSP00000353582:S261F;ENSP00000439658:S261F;ENSP00000439261:S261F;ENSP00000347238:S261F;ENSP00000387519:S261F;ENSP00000349632:S261F;ENSP00000350432:S261F;ENSP00000407626:S261F;ENSP00000272849:S261F	ENSP00000272849:S261F	S	+	2	0	NRP2	206296871	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCT	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.567	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	protein_coding	OTTHUMT00000336467.1	C		-		206588626	1	no_errors	ENST00000360409	ensembl	human	known	74_37	missense	SNP	1.000	T	T	206588626	C	T	206588626	3	4	26	1	0	0	0	0	1	0	0	0	10663	913	32	2	800	2	NRP2	2	206588626	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	1	206588626	36610747	30	1835	23	2									
CCR3	1232	genome.wustl.edu	37	chr3	46307606	46307606	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgccacttcttccacaggcaCttgctcatgcacctgggcag	9	16	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:46307606C>G	ENST00000357422.2	+	4	1500	c.957C>G	c.(955-957)caC>caG	p.H319Q	CCR3_ENST00000545097.1_Missense_Mutation_p.H340Q|CCR3_ENST00000541018.1_Missense_Mutation_p.H319Q|CCR3_ENST00000395940.2_Missense_Mutation_p.H319Q|CCR3_ENST00000395942.2_Missense_Mutation_p.H319Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	319					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCCACAGGCACTTGCTCATGC	0.547																																																	0								ENSG00000183625						97	83	88					3																	46307606		2203	4300	6503	CCR3	SO:0001583	missense	0			-	HGNC	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.957C>G	3.37:g.46307606C>G	ENSP00000350003:p.His319Gln	Somatic	0	35	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	24	0	0	26	31.58	12	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.H340Q	ENST00000357422.2	37	c.1020	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400998	0.11696	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.26	-7.65	0.01281	.	3.503140	0.01015	N	0.003888	T	0.37732	0.1014	M	0.64404	1.975	0.09310	N	1	B;B	0.24186	0.099;0.022	B;B	0.28011	0.085;0.039	T	0.42515	-0.9447	10	0.52906	T	0.07	.	12.7046	0.57054	0.0:0.2503:0.0838:0.6659	.	340;319	F5GWL6;P51677	.;CCR3_HUMAN	Q	319;340;319;319;319	ENSP00000350003:H319Q;ENSP00000441600:H340Q;ENSP00000440097:H319Q;ENSP00000379271:H319Q;ENSP00000379273:H319Q	ENSP00000350003:H319Q	H	+	3	2	CCR3	46282610	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.886000	0.00712	-1.644000	0.01517	-0.215000	0.12644	CAC	-	prints_Chemokine_CCR1		0.547	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	protein_coding	OTTHUMT00000257380.2	C		-		46307606	1	no_errors	ENST00000545097	ensembl	human	known	74_37	missense	SNP	0.001	G	G	46307606	C	G	46307606	3	3	26	1	0	0	0	0	1	0	0	0	2944	564	20	4	1026	4	CCR3	3	46307606	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		46307606	151714824	31	1836											
FRMD4B	23150	genome.wustl.edu	37	chr3	69351552	69351552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaatcgtggtcaagaaCtcggtgatctaactgcagcc	12	10	2	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:69351552C>T	ENST00000398540.3	-	4	441	c.358G>A	c.(358-360)Gtt>Att	p.V120I	FRMD4B_ENST00000542259.1_Missense_Mutation_p.V66I	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	120	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGTCAAGAACTCGGTGATCT	0.448																																																	0								ENSG00000114541						110	110	110					3																	69351552		1929	4123	6052	FRMD4B	SO:0001583	missense	0			-	HGNC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.358G>A	3.37:g.69351552C>T	ENSP00000381549:p.Val120Ile	Somatic	0	95	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	32	52.24	Q8TAI3	Missense_Mutation	SNP	32	0	0	18	57.14	24	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.V120I	ENST00000398540.3	37	c.358	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397208	0.62177	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000473029;ENST00000460709;ENST00000459638	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.65	5.65	0.86999	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	L	0.41492	1.28	0.58432	D	0.999999	D;P	0.69078	0.997;0.956	D;D	0.74023	0.982;0.944	T	0.82874	-0.0241	10	0.72032	D	0.01	-15.5962	18.8761	0.92337	0.0:1.0:0.0:0.0	.	225;120	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	I	120;66;66;66;66	ENSP00000381549:V120I;ENSP00000437658:V66I;ENSP00000418373:V66I;ENSP00000418023:V66I;ENSP00000417550:V66I	ENSP00000381549:V120I	V	-	1	0	FRMD4B	69434242	1.000000	0.71417	0.996000	0.52242	0.036000	0.12997	6.995000	0.76257	2.827000	0.97445	0.650000	0.86243	GTT	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.448	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	protein_coding	OTTHUMT00000352111.1	C		-		69351552	-1	no_errors	ENST00000398540	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69351552	C	T	69351552	3	4	26	1	0	0	0	0	1	0	0	0	6054	565	20	2	2826	2	FRMD4B	3	69351552	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	23043946	69351552	128670878	32	1837											
C3orf79	152118	genome.wustl.edu	37	chr3	153203844	153203844	+	Missense_Mutation	SNP	A	A	G													aatgccaattttatatgggcAccctgccactcttctaaaag					rs200484423		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:153203844A>G	ENST00000446603.2	+	2	235	c.173A>G	c.(172-174)cAc>cGc	p.H58R	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	58										endometrium(1)|large_intestine(3)	4						ttatatgggcaccctgccact	0.373																																																	0								ENSG00000237787						48	45	46					3																	153203844		1811	4073	5884	C3orf79	SO:0001583	missense	0			-	HGNC	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.173A>G	3.37:g.153203844A>G	ENSP00000389475:p.His58Arg	Somatic	0	34	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	27.50		Missense_Mutation	SNP	36	0	0	20	30.30	10	NULL	p.H58R	ENST00000446603.2	37	c.173	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	A	5.704	0.314492	0.10789	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.12	0.864	0.19068	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.34264	0.446	B	0.33890	0.172	T	0.18429	-1.0337	8	0.87932	D	0	.	4.1674	0.10313	0.6904:0.0:0.0:0.3096	.	58	P0CE67	CC079_HUMAN	R	58	.	ENSP00000389475:H58R	H	+	2	0	C3orf79	154686534	0.004000	0.15560	0.001000	0.08648	0.082000	0.17680	0.073000	0.14640	0.241000	0.21283	0.397000	0.26171	CAC	-	NULL		0.373	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	protein_coding	OTTHUMT00000356570.1	A	NM_001101337	-		153203844	1	no_errors	ENST00000446603	ensembl	human	known	74_37	missense	SNP	0.001	G	G	153203844	A	G	153203844	3	3	26	1	0	0	0	0	1	0	0	0	2248	159	6	5	179	5	C3orf79	3	153203844	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	83852292	153203844	44818586	33	1838	24	2									
C3orf79	152118	genome.wustl.edu	37	chr3	153203846	153203846	+	Missense_Mutation	SNP	C	C	T													tgccaattttatatgggcacCctgccactcttctaaaagac							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:153203846C>T	ENST00000446603.2	+	2	237	c.175C>T	c.(175-177)Cct>Tct	p.P59S	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	59										endometrium(1)|large_intestine(3)	4						atatgggcaccctgccactct	0.368																																																	0								ENSG00000237787						48	45	46					3																	153203846		1812	4074	5886	C3orf79	SO:0001583	missense	0			-	HGNC	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.175C>T	3.37:g.153203846C>T	ENSP00000389475:p.Pro59Ser	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21		Missense_Mutation	SNP	41	0	0	23	32.35	11	NULL	p.P59S	ENST00000446603.2	37	c.175	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947223	0.18356	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.38	-1.43	0.08884	.	.	.	.	.	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.26202	0.067	T	0.27365	-1.0076	8	0.87932	D	0	.	7.9249	0.29867	0.3487:0.6513:0.0:0.0	.	59	P0CE67	CC079_HUMAN	S	59	.	ENSP00000389475:P59S	P	+	1	0	C3orf79	154686536	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.455000	0.21843	-0.288000	0.09051	-0.516000	0.04426	CCT	-	NULL		0.368	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	protein_coding	OTTHUMT00000356570.1	C	NM_001101337	-		153203846	1	no_errors	ENST00000446603	ensembl	human	known	74_37	missense	SNP	0.001	T	T	153203846	C	T	153203846	3	4	26	1	0	0	0	0	1	0	0	0	2248	623	22	2	181	2	C3orf79	3	153203846	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	2	153203846	44818584	34	1839	24	2									
ADAMTS3	9508	genome.wustl.edu	37	chr4	73280608	73280608	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagacaacatgaatcctTcctttttcttcctccatctg	4	12	2	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:73280608T>G	ENST00000286657.4	-	4	621	c.585A>C	c.(583-585)ggA>ggC	p.G195G		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	195					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATGAATCCTTCCTTTTTCTT	0.398																																					NSCLC(168;1941 2048 2918 13048 43078)												0								ENSG00000156140						176	168	171					4																	73280608		2203	4300	6503	ADAMTS3	SO:0001819	synonymous_variant	0			-	HGNC	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.585A>C	4.37:g.73280608T>G		Somatic	0	91	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	80	15.79	A1L3U9|Q9BXZ8	Silent	SNP	35	0	0	48	17.24	10	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.G195	ENST00000286657.4	37	c.585	CCDS3553.1	4																																																																																			-	pfam_Peptidase_M12B_N		0.398	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	T		-		73280608	-1	no_errors	ENST00000286657	ensembl	human	known	74_37	silent	SNP	1.000	G	G	73280608	T	G	73280608	2	3	26	1	0	0	0	0	0	0	0	1	267	1770	62	5		5	ADAMTS3	4	73280608	Silent	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09		73280608	117873668	35	1840											
FRAS1	80144	genome.wustl.edu	37	chr4	79350248	79350248	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcatttatcctttttaGtttcagatggagaacacaca	8	7	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:79350248G>C	ENST00000325942.6	+	36	5151		c.e36-1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						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						ATCCTTTTTAGTTTCAGATGG	0.493																																																	0								ENSG00000138759						47	48	48					4																	79350248		2037	4145	6182	FRAS1	SO:0001630	splice_region_variant	0			-	HGNC	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.4712-1G>C	4.37:g.79350248G>C		Somatic	0	43	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	28	0	0	35	16.67	7	-	e36-1	ENST00000325942.6	37	c.4712-1	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896561	0.33442	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000510944	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79569272	1.000000	0.71417	0.996000	0.52242	0.009000	0.06853	9.101000	0.94219	2.687000	0.91594	0.563000	0.77884	.	-	-		0.493	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	G		-	Intron	79350248	1	no_errors	ENST00000264895	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	79350248	G	C	79350248	5	2	26	1	0	0	0	0	0	0	1	0	6044	1043	36	4	4853	4	FRAS1	4	79350248	Splice_Site	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	6069640	79350248	111804028	36	1841											
MTTP	4547	genome.wustl.edu	37	chr4	100521752	100521752	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgctgtcacctctgcTcagacctcagactcattaga	9	12	5	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:100521752T>G	ENST00000265517.5	+	9	1301	c.1098T>G	c.(1096-1098)gcT>gcG	p.A366A	MTTP_ENST00000511045.1_Silent_p.A393A|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Silent_p.A366A			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	366	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCACCTCTGCTCAGACCTCAG	0.408																																																	0								ENSG00000138823						142	141	141					4																	100521752		2203	4300	6503	MTTP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1098T>G	4.37:g.100521752T>G		Somatic	0	64	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	59	24.36	A8K428|Q08AM4|Q6P5T3	Silent	SNP	33	0	0	39	11.36	5	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A366	ENST00000265517.5	37	c.1098	CCDS3651.1	4																																																																																			-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	T		-		100521752	1	no_errors	ENST00000265517	ensembl	human	known	74_37	silent	SNP	0.999	G	G	100521752	T	G	100521752	2	3	26	1	0	0	0	0	0	0	0	1	9966	1538	54	5		5	MTTP	4	100521752	Silent	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	21171504	100521752	90632524	37	1842											
TDO2	6999	genome.wustl.edu	37	chr4	156835543	156835543	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaaaagaggtgctactGtccttatttgatgagaaacg	10	6	0	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:156835543G>C	ENST00000536354.2	+	8	859	c.795G>C	c.(793-795)ctG>ctC	p.L265L		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AGGTGCTACTGTCCTTATTTG	0.363																																					Colon(57;928 1036 2595 6946 26094)												0								ENSG00000151790						117	120	119					4																	156835543		2203	4300	6503	TDO2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.795G>C	4.37:g.156835543G>C		Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	24	42.86		Silent	SNP	38	0	0	35	38.60	22	pfam_Trp_2_3_dOase	p.L265	ENST00000536354.2	37	c.795	CCDS34086.1	4																																																																																			-	pfam_Trp_2_3_dOase		0.363	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	protein_coding	OTTHUMT00000366209.3	G	NM_005651	-		156835543	1	no_errors	ENST00000536354	ensembl	human	known	74_37	silent	SNP	0.428	C	C	156835543	G	C	156835543	2	2	26	1	0	0	0	0	0	0	0	1	15734	1364	48	4		4	TDO2	4	156835543	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	56313791	156835543	34318733	38	1843											
FSTL5	56884	genome.wustl.edu	37	chr4	162307283	162307283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctcctctgatggtaatGtactgaacccttacaagacc	6	11	2	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:162307283G>A	ENST00000306100.5	-	16	2596	c.2160C>T	c.(2158-2160)taC>taT	p.Y720Y	FSTL5_ENST00000379164.4_Silent_p.Y719Y|FSTL5_ENST00000427802.2_Silent_p.Y710Y|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.Y719Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	720						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGATGGTAATGTACTGAACCC	0.423																																																	0								ENSG00000168843						101	94	97					4																	162307283		2203	4300	6503	FSTL5	SO:0001819	synonymous_variant	0			-	HGNC	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2160C>T	4.37:g.162307283G>A		Somatic	0	38	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	37	0	0	26	52.73	29	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.Y720	ENST00000306100.5	37	c.2160	CCDS3802.1	4																																																																																			-	NULL		0.423	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	protein_coding	OTTHUMT00000364773.2	G	NM_020116	-		162307283	-1	no_errors	ENST00000306100	ensembl	human	known	74_37	silent	SNP	0.962	A	A	162307283	G	A	162307283	2	1	26	1	0	0	0	0	0	0	0	1	6082	1372	48	2		2	FSTL5	4	162307283	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	5471740	162307283	28846993	39	1844											
ANXA10	11199	genome.wustl.edu	37	chr4	169083688	169083688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccacaggacctgattGgggatatgagggagcagctt	13	9	0	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:169083688G>T	ENST00000359299.3	+	4	391	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	69						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GGACCTGATTGGGGATATGAG	0.398																																																	0								ENSG00000109511						76	69	71					4																	169083688		2203	4300	6503	ANXA10	SO:0001583	missense	0			-	HGNC	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.205G>T	4.37:g.169083688G>T	ENSP00000352248:p.Gly69Trp	Somatic	0	60	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	54	18.18	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	38	0	0	48	17.24	10	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.G69W	ENST00000359299.3	37	c.205	CCDS34096.1	4	.	.	.	.	.	.	.	.	.	.	G	9.179	1.022995	0.19433	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03330	3.97	5.2	-0.989	0.10242	.	0.925190	0.09187	N	0.836644	T	0.04182	0.0116	L	0.52573	1.65	0.09310	N	0.999992	B	0.09022	0.002	B	0.10450	0.005	T	0.42464	-0.9450	10	0.87932	D	0	.	4.2427	0.10656	0.3511:0.0:0.4062:0.2427	.	69	Q9UJ72	ANX10_HUMAN	W	69	ENSP00000352248:G69W	ENSP00000352248:G69W	G	+	1	0	ANXA10	169320263	0.000000	0.05858	0.262000	0.24481	0.587000	0.36485	0.149000	0.16243	-0.213000	0.10094	0.585000	0.79938	GGG	-	pfam_Annexin_repeat,smart_Annexin_repeat		0.398	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	protein_coding	OTTHUMT00000364348.2	G	NM_007193	-		169083688	1	no_errors	ENST00000359299	ensembl	human	known	74_37	missense	SNP	0.104	T	T	169083688	G	T	169083688	3	4	26	1	0	0	0	0	1	0	0	0	715	1348	47	3	219	3	ANXA10	4	169083688	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	6776405	169083688	22070588	40	1845											
SDHA	6389	genome.wustl.edu	37	chr5	251510	251510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagaacctgatgctgtGtgcgctgcagaccatctacg	12	12	1	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:251510G>C	ENST00000264932.6	+	13	1836	c.1721G>C	c.(1720-1722)tGt>tCt	p.C574S	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.C526S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	574					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGATGCTGTGTGCGCTGCAG	0.622									Familial Paragangliomas																																								0								ENSG00000073578						33	42	39					5																	251510		2203	4300	6503	SDHA	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	-	HGNC	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1721G>C	5.37:g.251510G>C	ENSP00000264932:p.Cys574Ser	Somatic	0	65	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	88	39.31	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	29	0	0	45	46.43	39	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.C574S	ENST00000264932.6	37	c.1721	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	N	3.239	-0.155773	0.06544	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	T;T;T	0.80393	-1.37;-1.37;-1.37	3.69	3.69	0.42338	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.128767	0.52532	U	0.000074	T	0.79233	0.4411	M	0.81497	2.545	0.41341	D	0.987307	B;B;B;B	0.30068	0.057;0.093;0.267;0.06	B;B;B;B	0.32533	0.026;0.066;0.147;0.028	T	0.75042	-0.3457	10	0.11182	T	0.66	.	13.2821	0.60222	0.0:0.0:1.0:0.0	.	526;574;168;574	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	S	574;429;526;20	ENSP00000264932:C574S;ENSP00000427703:C526S;ENSP00000421911:C20S	ENSP00000264932:C574S	C	+	2	0	SDHA	304510	1.000000	0.71417	0.222000	0.23844	0.948000	0.59901	6.317000	0.72862	1.794000	0.52575	0.305000	0.20034	TGT	-	pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.622	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	protein_coding	OTTHUMT00000206599.1	G	NM_004168	-		251510	1	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	SNP	0.992	C	C	251510	G	C	251510	3	2	26	1	0	0	0	0	1	0	0	0	13971	1377	48	4	1771	4	SDHA	5	251510	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		251510	180663750	41	1846											
MARCH6	10299	genome.wustl.edu	37	chr5	10403604	10403604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttctgcattggctagtggGaatggtatatgtcttctact	11	6	3	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:10403604G>A	ENST00000274140.5	+	15	1415	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	MARCH6_ENST00000503788.1_Missense_Mutation_p.G323E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G380E|MARCH6_ENST00000510792.1_Missense_Mutation_p.G126E	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	428					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGCTAGTGGGAATGGTATAT	0.423																																																	0								ENSG00000145495						170	150	157					5																	10403604		2203	4300	6503	MARCH6	SO:0001583	missense	0			-	HGNC	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1283G>A	5.37:g.10403604G>A	ENSP00000274140:p.Gly428Glu	Somatic	0	45	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	106	22.63	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	26	0	0	101	19.69	25	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.G428E	ENST00000274140.5	37	c.1283	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.205092	0.95033	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	H	0.94264	3.515	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;0.999;1.0;0.999	T	0.82900	-0.0228	10	0.87932	D	0	-19.1574	19.4918	0.95052	0.0:0.0:1.0:0.0	.	323;380;8;428	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	E	380;323;428;126	ENSP00000414643:G380E;ENSP00000425930:G323E;ENSP00000274140:G428E;ENSP00000424512:G126E	ENSP00000274140:G428E	G	+	2	0	MARCH6	10456604	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	9.505000	0.97989	2.616000	0.88540	0.557000	0.71058	GGA	-	NULL		0.423	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	protein_coding	OTTHUMT00000366919.2	G	NM_005885	-		10403604	1	no_errors	ENST00000274140	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10403604	G	A	10403604	3	1	26	1	0	0	0	0	1	0	0	0	9307	1174	41	2	1341	2	MARCH6	5	10403604	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	10152094	10403604	170511656	42	1847											
GAPT	202309	genome.wustl.edu	37	chr5	57790369	57790369	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtttgtacagaaatgtcGaaaagctgtggaaataattt	9	4	0	1	rs201851075		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:57790369G>A	ENST00000396776.2	+	3	468	c.6G>A	c.(4-6)tcG>tcA	p.S2S	GAPT_ENST00000318469.2_Silent_p.S2S	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	2					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAGAAATGTCGAAAAGCTGTG	0.368													G|||	1	0.000199681	0	0	5008	,	,		18963	0.001		0	False		,,,				2504	0																0								ENSG00000175857						83	84	83					5																	57790369		2203	4300	6503	GAPT	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"GRB2-binding transmembrane adaptor"		"chromosome 5 open reading frame 29"	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.6G>A	5.37:g.57790369G>A		Somatic	0	79	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	56	35.63		Silent	SNP	46	0	0	43	27.12	16	pfam_Protein_GAPT	p.S2	ENST00000396776.2	37	c.6	CCDS3975.1	5																																																																																			-	pfam_Protein_GAPT		0.368	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPT	protein_coding	OTTHUMT00000253963.1	G	NM_152687	rs201851075		57790369	1	no_errors	ENST00000318469	ensembl	human	known	74_37	silent	SNP	0.006	A	A	57790369	G	A	57790369	2	1	26	1	0	0	0	0	0	0	0	1	6240	1045	37	1		1	GAPT	5	57790369	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	47386765	57790369	123124891	43	1848											
OTP	23440	genome.wustl.edu	37	chr5	76932914	76932914	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtggtgatgtcctccCcgggcagcagagtggctccc	13	15	0	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:76932914C>G	ENST00000306422.3	-	2	1317	c.179G>C	c.(178-180)gGg>gCg	p.G60A	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	60					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GATGTCCTCCCCGGGCAGCAG	0.726																																																	0								ENSG00000171540						16	20	18					5																	76932914		2199	4294	6493	OTP	SO:0001583	missense	0			-	HGNC		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.179G>C	5.37:g.76932914C>G	ENSP00000302814:p.Gly60Ala	Somatic	0	88	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	61	23.75		Missense_Mutation	SNP	24	0	0	16	30.43	7	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom	p.G60A	ENST00000306422.3	37	c.179	CCDS4039.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.690083	0.88735	.	.	ENSG00000171540	ENST00000306422	D	0.91945	-2.94	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	L	0.27053	0.805	0.58432	D	0.999999	D	0.61080	0.989	P	0.60473	0.875	D	0.93444	0.6796	10	0.66056	D	0.02	.	18.7086	0.91648	0.0:1.0:0.0:0.0	.	60	Q5XKR4	OTP_HUMAN	A	60	ENSP00000302814:G60A	ENSP00000302814:G60A	G	-	2	0	OTP	76968670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.189000	0.77747	2.732000	0.93576	0.655000	0.94253	GGG	-	NULL		0.726	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTP	protein_coding	OTTHUMT00000220016.2	C		-		76932914	-1	no_errors	ENST00000306422	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76932914	C	G	76932914	3	3	26	1	0	0	0	0	1	0	0	0	11312	623	22	4	806	4	OTP	5	76932914	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	19142545	76932914	103982346	44	1849											
MAN2A1	4124	genome.wustl.edu	37	chr5	109110495	109110495	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttttttttgtagggctcgGatgctactagatcagtaccg	11	7	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:109110495G>T	ENST00000261483.4	+	8	2255	c.1203G>T	c.(1201-1203)cgG>cgT	p.R401R		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	401					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTAGGGCTCGGATGCTACTAG	0.358																																																	0								ENSG00000112893						61	60	60					5																	109110495		2202	4300	6502	MAN2A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1203G>T	5.37:g.109110495G>T		Somatic	0	51	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q16767	Silent	SNP	33	0	0	40	0.00	0	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R401	ENST00000261483.4	37	c.1203	CCDS34209.1	5																																																																																			-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl		0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	protein_coding	OTTHUMT00000370680.1	G		-		109110495	1	no_errors	ENST00000261483	ensembl	human	known	74_37	silent	SNP	0.008	T	T	109110495	G	T	109110495	2	4	26	1	0	0	0	0	0	0	0	1	9216	1161	41	3		3	MAN2A1	5	109110495	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	32177581	109110495	71804765	45	1850											
TRPC7	57113	genome.wustl.edu	37	chr5	135692859	135692859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccatgtagtccacacAgttgaagttaagggtcttgg	11	10	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:135692859A>T	ENST00000513104.1	-	2	499	c.217T>A	c.(217-219)Tgt>Agt	p.C73S	TRPC7_ENST00000355180.3_Missense_Mutation_p.C73S|TRPC7_ENST00000426057.2_Missense_Mutation_p.C73S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	73					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGTCCACACAGTTGAAGTTA	0.597																																																	0								ENSG00000069018						88	99	96					5																	135692859		2194	4296	6490	TRPC7	SO:0001583	missense	0			-	HGNC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.217T>A	5.37:g.135692859A>T	ENSP00000426070:p.Cys73Ser	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	29	0	0	30	14.29	5	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.C73S	ENST00000513104.1	37	c.217	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.308281|4.308281	0.81247|0.81247	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.69685|.	-0.42;-0.42;-0.42|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60495|0.60495	0.2273|0.2273	L|L	0.42632|0.42632	1.34|1.34	0.43263|0.43263	D|D	0.995206|0.995206	D;D;D;P|.	0.64830|.	0.968;0.987;0.994;0.874|.	D;P;D;P|.	0.69824|.	0.966;0.73;0.964;0.824|.	T|T	0.57768|0.57768	-0.7754|-0.7754	10|5	0.59425|.	D|.	0.04|.	-17.8693|-17.8693	14.9085|14.9085	0.70737|0.70737	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	73;73;73;73|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	S|Q	73|72	ENSP00000347312:C73S;ENSP00000441628:C73S;ENSP00000426070:C73S|.	ENSP00000265193:C73S|.	C|L	-|-	1|2	0|0	TRPC7|TRPC7	135720758|135720758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.002000|6.002000	0.70693|0.70693	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	TGT|CTG	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	A	NM_020389	-		135692859	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135692859	A	T	135692859	3	4	26	1	0	0	0	0	1	0	0	0	16591	188	7	5	2415	5	TRPC7	5	135692859	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	26582364	135692859	45222401	46	1851											
PCDHA1	56147	genome.wustl.edu	37	chr5	140166038	140166038	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgctcaggacctgggactgGagctggcggagctggtgcct	17	10	1	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:140166038G>T	ENST00000504120.2	+	1	163	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PCDHA1_ENST00000394633.3_Nonsense_Mutation_p.E55*|PCDHA1_ENST00000378133.3_Nonsense_Mutation_p.E55*	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	55	Cadherin 1. {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)|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)			CCTGGGACTGGAGCTGGCGGA	0.607																																																	0								ENSG00000204970						55	61	59					5																	140166038		2203	4300	6503	PCDHA1	SO:0001587	stop_gained	0			-	HGNC	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.163G>T	5.37:g.140166038G>T	ENSP00000420840:p.Glu55*	Somatic	0	66	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	72	24.21	O75288|Q9NRT7	Nonsense_Mutation	SNP	32	0	0	34	10.53	4	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E55*	ENST00000504120.2	37	c.163	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173107	0.78452	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	.	.	.	4.46	3.57	0.40892	.	0.000000	0.43416	U	0.000565	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1243	0.59344	0.0:0.3082:0.6918:0.0	.	.	.	.	X	55	.	ENSP00000367373:E55X	E	+	1	0	PCDHA1	140146222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.182000	0.50910	0.973000	0.38340	0.603000	0.83216	GAG	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	G	NM_018900	-		140166038	1	no_errors	ENST00000504120	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	140166038	G	T	140166038	4	4	26	1	0	0	0	0	0	1	0	0	11521	1175	41	3	165	3	PCDHA1	5	140166038	Nonsense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	4473179	140166038	40749222	47	1852											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530374	140530374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaccctcacttccacgTtctcacccgcaatcgcagcg	5	20	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:140530374T>C	ENST00000231136.1	+	1	536	c.536T>C	c.(535-537)gTt>gCt	p.V179A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V43A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	179	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)			CACTTCCACGTTCTCACCCGC	0.547																																																	0								ENSG00000113211						140	148	145					5																	140530374		2203	4300	6503	PCDHB6	SO:0001583	missense	0			-	HGNC	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.536T>C	5.37:g.140530374T>C	ENSP00000231136:p.Val179Ala	Somatic	0	35	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	B2R8R9	Missense_Mutation	SNP	40	0	0	28	15.15	5	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V179A	ENST00000231136.1	37	c.536	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439985	0.63067	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.59772	0.24;0.24	4.7	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75012	0.3792	M	0.91663	3.23	0.09310	N	1	P	0.49862	0.929	P	0.53760	0.734	T	0.70153	-0.4950	9	0.87932	D	0	.	11.7011	0.51571	0.0:0.0:0.1475:0.8525	.	179	Q9Y5E3	PCDB6_HUMAN	A	43;179	ENSP00000438466:V43A;ENSP00000231136:V179A	ENSP00000231136:V179A	V	+	2	0	PCDHB6	140510558	0.080000	0.21391	0.990000	0.47175	0.950000	0.60333	2.428000	0.44749	1.877000	0.54381	0.459000	0.35465	GTT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	T	NM_018939	-		140530374	1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	SNP	0.006	C	C	140530374	T	C	140530374	3	2	26	1	0	0	0	0	1	0	0	0	11548	1725	60	5	538	5	PCDHB6	5	140530374	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	364336	140530374	40384886	48	1853											
SLIT3	6586	genome.wustl.edu	37	chr5	168123305	168123305	+	Missense_Mutation	SNP	T	T	A													tgagatccttacctgtgtagTtaggcggacagatacacacg							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:168123305T>A	ENST00000519560.1	-	28	3493	c.3074A>T	c.(3073-3075)aAc>aTc	p.N1025I	SLIT3_ENST00000404867.3_Missense_Mutation_p.N1025I|SLIT3_ENST00000332966.8_Missense_Mutation_p.N1032I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1025	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGTGTAGTTAGGCGGACA	0.502																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						274	233	247					5																	168123305		2203	4300	6503	SLIT3	SO:0001583	missense	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3074A>T	5.37:g.168123305T>A	ENSP00000430333:p.Asn1025Ile	Somatic	0	74	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	76	15.56	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	36	0	0	40	18.37	9	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1025I	ENST00000519560.1	37	c.3074	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232271	0.39498	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.92446	-3.04;-3.04;-3.04	5.22	5.22	0.72569	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	L	0.42581	1.335	0.80722	D	1	B	0.33299	0.407	B	0.39299	0.296	D	0.88577	0.3134	10	0.34782	T	0.22	.	15.1243	0.72469	0.0:0.0:0.0:1.0	.	1025	O75094	SLIT3_HUMAN	I	1025;1032;1025	ENSP00000430333:N1025I;ENSP00000332164:N1032I;ENSP00000384890:N1025I	ENSP00000332164:N1032I	N	-	2	0	SLIT3	168055883	1.000000	0.71417	0.971000	0.41717	0.236000	0.25371	7.796000	0.85898	1.974000	0.57490	0.533000	0.62120	AAC	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	T	NM_003062	-		168123305	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	SNP	1.000	A	A	168123305	T	A	168123305	3	1	26	1	0	0	0	0	1	0	0	0	14749	1725	60	5	1533	5	SLIT3	5	168123305	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	27592931	168123305	12791955	49	1854	25	2									
SLIT3	6586	genome.wustl.edu	37	chr5	168123307	168123307	+	Silent	SNP	A	A	T													agatccttacctgtgtagttAggcggacagatacacacgta							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:168123307A>T	ENST00000519560.1	-	28	3491	c.3072T>A	c.(3070-3072)ccT>ccA	p.P1024P	SLIT3_ENST00000404867.3_Silent_p.P1024P|SLIT3_ENST00000332966.8_Silent_p.P1031P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1024	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGTGTAGTTAGGCGGACAGA	0.502																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						274	233	247					5																	168123307		2203	4300	6503	SLIT3	SO:0001819	synonymous_variant	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3072T>A	5.37:g.168123307A>T		Somatic	0	74	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	77	15.38	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	35	0	0	40	16.67	8	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1024	ENST00000519560.1	37	c.3072	CCDS4369.1	5																																																																																			-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	A	NM_003062	-		168123307	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	SNP	0.002	T	T	168123307	A	T	168123307	2	4	26	1	0	0	0	0	0	0	0	1	14749	407	15	5		5	SLIT3	5	168123307	Silent	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	2	168123307	12791953	50	1855	25	2									
SCAND3	114821	genome.wustl.edu	37	chr6	28541205	28541205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctactttatatgaagcccGcaaagcactaatgtttatat	6	8	0	1	rs199908707		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:28541205G>A	ENST00000452236.2	-	4	3078	c.2461C>T	c.(2461-2463)Cgg>Tgg	p.R821W	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						tatgaagcccgcaaagcacta	0.383													G|||	1	0.000199681	0	0	5008	,	,		19328	0		0.001	False		,,,				2504	0																0								ENSG00000232040						119	114	116					6																	28541205		2203	4300	6503	SCAND3	SO:0001583	missense	0			GMAF=0.0005	HGNC																												ENST00000452236.2:c.2461C>T	6.37:g.28541205G>A	ENSP00000395259:p.Arg821Trp	Somatic	0	53	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	62	16.22		Missense_Mutation	SNP	42	0	0	52	23.53	16	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.R821W	ENST00000452236.2	37	c.2461	CCDS34355.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.04	2.417131	0.42918	.	.	ENSG00000232040	ENST00000452236	T	0.01548	4.78	2.27	-0.78	0.10969	.	0.100108	0.32190	U	0.006453	T	0.01592	0.0051	L	0.46157	1.445	0.27051	N	0.963778	D	0.76494	0.999	D	0.71414	0.973	T	0.47433	-0.9118	10	0.87932	D	0	.	3.0292	0.06101	0.1523:0.0:0.3758:0.4719	.	821	Q6R2W3	SCND3_HUMAN	W	821	ENSP00000395259:R821W	ENSP00000395259:R821W	R	-	1	2	SCAND3	28649184	0.962000	0.33011	0.979000	0.43373	0.987000	0.75469	-0.104000	0.10923	-0.229000	0.09854	0.655000	0.94253	CGG	-	NULL		0.383	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	G		rs199908707		28541205	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	0.984	A	A	28541205	G	A	28541205	3	1	26	1	0	0	0	0	1	0	0	0	13884	1086	38	1	1520	1	SCAND3	6	28541205	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		28541205	142573862	51	1856											
WDR46	9277	genome.wustl.edu	37	chr6	33248252	33248252	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgctgcttccggcTtctgtatggattactctcca	9	14	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:33248252T>G	ENST00000374617.4	-	12	1833	c.1477A>C	c.(1477-1479)Agc>Cgc	p.S493R	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	493							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGCTTCCGGCTTCTGTATGGA	0.607																																																	0								ENSG00000227057						28	26	27					6																	33248252		2202	4300	6502	WDR46	SO:0001583	missense	0			-	HGNC	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1477A>C	6.37:g.33248252T>G	ENSP00000363746:p.Ser493Arg	Somatic	0	92	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.10	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	29	0	0	32	11.11	4	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S493R	ENST00000374617.4	37	c.1477	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355709	0.82243	.	.	ENSG00000227057	ENST00000374617	T	0.21543	2.0	5.91	5.91	0.95273	BING4, C-terminal (1);	0.038063	0.85682	D	0.000000	T	0.39253	0.1071	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.77004	0.96;0.989	T	0.36187	-0.9758	10	0.66056	D	0.02	-23.637	14.3013	0.66355	0.0:0.0:0.0:1.0	.	439;493	B4DP15;O15213	.;WDR46_HUMAN	R	493	ENSP00000363746:S493R	ENSP00000363746:S493R	S	-	1	0	WDR46	33356230	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.288000	0.78691	2.264000	0.75181	0.448000	0.29417	AGC	-	pfam_BING4_C_dom		0.607	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	protein_coding	OTTHUMT00000076382.2	T	NM_005452	-		33248252	-1	no_errors	ENST00000374617	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33248252	T	G	33248252	3	3	26	1	0	0	0	0	1	0	0	0	17306	1609	56	5	371	5	WDR46	6	33248252	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	4707047	33248252	137866815	52	1857											
TDRD6	221400	genome.wustl.edu	37	chr6	46656482	46656482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgacagcctcttccGttcgctgctggagcgctatc	12	15	1	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:46656482G>A	ENST00000316081.6	+	1	617	c.617G>A	c.(616-618)cGt>cAt	p.R206H	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R206H|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	206					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCCTCTTCCGTTCGCTGCTG	0.662																																																	0								ENSG00000180113						37	44	42					6																	46656482		2200	4294	6494	TDRD6	SO:0001583	missense	0			-	HGNC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.617G>A	6.37:g.46656482G>A	ENSP00000346065:p.Arg206His	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	22	0	0	23	30.30	10	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R206H	ENST00000316081.6	37	c.617	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763175	0.15914	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15603	2.41;2.41	5.97	4.13	0.48395	.	0.422030	0.28312	N	0.015804	T	0.06645	0.0170	L	0.55743	1.74	0.25471	N	0.98783	B;B	0.30361	0.277;0.182	B;B	0.21708	0.036;0.018	T	0.14783	-1.0460	10	0.44086	T	0.13	-8.6813	11.7457	0.51819	0.1502:0.0:0.8498:0.0	.	206;206	F5H5M3;O60522	.;TDRD6_HUMAN	H	206	ENSP00000443299:R206H;ENSP00000346065:R206H	ENSP00000346065:R206H	R	+	2	0	TDRD6	46764441	0.998000	0.40836	0.990000	0.47175	0.159000	0.22180	2.656000	0.46716	0.802000	0.34089	-0.345000	0.07892	CGT	-	NULL		0.662	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	G	XM_166443	-		46656482	1	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	SNP	0.960	A	A	46656482	G	A	46656482	3	1	26	1	0	0	0	0	1	0	0	0	15741	1145	40	1	619	1	TDRD6	6	46656482	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	13408230	46656482	124458585	53	1858											
CRISP3	10321	genome.wustl.edu	37	chr6	49703228	49703228	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttacatacttgtcattcgaTcctttgggttactgtgtctg	8	8	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:49703228T>A	ENST00000393666.1	-	3	272	c.266A>T	c.(265-267)gAt>gTt	p.D89V	CRISP3_ENST00000371159.4_Missense_Mutation_p.D120V|CRISP3_ENST00000263045.4_Missense_Mutation_p.D102V|CRISP3_ENST00000433368.2_Missense_Mutation_p.D112V|CRISP3_ENST00000423399.2_5'UTR			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	89	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTCATTCGATCCTTTGGGTT	0.333																																																	0								ENSG00000096006						142	133	136					6																	49703228		2203	4300	6503	CRISP3	SO:0001583	missense	0			-	HGNC	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.266A>T	6.37:g.49703228T>A	ENSP00000377274:p.Asp89Val	Somatic	0	87	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	89	9.00	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	41	0	0	60	6.25	4	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.D112V	ENST00000393666.1	37	c.335		6	.	.	.	.	.	.	.	.	.	.	T	8.217	0.801626	0.16397	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	4.49	1.9	0.25705	CAP domain (3);	4.065750	0.01580	U	0.021020	T	0.05593	0.0147	M	0.76433	2.335	0.09310	N	0.999998	P	0.41673	0.759	B	0.42555	0.391	T	0.35251	-0.9796	10	0.29301	T	0.29	.	7.0808	0.25229	0.3637:0.0:0.0:0.6363	.	89	P54108	CRIS3_HUMAN	V	102;112;89;120;112	ENSP00000263045:D102V;ENSP00000389026:D112V;ENSP00000377274:D89V;ENSP00000360201:D120V;ENSP00000346636:D112V	ENSP00000263045:D102V	D	-	2	0	CRISP3	49811187	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.763000	0.04740	0.153000	0.19213	-0.695000	0.03696	GAT	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1		0.333	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	protein_coding		T	NM_006061	-		49703228	-1	no_errors	ENST00000433368	ensembl	human	known	74_37	missense	SNP	0.000	A	A	49703228	T	A	49703228	3	1	26	1	0	0	0	0	1	0	0	0	3883	1435	50	5	491	5	CRISP3	6	49703228	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	3046746	49703228	121411839	54	1859											
IBTK	25998	genome.wustl.edu	37	chr6	82911138	82911138	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttaaaacataaaccttaCcattttccggtaaaactcag	3	10	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:82911138C>T	ENST00000306270.7	-	19	3340		c.e19+1		IBTK_ENST00000510291.1_Splice_Site|IBTK_ENST00000503631.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATAAACCTTACCATTTTCCGG	0.313																																																	0								ENSG00000005700						65	58	60					6																	82911138		2202	4297	6499	IBTK	SO:0001630	splice_region_variant	0			-	HGNC	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2790+1G>A	6.37:g.82911138C>T		Somatic	0	22	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	45	0	0	36	38.98	23	-	e18+1	ENST00000306270.7	37	c.2790+1	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086025	0.76642	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82967857	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	6.977000	0.76141	2.638000	0.89438	0.585000	0.79938	.	-	-		0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	protein_coding	OTTHUMT00000041337.2	C	NM_015525	-	Intron	82911138	-1	no_errors	ENST00000306270	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	82911138	C	T	82911138	5	4	26	1	0	0	0	0	0	0	1	0	7478	521	18	2	1314	2	IBTK	6	82911138	Splice_Site	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	33207910	82911138	88203929	55	1860											
NR2E1	7101	genome.wustl.edu	37	chr6	108499369	108499369	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcggtgtgtgaatcagCtgccagacttctcttcatga	12	9	3	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:108499369C>G	ENST00000368986.4	+	5	1274	c.566C>G	c.(565-567)gCt>gGt	p.A189G	NR2E1_ENST00000368983.3_Missense_Mutation_p.A226G	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	189	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)		TGTGAATCAGCTGCCAGACTT	0.527																																																	0								ENSG00000112333						121	104	109					6																	108499369		2203	4300	6503	NR2E1	SO:0001583	missense	0			-	HGNC	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.566C>G	6.37:g.108499369C>G	ENSP00000357982:p.Ala189Gly	Somatic	0	79	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.75	Q6ZMP8	Missense_Mutation	SNP	35	0	0	22	26.67	8	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.A189G	ENST00000368986.4	37	c.566	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884996	0.91814	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97066	-4.23;-4.23	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98834	1.0752	10	0.72032	D	0.01	.	17.4002	0.87458	0.0:1.0:0.0:0.0	.	189	Q9Y466	NR2E1_HUMAN	G	189;226	ENSP00000357982:A189G;ENSP00000357979:A226G	ENSP00000357979:A226G	A	+	2	0	NR2E1	108606062	1.000000	0.71417	0.885000	0.34714	0.760000	0.43138	7.487000	0.81328	2.642000	0.89623	0.650000	0.86243	GCT	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.527	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	protein_coding	OTTHUMT00000041712.2	C		-		108499369	1	no_errors	ENST00000368986	ensembl	human	known	74_37	missense	SNP	0.997	G	G	108499369	C	G	108499369	3	3	26	1	0	0	0	0	1	0	0	0	10627	797	28	4	584	4	NR2E1	6	108499369	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	25588231	108499369	62615698	56	1861											
KIAA1919	91749	genome.wustl.edu	37	chr6	111587418	111587418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaagcaagagcatctgCtgagacatttcgaagagcaa	10	7	1	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:111587418C>G	ENST00000368847.4	+	4	1006	c.653C>G	c.(652-654)gCt>gGt	p.A218G		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	218					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGAGCATCTGCTGAGACATTT	0.353																																																	0								ENSG00000173214						95	88	90					6																	111587418		2203	4300	6503	KIAA1919	SO:0001583	missense	0			-	HGNC	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.653C>G	6.37:g.111587418C>G	ENSP00000357840:p.Ala218Gly	Somatic	0	73	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	38	0	0	40	24.53	13	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A218G	ENST00000368847.4	37	c.653	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	C	4.801	0.148892	0.09185	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.85	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);	0.349224	0.33591	N	0.004753	T	0.27967	0.0689	L	0.59436	1.845	0.09310	N	1	B	0.15473	0.013	B	0.24848	0.056	T	0.14504	-1.0470	10	0.30078	T	0.28	-16.6107	7.9018	0.29740	0.1305:0.7327:0.0:0.1369	.	218	Q5TF39	NAGT1_HUMAN	G	218	ENSP00000357840:A218G	ENSP00000357840:A218G	A	+	2	0	KIAA1919	111694111	0.000000	0.05858	0.030000	0.17652	0.110000	0.19582	0.019000	0.13444	1.484000	0.48361	-0.163000	0.13421	GCT	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.353	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	protein_coding	OTTHUMT00000041827.1	C	NM_153369	-		111587418	1	no_errors	ENST00000368847	ensembl	human	known	74_37	missense	SNP	0.069	G	G	111587418	C	G	111587418	3	3	26	1	0	0	0	0	1	0	0	0	8264	797	28	4	667	4	KIAA1919	6	111587418	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	3088049	111587418	59527649	57	1862											
TXLNB	167838	genome.wustl.edu	37	chr6	139564104	139564104	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggggttgctctggctccttGagagcggcgtcagcactctc	15	12	3	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:139564104G>C	ENST00000358430.3	-	10	1846	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	538						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGCTCCTTGAGAGCGGCGT	0.562																																																	0								ENSG00000164440						70	77	74					6																	139564104		2203	4300	6503	TXLNB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1614C>G	6.37:g.139564104G>C		Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	31	0	0	36	20.00	9	pfam_Taxilin_fam	p.L538	ENST00000358430.3	37	c.1614	CCDS34545.1	6																																																																																			-	NULL		0.562	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	protein_coding	OTTHUMT00000042458.1	G	NM_153235	-		139564104	-1	no_errors	ENST00000358430	ensembl	human	known	74_37	silent	SNP	0.000	C	C	139564104	G	C	139564104	2	2	26	1	0	0	0	0	0	0	0	1	16795	1277	45	4		4	TXLNB	6	139564104	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	27976686	139564104	31550963	58	1863											
AKAP12	9590	genome.wustl.edu	37	chr6	151672827	151672827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagtagatgctcaggagGcaaaaactgagccttttaca	10	7	1	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:151672827G>T	ENST00000253332.1	+	3	3490	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	AKAP12_ENST00000359755.5_Missense_Mutation_p.A996S|AKAP12_ENST00000402676.2_Missense_Mutation_p.A1101S|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1003S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1101					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)		TGCTCAGGAGGCAAAAACTGA	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)												0								ENSG00000131016						48	48	48					6																	151672827		2203	4300	6503	AKAP12	SO:0001583	missense	0			-	HGNC	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.3301G>T	6.37:g.151672827G>T	ENSP00000253332:p.Ala1101Ser	Somatic	0	22	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	32	0	0	23	56.60	30	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.A1101S	ENST00000253332.1	37	c.3301	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411332	0.25465	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08458	3.09;3.09;3.1;3.1	5.26	0.481	0.16809	.	0.389904	0.18953	N	0.126628	T	0.01222	0.0040	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.13407	0.009;0.009;0.004	T	0.47548	-0.9109	10	0.10111	T	0.7	.	5.3541	0.16051	0.3705:0.1701:0.4594:0.0	.	996;1003;1101	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	S	1101;1101;1003;996	ENSP00000384537:A1101S;ENSP00000253332:A1101S;ENSP00000346702:A1003S;ENSP00000352794:A996S	ENSP00000253332:A1101S	A	+	1	0	AKAP12	151714520	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	-1.126000	0.03254	0.349000	0.23975	-0.391000	0.06502	GCA	-	NULL		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	protein_coding	OTTHUMT00000042712.1	G		-		151672827	1	no_errors	ENST00000253332	ensembl	human	known	74_37	missense	SNP	0.000	T	T	151672827	G	T	151672827	3	4	26	1	0	0	0	0	1	0	0	0	448	1203	42	3	3340	3	AKAP12	6	151672827	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	12108723	151672827	19442240	59	1864											
SYNE1	23345	genome.wustl.edu	37	chr6	152485349	152485349	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccgagttacaggaatcgtaGactattggcttggccagctc	11	10	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:152485349G>C	ENST00000367255.5	-	131	24340	c.23739C>G	c.(23737-23739)gtC>gtG	p.V7913V	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.V7525V|SYNE1_ENST00000265368.4_Silent_p.V7913V|SYNE1_ENST00000423061.1_Silent_p.V7842V|SYNE1_ENST00000448038.1_Silent_p.V7842V|SYNE1_ENST00000539504.1_Silent_p.V68V|SYNE1_ENST00000354674.4_Silent_p.V68V|SYNE1_ENST00000356820.4_Silent_p.V2437V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7913					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)		AGGAATCGTAGACTATTGGCT	0.468										HNSCC(10;0.0054)																																							0								ENSG00000131018						127	116	120					6																	152485349		2203	4300	6503	SYNE1	SO:0001819	synonymous_variant	0			-	HGNC	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.23739C>G	6.37:g.152485349G>C		Somatic	0	66	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	71	22.83	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	39	0	0	55	15.38	10	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V7913	ENST00000367255.5	37	c.23739	CCDS5236.2	6																																																																																			-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152485349	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	SNP	1.000	C	C	152485349	G	C	152485349	2	2	26	1	0	0	0	0	0	0	0	1	15452	929	33	4		4	SYNE1	6	152485349	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	812522	152485349	18629718	60	1865											
SYNE1	23345	genome.wustl.edu	37	chr6	152522994	152522994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcatggagctcttcatGgtgatccgggagagactgcg	14	9	3	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:152522994G>T	ENST00000367255.5	-	127	23711	c.23110C>A	c.(23110-23112)Cat>Aat	p.H7704N	SYNE1_ENST00000341594.5_Missense_Mutation_p.H7316N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H7704N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H7633N|SYNE1_ENST00000448038.1_Missense_Mutation_p.H7633N|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2228N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7704					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)		AGCTCTTCATGGTGATCCGGG	0.463										HNSCC(10;0.0054)																																							0								ENSG00000131018						116	120	119					6																	152522994		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.23110C>A	6.37:g.152522994G>T	ENSP00000356224:p.His7704Asn	Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.22	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	41	0	0	47	0.00	0	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H7704N	ENST00000367255.5	37	c.23110	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674971	0.47781	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.08	6.08	0.98989	.	0.091701	0.47852	D	0.000215	T	0.39384	0.1076	M	0.85197	2.74	0.53005	D	0.999967	P;P;P;P	0.42248	0.528;0.528;0.774;0.665	B;B;B;B	0.40602	0.18;0.18;0.334;0.18	T	0.38972	-0.9636	10	0.34782	T	0.22	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	7704;7704;7633;7633	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	N	7704;350;7633;7704;7633;7316;2228;626	ENSP00000356224:H7704N;ENSP00000356226:H350N;ENSP00000396024:H7633N;ENSP00000265368:H7704N;ENSP00000390975:H7633N;ENSP00000341887:H7316N;ENSP00000349276:H2228N;ENSP00000356220:H626N	ENSP00000265368:H7704N	H	-	1	0	SYNE1	152564687	1.000000	0.71417	0.959000	0.39883	0.331000	0.28603	6.614000	0.74197	2.894000	0.99253	0.591000	0.81541	CAT	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152522994	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152522994	G	T	152522994	3	4	26	1	0	0	0	0	1	0	0	0	15452	1348	47	3	3436	3	SYNE1	6	152522994	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	37645	152522994	18592073	61	1866											
GUSB	2990	genome.wustl.edu	37	chr7	65439619	65439619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtggctggtacggaaagCgttggcaccaagccagcgaa	15	9	0	0	rs377615121		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:65439619C>T	ENST00000304895.4	-	7	1268	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.A234T|GUSB_ENST00000345660.6_Missense_Mutation_p.A329T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.A380T(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTACGGAAAGCGTTGGCACCA	0.592																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000169919	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92	84	87		1138	-3.9	0.5	7		87	0,8600		0,0,4300	no	missense	GUSB	NM_000181.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	380/652	65439619	1,13005	2203	4300	6503	GUSB	SO:0001583	missense	0			-	HGNC	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1138G>A	7.37:g.65439619C>T	ENSP00000302728:p.Ala380Thr	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.06	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	26	0	0	30	26.19	11	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.A380T	ENST00000304895.4	37	c.1138	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926159	0.52759	2.27E-4	0.0	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95821	-3.82;-3.82;-3.82	4.52	-3.92	0.04155	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.339317	0.35970	N	0.002875	D	0.94588	0.8256	L	0.53780	1.695	0.36633	D	0.876401	D;P	0.56287	0.975;0.805	P;B	0.50825	0.651;0.201	D	0.92952	0.6381	10	0.56958	D	0.05	.	19.0272	0.92937	0.8771:0.1229:0.0:0.0	.	234;380	E9PCV0;P08236	.;BGLR_HUMAN	T	380;234;329	ENSP00000302728:A380T;ENSP00000391390:A234T;ENSP00000340734:A329T	ENSP00000302728:A380T	A	-	1	0	GUSB	65077054	0.977000	0.34250	0.491000	0.27477	0.684000	0.39900	1.059000	0.30517	-0.470000	0.06901	-0.397000	0.06425	GCT	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	protein_coding	OTTHUMT00000251637.3	C	NM_000181	-		65439619	-1	no_errors	ENST00000304895	ensembl	human	known	74_37	missense	SNP	0.941	T	T	65439619	C	T	65439619	3	4	26	1	0	0	0	0	1	0	0	0	6904	768	27	1	841	1	GUSB	7	65439619	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		65439619	93699044	62	1867											
PCLO	27445	genome.wustl.edu	37	chr7	82545805	82545805	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttcactgtcagacatgtAatcacgatcctcagctactc	5	14	4	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:82545805A>T	ENST00000333891.9	-	7	11834	c.11497T>A	c.(11497-11499)Tac>Aac	p.Y3833N	PCLO_ENST00000423517.2_Missense_Mutation_p.Y3833N|PCLO_ENST00000437081.1_Missense_Mutation_p.Y553N	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						TCAGACATGTAATCACGATCC	0.473																																																	0								ENSG00000186472						247	232	237					7																	82545805		2017	4163	6180	PCLO	SO:0001583	missense	0			-	HGNC	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.11497T>A	7.37:g.82545805A>T	ENSP00000334319:p.Tyr3833Asn	Somatic	0	62	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	82	16.33		Missense_Mutation	SNP	25	0	0	33	26.67	12	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Y3833N	ENST00000333891.9	37	c.11497	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343769	0.61073	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.57273	0.41;0.43	5.67	5.67	0.87782	.	.	.	.	.	T	0.72890	0.3517	M	0.74647	2.275	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	0.76531	-0.2925	9	0.87932	D	0	.	15.9146	0.79503	1.0:0.0:0.0:0.0	.	3764;3833;3833	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	3833;3833;553	ENSP00000334319:Y3833N;ENSP00000388393:Y3833N	ENSP00000334319:Y3833N	Y	-	1	0	PCLO	82383741	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.339000	0.96797	2.172000	0.68678	0.379000	0.24179	TAC	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	A	NM_014510	-		82545805	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82545805	A	T	82545805	3	4	26	1	0	0	0	0	1	0	0	0	11585	362	13	5	4024	5	PCLO	7	82545805	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	17106186	82545805	76592858	63	1868											
GIGYF1	64599	genome.wustl.edu	37	chr7	100283916	100283916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaagccttcaggcgctcGgcaccgccgcaggtgagagc	13	15	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:100283916G>C	ENST00000275732.5	-	8	2044	c.835C>G	c.(835-837)Cga>Gga	p.R279G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	279					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCAGGCGCTCGGCACCGCCGC	0.617																																																	0								ENSG00000146830						61	68	66					7																	100283916		2203	4300	6503	GIGYF1	SO:0001583	missense	0			-	HGNC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.835C>G	7.37:g.100283916G>C	ENSP00000275732:p.Arg279Gly	Somatic	0	25	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	34	35.85	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	20	0	0	36	35.71	20	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R279G	ENST00000275732.5	37	c.835	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	9.307	1.054528	0.19907	.	.	ENSG00000146830	ENST00000275732	D	0.83250	-1.7	4.8	3.91	0.45181	.	0.267972	0.32357	N	0.006204	T	0.69305	0.3096	L	0.36672	1.1	0.19300	N	0.999979	P	0.43701	0.815	B	0.37833	0.259	T	0.58584	-0.7611	10	0.20046	T	0.44	-8.3726	5.8942	0.18929	0.0947:0.0:0.7131:0.1922	.	279	O75420	PERQ1_HUMAN	G	279	ENSP00000275732:R279G	ENSP00000275732:R279G	R	-	1	2	GIGYF1	100121852	0.156000	0.22821	0.960000	0.40013	0.010000	0.07245	1.921000	0.40035	1.232000	0.43678	0.655000	0.94253	CGA	-	NULL		0.617	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	G	NM_022574	-		100283916	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	SNP	0.206	C	C	100283916	G	C	100283916	3	2	26	1	0	0	0	0	1	0	0	0	6379	1124	39	4	2340	4	GIGYF1	7	100283916	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	17738111	100283916	58854747	64	1869											
PMPCB	9512	genome.wustl.edu	37	chr7	102949431	102949431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacaagatgcctttggcGcaccttgcaatagctgttga	11	9	0	3	rs76757936		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:102949431G>A	ENST00000249269.4	+	8	920	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PMPCB_ENST00000420236.2_Silent_p.A189A|PMPCB_ENST00000428154.1_Silent_p.A294A	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					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						TGCCTTTGGCGCACCTTGCAA	0.428													G|||	1	0.000199681	0	0	5008	,	,		17854	0.001		0	False		,,,				2504	0																0								ENSG00000105819						158	133	142					7																	102949431		2203	4300	6503	PMPCB	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.882G>A	7.37:g.102949431G>A		Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	O60416|Q96FV4	Silent	SNP	37	0	0	28	50.00	28	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A294	ENST00000249269.4	37	c.882	CCDS5730.1	7																																																																																			-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16		0.428	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	protein_coding	OTTHUMT00000347913.1	G	NM_004279	rs76757936		102949431	1	no_errors	ENST00000249269	ensembl	human	known	74_37	silent	SNP	0.984	A	A	102949431	G	A	102949431	2	1	26	1	0	0	0	0	0	0	0	1	12143	1074	38	1		1	PMPCB	7	102949431	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	2665515	102949431	56189232	65	1870											
RELN	5649	genome.wustl.edu	37	chr7	103276804	103276804	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcagcaccacggatagaGtaaaagttatggtaagagga	11	6	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:103276804G>T	ENST00000428762.1	-	18	2340	c.2181C>A	c.(2179-2181)taC>taA	p.Y727*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Y727*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y727*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	727					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)		CACGGATAGAGTAAAAGTTAT	0.473																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						70	68	69					7																	103276804		2203	4300	6503	RELN	SO:0001587	stop_gained	0			-	HGNC		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.2181C>A	7.37:g.103276804G>T	ENSP00000392423:p.Tyr727*	Somatic	0	33	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	18	0	0	57	0.00	0	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.Y727*	ENST00000428762.1	37	c.2181	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	41	9.016605	0.99037	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.76	5.76	0.90799	.	0.062821	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	.	.	.	X	727	.	ENSP00000345694:Y727X	Y	-	3	2	RELN	103064040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.213000	0.58520	2.721000	0.93114	0.591000	0.81541	TAC	-	superfamily_Sialidases		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	G	NM_005045	-		103276804	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	103276804	G	T	103276804	4	4	26	1	0	0	0	0	0	1	0	0	13228	1024	36	3	8393	3	RELN	7	103276804	Nonsense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	327373	103276804	55861859	66	1871											
ERI1	90459	genome.wustl.edu	37	chr8	8873857	8873857	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacgtttcagcagtatgtaaGaccagagattaacacacagc	8	10	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:8873857G>T	ENST00000523898.1	+	5	1203	c.524G>T	c.(523-525)aGa>aTa	p.R175I	ERI1_ENST00000250263.7_Missense_Mutation_p.R175I|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.R175I			Q8IV48	ERI1_HUMAN	exoribonuclease 1	175	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						CAGTATGTAAGACCAGAGATT	0.363																																																	0								ENSG00000104626						169	167	168					8																	8873857		2203	4300	6503	ERI1	SO:0001583	missense	0			-	HGNC	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"Enhanced RNAi three prime mRNA exonucleases"	23994	protein-coding gene	gene with protein product	"exoribonuclease 1", "enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"	608739	"three prime histone mRNA exonuclease 1"	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.524G>T	8.37:g.8873857G>T	ENSP00000429615:p.Arg175Ile	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K4U7|Q9NSX3	Missense_Mutation	SNP	37	0	0	46	0.00	0	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom	p.R175I	ENST00000523898.1	37	c.524	CCDS5972.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167889	0.78339	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.50001	0.76;0.76;0.76	5.67	3.87	0.44632	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.123737	0.85682	D	0.000000	T	0.68513	0.3009	M	0.91612	3.225	0.80722	D	1	D	0.59767	0.986	P	0.59703	0.862	T	0.74836	-0.3529	10	0.87932	D	0	-16.3678	9.8239	0.40899	0.2283:0.0:0.7717:0.0	.	175	Q8IV48	ERI1_HUMAN	I	175	ENSP00000429615:R175I;ENSP00000250263:R175I;ENSP00000430190:R175I	ENSP00000250263:R175I	R	+	2	0	ERI1	8911267	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.277000	0.51654	1.396000	0.46663	0.563000	0.77884	AGA	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.363	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI1	protein_coding	OTTHUMT00000251471.2	G	NM_153332	-		8873857	1	no_errors	ENST00000250263	ensembl	human	known	74_37	missense	SNP	0.998	T	T	8873857	G	T	8873857	3	4	26	1	0	0	0	0	1	0	0	0	5229	942	33	3	538	3	ERI1	8	8873857	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		8873857	137490165	67	1872											
DOK2	9046	genome.wustl.edu	37	chr8	21767194	21767194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccccgaggccgtggAgcaggcaccggtgtggtggg	19	12	0	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:21767194A>G	ENST00000276420.4	-	5	1125	c.867T>C	c.(865-867)gcT>gcC	p.A289A	DOK2_ENST00000544659.1_Silent_p.A135A	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	289	Pro-rich.				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)			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)		GAGGCCGTGGAGCAGGCACCG	0.682																																																	0								ENSG00000147443						45	49	48					8																	21767194		2203	4300	6503	DOK2	SO:0001819	synonymous_variant	0			-	HGNC	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.867T>C	8.37:g.21767194A>G		Somatic	1	104	0.95		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	63	24.10	Q8N5A4	Silent	SNP	27	0	0	27	20.59	7	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.A289	ENST00000276420.4	37	c.867	CCDS6016.1	8																																																																																			-	NULL		0.682	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	protein_coding	OTTHUMT00000253735.3	A	NM_003974	-		21767194	-1	no_errors	ENST00000276420	ensembl	human	known	74_37	silent	SNP	0.000	G	G	21767194	A	G	21767194	2	3	26	1	0	0	0	0	0	0	0	1	4699	291	11	5		5	DOK2	8	21767194	Silent	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	12893337	21767194	124596828	68	1873											
ST18	9705	genome.wustl.edu	37	chr8	53084940	53084940	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcactcgtctgcttcatcgcTctctgcttttaaagactgga	8	12	3	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:53084940T>A	ENST00000276480.7	-	10	1164	c.481A>T	c.(481-483)Agc>Tgc	p.S161C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	161					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTTCATCGCTCTCTGCTTTT	0.393																																																	0								ENSG00000147488						110	102	104					8																	53084940		2203	4300	6503	ST18	SO:0001583	missense	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.481A>T	8.37:g.53084940T>A	ENSP00000276480:p.Ser161Cys	Somatic	0	61	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	71	22.83	Q17RY1	Missense_Mutation	SNP	47	0	0	65	13.33	10	pfam_Myelin_TF,pfam_Znf_C2HC	p.S161C	ENST00000276480.7	37	c.481	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761216	0.31137	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.49720	0.78;0.77	5.63	1.89	0.25635	.	0.645425	0.17677	N	0.165780	T	0.35970	0.0950	L	0.47716	1.5	0.27953	N	0.937066	B	0.09022	0.002	B	0.08055	0.003	T	0.25117	-1.0141	10	0.45353	T	0.12	-1.2294	5.6484	0.17602	0.1257:0.1431:0.0:0.7311	.	161	O60284	ST18_HUMAN	C	161	ENSP00000276480:S161C;ENSP00000428521:S161C	ENSP00000276480:S161C	S	-	1	0	ST18	53247493	0.958000	0.32768	0.480000	0.27341	0.575000	0.36095	1.689000	0.37700	0.076000	0.16826	0.533000	0.62120	AGC	-	NULL		0.393	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	T		-		53084940	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	SNP	0.730	A	A	53084940	T	A	53084940	3	1	26	1	0	0	0	0	1	0	0	0	15219	1551	54	5	2730	5	ST18	8	53084940	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	31317746	53084940	93279082	69	1874											
PREX2	80243	genome.wustl.edu	37	chr8	69032459	69032459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaccaatctcctaaaagGgcaggctgttgtgagggcct	11	9	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:69032459G>A	ENST00000288368.4	+	29	3810	c.3533G>A	c.(3532-3534)gGg>gAg	p.G1178E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1178					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCCTAAAAGGGCAGGCTGTT	0.383																																																	0								ENSG00000046889						117	117	117					8																	69032459		2203	4300	6503	PREX2	SO:0001583	missense	0			-	HGNC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3533G>A	8.37:g.69032459G>A	ENSP00000288368:p.Gly1178Glu	Somatic	0	33	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	44	0	0	50	13.79	8	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1178E	ENST00000288368.4	37	c.3533	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791474	0.90367	.	.	ENSG00000046889	ENST00000288368	T	0.34472	1.36	5.29	5.29	0.74685	.	0.058678	0.64402	N	0.000002	T	0.59838	0.2223	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.61023	-0.7146	10	0.59425	D	0.04	.	19.3067	0.94165	0.0:0.0:1.0:0.0	.	1178	Q70Z35	PREX2_HUMAN	E	1178	ENSP00000288368:G1178E	ENSP00000288368:G1178E	G	+	2	0	PREX2	69195013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.623000	0.88846	0.650000	0.86243	GGG	-	NULL		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	protein_coding	OTTHUMT00000378620.1	G	NM_025170	-		69032459	1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69032459	G	A	69032459	3	1	26	1	0	0	0	0	1	0	0	0	12482	1232	43	2	3876	2	PREX2	8	69032459	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	15947519	69032459	77331563	70	1875											
ZNF704	619279	genome.wustl.edu	37	chr8	81577130	81577130	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcaacttagtctccgTtttggcacaaggagtttctg	9	10	4	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:81577130T>A	ENST00000327835.3	-	6	1078	c.847A>T	c.(847-849)Acg>Tcg	p.T283S	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	283							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTAGTCTCCGTTTTGGCACAA	0.582																																																	0								ENSG00000164684						145	128	133					8																	81577130		2203	4300	6503	ZNF704	SO:0001583	missense	0			-	HGNC	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.847A>T	8.37:g.81577130T>A	ENSP00000331462:p.Thr283Ser	Somatic	0	100	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	114	13.64	B2RNE6|B9EGW6	Missense_Mutation	SNP	34	0	0	51	17.74	11	pfscan_Znf_C2H2	p.T283S	ENST00000327835.3	37	c.847	CCDS34913.1	8	.	.	.	.	.	.	.	.	.	.	T	9.360	1.067769	0.20067	.	.	ENSG00000164684	ENST00000327835	D	0.82711	-1.64	6.07	2.1	0.27182	.	0.406531	0.28247	N	0.016053	T	0.57504	0.2058	N	0.03608	-0.345	0.44611	D	0.997584	B	0.20052	0.041	B	0.16722	0.016	T	0.47749	-0.9093	10	0.07030	T	0.85	-14.442	8.7887	0.34837	0.1189:0.0:0.2488:0.6323	.	283	Q6ZNC4	ZN704_HUMAN	S	283	ENSP00000331462:T283S	ENSP00000331462:T283S	T	-	1	0	ZNF704	81739685	1.000000	0.71417	0.968000	0.41197	0.861000	0.49209	3.776000	0.55356	0.494000	0.27859	0.528000	0.53228	ACG	-	NULL		0.582	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	protein_coding	OTTHUMT00000379964.2	T	NM_001033723	-		81577130	-1	no_errors	ENST00000327835	ensembl	human	known	74_37	missense	SNP	0.999	A	A	81577130	T	A	81577130	3	1	26	1	0	0	0	0	1	0	0	0	18114	1725	60	5	407	5	ZNF704	8	81577130	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	12544671	81577130	64786892	71	1876											
C9orf84	158401	genome.wustl.edu	37	chr9	114521079	114521079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagtaggcaaagttggtagGtgttttctactacttacaaa	10	5	1	1	rs572225473		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr9:114521079G>C	ENST00000318737.4	-	4	428	c.300C>G	c.(298-300)caC>caG	p.H100Q	C9orf84_ENST00000374283.5_Missense_Mutation_p.H164Q|C9orf84_ENST00000394777.4_Missense_Mutation_p.H61Q|C9orf84_ENST00000374287.3_Missense_Mutation_p.H100Q|C9orf84_ENST00000394779.3_Missense_Mutation_p.H61Q	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	100										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGTTGGTAGGTGTTTTCTAC	0.279																																																	0								ENSG00000165181						40	42	41					9																	114521079		2203	4298	6501	C9orf84	SO:0001583	missense	0			-	HGNC	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.300C>G	9.37:g.114521079G>C	ENSP00000322108:p.His100Gln	Somatic	0	40	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	37	0	0	52	20.00	13	superfamily_RuvA_2-like	p.H100Q	ENST00000318737.4	37	c.300	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.420803	0.00188	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.93	-9.77	0.00500	.	1.219250	0.05840	N	0.619206	T	0.16599	0.0399	N	0.11201	0.11	0.09310	N	0.999994	B;B;B;B	0.13145	0.001;0.001;0.003;0.007	B;B;B;B	0.12156	0.002;0.002;0.005;0.007	T	0.16453	-1.0402	10	0.09084	T	0.74	2.5721	0.6109	0.00761	0.4083:0.1438:0.1932:0.2547	.	61;164;100;61	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	Q	61;61;100;100;164	ENSP00000378259:H61Q;ENSP00000378257:H61Q;ENSP00000363405:H100Q;ENSP00000322108:H100Q;ENSP00000363401:H164Q	ENSP00000322108:H100Q	H	-	3	2	C9orf84	113560900	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-2.125000	0.01317	-2.505000	0.00508	-0.225000	0.12378	CAC	-	NULL		0.279	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	protein_coding	OTTHUMT00000053656.2	G	NM_173521	-		114521079	-1	no_errors	ENST00000318737	ensembl	human	known	74_37	missense	SNP	0.010	C	C	114521079	G	C	114521079	3	2	26	1	0	0	0	0	1	0	0	0	2502	1252	44	4	4126	4	C9orf84	9	114521079	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		114521079	26692352	72	1877											
PPYR1	5540	genome.wustl.edu	37	chr10	47087186	47087186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctctcgctcgtcctcGtggccctggagaggcatcag	11	16	2	1	rs144429123		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:47087186G>A	ENST00000395716.1	+	2	488	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V135M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	135					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.V135M(1)									GCTCGTCCTCGTGGCCCTGGA	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000204174						288	256	267					10																	47087186		2203	4300	6503	NPY4R	SO:0001583	missense	0			-	HGNC		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.403G>A	10.37:g.47087186G>A	ENSP00000379066:p.Val135Met	Somatic	0	96	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	56	17.65	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	53	0	0	41	4.65	2	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V135M	ENST00000395716.1	37	c.403	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978308	0.53720	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70986	-0.53;-0.53	4.93	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.136285	0.49916	D	0.000137	T	0.70141	0.3190	N	0.26042	0.785	0.40798	D	0.983314	D	0.76494	0.999	D	0.64687	0.928	T	0.72734	-0.4204	10	0.87932	D	0	.	8.1752	0.31278	0.1832:0.0:0.8168:0.0	.	135	P50391	NPY4R_HUMAN	M	135	ENSP00000363431:V135M;ENSP00000379066:V135M	ENSP00000363431:V135M	V	+	1	0	PPYR1	46507192	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	6.054000	0.71096	2.464000	0.83262	0.609000	0.83330	GTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	protein_coding	OTTHUMT00000047837.1	G		rs144429123		47087186	1	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47087186	G	A	47087186	3	1	26	1	0	0	0	0	1	0	0	0	12421	1145	40	1	405	1	PPYR1	10	47087186	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		47087186	88447561	73	1878											
FAM22D	728130	genome.wustl.edu	37	chr10	89127109	89127109	+	IGR	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agggagccccttcagatgctCcagggactgacagatgctga	13	11	1	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:89127109C>G	ENST00000381697.2	+	0	3290				NUTM2D_ENST00000412718.1_Missense_Mutation_p.P552A			Q5VT03	NTM2D_HUMAN	NUT family member 2D																		TTCAGATGCTCCAGGGACTGA	0.622																																																	0								ENSG00000214562						12	14	13					10																	89127109		1603	3541	5144	NUTM2D	SO:0001628	intergenic_variant	0			-	HGNC			10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"family with sequence similarity 22, member D"	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672		10.37:g.89127109C>G		Somatic	0	148	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	94	24.19	A6NGV9	Missense_Mutation	SNP	16	0	0	14	22.22	4	NULL	p.P552A	ENST00000381697.2	37	c.1654		10	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574700	0.13623	.	.	ENSG00000214562	ENST00000412718	T	0.21734	1.99	1.25	0.205	0.15204	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.09310	N	0.999997	B	0.30211	0.273	B	0.19148	0.024	T	0.24799	-1.0150	8	0.51188	T	0.08	.	2.9239	0.05778	0.0:0.6482:0.0:0.3518	.	552	Q5VT03-2	.	A	552	ENSP00000396080:P552A	ENSP00000396080:P552A	P	+	1	0	FAM22D	89117089	0.011000	0.17503	0.360000	0.25837	0.316000	0.28119	0.034000	0.13776	0.600000	0.29862	0.186000	0.17326	CCA	-	NULL		0.622	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	NUTM2D	protein_coding	OTTHUMT00000470142.1	C	NR_075100	-		89127109	1	no_errors	ENST00000412718	ensembl	human	novel	74_37	missense	SNP	0.147	G	G	89127109	C	G	89127109	1	3	26	0	1	0	0	0	0	0	0	0	5546	855	30	4		4	FAM22D	10	89127109	IGR	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	42039923	89127109	46407638	74	1879											
GRK5	2869	genome.wustl.edu	37	chr10	121086078	121086078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggaaagaaatcctgAagttccctcacattagccag	9	9	1	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:121086078A>C	ENST00000392870.2	+	2	432	c.103A>C	c.(103-105)Aag>Cag	p.K35Q		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	35	Interaction with calmodulin.|N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGAAATCCTGAAGTTCCCTCA	0.572																																																	0								ENSG00000198873						76	71	73					10																	121086078		2203	4300	6503	GRK5	SO:0001583	missense	0			-	HGNC	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.103A>C	10.37:g.121086078A>C	ENSP00000376609:p.Lys35Gln	Somatic	0	45	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	D3DRD0|Q5T059	Missense_Mutation	SNP	28	0	0	52	0.00	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.K35Q	ENST00000392870.2	37	c.103	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	A	8.805	0.933793	0.18206	.	.	ENSG00000198873	ENST00000369106;ENST00000392870	T	0.02345	4.33	5.02	5.02	0.67125	Regulator of G protein signalling superfamily (1);	0.000000	0.53938	U	0.000053	T	0.02119	0.0066	N	0.11106	0.095	0.80722	D	1	B	0.17038	0.02	B	0.17979	0.02	T	0.56878	-0.7906	10	0.14656	T	0.56	-9.5191	14.742	0.69464	1.0:0.0:0.0:0.0	.	35	P34947	GRK5_HUMAN	Q	35	ENSP00000376609:K35Q	ENSP00000358102:K35Q	K	+	1	0	GRK5	121076068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.367000	0.59498	2.013000	0.59113	0.533000	0.62120	AAG	-	superfamily_Regulat_G_prot_signal_superfam		0.572	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	protein_coding	OTTHUMT00000050652.2	A	NM_005308	-		121086078	1	no_errors	ENST00000392870	ensembl	human	known	74_37	missense	SNP	1.000	C	C	121086078	A	C	121086078	3	2	26	1	0	0	0	0	1	0	0	0	6794	247	9	5	109	5	GRK5	10	121086078	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	31958969	121086078	14448669	75	1880											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16810669	16810669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatctccagggagcggccGgctgaggtagcgagatgagg	18	8	1	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:16810669G>A	ENST00000355661.3	-	23	3341	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R1111W|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R1112W|PLEKHA7_ENST00000532079.1_3'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1111					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAGCGGCCGGCTGAGGTAG	0.662																																																	0								ENSG00000166689						49	44	46					11																	16810669		2200	4294	6494	PLEKHA7	SO:0001583	missense	0			-	HGNC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.3331C>T	11.37:g.16810669G>A	ENSP00000347883:p.Arg1111Trp	Somatic	0	22	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	17.39	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	30	0	0	24	10.71	3	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.R1112W	ENST00000355661.3	37	c.3334	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251712	0.80135	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.10477	2.94;2.87;2.87	5.81	5.81	0.92471	.	0.800820	0.11677	N	0.540170	T	0.29684	0.0741	M	0.72894	2.215	0.40988	D	0.98483	D;D;D;D;B	0.67145	0.996;0.987;0.99;0.996;0.008	P;B;B;P;B	0.56398	0.702;0.394;0.425;0.797;0.003	T	0.00891	-1.1525	10	0.87932	D	0	-0.4262	15.7285	0.77784	0.0:0.0:0.8552:0.1448	.	686;1111;1111;1112;228	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	W	1111;1111;1112	ENSP00000435389:R1111W;ENSP00000347883:R1111W;ENSP00000416895:R1112W	ENSP00000347883:R1111W	R	-	1	2	PLEKHA7	16767245	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	3.405000	0.52630	2.745000	0.94114	0.655000	0.94253	CGG	-	NULL		0.662	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	protein_coding	OTTHUMT00000387242.2	G	NM_175058	-		16810669	-1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16810669	G	A	16810669	3	1	26	1	0	0	0	0	1	0	0	0	12063	1115	39	1	38	1	PLEKHA7	11	16810669	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		16810669	118195847	76	1881											
CHRM4	1132	genome.wustl.edu	37	chr11	46407064	46407064	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcacacactcattgcctgtCtgcttcgtcacaatctggat	7	13	5	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:46407064C>G	ENST00000433765.2	-	1	1043	c.1044G>C	c.(1042-1044)caG>caC	p.Q348H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	348					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CATTGCCTGTCTGCTTCGTCA	0.662																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0								ENSG00000180720						173	185	181					11																	46407064		2148	4239	6387	CHRM4	SO:0001583	missense	0			-	HGNC	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1044G>C	11.37:g.46407064C>G	ENSP00000409378:p.Gln348His	Somatic	0	84	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	35	44.62	B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	25	0	0	21	47.50	19	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt	p.Q348H	ENST00000433765.2	37	c.1044	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	c	9.367	1.069472	0.20147	.	.	ENSG00000180720	ENST00000433765	T	0.60171	0.21	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64821	0.2633	L	0.59436	1.845	0.46774	D	0.99919	P	0.45011	0.848	P	0.53266	0.722	T	0.67425	-0.5674	9	0.62326	D	0.03	-20.0352	11.805	0.52150	0.0:0.9149:0.0:0.0851	.	348	P08173	ACM4_HUMAN	H	348	ENSP00000409378:Q348H	ENSP00000409378:Q348H	Q	-	3	2	CHRM4	46363640	0.999000	0.42202	1.000000	0.80357	0.656000	0.38851	0.949000	0.29109	2.307000	0.77673	0.457000	0.33378	CAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M4_rcpt		0.662	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	protein_coding	OTTHUMT00000334985.1	C	NM_000741	-		46407064	-1	no_errors	ENST00000433765	ensembl	human	known	74_37	missense	SNP	1.000	G	G	46407064	C	G	46407064	3	3	26	1	0	0	0	0	1	0	0	0	3381	912	32	4	399	4	CHRM4	11	46407064	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	29596395	46407064	88599452	77	1882											
MED17	9440	genome.wustl.edu	37	chr11	93529663	93529663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaatgtccggaggaccAcctttatgtcctagagcata	10	10	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:93529663A>T	ENST00000251871.3	+	7	1387	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	367					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)|transcription factor complex (GO:0005667)	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)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGGAGGACCACCTTTATGTC	0.378																																																	0								ENSG00000042429						163	157	159					11																	93529663		2201	4298	6499	MED17	SO:0001583	missense	0			-	HGNC	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1100A>T	11.37:g.93529663A>T	ENSP00000251871:p.His367Leu	Somatic	0	64	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	46	0	0	44	23.73	14	pfam_Mediator_Med17	p.H367L	ENST00000251871.3	37	c.1100	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669742	0.67814	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.52295	0.67	6.06	6.06	0.98353	.	0.094194	0.64402	D	0.000001	T	0.48114	0.1482	M	0.64404	1.975	0.80722	D	1	B	0.27013	0.166	B	0.28916	0.096	T	0.39482	-0.9612	10	0.21540	T	0.41	-26.1738	16.6093	0.84858	1.0:0.0:0.0:0.0	.	367	Q9NVC6	MED17_HUMAN	L	367;337	ENSP00000251871:H367L	ENSP00000251871:H367L	H	+	2	0	MED17	93169311	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.417000	0.80156	2.324000	0.78689	0.533000	0.62120	CAC	-	pfam_Mediator_Med17		0.378	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	protein_coding	OTTHUMT00000394800.2	A	NM_004268	-		93529663	1	no_errors	ENST00000251871	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93529663	A	T	93529663	3	4	26	1	0	0	0	0	1	0	0	0	9437	159	6	5	1126	5	MED17	11	93529663	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	47122599	93529663	41476853	78	1883											
TMPRSS5	80975	genome.wustl.edu	37	chr11	113560630	113560630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacactagggggccccCgctatctccctaagggatcc	12	15	1	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:113560630C>T	ENST00000299882.5	-	12	1364	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	TMPRSS5_ENST00000540540.1_Missense_Mutation_p.G147R|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.G397R|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.G337R|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.G362R|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.G293R	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	406	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGGGGGCCCCCGCTATCTCCC	0.602																																																	0								ENSG00000166682						12	13	12					11																	113560630		1870	4090	5960	TMPRSS5	SO:0001583	missense	0			-	HGNC	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1216G>A	11.37:g.113560630C>T	ENSP00000299882:p.Gly406Arg	Somatic	0	36	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39		Missense_Mutation	SNP	19	0	0	21	30.00	9	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G406R	ENST00000299882.5	37	c.1216	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	c	17.14	3.312692	0.60414	.	.	ENSG00000166682	ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D;D	0.99871	-7.35;-7.35;-7.35;-7.35;-7.35;-7.35	4.52	4.52	0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	U	0.000009	D	0.99924	0.9965	H	0.99590	4.645	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.971;1.0	D	0.95831	0.8858	10	0.87932	D	0	.	16.1895	0.81977	0.0:1.0:0.0:0.0	.	337;397;406	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	R	147;406;397;362;337;293	ENSP00000437761:G147R;ENSP00000299882:G406R;ENSP00000441104:G397R;ENSP00000445528:G362R;ENSP00000440783:G337R;ENSP00000445930:G293R	ENSP00000299882:G406R	G	-	1	0	TMPRSS5	113065840	1.000000	0.71417	0.845000	0.33349	0.088000	0.18126	5.727000	0.68523	2.354000	0.79902	0.479000	0.44913	GGG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.602	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	protein_coding	OTTHUMT00000398652.1	C	NM_030770	-		113560630	-1	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113560630	C	T	113560630	3	4	26	1	0	0	0	0	1	0	0	0	16257	652	23	1	165	1	TMPRSS5	11	113560630	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	20030967	113560630	21445886	79	1884											
TECTA	7007	genome.wustl.edu	37	chr11	121028837	121028837	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccagcttatcatcaacttCgacaagtggtcggcccccaa	7	14	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:121028837C>A	ENST00000392793.1	+	14	4864	c.4593C>A	c.(4591-4593)ttC>ttA	p.F1531L	TECTA_ENST00000264037.2_Missense_Mutation_p.F1531L			O75443	TECTA_HUMAN	tectorin alpha	1531	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCATCAACTTCGACAAGTGGT	0.547																																																	0								ENSG00000109927						101	83	89					11																	121028837		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4593C>A	11.37:g.121028837C>A	ENSP00000376543:p.Phe1531Leu	Somatic	0	35	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35		Missense_Mutation	SNP	32	0	0	22	35.29	12	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.F1531L	ENST00000392793.1	37	c.4593	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608471	0.66558	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58940	0.3;0.3	5.67	4.57	0.56435	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	L	0.58428	1.81	0.44595	D	0.99756	D	0.89917	1.0	D	0.83275	0.996	T	0.61594	-0.7031	10	0.16896	T	0.51	.	12.7795	0.57469	0.0:0.8548:0.0:0.1452	.	1531	O75443	TECTA_HUMAN	L	1531	ENSP00000376543:F1531L;ENSP00000264037:F1531L	ENSP00000264037:F1531L	F	+	3	2	TECTA	120534047	0.380000	0.25131	1.000000	0.80357	0.997000	0.91878	0.012000	0.13287	2.687000	0.91594	0.563000	0.77884	TTC	-	pfam_VWF_type-D,smart_VWF_type-D		0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422	-		121028837	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121028837	C	A	121028837	3	1	26	1	0	0	0	0	1	0	0	0	15754	883	31	3	4643	3	TECTA	11	121028837	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	7468207	121028837	13977679	80	1885											
PRMT8	56341	genome.wustl.edu	37	chr12	3678670	3678670	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggcttatgtttccagacCgggcagctttgtacgtggta	14	8	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:3678670C>A	ENST00000382622.3	+	6	1042	c.652C>A	c.(652-654)Cgg>Agg	p.R218R	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.R209R	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	218	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTTTCCAGACCGGGCAGCTTT	0.473																																																	0								ENSG00000111218						143	126	132					12																	3678670		2203	4300	6503	PRMT8	SO:0001819	synonymous_variant	0			-	HGNC	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.652C>A	12.37:g.3678670C>A		Somatic	0	68	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	24.19	B2RDP0|Q8TBJ8	Silent	SNP	35	0	0	34	32.00	16	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.R218	ENST00000382622.3	37	c.652	CCDS8521.2	12																																																																																			-	pfam_Arg_MeTrfase		0.473	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	protein_coding	OTTHUMT00000250297.2	C	NM_019854	-		3678670	1	no_errors	ENST00000382622	ensembl	human	known	74_37	silent	SNP	1.000	A	A	3678670	C	A	3678670	2	1	26	1	0	0	0	0	0	0	0	1	12547	643	23	3		3	PRMT8	12	3678670	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		3678670	130173225	81	1886											
KIF5A	3798	genome.wustl.edu	37	chr12	57969035	57969035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgggagctctcatccTgccagctcctcatctctcag	10	17	4	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:57969035T>C	ENST00000455537.2	+	16	2159	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	KIF5A_ENST00000286452.5_Missense_Mutation_p.C540R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	629					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCTCTCATCCTGCCAGCTCCT	0.542																																																	0								ENSG00000155980						41	40	40					12																	57969035		2203	4300	6503	KIF5A	SO:0001583	missense	0			-	HGNC	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1885T>C	12.37:g.57969035T>C	ENSP00000408979:p.Cys629Arg	Somatic	0	35	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	A6H8M5|Q4LE26	Missense_Mutation	SNP	29	0	0	19	50.00	19	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C629R	ENST00000455537.2	37	c.1885	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938225	0.73557	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.82255	-1.59;-1.59	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.78049	2.395	0.80722	D	1	D;P	0.54601	0.967;0.956	P;P	0.59948	0.866;0.786	D	0.88977	0.3405	10	0.44086	T	0.13	.	13.2727	0.60170	0.0:0.0:0.0:1.0	.	540;629	B7Z2M7;Q12840	.;KIF5A_HUMAN	R	629;540	ENSP00000408979:C629R;ENSP00000286452:C540R	ENSP00000286452:C540R	C	+	1	0	KIF5A	56255302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.029000	0.70895	2.027000	0.59764	0.533000	0.62120	TGC	-	NULL		0.542	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	protein_coding	OTTHUMT00000407634.1	T	NM_004984	-		57969035	1	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57969035	T	C	57969035	3	2	26	1	0	0	0	0	1	0	0	0	8307	1580	55	5	1947	5	KIF5A	12	57969035	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	54290365	57969035	75882860	82	1887											
PTPRB	5787	genome.wustl.edu	37	chr12	70988329	70988329	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtagaggtagccaggggtCagcccgtgaaaagcatagga	15	7	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:70988329C>T	ENST00000261266.5	-	4	809	c.780G>A	c.(778-780)ctG>ctA	p.L260L	PTPRB_ENST00000451516.2_Silent_p.L260L|PTPRB_ENST00000550857.1_Silent_p.L260L|PTPRB_ENST00000538708.1_Silent_p.L260L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.L478L|PTPRB_ENST00000334414.6_Silent_p.L478L|PTPRB_ENST00000551525.1_Silent_p.L477L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	260	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCAGGGGTCAGCCCGTGAA	0.502																																																	0								ENSG00000127329						151	149	150					12																	70988329		2004	4191	6195	PTPRB	SO:0001819	synonymous_variant	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.780G>A	12.37:g.70988329C>T		Somatic	0	59	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	63	17.11	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	36	0	0	43	15.69	8	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L478	ENST00000261266.5	37	c.1434	CCDS44944.1	12																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	C		-		70988329	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	silent	SNP	0.994	T	T	70988329	C	T	70988329	2	4	26	1	0	0	0	0	0	0	0	1	12804	813	29	2		2	PTPRB	12	70988329	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	13019294	70988329	62863566	83	1888											
RASAL1	8437	genome.wustl.edu	37	chr12	113539812	113539812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtacggctgcagccggCggctgagggaacacagcttc	16	11	0	1	rs200091326		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:113539812C>T	ENST00000261729.5	-	20	2419	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T	RASAL1_ENST00000546530.1_Missense_Mutation_p.A704T|RASAL1_ENST00000548055.1_Missense_Mutation_p.A703T|RASAL1_ENST00000418411.2_5'Flank|RASAL1_ENST00000446861.3_Missense_Mutation_p.A674T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	702					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGCAGCCGGCGGCTGAGGGA	0.592													c|||	1	0.000199681	0	0	5008	,	,		17597	0		0.001	False		,,,				2504	0																0								ENSG00000111344		THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	81	74	76		2110,2020,2104	0.6	0.1	12		76	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense,missense	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	58,58,58	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign,benign,benign	704/807,674/777,702/805	113539812	6,13000	2203	4300	6503	RASAL1	SO:0001583	missense	0			-	HGNC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2104G>A	12.37:g.113539812C>T	ENSP00000261729:p.Ala702Thr	Somatic	0	65	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	69	18.82	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	34	0	0	32	11.11	4	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.A704T	ENST00000261729.5	37	c.2110	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	c	10.56	1.385304	0.25031	0.0	6.98E-4	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.06	0.615	0.17608	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.972530	0.08472	N	0.940903	D	0.83326	0.5230	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.19200	0.034;0.02;0.025;0.034	B;B;B;B	0.16289	0.01;0.009;0.015;0.01	T	0.67891	-0.5553	10	0.18276	T	0.48	.	10.285	0.43562	0.123:0.2503:0.6266:0.0	.	703;704;702;674	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	T	704;702;674;703	ENSP00000450244:A704T;ENSP00000261729:A702T;ENSP00000395920:A674T;ENSP00000448510:A703T	ENSP00000261729:A702T	A	-	1	0	RASAL1	112024195	0.000000	0.05858	0.091000	0.20842	0.263000	0.26337	0.016000	0.13377	0.106000	0.17784	0.556000	0.70494	GCC	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif		0.592	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	protein_coding	OTTHUMT00000405522.2	C	NM_004658	rs200091326		113539812	-1	no_errors	ENST00000546530	ensembl	human	known	74_37	missense	SNP	0.004	T	T	113539812	C	T	113539812	3	4	26	1	0	0	0	0	1	0	0	0	13071	768	27	1	322	1	RASAL1	12	113539812	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	42551483	113539812	20312083	84	1889											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751171	19751171	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatcccccctgtacaAcatgcagcaggccatgtact	7	16	0	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr13:19751171A>T	ENST00000400113.3	-	4	1056	c.952T>A	c.(952-954)Ttg>Atg	p.L318M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	318					'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)		CCCCTGTACAACATGCAGCAG	0.567																																																	0								ENSG00000198033						170	141	151					13																	19751171		2203	4300	6503	TUBA3C	SO:0001583	missense	0			-	HGNC	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.952T>A	13.37:g.19751171A>T	ENSP00000382982:p.Leu318Met	Somatic	0	135	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	129	18.87	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	31	0	0	27	25.00	9	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.L318M	ENST00000400113.3	37	c.952	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	a	9.833	1.188819	0.21954	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.82255	-1.59	1.21	-1.63	0.08345	.	0.000000	0.37530	U	0.002059	T	0.77916	0.4202	.	.	.	0.32322	N	0.562223	.	.	.	.	.	.	T	0.73672	-0.3909	7	0.42905	T	0.14	.	6.0489	0.19775	0.3773:0.0:0.6227:0.0	.	.	.	.	M	318	ENSP00000382982:L318M	ENSP00000354037:L318M	L	-	1	2	TUBA3C	18649171	0.988000	0.35896	0.993000	0.49108	0.527000	0.34593	0.033000	0.13754	-0.503000	0.06586	0.155000	0.16302	TTG	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	A	NM_006001	-		19751171	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19751171	A	T	19751171	3	4	26	1	0	0	0	0	1	0	0	0	16753	40	2	5	408	5	TUBA3C	13	19751171	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09		19751171	95418707	85	1890											
F10	2159	genome.wustl.edu	37	chr13	113803498	113803498	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggcagtccaccaggctcaaGatgctggaggtgccctacgt	13	13	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr13:113803498G>A	ENST00000375559.3	+	8	1172	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	378	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCAGGCTCAAGATGCTGGAGG	0.622																																																	0								ENSG00000126218						41	42	41					13																	113803498		2203	4299	6502	F10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1134G>A	13.37:g.113803498G>A		Somatic	0	45	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	Q14340	Silent	SNP	27	0	0	18	45.45	15	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.K378	ENST00000375559.3	37	c.1134	CCDS9530.1	13																																																																																			-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.622	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	protein_coding	OTTHUMT00000045841.3	G		-		113803498	1	no_errors	ENST00000375559	ensembl	human	known	74_37	silent	SNP	1.000	A	A	113803498	G	A	113803498	2	1	26	1	0	0	0	0	0	0	0	1	5338	933	33	2		2	F10	13	113803498	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	94052327	113803498	1366380	86	1891											
TMEM63C	57156	genome.wustl.edu	37	chr14	77697934	77697934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtctcttccagggaCgaggatctgattaacaagtg	12	8	2	1	rs201147786	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:77697934C>T	ENST00000298351.4	+	7	498	c.354C>T	c.(352-354)gaC>gaT	p.D118D		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	118					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTTCCAGGGACGAGGATCTGA	0.557													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		16891	0		0	False		,,,				2504	0																0								ENSG00000165548	C		23,3939		0,23,1958	102	99	100		354	-6	0	14		100	0,7434		0,0,3717	no	coding-synonymous	TMEM63C	NM_020431.2		0,23,5675	TT,TC,CC		0.0,0.5805,0.2018		118/807	77697934	23,11373	1981	3717	5698	TMEM63C	SO:0001819	synonymous_variant	0			GMAF=0	HGNC		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.354C>T	14.37:g.77697934C>T		Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	18.75	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	25	0	0	27	27.03	10	pfam_DUF221	p.D118	ENST00000298351.4	37	c.354	CCDS45141.1	14																																																																																			-	NULL		0.557	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	protein_coding	OTTHUMT00000414193.1	C		rs201147786		77697934	1	no_errors	ENST00000298351	ensembl	human	known	74_37	silent	SNP	0.760	T	T	77697934	C	T	77697934	2	4	26	1	0	0	0	0	0	0	0	1	16199	535	19	1		1	TMEM63C	14	77697934	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		77697934	29651606	87	1892											
SETD3	84193	genome.wustl.edu	37	chr14	99865106	99865106	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgattgagactttcattttcGgacctggtcccattagggat	10	8	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:99865106G>T	ENST00000331768.5	-	13	1854	c.1695C>A	c.(1693-1695)tcC>tcA	p.S565S		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	565					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.S565S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTCATTTTCGGACCTGGTCC	0.463																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000183576						229	206	214					14																	99865106		2203	4300	6503	SETD3	SO:0001819	synonymous_variant	0			-	HGNC	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1695C>A	14.37:g.99865106G>T		Somatic	0	59	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.00	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	38	0	0	35	0.00	0	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.S565	ENST00000331768.5	37	c.1695	CCDS9951.1	14																																																																																			-	NULL		0.463	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	protein_coding	OTTHUMT00000072339.3	G	NM_032233	-		99865106	-1	no_errors	ENST00000331768	ensembl	human	known	74_37	silent	SNP	0.000	T	T	99865106	G	T	99865106	2	4	26	1	0	0	0	0	0	0	0	1	14140	1103	39	3		3	SETD3	14	99865106	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	22167172	99865106	7484434	88	1893											
INF2	64423	genome.wustl.edu	37	chr14	105177455	105177455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacggcttcaagatcagcAcattgctgaagctcacggag	11	12	3	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:105177455A>C	ENST00000392634.4	+	15	2462	c.2350A>C	c.(2350-2352)Aca>Cca	p.T784P	INF2_ENST00000330634.7_Missense_Mutation_p.T784P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	784	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAAGATCAGCACATTGCTGAA	0.667																																																	0								ENSG00000203485						21	23	22					14																	105177455		2067	4203	6270	INF2	SO:0001583	missense	0			-	HGNC	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2350A>C	14.37:g.105177455A>C	ENSP00000376410:p.Thr784Pro	Somatic	0	27	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	28	0	0	37	24.00	12	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.T784P	ENST00000392634.4	37	c.2350	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422090	0.62622	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.19105	2.17;2.17	4.23	1.72	0.24424	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.112774	0.64402	D	0.000010	T	0.41351	0.1155	M	0.88450	2.955	0.80722	D	1	D;D	0.59767	0.982;0.986	P;P	0.58928	0.764;0.848	T	0.19484	-1.0304	10	0.56958	D	0.05	.	6.226	0.20708	0.7781:0.0:0.0805:0.1414	.	784;784	Q27J81-2;Q27J81	.;INF2_HUMAN	P	784	ENSP00000376406:T784P;ENSP00000376410:T784P	ENSP00000252527:T252P	T	+	1	0	INF2	104248500	1.000000	0.71417	0.048000	0.18961	0.819000	0.46315	4.152000	0.58111	0.051000	0.15978	0.402000	0.26972	ACA	-	pfam_FH2_Formin,smart_FH2_Formin		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	protein_coding	OTTHUMT00000074371.4	A	NM_022489	-		105177455	1	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	SNP	0.997	C	C	105177455	A	C	105177455	3	2	26	1	0	0	0	0	1	0	0	0	7736	159	6	5	2408	5	INF2	14	105177455	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	5312349	105177455	2172085	89	1894											
OR4N4	283694	genome.wustl.edu	37	chr15	22382584	22382584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttaattttctaccttatcAtcctccctggaaattttctc	2	12	4	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:22382584A>T	ENST00000328795.4	+	1	203	c.112A>T	c.(112-114)Atc>Ttc	p.I38F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	38						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTACCTTATCATCCTCCCTGG	0.433																																																	0								ENSG00000183706						203	201	202					15																	22382584		2193	4270	6463	OR4N4	SO:0001583	missense	0			-	HGNC	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.112A>T	15.37:g.22382584A>T	ENSP00000332500:p.Ile38Phe	Somatic	0	254	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	297	8.33	Q6IEY3|Q6IF56	Missense_Mutation	SNP	81	0	0	148	6.92	11	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I38F	ENST00000328795.4	37	c.112	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	13.59	2.281318	0.40394	.	.	ENSG00000183706	ENST00000328795	T	0.00599	6.3	3.24	3.24	0.37175	.	0.135801	0.33854	N	0.004491	T	0.01765	0.0056	M	0.70787	2.145	0.42338	D	0.992321	D	0.56287	0.975	P	0.60345	0.873	T	0.59968	-0.7354	10	0.87932	D	0	-9.2174	9.793	0.40717	1.0:0.0:0.0:0.0	.	38	Q8N0Y3	OR4N4_HUMAN	F	38	ENSP00000332500:I38F	ENSP00000332500:I38F	I	+	1	0	OR4N4	19883948	0.192000	0.23301	0.985000	0.45067	0.013000	0.08279	3.919000	0.56439	1.465000	0.48006	0.164000	0.16699	ATC	-	prints_GPCR_Rhodpsn		0.433	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	protein_coding	OTTHUMT00000414922.1	A		-		22382584	1	no_errors	ENST00000328795	ensembl	human	known	74_37	missense	SNP	0.992	T	T	22382584	A	T	22382584	3	4	26	1	0	0	0	0	1	0	0	0	11080	217	8	5	114	5	OR4N4	15	22382584	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09		22382584	80148808	90	1895											
MGA	23269	genome.wustl.edu	37	chr15	41988903	41988903	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcattagcacagaaagaatActcgacgattcaaaggattc	8	8	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:41988903A>T	ENST00000570161.1	+	2	1695	c.1695A>T	c.(1693-1695)atA>atT	p.I565I	MGA_ENST00000545763.1_Silent_p.I565I|MGA_ENST00000566586.1_Silent_p.I565I|MGA_ENST00000219905.7_Silent_p.I565I|MGA_ENST00000389936.4_Silent_p.I565I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				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)	CAGAAAGAATACTCGACGATT	0.413																																																	0								ENSG00000174197						63	57	59					15																	41988903		1867	4114	5981	MGA	SO:0001819	synonymous_variant	0			-	HGNC	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.1695A>T	15.37:g.41988903A>T		Somatic	0	15	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	43	2.27	1	46	25.81	16	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.I565	ENST00000570161.1	37	c.1695	CCDS55959.1	15																																																																																			-	NULL		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	A	NM_001164273.1	-		41988903	1	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	SNP	0.000	T	T	41988903	A	T	41988903	2	4	26	1	0	0	0	0	0	0	0	1	9542	381	14	5		5	MGA	15	41988903	Silent	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	19606319	41988903	60542489	91	1896											
PRTG	283659	genome.wustl.edu	37	chr15	55919246	55919246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatgagaacacagatgaGgatgcaggtcaaggctatgc	13	7	1	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:55919246G>T	ENST00000389286.4	-	17	2934	c.2887C>A	c.(2887-2889)Ctc>Atc	p.L963I		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACACAGATGAGGATGCAGGTC	0.408																																																	0								ENSG00000166450						123	120	121					15																	55919246		1940	4154	6094	PRTG	SO:0001583	missense	0			-	HGNC	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2887C>A	15.37:g.55919246G>T	ENSP00000373937:p.Leu963Ile	Somatic	0	70	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	36	47.06		Missense_Mutation	SNP	37	0	0	26	50.00	26	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L963I	ENST00000389286.4	37	c.2887	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270230	0.23221	.	.	ENSG00000166450	ENST00000389286	T	0.50813	0.73	5.02	4.1	0.47936	.	0.270973	0.36555	N	0.002538	T	0.38852	0.1056	L	0.39898	1.24	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.10941	-1.0608	10	0.15066	T	0.55	-8.6235	15.5982	0.76602	0.0748:0.0:0.9252:0.0	.	963	Q2VWP7	PRTG_HUMAN	I	963	ENSP00000373937:L963I	ENSP00000373937:L963I	L	-	1	0	PRTG	53706538	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	5.273000	0.65564	0.540000	0.28808	-1.151000	0.01829	CTC	-	NULL		0.408	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	protein_coding	OTTHUMT00000419357.1	G	NM_173814	-		55919246	-1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55919246	G	T	55919246	3	4	26	1	0	0	0	0	1	0	0	0	12643	1000	35	3	581	3	PRTG	15	55919246	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	13930343	55919246	46612146	92	1897											
LUC7L	55692	genome.wustl.edu	37	chr16	258115	258115	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgatttcctcctgtgtttCtgccagccgcttcttggcga	9	13	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr16:258115C>T	ENST00000293872.8	-	4	438	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LUC7L_ENST00000397783.1_Missense_Mutation_p.E110K|LUC7L_ENST00000494366.1_5'Flank|LUC7L_ENST00000337351.4_Missense_Mutation_p.E110K|LUC7L_ENST00000397780.1_Missense_Mutation_p.E57K	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	110					mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TCCTGTGTTTCTGCCAGCCGC	0.478																																																	0								ENSG00000007392						136	122	127					16																	258115		2203	4300	6503	LUC7L	SO:0001583	missense	0			-	HGNC	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.328G>A	16.37:g.258115C>T	ENSP00000293872:p.Glu110Lys	Somatic	0	54	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	31	0	0	15	42.31	11	pfam_Luc7-rel	p.E110K	ENST00000293872.8	37	c.328	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.647710	0.96714	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000397780;ENST00000430864;ENST00000443357	T	0.05382	3.45	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.37507	1.11	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.01156	-1.1434	10	0.40728	T	0.16	.	17.4167	0.87503	0.0:1.0:0.0:0.0	.	110	Q9NQ29	LUC7L_HUMAN	K	110;110;110;57;24;24	ENSP00000380882:E57K	ENSP00000293872:E110K	E	-	1	0	LUC7L	198116	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.546000	0.82137	2.654000	0.90174	0.563000	0.77884	GAA	-	pfam_Luc7-rel		0.478	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	protein_coding	OTTHUMT00000134239.1	C		-		258115	-1	no_errors	ENST00000293872	ensembl	human	known	74_37	missense	SNP	1.000	T	T	258115	C	T	258115	3	4	26	1	0	0	0	0	1	0	0	0	9084	922	32	2	819	2	LUC7L	16	258115	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		258115	90096638	93	1898											
EDC4	23644	genome.wustl.edu	37	chr16	67915420	67915420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcagccatgggatcccGgctcacagagcaccaggtaa	13	12	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr16:67915420G>T	ENST00000358933.5	+	21	3049	c.2810G>T	c.(2809-2811)cGg>cTg	p.R937L	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	937					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)		ATGGGATCCCGGCTCACAGAG	0.592																																																	0								ENSG00000038358						56	54	55					16																	67915420		2198	4300	6498	EDC4	SO:0001583	missense	0			-	HGNC	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.2810G>T	16.37:g.67915420G>T	ENSP00000351811:p.Arg937Leu	Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	37	0	0	40	10.87	5	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R937L	ENST00000358933.5	37	c.2810	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485347	0.44147	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.35	4.39	0.52855	.	0.424564	0.26000	N	0.026952	T	0.29256	0.0728	N	0.24115	0.695	0.33569	D	0.598427	B	0.22851	0.076	B	0.17433	0.018	T	0.30357	-0.9981	9	0.27785	T	0.31	-24.3032	7.3647	0.26766	0.1658:0.0:0.8342:0.0	.	937	Q6P2E9	EDC4_HUMAN	L	937	.	ENSP00000351811:R937L	R	+	2	0	EDC4	66472921	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.248000	0.32827	2.526000	0.85167	0.460000	0.39030	CGG	-	NULL		0.592	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	protein_coding	OTTHUMT00000268874.2	G	NM_014329	-		67915420	1	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67915420	G	T	67915420	3	4	26	1	0	0	0	0	1	0	0	0	4910	1116	39	3	2892	3	EDC4	16	67915420	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	67657305	67915420	22439333	94	1899											
ZZEF1	23140	genome.wustl.edu	37	chr17	4027291	4027291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcttgagggcctccaAcatgttctcggcatcaactg	10	11	3	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:4027291A>C	ENST00000381638.2	-	2	533	c.409T>G	c.(409-411)Ttg>Gtg	p.L137V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	137	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGCCTCCAACATGTTCTCG	0.502																																																	0								ENSG00000074755						121	95	104					17																	4027291		2203	4300	6503	ZZEF1	SO:0001583	missense	0			-	HGNC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.409T>G	17.37:g.4027291A>C	ENSP00000371051:p.Leu137Val	Somatic	0	82	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	110	13.39	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	33	0	0	46	13.21	7	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.L137V	ENST00000381638.2	37	c.409	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677140	0.68042	.	.	ENSG00000074755	ENST00000381638	T	0.43294	0.95	4.9	-7.99	0.01131	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	M	0.64997	1.995	0.48087	D	0.99958	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.68465	-0.5401	10	0.87932	D	0	-7.9101	14.1311	0.65255	0.4316:0.0:0.5684:0.0	.	137;137	O43149-3;O43149	.;ZZEF1_HUMAN	V	137	ENSP00000371051:L137V	ENSP00000371051:L137V	L	-	1	2	ZZEF1	3974040	0.998000	0.40836	0.855000	0.33649	0.815000	0.46073	0.478000	0.22212	-1.633000	0.01539	-1.032000	0.02404	TTG	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	protein_coding	OTTHUMT00000207480.1	A	NM_015113	-		4027291	-1	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	SNP	0.944	C	C	4027291	A	C	4027291	3	2	26	1	0	0	0	0	1	0	0	0	18262	40	2	5	8692	5	ZZEF1	17	4027291	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09		4027291	77167919	95	1900											
CHRNB1	1140	genome.wustl.edu	37	chr17	7360003	7360003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctagtcatcttcctggaCgccacgtaccacttgccccc	6	19	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:7360003C>T	ENST00000306071.2	+	11	1534	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	CHRNB1_ENST00000575379.1_Silent_p.D25D|CHRNB1_ENST00000536404.2_Silent_p.D417D|CHRNB1_ENST00000576360.1_Silent_p.D368D	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	489					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCTTCCTGGACGCCACGTACC	0.562																																																	0								ENSG00000170175						161	123	135					17																	7360003		2203	4300	6503	CHRNB1	SO:0001819	synonymous_variant	0			-	HGNC	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1467C>T	17.37:g.7360003C>T		Somatic	0	106	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	121	16.55	B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	26	0	0	44	8.33	4	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D489	ENST00000306071.2	37	c.1467	CCDS11106.1	17																																																																																			-	superfamily_Neurotrans-gated_channel_TM		0.562	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	protein_coding	OTTHUMT00000226942.3	C		-		7360003	1	no_errors	ENST00000306071	ensembl	human	known	74_37	silent	SNP	0.607	T	T	7360003	C	T	7360003	2	4	26	1	0	0	0	0	0	0	0	1	3392	535	19	1		1	CHRNB1	17	7360003	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	3332712	7360003	73835207	96	1901											
MYH4	4622	genome.wustl.edu	37	chr17	10346789	10346789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgttccttggcctccTccagctcgtgctggagcttg	11	16	0	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:10346789T>C	ENST00000255381.2	-	40	5833	c.5723A>G	c.(5722-5724)gAg>gGg	p.E1908G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					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						CTTGGCCTCCTCCAGCTCGTG	0.468																																																	0								ENSG00000264424						128	118	121					17																	10346789		2203	4300	6503	MYH4	SO:0001583	missense	0			-	HGNC		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.5723A>G	17.37:g.10346789T>C	ENSP00000255381:p.Glu1908Gly	Somatic	0	99	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	112	22.76		Missense_Mutation	SNP	31	0	0	48	29.41	20	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1908G	ENST00000255381.2	37	c.5723	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705864	0.89018	.	.	ENSG00000141048	ENST00000255381	D	0.85013	-1.93	5.19	5.19	0.71726	Myosin tail (1);	0.000000	0.37577	U	0.002023	D	0.89605	0.6763	M	0.87547	2.89	0.58432	D	0.999999	B	0.32507	0.373	B	0.41202	0.35	D	0.90518	0.4486	10	0.72032	D	0.01	.	15.5124	0.75793	0.0:0.0:0.0:1.0	.	1908	Q9Y623	MYH4_HUMAN	G	1908	ENSP00000255381:E1908G	ENSP00000255381:E1908G	E	-	2	0	MYH4	10287514	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.825000	0.86693	2.311000	0.77944	0.533000	0.62120	GAG	-	pfam_Myosin_tail		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	T	NM_017533	-		10346789	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10346789	T	C	10346789	3	2	26	1	0	0	0	0	1	0	0	0	10039	1551	54	5	100	5	MYH4	17	10346789	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	2986786	10346789	70848421	97	1902											
UBB	7314	genome.wustl.edu	37	chr17	16285594	16285594	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcatctttgcaggcaagCagctggaagatggccgcact	13	11	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:16285594C>T	ENST00000395837.1	+	2	554	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	UBB_ENST00000302182.3_Nonsense_Mutation_p.Q125*|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Nonsense_Mutation_p.Q125*|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	125	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TGCAGGCAAGCAGCTGGAAGA	0.542																																					Melanoma(163;1126 3406 34901)												0								ENSG00000170315						87	87	87					17																	16285594		2203	4300	6503	UBB	SO:0001587	stop_gained	0			-	HGNC		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.373C>T	17.37:g.16285594C>T	ENSP00000379178:p.Gln125*	Somatic	0	63	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	101	26.62	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Nonsense_Mutation	SNP	31	0	0	50	32.89	25	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup	p.Q125*	ENST00000395837.1	37	c.373	CCDS11177.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.365626	0.98238	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	.	.	.	4.13	4.13	0.48395	.	0.000000	0.50627	U	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8221	0.78662	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000304697:Q125X	Q	+	1	0	UBB	16226319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.043000	0.60533	0.644000	0.83932	CAG	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup		0.542	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	UBB	protein_coding	OTTHUMT00000130459.1	C	NM_018955	-		16285594	1	no_errors	ENST00000302182	ensembl	human	novel	74_37	nonsense	SNP	1.000	T	T	16285594	C	T	16285594	4	4	26	1	0	0	0	0	0	1	0	0	16848	711	25	2	375	2	UBB	17	16285594	Nonsense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	5938805	16285594	64909616	98	1903											
FBXW10	10517	genome.wustl.edu	37	chr17	18653126	18653126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagccagggtacgatccCtgcaatctattggttgacct	9	12	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:18653126C>T	ENST00000395665.4	+	3	983	c.762C>T	c.(760-762)ccC>ccT	p.P254P	FBXW10_ENST00000301938.4_Silent_p.P254P|FBXW10_ENST00000395667.1_Silent_p.P254P|FBXW10_ENST00000308799.4_Silent_p.P254P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	254										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTACGATCCCTGCAATCTAT	0.478																																																	0								ENSG00000171931						171	133	146					17																	18653126		2203	4300	6503	FBXW10	SO:0001819	synonymous_variant	0			-	HGNC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.762C>T	17.37:g.18653126C>T		Somatic	0	68	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	92	17.86	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	32	0	0	44	18.52	10	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P254	ENST00000395665.4	37	c.762	CCDS11199.3	17																																																																																			-	NULL		0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	protein_coding	OTTHUMT00000313531.2	C	NM_031456	-		18653126	1	no_errors	ENST00000308799	ensembl	human	known	74_37	silent	SNP	0.010	T	T	18653126	C	T	18653126	2	4	26	1	0	0	0	0	0	0	0	1	5765	668	24	2		2	FBXW10	17	18653126	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	2367532	18653126	62542084	99	1904											
SYNRG	11276	genome.wustl.edu	37	chr17	35902452	35902452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttactttggagagagatgTcatggtgatgttttcagaac	12	5	2	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:35902452T>C	ENST00000339208.6	-	15	2964	c.2824A>G	c.(2824-2826)Aca>Gca	p.T942A	SYNRG_ENST00000502449.2_Missense_Mutation_p.T819A|SYNRG_ENST00000585472.1_Missense_Mutation_p.T863A|SYNRG_ENST00000346661.4_Missense_Mutation_p.T942A|SYNRG_ENST00000394378.2_Missense_Mutation_p.T864A|SYNRG_ENST00000591288.1_Missense_Mutation_p.T736A|SYNRG_ENST00000345615.4_Missense_Mutation_p.T864A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	942					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGAGAGATGTCATGGTGATG	0.463																																																	0								ENSG00000006114						121	119	120					17																	35902452		2203	4300	6503	SYNRG	SO:0001583	missense	0			-	HGNC	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2824A>G	17.37:g.35902452T>C	ENSP00000343610:p.Thr942Ala	Somatic	0	69	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	76	16.48	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	24	0	0	30	26.83	11	smart_EPS15_homology,pfscan_EPS15_homology	p.T942A	ENST00000339208.6	37	c.2824	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	T	8.573	0.880606	0.17467	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.45668	1.48;0.89	6.17	-0.578	0.11724	.	0.545864	0.20990	N	0.082050	T	0.17874	0.0429	N	0.19112	0.55	0.34930	D	0.749279	B;B;B;B;B;B	0.13594	0.008;0.007;0.007;0.007;0.003;0.003	B;B;B;B;B;B	0.15484	0.01;0.013;0.013;0.013;0.008;0.008	T	0.19128	-1.0315	10	0.09843	T	0.71	-1.0814	1.8714	0.03209	0.1318:0.3183:0.1292:0.4207	.	736;864;864;864;942;942	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	A	942;736;942;864;864	ENSP00000005279:T942A;ENSP00000377903:T864A	ENSP00000343610:T736A	T	-	1	0	SYNRG	32976565	0.999000	0.42202	0.790000	0.31976	0.656000	0.38851	0.326000	0.19646	-0.394000	0.07727	0.533000	0.62120	ACA	-	NULL		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	protein_coding	OTTHUMT00000256811.2	T	NM_007247	-		35902452	-1	no_errors	ENST00000339208	ensembl	human	known	74_37	missense	SNP	0.945	C	C	35902452	T	C	35902452	3	2	26	1	0	0	0	0	1	0	0	0	15467	1667	58	5	1225	5	SYNRG	17	35902452	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	17249326	35902452	45292758	100	1905											
TUBG1	7283	genome.wustl.edu	37	chr17	40764110	40764110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggagaaaagatccatgaGgacatttttgacatcataga	10	6	1	5			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:40764110G>C	ENST00000251413.3	+	4	410	c.348G>C	c.(346-348)gaG>gaC	p.E116D	FAM134C_ENST00000585894.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000543197.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	116					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	AGATCCATGAGGACATTTTTG	0.522																																					Colon(20;114 698 11420 22864)												0								ENSG00000131462						103	92	95					17																	40764110		2203	4300	6503	TUBG1	SO:0001583	missense	0			-	HGNC	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.348G>C	17.37:g.40764110G>C	ENSP00000251413:p.Glu116Asp	Somatic	0	59	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q53X79|Q9BW59	Missense_Mutation	SNP	38	0	0	42	14.00	7	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.E116D	ENST00000251413.3	37	c.348	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090485	0.07053	.	.	ENSG00000131462	ENST00000251413	T	0.69561	-0.41	5.37	-0.877	0.10621	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000001	T	0.43875	0.1267	N	0.12920	0.275	0.58432	D	0.999993	B	0.13145	0.007	B	0.13407	0.009	T	0.12941	-1.0528	10	0.40728	T	0.16	-11.1095	9.7249	0.40326	0.6134:0.0:0.3866:0.0	.	116	P23258	TBG1_HUMAN	D	116	ENSP00000251413:E116D	ENSP00000251413:E116D	E	+	3	2	TUBG1	38017636	1.000000	0.71417	0.977000	0.42913	0.064000	0.16182	1.362000	0.34148	-0.004000	0.14419	-0.373000	0.07131	GAG	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Gamma_tubulin,prints_Tubulin,prints_Beta_tubulin		0.522	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	protein_coding	OTTHUMT00000450548.1	G	NM_001070	-		40764110	1	no_errors	ENST00000251413	ensembl	human	known	74_37	missense	SNP	0.993	C	C	40764110	G	C	40764110	3	2	26	1	0	0	0	0	1	0	0	0	16771	991	35	4	362	4	TUBG1	17	40764110	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	4861658	40764110	40431100	101	1906											
HIGD1B	51751	genome.wustl.edu	37	chr17	42926715	42926715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacacctgattcacacccGagtggcagcgcaggcctgtg	11	14	1	1	rs142682593		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:42926715G>A	ENST00000253410.2	+	2	445	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	HIGD1B_ENST00000587021.1_Intron|HIGD1B_ENST00000591513.1_Missense_Mutation_p.R65Q	NM_016438.2	NP_057522.1	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B	65	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Prostate(33;0.109)				ATTCACACCCGAGTGGCAGCG	0.547																																																	0								ENSG00000131097						95	85	88					17																	42926715		2203	4300	6503	HIGD1B	SO:0001583	missense	0			-	HGNC	AB038021	CCDS11488.1	17q21.31	2009-03-17	2009-03-17			ENSG00000131097			24318	protein-coding gene	gene with protein product			"HIG1 domain family, member 1B"			12477932	Standard	NM_016438		Approved	CLST11240, CLST11240-15	uc031rau.1	Q9P298		ENST00000253410.2:c.194G>A	17.37:g.42926715G>A	ENSP00000253410:p.Arg65Gln	Somatic	0	60	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	68	19.05	D3DX57|Q9P297	Missense_Mutation	SNP	30	0	0	25	30.56	11	pfam_Hypoxia_induced_domain	p.R65Q	ENST00000253410.2	37	c.194	CCDS11488.1	17	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611673	0.87258	.	.	ENSG00000131097	ENST00000253410	T	0.62232	0.04	5.25	5.25	0.73442	Hypoxia induced protein, domain (2);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82965	-0.0195	9	0.87932	D	0	-50.1571	17.7713	0.88493	0.0:0.0:1.0:0.0	.	65	Q9P298	HIG1B_HUMAN	Q	65	ENSP00000253410:R65Q	ENSP00000253410:R65Q	R	+	2	0	HIGD1B	40282241	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	6.875000	0.75551	2.744000	0.94065	0.561000	0.74099	CGA	-	pfam_Hypoxia_induced_domain		0.547	HIGD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIGD1B	protein_coding	OTTHUMT00000448669.1	G	NM_016438	-		42926715	1	no_errors	ENST00000253410	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42926715	G	A	42926715	3	1	26	1	0	0	0	0	1	0	0	0	7109	1058	37	1	200	1	HIGD1B	17	42926715	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	2162605	42926715	38268495	102	1907											
TBX21	30009	genome.wustl.edu	37	chr17	45821866	45821866	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agattactcagctgaaaattGataataacccctttgccaaa	5	9	1	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:45821866G>T	ENST00000177694.1	+	5	1157	c.946G>T	c.(946-948)Gat>Tat	p.D316Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	316					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGAAAATTGATAATAACCC	0.493																																																	0								ENSG00000073861						71	78	76					17																	45821866		2203	4300	6503	TBX21	SO:0001583	missense	0			-	HGNC	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.946G>T	17.37:g.45821866G>T	ENSP00000177694:p.Asp316Tyr	Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26		Missense_Mutation	SNP	25	0	0	36	20.00	9	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D316Y	ENST00000177694.1	37	c.946	CCDS11514.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406619	0.83230	.	.	ENSG00000073861	ENST00000177694	D	0.89196	-2.48	5.11	5.11	0.69529	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.92412	3.305	0.80722	D	1	P	0.52577	0.954	P	0.60012	0.867	D	0.96388	0.9287	10	0.87932	D	0	.	17.3	0.87180	0.0:0.0:1.0:0.0	.	316	Q9UL17	TBX21_HUMAN	Y	316	ENSP00000177694:D316Y	ENSP00000177694:D316Y	D	+	1	0	TBX21	43176865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.368000	0.97152	2.362000	0.80069	0.563000	0.77884	GAT	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.493	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX21	protein_coding	OTTHUMT00000441365.1	G	NM_013351	-		45821866	1	no_errors	ENST00000177694	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45821866	G	T	45821866	3	4	26	1	0	0	0	0	1	0	0	0	15664	1290	45	3	964	3	TBX21	17	45821866	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	2895151	45821866	35373344	103	1908											
HOXB1	3211	genome.wustl.edu	37	chr17	46607840	46607840	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgctcgttcccataagGgggatgctgcggaggatatg	16	8	1	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:46607840G>C	ENST00000239174.6	-	1	519	c.427C>G	c.(427-429)Cct>Gct	p.P143A	HOXB1_ENST00000577092.1_Missense_Mutation_p.P143A	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	143					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCCCATAAGGGGGATGCTGC	0.617																																																	0								ENSG00000120094						59	62	61					17																	46607840		2203	4300	6503	HOXB1	SO:0001583	missense	0			-	HGNC		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.427C>G	17.37:g.46607840G>C	ENSP00000355140:p.Pro143Ala	Somatic	0	76	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	70	37.39	Q4VB03	Missense_Mutation	SNP	15	0	0	23	48.89	22	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P143A	ENST00000239174.6	37	c.427	CCDS32675.1	17	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724549	0.15439	.	.	ENSG00000120094	ENST00000239174	D	0.90133	-2.62	4.71	-1.44	0.08856	.	0.640806	0.13865	N	0.357396	T	0.78547	0.4300	L	0.28400	0.85	0.09310	N	0.999991	B	0.14012	0.009	B	0.11329	0.006	T	0.61078	-0.7135	10	0.09843	T	0.71	.	3.8462	0.08936	0.2206:0.1072:0.5516:0.1206	.	143	P14653	HXB1_HUMAN	A	143	ENSP00000355140:P143A	ENSP00000355140:P143A	P	-	1	0	HOXB1	43962839	1.000000	0.71417	0.233000	0.24025	0.081000	0.17604	2.192000	0.42649	-0.022000	0.13986	-0.175000	0.13238	CCT	-	NULL		0.617	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB1	protein_coding	OTTHUMT00000358383.3	G		-		46607840	-1	no_errors	ENST00000239174	ensembl	human	known	74_37	missense	SNP	0.043	C	C	46607840	G	C	46607840	3	2	26	1	0	0	0	0	1	0	0	0	7301	1232	43	4	486	4	HOXB1	17	46607840	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	785974	46607840	34587370	104	1909											
MTMR4	9110	genome.wustl.edu	37	chr17	56573691	56573691	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatctggttttaggtaaTctggaaagacaaatataaca	9	4	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:56573691T>C	ENST00000323456.5	-	16	1936	c.1812A>G	c.(1810-1812)agA>agG	p.R604R	MTMR4_ENST00000579925.1_Splice_Site_p.R547R	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	604					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTAGGTAATCTGGAAAGAC	0.438																																																	0								ENSG00000108389						35	34	35					17																	56573691		2203	4300	6503	MTMR4	SO:0001630	splice_region_variant	0			-	HGNC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1812-1A>G	17.37:g.56573691T>C		Somatic	0	30	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	33	0	0	53	19.70	13	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.R604	ENST00000323456.5	37	c.1812	CCDS11608.1	17																																																																																			-	NULL		0.438	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	protein_coding	OTTHUMT00000444721.1	T	NM_004687	-	Silent	56573691	-1	no_errors	ENST00000323456	ensembl	human	known	74_37	silent	SNP	0.998	C	C	56573691	T	C	56573691	5	2	26	1	0	0	0	0	0	0	1	0	9948	1449	50	5	1791	5	MTMR4	17	56573691	Splice_Site	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	9965851	56573691	24621519	105	1910											
TBX2	6909	genome.wustl.edu	37	chr17	59477918	59477918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctaggcacggagatggtcatCaccaagtccgggaggtaggg	16	9	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:59477918C>T	ENST00000240328.3	+	1	662	c.381C>T	c.(379-381)atC>atT	p.I127I	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	127					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						AGATGGTCATCACCAAGTCCG	0.701																																					GBM(3;187 253 11467 14965 23079)												0								ENSG00000121068						12	11	11					17																	59477918		2155	4236	6391	TBX2	SO:0001819	synonymous_variant	0			-	HGNC	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.381C>T	17.37:g.59477918C>T		Somatic	0	28	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	76	10.59	Q16424|Q7Z647	Silent	SNP	26	0	0	70	7.89	6	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,pfscan_TF_T-box	p.I127	ENST00000240328.3	37	c.381	CCDS11627.2	17																																																																																			-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,pfscan_TF_T-box		0.701	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	protein_coding	OTTHUMT00000346977.2	C	NM_005994	-		59477918	1	no_errors	ENST00000419047	ensembl	human	known	74_37	silent	SNP	0.999	T	T	59477918	C	T	59477918	2	4	26	1	0	0	0	0	0	0	0	1	15662	816	29	2		2	TBX2	17	59477918	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	2904227	59477918	21717292	106	1911											
SCN4A	6329	genome.wustl.edu	37	chr17	62025311	62025311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacaccttaaagccgtagGccacccatttgagcagcatc	8	13	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:62025311G>A	ENST00000435607.1	-	17	3333	c.3257C>T	c.(3256-3258)gCc>gTc	p.A1086V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1086V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1086					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGCCGTAGGCCACCCATTT	0.542																																																	0								ENSG00000007314						88	94	92					17																	62025311		2187	4299	6486	SCN4A	SO:0001583	missense	0			-	HGNC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3257C>T	17.37:g.62025311G>A	ENSP00000396320:p.Ala1086Val	Somatic	0	78	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	89	13.59	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	35	0	0	54	14.29	9	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.A1086V	ENST00000435607.1	37	c.3257	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048970	0.93740	.	.	ENSG00000007314	ENST00000435607	D	0.99014	-5.33	4.47	4.47	0.54385	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.87900	2.915	0.58432	D	0.999993	D	0.76494	0.999	D	0.68353	0.957	D	0.98886	1.0771	10	0.87932	D	0	.	16.6601	0.85238	0.0:0.0:1.0:0.0	.	1086	P35499	SCN4A_HUMAN	V	1086	ENSP00000396320:A1086V	ENSP00000396320:A1086V	A	-	2	0	SCN4A	59379043	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.522000	0.98032	2.502000	0.84385	0.462000	0.41574	GCC	-	pfam_Ion_trans_dom		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		G	NM_000334	-		62025311	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62025311	G	A	62025311	3	1	26	1	0	0	0	0	1	0	0	0	13928	1203	42	2	2285	2	SCN4A	17	62025311	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	2547393	62025311	19169899	107	1912											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892261	62892261	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtcggagaagattcgaccTccctagaagactcagaaggc	13	10	1	5			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:62892261T>A	ENST00000584306.1	-	3	1645	c.1115A>T	c.(1114-1116)gAg>gTg	p.E372V	LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E372V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	372						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATTCGACCTCCCTAGAAGA	0.522																																																	0								ENSG00000176809						25	32	30					17																	62892261		1985	4100	6085	LRRC37A3	SO:0001583	missense	0			-	HGNC	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1115A>T	17.37:g.62892261T>A	ENSP00000464535:p.Glu372Val	Somatic	1	198	0.5		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	240	10.45	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	44	0	0	60	11.76	8	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E372V	ENST00000584306.1	37	c.1115	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	9.986	1.229489	0.22542	.	.	ENSG00000176809	ENST00000319651	T	0.68624	-0.34	2.59	-2.07	0.07276	.	.	.	.	.	T	0.56366	0.1980	M	0.69823	2.125	0.09310	N	1	B	0.33266	0.404	B	0.32533	0.147	T	0.55496	-0.8132	9	0.87932	D	0	.	0.2861	0.00251	0.2236:0.1522:0.2277:0.3964	.	372	O60309	L37A3_HUMAN	V	372	ENSP00000325713:E372V	ENSP00000325713:E372V	E	-	2	0	LRRC37A3	60322723	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.005000	0.13129	-0.162000	0.10964	0.234000	0.17832	GAG	-	NULL		0.522	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	protein_coding	OTTHUMT00000445377.1	T	NM_199340	-		62892261	-1	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	SNP	0.000	A	A	62892261	T	A	62892261	3	1	26	1	0	0	0	0	1	0	0	0	8995	1551	54	5	3837	5	LRRC37A3	17	62892261	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	866950	62892261	18302949	108	1913											
GPRC5C	55890	genome.wustl.edu	37	chr17	72435889	72435889	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccttctgtctctagggaccCaaccagagcctggcctggga	11	14	2	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:72435889C>G	ENST00000481232.1	+	2	620	c.109C>G	c.(109-111)Caa>Gaa	p.Q37E	GPRC5C_ENST00000392629.2_Missense_Mutation_p.Q4E|GPRC5C_ENST00000392627.1_Missense_Mutation_p.Q37E|GPRC5C_ENST00000342648.5_Intron			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	0					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCTAGGGACCCAACCAGAGCC	0.567																																																	0								ENSG00000170412						48	50	50					17																	72435889		2203	4300	6503	GPRC5C	SO:0001583	missense	0			-	HGNC	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.109C>G	17.37:g.72435889C>G	ENSP00000462147:p.Gln37Glu	Somatic	0	66	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	95	15.18	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	32	0	0	62	10.14	7	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.Q37E	ENST00000481232.1	37	c.109		17	.	.	.	.	.	.	.	.	.	.	C	2.612	-0.290605	0.05568	.	.	ENSG00000170412	ENST00000342648;ENST00000392629	T	0.16597	2.33	5.53	5.53	0.82687	.	1.182760	0.06085	N	0.662621	T	0.18215	0.0437	.	.	.	0.25593	N	0.986672	B	0.15473	0.013	B	0.19391	0.025	T	0.25012	-1.0144	9	0.33940	T	0.23	-5.4998	16.1722	0.81825	0.0:1.0:0.0:0.0	.	4	Q9NQ84-2	.	E	37;4	ENSP00000376405:Q4E	ENSP00000340595:Q37E	Q	+	1	0	GPRC5C	69947484	0.476000	0.25901	0.831000	0.32960	0.008000	0.06430	2.346000	0.44027	2.595000	0.87683	0.655000	0.94253	CAA	-	NULL		0.567	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	protein_coding	OTTHUMT00000145095.2	C		-		72435889	1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	SNP	0.976	G	G	72435889	C	G	72435889	3	3	26	1	0	0	0	0	1	0	0	0	6728	595	21	4	123	4	GPRC5C	17	72435889	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	9543628	72435889	8759321	109	1914											
GPRC5C	55890	genome.wustl.edu	37	chr17	72436058	72436058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtgaccgctctggggCgtggggcatcgtcctggagg	18	11	1	1	rs372728157		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:72436058C>T	ENST00000481232.1	+	2	789	c.278C>T	c.(277-279)gCg>gTg	p.A93V	GPRC5C_ENST00000392629.2_Missense_Mutation_p.A60V|GPRC5C_ENST00000392627.1_Missense_Mutation_p.A93V|GPRC5C_ENST00000342648.5_Intron			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	48					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CGCTCTGGGGCGTGGGGCATC	0.662																																																	0								ENSG00000170412	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	61	58	59		179,278	4.6	0.9	17		59	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	64,64	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	60/454,93/487	72436058	2,13002	2203	4299	6502	GPRC5C	SO:0001583	missense	0			-	HGNC	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.278C>T	17.37:g.72436058C>T	ENSP00000462147:p.Ala93Val	Somatic	0	28	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	33	0	0	49	15.25	9	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A93V	ENST00000481232.1	37	c.278		17	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592891	0.28357	0.0	2.33E-4	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	T	0.18657	2.2	5.55	4.59	0.56863	.	0.107189	0.64402	N	0.000007	T	0.19005	0.0456	L	0.45581	1.43	0.47441	D	0.999428	B;B;B;B	0.21821	0.023;0.06;0.039;0.061	B;B;B;B	0.19946	0.01;0.027;0.023;0.019	T	0.03503	-1.1030	10	0.30854	T	0.27	-4.2378	10.8788	0.46927	0.0:0.798:0.1296:0.0724	.	48;48;60;48	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	V	48;93;60;48	ENSP00000376405:A60V	ENSP00000340595:A93V	A	+	2	0	GPRC5C	69947653	0.027000	0.19231	0.927000	0.36925	0.733000	0.41908	0.383000	0.20651	1.348000	0.45733	0.561000	0.74099	GCG	-	NULL		0.662	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	protein_coding	OTTHUMT00000145095.2	C		-		72436058	1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	SNP	0.941	T	T	72436058	C	T	72436058	3	4	26	1	0	0	0	0	1	0	0	0	6728	768	27	1	292	1	GPRC5C	17	72436058	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	169	72436058	8759152	110	1915											
DPP9	91039	genome.wustl.edu	37	chr19	4694694	4694694	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttccccggggctgaagggctCactccaatcgtagccctggg	13	14	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:4694694C>G	ENST00000598800.1	-	14	1913	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	DPP9_ENST00000597849.1_Missense_Mutation_p.E499Q|DPP9_ENST00000594671.1_Missense_Mutation_p.E470Q|DPP9_ENST00000262960.9_Missense_Mutation_p.E499Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	470						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTGAAGGGCTCACTCCAATCG	0.537																																																	0								ENSG00000142002						28	32	31					19																	4694694		2012	4166	6178	DPP9	SO:0001583	missense	0			-	HGNC	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1408G>C	19.37:g.4694694C>G	ENSP00000469603:p.Glu470Gln	Somatic	0	53	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	80	10.11	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	37	0	0	75	10.71	9	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.E499Q	ENST00000598800.1	37	c.1495		19	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016786	0.19355	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30182	1.54	3.76	-0.112	0.13572	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.564499	0.18906	N	0.127895	T	0.10981	0.0268	N	0.02225	-0.63	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.31110	-0.9955	10	0.07482	T	0.82	-11.8663	14.2408	0.65956	0.0:0.2691:0.7309:0.0	.	470;499	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	Q	578;440;499	ENSP00000262960:E499Q	ENSP00000262960:E499Q	E	-	1	0	DPP9	4645694	0.229000	0.23729	0.364000	0.25888	0.934000	0.57294	0.423000	0.21313	0.268000	0.21939	0.561000	0.74099	GAG	-	pfam_Peptidase_S9B		0.537	DPP9-026	NOVEL	basic	protein_coding	DPP9	protein_coding	OTTHUMT00000459343.2	C		-		4694694	-1	no_errors	ENST00000262960	ensembl	human	known	74_37	missense	SNP	0.123	G	G	4694694	C	G	4694694	3	3	26	1	0	0	0	0	1	0	0	0	4735	835	29	4	1223	4	DPP9	19	4694694	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09		4694694	54434289	111	1916											
PNPLA6	10908	genome.wustl.edu	37	chr19	7619446	7619446	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccaccctagcatccAagagttccggctgtcagggt	9	16	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:7619446A>C	ENST00000221249.6	+	24	2788	c.2357A>C	c.(2356-2358)cAa>cCa	p.Q786P	PNPLA6_ENST00000545201.2_Missense_Mutation_p.Q759P|PNPLA6_ENST00000600737.1_Missense_Mutation_p.Q824P|PNPLA6_ENST00000450331.3_Missense_Mutation_p.Q786P|PNPLA6_ENST00000414982.3_Missense_Mutation_p.Q834P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	825					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAGCATCCAAGAGTTCCGG	0.642																																																	0								ENSG00000032444						55	45	48					19																	7619446		2203	4300	6503	PNPLA6	SO:0001583	missense	0			-	HGNC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2357A>C	19.37:g.7619446A>C	ENSP00000221249:p.Gln786Pro	Somatic	0	50	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	76	16.48	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	30	0	0	27	15.62	5	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q834P	ENST00000221249.6	37	c.2501	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	a	11.88	1.769620	0.31320	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.66	3.64	0.41730	.	0.185328	0.47852	D	0.000213	T	0.20536	0.0494	L	0.40543	1.245	0.39297	D	0.964843	B;B;B;B	0.09022	0.0;0.001;0.0;0.002	B;B;B;B	0.10450	0.0;0.005;0.001;0.005	T	0.06075	-1.0847	10	0.59425	D	0.04	.	8.6856	0.34236	0.9079:0.0:0.0921:0.0	.	825;759;824;786	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	P	786;759;834;786	ENSP00000221249:Q786P;ENSP00000443323:Q759P;ENSP00000407509:Q834P;ENSP00000394348:Q786P	ENSP00000221249:Q786P	Q	+	2	0	PNPLA6	7525446	1.000000	0.71417	0.989000	0.46669	0.281000	0.26958	7.250000	0.78287	0.922000	0.37019	0.374000	0.22700	CAA	-	NULL		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	protein_coding	OTTHUMT00000459275.1	A	NM_006702	-		7619446	1	no_errors	ENST00000414982	ensembl	human	known	74_37	missense	SNP	0.997	C	C	7619446	A	C	7619446	3	2	26	1	0	0	0	0	1	0	0	0	12171	130	5	5	2587	5	PNPLA6	19	7619446	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	2924752	7619446	51509537	112	1917											
CLEC4M	10332	genome.wustl.edu	37	chr19	7828315	7828315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcatcagactttttcCaagagactttcaattccagc	7	11	2	2	rs35064548	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:7828315C>A	ENST00000327325.5	+	2	201	c.83C>A	c.(82-84)cCa>cAa	p.P28Q	CLEC4M_ENST00000359059.5_Missense_Mutation_p.P28Q|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P28Q|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P28Q|CLEC4M_ENST00000357361.2_Missense_Mutation_p.P28Q|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P28Q|CLEC4M_ENST00000597522.1_Missense_Mutation_p.P28Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	28					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGACTTTTTCCAAGAGACTTT	0.512																																																	0								ENSG00000104938						110	108	109					19																	7828315		2203	4300	6503	CLEC4M	SO:0001583	missense	0			-	HGNC	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.83C>A	19.37:g.7828315C>A	ENSP00000316228:p.Pro28Gln	Somatic	0	17	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	32	0	0	48	15.79	9	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P28Q	ENST00000327325.5	37	c.83	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310074	0.23821	.	.	ENSG00000104938	ENST00000327325;ENST00000248228;ENST00000359059;ENST00000357361	T;T;T;T	0.05081	4.19;4.24;3.5;4.1	2.56	-5.12	0.02893	.	.	.	.	.	T	0.08403	0.0209	N	0.24115	0.695	0.09310	N	1	P;D;D;P;D;P	0.76494	0.689;0.982;0.99;0.565;0.999;0.928	B;P;D;B;D;P	0.74023	0.084;0.729;0.969;0.062;0.982;0.566	T	0.08932	-1.0698	9	0.51188	T	0.08	.	2.481	0.04587	0.1572:0.2008:0.4684:0.1736	.	28;28;28;28;28;28	Q9H2X3-5;B4DNV9;Q9H2X3;Q9H2X3-8;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.	Q	28	ENSP00000316228:P28Q;ENSP00000248228:P28Q;ENSP00000351954:P28Q;ENSP00000349924:P28Q	ENSP00000248228:P28Q	P	+	2	0	CLEC4M	7734315	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.236000	0.02925	-1.411000	0.02032	0.498000	0.49722	CCA	-	NULL		0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	protein_coding	OTTHUMT00000461161.1	C	NM_014257	-		7828315	1	no_errors	ENST00000327325	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7828315	C	A	7828315	3	1	26	1	0	0	0	0	1	0	0	0	3520	594	21	3	89	3	CLEC4M	19	7828315	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	208869	7828315	51300668	113	1918											
LPPR2	64748	genome.wustl.edu	37	chr19	11475026	11475026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcttctgaccaccagagtCgcagaactgcgcccgccgtg	12	15	1	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:11475026C>T	ENST00000251473.5	+	10	1379	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.S315L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCACCAGAGTCGCAGAACTGC	0.632																																																	0								ENSG00000105520						23	24	24					19																	11475026		2203	4300	6503	DKFZP761J1410	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000251473.5:c.1003C>T	19.37:g.11475026C>T	ENSP00000251473:p.Arg335Cys	Somatic	0	29	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77		Missense_Mutation	SNP	16	0	0	34	17.07	7	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S315L	ENST00000251473.5	37	c.944	CCDS12258.1	19	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993077	0.54041	.	.	ENSG00000105520	ENST00000251473	T	0.35236	1.32	5.35	4.1	0.47936	.	1.530920	0.03745	N	0.255561	T	0.27454	0.0674	N	0.14661	0.345	0.24162	N	0.995657	B	0.10296	0.003	B	0.04013	0.001	T	0.07966	-1.0745	10	0.66056	D	0.02	-0.2514	9.8104	0.40820	0.0:0.8912:0.0:0.1088	.	335	Q96GM1	LPPR2_HUMAN	C	335	ENSP00000251473:R335C	ENSP00000251473:R335C	R	+	1	0	AC024575.1	11336026	0.998000	0.40836	1.000000	0.80357	0.793000	0.44817	1.496000	0.35638	2.511000	0.84671	0.467000	0.42956	CGC	-	NULL		0.632	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	protein_coding	OTTHUMT00000458779.1	C		-		11475026	1	no_errors	ENST00000591608	ensembl	human	known	74_37	missense	SNP	0.999	T	T	11475026	C	T	11475026	3	4	26	1	0	0	0	0	1	0	0	0	8927	893	31	1	1049	1	LPPR2	19	11475026	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	3646711	11475026	47653957	114	1919											
TRMT1	55621	genome.wustl.edu	37	chr19	13218410	13218410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccacactgagaatgcGgaacgctgggctagtctctg	14	11	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:13218410G>A	ENST00000592062.1	-	15	2131	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	TRMT1_ENST00000437766.1_Missense_Mutation_p.R521C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R492C|TRMT1_ENST00000357720.4_Missense_Mutation_p.R521C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	521							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTGAGAATGCGGAACGCTGGG	0.587																																																	0								ENSG00000104907						60	37	45					19																	13218410		2203	4299	6502	TRMT1	SO:0001583	missense	0			-	HGNC	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1561C>T	19.37:g.13218410G>A	ENSP00000466967:p.Arg521Cys	Somatic	0	48	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	64	12.16	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	35	0	0	58	14.71	10	pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.R521C	ENST00000592062.1	37	c.1561	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113729	0.20795	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.08634	3.07;3.07;3.07	4.01	4.01	0.46588	.	0.207461	0.34932	N	0.003561	T	0.09642	0.0237	M	0.64997	1.995	0.48087	D	0.999581	P;B	0.34977	0.478;0.237	B;B	0.24269	0.052;0.023	T	0.09618	-1.0666	10	0.48119	T	0.1	-23.7847	13.6652	0.62391	0.0:0.0:1.0:0.0	.	492;521	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	C	521;521;492	ENSP00000350352:R521C;ENSP00000416149:R521C;ENSP00000221504:R492C	ENSP00000221504:R492C	R	-	1	0	TRMT1	13079410	1.000000	0.71417	0.997000	0.53966	0.254000	0.26022	6.063000	0.71162	2.086000	0.62901	0.462000	0.41574	CGC	-	NULL		0.587	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	protein_coding	OTTHUMT00000452780.2	G	NM_017722	-		13218410	-1	no_errors	ENST00000357720	ensembl	human	known	74_37	missense	SNP	1.000	A	A	13218410	G	A	13218410	3	1	26	1	0	0	0	0	1	0	0	0	16568	1116	39	1	434	1	TRMT1	19	13218410	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	1743384	13218410	45910573	115	1920											
UNC13A	23025	genome.wustl.edu	37	chr19	17768952	17768952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccaggggtggtgggCgaacagaatattggtggact	19	6	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:17768952C>T	ENST00000519716.2	-	9	685	c.686G>A	c.(685-687)cGc>cAc	p.R229H	UNC13A_ENST00000551649.1_Missense_Mutation_p.R229H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R317H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R229H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R229H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R229H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	229					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGTGGGCGAACAGAATA	0.572																																																	0								ENSG00000130477						107	111	110					19																	17768952		2061	4205	6266	UNC13A	SO:0001583	missense	0			-	HGNC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.686G>A	19.37:g.17768952C>T	ENSP00000429562:p.Arg229His	Somatic	0	87	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	95	24.00	E5RHY9	Missense_Mutation	SNP	34	0	0	42	12.50	6	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R317H	ENST00000519716.2	37	c.950	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524275	0.64747	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.81739	-1.51;-1.53;-1.51;-1.38;-1.38;-1.5	4.63	4.63	0.57726	.	0.307905	0.26334	U	0.024962	T	0.74038	0.3664	L	0.44542	1.39	0.37233	D	0.905785	B	0.12630	0.006	B	0.06405	0.002	T	0.72818	-0.4178	10	0.32370	T	0.25	-12.7878	14.9688	0.71217	0.0:1.0:0.0:0.0	.	229	Q9UPW8	UN13A_HUMAN	H	229;317;229;229;229;229	ENSP00000429562:R229H;ENSP00000400409:R317H;ENSP00000252773:R229H;ENSP00000447236:R229H;ENSP00000447572:R229H;ENSP00000446831:R229H	ENSP00000252773:R229H	R	-	2	0	UNC13A	17629952	0.951000	0.32395	0.984000	0.44739	0.807000	0.45602	5.646000	0.67916	2.141000	0.66446	0.484000	0.47621	CGC	-	NULL		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	protein_coding	OTTHUMT00000376169.2	C	XM_038604	-		17768952	-1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	SNP	0.981	T	T	17768952	C	T	17768952	3	4	26	1	0	0	0	0	1	0	0	0	16991	768	27	1	4561	1	UNC13A	19	17768952	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	4550542	17768952	41360031	116	1921											
RYR1	6261	genome.wustl.edu	37	chr19	38990310	38990310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgccaatgtggtggtgCggctgctcatccggaagcct	14	11	1	1	rs193922803		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:38990310C>T	ENST00000359596.3	+	44	7063	c.7063C>T	c.(7063-7065)Cgg>Tgg	p.R2355W	RYR1_ENST00000355481.4_Missense_Mutation_p.R2355W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2355W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2355	6 X approximate repeats.		R -> C (in MHS1). {ECO:0000269|PubMed:12123492}.		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)	TGTGGTGGTGCGGCTGCTCAT	0.667																																																	0			GRCh37	CM021676	RYR1	M		ENSG00000196218						43	37	39					19																	38990310		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.7063C>T	19.37:g.38990310C>T	ENSP00000352608:p.Arg2355Trp	Somatic	0	37	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	23	52.94	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	15	0	0	28	37.78	17	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R2355W	ENST00000359596.3	37	c.7063	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059410	0.55325	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96011	-3.88;-3.88;-3.88	3.99	3.99	0.46301	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000003	D	0.96574	0.8882	M	0.62723	1.935	0.40155	D	0.976997	D;D	0.89917	1.0;0.999	D;D	0.68483	0.958;0.934	D	0.97021	0.9743	10	0.87932	D	0	.	12.2169	0.54412	0.1708:0.8291:0.0:0.0	.	2355;2355	P21817-2;P21817	.;RYR1_HUMAN	W	2355	ENSP00000352608:R2355W;ENSP00000347667:R2355W;ENSP00000354254:R2355W	ENSP00000347667:R2355W	R	+	1	2	RYR1	43682150	0.981000	0.34729	1.000000	0.80357	0.952000	0.60782	1.240000	0.32731	2.045000	0.60652	0.297000	0.19635	CGG	-	pfam_Ca-rel_channel		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		rs193922803		38990310	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38990310	C	T	38990310	3	4	26	1	0	0	0	0	1	0	0	0	13776	759	27	1	7237	1	RYR1	19	38990310	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	21221358	38990310	20138673	117	1922											
IL28A	282616	genome.wustl.edu	37	chr19	39759837	39759837	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgccactcccgcctcTtccccaggacctgggacctg	11	18	1	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:39759837T>A	ENST00000331982.5	+	3	293	c.238T>A	c.(238-240)Ttc>Atc	p.F80I		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	80					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CTCCCGCCTCTTCCCCAGGAC	0.637																																																	0								ENSG00000183709						18	23	21					19																	39759837		2201	4299	6500	IFNL2	SO:0001583	missense	0			-	HGNC	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.238T>A	19.37:g.39759837T>A	ENSP00000333639:p.Phe80Ile	Somatic	0	41	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	56	16.42	Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	24	0	0	33	23.26	10	NULL	p.F80I	ENST00000331982.5	37	c.238	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	t	14.09	2.430528	0.43122	.	.	ENSG00000183709	ENST00000331982	T	0.34472	1.36	3.13	2.1	0.27182	.	0.094127	0.47093	D	0.000246	T	0.52419	0.1733	M	0.83223	2.63	0.31226	N	0.696837	D	0.71674	0.998	D	0.63192	0.912	T	0.55891	-0.8069	10	0.49607	T	0.09	-16.2082	5.0893	0.14700	0.0:0.144:0.0:0.856	.	80	Q8IZJ0	IL28A_HUMAN	I	80	ENSP00000333639:F80I	ENSP00000333639:F80I	F	+	1	0	IL28A	44451677	0.941000	0.31946	0.796000	0.32109	0.323000	0.28346	1.184000	0.32053	0.427000	0.26145	0.248000	0.18094	TTC	-	NULL		0.637	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	protein_coding	OTTHUMT00000463833.1	T	NM_172138	-		39759837	1	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	SNP	0.849	A	A	39759837	T	A	39759837	3	1	26	1	0	0	0	0	1	0	0	0	7684	1609	56	5	248	5	IL28A	19	39759837	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09	769527	39759837	19369146	118	1923											
BLVRB	645	genome.wustl.edu	37	chr19	40953796	40953796	+	Nonstop_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccagatggggacagagtgCtactggtactggtgggaggg	18	7	0	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:40953796C>G	ENST00000263368.4	-	5	772	c.621G>C	c.(619-621)taG>taC	p.*207Y	BLVRB_ENST00000595483.1_Nonstop_Mutation_p.*164Y	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	0					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GGACAGAGTGCTACTGGTACT	0.537																																																	0								ENSG00000090013						140	116	124					19																	40953796		2203	4300	6503	BLVRB	SO:0001578	stop_lost	0			-	HGNC	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"Short chain dehydrogenase/reductase superfamily / Atypical members"	1063	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 43U, member 1"	600941	"Flavin reductase"	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.621G>C	19.37:g.40953796C>G		Somatic	0	46	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	64	11.11	A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Nonstop_Mutation	SNP	37	0	0	36	25.00	12	pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	p.*207Y	ENST00000263368.4	37	c.621	CCDS33029.1	19	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257034	0.39896	.	.	ENSG00000090013	ENST00000263368	.	.	.	5.49	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9278	0.52829	0.0:0.9152:0.0:0.0848	.	.	.	.	Y	207	.	.	X	-	3	2	BLVRB	45645636	0.936000	0.31750	0.941000	0.38009	0.505000	0.33919	2.605000	0.46283	1.320000	0.45209	0.462000	0.41574	TAG	-	NULL		0.537	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLVRB	protein_coding	OTTHUMT00000462563.1	C		-		40953796	-1	no_errors	ENST00000263368	ensembl	human	known	74_37	nonstop	SNP	0.967	G	G	40953796	C	G	40953796	4	3	26	1	0	0	0	0	0	0	0	0	1452	808	28	4	3	4	BLVRB	19	40953796	Nonstop_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	1193959	40953796	18175187	119	1924											
MYH14	79784	genome.wustl.edu	37	chr19	50792733	50792733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgggtagcagaacaggCagccaatgatctgcgagcac	13	12	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:50792733C>A	ENST00000596571.1	+	32	4670	c.4670C>A	c.(4669-4671)gCa>gAa	p.A1557E	MYH14_ENST00000425460.1_Missense_Mutation_p.A1565E|MYH14_ENST00000601313.1_Missense_Mutation_p.A1598E|MYH14_ENST00000598205.1_Missense_Mutation_p.A1565E|MYH14_ENST00000376970.2_Missense_Mutation_p.A1590E|MYH14_ENST00000440075.2_Missense_Mutation_p.A1598E|MYH14_ENST00000262269.8_Missense_Mutation_p.A1598E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1557					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)			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)		GCAGAACAGGCAGCCAATGAT	0.607																																																	0								ENSG00000105357						34	39	37					19																	50792733		2178	4280	6458	MYH14	SO:0001583	missense	0			-	HGNC	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.4670C>A	19.37:g.50792733C>A	ENSP00000472819:p.Ala1557Glu	Somatic	0	50	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	25	0	0	32	31.91	15	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1598E	ENST00000596571.1	37	c.4793	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	7.998	0.754853	0.15846	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.25	3.21	0.36854	Myosin tail (1);	.	.	.	.	T	0.22244	0.0536	N	0.00210	-1.845	0.23632	N	0.997249	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.15870	0.008;0.014;0.008	T	0.39187	-0.9626	9	0.02654	T	1	.	5.1034	0.14772	0.2063:0.6859:0.0:0.1078	.	1598;1557;1565	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	E	1598;1590;1565;1341;1598	ENSP00000406273:A1598E;ENSP00000366169:A1590E;ENSP00000407879:A1565E;ENSP00000262269:A1598E	ENSP00000262269:A1598E	A	+	2	0	MYH14	55484545	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	2.905000	0.48727	1.142000	0.42291	0.491000	0.48974	GCA	-	pfam_Myosin_tail,superfamily_Prefoldin		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729	-		50792733	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50792733	C	A	50792733	3	1	26	1	0	0	0	0	1	0	0	0	10035	710	25	3	4927	3	MYH14	19	50792733	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	9838937	50792733	8336250	120	1925											
SHANK1	50944	genome.wustl.edu	37	chr19	51219979	51219979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgctgaagtgggcgtcGtctgggacggacattgagcg	16	8	2	2	rs545121253		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000391814.1_Silent_p.D66D|SHANK1_ENST00000359082.3_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					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.D66D(2)		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)		AGTGGGCGTCGTCTGGGACGG	0.672																																																	2	Substitution - coding silent(2)	prostate(1)|kidney(1)						ENSG00000161681						81	68	72					19																	51219979		2203	4300	6503	SHANK1	SO:0001819	synonymous_variant	0			-	HGNC	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.198C>T	19.37:g.51219979G>A		Somatic	0	43	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	27	0	0	36	23.40	11	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D66	ENST00000293441.1	37	c.198	CCDS12799.1	19																																																																																			-	NULL		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	G	NM_016148	-		51219979	-1	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	SNP	1.000	A	A	51219979	G	A	51219979	2	1	26	1	0	0	0	0	0	0	0	1	14272	1136	40	1		1	SHANK1	19	51219979	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	427246	51219979	7909004	121	1926											
NLRP4	147945	genome.wustl.edu	37	chr19	56369480	56369480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagctgcagggcggcttgAacgaacccgattcggatctg	14	10	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:56369480A>C	ENST00000301295.6	+	3	1143	c.721A>C	c.(721-723)Aac>Cac	p.N241H	NLRP4_ENST00000587891.1_Missense_Mutation_p.N166H|NLRP4_ENST00000346986.5_Missense_Mutation_p.N241H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	241	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGCGGCTTGAACGAACCCGA	0.567																																																	0								ENSG00000160505						81	83	82					19																	56369480		2203	4300	6503	NLRP4	SO:0001583	missense	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.721A>C	19.37:g.56369480A>C	ENSP00000301295:p.Asn241His	Somatic	0	66	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	106	15.87	Q86W87|Q96AY6	Missense_Mutation	SNP	35	0	0	50	16.67	10	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N241H	ENST00000301295.6	37	c.721	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756834	0.49362	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	3.95	-4.24	0.03777	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.65964	0.2742	N	0.14661	0.345	0.09310	N	1	P;D;D	0.60575	0.575;0.985;0.988	B;P;P	0.58077	0.312;0.741;0.832	T	0.56763	-0.7925	9	0.38643	T	0.18	.	1.9779	0.03420	0.3715:0.1338:0.3563:0.1385	.	241;166;241	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	241	ENSP00000301295:N241H;ENSP00000344787:N241H	ENSP00000301295:N241H	N	+	1	0	NLRP4	61061292	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.536000	0.06135	-1.295000	0.02357	0.533000	0.62120	AAC	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.567	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	A	NM_134444	-		56369480	1	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	SNP	0.000	C	C	56369480	A	C	56369480	3	2	26	1	0	0	0	0	1	0	0	0	10481	246	9	5	727	5	NLRP4	19	56369480	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09	5149501	56369480	2759503	122	1927											
JPH2	57158	genome.wustl.edu	37	chr20	42788548	42788548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttgtcgttcttccactcGcccatgtaggtctcggtggt	11	12	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr20:42788548G>A	ENST00000372980.3	-	2	1751	c.879C>T	c.(877-879)ggC>ggT	p.G293G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	293					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCCACTCGCCCATGTAGG	0.692																																																	0								ENSG00000149596						57	51	53					20																	42788548		2203	4300	6503	JPH2	SO:0001819	synonymous_variant	0			-	HGNC	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.879C>T	20.37:g.42788548G>A		Somatic	0	40	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	51	22.73	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	17	0	0	25	13.79	4	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.G293	ENST00000372980.3	37	c.879	CCDS13325.1	20																																																																																			-	pfam_MORN,smart_MORN,pirsf_Junctophilin		0.692	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	protein_coding	OTTHUMT00000080307.1	G		-		42788548	-1	no_errors	ENST00000372980	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42788548	G	A	42788548	2	1	26	1	0	0	0	0	0	0	0	1	7963	1074	38	1		1	JPH2	20	42788548	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09		42788548	20236972	123	1928											
CDH26	60437	genome.wustl.edu	37	chr20	58571109	58571109	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatttgtggctctggcaGgtcagtggtctgtaggggtg	17	7	3	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr20:58571109G>A	ENST00000244047.5	+	12	2199	c.1888G>A	c.(1888-1890)Gtg>Atg	p.V630M	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Splice_Site_p.V630M			Q8IXH8	CAD26_HUMAN	cadherin 26	630					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(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGCTCTGGCAGGTCAGTGGTC	0.622																																																	0								ENSG00000124215						85	72	76					20																	58571109		2203	4300	6503	CDH26	SO:0001630	splice_region_variant	0			-	HGNC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1888+1G>A	20.37:g.58571109G>A		Somatic	0	76	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	106	13.11	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	31	0	0	60	7.69	5	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V630M	ENST00000244047.5	37	c.1888		20	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151644	0.38021	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61742	0.08;0.2	4.06	4.06	0.47325	.	0.643972	0.13764	N	0.364361	T	0.62563	0.2438	L	0.42245	1.32	0.33891	D	0.637349	D;D	0.60575	0.987;0.988	P;P	0.58391	0.735;0.838	T	0.70234	-0.4928	10	0.56958	D	0.05	.	9.5739	0.39445	0.0:0.0:0.7905:0.2094	.	630;630	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	M	630	ENSP00000244047:V630M;ENSP00000339390:V630M	ENSP00000244047:V630M	V	+	1	0	CDH26	58004504	1.000000	0.71417	0.818000	0.32626	0.307000	0.27823	1.940000	0.40223	1.979000	0.57680	0.655000	0.94253	GTG	-	NULL		0.622	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		G	NM_177980	-	Missense_Mutation	58571109	1	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	SNP	0.992	A	A	58571109	G	A	58571109	5	1	26	1	0	0	0	0	0	0	1	0	3112	1014	35	2	1934	2	CDH26	20	58571109	Splice_Site	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	15782561	58571109	4454411	124	1929											
UBASH3A	53347	genome.wustl.edu	37	chr21	43833596	43833596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgagcaatttaactAgagcctccttcgtgagccac	10	11	0	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr21:43833596A>G	ENST00000319294.6	+	5	662	c.631A>G	c.(631-633)Aga>Gga	p.R211G	UBASH3A_ENST00000291535.6_Intron|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	211					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAATTTAACTAGAGCCTCCTT	0.517																																																	0								ENSG00000160185						47	45	46					21																	43833596		2203	4300	6503	UBASH3A	SO:0001583	missense	0			-	HGNC	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.631A>G	21.37:g.43833596A>G	ENSP00000317327:p.Arg211Gly	Somatic	0	58	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	39	0	0	34	22.73	10	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.R211G	ENST00000319294.6	37	c.631	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	A	8.535	0.871940	0.17322	.	.	ENSG00000160185	ENST00000319294	T	0.22134	1.97	2.64	-1.29	0.09288	.	30.136900	0.00166	N	0.000007	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15607	-1.0431	10	0.14656	T	0.56	.	2.9703	0.05920	0.4287:0.2465:0.3248:0.0	.	211	P57075	UBS3A_HUMAN	G	211	ENSP00000317327:R211G	ENSP00000317327:R211G	R	+	1	2	UBASH3A	42706665	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.280000	0.08468	-0.277000	0.09193	0.533000	0.62120	AGA	-	NULL		0.517	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	protein_coding	OTTHUMT00000195382.1	A	NM_001001895	-		43833596	1	no_errors	ENST00000319294	ensembl	human	known	74_37	missense	SNP	0.000	G	G	43833596	A	G	43833596	3	3	26	1	0	0	0	0	1	0	0	0	16846	412	15	5	649	5	UBASH3A	21	43833596	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09		43833596	4296299	125	1930											
KRTAP12-2	353323	genome.wustl.edu	37	chr21	46086450	46086450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagaggactggcaggaCggagccgcatacacgacagg	14	13	0	1	rs375784538	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr21:46086450C>T	ENST00000360770.3	-	1	394	c.354G>A	c.(352-354)ccG>ccA	p.P118P	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	118	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						ACTGGCAGGACGGAGCCGCAT	0.627													C|||	10	0.00199681	0	0	5008	,	,		18784	0		0	False		,,,				2504	0.0102																0								ENSG00000221864	C	,	0,4316		0,0,2158	50	60	56		,354	1.7	0.2	21		56	1,8501		0,1,4250	no	intron,coding-synonymous	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,	0,1,6408	TT,TC,CC		0.0118,0.0,0.0078	,	,118/147	46086450	1,12817	2158	4251	6409	KRTAP12-2	SO:0001819	synonymous_variant	0			-	HGNC	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.354G>A	21.37:g.46086450C>T		Somatic	0	51	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	A6NIS1|A6NMS9|Q0VAS4	Silent	SNP	27	0	0	25	21.88	7	pfam_KRTAP_PMG	p.P118	ENST00000360770.3	37	c.354	CCDS42965.1	21																																																																																			-	pfam_KRTAP_PMG		0.627	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	protein_coding	OTTHUMT00000128039.1	C	NM_181684	-		46086450	-1	no_errors	ENST00000360770	ensembl	human	known	74_37	silent	SNP	0.042	T	T	46086450	C	T	46086450	2	4	26	1	0	0	0	0	0	0	0	1	8521	523	19	1		1	KRTAP12-2	21	46086450	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	2252854	46086450	2043445	126	1931											
OR11H1	81061	genome.wustl.edu	37	chr22	16449006	16449006	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgaccataagagagctatAgcacagtgataccacagcca	8	11	0	3			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr22:16449006A>T	ENST00000252835.4	-	1	799	c.799T>A	c.(799-801)Tat>Aat	p.Y267N		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AGAGAGCTATAGCACAGTGAT	0.463																																																	0								ENSG00000130538						2	1	1					22																	16449006		411	753	1164	OR11H1	SO:0001583	missense	0			-	HGNC	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.799T>A	22.37:g.16449006A>T	ENSP00000252835:p.Tyr267Asn	Somatic	0	48	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	Q6IEX0|Q96R32	Missense_Mutation	SNP	11	0	0	14	6.67	1	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y267N	ENST00000252835.4	37	c.799	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	a	11.89	1.774726	0.31411	.	.	ENSG00000130538	ENST00000252835	T	0.41400	1.0	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001749	T	0.68513	0.3009	H	0.94423	3.535	0.24392	N	0.994743	D	0.89917	1.0	D	0.91635	0.999	T	0.59558	-0.7432	10	0.87932	D	0	.	7.8049	0.29195	1.0:0.0:0.0:0.0	.	267	Q8NG94	O11H1_HUMAN	N	267	ENSP00000252835:Y267N	ENSP00000252835:Y267N	Y	-	1	0	OR11H1	14829006	0.000000	0.05858	0.967000	0.41034	0.582000	0.36321	0.194000	0.17135	0.826000	0.34661	0.302000	0.19851	TAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	protein_coding	OTTHUMT00000074923.2	A	NM_001005239	-		16449006	-1	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	SNP	0.915	T	T	16449006	A	T	16449006	3	4	26	1	0	0	0	0	1	0	0	0	10928	420	15	5	183	5	OR11H1	22	16449006	Missense_Mutation	SNP	A	TCGA-DX-A1L2-01A-22D-A24N-09		16449006	34855560	127	1932											
C22orf42	150297	genome.wustl.edu	37	chr22	32550298	32550298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagcgcttggagcgggcGtccaaacctgcaaggtagag	14	11	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr22:32550298G>A	ENST00000382097.3	-	2	312	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	80								p.D80D(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TGGAGCGGGCGTCCAAACCTG	0.393																																																	1	Substitution - coding silent(1)	breast(1)						ENSG00000205856						47	52	50					22																	32550298		2196	4294	6490	C22orf42	SO:0001819	synonymous_variant	0			-	HGNC	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.240C>T	22.37:g.32550298G>A		Somatic	0	36	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A4QPH5	Silent	SNP	35	0	0	19	32.14	9	NULL	p.D80	ENST00000382097.3	37	c.240	CCDS33639.1	22																																																																																			-	NULL		0.393	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	protein_coding	OTTHUMT00000075268.2	G	NM_001010859	-		32550298	-1	no_errors	ENST00000382097	ensembl	human	known	74_37	silent	SNP	0.000	A	A	32550298	G	A	32550298	2	1	26	1	0	0	0	0	0	0	0	1	2151	1136	40	1		1	C22orf42	22	32550298	Silent	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	16101292	32550298	18754268	128	1933											
NPTXR	23467	genome.wustl.edu	37	chr22	39218630	39218630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcatgccttggccctcCccttgcagacatcgaaggca	8	18	1	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr22:39218630C>T	ENST00000333039.2	-	5	1610	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	496	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTTGGCCCTCCCCTTGCAGAC	0.627																																					Pancreas(139;2521 3281 36965)												0								ENSG00000221890						39	26	30					22																	39218630		2203	4300	6503	NPTXR	SO:0001583	missense	0			-	HGNC	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1487G>A	22.37:g.39218630C>T	ENSP00000327545:p.Gly496Glu	Somatic	0	26	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37		Missense_Mutation	SNP	31	0	0	21	27.59	8	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G496E	ENST00000333039.2	37	c.1487	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	C	0.232	-1.020583	0.02061	.	.	ENSG00000221890	ENST00000333039	T	0.08008	3.14	3.76	3.76	0.43208	.	0.331953	0.29376	N	0.012321	T	0.01695	0.0054	N	0.00347	-1.61	0.35316	D	0.784323	B	0.11235	0.004	B	0.09377	0.004	T	0.31833	-0.9929	9	0.02654	T	1	-37.1927	8.7705	0.34728	0.0:0.8405:0.0:0.1595	.	496	O95502	NPTXR_HUMAN	E	496	ENSP00000327545:G496E	ENSP00000327545:G496E	G	-	2	0	NPTXR	37548576	.	.	0.985000	0.45067	0.685000	0.39939	.	.	2.037000	0.60232	0.462000	0.41574	GGG	-	NULL		0.627	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	protein_coding	OTTHUMT00000318194.2	C	NM_014293	-		39218630	-1	no_errors	ENST00000333039	ensembl	human	known	74_37	missense	SNP	0.998	T	T	39218630	C	T	39218630	3	4	26	1	0	0	0	0	1	0	0	0	10606	623	22	2	19	2	NPTXR	22	39218630	Missense_Mutation	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	6668332	39218630	12085936	129	1934											
CDKL5	6792	genome.wustl.edu	37	chrX	18668605	18668605	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcccttcatcgtccaaTctccagtcctgctccctatc	5	19	2	0			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:18668605T>A	ENST00000379989.3	+	21	3158	c.2873T>A	c.(2872-2874)aTc>aAc	p.I958N	RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.I958N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	958					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CATCGTCCAATCTCCAGTCCT	0.567																																																	0								ENSG00000008086						155	111	126					X																	18668605		2203	4300	6503	CDKL5	SO:0001583	missense	0			-	HGNC	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2873T>A	X.37:g.18668605T>A	ENSP00000369325:p.Ile958Asn	Somatic	0	42	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.42	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	13	0	0	13	23.53	4	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I958N	ENST00000379989.3	37	c.2873	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013924	0.19277	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71934	-0.61;-0.61	3.8	-0.0499	0.13833	.	1.741500	0.04638	N	0.404874	T	0.47525	0.1450	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	10	0.62326	D	0.03	.	1.2538	0.01988	0.1413:0.2828:0.3313:0.2445	.	958	O76039	CDKL5_HUMAN	N	958	ENSP00000369332:I958N;ENSP00000369325:I958N	ENSP00000369325:I958N	I	+	2	0	CDKL5	18578526	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.021000	0.13489	-0.424000	0.07382	-0.170000	0.13304	ATC	-	NULL		0.567	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	protein_coding	OTTHUMT00000055945.2	T	NM_003159	-		18668605	1	no_errors	ENST00000379989	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18668605	T	A	18668605	3	1	26	1	0	0	0	0	1	0	0	0	3159	1435	50	5	2947	5	CDKL5	23	18668605	Missense_Mutation	SNP	T	TCGA-DX-A1L2-01A-22D-A24N-09		18668605	136601955	130	1935											
PHEX	5251	genome.wustl.edu	37	chrX	22231040	22231040	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatttccagcaggagagctCcagaagcctttcttttgggg	13	9	1	2			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:22231040C>T	ENST00000379374.4	+	16	2230	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	PHEX_ENST00000537599.1_Silent_p.L555L|PHEX_ENST00000535894.1_Silent_p.L458L|PHEX_ENST00000418858.3_Silent_p.L258L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	555			L -> P (in XLHR). {ECO:0000269|PubMed:9768646}.		bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGGAGAGCTCCAGAAGCCTT	0.403																																																	0								ENSG00000102174						104	102	103					X																	22231040		2203	4300	6503	PHEX	SO:0001819	synonymous_variant	0			-	HGNC	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1665C>T	X.37:g.22231040C>T		Somatic	0	18	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	7	78.12	O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	22	0	0	10	74.36	29	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.L555	ENST00000379374.4	37	c.1665	CCDS14204.1	X																																																																																			-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	protein_coding	OTTHUMT00000056035.1	C	NM_000444	-		22231040	1	no_errors	ENST00000379374	ensembl	human	known	74_37	silent	SNP	0.988	T	T	22231040	C	T	22231040	2	4	26	1	0	0	0	0	0	0	0	1	11821	842	30	2		2	PHEX	23	22231040	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	3562435	22231040	133039520	131	1936											
CACNA1F	778	genome.wustl.edu	37	chrX	49083120	49083120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagaatgactgaaccagcGcagacgtccacgcctcctat	9	13	0	4			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:49083120G>A	ENST00000376265.2	-	10	1415	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R441C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R387C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	452					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGAACCAGCGCAGACGTCCA	0.622																																																	0								ENSG00000102001						35	27	30					X																	49083120		2197	4282	6479	CACNA1F	SO:0001583	missense	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1354C>T	X.37:g.49083120G>A	ENSP00000365441:p.Arg452Cys	Somatic	0	39	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	35	37.50	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	11	0	0	14	33.33	7	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R452C	ENST00000376265.2	37	c.1354	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825122	0.50739	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96427	-4.01;-3.27;-3.93	5.31	4.41	0.53225	.	2.005460	0.02851	N	0.129090	D	0.94132	0.8118	L	0.36672	1.1	0.21290	N	0.999737	P;P	0.47106	0.89;0.824	B;B	0.40101	0.319;0.17	D	0.86859	0.2028	10	0.66056	D	0.02	.	10.4141	0.44311	0.0:0.0:0.8069:0.1931	.	441;452	F5CIQ9;O60840	.;CAC1F_HUMAN	C	387;441;452	ENSP00000365427:R387C;ENSP00000321618:R441C;ENSP00000365441:R452C	ENSP00000321618:R441C	R	-	1	0	CACNA1F	48970064	0.552000	0.26505	0.567000	0.28434	0.514000	0.34195	3.114000	0.50383	2.212000	0.71576	0.431000	0.28591	CGC	-	NULL		0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	G	NM_005183	-		49083120	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	SNP	0.375	A	A	49083120	G	A	49083120	3	1	26	1	0	0	0	0	1	0	0	0	2545	1087	38	1	4735	1	CACNA1F	23	49083120	Missense_Mutation	SNP	G	TCGA-DX-A1L2-01A-22D-A24N-09	26852080	49083120	106187440	132	1937											
ATRX	546	genome.wustl.edu	37	chrX	76939918	76939919	+	Frame_Shift_Ins	INS	-	-	C													tacgctgttacatgcagtgaINSccaagtccaacaaaggctct							TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:76939918_76939919insC	ENST00000373344.5	-	9	1043_1044	c.829_830insG	c.(829-831)gtcfs	p.V277fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V239fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	277	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATGCAGTGACCAAGTCCAAC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.830dupG	X.37:g.76939920_76939920dupC	ENSP00000362441:p.Val277fs	Somatic	0	44	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	19	0	0	19	24.00	6	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V277fs	ENST00000373344.5	37	c.830_829	CCDS14434.1	X																																																																																			-	superfamily_Znf_FYVE_PHD		0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	-	NM_000489			76939919	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	C	C	76939919	-	C	76939918	7	5	26	1	0	1	1	0	0	0	0	0	1208	275	10	0	6756	0	ATRX	23	76939918	Frame_Shift_Ins	INS	-	TCGA-DX-A1L2-01A-22D-A24N-09	27856798	76939918	78330642	133	1938											
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177282	89177282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccgttaagatcctccgCgactggatgtataagcatcg	11	10	0	1			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:89177282C>T	ENST00000561129.2	+	1	328	c.198C>T	c.(196-198)cgC>cgT	p.R66R	TGIF2LX_ENST00000283891.5_Silent_p.R66R			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGATCCTCCGCGACTGGATGT	0.463																																																	0								ENSG00000153779						43	39	40					X																	89177282		2201	4279	6480	TGIF2LX	SO:0001819	synonymous_variant	0			-	HGNC	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.198C>T	X.37:g.89177282C>T		Somatic	0	17	0		0.514234013173024				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73	Q5JRM9|Q8TD48	Silent	SNP	12	0	0	5	44.44	4	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R66	ENST00000561129.2	37	c.198	CCDS14459.1	X																																																																																			-	pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.463	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	protein_coding	OTTHUMT00000417911.2	C	NM_138960	-		89177282	1	no_errors	ENST00000283891	ensembl	human	known	74_37	silent	SNP	0.005	T	T	89177282	C	T	89177282	2	4	26	1	0	0	0	0	0	0	0	1	15834	755	27	1		1	TGIF2LX	23	89177282	Silent	SNP	C	TCGA-DX-A1L2-01A-22D-A24N-09	12237364	89177282	66093278	134	1939											
IL28RA	163702	genome.wustl.edu	37	chr1	24484158	24484158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggtggttcaatgtagGgctggaagctgacgccatct	14	7	2	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:24484158G>A	ENST00000327535.1	-	7	1037	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	IFNLR1_ENST00000374421.3_Missense_Mutation_p.P313L|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	342					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											TTCAATGTAGGGCTGGAAGCT	0.612																																																	0								ENSG00000185436						144	134	137					1																	24484158		2203	4300	6503	IFNLR1	SO:0001583	missense	0			-	HGNC	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1025C>T	1.37:g.24484158G>A	ENSP00000327824:p.Pro342Leu	Somatic	0	65	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	24	4	1	38	22.45	11	superfamily_Fibronectin_type3	p.P342L	ENST00000327535.1	37	c.1025	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912069	0.52439	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.73	4.81	0.61882	.	1.117550	0.06518	N	0.739216	T	0.78162	0.4240	M	0.61703	1.905	0.80722	D	1	D;P	0.89917	1.0;0.765	D;B	0.91635	0.999;0.42	T	0.65788	-0.6083	9	0.87932	D	0	-19.266	10.8847	0.46960	0.0868:0.0:0.9132:0.0	.	342;313	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	L	342;313	.	ENSP00000327824:P342L	P	-	2	0	IL28RA	24356745	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	2.899000	0.48679	1.547000	0.49401	0.655000	0.94253	CCC	-	NULL		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNLR1	protein_coding	OTTHUMT00000008402.1	G	NM_170743	-		24484158	-1	no_errors	ENST00000327535	ensembl	human	known	74_37	missense	SNP	0.914	A	A	24484158	G	A	24484158	3	1	27	1	0	0	0	0	1	0	0	0	7686	1232	43	2	541	2	IL28RA	1	24484158	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09		24484158	224766463	1	1940											
EPB41	2035	genome.wustl.edu	37	chr1	29365852	29365852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccggactcaagctcagaCcaggcaagctagtgctctaa	11	12	3	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:29365852C>G	ENST00000343067.4	+	11	1677	c.1550C>G	c.(1549-1551)aCc>aGc	p.T517S	EPB41_ENST00000373798.1_Missense_Mutation_p.T517S|EPB41_ENST00000373797.1_Missense_Mutation_p.T517S|EPB41_ENST00000373800.3_Missense_Mutation_p.T308S|EPB41_ENST00000398863.2_Missense_Mutation_p.T517S|EPB41_ENST00000356093.2_Missense_Mutation_p.T517S|EPB41_ENST00000347529.3_Missense_Mutation_p.T482S|EPB41_ENST00000349460.4_Missense_Mutation_p.T308S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	517	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAAGCTCAGACCAGGCAAGCT	0.502																																																	0								ENSG00000159023						99	98	99					1																	29365852		2203	4300	6503	EPB41	SO:0001583	missense	0			-	HGNC	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1550C>G	1.37:g.29365852C>G	ENSP00000345259:p.Thr517Ser	Somatic	0	62	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	36	0	0	42	2.33	1	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.T517S	ENST00000343067.4	37	c.1550	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264104	0.80358	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	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	5.69	5.69	0.88448	FERM adjacent (FA) (1);	0.046924	0.85682	D	0.000000	D	0.89870	0.6840	L	0.28192	0.835	0.58432	D	0.999992	D;B;P;D;P;P;D;P;D;P	0.63046	0.99;0.41;0.927;0.99;0.911;0.911;0.972;0.911;0.992;0.675	P;B;P;P;P;P;P;P;D;B	0.75484	0.871;0.326;0.679;0.871;0.55;0.55;0.823;0.55;0.986;0.386	D	0.90597	0.4541	10	0.59425	D	0.04	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	411;517;517;517;517;517;534;482;308;308	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	S	534;517;517;517;411;517;308;308;482;517;517	ENSP00000345259:T517S;ENSP00000348397:T517S;ENSP00000381839:T517S;ENSP00000317597:T308S;ENSP00000362906:T308S;ENSP00000290100:T482S;ENSP00000362904:T517S;ENSP00000362903:T517S	ENSP00000345259:T517S	T	+	2	0	EPB41	29238439	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.854000	0.62918	2.687000	0.91594	0.650000	0.86243	ACC	-	pirsf_Band_41_protein,pfam_FERM-adjacent		0.502	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	protein_coding	OTTHUMT00000010312.1	C	NM_203342	-		29365852	1	no_errors	ENST00000343067	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29365852	C	G	29365852	3	3	27	1	0	0	0	0	1	0	0	0	5153	507	18	4	1588	4	EPB41	1	29365852	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	4881694	29365852	219884769	2	1941											
HIST2H2AB	317772	genome.wustl.edu	37	chr1	149859187	149859187	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccccgagtaacttgttgaGctcttcgtcattcctcacgg	8	14	3	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:149859187G>C	ENST00000331128.3	-	1	279	c.280C>G	c.(280-282)Ctc>Gtc	p.L94V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	94						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AACTTGTTGAGCTCTTCGTCA	0.587																																																	0								ENSG00000184270						113	104	107					1																	149859187		2203	4300	6503	HIST2H2AB	SO:0001583	missense	0			-	HGNC	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"Histones / Replication-dependent"	20508	protein-coding gene	gene with protein product		615014	"histone 2, H2ab"			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.280C>G	1.37:g.149859187G>C	ENSP00000332790:p.Leu94Val	Somatic	0	54	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24		Missense_Mutation	SNP	22	0	0	37	15.91	7	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L94V	ENST00000331128.3	37	c.280	CCDS938.1	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617891	0.46736	.	.	ENSG00000184270	ENST00000331128	T	0.52983	0.64	5.02	5.02	0.67125	Histone-fold (2);Histone H2A (1);	0.000000	0.52532	D	0.000069	T	0.58018	0.2093	M	0.80422	2.495	0.42111	D	0.991385	D	0.64830	0.994	P	0.60173	0.87	T	0.65026	-0.6268	10	0.87932	D	0	.	12.0084	0.53272	0.0:0.1746:0.8254:0.0	.	94	Q8IUE6	H2A2B_HUMAN	V	94	ENSP00000332790:L94V	ENSP00000332790:L94V	L	-	1	0	HIST2H2AB	148125811	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.773000	0.98989	2.480000	0.83734	0.561000	0.74099	CTC	-	superfamily_Histone-fold,smart_Histone_H2A		0.587	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	protein_coding	OTTHUMT00000033440.1	G	NM_175065	-		149859187	-1	no_errors	ENST00000331128	ensembl	human	known	74_37	missense	SNP	1.000	C	C	149859187	G	C	149859187	3	2	27	1	0	0	0	0	1	0	0	0	7179	971	34	4	116	4	HIST2H2AB	1	149859187	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	120493335	149859187	99391434	3	1942											
POU2F1	5451	genome.wustl.edu	37	chr1	167381363	167381363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacacagaccacctccactCctttgtcctcccctcttggg	5	19	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:167381363C>T	ENST00000541643.3	+	15	1816	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	POU2F1_ENST00000429375.2_Missense_Mutation_p.P512S|POU2F1_ENST00000367866.2_Missense_Mutation_p.P575S|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.P564S|POU2F1_ENST00000420254.3_Missense_Mutation_p.P552S			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	552					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCTCCACTCCTTTGTCCTC	0.602																																																	0								ENSG00000143190						118	81	93					1																	167381363		2203	4300	6503	POU2F1	SO:0001583	missense	0			-	HGNC	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1654C>T	1.37:g.167381363C>T	ENSP00000441285:p.Pro552Ser	Somatic	0	48	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	103	12.71	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	29	0	0	158	21.00	42	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.P575S	ENST00000541643.3	37	c.1723		1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117230	0.37339	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.85556	-2.0;-1.96;1.11;1.11;1.11;1.11;1.11	5.5	3.45	0.39498	.	0.630757	0.15448	N	0.261843	T	0.55816	0.1944	N	0.14661	0.345	0.32023	N	0.600507	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.08055	0.001;0.002;0.002;0.003;0.001	T	0.24261	-1.0165	9	0.29301	T	0.29	.	10.3104	0.43706	0.1707:0.7619:0.0:0.0674	.	512;552;564;550;552	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	S	575;512;550;552;552;564;460	ENSP00000356840:P575S;ENSP00000401217:P512S;ENSP00000356839:P550S;ENSP00000414660:P552S;ENSP00000441285:P552S;ENSP00000356836:P564S;ENSP00000415993:P460S	ENSP00000356836:P564S	P	+	1	0	POU2F1	165647987	1.000000	0.71417	0.698000	0.30274	0.999000	0.98932	3.436000	0.52856	0.599000	0.29845	0.650000	0.86243	CCT	-	NULL		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	protein_coding		C	NM_002697	-		167381363	1	no_errors	ENST00000367866	ensembl	human	known	74_37	missense	SNP	0.999	T	T	167381363	C	T	167381363	3	4	27	1	0	0	0	0	1	0	0	0	12273	855	30	2	1704	2	POU2F1	1	167381363	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	17522176	167381363	81869258	4	1943											
SMG7	9887	genome.wustl.edu	37	chr1	183497112	183497112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatacagaaaccagaccaGccaggcagagtcctactata	8	12	0	3			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:183497112G>T	ENST00000347615.2	+	6	625	c.506G>T	c.(505-507)aGc>aTc	p.S169I	SMG7_ENST00000367537.3_Missense_Mutation_p.S198I|SMG7_ENST00000456731.2_Missense_Mutation_p.S127I|SMG7_ENST00000508461.1_Missense_Mutation_p.S127I|SMG7_ENST00000507469.1_Missense_Mutation_p.S169I|SMG7_ENST00000515829.2_Missense_Mutation_p.S169I|SMG7_ENST00000507406.1_3'UTR	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	169					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACCAGACCAGCCAGGCAGAG	0.408																																																	0								ENSG00000116698						93	77	82					1																	183497112		2203	4300	6503	SMG7	SO:0001583	missense	0			-	HGNC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.506G>T	1.37:g.183497112G>T	ENSP00000340766:p.Ser169Ile	Somatic	0	26	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	27	0	0	34	32.00	16	pfam_EST1	p.S169I	ENST00000347615.2	37	c.506	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528793	0.85706	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.64830	0.994;0.988;0.988;0.985;0.994;0.988	D;P;P;P;D;P	0.65233	0.933;0.813;0.865;0.85;0.933;0.798	T	0.12293	-1.0553	10	0.51188	T	0.08	-10.2344	19.9759	0.97304	0.0:0.0:1.0:0.0	.	127;198;127;169;169;169	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	127;198;127;127;169;169;169	ENSP00000407629:S127I;ENSP00000356507:S198I;ENSP00000426915:S127I;ENSP00000388390:S127I;ENSP00000340766:S169I;ENSP00000425133:S169I;ENSP00000421358:S169I	ENSP00000340766:S169I	S	+	2	0	SMG7	181763735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.191000	0.94940	2.713000	0.92767	0.655000	0.94253	AGC	-	pfam_EST1		0.408	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	G	NM_014837	-		183497112	1	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183497112	G	T	183497112	3	4	27	1	0	0	0	0	1	0	0	0	14806	971	34	3	528	3	SMG7	1	183497112	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	16115749	183497112	65753509	5	1944											
NFASC	23114	genome.wustl.edu	37	chr1	204945807	204945807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctttgcaggatgaagaAggaagacgactccctgacca	11	10	0	4			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:204945807A>C	ENST00000401399.1	+	15	1914	c.1715A>C	c.(1714-1716)aAg>aCg	p.K572T	NFASC_ENST00000513543.1_Missense_Mutation_p.K583T|NFASC_ENST00000367171.4_Missense_Mutation_p.K572T|NFASC_ENST00000338586.6_Missense_Mutation_p.K572T|NFASC_ENST00000403080.1_Missense_Mutation_p.K572T|NFASC_ENST00000539706.1_Missense_Mutation_p.K583T|NFASC_ENST00000404907.1_Missense_Mutation_p.K583T|NFASC_ENST00000367172.4_Missense_Mutation_p.K572T|NFASC_ENST00000404076.1_Missense_Mutation_p.K566T|NFASC_ENST00000339876.6_Missense_Mutation_p.K572T|NFASC_ENST00000367169.4_Missense_Mutation_p.K572T|NFASC_ENST00000360049.4_Missense_Mutation_p.K583T|NFASC_ENST00000338515.6_Missense_Mutation_p.K572T|NFASC_ENST00000367170.4_Missense_Mutation_p.K572T			O94856	NFASC_HUMAN	neurofascin	572	Ig-like C2-type 6.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGGATGAAGAAGGAAGACGAC	0.602																																																	0								ENSG00000163531						209	192	198					1																	204945807		2203	4300	6503	NFASC	SO:0001583	missense	0			-	HGNC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1715A>C	1.37:g.204945807A>C	ENSP00000385637:p.Lys572Thr	Somatic	0	64	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	26	0	0	49	7.55	4	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K572T	ENST00000401399.1	37	c.1715	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099539	0.37048	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.13	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.63379	0.2506	N	0.25647	0.755	0.47441	D	0.999424	B;P;B;B;P;B;D	0.76494	0.063;0.539;0.051;0.051;0.789;0.452;0.999	B;B;B;B;B;B;D	0.72982	0.163;0.236;0.062;0.101;0.045;0.13;0.979	T	0.57069	-0.7874	10	0.20519	T	0.43	.	10.3757	0.44081	0.9216:0.0:0.0784:0.0	.	572;583;583;572;572;583;572	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	NFASC_HUMAN;.;.;.;.;.;.	T	572;572;572;572;572;572;583;583;583;572;572;566;572;583;583;559	ENSP00000356140:K572T;ENSP00000356139:K572T;ENSP00000356138:K572T;ENSP00000342128:K572T;ENSP00000344786:K572T;ENSP00000343509:K572T;ENSP00000438614:K583T;ENSP00000353154:K583T;ENSP00000356137:K572T;ENSP00000384875:K572T;ENSP00000385676:K566T;ENSP00000385637:K572T;ENSP00000384061:K583T;ENSP00000425908:K583T;ENSP00000415031:K559T	ENSP00000295776:K583T	K	+	2	0	NFASC	203212430	1.000000	0.71417	0.994000	0.49952	0.691000	0.40173	4.879000	0.63100	0.809000	0.34255	0.459000	0.35465	AAG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	protein_coding	OTTHUMT00000131237.1	A	NM_001005388	-		204945807	1	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	SNP	1.000	C	C	204945807	A	C	204945807	3	2	27	1	0	0	0	0	1	0	0	0	10361	72	3	5	1824	5	NFASC	1	204945807	Missense_Mutation	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09	21448695	204945807	44304814	6	1945											
HEATR1	55127	genome.wustl.edu	37	chr1	236749628	236749628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctcagcagattccgTatcatcattattgataacca	4	10	4	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr1:236749628T>C	ENST00000366582.3	-	15	1954	c.1840A>G	c.(1840-1842)Acg>Gcg	p.T614A	HEATR1_ENST00000366581.2_Missense_Mutation_p.T614A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	614					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCAGATTCCGTATCATCATTA	0.348																																																	0								ENSG00000119285						86	89	88					1																	236749628		2203	4299	6502	HEATR1	SO:0001583	missense	0			-	HGNC	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1840A>G	1.37:g.236749628T>C	ENSP00000355541:p.Thr614Ala	Somatic	0	47	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	28	0	0	58	0.00	0	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.T614A	ENST00000366582.3	37	c.1840	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	0.636	-0.815105	0.02776	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64085	-0.08;1.02	5.42	-5.41	0.02648	Armadillo-like helical (1);Armadillo-type fold (1);	0.870332	0.10221	N	0.700909	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.07030	T	0.85	.	0.3922	0.00412	0.2901:0.2223:0.2769:0.2106	.	614	Q9H583	HEAT1_HUMAN	A	614	ENSP00000355541:T614A;ENSP00000355540:T614A	ENSP00000355540:T614A	T	-	1	0	HEATR1	234816251	0.001000	0.12720	0.000000	0.03702	0.219000	0.24729	0.297000	0.19101	-0.471000	0.06891	0.460000	0.39030	ACG	-	superfamily_ARM-type_fold		0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	T	XM_375853	-		236749628	-1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	SNP	0.000	C	C	236749628	T	C	236749628	3	2	27	1	0	0	0	0	1	0	0	0	7029	1638	57	5	4718	5	HEATR1	1	236749628	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09	31803821	236749628	12500993	7	1946											
APOB	338	genome.wustl.edu	37	chr2	21263893	21263893	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaagccatacacctcTttcagggtgcactggctggt	13	10	2	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr2:21263893T>C	ENST00000233242.1	-	4	427	c.300A>G	c.(298-300)aaA>aaG	p.K100K	APOB_ENST00000399256.4_Silent_p.K100K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	100	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)					CATACACCTCTTTCAGGGTGC	0.507																																																	0								ENSG00000084674						71	63	66					2																	21263893		2203	4300	6503	APOB	SO:0001819	synonymous_variant	0			-	HGNC	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.300A>G	2.37:g.21263893T>C		Somatic	0	52	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	27	0	0	34	29.17	14	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.K100	ENST00000233242.1	37	c.300	CCDS1703.1	2																																																																																			-	pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	T		-		21263893	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	SNP	0.139	C	C	21263893	T	C	21263893	2	2	27	1	0	0	0	0	0	0	0	1	785	1606	56	5		5	APOB	2	21263893	Silent	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09		21263893	221935480	8	1947											
TMEM182	130827	genome.wustl.edu	37	chr2	103414356	103414356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagtcctgatgctcctGggggtagttgctgtagtcat	15	8	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr2:103414356G>A	ENST00000412401.2	+	4	571	c.366G>A	c.(364-366)ctG>ctA	p.L122L	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Silent_p.L79L|TMEM182_ENST00000409528.1_Silent_p.L26L	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	122						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGATGCTCCTGGGGGTAGTTG	0.478																																																	0								ENSG00000170417						112	114	113					2																	103414356		2203	4300	6503	TMEM182	SO:0001819	synonymous_variant	0			-	HGNC	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.366G>A	2.37:g.103414356G>A		Somatic	0	48	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Silent	SNP	27	0	0	39	25.00	13	NULL	p.L122	ENST00000412401.2	37	c.366	CCDS2064.1	2																																																																																			-	NULL		0.478	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	protein_coding	OTTHUMT00000253293.1	G	NM_144632	-		103414356	1	no_errors	ENST00000412401	ensembl	human	known	74_37	silent	SNP	0.998	A	A	103414356	G	A	103414356	2	1	27	1	0	0	0	0	0	0	0	1	16108	1335	47	2		2	TMEM182	2	103414356	Silent	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	82150463	103414356	139785017	9	1948											
SCN9A	6335	genome.wustl.edu	37	chr2	167136889	167136889	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatttcctatagcaagtacaTttttgaattcctcagtcatt	4	8	2	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr2:167136889T>A	ENST00000409435.1	-	13	2320	c.2321A>T	c.(2320-2322)aAt>aTt	p.N774I	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N775I|SCN9A_ENST00000375387.4_Missense_Mutation_p.N775I|SCN9A_ENST00000409672.1_Missense_Mutation_p.N763I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	774					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAAGTACATTTTTGAATTC	0.308																																																	0								ENSG00000169432						42	42	42					2																	167136889		1841	4082	5923	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2321A>T	2.37:g.167136889T>A	ENSP00000386330:p.Asn774Ile	Somatic	0	113	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	64	15.79	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	39	0	0	54	15.62	10	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.N775I	ENST00000409435.1	37	c.2324	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	T	7.326	0.618001	0.14129	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31	5.9	5.9	0.94986	.	0.256305	0.34777	N	0.003700	D	0.94794	0.8319	M	0.71581	2.175	0.34971	D	0.753139	P	0.43412	0.806	B	0.36719	0.231	D	0.95659	0.8713	10	0.42905	T	0.14	.	7.8215	0.29290	0.0:0.0695:0.1395:0.791	.	763	E7EUN6	.	I	763;775;775;774	ENSP00000386306:N763I;ENSP00000364536:N775I;ENSP00000304748:N775I;ENSP00000386330:N774I	ENSP00000304748:N775I	N	-	2	0	SCN9A	166845135	0.010000	0.17322	0.918000	0.36340	0.060000	0.15804	1.861000	0.39438	2.251000	0.74343	0.528000	0.53228	AAT	-	NULL		0.308	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	T	NM_002977	-		167136889	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	0.718	A	A	167136889	T	A	167136889	3	1	27	1	0	0	0	0	1	0	0	0	13933	1493	52	5	3701	5	SCN9A	2	167136889	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09	63722533	167136889	76062484	10	1949											
TTN	7273	genome.wustl.edu	37	chr2	179476124	179476124	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtctttggcaaccacattTtcagagatttcagatggctc	10	9	3	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr2:179476124T>A	ENST00000591111.1	-	219	46133	c.45909A>T	c.(45907-45909)gaA>gaT	p.E15303D	TTN_ENST00000359218.5_Missense_Mutation_p.E8004D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7879D|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16944D|TTN_ENST00000342175.6_Missense_Mutation_p.E8071D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14376D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15303	Fibronectin type-III 11. {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)			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)			CAACCACATTTTCAGAGATTT	0.383																																																	0								ENSG00000155657						76	72	73					2																	179476124		1987	4175	6162	TTN	SO:0001583	missense	0			-	HGNC	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.45909A>T	2.37:g.179476124T>A	ENSP00000465570:p.Glu15303Asp	Somatic	0	23	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	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	33	0	0	46	34.29	24	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E14376D	ENST00000591111.1	37	c.43128		2	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778298	0.31502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.95	4.82	0.62117	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54886	0.1886	N	0.25647	0.755	0.43152	D	0.994923	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.72625	0.978;0.978;0.978;0.978	T	0.59075	-0.7522	9	0.87932	D	0	.	6.3574	0.21408	0.0:0.2319:0.0:0.7681	.	7879;8004;8071;15303	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	14376;7879;8071;8004;7879	ENSP00000343764:E14376D;ENSP00000434586:E7879D;ENSP00000340554:E8071D;ENSP00000352154:E8004D	ENSP00000340554:E8071D	E	-	3	2	TTN	179184369	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	0.254000	0.18314	2.279000	0.76181	0.533000	0.62120	GAA	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179476124	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179476124	T	A	179476124	3	1	27	1	0	0	0	0	1	0	0	0	16742	1838	64	5	57237	5	TTN	2	179476124	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09	12339235	179476124	63723249	11	1950											
PRR21	643905	genome.wustl.edu	37	chr2	240982144	240982144	+	Frame_Shift_Del	DEL	T	T	-													aagaggcatggatgaaggacTgtgggtgaagagccgtggat					rs79314166	byFrequency	TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr2:240982144delT	ENST00000408934.1	-	1	255	c.256delA	c.(256-258)agtfs	p.S86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S86fs*291(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						GATGAAGGACTGTGGGTGAAG	0.617																																																	2	Deletion - Frameshift(2)	upper_aerodigestive_tract(2)						ENSG00000221961						162	154	157					2																	240982144		2058	4126	6184	PRR21	SO:0001589	frameshift_variant	0				HGNC	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.256delA	2.37:g.240982144delT	ENSP00000386166:p.Ser86fs	Somatic	0	15	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00		Frame_Shift_Del	DEL	2	0	0	1	0.00	0	NULL	p.S86fs	ENST00000408934.1	37	c.256	CCDS33417.1	2																																																																																			-	NULL		0.617	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR21	protein_coding		T	NM_001080835			240982144	-1	no_errors	ENST00000408934	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	240982144	T	-	240982144	7	5	27	1	0	1	0	1	0	0	0	0	12597	1580	55	0	916	0	PRR21	2	240982144	Frame_Shift_Del	DEL	T	TCGA-DX-A1L3-01A-11D-A24N-09	61506020	240982144	2217229	12	1951											
RTP3	83597	genome.wustl.edu	37	chr3	46539582	46539582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacagaagtgtggaagcaAatgtttcaggagttaatgcg	13	5	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr3:46539582A>G	ENST00000296142.3	+	1	602	c.30A>G	c.(28-30)caA>caG	p.Q10Q		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGTGGAAGCAAATGTTTCAGG	0.592																																																	0								ENSG00000163825						104	94	98					3																	46539582		2203	4300	6503	RTP3	SO:0001819	synonymous_variant	0			-	HGNC	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.30A>G	3.37:g.46539582A>G		Somatic	0	17	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A2RRP6	Silent	SNP	29	0	0	37	28.85	15	NULL	p.Q10	ENST00000296142.3	37	c.30	CCDS2740.1	3																																																																																			-	NULL		0.592	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP3	protein_coding	OTTHUMT00000257379.2	A	NM_031440	-		46539582	1	no_errors	ENST00000296142	ensembl	human	known	74_37	silent	SNP	0.000	G	G	46539582	A	G	46539582	2	3	27	1	0	0	0	0	0	0	0	1	13743	11	1	5		5	RTP3	3	46539582	Silent	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09		46539582	151482848	13	1952											
RHO	6010	genome.wustl.edu	37	chr3	129249837	129249837	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatgggcgttgccttcacCtgggtcatggcgctggcctg	14	12	3	0	rs151063543		TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr3:129249837C>A	ENST00000296271.3	+	2	574	c.480C>A	c.(478-480)acC>acA	p.T160T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	160					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TTGCCTTCACCTGGGTCATGG	0.632													C|||	1	0.000199681	0	0.0014	5008	,	,		19061	0		0	False		,,,				2504	0				Esophageal Squamous(118;214 1623 30842 43234 46940)												0			GRCh37	CM941256	RHO	M	rs151063543	ENSG00000163914	C		7,4399	12.9+/-30.5	0,7,2196	138	110	119		480	0.7	1	3	dbSNP_134	119	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous	RHO	NM_000539.3		0,31,6472	AA,AC,CC		0.2791,0.1589,0.2384		160/349	129249837	31,12975	2203	4300	6503	RHO	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.480C>A	3.37:g.129249837C>A		Somatic	0	54	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q16414|Q2M249	Silent	SNP	26	0	0	37	2.63	1	pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin	p.T160	ENST00000296271.3	37	c.480	CCDS3063.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.632	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	protein_coding	OTTHUMT00000356101.1	C	NM_000539	rs151063543		129249837	1	no_errors	ENST00000296271	ensembl	human	known	74_37	silent	SNP	0.945	A	A	129249837	C	A	129249837	2	1	27	1	0	0	0	0	0	0	0	1	13338	668	24	3		3	RHO	3	129249837	Silent	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	82710255	129249837	68772593	14	1953											
SMC4	10051	genome.wustl.edu	37	chr3	160148853	160148853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatccagaaagaacatcgcAatctgcttcaagaattaaaa	6	8	2	4			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr3:160148853A>G	ENST00000357388.3	+	20	3425	c.2974A>G	c.(2974-2976)Aat>Gat	p.N992D	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.N967D|SMC4_ENST00000344722.5_Missense_Mutation_p.N992D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	992					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAACATCGCAATCTGCTTCA	0.333																																																	0								ENSG00000113810						53	55	55					3																	160148853		2203	4298	6501	SMC4	SO:0001583	missense	0			-	HGNC	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2974A>G	3.37:g.160148853A>G	ENSP00000349961:p.Asn992Asp	Somatic	0	49	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	49	0	0	47	16.07	9	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.N992D	ENST00000357388.3	37	c.2974	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	A	5.522	0.281283	0.10458	.	.	ENSG00000113810	ENST00000357388;ENST00000469762;ENST00000344722;ENST00000545277	T;T;T	0.77358	-1.09;-0.76;-1.09	5.95	2.19	0.27852	RecF/RecN/SMC (1);	0.558447	0.22235	N	0.062762	T	0.56717	0.2004	N	0.13327	0.33	0.09310	N	1	B;B;B	0.24675	0.001;0.001;0.109	B;B;B	0.30943	0.004;0.003;0.122	T	0.41197	-0.9522	10	0.13108	T	0.6	-8.3679	5.7999	0.18408	0.6986:0.0:0.1877:0.1137	.	967;967;992	B3KXX5;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	D	992;967;992;586	ENSP00000349961:N992D;ENSP00000417964:N967D;ENSP00000341382:N992D	ENSP00000341382:N992D	N	+	1	0	SMC4	161631547	0.000000	0.05858	0.617000	0.29091	0.627000	0.37826	0.348000	0.20031	0.138000	0.18790	-0.256000	0.11100	AAT	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.333	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	protein_coding	OTTHUMT00000352862.1	A		-		160148853	1	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	SNP	0.000	G	G	160148853	A	G	160148853	3	3	27	1	0	0	0	0	1	0	0	0	14793	130	5	5	3048	5	SMC4	3	160148853	Missense_Mutation	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09	30899016	160148853	37873577	15	1954											
SI	6476	genome.wustl.edu	37	chr3	164786611	164786611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatcctgtttaatttggCttcaactccttaaagaataa	6	7	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr3:164786611C>T	ENST00000264382.3	-	5	444	c.382G>A	c.(382-384)Gcc>Acc	p.A128T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	128	Isomaltase.				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)	TTTAATTTGGCTTCAACTCCT	0.313										HNSCC(35;0.089)																																							0								ENSG00000090402						103	107	106					3																	164786611		2203	4300	6503	SI	SO:0001583	missense	0			-	HGNC	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.382G>A	3.37:g.164786611C>T	ENSP00000264382:p.Ala128Thr	Somatic	0	63	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	27	0	0	40	25.93	14	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.A128T	ENST00000264382.3	37	c.382	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588405	0.46110	.	.	ENSG00000090402	ENST00000264382	D	0.86366	-2.11	5.5	2.75	0.32379	Glycoside hydrolase-type carbohydrate-binding (1);	0.399837	0.25543	N	0.029951	D	0.89656	0.6778	H	0.94222	3.51	0.41908	D	0.990451	B	0.29716	0.255	B	0.29862	0.108	D	0.87025	0.2131	10	0.59425	D	0.04	.	10.6071	0.45400	0.0:0.792:0.0:0.208	.	128	P14410	SUIS_HUMAN	T	128	ENSP00000264382:A128T	ENSP00000264382:A128T	A	-	1	0	SI	166269305	0.988000	0.35896	0.797000	0.32132	0.529000	0.34654	1.310000	0.33551	0.385000	0.24970	0.467000	0.42956	GCC	-	superfamily_Gal_mutarotase_SF_dom		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	C	NM_001041	-		164786611	-1	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	SNP	0.990	T	T	164786611	C	T	164786611	3	4	27	1	0	0	0	0	1	0	0	0	14305	797	28	2	5277	2	SI	3	164786611	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	4637758	164786611	33235819	16	1955											
SKIL	6498	genome.wustl.edu	37	chr3	170078753	170078753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaggtactgggcatacttCcattcaatgccccatcctgt	7	12	1	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr3:170078753C>T	ENST00000458537.3	+	1	1343	c.634C>T	c.(634-636)Cca>Tca	p.P212S	SKIL_ENST00000413427.2_Missense_Mutation_p.P212S|SKIL_ENST00000259119.4_Missense_Mutation_p.P212S|SKIL_ENST00000426052.2_Missense_Mutation_p.P192S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	212					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGGCATACTTCCATTCAATGC	0.398																																																	0								ENSG00000136603						110	102	105					3																	170078753		2203	4300	6503	SKIL	SO:0001583	missense	0			-	HGNC	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.634C>T	3.37:g.170078753C>T	ENSP00000415243:p.Pro212Ser	Somatic	0	24	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	42	0	0	51	27.78	20	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.P212S	ENST00000458537.3	37	c.634	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498104	0.64186	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.51	5.51	0.81932	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.83774	2.66	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92816	0.6268	10	0.87932	D	0	-7.2864	19.4767	0.94992	0.0:1.0:0.0:0.0	.	212;212	P12757-3;P12757	.;SKIL_HUMAN	S	212;192;212;212	ENSP00000259119:P212S;ENSP00000406520:P192S;ENSP00000400193:P212S;ENSP00000415243:P212S	ENSP00000259119:P212S	P	+	1	0	SKIL	171561447	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.487000	0.81328	2.612000	0.88384	0.644000	0.83932	CCA	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.398	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	protein_coding	OTTHUMT00000352351.4	C	NM_005414	-		170078753	1	no_errors	ENST00000259119	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170078753	C	T	170078753	3	4	27	1	0	0	0	0	1	0	0	0	14366	855	30	2	636	2	SKIL	3	170078753	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	5292142	170078753	27943677	17	1956											
LIMCH1	22998	genome.wustl.edu	37	chr4	41664997	41664997	+	Frame_Shift_Del	DEL	A	A	-													ggtggagttggtgctgtcacAaaaggtgaagtgcagagtgg							TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr4:41664997delA	ENST00000313860.7	+	15	2186	c.2132delA	c.(2131-2133)caafs	p.Q711fs	LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Q552fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Q711fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Q545fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Q540fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Q711fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Q1096fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Q557fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Q552fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Q545fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Q711fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Q699fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	711					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTGCTGTCACAAAAGGTGAAG	0.463																																																	0								ENSG00000064042						46	46	46					4																	41664997		2203	4300	6503	LIMCH1	SO:0001589	frameshift_variant	0				HGNC	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2132delA	4.37:g.41664997delA	ENSP00000316891:p.Gln711fs	Somatic	0	20	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	27	0	0	47	0.00	0	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K1097fs	ENST00000313860.7	37	c.3287	CCDS33977.1	4																																																																																			-	NULL		0.463	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	protein_coding	OTTHUMT00000361249.2	A	NM_014988			41664997	1	no_errors	ENST00000503057	ensembl	human	known	74_37	frame_shift_del	DEL	0.994	-	-	41664997	A	-	41664997	7	5	27	1	0	1	0	1	0	0	0	0	8799	130	5	0	2218	0	LIMCH1	4	41664997	Frame_Shift_Del	DEL	A	TCGA-DX-A1L3-01A-11D-A24N-09		41664997	149489279	18	1957											
ZNF827	152485	genome.wustl.edu	37	chr4	146700609	146700609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagggaaaaagctggtcaTtgaatttccaggatggtaat	11	6	1	1	rs532396743		TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr4:146700609T>C	ENST00000508784.1	-	9	2665	c.2438A>G	c.(2437-2439)aAt>aGt	p.N813S	ZNF827_ENST00000513320.1_Missense_Mutation_p.N463S|ZNF827_ENST00000379448.4_Missense_Mutation_p.N813S			Q17R98	ZN827_HUMAN	zinc finger protein 827	813					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)					AAGCTGGTCATTGAATTTCCA	0.468																																																	0								ENSG00000151612						115	104	108					4																	146700609		2203	4300	6503	ZNF827	SO:0001583	missense	0			-	HGNC	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.2438A>G	4.37:g.146700609T>C	ENSP00000421863:p.Asn813Ser	Somatic	0	56	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	28	0	0	39	27.78	15	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N813S	ENST00000508784.1	37	c.2438		4	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449651	0.43531	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.07216	3.27;3.21;3.31	5.76	3.12	0.35913	.	0.170237	0.64402	N	0.000006	T	0.04815	0.0130	N	0.17082	0.46	0.39542	D	0.968836	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.36383	-0.9750	10	0.38643	T	0.18	-13.8059	5.9554	0.19271	0.0:0.142:0.1392:0.7188	.	463;813;813	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	S	813;463;813;812;463	ENSP00000421863:N813S;ENSP00000423130:N463S;ENSP00000368761:N813S	ENSP00000281318:N812S	N	-	2	0	ZNF827	146920059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.616000	0.46376	0.972000	0.38314	0.482000	0.46254	AAT	-	NULL		0.468	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	T	NM_178835	-		146700609	-1	no_errors	ENST00000508784	ensembl	human	known	74_37	missense	SNP	1.000	C	C	146700609	T	C	146700609	3	2	27	1	0	0	0	0	1	0	0	0	18187	1493	52	5	815	5	ZNF827	4	146700609	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09	105035612	146700609	44453667	19	1958											
PDZD2	23037	genome.wustl.edu	37	chr5	32088673	32088673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcgctagctcagccatgGaaaacagtccgctgtctaaa	9	13	2	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr5:32088673G>A	ENST00000438447.1	+	20	5507	c.5119G>A	c.(5119-5121)Gaa>Aaa	p.E1707K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1707K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1707					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAGCCATGGAAAACAGTCC	0.512																																																	0								ENSG00000133401						103	89	94					5																	32088673		2203	4300	6503	PDZD2	SO:0001583	missense	0			-	HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5119G>A	5.37:g.32088673G>A	ENSP00000402033:p.Glu1707Lys	Somatic	0	33	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	55	46.08	Q9BXD4	Missense_Mutation	SNP	32	3.03	1	54	58.14	75	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1707K	ENST00000438447.1	37	c.5119	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352137	0.41700	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07908	3.15;3.15	4.69	3.82	0.43975	.	0.523320	0.17515	N	0.171470	T	0.06005	0.0156	L	0.46157	1.445	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.28776	-1.0033	10	0.02654	T	1	.	8.6812	0.34209	0.1069:0.0:0.8931:0.0	.	1707	O15018	PDZD2_HUMAN	K	1707;1508;1707	ENSP00000402033:E1707K;ENSP00000282493:E1707K	ENSP00000282493:E1707K	E	+	1	0	PDZD2	32124430	0.023000	0.18921	0.019000	0.16419	0.049000	0.14656	1.275000	0.33144	0.974000	0.38366	0.561000	0.74099	GAA	-	NULL		0.512	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	G		-		32088673	1	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	SNP	0.034	A	A	32088673	G	A	32088673	3	1	27	1	0	0	0	0	1	0	0	0	11703	1175	41	2	5193	2	PDZD2	5	32088673	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09		32088673	148826587	20	1959			1	15		3	3	381	G		2.980848e-07
PDZD2	23037	genome.wustl.edu	37	chr5	32088856	32088856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggatgtccctaagaatGgagaatctgttttggaaaac	12	5	1	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr5:32088856G>A	ENST00000438447.1	+	20	5690	c.5302G>A	c.(5302-5304)Gga>Aga	p.G1768R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1768R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1768					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCTAAGAATGGAGAATCTGT	0.463																																																	0								ENSG00000133401						94	87	90					5																	32088856		2203	4300	6503	PDZD2	SO:0001583	missense	0			-	HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5302G>A	5.37:g.32088856G>A	ENSP00000402033:p.Gly1768Arg	Somatic	0	92	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	69	51.75	Q9BXD4	Missense_Mutation	SNP	30	0	0	50	60.32	76	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1768R	ENST00000438447.1	37	c.5302	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902522	0.52227	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07908	3.15;3.15	5.58	1.82	0.25136	.	0.625902	0.15133	N	0.278748	T	0.17365	0.0417	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.58721	0.844	T	0.06625	-1.0816	10	0.66056	D	0.02	.	7.6395	0.28286	0.3447:0.0:0.6553:0.0	.	1768	O15018	PDZD2_HUMAN	R	1768;1569;1768	ENSP00000402033:G1768R;ENSP00000282493:G1768R	ENSP00000282493:G1768R	G	+	1	0	PDZD2	32124613	0.101000	0.21875	0.000000	0.03702	0.042000	0.13812	0.895000	0.28363	0.049000	0.15920	0.561000	0.74099	GGA	-	NULL		0.463	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	G		-		32088856	1	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	SNP	0.000	A	A	32088856	G	A	32088856	3	1	27	1	0	0	0	0	1	0	0	0	11703	1349	47	2	5376	2	PDZD2	5	32088856	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	183	32088856	148826404	21	1960			1	15		3	3	381	G		2.980848e-07
PDZD2	23037	genome.wustl.edu	37	chr5	32089053	32089053	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagaagtcccgactccaaGattcagatggtgagttcaag	11	10	2	4			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr5:32089053G>A	ENST00000438447.1	+	20	5887	c.5499G>A	c.(5497-5499)aaG>aaA	p.K1833K	PDZD2_ENST00000282493.3_Silent_p.K1833K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1833					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.K1833N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGACTCCAAGATTCAGATGG	0.443																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000133401						100	106	104					5																	32089053		2203	4300	6503	PDZD2	SO:0001819	synonymous_variant	0			-	HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5499G>A	5.37:g.32089053G>A		Somatic	0	31	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	42.86	Q9BXD4	Silent	SNP	34	2.86	1	70	52.70	78	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1833	ENST00000438447.1	37	c.5499	CCDS34137.1	5																																																																																			-	NULL		0.443	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	G		-		32089053	1	no_errors	ENST00000282493	ensembl	human	known	74_37	silent	SNP	0.074	A	A	32089053	G	A	32089053	2	1	27	1	0	0	0	0	0	0	0	1	11703	933	33	2		2	PDZD2	5	32089053	Silent	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	197	32089053	148826207	22	1961			1	15		3	3	381	G		2.980848e-07
IL7R	3575	genome.wustl.edu	37	chr5	35873642	35873642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctccaaccggcagcaAtgtatgagattaaagttcga	10	8	0	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr5:35873642A>G	ENST00000303115.3	+	5	727	c.598A>G	c.(598-600)Atg>Gtg	p.M200V	IL7R_ENST00000343305.4_Missense_Mutation_p.M200V|IL7R_ENST00000506850.1_Missense_Mutation_p.M200V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	200	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACCGGCAGCAATGTATGAGAT	0.413			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0								ENSG00000168685						74	71	72					5																	35873642		2203	4300	6503	IL7R	SO:0001583	missense	0			-	HGNC	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.598A>G	5.37:g.35873642A>G	ENSP00000306157:p.Met200Val	Somatic	0	34	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	43	2.27	1	36	34.55	19	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.M200V	ENST00000303115.3	37	c.598	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	A	0.121	-1.125082	0.01770	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000505093	T;T;T;T	0.75367	0.45;0.45;0.45;-0.93	5.97	2.28	0.28536	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.670270	0.16366	N	0.217521	T	0.62938	0.2469	L	0.48362	1.52	0.34521	D	0.708124	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.59883	-0.7370	10	0.29301	T	0.29	-18.4596	6.9596	0.24590	0.7412:0.0:0.2588:0.0	.	200;200	D6RGV2;P16871	.;IL7RA_HUMAN	V	200;200;200;3	ENSP00000306157:M200V;ENSP00000345819:M200V;ENSP00000421207:M200V;ENSP00000426069:M3V	ENSP00000306157:M200V	M	+	1	0	IL7R	35909399	0.102000	0.21896	0.892000	0.35008	0.139000	0.21198	0.261000	0.18442	0.476000	0.27440	0.533000	0.62120	ATG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3		0.413	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	protein_coding	OTTHUMT00000207577.2	A		-		35873642	1	no_errors	ENST00000303115	ensembl	human	known	74_37	missense	SNP	0.804	G	G	35873642	A	G	35873642	3	3	27	1	0	0	0	0	1	0	0	0	7707	101	4	5	616	5	IL7R	5	35873642	Missense_Mutation	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09	3784589	35873642	145041618	23	1962											
ABCC10	89845	genome.wustl.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	10	13	0	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																																	0								ENSG00000124574						114	102	106					6																	43403588		2203	4300	6503	ABCC10	SO:0001583	missense	0			-	HGNC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp	Somatic	0	40	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	31	0	0	25	35.00	14	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R570W	ENST00000372530.4	37	c.1708	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG	-	superfamily_ABC1_TM_dom		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	protein_coding	OTTHUMT00000040603.2	C	NM_033450	-		43403588	1	no_errors	ENST00000372530	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43403588	C	T	43403588	3	4	27	1	0	0	0	0	1	0	0	0	50	643	23	1	1589	1	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09		43403588	127711479	24	1963											
AZGP1	563	genome.wustl.edu	37	chr7	99564889	99564893	+	Frame_Shift_Del	DEL	TGACC	TGACC	-													tcctggggcctggtggctggTgaccaccacagagggaggat							TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	TGACC	TGACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr7:99564889_99564893delTGACC	ENST00000292401.4	-	4	766_770	c.630_634delGGTCA	c.(628-636)gtggtcaccfs	p.VT211fs	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	211	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGGTGGCTGGTGACCACCACAGAGG	0.59																																																	0								ENSG00000160862																																			AZGP1	SO:0001589	frameshift_variant	0				HGNC	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.630_634delGGTCA	7.37:g.99564889_99564893delTGACC	ENSP00000292401:p.Val211fs	Somatic					0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D6W5T8|O60386|Q5XKQ4|Q8N4N0	Frame_Shift_Del	DEL	27	0	0	39	0.00	0	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.V211fs	ENST00000292401.4	37	c.634_630	CCDS5680.1	7																																																																																			-	pfscan_Ig-like_dom		0.59	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	protein_coding	OTTHUMT00000059387.4	TGACC	NM_001185			99564893	-1	no_errors	ENST00000292401	ensembl	human	known	74_37	frame_shift_del	DEL	0.319:0.295:0.275:0.225:0.030	-	-	99564893	TGACC	-	99564889	7	5	27	1	0	1	0	1	0	0	0	0	1239	1696	59	0	266	0	AZGP1	7	99564889	Frame_Shift_Del	DEL	TGACC	TCGA-DX-A1L3-01A-11D-A24N-09		99564889	59573774	25	1964											
GIGYF1	64599	genome.wustl.edu	37	chr7	100279600	100279600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccgtctgcagcgaggcgCtgctcagccatgcctcctaa	12	15	2	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr7:100279600C>T	ENST00000275732.5	-	23	4151	c.2942G>A	c.(2941-2943)aGc>aAc	p.S981N	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	981					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGCGAGGCGCTGCTCAGCCA	0.677																																																	0								ENSG00000146830						31	29	30					7																	100279600		2202	4300	6502	GIGYF1	SO:0001583	missense	0			-	HGNC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2942G>A	7.37:g.100279600C>T	ENSP00000275732:p.Ser981Asn	Somatic	0	72	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	30.65	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	35	0	0	30	23.08	9	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S981N	ENST00000275732.5	37	c.2942	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	10.56	1.383309	0.25031	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.63255	-0.03	5.14	3.27	0.37495	.	0.270358	0.41500	D	0.000877	T	0.37972	0.1023	N	0.14661	0.345	0.24871	N	0.992281	B	0.02656	0.0	B	0.01281	0.0	T	0.12837	-1.0532	10	0.17369	T	0.5	-4.3766	7.1004	0.25333	0.0:0.6406:0.263:0.0964	.	981	O75420	PERQ1_HUMAN	N	700;981	ENSP00000275732:S981N	ENSP00000275732:S981N	S	-	2	0	GIGYF1	100117536	0.968000	0.33430	0.815000	0.32552	0.791000	0.44710	2.753000	0.47524	1.402000	0.46780	-0.263000	0.10527	AGC	-	NULL		0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	C	NM_022574	-		100279600	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	SNP	0.960	T	T	100279600	C	T	100279600	3	4	27	1	0	0	0	0	1	0	0	0	6379	797	28	2	173	2	GIGYF1	7	100279600	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	714711	100279600	58859063	26	1965											
SRRT	51593	genome.wustl.edu	37	chr7	100482417	100482417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcggagggtgatggggaCaaggaagagaagaaagaaga	18	2	0	5	rs201815722		TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr7:100482417C>T	ENST00000347433.4	+	8	1157	c.999C>T	c.(997-999)gaC>gaT	p.D333D	SRRT_ENST00000457580.2_Silent_p.D333D|SRRT_ENST00000432932.1_Silent_p.D333D|SRRT_ENST00000388793.4_Silent_p.D333D			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	333	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGATGGGGACAAGGAAGAGA	0.522													C|||	1	0.000199681	0	0	5008	,	,		14453	0		0.001	False		,,,				2504	0																0								ENSG00000087087						78	82	81					7																	100482417		2203	4300	6503	SRRT	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.999C>T	7.37:g.100482417C>T		Somatic	0	65	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	28	0	0	27	34.15	14	pfam_Arsenite-R_2,pfam_DUF3546	p.D333	ENST00000347433.4	37	c.999	CCDS34709.1	7																																																																																			-	NULL		0.522	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	protein_coding	OTTHUMT00000347168.1	C	NM_015908	rs201815722		100482417	1	no_errors	ENST00000388793	ensembl	human	known	74_37	silent	SNP	0.989	T	T	100482417	C	T	100482417	2	4	27	1	0	0	0	0	0	0	0	1	15179	477	17	2		2	SRRT	7	100482417	Silent	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	202817	100482417	58656246	27	1966											
CFTR	1080	genome.wustl.edu	37	chr7	117188766	117188766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctaatggtgatgacagCctcttcttcagtaatttctc	6	10	5	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr7:117188766C>T	ENST00000003084.6	+	10	1413	c.1281C>T	c.(1279-1281)agC>agT	p.S427S	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	427	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GTGATGACAGCCTCTTCTTCA	0.373									Cystic Fibrosis																																								0								ENSG00000001626						27	27	27					7																	117188766		2202	4280	6482	CFTR	SO:0001819	synonymous_variant	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1281C>T	7.37:g.117188766C>T		Somatic	0	105	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	75	10.71	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	68	0	0	82	8.89	8	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.S427	ENST00000003084.6	37	c.1281	CCDS5773.1	7																																																																																			-	superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.373	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	C	NM_000492	-		117188766	1	no_errors	ENST00000003084	ensembl	human	known	74_37	silent	SNP	0.424	T	T	117188766	C	T	117188766	2	4	27	1	0	0	0	0	0	0	0	1	3296	738	26	2		2	CFTR	7	117188766	Silent	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	16706349	117188766	41949897	28	1967											
TUSC3	7991	genome.wustl.edu	37	chr8	15508302	15508302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatggtggactatgatgaGgggacagacgtttttcagca	14	5	1	3			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr8:15508302G>A	ENST00000503731.1	+	3	553	c.405G>A	c.(403-405)gaG>gaA	p.E135E	TUSC3_ENST00000509380.1_Silent_p.E135E|TUSC3_ENST00000506802.1_Silent_p.E135E|TUSC3_ENST00000382020.4_Silent_p.E135E|TUSC3_ENST00000503191.1_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	135	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)		ACTATGATGAGGGGACAGACG	0.363																																																	0								ENSG00000104723						250	247	248					8																	15508302		2203	4300	6503	TUSC3	SO:0001819	synonymous_variant	0			-	HGNC	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.405G>A	8.37:g.15508302G>A		Somatic	0	152	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	66	20.24	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	29	0	0	41	25.45	14	pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E135	ENST00000503731.1	37	c.405	CCDS5994.1	8																																																																																			-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.363	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	protein_coding	OTTHUMT00000365367.1	G	NM_006765	-		15508302	1	no_errors	ENST00000503731	ensembl	human	known	74_37	silent	SNP	0.997	A	A	15508302	G	A	15508302	2	1	27	1	0	0	0	0	0	0	0	1	16785	991	35	2		2	TUSC3	8	15508302	Silent	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09		15508302	130855720	29	1968											
HR	55806	genome.wustl.edu	37	chr8	21986391	21986391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcatggcctccttccagCgcagtccctctttgctgccc	8	17	1	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr8:21986391C>T	ENST00000381418.4	-	2	1773	c.293G>A	c.(292-294)cGc>cAc	p.R98H	HR_ENST00000312841.8_Missense_Mutation_p.R98H|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	98					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCTTCCAGCGCAGTCCCTC	0.652																																																	0								ENSG00000168453						54	52	53					8																	21986391		2202	4300	6502	HR	SO:0001583	missense	0			-	HGNC	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.293G>A	8.37:g.21986391C>T	ENSP00000370826:p.Arg98His	Somatic	0	64	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	30	0	0	20	39.39	13	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R98H	ENST00000381418.4	37	c.293	CCDS6022.1	8	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344423	0.41498	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.74106	-0.8;-0.81	4.72	2.85	0.33270	.	0.160475	0.29692	N	0.011458	T	0.59459	0.2195	L	0.34521	1.04	0.27888	N	0.939439	B;B;B	0.18741	0.023;0.03;0.017	B;B;B	0.14578	0.004;0.011;0.005	T	0.52852	-0.8520	10	0.51188	T	0.08	-7.088	6.2548	0.20867	0.0:0.7605:0.0:0.2395	.	98;98;98	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	H	98	ENSP00000370826:R98H;ENSP00000326765:R98H	ENSP00000326765:R98H	R	-	2	0	HR	22042336	0.048000	0.20356	0.996000	0.52242	0.905000	0.53344	-0.070000	0.11523	0.549000	0.28973	-0.258000	0.10820	CGC	-	NULL		0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	protein_coding	OTTHUMT00000214213.1	C		-		21986391	-1	no_errors	ENST00000381418	ensembl	human	known	74_37	missense	SNP	0.988	T	T	21986391	C	T	21986391	3	4	27	1	0	0	0	0	1	0	0	0	7349	768	27	1	3348	1	HR	8	21986391	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	6478089	21986391	124377631	30	1969											
WRN	7486	genome.wustl.edu	37	chr8	30999277	30999277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaattgtgtccaaagaaGttgcttctgcctaggttcat	10	7	2	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr8:30999277G>T	ENST00000298139.5	+	26	3468	c.3219G>T	c.(3217-3219)aaG>aaT	p.K1073N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1073					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)		GTCCAAAGAAGTTGCTTCTGC	0.338			"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)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								ENSG00000165392						115	115	115					8																	30999277		2203	4300	6503	WRN	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria	-	HGNC		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.3219G>T	8.37:g.30999277G>T	ENSP00000298139:p.Lys1073Asn	Somatic	0	40	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A1KYY9	Missense_Mutation	SNP	45	0	0	60	0.00	0	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.K1073N	ENST00000298139.5	37	c.3219	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116631	0.20795	.	.	ENSG00000165392	ENST00000298139	T	0.30714	1.52	5.63	-2.69	0.06022	.	0.700423	0.13492	N	0.383936	T	0.28234	0.0697	L	0.48642	1.525	0.09310	N	1	P;P	0.50528	0.936;0.935	P;P	0.51385	0.668;0.614	T	0.13415	-1.0510	10	0.36615	T	0.2	0.0289	3.7778	0.08668	0.4931:0.1025:0.3005:0.1039	.	483;1073	Q59F09;Q14191	.;WRN_HUMAN	N	1073	ENSP00000298139:K1073N	ENSP00000298139:K1073N	K	+	3	2	WRN	31118819	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.654000	0.05354	-0.567000	0.06046	0.655000	0.94253	AAG	-	NULL		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	G		-		30999277	1	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30999277	G	T	30999277	3	4	27	1	0	0	0	0	1	0	0	0	17409	1020	36	3	3317	3	WRN	8	30999277	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	9012886	30999277	115364745	31	1970											
IFNA17	3451	genome.wustl.edu	37	chr9	21227659	21227659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagagagagatctcaTgatttctgctctgacaacct	8	8	3	5			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr9:21227659T>C	ENST00000413767.2	-	1	562	c.514A>G	c.(514-516)Atg>Gtg	p.M172V		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	172					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGAGATCTCATGATTTCTGCT	0.388																																																	0								ENSG00000234829						151	188	175					9																	21227659		2195	4297	6492	IFNA17	SO:0001583	missense	0			-	HGNC		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"Interferons"	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.514A>G	9.37:g.21227659T>C	ENSP00000411940:p.Met172Val	Somatic	0	102	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	50	27.54	Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	36	0	0	31	38.00	19	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.M172V	ENST00000413767.2	37	c.514	CCDS6500.1	9	.	.	.	.	.	.	.	.	.	.	t	9.236	1.036984	0.19669	.	.	ENSG00000234829	ENST00000413767	T	0.03496	3.91	2.87	-5.74	0.02391	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.993651	0.08180	N	0.985650	T	0.07143	0.0181	M	0.87456	2.885	0.09310	N	1	B	0.27351	0.176	B	0.37047	0.24	T	0.44190	-0.9344	10	0.66056	D	0.02	.	0.2893	0.00256	0.3342:0.1475:0.1593:0.3589	.	172	P01571	IFN17_HUMAN	V	172	ENSP00000411940:M172V	ENSP00000411940:M172V	M	-	1	0	IFNA17	21217659	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	0.118000	0.15605	-1.558000	0.01690	-0.836000	0.03065	ATG	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.388	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA17	protein_coding	OTTHUMT00000051896.1	T	NM_021268	-		21227659	-1	no_errors	ENST00000413767	ensembl	human	known	74_37	missense	SNP	0.000	C	C	21227659	T	C	21227659	3	2	27	1	0	0	0	0	1	0	0	0	7538	1464	51	5	59	5	IFNA17	9	21227659	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09		21227659	119985772	32	1971											
KIAA1279	26128	genome.wustl.edu	37	chr10	70748980	70748980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcgcaggtaccggctctCgcacgactgcatctctctct	10	16	3	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr10:70748980C>T	ENST00000361983.4	+	1	494	c.392C>T	c.(391-393)tCg>tTg	p.S131L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	131					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TACCGGCTCTCGCACGACTGC	0.677																																																	0								ENSG00000198954						17	20	19					10																	70748980		2203	4296	6499	KIAA1279	SO:0001583	missense	0			-	HGNC	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.392C>T	10.37:g.70748980C>T	ENSP00000354848:p.Ser131Leu	Somatic	0	43	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	25	0	0	40	0.00	0	pfam_KBP	p.S131L	ENST00000361983.4	37	c.392	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680441	0.68042	.	.	ENSG00000198954	ENST00000361983	T	0.46063	0.88	5.62	3.63	0.41609	Tetratricopeptide-like helical (1);	0.628598	0.17527	N	0.171025	T	0.30916	0.0780	L	0.54323	1.7	0.43467	D	0.995674	P	0.44006	0.824	B	0.27887	0.084	T	0.25187	-1.0139	10	0.30078	T	0.28	-26.7439	13.4339	0.61073	0.1282:0.7585:0.1133:0.0	.	131	Q96EK5	KBP_HUMAN	L	131	ENSP00000354848:S131L	ENSP00000354848:S131L	S	+	2	0	KIAA1279	70418986	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	4.499000	0.60380	2.665000	0.90641	0.579000	0.79373	TCG	-	NULL		0.677	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	protein_coding	OTTHUMT00000048370.1	C	NM_015634	-		70748980	1	no_errors	ENST00000361983	ensembl	human	known	74_37	missense	SNP	0.989	T	T	70748980	C	T	70748980	3	4	27	1	0	0	0	0	1	0	0	0	8223	893	31	1	394	1	KIAA1279	10	70748980	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09		70748980	64785767	33	1972											
PRLHR	2834	genome.wustl.edu	37	chr10	120353829	120353829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagcccaaaggcgtaagGgtcgatggcgtgggggtcga	17	10	0	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr10:120353829G>T	ENST00000369169.1	-	1	927	c.928C>A	c.(928-930)Cct>Act	p.P310T	PRLHR_ENST00000239032.2_Missense_Mutation_p.P310T			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	310					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AAGGCGTAAGGGTCGATGGCG	0.637																																																	0								ENSG00000119973						48	47	48					10																	120353829		2203	4300	6503	PRLHR	SO:0001583	missense	0			-	HGNC	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.928C>A	10.37:g.120353829G>T	ENSP00000358167:p.Pro310Thr	Somatic	0	73	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	42	19.23	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	23	0	0	27	22.86	8	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P310T	ENST00000369169.1	37	c.928	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588096	0.28268	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.53640	0.61;0.61	4.38	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.188220	0.44902	D	0.000401	T	0.20577	0.0495	N	0.04508	-0.205	0.31653	N	0.646619	B	0.22276	0.067	B	0.27380	0.079	T	0.10109	-1.0644	10	0.21014	T	0.42	.	2.8764	0.05632	0.094:0.1413:0.4749:0.2899	.	310	P49683	PRLHR_HUMAN	T	310	ENSP00000239032:P310T;ENSP00000358167:P310T	ENSP00000239032:P310T	P	-	1	0	PRLHR	120343819	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.781000	0.55394	1.051000	0.40369	0.561000	0.74099	CCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt		0.637	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	protein_coding	OTTHUMT00000050610.1	G	NM_004248	-		120353829	-1	no_errors	ENST00000239032	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120353829	G	T	120353829	3	4	27	1	0	0	0	0	1	0	0	0	12535	1232	43	3	188	3	PRLHR	10	120353829	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	49604849	120353829	15180918	34	1973											
MKI67	4288	genome.wustl.edu	37	chr10	129910646	129910646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcttataaccaagctttGtgccttcacttccacatgga	8	11	1	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr10:129910646G>T	ENST00000368654.3	-	9	2095	c.1720C>A	c.(1720-1722)Caa>Aaa	p.Q574K	MKI67_ENST00000368653.3_Missense_Mutation_p.Q214K|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	574			Q -> P (in dbSNP:rs4471342).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACCAAGCTTTGTGCCTTCACT	0.473																																																	0								ENSG00000148773						138	145	143					10																	129910646		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1720C>A	10.37:g.129910646G>T	ENSP00000357643:p.Gln574Lys	Somatic	0	38	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	28.26	Q5VWH2	Missense_Mutation	SNP	31	0	0	36	23.40	11	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.Q574K	ENST00000368654.3	37	c.1720	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	0.907	-0.720296	0.03182	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01323	5.04;5.01	4.05	-2.6	0.06190	.	1.754660	0.03099	N	0.160782	T	0.01254	0.0041	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.46816	-0.9164	10	0.02654	T	1	.	2.4228	0.04452	0.1757:0.463:0.2126:0.1487	.	574;214;574	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	574;214;574;149	ENSP00000357643:Q574K;ENSP00000357642:Q214K	ENSP00000357641:Q149K	Q	-	1	0	MKI67	129800636	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.394000	0.20834	-0.318000	0.08665	-0.224000	0.12420	CAA	-	NULL		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129910646	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	T	T	129910646	G	T	129910646	3	4	27	1	0	0	0	0	1	0	0	0	9600	1386	48	3	8078	3	MKI67	10	129910646	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	9556817	129910646	5624101	35	1974											
MUC5B	727897	genome.wustl.edu	37	chr11	1269472	1269549	+	In_Frame_Del	DEL	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	-													cactgagaagcacagccaccAcacccacagctaccagcttt					rs368659603|rs371594853|rs564723638|rs374537167|rs368715798		TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr11:1269472_1269549delACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	ENST00000529681.1	+	31	11420_11497	c.11362_11439delACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	c.(11362-11439)acacccacagctaccagctttacagccatcccctcctcctccctgggcaccacctggacccgcctatcacagaccaccdel	p.TPTATSFTAIPSSSLGTTWTRLSQTT3788del	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_In_Frame_Del_p.TPTATSFTAIPSSSLGTTWTRLSQTT3791del	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3788	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)		CACAGCCACCACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACCACACCCACGG	0.633																																																	0								ENSG00000117983																																			MUC5B	SO:0001651	inframe_deletion	0				HGNC	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.11362_11439delACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	11.37:g.1269472_1269549delACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	ENSP00000436812:p.Thr3788_Thr3813del	Somatic					0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	In_Frame_Del	DEL							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.ATSFTAIPSSSLGTTWTRLSQTTTPT3794in_frame_del	ENST00000529681.1	37	c.11371_11448	CCDS44515.2	11																																																																																			-	NULL		0.633	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	XM_001126093			1269549	1	no_errors	ENST00000447027	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.005:0.097:0.008:0.012:0.015:0.000:0.000:0.000:0.000:0.000:0.010:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.016:0.002:0.000:0.000:0.007:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.034:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.019:0.021:0.016:0.015:0.012:0.014:0.003:0.007:0.031:0.030:0.020:0.019:0.018:0.009:0.003:0.004:0.001:0.000:0.000:0.001:0.005:0.008:0.009:0.008:0.004:0.000:0.000:0.000:0.000:0.000:0.000	-	-	1269549	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	-	1269472	7	5	27	1	0	1	0	1	0	0	0	0	9981	159	6	0	11493	0	MUC5B	11	1269472	In_Frame_Del	DEL	ACACCCACAGCTACCAGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCTATCACAGACCACC	TCGA-DX-A1L3-01A-11D-A24N-09		1269472	133737044	36	1975											
OR4D10	390197	genome.wustl.edu	37	chr11	59245419	59245419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctttctgcggacccaatGttcttgacactttctactgt	6	13	3	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr11:59245419G>A	ENST00000530162.1	+	1	574	c.517G>A	c.(517-519)Gtt>Att	p.V173I		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGACCCAATGTTCTTGACAC	0.502																																																	0								ENSG00000254466						115	114	114					11																	59245419		2201	4295	6496	OR4D10	SO:0001583	missense	0			-	HGNC	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.517G>A	11.37:g.59245419G>A	ENSP00000436424:p.Val173Ile	Somatic	0	73	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B2RNH6	Missense_Mutation	SNP	25	0	0	39	30.36	17	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V173I	ENST00000530162.1	37	c.517	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130702	0.06753	.	.	ENSG00000254466	ENST00000530162	T	0.00076	8.76	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.13140	0.3	0.09310	N	1	B	0.17038	0.02	B	0.24269	0.052	T	0.28808	-1.0032	9	0.37606	T	0.19	.	7.1501	0.25606	0.0937:0.1753:0.7309:0.0	.	173	Q8NGI6	OR4DA_HUMAN	I	173	ENSP00000436424:V173I	ENSP00000436424:V173I	V	+	1	0	OR4D10	59001995	0.000000	0.05858	0.931000	0.37212	0.038000	0.13279	0.138000	0.16016	2.311000	0.77944	0.655000	0.94253	GTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	protein_coding	OTTHUMT00000394235.1	G	NM_001004705	-		59245419	1	no_errors	ENST00000530162	ensembl	human	known	74_37	missense	SNP	0.169	A	A	59245419	G	A	59245419	3	1	27	1	0	0	0	0	1	0	0	0	11056	1377	48	2	519	2	OR4D10	11	59245419	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	57975947	59245419	75761097	37	1976											
MMP3	4314	genome.wustl.edu	37	chr11	102712894	102712894	+	Frame_Shift_Del	DEL	C	C	-													gtgtaactaacctgttgtatCctttgtccattgttcatcat							TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr11:102712894delC	ENST00000299855.5	-	4	872	c.616delG	c.(616-618)gatfs	p.D206fs		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	206					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CCTGTTGTATCCTTTGTCCAT	0.393																																																	0								ENSG00000149968						138	127	131					11																	102712894		2203	4299	6502	MMP3	SO:0001589	frameshift_variant	0				HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.616delG	11.37:g.102712894delC	ENSP00000299855:p.Asp206fs	Somatic	0	52	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	B2R8B8|Q3B7S0|Q6GRF8	Frame_Shift_Del	DEL	31	0	0	29	34.09	15	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D206fs	ENST00000299855.5	37	c.616	CCDS8323.1	11																																																																																			-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.393	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	C	NM_002422			102712894	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	frame_shift_del	DEL	0.219	-	-	102712894	C	-	102712894	7	5	27	1	0	1	0	1	0	0	0	0	9668	855	30	0	845	0	MMP3	11	102712894	Frame_Shift_Del	DEL	C	TCGA-DX-A1L3-01A-11D-A24N-09	43467475	102712894	32293622	38	1977											
ITPR2	3709	genome.wustl.edu	37	chr12	26755360	26755360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaatgcgcccccatatttttCagtaatcgttgatgttgatt	8	8	1	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:26755360C>T	ENST00000381340.3	-	28	4037	c.3621G>A	c.(3619-3621)ctG>ctA	p.L1207L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1207					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCATATTTTTCAGTAATCGTT	0.358																																																	0								ENSG00000123104						103	97	99					12																	26755360		1824	4077	5901	ITPR2	SO:0001819	synonymous_variant	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3621G>A	12.37:g.26755360C>T		Somatic	0	21	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	O94773	Silent	SNP	26	0	0	27	38.64	17	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.L1207	ENST00000381340.3	37	c.3621	CCDS41764.1	12																																																																																			-	pfam_Ca-rel_channel,superfamily_ARM-type_fold		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	C	NM_002223	-		26755360	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	silent	SNP	1.000	T	T	26755360	C	T	26755360	2	4	27	1	0	0	0	0	0	0	0	1	7923	813	29	2		2	ITPR2	12	26755360	Silent	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09		26755360	107096535	39	1978											
CPNE8	144402	genome.wustl.edu	37	chr12	39124125	39124125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccctctagaaagttccCtatagcttgttgtaaattct	6	10	2	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:39124125C>T	ENST00000331366.5	-	11	854	c.758G>A	c.(757-759)aGg>aAg	p.R253K	CPNE8_ENST00000360449.3_Missense_Mutation_p.R241K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	253						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGAAAGTTCCCTATAGCTTGT	0.279																																																	0								ENSG00000139117						91	93	92					12																	39124125		2203	4295	6498	CPNE8	SO:0001583	missense	0			-	HGNC	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.758G>A	12.37:g.39124125C>T	ENSP00000329748:p.Arg253Lys	Somatic	0	82	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84	Q2TB41|Q86VY2	Missense_Mutation	SNP	40	2.44	1	43	24.56	14	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R253K	ENST00000331366.5	37	c.758	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668869	0.47677	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.38722	1.12;1.12	4.43	4.43	0.53597	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.41236	1.265	0.58432	D	0.999992	B	0.17465	0.022	B	0.18871	0.023	T	0.12863	-1.0531	10	0.13470	T	0.59	-14.2098	16.6826	0.85296	0.0:1.0:0.0:0.0	.	253	Q86YQ8	CPNE8_HUMAN	K	253;241	ENSP00000329748:R253K;ENSP00000353633:R241K	ENSP00000329748:R253K	R	-	2	0	CPNE8	37410392	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	4.595000	0.61048	2.382000	0.81193	0.655000	0.94253	AGG	-	superfamily_C2_dom,smart_C2_dom		0.279	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	protein_coding	OTTHUMT00000403856.1	C	NM_153634	-		39124125	-1	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39124125	C	T	39124125	3	4	27	1	0	0	0	0	1	0	0	0	3820	681	24	2	976	2	CPNE8	12	39124125	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	12368765	39124125	94727770	40	1979											
ARID2	196528	genome.wustl.edu	37	chr12	46124998	46124998	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgcctgtgttttaccAggtttctgagaagaatcagt	10	7	2	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:46124998A>G	ENST00000334344.6	+	3	358		c.e3-1		ARID2_ENST00000422737.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						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)			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)		GTGTTTTACCAGGTTTCTGAG	0.378			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0								ENSG00000189079						118	122	121					12																	46124998		2203	4300	6503	ARID2	SO:0001630	splice_region_variant	0			-	HGNC		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.187-1A>G	12.37:g.46124998A>G		Somatic	0	56	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	23.81	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	43	0	0	45	31.82	21	-	e3-2	ENST00000334344.6	37	c.187-2	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553828	0.65425	.	.	ENSG00000189079	ENST00000334344	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5012	0.67722	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44411265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.707000	0.91367	1.862000	0.54008	0.529000	0.55759	.	-	-		0.378	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	A	XM_350875	-	Intron	46124998	1	no_errors	ENST00000334344	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	46124998	A	G	46124998	5	3	27	1	0	0	0	0	0	0	1	0	915	202	7	5	195	5	ARID2	12	46124998	Splice_Site	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09	7000873	46124998	87726897	41	1980											
FAM119B	25895	genome.wustl.edu	37	chr12	58168428	58168428	+	Intron	SNP	G	G	T													caaggagcttatggtctagtGagggagacagaggacgatgt							TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:58168428G>T	ENST00000300209.8	+	2	414				AC025165.1_ENST00000582738.1_RNA|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000257848.7_5'Flank|METTL21B_ENST00000333012.5_Silent_p.V102V|METTL21B_ENST00000548256.1_Silent_p.V60V|METTL1_ENST00000324871.7_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						atggtctagtgagggagacag	0.458																																																	0								ENSG00000123427						81	64	70					12																	58168428		2203	4300	6503	METTL21B	SO:0001627	intron_variant	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.289+1517G>T	12.37:g.58168428G>T		Somatic	0	37	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	143	451	24.03	Q9H749|Q9Y3W2	Silent	SNP	28	0	0	740	28.43	294	pfam_Nicotinamide_N-MeTfrase-like	p.V102	ENST00000300209.8	37	c.306	CCDS8957.1	12																																																																																			-	NULL		0.458	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	protein_coding	OTTHUMT00000409268.1	G	NM_015433	-		58168428	1	no_errors	ENST00000333012	ensembl	human	known	74_37	silent	SNP	0.010	T	T	58168428	G	T	58168428	1	4	27	0	1	0	0	0	0	0	0	0	5416	1277	45	3		3	FAM119B	12	58168428	Intron	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	12043430	58168428	75683467	42	1981	26	2	2	16		3	2	32	N	G	6.308604e-05
FAM119B	25895	genome.wustl.edu	37	chr12	58168434	58168434	+	Intron	SNP	G	G	T													gcttatggtctagtgagggaGacagaggacgatgtcataga							TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:58168434G>T	ENST00000300209.8	+	2	414				AC025165.1_ENST00000582738.1_RNA|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000257848.7_5'Flank|METTL21B_ENST00000333012.5_Missense_Mutation_p.E104D|METTL21B_ENST00000548256.1_Missense_Mutation_p.E62D|METTL1_ENST00000324871.7_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						tagtgagggagacagaggacg	0.468																																																	0								ENSG00000123427						90	70	77					12																	58168434		2203	4300	6503	METTL21B	SO:0001627	intron_variant	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.289+1523G>T	12.37:g.58168434G>T		Somatic	0	38	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	145	462	23.89	Q9H749|Q9Y3W2	Missense_Mutation	SNP	26	0	0	718	29.16	296	pfam_Nicotinamide_N-MeTfrase-like	p.E104D	ENST00000300209.8	37	c.312	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	G	2.059	-0.415733	0.04766	.	.	ENSG00000123427	ENST00000548256;ENST00000333012	T	0.13778	2.56	2.69	0.296	0.15757	.	.	.	.	.	T	0.04048	0.0113	.	.	.	0.09310	N	1	B	0.22146	0.065	B	0.22152	0.038	T	0.41822	-0.9487	8	0.02654	T	1	.	2.7765	0.05349	0.2412:0.2817:0.4771:0.0	.	104	Q96AZ1-2	.	D	62;104	ENSP00000327425:E104D	ENSP00000327425:E104D	E	+	3	2	METTL21B	56454701	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.532000	0.23067	0.062000	0.16340	0.563000	0.77884	GAG	-	NULL		0.468	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	protein_coding	OTTHUMT00000409268.1	G	NM_015433	-		58168434	1	no_errors	ENST00000333012	ensembl	human	known	74_37	missense	SNP	0.000	T	T	58168434	G	T	58168434	1	4	27	0	1	0	0	0	0	0	0	0	5416	933	33	3		3	FAM119B	12	58168434	Intron	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	6	58168434	75683461	43	1982	26	2	2	16		3	2	32	N	G	6.308604e-05
FAM119B	25895	genome.wustl.edu	37	chr12	58168459	58168459	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggacgatgtcatagaacaaGaactctggcgaggtatgcgt	13	7	2	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:58168459G>C	ENST00000300209.8	+	2	414				AC025165.1_ENST00000582738.1_RNA|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000257848.7_5'Flank|METTL21B_ENST00000333012.5_Missense_Mutation_p.E113Q|METTL21B_ENST00000548256.1_Missense_Mutation_p.E71Q|METTL1_ENST00000324871.7_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						catagaacaagaactctggcg	0.488																																																	0								ENSG00000123427						122	90	101					12																	58168459		2203	4300	6503	METTL21B	SO:0001627	intron_variant	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.289+1548G>C	12.37:g.58168459G>C		Somatic	0	38	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	177	517	25.47	Q9H749|Q9Y3W2	Missense_Mutation	SNP	24	0	0	670	29.04	275	pfam_Nicotinamide_N-MeTfrase-like	p.E113Q	ENST00000300209.8	37	c.337	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943635	0.34283	.	.	ENSG00000123427	ENST00000548256;ENST00000333012	T	0.23754	1.89	3.03	2.13	0.27403	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	1	P	0.44816	0.844	B	0.43658	0.426	T	0.12091	-1.0561	8	0.87932	D	0	.	5.8227	0.18536	0.1487:0.0:0.8513:0.0	.	113	Q96AZ1-2	.	Q	71;113	ENSP00000327425:E113Q	ENSP00000327425:E113Q	E	+	1	0	METTL21B	56454726	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-1.309000	0.02728	0.837000	0.34925	0.563000	0.77884	GAA	-	NULL		0.488	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	protein_coding	OTTHUMT00000409268.1	G	NM_015433	-		58168459	1	no_errors	ENST00000333012	ensembl	human	known	74_37	missense	SNP	0.002	C	C	58168459	G	C	58168459	1	2	27	0	1	0	0	0	0	0	0	0	5416	943	33	4		4	FAM119B	12	58168459	Intron	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	25	58168459	75683436	44	1983			2	16		3	2	32	N	G	6.308604e-05
TMTC3	160418	genome.wustl.edu	37	chr12	88582692	88582692	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccaaagaagctgaagaatCttacatgatggctaaatcac	7	8	2	4			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:88582692C>G	ENST00000266712.6	+	11	1725	c.1505C>G	c.(1504-1506)tCt>tGt	p.S502C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	502					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCTGAAGAATCTTACATGATG	0.289																																																	0								ENSG00000139324						75	80	78					12																	88582692		2203	4288	6491	TMTC3	SO:0001583	missense	0			-	HGNC		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1505C>G	12.37:g.88582692C>G	ENSP00000266712:p.Ser502Cys	Somatic	0	15	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	106	8	92.98	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	24	4	1	50	88.14	379	pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S502C	ENST00000266712.6	37	c.1505	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328788	0.60743	.	.	ENSG00000139324	ENST00000266712	T	0.59502	0.26	5.37	5.37	0.77165	.	0.102903	0.64402	D	0.000002	T	0.47377	0.1442	N	0.26162	0.8	0.58432	D	0.999997	B	0.17038	0.02	B	0.19391	0.025	T	0.34650	-0.9820	9	.	.	.	-19.0287	19.1051	0.93291	0.0:1.0:0.0:0.0	.	502	Q6ZXV5-2	.	C	502	ENSP00000266712:S502C	.	S	+	2	0	TMTC3	87106823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.305000	0.78891	2.513000	0.84729	0.655000	0.94253	TCT	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.289	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	protein_coding	OTTHUMT00000406421.1	C	NM_181783	-		88582692	1	no_errors	ENST00000266712	ensembl	human	known	74_37	missense	SNP	1.000	G	G	88582692	C	G	88582692	3	3	27	1	0	0	0	0	1	0	0	0	16269	913	32	4	1543	4	TMTC3	12	88582692	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	30414233	88582692	45269203	45	1984											
USP30	84749	genome.wustl.edu	37	chr12	109511301	109511301	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catccttttcatggaagactCactagtaatatggtctgcaa	7	9	3	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr12:109511301C>G	ENST00000257548.5	+	7	777	c.684C>G	c.(682-684)ctC>ctG	p.L228L	USP30_ENST00000392784.2_Silent_p.L197L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	228	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATGGAAGACTCACTAGTAATA	0.393																																																	0								ENSG00000135093						115	100	105					12																	109511301		2203	4300	6503	USP30	SO:0001819	synonymous_variant	0			-	HGNC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.684C>G	12.37:g.109511301C>G		Somatic	0	29	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	41	0	0	31	29.55	13	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L228	ENST00000257548.5	37	c.684	CCDS9123.2	12																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.393	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	protein_coding	OTTHUMT00000257733.2	C	NM_032663	-		109511301	1	no_errors	ENST00000257548	ensembl	human	known	74_37	silent	SNP	0.899	G	G	109511301	C	G	109511301	2	3	27	1	0	0	0	0	0	0	0	1	17068	813	29	4		4	USP30	12	109511301	Silent	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	20928609	109511301	24340594	46	1985											
SLTM	79811	genome.wustl.edu	37	chr15	59192056	59192056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctcttcatgagctgTgtgatcagcctcagctaggc	9	12	4	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr15:59192056T>C	ENST00000380516.2	-	7	757	c.670A>G	c.(670-672)Aca>Gca	p.T224A	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	224	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						TCATGAGCTGTGTGATCAGCC	0.453																																																	0								ENSG00000137776						127	111	116					15																	59192056		2192	4292	6484	SLTM	SO:0001583	missense	0			-	HGNC	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.670A>G	15.37:g.59192056T>C	ENSP00000369887:p.Thr224Ala	Somatic	0	18	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	31	0	0	37	30.19	16	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.T224A	ENST00000380516.2	37	c.670	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704138	0.15172	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.89196	-2.48;-2.48	5.89	5.89	0.94794	.	0.000000	0.56097	D	0.000022	D	0.90614	0.7057	L	0.60455	1.87	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.52793	0.709;0.709	D	0.89333	0.3648	10	0.32370	T	0.25	.	15.4723	0.75449	0.0:0.0:0.0:1.0	.	206;224	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	A	224;206	ENSP00000369887:T224A;ENSP00000249736:T206A	ENSP00000249736:T206A	T	-	1	0	SLTM	56979348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.195000	0.58400	2.251000	0.74343	0.482000	0.46254	ACA	-	NULL		0.453	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	protein_coding	OTTHUMT00000157124.1	T	NM_024755	-		59192056	-1	no_errors	ENST00000380516	ensembl	human	known	74_37	missense	SNP	1.000	C	C	59192056	T	C	59192056	3	2	27	1	0	0	0	0	1	0	0	0	14762	1696	59	5	2494	5	SLTM	15	59192056	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09		59192056	43339336	47	1986											
HERC1	8925	genome.wustl.edu	37	chr15	63952050	63952050	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaatgcgccggtcattTaaaccaagcggtccagcaag	11	11	1	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr15:63952050T>A	ENST00000443617.2	-	47	9396	c.9309A>T	c.(9307-9309)ttA>ttT	p.L3103F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3103					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)			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						GCCGGTCATTTAAACCAAGCG	0.443																																																	0								ENSG00000103657						93	86	88					15																	63952050		1901	4127	6028	HERC1	SO:0001583	missense	0			-	HGNC	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.9309A>T	15.37:g.63952050T>A	ENSP00000390158:p.Leu3103Phe	Somatic	0	76	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	Q8IW65	Missense_Mutation	SNP	25	0	0	34	26.09	12	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L3103F	ENST00000443617.2	37	c.9309	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466651	0.43839	.	.	ENSG00000103657	ENST00000443617	T	0.38240	1.15	5.65	4.53	0.55603	.	0.000000	0.64402	D	0.000020	T	0.43743	0.1261	L	0.44542	1.39	0.49687	D	0.999819	D	0.71674	0.998	D	0.78314	0.991	T	0.45877	-0.9231	10	0.44086	T	0.13	.	2.2214	0.03973	0.127:0.1423:0.1318:0.5989	.	3103	Q15751	HERC1_HUMAN	F	3103	ENSP00000390158:L3103F	ENSP00000390158:L3103F	L	-	3	2	HERC1	61739103	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.091000	0.15046	0.964000	0.38108	0.528000	0.53228	TTA	-	NULL		0.443	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	T	NM_003922	-		63952050	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	SNP	0.998	A	A	63952050	T	A	63952050	3	1	27	1	0	0	0	0	1	0	0	0	7059	1751	61	5	5404	5	HERC1	15	63952050	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09	4759994	63952050	38579342	48	1987											
MYO9A	4649	genome.wustl.edu	37	chr15	72231260	72231260	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttctgggatttttccGggttatacctagcaaaattt	10	6	1	0	rs145755030	byFrequency	TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr15:72231260G>T	ENST00000356056.5	-	16	2783	c.2311C>A	c.(2311-2313)Cgg>Agg	p.R771R	MYO9A_ENST00000444904.1_Silent_p.R752R|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.R771R|MYO9A_ENST00000424560.1_Silent_p.R771R|MYO9A_ENST00000566885.1_Silent_p.R391R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	771	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGATTTTTCCGGGTTATACCT	0.323																																																	0								ENSG00000066933						60	62	62					15																	72231260		2199	4296	6495	MYO9A	SO:0001819	synonymous_variant	0			-	HGNC	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2311C>A	15.37:g.72231260G>T		Somatic	0	36	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	30	0	0	51	0.00	0	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.R771	ENST00000356056.5	37	c.2311	CCDS10239.1	15																																																																																			-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.323	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	protein_coding	OTTHUMT00000257308.1	G	NM_006901	-		72231260	-1	no_errors	ENST00000424560	ensembl	human	known	74_37	silent	SNP	0.963	T	T	72231260	G	T	72231260	2	4	27	1	0	0	0	0	0	0	0	1	10086	1115	39	3		3	MYO9A	15	72231260	Silent	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	8279210	72231260	30300132	49	1988											
BNC1	646	genome.wustl.edu	37	chr15	83932020	83932020	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggaacttggggttccatCccaggtgtgaagtagtgttc	13	7	0	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr15:83932020C>T	ENST00000345382.2	-	4	2068	c.1983G>A	c.(1981-1983)ggG>ggA	p.G661G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.G654G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	661					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGGGTTCCATCCCAGGTGTGA	0.537																																																	0								ENSG00000169594						94	95	94					15																	83932020		2203	4300	6503	BNC1	SO:0001819	synonymous_variant	0			-	HGNC	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1983G>A	15.37:g.83932020C>T		Somatic	0	48	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.00	Q15840	Silent	SNP	30	0	0	27	32.50	13	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G661	ENST00000345382.2	37	c.1983	CCDS10324.1	15																																																																																			-	NULL		0.537	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	protein_coding	OTTHUMT00000304006.1	C	NM_001717	-		83932020	-1	no_errors	ENST00000345382	ensembl	human	known	74_37	silent	SNP	0.000	T	T	83932020	C	T	83932020	2	4	27	1	0	0	0	0	0	0	0	1	1474	842	30	2		2	BNC1	15	83932020	Silent	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09	11700760	83932020	18599372	50	1989											
RHCG	51458	genome.wustl.edu	37	chr15	90020057	90020057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggtaatctcaaaatgaGccctacagaaagttggagat	10	6	1	3			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr15:90020057G>A	ENST00000268122.4	-	9	1308	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	RHCG_ENST00000544600.1_Missense_Mutation_p.L414F	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	414					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CTCAAAATGAGCCCTACAGAA	0.532																																																	0								ENSG00000140519						91	83	86					15																	90020057		2200	4299	6499	RHCG	SO:0001583	missense	0			-	HGNC	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1240C>T	15.37:g.90020057G>A	ENSP00000268122:p.Leu414Phe	Somatic	0	30	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	29	0	0	34	27.66	13	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.L414F	ENST00000268122.4	37	c.1240	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550697	0.13374	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.25085	1.82;1.82	5.54	-11.1	0.00147	Ammonium transporter AmtB-like (3);	1.823320	0.02404	N	0.080918	T	0.10981	0.0268	N	0.17474	0.49	0.09310	N	1	B	0.16802	0.019	B	0.17979	0.02	T	0.14839	-1.0458	9	.	.	.	-1.8156	2.7534	0.05287	0.4049:0.2985:0.2076:0.089	.	414	Q9UBD6	RHCG_HUMAN	F	414;414;405	ENSP00000438123:L414F;ENSP00000268122:L414F	.	L	-	1	0	RHCG	87821061	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-3.441000	0.00470	-4.177000	0.00067	-0.312000	0.09012	CTC	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom		0.532	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	protein_coding	OTTHUMT00000312855.2	G	NM_016321	-		90020057	-1	no_errors	ENST00000268122	ensembl	human	known	74_37	missense	SNP	0.000	A	A	90020057	G	A	90020057	3	1	27	1	0	0	0	0	1	0	0	0	13334	971	34	2	207	2	RHCG	15	90020057	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	6088037	90020057	12511335	51	1990											
MYOCD	93649	genome.wustl.edu	37	chr17	12666834	12666834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggctggacctcactcCgccaaattccacaccaggct	10	15	1	0	rs139170912		TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr17:12666834C>T	ENST00000343344.4	+	13	2690	c.2690C>T	c.(2689-2691)cCg>cTg	p.P897L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.P945L			Q8IZQ8	MYCD_HUMAN	myocardin	897					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GACCTCACTCCGCCAAATTCC	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		17530	0		0	False		,,,				2504	0																0								ENSG00000141052	C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	68	61	63		2834,2690	6.1	0.9	17	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOCD	NM_001146312.1,NM_153604.2	98,98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	945/987,897/939	12666834	2,13004	2203	4300	6503	MYOCD	SO:0001583	missense	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2690C>T	17.37:g.12666834C>T	ENSP00000341835:p.Pro897Leu	Somatic	0	55	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	20	47.37	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	30	0	0	28	34.88	15	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.P945L	ENST00000343344.4	37	c.2834	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679565	0.68042	2.27E-4	1.16E-4	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.46451	0.89;0.87	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.49542	-0.8929	10	0.02654	T	1	-20.3272	19.4349	0.94788	0.0:1.0:0.0:0.0	.	621;945;897	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	621;945;897;607	ENSP00000341835:P897L;ENSP00000400148:P607L	ENSP00000341835:P897L	P	+	2	0	MYOCD	12607559	1.000000	0.71417	0.946000	0.38457	0.430000	0.31655	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	CCG	-	NULL		0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	C	NM_153604	rs139170912		12666834	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12666834	C	T	12666834	3	4	27	1	0	0	0	0	1	0	0	0	10089	652	23	1	2900	1	MYOCD	17	12666834	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09		12666834	68528376	52	1991											
PROCA1	6830	genome.wustl.edu	37	chr17	27031194	27031194	+	IGR	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcatggtagagtggatggtgGatcactgccacagagacagg	15	7	2	2			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr17:27031194G>C	ENST00000314616.6	+	0	6518				PROCA1_ENST00000439862.3_Missense_Mutation_p.I133M|PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000301039.2_Missense_Mutation_p.I131M|PROCA1_ENST00000579650.1_5'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGGATGGTGGATCACTGCCA	0.577																																																	0								ENSG00000167525						30	33	32					17																	27031194		2203	4294	6497	PROCA1	SO:0001628	intergenic_variant	0			-	HGNC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031194G>C		Somatic	0	39	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	31	0	0	30	14.29	5	pfam_PLipase_A2,superfamily_PLipase_A2_dom	p.I133M	ENST00000314616.6	37	c.399	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352552	0.41700	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.05717	3.4;3.4	4.75	1.66	0.24008	Phospholipase A2 (2);	0.208186	0.41194	D	0.000928	T	0.14614	0.0353	L	0.50333	1.59	0.32285	N	0.567031	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.974;0.974	T	0.06215	-1.0839	10	0.72032	D	0.01	-14.3511	6.1363	0.20235	0.3285:0.0:0.6715:0.0	.	159;133;131	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	M	131;133;159;133	ENSP00000301039:I131M;ENSP00000411400:I133M	ENSP00000301039:I131M	I	-	3	3	PROCA1	24055321	1.000000	0.71417	0.997000	0.53966	0.522000	0.34438	0.963000	0.29293	0.201000	0.20466	0.650000	0.86243	ATC	-	superfamily_PLipase_A2_dom		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROCA1	protein_coding	OTTHUMT00000446422.2	G	NM_003170	-		27031194	-1	no_errors	ENST00000439862	ensembl	human	known	74_37	missense	SNP	0.996	C	C	27031194	G	C	27031194	1	2	27	0	1	0	0	0	0	0	0	0	12551	1164	41	4		4	PROCA1	17	27031194	IGR	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	14364360	27031194	54164016	53	1992											
UHRF1	29128	genome.wustl.edu	37	chr19	4932853	4932853	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgggccaggtggtcAtgctcaactacaaccccgac	13	12	2	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr19:4932853A>C	ENST00000592666.1	+	0	1246				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCAGGTGGTCATGCTCAACTA	0.652																																																	0								ENSG00000034063						51	63	59					19																	4932853		2075	4201	6276	UHRF1			0			-	HGNC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4932853A>C		Somatic	0	83	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	167	64	72.29	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	28	0	0	37	85.32	215	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457815	0.84317	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	5.21	5.21	0.72293	Domain of unknown function DUF3590 (1);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.65975	2.015	0.42674	D	0.993522	P;B	0.45348	0.856;0.444	P;B	0.60949	0.881;0.405	T	0.77579	-0.2535	8	0.39692	T	0.17	-3.6619	15.0704	0.72030	1.0:0.0:0.0:0.0	.	237;224	Q2HIX7;Q96T88	.;UHRF1_HUMAN	L	224;224;224;237	.	ENSP00000262952:M224L	M	+	1	0	UHRF1	4883853	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.131000	0.94446	1.972000	0.57404	0.459000	0.35465	ATG	-	-		0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	processed_transcript	OTTHUMT00000450444.1	A	NM_001048201	-		4932853	1	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	SNP	1.000	C	C	4932853	A	C	4932853	1	2	27	0	1	0	0	0	0	0	0	0	16974	217	8	5		5	UHRF1	19	4932853	RNA	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09		4932853	54196130	54	1993											
ZNRF4	148066	genome.wustl.edu	37	chr19	5456046	5456046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgcgccggcttcgagGcggccatcgtgcacaacgtc	13	17	0	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr19:5456046G>A	ENST00000222033.4	+	1	621	c.544G>A	c.(544-546)Gcg>Acg	p.A182T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	182	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGGCTTCGAGGCGGCCATCGT	0.652																																																	0								ENSG00000105428						42	44	44					19																	5456046		2136	4245	6381	ZNRF4	SO:0001583	missense	0			-	HGNC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.544G>A	19.37:g.5456046G>A	ENSP00000222033:p.Ala182Thr	Somatic	0	32	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	A8K886|O75866	Missense_Mutation	SNP	25	0	0	24	31.43	11	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A182T	ENST00000222033.4	37	c.544	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604191	0.66445	.	.	ENSG00000105428	ENST00000222033	T	0.12569	2.67	4.65	4.65	0.58169	Protease-associated domain, PA (1);	0.000000	0.85682	U	0.000000	T	0.50154	0.1599	H	0.96239	3.79	0.45118	D	0.998136	D	0.89917	1.0	D	0.80764	0.994	T	0.67138	-0.5746	10	0.87932	D	0	-20.7566	14.2204	0.65823	0.0:0.0:1.0:0.0	.	182	Q8WWF5	ZNRF4_HUMAN	T	182	ENSP00000222033:A182T	ENSP00000222033:A182T	A	+	1	0	ZNRF4	5407046	0.962000	0.33011	0.049000	0.19019	0.429000	0.31625	3.865000	0.56033	2.140000	0.66376	0.491000	0.48974	GCG	-	pfam_Protease-assoc_domain		0.652	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	protein_coding	OTTHUMT00000450924.1	G	NM_181710	-		5456046	1	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	SNP	0.748	A	A	5456046	G	A	5456046	3	1	27	1	0	0	0	0	1	0	0	0	18221	1203	42	2	546	2	ZNRF4	19	5456046	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	523193	5456046	53672937	55	1994											
CHERP	84167	genome.wustl.edu	37	chr19	16630497	16630497	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagtcagggatgggaggcGccgaattagaacccagacca	14	9	1	3			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr19:16630497G>T	ENST00000221671.3	+	9	2170				CHERP_ENST00000198939.6_Missense_Mutation_p.A842E|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.A831E	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GATGGGAGGCGCCGAATTAGA	0.502																																																	0								ENSG00000085872						167	177	174					19																	16630497		1949	4133	6082	CHERP	SO:0001627	intron_variant	0			-	HGNC	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-408G>T	19.37:g.16630497G>T		Somatic	0	55	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q8N6Y7	Missense_Mutation	SNP	28	0	0	43	0.00	0	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A831E	ENST00000221671.3	37	c.2492	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869733	0.51588	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.24723	1.84;1.86	5.0	3.89	0.44902	.	.	.	.	.	T	0.22166	0.0534	L	0.47716	1.5	0.42723	D	0.993687	P	0.47350	0.894	B	0.36959	0.237	T	0.15093	-1.0449	9	0.72032	D	0.01	-7.0987	13.5499	0.61726	0.0:0.2407:0.7592:0.0	.	831	Q8IWX8	CHERP_HUMAN	E	831;842	ENSP00000439856:A831E;ENSP00000198939:A842E	ENSP00000198939:A842E	A	-	2	0	CHERP	16491497	0.996000	0.38824	0.996000	0.52242	0.908000	0.53690	3.405000	0.52630	2.320000	0.78422	0.561000	0.74099	GCG	-	NULL		0.502	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	protein_coding	OTTHUMT00000461218.1	G	NM_032207	-		16630497	-1	no_errors	ENST00000546361	ensembl	human	known	74_37	missense	SNP	0.968	T	T	16630497	G	T	16630497	1	4	27	0	1	0	0	0	0	0	0	0	3338	1087	38	3		3	CHERP	19	16630497	Intron	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	11174451	16630497	42498486	56	1995											
KLHL26	55295	genome.wustl.edu	37	chr19	18779660	18779660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgctacgaccccgtgGccgaccagtgggagttcaag	13	13	1	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr19:18779660G>T	ENST00000300976.4	+	3	1543	c.1453G>T	c.(1453-1455)Gcc>Tcc	p.A485S	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	485										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGACCCCGTGGCCGACCAGTG	0.692																																																	0								ENSG00000167487						36	39	38					19																	18779660		2203	4299	6502	KLHL26	SO:0001583	missense	0			-	HGNC		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1453G>T	19.37:g.18779660G>T	ENSP00000300976:p.Ala485Ser	Somatic	0	26	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	21	0	0	45	0.00	0	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A485S	ENST00000300976.4	37	c.1453	CCDS12384.1	19	.	.	.	.	.	.	.	.	.	.	G	1.129	-0.652881	0.03480	.	.	ENSG00000167487	ENST00000300976	T	0.64803	-0.12	4.63	2.44	0.29823	Galactose oxidase, beta-propeller (1);	0.570617	0.17974	N	0.155741	T	0.37892	0.1020	N	0.11023	0.085	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18871	-1.0323	9	.	.	.	.	8.7111	0.34385	0.0842:0.1525:0.7632:0.0	.	485	Q53HC5	KLH26_HUMAN	S	485	ENSP00000300976:A485S	.	A	+	1	0	KLHL26	18640660	0.000000	0.05858	0.006000	0.13384	0.501000	0.33797	0.174000	0.16743	0.374000	0.24650	0.563000	0.77884	GCC	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.692	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	protein_coding	OTTHUMT00000465145.1	G	NM_018316	-		18779660	1	no_errors	ENST00000300976	ensembl	human	known	74_37	missense	SNP	0.000	T	T	18779660	G	T	18779660	3	4	27	1	0	0	0	0	1	0	0	0	8383	1203	42	3	1463	3	KLHL26	19	18779660	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	2149163	18779660	40349323	57	1996											
CEACAM20	125931	genome.wustl.edu	37	chr19	45029180	45029180	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgggggtcccaaacacAggcagaacaacatcctcact	9	14	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr19:45029180A>T	ENST00000454753.1	-	0	428							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCCCAAACACAGGCAGAACAA	0.557																																																	0								ENSG00000176395						113	119	117					19																	45029180		2043	4193	6236	CEACAM20			0			-	HGNC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029180A>T		Somatic	0	67	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70		RNA	SNP	15	0	0	41	8.89	4	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			-	-		0.557	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	processed_transcript	OTTHUMT00000323032.1	A	NM_198444	-		45029180	-1	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	SNP	0.001	T	T	45029180	A	T	45029180	1	4	27	0	1	0	0	0	0	0	0	0	3193	175	7	5		5	CEACAM20	19	45029180	RNA	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09	26249520	45029180	14099803	58	1997											
ZNF610	162963	genome.wustl.edu	37	chr19	52869387	52869387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgtagaacattggagAattcatactggacagaagcc	9	9	1	3			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr19:52869387A>C	ENST00000403906.3	+	6	1212	c.756A>C	c.(754-756)agA>agC	p.R252S	ZNF610_ENST00000321287.8_Missense_Mutation_p.R252S|ZNF610_ENST00000601151.1_Missense_Mutation_p.R209S|ZNF610_ENST00000327920.8_Missense_Mutation_p.R252S	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	252					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AACATTGGAGAATTCATACTG	0.388																																																	0								ENSG00000167554						59	59	59					19																	52869387		2203	4300	6503	ZNF610	SO:0001583	missense	0			-	HGNC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.756A>C	19.37:g.52869387A>C	ENSP00000383922:p.Arg252Ser	Somatic	0	41	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	29	0	0	37	30.19	16	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R252S	ENST00000403906.3	37	c.756	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	A	8.436	0.849767	0.17034	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.24151	1.87;1.87	1.82	-0.804	0.10882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21841	0.0526	L	0.49699	1.58	0.09310	N	1	P;P	0.51147	0.932;0.942	B;B	0.41510	0.359;0.334	T	0.09751	-1.0660	9	0.62326	D	0.03	.	7.7639	0.28968	0.6695:0.0:0.3305:0.0	.	209;252	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	S	252;209;252	ENSP00000383922:R252S;ENSP00000327597:R252S	ENSP00000324441:R209S	R	+	3	2	ZNF610	57561199	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.588000	0.05774	-1.267000	0.02443	-1.486000	0.00981	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	protein_coding	OTTHUMT00000462880.1	A	NM_173530	-		52869387	1	no_errors	ENST00000321287	ensembl	human	known	74_37	missense	SNP	0.004	C	C	52869387	A	C	52869387	3	2	27	1	0	0	0	0	1	0	0	0	18043	243	9	5	770	5	ZNF610	19	52869387	Missense_Mutation	SNP	A	TCGA-DX-A1L3-01A-11D-A24N-09	7840207	52869387	6259596	59	1998											
SIRPB1	10326	genome.wustl.edu	37	chr20	1546901	1546901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaggagtggagcagtaggaGccagcgctgcttctggaaat	16	8	1	0			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr20:1546901G>T	ENST00000381605.4	-	5	1161	c.1097C>A	c.(1096-1098)gCt>gAt	p.A366D	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Missense_Mutation_p.A148D|SIRPB1_ENST00000381603.3_Missense_Mutation_p.A149D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	366					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCAGTAGGAGCCAGCGCTGC	0.597																																																	0								ENSG00000101307						44	38	40					20																	1546901		2203	4300	6503	SIRPB1	SO:0001583	missense	0			-	HGNC	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1097C>A	20.37:g.1546901G>T	ENSP00000371018:p.Ala366Asp	Somatic	0	25	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	30	0	0	38	0.00	0	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A366D	ENST00000381605.4	37	c.1097	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	10.75	1.437612	0.25900	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02369	4.35;4.32;4.32	3.84	0.633	0.17712	.	2.776880	0.01837	N	0.035040	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	P;B	0.34462	0.454;0.144	B;B	0.27887	0.084;0.056	T	0.34725	-0.9817	10	0.59425	D	0.04	.	3.2622	0.06853	0.2344:0.0:0.5595:0.2062	.	366;149	O00241;O00241-2	SIRB1_HUMAN;.	D	366;149;148	ENSP00000371018:A366D;ENSP00000371016:A149D;ENSP00000262929:A148D	ENSP00000262929:A148D	A	-	2	0	SIRPB1	1494901	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.178000	0.09782	0.276000	0.22118	0.563000	0.77884	GCT	-	NULL		0.597	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	protein_coding	OTTHUMT00000077555.2	G	NM_006065	-		1546901	-1	no_errors	ENST00000381605	ensembl	human	known	74_37	missense	SNP	0.001	T	T	1546901	G	T	1546901	3	4	27	1	0	0	0	0	1	0	0	0	14341	971	34	3	103	3	SIRPB1	20	1546901	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09		1546901	61478619	60	1999											
LRRN4	164312	genome.wustl.edu	37	chr20	6022395	6022395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtgtgtcctctggccgGgctgaggcgagcttatgctg	17	10	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chr20:6022395G>A	ENST00000378858.4	-	5	1720	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	499					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCTCTGGCCGGGCTGAGGCGA	0.632																																																	0								ENSG00000125872						107	116	113					20																	6022395		2203	4300	6503	LRRN4	SO:0001583	missense	0			-	HGNC	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1496C>T	20.37:g.6022395G>A	ENSP00000368135:p.Pro499Leu	Somatic	0	61	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	25	41.86	A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	29	0	0	26	25.71	9	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P499L	ENST00000378858.4	37	c.1496	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416316	0.25552	.	.	ENSG00000125872	ENST00000378858	T	0.55588	0.51	5.15	0.728	0.18260	.	1.382890	0.04748	N	0.424005	T	0.29588	0.0738	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.26693	0.072	T	0.10177	-1.0641	10	0.09338	T	0.73	-9.0079	2.5398	0.04722	0.1708:0.1446:0.5359:0.1488	.	499	Q8WUT4	LRRN4_HUMAN	L	499	ENSP00000368135:P499L	ENSP00000368135:P499L	P	-	2	0	LRRN4	5970395	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.318000	0.08050	0.148000	0.19059	-0.305000	0.09177	CCC	-	NULL		0.632	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	protein_coding	OTTHUMT00000077907.2	G	NM_152611	-		6022395	-1	no_errors	ENST00000378858	ensembl	human	known	74_37	missense	SNP	0.000	A	A	6022395	G	A	6022395	3	1	27	1	0	0	0	0	1	0	0	0	9039	1232	43	2	730	2	LRRN4	20	6022395	Missense_Mutation	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	4475494	6022395	57003125	61	2000											
CUL4B	8450	genome.wustl.edu	37	chrX	119672572	119672572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagatgcactctttccgaCtaacaggcgcttggctaaat	8	11	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chrX:119672572C>A	ENST00000404115.3	-	15	2250	c.1849G>T	c.(1849-1851)Gtc>Ttc	p.V617F	CUL4B_ENST00000336592.6_Missense_Mutation_p.V604F|CUL4B_ENST00000371322.5_Missense_Mutation_p.V599F	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	617					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTTTCCGACTAACAGGCGC	0.343																																																	0								ENSG00000158290						108	107	107					X																	119672572		2203	4300	6503	CUL4B	SO:0001583	missense	0			-	HGNC	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1849G>T	X.37:g.119672572C>A	ENSP00000384109:p.Val617Phe	Somatic	0	74	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	52	31.58	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	41	0	0	44	33.33	22	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.V617F	ENST00000404115.3	37	c.1849	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547096	0.65311	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73363	-0.74;-0.74;-0.74	5.51	4.62	0.57501	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.29908	0.895	0.80722	D	1	B;D;D	0.69078	0.03;0.997;0.997	B;D;D	0.74023	0.031;0.982;0.969	T	0.75602	-0.3261	9	.	.	.	-16.5321	13.4952	0.61421	0.1562:0.8438:0.0:0.0	.	421;617;599	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	F	599;604;617	ENSP00000360373:V599F;ENSP00000338919:V604F;ENSP00000384109:V617F	.	V	-	1	0	CUL4B	119556600	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.066000	0.71185	2.315000	0.78130	0.594000	0.82650	GTC	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	protein_coding	OTTHUMT00000058103.1	C	NM_003588	-		119672572	-1	no_errors	ENST00000404115	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119672572	C	A	119672572	3	1	27	1	0	0	0	0	1	0	0	0	4060	565	20	3	924	3	CUL4B	23	119672572	Missense_Mutation	SNP	C	TCGA-DX-A1L3-01A-11D-A24N-09		119672572	35597988	62	2001											
TFDP3	51270	genome.wustl.edu	37	chrX	132351355	132351355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccattttaaggtcttcGgcagagcagctcccggactc	11	13	1	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chrX:132351355G>A	ENST00000310125.4	-	1	1021	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	311					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)					TAAGGTCTTCGGCAGAGCAGC	0.498																																																	0								ENSG00000183434						64	65	65					X																	132351355		2202	4298	6500	TFDP3	SO:0001819	synonymous_variant	0			-	HGNC	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.933C>T	X.37:g.132351355G>A		Somatic	0	40	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q6DK49|Q9NZ54	Silent	SNP	28	0	0	29	38.30	18	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.A311	ENST00000310125.4	37	c.933	CCDS14636.2	X																																																																																			-	pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP		0.498	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	protein_coding	OTTHUMT00000058337.1	G	NM_016521	-		132351355	-1	no_errors	ENST00000310125	ensembl	human	known	74_37	silent	SNP	0.998	A	A	132351355	G	A	132351355	2	1	27	1	0	0	0	0	0	0	0	1	15806	1103	39	1		1	TFDP3	23	132351355	Silent	SNP	G	TCGA-DX-A1L3-01A-11D-A24N-09	12678783	132351355	22919205	63	2002											
CXorf40A	91966	genome.wustl.edu	37	chrX	148628297	148628297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacaggactcgttgacaTtggggaaactttgcaatgcc	12	8	0	1			TCGA-DX-A1L3-01A-11D-A24N-09	TCGA-DX-A1L3-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ec066e-8510-4921-9e35-45d85fb01e38	7f34c3a1-efee-47c6-bd61-502061fec7e3	g.chrX:148628297T>G	ENST00000441248.1	+	4	1853	c.266T>G	c.(265-267)aTt>aGt	p.I89S	RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000393985.3_Missense_Mutation_p.I89S|CXorf40A_ENST00000359293.5_Missense_Mutation_p.I89S|CXorf40A_ENST00000428236.1_Missense_Mutation_p.I27S|CXorf40A_ENST00000514208.1_Missense_Mutation_p.I89S|CXorf40A_ENST00000423421.1_Missense_Mutation_p.I89S|CXorf40A_ENST00000434353.2_Missense_Mutation_p.I89S|CXorf40A_ENST00000423540.2_Missense_Mutation_p.I89S|CXorf40A_ENST00000422892.2_Missense_Mutation_p.I89S|CXorf40A_ENST00000450602.2_Missense_Mutation_p.I89S			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	89										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTCGTTGACATTGGGGAAACT	0.463																																																	0								ENSG00000197620						15	12	13					X																	148628297		2165	4209	6374	CXorf40A	SO:0001583	missense	0			-	HGNC	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"endothelial-overexpressed lipopolysaccharide-associated factor 1"		"chromosome X open reading frame 40"	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.266T>G	X.37:g.148628297T>G	ENSP00000423099:p.Ile89Ser	Somatic	0	76	0		0.625322336964708				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	24	0	0	18	33.33	9	superfamily_PUA-like_domain	p.I89S	ENST00000441248.1	37	c.266	CCDS14687.1	X	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313472	0.40996	.	.	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000428236;ENST00000422892;ENST00000359293	T;T;T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	4.16	4.16	0.48862	PUA-like domain (1);	0.428711	0.25792	N	0.028276	T	0.30324	0.0761	M	0.67953	2.075	0.40909	D	0.984218	P;P;P	0.52061	0.95;0.828;0.899	P;B;B	0.48227	0.571;0.395;0.395	T	0.19418	-1.0306	10	0.87932	D	0	.	11.7887	0.52057	0.0:0.0:0.0:1.0	.	89;89;89	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	S	89;89;89;89;89;89;89;27;89;89	ENSP00000427540:I89S;ENSP00000423099:I89S;ENSP00000421745:I89S;ENSP00000422512:I89S;ENSP00000425520:I89S;ENSP00000423160:I89S;ENSP00000423708:I89S;ENSP00000426158:I27S;ENSP00000422312:I89S;ENSP00000420882:I89S	ENSP00000420882:I89S	I	+	2	0	CXorf40A	148436202	0.979000	0.34478	0.006000	0.13384	0.110000	0.19582	3.279000	0.51670	1.639000	0.50556	0.446000	0.29264	ATT	-	superfamily_PUA-like_domain		0.463	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40A	protein_coding	OTTHUMT00000058699.3	T	NM_178124	-		148628297	1	no_errors	ENST00000359293	ensembl	human	known	74_37	missense	SNP	0.893	G	G	148628297	T	G	148628297	3	3	27	1	0	0	0	0	1	0	0	0	4110	1493	52	5	272	5	CXorf40A	23	148628297	Missense_Mutation	SNP	T	TCGA-DX-A1L3-01A-11D-A24N-09	16276942	148628297	6642263	64	2003											
CDC7	8317	genome.wustl.edu	37	chr1	91977217	91977217	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcatgtagttattgcTatgccatatctggagcatga	9	6	2	2			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr1:91977217T>A	ENST00000428239.1	+	5	658	c.399T>A	c.(397-399)gcT>gcA	p.A133A	CDC7_ENST00000430031.2_Silent_p.A105A|CDC7_ENST00000234626.6_Silent_p.A133A	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TAGTTATTGCTATGCCATATC	0.313																																																	0								ENSG00000097046						205	206	206					1																	91977217		2203	4300	6503	CDC7	SO:0001819	synonymous_variant	0			-	HGNC	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.399T>A	1.37:g.91977217T>A		Somatic	0	43	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	91	9.90	D3DT31|O00558|Q5T5U5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A133	ENST00000428239.1	37	c.399	CCDS734.1	1																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.313	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	protein_coding	OTTHUMT00000027928.1	T	NM_003503	-		91977217	1	no_errors	ENST00000234626	ensembl	human	known	74_37	silent	SNP	0.984	A	A	91977217	T	A	91977217	2	1	28	1	0	0	0	0	0	0	0	1	3086	1509	53	5		5	CDC7	1	91977217	Silent	SNP	T	TCGA-DX-A1L4-01A-12D-A26G-09		91977217	157273404	1	2004											
ETV3	2117	genome.wustl.edu	37	chr1	157105270	157105270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttccttacctgagggCccggctcagcttgtcataat	8	13	2	1			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr1:157105270C>T	ENST00000368192.4	-	3	341	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.A93T	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	93					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)				TACCTGAGGGCCCGGCTCAGC	0.468																																																	0								ENSG00000117036						62	63	63					1																	157105270		2203	4300	6503	ETV3	SO:0001583	missense	0			-	HGNC	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.277G>A	1.37:g.157105270C>T	ENSP00000357175:p.Ala93Thr	Somatic	0	62	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	104	9.57	B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.A93T	ENST00000368192.4	37	c.277	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830626	0.91036	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.71817	-0.6;-0.6	5.47	5.47	0.80525	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000001	D	0.85784	0.5777	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88370	0.2994	10	0.87932	D	0	.	18.0939	0.89482	0.0:1.0:0.0:0.0	.	93;93	P41162-2;P41162	.;ETV3_HUMAN	T	93	ENSP00000357175:A93T;ENSP00000327316:A93T	ENSP00000327316:A93T	A	-	1	0	ETV3	155371894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.566000	0.86566	0.655000	0.94253	GCC	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom		0.468	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	protein_coding	OTTHUMT00000082843.2	C	NM_005240	-		157105270	-1	no_errors	ENST00000368192	ensembl	human	known	74_37	missense	SNP	1.000	T	T	157105270	C	T	157105270	3	4	28	1	0	0	0	0	1	0	0	0	5281	739	26	2	1305	2	ETV3	1	157105270	Missense_Mutation	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09	65128053	157105270	92145351	2	2005											
KLHL18	23276	genome.wustl.edu	37	chr3	47385390	47385390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccatggcgtgccatgagGgaggggtcggtgtgggctgc	19	11	0	1			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr3:47385390G>A	ENST00000232766.5	+	10	1704	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	KLHL18_ENST00000455924.2_Missense_Mutation_p.G450R	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	562										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)		GTGCCATGAGGGAGGGGTCGG	0.582																																																	0								ENSG00000114648						98	96	96					3																	47385390		2203	4300	6503	KLHL18	SO:0001583	missense	0			-	HGNC	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.1684G>A	3.37:g.47385390G>A	ENSP00000232766:p.Gly562Arg	Somatic	0	12	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G562R	ENST00000232766.5	37	c.1684	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615040	0.87359	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.74842	-0.73;-0.88	5.15	4.28	0.50868	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80801	-0.1220	10	0.31617	T	0.26	.	12.7299	0.57193	0.0784:0.0:0.9216:0.0	.	562	O94889	KLH18_HUMAN	R	562;450	ENSP00000232766:G562R;ENSP00000405585:G450R	ENSP00000232766:G562R	G	+	1	0	KLHL18	47360394	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	9.587000	0.98229	1.412000	0.46977	0.561000	0.74099	GGA	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.582	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	protein_coding	OTTHUMT00000344493.1	G	NM_025010	-		47385390	1	no_errors	ENST00000232766	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47385390	G	A	47385390	3	1	28	1	0	0	0	0	1	0	0	0	8375	1233	43	2	1722	2	KLHL18	3	47385390	Missense_Mutation	SNP	G	TCGA-DX-A1L4-01A-12D-A26G-09		47385390	150637040	3	2006											
HEG1	57493	genome.wustl.edu	37	chr3	124732419	124732419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccctgaagaagaagaAgaggaggaggaggaagagga	20	3	0	6	rs202026679|rs540539937|rs376430192		TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr3:124732419A>G	ENST00000311127.4	-	6	2071	c.2004T>C	c.(2002-2004)tcT>tcC	p.S668S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	668	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						aagaagaagaagaggaggagg	0.488																																																	0								ENSG00000173706						51	56	55					3																	124732419		2137	4243	6380	HEG1	SO:0001819	synonymous_variant	0			-	HGNC	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2004T>C	3.37:g.124732419A>G		Somatic	0	16	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP							pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.S668	ENST00000311127.4	37	c.2004	CCDS46898.1	3																																																																																			-	NULL		0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	protein_coding	OTTHUMT00000355732.2	A	XM_087386	rs202026679		124732419	-1	no_errors	ENST00000311127	ensembl	human	known	74_37	silent	SNP	0.028	G	G	124732419	A	G	124732419	2	3	28	1	0	0	0	0	0	0	0	1	7046	59	3	5		5	HEG1	3	124732419	Silent	SNP	A	TCGA-DX-A1L4-01A-12D-A26G-09	77347029	124732419	73290011	4	2007											
PDLIM3	27295	genome.wustl.edu	37	chr4	186427772	186427772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtggagcatccggtacaCgtccgactcggggggcaccg	16	13	0	0	rs143121072		TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr4:186427772C>T	ENST00000284770.5	-	6	770	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	PDLIM3_ENST00000284771.6_Missense_Mutation_p.V185M|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	233					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ATCCGGTACACGTCCGACTCG	0.647																																																	0								ENSG00000154553						64	57	59					4																	186427772		2203	4300	6503	PDLIM3	SO:0001583	missense	0			-	HGNC	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.697G>A	4.37:g.186427772C>T	ENSP00000284770:p.Val233Met	Somatic	0	38	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	85	16.67	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP							pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.V233M	ENST00000284770.5	37	c.697	CCDS3844.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791460	0.90367	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.51325	0.71;1.52	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.78630	-0.2129	10	0.87932	D	0	-22.9268	19.9991	0.97403	0.0:1.0:0.0:0.0	.	185;233	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	M	233;185	ENSP00000284770:V233M;ENSP00000284771:V185M	ENSP00000284770:V233M	V	-	1	0	PDLIM3	186664766	1.000000	0.71417	0.970000	0.41538	0.504000	0.33889	7.818000	0.86416	2.724000	0.93272	0.655000	0.94253	GTG	-	NULL		0.647	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	protein_coding	OTTHUMT00000360499.2	C	NM_014476	-		186427772	-1	no_errors	ENST00000284770	ensembl	human	known	74_37	missense	SNP	1.000	T	T	186427772	C	T	186427772	3	4	28	1	0	0	0	0	1	0	0	0	11683	536	19	1	409	1	PDLIM3	4	186427772	Missense_Mutation	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09		186427772	4726504	5	2008											
C6orf105	84830	genome.wustl.edu	37	chr6	11714728	11714728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattacttcctcttcttccGtggctgcctcatgtcacctg	6	15	4	0			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr6:11714728G>A	ENST00000414691.3	-	6	1086	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	ADTRP_ENST00000229583.5_Missense_Mutation_p.R244W|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCTTCTTCCGTGGCTGCCTC	0.413																																																	0								ENSG00000111863						144	138	140					6																	11714728		2203	4300	6503	ADTRP	SO:0001583	missense	0			-	HGNC	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.676C>T	6.37:g.11714728G>A	ENSP00000404416:p.Arg226Trp	Somatic	0	77	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	111	10.48	B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP							pfam_Far-17a_AIG1	p.R244W	ENST00000414691.3	37	c.730	CCDS4521.1	6	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835963	0.71373	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	T;T	0.33216	1.43;1.42	6.15	-2.23	0.06930	.	.	.	.	.	T	0.12347	0.0300	L	0.53249	1.67	0.18873	N	0.999987	D;B	0.60160	0.987;0.005	P;B	0.46825	0.528;0.001	T	0.07385	-1.0775	9	0.66056	D	0.02	.	1.3421	0.02156	0.2376:0.0981:0.2128:0.4515	.	244;226	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	W	226;244	ENSP00000404416:R226W;ENSP00000229583:R244W	ENSP00000229583:R244W	R	-	1	2	C6orf105	11822714	0.000000	0.05858	0.000000	0.03702	0.624000	0.37722	-0.905000	0.04075	-0.388000	0.07797	-0.148000	0.13756	CGG	-	NULL		0.413	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	protein_coding	OTTHUMT00000039864.3	G	NM_032744	-		11714728	-1	no_errors	ENST00000229583	ensembl	human	known	74_37	missense	SNP	0.000	A	A	11714728	G	A	11714728	3	1	28	1	0	0	0	0	1	0	0	0	2320	1144	40	1	20	1	C6orf105	6	11714728	Missense_Mutation	SNP	G	TCGA-DX-A1L4-01A-12D-A26G-09		11714728	159400339	6	2009											
HLA-F	3134	genome.wustl.edu	37	chr6	29692901	29692901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaccctgcggagatcaCgctgacctggcagcgggatg	13	13	2	2			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr6:29692901C>T	ENST00000376861.1	+	5	1088	c.704C>T	c.(703-705)aCg>aTg	p.T235M	HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000334668.4_Missense_Mutation_p.T235M|HLA-F_ENST00000440587.2_Missense_Mutation_p.T117M|HLA-F_ENST00000259951.7_Missense_Mutation_p.T235M			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	235	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGAGATCACGCTGACCTGG	0.627																																																	0								ENSG00000204642						54	50	51					6																	29692901		2203	4300	6503	HLA-F	SO:0001583	missense	0			-	HGNC	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.704C>T	6.37:g.29692901C>T	ENSP00000366057:p.Thr235Met	Somatic	0	90	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	144	15.20	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.T235M	ENST00000376861.1	37	c.704	CCDS43438.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.352|8.352	0.831018|0.831018	0.16820|0.16820	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000429294|ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587	.|T;T;T;T	.|0.03181	.|4.02;4.02;4.02;4.02	1.92|1.92	1.92|1.92	0.25849|0.25849	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|1.013100	.|0.07958	.|U	.|0.981985	T|T	0.03739|0.03739	0.0106|0.0106	M|M	0.83692|0.83692	2.655|2.655	0.19575|0.19575	N|N	0.999965|0.999965	.|P;D;D	.|0.89917	.|0.943;0.982;1.0	.|B;B;P	.|0.45913	.|0.276;0.274;0.497	T|T	0.38156|0.38156	-0.9674|-0.9674	5|10	.|0.87932	.|D	.|0	.|.	7.2321|7.2321	0.26049|0.26049	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235;235;235	.|A8MVU7;P30511;P30511-3	.|.;HLAF_HUMAN;.	C|M	114|235;212;235;235;149;117	.|ENSP00000366057:T235M;ENSP00000334263:T235M;ENSP00000259951:T235M;ENSP00000404130:T117M	.|ENSP00000259951:T235M	R|T	+|+	1|2	0|0	HLA-F|HLA-F	29800880|29800880	0.000000|0.000000	0.05858|0.05858	0.719000|0.719000	0.30619|0.30619	0.313000|0.313000	0.28021|0.28021	-0.045000|-0.045000	0.12003|0.12003	1.046000|1.046000	0.40249|0.40249	0.436000|0.436000	0.28706|0.28706	CGC|ACG	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.627	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	protein_coding	OTTHUMT00000195083.1	C	NM_018950	-		29692901	1	no_errors	ENST00000259951	ensembl	human	known	74_37	missense	SNP	0.675	T	T	29692901	C	T	29692901	3	4	28	1	0	0	0	0	1	0	0	0	7213	536	19	1	718	1	HLA-F	6	29692901	Missense_Mutation	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09	17978173	29692901	141422166	7	2010											
NPVF	64111	genome.wustl.edu	37	chr7	25266594	25266594	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacattttttggtccccaatCttttaattcctcaaaattga	3	9	2	1			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr7:25266594C>A	ENST00000222674.2	-	2	236	c.190G>T	c.(190-192)Gat>Tat	p.D64Y		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	64					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGTCCCCAATCTTTTAATTCC	0.378																																																	0								ENSG00000105954						106	112	110					7																	25266594		2203	4300	6503	NPVF	SO:0001583	missense	0			-	HGNC	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.190G>T	7.37:g.25266594C>A	ENSP00000222674:p.Asp64Tyr	Somatic	0	47	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	75	12.79	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP							NULL	p.D64Y	ENST00000222674.2	37	c.190	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430040	0.43122	.	.	ENSG00000105954	ENST00000222674	T	0.27720	1.65	5.67	4.75	0.60458	.	0.088198	0.48767	D	0.000177	T	0.50684	0.1630	L	0.52905	1.665	0.44539	D	0.997491	D	0.89917	1.0	D	0.77004	0.989	T	0.49862	-0.8894	10	0.87932	D	0	-8.435	15.664	0.77213	0.0:0.8642:0.1358:0.0	.	64	Q9HCQ7	RFRP_HUMAN	Y	64	ENSP00000222674:D64Y	ENSP00000222674:D64Y	D	-	1	0	NPVF	25233119	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.850000	0.39328	2.836000	0.97738	0.655000	0.94253	GAT	-	NULL		0.378	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	protein_coding	OTTHUMT00000250315.1	C	NM_022150	-		25266594	-1	no_errors	ENST00000222674	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25266594	C	A	25266594	3	1	28	1	0	0	0	0	1	0	0	0	10607	913	32	3	408	3	NPVF	7	25266594	Missense_Mutation	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09		25266594	133872069	8	2011											
MON2	23041	genome.wustl.edu	37	chr12	62949949	62949949	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaaggatcttcaacactaGaagatatttgctgcagcctt	8	9	2	2			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr12:62949949G>A	ENST00000393632.2	+	25	3777	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	MON2_ENST00000393629.2_Missense_Mutation_p.R1129K|MON2_ENST00000552738.1_Missense_Mutation_p.R1106K|MON2_ENST00000393630.3_Missense_Mutation_p.R1130K|MON2_ENST00000280379.6_Missense_Mutation_p.R1130K|MON2_ENST00000546600.1_Missense_Mutation_p.R1129K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1129					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCAACACTAGAAGATATTTG	0.373																																																	0								ENSG00000061987						71	67	68					12																	62949949		2203	4300	6503	MON2	SO:0001583	missense	0			-	HGNC		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3386G>A	12.37:g.62949949G>A	ENSP00000377252:p.Arg1129Lys	Somatic	0	14	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	34	66.67	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.R1130K	ENST00000393632.2	37	c.3389	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336872	0.24253	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	N	0.01048	-1.04	0.58432	D	0.999997	B;B;B;B	0.17852	0.004;0.014;0.008;0.024	B;B;B;B	0.20955	0.014;0.025;0.032;0.025	T	0.43845	-0.9366	9	.	.	.	-13.2598	17.895	0.88885	0.0:0.0:1.0:0.0	.	1129;1106;1129;1129	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	K	1129;1130;1130;1129;1106;1129	ENSP00000377252:R1129K;ENSP00000377250:R1130K;ENSP00000280379:R1130K;ENSP00000447407:R1129K;ENSP00000449215:R1106K;ENSP00000377249:R1129K	.	R	+	2	0	MON2	61236216	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.536000	0.98067	2.305000	0.77605	0.462000	0.41574	AGA	-	superfamily_ARM-type_fold		0.373	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	protein_coding	OTTHUMT00000406767.3	G	NM_015026	-		62949949	1	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62949949	G	A	62949949	3	1	28	1	0	0	0	0	1	0	0	0	9702	942	33	2	3484	2	MON2	12	62949949	Missense_Mutation	SNP	G	TCGA-DX-A1L4-01A-12D-A26G-09		62949949	70901946	9	2012											
STAB2	55576	genome.wustl.edu	37	chr12	104092880	104092880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtgtgatccaggaggagGacgtcctccggtatcatgtg	15	8	1	1			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr12:104092880G>A	ENST00000388887.2	+	34	3793	c.3589G>A	c.(3589-3591)Gac>Aac	p.D1197N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGGAGGAGGACGTCCTCCG	0.502																																																	0								ENSG00000136011						131	106	114					12																	104092880		2203	4300	6503	STAB2	SO:0001583	missense	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3589G>A	12.37:g.104092880G>A	ENSP00000373539:p.Asp1197Asn	Somatic	0	36	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	326	77	80.89		Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D1197N	ENST00000388887.2	37	c.3589	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401898	0.42613	.	.	ENSG00000136011	ENST00000388887	D	0.90004	-2.6	5.45	3.28	0.37604	FAS1 domain (5);Growth factor, receptor (1);	0.162209	0.52532	D	0.000063	T	0.79275	0.4418	N	0.13327	0.33	0.09310	N	1	B	0.29162	0.235	B	0.32465	0.146	T	0.67162	-0.5740	10	0.25106	T	0.35	.	11.8506	0.52410	0.213:0.0:0.787:0.0	.	1197	Q8WWQ8	STAB2_HUMAN	N	1197	ENSP00000373539:D1197N	ENSP00000373539:D1197N	D	+	1	0	STAB2	102617010	0.998000	0.40836	0.291000	0.24904	0.400000	0.30750	2.652000	0.46682	1.305000	0.44909	0.561000	0.74099	GAC	-	pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_FAS1_domain,pfscan_FAS1_domain		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	G		-		104092880	1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	SNP	0.018	A	A	104092880	G	A	104092880	3	1	28	1	0	0	0	0	1	0	0	0	15245	1174	41	2	3723	2	STAB2	12	104092880	Missense_Mutation	SNP	G	TCGA-DX-A1L4-01A-12D-A26G-09	41142931	104092880	29759015	10	2013											
ADAM21	8747	genome.wustl.edu	37	chr14	70924450	70924450	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacgttgttcatatgagggtCaagaagctcttagtttctag	10	7	4	2	rs58247196		TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr14:70924450C>T	ENST00000603540.1	+	2	492	c.234C>T	c.(232-234)gtC>gtT	p.V78V	ADAM21_ENST00000267499.3_Silent_p.V78V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	78					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATATGAGGGTCAAGAAGCTCT	0.512																																																	0								ENSG00000139985						105	108	107					14																	70924450		2203	4300	6503	ADAM21	SO:0001819	synonymous_variant	0			-	HGNC	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.234C>T	14.37:g.70924450C>T		Somatic	0	24	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	40	25.93	O43507|Q2VPC6|Q32MR0	Silent	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V78	ENST00000603540.1	37	c.234	CCDS9804.1	14																																																																																			-	pfam_Peptidase_M12B_N		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	protein_coding	OTTHUMT00000413008.3	C		rs58247196		70924450	1	no_errors	ENST00000267499	ensembl	human	known	74_37	silent	SNP	0.170	T	T	70924450	C	T	70924450	2	4	28	1	0	0	0	0	0	0	0	1	243	813	29	2		2	ADAM21	14	70924450	Silent	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09		70924450	36425090	11	2014											
TRPM1	4308	genome.wustl.edu	37	chr15	31294794	31294797	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													ctaattttgactcttcagcgTtctttaagtcatctactgca							TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr15:31294794_31294797delTTCT	ENST00000256552.6	-	28	4253_4256	c.4106_4109delAGAA	c.(4105-4110)aagaacfs	p.KN1369fs	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Frame_Shift_Del_p.KN1347fs|TRPM1_ENST00000542188.1_Frame_Shift_Del_p.KN1386fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCTTCAGCGTTCTTTAAGTCATC	0.426																																																	0								ENSG00000134160																																			TRPM1	SO:0001589	frameshift_variant	0				HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4106_4109delAGAA	15.37:g.31294794_31294797delTTCT	ENSP00000256552:p.Lys1369fs	Somatic	0	34	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29		Frame_Shift_Del	DEL							pfam_Ion_trans_dom	p.K1386fs	ENST00000256552.6	37	c.4160_4157	CCDS58346.1	15																																																																																			-	NULL		0.426	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	TTCT	NM_002420			31294797	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.002:0.002	-	-	31294797	TTCT	-	31294794	7	5	28	1	0	1	0	1	0	0	0	0	16592	1725	60	0	772	0	TRPM1	15	31294794	Frame_Shift_Del	DEL	TTCT	TCGA-DX-A1L4-01A-12D-A26G-09		31294794	71236598	12	2015											
TTC23	64927	genome.wustl.edu	37	chr15	99759242	99759242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcatgttgttttgcttGcagtgacagtcctgtggaca	11	8	1	1			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr15:99759242G>T	ENST00000394132.2	-	7	1133	c.316C>A	c.(316-318)Caa>Aaa	p.Q106K	TTC23_ENST00000394129.2_Missense_Mutation_p.Q106K|TTC23_ENST00000558613.1_Missense_Mutation_p.Q106K|TTC23_ENST00000394136.1_Missense_Mutation_p.Q106K|TTC23_ENST00000394135.3_Missense_Mutation_p.Q106K|TTC23_ENST00000394130.1_Missense_Mutation_p.Q106K|TTC23_ENST00000558663.1_Missense_Mutation_p.Q106K|TTC23_ENST00000262074.4_Missense_Mutation_p.Q106K			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	106										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGTTTTGCTTGCAGTGACAGT	0.423																																																	0								ENSG00000103852						210	201	204					15																	99759242		2197	4297	6494	TTC23	SO:0001583	missense	0			-	HGNC		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.316C>A	15.37:g.99759242G>T	ENSP00000377690:p.Gln106Lys	Somatic	0	18	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP							smart_TPR_repeat	p.Q106K	ENST00000394132.2	37	c.316	CCDS10379.2	15	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118126	0.56505	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);	0.152963	0.44483	D	0.000460	T	0.41328	0.1154	M	0.83483	2.645	0.38641	D	0.951616	P;P	0.39282	0.573;0.666	B;B	0.32677	0.15;0.125	T	0.46190	-0.9209	10	0.11794	T	0.64	-18.6369	13.7281	0.62769	0.0:0.0:1.0:0.0	.	106;106	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	K	106	ENSP00000377690:Q106K;ENSP00000377693:Q106K;ENSP00000262074:Q106K;ENSP00000377692:Q106K;ENSP00000377688:Q106K;ENSP00000457901:Q106K	ENSP00000262074:Q106K	Q	-	1	0	TTC23	97576765	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.456000	0.66665	2.618000	0.88619	0.655000	0.94253	CAA	-	smart_TPR_repeat		0.423	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	protein_coding	OTTHUMT00000303953.2	G	NM_022905	-		99759242	-1	no_errors	ENST00000262074	ensembl	human	known	74_37	missense	SNP	0.998	T	T	99759242	G	T	99759242	3	4	28	1	0	0	0	0	1	0	0	0	16697	1328	46	3	1059	3	TTC23	15	99759242	Missense_Mutation	SNP	G	TCGA-DX-A1L4-01A-12D-A26G-09	68464448	99759242	2772150	13	2016											
TRAF7	84231	genome.wustl.edu	37	chr16	2225556	2225556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagctcacaggcctcaAccactgggtgcgggccctgg	15	13	2	0			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr16:2225556A>G	ENST00000326181.6	+	17	1691	c.1559A>G	c.(1558-1560)aAc>aGc	p.N520S		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	520					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACAGGCCTCAACCACTGGGTG	0.642																																																	0								ENSG00000131653						78	77	77					16																	2225556		2198	4300	6498	TRAF7	SO:0001583	missense	0			-	HGNC	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1559A>G	16.37:g.2225556A>G	ENSP00000318944:p.Asn520Ser	Somatic	0	13	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	Q9H073	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N520S	ENST00000326181.6	37	c.1559	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075103	0.76415	.	.	ENSG00000131653	ENST00000326181	T	0.58652	0.32	4.49	4.49	0.54785	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	0.66733	0.2819	L	0.47078	1.49	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61787	-0.6991	10	0.19590	T	0.45	-55.8238	13.3899	0.60818	1.0:0.0:0.0:0.0	.	520	Q6Q0C0	TRAF7_HUMAN	S	520	ENSP00000318944:N520S	ENSP00000318944:N520S	N	+	2	0	TRAF7	2165557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.026000	0.59711	0.459000	0.35465	AAC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	protein_coding	OTTHUMT00000250762.1	A	NM_032271	-		2225556	1	no_errors	ENST00000326181	ensembl	human	known	74_37	missense	SNP	1.000	G	G	2225556	A	G	2225556	3	3	28	1	0	0	0	0	1	0	0	0	16453	43	2	5	1621	5	TRAF7	16	2225556	Missense_Mutation	SNP	A	TCGA-DX-A1L4-01A-12D-A26G-09		2225556	88129197	14	2017											
NAGPA	51172	genome.wustl.edu	37	chr16	5077858	5077858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcctaccttcactgcagTtggacccggtccatccggca	9	16	1	0			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr16:5077858T>C	ENST00000312251.3	-	7	1182	c.1163A>G	c.(1162-1164)aAc>aGc	p.N388S	NAGPA_ENST00000381955.3_Missense_Mutation_p.N388S|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	388	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	TTCACTGCAGTTGGACCCGGT	0.687																																																	0								ENSG00000103174						13	14	14					16																	5077858		2149	4221	6370	NAGPA	SO:0001583	missense	0			-	HGNC	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.1163A>G	16.37:g.5077858T>C	ENSP00000310998:p.Asn388Ser	Somatic	0	113	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	133	8.28	B2RAS1|Q96EJ8	Missense_Mutation	SNP							pfam_DUF2233,pfscan_EG-like_dom	p.N388S	ENST00000312251.3	37	c.1163	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399650	0.42512	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.11169	2.8;2.8	4.57	2.18	0.27775	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.230900	0.42821	D	0.000644	T	0.08447	0.0210	L	0.44542	1.39	0.36927	D	0.891678	P	0.40144	0.704	B	0.36534	0.227	T	0.22173	-1.0224	10	0.56958	D	0.05	-19.4836	6.0465	0.19762	0.0:0.0861:0.1628:0.7511	.	388	Q9UK23	NAGPA_HUMAN	S	388	ENSP00000310998:N388S;ENSP00000371381:N388S	ENSP00000310998:N388S	N	-	2	0	NAGPA	5017859	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	1.531000	0.36018	0.612000	0.30071	0.459000	0.35465	AAC	-	pfscan_EG-like_dom		0.687	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	protein_coding	OTTHUMT00000207003.1	T	NM_016256	-		5077858	-1	no_errors	ENST00000312251	ensembl	human	known	74_37	missense	SNP	0.999	C	C	5077858	T	C	5077858	3	2	28	1	0	0	0	0	1	0	0	0	10146	1725	60	5	400	5	NAGPA	16	5077858	Missense_Mutation	SNP	T	TCGA-DX-A1L4-01A-12D-A26G-09	2852302	5077858	85276895	15	2018											
ALOX12B	242	genome.wustl.edu	37	chr17	7989357	7989357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcccggagtgccaggGtctcgtagccatccatccac	11	16	1	0			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr17:7989357G>A	ENST00000319144.4	-	2	589	c.329C>T	c.(328-330)aCc>aTc	p.T110I	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	110	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GAGTGCCAGGGTCTCGTAGCC	0.612										Multiple Myeloma(8;0.094)																																							0								ENSG00000179477						106	92	97					17																	7989357		2203	4300	6503	ALOX12B	SO:0001583	missense	0			-	HGNC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.329C>T	17.37:g.7989357G>A	ENSP00000315167:p.Thr110Ile	Somatic	0	26	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77		Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.T110I	ENST00000319144.4	37	c.329	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356299	0.61293	.	.	ENSG00000179477	ENST00000319144	T	0.77877	-1.13	4.63	4.63	0.57726	Lipoxygenase, C-terminal (1);Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.331430	0.36815	N	0.002385	T	0.77232	0.4100	L	0.49455	1.56	0.36952	D	0.892912	P	0.46859	0.885	P	0.48089	0.566	T	0.79794	-0.1653	10	0.33940	T	0.23	-37.0103	14.56	0.68128	0.0:0.0:1.0:0.0	.	110	O75342	LX12B_HUMAN	I	110	ENSP00000315167:T110I	ENSP00000315167:T110I	T	-	2	0	ALOX12B	7930082	0.987000	0.35691	0.996000	0.52242	0.989000	0.77384	2.736000	0.47385	2.416000	0.81992	0.555000	0.69702	ACC	-	pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	protein_coding	OTTHUMT00000226984.3	G		-		7989357	-1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	SNP	0.921	A	A	7989357	G	A	7989357	3	1	28	1	0	0	0	0	1	0	0	0	537	1261	44	2	1832	2	ALOX12B	17	7989357	Missense_Mutation	SNP	G	TCGA-DX-A1L4-01A-12D-A26G-09		7989357	73205853	16	2019											
KRTAP4-1	85285	genome.wustl.edu	37	chr17	39340970	39340970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtctgagagcaggatgggCggcagcagctggatacaaca	15	8	1	1			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr17:39340970C>T	ENST00000398472.1	-	1	624	c.137G>A	c.(136-138)cGc>cAc	p.R46H				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	46	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGGATGGGCGGCAGCAGCT	0.642																																																	0								ENSG00000198443						29	33	32					17																	39340970		2175	4287	6462	KRTAP4-1	SO:0001583	missense	0			-	HGNC	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"Keratin associated proteins"	18907	protein-coding gene	gene with protein product			"keratin associated protein 4-10"	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.137G>A	17.37:g.39340970C>T	ENSP00000381489:p.Arg46His	Somatic	0	114	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	181	10.84	A8MWS7|Q3SYF2	Missense_Mutation	SNP							pfam_Keratin-assoc	p.R46H	ENST00000398472.1	37	c.137		17	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700421	0.30142	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.01484	4.84	4.81	0.21	0.15231	.	.	.	.	.	T	0.01489	0.0048	.	.	.	0.23845	N	0.996687	B	0.19073	0.033	B	0.19946	0.027	T	0.49153	-0.8969	8	0.66056	D	0.02	.	0.8855	0.01243	0.1649:0.3987:0.1603:0.2762	.	46	Q9BYQ7	KRA41_HUMAN	H	42;46;46	ENSP00000381489:R46H	ENSP00000335483:R46H	R	-	2	0	KRTAP4-2;KRTAP4-1	36594496	0.000000	0.05858	0.055000	0.19348	0.003000	0.03518	-0.027000	0.12371	0.097000	0.17492	-0.894000	0.02916	CGC	-	pfam_Keratin-assoc		0.642	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	KRTAP4-1	protein_coding	OTTHUMT00000255108.1	C	NM_033060	-		39340970	-1	no_errors	ENST00000398472	ensembl	human	known	74_37	missense	SNP	0.712	T	T	39340970	C	T	39340970	3	4	28	1	0	0	0	0	1	0	0	0	8550	768	27	1	254	1	KRTAP4-1	17	39340970	Missense_Mutation	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09	31351613	39340970	41854240	17	2020											
CACNA1G	8913	genome.wustl.edu	37	chr17	48646553	48646553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacttcatctttgccttcTttgccgtggagatggtggtg	12	8	3	2			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr17:48646553T>C	ENST00000359106.5	+	3	382	c.382T>C	c.(382-384)Ttt>Ctt	p.F128L	CACNA1G_ENST00000510366.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.F128L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.F128L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.F128L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.F128L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.F128L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	128					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)	CTTTGCCTTCTTTGCCGTGGA	0.517																																																	0								ENSG00000006283						141	131	134					17																	48646553		1985	4164	6149	CACNA1G	SO:0001583	missense	0			-	HGNC	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.382T>C	17.37:g.48646553T>C	ENSP00000352011:p.Phe128Leu	Somatic	0	103	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	155	9.36	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	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.F128L	ENST00000359106.5	37	c.382	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	t	30	5.053072	0.93793	.	.	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	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98027	4.13	0.80722	D	1	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	0.89917	0.988;0.997;0.999;0.983;0.999;0.995;0.991;0.999;0.991;1.0;0.999;1.0;1.0;0.999;0.995;0.971;0.989;0.999;0.999;1.0;0.985;1.0;0.999;1.0;0.997;0.987	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;P	0.91635	0.983;0.996;0.997;0.992;0.997;0.994;0.989;0.997;0.989;0.999;0.996;0.999;0.999;0.998;0.989;0.928;0.869;0.99;0.997;0.999;0.977;0.999;0.996;0.99;0.989;0.793	D	0.97737	1.0206	10	0.72032	D	0.01	.	15.0144	0.71573	0.0:0.0:0.0:1.0	.	128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128	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;.;.	L	128	ENSP00000353990:F128L;ENSP00000339302:F128L;ENSP00000392390:F128L;ENSP00000347078:F128L;ENSP00000409759:F128L;ENSP00000425522:F128L;ENSP00000426261:F128L;ENSP00000425451:F128L;ENSP00000422407:F128L;ENSP00000426814:F128L;ENSP00000427238:F128L;ENSP00000423112:F128L;ENSP00000420918:F128L;ENSP00000426172:F128L;ENSP00000423045:F128L;ENSP00000427173:F128L;ENSP00000426098:F128L;ENSP00000425698:F128L;ENSP00000426232:F128L;ENSP00000423317:F128L;ENSP00000350979:F128L;ENSP00000352011:F128L;ENSP00000414388:F128L;ENSP00000423155:F128L;ENSP00000422268:F128L;ENSP00000421518:F128L	ENSP00000339302:F128L	F	+	1	0	CACNA1G	46001552	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.026000	0.88783	1.959000	0.56917	0.334000	0.21626	TTT	-	pfam_Ion_trans_dom		0.517	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	T	NM_018896	-		48646553	1	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48646553	T	C	48646553	3	2	28	1	0	0	0	0	1	0	0	0	2546	1609	56	5	392	5	CACNA1G	17	48646553	Missense_Mutation	SNP	T	TCGA-DX-A1L4-01A-12D-A26G-09	9305583	48646553	32548657	18	2021											
PLEKHG2	64857	genome.wustl.edu	37	chr19	39911414	39911414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaaaagtaagcctgtcCtagagcccctgacaccccca	6	19	0	2			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr19:39911414C>T	ENST00000409794.3	+	13	2171	c.1321C>T	c.(1321-1323)Cta>Tta	p.L441L	PLEKHG2_ENST00000425673.1_Silent_p.L441L|PLEKHG2_ENST00000378550.1_Silent_p.L441L|PLEKHG2_ENST00000409797.2_Silent_p.L441L|PLEKHG2_ENST00000458508.2_Silent_p.L382L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	441					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)			TAAGCCTGTCCTAGAGCCCCT	0.547																																																	0								ENSG00000090924						78	88	85					19																	39911414		2203	4300	6503	PLEKHG2	SO:0001819	synonymous_variant	0			-	HGNC	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.1321C>T	19.37:g.39911414C>T		Somatic	0	33	0		0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L441	ENST00000409794.3	37	c.1321	CCDS33022.2	19																																																																																			-	NULL		0.547	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	protein_coding	OTTHUMT00000326802.1	C	NM_022835	-		39911414	1	no_errors	ENST00000409794	ensembl	human	known	74_37	silent	SNP	0.984	T	T	39911414	C	T	39911414	2	4	28	1	0	0	0	0	0	0	0	1	12071	680	24	2		2	PLEKHG2	19	39911414	Silent	SNP	C	TCGA-DX-A1L4-01A-12D-A26G-09		39911414	19217569	19	2022											
SRPX	8406	genome.wustl.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		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)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053																2	Deletion - In frame(2)	prostate(2)						ENSG00000101955																																			SRPX	SO:0001651	inframe_deletion	0				HGNC	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.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	Somatic	0	10	0	875	0.546994944074602				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL							pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L23in_frame_del	ENST00000378533.3	37	c.70_68	CCDS14245.1	X																																																																																			-	NULL		0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	GCA	NM_006307			38079978	-1	no_errors	ENST00000378533	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.001:0.002	-	-	38079978	GCA	-	38079976	7	5	28	1	0	1	0	1	0	0	0	0	15171	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DX-A1L4-01A-12D-A26G-09		38079976	117190584	20	2023											
SCNN1D	6339	genome.wustl.edu	37	chr1	1221496	1221496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaaccgcctcaagacgaCgtcctgggggctgctgtccc	14	15	1	1	rs200987650		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:1221496C>T	ENST00000338555.2	+	4	1401	c.257C>T	c.(256-258)aCg>aTg	p.T86M	SCNN1D_ENST00000325425.8_Missense_Mutation_p.T152M|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T250M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T86M			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	86					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTCAAGACGACGTCCTGGGGG	0.692																																																	0								ENSG00000162572		MET/THR	4,4354		0,4,2175	26	26	26		749	1.5	0	1		26	1,8563		0,1,4281	no	missense	SCNN1D	NM_001130413.3	81	0,5,6456	TT,TC,CC		0.0117,0.0918,0.0387	probably-damaging	250/803	1221496	5,12917	2179	4282	6461	SCNN1D	SO:0001583	missense	0			-	HGNC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.257C>T	1.37:g.1221496C>T	ENSP00000339504:p.Thr86Met	Somatic	0	9	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	5	68.75	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	6	62.5	10	13	51.85	14	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T250M	ENST00000338555.2	37	c.749		1	.	.	.	.	.	.	.	.	.	.	c	6.979	0.550590	0.13374	9.18E-4	1.17E-4	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000470022;ENST00000325425;ENST00000400928	T;T;D;T;T	0.83591	-0.03;-0.03;-1.74;-0.03;-0.03	4.53	1.5	0.22942	.	0.522416	0.18213	N	0.148105	T	0.64305	0.2586	N	0.19112	0.55	0.20703	N	0.999865	B;P	0.35944	0.269;0.529	B;B	0.26094	0.066;0.039	T	0.56341	-0.7995	10	0.62326	D	0.03	.	5.8301	0.18577	0.1587:0.6713:0.0:0.17	.	86;250	P51172;A6NNF7	SCNND_HUMAN;.	M	117;250;86;122;152;86	ENSP00000368411:T250M;ENSP00000339504:T86M;ENSP00000420548:T122M;ENSP00000321594:T152M;ENSP00000383717:T86M	ENSP00000321594:T152M	T	+	2	0	SCNN1D	1211359	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.159000	0.16442	0.016000	0.14998	-0.436000	0.05848	ACG	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.692	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	protein_coding	OTTHUMT00000005802.2	C	NM_002978	rs200987650		1221496	1	no_errors	ENST00000379116	ensembl	human	known	74_37	missense	SNP	0.499	T	T	1221496	C	T	1221496	3	4	29	1	0	0	0	0	1	0	0	0	13937	536	19	1	469	1	SCNN1D	1	1221496	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		1221496	248029125	1	2024											
INPP5B	3633	genome.wustl.edu	37	chr1	38343971	38343971	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagagaatccgatcacaCcaggcaggagcacggcactt	10	13	1	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:38343971C>T	ENST00000373026.1	-	15	1806	c.1806G>A	c.(1804-1806)tgG>tgA	p.W602*	INPP5B_ENST00000373023.2_Nonsense_Mutation_p.W602*|INPP5B_ENST00000373024.3_Nonsense_Mutation_p.W522*|INPP5B_ENST00000373027.1_Nonsense_Mutation_p.W358*|INPP5B_ENST00000458109.2_3'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	602	5-phosphatase. {ECO:0000250}.			GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence). {ECO:0000305}.	in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCGATCACACCAGGCAGGAG	0.557																																																	0								ENSG00000204084						79	79	79					1																	38343971		2072	4214	6286	INPP5B	SO:0001587	stop_gained	0			-	HGNC	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1806G>A	1.37:g.38343971C>T	ENSP00000362117:p.Trp602*	Somatic	0	61	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	41	37.88	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Nonsense_Mutation	SNP	30	0	0	31	38.00	19	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.W602*	ENST00000373026.1	37	c.1806		1	.	.	.	.	.	.	.	.	.	.	C	38	6.711452	0.97780	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2506	0.93923	0.0:1.0:0.0:0.0	.	.	.	.	X	358;602;602;602;522	.	ENSP00000362114:W602X	W	-	3	0	INPP5B	38116558	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.400000	0.79949	2.571000	0.86741	0.563000	0.77884	TGG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.557	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	protein_coding	OTTHUMT00000012968.1	C	NM_005540	-		38343971	-1	no_errors	ENST00000373023	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	38343971	C	T	38343971	4	4	29	1	0	0	0	0	0	1	0	0	7757	508	18	2	1211	2	INPP5B	1	38343971	Nonsense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	37122475	38343971	210906650	2	2025											
LPHN2	23266	genome.wustl.edu	37	chr1	82416080	82416080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgccagagagattctGtgaagcattagactccaagg	10	11	1	4			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:82416080G>A	ENST00000370728.1	+	9	2051	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.C469Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.C469Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.C469Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.C469Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.C407Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.C469Y			O95490	LPHN2_HUMAN	latrophilin 2	469					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAGAGATTCTGTGAAGCATTA	0.438																																																	0								ENSG00000117114						74	77	76					1																	82416080		2203	4300	6503	LPHN2	SO:0001583	missense	0			-	HGNC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1406G>A	1.37:g.82416080G>A	ENSP00000359763:p.Cys469Tyr	Somatic	0	30	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	38	0	0	23	53.06	26	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.C469Y	ENST00000370728.1	37	c.1406		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.720862|3.720862	0.68959|0.68959	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97114|.	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85639|0.85639	0.5743|0.5743	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.79784|.	0.993;0.982;0.986|.	D|D	0.87908|0.87908	0.2695|0.2695	10|5	0.87932|.	D|.	0|.	.|.	20.2422|20.2422	0.98381|0.98381	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	469;469;469|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Y|M	407;469;469;469;469;469;469;469;469;469;469;469;469;469|337	ENSP00000359756:C407Y;ENSP00000359763:C469Y;ENSP00000359765:C469Y;ENSP00000359762:C469Y;ENSP00000359760:C469Y;ENSP00000359758:C469Y;ENSP00000353006:C469Y;ENSP00000359750:C469Y;ENSP00000359748:C469Y;ENSP00000322270:C469Y;ENSP00000359752:C469Y;ENSP00000378344:C469Y;ENSP00000271029:C469Y;ENSP00000337306:C469Y|.	ENSP00000271029:C469Y|.	C|V	+|+	2|1	0|0	LPHN2|LPHN2	82188668|82188668	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.230000|9.230000	0.95299|0.95299	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	TGT|GTG	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	G	NM_012302	-		82416080	1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82416080	G	A	82416080	3	1	29	1	0	0	0	0	1	0	0	0	8918	1377	48	2	1424	2	LPHN2	1	82416080	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	44072109	82416080	166834541	3	2026											
FMN2	56776	genome.wustl.edu	37	chr1	240370168	240370168	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaacagactattgaggatCtgagaaccaaaatagctgaa	10	6	1	4			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:240370168C>A	ENST00000319653.9	+	5	2286	c.2056C>A	c.(2056-2058)Ctg>Atg	p.L686M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	686					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L829M(1)|p.L829V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TATTGAGGATCTGAGAACCAA	0.507																																																	2	Substitution - Missense(2)	stomach(1)|lung(1)						ENSG00000155816						64	66	65					1																	240370168		2203	4300	6503	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2056C>A	1.37:g.240370168C>A	ENSP00000318884:p.Leu686Met	Somatic	0	44	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	34	0	0	28	9.68	3	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L686M	ENST00000319653.9	37	c.2056	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938632	0.34189	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80123	-1.34;0.79	5.64	3.77	0.43336	.	0.000000	0.49916	D	0.000121	D	0.87362	0.6158	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87557	0.2469	10	0.87932	D	0	.	8.8713	0.35318	0.0:0.7776:0.0:0.2224	.	686	Q9NZ56	FMN2_HUMAN	M	123;686	ENSP00000409308:L123M;ENSP00000318884:L686M	ENSP00000318884:L686M	L	+	1	2	FMN2	238436791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.600000	0.46240	1.388000	0.46506	0.655000	0.94253	CTG	-	NULL		0.507	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	C	XM_371352	-		240370168	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	1.000	A	A	240370168	C	A	240370168	3	1	29	1	0	0	0	0	1	0	0	0	5952	912	32	3	2074	3	FMN2	1	240370168	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	157954088	240370168	8880453	4	2027											
CCDC74A	90557	genome.wustl.edu	37	chr2	132285768	132285768	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccaagctccatgaggagatCgagcatctgaagcgggaaaa	13	9	1	3	rs142090969	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:132285768C>G	ENST00000295171.6	+	1	363	c.225C>G	c.(223-225)atC>atG	p.I75M	CCDC74A_ENST00000409856.3_Missense_Mutation_p.I75M|CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000467992.2_5'Flank	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	75										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAGGAGATCGAGCATCTGA	0.642																																																	0								ENSG00000163040						27	27	27					2																	132285768		2203	4296	6499	CCDC74A	SO:0001583	missense	0			-	HGNC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.225C>G	2.37:g.132285768C>G	ENSP00000295171:p.Ile75Met	Somatic	0	68	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	Q6P4I5	Missense_Mutation	SNP	15	0	0	18	21.74	5	NULL	p.I75M	ENST00000295171.6	37	c.225	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	12.20	1.865988	0.32977	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.64260	-0.09;-0.09	2.79	0.538	0.17150	.	0.112323	0.29924	U	0.010857	T	0.69531	0.3121	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.986	D;D;D	0.85130	0.987;0.997;0.91	T	0.69087	-0.5238	10	0.87932	D	0	-4.5324	5.1885	0.15197	0.0:0.6067:0.2368:0.1564	.	75;75;75	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	M	75	ENSP00000295171:I75M;ENSP00000387009:I75M	ENSP00000295171:I75M	I	+	3	3	CCDC74A	132002238	0.997000	0.39634	1.000000	0.80357	0.330000	0.28571	0.188000	0.17018	1.123000	0.41961	0.134000	0.15878	ATC	-	NULL		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	protein_coding	OTTHUMT00000254570.2	C	NM_138770	-		132285768	1	no_errors	ENST00000295171	ensembl	human	known	74_37	missense	SNP	0.993	G	G	132285768	C	G	132285768	3	3	29	1	0	0	0	0	1	0	0	0	2849	874	31	4	227	4	CCDC74A	2	132285768	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		132285768	110913605	5	2028											
NEB	4703	genome.wustl.edu	37	chr2	152463201	152463201	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagcctttctgcttggcGtcattccagtctttttggta	8	10	4	0			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:152463201G>A	ENST00000172853.10	-	77	11749				NEB_ENST00000603639.1_Silent_p.D4222D|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Silent_p.D4222D|NEB_ENST00000604864.1_Silent_p.D4222D|NEB_ENST00000397345.3_Silent_p.D4222D			P20929	NEBU_HUMAN	nebulin						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)		TCTGCTTGGCGTCATTCCAGT	0.383																																																	0								ENSG00000183091						336	157	221					2																	152463201		686	1222	1908	NEB	SO:0001627	intron_variant	0			-	HGNC	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.11601+3121C>T	2.37:g.152463201G>A		Somatic	0	148	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	116	22	84.06	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	24	0	0	1	96.15	25	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D4222	ENST00000172853.10	37	c.12666		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152463201	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.886	A	A	152463201	G	A	152463201	1	1	29	0	1	0	0	0	0	0	0	0	10304	1136	40	1		1	NEB	2	152463201	Intron	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	20177433	152463201	90736172	6	2029											
DPP4	1803	genome.wustl.edu	37	chr2	162851506	162851506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactccaacatcgaccagggCtttggagatctgagctgact	10	12	1	3	rs142600908		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:162851506C>A	ENST00000360534.3	-	25	2724	c.2164G>T	c.(2164-2166)Gcc>Tcc	p.A722S	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	722					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCGACCAGGGCTTTGGAGATC	0.478																																																	0								ENSG00000197635						92	85	87					2																	162851506		2203	4300	6503	DPP4	SO:0001583	missense	0			-	HGNC	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2164G>T	2.37:g.162851506C>A	ENSP00000353731:p.Ala722Ser	Somatic	0	39	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	Q53TN1	Missense_Mutation	SNP	24	0	0	50	16.67	10	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A722S	ENST00000360534.3	37	c.2164	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059818	0.76074	.	.	ENSG00000197635	ENST00000360534	T	0.34667	1.35	5.66	5.66	0.87406	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.52343	-0.8588	10	0.44086	T	0.13	-33.9891	19.7417	0.96234	0.0:1.0:0.0:0.0	.	722	P27487	DPP4_HUMAN	S	722	ENSP00000353731:A722S	ENSP00000353731:A722S	A	-	1	0	DPP4	162559752	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.270000	0.78493	2.661000	0.90470	0.655000	0.94253	GCC	-	pfam_Peptidase_S9		0.478	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	protein_coding	OTTHUMT00000255079.2	C		-		162851506	-1	no_errors	ENST00000360534	ensembl	human	known	74_37	missense	SNP	1.000	A	A	162851506	C	A	162851506	3	1	29	1	0	0	0	0	1	0	0	0	4731	797	28	3	144	3	DPP4	2	162851506	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	10388305	162851506	80347867	7	2030											
LRP2	4036	genome.wustl.edu	37	chr2	170028641	170028641	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggatggcatgtcctcTcctctgcaaagcagtcattg	9	13	3	0			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:170028641T>A	ENST00000263816.3	-	58	11432	c.11147A>T	c.(11146-11148)gAg>gTg	p.E3716V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3716	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GCATGTCCTCTCCTCTGCAAA	0.448																																																	0								ENSG00000081479						98	89	92					2																	170028641		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11147A>T	2.37:g.170028641T>A	ENSP00000263816:p.Glu3716Val	Somatic	0	41	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	O00711|Q16215	Missense_Mutation	SNP	46	0	0	53	17.19	11	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3716V	ENST00000263816.3	37	c.11147	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364819	0.41902	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.90197	-2.63	5.82	-3.56	0.04626	.	0.471664	0.24635	N	0.036844	D	0.85613	0.5737	L	0.43152	1.355	0.31928	N	0.612559	B	0.32781	0.384	B	0.30646	0.118	T	0.71533	-0.4564	10	0.30078	T	0.28	.	20.8481	0.99727	0.0:0.0:0.7246:0.2754	.	3716	P98164	LRP2_HUMAN	V	3716;411	ENSP00000263816:E3716V	ENSP00000263816:E3716V	E	-	2	0	LRP2	169736887	0.978000	0.34361	0.003000	0.11579	0.901000	0.52897	1.865000	0.39479	-0.882000	0.03987	0.460000	0.39030	GAG	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	T	NM_004525	-		170028641	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	0.097	A	A	170028641	T	A	170028641	3	1	29	1	0	0	0	0	1	0	0	0	8958	1551	54	5	2908	5	LRP2	2	170028641	Missense_Mutation	SNP	T	TCGA-DX-A23R-01A-11D-A26G-09	7177135	170028641	73170732	8	2031											
SATB1	6304	genome.wustl.edu	37	chr3	18457620	18457620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attccactttccaacctggaTtagccctatttcagataaag	5	11	1	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:18457620T>A	ENST00000338745.6	-	4	2128	c.394A>T	c.(394-396)Atc>Ttc	p.I132F	SATB1_ENST00000454909.2_Missense_Mutation_p.I132F|SATB1_ENST00000417717.2_Missense_Mutation_p.I132F|SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	132	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCAACCTGGATTAGCCCTATT	0.398																																																	0								ENSG00000182568						81	74	76					3																	18457620		2203	4300	6503	SATB1	SO:0001583	missense	0			-	HGNC		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.394A>T	3.37:g.18457620T>A	ENSP00000341024:p.Ile132Phe	Somatic	0	36	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	36	0	0	25	16.67	5	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.I132F	ENST00000338745.6	37	c.394	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027005	0.54683	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.49	5.49	0.81192	.	0.047453	0.85682	D	0.000000	D	0.88276	0.6393	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.89445	0.3726	10	0.87932	D	0	-3.3175	15.8845	0.79232	0.0:0.0:0.0:1.0	.	132;132	Q01826-2;Q01826	.;SATB1_HUMAN	F	132	ENSP00000341024:I132F;ENSP00000399708:I132F;ENSP00000399518:I132F;ENSP00000402982:I132F;ENSP00000406727:I132F;ENSP00000390529:I132F	ENSP00000341024:I132F	I	-	1	0	SATB1	18432624	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	6.099000	0.71466	2.202000	0.70862	0.482000	0.46254	ATC	-	NULL		0.398	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	T	NM_001131010	-		18457620	-1	no_errors	ENST00000417717	ensembl	human	known	74_37	missense	SNP	0.999	A	A	18457620	T	A	18457620	3	1	29	1	0	0	0	0	1	0	0	0	13861	1493	52	5	1929	5	SATB1	3	18457620	Missense_Mutation	SNP	T	TCGA-DX-A23R-01A-11D-A26G-09		18457620	179564810	9	2032											
CCDC51	79714	genome.wustl.edu	37	chr3	48475279	48475279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaccatgaacactttctcAgcctgcaaagagaaaaccgg	8	13	1	2			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:48475279A>G	ENST00000395694.2	-	3	400	c.315T>C	c.(313-315)gcT>gcC	p.A105A	CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000395696.1_Silent_p.A105A	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	105						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACACTTTCTCAGCCTGCAAAG	0.592																																																	0								ENSG00000164051						72	78	76					3																	48475279		2037	4183	6220	CCDC51	SO:0001819	synonymous_variant	0			-	HGNC	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.315T>C	3.37:g.48475279A>G		Somatic	0	32	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	17	56.41	Q9HA01	Silent	SNP	28	0	0	18	66.04	35	NULL	p.A105	ENST00000395694.2	37	c.315	CCDS2766.2	3																																																																																			-	NULL		0.592	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC51	protein_coding	OTTHUMT00000344599.2	A	NM_024661	-		48475279	-1	no_errors	ENST00000395694	ensembl	human	known	74_37	silent	SNP	0.764	G	G	48475279	A	G	48475279	2	3	29	1	0	0	0	0	0	0	0	1	2823	175	7	5		5	CCDC51	3	48475279	Silent	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09	30017659	48475279	149547151	10	2033											
QARS	5859	genome.wustl.edu	37	chr3	49136973	49136973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctacaagctggaggAtcttcctcttagagacaaca	9	10	2	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:49136973A>C	ENST00000306125.6	-	16	1833	c.1496T>G	c.(1495-1497)aTc>aGc	p.I499S	QARS_ENST00000414533.1_Missense_Mutation_p.I488S|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	499					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAGCTGGAGGATCTTCCTCTT	0.517																																																	0								ENSG00000172053						105	105	105					3																	49136973		2203	4300	6503	QARS	SO:0001583	missense	0			-	HGNC	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1496T>G	3.37:g.49136973A>C	ENSP00000307567:p.Ile499Ser	Somatic	0	56	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	59	18.06	B4DWJ2	Missense_Mutation	SNP	31	0	0	48	25.00	16	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth	p.I499S	ENST00000306125.6	37	c.1496	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363803	0.82353	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.21543	2.0;2.0;2.0	5.86	5.86	0.93980	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75144	-0.3421	10	0.87932	D	0	-19.7403	16.255	0.82510	1.0:0.0:0.0:0.0	.	488;499	B4DWJ2;P47897	.;SYQ_HUMAN	S	19;499;488	ENSP00000396326:I19S;ENSP00000307567:I499S;ENSP00000390015:I488S	ENSP00000307567:I499S	I	-	2	0	QARS	49111977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	2.240000	0.73641	0.533000	0.62120	ATC	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth		0.517	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	protein_coding	OTTHUMT00000345689.2	A	NM_005051	-		49136973	-1	no_errors	ENST00000306125	ensembl	human	known	74_37	missense	SNP	1.000	C	C	49136973	A	C	49136973	3	2	29	1	0	0	0	0	1	0	0	0	12879	333	12	5	867	5	QARS	3	49136973	Missense_Mutation	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09	661694	49136973	148885457	11	2034											
NISCH	11188	genome.wustl.edu	37	chr3	52505830	52505831	+	Splice_Site	DEL	GA	GA	-													tcagggcatggctcttgcagGagaacagctcctgggggccg							TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:52505830_52505831delGA	ENST00000479054.1	+	6	482_483	c.410_411delGA	c.(409-411)gga>g	p.G137fs	NISCH_ENST00000488380.1_Splice_Site_p.G137fs|NISCH_ENST00000420808.2_Splice_Site_p.G137fs|NISCH_ENST00000345716.4_Splice_Site_p.G137fs			Q9Y2I1	NISCH_HUMAN	nischarin	137	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTCTTGCAGGAGAACAGCTCC	0.614																																																	0								ENSG00000010322																																			NISCH	SO:0001630	splice_region_variant	0				HGNC	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.410-1GA>-	3.37:g.52505832_52505833delGA		Somatic	0	133	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	68	35.85	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Frame_Shift_Del	DEL	32	0	0	12	58.62	17	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.E138fs	ENST00000479054.1	37	c.410_411	CCDS33767.1	3																																																																																			-	NULL		0.614	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	GA	NM_007184		Frame_Shift_Del	52505831	1	no_errors	ENST00000345716	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.933	-	-	52505831	GA	-	52505830	8	5	29	1	0	1	0	1	0	0	1	0	10434	1188	41	0	428	0	NISCH	3	52505830	Splice_Site	DEL	GA	TCGA-DX-A23R-01A-11D-A26G-09	3368857	52505830	145516600	12	2035											
SKIL	6498	genome.wustl.edu	37	chr3	170108927	170108927	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagaatgaacatgctcaaaGaatggaagaattttatgttg	10	4	1	4			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:170108927G>C	ENST00000458537.3	+	5	2484	c.1775G>C	c.(1774-1776)aGa>aCa	p.R592T	SKIL_ENST00000426052.2_Missense_Mutation_p.R572T|SKIL_ENST00000413427.2_Missense_Mutation_p.R546T|SKIL_ENST00000259119.4_Missense_Mutation_p.R592T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	592					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CATGCTCAAAGAATGGAAGAA	0.318																																																	0								ENSG00000136603						50	54	53					3																	170108927		2203	4300	6503	SKIL	SO:0001583	missense	0			-	HGNC	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1775G>C	3.37:g.170108927G>C	ENSP00000415243:p.Arg592Thr	Somatic	0	31	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	38	0	0	26	23.53	8	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.R592T	ENST00000458537.3	37	c.1775	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969905	0.74246	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.92397	-3.01;-3.01;-3.03;-3.01	5.34	4.47	0.54385	.	0.172262	0.50627	D	0.000107	D	0.90861	0.7129	L	0.50333	1.59	0.33580	D	0.599798	P;P	0.51351	0.921;0.944	P;P	0.48704	0.462;0.587	D	0.93255	0.6638	10	0.66056	D	0.02	-16.0571	10.3304	0.43818	0.1502:0.0:0.8498:0.0	.	546;592	P12757-3;P12757	.;SKIL_HUMAN	T	592;572;546;592	ENSP00000259119:R592T;ENSP00000406520:R572T;ENSP00000400193:R546T;ENSP00000415243:R592T	ENSP00000259119:R592T	R	+	2	0	SKIL	171591621	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.063000	0.49978	1.283000	0.44513	0.650000	0.86243	AGA	-	NULL		0.318	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	protein_coding	OTTHUMT00000352351.4	G	NM_005414	-		170108927	1	no_errors	ENST00000259119	ensembl	human	known	74_37	missense	SNP	1.000	C	C	170108927	G	C	170108927	3	2	29	1	0	0	0	0	1	0	0	0	14366	942	33	4	1793	4	SKIL	3	170108927	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	117603097	170108927	27913503	13	2036											
HSPA4L	22824	genome.wustl.edu	37	chr4	128726313	128726313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagaacaaatcactaaattCtttcttaaagacataagtac	3	7	3	2			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr4:128726313C>G	ENST00000296464.4	+	9	1482	c.1071C>G	c.(1069-1071)ttC>ttG	p.F357L	HSPA4L_ENST00000439123.2_Missense_Mutation_p.F388L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.F331L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.F357L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	357					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCACTAAATTCTTTCTTAAAG	0.313																																																	0								ENSG00000164070						54	54	54					4																	128726313		2203	4297	6500	HSPA4L	SO:0001583	missense	0			-	HGNC	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1071C>G	4.37:g.128726313C>G	ENSP00000296464:p.Phe357Leu	Somatic	0	38	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	33	0	0	45	18.18	10	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.F388L	ENST00000296464.4	37	c.1164	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507772	0.44558	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.00892	5.57;5.57;5.57;5.57;5.57	4.71	2.98	0.34508	.	0.054132	0.85682	D	0.000000	T	0.02610	0.0079	L	0.41027	1.25	0.47374	D	0.999403	D;D;D	0.63046	0.99;0.992;0.992	D;D;D	0.76071	0.92;0.987;0.987	T	0.60403	-0.7270	10	0.56958	D	0.05	.	9.1766	0.37116	0.0:0.7407:0.0:0.2593	.	331;357;357	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	357;388;357;316;331	ENSP00000422482:F357L;ENSP00000393926:F388L;ENSP00000296464:F357L;ENSP00000427305:F316L;ENSP00000425645:F331L	ENSP00000296464:F357L	F	+	3	2	HSPA4L	128945763	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	0.184000	0.16939	0.709000	0.31976	0.655000	0.94253	TTC	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.313	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	protein_coding	OTTHUMT00000257096.3	C	NM_014278	-		128726313	1	no_errors	ENST00000439123	ensembl	human	known	74_37	missense	SNP	1.000	G	G	128726313	C	G	128726313	3	3	29	1	0	0	0	0	1	0	0	0	7415	912	32	4	1105	4	HSPA4L	4	128726313	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		128726313	62427963	14	2037											
TPMT	7172	genome.wustl.edu	37	chr6	18130957	18130957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaattccccaacttttaTgtcgttcttcaaaagcatca	4	11	4	0	rs372305203		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:18130957T>C	ENST00000309983.4	-	9	765	c.680A>G	c.(679-681)cAt>cGt	p.H227R		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	227			H -> Q (in TPMT deficiency; allele TPMT*7; reduced activity; dbSNP:rs72552736). {ECO:0000269|PubMed:16220112, ECO:0000269|PubMed:9711875}.		methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	CCAACTTTTATGTCGTTCTTC	0.294																																					Colon(190;1381 2791 16728 32493)												0								ENSG00000137364						99	99	99					6																	18130957		2203	4299	6502	TPMT	SO:0001583	missense	0			-	HGNC		CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.680A>G	6.37:g.18130957T>C	ENSP00000312304:p.His227Arg	Somatic	0	48	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	38	0	0	29	50.00	29	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.H227R	ENST00000309983.4	37	c.680	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560682	0.65538	.	.	ENSG00000137364	ENST00000309983	T	0.61859	0.07	5.92	4.71	0.59529	.	0.202657	0.52532	D	0.000078	T	0.58192	0.2105	L	0.59436	1.845	0.41890	D	0.990369	D	0.67145	0.996	D	0.64595	0.927	T	0.55897	-0.8068	10	0.25751	T	0.34	-16.8497	11.493	0.50391	0.1341:0.0:0.0:0.8659	.	227	P51580	TPMT_HUMAN	R	227	ENSP00000312304:H227R	ENSP00000312304:H227R	H	-	2	0	TPMT	18238936	0.986000	0.35501	0.402000	0.26371	0.965000	0.64279	3.227000	0.51262	2.270000	0.75569	0.477000	0.44152	CAT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase		0.294	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	protein_coding	OTTHUMT00000039960.1	T		-		18130957	-1	no_errors	ENST00000309983	ensembl	human	known	74_37	missense	SNP	0.713	C	C	18130957	T	C	18130957	3	2	29	1	0	0	0	0	1	0	0	0	16416	1464	51	5	61	5	TPMT	6	18130957	Missense_Mutation	SNP	T	TCGA-DX-A23R-01A-11D-A26G-09		18130957	152984110	15	2038											
SLC44A4	80736	genome.wustl.edu	37	chr6	31831505	31831505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccggtccagggagccgtTgttccgctccaggtcttcca	14	14	1	0	rs539276753		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:31831505T>A	ENST00000229729.6	-	21	2052	c.2032A>T	c.(2032-2034)Aac>Tac	p.N678Y	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.N602Y|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N636Y	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	678					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGGGAGCCGTTGTTCCGCTCC	0.597																																																	0								ENSG00000204385						45	47	46					6																	31831505		1509	2709	4218	SLC44A4	SO:0001583	missense	0			-	HGNC	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2032A>T	6.37:g.31831505T>A	ENSP00000229729:p.Asn678Tyr	Somatic	0	24	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	30	0	0	24	48.94	23	pfam_Choline_transptr-like	p.N678Y	ENST00000229729.6	37	c.2032	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	T	31	5.065558	0.93898	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22945	1.93;1.93;1.93	5.43	4.57	0.56435	.	0.052705	0.64402	D	0.000001	T	0.27205	0.0667	L	0.42245	1.32	0.37336	D	0.9102	P	0.42409	0.779	P	0.56163	0.793	T	0.07328	-1.0778	10	0.87932	D	0	-4.2084	13.575	0.61868	0.0:0.9239:0.0:0.0761	.	678	Q53GD3	CTL4_HUMAN	Y	678;636;602	ENSP00000229729:N678Y;ENSP00000364712:N636Y;ENSP00000444109:N602Y	ENSP00000229729:N678Y	N	-	1	0	SLC44A4	31939484	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.525000	0.67110	1.528000	0.49103	-0.146000	0.13790	AAC	-	pfam_Choline_transptr-like		0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	protein_coding	OTTHUMT00000076234.3	T		-		31831505	-1	no_errors	ENST00000229729	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31831505	T	A	31831505	3	1	29	1	0	0	0	0	1	0	0	0	14646	1812	63	5	104	5	SLC44A4	6	31831505	Missense_Mutation	SNP	T	TCGA-DX-A23R-01A-11D-A26G-09	13700548	31831505	139283562	16	2039											
EPHA7	2045	genome.wustl.edu	37	chr6	93953228	93953228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgattttcttttgatgaccAaccagtgtgatccctaaact	6	9	1	4			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:93953228A>G	ENST00000369303.4	-	17	3097	c.2913T>C	c.(2911-2913)gtT>gtC	p.V971V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	971	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		TTTGATGACCAACCAGTGTGA	0.373																																																	0								ENSG00000135333						269	226	240					6																	93953228		2203	4300	6503	EPHA7	SO:0001819	synonymous_variant	0			-	HGNC	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.2913T>C	6.37:g.93953228A>G		Somatic	0	45	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	34	0	0	19	34.48	10	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V971	ENST00000369303.4	37	c.2913	CCDS5031.1	6																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	A		-		93953228	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	silent	SNP	1.000	G	G	93953228	A	G	93953228	2	3	29	1	0	0	0	0	0	0	0	1	5174	117	5	5		5	EPHA7	6	93953228	Silent	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09	62121723	93953228	77161839	17	2040											
VNN2	8875	genome.wustl.edu	37	chr6	133072574	133072574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataggggatgtgaatccaCctctgaaaggagaagttttc	13	6	1	3			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:133072574C>T	ENST00000326499.6	-	5	1034	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.V251M	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	304	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TGTGAATCCACCTCTGAAAGG	0.428																																																	0								ENSG00000112303						77	76	77					6																	133072574		2202	4295	6497	VNN2	SO:0001583	missense	0			-	HGNC	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.910G>A	6.37:g.133072574C>T	ENSP00000322276:p.Val304Met	Somatic	0	56	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	35	0	0	22	0.00	0	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.V304M	ENST00000326499.6	37	c.910	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619437	0.46736	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.89343	-2.5;-2.5	5.48	-11.0	0.00169	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.510568	0.17256	N	0.180945	T	0.77711	0.4171	M	0.86573	2.825	0.27719	N	0.94519	P	0.46395	0.877	B	0.41510	0.359	T	0.68965	-0.5270	10	0.72032	D	0.01	-3.9906	7.0349	0.24987	0.5761:0.1215:0.2363:0.0661	.	304	O95498	VNN2_HUMAN	M	304;251	ENSP00000322276:V304M;ENSP00000436822:V251M	ENSP00000322276:V304M	V	-	1	0	VNN2	133114267	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.009000	0.01455	-1.894000	0.01105	-0.192000	0.12808	GTG	-	pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	protein_coding	OTTHUMT00000042264.2	C		-		133072574	-1	no_errors	ENST00000326499	ensembl	human	known	74_37	missense	SNP	0.000	T	T	133072574	C	T	133072574	3	4	29	1	0	0	0	0	1	0	0	0	17190	507	18	2	664	2	VNN2	6	133072574	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	39119346	133072574	38042493	18	2041											
RSBN1L	222194	genome.wustl.edu	37	chr7	77398005	77398005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgggggacgctatctAgtctaaaattacagagtcga	11	8	2	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr7:77398005A>T	ENST00000334955.8	+	5	1537	c.1510A>T	c.(1510-1512)Agt>Tgt	p.S504C	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S234C	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	504						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACGCTATCTAGTCTAAAATT	0.378																																																	0								ENSG00000187257						105	96	99					7																	77398005		1918	4131	6049	RSBN1L	SO:0001583	missense	0			-	HGNC	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1510A>T	7.37:g.77398005A>T	ENSP00000334040:p.Ser504Cys	Somatic	0	61	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	25	0	0	41	20.75	11	NULL	p.S504C	ENST00000334955.8	37	c.1510	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489931	0.84962	.	.	ENSG00000187257	ENST00000334955;ENST00000445288;ENST00000445512;ENST00000441514	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.67898	-0.5551	9	0.48119	T	0.1	-14.6999	16.3604	0.83263	1.0:0.0:0.0:0.0	.	504	Q6PCB5	RSBNL_HUMAN	C	504;234;42;10	.	ENSP00000334040:S504C	S	+	1	0	RSBN1L	77235941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.194000	0.94962	2.260000	0.74910	0.528000	0.53228	AGT	-	NULL		0.378	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	protein_coding	OTTHUMT00000340455.3	A	NM_198467	-		77398005	1	no_errors	ENST00000334955	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77398005	A	T	77398005	3	4	29	1	0	0	0	0	1	0	0	0	13705	420	15	5	1528	5	RSBN1L	7	77398005	Missense_Mutation	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09		77398005	81740658	19	2042											
DPP6	1804	genome.wustl.edu	37	chr7	154002609	154002609	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggagccaagcgcttcGgggaaatccgtgcagcagca	14	12	0	0			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr7:154002609G>A	ENST00000377770.3	+	2	384				DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Silent_p.S10S|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000332007.3_Silent_p.S10S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAAGCGCTTCGGGGAAATCCG	0.612																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						53	60	58					7																	154002609		1568	3579	5147	DPP6	SO:0001627	intron_variant	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.244-140690G>A	7.37:g.154002609G>A		Somatic	0	46	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.05		Silent	SNP	24	0	0	22	21.43	6	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S10	ENST00000377770.3	37	c.30		7																																																																																			-	NULL		0.612	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	G	NM_130797	-		154002609	1	no_errors	ENST00000332007	ensembl	human	known	74_37	silent	SNP	0.717	A	A	154002609	G	A	154002609	1	1	29	0	1	0	0	0	0	0	0	0	4732	1103	39	1		1	DPP6	7	154002609	Intron	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	76604604	154002609	5136054	20	2043											
ANK1	286	genome.wustl.edu	37	chr8	41580669	41580669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcttggattggtgcccCgtggtccagcaggatctctg	14	10	1	0			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr8:41580669C>T	ENST00000347528.4	-	9	966	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	ANK1_ENST00000379758.2_Missense_Mutation_p.G295R|ANK1_ENST00000396942.1_Missense_Mutation_p.G295R|ANK1_ENST00000265709.8_Missense_Mutation_p.G328R|ANK1_ENST00000289734.7_Missense_Mutation_p.G295R|ANK1_ENST00000396945.1_Missense_Mutation_p.G295R|ANK1_ENST00000352337.4_Missense_Mutation_p.G295R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	295	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G295W(1)|p.G328W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATTGGTGCCCCGTGGTCCAGC	0.502																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000029534						148	127	134					8																	41580669		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.883G>A	8.37:g.41580669C>T	ENSP00000339620:p.Gly295Arg	Somatic	0	58	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	53	41.11	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	35	0	0	38	43.28	29	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G295R	ENST00000347528.4	37	c.883	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833777	0.91036	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.41	4.53	0.55603	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.88775	2.98	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;0.999;0.992;1.0	D	0.92076	0.5668	10	0.66056	D	0.02	.	14.1065	0.65093	0.0:0.9272:0.0:0.0728	.	328;295;295;295;295	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	R	295;295;295;295;295;295;328;295	ENSP00000339620:G295R;ENSP00000289734:G295R;ENSP00000369082:G295R;ENSP00000380149:G295R;ENSP00000380147:G295R;ENSP00000309131:G295R;ENSP00000265709:G328R	ENSP00000265709:G328R	G	-	1	0	ANK1	41699826	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.070000	0.71220	1.287000	0.44583	0.655000	0.94253	GGG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	C	NM_020475	-		41580669	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41580669	C	T	41580669	3	4	29	1	0	0	0	0	1	0	0	0	620	652	23	1	5252	1	ANK1	8	41580669	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		41580669	104783353	21	2044											
FAM135B	51059	genome.wustl.edu	37	chr8	139209759	139209759	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctgtcctgggcccttacCcagctccgtgtgtggcagct	11	17	0	0			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr8:139209759C>A	ENST00000395297.1	-	8	993	c.823G>T	c.(823-825)Gag>Tag	p.E275*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	275										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGCCCTTACCCAGCTCCGTG	0.602										HNSCC(54;0.14)																																							0								ENSG00000147724						43	49	47					8																	139209759		2112	4234	6346	FAM135B	SO:0001630	splice_region_variant	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.823+1G>T	8.37:g.139209759C>A		Somatic	0	35	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	27	0	0	32	23.81	10	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.E275*	ENST00000395297.1	37	c.823	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	36	5.622617	0.96660	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.5584	12.8257	0.57718	0.0:1.0:0.0:0.0	.	.	.	.	X	275	.	.	E	-	1	0	FAM135B	139278941	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	4.771000	0.62318	2.408000	0.81797	0.557000	0.71058	GAG	-	NULL		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	C	NM_015912	-	Nonsense_Mutation	139209759	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	139209759	C	A	139209759	5	1	29	1	0	0	0	0	0	0	1	0	5451	637	22	3	3449	3	FAM135B	8	139209759	Splice_Site	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	97629090	139209759	7154263	22	2045											
PTAR1	375743	genome.wustl.edu	37	chr9	72338327	72338327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttctagaagatggggaaGattaatccttggttcttctg	10	6	4	3			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr9:72338327G>C	ENST00000340434.4	-	6	865	c.862C>G	c.(862-864)Ctt>Gtt	p.L288V	PTAR1_ENST00000377200.5_Missense_Mutation_p.L209V	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	288					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGATGGGGAAGATTAATCCTT	0.418																																																	0								ENSG00000188647						167	162	164					9																	72338327		1864	4102	5966	PTAR1	SO:0001583	missense	0			-	HGNC	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.862C>G	9.37:g.72338327G>C	ENSP00000344299:p.Leu288Val	Somatic	0	81	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	61	12.86	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	40	0	0	46	14.81	8	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.L288V	ENST00000340434.4	37	c.862	CCDS47978.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294568|2.294568	0.40594|0.40594	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000377200;ENST00000340434|ENST00000415701	T;T|.	0.46063|.	0.88;0.88|.	5.54|5.54	4.62|4.62	0.57501|0.57501	Protein prenyltransferase (1);|.	0.291823|.	0.34200|.	N|.	0.004176|.	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|.	0.17465|.	0.022|.	B|.	0.15052|.	0.012|.	T|T	0.50363|0.50363	-0.8837|-0.8837	10|5	0.15499|.	T|.	0.54|.	-17.5765|-17.5765	14.9001|14.9001	0.70672|0.70672	0.0:0.0:0.719:0.281|0.0:0.0:0.719:0.281	.|.	288|.	Q7Z6K3|.	PTAR1_HUMAN|.	V|C	209;288|54	ENSP00000366405:L209V;ENSP00000344299:L288V|.	ENSP00000344299:L288V|.	L|S	-|-	1|2	0|0	PTAR1|PTAR1	71528147|71528147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	1.513000|1.513000	0.35823|0.35823	1.392000|1.392000	0.46585|0.46585	0.655000|0.655000	0.94253|0.94253	CTT|TCT	-	NULL		0.418	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	protein_coding	OTTHUMT00000052582.4	G	NM_001099666	-		72338327	-1	no_errors	ENST00000340434	ensembl	human	known	74_37	missense	SNP	1.000	C	C	72338327	G	C	72338327	3	2	29	1	0	0	0	0	1	0	0	0	12729	942	33	4	358	4	PTAR1	9	72338327	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09		72338327	68875104	23	2046											
CACNA1B	774	genome.wustl.edu	37	chr9	140852103	140852103	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgacctgatccacgcagagGagggagaggaccggtttgca	15	9	0	4			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr9:140852103G>C	ENST00000371372.1	+	10	1442	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CACNA1B_ENST00000371355.4_Missense_Mutation_p.E434Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E433Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E434Q|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E433Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	433					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)	CCACGCAGAGGAGGGAGAGGA	0.572																																																	0								ENSG00000148408						89	110	103					9																	140852103		2135	4250	6385	CACNA1B	SO:0001583	missense	0			-	HGNC	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.1297G>C	9.37:g.140852103G>C	ENSP00000360423:p.Glu433Gln	Somatic	0	37	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	B1AQK5	Missense_Mutation	SNP	31	0	0	41	21.15	11	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.E434Q	ENST00000371372.1	37	c.1300	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	g	18.90	3.721824	0.68959	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-4.17;-4.18;-4.17;-4.18;-4.18	4.93	4.93	0.64822	.	2.205680	0.04413	N	0.366308	D	0.98492	0.9497	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93521	0.6861	10	0.49607	T	0.09	.	18.2003	0.89836	0.0:0.0:1.0:0.0	.	433	B1AQK6	.	Q	433;433;433;434;434	ENSP00000360423:E433Q;ENSP00000277551:E433Q;ENSP00000360414:E433Q;ENSP00000360408:E434Q;ENSP00000360406:E434Q	ENSP00000277551:E433Q	E	+	1	0	CACNA1B	139971924	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	4.853000	0.62911	2.311000	0.77944	0.299000	0.19835	GAG	-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718	-		140852103	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140852103	G	C	140852103	3	2	29	1	0	0	0	0	1	0	0	0	2541	1175	41	4	1335	4	CACNA1B	9	140852103	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	68513776	140852103	361328	24	2047											
OR9G4	283189	genome.wustl.edu	37	chr11	56510497	56510497	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaatgatccatagaagagcAtgactgagatgaggtgggaa	13	5	0	6			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr11:56510497A>T	ENST00000302957.3	-	1	790	c.791T>A	c.(790-792)aTg>aAg	p.M264K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	264						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)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAGAAGAGCATGACTGAGAT	0.468																																																	0								ENSG00000172457						180	141	154					11																	56510497		2201	4296	6497	OR9G4	SO:0001583	missense	0			-	HGNC	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.791T>A	11.37:g.56510497A>T	ENSP00000307515:p.Met264Lys	Somatic	0	45	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	Q6IF62|Q96RA9	Missense_Mutation	SNP	38	0	0	38	19.15	9	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M264K	ENST00000302957.3	37	c.791	CCDS31537.1	11	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749534	0.30955	.	.	ENSG00000172457	ENST00000302957	T	0.38077	1.16	5.07	0.0264	0.14150	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000201	T	0.27663	0.0680	L	0.52011	1.625	0.09310	N	0.999996	P	0.38677	0.642	B	0.34652	0.187	T	0.17837	-1.0356	10	0.72032	D	0.01	-19.0574	9.3858	0.38342	0.5311:0.0:0.4689:0.0	.	264	Q8NGQ1	OR9G4_HUMAN	K	264	ENSP00000307515:M264K	ENSP00000307515:M264K	M	-	2	0	OR9G4	56267073	0.000000	0.05858	0.926000	0.36857	0.818000	0.46254	-0.410000	0.07151	0.075000	0.16796	-0.288000	0.09946	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G4	protein_coding	OTTHUMT00000391945.1	A	NM_001005284	-		56510497	-1	no_errors	ENST00000302957	ensembl	human	known	74_37	missense	SNP	0.092	T	T	56510497	A	T	56510497	3	4	29	1	0	0	0	0	1	0	0	0	11253	217	8	5	195	5	OR9G4	11	56510497	Missense_Mutation	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09		56510497	78496019	25	2048											
C12orf69	440087	genome.wustl.edu	37	chr12	14959393	14959393	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcaattccttttggattttCataatggcttggatgatgag	10	5	1	2			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:14959393C>T	ENST00000316048.2	-	2	294	c.222G>A	c.(220-222)atG>atA	p.M74I	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron|WBP11_ENST00000261167.2_5'Flank	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	74						integral component of membrane (GO:0016021)											TTTGGATTTTCATAATGGCTT	0.408																																																	0								ENSG00000179256						174	160	164					12																	14959393		1874	4109	5983	SMCO3	SO:0001583	missense	0			-	HGNC		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 69"	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.222G>A	12.37:g.14959393C>T	ENSP00000381895:p.Met74Ile	Somatic	0	105	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	85	16.67	Q8NAI5	Missense_Mutation	SNP	39	0	0	31	18.42	7	NULL	p.M74I	ENST00000316048.2	37	c.222	CCDS41759.1	12	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367523	0.11352	.	.	ENSG00000179256	ENST00000316048	T	0.14266	2.52	5.1	2.13	0.27403	.	0.929646	0.08796	U	0.892514	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.38457	-0.9660	10	0.48119	T	0.1	-3.889	7.1892	0.25816	0.0:0.7387:0.0:0.2613	.	74	A2RU48	CL069_HUMAN	I	74	ENSP00000381895:M74I	ENSP00000381895:M74I	M	-	3	0	C12orf69	14850660	0.000000	0.05858	0.000000	0.03702	0.403000	0.30841	-0.038000	0.12144	0.254000	0.21573	0.555000	0.69702	ATG	-	NULL		0.408	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCO3	protein_coding	OTTHUMT00000394738.1	C	NM_001013698	-		14959393	-1	no_errors	ENST00000316048	ensembl	human	known	74_37	missense	SNP	0.000	T	T	14959393	C	T	14959393	3	4	29	1	0	0	0	0	1	0	0	0	1713	826	29	2	459	2	C12orf69	12	14959393	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		14959393	118892502	26	2049											
SLC4A8	9498	genome.wustl.edu	37	chr12	51864185	51864185	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcctctcagagtgcaattGaatccttgtttggagcttcc	8	10	1	2			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:51864185G>C	ENST00000453097.2	+	13	1751	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	SLC4A8_ENST00000535225.2_Missense_Mutation_p.E459Q|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E459Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E459Q|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E539Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGTGCAATTGAATCCTTGTT	0.463																																																	0								ENSG00000050438						205	182	189					12																	51864185		2203	4300	6503	SLC4A8	SO:0001583	missense	0			-	HGNC	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1534G>C	12.37:g.51864185G>C	ENSP00000405812:p.Glu512Gln	Somatic	0	105	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	287	1731	14.22		Missense_Mutation	SNP	48	0	0	1130	11.15	142	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E512Q	ENST00000453097.2	37	c.1534	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914989	0.92178	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.36	5.36	0.76844	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94345	0.8182	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.998;0.999;0.995;0.994;0.994	D	0.95290	0.8394	10	0.87932	D	0	.	18.2369	0.89952	0.0:0.0:1.0:0.0	.	459;539;459;512;512;512	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	Q	459;539;512;459;512;459;459	ENSP00000441520:E459Q;ENSP00000351483:E539Q;ENSP00000405812:E512Q;ENSP00000378325:E459Q;ENSP00000442561:E459Q	ENSP00000315789:E512Q	E	+	1	0	SLC4A8	50150452	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GAA	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.463	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	protein_coding	OTTHUMT00000404356.1	G	NM_004858	-		51864185	1	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	SNP	1.000	C	C	51864185	G	C	51864185	3	2	29	1	0	0	0	0	1	0	0	0	14667	1291	45	4	1584	4	SLC4A8	12	51864185	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	36904792	51864185	81987710	27	2050											
SCN8A	6334	genome.wustl.edu	37	chr12	52201083	52201083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagaaaaaagagagcaCcccatctacagcctccctcc	8	16	1	2			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:52201083C>T	ENST00000354534.6	+	27	5991	c.5813C>T	c.(5812-5814)aCc>aTc	p.T1938I	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Missense_Mutation_p.T1897I|AC068987.1_ENST00000599343.1_5'Flank	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1938					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAAGAGAGCACCCCATCTACA	0.512																																																	0								ENSG00000196876						56	62	60					12																	52201083		1941	4140	6081	SCN8A	SO:0001583	missense	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5813C>T	12.37:g.52201083C>T	ENSP00000346534:p.Thr1938Ile	Somatic	0	20	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	31	0	0	119	25.62	41	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T1938I	ENST00000354534.6	37	c.5813	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911651	0.33721	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96587	-4.03;-4.06	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.96941	0.9001	L	0.42245	1.32	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	D	0.97146	0.9828	10	0.62326	D	0.03	.	19.177	0.93605	0.0:1.0:0.0:0.0	.	1938	Q9UQD0	SCN8A_HUMAN	I	1938;1897	ENSP00000346534:T1938I;ENSP00000440360:T1897I	ENSP00000346534:T1938I	T	+	2	0	SCN8A	50487350	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.762000	0.68809	2.840000	0.97914	0.655000	0.94253	ACC	-	NULL		0.512	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	C	NM_014191	-		52201083	1	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52201083	C	T	52201083	3	4	29	1	0	0	0	0	1	0	0	0	13932	507	18	2	5915	2	SCN8A	12	52201083	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	336898	52201083	81650812	28	2051											
UPF3A	65110	genome.wustl.edu	37	chr13	115048329	115048329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtctttatcctcatctctActcaagagcatacattaatt	3	11	4	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr13:115048329A>T	ENST00000375299.3	+	3	388	c.332A>T	c.(331-333)tAc>tTc	p.Y111F	UPF3A_ENST00000351487.5_Missense_Mutation_p.Y111F	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	111	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CCTCATCTCTACTCAAGAGCA	0.338																																																	0								ENSG00000169062						145	135	139					13																	115048329		2203	4298	6501	UPF3A	SO:0001583	missense	0			-	HGNC	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.332A>T	13.37:g.115048329A>T	ENSP00000364448:p.Tyr111Phe	Somatic	0	50	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	32	0	0	17	60.47	26	pfam_Nonsense_mediated_decay_UPF3	p.Y111F	ENST00000375299.3	37	c.332	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082716	0.36758	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.69175	-0.38;-0.38	4.63	4.63	0.57726	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.057634	0.64402	D	0.000002	T	0.36690	0.0976	N	0.02225	-0.63	0.43740	D	0.996239	B;P;B	0.37207	0.065;0.587;0.374	B;B;B	0.35859	0.071;0.178;0.212	T	0.31998	-0.9923	9	.	.	.	-10.6941	9.4687	0.38829	0.8421:0.0:0.0:0.1579	.	111;111;111	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	F	111	ENSP00000364448:Y111F;ENSP00000329592:Y111F	.	Y	+	2	0	UPF3A	114066431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.921000	0.63397	1.721000	0.51461	0.528000	0.53228	TAC	-	pfam_Nonsense_mediated_decay_UPF3		0.338	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	protein_coding	OTTHUMT00000045968.2	A		-		115048329	1	no_errors	ENST00000375299	ensembl	human	known	74_37	missense	SNP	1.000	T	T	115048329	A	T	115048329	3	4	29	1	0	0	0	0	1	0	0	0	17012	391	14	5	342	5	UPF3A	13	115048329	Missense_Mutation	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09		115048329	121549	29	2052											
RGS6	9628	genome.wustl.edu	37	chr14	72943466	72943466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagtccgtgtatggcgtgaCtgaagagtcccaggcacaga	13	10	0	4			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr14:72943466C>A	ENST00000553530.1	+	11	917	c.710C>A	c.(709-711)aCt>aAt	p.T237N	RGS6_ENST00000355512.6_Missense_Mutation_p.T237N|RGS6_ENST00000407322.4_Missense_Mutation_p.T237N|RGS6_ENST00000553525.1_Missense_Mutation_p.T237N|RGS6_ENST00000406236.4_Missense_Mutation_p.T237N|RGS6_ENST00000434263.2_Missense_Mutation_p.T168N|RGS6_ENST00000555571.1_Missense_Mutation_p.T237N|RGS6_ENST00000554782.1_Missense_Mutation_p.T98N|RGS6_ENST00000343854.6_Missense_Mutation_p.T237N|RGS6_ENST00000556437.1_Missense_Mutation_p.T237N|RGS6_ENST00000404301.2_Missense_Mutation_p.T237N|RGS6_ENST00000402788.2_Missense_Mutation_p.T237N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	237					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TATGGCGTGACTGAAGAGTCC	0.512																																					Ovarian(143;1926 2468 21071 48641)												0								ENSG00000182732						125	107	113					14																	72943466		2203	4300	6503	RGS6	SO:0001583	missense	0			-	HGNC	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.710C>A	14.37:g.72943466C>A	ENSP00000452331:p.Thr237Asn	Somatic	0	42	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	22	0	0	22	24.14	7	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.T237N	ENST00000553530.1	37	c.710	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188271	0.21954	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.7;1.56;1.56;1.7;1.56;1.7;1.7;1.7;1.56;1.53;1.63;1.71	5.41	5.41	0.78517	.	0.247499	0.48767	D	0.000173	T	0.21468	0.0517	N	0.14661	0.345	0.39841	D	0.973114	B;B;B;B	0.29378	0.243;0.003;0.105;0.001	B;B;B;B	0.28465	0.09;0.005;0.028;0.002	T	0.07195	-1.0785	10	0.20046	T	0.44	-2.691	19.5424	0.95280	0.0:1.0:0.0:0.0	.	168;237;242;237	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	N	237;237;237;237;237;237;237;237;237;237;209;168;98;98	ENSP00000451030:T237N;ENSP00000450936:T237N;ENSP00000452331:T237N;ENSP00000451855:T237N;ENSP00000347699:T237N;ENSP00000385243:T237N;ENSP00000384218:T237N;ENSP00000384612:T237N;ENSP00000383953:T237N;ENSP00000341199:T237N;ENSP00000412144:T168N;ENSP00000451912:T98N	ENSP00000341199:T237N	T	+	2	0	RGS6	72013219	0.107000	0.21998	0.991000	0.47740	0.367000	0.29736	2.619000	0.46401	2.706000	0.92434	0.561000	0.74099	ACT	-	NULL		0.512	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	protein_coding	OTTHUMT00000413033.2	C		-		72943466	1	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	SNP	0.862	A	A	72943466	C	A	72943466	3	1	29	1	0	0	0	0	1	0	0	0	13317	565	20	3	748	3	RGS6	14	72943466	Missense_Mutation	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		72943466	34406074	30	2053											
PML	5371	genome.wustl.edu	37	chr15	74290386	74290386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccagtttctgcgctgCcagcaatgccaggcggaagc	13	12	1	0			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr15:74290386C>T	ENST00000268058.3	+	2	267	c.171C>T	c.(169-171)tgC>tgT	p.C57C	PML_ENST00000268059.6_Silent_p.C57C|PML_ENST00000565898.1_Silent_p.C57C|PML_ENST00000569477.1_Silent_p.C57C|PML_ENST00000567543.1_Silent_p.C57C|PML_ENST00000569965.1_Silent_p.C57C|PML_ENST00000395135.3_Silent_p.C57C|PML_ENST00000395132.2_Silent_p.C57C|PML_ENST00000354026.6_Silent_p.C57C|PML_ENST00000563500.1_Silent_p.C57C|PML_ENST00000359928.4_Silent_p.C57C|PML_ENST00000564428.1_Silent_p.C57C|PML_ENST00000435786.2_Silent_p.C57C|PML_ENST00000436891.3_Silent_p.C57C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	57					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTCTGCGCTGCCAGCAATGCC	0.652			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0								ENSG00000140464						37	39	38					15																	74290386		2198	4297	6495	PML	SO:0001819	synonymous_variant	0			-	HGNC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.171C>T	15.37:g.74290386C>T		Somatic	0	67	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	20	66.67	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	24	0	0	9	65.38	17	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.C57	ENST00000268058.3	37	c.171	CCDS10255.1	15																																																																																			-	smart_Znf_RING,pfscan_Znf_RING		0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	protein_coding	OTTHUMT00000269021.3	C	NM_002675	-		74290386	1	no_errors	ENST00000268058	ensembl	human	known	74_37	silent	SNP	0.980	T	T	74290386	C	T	74290386	2	4	29	1	0	0	0	0	0	0	0	1	12137	747	26	2		2	PML	15	74290386	Silent	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09		74290386	28241006	31	2054											
CYP11A1	1583	genome.wustl.edu	37	chr15	74636134	74636134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaagccctcacctttActgaaaatcacgtcccatgc	6	15	2	2			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr15:74636134A>G	ENST00000268053.6	-	4	979	c.825T>C	c.(823-825)agT>agC	p.S275S	CYP11A1_ENST00000358632.4_Silent_p.S117S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.S117S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	275					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CCTCACCTTTACTGAAAATCA	0.592																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0								ENSG00000140459						156	153	154					15																	74636134		2197	4296	6493	CYP11A1	SO:0001819	synonymous_variant	0			-	HGNC	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.825T>C	15.37:g.74636134A>G		Somatic	0	29	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	27	0	0	39	9.30	4	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S275	ENST00000268053.6	37	c.825	CCDS32291.1	15																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.592	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	protein_coding	OTTHUMT00000319737.1	A		-		74636134	-1	no_errors	ENST00000268053	ensembl	human	known	74_37	silent	SNP	0.031	G	G	74636134	A	G	74636134	2	3	29	1	0	0	0	0	0	0	0	1	4146	388	14	5		5	CYP11A1	15	74636134	Silent	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09	345748	74636134	27895258	32	2055											
LRRC37A2	474170	genome.wustl.edu	37	chr17	44632734	44632734	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaataaataatcatgcAtggaagctgcacaagaagtc	8	7	1	2	rs199771304	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr17:44632734A>G	ENST00000576629.1	+	14	5493	c.4998A>G	c.(4996-4998)gcA>gcG	p.A1666A	ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Silent_p.A1666A|ARL17A_ENST00000570550.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1666						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ATAATCATGCATGGAAGCTGC	0.453																																																	0								ENSG00000238083						45	77	67					17																	44632734		2025	4122	6147	LRRC37A2	SO:0001819	synonymous_variant	0			-	HGNC	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4998A>G	17.37:g.44632734A>G		Somatic	1	136	0.73		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70	B7ZMC3	Silent	SNP	28	0	0	31	0.00	0	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A1666	ENST00000576629.1	37	c.4998	CCDS42353.1	17																																																																																			-	NULL		0.453	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	protein_coding	OTTHUMT00000440299.2	A	NM_001006607	rs199771304		44632734	1	no_errors	ENST00000333412	ensembl	human	known	74_37	silent	SNP	0.006	G	G	44632734	A	G	44632734	2	3	29	1	0	0	0	0	0	0	0	1	8994	204	8	5		5	LRRC37A2	17	44632734	Silent	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09		44632734	36562476	33	2056											
RNF213	57674	genome.wustl.edu	37	chr17	78338308	78338308	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccgagagccgcgtcccCgagttacaggggctggtgac	16	12	0	2	rs182733073	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr17:78338308C>G	ENST00000582970.1	+	42	11969	c.11826C>G	c.(11824-11826)ccC>ccG	p.P3942P	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.P3991P|RNF213_ENST00000336301.6_Silent_p.P2015P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3942					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)			GCCGCGTCCCCGAGTTACAGG	0.582																																																	0								ENSG00000173821						74	69	71					17																	78338308		2203	4300	6503	RNF213	SO:0001819	synonymous_variant	0			-	HGNC	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.11826C>G	17.37:g.78338308C>G		Somatic	0	26	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	35	0	0	11	50.00	11	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P3942	ENST00000582970.1	37	c.11826	CCDS58606.1	17																																																																																			-	NULL		0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	C	NM_020914	-		78338308	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	SNP	0.037	G	G	78338308	C	G	78338308	2	3	29	1	0	0	0	0	0	0	0	1	13485	639	23	4		4	RNF213	17	78338308	Silent	SNP	C	TCGA-DX-A23R-01A-11D-A26G-09	33705574	78338308	2856902	34	2057											
ZNF100	163227	genome.wustl.edu	37	chr19	21909701	21909701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttatgtgcagttagTtgtgaggaccggttaaaggc	12	6	2	1	rs150949595		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:21909701T>G	ENST00000358296.6	-	5	1611	c.1413A>C	c.(1411-1413)caA>caC	p.Q471H	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q407H	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	471					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCAGTTAGTTGTGAGGACC	0.403																																																	0								ENSG00000197020						63	68	66					19																	21909701		2197	4297	6494	ZNF100	SO:0001583	missense	0			-	HGNC	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1413A>C	19.37:g.21909701T>G	ENSP00000351042:p.Gln471His	Somatic	0	47	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	85	17.48	Q7M4M0	Missense_Mutation	SNP	40	0	0	74	38.71	48	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q471H	ENST00000358296.6	37	c.1413	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	2.105	-0.405193	0.04832	.	.	ENSG00000197020	ENST00000358296	T	0.03889	3.77	0.867	-0.398	0.12418	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.04724	-0.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.004;0.012	T	0.48559	-0.9025	9	0.21014	T	0.42	.	3.3856	0.07270	0.0:0.2456:0.479:0.2755	.	471;525	Q8IYN0;Q4G131	ZN100_HUMAN;.	H	471	ENSP00000351042:Q471H	ENSP00000351042:Q471H	Q	-	3	2	ZNF100	21701541	0.000000	0.05858	0.886000	0.34754	0.887000	0.51463	-4.640000	0.00204	0.244000	0.21351	0.241000	0.17934	CAA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	protein_coding	OTTHUMT00000464087.1	T	NM_173531	-		21909701	-1	no_errors	ENST00000358296	ensembl	human	known	74_37	missense	SNP	0.001	G	G	21909701	T	G	21909701	3	3	29	1	0	0	0	0	1	0	0	0	17720	1722	60	5	219	5	ZNF100	19	21909701	Missense_Mutation	SNP	T	TCGA-DX-A23R-01A-11D-A26G-09		21909701	37219282	35	2058											
ZNF100	163227	genome.wustl.edu	37	chr19	21910048	21910049	+	Missense_Mutation	DNP	GG	GG	CA													tgtagtaagggttgaggactGgttaaaggctttgccacatt							TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:21910048_21910049GG>CA	ENST00000358296.6	-	5	1263_1264	c.1065_1066CC>TG	c.(1063-1068)aaCCag>aaTGag	p.Q356E	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q292E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	356					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTGAGGACTGGTTAAAGGCTT	0.411																																																	0								ENSG00000197020																																			ZNF100	SO:0001583	missense	0			-	HGNC	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1065_1066delinsCA	19.37:g.21910048_21910049delinsCA	ENSP00000351042:p.Gln356Glu	Somatic	0	44	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	57|64	28.41|28.09	Q7M4M0	Missense_Mutation|Silent	SNP	41	0	0	52|55	32.94|33.73	28	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q356E|p.N355	ENST00000358296.6	37	c.1066|c.1065	CCDS42538.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.411	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	protein_coding	OTTHUMT00000464087.1	G	NM_173531	-		21910048|21910049	-1	no_errors	ENST00000358296	ensembl	human	known	74_37	missense|silent	SNP	0.003|0.000	C|A	CA	21910049	GG	CA	21910048	3	2	29	1	0	0	0	0	1	0	0	0	17720	1357	47	4	566	4	ZNF100	19	21910048	Missense_Mutation	DNP	GG	TCGA-DX-A23R-01A-11D-A26G-09	347	21910048	37218935	36	2059	27	2									
ZNF100	163227	genome.wustl.edu	37	chr19	21910055	21910055	+	Silent	SNP	G	G	A													agggttgaggactggttaaaGgctttgccacattcttcaca							TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:21910055G>A	ENST00000358296.6	-	5	1257	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	ZNF100_ENST00000305570.6_Silent_p.A289A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	353					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGGTTAAAGGCTTTGCCAC	0.408																																																	0								ENSG00000197020						71	76	74					19																	21910055		2195	4292	6487	ZNF100	SO:0001819	synonymous_variant	0			-	HGNC	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1059C>T	19.37:g.21910055G>A		Somatic	0	44	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	65	30.11	Q7M4M0	Silent	SNP	39	0	0	54	32.50	26	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A353	ENST00000358296.6	37	c.1059	CCDS42538.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	protein_coding	OTTHUMT00000464087.1	G	NM_173531	-		21910055	-1	no_errors	ENST00000358296	ensembl	human	known	74_37	silent	SNP	0.001	A	A	21910055	G	A	21910055	2	1	29	1	0	0	0	0	0	0	0	1	17720	987	35	2		2	ZNF100	19	21910055	Silent	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	7	21910055	37218928	37	2060	27	2									
C20orf132	6185	genome.wustl.edu	37	chr20	35807790	35807791	+	Intron	INS	-	-	CTTACAGACAGGGCCCCGCGGCCGGCACT													gggtgaggagttgcgcgtggINSctttggggagagggctgtcg					rs57415986|rs11467214	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr20:35807790_35807791insCTTACAGACAGGGCCCCGCGGCCGGCACT	ENST00000237530.6	+	1	324				MROH8_ENST00000441008.2_Frame_Shift_Ins_p.S17fs|MROH8_ENST00000400441.3_Splice_Site|RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II						aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GTTGCGCGTGGCTTTGGGGAGA	0.708														1621	0.323682	0.1929	0.3098	5008	,	,		16123	0.5188		0.2903	False		,,,				2504	0.3436																0								ENSG00000101353																																			MROH8	SO:0001627	intron_variant	0				HGNC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.13+18->CTTACAGACAGGGCCCCGCGGCCGGCACT	20.37:g.35807790_35807791insCTTACAGACAGGGCCCCGCGGCCGGCACT		Somatic					0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Frame_Shift_Ins	INS	18	10	2	16	5.88	1	superfamily_ARM-type_fold	p.H31fs	ENST00000237530.6	37	c.94_93	CCDS13291.1	20																																																																																			-	NULL		0.708	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH8	protein_coding	OTTHUMT00000079076.2	-	NM_002951			35807791	-1	no_errors	ENST00000400441	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.052	CTTACAGACAGGGCCCCGCGGCCGGCACT	CTTACAGACAGGGCCCCGCGGCCGGCACT	35807791	-	CTTACAGACAGGGCCCCGCGGCCGGCACT	35807790	6	5	29	0	1	1	1	0	0	0	0	0	2088	1203	42	0		0	C20orf132	20	35807790	Intron	INS	-	TCGA-DX-A23R-01A-11D-A26G-09		35807790	27217730	38	2061											
SFRS15	57466	genome.wustl.edu	37	chr21	33073436	33073436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagcattgtcaagggcagGagactgtggttttggaggct	15	7	1	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr21:33073436G>A	ENST00000286835.7	-	7	1031	c.649C>T	c.(649-651)Cct>Tct	p.P217S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P202S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P217S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	217						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAAGGGCAGGAGACTGTGGT	0.428																																																	0								ENSG00000156304						126	123	124					21																	33073436		2203	4300	6503	SCAF4	SO:0001583	missense	0			-	HGNC	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.649C>T	21.37:g.33073436G>A	ENSP00000286835:p.Pro217Ser	Somatic	0	82	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	26	61.19	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	31	0	0	14	64.10	25	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.P217S	ENST00000286835.7	37	c.649	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827848	0.71143	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.45668	0.93;0.89;0.89	6.07	6.07	0.98685	.	0.058610	0.64402	D	0.000001	T	0.61009	0.2313	M	0.63428	1.95	0.51482	D	0.999926	D;P;D;D	0.59767	0.976;0.954;0.986;0.976	P;P;P;P	0.58660	0.7;0.622;0.843;0.7	T	0.58434	-0.7637	10	0.56958	D	0.05	-9.3187	20.6593	0.99626	0.0:0.0:1.0:0.0	.	202;217;217;217	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	202;217;217	ENSP00000402377:P202S;ENSP00000286835:P217S;ENSP00000382703:P217S	ENSP00000286835:P217S	P	-	1	0	SCAF4	31995307	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.645000	0.91049	2.885000	0.99019	0.655000	0.94253	CCT	-	NULL		0.428	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	protein_coding	OTTHUMT00000192659.1	G	XM_047889	-		33073436	-1	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33073436	G	A	33073436	3	1	29	1	0	0	0	0	1	0	0	0	14179	1174	41	2	2850	2	SFRS15	21	33073436	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09		33073436	15056459	39	2062											
TRPM2	7226	genome.wustl.edu	37	chr21	45784082	45784082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttccagggcacacagtggGacccaaagaaacatgtccag	10	13	0	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr21:45784082G>A	ENST00000397928.1	+	3	785	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TRPM2_ENST00000300481.9_Missense_Mutation_p.D114N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D114N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D114N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	114					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACACAGTGGGACCCAAAGAA	0.557																																																	0								ENSG00000142185						161	121	134					21																	45784082		2203	4300	6503	TRPM2	SO:0001583	missense	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.340G>A	21.37:g.45784082G>A	ENSP00000381023:p.Asp114Asn	Somatic	0	34	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	33	2.94	1	20	44.44	16	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.D114N	ENST00000397928.1	37	c.340	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	2.675	-0.276684	0.05679	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.61274	0.12;0.49;0.12;0.12;0.12	4.18	3.27	0.37495	.	0.194505	0.44483	D	0.000455	T	0.43787	0.1263	L	0.35542	1.07	0.46678	D	0.99915	P;P	0.38110	0.618;0.462	B;B	0.39419	0.299;0.138	T	0.21177	-1.0253	10	0.07644	T	0.81	-34.7255	12.9658	0.58483	0.0:0.0:0.8367:0.1633	.	114;114	E9PGK7;O94759	.;TRPM2_HUMAN	N	114	ENSP00000300482:D114N;ENSP00000393982:D114N;ENSP00000381023:D114N;ENSP00000300481:D114N;ENSP00000381026:D114N	ENSP00000300481:D114N	D	+	1	0	TRPM2	44608510	1.000000	0.71417	0.998000	0.56505	0.480000	0.33159	5.819000	0.69243	0.694000	0.31654	0.462000	0.41574	GAC	-	NULL		0.557	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	G	NM_003307	-		45784082	1	no_errors	ENST00000300482	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45784082	G	A	45784082	3	1	29	1	0	0	0	0	1	0	0	0	16593	1174	41	2	350	2	TRPM2	21	45784082	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	12710646	45784082	2345813	40	2063											
SLC7A4	6545	genome.wustl.edu	37	chr22	21384449	21384449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgccaagggacaggaactGaaccagcgactccaggtcca	12	12	0	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr22:21384449G>A	ENST00000382932.2	-	3	1241	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	SLC7A4_ENST00000403586.1_Nonsense_Mutation_p.Q392*|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	392					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAGGAACTGAACCAGCGAC	0.652																																																	0								ENSG00000099960						40	43	42					22																	21384449		2203	4300	6503	SLC7A4	SO:0001587	stop_gained	0			-	HGNC	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1174C>T	22.37:g.21384449G>A	ENSP00000372390:p.Gln392*	Somatic	0	49	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Nonsense_Mutation	SNP	21	0	0	32	0.00	0	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.Q392*	ENST00000382932.2	37	c.1174	CCDS33608.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.145462	0.97324	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	.	.	.	4.94	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.4129	0.49935	0.0879:0.0:0.9121:0.0	.	.	.	.	X	392	.	ENSP00000372390:Q392X	Q	-	1	0	SLC7A4	19714449	1.000000	0.71417	0.983000	0.44433	0.822000	0.46500	7.377000	0.79668	1.455000	0.47813	0.561000	0.74099	CAG	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.652	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	protein_coding	OTTHUMT00000320467.1	G	NM_004173	-		21384449	-1	no_errors	ENST00000382932	ensembl	human	known	74_37	nonsense	SNP	0.999	A	A	21384449	G	A	21384449	4	1	29	1	0	0	0	0	0	1	0	0	14707	1299	45	2	745	2	SLC7A4	22	21384449	Nonsense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09		21384449	29920117	41	2064											
CA5B	11238	genome.wustl.edu	37	chrX	15790632	15790632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttagtgatcaagggaggAcccctggaacacaactaccg	10	10	1	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chrX:15790632A>G	ENST00000318636.3	+	4	490	c.354A>G	c.(352-354)ggA>ggG	p.G118G	CA5B_ENST00000454127.2_Silent_p.G118G	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	72				KHWVRIRPLRT -> SRRTARSPTS (in Ref. 3; BC021816). {ECO:0000305}.		mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TCAAGGGAGGACCCCTGGAAC	0.512																																																	0								ENSG00000169239						148	130	136					X																	15790632		2203	4300	6503	CA5B	SO:0001819	synonymous_variant	0			-	HGNC	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"Carbonic anhydrases"	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.354A>G	X.37:g.15790632A>G		Somatic	0	73	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	39	41.79	A6NEZ4	Silent	SNP	34	0	0	31	36.73	18	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G118	ENST00000318636.3	37	c.354	CCDS14171.1	X																																																																																			-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.512	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5B	protein_coding	OTTHUMT00000354933.1	A	NM_007220	-		15790632	1	no_errors	ENST00000318636	ensembl	human	known	74_37	silent	SNP	0.993	G	G	15790632	A	G	15790632	2	3	29	1	0	0	0	0	0	0	0	1	2522	262	10	5		5	CA5B	23	15790632	Silent	SNP	A	TCGA-DX-A23R-01A-11D-A26G-09		15790632	139479928	42	2065											
RNF128	79589	genome.wustl.edu	37	chrX	105970351	105970351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgagcgaggagggcGtgtacggccaggactcgccg	20	10	0	1			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chrX:105970351G>A	ENST00000255499.2	+	1	458	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CGAGGAGGGCGTGTACGGCCA	0.682																																																	0								ENSG00000133135						18	14	15					X																	105970351		2187	4257	6444	RNF128	SO:0001583	missense	0			-	HGNC	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.208G>A	X.37:g.105970351G>A	ENSP00000255499:p.Val70Met	Somatic	0	60	0		0.614104762267843				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	15	69.39	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	12	0	0	5	79.17	19	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V70M	ENST00000255499.2	37	c.208	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	g	18.65	3.669834	0.67814	.	.	ENSG00000133135	ENST00000255499	T	0.12569	2.67	4.7	4.7	0.59300	.	0.231325	0.35708	N	0.003024	T	0.18383	0.0441	L	0.39898	1.24	0.29738	N	0.837367	D	0.65815	0.995	P	0.52909	0.713	T	0.02560	-1.1141	10	0.40728	T	0.16	.	10.5584	0.45131	0.0:0.1912:0.8088:0.0	.	70	Q8TEB7	RN128_HUMAN	M	70	ENSP00000255499:V70M	ENSP00000255499:V70M	V	+	1	0	RNF128	105857007	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.716000	0.47219	2.082000	0.62665	0.509000	0.49947	GTG	-	NULL		0.682	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	protein_coding	OTTHUMT00000057804.1	G	NM_024539	-		105970351	1	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	SNP	1.000	A	A	105970351	G	A	105970351	3	1	29	1	0	0	0	0	1	0	0	0	13444	1145	40	1	620	1	RNF128	23	105970351	Missense_Mutation	SNP	G	TCGA-DX-A23R-01A-11D-A26G-09	90179719	105970351	49300209	43	2066											
FLG	2312	genome.wustl.edu	37	chr1	152278006	152278006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtacccctgccttcctCctctgcttgaccccgggtgt	11	16	1	1			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr1:152278006C>T	ENST00000368799.1	-	3	9391	c.9356G>A	c.(9355-9357)gGa>gAa	p.G3119E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3119	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)			CTGCCTTCCTCCTCTGCTTGA	0.592									Ichthyosis																																								0								ENSG00000143631						103	148	133					1																	152278006		2180	4281	6461	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.9356G>A	1.37:g.152278006C>T	ENSP00000357789:p.Gly3119Glu	Somatic	0	60	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G3119E	ENST00000368799.1	37	c.9356	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505775	0.26949	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.66	2.71	0.32032	.	.	.	.	.	T	0.01287	0.0042	M	0.76574	2.34	0.09310	N	1	D	0.59357	0.985	P	0.51974	0.686	T	0.18178	-1.0345	9	0.02654	T	1	.	9.2296	0.37428	0.0:0.7768:0.2232:0.0	.	3119	P20930	FILA_HUMAN	E	3119	ENSP00000357789:G3119E	ENSP00000357789:G3119E	G	-	2	0	FLG	150544630	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-1.049000	0.03514	0.610000	0.30035	0.449000	0.29647	GGA	-	NULL		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016	-		152278006	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.003	T	T	152278006	C	T	152278006	3	4	30	1	0	0	0	0	1	0	0	0	5924	855	30	2	2833	2	FLG	1	152278006	Missense_Mutation	SNP	C	TCGA-DX-A23T-01A-11D-A26G-09		152278006	96972615	1	2067											
CP	1356	genome.wustl.edu	37	chr3	148919931	148919931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcagggcctctctcctttcGatttgtgaaggaggcatctg	11	10	3	1			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr3:148919931G>C	ENST00000264613.6	-	7	1568	c.1306C>G	c.(1306-1308)Cga>Gga	p.R436G		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	436	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTCTCCTTTCGATTTGTGAAG	0.453																																																	0								ENSG00000047457						129	128	128					3																	148919931		2203	4300	6503	CP	SO:0001583	missense	0			-	HGNC	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1306C>G	3.37:g.148919931G>C	ENSP00000264613:p.Arg436Gly	Somatic	0	43	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP							pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.R436G	ENST00000264613.6	37	c.1306	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288601	0.23478	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98862	-5.19;-5.19	5.67	2.75	0.32379	Cupredoxin (2);	0.679047	0.15015	N	0.285360	D	0.97225	0.9093	M	0.67569	2.06	0.09310	N	1	P;P;P;P	0.39391	0.671;0.671;0.671;0.671	B;B;B;B	0.35770	0.139;0.21;0.139;0.139	D	0.91453	0.5183	10	0.49607	T	0.09	-0.0566	13.8297	0.63373	0.0:0.0:0.4672:0.5328	.	436;436;436;436	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	G	436;219	ENSP00000264613:R436G;ENSP00000420545:R219G	ENSP00000264613:R436G	R	-	1	2	CP	150402621	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	0.546000	0.23284	0.344000	0.23847	0.650000	0.86243	CGA	-	superfamily_Cupredoxin		0.453	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	protein_coding	OTTHUMT00000317498.1	G	NM_000096	-		148919931	-1	no_errors	ENST00000264613	ensembl	human	known	74_37	missense	SNP	0.000	C	C	148919931	G	C	148919931	3	2	30	1	0	0	0	0	1	0	0	0	3789	1066	37	4	1943	4	CP	3	148919931	Missense_Mutation	SNP	G	TCGA-DX-A23T-01A-11D-A26G-09		148919931	49102499	2	2068											
KDR	3791	genome.wustl.edu	37	chr4	55980332	55980332	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaagtcaatccccacAtttagttcagttcttgctgt	7	10	3	1			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr4:55980332A>T	ENST00000263923.4	-	6	1054	c.759T>A	c.(757-759)aaT>aaA	p.N253K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	253	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)	CAATCCCCACATTTAGTTCAG	0.398			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0								ENSG00000128052						186	178	181					4																	55980332		2203	4300	6503	KDR	SO:0001583	missense	0			-	HGNC	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.759T>A	4.37:g.55980332A>T	ENSP00000263923:p.Asn253Lys	Somatic	0	50	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.N253K	ENST00000263923.4	37	c.759	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554609	0.45487	.	.	ENSG00000128052	ENST00000263923	T	0.65549	-0.16	5.45	-7.43	0.01383	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048538	0.85682	D	0.000000	T	0.75148	0.3810	M	0.83774	2.66	0.47341	D	0.999398	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.81006	-0.1128	10	0.45353	T	0.12	.	16.7983	0.85608	0.4354:0.0:0.5646:0.0	.	253;253	P35968-2;P35968	.;VGFR2_HUMAN	K	253	ENSP00000263923:N253K	ENSP00000263923:N253K	N	-	3	2	KDR	55675089	0.529000	0.26322	0.166000	0.22797	0.047000	0.14425	-0.149000	0.10204	-1.423000	0.02002	-0.313000	0.08912	AAT	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.398	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	A		-		55980332	-1	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	SNP	0.692	T	T	55980332	A	T	55980332	3	4	30	1	0	0	0	0	1	0	0	0	8141	214	8	5	3411	5	KDR	4	55980332	Missense_Mutation	SNP	A	TCGA-DX-A23T-01A-11D-A26G-09		55980332	135173944	3	2069											
MSH3	4437	genome.wustl.edu	37	chr5	79950709	79950717	+	In_Frame_Del	DEL	GCAGCGGCC	GCAGCGGCC	-													accctggcgctgcagcggctGcagcggccgcagcggccgca					rs144776112|rs201874762|rs2431220|rs201906899	byFrequency	TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	GCAGCGGCC	GCAGCGGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr5:79950709_79950717delGCAGCGGCC	ENST00000265081.6	+	1	243_251	c.163_171delGCAGCGGCC	c.(163-171)gcagcggccdel	p.AAA58del	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	58	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		Tgcagcggctgcagcggccgcagcggccg	0.694								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	841,2699		233,375,1162					,		0.1		dbSNP_100	9	1241,5749		368,505,2622	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	601,880,3784	A1A1,A1R,RR		17.7539,23.7571,19.7721	,	,		2082,8448				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.163_171delGCAGCGGCC	5.37:g.79950718_79950726delGCAGCGGCC	ENSP00000265081:p.Ala58_Ala60del	Somatic					0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAA58in_frame_del	ENST00000265081.6	37	c.163_171	CCDS34195.1	5																																																																																			-	NULL		0.694	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCAGCGGCC	NM_002439			79950717	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-	-	79950717	GCAGCGGCC	-	79950709	7	5	30	1	0	1	0	1	0	0	0	0	9873	1319	46	0	165	0	MSH3	5	79950709	In_Frame_Del	DEL	GCAGCGGCC	TCGA-DX-A23T-01A-11D-A26G-09		79950709	100964551	4	2070											
FEM1C	56929	genome.wustl.edu	37	chr5	114860070	114860070	+	Missense_Mutation	SNP	G	G	A													ccctttataatatattctatGattcactatgacacgagcag							TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr5:114860070G>A	ENST00000274457.3	-	3	2350	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	597					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TATATTCTATGATTCACTATG	0.363																																																	0								ENSG00000145780						70	75	74					5																	114860070		2202	4300	6502	FEM1C	SO:0001583	missense	0			-	HGNC		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1789C>T	5.37:g.114860070G>A	ENSP00000274457:p.His597Tyr	Somatic	0	42	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	80	16.49	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H597Y	ENST00000274457.3	37	c.1789	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827180	0.02734	.	.	ENSG00000145780	ENST00000274457	T	0.66815	-0.23	4.84	3.96	0.45880	.	0.052438	0.85682	D	0.000000	T	0.57725	0.2073	L	0.46670	1.46	0.50039	D	0.999844	B	0.11235	0.004	B	0.06405	0.002	T	0.51741	-0.8667	10	0.16896	T	0.51	-19.6047	14.3748	0.66867	0.0:0.0:0.8507:0.1493	.	597	Q96JP0	FEM1C_HUMAN	Y	597	ENSP00000274457:H597Y	ENSP00000274457:H597Y	H	-	1	0	FEM1C	114887969	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	6.645000	0.74343	1.009000	0.39289	-0.521000	0.04368	CAT	-	NULL		0.363	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	protein_coding	OTTHUMT00000250857.3	G	NM_020177	-		114860070	-1	no_errors	ENST00000274457	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114860070	G	A	114860070	3	1	30	1	0	0	0	0	1	0	0	0	5813	1290	45	2	68	2	FEM1C	5	114860070	Missense_Mutation	SNP	G	TCGA-DX-A23T-01A-11D-A26G-09	34909361	114860070	66055190	5	2071	28	2	1	17		3	2	43	N	G	1.628064e-05
FEM1C	56929	genome.wustl.edu	37	chr5	114860080	114860080	+	Silent	SNP	G	G	A													tatattctatgattcactatGacacgagcagcaagacactg							TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr5:114860080G>A	ENST00000274457.3	-	3	2340	c.1779C>T	c.(1777-1779)gtC>gtT	p.V593V		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	593					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GATTCACTATGACACGAGCAG	0.358																																																	0								ENSG00000145780						83	87	85					5																	114860080		2202	4300	6502	FEM1C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1779C>T	5.37:g.114860080G>A		Somatic	0	45	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.79	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V593	ENST00000274457.3	37	c.1779	CCDS4118.1	5																																																																																			-	NULL		0.358	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	protein_coding	OTTHUMT00000250857.3	G	NM_020177	-		114860080	-1	no_errors	ENST00000274457	ensembl	human	known	74_37	silent	SNP	1.000	A	A	114860080	G	A	114860080	2	1	30	1	0	0	0	0	0	0	0	1	5813	1277	45	2		2	FEM1C	5	114860080	Silent	SNP	G	TCGA-DX-A23T-01A-11D-A26G-09	10	114860080	66055180	6	2072	28	2	1	17		3	2	43	N	G	1.628064e-05
FEM1C	56929	genome.wustl.edu	37	chr5	114860112	114860112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagacactgcaatgtggtatGatttataggctggattaaat	10	4	0	2			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr5:114860112G>A	ENST00000274457.3	-	3	2308	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	583					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		AATGTGGTATGATTTATAGGC	0.378																																																	0								ENSG00000145780						104	105	104					5																	114860112		2202	4300	6502	FEM1C	SO:0001583	missense	0			-	HGNC		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1747C>T	5.37:g.114860112G>A	ENSP00000274457:p.His583Tyr	Somatic	0	39	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	75	19.35	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H583Y	ENST00000274457.3	37	c.1747	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	G	0	-2.612869	0.00120	.	.	ENSG00000145780	ENST00000274457	T	0.65178	-0.14	4.84	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	N	0.05280	-0.08	0.50467	D	0.999875	B	0.06786	0.001	B	0.08055	0.003	T	0.29243	-1.0018	10	0.02654	T	1	-12.9878	13.0454	0.58922	0.0784:0.0:0.9216:0.0	.	583	Q96JP0	FEM1C_HUMAN	Y	583	ENSP00000274457:H583Y	ENSP00000274457:H583Y	H	-	1	0	FEM1C	114888011	1.000000	0.71417	0.885000	0.34714	0.007000	0.05969	7.931000	0.87625	1.035000	0.39972	-0.379000	0.06801	CAT	-	NULL		0.378	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	protein_coding	OTTHUMT00000250857.3	G	NM_020177	-		114860112	-1	no_errors	ENST00000274457	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114860112	G	A	114860112	3	1	30	1	0	0	0	0	1	0	0	0	5813	1290	45	2	110	2	FEM1C	5	114860112	Missense_Mutation	SNP	G	TCGA-DX-A23T-01A-11D-A26G-09	32	114860112	66055148	7	2073			1	17		3	2	43	N	G	1.628064e-05
SDK1	221935	genome.wustl.edu	37	chr7	4091396	4091396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgcctacttcacttccgttCtgtgcttcaccacccctggg	7	18	3	0			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr7:4091396C>T	ENST00000404826.2	+	19	2984	c.2845C>T	c.(2845-2847)Ctg>Ttg	p.L949L	SDK1_ENST00000389531.3_Silent_p.L949L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	949	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CACTTCCGTTCTGTGCTTCAC	0.542																																																	0								ENSG00000146555						159	143	148					7																	4091396		2203	4300	6503	SDK1	SO:0001819	synonymous_variant	0			-	HGNC	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.2845C>T	7.37:g.4091396C>T		Somatic	0	32	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	190	15.18	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L949	ENST00000404826.2	37	c.2845	CCDS34590.1	7																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	C	NM_152744	-		4091396	1	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	SNP	0.979	T	T	4091396	C	T	4091396	2	4	30	1	0	0	0	0	0	0	0	1	13976	912	32	2		2	SDK1	7	4091396	Silent	SNP	C	TCGA-DX-A23T-01A-11D-A26G-09		4091396	155047267	8	2074											
ADAM32	203102	genome.wustl.edu	37	chr8	39080584	39080584	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaatcaggcgttgaatgtaGgccgaaagcacatcctgaat	10	9	1	2			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr8:39080584G>C	ENST00000379907.4	+	14	1479	c.1352G>C	c.(1351-1353)aGg>aCg	p.R451T	ADAM32_ENST00000437682.2_Missense_Mutation_p.R352T|ADAM32_ENST00000519315.1_Missense_Mutation_p.R345T	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	451	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTTGAATGTAGGCCGAAAGCA	0.333																																																	0								ENSG00000197140						56	52	53					8																	39080584		1873	4100	5973	ADAM32	SO:0001583	missense	0			-	HGNC	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1352G>C	8.37:g.39080584G>C	ENSP00000369238:p.Arg451Thr	Somatic	0	28	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q8TC42	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R451T	ENST00000379907.4	37	c.1352	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959251	0.53400	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.18960	2.18;2.18;2.18	5.55	5.55	0.83447	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.37053	N	0.002264	T	0.58566	0.2131	H	0.94423	3.535	0.36007	D	0.837763	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.75218	-0.3395	10	0.87932	D	0	.	15.3512	0.74389	0.0:0.0:1.0:0.0	.	352;345;451	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	T	352;345;451	ENSP00000405978:R352T;ENSP00000429422:R345T;ENSP00000369238:R451T	ENSP00000369238:R451T	R	+	2	0	ADAM32	39199741	0.998000	0.40836	0.853000	0.33588	0.179000	0.23085	4.644000	0.61397	2.763000	0.94921	0.655000	0.94253	AGG	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.333	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	protein_coding	OTTHUMT00000377089.1	G	NM_145004	-		39080584	1	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	SNP	0.978	C	C	39080584	G	C	39080584	3	2	30	1	0	0	0	0	1	0	0	0	249	1000	35	4	1406	4	ADAM32	8	39080584	Missense_Mutation	SNP	G	TCGA-DX-A23T-01A-11D-A26G-09		39080584	107283438	9	2075											
PDE3B	5140	genome.wustl.edu	37	chr11	14889058	14889058	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaaaatatgcagggagatGaagaagcaaatcttggtctg	11	4	2	3			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr11:14889058G>A	ENST00000282096.4	+	15	3246	c.2893G>A	c.(2893-2895)Gaa>Aaa	p.E965K	PDE3B_ENST00000455098.2_Missense_Mutation_p.E914K	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	965	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GCAGGGAGATGAAGAAGCAAA	0.363																																																	0								ENSG00000152270						79	73	75					11																	14889058		2200	4294	6494	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2893G>A	11.37:g.14889058G>A	ENSP00000282096:p.Glu965Lys	Somatic	0	30	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E965K	ENST00000282096.4	37	c.2893	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770036	0.90020	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.79141	-1.24;-1.24	5.74	5.74	0.90152	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.84261	0.5433	L	0.39467	1.215	0.58432	D	0.999999	D;D	0.89917	0.976;1.0	D;D	0.91635	0.938;0.999	D	0.84395	0.0557	10	0.54805	T	0.06	.	18.099	0.89499	0.0:0.0:1.0:0.0	.	914;965	B7ZM37;Q13370	.;PDE3B_HUMAN	K	965;914	ENSP00000282096:E965K;ENSP00000388644:E914K	ENSP00000282096:E965K	E	+	1	0	PDE3B	14845634	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.476000	0.97823	2.711000	0.92665	0.561000	0.74099	GAA	-	pfam_PDEase_catalytic_dom		0.363	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	G	NM_000922	-		14889058	1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14889058	G	A	14889058	3	1	30	1	0	0	0	0	1	0	0	0	11640	1291	45	2	2951	2	PDE3B	11	14889058	Missense_Mutation	SNP	G	TCGA-DX-A23T-01A-11D-A26G-09		14889058	120117458	10	2076											
NAT10	55226	genome.wustl.edu	37	chr11	34130376	34130376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaagagctggggtttAgcaggtaagctgggctcttc	14	6	1	2			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr11:34130376A>G	ENST00000257829.3	+	3	402	c.196A>G	c.(196-198)Agc>Ggc	p.S66G	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Missense_Mutation_p.S66G	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	66						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCTGGGGTTTAGCAGGTAAGC	0.408																																																	0								ENSG00000135372						138	124	129					11																	34130376		2202	4298	6500	NAT10	SO:0001583	missense	0			-	HGNC	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.196A>G	11.37:g.34130376A>G	ENSP00000257829:p.Ser66Gly	Somatic	0	57	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP							pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.S66G	ENST00000257829.3	37	c.196	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981966	0.74474	.	.	ENSG00000135372	ENST00000257829;ENST00000529523;ENST00000527971	T;T;T	0.32023	1.47;1.47;1.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.87180	2.865	0.80722	D	1	D	0.61080	0.989	P	0.55923	0.787	T	0.63292	-0.6670	10	0.52906	T	0.07	-19.5323	15.3465	0.74343	1.0:0.0:0.0:0.0	.	66	Q9H0A0	NAT10_HUMAN	G	66	ENSP00000257829:S66G;ENSP00000435569:S66G;ENSP00000437324:S66G	ENSP00000257829:S66G	S	+	1	0	NAT10	34086952	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.109000	0.94291	2.029000	0.59856	0.459000	0.35465	AGC	-	NULL		0.408	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	protein_coding	OTTHUMT00000388693.1	A	NM_024662	-		34130376	1	no_errors	ENST00000257829	ensembl	human	known	74_37	missense	SNP	1.000	G	G	34130376	A	G	34130376	3	3	30	1	0	0	0	0	1	0	0	0	10176	420	15	5	202	5	NAT10	11	34130376	Missense_Mutation	SNP	A	TCGA-DX-A23T-01A-11D-A26G-09	19241318	34130376	100876140	11	2077											
GRN	2896	genome.wustl.edu	37	chr17	42427059	42427059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcatgcggggatggccatCactgctgcccacggggcttc	15	13	1	0			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr17:42427059C>T	ENST00000053867.3	+	4	351	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	GRN_ENST00000589265.1_Missense_Mutation_p.H97Y	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	97					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGATGGCCATCACTGCTGCCC	0.602																																																	0								ENSG00000030582						45	46	46					17																	42427059		2203	4300	6503	GRN	SO:0001583	missense	0			-	HGNC	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.289C>T	17.37:g.42427059C>T	ENSP00000053867:p.His97Tyr	Somatic	0	30	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP							pfam_Granulin,smart_Granulin	p.H97Y	ENST00000053867.3	37	c.289	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	c	15.24	2.776109	0.49786	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.76316	-1.01	4.04	4.04	0.47022	Granulin (3);	0.000000	0.56097	D	0.000034	T	0.76919	0.4055	M	0.74389	2.26	0.47374	D	0.9994	B	0.14805	0.011	B	0.23716	0.048	T	0.74627	-0.3602	10	0.33940	T	0.23	-24.2919	13.7647	0.62988	0.0:1.0:0.0:0.0	.	97	P28799	GRN_HUMAN	Y	97	ENSP00000053867:H97Y	ENSP00000053867:H97Y	H	+	1	0	GRN	39782585	0.998000	0.40836	0.926000	0.36857	0.652000	0.38707	4.134000	0.57990	2.087000	0.62958	0.394000	0.25966	CAC	-	pfam_Granulin,smart_Granulin		0.602	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	protein_coding	OTTHUMT00000457766.1	C	NM_002087	-		42427059	1	no_errors	ENST00000053867	ensembl	human	known	74_37	missense	SNP	0.996	T	T	42427059	C	T	42427059	3	4	30	1	0	0	0	0	1	0	0	0	6806	826	29	2	299	2	GRN	17	42427059	Missense_Mutation	SNP	C	TCGA-DX-A23T-01A-11D-A26G-09		42427059	38768151	12	2078											
SYNJ1	8867	genome.wustl.edu	37	chr21	34029016	34029016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttataagtataacttcacCaaaacttgcaaactgctgca	4	11	1	0			TCGA-DX-A23T-01A-11D-A26G-09	TCGA-DX-A23T-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc6f717-fbc5-40d2-b105-da9a150b454f	b5482bab-e0c8-4a78-b485-a9d4bcfe9203	g.chr21:34029016C>T	ENST00000322229.7	-	20	2775	c.2776G>A	c.(2776-2778)Ggt>Agt	p.G926S	SYNJ1_ENST00000357345.3_Missense_Mutation_p.G926S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G921S|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382499.2_Missense_Mutation_p.G965S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G965S			O43426	SYNJ1_HUMAN	synaptojanin 1	926	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						ATAACTTCACCAAAACTTGCA	0.318																																																	0								ENSG00000159082						32	33	32					21																	34029016		2202	4300	6502	SYNJ1	SO:0001583	missense	0			-	HGNC	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.2776G>A	21.37:g.34029016C>T	ENSP00000322234:p.Gly926Ser	Somatic	0	23	0		0.600203060745475				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	O43425|O94984|Q4KMR1	Missense_Mutation	SNP							pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.G965S	ENST00000322229.7	37	c.2893	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	32	5.186751	0.94923	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.97752	-3.46;-4.09;-4.52;-3.66;-3.57	5.35	5.35	0.76521	Domain of unknown function DUF1866 (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.80422	2.495	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;0.999	D	0.99849	1.1069	10	0.87932	D	0	.	19.0499	0.93039	0.0:1.0:0.0:0.0	.	921;965;926;926;926	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	S	921;926;965;965;926	ENSP00000371931:G921S;ENSP00000349903:G926S;ENSP00000371939:G965S;ENSP00000409667:G965S;ENSP00000322234:G926S	ENSP00000322234:G926S	G	-	1	0	SYNJ1	32950887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.625000	0.83145	2.506000	0.84524	0.491000	0.48974	GGT	-	pfam_DUF1866,pfscan_RRM_dom		0.318	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	protein_coding		C		-		34029016	-1	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34029016	C	T	34029016	3	4	30	1	0	0	0	0	1	0	0	0	15459	594	21	2	2018	2	SYNJ1	21	34029016	Missense_Mutation	SNP	C	TCGA-DX-A23T-01A-11D-A26G-09		34029016	14100879	13	2079											
COL11A1	1301	genome.wustl.edu	37	chr1	103345239	103345239	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcagaacttatactcacCgcacaaccatcatacagtgt	5	13	2	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:103345239C>T	ENST00000370096.3	-	66	5586	c.5274G>A	c.(5272-5274)gcG>gcA	p.A1758A	COL11A1_ENST00000512756.1_Splice_Site_p.A1642A|COL11A1_ENST00000353414.4_Splice_Site_p.A1719A|COL11A1_ENST00000358392.2_Splice_Site_p.A1770A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1758	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.			A -> T (in Ref. 1; AAA51891). {ECO:0000305}.	cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTATACTCACCGCACAACCAT	0.433																																																	0								ENSG00000060718						121	111	115					1																	103345239		2203	4300	6503	COL11A1	SO:0001630	splice_region_variant	0			-	HGNC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5274+1G>A	1.37:g.103345239C>T		Somatic	0	36	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A1770	ENST00000370096.3	37	c.5310	CCDS778.1	1																																																																																			-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	C	NM_080630	-	Silent	103345239	-1	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	SNP	0.998	T	T	103345239	C	T	103345239	5	4	31	1	0	0	0	0	0	0	1	0	3669	666	23	1	154	1	COL11A1	1	103345239	Splice_Site	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09		103345239	145905382	1	2080											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144879468	144879468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttctccaagggcttcctctCagaggaactagccagtgttg	11	11	2	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:144879468C>T	ENST00000369354.3	-	27	4171	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1464K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1464K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1328K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1284K|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1328					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTTCCTCTCAGAGGAACTA	0.527			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								ENSG00000178104						121	142	135					1																	144879468		2203	4295	6498	PDE4DIP	SO:0001583	missense	0			-	HGNC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3982G>A	1.37:g.144879468C>T	ENSP00000358360:p.Glu1328Lys	Somatic	0	148	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	111	15.27	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP							pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E1328K	ENST00000369354.3	37	c.3982	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	3.567	-0.088535	0.07097	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01538	4.79;4.9;4.9;4.89;4.89	5.64	-2.83	0.05769	.	.	.	.	.	T	0.00271	0.0008	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	0.41161	-0.9524	9	0.06099	T	0.92	.	6.8006	0.23748	0.0:0.354:0.2419:0.4041	.	1284;1328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1284;1328;1328;1464;1464	ENSP00000327209:E1284K;ENSP00000358360:E1328K;ENSP00000358363:E1328K;ENSP00000435654:E1464K;ENSP00000358366:E1464K	ENSP00000327209:E1284K	E	-	1	0	PDE4DIP	143590825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.308000	0.08156	-0.452000	0.07087	-0.907000	0.02831	GAG	-	NULL		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	C	NM_022359	-		144879468	-1	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	SNP	0.000	T	T	144879468	C	T	144879468	3	4	31	1	0	0	0	0	1	0	0	0	11645	835	29	2	3130	2	PDE4DIP	1	144879468	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	41534229	144879468	104371153	2	2081											
PRKAB2	5565	genome.wustl.edu	37	chr1	146638473	146638473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaagaacttgtattgGtgctctccctcagggaggtc	10	11	2	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:146638473G>T	ENST00000254101.3	-	4	507	c.369C>A	c.(367-369)caC>caA	p.H123Q	PRKAB2_ENST00000425272.2_Missense_Mutation_p.H41Q	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	123					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	ACTTGTATTGGTGCTCTCCCT	0.448																																																	0								ENSG00000131791						97	85	89					1																	146638473		2203	4300	6503	PRKAB2	SO:0001583	missense	0			-	HGNC	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.369C>A	1.37:g.146638473G>T	ENSP00000254101:p.His123Gln	Somatic	0	38	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP							pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.H123Q	ENST00000254101.3	37	c.369	CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009658	0.75046	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.79	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.989	T	0.76410	-0.2969	9	0.87932	D	0	.	8.3792	0.32461	0.243:0.0:0.757:0.0	.	41;41;123	B4E214;B4DH06;O43741	.;.;AAKB2_HUMAN	Q	123;41	.	ENSP00000254101:H123Q	H	-	3	2	PRKAB2	145105097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.864000	0.39469	0.776000	0.33473	0.655000	0.94253	CAC	-	superfamily_Ig_E-set		0.448	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	protein_coding	OTTHUMT00000039471.1	G	NM_005399	-		146638473	-1	no_errors	ENST00000254101	ensembl	human	known	74_37	missense	SNP	1.000	T	T	146638473	G	T	146638473	3	4	31	1	0	0	0	0	1	0	0	0	12501	1252	44	3	469	3	PRKAB2	1	146638473	Missense_Mutation	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	1759005	146638473	102612148	3	2082											
ETV3	2117	genome.wustl.edu	37	chr1	157105270	157105270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttccttacctgagggCccggctcagcttgtcataat	8	13	2	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:157105270C>T	ENST00000368192.4	-	3	341	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.A93T	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	93					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)				TACCTGAGGGCCCGGCTCAGC	0.468																																																	0								ENSG00000117036						62	63	63					1																	157105270		2203	4300	6503	ETV3	SO:0001583	missense	0			-	HGNC	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.277G>A	1.37:g.157105270C>T	ENSP00000357175:p.Ala93Thr	Somatic	0	60	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	364	65	84.65	B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.A93T	ENST00000368192.4	37	c.277	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830626	0.91036	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.71817	-0.6;-0.6	5.47	5.47	0.80525	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000001	D	0.85784	0.5777	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88370	0.2994	10	0.87932	D	0	.	18.0939	0.89482	0.0:1.0:0.0:0.0	.	93;93	P41162-2;P41162	.;ETV3_HUMAN	T	93	ENSP00000357175:A93T;ENSP00000327316:A93T	ENSP00000327316:A93T	A	-	1	0	ETV3	155371894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.566000	0.86566	0.655000	0.94253	GCC	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom		0.468	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	protein_coding	OTTHUMT00000082843.2	C	NM_005240	-		157105270	-1	no_errors	ENST00000368192	ensembl	human	known	74_37	missense	SNP	1.000	T	T	157105270	C	T	157105270	3	4	31	1	0	0	0	0	1	0	0	0	5281	739	26	2	1305	2	ETV3	1	157105270	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	10466797	157105270	92145351	4	2083											
ATP2B4	493	genome.wustl.edu	37	chr1	203680134	203680134	+	Silent	SNP	G	G	A													actatctgcatagcttaccgGgacttcgatgacacagagcc							TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:203680134G>A	ENST00000357681.5	+	12	3052	c.1929G>A	c.(1927-1929)cgG>cgA	p.R643R	ATP2B4_ENST00000341360.2_Silent_p.R643R|ATP2B4_ENST00000367219.3_Silent_p.R631R|ATP2B4_ENST00000391954.2_Silent_p.R643R|ATP2B4_ENST00000367218.3_Silent_p.R643R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	643					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGCTTACCGGGACTTCGATG	0.532																																																	0								ENSG00000058668						116	98	104					1																	203680134		2203	4300	6503	ATP2B4	SO:0001819	synonymous_variant	0			-	HGNC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1929G>A	1.37:g.203680134G>A		Somatic	0	32	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	107	36	74.83	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R643	ENST00000357681.5	37	c.1929	CCDS1440.1	1																																																																																			-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	protein_coding	OTTHUMT00000087462.1	G	NM_001001396	-		203680134	1	no_errors	ENST00000357681	ensembl	human	known	74_37	silent	SNP	0.997	A	A	203680134	G	A	203680134	2	1	31	1	0	0	0	0	0	0	0	1	1142	1219	43	2		2	ATP2B4	1	203680134	Silent	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	46574864	203680134	45570487	5	2084	29	2									
ATP2B4	493	genome.wustl.edu	37	chr1	203680135	203680135	+	Missense_Mutation	SNP	G	G	A													ctatctgcatagcttaccggGacttcgatgacacagagccc							TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:203680135G>A	ENST00000357681.5	+	12	3053	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ATP2B4_ENST00000341360.2_Missense_Mutation_p.D644N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D632N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D644N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D644N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	644					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCTTACCGGGACTTCGATGA	0.532																																																	0								ENSG00000058668						117	99	105					1																	203680135		2203	4300	6503	ATP2B4	SO:0001583	missense	0			-	HGNC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1930G>A	1.37:g.203680135G>A	ENSP00000350310:p.Asp644Asn	Somatic	0	33	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	106	36	74.65	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.D644N	ENST00000357681.5	37	c.1930	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699854	0.88924	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.33	5.33	0.75918	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.115683	0.38837	N	0.001554	D	0.97266	0.9106	M	0.74467	2.265	0.80722	D	1	P;P;P	0.51147	0.942;0.898;0.698	P;P;B	0.53313	0.723;0.72;0.409	D	0.97822	1.0257	10	0.87932	D	0	-18.9857	18.9784	0.92746	0.0:0.0:1.0:0.0	.	644;644;644	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	644;644;632;644;644	ENSP00000350310:D644N;ENSP00000356187:D644N;ENSP00000356188:D632N;ENSP00000375816:D644N;ENSP00000340930:D644N	ENSP00000340930:D644N	D	+	1	0	ATP2B4	201946758	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	9.555000	0.98123	2.641000	0.89580	0.637000	0.83480	GAC	-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	protein_coding	OTTHUMT00000087462.1	G	NM_001001396	-		203680135	1	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	SNP	1.000	A	A	203680135	G	A	203680135	3	1	31	1	0	0	0	0	1	0	0	0	1142	1174	41	2	1972	2	ATP2B4	1	203680135	Missense_Mutation	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	1	203680135	45570486	6	2085	29	2									
C1orf131	8443	genome.wustl.edu	37	chr1	231376805	231376805	+	5'Flank	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagcagagcgtcaagaAgtgtcggagaactgggaggc	17	7	2	3			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:231376805A>C	ENST00000366647.4	+	0	0				C1orf131_ENST00000318906.2_Missense_Mutation_p.L28R|C1orf131_ENST00000366651.3_Missense_Mutation_p.L28R|C1orf131_ENST00000471936.1_5'UTR|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000366649.2_Missense_Mutation_p.L28R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AGCGTCAAGAAGTGTCGGAGA	0.607																																																	0								ENSG00000143633						113	113	113					1																	231376805		2203	4300	6503	C1orf131	SO:0001631	upstream_gene_variant	0			-	HGNC	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231376805A>C	Exception_encountered	Somatic	0	37	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP							NULL	p.L28R	ENST00000366647.4	37	c.83	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246800	0.59103	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651;ENST00000366648;ENST00000451322	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.06	2.68	0.31781	.	0.295055	0.27266	N	0.020149	T	0.28400	0.0702	M	0.68952	2.095	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.999;0.999;0.999	T	0.08513	-1.0718	10	0.87932	D	0	-13.3122	4.0123	0.09627	0.6352:0.1813:0.1836:0.0	.	28;28;28;28;28	B4E0F7;Q8NDD1-4;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;.;CA131_HUMAN;.;.	R	28;28;28;18;11	ENSP00000355609:L28R;ENSP00000321341:L28R;ENSP00000355611:L28R;ENSP00000401677:L11R	ENSP00000321341:L28R	L	-	2	0	C1orf131	229443428	0.491000	0.26019	0.004000	0.12327	0.013000	0.08279	1.749000	0.38319	0.382000	0.24878	0.528000	0.53228	CTT	-	NULL		0.607	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	protein_coding	OTTHUMT00000092871.1	A		-		231376805	-1	no_errors	ENST00000366649	ensembl	human	known	74_37	missense	SNP	0.003	C	C	231376805	A	C	231376805	1	2	31	0	1	0	0	0	0	0	0	0	2000	72	3	5		5	C1orf131	1	231376805	5'Flank	SNP	A	TCGA-DX-A23U-01A-11D-A26G-09	27696670	231376805	17873816	7	2086											
EXO1	9156	genome.wustl.edu	37	chr1	242030309	242030309	+	Frame_Shift_Del	DEL	G	G	-													aacgagtgattagtactaaaGggttaaatctcccaaggaaa					rs532992049		TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr1:242030309delG	ENST00000366548.3	+	11	1812	c.1219delG	c.(1219-1221)gggfs	p.G407fs	EXO1_ENST00000518483.1_Frame_Shift_Del_p.G407fs|EXO1_ENST00000348581.5_Frame_Shift_Del_p.G407fs	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	407	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TAGTACTAAAGGGTTAAATCT	0.403								Editing and processing nucleases																																									0								ENSG00000174371						73	68	70					1																	242030309		2203	4300	6503	EXO1	SO:0001589	frameshift_variant	0				HGNC	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1219delG	1.37:g.242030309delG	ENSP00000355506:p.Gly407fs	Somatic	0	28	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Frame_Shift_Del	DEL							pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.L408fs	ENST00000366548.3	37	c.1219	CCDS1620.1	1																																																																																			-	NULL		0.403	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	protein_coding	OTTHUMT00000096405.1	G	NM_006027			242030309	1	no_errors	ENST00000348581	ensembl	human	known	74_37	frame_shift_del	DEL	0.896	-	-	242030309	G	-	242030309	7	5	31	1	0	1	0	1	0	0	0	0	5302	1000	35	0	1249	0	EXO1	1	242030309	Frame_Shift_Del	DEL	G	TCGA-DX-A23U-01A-11D-A26G-09	10653504	242030309	7220312	8	2087											
GEN1	348654	genome.wustl.edu	37	chr2	17962994	17962998	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-													tcaaagaaagtggccataacAagttgagtagccctaagata					rs113873109|rs149936944	byFrequency	TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	AAGTT	AAGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr2:17962994_17962998delAAGTT	ENST00000381254.2	+	14	2729_2733	c.2515_2519delAAGTT	c.(2515-2520)aagttgfs	p.KL839fs	GEN1_ENST00000317402.7_Frame_Shift_Del_p.KL839fs|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	839					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGCCATAACAAGTTGAGTAGCCCT	0.371								Homologous recombination						297	0.0593051	0.0076	0.0548	5008	,	,		20614	0.1081		0.0905	False		,,,				2504	0.0501																0								ENSG00000178295		,	107,4159		0,107,2026					,	3.6	0		dbSNP_131	57	906,7340		48,810,3265	no	frameshift,frameshift	GEN1	NM_182625.3,NM_001130009.1	,	48,917,5291	A1A1,A1R,RR		10.9871,2.5082,8.0962	,	,		1013,11499				GEN1	SO:0001589	frameshift_variant	0				HGNC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2515_2519delAAGTT	2.37:g.17962994_17962998delAAGTT	ENSP00000370653:p.Lys839fs	Somatic					0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q17RS9|Q6ZN37	Frame_Shift_Del	DEL							pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.K839fs	ENST00000381254.2	37	c.2515_2519	CCDS1691.1	2																																																																																			-	NULL		0.371	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	protein_coding	OTTHUMT00000241661.2	AAGTT	NM_182625			17962998	1	no_errors	ENST00000317402	ensembl	human	known	74_37	frame_shift_del	DEL	0.019:0.011:0.000:0.000:0.000	-	-	17962998	AAGTT	-	17962994	7	5	31	1	0	1	0	1	0	0	0	0	6337	131	5	0	2565	0	GEN1	2	17962994	Frame_Shift_Del	DEL	AAGTT	TCGA-DX-A23U-01A-11D-A26G-09		17962994	225236379	9	2088											
LRP1B	53353	genome.wustl.edu	37	chr2	141004703	141004703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggctggcctttcacActgtgtgcctgaccagttgg	13	11	1	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr2:141004703A>G	ENST00000389484.3	-	87	14247	c.13276T>C	c.(13276-13278)Tgt>Cgt	p.C4426R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4426	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GGCCTTTCACACTGTGTGCCT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						104	97	99					2																	141004703		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.13276T>C	2.37:g.141004703A>G	ENSP00000374135:p.Cys4426Arg	Somatic	0	34	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C4426R	ENST00000389484.3	37	c.13276	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346974	0.82022	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.84660	-1.88	5.8	5.8	0.92144	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93900	0.8048	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.95090	0.8221	10	0.87932	D	0	.	16.1537	0.81640	1.0:0.0:0.0:0.0	.	4426	Q9NZR2	LRP1B_HUMAN	R	4426;4364	ENSP00000374135:C4426R	ENSP00000374135:C4426R	C	-	1	0	LRP1B	140721173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.051000	0.89446	2.213000	0.71641	0.528000	0.53228	TGT	-	smart_EG-like_dom,pfscan_EG-like_dom		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	A	NM_018557	-		141004703	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	G	G	141004703	A	G	141004703	3	3	31	1	0	0	0	0	1	0	0	0	8957	159	6	5	543	5	LRP1B	2	141004703	Missense_Mutation	SNP	A	TCGA-DX-A23U-01A-11D-A26G-09	123041709	141004703	102194670	10	2089											
LRP1B	53353	genome.wustl.edu	37	chr2	141598583	141598583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgccacattaatttgcGtttcatcaaattctgagcta	6	10	3	1	rs199519370	byFrequency	TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr2:141598583G>A	ENST00000389484.3	-	30	5989	c.5018C>T	c.(5017-5019)aCg>aTg	p.T1673M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1673					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.T1673K(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)		ATTAATTTGCGTTTCATCAAA	0.418										TSP Lung(27;0.18)			G|||	2	0.000399361	0	0	5008	,	,		14938	0.001		0	False		,,,				2504	0.001				Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	lung(1)						ENSG00000168702	G	MET/THR	0,4406		0,0,2203	136	123	127		5018	5.4	1	2		127	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRP1B	NM_018557.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1673/4600	141598583	2,13004	2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.5018C>T	2.37:g.141598583G>A	ENSP00000374135:p.Thr1673Met	Somatic	0	64	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	35	37.50	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T1673M	ENST00000389484.3	37	c.5018	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059924	0.76074	0.0	2.33E-4	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90261	-2.64	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.074341	0.52532	U	0.000071	D	0.91808	0.7408	L	0.40543	1.245	0.44221	D	0.997051	D	0.76494	0.999	P	0.56088	0.791	D	0.91784	0.5438	10	0.49607	T	0.09	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	1673	Q9NZR2	LRP1B_HUMAN	M	1673;1611	ENSP00000374135:T1673M	ENSP00000374135:T1673M	T	-	2	0	LRP1B	141315053	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	5.345000	0.65987	2.563000	0.86464	0.460000	0.39030	ACG	-	smart_LDLR_classB_rpt		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	rs199519370		141598583	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141598583	G	A	141598583	3	1	31	1	0	0	0	0	1	0	0	0	8957	1145	40	1	9029	1	LRP1B	2	141598583	Missense_Mutation	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	593880	141598583	101600790	11	2090											
COL6A3	1293	genome.wustl.edu	37	chr2	238285620	238285620	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgctggcccatccacAcggtcagatgaccttcctgc	8	15	1	2			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr2:238285620A>T	ENST00000295550.4	-	7	3317	c.2865T>A	c.(2863-2865)cgT>cgA	p.R955R	COL6A3_ENST00000392004.3_Silent_p.R749R|COL6A3_ENST00000353578.4_Silent_p.R749R|COL6A3_ENST00000346358.4_Silent_p.R755R|COL6A3_ENST00000392003.2_Silent_p.R548R|COL6A3_ENST00000472056.1_Silent_p.R348R|COL6A3_ENST00000347401.3_Silent_p.R754R|COL6A3_ENST00000409809.1_Silent_p.R749R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	955	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCATCCACACGGTCAGATG	0.542																																																	0								ENSG00000163359						165	132	143					2																	238285620		2203	4300	6503	COL6A3	SO:0001819	synonymous_variant	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2865T>A	2.37:g.238285620A>T		Somatic	0	36	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R955	ENST00000295550.4	37	c.2865	CCDS33412.1	2																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	A	NM_004369	-		238285620	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	SNP	0.001	T	T	238285620	A	T	238285620	2	4	31	1	0	0	0	0	0	0	0	1	3703	146	6	5		5	COL6A3	2	238285620	Silent	SNP	A	TCGA-DX-A23U-01A-11D-A26G-09	96687037	238285620	4913753	12	2091											
CHDH	55349	genome.wustl.edu	37	chr3	53857426	53857426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggcctgctgcgtggcctCcaggaatgcgcagtgcagcg	16	14	0	0			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr3:53857426C>T	ENST00000315251.6	-	3	1047	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	204					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCGTGGCCTCCAGGAATGCG	0.687																																																	0								ENSG00000016391						38	39	39					3																	53857426		2201	4300	6501	CHDH	SO:0001583	missense	0			-	HGNC	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.610G>A	3.37:g.53857426C>T	ENSP00000319851:p.Glu204Lys	Somatic	0	57	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	Q9NY17	Missense_Mutation	SNP							pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.E204K	ENST00000315251.6	37	c.610	CCDS2873.1	3	.	.	.	.	.	.	.	.	.	.	C	11.98	1.802071	0.31869	.	.	ENSG00000016391	ENST00000315251	T	0.40476	1.03	5.72	-0.019	0.13961	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.235426	0.42682	D	0.000670	T	0.29423	0.0733	L	0.41236	1.265	0.32765	N	0.504587	B	0.18013	0.025	B	0.19666	0.026	T	0.20140	-1.0284	10	0.32370	T	0.25	-16.5861	8.6626	0.34101	0.1083:0.3121:0.5158:0.0637	.	204	Q8NE62	CHDH_HUMAN	K	204	ENSP00000319851:E204K	ENSP00000319851:E204K	E	-	1	0	CHDH	53832466	1.000000	0.71417	0.886000	0.34754	0.160000	0.22226	2.392000	0.44433	-0.322000	0.08615	-0.312000	0.09012	GAG	-	pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase		0.687	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	protein_coding	OTTHUMT00000350567.2	C	NM_018397	-		53857426	-1	no_errors	ENST00000315251	ensembl	human	known	74_37	missense	SNP	0.998	T	T	53857426	C	T	53857426	3	4	31	1	0	0	0	0	1	0	0	0	3335	864	30	2	1202	2	CHDH	3	53857426	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09		53857426	144165004	13	2092											
CD96	10225	genome.wustl.edu	37	chr3	111342635	111342635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtgacccttgtagaTgtgagtgccttgaggccaaa	11	9	2	4			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr3:111342635T>A	ENST00000283285.5	+	10	1394	c.1263T>A	c.(1261-1263)gaT>gaA	p.D421E	CD96_ENST00000352690.4_Missense_Mutation_p.D405E	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	421	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCCTTGTAGATGTGAGTGCCT	0.378									Opitz Trigonocephaly syndrome																																								0								ENSG00000153283						99	89	92					3																	111342635		2203	4300	6503	CD96	SO:0001583	missense	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	-	HGNC	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1263T>A	3.37:g.111342635T>A	ENSP00000283285:p.Asp421Glu	Somatic	0	19	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q5JPB3	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.D421E	ENST00000283285.5	37	c.1263	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919193	0.52546	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.66815	-0.21;-0.23	4.0	0.246	0.15516	.	0.405915	0.22628	N	0.057607	T	0.46268	0.1384	L	0.29908	0.895	0.09310	N	1	B;B;B	0.23540	0.053;0.087;0.053	B;B;B	0.23018	0.019;0.043;0.019	T	0.36432	-0.9748	10	0.66056	D	0.02	-7.1982	2.6037	0.04873	0.1975:0.2214:0.0:0.5811	.	405;405;421	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	E	405;421	ENSP00000342040:D405E;ENSP00000283285:D421E	ENSP00000283285:D421E	D	+	3	2	CD96	112825325	0.005000	0.15991	0.003000	0.11579	0.003000	0.03518	-0.042000	0.12063	0.042000	0.15717	0.533000	0.62120	GAT	-	NULL		0.378	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	protein_coding	OTTHUMT00000354312.2	T		-		111342635	1	no_errors	ENST00000283285	ensembl	human	known	74_37	missense	SNP	0.004	A	A	111342635	T	A	111342635	3	1	31	1	0	0	0	0	1	0	0	0	3050	1461	51	5	1301	5	CD96	3	111342635	Missense_Mutation	SNP	T	TCGA-DX-A23U-01A-11D-A26G-09	57485209	111342635	86679795	14	2093											
COL6A5	256076	genome.wustl.edu	37	chr3	130162343	130162343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcaatcagtacccaccaCcgatgcttgaggatgcctgt	9	12	2	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr3:130162343C>T	ENST00000432398.2	+	36	7005	c.6511C>T	c.(6511-6513)Ccg>Tcg	p.P2171S	COL6A5_ENST00000265379.6_Missense_Mutation_p.P2171S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2171	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTACCCACCACCGATGCTTGA	0.373																																																	0								ENSG00000172752						95	90	92					3																	130162343		1852	4103	5955	COL6A5	SO:0001583	missense	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6511C>T	3.37:g.130162343C>T	ENSP00000390895:p.Pro2171Ser	Somatic	0	29	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P2171S	ENST00000432398.2	37	c.6511		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.850|6.850	0.526014|0.526014	0.13066|0.13066	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;D|.	0.90324|.	-2.57;-2.65;-1.22;-1.61|.	4.67|4.67	1.67|1.67	0.24075|0.24075	.|.	0.598474|.	0.14883|.	N|.	0.292846|.	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B|.	0.17465|.	0.022;0.017|.	B;B|.	0.17098|.	0.017;0.012|.	T|T	0.34675|0.34675	-0.9819|-0.9819	10|5	0.24483|.	T|.	0.36|.	.|.	7.5412|7.5412	0.27740|0.27740	0.0:0.4603:0.4445:0.0951|0.0:0.4603:0.4445:0.0951	.|.	2171;2171|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	S|I	2171;2171;114;6|422	ENSP00000390895:P2171S;ENSP00000265379:P2171S;ENSP00000362250:P114S;ENSP00000424968:P6S|.	ENSP00000265379:P2171S|.	P|T	+|+	1|2	0|0	COL6A5|COL6A5	131645033|131645033	0.001000|0.001000	0.12720|0.12720	0.142000|0.142000	0.22268|0.22268	0.159000|0.159000	0.22180|0.22180	0.385000|0.385000	0.20685|0.20685	0.687000|0.687000	0.31509|0.31509	-0.280000|-0.280000	0.10049|0.10049	CCG|ACC	-	NULL		0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		C	NM_153264	-		130162343	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	SNP	0.031	T	T	130162343	C	T	130162343	3	4	31	1	0	0	0	0	1	0	0	0	3704	507	18	2	6649	2	COL6A5	3	130162343	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	18819708	130162343	67860087	15	2094											
N4BP2	55728	genome.wustl.edu	37	chr4	40099030	40099030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaccctaaggaagttgtcGtatccagtgttgctagtcgt	10	9	0	0			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr4:40099030G>A	ENST00000261435.6	+	3	486	c.70G>A	c.(70-72)Gta>Ata	p.V24I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	24					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGAAGTTGTCGTATCCAGTGT	0.438																																																	0								ENSG00000078177						144	135	138					4																	40099030		2203	4300	6503	N4BP2	SO:0001583	missense	0			-	HGNC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.70G>A	4.37:g.40099030G>A	ENSP00000261435:p.Val24Ile	Somatic	0	33	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP							pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.V24I	ENST00000261435.6	37	c.70	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079112	0.55753	.	.	ENSG00000078177	ENST00000261435	T	0.19394	2.15	5.2	3.35	0.38373	.	0.858860	0.09476	N	0.796984	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	P	0.39404	0.672	B	0.22753	0.041	T	0.13361	-1.0512	10	0.54805	T	0.06	.	5.4239	0.16415	0.0767:0.141:0.6365:0.1457	.	24	Q86UW6	N4BP2_HUMAN	I	24	ENSP00000261435:V24I	ENSP00000261435:V24I	V	+	1	0	N4BP2	39775425	0.945000	0.32115	0.292000	0.24919	0.819000	0.46315	1.644000	0.37228	1.172000	0.42781	0.655000	0.94253	GTA	-	NULL		0.438	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	protein_coding	OTTHUMT00000250458.2	G	NM_018177	-		40099030	1	no_errors	ENST00000261435	ensembl	human	known	74_37	missense	SNP	0.035	A	A	40099030	G	A	40099030	3	1	31	1	0	0	0	0	1	0	0	0	10112	1145	40	1	72	1	N4BP2	4	40099030	Missense_Mutation	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09		40099030	151055246	16	2095											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41007433	41007433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggccagtgaacatacGcctatgtggtgggtactagg	13	9	0	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr5:41007433G>A	ENST00000399564.4	-	34	4182	c.3732C>T	c.(3730-3732)ggC>ggT	p.G1244G	MROH2B_ENST00000506092.2_Silent_p.G799G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1244																	GTGAACATACGCCTATGTGGT	0.438																																																	0								ENSG00000171495						57	54	55					5																	41007433		1886	4080	5966	MROH2B	SO:0001819	synonymous_variant	0			-	HGNC		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.3732C>T	5.37:g.41007433G>A		Somatic	0	107	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	51	35.44	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP							superfamily_ARM-type_fold	p.G1244	ENST00000399564.4	37	c.3732	CCDS47202.1	5																																																																																			-	superfamily_ARM-type_fold		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	G	NM_173489	-		41007433	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	silent	SNP	0.957	A	A	41007433	G	A	41007433	2	1	31	1	0	0	0	0	0	0	0	1	7037	1074	38	1		1	HEATR7B2	5	41007433	Silent	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09		41007433	139907827	17	2096											
CDO1	1036	genome.wustl.edu	37	chr5	115151960	115151960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgtacattgcccactcGgtggggtcgctctcgtaggc	14	12	1	0	rs199673192		TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr5:115151960G>A	ENST00000250535.4	-	1	691	c.135C>T	c.(133-135)acC>acT	p.T45T	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	45			T -> I (in dbSNP:rs1042867). {ECO:0000269|PubMed:7524679, ECO:0000269|PubMed:9497919}.		cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TTGCCCACTCGGTGGGGTCGC	0.612																																																	0								ENSG00000129596	G		0,4404		0,0,2202	147	132	137		135	3.4	1	5		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDO1	NM_001801.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		45/201	115151960	1,13003	2202	4300	6502	CDO1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"cysteine dioxygenase, type I"			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.135C>T	5.37:g.115151960G>A		Somatic	0	29	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	B2RAK4|P78513|Q6FHZ8|Q8TB64	Silent	SNP							pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.T45	ENST00000250535.4	37	c.135	CCDS4121.1	5																																																																																			-	pfam_Cys_dOase_I,superfamily_RmlC_Cupin		0.612	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	protein_coding	OTTHUMT00000250853.2	G	NM_001801	rs199673192		115151960	-1	no_errors	ENST00000250535	ensembl	human	known	74_37	silent	SNP	0.998	A	A	115151960	G	A	115151960	2	1	31	1	0	0	0	0	0	0	0	1	3171	1103	39	1		1	CDO1	5	115151960	Silent	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	74144527	115151960	65763300	18	2097											
FBN2	2201	genome.wustl.edu	37	chr5	127712460	127712460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttggagccaagacaaatcCtggtttgcagatgcacttga	10	8	0	3			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr5:127712460C>G	ENST00000508053.1	-	20	2910	c.1936G>C	c.(1936-1938)Gga>Cga	p.G646R	FBN2_ENST00000508989.1_Missense_Mutation_p.G613R|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.G646R			P35556	FBN2_HUMAN	fibrillin 2	646	EGF-like 9; 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)			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)		AAGACAAATCCTGGTTTGCAG	0.408																																																	0								ENSG00000138829						253	214	227					5																	127712460		2203	4300	6503	FBN2	SO:0001583	missense	0			-	HGNC	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.1936G>C	5.37:g.127712460C>G	ENSP00000424571:p.Gly646Arg	Somatic	0	36	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	B4DU01|Q59ES6	Missense_Mutation	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G646R	ENST00000508053.1	37	c.1936	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	30	5.049740	0.93740	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92595	-3.07;-3.07;-3.07	4.63	4.63	0.57726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.97492	0.9179	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98249	1.0492	10	0.87932	D	0	.	18.8146	0.92072	0.0:1.0:0.0:0.0	.	613;646	D6RJI3;P35556	.;FBN2_HUMAN	R	646;646;613	ENSP00000262464:G646R;ENSP00000424571:G646R;ENSP00000425596:G613R	ENSP00000262464:G646R	G	-	1	0	FBN2	127740359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGA	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.408	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	C	NM_001999	-		127712460	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	SNP	1.000	G	G	127712460	C	G	127712460	3	3	31	1	0	0	0	0	1	0	0	0	5705	690	24	4	7010	4	FBN2	5	127712460	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	12560500	127712460	53202800	19	2098											
TTYH3	80727	genome.wustl.edu	37	chr7	2696139	2696139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcagctccatcgtctgCagcgtcccgcacacctggca	9	16	2	0	rs200862283		TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr7:2696139C>T	ENST00000258796.7	+	11	1426	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C	TTYH3_ENST00000407643.1_Silent_p.C375C|TTYH3_ENST00000403167.1_Silent_p.C236C	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	407					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCATCGTCTGCAGCGTCCCGC	0.642																																																	0								ENSG00000136295						74	65	68					7																	2696139		2203	4300	6503	TTYH3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1221C>T	7.37:g.2696139C>T		Somatic	0	42	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	79	10.23	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP							pfam_Tweety	p.C407	ENST00000258796.7	37	c.1221	CCDS34588.1	7																																																																																			-	pfam_Tweety		0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTYH3	protein_coding	OTTHUMT00000325082.2	C	XM_166523	rs200862283		2696139	1	no_errors	ENST00000258796	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2696139	C	T	2696139	2	4	31	1	0	0	0	0	0	0	0	1	16748	718	25	2		2	TTYH3	7	2696139	Silent	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09		2696139	156442524	20	2099											
KIAA1549	57670	genome.wustl.edu	37	chr7	138554310	138554310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctctatgaacacggaGggcacgctggccgtggggtc	17	11	1	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr7:138554310G>A	ENST00000422774.1	-	14	4797	c.4749C>T	c.(4747-4749)ccC>ccT	p.P1583P	KIAA1549_ENST00000242365.4_Silent_p.P1533P|KIAA1549_ENST00000440172.1_Silent_p.P1583P			Q9HCM3	K1549_HUMAN	KIAA1549	1583						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGAACACGGAGGGCACGCTGG	0.677			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778						24	28	27					7																	138554310		2026	4153	6179	KIAA1549	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4749C>T	7.37:g.138554310G>A		Somatic	0	33	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP							NULL	p.P1583	ENST00000422774.1	37	c.4749	CCDS56513.1	7																																																																																			-	NULL		0.677	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	G		-		138554310	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	silent	SNP	0.992	A	A	138554310	G	A	138554310	2	1	31	1	0	0	0	0	0	0	0	1	8246	987	35	2		2	KIAA1549	7	138554310	Silent	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	135858171	138554310	20584353	21	2100											
OR2A12	346525	genome.wustl.edu	37	chr7	143792436	143792436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgagtactgtccctaAgatgctagcaaatcttgtga	9	10	1	2			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr7:143792436A>C	ENST00000408949.2	+	1	296	c.236A>C	c.(235-237)aAg>aCg	p.K79T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	79						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACTGTCCCTAAGATGCTAGCA	0.453																																																	0								ENSG00000221858						128	120	123					7																	143792436		2059	4206	6265	OR2A12	SO:0001583	missense	0			-	HGNC		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.236A>C	7.37:g.143792436A>C	ENSP00000386174:p.Lys79Thr	Somatic	0	48	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	Q6IF43	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K79T	ENST00000408949.2	37	c.236	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305176	0.40795	.	.	ENSG00000221858	ENST00000408949	T	0.09350	2.99	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15219	0.0367	M	0.63843	1.955	0.21740	N	0.999561	B	0.23854	0.092	B	0.27170	0.077	T	0.10636	-1.0621	9	0.87932	D	0	-20.7084	11.3678	0.49681	1.0:0.0:0.0:0.0	.	79	Q8NGT7	O2A12_HUMAN	T	79	ENSP00000386174:K79T	ENSP00000386174:K79T	K	+	2	0	OR2A12	143423369	0.000000	0.05858	0.974000	0.42286	0.925000	0.55904	0.036000	0.13819	1.788000	0.52465	0.413000	0.27773	AAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	protein_coding	OTTHUMT00000349969.1	A		-		143792436	1	no_errors	ENST00000408949	ensembl	human	known	74_37	missense	SNP	0.946	C	C	143792436	A	C	143792436	3	2	31	1	0	0	0	0	1	0	0	0	10977	72	3	5	238	5	OR2A12	7	143792436	Missense_Mutation	SNP	A	TCGA-DX-A23U-01A-11D-A26G-09	5238126	143792436	15346227	22	2101											
DNHD1	144132	genome.wustl.edu	37	chr11	6587557	6587557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggagcagctgagtccaCcccaggtgcagcctggcttc	13	14	0	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr11:6587557C>T	ENST00000527990.2	+	32	11140	c.11140C>T	c.(11140-11142)Ccc>Tcc	p.P3714S	DNHD1_ENST00000254579.6_Missense_Mutation_p.P3714S			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3714					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCTGAGTCCACCCCAGGTGCA	0.587																																																	0								ENSG00000179532						69	62	64					11																	6587557		692	1591	2283	DNHD1	SO:0001583	missense	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11140C>T	11.37:g.6587557C>T	ENSP00000436180:p.Pro3714Ser	Somatic	0	37	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	27	46.00	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.P3714S	ENST00000527990.2	37	c.11140	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537710	0.45176	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.25749	1.78;1.78	4.89	4.89	0.63831	.	.	.	.	.	T	0.32255	0.0823	N	0.14661	0.345	0.18873	N	0.999982	D	0.71674	0.998	D	0.64687	0.928	T	0.18681	-1.0329	9	0.66056	D	0.02	-7.0304	13.4354	0.61082	0.0:1.0:0.0:0.0	.	3714	Q96M86	DNHD1_HUMAN	S	3714	ENSP00000254579:P3714S;ENSP00000436180:P3714S	ENSP00000254579:P3714S	P	+	1	0	DNHD1	6544133	0.007000	0.16637	0.927000	0.36925	0.994000	0.84299	1.496000	0.35638	2.528000	0.85240	0.591000	0.81541	CCC	-	NULL		0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	C	NM_144666	-		6587557	1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	SNP	0.281	T	T	6587557	C	T	6587557	3	4	31	1	0	0	0	0	1	0	0	0	4670	507	18	2	11275	2	DNHD1	11	6587557	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09		6587557	128418959	23	2102											
OR4S1	256148	genome.wustl.edu	37	chr11	48327964	48327964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttcttcctgagccagTtgtcttttgctgacatatgt	8	8	2	2			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr11:48327964T>G	ENST00000319988.1	+	1	190	c.190T>G	c.(190-192)Ttg>Gtg	p.L64V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	64						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(12)|ovary(1)|skin(3)	21						CCTGAGCCAGTTGTCTTTTGC	0.453																																																	0								ENSG00000176555						208	165	180					11																	48327964		2201	4287	6488	OR4S1	SO:0001583	missense	0			-	HGNC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.190T>G	11.37:g.48327964T>G	ENSP00000321447:p.Leu64Val	Somatic	0	68	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	65	9.72	Q6IFB4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64V	ENST00000319988.1	37	c.190	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	T	14.63	2.594246	0.46214	.	.	ENSG00000176555	ENST00000319988	T	0.00587	6.38	5.02	-3.67	0.04476	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04634	0.0126	H	0.98048	4.135	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00419	-1.1751	9	0.87932	D	0	.	11.949	0.52944	0.0:0.4349:0.0:0.5651	.	64	Q8NGB4	OR4S1_HUMAN	V	64	ENSP00000321447:L64V	ENSP00000321447:L64V	L	+	1	2	OR4S1	48284540	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-2.242000	0.01195	-0.667000	0.05303	-0.912000	0.02778	TTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	protein_coding	OTTHUMT00000390556.1	T	NM_001004725	-		48327964	1	no_errors	ENST00000319988	ensembl	human	known	74_37	missense	SNP	0.000	G	G	48327964	T	G	48327964	3	3	31	1	0	0	0	0	1	0	0	0	11084	1722	60	5	192	5	OR4S1	11	48327964	Missense_Mutation	SNP	T	TCGA-DX-A23U-01A-11D-A26G-09	41740407	48327964	86678552	24	2103											
CLPB	81570	genome.wustl.edu	37	chr11	72091328	72091328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacagcccacacttaccttCcaaagaatggattccctgtt	7	13	0	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr11:72091328C>T	ENST00000294053.3	-	4	816	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CLPB_ENST00000543042.1_Missense_Mutation_p.E44K|CLPB_ENST00000538039.1_Missense_Mutation_p.E215K|CLPB_ENST00000437826.2_Missense_Mutation_p.E170K|CLPB_ENST00000445069.2_Missense_Mutation_p.E111K|CLPB_ENST00000340729.5_Missense_Mutation_p.E186K	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	215					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CACTTACCTTCCAAAGAATGG	0.512																																																	0								ENSG00000162129						124	118	120					11																	72091328		2200	4293	6493	CLPB	SO:0001583	missense	0			-	HGNC	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.643G>A	11.37:g.72091328C>T	ENSP00000294053:p.Glu215Lys	Somatic	0	35	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP							pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E215K	ENST00000294053.3	37	c.643	CCDS8215.1	11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512430	0.85389	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683;ENST00000539148	T;T;T;T;T;T;T;T	0.67865	1.92;0.04;2.12;0.04;2.47;0.07;0.04;-0.29	5.79	5.79	0.91817	Ankyrin repeat-containing domain (2);	0.058297	0.64402	D	0.000002	T	0.57844	0.2081	N	0.08118	0	0.43308	D	0.995313	P;P;P;P;D	0.55172	0.669;0.936;0.894;0.936;0.97	B;P;B;P;P	0.50049	0.265;0.595;0.391;0.595;0.629	T	0.66240	-0.5973	10	0.66056	D	0.02	.	16.7694	0.85533	0.0:1.0:0.0:0.0	.	44;186;170;215;215	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.;.;.;.;CLPB_HUMAN	K	215;215;220;186;170;44;69;69	ENSP00000294053:E215K;ENSP00000441518:E215K;ENSP00000443822:E220K;ENSP00000340385:E186K;ENSP00000407296:E170K;ENSP00000439746:E44K;ENSP00000442651:E69K;ENSP00000445327:E69K	ENSP00000294053:E215K	E	-	1	0	CLPB	71768976	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.356000	0.73046	2.736000	0.93811	0.561000	0.74099	GAA	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.512	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	protein_coding	OTTHUMT00000396889.1	C	NM_030813	-		72091328	-1	no_errors	ENST00000294053	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72091328	C	T	72091328	3	4	31	1	0	0	0	0	1	0	0	0	3553	864	30	2	1536	2	CLPB	11	72091328	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	23763364	72091328	62915188	25	2104											
STRN3	29966	genome.wustl.edu	37	chr14	31364784	31364784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatctgatggaacagtcatGgcctgtaaaagaacaaataa	8	6	2	2			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr14:31364784G>A	ENST00000357479.5	-	18	2423	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	STRN3_ENST00000355683.5_Missense_Mutation_p.H659Y	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	743					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GAACAGTCATGGCCTGTAAAA	0.338																																																	0								ENSG00000196792						80	74	76					14																	31364784		2203	4300	6503	STRN3	SO:0001583	missense	0			-	HGNC		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2227C>T	14.37:g.31364784G>A	ENSP00000350071:p.His743Tyr	Somatic	0	45	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP							pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H743Y	ENST00000357479.5	37	c.2227	CCDS41938.1	14	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249329	0.80024	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	L	0.31157	0.91	0.80722	D	1	D;D	0.62365	0.957;0.991	P;D	0.76575	0.828;0.988	T	0.71437	-0.4593	10	0.87932	D	0	-9.4596	19.4117	0.94675	0.0:0.0:1.0:0.0	.	659;743	Q13033-2;Q13033	.;STRN3_HUMAN	Y	659;743	ENSP00000347909:H659Y;ENSP00000350071:H743Y	ENSP00000347909:H659Y	H	-	1	0	STRN3	30434535	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.814000	0.99346	2.580000	0.87095	0.467000	0.42956	CAT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.338	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STRN3	protein_coding	OTTHUMT00000409713.1	G	NM_014574	-		31364784	-1	no_errors	ENST00000357479	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31364784	G	A	31364784	3	1	31	1	0	0	0	0	1	0	0	0	15337	1348	47	2	170	2	STRN3	14	31364784	Missense_Mutation	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09		31364784	75984756	26	2105											
EML5	161436	genome.wustl.edu	37	chr14	89168805	89168805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctggcctgttgccacGtagtctttcaaaggatgaat	9	11	2	1	rs371578525		TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr14:89168805G>A	ENST00000380664.5	-	14	2222	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	EML5_ENST00000352093.5_Silent_p.Y741Y|EML5_ENST00000554922.1_Silent_p.Y741Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	741						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCCACGTAGTCTTTCA	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		14776	0		0	False		,,,				2504	0																0								ENSG00000165521	G		2,3766		0,2,1882	88	81	83		2223	-2.2	1	14		83	0,8204		0,0,4102	no	coding-synonymous	EML5	NM_183387.2		0,2,5984	AA,AG,GG		0.0,0.0531,0.0167		741/1978	89168805	2,11970	1884	4102	5986	EML5	SO:0001819	synonymous_variant	0			-	HGNC	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2223C>T	14.37:g.89168805G>A		Somatic	0	34	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	15	53.12	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP							pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y741	ENST00000380664.5	37	c.2223	CCDS45148.1	14																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	protein_coding	OTTHUMT00000410491.1	G		-		89168805	-1	no_errors	ENST00000554922	ensembl	human	known	74_37	silent	SNP	1.000	A	A	89168805	G	A	89168805	2	1	31	1	0	0	0	0	0	0	0	1	5102	1140	40	1		1	EML5	14	89168805	Silent	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09	57804021	89168805	18180735	27	2106											
NDN	4692	genome.wustl.edu	37	chr15	23931596	23931596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccaaaagaactcgtattCgggcggctccacgtatggga	12	12	0	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr15:23931596C>T	ENST00000331837.4	-	1	854	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	257	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E257K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AACTCGTATTCGGGCGGCTCC	0.567									Prader-Willi syndrome																																								1	Substitution - Missense(1)	large_intestine(1)						ENSG00000182636						34	35	35					15																	23931596		2203	4299	6502	NDN	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	-	HGNC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.769G>A	15.37:g.23931596C>T	ENSP00000332643:p.Glu257Lys	Somatic	0	62	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	128	62	67.37	B2R6Z5	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.E257K	ENST00000331837.4	37	c.769	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609212	0.46527	.	.	ENSG00000182636	ENST00000331837	T	0.05081	3.5	3.5	2.56	0.30785	.	0.119074	0.53938	D	0.000044	T	0.11665	0.0284	L	0.32530	0.975	0.09310	N	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.15665	-1.0429	10	0.22109	T	0.4	.	8.8655	0.35282	0.0:0.7704:0.2296:0.0	.	257	Q99608	NECD_HUMAN	K	257	ENSP00000332643:E257K	ENSP00000332643:E257K	E	-	1	0	NDN	21482689	0.985000	0.35326	0.041000	0.18516	0.541000	0.35023	3.429000	0.52800	1.022000	0.39626	0.561000	0.74099	GAA	-	pfam_MAGE,pfscan_MAGE		0.567	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	protein_coding	OTTHUMT00000251226.2	C	NM_002487	-		23931596	-1	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	SNP	0.055	T	T	23931596	C	T	23931596	3	4	31	1	0	0	0	0	1	0	0	0	10249	893	31	1	200	1	NDN	15	23931596	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09		23931596	78599796	28	2107											
GGA2	23062	genome.wustl.edu	37	chr16	23499974	23499974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggagctcttgggccaggGagatggtgggggtaagattt	19	4	1	2			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr16:23499974G>A	ENST00000309859.4	-	6	614	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	GGA2_ENST00000567468.1_Missense_Mutation_p.P178S	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	178					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTGGGCCAGGGAGATGGTGGG	0.418																																																	0								ENSG00000103365						187	183	185					16																	23499974		2197	4300	6497	GGA2	SO:0001583	missense	0			-	HGNC	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.532C>T	16.37:g.23499974G>A	ENSP00000311962:p.Pro178Ser	Somatic	0	70	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	81	24.30	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP							pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.P178S	ENST00000309859.4	37	c.532	CCDS10611.1	16	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813461	0.70912	.	.	ENSG00000103365	ENST00000309859	T	0.16196	2.36	5.11	5.11	0.69529	.	0.541750	0.21480	N	0.073846	T	0.23688	0.0573	L	0.29908	0.895	0.47308	D	0.999386	D	0.53312	0.959	P	0.53689	0.732	T	0.00726	-1.1592	10	0.40728	T	0.16	-19.8505	16.4099	0.83704	0.0:0.0:1.0:0.0	.	178	Q9UJY4	GGA2_HUMAN	S	178	ENSP00000311962:P178S	ENSP00000311962:P178S	P	-	1	0	GGA2	23407475	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.857000	0.92250	2.538000	0.85594	0.643000	0.83706	CCC	-	NULL		0.418	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	protein_coding	OTTHUMT00000214019.1	G		-		23499974	-1	no_errors	ENST00000309859	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23499974	G	A	23499974	3	1	31	1	0	0	0	0	1	0	0	0	6355	1174	41	2	1357	2	GGA2	16	23499974	Missense_Mutation	SNP	G	TCGA-DX-A23U-01A-11D-A26G-09		23499974	66854779	29	2108											
BRD7	29117	genome.wustl.edu	37	chr16	50357558	50357558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaacatccagtaaactAtctgccatgacatacggata	6	9	1	1			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chr16:50357558A>G	ENST00000394688.3	-	12	1542	c.1383T>C	c.(1381-1383)gaT>gaC	p.D461D	BRD7_ENST00000394689.2_Silent_p.D461D			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	461					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCAGTAAACTATCTGCCATGA	0.423																																																	0								ENSG00000166164						126	106	113					16																	50357558		2198	4300	6498	BRD7	SO:0001819	synonymous_variant	0			-	HGNC	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1383T>C	16.37:g.50357558A>G		Somatic	0	54	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP							pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D461	ENST00000394688.3	37	c.1383	CCDS10742.1	16																																																																																			-	pfam_DUF3512		0.423	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	protein_coding	OTTHUMT00000256874.3	A	NM_013263	-		50357558	-1	no_errors	ENST00000394689	ensembl	human	known	74_37	silent	SNP	0.919	G	G	50357558	A	G	50357558	2	3	31	1	0	0	0	0	0	0	0	1	1507	446	16	5		5	BRD7	16	50357558	Silent	SNP	A	TCGA-DX-A23U-01A-11D-A26G-09	26857584	50357558	39997195	30	2109											
PAGE5	90737	genome.wustl.edu	37	chrX	55248262	55248262	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgataatcagggtatTgcacctagtggggagatcaa	11	8	2	2			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chrX:55248262T>A	ENST00000289619.5	+	3	449	c.204T>A	c.(202-204)atT>atA	p.I68I	PAGE5_ENST00000374955.3_Silent_p.I48I|PAGE5_ENST00000374952.1_Intron	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	68										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						ATCAGGGTATTGCACCTAGTG	0.453																																																	0								ENSG00000158639						109	76	87					X																	55248262		2203	4300	6503	PAGE5	SO:0001819	synonymous_variant	0			-	HGNC	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"cancer/testis antigen family 16, member 1", "cancer/testis antigen family 16, member 2"					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.204T>A	X.37:g.55248262T>A		Somatic	0	27	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	17	58.54	Q2NL97|Q5JUL0|Q8WWL9	Silent	SNP							pfam_GAGE	p.I68	ENST00000289619.5	37	c.204	CCDS14368.1	X																																																																																			-	pfam_GAGE		0.453	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAGE5	protein_coding	OTTHUMT00000056861.1	T	NM_130467	-		55248262	1	no_errors	ENST00000289619	ensembl	human	known	74_37	silent	SNP	0.004	A	A	55248262	T	A	55248262	2	1	31	1	0	0	0	0	0	0	0	1	11395	1800	63	5		5	PAGE5	23	55248262	Silent	SNP	T	TCGA-DX-A23U-01A-11D-A26G-09		55248262	100022298	31	2110											
ABCB7	22	genome.wustl.edu	37	chrX	74293529	74293529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattaaacatattaccttcaCagtttcataattcagcagtg	4	8	3	0			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chrX:74293529C>A	ENST00000373394.3	-	8	1034	c.1027G>T	c.(1027-1029)Gtg>Ttg	p.V343L	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V303L|ABCB7_ENST00000253577.3_Missense_Mutation_p.V344L			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	343	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTACCTTCACAGTTTCATAA	0.323																																																	0								ENSG00000131269						122	108	113					X																	74293529		2203	4300	6503	ABCB7	SO:0001583	missense	0			-	HGNC	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1027G>T	X.37:g.74293529C>A	ENSP00000362492:p.Val343Leu	Somatic	0	21	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	6	62.50	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V344L	ENST00000373394.3	37	c.1030		X	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593641	0.86953	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.38	5.38	0.77491	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	H	0.94808	3.585	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.919;0.999;0.999;0.951;0.999	D	0.99461	1.0943	10	0.87932	D	0	-23.9576	17.0046	0.86389	0.0:1.0:0.0:0.0	.	317;303;344;343;344	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	317;344;303;343;317	ENSP00000253577:V344L;ENSP00000343849:V303L;ENSP00000362492:V343L;ENSP00000436586:V317L	ENSP00000253577:V344L	V	-	1	0	ABCB7	74210254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.223000	0.72356	0.506000	0.49869	GTG	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.323	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	protein_coding	OTTHUMT00000057274.1	C	NM_004299	-		74293529	-1	no_errors	ENST00000253577	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74293529	C	A	74293529	3	1	31	1	0	0	0	0	1	0	0	0	46	478	17	3	1267	3	ABCB7	23	74293529	Missense_Mutation	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	19045267	74293529	80977031	32	2111											
MAP7D3	79649	genome.wustl.edu	37	chrX	135318413	135318413	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaactaaccacgtggcttCctttcggcttgttctttatc	7	11	1	0			TCGA-DX-A23U-01A-11D-A26G-09	TCGA-DX-A23U-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	571ba70b-dd96-423d-bd14-2160fe033925	0d978ebb-cdad-48a2-bc30-1d9abdd6e645	g.chrX:135318413C>T	ENST00000316077.9	-	7	946	c.726G>A	c.(724-726)agG>agA	p.R242R	MAP7D3_ENST00000370663.5_Silent_p.R224R|MAP7D3_ENST00000370661.1_Silent_p.R207R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	242					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACGTGGCTTCCTTTCGGCTT	0.333																																																	0								ENSG00000129680						97	87	90					X																	135318413		1825	4075	5900	MAP7D3	SO:0001819	synonymous_variant	0			-	HGNC	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.726G>A	X.37:g.135318413C>T		Somatic	0	52	0		0.685291202963828				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	20	63.64	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP							pfam_MAP7	p.R224	ENST00000316077.9	37	c.672	CCDS44004.1	X																																																																																			-	NULL		0.333	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	protein_coding	OTTHUMT00000058487.2	C		-		135318413	-1	no_errors	ENST00000370663	ensembl	human	known	74_37	silent	SNP	0.000	T	T	135318413	C	T	135318413	2	4	31	1	0	0	0	0	0	0	0	1	9271	854	30	2		2	MAP7D3	23	135318413	Silent	SNP	C	TCGA-DX-A23U-01A-11D-A26G-09	61024884	135318413	19952147	33	2112											
GTF3C2	2976	genome.wustl.edu	37	chr2	27560375	27560375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataacaagtgccacttccagGctaaaggaatccactcagca	7	12	1	0			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:27560375G>T	ENST00000359541.2	-	6	1430	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000608473.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A334D|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	334					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTTCCAGGCTAAAGGAAT	0.478																																																	0								ENSG00000115207						77	72	73					2																	27560375		2203	4300	6503	GTF3C2	SO:0001583	missense	0			-	HGNC	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1001C>A	2.37:g.27560375G>T	ENSP00000352536:p.Ala334Asp	Somatic	0	40	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A334D	ENST00000359541.2	37	c.1001	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.124172	0.94429	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.74315	-0.83;-0.83	5.79	5.79	0.91817	.	0.229658	0.44688	D	0.000426	T	0.80042	0.4551	L	0.29908	0.895	0.52099	D	0.999941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.963;0.999	T	0.78770	-0.2074	10	0.40728	T	0.16	-14.528	17.5436	0.87855	0.0:0.0:1.0:0.0	.	334;334;334	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	D	334	ENSP00000352536:A334D;ENSP00000264720:A334D	ENSP00000264720:A334D	A	-	2	0	GTF3C2	27413879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.450000	0.44943	2.753000	0.94483	0.557000	0.71058	GCC	-	NULL		0.478	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	protein_coding	OTTHUMT00000215028.2	G		-		27560375	-1	no_errors	ENST00000264720	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27560375	G	T	27560375	3	4	32	1	0	0	0	0	1	0	0	0	6875	1203	42	3	1790	3	GTF3C2	2	27560375	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		27560375	215638998	1	2113											
MARCH7	64844	genome.wustl.edu	37	chr2	160585652	160585652	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatgatacctatcactcaaGagactcttcatttagattgg	6	8	4	3			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:160585652G>T	ENST00000259050.4	+	2	241	c.119G>T	c.(118-120)aGa>aTa	p.R40I	MARCH7_ENST00000539065.1_Missense_Mutation_p.R40I|MARCH7_ENST00000409175.1_Missense_Mutation_p.R40I|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	40	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TATCACTCAAGAGACTCTTCA	0.373																																																	0								ENSG00000136536						66	67	67					2																	160585652		2203	4300	6503	MARCH7	SO:0001583	missense	0			-	HGNC	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.119G>T	2.37:g.160585652G>T	ENSP00000259050:p.Arg40Ile	Somatic	0	56	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R40I	ENST00000259050.4	37	c.119	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503099	0.64298	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037	T;T;T;T	0.55930	1.94;2.03;1.94;0.49	5.9	5.9	0.94986	.	0.047973	0.85682	D	0.000000	T	0.71542	0.3352	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.72462	-0.4286	10	0.87932	D	0	-3.1666	18.0481	0.89338	0.0:0.0:1.0:0.0	.	40;40	F5H6W4;Q9H992	.;MARH7_HUMAN	I	40	ENSP00000386830:R40I;ENSP00000442992:R40I;ENSP00000259050:R40I;ENSP00000392862:R40I	ENSP00000259050:R40I	R	+	2	0	MARCH7	160293898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.924000	0.70054	2.800000	0.96347	0.455000	0.32223	AGA	-	NULL		0.373	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	protein_coding	OTTHUMT00000255040.3	G	NM_022826	-		160585652	1	no_errors	ENST00000259050	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160585652	G	T	160585652	3	4	32	1	0	0	0	0	1	0	0	0	9308	942	33	3	121	3	MARCH7	2	160585652	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09	133025277	160585652	82613721	2	2114											
SATB2	23314	genome.wustl.edu	37	chr2	200213845	200213845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttggtaaatgcattggaCgctggcccagaacacaatag	10	8	0	1			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr2:200213845C>T	ENST00000417098.1	-	7	1568	c.752G>A	c.(751-753)cGt>cAt	p.R251H	SATB2_ENST00000260926.5_Missense_Mutation_p.R251H|SATB2_ENST00000457245.1_Missense_Mutation_p.R251H|SATB2_ENST00000443023.1_Missense_Mutation_p.R192H|SATB2_ENST00000428695.1_Missense_Mutation_p.R133H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	251					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGCATTGGACGCTGGCCCAG	0.413																																					Colon(30;262 767 11040 24421 36230)												0								ENSG00000119042						138	124	129					2																	200213845		2203	4300	6503	SATB2	SO:0001583	missense	0			-	HGNC	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.752G>A	2.37:g.200213845C>T	ENSP00000401112:p.Arg251His	Somatic	0	116	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	94	18.26	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R251H	ENST00000417098.1	37	c.752	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869393	0.51588	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.47	5.47	0.80525	.	0.143132	0.46442	D	0.000290	T	0.44685	0.1305	N	0.08118	0	0.38184	D	0.939698	B;D	0.69078	0.291;0.997	B;P	0.56865	0.02;0.808	T	0.46721	-0.9171	10	0.23891	T	0.37	-9.9323	19.692	0.96007	0.0:1.0:0.0:0.0	.	133;251	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	251;192;251;133;251	ENSP00000401112:R251H;ENSP00000388764:R192H;ENSP00000260926:R251H;ENSP00000388581:R133H;ENSP00000405420:R251H	ENSP00000260926:R251H	R	-	2	0	SATB2	199922090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	2.735000	0.93741	0.655000	0.94253	CGT	-	NULL		0.413	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	protein_coding	OTTHUMT00000256140.1	C	NM_015265	-		200213845	-1	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	SNP	1.000	T	T	200213845	C	T	200213845	3	4	32	1	0	0	0	0	1	0	0	0	13862	536	19	1	1469	1	SATB2	2	200213845	Missense_Mutation	SNP	C	TCGA-DX-A23V-01A-11D-A29N-09	39628193	200213845	42985528	3	2115											
KLHL6	89857	genome.wustl.edu	37	chr3	183211912	183211912	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgtaggtctccacattgttGattctctgtaagccgtcaaa	8	10	3	1			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr3:183211912G>A	ENST00000341319.3	-	5	1340	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	435					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.I435I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCACATTGTTGATTCTCTGTA	0.453																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000172578						256	239	245					3																	183211912		2203	4300	6503	KLHL6	SO:0001819	synonymous_variant	0			-	HGNC	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1305C>T	3.37:g.183211912G>A		Somatic	0	51	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I435	ENST00000341319.3	37	c.1305	CCDS3245.2	3																																																																																			-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.453	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	protein_coding	OTTHUMT00000309024.1	G	NM_130446	-		183211912	-1	no_errors	ENST00000341319	ensembl	human	known	74_37	silent	SNP	1.000	A	A	183211912	G	A	183211912	2	1	32	1	0	0	0	0	0	0	0	1	8395	1280	45	2		2	KLHL6	3	183211912	Silent	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		183211912	14810518	4	2116											
PRRC1	133619	genome.wustl.edu	37	chr5	126859274	126859274	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctacccctgttccattaGgtacatgtagttgtctaaca	6	11	2	0			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr5:126859274G>T	ENST00000296666.8	+	2	291	c.103G>T	c.(103-105)Gcg>Tcg	p.A35S	PRRC1_ENST00000442138.2_Splice_Site_p.A35S|PRRC1_ENST00000512635.2_Splice_Site_p.A35S	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	35	Pro-rich.					Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TGTTCCATTAGGTACATGTAG	0.413																																																	0								ENSG00000164244						143	116	125					5																	126859274		2203	4300	6503	PRRC1	SO:0001630	splice_region_variant	0			-	HGNC	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.103+1G>T	5.37:g.126859274G>T		Somatic	0	70	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP							pfam_NTPase/PRRC1	p.A35S	ENST00000296666.8	37	c.103	CCDS4143.1	5	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123072	0.56613	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	4.77	4.77	0.60923	.	0.262538	0.36519	N	0.002553	T	0.58680	0.2139	L	0.29908	0.895	0.42662	D	0.993488	P;D	0.60160	0.888;0.987	B;P	0.56088	0.287;0.791	T	0.57400	-0.7818	9	0.37606	T	0.19	-23.2415	15.0116	0.71555	0.0:0.0:1.0:0.0	.	35;35	Q96M27;Q96M27-5	PRRC1_HUMAN;.	S	35	.	ENSP00000296666:A35S	A	+	1	0	PRRC1	126887173	1.000000	0.71417	0.890000	0.34922	0.022000	0.10575	6.687000	0.74552	2.630000	0.89119	0.555000	0.69702	GCG	-	NULL		0.413	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	protein_coding	OTTHUMT00000250971.3	G	NM_130809	-	Missense_Mutation	126859274	1	no_errors	ENST00000512635	ensembl	human	known	74_37	missense	SNP	0.992	T	T	126859274	G	T	126859274	5	4	32	1	0	0	0	0	0	0	1	0	12609	1014	35	3	105	3	PRRC1	5	126859274	Splice_Site	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		126859274	54055986	5	2117											
PKHD1	5314	genome.wustl.edu	37	chr6	51524066	51524066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacagtagggcaattgcGctttctttttgctctactgt	9	9	3	0	rs557405366		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr6:51524066G>A	ENST00000371117.3	-	61	11133	c.10858C>T	c.(10858-10860)Cgc>Tgc	p.R3620C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3620					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.R3620C(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)					GGGCAATTGCGCTTTCTTTTT	0.448																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000170927						127	126	126					6																	51524066		2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	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.10858C>T	6.37:g.51524066G>A	ENSP00000360158:p.Arg3620Cys	Somatic	0	66	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	26.67	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.R3620C	ENST00000371117.3	37	c.10858	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213687	0.79352	.	.	ENSG00000170927	ENST00000371117	D	0.87029	-2.2	5.92	5.92	0.95590	.	0.347900	0.28279	N	0.015926	D	0.88629	0.6488	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.57846	0.828	D	0.89626	0.3852	10	0.87932	D	0	.	12.5138	0.56019	0.0835:0.0:0.9165:0.0	.	3620	P08F94	PKHD1_HUMAN	C	3620	ENSP00000360158:R3620C	ENSP00000360158:R3620C	R	-	1	0	PKHD1	51632025	0.983000	0.35010	0.999000	0.59377	0.965000	0.64279	4.831000	0.62752	2.801000	0.96364	0.650000	0.86243	CGC	-	NULL		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	-		51524066	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	0.999	A	A	51524066	G	A	51524066	3	1	32	1	0	0	0	0	1	0	0	0	11973	1087	38	1	1394	1	PKHD1	6	51524066	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		51524066	119591001	6	2118											
ZNF479	90827	genome.wustl.edu	37	chr7	57188683	57188683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtagttgacaaacattGgttaacttcactataacctc	7	8	1	1			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr7:57188683G>T	ENST00000331162.4	-	5	709	c.439C>A	c.(439-441)Caa>Aaa	p.Q147K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	147					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GACAAACATTGGTTAACTTCA	0.303																																																	0								ENSG00000185177						91	85	87					7																	57188683		1857	4112	5969	ZNF479	SO:0001583	missense	0			-	HGNC	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.439C>A	7.37:g.57188683G>T	ENSP00000333776:p.Gln147Lys	Somatic	0	119	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	83	27.83		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q147K	ENST00000331162.4	37	c.439	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	11.38	1.622934	0.28889	.	.	ENSG00000185177	ENST00000331162	T	0.37584	1.19	1.6	1.6	0.23607	.	.	.	.	.	T	0.44726	0.1307	L	0.45137	1.4	0.09310	N	1	D	0.54964	0.969	D	0.64877	0.93	T	0.16041	-1.0416	9	0.51188	T	0.08	.	6.5504	0.22431	0.0:0.0:1.0:0.0	.	147	Q96JC4	ZN479_HUMAN	K	147	ENSP00000333776:Q147K	ENSP00000333776:Q147K	Q	-	1	0	ZNF479	57192625	0.000000	0.05858	0.017000	0.16124	0.019000	0.09904	-0.180000	0.09754	0.867000	0.35654	0.400000	0.26472	CAA	-	NULL		0.303	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	protein_coding	OTTHUMT00000345302.1	G	XM_291202	-		57188683	-1	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	SNP	0.046	T	T	57188683	G	T	57188683	3	4	32	1	0	0	0	0	1	0	0	0	17940	1357	47	3	1139	3	ZNF479	7	57188683	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		57188683	101949980	7	2119											
ANAPC2	29882	genome.wustl.edu	37	chr9	140074930	140074930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacttcacagaagtgcaTtggggcctcgccaaagcgca	11	12	1	2			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr9:140074930T>C	ENST00000323927.2	-	9	1664	c.1660A>G	c.(1660-1662)Atg>Gtg	p.M554V		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	554					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CAGAAGTGCATTGGGGCCTCG	0.672																																																	0								ENSG00000176248						65	71	69					9																	140074930		2203	4300	6503	ANAPC2	SO:0001583	missense	0			-	HGNC	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1660A>G	9.37:g.140074930T>C	ENSP00000314004:p.Met554Val	Somatic	0	37	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP							pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.M554V	ENST00000323927.2	37	c.1660	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984902	0.74474	.	.	ENSG00000176248	ENST00000323927	T	0.73047	-0.71	5.33	5.33	0.75918	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.82193	2.58	0.80722	D	1	P;P	0.44578	0.838;0.806	P;B	0.46144	0.505;0.372	T	0.81206	-0.1038	10	0.66056	D	0.02	-39.7877	13.2199	0.59881	0.0:0.0:0.0:1.0	.	554;551	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	V	554	ENSP00000314004:M554V	ENSP00000314004:M554V	M	-	1	0	ANAPC2	139194751	1.000000	0.71417	0.904000	0.35570	0.837000	0.47467	3.644000	0.54381	2.009000	0.58944	0.379000	0.24179	ATG	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.672	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	protein_coding	OTTHUMT00000055315.1	T	NM_013366	-		140074930	-1	no_errors	ENST00000323927	ensembl	human	known	74_37	missense	SNP	0.995	C	C	140074930	T	C	140074930	3	2	32	1	0	0	0	0	1	0	0	0	603	1493	52	5	828	5	ANAPC2	9	140074930	Missense_Mutation	SNP	T	TCGA-DX-A23V-01A-11D-A29N-09		140074930	1138501	8	2120											
MFRP	83552	genome.wustl.edu	37	chr11	119216560	119216560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaggtggtgatggtgGgggtggtggtggtcgtggta	23	3	0	2			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr11:119216560G>T	ENST00000530681.1	-	4	494	c.350C>A	c.(349-351)cCc>cAc	p.P117H	MFRP_ENST00000555262.1_Missense_Mutation_p.P117H|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P117H|MFRP_ENST00000360167.4_Missense_Mutation_p.P117H|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	117	Poly-Thr.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ggtgatggtgggggtggtggt	0.657																																																	0								ENSG00000235718						47	53	51					11																	119216560		2199	4295	6494	MFRP	SO:0001583	missense	0			-	HGNC	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.350C>A	11.37:g.119216560G>T	ENSP00000456533:p.Pro117His	Somatic	0	28	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	25	56.14	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P117H	ENST00000530681.1	37	c.350	CCDS8421.1	11	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679321	0.29783	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.68765	-0.35;-0.35;1.69	4.15	1.07	0.20283	.	1.069120	0.07247	N	0.865284	T	0.52075	0.1712	L	0.34521	1.04	0.09310	N	1	P;B	0.40619	0.724;0.289	B;B	0.40901	0.343;0.06	T	0.34601	-0.9822	10	0.15499	T	0.54	-0.3369	4.9736	0.14129	0.2048:0.1883:0.6069:0.0	.	117;117	B4DHN8;Q9BY79	.;MFRP_HUMAN	H	117	ENSP00000450509:P117H;ENSP00000391664:P117H;ENSP00000353291:P117H	ENSP00000353291:P117H	P	-	2	0	MFRP	118721770	0.001000	0.12720	0.000000	0.03702	0.269000	0.26545	0.125000	0.15749	0.116000	0.18110	-0.311000	0.09066	CCC	-	NULL		0.657	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	protein_coding	OTTHUMT00000415179.1	G	NM_031433	-		119216560	-1	no_errors	ENST00000449574	ensembl	human	known	74_37	missense	SNP	0.000	T	T	119216560	G	T	119216560	3	4	32	1	0	0	0	0	1	0	0	0	9528	1232	43	3	1429	3	MFRP	11	119216560	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		119216560	15789956	9	2121											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58022646	58022646	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgatcataacggaggaaggtCttggtggcaatcgtgactag	14	7	2	1			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr12:58022646C>A	ENST00000341156.4	-	8	1436	c.852G>T	c.(850-852)aaG>aaT	p.K284N	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.K229N|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.K251N	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	284					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)			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)			GGAGGAAGGTCTTGGTGGCAA	0.577																																																	0								ENSG00000135454						84	77	80					12																	58022646		2203	4300	6503	B4GALNT1	SO:0001583	missense	0			-	HGNC	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.852G>T	12.37:g.58022646C>A	ENSP00000341562:p.Lys284Asn	Somatic	0	80	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	658	8.34	B4DE26|Q8N636	Missense_Mutation	SNP							pfam_Glyco_trans_2,pirsf_GM2_synthase	p.K284N	ENST00000341156.4	37	c.852	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	24.3	4.518128	0.85495	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.61274	0.12;0.12	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.051303	0.85682	D	0.000000	T	0.79028	0.4377	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;D;D	0.97110	0.975;0.911;1.0	T	0.82462	-0.0445	10	0.72032	D	0.01	-12.1872	10.8265	0.46635	0.0:0.9128:0.0:0.0872	.	251;229;284	B4DSP5;B4DE26;Q00973	.;.;B4GN1_HUMAN	N	284;229	ENSP00000341562:K284N;ENSP00000401601:K229N	ENSP00000341562:K284N	K	-	3	2	B4GALNT1	56308913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.282000	0.33226	2.640000	0.89533	0.655000	0.94253	AAG	-	pfam_Glyco_trans_2,pirsf_GM2_synthase		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	C	NM_001478	-		58022646	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58022646	C	A	58022646	3	1	32	1	0	0	0	0	1	0	0	0	1266	912	32	3	765	3	B4GALNT1	12	58022646	Missense_Mutation	SNP	C	TCGA-DX-A23V-01A-11D-A29N-09		58022646	75829249	10	2122											
TRPV4	59341	genome.wustl.edu	37	chr12	110224582	110224582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccatctccccagagcGgaaggccttcctcaggaata	11	13	2	2			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr12:110224582G>A	ENST00000418703.2	-	13	2363	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	TRPV4_ENST00000392719.2_Missense_Mutation_p.R710C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCCCAGAGCGGAAGGCCTTC	0.662																																																	0								ENSG00000111199						90	66	74					12																	110224582		2203	4300	6503	TRPV4	SO:0001583	missense	0			-	HGNC	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2269C>T	12.37:g.110224582G>A	ENSP00000406191:p.Arg757Cys	Somatic	0	58	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.63	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.R757C	ENST00000418703.2	37	c.2269	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870825	0.91587	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.82193	2.58	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	0.91635	0.999;0.998;0.999;0.996;0.997	D	0.95905	0.8918	10	0.87932	D	0	-31.3539	16.8762	0.86052	0.0:0.0:1.0:0.0	.	697;757;650;710;723	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	757;757;710;697;650;697;710;723	ENSP00000406191:R757C;ENSP00000261740:R757C;ENSP00000376480:R710C;ENSP00000319003:R697C;ENSP00000443611:R650C;ENSP00000442738:R697C;ENSP00000442167:R710C;ENSP00000444336:R723C	ENSP00000261740:R757C	R	-	1	0	TRPV4	108708965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.827000	0.69300	2.645000	0.89757	0.655000	0.94253	CGC	-	tigrfam_TRP_channel		0.662	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	protein_coding	OTTHUMT00000403270.1	G	NM_021625	-		110224582	-1	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110224582	G	A	110224582	3	1	32	1	0	0	0	0	1	0	0	0	16605	1116	39	1	358	1	TRPV4	12	110224582	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09	52201936	110224582	23627313	11	2123											
DAAM1	23002	genome.wustl.edu	37	chr14	59827519	59827519	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacattgctatttacaacaGcatgactgagctggacaaag	8	8	0	2			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr14:59827519G>A	ENST00000395125.1	+	22	2686		c.e22-1		DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATTTACAACAGCATGACTGAG	0.343																																																	0								ENSG00000100592						148	134	139					14																	59827519		2203	4300	6503	DAAM1	SO:0001630	splice_region_variant	0			-	HGNC	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2664-1G>A	14.37:g.59827519G>A		Somatic	0	44	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q86U34|Q8N1Z8|Q8TB39	Splice_Site	SNP							-	e22-1	ENST00000395125.1	37	c.2664-1	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353763	0.82243	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM1	58897272	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.469000	0.97679	2.873000	0.98535	0.563000	0.77884	.	-	-		0.343	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	protein_coding	OTTHUMT00000276942.2	G	NM_014992	-	Intron	59827519	1	no_errors	ENST00000351081	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	59827519	G	A	59827519	5	1	32	1	0	0	0	0	0	0	1	0	4217	985	34	2	2749	2	DAAM1	14	59827519	Splice_Site	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		59827519	47522021	12	2124											
ATP2A3	489	genome.wustl.edu	37	chr17	3854655	3854655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctcatactccttcaggGcctcgatggcactctcggcg	11	15	3	0			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:3854655G>T	ENST00000352011.3	-	5	407	c.353C>A	c.(352-354)gCc>gAc	p.A118D	ATP2A3_ENST00000359983.3_Missense_Mutation_p.A118D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A118D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A118D|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A118D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A118D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	118					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTCCTTCAGGGCCTCGATGGC	0.637																																					GBM(32;29 774 15719 37967)												0								ENSG00000074370						69	60	63					17																	3854655		2203	4300	6503	ATP2A3	SO:0001583	missense	0			-	HGNC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.353C>A	17.37:g.3854655G>T	ENSP00000301387:p.Ala118Asp	Somatic	0	23	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A118D	ENST00000352011.3	37	c.353	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247568	0.80024	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	3.56	2.57	0.30868	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.998;0.98;0.988;0.98;0.98;0.98	D	0.96861	0.9632	10	0.87932	D	0	.	12.8983	0.58111	0.0:0.1652:0.8348:0.0	.	118;118;118;118;118;118	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	118	ENSP00000380236:A118D;ENSP00000301387:A118D;ENSP00000353072:A118D;ENSP00000380234:A118D;ENSP00000312577:A118D;ENSP00000380229:A118D	ENSP00000312577:A118D	A	-	2	0	ATP2A3	3801404	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.246000	0.95438	1.055000	0.40461	0.407000	0.27541	GCC	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase		0.637	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	G	NM_174953	-		3854655	-1	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3854655	G	T	3854655	3	4	32	1	0	0	0	0	1	0	0	0	1138	1203	42	3	2925	3	ATP2A3	17	3854655	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		3854655	77340555	13	2125											
SREBF1	6720	genome.wustl.edu	37	chr17	17722392	17722392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgatggaggagcggtAgcgcttctcaatggcgttgt	15	7	2	1			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr17:17722392A>G	ENST00000261646.5	-	5	1187	c.1003T>C	c.(1003-1005)Tac>Cac	p.Y335H	SREBF1_ENST00000355815.4_Missense_Mutation_p.Y365H|SREBF1_ENST00000435530.2_Missense_Mutation_p.Y335H|SREBF1_ENST00000395757.1_Missense_Mutation_p.Y81H|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.Y335H	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	335	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGGAGCGGTAGCGCTTCTCA	0.617																																																	0								ENSG00000072310						98	91	93					17																	17722392		2203	4300	6503	SREBF1	SO:0001583	missense	0			-	HGNC	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1003T>C	17.37:g.17722392A>G	ENSP00000261646:p.Tyr335His	Somatic	0	58	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Y365H	ENST00000261646.5	37	c.1093	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.96|14.96	2.690747|2.690747	0.48097|0.48097	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|D;D;D;D;D	.|0.98178	.|-4.77;-4.77;-4.77;-4.77;-4.77	4.62|4.62	4.62|4.62	0.57501|0.57501	.|Helix-loop-helix DNA-binding (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99180|0.99180	0.9716|0.9716	H|H	0.94264|0.94264	3.515|3.515	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	.|0.97110	.|0.999;1.0;1.0;0.999	D|D	0.99164|0.99164	1.0862|1.0862	5|10	.|0.87932	.|D	.|0	-5.6582|-5.6582	13.6947|13.6947	0.62569|0.62569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|335;311;335;365	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	P|H	342|335;365;335;81;172;261;335	.|ENSP00000345822:Y335H;ENSP00000348069:Y365H;ENSP00000261646:Y335H;ENSP00000379106:Y81H;ENSP00000413389:Y335H	.|ENSP00000261646:Y335H	L|Y	-|-	2|1	0|0	SREBF1|SREBF1	17663117|17663117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.134000|9.134000	0.94467|0.94467	1.707000|1.707000	0.51288|0.51288	0.459000|0.459000	0.35465|0.35465	CTA|TAC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.617	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	protein_coding	OTTHUMT00000131771.1	A	NM_004176	-		17722392	-1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	SNP	1.000	G	G	17722392	A	G	17722392	3	3	32	1	0	0	0	0	1	0	0	0	15148	420	15	5	2500	5	SREBF1	17	17722392	Missense_Mutation	SNP	A	TCGA-DX-A23V-01A-11D-A29N-09	13867737	17722392	63472818	14	2126											
COL5A3	50509	genome.wustl.edu	37	chr19	10091766	10091766	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactgtctattttcttactgGtggtccccgctctccttcca	6	15	3	0			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:10091766G>C	ENST00000264828.3	-	33	2588	c.2503C>G	c.(2503-2505)Cca>Gca	p.P835A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	835	Collagen-like 3.|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)			TTTCTTACTGGTGGTCCCCGC	0.542																																																	0								ENSG00000080573						109	89	96					19																	10091766		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.2503C>G	19.37:g.10091766G>C	ENSP00000264828:p.Pro835Ala	Somatic	0	36	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P835A	ENST00000264828.3	37	c.2503	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367498	0.24771	.	.	ENSG00000080573	ENST00000264828	D	0.83335	-1.71	4.81	3.7	0.42460	.	0.262006	0.31989	N	0.006759	T	0.79137	0.4395	L	0.38733	1.17	0.34653	D	0.72185	D	0.55605	0.972	P	0.51615	0.675	T	0.80339	-0.1424	10	0.25106	T	0.35	.	9.5791	0.39477	0.0:0.0:0.6611:0.3389	.	835	P25940	CO5A3_HUMAN	A	835	ENSP00000264828:P835A	ENSP00000264828:P835A	P	-	1	0	COL5A3	9952766	1.000000	0.71417	0.911000	0.35937	0.823000	0.46562	3.637000	0.54324	2.220000	0.72140	0.313000	0.20887	CCA	-	NULL		0.542	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10091766	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.997	C	C	10091766	G	C	10091766	3	2	32	1	0	0	0	0	1	0	0	0	3700	1261	44	4	2874	4	COL5A3	19	10091766	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		10091766	49037217	15	2127											
AP2A1	160	genome.wustl.edu	37	chr19	50303239	50303239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaggtcctgaaggtggcCatcctggccgagaagtacgc	15	12	0	2			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:50303239C>T	ENST00000359032.5	+	11	1287	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	AP2A1_ENST00000354293.5_Silent_p.A429A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	429					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGAAGGTGGCCATCCTGGCCG	0.627																																																	0								ENSG00000196961						68	75	72					19																	50303239		2120	4238	6358	AP2A1	SO:0001819	synonymous_variant	0			-	HGNC	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1287C>T	19.37:g.50303239C>T		Somatic	0	40	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.A429	ENST00000359032.5	37	c.1287	CCDS46148.1	19																																																																																			-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.627	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	protein_coding	OTTHUMT00000465809.1	C		-		50303239	1	no_errors	ENST00000354293	ensembl	human	known	74_37	silent	SNP	1.000	T	T	50303239	C	T	50303239	2	4	32	1	0	0	0	0	0	0	0	1	739	581	21	2		2	AP2A1	19	50303239	Silent	SNP	C	TCGA-DX-A23V-01A-11D-A29N-09	40211473	50303239	8825744	16	2128											
ZNF880	400713	genome.wustl.edu	37	chr19	52887558	52887558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagaagccttacaagtGtcatgaatgtggcaagctct	12	7	2	2			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr19:52887558G>A	ENST00000422689.2	+	4	740	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	242					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CCTTACAAGTGTCATGAATGT	0.388																																																	0								ENSG00000221923						39	37	37					19																	52887558		1568	3582	5150	ZNF880	SO:0001583	missense	0			-	HGNC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.725G>A	19.37:g.52887558G>A	ENSP00000406318:p.Cys242Tyr	Somatic	0	32	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B4DNA6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C242Y	ENST00000422689.2	37	c.725	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	9.260	1.042884	0.19748	.	.	ENSG00000221923	ENST00000422689	D	0.85088	-1.94	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94105	0.8110	H	0.96015	3.755	0.27972	N	0.936389	D	0.89917	1.0	D	0.97110	1.0	D	0.86479	0.1790	8	.	.	.	.	11.0678	0.47985	0.0:0.0:1.0:0.0	.	242	Q6PDB4	ZN880_HUMAN	Y	242	ENSP00000406318:C242Y	.	C	+	2	0	ZNF880	57579370	1.000000	0.71417	0.052000	0.19188	0.115000	0.19883	7.322000	0.79097	1.110000	0.41699	0.551000	0.68910	TGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	protein_coding	OTTHUMT00000397374.1	G	NM_001145434	-		52887558	1	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	SNP	0.735	A	A	52887558	G	A	52887558	3	1	32	1	0	0	0	0	1	0	0	0	18204	1377	48	2	739	2	ZNF880	19	52887558	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09	2584319	52887558	6241425	17	2129											
PPARA	5465	genome.wustl.edu	37	chr22	46594478	46594478	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctggctcagatggctcGgtcatcacgggtaagtgtgc	14	10	3	1	rs369963518		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chr22:46594478G>C	ENST00000396000.2	+	3	463	c.198G>C	c.(196-198)tcG>tcC	p.S66S	PPARA_ENST00000402126.1_Silent_p.S66S|PPARA_ENST00000407236.1_Silent_p.S66S|PPARA_ENST00000262735.5_Silent_p.S66S|PPARA_ENST00000434345.2_Silent_p.S66S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	66					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAGATGGCTCGGTCATCACGG	0.403																																																	0								ENSG00000186951						63	67	66					22																	46594478		2203	4300	6503	PPARA	SO:0001819	synonymous_variant	0			-	HGNC	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.198G>C	22.37:g.46594478G>C		Somatic	0	51	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S66	ENST00000396000.2	37	c.198	CCDS33669.1	22																																																																																			-	prints_1Cnucl_rcpt_A		0.403	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	protein_coding	OTTHUMT00000318129.3	G	NM_001001928	-		46594478	1	no_errors	ENST00000262735	ensembl	human	known	74_37	silent	SNP	0.032	C	C	46594478	G	C	46594478	2	2	32	1	0	0	0	0	0	0	0	1	12299	1103	39	4		4	PPARA	22	46594478	Silent	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		46594478	4710088	18	2130											
RAB9B	51209	genome.wustl.edu	37	chrX	103080614	103080614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctatggtgtgaaaagcctggGagtcaaatttgttggttacg	13	5	1	1			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:103080614G>T	ENST00000243298.2	-	3	385	c.101C>A	c.(100-102)tCc>tAc	p.S34Y		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	34					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						AAAAGCCTGGGAGTCAAATTT	0.473																																																	0								ENSG00000123570						116	107	110					X																	103080614		2203	4300	6503	RAB9B	SO:0001583	missense	0			-	HGNC	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"RAB, member RAS oncogene"	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.101C>A	X.37:g.103080614G>T	ENSP00000243298:p.Ser34Tyr	Somatic	0	36	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2R8M0|Q52LX2	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S34Y	ENST00000243298.2	37	c.101	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891399	0.72524	.	.	ENSG00000123570	ENST00000243298	T	0.78003	-1.14	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	L	0.35793	1.09	0.80722	D	1	D	0.53745	0.962	P	0.59424	0.857	T	0.83259	-0.0049	10	0.72032	D	0.01	-23.3812	16.5572	0.84488	0.0:0.0:1.0:0.0	.	34	Q9NP90	RAB9B_HUMAN	Y	34	ENSP00000243298:S34Y	ENSP00000243298:S34Y	S	-	2	0	RAB9B	102967270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.518000	0.84900	0.600000	0.82982	TCC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.473	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	protein_coding	OTTHUMT00000057746.1	G		-		103080614	-1	no_errors	ENST00000243298	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103080614	G	T	103080614	3	4	32	1	0	0	0	0	1	0	0	0	12967	1174	41	3	508	3	RAB9B	23	103080614	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09		103080614	52189946	19	2131											
TEX13A	56157	genome.wustl.edu	37	chrX	104464405	104464405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggccaggcctggccacCctgccccctgctcccactca	9	21	1	0			TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:104464405C>T	ENST00000413579.1	-	3	584	c.473G>A	c.(472-474)gGg>gAg	p.G158E	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G158E|TEX13A_ENST00000372578.3_Missense_Mutation_p.G158E|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	158							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCTGGCCACCCTGCCCCCTG	0.652																																																	0								ENSG00000133149						18	21	20					X																	104464405		2009	4027	6036	TEX13A	SO:0001583	missense	0			-	HGNC	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.473G>A	X.37:g.104464405C>T	ENSP00000399753:p.Gly158Glu	Somatic	0	27	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	B1B1G8|Q32NB6	Missense_Mutation	SNP							pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.G158E	ENST00000413579.1	37	c.473		X	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.899462	0.00517	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.89	-5.78	0.02362	.	2.680480	0.01965	N	0.043616	T	0.09158	0.0226	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.23619	-1.0183	8	0.02654	T	1	.	1.0845	0.01650	0.1727:0.2947:0.3272:0.2054	.	158;158	C9JWK0;Q9BXU3	.;TX13A_HUMAN	E	158	.	ENSP00000361656:G158E	G	-	2	0	TEX13A	104351061	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.679000	0.05203	-1.507000	0.01803	-0.558000	0.04189	GGG	-	NULL		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	protein_coding		C	NM_031274	-		104464405	-1	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	SNP	0.000	T	T	104464405	C	T	104464405	3	4	32	1	0	0	0	0	1	0	0	0	15783	623	22	2	762	2	TEX13A	23	104464405	Missense_Mutation	SNP	C	TCGA-DX-A23V-01A-11D-A29N-09	1383791	104464405	50806155	20	2132											
OPN1MW	728458	genome.wustl.edu	37	chrX	153492789	153492789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccttctcctggatctggGctgctgtgtggacagccccg	13	13	2	0	rs139163406		TCGA-DX-A23V-01A-11D-A29N-09	TCGA-DX-A23V-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68873db8-897d-45d3-a524-3d64be5cdce2	c71940dd-4a6d-4498-bc17-02901daf8fde	g.chrX:153492789G>T	ENST00000369929.4	+	3	598	c.538G>T	c.(538-540)Gct>Tct	p.A180S	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	180					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGATCTGGGCTGCTGTGTG	0.567																																																	0								ENSG00000166160						1	1	1					X																	153492789		575	867	1442	OPN1MW2	SO:0001583	missense	0			-	HGNC		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"GPCR / Class A : Opsin receptors"	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.538G>T	X.37:g.153492789G>T	ENSP00000358945:p.Ala180Ser	Somatic	0	11	0		0.57212327107133				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	3	62.50		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A180S	ENST00000369929.4	37	c.538	CCDS35447.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.004|0.004	-2.252386|-2.252386	0.00268|0.00268	.|.	.|.	ENSG00000166160|ENSG00000166160	ENST00000369929|ENST00000430419	T|.	0.34667|.	1.35|.	2.65|2.65	0.698|0.698	0.18087|0.18087	.|.	0.388144|.	0.28349|.	N|.	0.015679|.	T|T	0.56891|0.56891	0.2016|0.2016	.|.	.|.	.|.	0.48236|0.48236	D|D	0.999611|0.999611	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47873|0.47873	-0.9083|-0.9083	7|4	0.22109|.	T|.	0.4|.	.|.	9.0731|9.0731	0.36504|0.36504	0.0:0.0:0.4436:0.5564|0.0:0.0:0.4436:0.5564	.|.	.|.	.|.	.|.	S|V	180|42	ENSP00000358945:A180S|.	ENSP00000358945:A180S|.	A|G	+|+	1|2	0|0	OPN1MW2|OPN1MW2	153145983|153145983	0.000000|0.000000	0.05858|0.05858	0.956000|0.956000	0.39512|0.39512	0.016000|0.016000	0.09150|0.09150	-3.673000|-3.673000	0.00397|0.00397	-0.164000|-0.164000	0.10927|0.10927	-1.182000|-1.182000	0.01712|0.01712	GCT|GGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW2	protein_coding	OTTHUMT00000061149.2	G	NM_001048181	rs139163406		153492789	1	no_errors	ENST00000369929	ensembl	human	known	74_37	missense	SNP	0.989	T	T	153492789	G	T	153492789	3	4	32	1	0	0	0	0	1	0	0	0	10880	1203	42	3	1667	3	OPN1MW	23	153492789	Missense_Mutation	SNP	G	TCGA-DX-A23V-01A-11D-A29N-09	49028384	153492789	1777771	21	2133											
RERE	473	genome.wustl.edu	37	chr1	8421513	8421513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgactgtctgaactctctCcctcaccttcagatggcgag	9	14	4	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr1:8421513C>T	ENST00000337907.3	-	19	2688	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	RERE_ENST00000400908.2_Missense_Mutation_p.G685E|RERE_ENST00000476556.1_Missense_Mutation_p.G131E|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.G417E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	685					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)		TGAACTCTCTCCCTCACCTTC	0.602																																																	0								ENSG00000142599						112	101	105					1																	8421513		2195	4294	6489	RERE	SO:0001583	missense	0			-	HGNC	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.2054G>A	1.37:g.8421513C>T	ENSP00000338629:p.Gly685Glu	Somatic	0	28	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP							pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.G685E	ENST00000337907.3	37	c.2054	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275205	0.80580	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.6	5.6	0.85130	.	.	.	.	.	T	0.21509	0.0518	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.08027	-1.0742	9	0.07990	T	0.79	-22.1638	18.5905	0.91210	0.0:1.0:0.0:0.0	.	417;685	B1AKN3;Q9P2R6	.;RERE_HUMAN	E	685;417;131;685	ENSP00000338629:G685E;ENSP00000366684:G417E;ENSP00000422246:G131E;ENSP00000383700:G685E	ENSP00000338629:G685E	G	-	2	0	RERE	8344100	1.000000	0.71417	0.980000	0.43619	0.691000	0.40173	5.842000	0.69417	2.653000	0.90120	0.561000	0.74099	GGA	-	pfam_Atrophin-like		0.602	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	protein_coding	OTTHUMT00000004916.1	C		-		8421513	-1	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8421513	C	T	8421513	3	4	33	1	0	0	0	0	1	0	0	0	13239	855	30	2	2670	2	RERE	1	8421513	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		8421513	240829108	1	2134											
OR2M4	26245	genome.wustl.edu	37	chr1	248402501	248402501	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctacttgtctgggaagaaaTctatctctctggcaggttgt	11	8	4	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr1:248402501T>A	ENST00000306687.1	+	1	271	c.271T>A	c.(271-273)Tct>Act	p.S91T		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	91					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)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TGGGAAGAAATCTATCTCTCT	0.473																																																	0								ENSG00000171180						161	141	148					1																	248402501		2203	4300	6503	OR2M4	SO:0001583	missense	0			-	HGNC	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.271T>A	1.37:g.248402501T>A	ENSP00000306688:p.Ser91Thr	Somatic	0	76	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	56	44.55	Q15611|Q8NG82	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S91T	ENST00000306687.1	37	c.271	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	t	2.522	-0.310571	0.05458	.	.	ENSG00000171180	ENST00000306687	T	0.00569	6.52	3.49	-2.85	0.05734	GPCR, rhodopsin-like superfamily (1);	0.935394	0.08790	N	0.893410	T	0.00271	0.0008	N	0.16016	0.355	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39418	-0.9615	10	0.15499	T	0.54	.	0.4756	0.00539	0.2388:0.1988:0.1348:0.4276	.	91	Q96R27	OR2M4_HUMAN	T	91	ENSP00000306688:S91T	ENSP00000306688:S91T	S	+	1	0	OR2M4	246469124	0.000000	0.05858	0.001000	0.08648	0.259000	0.26198	-0.146000	0.10250	-0.247000	0.09597	0.443000	0.29094	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	protein_coding	OTTHUMT00000097352.1	T	NM_017504	-		248402501	1	no_errors	ENST00000306687	ensembl	human	known	74_37	missense	SNP	0.004	A	A	248402501	T	A	248402501	3	1	33	1	0	0	0	0	1	0	0	0	11014	1435	50	5	273	5	OR2M4	1	248402501	Missense_Mutation	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09	239980988	248402501	848120	2	2135											
OR2T12	127064	genome.wustl.edu	37	chr1	248457939	248457939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttgacctgtgggcctcAttttgctggtgttttaggtt	11	8	2	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr1:248457939A>C	ENST00000317996.1	-	1	941	c.942T>G	c.(940-942)aaT>aaG	p.N314K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TGTGGGCCTCATTTTGCTGGT	0.418																																																	0								ENSG00000177201						165	164	165					1																	248457939		2203	4300	6503	OR2T12	SO:0001583	missense	0			-	HGNC	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.942T>G	1.37:g.248457939A>C	ENSP00000324583:p.Asn314Lys	Somatic	0	75	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	60	38.78		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N314K	ENST00000317996.1	37	c.942	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	-	1.921	-0.448349	0.04572	.	.	ENSG00000177201	ENST00000317996	T	0.00594	6.33	1.25	-2.49	0.06403	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41502	-0.9505	9	0.05721	T	0.95	.	3.8553	0.08973	0.6256:0.2093:0.165:0.0	.	314	Q8NG77	O2T12_HUMAN	K	314	ENSP00000324583:N314K	ENSP00000324583:N314K	N	-	3	2	OR2T12	246524562	0.006000	0.16342	0.003000	0.11579	0.098000	0.18820	1.804000	0.38873	-0.313000	0.08728	-1.522000	0.00932	AAT	-	NULL		0.418	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	protein_coding	OTTHUMT00000097353.1	A	NM_001004692	-		248457939	-1	no_errors	ENST00000317996	ensembl	human	known	74_37	missense	SNP	0.000	C	C	248457939	A	C	248457939	3	2	33	1	0	0	0	0	1	0	0	0	11021	214	8	5	23	5	OR2T12	1	248457939	Missense_Mutation	SNP	A	TCGA-DX-A23Y-01A-11D-A27P-09	55438	248457939	792682	3	2136											
RGPD4	285190	genome.wustl.edu	37	chr2	108479404	108479404	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatttttattttttttttaGtattctcccaaaacaccacc	2	9	1	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr2:108479404G>T	ENST00000408999.3	+	17	2462		c.e17-1		RGPD4_ENST00000354986.4_Splice_Site	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTTTTTTTTAGTATTCTCCCA	0.313																																																	0								ENSG00000196862						79	58	65					2																	108479404		692	1590	2282	RGPD4	SO:0001630	splice_region_variant	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2386-1G>T	2.37:g.108479404G>T		Somatic	0	137	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	168	15.58	B9A029	Splice_Site	SNP							-	e17-1	ENST00000408999.3	37	c.2386-1	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	4.820	0.152379	0.09185	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.3	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5619	0.50782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGPD4	107845836	1.000000	0.71417	0.965000	0.40720	0.545000	0.35147	8.300000	0.89948	1.299000	0.44798	0.152000	0.16155	.	-	-		0.313	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581	-	Intron	108479404	1	no_errors	ENST00000354986	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	108479404	G	T	108479404	5	4	33	1	0	0	0	0	0	0	1	0	13296	1043	36	3	2451	3	RGPD4	2	108479404	Splice_Site	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09		108479404	134719969	4	2137											
HSPD1	3329	genome.wustl.edu	37	chr2	198358123	198358123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcttacggtgagcaTtggcaatttcaagagcaggt	12	8	1	2	rs149003485		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr2:198358123T>C	ENST00000388968.3	-	7	1061	c.794A>G	c.(793-795)aAt>aGt	p.N265S	HSPD1_ENST00000345042.2_Missense_Mutation_p.N265S	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	265					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ACGGTGAGCATTGGCAATTTC	0.393																																																	0								ENSG00000144381	T	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	106	106	106		794,794	5.3	1	2	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HSPD1	NM_002156.4,NM_199440.1	46,46	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	265/574,265/574	198358123	2,13004	2203	4300	6503	HSPD1	SO:0001583	missense	0			-	HGNC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.794A>G	2.37:g.198358123T>C	ENSP00000373620:p.Asn265Ser	Somatic	0	30	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP							pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.N265S	ENST00000388968.3	37	c.794	CCDS33357.1	2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106296	0.77096	2.27E-4	1.16E-4	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.77620	-1.11;-1.11	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	L	0.41906	1.305	0.80722	D	1	P;P;P	0.45715	0.675;0.675;0.865	P;P;B	0.51516	0.672;0.555;0.279	T	0.76005	-0.3117	10	0.30078	T	0.28	-24.1621	15.5821	0.76452	0.0:0.0:0.0:1.0	.	256;265;265	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	S	265;265;121	ENSP00000373620:N265S;ENSP00000340019:N265S	ENSP00000340019:N265S	N	-	2	0	HSPD1	198066368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.139000	0.66308	0.477000	0.44152	AAT	-	pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60		0.393	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	protein_coding	OTTHUMT00000335324.2	T	NM_002156	rs149003485		198358123	-1	no_errors	ENST00000345042	ensembl	human	known	74_37	missense	SNP	1.000	C	C	198358123	T	C	198358123	3	2	33	1	0	0	0	0	1	0	0	0	7430	1493	52	5	951	5	HSPD1	2	198358123	Missense_Mutation	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09	89878719	198358123	44841250	5	2138											
MAGI1	9223	genome.wustl.edu	37	chr3	65479204	65479204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttcataggtgccgactTccagaagagtcccactctgc	8	15	2	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr3:65479204T>C	ENST00000497477.2	-	3	532	c.533A>G	c.(532-534)gAa>gGa	p.E178G	MAGI1_ENST00000330909.8_Missense_Mutation_p.E178G|MAGI1_ENST00000483466.1_Missense_Mutation_p.E178G|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.E178G			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	178	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)			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)		GGTGCCGACTTCCAGAAGAGT	0.498																																																	0								ENSG00000151276						86	80	82					3																	65479204		2203	4300	6503	MAGI1	SO:0001583	missense	0			-	HGNC	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.533A>G	3.37:g.65479204T>C	ENSP00000424369:p.Glu178Gly	Somatic	0	51	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	63	23.17	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.E178G	ENST00000497477.2	37	c.533		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.3|28.3	4.904646|4.904646	0.92035|0.92035	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477|ENST00000460329	T;T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61;-0.61|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88880|0.88880	0.6557|0.6557	H|H	0.97806|0.97806	4.08|4.08	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.997;1.0;0.973;0.999;0.999;1.0|.	D|D	0.92912|0.92912	0.6348|0.6348	10|5	0.51188|.	T|.	0.08|.	-24.998|-24.998	16.307|16.307	0.82852|0.82852	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	178;178;178;178;178;178|.	Q96QZ7-6;Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;MAGI1_HUMAN;.;.;.;.|.	G|E	178;178;74;53;178;178|59	ENSP00000385450:E178G;ENSP00000331157:E178G;ENSP00000418177:E53G;ENSP00000420323:E178G;ENSP00000424369:E178G|.	ENSP00000331157:E178G|.	E|K	-|-	2|1	0|0	MAGI1|MAGI1	65454244|65454244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	8.040000|8.040000	0.89188|0.89188	2.249000|2.249000	0.74217|0.74217	0.528000|0.528000	0.53228|0.53228	GAA|AAG	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like		0.498	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	protein_coding	OTTHUMT00000349132.2	T	NM_004742	-		65479204	-1	no_errors	ENST00000402939	ensembl	human	known	74_37	missense	SNP	1.000	C	C	65479204	T	C	65479204	3	2	33	1	0	0	0	0	1	0	0	0	9192	1783	62	5	4173	5	MAGI1	3	65479204	Missense_Mutation	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09		65479204	132543226	6	2139											
GALNTL6	442117	genome.wustl.edu	37	chr4	173734827	173734827	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaatgtactacaaaagaatCcccatccctccagagctcca	5	14	0	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr4:173734827C>A	ENST00000506823.1	+	7	1533	c.876C>A	c.(874-876)atC>atA	p.I292I	GALNTL6_ENST00000508122.1_Silent_p.I275I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	292					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)	p.I292I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAAAAGAATCCCCATCCCTC	0.562																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000174473						83	80	81					4																	173734827		2203	4300	6503	GALNTL6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.876C>A	4.37:g.173734827C>A		Somatic	0	23	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q2L4S6	Silent	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I292	ENST00000506823.1	37	c.876	CCDS34104.1	4																																																																																			-	pfam_Glyco_trans_2		0.562	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	C	NM_001034845	-		173734827	1	no_errors	ENST00000506823	ensembl	human	known	74_37	silent	SNP	0.973	A	A	173734827	C	A	173734827	2	1	33	1	0	0	0	0	0	0	0	1	6227	845	30	3		3	GALNTL6	4	173734827	Silent	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		173734827	17419449	7	2140											
FAT1	2195	genome.wustl.edu	37	chr4	187629538	187629538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacggcactcaggctcatgaCagtagtaccaatgggcacgt	11	11	2	1	rs3733413	byFrequency	TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr4:187629538C>A	ENST00000441802.2	-	2	1653	c.1444G>T	c.(1444-1446)Gtc>Ttc	p.V482F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	482	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.			V -> I (in Ref. 1; CAA60685). {ECO:0000305}.	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						AGGCTCATGACAGTAGTACCA	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						153	147	149					4																	187629538		2042	4182	6224	FAT1	SO:0001583	missense	0			-	HGNC	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.1444G>T	4.37:g.187629538C>A	ENSP00000406229:p.Val482Phe	Somatic	0	12	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	3	31.58		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V482F	ENST00000441802.2	37	c.1444	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260970	0.39995	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.62364	0.27;0.03	5.45	2.77	0.32553	Cadherin (4);Cadherin-like (1);	0.114202	0.64402	D	0.000016	T	0.79482	0.4453	M	0.89658	3.05	0.09310	P	0.9999999874831	D	0.59767	0.986	D	0.66351	0.943	D	0.85914	0.1442	9	0.62326	D	0.03	.	11.1193	0.48279	0.0:0.7968:0.0:0.2032	.	482	Q14517	FAT1_HUMAN	F	482	ENSP00000406229:V482F;ENSP00000423736:V482F	ENSP00000260147:V482F	V	-	1	0	FAT1	187866532	0.998000	0.40836	0.329000	0.25429	0.320000	0.28249	3.947000	0.56652	0.872000	0.35775	-0.258000	0.10820	GTC	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245	-		187629538	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	0.970	A	A	187629538	C	A	187629538	3	1	33	1	0	0	0	0	1	0	0	0	5691	478	17	3	12426	3	FAT1	4	187629538	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	13894711	187629538	3524738	8	2141											
HMMR	3161	genome.wustl.edu	37	chr5	162918134	162918134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggcaatacaaactgttaCcgagctcctatggagtgtca	9	10	1	0			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr5:162918134C>T	ENST00000358715.3	+	18	2175	c.2139C>T	c.(2137-2139)taC>taT	p.Y713Y	HMMR_ENST00000393915.4_Silent_p.Y714Y|HMMR_ENST00000432118.2_Silent_p.Y627Y|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Silent_p.Y698Y			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	713					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CAAACTGTTACCGAGCTCCTA	0.318																																																	0								ENSG00000072571						112	125	121					5																	162918134		2203	4298	6501	HMMR	SO:0001819	synonymous_variant	0			-	HGNC	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.2139C>T	5.37:g.162918134C>T		Somatic	0	61	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	111	8.26	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP							NULL	p.Y714	ENST00000358715.3	37	c.2142	CCDS4362.1	5																																																																																			-	NULL		0.318	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	protein_coding	OTTHUMT00000252752.1	C	NM_012484	-		162918134	1	no_errors	ENST00000393915	ensembl	human	known	74_37	silent	SNP	0.032	T	T	162918134	C	T	162918134	2	4	33	1	0	0	0	0	0	0	0	1	7244	518	18	2		2	HMMR	5	162918134	Silent	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		162918134	17997126	9	2142											
PREP	5550	genome.wustl.edu	37	chr6	105821433	105821433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accataggcaaaatattcacCatcttcgctgaacgcataac	5	12	2	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr6:105821433C>T	ENST00000369110.3	-	5	598	c.406G>A	c.(406-408)Ggt>Agt	p.G136S		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	136					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AAATATTCACCATCTTCGCTG	0.463																																																	0								ENSG00000085377						96	85	89					6																	105821433		2203	4300	6503	PREP	SO:0001583	missense	0			-	HGNC		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.406G>A	6.37:g.105821433C>T	ENSP00000358106:p.Gly136Ser	Somatic	0	36	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	30.16	Q8N6D4	Missense_Mutation	SNP							pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A	p.G136S	ENST00000369110.3	37	c.406	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.839316	0.97009	.	.	ENSG00000085377	ENST00000369110	T	0.60920	0.15	6.02	6.02	0.97574	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.87352	0.2338	10	0.87932	D	0	-19.659	20.5373	0.99239	0.0:1.0:0.0:0.0	.	136	P48147	PPCE_HUMAN	S	136	ENSP00000358106:G136S	ENSP00000358106:G136S	G	-	1	0	PREP	105928126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	GGT	-	pfam_Pept_S9A_N		0.463	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	protein_coding	OTTHUMT00000041658.1	C		-		105821433	-1	no_errors	ENST00000369110	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105821433	C	T	105821433	3	4	33	1	0	0	0	0	1	0	0	0	12479	594	21	2	1770	2	PREP	6	105821433	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		105821433	65293634	10	2143											
REV3L	5980	genome.wustl.edu	37	chr6	111688371	111688371	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagcctttccagaagttttCtctgtatgattggtgtacta	9	7	1	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr6:111688371C>G	ENST00000358835.3	-	15	7074	c.6620G>C	c.(6619-6621)aGa>aCa	p.R2207T	REV3L_ENST00000368802.3_Missense_Mutation_p.R2207T|REV3L_ENST00000435970.1_Missense_Mutation_p.R2129T|REV3L_ENST00000368805.1_Missense_Mutation_p.R2207T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2207					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGAAGTTTTCTCTGTATGAT	0.403								DNA polymerases (catalytic subunits)																																									0								ENSG00000009413						98	97	97					6																	111688371		2203	4300	6503	REV3L	SO:0001583	missense	0			-	HGNC	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6620G>C	6.37:g.111688371C>G	ENSP00000351697:p.Arg2207Thr	Somatic	0	54	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	437	85	83.56	O43214|Q5TC33	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R2207T	ENST00000358835.3	37	c.6620	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168248	0.57476	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.01629	4.82;4.82;4.82;4.72	5.46	3.69	0.42338	Ribonuclease H-like (1);	0.074533	0.64402	D	0.000013	T	0.00845	0.0028	L	0.51422	1.61	0.30096	N	0.807859	D	0.53312	0.959	B	0.43225	0.412	T	0.55192	-0.8179	10	0.29301	T	0.29	-6.533	7.8331	0.29355	0.1317:0.7289:0.0:0.1395	.	2207	O60673	DPOLZ_HUMAN	T	2207;2207;2207;2129;280	ENSP00000357792:R2207T;ENSP00000357795:R2207T;ENSP00000351697:R2207T;ENSP00000402003:R2129T	ENSP00000351697:R2207T	R	-	2	0	REV3L	111795064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.260000	0.43267	0.790000	0.33803	0.655000	0.94253	AGA	-	superfamily_RNaseH-like_dom		0.403	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	C	NM_002912	-		111688371	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	SNP	1.000	G	G	111688371	C	G	111688371	3	3	33	1	0	0	0	0	1	0	0	0	13248	913	32	4	2848	4	REV3L	6	111688371	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	5866938	111688371	59426696	11	2144											
REV3L	5980	genome.wustl.edu	37	chr6	111688530	111688530	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaagttctcaaaagccaatGaaggcagctcctctactggt	9	10	2	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr6:111688530G>T	ENST00000358835.3	-	15	6915	c.6461C>A	c.(6460-6462)tCa>tAa	p.S2154*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.S2154*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.S2076*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.S2154*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2154					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAAGCCAATGAAGGCAGCTC	0.423								DNA polymerases (catalytic subunits)																																									0								ENSG00000009413						85	85	85					6																	111688530		2203	4300	6503	REV3L	SO:0001587	stop_gained	0			-	HGNC	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6461C>A	6.37:g.111688530G>T	ENSP00000351697:p.Ser2154*	Somatic	0	52	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	83	12.63	O43214|Q5TC33	Nonsense_Mutation	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S2154*	ENST00000358835.3	37	c.6461	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475756	0.44044	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.73	5.73	0.89815	.	0.742304	0.13085	N	0.415004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9226	8.2469	0.31693	0.078:0.0:0.7258:0.1962	.	.	.	.	X	2154;2154;2154;2076;227	.	ENSP00000351697:S2154X	S	-	2	0	REV3L	111795223	0.986000	0.35501	0.134000	0.22075	0.278000	0.26855	2.529000	0.45632	2.854000	0.98071	0.655000	0.94253	TCA	-	superfamily_RNaseH-like_dom		0.423	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	G	NM_002912	-		111688530	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	nonsense	SNP	0.085	T	T	111688530	G	T	111688530	4	4	33	1	0	0	0	0	0	1	0	0	13248	1294	45	3	3007	3	REV3L	6	111688530	Nonsense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	159	111688530	59426537	12	2145											
PARK2	5071	genome.wustl.edu	37	chr6	162864388	162864388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccctgcgaaaatcacaCgcaactggtcagccggaacc	8	16	2	0	rs368134308	byFrequency	TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr6:162864388C>T	ENST00000366898.1	-	2	227	c.125G>A	c.(124-126)cGt>cAt	p.R42H	PARK2_ENST00000366896.1_Missense_Mutation_p.R42H|PARK2_ENST00000366897.1_Missense_Mutation_p.R42H|PARK2_ENST00000338468.3_De_novo_Start_InFrame|PARK2_ENST00000366892.1_Missense_Mutation_p.R42H|PARK2_ENST00000366894.1_De_novo_Start_OutOfFrame	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	42	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.		R -> P (in PARK2; induces a conformational change in the PSMD4- binding site of Ubl resulting in impaired proteasomal binding). {ECO:0000269|PubMed:11971093, ECO:0000269|PubMed:15584030}.		adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GAAAATCACACGCAACTGGTC	0.582													C|||	3	0.000599042	0	0	5008	,	,		17803	0		0	False		,,,				2504	0.0031																0			GRCh37	CM002386|CM066955	PARK2	M		ENSG00000185345	C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	149	127	134		125,125,125	4.7	1	6		134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PARK2	NM_004562.2,NM_013987.2,NM_013988.2	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	42/466,42/438,42/317	162864388	2,13004	2203	4300	6503	PARK2	SO:0001583	missense	0			-	HGNC		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.125G>A	6.37:g.162864388C>T	ENSP00000355865:p.Arg42His	Somatic	0	41	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	67	17.28	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP							pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin	p.R42H	ENST00000366898.1	37	c.125	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248028	0.59103	2.27E-4	1.16E-4	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.63	4.74	0.60224	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.87971	2.92	0.39257	D	0.964146	B;P;B;B	0.40660	0.305;0.726;0.228;0.139	B;B;B;B	0.33196	0.07;0.159;0.091;0.117	T	0.77349	-0.2621	10	0.41790	T	0.15	.	15.4714	0.75441	0.0:0.9302:0.0:0.0698	.	42;42;42;42	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	H	42;42;42;42;41	ENSP00000355865:R42H;ENSP00000355863:R42H;ENSP00000355862:R42H;ENSP00000355858:R42H	ENSP00000355858:R42H	R	-	2	0	PARK2	162784378	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.727000	0.25999	2.805000	0.96524	0.655000	0.94253	CGT	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin		0.582	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	protein_coding	OTTHUMT00000042995.1	C		-		162864388	-1	no_errors	ENST00000366898	ensembl	human	known	74_37	missense	SNP	1.000	T	T	162864388	C	T	162864388	3	4	33	1	0	0	0	0	1	0	0	0	11451	536	19	1	1316	1	PARK2	6	162864388	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	51175858	162864388	8250679	13	2146											
AMZ1	155185	genome.wustl.edu	37	chr7	2740235	2740235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgaggcctacaacccGcagaggacgctcttctgcac	11	16	2	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr7:2740235G>A	ENST00000312371.4	+	2	518	c.150G>A	c.(148-150)ccG>ccA	p.P50P	AMZ1_ENST00000407112.1_Silent_p.P50P	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	50							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTACAACCCGCAGAGGACGC	0.662																																																	0								ENSG00000174945						111	119	116					7																	2740235		2203	4300	6503	AMZ1	SO:0001819	synonymous_variant	0			-	HGNC	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.150G>A	7.37:g.2740235G>A		Somatic	0	51	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	B3KRS0|Q8TF51	Silent	SNP							pfam_Pept_M54_archaemetzincn	p.P50	ENST00000312371.4	37	c.150	CCDS34589.1	7																																																																																			-	NULL		0.662	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	protein_coding	OTTHUMT00000325244.1	G	NM_133463	-		2740235	1	no_errors	ENST00000312371	ensembl	human	known	74_37	silent	SNP	0.019	A	A	2740235	G	A	2740235	2	1	33	1	0	0	0	0	0	0	0	1	596	1074	38	1		1	AMZ1	7	2740235	Silent	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09		2740235	156398428	14	2147											
AEBP1	165	genome.wustl.edu	37	chr7	44153422	44153422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgcgccctatgaccccCcaacagcgacgcctgcagca	8	20	0	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr7:44153422C>T	ENST00000223357.3	+	21	3344	c.3039C>T	c.(3037-3039)ccC>ccT	p.P1013P	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.P588P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1013	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CTATGACCCCCCAACAGCGAC	0.662																																																	0								ENSG00000106624						97	101	100					7																	44153422		2203	4300	6503	AEBP1	SO:0001819	synonymous_variant	0			-	HGNC	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3039C>T	7.37:g.44153422C>T		Somatic	0	38	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	46	48.89	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP							pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.P1013	ENST00000223357.3	37	c.3039	CCDS5476.1	7																																																																																			-	NULL		0.662	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	protein_coding	OTTHUMT00000250993.2	C	NM_001129	-		44153422	1	no_errors	ENST00000223357	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44153422	C	T	44153422	2	4	33	1	0	0	0	0	0	0	0	1	349	610	22	2		2	AEBP1	7	44153422	Silent	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	41413187	44153422	114985241	15	2148											
MUC17	140453	genome.wustl.edu	37	chr7	100678114	100678114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacttctactgaagccagTtcatctcctacaactgctga	5	14	3	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr7:100678114T>C	ENST00000306151.4	+	3	3481	c.3417T>C	c.(3415-3417)agT>agC	p.S1139S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1139	59 X approximate tandem repeats.|Ser-rich.				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)					CTGAAGCCAGTTCATCTCCTA	0.547																																																	0								ENSG00000169876						381	337	352					7																	100678114		2203	4298	6501	MUC17	SO:0001819	synonymous_variant	0			-	HGNC	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.3417T>C	7.37:g.100678114T>C		Somatic	0	95	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	87	21.62	O14761|Q685J2|Q8TDH7	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S1139	ENST00000306151.4	37	c.3417	CCDS34711.1	7																																																																																			-	NULL		0.547	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	T	NM_001040105	-		100678114	1	no_errors	ENST00000306151	ensembl	human	known	74_37	silent	SNP	0.002	C	C	100678114	T	C	100678114	2	2	33	1	0	0	0	0	0	0	0	1	9976	1722	60	5		5	MUC17	7	100678114	Silent	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09	56524692	100678114	58460549	16	2149											
BMP1	649	genome.wustl.edu	37	chr8	22064428	22064428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccccaactggcctgaCaagtatcccagcaagaagga	9	14	0	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr8:22064428C>T	ENST00000306385.5	+	17	2965	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	765	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACTGGCCTGACAAGTATCCCA	0.622																																																	0								ENSG00000168487						107	79	88					8																	22064428		2203	4300	6503	BMP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2295C>T	8.37:g.22064428C>T		Somatic	0	50	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP							pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.D765	ENST00000306385.5	37	c.2295	CCDS6026.1	8																																																																																			-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	protein_coding	OTTHUMT00000214995.2	C	NM_006132	-		22064428	1	no_errors	ENST00000306385	ensembl	human	known	74_37	silent	SNP	1.000	T	T	22064428	C	T	22064428	2	4	33	1	0	0	0	0	0	0	0	1	1456	477	17	2		2	BMP1	8	22064428	Silent	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		22064428	124299594	17	2150											
SULF1	23213	genome.wustl.edu	37	chr8	70533412	70533412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaaagagtgcagttgtaGggagtctggttaccgtgcca	14	7	1	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr8:70533412G>A	ENST00000260128.4	+	14	2237	c.1520G>A	c.(1519-1521)aGg>aAg	p.R507K	SULF1_ENST00000419716.3_Missense_Mutation_p.R507K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.R507K|SULF1_ENST00000402687.4_Missense_Mutation_p.R507K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	507					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)			TGCAGTTGTAGGGAGTCTGGT	0.532																																																	0								ENSG00000137573						70	68	69					8																	70533412		2203	4300	6503	SULF1	SO:0001583	missense	0			-	HGNC	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.1520G>A	8.37:g.70533412G>A	ENSP00000260128:p.Arg507Lys	Somatic	0	33	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP							pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R507K	ENST00000260128.4	37	c.1520	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056760	0.08339	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.85	2.84	0.33178	Alkaline-phosphatase-like, core domain (1);	0.289314	0.43110	D	0.000609	D	0.95758	0.8620	N	0.22421	0.69	0.09310	N	1	B	0.22003	0.063	B	0.30105	0.111	T	0.81621	-0.0850	10	0.06236	T	0.91	.	18.4808	0.90811	0.0:0.2558:0.7442:0.0	.	507	Q8IWU6	SULF1_HUMAN	K	507	ENSP00000403040:R507K;ENSP00000260128:R507K;ENSP00000385704:R507K;ENSP00000390315:R507K	ENSP00000260128:R507K	R	+	2	0	SULF1	70695966	0.956000	0.32656	0.002000	0.10522	0.300000	0.27592	1.832000	0.39151	0.787000	0.33731	0.655000	0.94253	AGG	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.532	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	G	NM_015170	-		70533412	1	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	SNP	0.076	A	A	70533412	G	A	70533412	3	1	33	1	0	0	0	0	1	0	0	0	15377	1000	35	2	1558	2	SULF1	8	70533412	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	48468984	70533412	75830610	18	2151			1	18		3	2	58	N	G	9.942411e-05
SULF1	23213	genome.wustl.edu	37	chr8	70533467	70533467	+	Silent	SNP	G	G	A													aagagtcaacggcaattcttGagaaaccaggggactccaag							TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr8:70533467G>A	ENST00000260128.4	+	14	2292	c.1575G>A	c.(1573-1575)ttG>ttA	p.L525L	SULF1_ENST00000419716.3_Silent_p.L525L|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Silent_p.L525L|SULF1_ENST00000402687.4_Silent_p.L525L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	525					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)			GGCAATTCTTGAGAAACCAGG	0.502																																																	0								ENSG00000137573						50	52	52					8																	70533467		2203	4300	6503	SULF1	SO:0001819	synonymous_variant	0			-	HGNC	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.1575G>A	8.37:g.70533467G>A		Somatic	0	29	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	25.00	Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP							pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.L525	ENST00000260128.4	37	c.1575	CCDS6204.1	8																																																																																			-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.502	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	G	NM_015170	-		70533467	1	no_errors	ENST00000260128	ensembl	human	known	74_37	silent	SNP	1.000	A	A	70533467	G	A	70533467	2	1	33	1	0	0	0	0	0	0	0	1	15377	1281	45	2		2	SULF1	8	70533467	Silent	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	55	70533467	75830555	19	2152	30	2	1	18		3	2	58	N	G	9.942411e-05
SULF1	23213	genome.wustl.edu	37	chr8	70533469	70533469	+	Missense_Mutation	SNP	G	G	A													gagtcaacggcaattcttgaGaaaccaggggactccaagta							TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr8:70533469G>A	ENST00000260128.4	+	14	2294	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	SULF1_ENST00000419716.3_Missense_Mutation_p.R526K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.R526K|SULF1_ENST00000402687.4_Missense_Mutation_p.R526K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	526					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)			CAATTCTTGAGAAACCAGGGG	0.502																																																	0								ENSG00000137573						50	52	51					8																	70533469		2203	4300	6503	SULF1	SO:0001583	missense	0			-	HGNC	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.1577G>A	8.37:g.70533469G>A	ENSP00000260128:p.Arg526Lys	Somatic	0	29	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP							pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R526K	ENST00000260128.4	37	c.1577	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	8.901	0.956427	0.18507	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.75	5.75	0.90469	Alkaline-phosphatase-like, core domain (1);	0.155036	0.56097	D	0.000033	D	0.97046	0.9035	L	0.57536	1.79	0.32664	N	0.517703	B	0.17038	0.02	B	0.14023	0.01	D	0.93121	0.6525	10	0.05620	T	0.96	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	526	Q8IWU6	SULF1_HUMAN	K	526	ENSP00000403040:R526K;ENSP00000260128:R526K;ENSP00000385704:R526K;ENSP00000390315:R526K	ENSP00000260128:R526K	R	+	2	0	SULF1	70696023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.241000	0.78201	2.720000	0.93068	0.655000	0.94253	AGA	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.502	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	G	NM_015170	-		70533469	1	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70533469	G	A	70533469	3	1	33	1	0	0	0	0	1	0	0	0	15377	942	33	2	1615	2	SULF1	8	70533469	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	2	70533469	75830553	20	2153	30	2	1	18		3	2	58	N	G	9.942411e-05
GKAP1	80318	genome.wustl.edu	37	chr9	86354626	86354626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtaatcacctacactggtCggattcagagtttcttttcc	7	10	3	1	rs554092166		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr9:86354626C>T	ENST00000376371.2	-	13	1487	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.D312N	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	363					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CTACACTGGTCGGATTCAGAG	0.328													C|||	1	0.000199681	0	0	5008	,	,		13741	0.001		0	False		,,,				2504	0																0								ENSG00000165113						86	84	85					9																	86354626		2203	4300	6503	GKAP1	SO:0001583	missense	0			-	HGNC	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"cGMP-dependent protein kinase anchoring protein 42kDa"	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.1087G>A	9.37:g.86354626C>T	ENSP00000365550:p.Asp363Asn	Somatic	0	50	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	64	11.11	Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP							NULL	p.D363N	ENST00000376371.2	37	c.1087	CCDS35049.1	9	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922819	0.52653	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	6.17	5.28	0.74379	.	0.200471	0.51477	D	0.000089	T	0.44371	0.1290	L	0.31294	0.92	0.39554	D	0.969013	B;B	0.32893	0.108;0.389	B;B	0.25759	0.023;0.063	T	0.50651	-0.8803	9	0.72032	D	0.01	-21.2155	13.3032	0.60336	0.0:0.9272:0.0:0.0728	.	312;363	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	N	363;312	.	ENSP00000365544:D312N	D	-	1	0	GKAP1	85544446	0.999000	0.42202	0.996000	0.52242	0.988000	0.76386	2.844000	0.48246	1.630000	0.50440	0.655000	0.94253	GAC	-	NULL		0.328	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	protein_coding	OTTHUMT00000052839.2	C	NM_025211	-		86354626	-1	no_errors	ENST00000376371	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86354626	C	T	86354626	3	4	33	1	0	0	0	0	1	0	0	0	6425	884	31	1	17	1	GKAP1	9	86354626	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		86354626	54858805	21	2154											
RALGPS1	9649	genome.wustl.edu	37	chr9	129796752	129796752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtaagaaggagaaacacagtCttgcccctaacgttgtggcc	11	10	1	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr9:129796752C>G	ENST00000259351.5	+	5	526	c.259C>G	c.(259-261)Ctt>Gtt	p.L87V	RALGPS1_ENST00000373434.1_Missense_Mutation_p.L87V|RALGPS1_ENST00000373436.1_Missense_Mutation_p.L87V|RALGPS1_ENST00000424082.2_Missense_Mutation_p.L87V|RALGPS1_ENST00000394022.3_Missense_Mutation_p.L87V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	87	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAACACAGTCTTGCCCCTAA	0.488																																																	0								ENSG00000136828						223	154	177					9																	129796752		2203	4300	6503	RALGPS1	SO:0001583	missense	0			-	HGNC	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.259C>G	9.37:g.129796752C>G	ENSP00000259351:p.Leu87Val	Somatic	0	61	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	83	15.31	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.L87V	ENST00000259351.5	37	c.259	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577344	0.28180	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	4.98	4.98	0.66077	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000006	T	0.33731	0.0873	L	0.46819	1.47	0.58432	D	0.99999	B;B;B;P	0.35700	0.018;0.015;0.071;0.516	B;B;B;B	0.40534	0.043;0.009;0.026;0.332	T	0.05241	-1.0897	10	0.28530	T	0.3	.	17.4041	0.87468	0.0:1.0:0.0:0.0	.	87;87;87;87	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	V	87	ENSP00000259351:L87V;ENSP00000415630:L87V;ENSP00000377590:L87V;ENSP00000317149:L87V;ENSP00000362535:L87V;ENSP00000362533:L87V	ENSP00000259351:L87V	L	+	1	0	RALGPS1	128836573	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.186000	0.58337	2.470000	0.83445	0.563000	0.77884	CTT	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.488	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	protein_coding	OTTHUMT00000054133.1	C	NM_014636	-		129796752	1	no_errors	ENST00000259351	ensembl	human	known	74_37	missense	SNP	0.999	G	G	129796752	C	G	129796752	3	3	33	1	0	0	0	0	1	0	0	0	13025	913	32	4	273	4	RALGPS1	9	129796752	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	43442126	129796752	11416679	22	2155											
MUC5B	727897	genome.wustl.edu	37	chr11	1253942	1253942	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgcgctgtcctcctaTgtgcacgcctgtgccgccaa	11	17	0	0	rs908229	byFrequency	TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr11:1253942T>C	ENST00000529681.1	+	17	2065	c.2007T>C	c.(2005-2007)taT>taC	p.Y669Y	MUC5B_ENST00000447027.1_Silent_p.Y672Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	669					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)		TGTCCTCCTATGTGCACGCCT	0.667													c|||	2729	0.544928	0.4803	0.6081	5008	,	,		18613	0.6548		0.498	False		,,,				2504	0.5225																0								ENSG00000117983	C		2580,1720		569,1442,139	26	30	29		2007	-2.7	0.3	11	dbSNP_86	29	5188,3312		1163,2862,225	no	coding-synonymous	MUC5B	NM_002458.2		1732,4304,364	CC,CT,TT		38.9647,40.0,39.3125		669/5763	1253942	7768,5032	2150	4250	6400	MUC5B	SO:0001819	synonymous_variant	0			-	HGNC	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.2007T>C	11.37:g.1253942T>C		Somatic	0	22	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Y672	ENST00000529681.1	37	c.2016	CCDS44515.2	11																																																																																			-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	T	XM_001126093	rs908229		1253942	1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	SNP	0.726	C	C	1253942	T	C	1253942	2	2	33	1	0	0	0	0	0	0	0	1	9981	1471	51	5		5	MUC5B	11	1253942	Silent	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09		1253942	133752574	23	2156											
PRKRIR	5612	genome.wustl.edu	37	chr11	76062929	76062929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccactgagaatggcagAtttccttcagttctttaccc	7	12	2	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr11:76062929A>G	ENST00000260045.3	-	5	1370	c.1265T>C	c.(1264-1266)aTc>aCc	p.I422T	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	422					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGAATGGCAGATTTCCTTCAG	0.373																																																	0								ENSG00000137492						28	30	30					11																	76062929		2189	4275	6464	PRKRIR	SO:0001583	missense	0			-	HGNC	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1265T>C	11.37:g.76062929A>G	ENSP00000260045:p.Ile422Thr	Somatic	0	35	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP							pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.I422T	ENST00000260045.3	37	c.1265	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	A	3.800	-0.041815	0.07452	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23147	1.92;1.92	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.337329	0.37715	N	0.001968	T	0.17619	0.0423	N	0.19112	0.55	0.39328	D	0.965365	B	0.17465	0.022	B	0.11329	0.006	T	0.07328	-1.0778	10	0.21540	T	0.41	.	15.1171	0.72410	1.0:0.0:0.0:0.0	.	422	O43422	P52K_HUMAN	T	247;422	ENSP00000436249:I247T;ENSP00000260045:I422T	ENSP00000260045:I422T	I	-	2	0	PRKRIR	75740577	0.608000	0.26966	1.000000	0.80357	0.993000	0.82548	2.926000	0.48892	2.043000	0.60533	0.524000	0.50904	ATC	-	superfamily_RNaseH-like_dom		0.373	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	protein_coding	OTTHUMT00000383188.1	A	NM_004705	-		76062929	-1	no_errors	ENST00000260045	ensembl	human	known	74_37	missense	SNP	0.993	G	G	76062929	A	G	76062929	3	3	33	1	0	0	0	0	1	0	0	0	12531	333	12	5	1024	5	PRKRIR	11	76062929	Missense_Mutation	SNP	A	TCGA-DX-A23Y-01A-11D-A27P-09	74808987	76062929	58943587	24	2157											
PRB2	653247	genome.wustl.edu	37	chr12	11546647	11546647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggttgcctccttgtgggGgtggtccttgtggctttcct	15	10	0	0			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:11546647G>T	ENST00000389362.4	-	3	400	c.365C>A	c.(364-366)cCc>cAc	p.P122H	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	122	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTTGTGGGGGTGGTCCTTG	0.612																																																	0								ENSG00000121335						315	310	312					12																	11546647		2202	4300	6502	PRB2	SO:0001583	missense	0			-	HGNC	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.365C>A	12.37:g.11546647G>T	ENSP00000374013:p.Pro122His	Somatic	1	179	0.56		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	147	17.42	O00599|P02811|P04281	Missense_Mutation	SNP							NULL	p.P122H	ENST00000389362.4	37	c.365	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	9.207	1.029840	0.19512	.	.	ENSG00000121335	ENST00000389362	T	0.27557	1.66	1.42	0.0232	0.14136	.	50.339300	0.02518	N	0.092287	T	0.45597	0.1350	M	0.77313	2.365	0.22156	N	0.999324	D	0.71674	0.998	P	0.52514	0.701	T	0.34428	-0.9829	10	0.35671	T	0.21	.	6.6308	0.22855	0.0:0.3011:0.6989:0.0	.	122	P02812	PRB2_HUMAN	H	122	ENSP00000374013:P122H	ENSP00000374013:P122H	P	-	2	0	PRB2	11437914	0.886000	0.30341	0.032000	0.17829	0.090000	0.18270	1.340000	0.33896	0.688000	0.31529	0.186000	0.17326	CCC	-	NULL		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	protein_coding	OTTHUMT00000346925.2	G	NM_006248	-		11546647	-1	no_errors	ENST00000389362	ensembl	human	known	74_37	missense	SNP	0.680	T	T	11546647	G	T	11546647	3	4	33	1	0	0	0	0	1	0	0	0	12448	1232	43	3	889	3	PRB2	12	11546647	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09		11546647	122305248	25	2158											
HNRNPA1	3178	genome.wustl.edu	37	chr12	54676401	54676401	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtcgtggaggtggtTtcggtgggaatgacaacttc	18	5	0	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:54676401T>A	ENST00000340913.6	+	6	681	c.628T>A	c.(628-630)Ttc>Atc	p.F210I	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.F210I|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.F210I|RP11-968A15.8_ENST00000553061.1_RNA|CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000547276.1_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	210	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAGGTGGTTTCGGTGGGAA	0.428																																					Colon(83;502 1289 8436 16406 24870)												0								ENSG00000135486						106	103	104					12																	54676401		2203	4297	6500	HNRNPA1	SO:0001583	missense	0			-	HGNC	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.628T>A	12.37:g.54676401T>A	ENSP00000341826:p.Phe210Ile	Somatic	0	48	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F210I	ENST00000340913.6	37	c.628	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792494	0.50102	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000548688;ENST00000550482	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	3.1	3.1	0.35709	.	.	.	.	.	T	0.80088	0.4559	L	0.49513	1.565	0.80722	D	1	B;B;B;B;B;B	0.32893	0.389;0.277;0.277;0.277;0.277;0.389	B;B;B;B;B;B	0.23574	0.021;0.047;0.047;0.047;0.047;0.036	T	0.77107	-0.2710	9	0.31617	T	0.26	.	9.9246	0.41485	0.0:0.0:0.0:1.0	.	188;210;210;210;210;210	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	I	210;210;210;210;210;210;210;229;81	ENSP00000448617:F210I;ENSP00000341826:F210I;ENSP00000333504:F210I;ENSP00000447782:F229I;ENSP00000446486:F81I	ENSP00000333504:F210I	F	+	1	0	HNRNPA1	52962668	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.023000	0.64084	1.670000	0.50864	0.240000	0.17902	TTC	-	NULL		0.428	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	protein_coding	OTTHUMT00000405480.1	T	NM_031157	-		54676401	1	no_errors	ENST00000340913	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54676401	T	A	54676401	3	1	33	1	0	0	0	0	1	0	0	0	7259	1841	64	5	650	5	HNRNPA1	12	54676401	Missense_Mutation	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09	43129754	54676401	79175494	26	2159											
OR9K2	441639	genome.wustl.edu	37	chr12	55523587	55523587	+	Frame_Shift_Del	DEL	T	T	-													accaagagttcatttgtataTtttgccctgtgcctctcaac					rs398102299|rs58036029|rs200050297	byFrequency	TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:55523587delT	ENST00000305377.5	+	1	123	c.35delT	c.(34-36)attfs	p.I12fs		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	12						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CATTTGTATATTTTGCCCTGT	0.363													|||unknown(ALL_OTHER_Ns)	1523	0.304113	0.4085	0.2421	5008	,	,		18883	0.1141		0.334	False		,,,				2504	0.3722																0								ENSG00000170605			1650,2614		298,1054,780	93	101	98			2.5	0.8	12	dbSNP_132	145	2679,5575		443,1793,1891	no	frameshift	OR9K2	NM_001005243.1		741,2847,2671	A1A1,A1R,RR		32.457,38.6961,34.5822			55523587	4329,8189	2195	4296	6491	OR9K2	SO:0001589	frameshift_variant	0				HGNC	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.35delT	12.37:g.55523587delT	ENSP00000307598:p.Ile12fs	Somatic	0	50	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B9EH19|Q6IFD6	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L13fs	ENST00000305377.5	37	c.35	CCDS31814.1	12																																																																																			-	NULL		0.363	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	protein_coding	OTTHUMT00000406105.1	T				55523587	1	no_errors	ENST00000305377	ensembl	human	known	74_37	frame_shift_del	DEL	0.782	-	-	55523587	T	-	55523587	7	5	33	1	0	1	0	1	0	0	0	0	11256	1493	52	0	37	0	OR9K2	12	55523587	Frame_Shift_Del	DEL	T	TCGA-DX-A23Y-01A-11D-A27P-09	847186	55523587	78328308	27	2160											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100451839	100451839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatttaagtgttctaacTgggggggtctcttctttact	11	6	3	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:100451839T>C	ENST00000279907.7	-	14	3428	c.3216A>G	c.(3214-3216)ccA>ccG	p.P1072P	UHRF1BP1L_ENST00000545232.2_Silent_p.P722P	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCT	0.368																																																	0								ENSG00000111647						69	75	73					12																	100451839		2201	4298	6499	UHRF1BP1L	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216A>G	12.37:g.100451839T>C		Somatic	0	27	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	107	55	66.05	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP							NULL	p.P1072	ENST00000279907.7	37	c.3216	CCDS31882.1	12																																																																																			-	NULL		0.368	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	protein_coding	OTTHUMT00000407875.1	T	NM_001006947	-		100451839	-1	no_errors	ENST00000279907	ensembl	human	known	74_37	silent	SNP	0.841	C	C	100451839	T	C	100451839	2	2	33	1	0	0	0	0	0	0	0	1	16976	1567	55	5		5	UHRF1BP1L	12	100451839	Silent	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09	44928252	100451839	33400056	28	2161											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100453644	100453644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctttagcattaagccaTcaactcgaacatcaacatgc	4	12	2	0			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:100453644T>G	ENST00000279907.7	-	13	1939	c.1727A>C	c.(1726-1728)gAt>gCt	p.D576A	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D226A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	576										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CATTAAGCCATCAACTCGAAC	0.303																																																	0								ENSG00000111647						140	128	132					12																	100453644		2203	4300	6503	UHRF1BP1L	SO:0001583	missense	0			-	HGNC		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1727A>C	12.37:g.100453644T>G	ENSP00000279907:p.Asp576Ala	Somatic	0	41	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	122	360	25.31	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP							NULL	p.D576A	ENST00000279907.7	37	c.1727	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414833	0.62511	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.15834	2.47;2.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42344	-0.9457	10	0.87932	D	0	-18.7149	15.5763	0.76392	0.0:0.0:0.0:1.0	.	576	A0JNW5	UH1BL_HUMAN	A	576;226	ENSP00000279907:D576A;ENSP00000444824:D226A	ENSP00000279907:D576A	D	-	2	0	UHRF1BP1L	98977775	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.091000	0.63221	0.477000	0.44152	GAT	-	NULL		0.303	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	protein_coding	OTTHUMT00000407875.1	T	NM_001006947	-		100453644	-1	no_errors	ENST00000279907	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100453644	T	G	100453644	3	3	33	1	0	0	0	0	1	0	0	0	16976	1435	50	5	2703	5	UHRF1BP1L	12	100453644	Missense_Mutation	SNP	T	TCGA-DX-A23Y-01A-11D-A27P-09	1805	100453644	33398251	29	2162											
UTP20	27340	genome.wustl.edu	37	chr12	101715333	101715333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttaaggaagagatagtGcattttagcatttcagaaga	10	4	1	3			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:101715333G>A	ENST00000261637.4	+	25	3141	c.2967G>A	c.(2965-2967)gtG>gtA	p.V989V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	989					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGAGATAGTGCATTTTAGCA	0.368																																																	0								ENSG00000120800						129	124	126					12																	101715333		2203	4300	6503	UTP20	SO:0001819	synonymous_variant	0			-	HGNC	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2967G>A	12.37:g.101715333G>A		Somatic	0	42	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	165	105	61.11	Q9H3H4	Silent	SNP							pfam_DRIM,superfamily_ARM-type_fold	p.V989	ENST00000261637.4	37	c.2967	CCDS9081.1	12																																																																																			-	pfam_DRIM,superfamily_ARM-type_fold		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	protein_coding	OTTHUMT00000408242.1	G	NM_014503	-		101715333	1	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	SNP	0.997	A	A	101715333	G	A	101715333	2	1	33	1	0	0	0	0	0	0	0	1	17106	1306	46	2		2	UTP20	12	101715333	Silent	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	1261689	101715333	32136562	30	2163											
UTP20	27340	genome.wustl.edu	37	chr12	101728256	101728256	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctactcctctgctgaaactGatcagtatctggagcagaaa	8	11	3	3	rs138065795	byFrequency	TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:101728256G>A	ENST00000261637.4	+	29	3789	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1205					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTGAAACTGATCAGTATCT	0.378																																																	0								ENSG00000120800						92	81	85					12																	101728256		2203	4300	6503	UTP20	SO:0001819	synonymous_variant	0			-	HGNC	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3615G>A	12.37:g.101728256G>A		Somatic	0	40	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	112	70	61.54	Q9H3H4	Silent	SNP							pfam_DRIM,superfamily_ARM-type_fold	p.L1205	ENST00000261637.4	37	c.3615	CCDS9081.1	12																																																																																			-	superfamily_ARM-type_fold		0.378	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	protein_coding	OTTHUMT00000408242.1	G	NM_014503	-		101728256	1	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	SNP	0.872	A	A	101728256	G	A	101728256	2	1	33	1	0	0	0	0	0	0	0	1	17106	1277	45	2		2	UTP20	12	101728256	Silent	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	12923	101728256	32123639	31	2164											
HNF1A	6927	genome.wustl.edu	37	chr12	121416794	121416794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggctccgaggacgagacgGacgacgatggggaagacttc	18	9	0	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:121416794G>A	ENST00000257555.6	+	1	449	c.223G>A	c.(223-225)Gac>Aac	p.D75N	HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000538626.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.D75N|HNF1A_ENST00000402929.1_Missense_Mutation_p.D75N|HNF1A_ENST00000400024.2_Missense_Mutation_p.D75N|HNF1A_ENST00000541395.1_Missense_Mutation_p.D75N|HNF1A-AS1_ENST00000537361.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	75	Asp/Glu-rich (acidic; potential involvement with transcription).				glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGACGAGACGGACGACGATGG	0.672									Hepatic Adenoma, Familial Clustering of																																								0								ENSG00000135100						28	31	30					12																	121416794		2201	4298	6499	HNF1A	SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	-	HGNC	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.223G>A	12.37:g.121416794G>A	ENSP00000257555:p.Asp75Asn	Somatic	0	24	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	64	25.58	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP							pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D75N	ENST00000257555.6	37	c.223	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325628	0.60743	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D	0.98437	-4.93;-4.93;-4.93	4.34	3.37	0.38596	Hepatocyte nuclear factor 1, N-terminal (1);	0.201266	0.31859	N	0.006955	D	0.93416	0.7900	N	0.22421	0.69	0.80722	D	1	P;P;P;P	0.43231	0.728;0.611;0.801;0.458	B;B;B;B	0.38156	0.23;0.142;0.266;0.142	D	0.91764	0.5422	10	0.11794	T	0.64	-26.2195	9.5275	0.39173	0.0:0.0:0.5928:0.4072	.	75;75;75;75	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	N	75	ENSP00000257555:D75N;ENSP00000443112:D75N;ENSP00000438804:D75N	ENSP00000257555:D75N	D	+	1	0	HNF1A	119901177	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.200000	0.58433	1.954000	0.56735	0.591000	0.81541	GAC	-	pfam_HNF-1_N		0.672	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	protein_coding	OTTHUMT00000320957.5	G	NM_000545	-		121416794	1	no_errors	ENST00000257555	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121416794	G	A	121416794	3	1	33	1	0	0	0	0	1	0	0	0	7253	1174	41	2	225	2	HNF1A	12	121416794	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	19688538	121416794	12435101	32	2165											
GPR109B	8843	genome.wustl.edu	37	chr12	123200742	123200742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggaaggtatggcagatGctgaagctgatgcacacatt	12	9	0	3			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:123200742G>A	ENST00000528880.2	-	1	697	c.543C>T	c.(541-543)agC>agT	p.S181S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	181					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TATGGCAGATGCTGAAGCTGA	0.532																																																	0								ENSG00000255398						87	87	87					12																	123200742		2203	4300	6503	HCAR3	SO:0001819	synonymous_variant	0			-	HGNC	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.543C>T	12.37:g.123200742G>A		Somatic	0	49	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	13	67.50	A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP							pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S181	ENST00000528880.2	37	c.543	CCDS53842.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	protein_coding	OTTHUMT00000387549.2	G	NM_006018	-		123200742	-1	no_errors	ENST00000528880	ensembl	human	known	74_37	silent	SNP	1.000	A	A	123200742	G	A	123200742	2	1	33	1	0	0	0	0	0	0	0	1	6628	1310	46	2		2	GPR109B	12	123200742	Silent	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	1783948	123200742	10651153	33	2166											
TMEM132D	121256	genome.wustl.edu	37	chr12	129558577	129558577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagacggcggtgaaggtgGtaaattttacccttttcctt	12	7	0	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr12:129558577G>T	ENST00000422113.2	-	9	3469	c.3143C>A	c.(3142-3144)aCc>aAc	p.T1048N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T586N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1048					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTGAAGGTGGTAAATTTTAC	0.502																																																	0								ENSG00000151952						135	138	137					12																	129558577		2203	4300	6503	TMEM132D	SO:0001583	missense	0			-	HGNC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3143C>A	12.37:g.129558577G>T	ENSP00000408581:p.Thr1048Asn	Somatic	0	58	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	32	51.52	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP							NULL	p.T1048N	ENST00000422113.2	37	c.3143	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905965	0.52333	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.16196	2.36;3.19	4.16	3.24	0.37175	.	0.084351	0.49305	D	0.000146	T	0.44117	0.1278	M	0.86502	2.82	0.45567	D	0.998519	D;D	0.71674	0.97;0.998	P;D	0.66084	0.676;0.941	T	0.52275	-0.8597	9	.	.	.	-36.5755	13.8755	0.63651	0.0:0.1544:0.8456:0.0	.	1048;586	Q14C87;Q14C87-2	T132D_HUMAN;.	N	586;1048	ENSP00000374092:T586N;ENSP00000408581:T1048N	.	T	-	2	0	TMEM132D	128124530	1.000000	0.71417	0.004000	0.12327	0.325000	0.28411	6.384000	0.73177	0.819000	0.34492	0.563000	0.77884	ACC	-	NULL		0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	G	NM_133448	-		129558577	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129558577	G	T	129558577	3	4	33	1	0	0	0	0	1	0	0	0	16054	1261	44	3	160	3	TMEM132D	12	129558577	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	6357835	129558577	4293318	34	2167											
RXFP2	122042	genome.wustl.edu	37	chr13	32367198	32367198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaagatattggaagcAaagggtattctcttggaatt	10	4	1	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr13:32367198A>G	ENST00000298386.2	+	16	1830	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	RXFP2_ENST00000380314.1_Missense_Mutation_p.K563E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	587					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TATTGGAAGCAAAGGGTATTC	0.299																																																	0								ENSG00000133105						35	39	38					13																	32367198		2198	4298	6496	RXFP2	SO:0001583	missense	0			-	HGNC	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1759A>G	13.37:g.32367198A>G	ENSP00000298386:p.Lys587Glu	Somatic	0	65	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B1ALE9|Q3KU23	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.K587E	ENST00000298386.2	37	c.1759	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	A	6.413	0.444404	0.12164	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.36340	1.26;1.26	5.73	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.313525	0.38605	N	0.001634	T	0.16257	0.0391	N	0.02876	-0.465	0.28009	N	0.934995	B;B	0.12013	0.005;0.005	B;B	0.17722	0.019;0.019	T	0.14559	-1.0468	10	0.32370	T	0.25	.	11.2208	0.48853	0.5384:0.4616:0.0:0.0	.	563;587	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	563;587	ENSP00000369670:K563E;ENSP00000298386:K587E	ENSP00000298386:K587E	K	+	1	0	RXFP2	31265198	0.904000	0.30761	0.503000	0.27626	0.231000	0.25187	1.163000	0.31798	0.406000	0.25560	0.533000	0.62120	AAA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.299	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	protein_coding	OTTHUMT00000044399.1	A	NM_130806	-		32367198	1	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	SNP	1.000	G	G	32367198	A	G	32367198	3	3	33	1	0	0	0	0	1	0	0	0	13768	131	5	5	1821	5	RXFP2	13	32367198	Missense_Mutation	SNP	A	TCGA-DX-A23Y-01A-11D-A27P-09		32367198	82802680	35	2168											
TBC1D4	9882	genome.wustl.edu	37	chr13	75861109	75861109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcattttggtctctctcGtcaaaagattttccaggttt	6	9	4	1	rs375003443		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr13:75861109G>A	ENST00000377636.3	-	21	4062	c.3716C>T	c.(3715-3717)aCg>aTg	p.T1239M	TBC1D4_ENST00000425511.1_Missense_Mutation_p.T403M|TBC1D4_ENST00000431480.2_Missense_Mutation_p.T1231M|TBC1D4_ENST00000377625.2_Missense_Mutation_p.T1176M	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1239					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)			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)		GGTCTCTCTCGTCAAAAGATT	0.428																																																	0								ENSG00000136111	G	MET/THR	0,3620		0,0,1810	121	113	115		3716	4.7	1	13		115	1,8163		0,1,4081	no	missense	TBC1D4	NM_014832.2	81	0,1,5891	AA,AG,GG		0.0122,0.0,0.0085	benign	1239/1299	75861109	1,11783	1810	4082	5892	TBC1D4	SO:0001583	missense	0			-	HGNC	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.3716C>T	13.37:g.75861109G>A	ENSP00000366863:p.Thr1239Met	Somatic	0	77	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.T1239M	ENST00000377636.3	37	c.3716	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044296	0.55110	0.0	1.22E-4	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.78246	3.89;3.9;3.9;-1.16	5.53	4.67	0.58626	.	0.088614	0.49305	D	0.000160	D	0.82921	0.5142	M	0.63843	1.955	0.41624	D	0.988982	P;P;D;D	0.71674	0.727;0.915;0.996;0.998	B;B;P;P	0.59115	0.216;0.348;0.852;0.794	D	0.84356	0.0535	10	0.62326	D	0.03	-19.0602	11.5415	0.50669	0.0:0.1352:0.7242:0.1406	.	403;1176;1231;1239	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	M	1239;1231;1176;403	ENSP00000366863:T1239M;ENSP00000395986:T1231M;ENSP00000366852:T1176M;ENSP00000390654:T403M	ENSP00000366852:T1176M	T	-	2	0	TBC1D4	74759110	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.316000	0.79007	1.411000	0.46957	0.655000	0.94253	ACG	-	NULL		0.428	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	protein_coding	OTTHUMT00000045283.1	G	NM_014832	-		75861109	-1	no_errors	ENST00000377636	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75861109	G	A	75861109	3	1	33	1	0	0	0	0	1	0	0	0	15629	1145	40	1	184	1	TBC1D4	13	75861109	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	43493911	75861109	39308769	36	2169											
SERPINA11	256394	genome.wustl.edu	37	chr14	94909524	94909524	+	Missense_Mutation	SNP	C	C	T													tgtcttccaggttatatgttCcagaaattgaaaaccttggc							TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr14:94909524C>T	ENST00000334708.3	-	4	1020	c.956G>A	c.(955-957)gGa>gAa	p.G319E	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	319					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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GTTATATGTTCCAGAAATTGA	0.443																																																	0								ENSG00000186910						91	88	89					14																	94909524		2203	4300	6503	SERPINA11	SO:0001583	missense	0			-	HGNC	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.956G>A	14.37:g.94909524C>T	ENSP00000335024:p.Gly319Glu	Somatic	0	68	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	B2RV07	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G319E	ENST00000334708.3	37	c.956	CCDS32149.1	14	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071626	0.20147	.	.	ENSG00000186910	ENST00000334708	D	0.83163	-1.69	6.04	0.512	0.16994	Serpin domain (3);	0.360393	0.22871	N	0.054634	T	0.71863	0.3390	L	0.31926	0.97	0.09310	N	0.999999	P	0.35982	0.531	B	0.39935	0.314	T	0.59616	-0.7421	10	0.21014	T	0.42	.	8.1166	0.30946	0.1103:0.379:0.4474:0.0633	.	319	Q86U17	SPA11_HUMAN	E	319	ENSP00000335024:G319E	ENSP00000335024:G319E	G	-	2	0	SERPINA11	93979277	0.348000	0.24861	0.006000	0.13384	0.114000	0.19823	0.883000	0.28200	0.379000	0.24794	0.563000	0.77884	GGA	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.443	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA11	protein_coding	OTTHUMT00000413091.1	C	NM_001080451	-		94909524	-1	no_errors	ENST00000334708	ensembl	human	known	74_37	missense	SNP	0.034	T	T	94909524	C	T	94909524	3	4	33	1	0	0	0	0	1	0	0	0	14096	855	30	2	320	2	SERPINA11	14	94909524	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		94909524	12440016	37	2170	31	2									
SERPINA11	256394	genome.wustl.edu	37	chr14	94909527	94909527	+	Missense_Mutation	SNP	G	G	A													cttccaggttatatgttccaGaaattgaaaaccttggcaag							TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr14:94909527G>A	ENST00000334708.3	-	4	1017	c.953C>T	c.(952-954)tCt>tTt	p.S318F	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	318					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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		ATATGTTCCAGAAATTGAAAA	0.438																																																	0								ENSG00000186910						86	84	85					14																	94909527		2203	4300	6503	SERPINA11	SO:0001583	missense	0			-	HGNC	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.953C>T	14.37:g.94909527G>A	ENSP00000335024:p.Ser318Phe	Somatic	0	66	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	B2RV07	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S318F	ENST00000334708.3	37	c.953	CCDS32149.1	14	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055481	0.36277	.	.	ENSG00000186910	ENST00000334708	D	0.89196	-2.48	6.04	5.14	0.70334	Serpin domain (3);	0.474610	0.19928	N	0.102934	D	0.95274	0.8467	H	0.94847	3.59	0.27043	N	0.963957	D	0.71674	0.998	D	0.74674	0.984	D	0.90200	0.4256	10	0.87932	D	0	.	8.5153	0.33242	0.0685:0.0:0.6536:0.2779	.	318	Q86U17	SPA11_HUMAN	F	318	ENSP00000335024:S318F	ENSP00000335024:S318F	S	-	2	0	SERPINA11	93979280	1.000000	0.71417	0.030000	0.17652	0.117000	0.20001	3.534000	0.53568	1.531000	0.49152	0.563000	0.77884	TCT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.438	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA11	protein_coding	OTTHUMT00000413091.1	G	NM_001080451	-		94909527	-1	no_errors	ENST00000334708	ensembl	human	known	74_37	missense	SNP	0.710	A	A	94909527	G	A	94909527	3	1	33	1	0	0	0	0	1	0	0	0	14096	942	33	2	323	2	SERPINA11	14	94909527	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	3	94909527	12440013	38	2171	31	2									
AMFR	267	genome.wustl.edu	37	chr16	56438907	56438907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagacatacgtcccctttcCttcccacgtcccttcgtggt	6	16	0	1	rs187472781		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr16:56438907C>T	ENST00000290649.5	-	6	964	c.754G>A	c.(754-756)Gga>Aga	p.G252R		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	252					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GTCCCCTTTCCTTCCCACGTC	0.443													C|||	1	0.000199681	0	0.0014	5008	,	,		20531	0		0	False		,,,				2504	0				Pancreas(2;144 323 39528)												0								ENSG00000159461						190	151	164					16																	56438907		2198	4300	6498	AMFR	SO:0001583	missense	0			GMAF=0.0005	HGNC	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.754G>A	16.37:g.56438907C>T	ENSP00000290649:p.Gly252Arg	Somatic	0	75	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	91	65	58.33	P26442|Q8IZ70	Missense_Mutation	SNP							pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.G252R	ENST00000290649.5	37	c.754	CCDS10758.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.72	2.915807	0.52546	.	.	ENSG00000159461	ENST00000290649	T	0.13657	2.57	6.06	6.06	0.98353	.	0.137727	0.64402	D	0.000003	T	0.12561	0.0305	L	0.35723	1.085	0.51012	D	0.999908	B	0.19935	0.04	B	0.22386	0.039	T	0.13710	-1.0499	10	0.16896	T	0.51	-17.3753	14.7385	0.69434	0.0:0.9315:0.0:0.0685	.	252	Q9UKV5	AMFR2_HUMAN	R	252	ENSP00000290649:G252R	ENSP00000290649:G252R	G	-	1	0	AMFR	54996408	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.599000	0.61076	2.871000	0.98454	0.655000	0.94253	GGA	-	NULL		0.443	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	protein_coding	OTTHUMT00000256978.2	C		rs187472781		56438907	-1	no_errors	ENST00000290649	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56438907	C	T	56438907	3	4	33	1	0	0	0	0	1	0	0	0	571	690	24	2	1213	2	AMFR	16	56438907	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		56438907	33915846	39	2172			2	19		2	2	48	C		8.1982e-05
AMFR	267	genome.wustl.edu	37	chr16	56438954	56438954	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccagaggtgaattacgtatCtgtaatgaagagagaaaaca	10	6	1	5			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr16:56438954C>G	ENST00000290649.5	-	6	918		c.e6-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase						aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						AATTACGTATCTGTAATGAAG	0.398																																					Pancreas(2;144 323 39528)												0								ENSG00000159461						132	114	120					16																	56438954		2198	4300	6498	AMFR	SO:0001630	splice_region_variant	0			-	HGNC	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.708-1G>C	16.37:g.56438954C>G		Somatic	0	81	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	70	55.62	P26442|Q8IZ70	Splice_Site	SNP							-	e6-1	ENST00000290649.5	37	c.708-1	CCDS10758.1	16	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812556	0.50527	.	.	ENSG00000159461	ENST00000290649	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMFR	54996455	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	7.767000	0.85331	2.871000	0.98454	0.655000	0.94253	.	-	-		0.398	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	protein_coding	OTTHUMT00000256978.2	C		-	Intron	56438954	-1	no_errors	ENST00000290649	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	56438954	C	G	56438954	5	3	33	1	0	0	0	0	0	0	1	0	571	927	32	4	1260	4	AMFR	16	56438954	Splice_Site	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	47	56438954	33915799	40	2173			2	19		2	2	48	C		8.1982e-05
GPR56	9289	genome.wustl.edu	37	chr16	57691386	57691386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccttgtcaccattgcCgcctacctctgctccaggtg	9	17	2	0			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr16:57691386C>T	ENST00000388812.4	+	10	1709	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000562631.1_Silent_p.A423A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	423					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCACCATTGCCGCCTACCTCT	0.647																																																	0								ENSG00000205336						155	139	144					16																	57691386		2198	4300	6498	GPR56	SO:0001819	synonymous_variant	0			-	HGNC	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1269C>T	16.37:g.57691386C>T		Somatic	0	79	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	156	13.81	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A423	ENST00000388812.4	37	c.1269	CCDS32460.1	16																																																																																			-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.647	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	protein_coding	OTTHUMT00000433436.3	C		-		57691386	1	no_errors	ENST00000379696	ensembl	human	known	74_37	silent	SNP	0.951	T	T	57691386	C	T	57691386	2	4	33	1	0	0	0	0	0	0	0	1	6702	639	23	1		1	GPR56	16	57691386	Silent	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	1252432	57691386	32663367	41	2174											
SLC25A35	399512	genome.wustl.edu	37	chr17	8194200	8194200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttgtagagccttgtgCaggccacatcaaagggtgcc	14	10	1	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr17:8194200C>T	ENST00000577745.1	-	4	1199	c.689G>A	c.(688-690)tGc>tAc	p.C230Y	SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000580340.1_Missense_Mutation_p.C230Y|SLC25A35_ENST00000380067.2_Missense_Mutation_p.C230Y|SLC25A35_ENST00000579192.1_Missense_Mutation_p.C230Y|SLC25A35_ENST00000396278.1_Missense_Mutation_p.C230Y			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	230					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						GAGCCTTGTGCAGGCCACATC	0.582																																																	0								ENSG00000125434						115	100	105					17																	8194200		2203	4300	6503	SLC25A35	SO:0001583	missense	0			-	HGNC	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.689G>A	17.37:g.8194200C>T	ENSP00000464231:p.Cys230Tyr	Somatic	0	54	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	98	35.10	Q494X5|Q6RGS3|Q8N7Y5	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.C230Y	ENST00000577745.1	37	c.689		17	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890870	0.33348	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	T;T	0.78707	-1.12;-1.2	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.140999	0.64402	D	0.000006	T	0.74801	0.3764	L	0.39898	1.24	0.35952	D	0.833974	B;B	0.22604	0.025;0.072	B;B	0.33960	0.167;0.173	T	0.78326	-0.2247	10	0.66056	D	0.02	-0.9096	15.9113	0.79475	0.0:1.0:0.0:0.0	.	230;230	Q3KQZ1;Q3KQZ1-4	S2535_HUMAN;.	Y	230	ENSP00000369407:C230Y;ENSP00000379574:C230Y	ENSP00000369407:C230Y	C	-	2	0	SLC25A35	8134925	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.201000	0.77847	2.621000	0.88768	0.407000	0.27541	TGC	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.582	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	protein_coding	OTTHUMT00000442146.1	C	NM_201520	-		8194200	-1	no_errors	ENST00000577745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8194200	C	T	8194200	3	4	33	1	0	0	0	0	1	0	0	0	14507	710	25	2	210	2	SLC25A35	17	8194200	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		8194200	73001010	42	2175											
DNAI2	64446	genome.wustl.edu	37	chr17	72308191	72308191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctggaggccaggcaccGggagatgcggctgaaggaga	18	9	0	3			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr17:72308191G>A	ENST00000311014.6	+	12	1611	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.R372Q|DNAI2_ENST00000579490.1_Missense_Mutation_p.R572Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.R515Q|DNAI2_ENST00000582036.1_Missense_Mutation_p.R503Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	515					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCCAGGCACCGGGAGATGCGG	0.652									Kartagener syndrome																																								0								ENSG00000171595						54	49	51					17																	72308191		2203	4300	6503	DNAI2	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1544G>A	17.37:g.72308191G>A	ENSP00000308312:p.Arg515Gln	Somatic	0	24	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R515Q	ENST00000311014.6	37	c.1544	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.261468	0.95368	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.34275	1.37;1.37;1.37	4.62	3.65	0.41850	.	0.111156	0.64402	D	0.000012	T	0.50718	0.1632	M	0.81682	2.555	0.54753	D	0.999983	D	0.61697	0.99	P	0.51657	0.676	T	0.58880	-0.7558	10	0.72032	D	0.01	-10.8387	12.4895	0.55891	0.0815:0.0:0.9185:0.0	.	515	Q9GZS0	DNAI2_HUMAN	Q	515;372;515	ENSP00000308312:R515Q;ENSP00000302929:R372Q;ENSP00000400252:R515Q	ENSP00000302929:R372Q	R	+	2	0	DNAI2	69819786	1.000000	0.71417	0.766000	0.31476	0.980000	0.70556	6.461000	0.73522	0.965000	0.38133	0.485000	0.47835	CGG	-	NULL		0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	protein_coding	OTTHUMT00000442537.1	G	NM_023036	-		72308191	1	no_errors	ENST00000311014	ensembl	human	known	74_37	missense	SNP	0.998	A	A	72308191	G	A	72308191	3	1	33	1	0	0	0	0	1	0	0	0	4612	1116	39	1	1586	1	DNAI2	17	72308191	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	64113991	72308191	8887019	43	2176											
RNF213	57674	genome.wustl.edu	37	chr17	78268762	78268762	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgatttatgaaggacAggcacagctgtggaccgatt	12	8	0	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr17:78268762A>T	ENST00000582970.1	+	9	1858	c.1715A>T	c.(1714-1716)cAg>cTg	p.Q572L	RNF213_ENST00000456466.1_Missense_Mutation_p.Q572L|RNF213_ENST00000319921.4_Missense_Mutation_p.Q572L|RNF213_ENST00000508628.2_Missense_Mutation_p.Q621L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	572					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)			TATGAAGGACAGGCACAGCTG	0.537																																																	0								ENSG00000173821						74	75	74					17																	78268762		2203	4300	6503	RNF213	SO:0001583	missense	0			-	HGNC	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.1715A>T	17.37:g.78268762A>T	ENSP00000464087:p.Gln572Leu	Somatic	0	47	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q572L	ENST00000582970.1	37	c.1715	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	a	9.838	1.190219	0.21954	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	5.17	-4.11	0.03928	.	4.101390	0.00890	N	0.002229	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B;B	0.29805	0.257;0.068	B;B	0.29077	0.098;0.048	T	0.27331	-1.0077	9	0.48119	T	0.1	0.2153	11.5064	0.50468	0.5535:0.0:0.4465:0.0	.	572;572	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	L	572;621;572;572	.	ENSP00000324392:Q572L	Q	+	2	0	RNF213	75883357	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.440000	0.06888	-0.981000	0.03520	-0.477000	0.04895	CAG	-	NULL		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	A	NM_020914	-		78268762	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	0.000	T	T	78268762	A	T	78268762	3	4	33	1	0	0	0	0	1	0	0	0	13485	188	7	5	1896	5	RNF213	17	78268762	Missense_Mutation	SNP	A	TCGA-DX-A23Y-01A-11D-A27P-09	5960571	78268762	2926448	44	2177											
EPB41L3	23136	genome.wustl.edu	37	chr18	5415858	5415858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcattgtctagggaggCgctcaaggaggccgccttgg	17	10	3	0	rs371099425		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr18:5415858C>T	ENST00000341928.2	-	13	2366	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	EPB41L3_ENST00000342933.3_Missense_Mutation_p.A676T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	676	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						TCTAGGGAGGCGCTCAAGGAG	0.577																																																	0								ENSG00000082397	C	THR/ALA	0,4406		0,0,2203	84	81	82		2026	5.5	1	18		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPB41L3	NM_012307.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	676/1088	5415858	1,13005	2203	4300	6503	EPB41L3	SO:0001583	missense	0			-	HGNC	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.2026G>A	18.37:g.5415858C>T	ENSP00000343158:p.Ala676Thr	Somatic	0	34	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP							pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A676T	ENST00000341928.2	37	c.2026	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170163	0.78452	0.0	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.81415	-1.49;-1.49	5.52	5.52	0.82312	.	0.134805	0.47852	D	0.000213	T	0.82070	0.4957	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83216	-0.0071	10	0.38643	T	0.18	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	676	Q9Y2J2	E41L3_HUMAN	T	676	ENSP00000343158:A676T;ENSP00000341138:A676T	ENSP00000343158:A676T	A	-	1	0	EPB41L3	5405858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.950000	0.70265	2.586000	0.87340	0.563000	0.77884	GCC	-	pirsf_Band_41_protein		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	protein_coding	OTTHUMT00000254424.1	C	NM_012307	-		5415858	-1	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5415858	C	T	5415858	3	4	33	1	0	0	0	0	1	0	0	0	5156	768	27	1	1277	1	EPB41L3	18	5415858	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		5415858	72661390	45	2178											
NWD1	284434	genome.wustl.edu	37	chr19	16860451	16860451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcacgatgacagcaagcAgcacacccccctggtactct	9	16	1	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr19:16860451A>G	ENST00000552788.1	+	4	998	c.998A>G	c.(997-999)cAg>cGg	p.Q333R	NWD1_ENST00000524140.2_Missense_Mutation_p.Q333R|NWD1_ENST00000339803.6_Missense_Mutation_p.Q198R|NWD1_ENST00000549814.1_Missense_Mutation_p.Q333R|NWD1_ENST00000379808.3_Missense_Mutation_p.Q333R|NWD1_ENST00000523826.1_Missense_Mutation_p.Q127R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	333							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACAGCAAGCAGCACACCCCC	0.617																																																	0								ENSG00000188039						42	45	44					19																	16860451		2203	4300	6503	NWD1	SO:0001583	missense	0			-	HGNC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.998A>G	19.37:g.16860451A>G	ENSP00000447224:p.Gln333Arg	Somatic	0	34	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	C9J021|Q68CT3	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q333R	ENST00000552788.1	37	c.998		19	.	.	.	.	.	.	.	.	.	.	N	1.233	-0.623550	0.03636	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.36	-0.68	0.11346	.	1.060050	0.07261	N	0.867436	T	0.57460	0.2055	N	0.08118	0	0.09310	N	1	B;B;B	0.23650	0.089;0.08;0.048	B;B;B	0.26416	0.051;0.069;0.031	T	0.46830	-0.9163	10	0.17832	T	0.49	-6.9271	2.6694	0.05063	0.3684:0.3374:0.0:0.2942	.	333;333;198	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	198;333;333;333;127;333;198	ENSP00000428579:Q333R;ENSP00000447548:Q333R;ENSP00000369136:Q333R;ENSP00000428955:Q127R;ENSP00000447224:Q333R;ENSP00000340159:Q198R	ENSP00000340159:Q198R	Q	+	2	0	NWD1	16721451	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.287000	0.18920	0.397000	0.25310	-0.924000	0.02725	CAG	-	superfamily_P-loop_NTPase		0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	protein_coding	OTTHUMT00000403569.1	A	NM_001007525	-		16860451	1	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	SNP	0.000	G	G	16860451	A	G	16860451	3	3	33	1	0	0	0	0	1	0	0	0	10783	188	7	5	599	5	NWD1	19	16860451	Missense_Mutation	SNP	A	TCGA-DX-A23Y-01A-11D-A27P-09		16860451	42268532	46	2179											
NLRP4	147945	genome.wustl.edu	37	chr19	56370443	56370443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actgtctctttgaaatgcagGatcctgcctttgtgaagcag	10	9	1	2			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr19:56370443G>T	ENST00000301295.6	+	3	2106	c.1684G>T	c.(1684-1686)Gat>Tat	p.D562Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.D487Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.D562Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	562					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAATGCAGGATCCTGCCTT	0.468																																																	0								ENSG00000160505						76	75	75					19																	56370443		2203	4300	6503	NLRP4	SO:0001583	missense	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1684G>T	19.37:g.56370443G>T	ENSP00000301295:p.Asp562Tyr	Somatic	0	69	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	76	32.14	Q86W87|Q96AY6	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D562Y	ENST00000301295.6	37	c.1684	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213030	0.39102	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.89270	-2.49;-2.49	4.15	-1.43	0.08884	.	.	.	.	.	D	0.90239	0.6948	L	0.50333	1.59	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.69142	0.94;0.962;0.91	T	0.80937	-0.1159	9	0.87932	D	0	.	7.1414	0.25558	0.4897:0.0:0.5103:0.0	.	562;487;562	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Y	562	ENSP00000301295:D562Y;ENSP00000344787:D562Y	ENSP00000301295:D562Y	D	+	1	0	NLRP4	61062255	0.131000	0.22433	0.001000	0.08648	0.072000	0.16883	1.153000	0.31676	-0.242000	0.09667	0.591000	0.81541	GAT	-	NULL		0.468	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444	-		56370443	1	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	SNP	0.000	T	T	56370443	G	T	56370443	3	4	33	1	0	0	0	0	1	0	0	0	10481	1174	41	3	1690	3	NLRP4	19	56370443	Missense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	39509992	56370443	2758540	47	2180											
TOX2	84969	genome.wustl.edu	37	chr20	42694484	42694484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggacctgcaggccttcCgcagtggggcctcccctgcc	13	18	0	0	rs142650311		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr20:42694484C>T	ENST00000358131.5	+	6	1247	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TOX2_ENST00000423191.2_Missense_Mutation_p.R323C|TOX2_ENST00000341197.4_Missense_Mutation_p.R365C|TOX2_ENST00000372999.1_Missense_Mutation_p.R323C|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	347					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCAGGCCTTCCGCAGTGGGGC	0.692													C|||	1	0.000199681	0	0	5008	,	,		12073	0		0	False		,,,				2504	0.001																0								ENSG00000124191	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	8,4398	12.9+/-30.5	0,8,2195	55	59	58		967,1093,1039,967	4.2	1	20	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	180,180,180,180	0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692	probably-damaging,probably-damaging,probably-damaging,probably-damaging	323/465,365/507,347/489,323/465	42694484	9,12997	2203	4300	6503	TOX2	SO:0001583	missense	0			-	HGNC	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1039C>T	20.37:g.42694484C>T	ENSP00000350849:p.Arg347Cys	Somatic	0	42	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R365C	ENST00000358131.5	37	c.1093	CCDS42875.1	20	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900546	0.72754	0.001816	1.16E-4	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.17213	2.69;2.7;2.7;2.29;2.46	5.11	4.17	0.49024	.	0.426017	0.27518	N	0.019018	T	0.33118	0.0852	L	0.48642	1.525	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.99;0.997;0.993;0.993	T	0.02512	-1.1148	10	0.51188	T	0.08	.	12.1878	0.54250	0.0:0.9163:0.0:0.0837	.	243;365;347;323	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	C	365;323;323;347;243	ENSP00000344724:R365C;ENSP00000390278:R323C;ENSP00000362090:R323C;ENSP00000350849:R347C;ENSP00000396777:R243C	ENSP00000344724:R365C	R	+	1	0	TOX2	42127898	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.547000	0.60712	1.273000	0.44346	0.655000	0.94253	CGC	-	NULL		0.692	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	protein_coding	OTTHUMT00000079329.2	C		rs142650311		42694484	1	no_errors	ENST00000341197	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42694484	C	T	42694484	3	4	33	1	0	0	0	0	1	0	0	0	16385	652	23	1	1249	1	TOX2	20	42694484	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		42694484	20331036	48	2181											
ZBTB46	140685	genome.wustl.edu	37	chr20	62384159	62384159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcactggtgcatggcCgagaagctgcagtacggaca	15	9	0	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr20:62384159C>T	ENST00000245663.4	-	4	1428	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	ZBTB46_ENST00000395104.1_Silent_p.S426S|ZBTB46_ENST00000302995.2_Silent_p.S426S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	426					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGTGCATGGCCGAGAAGCTGC	0.602																																																	0								ENSG00000130584						135	99	111					20																	62384159		2203	4300	6503	ZBTB46	SO:0001819	synonymous_variant	0			-	HGNC	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1278G>A	20.37:g.62384159C>T		Somatic	0	60	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP							pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S426	ENST00000245663.4	37	c.1278	CCDS13538.1	20																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	protein_coding	OTTHUMT00000080232.2	C	NM_025224	-		62384159	-1	no_errors	ENST00000245663	ensembl	human	known	74_37	silent	SNP	0.494	T	T	62384159	C	T	62384159	2	4	33	1	0	0	0	0	0	0	0	1	17554	639	23	1		1	ZBTB46	20	62384159	Silent	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	19689675	62384159	641361	49	2182											
TMPRSS3	64699	genome.wustl.edu	37	chr21	43815481	43815481	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaggccaaaaagcgatcGgaatgagaagggggcttcaa	13	7	2	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr21:43815481G>A	ENST00000291532.3	-	2	1001	c.46C>T	c.(46-48)Cga>Tga	p.R16*	TMPRSS3_ENST00000380399.1_Nonsense_Mutation_p.R100*|TMPRSS3_ENST00000398405.1_Nonsense_Mutation_p.R16*|TMPRSS3_ENST00000433957.2_Nonsense_Mutation_p.R16*|TMPRSS3_ENST00000398397.3_Nonsense_Mutation_p.R16*	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	16					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAAGCGATCGGAATGAGAAG	0.512																																																	0								ENSG00000160183						116	100	106					21																	43815481		2203	4300	6503	TMPRSS3	SO:0001587	stop_gained	0			-	HGNC	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.46C>T	21.37:g.43815481G>A	ENSP00000291532:p.Arg16*	Somatic	0	30	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	D3DSJ6|Q5USC7|Q6ZMC3	Nonsense_Mutation	SNP							pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R100*	ENST00000291532.3	37	c.298	CCDS13686.1	21	.	.	.	.	.	.	.	.	.	.	G	44	10.942258	0.99492	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	.	.	.	5.39	1.77	0.24775	.	0.132141	0.36628	N	0.002499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2435	0.48982	0.0:0.0:0.3538:0.6462	.	.	.	.	X	16;16;16;100;16	.	.	R	-	1	2	TMPRSS3	42688550	0.994000	0.37717	0.979000	0.43373	0.964000	0.63967	0.348000	0.20031	0.613000	0.30089	0.655000	0.94253	CGA	-	NULL		0.512	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	protein_coding	OTTHUMT00000195347.1	G		-		43815481	-1	no_errors	ENST00000380399	ensembl	human	known	74_37	nonsense	SNP	0.970	A	A	43815481	G	A	43815481	4	1	33	1	0	0	0	0	0	1	0	0	16255	1124	39	1	1449	1	TMPRSS3	21	43815481	Nonsense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09		43815481	4314414	50	2183											
SMTN	6525	genome.wustl.edu	37	chr22	31486830	31486830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgccaacgctccctgtCggtgctcagcccccgccaac	8	21	1	0	rs372214262		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr22:31486830C>T	ENST00000347557.2	+	9	1120	c.902C>T	c.(901-903)tCg>tTg	p.S301L	SMTN_ENST00000358743.1_Missense_Mutation_p.S301L|SMTN_ENST00000333137.7_Missense_Mutation_p.S301L|SMTN_ENST00000404574.1_5'Flank	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	301					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CGCTCCCTGTCGGTGCTCAGC	0.627																																																	0								ENSG00000183963						105	108	107					22																	31486830		2203	4300	6503	SMTN	SO:0001583	missense	0			-	HGNC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.902C>T	22.37:g.31486830C>T	ENSP00000328635:p.Ser301Leu	Somatic	0	61	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	58	34.83	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP							pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S301L	ENST00000347557.2	37	c.902	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009397	0.35415	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.69306	0.03;-0.39;-0.39	4.2	3.18	0.36537	.	0.000000	0.33075	N	0.005305	T	0.67135	0.2861	L	0.29908	0.895	0.27124	N	0.962078	D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.997;0.998;0.999	P;D;D;P;D;D	0.72625	0.74;0.978;0.978;0.74;0.945;0.94	T	0.57177	-0.7856	10	0.72032	D	0.01	-6.559	5.791	0.18361	0.0:0.6942:0.1988:0.107	.	357;355;293;301;301;301	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	L	301;301;301;301;293	ENSP00000351593:S301L;ENSP00000328635:S301L;ENSP00000329532:S301L	ENSP00000329393:S301L	S	+	2	0	SMTN	29816830	0.002000	0.14202	0.055000	0.19348	0.193000	0.23685	0.438000	0.21559	1.118000	0.41863	0.555000	0.69702	TCG	-	NULL		0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	protein_coding	OTTHUMT00000321766.1	C	NM_134270	-		31486830	1	no_errors	ENST00000347557	ensembl	human	known	74_37	missense	SNP	0.369	T	T	31486830	C	T	31486830	3	4	33	1	0	0	0	0	1	0	0	0	14822	893	31	1	932	1	SMTN	22	31486830	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09		31486830	19817736	51	2184											
CCDC134	79879	genome.wustl.edu	37	chr22	42205909	42205909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtttgaggtgaagcggCgggagcagctgttggcactg	18	6	0	3	rs369237416		TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr22:42205909C>T	ENST00000255784.5	+	3	234	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	CCDC134_ENST00000402061.3_Missense_Mutation_p.R44W	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	44						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGTGAAGCGGCGGGAGCAGCT	0.527																																																	0								ENSG00000100147	C	TRP/ARG	0,4406		0,0,2203	64	58	60		130	-0.2	0.3	22		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC134	NM_024821.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	44/230	42205909	1,13005	2203	4300	6503	CCDC134	SO:0001583	missense	0			-	HGNC	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.130C>T	22.37:g.42205909C>T	ENSP00000255784:p.Arg44Trp	Somatic	0	37	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69		Missense_Mutation	SNP							NULL	p.R44W	ENST00000255784.5	37	c.130	CCDS33654.1	22	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001659	0.54254	0.0	1.16E-4	ENSG00000100147	ENST00000402061;ENST00000255784;ENST00000429249	.	.	.	4.84	-0.245	0.13027	.	0.057402	0.64402	D	0.000003	T	0.61540	0.2355	L	0.38175	1.15	0.40408	D	0.979722	D;D	0.76494	0.998;0.999	P;P	0.62491	0.903;0.9	T	0.66752	-0.5844	9	0.87932	D	0	-23.4126	14.2999	0.66339	0.7444:0.2556:0.0:0.0	.	44;44	B0QY51;Q9H6E4	.;CC134_HUMAN	W	44	.	ENSP00000255784:R44W	R	+	1	2	CCDC134	40535855	1.000000	0.71417	0.282000	0.24776	0.500000	0.33767	3.152000	0.50677	0.282000	0.22254	-0.181000	0.13052	CGG	-	NULL		0.527	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	protein_coding	OTTHUMT00000321964.1	C	NM_024821	-		42205909	1	no_errors	ENST00000255784	ensembl	human	known	74_37	missense	SNP	0.934	T	T	42205909	C	T	42205909	3	4	33	1	0	0	0	0	1	0	0	0	2770	759	27	1	136	1	CCDC134	22	42205909	Missense_Mutation	SNP	C	TCGA-DX-A23Y-01A-11D-A27P-09	10719079	42205909	9098657	52	2185											
WBP2NL	164684	genome.wustl.edu	37	chr22	42415314	42415314	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttcctcattttctacaGtctcttgaagcggtctccga	7	12	5	1			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chr22:42415314G>T	ENST00000328823.9	+	2	93		c.e2-1		WBP2NL_ENST00000543212.1_5'Flank	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like						egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						ATTTTCTACAGTCTCTTGAAG	0.393																																																	0								ENSG00000183066						121	113	116					22																	42415314		2203	4300	6503	WBP2NL	SO:0001630	splice_region_variant	0			-	HGNC	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.63-1G>T	22.37:g.42415314G>T		Somatic	0	47	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Splice_Site	SNP							-	e2-1	ENST00000328823.9	37	c.63-1	CCDS14029.1	22	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681492	0.29872	.	.	ENSG00000183066	ENST00000328823	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3926	0.83545	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBP2NL	40745260	1.000000	0.71417	0.976000	0.42696	0.250000	0.25880	6.746000	0.74866	2.404000	0.81709	0.655000	0.94253	.	-	-		0.393	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	protein_coding	OTTHUMT00000322037.1	G	NM_152613	-	Intron	42415314	1	no_errors	ENST00000328823	ensembl	human	known	74_37	splice_site	SNP	0.999	T	T	42415314	G	T	42415314	5	4	33	1	0	0	0	0	0	0	1	0	17267	1043	36	3	68	3	WBP2NL	22	42415314	Splice_Site	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	209405	42415314	8889252	53	2186											
ATRX	546	genome.wustl.edu	37	chrX	76937963	76937963	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaagaagtaaaactctGctctttcccagaaagcttat	5	10	2	2	rs3088074	byFrequency	TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chrX:76937963G>A	ENST00000373344.5	-	9	2999	c.2785C>T	c.(2785-2787)Cag>Tag	p.Q929*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q891*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	929			Q -> E (in dbSNP:rs3088074). {ECO:0000269|Ref.4}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTAAAACTCTGCTCTTTCCCA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						131	131	131					X																	76937963		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2785C>T	X.37:g.76937963G>A	ENSP00000362441:p.Gln929*	Somatic	0	22	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q929*	ENST00000373344.5	37	c.2785	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.960934	0.99018	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	4.93	0.64822	.	0.479810	0.21799	N	0.068943	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.338	9.9408	0.41578	0.0:0.5498:0.3778:0.0724	.	.	.	.	X	929;891;856	.	ENSP00000362441:Q929X	Q	-	1	0	ATRX	76824619	0.004000	0.15560	0.426000	0.26672	0.158000	0.22134	0.278000	0.18753	0.607000	0.29982	-0.273000	0.10243	CAG	-	NULL		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76937963	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.205	A	A	76937963	G	A	76937963	4	1	33	1	0	0	0	0	0	1	0	0	1208	1328	46	2	4801	2	ATRX	23	76937963	Nonsense_Mutation	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09		76937963	78332597	54	2187											
CT47B1	643311	genome.wustl.edu	37	chrX	120009417	120009417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtcggggccggagtcGccgccctcctggttaccagc	14	16	0	0			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chrX:120009417G>A	ENST00000371311.3	-	1	362	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	36										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGCCGGAGTCGCCGCCCTCCT	0.736																																																	0								ENSG00000236446						3	4	4					X																	120009417		563	1379	1942	CT47B1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.108C>T	X.37:g.120009417G>A		Somatic	0	34	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	11	81.67	A6NM97	Silent	SNP							NULL	p.G36	ENST00000371311.3	37	c.108	CCDS48161.1	X																																																																																			-	NULL		0.736	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	protein_coding	OTTHUMT00000058121.1	G	NM_001145718	-		120009417	-1	no_errors	ENST00000371311	ensembl	human	known	74_37	silent	SNP	0.000	A	A	120009417	G	A	120009417	2	1	33	1	0	0	0	0	0	0	0	1	3991	1074	38	1		1	CT47B1	23	120009417	Silent	SNP	G	TCGA-DX-A23Y-01A-11D-A27P-09	43071454	120009417	35261143	55	2188											
SPRY3	10251	genome.wustl.edu	37	chrX	155003566	155003566	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagatgattttcaacaAattctgcctattgaacagct	7	8	2	4			TCGA-DX-A23Y-01A-11D-A27P-09	TCGA-DX-A23Y-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4936d96-0bcc-45f5-8c25-88095c8c18cc	21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0	g.chrX:155003566A>T	ENST00000302805.2	+	2	464	c.33A>T	c.(31-33)caA>caT	p.Q11H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	11					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						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)					ATTTTCAACAAATTCTGCCTA	0.488																																																	0								ENSG00000168939						194	192	193					X																	155003566		2203	4296	6499	SPRY3	SO:0001583	missense	0			-	HGNC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.33A>T	X.37:g.155003566A>T	ENSP00000302978:p.Gln11His	Somatic	0	93	0		0.641786715787254				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	112	23.29	A8K0H8	Missense_Mutation	SNP							pfam_Sprouty	p.Q11H	ENST00000302805.2	37	c.33	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	A	0.058	-1.230765	0.01518	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.55234	0.53	3.14	1.88	0.25563	.	0.542911	0.17911	N	0.157838	T	0.40015	0.1100	.	.	.	0.09310	N	1	D;P	0.58268	0.982;0.742	P;B	0.44518	0.452;0.102	T	0.21965	-1.0230	9	0.38643	T	0.18	-0.1133	4.8695	0.13625	0.7109:0.0:0.2891:0.0	.	11;11	Q6ZUP3;O43610	.;SPY3_HUMAN	H	11	ENSP00000302978:Q11H	ENSP00000302978:Q11H	Q	+	3	2	SPRY3	154656760	0.996000	0.38824	0.999000	0.59377	0.966000	0.64601	0.397000	0.20883	0.268000	0.21939	0.231000	0.17811	CAA	-	NULL		0.488	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	protein_coding	OTTHUMT00000058823.2	A	NM_005840	-		155003566	1	no_errors	ENST00000302805	ensembl	human	known	74_37	missense	SNP	0.998	T	T	155003566	A	T	155003566	3	4	33	1	0	0	0	0	1	0	0	0	15114	11	1	5	35	5	SPRY3	23	155003566	Missense_Mutation	SNP	A	TCGA-DX-A23Y-01A-11D-A27P-09	34994149	155003566	266994	56	2189											
PLCH2	9651	genome.wustl.edu	37	chr1	2411240	2411240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccagcgctaccctgaCggcagcttcgaccccaactg	9	17	1	1			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr1:2411240C>T	ENST00000419816.2	+	3	613	c.339C>T	c.(337-339)gaC>gaT	p.D113D	PLCH2_ENST00000449969.1_Silent_p.D86D|PLCH2_ENST00000378486.3_Silent_p.D113D|PLCH2_ENST00000378488.3_Silent_p.D113D|PLCH2_ENST00000288766.5_Silent_p.D68D			O75038	PLCH2_HUMAN	phospholipase C, eta 2	113	Necessary for plasma membrane localization. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)		GCTACCCTGACGGCAGCTTCG	0.677																																																	0								ENSG00000149527						10	12	11					1																	2411240		2114	4203	6317	PLCH2	SO:0001819	synonymous_variant	0			-	HGNC	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.339C>T	1.37:g.2411240C>T		Somatic	0	9	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	24	0	0	31	35.42	17	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D113	ENST00000419816.2	37	c.339		1																																																																																			-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.677	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	protein_coding	OTTHUMT00000467514.1	C	NM_014638	-		2411240	1	no_errors	ENST00000378486	ensembl	human	known	74_37	silent	SNP	0.232	T	T	2411240	C	T	2411240	2	4	34	1	0	0	0	0	0	0	0	1	12040	535	19	1		1	PLCH2	1	2411240	Silent	SNP	C	TCGA-DX-A240-01A-32D-A27P-09		2411240	246839381	1	2190											
CRP	1401	genome.wustl.edu	37	chr1	159683597	159683597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcctcaccctgggcttCccatctacccagaactccac	4	20	3	1			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr1:159683597C>T	ENST00000255030.5	-	2	496	c.393G>A	c.(391-393)ggG>ggA	p.G131G	CRP_ENST00000473196.1_5'Flank|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	131	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CCCTGGGCTTCCCATCTACCC	0.522																																																	0								ENSG00000132693						178	182	180					1																	159683597		2203	4300	6503	CRP	SO:0001819	synonymous_variant	0			-	HGNC	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.393G>A	1.37:g.159683597C>T		Somatic	0	33	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	686	13.60	A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	28	0	0	757	16.63	151	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G131	ENST00000255030.5	37	c.393	CCDS30911.1	1																																																																																			-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.522	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	protein_coding	OTTHUMT00000085553.1	C	NM_000567	-		159683597	-1	no_errors	ENST00000255030	ensembl	human	known	74_37	silent	SNP	0.266	T	T	159683597	C	T	159683597	2	4	34	1	0	0	0	0	0	0	0	1	3897	842	30	2		2	CRP	1	159683597	Silent	SNP	C	TCGA-DX-A240-01A-32D-A27P-09	157272357	159683597	89567024	2	2191											
METTL13	51603	genome.wustl.edu	37	chr1	171765642	171765642	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttttattctcaaccttGtgtgccgagacttggggcta	11	8	1	1			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr1:171765642G>C	ENST00000361735.3	+	8	2112	c.1846G>C	c.(1846-1848)Gtg>Ctg	p.V616L	METTL13_ENST00000362019.3_Missense_Mutation_p.V530L|METTL13_ENST00000458517.1_Missense_Mutation_p.V615L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.V460L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	616							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCTCAACCTTGTGTGCCGAGA	0.468																																																	0								ENSG00000010165						148	139	142					1																	171765642		2203	4300	6503	METTL13	SO:0001583	missense	0			-	HGNC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1846G>C	1.37:g.171765642G>C	ENSP00000354920:p.Val616Leu	Somatic	0	87	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	332	14.21	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	35	0	0	173	9.90	19	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.V616L	ENST00000361735.3	37	c.1846	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.393933	0.96009	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.80332	2.49	0.80722	D	1	D;P;P	0.54207	0.965;0.778;0.663	P;B;B	0.56343	0.796;0.396;0.291	T	0.76077	-0.3091	10	0.06625	T	0.88	-37.4897	19.635	0.95728	0.0:0.0:1.0:0.0	.	615;460;616	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	L	615;530;460;616;316;313	ENSP00000401955:V615L;ENSP00000355393:V530L;ENSP00000356711:V460L;ENSP00000354920:V616L;ENSP00000356710:V316L	ENSP00000341732:V313L	V	+	1	0	METTL13	170032265	1.000000	0.71417	0.963000	0.40424	0.925000	0.55904	8.758000	0.91663	2.733000	0.93635	0.655000	0.94253	GTG	-	NULL		0.468	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	protein_coding	OTTHUMT00000084528.5	G	NM_014955	-		171765642	1	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	SNP	1.000	C	C	171765642	G	C	171765642	3	2	34	1	0	0	0	0	1	0	0	0	9499	1377	48	4	1876	4	METTL13	1	171765642	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09	12082045	171765642	77484979	3	2192											
SLC4A7	9497	genome.wustl.edu	37	chr3	27472860	27472860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctaagtcttcctcaGgcggatgaattactactgtg	9	10	3	1			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr3:27472860G>A	ENST00000295736.5	-	7	1122	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P360L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P347L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P347L|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P343L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P343L|SLC4A7_ENST00000437179.1_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	351					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GTCTTCCTCAGGCGGATGAAT	0.498																																																	0								ENSG00000033867						121	128	126					3																	27472860		2203	4300	6503	SLC4A7	SO:0001583	missense	0			-	HGNC	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1052C>T	3.37:g.27472860G>A	ENSP00000295736:p.Pro351Leu	Somatic	0	60	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	27	0	0	32	20.00	8	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.P360L	ENST00000295736.5	37	c.1079	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719596	0.89205	.	.	ENSG00000033867	ENST00000295736;ENST00000454389;ENST00000440156;ENST00000446700;ENST00000445684;ENST00000425128	T;T;T;T;T;T	0.77750	-1.03;-1.03;-1.12;-1.11;-1.12;0.37	5.98	5.98	0.97165	Bicarbonate transporter, cytoplasmic (1);	0.079522	0.49916	N	0.000126	D	0.84252	0.5431	L	0.40543	1.245	0.58432	D	0.999999	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.933;1.0	D;D;D;P;D	0.91635	0.999;0.999;0.999;0.796;0.999	T	0.79713	-0.1688	10	0.26408	T	0.33	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	347;343;347;360;351	E9PFN4;E9PGC1;B5M453;E9PDL9;Q9Y6M7	.;.;.;.;S4A7_HUMAN	L	351;360;347;343;347;343	ENSP00000295736:P351L;ENSP00000390394:P360L;ENSP00000414797:P347L;ENSP00000406605:P343L;ENSP00000406804:P347L;ENSP00000401949:P343L	ENSP00000295736:P351L	P	-	2	0	SLC4A7	27447864	1.000000	0.71417	0.971000	0.41717	0.958000	0.62258	5.528000	0.67129	2.847000	0.97988	0.591000	0.81541	CCT	-	pfam_Band3_cytoplasmic_dom		0.498	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	protein_coding	OTTHUMT00000341230.2	G	NM_003615	-		27472860	-1	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	SNP	0.999	A	A	27472860	G	A	27472860	3	1	34	1	0	0	0	0	1	0	0	0	14666	1000	35	2	2668	2	SLC4A7	3	27472860	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09		27472860	170549570	4	2193											
STAB1	23166	genome.wustl.edu	37	chr3	52547961	52547961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcagcagctggacttGgtgcctgccttcagcctctt	11	13	2	0			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr3:52547961G>T	ENST00000321725.6	+	32	3487	c.3411G>T	c.(3409-3411)ttG>ttT	p.L1137F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1137	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGGACTTGGTGCCTGCCT	0.642																																																	0								ENSG00000010327						117	118	117					3																	52547961		2203	4300	6503	STAB1	SO:0001583	missense	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3411G>T	3.37:g.52547961G>T	ENSP00000312946:p.Leu1137Phe	Somatic	0	38	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	23	0	0	27	43.75	21	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L1137F	ENST00000321725.6	37	c.3411	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135451	0.37728	.	.	ENSG00000010327	ENST00000321725	D	0.85013	-1.93	4.78	-7.04	0.01578	FAS1 domain (2);	1.472710	0.04393	N	0.362699	T	0.65863	0.2732	N	0.14661	0.345	0.09310	N	1	B	0.30281	0.275	B	0.26864	0.074	T	0.56366	-0.7991	10	0.56958	D	0.05	-1.7564	0.6396	0.00808	0.2612:0.2671:0.1195:0.3522	.	1137	Q9NY15	STAB1_HUMAN	F	1137	ENSP00000312946:L1137F	ENSP00000312946:L1137F	L	+	3	2	STAB1	52523001	0.000000	0.05858	0.002000	0.10522	0.907000	0.53573	-5.243000	0.00138	-1.517000	0.01780	0.462000	0.41574	TTG	-	superfamily_FAS1_domain,pfscan_FAS1_domain		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	G	NM_015136	-		52547961	1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52547961	G	T	52547961	3	4	34	1	0	0	0	0	1	0	0	0	15244	1339	47	3	3537	3	STAB1	3	52547961	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09	25075101	52547961	145474469	5	2194											
VPS41	27072	genome.wustl.edu	37	chr7	38948756	38948756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacctgcaccctttacctGctcctctgcttccgccatgg	6	19	1	0			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr7:38948756G>T	ENST00000310301.4	-	1	73	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	VPS41_ENST00000395969.2_Missense_Mutation_p.Q7K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	7					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCCTTTACCTGCTCCTCTGCT	0.592																																																	0								ENSG00000006715						197	175	183					7																	38948756		2203	4300	6503	VPS41	SO:0001583	missense	0			-	HGNC	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.19C>A	7.37:g.38948756G>T	ENSP00000309457:p.Gln7Lys	Somatic	0	43	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	37	0	0	49	0.00	0	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.Q7K	ENST00000310301.4	37	c.19	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897292	0.17686	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000414632	T;T;T	0.42131	0.98;0.98;1.07	4.2	3.24	0.37175	.	0.357255	0.28393	N	0.015507	T	0.21801	0.0525	L	0.28274	0.84	0.30925	N	0.727601	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22138	-1.0225	10	0.05620	T	0.96	-8.5476	6.7846	0.23665	0.0:0.1919:0.61:0.1981	.	7;7;7	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	K	7	ENSP00000309457:Q7K;ENSP00000379297:Q7K;ENSP00000411919:Q7K	ENSP00000265745:Q7K	Q	-	1	0	VPS41	38915281	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.912000	0.39946	2.330000	0.79161	0.655000	0.94253	CAG	-	pirsf_VPS41		0.592	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	protein_coding	OTTHUMT00000226986.3	G		-		38948756	-1	no_errors	ENST00000310301	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38948756	G	T	38948756	3	4	34	1	0	0	0	0	1	0	0	0	17217	1328	46	3	2661	3	VPS41	7	38948756	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09		38948756	120189907	6	2195											
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138447177	138447177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagctaaattggtttcCgtctgaaagtcaaagcacta	7	9	4	1	rs61747679		TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr7:138447177C>T	ENST00000310018.2	-	7	702	c.420G>A	c.(418-420)acG>acA	p.T140T	ATP6V0A4_ENST00000393054.1_Silent_p.T140T|ATP6V0A4_ENST00000353492.4_Silent_p.T140T|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	140					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AATTGGTTTCCGTCTGAAAGT	0.393																																																	0								ENSG00000105929						97	89	92					7																	138447177		2203	4300	6503	ATP6V0A4	SO:0001819	synonymous_variant	0			-	HGNC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.420G>A	7.37:g.138447177C>T		Somatic	0	37	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34	A4D1R4|A8KA80|Q32M47	Silent	SNP	35	0	0	65	16.46	13	pfam_V-ATPase_116kDa_su	p.T140	ENST00000310018.2	37	c.420	CCDS5849.1	7																																																																																			-	pfam_V-ATPase_116kDa_su		0.393	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	protein_coding	OTTHUMT00000347514.1	C	NM_020632	rs61747679		138447177	-1	no_errors	ENST00000310018	ensembl	human	known	74_37	silent	SNP	0.796	T	T	138447177	C	T	138447177	2	4	34	1	0	0	0	0	0	0	0	1	1170	639	23	1		1	ATP6V0A4	7	138447177	Silent	SNP	C	TCGA-DX-A240-01A-32D-A27P-09	99498421	138447177	20691486	7	2196											
PLCE1	51196	genome.wustl.edu	37	chr10	96005731	96005731	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggagatttgttggattcaGacaatgacatctttgagcaa	10	5	2	4			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr10:96005731G>T	ENST00000371380.3	+	7	2684	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	PLCE1_ENST00000260766.3_Missense_Mutation_p.D817Y|PLCE1_ENST00000371385.3_Missense_Mutation_p.D509Y|PLCE1_ENST00000371375.1_Missense_Mutation_p.D509Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	817					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)				GTTGGATTCAGACAATGACAT	0.413																																																	0								ENSG00000138193						82	80	81					10																	96005731		1918	4137	6055	PLCE1	SO:0001583	missense	0			-	HGNC		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.2449G>T	10.37:g.96005731G>T	ENSP00000360431:p.Asp817Tyr	Somatic	0	60	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	34	0	0	40	0.00	0	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D817Y	ENST00000371380.3	37	c.2449	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961869	0.53400	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	6.04	6.04	0.98038	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.476689	0.22934	N	0.053878	T	0.20981	0.0505	N	0.02011	-0.69	0.45354	D	0.998347	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18840	-1.0324	10	0.72032	D	0.01	.	20.6524	0.99598	0.0:0.0:1.0:0.0	.	817;509;817	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Y	817;817;509;509	ENSP00000260766:D817Y;ENSP00000360431:D817Y;ENSP00000360438:D509Y;ENSP00000360426:D509Y	ENSP00000260766:D817Y	D	+	1	0	PLCE1	95995721	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.188000	0.94921	2.890000	0.99128	0.585000	0.79938	GAC	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25		0.413	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341	-		96005731	1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96005731	G	T	96005731	3	4	34	1	0	0	0	0	1	0	0	0	12036	942	33	3	2761	3	PLCE1	10	96005731	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09		96005731	39529016	8	2197											
SMARCC2	6601	genome.wustl.edu	37	chr12	56565571	56565571	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactgaaggggatgggttGgtaggccagggggcctaggg	21	6	0	2			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr12:56565571G>A	ENST00000267064.4	-	20	2070	c.1984C>T	c.(1984-1986)Caa>Taa	p.Q662*	SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.Q693*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.Q693*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.Q693*|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	662					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)			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)			GGGATGGGTTGGTAGGCCAGG	0.582																																																	0								ENSG00000139613						90	84	86					12																	56565571		2203	4300	6503	SMARCC2	SO:0001587	stop_gained	0			-	HGNC	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.1984C>T	12.37:g.56565571G>A	ENSP00000267064:p.Gln662*	Somatic	0	26	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	133	147	47.50	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	31	0	0	212	49.88	211	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.Q662*	ENST00000267064.4	37	c.1984	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.186625	0.97357	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.4247	16.2091	0.82146	0.0:0.0:1.0:0.0	.	.	.	.	X	693;693;693;662	.	ENSP00000267064:Q662X	Q	-	1	0	SMARCC2	54851838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.433000	0.82419	0.655000	0.94253	CAA	-	superfamily_Chromodomain-like		0.582	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	protein_coding	OTTHUMT00000408370.1	G		-		56565571	-1	no_errors	ENST00000267064	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	56565571	G	A	56565571	4	1	34	1	0	0	0	0	0	1	0	0	14784	1357	47	2	1696	2	SMARCC2	12	56565571	Nonsense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09		56565571	77286324	9	2198											
SMARCC2	6601	genome.wustl.edu	37	chr12	56567544	56567544	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagccaagacatggaagtgaGaggtaggcggaggccccatt	15	9	0	2			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr12:56567544G>C	ENST00000267064.4	-	17	1672	c.1586C>G	c.(1585-1587)tCt>tGt	p.S529C	SMARCC2_ENST00000394023.3_Missense_Mutation_p.S529C|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S529C|SMARCC2_ENST00000347471.4_Missense_Mutation_p.S529C|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	529					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)			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)			ATGGAAGTGAGAGGTAGGCGG	0.587																																																	0								ENSG00000139613						146	145	146					12																	56567544		2203	4300	6503	SMARCC2	SO:0001583	missense	0			-	HGNC	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.1586C>G	12.37:g.56567544G>C	ENSP00000267064:p.Ser529Cys	Somatic	0	39	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	246	264	48.24	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	20	0	0	160	52.94	180	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.S529C	ENST00000267064.4	37	c.1586	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322627	0.60634	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.50813	0.74;0.75;0.73	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.984;0.993;0.984;0.984;0.993	T	0.75348	-0.3349	10	0.72032	D	0.01	-11.6603	17.4276	0.87530	0.0:0.0:1.0:0.0	.	418;529;534;529;529	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	C	529	ENSP00000449396:S529C;ENSP00000302919:S529C;ENSP00000267064:S529C	ENSP00000267064:S529C	S	-	2	0	SMARCC2	54853811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.747000	0.98863	2.579000	0.87056	0.563000	0.77884	TCT	-	superfamily_Chromodomain-like		0.587	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	protein_coding	OTTHUMT00000408370.1	G		-		56567544	-1	no_errors	ENST00000267064	ensembl	human	known	74_37	missense	SNP	1.000	C	C	56567544	G	C	56567544	3	2	34	1	0	0	0	0	1	0	0	0	14784	942	33	4	2203	4	SMARCC2	12	56567544	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09	1973	56567544	77284351	10	2199											
TMEM132B	114795	genome.wustl.edu	37	chr12	126004115	126004115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatgagtgagctggtcGtctccgagatcttcgtcagc	11	12	3	3	rs554504714	byFrequency	TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr12:126004115G>A	ENST00000299308.3	+	4	1230	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	408						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGAGCTGGTCGTCTCCGAGAT	0.532													g|||	2	0.000399361	0.0015	0	5008	,	,		16870	0		0	False		,,,				2504	0																0								ENSG00000139364						102	102	102					12																	126004115		1953	4137	6090	TMEM132B	SO:0001583	missense	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1222G>A	12.37:g.126004115G>A	ENSP00000299308:p.Val408Ile	Somatic	0	79	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	84	19.23	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	26	0	0	37	11.90	5	NULL	p.V408I	ENST00000299308.3	37	c.1222	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	g	16.01	3.001789	0.54254	.	.	ENSG00000139364	ENST00000299308	T	0.18657	2.2	5.12	5.12	0.69794	.	51.562600	0.01789	U	0.032201	T	0.23133	0.0559	L	0.49778	1.585	0.80722	D	1	P	0.35527	0.507	B	0.24155	0.051	T	0.25047	-1.0143	10	0.34782	T	0.22	.	12.2214	0.54435	0.0782:0.0:0.9218:0.0	.	408	Q14DG7	T132B_HUMAN	I	408	ENSP00000299308:V408I	ENSP00000299308:V408I	V	+	1	0	TMEM132B	124570068	1.000000	0.71417	0.627000	0.29227	0.973000	0.67179	4.397000	0.59690	2.437000	0.82529	0.621000	0.83404	GTC	-	NULL		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	G	NM_052907	-		126004115	1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	SNP	0.991	A	A	126004115	G	A	126004115	3	1	34	1	0	0	0	0	1	0	0	0	16053	1145	40	1	1236	1	TMEM132B	12	126004115	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09	69436571	126004115	7847780	11	2200											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68229454	68229454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcctggttactgcagctgGctgcaagatctgatccaaag	11	10	1	2			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr14:68229454G>T	ENST00000347230.4	-	33	6232	c.6094C>A	c.(6094-6096)Cca>Aca	p.P2032T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P2032T|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2032					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACTGCAGCTGGCTGCAAGATC	0.488																																																	0								ENSG00000072121						106	87	93					14																	68229454		2203	4300	6503	ZFYVE26	SO:0001583	missense	0			-	HGNC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6094C>A	14.37:g.68229454G>T	ENSP00000251119:p.Pro2032Thr	Somatic	0	50	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	64	28.09	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	28	0	0	49	24.62	16	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P2032T	ENST00000347230.4	37	c.6094	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684707	0.47991	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27104	1.83;1.69	5.62	5.62	0.85841	.	0.118259	0.56097	D	0.000035	T	0.23611	0.0571	N	0.14661	0.345	0.45930	D	0.998762	P;P	0.46784	0.884;0.473	P;B	0.46253	0.509;0.112	T	0.01982	-1.1235	10	0.34782	T	0.22	-12.633	19.6676	0.95898	0.0:0.0:1.0:0.0	.	2032;2032	G3V2D8;Q68DK2	.;ZFY26_HUMAN	T	2032;2011;2032	ENSP00000251119:P2032T;ENSP00000450603:P2032T	ENSP00000251119:P2032T	P	-	1	0	ZFYVE26	67299207	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.435000	0.80391	2.656000	0.90262	0.563000	0.77884	CCA	-	NULL		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	protein_coding	OTTHUMT00000412736.2	G	NM_015346	-		68229454	-1	no_errors	ENST00000347230	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68229454	G	T	68229454	3	4	34	1	0	0	0	0	1	0	0	0	17675	1203	42	3	1565	3	ZFYVE26	14	68229454	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09		68229454	39120086	12	2201											
HIC1	3090	genome.wustl.edu	37	chr17	1961286	1961286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctctgagcagctgaaCgcgcacgtggaggctcacgt	13	14	2	2			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr17:1961286C>T	ENST00000322941.3	+	2	1359	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	HIC1_ENST00000399849.3_Silent_p.N434N|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	453					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		AGCAGCTGAACGCGCACGTGG	0.687																																																	0								ENSG00000177374						13	14	14					17																	1961286		2195	4292	6487	HIC1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1359C>T	17.37:g.1961286C>T		Somatic	0	55	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	32	46.67	D3DTI4	Silent	SNP	25	0	0	24	44.19	19	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.N453	ENST00000322941.3	37	c.1359	CCDS42229.1	17																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.687	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC1	protein_coding	OTTHUMT00000438878.1	C	NM_006497	-		1961286	1	no_errors	ENST00000322941	ensembl	human	known	74_37	silent	SNP	0.949	T	T	1961286	C	T	1961286	2	4	34	1	0	0	0	0	0	0	0	1	7103	535	19	1		1	HIC1	17	1961286	Silent	SNP	C	TCGA-DX-A240-01A-32D-A27P-09		1961286	79233924	13	2202											
SPNS2	124976	genome.wustl.edu	37	chr17	4436615	4436615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagccacgcgctggtgccGcctgaagacccagcgggccg	16	15	0	2	rs202025950	byFrequency	TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr17:4436615G>A	ENST00000329078.3	+	8	1376	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	389					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CGCTGGTGCCGCCTGAAGACC	0.642													g|||	7	0.00139776	0	0.0086	5008	,	,		16351	0		0.001	False		,,,				2504	0																0								ENSG00000183018						36	37	36					17																	4436615		1567	3582	5149	SPNS2	SO:0001583	missense	0			GMAF=0	HGNC	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1166G>A	17.37:g.4436615G>A	ENSP00000333292:p.Arg389His	Somatic	0	80	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	62	40.38	B9A1T3	Missense_Mutation	SNP	24	0	0	27	51.79	29	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R389H	ENST00000329078.3	37	c.1166	CCDS42237.1	17	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	27.9	4.871903	0.91587	.	.	ENSG00000183018	ENST00000329078	T	0.59502	0.26	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.81341	2.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.81143	-0.1067	10	0.87932	D	0	.	16.3995	0.83635	0.0:0.0:1.0:0.0	.	389	Q8IVW8	SPNS2_HUMAN	H	389	ENSP00000333292:R389H	ENSP00000333292:R389H	R	+	2	0	SPNS2	4383364	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.837000	0.75354	2.198000	0.70561	0.486000	0.48141	CGC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	protein_coding	OTTHUMT00000438802.1	G		rs202025950		4436615	1	no_errors	ENST00000329078	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4436615	G	A	4436615	3	1	34	1	0	0	0	0	1	0	0	0	15082	1087	38	1	1196	1	SPNS2	17	4436615	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09	2475329	4436615	76758595	14	2203											
ATAD5	79915	genome.wustl.edu	37	chr17	29220695	29220695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaagcaaaaccggagaCgaagaaagcaaagccagaga	12	7	0	4	rs375680809		TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr17:29220695C>T	ENST00000321990.4	+	21	5202	c.4824C>T	c.(4822-4824)gaC>gaT	p.D1608D		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1608					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAACCGGAGACGAAGAAAGCA	0.403																																																	0								ENSG00000176208	C		0,4406		0,0,2203	59	67	64		4824	0.1	0.8	17		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATAD5	NM_024857.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1608/1845	29220695	1,13005	2203	4300	6503	ATAD5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4824C>T	17.37:g.29220695C>T		Somatic	0	17	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	27	0	0	29	42.00	21	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D1608	ENST00000321990.4	37	c.4824	CCDS11260.1	17																																																																																			-	NULL		0.403	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	protein_coding	OTTHUMT00000256206.2	C	NM_024857	-		29220695	1	no_errors	ENST00000321990	ensembl	human	known	74_37	silent	SNP	0.798	T	T	29220695	C	T	29220695	2	4	34	1	0	0	0	0	0	0	0	1	1076	535	19	1		1	ATAD5	17	29220695	Silent	SNP	C	TCGA-DX-A240-01A-32D-A27P-09	24784080	29220695	51974515	15	2204											
MED13	9969	genome.wustl.edu	37	chr17	60042707	60042707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agatgctaaggtggcagatgGagtattagcatttccagtat	12	5	0	2			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chr17:60042707G>C	ENST00000397786.2	-	20	4580	c.4504C>G	c.(4504-4506)Cca>Gca	p.P1502A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1502					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)|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)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGGCAGATGGAGTATTAGCA	0.448																																																	0								ENSG00000108510						157	148	151					17																	60042707		2020	4207	6227	MED13	SO:0001583	missense	0			-	HGNC	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4504C>G	17.37:g.60042707G>C	ENSP00000380888:p.Pro1502Ala	Somatic	0	22	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	B2RU05|O60334	Missense_Mutation	SNP	37	0	0	22	50.00	22	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P1502A	ENST00000397786.2	37	c.4504	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274005	0.80580	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.67865	-0.29	5.86	4.9	0.64082	.	0.426017	0.28301	N	0.015853	T	0.53061	0.1773	L	0.38531	1.155	0.58432	D	0.999996	B	0.30406	0.278	B	0.27887	0.084	T	0.49643	-0.8918	10	0.07813	T	0.8	4.1394	14.9156	0.70795	0.0686:0.0:0.9314:0.0	.	1502	Q9UHV7	MED13_HUMAN	A	1502;1501	ENSP00000380888:P1502A	ENSP00000262436:P1501A	P	-	1	0	MED13	57397489	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.998000	0.57024	1.479000	0.48272	0.655000	0.94253	CCA	-	NULL		0.448	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	protein_coding	OTTHUMT00000445461.1	G	NM_005121	-		60042707	-1	no_errors	ENST00000397786	ensembl	human	known	74_37	missense	SNP	1.000	C	C	60042707	G	C	60042707	3	2	34	1	0	0	0	0	1	0	0	0	9432	1174	41	4	2064	4	MED13	17	60042707	Missense_Mutation	SNP	G	TCGA-DX-A240-01A-32D-A27P-09	30822012	60042707	21152503	16	2205											
DMD	1756	genome.wustl.edu	37	chrX	31462736	31462736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaggcgcaatttctccTcgaagtgcctgtgtgcaata	10	10	2	1			TCGA-DX-A240-01A-32D-A27P-09	TCGA-DX-A240-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db6e6cc-1a06-49b9-834e-b6611cde4c4b	2ced1edd-817a-4e6b-96b5-c192f0a91663	g.chrX:31462736T>C	ENST00000357033.4	-	60	9152	c.8946A>G	c.(8944-8946)cgA>cgG	p.R2982R	DMD_ENST00000474231.1_Silent_p.R522R|DMD_ENST00000343523.2_Silent_p.R522R|DMD_ENST00000378677.2_Silent_p.R2978R|DMD_ENST00000378707.3_Silent_p.R522R|DMD_ENST00000359836.1_Silent_p.R522R|DMD_ENST00000541735.1_Silent_p.R522R	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	2982					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)				CAATTTCTCCTCGAAGTGCCT	0.458																																																	0								ENSG00000198947						129	98	108					X																	31462736		2202	4300	6502	DMD	SO:0001819	synonymous_variant	0			-	HGNC	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.8946A>G	X.37:g.31462736T>C		Somatic	0	31	0		0.600228419294231				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	274	21.26	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	10	0	0	203	25.00	68	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R2982	ENST00000357033.4	37	c.8946	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	10.31	1.316027	0.23908	.	.	ENSG00000198947	ENST00000465285	T	0.51071	0.72	5.64	3.17	0.36434	.	0.000000	0.29021	U	0.013384	T	0.44095	0.1277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20338	-1.0278	6	.	.	.	.	4.6657	0.12664	0.1692:0.1029:0.0:0.7279	.	.	.	.	G	711	ENSP00000420046:R711G	.	R	-	1	2	DMD	31372657	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.041000	0.41213	0.257000	0.21650	0.481000	0.45027	AGG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	T	NM_004006	-		31462736	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	SNP	1.000	C	C	31462736	T	C	31462736	2	2	34	1	0	0	0	0	0	0	0	1	4582	1538	54	5		5	DMD	23	31462736	Silent	SNP	T	TCGA-DX-A240-01A-32D-A27P-09		31462736	123807824	17	2206											
EFHD2	79180	genome.wustl.edu	37	chr1	15753676	15753676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgcaaggcggcggccGgggagcttcaggaggacagc	17	12	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr1:15753676G>A	ENST00000375980.4	+	3	564	c.487G>A	c.(487-489)Ggg>Agg	p.G163R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	163	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGCGGCCGGGGAGCTTCA	0.682																																																	0								ENSG00000142634						19	20	20					1																	15753676		2201	4300	6501	EFHD2	SO:0001583	missense	0			-	HGNC	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"EF-hand domain containing"	28670	protein-coding gene	gene with protein product	"swiprosin-1"		"EF hand domain containing 2"			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.487G>A	1.37:g.15753676G>A	ENSP00000365147:p.Gly163Arg	Somatic	0	34	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	14	53.33	Q5JYW9	Missense_Mutation	SNP	24	0	0	16	44.83	13	smart_EF_hand_dom,pfscan_EF_hand_dom	p.G163R	ENST00000375980.4	37	c.487	CCDS155.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.992737|3.992737	0.74703|0.74703	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000375980;ENST00000375975|ENST00000445566	T|.	0.44881|.	0.91|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.79305|0.79305	0.4423|0.4423	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.83306|0.83306	-0.0025|-0.0025	10|5	0.45353|.	T|.	0.12|.	-39.742|-39.742	15.7247|15.7247	0.77747|0.77747	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	163|.	Q96C19|.	EFHD2_HUMAN|.	R|Q	163;64|65	ENSP00000365147:G163R|.	ENSP00000365142:G64R|.	G|R	+|+	1|2	0|0	EFHD2|EFHD2	15626263|15626263	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.411000|0.411000	0.31082|0.31082	9.735000|9.735000	0.98825|0.98825	2.209000|2.209000	0.71365|0.71365	0.561000|0.561000	0.74099|0.74099	GGG|CGG	-	pfscan_EF_hand_dom		0.682	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHD2	protein_coding	OTTHUMT00000006433.1	G	NM_024329	-		15753676	1	no_errors	ENST00000375980	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15753676	G	A	15753676	3	1	35	1	0	0	0	0	1	0	0	0	4951	1116	39	1	497	1	EFHD2	1	15753676	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		15753676	233496945	1	2207											
EPHB2	2048	genome.wustl.edu	37	chr1	23111370	23111370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcatcatccagaatggCgccatcttccaggaaaccct	7	17	2	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr1:23111370C>T	ENST00000400191.3	+	3	630	c.612C>T	c.(610-612)ggC>ggT	p.G204G	EPHB2_ENST00000374632.3_Silent_p.G204G|EPHB2_ENST00000544305.1_Silent_p.G204G|EPHB2_ENST00000374627.1_Silent_p.G198G|EPHB2_ENST00000374630.3_Silent_p.G204G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	204	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCAGAATGGCGCCATCTTCC	0.627																																																	0								ENSG00000133216						43	40	41					1																	23111370		2203	4300	6503	EPHB2	SO:0001819	synonymous_variant	0			-	HGNC	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.612C>T	1.37:g.23111370C>T		Somatic	0	64	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	62	10.14	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	22	0	0	32	3.03	1	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G204	ENST00000400191.3	37	c.612		1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt		0.627	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	protein_coding	OTTHUMT00000008060.2	C	NM_017449	-		23111370	1	no_errors	ENST00000400191	ensembl	human	known	74_37	silent	SNP	0.239	T	T	23111370	C	T	23111370	2	4	35	1	0	0	0	0	0	0	0	1	5177	755	27	1		1	EPHB2	1	23111370	Silent	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	7357694	23111370	226139251	2	2208											
NRD1	4898	genome.wustl.edu	37	chr1	52264037	52264037	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcaaagcctggtacttgtCaatcatagaccaacgggcat	8	11	3	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr1:52264037C>T	ENST00000354831.7	-	24	2881	c.2692G>A	c.(2692-2694)Gac>Aac	p.D898N	RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000544028.1_Missense_Mutation_p.D698N|NRD1_ENST00000539524.1_Missense_Mutation_p.D766N|RP4-657D16.6_ENST00000607338.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.D830N|RP4-657D16.3_ENST00000591675.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	829					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D898H(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGTACTTGTCAATCATAGAC	0.433																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000078618						81	80	80					1																	52264037		2203	4300	6503	NRD1	SO:0001583	missense	0			-	HGNC	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2692G>A	1.37:g.52264037C>T	ENSP00000346890:p.Asp898Asn	Somatic	0	26	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	175	30	85.37	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	27	0	0	69	86.52	443	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.D898N	ENST00000354831.7	37	c.2692	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744132	0.69418	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.64	5.64	0.86602	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.176228	0.51477	D	0.000086	T	0.47488	0.1448	L	0.60455	1.87	0.41784	D	0.989838	D;P;D	0.54772	0.962;0.937;0.968	P;P;P	0.57324	0.818;0.663;0.663	T	0.41106	-0.9527	10	0.87932	D	0	-17.108	15.3815	0.74661	0.0:0.8615:0.1385:0.0	.	830;829;898	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	N	830;898;766;260;830;698	ENSP00000262679:D830N;ENSP00000346890:D898N;ENSP00000444416:D766N;ENSP00000442262:D698N	ENSP00000262679:D830N	D	-	1	0	NRD1	52036625	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	2.227000	0.42972	2.937000	0.99478	0.650000	0.86243	GAC	-	superfamily_Metalloenz_LuxS/M16		0.433	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	protein_coding	OTTHUMT00000023045.1	C	NM_002525	-		52264037	-1	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52264037	C	T	52264037	3	4	35	1	0	0	0	0	1	0	0	0	10647	826	29	2	1007	2	NRD1	1	52264037	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	29152667	52264037	196986584	3	2209											
L1TD1	54596	genome.wustl.edu	37	chr1	62672850	62672850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttatgcaatatagatgacAgagatggaaatcgcaatgtc	9	7	0	3			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr1:62672850A>G	ENST00000498273.1	+	3	845	c.550A>G	c.(550-552)Aga>Gga	p.R184G		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	184										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tatagatgacagagatggaaa	0.368																																																	0								ENSG00000240563						20	19	19					1																	62672850		2121	4148	6269	L1TD1	SO:0001583	missense	0			-	HGNC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.550A>G	1.37:g.62672850A>G	ENSP00000419901:p.Arg184Gly	Somatic	0	34	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	62	10.14	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	31	0	0	107	20.15	27	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.R184G	ENST00000498273.1	37	c.550	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	A	0.898	-0.723340	0.03158	.	.	ENSG00000240563	ENST00000498273	T	0.14144	2.53	2.03	0.844	0.18943	.	.	.	.	.	T	0.08088	0.0202	N	0.24115	0.695	0.09310	N	1	B	0.28026	0.198	B	0.25291	0.059	T	0.33624	-0.9861	9	0.42905	T	0.14	.	4.9568	0.14046	0.6809:0.3191:0.0:0.0	.	184	Q5T7N2	LITD1_HUMAN	G	184	ENSP00000419901:R184G	ENSP00000419901:R184G	R	+	1	2	L1TD1	62445438	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.051000	0.11885	0.236000	0.21180	0.260000	0.18958	AGA	-	NULL		0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	protein_coding	OTTHUMT00000024688.1	A	NM_019079	-		62672850	1	no_errors	ENST00000498273	ensembl	human	known	74_37	missense	SNP	0.001	G	G	62672850	A	G	62672850	3	3	35	1	0	0	0	0	1	0	0	0	8591	180	7	5	552	5	L1TD1	1	62672850	Missense_Mutation	SNP	A	TCGA-DX-A2IZ-01A-11D-A21Q-09	10408813	62672850	186577771	4	2210											
SLC27A3	11000	genome.wustl.edu	37	chr1	153749685	153749685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgggcatcgtgggctGcatgggcattggtcagtctc	15	11	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr1:153749685G>T	ENST00000368661.3	+	3	1231	c.1166G>T	c.(1165-1167)tGc>tTc	p.C389F	SLC27A3_ENST00000271857.2_Missense_Mutation_p.C470F|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	389					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCGTGGGCTGCATGGGCATT	0.522																																																	0								ENSG00000143554						163	131	142					1																	153749685		2203	4300	6503	SLC27A3	SO:0001583	missense	0			-	HGNC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1166G>T	1.37:g.153749685G>T	ENSP00000357650:p.Cys389Phe	Somatic	0	48	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	26	0	0	42	0.00	0	pfam_AMP-dep_Synth/Lig	p.C389F	ENST00000368661.3	37	c.1166	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.635767|2.635767	0.47049|0.47049	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661	.|T;T	.|0.40225	.|1.04;1.04	4.92|4.92	3.99|3.99	0.46301|0.46301	.|AMP-dependent synthetase/ligase (1);	.|0.115023	.|0.64402	.|D	.|0.000010	T|T	0.57681|0.57681	0.2070|0.2070	M|M	0.86805|0.86805	2.84|2.84	0.41536|0.41536	D|D	0.988489|0.988489	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	T|T	0.66232|0.66232	-0.5975|-0.5975	5|10	.|0.87932	.|D	.|0	-28.7175|-28.7175	10.4274|10.4274	0.44387|0.44387	0.0:0.0:0.8055:0.1945|0.0:0.0:0.8055:0.1945	.|.	.|389	.|Q5K4L6	.|S27A3_HUMAN	S|F	94|470;389	.|ENSP00000271857:C470F;ENSP00000357650:C389F	.|ENSP00000271857:C470F	A|C	+|+	1|2	0|0	SLC27A3|SLC27A3	152016309|152016309	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.665000|0.665000	0.39181|0.39181	2.968000|2.968000	0.49224|0.49224	1.288000|1.288000	0.44600|0.44600	0.491000|0.491000	0.48974|0.48974	GCA|TGC	-	pfam_AMP-dep_Synth/Lig		0.522	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	protein_coding		G	NM_024330	-		153749685	1	no_errors	ENST00000368661	ensembl	human	known	74_37	missense	SNP	0.996	T	T	153749685	G	T	153749685	3	4	35	1	0	0	0	0	1	0	0	0	14535	1319	46	3	1176	3	SLC27A3	1	153749685	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	91076835	153749685	95500936	5	2211											
PTPRC	5788	genome.wustl.edu	37	chr1	198685967	198685967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcacaactaaaagtgCtcgtaagttatatgttttaa	5	6	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr1:198685967C>T	ENST00000367376.2	+	13	1613	c.1442C>T	c.(1441-1443)gCt>gTt	p.A481V	PTPRC_ENST00000352140.3_Missense_Mutation_p.A433V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A483V|PTPRC_ENST00000348564.6_Missense_Mutation_p.A322V|PTPRC_ENST00000594404.1_Missense_Mutation_p.A320V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	481	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACTAAAAGTGCTCGTAAGTTA	0.318																																																	0								ENSG00000081237						71	76	74					1																	198685967		2202	4299	6501	PTPRC	SO:0001583	missense	0			-	HGNC	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1442C>T	1.37:g.198685967C>T	ENSP00000356346:p.Ala481Val	Somatic	0	51	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	47	0	0	35	48.53	33	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A483V	ENST00000367376.2	37	c.1448		1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515370	0.27123	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56275	0.47	4.27	-8.55	0.00908	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.782880	0.03163	N	0.169655	T	0.45074	0.1324	M	0.68593	2.085	0.09310	N	1	P;P;B;B;B	0.43431	0.798;0.807;0.394;0.394;0.394	B;B;B;B;B	0.42245	0.381;0.169;0.048;0.104;0.104	T	0.53099	-0.8486	10	0.44086	T	0.13	.	2.6074	0.04881	0.504:0.1525:0.1992:0.1443	.	417;417;322;433;481	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	V	483;417;433;433;367;481;415;320	ENSP00000193532:A433V	ENSP00000306782:A320V	A	+	2	0	PTPRC	196952590	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.934000	0.01552	-1.903000	0.01093	-0.188000	0.12872	GCT	-	pirsf_Leukocyte_common_ag,superfamily_Fibronectin_type3		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	protein_coding		C		-		198685967	1	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	SNP	0.000	T	T	198685967	C	T	198685967	3	4	35	1	0	0	0	0	1	0	0	0	12805	797	28	2	1499	2	PTPRC	1	198685967	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	44936282	198685967	50564654	6	2212											
NEB	4703	genome.wustl.edu	37	chr2	152539275	152539275	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctattgtagtcagctttGtattcaacctaaaacaccaa	5	10	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr2:152539275G>T	ENST00000172853.10	-	29	2991	c.2844C>A	c.(2842-2844)taC>taA	p.Y948*	NEB_ENST00000604864.1_Nonsense_Mutation_p.Y948*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Y948*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Y948*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Y948*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Y948*			P20929	NEBU_HUMAN	nebulin	948					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)		AGTCAGCTTTGTATTCAACCT	0.393																																																	0								ENSG00000183091						103	100	101					2																	152539275		1892	4119	6011	NEB	SO:0001587	stop_gained	0			-	HGNC	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.2844C>A	2.37:g.152539275G>T	ENSP00000172853:p.Tyr948*	Somatic	0	48	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	27	0	0	55	1.79	1	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y948*	ENST00000172853.10	37	c.2844		2	.	.	.	.	.	.	.	.	.	.	G	42	9.639704	0.99226	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.89	4.07	0.47477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0476	0.53489	0.1451:0.0:0.8549:0.0	.	.	.	.	X	948	.	ENSP00000172853:Y948X	Y	-	3	2	NEB	152247521	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.623000	0.24447	1.489000	0.48450	0.561000	0.74099	TAC	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.393	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152539275	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	152539275	G	T	152539275	4	4	35	1	0	0	0	0	0	1	0	0	10304	1372	48	3	23458	3	NEB	2	152539275	Nonsense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		152539275	90660098	7	2213											
GALNT5	11227	genome.wustl.edu	37	chr2	158115495	158115495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagacacctttgggaagtTtgtcaaaggatgatggagct	13	5	1	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr2:158115495T>G	ENST00000259056.4	+	1	1386	c.901T>G	c.(901-903)Ttg>Gtg	p.L301V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	301					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTTGGGAAGTTTGTCAAAGGA	0.393																																																	0								ENSG00000136542						67	72	70					2																	158115495		2203	4300	6503	GALNT5	SO:0001583	missense	0			-	HGNC	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.901T>G	2.37:g.158115495T>G	ENSP00000259056:p.Leu301Val	Somatic	0	24	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	24	0	0	24	27.27	9	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L301V	ENST00000259056.4	37	c.901	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	T	5.697	0.313176	0.10789	.	.	ENSG00000136542	ENST00000259056	T	0.59638	0.25	5.66	-1.71	0.08133	.	6.084050	0.00166	N	0.000000	T	0.41994	0.1183	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04855	-1.0922	10	0.33940	T	0.23	.	0.7187	0.00936	0.3111:0.2113:0.1052:0.3725	.	301	Q7Z7M9	GALT5_HUMAN	V	301	ENSP00000259056:L301V	ENSP00000259056:L301V	L	+	1	2	GALNT5	157823741	0.006000	0.16342	0.001000	0.08648	0.000000	0.00434	-0.244000	0.08903	-0.718000	0.04949	-1.139000	0.01908	TTG	-	NULL		0.393	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	protein_coding	OTTHUMT00000254925.2	T	NM_014568	-		158115495	1	no_errors	ENST00000259056	ensembl	human	known	74_37	missense	SNP	0.000	G	G	158115495	T	G	158115495	3	3	35	1	0	0	0	0	1	0	0	0	6218	1838	64	5	903	5	GALNT5	2	158115495	Missense_Mutation	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09	5576220	158115495	85083878	8	2214											
CHN1	1123	genome.wustl.edu	37	chr2	175666532	175666532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccaattgctcatccggatCcataatttctaaaatagcaa	4	10	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr2:175666532C>A	ENST00000409900.3	-	12	1424	c.1111G>T	c.(1111-1113)Gat>Tat	p.D371Y	CHN1_ENST00000409156.3_Missense_Mutation_p.D345Y|CHN1_ENST00000295497.7_Missense_Mutation_p.D246Y|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.D187Y	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	371	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCATCCGGATCCATAATTTCT	0.408			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0								ENSG00000128656						150	148	149					2																	175666532		1895	4128	6023	CHN1	SO:0001583	missense	0			-	HGNC		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1111G>T	2.37:g.175666532C>A	ENSP00000386741:p.Asp371Tyr	Somatic	0	51	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	34	0	0	36	30.77	16	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.D371Y	ENST00000409900.3	37	c.1111	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.317894	0.81469	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.42	4.55	0.56014	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	H	0.97265	3.97	0.80722	D	1	D;D;D	0.61697	0.99;0.984;0.961	P;P;P	0.59595	0.86;0.84;0.514	T	0.67722	-0.5597	10	0.87932	D	0	.	13.5203	0.61563	0.0:0.9247:0.0:0.0753	.	345;371;246	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	Y	371;246;187;345;163;146	ENSP00000386741:D371Y;ENSP00000295497:D246Y;ENSP00000386469:D187Y;ENSP00000386470:D345Y;ENSP00000386322:D163Y;ENSP00000411911:D146Y	ENSP00000295497:D246Y	D	-	1	0	CHN1	175374778	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.818000	0.86416	1.419000	0.47118	0.591000	0.81541	GAT	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom		0.408	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	protein_coding	OTTHUMT00000334453.1	C	NM_001822	-		175666532	-1	no_errors	ENST00000409900	ensembl	human	known	74_37	missense	SNP	1.000	A	A	175666532	C	A	175666532	3	1	35	1	0	0	0	0	1	0	0	0	3364	855	30	3	276	3	CHN1	2	175666532	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	17551037	175666532	67532841	9	2215											
TRAK2	66008	genome.wustl.edu	37	chr2	202259569	202259569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagcttgcaggtgaagTtttagttcttccttctcaat	9	7	2	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr2:202259569T>G	ENST00000332624.3	-	9	1355	c.927A>C	c.(925-927)aaA>aaC	p.K309N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	309	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GCAGGTGAAGTTTTAGTTCTT	0.358																																																	0								ENSG00000115993						117	102	107					2																	202259569		2203	4300	6503	TRAK2	SO:0001583	missense	0			-	HGNC	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.927A>C	2.37:g.202259569T>G	ENSP00000328875:p.Lys309Asn	Somatic	0	76	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	41	0	0	41	39.71	27	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.K309N	ENST00000332624.3	37	c.927	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486174	0.44147	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.17528	2.27	5.51	2.8	0.32819	.	0.126462	0.52532	D	0.000065	T	0.08891	0.0220	N	0.14661	0.345	0.80722	D	1	B	0.31459	0.324	B	0.30179	0.112	T	0.27157	-1.0082	10	0.16896	T	0.51	.	10.6744	0.45776	0.0:0.1476:0.0:0.8524	.	309	O60296	TRAK2_HUMAN	N	309;215	ENSP00000328875:K309N	ENSP00000328875:K309N	K	-	3	2	TRAK2	201967814	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.041000	0.49807	0.922000	0.37019	0.455000	0.32223	AAA	-	pfam_HAP1_N		0.358	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	protein_coding	OTTHUMT00000256284.3	T	NM_015049	-		202259569	-1	no_errors	ENST00000332624	ensembl	human	known	74_37	missense	SNP	1.000	G	G	202259569	T	G	202259569	3	3	35	1	0	0	0	0	1	0	0	0	16457	1722	60	5	1849	5	TRAK2	2	202259569	Missense_Mutation	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09	26593037	202259569	40939804	10	2216											
DNAH12	201625	genome.wustl.edu	37	chr3	57443570	57443570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcaatcagctccactcGctcgccctcagagctataca	8	15	2	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr3:57443570G>A	ENST00000351747.2	-	22	3325	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1049	Stem. {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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AGCTCCACTCGCTCGCCCTCA	0.473																																																	0								ENSG00000174844						106	97	100					3																	57443570		692	1591	2283	DNAH12	SO:0001587	stop_gained	0			-	HGNC	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.3145C>T	3.37:g.57443570G>A	ENSP00000295937:p.Arg1049*	Somatic	0	58	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	35	0	0	33	43.10	25	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1049*	ENST00000351747.2	37	c.3145		3	.	.	.	.	.	.	.	.	.	.	G	40	8.141422	0.98675	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	.	.	.	5.58	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	15.8292	0.78739	0.0:0.0:0.863:0.137	.	.	.	.	X	1049;1072	.	ENSP00000295937:R1049X	R	-	1	2	DNAH12	57418610	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	4.754000	0.62191	1.320000	0.45209	-0.182000	0.12963	CGA	-	pfam_Dynein_heavy_dom-2		0.473	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	protein_coding		G	NM_178504	-		57443570	-1	no_errors	ENST00000351747	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	57443570	G	A	57443570	4	1	35	1	0	0	0	0	0	1	0	0	4602	1095	38	1	6285	1	DNAH12	3	57443570	Nonsense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		57443570	140578860	11	2217											
ARL13B	200894	genome.wustl.edu	37	chr3	93769680	93769680	+	Frame_Shift_Del	DEL	C	C	-													ttctttagttggctggggaaCccctaaagtcactagacttc							TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr3:93769680delC	ENST00000394222.3	+	9	1429	c.1154delC	c.(1153-1155)accfs	p.T385fs	ARL13B_ENST00000539730.1_Frame_Shift_Del_p.T106fs|ARL13B_ENST00000471138.1_Frame_Shift_Del_p.T385fs|ARL13B_ENST00000535334.1_Frame_Shift_Del_p.T282fs|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Frame_Shift_Del_p.T278fs	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	385	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GGCTGGGGAACCCCTAAAGTC	0.383																																																	0								ENSG00000169379						77	78	78					3																	93769680		2203	4300	6503	ARL13B	SO:0001589	frameshift_variant	0				HGNC	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1154delC	3.37:g.93769680delC	ENSP00000377769:p.Thr385fs	Somatic	0	33	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	D3DN29|G3V1S8|Q504W8|Q8TCL5	Frame_Shift_Del	DEL	40	0	0	30	50.00	30	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.P386fs	ENST00000394222.3	37	c.1154	CCDS2925.1	3																																																																																			-	NULL		0.383	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	protein_coding	OTTHUMT00000352904.1	C	NM_182896			93769680	1	no_errors	ENST00000394222	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	93769680	C	-	93769680	7	5	35	1	0	1	0	1	0	0	0	0	929	507	18	0	1188	0	ARL13B	3	93769680	Frame_Shift_Del	DEL	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	36326110	93769680	104252750	12	2218											
HNRPDL	9987	genome.wustl.edu	37	chr4	83350511	83350511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagctgtcggcagggggGtgctggcgcgcagtccgggt	21	10	0	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr4:83350511G>A	ENST00000295470.5	-	1	508	c.333C>T	c.(331-333)caC>caT	p.H111H	HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Silent_p.H111H|HNRNPDL_ENST00000602300.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	111					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGGCAGGGGGGTGCTGGCGCG	0.612																																																	0								ENSG00000152795						59	71	67					4																	83350511		2203	4300	6503	HNRNPDL	SO:0001819	synonymous_variant	0			-	HGNC	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.333C>T	4.37:g.83350511G>A		Somatic	0	74	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	12	69.57	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	25	0	0	7	63.16	12	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H111	ENST00000295470.5	37	c.333	CCDS3593.1	4																																																																																			-	NULL		0.612	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	protein_coding	OTTHUMT00000252644.1	G	NM_005463	-		83350511	-1	no_errors	ENST00000295470	ensembl	human	known	74_37	silent	SNP	0.080	A	A	83350511	G	A	83350511	2	1	35	1	0	0	0	0	0	0	0	1	7278	1252	44	2		2	HNRPDL	4	83350511	Silent	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		83350511	107803765	13	2219											
WDFY3	23001	genome.wustl.edu	37	chr4	85738579	85738579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaactgcaattccgtcGgtggggctgaatgcattagc	11	10	2	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr4:85738579G>A	ENST00000295888.4	-	13	2260	c.1853C>T	c.(1852-1854)cCg>cTg	p.P618L	WDFY3_ENST00000322366.6_Missense_Mutation_p.P618L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	618					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAATTCCGTCGGTGGGGCTGA	0.453																																																	0								ENSG00000163625						141	143	142					4																	85738579		2203	4300	6503	WDFY3	SO:0001583	missense	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1853C>T	4.37:g.85738579G>A	ENSP00000295888:p.Pro618Leu	Somatic	0	40	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	18	0	0	33	0.00	0	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P618L	ENST00000295888.4	37	c.1853	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525477	0.64860	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63580	-0.05;-0.05	5.47	5.47	0.80525	Armadillo-like helical (1);	0.056003	0.64402	D	0.000001	T	0.52885	0.1762	L	0.46157	1.445	0.80722	D	1	B;B	0.33120	0.398;0.271	B;B	0.22880	0.042;0.042	T	0.51957	-0.8639	10	0.13108	T	0.6	.	19.3245	0.94256	0.0:0.0:1.0:0.0	.	618;618	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	L	618	ENSP00000318466:P618L;ENSP00000295888:P618L	ENSP00000295888:P618L	P	-	2	0	WDFY3	85957603	1.000000	0.71417	0.975000	0.42487	0.929000	0.56500	5.976000	0.70484	2.581000	0.87130	0.563000	0.77884	CCG	-	superfamily_ARM-type_fold		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991	-		85738579	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85738579	G	A	85738579	3	1	35	1	0	0	0	0	1	0	0	0	17277	1116	39	1	8994	1	WDFY3	4	85738579	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	2388068	85738579	105415697	14	2220											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	173084	173084	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctgcgggaggaagaagtatCtgaggcatgtgttcctcttt	14	7	2	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr5:173084C>G	ENST00000283426.6	+	15	3105	c.3055C>G	c.(3055-3057)Ctg>Gtg	p.L1019V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1019	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGAAGTATCTGAGGCATGT	0.512																																																	0								ENSG00000153404						149	138	142					5																	173084		2203	4300	6503	PLEKHG4B	SO:0001583	missense	0			-	HGNC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3055C>G	5.37:g.173084C>G	ENSP00000283426:p.Leu1019Val	Somatic	1	117	0.85		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	369	86	81.10		Missense_Mutation	SNP	25	0	0	45	79.82	178	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1019V	ENST00000283426.6	37	c.3055	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	3.497	-0.102690	0.06967	.	.	ENSG00000153404	ENST00000283426	T	0.12361	2.69	3.1	2.21	0.28008	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.12689	0.0308	L	0.49640	1.575	0.29752	N	0.836216	B	0.24483	0.104	B	0.27608	0.081	T	0.29971	-0.9994	9	0.16420	T	0.52	.	9.072	0.36497	0.2213:0.7787:0.0:0.0	.	1019	Q96PX9	PKH4B_HUMAN	V	1019	ENSP00000283426:L1019V	ENSP00000283426:L1019V	L	+	1	2	PLEKHG4B	226084	0.992000	0.36948	0.059000	0.19551	0.079000	0.17450	1.191000	0.32138	0.281000	0.22233	-0.470000	0.05040	CTG	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.512	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	C	NM_052909	-		173084	1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	SNP	1.000	G	G	173084	C	G	173084	3	3	35	1	0	0	0	0	1	0	0	0	12074	912	32	4	3113	4	PLEKHG4B	5	173084	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09		173084	180742176	15	2221											
FSTL4	23105	genome.wustl.edu	37	chr5	132545944	132545944	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggacccacacttggtcatgtGacttgtcataggacagctta	10	10	2	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr5:132545944G>A	ENST00000265342.7	-	14	1904	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	552						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGTCATGTGACTTGTCATA	0.512																																																	0								ENSG00000053108						83	73	77					5																	132545944		2203	4300	6503	FSTL4	SO:0001583	missense	0			-	HGNC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1655C>T	5.37:g.132545944G>A	ENSP00000265342:p.Ser552Leu	Somatic	0	52	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	17	54.05	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	29	0	0	20	45.95	17	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.S552L	ENST00000265342.7	37	c.1655	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889462	0.91889	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.31247	1.5	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.56727	-0.7931	10	0.27785	T	0.31	-4.2448	16.6893	0.85317	0.0:0.0:1.0:0.0	.	552;201	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	L	552;383	ENSP00000265342:S552L	ENSP00000265342:S552L	S	-	2	0	FSTL4	132573843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.333000	0.90026	2.264000	0.75181	0.585000	0.79938	TCA	-	NULL		0.512	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	protein_coding	OTTHUMT00000370212.1	G	XM_048786	-		132545944	-1	no_errors	ENST00000265342	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132545944	G	A	132545944	3	1	35	1	0	0	0	0	1	0	0	0	6081	1294	45	2	885	2	FSTL4	5	132545944	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	132372860	132545944	48369316	16	2222											
ARAP3	64411	genome.wustl.edu	37	chr5	141038168	141038168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgacacagttgtctGggagctgctgctctatataa	12	8	3	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr5:141038168G>T	ENST00000239440.4	-	24	3454	c.3389C>A	c.(3388-3390)cCa>cAa	p.P1130Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.P961Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.P792Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1130	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACAGTTGTCTGGGAGCTGCTG	0.502																																																	0								ENSG00000120318						53	51	52					5																	141038168		2203	4300	6503	ARAP3	SO:0001583	missense	0			-	HGNC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3389C>A	5.37:g.141038168G>T	ENSP00000239440:p.Pro1130Gln	Somatic	0	45	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4DIT1|D3DQE3	Missense_Mutation	SNP	30	0	0	42	0.00	0	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.P1130Q	ENST00000239440.4	37	c.3389	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631562	0.87660	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.17370	2.28;2.28;2.28	5.99	5.99	0.97316	Ras-association (2);	0.163605	0.53938	D	0.000044	T	0.41351	0.1155	L	0.58810	1.83	0.80722	D	1	D;D;D	0.76494	0.979;0.999;0.997	P;D;D	0.70016	0.866;0.967;0.93	T	0.03641	-1.1017	10	0.62326	D	0.03	.	20.0438	0.97602	0.0:0.0:1.0:0.0	.	792;961;1130	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	961;1130;792	ENSP00000421826:P961Q;ENSP00000239440:P1130Q;ENSP00000421468:P792Q	ENSP00000239440:P1130Q	P	-	2	0	ARAP3	141018352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.843000	0.97960	0.655000	0.94253	CCA	-	pfam_Ras-assoc,pfscan_Ras-assoc		0.502	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	protein_coding	OTTHUMT00000251805.1	G	NM_022481	-		141038168	-1	no_errors	ENST00000239440	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141038168	G	T	141038168	3	4	35	1	0	0	0	0	1	0	0	0	840	1348	47	3	1285	3	ARAP3	5	141038168	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	8492224	141038168	39877092	17	2223											
DCTN4	51164	genome.wustl.edu	37	chr5	150097914	150097914	+	Frame_Shift_Del	DEL	G	G	-													catgggtgaggttctcaactGgatttgtaagagtcaggagg							TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr5:150097914delG	ENST00000447998.2	-	11	1110	c.995delC	c.(994-996)ccafs	p.P332fs	DCTN4_ENST00000424236.1_Frame_Shift_Del_p.P275fs|DCTN4_ENST00000446090.2_Frame_Shift_Del_p.P339fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	332					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCTCAACTGGATTTGTAAG	0.488																																																	0								ENSG00000132912						114	99	104					5																	150097914		2203	4300	6503	DCTN4	SO:0001589	frameshift_variant	0				HGNC	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.995delC	5.37:g.150097914delG	ENSP00000416968:p.Pro332fs	Somatic	0	62	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42	B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Frame_Shift_Del	DEL	27	0	0	33	25.00	11	pfam_Dynactin_p62	p.P339fs	ENST00000447998.2	37	c.1016	CCDS4310.1	5																																																																																			-	pfam_Dynactin_p62		0.488	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	protein_coding	OTTHUMT00000252372.1	G				150097914	-1	no_errors	ENST00000446090	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	150097914	G	-	150097914	7	5	35	1	0	1	0	1	0	0	0	0	4311	1348	47	0	399	0	DCTN4	5	150097914	Frame_Shift_Del	DEL	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	9059746	150097914	30817346	18	2224											
SERPINB1	1992	genome.wustl.edu	37	chr6	2840713	2840713	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccatggccatagcagaTgaaatgctgaagggagagat	12	6	0	4			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr6:2840713T>G	ENST00000380739.5	-	2	310	c.108A>C	c.(106-108)tcA>tcC	p.S36S	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	36					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CCATAGCAGATGAAATGCTGA	0.517																																																	0								ENSG00000021355						90	85	87					6																	2840713		2203	4300	6503	SERPINB1	SO:0001819	synonymous_variant	0			-	HGNC	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.108A>C	6.37:g.2840713T>G		Somatic	0	79	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	57	29.63	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	30	0	0	25	50.98	26	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S36	ENST00000380739.5	37	c.108	CCDS4477.1	6																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	protein_coding	OTTHUMT00000039637.1	T		-		2840713	-1	no_errors	ENST00000380739	ensembl	human	known	74_37	silent	SNP	0.029	G	G	2840713	T	G	2840713	2	3	35	1	0	0	0	0	0	0	0	1	14104	1451	51	5		5	SERPINB1	6	2840713	Silent	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09		2840713	168274354	19	2225											
REV3L	5980	genome.wustl.edu	37	chr6	111680107	111680107	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctggcagtggagtgtcAgatgagatgcagtagaacag	15	5	2	3			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr6:111680107A>C	ENST00000358835.3	-	18	7444	c.6990T>G	c.(6988-6990)tcT>tcG	p.S2330S	REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000435970.1_Silent_p.S2252S|REV3L_ENST00000368805.1_Silent_p.S2330S|REV3L_ENST00000368802.3_Silent_p.S2330S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2330					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGGAGTGTCAGATGAGATGC	0.408								DNA polymerases (catalytic subunits)																																									0								ENSG00000009413						158	146	150					6																	111680107		2203	4300	6503	REV3L	SO:0001819	synonymous_variant	0			-	HGNC	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6990T>G	6.37:g.111680107A>C		Somatic	0	57	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	O43214|Q5TC33	Silent	SNP	21	0	0	28	34.88	15	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S2330	ENST00000358835.3	37	c.6990	CCDS5091.2	6																																																																																			-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.408	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	A	NM_002912	-		111680107	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	silent	SNP	0.996	C	C	111680107	A	C	111680107	2	2	35	1	0	0	0	0	0	0	0	1	13248	175	7	5		5	REV3L	6	111680107	Silent	SNP	A	TCGA-DX-A2IZ-01A-11D-A21Q-09	108839394	111680107	59434960	20	2226											
PCLO	27445	genome.wustl.edu	37	chr7	82784233	82784233	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgaaggaggctgttttgcaGatggagacactgttggtggc	17	5	0	3			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr7:82784233G>C	ENST00000333891.9	-	2	2061	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	PCLO_ENST00000423517.2_Missense_Mutation_p.S575C	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						CTGTTTTGCAGATGGAGACAC	0.483																																																	0								ENSG00000186472						373	371	372					7																	82784233		2012	4174	6186	PCLO	SO:0001583	missense	0			-	HGNC	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.1724C>G	7.37:g.82784233G>C	ENSP00000334319:p.Ser575Cys	Somatic	0	129	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	63	42.73		Missense_Mutation	SNP	28	0	0	33	32.65	16	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S575C	ENST00000333891.9	37	c.1724	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	1.340	-0.594338	0.03771	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.26;2.25	5.1	4.2	0.49525	.	.	.	.	.	T	0.21022	0.0506	L	0.27053	0.805	0.47621	D	0.999473	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.01661	-1.1301	9	0.87932	D	0	.	13.237	0.59974	0.0:0.161:0.839:0.0	.	575;575	Q9Y6V0-5;Q9Y6V0-6	.;.	C	521;575;575	ENSP00000334319:S575C;ENSP00000388393:S575C	ENSP00000334319:S575C	S	-	2	0	PCLO	82622169	0.561000	0.26578	0.866000	0.34008	0.047000	0.14425	0.869000	0.27996	1.111000	0.41721	0.557000	0.71058	TCT	-	NULL		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82784233	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.665	C	C	82784233	G	C	82784233	3	2	35	1	0	0	0	0	1	0	0	0	11585	942	33	4	13817	4	PCLO	7	82784233	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		82784233	76354430	21	2227											
MET	4233	genome.wustl.edu	37	chr7	116371840	116371840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagcgaagtcctcttaaCatctatatccaccttcatta	3	12	4	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr7:116371840C>T	ENST00000318493.6	+	3	1506	c.1319C>T	c.(1318-1320)aCa>aTa	p.T440I	MET_ENST00000436117.2_Missense_Mutation_p.T440I|MET_ENST00000397752.3_Missense_Mutation_p.T440I|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTCCTCTTAACATCTATATCC	0.468			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0								ENSG00000105976						120	113	115					7																	116371840		1926	4121	6047	MET	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	-	HGNC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1319C>T	7.37:g.116371840C>T	ENSP00000317272:p.Thr440Ile	Somatic	0	69	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	27	0	0	27	35.71	15	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T440I	ENST00000318493.6	37	c.1319	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913253	0.72983	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.17213	2.29;2.29;2.29	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	M	0.91406	3.205	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999	T	0.63959	-0.6519	10	0.87932	D	0	-15.7875	19.5825	0.95473	0.0:1.0:0.0:0.0	.	440;440;440;440;440;440;440;440;440;440;440	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	I	440	ENSP00000380860:T440I;ENSP00000317272:T440I;ENSP00000410980:T440I	ENSP00000317272:T440I	T	+	2	0	MET	116159076	1.000000	0.71417	0.997000	0.53966	0.731000	0.41821	5.989000	0.70587	2.624000	0.88883	0.655000	0.94253	ACA	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.468	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	protein_coding	OTTHUMT00000059620.3	C		-		116371840	1	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116371840	C	T	116371840	3	4	35	1	0	0	0	0	1	0	0	0	9487	478	17	2	1325	2	MET	7	116371840	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	33587607	116371840	42766823	22	2228											
CLVS1	157807	genome.wustl.edu	37	chr8	62371079	62371081	+	In_Frame_Del	DEL	TGC	TGC	-													cctcgaatctggagagagaaTgctcacccaagctgatgaaa							TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr8:62371079_62371081delTGC	ENST00000519846.1	+	6	1427_1429	c.955_957delTGC	c.(955-957)tgcdel	p.C319del	CLVS1_ENST00000518592.1_In_Frame_Del_p.C40del|CLVS1_ENST00000325897.4_In_Frame_Del_p.C319del			Q8IUQ0	CLVS1_HUMAN	clavesin 1	319					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)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGAGAGAGAATGCTCACCCAAGC	0.453																																																	0								ENSG00000177182																																			CLVS1	SO:0001651	inframe_deletion	0				HGNC	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.955_957delTGC	8.37:g.62371079_62371081delTGC	ENSP00000428402:p.Cys319del	Somatic	0	42	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	B2R7M5|C8UZT3|Q8NB32	In_Frame_Del	DEL	27	0	0	30	41.18	21	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.C319in_frame_del	ENST00000519846.1	37	c.955_957	CCDS6176.1	8																																																																																			-	NULL		0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	protein_coding	OTTHUMT00000378323.1	TGC	NM_173519			62371081	1	no_errors	ENST00000325897	ensembl	human	known	74_37	in_frame_del	DEL	0.586:0.792:0.937	-	-	62371081	TGC	-	62371079	7	5	35	1	0	1	0	1	0	0	0	0	3573	1464	51	0	969	0	CLVS1	8	62371079	In_Frame_Del	DEL	TGC	TCGA-DX-A2IZ-01A-11D-A21Q-09		62371079	83992943	23	2229											
FER1L6	654463	genome.wustl.edu	37	chr8	125113350	125113350	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttaggtggttaaagggCttggaggatgacaagcagga	15	3	0	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr8:125113350C>A	ENST00000522917.1	+	38	5102	c.4896C>A	c.(4894-4896)ggC>ggA	p.G1632G	FER1L6_ENST00000399018.1_Silent_p.G1632G|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1632	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGTTAAAGGGCTTGGAGGATG	0.408																																																	0								ENSG00000214814						83	84	84					8																	125113350		2069	4247	6316	FER1L6	SO:0001819	synonymous_variant	0			-	HGNC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4896C>A	8.37:g.125113350C>A		Somatic	0	30	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89		Silent	SNP	25	0	0	21	51.16	22	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.G1632	ENST00000522917.1	37	c.4896	CCDS43767.1	8																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.408	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	C	NM_001039112	-		125113350	1	no_errors	ENST00000399018	ensembl	human	known	74_37	silent	SNP	0.012	A	A	125113350	C	A	125113350	2	1	35	1	0	0	0	0	0	0	0	1	5817	784	28	3		3	FER1L6	8	125113350	Silent	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	62742271	125113350	21250672	24	2230											
RGR	5995	genome.wustl.edu	37	chr10	86007502	86007502	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccacatccagccttctcCggtaccagccccctccccag	6	22	1	0	rs201335015		TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr10:86007502C>T	ENST00000359452.4	+	2	273	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	RGR_ENST00000372092.3_Splice_Site_p.P62L|RGR_ENST00000358110.5_Splice_Site_p.R79W	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	79					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CAGCCTTCTCCGGTACCAGCC	0.642																																					NSCLC(15;204 545 5889 6385 32445)												0								ENSG00000148604						60	56	57					10																	86007502		2203	4300	6503	RGR	SO:0001630	splice_region_variant	0			-	HGNC	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.236+1C>T	10.37:g.86007502C>T		Somatic	0	69	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	30	36.17	A6NKK7|Q96FC5	Missense_Mutation	SNP	29	0	0	25	30.56	11	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn	p.R79C	ENST00000359452.4	37	c.235	CCDS7374.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.85|17.85|17.85	3.489577|3.489577|3.489577	0.64074|0.64074|0.64074	.|.|.	.|.|.	ENSG00000148604|ENSG00000148604|ENSG00000148604	ENST00000372092|ENST00000359452|ENST00000358110	.|T|T	.|0.37752|0.37915	.|1.18|1.17	4.33|4.33|4.33	2.4|2.4|2.4	0.29515|0.29515|0.29515	.|.|GPCR, rhodopsin-like superfamily (1);	.|0.000000|0.000000	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	T|T|T	0.57388|0.57388|0.57388	0.2050|0.2050|0.2050	M|M|M	0.82716|0.82716|0.82716	2.605|2.605|2.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|D|D;D	0.46327|0.69078|0.89917	0.876|0.997|1.0;1.0	B|P|D;D	0.36666|0.51016|0.79784	0.23|0.656|0.988;0.993	T|T|T	0.57854|0.57854|0.57854	-0.7739|-0.7739|-0.7739	8|10|10	0.87932|0.56958|0.87932	D|D|D	0|0.05|0	.|.|.	7.7907|7.7907|7.7907	0.29119|0.29119|0.29119	0.2709:0.4496:0.2795:0.0|0.2709:0.4496:0.2795:0.0|0.2709:0.4496:0.2795:0.0	.|.|.	62|79|79;79	Q96HT6|P47804-2|P47804-3;P47804	.|.|.;RGR_HUMAN	L|C|W	62|79|79	.|ENSP00000352427:R79C|ENSP00000350823:R79W	ENSP00000361164:P62L|ENSP00000352427:R79C|ENSP00000350823:R79W	P|R|R	+|+|+	2|1|1	0|0|2	RGR|RGR|RGR	85997482|85997482|85997482	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.902000|0.902000|0.902000	0.53008|0.53008|0.53008	3.766000|3.766000|3.766000	0.55280|0.55280|0.55280	0.505000|0.505000|0.505000	0.28104|0.28104|0.28104	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	CCG|CGT|CGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.642	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	protein_coding	OTTHUMT00000049116.1	C	NM_002921	rs201335015	Missense_Mutation	86007502	1	no_errors	ENST00000359452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86007502	C	T	86007502	5	4	35	1	0	0	0	0	0	0	1	0	13299	666	23	1	241	1	RGR	10	86007502	Splice_Site	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09		86007502	49527245	25	2231											
INA	9118	genome.wustl.edu	37	chr10	105038013	105038013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaggagcggcacagtGccgaggtagctggctaccag	17	10	0	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr10:105038013G>A	ENST00000369849.4	+	1	1094	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	349	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGGCACAGTGCCGAGGTAGC	0.692																																																	0								ENSG00000148798						8	7	7					10																	105038013		2134	4230	6364	INA	SO:0001583	missense	0			-	HGNC	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1045G>A	10.37:g.105038013G>A	ENSP00000358865:p.Ala349Thr	Somatic	0	51	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	13	60.61	B1AQK0|Q9BRC5	Missense_Mutation	SNP	25	0	0	22	46.34	19	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.A349T	ENST00000369849.4	37	c.1045	CCDS7545.1	10	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934234	0.52866	.	.	ENSG00000148798	ENST00000369849	D	0.95724	-3.79	4.54	4.54	0.55810	Filament (1);	0.113981	0.64402	D	0.000018	D	0.95105	0.8414	L	0.38733	1.17	0.44485	D	0.997424	D;D	0.56035	0.974;0.974	P;P	0.57720	0.826;0.826	D	0.93291	0.6668	10	0.21540	T	0.41	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	182;349	Q59EM6;Q16352	.;AINX_HUMAN	T	349	ENSP00000358865:A349T	ENSP00000358865:A349T	A	+	1	0	INA	105028003	0.036000	0.19791	0.986000	0.45419	0.986000	0.74619	2.188000	0.42612	2.508000	0.84585	0.561000	0.74099	GCC	-	pfam_IF		0.692	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INA	protein_coding	OTTHUMT00000050145.1	G	NM_032727	-		105038013	1	no_errors	ENST00000369849	ensembl	human	known	74_37	missense	SNP	0.984	A	A	105038013	G	A	105038013	3	1	35	1	0	0	0	0	1	0	0	0	7732	1319	46	2	1047	2	INA	10	105038013	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	19030511	105038013	30496734	26	2232											
TRIM22	10346	genome.wustl.edu	37	chr11	5730822	5730822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctcgacctgcttatccgTatttcaatccttggaactgc	6	12	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr11:5730822T>C	ENST00000379965.3	+	8	1718	c.1441T>C	c.(1441-1443)Tat>Cat	p.Y481H	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	481	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGCTTATCCGTATTTCAATCC	0.483																																					GBM(104;491 2336 5222)												0								ENSG00000132274						142	147	146					11																	5730822		2194	4294	6488	TRIM22	SO:0001583	missense	0			-	HGNC	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1441T>C	11.37:g.5730822T>C	ENSP00000369299:p.Tyr481His	Somatic	0	39	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	Q05CQ0|Q15521	Missense_Mutation	SNP	33	0	0	33	36.54	19	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y481H	ENST00000379965.3	37	c.1441	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231553	0.79688	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.69685	-0.42	3.88	3.88	0.44766	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.84147	0.5408	H	0.94808	3.585	0.24263	N	0.995271	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.73965	-0.3816	9	0.87932	D	0	.	6.3776	0.21515	0.0:0.1173:0.0:0.8827	.	403;477;481	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	H	481;292;403	ENSP00000369299:Y481H	ENSP00000369299:Y481H	Y	+	1	0	TRIM22	5687398	0.999000	0.42202	0.810000	0.32431	0.669000	0.39330	5.351000	0.66022	1.721000	0.51461	0.383000	0.25322	TAT	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.483	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	protein_coding	OTTHUMT00000143387.2	T	NM_006074	-		5730822	1	no_errors	ENST00000379965	ensembl	human	known	74_37	missense	SNP	0.976	C	C	5730822	T	C	5730822	3	2	35	1	0	0	0	0	1	0	0	0	16503	1638	57	5	1467	5	TRIM22	11	5730822	Missense_Mutation	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09		5730822	129275694	27	2233											
FAT3	120114	genome.wustl.edu	37	chr11	92534174	92534174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatggtcacaaagggtaaTtttaaccagctgaaaaatac	9	6	1	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr11:92534174T>G	ENST00000298047.6	+	9	8012	c.7995T>G	c.(7993-7995)aaT>aaG	p.N2665K	FAT3_ENST00000409404.2_Missense_Mutation_p.N2665K|FAT3_ENST00000525166.1_Missense_Mutation_p.N2515K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2665	Cadherin 24. {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)				CAAAGGGTAATTTTAACCAGC	0.458										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						39	37	37					11																	92534174		1878	4108	5986	FAT3	SO:0001583	missense	0			-	HGNC	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.7995T>G	11.37:g.92534174T>G	ENSP00000298047:p.Asn2665Lys	Somatic	0	47	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	B5MDB0|Q96AU6	Missense_Mutation	SNP	23	0	0	23	51.06	24	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N2665K	ENST00000298047.6	37	c.7995		11	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235259	0.39498	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51071	0.72;0.72;0.72	6.17	-1.59	0.08453	.	.	.	.	.	T	0.28499	0.0705	L	0.27053	0.805	0.80722	D	1	B	0.24132	0.098	B	0.23852	0.049	T	0.07809	-1.0753	9	0.19147	T	0.46	.	8.4555	0.32897	0.0:0.4516:0.1197:0.4287	.	2665	Q8TDW7-3	.	K	2665;2665;2515	ENSP00000298047:N2665K;ENSP00000387040:N2665K;ENSP00000432586:N2515K	ENSP00000298047:N2665K	N	+	3	2	FAT3	92173822	0.940000	0.31905	0.679000	0.29978	0.964000	0.63967	0.319000	0.19522	-0.530000	0.06349	-0.250000	0.11733	AAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		T	NM_001008781	-		92534174	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	0.763	G	G	92534174	T	G	92534174	3	3	35	1	0	0	0	0	1	0	0	0	5693	1490	52	5	8029	5	FAT3	11	92534174	Missense_Mutation	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09	86803352	92534174	42472342	28	2234											
ANO6	196527	genome.wustl.edu	37	chr12	45816840	45816840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggcttttatcattgtcAtggaggtaggaaaagtatgc	12	5	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:45816840A>G	ENST00000320560.8	+	19	2723	c.2521A>G	c.(2521-2523)Atg>Gtg	p.M841V	ANO6_ENST00000423947.3_Missense_Mutation_p.M862V|ANO6_ENST00000425752.2_Missense_Mutation_p.M841V|ANO6_ENST00000435642.1_Missense_Mutation_p.M841V|ANO6_ENST00000441606.2_Missense_Mutation_p.M823V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	841					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TATCATTGTCATGGAGGTAGG	0.413																																																	0								ENSG00000177119						115	111	112					12																	45816840		2203	4300	6503	ANO6	SO:0001583	missense	0			-	HGNC	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2521A>G	12.37:g.45816840A>G	ENSP00000320087:p.Met841Val	Somatic	0	76	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	24	0	0	25	0.00	0	pfam_Anoctamin	p.M841V	ENST00000320560.8	37	c.2521	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098494	0.37048	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.62364	2.6;0.03;2.6;0.03;0.03	4.76	3.6	0.41247	.	0.232072	0.44285	N	0.000474	T	0.51329	0.1668	L	0.31804	0.96	0.43965	D	0.996649	B;B;B;B	0.27559	0.181;0.022;0.027;0.069	B;B;B;B	0.33392	0.163;0.027;0.02;0.032	T	0.51379	-0.8713	10	0.56958	D	0.05	.	10.8773	0.46919	0.9241:0.0:0.0759:0.0	.	823;862;841;841	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	V	841;862;841;841;823	ENSP00000391417:M841V;ENSP00000409126:M862V;ENSP00000413840:M841V;ENSP00000320087:M841V;ENSP00000413137:M823V	ENSP00000320087:M841V	M	+	1	0	ANO6	44103107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.037000	0.57311	0.897000	0.36392	0.533000	0.62120	ATG	-	pfam_Anoctamin		0.413	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	protein_coding	OTTHUMT00000404822.1	A	XM_113743	-		45816840	1	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	SNP	1.000	G	G	45816840	A	G	45816840	3	3	35	1	0	0	0	0	1	0	0	0	701	217	8	5	2615	5	ANO6	12	45816840	Missense_Mutation	SNP	A	TCGA-DX-A2IZ-01A-11D-A21Q-09		45816840	88035055	29	2235											
KIAA0748	9840	genome.wustl.edu	37	chr12	55354969	55354969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcacgagtctttgccaGcaaaagtctggtggtggtgg	13	8	3	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:55354969G>A	ENST00000449076.1	-	10	1682	c.1550C>T	c.(1549-1551)gCt>gTt	p.A517V	TESPA1_ENST00000532804.1_Missense_Mutation_p.A379V|TESPA1_ENST00000524622.1_Missense_Mutation_p.A379V|TESPA1_ENST00000531122.1_Missense_Mutation_p.A379V|TESPA1_ENST00000316577.8_Missense_Mutation_p.A517V|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	517					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GTCTTTGCCAGCAAAAGTCTG	0.507																																																	0								ENSG00000135426						140	166	157					12																	55354969		2184	4294	6478	TESPA1	SO:0001583	missense	0			-	HGNC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1550C>T	12.37:g.55354969G>A	ENSP00000400892:p.Ala517Val	Somatic	0	35	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	253	24.25	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	23	0	0	272	28.53	109	NULL	p.A517V	ENST00000449076.1	37	c.1550	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153851	0.38021	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.46819	0.86;0.86;0.87;0.87;0.86	4.15	2.33	0.28932	.	0.658638	0.13332	N	0.395823	T	0.32436	0.0829	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.27226	-1.0080	10	0.72032	D	0.01	4.3059	6.4127	0.21700	0.2178:0.0:0.7822:0.0	.	517	A2RU30	K0748_HUMAN	V	379;379;517;517;379	ENSP00000435622:A379V;ENSP00000432030:A379V;ENSP00000400892:A517V;ENSP00000312679:A517V;ENSP00000433098:A379V	ENSP00000312679:A517V	A	-	2	0	KIAA0748	53641236	0.003000	0.15002	0.001000	0.08648	0.015000	0.08874	0.700000	0.25601	0.724000	0.32296	0.650000	0.86243	GCT	-	NULL		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	protein_coding	OTTHUMT00000383822.1	G	NM_001098815	-		55354969	-1	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	SNP	0.001	A	A	55354969	G	A	55354969	3	1	35	1	0	0	0	0	1	0	0	0	8192	971	34	2	19	2	KIAA0748	12	55354969	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	9538129	55354969	78496926	30	2236											
PAN2	9924	genome.wustl.edu	37	chr12	56718437	56718437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatgccagacagaactcCttctggcaaaggtggttttg	10	10	2	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:56718437C>T	ENST00000425394.2	-	11	2032	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K	PAN2_ENST00000257931.5_Silent_p.K552K|PAN2_ENST00000548043.1_Silent_p.K552K|PAN2_ENST00000440411.3_Silent_p.K552K	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GACAGAACTCCTTCTGGCAAA	0.502																																																	0								ENSG00000135473						68	63	65					12																	56718437		2203	4300	6503	PAN2	SO:0001819	synonymous_variant	0			-	HGNC	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1656G>A	12.37:g.56718437C>T		Somatic	0	55	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	343	9.26		Silent	SNP	38	0	0	297	19.51	72	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67	p.K552	ENST00000425394.2	37	c.1656	CCDS44922.1	12																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.502	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	protein_coding	OTTHUMT00000409024.1	C	NM_014871	-		56718437	-1	no_errors	ENST00000425394	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56718437	C	T	56718437	2	4	35	1	0	0	0	0	0	0	0	1	11416	680	24	2		2	PAN2	12	56718437	Silent	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	1363468	56718437	77133458	31	2237											
LRP1	4035	genome.wustl.edu	37	chr12	57572170	57572170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatttactcagcccgttacGacggctctggccacatggag	10	14	2	0			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:57572170G>T	ENST00000243077.3	+	27	4856	c.4390G>T	c.(4390-4392)Gac>Tac	p.D1464Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1464					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCCGTTACGACGGCTCTGG	0.602																																																	0								ENSG00000123384						90	70	77					12																	57572170		2203	4300	6503	LRP1	SO:0001583	missense	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4390G>T	12.37:g.57572170G>T	ENSP00000243077:p.Asp1464Tyr	Somatic	0	53	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	112	230	32.75	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	27	0	0	221	32.63	108	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D1464Y	ENST00000243077.3	37	c.4390	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798233	0.90538	.	.	ENSG00000123384	ENST00000243077	D	0.92911	-3.13	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.96710	0.8926	M	0.90369	3.11	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.97404	0.9998	10	0.72032	D	0.01	.	16.7965	0.85603	0.0:0.0:1.0:0.0	.	1464	Q07954	LRP1_HUMAN	Y	1464	ENSP00000243077:D1464Y	ENSP00000243077:D1464Y	D	+	1	0	LRP1	55858437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	GAC	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	G	NM_002332	-		57572170	1	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57572170	G	T	57572170	3	4	35	1	0	0	0	0	1	0	0	0	8953	1058	37	3	4496	3	LRP1	12	57572170	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	853733	57572170	76279725	32	2238											
MBD6	114785	genome.wustl.edu	37	chr12	57918117	57918117	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaatgagagcagtggagcaGacagagctgggggccctgtg	18	8	0	3			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:57918117G>A	ENST00000355673.3	+	3	387	c.31G>A	c.(31-33)Gac>Aac	p.D11N	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Missense_Mutation_p.D11N	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	11	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGTGGAGCAGACAGAGCTGG	0.562																																																	0								ENSG00000166987						71	62	65					12																	57918117		2203	4300	6503	MBD6	SO:0001583	missense	0			-	HGNC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.31G>A	12.37:g.57918117G>A	ENSP00000347896:p.Asp11Asn	Somatic	0	56	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	116	524	18.12	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	25	0	0	436	16.25	85	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.D11N	ENST00000355673.3	37	c.31	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454907	0.63290	.	.	ENSG00000166987	ENST00000548887;ENST00000551351;ENST00000546805;ENST00000355673;ENST00000546632;ENST00000431731;ENST00000552255;ENST00000552659	.	.	.	3.89	3.89	0.44902	Methyl-CpG DNA binding (1);	0.000000	0.52532	D	0.000061	T	0.51007	0.1649	L	0.38175	1.15	0.39310	D	0.965057	P	0.41393	0.748	B	0.41723	0.365	T	0.62110	-0.6923	9	0.72032	D	0.01	-4.1778	15.1708	0.72872	0.0:0.0:1.0:0.0	.	11	Q96DN6	MBD6_HUMAN	N	11;11;11;11;11;11;11;6	.	ENSP00000347896:D11N	D	+	1	0	MBD6	56204384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.755000	0.62198	2.162000	0.67917	0.561000	0.74099	GAC	-	superfamily_DNA-bd_dom,pfscan_Methyl_CpG_DNA-bd		0.562	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	protein_coding	OTTHUMT00000407250.1	G		-		57918117	1	no_errors	ENST00000355673	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57918117	G	A	57918117	3	1	35	1	0	0	0	0	1	0	0	0	9350	942	33	2	33	2	MBD6	12	57918117	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	345947	57918117	75933778	33	2239											
CCT2	10576	genome.wustl.edu	37	chr12	69986852	69986852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggagaaagttgaacgtattCttaagcatggaataaattgc	10	4	1	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:69986852C>G	ENST00000299300.6	+	9	1035	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	CCT2_ENST00000543146.2_Missense_Mutation_p.L236V|CCT2_ENST00000544368.2_Missense_Mutation_p.L283V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	283					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGAACGTATTCTTAAGCATGG	0.323																																																	0								ENSG00000166226						95	97	96					12																	69986852		2203	4300	6503	CCT2	SO:0001583	missense	0			-	HGNC	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.847C>G	12.37:g.69986852C>G	ENSP00000299300:p.Leu283Val	Somatic	0	63	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	219	29	88.31	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	18	0	0	33	88.96	266	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.L283V	ENST00000299300.6	37	c.847	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	C	4.770	0.143100	0.09083	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.76448	-1.02;-1.02;-1.02	5.71	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	N	0.21617	0.685	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.21917	0.006;0.037	T	0.59316	-0.7477	9	.	.	.	-12.5866	15.6479	0.77068	0.0:0.9238:0.0:0.0762	.	283;283	F5GWF6;P78371	.;TCPB_HUMAN	V	283;283;236	ENSP00000299300:L283V;ENSP00000441847:L283V;ENSP00000445471:L236V	.	L	+	1	0	CCT2	68273119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.344000	0.59354	2.704000	0.92352	0.644000	0.83932	CTT	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_beta		0.323	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	protein_coding	OTTHUMT00000403818.1	C	NM_006431	-		69986852	1	no_errors	ENST00000299300	ensembl	human	known	74_37	missense	SNP	1.000	G	G	69986852	C	G	69986852	3	3	35	1	0	0	0	0	1	0	0	0	2955	913	32	4	881	4	CCT2	12	69986852	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	12068735	69986852	63865043	34	2240											
CEP290	80184	genome.wustl.edu	37	chr12	88505548	88505548	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgagctcctgtcttaattCttcatttcttccggtaagct	6	12	4	1			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:88505548C>T	ENST00000552810.1	-	21	2483	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E716K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	714					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						TGTCTTAATTCTTCATTTCTT	0.358																																																	0								ENSG00000198707						57	56	56					12																	88505548		1814	4071	5885	CEP290	SO:0001583	missense	0			-	HGNC	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.2140G>A	12.37:g.88505548C>T	ENSP00000448012:p.Glu714Lys	Somatic	0	81	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	368	41	89.98	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	38	0	0	26	94.00	407	NULL	p.E716K	ENST00000552810.1	37	c.2146	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.816379	0.96982	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	D;D	0.83506	-1.73;-1.73	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84554	0.0646	10	0.20519	T	0.43	.	20.0112	0.97449	0.0:1.0:0.0:0.0	.	714;714	Q05BJ6;O15078	.;CE290_HUMAN	K	714;716;714	ENSP00000448012:E714K;ENSP00000308021:E716K	ENSP00000308021:E716K	E	-	1	0	CEP290	87029679	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.312000	0.78968	2.728000	0.93425	0.580000	0.79431	GAA	-	NULL		0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	C	NM_025114	-		88505548	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88505548	C	T	88505548	3	4	35	1	0	0	0	0	1	0	0	0	3255	922	32	2	5435	2	CEP290	12	88505548	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	18518696	88505548	45346347	35	2241			1	20		2	2	55	C		7.849353e-05
CEP290	80184	genome.wustl.edu	37	chr12	88505602	88505602	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcaaatgcagactcgcatCaaagattccttctgcattct	5	11	4	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr12:88505602C>G	ENST00000552810.1	-	21	2429	c.2086G>C	c.(2086-2088)Gat>Cat	p.D696H	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.D698H	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	696					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						AGACTCGCATCAAAGATTCCT	0.343																																																	0								ENSG00000198707						42	39	40					12																	88505602		1797	4067	5864	CEP290	SO:0001583	missense	0			-	HGNC	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.2086G>C	12.37:g.88505602C>G	ENSP00000448012:p.Asp696His	Somatic	0	62	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	278	33	89.39	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	32	0	0	25	94.27	428	NULL	p.D698H	ENST00000552810.1	37	c.2092	CCDS55858.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.932039|3.932039	0.73442|0.73442	.|.	.|.	ENSG00000198707|ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998|ENST00000545139	T;T|.	0.78595|.	-1.19;-1.19|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.057564|.	0.64402|.	D|.	0.000001|.	T|.	0.74869|.	0.3773|.	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.80764|.	0.979;0.994|.	T|.	0.71520|.	-0.4568|.	10|.	0.44086|.	T|.	0.13|.	.|.	20.0112|20.0112	0.97449|0.97449	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	696;696|.	Q05BJ6;O15078|.	.;CE290_HUMAN|.	H|S	696;698;696|550	ENSP00000448012:D696H;ENSP00000308021:D698H|.	ENSP00000308021:D698H|.	D|X	-|-	1|2	0|2	CEP290|CEP290	87029733|87029733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.251000|7.251000	0.78297|0.78297	2.728000|2.728000	0.93425|0.93425	0.580000|0.580000	0.79431|0.79431	GAT|TGA	-	NULL		0.343	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	C	NM_025114	-		88505602	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	1.000	G	G	88505602	C	G	88505602	3	3	35	1	0	0	0	0	1	0	0	0	3255	826	29	4	5489	4	CEP290	12	88505602	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	54	88505602	45346293	36	2242			1	20		2	2	55	C		7.849353e-05
ARID4A	5926	genome.wustl.edu	37	chr14	58831291	58831291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatagaagctcatagtctTgaattgtcttcattagacaa	6	7	4	3			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr14:58831291T>C	ENST00000355431.3	+	20	2857	c.2484T>C	c.(2482-2484)ctT>ctC	p.L828L	ARID4A_ENST00000395168.3_Silent_p.L828L|ARID4A_ENST00000431317.2_Silent_p.L828L|ARID4A_ENST00000348476.3_Silent_p.L828L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	828					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCATAGTCTTGAATTGTCTT	0.333																																																	0								ENSG00000032219						37	41	40					14																	58831291		2190	4295	6485	ARID4A	SO:0001819	synonymous_variant	0			-	HGNC	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2484T>C	14.37:g.58831291T>C		Somatic	0	21	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q15991|Q15992|Q15993	Silent	SNP	33	0	0	59	0.00	0	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.L828	ENST00000355431.3	37	c.2484	CCDS9732.1	14																																																																																			-	NULL		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	protein_coding	OTTHUMT00000276927.2	T	NM_023001	-		58831291	1	no_errors	ENST00000355431	ensembl	human	known	74_37	silent	SNP	0.130	C	C	58831291	T	C	58831291	2	2	35	1	0	0	0	0	0	0	0	1	919	1799	63	5		5	ARID4A	14	58831291	Silent	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09		58831291	48518249	37	2243											
AK7	122481	genome.wustl.edu	37	chr14	96875257	96875257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacggtgatgacttgggcGcgctccaaagccctggaccc	13	14	0	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr14:96875257G>A	ENST00000267584.4	+	4	521	c.477G>A	c.(475-477)gcG>gcA	p.A159A	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	159					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGACTTGGGCGCGCTCCAAAG	0.473																																																	0								ENSG00000140057						84	81	82					14																	96875257		2203	4300	6503	AK7	SO:0001819	synonymous_variant	0			-	HGNC	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.477G>A	14.37:g.96875257G>A		Somatic	0	71	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	196	10.50	Q8IYP6	Silent	SNP	26	0	0	157	12.78	23	pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase	p.A159	ENST00000267584.4	37	c.477	CCDS9945.1	14																																																																																			-	NULL		0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	protein_coding	OTTHUMT00000413340.1	G		-		96875257	1	no_errors	ENST00000267584	ensembl	human	known	74_37	silent	SNP	0.372	A	A	96875257	G	A	96875257	2	1	35	1	0	0	0	0	0	0	0	1	444	1074	38	1		1	AK7	14	96875257	Silent	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	38043966	96875257	10474283	38	2244											
AK7	122481	genome.wustl.edu	37	chr14	96909100	96909100	+	Frame_Shift_Del	DEL	G	G	-													gcgagattcctgcattaccaGtttttggcgatggaacaaat							TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr14:96909100delG	ENST00000267584.4	+	7	768	c.724delG	c.(724-726)gttfs	p.V242fs		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	242					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGCATTACCAGTTTTTGGCGA	0.433																																																	0								ENSG00000140057						291	258	269					14																	96909100		2203	4300	6503	AK7	SO:0001589	frameshift_variant	0				HGNC	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.724delG	14.37:g.96909100delG	ENSP00000267584:p.Val242fs	Somatic	0	122	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	320	13.04	Q8IYP6	Frame_Shift_Del	DEL	30	0	0	159	11.67	21	pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase	p.V242fs	ENST00000267584.4	37	c.724	CCDS9945.1	14																																																																																			-	NULL		0.433	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	protein_coding	OTTHUMT00000413340.1	G				96909100	1	no_errors	ENST00000267584	ensembl	human	known	74_37	frame_shift_del	DEL	0.377	-	-	96909100	G	-	96909100	7	5	35	1	0	1	0	1	0	0	0	0	444	1029	36	0	750	0	AK7	14	96909100	Frame_Shift_Del	DEL	G	TCGA-DX-A2IZ-01A-11D-A21Q-09	33843	96909100	10440440	39	2245											
ATPBD4	89978	genome.wustl.edu	37	chr15	35746987	35746987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgatagtcagaaagtataGcacctactgatatcccctct	7	11	2	3			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr15:35746987G>T	ENST00000256538.4	-	4	373	c.347C>A	c.(346-348)gCt>gAt	p.A116D		NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	116					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										AGAAAGTATAGCACCTACTGA	0.308																																																	0								ENSG00000134146						70	75	73					15																	35746987		2201	4289	6490	DPH6	SO:0001583	missense	0			-	HGNC		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.347C>A	15.37:g.35746987G>T	ENSP00000256538:p.Ala116Asp	Somatic	0	11	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	2	83.33	B3KWG1|Q96HJ6	Missense_Mutation	SNP	44	0	0	10	75.00	30	pfam_DUF71_dom,tigrfam_DUF71_dom	p.A116D	ENST00000256538.4	37	c.347	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565797	0.86439	.	.	ENSG00000134146	ENST00000256538	T	0.30448	1.53	4.92	4.92	0.64577	Domain of unknown function DUF71, ATP-binding domain (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65479	-0.6158	10	0.33940	T	0.23	-16.3311	17.6498	0.88159	0.0:0.0:1.0:0.0	.	116	Q7L8W6	ATBD4_HUMAN	D	116	ENSP00000256538:A116D	ENSP00000256538:A116D	A	-	2	0	ATPBD4	33534279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.426000	0.90273	2.721000	0.93114	0.650000	0.86243	GCT	-	pfam_DUF71_dom,tigrfam_DUF71_dom		0.308	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH6	protein_coding	OTTHUMT00000251973.1	G	NM_080650	-		35746987	-1	no_errors	ENST00000256538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35746987	G	T	35746987	3	4	35	1	0	0	0	0	1	0	0	0	1202	971	34	3	480	3	ATPBD4	15	35746987	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		35746987	66784405	40	2246											
RASGRF1	5923	genome.wustl.edu	37	chr15	79292172	79292172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatggcaaaggcagaggCggccgacaaggcactgcggt	16	10	0	1	rs199661393		TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr15:79292172C>T	ENST00000419573.3	-	18	2981	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A887T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A119T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	903					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A903T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCAGAGGCGGCCGACAAG	0.562																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000058335	C	THR/ALA,THR/ALA,THR/ALA	0,4392		0,0,2196	140	114	123		2659,2707,355	2.4	0.3	15		123	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	58,58,58	0,2,6487	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	887/1258,903/1274,119/490	79292172	2,12976	2196	4293	6489	RASGRF1	SO:0001583	missense	0			-	HGNC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2707G>A	15.37:g.79292172C>T	ENSP00000405963:p.Ala903Thr	Somatic	0	78	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	90	29.13	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	25	0	0	47	30.88	21	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A903T	ENST00000419573.3	37	c.2707	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535203	0.45176	0.0	2.33E-4	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.64260	-0.09;-0.09	4.34	2.42	0.29668	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.35414	1.06	0.49798	D	0.999822	B;B;B;B	0.31655	0.023;0.225;0.095;0.334	B;B;B;B	0.21708	0.01;0.026;0.016;0.036	T	0.15838	-1.0423	10	0.26408	T	0.33	.	7.9873	0.30220	0.0:0.8104:0.0:0.1896	.	299;887;905;887	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	T	903;887;119	ENSP00000405963:A903T;ENSP00000378228:A119T	ENSP00000378224:A887T	A	-	1	0	RASGRF1	77079227	0.841000	0.29509	0.344000	0.25628	0.822000	0.46500	1.597000	0.36729	0.442000	0.26555	0.591000	0.81541	GCC	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	C	NM_002891	rs199661393		79292172	-1	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	SNP	0.971	T	T	79292172	C	T	79292172	3	4	35	1	0	0	0	0	1	0	0	0	13080	768	27	1	1158	1	RASGRF1	15	79292172	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	43545185	79292172	23239220	41	2247											
SPN	6693	genome.wustl.edu	37	chr16	29675786	29675786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagcactgtgcccttccGgaacccagatgagaactcac	9	15	1	2	rs181483014		TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr16:29675786G>A	ENST00000360121.3	+	2	829	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	SPN_ENST00000395389.2_Missense_Mutation_p.R246Q	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GTGCCCTTCCGGAACCCAGAT	0.612													g|||	1	0.000199681	8e-04	0	5008	,	,		18707	0		0	False		,,,				2504	0																0								ENSG00000197471						78	68	71					16																	29675786		2197	4300	6497	SPN	SO:0001583	missense	0			GMAF=0.0005	HGNC	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.737G>A	16.37:g.29675786G>A	ENSP00000353238:p.Arg246Gln	Somatic	0	107	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	51	42.05	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	38	0	0	18	48.57	17	NULL	p.R246Q	ENST00000360121.3	37	c.737	CCDS10650.1	16	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	8.329	0.826046	0.16749	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.79454	-1.27;-1.27;-1.27	4.93	-9.87	0.00470	.	.	.	.	.	T	0.52025	0.1709	L	0.29908	0.895	0.09310	N	1	B	0.22276	0.067	B	0.11329	0.006	T	0.31586	-0.9938	9	0.15066	T	0.55	.	1.0541	0.01586	0.2613:0.1221:0.3228:0.2939	.	246	P16150	LEUK_HUMAN	Q	246	ENSP00000378787:R246Q;ENSP00000412907:R246Q;ENSP00000353238:R246Q	ENSP00000353238:R246Q	R	+	2	0	SPN	29583287	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.308000	0.00518	-4.204000	0.00065	-1.407000	0.01130	CGG	-	NULL		0.612	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPN	protein_coding	OTTHUMT00000215001.2	G		rs181483014		29675786	1	no_errors	ENST00000360121	ensembl	human	known	74_37	missense	SNP	0.000	A	A	29675786	G	A	29675786	3	1	35	1	0	0	0	0	1	0	0	0	15080	1116	39	1	739	1	SPN	16	29675786	Missense_Mutation	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		29675786	60678967	42	2248											
RSPH6A	81492	genome.wustl.edu	37	chr19	46303816	46303816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagggtgccaggtgcaTgatttctgtggtggagaggc	18	7	1	2			TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr19:46303816T>C	ENST00000221538.3	-	5	1946	c.1804A>G	c.(1804-1806)Atg>Gtg	p.M602V	RSPH6A_ENST00000597055.1_Missense_Mutation_p.M602V|RSPH6A_ENST00000600188.1_Missense_Mutation_p.M338V	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	602	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCCAGGTGCATGATTTCTGTG	0.667																																																	0								ENSG00000104941						48	44	45					19																	46303816		2203	4299	6502	RSPH6A	SO:0001583	missense	0			-	HGNC	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1804A>G	19.37:g.46303816T>C	ENSP00000221538:p.Met602Val	Somatic	0	157	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	71	32.38	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	20	0	0	19	36.67	11	pfam_Radial_spoke	p.M602V	ENST00000221538.3	37	c.1804	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	T	5.076	0.199673	0.09652	.	.	ENSG00000104941	ENST00000221538	T	0.16597	2.33	5.03	-3.0	0.05480	.	1.045490	0.07323	N	0.877962	T	0.12475	0.0303	L	0.32530	0.975	0.09310	N	1	B	0.23490	0.086	B	0.21360	0.034	T	0.37174	-0.9717	10	0.29301	T	0.29	-9.9806	10.6191	0.45470	0.0:0.0813:0.6689:0.2497	.	602	Q9H0K4	RSH6A_HUMAN	V	602	ENSP00000221538:M602V	ENSP00000221538:M602V	M	-	1	0	RSPH6A	50995656	0.309000	0.24518	0.831000	0.32960	0.245000	0.25701	0.101000	0.15251	-0.400000	0.07656	-0.477000	0.04895	ATG	-	pfam_Radial_spoke		0.667	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	protein_coding	OTTHUMT00000461657.1	T		-		46303816	-1	no_errors	ENST00000221538	ensembl	human	known	74_37	missense	SNP	0.106	C	C	46303816	T	C	46303816	3	2	35	1	0	0	0	0	1	0	0	0	13715	1464	51	5	357	5	RSPH6A	19	46303816	Missense_Mutation	SNP	T	TCGA-DX-A2IZ-01A-11D-A21Q-09		46303816	12825167	43	2249											
PTPRH	5794	genome.wustl.edu	37	chr19	55715272	55715272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctggtgtctgttgtgtttCgagtctctgttctgccacca	10	11	4	0	rs199739996		TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr19:55715272C>T	ENST00000376350.3	-	5	786	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	255	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGTTGTGTTTCGAGTCTCTGT	0.552																																																	0								ENSG00000080031	C	,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	221	186	198		,764	-6.1	0	19		198	0,8600		0,0,4300	yes	intron,missense	PTPRH	NM_001161440.1,NM_002842.3	,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,255/1116	55715272	1,13005	2203	4300	6503	PTPRH	SO:0001583	missense	0			-	HGNC		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.764G>A	19.37:g.55715272C>T	ENSP00000365528:p.Arg255Gln	Somatic	0	116	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	43	38.57	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	19	0	0	23	43.90	18	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R255Q	ENST00000376350.3	37	c.764	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	8.674	0.903492	0.17760	2.27E-4	0.0	ENSG00000080031	ENST00000376350	T	0.56941	0.43	3.13	-6.11	0.02131	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.118370	0.07233	N	0.862827	T	0.27349	0.0671	L	0.31664	0.95	0.09310	N	0.999996	B;P	0.42584	0.248;0.784	B;B	0.34452	0.007;0.183	T	0.21008	-1.0258	10	0.13108	T	0.6	.	5.3374	0.15965	0.1417:0.4505:0.0:0.4079	.	77;255	Q9HD43-2;Q9HD43	.;PTPRH_HUMAN	Q	255	ENSP00000365528:R255Q	ENSP00000365528:R255Q	R	-	2	0	PTPRH	60407084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.410000	0.00480	-1.501000	0.01817	-0.192000	0.12808	CGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	protein_coding	OTTHUMT00000452649.1	C		rs199739996		55715272	-1	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55715272	C	T	55715272	3	4	35	1	0	0	0	0	1	0	0	0	12811	884	31	1	2647	1	PTPRH	19	55715272	Missense_Mutation	SNP	C	TCGA-DX-A2IZ-01A-11D-A21Q-09	9411456	55715272	3413711	44	2250											
ZHX3	23051	genome.wustl.edu	37	chr20	39833134	39833134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgtctggcttggccacGttccacacaaagctggcttc	10	12	1	1	rs113667928	byFrequency	TCGA-DX-A2IZ-01A-11D-A21Q-09	TCGA-DX-A2IZ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bb70b2-b6f8-4aa9-80ce-48829f9fec56	9dc2fa01-ef68-44ce-98d0-dddcb6ef4f46	g.chr20:39833134G>A	ENST00000309060.3	-	4	838	c.423C>T	c.(421-423)aaC>aaT	p.N141N	ZHX3_ENST00000540170.1_Silent_p.N141N|ZHX3_ENST00000559234.1_Silent_p.N141N|ZHX3_ENST00000544979.2_Silent_p.N141N|ZHX3_ENST00000558993.1_Silent_p.N141N|ZHX3_ENST00000560361.1_Silent_p.N141N|ZHX3_ENST00000432768.2_Silent_p.N141N|ZHX3_ENST00000557816.1_Silent_p.N141N			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	141					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCTTGGCCACGTTCCACACAA	0.567																																																	0								ENSG00000174306	G		1,4405	2.1+/-5.4	0,1,2202	96	90	92		423	1.4	1	20	dbSNP_132	92	0,8600		0,0,4300	no	coding-synonymous	ZHX3	NM_015035.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		141/957	39833134	1,13005	2203	4300	6503	ZHX3	SO:0001819	synonymous_variant	0			-	HGNC	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.423C>T	20.37:g.39833134G>A		Somatic	0	33	0		0.71824170120317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	32	0	0	12	64.71	22	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.N141	ENST00000309060.3	37	c.423	CCDS13315.1	20																																																																																			-	NULL		0.567	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	protein_coding	OTTHUMT00000079262.3	G	NM_015035	rs113667928		39833134	-1	no_errors	ENST00000309060	ensembl	human	known	74_37	silent	SNP	0.974	A	A	39833134	G	A	39833134	2	1	35	1	0	0	0	0	0	0	0	1	17684	1136	40	1		1	ZHX3	20	39833134	Silent	SNP	G	TCGA-DX-A2IZ-01A-11D-A21Q-09		39833134	23192386	45	2251											
FAM151A	338094	genome.wustl.edu	37	chr1	55077385	55077385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatcttccaccgacatgggGtccgaggcagcctgccacag	12	14	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:55077385G>C	ENST00000302250.2	-	6	994	c.834C>G	c.(832-834)gaC>gaG	p.D278E	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.D278E	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	278						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCGACATGGGGTCCGAGGCAG	0.597																																																	0								ENSG00000162391						103	93	96					1																	55077385		2203	4300	6503	FAM151A	SO:0001583	missense	0			-	HGNC	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.834C>G	1.37:g.55077385G>C	ENSP00000306888:p.Asp278Glu	Somatic	0	29	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	30	0	0	15	48.28	14	pfam_DUF2181	p.D278E	ENST00000302250.2	37	c.834	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742674	0.49151	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.20200	2.09;2.09	4.59	1.53	0.23141	.	0.130629	0.49916	N	0.000135	T	0.36991	0.0987	M	0.79693	2.465	0.47123	D	0.99932	D	0.71674	0.998	D	0.69654	0.965	T	0.20240	-1.0281	10	0.66056	D	0.02	-33.2705	0.8409	0.01149	0.2562:0.1699:0.3992:0.1746	.	278	Q8WW52	F151A_HUMAN	E	278	ENSP00000306888:D278E;ENSP00000360353:D278E	ENSP00000294370:D278E	D	-	3	2	FAM151A	54849973	0.999000	0.42202	0.534000	0.28014	0.390000	0.30446	0.473000	0.22132	0.215000	0.20761	0.655000	0.94253	GAC	-	pfam_DUF2181		0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	protein_coding	OTTHUMT00000027342.1	G	NM_176782	-		55077385	-1	no_errors	ENST00000302250	ensembl	human	known	74_37	missense	SNP	0.997	C	C	55077385	G	C	55077385	3	2	36	1	0	0	0	0	1	0	0	0	5460	1252	44	4	935	4	FAM151A	1	55077385	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		55077385	194173236	1	2252											
IL12RB2	3595	genome.wustl.edu	37	chr1	67804363	67804363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcacattgactacagtagaCaacagatttctcttttctgg	8	9	2	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:67804363C>A	ENST00000262345.1	+	8	1655	c.1015C>A	c.(1015-1017)Caa>Aaa	p.Q339K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Q339K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Q339K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q339K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	339	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTACAGTAGACAACAGATTTC	0.358																																																	0								ENSG00000081985						114	127	123					1																	67804363		2203	4300	6503	IL12RB2	SO:0001583	missense	0			-	HGNC	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1015C>A	1.37:g.67804363C>A	ENSP00000262345:p.Gln339Lys	Somatic	0	27	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	13	61.76	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	19	0	0	42	34.38	22	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q339K	ENST00000262345.1	37	c.1015	CCDS638.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.395374|3.395374	0.62066|0.62066	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.64|.	4.92|4.92	3.98|3.98	0.46160|0.46160	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.219874|.	0.47455|.	D|.	0.000226|.	T|T	0.51601|0.51601	0.1684|0.1684	L|L	0.55990|0.55990	1.75|1.75	0.42037|0.42037	D|D	0.991051|0.991051	B;P;B;P|.	0.44816|.	0.23;0.794;0.335;0.844|.	B;P;B;B|.	0.45610|.	0.082;0.487;0.19;0.386|.	T|T	0.52563|0.52563	-0.8559|-0.8559	10|5	0.24483|.	T|.	0.36|.	-9.8897|-9.8897	13.5931|13.5931	0.61971|0.61971	0.0:0.8422:0.1578:0.0|0.0:0.8422:0.1578:0.0	.|.	339;339;339;339|.	B4DGA4;F5H7L6;Q99665-2;Q99665|.	.;.;.;I12R2_HUMAN|.	K|K	339|206	ENSP00000262345:Q339K;ENSP00000360039:Q339K;ENSP00000445276:Q339K;ENSP00000442443:Q339K|.	ENSP00000262345:Q339K|.	Q|T	+|+	1|2	0|0	IL12RB2|IL12RB2	67576951|67576951	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	1.961000|1.961000	0.40432|0.40432	1.346000|1.346000	0.45694|0.45694	0.563000|0.563000	0.77884|0.77884	CAA|ACA	-	superfamily_Fibronectin_type3		0.358	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	protein_coding	OTTHUMT00000025202.2	C	NM_001559	-		67804363	1	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67804363	C	A	67804363	3	1	36	1	0	0	0	0	1	0	0	0	7629	479	17	3	1041	3	IL12RB2	1	67804363	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09	12726978	67804363	181446258	2	2253											
AMY2B	280	genome.wustl.edu	37	chr1	104116343	104116343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacaggtcagagattgtcGtctggttggtcttcttgatc	11	8	5	2	rs144281226	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:104116343G>A	ENST00000361355.4	+	6	1143	c.527G>A	c.(526-528)cGt>cAt	p.R176H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	176					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAGATTGTCGTCTGGTTGGT	0.363													.|||	2	0.000399361	8e-04	0	5008	,	,		18863	0.001		0	False		,,,				2504	0																0								ENSG00000240038	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	358	346	350		527	3.8	0.5	1	dbSNP_134	350	0,8600		0,0,4300	yes	missense	AMY2B	NM_020978.3	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	176/512	104116343	4,13002	2203	4300	6503	AMY2B	SO:0001583	missense	0			GMAF=0.0005	HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.527G>A	1.37:g.104116343G>A	ENSP00000354610:p.Arg176His	Somatic	0	209	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	167	32.11	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	66	0	0	69	33.96	36	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R176H	ENST00000361355.4	37	c.527	CCDS782.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.0	4.078899	0.76528	9.08E-4	0.0	ENSG00000240038	ENST00000361355	D	0.98329	-4.87	4.74	3.82	0.43975	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.173696	0.51477	D	0.000097	D	0.98485	0.9495	M	0.91717	3.235	0.53005	D	0.999968	D	0.64830	0.994	P	0.59595	0.86	D	0.98837	1.0753	10	0.87932	D	0	.	9.2267	0.37412	0.1668:0.0:0.8332:0.0	.	176	P19961	AMY2B_HUMAN	H	176	ENSP00000354610:R176H	ENSP00000354610:R176H	R	+	2	0	AMY2B	103917866	1.000000	0.71417	0.508000	0.27688	0.997000	0.91878	4.886000	0.63149	1.005000	0.39183	0.644000	0.83932	CGT	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	G	NM_020978	rs144281226		104116343	1	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	SNP	0.991	A	A	104116343	G	A	104116343	3	1	36	1	0	0	0	0	1	0	0	0	595	1145	40	1	541	1	AMY2B	1	104116343	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	36311980	104116343	145134278	3	2254											
SLAMF6	114836	genome.wustl.edu	37	chr1	160460928	160460928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgttaccttcgcaaagcttCtgggcagagacagagaagga	12	9	1	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:160460928C>G	ENST00000368057.3	-	3	693	c.633G>C	c.(631-633)caG>caC	p.Q211H	SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100H|SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q211H			Q96DU3	SLAF6_HUMAN	SLAM family member 6	211						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CGCAAAGCTTCTGGGCAGAGA	0.507																																																	0								ENSG00000162739						80	82	81					1																	160460928		2203	4300	6503	SLAMF6	SO:0001583	missense	0			-	HGNC	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.633G>C	1.37:g.160460928C>G	ENSP00000357036:p.Gln211His	Somatic	0	44	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	25	0	0	26	42.22	19	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Q211H	ENST00000368057.3	37	c.633	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	C	9.519	1.107888	0.20714	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.38560	1.13;1.13;1.13	4.37	2.29	0.28610	.	0.843244	0.10443	N	0.674062	T	0.46210	0.1381	M	0.82056	2.57	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.997	D;D;P;P;D;D	0.77004	0.979;0.989;0.872;0.872;0.957;0.922	T	0.19484	-1.0304	10	0.45353	T	0.12	-0.2907	5.18	0.15156	0.0:0.669:0.2029:0.1282	.	100;100;162;211;211;211	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	H	211;211;100	ENSP00000357038:Q211H;ENSP00000357036:Q211H;ENSP00000357034:Q100H	ENSP00000357034:Q100H	Q	-	3	2	SLAMF6	158727552	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.170000	0.16663	0.473000	0.27368	0.655000	0.94253	CAG	-	NULL		0.507	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	protein_coding	OTTHUMT00000059010.1	C	NM_052931	-		160460928	-1	no_errors	ENST00000368057	ensembl	human	known	74_37	missense	SNP	0.000	G	G	160460928	C	G	160460928	3	3	36	1	0	0	0	0	1	0	0	0	14376	912	32	4	389	4	SLAMF6	1	160460928	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09	56344585	160460928	88789693	4	2255											
DDR2	4921	genome.wustl.edu	37	chr1	162735847	162735847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctatggcacccacaAcctatggtatatgtgattcc	6	14	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:162735847A>G	ENST00000367922.3	+	11	1594	c.1156A>G	c.(1156-1158)Acc>Gcc	p.T386A	DDR2_ENST00000367921.3_Missense_Mutation_p.T386A	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	386					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)			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)	GGCACCCACAACCTATGGTAT	0.478																																					NSCLC(161;314 2006 8283 19651 23192)												0								ENSG00000162733						121	115	117					1																	162735847		2203	4300	6503	DDR2	SO:0001583	missense	0			-	HGNC	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.1156A>G	1.37:g.162735847A>G	ENSP00000356899:p.Thr386Ala	Somatic	0	27	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	22	45.00	Q7Z730	Missense_Mutation	SNP	24	0	0	29	48.21	27	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T386A	ENST00000367922.3	37	c.1156	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	A	9.986	1.229528	0.22542	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83335	-1.71;-1.71	5.48	5.48	0.80851	.	0.259607	0.37715	N	0.001971	T	0.57169	0.2035	L	0.33485	1.01	0.31297	N	0.68877	B	0.02656	0.0	B	0.04013	0.001	T	0.53301	-0.8458	9	0.06236	T	0.91	.	14.4299	0.67243	1.0:0.0:0.0:0.0	.	386	Q16832	DDR2_HUMAN	A	386	ENSP00000356899:T386A;ENSP00000356898:T386A	ENSP00000356898:T386A	T	+	1	0	DDR2	161002471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.857000	0.69525	2.081000	0.62600	0.533000	0.62120	ACC	-	NULL		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	A	NM_006182	-		162735847	1	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	SNP	1.000	G	G	162735847	A	G	162735847	3	3	36	1	0	0	0	0	1	0	0	0	4339	43	2	5	1186	5	DDR2	1	162735847	Missense_Mutation	SNP	A	TCGA-DX-A2J0-01A-11D-A21Q-09	2274919	162735847	86514774	5	2256											
CEP350	9857	genome.wustl.edu	37	chr1	179989287	179989287	+	Frame_Shift_Del	DEL	C	C	-													tatggcttcaaggccattaaCttttacacctcaaccatatg							TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:179989287delC	ENST00000367607.3	+	12	2796	c.2378delC	c.(2377-2379)actfs	p.T793fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378																																																	2	Substitution - Missense(2)	prostate(2)						ENSG00000135837						104	106	105					1																	179989287		2203	4300	6503	CEP350	SO:0001589	frameshift_variant	0				HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2378delC	1.37:g.179989287delC	ENSP00000356579:p.Thr793fs	Somatic	0	12	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	9	57.14	O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	36	0	0	6	80.65	25	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.T793fs	ENST00000367607.3	37	c.2378	CCDS1336.1	1																																																																																			-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	C	NM_014810			179989287	1	no_errors	ENST00000367607	ensembl	human	known	74_37	frame_shift_del	DEL	0.983	-	-	179989287	C	-	179989287	7	5	36	1	0	1	0	1	0	0	0	0	3256	565	20	0	2420	0	CEP350	1	179989287	Frame_Shift_Del	DEL	C	TCGA-DX-A2J0-01A-11D-A21Q-09	17253440	179989287	69261334	6	2257											
PTPN14	5784	genome.wustl.edu	37	chr1	214576257	214576257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttgggctaccttctGggtcagctcctccagaacag	11	12	3	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:214576257G>T	ENST00000366956.5	-	6	744	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q184K	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	184	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		GCTACCTTCTGGGTCAGCTCC	0.527																																					Colon(92;557 1424 24372 34121 40073)												0								ENSG00000152104						182	155	164					1																	214576257		2203	4300	6503	PTPN14	SO:0001583	missense	0			-	HGNC	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.550C>A	1.37:g.214576257G>T	ENSP00000355923:p.Gln184Lys	Somatic	0	64	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q5VSI0	Missense_Mutation	SNP	17	0	0	21	0.00	0	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.Q184K	ENST00000366956.5	37	c.550	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025294	0.54683	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.77620	-1.11;-1.11	5.06	5.06	0.68205	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.123875	0.56097	D	0.000036	T	0.63885	0.2549	N	0.13371	0.34	0.47994	D	0.999569	B	0.17465	0.022	B	0.17433	0.018	T	0.59059	-0.7525	10	0.15066	T	0.55	.	18.4059	0.90536	0.0:0.0:1.0:0.0	.	184	Q15678	PTN14_HUMAN	K	184	ENSP00000355923:Q184K;ENSP00000443330:Q184K	ENSP00000355923:Q184K	Q	-	1	0	PTPN14	212642880	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.605000	0.82844	2.336000	0.79503	0.655000	0.94253	CAG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	protein_coding	OTTHUMT00000089918.2	G	NM_005401	-		214576257	-1	no_errors	ENST00000366956	ensembl	human	known	74_37	missense	SNP	0.996	T	T	214576257	G	T	214576257	3	4	36	1	0	0	0	0	1	0	0	0	12789	1357	47	3	3069	3	PTPN14	1	214576257	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	34586970	214576257	34674364	7	2258											
C1orf101	257044	genome.wustl.edu	37	chr1	244780873	244780873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctattggaaaaccaggaGacttaaatcaaccatacgag	8	8	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:244780873G>C	ENST00000366534.4	+	20	2587	c.2533G>C	c.(2533-2535)Gac>Cac	p.D845H	C1orf101_ENST00000366533.4_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.D694H	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	845						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-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(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAAACCAGGAGACTTAAATCA	0.333																																																	0								ENSG00000179397						221	175	189					1																	244780873		692	1589	2281	C1orf101	SO:0001583	missense	0			-	HGNC	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2533G>C	1.37:g.244780873G>C	ENSP00000355492:p.Asp845His	Somatic	0	19	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	65	25.29	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	32	0	0	96	16.52	19	NULL	p.D694H	ENST00000366534.4	37	c.2080	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787643	0.49997	.	.	ENSG00000179397	ENST00000366534;ENST00000428042;ENST00000366531	T;T;T	0.27256	1.68;1.68;1.68	5.73	2.85	0.33270	.	0.276519	0.31177	N	0.008113	T	0.40171	0.1106	L	0.59436	1.845	0.27960	N	0.936827	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	T	0.11518	-1.0584	10	0.42905	T	0.14	.	6.6888	0.23160	0.3408:0.0:0.6592:0.0	.	765;845	B1AQM6;Q5SY80	.;CA101_HUMAN	H	845;765;694	ENSP00000355492:D845H;ENSP00000395796:D765H;ENSP00000355489:D694H	ENSP00000355489:D694H	D	+	1	0	C1orf101	242847496	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.402000	0.44521	0.780000	0.33566	0.655000	0.94253	GAC	-	NULL		0.333	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	protein_coding	OTTHUMT00000096701.1	G	NM_173807	-		244780873	1	no_errors	ENST00000366531	ensembl	human	known	74_37	missense	SNP	1.000	C	C	244780873	G	C	244780873	3	2	36	1	0	0	0	0	1	0	0	0	1978	942	33	4	2611	4	C1orf101	1	244780873	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	30204616	244780873	4469748	8	2259											
OR2T4	127074	genome.wustl.edu	37	chr1	248525251	248525251	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caggtcatgggtgtgaataaGatctcagcccctgagtgtgg	14	8	2	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:248525251G>C	ENST00000366475.1	+	1	369	c.369G>C	c.(367-369)aaG>aaC	p.K123N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GTGTGAATAAGATCTCAGCCC	0.488																																																	0								ENSG00000196944						266	205	226					1																	248525251		2203	4300	6503	OR2T4	SO:0001583	missense	0			-	HGNC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.369G>C	1.37:g.248525251G>C	ENSP00000355431:p.Lys123Asn	Somatic	0	118	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	68	16.05	Q6IEZ8	Missense_Mutation	SNP	32	0	0	17	37.93	11	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K123N	ENST00000366475.1	37	c.369	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.115997	0.08831	.	.	ENSG00000196944	ENST00000366475	T	0.00554	6.64	3.48	-3.82	0.04281	GPCR, rhodopsin-like superfamily (1);	0.798432	0.10927	N	0.618768	T	0.00271	0.0008	N	0.05487	-0.04	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.42068	-0.9473	10	0.42905	T	0.14	.	0.8541	0.01178	0.4337:0.1204:0.1775:0.2684	.	123	Q8NH00	OR2T4_HUMAN	N	123	ENSP00000355431:K123N	ENSP00000355431:K123N	K	+	3	2	OR2T4	246591874	0.000000	0.05858	0.007000	0.13788	0.494000	0.33585	-2.465000	0.00995	-0.320000	0.08640	0.485000	0.47835	AAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	protein_coding	OTTHUMT00000097349.2	G	NM_001004696	-		248525251	1	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	SNP	0.001	C	C	248525251	G	C	248525251	3	2	36	1	0	0	0	0	1	0	0	0	11029	933	33	4	371	4	OR2T4	1	248525251	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	3744378	248525251	725370	9	2260											
XIRP2	129446	genome.wustl.edu	37	chr2	168108282	168108282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccaacctatgaggaTgtcattgctggacatatttt	8	11	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr2:168108282T>C	ENST00000409195.1	+	9	10469	c.10380T>C	c.(10378-10380)gaT>gaC	p.D3460D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.D3460D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.D3238D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3285					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						CCTATGAGGATGTCATTGCTG	0.403																																																	0								ENSG00000163092						64	63	63					2																	168108282		1895	4125	6020	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	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.10380T>C	2.37:g.168108282T>C		Somatic	0	18	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	36	0	0	35	44.44	28	pfam_Actin-binding_Xin_repeat	p.D3460	ENST00000409195.1	37	c.10380	CCDS42769.1	2																																																																																			-	NULL		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	T	NM_152381	-		168108282	1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	1.000	C	C	168108282	T	C	168108282	2	2	36	1	0	0	0	0	0	0	0	1	17437	1461	51	5		5	XIRP2	2	168108282	Silent	SNP	T	TCGA-DX-A2J0-01A-11D-A21Q-09		168108282	75091091	10	2261											
CPZ	8532	genome.wustl.edu	37	chr4	8602867	8602867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccacctgcgtggacctgCagctcaggacctgcagtgat	12	14	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr4:8602867C>A	ENST00000360986.4	+	3	313	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	CPZ_ENST00000315782.6_Missense_Mutation_p.Q36K|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000429646.2_5'Flank	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	47	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTGGACCTGCAGCTCAGGAC	0.637																																																	0								ENSG00000109625						58	40	46					4																	8602867		2203	4300	6503	CPZ	SO:0001583	missense	0			-	HGNC	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.139C>A	4.37:g.8602867C>A	ENSP00000354255:p.Gln47Lys	Somatic	0	60	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.33	O00520|Q96MX2	Missense_Mutation	SNP	21	4.55	1	28	0.00	0	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.Q47K	ENST00000360986.4	37	c.139	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	C	4.718	0.133447	0.09032	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.74842	-0.88;-0.88	3.59	0.496	0.16896	Frizzled domain (5);	1.527380	0.03704	N	0.249147	T	0.63367	0.2505	L	0.46157	1.445	0.09310	N	0.999999	B;B	0.21821	0.049;0.061	B;B	0.21546	0.019;0.035	T	0.28202	-1.0051	10	0.13470	T	0.59	-8.789	2.3148	0.04196	0.3509:0.2079:0.3418:0.0994	.	36;47	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	47;36	ENSP00000354255:Q47K;ENSP00000315074:Q36K	ENSP00000315074:Q36K	Q	+	1	0	CPZ	8653767	0.003000	0.15002	0.909000	0.35828	0.942000	0.58702	0.169000	0.16641	0.178000	0.19917	0.561000	0.74099	CAG	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.637	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	protein_coding	OTTHUMT00000207001.4	C	NM_003652	-		8602867	1	no_errors	ENST00000360986	ensembl	human	known	74_37	missense	SNP	0.013	A	A	8602867	C	A	8602867	3	1	36	1	0	0	0	0	1	0	0	0	3841	711	25	3	149	3	CPZ	4	8602867	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09		8602867	182551409	11	2262											
GPRIN3	285513	genome.wustl.edu	37	chr4	90170621	90170621	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcaggtccacctacaggaGaggatgagtgactgaccacc	11	12	1	4			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr4:90170621G>A	ENST00000609438.1	-	2	1159	c.641C>T	c.(640-642)tCt>tTt	p.S214F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S214F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	214										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACCTACAGGAGAGGATGAGTG	0.507																																																	0								ENSG00000185477						63	61	62					4																	90170621		2203	4300	6503	GPRIN3	SO:0001583	missense	0			-	HGNC	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.641C>T	4.37:g.90170621G>A	ENSP00000476603:p.Ser214Phe	Somatic	0	54	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q8IVE4	Missense_Mutation	SNP	26	0	0	32	39.62	21	NULL	p.S214F	ENST00000609438.1	37	c.641	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539493	0.45176	.	.	ENSG00000185477	ENST00000333209	T	0.10960	2.82	5.15	2.39	0.29439	.	0.538685	0.14052	N	0.344654	T	0.10035	0.0246	N	0.24115	0.695	0.09310	N	1	D	0.53151	0.958	P	0.48627	0.584	T	0.19063	-1.0317	10	0.51188	T	0.08	-0.1805	7.4331	0.27139	0.1465:0.3058:0.5477:0.0	.	214	Q6ZVF9	GRIN3_HUMAN	F	214	ENSP00000328672:S214F	ENSP00000328672:S214F	S	-	2	0	GPRIN3	90389644	0.010000	0.17322	0.001000	0.08648	0.032000	0.12392	1.135000	0.31454	0.350000	0.24002	0.650000	0.86243	TCT	-	NULL		0.507	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	G	NM_198281	-		90170621	-1	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	SNP	0.001	A	A	90170621	G	A	90170621	3	1	36	1	0	0	0	0	1	0	0	0	6733	942	33	2	1693	2	GPRIN3	4	90170621	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	81567754	90170621	100983655	12	2263											
EMB	133418	genome.wustl.edu	37	chr5	49723998	49723998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcagtgatatgttatgaCtctccaaggaaaagttattt	8	6	2	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr5:49723998C>T	ENST00000303221.5	-	2	391	c.176G>A	c.(175-177)aGt>aAt	p.S59N	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.S59N|EMB_ENST00000514111.1_Missense_Mutation_p.S9N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	59					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TATGTTATGACTCTCCAAGGA	0.323																																																	0								ENSG00000170571						119	118	119					5																	49723998		2203	4300	6503	EMB	SO:0001583	missense	0			-	HGNC	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.176G>A	5.37:g.49723998C>T	ENSP00000302289:p.Ser59Asn	Somatic	0	38	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B7Z6S3|B7Z902	Missense_Mutation	SNP	55	0	0	73	0.00	0	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S59N	ENST00000303221.5	37	c.176	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440435	0.12104	.	.	ENSG00000170571	ENST00000303221;ENST00000508934;ENST00000514111	T;T;T	0.55760	0.82;0.5;0.88	4.43	-3.72	0.04411	.	1.552400	0.03756	N	0.257290	T	0.37679	0.1012	N	0.24115	0.695	0.09310	N	0.999994	B;B	0.33694	0.421;0.421	B;B	0.35470	0.203;0.203	T	0.25363	-1.0134	9	.	.	.	-0.4683	8.9905	0.36022	0.4631:0.195:0.3418:0.0	.	59;59	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	59;59;9	ENSP00000302289:S59N;ENSP00000425215:S59N;ENSP00000426404:S9N	.	S	-	2	0	EMB	49759755	0.035000	0.19736	0.285000	0.24819	0.105000	0.19272	-1.758000	0.01810	-0.801000	0.04427	-0.182000	0.12963	AGT	-	NULL		0.323	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	protein_coding	OTTHUMT00000253853.1	C	NM_198449	-		49723998	-1	no_errors	ENST00000303221	ensembl	human	known	74_37	missense	SNP	0.350	T	T	49723998	C	T	49723998	3	4	36	1	0	0	0	0	1	0	0	0	5087	565	20	2	839	2	EMB	5	49723998	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09		49723998	131191262	13	2264											
TBC1D9B	23061	genome.wustl.edu	37	chr5	179300189	179300189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgctgctgctcagcaagGcacggaggtgcgggatagga	16	10	1	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr5:179300189G>A	ENST00000356834.3	-	13	2283	c.2246C>T	c.(2245-2247)gCc>gTc	p.A749V	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.A749V|TBC1D9B_ENST00000519746.1_5'Flank|TBC1D9B_ENST00000444477.2_5'Flank	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	749						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCAGCAAGGCACGGAGGTG	0.572																																																	0								ENSG00000197226						71	67	69					5																	179300189		2203	4300	6503	TBC1D9B	SO:0001583	missense	0			-	HGNC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2246C>T	5.37:g.179300189G>A	ENSP00000349291:p.Ala749Val	Somatic	0	29	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	13	0	0	24	50.00	24	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.A749V	ENST00000356834.3	37	c.2246	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221234	0.79464	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.99	4.64	4.64	0.57946	Rab-GAP/TBC domain (1);	0.061244	0.64402	D	0.000004	T	0.19406	0.0466	M	0.69823	2.125	0.80722	D	1	P;P;B	0.41131	0.621;0.739;0.435	B;B;B	0.41988	0.205;0.372;0.157	T	0.03202	-1.1061	10	0.62326	D	0.03	-27.8531	17.8925	0.88877	0.0:0.0:1.0:0.0	.	749;749;749	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	V	749	ENSP00000349291:A749V;ENSP00000347375:A749V	ENSP00000347375:A749V	A	-	2	0	TBC1D9B	179232795	1.000000	0.71417	0.993000	0.49108	0.252000	0.25951	9.715000	0.98748	2.292000	0.77174	0.561000	0.74099	GCC	-	superfamily_Rab-GTPase-TBC_dom		0.572	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	protein_coding	OTTHUMT00000253501.3	G	NM_015043	-		179300189	-1	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179300189	G	A	179300189	3	1	36	1	0	0	0	0	1	0	0	0	15635	1203	42	2	1546	2	TBC1D9B	5	179300189	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	129576191	179300189	1615071	14	2265											
TDRD6	221400	genome.wustl.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																																	0								ENSG00000180113																																			TDRD6	SO:0001589	frameshift_variant	0				HGNC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs	Somatic	0	21	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	38	2.56	1	58	1.69	1	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.M1520fs	ENST00000316081.6	37	c.4549_4550	CCDS34470.1	6																																																																																			-	pfam_Tudor		0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	-	XM_166443			46660415	1	no_errors	ENST00000316081	ensembl	human	known	74_37	frame_shift_ins	INS	0.002:0.009	A	A	46660415	-	A	46660414	7	5	36	1	0	1	1	0	0	0	0	0	15741	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-DX-A2J0-01A-11D-A21Q-09		46660414	124454653	15	2266											
NKAIN2	154215	genome.wustl.edu	37	chr6	124979412	124979412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggatgtacggtgacGtcagtgacacctgccccaga	13	12	1	3	rs142736368	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr6:124979412G>A	ENST00000368417.1	+	4	414	c.354G>A	c.(352-354)acG>acA	p.T118T	NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000545433.1_Silent_p.T103T|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488													G|||	3	0.000599042	0.0015	0	5008	,	,		17532	0		0	False		,,,				2504	0.001																0								ENSG00000188580	G	,	7,4399	12.9+/-30.5	0,7,2196	164	139	147		354,	-6.1	1	6	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,intron	NKAIN2	NM_001040214.1,NM_153355.3	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	118/209,	124979412	7,12999	2203	4300	6503	NKAIN2	SO:0001819	synonymous_variant	0			-	HGNC	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.354G>A	6.37:g.124979412G>A		Somatic	0	37	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	Q8IYR4|Q8TF67	Silent	SNP	17	0	0	29	28.57	12	pfam_Na/K-Atpase_Interacting	p.T118	ENST00000368417.1	37	c.354	CCDS34526.1	6																																																																																			-	pfam_Na/K-Atpase_Interacting		0.488	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	protein_coding	OTTHUMT00000042057.1	G	NM_001040214	rs142736368		124979412	1	no_errors	ENST00000368417	ensembl	human	known	74_37	silent	SNP	0.436	A	A	124979412	G	A	124979412	2	1	36	1	0	0	0	0	0	0	0	1	10438	1132	40	1		1	NKAIN2	6	124979412	Silent	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	78318998	124979412	46135655	16	2267											
ABCA13	154664	genome.wustl.edu	37	chr7	48556449	48556449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcataaccattatgccccGgttgctagccatcatctcca	6	15	3	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:48556449G>A	ENST00000435803.1	+	52	13793	c.13769G>A	c.(13768-13770)cGg>cAg	p.R4590Q	ABCA13_ENST00000544596.1_Missense_Mutation_p.R320Q	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4590					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTATGCCCCGGTTGCTAGCC	0.453																																																	0								ENSG00000179869						171	169	170					7																	48556449		1949	4151	6100	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13769G>A	7.37:g.48556449G>A	ENSP00000411096:p.Arg4590Gln	Somatic	0	68	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	60	40.00	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	18	0	0	42	38.24	26	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4590Q	ENST00000435803.1	37	c.13769	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932587	0.73442	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87103	-2.0;-2.21;-2.17	5.35	4.47	0.54385	.	0.000000	0.45126	D	0.000395	D	0.91878	0.7429	M	0.75447	2.3	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.95;0.969;0.998	D	0.84538	0.0637	10	0.31617	T	0.26	.	11.4958	0.50408	0.083:0.0:0.917:0.0	.	320;2292;4590	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Q	4590;363;320	ENSP00000411096:R4590Q;ENSP00000391042:R363Q;ENSP00000442634:R320Q	ENSP00000391042:R363Q	R	+	2	0	ABCA13	48526995	0.756000	0.28383	0.391000	0.26233	0.958000	0.62258	4.222000	0.58580	1.242000	0.43836	0.655000	0.94253	CGG	-	NULL		0.453	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48556449	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.054	A	A	48556449	G	A	48556449	3	1	36	1	0	0	0	0	1	0	0	0	31	1116	39	1	13804	1	ABCA13	7	48556449	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		48556449	110582214	17	2268											
MLL5	55904	genome.wustl.edu	37	chr7	104745892	104745892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttttctctagcacttgGttaatgaatggttaagtgag	9	5	2	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:104745892G>T	ENST00000311117.3	+	18	2748	c.2203G>T	c.(2203-2205)Gtt>Ttt	p.V735F	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.V735F|KMT2E_ENST00000334877.4_Missense_Mutation_p.V735F|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	735					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTAGCACTTGGTTAATGAATG	0.343																																																	0								ENSG00000005483						54	56	55					7																	104745892		2203	4300	6503	KMT2E	SO:0001583	missense	0			-	HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2203G>T	7.37:g.104745892G>T	ENSP00000312379:p.Val735Phe	Somatic	0	28	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.30	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	53	0	0	63	0.00	0	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.V735F	ENST00000311117.3	37	c.2203	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728372	0.69074	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.95137	-3.62;-3.15;-3.62	6.04	6.04	0.98038	.	0.052524	0.85682	D	0.000000	D	0.95768	0.8623	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.55161	0.77	D	0.95576	0.8642	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	735	Q8IZD2	MLL5_HUMAN	F	735;735;735;655;735	ENSP00000312379:V735F;ENSP00000335599:V735F;ENSP00000257745:V735F	ENSP00000257745:V735F	V	+	1	0	MLL5	104533128	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.230000	0.95299	2.873000	0.98535	0.561000	0.74099	GTT	-	NULL		0.343	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	G		-		104745892	1	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104745892	G	T	104745892	3	4	36	1	0	0	0	0	1	0	0	0	9626	1261	44	3	2265	3	MLL5	7	104745892	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	56189443	104745892	54392771	18	2269											
ATXN7L1	222255	genome.wustl.edu	37	chr7	105278824	105278824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagtacagagttgggtggtCtggattttgcaggggatgca	17	4	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:105278824C>T	ENST00000419735.3	-	7	1223	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	ATXN7L1_ENST00000472910.1_5'UTR|ATXN7L1_ENST00000477775.1_Missense_Mutation_p.R269K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	393	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						GTTGGGTGGTCTGGATTTTGC	0.527																																																	0								ENSG00000146776						128	111	116					7																	105278824		692	1591	2283	ATXN7L1	SO:0001583	missense	0			-	HGNC	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.1178G>A	7.37:g.105278824C>T	ENSP00000410759:p.Arg393Lys	Somatic	0	40	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	24	0	0	26	10.34	3	pfam_SCA7_dom	p.R393K	ENST00000419735.3	37	c.1178	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250237	0.22880	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000472195	T;T;T	0.13657	2.59;2.57;2.58	5.38	4.5	0.54988	.	0.158931	0.43110	N	0.000616	T	0.11793	0.0287	N	0.04508	-0.205	0.80722	D	1	P;D;B	0.57257	0.932;0.979;0.0	P;P;B	0.60012	0.867;0.801;0.002	T	0.07443	-1.0772	10	0.02654	T	1	.	14.3076	0.66395	0.0:0.9282:0.0:0.0718	.	177;269;393	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	K	393;269;269	ENSP00000410759:R393K;ENSP00000418476:R269K;ENSP00000419566:R269K	ENSP00000410759:R393K	R	-	2	0	ATXN7L1	105066060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.679000	0.46909	1.405000	0.46838	0.655000	0.94253	AGA	-	NULL		0.527	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	protein_coding	OTTHUMT00000349037.2	C		-		105278824	-1	no_errors	ENST00000419735	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105278824	C	T	105278824	3	4	36	1	0	0	0	0	1	0	0	0	1216	913	32	2	1434	2	ATXN7L1	7	105278824	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09	532932	105278824	53859839	19	2270											
TEX15	56154	genome.wustl.edu	37	chr8	30694789	30694789	+	Frame_Shift_Del	DEL	T	T	-													tctgcattaggacttttgaaTttttgtcattctgttgttca							TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr8:30694789delT	ENST00000256246.2	-	3	7936	c.7862delA	c.(7861-7863)aatfs	p.N2621fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2621					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTTTTGAATTTTTGTCATT	0.378																																																	0								ENSG00000133863						98	99	99					8																	30694789		2203	4300	6503	TEX15	SO:0001589	frameshift_variant	0				HGNC	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7862delA	8.37:g.30694789delT	ENSP00000256246:p.Asn2621fs	Somatic	0	37	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67		Frame_Shift_Del	DEL	41	0	0	38	44.12	30	NULL	p.N2621fs	ENST00000256246.2	37	c.7862	CCDS6080.1	8																																																																																			-	NULL		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	T				30694789	-1	no_errors	ENST00000256246	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	30694789	T	-	30694789	7	5	36	1	0	1	0	1	0	0	0	0	15786	1493	52	0	515	0	TEX15	8	30694789	Frame_Shift_Del	DEL	T	TCGA-DX-A2J0-01A-11D-A21Q-09		30694789	115669233	20	2271											
ALG2	85365	genome.wustl.edu	37	chr9	101980657	101980657	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaggactctctcgtcAtaaccacctgccacgatcag	6	16	4	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr9:101980657A>T	ENST00000476832.1	-	2	871	c.810T>A	c.(808-810)taT>taA	p.Y270*	ALG2_ENST00000319033.6_Nonsense_Mutation_p.Y177*	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTCTCTCGTCATAACCACCTG	0.473																																																	0								ENSG00000119523						136	131	133					9																	101980657		2203	4300	6503	ALG2	SO:0001587	stop_gained	0			-	HGNC	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.810T>A	9.37:g.101980657A>T	ENSP00000417764:p.Tyr270*	Somatic	0	42	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Nonsense_Mutation	SNP	29	0	0	29	40.82	20	pfam_Glyco_trans_1	p.Y270*	ENST00000476832.1	37	c.810	CCDS6739.1	9	.	.	.	.	.	.	.	.	.	.	A	33	5.232009	0.95207	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	.	.	.	5.78	-1.06	0.10002	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4185	10.3129	0.43718	0.6259:0.0:0.3741:0.0	.	.	.	.	X	270;177	.	ENSP00000432675:Y177X	Y	-	3	2	ALG2	101020478	0.998000	0.40836	0.977000	0.42913	0.984000	0.73092	0.703000	0.25646	-0.112000	0.11979	0.533000	0.62120	TAT	-	pfam_Glyco_trans_1		0.473	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG2	protein_coding	OTTHUMT00000215080.1	A	NM_033087	-		101980657	-1	no_errors	ENST00000476832	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	101980657	A	T	101980657	4	4	36	1	0	0	0	0	0	1	0	0	519	224	8	5	444	5	ALG2	9	101980657	Nonsense_Mutation	SNP	A	TCGA-DX-A2J0-01A-11D-A21Q-09		101980657	39232774	21	2272											
NSUN6	221078	genome.wustl.edu	37	chr10	18874990	18874990	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgattttttctactttGttgaagattttatccagtgc	7	5	1	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:18874990G>C	ENST00000377304.4	-	8	1228	c.810C>G	c.(808-810)aaC>aaG	p.N270K		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	270							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTCTACTTTGTTGAAGATTT	0.328																																																	0								ENSG00000241058						66	62	63					10																	18874990		2203	4300	6503	NSUN6	SO:0001583	missense	0			-	HGNC	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.810C>G	10.37:g.18874990G>C	ENSP00000366519:p.Asn270Lys	Somatic	0	42	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	B0YJ54	Missense_Mutation	SNP	28	0	0	41	30.51	18	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.N270K	ENST00000377304.4	37	c.810	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	G	6.721	0.501686	0.12822	.	.	ENSG00000241058	ENST00000377304	T	0.20738	2.05	4.16	-1.7	0.08159	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.229196	0.41823	N	0.000801	T	0.06508	0.0167	N	0.10874	0.06	0.29867	N	0.827148	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.05959	T	0.93	.	4.3465	0.11134	0.2375:0.0:0.4911:0.2714	.	270	Q8TEA1	NSUN6_HUMAN	K	270	ENSP00000366519:N270K	ENSP00000366519:N270K	N	-	3	2	NSUN6	18914996	0.996000	0.38824	0.202000	0.23494	0.400000	0.30750	0.715000	0.25822	-0.304000	0.08843	0.313000	0.20887	AAC	-	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom		0.328	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	protein_coding	OTTHUMT00000047083.1	G	NM_182543	-		18874990	-1	no_errors	ENST00000377304	ensembl	human	known	74_37	missense	SNP	0.230	C	C	18874990	G	C	18874990	3	2	36	1	0	0	0	0	1	0	0	0	10684	1368	48	4	615	4	NSUN6	10	18874990	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		18874990	116659757	22	2273											
MBL2	4153	genome.wustl.edu	37	chr10	54530489	54530489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgacccagaaggccctGgatttcctggaggccccaac	12	14	0	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:54530489G>A	ENST00000373968.3	-	2	309	c.245C>T	c.(244-246)cCa>cTa	p.P82L		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	82	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AGAAGGCCCTGGATTTCCTGG	0.542																																																	0								ENSG00000165471						81	91	87					10																	54530489		2203	4300	6503	MBL2	SO:0001583	missense	0			-	HGNC	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.245C>T	10.37:g.54530489G>A	ENSP00000363079:p.Pro82Leu	Somatic	0	43	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	29	0	0	31	47.46	28	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P82L	ENST00000373968.3	37	c.245	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316427	0.40996	.	.	ENSG00000165471	ENST00000373968	D	0.93076	-3.16	4.79	3.86	0.44501	.	0.470345	0.20012	N	0.101085	D	0.92551	0.7634	M	0.76433	2.335	0.42711	D	0.993648	B	0.29136	0.234	B	0.31751	0.135	D	0.91653	0.5336	10	0.56958	D	0.05	-2.8772	12.6509	0.56761	0.0:0.0:0.8329:0.1671	.	82	P11226	MBL2_HUMAN	L	82	ENSP00000363079:P82L	ENSP00000363079:P82L	P	-	2	0	MBL2	54200495	0.996000	0.38824	0.640000	0.29408	0.002000	0.02628	1.355000	0.34068	1.268000	0.44264	0.655000	0.94253	CCA	-	pfam_Collagen		0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	protein_coding	OTTHUMT00000048115.1	G	NM_000242	-		54530489	-1	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	SNP	0.910	A	A	54530489	G	A	54530489	3	1	36	1	0	0	0	0	1	0	0	0	9352	1348	47	2	513	2	MBL2	10	54530489	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	35655499	54530489	81004258	23	2274											
GRID1	2894	genome.wustl.edu	37	chr10	87362184	87362184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcatggagggcatggtcGccgagctgctcagcggcagc	16	12	1	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:87362184G>A	ENST00000327946.7	-	16	2961	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.A530V|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	959					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						GGGCATGGTCGCCGAGCTGCT	0.657										Multiple Myeloma(13;0.14)																																							0								ENSG00000182771						60	63	62					10																	87362184		2203	4300	6503	GRID1	SO:0001583	missense	0			-	HGNC	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.2876C>T	10.37:g.87362184G>A	ENSP00000330148:p.Ala959Val	Somatic	0	24	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	38	37.70	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	15	0	0	11	47.83	11	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A959V	ENST00000327946.7	37	c.2876	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021888	0.75275	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14893	2.7;2.47	5.83	5.83	0.93111	.	0.145914	0.64402	D	0.000009	T	0.13586	0.0329	L	0.36672	1.1	0.58432	D	0.999995	P	0.43662	0.814	B	0.25140	0.058	T	0.03423	-1.1038	10	0.87932	D	0	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	959	Q9ULK0	GRID1_HUMAN	V	959;530	ENSP00000330148:A959V;ENSP00000444455:A530V	ENSP00000330148:A959V	A	-	2	0	GRID1	87352164	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCG	-	NULL		0.657	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	G	XM_043613	-		87362184	-1	no_errors	ENST00000327946	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87362184	G	A	87362184	3	1	36	1	0	0	0	0	1	0	0	0	6773	1087	38	1	157	1	GRID1	10	87362184	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	32831695	87362184	48172563	24	2275											
OR51I2	390064	genome.wustl.edu	37	chr11	5474866	5474866	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatcctgcaggctgtgCgagtggagcccagcctccat	13	13	0	1	rs145725236		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:5474866C>T	ENST00000341449.2	+	1	229	c.148C>T	c.(148-150)Cga>Tga	p.R50*	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	50					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.R50R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTGTGCGAGTGGAGCC	0.577													C|||	1	0.000199681	0	0	5008	,	,		20597	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)						ENSG00000187918	C	stop/ARG	0,4402		0,0,2201	105	91	96		148	-1.1	0.4	11	dbSNP_134	96	1,8593	1.2+/-3.3	0,1,4296	yes	stop-gained	OR51I2	NM_001004754.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		50/313	5474866	1,12995	2201	4297	6498	OR51I2	SO:0001587	stop_gained	0			GMAF=0.0005	HGNC	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.148C>T	11.37:g.5474866C>T	ENSP00000341987:p.Arg50*	Somatic	0	37	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	Q6IF81	Nonsense_Mutation	SNP	29	0	0	20	13.04	3	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R50*	ENST00000341449.2	37	c.148	CCDS31383.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.88	3.497586	0.64186	0.0	1.16E-4	ENSG00000187918	ENST00000341449	.	.	.	5.57	-1.13	0.09775	.	0.128046	0.35378	N	0.003252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	3.4086	0.07350	0.5319:0.2238:0.1057:0.1386	.	.	.	.	X	50	.	ENSP00000341987:R50X	R	+	1	2	OR51I2	5431442	0.000000	0.05858	0.383000	0.26132	0.586000	0.36452	-0.454000	0.06770	0.129000	0.18514	0.650000	0.86243	CGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I2	protein_coding	OTTHUMT00000143385.1	C	NM_001004754	rs145725236		5474866	1	no_errors	ENST00000341449	ensembl	human	known	74_37	nonsense	SNP	0.002	T	T	5474866	C	T	5474866	4	4	36	1	0	0	0	0	0	1	0	0	11103	760	27	1	150	1	OR51I2	11	5474866	Nonsense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09		5474866	129531650	25	2276											
NLRP14	338323	genome.wustl.edu	37	chr11	7092514	7092514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactatcataatgaagaagAtgtgtcttggtggtggtgtt	12	3	2	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:7092514A>G	ENST00000299481.4	+	12	3603	c.3257A>G	c.(3256-3258)gAt>gGt	p.D1086G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1086					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGAAGAAGATGTGTCTTGG	0.368																																																	0								ENSG00000158077						128	122	124					11																	7092514		2201	4296	6497	NLRP14	SO:0001583	missense	0			-	HGNC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.3257A>G	11.37:g.7092514A>G	ENSP00000299481:p.Asp1086Gly	Somatic	0	51	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	Q7RTR6	Missense_Mutation	SNP	42	0	0	16	60.00	24	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D1086G	ENST00000299481.4	37	c.3257	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	A	7.920	0.738472	0.15574	.	.	ENSG00000158077	ENST00000299481	T	0.72282	-0.64	3.78	2.65	0.31530	.	0.902828	0.09296	N	0.821610	T	0.61887	0.2383	L	0.46157	1.445	0.09310	N	0.999998	B	0.18013	0.025	B	0.18263	0.021	T	0.54589	-0.8271	10	0.59425	D	0.04	.	5.654	0.17633	0.8766:0.0:0.1234:0.0	.	1086	Q86W24	NAL14_HUMAN	G	1086	ENSP00000299481:D1086G	ENSP00000299481:D1086G	D	+	2	0	NLRP14	7049090	0.945000	0.32115	0.479000	0.27329	0.345000	0.29048	0.202000	0.17295	0.831000	0.34780	0.533000	0.62120	GAT	-	NULL		0.368	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	protein_coding	OTTHUMT00000384551.1	A	NM_176822	-		7092514	1	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	SNP	0.566	G	G	7092514	A	G	7092514	3	3	36	1	0	0	0	0	1	0	0	0	10478	333	12	5	3299	5	NLRP14	11	7092514	Missense_Mutation	SNP	A	TCGA-DX-A2J0-01A-11D-A21Q-09	1617648	7092514	127914002	26	2277											
LUZP2	338645	genome.wustl.edu	37	chr11	25071591	25071591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcttttaagcctcaacAaagtgcttctggaaacaatg	7	10	3	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:25071591A>G	ENST00000336930.6	+	10	839	c.773A>G	c.(772-774)cAa>cGa	p.Q258R	LUZP2_ENST00000533227.1_Missense_Mutation_p.Q172R			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	258						extracellular region (GO:0005576)				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						AAGCCTCAACAAAGTGCTTCT	0.348																																																	0								ENSG00000187398						82	82	82					11																	25071591		2203	4300	6503	LUZP2	SO:0001583	missense	0			-	HGNC	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.773A>G	11.37:g.25071591A>G	ENSP00000336817:p.Gln258Arg	Somatic	0	38	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	12	66.67	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	42	0	0	6	83.33	30	NULL	p.Q258R	ENST00000336930.6	37	c.773	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483158	0.26598	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.22945	1.93;1.93	5.24	2.66	0.31614	.	0.678056	0.14349	N	0.325214	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	B;B	0.25667	0.131;0.131	B;B	0.28232	0.087;0.087	T	0.30822	-0.9965	10	0.11485	T	0.65	-0.1629	9.5201	0.39129	0.6632:0.3368:0.0:0.0	.	172;258	E9PN53;Q86TE4	.;LUZP2_HUMAN	R	258;172	ENSP00000336817:Q258R;ENSP00000432952:Q172R	ENSP00000336817:Q258R	Q	+	2	0	LUZP2	25028167	0.049000	0.20398	0.001000	0.08648	0.319000	0.28217	1.339000	0.33885	0.876000	0.35872	0.528000	0.53228	CAA	-	NULL		0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	protein_coding	OTTHUMT00000387861.1	A	NM_001009909	-		25071591	1	no_errors	ENST00000336930	ensembl	human	known	74_37	missense	SNP	0.000	G	G	25071591	A	G	25071591	3	3	36	1	0	0	0	0	1	0	0	0	9089	130	5	5	811	5	LUZP2	11	25071591	Missense_Mutation	SNP	A	TCGA-DX-A2J0-01A-11D-A21Q-09	17979077	25071591	109934925	27	2278											
CPT1A	1374	genome.wustl.edu	37	chr11	68529106	68529106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcgaggcgatacataTgctgatgcttctcagacgcc	11	11	2	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:68529106T>A	ENST00000265641.5	-	16	2079	c.1925A>T	c.(1924-1926)cAt>cTt	p.H642L	CPT1A_ENST00000376618.2_Missense_Mutation_p.H642L|CPT1A_ENST00000540367.1_Missense_Mutation_p.H642L|CPT1A_ENST00000539743.1_Missense_Mutation_p.H642L|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	642					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGATACATATGCTGATGCTT	0.498																																																	0								ENSG00000110090						265	238	247					11																	68529106		2200	4294	6494	CPT1A	SO:0001583	missense	0			-	HGNC	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1925A>T	11.37:g.68529106T>A	ENSP00000265641:p.His642Leu	Somatic	0	44	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	14	70.83	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	19	0	0	5	70.59	12	pfam_Carn_acyl_trans	p.H642L	ENST00000265641.5	37	c.1925	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	T	4.464	0.086013	0.08583	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.65	-6.84	0.01687	.	0.520380	0.21372	N	0.075612	T	0.77922	0.4203	N	0.25890	0.77	0.24253	N	0.995316	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.57911	-0.7729	10	0.22706	T	0.39	.	16.4499	0.83976	0.3104:0.0:0.0:0.6896	.	642;642	P50416;P50416-2	CPT1A_HUMAN;.	L	642	ENSP00000439084:H642L;ENSP00000365803:H642L;ENSP00000265641:H642L;ENSP00000446108:H642L	ENSP00000265641:H642L	H	-	2	0	CPT1A	68285682	0.007000	0.16637	0.020000	0.16555	0.010000	0.07245	0.050000	0.14120	-0.580000	0.05944	-1.601000	0.00813	CAT	-	pfam_Carn_acyl_trans		0.498	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	protein_coding	OTTHUMT00000397457.2	T	NM_001876	-		68529106	-1	no_errors	ENST00000265641	ensembl	human	known	74_37	missense	SNP	0.004	A	A	68529106	T	A	68529106	3	1	36	1	0	0	0	0	1	0	0	0	3833	1464	51	5	452	5	CPT1A	11	68529106	Missense_Mutation	SNP	T	TCGA-DX-A2J0-01A-11D-A21Q-09	43457515	68529106	66477410	28	2279											
KRT1	3848	genome.wustl.edu	37	chr12	53072523	53072523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagtacctggttctgCtgctccaggaacctcaccta	9	13	2	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:53072523C>A	ENST00000252244.3	-	2	667	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	203	Coil 1A.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCTGGTTCTGCTGCTCCAGGA	0.453																																																	0								ENSG00000167768						57	53	54					12																	53072523		2203	4300	6503	KRT1	SO:0001583	missense	0			-	HGNC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.609G>T	12.37:g.53072523C>A	ENSP00000252244:p.Gln203His	Somatic	0	31	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	42	0	0	28	54.84	34	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.Q203H	ENST00000252244.3	37	c.609	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824267	0.71143	.	.	ENSG00000167768	ENST00000252244	T	0.77620	-1.11	4.69	2.82	0.32997	Filament (1);	.	.	.	.	D	0.92420	0.7594	H	0.99475	4.585	0.44579	D	0.997546	D	0.89917	1.0	D	0.97110	1.0	D	0.92287	0.5838	9	0.87932	D	0	.	10.3674	0.44033	0.0:0.8363:0.0:0.1637	.	203	P04264	K2C1_HUMAN	H	203	ENSP00000252244:Q203H	ENSP00000252244:Q203H	Q	-	3	2	KRT1	51358790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.734000	0.38166	0.497000	0.27926	0.579000	0.79373	CAG	-	pfam_IF		0.453	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	protein_coding	OTTHUMT00000405706.1	C	NM_006121	-		53072523	-1	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53072523	C	A	53072523	3	1	36	1	0	0	0	0	1	0	0	0	8449	796	28	3	1357	3	KRT1	12	53072523	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09		53072523	80779372	29	2280											
ITGA7	3679	genome.wustl.edu	37	chr12	56081767	56081767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcaccttccacaggagCagcaccagcagtgctagcac	9	16	1	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:56081767C>T	ENST00000555728.1	-	25	3331	c.3303G>A	c.(3301-3303)ctG>ctA	p.L1101L	ITGA7_ENST00000347027.6_Silent_p.L1051L|ITGA7_ENST00000257879.6_Silent_p.L1057L|ITGA7_ENST00000257880.7_Silent_p.L1101L|ITGA7_ENST00000553804.1_Silent_p.L1061L|ITGA7_ENST00000394230.2_Silent_p.L1061L|ITGA7_ENST00000394229.2_Silent_p.L1057L|ITGA7_ENST00000452168.2_Silent_p.L964L			Q13683	ITA7_HUMAN	integrin, alpha 7	1101					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCACAGGAGCAGCACCAGCA	0.592																																																	0								ENSG00000135424						104	106	105					12																	56081767		2203	4300	6503	ITGA7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3303G>A	12.37:g.56081767C>T		Somatic	0	36	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	18	0	0	14	50.00	15	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L1101	ENST00000555728.1	37	c.3303		12																																																																																			-	prints_Integrin_alpha		0.592	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	protein_coding	OTTHUMT00000410138.1	C	NM_002206	-		56081767	-1	no_errors	ENST00000555728	ensembl	human	known	74_37	silent	SNP	0.999	T	T	56081767	C	T	56081767	2	4	36	1	0	0	0	0	0	0	0	1	7883	697	25	2		2	ITGA7	12	56081767	Silent	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09	3009244	56081767	77770128	30	2281											
XPOT	11260	genome.wustl.edu	37	chr12	64823969	64823969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgttgactccactaatggaGaagtttaaaattctgttaga	8	6	1	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:64823969G>T	ENST00000332707.5	+	17	2407	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	626	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CACTAATGGAGAAGTTTAAAA	0.393																																																	0								ENSG00000184575						64	64	64					12																	64823969		2203	4300	6503	XPOT	SO:0001583	missense	0			-	HGNC	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1878G>T	12.37:g.64823969G>T	ENSP00000327821:p.Glu626Asp	Somatic	0	34	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	45.45	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	34	0	0	33	45.90	28	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E626D	ENST00000332707.5	37	c.1878	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995759	0.35226	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.30448	1.53;1.53	5.28	1.1	0.20463	Armadillo-like helical (1);Armadillo-type fold (1);	0.103063	0.64402	D	0.000004	T	0.15998	0.0385	N	0.17082	0.46	0.47862	D	0.999532	B	0.06786	0.001	B	0.01281	0.0	T	0.10177	-1.0641	9	.	.	.	.	10.3553	0.43960	0.4458:0.0:0.5542:0.0	.	626	O43592	XPOT_HUMAN	D	626;148	ENSP00000327821:E626D;ENSP00000444345:E148D	.	E	+	3	2	XPOT	63110236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.253000	0.21552	0.650000	0.86243	GAG	-	superfamily_ARM-type_fold		0.393	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	protein_coding	OTTHUMT00000401122.1	G	NM_007235	-		64823969	1	no_errors	ENST00000332707	ensembl	human	known	74_37	missense	SNP	0.996	T	T	64823969	G	T	64823969	3	4	36	1	0	0	0	0	1	0	0	0	17457	933	33	3	1940	3	XPOT	12	64823969	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	8742202	64823969	69027926	31	2282											
VPS33A	65082	genome.wustl.edu	37	chr12	122735534	122735534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagccggttctcacccgaGcgcattctcctttcccaaag	8	16	2	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:122735534G>T	ENST00000267199.4	-	5	708	c.596C>A	c.(595-597)gCt>gAt	p.A199D	RP11-512M8.5_ENST00000535844.1_Intron|VPS33A_ENST00000542310.1_5'Flank	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	199					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTCACCCGAGCGCATTCTCC	0.557																																																	0								ENSG00000139719						91	85	87					12																	122735534		2203	4300	6503	VPS33A	SO:0001583	missense	0			-	HGNC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"vacuolar protein sorting 33A (yeast)"			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.596C>A	12.37:g.122735534G>T	ENSP00000267199:p.Ala199Asp	Somatic	0	54	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q547V4|Q9H5Q0	Missense_Mutation	SNP	27	0	0	45	0.00	0	pfam_Sec1-like,superfamily_Sec1-like	p.A199D	ENST00000267199.4	37	c.596	CCDS9231.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.634282	0.96682	.	.	ENSG00000139719	ENST00000267199	T	0.81163	-1.46	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.91300	3.195	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.93004	0.6426	10	0.87932	D	0	-21.7182	20.4008	0.98991	0.0:0.0:1.0:0.0	.	199	Q96AX1	VP33A_HUMAN	D	199	ENSP00000267199:A199D	ENSP00000267199:A199D	A	-	2	0	VPS33A	121301487	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.709000	0.98729	2.826000	0.97356	0.655000	0.94253	GCT	-	pfam_Sec1-like,superfamily_Sec1-like		0.557	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	protein_coding	OTTHUMT00000401607.2	G		-		122735534	-1	no_errors	ENST00000267199	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122735534	G	T	122735534	3	4	36	1	0	0	0	0	1	0	0	0	17208	971	34	3	1230	3	VPS33A	12	122735534	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	57911565	122735534	11116361	32	2283											
FLT3	2322	genome.wustl.edu	37	chr13	28608485	28608485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttaaaacgacaatgaagaGgagacaaacaccaattgttg	10	6	0	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr13:28608485G>T	ENST00000241453.7	-	13	1738	c.1657C>A	c.(1657-1659)Ctc>Atc	p.L553I	FLT3_ENST00000537084.1_Missense_Mutation_p.L553I|FLT3_ENST00000380982.4_Missense_Mutation_p.L553I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	553					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)	ACAATGAAGAGGAGACAAACA	0.393			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0								ENSG00000122025						103	95	98					13																	28608485		2203	4300	6503	FLT3	SO:0001583	missense	0			-	HGNC	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.1657C>A	13.37:g.28608485G>T	ENSP00000241453:p.Leu553Ile	Somatic	0	35	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	36	0	0	24	0.00	0	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L553I	ENST00000241453.7	37	c.1657	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	7.963	0.747464	0.15710	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.80653	-1.33;-1.4;-1.12	5.83	5.83	0.93111	.	0.287636	0.30483	N	0.009528	T	0.75184	0.3815	L	0.43152	1.355	0.24994	N	0.991511	B;B	0.16802	0.019;0.011	B;B	0.14578	0.011;0.005	T	0.58346	-0.7652	10	0.19147	T	0.46	.	18.3013	0.90164	0.0:0.0:1.0:0.0	.	553;553	P36888-2;P36888	.;FLT3_HUMAN	I	553	ENSP00000241453:L553I;ENSP00000370369:L553I;ENSP00000438139:L553I	ENSP00000241453:L553I	L	-	1	0	FLT3	27506485	1.000000	0.71417	0.788000	0.31933	0.682000	0.39822	3.566000	0.53805	2.758000	0.94735	0.655000	0.94253	CTC	-	NULL		0.393	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	G		-		28608485	-1	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	SNP	0.599	T	T	28608485	G	T	28608485	3	4	36	1	0	0	0	0	1	0	0	0	5944	1000	35	3	1372	3	FLT3	13	28608485	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		28608485	86561393	33	2284											
MGA	23269	genome.wustl.edu	37	chr15	42058229	42058229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgacttatttatgatgccacGaattgttaatgtgacatcat	7	7	1	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr15:42058229G>T	ENST00000570161.1	+	23	7949	c.7949G>T	c.(7948-7950)cGa>cTa	p.R2650L	MGA_ENST00000566586.1_Missense_Mutation_p.R2441L|MGA_ENST00000389936.4_Missense_Mutation_p.R2611L|MGA_ENST00000219905.7_Missense_Mutation_p.R2650L|MGA_ENST00000545763.1_Missense_Mutation_p.R2441L			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)	p.R2699Q(1)		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)	ATGATGCCACGAATTGTTAAT	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000174197						88	82	84					15																	42058229		1838	4095	5933	MGA	SO:0001583	missense	0			-	HGNC	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.7949G>T	15.37:g.42058229G>T	ENSP00000457035:p.Arg2650Leu	Somatic	0	25	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	36	5.26	2	61	0.00	0	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.R2650L	ENST00000570161.1	37	c.7949	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728570	0.69074	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86097	-2.04;-2.06;-2.07	5.08	5.08	0.68730	.	1.089600	0.07268	N	0.868563	D	0.85682	0.5753	N	0.19112	0.55	0.26953	N	0.965981	D;D	0.65815	0.995;0.992	P;P	0.62382	0.901;0.799	T	0.75042	-0.3457	10	0.87932	D	0	.	9.2136	0.37333	0.1625:0.0:0.8375:0.0	.	2441;2650	F5H7K2;E7ENI0	.;.	L	2650;2611;2441	ENSP00000219905:R2650L;ENSP00000374586:R2611L;ENSP00000442467:R2441L	ENSP00000219905:R2650L	R	+	2	0	MGA	39845521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.563000	0.53784	2.793000	0.96121	0.655000	0.94253	CGA	-	NULL		0.363	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1	-		42058229	1	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42058229	G	T	42058229	3	4	36	1	0	0	0	0	1	0	0	0	9542	1058	37	3	8039	3	MGA	15	42058229	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		42058229	60473163	34	2285											
FHOD1	29109	genome.wustl.edu	37	chr16	67272337	67272337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagctcaggaccactggaGctatacagcttttctgcaaa	10	11	2	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr16:67272337G>T	ENST00000258201.4	-	4	634	c.387C>A	c.(385-387)agC>agA	p.S129R		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532																																																	0								ENSG00000135723						65	63	64					16																	67272337		2198	4300	6498	FHOD1	SO:0001583	missense	0			-	HGNC	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.387C>A	16.37:g.67272337G>T	ENSP00000258201:p.Ser129Arg	Somatic	0	19	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	26	0	0	37	0.00	0	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.S129R	ENST00000258201.4	37	c.387	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	6.087	0.384407	0.11524	.	.	ENSG00000135723	ENST00000258201	T	0.21031	2.03	5.02	-1.21	0.09524	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.230378	0.42053	D	0.000775	T	0.09379	0.0231	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14200	-1.0481	10	0.37606	T	0.19	.	6.0162	0.19605	0.3756:0.0:0.4967:0.1277	.	129	Q9Y613	FHOD1_HUMAN	R	129	ENSP00000258201:S129R	ENSP00000258201:S129R	S	-	3	2	FHOD1	65829838	1.000000	0.71417	0.913000	0.36048	0.062000	0.15995	2.333000	0.43912	-0.048000	0.13401	-0.794000	0.03295	AGC	-	superfamily_ARM-type_fold		0.532	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	protein_coding	OTTHUMT00000268844.2	G		-		67272337	-1	no_errors	ENST00000258201	ensembl	human	known	74_37	missense	SNP	0.996	T	T	67272337	G	T	67272337	3	4	36	1	0	0	0	0	1	0	0	0	5884	962	34	3	3183	3	FHOD1	16	67272337	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		67272337	23082416	35	2286											
SMG6	23293	genome.wustl.edu	37	chr17	2203218	2203218	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcggcggcggcgacatcCattatccgtcaggccagctc	12	15	1	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr17:2203218C>A	ENST00000263073.6	-	2	879	c.829G>T	c.(829-831)Gga>Tga	p.G277*	SMG6_ENST00000544865.1_Nonsense_Mutation_p.G246*	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	277	Interaction with telomeric DNA.				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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGCGACATCCATTATCCGTC	0.577																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						63	57	59					17																	2203218		2203	4300	6503	SMG6	SO:0001587	stop_gained	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.829G>T	17.37:g.2203218C>A	ENSP00000263073:p.Gly277*	Somatic	0	59	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	33	50.75	B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	22	0	0	10	56.52	13	pfam_EST1,smart_PIN_dom	p.G277*	ENST00000263073.6	37	c.829	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.316027	0.99135	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	0.266889	0.37178	N	0.002211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.7399	18.0448	0.89329	0.0:1.0:0.0:0.0	.	.	.	.	X	277;246	.	ENSP00000263073:G277X	G	-	1	0	SMG6	2149968	0.001000	0.12720	1.000000	0.80357	0.930000	0.56654	1.447000	0.35101	2.490000	0.84030	0.655000	0.94253	GGA	-	NULL		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	C		-		2203218	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	2203218	C	A	2203218	4	1	36	1	0	0	0	0	0	1	0	0	14805	603	21	3	3502	3	SMG6	17	2203218	Nonsense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09		2203218	78991992	36	2287											
ALOX12B	242	genome.wustl.edu	37	chr17	7980435	7980435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccgcatagcgtacccacGtcttggctagcagccagtcc	9	16	1	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr17:7980435G>A	ENST00000319144.4	-	9	1408	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	AC129492.6_ENST00000399413.3_5'Flank|ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	383	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		T -> M (in ARCI2). {ECO:0000269|PubMed:16116617}.		arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCGTACCCACGTCTTGGCTAG	0.597										Multiple Myeloma(8;0.094)																																							0			GRCh37	CM053750	ALOX12B	M		ENSG00000179477						48	39	42					17																	7980435		2203	4300	6503	ALOX12B	SO:0001583	missense	0			-	HGNC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1148C>T	17.37:g.7980435G>A	ENSP00000315167:p.Thr383Met	Somatic	0	41	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67		Missense_Mutation	SNP	23	0	0	16	54.29	19	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.T383M	ENST00000319144.4	37	c.1148	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693767	0.68386	.	.	ENSG00000179477	ENST00000319144	T	0.77229	-1.08	4.82	4.82	0.62117	Lipoxygenase, C-terminal (4);	0.241045	0.43919	D	0.000505	T	0.77519	0.4142	L	0.41236	1.265	0.38709	D	0.953184	D	0.56968	0.978	P	0.58077	0.832	T	0.78155	-0.2314	10	0.44086	T	0.13	-17.2144	7.8081	0.29215	0.1817:0.0:0.8183:0.0	.	383	O75342	LX12B_HUMAN	M	383	ENSP00000315167:T383M	ENSP00000315167:T383M	T	-	2	0	ALOX12B	7921160	0.973000	0.33851	0.998000	0.56505	0.939000	0.58152	2.087000	0.41653	2.393000	0.81446	0.313000	0.20887	ACG	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C		0.597	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	protein_coding	OTTHUMT00000226984.3	G		-		7980435	-1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	SNP	0.987	A	A	7980435	G	A	7980435	3	1	36	1	0	0	0	0	1	0	0	0	537	1145	40	1	985	1	ALOX12B	17	7980435	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	5777217	7980435	73214775	37	2288											
NDC80	10403	genome.wustl.edu	37	chr18	2577855	2577855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcattcagcagtgtattcGacaactctgtgaggtacttt	8	8	3	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr18:2577855G>T	ENST00000261597.4	+	4	472	c.290G>T	c.(289-291)cGa>cTa	p.R97L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	97	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTGTATTCGACAACTCTGT	0.363																																																	0								ENSG00000080986						96	95	95					18																	2577855		2203	4300	6503	NDC80	SO:0001583	missense	0			-	HGNC	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.290G>T	18.37:g.2577855G>T	ENSP00000261597:p.Arg97Leu	Somatic	0	38	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q6PJX2	Missense_Mutation	SNP	47	0	0	32	0.00	0	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.R97L	ENST00000261597.4	37	c.290	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188279	0.78789	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.45668	0.89	5.62	5.62	0.85841	.	0.111126	0.64402	D	0.000017	T	0.58921	0.2156	M	0.67700	2.07	0.46564	D	0.9991	D	0.76494	0.999	P	0.61940	0.896	T	0.59731	-0.7399	10	0.54805	T	0.06	-7.1828	13.371	0.60713	0.0807:0.0:0.9193:0.0	.	97	O14777	NDC80_HUMAN	L	97	ENSP00000261597:R97L	ENSP00000261597:R97L	R	+	2	0	NDC80	2567855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.551000	0.60740	2.648000	0.89879	0.650000	0.86243	CGA	-	pfam_Kinetochore_Ndc80		0.363	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	protein_coding	OTTHUMT00000254327.1	G	NM_006101	-		2577855	1	no_errors	ENST00000261597	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2577855	G	T	2577855	3	4	36	1	0	0	0	0	1	0	0	0	10244	1058	37	3	300	3	NDC80	18	2577855	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		2577855	75499393	38	2289											
TMEM59L	25789	genome.wustl.edu	37	chr19	18729058	18729058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaagagccacaggacaAtgacttcctcagttgcatgt	10	10	2	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:18729058A>G	ENST00000600490.1	+	7	943	c.758A>G	c.(757-759)aAt>aGt	p.N253S	TMEM59L_ENST00000262817.3_Missense_Mutation_p.N253S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	253						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCACAGGACAATGACTTCCTC	0.637																																																	0								ENSG00000105696						69	50	57					19																	18729058		2203	4300	6503	TMEM59L	SO:0001583	missense	0			-	HGNC	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.758A>G	19.37:g.18729058A>G	ENSP00000470879:p.Asn253Ser	Somatic	0	33	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68		Missense_Mutation	SNP	15	0	0	17	39.29	11	pfam_Uncharacterised_TMEM59	p.N253S	ENST00000600490.1	37	c.758	CCDS12383.1	19	.	.	.	.	.	.	.	.	.	.	A	6.902	0.535909	0.13188	.	.	ENSG00000105696	ENST00000262817	T	0.39406	1.08	4.35	0.0668	0.14363	.	0.446028	0.24472	N	0.038223	T	0.10035	0.0246	N	0.00707	-1.245	0.23550	N	0.997436	B	0.09022	0.002	B	0.10450	0.005	T	0.29671	-1.0004	10	0.14656	T	0.56	-4.8454	3.8407	0.08912	0.5542:0.1824:0.2633:0.0	.	253	Q9UK28	TM59L_HUMAN	S	253	ENSP00000262817:N253S	ENSP00000262817:N253S	N	+	2	0	TMEM59L	18590058	0.054000	0.20591	0.700000	0.30305	0.761000	0.43186	1.772000	0.38552	0.078000	0.16900	-0.441000	0.05720	AAT	-	pfam_Uncharacterised_TMEM59		0.637	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	protein_coding	OTTHUMT00000465143.2	A		-		18729058	1	no_errors	ENST00000262817	ensembl	human	known	74_37	missense	SNP	0.870	G	G	18729058	A	G	18729058	3	3	36	1	0	0	0	0	1	0	0	0	16193	101	4	5	780	5	TMEM59L	19	18729058	Missense_Mutation	SNP	A	TCGA-DX-A2J0-01A-11D-A21Q-09		18729058	40399925	39	2290											
FUT1	2523	genome.wustl.edu	37	chr19	49253926	49253926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcggtcccctgtgcggcCcaggcggagctgacccagca	16	16	0	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:49253926C>T	ENST00000310160.3	-	4	1587	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	205					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CCTGTGCGGCCCAGGCGGAGC	0.652																																																	0								ENSG00000174951						80	83	82					19																	49253926		2201	4298	6499	FUT1	SO:0001583	missense	0			-	HGNC		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.613G>A	19.37:g.49253926C>T	ENSP00000312021:p.Gly205Ser	Somatic	0	14	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73	O14505|O14506|O14507	Missense_Mutation	SNP	20	0	0	3	88.46	23	pfam_Glyco_trans_11	p.G205S	ENST00000310160.3	37	c.613	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731693	0.15507	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96396	-4.0	4.54	-2.39	0.06602	.	0.819662	0.10706	N	0.643486	D	0.92001	0.7466	L	0.60455	1.87	0.09310	N	1	B	0.31655	0.334	B	0.32677	0.15	T	0.83109	-0.0124	10	0.28530	T	0.3	-19.2084	1.6033	0.02679	0.1401:0.2384:0.386:0.2355	.	205	P19526	FUT1_HUMAN	S	205;195	ENSP00000312021:G205S	ENSP00000312021:G205S	G	-	1	0	FUT1	53945738	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.118000	0.15605	-0.083000	0.12618	0.563000	0.77884	GGC	-	pfam_Glyco_trans_11		0.652	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	protein_coding	OTTHUMT00000466194.1	C	NM_000148	-		49253926	-1	no_errors	ENST00000310160	ensembl	human	known	74_37	missense	SNP	0.000	T	T	49253926	C	T	49253926	3	4	36	1	0	0	0	0	1	0	0	0	6103	623	22	2	488	2	FUT1	19	49253926	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09	30524868	49253926	9875057	40	2291											
KLK5	25818	genome.wustl.edu	37	chr19	51452260	51452260	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatgaggttgttagagtgGccagggtgggagtagccagg	19	5	0	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:51452260G>T	ENST00000336334.3	-	4	799	c.447C>A	c.(445-447)ggC>ggA	p.G149G	CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.G149G|KLK5_ENST00000593428.1_Silent_p.G149G	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTTAGAGTGGCCAGGGTGGG	0.532																																																	0								ENSG00000167754						91	94	93					19																	51452260		2203	4300	6503	KLK5	SO:0001819	synonymous_variant	0			-	HGNC	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.447C>A	19.37:g.51452260G>T		Somatic	0	24	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q53ZR3|Q9HBG8	Silent	SNP	16	0	0	26	0.00	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G149	ENST00000336334.3	37	c.447	CCDS12810.1	19																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.532	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	protein_coding	OTTHUMT00000465057.1	G	NM_012427	-		51452260	-1	no_errors	ENST00000336334	ensembl	human	known	74_37	silent	SNP	0.601	T	T	51452260	G	T	51452260	2	4	36	1	0	0	0	0	0	0	0	1	8409	1190	42	3		3	KLK5	19	51452260	Silent	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	2198334	51452260	7676723	41	2292											
ZNF761	388561	genome.wustl.edu	37	chr19	53959188	53959188	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtgacaaagctttccGtttcaaatcaaaccttgaaa	6	8	2	3			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423																																																	0								ENSG00000160336						75	80	78					19																	53959188		2203	4300	6503	ZNF761			0			-	HGNC	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959188G>A		Somatic	0	34	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	18	73.13	Q6ZNB9	RNA	SNP	29	0	0	7	80.56	29	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			-	-		0.423	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	processed_transcript		G	NM_001008401	rs144532705		53959188	1	no_errors	ENST00000334095	ensembl	human	known	74_37	rna	SNP	0.000	A	A	53959188	G	A	53959188	1	1	36	0	1	0	0	0	0	0	0	0	18143	1145	40	1		1	ZNF761	19	53959188	RNA	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	2506928	53959188	5169795	42	2293											
ADAM33	80332	genome.wustl.edu	37	chr20	3652874	3652874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagggtgagccgtccaGtaggtaaacgtctgggggac	17	9	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr20:3652874G>C	ENST00000356518.2	-	14	1745	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	ADAM33_ENST00000350009.2_Missense_Mutation_p.L502V|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.L502V	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	502	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GAGCCGTCCAGTAGGTAAACG	0.662																																																	0								ENSG00000149451						64	63	64					20																	3652874		2203	4300	6503	ADAM33	SO:0001583	missense	0			-	HGNC	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1504C>G	20.37:g.3652874G>C	ENSP00000348912:p.Leu502Val	Somatic	0	41	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	12	0	0	26	44.68	21	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L502V	ENST00000356518.2	37	c.1504	CCDS13058.1	20	.	.	.	.	.	.	.	.	.	.	g	16.34	3.094967	0.56075	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.01495	4.83;4.83;4.87	4.54	3.59	0.41128	ADAM, cysteine-rich (1);Blood coagulation inhibitor, Disintegrin (2);	.	.	.	.	T	0.04182	0.0116	L	0.31294	0.92	0.48087	D	0.999584	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.974;0.974	T	0.62553	-0.6830	9	0.15499	T	0.54	.	11.5115	0.50496	0.0888:0.0:0.9112:0.0	.	502;502;502	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	V	502;502;502;382	ENSP00000348912:L502V;ENSP00000369190:L502V;ENSP00000322550:L502V	ENSP00000322550:L502V	L	-	1	2	ADAM33	3600874	0.991000	0.36638	0.822000	0.32727	0.681000	0.39784	2.128000	0.42045	1.132000	0.42129	0.457000	0.33378	CTG	-	superfamily_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin		0.662	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	protein_coding	OTTHUMT00000077763.2	G	NM_025220	-		3652874	-1	no_errors	ENST00000356518	ensembl	human	known	74_37	missense	SNP	0.998	C	C	3652874	G	C	3652874	3	2	36	1	0	0	0	0	1	0	0	0	250	1020	36	4	973	4	ADAM33	20	3652874	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		3652874	59372646	43	2294											
DHX35	60625	genome.wustl.edu	37	chr20	37631425	37631425	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcttttcagtcctgttccaGattatatcaaatcaactgtc	5	10	4	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr20:37631425G>T	ENST00000252011.3	+	10	799	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	DHX35_ENST00000373325.2_Missense_Mutation_p.D256Y|DHX35_ENST00000373323.4_Missense_Mutation_p.D225Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	256					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCTGTTCCAGATTATATCAA	0.393																																																	0								ENSG00000101452						113	98	103					20																	37631425		2203	4300	6503	DHX35	SO:0001583	missense	0			-	HGNC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.766G>T	20.37:g.37631425G>T	ENSP00000252011:p.Asp256Tyr	Somatic	0	29	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	41	0	0	60	0.00	0	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D256Y	ENST00000252011.3	37	c.766	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683201	0.88542	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.58	5.58	0.84498	.	0.041315	0.85682	D	0.000000	T	0.35770	0.0943	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.973	T	0.59674	-0.7410	10	0.87932	D	0	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	225;256	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	Y	256;256;225;221	ENSP00000362422:D256Y;ENSP00000252011:D256Y;ENSP00000362420:D225Y;ENSP00000414630:D221Y	ENSP00000252011:D256Y	D	+	1	0	DHX35	37064839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.071000	0.93980	2.797000	0.96272	0.561000	0.74099	GAT	-	superfamily_P-loop_NTPase		0.393	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	protein_coding	OTTHUMT00000079212.2	G	NM_021931	-		37631425	1	no_errors	ENST00000252011	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37631425	G	T	37631425	3	4	36	1	0	0	0	0	1	0	0	0	4510	942	33	3	804	3	DHX35	20	37631425	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	33978551	37631425	25394095	44	2295											
BRWD1	54014	genome.wustl.edu	37	chr21	40668281	40668281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcccttccaaactgtgtGcctgcagtctttaaaatgaa	8	10	1	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr21:40668281G>T	ENST00000333229.2	-	6	685	c.358C>A	c.(358-360)Cac>Aac	p.H120N	BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Missense_Mutation_p.H120N|BRWD1_ENST00000342449.3_Missense_Mutation_p.H120N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAAACTGTGTGCCTGCAGTCT	0.368																																					Melanoma(170;988 1986 4794 16843 39731)												0								ENSG00000185658						87	89	88					21																	40668281		2203	4300	6503	BRWD1	SO:0001583	missense	0			-	HGNC	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.358C>A	21.37:g.40668281G>T	ENSP00000330753:p.His120Asn	Somatic	0	26	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	31	0	0	31	0.00	0	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.H120N	ENST00000333229.2	37	c.358	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193466	0.22037	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16324	2.35;2.35;2.35	5.94	4.07	0.47477	.	0.133086	0.50627	D	0.000111	T	0.08403	0.0209	N	0.11927	0.2	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.23013	-1.0200	10	0.12103	T	0.63	-7.5662	10.1267	0.42654	0.0:0.1133:0.6338:0.2529	.	120;120	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	120	ENSP00000330753:H120N;ENSP00000344333:H120N;ENSP00000370178:H120N	ENSP00000330753:H120N	H	-	1	0	BRWD1	39590151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.467000	0.35321	2.820000	0.97059	0.650000	0.86243	CAC	-	NULL		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	protein_coding	OTTHUMT00000141398.3	G	NM_033656	-		40668281	-1	no_errors	ENST00000333229	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40668281	G	T	40668281	3	4	36	1	0	0	0	0	1	0	0	0	1527	1319	46	3	6991	3	BRWD1	21	40668281	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		40668281	7461614	45	2296											
SH3BGR	6450	genome.wustl.edu	37	chr21	40883671	40883672	+	In_Frame_Ins	INS	-	-	AGA													gaggaagaaactgcagaaggINSagaagagcctggagaagacg					rs111921581|rs397694871|rs3831201|rs77389080	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr21:40883671_40883672insAGA	ENST00000333634.4	+	6	767_768	c.689_690insAGA	c.(688-693)ggagaa>ggAGAagaa	p.232_233insE	SH3BGR_ENST00000380631.1_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000458295.1_In_Frame_Ins_p.90_91insE|SH3BGR_ENST00000380637.3_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000380634.1_In_Frame_Ins_p.121_122insE	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	232	Glu-rich (acidic).			E -> EE (in Ref. 4; BM474020). {ECO:0000305}.	positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ACTGCAGAAGGAGAAGAGCCTG	0.46																																																	0								ENSG00000185437		,	2200,2064		562,1076,494					,	-5.7	0		dbSNP_131	112	4701,3553		1343,2015,769	no	coding,coding	SH3BGR	NM_007341.2,NM_001001713.1	,	1905,3091,1263	A1A1,A1R,RR		43.0458,48.4053,44.8714	,	,		6901,5617				SH3BGR	SO:0001652	inframe_insertion	0				HGNC		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.693_695dupAGA	21.37:g.40883675_40883677dupAGA	ENSP00000332513:p.Glu232_Glu232dup	Somatic	0	41	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	A6ND59|D3DSI2|Q9BRB8	In_Frame_Ins	INS	27	0	0	32	0.00	0	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.233in_frame_insE	ENST00000333634.4	37	c.689_690	CCDS13666.1	21																																																																																			-	NULL		0.46	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	protein_coding	OTTHUMT00000157377.6	-	NM_007341			40883672	1	no_errors	ENST00000333634	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.002	AGA	AGA	40883672	-	AGA	40883671	7	5	36	1	0	1	1	0	0	0	0	0	14248	1174	41	0	711	0	SH3BGR	21	40883671	In_Frame_Ins	INS	-	TCGA-DX-A2J0-01A-11D-A21Q-09	215390	40883671	7246224	46	2297											
TRIOBP	11078	genome.wustl.edu	37	chr22	38131066	38131066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggagagggggtctggGcccgtgtccccagcctggac	16	14	1	1			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr22:38131066G>A	ENST00000406386.3	+	9	4978	c.4723G>A	c.(4723-4725)Gcc>Acc	p.A1575T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1575					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGGGTCTGGGCCCGTGTCCC	0.687											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100106						36	42	41					22																	38131066		1931	4105	6036	TRIOBP	SO:0001583	missense	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4723G>A	22.37:g.38131066G>A	ENSP00000384312:p.Ala1575Thr	Somatic	0	35	0	875	0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	20	0	0	16	48.39	15	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1575T	ENST00000406386.3	37	c.4723	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	7.798	0.713036	0.15306	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21031	2.03	5.11	1.77	0.24775	.	.	.	.	.	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	0.999993	B	0.17038	0.02	B	0.12156	0.007	T	0.40887	-0.9539	9	0.11182	T	0.66	.	4.4646	0.11682	0.2158:0.1841:0.6001:0.0	.	1575	Q9H2D6	TARA_HUMAN	T	1575;1536	ENSP00000384312:A1575T	ENSP00000384312:A1575T	A	+	1	0	TRIOBP	36461012	0.424000	0.25490	0.247000	0.24249	0.211000	0.24417	0.692000	0.25482	0.139000	0.18822	0.563000	0.77884	GCC	-	NULL		0.687	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G		-		38131066	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	SNP	0.040	A	A	38131066	G	A	38131066	3	1	36	1	0	0	0	0	1	0	0	0	16560	1203	42	2	4749	2	TRIOBP	22	38131066	Missense_Mutation	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09		38131066	13173500	47	2298											
RNF113A	7737	genome.wustl.edu	37	chrX	119005266	119005266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccacgggtttcgccgaaCgggtggatttataaaccacg	12	11	0	0			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chrX:119005266C>T	ENST00000371442.2	-	1	525	c.311G>A	c.(310-312)cGt>cAt	p.R104H	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	104							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TTTCGCCGAACGGGTGGATTT	0.557																																																	0								ENSG00000125352						166	168	167					X																	119005266		2203	4300	6503	RNF113A	SO:0001583	missense	0			-	HGNC	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.311G>A	X.37:g.119005266C>T	ENSP00000360497:p.Arg104His	Somatic	0	27	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	B2RBR7	Missense_Mutation	SNP	20	0	0	32	23.81	10	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.R104H	ENST00000371442.2	37	c.311	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813235	0.70912	.	.	ENSG00000125352	ENST00000371442	T	0.35048	1.33	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.80028	2.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.66106	-0.6006	10	0.54805	T	0.06	0.3625	15.7553	0.78018	0.0:1.0:0.0:0.0	.	104	O15541	R113A_HUMAN	H	104	ENSP00000360497:R104H	ENSP00000360497:R104H	R	-	2	0	RNF113A	118889294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.966000	0.56795	2.318000	0.78349	0.600000	0.82982	CGT	-	NULL		0.557	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	protein_coding	OTTHUMT00000058071.1	C	NM_006978	-		119005266	-1	no_errors	ENST00000371442	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119005266	C	T	119005266	3	4	36	1	0	0	0	0	1	0	0	0	13435	536	19	1	724	1	RNF113A	23	119005266	Missense_Mutation	SNP	C	TCGA-DX-A2J0-01A-11D-A21Q-09		119005266	36265294	48	2299											
IGSF1	3547	genome.wustl.edu	37	chrX	130419397	130419397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattacacccaggaagagcGggggtctcagcctgaatcca	11	12	1	2			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chrX:130419397G>A	ENST00000361420.3	-	5	502	c.423C>T	c.(421-423)ccC>ccT	p.P141P	IGSF1_ENST00000370910.1_Silent_p.P132P|IGSF1_ENST00000370903.3_Silent_p.P141P|IGSF1_ENST00000370904.1_Silent_p.P132P|IGSF1_ENST00000370901.4_Silent_p.P141P|IGSF1_ENST00000370900.1_Silent_p.P141P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	141	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGAAGAGCGGGGGTCTCAG	0.493																																																	0								ENSG00000147255						62	60	61					X																	130419397		2203	4299	6502	IGSF1	SO:0001819	synonymous_variant	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.423C>T	X.37:g.130419397G>A		Somatic	0	11	0		0.663660232905638				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	21	0	0	24	46.67	21	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P141	ENST00000361420.3	37	c.423	CCDS14629.1	X																																																																																			-	smart_Ig_sub		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130419397	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	silent	SNP	0.000	A	A	130419397	G	A	130419397	2	1	36	1	0	0	0	0	0	0	0	1	7598	1103	39	1		1	IGSF1	23	130419397	Silent	SNP	G	TCGA-DX-A2J0-01A-11D-A21Q-09	11414131	130419397	24851163	49	2300											
SLC9A11	284525	genome.wustl.edu	37	chr1	173486699	173486699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaactagtttcacagatgaCggtatattcaatttcacgct	6	8	3	2	rs147401558		TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr1:173486699C>T	ENST00000367714.3	-	23	3306	c.2884G>A	c.(2884-2886)Gtc>Atc	p.V962I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	962					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCACAGATGACGGTATATTCA	0.363													C|||	1	0.000199681	0	0.0014	5008	,	,		19328	0		0	False		,,,				2504	0																0								ENSG00000162753						106	109	108					1																	173486699		2203	4300	6503	SLC9C2	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2884G>A	1.37:g.173486699C>T	ENSP00000356687:p.Val962Ile	Somatic	0	47	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	Q86UF3	Missense_Mutation	SNP							pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V962I	ENST00000367714.3	37	c.2884	CCDS1308.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.461	1.093038	0.20471	.	.	ENSG00000162753	ENST00000367714	D	0.93426	-3.22	5.0	4.09	0.47781	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.401961	0.20797	N	0.085505	T	0.76485	0.3994	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.70799	-0.4774	10	0.22706	T	0.39	-10.2394	9.9671	0.41732	0.0:0.9048:0.0:0.0952	.	962	Q5TAH2	S9A11_HUMAN	I	962	ENSP00000356687:V962I	ENSP00000356687:V962I	V	-	1	0	SLC9A11	171753322	0.965000	0.33210	0.769000	0.31535	0.025000	0.11179	2.568000	0.45965	1.237000	0.43756	-0.133000	0.14855	GTC	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	protein_coding	OTTHUMT00000084205.1	C	NM_178527	rs147401558		173486699	-1	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	SNP	0.905	T	T	173486699	C	T	173486699	3	4	37	1	0	0	0	0	1	0	0	0	14719	536	19	1	514	1	SLC9A11	1	173486699	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		173486699	75763922	1	2301											
EDEM3	80267	genome.wustl.edu	37	chr1	184680917	184680917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaagggctcacgaataCtttgagcatacaatgggtca	9	8	3	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr1:184680917C>A	ENST00000318130.8	-	15	1897	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	EDEM3_ENST00000367512.3_Missense_Mutation_p.S501I|EDEM3_ENST00000466392.1_5'Flank	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	544					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCACGAATACTTTGAGCATA	0.373																																																	0								ENSG00000116406						104	98	100					1																	184680917		2203	4300	6503	EDEM3	SO:0001583	missense	0			-	HGNC	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1631G>T	1.37:g.184680917C>A	ENSP00000318147:p.Ser544Ile	Somatic	0	89	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	80	20.00	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP							pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.S544I	ENST00000318130.8	37	c.1631	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823039	0.50739	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.72942	-0.7;-0.68	5.87	5.87	0.94306	.	0.091756	0.85682	D	0.000000	T	0.56187	0.1968	N	0.24115	0.695	0.46849	D	0.999227	B	0.17465	0.022	B	0.18561	0.022	T	0.50651	-0.8803	9	.	.	.	.	13.4064	0.60915	0.0:0.9285:0.0:0.0715	.	544	Q9BZQ6	EDEM3_HUMAN	I	544;501	ENSP00000318147:S544I;ENSP00000356482:S501I	.	S	-	2	0	EDEM3	182947540	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.298000	0.43602	2.779000	0.95612	0.655000	0.94253	AGT	-	NULL		0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	protein_coding	OTTHUMT00000085785.3	C	NM_025191	-		184680917	-1	no_errors	ENST00000318130	ensembl	human	known	74_37	missense	SNP	1.000	A	A	184680917	C	A	184680917	3	1	37	1	0	0	0	0	1	0	0	0	4915	565	20	3	1191	3	EDEM3	1	184680917	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	11194218	184680917	64569704	2	2302											
KCNH8	131096	genome.wustl.edu	37	chr3	19575241	19575241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttatcattctccaagccttGattattcaccttcccactac	2	14	3	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr3:19575241G>C	ENST00000328405.2	+	16	3240	c.2974G>C	c.(2974-2976)Gat>Cat	p.D992H		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	992	Ser-rich.				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						TCCAAGCCTTGATTATTCACC	0.483																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						187	185	186					3																	19575241		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	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.2974G>C	3.37:g.19575241G>C	ENSP00000328813:p.Asp992His	Somatic	0	49	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B7Z2I7|Q59GQ6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.D992H	ENST00000328405.2	37	c.2974	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230640	0.22542	.	.	ENSG00000183960	ENST00000328405	D	0.98585	-5.01	5.48	5.48	0.80851	.	0.588281	0.12229	U	0.487640	D	0.95332	0.8485	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.91041	0.4871	9	.	.	.	.	15.8905	0.79293	0.0:0.1448:0.8552:0.0	.	992	Q96L42	KCNH8_HUMAN	H	992	ENSP00000328813:D992H	.	D	+	1	0	KCNH8	19550245	0.270000	0.24152	0.215000	0.23724	0.968000	0.65278	3.213000	0.51153	2.558000	0.86282	0.655000	0.94253	GAT	-	NULL		0.483	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	G	NM_144633	-		19575241	1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	0.896	C	C	19575241	G	C	19575241	3	2	37	1	0	0	0	0	1	0	0	0	8040	1290	45	4	3036	4	KCNH8	3	19575241	Missense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		19575241	178447189	3	2303											
EPHA5	2044	genome.wustl.edu	37	chr4	66356412	66356412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacatttgagatggcattcCgaggagcagaggggggtcct	15	7	0	2			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr4:66356412C>T	ENST00000273854.3	-	5	1685	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.R362Q|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R362Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATGGCATTCCGAGGAGCAGA	0.398										TSP Lung(17;0.13)																																							0								ENSG00000145242						45	44	44					4																	66356412		2203	4300	6503	EPHA5	SO:0001583	missense	0			-	HGNC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1085G>A	4.37:g.66356412C>T	ENSP00000273854:p.Arg362Gln	Somatic	0	52	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q7Z3F2	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R362Q	ENST00000273854.3	37	c.1085	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450707	0.43531	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57273	0.41;0.41;0.41	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000052	T	0.68155	0.2970	L	0.53780	1.695	0.53688	D	0.999976	D;P;D;P	0.76494	0.999;0.659;0.998;0.568	D;B;D;B	0.67382	0.951;0.153;0.918;0.024	T	0.60352	-0.7280	10	0.26408	T	0.33	.	20.1859	0.98214	0.0:1.0:0.0:0.0	.	362;362;362;362	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	362	ENSP00000273854:R362Q;ENSP00000346899:R362Q;ENSP00000427638:R362Q	ENSP00000273854:R362Q	R	-	2	0	EPHA5	66039007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.058000	0.57463	2.777000	0.95525	0.591000	0.81541	CGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.398	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	protein_coding	OTTHUMT00000251388.2	C	NM_004439	-		66356412	-1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66356412	C	T	66356412	3	4	37	1	0	0	0	0	1	0	0	0	5172	652	23	1	2084	1	EPHA5	4	66356412	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		66356412	124797864	4	2304											
GRIA1	2890	genome.wustl.edu	37	chr5	153065889	153065889	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatgacggcatccgaaaGgtaaggtccccctttacttc	8	12	0	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr5:153065889G>A	ENST00000285900.5	+	8	1477	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	GRIA1_ENST00000518142.1_Splice_Site_p.K298K|GRIA1_ENST00000518783.1_Splice_Site_p.K388K|GRIA1_ENST00000521843.2_Splice_Site_p.K309K|GRIA1_ENST00000448073.4_Splice_Site_p.K388K|GRIA1_ENST00000340592.5_Splice_Site_p.K378K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	378					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCATCCGAAAGGTAAGGTCCC	0.507																																																	0								ENSG00000155511						89	81	84					5																	153065889		2203	4300	6503	GRIA1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1134+1G>A	5.37:g.153065889G>A		Somatic	0	25	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K388	ENST00000285900.5	37	c.1164	CCDS4322.1	5																																																																																			-	superfamily_Peripla_BP_I		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	G		-	Silent	153065889	1	no_errors	ENST00000448073	ensembl	human	known	74_37	silent	SNP	1.000	A	A	153065889	G	A	153065889	5	1	37	1	0	0	0	0	0	0	1	0	6769	1014	35	2	1164	2	GRIA1	5	153065889	Splice_Site	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		153065889	27849371	5	2305											
MUC17	140453	genome.wustl.edu	37	chr7	100682909	100682909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctacaactgctgaaGgtaccagcatgcgaatctca	7	13	2	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr7:100682909G>T	ENST00000306151.4	+	3	8276	c.8212G>T	c.(8212-8214)Ggt>Tgt	p.G2738C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2738	59 X approximate tandem repeats.|Ser-rich.				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)					AACTGCTGAAGGTACCAGCAT	0.507																																																	0								ENSG00000169876						259	257	258					7																	100682909		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.8212G>T	7.37:g.100682909G>T	ENSP00000302716:p.Gly2738Cys	Somatic	0	196	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	148	11.38	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.G2738C	ENST00000306151.4	37	c.8212	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	4.985	0.182942	0.09495	.	.	ENSG00000169876	ENST00000306151	T	0.02236	4.38	0.861	-1.51	0.08664	.	.	.	.	.	T	0.04679	0.0127	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.38499	-0.9658	9	0.56958	D	0.05	.	5.3744	0.16156	0.3982:0.0:0.6018:0.0	.	2738	Q685J3	MUC17_HUMAN	C	2738	ENSP00000302716:G2738C	ENSP00000302716:G2738C	G	+	1	0	MUC17	100469629	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.077000	0.14738	-0.600000	0.05790	0.134000	0.15878	GGT	-	NULL		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105	-		100682909	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	T	T	100682909	G	T	100682909	3	4	37	1	0	0	0	0	1	0	0	0	9976	1000	35	3	8222	3	MUC17	7	100682909	Missense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		100682909	58455754	6	2306											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174547	150174547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagactttacgaaataCgcgattatgctgttcacccg	10	10	1	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr7:150174547C>T	ENST00000307271.3	+	5	2251	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	559	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473																																																	0								ENSG00000171115						90	91	91					7																	150174547		2203	4300	6503	GIMAP8	SO:0001819	synonymous_variant	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1677C>T	7.37:g.150174547C>T		Somatic	0	32	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83		Silent	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.Y559	ENST00000307271.3	37	c.1677	CCDS34777.1	7																																																																																			-	pfam_AIG1,superfamily_P-loop_NTPase		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	C	NM_175571	-		150174547	1	no_errors	ENST00000307271	ensembl	human	known	74_37	silent	SNP	0.009	T	T	150174547	C	T	150174547	2	4	37	1	0	0	0	0	0	0	0	1	6387	547	19	1		1	GIMAP8	7	150174547	Silent	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	49491638	150174547	8964116	7	2307											
SMU1	55234	genome.wustl.edu	37	chr9	33056193	33056193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttaacaaaggaggaatggCcacgaaattccttcagggtt	11	8	1	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr9:33056193C>A	ENST00000397149.3	-	9	1090	c.1040G>T	c.(1039-1041)gGc>gTc	p.G347V	SMU1_ENST00000536631.1_Missense_Mutation_p.G186V	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	347						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GGAGGAATGGCCACGAAATTC	0.333																																																	0								ENSG00000122692						86	76	80					9																	33056193		2203	4300	6503	SMU1	SO:0001583	missense	0			-	HGNC	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.1040G>T	9.37:g.33056193C>A	ENSP00000380336:p.Gly347Val	Somatic	0	27	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G347V	ENST00000397149.3	37	c.1040	CCDS6534.1	9	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820029	0.90873	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.70516	-0.49;-0.49	5.46	5.46	0.80206	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	0.84556	0.5498	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.997	D	0.86025	0.1509	10	0.87932	D	0	-7.7834	17.1519	0.86780	0.0:1.0:0.0:0.0	.	347;186;347	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	V	347;186	ENSP00000380336:G347V;ENSP00000443639:G186V	ENSP00000380336:G347V	G	-	2	0	SMU1	33046193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.494000	0.81503	2.727000	0.93392	0.655000	0.94253	GGC	-	pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.333	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMU1	protein_coding	OTTHUMT00000052022.1	C	NM_018225	-		33056193	-1	no_errors	ENST00000397149	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33056193	C	A	33056193	3	1	37	1	0	0	0	0	1	0	0	0	14825	739	26	3	517	3	SMU1	9	33056193	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		33056193	108157238	8	2308											
SLC31A2	1318	genome.wustl.edu	37	chr9	115923901	115923901	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaacctgccaacctccatCagccagcagaccatcgcaga	8	16	1	3			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr9:115923901C>T	ENST00000259392.3	+	3	319	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	62					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	CAACCTCCATCAGCCAGCAGA	0.557																																																	0								ENSG00000136867						117	120	119					9																	115923901		2129	4239	6368	SLC31A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"Solute carriers"	11017	protein-coding gene	gene with protein product	"copper transporter 2"	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.186C>T	9.37:g.115923901C>T		Somatic	0	33	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	643	33	94.98		Silent	SNP							pfam_Cop_transporter	p.I62	ENST00000259392.3	37	c.186	CCDS6788.1	9																																																																																			-	pfam_Cop_transporter		0.557	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	protein_coding	OTTHUMT00000055509.2	C	NM_001860	-		115923901	1	no_errors	ENST00000259392	ensembl	human	known	74_37	silent	SNP	0.030	T	T	115923901	C	T	115923901	2	4	37	1	0	0	0	0	0	0	0	1	14572	816	29	2		2	SLC31A2	9	115923901	Silent	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	82867708	115923901	25289530	9	2309											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651227	1651228	+	Frame_Shift_Ins	INS	-	-	GAGGC													gggctgtggctccggctgtgINScgggctgtgggggatgtggc					rs71454096	byFrequency	TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr11:1651227_1651228insGAGGC	ENST00000399676.2	+	1	195_196	c.157_158insGAGGC	c.(157-159)gcgfs	p.A53fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	53				A -> G (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctccggctgtgcgggctgtggg	0.683																																																	0								ENSG00000185940																																			KRTAP5-5	SO:0001589	frameshift_variant	0				HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651227_1651228insGAGGC	ENSP00000382584:p.Ala53fs	Somatic					0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MWN2	Frame_Shift_Ins	INS							NULL	p.A53fs	ENST00000399676.2	37	c.157_158	CCDS41592.1	11																																																																																			-	NULL		0.683	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	-				1651228	1	no_errors	ENST00000399676	ensembl	human	known	74_37	frame_shift_ins	INS	0.083:0.113	GAGGC	GAGGC	1651228	-	GAGGC	1651227	7	5	37	1	0	1	1	0	0	0	0	0	8566	1319	46	0	159	0	KRTAP5-5	11	1651227	Frame_Shift_Ins	INS	-	TCGA-DX-A2J1-01A-11D-A21Q-09		1651227	133355289	10	2310	32	2									
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651229	1651230	+	Frame_Shift_Ins	INS	-	-	TGGCTCC													gctgtggctccggctgtgcgINSggctgtgggggatgtggctc					rs553119014	byFrequency	TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr11:1651229_1651230insTGGCTCC	ENST00000399676.2	+	1	197_198	c.159_160insTGGCTCC	c.(160-162)ggcfs	p.G54fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	54						keratin filament (GO:0045095)		p.A53A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtgcgggctgtggggg	0.683																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000185940																																			KRTAP5-5	SO:0001589	frameshift_variant	0				HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651229_1651230insTGGCTCC	ENSP00000382584:p.Gly54fs	Somatic					0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MWN2	Frame_Shift_Ins	INS							NULL	p.G53fs	ENST00000399676.2	37	c.159_160	CCDS41592.1	11																																																																																			-	NULL		0.683	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	-				1651230	1	no_errors	ENST00000399676	ensembl	human	known	74_37	frame_shift_ins	INS	0.325:0.996	TGGCTCC	TGGCTCC	1651230	-	TGGCTCC	1651229	7	5	37	1	0	1	1	0	0	0	0	0	8566	1103	39	0	161	0	KRTAP5-5	11	1651229	Frame_Shift_Ins	INS	-	TCGA-DX-A2J1-01A-11D-A21Q-09	2	1651229	133355287	11	2311	32	2									
CTTN	2017	genome.wustl.edu	37	chr11	70255965	70255965	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgagggagaatgtctttCaagagcatcagacccttaag	11	8	3	4			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr11:70255965C>T	ENST00000301843.8	+	5	396	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	CTTN_ENST00000346329.3_Nonsense_Mutation_p.Q64*|CTTN_ENST00000376561.3_Nonsense_Mutation_p.Q64*|CTTN_ENST00000527622.1_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	64					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GAATGTCTTTCAAGAGCATCA	0.428																																																	0								ENSG00000085733						216	214	214					11																	70255965		2200	4294	6494	CTTN	SO:0001587	stop_gained	0			-	HGNC	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.190C>T	11.37:g.70255965C>T	ENSP00000301843:p.Gln64*	Somatic	0	37	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.96	Q8N707|Q96H99	Nonsense_Mutation	SNP							pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.Q64*	ENST00000301843.8	37	c.190	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117914	0.56505	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	.	.	.	5.12	4.2	0.49525	.	0.241097	0.41938	D	0.000792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-23.1195	13.7335	0.62804	0.0:0.9254:0.0:0.0746	.	.	.	.	X	64	.	ENSP00000301843:Q64X	Q	+	1	0	CTTN	69933613	0.919000	0.31177	0.958000	0.39756	0.005000	0.04900	2.270000	0.43355	1.141000	0.42275	0.563000	0.77884	CAA	-	NULL		0.428	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	protein_coding	OTTHUMT00000259233.2	C	NM_138565	-		70255965	1	no_errors	ENST00000301843	ensembl	human	known	74_37	nonsense	SNP	0.996	T	T	70255965	C	T	70255965	4	4	37	1	0	0	0	0	0	1	0	0	4046	827	29	2	200	2	CTTN	11	70255965	Nonsense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	68604736	70255965	64750551	12	2312											
SLC6A13	6540	genome.wustl.edu	37	chr12	352956	352956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaggtaaagaggaagaCgaggtaggggatgaagaagg	18	4	0	4	rs147275386	byFrequency	TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr12:352956C>T	ENST00000343164.4	-	3	278	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	76					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAGAGGAAGACGAGGTAGGGG	0.527													C|||	2	0.000399361	0	0	5008	,	,		22796	0		0.001	False		,,,				2504	0.001																0								ENSG00000010379	C	,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96	88	91		,226	5	1	12	dbSNP_134	91	0,8600		0,0,4300	no	intron,missense	SLC6A13	NM_001190997.2,NM_016615.4	,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,76/603	352956	1,13005	2203	4300	6503	SLC6A13	SO:0001583	missense	0			GMAF=0.0005	HGNC	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.226G>A	12.37:g.352956C>T	ENSP00000339260:p.Val76Ile	Somatic	0	87	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.V76I	ENST00000343164.4	37	c.226	CCDS8502.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.365	0.252624	0.10185	2.27E-4	0.0	ENSG00000010379	ENST00000313154;ENST00000343164	T	0.72282	-0.64	6.17	4.97	0.65823	.	0.088257	0.85682	N	0.000000	T	0.31857	0.0810	N	0.00382	-1.575	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.005	T	0.46076	-0.9217	10	0.02654	T	1	.	12.2354	0.54512	0.0:0.0665:0.0:0.9335	.	55;76	B4DJS3;Q9NSD5	.;S6A13_HUMAN	I	55;76	ENSP00000339260:V76I	ENSP00000318097:V55I	V	-	1	0	SLC6A13	223217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.886000	0.63149	1.146000	0.42352	-0.290000	0.09829	GTC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.527	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	protein_coding	OTTHUMT00000397801.1	C	NM_016615	rs147275386		352956	-1	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	SNP	1.000	T	T	352956	C	T	352956	3	4	37	1	0	0	0	0	1	0	0	0	14684	536	19	1	1634	1	SLC6A13	12	352956	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		352956	133498939	13	2313											
SLC4A8	9498	genome.wustl.edu	37	chr12	51857442	51857442	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatggaaatgtttgccaCatagaacaggaaccacatgg	9	9	0	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr12:51857442C>G	ENST00000453097.2	+	11	1510	c.1293C>G	c.(1291-1293)caC>caG	p.H431Q	SLC4A8_ENST00000514353.3_Missense_Mutation_p.H378Q|SLC4A8_ENST00000358657.3_Missense_Mutation_p.H458Q|SLC4A8_ENST00000535225.2_Missense_Mutation_p.H378Q|SLC4A8_ENST00000394856.1_Missense_Mutation_p.H378Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATGTTTGCCACATAGAACAGG	0.463																																																	0								ENSG00000050438						116	117	116					12																	51857442		2203	4300	6503	SLC4A8	SO:0001583	missense	0			-	HGNC	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1293C>G	12.37:g.51857442C>G	ENSP00000405812:p.His431Gln	Somatic	0	51	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	118	334	26.11		Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.H431Q	ENST00000453097.2	37	c.1293	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	8.249	0.808491	0.16467	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.76186	-0.36;-1.0;-1.0;-0.38;-0.38	5.42	3.58	0.41010	.	0.297548	0.39210	N	0.001439	T	0.57388	0.2050	L	0.44542	1.39	0.40242	D	0.977978	P;B;B;B;B;B	0.35363	0.497;0.003;0.01;0.001;0.0;0.0	B;B;B;B;B;B	0.28553	0.091;0.004;0.008;0.002;0.004;0.006	T	0.52946	-0.8507	10	0.13470	T	0.59	.	7.4986	0.27505	0.0:0.6927:0.0:0.3073	.	378;458;378;431;431;431	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	Q	378;458;431;378;431;378;378	ENSP00000441520:H378Q;ENSP00000351483:H458Q;ENSP00000405812:H431Q;ENSP00000378325:H378Q;ENSP00000442561:H378Q	ENSP00000315789:H431Q	H	+	3	2	SLC4A8	50143709	0.513000	0.26194	1.000000	0.80357	0.977000	0.68977	0.345000	0.19979	1.451000	0.47736	0.655000	0.94253	CAC	-	tigrfam_HCO3_transpt_euk		0.463	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	protein_coding	OTTHUMT00000404356.1	C	NM_004858	-		51857442	1	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	SNP	0.984	G	G	51857442	C	G	51857442	3	3	37	1	0	0	0	0	1	0	0	0	14667	477	17	4	1335	4	SLC4A8	12	51857442	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	51504486	51857442	81994453	14	2314											
PPP1R1A	5502	genome.wustl.edu	37	chr12	54975829	54975829	+	Missense_Mutation	SNP	C	C	T													gatcccaggtgggcgggactCctgggtttctgtgctctcag							TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr12:54975829C>T	ENST00000257905.8	-	5	504	c.334G>A	c.(334-336)Gag>Aag	p.E112K	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	112					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						GGGCGGGACTCCTGGGTTTCT	0.602																																																	0								ENSG00000135447						68	70	69					12																	54975829		1916	4113	6029	PPP1R1A	SO:0001583	missense	0			-	HGNC	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.334G>A	12.37:g.54975829C>T	ENSP00000257905:p.Glu112Lys	Somatic	0	40	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	251	39	86.55	Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP							pfam_PPI_1DARPP-32	p.E112K	ENST00000257905.8	37	c.334	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697115	0.68386	.	.	ENSG00000135447	ENST00000257905	T	0.32023	1.47	5.28	4.32	0.51571	.	0.320500	0.26948	N	0.021681	T	0.39091	0.1065	L	0.55481	1.735	0.30318	N	0.787903	P	0.48162	0.906	P	0.51777	0.679	T	0.35425	-0.9789	10	0.54805	T	0.06	.	11.3674	0.49679	0.0:0.817:0.183:0.0	.	112	Q13522	PPR1A_HUMAN	K	112	ENSP00000257905:E112K	ENSP00000257905:E112K	E	-	1	0	PPP1R1A	53262096	0.998000	0.40836	1.000000	0.80357	0.649000	0.38597	0.874000	0.28065	2.629000	0.89072	0.655000	0.94253	GAG	-	pfam_PPI_1DARPP-32		0.602	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	protein_coding	OTTHUMT00000406604.1	C	NM_006741	-		54975829	-1	no_errors	ENST00000257905	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54975829	C	T	54975829	3	4	37	1	0	0	0	0	1	0	0	0	12372	864	30	2	193	2	PPP1R1A	12	54975829	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	3118387	54975829	78876066	15	2315	33	2									
PPP1R1A	5502	genome.wustl.edu	37	chr12	54975830	54975830	+	Missense_Mutation	SNP	C	C	G													atcccaggtgggcgggactcCtgggtttctgtgctctcagc							TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr12:54975830C>G	ENST00000257905.8	-	5	503	c.333G>C	c.(331-333)caG>caC	p.Q111H	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	111					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						GGCGGGACTCCTGGGTTTCTG	0.602																																																	0								ENSG00000135447						68	70	69					12																	54975830		1917	4115	6032	PPP1R1A	SO:0001583	missense	0			-	HGNC	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.333G>C	12.37:g.54975830C>G	ENSP00000257905:p.Gln111His	Somatic	0	40	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	255	40	86.44	Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP							pfam_PPI_1DARPP-32	p.Q111H	ENST00000257905.8	37	c.333	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208158	0.58343	.	.	ENSG00000135447	ENST00000257905	T	0.33216	1.42	5.28	4.39	0.52855	.	0.460512	0.19916	N	0.103199	T	0.43656	0.1257	L	0.55481	1.735	0.29944	N	0.820818	P	0.42123	0.771	P	0.57152	0.814	T	0.34900	-0.9810	10	0.32370	T	0.25	.	10.051	0.42216	0.0:0.9066:0.0:0.0934	.	111	Q13522	PPR1A_HUMAN	H	111	ENSP00000257905:Q111H	ENSP00000257905:Q111H	Q	-	3	2	PPP1R1A	53262097	0.991000	0.36638	1.000000	0.80357	0.633000	0.38033	0.290000	0.18975	1.366000	0.46076	0.655000	0.94253	CAG	-	pfam_PPI_1DARPP-32		0.602	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	protein_coding	OTTHUMT00000406604.1	C	NM_006741	-		54975830	-1	no_errors	ENST00000257905	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54975830	C	G	54975830	3	3	37	1	0	0	0	0	1	0	0	0	12372	680	24	4	194	4	PPP1R1A	12	54975830	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	1	54975830	78876065	16	2316	33	2									
R3HDM2	22864	genome.wustl.edu	37	chr12	57693914	57693914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagcaaatggggtggaGgactcctcacacactgccag	11	13	2	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr12:57693914G>A	ENST00000347140.3	-	5	648	c.258C>T	c.(256-258)tcC>tcT	p.S86S	R3HDM2_ENST00000403821.2_Silent_p.S86S|R3HDM2_ENST00000402412.1_Silent_p.S86S|R3HDM2_ENST00000358907.2_Silent_p.S86S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	86						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ATGGGGTGGAGGACTCCTCAC	0.393																																																	0								ENSG00000179912						58	53	55					12																	57693914		692	1591	2283	R3HDM2	SO:0001819	synonymous_variant	0			-	HGNC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.258C>T	12.37:g.57693914G>A		Somatic	0	34	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	37	43.94	Q2M1T9|Q3ZCT5	Silent	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.S86	ENST00000347140.3	37	c.258	CCDS8937.2	12																																																																																			-	NULL		0.393	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	protein_coding	OTTHUMT00000326570.2	G	NM_014925	-		57693914	-1	no_errors	ENST00000347140	ensembl	human	known	74_37	silent	SNP	0.998	A	A	57693914	G	A	57693914	2	1	37	1	0	0	0	0	0	0	0	1	12896	987	35	2		2	R3HDM2	12	57693914	Silent	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09	2718084	57693914	76157981	17	2317											
E2F7	144455	genome.wustl.edu	37	chr12	77458410	77458410	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttagtgttaaacaatttacCtccatctgtaatgcacaatt	4	8	1	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr12:77458410C>G	ENST00000322886.7	-	2	241	c.6G>C	c.(4-6)gaG>gaC	p.E2D	E2F7_ENST00000416496.2_Missense_Mutation_p.E2D	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	2					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|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)|identical protein binding (GO:0042802)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AACAATTTACCTCCATCTGTA	0.343																																																	0								ENSG00000165891						124	117	119					12																	77458410		2203	4300	6503	E2F7	SO:0001583	missense	0			-	HGNC	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.6G>C	12.37:g.77458410C>G	ENSP00000323246:p.Glu2Asp	Somatic	0	35	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	80	37	68.38	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP							pfam_E2F_TDP	p.E2D	ENST00000322886.7	37	c.6	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780506	0.70222	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.11	3.2	0.36748	.	0.145132	0.64402	N	0.000009	D	0.88858	0.6551	L	0.56769	1.78	0.47621	D	0.999476	D;B	0.89917	1.0;0.058	D;B	0.83275	0.996;0.026	D	0.88362	0.2988	10	0.87932	D	0	-19.1147	8.0955	0.30826	0.1581:0.7562:0.0:0.0858	.	2;2	F8VSE7;Q96AV8	.;E2F7_HUMAN	D	2	ENSP00000323246:E2D;ENSP00000393639:E2D;ENSP00000448245:E2D;ENSP00000449033:E2D	ENSP00000323246:E2D	E	-	3	2	E2F7	75982541	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.798000	0.27014	1.339000	0.45563	0.561000	0.74099	GAG	-	NULL		0.343	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	protein_coding	OTTHUMT00000406716.1	C	XM_084871	-		77458410	-1	no_errors	ENST00000322886	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77458410	C	G	77458410	3	3	37	1	0	0	0	0	1	0	0	0	4874	680	24	4	2777	4	E2F7	12	77458410	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09	19764496	77458410	56393485	18	2318											
KIF26A	26153	genome.wustl.edu	37	chr14	104638087	104638087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgctgcggatctggcccGcacagggggcccagcgctcg	15	14	1	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr14:104638087G>T	ENST00000423312.2	+	6	1141	c.1141G>T	c.(1141-1143)Gca>Tca	p.A381S	KIF26A_ENST00000315264.7_Missense_Mutation_p.A242S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	381	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GATCTGGCCCGCACAGGGGGC	0.682																																																	0								ENSG00000066735						9	13	12					14																	104638087		1930	4120	6050	KIF26A	SO:0001583	missense	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1141G>T	14.37:g.104638087G>T	ENSP00000388241:p.Ala381Ser	Somatic	0	51	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	58	17.14	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.A381S	ENST00000423312.2	37	c.1141	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222295	0.09863	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.41758	0.99;0.99	3.77	-2.85	0.05734	Kinesin, motor domain (3);	.	.	.	.	T	0.13670	0.0331	N	0.02539	-0.55	0.20196	N	0.99993	B	0.10296	0.003	B	0.09377	0.004	T	0.35400	-0.9790	9	0.06099	T	0.92	.	8.9911	0.36024	0.0919:0.0:0.1858:0.7222	.	381	Q9ULI4	KI26A_HUMAN	S	381;242	ENSP00000388241:A381S;ENSP00000325452:A242S	ENSP00000325452:A242S	A	+	1	0	KIF26A	103707840	0.993000	0.37304	0.004000	0.12327	0.653000	0.38743	2.564000	0.45931	-0.338000	0.08413	0.462000	0.41574	GCA	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	G		-		104638087	1	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	SNP	0.327	T	T	104638087	G	T	104638087	3	4	37	1	0	0	0	0	1	0	0	0	8296	1087	38	3	1163	3	KIF26A	14	104638087	Missense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		104638087	2711453	19	2319											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77359769	77359769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaccaaattaccttccaCttttgtatagggtttccact	6	10	0	1	rs200959747		TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr16:77359769C>A	ENST00000282849.5	-	13	2444	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	676	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTACCTTCCACTTTTGTATAG	0.373													C|||	1	0.000199681	0	0	5008	,	,		18677	0		0.001	False		,,,				2504	0																0								ENSG00000140873						96	86	89					16																	77359769		2198	4300	6498	ADAMTS18	SO:0001583	missense	0			GMAF=0.0005	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2026G>T	16.37:g.77359769C>A	ENSP00000282849:p.Val676Leu	Somatic	0	51	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V676L	ENST00000282849.5	37	c.2026	CCDS10926.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.08	3.296668	0.60086	.	.	ENSG00000140873	ENST00000282849	T	0.59364	0.27	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.74647	2.275	0.58432	D	0.999999	B;P	0.41475	0.315;0.751	B;B	0.42738	0.233;0.396	T	0.60429	-0.7265	10	0.24483	T	0.36	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	676;676	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	L	676	ENSP00000282849:V676L	ENSP00000282849:V676L	V	-	1	0	ADAMTS18	75917270	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GTG	-	NULL		0.373	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	C		rs200959747		77359769	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77359769	C	A	77359769	3	1	37	1	0	0	0	0	1	0	0	0	263	565	20	3	1683	3	ADAMTS18	16	77359769	Missense_Mutation	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		77359769	12994984	20	2320											
TP53	7157	genome.wustl.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M		ENSG00000141510						132	118	123					17																	7578212		2203	4300	6503	TP53	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;	-	HGNC	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	Somatic	0	63	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7578212	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.893	A	A	7578212	G	A	7578212	4	1	37	1	0	0	0	0	0	1	0	0	16388	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		7578212	73616998	21	2321											
FBXW10	10517	genome.wustl.edu	37	chr17	18668118	18668118	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaggggactatcacTtgcatggacttgtgtaagaa	12	8	2	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr17:18668118T>G	ENST00000395665.4	+	8	1718	c.1497T>G	c.(1495-1497)acT>acG	p.T499T	FBXW10_ENST00000395667.1_Silent_p.T499T|FBXW10_ENST00000301938.4_Silent_p.T499T|FBXW10_ENST00000308799.4_Silent_p.T528T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	499										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGACTATCACTTGCATGGACT	0.468																																																	0								ENSG00000171931						58	59	58					17																	18668118		2201	4279	6480	FBXW10	SO:0001819	synonymous_variant	0			-	HGNC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1497T>G	17.37:g.18668118T>G		Somatic	0	64	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T528	ENST00000395665.4	37	c.1584	CCDS11199.3	17																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	protein_coding	OTTHUMT00000313531.2	T	NM_031456	-		18668118	1	no_errors	ENST00000308799	ensembl	human	known	74_37	silent	SNP	0.998	G	G	18668118	T	G	18668118	2	3	37	1	0	0	0	0	0	0	0	1	5765	1596	56	5		5	FBXW10	17	18668118	Silent	SNP	T	TCGA-DX-A2J1-01A-11D-A21Q-09	11089906	18668118	62527092	22	2322											
KCNH4	23415	genome.wustl.edu	37	chr17	40321679	40321679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgttcccgaacaccAcagcgtgcatcagggctgca	10	15	2	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr17:40321679A>G	ENST00000264661.3	-	9	1738	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	KCNH4_ENST00000607371.1_Missense_Mutation_p.V469A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	469					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCCGAACACCACAGCGTGCAT	0.647																																					NSCLC(117;707 1703 2300 21308 31858)												0								ENSG00000089558						69	56	61					17																	40321679		2203	4300	6503	KCNH4	SO:0001583	missense	0			-	HGNC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1406T>C	17.37:g.40321679A>G	ENSP00000264661:p.Val469Ala	Somatic	0	66	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19		Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.V469A	ENST00000264661.3	37	c.1406	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201400	0.38905	.	.	ENSG00000089558	ENST00000264661	D	0.98531	-4.98	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.33253	N	0.005112	D	0.94994	0.8380	N	0.16903	0.455	0.54753	D	0.999981	B	0.18166	0.026	B	0.30943	0.122	D	0.92550	0.6049	10	0.25751	T	0.34	.	13.7185	0.62712	1.0:0.0:0.0:0.0	.	469	Q9UQ05	KCNH4_HUMAN	A	469	ENSP00000264661:V469A	ENSP00000264661:V469A	V	-	2	0	KCNH4	37575205	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.097000	0.94193	1.828000	0.53243	0.379000	0.24179	GTG	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_ELK		0.647	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	protein_coding	OTTHUMT00000449791.2	A	NM_012285	-		40321679	-1	no_errors	ENST00000264661	ensembl	human	known	74_37	missense	SNP	1.000	G	G	40321679	A	G	40321679	3	3	37	1	0	0	0	0	1	0	0	0	8036	159	6	5	1679	5	KCNH4	17	40321679	Missense_Mutation	SNP	A	TCGA-DX-A2J1-01A-11D-A21Q-09	21653561	40321679	40873531	23	2323											
DLGAP1	9229	genome.wustl.edu	37	chr18	3879315	3879315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgtcgttgttgctccGggaggccttcaccgcctgct	12	14	1	1	rs572784569		TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr18:3879315G>A	ENST00000315677.3	-	4	1349	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	252					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTGTTGCTCCGGGAGGCCTTC	0.657													G|||	1	0.000199681	0	0	5008	,	,		16926	0		0	False		,,,				2504	0.001																0								ENSG00000170579						61	60	60					18																	3879315		2203	4300	6503	DLGAP1	SO:0001583	missense	0			-	HGNC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.754C>T	18.37:g.3879315G>A	ENSP00000316377:p.Arg252Trp	Somatic	0	49	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP							pfam_GKAP	p.R252W	ENST00000315677.3	37	c.754	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633677	0.67130	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.30714	1.52;1.52	5.51	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.64997	1.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.982	T	0.55483	-0.8134	10	0.87932	D	0	-21.5295	12.9962	0.58648	0.0:0.0:0.5897:0.4102	.	252;252;252	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	252	ENSP00000316377:R252W;ENSP00000445973:R252W	ENSP00000316377:R252W	R	-	1	2	DLGAP1	3869315	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.903000	0.39858	1.314000	0.45095	0.655000	0.94253	CGG	-	NULL		0.657	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	protein_coding	OTTHUMT00000254394.4	G		-		3879315	-1	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3879315	G	A	3879315	3	1	37	1	0	0	0	0	1	0	0	0	4561	1115	39	1	2274	1	DLGAP1	18	3879315	Missense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		3879315	74197933	24	2324											
ZNF229	7772	genome.wustl.edu	37	chr19	44934383	44934383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctaactggttcacaaaCgcttttgcccaagatccttg	6	14	1	1			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr19:44934383C>T	ENST00000588931.1	-	6	1006	c.573G>A	c.(571-573)gcG>gcA	p.A191A	ZNF229_ENST00000291187.4_Silent_p.A185A|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	191					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)				GGTTCACAAACGCTTTTGCCC	0.428																																																	0								ENSG00000167383						100	95	97					19																	44934383		1857	4096	5953	ZNF229	SO:0001819	synonymous_variant	0			-	HGNC	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.573G>A	19.37:g.44934383C>T		Somatic	0	46	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	46	11.54	B2RWN3|Q59FV2|Q86WL9	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A191	ENST00000588931.1	37	c.573	CCDS42574.1	19																																																																																			-	NULL		0.428	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	protein_coding	OTTHUMT00000460833.1	C	NM_014518	-		44934383	-1	no_errors	ENST00000588931	ensembl	human	known	74_37	silent	SNP	0.000	T	T	44934383	C	T	44934383	2	4	37	1	0	0	0	0	0	0	0	1	17789	523	19	1		1	ZNF229	19	44934383	Silent	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		44934383	14194600	25	2325											
KCNJ6	3763	genome.wustl.edu	37	chr21	39086687	39086687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataccctacgttgatatccGtctggttcaacgggatgaac	9	10	2	2			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr21:39086687G>A	ENST00000609713.1	-	3	1362	c.773C>T	c.(772-774)aCg>aTg	p.T258M	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T258M|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	258					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)	GTTGATATCCGTCTGGTTCAA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0								ENSG00000157542						115	117	117					21																	39086687		1913	4142	6055	KCNJ6	SO:0001583	missense	0			-	HGNC	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.773C>T	21.37:g.39086687G>A	ENSP00000477437:p.Thr258Met	Somatic	0	71	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	Q3MJ74|Q53WW6	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T258M	ENST00000609713.1	37	c.773	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182122	0.57800	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91577	-2.87;-2.87	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	0.95620	0.8576	M	0.79475	2.455	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94231	0.7476	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	258	P48051	IRK6_HUMAN	M	258	ENSP00000383330:T258M;ENSP00000288309:T258M	ENSP00000288309:T258M	T	-	2	0	KCNJ6	38008557	1.000000	0.71417	0.973000	0.42090	0.708000	0.40852	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	ACG	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	protein_coding	OTTHUMT00000194828.2	G	NM_002240	-		39086687	-1	no_errors	ENST00000288309	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39086687	G	A	39086687	3	1	37	1	0	0	0	0	1	0	0	0	8057	1145	40	1	506	1	KCNJ6	21	39086687	Missense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		39086687	9043208	26	2326											
IL17RA	23765	genome.wustl.edu	37	chr22	17579665	17579665	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctccctctcctgcagCcagcatcctgtacctcgagg	7	18	3	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chr22:17579665C>T	ENST00000319363.6	+	4	444	c.311C>T	c.(310-312)gCc>gTc	p.A104V	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	104					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCTCCTGCAGCCAGCATCCTG	0.498																																																	0								ENSG00000177663						126	93	104					22																	17579665		2203	4300	6503	IL17RA	SO:0001630	splice_region_variant	0			-	HGNC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.311-1C>T	22.37:g.17579665C>T		Somatic	0	37	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	O43844|Q20WK1	Missense_Mutation	SNP							pfam_SEFIR	p.A104V	ENST00000319363.6	37	c.311	CCDS13739.1	22	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971790	0.74246	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.25250	1.81	5.97	4.93	0.64822	.	0.171616	0.38326	N	0.001735	T	0.43612	0.1255	M	0.64997	1.995	0.39081	D	0.960909	D;D	0.89917	1.0;0.999	P;P	0.61070	0.883;0.77	T	0.26430	-1.0103	9	.	.	.	.	14.3761	0.66879	0.0:0.8155:0.1845:0.0	.	104;104	D3YTB4;Q96F46	.;I17RA_HUMAN	V	104	ENSP00000320936:A104V	.	A	+	2	0	IL17RA	15959665	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	1.799000	0.38824	2.837000	0.97791	0.655000	0.94253	GCC	-	NULL		0.498	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	protein_coding	OTTHUMT00000315820.1	C	NM_014339	-	Missense_Mutation	17579665	1	no_errors	ENST00000319363	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17579665	C	T	17579665	5	4	37	1	0	0	0	0	0	0	1	0	7641	753	26	2	325	2	IL17RA	22	17579665	Splice_Site	SNP	C	TCGA-DX-A2J1-01A-11D-A21Q-09		17579665	33724901	27	2327											
DUSP21	63904	genome.wustl.edu	37	chrX	44703772	44703772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatgtcgctgctggacGcccatacatggaccaagtcg	10	14	0	0			TCGA-DX-A2J1-01A-11D-A21Q-09	TCGA-DX-A2J1-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3278541c-2838-4fda-a6fe-cacf4452baae	c9668713-33ae-4fe6-9a86-f669778a8f53	g.chrX:44703772G>A	ENST00000339042.4	+	1	524	c.394G>A	c.(394-396)Gcc>Acc	p.A132T		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	132	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCTGCTGGACGCCCATACATG	0.557																																																	0								ENSG00000189037						80	62	68					X																	44703772		2203	4300	6503	DUSP21	SO:0001583	missense	0			-	HGNC	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.394G>A	X.37:g.44703772G>A	ENSP00000343244:p.Ala132Thr	Somatic	0	21	0		0.530742949282317				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP	p.A132T	ENST00000339042.4	37	c.394	CCDS14264.1	X	.	.	.	.	.	.	.	.	.	.	g	18.05	3.537326	0.65085	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.92495	-3.05	4.21	4.21	0.49690	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	D	0.95656	0.8711	10	0.87932	D	0	.	13.4772	0.61316	0.0:0.0:1.0:0.0	.	132	Q9H596	DUS21_HUMAN	T	132;131	ENSP00000343244:A132T	ENSP00000343244:A132T	A	+	1	0	DUSP21	44588716	1.000000	0.71417	0.059000	0.19551	0.015000	0.08874	9.492000	0.97957	2.348000	0.79779	0.597000	0.82753	GCC	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.557	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP21	protein_coding	OTTHUMT00000056323.1	G	NM_022076	-		44703772	1	no_errors	ENST00000339042	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44703772	G	A	44703772	3	1	37	1	0	0	0	0	1	0	0	0	4822	1087	38	1	396	1	DUSP21	23	44703772	Missense_Mutation	SNP	G	TCGA-DX-A2J1-01A-11D-A21Q-09		44703772	110566788	28	2328											
LOR	4014	genome.wustl.edu	37	chr1	153233991	153233992	+	In_Frame_Ins	INS	-	-	CTCTGGCGGCGT													ggcggctctgtctgcggctaINSctctggcggcggctctggct					rs11272549|rs547333583|rs561634896	byFrequency	TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr1:153233991_153233992insCTCTGGCGGCGT	ENST00000368742.3	+	2	623_624	c.566_567insCTCTGGCGGCGT	c.(565-570)tactct>taCTCTGGCGGCGTctct	p.190_191insGGVS		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	190					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggcg	0.743																																																	0								ENSG00000203782																																			LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	Exception_encountered	1.37:g.153233991_153233992insCTCTGGCGGCGT	ENSP00000357731:p.Ser190_Gly191insGlyGlyValSer	Somatic					0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T869|Q5XKF8	In_Frame_Ins	INS	16	0	0	24	0.00	0	NULL	p.193in_frame_insVSGG	ENST00000368742.3	37	c.566_567	CCDS30870.1	1																																																																																			-	NULL		0.743	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233992	1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.014:0.200	CTCTGGCGGCGT	CTCTGGCGGCGT	153233992	-	CTCTGGCGGCGT	153233991	7	5	38	1	0	1	1	0	0	0	0	0	8899	391	14	0	568	0	LOR	1	153233991	In_Frame_Ins	INS	-	TCGA-DX-A2J4-01A-32D-A21Q-09		153233991	96016630	1	2329											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232607223	232607223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaggaagtgccccaggctCctggaagacgatggtgacga	14	9	0	2			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr1:232607223C>T	ENST00000366630.1	-	7	2495	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E713K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	713	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCCCAGGCTCCTGGAAGACG	0.413																																																	0								ENSG00000116991						137	143	141					1																	232607223		2123	4272	6395	SIPA1L2	SO:0001583	missense	0			-	HGNC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2137G>A	1.37:g.232607223C>T	ENSP00000355589:p.Glu713Lys	Somatic	0	82	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	40	0	0	49	15.52	9	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E713K	ENST00000366630.1	37	c.2137	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.878050	0.97055	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.97352	-4.35;-4.35	5.98	5.98	0.97165	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99069	1.0833	10	0.66056	D	0.02	-43.8212	20.4561	0.99145	0.0:1.0:0.0:0.0	.	713	Q9P2F8	SI1L2_HUMAN	K	713	ENSP00000355589:E713K;ENSP00000262861:E713K	ENSP00000262861:E713K	E	-	1	0	SIPA1L2	230673846	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.843000	0.97960	0.650000	0.86243	GAG	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.413	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	C	XM_045839	-		232607223	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	SNP	1.000	T	T	232607223	C	T	232607223	3	4	38	1	0	0	0	0	1	0	0	0	14338	864	30	2	3095	2	SIPA1L2	1	232607223	Missense_Mutation	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09	79373232	232607223	16643398	2	2330											
RFTN2	130132	genome.wustl.edu	37	chr2	198540166	198540166	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcagggtcttctagctttCtaagtccgcaccccatggca	8	14	4	0			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr2:198540166C>T	ENST00000295049.4	-	1	553	c.17G>A	c.(16-18)aGa>aAa	p.R6K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	6					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TTCTAGCTTTCTAAGTCCGCA	0.413																																																	0								ENSG00000162944						118	129	125					2																	198540166		2203	4300	6503	RFTN2	SO:0001583	missense	0			-	HGNC	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.17G>A	2.37:g.198540166C>T	ENSP00000295049:p.Arg6Lys	Somatic	0	19	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	32	0	0	39	27.78	15	NULL	p.R6K	ENST00000295049.4	37	c.17	CCDS2323.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.347010	0.95807	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.35605	1.3;1.3	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.64997	1.995	0.58432	D	0.999993	D	0.71674	0.998	D	0.77557	0.99	T	0.44050	-0.9353	10	0.18710	T	0.47	-32.0444	18.3002	0.90160	0.0:1.0:0.0:0.0	.	6	Q52LD8	RFTN2_HUMAN	K	6	ENSP00000295049:R6K;ENSP00000398128:R6K	ENSP00000295049:R6K	R	-	2	0	RFTN2	198248411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.127000	0.77210	2.747000	0.94245	0.585000	0.79938	AGA	-	NULL		0.413	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	protein_coding	OTTHUMT00000256106.2	C	NM_144629	-		198540166	-1	no_errors	ENST00000295049	ensembl	human	known	74_37	missense	SNP	1.000	T	T	198540166	C	T	198540166	3	4	38	1	0	0	0	0	1	0	0	0	13267	913	32	2	1524	2	RFTN2	2	198540166	Missense_Mutation	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09		198540166	44659207	3	2331											
IRS1	3667	genome.wustl.edu	37	chr2	227662435	227662435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggctgccgtccaccgaGgctgggcgggacatggtgcc	17	13	0	0	rs376825507		TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr2:227662435G>A	ENST00000305123.5	-	1	2040	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	340	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGTCCACCGAGGCTGGGCGGG	0.721											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000169047	G		2,4392		0,2,2195	50	55	53		1020	-1.3	0.9	2		53	4,8566		0,4,4281	no	coding-synonymous	IRS1	NM_005544.2		0,6,6476	AA,AG,GG		0.0467,0.0455,0.0463		340/1243	227662435	6,12958	2197	4285	6482	IRS1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1020C>T	2.37:g.227662435G>A		Somatic	0	73	0	2321	0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	61	19.74		Silent	SNP	30	0	0	34	17.07	7	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.A340	ENST00000305123.5	37	c.1020	CCDS2463.1	2																																																																																			-	NULL		0.721	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	protein_coding	OTTHUMT00000256886.3	G	NM_005544	-		227662435	-1	no_errors	ENST00000305123	ensembl	human	known	74_37	silent	SNP	0.951	A	A	227662435	G	A	227662435	2	1	38	1	0	0	0	0	0	0	0	1	7842	987	35	2		2	IRS1	2	227662435	Silent	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	29122269	227662435	15536938	4	2332											
SRGAP3	9901	genome.wustl.edu	37	chr3	9094835	9094835	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcgactgtgttggaaggcaTcggagacatcaaagtcctcc	11	10	1	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr3:9094835T>A	ENST00000383836.3	-	9	1626	c.1199A>T	c.(1198-1200)gAt>gTt	p.D400V	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.D400V	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	400	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTGGAAGGCATCGGAGACATC	0.512			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0								ENSG00000196220						152	124	134					3																	9094835		2203	4300	6503	SRGAP3	SO:0001583	missense	0			-	HGNC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1199A>T	3.37:g.9094835T>A	ENSP00000373347:p.Asp400Val	Somatic	0	63	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q8IX13|Q8IZV8	Missense_Mutation	SNP	29	0	0	33	0.00	0	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.D400V	ENST00000383836.3	37	c.1199	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507098	0.85282	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.52983	0.64;0.64	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	M	0.68952	2.095	0.80722	D	1	P;D;D	0.76494	0.948;0.999;0.998	P;D;D	0.83275	0.628;0.996;0.994	T	0.69658	-0.5086	10	0.59425	D	0.04	.	15.8164	0.78604	0.0:0.0:0.0:1.0	.	269;400;400	Q9ULR4;O43295-2;O43295	.;.;SRGP2_HUMAN	V	400;400;280	ENSP00000373347:D400V;ENSP00000353587:D400V	ENSP00000353587:D400V	D	-	2	0	SRGAP3	9069835	1.000000	0.71417	0.800000	0.32199	0.783000	0.44284	7.881000	0.87252	2.209000	0.71365	0.533000	0.62120	GAT	-	NULL		0.512	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	protein_coding	OTTHUMT00000207137.3	T		-		9094835	-1	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9094835	T	A	9094835	3	1	38	1	0	0	0	0	1	0	0	0	15154	1435	50	5	2191	5	SRGAP3	3	9094835	Missense_Mutation	SNP	T	TCGA-DX-A2J4-01A-32D-A21Q-09		9094835	188927595	5	2333											
NUP210	23225	genome.wustl.edu	37	chr3	13383510	13383510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcacaccaatgtaatgatCggggaggctgctcggagctt	12	10	1	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr3:13383510C>T	ENST00000254508.5	-	22	3160	c.3078G>A	c.(3076-3078)ccG>ccA	p.P1026P	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1026					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.P1026P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATGTAATGATCGGGGAGGCTG	0.567																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000132182						98	98	98					3																	13383510		2203	4300	6503	NUP210	SO:0001819	synonymous_variant	0			-	HGNC	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3078G>A	3.37:g.13383510C>T		Somatic	0	39	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	24	0	0	43	0.00	0	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.P1026	ENST00000254508.5	37	c.3078	CCDS33704.1	3																																																																																			-	NULL		0.567	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	protein_coding	OTTHUMT00000340085.1	C	NM_024923	-		13383510	-1	no_errors	ENST00000254508	ensembl	human	known	74_37	silent	SNP	1.000	T	T	13383510	C	T	13383510	2	4	38	1	0	0	0	0	0	0	0	1	10762	871	31	1		1	NUP210	3	13383510	Silent	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09	4288675	13383510	184638920	6	2334											
POU1F1	5449	genome.wustl.edu	37	chr3	87322591	87322591	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttcccaacgttgtcacCgagaaatgtgtgcacaaaca	9	10	1	1	rs189221434	byFrequency	TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr3:87322591C>A	ENST00000350375.2	-	2	267				POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Silent_p.S66S	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1						B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ACGTTGTCACCGAGAAATGTG	0.393																																																	0								ENSG00000064835						91	80	84					3																	87322591		2203	4300	6503	POU1F1	SO:0001627	intron_variant	0			-	HGNC	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.143-23G>T	3.37:g.87322591C>A		Somatic	0	122	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	68	29.17	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	37	0	0	53	11.67	7	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S66	ENST00000350375.2	37	c.198	CCDS2919.1	3																																																																																			-	NULL		0.393	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU1F1	protein_coding	OTTHUMT00000352827.1	C	NM_000306	-		87322591	-1	no_errors	ENST00000344265	ensembl	human	known	74_37	silent	SNP	0.997	A	A	87322591	C	A	87322591	1	1	38	0	1	0	0	0	0	0	0	0	12271	639	23	3		3	POU1F1	3	87322591	Intron	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09	73939081	87322591	110699839	7	2335											
HTT	3064	genome.wustl.edu	37	chr4	3137957	3137957	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttctctctaaagctttTaaaactgcaagaacgagtgc	6	10	2	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr4:3137957T>G	ENST00000355072.5	+	21	2847	c.2702T>G	c.(2701-2703)tTa>tGa	p.L901*		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	901					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAAAGCTTTTAAAACTGCAA	0.353																																																	0								ENSG00000197386						124	112	116					4																	3137957		1836	4083	5919	HTT	SO:0001587	stop_gained	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2702T>G	4.37:g.3137957T>G	ENSP00000347184:p.Leu901*	Somatic	0	61	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q9UQB7	Nonsense_Mutation	SNP	47	0	0	53	14.52	9	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L901*	ENST00000355072.5	37	c.2702	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	T	40	8.275135	0.98737	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9513	0.79840	0.0:0.0:0.0:1.0	.	.	.	.	X	901	.	ENSP00000347184:L901X	L	+	2	0	HTT	3107755	1.000000	0.71417	0.975000	0.42487	0.318000	0.28184	5.282000	0.65615	2.163000	0.67991	0.533000	0.62120	TTA	-	superfamily_ARM-type_fold		0.353	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	T	NM_002111	-		3137957	1	no_errors	ENST00000355072	ensembl	human	known	74_37	nonsense	SNP	0.996	G	G	3137957	T	G	3137957	4	3	38	1	0	0	0	0	0	1	0	0	7459	1764	61	5	2784	5	HTT	4	3137957	Nonsense_Mutation	SNP	T	TCGA-DX-A2J4-01A-32D-A21Q-09		3137957	188016319	8	2336											
BOD1L	259282	genome.wustl.edu	37	chr4	13582792	13582792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctacagggtatttgcgagGtcttcctcttttccttttaa	7	9	3	0			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr4:13582792G>T	ENST00000040738.5	-	20	8767	c.8632C>A	c.(8632-8634)Cct>Act	p.P2878T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2878						nucleus (GO:0005634)	DNA binding (GO:0003677)										TATTTGCGAGGTCTTCCTCTT	0.313																																																	0								ENSG00000038219						54	51	52					4																	13582792		2201	4295	6496	BOD1L1	SO:0001583	missense	0			-	HGNC	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.8632C>A	4.37:g.13582792G>T	ENSP00000040738:p.Pro2878Thr	Somatic	0	50	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	36	0	0	67	0.00	0	NULL	p.P2878T	ENST00000040738.5	37	c.8632	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071477	0.76301	.	.	ENSG00000038219	ENST00000040738	T	0.26810	1.71	5.52	5.52	0.82312	AT hook, DNA-binding motif (1);	0.000000	0.56097	D	0.000035	T	0.42899	0.1223	L	0.36672	1.1	0.49483	D	0.999794	D	0.89917	1.0	D	0.85130	0.997	T	0.26985	-1.0087	10	0.72032	D	0.01	-4.5195	16.5824	0.84717	0.0:0.0:1.0:0.0	.	2878	Q8NFC6	BOD1L_HUMAN	T	2878	ENSP00000040738:P2878T	ENSP00000040738:P2878T	P	-	1	0	BOD1L	13191890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.744000	0.68664	2.598000	0.87819	0.655000	0.94253	CCT	-	NULL		0.313	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	G	NM_148894	-		13582792	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13582792	G	T	13582792	3	4	38	1	0	0	0	0	1	0	0	0	1483	1261	44	3	551	3	BOD1L	4	13582792	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	10444835	13582792	177571484	9	2337											
AP3B1	8546	genome.wustl.edu	37	chr5	77411983	77412004	+	Frame_Shift_Del	DEL	CTTCCTCAGATTCAGAATAAAA	CTTCCTCAGATTCAGAATAAAA	-													actatcagaagagtcctcctCttcctcagattcagaataaa					rs370684531|rs377485358|rs113301033	byFrequency	TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	CTTCCTCAGATTCAGAATAAAA	CTTCCTCAGATTCAGAATAAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr5:77411983_77412004delCTTCCTCAGATTCAGAATAAAA	ENST00000255194.6	-	18	2198_2219	c.2023_2044delTTTTATTCTGAATCTGAGGAAG	c.(2023-2046)ttttattctgaatctgaggaagagfs	p.FYSESEEE675fs	AP3B1_ENST00000519295.1_Frame_Shift_Del_p.FYSESEEE626fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	675					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAGTCCTCCTCTTCCTCAGATTCAGAATAAAACTTCTTAGCA	0.329									Hermansky-Pudlak syndrome																																								0								ENSG00000132842																																			AP3B1	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8		HGNC	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2023_2044delTTTTATTCTGAATCTGAGGAAG	5.37:g.77411983_77412004delCTTCCTCAGATTCAGAATAAAA	ENSP00000255194:p.Phe675fs	Somatic					0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1				E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	45	0	0	42	4.55	2	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.F675fs	ENST00000255194.6	37	c.2044_2023	CCDS4041.1	5																																																																																			-	pirsf_AP3_beta		0.329	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	protein_coding	OTTHUMT00000225548.2	CTTCCTCAGATTCAGAATAAAA				77412004	-1	no_errors	ENST00000255194	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.980:1.000:1.000:0.994:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000	-	-	77412004	CTTCCTCAGATTCAGAATAAAA	-	77411983	7	5	38	1	0	1	0	1	0	0	0	0	744	922	32	0	1280	0	AP3B1	5	77411983	Frame_Shift_Del	DEL	CTTCCTCAGATTCAGAATAAAA	TCGA-DX-A2J4-01A-32D-A21Q-09		77411983	103503277	10	2338											
PCDH12	51294	genome.wustl.edu	37	chr5	141335435	141335435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgaggctgctggcattgGtgacattgacgaacagctgc	13	9	0	3			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr5:141335435G>T	ENST00000231484.3	-	1	3192	c.1982C>A	c.(1981-1983)aCc>aAc	p.T661N	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCATTGGTGACATTGAC	0.577																																																	0								ENSG00000113555						55	50	51					5																	141335435		2203	4300	6503	PCDH12	SO:0001583	missense	0			-	HGNC	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1982C>A	5.37:g.141335435G>T	ENSP00000231484:p.Thr661Asn	Somatic	0	30	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	30	0	0	49	0.00	0	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T661N	ENST00000231484.3	37	c.1982	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966166	0.34659	.	.	ENSG00000113555	ENST00000231484	T	0.48522	0.81	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.116191	0.56097	D	0.000024	T	0.54515	0.1863	L	0.58101	1.795	0.41498	D	0.988267	D	0.54601	0.967	P	0.52159	0.691	T	0.57183	-0.7855	10	0.62326	D	0.03	.	12.2273	0.54468	0.0:0.1708:0.8292:0.0	.	661	Q9NPG4	PCD12_HUMAN	N	661	ENSP00000231484:T661N	ENSP00000231484:T661N	T	-	2	0	PCDH12	141315619	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	4.092000	0.57707	2.802000	0.96397	0.655000	0.94253	ACC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	protein_coding	OTTHUMT00000251858.1	G	NM_016580	-		141335435	-1	no_errors	ENST00000231484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141335435	G	T	141335435	3	4	38	1	0	0	0	0	1	0	0	0	11512	1261	44	3	1588	3	PCDH12	5	141335435	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	63923452	141335435	39579825	11	2339											
ENPP5	59084	genome.wustl.edu	37	chr6	46129094	46129094	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataatggttgagctatttcaGcatgcatatcttgtaaggca	9	6	2	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr6:46129094G>C	ENST00000371383.2	-	5	1663	c.1403C>G	c.(1402-1404)gCt>gGt	p.A468G	ENPP5_ENST00000230565.3_Missense_Mutation_p.A468G					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AGCTATTTCAGCATGCATATC	0.328																																																	0								ENSG00000112796						45	43	44					6																	46129094		2203	4299	6502	ENPP5	SO:0001583	missense	0			-	HGNC	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1403C>G	6.37:g.46129094G>C	ENSP00000360436:p.Ala468Gly	Somatic	0	45	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00		Missense_Mutation	SNP	32	0	0	51	5.56	3	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A468G	ENST00000371383.2	37	c.1403	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480524	0.26598	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.74315	-0.83;-0.83	5.81	2.03	0.26663	.	2.478390	0.01605	N	0.022228	T	0.48519	0.1504	L	0.50333	1.59	0.23616	N	0.997283	B	0.06786	0.001	B	0.04013	0.001	T	0.10359	-1.0633	10	0.31617	T	0.26	-3.2242	6.6069	0.22729	0.1533:0.2759:0.5707:0.0	.	468	Q9UJA9	ENPP5_HUMAN	G	468	ENSP00000360436:A468G;ENSP00000230565:A468G	ENSP00000230565:A468G	A	-	2	0	ENPP5	46237053	0.610000	0.26983	0.995000	0.50966	0.918000	0.54935	1.053000	0.30442	0.095000	0.17434	-0.933000	0.02702	GCT	-	NULL		0.328	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	protein_coding	OTTHUMT00000040779.2	G		-		46129094	-1	no_errors	ENST00000230565	ensembl	human	known	74_37	missense	SNP	0.988	C	C	46129094	G	C	46129094	3	2	38	1	0	0	0	0	1	0	0	0	5135	971	34	4	34	4	ENPP5	6	46129094	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		46129094	124985973	12	2340											
CNOT4	4850	genome.wustl.edu	37	chr7	135078741	135078741	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtccaagaaattactatttGaggtggggtttgctgtgtgg	14	4	0	2			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr7:135078741G>T	ENST00000315544.5	-	10	1835	c.1556C>A	c.(1555-1557)tCa>tAa	p.S519*	CNOT4_ENST00000361528.4_Nonsense_Mutation_p.S516*|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000428680.2_Nonsense_Mutation_p.S516*|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.S519*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.S516*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.S519*	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	519					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTACTATTTGAGGTGGGGTT	0.468																																					Ovarian(51;766 1130 5502 35047 50875)												0								ENSG00000080802						51	56	55					7																	135078741		1955	4156	6111	CNOT4	SO:0001587	stop_gained	0			-	HGNC	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1556C>A	7.37:g.135078741G>T	ENSP00000326731:p.Ser519*	Somatic	0	72	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	57	9.52	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	23	0	0	48	0.00	0	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.S519*	ENST00000315544.5	37	c.1556	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.579009	0.98870	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	.	.	.	5.96	5.96	0.96718	.	0.061993	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8418	19.4101	0.94667	0.0:0.0:1.0:0.0	.	.	.	.	X	519;516;519;519;516;516;519	.	ENSP00000262563:S519X	S	-	2	0	CNOT4	134729281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	TCA	-	NULL		0.468	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	protein_coding		G	NM_013316	-		135078741	-1	no_errors	ENST00000541284	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	135078741	G	T	135078741	4	4	38	1	0	0	0	0	0	1	0	0	3623	1294	45	3	485	3	CNOT4	7	135078741	Nonsense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		135078741	24059922	13	2341											
KIAA1462	57608	genome.wustl.edu	37	chr10	30315983	30315983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttagacagggacagtgggaGccctgcccccctctctccac	11	16	1	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr10:30315983G>T	ENST00000375377.1	-	3	3195	c.3094C>A	c.(3094-3096)Ctc>Atc	p.L1032I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1032					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACAGTGGGAGCCCTGCCCCC	0.582																																																	0								ENSG00000165757						93	94	94					10																	30315983		1898	4104	6002	KIAA1462	SO:0001583	missense	0			-	HGNC	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3094C>A	10.37:g.30315983G>T	ENSP00000364526:p.Leu1032Ile	Somatic	0	24	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	16.67	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	23	0	0	46	0.00	0	NULL	p.L1032I	ENST00000375377.1	37	c.3094	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	8.529	0.870641	0.17322	.	.	ENSG00000165757	ENST00000375377	T	0.12039	2.72	4.83	0.421	0.16451	.	1.285910	0.05103	N	0.487426	T	0.11324	0.0276	L	0.44542	1.39	0.09310	N	1	B	0.24426	0.103	B	0.18561	0.022	T	0.34179	-0.9839	10	0.30854	T	0.27	-1.2986	3.1634	0.06528	0.1357:0.3162:0.3954:0.1527	.	1032	Q9P266	K1462_HUMAN	I	1032	ENSP00000364526:L1032I	ENSP00000364526:L1032I	L	-	1	0	KIAA1462	30355989	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	0.215000	0.17562	-0.127000	0.11661	0.563000	0.77884	CTC	-	NULL		0.582	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	protein_coding	OTTHUMT00000047409.1	G	NM_020848	-		30315983	-1	no_errors	ENST00000375377	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30315983	G	T	30315983	3	4	38	1	0	0	0	0	1	0	0	0	8236	971	34	3	993	3	KIAA1462	10	30315983	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		30315983	105218764	14	2342											
TAF6L	10629	genome.wustl.edu	37	chr11	62545600	62545600	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgagacagctgtcagaGgtggctgccggggtcctgca	17	10	1	2			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr11:62545600G>A	ENST00000294168.3	+	4	586	c.385G>A	c.(385-387)Gtt>Att	p.V129I	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	129					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCTGTCAGAGGTGGCTGCCG	0.602																																																	0								ENSG00000162227						52	48	49					11																	62545600		2201	4299	6500	TAF6L	SO:0001630	splice_region_variant	0			-	HGNC	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.385+1G>A	11.37:g.62545600G>A		Somatic	0	71	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	75	17.58	B2RAT0|Q96HA6	Missense_Mutation	SNP	23	0	0	33	19.51	8	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.V129I	ENST00000294168.3	37	c.385	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.145363	0.94603	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.47528	0.84;0.92	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.56790	0.2009	L	0.50333	1.59	0.80722	D	1	D;D	0.63880	0.982;0.993	P;P	0.55923	0.479;0.787	T	0.53070	-0.8490	10	0.40728	T	0.16	-0.4222	15.3007	0.73949	0.0:0.0:1.0:0.0	.	129;129	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	I	129	ENSP00000294168:V129I;ENSP00000434662:V129I	ENSP00000294168:V129I	V	+	1	0	TAF6L	62302176	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.661000	0.91125	2.687000	0.91594	0.462000	0.41574	GTT	-	NULL		0.602	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	protein_coding	OTTHUMT00000395352.1	G	NM_006473	-	Missense_Mutation	62545600	1	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62545600	G	A	62545600	5	1	38	1	0	0	0	0	0	0	1	0	15538	1014	35	2	395	2	TAF6L	11	62545600	Splice_Site	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		62545600	72460916	15	2343											
LARP4	113251	genome.wustl.edu	37	chr12	50855098	50855098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagacttccactttgcaGgtggaacagaatggggacta	13	7	0	2			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:50855098G>T	ENST00000398473.2	+	11	1414	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	LARP4_ENST00000518444.1_Missense_Mutation_p.Q433H|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000522085.1_Missense_Mutation_p.Q434H|LARP4_ENST00000347328.5_Missense_Mutation_p.Q363H|LARP4_ENST00000429001.3_Missense_Mutation_p.Q440H|LARP4_ENST00000518561.1_Missense_Mutation_p.Q364H	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	434					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCACTTTGCAGGTGGAACAGA	0.413																																																	0								ENSG00000161813						87	81	83					12																	50855098		1874	4100	5974	LARP4	SO:0001583	missense	0			-	HGNC	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1302G>T	12.37:g.50855098G>T	ENSP00000381490:p.Gln434His	Somatic	0	34	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	37	0	0	60	0.00	0	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.Q440H	ENST00000398473.2	37	c.1320	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842491	0.16963	.	.	ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T	0.49432	1.48;1.48;0.78;1.48;0.78;1.48	4.37	3.3	0.37823	.	0.345183	0.30752	N	0.008944	T	0.34250	0.0891	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B	0.22146	0.065;0.003;0.046;0.003;0.002	B;B;B;B;B	0.21917	0.037;0.007;0.013;0.004;0.004	T	0.13335	-1.0513	10	0.44086	T	0.13	.	6.8529	0.24024	0.1201:0.1655:0.7144:0.0	.	335;433;363;434;440	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	H	440;434;434;433;364;335;363	ENSP00000415464:Q440H;ENSP00000381490:Q434H;ENSP00000429781:Q434H;ENSP00000429077:Q433H;ENSP00000430851:Q364H;ENSP00000340901:Q363H	ENSP00000340901:Q363H	Q	+	3	2	LARP4	49141365	1.000000	0.71417	0.993000	0.49108	0.559000	0.35586	2.047000	0.41269	0.889000	0.36185	0.462000	0.41574	CAG	-	NULL		0.413	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	protein_coding	OTTHUMT00000374981.1	G	NM_052879	-		50855098	1	no_errors	ENST00000429001	ensembl	human	known	74_37	missense	SNP	0.980	T	T	50855098	G	T	50855098	3	4	38	1	0	0	0	0	1	0	0	0	8632	991	35	3	1344	3	LARP4	12	50855098	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		50855098	82996797	16	2344											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58024808	58024808	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacttccacaccctgtaGggggtactggagcggggagt	15	10	0	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:58024808G>C	ENST00000341156.4	-	4	1029	c.445C>G	c.(445-447)Cta>Gta	p.L149V	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.L149V|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.L149V|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.L149V|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.L94V	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	149					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)			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)			ACACCCTGTAGGGGGTACTGG	0.647																																																	0								ENSG00000135454						41	43	42					12																	58024808		2203	4300	6503	B4GALNT1	SO:0001583	missense	0			-	HGNC	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.445C>G	12.37:g.58024808G>C	ENSP00000341562:p.Leu149Val	Somatic	0	20	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	260	20.18	B4DE26|Q8N636	Missense_Mutation	SNP	35	0	0	501	20.48	129	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.L149V	ENST00000341156.4	37	c.445	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	2.007	-0.428109	0.04701	.	.	ENSG00000135454	ENST00000341156;ENST00000418555;ENST00000550764;ENST00000552350;ENST00000548888	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	4.76	3.86	0.44501	.	0.135630	0.48286	D	0.000186	T	0.14960	0.0361	N	0.16567	0.415	0.32800	D	0.500028	P;P;B;B	0.46859	0.885;0.817;0.2;0.001	P;B;B;B	0.48189	0.57;0.23;0.051;0.003	T	0.13791	-1.0496	10	0.08179	T	0.78	-0.6081	3.8168	0.08818	0.0901:0.16:0.585:0.1649	.	149;94;149;149	B4DSP5;B4DE26;Q8N636;Q00973	.;.;.;B4GN1_HUMAN	V	149;94;149;149;149	ENSP00000341562:L149V;ENSP00000401601:L94V;ENSP00000450303:L149V;ENSP00000448500:L149V;ENSP00000447945:L149V	ENSP00000341562:L149V	L	-	1	2	B4GALNT1	56311075	0.983000	0.35010	0.999000	0.59377	0.919000	0.55068	2.005000	0.40864	1.194000	0.43101	0.609000	0.83330	CTA	-	pirsf_GM2_synthase		0.647	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	-		58024808	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	SNP	0.988	C	C	58024808	G	C	58024808	3	2	38	1	0	0	0	0	1	0	0	0	1266	991	35	4	1188	4	B4GALNT1	12	58024808	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	7169710	58024808	75827087	17	2345			1	21		4	4	307	G		5.22185e-12
B4GALNT1	2583	genome.wustl.edu	37	chr12	58025075	58025075	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggtgaggtcaatagctcgGacttgtttctggaaggggag	16	5	2	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:58025075G>T	ENST00000341156.4	-	3	875	c.291C>A	c.(289-291)gtC>gtA	p.V97V	B4GALNT1_ENST00000449184.3_Silent_p.V97V|B4GALNT1_ENST00000550764.1_Silent_p.V97V|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000552350.1_Silent_p.V97V|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	97					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)			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)			CAATAGCTCGGACTTGTTTCT	0.597																																																	0								ENSG00000135454						108	118	114					12																	58025075		2203	4300	6503	B4GALNT1	SO:0001819	synonymous_variant	0			-	HGNC	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.291C>A	12.37:g.58025075G>T		Somatic	0	28	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	321	16.84	B4DE26|Q8N636	Silent	SNP	35	0	0	450	20.46	116	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.V97	ENST00000341156.4	37	c.291	CCDS8950.1	12																																																																																			-	pirsf_GM2_synthase		0.597	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	-		58025075	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	silent	SNP	0.533	T	T	58025075	G	T	58025075	2	4	38	1	0	0	0	0	0	0	0	1	1266	1161	41	3		3	B4GALNT1	12	58025075	Silent	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	267	58025075	75826820	18	2346			1	21		4	4	307	G		5.22185e-12
B4GALNT1	2583	genome.wustl.edu	37	chr12	58025099	58025099	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtttctggaaggggaggggGaggccccccccactggactc	16	12	1	0			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:58025099G>T	ENST00000341156.4	-	3	851	c.267C>A	c.(265-267)ctC>ctA	p.L89L	B4GALNT1_ENST00000449184.3_Silent_p.L89L|B4GALNT1_ENST00000550764.1_Silent_p.L89L|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000552350.1_Silent_p.L89L|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	89					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)			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)			AGGGGAGGGGGAGGCCCCCCC	0.592																																																	0								ENSG00000135454						79	90	86					12																	58025099		2203	4300	6503	B4GALNT1	SO:0001819	synonymous_variant	0			-	HGNC	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.267C>A	12.37:g.58025099G>T		Somatic	0	24	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	312	15.63	B4DE26|Q8N636	Silent	SNP	32	0	0	425	21.88	119	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.L89	ENST00000341156.4	37	c.267	CCDS8950.1	12																																																																																			-	pirsf_GM2_synthase		0.592	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	-		58025099	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	silent	SNP	0.000	T	T	58025099	G	T	58025099	2	4	38	1	0	0	0	0	0	0	0	1	1266	1161	41	3		3	B4GALNT1	12	58025099	Silent	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	24	58025099	75826796	19	2347			1	21		4	4	307	G		5.22185e-12
B4GALNT1	2583	genome.wustl.edu	37	chr12	58025114	58025114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggaggccccccccactGgactcacaactgcagttgtt	12	14	1	0			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:58025114G>A	ENST00000341156.4	-	3	836	c.252C>T	c.(250-252)tcC>tcT	p.S84S	B4GALNT1_ENST00000449184.3_Silent_p.S84S|B4GALNT1_ENST00000550764.1_Silent_p.S84S|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000552350.1_Silent_p.S84S|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	84					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)			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)			CCCCCCCACTGGACTCACAAC	0.577																																																	0								ENSG00000135454						64	74	70					12																	58025114		2203	4300	6503	B4GALNT1	SO:0001819	synonymous_variant	0			-	HGNC	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.252C>T	12.37:g.58025114G>A		Somatic	0	24	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	310	15.53	B4DE26|Q8N636	Silent	SNP	34	0	0	432	21.17	116	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.S84	ENST00000341156.4	37	c.252	CCDS8950.1	12																																																																																			-	pirsf_GM2_synthase		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	-		58025114	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	silent	SNP	0.981	A	A	58025114	G	A	58025114	2	1	38	1	0	0	0	0	0	0	0	1	1266	1335	47	2		2	B4GALNT1	12	58025114	Silent	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	15	58025114	75826781	20	2348			1	21		4	4	307	G		5.22185e-12
SRGAP1	57522	genome.wustl.edu	37	chr12	64377909	64377909	+	Missense_Mutation	SNP	C	C	T													aaacaagaagcactaaggatCatcaacaatacaagtaagag							TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:64377909C>T	ENST00000355086.3	+	2	774	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	SRGAP1_ENST00000543397.1_Missense_Mutation_p.H44Y|SRGAP1_ENST00000357825.3_Missense_Mutation_p.H84Y	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	84	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.H84Y(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACTAAGGATCATCAACAATA	0.353																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000196935						85	80	82					12																	64377909		2203	4300	6503	SRGAP1	SO:0001583	missense	0			-	HGNC	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.250C>T	12.37:g.64377909C>T	ENSP00000347198:p.His84Tyr	Somatic	0	23	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	18	78.57	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	28	0	0	40	86.35	253	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.H84Y	ENST00000355086.3	37	c.250	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327844	0.81690	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.15718	2.4;2.4;2.4	5.03	5.03	0.67393	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.36234	U	0.002706	T	0.35189	0.0923	M	0.62723	1.935	0.80722	D	1	D;D;D	0.59767	0.985;0.986;0.986	P;P;P	0.57152	0.756;0.743;0.814	T	0.02844	-1.1103	9	.	.	.	.	18.7352	0.91751	0.0:1.0:0.0:0.0	.	84;44;84	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Y	84;84;44	ENSP00000347198:H84Y;ENSP00000350480:H84Y;ENSP00000437948:H44Y	.	H	+	1	0	SRGAP1	62664176	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.755000	0.85180	2.494000	0.84150	0.650000	0.86243	CAT	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom		0.353	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	protein_coding	OTTHUMT00000400896.1	C		-		64377909	1	no_errors	ENST00000355086	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64377909	C	T	64377909	3	4	38	1	0	0	0	0	1	0	0	0	15152	826	29	2	256	2	SRGAP1	12	64377909	Missense_Mutation	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09	6352795	64377909	69473986	21	2349	34	2									
SRGAP1	57522	genome.wustl.edu	37	chr12	64377912	64377912	+	Nonsense_Mutation	SNP	C	C	T													caagaagcactaaggatcatCaacaatacaagtaagagatt							TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr12:64377912C>T	ENST00000355086.3	+	2	777	c.253C>T	c.(253-255)Caa>Taa	p.Q85*	SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.Q45*|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.Q85*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	85	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TAAGGATCATCAACAATACAA	0.353																																																	0								ENSG00000196935						82	78	79					12																	64377912		2203	4300	6503	SRGAP1	SO:0001587	stop_gained	0			-	HGNC	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.253C>T	12.37:g.64377912C>T	ENSP00000347198:p.Gln85*	Somatic	0	22	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	18	78.05	Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	25	0	0	39	86.16	249	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q85*	ENST00000355086.3	37	c.253	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	50	16.726747	0.99870	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	.	.	.	5.16	5.16	0.70880	.	0.000000	0.33792	U	0.004556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0307	0.92955	0.0:1.0:0.0:0.0	.	.	.	.	X	85;85;45	.	.	Q	+	1	0	SRGAP1	62664179	1.000000	0.71417	0.993000	0.49108	0.785000	0.44390	7.737000	0.84957	2.566000	0.86566	0.650000	0.86243	CAA	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom		0.353	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	protein_coding	OTTHUMT00000400896.1	C		-		64377912	1	no_errors	ENST00000355086	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	64377912	C	T	64377912	4	4	38	1	0	0	0	0	0	1	0	0	15152	827	29	2	259	2	SRGAP1	12	64377912	Nonsense_Mutation	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09	3	64377912	69473983	22	2350	34	2									
NIN	51199	genome.wustl.edu	37	chr14	51225301	51225301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaatcagactgaaactggGcttctatttgagaggttctt	10	7	3	3			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr14:51225301G>T	ENST00000382041.3	-	18	2637	c.2447C>A	c.(2446-2448)gCc>gAc	p.A816D	NIN_ENST00000324330.9_Missense_Mutation_p.A816D|NIN_ENST00000245441.5_Missense_Mutation_p.A816D|NIN_ENST00000530997.2_Missense_Mutation_p.A816D|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.A816D|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	816					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)					CTGAAACTGGGCTTCTATTTG	0.463			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								ENSG00000100503						49	51	50					14																	51225301		2203	4300	6503	NIN	SO:0001583	missense	0			-	HGNC	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.2447C>A	14.37:g.51225301G>T	ENSP00000371472:p.Ala816Asp	Somatic	0	40	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	33	0	0	44	0.00	0	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.A816D	ENST00000382041.3	37	c.2447	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.85|15.85	2.955976|2.955976	0.53293|0.53293	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|T	0.08546|0.25250	3.35;3.09;3.08;3.09|1.81	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.551711|.	0.20707|.	N|.	0.087172|.	T|T	0.38108|0.38108	0.1028|0.1028	M|M	0.67953|0.67953	2.075|2.075	0.32316|0.32316	N|N	0.563097|0.563097	D;D;D;D|.	0.89917|.	0.998;0.997;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.948;0.944;0.999;0.998|.	T|T	0.49234|0.49234	-0.8961|-0.8961	10|6	0.31617|.	T|.	0.26|.	-10.0443|-10.0443	9.8432|9.8432	0.41010|0.41010	0.0737:0.1407:0.7856:0.0|0.0737:0.1407:0.7856:0.0	.|.	822;816;816;816|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	D|R	816;799;822;816;816;816|306	ENSP00000245441:A816D;ENSP00000371472:A816D;ENSP00000324210:A816D;ENSP00000412391:A816D|ENSP00000436092:S306R	ENSP00000245441:A816D|.	A|S	-|-	2|3	0|2	NIN|NIN	50295051|50295051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.429000|3.429000	0.52800|0.52800	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	GCC|AGC	-	NULL		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	protein_coding	OTTHUMT00000395207.2	G	NM_182946	-		51225301	-1	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51225301	G	T	51225301	3	4	38	1	0	0	0	0	1	0	0	0	10419	1203	42	3	4158	3	NIN	14	51225301	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		51225301	56124239	23	2351											
RCOR1	23186	genome.wustl.edu	37	chr14	103173719	103173719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctggcataaacataAtatcgaaaagtcattggctg	8	8	3	0			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr14:103173719A>G	ENST00000570597.1	+	5	521	c.521A>G	c.(520-522)aAt>aGt	p.N174S	RCOR1_ENST00000262241.6_Missense_Mutation_p.N177S			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	174	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CATAAACATAATATCGAAAAG	0.358																																																	0								ENSG00000089902						135	134	134					14																	103173719		2203	4300	6503	RCOR1	SO:0001583	missense	0			-	HGNC	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.521A>G	14.37:g.103173719A>G	ENSP00000459789:p.Asn174Ser	Somatic	0	60	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	22	0	0	43	23.21	13	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1	p.N177S	ENST00000570597.1	37	c.530		14	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386572	0.82902	.	.	ENSG00000089902	ENST00000262241	.	.	.	4.98	4.98	0.66077	ELM2 domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.78360	-0.2234	9	0.54805	T	0.06	-29.9048	14.9728	0.71246	1.0:0.0:0.0:0.0	.	174	Q9UKL0	RCOR1_HUMAN	S	174	.	ENSP00000262241:N174S	N	+	2	0	RCOR1	102243472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.255000	0.95524	2.007000	0.58848	0.533000	0.62120	AAT	-	superfamily_Homeodomain-like,pfscan_ELM2_dom		0.358	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	protein_coding		A	NM_015156	-		103173719	1	no_errors	ENST00000262241	ensembl	human	known	74_37	missense	SNP	1.000	G	G	103173719	A	G	103173719	3	3	38	1	0	0	0	0	1	0	0	0	13190	101	4	5	539	5	RCOR1	14	103173719	Missense_Mutation	SNP	A	TCGA-DX-A2J4-01A-32D-A21Q-09	51948418	103173719	4175821	24	2352											
FAM98B	283742	genome.wustl.edu	37	chr15	38776810	38776810	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatccatatggaggaggtGgtggtggtggtggtggtggt	22	2	0	1	rs201831942		TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr15:38776810G>T	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Missense_Mutation_p.G418C	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TGGAGGAggtggtggtggtgg	0.468																																																	0								ENSG00000171262						24	23	24					15																	38776810		1555	3441	4996	FAM98B	SO:0001628	intergenic_variant	0			-	HGNC		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776810G>T		Somatic	0	18	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A8MUW5|Q8N935	Missense_Mutation	SNP	6	0	0	20	0.00	0	pfam_Uncharacterised_FAM98	p.G418C	ENST00000491535.1	37	c.1252	CCDS42015.1	15	.	.	.	.	.	.	.	.	.	.	G	5.335	0.247127	0.10130	.	.	ENSG00000171262	ENST00000397609	T	0.49432	0.78	1.64	1.64	0.23874	.	0.000000	0.46145	U	0.000305	T	0.51449	0.1675	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	P	0.60286	0.872	T	0.51926	-0.8643	10	0.87932	D	0	.	7.0617	0.25129	0.0:0.286:0.714:0.0	.	418	A8MUW5	.	C	418	ENSP00000380734:G418C	ENSP00000380734:G418C	G	+	1	0	FAM98B	36564102	0.952000	0.32445	0.920000	0.36463	0.923000	0.55619	3.168000	0.50801	0.861000	0.35504	0.557000	0.71058	GGT	-	NULL		0.468	FAM98B-002	KNOWN	basic|CCDS	protein_coding	FAM98B	protein_coding	OTTHUMT00000252071.2	G	NM_173611	-		38776810	1	no_errors	ENST00000397609	ensembl	human	known	74_37	missense	SNP	0.959	T	T	38776810	G	T	38776810	1	4	38	0	1	0	0	0	0	0	0	0	5659	1348	47	3		3	FAM98B	15	38776810	IGR	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		38776810	63754582	25	2353											
CACNB1	782	genome.wustl.edu	37	chr17	37351189	37351189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggacgtgctcccatctgacCgtttgaatcgccctttcctc	8	15	1	2			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr17:37351189C>G	ENST00000394303.3	-	2	326	c.119G>C	c.(118-120)cGg>cCg	p.R40P	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.R40P|CACNB1_ENST00000344140.5_Missense_Mutation_p.R40P	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	40					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCATCTGACCGTTTGAATCG	0.562																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0								ENSG00000067191						206	134	158					17																	37351189		2203	4300	6503	CACNB1	SO:0001583	missense	0			-	HGNC		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.119G>C	17.37:g.37351189C>G	ENSP00000377840:p.Arg40Pro	Somatic	0	85	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	69	16.87	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	26	0	0	33	15.38	6	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.R40P	ENST00000394303.3	37	c.119	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042210	0.93685	.	.	ENSG00000067191	ENST00000394303;ENST00000344140;ENST00000394310	T;T;T	0.79554	-1.28;-1.28;-1.27	5.79	5.79	0.91817	.	0.112694	0.64402	D	0.000010	D	0.87269	0.6135	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.91635	0.995;0.999;0.991;0.995	D	0.87116	0.2188	10	0.56958	D	0.05	-8.6998	16.9575	0.86263	0.0:1.0:0.0:0.0	.	40;40;40;40	Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;CACB1_HUMAN	P	40	ENSP00000377840:R40P;ENSP00000345461:R40P;ENSP00000377847:R40P	ENSP00000345461:R40P	R	-	2	0	CACNB1	34604715	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.846000	0.75399	2.746000	0.94184	0.561000	0.74099	CGG	-	NULL		0.562	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	protein_coding	OTTHUMT00000256945.3	C		-		37351189	-1	no_errors	ENST00000394303	ensembl	human	known	74_37	missense	SNP	1.000	G	G	37351189	C	G	37351189	3	3	38	1	0	0	0	0	1	0	0	0	2554	652	23	4	1993	4	CACNB1	17	37351189	Missense_Mutation	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09		37351189	43844021	26	2354											
BAIAP2	10458	genome.wustl.edu	37	chr17	79060381	79060381	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcggacaaggagctgcagGtaggcccgccacccccgctg	13	16	0	0			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr17:79060381G>T	ENST00000321300.6	+	6	582		c.e6+1		BAIAP2_ENST00000573894.1_Splice_Site|BAIAP2_ENST00000435091.3_Splice_Site|BAIAP2_ENST00000575712.1_Splice_Site|BAIAP2_ENST00000575245.1_Splice_Site|BAIAP2_ENST00000428708.2_Splice_Site|BAIAP2_ENST00000321280.7_Splice_Site|BAIAP2_ENST00000392411.3_Splice_Site	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGAGCTGCAGGTAGGCCCGCC	0.647																																																	0								ENSG00000175866						64	69	67					17																	79060381		2203	4300	6503	BAIAP2	SO:0001630	splice_region_variant	0			-	HGNC	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.489+1G>T	17.37:g.79060381G>T		Somatic	0	28	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Splice_Site	SNP	28	0	0	40	0.00	0	-	e6+1	ENST00000321300.6	37	c.489+1	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749214	0.49257	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8461	0.78890	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP2	76674976	1.000000	0.71417	0.989000	0.46669	0.526000	0.34562	7.221000	0.78016	1.928000	0.55862	0.561000	0.74099	.	-	-		0.647	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	protein_coding	OTTHUMT00000438553.1	G		-	Intron	79060381	1	no_errors	ENST00000321300	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	79060381	G	T	79060381	5	4	38	1	0	0	0	0	0	0	1	0	1301	1275	44	3	512	3	BAIAP2	17	79060381	Splice_Site	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	41709192	79060381	2134829	27	2355											
SMCHD1	23347	genome.wustl.edu	37	chr18	2795948	2795948	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatttggtttctttacagaTcttcttcagcagtatcgttc	7	9	4	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr18:2795948T>A	ENST00000320876.6	+	46	6059	c.5721T>A	c.(5719-5721)gaT>gaA	p.D1907E	RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1907					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						TCTTTACAGATCTTCTTCAGC	0.368																																																	0								ENSG00000101596						45	39	41					18																	2795948		1873	4092	5965	SMCHD1	SO:0001630	splice_region_variant	0			-	HGNC	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.5720-1T>A	18.37:g.2795948T>A		Somatic	0	42	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	30	0	0	40	13.04	6	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge	p.D1907E	ENST00000320876.6	37	c.5721	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	T	5.134	0.210272	0.09757	.	.	ENSG00000101596	ENST00000320876	T	0.21361	2.01	5.42	-3.03	0.05429	.	.	.	.	.	T	0.11537	0.0281	L	0.39633	1.23	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25117	-1.0141	9	0.24483	T	0.36	.	1.5981	0.02668	0.1122:0.2046:0.2581:0.4252	.	1907	A6NHR9	SMHD1_HUMAN	E	1907	ENSP00000326603:D1907E	ENSP00000326603:D1907E	D	+	3	2	SMCHD1	2785948	0.993000	0.37304	0.967000	0.41034	0.902000	0.53008	0.011000	0.13264	-0.723000	0.04915	-1.417000	0.01113	GAT	-	NULL		0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	protein_coding	OTTHUMT00000441082.2	T		-	Missense_Mutation	2795948	1	no_errors	ENST00000320876	ensembl	human	known	74_37	missense	SNP	0.995	A	A	2795948	T	A	2795948	5	1	38	1	0	0	0	0	0	0	1	0	14796	1449	50	5	5903	5	SMCHD1	18	2795948	Splice_Site	SNP	T	TCGA-DX-A2J4-01A-32D-A21Q-09		2795948	75281300	28	2356											
POTEC	388468	genome.wustl.edu	37	chr18	14542900	14542900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtcatggtctccagaAgtgcccacgttgctcgtgcc	12	12	2	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr18:14542900A>G	ENST00000358970.5	-	1	245	c.246T>C	c.(244-246)acT>acC	p.T82T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	82										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGTCTCCAGAAGTGCCCACGT	0.582																																																	0								ENSG00000183206						42	49	47					18																	14542900		692	1591	2283	POTEC	SO:0001819	synonymous_variant	0			-	HGNC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.246T>C	18.37:g.14542900A>G		Somatic	0	435	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	398	314	55.82		Silent	SNP	32	0	0	65	54.86	79	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T82	ENST00000358970.5	37	c.246	CCDS45835.1	18																																																																																			-	NULL		0.582	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	protein_coding	OTTHUMT00000371179.1	A	XM_496269	-		14542900	-1	no_errors	ENST00000358970	ensembl	human	known	74_37	silent	SNP	0.015	G	G	14542900	A	G	14542900	2	3	38	1	0	0	0	0	0	0	0	1	12264	59	3	5		5	POTEC	18	14542900	Silent	SNP	A	TCGA-DX-A2J4-01A-32D-A21Q-09	11746952	14542900	63534348	29	2357											
GNRH2	2797	genome.wustl.edu	37	chr20	3026346	3026350	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-													ccgcagaccgcagcccgagaGccccgccccgccccgccatc					rs377041343|rs67749149		TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	GCCCC	GCCCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr20:3026346_3026350delGCCCC	ENST00000245983.2	+	4	378_382	c.327_331delGCCCC	c.(325-333)gagccccgcfs	p.PR110fs	GNRH2_ENST00000359100.2_Frame_Shift_Del_p.PR103fs|GNRH2_ENST00000359987.1_Frame_Shift_Del_p.PR102fs|GNRH2_ENST00000380347.2_Frame_Shift_Del_p.PR103fs|GNRH2_ENST00000380346.2_Frame_Shift_Del_p.PR102fs|MRPS26_ENST00000380325.3_5'Flank	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	110					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						CAGCCCGAGAGCCCCGCCCCGCCCC	0.634																																																	0								ENSG00000125787		,,	4,204,4048		0,0,4,15,174,1935					,,	-2	0		dbSNP_130	50	46,851,7353		2,8,34,78,687,3316	no	codingComplex,codingComplex,codingComplex	GNRH2	NM_178332.1,NM_178331.1,NM_001501.1	,,	2,8,38,93,861,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		10.8727,4.8872,8.8358	,,	,,		50,1055,11401				GNRH2	SO:0001589	frameshift_variant	0				HGNC	AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"Endogenous ligands"	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.327_331delGCCCC	20.37:g.3026356_3026360delGCCCC	ENSP00000245983:p.Pro110fs	Somatic					0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q14C68|Q14C69|Q9BYN9|Q9BYP0	Frame_Shift_Del	DEL	21	0	0	29	0.00	0	pfam_GnRH	p.A113fs	ENST00000245983.2	37	c.327_331	CCDS13040.1	20																																																																																			-	NULL		0.634	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNRH2	protein_coding	OTTHUMT00000077694.2	GCCCC	NM_001501			3026350	1	no_errors	ENST00000245983	ensembl	human	known	74_37	frame_shift_del	DEL	0.024:0.007:0.002:0.001:0.000	-	-	3026350	GCCCC	-	3026346	7	5	38	1	0	1	0	1	0	0	0	0	6550	962	34	0	337	0	GNRH2	20	3026346	Frame_Shift_Del	DEL	GCCCC	TCGA-DX-A2J4-01A-32D-A21Q-09		3026346	59999174	30	2358											
ESF1	51575	genome.wustl.edu	37	chr20	13753207	13753207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatacttaatagctctactgGtccttgaacttgctcttcct	5	11	2	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr20:13753207G>T	ENST00000202816.1	-	5	1311	c.1204C>A	c.(1204-1206)Cca>Aca	p.P402T		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AGCTCTACTGGTCCTTGAACT	0.328																																																	0								ENSG00000089048						184	177	179					20																	13753207		2203	4300	6503	ESF1	SO:0001583	missense	0			-	HGNC		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1204C>A	20.37:g.13753207G>T	ENSP00000202816:p.Pro402Thr	Somatic	0	47	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	35	0	0	54	0.00	0	pfam_NUC153	p.P402T	ENST00000202816.1	37	c.1204	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709453	0.89018	.	.	ENSG00000089048	ENST00000202816	T	0.77098	-1.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91385	0.7282	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92789	0.6247	10	0.87932	D	0	3.3625	19.8105	0.96544	0.0:0.0:1.0:0.0	.	402	Q9H501	ESF1_HUMAN	T	402	ENSP00000202816:P402T	ENSP00000202816:P402T	P	-	1	0	ESF1	13701207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.966000	0.93397	2.755000	0.94549	0.650000	0.86243	CCA	-	NULL		0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	protein_coding	OTTHUMT00000078049.1	G	NM_016649	-		13753207	-1	no_errors	ENST00000202816	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13753207	G	T	13753207	3	4	38	1	0	0	0	0	1	0	0	0	5253	1261	44	3	1391	3	ESF1	20	13753207	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09	10726861	13753207	49272313	31	2359											
EPB41L1	2036	genome.wustl.edu	37	chr20	34797668	34797668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgcagcctgcctgagCtcgaccgggacaaaagcgac	11	16	1	1			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr20:34797668C>T	ENST00000338074.2	+	15	2088	c.1927C>T	c.(1927-1929)Ctc>Ttc	p.L643F	EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L569F|EPB41L1_ENST00000373950.2_Missense_Mutation_p.L534F|EPB41L1_ENST00000373941.1_Missense_Mutation_p.L643F|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L569F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	643					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTGCCTGAGCTCGACCGGGA	0.612																																																	0								ENSG00000088367						62	54	57					20																	34797668		2203	4300	6503	EPB41L1	SO:0001583	missense	0			-	HGNC	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1927C>T	20.37:g.34797668C>T	ENSP00000337168:p.Leu643Phe	Somatic	0	28	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	21	0	0	29	17.14	6	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.L643F	ENST00000338074.2	37	c.1927	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791357	0.70452	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.91237	-2.81;-2.73;-2.81;-2.68;-2.68	5.87	4.92	0.64577	.	0.057628	0.64402	D	0.000002	D	0.92257	0.7544	L	0.36672	1.1	0.40977	D	0.984744	D;D;D;D;D;D	0.89917	0.999;1.0;0.997;0.992;0.997;0.992	D;D;D;D;P;P	0.85130	0.946;0.997;0.927;0.914;0.852;0.876	D	0.92095	0.5683	10	0.56958	D	0.05	-7.9001	13.8848	0.63702	0.0:0.9272:0.0:0.0728	.	643;932;643;534;534;569	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	F	569;534;643;534;569;932;643;643	ENSP00000202028:L569F;ENSP00000363061:L534F;ENSP00000399214:L569F;ENSP00000337168:L643F;ENSP00000363052:L643F	ENSP00000202028:L569F	L	+	1	0	EPB41L1	34261082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.638000	0.46562	2.941000	0.99782	0.655000	0.94253	CTC	-	pirsf_Band_41_protein		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	protein_coding	OTTHUMT00000078978.3	C	NM_012156	-		34797668	1	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34797668	C	T	34797668	3	4	38	1	0	0	0	0	1	0	0	0	5154	797	28	2	1981	2	EPB41L1	20	34797668	Missense_Mutation	SNP	C	TCGA-DX-A2J4-01A-32D-A21Q-09	21044461	34797668	28227852	32	2360											
TMPRSS2	7113	genome.wustl.edu	37	chr21	42851103	42851103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaattgctgcatacctgtGgtacagttttttatagatat	8	5	0	2			TCGA-DX-A2J4-01A-32D-A21Q-09	TCGA-DX-A2J4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a	7beaaff7-e241-4851-8dba-fd0b302c53cf	g.chr21:42851103G>A	ENST00000332149.5	-	7	813	c.679C>T	c.(679-681)Cac>Tac	p.H227Y	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.H227Y|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.H264Y	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	227	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCATACCTGTGGTACAGTTTT	0.413			T	"ERG, ETV1, ETV4, ETV5"	prostate																																			Dom	yes		21	21q22.3	7113	"transmembrane protease, serine 2"		E	0								ENSG00000184012						107	106	107					21																	42851103		2203	4300	6503	TMPRSS2	SO:0001583	missense	0			-	HGNC	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.679C>T	21.37:g.42851103G>A	ENSP00000330330:p.His227Tyr	Somatic	0	63	0		0.623129113100707				WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	56	62.75	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	34	0	0	51	60.77	79	pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.H264Y	ENST00000332149.5	37	c.790	CCDS33564.1	21	.	.	.	.	.	.	.	.	.	.	G	4.689	0.128180	0.08981	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.22	4.25	0.50352	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.241217	0.35838	N	0.002953	T	0.41696	0.1170	L	0.37750	1.13	0.30371	N	0.78288	B;B	0.23990	0.095;0.016	B;B	0.20384	0.017;0.029	T	0.29610	-1.0006	10	0.13853	T	0.58	.	9.3564	0.38168	0.0:0.0:0.7315:0.2685	.	264;227	F8WES1;O15393	.;TMPS2_HUMAN	Y	227;264;227;227;187	ENSP00000330330:H227Y;ENSP00000381588:H264Y;ENSP00000391216:H227Y;ENSP00000389006:H227Y;ENSP00000397846:H187Y	ENSP00000330330:H227Y	H	-	1	0	TMPRSS2	41772973	1.000000	0.71417	0.992000	0.48379	0.228000	0.25075	2.291000	0.43540	2.443000	0.82685	0.549000	0.68633	CAC	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel		0.413	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS2	protein_coding	OTTHUMT00000195189.1	G		-		42851103	-1	no_errors	ENST00000398585	ensembl	human	known	74_37	missense	SNP	0.999	A	A	42851103	G	A	42851103	3	1	38	1	0	0	0	0	1	0	0	0	16254	1348	47	2	831	2	TMPRSS2	21	42851103	Missense_Mutation	SNP	G	TCGA-DX-A2J4-01A-32D-A21Q-09		42851103	5278792	33	2361											
USP48	84196	genome.wustl.edu	37	chr1	22073626	22073626	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaggtattcagcttttTcttatgtccagtttgcctaa	7	7	2	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr1:22073626T>A	ENST00000308271.9	-	8	1573	c.925A>T	c.(925-927)Aaa>Taa	p.K309*	USP48_ENST00000529637.1_Nonsense_Mutation_p.K309*|USP48_ENST00000421625.2_Nonsense_Mutation_p.K309*|USP48_ENST00000400301.1_Nonsense_Mutation_p.K309*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	309	USP.				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)		TTCAGCTTTTTCTTATGTCCA	0.289																																																	0								ENSG00000090686						89	86	87					1																	22073626		2203	4300	6503	USP48	SO:0001587	stop_gained	0			-	HGNC	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.925A>T	1.37:g.22073626T>A	ENSP00000309262:p.Lys309*	Somatic	0	42	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	37	0	0	50	12.28	7	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.K309*	ENST00000308271.9	37	c.925	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	T	45	11.402039	0.99556	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2953	0.66308	0.0:0.0:0.0:1.0	.	.	.	.	X	309	.	ENSP00000309262:K309X	K	-	1	0	USP48	21946213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.851000	0.75425	1.965000	0.57142	0.455000	0.32223	AAA	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.289	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	protein_coding	OTTHUMT00000021372.1	T	NM_032236	-		22073626	-1	no_errors	ENST00000308271	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	22073626	T	A	22073626	4	1	39	1	0	0	0	0	0	1	0	0	17086	1792	62	5	2270	5	USP48	1	22073626	Nonsense_Mutation	SNP	T	TCGA-DX-A3LS-01A-11D-A21Q-09		22073626	227176995	1	2362											
IVL	3713	genome.wustl.edu	37	chr1	152883175	152883175	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggatcagcaggagaAgcagccagagctcccagagc	13	13	1	3			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr1:152883175A>T	ENST00000368764.3	+	2	966	c.902A>T	c.(901-903)aAg>aTg	p.K301M	IVL_ENST00000392667.2_Missense_Mutation_p.K155M			P07476	INVO_HUMAN	involucrin	301	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAGGAGAAGCAGCCAGAG	0.637																																																	0								ENSG00000163207						19	19	19					1																	152883175		2063	4020	6083	IVL	SO:0001583	missense	0			-	HGNC	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.902A>T	1.37:g.152883175A>T	ENSP00000357753:p.Lys301Met	Somatic	0	55	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	71	29.00	Q5T7P4	Missense_Mutation	SNP	25	0	0	37	28.57	16	pfam_Involucrin_N,pfam_Involucrin_rpt	p.K301M	ENST00000368764.3	37	c.902	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190704	0.21954	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10668	3.02;2.85	3.75	-0.0893	0.13669	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	P	0.43885	0.82	P	0.45998	0.5	T	0.40421	-0.9564	9	0.46703	T	0.11	.	7.0113	0.24863	0.6817:0.0:0.3183:0.0	.	301	P07476	INVO_HUMAN	M	301;155	ENSP00000357753:K301M;ENSP00000376435:K155M	ENSP00000357753:K301M	K	+	2	0	IVL	151149799	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.188000	0.17018	0.027000	0.15297	-1.786000	0.00637	AAG	-	pfam_Involucrin_rpt		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	protein_coding	OTTHUMT00000034664.1	A	NM_005547	-		152883175	1	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	SNP	0.017	T	T	152883175	A	T	152883175	3	4	39	1	0	0	0	0	1	0	0	0	7931	72	3	5	904	5	IVL	1	152883175	Missense_Mutation	SNP	A	TCGA-DX-A3LS-01A-11D-A21Q-09	130809549	152883175	96367446	2	2363											
TBC1D5	9779	genome.wustl.edu	37	chr3	17226625	17226625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtgtccatcacctttgCacagtatttgcacatggcat	8	10	1	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr3:17226625C>T	ENST00000253692.7	-	19	3492	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TBC1D5_ENST00000446818.2_Missense_Mutation_p.A632T|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A610T|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A584T|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	610						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATCACCTTTGCACAGTATTTG	0.413																																																	0								ENSG00000131374						156	131	139					3																	17226625		2203	4300	6503	TBC1D5	SO:0001583	missense	0			-	HGNC	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1828G>A	3.37:g.17226625C>T	ENSP00000253692:p.Ala610Thr	Somatic	0	87	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	80	22.33	A6NP25|C9JP52	Missense_Mutation	SNP	31	0	0	47	34.72	25	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A610T	ENST00000253692.7	37	c.1828	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.509180	0.96386	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.58506	1.35;1.35;1.35;0.33	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.69078	0.981;0.997;0.993;0.993	P;P;P;P	0.61397	0.699;0.888;0.849;0.849	T	0.65553	-0.6140	10	0.59425	D	0.04	-15.6633	18.9775	0.92743	0.0:1.0:0.0:0.0	.	584;632;610;610	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	T	610;610;632;584	ENSP00000253692:A610T;ENSP00000398127:A610T;ENSP00000402935:A632T;ENSP00000411925:A584T	ENSP00000253692:A610T	A	-	1	0	TBC1D5	17201629	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	6.996000	0.76263	2.785000	0.95823	0.655000	0.94253	GCA	-	NULL		0.413	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	protein_coding	OTTHUMT00000340301.3	C	NM_014744	-		17226625	-1	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17226625	C	T	17226625	3	4	39	1	0	0	0	0	1	0	0	0	15630	710	25	2	575	2	TBC1D5	3	17226625	Missense_Mutation	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		17226625	180795805	3	2364											
C3orf26	84319	genome.wustl.edu	37	chr3	99891167	99891167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttggaacaggtccaggCgcaggtaaagttgctggaga	14	8	1	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr3:99891167C>T	ENST00000421999.2	+	8	733	c.587C>T	c.(586-588)gCg>gTg	p.A196V	CMSS1_ENST00000489081.1_Missense_Mutation_p.A178V	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	196							poly(A) RNA binding (GO:0044822)										CAGGTCCAGGCGCAGGTAAAG	0.413																																																	0								ENSG00000184220						65	69	68					3																	99891167		2203	4300	6503	CMSS1	SO:0001583	missense	0			-	HGNC		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.587C>T	3.37:g.99891167C>T	ENSP00000410396:p.Ala196Val	Somatic	0	32	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	33	0	0	42	23.64	13	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase	p.A196V	ENST00000421999.2	37	c.587	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766689	0.31228	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.30182	1.54;1.54;1.54	5.69	3.32	0.38043	DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091723	0.64402	D	0.000001	T	0.16854	0.0405	N	0.20530	0.585	0.38732	D	0.953681	B	0.22211	0.066	B	0.12156	0.007	T	0.10613	-1.0622	9	.	.	.	.	8.5429	0.33404	0.7348:0.1362:0.0:0.1289	.	196	Q9BQ75	CC026_HUMAN	V	196;178;152	ENSP00000410396:A196V;ENSP00000419161:A178V;ENSP00000417293:A152V	.	A	+	2	0	C3orf26	101373857	1.000000	0.71417	0.812000	0.32479	0.240000	0.25518	4.166000	0.58203	0.440000	0.26502	-1.026000	0.02426	GCG	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase		0.413	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	protein_coding	OTTHUMT00000353060.1	C	NM_032359	-		99891167	1	no_errors	ENST00000421999	ensembl	human	known	74_37	missense	SNP	0.993	T	T	99891167	C	T	99891167	3	4	39	1	0	0	0	0	1	0	0	0	2220	768	27	1	631	1	C3orf26	3	99891167	Missense_Mutation	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	82664542	99891167	98131263	4	2365											
PHLDB2	90102	genome.wustl.edu	37	chr3	111658466	111658466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatatcaacggaacatcGtttctagaaaggtacttttt	7	7	2	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr3:111658466G>T	ENST00000431670.2	+	7	2686	c.2275G>T	c.(2275-2277)Gtt>Ttt	p.V759F	PHLDB2_ENST00000412622.1_Missense_Mutation_p.V716F|PHLDB2_ENST00000495180.1_Missense_Mutation_p.V345F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.V716F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.V743F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.V759F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	759						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACGGAACATCGTTTCTAGAAA	0.388																																																	0								ENSG00000144824						85	85	85					3																	111658466		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2275G>T	3.37:g.111658466G>T	ENSP00000405405:p.Val759Phe	Somatic	0	26	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	36	0	0	55	0.00	0	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V759F	ENST00000431670.2	37	c.2275	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221926	0.79464	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.86	5.86	0.93980	.	0.140106	0.47093	D	0.000244	T	0.66829	0.2829	M	0.61703	1.905	0.54753	D	0.999982	D;P;D;D	0.71674	0.998;0.801;0.994;0.994	D;P;P;P	0.65443	0.935;0.476;0.871;0.808	T	0.65463	-0.6162	10	0.59425	D	0.04	.	19.3335	0.94306	0.0:0.0:1.0:0.0	.	345;759;716;743	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	F	743;743;759;716;716;759;716;345	ENSP00000377500:V743F;ENSP00000405405:V759F;ENSP00000405292:V716F;ENSP00000418296:V716F;ENSP00000377502:V759F;ENSP00000418319:V716F;ENSP00000420303:V345F	ENSP00000352764:V743F	V	+	1	0	PHLDB2	113141156	1.000000	0.71417	0.860000	0.33809	0.905000	0.53344	7.408000	0.80041	2.937000	0.99478	0.650000	0.86243	GTT	-	NULL		0.388	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	G	NM_145753	-		111658466	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	0.997	T	T	111658466	G	T	111658466	3	4	39	1	0	0	0	0	1	0	0	0	11854	1145	40	3	2382	3	PHLDB2	3	111658466	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	11767299	111658466	86363964	5	2366											
PIK3R4	30849	genome.wustl.edu	37	chr3	130398323	130398323	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctactttctgcttattctGaatttcctgtttggtgatta	6	8	2	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr3:130398323G>T	ENST00000356763.3	-	20	4470	c.3913C>A	c.(3913-3915)Cag>Aag	p.Q1305K	PIK3R4_ENST00000512677.1_5'Flank	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1305					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGCTTATTCTGAATTTCCTGT	0.473																																																	0								ENSG00000196455						130	132	132					3																	130398323		2203	4300	6503	PIK3R4	SO:0001583	missense	0			-	HGNC	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3913C>A	3.37:g.130398323G>T	ENSP00000349205:p.Gln1305Lys	Somatic	0	11	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	Q2TBF4	Missense_Mutation	SNP	33	0	0	29	35.56	16	pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1305K	ENST00000356763.3	37	c.3913	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047194	0.55110	.	.	ENSG00000196455	ENST00000356763	T	0.05139	3.49	5.59	5.59	0.84812	WD40 repeat-like-containing domain (1);	0.050545	0.85682	D	0.000000	T	0.07007	0.0178	L	0.29908	0.895	0.54753	D	0.999983	B	0.25667	0.131	B	0.21546	0.035	T	0.42932	-0.9422	10	0.21540	T	0.41	-19.3173	19.5818	0.95469	0.0:0.0:1.0:0.0	.	1305	Q99570	PI3R4_HUMAN	K	1305	ENSP00000349205:Q1305K	ENSP00000349205:Q1305K	Q	-	1	0	PIK3R4	131881013	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.155000	0.94700	2.645000	0.89757	0.491000	0.48974	CAG	-	superfamily_WD40_repeat_dom		0.473	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	protein_coding	OTTHUMT00000356668.1	G	NM_014602	-		130398323	-1	no_errors	ENST00000356763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130398323	G	T	130398323	3	4	39	1	0	0	0	0	1	0	0	0	11923	1299	45	3	167	3	PIK3R4	3	130398323	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	18739857	130398323	67624107	6	2367											
SLC6A18	348932	genome.wustl.edu	37	chr5	1238115	1238115	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggtcctgaccatctttctCatcagagggctgaccctgcc	9	15	3	3	rs111842636	byFrequency	TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr5:1238115C>G	ENST00000324642.3	+	5	795	c.672C>G	c.(670-672)ctC>ctG	p.L224L	SLC6A18_ENST00000296821.4_Silent_p.L224L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	224					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCATCTTTCTCATCAGAGGGC	0.493																																																	0								ENSG00000164363						152	141	145					5																	1238115		2203	4300	6503	SLC6A18	SO:0001819	synonymous_variant	0			-	HGNC	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.672C>G	5.37:g.1238115C>G		Somatic	0	53	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	162	135	54.36		Silent	SNP	31	0	0	85	58.69	125	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L224	ENST00000324642.3	37	c.672	CCDS3860.1	5																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.493	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	protein_coding	OTTHUMT00000206728.3	C	NM_182632	-		1238115	1	no_errors	ENST00000324642	ensembl	human	known	74_37	silent	SNP	0.906	G	G	1238115	C	G	1238115	2	3	39	1	0	0	0	0	0	0	0	1	14689	813	29	4		4	SLC6A18	5	1238115	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		1238115	179677145	7	2368			1	22		2	2	40	C		6.424887e-05
SLC6A18	348932	genome.wustl.edu	37	chr5	1238154	1238154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaggggcaacaaaaggactCatctacttgttcactcccaa	7	13	3	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr5:1238154C>T	ENST00000324642.3	+	5	834	c.711C>T	c.(709-711)ctC>ctT	p.L237L	SLC6A18_ENST00000296821.4_Silent_p.L237L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	237					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAAAAGGACTCATCTACTTGT	0.517																																																	0								ENSG00000164363						131	116	121					5																	1238154		2203	4300	6503	SLC6A18	SO:0001819	synonymous_variant	0			-	HGNC	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.711C>T	5.37:g.1238154C>T		Somatic	0	58	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	162	139	53.82		Silent	SNP	29	0	0	81	55.49	101	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L237	ENST00000324642.3	37	c.711	CCDS3860.1	5																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.517	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	protein_coding	OTTHUMT00000206728.3	C	NM_182632	-		1238154	1	no_errors	ENST00000324642	ensembl	human	known	74_37	silent	SNP	0.000	T	T	1238154	C	T	1238154	2	4	39	1	0	0	0	0	0	0	0	1	14689	813	29	2		2	SLC6A18	5	1238154	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	39	1238154	179677106	8	2369			1	22		2	2	40	C		6.424887e-05
PDE8B	8622	genome.wustl.edu	37	chr5	76709035	76709035	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggcctggttccaagtgatCgaagccaactaccactcttc	9	14	1	1	rs373238717		TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr5:76709035C>T	ENST00000264917.5	+	17	1857	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	PDE8B_ENST00000333194.4_Silent_p.I549I|PDE8B_ENST00000340978.3_Silent_p.I557I|PDE8B_ENST00000342343.4_Silent_p.I584I|PDE8B_ENST00000346042.3_Silent_p.I507I|PDE8B_ENST00000505283.1_Silent_p.I69I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	604	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TCCAAGTGATCGAAGCCAACT	0.488																																																	0								ENSG00000113231						208	192	197					5																	76709035		2203	4300	6503	PDE8B	SO:0001819	synonymous_variant	0			-	HGNC	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1812C>T	5.37:g.76709035C>T		Somatic	0	55	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	73	21.51	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	22	0	0	50	19.35	12	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.I604	ENST00000264917.5	37	c.1812	CCDS4037.1	5																																																																																			-	NULL		0.488	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	protein_coding	OTTHUMT00000220015.3	C	NM_003719	-		76709035	1	no_errors	ENST00000264917	ensembl	human	known	74_37	silent	SNP	0.456	T	T	76709035	C	T	76709035	2	4	39	1	0	0	0	0	0	0	0	1	11656	874	31	1		1	PDE8B	5	76709035	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	75470881	76709035	104206225	9	2370											
TTC37	9652	genome.wustl.edu	37	chr5	94803639	94803640	+	Frame_Shift_Del	DEL	AG	AG	-													caacgtgcagttgatgcaatAgatttgggatacccaggctg							TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr5:94803639_94803640delAG	ENST00000358746.2	-	42	4848_4849	c.4550_4551delCT	c.(4549-4551)tctfs	p.S1517fs		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1517						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGATGCAATAGATTTGGGATA	0.366																																																	0								ENSG00000198677																																			TTC37	SO:0001589	frameshift_variant	0				HGNC	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4550_4551delCT	5.37:g.94803639_94803640delAG	ENSP00000351596:p.Ser1517fs	Somatic	0	33	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	O15077|Q6PJI3	Frame_Shift_Del	DEL	29	0	0	50	0.00	0	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1517fs	ENST00000358746.2	37	c.4551_4550	CCDS4072.1	5																																																																																			-	NULL		0.366	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	protein_coding	OTTHUMT00000241651.1	AG	NM_014639			94803640	-1	no_errors	ENST00000358746	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	94803640	AG	-	94803639	7	5	39	1	0	1	0	1	0	0	0	0	16712	407	15	0	151	0	TTC37	5	94803639	Frame_Shift_Del	DEL	AG	TCGA-DX-A3LS-01A-11D-A21Q-09	18094604	94803639	86111621	10	2371											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140735522	140735522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtaccacgtaagtgttcGtgagaacgttcctgtaggca	12	9	0	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr5:140735522G>A	ENST00000571252.1	+	1	755	c.755G>A	c.(754-756)cGt>cAt	p.R252H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	252	Cadherin 3. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAGTGTTCGTGAGAACGTT	0.507																																																	0								ENSG00000262576						34	37	36					5																	140735522		2038	4185	6223	PCDHGA4	SO:0001583	missense	0			-	HGNC	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.755G>A	5.37:g.140735522G>A	ENSP00000458570:p.Arg252His	Somatic	0	32	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	Q9Y5D3	Missense_Mutation	SNP	25	0	0	36	14.29	6	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R252H	ENST00000571252.1	37	c.755	CCDS58979.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.507	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	G	NM_018917	-		140735522	1	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140735522	G	A	140735522	3	1	39	1	0	0	0	0	1	0	0	0	11558	1145	40	1	757	1	PCDHGA4	5	140735522	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	45931883	140735522	40179738	11	2372											
FOXI1	2299	genome.wustl.edu	37	chr5	169533511	169533511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgactgcttcaagaagGtgccccgcgacgaggacgac	12	13	2	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr5:169533511G>C	ENST00000306268.6	+	1	611	c.550G>C	c.(550-552)Gtg>Ctg	p.V184L	FOXI1_ENST00000449804.2_Missense_Mutation_p.V184L			Q12951	FOXI1_HUMAN	forkhead box I1	184					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCAAGAAGGTGCCCCGCGA	0.587									Pendred syndrome																																								0								ENSG00000168269						39	43	42					5																	169533511		2203	4300	6503	FOXI1	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	-	HGNC	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.550G>C	5.37:g.169533511G>C	ENSP00000304286:p.Val184Leu	Somatic	0	73	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	136	17.58	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	20	0	0	36	14.29	6	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.V184L	ENST00000306268.6	37	c.550	CCDS4372.1	5	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449041	0.63178	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.96745	-4.11;-4.11	4.86	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97473	0.9173	M	0.75615	2.305	0.80722	D	1	D;D	0.57899	0.976;0.981	P;P	0.58077	0.741;0.832	D	0.98109	1.0419	10	0.72032	D	0.01	.	18.1961	0.89822	0.0:0.0:1.0:0.0	.	184;184	Q12951-2;Q12951	.;FOXI1_HUMAN	L	184	ENSP00000304286:V184L;ENSP00000415483:V184L	ENSP00000304286:V184L	V	+	1	0	FOXI1	169466089	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.801000	0.85960	2.513000	0.84729	0.650000	0.86243	GTG	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.587	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188	-		169533511	1	no_errors	ENST00000306268	ensembl	human	known	74_37	missense	SNP	1.000	C	C	169533511	G	C	169533511	3	2	39	1	0	0	0	0	1	0	0	0	6011	1261	44	4	552	4	FOXI1	5	169533511	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	28797989	169533511	11381749	12	2373											
ZFP57	4340	genome.wustl.edu	37	chr6	29641137	29641137	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtaacccagatggacgcGgcggtgacgacttagtccag	14	12	0	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr6:29641137G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.R251C|ZFP57_ENST00000376883.1_Missense_Mutation_p.R231C|ZFP57_ENST00000376881.3_Missense_Mutation_p.R231C	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGATGGACGCGGCGGTGACGA	0.557																																																	0								ENSG00000204644						79	87	84					6																	29641137		1350	2609	3959	ZFP57	SO:0001628	intergenic_variant	0			-	HGNC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641137G>A		Somatic	0	60	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	28	0	0	29	19.44	7	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R251C	ENST00000376917.3	37	c.751	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669375	0.67814	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.19394	2.15;2.15;2.15	4.48	3.6	0.41247	.	0.139361	0.33834	N	0.004509	T	0.36276	0.0961	M	0.82823	2.61	0.39035	D	0.960011	D;P	0.89917	1.0;0.945	D;P	0.91635	0.999;0.448	T	0.38628	-0.9652	10	0.87932	D	0	-22.2198	10.2746	0.43501	0.0985:0.0:0.9015:0.0	.	251;231	Q9NU63-3;Q9NU63-2	.;.	C	251;231;231	ENSP00000418259:R251C;ENSP00000366078:R231C;ENSP00000366080:R231C	ENSP00000366078:R231C	R	-	1	0	ZFP57	29749116	0.003000	0.15002	0.995000	0.50966	0.908000	0.53690	1.081000	0.30791	1.224000	0.43551	0.563000	0.77884	CGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	protein_coding	OTTHUMT00000076160.3	G	NM_002433	-		29641137	-1	no_errors	ENST00000488757	ensembl	human	known	74_37	missense	SNP	0.825	A	A	29641137	G	A	29641137	1	1	39	0	1	0	0	0	0	0	0	0	17658	1116	39	1		1	ZFP57	6	29641137	IGR	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09		29641137	141473930	13	2374											
SNX14	57231	genome.wustl.edu	37	chr6	86251705	86251705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaaacatacaacctacctGttcaattttgaattgcgtgt	5	9	1	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr6:86251705G>T	ENST00000314673.3	-	15	1622	c.1446C>A	c.(1444-1446)aaC>aaA	p.N482K	SNX14_ENST00000369627.2_Missense_Mutation_p.N482K|SNX14_ENST00000346348.3_Missense_Mutation_p.N438K|SNX14_ENST00000505648.1_Missense_Mutation_p.N430K|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	482					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAACCTACCTGTTCAATTTTG	0.294																																																	0								ENSG00000135317						96	85	89					6																	86251705		2203	4299	6502	SNX14	SO:0001583	missense	0			-	HGNC	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1446C>A	6.37:g.86251705G>T	ENSP00000313121:p.Asn482Lys	Somatic	0	41	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	31	0	0	67	0.00	0	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.N482K	ENST00000314673.3	37	c.1446	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	G	16.90	3.248906	0.59103	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T	0.23147	1.97;1.92;1.93;1.95;1.96	5.7	3.91	0.45181	.	0.140193	0.64402	D	0.000002	T	0.10035	0.0246	L	0.29908	0.895	0.41681	D	0.98929	P;P;P;P	0.48503	0.911;0.688;0.736;0.828	B;B;B;B	0.42593	0.392;0.178;0.169;0.318	T	0.05022	-1.0911	10	0.33940	T	0.23	-12.0088	12.6005	0.56494	0.1362:0.0:0.8638:0.0	.	482;438;482;430	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	K	438;482;430;482;409	ENSP00000257769:N438K;ENSP00000313121:N482K;ENSP00000427380:N430K;ENSP00000358641:N482K;ENSP00000425630:N409K	ENSP00000313121:N482K	N	-	3	2	SNX14	86308424	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.114000	0.64648	0.739000	0.32628	0.585000	0.79938	AAC	-	NULL		0.294	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	protein_coding	OTTHUMT00000041393.2	G	NM_153816	-		86251705	-1	no_errors	ENST00000314673	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86251705	G	T	86251705	3	4	39	1	0	0	0	0	1	0	0	0	14893	1368	48	3	1454	3	SNX14	6	86251705	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	56610568	86251705	84863362	14	2375											
MAN1A1	4121	genome.wustl.edu	37	chr6	119514953	119514953	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgggttacctgaacagcatCaaaatacatcttcttagctt	6	9	3	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr6:119514953C>T	ENST00000368468.3	-	9	1756	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	439					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGAACAGCATCAAAATACATC	0.358																																					Ovarian(136;8 1825 12608 33541 47587)												0								ENSG00000111885						113	107	109					6																	119514953		2203	4300	6503	MAN1A1	SO:0001583	missense	0			-	HGNC	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1315G>A	6.37:g.119514953C>T	ENSP00000357453:p.Asp439Asn	Somatic	0	45	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	246	26.79	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	29	0	0	218	32.09	103	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.D439N	ENST00000368468.3	37	c.1315	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103581	0.56291	.	.	ENSG00000111885	ENST00000368468	T	0.71579	-0.58	5.72	5.72	0.89469	.	0.232964	0.43260	D	0.000593	T	0.60560	0.2278	L	0.45137	1.4	0.80722	D	1	B	0.26635	0.155	B	0.35413	0.202	T	0.58504	-0.7625	10	0.37606	T	0.19	-1.0333	19.88	0.96892	0.0:1.0:0.0:0.0	.	439	P33908	MA1A1_HUMAN	N	439	ENSP00000357453:D439N	ENSP00000357453:D439N	D	-	1	0	MAN1A1	119556652	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	4.909000	0.63314	2.703000	0.92315	0.655000	0.94253	GAT	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.358	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	protein_coding	OTTHUMT00000042015.1	C	NM_005907	-		119514953	-1	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119514953	C	T	119514953	3	4	39	1	0	0	0	0	1	0	0	0	9212	826	29	2	666	2	MAN1A1	6	119514953	Missense_Mutation	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	33263248	119514953	51600114	15	2376											
RADIL	55698	genome.wustl.edu	37	chr7	4917282	4917282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccagctcctccacgtcCgacctcttcctcagctcaaa	6	19	3	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr7:4917282C>T	ENST00000399583.3	-	2	676	c.489G>A	c.(487-489)tcG>tcA	p.S163S	RADIL_ENST00000536091.1_Silent_p.S163S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	163	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.S163S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCCACGTCCGACCTCTTCC	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000157927						60	72	68					7																	4917282		2071	4197	6268	RADIL	SO:0001819	synonymous_variant	0			-	HGNC	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.489G>A	7.37:g.4917282C>T		Somatic	0	81	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	110	17.29	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	23	0	0	25	26.47	9	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S163	ENST00000399583.3	37	c.489	CCDS43544.1	7																																																																																			-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.597	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	protein_coding	OTTHUMT00000323769.2	C	NM_018059	-		4917282	-1	no_errors	ENST00000399583	ensembl	human	known	74_37	silent	SNP	0.078	T	T	4917282	C	T	4917282	2	4	39	1	0	0	0	0	0	0	0	1	13005	639	23	1		1	RADIL	7	4917282	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		4917282	154221381	16	2377											
TRRAP	8295	genome.wustl.edu	37	chr7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtctctggcccggcgggCgcaggccactgcacaagacc	14	15	1	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr7:98592415C>T	ENST00000359863.4	+	66	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572																																																	0								ENSG00000196367						101	109	106					7																	98592415		2203	4300	6503	TRRAP	SO:0001583	missense	0			-	HGNC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10211C>T	7.37:g.98592415C>T	ENSP00000352925:p.Ala3404Val	Somatic	0	36	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	27	0	0	36	12.20	5	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A3404V	ENST00000359863.4	37	c.10211	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.727156|5.727156	0.96847|0.96847	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.02|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.993;0.997|.	P;B;P|.	0.59221|.	0.854;0.427;0.719|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.44086|.	T|.	0.13|.	.|.	19.2202|19.2202	0.93793|0.93793	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3375;3132;3404|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3404;3375;3392|3133	ENSP00000352925:A3404V;ENSP00000347733:A3375V|.	ENSP00000347733:A3375V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98430351|98430351	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	GCG|CGC	-	NULL		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	C	NM_003496	-		98592415	1	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98592415	C	T	98592415	3	4	39	1	0	0	0	0	1	0	0	0	16608	768	27	1	10378	1	TRRAP	7	98592415	Missense_Mutation	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	93675133	98592415	60546248	17	2378											
POTEA	340441	genome.wustl.edu	37	chr8	43159855	43159855	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacatagaatttgccaattaCtttctgactacaaagaaaac	4	8	1	3			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr8:43159855C>G	ENST00000522175.2	+	0	711				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGCCAATTACTTTCTGACTA	0.294																																																	0								ENSG00000188877						66	63	64					8																	43159855		1923	4164	6087	POTEA			0			-	HGNC	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43159855C>G		Somatic	0	70	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	166	202	44.99	A6ND17|A6ND71|Q6S8J6	RNA	SNP	32	0	0	46	36.99	27	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			-	-		0.294	POTEA-003	KNOWN	basic	processed_transcript	POTEA	pseudogene	OTTHUMT00000383492.1	C	NM_001002920	-		43159855	1	no_errors	ENST00000522175	ensembl	human	known	74_37	rna	SNP	0.005	G	G	43159855	C	G	43159855	1	3	39	0	1	0	0	0	0	0	0	0	12263	565	20	4		4	POTEA	8	43159855	RNA	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		43159855	103204167	18	2379			2	23		2	2	56	C		9.060619e-05
POTEA	340441	genome.wustl.edu	37	chr8	43159910	43159910	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctggaaatagcaatcCaggtaagacttctgatagtg	9	8	3	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr8:43159910C>T	ENST00000522175.2	+	0	766				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATAGCAATCCAGGTAAGACT	0.358																																																	0								ENSG00000188877						76	80	79					8																	43159910		2058	4230	6288	POTEA			0			-	HGNC	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43159910C>T		Somatic	0	70	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	201	252	44.37	A6ND17|A6ND71|Q6S8J6	RNA	SNP	29	0	0	40	45.95	34	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			-	-		0.358	POTEA-003	KNOWN	basic	processed_transcript	POTEA	pseudogene	OTTHUMT00000383492.1	C	NM_001002920	-		43159910	1	no_errors	ENST00000522175	ensembl	human	known	74_37	rna	SNP	0.062	T	T	43159910	C	T	43159910	1	4	39	0	1	0	0	0	0	0	0	0	12263	594	21	2		2	POTEA	8	43159910	RNA	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	55	43159910	103204112	19	2380			2	23		2	2	56	C		9.060619e-05
SYK	6850	genome.wustl.edu	37	chr9	93606231	93606231	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccacctgcccttctttttCggcaacatcacccgggagga	8	15	2	0	rs200626943		TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:93606231C>T	ENST00000375754.4	+	2	199	c.51C>T	c.(49-51)ttC>ttT	p.F17F	SYK_ENST00000375746.1_Silent_p.F17F|SYK_ENST00000375747.1_Silent_p.F17F|SYK_ENST00000375751.4_Silent_p.F17F|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	17	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCTTCTTTTTCGGCAACATCA	0.627			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								ENSG00000165025						32	24	27					9																	93606231		2203	4300	6503	SYK	SO:0001819	synonymous_variant	0			-	HGNC	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.51C>T	9.37:g.93606231C>T		Somatic	0	34	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92		Silent	SNP	26	0	0	42	14.29	7	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.F17	ENST00000375754.4	37	c.51	CCDS6688.1	9																																																																																			-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2		0.627	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	protein_coding	OTTHUMT00000053018.1	C		rs200626943		93606231	1	no_errors	ENST00000375746	ensembl	human	known	74_37	silent	SNP	0.814	T	T	93606231	C	T	93606231	2	4	39	1	0	0	0	0	0	0	0	1	15445	883	31	1		1	SYK	9	93606231	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		93606231	47607200	20	2381											
STXBP1	6812	genome.wustl.edu	37	chr9	130438121	130438121	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgctgagggagagaagatCaaggaccctatgcgagccat	14	8	1	3			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:130438121C>T	ENST00000373299.1	+	14	1264	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373302.3_Silent_p.I383I	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	383					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAGAGAAGATCAAGGACCCTA	0.493																																																	0								ENSG00000136854						145	106	119					9																	130438121		2203	4300	6503	STXBP1	SO:0001819	synonymous_variant	0			-	HGNC	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1149C>T	9.37:g.130438121C>T		Somatic	0	88	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	69	21.59	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	25	0	0	40	27.27	15	pfam_Sec1-like,superfamily_Sec1-like	p.I383	ENST00000373299.1	37	c.1149	CCDS35146.1	9																																																																																			-	pfam_Sec1-like,superfamily_Sec1-like		0.493	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	protein_coding	OTTHUMT00000054229.1	C	NM_003165	-		130438121	1	no_errors	ENST00000373299	ensembl	human	known	74_37	silent	SNP	1.000	T	T	130438121	C	T	130438121	2	4	39	1	0	0	0	0	0	0	0	1	15359	816	29	2		2	STXBP1	9	130438121	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	36831890	130438121	10775310	21	2382			3	24		3	3	88	C		1.015257e-08
STXBP1	6812	genome.wustl.edu	37	chr9	130438152	130438152	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcgagccatcgtccccattCtgctggatgccaatgtcagc	10	14	2	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:130438152C>T	ENST00000373299.1	+	14	1295	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373302.3_Silent_p.L394L	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	394					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGTCCCCATTCTGCTGGATGC	0.507																																																	0								ENSG00000136854						160	114	130					9																	130438152		2203	4300	6503	STXBP1	SO:0001819	synonymous_variant	0			-	HGNC	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1180C>T	9.37:g.130438152C>T		Somatic	0	80	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	64	20.99	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	31	0	0	35	36.36	20	pfam_Sec1-like,superfamily_Sec1-like	p.L394	ENST00000373299.1	37	c.1180	CCDS35146.1	9																																																																																			-	pfam_Sec1-like,superfamily_Sec1-like		0.507	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	protein_coding	OTTHUMT00000054229.1	C	NM_003165	-		130438152	1	no_errors	ENST00000373299	ensembl	human	known	74_37	silent	SNP	1.000	T	T	130438152	C	T	130438152	2	4	39	1	0	0	0	0	0	0	0	1	15359	912	32	2		2	STXBP1	9	130438152	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	31	130438152	10775279	22	2383			3	24		3	3	88	C		1.015257e-08
STXBP1	6812	genome.wustl.edu	37	chr9	130438208	130438208	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgcatcatccttctctacatCtttttgaagaatggtagggc	8	10	3	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:130438208C>G	ENST00000373299.1	+	14	1351	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373302.3_Missense_Mutation_p.I412M	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	412					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTCTCTACATCTTTTTGAAGA	0.488																																																	0								ENSG00000136854						115	87	96					9																	130438208		2203	4300	6503	STXBP1	SO:0001583	missense	0			-	HGNC	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1236C>G	9.37:g.130438208C>G	ENSP00000362396:p.Ile412Met	Somatic	0	61	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	29	3.33	1	39	31.58	18	pfam_Sec1-like,superfamily_Sec1-like	p.I412M	ENST00000373299.1	37	c.1236	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152395	0.57259	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.78126	-1.15;-1.15	5.61	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.86940	0.6054	M	0.86651	2.83	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.972	D	0.86175	0.1602	10	0.87932	D	0	-6.8574	6.9786	0.24690	0.3084:0.6117:0.0:0.0799	.	412;412	P61764;P61764-2	STXB1_HUMAN;.	M	366;412;244;412	ENSP00000362399:I412M;ENSP00000362396:I412M	ENSP00000362396:I412M	I	+	3	3	STXBP1	129478029	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.041000	0.30291	0.829000	0.34733	0.655000	0.94253	ATC	-	pfam_Sec1-like,superfamily_Sec1-like		0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	protein_coding	OTTHUMT00000054229.1	C	NM_003165	-		130438208	1	no_errors	ENST00000373299	ensembl	human	known	74_37	missense	SNP	1.000	G	G	130438208	C	G	130438208	3	3	39	1	0	0	0	0	1	0	0	0	15359	903	32	4	1290	4	STXBP1	9	130438208	Missense_Mutation	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	56	130438208	10775223	23	2384			3	24		3	3	88	C		1.015257e-08
CEL	1056	genome.wustl.edu	37	chr9	135941960	135941960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatggccattgcttgggtGaagaggaatatcgcggcctt	13	9	0	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:135941960G>A	ENST00000372080.4	+	5	607	c.591G>A	c.(589-591)gtG>gtA	p.V197V	CEL_ENST00000351304.7_Silent_p.V194V	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	194					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TTGCTTGGGTGAAGAGGAATA	0.642																																																	0								ENSG00000170835						98	108	105					9																	135941960		1962	4148	6110	CEL	SO:0001819	synonymous_variant	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.591G>A	9.37:g.135941960G>A		Somatic	0	33	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	25	0	0	48	9.43	5	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V197	ENST00000372080.4	37	c.591	CCDS43896.1	9																																																																																			-	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	G		-		135941960	1	no_errors	ENST00000372080	ensembl	human	known	74_37	silent	SNP	1.000	A	A	135941960	G	A	135941960	2	1	39	1	0	0	0	0	0	0	0	1	3211	1277	45	2		2	CEL	9	135941960	Silent	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	5503752	135941960	5271471	24	2385											
CEL	1056	genome.wustl.edu	37	chr9	135944447	135944447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttgattcccccagggagGacttctacaagctggtcagt	10	11	2	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:135944447G>A	ENST00000372080.4	+	9	1112	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	CEL_ENST00000351304.7_Missense_Mutation_p.D363N	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	363					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCCAGGGAGGACTTCTACAA	0.572																																																	0								ENSG00000170835						16	23	21					9																	135944447		1535	3589	5124	CEL	SO:0001583	missense	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1096G>A	9.37:g.135944447G>A	ENSP00000361151:p.Asp366Asn	Somatic	0	31	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	10	0	0	27	15.62	5	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.D366N	ENST00000372080.4	37	c.1096	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107954	0.56291	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.67523	-0.27;-0.27	5.37	3.42	0.39159	Carboxylesterase, type B (1);	0.379902	0.30556	N	0.009369	T	0.63129	0.2485	L	0.37630	1.12	0.47476	D	0.999433	P	0.50272	0.933	P	0.51229	0.663	T	0.65619	-0.6124	10	0.87932	D	0	.	9.1044	0.36689	0.0835:0.2216:0.6949:0.0	.	363	P19835	CEL_HUMAN	N	366;363;365	ENSP00000361151:D366N;ENSP00000342217:D363N	ENSP00000304021:D365N	D	+	1	0	CEL	134934268	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	4.149000	0.58091	1.273000	0.44346	0.491000	0.48974	GAC	-	pfam_CarbesteraseB		0.572	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	G		-		135944447	1	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	SNP	0.998	A	A	135944447	G	A	135944447	3	1	39	1	0	0	0	0	1	0	0	0	3211	1174	41	2	1130	2	CEL	9	135944447	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	2487	135944447	5268984	25	2386											
C9orf96	169436	genome.wustl.edu	37	chr9	136269043	136269043	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcccggcccctttctgcaGgctgcatcaaggagcagcag	12	15	2	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:136269043G>C	ENST00000371957.3	+	16	1710		c.e16-1		C9orf96_ENST00000371955.1_Splice_Site	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN									ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTTTCTGCAGGCTGCATCAA	0.662																																																	0								ENSG00000198870						39	43	41					9																	136269043		2203	4300	6503	C9orf96	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000371957.3:c.1604-1G>C	9.37:g.136269043G>C		Somatic	0	51	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q5T8U8|Q6ZMP6|Q6ZMQ5	Splice_Site	SNP	29	0	0	43	8.33	4	-	e16-1	ENST00000371957.3	37	c.1604-1	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313845	0.40996	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5501	0.87873	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf96	135258864	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.846000	0.69444	2.354000	0.79902	0.561000	0.74099	.	-	-		0.662	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	protein_coding	OTTHUMT00000054855.1	G		-	Intron	136269043	1	no_errors	ENST00000371957	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	136269043	G	C	136269043	5	2	39	1	0	0	0	0	0	0	1	0	2510	1014	35	4	1665	4	C9orf96	9	136269043	Splice_Site	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	324596	136269043	4944388	26	2387											
C9orf96	169436	genome.wustl.edu	37	chr9	136270458	136270458	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcttcacctccagcctggtGagtgacagcagcgccttcag	11	15	2	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr9:136270458G>A	ENST00000371957.3	+	18	2063	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	C9orf96_ENST00000371955.1_Silent_p.V185V	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		652							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGCCTGGTGAGTGACAGCA	0.602																																																	0								ENSG00000198870						49	43	45					9																	136270458		2203	4298	6501	C9orf96	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000371957.3:c.1956G>A	9.37:g.136270458G>A		Somatic	0	19	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	31	0	0	46	9.80	5	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V652	ENST00000371957.3	37	c.1956	CCDS35169.1	9																																																																																			-	NULL		0.602	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	protein_coding	OTTHUMT00000054855.1	G		-		136270458	1	no_errors	ENST00000371957	ensembl	human	known	74_37	silent	SNP	0.998	A	A	136270458	G	A	136270458	2	1	39	1	0	0	0	0	0	0	0	1	2510	1277	45	2		2	C9orf96	9	136270458	Silent	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	1415	136270458	4942973	27	2388											
ABLIM1	3983	genome.wustl.edu	37	chr10	116444077	116444077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcccatggtgtgatgaggGtccgtgagctcagtcatttc	12	10	3	3			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr10:116444077G>T	ENST00000369252.4	-	1	337	c.36C>A	c.(34-36)gaC>gaA	p.D12E	ABLIM1_ENST00000533213.2_Missense_Mutation_p.D12E	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGTGATGAGGGTCCGTGAGCT	0.463																																																	0								ENSG00000099204						205	165	179					10																	116444077		2203	4300	6503	ABLIM1	SO:0001583	missense	0			-	HGNC	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000369252.4:c.36C>A	10.37:g.116444077G>T	ENSP00000358256:p.Asp12Glu	Somatic	0	53	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	17	0	0	35	0.00	0	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.D12E	ENST00000369252.4	37	c.36	CCDS31288.1	10	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443344	0.25987	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.26660	1.72;1.72	5.87	0.515	0.17013	.	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.35400	-0.9790	9	0.02654	T	1	.	6.978	0.24688	0.155:0.4145:0.4304:0.0	.	12;12;12	F8W8M4;A6NKJ2;B3KVH2	.;.;.	E	12	ENSP00000358256:D12E;ENSP00000433629:D12E	ENSP00000358256:D12E	D	-	3	2	ABLIM1	116434067	0.667000	0.27484	0.919000	0.36401	0.383000	0.30230	0.301000	0.19174	0.176000	0.19873	0.655000	0.94253	GAC	-	NULL		0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	ABLIM1	protein_coding		G		-		116444077	-1	no_errors	ENST00000369252	ensembl	human	known	74_37	missense	SNP	0.963	T	T	116444077	G	T	116444077	3	4	39	1	0	0	0	0	1	0	0	0	94	1252	44	3	2544	3	ABLIM1	10	116444077	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09		116444077	19090670	28	2389											
SLC18A2	6571	genome.wustl.edu	37	chr10	119014856	119014856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgttcctggtgctggccGccctggtactcttggatgga	13	13	1	0	rs201547103		TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr10:119014856G>A	ENST00000298472.5	+	7	912	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	257					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)	GGTGCTGGCCGCCCTGGTACT	0.627																																																	0								ENSG00000165646	G	THR/ALA	0,4406		0,0,2203	61	58	59		769	3.2	1	10		59	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC18A2	NM_003054.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	257/515	119014856	1,13005	2203	4300	6503	SLC18A2	SO:0001583	missense	0			-	HGNC	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.769G>A	10.37:g.119014856G>A	ENSP00000298472:p.Ala257Thr	Somatic	0	55	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.54	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	15	6.25	1	29	14.71	5	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A257T	ENST00000298472.5	37	c.769	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406096	0.42715	0.0	1.16E-4	ENSG00000165646	ENST00000298472	T	0.58940	0.3	5.26	3.21	0.36854	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.177544	0.49305	N	0.000155	T	0.48960	0.1529	L	0.50333	1.59	0.43080	D	0.994739	B	0.19935	0.04	B	0.22601	0.04	T	0.36040	-0.9764	10	0.20519	T	0.43	-13.5312	11.6774	0.51438	0.1545:0.0:0.8455:0.0	.	257	Q05940	VMAT2_HUMAN	T	257	ENSP00000298472:A257T	ENSP00000298472:A257T	A	+	1	0	SLC18A2	119004846	0.214000	0.23563	0.975000	0.42487	0.977000	0.68977	1.396000	0.34531	0.592000	0.29728	0.563000	0.77884	GCC	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.627	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	protein_coding	OTTHUMT00000050563.1	G	NM_003054	rs201547103		119014856	1	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	SNP	0.992	A	A	119014856	G	A	119014856	3	1	39	1	0	0	0	0	1	0	0	0	14434	1087	38	1	791	1	SLC18A2	10	119014856	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	2570779	119014856	16519891	29	2390											
PRB3	5544	genome.wustl.edu	37	chr12	11420936	11420936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggtttcctccttgtgGgggtggtccttctggctttc	14	10	1	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:11420936G>A	ENST00000279573.7	-	3	382	c.247C>T	c.(247-249)Cca>Tca	p.P83S	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.P83S|PRB3_ENST00000381842.3_Missense_Mutation_p.P83S			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	83	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTCCTTGTGGGGGTGGTCCT	0.627																																																	0								ENSG00000197870						143	174	164					12																	11420936		2141	4261	6402	PRB3	SO:0001583	missense	0			-	HGNC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.247C>T	12.37:g.11420936G>A	ENSP00000279573:p.Pro83Ser	Somatic	0	59	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	126	125	50.00	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	10	0	0	17	55.26	21	NULL	p.P83S	ENST00000279573.7	37	c.247		12	.	.	.	.	.	.	.	.	.	.	.	7.309	0.614614	0.14129	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05081	3.5;3.5	0.948	-0.147	0.13428	.	.	.	.	.	T	0.03783	0.0107	.	.	.	0.09310	N	1	P	0.48694	0.914	B	0.35182	0.197	T	0.41752	-0.9491	8	0.46703	T	0.11	.	5.7815	0.18310	0.0:0.0:0.6862:0.3137	.	83	Q04118	PRB3_HUMAN	S	83	ENSP00000371264:P83S;ENSP00000442626:P83S	ENSP00000279573:P83S	P	-	1	0	PRB3	11312203	0.391000	0.25221	0.001000	0.08648	0.035000	0.12851	1.251000	0.32862	-0.051000	0.13334	0.194000	0.17425	CCA	-	NULL		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	protein_coding	OTTHUMT00000402119.5	G	NM_006249	-		11420936	-1	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	SNP	0.193	A	A	11420936	G	A	11420936	3	1	39	1	0	0	0	0	1	0	0	0	12449	1232	43	2	690	2	PRB3	12	11420936	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09		11420936	122430959	30	2391											
KCNH3	23416	genome.wustl.edu	37	chr12	49948143	49948143	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggcgacctgatcggctgtGagctgccccggcgggagcag	18	12	0	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:49948143G>A	ENST00000257981.6	+	11	2202	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	648					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|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(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GATCGGCTGTGAGCTGCCCCG	0.637																																																	0								ENSG00000135519						68	76	73					12																	49948143		2203	4300	6503	KCNH3	SO:0001583	missense	0			-	HGNC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1942G>A	12.37:g.49948143G>A	ENSP00000257981:p.Glu648Lys	Somatic	0	73	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	149	9.15	Q9UQ06	Missense_Mutation	SNP	22	0	0	83	4.60	4	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.E648K	ENST00000257981.6	37	c.1942	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901324	0.72754	.	.	ENSG00000135519	ENST00000257981	D	0.96716	-4.1	4.81	4.81	0.61882	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.47455	D	0.000224	D	0.93844	0.8031	N	0.17082	0.46	0.45261	D	0.998269	B	0.29571	0.249	B	0.41135	0.348	D	0.92881	0.6323	10	0.56958	D	0.05	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	648	Q9ULD8	KCNH3_HUMAN	K	648	ENSP00000257981:E648K	ENSP00000257981:E648K	E	+	1	0	KCNH3	48234410	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.725000	0.47294	2.628000	0.89032	0.563000	0.77884	GAG	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	protein_coding	OTTHUMT00000404571.2	G	NM_012284	-		49948143	1	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49948143	G	A	49948143	3	1	39	1	0	0	0	0	1	0	0	0	8035	1291	45	2	1984	2	KCNH3	12	49948143	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	38527207	49948143	83903752	31	2392			4	25		4	3	180	N	G	4.323023e-08
KCNH3	23416	genome.wustl.edu	37	chr12	49948182	49948182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtggtaaaggccaatgccGacgtgaaggggctgacgtac	16	8	0	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:49948182G>A	ENST00000257981.6	+	11	2241	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	661					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.D661N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGCCAATGCCGACGTGAAGGG	0.652																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000135519						78	80	79					12																	49948182		2203	4300	6503	KCNH3	SO:0001583	missense	0			-	HGNC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1981G>A	12.37:g.49948182G>A	ENSP00000257981:p.Asp661Asn	Somatic	0	69	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	147	11.45	Q9UQ06	Missense_Mutation	SNP	23	0	0	88	3.30	3	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.D661N	ENST00000257981.6	37	c.1981	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948682	0.73787	.	.	ENSG00000135519	ENST00000257981	D	0.92446	-3.04	4.81	4.81	0.61882	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.48767	D	0.000180	D	0.89255	0.6663	L	0.48986	1.54	0.28505	N	0.91384	B	0.32526	0.374	B	0.32928	0.155	T	0.82822	-0.0267	10	0.27785	T	0.31	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	661	Q9ULD8	KCNH3_HUMAN	N	661	ENSP00000257981:D661N	ENSP00000257981:D661N	D	+	1	0	KCNH3	48234449	0.992000	0.36948	0.382000	0.26119	0.880000	0.50808	2.399000	0.44495	2.628000	0.89032	0.563000	0.77884	GAC	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	protein_coding	OTTHUMT00000404571.2	G	NM_012284	-		49948182	1	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	SNP	0.478	A	A	49948182	G	A	49948182	3	1	39	1	0	0	0	0	1	0	0	0	8035	1058	37	1	2023	1	KCNH3	12	49948182	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	39	49948182	83903713	32	2393			4	25		4	3	180	N	G	4.323023e-08
KCNH3	23416	genome.wustl.edu	37	chr12	49948321	49948321	+	Missense_Mutation	SNP	G	G	A													cagctacaacctgggtgctgGgggaggctctgcagaggtga							TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:49948321G>A	ENST00000257981.6	+	11	2380	c.2120G>A	c.(2119-2121)gGg>gAg	p.G707E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	707					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|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(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGGTGCTGGGGGAGGCTCT	0.657																																																	0								ENSG00000135519						45	44	44					12																	49948321		2203	4300	6503	KCNH3	SO:0001583	missense	0			-	HGNC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2120G>A	12.37:g.49948321G>A	ENSP00000257981:p.Gly707Glu	Somatic	0	44	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	97	8.49	Q9UQ06	Missense_Mutation	SNP	23	0	0	88	3.26	3	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G707E	ENST00000257981.6	37	c.2120	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484265	0.84854	.	.	ENSG00000135519	ENST00000257981	D	0.99287	-5.69	5.05	5.05	0.67936	.	0.000000	0.47852	D	0.000218	D	0.96414	0.8830	N	0.08118	0	0.58432	D	0.999993	B	0.27656	0.184	B	0.20767	0.031	D	0.94562	0.7763	10	0.72032	D	0.01	.	16.7233	0.85415	0.0:0.0:1.0:0.0	.	707	Q9ULD8	KCNH3_HUMAN	E	707	ENSP00000257981:G707E	ENSP00000257981:G707E	G	+	2	0	KCNH3	48234588	0.999000	0.42202	0.990000	0.47175	0.994000	0.84299	4.867000	0.63013	2.744000	0.94065	0.563000	0.77884	GGG	-	NULL		0.657	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	protein_coding	OTTHUMT00000404571.2	G	NM_012284	-		49948321	1	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49948321	G	A	49948321	3	1	39	1	0	0	0	0	1	0	0	0	8035	1232	43	2	2162	2	KCNH3	12	49948321	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	139	49948321	83903574	33	2394	35	2	4	25		4	3	180	N	G	4.323023e-08
KCNH3	23416	genome.wustl.edu	37	chr12	49948322	49948322	+	Silent	SNP	G	G	A													agctacaacctgggtgctggGggaggctctgcagaggtgag							TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:49948322G>A	ENST00000257981.6	+	11	2381	c.2121G>A	c.(2119-2121)ggG>ggA	p.G707G		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	707					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|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(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGGGTGCTGGGGGAGGCTCTG	0.657																																																	0								ENSG00000135519						45	43	44					12																	49948322		2203	4300	6503	KCNH3	SO:0001819	synonymous_variant	0			-	HGNC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2121G>A	12.37:g.49948322G>A		Somatic	0	44	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	96	8.57	Q9UQ06	Silent	SNP	23	0	0	88	3.30	3	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G707	ENST00000257981.6	37	c.2121	CCDS8786.1	12																																																																																			-	NULL		0.657	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	protein_coding	OTTHUMT00000404571.2	G	NM_012284	-		49948322	1	no_errors	ENST00000257981	ensembl	human	known	74_37	silent	SNP	0.014	A	A	49948322	G	A	49948322	2	1	39	1	0	0	0	0	0	0	0	1	8035	1219	43	2		2	KCNH3	12	49948322	Silent	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	1	49948322	83903573	34	2395	35	2	4	25		4	3	180	N	G	4.323023e-08
FAM186B	84070	genome.wustl.edu	37	chr12	49992542	49992542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgggaggcccaccttgGggaacatggtcaccatgctg	16	11	1	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:49992542G>A	ENST00000257894.2	-	5	2521	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.P697L	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	787						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCCACCTTGGGGAACATGGT	0.667																																																	0								ENSG00000135436						51	48	49					12																	49992542		2203	4300	6503	FAM186B	SO:0001583	missense	0			-	HGNC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2360C>T	12.37:g.49992542G>A	ENSP00000257894:p.Pro787Leu	Somatic	0	28	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	13	0	0	55	5.17	3	NULL	p.P787L	ENST00000257894.2	37	c.2360	CCDS8788.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.230519|4.230519	0.79688|0.79688	.|.	.|.	ENSG00000135436|ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894|ENST00000548841	T;T;T|T	0.44083|0.42131	0.93;0.93;0.93|0.98	5.28|5.28	4.33|4.33	0.51752|0.51752	.|.	0.000000|0.000000	0.42420|0.42420	D|D	0.000709|0.000709	T|T	0.53594|0.53594	0.1806|0.1806	M|M	0.72479|0.72479	2.2|2.2	0.43703|0.43703	D|D	0.996169|0.996169	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76575|.	0.988;0.982|.	T|T	0.51624|0.51624	-0.8682|-0.8682	9|7	.|.	.|.	.|.	-24.8923|-24.8923	10.6893|10.6893	0.45862|0.45862	0.0:0.0:0.8096:0.1904|0.0:0.0:0.8096:0.1904	.|.	697;787|.	B4DZ15;Q8IYM0|.	.;F186B_HUMAN|.	L|S	697;400;787|11	ENSP00000438569:P697L;ENSP00000436995:P400L;ENSP00000257894:P787L|ENSP00000448989:P11S	.|.	P|P	-|-	2|1	0|0	FAM186B|FAM186B	48278809|48278809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.298000|3.298000	0.51818|0.51818	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	CCC|CCA	-	NULL		0.667	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	protein_coding	OTTHUMT00000394583.2	G	NM_032130	-		49992542	-1	no_errors	ENST00000257894	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49992542	G	A	49992542	3	1	39	1	0	0	0	0	1	0	0	0	5514	1232	43	2	333	2	FAM186B	12	49992542	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	44220	49992542	83859353	35	2396											
PRPF40B	25766	genome.wustl.edu	37	chr12	50036712	50036712	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttcctctgcctctagcaGactgaatgccagcacctcca	6	16	3	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:50036712G>A	ENST00000380281.1	+	21	2119	c.2055G>A	c.(2053-2055)caG>caA	p.Q685Q	PRPF40B_ENST00000548825.2_Splice_Site|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Silent_p.Q672Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	685					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCCTCTAGCAGACTGAATGCC	0.537																																																	0								ENSG00000110844						121	100	107					12																	50036712		2203	4300	6503	PRPF40B	SO:0001819	synonymous_variant	0			-	HGNC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2055G>A	12.37:g.50036712G>A		Somatic	0	36	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	103	9.65	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Splice_Site	SNP	25	0	0	141	4.67	7	-	e22-1	ENST00000380281.1	37	c.2119-1		12																																																																																			-	-		0.537	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	protein_coding	OTTHUMT00000404838.1	G	NM_012272	-		50036712	1	no_errors	ENST00000548825	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	50036712	G	A	50036712	2	1	39	1	0	0	0	0	0	0	0	1	12577	933	33	2		2	PRPF40B	12	50036712	Silent	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	44170	50036712	83815183	36	2397											
FMNL3	91010	genome.wustl.edu	37	chr12	50042925	50042925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcatcttccggtcagtgGacttggtatccagcagctag	12	10	3	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:50042925G>A	ENST00000293590.5	-	21	2635	c.2402C>T	c.(2401-2403)tCc>tTc	p.S801F	FMNL3_ENST00000335154.5_Missense_Mutation_p.S801F|FMNL3_ENST00000550488.1_Missense_Mutation_p.S801F|FMNL3_ENST00000352151.5_Missense_Mutation_p.S750F			Q8IVF7	FMNL3_HUMAN	formin-like 3	801	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCGGTCAGTGGACTTGGTATC	0.562																																																	0								ENSG00000161791						127	137	134					12																	50042925		2108	4231	6339	FMNL3	SO:0001583	missense	0			-	HGNC	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2402C>T	12.37:g.50042925G>A	ENSP00000293590:p.Ser801Phe	Somatic	0	32	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	62	26.19	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	26	0	0	109	32.72	53	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.S801F	ENST00000293590.5	37	c.2402		12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892867	0.91889	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.97110	1.0;0.994;0.998	D	0.90405	0.4405	10	0.87932	D	0	.	18.4218	0.90594	0.0:0.0:1.0:0.0	.	750;801;801	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	F	801;801;750;801	ENSP00000335655:S801F;ENSP00000447479:S801F;ENSP00000344311:S750F;ENSP00000293590:S801F	ENSP00000293590:S801F	S	-	2	0	FMNL3	48329192	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.733000	0.98818	2.723000	0.93209	0.655000	0.94253	TCC	-	pfam_FH2_Formin,smart_FH2_Formin		0.562	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	protein_coding		G	NM_175736	-		50042925	-1	no_errors	ENST00000293590	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50042925	G	A	50042925	3	1	39	1	0	0	0	0	1	0	0	0	5955	1174	41	2	705	2	FMNL3	12	50042925	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	6213	50042925	83808970	37	2398											
ERBB3	2065	genome.wustl.edu	37	chr12	56480358	56480358	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgagaagaacgataagctTtgtcacatggacacaattga	9	6	1	3			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:56480358T>G	ENST00000267101.3	+	4	905	c.465T>G	c.(463-465)ctT>ctG	p.L155L	ERBB3_ENST00000415288.2_Silent_p.L96L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	155					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACGATAAGCTTTGTCACATGG	0.498																																																	0								ENSG00000065361						237	203	215					12																	56480358		2203	4300	6503	ERBB3	SO:0001819	synonymous_variant	0			-	HGNC	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.465T>G	12.37:g.56480358T>G		Somatic	0	49	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	126	32.26	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	29	0	0	61	28.24	24	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L155	ENST00000267101.3	37	c.465	CCDS31833.1	12																																																																																			-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L		0.498	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	protein_coding	OTTHUMT00000407619.3	T		-		56480358	1	no_errors	ENST00000267101	ensembl	human	known	74_37	silent	SNP	0.680	G	G	56480358	T	G	56480358	2	3	39	1	0	0	0	0	0	0	0	1	5210	1828	64	5		5	ERBB3	12	56480358	Silent	SNP	T	TCGA-DX-A3LS-01A-11D-A21Q-09	6437433	56480358	77371537	38	2399											
METTL1	1594	genome.wustl.edu	37	chr12	58163174	58163174	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagcacatcggttatgGtatacaccagcccctgcata	8	14	0	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:58163174G>A	ENST00000228606.4	-	0	0				CYP27B1_ENST00000546496.1_5'Flank|METTL21B_ENST00000551420.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000257848.7_Silent_p.Y134Y|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.T196I	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	ATCGGTTATGGTATACACCAG	0.542																																																	0								ENSG00000037897						74	60	65					12																	58163174		2203	4300	6503	METTL1	SO:0001631	upstream_gene_variant	0			-	HGNC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58163174G>A	Exception_encountered	Somatic	0	16	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	99	28.78	B2RC61|Q548T3	Missense_Mutation	SNP	24	0	0	245	35.77	137	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase	p.T196I	ENST00000228606.4	37	c.587	CCDS8954.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.607272|4.607272	0.87157|0.87157	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000547653|ENST00000324871	.|T	.|0.36878	.|1.23	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40791|0.40791	0.1131|0.1131	L|L	0.56280|0.56280	1.765|1.765	0.80722|0.80722	D|D	1|1	.|B	.|0.33379	.|0.41	.|B	.|0.40329	.|0.326	T|T	0.11891|0.11891	-1.0569|-1.0569	5|10	.|0.10377	.|T	.|0.69	-19.4635|-19.4635	18.8531|18.8531	0.92240|0.92240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|196	.|Q9UBP6	.|TRMB_HUMAN	S|I	42|196	.|ENSP00000314441:T196I	.|ENSP00000314441:T196I	P|T	-|-	1|2	0|0	METTL1|METTL1	56449441|56449441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	8.702000|8.702000	0.91338|0.91338	2.761000|2.761000	0.94854|0.94854	0.655000|0.655000	0.94253|0.94253	CCA|ACC	-	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase		0.542	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	protein_coding	OTTHUMT00000409248.1	G	NM_000785	-		58163174	-1	no_errors	ENST00000324871	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58163174	G	A	58163174	1	1	39	0	1	0	0	0	0	0	0	0	9495	1265	44	2		2	METTL1	12	58163174	5'Flank	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	1682816	58163174	75688721	39	2400			5	26	8214852	4	3	393	N	G_A	2.079102e-07
METTL1	25895	genome.wustl.edu	37	chr12	58163396	58163396	+	5'Flank	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctagcagggtgggactgatGattcgccacttgtgctttgt	14	8	0	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:58163396G>A	ENST00000300209.8	+	0	0				METTL21B_ENST00000551420.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000257848.7_Missense_Mutation_p.H114Y|METTL1_ENST00000548681.1_5'Flank|CYP27B1_ENST00000228606.4_5'Flank|METTL1_ENST00000324871.7_Silent_p.I175I	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TGGGACTGATGATTCGCCACT	0.537																																																	0								ENSG00000037897						184	160	168					12																	58163396		2203	4300	6503	METTL1	SO:0001631	upstream_gene_variant	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163396G>A	Exception_encountered	Somatic	0	39	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	123	227	35.14	Q9H749|Q9Y3W2	Missense_Mutation	SNP	26	0	0	251	36.78	146	NULL	p.H114Y	ENST00000300209.8	37	c.340	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	G	8.570	0.879932	0.17467	.	.	ENSG00000037897	ENST00000257848;ENST00000547653;ENST00000548504	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.26733	N	0.970553	B	0.24258	0.1	B	0.22152	0.038	T	0.23619	-1.0183	7	0.02654	T	1	-17.6657	8.8521	0.35206	0.1603:0.0:0.8397:0.0	.	114	Q53FS9	.	Y	114;15;40	.	ENSP00000257848:H114Y	H	-	1	0	METTL1	56449663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.454000	0.60068	2.690000	0.91761	0.655000	0.94253	CAT	-	NULL		0.537	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	protein_coding	OTTHUMT00000409268.1	G	NM_015433	-		58163396	-1	no_errors	ENST00000257848	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58163396	G	A	58163396	1	1	39	0	1	0	0	0	0	0	0	0	9495	1290	45	2		2	METTL1	12	58163396	5'Flank	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	222	58163396	75688499	40	2401			5	26	8214852	4	3	393	N	G_A	2.079102e-07
METTL1	25895	genome.wustl.edu	37	chr12	58163564	58163564	+	5'Flank	SNP	G	G	C													cccctccccacctggcccttGtagaagaagttaggaaggtg							TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:58163564G>C	ENST00000300209.8	+	0	0				METTL21B_ENST00000551420.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000257848.7_Intron|METTL1_ENST00000548681.1_5'Flank|CYP27B1_ENST00000228606.4_5'Flank|METTL21B_ENST00000333012.5_5'Flank|METTL1_ENST00000324871.7_Nonsense_Mutation_p.Y150*	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTGGCCCTTGTAGAAGAAGT	0.607																																																	0								ENSG00000037897						58	55	56					12																	58163564		2203	4300	6503	METTL1	SO:0001631	upstream_gene_variant	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163564G>C	Exception_encountered	Somatic	0	50	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	267	15.51	Q9H749|Q9Y3W2	Nonsense_Mutation	SNP	21	0	0	241	19.00	57	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase	p.Y150*	ENST00000300209.8	37	c.450	CCDS8957.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.959054|2.959054	0.53400|0.53400	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000548504|ENST00000324871	.|.	.|.	.|.	5.08|5.08	1.79|1.79	0.24919|0.24919	.|.	.|1.444940	.|0.03848	.|N	.|0.271858	T|.	0.70011|.	0.3175|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55471|.	-0.8136|.	4|.	.|0.49607	.|T	.|0.09	1.7929|1.7929	12.6322|12.6322	0.56663|0.56663	0.0:0.0:0.3968:0.6032|0.0:0.0:0.3968:0.6032	.|.	.|.	.|.	.|.	E|X	29|150	.|.	.|ENSP00000314441:Y150X	Q|Y	-|-	1|3	0|2	METTL1|METTL1	56449831|56449831	0.795000|0.795000	0.28851|0.28851	0.859000|0.859000	0.33776|0.33776	0.989000|0.989000	0.77384|0.77384	1.150000|1.150000	0.31639|0.31639	0.434000|0.434000	0.26340|0.26340	0.655000|0.655000	0.94253|0.94253	CAA|TAC	-	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase		0.607	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	protein_coding	OTTHUMT00000409268.1	G	NM_015433	-		58163564	-1	no_errors	ENST00000324871	ensembl	human	known	74_37	nonsense	SNP	0.123	C	C	58163564	G	C	58163564	1	2	39	0	1	0	0	0	0	0	0	0	9495	1372	48	4		4	METTL1	12	58163564	5'Flank	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	168	58163564	75688331	41	2402	36	2	5	26	8214852	4	3	393	N	G_A	2.079102e-07
METTL1	25895	genome.wustl.edu	37	chr12	58163566	58163566	+	5'Flank	SNP	A	A	G													cctccccacctggcccttgtAgaagaagttaggaaggtgct							TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:58163566A>G	ENST00000300209.8	+	0	0				METTL21B_ENST00000551420.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000257848.7_Intron|METTL1_ENST00000548681.1_5'Flank|CYP27B1_ENST00000228606.4_5'Flank|METTL21B_ENST00000333012.5_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.Y150H	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TGGCCCTTGTAGAAGAAGTTA	0.607																																																	0								ENSG00000037897						59	55	56					12																	58163566		2203	4300	6503	METTL1	SO:0001631	upstream_gene_variant	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163566A>G	Exception_encountered	Somatic	0	54	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	273	13.88	Q9H749|Q9Y3W2	Missense_Mutation	SNP	23	0	0	248	17.61	53	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase	p.Y150H	ENST00000300209.8	37	c.448	CCDS8957.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.236|8.236	0.805802|0.805802	0.16467|0.16467	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000548504|ENST00000324871	.|T	.|0.41065	.|1.01	5.08|5.08	3.23|3.23	0.37069|0.37069	.|.	.|1.444940	.|0.03848	.|N	.|0.271858	T|T	0.20292|0.20292	0.0488|0.0488	N|N	0.02181|0.02181	-0.65|-0.65	0.51012|0.51012	D|D	0.999909|0.999909	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.15838|0.15838	-1.0423|-1.0423	5|10	.|0.41790	.|T	.|0.15	1.7929|1.7929	5.1734|5.1734	0.15122|0.15122	0.1802:0.0:0.6563:0.1635|0.1802:0.0:0.6563:0.1635	.|.	.|150	.|Q9UBP6	.|TRMB_HUMAN	P|H	28|150	.|ENSP00000314441:Y150H	.|ENSP00000314441:Y150H	L|Y	-|-	2|1	0|0	METTL1|METTL1	56449833|56449833	0.982000|0.982000	0.34865|0.34865	0.875000|0.875000	0.34327|0.34327	0.986000|0.986000	0.74619|0.74619	1.974000|1.974000	0.40559|0.40559	0.521000|0.521000	0.28445|0.28445	-0.242000|-0.242000	0.12053|0.12053	CTA|TAC	-	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase		0.607	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	protein_coding	OTTHUMT00000409268.1	A	NM_015433	-		58163566	-1	no_errors	ENST00000324871	ensembl	human	known	74_37	missense	SNP	0.286	G	G	58163566	A	G	58163566	1	3	39	0	1	0	0	0	0	0	0	0	9495	420	15	5		5	METTL1	12	58163566	5'Flank	SNP	A	TCGA-DX-A3LS-01A-11D-A21Q-09	2	58163566	75688329	42	2403	36	2	5	26	8214852	4	3	393	N	G_A	2.079102e-07
ANAPC5	51433	genome.wustl.edu	37	chr12	121747544	121747544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaggaagctgctgaagcCacctggcacttggccactaa	11	12	0	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:121747544C>T	ENST00000261819.3	-	16	2137	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	ANAPC5_ENST00000344395.4_Silent_p.V560V|ANAPC5_ENST00000441917.2_Silent_p.V560V|ANAPC5_ENST00000541887.1_Silent_p.V659V|ANAPC5_ENST00000535482.1_Silent_p.V338V|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	672					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGCTGAAGCCACCTGGCACT	0.512																																																	0								ENSG00000089053						80	74	76					12																	121747544		2203	4300	6503	ANAPC5	SO:0001819	synonymous_variant	0			-	HGNC	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2016G>A	12.37:g.121747544C>T		Somatic	0	44	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	172	81	67.98	E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	29	0	0	78	72.34	204	smart_TPR_repeat	p.V672	ENST00000261819.3	37	c.2016	CCDS9220.1	12																																																																																			-	NULL		0.512	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	protein_coding	OTTHUMT00000402582.1	C		-		121747544	-1	no_errors	ENST00000261819	ensembl	human	known	74_37	silent	SNP	1.000	T	T	121747544	C	T	121747544	2	4	39	1	0	0	0	0	0	0	0	1	605	581	21	2		2	ANAPC5	12	121747544	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09	63583978	121747544	12104351	43	2404											
GOLGA3	2802	genome.wustl.edu	37	chr12	133384827	133384827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggacgccgcactgcttctGttctgcttcagggaaccctt	10	14	3	0			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr12:133384827G>C	ENST00000450791.2	-	4	1011	c.828C>G	c.(826-828)aaC>aaG	p.N276K	GOLGA3_ENST00000537452.1_Missense_Mutation_p.N276K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.N276K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N276K|GOLGA3_ENST00000204726.3_Missense_Mutation_p.N276K			Q08378	GOGA3_HUMAN	golgin A3	276					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CACTGCTTCTGTTCTGCTTCA	0.577																																																	0								ENSG00000090615						128	136	133					12																	133384827		2203	4300	6503	GOLGA3	SO:0001583	missense	0			-	HGNC	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.828C>G	12.37:g.133384827G>C	ENSP00000410378:p.Asn276Lys	Somatic	0	14	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	24	0	0	33	50.00	33	superfamily_Prefoldin	p.N276K	ENST00000450791.2	37	c.828	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018177	0.35606	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.23	3.38	0.38709	.	0.465733	0.26522	N	0.023904	T	0.25158	0.0611	L	0.54323	1.7	0.80722	D	1	P;P;B	0.38078	0.617;0.465;0.313	B;B;B	0.30855	0.121;0.085;0.115	T	0.03202	-1.1061	10	0.40728	T	0.16	.	10.9961	0.47578	0.1542:0.0:0.8458:0.0	.	276;276;276	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	276	ENSP00000204726:N276K;ENSP00000410378:N276K;ENSP00000409303:N276K;ENSP00000442143:N276K;ENSP00000442603:N276K	ENSP00000204726:N276K	N	-	3	2	GOLGA3	131894900	0.796000	0.28864	0.008000	0.14137	0.482000	0.33219	1.138000	0.31491	0.689000	0.31550	-0.225000	0.12378	AAC	-	NULL		0.577	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	protein_coding	OTTHUMT00000397569.2	G	NM_005895	-		133384827	-1	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	SNP	0.880	C	C	133384827	G	C	133384827	3	2	39	1	0	0	0	0	1	0	0	0	6556	1368	48	4	3886	4	GOLGA3	12	133384827	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	11637283	133384827	467068	44	2405											
MYO5C	55930	genome.wustl.edu	37	chr15	52571803	52571803	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagagccgtgaggtcattCtcgcccacgaggatgtcagg	14	11	3	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr15:52571803C>T	ENST00000261839.7	-	3	368	c.207G>A	c.(205-207)gaG>gaA	p.E69E	MYO5C_ENST00000541028.1_5'UTR|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000443683.2_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	69	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAGGTCATTCTCGCCCACGA	0.483																																																	0								ENSG00000128833						67	66	67					15																	52571803		1904	4125	6029	MYO5C	SO:0001819	synonymous_variant	0			-	HGNC	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.207G>A	15.37:g.52571803C>T		Somatic	0	40	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q6P1W8	Silent	SNP	29	0	0	30	25.00	10	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E69	ENST00000261839.7	37	c.207	CCDS42036.1	15																																																																																			-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	protein_coding	OTTHUMT00000419562.1	C	NM_018728	-		52571803	-1	no_errors	ENST00000261839	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52571803	C	T	52571803	2	4	39	1	0	0	0	0	0	0	0	1	10082	912	32	2		2	MYO5C	15	52571803	Silent	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		52571803	49959589	45	2406											
TLN2	83660	genome.wustl.edu	37	chr15	63055824	63055824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcatcaaccggtgcatccGggacatcgagcaggcctcgc	13	14	1	0	rs372775961		TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr15:63055824G>T	ENST00000561311.1	+	39	5254	c.5024G>T	c.(5023-5025)cGg>cTg	p.R1675L	TLN2_ENST00000306829.6_Missense_Mutation_p.R1675L|TLN2_ENST00000472902.1_Missense_Mutation_p.R68L			Q9Y4G6	TLN2_HUMAN	talin 2	1675					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGTGCATCCGGGACATCGAG	0.607																																																	0								ENSG00000171914						54	45	48					15																	63055824		2203	4300	6503	TLN2	SO:0001583	missense	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5024G>T	15.37:g.63055824G>T	ENSP00000453508:p.Arg1675Leu	Somatic	0	42	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NLB8	Missense_Mutation	SNP	26	0	0	37	0.00	0	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R1675L	ENST00000561311.1	37	c.5024	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.199581	0.94997	.	.	ENSG00000171914	ENST00000306829	T	0.69685	-0.42	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.83953	2.67	0.80722	D	1	D;D	0.53619	0.961;0.961	P;P	0.61275	0.886;0.776	T	0.83210	-0.0074	10	0.46703	T	0.11	-23.0219	18.8097	0.92053	0.0:0.0:1.0:0.0	.	719;1675	G1UI21;Q9Y4G6	.;TLN2_HUMAN	L	1675	ENSP00000303476:R1675L	ENSP00000303476:R1675L	R	+	2	0	TLN2	60843116	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	9.813000	0.99286	2.441000	0.82636	0.655000	0.94253	CGG	-	NULL		0.607	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G		-		63055824	1	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63055824	G	T	63055824	3	4	39	1	0	0	0	0	1	0	0	0	15955	1116	39	3	5170	3	TLN2	15	63055824	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	10484021	63055824	39475568	46	2407											
LPCAT2	54947	genome.wustl.edu	37	chr16	55584939	55584939	+	Frame_Shift_Del	DEL	A	A	-													tcaaaaggaggaagaattggAattgaagaattcgccaagta							TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr16:55584939delA	ENST00000262134.5	+	11	1324	c.1140delA	c.(1138-1140)ggafs	p.G380fs		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	380					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GAAGAATTGGAATTGAAGAAT	0.343																																																	0								ENSG00000087253						123	122	122					16																	55584939		2198	4300	6498	LPCAT2	SO:0001589	frameshift_variant	0				HGNC	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1140delA	16.37:g.55584939delA	ENSP00000262134:p.Gly380fs	Somatic	0	72	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	100	13.04	A3KBM1|Q6MZJ6|Q9NX23	Frame_Shift_Del	DEL	43	0	0	50	0.00	0	pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.I381fs	ENST00000262134.5	37	c.1140	CCDS10753.1	16																																																																																			-	NULL		0.343	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	protein_coding	OTTHUMT00000256977.2	A	NM_017839			55584939	1	no_errors	ENST00000262134	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	55584939	A	-	55584939	7	5	39	1	0	1	0	1	0	0	0	0	8913	233	9	0	1182	0	LPCAT2	16	55584939	Frame_Shift_Del	DEL	A	TCGA-DX-A3LS-01A-11D-A21Q-09		55584939	34769814	47	2408											
PLD2	5338	genome.wustl.edu	37	chr17	4711609	4711609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtccgcttgactcacgGcgacttttcctggacaacca	8	14	2	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr17:4711609G>T	ENST00000263088.6	+	4	412	c.281G>T	c.(280-282)gGc>gTc	p.G94V	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.G94V	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	94	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TTGACTCACGGCGACTTTTCC	0.552																																																	0								ENSG00000129219						190	181	184					17																	4711609		2203	4300	6503	PLD2	SO:0001583	missense	0			-	HGNC	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.281G>T	17.37:g.4711609G>T	ENSP00000263088:p.Gly94Val	Somatic	0	28	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	26	0	0	38	0.00	0	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.G94V	ENST00000263088.6	37	c.281	CCDS11057.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452119	0.84209	.	.	ENSG00000129219	ENST00000263088	T	0.32988	1.43	5.37	4.39	0.52855	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64067	-0.6494	10	0.87932	D	0	-17.0607	12.329	0.55028	0.0853:0.0:0.9147:0.0	.	94;94	O14939-2;O14939	.;PLD2_HUMAN	V	94	ENSP00000263088:G94V	ENSP00000263088:G94V	G	+	2	0	PLD2	4658573	1.000000	0.71417	0.874000	0.34290	0.960000	0.62799	6.095000	0.71439	2.497000	0.84241	0.561000	0.74099	GGC	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox		0.552	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	protein_coding	OTTHUMT00000207561.3	G	NM_002663	-		4711609	1	no_errors	ENST00000263088	ensembl	human	known	74_37	missense	SNP	0.993	T	T	4711609	G	T	4711609	3	4	39	1	0	0	0	0	1	0	0	0	12048	1203	42	3	291	3	PLD2	17	4711609	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09		4711609	76483601	48	2409											
USP6	9098	genome.wustl.edu	37	chr17	5072153	5072153	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaaagttttgatccgaGtgcttttttggtaccacgag	12	7	0	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr17:5072153G>C	ENST00000574788.1	+	35	5550	c.3320G>C	c.(3319-3321)aGt>aCt	p.S1107T	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.S790T|USP6_ENST00000250066.6_Missense_Mutation_p.S1107T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1107	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						TTTGATCCGAGTGCTTTTTTG	0.463			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0								ENSG00000129204						107	118	114					17																	5072153		2203	4300	6503	USP6	SO:0001583	missense	0			-	HGNC	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.3320G>C	17.37:g.5072153G>C	ENSP00000460380:p.Ser1107Thr	Somatic	0	79	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	94	25.40	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	28	0	0	40	23.08	12	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.S1107T	ENST00000574788.1	37	c.3320	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	7.566	0.665660	0.14710	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.35048	1.33;1.33	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.110562	0.85682	D	0.000000	T	0.37293	0.0998	L	0.28504	0.86	0.48571	D	0.99967	P;D	0.67145	0.933;0.996	P;P	0.57283	0.597;0.817	T	0.09207	-1.0685	10	0.37606	T	0.19	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	790;1107	P35125-2;P35125	.;UBP6_HUMAN	T	1107;790	ENSP00000250066:S1107T;ENSP00000305473:S790T	ENSP00000250066:S1107T	S	+	2	0	USP6	5012877	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	8.953000	0.93041	1.313000	0.45069	0.184000	0.17185	AGT	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.463	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	protein_coding	OTTHUMT00000438990.1	G	NM_004505	-		5072153	1	no_errors	ENST00000250066	ensembl	human	known	74_37	missense	SNP	1.000	C	C	5072153	G	C	5072153	3	2	39	1	0	0	0	0	1	0	0	0	17093	1029	36	4	3422	4	USP6	17	5072153	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	360544	5072153	76123057	49	2410											
KRT10	3858	genome.wustl.edu	37	chr17	38978609	38978609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccaccaaaacctcctaAtcctccatagccacctgatg	3	18	0	1			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr17:38978609A>G	ENST00000269576.5	-	1	238	c.229T>C	c.(229-231)Tta>Cta	p.L77L	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	77	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AAACCTCCTAATCCTCCATAG	0.562																																																	0								ENSG00000186395						108	122	117					17																	38978609		2203	4300	6503	KRT10	SO:0001819	synonymous_variant	0			-	HGNC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.229T>C	17.37:g.38978609A>G		Somatic	0	60	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	63	17.11	Q14664|Q8N175	Silent	SNP	24	0	0	33	23.26	10	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L77	ENST00000269576.5	37	c.229	CCDS11377.1	17																																																																																			-	NULL		0.562	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	protein_coding	OTTHUMT00000257875.1	A	NM_000421	-		38978609	-1	no_errors	ENST00000269576	ensembl	human	known	74_37	silent	SNP	0.000	G	G	38978609	A	G	38978609	2	3	39	1	0	0	0	0	0	0	0	1	8450	98	4	5		5	KRT10	17	38978609	Silent	SNP	A	TCGA-DX-A3LS-01A-11D-A21Q-09	33906456	38978609	42216601	50	2411											
KRT16	3868	genome.wustl.edu	37	chr17	39766252	39766252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgggccgggtctgacGgctcgaagaggacgaggagg	21	7	1	2	rs150387381		TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr17:39766252G>A	ENST00000301653.4	-	8	1421	c.1357C>T	c.(1357-1359)Cgt>Tgt	p.R453C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	453	Tail.			SRQTRPILK -> AVRPGPSS (in Ref. 1; AAA59460). {ECO:0000305}.	aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CGGGTCTGACGGCTCGAAGAG	0.612																																																	0								ENSG00000186832						29	29	29					17																	39766252		2203	4300	6503	KRT16	SO:0001583	missense	0			-	HGNC	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1357C>T	17.37:g.39766252G>A	ENSP00000301653:p.Arg453Cys	Somatic	0	81	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	93	19.83	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	21	0	0	39	22.00	11	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R453C	ENST00000301653.4	37	c.1357	CCDS11401.1	17	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170637	0.38315	.	.	ENSG00000186832	ENST00000301653	D	0.83163	-1.69	4.59	3.61	0.41365	.	0.263263	0.27249	N	0.020229	T	0.58278	0.2111	N	0.08118	0	0.09310	N	0.999998	P	0.51537	0.946	B	0.34346	0.18	T	0.55547	-0.8124	10	0.33141	T	0.24	.	7.6214	0.28187	0.115:0.0:0.885:0.0	.	453	P08779	K1C16_HUMAN	C	453	ENSP00000301653:R453C	ENSP00000301653:R453C	R	-	1	0	KRT16	37019778	0.026000	0.19158	0.041000	0.18516	0.197000	0.23852	1.612000	0.36889	2.104000	0.64026	0.462000	0.41574	CGT	-	NULL		0.612	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT16	protein_coding	OTTHUMT00000257408.1	G	NM_005557	-		39766252	-1	no_errors	ENST00000301653	ensembl	human	known	74_37	missense	SNP	0.003	A	A	39766252	G	A	39766252	3	1	39	1	0	0	0	0	1	0	0	0	8455	1116	39	1	68	1	KRT16	17	39766252	Missense_Mutation	SNP	G	TCGA-DX-A3LS-01A-11D-A21Q-09	787643	39766252	41428958	51	2412											
USP29	57663	genome.wustl.edu	37	chr19	57640072	57640072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaggtatgtggattcaTccaaatttggagccagaaga	10	6	2	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chr19:57640072T>C	ENST00000254181.4	+	4	483	c.29T>C	c.(28-30)aTc>aCc	p.I10T	USP29_ENST00000598197.1_Missense_Mutation_p.I10T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	10					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		TGTGGATTCATCCAAATTTGG	0.338																																																	0								ENSG00000131864						44	45	45					19																	57640072		2203	4300	6503	USP29	SO:0001583	missense	0			-	HGNC		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.29T>C	19.37:g.57640072T>C	ENSP00000254181:p.Ile10Thr	Somatic	0	29	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP	38	0	0	60	0.00	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.I10T	ENST00000254181.4	37	c.29	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	T	8.737	0.918162	0.17982	.	.	ENSG00000131864	ENST00000254181	T	0.58358	0.34	2.79	0.672	0.17935	.	1.100210	0.07308	U	0.875304	T	0.43277	0.1240	L	0.46157	1.445	0.09310	N	1	P	0.40398	0.716	B	0.37833	0.259	T	0.37150	-0.9718	10	0.87932	D	0	-1.1064	4.9387	0.13954	0.0:0.2361:0.0:0.7639	.	10	Q9HBJ7	UBP29_HUMAN	T	10	ENSP00000254181:I10T	ENSP00000254181:I10T	I	+	2	0	USP29	62331884	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.424000	0.21330	0.060000	0.16281	0.482000	0.46254	ATC	-	NULL		0.338	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	protein_coding	OTTHUMT00000465075.1	T		-		57640072	1	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	SNP	0.000	C	C	57640072	T	C	57640072	3	2	39	1	0	0	0	0	1	0	0	0	17066	1435	50	5	31	5	USP29	19	57640072	Missense_Mutation	SNP	T	TCGA-DX-A3LS-01A-11D-A21Q-09		57640072	1488911	52	2413											
MAGEB1	4112	genome.wustl.edu	37	chrX	30269613	30269613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacgacttttagagcgCgttctagagccccattcagc	9	14	2	2			TCGA-DX-A3LS-01A-11D-A21Q-09	TCGA-DX-A3LS-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	075fc96d-6742-4ef3-9369-482592ad3a2f	dc2e1f2d-585d-4dab-9bb2-aee31ee5b436	g.chrX:30269613C>T	ENST00000378981.3	+	4	1324	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	MAGEB1_ENST00000397548.2_Missense_Mutation_p.R335C|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R335C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	335										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTTAGAGCGCGTTCTAGAGC	0.502													C|||	1	0.000264901	0	0	3775	,	,		13682	0		0.001	False		,,,				2504	0																0								ENSG00000214107						70	65	67					X																	30269613		2202	4300	6502	MAGEB1	SO:0001583	missense	0			-	HGNC		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.1003C>T	X.37:g.30269613C>T	ENSP00000368264:p.Arg335Cys	Somatic	0	60	0		0.538498311914478				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	84	17.65	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	32	0	0	46	19.30	11	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R335C	ENST00000378981.3	37	c.1003	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	C	8.332	0.826735	0.16749	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01647	4.71;4.71;4.71	3.1	-2.63	0.06133	.	.	.	.	.	T	0.01523	0.0049	L	0.37697	1.125	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.44574	-0.9319	9	0.46703	T	0.11	.	3.3415	0.07120	0.5085:0.2509:0.0:0.2406	.	335	P43366	MAGB1_HUMAN	C	335	ENSP00000368264:R335C;ENSP00000380683:R335C;ENSP00000380681:R335C	ENSP00000368264:R335C	R	+	1	0	MAGEB1	30179534	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.441000	0.21611	-0.877000	0.04012	-0.322000	0.08575	CGT	-	NULL		0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	protein_coding	OTTHUMT00000056160.1	C	NM_002363	-		30269613	1	no_errors	ENST00000378981	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30269613	C	T	30269613	3	4	39	1	0	0	0	0	1	0	0	0	9174	768	27	1	1005	1	MAGEB1	23	30269613	Missense_Mutation	SNP	C	TCGA-DX-A3LS-01A-11D-A21Q-09		30269613	125000947	53	2414											
PRDM16	63976	genome.wustl.edu	37	chr1	3321419	3321419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgtcccacgacagcgGcaaacgcttcgaatgtgaaa	10	12	0	2			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:3321419G>A	ENST00000270722.5	+	7	1050	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	PRDM16_ENST00000511072.1_Missense_Mutation_p.G335D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.G334D|PRDM16_ENST00000442529.2_Missense_Mutation_p.G334D|PRDM16_ENST00000378398.3_Missense_Mutation_p.G335D|PRDM16_ENST00000514189.1_Missense_Mutation_p.G335D|PRDM16_ENST00000441472.2_Missense_Mutation_p.G334D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	334					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)		CACGACAGCGGCAAACGCTTC	0.642			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								ENSG00000142611						73	81	78					1																	3321419		2187	4286	6473	PRDM16	SO:0001583	missense	0			-	HGNC	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.1001G>A	1.37:g.3321419G>A	ENSP00000270722:p.Gly334Asp	Somatic	0	68	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G334D	ENST00000270722.5	37	c.1001	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.258413	0.95368	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	4.63	4.63	0.57726	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134990	0.32687	U	0.005762	T	0.20292	0.0488	N	0.12663	0.25	0.80722	D	1	D;D;D;B	0.89917	1.0;0.992;0.975;0.209	D;P;P;B	0.91635	0.999;0.73;0.776;0.05	T	0.19614	-1.0300	10	0.30854	T	0.27	.	16.2418	0.82411	0.0:0.0:1.0:0.0	.	334;334;334;334	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	D	335;335;334;334;334;335;334;150;150;143	ENSP00000426975:G335D;ENSP00000367651:G335D;ENSP00000407968:G334D;ENSP00000405253:G334D;ENSP00000367643:G334D;ENSP00000421400:G335D;ENSP00000270722:G334D;ENSP00000422504:G150D;ENSP00000425796:G143D	ENSP00000270722:G334D	G	+	2	0	PRDM16	3311279	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.681000	0.84073	2.107000	0.64212	0.467000	0.42956	GGC	-	pfscan_Znf_C2H2		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	G	NM_022114	-		3321419	1	no_errors	ENST00000270722	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3321419	G	A	3321419	3	1	40	1	0	0	0	0	1	0	0	0	12462	1203	42	2	1027	2	PRDM16	1	3321419	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09		3321419	245929202	1	2415											
EPHB2	2048	genome.wustl.edu	37	chr1	23233390	23233390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgtcgtgaccaagagCacacctgtgatgatcatcac	12	10	2	4			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:23233390C>T	ENST00000400191.3	+	11	2094	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	EPHB2_ENST00000374627.1_Silent_p.S687S|EPHB2_ENST00000374632.3_Silent_p.S693S|EPHB2_ENST00000374630.3_Silent_p.S692S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGACCAAGAGCACACCTGTGA	0.602																																																	0								ENSG00000133216						97	69	78					1																	23233390		2203	4300	6503	EPHB2	SO:0001819	synonymous_variant	0			-	HGNC	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2076C>T	1.37:g.23233390C>T		Somatic	0	35	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S692	ENST00000400191.3	37	c.2076		1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	protein_coding	OTTHUMT00000008060.2	C	NM_017449	-		23233390	1	no_errors	ENST00000400191	ensembl	human	known	74_37	silent	SNP	1.000	T	T	23233390	C	T	23233390	2	4	40	1	0	0	0	0	0	0	0	1	5177	709	25	2		2	EPHB2	1	23233390	Silent	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	19911971	23233390	226017231	2	2416											
RAVER2	55225	genome.wustl.edu	37	chr1	65247087	65247087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggatgaaggtagttacGttggtggctttgcagtggtt	15	5	0	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:65247087G>A	ENST00000294428.3	+	4	889	c.811G>A	c.(811-813)Gtt>Att	p.V271I	RAVER2_ENST00000371072.4_Missense_Mutation_p.V271I|RAVER2_ENST00000430964.2_De_novo_Start_OutOfFrame			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	271	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGGTAGTTACGTTGGTGGCTT	0.418																																																	0								ENSG00000162437						142	142	142					1																	65247087		2006	4174	6180	RAVER2	SO:0001583	missense	0			-	HGNC	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.811G>A	1.37:g.65247087G>A	ENSP00000294428:p.Val271Ile	Somatic	0	68	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	51	40.00	Q6P141|Q9NPV7	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V271I	ENST00000294428.3	37	c.811		1	.	.	.	.	.	.	.	.	.	.	G	4.508	0.094166	0.08632	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.15603	2.41;2.41	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.390908	0.25836	N	0.027987	T	0.04137	0.0115	N	0.22421	0.69	0.46113	D	0.998875	B;B	0.11235	0.004;0.003	B;B	0.10450	0.005;0.003	T	0.34527	-0.9825	10	0.17832	T	0.49	-16.6374	8.0904	0.30797	0.0853:0.0:0.7557:0.159	.	271;271	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	271	ENSP00000360112:V271I;ENSP00000294428:V271I	ENSP00000294428:V271I	V	+	1	0	RAVER2	65019675	0.190000	0.23276	0.039000	0.18376	0.010000	0.07245	1.237000	0.32695	2.562000	0.86427	0.591000	0.81541	GTT	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.418	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	protein_coding		G	NM_018211	-		65247087	1	no_errors	ENST00000294428	ensembl	human	known	74_37	missense	SNP	0.016	A	A	65247087	G	A	65247087	3	1	40	1	0	0	0	0	1	0	0	0	13103	1145	40	1	825	1	RAVER2	1	65247087	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	42013697	65247087	184003534	3	2417											
HFM1	164045	genome.wustl.edu	37	chr1	91818856	91818856	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgcatacttctgtaaCctatttaaaaataccataaa	3	7	1	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:91818856C>T	ENST00000370425.3	-	14	1784	c.1686G>A	c.(1684-1686)agG>agA	p.R562R	HFM1_ENST00000462405.1_5'Flank|HFM1_ENST00000370424.3_Splice_Site_p.R241R|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	562	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACTTCTGTAACCTATTTAAAA	0.274																																																	0								ENSG00000162669						68	65	66					1																	91818856		1782	4038	5820	HFM1	SO:0001630	splice_region_variant	0			-	HGNC	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1686-1G>A	1.37:g.91818856C>T		Somatic	0	34	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B1B0B6|Q8N9Q0	Silent	SNP							pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R562	ENST00000370425.3	37	c.1686	CCDS30769.2	1																																																																																			-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.274	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	protein_coding	OTTHUMT00000316716.2	C	NM_001017975	-	Silent	91818856	-1	no_errors	ENST00000370425	ensembl	human	known	74_37	silent	SNP	1.000	T	T	91818856	C	T	91818856	5	4	40	1	0	0	0	0	0	0	1	0	7085	521	18	2	2725	2	HFM1	1	91818856	Splice_Site	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	26571769	91818856	157431765	4	2418											
LOR	4014	genome.wustl.edu	37	chr1	153233991	153233992	+	In_Frame_Ins	INS	-	-	CTCTGGCGGCGG													ggcggctctgtctgcggctaINSctctggcggcggctctggct					rs11272549|rs547333583|rs561634896	byFrequency	TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:153233991_153233992insCTCTGGCGGCGG	ENST00000368742.3	+	2	623_624	c.566_567insCTCTGGCGGCGG	c.(565-570)tactct>taCTCTGGCGGCGGctct	p.194_195insGGGS		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	194					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggcg	0.743														3247	0.648363	0.6664	0.7954	5008	,	,		5032	0.4563		0.7147	False		,,,				2504	0.6493																0								ENSG00000203782			178,190		86,6,92						-7.1	0		dbSNP_120	1	749,435		350,49,193	no	coding	LOR	NM_000427.2		436,55,285	A1A1,A1R,RR		36.7399,48.3696,40.2706				927,625				LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.567_578dupCTCTGGCGGCGG	1.37:g.153233991_153233992insCTCTGGCGGCGG	ENSP00000357731:p.Gly191_Ser194dup	Somatic					0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T869|Q5XKF8	In_Frame_Ins	INS							NULL	p.193in_frame_insGSGG	ENST00000368742.3	37	c.566_567	CCDS30870.1	1																																																																																			-	NULL		0.743	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233992	1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.014:0.200	CTCTGGCGGCGG	CTCTGGCGGCGG	153233992	-	CTCTGGCGGCGG	153233991	7	5	40	1	0	1	1	0	0	0	0	0	8899	391	14	0	568	0	LOR	1	153233991	In_Frame_Ins	INS	-	TCGA-DX-A3LT-01A-12D-A21Q-09	61415135	153233991	96016630	5	2419											
PKLR	5313	genome.wustl.edu	37	chr1	155269901	155269901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttaccgatggtggcaaTgatgctggtactgcgagcag	15	8	0	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:155269901T>C	ENST00000342741.4	-	2	309	c.271A>G	c.(271-273)Att>Gtt	p.I91V	PKLR_ENST00000392414.3_Missense_Mutation_p.I60V	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	91					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ATGGTGGCAATGATGCTGGTA	0.552																																																	0								ENSG00000143627						70	69	69					1																	155269901		2203	4300	6503	PKLR	SO:0001583	missense	0			-	HGNC	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.271A>G	1.37:g.155269901T>C	ENSP00000339933:p.Ile91Val	Somatic	0	70	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36	O75758|P11973	Missense_Mutation	SNP							pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.I91V	ENST00000342741.4	37	c.271	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785272	0.31593	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99207	-5.56;-5.56	4.02	4.02	0.46733	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.055870	0.64402	D	0.000001	D	0.92273	0.7549	N	0.10645	0.015	0.47737	D	0.999504	B;B	0.19935	0.04;0.01	B;B	0.26864	0.074;0.074	D	0.89859	0.4015	10	0.14252	T	0.57	-11.6263	5.9764	0.19382	0.0:0.1172:0.0:0.8828	.	91;82	P30613;B1AVT1	KPYR_HUMAN;.	V	116;60;91;27	ENSP00000376214:I60V;ENSP00000339933:I91V	ENSP00000271946:I27V	I	-	1	0	PKLR	153536525	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.669000	0.37492	1.663000	0.50791	0.472000	0.43445	ATT	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase		0.552	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	protein_coding	OTTHUMT00000087407.2	T	NM_000298	-		155269901	-1	no_errors	ENST00000342741	ensembl	human	known	74_37	missense	SNP	1.000	C	C	155269901	T	C	155269901	3	2	40	1	0	0	0	0	1	0	0	0	11978	1464	51	5	1493	5	PKLR	1	155269901	Missense_Mutation	SNP	T	TCGA-DX-A3LT-01A-12D-A21Q-09	2035910	155269901	93980720	6	2420											
ASTN1	460	genome.wustl.edu	37	chr1	176903441	176903441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaatctgcacgagatgTagccccatccagcgagtgga	10	12	1	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:176903441T>C	ENST00000367654.3	-	16	2753	c.2542A>G	c.(2542-2544)Aca>Gca	p.T848A	ASTN1_ENST00000367657.3_Missense_Mutation_p.T840A|ASTN1_ENST00000424564.2_Missense_Mutation_p.T840A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T840A|ASTN1_ENST00000281881.3_5'Flank	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	848					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T840A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACGAGATGTAGCCCCATCC	0.527																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000152092						93	80	84					1																	176903441		2203	4300	6503	ASTN1	SO:0001583	missense	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2542A>G	1.37:g.176903441T>C	ENSP00000356626:p.Thr848Ala	Somatic	0	28	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.T848A	ENST00000367654.3	37	c.2542		1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.809980	0.90707	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	L	0.40543	1.245	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	T	0.63440	-0.6637	10	0.72032	D	0.01	-17.3327	16.0098	0.80391	0.0:0.0:0.0:1.0	.	840;840	O14525-2;B1AJS1	.;.	A	840;840;848;840;840	ENSP00000356629:T840A;ENSP00000354536:T840A;ENSP00000356626:T848A;ENSP00000395041:T840A	ENSP00000354536:T840A	T	-	1	0	ASTN1	175170064	1.000000	0.71417	0.989000	0.46669	0.950000	0.60333	7.517000	0.81783	2.254000	0.74563	0.533000	0.62120	ACA	-	smart_MACPF		0.527	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		T	NM_004319	-		176903441	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	SNP	0.998	C	C	176903441	T	C	176903441	3	2	40	1	0	0	0	0	1	0	0	0	1064	1638	57	5	1402	5	ASTN1	1	176903441	Missense_Mutation	SNP	T	TCGA-DX-A3LT-01A-12D-A21Q-09	21633540	176903441	72347180	7	2421											
PGBD2	267002	genome.wustl.edu	37	chr1	249212342	249212348	+	Frame_Shift_Del	DEL	TTGCCTG	TTGCCTG	-													ccttgccttccggagatacaTtgcctgtgtgtatctggaga					rs374563843		TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	TTGCCTG	TTGCCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr1:249212342_249212348delTTGCCTG	ENST00000329291.5	+	3	1706_1712	c.1559_1565delTTGCCTG	c.(1558-1566)attgcctgtfs	p.IAC520fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.IAC269fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.IAC517fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	520										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CGGAGATACATTGCCTGTGTGTATCTG	0.522																																																	0								ENSG00000185220																																			PGBD2	SO:0001589	frameshift_variant	0				HGNC	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1559_1565delTTGCCTG	1.37:g.249212342_249212348delTTGCCTG	ENSP00000331643:p.Ile520fs	Somatic					0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KVR8|Q6MZF8	Frame_Shift_Del	DEL							NULL	p.I520fs	ENST00000329291.5	37	c.1559_1565	CCDS31128.1	1																																																																																			-	NULL		0.522	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	protein_coding	OTTHUMT00000097318.1	TTGCCTG				249212348	1	no_errors	ENST00000329291	ensembl	human	known	74_37	frame_shift_del	DEL	0.060:0.048:0.922:0.964:0.963:0.966:0.961	-	-	249212348	TTGCCTG	-	249212342	7	5	40	1	0	1	0	1	0	0	0	0	11783	1493	52	0	1565	0	PGBD2	1	249212342	Frame_Shift_Del	DEL	TTGCCTG	TCGA-DX-A3LT-01A-12D-A21Q-09	72308901	249212342	38279	8	2422											
GEN1	348654	genome.wustl.edu	37	chr2	17962592	17962592	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccatacttagtgtaaaaGaatcttgtattgctaacagt	7	6	1	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr2:17962592G>T	ENST00000381254.2	+	14	2327	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*	GEN1_ENST00000317402.7_Nonsense_Mutation_p.E705*|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	705					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E705*(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGTGTAAAAGAATCTTGTAT	0.338								Homologous recombination																																									1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000178295						101	112	108					2																	17962592		2203	4300	6503	GEN1	SO:0001587	stop_gained	0			-	HGNC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2113G>T	2.37:g.17962592G>T	ENSP00000370653:p.Glu705*	Somatic	0	29	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q17RS9|Q6ZN37	Nonsense_Mutation	SNP							pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.E705*	ENST00000381254.2	37	c.2113	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051865	0.75960	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	.	.	.	5.41	2.41	0.29592	.	0.461525	0.18472	N	0.140200	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-7.5156	7.7641	0.28970	0.1458:0.3712:0.483:0.0	.	.	.	.	X	705;705;342	.	ENSP00000318977:E705X	E	+	1	0	GEN1	17826073	0.896000	0.30565	0.013000	0.15412	0.014000	0.08584	1.615000	0.36922	0.763000	0.33175	0.655000	0.94253	GAA	-	NULL		0.338	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	protein_coding	OTTHUMT00000241661.2	G	NM_182625	-		17962592	1	no_errors	ENST00000317402	ensembl	human	known	74_37	nonsense	SNP	0.005	T	T	17962592	G	T	17962592	4	4	40	1	0	0	0	0	0	1	0	0	6337	943	33	3	2163	3	GEN1	2	17962592	Nonsense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09		17962592	225236781	9	2423											
DCLK3	85443	genome.wustl.edu	37	chr3	36759633	36759633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggatatagaggatcaCgccagcagcccacatgtcca	10	13	1	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr3:36759633C>T	ENST00000416516.2	-	4	2111	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TAGAGGATCACGCCAGCAGCC	0.547																																																	0								ENSG00000163673						145	159	154					3																	36759633		2142	4280	6422	DCLK3	SO:0001583	missense	0			-	HGNC	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1621G>A	3.37:g.36759633C>T	ENSP00000394484:p.Val541Met	Somatic	0	40	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V541M	ENST00000416516.2	37	c.1621	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309393	0.60414	.	.	ENSG00000163673	ENST00000416516	T	0.51817	0.69	5.51	5.51	0.81932	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	0.30159	N	0.010275	T	0.77089	0.4079	M	0.92026	3.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.81722	-0.0803	10	0.87932	D	0	.	19.7913	0.96458	0.0:1.0:0.0:0.0	.	541	Q9C098	DCLK3_HUMAN	M	541	ENSP00000394484:V541M	ENSP00000394484:V541M	V	-	1	0	DCLK3	36734637	1.000000	0.71417	0.960000	0.40013	0.060000	0.15804	6.079000	0.71291	2.765000	0.95021	0.555000	0.69702	GTG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.547	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	protein_coding	OTTHUMT00000341727.1	C	XM_047355	-		36759633	-1	no_errors	ENST00000416516	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36759633	C	T	36759633	3	4	40	1	0	0	0	0	1	0	0	0	4295	536	19	1	333	1	DCLK3	3	36759633	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		36759633	161262797	10	2424											
EPHB1	2047	genome.wustl.edu	37	chr3	134644703	134644703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcagagctgggctggaCggccaatcctgcgtccgggg	16	12	0	1	rs536029159		TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr3:134644703C>T	ENST00000398015.3	+	2	474	c.104C>T	c.(103-105)aCg>aTg	p.T35M	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	35	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)			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						CTGGGCTGGACGGCCAATCCT	0.458													C|||	1	0.000199681	0	0	5008	,	,		20439	0.001		0	False		,,,				2504	0																0								ENSG00000154928																																			EPHB1	SO:0001583	missense	0			-	HGNC	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.104C>T	3.37:g.134644703C>T	ENSP00000381097:p.Thr35Met	Somatic	0	35	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	19	61.22	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T35M	ENST00000398015.3	37	c.104	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735981	0.49045	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	4.33	4.33	0.51752	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.067175	0.56097	D	0.000023	T	0.14442	0.0349	L	0.48642	1.525	0.80722	D	1	D;D	0.64830	0.994;0.988	D;P	0.63793	0.918;0.797	T	0.02391	-1.1166	10	0.40728	T	0.16	.	17.0176	0.86423	0.0:1.0:0.0:0.0	.	35;35	B5A969;P54762	.;EPHB1_HUMAN	M	13;35;13;13;13	ENSP00000417435:T13M;ENSP00000381097:T35M;ENSP00000419688:T13M;ENSP00000417216:T13M;ENSP00000418352:T13M	ENSP00000381097:T35M	T	+	2	0	EPHB1	136127393	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	5.278000	0.65592	2.253000	0.74438	0.555000	0.69702	ACG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.458	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	protein_coding	OTTHUMT00000357671.1	C	NM_004441	-		134644703	1	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134644703	C	T	134644703	3	4	40	1	0	0	0	0	1	0	0	0	5176	536	19	1	110	1	EPHB1	3	134644703	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	97885070	134644703	63377727	11	2425											
SENP2	59343	genome.wustl.edu	37	chr3	185316763	185316763	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggtattttcgaactcttcAtcttgtgaactgacaggttc	8	8	3	2			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr3:185316763A>T	ENST00000296257.5	+	4	549	c.309A>T	c.(307-309)tcA>tcT	p.S103S	SENP2_ENST00000427465.2_Intron|SENP2_ENST00000545472.1_Silent_p.S93S|SENP2_ENST00000465201.1_3'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	103					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CGAACTCTTCATCTTGTGAAC	0.363																																																	0								ENSG00000163904						132	125	128					3																	185316763		2203	4300	6503	SENP2	SO:0001819	synonymous_variant	0			-	HGNC	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.309A>T	3.37:g.185316763A>T		Somatic	0	48	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	20	65.52	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP							NULL	p.I59F	ENST00000296257.5	37	c.175	CCDS33902.1	3																																																																																			-	NULL		0.363	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	protein_coding	OTTHUMT00000345159.1	A	NM_021627	-		185316763	1	no_errors	ENST00000439684	ensembl	human	known	74_37	missense	SNP	0.965	T	T	185316763	A	T	185316763	2	4	40	1	0	0	0	0	0	0	0	1	14055	204	8	5		5	SENP2	3	185316763	Silent	SNP	A	TCGA-DX-A3LT-01A-12D-A21Q-09	50672060	185316763	12705667	12	2426											
POLN	353497	genome.wustl.edu	37	chr4	2181178	2181178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaattctgggatctagccCtataaaatcagcaactgaag	8	9	3	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr4:2181178C>T	ENST00000511885.2	-	8	1389	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.G346R			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	346					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGATCTAGCCCTATAAAATCA	0.363								DNA polymerases (catalytic subunits)																																									0								ENSG00000130997						67	65	66					4																	2181178		2203	4300	6503	POLN	SO:0001583	missense	0			-	HGNC	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1036G>A	4.37:g.2181178C>T	ENSP00000435506:p.Gly346Arg	Somatic	0	37	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.G346R	ENST00000511885.2	37	c.1036	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531552	0.64972	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313	T;T	0.04454	3.62;3.62	5.61	5.61	0.85477	.	0.187268	0.35124	N	0.003437	T	0.16981	0.0408	M	0.63428	1.95	0.27464	N	0.953058	D;D	0.71674	0.998;0.988	D;P	0.65010	0.931;0.629	T	0.01557	-1.1325	10	0.41790	T	0.15	-20.53	15.1521	0.72709	0.0:1.0:0.0:0.0	.	346;346	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	R	346;346;37	ENSP00000435506:G346R;ENSP00000372316:G346R	ENSP00000253313:G37R	G	-	1	0	POLN	2150976	0.886000	0.30341	0.876000	0.34364	0.800000	0.45204	2.890000	0.48609	2.656000	0.90262	0.561000	0.74099	GGG	-	superfamily_RNaseH-like_dom		0.363	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	protein_coding	OTTHUMT00000205684.2	C	NM_181808	-		2181178	-1	no_errors	ENST00000382865	ensembl	human	known	74_37	missense	SNP	0.564	T	T	2181178	C	T	2181178	3	4	40	1	0	0	0	0	1	0	0	0	12209	681	24	2	1742	2	POLN	4	2181178	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		2181178	188973098	13	2427											
GPR78	27201	genome.wustl.edu	37	chr4	8583114	8583114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggggacagtcgctGgccttctcaggcgctgcact	14	13	1	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr4:8583114G>A	ENST00000382487.4	+	1	822	c.405G>A	c.(403-405)ctG>ctA	p.L135L	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	135					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						GACAGTCGCTGGCCTTCTCAG	0.706																																																	0								ENSG00000155269						11	13	12					4																	8583114		2175	4261	6436	GPR78	SO:0001819	synonymous_variant	0			-	HGNC	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.405G>A	4.37:g.8583114G>A		Somatic	0	29	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q8NGV3	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L135	ENST00000382487.4	37	c.405	CCDS3403.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.706	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	protein_coding	OTTHUMT00000359201.1	G		-		8583114	1	no_errors	ENST00000382487	ensembl	human	known	74_37	silent	SNP	1.000	A	A	8583114	G	A	8583114	2	1	40	1	0	0	0	0	0	0	0	1	6712	1335	47	2		2	GPR78	4	8583114	Silent	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	6401936	8583114	182571162	14	2428											
SLC4A4	8671	genome.wustl.edu	37	chr4	72412086	72412086	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagcagggtatcactTggatctcttttgggtggcca	14	7	2	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr4:72412086T>A	ENST00000264485.5	+	19	2579	c.2462T>A	c.(2461-2463)tTg>tAg	p.L821*	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Nonsense_Mutation_p.L777*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.L821*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	821					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGGTATCACTTGGATCTCTTT	0.438																																																	0								ENSG00000080493						259	213	228					4																	72412086		2203	4300	6503	SLC4A4	SO:0001587	stop_gained	0			-	HGNC	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2462T>A	4.37:g.72412086T>A	ENSP00000264485:p.Leu821*	Somatic	0	117	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	62	27.06	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L821*	ENST00000264485.5	37	c.2462	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	T	42	9.480197	0.99183	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	.	.	.	X	821;821;777	.	ENSP00000264485:L821X	L	+	2	0	SLC4A4	72630950	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.040000	0.89188	2.104000	0.64026	0.528000	0.53228	TTG	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	protein_coding	OTTHUMT00000362090.1	T	NM_003759	-		72412086	1	no_errors	ENST00000425175	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	72412086	T	A	72412086	4	1	40	1	0	0	0	0	0	1	0	0	14664	1821	63	5	2653	5	SLC4A4	4	72412086	Nonsense_Mutation	SNP	T	TCGA-DX-A3LT-01A-12D-A21Q-09	63828972	72412086	118742190	15	2429											
AFP	174	genome.wustl.edu	37	chr4	74315183	74315183	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttgaatgccaagataaagGagtaagttgctctagaattt	9	5	2	3			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr4:74315183G>T	ENST00000395792.2	+	9	1290	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V	AFP_ENST00000226359.2_Splice_Site_p.G397V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	397	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAAGATAAAGGAGTAAGTTGC	0.373									Alpha-Fetoprotein, Hereditary Persistence of																																								0								ENSG00000081051						71	73	72					4																	74315183		2203	4300	6503	AFP	SO:0001630	splice_region_variant	0	Familial Cancer Database	HPAFP	-	HGNC	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1191+1G>T	4.37:g.74315183G>T		Somatic	0	40	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	B2RBU3	Missense_Mutation	SNP							pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB	p.G397V	ENST00000395792.2	37	c.1190	CCDS3556.1	4	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085623	0.20390	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.73469	-0.75;-0.75	5.87	4.07	0.47477	Serum albumin-like (1);Serum albumin, N-terminal (2);	0.468657	0.24409	N	0.038767	T	0.57829	0.2080	N	0.21282	0.65	0.49915	D	0.999835	B;B	0.26400	0.148;0.1	B;B	0.30029	0.11;0.054	T	0.51608	-0.8684	10	0.22109	T	0.4	.	7.7647	0.28972	0.0859:0.0:0.7438:0.1702	.	239;397	B4DMX4;P02771	.;FETA_HUMAN	V	397	ENSP00000379138:G397V;ENSP00000226359:G397V	ENSP00000226359:G397V	G	+	2	0	AFP	74534047	1.000000	0.71417	0.988000	0.46212	0.066000	0.16364	0.649000	0.24843	1.564000	0.49628	0.655000	0.94253	GGA	-	superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP		0.373	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	protein_coding	OTTHUMT00000252284.3	G		-	Missense_Mutation	74315183	1	no_errors	ENST00000395792	ensembl	human	known	74_37	missense	SNP	0.993	T	T	74315183	G	T	74315183	5	4	40	1	0	0	0	0	0	0	1	0	363	1188	41	3	1224	3	AFP	4	74315183	Splice_Site	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	1903097	74315183	116839093	16	2430											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834759	27834759	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcttggttgcctttttCggtttggcagcggccttggc	14	10	1	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr6:27834759C>T	ENST00000331442.3	-	1	600	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	183					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCTTTTTCGGTTTGGCAG	0.572																																																	0								ENSG00000184357						77	77	77					6																	27834759		2203	4300	6503	HIST1H1B	SO:0001819	synonymous_variant	0			-	HGNC	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.549G>A	6.37:g.27834759C>T		Somatic	0	64	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	21	46.15	Q14529|Q3MJ42	Silent	SNP							pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.P183	ENST00000331442.3	37	c.549	CCDS4635.1	6																																																																																			-	prints_Histone_H5		0.572	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	protein_coding	OTTHUMT00000043371.1	C	NM_005322	-		27834759	-1	no_errors	ENST00000331442	ensembl	human	known	74_37	silent	SNP	0.634	T	T	27834759	C	T	27834759	2	4	40	1	0	0	0	0	0	0	0	1	7125	871	31	1		1	HIST1H1B	6	27834759	Silent	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		27834759	143280308	17	2431											
BAI3	577	genome.wustl.edu	37	chr6	70034783	70034783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtatctgcacaaccaccaCtgcatttttgcactttttct	5	12	2	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr6:70034783C>A	ENST00000370598.1	+	21	3655	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	BAI3_ENST00000238918.8_Missense_Mutation_p.T151N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	945	Poly-Thr.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAACCACCACTGCATTTTTG	0.418																																																	0								ENSG00000135298						142	130	134					6																	70034783		2203	4300	6503	BAI3	SO:0001583	missense	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2834C>A	6.37:g.70034783C>A	ENSP00000359630:p.Thr945Asn	Somatic	0	122	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	106	27.40	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T945N	ENST00000370598.1	37	c.2834	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.330994	0.95733	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.44881	0.91;0.91	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.66439	2.03	0.80722	D	1	D;P;D	0.63880	0.992;0.872;0.993	D;P;D	0.65233	0.933;0.659;0.909	T	0.58869	-0.7560	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	151;945;945	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	N	945;151	ENSP00000359630:T945N;ENSP00000238918:T151N	ENSP00000238918:T151N	T	+	2	0	BAI3	70091504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	ACT	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	C		-		70034783	1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70034783	C	A	70034783	3	1	40	1	0	0	0	0	1	0	0	0	1300	565	20	3	2908	3	BAI3	6	70034783	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	42200024	70034783	101080284	18	2432											
TNPO3	23534	genome.wustl.edu	37	chr7	128640525	128640525	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagataagcagcagctccagAgttcgaaggtccccaagacc	10	13	0	3			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr7:128640525A>C	ENST00000265388.5	-	7	1112	c.969T>G	c.(967-969)acT>acG	p.T323T	TNPO3_ENST00000482320.1_Silent_p.T257T|TNPO3_ENST00000471234.1_Silent_p.T323T|TNPO3_ENST00000393245.1_Silent_p.T323T|TNPO3_ENST00000471166.1_Silent_p.T323T			Q9Y5L0	TNPO3_HUMAN	transportin 3	323					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCAGCTCCAGAGTTCGAAGGT	0.413																																					Pancreas(147;583 2585 39696 52331)												0								ENSG00000064419						83	89	87					7																	128640525		2203	4300	6503	TNPO3	SO:0001819	synonymous_variant	0			-	HGNC	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.969T>G	7.37:g.128640525A>C		Somatic	0	22	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP							pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.T323	ENST00000265388.5	37	c.969	CCDS5809.1	7																																																																																			-	superfamily_ARM-type_fold		0.413	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	A	NM_012470	-		128640525	-1	no_errors	ENST00000393245	ensembl	human	known	74_37	silent	SNP	0.999	C	C	128640525	A	C	128640525	2	2	40	1	0	0	0	0	0	0	0	1	16344	291	11	5		5	TNPO3	7	128640525	Silent	SNP	A	TCGA-DX-A3LT-01A-12D-A21Q-09		128640525	30498138	19	2433											
AP2A2	161	genome.wustl.edu	37	chr11	993284	993284	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtttgtgcttcgcagGctcttcaggctcccgcgtgc	11	13	3	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr11:993284G>A	ENST00000448903.2	+	12	1594	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	AP2A2_ENST00000332231.5_Splice_Site_p.A486T|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	485					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTTCGCAGGCTCTTCAGGC	0.632																																																	0								ENSG00000183020						31	36	35					11																	993284		1989	4157	6146	AP2A2	SO:0001630	splice_region_variant	0			-	HGNC	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1453-1G>A	11.37:g.993284G>A		Somatic	0	61	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.62	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.A486T	ENST00000448903.2	37	c.1456	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439772	0.43326	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.26373	1.74;1.74	3.66	3.66	0.41972	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.85130	0.981;0.997;0.884	T	0.60286	-0.7293	9	.	.	.	-11.868	16.226	0.82293	0.0:0.0:1.0:0.0	.	224;486;485	B7Z1Q4;O94973-2;O94973	.;.;AP2A2_HUMAN	T	485;486;486;222;225	ENSP00000413234:A485T;ENSP00000327694:A486T	.	A	+	1	0	AP2A2	983284	1.000000	0.71417	0.807000	0.32361	0.265000	0.26407	7.837000	0.86796	1.979000	0.57680	0.462000	0.41574	GCT	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.632	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	protein_coding	OTTHUMT00000385431.2	G	NM_012305	-	Missense_Mutation	993284	1	no_errors	ENST00000332231	ensembl	human	known	74_37	missense	SNP	1.000	A	A	993284	G	A	993284	5	1	40	1	0	0	0	0	0	0	1	0	740	1217	42	2	1499	2	AP2A2	11	993284	Splice_Site	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09		993284	134013232	20	2434			1	27		3	3	92	G		6.498891e-09
AP2A2	161	genome.wustl.edu	37	chr11	993358	993358	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgggggagtttggaaacttGatagctggagacccgagatc	15	7	0	3			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr11:993358G>C	ENST00000448903.2	+	12	1668	c.1527G>C	c.(1525-1527)ttG>ttC	p.L509F	AP2A2_ENST00000332231.5_Missense_Mutation_p.L510F|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	509					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TTGGAAACTTGATAGCTGGAG	0.637																																																	0								ENSG00000183020						40	46	44					11																	993358		1930	4140	6070	AP2A2	SO:0001583	missense	0			-	HGNC	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1527G>C	11.37:g.993358G>C	ENSP00000413234:p.Leu509Phe	Somatic	0	62	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	65	14.29	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.L510F	ENST00000448903.2	37	c.1530	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131336	0.21041	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.39406	1.08;1.08	3.51	3.51	0.40186	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.65903	0.2736	M	0.87038	2.855	0.58432	D	0.999996	D;B;B	0.69078	0.997;0.304;0.238	D;B;B	0.77557	0.99;0.15;0.233	T	0.71368	-0.4614	10	0.54805	T	0.06	-40.4217	11.9147	0.52759	0.0:0.1768:0.8231:0.0	.	248;510;509	B7Z1Q4;O94973-2;O94973	.;.;AP2A2_HUMAN	F	509;510;510;246;249	ENSP00000413234:L509F;ENSP00000327694:L510F	ENSP00000327694:L510F	L	+	3	2	AP2A2	983358	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	0.668000	0.25127	1.896000	0.54893	0.462000	0.41574	TTG	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.637	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	protein_coding	OTTHUMT00000385431.2	G	NM_012305	-		993358	1	no_errors	ENST00000332231	ensembl	human	known	74_37	missense	SNP	1.000	C	C	993358	G	C	993358	3	2	40	1	0	0	0	0	1	0	0	0	740	1281	45	4	1573	4	AP2A2	11	993358	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	74	993358	134013158	21	2435			1	27		3	3	92	G		6.498891e-09
AP2A2	161	genome.wustl.edu	37	chr11	993375	993375	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgatagctggagacccgaGatccaggtgagaggcccttt	13	10	0	4			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr11:993375G>C	ENST00000448903.2	+	12	1685	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	AP2A2_ENST00000332231.5_Missense_Mutation_p.R516T|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	515					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.R516K(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGACCCGAGATCCAGGTGA	0.657																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000183020						37	41	40					11																	993375		1925	4129	6054	AP2A2	SO:0001583	missense	0			-	HGNC	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1544G>C	11.37:g.993375G>C	ENSP00000413234:p.Arg515Thr	Somatic	0	54	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.R516T	ENST00000448903.2	37	c.1547	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395537	0.25205	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.28454	1.61;1.61	3.51	3.51	0.40186	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	L	0.61218	1.895	0.80722	D	1	D;P;P	0.64830	0.994;0.898;0.91	D;B;P	0.73708	0.981;0.43;0.566	T	0.44817	-0.9303	10	0.21014	T	0.42	-44.1555	15.903	0.79397	0.0:0.0:1.0:0.0	.	254;516;515	B7Z1Q4;O94973-2;O94973	.;.;AP2A2_HUMAN	T	515;516;516;252;255	ENSP00000413234:R515T;ENSP00000327694:R516T	ENSP00000327694:R516T	R	+	2	0	AP2A2	983375	1.000000	0.71417	0.218000	0.23776	0.076000	0.17211	9.709000	0.98729	1.896000	0.54893	0.462000	0.41574	AGA	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.657	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	protein_coding	OTTHUMT00000385431.2	G	NM_012305	-		993375	1	no_errors	ENST00000332231	ensembl	human	known	74_37	missense	SNP	0.970	C	C	993375	G	C	993375	3	2	40	1	0	0	0	0	1	0	0	0	740	942	33	4	1590	4	AP2A2	11	993375	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	17	993375	134013141	22	2436			1	27		3	3	92	G		6.498891e-09
SENP1	29843	genome.wustl.edu	37	chr12	48459425	48459425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgttcttcaatctggCgcaatctttctcgtgctcga	7	13	6	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr12:48459425C>T	ENST00000004980.5	-	11	1551	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	SENP1_ENST00000551330.1_Missense_Mutation_p.R358H|SENP1_ENST00000549595.1_Missense_Mutation_p.R358H|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.R358H|SENP1_ENST00000549518.1_Missense_Mutation_p.R358H			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	358					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTCAATCTGGCGCAATCTTTC	0.338																																																	0								ENSG00000079387						63	56	58					12																	48459425		1848	4077	5925	SENP1	SO:0001583	missense	0			-	HGNC	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1073G>A	12.37:g.48459425C>T	ENSP00000004980:p.Arg358His	Somatic	0	42	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	23.53	A8K7P5|Q86XC8	Missense_Mutation	SNP							pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R358H	ENST00000004980.5	37	c.1073	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	34	5.327461	0.95733	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.25641	-1.0126	10	0.72032	D	0.01	-8.0321	20.017	0.97481	0.0:1.0:0.0:0.0	.	358;358	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	H	358	ENSP00000004980:R358H;ENSP00000394791:R358H;ENSP00000446681:R358H;ENSP00000450076:R358H;ENSP00000447328:R358H	ENSP00000004980:R358H	R	-	2	0	SENP1	46745692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.202000	0.72131	2.832000	0.97577	0.655000	0.94253	CGC	-	NULL		0.338	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	protein_coding	OTTHUMT00000406471.1	C	NM_014554	-		48459425	-1	no_errors	ENST00000004980	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48459425	C	T	48459425	3	4	40	1	0	0	0	0	1	0	0	0	14054	768	27	1	890	1	SENP1	12	48459425	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		48459425	85392470	23	2437											
STAT2	6773	genome.wustl.edu	37	chr12	56743279	56743279	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatgtgcagttcctctgtCacacctagtggcccctggga	11	12	2	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr12:56743279C>T	ENST00000314128.4	-	15	1295	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.V420V|STAT2_ENST00000418572.2_Silent_p.V420V|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	424					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTTCCTCTGTCACACCTAGTG	0.517																																																	0								ENSG00000170581						173	167	169					12																	56743279		2203	4300	6503	STAT2	SO:0001819	synonymous_variant	0			-	HGNC	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1272G>A	12.37:g.56743279C>T		Somatic	0	79	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	1135	73	93.88	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V424	ENST00000314128.4	37	c.1272	CCDS8917.1	12																																																																																			-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.517	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	protein_coding	OTTHUMT00000410277.1	C	NM_005419	-		56743279	-1	no_errors	ENST00000314128	ensembl	human	known	74_37	silent	SNP	0.990	T	T	56743279	C	T	56743279	2	4	40	1	0	0	0	0	0	0	0	1	15272	813	29	2		2	STAT2	12	56743279	Silent	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	8283854	56743279	77108616	24	2438											
GLT8D2	83468	genome.wustl.edu	37	chr12	104397053	104397053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaccacaggaatctcttcTtccagttcttcaggagtctc	6	13	6	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr12:104397053T>G	ENST00000360814.4	-	5	549	c.144A>C	c.(142-144)gaA>gaC	p.E48D	GLT8D2_ENST00000546436.1_Missense_Mutation_p.E48D|GLT8D2_ENST00000548660.1_Missense_Mutation_p.E48D	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	48						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAATCTCTTCTTCCAGTTCTT	0.448																																																	0								ENSG00000120820						185	157	166					12																	104397053		2203	4300	6503	GLT8D2	SO:0001583	missense	0			-	HGNC	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.144A>C	12.37:g.104397053T>G	ENSP00000354053:p.Glu48Asp	Somatic	0	47	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	39	40.30	Q96KA2	Missense_Mutation	SNP							pfam_Glyco_trans_8	p.E48D	ENST00000360814.4	37	c.144	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	t	12.59	1.984196	0.35036	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.32272	1.46;1.46;1.46	5.73	-9.86	0.00473	.	0.318283	0.36703	N	0.002457	T	0.13200	0.0320	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27571	-1.0070	10	0.20519	T	0.43	.	11.3669	0.49677	0.0:0.4436:0.3741:0.1822	.	48	Q9H1C3	GL8D2_HUMAN	D	48	ENSP00000354053:E48D;ENSP00000449750:E48D;ENSP00000447450:E48D	ENSP00000354053:E48D	E	-	3	2	GLT8D2	102921183	0.001000	0.12720	0.083000	0.20561	0.887000	0.51463	-1.684000	0.01932	-2.286000	0.00670	-0.363000	0.07495	GAA	-	NULL		0.448	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	protein_coding	OTTHUMT00000407371.1	T	NM_031302	-		104397053	-1	no_errors	ENST00000360814	ensembl	human	known	74_37	missense	SNP	0.171	G	G	104397053	T	G	104397053	3	3	40	1	0	0	0	0	1	0	0	0	6472	1606	56	5	933	5	GLT8D2	12	104397053	Missense_Mutation	SNP	T	TCGA-DX-A3LT-01A-12D-A21Q-09	47653774	104397053	29454842	25	2439											
AKAP6	9472	genome.wustl.edu	37	chr14	33147640	33147640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttgctgatatgtcaAaagttcattcagtgggaagc	11	5	3	2			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr14:33147640A>G	ENST00000280979.4	+	8	3024	c.2854A>G	c.(2854-2856)Aaa>Gaa	p.K952E	AKAP6_ENST00000557272.1_Missense_Mutation_p.K952E|AKAP6_ENST00000557354.1_Missense_Mutation_p.K952E	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	952					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATATGTCAAAAGTTCATTC	0.413																																					Melanoma(49;821 1200 7288 13647 42351)												0								ENSG00000151320						191	180	184					14																	33147640		2203	4300	6503	AKAP6	SO:0001583	missense	0			-	HGNC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2854A>G	14.37:g.33147640A>G	ENSP00000280979:p.Lys952Glu	Somatic	0	58	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	A7E242|A7E2D4|O15028	Missense_Mutation	SNP							smart_Spectrin/alpha-actinin	p.K952E	ENST00000280979.4	37	c.2854	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798775	0.70567	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.19806	3.39;2.12;2.14	5.0	5.0	0.66597	.	0.078146	0.56097	D	0.000032	T	0.25901	0.0631	N	0.08118	0	0.39895	D	0.973829	D;D	0.76494	0.999;0.997	D;D	0.75020	0.918;0.985	T	0.33369	-0.9871	10	0.62326	D	0.03	-17.2443	13.565	0.61813	1.0:0.0:0.0:0.0	.	952;952	A7E242;Q13023	.;AKAP6_HUMAN	E	952	ENSP00000280979:K952E;ENSP00000450531:K952E;ENSP00000451247:K952E	ENSP00000280979:K952E	K	+	1	0	AKAP6	32217391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.358000	0.73055	2.007000	0.58848	0.477000	0.44152	AAA	-	NULL		0.413	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	A	NM_004274	-		33147640	1	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33147640	A	G	33147640	3	3	40	1	0	0	0	0	1	0	0	0	455	15	1	5	2880	5	AKAP6	14	33147640	Missense_Mutation	SNP	A	TCGA-DX-A3LT-01A-12D-A21Q-09		33147640	74201900	26	2440											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92647634	92647634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttccacagtccctgcccCcgcactcagagcccgccatg	9	19	1	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr15:92647634C>A	ENST00000318445.6	+	4	1085	c.871C>A	c.(871-873)Ccg>Acg	p.P291T	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P291T	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	291					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)	GTCCCTGCCCCCGCACTCAGA	0.617																																																	0								ENSG00000176463						131	111	118					15																	92647634		2198	4298	6496	SLCO3A1	SO:0001583	missense	0			-	HGNC	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.871C>A	15.37:g.92647634C>A	ENSP00000320634:p.Pro291Thr	Somatic	0	90	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	61	27.91	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.P291T	ENST00000318445.6	37	c.871	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492885	0.44352	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649;ENST00000555549	T;T	0.37915	1.17;1.17	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);	0.891618	0.09850	N	0.747740	T	0.34890	0.0913	L	0.36672	1.1	0.44061	D	0.996803	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.003;0.001;0.006	T	0.08889	-1.0700	10	0.25106	T	0.35	.	18.5528	0.91072	0.0:1.0:0.0:0.0	.	233;291;291	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	T	291;291;84;10	ENSP00000320634:P291T;ENSP00000387846:P291T	ENSP00000320634:P291T	P	+	1	0	SLCO3A1	90448638	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	4.252000	0.58785	2.353000	0.79882	0.655000	0.94253	CCG	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.617	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	protein_coding	OTTHUMT00000313529.1	C	NM_013272	-		92647634	1	no_errors	ENST00000318445	ensembl	human	known	74_37	missense	SNP	0.995	A	A	92647634	C	A	92647634	3	1	40	1	0	0	0	0	1	0	0	0	14736	623	22	3	885	3	SLCO3A1	15	92647634	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		92647634	9883758	27	2441											
RNF43	54894	genome.wustl.edu	37	chr17	56435245	56435245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggtactggggcagatgCtggaggcgtcaactgggcca	17	9	1	1	rs35946293		TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr17:56435245C>A	ENST00000584437.1	-	8	3847	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	RNF43_ENST00000577716.1_Missense_Mutation_p.S631I|RNF43_ENST00000581868.1_Missense_Mutation_p.S504I|RNF43_ENST00000577625.1_Missense_Mutation_p.S504I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.S590I|RNF43_ENST00000407977.2_Missense_Mutation_p.S631I|RNF43_ENST00000583753.1_Missense_Mutation_p.S590I			Q68DV7	RNF43_HUMAN	ring finger protein 43	631	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCAGATGCTGGAGGCGTC	0.647																																																	0								ENSG00000108375						64	74	70					17																	56435245		2201	4296	6497	RNF43	SO:0001583	missense	0			-	HGNC		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1892G>T	17.37:g.56435245C>A	ENSP00000463069:p.Ser631Ile	Somatic	0	68	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	47.54	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.S631I	ENST00000584437.1	37	c.1892	CCDS11607.1	17	.	.	.	.	.	.	.	.	.	.	C	6.476	0.455964	0.12283	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.09163	3.15;3.01	5.18	0.772	0.18510	.	0.707659	0.14067	N	0.343638	T	0.07234	0.0183	L	0.27053	0.805	0.09310	N	1	P;P;B	0.47677	0.571;0.899;0.435	B;B;B	0.41988	0.206;0.372;0.102	T	0.27297	-1.0078	10	0.56958	D	0.05	-11.4638	5.0337	0.14423	0.0:0.583:0.1513:0.2657	.	590;631;631	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	I	631;590	ENSP00000385328:S631I;ENSP00000441969:S590I	ENSP00000385328:S631I	S	-	2	0	RNF43	53790244	0.000000	0.05858	0.019000	0.16419	0.137000	0.21094	-0.814000	0.04486	0.188000	0.20168	0.205000	0.17691	AGC	-	NULL		0.647	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	protein_coding	OTTHUMT00000444713.1	C	NM_017763	-		56435245	-1	no_errors	ENST00000407977	ensembl	human	known	74_37	missense	SNP	0.002	A	A	56435245	C	A	56435245	3	1	40	1	0	0	0	0	1	0	0	0	13503	797	28	3	467	3	RNF43	17	56435245	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		56435245	24759965	28	2442											
ZNF708	7562	genome.wustl.edu	37	chr19	21477333	21477333	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttatgaaagactttcacGtatttgtcacactgaactat	5	7	2	3			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr19:21477333G>T	ENST00000356929.3	-	4	632	c.435C>A	c.(433-435)taC>taA	p.Y145*		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	81					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)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AGACTTTCACGTATTTGTCAC	0.363																																																	0								ENSG00000182141						146	132	137					19																	21477333		2203	4300	6503	ZNF708	SO:0001587	stop_gained	0			-	HGNC	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.435C>A	19.37:g.21477333G>T	ENSP00000349401:p.Tyr145*	Somatic	0	54	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q6ZMR0	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y145*	ENST00000356929.3	37	c.435	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	14.46	2.541518	0.45280	.	.	ENSG00000182141	ENST00000356929	.	.	.	1.07	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	5.7143	0.17952	0.3975:0.0:0.6025:0.0	.	.	.	.	X	145	.	ENSP00000349401:Y145X	Y	-	3	2	ZNF708	21269173	0.001000	0.12720	0.012000	0.15200	0.011000	0.07611	0.959000	0.29240	-0.491000	0.06697	-0.522000	0.04353	TAC	-	pfscan_Znf_C2H2		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	protein_coding	OTTHUMT00000463953.1	G	NM_021269	-		21477333	-1	no_errors	ENST00000356929	ensembl	human	known	74_37	nonsense	SNP	0.136	T	T	21477333	G	T	21477333	4	4	40	1	0	0	0	0	0	1	0	0	18119	1140	40	3	1260	3	ZNF708	19	21477333	Nonsense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09		21477333	37651650	29	2443											
RYR1	6261	genome.wustl.edu	37	chr19	38951142	38951142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatcaaggagtatcgaCgggaggggccccgggggcct	16	12	1	0	rs142548565		TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr19:38951142C>T	ENST00000359596.3	+	20	2488	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	RYR1_ENST00000360985.3_Missense_Mutation_p.R830W|RYR1_ENST00000355481.4_Missense_Mutation_p.R830W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					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)	p.R830W(1)		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)	GGAGTATCGACGGGAGGGGCC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000196218	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	68	73	71		2488,2488	1.9	0.9	19	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	RYR1	NM_000540.2,NM_001042723.1	101,101	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	830/5039,830/5034	38951142	4,13002	2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.2488C>T	19.37:g.38951142C>T	ENSP00000352608:p.Arg830Trp	Somatic	0	65	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	28	34.88	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R830W	ENST00000359596.3	37	c.2488	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866632	0.51588	0.0	4.65E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96940	-4.17;-4.18;-4.17	4.13	1.89	0.25635	.	0.091594	0.43416	U	0.000573	D	0.96583	0.8885	L	0.57536	1.79	0.26910	N	0.966923	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.96	D	0.91398	0.5141	10	0.51188	T	0.08	.	8.8285	0.35069	0.3047:0.556:0.1393:0.0	.	830;830	P21817-2;P21817	.;RYR1_HUMAN	W	830	ENSP00000352608:R830W;ENSP00000347667:R830W;ENSP00000354254:R830W	ENSP00000347667:R830W	R	+	1	2	RYR1	43642982	0.468000	0.25839	0.892000	0.35008	0.972000	0.66771	1.165000	0.31822	0.447000	0.26695	0.299000	0.19835	CGG	-	NULL		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		rs142548565		38951142	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	0.739	T	T	38951142	C	T	38951142	3	4	40	1	0	0	0	0	1	0	0	0	13776	527	19	1	2566	1	RYR1	19	38951142	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	17473809	38951142	20177841	30	2444											
SIGLEC14	100049587	genome.wustl.edu	37	chr19	52149191	52149191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggggctgagggcattccCcgtccaggagaatgtgagag	17	9	0	3			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr19:52149191C>A	ENST00000360844.6	-	3	585	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	182	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		AGGGCATTCCCCGTCCAGGAG	0.662																																																	0								ENSG00000254415																																			SIGLEC14	SO:0001583	missense	0			-	HGNC	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.544G>T	19.37:g.52149191C>A	ENSP00000354090:p.Gly182Trp	Somatic	0	37	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q6UXG0	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G182W	ENST00000360844.6	37	c.544	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658102	0.47467	.	.	ENSG00000254415	ENST00000360844	D	0.90444	-2.67	3.09	3.09	0.35607	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.146853	0.31531	N	0.007498	D	0.93523	0.7933	M	0.82823	2.61	0.09310	N	1	D	0.65815	0.995	P	0.58873	0.847	D	0.86661	0.1904	10	0.87932	D	0	.	9.8004	0.40761	0.0:1.0:0.0:0.0	.	182	Q08ET2	SIG14_HUMAN	W	182	ENSP00000354090:G182W	ENSP00000354090:G182W	G	-	1	0	SIGLEC14	56841003	0.029000	0.19370	0.015000	0.15790	0.027000	0.11550	1.719000	0.38011	1.750000	0.51863	0.508000	0.49915	GGG	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom		0.662	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	protein_coding	OTTHUMT00000466899.2	C	NM_001098612	-		52149191	-1	no_errors	ENST00000360844	ensembl	human	known	74_37	missense	SNP	0.030	A	A	52149191	C	A	52149191	3	1	40	1	0	0	0	0	1	0	0	0	14317	623	22	3	666	3	SIGLEC14	19	52149191	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	13198049	52149191	6979792	31	2445											
NKX2-2	4821	genome.wustl.edu	37	chr20	21492811	21492811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggcgtcacctccataCctttctcggcccgggcgcgc	13	17	2	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr20:21492811C>A	ENST00000377142.4	-	2	928	c.572G>T	c.(571-573)gGt>gTt	p.G191V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	191					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACCTCCATACCTTTCTCGGC	0.667																																																	0								ENSG00000125820						39	41	40					20																	21492811		2202	4300	6502	NKX2-2	SO:0001583	missense	0			-	HGNC	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.572G>T	20.37:g.21492811C>A	ENSP00000366347:p.Gly191Val	Somatic	0	120	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	54	40.00		Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G191V	ENST00000377142.4	37	c.572	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407232	0.62399	.	.	ENSG00000125820	ENST00000377142	D	0.91996	-2.95	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91140	0.7210	M	0.62723	1.935	0.80722	D	1	B	0.23490	0.086	B	0.24269	0.052	D	0.87890	0.2683	10	0.35671	T	0.21	.	19.0448	0.93015	0.0:1.0:0.0:0.0	.	191	O95096	NKX22_HUMAN	V	191	ENSP00000366347:G191V	ENSP00000366347:G191V	G	-	2	0	NKX2-2	21440811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.078000	0.57606	2.489000	0.83994	0.462000	0.41574	GGT	-	NULL		0.667	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	protein_coding	OTTHUMT00000078278.9	C		-		21492811	-1	no_errors	ENST00000377142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21492811	C	A	21492811	3	1	40	1	0	0	0	0	1	0	0	0	10452	507	18	3	253	3	NKX2-2	20	21492811	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09		21492811	41532709	32	2446											
MICAL3	57553	genome.wustl.edu	37	chr22	18301218	18301218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggacggggaccggggGgttggcagggacaacggctc	20	10	0	0			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr22:18301218G>A	ENST00000441493.2	-	26	4561	c.4209C>T	c.(4207-4209)acC>acT	p.T1403T	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1403	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGACCGGGGGGTTGGCAGGG	0.672																																																	0								ENSG00000243156						75	86	82					22																	18301218		1926	4120	6046	MICAL3	SO:0001819	synonymous_variant	0			-	HGNC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4209C>T	22.37:g.18301218G>A		Somatic	0	49	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.T1403	ENST00000441493.2	37	c.4209	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452584	0.01080	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.42	-5.7	0.02421	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46816	-0.9164	4	.	.	.	.	5.9118	0.19033	0.5076:0.0:0.2951:0.1973	.	.	.	.	L	385	.	.	P	-	2	0	XXbac-B461K10.4	16681218	0.774000	0.28592	0.003000	0.11579	0.003000	0.03518	-0.156000	0.10100	-1.089000	0.03073	-1.436000	0.01078	CCC	-	NULL		0.672	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	protein_coding	OTTHUMT00000447351.1	G		-		18301218	-1	no_errors	ENST00000441493	ensembl	human	known	74_37	silent	SNP	0.396	A	A	18301218	G	A	18301218	2	1	40	1	0	0	0	0	0	0	0	1	9573	1219	43	2		2	MICAL3	22	18301218	Silent	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09		18301218	33003348	33	2447			2	28		3	2	59	N	G	7.306701e-05
MICAL3	57553	genome.wustl.edu	37	chr22	18301275	18301275	+	Silent	SNP	G	G	A													aggcccagccttttggggatGgacagaggcttgagaaggtg							TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr22:18301275G>A	ENST00000441493.2	-	26	4504	c.4152C>T	c.(4150-4152)tcC>tcT	p.S1384S	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1384	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTTGGGGATGGACAGAGGCT	0.637																																																	0								ENSG00000243156						102	116	111					22																	18301275		1920	4114	6034	MICAL3	SO:0001819	synonymous_variant	0			-	HGNC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4152C>T	22.37:g.18301275G>A		Somatic	0	39	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	41.67	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1384	ENST00000441493.2	37	c.4152	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.737865	0.00681	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.43	-2.01	0.07410	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.20926	N	0.999825	.	.	.	.	.	.	T	0.22243	-1.0222	4	.	.	.	.	0.9721	0.01418	0.4395:0.2146:0.1387:0.2072	.	.	.	.	L	366	.	.	P	-	2	0	XXbac-B461K10.4	16681275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.154000	0.10130	-0.972000	0.03559	-1.562000	0.00884	CCA	-	NULL		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	protein_coding	OTTHUMT00000447351.1	G		-		18301275	-1	no_errors	ENST00000441493	ensembl	human	known	74_37	silent	SNP	0.001	A	A	18301275	G	A	18301275	2	1	40	1	0	0	0	0	0	0	0	1	9573	1335	47	2		2	MICAL3	22	18301275	Silent	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	57	18301275	33003291	34	2448	37	2	2	28		3	2	59	N	G	7.306701e-05
MICAL3	57553	genome.wustl.edu	37	chr22	18301276	18301276	+	Missense_Mutation	SNP	G	G	A													ggcccagccttttggggatgGacagaggcttgagaaggtgg							TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr22:18301276G>A	ENST00000441493.2	-	26	4503	c.4151C>T	c.(4150-4152)tCc>tTc	p.S1384F	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1384	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTGGGGATGGACAGAGGCTT	0.637																																																	0								ENSG00000243156						103	117	112					22																	18301276		1921	4115	6036	MICAL3	SO:0001583	missense	0			-	HGNC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4151C>T	22.37:g.18301276G>A	ENSP00000416015:p.Ser1384Phe	Somatic	0	39	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1384F	ENST00000441493.2	37	c.4151	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.564|5.564	0.288938|0.288938	0.10513|0.10513	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.65549	.|-0.16	4.43|4.43	3.4|3.4	0.38934|0.38934	.|.	.|.	.|.	.|.	.|.	T|T	0.41442|0.41442	0.1159|0.1159	L|L	0.29908|0.29908	0.895|0.895	0.41505|0.41505	D|D	0.988306|0.988306	.|P	.|0.36495	.|0.556	.|B	.|0.31016	.|0.123	T|T	0.18745|0.18745	-1.0327|-1.0327	5|9	.|0.10636	.|T	.|0.68	.|.	9.5088|9.5088	0.39065|0.39065	0.0:0.1561:0.682:0.1619|0.0:0.1561:0.682:0.1619	.|.	.|1384	.|Q7RTP6	.|MICA3_HUMAN	S|F	366|1384	.|ENSP00000416015:S1384F	.|ENSP00000416015:S1384F	P|S	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681276|16681276	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	7.125000|7.125000	0.77193|0.77193	0.841000|0.841000	0.35020|0.35020	-0.502000|-0.502000	0.04539|0.04539	CCA|TCC	-	NULL		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	protein_coding	OTTHUMT00000447351.1	G		-		18301276	-1	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	SNP	0.077	A	A	18301276	G	A	18301276	3	1	40	1	0	0	0	0	1	0	0	0	9573	1174	41	2	1885	2	MICAL3	22	18301276	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	1	18301276	33003290	35	2449	37	2	2	28		3	2	59	N	G	7.306701e-05
DGCR2	9993	genome.wustl.edu	37	chr22	19026588	19026588	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccttcactcccaccatcCccaggggctggcaggctgac	10	18	1	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr22:19026588C>A	ENST00000263196.7	-	10	1690	c.1443G>T	c.(1441-1443)ggG>ggT	p.G481G	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.G440G	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	481					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCCACCATCCCCAGGGGCTG	0.642																																																	0								ENSG00000070413						38	39	39					22																	19026588		2202	4298	6500	DGCR2	SO:0001819	synonymous_variant	0			-	HGNC	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1443G>T	22.37:g.19026588C>A		Somatic	0	109	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	64	35.64	A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP							pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.G481	ENST00000263196.7	37	c.1443	CCDS33598.1	22																																																																																			-	NULL		0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	protein_coding	OTTHUMT00000316504.1	C	NM_005137	-		19026588	-1	no_errors	ENST00000263196	ensembl	human	known	74_37	silent	SNP	0.306	A	A	19026588	C	A	19026588	2	1	40	1	0	0	0	0	0	0	0	1	4463	610	22	3		3	DGCR2	22	19026588	Silent	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	725312	19026588	32277978	36	2450											
GAL3ST1	9514	genome.wustl.edu	37	chr22	30950947	30950947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggtgggacgtcaccacCgcaggaaatcgcgaatgaac	15	11	1	1			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chr22:30950947C>T	ENST00000402321.1	-	3	1582	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R422Q|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R422Q|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R422Q|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R422Q|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R422Q|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R422Q			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	422				R -> E (in Ref. 1; AA sequence). {ECO:0000305}.	galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ACGTCACCACCGCAGGAAATC	0.682																																																	0								ENSG00000128242						45	41	42					22																	30950947		2203	4300	6503	GAL3ST1	SO:0001583	missense	0			-	HGNC	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1265G>A	22.37:g.30950947C>T	ENSP00000385735:p.Arg422Gln	Somatic	0	49	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	30	43.40	Q96C63	Missense_Mutation	SNP							pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.R422Q	ENST00000402321.1	37	c.1265	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	c	10.12	1.263311	0.23051	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.73	-1.77	0.07982	.	0.424732	0.26146	N	0.026068	T	0.07324	0.0185	N	0.13043	0.29	0.45452	D	0.998428	B	0.06786	0.001	B	0.01281	0.0	T	0.36237	-0.9756	10	0.20519	T	0.43	-10.2743	7.1798	0.25765	0.1094:0.4456:0.0:0.445	.	422	Q99999	G3ST1_HUMAN	Q	422	ENSP00000385825:R422Q;ENSP00000385735:R422Q;ENSP00000384122:R422Q;ENSP00000384388:R422Q;ENSP00000343234:R422Q;ENSP00000385207:R422Q;ENSP00000402587:R422Q	ENSP00000343234:R422Q	R	-	2	0	GAL3ST1	29280947	0.999000	0.42202	0.098000	0.21074	0.792000	0.44763	1.935000	0.40173	-0.553000	0.06158	-0.291000	0.09656	CGG	-	NULL		0.682	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	protein_coding	OTTHUMT00000321745.1	C	NM_004861	-		30950947	-1	no_errors	ENST00000338911	ensembl	human	known	74_37	missense	SNP	0.346	T	T	30950947	C	T	30950947	3	4	40	1	0	0	0	0	1	0	0	0	6199	652	23	1	10	1	GAL3ST1	22	30950947	Missense_Mutation	SNP	C	TCGA-DX-A3LT-01A-12D-A21Q-09	11924359	30950947	20353619	37	2451											
CXorf22	170063	genome.wustl.edu	37	chrX	35969300	35969300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatcaaagctcatgtgGttgagcagattattgaatta	10	4	2	4			TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chrX:35969300G>T	ENST00000297866.5	+	5	775	c.709G>T	c.(709-711)Gtt>Ttt	p.V237F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	237										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCTCATGTGGTTGAGCAGAT	0.348																																																	0								ENSG00000165164						116	102	107					X																	35969300		2202	4300	6502	CXorf22	SO:0001583	missense	0			-	HGNC	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.709G>T	X.37:g.35969300G>T	ENSP00000297866:p.Val237Phe	Somatic	0	18	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	5	70.59	Q5JRM8|Q8N6X8	Missense_Mutation	SNP							superfamily_PapD-like	p.V237F	ENST00000297866.5	37	c.709	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295943	0.81025	.	.	ENSG00000165164	ENST00000297866	T	0.21361	2.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.78049	2.395	0.38991	D	0.959153	D	0.89917	1.0	D	0.97110	1.0	T	0.53085	-0.8488	10	0.51188	T	0.08	-25.866	17.7567	0.88451	0.0:0.0:1.0:0.0	.	237	Q6ZTR5	CX022_HUMAN	F	237	ENSP00000297866:V237F	ENSP00000297866:V237F	V	+	1	0	CXorf22	35879221	1.000000	0.71417	0.888000	0.34837	0.960000	0.62799	6.957000	0.76019	2.412000	0.81896	0.506000	0.49869	GTT	-	NULL		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	protein_coding	OTTHUMT00000056216.2	G	NM_152632	-		35969300	1	no_errors	ENST00000297866	ensembl	human	known	74_37	missense	SNP	0.923	T	T	35969300	G	T	35969300	3	4	40	1	0	0	0	0	1	0	0	0	4104	1261	44	3	727	3	CXorf22	23	35969300	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09		35969300	119301260	38	2452											
FAM123B	139285	genome.wustl.edu	37	chrX	63410224	63410224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactggctggaaggcctGtccaactggttggggcttat	16	8	0	1	rs376353035		TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chrX:63410224G>A	ENST00000330258.3	-	2	3215	c.2943C>T	c.(2941-2943)gaC>gaT	p.D981D	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	981	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TGGAAGGCCTGTCCAACTGGT	0.567																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)						ENSG00000184675	G		0,3424		0,0,0,1427,570	30	32	31		2943	0.7	0.1	X		31	1,6502		0,0,1,2355,1792	no	coding-synonymous	FAM123B	NM_152424.3		0,0,1,3782,2362	AA,AG,A,GG,G		0.0154,0.0,0.0101		981/1136	63410224	1,9926	1997	4148	6145	AMER1	SO:0001819	synonymous_variant	0			-	HGNC	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2943C>T	X.37:g.63410224G>A		Somatic	0	42	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A2IB86|Q8N885	Silent	SNP							pfam_Uncharacterised_FAM123	p.D981	ENST00000330258.3	37	c.2943	CCDS14377.2	X																																																																																			-	NULL		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	protein_coding	OTTHUMT00000316584.1	G	NM_152424	-		63410224	-1	no_errors	ENST00000330258	ensembl	human	known	74_37	silent	SNP	0.147	A	A	63410224	G	A	63410224	2	1	40	1	0	0	0	0	0	0	0	1	5425	1368	48	2		2	FAM123B	23	63410224	Silent	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	27440924	63410224	91860336	39	2453											
DCX	1641	genome.wustl.edu	37	chrX	110644349	110644349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcacacgcacagccttccGaggcttcaccccactgcgga	9	17	1	0	rs104894780		TCGA-DX-A3LT-01A-12D-A21Q-09	TCGA-DX-A3LT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2f02ff7-8433-4cb5-9324-34f13edeaca1	c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2	g.chrX:110644349G>A	ENST00000338081.3	-	3	988	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	DCX_ENST00000356220.3_Missense_Mutation_p.R192W|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R192W|DCX_ENST00000356915.2_Missense_Mutation_p.R192W|DCX_ENST00000488120.1_Missense_Mutation_p.R192W	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	273	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> W (in LISX1 and SBHX). {ECO:0000269|PubMed:11175293, ECO:0000269|PubMed:9489699}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACAGCCTTCCGAGGCTTCACC	0.557																																																	0			GRCh37	CM980529	DCX	M	rs104894780	ENSG00000077279						118	100	106					X																	110644349		2203	4300	6503	DCX	SO:0001583	missense	0			-	HGNC	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.817C>T	X.37:g.110644349G>A	ENSP00000337697:p.Arg273Trp	Somatic	0	27	0		0.660204056085333				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	17	63.27	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.R273W	ENST00000338081.3	37	c.817	CCDS14556.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043537	0.75732	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27	4.74	2.85	0.33270	Doublecortin domain (4);	0.128241	0.52532	D	0.000064	D	0.96463	0.8846	M	0.86178	2.8	0.80722	A	1	D;P	0.89917	1.0;0.454	D;B	0.78314	0.991;0.161	D	0.97370	0.9975	9	0.72032	D	0.01	.	13.0367	0.58877	0.0:0.0:0.7066:0.2934	.	261;273	B4DM53;O43602	.;DCX_HUMAN	W	192;192;273;192;192	ENSP00000349385:R192W;ENSP00000361061:R192W;ENSP00000337697:R273W;ENSP00000348553:R192W;ENSP00000419861:R192W	ENSP00000337697:R273W	R	-	1	2	DCX	110531005	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.691000	0.68249	0.438000	0.26450	0.600000	0.82982	CGG	-	smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom		0.557	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	protein_coding	OTTHUMT00000357058.1	G	NM_178153	rs104894780		110644349	-1	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110644349	G	A	110644349	3	1	40	1	0	0	0	0	1	0	0	0	4320	1057	37	1	543	1	DCX	23	110644349	Missense_Mutation	SNP	G	TCGA-DX-A3LT-01A-12D-A21Q-09	47234125	110644349	44626211	40	2454											
CLCNKA	1187	genome.wustl.edu	37	chr1	16360144	16360144	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctgacaaatccgccagcTccaaagtgagccggcccagc	9	16	0	2	rs371202740		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr1:16360144T>C	ENST00000331433.4	+	20	2074	c.2055T>C	c.(2053-2055)gcT>gcC	p.A685A	CLCNKA_ENST00000420078.1_Silent_p.A684A|CLCNKA_ENST00000375692.1_Silent_p.A684A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.A642A			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	685					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|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)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATCCGCCAGCTCCAAAGTGAG	0.582																																																	0								ENSG00000186510						82	81	82					1																	16360144		2202	4300	6502	CLCNKA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.2055T>C	1.37:g.16360144T>C		Somatic	0	42	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	33	0	0	45	4.26	2	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.A685	ENST00000331433.4	37	c.2055	CCDS167.1	1																																																																																			-	NULL		0.582	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	protein_coding	OTTHUMT00000026326.1	T		-		16360144	1	no_errors	ENST00000331433	ensembl	human	known	74_37	silent	SNP	0.903	C	C	16360144	T	C	16360144	2	2	41	1	0	0	0	0	0	0	0	1	3471	1538	54	5		5	CLCNKA	1	16360144	Silent	SNP	T	TCGA-DX-A3LU-01A-11D-A21Q-09		16360144	232890477	1	2455											
L1TD1	54596	genome.wustl.edu	37	chr1	62672499	62672499	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattcaagacctgatgtttGaggagatgagggaaactctt	11	5	2	5			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr1:62672499G>A	ENST00000498273.1	+	3	494	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	67										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						cctgatgtttgaggagatgag	0.368																																																	0								ENSG00000240563						25	25	25					1																	62672499		2199	4297	6496	L1TD1	SO:0001583	missense	0			-	HGNC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.199G>A	1.37:g.62672499G>A	ENSP00000419901:p.Glu67Lys	Somatic	0	15	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	34	0	0	60	58.90	86	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E67K	ENST00000498273.1	37	c.199	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360379	0.61403	.	.	ENSG00000240563	ENST00000498273	T	0.10960	2.82	2.21	0.117	0.14652	.	.	.	.	.	T	0.07728	0.0194	N	0.24115	0.695	0.09310	N	1	P	0.41232	0.743	B	0.43783	0.431	T	0.37572	-0.9700	9	0.19590	T	0.45	.	6.4692	0.21999	0.0:0.0:0.4792:0.5208	.	67	Q5T7N2	LITD1_HUMAN	K	67	ENSP00000419901:E67K	ENSP00000419901:E67K	E	+	1	0	L1TD1	62445087	0.010000	0.17322	0.003000	0.11579	0.553000	0.35397	0.291000	0.18994	0.042000	0.15717	0.313000	0.20887	GAG	-	NULL		0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	protein_coding	OTTHUMT00000024688.1	G	NM_019079	-		62672499	1	no_errors	ENST00000498273	ensembl	human	known	74_37	missense	SNP	0.004	A	A	62672499	G	A	62672499	3	1	41	1	0	0	0	0	1	0	0	0	8591	1291	45	2	201	2	L1TD1	1	62672499	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	46312355	62672499	186578122	2	2456			1	29		4	4	3490	G		8.543633e-09
L1TD1	54596	genome.wustl.edu	37	chr1	62672642	62672642	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttagcattacaaaaaacaggGatggtagggaaaatagaagg	12	3	0	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr1:62672642G>A	ENST00000498273.1	+	3	637	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	114										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aaaaaacagggatggtaggga	0.333																																																	0								ENSG00000240563						68	80	76					1																	62672642		2182	4289	6471	L1TD1	SO:0001819	synonymous_variant	0			-	HGNC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.342G>A	1.37:g.62672642G>A		Somatic	0	18	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	19	56.82	Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	34	0	0	64	57.89	88	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.G114	ENST00000498273.1	37	c.342	CCDS619.1	1																																																																																			-	NULL		0.333	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	protein_coding	OTTHUMT00000024688.1	G	NM_019079	-		62672642	1	no_errors	ENST00000498273	ensembl	human	known	74_37	silent	SNP	0.000	A	A	62672642	G	A	62672642	2	1	41	1	0	0	0	0	0	0	0	1	8591	1161	41	2		2	L1TD1	1	62672642	Silent	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	143	62672642	186577979	3	2457			1	29		4	4	3490	G		8.543633e-09
L1TD1	54596	genome.wustl.edu	37	chr1	62672847	62672847	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaccttatgcaatatagatGacagagatggaaatcgcaat	8	6	0	3			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr1:62672847G>A	ENST00000498273.1	+	3	842	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	183										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						caatatagatgacagagatgg	0.368																																																	0								ENSG00000240563						19	19	19					1																	62672847		2135	4168	6303	L1TD1	SO:0001583	missense	0			-	HGNC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.547G>A	1.37:g.62672847G>A	ENSP00000419901:p.Asp183Asn	Somatic	0	24	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	26	54.39	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	46	0	0	64	59.49	94	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.D183N	ENST00000498273.1	37	c.547	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124436	0.20959	.	.	ENSG00000240563	ENST00000498273	T	0.14266	2.52	2.03	1.11	0.20524	.	.	.	.	.	T	0.05273	0.0140	N	0.12182	0.205	0.09310	N	1	B	0.22909	0.077	B	0.19148	0.024	T	0.42172	-0.9467	9	0.05959	T	0.93	.	4.5029	0.11872	0.195:0.0:0.805:0.0	.	183	Q5T7N2	LITD1_HUMAN	N	183	ENSP00000419901:D183N	ENSP00000419901:D183N	D	+	1	0	L1TD1	62445435	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.062000	0.11674	0.440000	0.26502	0.313000	0.20887	GAC	-	NULL		0.368	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	protein_coding	OTTHUMT00000024688.1	G	NM_019079	-		62672847	1	no_errors	ENST00000498273	ensembl	human	known	74_37	missense	SNP	0.002	A	A	62672847	G	A	62672847	3	1	41	1	0	0	0	0	1	0	0	0	8591	1290	45	2	549	2	L1TD1	1	62672847	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	205	62672847	186577774	4	2458			1	29		4	4	3490	G		8.543633e-09
L1TD1	54596	genome.wustl.edu	37	chr1	62675988	62675988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaattccctttagttatttGgttggggactctgggaagaa	12	5	1	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr1:62675988G>A	ENST00000498273.1	+	4	1837	c.1542G>A	c.(1540-1542)ttG>ttA	p.L514L	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	514										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TTAGTTATTTGGTTGGGGACT	0.453																																																	0								ENSG00000240563						38	42	41					1																	62675988		2203	4300	6503	L1TD1	SO:0001819	synonymous_variant	0			-	HGNC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1542G>A	1.37:g.62675988G>A		Somatic	0	19	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	32	0	0	68	51.06	72	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.L514	ENST00000498273.1	37	c.1542	CCDS619.1	1																																																																																			-	NULL		0.453	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	protein_coding	OTTHUMT00000024688.1	G	NM_019079	-		62675988	1	no_errors	ENST00000498273	ensembl	human	known	74_37	silent	SNP	0.000	A	A	62675988	G	A	62675988	2	1	41	1	0	0	0	0	0	0	0	1	8591	1339	47	2		2	L1TD1	1	62675988	Silent	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	3141	62675988	186574633	5	2459			1	29		4	4	3490	G		8.543633e-09
RYR2	6262	genome.wustl.edu	37	chr1	237551406	237551406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtatctcattggtggtgaTgtcctcaggttgctgcatgg	15	7	2	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr1:237551406T>C	ENST00000366574.2	+	10	1013	c.696T>C	c.(694-696)gaT>gaC	p.D232D	RYR2_ENST00000542537.1_Silent_p.D216D|RYR2_ENST00000360064.6_Silent_p.D230D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	232	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGTGGTGATGTCCTCAGGT	0.488																																																	0								ENSG00000198626						125	120	122					1																	237551406		2032	4198	6230	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.696T>C	1.37:g.237551406T>C		Somatic	0	48	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	Q15411|Q546N8|Q5T3P2	Silent	SNP	29	0	0	25	45.65	21	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D230	ENST00000366574.2	37	c.690	CCDS55691.1	1																																																																																			-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	T	NM_001035	-		237551406	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	0.990	C	C	237551406	T	C	237551406	2	2	41	1	0	0	0	0	0	0	0	1	13777	1461	51	5		5	RYR2	1	237551406	Silent	SNP	T	TCGA-DX-A3LU-01A-11D-A21Q-09	174875418	237551406	11699215	6	2460											
MEMO1	51072	genome.wustl.edu	37	chr2	32093492	32093492	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgccagtttctacactGgctcgactgggcataattca	9	11	3	0			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr2:32093492G>C	ENST00000295065.5	-	9	1141	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.Q281E|MEMO1_ENST00000426310.2_Missense_Mutation_p.Q255E|MEMO1_ENST00000404530.1_Missense_Mutation_p.Q278E|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	278					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TTTCTACACTGGCTCGACTGG	0.443																																																	0								ENSG00000162959						21	20	20					2																	32093492		2202	4294	6496	MEMO1	SO:0001583	missense	0			-	HGNC	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.832C>G	2.37:g.32093492G>C	ENSP00000295065:p.Gln278Glu	Somatic	0	19	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	28	0	0	23	37.84	14	pfam_MEMO1_fam	p.Q281E	ENST00000295065.5	37	c.841	CCDS1776.1	2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772854	0.31411	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.053891	0.85682	D	0.000000	T	0.65281	0.2676	L	0.53780	1.695	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.10450	0.005;0.004	T	0.61792	-0.6990	9	0.49607	T	0.09	-0.5607	18.7757	0.91911	0.0:0.0:1.0:0.0	.	255;278	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	E	278;281;278;255	.	ENSP00000295065:Q278E	Q	-	1	0	MEMO1	31946996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.338000	0.72963	2.608000	0.88229	0.650000	0.86243	CAG	-	pfam_MEMO1_fam		0.443	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	protein_coding	OTTHUMT00000250251.2	G	NM_015955	-		32093492	-1	no_errors	ENST00000379383	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32093492	G	C	32093492	3	2	41	1	0	0	0	0	1	0	0	0	9473	1357	47	4	65	4	MEMO1	2	32093492	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		32093492	211105881	7	2461											
ABCF3	55324	genome.wustl.edu	37	chr3	183906580	183906580	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgaagctgcagagctggcaGaaatctatgccaaactggag	12	9	1	3			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr3:183906580G>C	ENST00000429586.2	+	8	1053	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q	ABCF3_ENST00000292808.5_Missense_Mutation_p.E284Q|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	290	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGCTGGCAGAAATCTATGC	0.552																																																	0								ENSG00000161204						68	76	73					3																	183906580		2203	4300	6503	ABCF3	SO:0001583	missense	0			-	HGNC	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.868G>C	3.37:g.183906580G>C	ENSP00000411471:p.Glu290Gln	Somatic	0	24	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	22	0	0	57	0.00	0	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E290Q	ENST00000429586.2	37	c.868	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417766	0.42918	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92805	-3.11;-3.11	5.24	4.36	0.52297	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	L	0.37507	1.11	0.80722	D	1	B;P	0.38250	0.235;0.624	B;B	0.42692	0.142;0.395	D	0.87098	0.2177	10	0.33141	T	0.24	-13.9657	14.2818	0.66219	0.0:0.0:0.85:0.15	.	284;290	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	Q	290;284	ENSP00000411471:E290Q;ENSP00000292808:E284Q	ENSP00000292808:E284Q	E	+	1	0	ABCF3	185389274	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	8.924000	0.92827	1.180000	0.42898	0.655000	0.94253	GAA	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	protein_coding	OTTHUMT00000346047.1	G	NM_018358	-		183906580	1	no_errors	ENST00000429586	ensembl	human	known	74_37	missense	SNP	0.999	C	C	183906580	G	C	183906580	3	2	41	1	0	0	0	0	1	0	0	0	67	943	33	4	898	4	ABCF3	3	183906580	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		183906580	14115850	8	2462											
THBS4	7060	genome.wustl.edu	37	chr5	79355569	79355569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaagcacggtggtgccCccggctccccctgcaccgcc	10	22	0	0	rs200566165		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr5:79355569C>T	ENST00000350881.2	+	7	1018	c.828C>T	c.(826-828)ccC>ccT	p.P276P	THBS4_ENST00000511733.1_Silent_p.P185P|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	276				P -> A (in Ref. 1; no nucleotide entry and 2; CAA79635). {ECO:0000305}.	behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGGTGGTGCCCCCGGCTCCCC	0.567													C|||	1	0.000199681	0	0	5008	,	,		19192	0.001		0	False		,,,				2504	0																0								ENSG00000113296						123	123	123					5																	79355569		2203	4300	6503	THBS4	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.828C>T	5.37:g.79355569C>T		Somatic	0	28	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	B2R909|Q86TG2	Silent	SNP	22	0	0	35	30.00	15	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P276	ENST00000350881.2	37	c.828	CCDS4049.1	5																																																																																			-	NULL		0.567	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	protein_coding	OTTHUMT00000226977.1	C		rs200566165		79355569	1	no_errors	ENST00000350881	ensembl	human	known	74_37	silent	SNP	0.009	T	T	79355569	C	T	79355569	2	4	41	1	0	0	0	0	0	0	0	1	15863	610	22	2		2	THBS4	5	79355569	Silent	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09		79355569	101559691	9	2463											
KIF4B	285643	genome.wustl.edu	37	chr5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaggatgctg	13	7	1	2	rs199820075		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													G|||	1	0.000199681	0	0	5008	,	,		22303	0.001		0	False		,,,				2504	0																2	Substitution - Missense(2)	lung(2)						ENSG00000226650						157	156	156					5																	154395374		2203	4300	6503	KIF4B	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1955G>A	5.37:g.154395374G>A	ENSP00000387875:p.Arg652His	Somatic	0	39	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39		Missense_Mutation	SNP	34	0	0	51	31.08	23	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R652H	ENST00000435029.4	37	c.1955	CCDS47324.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.12	1.842099	0.32513	.	.	ENSG00000226650	ENST00000435029	T	0.18174	2.23	2.54	0.587	0.17439	.	.	.	.	.	T	0.12178	0.0296	L	0.47716	1.5	0.48236	D	0.999614	B	0.31256	0.316	B	0.24269	0.052	T	0.09164	-1.0687	9	0.59425	D	0.04	.	5.0708	0.14606	0.3293:0.0:0.6707:0.0	.	652	Q2VIQ3	KIF4B_HUMAN	H	652	ENSP00000387875:R652H	ENSP00000387875:R652H	R	+	2	0	KIF4B	154375567	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	4.427000	0.59888	-0.177000	0.10690	0.563000	0.77884	CGT	-	NULL		0.408	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	G		rs199820075		154395374	1	no_errors	ENST00000435029	ensembl	human	known	74_37	missense	SNP	1.000	A	A	154395374	G	A	154395374	3	1	41	1	0	0	0	0	1	0	0	0	8306	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	75039805	154395374	26519886	10	2464											
CDKN1A	1026	genome.wustl.edu	37	chr6	36651975	36651975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagcgagcagctgagccgcGactgtgatgcgctaatggcg	15	11	0	2	rs376481017		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr6:36651975G>A	ENST00000405375.1	+	2	332	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	33					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTGAGCCGCGACTGTGATGC	0.647																																																	0								ENSG00000124762						41	38	39					6																	36651975		2203	4300	6503	CDKN1A	SO:0001583	missense	0			-	HGNC	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.97G>A	6.37:g.36651975G>A	ENSP00000384849:p.Asp33Asn	Somatic	0	70	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	54	25.00	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	27	0	0	33	25.00	11	pfam_CDI	p.D67N	ENST00000405375.1	37	c.199	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757731	0.69648	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.06	5.06	0.68205	.	0.000000	0.56097	D	0.000030	D	0.89584	0.6757	M	0.80616	2.505	0.45554	D	0.998507	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.978	D	0.87010	0.2122	10	0.23302	T	0.38	-38.2672	13.8081	0.63246	0.0:0.0:1.0:0.0	.	67;33;33	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	N	67;33;33;33	ENSP00000409259:D67N;ENSP00000244741:D33N;ENSP00000384849:D33N;ENSP00000362815:D33N	ENSP00000244741:D33N	D	+	1	0	CDKN1A	36759953	1.000000	0.71417	0.907000	0.35723	0.062000	0.15995	6.535000	0.73838	2.642000	0.89623	0.561000	0.74099	GAC	-	pfam_CDI		0.647	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	protein_coding	OTTHUMT00000040354.1	G	NM_078467	-		36651975	1	no_errors	ENST00000448526	ensembl	human	known	74_37	missense	SNP	0.959	A	A	36651975	G	A	36651975	3	1	41	1	0	0	0	0	1	0	0	0	3160	1058	37	1	99	1	CDKN1A	6	36651975	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		36651975	134463092	11	2465											
FAM135A	57579	genome.wustl.edu	37	chr6	71234525	71234525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagctgtttgccaactaatAcagagagaactgaacaaaag	8	8	0	3			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr6:71234525A>G	ENST00000418814.2	+	15	2352	c.1738A>G	c.(1738-1740)Aca>Gca	p.T580A	FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.T580A	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	580										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GCCAACTAATACAGAGAGAAC	0.393																																																	0								ENSG00000082269						55	54	54					6																	71234525		692	1591	2283	FAM135A	SO:0001583	missense	0			-	HGNC	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1738A>G	6.37:g.71234525A>G	ENSP00000410768:p.Thr580Ala	Somatic	0	16	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	35	0	0	56	21.92	16	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.T580A	ENST00000418814.2	37	c.1738	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894099	0.33442	.	.	ENSG00000082269	ENST00000418814;ENST00000505868	T;T	0.19394	2.18;2.15	5.39	4.2	0.49525	.	0.294923	0.37857	N	0.001917	T	0.06462	0.0166	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.13415	-1.0510	10	0.26408	T	0.33	.	4.9387	0.13954	0.7504:0.0:0.086:0.1637	.	580	Q9P2D6	F135A_HUMAN	A	580	ENSP00000410768:T580A;ENSP00000423307:T580A	ENSP00000410768:T580A	T	+	1	0	FAM135A	71291246	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.551000	0.45820	0.954000	0.37851	0.459000	0.35465	ACA	-	NULL		0.393	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	protein_coding	OTTHUMT00000041137.2	A	NM_020819	-		71234525	1	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71234525	A	G	71234525	3	3	41	1	0	0	0	0	1	0	0	0	5450	391	14	5	1866	5	FAM135A	6	71234525	Missense_Mutation	SNP	A	TCGA-DX-A3LU-01A-11D-A21Q-09	34582550	71234525	99880542	12	2466											
PREX2	80243	genome.wustl.edu	37	chr8	69104676	69104676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcttgcagtgcttctgGggttggactgctgtcagttt	13	9	2	0			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr8:69104676G>T	ENST00000288368.4	+	37	4797	c.4520G>T	c.(4519-4521)gGg>gTg	p.G1507V		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1507					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTGCTTCTGGGGTTGGACTG	0.567																																																	0								ENSG00000046889						75	61	66					8																	69104676		2203	4300	6503	PREX2	SO:0001583	missense	0			-	HGNC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4520G>T	8.37:g.69104676G>T	ENSP00000288368:p.Gly1507Val	Somatic	0	43	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	25	0	0	26	25.71	9	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1507V	ENST00000288368.4	37	c.4520	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617642	0.87359	.	.	ENSG00000046889	ENST00000288368	T	0.60920	0.15	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.79082	-0.1949	10	0.87932	D	0	.	18.4181	0.90577	0.0:0.0:1.0:0.0	.	1507	Q70Z35	PREX2_HUMAN	V	1507	ENSP00000288368:G1507V	ENSP00000288368:G1507V	G	+	2	0	PREX2	69267230	1.000000	0.71417	0.673000	0.29887	0.885000	0.51271	9.277000	0.95755	2.427000	0.82271	0.467000	0.42956	GGG	-	NULL		0.567	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	protein_coding	OTTHUMT00000378620.1	G	NM_025170	-		69104676	1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	SNP	0.999	T	T	69104676	G	T	69104676	3	4	41	1	0	0	0	0	1	0	0	0	12482	1232	43	3	4895	3	PREX2	8	69104676	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		69104676	77259346	13	2467											
PRUNE2	158471	genome.wustl.edu	37	chr9	79326018	79326018	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggttgtggctctatgtcaGaaccatacaattccataatc	8	9	2	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr9:79326018G>A	ENST00000376718.3	-	8	1295	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S32F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	391					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTATGTCAGAACCATACAA	0.512																																																	0								ENSG00000106772						43	39	40					9																	79326018		1568	3582	5150	PRUNE2	SO:0001583	missense	0			-	HGNC	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.1172C>T	9.37:g.79326018G>A	ENSP00000365908:p.Ser391Phe	Somatic	0	44	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	29	0	0	60	36.84	35	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S32F	ENST00000376718.3	37	c.95	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875982	0.51695	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.68331	-0.32;-0.29	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000052	T	0.77267	0.4105	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78201	-0.2296	10	0.87932	D	0	-14.0842	20.1379	0.98040	0.0:0.0:1.0:0.0	.	391	Q8WUY3	PRUN2_HUMAN	F	391;32;390	ENSP00000365908:S391F;ENSP00000397425:S32F	ENSP00000365908:S391F	S	-	2	0	PRUNE2	78515838	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	8.855000	0.92236	2.779000	0.95612	0.655000	0.94253	TCT	-	NULL		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	G	NM_138818	-		79326018	-1	no_errors	ENST00000428286	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79326018	G	A	79326018	3	1	41	1	0	0	0	0	1	0	0	0	12646	942	33	2	8142	2	PRUNE2	9	79326018	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		79326018	61887413	14	2468											
WNK2	65268	genome.wustl.edu	37	chr9	96009927	96009927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggagaggatctggcccGcgctgcagcccaaggagcag	18	12	1	1	rs368902215		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr9:96009927G>A	ENST00000297954.4	+	7	1645	c.1645G>A	c.(1645-1647)Gcg>Acg	p.A549T	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A161T|WNK2_ENST00000395477.2_Missense_Mutation_p.A549T|WNK2_ENST00000395475.2_Missense_Mutation_p.A535T|WNK2_ENST00000427277.2_Missense_Mutation_p.A161T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	549					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GATCTGGCCCGCGCTGCAGCC	0.657																																																	0								ENSG00000165238	G	THR/ALA	0,4398		0,0,2199	23	18	19		1645	3.3	0	9		19	1,8597		0,1,4298	no	missense	WNK2	NM_006648.3	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	549/2218	96009927	1,12995	2199	4299	6498	WNK2	SO:0001583	missense	0			-	HGNC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1645G>A	9.37:g.96009927G>A	ENSP00000297954:p.Ala549Thr	Somatic	0	54	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	66	15.19	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	17	0	0	58	14.71	10	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A549T	ENST00000297954.4	37	c.1645		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.085619|2.085619	0.36758|0.36758	0.0|0.0	1.16E-4|1.16E-4	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T;T;T|.	0.71579|.	-0.58;-0.44;-0.43;-0.57;0.13;0.14|.	5.39|5.39	3.27|3.27	0.37495|0.37495	.|.	0.878523|.	0.10170|.	N|.	0.707293|.	T|T	0.49558|0.49558	0.1564|0.1564	M|M	0.69823|0.69823	2.125|2.125	0.20975|0.20975	N|N	0.999819|0.999819	D;P;D;D;D|.	0.61080|.	0.989;0.876;0.981;0.989;0.981|.	B;B;B;B;B|.	0.42245|.	0.381;0.308;0.32;0.381;0.32|.	T|T	0.37033|0.37033	-0.9723|-0.9723	10|5	0.27082|.	T|.	0.32|.	.|.	8.3379|8.3379	0.32225|0.32225	0.1219:0.1645:0.7136:0.0|0.1219:0.1645:0.7136:0.0	.|.	549;549;152;549;549|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	T|H	549;549;549;535;161;161|152	ENSP00000412465:A549T;ENSP00000297954:A549T;ENSP00000378860:A549T;ENSP00000378858:A535T;ENSP00000297876:A161T;ENSP00000411181:A161T|.	ENSP00000297954:A549T|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95049748|95049748	0.011000|0.011000	0.17503|0.17503	0.046000|0.046000	0.18839|0.18839	0.735000|0.735000	0.41995|0.41995	1.757000|1.757000	0.38400|0.38400	2.545000|2.545000	0.85829|0.85829	0.549000|0.549000	0.68633|0.68633	GCG|CGC	-	NULL		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	G	NM_006648	-		96009927	1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	SNP	0.002	A	A	96009927	G	A	96009927	3	1	41	1	0	0	0	0	1	0	0	0	17385	1087	38	1	1671	1	WNK2	9	96009927	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	16683909	96009927	45203504	15	2469											
OR1J2	26740	genome.wustl.edu	37	chr9	125273445	125273445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacatcaatggcatatgaccGatatgttgccatatgtcacc	7	10	2	1	rs372492437		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr9:125273445G>A	ENST00000335302.5	+	1	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122L(1)		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						GCATATGACCGATATGTTGCC	0.408													G|||	1	0.000199681	0	0.0014	5008	,	,		24907	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	pancreas(1)						ENSG00000197233	G	GLN/ARG	0,4406		0,0,2203	186	151	163		365	3.1	0	9		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1J2	NM_054107.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	122/314	125273445	1,13005	2203	4300	6503	OR1J2	SO:0001583	missense	0			-	HGNC		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.365G>A	9.37:g.125273445G>A	ENSP00000335575:p.Arg122Gln	Somatic	0	63	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	80	44.06	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	34	0	0	48	56.36	62	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122Q	ENST00000335302.5	37	c.365	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740198	0.49045	0.0	1.16E-4	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.76968	-1.06	5.02	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36002	U	0.002860	D	0.89434	0.6714	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81106	-0.1083	10	0.72032	D	0.01	.	10.2558	0.43397	0.1725:0.0:0.8275:0.0	.	122	Q8NGS2	OR1J2_HUMAN	Q	122	ENSP00000335575:R122Q	ENSP00000335575:R122Q	R	+	2	0	OR1J2	124313266	0.632000	0.27172	0.002000	0.10522	0.021000	0.10359	3.814000	0.55643	1.339000	0.45563	0.650000	0.86243	CGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	protein_coding	OTTHUMT00000053932.1	G		-		125273445	1	no_errors	ENST00000335302	ensembl	human	known	74_37	missense	SNP	0.037	A	A	125273445	G	A	125273445	3	1	41	1	0	0	0	0	1	0	0	0	10962	1058	37	1	367	1	OR1J2	9	125273445	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	29263518	125273445	15939986	16	2470											
RELA	5970	genome.wustl.edu	37	chr11	65429468	65429468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctgggatgctgcccgcGgagcgcccctcgcacttgta	13	16	0	0			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr11:65429468G>A	ENST00000406246.3	-	3	387	c.126C>T	c.(124-126)tcC>tcT	p.S42S	RELA_ENST00000308639.9_Silent_p.S42S|RELA_ENST00000525693.1_Silent_p.S42S	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	42	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|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)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|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 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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGCTGCCCGCGGAGCGCCCCT	0.662																																																	0								ENSG00000173039						73	65	68					11																	65429468		2201	4297	6498	RELA	SO:0001819	synonymous_variant	0			-	HGNC	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.126C>T	11.37:g.65429468G>A		Somatic	0	50	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	Q6GTV1|Q6SLK1	Silent	SNP	32	0	0	21	41.67	15	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.S42	ENST00000406246.3	37	c.126	CCDS31609.1	11																																																																																			-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_Dor		0.662	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	protein_coding	OTTHUMT00000390457.2	G	NM_021975	-		65429468	-1	no_errors	ENST00000406246	ensembl	human	known	74_37	silent	SNP	0.016	A	A	65429468	G	A	65429468	2	1	41	1	0	0	0	0	0	0	0	1	13224	1103	39	1		1	RELA	11	65429468	Silent	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		65429468	69577048	17	2471											
A2ML1	144568	genome.wustl.edu	37	chr12	8990042	8990080	+	In_Frame_Del	DEL	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	-													cttttcttggttaggtacacCtatggaaagcccatgctagg					rs377672586		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:8990042_8990080delCTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	ENST00000299698.7	+	8	915_953	c.735_773delCTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	c.(733-774)acctatggaaagcccatgctaggggcagtgcaggtatctgtg>acg	p.YGKPMLGAVQVSV246del		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.G252V(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTAGGTACACCTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGTGTGTCAGAAG	0.481																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000166535																																			A2ML1	SO:0001651	inframe_deletion	0				HGNC	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.735_773delCTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	12.37:g.8990042_8990080delCTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	ENSP00000299698:p.Tyr246_Val258del	Somatic					0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1					In_Frame_Del	DEL	29	0	0	31	3.12	1	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.YGKPMLGAVQVSV246in_frame_del	ENST00000299698.7	37	c.735_773	CCDS8596.2	12																																																																																			-	NULL		0.481	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	protein_coding	OTTHUMT00000250304.3	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	NM_144670			8990080	1	no_errors	ENST00000299698	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:0.997:1.000:1.000:0.996:1.000:0.999:0.989:0.984:0.951:0.052:0.001:0.007:0.005:0.002:0.000:0.000:0.079:0.077:0.033:0.004:0.002:0.001:0.031:0.026:0.019:0.017:0.008:0.006:0.038:0.032:0.003:0.009:0.009:0.000:0.154:0.178	-	-	8990080	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	-	8990042	7	5	41	1	0	1	0	1	0	0	0	0	5	668	24	0	765	0	A2ML1	12	8990042	In_Frame_Del	DEL	CTATGGAAAGCCCATGCTAGGGGCAGTGCAGGTATCTGT	TCGA-DX-A3LU-01A-11D-A21Q-09		8990042	124861853	18	2472											
KRAS	3845	genome.wustl.edu	37	chr12	25398282	25398282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggcactcttgcctacgcCaccagctccaactaccacaa	5	18	1	0	rs121913535		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:25398282C>A	ENST00000256078.4	-	2	100	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000311936.3_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C	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.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(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)			TTGCCTACGCCACCAGCTCCA	0.343	G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY)	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)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	321	Substitution - Missense(317)|Insertion - In frame(4)	large_intestine(126)|lung(111)|stomach(14)|thyroid(13)|biliary_tract(13)|endometrium(9)|ovary(8)|haematopoietic_and_lymphoid_tissue(5)|pancreas(5)|soft_tissue(4)|upper_aerodigestive_tract(4)|prostate(3)|oesophagus(2)|urinary_tract(1)|salivary_gland(1)|thymus(1)|liver(1)						ENSG00000133703						89	79	83					12																	25398282		2203	4300	6503	KRAS	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	-	HGNC	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.37G>T	12.37:g.25398282C>A	ENSP00000256078:p.Gly13Cys	Somatic	0	22	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	39	0	0	54	3.57	2	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13C	ENST00000256078.4	37	c.37	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686065	0.88639	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.83755	-1.76;-0.81;-0.81;-0.81	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	D	0.93619	0.6946	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	C	13	ENSP00000308495:G13C;ENSP00000452512:G13C;ENSP00000256078:G13C;ENSP00000451856:G13C	ENSP00000256078:G13C	G	-	1	0	KRAS	25289549	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	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.343	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360	rs121913535		25398282	-1	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25398282	C	A	25398282	3	1	41	1	0	0	0	0	1	0	0	0	8440	594	21	3	669	3	KRAS	12	25398282	Missense_Mutation	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09	16408240	25398282	108453613	19	2473											
PDE1B	5153	genome.wustl.edu	37	chr12	54960762	54960762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctgctccctgcaggctgCgctacatggtgaagcagttg	12	11	1	1	rs147900601		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:54960762C>T	ENST00000243052.3	+	3	554	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PDE1B_ENST00000538346.1_5'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R20C	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	40	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTGCAGGCTGCGCTACATGGT	0.463																																																	0								ENSG00000123360	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	80	78	79		118,58	4.1	1	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDE1B	NM_000924.3,NM_001165975.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	40/537,20/517	54960762	1,13005	2203	4300	6503	PDE1B	SO:0001583	missense	0			-	HGNC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.118C>T	12.37:g.54960762C>T	ENSP00000243052:p.Arg40Cys	Somatic	0	24	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	234	20.88	Q92825|Q96KP3	Missense_Mutation	SNP	41	0	0	493	18.05	109	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R40C	ENST00000243052.3	37	c.118	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806265	0.70682	0.0	1.16E-4	ENSG00000123360	ENST00000243052;ENST00000550620	T;T	0.75477	-0.83;-0.94	4.08	4.08	0.47627	.	1.089120	0.07087	N	0.838080	T	0.81781	0.4895	L	0.48362	1.52	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.88	T	0.75958	-0.3134	10	0.87932	D	0	.	9.4762	0.38873	0.2109:0.7891:0.0:0.0	.	20;40	Q01064-2;Q01064	.;PDE1B_HUMAN	C	40;20	ENSP00000243052:R40C;ENSP00000448519:R20C	ENSP00000243052:R40C	R	+	1	0	PDE1B	53247029	0.967000	0.33354	1.000000	0.80357	0.979000	0.70002	0.744000	0.26245	2.560000	0.86352	0.561000	0.74099	CGC	-	NULL		0.463	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	protein_coding	OTTHUMT00000406203.1	C		rs147900601		54960762	1	no_errors	ENST00000243052	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54960762	C	T	54960762	3	4	41	1	0	0	0	0	1	0	0	0	11636	768	27	1	181	1	PDE1B	12	54960762	Missense_Mutation	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09	29562480	54960762	78891133	20	2474											
ARHGAP9	64333	genome.wustl.edu	37	chr12	57869320	57869320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggacaccagctccgactCctcttcttcgtcctccccgg	7	19	2	0			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:57869320C>T	ENST00000356411.2	-	11	1585	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.E280K|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.E464K|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.E554K|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.E543K|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.E464K			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	483	Lipid binding.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTCCGACTCCTCTTCTTCG	0.721																																																	0								ENSG00000123329						10	12	11					12																	57869320		2188	4284	6472	ARHGAP9	SO:0001583	missense	0			-	HGNC	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1447G>A	12.37:g.57869320C>T	ENSP00000348782:p.Glu483Lys	Somatic	0	27	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	73	19	79.35	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	26	0	0	28	76.47	91	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.E483K	ENST00000356411.2	37	c.1447		12	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867032	0.32977	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139	T;T;T;T;T;T	0.50001	3.16;3.19;1.81;3.16;3.07;0.76	5.05	5.05	0.67936	.	0.237962	0.36555	N	0.002527	T	0.60881	0.2303	L	0.51422	1.61	0.34386	D	0.693675	D;D;D;D;B	0.69078	0.993;0.997;0.996;0.985;0.342	D;D;D;P;B	0.76071	0.971;0.98;0.987;0.643;0.204	T	0.66085	-0.6011	10	0.30078	T	0.28	.	14.2903	0.66273	0.0:1.0:0.0:0.0	.	543;483;464;464;280	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	K	464;483;134;464;554;513;280;280	ENSP00000377380:E464K;ENSP00000348782:E483K;ENSP00000394307:E464K;ENSP00000377386:E554K;ENSP00000397950:E280K;ENSP00000449829:E280K	ENSP00000344852:E513K	E	-	1	0	ARHGAP9	56155587	0.991000	0.36638	0.852000	0.33557	0.324000	0.28378	2.917000	0.48821	2.535000	0.85469	0.455000	0.32223	GAG	-	NULL		0.721	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	protein_coding		C	NM_032496	-		57869320	-1	no_errors	ENST00000356411	ensembl	human	known	74_37	missense	SNP	0.923	T	T	57869320	C	T	57869320	3	4	41	1	0	0	0	0	1	0	0	0	889	864	30	2	837	2	ARHGAP9	12	57869320	Missense_Mutation	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09	2908558	57869320	75982575	21	2475											
KIF5A	3798	genome.wustl.edu	37	chr12	57960944	57960944	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgtgtccagcccggaggaGattctggatgtgattgatga	14	6	1	4			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:57960944G>C	ENST00000455537.2	+	7	811	c.537G>C	c.(535-537)gaG>gaC	p.E179D	KIF5A_ENST00000286452.5_Missense_Mutation_p.E90D	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	179	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCCCGGAGGAGATTCTGGATG	0.443																																																	0								ENSG00000155980						162	154	156					12																	57960944		2203	4300	6503	KIF5A	SO:0001583	missense	0			-	HGNC	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.537G>C	12.37:g.57960944G>C	ENSP00000408979:p.Glu179Asp	Somatic	0	47	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A6H8M5|Q4LE26	Missense_Mutation	SNP	29	0	0	41	24.07	13	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E179D	ENST00000455537.2	37	c.537	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745826	0.49151	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.73681	-0.77;-0.77	4.48	4.48	0.54585	Kinesin, motor domain (4);	0.133320	0.53938	D	0.000051	T	0.62208	0.2409	N	0.25060	0.705	0.80722	D	1	B;B	0.26845	0.037;0.161	B;B	0.35510	0.063;0.204	T	0.57499	-0.7801	10	0.24483	T	0.36	.	10.6996	0.45920	0.0935:0.0:0.9065:0.0	.	90;179	B7Z2M7;Q12840	.;KIF5A_HUMAN	D	179;90	ENSP00000408979:E179D;ENSP00000286452:E90D	ENSP00000286452:E90D	E	+	3	2	KIF5A	56247211	0.988000	0.35896	1.000000	0.80357	0.903000	0.53119	0.261000	0.18442	2.481000	0.83766	0.453000	0.30009	GAG	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.443	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	protein_coding	OTTHUMT00000407634.1	G	NM_004984	-		57960944	1	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57960944	G	C	57960944	3	2	41	1	0	0	0	0	1	0	0	0	8307	933	33	4	563	4	KIF5A	12	57960944	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	91624	57960944	75890951	22	2476			2	30		2	2	17	G		1.70559e-05
KIF5A	3798	genome.wustl.edu	37	chr12	57960960	57960960	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggagattctggatgtgattGatgaagggaaatcaaatcgt	13	3	2	4			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:57960960G>C	ENST00000455537.2	+	7	827	c.553G>C	c.(553-555)Gat>Cat	p.D185H	KIF5A_ENST00000286452.5_Missense_Mutation_p.D96H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	185	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGATGTGATTGATGAAGGGAA	0.483																																																	0								ENSG00000155980						165	155	158					12																	57960960		2203	4300	6503	KIF5A	SO:0001583	missense	0			-	HGNC	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.553G>C	12.37:g.57960960G>C	ENSP00000408979:p.Asp185His	Somatic	0	43	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	A6H8M5|Q4LE26	Missense_Mutation	SNP	27	0	0	39	26.42	14	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D185H	ENST00000455537.2	37	c.553	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752695	0.89753	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.75154	-0.91;-0.91	4.48	4.48	0.54585	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	N	0.16037	0.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.80576	-0.1321	10	0.62326	D	0.03	.	16.4543	0.84008	0.0:0.0:1.0:0.0	.	96;185	B7Z2M7;Q12840	.;KIF5A_HUMAN	H	185;96	ENSP00000408979:D185H;ENSP00000286452:D96H	ENSP00000286452:D96H	D	+	1	0	KIF5A	56247227	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.048000	0.93830	2.481000	0.83766	0.453000	0.30009	GAT	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.483	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	protein_coding	OTTHUMT00000407634.1	G	NM_004984	-		57960960	1	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57960960	G	C	57960960	3	2	41	1	0	0	0	0	1	0	0	0	8307	1290	45	4	579	4	KIF5A	12	57960960	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	16	57960960	75890935	23	2477			2	30		2	2	17	G		1.70559e-05
C12orf56	115749	genome.wustl.edu	37	chr12	64706467	64706467	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcacttcttacctatatggCttttgacttccaatagcagg	6	10	2	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:64706467C>G	ENST00000543942.2	-	5	1586	c.960G>C	c.(958-960)aaG>aaC	p.K320N	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Intron	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	320										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCTATATGGCTTTTGACTTC	0.358																																																	0								ENSG00000185306						183	173	176					12																	64706467		692	1591	2283	C12orf56	SO:0001583	missense	0			-	HGNC		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.960G>C	12.37:g.64706467C>G	ENSP00000446101:p.Lys320Asn	Somatic	0	23	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21		Missense_Mutation	SNP	33	0	0	56	47.17	50	NULL	p.K320N	ENST00000543942.2	37	c.960		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.896|2.896	-0.228551|-0.228551	0.06022|0.06022	.|.	.|.	ENSG00000185306|ENSG00000185306	ENST00000433716|ENST00000543942;ENST00000543259	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	T|T	0.54532|0.54532	0.1864|0.1864	L|L	0.57536|0.57536	1.79|1.79	0.26058|0.26058	N|N	0.981395|0.981395	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48258|0.48258	-0.9051|-0.9051	5|5	.|.	.|.	.|.	.|.	13.4645|13.4645	0.61245|0.61245	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|T	323|319;172	.|.	.|.	K|S	-|-	3|2	2|0	C12orf56|C12orf56	62992734|62992734	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.100000|0.100000	0.18952|0.18952	1.847000|1.847000	0.39299|0.39299	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	AAG|AGC	-	NULL		0.358	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	protein_coding	OTTHUMT00000401058.2	C	NM_001099676	-		64706467	-1	no_errors	ENST00000543942	ensembl	human	putative	74_37	missense	SNP	1.000	G	G	64706467	C	G	64706467	3	3	41	1	0	0	0	0	1	0	0	0	1702	796	28	4	944	4	C12orf56	12	64706467	Missense_Mutation	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09	6745507	64706467	69145428	24	2478			3	31	6745507	2	2	48	C		5.010089e-05
C12orf56	115749	genome.wustl.edu	37	chr12	64706514	64706514	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcactagcatagaagggatCttgtaaaagagtagctttct	9	7	3	2			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr12:64706514C>G	ENST00000543942.2	-	5	1539	c.913G>C	c.(913-915)Gat>Cat	p.D305H	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Intron	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	305										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TAGAAGGGATCTTGTAAAAGA	0.338																																																	0								ENSG00000185306						156	138	143					12																	64706514		692	1591	2283	C12orf56	SO:0001583	missense	0			-	HGNC		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.913G>C	12.37:g.64706514C>G	ENSP00000446101:p.Asp305His	Somatic	0	15	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69		Missense_Mutation	SNP	26	0	0	60	42.86	45	NULL	p.D305H	ENST00000543942.2	37	c.913		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.487|7.487	0.649774|0.649774	0.14516|0.14516	.|.	.|.	ENSG00000185306|ENSG00000185306	ENST00000433716|ENST00000543942;ENST00000543259	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	T|T	0.59473|0.59473	0.2196|0.2196	M|M	0.71581|0.71581	2.175|2.175	0.25264|0.25264	N|N	0.989578|0.989578	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53507|0.53507	-0.8429|-0.8429	5|5	.|.	.|.	.|.	.|.	13.7156|13.7156	0.62693|0.62693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	H|N	308|303;156	.|.	.|.	D|K	-|-	1|3	0|2	C12orf56|C12orf56	62992781|62992781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.408000|0.408000	0.30992|0.30992	3.182000|3.182000	0.50910|0.50910	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	GAT|AAG	-	NULL		0.338	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	protein_coding	OTTHUMT00000401058.2	C	NM_001099676	-		64706514	-1	no_errors	ENST00000543942	ensembl	human	putative	74_37	missense	SNP	1.000	G	G	64706514	C	G	64706514	3	3	41	1	0	0	0	0	1	0	0	0	1702	913	32	4	991	4	C12orf56	12	64706514	Missense_Mutation	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09	47	64706514	69145381	25	2479			3	31	6745507	2	2	48	C		5.010089e-05
GCNT3	9245	genome.wustl.edu	37	chr15	59911094	59911094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccagagctcagtgccGtggaaatacttcctgaatac	9	11	1	2	rs200140304		TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr15:59911094G>A	ENST00000396065.1	+	3	1105	c.657G>A	c.(655-657)ccG>ccA	p.P219P	GCNT3_ENST00000560585.1_Silent_p.P219P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	219					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTCAGTGCCGTGGAAATACT	0.502													G|||	1	0.000199681	0	0	5008	,	,		20355	0.001		0	False		,,,				2504	0																0								ENSG00000140297	G		0,4380		0,0,2190	132	128	129		657	-12.3	0	15		129	1,8579	1.2+/-3.3	0,1,4289	no	coding-synonymous	GCNT3	NM_004751.2		0,1,6479	AA,AG,GG		0.0117,0.0,0.0077		219/439	59911094	1,12959	2190	4290	6480	GCNT3	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.657G>A	15.37:g.59911094G>A		Somatic	0	52	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71		Silent	SNP	29	0	0	44	25.42	15	pfam_Glyco_trans_14	p.P219	ENST00000396065.1	37	c.657	CCDS10172.1	15																																																																																			-	pfam_Glyco_trans_14		0.502	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	protein_coding	OTTHUMT00000256068.1	G	NM_004751	rs200140304		59911094	1	no_errors	ENST00000396065	ensembl	human	known	74_37	silent	SNP	0.000	A	A	59911094	G	A	59911094	2	1	41	1	0	0	0	0	0	0	0	1	6304	1132	40	1		1	GCNT3	15	59911094	Silent	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		59911094	42620298	26	2480											
TOX3	27324	genome.wustl.edu	37	chr16	52473155	52473155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaaaatactgacctgCgataatacttgagtctgtgt	8	8	2	3			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr16:52473155C>T	ENST00000219746.9	-	7	1997	c.1713G>A	c.(1711-1713)tcG>tcA	p.S571S	TOX3_ENST00000407228.3_Silent_p.S566S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	571	Gln-rich.				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						TACTGACCTGCGATAATACTT	0.507																																																	0								ENSG00000103460						46	46	46					16																	52473155		2000	4189	6189	TOX3	SO:0001819	synonymous_variant	0			-	HGNC	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.1713G>A	16.37:g.52473155C>T		Somatic	0	39	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	B4DRD0|B5MCW4	Silent	SNP	28	0	0	38	22.45	11	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S571	ENST00000219746.9	37	c.1713	CCDS54009.1	16																																																																																			-	NULL		0.507	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	protein_coding	OTTHUMT00000422534.1	C	XM_049037	-		52473155	-1	no_errors	ENST00000219746	ensembl	human	known	74_37	silent	SNP	0.011	T	T	52473155	C	T	52473155	2	4	41	1	0	0	0	0	0	0	0	1	16386	755	27	1		1	TOX3	16	52473155	Silent	SNP	C	TCGA-DX-A3LU-01A-11D-A21Q-09		52473155	37881598	27	2481											
RSPRY1	89970	genome.wustl.edu	37	chr16	57261275	57261275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggctacggcattggggatGatgaatactcctgtgcgtat	13	7	0	2			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr16:57261275G>A	ENST00000537866.1	+	11	2056	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.D395N|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CATTGGGGATGATGAATACTC	0.502																																																	0								ENSG00000159579						134	104	114					16																	57261275		2198	4300	6498	RSPRY1	SO:0001583	missense	0			-	HGNC	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1183G>A	16.37:g.57261275G>A	ENSP00000443176:p.Asp395Asn	Somatic	0	32	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	Q6UX21|Q8ND53	Missense_Mutation	SNP	33	0	0	27	41.30	19	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.D395N	ENST00000537866.1	37	c.1183	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.722385	0.96839	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.74106	-0.81;-0.81	6.16	6.16	0.99307	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	0.88291	0.6397	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87333	0.2326	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	395	Q96DX4	RSPRY_HUMAN	N	395	ENSP00000377942:D395N;ENSP00000443176:D395N	ENSP00000377942:D395N	D	+	1	0	RSPRY1	55818776	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAT	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.502	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	protein_coding	OTTHUMT00000432953.1	G	NM_133368	-		57261275	1	no_errors	ENST00000394420	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57261275	G	A	57261275	3	1	41	1	0	0	0	0	1	0	0	0	13721	1290	45	2	1221	2	RSPRY1	16	57261275	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	4788120	57261275	33093478	28	2482											
MYO5B	4645	genome.wustl.edu	37	chr18	47404149	47404149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctccacctgctggaggGcatcctcagtgtctccgatc	9	16	3	0			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr18:47404149G>A	ENST00000285039.7	-	25	3679	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	MYO5B_ENST00000324581.6_Missense_Mutation_p.A268V|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1127					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)	p.A1127D(1)		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)		CTGCTGGAGGGCATCCTCAGT	0.502																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000167306						166	163	164					18																	47404149		1999	4174	6173	MYO5B	SO:0001583	missense	0			-	HGNC	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.3380C>T	18.37:g.47404149G>A	ENSP00000285039:p.Ala1127Val	Somatic	0	57	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	42	0	0	48	21.31	13	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1127V	ENST00000285039.7	37	c.3380	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079486	0.36662	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.17370	2.28;2.28	5.67	5.67	0.87782	.	0.307790	0.34603	N	0.003828	T	0.09818	0.0241	N	0.08118	0	0.36340	D	0.859399	B;B	0.33103	0.002;0.397	B;B	0.32465	0.004;0.146	T	0.35649	-0.9780	10	0.28530	T	0.3	.	13.9919	0.64372	0.0745:0.0:0.9255:0.0	.	1127;268	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	V	1127;268	ENSP00000285039:A1127V;ENSP00000315531:A268V	ENSP00000285039:A1127V	A	-	2	0	MYO5B	45658147	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.997000	0.70646	2.681000	0.91329	0.561000	0.74099	GCC	-	NULL		0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	G		-		47404149	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	SNP	0.997	A	A	47404149	G	A	47404149	3	1	41	1	0	0	0	0	1	0	0	0	10081	1203	42	2	2230	2	MYO5B	18	47404149	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09		47404149	30673099	29	2483											
BPIL3	128859	genome.wustl.edu	37	chr20	31619530	31619530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggcactgctgcggtTgggcatggacatcatgaacc	14	12	1	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr20:31619530T>G	ENST00000349552.1	+	1	77	c.77T>G	c.(76-78)tTg>tGg	p.L26W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	26						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTGCTGCGGTTGGGCATGGAC	0.652																																																	0								ENSG00000167104						46	34	38					20																	31619530		2203	4299	6502	BPIFB6	SO:0001583	missense	0			-	HGNC	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.77T>G	20.37:g.31619530T>G	ENSP00000344929:p.Leu26Trp	Somatic	0	126	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	78	25.71		Missense_Mutation	SNP	33	0	0	28	34.88	15	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.L26W	ENST00000349552.1	37	c.77	CCDS13211.1	20	.	.	.	.	.	.	.	.	.	.	T	19.36	3.811921	0.70797	.	.	ENSG00000167104	ENST00000349552	T	0.06608	3.28	5.12	5.12	0.69794	.	0.165039	0.28225	N	0.016138	T	0.21674	0.0522	M	0.68317	2.08	0.33358	D	0.57196	D	0.89917	1.0	D	0.87578	0.998	T	0.22034	-1.0228	10	0.87932	D	0	.	11.308	0.49347	0.0:0.0:0.0:1.0	.	26	Q8NFQ5	BPIB6_HUMAN	W	26	ENSP00000344929:L26W	ENSP00000344929:L26W	L	+	2	0	BPIFB6	31083191	0.997000	0.39634	0.983000	0.44433	0.738000	0.42128	3.915000	0.56409	1.937000	0.56155	0.459000	0.35465	TTG	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.652	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	protein_coding	OTTHUMT00000078658.2	T	NM_174897	-		31619530	1	no_errors	ENST00000349552	ensembl	human	known	74_37	missense	SNP	0.996	G	G	31619530	T	G	31619530	3	3	41	1	0	0	0	0	1	0	0	0	1495	1821	63	5	79	5	BPIL3	20	31619530	Missense_Mutation	SNP	T	TCGA-DX-A3LU-01A-11D-A21Q-09		31619530	31405990	30	2484											
ZNF335	63925	genome.wustl.edu	37	chr20	44581055	44581055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttggctggagatggggGctcagggccgtctctgggca	19	9	3	1			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chr20:44581055G>A	ENST00000322927.2	-	20	3020	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S	ZNF335_ENST00000426788.1_Missense_Mutation_p.P819S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	974					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGAGATGGGGGCTCAGGGCCG	0.657																																																	0								ENSG00000198026						30	34	33					20																	44581055		2203	4300	6503	ZNF335	SO:0001583	missense	0			-	HGNC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2920C>T	20.37:g.44581055G>A	ENSP00000325326:p.Pro974Ser	Somatic	0	46	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	38	0	0	36	21.74	10	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P974S	ENST00000322927.2	37	c.2920	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833491	0.16820	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.08896	3.19;3.04	4.66	2.67	0.31697	.	0.469539	0.20068	N	0.099938	T	0.04543	0.0124	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.006;0.099	B;B	0.19391	0.005;0.025	T	0.37174	-0.9717	10	0.34782	T	0.22	-9.9949	1.4709	0.02415	0.1897:0.1776:0.4626:0.1701	.	819;974	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	974;751;819	ENSP00000325326:P974S;ENSP00000397098:P819S	ENSP00000243961:P751S	P	-	1	0	ZNF335	44014462	0.739000	0.28196	0.857000	0.33713	0.916000	0.54674	0.840000	0.27600	0.541000	0.28827	0.561000	0.74099	CCC	-	NULL		0.657	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	G	NM_022095	-		44581055	-1	no_errors	ENST00000322927	ensembl	human	known	74_37	missense	SNP	0.129	A	A	44581055	G	A	44581055	3	1	41	1	0	0	0	0	1	0	0	0	17859	1203	42	2	1144	2	ZNF335	20	44581055	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	12961525	44581055	18444465	31	2485											
PAK3	5063	genome.wustl.edu	37	chrX	110406911	110406912	+	Frame_Shift_Ins	INS	-	-	A													aggaacacagatcggcaaagINSaaaaaaatccaagatgacag							TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chrX:110406911_110406912insA	ENST00000372010.1	+	11	1209_1210	c.767_768insA	c.(766-771)agaaaafs	p.RK256fs	PAK3_ENST00000425146.1_Frame_Shift_Ins_p.RK241fs|PAK3_ENST00000262836.4_Frame_Shift_Ins_p.RK256fs|PAK3_ENST00000417227.1_Frame_Shift_Ins_p.RK262fs|PAK3_ENST00000360648.4_Frame_Shift_Ins_p.RK277fs|PAK3_ENST00000372007.5_Frame_Shift_Ins_p.RK241fs|PAK3_ENST00000519681.1_Frame_Shift_Ins_p.RK262fs|PAK3_ENST00000518291.1_Frame_Shift_Ins_p.RK277fs|PAK3_ENST00000446737.1_Frame_Shift_Ins_p.RK241fs			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	256	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATCGGCAAAGAAAAAAATCCA	0.416										TSP Lung(19;0.15)																																							0								ENSG00000077264																																			PAK3	SO:0001589	frameshift_variant	0				HGNC	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.774dupA	X.37:g.110406918_110406918dupA	ENSP00000361080:p.Arg256fs	Somatic	0	10	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Frame_Shift_Ins	INS	17	0	0	15	51.61	16	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.S280fs	ENST00000372010.1	37	c.830_831	CCDS48153.1	X																																																																																			-	NULL		0.416	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	protein_coding	OTTHUMT00000057918.1	-	NM_002578			110406912	1	no_errors	ENST00000360648	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	110406912	-	A	110406911	7	5	41	1	0	1	1	0	0	0	0	0	11404	942	33	0	860	0	PAK3	23	110406911	Frame_Shift_Ins	INS	-	TCGA-DX-A3LU-01A-11D-A21Q-09		110406911	44863649	32	2486											
OPN1LW	5956	genome.wustl.edu	37	chrX	153421955	153421955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgccggcctactttGccaaaagtgccactatctac	7	16	1	0			TCGA-DX-A3LU-01A-11D-A21Q-09	TCGA-DX-A3LU-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d734d06-f2b1-4924-a201-620ac8084c49	97a68a03-dc99-4ba9-8b81-1b40f2ce32ea	g.chrX:153421955G>A	ENST00000369951.4	+	5	991	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	311					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCTACTTTGCCAAAAGTGC	0.537																																																	0								ENSG00000102076						309	279	289					X																	153421955		2195	4273	6468	OPN1LW	SO:0001583	missense	0			-	HGNC	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.931G>A	X.37:g.153421955G>A	ENSP00000358967:p.Ala311Thr	Somatic	0	33	0		0.682940462031685				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11		Missense_Mutation	SNP	8	0	0	25	0.00	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.A311T	ENST00000369951.4	37	c.931	CCDS14742.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968814	0.74131	.	.	ENSG00000102076	ENST00000369951	T	0.39229	1.09	4.57	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.90595	3.13	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.73357	-0.4008	10	0.87932	D	0	.	10.1068	0.42539	0.0:0.0:0.6687:0.3313	.	311	P04000	OPSR_HUMAN	T	311	ENSP00000358967:A311T	ENSP00000358967:A311T	A	+	1	0	OPN1LW	153075149	0.974000	0.33945	1.000000	0.80357	0.981000	0.71138	0.666000	0.25097	1.989000	0.58080	0.436000	0.28706	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin		0.537	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	protein_coding	OTTHUMT00000082839.2	G	NM_020061	-		153421955	1	no_errors	ENST00000369951	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153421955	G	A	153421955	3	1	41	1	0	0	0	0	1	0	0	0	10879	1319	46	2	949	2	OPN1LW	23	153421955	Missense_Mutation	SNP	G	TCGA-DX-A3LU-01A-11D-A21Q-09	43015044	153421955	1848605	33	2487											
EPHB2	2048	genome.wustl.edu	37	chr1	23111560	23111560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgttgagaatggcaccGtctgccgaggtaagggccag	16	10	1	1	rs369702152		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:23111560G>A	ENST00000400191.3	+	3	820	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	EPHB2_ENST00000544305.1_Missense_Mutation_p.V268I|EPHB2_ENST00000374632.3_Missense_Mutation_p.V268I|EPHB2_ENST00000374630.3_Missense_Mutation_p.V268I|EPHB2_ENST00000374627.1_Missense_Mutation_p.V262I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	268	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GAATGGCACCGTCTGCCGAGG	0.622																																																	0								ENSG00000133216	G	ILE/VAL,ILE/VAL	2,4404		0,2,2201	37	39	38		802,802	0.6	1	1		38	0,8600		0,0,4300	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	268/988,268/987	23111560	2,13004	2203	4300	6503	EPHB2	SO:0001583	missense	0			-	HGNC	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.802G>A	1.37:g.23111560G>A	ENSP00000383053:p.Val268Ile	Somatic	0	96	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	9	80.00	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V268I	ENST00000400191.3	37	c.802		1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155581	0.38021	4.54E-4	0.0	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.12	0.611	0.17586	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.316226	0.29087	N	0.013192	T	0.09113	0.0225	L	0.34521	1.04	0.26244	N	0.978824	B;B;B;B	0.31989	0.164;0.35;0.037;0.013	B;B;B;B	0.31442	0.13;0.06;0.06;0.036	T	0.28004	-1.0057	10	0.28530	T	0.3	.	8.872	0.35323	0.3648:0.0:0.6352:0.0	.	268;268;286;268	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	I	268;268;268;268;268;262	ENSP00000444174:V268I;ENSP00000363761:V268I;ENSP00000383053:V268I;ENSP00000363763:V268I;ENSP00000363758:V262I	ENSP00000363755:V268I	V	+	1	0	EPHB2	22984147	0.000000	0.05858	0.993000	0.49108	0.991000	0.79684	0.542000	0.23222	0.202000	0.20498	0.460000	0.39030	GTC	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom		0.622	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	protein_coding	OTTHUMT00000008060.2	G	NM_017449	-		23111560	1	no_errors	ENST00000400191	ensembl	human	known	74_37	missense	SNP	0.961	A	A	23111560	G	A	23111560	3	1	42	1	0	0	0	0	1	0	0	0	5177	1145	40	1	812	1	EPHB2	1	23111560	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09		23111560	226139061	1	2488											
DDAH1	23576	genome.wustl.edu	37	chr1	85787222	85787222	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagacatgctcacggggatCagcatatggtccttcagttt	10	10	4	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:85787222C>G	ENST00000284031.8	-	6	865	c.771G>C	c.(769-771)ctG>ctC	p.L257L	DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000535924.2_Silent_p.L154L|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Silent_p.L157L|DDAH1_ENST00000426972.3_Silent_p.L164L|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Silent_p.L257L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	257					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TCACGGGGATCAGCATATGGT	0.443																																																	0								ENSG00000153904						112	100	104					1																	85787222		2203	4300	6503	DDAH1	SO:0001819	synonymous_variant	0			-	HGNC	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.771G>C	1.37:g.85787222C>G		Somatic	0	67	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	Q5HYC8|Q86XK5	Silent	SNP							pfam_Amidino_trans	p.L257	ENST00000284031.8	37	c.771	CCDS705.1	1																																																																																			-	pfam_Amidino_trans		0.443	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	protein_coding	OTTHUMT00000029189.1	C		-		85787222	-1	no_errors	ENST00000284031	ensembl	human	known	74_37	silent	SNP	1.000	G	G	85787222	C	G	85787222	2	3	42	1	0	0	0	0	0	0	0	1	4323	813	29	4		4	DDAH1	1	85787222	Silent	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09	62675662	85787222	163463399	2	2489											
HSD3B1	3283	genome.wustl.edu	37	chr1	120056737	120056737	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggggaaggaagccgattCctttctgctagtataaacga	11	7	1	0			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:120056737C>T	ENST00000369413.3	+	4	736	c.591C>T	c.(589-591)ttC>ttT	p.F197F	HSD3B1_ENST00000528909.1_Silent_p.F197F|HSD3B1_ENST00000235547.6_Silent_p.F199F			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	197					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)	GAAGCCGATTCCTTTCTGCTA	0.498																																																	0								ENSG00000203857						89	87	87					1																	120056737		2203	4300	6503	HSD3B1	SO:0001819	synonymous_variant	0			-	HGNC	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.591C>T	1.37:g.120056737C>T		Somatic	0	64	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	37.74	A8K691|Q14545|Q8IV65	Silent	SNP							pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.F199	ENST00000369413.3	37	c.597	CCDS903.1	1																																																																																			-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct		0.498	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	protein_coding	OTTHUMT00000034993.3	C	NM_000862	-		120056737	1	no_errors	ENST00000235547	ensembl	human	known	74_37	silent	SNP	0.006	T	T	120056737	C	T	120056737	2	4	42	1	0	0	0	0	0	0	0	1	7392	854	30	2		2	HSD3B1	1	120056737	Silent	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09	34269515	120056737	129193884	3	2490											
PEX11B	8799	genome.wustl.edu	37	chr1	145522894	145522894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctattctcaccctaatctAtccctggctacgactcaagc	5	15	4	0			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:145522894A>G	ENST00000369306.3	+	4	904	c.755A>G	c.(754-756)tAt>tGt	p.Y252C	PEX11B_ENST00000537888.1_Missense_Mutation_p.Y238C|ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	252	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCCTAATCTATCCCTGGCTA	0.552																																																	0								ENSG00000131779						95	85	88					1																	145522894		2203	4300	6503	PEX11B	SO:0001583	missense	0			-	HGNC	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.755A>G	1.37:g.145522894A>G	ENSP00000358312:p.Tyr252Cys	Somatic	0	28	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP							pfam_PEX11	p.Y252C	ENST00000369306.3	37	c.755	CCDS917.1	1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.508849	0.27036	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T	0.42900	0.98;0.96	5.44	-0.747	0.11091	.	0.284838	0.40302	N	0.001127	T	0.10680	0.0261	N	0.25485	0.75	0.29447	N	0.85873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26916	-1.0089	10	0.36615	T	0.2	0.1628	9.6263	0.39752	0.5936:0.0:0.4064:0.0	.	238;252	B4DXH9;O96011	.;PX11B_HUMAN	C	252;238;74	ENSP00000358312:Y252C;ENSP00000437510:Y238C	ENSP00000358312:Y252C	Y	+	2	0	PEX11B	144234251	0.799000	0.28903	0.947000	0.38551	0.913000	0.54294	2.223000	0.42936	-0.288000	0.09051	-0.912000	0.02778	TAT	-	NULL		0.552	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11B	protein_coding	OTTHUMT00000038549.1	A	NM_003846	-		145522894	1	no_errors	ENST00000369306	ensembl	human	known	74_37	missense	SNP	0.992	G	G	145522894	A	G	145522894	3	3	42	1	0	0	0	0	1	0	0	0	11740	449	16	5	787	5	PEX11B	1	145522894	Missense_Mutation	SNP	A	TCGA-DX-A3LW-01A-21D-A21Q-09	25466157	145522894	103727727	4	2491											
FLG	2312	genome.wustl.edu	37	chr1	152275633	152275633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagactgtacatgactgGctgtatcgcggtgagaggat	15	6	0	4			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:152275633G>T	ENST00000368799.1	-	3	11764	c.11729C>A	c.(11728-11730)gCc>gAc	p.A3910D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3910	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)			TACATGACTGGCTGTATCGCG	0.502									Ichthyosis																																								0								ENSG00000143631						108	106	107					1																	152275633		2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.11729C>A	1.37:g.152275633G>T	ENSP00000357789:p.Ala3910Asp	Somatic	0	120	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	54	44.33	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A3910D	ENST00000368799.1	37	c.11729	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387337	0.11581	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	2.28	-4.56	0.03431	.	.	.	.	.	T	0.01254	0.0041	L	0.49126	1.545	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41448	-0.9508	9	0.36615	T	0.2	.	5.4534	0.16578	0.0:0.1917:0.475:0.3333	.	3910	P20930	FILA_HUMAN	D	3910	ENSP00000357789:A3910D	ENSP00000357789:A3910D	A	-	2	0	FLG	150542257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.202000	0.00142	-1.818000	0.01218	-1.011000	0.02470	GCC	-	NULL		0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	-		152275633	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152275633	G	T	152275633	3	4	42	1	0	0	0	0	1	0	0	0	5924	1203	42	3	460	3	FLG	1	152275633	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	6752739	152275633	96974988	5	2492											
GREB1	9687	genome.wustl.edu	37	chr2	11780503	11780503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggacgagtggcagttcCggctgcgcgatgagttccag	16	10	0	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:11780503C>T	ENST00000381486.2	+	33	6073	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W	GREB1_ENST00000234142.5_Missense_Mutation_p.R1925W|GREB1_ENST00000396123.1_Missense_Mutation_p.R923W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1925						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)		GTGGCAGTTCCGGCTGCGCGA	0.617																																					Ovarian(39;850 945 2785 23371 33093)												0								ENSG00000196208						48	57	54					2																	11780503		2028	4163	6191	GREB1	SO:0001583	missense	0			-	HGNC		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.5773C>T	2.37:g.11780503C>T	ENSP00000370896:p.Arg1925Trp	Somatic	0	41	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.R1925W	ENST00000381486.2	37	c.5773	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232348	0.79688	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33438	2.73;2.73;1.41	5.04	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.61451	-0.7060	10	0.87932	D	0	-27.1738	16.0839	0.81025	0.1433:0.8566:0.0:0.0	.	1925	Q4ZG55	GREB1_HUMAN	W	1925;1925;923	ENSP00000370896:R1925W;ENSP00000234142:R1925W;ENSP00000379429:R923W	ENSP00000234142:R1925W	R	+	1	2	GREB1	11697954	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.852000	0.48310	2.316000	0.78162	0.563000	0.77884	CGG	-	NULL		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	C	NM_014668	-		11780503	1	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11780503	C	T	11780503	3	4	42	1	0	0	0	0	1	0	0	0	6762	643	23	1	6007	1	GREB1	2	11780503	Missense_Mutation	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09		11780503	231418870	6	2493											
IL1F8	27177	genome.wustl.edu	37	chr2	113785508	113785508	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaatctaagtagaagttaGtgttattagttatgcctctc	8	6	2	2			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:113785508G>T	ENST00000259213.4	-	4	369				IL36B_ENST00000327407.2_Missense_Mutation_p.T149N	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta						immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						GTAGAAGTTAGTGTTATTAGT	0.463																																																	0								ENSG00000136696						76	71	73					2																	113785508		2203	4300	6503	IL36B	SO:0001627	intron_variant	0			-	HGNC	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.261+1007C>A	2.37:g.113785508G>T		Somatic	0	113	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	80	19.19	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP							pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta	p.T149N	ENST00000259213.4	37	c.446	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	g	15.59	2.877619	0.51801	.	.	ENSG00000136696	ENST00000327407	T	0.22743	1.94	4.85	3.75	0.43078	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.10042	-1.0647	8	0.72032	D	0.01	.	8.9381	0.35713	0.1211:0.0:0.8789:0.0	.	149	Q9NZH7-2	.	N	149	ENSP00000328420:T149N	ENSP00000328420:T149N	T	-	2	0	IL36B	113501979	0.251000	0.23961	0.265000	0.24526	0.139000	0.21198	1.173000	0.31920	2.238000	0.73509	0.556000	0.70494	ACT	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	protein_coding	OTTHUMT00000254110.1	G	NM_014438	-		113785508	-1	no_errors	ENST00000327407	ensembl	human	known	74_37	missense	SNP	0.032	T	T	113785508	G	T	113785508	1	4	42	0	1	0	0	0	0	0	0	0	7658	1029	36	3		3	IL1F8	2	113785508	Intron	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	102005005	113785508	129413865	7	2494											
NRP2	8828	genome.wustl.edu	37	chr2	206608046	206608046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgcctggttagcagcCgctcgggctggttccctcga	13	16	0	0			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:206608046C>T	ENST00000357785.5	+	9	1442	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C	NRP2_ENST00000417189.1_Missense_Mutation_p.R471C|NRP2_ENST00000357118.4_Missense_Mutation_p.R471C|NRP2_ENST00000360409.3_Missense_Mutation_p.R471C|NRP2_ENST00000540178.1_Missense_Mutation_p.R471C|NRP2_ENST00000412873.2_Missense_Mutation_p.R471C|NRP2_ENST00000272849.3_Missense_Mutation_p.R471C|NRP2_ENST00000355117.4_Missense_Mutation_p.R471C|NRP2_ENST00000540841.1_Missense_Mutation_p.R471C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGTTAGCAGCCGCTCGGGCTG	0.612																																																	0								ENSG00000118257						62	72	68					2																	206608046		2203	4298	6501	NRP2	SO:0001583	missense	0			-	HGNC	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1411C>T	2.37:g.206608046C>T	ENSP00000350432:p.Arg471Cys	Somatic	0	86	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	69	17.86	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP							pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.R471C	ENST00000357785.5	37	c.1411	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844395	0.91197	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-1.67;-1.67;-5.25;-5.25;-5.25;-5.25	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	M	0.89214	3.015	0.80722	D	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	0.91635	0.998;0.999;0.995;0.998;0.998;0.999	D	0.99289	1.0898	10	0.87932	D	0	-25.3417	20.3928	0.98949	0.0:1.0:0.0:0.0	.	471;471;471;471;471;471	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	471	ENSP00000353582:R471C;ENSP00000439658:R471C;ENSP00000439261:R471C;ENSP00000347238:R471C;ENSP00000387519:R471C;ENSP00000349632:R471C;ENSP00000350432:R471C;ENSP00000407626:R471C;ENSP00000272849:R471C	ENSP00000272849:R471C	R	+	1	0	NRP2	206316291	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.756000	0.85195	2.813000	0.96785	0.655000	0.94253	CGC	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	protein_coding	OTTHUMT00000336467.1	C		-		206608046	1	no_errors	ENST00000360409	ensembl	human	known	74_37	missense	SNP	1.000	T	T	206608046	C	T	206608046	3	4	42	1	0	0	0	0	1	0	0	0	10663	652	23	1	1445	1	NRP2	2	206608046	Missense_Mutation	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09	92822538	206608046	36591327	8	2495											
MARCH4	57574	genome.wustl.edu	37	chr2	217234774	217234774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggccgccaaaccgggGggctgggggtcgccgtgcat	18	11	0	0			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:217234774G>A	ENST00000273067.4	-	1	1976	c.210C>T	c.(208-210)ccC>ccT	p.P70P		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	70	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAAACCGGGGGGCTGGGGGT	0.697																																																	0								ENSG00000144583						4	5	5					2																	217234774		2076	4044	6120	MARCH4	SO:0001819	synonymous_variant	0			-	HGNC	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.210C>T	2.37:g.217234774G>A		Somatic	0	20	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	14	51.72	Q4KMN7|Q86WR8	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.P70	ENST00000273067.4	37	c.210	CCDS33376.1	2																																																																																			-	NULL		0.697	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	protein_coding	OTTHUMT00000337272.2	G	NM_020814	-		217234774	-1	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	SNP	1.000	A	A	217234774	G	A	217234774	2	1	42	1	0	0	0	0	0	0	0	1	9305	1219	43	2		2	MARCH4	2	217234774	Silent	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	10626728	217234774	25964599	9	2496											
CHRNA9	55584	genome.wustl.edu	37	chr4	40339262	40339262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attctgactgcttatttgtgGatccgccaaatctggcacga	9	10	2	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr4:40339262G>T	ENST00000310169.2	+	3	385	c.246G>T	c.(244-246)tgG>tgT	p.W82C		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	82					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CTTATTTGTGGATCCGCCAAA	0.488																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0								ENSG00000174343						105	82	90					4																	40339262		2203	4300	6503	CHRNA9	SO:0001583	missense	0			-	HGNC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.246G>T	4.37:g.40339262G>T	ENSP00000312663:p.Trp82Cys	Somatic	0	54	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	244	13.17	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.W82C	ENST00000310169.2	37	c.246	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	G	18.60	3.660035	0.67586	.	.	ENSG00000174343	ENST00000310169	T	0.81078	-1.45	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95158	0.8279	10	0.87932	D	0	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	82	Q9UGM1	ACHA9_HUMAN	C	82	ENSP00000312663:W82C	ENSP00000312663:W82C	W	+	3	0	CHRNA9	40034019	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	TGG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.488	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	protein_coding	OTTHUMT00000216822.1	G		-		40339262	1	no_errors	ENST00000310169	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40339262	G	T	40339262	3	4	42	1	0	0	0	0	1	0	0	0	3391	1183	41	3	256	3	CHRNA9	4	40339262	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09		40339262	150815014	10	2497											
CDKAL1	54901	genome.wustl.edu	37	chr6	20781386	20781386	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatttgaaggtcactctgtGagactgctgggtcagaaaaa	12	6	3	4			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:20781386G>C	ENST00000378610.1	+	6	538	c.528G>C	c.(526-528)gtG>gtC	p.V176V	CDKAL1_ENST00000378624.4_Silent_p.V106V|CDKAL1_ENST00000274695.4_Silent_p.V176V|RP3-348I23.2_ENST00000421167.1_RNA			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	176					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTCACTCTGTGAGACTGCTGG	0.398																																																	0								ENSG00000145996						153	150	151					6																	20781386		2203	4300	6503	CDKAL1	SO:0001819	synonymous_variant	0			-	HGNC	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.528G>C	6.37:g.20781386G>C		Somatic	0	45	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP							pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.V176	ENST00000378610.1	37	c.528	CCDS4546.1	6																																																																																			-	tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase		0.398	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	protein_coding	OTTHUMT00000039986.1	G	NM_017774	-		20781386	1	no_errors	ENST00000274695	ensembl	human	known	74_37	silent	SNP	1.000	C	C	20781386	G	C	20781386	2	2	42	1	0	0	0	0	0	0	0	1	3154	1277	45	4		4	CDKAL1	6	20781386	Silent	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09		20781386	150333681	11	2498											
FBXL4	26235	genome.wustl.edu	37	chr6	99374398	99374398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataaggatttgcagaacaaGcgagaattctaatgactgct	9	6	1	3			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:99374398G>T	ENST00000369244.2	-	4	895	c.467C>A	c.(466-468)gCt>gAt	p.A156D	FBXL4_ENST00000229971.1_Missense_Mutation_p.A156D	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	156					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TGCAGAACAAGCGAGAATTCT	0.388																																																	0								ENSG00000112234						93	90	91					6																	99374398		2203	4300	6503	FBXL4	SO:0001583	missense	0			-	HGNC	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.467C>A	6.37:g.99374398G>T	ENSP00000358247:p.Ala156Asp	Somatic	0	56	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.A156D	ENST00000369244.2	37	c.467	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620757	0.87460	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.27256	1.68;1.68	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56353	-0.7993	10	0.87932	D	0	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	156	Q9UKA2	FBXL4_HUMAN	D	156	ENSP00000358247:A156D;ENSP00000229971:A156D	ENSP00000229971:A156D	A	-	2	0	FBXL4	99481119	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.420000	0.97426	2.765000	0.95021	0.650000	0.86243	GCT	-	NULL		0.388	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	protein_coding	OTTHUMT00000041587.2	G		-		99374398	-1	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99374398	G	T	99374398	3	4	42	1	0	0	0	0	1	0	0	0	5723	971	34	3	1426	3	FBXL4	6	99374398	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	78593012	99374398	71740669	12	2499											
OPRM1	4988	genome.wustl.edu	37	chr6	154412167	154412167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctgtgttttcatcttcGccttcattatgccagtgctc	7	11	4	1	rs552231464		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:154412167G>A	ENST00000330432.7	+	3	961	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	OPRM1_ENST00000428397.2_Missense_Mutation_p.A242T|OPRM1_ENST00000434900.2_Missense_Mutation_p.A335T|OPRM1_ENST00000360422.4_Missense_Mutation_p.A242T|OPRM1_ENST00000524163.1_Missense_Mutation_p.A242T|OPRM1_ENST00000435918.2_Missense_Mutation_p.A242T|OPRM1_ENST00000414028.2_Missense_Mutation_p.A242T|OPRM1_ENST00000518759.1_Missense_Mutation_p.A161T|OPRM1_ENST00000419506.2_Missense_Mutation_p.A242T|OPRM1_ENST00000452687.2_Missense_Mutation_p.A242T|OPRM1_ENST00000522236.1_Missense_Mutation_p.A142T|OPRM1_ENST00000522555.1_Missense_Mutation_p.A142T|OPRM1_ENST00000520708.1_Missense_Mutation_p.A142T|OPRM1_ENST00000229768.5_Missense_Mutation_p.A242T|OPRM1_ENST00000337049.4_Missense_Mutation_p.A242T	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	242					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)	TTTCATCTTCGCCTTCATTAT	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		20826	0		0	False		,,,				2504	0																0								ENSG00000112038						184	175	178					6																	154412167		2063	4227	6290	OPRM1	SO:0001583	missense	0			-	HGNC	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.724G>A	6.37:g.154412167G>A	ENSP00000328264:p.Ala242Thr	Somatic	0	68	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	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							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.A335T	ENST00000330432.7	37	c.1003	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905395	0.92107	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	L	0.48642	1.525	0.80722	D	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;0.999;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.977;0.977;0.999;0.983;0.966;0.966;0.977;0.986;0.992;0.983;0.977	T	0.79514	-0.1772	10	0.87932	D	0	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	242;242;242;242;335;161;142;242;242;242;242;242	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	T	335;142;161;242;242;242;242;242;242;242;242;242;242;142;142	ENSP00000394624:A335T;ENSP00000430876:A142T;ENSP00000430260:A161T;ENSP00000328264:A242T;ENSP00000353598:A242T;ENSP00000411903:A242T;ENSP00000410497:A242T;ENSP00000229768:A242T;ENSP00000403549:A242T;ENSP00000430097:A242T;ENSP00000399359:A242T;ENSP00000413752:A242T;ENSP00000338381:A242T;ENSP00000429719:A142T;ENSP00000429373:A142T	ENSP00000229768:A242T	A	+	1	0	OPRM1	154453860	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	protein_coding	OTTHUMT00000042786.2	G	NM_000914	-		154412167	1	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	SNP	1.000	A	A	154412167	G	A	154412167	3	1	42	1	0	0	0	0	1	0	0	0	10889	1087	38	1	1068	1	OPRM1	6	154412167	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	55037769	154412167	16702900	13	2500											
GPR37	2861	genome.wustl.edu	37	chr7	124404542	124404542	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactctgctcctggctacgCccggaaatgccagcgcctct	9	17	2	0			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr7:124404542C>A	ENST00000303921.2	-	1	1139	c.489G>T	c.(487-489)ggG>ggT	p.G163G		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	163					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTGGCTACGCCCGGAAATGC	0.597																																																	0								ENSG00000170775						59	69	66					7																	124404542		2203	4300	6503	GPR37	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.489G>T	7.37:g.124404542C>A		Somatic	0	59	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.G163	ENST00000303921.2	37	c.489	CCDS5792.1	7																																																																																			-	NULL		0.597	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	protein_coding	OTTHUMT00000347873.1	C	NM_005302	-		124404542	-1	no_errors	ENST00000303921	ensembl	human	known	74_37	silent	SNP	0.019	A	A	124404542	C	A	124404542	2	1	42	1	0	0	0	0	0	0	0	1	6693	726	26	3		3	GPR37	7	124404542	Silent	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09		124404542	34734121	14	2501											
KEL	3792	genome.wustl.edu	37	chr7	142651354	142651354	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcagaaactggaacagccGtgaagtgatggagattgaca	12	8	1	5	rs8176059	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr7:142651354G>C	ENST00000355265.2	-	8	1315	c.841C>G	c.(841-843)Cgg>Ggg	p.R281G	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	281			R -> Q (in KEL21/Kp(c) antigen).|R -> W (in KEL3/Kp(a) antigen; dbSNP:rs8176059). {ECO:0000269|Ref.3}.		vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAACAGCCGTGAAGTGATG	0.567																																																	0			GRCh37	CM962684	KEL	M	rs8176059	ENSG00000197993						74	78	77					7																	142651354		2203	4300	6503	KEL	SO:0001583	missense	0			-	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.841C>G	7.37:g.142651354G>C	ENSP00000347409:p.Arg281Gly	Somatic	0	58	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R281G	ENST00000355265.2	37	c.841	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	G	5.819	0.335433	0.11013	.	.	ENSG00000197993	ENST00000355265	T	0.74526	-0.85	6.07	-1.83	0.07833	Peptidase M13 (1);	1.168140	0.06385	N	0.715978	T	0.66597	0.2805	L	0.36672	1.1	0.09310	N	1	P	0.35468	0.503	B	0.32583	0.148	T	0.58346	-0.7652	10	0.52906	T	0.07	-7.2575	16.4531	0.83998	0.0:0.0:0.3244:0.6756	.	281	P23276	KELL_HUMAN	G	281	ENSP00000347409:R281G	ENSP00000347409:R281G	R	-	1	2	KEL	142361476	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.025000	0.13577	-0.151000	0.11176	-0.485000	0.04761	CGG	-	pfam_Peptidase_M13_N		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	G	NM_000420	-		142651354	-1	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	SNP	0.000	C	C	142651354	G	C	142651354	3	2	42	1	0	0	0	0	1	0	0	0	8144	1144	40	4	1405	4	KEL	7	142651354	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	18246812	142651354	16487309	15	2502											
WRN	7486	genome.wustl.edu	37	chr8	30938397	30938397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggtttctatcttacTaaaggatatttcagaaaatc	6	5	3	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr8:30938397T>G	ENST00000298139.5	+	9	1103	c.854T>G	c.(853-855)cTa>cGa	p.L285R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	285					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)		TCTATCTTACTAAAGGATATT	0.299			"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)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								ENSG00000165392						24	27	26					8																	30938397		2180	4285	6465	WRN	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria	-	HGNC		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.854T>G	8.37:g.30938397T>G	ENSP00000298139:p.Leu285Arg	Somatic	0	41	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	A1KYY9	Missense_Mutation	SNP							pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L285R	ENST00000298139.5	37	c.854	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210894	0.39102	.	.	ENSG00000165392	ENST00000298139	T	0.57107	0.42	5.83	5.83	0.93111	.	0.167294	0.39687	N	0.001293	T	0.70675	0.3251	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.66598	-0.5883	10	0.87932	D	0	-5.7871	14.4426	0.67327	0.0:0.0:0.0:1.0	.	285	Q14191	WRN_HUMAN	R	285	ENSP00000298139:L285R	ENSP00000298139:L285R	L	+	2	0	WRN	31057939	0.943000	0.32029	0.211000	0.23655	0.108000	0.19459	4.608000	0.61141	2.236000	0.73375	0.533000	0.62120	CTA	-	NULL		0.299	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	T		-		30938397	1	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	SNP	0.045	G	G	30938397	T	G	30938397	3	3	42	1	0	0	0	0	1	0	0	0	17409	1522	53	5	884	5	WRN	8	30938397	Missense_Mutation	SNP	T	TCGA-DX-A3LW-01A-21D-A21Q-09		30938397	115425625	16	2503											
CD163	9332	genome.wustl.edu	37	chr12	7633778	7633778	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggaattcattaggtccaGatcatctgcattcaggcaag	10	8	4	2			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:7633778G>T	ENST00000359156.4	-	15	3524	c.3322C>A	c.(3322-3324)Ctg>Atg	p.L1108M	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.L1108M|CD163_ENST00000396620.3_Missense_Mutation_p.L1141M|CD163_ENST00000541972.1_Missense_Mutation_p.L1096M	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1108					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATTAGGTCCAGATCATCTGCA	0.468																																																	0								ENSG00000177575						130	123	125					12																	7633778		2203	4300	6503	CD163	SO:0001583	missense	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3322C>A	12.37:g.7633778G>T	ENSP00000352071:p.Leu1108Met	Somatic	0	49	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.L1108M	ENST00000359156.4	37	c.3322	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781282	0.49891	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01369	5.07;5.01;4.97;5.01	5.28	3.4	0.38934	.	0.492611	0.15233	N	0.273302	T	0.02767	0.0083	L	0.27053	0.805	0.26626	N	0.97256	P;D;P	0.61080	0.736;0.989;0.877	B;P;P	0.59487	0.372;0.858;0.467	T	0.50947	-0.8767	10	0.41790	T	0.15	.	8.5593	0.33501	0.0861:0.1576:0.7562:0.0	.	1141;1108;1108	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	M	1108;1096;1141;1108	ENSP00000352071:L1108M;ENSP00000444071:L1096M;ENSP00000379863:L1141M;ENSP00000403885:L1108M	ENSP00000352071:L1108M	L	-	1	2	CD163	7525045	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.586000	0.23894	1.341000	0.45600	0.455000	0.32223	CTG	-	NULL		0.468	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	G	NM_004244, NM_203416	-		7633778	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	SNP	0.997	T	T	7633778	G	T	7633778	3	4	42	1	0	0	0	0	1	0	0	0	2969	933	33	3	156	3	CD163	12	7633778	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09		7633778	126218117	17	2504											
PPHLN1	51535	genome.wustl.edu	37	chr12	42835144	42835144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagactgtgaaactttcGggatggtggtgaaaatgctg	14	5	0	3	rs199841802		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:42835144G>A	ENST00000395568.2	+	10	1021	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	PPHLN1_ENST00000337898.6_Missense_Mutation_p.G258R|PPHLN1_ENST00000358314.7_Missense_Mutation_p.G313R|PPHLN1_ENST00000317560.9_Missense_Mutation_p.G246R|PPHLN1_ENST00000449194.2_Missense_Mutation_p.G294R|PPHLN1_ENST00000256678.8_Missense_Mutation_p.G193R|PPHLN1_ENST00000395580.3_Missense_Mutation_p.G320R|PPHLN1_ENST00000432191.2_Missense_Mutation_p.G258R|PPHLN1_ENST00000549190.1_Missense_Mutation_p.G331R|PPHLN1_ENST00000552761.1_Missense_Mutation_p.G265R	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	313					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAACTTTCGGGATGGTGGT	0.378													G|||	1	0.000199681	0	0.0014	5008	,	,		18706	0		0	False		,,,				2504	0																0								ENSG00000134283						163	157	159					12																	42835144		2203	4300	6503	PPHLN1	SO:0001583	missense	0			GMAF=0	HGNC	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.937G>A	12.37:g.42835144G>A	ENSP00000378935:p.Gly313Arg	Somatic	0	111	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	82	14.58	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP							NULL	p.G313R	ENST00000395568.2	37	c.937	CCDS31777.1	12	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.8	4.332608	0.81801	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.06	4.2	0.49525	.	0.231267	0.51477	N	0.000092	T	0.71005	0.3289	M	0.63428	1.95	0.53688	D	0.999973	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;0.999;0.997;1.0;1.0;0.997	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.998;1.0;1.0;1.0;1.0;1.0;0.956;0.927;0.997;0.998;0.944	T	0.71041	-0.4707	9	0.54805	T	0.06	-2.4173	11.278	0.49178	0.0656:0.0:0.8064:0.1281	.	246;193;239;258;246;258;313;294;313;265;320;331	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;F8W0Q9	.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.	R	331;320;258;313;313;193;294;265;246;258	.	ENSP00000256678:G193R	G	+	1	0	PPHLN1	41121411	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.656000	0.83736	0.856000	0.35383	0.655000	0.94253	GGG	-	NULL		0.378	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	protein_coding	OTTHUMT00000404047.1	G	NM_201515	rs199841802		42835144	1	no_errors	ENST00000395568	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42835144	G	A	42835144	3	1	42	1	0	0	0	0	1	0	0	0	12317	1116	39	1	1008	1	PPHLN1	12	42835144	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	35201366	42835144	91016751	18	2505											
DIP2B	57609	genome.wustl.edu	37	chr12	51122461	51122461	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctctggtgtctctgcaGgtagggatggaaaagccaag	15	9	2	0			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:51122461G>A	ENST00000301180.5	+	30	3675	c.3641G>A	c.(3640-3642)aGt>aAt	p.S1214N		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1214						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGTCTCTGCAGGTAGGGATGG	0.517																																																	0								ENSG00000066084						92	76	82					12																	51122461		2203	4300	6503	DIP2B	SO:0001630	splice_region_variant	0			-	HGNC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3641+1G>A	12.37:g.51122461G>A		Somatic	0	120	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	85	54.79	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S1214N	ENST00000301180.5	37	c.3641	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.509985	0.96386	.	.	ENSG00000066084	ENST00000301180	T	0.43294	0.95	4.78	4.78	0.61160	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65405	-0.6176	10	0.62326	D	0.03	-12.1933	18.3929	0.90489	0.0:0.0:1.0:0.0	.	1214	Q9P265	DIP2B_HUMAN	N	1214	ENSP00000301180:S1214N	ENSP00000301180:S1214N	S	+	2	0	DIP2B	49408728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.665000	0.90641	0.655000	0.94253	AGT	-	pfam_AMP-dep_Synth/Lig		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	protein_coding	OTTHUMT00000404243.1	G	NM_173602	-	Missense_Mutation	51122461	1	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51122461	G	A	51122461	5	1	42	1	0	0	0	0	0	0	1	0	4530	1014	35	2	3759	2	DIP2B	12	51122461	Splice_Site	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	8287317	51122461	82729434	19	2506											
CNPY2	10330	genome.wustl.edu	37	chr12	56708671	56708671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgccatctggattgatccgGaaagatcccatctgaatggt	10	10	2	3			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:56708671G>C	ENST00000273308.4	-	3	708	c.168C>G	c.(166-168)ttC>ttG	p.F56L	CNPY2_ENST00000551720.1_5'UTR|PAN2_ENST00000549090.1_5'Flank|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.F56L|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	56	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GATTGATCCGGAAAGATCCCA	0.502																																																	0								ENSG00000257727						116	104	108					12																	56708671		2203	4300	6503	CNPY2	SO:0001583	missense	0			-	HGNC	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.168C>G	12.37:g.56708671G>C	ENSP00000273308:p.Phe56Leu	Somatic	0	73	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	561	12.75	B2R7B9|Q9UHE9	Missense_Mutation	SNP							pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	p.F56L	ENST00000273308.4	37	c.168	CCDS8914.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785540	0.90282	.	.	ENSG00000144785;ENSG00000144785;ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000547423;ENST00000548360;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.51	4.4	0.53042	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	M	0.85373	2.75	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.77557	0.99;0.908	T	0.60073	-0.7334	10	0.52906	T	0.07	-7.7729	4.9487	0.14002	0.2726:0.0:0.7274:0.0	.	56;56	Q9Y2B0-2;Q9Y2B0	.;CNPY2_HUMAN	L	56;56;56;56;56;4	ENSP00000446743:F56L;ENSP00000446506:F56L;ENSP00000447042:F56L;ENSP00000273308:F56L;ENSP00000448809:F56L;ENSP00000446784:F4L	ENSP00000273308:F56L	F	-	3	2	RP11-977G19.10;CNPY2	54994938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.764000	0.94973	0.655000	0.94253	TTC	-	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB		0.502	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY2	protein_coding	OTTHUMT00000408546.1	G	NM_014255	-		56708671	-1	no_errors	ENST00000273308	ensembl	human	known	74_37	missense	SNP	1.000	C	C	56708671	G	C	56708671	3	2	42	1	0	0	0	0	1	0	0	0	3630	1165	41	4	396	4	CNPY2	12	56708671	Missense_Mutation	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	5586210	56708671	77143224	20	2507											
OS9	10956	genome.wustl.edu	37	chr12	58112180	58112180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggctggcatggagcgGgaactggaaaacatcatcca	14	8	1	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:58112180G>A	ENST00000315970.7	+	11	1427	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R	OS9_ENST00000257966.8_Silent_p.R463R|OS9_ENST00000389142.5_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000551035.1_Silent_p.R430R|OS9_ENST00000435406.2_Silent_p.R410R|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Silent_p.R256R|OS9_ENST00000552285.1_Silent_p.R462R|OS9_ENST00000389146.6_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	462					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCATGGAGCGGGAACTGGAAA	0.587																																																	0								ENSG00000135506						106	104	105					12																	58112180		2203	4300	6503	OS9	SO:0001819	synonymous_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1386G>A	12.37:g.58112180G>A		Somatic	0	24	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	85	49.10	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.R462	ENST00000315970.7	37	c.1386	CCDS31843.1	12																																																																																			-	NULL		0.587	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58112180	1	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	SNP	1.000	A	A	58112180	G	A	58112180	2	1	42	1	0	0	0	0	0	0	0	1	11274	1219	43	2		2	OS9	12	58112180	Silent	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	1403509	58112180	75739715	21	2508											
FAM119B	25895	genome.wustl.edu	37	chr12	58166903	58166903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtggggatcttggcagCgctgcagggtgcgtgagctg	18	9	1	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:58166903C>T	ENST00000300209.8	+	2	406	c.281C>T	c.(280-282)gCg>gTg	p.A94V	METTL21B_ENST00000333012.5_Missense_Mutation_p.A94V|RP11-571M6.15_ENST00000471530.1_Silent_p.S31S|RP11-571M6.15_ENST00000553083.1_3'UTR|METTL21B_ENST00000551420.1_5'UTR|METTL1_ENST00000257848.7_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000324871.7_5'Flank|METTL21B_ENST00000548256.1_Missense_Mutation_p.A52V|METTL21B_ENST00000552307.1_Intron|AC025165.1_ENST00000582738.1_RNA	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	94						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						ATCTTGGCAGCGCTGCAGGGT	0.572																																																	0								ENSG00000123427						109	114	112					12																	58166903		2203	4300	6503	METTL21B	SO:0001583	missense	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.281C>T	12.37:g.58166903C>T	ENSP00000300209:p.Ala94Val	Somatic	0	105	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	554	15.71	Q9H749|Q9Y3W2	Missense_Mutation	SNP							pfam_Nicotinamide_N-MeTfrase-like	p.A94V	ENST00000300209.8	37	c.281	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.100017	0.97281	.	.	ENSG00000123427;ENSG00000123427;ENSG00000123427;ENSG00000257921	ENST00000548256;ENST00000300209;ENST00000333012;ENST00000546504	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.27	5.27	0.74061	.	0.072586	0.53938	D	0.000059	T	0.77896	0.4199	M	0.90542	3.125	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;D	0.75020	0.947;0.985	T	0.81556	-0.0879	10	0.54805	T	0.06	.	18.0001	0.89196	0.0:1.0:0.0:0.0	.	94;94	Q96AZ1;Q96AZ1-2	MT21B_HUMAN;.	V	52;94;94;23	ENSP00000447718:A52V;ENSP00000300209:A94V;ENSP00000327425:A94V;ENSP00000449544:A23V	ENSP00000300209:A94V	A	+	2	0	METTL21B;RP11-571M6.15	56453170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.022000	0.64078	2.630000	0.89119	0.555000	0.69702	GCG	-	pfam_Nicotinamide_N-MeTfrase-like		0.572	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	protein_coding	OTTHUMT00000409268.1	C	NM_015433	-		58166903	1	no_errors	ENST00000300209	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58166903	C	T	58166903	3	4	42	1	0	0	0	0	1	0	0	0	5416	768	27	1	287	1	FAM119B	12	58166903	Missense_Mutation	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09	54723	58166903	75684992	22	2509											
WIF1	11197	genome.wustl.edu	37	chr12	65449811	65449811	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtatggggtacttacGctttgaacagaggtctccct	11	8	1	2			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:65449811G>A	ENST00000286574.4	-	8	1296	c.922C>T	c.(922-924)Cct>Tct	p.P308S		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	308	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGGTACTTACGCTTTGAACAG	0.468			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0								ENSG00000156076						207	156	173					12																	65449811		2203	4300	6503	WIF1	SO:0001630	splice_region_variant	0			-	HGNC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.922+1C>T	12.37:g.65449811G>A		Somatic	0	49	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	Q6UXI1|Q8WVG4	Missense_Mutation	SNP							pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.P308S	ENST00000286574.4	37	c.922	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172309	0.21704	.	.	ENSG00000156076	ENST00000286574	T	0.28454	1.61	5.33	5.33	0.75918	Epidermal growth factor-like, type 3 (1);	0.064498	0.64402	D	0.000006	T	0.31734	0.0806	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06409	-1.0828	9	.	.	.	.	19.4186	0.94712	0.0:0.0:1.0:0.0	.	308	Q9Y5W5	WIF1_HUMAN	S	308	ENSP00000286574:P308S	.	P	-	1	0	WIF1	63736078	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.678000	0.68153	2.671000	0.90904	0.555000	0.69702	CCT	-	pfscan_EG-like_dom		0.468	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	G		-	Missense_Mutation	65449811	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65449811	G	A	65449811	5	1	42	1	0	0	0	0	0	0	1	0	17373	1101	38	1	229	1	WIF1	12	65449811	Splice_Site	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09	7282908	65449811	68402084	23	2510											
C12orf51	283450	genome.wustl.edu	37	chr12	112601934	112601934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaggatgtgccggcccCggctgcacagctccacctcc	10	19	0	0	rs375330854		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:112601934C>T	ENST00000430131.2	-	72	12559	c.11414G>A	c.(11413-11415)cGg>cAg	p.R3805Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.R4081Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4055Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3805	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGCCGGCCCCGGCTGCACAG	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		16700	0		0	False		,,,				2504	0																0								ENSG00000173064	C	GLN/ARG	3,4157		0,3,2077	22	29	26		12164	3.3	0.9	12		26	0,8380		0,0,4190	no	missense	C12orf51	NM_001109662.2	43	0,3,6267	TT,TC,CC		0.0,0.0721,0.0239	benign	4055/4247	112601934	3,12537	2080	4190	6270	HECTD4	SO:0001583	missense	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11414G>A	12.37:g.112601934C>T	ENSP00000404379:p.Arg3805Gln	Somatic	0	77	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	46.15	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R4055Q	ENST00000430131.2	37	c.12164		12	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040308	0.35989	7.21E-4	0.0	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.42131	0.98;0.98;0.98	5.17	3.33	0.38152	HECT (4);	.	.	.	.	T	0.21227	0.0511	N	0.11201	0.11	0.34442	D	0.699742	B	0.32507	0.373	B	0.23275	0.045	T	0.23119	-1.0197	9	0.56958	D	0.05	.	9.0645	0.36455	0.0:0.7731:0.0:0.2269	.	3805	Q9Y4D8	K0614_HUMAN	Q	4055;3805;4081;270	ENSP00000366783:R4055Q;ENSP00000404379:R3805Q;ENSP00000449784:R4081Q	ENSP00000366783:R4055Q	R	-	2	0	C12orf51	111086317	0.998000	0.40836	0.900000	0.35374	0.940000	0.58332	3.700000	0.54786	0.559000	0.29153	0.655000	0.94253	CGG	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.672	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		C	NM_173813	-		112601934	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	SNP	0.985	T	T	112601934	C	T	112601934	3	4	42	1	0	0	0	0	1	0	0	0	1698	652	23	1	592	1	C12orf51	12	112601934	Missense_Mutation	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09	47152123	112601934	21249961	24	2511											
KIF26A	26153	genome.wustl.edu	37	chr14	104638995	104638995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcattttttcctttggccaCatgagcctgggtaagcaccc	9	12	0	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr14:104638995C>A	ENST00000423312.2	+	7	1410	c.1410C>A	c.(1408-1410)caC>caA	p.H470Q	KIF26A_ENST00000315264.7_Missense_Mutation_p.H331Q	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	470	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTTGGCCACATGAGCCTGG	0.617																																																	0								ENSG00000066735						81	82	82					14																	104638995		2071	4194	6265	KIF26A	SO:0001583	missense	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1410C>A	14.37:g.104638995C>A	ENSP00000388241:p.His470Gln	Somatic	0	115	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.H470Q	ENST00000423312.2	37	c.1410	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667664	0.29604	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.34472	1.36;1.36	4.25	1.02	0.19986	Kinesin, motor domain (5);	.	.	.	.	T	0.08492	0.0211	N	0.00308	-1.67	0.42244	D	0.991943	B	0.29552	0.248	B	0.30179	0.112	T	0.09684	-1.0663	9	0.25106	T	0.35	.	4.8344	0.13456	0.0:0.4343:0.3285:0.2372	.	470	Q9ULI4	KI26A_HUMAN	Q	470;331	ENSP00000388241:H470Q;ENSP00000325452:H331Q	ENSP00000325452:H331Q	H	+	3	2	KIF26A	103708748	0.997000	0.39634	0.232000	0.24009	0.223000	0.24884	0.485000	0.22324	0.229000	0.21039	0.462000	0.41574	CAC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	C		-		104638995	1	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	SNP	0.976	A	A	104638995	C	A	104638995	3	1	42	1	0	0	0	0	1	0	0	0	8296	477	17	3	1436	3	KIF26A	14	104638995	Missense_Mutation	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09		104638995	2710545	25	2512											
SIN3A	25942	genome.wustl.edu	37	chr15	75722672	75722672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggatccgacgctgctgGgctgcatacaccggtgactc	13	14	0	1			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr15:75722672G>A	ENST00000394947.3	-	2	359	c.45C>T	c.(43-45)gcC>gcT	p.A15A	SIN3A_ENST00000567289.1_Silent_p.A15A|SIN3A_ENST00000360439.4_Silent_p.A15A|SIN3A_ENST00000394949.4_Silent_p.A15A	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GACGCTGCTGGGCTGCATACA	0.567																																																	0								ENSG00000169375						66	56	59					15																	75722672		2197	4294	6491	SIN3A	SO:0001819	synonymous_variant	0			-	HGNC	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.45C>T	15.37:g.75722672G>A		Somatic	0	52	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58		Silent	SNP							pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A15	ENST00000394947.3	37	c.45	CCDS10279.1	15																																																																																			-	NULL		0.567	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	protein_coding	OTTHUMT00000286469.1	G	NM_015477	-		75722672	-1	no_errors	ENST00000360439	ensembl	human	known	74_37	silent	SNP	0.998	A	A	75722672	G	A	75722672	2	1	42	1	0	0	0	0	0	0	0	1	14333	1219	43	2		2	SIN3A	15	75722672	Silent	SNP	G	TCGA-DX-A3LW-01A-21D-A21Q-09		75722672	26808720	26	2513											
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41808550	41808584	+	Splice_Site	DEL	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	-													tcttcttcttgttctctttgGggcacttccttcctcctagc					rs374633038|rs549016584		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr19:41808550_41808584delGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	ENST00000392006.3	+	12	1860_1875	c.1687_1702delGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	c.(1687-1704)gggcacttccttcctcct>ct	p.GHFLPP563fs	HNRNPUL1_ENST00000378215.4_Splice_Site_p.GHFLPP449fs|HNRNPUL1_ENST00000602130.1_Splice_Site_p.GHFLPP563fs|HNRNPUL1_ENST00000352456.3_Splice_Site_p.GHFLPP463fs|HNRNPUL1_ENST00000595018.1_Splice_Site_p.GHFLPP463fs|HNRNPUL1_ENST00000593587.1_Splice_Site_p.GHFLPP463fs|HNRNPUL1_ENST00000263367.3_Splice_Site_p.GHFLPP474fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	563	Necessary for interaction with BRD7 and transcriptional activation.|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)			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						GTTCTCTTTGGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGCCAGATGTTGG	0.536																																																	0								ENSG00000105323																																			HNRNPUL1	SO:0001630	splice_region_variant	0				HGNC	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.1688-1GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC>-	19.37:g.41808550_41808584delGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC		Somatic					0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL							pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.D582fs	ENST00000392006.3	37	c.1708_1702	CCDS12576.1	19																																																																																			-	NULL		0.536	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	protein_coding	OTTHUMT00000463406.1	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	NM_144732, NM_007040		Frame_Shift_Del	41808584	1	no_errors	ENST00000392006	ensembl	human	known	74_37	frame_shift_del	DEL	0.003:0.001:0.000:0.000:0.001:0.026:0.025:0.008:0.002:0.003:0.008:0.026:0.157:0.181:0.241:0.267:0.693:0.762:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.997:0.003:0.743:0.991:0.988:1.000	-	-	41808584	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	-	41808550	8	5	42	1	0	1	0	1	0	0	1	0	7276	1247	43	0		0	HNRNPUL1	19	41808550	Splice_Site	DEL	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	TCGA-DX-A3LW-01A-21D-A21Q-09		41808550	17320433	27	2514											
SEC14L3	266629	genome.wustl.edu	37	chr22	30857444	30857444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccgaagccgatgtccgCaccatcagatgagaactgcc	9	14	1	2			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr22:30857444C>T	ENST00000215812.4	-	11	1024	c.934G>A	c.(934-936)Gcg>Acg	p.A312T	SEC14L3_ENST00000540910.1_Missense_Mutation_p.A235T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A235T|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A253T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A253T|SEC14L3_ENST00000415957.2_Missense_Mutation_p.A253T|SEC14L3_ENST00000403066.1_Missense_Mutation_p.A253T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	312	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGATGTCCGCACCATCAGAT	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)												0								ENSG00000100012						56	51	53					22																	30857444		2203	4300	6503	SEC14L3	SO:0001583	missense	0			-	HGNC	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.934G>A	22.37:g.30857444C>T	ENSP00000215812:p.Ala312Thr	Somatic	0	61	0		0.663688954764355				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.A312T	ENST00000215812.4	37	c.934	CCDS13877.1	22	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596137	0.28445	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.52	4.49	0.54785	GOLD (2);	0.286036	0.38663	N	0.001608	T	0.45558	0.1348	M	0.75447	2.3	0.58432	D	0.999992	B;B	0.25667	0.131;0.068	B;B	0.22601	0.027;0.04	T	0.44967	-0.9293	10	0.46703	T	0.11	0.0087	15.3933	0.74767	0.1405:0.8594:0.0:0.0	.	235;312	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	253;253;312;235;253;253;235	ENSP00000385941:A253T;ENSP00000401864:A253T;ENSP00000215812:A312T;ENSP00000385004:A235T;ENSP00000383896:A253T;ENSP00000444691:A253T;ENSP00000439752:A235T	ENSP00000215812:A312T	A	-	1	0	SEC14L3	29187444	0.155000	0.22806	0.003000	0.11579	0.258000	0.26162	3.522000	0.53480	1.310000	0.45006	0.655000	0.94253	GCG	-	superfamily_GOLD,pfscan_GOLD		0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	protein_coding	OTTHUMT00000321950.4	C	NM_174975	-		30857444	-1	no_errors	ENST00000215812	ensembl	human	known	74_37	missense	SNP	0.072	T	T	30857444	C	T	30857444	3	4	42	1	0	0	0	0	1	0	0	0	13991	710	25	2	276	2	SEC14L3	22	30857444	Missense_Mutation	SNP	C	TCGA-DX-A3LW-01A-21D-A21Q-09		30857444	20447122	28	2515											
CAMTA1	23261	genome.wustl.edu	37	chr1	7723936	7723936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatggccacaagttcgcCtttcccaccacgggcagctc	9	16	1	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:7723936C>T	ENST00000303635.7	+	9	1536	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	CAMTA1_ENST00000439411.2_Silent_p.A443A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		ACAAGTTCGCCTTTCCCACCA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								ENSG00000171735						80	79	79					1																	7723936		2203	4300	6503	CAMTA1	SO:0001819	synonymous_variant	0			-	HGNC	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.1329C>T	1.37:g.7723936C>T		Somatic	0	58	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	36	0	0	26	50.94	27	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.A443	ENST00000303635.7	37	c.1329	CCDS30576.1	1																																																																																			-	NULL		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	C	NM_015215	-		7723936	1	no_errors	ENST00000303635	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7723936	C	T	7723936	2	4	43	1	0	0	0	0	0	0	0	1	2615	668	24	2		2	CAMTA1	1	7723936	Silent	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09		7723936	241526685	1	2516											
EIF2C4	192670	genome.wustl.edu	37	chr1	36316471	36316471	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagggaaccagccgtccctCacattaccaggtcttgtggg	11	13	3	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:36316471C>A	ENST00000373210.3	+	17	2539	c.2294C>A	c.(2293-2295)tCa>tAa	p.S765*	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	765	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AGCCGTCCCTCACATTACCAG	0.408																																																	0								ENSG00000134698						106	93	98					1																	36316471		2203	4300	6503	AGO4	SO:0001587	stop_gained	0			-	HGNC	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2294C>A	1.37:g.36316471C>A	ENSP00000362306:p.Ser765*	Somatic	0	53	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7MD27	Nonsense_Mutation	SNP	38	0	0	45	16.67	9	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.S765*	ENST00000373210.3	37	c.2294	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.014058	0.98610	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-9.0679	18.7904	0.91971	0.0:1.0:0.0:0.0	.	.	.	.	X	765	.	ENSP00000362306:S765X	S	+	2	0	EIF2C4	36089058	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.417000	0.82017	0.591000	0.81541	TCA	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.408	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	protein_coding	OTTHUMT00000012213.3	C	NM_017629	-		36316471	1	no_errors	ENST00000373210	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	36316471	C	A	36316471	4	1	43	1	0	0	0	0	0	1	0	0	5010	838	29	3	2360	3	EIF2C4	1	36316471	Nonsense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	28592535	36316471	212934150	2	2517											
EIF2C4	192670	genome.wustl.edu	37	chr1	36316629	36316629	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagcatttagggcaaggtatCatctggtggataaagatcat	11	5	3	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:36316629C>A	ENST00000373210.3	+	17	2697	c.2452C>A	c.(2452-2454)Cat>Aat	p.H818N	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	818	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GGCAAGGTATCATCTGGTGGA	0.413																																																	0								ENSG00000134698						69	63	65					1																	36316629		2203	4300	6503	AGO4	SO:0001583	missense	0			-	HGNC	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2452C>A	1.37:g.36316629C>A	ENSP00000362306:p.His818Asn	Somatic	0	38	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A7MD27	Missense_Mutation	SNP	32	0	0	36	20.00	9	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.H818N	ENST00000373210.3	37	c.2452	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539731	0.85917	.	.	ENSG00000134698	ENST00000373210	T	0.26518	1.73	5.4	5.4	0.78164	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60752	-0.7201	10	0.72032	D	0.01	-18.0048	19.1712	0.93578	0.0:1.0:0.0:0.0	.	818	Q9HCK5	AGO4_HUMAN	N	818	ENSP00000362306:H818N	ENSP00000362306:H818N	H	+	1	0	EIF2C4	36089216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.526000	0.85167	0.591000	0.81541	CAT	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.413	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	protein_coding	OTTHUMT00000012213.3	C	NM_017629	-		36316629	1	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36316629	C	A	36316629	3	1	43	1	0	0	0	0	1	0	0	0	5010	826	29	3	2518	3	EIF2C4	1	36316629	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	158	36316629	212933992	3	2518											
KIAA0754	643314	genome.wustl.edu	37	chr1	39877066	39877066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtggtggaggatggatccGattgcttagctgctgtcttg	15	7	1	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:39877066G>T	ENST00000530275.1	+	1	916	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	241										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATGGATCCGATTGCTTAGC	0.483											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000255103						167	167	167					1																	39877066		2005	4173	6178	KIAA0754	SO:0001583	missense	0			-	HGNC			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.721G>T	1.37:g.39877066G>T	ENSP00000431179:p.Asp241Tyr	Somatic	0	40	0	889	0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	32	0	0	46	0.00	0	NULL	p.D241Y	ENST00000530275.1	37	c.721		1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685854	0.14973	.	.	ENSG00000255103	ENST00000530275	T	0.31510	1.49	4.45	-0.0608	0.13788	.	.	.	.	.	T	0.23649	0.0572	N	0.24115	0.695	0.09310	N	1	P	0.48998	0.918	P	0.48571	0.582	T	0.13818	-1.0495	9	0.87932	D	0	.	5.0057	0.14286	0.3625:0.1443:0.4932:0.0	.	241	O94854	K0754_HUMAN	Y	241	ENSP00000431179:D241Y	ENSP00000431179:D241Y	D	+	1	0	RP4-562N20.1	39649653	0.000000	0.05858	0.000000	0.03702	0.986000	0.74619	-0.189000	0.09629	-0.082000	0.12640	0.655000	0.94253	GAT	-	NULL		0.483	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	protein_coding	OTTHUMT00000392100.1	G	NM_015038	-		39877066	1	no_errors	ENST00000530275	ensembl	human	known	74_37	missense	SNP	0.000	T	T	39877066	G	T	39877066	3	4	43	1	0	0	0	0	1	0	0	0	8194	1058	37	3	1131	3	KIAA0754	1	39877066	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	3560437	39877066	209373555	4	2519											
ST6GALNAC3	256435	genome.wustl.edu	37	chr1	76877795	76877795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgatcctcctgcatttggAgaatgaacaatgcccccacc	7	14	0	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:76877795A>G	ENST00000328299.3	+	3	464	c.316A>G	c.(316-318)Aga>Gga	p.R106G	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	106					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTGCATTTGGAGAATGAACAA	0.468																																																	0								ENSG00000184005						124	110	115					1																	76877795		2203	4300	6503	ST6GALNAC3	SO:0001583	missense	0			-	HGNC		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.316A>G	1.37:g.76877795A>G	ENSP00000329214:p.Arg106Gly	Somatic	0	51	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	44	44.30	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	29	0	0	36	38.98	23	pfam_Glyco_trans_29	p.R106G	ENST00000328299.3	37	c.316	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281915	0.80692	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.68624	-0.34	6.17	6.17	0.99709	.	0.106967	0.64402	D	0.000002	D	0.84469	0.5479	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.88532	0.3103	10	0.87932	D	0	-8.5966	16.0034	0.80327	1.0:0.0:0.0:0.0	.	41;106;106	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	G	106;106;105;40	ENSP00000329214:R106G	ENSP00000329214:R106G	R	+	1	2	ST6GALNAC3	76650383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.392000	0.59659	2.371000	0.80710	0.533000	0.62120	AGA	-	pfam_Glyco_trans_29		0.468	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	protein_coding	OTTHUMT00000026501.1	A	NM_152996	-		76877795	1	no_errors	ENST00000328299	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76877795	A	G	76877795	3	3	43	1	0	0	0	0	1	0	0	0	15232	296	11	5	326	5	ST6GALNAC3	1	76877795	Missense_Mutation	SNP	A	TCGA-DX-A3LY-01B-11D-A27P-09	37000729	76877795	172372826	5	2520											
C1orf9	51430	genome.wustl.edu	37	chr1	172547522	172547522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggaactatttgatgaGgactatggtaagtgacatca	11	7	1	3	rs12033849	byFrequency	TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:172547522G>T	ENST00000263688.3	+	14	1644	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D	SUCO_ENST00000367723.4_Missense_Mutation_p.E626D|SUCO_ENST00000608151.1_Missense_Mutation_p.E627D|SUCO_ENST00000610051.1_Missense_Mutation_p.E438D	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	475					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TATTTGATGAGGACTATGGTA	0.343																																																	0								ENSG00000094975						119	110	113					1																	172547522		2203	4300	6503	SUCO	SO:0001583	missense	0			-	HGNC	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1425G>T	1.37:g.172547522G>T	ENSP00000263688:p.Glu475Asp	Somatic	0	43	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	41	0	0	58	0.00	0	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E627D	ENST00000263688.3	37	c.1881	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056448	0.55325	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.22	4.31	0.51392	.	0.048575	0.85682	D	0.000000	T	0.18509	0.0444	N	0.14661	0.345	0.54753	D	0.999983	P;B;P;P	0.46220	0.615;0.131;0.714;0.874	B;B;B;P	0.45794	0.142;0.082;0.376;0.493	T	0.04140	-1.0974	9	0.39692	T	0.17	-12.1535	7.2031	0.25891	0.261:0.0:0.739:0.0	.	438;475;627;475	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	D	627;475	.	ENSP00000263688:E475D	E	+	3	2	C1orf9	170814145	0.797000	0.28877	1.000000	0.80357	0.985000	0.73830	-0.026000	0.12392	1.203000	0.43233	0.563000	0.77884	GAG	-	NULL		0.343	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	protein_coding	OTTHUMT00000084273.1	G	NM_016227	-		172547522	1	no_errors	ENST00000608151	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172547522	G	T	172547522	3	4	43	1	0	0	0	0	1	0	0	0	2069	991	35	3	1479	3	C1orf9	1	172547522	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	95669727	172547522	76703099	6	2521											
PAPPA2	60676	genome.wustl.edu	37	chr1	176525573	176525573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccttggttgagagggaaCacctgaatcaggtgctgttg	13	7	1	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:176525573C>A	ENST00000367662.3	+	2	1279	c.115C>A	c.(115-117)Cac>Aac	p.H39N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.H39N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	39					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)			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						TGAGAGGGAACACCTGAATCA	0.542																																																	0								ENSG00000116183						92	92	92					1																	176525573		2010	4188	6198	PAPPA2	SO:0001583	missense	0			-	HGNC	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.115C>A	1.37:g.176525573C>A	ENSP00000356634:p.His39Asn	Somatic	0	67	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	86	13.13	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	24	0	0	63	13.70	10	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.H39N	ENST00000367662.3	37	c.115	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499355	0.26861	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32023	4.74;1.47	4.82	2.89	0.33648	.	0.478571	0.18015	U	0.154422	T	0.28896	0.0717	M	0.65975	2.015	0.09310	N	1	B;B	0.29432	0.067;0.244	B;B	0.27500	0.012;0.08	T	0.28933	-1.0028	10	0.72032	D	0.01	-1.1232	5.8938	0.18927	0.1886:0.7113:0.0:0.1001	.	39;39	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	39	ENSP00000356634:H39N;ENSP00000356633:H39N	ENSP00000356633:H39N	H	+	1	0	PAPPA2	174792196	0.006000	0.16342	0.042000	0.18584	0.969000	0.65631	0.561000	0.23515	0.427000	0.26145	0.561000	0.74099	CAC	-	NULL		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	C		-		176525573	1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	SNP	0.045	A	A	176525573	C	A	176525573	3	1	43	1	0	0	0	0	1	0	0	0	11435	478	17	3	117	3	PAPPA2	1	176525573	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	3978051	176525573	72725048	7	2522											
FAM5C	339479	genome.wustl.edu	37	chr1	190067649	190067649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgcaggggtaggtccaaCttagtccgctcccagtctgg	12	13	1	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:190067649C>A	ENST00000367462.3	-	8	2031	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	BRINP3_ENST00000534846.1_Missense_Mutation_p.K498N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	600					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.K600N(1)									GTAGGTCCAACTTAGTCCGCT	0.468																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000162670						208	215	213					1																	190067649		2203	4300	6503	BRINP3	SO:0001583	missense	0			-	HGNC	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.1800G>T	1.37:g.190067649C>A	ENSP00000356432:p.Lys600Asn	Somatic	0	47	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	33	0	0	73	14.12	12	pfam_MACPF,smart_MACPF	p.K600N	ENST00000367462.3	37	c.1800	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	5.259	0.233219	0.09969	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18810	2.45;2.19	5.61	2.71	0.32032	.	0.157466	0.56097	D	0.000035	T	0.10078	0.0247	N	0.16656	0.425	0.44570	D	0.997539	B;P	0.34522	0.081;0.455	B;B	0.29440	0.065;0.102	T	0.23976	-1.0173	10	0.15066	T	0.55	.	9.5676	0.39409	0.0:0.7735:0.0:0.2265	.	498;600	B7Z260;Q76B58	.;FAM5C_HUMAN	N	600;498	ENSP00000356432:K600N;ENSP00000438022:K498N	ENSP00000356432:K600N	K	-	3	2	FAM5C	188334272	0.208000	0.23494	0.875000	0.34327	0.993000	0.82548	-0.078000	0.11375	0.308000	0.22923	0.585000	0.79938	AAG	-	NULL		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	protein_coding	OTTHUMT00000086278.1	C	NM_199051	-		190067649	-1	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	SNP	0.998	A	A	190067649	C	A	190067649	3	1	43	1	0	0	0	0	1	0	0	0	5596	564	20	3	504	3	FAM5C	1	190067649	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	13542076	190067649	59182972	8	2523											
FAM36A	116228	genome.wustl.edu	37	chr1	245005524	245005524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagaagatcatgtgatgttgGagtaggagggtttatcttgg	15	2	2	3			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr1:245005524G>C	ENST00000411948.2	+	3	578	c.185G>C	c.(184-186)gGa>gCa	p.G62A	COX20_ENST00000366528.3_Missense_Mutation_p.G74A|COX20_ENST00000498262.1_3'UTR|HNRNPU-AS1_ENST00000475997.1_RNA	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	62						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TGTGATGTTGGAGTAGGAGGG	0.303																																																	0								ENSG00000203667						161	148	152					1																	245005524		2203	4300	6503	COX20	SO:0001583	missense	0			-	HGNC	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.185G>C	1.37:g.245005524G>C	ENSP00000406327:p.Gly62Ala	Somatic	0	45	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q8WV86	Missense_Mutation	SNP	35	0	0	44	13.73	7	pfam_Cox20/FAM36A,prints_FAM36A	p.G62A	ENST00000411948.2	37	c.185	CCDS31080.1	1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632430	0.46944	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.86	3.85	0.44370	.	0.218255	0.46442	N	0.000281	T	0.37293	0.0998	N	0.05078	-0.115	0.44485	D	0.997428	B	0.09022	0.002	B	0.12837	0.008	T	0.11991	-1.0565	9	0.19590	T	0.45	-13.8475	17.8466	0.88732	0.0:0.3386:0.6613:0.0	.	62	Q5RI15	FA36A_HUMAN	A	62;74	.	ENSP00000355486:G74A	G	+	2	0	FAM36A	243072147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.672000	0.37523	1.465000	0.48006	0.585000	0.79938	GGA	-	pfam_Cox20/FAM36A,prints_FAM36A		0.303	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	protein_coding	OTTHUMT00000097174.1	G	NM_198076	-		245005524	1	no_errors	ENST00000411948	ensembl	human	known	74_37	missense	SNP	1.000	C	C	245005524	G	C	245005524	3	2	43	1	0	0	0	0	1	0	0	0	5556	1174	41	4	195	4	FAM36A	1	245005524	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	54937875	245005524	4245097	9	2524											
ASAP2	8853	genome.wustl.edu	37	chr2	9496213	9496213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagctgaagatgaacaGgaatgtcaaatgtaagttac	9	5	2	3			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:9496213G>A	ENST00000281419.3	+	13	1489	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	ASAP2_ENST00000315273.4_Silent_p.Q383Q	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	383	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGATGAACAGGAATGTCAAA	0.423																																																	0								ENSG00000151693						200	189	193					2																	9496213		2203	4300	6503	ASAP2	SO:0001819	synonymous_variant	0			-	HGNC	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1149G>A	2.37:g.9496213G>A		Somatic	0	63	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	D6W4Y8	Silent	SNP	35	0	0	45	19.64	11	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.Q383	ENST00000281419.3	37	c.1149	CCDS1661.1	2																																																																																			-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.423	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	protein_coding	OTTHUMT00000237522.1	G	NM_003887	-		9496213	1	no_errors	ENST00000281419	ensembl	human	known	74_37	silent	SNP	1.000	A	A	9496213	G	A	9496213	2	1	43	1	0	0	0	0	0	0	0	1	1011	991	35	2		2	ASAP2	2	9496213	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09		9496213	233703160	10	2525											
SNX17	9784	genome.wustl.edu	37	chr2	27599044	27599044	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaaatctggcggcagtatCaggaaggtaggcagcaagtg	15	6	2	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:27599044C>T	ENST00000233575.2	+	12	1398	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Silent_p.I178I|SNX17_ENST00000537606.1_Silent_p.I367I|SNX17_ENST00000542478.1_Silent_p.I178I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	392	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGCAGTATCAGGAAGGTAG	0.517																																																	0								ENSG00000115234						131	123	126					2																	27599044		2203	4300	6503	SNX17	SO:0001819	synonymous_variant	0			-	HGNC	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1176C>T	2.37:g.27599044C>T		Somatic	0	28	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	29	0	0	42	26.32	15	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.I392	ENST00000233575.2	37	c.1176	CCDS1750.1	2																																																																																			-	NULL		0.517	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	protein_coding	OTTHUMT00000215024.1	C	NM_014748	-		27599044	1	no_errors	ENST00000233575	ensembl	human	known	74_37	silent	SNP	1.000	T	T	27599044	C	T	27599044	2	4	43	1	0	0	0	0	0	0	0	1	14896	816	29	2		2	SNX17	2	27599044	Silent	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	18102831	27599044	215600329	11	2526											
SNX17	9784	genome.wustl.edu	37	chr2	27599243	27599243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaagcagtgaagtccCcaccactgcttgtaagtatt	9	12	0	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:27599243C>T	ENST00000233575.2	+	13	1468	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.P202S|SNX17_ENST00000537606.1_Missense_Mutation_p.P391S|SNX17_ENST00000542478.1_Missense_Mutation_p.P202S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	416	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGAAGTCCCCACCACTGCT	0.602																																																	0								ENSG00000115234						82	83	83					2																	27599243		2203	4300	6503	SNX17	SO:0001583	missense	0			-	HGNC	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1246C>T	2.37:g.27599243C>T	ENSP00000233575:p.Pro416Ser	Somatic	0	32	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	26	0	0	45	29.69	19	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.P416S	ENST00000233575.2	37	c.1246	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007174	0.19199	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.26518	2.15;1.73;1.73;1.73	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.27053	0.805	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.001	D;D;D;B	0.79108	0.992;0.992;0.992;0.001	T	0.01688	-1.1295	10	0.02654	T	1	-8.7064	17.8169	0.88637	0.0:1.0:0.0:0.0	.	391;404;396;416	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	S	416;202;391;202	ENSP00000233575:P416S;ENSP00000441779:P202S;ENSP00000439208:P391S;ENSP00000442567:P202S	ENSP00000233575:P416S	P	+	1	0	SNX17	27452747	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.343000	0.65976	2.797000	0.96272	0.561000	0.74099	CCA	-	NULL		0.602	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	protein_coding	OTTHUMT00000215024.1	C	NM_014748	-		27599243	1	no_errors	ENST00000233575	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27599243	C	T	27599243	3	4	43	1	0	0	0	0	1	0	0	0	14896	623	22	2	1296	2	SNX17	2	27599243	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	199	27599243	215600130	12	2527											
RNF181	51255	genome.wustl.edu	37	chr2	85824248	85824248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattcctgtcccttgtgcCgctatgagctgcccactgat	8	14	0	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:85824248C>T	ENST00000306368.4	+	4	379	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	RNF181_ENST00000441634.1_Missense_Mutation_p.R117C	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	117					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TCCCTTGTGCCGCTATGAGCT	0.517																																																	0								ENSG00000168894						151	153	152					2																	85824248		2203	4300	6503	RNF181	SO:0001583	missense	0			-	HGNC	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.349C>T	2.37:g.85824248C>T	ENSP00000306906:p.Arg117Cys	Somatic	0	30	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	Q53H81	Missense_Mutation	SNP	34	0	0	54	1.82	1	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R117C	ENST00000306368.4	37	c.349	CCDS1981.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938529	0.73557	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000456023	T;T	0.61158	0.13;0.13	5.39	4.42	0.53409	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, RING-H2-type (1);	0.063724	0.64402	D	0.000008	T	0.81574	0.4851	H	0.96048	3.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	D	0.86411	0.1748	10	0.87932	D	0	.	12.1264	0.53919	0.2472:0.7527:0.0:0.0	.	117	Q9P0P0	RN181_HUMAN	C	117;117;113	ENSP00000412025:R117C;ENSP00000306906:R117C	ENSP00000306906:R117C	R	+	1	0	RNF181	85677759	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.983000	0.56916	2.509000	0.84616	0.561000	0.74099	CGC	-	pfscan_Znf_RING		0.517	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF181	protein_coding	OTTHUMT00000252500.1	C	NM_016494	-		85824248	1	no_errors	ENST00000306368	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85824248	C	T	85824248	3	4	43	1	0	0	0	0	1	0	0	0	13473	652	23	1	363	1	RNF181	2	85824248	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	58225005	85824248	157375125	13	2528											
KRCC1	51315	genome.wustl.edu	37	chr2	88327569	88327569	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcttagaccgctcctcctCtgatttttctctgccttcct	5	15	2	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:88327569C>A	ENST00000347055.3	-	4	907	c.514G>T	c.(514-516)Gag>Tag	p.E172*		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	172	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CGCTCCTCCTCTGATTTTTCT	0.428																																																	0								ENSG00000172086						120	121	120					2																	88327569		2203	4300	6503	KRCC1	SO:0001587	stop_gained	0			-	HGNC	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.514G>T	2.37:g.88327569C>A	ENSP00000340083:p.Glu172*	Somatic	0	48	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q3B7J7	Nonsense_Mutation	SNP	28	0	0	43	23.21	13	NULL	p.E172*	ENST00000347055.3	37	c.514	CCDS2000.1	2	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292809	0.60086	.	.	ENSG00000172086	ENST00000347055	.	.	.	5.61	-2.39	0.06602	.	0.828207	0.10740	N	0.639625	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.5492	11.1046	0.48194	0.0:0.3505:0.0:0.6495	.	.	.	.	X	172	.	ENSP00000340083:E172X	E	-	1	0	KRCC1	88108684	0.006000	0.16342	0.003000	0.11579	0.200000	0.23975	-0.106000	0.10890	-0.316000	0.08690	-0.355000	0.07637	GAG	-	NULL		0.428	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRCC1	protein_coding	OTTHUMT00000252664.1	C	NM_016618	-		88327569	-1	no_errors	ENST00000347055	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	88327569	C	A	88327569	4	1	43	1	0	0	0	0	0	1	0	0	8443	922	32	3	269	3	KRCC1	2	88327569	Nonsense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	2503321	88327569	154871804	14	2529											
LCT	3938	genome.wustl.edu	37	chr2	136575110	136575110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaccatgatcctgcaggGcctgaggcaggtcccagtgg	13	13	0	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:136575110G>A	ENST00000264162.2	-	6	1518	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	503	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATCCTGCAGGGCCTGAGGCAG	0.592																																																	0								ENSG00000115850						90	78	82					2																	136575110		2203	4300	6503	LCT	SO:0001583	missense	0			-	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1508C>T	2.37:g.136575110G>A	ENSP00000264162:p.Ala503Val	Somatic	0	39	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	56	15.15	Q4ZG58	Missense_Mutation	SNP	31	0	0	35	10.26	4	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A503V	ENST00000264162.2	37	c.1508	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258581	0.80246	.	.	ENSG00000115850	ENST00000264162	T	0.53423	0.62	5.64	4.76	0.60689	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.163053	0.53938	D	0.000052	T	0.66396	0.2785	M	0.74467	2.265	0.52501	D	0.99995	D	0.67145	0.996	D	0.63957	0.92	T	0.67177	-0.5736	10	0.33940	T	0.23	-12.05	16.9502	0.86243	0.0:0.1279:0.8721:0.0	.	503	P09848	LPH_HUMAN	V	503	ENSP00000264162:A503V	ENSP00000264162:A503V	A	-	2	0	LCT	136291580	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.436000	0.52856	1.507000	0.48752	0.561000	0.74099	GCC	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.592	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	G	NM_002299	-		136575110	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136575110	G	A	136575110	3	1	43	1	0	0	0	0	1	0	0	0	8695	1203	42	2	4323	2	LCT	2	136575110	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	48247541	136575110	106624263	15	2530											
XIRP2	129446	genome.wustl.edu	37	chr2	167760312	167760312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcagtcggcgcaggaTtgaacgcttttccattgccc	11	13	0	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:167760312T>C	ENST00000409728.1	+	2	409	c.320T>C	c.(319-321)aTt>aCt	p.I107T	XIRP2_ENST00000420519.1_Missense_Mutation_p.I107T|XIRP2_ENST00000409195.1_Missense_Mutation_p.I107T|XIRP2_ENST00000409043.1_Missense_Mutation_p.I107T|XIRP2_ENST00000409756.2_Missense_Mutation_p.I107T|XIRP2_ENST00000295237.9_Missense_Mutation_p.I107T	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						CGGCGCAGGATTGAACGCTTT	0.512																																																	0								ENSG00000163092						123	125	124					2																	167760312		2025	4164	6189	XIRP2	SO:0001583	missense	0			-	HGNC	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	ENST00000409728.1:c.320T>C	2.37:g.167760312T>C	ENSP00000386619:p.Ile107Thr	Somatic	0	68	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	24	0	0	35	27.08	13	pfam_Actin-binding_Xin_repeat	p.I107T	ENST00000409728.1	37	c.320	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395624	0.42512	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.86164	-2.07;-2.08;3.3;-2.07;-2.08;3.3	5.12	3.95	0.45737	.	.	.	.	.	T	0.78817	0.4343	.	.	.	0.27938	N	0.937636	B;B	0.30709	0.291;0.291	B;B	0.29598	0.104;0.104	T	0.66854	-0.5818	8	0.30078	T	0.28	-5.1548	7.6888	0.28557	0.0:0.0972:0.0:0.9028	.	107;107	A4UGR9-4;A4UGR9-6	.;.	T	107	ENSP00000386454:I107T;ENSP00000386619:I107T;ENSP00000386840:I107T;ENSP00000386724:I107T;ENSP00000415541:I107T;ENSP00000295237:I107T	ENSP00000295237:I107T	I	+	2	0	XIRP2	167468558	0.996000	0.38824	0.771000	0.31576	0.384000	0.30261	3.854000	0.55949	0.796000	0.33947	0.533000	0.62120	ATT	-	NULL		0.512	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333552.1	T	NM_152381	-		167760312	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.942	C	C	167760312	T	C	167760312	3	2	43	1	0	0	0	0	1	0	0	0	17437	1493	52	5	322	5	XIRP2	2	167760312	Missense_Mutation	SNP	T	TCGA-DX-A3LY-01B-11D-A27P-09	31185202	167760312	75439061	16	2531											
CWC22	57703	genome.wustl.edu	37	chr2	180819049	180819049	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttgaatataccttcaaaGgattccatgtactctttctt	4	9	4	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:180819049G>T	ENST00000410053.3	-	16	1871	c.1572C>A	c.(1570-1572)tcC>tcA	p.S524S	CWC22_ENST00000295749.6_Silent_p.S524S	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	524	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TACCTTCAAAGGATTCCATGT	0.308																																																	0								ENSG00000163510						109	100	102					2																	180819049		1836	4081	5917	CWC22	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1572C>A	2.37:g.180819049G>T		Somatic	0	40	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	40	0	0	63	0.00	0	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.S524	ENST00000410053.3	37	c.1572	CCDS46465.1	2																																																																																			-	pfam_Initiation_fac_eIF4g_MI,smart_Initiation_fac_eIF4g_MI		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	protein_coding	OTTHUMT00000334537.1	G	NM_020943	-		180819049	-1	no_errors	ENST00000295749	ensembl	human	known	74_37	silent	SNP	0.886	T	T	180819049	G	T	180819049	2	4	43	1	0	0	0	0	0	0	0	1	4070	987	35	3		3	CWC22	2	180819049	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	13058737	180819049	62380324	17	2532											
LRRFIP1	9208	genome.wustl.edu	37	chr2	238667417	238667417	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgattccgtaaggagtgaaCgggatgatcttagagaagaa	13	4	1	5			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr2:238667417C>G	ENST00000392000.4	+	10	864				LRRFIP1_ENST00000308482.9_Missense_Mutation_p.R424G|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						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)		AAGGAGTGAACGGGATGATCT	0.383																																																	0								ENSG00000124831						153	145	147					2																	238667417		1568	3582	5150	LRRFIP1	SO:0001627	intron_variant	0			-	HGNC	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.748-1290C>G	2.37:g.238667417C>G		Somatic	0	46	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	45	0	0	50	28.57	20	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin	p.R424G	ENST00000392000.4	37	c.1270	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756057	0.69648	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.41758	0.99	5.62	5.62	0.85841	.	.	.	.	.	T	0.66147	0.2760	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62709	-0.6797	9	0.38643	T	0.18	.	19.0125	0.92879	0.0:1.0:0.0:0.0	.	424	E9PGZ2	.	G	424;414	ENSP00000310109:R424G	ENSP00000310109:R424G	R	+	1	2	LRRFIP1	238332156	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.837000	0.48191	2.804000	0.96469	0.655000	0.94253	CGG	-	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin		0.383	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	protein_coding	OTTHUMT00000317198.1	C	NM_004735	-		238667417	1	no_errors	ENST00000308482	ensembl	human	putative	74_37	missense	SNP	1.000	G	G	238667417	C	G	238667417	1	3	43	0	1	0	0	0	0	0	0	0	9029	527	19	4		4	LRRFIP1	2	238667417	Intron	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	57848368	238667417	4531956	18	2533											
EMCN	51705	genome.wustl.edu	37	chr4	101368702	101368702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcttacctggtatttctgTtgttttaattgaactctgag	9	6	2	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr4:101368702T>C	ENST00000296420.4	-	5	581	c.403A>G	c.(403-405)Aca>Gca	p.T135A	EMCN_ENST00000511970.1_Intron|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.T135A	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	135	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GGTATTTCTGTTGTTTTAATT	0.308																																																	0								ENSG00000164035						88	95	93					4																	101368702		2201	4299	6500	EMCN	SO:0001583	missense	0			-	HGNC	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.403A>G	4.37:g.101368702T>C	ENSP00000296420:p.Thr135Ala	Somatic	0	40	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	47	0	0	43	31.25	20	pfam_Endomucin	p.T135A	ENST00000296420.4	37	c.403	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	t	12.66	2.005652	0.35415	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000506300;ENST00000502569	.	.	.	4.43	1.89	0.25635	.	0.399441	0.18491	N	0.139621	T	0.17195	0.0413	N	0.24115	0.695	0.09310	N	1	P;B	0.40909	0.732;0.35	B;B	0.38264	0.269;0.187	T	0.10613	-1.0622	9	0.62326	D	0.03	-4.8823	4.3427	0.11117	0.0:0.104:0.2035:0.6925	.	135;135	Q9ULC0-2;Q9ULC0	.;MUCEN_HUMAN	A	135;135;62;135	.	ENSP00000296420:T135A	T	-	1	0	EMCN	101587725	0.039000	0.19947	0.001000	0.08648	0.013000	0.08279	-0.269000	0.08596	0.422000	0.26005	0.533000	0.62120	ACA	-	pfam_Endomucin		0.308	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	protein_coding	OTTHUMT00000253699.2	T	NM_016242	-		101368702	-1	no_errors	ENST00000296420	ensembl	human	known	74_37	missense	SNP	0.001	C	C	101368702	T	C	101368702	3	2	43	1	0	0	0	0	1	0	0	0	5088	1725	60	5	410	5	EMCN	4	101368702	Missense_Mutation	SNP	T	TCGA-DX-A3LY-01B-11D-A27P-09		101368702	89785574	19	2534											
TET2	54790	genome.wustl.edu	37	chr4	106158294	106158294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagggccagtcacagttttGactagacaaaccactgctgc	9	12	2	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr4:106158294G>T	ENST00000540549.1	+	3	4055	c.3195G>T	c.(3193-3195)ttG>ttT	p.L1065F	TET2_ENST00000413648.2_Missense_Mutation_p.L1065F|TET2_ENST00000380013.4_Missense_Mutation_p.L1065F|TET2_ENST00000394764.1_Missense_Mutation_p.L1065F|TET2_ENST00000545826.1_Missense_Mutation_p.L1065F|TET2_ENST00000513237.1_Missense_Mutation_p.L1086F|TET2_ENST00000305737.2_Missense_Mutation_p.L1065F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1065					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)		TCACAGTTTTGACTAGACAAA	0.433			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0								ENSG00000168769						80	78	79					4																	106158294		2203	4300	6503	TET2	SO:0001583	missense	0			-	HGNC	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.3195G>T	4.37:g.106158294G>T	ENSP00000442788:p.Leu1065Phe	Somatic	0	19	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	29	0	0	43	21.82	12	NULL	p.L1065F	ENST00000540549.1	37	c.3195	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132814	0.37630	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.21932	1.98;1.98;2.5;1.98;1.98;1.98;1.98	5.14	1.44	0.22558	.	1.334490	0.05696	N	0.593216	T	0.40570	0.1122	L	0.49778	1.585	0.21184	N	0.999763	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.981;0.981;0.996	T	0.23190	-1.0195	10	0.72032	D	0.01	.	8.5495	0.33442	0.6877:0.0:0.3123:0.0	.	1086;1065;1065	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	F	1065;1065;1065;1086;1065;1065;1065	ENSP00000306705:L1065F;ENSP00000442788:L1065F;ENSP00000442867:L1065F;ENSP00000425443:L1086F;ENSP00000369351:L1065F;ENSP00000378245:L1065F;ENSP00000391448:L1065F	ENSP00000265149:L1065F	L	+	3	2	TET2	106377743	0.022000	0.18835	0.012000	0.15200	0.944000	0.59088	-0.287000	0.08388	0.022000	0.15160	-0.302000	0.09304	TTG	-	NULL		0.433	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	G	NM_017628	-		106158294	1	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	SNP	0.233	T	T	106158294	G	T	106158294	3	4	43	1	0	0	0	0	1	0	0	0	15777	1281	45	3	3197	3	TET2	4	106158294	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	4789592	106158294	84995982	20	2535											
TKTL2	84076	genome.wustl.edu	37	chr4	164393216	164393216	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccactgtgataactcggccGcctgtggcttttgcactgga	11	12	0	1	rs201861103		TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr4:164393216G>T	ENST00000280605.3	-	1	1831	c.1671C>A	c.(1669-1671)ggC>ggA	p.G557G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	557						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAACTCGGCCGCCTGTGGCTT	0.507																																																	0								ENSG00000151005						107	101	103					4																	164393216		2203	4300	6503	TKTL2	SO:0001819	synonymous_variant	0			-	HGNC	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1671C>A	4.37:g.164393216G>T		Somatic	0	55	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	39	49.35	A4FVB4|Q8NCT0|Q96M82	Silent	SNP	34	0	0	24	63.64	42	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.G557	ENST00000280605.3	37	c.1671	CCDS3805.1	4																																																																																			-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.507	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	G	NM_032136	-		164393216	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	silent	SNP	0.470	T	T	164393216	G	T	164393216	2	4	43	1	0	0	0	0	0	0	0	1	15943	1074	38	3		3	TKTL2	4	164393216	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	58234922	164393216	26761060	21	2536											
MTMR12	54545	genome.wustl.edu	37	chr5	32248179	32248179	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggaagttgcttgacAggtcttccgttttaacaatt	11	7	1	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr5:32248179A>T	ENST00000382142.3	-	10	1120	c.950T>A	c.(949-951)cTg>cAg	p.L317Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.L317Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.L317Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	317	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGCTTGACAGGTCTTCCGT	0.373																																																	0								ENSG00000150712						129	122	124					5																	32248179		2203	4300	6503	MTMR12	SO:0001583	missense	0			-	HGNC	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.950T>A	5.37:g.32248179A>T	ENSP00000371577:p.Leu317Gln	Somatic	0	38	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	24	58.62	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	43	0	0	41	57.29	55	pfam_Myotubularin_assoc	p.L317Q	ENST00000382142.3	37	c.950	CCDS34138.1	5	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540928	0.65085	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90620	-2.7;-2.7;-2.7	5.46	4.31	0.51392	Myotubularin phosphatase domain (1);	3.019940	0.01217	N	0.007990	D	0.95837	0.8645	M	0.78637	2.42	0.47698	D	0.999492	P;D;D	0.89917	0.731;1.0;1.0	P;D;D	0.91635	0.549;0.999;0.998	D	0.83663	0.0162	10	0.66056	D	0.02	.	10.9236	0.47180	0.9261:0.0:0.0739:0.0	.	317;317;317	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	Q	317	ENSP00000280285:L317Q;ENSP00000371577:L317Q;ENSP00000264934:L317Q	ENSP00000264934:L317Q	L	-	2	0	MTMR12	32283936	0.997000	0.39634	0.429000	0.26710	0.979000	0.70002	3.939000	0.56591	1.023000	0.39654	0.533000	0.62120	CTG	-	NULL		0.373	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	protein_coding	OTTHUMT00000366579.1	A	NM_019061	-		32248179	-1	no_errors	ENST00000382142	ensembl	human	known	74_37	missense	SNP	0.781	T	T	32248179	A	T	32248179	3	4	43	1	0	0	0	0	1	0	0	0	9943	188	7	5	1321	5	MTMR12	5	32248179	Missense_Mutation	SNP	A	TCGA-DX-A3LY-01B-11D-A27P-09		32248179	148667081	22	2537											
EGR1	1958	genome.wustl.edu	37	chr5	137801710	137801710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcaccttcaAccctcaggcggacacgggcg	12	16	2	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr5:137801710A>C	ENST00000239938.4	+	1	532	c.260A>C	c.(259-261)aAc>aCc	p.N87T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	87					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			agcaCCTTCAACCCTCAGGCG	0.706																																																	0								ENSG00000120738						12	11	11					5																	137801710		2129	4186	6315	EGR1	SO:0001583	missense	0			-	HGNC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.260A>C	5.37:g.137801710A>C	ENSP00000239938:p.Asn87Thr	Somatic	0	45	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92		Missense_Mutation	SNP	31	0	0	39	35.00	21	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N87T	ENST00000239938.4	37	c.260	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	A	10.71	1.427928	0.25726	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.08282	3.11	5.16	5.16	0.70880	.	0.191643	0.37715	N	0.001970	T	0.05823	0.0152	L	0.36672	1.1	0.26020	N	0.981888	P;B	0.39480	0.675;0.16	B;B	0.28553	0.091;0.066	T	0.38090	-0.9677	10	0.20519	T	0.43	-29.4828	11.3074	0.49342	1.0:0.0:0.0:0.0	.	87;87	B4DNX4;P18146	.;EGR1_HUMAN	T	87	ENSP00000239938:N87T	ENSP00000239938:N87T	N	+	2	0	EGR1	137829609	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	4.137000	0.58010	2.171000	0.68590	0.459000	0.35465	AAC	-	NULL		0.706	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	protein_coding	OTTHUMT00000251274.1	A	NM_001964	-		137801710	1	no_errors	ENST00000239938	ensembl	human	known	74_37	missense	SNP	0.997	C	C	137801710	A	C	137801710	3	2	43	1	0	0	0	0	1	0	0	0	4973	43	2	5	262	5	EGR1	5	137801710	Missense_Mutation	SNP	A	TCGA-DX-A3LY-01B-11D-A27P-09	105553531	137801710	43113550	23	2538											
MAML1	9794	genome.wustl.edu	37	chr5	179195930	179195930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccgtgtccgtggccaGctcccacaacagctccccct	9	20	0	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr5:179195930G>A	ENST00000292599.3	+	3	2074	c.1811G>A	c.(1810-1812)aGc>aAc	p.S604N	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGTGGCCAGCTCCCACAAC	0.587																																																	0								ENSG00000161021						111	123	119					5																	179195930		2203	4300	6503	MAML1	SO:0001583	missense	0			-	HGNC	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1811G>A	5.37:g.179195930G>A	ENSP00000292599:p.Ser604Asn	Somatic	0	38	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	179	23.50		Missense_Mutation	SNP	30	0	0	228	21.38	62	pfam_Neuroggenic_mastermind-like_N	p.S604N	ENST00000292599.3	37	c.1811	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087865	0.36855	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.49432	0.78	4.59	0.554	0.17241	.	0.442996	0.23754	N	0.044888	T	0.30448	0.0765	L	0.37561	1.115	0.26025	N	0.981812	B;B	0.19445	0.022;0.036	B;B	0.15052	0.004;0.012	T	0.16276	-1.0408	10	0.18710	T	0.47	-10.2703	7.6947	0.28587	0.1317:0.2568:0.6115:0.0	.	641;604	Q59GH4;Q92585	.;MAML1_HUMAN	N	604;641	ENSP00000292599:S604N	ENSP00000292599:S604N	S	+	2	0	MAML1	179128536	1.000000	0.71417	0.967000	0.41034	0.967000	0.64934	1.478000	0.35442	0.342000	0.23796	-0.467000	0.05162	AGC	-	NULL		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	protein_coding	OTTHUMT00000372316.2	G	NM_014757	-		179195930	1	no_errors	ENST00000292599	ensembl	human	known	74_37	missense	SNP	0.998	A	A	179195930	G	A	179195930	3	1	43	1	0	0	0	0	1	0	0	0	9207	971	34	2	1821	2	MAML1	5	179195930	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	41394220	179195930	1719330	24	2539			1	32		3	3	143	G		3.275434e-08
MAML1	9794	genome.wustl.edu	37	chr5	179196021	179196021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaccaacagaaacaaagGgagcagcagcaaaagcattt	10	8	0	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr5:179196021G>A	ENST00000292599.3	+	3	2165	c.1902G>A	c.(1900-1902)agG>agA	p.R634R	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAACAAAGGGAGCAGCAGC	0.522																																																	0								ENSG00000161021						96	92	93					5																	179196021		2203	4300	6503	MAML1	SO:0001819	synonymous_variant	0			-	HGNC	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1902G>A	5.37:g.179196021G>A		Somatic	0	27	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	128	18.99		Silent	SNP	30	0	0	242	23.51	75	pfam_Neuroggenic_mastermind-like_N	p.R634	ENST00000292599.3	37	c.1902	CCDS34315.1	5																																																																																			-	NULL		0.522	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	protein_coding	OTTHUMT00000372316.2	G	NM_014757	-		179196021	1	no_errors	ENST00000292599	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179196021	G	A	179196021	2	1	43	1	0	0	0	0	0	0	0	1	9207	1223	43	2		2	MAML1	5	179196021	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	91	179196021	1719239	25	2540			1	32		3	3	143	G		3.275434e-08
MAML1	9794	genome.wustl.edu	37	chr5	179196072	179196072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttccttcagaggcaacaGcaccttctcgcggaacaggt	10	13	2	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr5:179196072G>A	ENST00000292599.3	+	3	2216	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGCAACAGCACCTTCTCG	0.502																																																	0								ENSG00000161021						72	67	69					5																	179196072		2203	4300	6503	MAML1	SO:0001819	synonymous_variant	0			-	HGNC	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1953G>A	5.37:g.179196072G>A		Somatic	0	20	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	102	17.74		Silent	SNP	30	0	0	252	20.19	64	pfam_Neuroggenic_mastermind-like_N	p.Q651	ENST00000292599.3	37	c.1953	CCDS34315.1	5																																																																																			-	NULL		0.502	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	protein_coding	OTTHUMT00000372316.2	G	NM_014757	-		179196072	1	no_errors	ENST00000292599	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179196072	G	A	179196072	2	1	43	1	0	0	0	0	0	0	0	1	9207	962	34	2		2	MAML1	5	179196072	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	51	179196072	1719188	26	2541			1	32		3	3	143	G		3.275434e-08
ASCC3	10973	genome.wustl.edu	37	chr6	101247339	101247339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaatgctgatgttttcaTggcttcagcctgggaatcat	9	7	3	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr6:101247339T>C	ENST00000369162.2	-	7	1581	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	ASCC3_ENST00000522650.1_Missense_Mutation_p.M413V	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	413					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GATGTTTTCATGGCTTCAGCC	0.368																																																	0								ENSG00000112249						118	118	118					6																	101247339		2203	4300	6503	ASCC3	SO:0001583	missense	0			-	HGNC	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1237A>G	6.37:g.101247339T>C	ENSP00000358159:p.Met413Val	Somatic	0	47	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	42	0	0	38	36.67	22	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M413V	ENST00000369162.2	37	c.1237	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960315	0.34565	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.55930	0.56;0.49	5.31	4.13	0.48395	.	0.156377	0.56097	D	0.000032	T	0.20210	0.0486	N	0.22421	0.69	0.80722	D	1	B;B	0.15473	0.013;0.001	B;B	0.15484	0.013;0.005	T	0.04216	-1.0968	10	0.26408	T	0.33	.	12.1038	0.53801	0.0:0.0:0.1491:0.8509	.	413;413	E7EW23;Q8N3C0	.;HELC1_HUMAN	V	413	ENSP00000358159:M413V;ENSP00000430769:M413V	ENSP00000358159:M413V	M	-	1	0	ASCC3	101354060	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.622000	0.61240	0.843000	0.35070	0.377000	0.23210	ATG	-	superfamily_P-loop_NTPase		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	protein_coding	OTTHUMT00000041632.2	T	NM_006828	-		101247339	-1	no_errors	ENST00000369162	ensembl	human	known	74_37	missense	SNP	1.000	C	C	101247339	T	C	101247339	3	2	43	1	0	0	0	0	1	0	0	0	1033	1464	51	5	5515	5	ASCC3	6	101247339	Missense_Mutation	SNP	T	TCGA-DX-A3LY-01B-11D-A27P-09		101247339	69867728	27	2542											
ARID1B	57492	genome.wustl.edu	37	chr6	157099426	157099427	+	In_Frame_Ins	INS	-	-	CAGCAG													agcagcagcagcagcagcaaINScagcagcagcagcagcagca					rs78253128	byFrequency	TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr6:157099426_157099427insCAGCAG	ENST00000350026.5	+	1	364_365	c.363_364insCAGCAG	c.(364-366)cag>CAGCAGcag	p.122_122Q>QQQ	MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000275248.4_In_Frame_Ins_p.64_64Q>QQQ|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000367148.1_In_Frame_Ins_p.122_122Q>QQQ|ARID1B_ENST00000346085.5_In_Frame_Ins_p.122_122Q>QQQ|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	122	Gln-rich.|Poly-Gln.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		agcagcagcaacagcagcagca	0.644																																																	0								ENSG00000049618																																			ARID1B	SO:0001652	inframe_insertion	0				HGNC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.376_381dupCAGCAG	6.37:g.157099427_157099432dupCAGCAG	ENSP00000055163:p.GlnGln130dup	Somatic					0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Ins	INS	16	15.79	3	33	21.43	9	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.125in_frame_insQQ	ENST00000350026.5	37	c.363_364	CCDS5251.2	6																																																																																			-	NULL		0.644	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	protein_coding	OTTHUMT00000372723.1	-	NM_020732			157099427	1	no_errors	ENST00000367148	ensembl	human	known	74_37	in_frame_ins	INS	0.847:0.974	CAGCAG	CAGCAG	157099427	-	CAGCAG	157099426	7	5	43	1	0	1	1	0	0	0	0	0	914	40	2	0	365	0	ARID1B	6	157099426	In_Frame_Ins	INS	-	TCGA-DX-A3LY-01B-11D-A27P-09	55852087	157099426	14015641	28	2543											
TAF1L	138474	genome.wustl.edu	37	chr9	32634701	32634701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcattccacctcctggatctGctcttcctgtatcagctcac	6	16	4	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr9:32634701G>T	ENST00000242310.4	-	1	966	c.877C>A	c.(877-879)Cag>Aag	p.Q293K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	293					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTGGATCTGCTCTTCCTGT	0.512																																																	0								ENSG00000122728						178	162	167					9																	32634701		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.877C>A	9.37:g.32634701G>T	ENSP00000418379:p.Gln293Lys	Somatic	0	82	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	Q0VG57	Missense_Mutation	SNP	30	0	0	35	25.53	12	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.Q293K	ENST00000242310.4	37	c.877	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275179	0.23307	.	.	ENSG00000122728	ENST00000242310	T	0.06933	3.24	1.04	1.04	0.20106	.	0.270901	0.37437	N	0.002090	T	0.03053	0.0090	N	0.08118	0	0.27553	N	0.95044	B	0.09022	0.002	B	0.10450	0.005	T	0.46148	-0.9212	10	0.05959	T	0.93	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	293	Q8IZX4	TAF1L_HUMAN	K	293	ENSP00000418379:Q293K	ENSP00000418379:Q293K	Q	-	1	0	TAF1L	32624701	0.998000	0.40836	0.996000	0.52242	0.848000	0.48234	2.392000	0.44433	0.507000	0.28148	0.195000	0.17529	CAG	-	pirsf_TAF1_animal		0.512	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32634701	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32634701	G	T	32634701	3	4	43	1	0	0	0	0	1	0	0	0	15530	1328	46	3	4607	3	TAF1L	9	32634701	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09		32634701	108578730	29	2544											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702256	27702257	+	Frame_Shift_Ins	INS	-	-	C													actggcccattcctaggctgINSccccccaagatgtatcctcc					rs369926016|rs112067123|rs75297921|rs377312318	byFrequency	TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr10:27702256_27702257insC	ENST00000438700.3	-	1	1040_1041	c.923_924insG	c.(922-924)ggcfs	p.G308fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	308					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTCCTAGGCTGCCCCCCAAGAT	0.589													CCCCCC|CCCCCC|CCCCCCC|insertion	1387	0.276957	0.2693	0.304	5008	,	,		18563	0.1806		0.3449	False		,,,				2504	0.2975																0								ENSG00000182077																																			PTCHD3	SO:0001589	frameshift_variant	0				HGNC	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.924dupG	10.37:g.27702262_27702262dupC	ENSP00000417658:p.Gly308fs	Somatic	0	31	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	I3L499|Q6ZU28	Frame_Shift_Ins	INS	25	0	0	47	0.00	0	pfam_Patched,pfscan_SSD	p.S309fs	ENST00000438700.3	37	c.924_923	CCDS31173.1	10																																																																																			-	pfam_Patched		0.589	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	protein_coding	OTTHUMT00000047325.3	-	XM_370541			27702257	-1	no_errors	ENST00000438700	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	C	C	27702257	-	C	27702256	7	5	43	1	0	1	1	0	0	0	0	0	12739	1306	46	0	1395	0	PTCHD3	10	27702256	Frame_Shift_Ins	INS	-	TCGA-DX-A3LY-01B-11D-A27P-09		27702256	107832491	30	2545											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7670079	7670079	+	Frame_Shift_Del	DEL	G	G	-													ggaagaagcttgttttagcaGtgaaagccatcaacaccaaa							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr11:7670079delG	ENST00000299492.4	+	19	2234	c.1846delG	c.(1846-1848)gtgfs	p.V616fs	PPFIBP2_ENST00000528883.1_Frame_Shift_Del_p.V504fs|PPFIBP2_ENST00000533792.1_Frame_Shift_Del_p.V458fs|PPFIBP2_ENST00000530181.1_Frame_Shift_Del_p.V473fs|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	616	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTTTTAGCAGTGAAAGCCAT	0.428																																																	0								ENSG00000166387						167	172	170					11																	7670079		2201	4296	6497	PPFIBP2	SO:0001589	frameshift_variant	0				HGNC	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1846delG	11.37:g.7670079delG	ENSP00000299492:p.Val616fs	Somatic	0	15	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	B7Z433|E9PK77|O75337|Q8WW26	Frame_Shift_Del	DEL	29	0	0	41	16.33	8	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V616fs	ENST00000299492.4	37	c.1846	CCDS31419.1	11																																																																																			-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.428	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	protein_coding	OTTHUMT00000385345.2	G	NM_003621			7670079	1	no_errors	ENST00000299492	ensembl	human	known	74_37	frame_shift_del	DEL	0.985	-	-	7670079	G	-	7670079	7	5	43	1	0	1	0	1	0	0	0	0	12316	1029	36	0	1916	0	PPFIBP2	11	7670079	Frame_Shift_Del	DEL	G	TCGA-DX-A3LY-01B-11D-A27P-09		7670079	127336437	31	2546											
ACCSL	390110	genome.wustl.edu	37	chr11	44074988	44074988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccttgtgctaatcaaCcctcagaatcctctgggtga	10	12	3	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr11:44074988C>A	ENST00000378832.1	+	8	1037	c.981C>A	c.(979-981)aaC>aaA	p.N327K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	327					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGCTAATCAACCCTCAGAATC	0.443																																																	0								ENSG00000205126						115	107	109					11																	44074988		1851	4089	5940	ACCSL	SO:0001583	missense	0			-	HGNC		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.981C>A	11.37:g.44074988C>A	ENSP00000368109:p.Asn327Lys	Somatic	0	35	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42		Missense_Mutation	SNP	30	0	0	23	46.51	20	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.N327K	ENST00000378832.1	37	c.981	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708130	0.30322	.	.	ENSG00000205126	ENST00000378832	D	0.91740	-2.9	4.45	-0.959	0.10343	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	H	0.97659	4.05	0.53005	D	0.999965	D	0.65815	0.995	D	0.71414	0.973	D	0.93035	0.6452	10	0.87932	D	0	-28.343	5.2389	0.15462	0.0:0.4691:0.1463:0.3846	.	327	Q4AC99	1A1L2_HUMAN	K	327	ENSP00000368109:N327K	ENSP00000368109:N327K	N	+	3	2	ACCSL	44031564	1.000000	0.71417	0.495000	0.27527	0.008000	0.06430	1.233000	0.32648	-0.045000	0.13468	-1.058000	0.02302	AAC	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.443	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	protein_coding	OTTHUMT00000389717.1	C	NM_001031854	-		44074988	1	no_errors	ENST00000378832	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44074988	C	A	44074988	3	1	43	1	0	0	0	0	1	0	0	0	134	506	18	3	1011	3	ACCSL	11	44074988	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	36404909	44074988	90931528	32	2547											
OR5AR1	219493	genome.wustl.edu	37	chr11	56431448	56431448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaagttatctccttctccaGctgtgccacccagtttgctt	6	14	2	0	rs188426984		TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr11:56431448G>C	ENST00000302969.2	+	1	311	c.287G>C	c.(286-288)aGc>aCc	p.S96T		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCTTCTCCAGCTGTGCCACC	0.512																																																	0								ENSG00000172459						182	184	183					11																	56431448		2201	4296	6497	OR5AR1	SO:0001583	missense	0			-	HGNC	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.287G>C	11.37:g.56431448G>C	ENSP00000302639:p.Ser96Thr	Somatic	0	43	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	Q6IF61	Missense_Mutation	SNP	19	0	0	42	27.59	16	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S96T	ENST00000302969.2	37	c.287	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372673	0.24857	.	.	ENSG00000172459	ENST00000302969	T	0.03035	4.07	5.04	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.03011	0.0089	N	0.25992	0.78	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.39820	-0.9595	10	0.72032	D	0.01	.	6.204	0.20591	0.1625:0.1544:0.6831:0.0	.	96	Q8NGP9	O5AR1_HUMAN	T	96	ENSP00000302639:S96T	ENSP00000302639:S96T	S	+	2	0	OR5AR1	56188024	0.001000	0.12720	0.995000	0.50966	0.887000	0.51463	0.532000	0.23067	0.696000	0.31696	-0.254000	0.11334	AGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.512	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	protein_coding	OTTHUMT00000334434.1	G	NM_001004730	-		56431448	1	no_errors	ENST00000302969	ensembl	human	known	74_37	missense	SNP	0.048	C	C	56431448	G	C	56431448	3	2	43	1	0	0	0	0	1	0	0	0	11147	971	34	4	289	4	OR5AR1	11	56431448	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	12356460	56431448	78575068	33	2548											
NAALADL1	10004	genome.wustl.edu	37	chr11	64812756	64812757	+	Frame_Shift_Ins	INS	-	-	CAGGCCT													ctggggtcagaggtcagccaINScaggcctcagggtggctgcc							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr11:64812756_64812757insCAGGCCT	ENST00000358658.3	-	18	2236_2237	c.2209_2210insAGGCCTG	c.(2209-2211)gtgfs	p.V737fs	NAALADL1_ENST00000340252.4_Frame_Shift_Ins_p.V788fs|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000526799.1_Frame_Shift_Ins_p.V84fs|NAALADL1_ENST00000356632.3_Frame_Shift_Ins_p.V702fs|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000355721.3_Frame_Shift_Ins_p.V696fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	737						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GAGGTCAGCCACAGGCCTCAGG	0.599																																																	0								ENSG00000168060																																			NAALADL1	SO:0001589	frameshift_variant	0				HGNC	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.2203_2209dupAGGCCTG	11.37:g.64812757_64812763dupCAGGCCT	ENSP00000351484:p.Val737fs	Somatic					0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1				C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Frame_Shift_Ins	INS	30	0	0	49	0.00	0	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.V737fs	ENST00000358658.3	37	c.2210_2209	CCDS31604.1	11																																																																																			-	superfamily_TFR-like_dimer_dom		0.599	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	protein_coding	OTTHUMT00000385162.1	-	NM_005468			64812757	-1	no_errors	ENST00000358658	ensembl	human	known	74_37	frame_shift_ins	INS	0.970:0.966	CAGGCCT	CAGGCCT	64812757	-	CAGGCCT	64812756	7	5	43	1	0	1	1	0	0	0	0	0	10131	159	6	0	16	0	NAALADL1	11	64812756	Frame_Shift_Ins	INS	-	TCGA-DX-A3LY-01B-11D-A27P-09	8381308	64812756	70193760	34	2549											
RBM4	5936	genome.wustl.edu	37	chr11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-													cctcaggagctgctgccacaGctgctgctgcagcagcagcc							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																																	0								ENSG00000173933																																			RBM4	SO:0001651	inframe_deletion	0				HGNC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	Somatic					0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	25	0	0	31	11.43	4	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.AAAAAAA289in_frame_del	ENST00000409406.1	37	c.856_876	CCDS41676.1	11																																																																																			-	NULL		0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	protein_coding	OTTHUMT00000334212.1	GCTGCTGCTGCAGCAGCAGCC	NM_002896			66411384	1	no_errors	ENST00000310092	ensembl	human	known	74_37	in_frame_del	DEL	0.996:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.747:0.972:1.000:0.998:1.000:1.000:0.570:0.587:0.567:0.160	-	-	66411384	GCTGCTGCTGCAGCAGCAGCC	-	66411364	7	5	43	1	0	1	0	1	0	0	0	0	13142	971	34	0	862	0	RBM4	11	66411364	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	TCGA-DX-A3LY-01B-11D-A27P-09	1598608	66411364	68595152	35	2550											
MMP27	64066	genome.wustl.edu	37	chr11	102573792	102573792	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccacacttctaaaccTtcttggatagcctcatccac	4	15	3	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr11:102573792T>A	ENST00000260229.4	-	3	490	c.399A>T	c.(397-399)gaA>gaT	p.E133D		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	133					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CTTCTAAACCTTCTTGGATAG	0.383																																																	0								ENSG00000137675						112	104	106					11																	102573792		2203	4299	6502	MMP27	SO:0001583	missense	0			-	HGNC	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.399A>T	11.37:g.102573792T>A	ENSP00000260229:p.Glu133Asp	Somatic	0	35	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	Q6UWK6	Missense_Mutation	SNP	35	0	0	46	11.54	6	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.E133D	ENST00000260229.4	37	c.399	CCDS8319.1	11	.	.	.	.	.	.	.	.	.	.	T	9.095	1.002604	0.19121	.	.	ENSG00000137675	ENST00000260229	T	0.22134	1.97	5.0	-1.88	0.07713	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.296561	0.28683	N	0.014486	T	0.07593	0.0191	N	0.10945	0.07	0.21579	N	0.999634	B	0.06786	0.001	B	0.11329	0.006	T	0.16630	-1.0396	10	0.66056	D	0.02	.	0.5138	0.00600	0.3436:0.2833:0.1741:0.1989	.	133	Q9H306	MMP27_HUMAN	D	133	ENSP00000260229:E133D	ENSP00000260229:E133D	E	-	3	2	MMP27	102079002	0.965000	0.33210	0.060000	0.19600	0.083000	0.17756	0.062000	0.14389	-0.210000	0.10140	-0.490000	0.04691	GAA	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A		0.383	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	protein_coding	OTTHUMT00000398128.1	T	NM_022122	-		102573792	-1	no_errors	ENST00000260229	ensembl	human	known	74_37	missense	SNP	0.410	A	A	102573792	T	A	102573792	3	1	43	1	0	0	0	0	1	0	0	0	9666	1606	56	5	1174	5	MMP27	11	102573792	Missense_Mutation	SNP	T	TCGA-DX-A3LY-01B-11D-A27P-09	36162428	102573792	32432724	36	2551											
LRTM2	654429	genome.wustl.edu	37	chr12	1943689	1943689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggccggcgagcgtgagGcgagccatgggcacggtgat	18	12	0	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:1943689G>A	ENST00000543818.1	+	5	1757	c.915G>A	c.(913-915)agG>agA	p.R305R	CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Silent_p.R305R|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Silent_p.R305R	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	305						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CGAGCGTGAGGCGAGCCATGG	0.677																																																	0								ENSG00000166159						40	38	39					12																	1943689		2180	4248	6428	LRTM2	SO:0001819	synonymous_variant	0			-	HGNC	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.915G>A	12.37:g.1943689G>A		Somatic	0	40	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	31	48.33	A7E2U6	Silent	SNP	19	0	0	15	44.44	12	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R305	ENST00000543818.1	37	c.915	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	G	2.295	-0.361601	0.05103	.	.	ENSG00000166159	ENST00000424079	.	.	.	5.44	-0.503	0.12000	.	.	.	.	.	T	0.67767	0.2928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68784	-0.5317	5	0.66056	D	0.02	.	10.6057	0.45392	0.0:0.4395:0.2996:0.2609	.	.	.	.	T	62	.	ENSP00000394967:A62T	A	+	1	0	LRTM2	1813950	1.000000	0.71417	0.980000	0.43619	0.068000	0.16541	0.726000	0.25984	0.003000	0.14656	-0.175000	0.13238	GCG	-	NULL		0.677	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	protein_coding	OTTHUMT00000398055.1	G		-		1943689	1	no_errors	ENST00000299194	ensembl	human	known	74_37	silent	SNP	0.996	A	A	1943689	G	A	1943689	2	1	43	1	0	0	0	0	0	0	0	1	9047	1194	42	2		2	LRTM2	12	1943689	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09		1943689	131908206	37	2552											
KRT78	196374	genome.wustl.edu	37	chr12	53237971	53237971	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcatcctgtccccaTgaagctgggcagacacctga	9	14	0	3			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:53237971T>A	ENST00000304620.4	-	6	1016	c.953A>T	c.(952-954)cAt>cTt	p.H318L	KRT78_ENST00000359499.4_Missense_Mutation_p.H208L	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	318	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCTGTCCCCATGAAGCTGGGC	0.512																																																	0								ENSG00000170423						167	151	156					12																	53237971		2203	4300	6503	KRT78	SO:0001583	missense	0			-	HGNC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.953A>T	12.37:g.53237971T>A	ENSP00000306261:p.His318Leu	Somatic	0	51	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	21	0	0	40	18.37	9	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.H318L	ENST00000304620.4	37	c.953	CCDS8840.1	12	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004554	0.54254	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.89123	-2.47;-2.47	4.65	2.26	0.28386	Filament (1);	0.257284	0.20449	N	0.092137	D	0.92974	0.7764	H	0.96398	3.815	0.09310	N	1	P	0.50528	0.936	P	0.50082	0.63	D	0.86822	0.2005	10	0.87932	D	0	.	6.4542	0.21920	0.0:0.2204:0.0:0.7796	.	318	Q8N1N4	K2C78_HUMAN	L	208;318;89	ENSP00000352479:H208L;ENSP00000306261:H318L	ENSP00000306261:H318L	H	-	2	0	KRT78	51524238	0.959000	0.32827	0.002000	0.10522	0.006000	0.05464	2.747000	0.47475	0.370000	0.24538	0.456000	0.33151	CAT	-	pfam_IF,prints_Keratin_II		0.512	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	protein_coding	OTTHUMT00000406380.1	T	NM_173352	-		53237971	-1	no_errors	ENST00000304620	ensembl	human	known	74_37	missense	SNP	0.024	A	A	53237971	T	A	53237971	3	1	43	1	0	0	0	0	1	0	0	0	8493	1464	51	5	625	5	KRT78	12	53237971	Missense_Mutation	SNP	T	TCGA-DX-A3LY-01B-11D-A27P-09	51294282	53237971	80613924	38	2553											
KRT8	3856	genome.wustl.edu	37	chr12	53292604	53292604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagggcggcctccagctcgGacaacttggcgttggcatcc	14	14	0	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:53292604G>T	ENST00000552551.1	-	7	1493	c.1061C>A	c.(1060-1062)tCc>tAc	p.S354Y	KRT8_ENST00000546897.1_Missense_Mutation_p.S354Y|KRT8_ENST00000293308.6_Missense_Mutation_p.S354Y|KRT8_ENST00000552150.1_Missense_Mutation_p.S382Y			P05787	K2C8_HUMAN	keratin 8	354	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CTCCAGCTCGGACAACTTGGC	0.642																																																	0								ENSG00000170421						53	53	53					12																	53292604		2203	4300	6503	KRT8	SO:0001583	missense	0			-	HGNC	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1061C>A	12.37:g.53292604G>T	ENSP00000447566:p.Ser354Tyr	Somatic	0	55	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	30	0	0	42	16.00	8	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.S354Y	ENST00000552551.1	37	c.1061	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718488	0.15372	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	3.85	-0.795	0.10915	Filament (1);	0.861931	0.10292	N	0.692201	D	0.83667	0.5304	M	0.84082	2.675	0.09310	N	1	B;B	0.32526	0.323;0.374	B;P	0.45037	0.272;0.467	T	0.78909	-0.2018	10	0.72032	D	0.01	.	12.7756	0.57445	0.0:0.0:0.392:0.608	.	382;354	F8VXB4;P05787	.;K2C8_HUMAN	Y	354;354;354;382	ENSP00000447566:S354Y;ENSP00000293308:S354Y;ENSP00000447402:S354Y;ENSP00000449404:S382Y	ENSP00000293308:S354Y	S	-	2	0	KRT8	51578871	0.000000	0.05858	0.286000	0.24833	0.001000	0.01503	0.358000	0.20216	0.029000	0.15352	-1.431000	0.01090	TCC	-	pfam_IF,prints_Keratin_II,prints_Keratin_I		0.642	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	protein_coding	OTTHUMT00000406385.1	G	NM_002273	-		53292604	-1	no_errors	ENST00000293308	ensembl	human	known	74_37	missense	SNP	0.035	T	T	53292604	G	T	53292604	3	4	43	1	0	0	0	0	1	0	0	0	8495	1174	41	3	402	3	KRT8	12	53292604	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	54633	53292604	80559291	39	2554											
OBFC2B	79035	genome.wustl.edu	37	chr12	56618713	56618713	+	Missense_Mutation	SNP	G	G	A													accttatcttcattgtgctgGagacaggtgtctatactggg							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:56618713G>A	ENST00000380198.2	+	1	571	c.73G>A	c.(73-75)Gag>Aag	p.E25K	RNF41_ENST00000552656.1_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.E25K|NABP2_ENST00000267023.4_Missense_Mutation_p.E25K			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	25					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										CATTGTGCTGGAGACAGGTGT	0.572											OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139579						115	104	108					12																	56618713		2203	4300	6503	NABP2	SO:0001583	missense	0			-	HGNC	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.73G>A	12.37:g.56618713G>A	ENSP00000369545:p.Glu25Lys	Somatic	0	38	0	1016	0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	23	58.18	A6NDF8|Q6XYC8	Missense_Mutation	SNP	27	0	0	52	38.82	33	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold	p.E25K	ENST00000380198.2	37	c.73	CCDS8911.1	12	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012345	0.93346	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.27	4.27	0.50696	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000002	T	0.48466	0.1501	M	0.79011	2.435	0.53688	D	0.999972	P;P;P	0.48640	0.913;0.654;0.642	P;P;P	0.58172	0.834;0.604;0.673	T	0.54899	-0.8224	10	0.72032	D	0.01	.	16.0037	0.80327	0.0:0.0:1.0:0.0	.	25;25;25	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	K	25	ENSP00000413902:E25K;ENSP00000408616:E25K;ENSP00000267023:E25K;ENSP00000369545:E25K;ENSP00000368862:E25K	ENSP00000267023:E25K	E	+	1	0	OBFC2B	54904980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.075000	0.89502	2.381000	0.81170	0.557000	0.71058	GAG	-	superfamily_NA-bd_OB-fold		0.572	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	protein_coding	OTTHUMT00000326610.1	G	NM_024068	-		56618713	1	no_errors	ENST00000267023	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56618713	G	A	56618713	3	1	43	1	0	0	0	0	1	0	0	0	10811	1175	41	2	75	2	OBFC2B	12	56618713	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	3326109	56618713	77233182	40	2555	38	2									
OBFC2B	79035	genome.wustl.edu	37	chr12	56618715	56618715	+	Silent	SNP	G	G	A													cttatcttcattgtgctggaGacaggtgtctatactggggt							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:56618715G>A	ENST00000380198.2	+	1	573	c.75G>A	c.(73-75)gaG>gaA	p.E25E	RNF41_ENST00000552656.1_5'Flank|NABP2_ENST00000341463.5_Silent_p.E25E|NABP2_ENST00000267023.4_Silent_p.E25E			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	25					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TTGTGCTGGAGACAGGTGTCT	0.572											OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139579						113	102	106					12																	56618715		2203	4300	6503	NABP2	SO:0001819	synonymous_variant	0			-	HGNC	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.75G>A	12.37:g.56618715G>A		Somatic	0	38	0	1016	0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	22	57.69	A6NDF8|Q6XYC8	Silent	SNP	26	3.7	1	51	39.29	33	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold	p.E25	ENST00000380198.2	37	c.75	CCDS8911.1	12																																																																																			-	superfamily_NA-bd_OB-fold		0.572	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	protein_coding	OTTHUMT00000326610.1	G	NM_024068	-		56618715	1	no_errors	ENST00000267023	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56618715	G	A	56618715	2	1	43	1	0	0	0	0	0	0	0	1	10811	933	33	2		2	OBFC2B	12	56618715	Silent	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	2	56618715	77233180	41	2556	38	2									
METTL1	25895	genome.wustl.edu	37	chr12	58164954	58164954	+	5'Flank	DEL	G	G	-													tcttttctttcttatcctttGggtcatcgtggctctgattt							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:58164954delG	ENST00000300209.8	+	0	0				METTL1_ENST00000548681.1_5'UTR|METTL21B_ENST00000548256.1_5'Flank|RP11-571M6.15_ENST00000471530.1_5'Flank|METTL1_ENST00000324871.7_Frame_Shift_Del_p.P66fs|METTL21B_ENST00000551420.1_5'Flank|METTL21B_ENST00000333012.5_5'Flank|METTL1_ENST00000257848.7_Frame_Shift_Del_p.P66fs	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CTTATCCTTTGGGTCATCGTG	0.498																																																	0								ENSG00000037897						128	102	110					12																	58164954		2203	4300	6503	METTL1	SO:0001631	upstream_gene_variant	0				HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58164954delG	Exception_encountered	Somatic	0	106	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	157	15.59	Q9H749|Q9Y3W2	Frame_Shift_Del	DEL	24	0	0	81	18.18	18	pfam_tRNA_(Gua-N-7)_MeTrfase,tigrfam_tRNA_(Gua-N-7)_MeTrfase	p.P66fs	ENST00000300209.8	37	c.197	CCDS8957.1	12																																																																																			-	pfam_tRNA_(Gua-N-7)_MeTrfase		0.498	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL1	protein_coding	OTTHUMT00000409268.1	G	NM_015433			58164954	-1	no_errors	ENST00000324871	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	58164954	G	-	58164954	6	5	43	0	1	1	0	1	0	0	0	0	9495	1348	47	0		0	METTL1	12	58164954	5'Flank	DEL	G	TCGA-DX-A3LY-01B-11D-A27P-09	1546239	58164954	75686941	42	2557											
OSBPL8	114882	genome.wustl.edu	37	chr12	76844700	76844700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggttggcgttggataagcttCttttccttggcgctgactca	12	9	2	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:76844700C>G	ENST00000261183.3	-	4	627	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	OSBPL8_ENST00000393249.2_Missense_Mutation_p.E8Q|OSBPL8_ENST00000393250.4_Missense_Mutation_p.E8Q	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	50					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GGATAAGCTTCTTTTCCTTGG	0.433																																																	0								ENSG00000091039						166	142	150					12																	76844700		2203	4300	6503	OSBPL8	SO:0001583	missense	0			-	HGNC	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.148G>C	12.37:g.76844700C>G	ENSP00000261183:p.Glu50Gln	Somatic	0	61	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	221	72	75.43	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	35	0	0	57	75.42	178	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E50Q	ENST00000261183.3	37	c.148	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918727	0.92249	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000548341;ENST00000553139;ENST00000549570;ENST00000551927;ENST00000547544	T;T;T;T;T;T	0.50277	1.4;2.79;1.4;2.79;2.79;0.75	5.7	5.7	0.88788	.	0.352683	0.32231	N	0.006382	T	0.32376	0.0827	N	0.19112	0.55	0.34370	D	0.691953	P	0.41673	0.759	B	0.32289	0.143	T	0.45789	-0.9237	10	0.37606	T	0.19	-12.4206	18.3908	0.90483	0.0:1.0:0.0:0.0	.	50	Q9BZF1	OSBL8_HUMAN	Q	8;50;35;8;50;50;37;8;8;50;47	ENSP00000376939:E8Q;ENSP00000261183:E50Q;ENSP00000376940:E8Q;ENSP00000450238:E50Q;ENSP00000446886:E37Q;ENSP00000449618:E8Q	ENSP00000261183:E50Q	E	-	1	0	OSBPL8	75368831	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.324000	0.52022	2.675000	0.91044	0.655000	0.94253	GAA	-	NULL		0.433	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	protein_coding	OTTHUMT00000406357.1	C	NM_020841	-		76844700	-1	no_errors	ENST00000261183	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76844700	C	G	76844700	3	3	43	1	0	0	0	0	1	0	0	0	11285	922	32	4	2605	4	OSBPL8	12	76844700	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	18679746	76844700	57007195	43	2558			2	33		2	2	23	C		3.979667e-05
OSBPL8	114882	genome.wustl.edu	37	chr12	76844722	76844722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttccttggcgctgactcatCtttcctggtgtcagaagctg	10	11	3	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:76844722C>G	ENST00000261183.3	-	4	605	c.126G>C	c.(124-126)aaG>aaC	p.K42N	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	42					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GCTGACTCATCTTTCCTGGTG	0.428																																																	0								ENSG00000091039						160	140	147					12																	76844722		2203	4300	6503	OSBPL8	SO:0001583	missense	0			-	HGNC	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.126G>C	12.37:g.76844722C>G	ENSP00000261183:p.Lys42Asn	Somatic	0	63	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	193	63	75.10	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	37	0	0	55	77.14	189	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K42N	ENST00000261183.3	37	c.126	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005458	0.74932	.	.	ENSG00000091039	ENST00000261183;ENST00000446075;ENST00000438913;ENST00000547540;ENST00000548341;ENST00000551927;ENST00000547544	T;T;T	0.12255	2.7;2.7;2.7	5.66	3.83	0.44106	.	0.270493	0.36972	N	0.002304	T	0.19525	0.0469	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.01725	-1.1287	10	0.59425	D	0.04	-6.9996	9.7585	0.40517	0.0:0.7711:0.0:0.2289	.	42	Q9BZF1	OSBL8_HUMAN	N	42;27;42;42;29;42;39	ENSP00000261183:K42N;ENSP00000450238:K42N;ENSP00000446886:K29N	ENSP00000261183:K42N	K	-	3	2	OSBPL8	75368853	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.250000	0.32850	0.738000	0.32606	-0.136000	0.14681	AAG	-	NULL		0.428	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	protein_coding	OTTHUMT00000406357.1	C	NM_020841	-		76844722	-1	no_errors	ENST00000261183	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76844722	C	G	76844722	3	3	43	1	0	0	0	0	1	0	0	0	11285	912	32	4	2627	4	OSBPL8	12	76844722	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	22	76844722	57007173	44	2559			2	33		2	2	23	C		3.979667e-05
TDG	6996	genome.wustl.edu	37	chr12	104370754	104370754	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttcaacaactgatggctGaagctcctaatatggcagtt	8	9	1	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr12:104370754G>T	ENST00000392872.3	+	2	316	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	TDG_ENST00000542036.1_5'Flank|TDG_ENST00000266775.9_Nonsense_Mutation_p.E24*|TDG_ENST00000544861.1_Intron	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	28					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ACTGATGGCTGAAGCTCCTAA	0.423								Base excision repair (BER), DNA glycosylases																																									0								ENSG00000139372						51	50	50					12																	104370754		2203	4297	6500	TDG	SO:0001587	stop_gained	0			-	HGNC	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.82G>T	12.37:g.104370754G>T	ENSP00000376611:p.Glu28*	Somatic	0	43	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q8IUZ6|Q8IZM3	Nonsense_Mutation	SNP	23	0	0	56	0.00	0	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	p.E28*	ENST00000392872.3	37	c.82	CCDS9095.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.042579	0.97231	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	.	.	.	4.68	3.77	0.43336	.	0.416433	0.27189	N	0.020503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-3.6003	13.0183	0.58771	0.0798:0.0:0.9202:0.0	.	.	.	.	X	28;3;24;28	.	ENSP00000266775:E24X	E	+	1	0	TDG	102894884	0.972000	0.33761	0.533000	0.28001	0.963000	0.63663	5.033000	0.64146	2.150000	0.67090	0.655000	0.94253	GAA	-	tigrfam_Thymine-DNA_glycosylase		0.423	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDG	protein_coding	OTTHUMT00000399673.2	G		-		104370754	1	no_errors	ENST00000392872	ensembl	human	known	74_37	nonsense	SNP	0.905	T	T	104370754	G	T	104370754	4	4	43	1	0	0	0	0	0	1	0	0	15732	1291	45	3	88	3	TDG	12	104370754	Nonsense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	27526032	104370754	29481141	45	2560											
ATXN3	4287	genome.wustl.edu	37	chr14	92537357	92537358	+	In_Frame_Ins	INS	-	-	CTGCTGCTGCTGCTGCTG													tgtcctgataggtccccctgINSctgctgctgctgctgctgct							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr14:92537357_92537358insCTGCTGCTGCTGCTGCTG	ENST00000532032.1	-	10	921_922	c.912_913insCAGCAGCAGCAGCAGCAG	c.(910-915)cagcag>cagCAGCAGCAGCAGCAGCAGcag	p.304_305QQ>QQQQQQQQ	ATXN3_ENST00000502250.1_In_Frame_Ins_p.125_126QQ>QQQQQQQQ|ATXN3_ENST00000545170.1_In_Frame_Ins_p.313_314QQ>QQQQQQQQ|ATXN3_ENST00000503767.1_In_Frame_Ins_p.289_290QQ>QQQQQQQQ|ATXN3_ENST00000340660.6_In_Frame_Ins_p.249_250QQ>QQQQQQQQ|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_In_Frame_Ins_p.304_305QQ>QQQQQQQQ|ATXN3_ENST00000429774.2_In_Frame_Ins_p.297_298QQ>QQQQQQQQ			P54252	ATX3_HUMAN	ataxin 3	304	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGGTCCCCctgctgctgctgct	0.446																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												0								ENSG00000066427																																			ATXN3	SO:0001652	inframe_insertion	0				HGNC	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.895_912dupCAGCAGCAGCAGCAGCAG	14.37:g.92537357_92537358insCTGCTGCTGCTGCTGCTG	ENSP00000437157:p.Gln299_Gln304dup	Somatic					0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Ins	INS	33	0	0	68	0.00	0	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.314in_frame_insQQQQQQ	ENST00000532032.1	37	c.940_939		14																																																																																			-	NULL		0.446	ATXN3-015	KNOWN	basic	protein_coding	ATXN3	protein_coding	OTTHUMT00000388065.1	-	NM_004993			92537358	-1	no_errors	ENST00000545170	ensembl	human	known	74_37	in_frame_ins	INS	0.831:0.984	CTGCTGCTGCTGCTGCTG	CTGCTGCTGCTGCTGCTG	92537358	-	CTGCTGCTGCTGCTGCTG	92537357	7	5	43	1	0	1	1	0	0	0	0	0	1213	1328	46	0	180	0	ATXN3	14	92537357	In_Frame_Ins	INS	-	TCGA-DX-A3LY-01B-11D-A27P-09		92537357	14812183	46	2561											
KIF26A	26153	genome.wustl.edu	37	chr14	104640551	104640551	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgccgcaccaccatgatCgcccacgtgtcggatgcgcc	12	17	0	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr14:104640551C>T	ENST00000423312.2	+	11	2097	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	KIF26A_ENST00000315264.7_Silent_p.I560I	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	699	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCACCATGATCGCCCACGTGT	0.677																																																	0								ENSG00000066735						16	23	21					14																	104640551		2169	4250	6419	KIF26A	SO:0001819	synonymous_variant	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2097C>T	14.37:g.104640551C>T		Somatic	0	75	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	56	37.08	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	21	0	0	24	31.43	11	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.I699	ENST00000423312.2	37	c.2097	CCDS45171.1	14																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom		0.677	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	C		-		104640551	1	no_errors	ENST00000423312	ensembl	human	known	74_37	silent	SNP	0.834	T	T	104640551	C	T	104640551	2	4	43	1	0	0	0	0	0	0	0	1	8296	874	31	1		1	KIF26A	14	104640551	Silent	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	12103194	104640551	2708989	47	2562											
GTF3C1	2975	genome.wustl.edu	37	chr16	27509985	27509985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattggagatccggaagcGgacctgctcgatggcacttc	13	10	0	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr16:27509985G>A	ENST00000356183.4	-	13	2146	c.2131C>T	c.(2131-2133)Cgc>Tgc	p.R711C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R711C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	711					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATCCGGAAGCGGACCTGCTCG	0.587																																																	0								ENSG00000077235						191	170	177					16																	27509985		2197	4300	6497	GTF3C1	SO:0001583	missense	0			-	HGNC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2131C>T	16.37:g.27509985G>A	ENSP00000348510:p.Arg711Cys	Somatic	0	49	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	28	3.45	1	45	11.76	6	pfam_TFIIIC_Bblock-bd	p.R711C	ENST00000356183.4	37	c.2131	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964200	0.92791	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28255	1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62572	-0.6826	10	0.87932	D	0	-22.4169	18.584	0.91182	0.0:0.0:1.0:0.0	.	711;711	Q12789;Q12789-3	TF3C1_HUMAN;.	C	711;709	ENSP00000348510:R711C	ENSP00000348510:R711C	R	-	1	0	GTF3C1	27417486	1.000000	0.71417	0.931000	0.37212	0.995000	0.86356	9.281000	0.95811	2.478000	0.83669	0.563000	0.77884	CGC	-	NULL		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	G	NM_001520	-		27509985	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	SNP	0.999	A	A	27509985	G	A	27509985	3	1	43	1	0	0	0	0	1	0	0	0	6874	1116	39	1	4298	1	GTF3C1	16	27509985	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09		27509985	62844768	48	2563											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77325207	77325207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagctaccatgttgtacaCtggatgggctgggcaagccc	12	12	0	0	rs199845592		TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr16:77325207C>A	ENST00000282849.5	-	21	3776	c.3358G>T	c.(3358-3360)Gtg>Ttg	p.V1120L	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1120					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGTTGTACACTGGATGGGCT	0.493																																																	0								ENSG00000140873						120	115	117					16																	77325207		2198	4300	6498	ADAMTS18	SO:0001583	missense	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3358G>T	16.37:g.77325207C>A	ENSP00000282849:p.Val1120Leu	Somatic	0	50	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	44	0	0	36	21.74	10	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1120L	ENST00000282849.5	37	c.3358	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	2.907	-0.226178	0.06022	.	.	ENSG00000140873	ENST00000282849	T	0.59638	0.25	3.87	1.87	0.25490	.	1.323900	0.04706	N	0.416803	T	0.31513	0.0799	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	.	1.4102	0.02290	0.1794:0.4647:0.1531:0.2029	.	1120	Q8TE60	ATS18_HUMAN	L	1120	ENSP00000282849:V1120L	ENSP00000282849:V1120L	V	-	1	0	ADAMTS18	75882708	0.000000	0.05858	0.094000	0.20943	0.061000	0.15899	0.427000	0.21379	0.249000	0.21456	0.467000	0.42956	GTG	-	superfamily_Thrombospondin_1_rpt		0.493	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	C		rs199845592		77325207	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	SNP	0.001	A	A	77325207	C	A	77325207	3	1	43	1	0	0	0	0	1	0	0	0	263	565	20	3	319	3	ADAMTS18	16	77325207	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	49815222	77325207	13029546	49	2564											
CYTSB	92521	genome.wustl.edu	37	chr17	20000011	20000011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccatcagagcaggggGccacggcccagaccgggtgc	15	16	1	2			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr17:20000011G>A	ENST00000261503.5	+	2	98	c.47G>A	c.(46-48)gGc>gAc	p.G16D	SPECC1_ENST00000395529.3_Missense_Mutation_p.G16D|SPECC1_ENST00000395527.4_Missense_Mutation_p.G16D|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	16					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAGCAGGGGGCCACGGCCCA	0.577																																																	0								ENSG00000128487						68	77	74					17																	20000011		2203	4300	6503	SPECC1	SO:0001583	missense	0			-	HGNC	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.47G>A	17.37:g.20000011G>A	ENSP00000261503:p.Gly16Asp	Somatic	0	50	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	43	35.82	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	44	0	0	36	37.93	22	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G16D	ENST00000261503.5	37	c.47	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	5.235	0.228755	0.09916	.	.	ENSG00000128487	ENST00000395530;ENST00000413167;ENST00000261503;ENST00000395529	T;T	0.63417	-0.04;2.95	4.95	2.76	0.32466	.	0.231809	0.36972	N	0.002312	T	0.46367	0.1389	N	0.19112	0.55	0.80722	D	1	B;B	0.19200	0.034;0.02	B;B	0.21708	0.036;0.016	T	0.46261	-0.9204	10	0.52906	T	0.07	-1.5994	11.9381	0.52884	0.0:0.3338:0.6662:0.0	.	16;16	Q5M775-2;Q5M775	.;CYTSB_HUMAN	D	16	ENSP00000261503:G16D;ENSP00000378900:G16D	ENSP00000261503:G16D	G	+	2	0	SPECC1	19940603	1.000000	0.71417	0.922000	0.36590	0.044000	0.14063	1.291000	0.33330	1.185000	0.42971	0.563000	0.77884	GGC	-	NULL		0.577	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	protein_coding	OTTHUMT00000441206.1	G	NM_152904	-		20000011	1	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	SNP	0.925	A	A	20000011	G	A	20000011	3	1	43	1	0	0	0	0	1	0	0	0	4212	1203	42	2	49	2	CYTSB	17	20000011	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09		20000011	61195199	50	2565											
SPAG5	10615	genome.wustl.edu	37	chr17	26912632	26912632	+	Frame_Shift_Del	DEL	G	G	-													ttccagctggctgatgcgctGgctggcgtgtgcacagaaag							TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr17:26912632delG	ENST00000321765.5	-	8	2112	c.1780delC	c.(1780-1782)cagfs	p.Q594fs		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	594	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGATGCGCTGGCTGGCGTGT	0.537																																																	0								ENSG00000076382						134	129	131					17																	26912632		2203	4300	6503	SPAG5	SO:0001589	frameshift_variant	0				HGNC	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1780delC	17.37:g.26912632delG	ENSP00000323300:p.Gln594fs	Somatic	0	10	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	O95213|Q9BWE8|Q9NT17|Q9UFE6	Frame_Shift_Del	DEL	29	0	0	55	0.00	0	NULL	p.Q594fs	ENST00000321765.5	37	c.1780	CCDS32594.1	17																																																																																			-	NULL		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	protein_coding	OTTHUMT00000390564.2	G	NM_006461			26912632	-1	no_errors	ENST00000321765	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	26912632	G	-	26912632	7	5	43	1	0	1	0	1	0	0	0	0	14989	1357	47	0	1869	0	SPAG5	17	26912632	Frame_Shift_Del	DEL	G	TCGA-DX-A3LY-01B-11D-A27P-09	6912621	26912632	54282578	51	2566											
CLTC	1213	genome.wustl.edu	37	chr17	57737919	57737919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggaaattactcggaGgcagcaaaggtggctgctaa	14	9	0	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr17:57737919G>T	ENST00000269122.3	+	7	1411	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.E379D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	379	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTACTCGGAGGCAGCAAAGG	0.388			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0								ENSG00000141367						133	145	141					17																	57737919		2203	4300	6503	CLTC	SO:0001583	missense	0			-	HGNC	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1137G>T	17.37:g.57737919G>T	ENSP00000269122:p.Glu379Asp	Somatic	0	62	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	45	0	0	63	0.00	0	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E379D	ENST00000269122.3	37	c.1137	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903006	0.33628	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.50813	0.73;0.73	6.08	1.98	0.26296	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.64170	1.965	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.16722	0.012;0.016	T	0.29822	-0.9999	10	0.51188	T	0.08	.	9.196	0.37228	0.3998:0.0:0.6002:0.0	.	379;379	Q00610;Q00610-2	CLH1_HUMAN;.	D	379	ENSP00000269122:E379D;ENSP00000376763:E379D	ENSP00000269122:E379D	E	+	3	2	CLTC	55092701	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.160000	0.31761	0.178000	0.19917	-0.218000	0.12543	GAG	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.388	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	protein_coding	OTTHUMT00000258859.1	G	NM_004859	-		57737919	1	no_errors	ENST00000269122	ensembl	human	known	74_37	missense	SNP	0.997	T	T	57737919	G	T	57737919	3	4	43	1	0	0	0	0	1	0	0	0	3568	991	35	3	1163	3	CLTC	17	57737919	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09	30825287	57737919	23457291	52	2567											
TMC6	11322	genome.wustl.edu	37	chr17	76113990	76113990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagccagggccggcgcggCgcctggcagttggccagaag	18	14	0	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr17:76113990C>T	ENST00000590602.1	-	16	2073	c.1914G>A	c.(1912-1914)gcG>gcA	p.A638A	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Silent_p.A638A|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Silent_p.A217A|TMC6_ENST00000392467.3_Silent_p.A638A|TMC6_ENST00000322933.4_Silent_p.A217A			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	638					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCGGCGCGGCGCCTGGCAGT	0.682																																																	0								ENSG00000141524						26	24	25					17																	76113990		2199	4295	6494	TMC6	SO:0001819	synonymous_variant	0			-	HGNC	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1914G>A	17.37:g.76113990C>T		Somatic	0	22	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	46.67	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	26	0	0	26	35.00	14	pfam_TMC	p.A638	ENST00000590602.1	37	c.1914	CCDS32748.1	17																																																																																			-	pfam_TMC		0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	protein_coding	OTTHUMT00000437146.1	C		-		76113990	-1	no_errors	ENST00000322914	ensembl	human	known	74_37	silent	SNP	0.558	T	T	76113990	C	T	76113990	2	4	43	1	0	0	0	0	0	0	0	1	15996	755	27	1		1	TMC6	17	76113990	Silent	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	18376071	76113990	5081220	53	2568											
BCR	613	genome.wustl.edu	37	chr22	23626245	23626245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccacgtcttcctgttcaccGacctgcttctctgcaccaag	7	17	3	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr22:23626245G>T	ENST00000305877.8	+	9	2948	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	BCR_ENST00000359540.3_Missense_Mutation_p.D733Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	733	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.			D -> E (in Ref. 4; CAA26441). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCTGTTCACCGACCTGCTTCT	0.637			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0								ENSG00000186716						42	37	39					22																	23626245		2203	4300	6503	BCR	SO:0001583	missense	0			-	HGNC		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2197G>T	22.37:g.23626245G>T	ENSP00000303507:p.Asp733Tyr	Somatic	0	68	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	43	43.42	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	21	4.55	1	33	29.79	14	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.D733Y	ENST00000305877.8	37	c.2197	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790092	0.50102	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.37411	1.2;1.2;2.61	5.64	4.63	0.57726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.84948	2.725	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	0.70916	-0.4742	10	0.87932	D	0	.	13.9834	0.64319	0.0727:0.0:0.9273:0.0	.	322;398;351;733;733	B4E065;Q12843;Q12844;P11274-2;P11274	.;.;.;.;BCR_HUMAN	Y	733;733;398;217	ENSP00000303507:D733Y;ENSP00000352535:D733Y;ENSP00000396531:D217Y	ENSP00000303507:D733Y	D	+	1	0	BCR	21956245	1.000000	0.71417	0.892000	0.35008	0.037000	0.13140	7.742000	0.85008	1.546000	0.49388	-0.136000	0.14681	GAC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.637	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	protein_coding	OTTHUMT00000075819.1	G	NM_004327	-		23626245	1	no_errors	ENST00000305877	ensembl	human	known	74_37	missense	SNP	0.997	T	T	23626245	G	T	23626245	3	4	43	1	0	0	0	0	1	0	0	0	1388	1058	37	3	2231	3	BCR	22	23626245	Missense_Mutation	SNP	G	TCGA-DX-A3LY-01B-11D-A27P-09		23626245	27678321	54	2569											
SEZ6L	23544	genome.wustl.edu	37	chr22	26747191	26747191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcccatctggacgtctCgcctgccccactgcgtttgt	10	16	2	0			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chr22:26747191C>T	ENST00000248933.6	+	12	2676	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R58C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R634C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R861C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R634C|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R861C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R861C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	861	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGGACGTCTCGCCTGCCCCA	0.532																																																	0								ENSG00000100095						112	97	102					22																	26747191		2203	4300	6503	SEZ6L	SO:0001583	missense	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2581C>T	22.37:g.26747191C>T	ENSP00000248933:p.Arg861Cys	Somatic	1	99	1		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	66	39.45	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	31	0	0	21	56.25	27	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R861C	ENST00000248933.6	37	c.2581	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	c	19.37	3.815475	0.70912	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.51477	D	0.000083	T	0.75384	0.3842	M	0.79258	2.445	0.52099	D	0.999941	D;D;D;D;D;D	0.71674	0.989;0.991;0.995;0.998;0.98;0.991	P;P;P;P;P;P	0.62382	0.807;0.81;0.901;0.785;0.81;0.81	T	0.78841	-0.2045	10	0.87932	D	0	.	11.711	0.51625	0.1765:0.8235:0.0:0.0	.	861;861;634;861;861;861	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	C	861;861;861;861;634;634;58	ENSP00000384772:R861C;ENSP00000437037:R861C;ENSP00000248933:R861C;ENSP00000342661:R861C;ENSP00000384838:R634C;ENSP00000384733:R634C;ENSP00000397274:R58C	ENSP00000248933:R861C	R	+	1	0	SEZ6L	25077191	0.776000	0.28616	0.967000	0.41034	0.985000	0.73830	1.406000	0.34646	2.381000	0.81170	0.539000	0.68188	CGC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.532	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		-		26747191	1	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	SNP	0.956	T	T	26747191	C	T	26747191	3	4	43	1	0	0	0	0	1	0	0	0	14151	884	31	1	2627	1	SEZ6L	22	26747191	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	3120946	26747191	24557375	55	2570											
ZDHHC15	158866	genome.wustl.edu	37	chrX	74641738	74641738	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	accagaacttcttcttatctCcaaacacctgctggatattc	4	13	3	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chrX:74641738C>G	ENST00000373367.3	-	9	1054	c.824G>C	c.(823-825)gGa>gCa	p.G275A	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.G266A	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	275					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTTCTTATCTCCAAACACCTG	0.448																																																	0								ENSG00000102383						117	103	108					X																	74641738		2203	4300	6503	ZDHHC15	SO:0001583	missense	0			-	HGNC	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.824G>C	X.37:g.74641738C>G	ENSP00000362465:p.Gly275Ala	Somatic	0	31	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	23	0	0	17	46.88	15	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.G275A	ENST00000373367.3	37	c.824	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	c	25.4	4.631510	0.87660	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.60548	0.18;0.4	5.44	5.44	0.79542	.	0.106577	0.64402	D	0.000003	T	0.81969	0.4935	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86288	0.1672	10	0.62326	D	0.03	-16.0683	17.2382	0.87005	0.0:1.0:0.0:0.0	.	266;275	B3KVG7;Q96MV8	.;ZDH15_HUMAN	A	275;266	ENSP00000362465:G275A;ENSP00000445420:G266A	ENSP00000362465:G275A	G	-	2	0	ZDHHC15	74558463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.317000	0.79018	2.282000	0.76494	0.597000	0.82753	GGA	-	NULL		0.448	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	protein_coding	OTTHUMT00000057283.1	C	NM_144969	-		74641738	-1	no_errors	ENST00000373367	ensembl	human	known	74_37	missense	SNP	1.000	G	G	74641738	C	G	74641738	3	3	43	1	0	0	0	0	1	0	0	0	17612	855	30	4	201	4	ZDHHC15	23	74641738	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09		74641738	80628822	56	2571											
RPL36A	6173	genome.wustl.edu	37	chrX	100646802	100646802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaactaagccgattttcCggaaaaaggtgagtggtagt	13	6	0	1			TCGA-DX-A3LY-01B-11D-A27P-09	TCGA-DX-A3LY-10B-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4366c4-170f-4233-b577-a8ea277b069c	f1611d3f-a7d1-42ab-b07c-27d0ce090948	g.chrX:100646802C>T	ENST00000553110.3	+	3	253	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RPL36A_ENST00000427805.2_Missense_Mutation_p.R93W|RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.S67S|RPL36A_ENST00000471855.1_5'UTR			P83881	RL36A_HUMAN	ribosomal protein L36a	57					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)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						GCCGATTTTCCGGAAAAAGGT	0.413																																																	0								ENSG00000241343						190	156	167					X																	100646802		2203	4300	6503	RPL36A	SO:0001583	missense	0			-	HGNC	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.169C>T	X.37:g.100646802C>T	ENSP00000446503:p.Arg57Trp	Somatic	0	24	0		0.682401959957052				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	9	64.00	P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	18	0	0	6	64.71	11	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd	p.R93W	ENST00000553110.3	37	c.277		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.715346|2.715346	0.48622|0.48622	.|.	.|.	ENSG00000241343|ENSG00000241343;ENSG00000241343;ENSG00000257529	ENST00000392994|ENST00000427805;ENST00000553110;ENST00000409338	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	5.85|5.85	1.79|1.79	0.24919|0.24919	.|Ribosomal protein, zinc-binding domain (1);	.|0.000000	.|0.56097	.|U	.|0.000031	T|T	0.53530|0.53530	0.1802|0.1802	M|M	0.86953|0.86953	2.85|2.85	0.33858|0.33858	D|D	0.63341|0.63341	.|B;B	.|0.13594	.|0.001;0.008	.|B;B	.|0.15870	.|0.001;0.014	T|T	0.63287|0.63287	-0.6671|-0.6671	5|10	.|0.48119	.|T	.|0.1	-18.2697|-18.2697	15.1464|15.1464	0.72657|0.72657	0.6132:0.3868:0.0:0.0|0.6132:0.3868:0.0:0.0	.|.	.|57;57	.|P83881;B2REA7	.|RL36A_HUMAN;.	L|W	75|93;57;68	.|ENSP00000404375:R93W;ENSP00000446503:R57W;ENSP00000386974:R68W	.|ENSP00000386974:R68W	P|R	+|+	2|1	0|2	RPL36A|RPL36A;RP1-164F3.9	100533458|100533458	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.979000|0.979000	0.70002|0.70002	1.239000|1.239000	0.32719|0.32719	0.187000|0.187000	0.20147|0.20147	0.468000|0.468000	0.43344|0.43344	CCG|CGG	-	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd		0.413	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	RPL36A	protein_coding		C	NM_021029	-		100646802	1	no_errors	ENST00000427805	ensembl	human	known	74_37	missense	SNP	0.999	T	T	100646802	C	T	100646802	3	4	43	1	0	0	0	0	1	0	0	0	13595	643	23	1	179	1	RPL36A	23	100646802	Missense_Mutation	SNP	C	TCGA-DX-A3LY-01B-11D-A27P-09	26005064	100646802	54623758	57	2572											
ZNF683	257101	genome.wustl.edu	37	chr1	26691499	26691499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggagctccttggagatggAgttgacagggggacaggggc	20	6	0	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr1:26691499A>T	ENST00000436292.1	-	4	658	c.538T>A	c.(538-540)Tcc>Acc	p.S180T	ZNF683_ENST00000374204.1_Missense_Mutation_p.S180T|ZNF683_ENST00000349618.3_Missense_Mutation_p.S180T|ZNF683_ENST00000403843.1_Missense_Mutation_p.S180T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	180					natural killer cell differentiation (GO:0001779)|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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TTGGAGATGGAGTTGACAGGG	0.597																																																	0								ENSG00000176083						50	52	52					1																	26691499		2203	4300	6503	ZNF683	SO:0001583	missense	0			-	HGNC	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.538T>A	1.37:g.26691499A>T	ENSP00000388792:p.Ser180Thr	Somatic	0	65	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	33	0	0	29	40.82	20	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S180T	ENST00000436292.1	37	c.538		1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432967	0.25813	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T	0.30981	3.08;3.08;3.0;3.0;2.22;2.22;1.51;1.87;1.88	4.71	0.558	0.17266	.	0.736185	0.11764	N	0.531839	T	0.13798	0.0334	N	0.14661	0.345	0.09310	N	1	B;B	0.29805	0.257;0.167	B;B	0.29077	0.098;0.045	T	0.31052	-0.9957	10	0.15499	T	0.54	-2.2335	4.109	0.10050	0.3047:0.1727:0.5225:0.0	.	180;180	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	T	180;180;180;180;188;180;130;188;180	ENSP00000384782:S180T;ENSP00000388792:S180T;ENSP00000363320:S180T;ENSP00000344095:S180T;ENSP00000411289:S188T;ENSP00000411290:S180T;ENSP00000412881:S130T;ENSP00000391584:S188T;ENSP00000401961:S180T	ENSP00000344095:S180T	S	-	1	0	ZNF683	26564086	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.143000	0.10296	-0.048000	0.13401	-0.366000	0.07423	TCC	-	NULL		0.597	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	protein_coding	OTTHUMT00000009794.2	A	NM_173574	-		26691499	-1	no_errors	ENST00000403843	ensembl	human	known	74_37	missense	SNP	0.043	T	T	26691499	A	T	26691499	3	4	44	1	0	0	0	0	1	0	0	0	18097	304	11	5	988	5	ZNF683	1	26691499	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09		26691499	222559122	1	2573											
GRIK3	2899	genome.wustl.edu	37	chr1	37271806	37271806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgatggtggtggactccAtgagcagcgcgtagtcggcc	15	11	0	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr1:37271806A>G	ENST00000373091.3	-	14	2229	c.2213T>C	c.(2212-2214)aTg>aCg	p.M738T	GRIK3_ENST00000373093.4_Missense_Mutation_p.M738T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	738					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)			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)				GGTGGACTCCATGAGCAGCGC	0.617																																																	0								ENSG00000163873						180	134	150					1																	37271806		2203	4300	6503	GRIK3	SO:0001583	missense	0			-	HGNC	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.2213T>C	1.37:g.37271806A>G	ENSP00000362183:p.Met738Thr	Somatic	0	121	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	63	39.05	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	39	0	0	42	34.38	22	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M738T	ENST00000373091.3	37	c.2213	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274523	0.80580	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.10573	2.86;2.86	5.48	5.48	0.80851	Ionotropic glutamate receptor (2);	0.100954	0.64402	D	0.000003	T	0.17577	0.0422	L	0.47190	1.495	0.80722	D	1	B;B	0.29037	0.231;0.231	B;B	0.39706	0.307;0.307	T	0.02705	-1.1121	10	0.87932	D	0	.	15.5527	0.76167	1.0:0.0:0.0:0.0	.	738;738	A9Z1Z8;Q13003	.;GRIK3_HUMAN	T	738	ENSP00000362183:M738T;ENSP00000362185:M738T	ENSP00000362183:M738T	M	-	2	0	GRIK3	37044393	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.197000	0.72100	2.074000	0.62210	0.448000	0.29417	ATG	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.617	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	A	NM_000831	-		37271806	-1	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	SNP	1.000	G	G	37271806	A	G	37271806	3	3	44	1	0	0	0	0	1	0	0	0	6777	217	8	5	558	5	GRIK3	1	37271806	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09	10580307	37271806	211978815	2	2574											
DNASE2B	58511	genome.wustl.edu	37	chr1	84878060	84878060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggtctgcaaccccaaCgtctatagctgctccatccc	6	17	3	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr1:84878060C>T	ENST00000370665.3	+	5	609	c.576C>T	c.(574-576)aaC>aaT	p.N192N	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	192					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCAACCCCAACGTCTATAGCT	0.478																																					Pancreas(54;788 1175 11852 16034 30034)												0								ENSG00000137976						81	82	82					1																	84878060		2203	4300	6503	DNASE2B	SO:0001819	synonymous_variant	0			-	HGNC	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.576C>T	1.37:g.84878060C>T		Somatic	0	31	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	25	0	0	37	43.08	28	pfam_DNase_II	p.N192	ENST00000370665.3	37	c.576	CCDS44167.1	1																																																																																			-	pfam_DNase_II		0.478	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNASE2B	protein_coding	OTTHUMT00000027248.1	C	NM_021233	-		84878060	1	no_errors	ENST00000370665	ensembl	human	known	74_37	silent	SNP	0.030	T	T	84878060	C	T	84878060	2	4	44	1	0	0	0	0	0	0	0	1	4667	535	19	1		1	DNASE2B	1	84878060	Silent	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	47606254	84878060	164372561	3	2575											
IGSF3	3321	genome.wustl.edu	37	chr1	117122058	117122058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctgactcctcctccGtcagccggtaccattccttc	10	16	1	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr1:117122058G>A	ENST00000369486.3	-	10	4055	c.3290C>T	c.(3289-3291)aCg>aTg	p.T1097M	IGSF3_ENST00000318837.6_Missense_Mutation_p.T1117M|IGSF3_ENST00000369483.1_Missense_Mutation_p.T1117M	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1097	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCTCCTCCGTCAGCCGGTA	0.567																																																	0								ENSG00000143061						56	57	57					1																	117122058		2203	4300	6503	IGSF3	SO:0001583	missense	0			-	HGNC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3290C>T	1.37:g.117122058G>A	ENSP00000358498:p.Thr1097Met	Somatic	0	54	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	53.49	A6NJZ6|A6NMC7	Missense_Mutation	SNP	36	0	0	27	48.08	25	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.T1117M	ENST00000369486.3	37	c.3350	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311492	0.40895	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03496	3.91;3.92;3.92	4.61	3.7	0.42460	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.210282	0.42548	D	0.000685	T	0.03178	0.0093	L	0.36672	1.1	0.37236	D	0.905897	D;D	0.67145	0.996;0.996	P;P	0.53689	0.732;0.655	T	0.48163	-0.9059	10	0.72032	D	0.01	-5.5263	10.5599	0.45140	0.0952:0.0:0.9048:0.0	.	1097;1117	O75054;A6NJZ6	IGSF3_HUMAN;.	M	1097;1117;1117	ENSP00000358498:T1097M;ENSP00000358495:T1117M;ENSP00000321184:T1117M	ENSP00000321184:T1117M	T	-	2	0	IGSF3	116923581	1.000000	0.71417	0.617000	0.29091	0.164000	0.22412	6.598000	0.74122	1.154000	0.42482	0.462000	0.41574	ACG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.567	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	protein_coding	OTTHUMT00000059040.1	G	NM_001542	-		117122058	-1	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	SNP	0.983	A	A	117122058	G	A	117122058	3	1	44	1	0	0	0	0	1	0	0	0	7603	1145	40	1	302	1	IGSF3	1	117122058	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	32243998	117122058	132128563	4	2576											
KPRP	448834	genome.wustl.edu	37	chr1	152732093	152732093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagcagatccagtgccGcctgccgctccaacagtgct	10	17	0	1	rs77368440		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr1:152732093G>A	ENST00000606109.1	+	1	57	c.29G>A	c.(28-30)cGc>cAc	p.R10H	KPRP_ENST00000368773.1_Missense_Mutation_p.R10H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	10	Gln-rich.					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)			ATCCAGTGCCGCCTGCCGCTC	0.592																																																	0								ENSG00000203786	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	62	62		29	3.7	0.4	1	dbSNP_131	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPRP	NM_001025231.1	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	10/580	152732093	2,13004	2203	4300	6503	KPRP	SO:0001583	missense	0			-	HGNC	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.29G>A	1.37:g.152732093G>A	ENSP00000475216:p.Arg10His	Somatic	0	89	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	12.70		Missense_Mutation	SNP	36	0	0	31	31.11	14	NULL	p.R10H	ENST00000606109.1	37	c.29	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167358	0.21621	2.27E-4	1.16E-4	ENSG00000203786	ENST00000368773	T	0.11821	2.74	5.54	3.66	0.41972	.	0.577262	0.15899	N	0.239152	T	0.02230	0.0069	N	0.08118	0	0.09310	N	0.999994	B	0.09022	0.002	B	0.04013	0.001	T	0.42582	-0.9443	10	0.56958	D	0.05	-2.0206	8.2067	0.31458	0.0844:0.157:0.7586:0.0	.	10	Q5T749	KPRP_HUMAN	H	10	ENSP00000357762:R10H	ENSP00000357762:R10H	R	+	2	0	KPRP	150998717	0.003000	0.15002	0.358000	0.25811	0.697000	0.40408	0.027000	0.13621	0.827000	0.34685	0.655000	0.94253	CGC	-	NULL		0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	G	NM_001025231	-		152732093	1	no_errors	ENST00000368773	ensembl	human	known	74_37	missense	SNP	0.849	A	A	152732093	G	A	152732093	3	1	44	1	0	0	0	0	1	0	0	0	8438	1087	38	1	31	1	KPRP	1	152732093	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	35610035	152732093	96518528	5	2577											
SLC30A6	55676	genome.wustl.edu	37	chr2	32417472	32417472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagttgggagctctctttAtattaaaagaaaggtacatt	8	6	1	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr2:32417472A>C	ENST00000282587.5	+	6	389	c.352A>C	c.(352-354)Ata>Cta	p.I118L	SLC30A6_ENST00000538303.1_Missense_Mutation_p.I89L|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Missense_Mutation_p.I44L|SLC30A6_ENST00000379343.2_Missense_Mutation_p.I158L|SLC30A6_ENST00000435660.1_Missense_Mutation_p.I118L	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	118					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)			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)					AGCTCTCTTTATATTAAAAGA	0.378																																																	0								ENSG00000152683						90	90	90					2																	32417472		2203	4300	6503	SLC30A6	SO:0001583	missense	0			-	HGNC	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.352A>C	2.37:g.32417472A>C	ENSP00000282587:p.Ile118Leu	Somatic	0	60	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	32	0	0	39	43.48	30	pfam_Cation_efflux,tigrfam_Cation_efflux	p.I118L	ENST00000282587.5	37	c.352	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	A	14.55	2.570030	0.45798	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000406369	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.66	5.66	0.87406	.	0.088458	0.85682	D	0.000000	T	0.49508	0.1561	N	0.21240	0.645	0.80722	D	1	B;B;B;B	0.12013	0.001;0.004;0.001;0.005	B;B;B;B	0.15484	0.013;0.006;0.008;0.013	T	0.41466	-0.9507	10	0.34782	T	0.22	-9.6286	15.1835	0.72978	1.0:0.0:0.0:0.0	.	89;118;158;118	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	L	158;89;118;118;89;44	ENSP00000368648:I158L;ENSP00000393946:I89L;ENSP00000282587:I118L;ENSP00000399005:I118L;ENSP00000440678:I89L;ENSP00000384041:I44L	ENSP00000282587:I118L	I	+	1	0	SLC30A6	32270976	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.008000	0.76341	2.285000	0.76669	0.533000	0.62120	ATA	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.378	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	protein_coding	OTTHUMT00000250254.2	A		-		32417472	1	no_errors	ENST00000282587	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32417472	A	C	32417472	3	2	44	1	0	0	0	0	1	0	0	0	14567	449	16	5	374	5	SLC30A6	2	32417472	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09		32417472	210781901	6	2578											
MAP4K4	9448	genome.wustl.edu	37	chr2	102493602	102493602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaatgtcttggtgacaAtatctggtgagtgtttgttt	12	4	2	3			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr2:102493602A>G	ENST00000347699.4	+	24	2944	c.2944A>G	c.(2944-2946)Ata>Gta	p.I982V	MAP4K4_ENST00000413150.2_Missense_Mutation_p.I897V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.I781V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I1022V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I1015V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.I785V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I1063V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I901V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	982	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGGTGACAATATCTGGTGA	0.408																																																	0								ENSG00000071054						170	163	165					2																	102493602		1963	4155	6118	MAP4K4	SO:0001583	missense	0			-	HGNC	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2944A>G	2.37:g.102493602A>G	ENSP00000314363:p.Ile982Val	Somatic	0	95	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	O75172|Q9NST7	Missense_Mutation	SNP	51	0	0	39	25.00	13	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I1063V	ENST00000347699.4	37	c.3187	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.514416|4.514416	0.85389|0.85389	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.06528|.	3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Citron-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77082|0.77082	0.4078|0.4078	M|M	0.80508|0.80508	2.5|2.5	0.80722|0.80722	D|D	1|1	P;P;P;D;P;P;B;P;D;D|.	0.89917|.	0.856;0.699;0.937;0.984;0.65;0.768;0.21;0.65;1.0;0.96|.	P;P;D;D;P;P;B;P;D;D|.	0.87578|.	0.881;0.833;0.921;0.986;0.743;0.627;0.345;0.743;0.998;0.931|.	T|T	0.78661|0.78661	-0.2117|-0.2117	10|5	0.87932|.	D|.	0|.	.|.	15.8622|15.8622	0.79035|0.79035	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1022;978;781;785;900;982;1015;901;954;1063|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	V|S	1015;1063;901;785;897;781;982;913;1022|798	ENSP00000392830:I1015V;ENSP00000313644:I1063V;ENSP00000281111:I901V;ENSP00000303600:I785V;ENSP00000389752:I897V;ENSP00000387370:I781V;ENSP00000314363:I982V;ENSP00000409720:I913V;ENSP00000343658:I1022V|.	ENSP00000303600:I785V|.	I|N	+|+	1|2	0|0	MAP4K4|MAP4K4	101860034|101860034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.287000|9.287000	0.95975|0.95975	2.194000|2.194000	0.70268|0.70268	0.533000|0.533000	0.62120|0.62120	ATA|AAT	-	pfam_Citron,smart_Citron		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	protein_coding	OTTHUMT00000339839.1	A	NM_004834	-		102493602	1	no_errors	ENST00000324219	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102493602	A	G	102493602	3	3	44	1	0	0	0	0	1	0	0	0	9264	101	4	5	3289	5	MAP4K4	2	102493602	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09	70076130	102493602	140705771	7	2579											
SCN1A	6323	genome.wustl.edu	37	chr2	166912969	166912969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcattgtcataaacacaCagtttgtcaaaatagtgcac	5	9	3	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr2:166912969C>T	ENST00000303395.4	-	3	424	c.425G>A	c.(424-426)tGt>tAt	p.C142Y	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.C142Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.C142Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.C142Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	142					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)	CATAAACACACAGTTTGTCAA	0.289																																																	0								ENSG00000144285						106	106	106					2																	166912969		2203	4300	6503	SCN1A	SO:0001583	missense	0			-	HGNC	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.425G>A	2.37:g.166912969C>T	ENSP00000303540:p.Cys142Tyr	Somatic	0	46	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	7	65.00	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	24	0	0	21	63.16	36	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.C142Y	ENST00000303395.4	37	c.425	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654605	0.88056	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.97186	3.955	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.80764	0.959;0.939;0.994	D	0.99041	1.0824	10	0.87932	D	0	.	20.1115	0.97913	0.0:1.0:0.0:0.0	.	142;142;142	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	142	ENSP00000407030:C142Y;ENSP00000303540:C142Y;ENSP00000364554:C142Y;ENSP00000386312:C142Y	ENSP00000303540:C142Y	C	-	2	0	SCN1A	166621215	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.648000	0.83479	2.814000	0.96858	0.655000	0.94253	TGT	-	NULL		0.289	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920	-		166912969	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166912969	C	T	166912969	3	4	44	1	0	0	0	0	1	0	0	0	13922	478	17	2	5700	2	SCN1A	2	166912969	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	64419367	166912969	76286404	8	2580											
DNAJB3	54578	genome.wustl.edu	37	chr2	234652338	234652338	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgccgcctgtgcagccGccctccgcccccgcctcgcc	11	24	0	0	rs184388078		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr2:234652338G>A	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000609767.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CTGTGCAGCCGCCCTCCGCCC	0.652													G|||	1	0.000199681	0	0	5008	,	,		14629	0.001		0	False		,,,				2504	0																0								ENSG00000227802	G	,,,,,,,,,	0,4006		0,0,2003	79	92	88		225,,,,,,,,,	-5.4	0	2		88	3,8325		0,3,4161	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3,DNAJB3	NM_001001394.3,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,,	0,3,6164	AA,AG,GG		0.036,0.0,0.0243	,,,,,,,,,	75/146,,,,,,,,,	234652338	3,12331	2003	4164	6167	DNAJB3	SO:0001627	intron_variant	0			GMAF=0.0005	HGNC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23342G>A	2.37:g.234652338G>A		Somatic	0	105	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	13	68.09	A6NKK6|B8K289|Q96TE7	RNA	SNP	45	0	0	6	81.25	26	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			-	-		0.652	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	protein_coding	OTTHUMT00000130988.1	G	NM_205862	rs184388078		234652338	-1	no_errors	ENST00000449667	ensembl	human	known	74_37	rna	SNP	0.000	A	A	234652338	G	A	234652338	1	1	44	0	1	0	0	0	0	0	0	0	4623	1074	38	1		1	DNAJB3	2	234652338	Intron	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	67739369	234652338	8547035	9	2581											
IL17RC	84818	genome.wustl.edu	37	chr3	9972614	9972614	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggagcgctatgggcctgCcccatggacaaatgtgagta	14	9	0	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr3:9972614C>A	ENST00000295981.3	+	16	1805	c.1587C>A	c.(1585-1587)tgC>tgA	p.C529*	CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000413608.1_Nonsense_Mutation_p.C458*|CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000383812.4_Nonsense_Mutation_p.C443*|IL17RC_ENST00000455057.1_Nonsense_Mutation_p.C426*|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000403601.3_Nonsense_Mutation_p.C458*|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_Nonsense_Mutation_p.C297*	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	529					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATGGGCCTGCCCCATGGACA	0.507																																																	0								ENSG00000163702						285	266	272					3																	9972614		2203	4300	6503	IL17RC	SO:0001587	stop_gained	0			-	HGNC	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1587C>A	3.37:g.9972614C>A	ENSP00000295981:p.Cys529*	Somatic	0	51	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Nonsense_Mutation	SNP	39	0	0	38	26.92	14	pfam_SEFIR	p.C529*	ENST00000295981.3	37	c.1587	CCDS2590.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.098638	0.98063	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	.	.	.	4.55	2.75	0.32379	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9941	7.7129	0.28688	0.0:0.8024:0.0:0.1976	.	.	.	.	X	443;529;458;297;426;458	.	ENSP00000295981:C529X	C	+	3	2	IL17RC	9947614	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	0.880000	0.28159	0.623000	0.30267	0.462000	0.41574	TGC	-	NULL		0.507	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	protein_coding	OTTHUMT00000250526.2	C	NM_032732	-		9972614	1	no_errors	ENST00000295981	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	9972614	C	A	9972614	4	1	44	1	0	0	0	0	0	1	0	0	7643	747	26	3	1649	3	IL17RC	3	9972614	Nonsense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09		9972614	188049816	10	2582											
SCN5A	6331	genome.wustl.edu	37	chr3	38601888	38601888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacgttcatgatggacGggatggcgcccaccagggca	17	10	1	1	rs199473225		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr3:38601888G>A	ENST00000333535.4	-	23	4144	c.3995C>T	c.(3994-3996)cCg>cTg	p.P1332L	SCN5A_ENST00000414099.2_Missense_Mutation_p.P1332L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1331L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1331L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1332L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1278L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1278L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1278L|SCN5A_ENST00000413689.1_Missense_Mutation_p.P1332L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1331L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1332			P -> L (in LQT3).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATGATGGACGGGATGGCGCC	0.577																																																	0			GRCh37	CM043869	SCN5A	M		ENSG00000183873						89	85	87					3																	38601888		2203	4300	6503	SCN5A	SO:0001583	missense	0			-	HGNC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3995C>T	3.37:g.38601888G>A	ENSP00000328968:p.Pro1332Leu	Somatic	0	45	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	40	0	0	57	17.39	12	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.P1332L	ENST00000333535.4	37	c.3995	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805716	0.90623	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	4.25	4.25	0.50352	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.95402	3.665	0.80722	D	1	D;D;D;D;D;D;P	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;0.931	D;D;D;D;D;D;P	0.97110	0.957;1.0;0.997;0.998;0.99;1.0;0.518	D	0.99474	1.0946	10	0.87932	D	0	.	17.2234	0.86963	0.0:0.0:1.0:0.0	.	1278;1331;1332;1332;1332;1331;1332	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	L	1332;1331;1332;1278;1331;1332;1332;1331;1278;1278	ENSP00000398962:P1332L;ENSP00000398266:P1331L;ENSP00000410257:P1332L;ENSP00000388797:P1278L;ENSP00000397915:P1331L;ENSP00000416634:P1332L;ENSP00000328968:P1332L;ENSP00000399524:P1331L;ENSP00000403355:P1278L;ENSP00000413996:P1278L	ENSP00000328968:P1332L	P	-	2	0	SCN5A	38576892	1.000000	0.71417	0.946000	0.38457	0.998000	0.95712	9.564000	0.98151	2.355000	0.79922	0.655000	0.94253	CCG	-	pfam_Ion_trans_dom		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	G	NM_198056	rs199473225		38601888	-1	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38601888	G	A	38601888	3	1	44	1	0	0	0	0	1	0	0	0	13930	1116	39	1	2079	1	SCN5A	3	38601888	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	28629274	38601888	159420542	11	2583											
COL7A1	1294	genome.wustl.edu	37	chr3	48603732	48603732	+	Frame_Shift_Del	DEL	C	C	-													tcatctcttggcgcacaaagCcccggatgtcatcctcctgg							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr3:48603732delC	ENST00000328333.8	-	113	8482	c.8375delG	c.(8374-8376)ggcfs	p.G2792fs	COL7A1_ENST00000470076.1_5'Flank|UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Frame_Shift_Del_p.G2760fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2792	Nonhelical region (NC2).				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)		GCGCACAAAGCCCCGGATGTC	0.597																																																	0			GRCh37	CD072388	COL7A1	D		ENSG00000114270						42	40	41					3																	48603732		2202	4300	6502	COL7A1	SO:0001589	frameshift_variant	0				HGNC	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.8375delG	3.37:g.48603732delC	ENSP00000332371:p.Gly2792fs	Somatic	0	37	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	35	38.60	Q14054|Q16507	Frame_Shift_Del	DEL	41	0	0	63	24.10	20	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G2792fs	ENST00000328333.8	37	c.8375	CCDS2773.1	3																																																																																			-	NULL		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	C	NM_000094			48603732	-1	no_errors	ENST00000328333	ensembl	human	known	74_37	frame_shift_del	DEL	0.596	-	-	48603732	C	-	48603732	7	5	44	1	0	1	0	1	0	0	0	0	3706	739	26	0	483	0	COL7A1	3	48603732	Frame_Shift_Del	DEL	C	TCGA-DX-A3M1-01A-11D-A228-09	10001844	48603732	149418698	12	2584											
CCNL1	57018	genome.wustl.edu	37	chr3	156867129	156867129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttcttgacctcgatcgActtgcacttctgctatttct	7	12	3	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr3:156867129A>C	ENST00000295926.3	-	10	1297	c.1179T>G	c.(1177-1179)agT>agG	p.S393R	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Missense_Mutation_p.S393R	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	393	RS.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ACCTCGATCGACTTGCACTTC	0.343																																																	0								ENSG00000163660						248	223	232					3																	156867129		2203	4300	6503	CCNL1	SO:0001583	missense	0			-	HGNC	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1179T>G	3.37:g.156867129A>C	ENSP00000295926:p.Ser393Arg	Somatic	0	68	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	27	0	0	24	51.02	25	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.S393R	ENST00000295926.3	37	c.1179	CCDS3178.1	3	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758054	0.69648	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	T;T	0.26518	1.73;2.17	5.68	2.01	0.26516	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	L	0.48642	1.525	0.80722	D	1	P;D	0.56521	0.845;0.976	B;P	0.46479	0.348;0.518	T	0.02893	-1.1097	10	0.22706	T	0.39	-20.7775	9.9402	0.41576	0.7362:0.0:0.2638:0.0	.	393;393	Q9UK58;C9JPL0	CCNL1_HUMAN;.	R	393	ENSP00000420277:S393R;ENSP00000295926:S393R	ENSP00000295926:S393R	S	-	3	2	CCNL1	158349823	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.247000	0.32815	0.452000	0.26830	0.533000	0.62120	AGT	-	pirsf_Cyclin_L		0.343	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	protein_coding	OTTHUMT00000351859.1	A	NM_020307	-		156867129	-1	no_errors	ENST00000295926	ensembl	human	known	74_37	missense	SNP	1.000	C	C	156867129	A	C	156867129	3	2	44	1	0	0	0	0	1	0	0	0	2933	272	10	5	409	5	CCNL1	3	156867129	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09	108263397	156867129	41155301	13	2585											
HHIP	64399	genome.wustl.edu	37	chr4	145573925	145573925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actattgcaaagaattctttTacacttgccgaggccatatt	6	9	1	1	rs199573517		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr4:145573925T>C	ENST00000296575.3	+	2	1103	c.448T>C	c.(448-450)Tac>Cac	p.Y150H	HHIP_ENST00000434550.2_Missense_Mutation_p.Y150H|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	150					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGAATTCTTTTACACTTGCCG	0.378																																																	0								ENSG00000164161						99	107	105					4																	145573925		2203	4300	6503	HHIP	SO:0001583	missense	0			-	HGNC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.448T>C	4.37:g.145573925T>C	ENSP00000296575:p.Tyr150His	Somatic	0	36	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	45	0	0	45	43.04	34	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.Y150H	ENST00000296575.3	37	c.448	CCDS3762.1	4	.	.	.	.	.	.	.	.	.	.	T	17.55	3.416550	0.62511	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.76448	-1.02;-1.02	5.83	4.66	0.58398	Folate receptor-like (1);	0.055575	0.85682	N	0.000000	T	0.79828	0.4513	L	0.50333	1.59	0.58432	D	0.999999	B;D	0.67145	0.018;0.996	B;P	0.58520	0.046;0.84	T	0.75181	-0.3408	10	0.17369	T	0.5	-18.6961	11.5715	0.50836	0.0:0.0693:0.0:0.9307	.	150;150	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	H	150	ENSP00000296575:Y150H;ENSP00000408587:Y150H	ENSP00000296575:Y150H	Y	+	1	0	HHIP	145793375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.043000	0.64208	1.049000	0.40321	0.533000	0.62120	TAC	-	pfam_Folate_rcpt-like		0.378	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	protein_coding	OTTHUMT00000364887.2	T		-		145573925	1	no_errors	ENST00000296575	ensembl	human	known	74_37	missense	SNP	1.000	C	C	145573925	T	C	145573925	3	2	44	1	0	0	0	0	1	0	0	0	7094	1754	61	5	454	5	HHIP	4	145573925	Missense_Mutation	SNP	T	TCGA-DX-A3M1-01A-11D-A228-09		145573925	45580351	14	2586											
PCDHB7	56129	genome.wustl.edu	37	chr5	140553993	140553993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactacgaggccctgcaggCgttcgagttccgcgtgggcg	17	12	0	0	rs373682476		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr5:140553993C>T	ENST00000231137.3	+	1	1751	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	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)	p.A526E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCAGGCGTTCGAGTTC	0.706																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000113212						63	69	67					5																	140553993		2203	4300	6503	PCDHB7	SO:0001583	missense	0			-	HGNC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1577C>T	5.37:g.140553993C>T	ENSP00000231137:p.Ala526Val	Somatic	0	180	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	134	20.24	A1L3Y8	Missense_Mutation	SNP	33	0	0	37	21.28	10	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A526V	ENST00000231137.3	37	c.1577	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	c	11.79	1.745104	0.30955	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.03181	4.02	4.34	3.39	0.38822	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.06280	0.0162	N	0.17312	0.475	0.09310	N	1	D	0.59767	0.986	P	0.59487	0.858	T	0.44590	-0.9318	9	0.40728	T	0.16	.	10.0871	0.42425	0.4003:0.5997:0.0:0.0	.	526	Q9Y5E2	PCDB7_HUMAN	V	526;309	ENSP00000231137:A526V	ENSP00000231137:A526V	A	+	2	0	PCDHB7	140534177	0.000000	0.05858	0.435000	0.26784	0.622000	0.37654	-0.132000	0.10467	2.112000	0.64535	0.552000	0.68991	GCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	protein_coding	OTTHUMT00000251803.2	C	NM_018940	-		140553993	1	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	SNP	0.030	T	T	140553993	C	T	140553993	3	4	44	1	0	0	0	0	1	0	0	0	11549	768	27	1	1579	1	PCDHB7	5	140553993	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09		140553993	40361267	15	2587											
C6orf165	154313	genome.wustl.edu	37	chr6	88125496	88125496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagagcatgtgctaaagaaGaattggaaagcctctaccgg	11	8	1	3			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr6:88125496G>C	ENST00000507897.1	+	5	459	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E126Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	126								p.E126*(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCTAAAGAAGAATTGGAAAG	0.438																																																	2	Substitution - Nonsense(2)	lung(2)						ENSG00000272514						115	116	115					6																	88125496		2203	4300	6503	C6ORF165	SO:0001583	missense	0			-	Uniprot_gn	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.376G>C	6.37:g.88125496G>C	ENSP00000426769:p.Glu126Gln	Somatic	0	49	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	7	74.07	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	43	0	0	4	89.47	34	pfam_DUF3508	p.E126Q	ENST00000507897.1	37	c.376	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672361	0.88348	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.29655	1.56;1.56	5.6	5.6	0.85130	.	0.110886	0.64402	D	0.000016	T	0.51126	0.1656	M	0.79475	2.455	0.49582	D	0.999809	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.974	T	0.45454	-0.9260	10	0.39692	T	0.17	.	19.2026	0.93717	0.0:0.0:1.0:0.0	.	126;126	Q8IYR0;E1P509	CF165_HUMAN;.	Q	126	ENSP00000358575:E126Q;ENSP00000422494:E126Q	ENSP00000358575:E126Q	E	+	1	0	C6orf165	88182215	1.000000	0.71417	0.964000	0.40570	0.877000	0.50540	8.650000	0.91073	2.640000	0.89533	0.585000	0.79938	GAA	-	NULL		0.438	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	protein_coding	OTTHUMT00000470406.1	G	NM_178823	-		88125496	1	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	SNP	1.000	C	C	88125496	G	C	88125496	3	2	44	1	0	0	0	0	1	0	0	0	2343	943	33	4	390	4	C6orf165	6	88125496	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		88125496	82989571	16	2588											
ZUFSP	221302	genome.wustl.edu	37	chr6	116973247	116973247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtaaccacaaccccaaCctttgtcgcctaaagatgaa	5	13	1	2	rs145316791		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr6:116973247C>T	ENST00000368576.3	-	6	1313	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_3'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	357							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACAACCCCAACCTTTGTCGCC	0.393																																																	0								ENSG00000153975						138	136	137					6																	116973247		2203	4300	6503	ZUFSP	SO:0001583	missense	0			-	HGNC	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1070G>A	6.37:g.116973247C>T	ENSP00000357565:p.Gly357Asp	Somatic	0	47	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	8	63.64	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	41	0	0	31	51.56	33	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G357D	ENST00000368576.3	37	c.1070	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.161684	0.94727	.	.	ENSG00000153975	ENST00000368576	D	0.82081	-1.57	5.54	5.54	0.83059	.	0.045838	0.85682	D	0.000000	D	0.92496	0.7617	M	0.91510	3.215	0.80722	D	1	D	0.67145	0.996	D	0.69654	0.965	D	0.93176	0.6570	10	0.72032	D	0.01	0.3691	19.8403	0.96679	0.0:1.0:0.0:0.0	.	357	Q96AP4	ZUFSP_HUMAN	D	357	ENSP00000357565:G357D	ENSP00000357565:G357D	G	-	2	0	ZUFSP	117079940	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.980000	0.76160	2.771000	0.95319	0.655000	0.94253	GGT	-	pfam_Peptidase_C78_UfSP1/2		0.393	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	protein_coding	OTTHUMT00000041961.1	C	NM_145062	-		116973247	-1	no_errors	ENST00000368576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116973247	C	T	116973247	3	4	44	1	0	0	0	0	1	0	0	0	18253	507	18	2	686	2	ZUFSP	6	116973247	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	28847751	116973247	54141820	17	2589											
MAP3K5	4217	genome.wustl.edu	37	chr6	137015432	137015432	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcaagagcttttgctctgtCaccagggagatttctcctaa	8	10	4	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr6:137015432C>T	ENST00000359015.4	-	7	1459	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	367					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTGCTCTGTCACCAGGGAGA	0.348																																																	0								ENSG00000197442						63	56	58					6																	137015432		2203	4300	6503	MAP3K5	SO:0001583	missense	0			-	HGNC	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1099G>A	6.37:g.137015432C>T	ENSP00000351908:p.Asp367Asn	Somatic	0	45	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	49	0	0	58	17.14	12	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D367N	ENST00000359015.4	37	c.1099	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.228993	0.95173	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.12879	2.64	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.997	T	0.27157	-1.0082	10	0.62326	D	0.03	.	20.109	0.97906	0.0:1.0:0.0:0.0	.	447;212;367	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	N	367;447	ENSP00000351908:D367N	ENSP00000351908:D367N	D	-	1	0	MAP3K5	137057125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.400000	0.79949	2.829000	0.97493	0.591000	0.81541	GAC	-	NULL		0.348	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	C		-		137015432	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137015432	C	T	137015432	3	4	44	1	0	0	0	0	1	0	0	0	9255	826	29	2	3121	2	MAP3K5	6	137015432	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	20042185	137015432	34099635	18	2590											
HECA	51696	genome.wustl.edu	37	chr6	139487930	139487930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggtgccgcagcctacGgtgcccgttcccccggtggc	15	16	0	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr6:139487930G>A	ENST00000367658.2	+	2	1066	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	261					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CGCAGCCTACGGTGCCCGTTC	0.682																																																	0								ENSG00000112406						15	18	17					6																	139487930		2203	4297	6500	HECA	SO:0001583	missense	0			-	HGNC	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.781G>A	6.37:g.139487930G>A	ENSP00000356630:p.Gly261Ser	Somatic	0	21	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	8	57.89		Missense_Mutation	SNP	30	0	0	19	51.28	20	superfamily_Glycoside_hydrolase_SF	p.G261S	ENST00000367658.2	37	c.781	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	7.780	0.709254	0.15239	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.2	4.33	0.51752	.	0.314021	0.38217	N	0.001770	T	0.15046	0.0363	N	0.14661	0.345	0.43259	D	0.995194	B	0.25809	0.135	B	0.19946	0.027	T	0.08027	-1.0742	9	0.15499	T	0.54	.	10.0585	0.42259	0.1518:0.0:0.8482:0.0	.	261	Q9UBI9	HDC_HUMAN	S	261	.	ENSP00000356630:G261S	G	+	1	0	HECA	139529623	1.000000	0.71417	0.407000	0.26434	0.021000	0.10359	2.196000	0.42686	1.437000	0.47472	0.655000	0.94253	GGT	-	NULL		0.682	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	protein_coding	OTTHUMT00000042456.1	G	NM_016217	-		139487930	1	no_errors	ENST00000367658	ensembl	human	known	74_37	missense	SNP	0.928	A	A	139487930	G	A	139487930	3	1	44	1	0	0	0	0	1	0	0	0	7040	1116	39	1	787	1	HECA	6	139487930	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	2472498	139487930	31627137	19	2591											
CALN1	83698	genome.wustl.edu	37	chr7	71571178	71571178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgatggccagctccacctCgcttggcatgtaccccaaag	10	14	0	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr7:71571178C>T	ENST00000329008.5	-	3	518	c.220G>A	c.(220-222)Gag>Aag	p.E74K	CALN1_ENST00000395276.2_Missense_Mutation_p.E74K|CALN1_ENST00000395275.2_Missense_Mutation_p.E116K|CALN1_ENST00000431984.1_Missense_Mutation_p.E74K|CALN1_ENST00000412588.1_Missense_Mutation_p.E116K|CALN1_ENST00000405452.2_Missense_Mutation_p.E74K	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	74	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGCTCCACCTCGCTTGGCATG	0.597																																																	0								ENSG00000183166						77	59	65					7																	71571178		2203	4300	6503	CALN1	SO:0001583	missense	0			-	HGNC	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.220G>A	7.37:g.71571178C>T	ENSP00000332498:p.Glu74Lys	Somatic	0	44	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	J3KQA7	Missense_Mutation	SNP	31	0	0	35	45.31	29	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E116K	ENST00000329008.5	37	c.346	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175195	0.78564	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.69	5.69	0.88448	EF-hand-like domain (1);	0.046735	0.85682	D	0.000000	T	0.69797	0.3151	L	0.45228	1.405	0.58432	D	0.999999	P;P	0.48089	0.905;0.905	P;P	0.44811	0.461;0.461	T	0.73591	-0.3934	10	0.72032	D	0.01	-24.4953	18.8514	0.92232	0.0:1.0:0.0:0.0	.	74;74	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	K	74;116;74;74;116;74;74	ENSP00000332498:E74K;ENSP00000378690:E116K;ENSP00000378691:E74K;ENSP00000410704:E74K;ENSP00000391882:E116K;ENSP00000384354:E74K;ENSP00000411806:E74K	ENSP00000332498:E74K	E	-	1	0	CALN1	71209114	1.000000	0.71417	0.963000	0.40424	0.595000	0.36748	7.474000	0.81024	2.713000	0.92767	0.644000	0.83932	GAG	-	pfscan_EF_hand_dom		0.597	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	protein_coding	OTTHUMT00000320044.2	C	NM_031468	-		71571178	-1	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71571178	C	T	71571178	3	4	44	1	0	0	0	0	1	0	0	0	2593	893	31	1	455	1	CALN1	7	71571178	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09		71571178	87567485	20	2592											
PCLO	27445	genome.wustl.edu	37	chr7	82581204	82581204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctgaagtcagatctactGctgtgtcagttccttcagaa	8	11	4	3			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr7:82581204G>T	ENST00000333891.9	-	5	9402	c.9065C>A	c.(9064-9066)gCa>gAa	p.A3022E	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A3022E	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						CAGATCTACTGCTGTGTCAGT	0.393																																																	0								ENSG00000186472						67	67	67					7																	82581204		1864	4109	5973	PCLO	SO:0001583	missense	0			-	HGNC	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.9065C>A	7.37:g.82581204G>T	ENSP00000334319:p.Ala3022Glu	Somatic	0	42	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04		Missense_Mutation	SNP	38	0	0	23	0.00	0	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A3022E	ENST00000333891.9	37	c.9065	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294579	0.40594	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.28255	1.62;1.62	5.84	5.84	0.93424	.	.	.	.	.	T	0.57710	0.2072	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57528	-0.7796	9	0.87932	D	0	.	20.1396	0.98055	0.0:0.0:1.0:0.0	.	3022;3022	Q9Y6V0-5;Q9Y6V0-6	.;.	E	2953;3022;3022	ENSP00000334319:A3022E;ENSP00000388393:A3022E	ENSP00000334319:A3022E	A	-	2	0	PCLO	82419140	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.785000	0.99042	2.756000	0.94617	0.557000	0.71058	GCA	-	NULL		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82581204	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82581204	G	T	82581204	3	4	44	1	0	0	0	0	1	0	0	0	11585	1319	46	3	6464	3	PCLO	7	82581204	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	11010026	82581204	76557459	21	2593											
COG5	10466	genome.wustl.edu	37	chr7	107002489	107002489	+	Frame_Shift_Del	DEL	C	C	-													taaacataccttaactatttCttcaatgaaacaaatgtgag							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr7:107002489delC	ENST00000347053.3	-	10	1158	c.1108delG	c.(1108-1110)gaafs	p.E370fs	COG5_ENST00000297135.3_Frame_Shift_Del_p.E370fs|COG5_ENST00000393603.2_Frame_Shift_Del_p.E370fs	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	370					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTAACTATTTCTTCAATGAAA	0.303																																																	0								ENSG00000164597						76	74	74					7																	107002489		2200	4299	6499	COG5	SO:0001589	frameshift_variant	0				HGNC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1108delG	7.37:g.107002489delC	ENSP00000334703:p.Glu370fs	Somatic	0	59	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Frame_Shift_Del	DEL	42	0	0	33	37.74	20	pfam_Cog5	p.E370fs	ENST00000347053.3	37	c.1108	CCDS5743.1	7																																																																																			-	NULL		0.303	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	protein_coding	OTTHUMT00000060216.4	C				107002489	-1	no_errors	ENST00000297135	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	107002489	C	-	107002489	7	5	44	1	0	1	0	1	0	0	0	0	3663	922	32	0	1530	0	COG5	7	107002489	Frame_Shift_Del	DEL	C	TCGA-DX-A3M1-01A-11D-A228-09	24421285	107002489	52136174	22	2594	39	2	1	34		3	2	35	N	C	6.80927e-05
COG5	10466	genome.wustl.edu	37	chr7	107002492	107002492	+	Frame_Shift_Del	DEL	C	C	-													acataccttaactatttcttCaatgaaacaaatgtgagaaa							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr7:107002492delC	ENST00000347053.3	-	10	1155	c.1105delG	c.(1105-1107)gaafs	p.E370fs	COG5_ENST00000297135.3_Frame_Shift_Del_p.E370fs|COG5_ENST00000393603.2_Frame_Shift_Del_p.E370fs	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	370					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ACTATTTCTTCAATGAAACAA	0.299																																																	0								ENSG00000164597						77	75	76					7																	107002492		2200	4298	6498	COG5	SO:0001589	frameshift_variant	0				HGNC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1105delG	7.37:g.107002492delC	ENSP00000334703:p.Glu370fs	Somatic	0	58	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Frame_Shift_Del	DEL	42	0	0	35	36.36	20	pfam_Cog5	p.E369fs	ENST00000347053.3	37	c.1105	CCDS5743.1	7																																																																																			-	NULL		0.299	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	protein_coding	OTTHUMT00000060216.4	C				107002492	-1	no_errors	ENST00000297135	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	107002492	C	-	107002492	7	5	44	1	0	1	0	1	0	0	0	0	3663	835	29	0	1533	0	COG5	7	107002492	Frame_Shift_Del	DEL	C	TCGA-DX-A3M1-01A-11D-A228-09	3	107002492	52136171	23	2595	39	2	1	34		3	2	35	N	C	6.80927e-05
COG5	10466	genome.wustl.edu	37	chr7	107002523	107002523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgtgagaaacaggatctctCttcttggccaatactttttg	8	8	3	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr7:107002523C>G	ENST00000347053.3	-	10	1124	c.1074G>C	c.(1072-1074)aaG>aaC	p.K358N	COG5_ENST00000297135.3_Missense_Mutation_p.K358N|COG5_ENST00000393603.2_Missense_Mutation_p.K358N	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	358					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAGGATCTCTCTTCTTGGCCA	0.308																																																	0								ENSG00000164597						87	84	85					7																	107002523		2201	4297	6498	COG5	SO:0001583	missense	0			-	HGNC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1074G>C	7.37:g.107002523C>G	ENSP00000334703:p.Lys358Asn	Somatic	0	63	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	37	0	0	37	32.73	18	pfam_Cog5	p.K358N	ENST00000347053.3	37	c.1074	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062920	0.76187	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.32515	1.45;1.45;1.45	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	M	0.88310	2.945	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.76071	0.973;0.987	T	0.62091	-0.6927	10	0.48119	T	0.1	-13.994	9.4378	0.38650	0.0:0.7955:0.0:0.2045	.	358;358	Q9UP83;Q9UP83-2	COG5_HUMAN;.	N	358	ENSP00000334703:K358N;ENSP00000297135:K358N;ENSP00000377228:K358N	ENSP00000297135:K358N	K	-	3	2	COG5	106789759	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.656000	0.24948	1.468000	0.48064	0.655000	0.94253	AAG	-	NULL		0.308	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	protein_coding	OTTHUMT00000060216.4	C		-		107002523	-1	no_errors	ENST00000297135	ensembl	human	known	74_37	missense	SNP	1.000	G	G	107002523	C	G	107002523	3	3	44	1	0	0	0	0	1	0	0	0	3663	912	32	4	1564	4	COG5	7	107002523	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	31	107002523	52136140	24	2596			1	34		3	2	35	N	C	6.80927e-05
LZTS1	11178	genome.wustl.edu	37	chr8	20110991	20110991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgtctggaggggcggGgtgcagctggtggctggcac	22	8	1	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr8:20110991G>C	ENST00000381569.1	-	3	808	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	LZTS1_ENST00000522290.1_Missense_Mutation_p.P151A|LZTS1_ENST00000265801.6_Missense_Mutation_p.P151A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	151					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)		GGAGGGGCGGGGTGCAGCTGG	0.672																																																	0								ENSG00000061337						21	21	21					8																	20110991		2201	4298	6499	LZTS1	SO:0001583	missense	0			-	HGNC	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.451C>G	8.37:g.20110991G>C	ENSP00000370981:p.Pro151Ala	Somatic	0	95	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	58	40.82	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	32	0	0	25	50.98	26	NULL	p.P151A	ENST00000381569.1	37	c.451	CCDS6015.1	8	.	.	.	.	.	.	.	.	.	.	G	3.437	-0.114808	0.06881	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.22134	2.3;2.3;1.97	5.79	4.9	0.64082	.	0.647894	0.16662	N	0.204726	T	0.12263	0.0298	N	0.14661	0.345	0.42913	D	0.994262	P;B	0.43662	0.814;0.029	B;B	0.38985	0.287;0.008	T	0.04255	-1.0965	10	0.06757	T	0.87	-25.5428	15.5009	0.75698	0.0:0.139:0.861:0.0	.	151;151	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	A	151	ENSP00000370981:P151A;ENSP00000265801:P151A;ENSP00000429263:P151A	ENSP00000265801:P151A	P	-	1	0	LZTS1	20155271	1.000000	0.71417	0.928000	0.36995	0.962000	0.63368	3.404000	0.52623	1.403000	0.46800	0.561000	0.74099	CCC	-	NULL		0.672	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	protein_coding	OTTHUMT00000214122.1	G	NM_021020	-		20110991	-1	no_errors	ENST00000265801	ensembl	human	known	74_37	missense	SNP	0.999	C	C	20110991	G	C	20110991	3	2	44	1	0	0	0	0	1	0	0	0	9140	1232	43	4	1347	4	LZTS1	8	20110991	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		20110991	126253031	25	2597											
UTP23	84294	genome.wustl.edu	37	chr8	117783742	117783742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaagcctggagttcctctCatgtttattattcagaacac	7	9	2	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr8:117783742C>T	ENST00000309822.2	+	3	512	c.411C>T	c.(409-411)ctC>ctT	p.L137L	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	137					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						GAGTTCCTCTCATGTTTATTA	0.353																																																	0								ENSG00000147679						71	78	75					8																	117783742		2203	4300	6503	UTP23	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.411C>T	8.37:g.117783742C>T		Somatic	0	38	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	41	35.94	B2RE25|Q96NJ8	Silent	SNP	25	0	0	68	42.37	50	pfam_Fcf1/Utp23	p.L137	ENST00000309822.2	37	c.411	CCDS6320.1	8																																																																																			-	pfam_Fcf1/Utp23		0.353	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP23	protein_coding	OTTHUMT00000381173.1	C	NM_032334	-		117783742	1	no_errors	ENST00000309822	ensembl	human	known	74_37	silent	SNP	0.985	T	T	117783742	C	T	117783742	2	4	44	1	0	0	0	0	0	0	0	1	17107	813	29	2		2	UTP23	8	117783742	Silent	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	97672751	117783742	28580280	26	2598											
AQP3	360	genome.wustl.edu	37	chr9	33443824	33443824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaaggccaggttgaTggtgaggaaaccaccgtggg	15	8	0	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr9:33443824T>C	ENST00000297991.4	-	2	255	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	59					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GCCAGGTTGATGGTGAGGAAA	0.607																																																	0								ENSG00000165272						58	51	53					9																	33443824		2203	4300	6503	AQP3	SO:0001583	missense	0			-	HGNC		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"Ion channels / Aquaporins", "Blood group antigens"	636	protein-coding gene	gene with protein product	"Gill blood group"	600170	"aquaporin 3", "aquaporin 3 (GIL blood group)"			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.175A>G	9.37:g.33443824T>C	ENSP00000297991:p.Ile59Val	Somatic	0	56	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	41	0	0	33	28.26	13	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP	p.I59V	ENST00000297991.4	37	c.175	CCDS6542.1	9	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065407	0.20067	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	D	0.83992	-1.79	5.69	4.5	0.54988	Aquaporin-like (2);	0.048424	0.85682	D	0.000000	T	0.66645	0.2810	N	0.15975	0.35	0.37090	D	0.899392	B;B;B	0.32526	0.374;0.001;0.01	B;B;B	0.37091	0.241;0.004;0.014	T	0.64765	-0.6330	10	0.22109	T	0.4	1.5056	4.0518	0.09798	0.0:0.1751:0.1899:0.6349	.	59;59;59	C9JAH5;Q92482;B4E034	.;AQP3_HUMAN;.	V	59	ENSP00000297991:I59V	ENSP00000297991:I59V	I	-	1	0	AQP3	33433824	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.069000	0.57541	2.164000	0.68074	0.523000	0.50628	ATC	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.607	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	protein_coding	OTTHUMT00000052055.1	T	NM_004925	-		33443824	-1	no_errors	ENST00000297991	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33443824	T	C	33443824	3	2	44	1	0	0	0	0	1	0	0	0	827	1464	51	5	723	5	AQP3	9	33443824	Missense_Mutation	SNP	T	TCGA-DX-A3M1-01A-11D-A228-09		33443824	107769607	27	2599											
RORB	6096	genome.wustl.edu	37	chr9	77249620	77249620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaaactgtttaattgacaGaacgaacagaaaccgttgcc	9	8	0	4			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr9:77249620G>A	ENST00000396204.2	+	3	200	c.200G>A	c.(199-201)aGa>aAa	p.R67K	RORB_ENST00000376896.3_Missense_Mutation_p.R56K			Q92753	RORB_HUMAN	RAR-related orphan receptor B	67					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TTAATTGACAGAACGAACAGA	0.458																																																	0								ENSG00000198963						78	73	75					9																	77249620		2203	4300	6503	RORB	SO:0001583	missense	0			-	HGNC	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.200G>A	9.37:g.77249620G>A	ENSP00000379507:p.Arg67Lys	Somatic	0	51	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q8WX73	Missense_Mutation	SNP	28	0	0	36	44.62	29	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt	p.R67K	ENST00000396204.2	37	c.200		9	.	.	.	.	.	.	.	.	.	.	G	36	5.775832	0.96922	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96365	-3.99;-3.99	5.82	5.82	0.92795	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	N	0.13371	0.34	0.80722	D	1	D;P	0.89917	1.0;0.95	D;P	0.91635	0.999;0.863	D	0.95039	0.8176	10	0.27082	T	0.32	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	67;56	Q92753;Q58EY0	RORB_HUMAN;.	K	56;67	ENSP00000366093:R56K;ENSP00000379507:R67K	ENSP00000366093:R56K	R	+	2	0	RORB	76439440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.752000	0.94435	0.655000	0.94253	AGA	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.458	RORB-201	KNOWN	basic	protein_coding	RORB	protein_coding		G		-		77249620	1	no_errors	ENST00000396204	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77249620	G	A	77249620	3	1	44	1	0	0	0	0	1	0	0	0	13537	942	33	2	177	2	RORB	9	77249620	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	43805796	77249620	63963811	28	2600											
SVEP1	79987	genome.wustl.edu	37	chr9	113170710	113170710	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagaaggaatggggacAccaaaggaaattaggggagg	17	4	0	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr9:113170710A>T	ENST00000401783.2	-	38	7506	c.7170T>A	c.(7168-7170)ggT>ggA	p.G2390G	SVEP1_ENST00000297826.5_Silent_p.G316G|SVEP1_ENST00000374469.1_Silent_p.G2367G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2390	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGGGGACACCAAAGGAAA	0.458																																																	0								ENSG00000165124						57	56	56					9																	113170710		1875	4115	5990	SVEP1	SO:0001819	synonymous_variant	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7170T>A	9.37:g.113170710A>T		Somatic	0	23	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	28	60.56	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	29	0	0	67	78.53	245	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G2390	ENST00000401783.2	37	c.7170	CCDS48004.1	9																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		A		-		113170710	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	silent	SNP	0.928	T	T	113170710	A	T	113170710	2	4	44	1	0	0	0	0	0	0	0	1	15427	146	6	5		5	SVEP1	9	113170710	Silent	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09	35921090	113170710	28042721	29	2601											
PDHX	8050	genome.wustl.edu	37	chr11	35006133	35006133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaaatgccagatgttaAtgtaagctgggatggagagg	14	5	0	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:35006133A>G	ENST00000227868.4	+	9	1124	c.1040A>G	c.(1039-1041)aAt>aGt	p.N347S	PDHX_ENST00000430469.2_Missense_Mutation_p.N120S|PDHX_ENST00000448838.3_Missense_Mutation_p.N332S			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	347					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCAGATGTTAATGTAAGCTGG	0.363																																																	0								ENSG00000110435						67	64	65					11																	35006133		2202	4298	6500	PDHX	SO:0001583	missense	0			-	HGNC	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1040A>G	11.37:g.35006133A>G	ENSP00000227868:p.Asn347Ser	Somatic	0	45	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	54	0	0	39	39.06	25	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.N347S	ENST00000227868.4	37	c.1040	CCDS7896.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.6|21.6	4.175722|4.175722	0.78564|0.78564	.|.	.|.	ENSG00000110435|ENSG00000110435	ENST00000526309|ENST00000448838;ENST00000227868;ENST00000430469	.|T;T;T	.|0.58797	.|0.31;0.31;0.31	5.55|5.55	5.55|5.55	0.83447|0.83447	.|2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84763|0.84763	0.5544|0.5544	H|H	0.97918|0.97918	4.105|4.105	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.87578	.|0.996;0.997;0.998	D|D	0.90300|0.90300	0.4329|0.4329	5|10	.|0.72032	.|D	.|0.01	-30.8015|-30.8015	14.8789|14.8789	0.70516|0.70516	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|120;332;347	.|E9PBP7;E9PB14;O00330	.|.;.;ODPX_HUMAN	V|S	35|332;347;120	.|ENSP00000389404:N332S;ENSP00000227868:N347S;ENSP00000415695:N120S	.|ENSP00000227868:N347S	M|N	+|+	1|2	0|0	PDHX|PDHX	34962709|34962709	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.923000|0.923000	0.55619|0.55619	8.543000|8.543000	0.90651|0.90651	2.107000|2.107000	0.64212|0.64212	0.482000|0.482000	0.46254|0.46254	ATG|AAT	-	pfam_2-oxoacid_DH_actylTfrase		0.363	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	protein_coding	OTTHUMT00000390017.1	A	NM_003477	-		35006133	1	no_errors	ENST00000227868	ensembl	human	known	74_37	missense	SNP	1.000	G	G	35006133	A	G	35006133	3	3	44	1	0	0	0	0	1	0	0	0	11669	101	4	5	1193	5	PDHX	11	35006133	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09		35006133	100000383	30	2602											
SHANK2	22941	genome.wustl.edu	37	chr11	70331623	70331623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggagaaccttggccatcCcaggctgggcactgcccggc	14	15	0	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:70331623C>A	ENST00000423696.2	-	15	3674	c.3638G>T	c.(3637-3639)gGg>gTg	p.G1213V	SHANK2_ENST00000338508.4_Missense_Mutation_p.G1593V|SHANK2_ENST00000449833.2_Missense_Mutation_p.G997V|SHANK2_ENST00000409161.1_Missense_Mutation_p.G996V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1213					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGCCATCCCAGGCTGGGC	0.577																																																	0								ENSG00000162105						54	61	58					11																	70331623		2200	4294	6494	SHANK2	SO:0001583	missense	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3638G>T	11.37:g.70331623C>A	ENSP00000394536:p.Gly1213Val	Somatic	0	27	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	36	0	0	26	31.58	12	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.G1593V	ENST00000423696.2	37	c.4778		11	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106547	0.37145	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	2.29;2.29;3.02;1.0;2.42;2.42	5.32	3.39	0.38822	.	0.868159	0.10212	N	0.701961	T	0.44456	0.1294	L	0.53249	1.67	0.23150	N	0.998218	B;P;P	0.42757	0.134;0.789;0.604	B;P;B	0.45428	0.07;0.48;0.268	T	0.20505	-1.0273	10	0.39692	T	0.17	.	9.6796	0.40061	0.0:0.6556:0.2667:0.0777	.	1213;1592;997	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	997;996;871;1593;1213;1231;1216	ENSP00000399423:G997V;ENSP00000386491:G996V;ENSP00000402944:G871V;ENSP00000345193:G1593V;ENSP00000394536:G1213V;ENSP00000294018:G1216V	ENSP00000294018:G1216V	G	-	2	0	SHANK2	70009271	0.052000	0.20516	0.017000	0.16124	0.989000	0.77384	1.466000	0.35310	0.578000	0.29487	0.655000	0.94253	GGG	-	NULL		0.577	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		C	NM_012309	-		70331623	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	SNP	0.038	A	A	70331623	C	A	70331623	3	1	44	1	0	0	0	0	1	0	0	0	14273	623	22	3	782	3	SHANK2	11	70331623	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	35325490	70331623	64674893	31	2603											
RAB6A	5870	genome.wustl.edu	37	chr11	73441811	73441811	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attggcaaaaacaaaataccTgataggtgttgtcaaaactg	8	6	1	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:73441811T>A	ENST00000336083.3	-	2	583	c.128A>T	c.(127-129)cAg>cTg	p.Q43L	RAB6A_ENST00000536566.1_Splice_Site_p.Q10L|RAB6A_ENST00000310653.6_Splice_Site_p.Q43L|RAB6A_ENST00000541588.1_Splice_Site_p.Q43L	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	43					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						ACAAAATACCTGATAGGTGTT	0.284																																																	0								ENSG00000175582						91	93	92					11																	73441811		2200	4293	6493	RAB6A	SO:0001630	splice_region_variant	0			-	HGNC	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.129+1A>T	11.37:g.73441811T>A		Somatic	0	41	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00	A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	44	0	0	51	50.00	51	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q43L	ENST00000336083.3	37	c.128	CCDS8224.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.190804|4.190804	0.78789|0.78789	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000310653;ENST00000336083;ENST00000393571;ENST00000536566;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366|ENST00000541973;ENST00000400470	T;T;T;T;T|.	0.76709|.	-1.04;-1.04;-1.04;-1.04;-1.04|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.21617|0.21617	0.685|0.685	0.50632|0.50632	D|D	0.999888|0.999888	P;D;B;B|.	0.76494|.	0.947;0.999;0.236;0.015|.	P;D;B;B|.	0.80764|.	0.908;0.994;0.121;0.064|.	T|T	0.42531|0.42531	-0.9446|-0.9446	10|5	0.87932|.	D|.	0|.	-1.6668|-1.6668	11.4519|11.4519	0.50158|0.50158	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	43;43;43;43|.	Q1W5D8;F5H3K7;P20340;P20340-2|.	.;.;RAB6A_HUMAN;.|.	L|W	43;43;43;10;43;43;43;43;43|36;35	ENSP00000311449:Q43L;ENSP00000336850:Q43L;ENSP00000437863:Q10L;ENSP00000445350:Q43L;ENSP00000438842:Q43L|.	ENSP00000311449:Q43L|.	Q|R	-|-	2|1	0|2	RAB6A|RAB6A	73119459|73119459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.411000|6.411000	0.73298|0.73298	1.927000|1.927000	0.55829|0.55829	0.455000|0.455000	0.32223|0.32223	CAG|AGG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.284	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	protein_coding	OTTHUMT00000259241.2	T		-	Missense_Mutation	73441811	-1	no_errors	ENST00000310653	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73441811	T	A	73441811	5	1	44	1	0	0	0	0	0	0	1	0	12959	1594	55	5	636	5	RAB6A	11	73441811	Splice_Site	SNP	T	TCGA-DX-A3M1-01A-11D-A228-09	3110188	73441811	61564705	32	2604											
HEPHL1	341208	genome.wustl.edu	37	chr11	93819313	93819313	+	Missense_Mutation	SNP	C	C	T													gagactccctggccctgtttCcccacatggccacaacagca							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:93819313C>T	ENST00000315765.9	+	11	2046	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	680	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGCCCTGTTTCCCCACATGGC	0.517																																																	0								ENSG00000181333						79	77	78					11																	93819313		2014	4185	6199	HEPHL1	SO:0001583	missense	0			-	HGNC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2038C>T	11.37:g.93819313C>T	ENSP00000313699:p.Pro680Ser	Somatic	0	77	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	30	60.53	Q3C1W7	Missense_Mutation	SNP	39	0	0	37	55.95	47	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.P680S	ENST00000315765.9	37	c.2038	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028495	0.93518	.	.	ENSG00000181333	ENST00000315765	D	0.99948	-8.65	5.94	5.94	0.96194	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	M	0.80028	2.48	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	D	0.95813	0.8843	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	680	Q6MZM0	HPHL1_HUMAN	S	680	ENSP00000313699:P680S	ENSP00000313699:P680S	P	+	1	0	HEPHL1	93458961	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.332000	0.79203	2.820000	0.97059	0.650000	0.86243	CCC	-	superfamily_Cupredoxin		0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	C	XM_291947	-		93819313	1	no_errors	ENST00000315765	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93819313	C	T	93819313	3	4	44	1	0	0	0	0	1	0	0	0	7057	855	30	2	2080	2	HEPHL1	11	93819313	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	20377502	93819313	41187203	33	2605	40	2	2	35		3	2	41	N	C	8.010858e-05
HEPHL1	341208	genome.wustl.edu	37	chr11	93819316	93819316	+	Missense_Mutation	SNP	C	C	G													actccctggccctgtttcccCacatggccacaacagcattc							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:93819316C>G	ENST00000315765.9	+	11	2049	c.2041C>G	c.(2041-2043)Cac>Gac	p.H681D		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	681	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTGTTTCCCCACATGGCCAC	0.517																																																	0								ENSG00000181333						77	75	75					11																	93819316		2014	4188	6202	HEPHL1	SO:0001583	missense	0			-	HGNC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2041C>G	11.37:g.93819316C>G	ENSP00000313699:p.His681Asp	Somatic	0	80	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	27	64.00	Q3C1W7	Missense_Mutation	SNP	39	0	0	35	57.32	47	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.H681D	ENST00000315765.9	37	c.2041	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590509	0.86851	.	.	ENSG00000181333	ENST00000315765	D	0.99751	-6.63	5.94	5.94	0.96194	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	M	0.80982	2.52	0.54753	D	0.999987	D	0.76494	0.999	D	0.73380	0.98	D	0.98908	1.0779	10	0.34782	T	0.22	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	681	Q6MZM0	HPHL1_HUMAN	D	681	ENSP00000313699:H681D	ENSP00000313699:H681D	H	+	1	0	HEPHL1	93458964	1.000000	0.71417	0.995000	0.50966	0.847000	0.48162	7.332000	0.79203	2.820000	0.97059	0.650000	0.86243	CAC	-	superfamily_Cupredoxin		0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	C	XM_291947	-		93819316	1	no_errors	ENST00000315765	ensembl	human	known	74_37	missense	SNP	1.000	G	G	93819316	C	G	93819316	3	3	44	1	0	0	0	0	1	0	0	0	7057	594	21	4	2083	4	HEPHL1	11	93819316	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	3	93819316	41187200	34	2606	40	2	2	35		3	2	41	N	C	8.010858e-05
HEPHL1	341208	genome.wustl.edu	37	chr11	93819353	93819353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatgcagccagaccatgCaggtaaacttgctgggtcca	10	11	1	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:93819353C>T	ENST00000315765.9	+	11	2086	c.2078C>T	c.(2077-2079)gCa>gTa	p.A693V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	693	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAGACCATGCAGGTAAACTT	0.512																																																	0								ENSG00000181333						52	50	51					11																	93819353		1986	4170	6156	HEPHL1	SO:0001583	missense	0			-	HGNC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2078C>T	11.37:g.93819353C>T	ENSP00000313699:p.Ala693Val	Somatic	0	68	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	24	67.12	Q3C1W7	Missense_Mutation	SNP	38	0	0	33	57.69	45	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.A693V	ENST00000315765.9	37	c.2078	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	C	9.087	1.000825	0.19121	.	.	ENSG00000181333	ENST00000315765	D	0.99762	-6.67	5.64	5.64	0.86602	Cupredoxin (2);	0.382639	0.30401	N	0.009717	D	0.97820	0.9284	N	0.11131	0.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.95369	0.8462	10	0.25751	T	0.34	.	7.7022	0.28630	0.0:0.8067:0.0:0.1933	.	693	Q6MZM0	HPHL1_HUMAN	V	693	ENSP00000313699:A693V	ENSP00000313699:A693V	A	+	2	0	HEPHL1	93459001	0.903000	0.30736	1.000000	0.80357	0.277000	0.26821	1.010000	0.29898	2.820000	0.97059	0.650000	0.86243	GCA	-	superfamily_Cupredoxin		0.512	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	C	XM_291947	-		93819353	1	no_errors	ENST00000315765	ensembl	human	known	74_37	missense	SNP	0.998	T	T	93819353	C	T	93819353	3	4	44	1	0	0	0	0	1	0	0	0	7057	710	25	2	2120	2	HEPHL1	11	93819353	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	37	93819353	41187163	35	2607			2	35		3	2	41	N	C	8.010858e-05
PHLDB1	23187	genome.wustl.edu	37	chr11	118513072	118513072	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcagcctcccctcactcttCtcccccgcctctgcccgcca	5	24	4	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:118513072C>G	ENST00000361417.2	+	14	3248	c.2837C>G	c.(2836-2838)tCt>tGt	p.S946C	PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000524713.1_Missense_Mutation_p.S89C|PHLDB1_ENST00000534672.1_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	946										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTCACTCTTCTCCCCCGCCT	0.637																																																	0								ENSG00000019144						65	68	67					11																	118513072		2200	4295	6495	PHLDB1	SO:0001583	missense	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2837C>G	11.37:g.118513072C>G	ENSP00000354498:p.Ser946Cys	Somatic	0	80	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	23	60.34	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	28	0	0	13	63.89	23	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S946C	ENST00000361417.2	37	c.2837	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830333	0.32329	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000524713	T;T	0.49720	0.88;0.77	4.89	4.89	0.63831	.	0.649472	0.14224	N	0.333196	T	0.44664	0.1304	L	0.38838	1.175	0.32842	D	0.505447	B;B;P	0.44877	0.184;0.05;0.845	B;B;B	0.43754	0.083;0.022;0.43	T	0.57505	-0.7800	10	0.49607	T	0.09	-9.4348	14.7972	0.69886	0.0:1.0:0.0:0.0	.	84;89;946	B7Z2B9;B4DK17;Q86UU1	.;.;PHLB1_HUMAN	C	946;705;310;89	ENSP00000354498:S946C;ENSP00000434905:S89C	ENSP00000350921:S310C	S	+	2	0	PHLDB1	118018282	0.997000	0.39634	0.997000	0.53966	0.915000	0.54546	4.652000	0.61454	2.254000	0.74563	0.455000	0.32223	TCT	-	NULL		0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	C	NM_015157	-		118513072	1	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	SNP	0.966	G	G	118513072	C	G	118513072	3	3	44	1	0	0	0	0	1	0	0	0	11853	913	32	4	2883	4	PHLDB1	11	118513072	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	24693719	118513072	16493444	36	2608											
ADAMTS15	170689	genome.wustl.edu	37	chr11	130319823	130319823	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatcctcttcaccaggCaggtgagttgatctgccgtc	10	14	3	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr11:130319823C>T	ENST00000299164.2	+	1	955	c.955C>T	c.(955-957)Cag>Tag	p.Q319*		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	319	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTTCACCAGGCAGGTGAGTTG	0.562											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000166106						59	55	57					11																	130319823		2181	4265	6446	ADAMTS15	SO:0001587	stop_gained	0			-	HGNC	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.955C>T	11.37:g.130319823C>T	ENSP00000299164:p.Gln319*	Somatic	0	53	0	1579	0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	11	64.52	Q32MI6	Nonsense_Mutation	SNP	36	0	0	15	65.12	28	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.Q319*	ENST00000299164.2	37	c.955	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	C	38	7.147789	0.98096	.	.	ENSG00000166106	ENST00000299164	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	14.7459	0.69490	0.1446:0.8554:0.0:0.0	.	.	.	.	X	319	.	ENSP00000299164:Q319X	Q	+	1	0	ADAMTS15	129825033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	2.720000	0.93068	0.655000	0.94253	CAG	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.562	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	protein_coding	OTTHUMT00000385638.1	C	NM_139055	-		130319823	1	no_errors	ENST00000299164	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	130319823	C	T	130319823	4	4	44	1	0	0	0	0	0	1	0	0	260	711	25	2	957	2	ADAMTS15	11	130319823	Nonsense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	11806751	130319823	4686693	37	2609											
KCNA5	3741	genome.wustl.edu	37	chr12	5154464	5154464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agagcagcagccagggggtgGaggaggcggccagaatgggc	21	8	0	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:5154464G>T	ENST00000252321.3	+	1	1380	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	384	Poly-Gly.				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)	CCAGGGGGTGGAGGAGGCGGC	0.627																																																	0								ENSG00000130037						55	51	53					12																	5154464		2203	4300	6503	KCNA5	SO:0001583	missense	0			-	HGNC	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.1151G>T	12.37:g.5154464G>T	ENSP00000252321:p.Gly384Val	Somatic	0	48	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	44	22.81	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	40	0	0	41	18.00	9	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G384V	ENST00000252321.3	37	c.1151	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	9.567	1.119901	0.20877	.	.	ENSG00000130037	ENST00000252321	D	0.97731	-4.51	4.62	4.62	0.57501	Ion transport (1);	2.171590	0.03002	U	0.148348	D	0.97529	0.9191	L	0.39245	1.2	0.28833	N	0.897056	P	0.47604	0.898	P	0.55667	0.781	D	0.91902	0.5532	10	0.42905	T	0.14	.	10.2779	0.43521	0.0896:0.0:0.9104:0.0	.	384	P22460	KCNA5_HUMAN	V	384	ENSP00000252321:G384V	ENSP00000252321:G384V	G	+	2	0	KCNA5	5024725	0.028000	0.19301	0.118000	0.21660	0.211000	0.24417	0.987000	0.29603	2.390000	0.81377	0.561000	0.74099	GGA	-	pfam_Ion_trans_dom		0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	protein_coding	OTTHUMT00000398925.2	G	NM_002234	-		5154464	1	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	SNP	0.088	T	T	5154464	G	T	5154464	3	4	44	1	0	0	0	0	1	0	0	0	8008	1174	41	3	1153	3	KCNA5	12	5154464	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		5154464	128697431	38	2610											
KIF21A	55605	genome.wustl.edu	37	chr12	39745740	39745740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcttgtcaagtttttTcgaaggttctcattcactgc	9	9	4	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:39745740T>C	ENST00000361418.5	-	11	1527	c.1512A>G	c.(1510-1512)cgA>cgG	p.R504R	KIF21A_ENST00000541463.2_Silent_p.R504R|KIF21A_ENST00000361961.3_Silent_p.R504R|KIF21A_ENST00000395670.3_Silent_p.R504R|KIF21A_ENST00000544797.2_Silent_p.R504R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	504					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAAGTTTTTTCGAAGGTTCT	0.343																																																	0								ENSG00000139116						154	152	153					12																	39745740		2203	4300	6503	KIF21A	SO:0001819	synonymous_variant	0			-	HGNC	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1512A>G	12.37:g.39745740T>C		Somatic	0	36	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	23	0	0	43	30.65	19	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R504	ENST00000361418.5	37	c.1512	CCDS53776.1	12																																																																																			-	superfamily_ARM-type_fold		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	T	NM_017641	-		39745740	-1	no_errors	ENST00000395670	ensembl	human	known	74_37	silent	SNP	0.766	C	C	39745740	T	C	39745740	2	2	44	1	0	0	0	0	0	0	0	1	8290	1770	62	5		5	KIF21A	12	39745740	Silent	SNP	T	TCGA-DX-A3M1-01A-11D-A228-09	34591276	39745740	94106155	39	2611											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72026677	72026677	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccctcaccccaaagcgatCttgttccagtttacgttttc	5	14	2	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:72026677C>A	ENST00000378743.3	-	14	3164	c.2806G>T	c.(2806-2808)Gat>Tat	p.D936Y		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	936					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						CCAAAGCGATCTTGTTCCAGT	0.343																																																	0								ENSG00000133858						139	132	134					12																	72026677		1812	4072	5884	ZFC3H1	SO:0001583	missense	0			-	HGNC	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.2806G>T	12.37:g.72026677C>A	ENSP00000368017:p.Asp936Tyr	Somatic	0	25	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	79	14.13	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	32	0	0	223	24.92	74	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.D936Y	ENST00000378743.3	37	c.2806	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703770	0.48412	.	.	ENSG00000133858	ENST00000378743	T	0.33216	1.42	5.29	5.29	0.74685	.	0.351800	0.28847	N	0.013954	T	0.20820	0.0501	N	0.19112	0.55	0.80722	D	1	P	0.46277	0.875	B	0.41510	0.359	T	0.02004	-1.1231	10	0.66056	D	0.02	.	9.6167	0.39696	0.0:0.8449:0.0:0.1551	.	936	O60293	ZC3H1_HUMAN	Y	936	ENSP00000368017:D936Y	ENSP00000368017:D936Y	D	-	1	0	ZFC3H1	70312944	0.960000	0.32886	1.000000	0.80357	0.924000	0.55760	1.986000	0.40677	2.490000	0.84030	0.484000	0.47621	GAT	-	NULL		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	C	NM_144982	-		72026677	-1	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	SNP	0.998	A	A	72026677	C	A	72026677	3	1	44	1	0	0	0	0	1	0	0	0	17640	913	32	3	3251	3	ZFC3H1	12	72026677	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	32280937	72026677	61825218	40	2612											
CEP290	80184	genome.wustl.edu	37	chr12	88508221	88508221	+	Silent	SNP	G	G	A													actagtctttcaaggctaggGataattagagatgtttctcc							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:88508221G>A	ENST00000552810.1	-	20	2371	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.I678I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	676					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						CAAGGCTAGGGATAATTAGAG	0.323																																																	0								ENSG00000198707						158	142	147					12																	88508221		1634	3620	5254	CEP290	SO:0001819	synonymous_variant	0			-	HGNC	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.2028C>T	12.37:g.88508221G>A		Somatic	0	49	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	172	137	55.66	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	35	0	0	265	64.43	480	NULL	p.I678	ENST00000552810.1	37	c.2034	CCDS55858.1	12																																																																																			-	NULL		0.323	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114	-		88508221	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	silent	SNP	0.962	A	A	88508221	G	A	88508221	2	1	44	1	0	0	0	0	0	0	0	1	3255	1164	41	2		2	CEP290	12	88508221	Silent	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	16481544	88508221	45343674	41	2613	41	2	3	36		3	2	36	N	G	7.009536e-05
CEP290	80184	genome.wustl.edu	37	chr12	88508231	88508231	+	Missense_Mutation	SNP	G	G	A													caaggctagggataattagaGatgtttctcctcctttaaca							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:88508231G>A	ENST00000552810.1	-	20	2361	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.S675F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	673					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						GATAATTAGAGATGTTTCTCC	0.318																																																	0								ENSG00000198707						165	147	152					12																	88508231		1656	3710	5366	CEP290	SO:0001583	missense	0			-	HGNC	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.2018C>T	12.37:g.88508231G>A	ENSP00000448012:p.Ser673Phe	Somatic	0	50	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	182	146	55.49	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	33	0	0	260	65.01	483	NULL	p.S675F	ENST00000552810.1	37	c.2024	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705418	0.48412	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.81078	-1.45;-1.45	6.06	5.18	0.71444	.	0.390399	0.26951	N	0.021674	T	0.68522	0.3010	N	0.22421	0.69	0.80722	D	1	P;B	0.44380	0.834;0.296	B;B	0.39258	0.295;0.079	T	0.71823	-0.4476	10	0.56958	D	0.05	.	11.4358	0.50068	0.137:0.0:0.863:0.0	.	673;673	Q05BJ6;O15078	.;CE290_HUMAN	F	673;675;673	ENSP00000448012:S673F;ENSP00000308021:S675F	ENSP00000308021:S675F	S	-	2	0	CEP290	87032362	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.588000	0.53964	1.582000	0.49881	0.650000	0.86243	TCT	-	NULL		0.318	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114	-		88508231	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	0.983	A	A	88508231	G	A	88508231	3	1	44	1	0	0	0	0	1	0	0	0	3255	942	33	2	5561	2	CEP290	12	88508231	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	10	88508231	45343664	42	2614	41	2	3	36		3	2	36	N	G	7.009536e-05
CEP290	80184	genome.wustl.edu	37	chr12	88508256	88508256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcctcctttaacatcagGatctttctgcatttccttaa	3	12	4	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:88508256G>A	ENST00000552810.1	-	20	2336	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.P667S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	665					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						TTAACATCAGGATCTTTCTGC	0.303																																																	0								ENSG00000198707						163	146	151					12																	88508256		1741	3863	5604	CEP290	SO:0001583	missense	0			-	HGNC	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.1993C>T	12.37:g.88508256G>A	ENSP00000448012:p.Pro665Ser	Somatic	0	56	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	216	166	56.54	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	35	0	0	258	65.42	488	NULL	p.P667S	ENST00000552810.1	37	c.1999	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.807873	0.02819	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.79653	-1.29;-1.29	5.87	3.06	0.35304	.	0.337668	0.32386	N	0.006178	T	0.58264	0.2110	N	0.10874	0.06	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.004	T	0.47446	-0.9117	10	0.06494	T	0.89	.	10.2179	0.43179	0.2753:0.0:0.7246:0.0	.	665;665	Q05BJ6;O15078	.;CE290_HUMAN	S	665;667;665	ENSP00000448012:P665S;ENSP00000308021:P667S	ENSP00000308021:P667S	P	-	1	0	CEP290	87032387	1.000000	0.71417	0.985000	0.45067	0.471000	0.32888	1.152000	0.31663	0.387000	0.25024	-0.145000	0.13849	CCT	-	NULL		0.303	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114	-		88508256	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	0.909	A	A	88508256	G	A	88508256	3	1	44	1	0	0	0	0	1	0	0	0	3255	1174	41	2	5586	2	CEP290	12	88508256	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	25	88508256	45343639	43	2615			3	36		3	2	36	N	G	7.009536e-05
SLC25A3	5250	genome.wustl.edu	37	chr12	98993839	98993839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgtacaagtttgtggttCctaagccccgcagtgaatgt	10	10	0	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:98993839C>T	ENST00000228318.3	+	6	871	c.751C>T	c.(751-753)Cct>Tct	p.P251S	SLC25A3_ENST00000401722.3_Missense_Mutation_p.P250S|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.P250S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.P250S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.P251S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.P250S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.P250S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	251					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GTTTGTGGTTCCTAAGCCCCG	0.448																																																	0								ENSG00000075415						151	124	133					12																	98993839		2203	4300	6503	SLC25A3	SO:0001583	missense	0			-	HGNC		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.751C>T	12.37:g.98993839C>T	ENSP00000228318:p.Pro251Ser	Somatic	0	53	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	270	44	85.99	B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	30	0	0	45	90.13	411	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P251S	ENST00000228318.3	37	c.751	CCDS9066.1	12	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831718	0.71258	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.03;-1.03;-1.25;-1.25;-1.15	5.49	5.49	0.81192	Mitochondrial carrier domain (2);	0.157467	0.64402	D	0.000020	T	0.80352	0.4607	M	0.67953	2.075	0.80722	D	1	B;B;B;P	0.35793	0.09;0.114;0.246;0.521	B;B;B;B	0.40410	0.086;0.058;0.058;0.328	T	0.81618	-0.0851	10	0.66056	D	0.02	-19.2098	17.9155	0.88948	0.0:1.0:0.0:0.0	.	250;250;251;250	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	S	250;250;251;251;250;250;250	ENSP00000383898:P250S;ENSP00000188376:P250S;ENSP00000228318:P251S;ENSP00000447310:P251S;ENSP00000448708:P250S;ENSP00000447740:P250S;ENSP00000449166:P250S	ENSP00000188376:P250S	P	+	1	0	SLC25A3	97517970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.265000	0.78442	2.743000	0.94032	0.655000	0.94253	CCT	-	superfamily_Mt_carrier_dom		0.448	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	protein_coding	OTTHUMT00000407989.1	C	NM_005888	-		98993839	1	no_errors	ENST00000228318	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98993839	C	T	98993839	3	4	44	1	0	0	0	0	1	0	0	0	14501	855	30	2	895	2	SLC25A3	12	98993839	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	10485583	98993839	34858056	44	2616											
SLC41A2	84102	genome.wustl.edu	37	chr12	105260245	105260245	+	Frame_Shift_Del	DEL	G	G	-													gctgttatgacaggctcccaGcctgagtggagaactgttct							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:105260245delG	ENST00000258538.3	-	6	1267	c.1140delC	c.(1138-1140)ggcfs	p.G380fs		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	380					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CAGGCTCCCAGCCTGAGTGGA	0.413																																					Esophageal Squamous(195;176 2919 4272 35572)												0								ENSG00000136052						74	76	75					12																	105260245		2203	4300	6503	SLC41A2	SO:0001589	frameshift_variant	0				HGNC	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1140delC	12.37:g.105260245delG	ENSP00000258538:p.Gly380fs	Somatic	0	66	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	77	44.20	Q3KP68|Q9H0E5	Frame_Shift_Del	DEL	33	0	0	60	53.12	68	pfam_SLC41_membr_dom	p.W381fs	ENST00000258538.3	37	c.1140	CCDS9100.2	12																																																																																			-	NULL		0.413	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A2	protein_coding	OTTHUMT00000346850.3	G	NM_032148			105260245	-1	no_errors	ENST00000258538	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	105260245	G	-	105260245	7	5	44	1	0	1	0	1	0	0	0	0	14638	958	34	0	601	0	SLC41A2	12	105260245	Frame_Shift_Del	DEL	G	TCGA-DX-A3M1-01A-11D-A228-09	6266406	105260245	28591650	45	2617											
RIMBP2	23504	genome.wustl.edu	37	chr12	130919312	130919312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcctttcaggaagtcGtccaccgaggcgcccctcct	10	16	2	1	rs377575822		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr12:130919312G>A	ENST00000261655.4	-	11	2332	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	RIMBP2_ENST00000535703.1_Silent_p.D631D|RIMBP2_ENST00000536002.1_Silent_p.D631D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	723					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGGAAGTCGTCCACCGAGG	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		14673	0		0	False		,,,				2504	0																0								ENSG00000060709	G		0,4406		0,0,2203	74	82	80		2169	-6.2	0.9	12		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIMBP2	NM_015347.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		723/1053	130919312	1,13005	2203	4300	6503	RIMBP2	SO:0001819	synonymous_variant	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2169C>T	12.37:g.130919312G>A		Somatic	0	74	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q96ID2	Silent	SNP	33	0	0	41	18.00	9	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.D723	ENST00000261655.4	37	c.2169	CCDS31925.1	12																																																																																			-	NULL		0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	-		130919312	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	SNP	0.781	A	A	130919312	G	A	130919312	2	1	44	1	0	0	0	0	0	0	0	1	13371	1136	40	1		1	RIMBP2	12	130919312	Silent	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	25659067	130919312	2932583	46	2618											
AQR	9716	genome.wustl.edu	37	chr15	35189162	35189162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatgagtgaactgaatcGtattactgcaaataagagta	10	4	0	4	rs369825498		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr15:35189162G>A	ENST00000156471.5	-	22	2621	c.2396C>T	c.(2395-2397)aCg>aTg	p.T799M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	799					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GAACTGAATCGTATTACTGCA	0.358													G|||	1	0.000199681	8e-04	0	5008	,	,		20381	0		0	False		,,,				2504	0																0								ENSG00000021776	G	MET/THR	0,3738		0,0,1869	79	76	77		2396	5.5	1	15		77	1,8191		0,1,4095	no	missense	AQR	NM_014691.2	81	0,1,5964	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	799/1486	35189162	1,11929	1869	4096	5965	AQR	SO:0001583	missense	0			-	HGNC	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2396C>T	15.37:g.35189162G>A	ENSP00000156471:p.Thr799Met	Somatic	0	22	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	42	0	0	36	46.27	31	superfamily_P-loop_NTPase	p.T799M	ENST00000156471.5	37	c.2396	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650246	0.67472	0.0	1.22E-4	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.81739	-1.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.82323	2.585	0.58432	D	0.999999	P	0.40083	0.702	B	0.28139	0.086	T	0.83180	-0.0089	10	0.46703	T	0.11	-17.0767	19.766	0.96342	0.0:0.0:1.0:0.0	.	799	O60306	AQR_HUMAN	M	799	ENSP00000156471:T799M	ENSP00000156471:T799M	T	-	2	0	AQR	32976454	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.858000	0.86971	2.743000	0.94032	0.585000	0.79938	ACG	-	superfamily_P-loop_NTPase		0.358	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	protein_coding	OTTHUMT00000417526.2	G	NM_014691	-		35189162	-1	no_errors	ENST00000156471	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35189162	G	A	35189162	3	1	44	1	0	0	0	0	1	0	0	0	835	1145	40	1	2117	1	AQR	15	35189162	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		35189162	67342230	47	2619											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84651157	84651157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagagcctatttgctgcCcaacacatccgtgattatta	7	11	0	2			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr15:84651157C>T	ENST00000286744.5	+	21	3001	c.2777C>T	c.(2776-2778)cCc>cTc	p.P926L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P926L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	926	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TATTTGCTGCCCAACACATCC	0.517																																																	0								ENSG00000156218						168	150	156					15																	84651157		2203	4300	6503	ADAMTSL3	SO:0001583	missense	0			-	HGNC	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2777C>T	15.37:g.84651157C>T	ENSP00000286744:p.Pro926Leu	Somatic	0	44	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	34	0	0	41	12.77	6	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.P926L	ENST00000286744.5	37	c.2777	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277368	0.59758	.	.	ENSG00000156218	ENST00000286744	T	0.75821	-0.97	5.05	4.13	0.48395	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000637	T	0.67534	0.2903	L	0.41632	1.29	0.80722	D	1	P;B	0.41784	0.762;0.085	B;B	0.41412	0.356;0.072	T	0.68349	-0.5432	10	0.51188	T	0.08	.	12.5006	0.55953	0.0:0.9181:0.0:0.0819	.	926;926	P82987-2;P82987	.;ATL3_HUMAN	L	926	ENSP00000286744:P926L	ENSP00000286744:P926L	P	+	2	0	ADAMTSL3	82442161	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.162000	0.64942	1.092000	0.41356	0.563000	0.77884	CCC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.517	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	C	NM_207517	-		84651157	1	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84651157	C	T	84651157	3	4	44	1	0	0	0	0	1	0	0	0	276	623	22	2	2855	2	ADAMTSL3	15	84651157	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	49461995	84651157	17880235	48	2620											
TRPV3	162514	genome.wustl.edu	37	chr17	3436043	3436043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagttgccactccgcagtaGgatcatgtcgtacatgcgct	10	13	1	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:3436043G>C	ENST00000576742.1	-	8	1294	c.973C>G	c.(973-975)Cta>Gta	p.L325V	TRPV3_ENST00000572519.1_Missense_Mutation_p.L325V|TRPV3_ENST00000301365.4_Missense_Mutation_p.L325V	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	325					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CTCCGCAGTAGGATCATGTCG	0.617																																																	0								ENSG00000167723						202	139	161					17																	3436043		2203	4300	6503	TRPV3	SO:0001583	missense	0			-	HGNC	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.973C>G	17.37:g.3436043G>C	ENSP00000461518:p.Leu325Val	Somatic	0	71	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	40	0	0	44	31.25	20	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.L325V	ENST00000576742.1	37	c.973	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414071	0.42817	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.56103	0.48	5.31	2.05	0.26809	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000082	T	0.62270	0.2414	L	0.49350	1.555	0.38444	D	0.946782	P;D;D;D;D;D;D	0.71674	0.846;0.975;0.997;0.975;0.998;0.997;0.998	P;P;D;P;D;D;D	0.83275	0.754;0.751;0.991;0.751;0.996;0.991;0.996	T	0.63651	-0.6589	10	0.56958	D	0.05	-7.1888	9.2703	0.37668	0.326:0.0:0.674:0.0	.	309;309;325;309;325;325;325	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	V	325;325;309	ENSP00000301365:L325V	ENSP00000301365:L325V	L	-	1	2	TRPV3	3382793	0.000000	0.05858	0.972000	0.41901	0.025000	0.11179	-0.018000	0.12568	0.642000	0.30620	0.561000	0.74099	CTA	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel		0.617	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	protein_coding	OTTHUMT00000207379.2	G	NM_145068	-		3436043	-1	no_errors	ENST00000301365	ensembl	human	known	74_37	missense	SNP	0.999	C	C	3436043	G	C	3436043	3	2	44	1	0	0	0	0	1	0	0	0	16604	991	35	4	1443	4	TRPV3	17	3436043	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		3436043	77759167	49	2621											
DNAH2	146754	genome.wustl.edu	37	chr17	7640498	7640498	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctagcaagctccctaagctGatcagtctcatccgcatcat	6	14	4	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:7640498G>A	ENST00000572933.1	+	8	2552	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	DNAH2_ENST00000082259.3_Silent_p.L364L|DNAH2_ENST00000570791.1_Silent_p.L364L|DNAH2_ENST00000389173.2_Silent_p.L364L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	364	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCTAAGCTGATCAGTCTCA	0.512																																																	0								ENSG00000183914						129	111	117					17																	7640498		2203	4300	6503	DNAH2	SO:0001819	synonymous_variant	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1092G>A	17.37:g.7640498G>A		Somatic	0	45	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	21	50.00	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	41	0	0	30	50.00	30	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L364	ENST00000572933.1	37	c.1092	CCDS32551.1	17																																																																																			-	pfam_Dynein_heavy_dom-1		0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-		7640498	1	no_errors	ENST00000389173	ensembl	human	known	74_37	silent	SNP	0.942	A	A	7640498	G	A	7640498	2	1	44	1	0	0	0	0	0	0	0	1	4604	1277	45	2		2	DNAH2	17	7640498	Silent	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	4204455	7640498	73554712	50	2622											
MYH3	4621	genome.wustl.edu	37	chr17	10533632	10533632	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagtttctggatctgcttCttcccgcccttcagcgccag	8	16	4	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:10533632C>T	ENST00000583535.1	-	37	5517	c.5430G>A	c.(5428-5430)aaG>aaA	p.K1810K	MYH3_ENST00000226209.7_Silent_p.K1810K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1810					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGATCTGCTTCTTCCCGCCCT	0.597																																																	0								ENSG00000109063						122	117	119					17																	10533632		2203	4300	6503	MYH3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5430G>A	17.37:g.10533632C>T		Somatic	0	139	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	39	52.44	Q15492	Silent	SNP	22	0	0	22	50.00	22	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1810	ENST00000583535.1	37	c.5430	CCDS11157.1	17																																																																																			-	pfam_Myosin_tail		0.597	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	C	NM_002470	-		10533632	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	silent	SNP	1.000	T	T	10533632	C	T	10533632	2	4	44	1	0	0	0	0	0	0	0	1	10038	912	32	2		2	MYH3	17	10533632	Silent	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	2893134	10533632	70661578	51	2623			4	37		3	3	5506	C		6.032373e-05
MYH3	4621	genome.wustl.edu	37	chr17	10537376	10537376	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcacagtttcaagttgatCtaaggcttcctcgtaggcat	8	9	3	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:10537376C>G	ENST00000583535.1	-	32	4567	c.4480G>C	c.(4480-4482)Gat>Cat	p.D1494H	MYH3_ENST00000226209.7_Missense_Mutation_p.D1494H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1494					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D1494Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAAGTTGATCTAAGGCTTCC	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000109063						168	149	155					17																	10537376		2203	4300	6503	MYH3	SO:0001583	missense	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4480G>C	17.37:g.10537376C>G	ENSP00000464317:p.Asp1494His	Somatic	0	70	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	13	71.11	Q15492	Missense_Mutation	SNP	54	0	0	15	61.54	24	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1494H	ENST00000583535.1	37	c.4480	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860845	0.91433	.	.	ENSG00000109063	ENST00000226209	D	0.83992	-1.79	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.93828	0.8026	H	0.94886	3.595	0.54753	D	0.999988	D	0.76494	0.999	D	0.74023	0.982	D	0.95189	0.8306	9	0.87932	D	0	.	19.3282	0.94273	0.0:1.0:0.0:0.0	.	1494	P11055	MYH3_HUMAN	H	1494	ENSP00000226209:D1494H	ENSP00000226209:D1494H	D	-	1	0	MYH3	10478101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	2.623000	0.88846	0.655000	0.94253	GAT	-	pfam_Myosin_tail		0.483	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	C	NM_002470	-		10537376	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10537376	C	G	10537376	3	3	44	1	0	0	0	0	1	0	0	0	10038	913	32	4	1382	4	MYH3	17	10537376	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	3744	10537376	70657834	52	2624			4	37		3	3	5506	C		6.032373e-05
MYH3	4621	genome.wustl.edu	37	chr17	10539137	10539137	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagttgggatactatgCtttctttttcttccagctga	9	7	2	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:10539137C>G	ENST00000583535.1	-	29	3977	c.3890G>C	c.(3889-3891)aGc>aCc	p.S1297T	MYH3_ENST00000226209.7_Missense_Mutation_p.S1297T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1297					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGATACTATGCTTTCTTTTTC	0.433																																																	0								ENSG00000109063						184	181	182					17																	10539137		2203	4300	6503	MYH3	SO:0001583	missense	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3890G>C	17.37:g.10539137C>G	ENSP00000464317:p.Ser1297Thr	Somatic	0	62	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	15	53.12	Q15492	Missense_Mutation	SNP	50	0	0	22	64.52	40	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1297T	ENST00000583535.1	37	c.3890	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279717	0.40294	.	.	ENSG00000109063	ENST00000226209	D	0.83250	-1.7	5.13	5.13	0.70059	Myosin tail (1);	.	.	.	.	T	0.82240	0.4994	M	0.64404	1.975	0.23616	N	0.997284	B	0.12630	0.006	B	0.23852	0.049	T	0.71692	-0.4516	9	0.44086	T	0.13	.	14.7739	0.69703	0.0:0.7398:0.2602:0.0	.	1297	P11055	MYH3_HUMAN	T	1297	ENSP00000226209:S1297T	ENSP00000226209:S1297T	S	-	2	0	MYH3	10479862	0.701000	0.27806	1.000000	0.80357	0.933000	0.57130	4.636000	0.61339	2.813000	0.96785	0.655000	0.94253	AGC	-	pfam_Myosin_tail,superfamily_Prefoldin		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	C	NM_002470	-		10539137	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	SNP	0.888	G	G	10539137	C	G	10539137	3	3	44	1	0	0	0	0	1	0	0	0	10038	797	28	4	1984	4	MYH3	17	10539137	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	1761	10539137	70656073	53	2625			4	37		3	3	5506	C		6.032373e-05
KRTAP4-9	100132386	genome.wustl.edu	37	chr17	39261912	39261912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgtccagctgctgcaGgccccagtgctgccagcctg	13	14	0	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:39261912G>C	ENST00000391415.1	+	1	329	c.272G>C	c.(271-273)aGg>aCg	p.R91T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	91	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGCTGCTGCAGGCCCCAGTGC	0.652																																																	0								ENSG00000212722						11	19	16					17																	39261912		687	1588	2275	KRTAP4-9	SO:0001583	missense	0			-	HGNC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.272G>C	17.37:g.39261912G>C	ENSP00000375234:p.Arg91Thr	Somatic	0	251	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	99	196	33.45		Missense_Mutation	SNP	36	0	0	48	30.43	21	pfam_Keratin-assoc	p.R91T	ENST00000391415.1	37	c.272	CCDS54124.1	17	.	.	.	.	.	.	.	.	.	.	.	11.96	1.793846	0.31777	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.46819	0.86	3.34	0.805	0.18703	.	1.564990	0.05107	U	0.488202	T	0.46889	0.1416	M	0.72576	2.205	0.20764	N	0.999856	P	0.51791	0.948	P	0.46208	0.507	T	0.44236	-0.9341	10	0.22706	T	0.39	.	2.3211	0.04211	0.1886:0.0:0.5077:0.3037	.	91	Q9BYQ8	KRA49_HUMAN	T	91	ENSP00000375234:R91T	ENSP00000334461:R91T	R	+	2	0	KRTAP4-9	36515438	0.000000	0.05858	0.983000	0.44433	0.372000	0.29890	-0.064000	0.11636	1.398000	0.46701	0.205000	0.17691	AGG	-	pfam_Keratin-assoc		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	protein_coding	OTTHUMT00000257688.1	G	NM_001146041	-		39261912	1	no_errors	ENST00000391415	ensembl	human	known	74_37	missense	SNP	0.436	C	C	39261912	G	C	39261912	3	2	44	1	0	0	0	0	1	0	0	0	8559	1000	35	4	274	4	KRTAP4-9	17	39261912	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	28722775	39261912	41933298	54	2626											
FKBP10	60681	genome.wustl.edu	37	chr17	39974736	39974736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtcctggagagagaaggaaGattatcatccctccattcct	9	10	1	3	rs369189363		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:39974736G>A	ENST00000321562.4	+	4	788	c.684G>A	c.(682-684)aaG>aaA	p.K228K	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	228	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGAGAAGGAAGATTATCATCC	0.557																																																	0								ENSG00000141756	G		1,4405	2.1+/-5.4	0,1,2202	117	96	103		684	4.6	1	17		103	0,8600		0,0,4300	no	coding-synonymous	FKBP10	NM_021939.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		228/583	39974736	1,13005	2203	4300	6503	FKBP10	SO:0001819	synonymous_variant	0			-	HGNC	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.684G>A	17.37:g.39974736G>A		Somatic	0	45	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	61	17.57	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	40	0	0	56	15.15	10	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.K228	ENST00000321562.4	37	c.684	CCDS11409.1	17																																																																																			-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.557	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	protein_coding	OTTHUMT00000257410.2	G	NM_021939	-		39974736	1	no_errors	ENST00000321562	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39974736	G	A	39974736	2	1	44	1	0	0	0	0	0	0	0	1	5904	933	33	2		2	FKBP10	17	39974736	Silent	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	712824	39974736	41220474	55	2627											
FZD2	2535	genome.wustl.edu	37	chr17	42636675	42636675	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcgggcttctggatctGgtcgggcaagacgctgcact	14	12	2	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr17:42636675G>C	ENST00000315323.3	+	1	1751	c.1619G>C	c.(1618-1620)tGg>tCg	p.W540S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	540					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|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)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCTGGATCTGGTCGGGCAAG	0.622																																																	0								ENSG00000180340						32	31	31					17																	42636675		2203	4300	6503	FZD2	SO:0001583	missense	0			-	HGNC	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1619G>C	17.37:g.42636675G>C	ENSP00000323901:p.Trp540Ser	Somatic	0	78	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	103	18.90	Q0VG82	Missense_Mutation	SNP	32	0	0	68	12.82	10	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.W540S	ENST00000315323.3	37	c.1619	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	18.93	3.728276	0.69074	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.83837	-1.77	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92990	0.7769	M	0.93328	3.405	0.80722	D	1	P	0.50528	0.936	P	0.62885	0.908	D	0.94896	0.8052	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	540	Q14332	FZD2_HUMAN	S	616;540	ENSP00000323901:W540S	ENSP00000323901:W540S	W	+	2	0	FZD2	39992201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.866000	0.99616	2.236000	0.73375	0.555000	0.69702	TGG	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.622	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	protein_coding	OTTHUMT00000457806.1	G	NM_001466	-		42636675	1	no_errors	ENST00000315323	ensembl	human	known	74_37	missense	SNP	1.000	C	C	42636675	G	C	42636675	3	2	44	1	0	0	0	0	1	0	0	0	6132	1357	47	4	1621	4	FZD2	17	42636675	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	2661939	42636675	38558535	56	2628											
DCC	1630	genome.wustl.edu	37	chr18	50592510	50592510	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaaatgcccagaccaGtgcacagctcattgtcccta	10	13	1	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr18:50592510G>T	ENST00000442544.2	+	7	1851	c.1235G>T	c.(1234-1236)aGt>aTt	p.S412I	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.S260I|DCC_ENST00000581580.1_Missense_Mutation_p.S67I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	412	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCAGACCAGTGCACAGCTC	0.448																																																	0								ENSG00000187323						148	134	139					18																	50592510		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1235G>T	18.37:g.50592510G>T	ENSP00000389140:p.Ser412Ile	Somatic	0	89	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00		Missense_Mutation	SNP	19	0	0	26	16.13	5	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S412I	ENST00000442544.2	37	c.1235	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945701	0.34377	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.69040	-0.37;-0.37	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119195	0.56097	D	0.000024	T	0.76884	0.4050	M	0.72479	2.2	0.41925	D	0.990533	P;D;P	0.56287	0.82;0.975;0.705	B;P;P	0.60173	0.376;0.87;0.479	T	0.79305	-0.1858	10	0.66056	D	0.02	.	11.2813	0.49197	0.085:0.0:0.915:0.0	.	260;260;412	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	412;345;260	ENSP00000389140:S412I;ENSP00000397322:S260I	ENSP00000304146:S345I	S	+	2	0	DCC	48846508	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.256000	0.51492	2.497000	0.84241	0.650000	0.86243	AGT	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50592510	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50592510	G	T	50592510	3	4	44	1	0	0	0	0	1	0	0	0	4284	1029	36	3	1261	3	DCC	18	50592510	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		50592510	27484738	57	2629											
TLE2	7089	genome.wustl.edu	37	chr19	3019293	3019293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactcacctctggacccctCggcctccacgcccgcacggt	8	22	2	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr19:3019293C>T	ENST00000262953.6	-	7	800	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TLE2_ENST00000455444.2_Intron|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.E181K|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.E194K|TLE2_ENST00000443826.3_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.E194K|TLE2_ENST00000447365.2_5'UTR	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	180	Gly/Pro-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CTGGACCCCTCGGCCTCCACG	0.697																																																	0								ENSG00000065717						6	8	7					19																	3019293		2028	4111	6139	TLE2	SO:0001583	missense	0			-	HGNC	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.538G>A	19.37:g.3019293C>T	ENSP00000262953:p.Glu180Lys	Somatic	0	68	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	51	29.73	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	39	0	0	32	21.95	9	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E180K	ENST00000262953.6	37	c.538	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557652	0.13436	.	.	ENSG00000065717	ENST00000262953;ENST00000450017;ENST00000426948	T;T	0.53857	0.6;0.84	4.43	2.13	0.27403	.	0.218848	0.39146	N	0.001452	T	0.24547	0.0595	N	0.08118	0	0.22562	N	0.998988	B;B	0.21821	0.061;0.027	B;B	0.15052	0.012;0.011	T	0.14008	-1.0488	10	0.13853	T	0.58	-0.0066	6.4082	0.21676	0.0:0.6992:0.191:0.1098	.	194;180	F8WCH2;Q04725	.;TLE2_HUMAN	K	180;174;194	ENSP00000262953:E180K;ENSP00000392869:E194K	ENSP00000262953:E180K	E	-	1	0	TLE2	2970293	0.994000	0.37717	0.880000	0.34516	0.204000	0.24138	3.252000	0.51461	0.926000	0.37118	0.491000	0.48974	GAG	-	NULL		0.697	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	protein_coding	OTTHUMT00000452194.2	C	NM_003260	-		3019293	-1	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	SNP	0.679	T	T	3019293	C	T	3019293	3	4	44	1	0	0	0	0	1	0	0	0	15946	893	31	1	1749	1	TLE2	19	3019293	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09		3019293	56109690	58	2630											
APBA3	9546	genome.wustl.edu	37	chr19	3759868	3759868	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcggggggcaggctctAgaggctcttcaggaccagtc	15	11	3	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr19:3759868A>C	ENST00000316757.3	-	2	595	c.395T>G	c.(394-396)cTa>cGa	p.L132R	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	132					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGGCTCTAGAGGCTCTTC	0.662																																																	0								ENSG00000011132						31	39	36					19																	3759868		2201	4297	6498	APBA3	SO:0001583	missense	0			-	HGNC	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.395T>G	19.37:g.3759868A>C	ENSP00000315136:p.Leu132Arg	Somatic	0	57	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	O60483|Q9UPZ2	Missense_Mutation	SNP	59	0	0	31	46.55	27	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.L132R	ENST00000316757.3	37	c.395	CCDS12110.1	19	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.463034	0.01062	.	.	ENSG00000011132	ENST00000316757	T	0.06528	3.29	4.8	1.02	0.19986	.	1.177780	0.06287	N	0.698437	T	0.04272	0.0118	N	0.24115	0.695	0.09310	N	1	B	0.20671	0.047	B	0.14578	0.011	T	0.46527	-0.9185	10	0.16420	T	0.52	.	4.3894	0.11332	0.3095:0.0:0.5188:0.1716	.	132	O96018	APBA3_HUMAN	R	132	ENSP00000315136:L132R	ENSP00000315136:L132R	L	-	2	0	APBA3	3710868	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.456000	0.06754	0.446000	0.26666	-0.375000	0.07067	CTA	-	NULL		0.662	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	protein_coding	OTTHUMT00000453634.2	A		-		3759868	-1	no_errors	ENST00000316757	ensembl	human	known	74_37	missense	SNP	0.000	C	C	3759868	A	C	3759868	3	2	44	1	0	0	0	0	1	0	0	0	758	420	15	5	1372	5	APBA3	19	3759868	Missense_Mutation	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09	740575	3759868	55369115	59	2631											
APLP1	333	genome.wustl.edu	37	chr19	36365487	36365487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaacccacgccacccgcGtcatcgcccttatcaacgac	7	18	2	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr19:36365487G>A	ENST00000221891.4	+	9	1330	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	APLP1_ENST00000537454.2_Missense_Mutation_p.V341I|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.V374I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	380					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCACCCGCGTCATCGCCCT	0.677																																																	0								ENSG00000105290						62	66	65					19																	36365487		2203	4300	6503	APLP1	SO:0001583	missense	0			-	HGNC	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1138G>A	19.37:g.36365487G>A	ENSP00000221891:p.Val380Ile	Somatic	0	35	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	O00113|Q96A92	Missense_Mutation	SNP	35	0	0	21	53.33	24	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.V380I	ENST00000221891.4	37	c.1138	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400826	0.62177	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.51071	0.72;0.72	4.51	4.51	0.55191	Amyloidogenic glycoprotein, E2 domain (2);	0.159512	0.29459	N	0.012096	T	0.59514	0.2199	M	0.71036	2.16	0.58432	D	0.999999	P;P;D;D	0.71674	0.899;0.946;0.998;0.998	B;B;P;P	0.54312	0.339;0.368;0.633;0.748	T	0.62072	-0.6931	10	0.40728	T	0.16	-14.8541	14.718	0.69284	0.0:0.0:1.0:0.0	.	374;341;380;380	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	341;380	ENSP00000441501:V341I;ENSP00000221891:V380I	ENSP00000221891:V380I	V	+	1	0	APLP1	41057327	1.000000	0.71417	0.993000	0.49108	0.677000	0.39632	8.949000	0.93012	2.058000	0.61347	0.555000	0.69702	GTC	-	superfamily_Amyloid_glyco_E2_domain		0.677	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	protein_coding	OTTHUMT00000452564.1	G	NM_001024807	-		36365487	1	no_errors	ENST00000221891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36365487	G	A	36365487	3	1	44	1	0	0	0	0	1	0	0	0	778	1145	40	1	1172	1	APLP1	19	36365487	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09	32605619	36365487	22763496	60	2632											
CEACAM4	1089	genome.wustl.edu	37	chr19	42133313	42133313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgccctccacggggagCggctgagggggggcccatgg	19	13	0	1	rs112325334		TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr19:42133313C>T	ENST00000221954.2	-	1	129	c.19G>A	c.(19-21)Gct>Act	p.A7T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A7T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	7						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACGGGGAGCGGCTGAGGGG	0.652													C|||	1	0.000199681	0	0	5008	,	,		16213	0.001		0	False		,,,				2504	0																0								ENSG00000105352						26	28	28					19																	42133313		2203	4300	6503	CEACAM4	SO:0001583	missense	0			-	HGNC	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.19G>A	19.37:g.42133313C>T	ENSP00000221954:p.Ala7Thr	Somatic	0	53	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	Q03715|Q7LDZ7	Missense_Mutation	SNP	47	0	0	24	47.83	22	pfam_Ig_V-set,pfscan_Ig-like_dom	p.A7T	ENST00000221954.2	37	c.19	CCDS33033.1	19	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700281	0.30142	.	.	ENSG00000105352	ENST00000221954	T	0.01221	5.15	2.28	-4.56	0.03431	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	B;B	0.32188	0.359;0.11	B;B	0.21546	0.035;0.026	T	0.49204	-0.8964	9	0.15499	T	0.54	.	3.871	0.09036	0.3055:0.4072:0.2873:0.0	.	7;7	E7EMX3;O75871	.;CEAM4_HUMAN	T	7	ENSP00000221954:A7T	ENSP00000221954:A7T	A	-	1	0	CEACAM4	46825153	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.436000	0.00471	-0.545000	0.06224	0.195000	0.17529	GCT	-	NULL		0.652	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM4	protein_coding	OTTHUMT00000321148.1	C	NM_001817	rs112325334		42133313	-1	no_errors	ENST00000221954	ensembl	human	known	74_37	missense	SNP	0.000	T	T	42133313	C	T	42133313	3	4	44	1	0	0	0	0	1	0	0	0	3196	768	27	1	743	1	CEACAM4	19	42133313	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	5767826	42133313	16995670	61	2633											
PEG3	5178	genome.wustl.edu	37	chr19	57334999	57334999	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtggtgaggactctcttCtgttccgggtcatgtcgtcg	15	9	3	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr19:57334999C>A	ENST00000326441.9	-	5	806	c.443G>T	c.(442-444)aGa>aTa	p.R148I	ZIM2_ENST00000599935.1_Missense_Mutation_p.R22I|ZIM2_ENST00000221722.5_Missense_Mutation_p.R22I|ZIM2_ENST00000593711.1_Missense_Mutation_p.R22I|PEG3_ENST00000423103.2_Missense_Mutation_p.R148I|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000593695.1_Missense_Mutation_p.R22I|PEG3_ENST00000598410.1_Missense_Mutation_p.R22I|ZIM2_ENST00000391708.3_Missense_Mutation_p.R22I|ZIM2_ENST00000601070.1_Missense_Mutation_p.R22I|ZIM2_ENST00000593931.1_Missense_Mutation_p.R22I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	148					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGACTCTCTTCTGTTCCGGGT	0.552																																																	0								ENSG00000198300						301	216	245					19																	57334999		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.443G>T	19.37:g.57334999C>A	ENSP00000326581:p.Arg148Ile	Somatic	0	151	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	101	9.01	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	46	0	0	35	14.63	6	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R148I	ENST00000326441.9	37	c.443	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032106	0.54790	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04502	3.61;3.61;4.2;4.2	4.07	0.727	0.18254	Transcription regulator SCAN (1);	0.737030	0.11801	N	0.528126	T	0.02571	0.0078	N	0.14661	0.345	.	.	.	B;B;B;B	0.26002	0.08;0.08;0.035;0.139	B;B;B;B	0.21151	0.011;0.016;0.007;0.033	T	0.39800	-0.9596	9	0.46703	T	0.11	-2.0347	2.418	0.04441	0.1907:0.4962:0.2053:0.1078	.	22;148;81;22	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	I	22;22;148;148;148	ENSP00000375589:R22I;ENSP00000221722:R22I;ENSP00000326581:R148I;ENSP00000403051:R148I	ENSP00000221722:R22I	R	-	2	0	ZIM2	62026811	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.096000	0.11059	0.270000	0.21984	0.655000	0.94253	AGA	-	smart_Tscrpt_reg_SCAN		0.552	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57334999	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57334999	C	A	57334999	3	1	44	1	0	0	0	0	1	0	0	0	11722	913	32	3	4353	3	PEG3	19	57334999	Missense_Mutation	SNP	C	TCGA-DX-A3M1-01A-11D-A228-09	15201686	57334999	1793984	62	2634											
PRMT2	3275	genome.wustl.edu	37	chr21	48084213	48084214	+	Frame_Shift_Ins	INS	-	-	AA													ttatctttttcaggttggagINSaaaaagtcttccccatctgg							TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr21:48084213_48084214insAA	ENST00000397637.1	+	11	2230_2231	c.1276_1277insAA	c.(1276-1278)gaafs	p.E426fs	PRMT2_ENST00000355680.3_Frame_Shift_Ins_p.E426fs|PRMT2_ENST00000451211.2_Frame_Shift_Ins_p.K280fs|PRMT2_ENST00000291705.6_Frame_Shift_Ins_p.E221fs|PRMT2_ENST00000397638.2_Frame_Shift_Ins_p.E426fs|PRMT2_ENST00000440086.1_Frame_Shift_Ins_p.E324fs|PRMT2_ENST00000458387.2_Frame_Shift_Ins_p.RK278fs			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	426	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCAGGTTGGAGAAAAAGTCTTC	0.371																																																	0								ENSG00000160310																																			PRMT2	SO:0001589	frameshift_variant	0				HGNC	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.1279_1280dupAA	21.37:g.48084216_48084217dupAA	ENSP00000380759:p.Glu426fs	Somatic	0	50	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Frame_Shift_Ins	INS	39	0	0	80	13.04	12	pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.V428fs	ENST00000397637.1	37	c.1276_1277	CCDS13737.1	21																																																																																			-	NULL		0.371	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	protein_coding	OTTHUMT00000207401.1	-	NM_001535			48084214	1	no_errors	ENST00000355680	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:0.995	AA	AA	48084214	-	AA	48084213	7	5	44	1	0	1	1	0	0	0	0	0	12542	943	33	0	1314	0	PRMT2	21	48084213	Frame_Shift_Ins	INS	-	TCGA-DX-A3M1-01A-11D-A228-09		48084213	45682	63	2635											
PPARA	5465	genome.wustl.edu	37	chr22	46611070	46611070	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctctttttccccagAcacgctttcaccagcttcga	4	17	3	1			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chr22:46611070A>G	ENST00000396000.2	+	4	474	c.209A>G	c.(208-210)gAc>gGc	p.D70G	PPARA_ENST00000407236.1_Splice_Site_p.D70G|PPARA_ENST00000434345.2_Splice_Site_p.D70G|PPARA_ENST00000402126.1_Splice_Site_p.D70G|PPARA_ENST00000262735.5_Splice_Site_p.D70G			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	70					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TTTTCCCCAGACACGCTTTCA	0.532																																																	0								ENSG00000186951						81	72	75					22																	46611070		2203	4300	6503	PPARA	SO:0001630	splice_region_variant	0			-	HGNC	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.209-1A>G	22.37:g.46611070A>G		Somatic	0	78	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	21	46.15	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	44	0	0	21	38.24	13	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D70G	ENST00000396000.2	37	c.209	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667060	0.67814	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.97404	-3.35;-3.35;-4.37;-3.35;-3.35;-3.18	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	P;P	0.56865	0.808;0.808	D	0.97358	0.9968	9	.	.	.	.	14.5571	0.68109	1.0:0.0:0.0:0.0	.	70;70	F1D8S4;Q07869	.;PPARA_HUMAN	G	70	ENSP00000379322:D70G;ENSP00000262735:D70G;ENSP00000414752:D70G;ENSP00000385523:D70G;ENSP00000385246:D70G;ENSP00000408149:D70G	.	D	+	2	0	PPARA	44989734	1.000000	0.71417	0.823000	0.32752	0.254000	0.26022	6.850000	0.75420	2.088000	0.63022	0.482000	0.46254	GAC	-	prints_1Cnucl_rcpt_A		0.532	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	protein_coding	OTTHUMT00000318129.3	A	NM_001001928	-	Missense_Mutation	46611070	1	no_errors	ENST00000262735	ensembl	human	known	74_37	missense	SNP	1.000	G	G	46611070	A	G	46611070	5	3	44	1	0	0	0	0	0	0	1	0	12299	289	10	5	215	5	PPARA	22	46611070	Splice_Site	SNP	A	TCGA-DX-A3M1-01A-11D-A228-09		46611070	4693496	64	2636											
CDX4	1046	genome.wustl.edu	37	chrX	72667297	72667297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcactggccgtctctgGgagtctggggctcaccctac	11	15	4	0			TCGA-DX-A3M1-01A-11D-A228-09	TCGA-DX-A3M1-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72f0a49a-aec8-47e5-846a-956c4da1507c	d732488f-aa89-4ee1-8915-c6ba1c5a5c44	g.chrX:72667297G>A	ENST00000373514.2	+	1	208	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	70					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCGTCTCTGGGAGTCTGGGG	0.602																																																	0								ENSG00000131264						57	47	51					X																	72667297		2203	4300	6503	CDX4	SO:0001583	missense	0			-	HGNC	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.208G>A	X.37:g.72667297G>A	ENSP00000362613:p.Gly70Arg	Somatic	0	32	0		0.731762716347244				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	39	59.79	A1A513|Q5JS20	Missense_Mutation	SNP	10	0	0	31	48.33	29	pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.G70R	ENST00000373514.2	37	c.208	CCDS14424.1	X	.	.	.	.	.	.	.	.	.	.	.	12.15	1.852487	0.32699	.	.	ENSG00000131264	ENST00000373514	T	0.51325	0.71	2.57	2.57	0.30868	Caudal-like activation domain (1);	0.310656	0.30676	N	0.009108	T	0.53126	0.1777	M	0.78637	2.42	0.52501	D	0.999956	D	0.58620	0.983	P	0.52793	0.709	T	0.56245	-0.8011	10	0.10111	T	0.7	-4.1599	10.3984	0.44214	0.0:0.0:1.0:0.0	.	70	O14627	CDX4_HUMAN	R	70	ENSP00000362613:G70R	ENSP00000362613:G70R	G	+	1	0	CDX4	72584022	1.000000	0.71417	0.024000	0.17045	0.108000	0.19459	4.570000	0.60872	1.561000	0.49584	0.436000	0.28706	GGA	-	pfam_Caudal_activation_dom		0.602	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX4	protein_coding	OTTHUMT00000057229.2	G	NM_005193	-		72667297	1	no_errors	ENST00000373514	ensembl	human	known	74_37	missense	SNP	0.880	A	A	72667297	G	A	72667297	3	1	44	1	0	0	0	0	1	0	0	0	3186	1233	43	2	210	2	CDX4	23	72667297	Missense_Mutation	SNP	G	TCGA-DX-A3M1-01A-11D-A228-09		72667297	82603263	65	2637											
ATAD3C	219293	genome.wustl.edu	37	chr1	1386075	1386075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccatgtcaaaggaCgccctgaatctggcgcagat	12	12	2	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642																																																	0								ENSG00000215915						31	28	29					1																	1386075		692	1591	2283	ATAD3C	SO:0001819	synonymous_variant	0			-	HGNC	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T		Somatic	0	71	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	Q8N1Z5	Silent	SNP							pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D4	ENST00000378785.2	37	c.12	CCDS44039.1	1																																																																																			-	NULL		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	protein_coding	OTTHUMT00000001279.3	C	NM_001039211	-		1386075	1	no_errors	ENST00000378785	ensembl	human	known	74_37	silent	SNP	0.972	T	T	1386075	C	T	1386075	2	4	45	1	0	0	0	0	0	0	0	1	1075	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		1386075	247864546	1	2638											
TAS1R1	80835	genome.wustl.edu	37	chr1	6635087	6635087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactggcaaggtgtgggtcGcctcagaagcctgggccctc	15	12	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:6635087G>A	ENST00000333172.6	+	3	1088	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A299T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	299					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)		GGTGTGGGTCGCCTCAGAAGC	0.647																																																	0								ENSG00000173662						36	41	39					1																	6635087		2203	4300	6503	TAS1R1	SO:0001583	missense	0			-	HGNC		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.895G>A	1.37:g.6635087G>A	ENSP00000331867:p.Ala299Thr	Somatic	0	32	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.A299T	ENST00000333172.6	37	c.895	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251435	0.80135	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.84730	-1.89;-1.89	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.055304	0.64402	D	0.000001	D	0.93572	0.7948	M	0.88450	2.955	0.45415	D	0.998397	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.973	D	0.94563	0.7764	10	0.87932	D	0	.	18.1607	0.89707	0.0:0.0:1.0:0.0	.	299;299	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	T	299	ENSP00000331867:A299T;ENSP00000327705:A299T	ENSP00000327705:A299T	A	+	1	0	TAS1R1	6557674	1.000000	0.71417	0.892000	0.35008	0.237000	0.25408	7.639000	0.83342	2.497000	0.84241	0.655000	0.94253	GCC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.647	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	protein_coding	OTTHUMT00000004211.1	G		-		6635087	1	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6635087	G	A	6635087	3	1	45	1	0	0	0	0	1	0	0	0	15569	1087	38	1	905	1	TAS1R1	1	6635087	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	5249012	6635087	242615534	2	2639											
FPGT	8790	genome.wustl.edu	37	chr1	74670983	74670983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgtggcacctggctcaGttgtggagtattccagattg	13	8	2	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:74670983G>A	ENST00000609362.1	+	4	1289	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.V431I|FPGT_ENST00000534056.1_Missense_Mutation_p.V164I|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Silent_p.Q145Q|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	418					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCTGGCTCAGTTGTGGAGTA	0.433																																																	0								ENSG00000254685						98	106	103					1																	74670983		2203	4299	6502	FPGT	SO:0001583	missense	0			-	HGNC	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1252G>A	1.37:g.74670983G>A	ENSP00000476680:p.Val418Ile	Somatic	0	68	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP							pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.V431I	ENST00000609362.1	37	c.1291	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089896	0.55968	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.36699	1.24;1.24	5.72	4.81	0.61882	L-fucokinase (1);	.	.	.	.	T	0.15349	0.0370	.	.	.	0.80722	D	1	P;B;P	0.38129	0.619;0.45;0.479	B;B;B	0.40228	0.323;0.214;0.318	T	0.04400	-1.0954	8	0.18710	T	0.47	.	11.1241	0.48308	0.192:0.0:0.808:0.0	.	164;43;418	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	I	418;164	ENSP00000359935:V418I;ENSP00000432819:V164I	ENSP00000359935:V418I	V	+	1	0	TNNI3K	74443571	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.773000	0.47686	1.421000	0.47157	0.655000	0.94253	GTT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase		0.433	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	protein_coding		G		-		74670983	1	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74670983	G	A	74670983	3	1	45	1	0	0	0	0	1	0	0	0	6039	1029	36	2	1266	2	FPGT	1	74670983	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	68035896	74670983	174579638	3	2640											
SLC6A17	388662	genome.wustl.edu	37	chr1	110714771	110714771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggtcagaggatccgcCgcggcagcatcggtgtgtgg	18	10	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:110714771C>T	ENST00000331565.4	+	3	861	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	126					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GAGGATCCGCCGCGGCAGCAT	0.622																																																	0								ENSG00000197106						60	44	49					1																	110714771		2203	4300	6503	SLC6A17	SO:0001583	missense	0			-	HGNC		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.376C>T	1.37:g.110714771C>T	ENSP00000330199:p.Arg126Cys	Somatic	0	93	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	78	24.27	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.R126C	ENST00000331565.4	37	c.376	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233857	0.79688	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75367	-0.93	5.19	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.80808	0.4694	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82910	-0.0223	10	0.87932	D	0	.	12.8853	0.58040	0.2926:0.7074:0.0:0.0	.	126	Q9H1V8	S6A17_HUMAN	C	126	ENSP00000330199:R126C	ENSP00000330199:R126C	R	+	1	0	SLC6A17	110516294	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.105000	0.50314	2.404000	0.81709	0.585000	0.79938	CGC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	protein_coding	OTTHUMT00000032550.2	C	XM_371280	-		110714771	1	no_errors	ENST00000331565	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110714771	C	T	110714771	3	4	45	1	0	0	0	0	1	0	0	0	14688	652	23	1	382	1	SLC6A17	1	110714771	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	36043788	110714771	138535850	4	2641											
CASQ2	845	genome.wustl.edu	37	chr1	116247891	116247891	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcccgggcaacctgtttcagGatctccaggaattcgtagcc	10	13	2	0	rs143718767	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:116247891G>T	ENST00000261448.5	-	9	1100	c.861C>A	c.(859-861)atC>atA	p.I287I	CASQ2_ENST00000456138.2_Silent_p.I216I	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	287					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTGTTTCAGGATCTCCAGGA	0.522																																																	0								ENSG00000118729	G		4,4402	8.1+/-20.4	0,4,2199	115	111	113		861	4.7	1	1	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous	CASQ2	NM_001232.3		0,4,6499	TT,TG,GG		0.0,0.0908,0.0308		287/400	116247891	4,13002	2203	4300	6503	CASQ2	SO:0001819	synonymous_variant	0			-	HGNC	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.861C>A	1.37:g.116247891G>T		Somatic	0	56	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP							pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.I287	ENST00000261448.5	37	c.861	CCDS884.1	1																																																																																			-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold		0.522	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	protein_coding	OTTHUMT00000033091.1	G	NM_001232	rs143718767		116247891	-1	no_errors	ENST00000261448	ensembl	human	known	74_37	silent	SNP	1.000	T	T	116247891	G	T	116247891	2	4	45	1	0	0	0	0	0	0	0	1	2683	1164	41	3		3	CASQ2	1	116247891	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	5533120	116247891	133002730	5	2642											
RASAL2	9462	genome.wustl.edu	37	chr1	178427542	178427542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttctttacgtagcaccGggagcatgtcagtggtgtcc	13	10	2	0	rs368617203		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:178427542G>A	ENST00000462775.1	+	12	2817	c.2692G>A	c.(2692-2694)Ggg>Agg	p.G898R	RASAL2_ENST00000367649.3_Missense_Mutation_p.G1039R|RASAL2_ENST00000448150.3_Missense_Mutation_p.G1028R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	898					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.G1039R(1)|p.G1028R(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ACGTAGCACCGGGAGCATGTC	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		17455	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)						ENSG00000075391	G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	55	56	55		2692,3115	5.5	1	1		55	0,8600		0,0,4300	no	missense,missense	RASAL2	NM_004841.3,NM_170692.2	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	898/1140,1039/1281	178427542	1,13005	2203	4300	6503	RASAL2	SO:0001583	missense	0			-	HGNC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2692G>A	1.37:g.178427542G>A	ENSP00000420558:p.Gly898Arg	Somatic	0	59	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP							pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.G1039R	ENST00000462775.1	37	c.3115	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.03|19.03	3.747873|3.747873	0.69533|0.69533	2.27E-4|2.27E-4	0.0|0.0	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.15487|.	2.42;2.42;2.42|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.257336|.	0.37530|.	N|.	0.002042|.	T|T	0.70710|0.70710	0.3255|0.3255	L|L	0.50333|0.50333	1.59|1.59	0.47621|0.47621	D|D	0.99947|0.99947	P;D;P|.	0.60160|.	0.952;0.987;0.862|.	B;P;B|.	0.53518|.	0.363;0.728;0.2|.	T|T	0.66897|0.66897	-0.5807|-0.5807	10|5	0.20046|.	T|.	0.44|.	.|.	19.321|19.321	0.94240|0.94240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1028;898;1039|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	R|Q	1028;1039;898|448	ENSP00000407768:G1028R;ENSP00000356621:G1039R;ENSP00000420558:G898R|.	ENSP00000356621:G1039R|.	G|R	+|+	1|2	0|0	RASAL2|RASAL2	176694165|176694165	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.965000|0.965000	0.64279|0.64279	3.270000|3.270000	0.51600|0.51600	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GGG|CGG	-	pfam_DUF3498		0.627	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000084758.3	G	NM_170692	-		178427542	1	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	SNP	0.994	A	A	178427542	G	A	178427542	3	1	45	1	0	0	0	0	1	0	0	0	13072	1116	39	1	3207	1	RASAL2	1	178427542	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	62179651	178427542	70823079	6	2643											
CEP350	9857	genome.wustl.edu	37	chr1	179983057	179983057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaaagaaactcagaacGttcgagaagtaaatctcggt	8	8	4	3			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:179983057G>A	ENST00000367607.3	+	10	1887	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	490					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTCAGAACGTTCGAGAAGT	0.378																																																	0								ENSG00000135837						63	66	65					1																	179983057		2203	4300	6503	CEP350	SO:0001583	missense	0			-	HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1469G>A	1.37:g.179983057G>A	ENSP00000356579:p.Arg490His	Somatic	0	44	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.R490H	ENST00000367607.3	37	c.1469	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029035	0.54790	.	.	ENSG00000135837	ENST00000367607	T	0.13657	2.57	5.78	4.87	0.63330	.	0.130398	0.35207	N	0.003369	T	0.15046	0.0363	M	0.70595	2.14	0.46954	D	0.999269	B;P	0.34587	0.066;0.458	B;B	0.22880	0.01;0.042	T	0.02893	-1.1097	9	.	.	.	.	12.9124	0.58187	0.0757:0.0:0.9243:0.0	.	490;490	E7EU22;Q5VT06	.;CE350_HUMAN	H	490	ENSP00000356579:R490H	.	R	+	2	0	CEP350	178249680	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.219000	0.51200	1.443000	0.47586	0.650000	0.86243	CGT	-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	G	NM_014810	-		179983057	1	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179983057	G	A	179983057	3	1	45	1	0	0	0	0	1	0	0	0	3256	1145	40	1	1503	1	CEP350	1	179983057	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	1555515	179983057	69267564	7	2644											
CACNA1E	777	genome.wustl.edu	37	chr1	181727998	181727998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggtcatcgcttttggCtttttggtatgttgctgaat	11	6	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:181727998C>A	ENST00000367573.2	+	32	4599	c.4599C>A	c.(4597-4599)ggC>ggA	p.G1533G	CACNA1E_ENST00000367570.1_Silent_p.G1533G|CACNA1E_ENST00000367567.4_Silent_p.G1140G|CACNA1E_ENST00000358338.5_Silent_p.G1465G|CACNA1E_ENST00000526775.1_Silent_p.G1514G|CACNA1E_ENST00000357570.5_Silent_p.G1484G|CACNA1E_ENST00000360108.3_Silent_p.G1514G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1533					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						TCGCTTTTGGCTTTTTGGTAT	0.498																																																	0								ENSG00000198216						208	189	195					1																	181727998		1973	4160	6133	CACNA1E	SO:0001819	synonymous_variant	0			-	HGNC	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.4599C>A	1.37:g.181727998C>A		Somatic	0	164	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	160	10.61	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G1533	ENST00000367573.2	37	c.4599	CCDS55664.1	1																																																																																			-	pfam_Ion_trans_dom		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721	-		181727998	1	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	SNP	1.000	A	A	181727998	C	A	181727998	2	1	45	1	0	0	0	0	0	0	0	1	2544	784	28	3		3	CACNA1E	1	181727998	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	1744941	181727998	67522623	8	2645											
OBSCN	84033	genome.wustl.edu	37	chr1	228451900	228451900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtgccacgctgagctgcGaggtggcccaggcccagaca	14	15	0	2	rs373860140		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:228451900G>A	ENST00000422127.1	+	16	4713	c.4669G>A	c.(4669-4671)Gag>Aag	p.E1557K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1741K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1557K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E213K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1557	Ig-like 16.				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)				GCTGAGCTGCGAGGTGGCCCA	0.652																																																	0								ENSG00000154358	G	LYS/GLU,LYS/GLU	0,4178		0,0,2089	59	63	62		4669,4669	4.8	1	1		62	1,8413		0,1,4206	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	0,1,6295	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging	1557/7969,1557/6621	228451900	1,12591	2089	4207	6296	OBSCN	SO:0001583	missense	0			-	HGNC	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.4669G>A	1.37:g.228451900G>A	ENSP00000409493:p.Glu1557Lys	Somatic	0	161	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	96	26.72	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E1557K	ENST00000422127.1	37	c.4669	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.251337	0.80135	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.66280	-0.2;-0.2;-0.2	4.82	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.72581	0.3478	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.69654	0.965;0.964	T	0.69157	-0.5219	10	0.30078	T	0.28	.	18.0865	0.89458	0.0:0.0:1.0:0.0	.	1557;1557	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1557;1557;213	ENSP00000284548:E1557K;ENSP00000409493:E1557K;ENSP00000352613:E213K	ENSP00000284548:E1557K	E	+	1	0	OBSCN	226518523	0.952000	0.32445	0.990000	0.47175	0.336000	0.28762	1.464000	0.35288	2.509000	0.84616	0.591000	0.81541	GAG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228451900	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	1.000	A	A	228451900	G	A	228451900	3	1	45	1	0	0	0	0	1	0	0	0	10814	1059	37	1	4727	1	OBSCN	1	228451900	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	46723902	228451900	20798721	9	2646											
SCN3A	6328	genome.wustl.edu	37	chr2	166011012	166011012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgagcatctgctgaaattCggcctctttttgttctgctt	8	10	3	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr2:166011012C>T	ENST00000360093.3	-	11	1821	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E444K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E444K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	444					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)	TGCTGAAATTCGGCCTCTTTT	0.413																																																	0								ENSG00000153253						118	114	116					2																	166011012		2203	4300	6503	SCN3A	SO:0001583	missense	0			-	HGNC	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.1330G>A	2.37:g.166011012C>T	ENSP00000353206:p.Glu444Lys	Somatic	0	77	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	51	36.25	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E444K	ENST00000360093.3	37	c.1330		2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815684	0.70912	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96802	-4.13;-4.13;-4.1;-4.03	5.6	5.6	0.85130	.	0.099447	0.43919	D	0.000514	D	0.97636	0.9225	M	0.63169	1.94	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.76575	0.972;0.972;0.988;0.988;0.988	D	0.96854	0.9627	10	0.33940	T	0.23	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	444;444;444;444;444	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	444	ENSP00000353206:E444K;ENSP00000283254:E444K;ENSP00000386726:E444K;ENSP00000403348:E444K	ENSP00000283254:E444K	E	-	1	0	SCN3A	165719258	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.818000	0.86416	2.636000	0.89361	0.591000	0.81541	GAA	-	NULL		0.413	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		C	NM_006922	-		166011012	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166011012	C	T	166011012	3	4	45	1	0	0	0	0	1	0	0	0	13926	893	31	1	4744	1	SCN3A	2	166011012	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		166011012	77188361	10	2647											
GLB1	2720	genome.wustl.edu	37	chr3	33058210	33058210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtcctaccttaaaatcGttgatatatgcaccatagtt	6	8	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr3:33058210G>A	ENST00000399402.3	-	14	1511	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000307377.8_Silent_p.N359N|GLB1_ENST00000307363.5_Silent_p.N490N|GLB1_ENST00000445488.2_Silent_p.N538N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	490					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCTTAAAATCGTTGATATATG	0.448																																																	0								ENSG00000170266						253	245	247					3																	33058210		1960	4154	6114	GLB1	SO:0001819	synonymous_variant	0			-	HGNC	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1380C>T	3.37:g.33058210G>A		Somatic	0	62	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	B2R7H8|B7Z6B0|P16279	Silent	SNP							pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.N538	ENST00000399402.3	37	c.1614	CCDS43062.1	3																																																																																			-	superfamily_Galactose-bd-like		0.448	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	protein_coding	OTTHUMT00000341570.2	G	NM_000404	-		33058210	-1	no_errors	ENST00000445488	ensembl	human	known	74_37	silent	SNP	0.169	A	A	33058210	G	A	33058210	2	1	45	1	0	0	0	0	0	0	0	1	6429	1136	40	1		1	GLB1	3	33058210	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		33058210	164964220	11	2648											
QTRTD1	79691	genome.wustl.edu	37	chr3	113804664	113804664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacaactttgaacactaCtttgggtttttccattacat	5	9	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr3:113804664C>T	ENST00000493014.1	+	6	911	c.843C>T	c.(841-843)taC>taT	p.Y281Y	QTRTD1_ENST00000281273.4_Silent_p.Y387Y|QTRTD1_ENST00000479882.1_Silent_p.Y264Y|QTRTD1_ENST00000485050.1_Silent_p.Y399Y	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TTGAACACTACTTTGGGTTTT	0.463																																																	0								ENSG00000151576						183	154	164					3																	113804664		2203	4300	6503	QTRTD1	SO:0001819	synonymous_variant	0			-	HGNC	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.843C>T	3.37:g.113804664C>T		Somatic	0	124	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	115	10.16		Silent	SNP							pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like	p.Y387	ENST00000493014.1	37	c.1161	CCDS58845.1	3																																																																																			-	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like		0.463	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	protein_coding	OTTHUMT00000354711.1	C	NM_024638	-		113804664	1	no_errors	ENST00000281273	ensembl	human	known	74_37	silent	SNP	0.995	T	T	113804664	C	T	113804664	2	4	45	1	0	0	0	0	0	0	0	1	12894	576	20	2		2	QTRTD1	3	113804664	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	80746454	113804664	84217766	12	2649											
CCDC37	348807	genome.wustl.edu	37	chr3	126139062	126139062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcgagtccagcggtggcGactccagagggtgagtgggc	18	11	0	2	rs377186686		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr3:126139062G>A	ENST00000352312.1	+	11	1171	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	CCDC37_ENST00000505024.1_Missense_Mutation_p.D359N|CCDC37_ENST00000393425.1_Missense_Mutation_p.D359N	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	358										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGCGGTGGCGACTCCAGAGG	0.672																																																	0								ENSG00000163885						22	26	25					3																	126139062		2198	4292	6490	CCDC37	SO:0001583	missense	0			-	HGNC	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1072G>A	3.37:g.126139062G>A	ENSP00000344749:p.Asp358Asn	Somatic	0	75	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.27	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP							superfamily_SuperAg_toxin_C	p.D359N	ENST00000352312.1	37	c.1075	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639213	0.14386	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.31769	1.48;1.48;1.48	3.2	0.354	0.16063	.	1.574570	0.02954	N	0.142188	T	0.24812	0.0602	L	0.33485	1.01	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.0	T	0.18840	-1.0324	10	0.29301	T	0.29	-11.9289	7.7761	0.29037	0.245:0.0:0.755:0.0	.	359;358	Q494V2-2;Q494V2	.;CCD37_HUMAN	N	358;359;359	ENSP00000344749:D358N;ENSP00000377076:D359N;ENSP00000423046:D359N	ENSP00000344749:D358N	D	+	1	0	CCDC37	127621752	0.021000	0.18746	0.000000	0.03702	0.115000	0.19883	0.741000	0.26202	0.060000	0.16281	-0.752000	0.03492	GAC	-	NULL		0.672	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	protein_coding	OTTHUMT00000370099.4	G	NM_182628	-		126139062	1	no_errors	ENST00000393425	ensembl	human	known	74_37	missense	SNP	0.000	A	A	126139062	G	A	126139062	3	1	45	1	0	0	0	0	1	0	0	0	2811	1058	37	1	1110	1	CCDC37	3	126139062	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	12334398	126139062	71883368	13	2650											
HTT	3064	genome.wustl.edu	37	chr4	3215720	3215720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccatgagcagatcccGctgagtctggatctccaggc	11	12	2	4	rs370817761		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr4:3215720G>A	ENST00000355072.5	+	50	6955	c.6810G>A	c.(6808-6810)ccG>ccA	p.P2270P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2270					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCAGATCCCGCTGAGTCTGG	0.597																																																	0								ENSG00000197386	G		0,4120		0,0,2060	67	72	70		6810	-10.7	0.8	4		70	1,8363		0,1,4181	no	coding-synonymous	HTT	NM_002111.6		0,1,6241	AA,AG,GG		0.012,0.0,0.0080		2270/3143	3215720	1,12483	2060	4182	6242	HTT	SO:0001819	synonymous_variant	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6810G>A	4.37:g.3215720G>A		Somatic	0	45	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	Q9UQB7	Silent	SNP							pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.P2270	ENST00000355072.5	37	c.6810	CCDS43206.1	4																																																																																			-	NULL		0.597	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	G	NM_002111	-		3215720	1	no_errors	ENST00000355072	ensembl	human	known	74_37	silent	SNP	0.508	A	A	3215720	G	A	3215720	2	1	45	1	0	0	0	0	0	0	0	1	7459	1074	38	1		1	HTT	4	3215720	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		3215720	187938556	14	2651											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6082016	6082016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtatgccgcttcagagaCgcctgcgctgacagcttttc	12	12	1	2	rs150623866		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr4:6082016C>T	ENST00000282924.5	-	7	1610	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	JAKMIP1_ENST00000410077.2_Silent_p.A210A|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000409021.3_Silent_p.A375A	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCAGAGACGCCTGCGCTG	0.577													C|||	1	0.000199681	0	0	5008	,	,		19780	0.001		0	False		,,,				2504	0																0								ENSG00000152969	C	,	0,4406		0,0,2203	81	68	73		1125,1125	-3.3	0.1	4	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/832,375/627	6082016	1,13005	2203	4300	6503	JAKMIP1	SO:0001819	synonymous_variant	0			-	HGNC	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1125G>A	4.37:g.6082016C>T		Somatic	0	59	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP							NULL	p.A375	ENST00000282924.5	37	c.1125	CCDS3385.1	4																																																																																			-	NULL		0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	protein_coding	OTTHUMT00000246816.2	C	NM_144720	rs150623866		6082016	-1	no_errors	ENST00000409021	ensembl	human	known	74_37	silent	SNP	0.048	T	T	6082016	C	T	6082016	2	4	45	1	0	0	0	0	0	0	0	1	7942	523	19	1		1	JAKMIP1	4	6082016	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	2866296	6082016	185072260	15	2652											
SPEF2	79925	genome.wustl.edu	37	chr5	35793303	35793303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagtcaactccgagttcGtggactggcggaagttcctg	12	10	1	0	rs200747497		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:35793303G>A	ENST00000356031.3	+	32	4751	c.4597G>A	c.(4597-4599)Gtg>Atg	p.V1533M	SPEF2_ENST00000440995.2_Missense_Mutation_p.V1528M|SPEF2_ENST00000303129.4_Missense_Mutation_p.V330M|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1533					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCGAGTTCGTGGACTGGCG	0.423																																																	0								ENSG00000152582	G	MET/VAL	0,3778		0,0,1889	100	94	96		4597	5.9	1	5		96	1,8219		0,1,4109	no	missense	SPEF2	NM_024867.3	21	0,1,5998	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	1533/1823	35793303	1,11997	1889	4110	5999	SPEF2	SO:0001583	missense	0			-	HGNC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4597G>A	5.37:g.35793303G>A	ENSP00000348314:p.Val1533Met	Somatic	0	23	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP							pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.V1533M	ENST00000356031.3	37	c.4597	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179248	0.57800	0.0	1.22E-4	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.70045	-0.45;-0.45;-0.16	5.87	5.87	0.94306	.	0.166677	0.42172	D	0.000758	T	0.78830	0.4345	L	0.56769	1.78	0.32794	N	0.500775	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.992	D	0.83427	0.0036	10	0.72032	D	0.01	.	14.3787	0.66897	0.0724:0.0:0.9276:0.0	.	330;1528;1533	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	M	1533;1528;330	ENSP00000348314:V1533M;ENSP00000412125:V1528M;ENSP00000303843:V330M	ENSP00000303843:V330M	V	+	1	0	SPEF2	35829060	0.998000	0.40836	0.989000	0.46669	0.353000	0.29299	2.966000	0.49208	2.775000	0.95449	0.650000	0.86243	GTG	-	NULL		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	protein_coding	OTTHUMT00000367199.1	G	NM_144722	rs200747497		35793303	1	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	SNP	0.988	A	A	35793303	G	A	35793303	3	1	45	1	0	0	0	0	1	0	0	0	15042	1145	40	1	4744	1	SPEF2	5	35793303	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		35793303	145121957	16	2653											
ERAP2	64167	genome.wustl.edu	37	chr5	96215697	96215697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaagtcttggtcagcaAtgctacccagtttatcatct	8	10	4	0	rs376750913		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:96215697A>G	ENST00000437043.3	+	2	1019	c.308A>G	c.(307-309)aAt>aGt	p.N103S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.N103S|ERAP2_ENST00000510309.1_Missense_Mutation_p.N103S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	103					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTGGTCAGCAATGCTACCCAG	0.448																																																	0								ENSG00000164308						81	70	74					5																	96215697		2203	4300	6503	ERAP2	SO:0001583	missense	0			-	HGNC	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.308A>G	5.37:g.96215697A>G	ENSP00000400376:p.Asn103Ser	Somatic	0	52	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.N103S	ENST00000437043.3	37	c.308	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	A	10.00	1.233337	0.22626	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04049	4.23;4.23;4.23;3.72;4.23	4.58	2.08	0.27032	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.625736	0.16087	N	0.230222	T	0.03220	0.0094	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.007;0.012	T	0.42344	-0.9457	10	0.42905	T	0.14	.	6.636	0.22883	0.7606:0.155:0.0844:0.0	.	103;103	Q6P179-3;Q6P179	.;ERAP2_HUMAN	S	103	ENSP00000400376:N103S;ENSP00000421175:N103S;ENSP00000421849:N103S;ENSP00000369235:N103S;ENSP00000425758:N103S	ENSP00000369235:N103S	N	+	2	0	ERAP2	96241453	0.153000	0.22777	0.252000	0.24328	0.525000	0.34531	4.217000	0.58547	0.226000	0.20979	-0.472000	0.04984	AAT	-	pfam_Peptidase_M1_N		0.448	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	protein_coding	OTTHUMT00000250623.2	A	NM_022350	-		96215697	1	no_errors	ENST00000437043	ensembl	human	known	74_37	missense	SNP	0.102	G	G	96215697	A	G	96215697	3	3	45	1	0	0	0	0	1	0	0	0	5206	101	4	5	310	5	ERAP2	5	96215697	Missense_Mutation	SNP	A	TCGA-DX-A3M2-01A-21D-A228-09	60422394	96215697	84699563	17	2654											
PCDH1	5097	genome.wustl.edu	37	chr5	141248661	141248661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggatcaccagggagctGgttctggcattcacggagcc	15	11	3	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:141248661G>T	ENST00000394536.3	-	2	515	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	PCDH1_ENST00000503492.1_Missense_Mutation_p.Q126K|PCDH1_ENST00000456271.1_Missense_Mutation_p.Q126K|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000536585.1_Missense_Mutation_p.Q104K|PCDH1_ENST00000287008.3_Missense_Mutation_p.Q126K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	126	Cadherin 1. {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)		CCAGGGAGCTGGTTCTGGCAT	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)												0								ENSG00000156453						112	107	109					5																	141248661		2203	4300	6503	PCDH1	SO:0001583	missense	0			-	HGNC	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.376C>A	5.37:g.141248661G>T	ENSP00000378043:p.Gln126Lys	Somatic	0	39	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q8IUP2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q126K	ENST00000394536.3	37	c.376	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972506	0.53614	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585;ENST00000514773	T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74	4.21	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (2);	0.143969	0.32314	N	0.006261	T	0.17619	0.0423	N	0.08118	0	0.32673	N	0.516591	B;B	0.28801	0.223;0.11	B;B	0.36885	0.235;0.151	T	0.24657	-1.0154	10	0.46703	T	0.11	.	14.4287	0.67233	0.0:0.0:1.0:0.0	.	126;126	Q08174;Q08174-2	PCDH1_HUMAN;.	K	126;126;126;126;137;104;104	ENSP00000424667:Q126K;ENSP00000287008:Q126K;ENSP00000378043:Q126K;ENSP00000403497:Q126K;ENSP00000350122:Q137K;ENSP00000438825:Q104K;ENSP00000424163:Q104K	ENSP00000287008:Q126K	Q	-	1	0	PCDH1	141228845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.132000	0.57977	2.339000	0.79563	0.555000	0.69702	CAG	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	protein_coding	OTTHUMT00000251862.1	G	NM_032420	-		141248661	-1	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141248661	G	T	141248661	3	4	45	1	0	0	0	0	1	0	0	0	11508	1357	47	3	3437	3	PCDH1	5	141248661	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	45032964	141248661	39666599	18	2655											
GPR151	134391	genome.wustl.edu	37	chr5	145894881	145894881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacagccaagctacccattCggggagccacaagagagcag	11	14	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:145894881C>T	ENST00000311104.2	-	1	872	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTACCCATTCGGGGAGCCAC	0.507																																					Pancreas(78;420 1386 18535 37114 49710)												0								ENSG00000173250						53	56	55					5																	145894881		2203	4300	6503	GPR151	SO:0001583	missense	0			-	HGNC	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.796G>A	5.37:g.145894881C>T	ENSP00000308733:p.Glu266Lys	Somatic	0	30	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	Q86SN8|Q8NGV2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E266K	ENST00000311104.2	37	c.796	CCDS34266.1	5	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611492	0.46631	.	.	ENSG00000173250	ENST00000311104	T	0.71698	-0.59	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.113216	0.64402	D	0.000016	T	0.78502	0.4293	M	0.62723	1.935	0.36830	D	0.886822	D	0.76494	0.999	P	0.59424	0.857	T	0.80365	-0.1413	10	0.39692	T	0.17	.	13.0873	0.59149	0.0:0.9232:0.0:0.0768	.	266	Q8TDV0	GP151_HUMAN	K	266	ENSP00000308733:E266K	ENSP00000308733:E266K	E	-	1	0	GPR151	145875074	1.000000	0.71417	0.101000	0.21167	0.018000	0.09664	4.172000	0.58243	2.808000	0.96608	0.655000	0.94253	GAA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	protein_coding	OTTHUMT00000373457.1	C	NM_194251	-		145894881	-1	no_errors	ENST00000311104	ensembl	human	known	74_37	missense	SNP	0.894	T	T	145894881	C	T	145894881	3	4	45	1	0	0	0	0	1	0	0	0	6659	893	31	1	467	1	GPR151	5	145894881	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	4646220	145894881	35020379	19	2656											
SPINK5	11005	genome.wustl.edu	37	chr5	147499644	147499644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagaaagtgaccctgtcCggggtccagatggcaagaca	13	11	0	4			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:147499644C>T	ENST00000256084.7	+	25	2428	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	SPINK5_ENST00000398454.1_Missense_Mutation_p.R796W|SPINK5_ENST00000359874.3_Missense_Mutation_p.R796W	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	796	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGTCCGGGGTCCAGA	0.388																																																	0								ENSG00000133710						88	78	81					5																	147499644		1850	4100	5950	SPINK5	SO:0001583	missense	0			-	HGNC	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2386C>T	5.37:g.147499644C>T	ENSP00000256084:p.Arg796Trp	Somatic	0	35	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP							pfam_Kazal_dom,smart_Kazal_dom	p.R796W	ENST00000256084.7	37	c.2386	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889670	0.72524	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.56	4.67	0.58626	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.155191	0.30473	N	0.009556	T	0.20455	0.0492	M	0.77616	2.38	0.30017	N	0.814676	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.03483	-1.1032	10	0.62326	D	0.03	-6.0089	12.0016	0.53235	0.1729:0.8271:0.0:0.0	.	777;796;796;796	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	W	796;796;777;796	ENSP00000381472:R796W;ENSP00000352936:R796W;ENSP00000421519:R777W;ENSP00000256084:R796W	ENSP00000256084:R796W	R	+	1	2	SPINK5	147479837	0.002000	0.14202	0.943000	0.38184	0.986000	0.74619	0.698000	0.25571	1.455000	0.47813	0.557000	0.71058	CGG	-	pfam_Kazal_dom,smart_Kazal_dom		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	protein_coding	OTTHUMT00000259215.2	C	NM_001127698	-		147499644	1	no_errors	ENST00000359874	ensembl	human	known	74_37	missense	SNP	0.959	T	T	147499644	C	T	147499644	3	4	45	1	0	0	0	0	1	0	0	0	15069	643	23	1	2484	1	SPINK5	5	147499644	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	1604763	147499644	33415616	20	2657											
FLT4	2324	genome.wustl.edu	37	chr5	180040031	180040031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgggagtggccagctcCggggccctcatccttgtgcc	15	14	1	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:180040031C>T	ENST00000261937.6	-	25	3489	c.3411G>A	c.(3409-3411)ccG>ccA	p.P1137P	FLT4_ENST00000393347.3_Silent_p.P1137P|FLT4_ENST00000502649.1_Silent_p.P1137P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> S (in HCI). {ECO:0000269|PubMed:11807987}.		blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|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)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCCAGCTCCGGGGCCCTCA	0.652																																					Colon(97;1075 1466 27033 27547 35871)												0								ENSG00000037280						52	62	59					5																	180040031		2203	4299	6502	FLT4	SO:0001819	synonymous_variant	0			-	HGNC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3411G>A	5.37:g.180040031C>T		Somatic	0	110	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	102	15.70	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.P1137	ENST00000261937.6	37	c.3411	CCDS4457.1	5																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	C		-		180040031	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	silent	SNP	0.950	T	T	180040031	C	T	180040031	2	4	45	1	0	0	0	0	0	0	0	1	5946	639	23	1		1	FLT4	5	180040031	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	32540387	180040031	875229	21	2658											
ELOVL2	54898	genome.wustl.edu	37	chr6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtttttttccgcaaaaCgaagaaaattgtgtccagga	8	8	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:10995345C>T	ENST00000354666.3	-	5	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	134					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393																																																	0								ENSG00000197977						119	114	115					6																	10995345		2203	4300	6503	ELOVL2	SO:0001583	missense	0			-	HGNC	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.400G>A	6.37:g.10995345C>T	ENSP00000346693:p.Val134Ile	Somatic	0	32	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	Q6P9E1|Q86W94	Missense_Mutation	SNP							pfam_GNS1_SUR4	p.V134I	ENST00000354666.3	37	c.400	CCDS4518.1	6	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818763	0.16607	.	.	ENSG00000197977	ENST00000354666	T	0.27402	1.67	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.07324	0.0185	N	0.04994	-0.135	0.53005	D	0.999967	B	0.33777	0.425	B	0.32583	0.148	T	0.11542	-1.0583	10	0.06099	T	0.92	-1.6025	19.9598	0.97242	0.0:1.0:0.0:0.0	.	134	Q9NXB9	ELOV2_HUMAN	I	134	ENSP00000346693:V134I	ENSP00000346693:V134I	V	-	1	0	ELOVL2	11103331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.648000	0.61425	2.716000	0.92895	0.655000	0.94253	GTT	-	pfam_GNS1_SUR4		0.393	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	protein_coding	OTTHUMT00000039849.1	C		-		10995345	-1	no_errors	ENST00000354666	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10995345	C	T	10995345	3	4	45	1	0	0	0	0	1	0	0	0	5076	536	19	1	506	1	ELOVL2	6	10995345	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		10995345	160119722	22	2659											
ABT1	29777	genome.wustl.edu	37	chr6	26598573	26598573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggcagcgcttgagagcGgaggttgctcaagccaagcg	16	11	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:26598573G>A	ENST00000274849.1	+	3	550	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	173					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCTTGAGAGCGGAGGTTGCTC	0.592																																																	0								ENSG00000146109						83	82	83					6																	26598573		2203	4300	6503	ABT1	SO:0001819	synonymous_variant	0			-	HGNC	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.519G>A	6.37:g.26598573G>A		Somatic	0	107	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	86	21.10		Silent	SNP							NULL	p.A173	ENST00000274849.1	37	c.519	CCDS4616.1	6																																																																																			-	NULL		0.592	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABT1	protein_coding	OTTHUMT00000043698.1	G		-		26598573	1	no_errors	ENST00000274849	ensembl	human	known	74_37	silent	SNP	0.188	A	A	26598573	G	A	26598573	2	1	45	1	0	0	0	0	0	0	0	1	101	1103	39	1		1	ABT1	6	26598573	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	15603228	26598573	144516494	23	2660											
NOTCH4	4855	genome.wustl.edu	37	chr6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacccccatacctgtgcGtccaggtgggcagaggcagg	13	14	1	1	rs370312303		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:32188188G>A	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592																																																	0								ENSG00000204301	G	CYS/ARG	0,3022		0,0,1511	133	142	139		1153	4.4	1	6		139	1,5417		0,1,2708	no	missense	NOTCH4	NM_004557.3	180	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	probably-damaging	385/2004	32188188	1,8439	1511	2709	4220	NOTCH4	SO:0001583	missense	0			-	HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1153C>T	6.37:g.32188188G>A	ENSP00000364163:p.Arg385Cys	Somatic	0	99	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	80	21.57	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R385C	ENST00000375023.3	37	c.1153	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493945	0.64186	0.0	1.85E-4	ENSG00000204301	ENST00000375023	D	0.91740	-2.9	4.36	4.36	0.52297	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.193071	0.25875	N	0.027725	D	0.94262	0.8157	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;B	0.63488	0.915;0.254	D	0.94793	0.7964	10	0.72032	D	0.01	.	14.4145	0.67139	0.0:0.0:1.0:0.0	.	385;385	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	385	ENSP00000364163:R385C	ENSP00000364163:R385C	R	-	1	0	NOTCH4	32296166	0.997000	0.39634	1.000000	0.80357	0.905000	0.53344	2.450000	0.44943	2.241000	0.73720	0.313000	0.20887	CGC	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	G		-		32188188	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32188188	G	A	32188188	3	1	45	1	0	0	0	0	1	0	0	0	10553	1145	40	1	4958	1	NOTCH4	6	32188188	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	5589615	32188188	138926879	24	2661											
ARHGAP18	93663	genome.wustl.edu	37	chr6	129905211	129905211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtattgccatggaaactttcGaaagatggggagcttgcact	12	7	0	1	rs137871841	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:129905211G>A	ENST00000368149.2	-	13	1848	c.1760C>T	c.(1759-1761)tCg>tTg	p.S587L	ARHGAP18_ENST00000463225.1_5'UTR	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)		GGAAACTTTCGAAAGATGGGG	0.468													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		19210	0		0	False		,,,				2504	0																0								ENSG00000146376	G	LEU/SER	5,4401	9.9+/-24.2	0,5,2198	150	132	138		1760	5.7	1	6	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ARHGAP18	NM_033515.2	145	0,8,6495	AA,AG,GG		0.0349,0.1135,0.0615	benign	587/664	129905211	8,12998	2203	4300	6503	ARHGAP18	SO:0001583	missense	0			-	HGNC	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.1760C>T	6.37:g.129905211G>A	ENSP00000357131:p.Ser587Leu	Somatic	0	50	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43		Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S587L	ENST00000368149.2	37	c.1760	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882300	0.51908	0.001135	3.49E-4	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.73	5.73	0.89815	.	0.385355	0.29995	N	0.010669	T	0.42630	0.1211	L	0.48642	1.525	0.42793	D	0.993902	B	0.32781	0.384	B	0.23150	0.044	T	0.39272	-0.9622	8	.	.	.	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	587	Q8N392	RHG18_HUMAN	L	542;587	.	.	S	-	2	0	ARHGAP18	129946904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.712000	0.92718	0.557000	0.71058	TCG	-	NULL		0.468	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	protein_coding	OTTHUMT00000042185.2	G	NM_033515	rs137871841		129905211	-1	no_errors	ENST00000368149	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129905211	G	A	129905211	3	1	45	1	0	0	0	0	1	0	0	0	868	1059	37	1	243	1	ARHGAP18	6	129905211	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	97717023	129905211	41209856	25	2662											
PIWIL2	55124	genome.wustl.edu	37	chr8	22172555	22172555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attataggttgtcaatgttcGaaccattggtcagcccacca	8	10	2	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:22172555G>A	ENST00000454009.2	+	18	2614	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R702Q|PIWIL2_ENST00000356766.6_Missense_Mutation_p.R702Q	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	702	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTCAATGTTCGAACCATTGGT	0.438																																																	0								ENSG00000197181						135	130	132					8																	22172555		2203	4300	6503	PIWIL2	SO:0001583	missense	0			-	HGNC	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2105G>A	8.37:g.22172555G>A	ENSP00000406956:p.Arg702Gln	Somatic	0	86	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	79	9.20	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R702Q	ENST00000454009.2	37	c.2105	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.225029	0.95173	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15256	2.44;2.44;2.44	5.57	5.57	0.84162	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.71581	2.175	0.80722	D	1	D;D	0.61080	0.977;0.989	P;P	0.59643	0.687;0.861	T	0.08806	-1.0704	10	0.59425	D	0.04	-0.002	18.6807	0.91545	0.0:0.0:1.0:0.0	.	702;702	E7ECA4;Q8TC59	.;PIWL2_HUMAN	Q	702	ENSP00000349208:R702Q;ENSP00000428267:R702Q;ENSP00000406956:R702Q	ENSP00000349208:R702Q	R	+	2	0	PIWIL2	22228500	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.839000	0.75364	2.765000	0.95021	0.650000	0.86243	CGA	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.438	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	protein_coding	OTTHUMT00000375438.1	G		-		22172555	1	no_errors	ENST00000356766	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22172555	G	A	22172555	3	1	45	1	0	0	0	0	1	0	0	0	11960	1058	37	1	2171	1	PIWIL2	8	22172555	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		22172555	124191467	26	2663											
RP1	6101	genome.wustl.edu	37	chr8	55534123	55534123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgtggtcaagctgtaCgctacggacggaaggagggt	16	10	1	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:55534123C>T	ENST00000220676.1	+	2	745	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	199	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)			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)			TCAAGCTGTACGCTACGGACG	0.577																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						114	118	117					8																	55534123		2203	4300	6503	RP1	SO:0001819	synonymous_variant	0			-	HGNC	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.597C>T	8.37:g.55534123C>T		Somatic	0	44	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64		Silent	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Y199	ENST00000220676.1	37	c.597	CCDS6160.1	8																																																																																			-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.577	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	C	NM_006269	-		55534123	1	no_errors	ENST00000220676	ensembl	human	known	74_37	silent	SNP	0.762	T	T	55534123	C	T	55534123	2	4	45	1	0	0	0	0	0	0	0	1	13540	547	19	1		1	RP1	8	55534123	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	33361568	55534123	90829899	27	2664											
FAM135B	51059	genome.wustl.edu	37	chr8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgctgttcactgtccGtaaagtgcagatccaccttg	8	13	2	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	118										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCACTGTCCGTAAAGTGCAG	0.458										HNSCC(54;0.14)																																							0								ENSG00000147724						106	102	103					8																	139268947		1973	4164	6137	FAM135B	SO:0001583	missense	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.353C>T	8.37:g.139268947G>A	ENSP00000378710:p.Thr118Met	Somatic	0	32	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP							pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.T118M	ENST00000395297.1	37	c.353	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569217	0.86439	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15834	2.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31613	-0.9937	10	0.46703	T	0.11	-10.4338	18.4074	0.90541	0.0:0.0:1.0:0.0	.	118	Q49AJ0	F135B_HUMAN	M	118	ENSP00000378710:T118M	ENSP00000160713:T118M	T	-	2	0	FAM135B	139338129	1.000000	0.71417	0.580000	0.28601	0.904000	0.53231	9.597000	0.98273	2.663000	0.90544	0.655000	0.94253	ACG	-	pfam_DUF3657		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	G	NM_015912	-		139268947	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139268947	G	A	139268947	3	1	45	1	0	0	0	0	1	0	0	0	5451	1145	40	1	3931	1	FAM135B	8	139268947	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	83734824	139268947	7095075	28	2665											
TMEFF1	8577	genome.wustl.edu	37	chr9	103261070	103261070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtgagggagtctgacGtaagagtttgtgatgagtca	14	3	2	5			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr9:103261070G>A	ENST00000374879.4	+	2	652	c.220G>A	c.(220-222)Gta>Ata	p.V74I	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R37H|TMEFF1_ENST00000334943.6_Missense_Mutation_p.V35I	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	74					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V74I(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GGAGTCTGACGTAAGAGTTTG	0.388																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000241697						145	146	145					9																	103261070		2203	4300	6503	TMEFF1	SO:0001583	missense	0			-	HGNC	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.220G>A	9.37:g.103261070G>A	ENSP00000364013:p.Val74Ile	Somatic	0	37	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	65	8.45	Q13086|Q8N3T8	Missense_Mutation	SNP							pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.V74I	ENST00000374879.4	37	c.220	CCDS6750.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.04|12.04	1.817993|1.817993	0.32145|0.32145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.57595	.|0.41;0.39	5.76|5.76	-0.436|-0.436	0.12275|0.12275	.|Epidermal growth factor-like, type 3 (1);	.|0.449483	.|0.24094	.|N	.|0.041619	T|T	0.28067|0.28067	0.0692|0.0692	N|N	0.22421|0.22421	0.69|0.69	0.26946|0.26946	N|N	0.96614|0.96614	.|B;P	.|0.38745	.|0.002;0.645	.|B;B	.|0.32022	.|0.003;0.139	T|T	0.14504|0.14504	-1.0470|-1.0470	5|10	.|0.36615	.|T	.|0.2	-7.8123|-7.8123	6.0187|6.0187	0.19616|0.19616	0.3641:0.1231:0.5128:0.0|0.3641:0.1231:0.5128:0.0	.|.	.|74;35	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	H|I	37|35;74	.|ENSP00000334447:V35I;ENSP00000364013:V74I	.|ENSP00000334447:V35I	R|V	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102300891|102300891	0.973000|0.973000	0.33851|0.33851	0.514000|0.514000	0.27761|0.27761	0.811000|0.811000	0.45836|0.45836	0.776000|0.776000	0.26704|0.26704	-0.263000|-0.263000	0.09378|0.09378	-0.136000|-0.136000	0.14681|0.14681	CGT|GTA	-	NULL		0.388	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	protein_coding	OTTHUMT00000053418.1	G	NM_003692	-		103261070	1	no_errors	ENST00000374879	ensembl	human	known	74_37	missense	SNP	0.945	A	A	103261070	G	A	103261070	3	1	45	1	0	0	0	0	1	0	0	0	16020	1145	40	1	226	1	TMEFF1	9	103261070	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		103261070	37952361	29	2666											
SOHLH1	402381	genome.wustl.edu	37	chr9	138586907	138586907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcacccggcctcctgCgccagcatggggtcctcctt	11	18	1	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr9:138586907C>T	ENST00000298466.5	-	6	924	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_ENST00000425225.1_Silent_p.A288A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	288					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A288A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000165643						10	10	10					9																	138586907		2135	4214	6349	SOHLH1	SO:0001819	synonymous_variant	0			-	HGNC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.864G>A	9.37:g.138586907C>T		Somatic	0	17	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	18.18	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A288	ENST00000298466.5	37	c.864	CCDS35174.1	9																																																																																			-	NULL		0.697	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	protein_coding	OTTHUMT00000055018.2	C	NM_001012415	-		138586907	-1	no_errors	ENST00000425225	ensembl	human	known	74_37	silent	SNP	0.000	T	T	138586907	C	T	138586907	2	4	45	1	0	0	0	0	0	0	0	1	14931	755	27	1		1	SOHLH1	9	138586907	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	35325837	138586907	2626524	30	2667											
NSUN6	221078	genome.wustl.edu	37	chr10	18874941	18874941	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaacaaaatgccctgaTggaattcagccctaacaata	5	10	2	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:18874941T>A	ENST00000377304.4	-	8	1277	c.859A>T	c.(859-861)Atc>Ttc	p.I287F		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	287							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGCCCTGATGGAATTCAGC	0.343																																																	0								ENSG00000241058						98	93	95					10																	18874941		2203	4300	6503	NSUN6	SO:0001583	missense	0			-	HGNC	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.859A>T	10.37:g.18874941T>A	ENSP00000366519:p.Ile287Phe	Somatic	0	42	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B0YJ54	Missense_Mutation	SNP							pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.I287F	ENST00000377304.4	37	c.859	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430243	0.62844	.	.	ENSG00000241058	ENST00000377304	T	0.25749	1.78	4.16	4.16	0.48862	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.85462	2.755	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.62011	-0.6944	10	0.87932	D	0	.	13.1534	0.59503	0.0:0.0:0.0:1.0	.	287	Q8TEA1	NSUN6_HUMAN	F	287	ENSP00000366519:I287F	ENSP00000366519:I287F	I	-	1	0	NSUN6	18914947	1.000000	0.71417	0.901000	0.35422	0.612000	0.37316	4.332000	0.59279	1.619000	0.50296	0.260000	0.18958	ATC	-	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	protein_coding	OTTHUMT00000047083.1	T	NM_182543	-		18874941	-1	no_errors	ENST00000377304	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18874941	T	A	18874941	3	1	45	1	0	0	0	0	1	0	0	0	10684	1464	51	5	566	5	NSUN6	10	18874941	Missense_Mutation	SNP	T	TCGA-DX-A3M2-01A-21D-A228-09		18874941	116659806	31	2668											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24874948	24874948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtgctttttctttcgGcttcttcctcttgcgactag	9	11	3	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:24874948G>T	ENST00000396432.2	-	26	4756	c.4270C>A	c.(4270-4272)Ccg>Acg	p.P1424T	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1423					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTTCTTTCGGCTTCTTCCTC	0.443																																																	0								ENSG00000107863						80	75	77					10																	24874948		2203	4300	6503	ARHGAP21	SO:0001583	missense	0			-	HGNC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4270C>A	10.37:g.24874948G>T	ENSP00000379709:p.Pro1424Thr	Somatic	0	82	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	74	9.76	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.P1424T	ENST00000396432.2	37	c.4270	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411411	0.25465	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.09350	2.99	4.98	2.77	0.32553	.	0.451013	0.25938	N	0.027323	T	0.06917	0.0176	N	0.12961	0.28	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28396	-1.0045	10	0.25106	T	0.35	.	14.4227	0.67196	0.0:0.0:0.6648:0.3352	.	1423	Q5T5U3	RHG21_HUMAN	T	1424;873	ENSP00000379709:P1424T	ENSP00000379709:P1424T	P	-	1	0	ARHGAP21	24914954	0.998000	0.40836	0.991000	0.47740	0.972000	0.66771	0.653000	0.24902	1.190000	0.43042	0.655000	0.94253	CCG	-	NULL		0.443	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	G	NM_020824	-		24874948	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	SNP	0.795	T	T	24874948	G	T	24874948	3	4	45	1	0	0	0	0	1	0	0	0	871	1203	42	3	1610	3	ARHGAP21	10	24874948	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	6000007	24874948	110659799	32	2669											
TBC1D12	23232	genome.wustl.edu	37	chr10	96282101	96282101	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgattttttaatctttagAtgttgaaatattttgcaaca	5	3	1	3			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:96282101A>T	ENST00000225235.4	+	11	2001	c.1891A>T	c.(1891-1893)Atg>Ttg	p.M631L	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	631	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TAATCTTTAGATGTTGAAATA	0.249																																																	0								ENSG00000108239						8	7	7					10																	96282101		1634	3664	5298	TBC1D12	SO:0001630	splice_region_variant	0			-	HGNC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1891-1A>T	10.37:g.96282101A>T		Somatic	0	29	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M631L	ENST00000225235.4	37	c.1891	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606631	0.46527	.	.	ENSG00000108239	ENST00000225235	T	0.15952	2.38	5.49	5.49	0.81192	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.33668	1.02	0.80722	D	1	D	0.55172	0.97	D	0.64410	0.925	T	0.01136	-1.1440	9	.	.	.	-15.4298	13.5936	0.61975	1.0:0.0:0.0:0.0	.	631	O60347	TBC12_HUMAN	L	631	ENSP00000225235:M631L	.	M	+	1	0	TBC1D12	96272091	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.956000	0.93066	2.304000	0.77564	0.528000	0.53228	ATG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.249	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	protein_coding	OTTHUMT00000049482.2	A		-	Missense_Mutation	96282101	1	no_errors	ENST00000225235	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96282101	A	T	96282101	5	4	45	1	0	0	0	0	0	0	1	0	15608	347	12	5	1933	5	TBC1D12	10	96282101	Splice_Site	SNP	A	TCGA-DX-A3M2-01A-21D-A228-09	71407153	96282101	39252646	33	2670											
KNDC1	85442	genome.wustl.edu	37	chr10	134981792	134981792	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccttcgttccccccgagttCgacgtgaccgggaacacctt	10	16	0	1	rs570488032		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:134981792C>T	ENST00000304613.3	+	3	357	c.336C>T	c.(334-336)ttC>ttT	p.F112F	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368572.2_Silent_p.F112F|KNDC1_ENST00000368571.2_Silent_p.F47F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	112	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCCGAGTTCGACGTGACCG	0.572																																																	0								ENSG00000171798						118	112	114					10																	134981792		2203	4300	6503	KNDC1	SO:0001819	synonymous_variant	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.336C>T	10.37:g.134981792C>T		Somatic	0	103	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	55	31.25	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F112	ENST00000304613.3	37	c.336	CCDS7674.1	10																																																																																			-	superfamily_Kinase-like_dom,smart_KIND		0.572	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	C	NM_152643	-		134981792	1	no_errors	ENST00000368572	ensembl	human	known	74_37	silent	SNP	0.987	T	T	134981792	C	T	134981792	2	4	45	1	0	0	0	0	0	0	0	1	8428	883	31	1		1	KNDC1	10	134981792	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	38699691	134981792	552955	34	2671											
TUB	7275	genome.wustl.edu	37	chr11	8123044	8123044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccccagcggactacatcGtgatgcagtttggccgggta	14	11	0	1	rs527582687		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:8123044G>A	ENST00000299506.2	+	12	1548	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TUB_ENST00000534099.1_Missense_Mutation_p.V473M|TUB_ENST00000305253.4_Missense_Mutation_p.V522M	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	467					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGACTACATCGTGATGCAGTT	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		20752	0		0	False		,,,				2504	0																0								ENSG00000166402						180	147	158					11																	8123044		2201	4296	6497	TUB	SO:0001583	missense	0			-	HGNC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1399G>A	11.37:g.8123044G>A	ENSP00000299506:p.Val467Met	Somatic	0	129	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	108	10.74	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.V522M	ENST00000299506.2	37	c.1564	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313985	0.81358	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97480	-4.4;-4.4;-4.4	5.08	5.08	0.68730	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.994	D	0.99737	1.1014	10	0.87932	D	0	-16.4249	18.8214	0.92099	0.0:0.0:1.0:0.0	.	473;467;522	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	M	473;522;467	ENSP00000434400:V473M;ENSP00000305426:V522M;ENSP00000299506:V467M	ENSP00000299506:V467M	V	+	1	0	TUB	8079620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.519000	0.84933	0.591000	0.81541	GTG	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C		0.547	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	protein_coding	OTTHUMT00000385823.1	G	NM_003320	-		8123044	1	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8123044	G	A	8123044	3	1	45	1	0	0	0	0	1	0	0	0	16749	1145	40	1	1656	1	TUB	11	8123044	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		8123044	126883472	35	2672											
MICAL2	9645	genome.wustl.edu	37	chr11	12231105	12231105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcggagtttgagtttgaCgtcatcattggtgccgatgg	14	7	2	2	rs531668044	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:12231105C>T	ENST00000256194.4	+	6	939	c.651C>T	c.(649-651)gaC>gaT	p.D217D	MICAL2_ENST00000379612.3_Silent_p.D217D|MICAL2_ENST00000527546.1_Silent_p.D217D|MICAL2_ENST00000342902.5_Silent_p.D217D|MICAL2_ENST00000537344.1_Silent_p.D217D	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	217	Monooxygenase domain. {ECO:0000250}.				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)		TTGAGTTTGACGTCATCATTG	0.522													C|||	3	0.000599042	0	0	5008	,	,		20030	0		0	False		,,,				2504	0.0031																0								ENSG00000133816						159	147	151					11																	12231105		2201	4294	6495	MICAL2	SO:0001819	synonymous_variant	0			-	HGNC	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.651C>T	11.37:g.12231105C>T		Somatic	0	48	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP							pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D217	ENST00000256194.4	37	c.651	CCDS7809.1	11																																																																																			-	prints_Rng_hydrolase-like		0.522	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	protein_coding	OTTHUMT00000385993.1	C	NM_014632	-		12231105	1	no_errors	ENST00000256194	ensembl	human	known	74_37	silent	SNP	0.995	T	T	12231105	C	T	12231105	2	4	45	1	0	0	0	0	0	0	0	1	9572	535	19	1		1	MICAL2	11	12231105	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	4108061	12231105	122775411	36	2673											
OR8H2	390151	genome.wustl.edu	37	chr11	55872648	55872648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattactatgctggggaatGtggggatgatattgataatc	12	3	0	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:55872648G>A	ENST00000313503.1	+	1	130	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	44						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)					GCTGGGGAATGTGGGGATGAT	0.428										HNSCC(53;0.14)																																							0								ENSG00000181767						297	267	277					11																	55872648		2201	4296	6497	OR8H2	SO:0001583	missense	0			-	HGNC	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.130G>A	11.37:g.55872648G>A	ENSP00000323982:p.Val44Met	Somatic	0	93	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	89	15.89	Q6IFC1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V44M	ENST00000313503.1	37	c.130	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	2.077	-0.411711	0.04799	.	.	ENSG00000181767	ENST00000313503	T	0.00441	7.41	3.58	-3.07	0.05363	GPCR, rhodopsin-like superfamily (1);	1.376260	0.04571	N	0.393378	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41413	-0.9510	10	0.62326	D	0.03	.	2.3718	0.04332	0.1587:0.3365:0.3146:0.1902	.	44	Q8N162	OR8H2_HUMAN	M	44	ENSP00000323982:V44M	ENSP00000323982:V44M	V	+	1	0	OR8H2	55629224	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-1.897000	0.01603	-0.339000	0.08401	-1.138000	0.01928	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	protein_coding	OTTHUMT00000391540.1	G	NM_001005200	-		55872648	1	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	SNP	0.003	A	A	55872648	G	A	55872648	3	1	45	1	0	0	0	0	1	0	0	0	11240	1377	48	2	132	2	OR8H2	11	55872648	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	43641543	55872648	79133868	37	2674											
OR8H1	219469	genome.wustl.edu	37	chr11	56057792	56057792	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatcatagttccataaaaGatggtgactcccaagagatg	8	7	1	3			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:56057792G>T	ENST00000313022.2	-	1	774	c.747C>A	c.(745-747)atC>atA	p.I249I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	249						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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCCATAAAAGATGGTGACTC	0.368																																																	0								ENSG00000181693						93	91	92					11																	56057792		2201	4296	6497	OR8H1	SO:0001819	synonymous_variant	0			-	HGNC	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.747C>A	11.37:g.56057792G>T		Somatic	0	42	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	48	21.31	B2RNI7|Q6IFC5	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I249	ENST00000313022.2	37	c.747	CCDS31526.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.368	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	protein_coding	OTTHUMT00000370019.1	G	NM_001005199	-		56057792	-1	no_errors	ENST00000313022	ensembl	human	known	74_37	silent	SNP	0.089	T	T	56057792	G	T	56057792	2	4	45	1	0	0	0	0	0	0	0	1	11239	932	33	3		3	OR8H1	11	56057792	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	185144	56057792	78948724	38	2675											
TAF6L	10629	genome.wustl.edu	37	chr11	62553797	62553797	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacttgcaggctgtgctggaTgattattcagtatctaatgc	10	7	2	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:62553797T>A	ENST00000294168.3	+	10	1227	c.1026T>A	c.(1024-1026)gaT>gaA	p.D342E	TMEM179B_ENST00000533861.1_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000333449.4_5'Flank|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	342					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTGGATGATTATTCAG	0.502											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162227						181	170	174					11																	62553797		2201	4299	6500	TAF6L	SO:0001583	missense	0			-	HGNC	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1026T>A	11.37:g.62553797T>A	ENSP00000294168:p.Asp342Glu	Somatic	0	42	0	1062	0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	B2RAT0|Q96HA6	Missense_Mutation	SNP							pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.D342E	ENST00000294168.3	37	c.1026	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	T	16.20	3.057236	0.55325	.	.	ENSG00000162227	ENST00000294168	T	0.63913	-0.07	5.72	-3.08	0.05347	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	N	0.17082	0.46	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55321	-0.8159	10	0.21014	T	0.42	-11.9253	13.4101	0.60938	0.0:0.6326:0.0:0.3674	.	342	Q9Y6J9	TAF6L_HUMAN	E	342	ENSP00000294168:D342E	ENSP00000294168:D342E	D	+	3	2	TAF6L	62310373	0.022000	0.18835	0.973000	0.42090	0.997000	0.91878	-0.976000	0.03786	-0.353000	0.08224	0.524000	0.50904	GAT	-	NULL		0.502	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	protein_coding	OTTHUMT00000395352.1	T	NM_006473	-		62553797	1	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	SNP	0.957	A	A	62553797	T	A	62553797	3	1	45	1	0	0	0	0	1	0	0	0	15538	1461	51	5	1060	5	TAF6L	11	62553797	Missense_Mutation	SNP	T	TCGA-DX-A3M2-01A-21D-A228-09	6496005	62553797	72452719	39	2676											
TECTA	7007	genome.wustl.edu	37	chr11	120989346	120989346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaccgcagaggttcagcCgtctcctgggtgaaggagct	14	11	2	2	rs560630226		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:120989346C>T	ENST00000392793.1	+	7	1393	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	TECTA_ENST00000264037.2_Silent_p.A374A			O75443	TECTA_HUMAN	tectorin alpha	374	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGTTCAGCCGTCTCCTGGG	0.537													C|||	1	0.000199681	0	0.0014	5008	,	,		19390	0		0	False		,,,				2504	0																0								ENSG00000109927						89	89	89					11																	120989346		2203	4299	6502	TECTA	SO:0001819	synonymous_variant	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1122C>T	11.37:g.120989346C>T		Somatic	0	58	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04		Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A374	ENST00000392793.1	37	c.1122	CCDS8434.1	11																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.537	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422	-		120989346	1	no_errors	ENST00000264037	ensembl	human	known	74_37	silent	SNP	0.012	T	T	120989346	C	T	120989346	2	4	45	1	0	0	0	0	0	0	0	1	15754	639	23	1		1	TECTA	11	120989346	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	58435549	120989346	14017170	40	2677											
TAPBPL	55080	genome.wustl.edu	37	chr12	6567949	6567949	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggatccccagcccaagtctCtggtgcctccttctccagcc	8	18	2	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:6567949C>G	ENST00000266556.7	+	5	1208	c.1043C>G	c.(1042-1044)tCt>tGt	p.S348C	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	348	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GCCCAAGTCTCTGGTGCCTCC	0.612																																																	0								ENSG00000139192						102	91	95					12																	6567949		2203	4300	6503	TAPBPL	SO:0001583	missense	0			-	HGNC	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1043C>G	12.37:g.6567949C>G	ENSP00000266556:p.Ser348Cys	Somatic	0	103	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	107	15.08	Q9NWB8	Missense_Mutation	SNP							pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S348C	ENST00000266556.7	37	c.1043	CCDS8546.1	12	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231418	0.58777	.	.	ENSG00000139192	ENST00000266556	T	0.03124	4.04	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.663946	0.16299	N	0.220535	T	0.22936	0.0554	M	0.92026	3.265	0.09310	N	0.999992	D	0.71674	0.998	D	0.65323	0.934	T	0.09930	-1.0652	10	0.72032	D	0.01	-6.9973	14.6634	0.68891	0.0:1.0:0.0:0.0	.	348	Q9BX59	TPSNR_HUMAN	C	348	ENSP00000266556:S348C	ENSP00000266556:S348C	S	+	2	0	TAPBPL	6438210	0.943000	0.32029	0.286000	0.24833	0.897000	0.52465	5.094000	0.64523	2.603000	0.88011	0.650000	0.86243	TCT	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.612	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	protein_coding	OTTHUMT00000399263.1	C	NM_018009	-		6567949	1	no_errors	ENST00000266556	ensembl	human	known	74_37	missense	SNP	0.194	G	G	6567949	C	G	6567949	3	3	45	1	0	0	0	0	1	0	0	0	15560	913	32	4	1061	4	TAPBPL	12	6567949	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		6567949	127283946	41	2678											
C12orf59	120939	genome.wustl.edu	37	chr12	10339077	10339077	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacgtccctgtgcttcCgctgctgctgtctgagccgc	12	16	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:10339077C>G	ENST00000381923.2	+	5	600	c.196C>G	c.(196-198)Cgc>Ggc	p.R66G	TMEM52B_ENST00000298530.3_Missense_Mutation_p.R46G|TMEM52B_ENST00000536952.1_Missense_Mutation_p.R66G			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	66						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCTGTGCTTCCGCTGCTGCTG	0.607																																																	0								ENSG00000165685						97	83	87					12																	10339077		2203	4300	6503	TMEM52B	SO:0001583	missense	0			-	HGNC	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.196C>G	12.37:g.10339077C>G	ENSP00000371348:p.Arg66Gly	Somatic	0	44	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	Q96NA7	Missense_Mutation	SNP							NULL	p.R66G	ENST00000381923.2	37	c.196		12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408433	0.83340	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000543484;ENST00000536952	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.65739	0.2720	M	0.73962	2.25	0.48632	D	0.999689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67604	-0.5628	10	0.72032	D	0.01	-27.8434	16.8413	0.85970	0.0:1.0:0.0:0.0	.	66;46	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	G	66;46;66;66	ENSP00000371348:R66G;ENSP00000298530:R46G;ENSP00000445582:R66G;ENSP00000446102:R66G	ENSP00000298530:R46G	R	+	1	0	C12orf59	10230344	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.230000	0.51286	2.835000	0.97688	0.650000	0.86243	CGC	-	NULL		0.607	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	protein_coding	OTTHUMT00000399645.1	C	NM_153022	-		10339077	1	no_errors	ENST00000381923	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10339077	C	G	10339077	3	3	45	1	0	0	0	0	1	0	0	0	1704	652	23	4	146	4	C12orf59	12	10339077	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	3771128	10339077	123512818	42	2679											
AQP6	363	genome.wustl.edu	37	chr12	50367325	50367325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttatggggtcatgccGggagacatccgagagaccct	13	11	1	2	rs150838227		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:50367325G>A	ENST00000315520.5	+	1	706	c.369G>A	c.(367-369)ccG>ccA	p.P123P	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	123					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGGTCATGCCGGGAGACATCC	0.652																																																	0								ENSG00000086159						19	15	17					12																	50367325		2202	4296	6498	AQP6	SO:0001819	synonymous_variant	0			-	HGNC	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"Ion channels / Aquaporins"	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.369G>A	12.37:g.50367325G>A		Somatic	0	167	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	97	30.22		Silent	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP	p.P123	ENST00000315520.5	37	c.369	CCDS31798.1	12																																																																																			-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_6,tigrfam_MIP		0.652	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP6	protein_coding	OTTHUMT00000257528.2	G	NM_001652, NM_053286	rs150838227		50367325	1	no_errors	ENST00000315520	ensembl	human	known	74_37	silent	SNP	0.001	A	A	50367325	G	A	50367325	2	1	45	1	0	0	0	0	0	0	0	1	830	1103	39	1		1	AQP6	12	50367325	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	40028248	50367325	83484570	43	2680											
KRT6C	286887	genome.wustl.edu	37	chr12	52867478	52867478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggcactgaaaccccggCggctgctgctgtggctcctg	14	13	0	1	rs142765056		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:52867478C>T	ENST00000252250.6	-	1	91	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	15	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAAACCCCGGCGGCTGCTGCT	0.667													c|||	1	0.000199681	0	0	5008	,	,		14919	0		0	False		,,,				2504	0.001																0								ENSG00000170465	C	HIS/ARG	0,4246		0,0,2123	13	16	15		44	-1.9	0	12	dbSNP_134	15	1,8391		0,1,4195	no	missense	KRT6C	NM_173086.4	29	0,1,6318	TT,TC,CC		0.0119,0.0,0.0079	benign	15/565	52867478	1,12637	2123	4196	6319	KRT6C	SO:0001583	missense	0			-	HGNC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.44G>A	12.37:g.52867478C>T	ENSP00000252250:p.Arg15His	Somatic	0	100	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	72	30.10	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R15H	ENST00000252250.6	37	c.44	CCDS8829.1	12	.	.	.	.	.	.	.	.	.	.	c	12.20	1.865433	0.32977	0.0	1.19E-4	ENSG00000170465	ENST00000252250	T	0.10860	2.83	3.02	-1.85	0.07784	.	0.658638	0.14757	N	0.300258	T	0.08447	0.0210	L	0.42581	1.335	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32025	-0.9922	10	0.28530	T	0.3	.	9.3628	0.38206	0.0:0.5189:0.0:0.4811	.	15	P48668	K2C6C_HUMAN	H	15	ENSP00000252250:R15H	ENSP00000252250:R15H	R	-	2	0	KRT6C	51153745	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-1.676000	0.01946	-0.462000	0.06984	-0.351000	0.07748	CGC	-	NULL		0.667	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	protein_coding	OTTHUMT00000404976.1	C	NM_173086	rs142765056		52867478	-1	no_errors	ENST00000252250	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52867478	C	T	52867478	3	4	45	1	0	0	0	0	1	0	0	0	8484	768	27	1	1686	1	KRT6C	12	52867478	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	2500153	52867478	80984417	44	2681											
SLC39A5	283375	genome.wustl.edu	37	chr12	56625110	56625110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcttctgtgtgtgggtcGtcttgggctgggtagggggc	20	8	2	0	rs555836955		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:56625110G>A	ENST00000266980.4	+	2	345	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.V18I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	18					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						TGTGTGGGTCGTCTTGGGCTG	0.612													G|||	1	0.000199681	0	0	5008	,	,		16486	0.001		0	False		,,,				2504	0																0								ENSG00000139540						88	85	86					12																	56625110		2203	4297	6500	SLC39A5	SO:0001583	missense	0			-	HGNC		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.52G>A	12.37:g.56625110G>A	ENSP00000266980:p.Val18Ile	Somatic	0	63	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	64	9.86	B2R808|Q8N6Y3	Missense_Mutation	SNP							pfam_ZIP	p.V18I	ENST00000266980.4	37	c.52	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968639	0.02232	.	.	ENSG00000139540	ENST00000424625;ENST00000419753;ENST00000454355;ENST00000417965;ENST00000266980;ENST00000437277	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.67	-0.622	0.11560	.	1.574790	0.03799	N	0.264111	T	0.10252	0.0251	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24977	-1.0145	10	0.21540	T	0.41	-9.5829	6.9229	0.24399	0.3787:0.1158:0.5055:0.0	.	18	Q6ZMH5	S39A5_HUMAN	I	18	ENSP00000404155:V18I;ENSP00000402891:V18I;ENSP00000405360:V18I;ENSP00000414868:V18I;ENSP00000266980:V18I;ENSP00000407399:V18I	ENSP00000266980:V18I	V	+	1	0	SLC39A5	54911377	0.952000	0.32445	0.076000	0.20297	0.115000	0.19883	0.304000	0.19228	-0.679000	0.05217	-1.134000	0.01955	GTC	-	NULL		0.612	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	protein_coding	OTTHUMT00000346834.1	G	NM_173596	-		56625110	1	no_errors	ENST00000266980	ensembl	human	known	74_37	missense	SNP	0.011	A	A	56625110	G	A	56625110	3	1	45	1	0	0	0	0	1	0	0	0	14629	1145	40	1	54	1	SLC39A5	12	56625110	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	3757632	56625110	77226785	45	2682											
EPYC	1833	genome.wustl.edu	37	chr12	91363850	91363850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctcgtagattttctgGgagtggcagagggatgtggt	18	4	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:91363850G>A	ENST00000261172.3	-	6	861	c.769C>T	c.(769-771)Cca>Tca	p.P257S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	257					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGATTTTCTGGGAGTGGCAGA	0.468																																																	0								ENSG00000083782						217	220	219					12																	91363850		2203	4300	6503	EPYC	SO:0001583	missense	0			-	HGNC	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.769C>T	12.37:g.91363850G>A	ENSP00000261172:p.Pro257Ser	Somatic	0	91	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	102	15.00	A8K3M7|Q8NEJ5	Missense_Mutation	SNP							pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P257S	ENST00000261172.3	37	c.769	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623256	0.66901	.	.	ENSG00000083782	ENST00000261172	T	0.02395	4.31	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00351	-1.1796	10	0.72032	D	0.01	.	19.0153	0.92892	0.0:0.0:1.0:0.0	.	257	Q99645	EPYC_HUMAN	S	257	ENSP00000261172:P257S	ENSP00000261172:P257S	P	-	1	0	EPYC	89887981	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	9.281000	0.95811	2.491000	0.84063	0.467000	0.42956	CCA	-	smart_Leu-rich_rpt_typical-subtyp		0.468	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	protein_coding	OTTHUMT00000407146.2	G	NM_004950	-		91363850	-1	no_errors	ENST00000261172	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91363850	G	A	91363850	3	1	45	1	0	0	0	0	1	0	0	0	5203	1232	43	2	207	2	EPYC	12	91363850	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	34738740	91363850	42488045	46	2683											
ACACB	32	genome.wustl.edu	37	chr12	109698439	109698439	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaacccgctgtgcatagaAatgtatgcagacaaagagag	10	8	1	3			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:109698439A>T	ENST00000338432.7	+	48	6770	c.6651A>T	c.(6649-6651)gaA>gaT	p.E2217D	ACACB_ENST00000377848.3_Missense_Mutation_p.E2217D|ACACB_ENST00000377854.5_Missense_Mutation_p.E2147D|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2217	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGTGCATAGAAATGTATGCAG	0.537																																																	0								ENSG00000076555						130	131	131					12																	109698439		2203	4300	6503	ACACB	SO:0001583	missense	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6651A>T	12.37:g.109698439A>T	ENSP00000341044:p.Glu2217Asp	Somatic	0	92	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	81	10.99	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP							pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E2217D	ENST00000338432.7	37	c.6651	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095376	0.76870	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.33865	1.39;1.39;1.39	5.09	-9.61	0.00550	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83082	-0.0137	10	0.87932	D	0	.	23.2191	0.99981	0.2192:0.0:0.7808:0.0	.	2217	O00763	ACACB_HUMAN	D	2217;2217;2147;1448	ENSP00000341044:E2217D;ENSP00000367079:E2217D;ENSP00000367085:E2147D	ENSP00000341044:E2217D	E	+	3	2	ACACB	108182822	0.999000	0.42202	0.438000	0.26821	0.638000	0.38207	0.516000	0.22817	-2.015000	0.00947	-0.912000	0.02778	GAA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C		0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	A	NM_001093	-		109698439	1	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	SNP	0.921	T	T	109698439	A	T	109698439	3	4	45	1	0	0	0	0	1	0	0	0	107	11	1	5	6837	5	ACACB	12	109698439	Missense_Mutation	SNP	A	TCGA-DX-A3M2-01A-21D-A228-09	18334589	109698439	24153456	47	2684											
CCDC63	160762	genome.wustl.edu	37	chr12	111322003	111322003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggttcacgtatgtcacGgagctcaacaacgacatgga	11	11	3	0	rs549200490	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:111322003G>A	ENST00000308208.5	+	8	1265	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_ENST00000545036.1_Silent_p.T301T|CCDC63_ENST00000552694.1_Silent_p.T262T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552													G|||	2	0.000399361	0	0	5008	,	,		20757	0.002		0	False		,,,				2504	0																0								ENSG00000173093						114	105	108					12																	111322003		2203	4300	6503	CCDC63	SO:0001819	synonymous_variant	0			-	HGNC	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1023G>A	12.37:g.111322003G>A		Somatic	0	62	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DY03|Q0P603|Q6P2E1	Silent	SNP							NULL	p.T341	ENST00000308208.5	37	c.1023	CCDS9151.1	12																																																																																			-	NULL		0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	protein_coding	OTTHUMT00000404673.2	G	NM_152591	-		111322003	1	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	SNP	0.777	A	A	111322003	G	A	111322003	2	1	45	1	0	0	0	0	0	0	0	1	2836	1103	39	1		1	CCDC63	12	111322003	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	1623564	111322003	22529892	48	2685											
CIT	11113	genome.wustl.edu	37	chr12	120172048	120172048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttctcatcacccaggaCgctcctccaggcctcccact	7	18	2	0	rs200184645		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:120172048C>T	ENST00000261833.7	-	25	3197	c.3145G>A	c.(3145-3147)Gtc>Atc	p.V1049I	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.V1091I	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1049					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCACCCAGGACGCTCCTCCAG	0.552													C|||	1	0.000199681	0	0	5008	,	,		18854	0.001		0	False		,,,				2504	0																0								ENSG00000122966						125	103	110					12																	120172048		2203	4300	6503	CIT	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3145G>A	12.37:g.120172048C>T	ENSP00000261833:p.Val1049Ile	Somatic	0	86	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	77	12.50	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.V1049I	ENST00000261833.7	37	c.3145	CCDS9192.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.85	1.761781	0.31228	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.63913	-0.04;-0.07;1.82	5.35	5.35	0.76521	.	0.253235	0.33457	N	0.004887	T	0.38026	0.1025	N	0.08118	0	0.31643	N	0.647827	P;B;B	0.35551	0.509;0.288;0.216	B;B;B	0.24269	0.052;0.036;0.039	T	0.50808	-0.8784	10	0.38643	T	0.18	.	13.9743	0.64262	0.1517:0.8483:0.0:0.0	.	1091;1049;582	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	I	1091;1049;91	ENSP00000376306:V1091I;ENSP00000261833:V1049I;ENSP00000446105:V91I	ENSP00000261833:V1049I	V	-	1	0	CIT	118656431	0.937000	0.31787	0.989000	0.46669	0.340000	0.28889	1.988000	0.40697	2.508000	0.84585	0.467000	0.42956	GTC	-	pirsf_Citron_Rho-interacting_kinase		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	protein_coding	OTTHUMT00000259410.4	C	NM_007174	rs200184645		120172048	-1	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	SNP	0.981	T	T	120172048	C	T	120172048	3	4	45	1	0	0	0	0	1	0	0	0	3440	536	19	1	3030	1	CIT	12	120172048	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	8850045	120172048	13679847	49	2686											
ASPG	374569	genome.wustl.edu	37	chr14	104565230	104565230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgtttcggggcaaccGggcaaccaaggtagacgctc	13	12	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr14:104565230G>A	ENST00000551177.1	+	6	646	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	ASPG_ENST00000546892.2_Missense_Mutation_p.R185Q|ASPG_ENST00000455920.2_Missense_Mutation_p.R185Q	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	185	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGGGCAACCGGGCAACCAAG	0.622																																																	0								ENSG00000166183						51	60	57					14																	104565230		2018	4175	6193	ASPG	SO:0001583	missense	0			-	HGNC		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.554G>A	14.37:g.104565230G>A	ENSP00000450040:p.Arg185Gln	Somatic	0	105	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	115	8.73	B9EGQ2|Q8IV80	Missense_Mutation	SNP							pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI	p.R185Q	ENST00000551177.1	37	c.554	CCDS45170.2	14	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020256	0.75275	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.27402	1.67;1.67;1.67	3.97	3.97	0.46021	.	0.000000	0.85682	U	0.000000	T	0.60327	0.2260	M	0.87328	2.875	0.49051	D	0.999742	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.70114	-0.4961	10	0.87932	D	0	-17.9254	14.8127	0.70008	0.0:0.0:1.0:0.0	.	185;185;185;213	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	Q	185;213;185;185	ENSP00000450040:R185Q;ENSP00000448911:R185Q;ENSP00000389003:R185Q	ENSP00000299234:R213Q	R	+	2	0	ASPG	103634983	1.000000	0.71417	0.236000	0.24074	0.619000	0.37552	5.429000	0.66495	1.752000	0.51891	0.491000	0.48974	CGG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI		0.622	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	protein_coding	OTTHUMT00000407005.1	G	NM_001080464	-		104565230	1	no_errors	ENST00000455920	ensembl	human	known	74_37	missense	SNP	0.994	A	A	104565230	G	A	104565230	3	1	45	1	0	0	0	0	1	0	0	0	1052	1116	39	1	576	1	ASPG	14	104565230	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		104565230	2784310	50	2687											
LPCAT4	254531	genome.wustl.edu	37	chr15	34651485	34651489	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-													catagagtgggtcatggaggGagaagttctggaactgacct							TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	GAGAA	GAGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:34651485_34651489delGAGAA	ENST00000314891.6	-	14	1591_1595	c.1414_1418delTTCTC	c.(1414-1419)ttctccfs	p.FS472fs		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	472					cellular lipid metabolic process (GO:0044255)|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)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTCATGGAGGGAGAAGTTCTGGAAC	0.502																																																	0								ENSG00000176454																																			LPCAT4	SO:0001589	frameshift_variant	0				HGNC	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1414_1418delTTCTC	15.37:g.34651485_34651489delGAGAA	ENSP00000317300:p.Phe472fs	Somatic					0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Frame_Shift_Del	DEL							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.F472fs	ENST00000314891.6	37	c.1418_1414	CCDS32191.1	15																																																																																			-	NULL		0.502	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	protein_coding	OTTHUMT00000418028.2	GAGAA	NM_153613			34651489	-1	no_errors	ENST00000314891	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-	-	34651489	GAGAA	-	34651485	7	5	45	1	0	1	0	1	0	0	0	0	8915	1174	41	0	160	0	LPCAT4	15	34651485	Frame_Shift_Del	DEL	GAGAA	TCGA-DX-A3M2-01A-21D-A228-09		34651485	67879907	51	2688											
SPRED1	161742	genome.wustl.edu	37	chr15	38641674	38641674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagaagtatggaatacGtacagcggcaaatatccaag	11	7	0	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:38641674G>A	ENST00000299084.4	+	6	1494	c.634G>A	c.(634-636)Gta>Ata	p.V212I		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	212					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATGGAATACGTACAGCGGCA	0.328									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0								ENSG00000166068						99	93	95					15																	38641674		2200	4297	6497	SPRED1	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	-	HGNC	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.634G>A	15.37:g.38641674G>A	ENSP00000299084:p.Val212Ile	Somatic	0	43	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP							pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.V212I	ENST00000299084.4	37	c.634	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517971	0.27211	.	.	ENSG00000166068	ENST00000299084	T	0.72615	-0.67	5.16	4.24	0.50183	.	0.424608	0.21139	N	0.079510	T	0.56093	0.1962	L	0.36672	1.1	0.24063	N	0.996003	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.21540	T	0.41	-20.5914	8.6332	0.33933	0.1024:0.0:0.8976:0.0	.	212	Q7Z699	SPRE1_HUMAN	I	212	ENSP00000299084:V212I	ENSP00000299084:V212I	V	+	1	0	SPRED1	36428966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.061000	0.41403	2.428000	0.82296	0.650000	0.86243	GTA	-	NULL		0.328	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	protein_coding	OTTHUMT00000418217.1	G		-		38641674	1	no_errors	ENST00000299084	ensembl	human	known	74_37	missense	SNP	0.997	A	A	38641674	G	A	38641674	3	1	45	1	0	0	0	0	1	0	0	0	15099	1145	40	1	656	1	SPRED1	15	38641674	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	3990189	38641674	63889718	52	2689											
SEMA6D	80031	genome.wustl.edu	37	chr15	48057167	48057167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggctctgaagctggcatGgtacttaaagttctggcaaa	12	7	2	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:48057167G>T	ENST00000316364.5	+	13	1780	c.1341G>T	c.(1339-1341)atG>atT	p.M447I	SEMA6D_ENST00000536845.2_Missense_Mutation_p.M447I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M447I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.M447I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M447I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M447I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M447I|SEMA6D_ENST00000389425.3_Missense_Mutation_p.M447I|SEMA6D_ENST00000558816.1_Missense_Mutation_p.M447I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M447I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M447I|SEMA6D_ENST00000355997.3_Missense_Mutation_p.M447I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	447	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)		AAGCTGGCATGGTACTTAAAG	0.468																																																	0								ENSG00000137872						127	110	116					15																	48057167		2198	4297	6495	SEMA6D	SO:0001583	missense	0			-	HGNC	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.1341G>T	15.37:g.48057167G>T	ENSP00000324857:p.Met447Ile	Somatic	0	57	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.M447I	ENST00000316364.5	37	c.1341	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108758	0.06924	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.59	1.42	0.22433	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235180	0.43110	D	0.000608	T	0.02418	0.0074	N	0.00885	-1.115	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.44174	-0.9345	10	0.16896	T	0.51	.	4.786	0.13225	0.2056:0.0:0.4368:0.3575	.	447;447;447;447;447	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	I	447	ENSP00000442040:M447I;ENSP00000446152:M447I;ENSP00000324857:M447I;ENSP00000374084:M447I;ENSP00000374083:M447I;ENSP00000346786:M447I;ENSP00000350770:M447I;ENSP00000374079:M447I;ENSP00000348276:M447I;ENSP00000374076:M447I	ENSP00000324857:M447I	M	+	3	0	SEMA6D	45844459	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.267000	0.33050	0.270000	0.21984	-0.136000	0.14681	ATG	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	G	NM_024966	-		48057167	1	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	SNP	0.849	T	T	48057167	G	T	48057167	3	4	45	1	0	0	0	0	1	0	0	0	14050	1348	47	3	1387	3	SEMA6D	15	48057167	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	9415493	48057167	54474225	53	2690											
TLN2	83660	genome.wustl.edu	37	chr15	63097816	63097816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgttccagtcaaaagaCgtacctgaaaagacatcatc	8	10	2	3			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:63097816C>T	ENST00000561311.1	+	50	6725	c.6495C>T	c.(6493-6495)gaC>gaT	p.D2165D	TLN2_ENST00000306829.6_Silent_p.D2165D			Q9Y4G6	TLN2_HUMAN	talin 2	2165					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTCAAAAGACGTACCTGAAA	0.423																																																	0								ENSG00000171914						51	47	48					15																	63097816		2203	4300	6503	TLN2	SO:0001819	synonymous_variant	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6495C>T	15.37:g.63097816C>T		Somatic	0	46	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	A6NLB8	Silent	SNP							pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.D2165	ENST00000561311.1	37	c.6495	CCDS32261.1	15																																																																																			-	NULL		0.423	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	C		-		63097816	1	no_errors	ENST00000306829	ensembl	human	known	74_37	silent	SNP	0.000	T	T	63097816	C	T	63097816	2	4	45	1	0	0	0	0	0	0	0	1	15955	535	19	1		1	TLN2	15	63097816	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	15040649	63097816	39433576	54	2691											
CSPG4	1464	genome.wustl.edu	37	chr15	75982848	75982848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagccctcatgcacatcGggggtcagaggccggaggag	16	12	2	1	rs554682228	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:75982848G>A	ENST00000308508.5	-	3	650	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	186	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATGCACATCGGGGGTCAGAG	0.657													G|||	13	0.00259585	0	0	5008	,	,		18040	0		0	False		,,,				2504	0.0133																0								ENSG00000173546						38	42	41					15																	75982848		2117	4114	6231	CSPG4	SO:0001819	synonymous_variant	0			-	HGNC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.558C>T	15.37:g.75982848G>A		Somatic	0	110	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	87	17.14	D3DW77|Q92675	Silent	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.P186	ENST00000308508.5	37	c.558	CCDS10284.1	15																																																																																			-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	protein_coding	OTTHUMT00000286472.1	G	NM_001897	-		75982848	-1	no_errors	ENST00000308508	ensembl	human	known	74_37	silent	SNP	0.000	A	A	75982848	G	A	75982848	2	1	45	1	0	0	0	0	0	0	0	1	3962	1103	39	1		1	CSPG4	15	75982848	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	12885032	75982848	26548544	55	2692											
SV2B	9899	genome.wustl.edu	37	chr15	91827281	91827281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagttcatcaactgtcGgtttatcaactccaccttcc	5	14	3	0	rs555926912		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:91827281G>A	ENST00000394232.1	+	11	2008	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SV2B_ENST00000330276.4_Missense_Mutation_p.R513Q|SV2B_ENST00000545111.2_Missense_Mutation_p.R362Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	513					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCAACTGTCGGTTTATCAAC	0.527																																																	0								ENSG00000185518						182	174	177					15																	91827281		2198	4298	6496	SV2B	SO:0001583	missense	0			-	HGNC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1538G>A	15.37:g.91827281G>A	ENSP00000377779:p.Arg513Gln	Somatic	0	41	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.54	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.R513Q	ENST00000394232.1	37	c.1538	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578524	0.46006	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.39787	1.06;1.06;1.06	5.61	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.406771	0.25881	N	0.027700	T	0.24431	0.0592	N	0.21448	0.665	0.34492	D	0.705131	B	0.21821	0.061	B	0.19391	0.025	T	0.23226	-1.0194	10	0.13108	T	0.6	-9.1817	7.7407	0.28839	0.2641:0.0:0.7358:0.0	.	513	Q7L1I2	SV2B_HUMAN	Q	362;513;513	ENSP00000443243:R362Q;ENSP00000377779:R513Q;ENSP00000332818:R513Q	ENSP00000332818:R513Q	R	+	2	0	SV2B	89628285	0.015000	0.18098	0.972000	0.41901	0.997000	0.91878	0.371000	0.20450	0.714000	0.32081	0.586000	0.80456	CGG	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.527	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	protein_coding	OTTHUMT00000313494.3	G	NM_014848	-		91827281	1	no_errors	ENST00000330276	ensembl	human	known	74_37	missense	SNP	0.897	A	A	91827281	G	A	91827281	3	1	45	1	0	0	0	0	1	0	0	0	15425	1116	39	1	1576	1	SV2B	15	91827281	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	15844433	91827281	10704111	56	2693											
LRRK1	79705	genome.wustl.edu	37	chr15	101605774	101605774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggtacagcaatgggcCgggcctccttgtcatcgact	13	12	2	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:101605774C>T	ENST00000388948.3	+	32	5491	c.5132C>T	c.(5131-5133)cCg>cTg	p.P1711L	LRRK1_ENST00000284395.5_Missense_Mutation_p.P1708L|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAATGGGCCGGGCCTCCTT	0.612																																																	0								ENSG00000154237						97	109	105					15																	101605774		2047	4192	6239	LRRK1	SO:0001583	missense	0			-	HGNC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5132C>T	15.37:g.101605774C>T	ENSP00000373600:p.Pro1711Leu	Somatic	0	29	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P1711L	ENST00000388948.3	37	c.5132	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.175740	0.94807	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.70164	-0.46;-0.46	5.7	5.7	0.88788	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81867	-0.0735	10	0.59425	D	0.04	.	19.8314	0.96638	0.0:1.0:0.0:0.0	.	1711	Q38SD2	LRRK1_HUMAN	L	1711;1708;402;265	ENSP00000373600:P1711L;ENSP00000284395:P1708L	ENSP00000284395:P1708L	P	+	2	0	LRRK1	99423297	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	7.665000	0.83852	2.675000	0.91044	0.655000	0.94253	CCG	-	superfamily_WD40_repeat_dom		0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	C	NM_024652	-		101605774	1	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101605774	C	T	101605774	3	4	45	1	0	0	0	0	1	0	0	0	9034	652	23	1	5254	1	LRRK1	15	101605774	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	9778493	101605774	925618	57	2694											
GPT2	84706	genome.wustl.edu	37	chr16	46943614	46943614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgatcctgaagatcctcGtctccgggggcggcaagtca	13	12	2	3			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr16:46943614G>A	ENST00000340124.4	+	6	707	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	GPT2_ENST00000440783.2_Missense_Mutation_p.V99I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	199					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GAAGATCCTCGTCTCCGGGGG	0.552																																																	0								ENSG00000166123						52	52	52					16																	46943614		2203	4300	6503	GPT2	SO:0001583	missense	0			-	HGNC		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.595G>A	16.37:g.46943614G>A	ENSP00000345282:p.Val199Ile	Somatic	0	75	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	101	19.84	Q8N9E2	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.V199I	ENST00000340124.4	37	c.595	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	G	7.048	0.563870	0.13498	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.22336	1.98;1.96	5.12	5.12	0.69794	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	N	0.03154	-0.405	0.58432	D	0.999997	B	0.15719	0.014	B	0.13407	0.009	T	0.12656	-1.0539	10	0.02654	T	1	.	14.0263	0.64588	0.0743:0.0:0.9257:0.0	.	199	Q8TD30	ALAT2_HUMAN	I	199;99	ENSP00000345282:V199I;ENSP00000413804:V99I	ENSP00000345282:V199I	V	+	1	0	GPT2	45501115	1.000000	0.71417	0.994000	0.49952	0.223000	0.24884	7.316000	0.79007	2.664000	0.90586	0.655000	0.94253	GTC	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.552	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	protein_coding	OTTHUMT00000255741.2	G		-		46943614	1	no_errors	ENST00000340124	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46943614	G	A	46943614	3	1	45	1	0	0	0	0	1	0	0	0	6740	1145	40	1	613	1	GPT2	16	46943614	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		46943614	43411139	58	2695											
TP53	7157	genome.wustl.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	12	7	0	0	rs587782664		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	GRCh37	CM011014	TP53	M		ENSG00000141510						130	102	112					17																	7577570		2203	4300	6503	TP53	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;	-	HGNC	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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	Somatic	0	105	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	66	46.34	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.M237I	ENST00000269305.4	37	c.711	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	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);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577570	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577570	C	T	7577570	3	4	45	1	0	0	0	0	1	0	0	0	16388	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		7577570	73617640	59	2696											
MYO15A	51168	genome.wustl.edu	37	chr17	18023186	18023186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccatacccaccctatgacCtcccataccacactccctac	2	22	0	1	rs367955736		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:18023186C>A	ENST00000205890.5	+	2	1410	c.1072C>A	c.(1072-1074)Ctc>Atc	p.L358I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	358					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCTATGACCTCCCATACCA	0.597																																																	0								ENSG00000091536						97	107	103					17																	18023186		2039	4183	6222	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1072C>A	17.37:g.18023186C>A	ENSP00000205890:p.Leu358Ile	Somatic	0	59	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	62	13.89	B4DFC7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L358I	ENST00000205890.5	37	c.1072	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927103	0.18056	.	.	ENSG00000091536	ENST00000205890	D	0.88354	-2.37	3.64	2.32	0.28847	.	.	.	.	.	T	0.77525	0.4143	N	0.19112	0.55	0.58432	D	0.999993	B	0.26935	0.164	B	0.25405	0.06	T	0.68078	-0.5504	9	0.30854	T	0.27	.	6.2698	0.20949	0.0:0.6967:0.0:0.3033	.	358	Q9UKN7	MYO15_HUMAN	I	358	ENSP00000205890:L358I	ENSP00000205890:L358I	L	+	1	0	MYO15A	17963911	0.000000	0.05858	0.549000	0.28204	0.485000	0.33311	-0.320000	0.08028	0.784000	0.33661	0.561000	0.74099	CTC	-	NULL		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	C	NM_016239	-		18023186	1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	0.759	A	A	18023186	C	A	18023186	3	1	45	1	0	0	0	0	1	0	0	0	10065	681	24	3	1074	3	MYO15A	17	18023186	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	10445616	18023186	63172024	60	2697											
KRT35	3886	genome.wustl.edu	37	chr17	39635725	39635725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttgatgtctgactccacCagctgccgcagggacacctc	10	16	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:39635725C>T	ENST00000393989.1	-	3	627	c.585G>A	c.(583-585)ctG>ctA	p.L195L	KRT35_ENST00000246639.2_Silent_p.L165L	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	195	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGACTCCACCAGCTGCCGCA	0.592																																																	0								ENSG00000197079						86	82	83					17																	39635725		2203	4300	6503	KRT35	SO:0001819	synonymous_variant	0			-	HGNC	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.585G>A	17.37:g.39635725C>T		Somatic	0	74	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	O76012|Q92651	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L195	ENST00000393989.1	37	c.585	CCDS11394.2	17																																																																																			-	pfam_IF		0.592	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	protein_coding		C	NM_002280	-		39635725	-1	no_errors	ENST00000393989	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39635725	C	T	39635725	2	4	45	1	0	0	0	0	0	0	0	1	8474	581	21	2		2	KRT35	17	39635725	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	21612539	39635725	41559485	61	2698											
RSAD1	55316	genome.wustl.edu	37	chr17	48562112	48562112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggttttccaggggtcttCggtgttcctgggagggtctg	16	8	2	0	rs375677855		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:48562112C>T	ENST00000258955.2	+	9	1304	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	407					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGGGTCTTCGGTGTTCCTG	0.607													C|||	1	0.000199681	0	0	5008	,	,		17114	0		0	False		,,,				2504	0.001																0								ENSG00000136444	C	TRP/ARG	0,4406		0,0,2203	80	69	73		1219	4.7	1	17		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	RSAD1	NM_018346.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	407/443	48562112	1,13005	2203	4300	6503	RSAD1	SO:0001583	missense	0			-	HGNC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1219C>T	17.37:g.48562112C>T	ENSP00000258955:p.Arg407Trp	Somatic	0	89	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	95	10.38	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP							pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.R407W	ENST00000258955.2	37	c.1219	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434114	0.83776	0.0	1.16E-4	ENSG00000136444	ENST00000258955	T	0.55588	0.51	5.76	4.74	0.60224	HemN, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.08118	0	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.62177	-0.6909	10	0.87932	D	0	-38.2165	14.0583	0.64784	0.2485:0.7515:0.0:0.0	.	407	Q9HA92	RSAD1_HUMAN	W	407	ENSP00000258955:R407W	ENSP00000258955:R407W	R	+	1	2	RSAD1	45917111	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	1.702000	0.37836	2.709000	0.92574	0.655000	0.94253	CGG	-	pfam_HemN_C_dom		0.607	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	C	NM_018346	-		48562112	1	no_errors	ENST00000258955	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48562112	C	T	48562112	3	4	45	1	0	0	0	0	1	0	0	0	13702	875	31	1	1253	1	RSAD1	17	48562112	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	8926387	48562112	32633098	62	2699											
SLC16A5	9121	genome.wustl.edu	37	chr17	73096768	73096768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgtgggctactgcctggCgtacagcgtgtccatgagtg	15	11	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:73096768C>T	ENST00000450736.2	+	4	1425	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A377V|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A337V|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A337V			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	337					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TACTGCCTGGCGTACAGCGTG	0.592																																																	0								ENSG00000170190						370	318	335					17																	73096768		2203	4300	6503	SLC16A5	SO:0001583	missense	0			-	HGNC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1010C>T	17.37:g.73096768C>T	ENSP00000390564:p.Ala337Val	Somatic	0	50	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B4E288	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.A337V	ENST00000450736.2	37	c.1010	CCDS11713.1	17	.	.	.	.	.	.	.	.	.	.	C	6.834	0.523111	0.13066	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.79653	-1.29;-1.29;-1.29	4.72	-0.355	0.12587	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.784752	0.12030	N	0.506064	T	0.42765	0.1217	N	0.00538	-1.39	0.20764	N	0.999851	B;B	0.11235	0.001;0.004	B;B	0.06405	0.001;0.002	T	0.41893	-0.9483	10	0.10902	T	0.67	.	4.803	0.13307	0.1276:0.2205:0.0:0.6518	.	377;337	B4E288;O15375	.;MOT6_HUMAN	V	337;337;377	ENSP00000330141:A337V;ENSP00000390564:A337V;ENSP00000440212:A377V	ENSP00000330141:A337V	A	+	2	0	SLC16A5	70608363	0.431000	0.25546	0.893000	0.35052	0.723000	0.41478	1.448000	0.35112	-0.297000	0.08934	-1.166000	0.01754	GCG	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	protein_coding	OTTHUMT00000445547.1	C	NM_004695	-		73096768	1	no_errors	ENST00000329783	ensembl	human	known	74_37	missense	SNP	0.959	T	T	73096768	C	T	73096768	3	4	45	1	0	0	0	0	1	0	0	0	14419	768	27	1	1020	1	SLC16A5	17	73096768	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	24534656	73096768	8098442	63	2700											
SYT4	6860	genome.wustl.edu	37	chr18	40850433	40850433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgcccgattacctcatttCgggaccccctttcagaatcc	6	16	2	1	rs149020215	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr18:40850433C>T	ENST00000255224.3	-	4	1519	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	SYT4_ENST00000590752.1_Missense_Mutation_p.R366Q|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	384	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.R384Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TACCTCATTTCGGGACCCCCT	0.458																																					NSCLC(85;81 1419 2855 22820 35912)												2	Substitution - Missense(2)	skin(2)						ENSG00000132872	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	120	118	119		1151	2.9	1	18	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SYT4	NM_020783.3	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	384/426	40850433	3,13003	2203	4300	6503	SYT4	SO:0001583	missense	0			-	HGNC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1151G>A	18.37:g.40850433C>T	ENSP00000255224:p.Arg384Gln	Somatic	0	43	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DEU3|Q9P2K4	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.R384Q	ENST00000255224.3	37	c.1151	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269255	0.40095	2.27E-4	2.33E-4	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.72942	-0.7	5.58	2.87	0.33458	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.178457	0.46758	N	0.000275	T	0.64778	0.2629	L	0.58510	1.815	0.48135	D	0.999591	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.59773	-0.7391	10	0.54805	T	0.06	.	10.7993	0.46478	0.0:0.7959:0.0:0.2041	.	366;384	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Q	384;189	ENSP00000255224:R384Q	ENSP00000255224:R384Q	R	-	2	0	SYT4	39104431	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.302000	0.33459	0.338000	0.23692	-0.136000	0.14681	CGA	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.458	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	protein_coding	OTTHUMT00000255851.2	C	NM_020783	rs149020215		40850433	-1	no_errors	ENST00000255224	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40850433	C	T	40850433	3	4	45	1	0	0	0	0	1	0	0	0	15483	884	31	1	130	1	SYT4	18	40850433	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		40850433	37226815	64	2701											
CD209	30835	genome.wustl.edu	37	chr19	7808072	7808072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgccactaaattccgcGcagtcttcctccccaacgtt	5	17	1	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:7808072G>A	ENST00000315599.7	-	7	1090	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	CD209_ENST00000354397.6_Silent_p.C350C|CD209_ENST00000593660.1_Silent_p.C286C|CD209_ENST00000602261.1_Silent_p.C264C|CD209_ENST00000301357.8_Silent_p.C220C|CD209_ENST00000601256.1_Missense_Mutation_p.R295C|CD209_ENST00000204801.8_Silent_p.C312C|CD209_ENST00000601951.1_Silent_p.C332C|CD209_ENST00000315591.8_Silent_p.C332C|CD209_ENST00000394173.4_Silent_p.C195C|CD209_ENST00000593821.1_Silent_p.C220C|CD209_ENST00000394161.5_Silent_p.C120C	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	356	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAAATTCCGCGCAGTCTTCCT	0.527																																																	0								ENSG00000090659						251	228	236					19																	7808072		2203	4300	6503	CD209	SO:0001819	synonymous_variant	0			-	HGNC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1068C>T	19.37:g.7808072G>A		Somatic	0	78	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.32	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP							superfamily_C-type_lectin_fold	p.R295C	ENST00000315599.7	37	c.883	CCDS12186.1	19																																																																																			-	NULL		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD209	protein_coding	OTTHUMT00000462241.1	G	NM_021155	-		7808072	-1	no_errors	ENST00000601256	ensembl	human	known	74_37	missense	SNP	0.012	A	A	7808072	G	A	7808072	2	1	45	1	0	0	0	0	0	0	0	1	2986	1079	38	1		1	CD209	19	7808072	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		7808072	51320911	65	2702											
OR7G2	390882	genome.wustl.edu	37	chr19	9213641	9213641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaggcagcctgagtaCgtgatgctccgattctgagc	15	9	1	4			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:9213641C>T	ENST00000305456.2	-	1	341	c.342G>A	c.(340-342)acG>acA	p.T114T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	93						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGCCTGAGTACGTGATGCTCC	0.468																																					Esophageal Squamous(67;143 1448 28637 40648)												0								ENSG00000170923						147	136	140					19																	9213641		2203	4300	6503	OR7G2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.342G>A	19.37:g.9213641C>T		Somatic	0	80	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	76	23.23	Q6IFJ4|Q96RA0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T114	ENST00000305456.2	37	c.342	CCDS32897.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G2	protein_coding	OTTHUMT00000448994.1	C		-		9213641	-1	no_errors	ENST00000305456	ensembl	human	known	74_37	silent	SNP	0.000	T	T	9213641	C	T	9213641	2	4	45	1	0	0	0	0	0	0	0	1	11225	523	19	1		1	OR7G2	19	9213641	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	1405569	9213641	49915342	66	2703											
FCHO1	23149	genome.wustl.edu	37	chr19	17881351	17881351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggaccaggagcggctgCggagggagagtaccagccag	18	10	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:17881351C>T	ENST00000596536.1	+	8	737	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	FCHO1_ENST00000600676.1_Missense_Mutation_p.R152W|FCHO1_ENST00000597512.1_Missense_Mutation_p.R159W|FCHO1_ENST00000252771.7_Missense_Mutation_p.R152W|FCHO1_ENST00000596951.1_Missense_Mutation_p.R152W|FCHO1_ENST00000389133.4_Missense_Mutation_p.R152W|FCHO1_ENST00000539407.1_Missense_Mutation_p.R152W|FCHO1_ENST00000595033.1_Missense_Mutation_p.R102W|FCHO1_ENST00000594202.1_Missense_Mutation_p.R152W	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	152	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGAGCGGCTGCGGAGGGAGAG	0.632																																																	0								ENSG00000130475						38	39	39					19																	17881351		2203	4299	6502	FCHO1	SO:0001583	missense	0			-	HGNC	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.454C>T	19.37:g.17881351C>T	ENSP00000470731:p.Arg152Trp	Somatic	0	49	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP							pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.R152W	ENST00000596536.1	37	c.454	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841493	0.71488	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.50001	0.76;0.76;0.76	4.56	2.19	0.27852	.	0.056072	0.64402	D	0.000004	T	0.63581	0.2523	M	0.73962	2.25	0.42653	D	0.99345	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.66093	-0.6009	10	0.87932	D	0	-24.2303	8.6636	0.34108	0.4459:0.5541:0.0:0.0	.	102;152;152	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	W	152	ENSP00000252771:R152W;ENSP00000373785:R152W;ENSP00000437978:R152W	ENSP00000252771:R152W	R	+	1	2	FCHO1	17742351	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	1.412000	0.34714	1.076000	0.40961	0.491000	0.48974	CGG	-	NULL		0.632	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	protein_coding	OTTHUMT00000466946.2	C	NM_015122	-		17881351	1	no_errors	ENST00000252771	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17881351	C	T	17881351	3	4	45	1	0	0	0	0	1	0	0	0	5789	759	27	1	472	1	FCHO1	19	17881351	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	8667710	17881351	41247632	67	2704											
ZNF85	7639	genome.wustl.edu	37	chr19	21132245	21132245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacccatagaaaaattcatActggagagaaaccttacaaa	5	9	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:21132245A>G	ENST00000328178.8	+	4	1038	c.925A>G	c.(925-927)Act>Gct	p.T309A	ZNF85_ENST00000601023.1_Missense_Mutation_p.T250A|ZNF85_ENST00000345030.6_Missense_Mutation_p.T276A	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	309					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAAATTCATACTGGAGAGAA	0.363																																																	0								ENSG00000105750						36	39	38					19																	21132245		2201	4300	6501	ZNF85	SO:0001583	missense	0			-	HGNC	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.925A>G	19.37:g.21132245A>G	ENSP00000329793:p.Thr309Ala	Somatic	0	18	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	B9ZVP4|Q6NVI0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T309A	ENST00000328178.8	37	c.925	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	8.506	0.865461	0.17250	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.26518	1.73;1.73	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15998	0.0385	N	0.11845	0.185	0.80722	D	1	B;B;B	0.26775	0.031;0.005;0.159	B;B;B	0.36418	0.01;0.006;0.224	T	0.09465	-1.0673	9	0.52906	T	0.07	.	7.5498	0.27790	1.0:0.0:0.0:0.0	.	276;250;309	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	A	309;276;184	ENSP00000329793:T309A;ENSP00000342340:T276A	ENSP00000329793:T309A	T	+	1	0	ZNF85	20924085	0.987000	0.35691	0.264000	0.24511	0.544000	0.35116	3.538000	0.53597	0.569000	0.29329	0.379000	0.24179	ACT	-	pfscan_Znf_C2H2		0.363	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	protein_coding	OTTHUMT00000463430.1	A	NM_003429	-		21132245	1	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21132245	A	G	21132245	3	3	45	1	0	0	0	0	1	0	0	0	18200	391	14	5	939	5	ZNF85	19	21132245	Missense_Mutation	SNP	A	TCGA-DX-A3M2-01A-21D-A228-09	3250894	21132245	37996738	68	2705											
SLC7A9	11136	genome.wustl.edu	37	chr19	33355561	33355561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgaggaccccgcaagccGcccatatgatgaggcagggc	14	14	0	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:33355561G>A	ENST00000023064.4	-	3	400	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A70V|SLC7A9_ENST00000587772.1_Missense_Mutation_p.A70V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	70			A -> V (in CSNU; mild loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCGCAAGCCGCCCATATGAT	0.622																																					GBM(181;1335 2108 9644 44178 46689)												0			GRCh37	CM010443	SLC7A9	M		ENSG00000021488						93	90	91					19																	33355561		2203	4300	6503	SLC7A9	SO:0001583	missense	0			-	HGNC	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.209C>T	19.37:g.33355561G>A	ENSP00000023064:p.Ala70Val	Somatic	0	110	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	B2R9A6	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.A70V	ENST00000023064.4	37	c.209	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657393	0.29425	.	.	ENSG00000021488	ENST00000023064	D	0.88896	-2.44	5.13	4.09	0.47781	Amino acid permease domain (1);	0.242178	0.48286	N	0.000192	T	0.80347	0.4606	N	0.20328	0.56	0.53005	D	0.999966	B	0.18461	0.028	B	0.23275	0.045	T	0.73091	-0.4092	10	0.14656	T	0.56	.	14.0684	0.64847	0.0735:0.0:0.9265:0.0	.	70	P82251	BAT1_HUMAN	V	70	ENSP00000023064:A70V	ENSP00000023064:A70V	A	-	2	0	SLC7A9	38047401	1.000000	0.71417	0.779000	0.31741	0.137000	0.21094	5.016000	0.64041	1.306000	0.44926	0.462000	0.41574	GCG	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.622	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	G		-		33355561	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	SNP	0.993	A	A	33355561	G	A	33355561	3	1	45	1	0	0	0	0	1	0	0	0	14713	1087	38	1	1298	1	SLC7A9	19	33355561	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	12223316	33355561	25773422	69	2706											
HPN	3249	genome.wustl.edu	37	chr19	35550828	35550828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcgggcgccaatggcaCgtcgggcttcttctgtgtgg	16	11	2	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:35550828C>T	ENST00000262626.2	+	6	1166	c.341C>T	c.(340-342)aCg>aTg	p.T114M	HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.T114M|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	114	SRCR.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCAATGGCACGTCGGGCTTC	0.711																																																	0								ENSG00000105707						17	16	16					19																	35550828		2194	4293	6487	HPN	SO:0001583	missense	0			-	HGNC		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.341C>T	19.37:g.35550828C>T	ENSP00000262626:p.Thr114Met	Somatic	0	42	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	B2RDS4	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T114M	ENST00000262626.2	37	c.341	CCDS32993.1	19	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527150	0.64860	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	T;T	0.61274	0.12;0.12	5.17	5.17	0.71159	Speract/scavenger receptor-related (1);Hepsin, SRCR (2);	0.191635	0.45606	D	0.000343	T	0.64907	0.2641	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.958;0.967	T	0.64202	-0.6463	10	0.39692	T	0.17	.	16.1567	0.81673	0.0:1.0:0.0:0.0	.	86;114	B7Z1L4;P05981	.;HEPS_HUMAN	M	114;114;86	ENSP00000262626:T114M;ENSP00000376060:T114M	ENSP00000262626:T114M	T	+	2	0	HPN	40242668	0.957000	0.32711	0.997000	0.53966	0.486000	0.33341	2.118000	0.41949	2.420000	0.82092	0.505000	0.49811	ACG	-	pfam_Hepsin-SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel		0.711	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	protein_coding	OTTHUMT00000461573.1	C	NM_002151	-		35550828	1	no_errors	ENST00000262626	ensembl	human	known	74_37	missense	SNP	0.995	T	T	35550828	C	T	35550828	3	4	45	1	0	0	0	0	1	0	0	0	7338	536	19	1	359	1	HPN	19	35550828	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	2195267	35550828	23578155	70	2707											
SPTBN4	57731	genome.wustl.edu	37	chr19	41025405	41025405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtggccgaggtgcgcGcccaggtgcgtgagaagcgg	21	9	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:41025405G>A	ENST00000352632.3	+	16	3087	c.3001G>A	c.(3001-3003)Gcc>Acc	p.A1001T	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1001T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1001T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1001T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1001T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1001					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGTGCGCGCCCAGGTGCG	0.687																																																	0								ENSG00000160460						20	25	23					19																	41025405		2201	4294	6495	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3001G>A	19.37:g.41025405G>A	ENSP00000263373:p.Ala1001Thr	Somatic	0	86	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1001T	ENST00000352632.3	37	c.3001	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188915	0.38707	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.78003	-1.02;-1.01;-1.14	4.63	-3.11	0.05299	.	0.830635	0.10535	N	0.663359	T	0.52709	0.1751	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.21690	-1.0238	10	0.29301	T	0.29	.	4.3562	0.11179	0.4328:0.0:0.1962:0.371	.	1001;1001	Q9H254;Q71S06	SPTN4_HUMAN;.	T	1001	ENSP00000263373:A1001T;ENSP00000340345:A1001T;ENSP00000340741:A1001T	ENSP00000340345:A1001T	A	+	1	0	SPTBN4	45717245	0.001000	0.12720	0.978000	0.43139	0.910000	0.53928	-0.085000	0.11250	-0.293000	0.08986	-1.244000	0.01528	GCC	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41025405	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	0.990	A	A	41025405	G	A	41025405	3	1	45	1	0	0	0	0	1	0	0	0	15128	1087	38	1	3059	1	SPTBN4	19	41025405	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	5474577	41025405	18103578	71	2708											
SPHK2	56848	genome.wustl.edu	37	chr19	49129289	49129289	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttggctcctacccagccCgaggcccacgctttgccctc	9	18	0	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:49129289C>T	ENST00000245222.4	+	3	547	c.181C>T	c.(181-183)Cga>Tga	p.R61*	SPHK2_ENST00000598088.1_Nonsense_Mutation_p.R61*|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599029.1_Nonsense_Mutation_p.R25*|AC022154.7_ENST00000594850.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000443164.1_Nonsense_Mutation_p.R123*|SPHK2_ENST00000601712.1_Nonsense_Mutation_p.R25*|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000599748.1_Nonsense_Mutation_p.R25*|SPHK2_ENST00000340932.3_Nonsense_Mutation_p.R25*	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	61	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTACCCAGCCCGAGGCCCACG	0.692																																																	0								ENSG00000063176						38	37	38					19																	49129289		2202	4299	6501	SPHK2	SO:0001587	stop_gained	0			-	HGNC	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.181C>T	19.37:g.49129289C>T	ENSP00000245222:p.Arg61*	Somatic	0	34	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Nonsense_Mutation	SNP							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.R123*	ENST00000245222.4	37	c.367	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.665699	0.96745	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	.	.	.	4.16	1.96	0.26148	.	1.489510	0.04152	N	0.321466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-27.9896	5.1356	0.14934	0.3623:0.5373:0.0:0.1003	.	.	.	.	X	61;61;25;123	.	ENSP00000245222:R61X	R	+	1	2	SPHK2	53821101	0.668000	0.27493	0.057000	0.19452	0.557000	0.35523	0.996000	0.29719	0.493000	0.27837	0.557000	0.71058	CGA	-	NULL		0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	protein_coding	OTTHUMT00000466153.1	C		-		49129289	1	no_errors	ENST00000443164	ensembl	human	known	74_37	nonsense	SNP	0.058	T	T	49129289	C	T	49129289	4	4	45	1	0	0	0	0	0	1	0	0	15054	644	23	1	187	1	SPHK2	19	49129289	Nonsense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	8103884	49129289	9999694	72	2709											
SCAF1	58506	genome.wustl.edu	37	chr19	50150007	50150007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctggtggctgaggtccGaatcggggacagagatccca	17	9	0	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:50150007G>A	ENST00000360565.3	+	6	522	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	133					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCTGAGGTCCGAATCGGGGAC	0.662																																																	0								ENSG00000126461						53	37	43					19																	50150007		2202	4300	6502	SCAF1	SO:0001583	missense	0			-	HGNC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.398G>A	19.37:g.50150007G>A	ENSP00000353769:p.Arg133Gln	Somatic	0	40	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP							NULL	p.R133Q	ENST00000360565.3	37	c.398	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101316	0.37048	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.35048	1.33	4.56	3.38	0.38709	.	0.385199	0.19178	N	0.120748	T	0.13756	0.0333	N	0.08118	0	0.26353	N	0.977178	P	0.39624	0.681	B	0.27608	0.081	T	0.11616	-1.0580	10	0.87932	D	0	-3.8379	4.9912	0.14214	0.246:0.0:0.754:0.0	.	133	Q9H7N4	SFR19_HUMAN	Q	133	ENSP00000353769:R133Q	ENSP00000353769:R133Q	R	+	2	0	SCAF1	54841819	0.999000	0.42202	0.947000	0.38551	0.930000	0.56654	2.238000	0.43070	1.112000	0.41740	0.561000	0.74099	CGA	-	NULL		0.662	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	protein_coding	OTTHUMT00000465764.1	G	NM_021228	-		50150007	1	no_errors	ENST00000360565	ensembl	human	known	74_37	missense	SNP	0.909	A	A	50150007	G	A	50150007	3	1	45	1	0	0	0	0	1	0	0	0	13876	1058	37	1	416	1	SCAF1	19	50150007	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	1020718	50150007	8978976	73	2710											
SIGLEC12	89858	genome.wustl.edu	37	chr19	52002731	52002731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctggtcatggtcacgcCggccccaggcaaggtcacct	12	16	3	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:52002731C>T	ENST00000291707.3	-	3	1103	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G232S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	350	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGGTCACGCCGGCCCCAGGC	0.607																																																	0								ENSG00000254521						58	51	54					19																	52002731		2203	4300	6503	SIGLEC12	SO:0001583	missense	0			-	HGNC	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"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"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1048G>A	19.37:g.52002731C>T	ENSP00000291707:p.Gly350Ser	Somatic	0	60	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	Q8IYH7	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G350S	ENST00000291707.3	37	c.1048	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	.	11.84	1.757278	0.31137	.	.	ENSG00000254521	ENST00000291707	T	0.03413	3.94	2.22	-0.00567	0.14016	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.128570	0.06924	N	0.809949	T	0.07279	0.0184	L	0.42686	1.345	0.09310	N	1	D;P	0.60160	0.987;0.824	P;B	0.58820	0.846;0.373	T	0.40850	-0.9541	10	0.19590	T	0.45	.	3.8316	0.08876	0.0:0.5744:0.0:0.4256	.	350;232	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	S	350	ENSP00000291707:G350S	ENSP00000291707:G350S	G	-	1	0	SIGLEC12	56694543	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.825000	0.01707	0.271000	0.22005	0.503000	0.49774	GGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	protein_coding	OTTHUMT00000384641.2	C	NM_053003	-		52002731	-1	no_errors	ENST00000291707	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52002731	C	T	52002731	3	4	45	1	0	0	0	0	1	0	0	0	14316	652	23	1	763	1	SIGLEC12	19	52002731	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	1852724	52002731	7126252	74	2711											
PRKCG	5582	genome.wustl.edu	37	chr19	54403679	54403679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgtcctccaggttctaCgcggcagaaatcgctatcgg	10	15	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:54403679C>T	ENST00000263431.3	+	13	1662	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PRKCG_ENST00000542049.1_Silent_p.Y347Y|PRKCG_ENST00000540413.1_Silent_p.Y460Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	460	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)	CCAGGTTCTACGCGGCAGAAA	0.597																																																	0								ENSG00000126583						58	60	59					19																	54403679		2203	4300	6503	PRKCG	SO:0001819	synonymous_variant	0			-	HGNC	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.1380C>T	19.37:g.54403679C>T		Somatic	0	55	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	B7Z8Q0	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.Y460	ENST00000263431.3	37	c.1380	CCDS12867.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom		0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	protein_coding	OTTHUMT00000139233.3	C	NM_002739	-		54403679	1	no_errors	ENST00000540413	ensembl	human	known	74_37	silent	SNP	0.992	T	T	54403679	C	T	54403679	2	4	45	1	0	0	0	0	0	0	0	1	12517	547	19	1		1	PRKCG	19	54403679	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	2400948	54403679	4725304	75	2712											
CACNG6	59285	genome.wustl.edu	37	chr19	54515432	54515432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcccaagcgggggcacCgggccacctagagccacgcg	14	16	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:54515432C>T	ENST00000252729.2	+	4	1362	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	CACNG6_ENST00000352529.1_Missense_Mutation_p.R187W|CACNG6_ENST00000346968.2_Missense_Mutation_p.R212W	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	258					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCGGGGGCACCGGGCCACCTA	0.632																																																	0								ENSG00000130433						47	52	50					19																	54515432		2184	4263	6447	CACNG6	SO:0001583	missense	0			-	HGNC	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.772C>T	19.37:g.54515432C>T	ENSP00000252729:p.Arg258Trp	Somatic	0	44	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77		Missense_Mutation	SNP							prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.R258W	ENST00000252729.2	37	c.772	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275875	0.40294	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.33654	1.41;1.4;1.4	3.89	-7.79	0.01218	.	1.171100	0.06914	N	0.808131	T	0.17959	0.0431	N	0.22421	0.69	0.09310	N	1	P;P;D	0.56287	0.831;0.95;0.975	B;B;B	0.40565	0.219;0.261;0.333	T	0.28681	-1.0036	10	0.66056	D	0.02	-15.2504	4.0866	0.09950	0.2444:0.3259:0.3471:0.0826	.	187;212;258	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	W	258;187;212	ENSP00000252729:R258W;ENSP00000319135:R187W;ENSP00000319097:R212W	ENSP00000252729:R258W	R	+	1	2	CACNG6	59207244	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-2.454000	0.01004	-2.253000	0.00698	-0.155000	0.13514	CGG	-	NULL		0.632	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	protein_coding	OTTHUMT00000139359.1	C		-		54515432	1	no_errors	ENST00000252729	ensembl	human	known	74_37	missense	SNP	0.000	T	T	54515432	C	T	54515432	3	4	45	1	0	0	0	0	1	0	0	0	2563	643	23	1	786	1	CACNG6	19	54515432	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	111753	54515432	4613551	76	2713											
PEG3	5178	genome.wustl.edu	37	chr19	57329980	57329980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttaccgagggagagcaGcttcctgtagttttccatgt	11	10	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:57329980G>T	ENST00000326441.9	-	8	1123	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	PEG3_ENST00000598410.1_Missense_Mutation_p.L129M|PEG3_ENST00000423103.2_Missense_Mutation_p.L254M|PEG3_ENST00000593695.1_Missense_Mutation_p.L128M|ZIM2_ENST00000593711.1_Missense_Mutation_p.L129M|ZIM2_ENST00000391708.3_Missense_Mutation_p.L129M|ZIM2_ENST00000221722.5_Missense_Mutation_p.L129M|ZIM2_ENST00000599935.1_Missense_Mutation_p.L129M|ZIM2_ENST00000601070.1_Missense_Mutation_p.L129M	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	254					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGAGAGCAGCTTCCTGTAG	0.478																																																	0								ENSG00000198300						321	254	276					19																	57329980		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.760C>A	19.37:g.57329980G>T	ENSP00000326581:p.Leu254Met	Somatic	0	109	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	96	10.28	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L254M	ENST00000326441.9	37	c.760	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122607	0.56613	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.09163	3.01;3.01;3.06;3.06	4.0	4.0	0.46444	.	0.000000	0.34676	N	0.003780	T	0.18800	0.0451	L	0.27053	0.805	.	.	.	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.08576	-1.0715	9	0.44086	T	0.13	-16.1567	11.8956	0.52654	0.0:0.0:1.0:0.0	.	129;254;188;129	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	M	129;129;254;254;254	ENSP00000375589:L129M;ENSP00000221722:L129M;ENSP00000326581:L254M;ENSP00000403051:L254M	ENSP00000221722:L129M	L	-	1	2	ZIM2	62021792	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.596000	0.36718	2.532000	0.85374	0.557000	0.71058	CTG	-	NULL		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	G		-		57329980	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57329980	G	T	57329980	3	4	45	1	0	0	0	0	1	0	0	0	11722	962	34	3	4021	3	PEG3	19	57329980	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	2814548	57329980	1799003	77	2714											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58564938	58564938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcagagaatcagtccccGaaggagaaacaggaacactg	11	10	2	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:58564938G>A	ENST00000282326.1	+	6	993	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	249					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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCAGTCCCCGAAGGAGAAAC	0.607																																																	0								ENSG00000152467						60	63	62					19																	58564938		2203	4300	6503	ZSCAN1	SO:0001583	missense	0			-	HGNC	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.746G>A	19.37:g.58564938G>A	ENSP00000282326:p.Arg249Gln	Somatic	0	55	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R249Q	ENST00000282326.1	37	c.746	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972590	0.02215	.	.	ENSG00000152467	ENST00000282326	T	0.04706	3.57	1.14	-2.28	0.06826	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	0.999998	B	0.17667	0.023	B	0.04013	0.001	T	0.45366	-0.9266	9	0.16896	T	0.51	.	0.0561	0.00013	0.3205:0.2111:0.2246:0.2439	.	249	Q8NBB4	ZSCA1_HUMAN	Q	249	ENSP00000282326:R249Q	ENSP00000282326:R249Q	R	+	2	0	ZSCAN1	63256750	0.000000	0.05858	0.006000	0.13384	0.053000	0.15095	-1.232000	0.02936	-1.775000	0.01287	-0.339000	0.08088	CGA	-	NULL		0.607	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	protein_coding	OTTHUMT00000466427.1	G	NM_182572	-		58564938	1	no_errors	ENST00000282326	ensembl	human	known	74_37	missense	SNP	0.015	A	A	58564938	G	A	58564938	3	1	45	1	0	0	0	0	1	0	0	0	18233	1058	37	1	760	1	ZSCAN1	19	58564938	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	1234958	58564938	564045	78	2715											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3672652	3672652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcttgcacctgcagccGtagggcgtttcgggccacct	11	15	1	0	rs200539652		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:3672652G>A	ENST00000344754.4	-	16	4227	c.4228C>T	c.(4228-4230)Cgg>Tgg	p.R1410W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1410W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1410	Ig-like C2-type 14.				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)			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						ACCTGCAGCCGTAGGGCGTTT	0.602													G|||	1	0.000199681	0	0	5008	,	,		22240	0		0.001	False		,,,				2504	0																0								ENSG00000088827						55	42	46					20																	3672652		2203	4300	6503	SIGLEC1	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.4228C>T	20.37:g.3672652G>A	ENSP00000341141:p.Arg1410Trp	Somatic	0	80	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	60	11.59	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1410W	ENST00000344754.4	37	c.4228	CCDS13060.1	20	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.45|13.45	2.239977|2.239977	0.39598|0.39598	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.74947|.	-0.89;-0.89|.	5.5|5.5	1.17|1.17	0.20885|0.20885	Immunoglobulin-like fold (1);|.	0.279293|.	0.19258|.	N|.	0.118745|.	T|T	0.50548|0.50548	0.1622|0.1622	M|M	0.73962|0.73962	2.25|2.25	0.31455|0.31455	N|N	0.670265|0.670265	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.961|.	T|T	0.54296|0.54296	-0.8315|-0.8315	10|5	0.37606|.	T|.	0.19|.	.|.	4.4292|4.4292	0.11518|0.11518	0.1719:0.0:0.4818:0.3463|0.1719:0.0:0.4818:0.3463	.|.	1410;1410|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	W|M	1410|223	ENSP00000341141:R1410W;ENSP00000202578:R1410W|.	ENSP00000202578:R1410W|.	R|T	-|-	1|2	2|0	SIGLEC1|SIGLEC1	3620652|3620652	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.010000|0.010000	0.07245|0.07245	-0.200000|-0.200000	0.09478|0.09478	-0.003000|-0.003000	0.14444|0.14444	0.655000|0.655000	0.94253|0.94253	CGG|ACG	-	smart_Ig_sub,smart_Ig_sub2		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	protein_coding	OTTHUMT00000077761.2	G	NM_023068	rs200539652		3672652	-1	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	SNP	0.993	A	A	3672652	G	A	3672652	3	1	45	1	0	0	0	0	1	0	0	0	14313	1144	40	1	925	1	SIGLEC1	20	3672652	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09		3672652	59352868	79	2716											
PCSK2	5126	genome.wustl.edu	37	chr20	17434461	17434461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacgactgcaactgcgaCggctacgcctccagcatgtg	11	13	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:17434461C>T	ENST00000262545.2	+	9	1275	c.960C>T	c.(958-960)gaC>gaT	p.D320D	PCSK2_ENST00000377899.1_Silent_p.D301D|PCSK2_ENST00000536609.1_Silent_p.D285D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	320	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D320D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCAACTGCGACGGCTACGCCT	0.647																																																	1	Substitution - coding silent(1)	pancreas(1)						ENSG00000125851						124	92	103					20																	17434461		2203	4300	6503	PCSK2	SO:0001819	synonymous_variant	0			-	HGNC	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.960C>T	20.37:g.17434461C>T		Somatic	0	89	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	74	8.64	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D320	ENST00000262545.2	37	c.960	CCDS13125.1	20																																																																																			-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.647	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	protein_coding	OTTHUMT00000078120.2	C	NM_002594	-		17434461	1	no_errors	ENST00000262545	ensembl	human	known	74_37	silent	SNP	0.238	T	T	17434461	C	T	17434461	2	4	45	1	0	0	0	0	0	0	0	1	11603	535	19	1		1	PCSK2	20	17434461	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	13761809	17434461	45591059	80	2717											
SLC32A1	140679	genome.wustl.edu	37	chr20	37356570	37356570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctactgtctatcgcgggCgcgcgactgggcctgggaga	16	12	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:37356570C>T	ENST00000217420.1	+	2	1129	c.866C>T	c.(865-867)gCg>gTg	p.A289V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	289					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTATCGCGGGCGCGCGACTGG	0.527																																																	0								ENSG00000101438						75	57	63					20																	37356570		2203	4300	6503	SLC32A1	SO:0001583	missense	0			-	HGNC	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.866C>T	20.37:g.37356570C>T	ENSP00000217420:p.Ala289Val	Somatic	0	56	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	Q8N489	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.A289V	ENST00000217420.1	37	c.866	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776641	0.16120	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	L	0.42245	1.32	0.80722	D	1	P	0.42584	0.784	B	0.38458	0.274	T	0.61023	-0.7146	10	0.15499	T	0.54	-17.9732	15.5475	0.76118	0.0:1.0:0.0:0.0	.	289	Q9H598	VIAAT_HUMAN	V	289	ENSP00000217420:A289V	ENSP00000217420:A289V	A	+	2	0	SLC32A1	36789984	1.000000	0.71417	0.989000	0.46669	0.047000	0.14425	7.756000	0.85195	2.358000	0.79984	0.462000	0.41574	GCG	-	pfam_AA_transpt_TM		0.527	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	protein_coding	OTTHUMT00000079206.1	C	NM_080552	-		37356570	1	no_errors	ENST00000217420	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37356570	C	T	37356570	3	4	45	1	0	0	0	0	1	0	0	0	14573	768	27	1	872	1	SLC32A1	20	37356570	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	19922109	37356570	25668950	81	2718											
C20orf151	140893	genome.wustl.edu	37	chr20	60987919	60987919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtctcatccagttcGtcggactctggtctcagcac	10	13	4	0	rs568878182		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:60987919G>A	ENST00000252998.1	-	12	1869	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	571						extracellular space (GO:0005615)											CATCCAGTTCGTCGGACTCTG	0.657													g|||	1	0.000199681	0	0	5008	,	,		19048	0		0	False		,,,				2504	0.001																0								ENSG00000130701						130	107	115					20																	60987919		2203	4300	6503	RBBP8NL	SO:0001819	synonymous_variant	0			-	HGNC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1713C>T	20.37:g.60987919G>A		Somatic	0	134	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	81	29.57	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP							pfam_CtIP_N	p.D571	ENST00000252998.1	37	c.1713	CCDS13498.1	20																																																																																			-	NULL		0.657	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	protein_coding	OTTHUMT00000080029.1	G	NM_080833	-		60987919	-1	no_errors	ENST00000252998	ensembl	human	known	74_37	silent	SNP	0.000	A	A	60987919	G	A	60987919	2	1	45	1	0	0	0	0	0	0	0	1	2093	1136	40	1		1	C20orf151	20	60987919	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	23631349	60987919	2037601	82	2719											
DSCAM	1826	genome.wustl.edu	37	chr21	41385013	41385013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcctttcaaatggcccCgggagtcgagcagtgattct	11	10	2	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr21:41385013C>T	ENST00000400454.1	-	33	6464	c.5987G>A	c.(5986-5988)cGg>cAg	p.R1996Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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)				CAAATGGCCCCGGGAGTCGAG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						60	60	60					21																	41385013		1899	4124	6023	DSCAM	SO:0001583	missense	0			-	HGNC	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.5987G>A	21.37:g.41385013C>T	ENSP00000383303:p.Arg1996Gln	Somatic	0	28	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	O60468	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1996Q	ENST00000400454.1	37	c.5987	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036872	0.75617	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.70516	-0.36;-0.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.63843	1.955	0.44492	D	0.997432	D	0.69078	0.997	D	0.70227	0.968	D	0.84339	0.0526	10	0.87932	D	0	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	1996	O60469	DSCAM_HUMAN	Q	1996;1730	ENSP00000383303:R1996Q;ENSP00000385342:R1730Q	ENSP00000383303:R1996Q	R	-	2	0	DSCAM	40306883	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.262000	0.78410	2.521000	0.84997	0.557000	0.71058	CGG	-	NULL		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41385013	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41385013	C	T	41385013	3	4	45	1	0	0	0	0	1	0	0	0	4770	652	23	1	55	1	DSCAM	21	41385013	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		41385013	6744882	83	2720											
ITGB2	3689	genome.wustl.edu	37	chr21	46323418	46323418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggggtagcccttggcccGccggaaggtcacgttgaacg	16	11	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr21:46323418G>A	ENST00000397850.2	-	6	813	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	ITGB2_ENST00000397857.1_Missense_Mutation_p.R121W|ITGB2_ENST00000302347.5_Missense_Mutation_p.R121W|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121W|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121W|ITGB2_ENST00000397854.3_Intron			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCCTTGGCCCGCCGGAAGGTC	0.592																																																	0								ENSG00000160255						92	78	83					21																	46323418		2203	4300	6503	ITGB2	SO:0001583	missense	0			-	HGNC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.361C>T	21.37:g.46323418G>A	ENSP00000380948:p.Arg121Trp	Somatic	0	66	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	88	16.98	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R121W	ENST00000397850.2	37	c.361	CCDS13716.1	21	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247954	0.80024	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000320216;ENST00000523663;ENST00000522931	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.58	3.69	0.42338	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.95771	0.8624	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	D	0.95398	0.8487	9	0.87932	D	0	.	9.7832	0.40660	0.0:0.0:0.6252:0.3748	.	121	P05107	ITB2_HUMAN	W	121;121;121;121;121;112;121;121	ENSP00000380950:R121W;ENSP00000380955:R121W;ENSP00000347279:R121W;ENSP00000380948:R121W;ENSP00000303242:R121W;ENSP00000317697:R112W;ENSP00000428503:R121W;ENSP00000428979:R121W	ENSP00000303242:R121W	R	-	1	2	ITGB2	45147846	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.407000	0.59754	1.134000	0.42165	0.555000	0.69702	CGG	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.592	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	protein_coding	OTTHUMT00000206566.2	G	NM_000211	-		46323418	-1	no_errors	ENST00000302347	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46323418	G	A	46323418	3	1	45	1	0	0	0	0	1	0	0	0	7896	1086	38	1	1996	1	ITGB2	21	46323418	Missense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	4938405	46323418	1806477	84	2721											
FTCD	10841	genome.wustl.edu	37	chr21	47571484	47571484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcacctggtccttcccGcggccctgctcccgcaggtt	13	17	1	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr21:47571484G>A	ENST00000291670.5	-	5	667	c.624C>T	c.(622-624)cgC>cgT	p.R208R	FTCD_ENST00000355384.2_Silent_p.R208R|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Silent_p.R208R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Silent_p.R208R|FTCD_ENST00000397748.1_Silent_p.R208R|FTCD_ENST00000359679.2_Silent_p.R208R	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	208	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGTCCTTCCCGCGGCCCTGCT	0.652																																																	0								ENSG00000160282						60	64	63					21																	47571484		2203	4299	6502	FTCD	SO:0001819	synonymous_variant	0			-	HGNC	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.624C>T	21.37:g.47571484G>A		Somatic	0	73	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP							pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.R208	ENST00000291670.5	37	c.624	CCDS13731.1	21																																																																																			-	pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat		0.652	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	protein_coding	OTTHUMT00000206962.1	G	NM_006657	-		47571484	-1	no_errors	ENST00000359679	ensembl	human	known	74_37	silent	SNP	0.592	A	A	47571484	G	A	47571484	2	1	45	1	0	0	0	0	0	0	0	1	6083	1074	38	1		1	FTCD	21	47571484	Silent	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	1248066	47571484	558411	85	2722											
TUBGCP6	85378	genome.wustl.edu	37	chr22	50656429	50656429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtgctctgcaccccgCgggcccccagggggccccca	15	18	1	0			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr22:50656429C>T	ENST00000248846.5	-	24	5390	c.5286G>A	c.(5284-5286)ccG>ccA	p.P1762P	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1762					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)		CTGCACCCCGCGGGCCCCCAG	0.617																																																	0								ENSG00000128159						21	30	27					22																	50656429		2122	4171	6293	TUBGCP6	SO:0001819	synonymous_variant	0			-	HGNC	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.5286G>A	22.37:g.50656429C>T		Somatic	0	60	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP							pfam_TUBGCP	p.P1762	ENST00000248846.5	37	c.5286	CCDS14087.1	22																																																																																			-	NULL		0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	C	NM_020461	-		50656429	-1	no_errors	ENST00000248846	ensembl	human	known	74_37	silent	SNP	0.983	T	T	50656429	C	T	50656429	2	4	45	1	0	0	0	0	0	0	0	1	16777	755	27	1		1	TUBGCP6	22	50656429	Silent	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		50656429	648137	86	2723											
HDAC6	10013	genome.wustl.edu	37	chrX	48678568	48678568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgcacggggggatcCgctggggggctgccaggtgt	20	9	0	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:48678568C>T	ENST00000334136.5	+	23	2421	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	HDAC6_ENST00000376619.2_Missense_Mutation_p.P748L|HDAC6_ENST00000444343.2_Missense_Mutation_p.P762L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	748	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CGGGGGGATCCGCTGGGGGGC	0.577																																					Pancreas(112;205 1675 2305 8976 15959)												0								ENSG00000094631						65	58	60					X																	48678568		2203	4300	6503	HDAC6	SO:0001583	missense	0			-	HGNC	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2243C>T	X.37:g.48678568C>T	ENSP00000334061:p.Pro748Leu	Somatic	0	55	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP							pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.P762L	ENST00000334136.5	37	c.2285	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	c	30	5.052108	0.93793	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72282	-0.64;-0.64;-0.64	5.25	5.25	0.73442	Histone deacetylase domain (2);	0.055422	0.64402	D	0.000001	D	0.82935	0.5145	M	0.73319	2.225	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;0.999;1.0	D	0.84894	0.0838	10	0.87932	D	0	-24.5302	15.0357	0.71744	0.0:1.0:0.0:0.0	.	738;111;396;748	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	L	762;748;748;748	ENSP00000398566:P762L;ENSP00000334061:P748L;ENSP00000365804:P748L	ENSP00000334061:P748L	P	+	2	0	HDAC6	48563512	1.000000	0.71417	0.871000	0.34182	0.947000	0.59692	6.809000	0.75211	2.432000	0.82394	0.597000	0.82753	CCG	-	pfam_His_deacetylse_dom		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	protein_coding	OTTHUMT00000083394.2	C	NM_006044	-		48678568	1	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	SNP	0.999	T	T	48678568	C	T	48678568	3	4	45	1	0	0	0	0	1	0	0	0	7013	652	23	1	2329	1	HDAC6	23	48678568	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09		48678568	106591992	87	2724											
CACNA1F	778	genome.wustl.edu	37	chrX	49074970	49074970	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagtactcggagtactcGcagaatcttcaccaccgaga	9	14	2	2	rs122456134		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:49074970G>A	ENST00000376265.2	-	24	2966	c.2905C>T	c.(2905-2907)Cga>Tga	p.R969*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.R904*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R958*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	969					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGAGTACTCGCAGAATCTTC	0.647																																																	0			GRCh37	CM980292	CACNA1F	M	rs122456134	ENSG00000102001						39	35	36					X																	49074970		2197	4294	6491	CACNA1F	SO:0001587	stop_gained	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2905C>T	X.37:g.49074970G>A	ENSP00000365441:p.Arg969*	Somatic	0	43	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R969*	ENST00000376265.2	37	c.2905	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	41	8.741905	0.98935	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4577	0.61208	0.0:0.0:0.8219:0.1781	.	.	.	.	X	904;958;969	.	ENSP00000321618:R958X	R	-	1	2	CACNA1F	48961914	0.990000	0.36364	0.992000	0.48379	0.991000	0.79684	2.094000	0.41719	1.067000	0.40740	0.529000	0.55759	CGA	-	pfam_Ion_trans_dom		0.647	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	G	NM_005183	rs122456134		49074970	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	nonsense	SNP	0.989	A	A	49074970	G	A	49074970	4	1	45	1	0	0	0	0	0	1	0	0	2545	1095	38	1	3128	1	CACNA1F	23	49074970	Nonsense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	396402	49074970	106195590	88	2725											
KDM5C	8242	genome.wustl.edu	37	chrX	53246347	53246347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgcagtctcttggccCgccggccatagctgttgaac	12	14	1	1			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:53246347C>T	ENST00000375401.3	-	5	1167	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KDM5C_ENST00000452825.3_Missense_Mutation_p.R145Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R212Q|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Missense_Mutation_p.R211Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R171Q	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	212					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTCTTGGCCCGCCGGCCATA	0.532			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						122	89	100					X																	53246347		2203	4300	6503	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.635G>A	X.37:g.53246347C>T	ENSP00000364550:p.Arg212Gln	Somatic	0	19	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R212Q	ENST00000375401.3	37	c.635	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	32	5.160890	0.94727	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.89681	-2.55;-2.16;-2.16;-2.16;-2.39	5.47	5.47	0.80525	.	0.055068	0.64402	D	0.000001	D	0.94676	0.8283	M	0.85710	2.77	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.70016	0.967;0.922;0.922	D	0.95395	0.8485	10	0.87932	D	0	-21.267	15.6711	0.77274	0.0:1.0:0.0:0.0	.	145;211;212	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Q	145;212;211;212;171	ENSP00000445176:R145Q;ENSP00000364550:R212Q;ENSP00000385394:R211Q;ENSP00000364528:R212Q;ENSP00000364532:R171Q	ENSP00000364528:R212Q	R	-	2	0	KDM5C	53263072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.296000	0.77279	0.529000	0.55759	CGG	-	NULL		0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	C	NM_004187	-		53246347	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53246347	C	T	53246347	3	4	45	1	0	0	0	0	1	0	0	0	8137	652	23	1	4233	1	KDM5C	23	53246347	Missense_Mutation	SNP	C	TCGA-DX-A3M2-01A-21D-A228-09	4171377	53246347	102024213	89	2726											
ATRX	546	genome.wustl.edu	37	chrX	76875920	76875920	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatcctcctccttgatcGtatagaattcatagctttag	5	9	1	2			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:76875920G>A	ENST00000373344.5	-	20	5429	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1739*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCCTTGATCGTATAGAATTC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Nonsense(1)|Unknown(1)	central_nervous_system(1)|bone(1)						ENSG00000085224						78	65	70					X																	76875920		2202	4293	6495	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5215C>T	X.37:g.76875920G>A	ENSP00000362441:p.Arg1739*	Somatic	0	50	0		0.460069410890431				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	46	41.03	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1739*	ENST00000373344.5	37	c.5215	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.267367	0.95399	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	4.57	3.61	0.41365	.	0.171135	0.37623	N	0.002005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.805	11.8455	0.52381	0.0:0.0:0.4784:0.5215	.	.	.	.	X	1739;1701	.	ENSP00000362441:R1739X	R	-	1	2	ATRX	76762576	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.134000	0.42102	0.560000	0.29169	0.600000	0.82982	CGA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76875920	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	76875920	G	A	76875920	4	1	45	1	0	0	0	0	0	1	0	0	1208	1153	40	1	2327	1	ATRX	23	76875920	Nonsense_Mutation	SNP	G	TCGA-DX-A3M2-01A-21D-A228-09	23629573	76875920	78394640	90	2727											
PIK3CD	5293	genome.wustl.edu	37	chr1	9783348	9783348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaagtccaagaacccGgggtgggtttcaggcccagg	16	10	1	2	rs201426574		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr1:9783348G>A	ENST00000377346.4	+	20	2787	c.2592G>A	c.(2590-2592)ccG>ccA	p.P864P	PIK3CD_ENST00000361110.2_Silent_p.P888P|PIK3CD_ENST00000536656.1_Silent_p.P888P	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	864	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCAAGAACCCGGGGTGGGTTT	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		17932	0		0	False		,,,				2504	0																0								ENSG00000171608						60	69	66					1																	9783348		2203	4300	6503	PIK3CD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2592G>A	1.37:g.9783348G>A		Somatic	0	60	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	43	34.85	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	33	0	0	38	28.30	15	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P888	ENST00000377346.4	37	c.2664	CCDS104.1	1																																																																																			-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.592	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	protein_coding	OTTHUMT00000004235.1	G	NM_005026	rs201426574		9783348	1	no_errors	ENST00000536656	ensembl	human	known	74_37	silent	SNP	0.206	A	A	9783348	G	A	9783348	2	1	46	1	0	0	0	0	0	0	0	1	11917	1103	39	1		1	PIK3CD	1	9783348	Silent	SNP	G	TCGA-DX-A3U5-01A-11D-A228-09		9783348	239467273	1	2728											
ACADL	33	genome.wustl.edu	37	chr2	211069371	211069371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtagggcactagctggCaaccgtatatcttcaaagaa	9	10	2	1			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:211069371C>G	ENST00000233710.3	-	7	1031	c.804G>C	c.(802-804)ttG>ttC	p.L268F	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	268					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CACTAGCTGGCAACCGTATAT	0.378																																																	0								ENSG00000115361						127	127	127					2																	211069371		2203	4300	6503	ACADL	SO:0001583	missense	0			-	HGNC	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.804G>C	2.37:g.211069371C>G	ENSP00000233710:p.Leu268Phe	Somatic	0	50	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B2R8T3|Q8IUN8	Missense_Mutation	SNP	44	0	0	46	18.97	11	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L268F	ENST00000233710.3	37	c.804	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498131	0.64186	.	.	ENSG00000115361	ENST00000233710	D	0.99005	-5.32	5.22	3.42	0.39159	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.133960	0.46145	D	0.000313	D	0.98614	0.9536	M	0.81341	2.54	0.49130	D	0.999757	D	0.55172	0.97	P	0.54270	0.747	D	0.97942	1.0326	10	0.87932	D	0	.	6.8631	0.24077	0.1403:0.7129:0.0:0.1468	.	268	P28330	ACADL_HUMAN	F	268	ENSP00000233710:L268F	ENSP00000233710:L268F	L	-	3	2	ACADL	210777616	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.962000	0.29280	0.596000	0.29794	0.579000	0.79373	TTG	-	superfamily_AcylCoA_DH/oxidase_NM_dom		0.378	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	protein_coding	OTTHUMT00000256561.2	C	NM_001608	-		211069371	-1	no_errors	ENST00000233710	ensembl	human	known	74_37	missense	SNP	1.000	G	G	211069371	C	G	211069371	3	3	46	1	0	0	0	0	1	0	0	0	112	709	25	4	508	4	ACADL	2	211069371	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		211069371	32130002	2	2729											
CAB39	51719	genome.wustl.edu	37	chr2	231683327	231683340	+	Frame_Shift_Del	DEL	GACAGGACGGAGGA	GACAGGACGGAGGA	-													tcctcagcaagtttcagaacGacaggacggaggatgagcag					rs146755738|rs146490647	byFrequency	TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	GACAGGACGGAGGA	GACAGGACGGAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:231683327_231683340delGACAGGACGGAGGA	ENST00000258418.5	+	9	1363_1376	c.934_947delGACAGGACGGAGGA	c.(934-948)gacaggacggaggatfs	p.DRTED312fs	CAB39_ENST00000410084.3_Frame_Shift_Del_p.DRTED312fs|CAB39_ENST00000409788.3_Frame_Shift_Del_p.DRTED312fs	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	312					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|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 protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GTTTCAGAACGACAGGACGGAGGATGAGCAGTTT	0.449																																																	0								ENSG00000135932																																			CAB39	SO:0001589	frameshift_variant	0				HGNC	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.934_947delGACAGGACGGAGGA	2.37:g.231683327_231683340delGACAGGACGGAGGA	ENSP00000258418:p.Asp312fs	Somatic					0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K8L7	Frame_Shift_Del	DEL	34	0	0	18	33.33	9	pfam_Mo25,superfamily_ARM-type_fold	p.D312fs	ENST00000258418.5	37	c.934_947	CCDS2478.1	2																																																																																			-	pfam_Mo25,superfamily_ARM-type_fold		0.449	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	protein_coding	OTTHUMT00000256955.2	GACAGGACGGAGGA	NM_016289			231683340	1	no_errors	ENST00000258418	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:1.000:1.000:1.000:1.000:1.000	-	-	231683340	GACAGGACGGAGGA	-	231683327	7	5	46	1	0	1	0	1	0	0	0	0	2527	1058	37	0	964	0	CAB39	2	231683327	Frame_Shift_Del	DEL	GACAGGACGGAGGA	TCGA-DX-A3U5-01A-11D-A228-09	20613956	231683327	11516046	3	2730			1	38		2	2	16	N	GAGCAGTTTA_GACAGGACGGAGGA	1.114451e-05
CAB39	51719	genome.wustl.edu	37	chr2	231683342	231683351	+	Frame_Shift_Del	DEL	GAGCAGTTTA	GAGCAGTTTA	-													agaacgacaggacggaggatGagcagtttaacgacgagaag							TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	GAGCAGTTTA	GAGCAGTTTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:231683342_231683351delGAGCAGTTTA	ENST00000258418.5	+	9	1378_1387	c.949_958delGAGCAGTTTA	c.(949-960)gagcagtttaacfs	p.EQFN317fs	CAB39_ENST00000410084.3_Frame_Shift_Del_p.EQFN317fs|CAB39_ENST00000409788.3_Frame_Shift_Del_p.EQFN317fs	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	317					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|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 protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GACGGAGGATGAGCAGTTTAACGACGAGAA	0.429																																																	0								ENSG00000135932																																			CAB39	SO:0001589	frameshift_variant	0				HGNC	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.949_958delGAGCAGTTTA	2.37:g.231683342_231683351delGAGCAGTTTA	ENSP00000258418:p.Glu317fs	Somatic					0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K8L7	Frame_Shift_Del	DEL	30	0	0	12	42.86	9	pfam_Mo25,superfamily_ARM-type_fold	p.E317fs	ENST00000258418.5	37	c.949_958	CCDS2478.1	2																																																																																			-	pfam_Mo25,superfamily_ARM-type_fold		0.429	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	protein_coding	OTTHUMT00000256955.2	GAGCAGTTTA	NM_016289			231683351	1	no_errors	ENST00000258418	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000	-	-	231683351	GAGCAGTTTA	-	231683342	7	5	46	1	0	1	0	1	0	0	0	0	2527	1291	45	0	979	0	CAB39	2	231683342	Frame_Shift_Del	DEL	GAGCAGTTTA	TCGA-DX-A3U5-01A-11D-A228-09	15	231683342	11516031	4	2731			1	38		2	2	16	N	GAGCAGTTTA_GACAGGACGGAGGA	1.114451e-05
UGT1A4	54657	genome.wustl.edu	37	chr2	234627744	234627744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaatttgatcgcgttaCgctgggctacactcaagggt	13	8	1	1	rs188914242		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:234627744C>T	ENST00000373409.3	+	1	321	c.278C>T	c.(277-279)aCg>aTg	p.T93M	UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	93					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GATCGCGTTACGCTGGGCTAC	0.433													T|||	1	0.000199681	0	0.0014	5008	,	,		24604	0		0	False		,,,				2504	0				Melanoma(99;1011 1962 13201 26492)												0								ENSG00000244474						94	95	94					2																	234627744		2203	4300	6503	UGT1A4	SO:0001583	missense	0			GMAF=0.0005	HGNC	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.278C>T	2.37:g.234627744C>T	ENSP00000362508:p.Thr93Met	Somatic	0	50	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	23	48.89	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	29	0	0	19	36.67	11	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T93M	ENST00000373409.3	37	c.278	CCDS33405.1	2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	2.733	-0.263921	0.05754	.	.	ENSG00000244474	ENST00000373409	T	0.59502	0.26	3.84	2.66	0.31614	.	.	.	.	.	T	0.29652	0.0740	N	0.01624	-0.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.0;0.005	T	0.21449	-1.0245	9	0.34782	T	0.22	.	10.8412	0.46718	0.0:0.0869:0.0:0.9131	.	93;93	B8K288;P22310	.;UD14_HUMAN	M	93	ENSP00000362508:T93M	ENSP00000362508:T93M	T	+	2	0	UGT1A4	234292483	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.072000	0.14617	0.053000	0.16036	-1.853000	0.00566	ACG	-	pfam_UDP_glucos_trans		0.433	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	protein_coding	OTTHUMT00000130984.1	C	NM_007120	rs188914242		234627744	1	no_errors	ENST00000373409	ensembl	human	known	74_37	missense	SNP	0.000	T	T	234627744	C	T	234627744	3	4	46	1	0	0	0	0	1	0	0	0	16954	536	19	1	280	1	UGT1A4	2	234627744	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09	2944402	234627744	8571629	5	2732											
CADPS	8618	genome.wustl.edu	37	chr3	62467517	62467517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggttcacattgggtaggttCacattgggtaggttactggt	14	5	2	0			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr3:62467517C>T	ENST00000383710.4	-	22	3403	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1018	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)		TGGGTAGGTTCACATTGGGTA	0.448																																																	0								ENSG00000163618						237	223	228					3																	62467517		1899	4125	6024	CADPS	SO:0001819	synonymous_variant	0			-	HGNC	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.3054G>A	3.37:g.62467517C>T		Somatic	0	92	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	50	29.58	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	39	0	0	21	36.36	12	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V1018	ENST00000383710.4	37	c.3054	CCDS46858.1	3																																																																																			-	NULL		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394	-		62467517	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	silent	SNP	1.000	T	T	62467517	C	T	62467517	2	4	46	1	0	0	0	0	0	0	0	1	2572	813	29	2		2	CADPS	3	62467517	Silent	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		62467517	135554913	6	2733											
TOPBP1	11073	genome.wustl.edu	37	chr3	133329919	133329919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaagtgctagtcttcGttgctgtacattgattccag	10	9	1	1			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr3:133329919G>C	ENST00000260810.5	-	25	4233	c.4102C>G	c.(4102-4104)Cga>Gga	p.R1368G		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1368					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTAGTCTTCGTTGCTGTACA	0.373								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0								ENSG00000163781						212	204	207					3																	133329919		1895	4110	6005	TOPBP1	SO:0001583	missense	0			-	HGNC	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4102C>G	3.37:g.133329919G>C	ENSP00000260810:p.Arg1368Gly	Somatic	0	62	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	36	0	0	47	24.19	15	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.R1368G	ENST00000260810.5	37	c.4102	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180134	0.57800	.	.	ENSG00000163781	ENST00000260810	T	0.59083	0.29	5.27	3.25	0.37280	BRCT (1);	0.259797	0.41294	D	0.000903	T	0.48205	0.1487	L	0.47716	1.5	0.34333	D	0.687912	P	0.52316	0.952	B	0.41571	0.36	T	0.61700	-0.7009	10	0.34782	T	0.22	.	11.6316	0.51178	0.0:0.0:0.3888:0.6112	.	1368	Q92547	TOPB1_HUMAN	G	1368	ENSP00000260810:R1368G	ENSP00000260810:R1368G	R	-	1	2	TOPBP1	134812609	0.232000	0.23762	0.973000	0.42090	0.930000	0.56654	3.005000	0.49521	1.195000	0.43115	-0.293000	0.09583	CGA	-	superfamily_BRCT_dom		0.373	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	protein_coding	OTTHUMT00000357254.1	G	NM_007027	-		133329919	-1	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	SNP	0.991	C	C	133329919	G	C	133329919	3	2	46	1	0	0	0	0	1	0	0	0	16376	1153	40	4	482	4	TOPBP1	3	133329919	Missense_Mutation	SNP	G	TCGA-DX-A3U5-01A-11D-A228-09	70862402	133329919	64692511	7	2734											
F11	2160	genome.wustl.edu	37	chr4	187195304	187195304	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttatgtggacctagacatGaagggcataaactataacag	9	6	0	2			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr4:187195304G>T	ENST00000403665.2	+	5	712	c.360G>T	c.(358-360)atG>atT	p.M120I	F11_ENST00000492972.2_Missense_Mutation_p.M120I|F11_ENST00000264692.4_Intron	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	120	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ACCTAGACATGAAGGGCATAA	0.448																																																	0								ENSG00000088926						172	146	155					4																	187195304		2203	4300	6503	F11	SO:0001583	missense	0			-	HGNC	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.360G>T	4.37:g.187195304G>T	ENSP00000384957:p.Met120Ile	Somatic	0	21	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	32	0	0	55	0.00	0	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.M120I	ENST00000403665.2	37	c.360	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496836	0.26861	.	.	ENSG00000088926	ENST00000403665;ENST00000492972	D;D	0.88509	-2.39;-1.54	5.87	5.04	0.67666	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	M	0.65320	2	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.84655	0.0703	10	0.62326	D	0.03	.	14.8897	0.70600	0.0693:0.0:0.9306:0.0	.	120	P03951	FA11_HUMAN	I	120	ENSP00000384957:M120I;ENSP00000424479:M120I	ENSP00000384957:M120I	M	+	3	0	F11	187432298	1.000000	0.71417	0.993000	0.49108	0.069000	0.16628	4.692000	0.61746	1.499000	0.48617	-0.137000	0.14449	ATG	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.448	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	protein_coding	OTTHUMT00000317519.4	G		-		187195304	1	no_errors	ENST00000403665	ensembl	human	known	74_37	missense	SNP	0.994	T	T	187195304	G	T	187195304	3	4	46	1	0	0	0	0	1	0	0	0	5339	1290	45	3	374	3	F11	4	187195304	Missense_Mutation	SNP	G	TCGA-DX-A3U5-01A-11D-A228-09		187195304	3958972	8	2735											
RAD50	10111	genome.wustl.edu	37	chr5	131927684	131927684	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agactggctacatagtaaatCaaaagaaattaatcagacca	6	7	2	3			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr5:131927684C>T	ENST00000265335.6	+	11	2138	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	RAD50_ENST00000378823.3_Missense_Mutation_p.S445L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	584					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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATAGTAAATCAAAAGAAATT	0.338								Homologous recombination																																									0								ENSG00000113522						88	95	93					5																	131927684		2203	4299	6502	RAD50	SO:0001583	missense	0			-	HGNC	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1751C>T	5.37:g.131927684C>T	ENSP00000265335:p.Ser584Leu	Somatic	0	34	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	33	2.94	1	47	36.49	27	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.S584L	ENST00000265335.6	37	c.1751	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778434	0.49786	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07021	3.49;3.7;3.23	6.06	5.19	0.71726	.	0.250332	0.41001	D	0.000961	T	0.07279	0.0184	L	0.51422	1.61	0.46011	D	0.998813	B	0.13145	0.007	B	0.04013	0.001	T	0.32134	-0.9918	10	0.23302	T	0.38	-0.916	3.4209	0.07393	0.1272:0.4982:0.2358:0.1389	.	584	Q92878	RAD50_HUMAN	L	445;584;523	ENSP00000368100:S445L;ENSP00000265335:S584L;ENSP00000400049:S523L	ENSP00000265335:S584L	S	+	2	0	RAD50	131955583	0.967000	0.33354	1.000000	0.80357	0.998000	0.95712	2.278000	0.43426	1.584000	0.49913	0.655000	0.94253	TCA	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes		0.338	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	protein_coding	OTTHUMT00000132566.5	C	NM_005732	-		131927684	1	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	SNP	0.853	T	T	131927684	C	T	131927684	3	4	46	1	0	0	0	0	1	0	0	0	12992	838	29	2	1793	2	RAD50	5	131927684	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		131927684	48987576	9	2736											
CYB5R4	51167	genome.wustl.edu	37	chr6	84665137	84665137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggacaaatccaaagttctCgtctgcatttgtggaccagt	9	9	2	0			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr6:84665137C>T	ENST00000369681.5	+	15	1607	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	489					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCAAAGTTCTCGTCTGCATTT	0.403																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)												0								ENSG00000065615						82	80	81					6																	84665137		2203	4300	6503	CYB5R4	SO:0001819	synonymous_variant	0			-	HGNC	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1467C>T	6.37:g.84665137C>T		Somatic	0	33	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	32	0	0	29	35.56	16	pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd	p.L489	ENST00000369681.5	37	c.1467	CCDS5000.2	6																																																																																			-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase		0.403	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	protein_coding	OTTHUMT00000041362.4	C	NM_016230	-		84665137	1	no_errors	ENST00000369681	ensembl	human	known	74_37	silent	SNP	0.969	T	T	84665137	C	T	84665137	2	4	46	1	0	0	0	0	0	0	0	1	4131	871	31	1		1	CYB5R4	6	84665137	Silent	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		84665137	86449930	10	2737											
MUC17	140453	genome.wustl.edu	37	chr7	100682064	100682064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcctagtgaaggaaccaCtccgttagcaagtatgcctg	9	12	0	1			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr7:100682064C>A	ENST00000306151.4	+	3	7431	c.7367C>A	c.(7366-7368)aCt>aAt	p.T2456N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2456	59 X approximate tandem repeats.|Ser-rich.				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)					GAAGGAACCACTCCGTTAGCA	0.537																																																	0								ENSG00000169876						348	341	343					7																	100682064		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.7367C>A	7.37:g.100682064C>A	ENSP00000302716:p.Thr2456Asn	Somatic	0	106	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	65	26.14	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	45	0	0	40	25.93	14	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T2456N	ENST00000306151.4	37	c.7367	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	3.047	-0.196243	0.06259	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.25	-2.5	0.06384	.	.	.	.	.	T	0.01661	0.0053	L	0.34521	1.04	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.38112	-0.9676	9	0.35671	T	0.21	.	4.5512	0.12114	0.2288:0.3161:0.4551:0.0	.	2456	Q685J3	MUC17_HUMAN	N	2456	ENSP00000302716:T2456N	ENSP00000302716:T2456N	T	+	2	0	MUC17	100468784	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.084000	0.30828	-1.780000	0.01279	-1.285000	0.01374	ACT	-	NULL		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100682064	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	A	A	100682064	C	A	100682064	3	1	46	1	0	0	0	0	1	0	0	0	9976	565	20	3	7377	3	MUC17	7	100682064	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		100682064	58456599	11	2738											
TTPA	7274	genome.wustl.edu	37	chr8	63978639	63978639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtcataagctgtaaaaaCtttggggtcccagtgtgcta	10	8	1	0	rs138483857		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr8:63978639C>T	ENST00000260116.4	-	3	407	c.376G>A	c.(376-378)Gtt>Att	p.V126I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	126	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GCTGTAAAAACTTTGGGGTCC	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		17750	0		0	False		,,,				2504	0																0								ENSG00000137561	C	ILE/VAL	5,4401	6.2+/-15.9	0,5,2198	51	48	49		376	2.6	1	8	dbSNP_134	49	0,8600		0,0,4300	no	missense	TTPA	NM_000370.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	126/279	63978639	5,13001	2203	4300	6503	TTPA	SO:0001583	missense	0			-	HGNC	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.376G>A	8.37:g.63978639C>T	ENSP00000260116:p.Val126Ile	Somatic	0	119	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	87	29.27	Q71V64	Missense_Mutation	SNP	38	0	0	35	33.96	18	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.V126I	ENST00000260116.4	37	c.376	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883837	0.33255	0.001135	0.0	ENSG00000137561	ENST00000260116	T	0.75367	-0.93	5.54	2.6	0.31112	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.465045	0.23780	N	0.044623	T	0.49795	0.1578	N	0.16201	0.385	0.27447	N	0.953548	B	0.02656	0.0	B	0.04013	0.001	T	0.28839	-1.0031	10	0.40728	T	0.16	.	1.7941	0.03058	0.2286:0.4464:0.1122:0.2128	.	126	P49638	TTPA_HUMAN	I	126	ENSP00000260116:V126I	ENSP00000260116:V126I	V	-	1	0	TTPA	64141193	0.792000	0.28813	1.000000	0.80357	0.998000	0.95712	0.557000	0.23454	1.326000	0.45319	0.655000	0.94253	GTT	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.353	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	protein_coding	OTTHUMT00000378460.1	C	NM_000370	rs138483857		63978639	-1	no_errors	ENST00000260116	ensembl	human	known	74_37	missense	SNP	0.989	T	T	63978639	C	T	63978639	3	4	46	1	0	0	0	0	1	0	0	0	16743	565	20	2	472	2	TTPA	8	63978639	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		63978639	82385383	12	2739											
RLN1	6013	genome.wustl.edu	37	chr9	5335273	5335273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaatatttagcaagagacCttttggtacaaccaattagg	8	7	0	1			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr9:5335273C>G	ENST00000223862.1	-	2	662	c.536G>C	c.(535-537)aGg>aCg	p.R179T	RLN1_ENST00000487557.2_5'UTR|RLN1_ENST00000223858.4_3'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	179					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AGCAAGAGACCTTTTGGTACA	0.378																																																	0								ENSG00000107018						81	77	78					9																	5335273		2203	4300	6503	RLN1	SO:0001583	missense	0			-	HGNC		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.536G>C	9.37:g.5335273C>G	ENSP00000223862:p.Arg179Thr	Somatic	0	55	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	25.49	Q99936|Q9UQJ1	Missense_Mutation	SNP	38	0	0	33	35.29	18	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.R179T	ENST00000223862.1	37	c.536	CCDS6462.1	9	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720927	0.15372	.	.	ENSG00000107018	ENST00000223862	D	0.84660	-1.88	2.62	-1.08	0.09936	Insulin, conserved site (1);Insulin-like (4);	1.181470	0.06326	N	0.705301	D	0.83613	0.5292	L	0.45228	1.405	0.09310	N	1	P	0.41008	0.735	P	0.48704	0.587	T	0.72743	-0.4201	10	0.62326	D	0.03	.	6.2598	0.20893	0.0:0.6337:0.0:0.3663	.	179	P04808	REL1_HUMAN	T	179	ENSP00000223862:R179T	ENSP00000223862:R179T	R	-	2	0	RLN1	5325273	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.720000	0.04969	-0.183000	0.10585	0.388000	0.25769	AGG	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family		0.378	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	protein_coding	OTTHUMT00000051617.1	C		-		5335273	-1	no_errors	ENST00000223862	ensembl	human	known	74_37	missense	SNP	0.000	G	G	5335273	C	G	5335273	3	3	46	1	0	0	0	0	1	0	0	0	13399	681	24	4	25	4	RLN1	9	5335273	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		5335273	135878158	13	2740											
OR13A1	79290	genome.wustl.edu	37	chr10	45799842	45799842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggacgggtttctgggactAtcaggtgactctccatccac	12	11	3	1			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr10:45799842A>C	ENST00000553795.1	-	4	337	c.29T>G	c.(28-30)aTa>aGa	p.I10R	OR13A1_ENST00000536058.1_Missense_Mutation_p.I10R|OR13A1_ENST00000374401.2_Missense_Mutation_p.I10R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TTCTGGGACTATCAGGTGACT	0.527																																																	0								ENSG00000256574						69	76	73					10																	45799842		2187	4300	6487	OR13A1	SO:0001583	missense	0			-	HGNC	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.29T>G	10.37:g.45799842A>C	ENSP00000451950:p.Ile10Arg	Somatic	0	38	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	31	0	0	37	31.48	17	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I10R	ENST00000553795.1	37	c.29	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	a	9.158	1.018047	0.19355	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.11495	2.77;2.77;2.77	3.83	0.12	0.14691	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	9	0.62326	D	0.03	-0.1472	3.7867	0.08703	0.4823:0.1973:0.3203:0.0	.	10	Q8NGR1	O13A1_HUMAN	R	10	ENSP00000451950:I10R;ENSP00000438657:I10R;ENSP00000363522:I10R	ENSP00000311379:I10R	I	-	2	0	OR13A1	45119848	0.031000	0.19500	0.000000	0.03702	0.052000	0.14988	0.892000	0.28322	0.008000	0.14787	0.529000	0.55759	ATA	-	NULL		0.527	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	protein_coding	OTTHUMT00000047779.2	A	NM_001004297	-		45799842	-1	no_errors	ENST00000374401	ensembl	human	known	74_37	missense	SNP	0.000	C	C	45799842	A	C	45799842	3	2	46	1	0	0	0	0	1	0	0	0	10935	449	16	5	961	5	OR13A1	10	45799842	Missense_Mutation	SNP	A	TCGA-DX-A3U5-01A-11D-A228-09		45799842	89734905	14	2741											
REEP3	221035	genome.wustl.edu	37	chr10	65380613	65380613	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacaaagtgaagaaacgacCacaagtgtatttttagtcat	7	6	1	2			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr10:65380613C>G	ENST00000373758.4	+	8	935	c.752C>G	c.(751-753)cCa>cGa	p.P251R	REEP3_ENST00000298249.4_Missense_Mutation_p.P236R	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	251					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGAAACGACCACAAGTGTAT	0.318																																																	0								ENSG00000165476						86	78	81					10																	65380613		1831	4078	5909	REEP3	SO:0001583	missense	0			-	HGNC	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"Receptor accessory proteins"	23711	protein-coding gene	gene with protein product		609348	"chromosome 10 open reading frame 74"	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.752C>G	10.37:g.65380613C>G	ENSP00000362863:p.Pro251Arg	Somatic	0	32	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	36	0	0	35	27.08	13	pfam_TB2_DP1_HVA22	p.P251R	ENST00000373758.4	37	c.752	CCDS44411.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457180	0.84317	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.85339	-1.97;-1.96	5.89	5.89	0.94794	.	0.052819	0.85682	D	0.000000	D	0.89674	0.6783	L	0.55481	1.735	0.58432	D	0.999997	D	0.71674	0.998	P	0.60682	0.878	D	0.90030	0.4134	10	0.72032	D	0.01	.	17.1793	0.86850	0.0:1.0:0.0:0.0	.	251	Q6NUK4	REEP3_HUMAN	R	251;236;253	ENSP00000362863:P251R;ENSP00000298249:P236R	ENSP00000298249:P236R	P	+	2	0	REEP3	65050619	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.198000	0.58419	2.782000	0.95742	0.557000	0.71058	CCA	-	NULL		0.318	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP3	protein_coding		C	NM_001001330	-		65380613	1	no_errors	ENST00000373758	ensembl	human	known	74_37	missense	SNP	1.000	G	G	65380613	C	G	65380613	3	3	46	1	0	0	0	0	1	0	0	0	13214	594	21	4	782	4	REEP3	10	65380613	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09	19580771	65380613	70154134	15	2742											
HEPHL1	341208	genome.wustl.edu	37	chr11	93796822	93796822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgggtgtaccattcGcacatcgacgccccaaagga	10	14	0	1	rs375814141		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr11:93796822G>A	ENST00000315765.9	+	3	572	c.564G>A	c.(562-564)tcG>tcA	p.S188S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	188	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S189S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTACCATTCGCACATCGACG	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000181333	G		0,3958		0,0,1979	110	109	109		564	-10.8	0.7	11		109	1,8325		0,1,4162	no	coding-synonymous	HEPHL1	NM_001098672.1		0,1,6141	AA,AG,GG		0.012,0.0,0.0081		188/1160	93796822	1,12283	1979	4163	6142	HEPHL1	SO:0001819	synonymous_variant	0			-	HGNC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.564G>A	11.37:g.93796822G>A		Somatic	0	64	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	Q3C1W7	Silent	SNP	35	0	0	22	37.14	13	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S188	ENST00000315765.9	37	c.564	CCDS44710.1	11																																																																																			-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	G	XM_291947	-		93796822	1	no_errors	ENST00000315765	ensembl	human	known	74_37	silent	SNP	0.081	A	A	93796822	G	A	93796822	2	1	46	1	0	0	0	0	0	0	0	1	7057	1074	38	1		1	HEPHL1	11	93796822	Silent	SNP	G	TCGA-DX-A3U5-01A-11D-A228-09		93796822	41209694	16	2743											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43821142	43821142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtagttccactgtggaCaaggccctggaccacattgc	10	13	0	0			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr12:43821142C>T	ENST00000389420.3	-	27	4075	c.4076G>A	c.(4075-4077)tGt>tAt	p.C1359Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1359Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C477Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1359	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACTGTGGACAAGGCCCTGG	0.438																																																	0								ENSG00000173157						109	88	96					12																	43821142		2203	4300	6503	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4076G>A	12.37:g.43821142C>T	ENSP00000374071:p.Cys1359Tyr	Somatic	0	65	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	A6NNC9|J3QT00	Missense_Mutation	SNP	31	0	0	28	30.00	12	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C1359Y	ENST00000389420.3	37	c.4076	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209795	0.79240	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12	4.94	4.94	0.65067	.	0.000000	0.56097	D	0.000026	D	0.99542	0.9836	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.992	D	0.97804	1.0246	10	0.87932	D	0	.	19.0406	0.92997	0.0:1.0:0.0:0.0	.	1359;477	P59510;E9PBD5	ATS20_HUMAN;.	Y	1359;489;477;1359;1359	ENSP00000374071:C1359Y;ENSP00000447427:C489Y;ENSP00000378911:C477Y;ENSP00000448341:C1359Y	ENSP00000374068:C1359Y	C	-	2	0	ADAMTS20	42107409	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.409000	0.80053	2.670000	0.90874	0.650000	0.86243	TGT	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.438	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43821142	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43821142	C	T	43821142	3	4	46	1	0	0	0	0	1	0	0	0	266	478	17	2	1707	2	ADAMTS20	12	43821142	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		43821142	90030753	17	2744											
MYO16	23026	genome.wustl.edu	37	chr13	109535494	109535494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggagagagcctttcacCagctcttccgggaacagcgg	14	11	2	1			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr13:109535494C>A	ENST00000357550.2	+	12	1488	c.1447C>A	c.(1447-1449)Cag>Aag	p.Q483K	MYO16_ENST00000251041.5_Missense_Mutation_p.Q483K|MYO16_ENST00000356711.2_Missense_Mutation_p.Q483K	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)			AGCCTTTCACCAGCTCTTCCG	0.572																																																	0								ENSG00000041515						152	137	142					13																	109535494		2203	4300	6503	MYO16	SO:0001583	missense	0			-	HGNC		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.1447C>A	13.37:g.109535494C>A	ENSP00000350160:p.Gln483Lys	Somatic	0	60	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57		Missense_Mutation	SNP	35	0	0	28	22.22	8	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q483K	ENST00000357550.2	37	c.1447	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298435	0.05532	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.86865	-2.18;-2.18;-2.18	5.34	3.24	0.37175	Myosin head, motor domain (2);	2.761340	0.02679	U	0.109412	T	0.80363	0.4609	L	0.28115	0.83	0.80722	D	1	B;P	0.35527	0.307;0.507	B;B	0.30716	0.046;0.119	T	0.65010	-0.6272	9	.	.	.	.	9.9096	0.41397	0.4628:0.5371:0.0:0.0	.	483;483	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	483;483;483;483;271	ENSP00000349145:Q483K;ENSP00000350160:Q483K;ENSP00000251041:Q483K	.	Q	+	1	0	MYO16	108333495	1.000000	0.71417	0.932000	0.37286	0.459000	0.32528	3.226000	0.51254	1.333000	0.45449	0.650000	0.86243	CAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.572	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	C	NM_015011	-		109535494	1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	SNP	1.000	A	A	109535494	C	A	109535494	3	1	46	1	0	0	0	0	1	0	0	0	10066	595	21	3	1493	3	MYO16	13	109535494	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		109535494	5634384	18	2745											
NDN	4692	genome.wustl.edu	37	chr15	23931460	23931460	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattagcctcccgcagagctCtggcctcctccagagcttct	9	16	2	2			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr15:23931460C>A	ENST00000331837.4	-	1	990	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	302					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCGCAGAGCTCTGGCCTCCTC	0.562									Prader-Willi syndrome																																								0								ENSG00000182636						40	43	42					15																	23931460		2201	4297	6498	NDN	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	-	HGNC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.905G>T	15.37:g.23931460C>A	ENSP00000332643:p.Arg302Ile	Somatic	0	39	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B2R6Z5	Missense_Mutation	SNP	32	0	0	31	31.11	14	pfam_MAGE,pfscan_MAGE	p.R302I	ENST00000331837.4	37	c.905	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844334	0.71488	.	.	ENSG00000182636	ENST00000331837	T	0.02498	4.27	3.64	3.64	0.41730	.	0.765199	0.11447	N	0.563148	T	0.03178	0.0093	N	0.05124	-0.11	0.46396	D	0.999024	D	0.61697	0.99	P	0.51615	0.675	T	0.64643	-0.6359	10	0.45353	T	0.12	.	11.1184	0.48275	0.0:1.0:0.0:0.0	.	302	Q99608	NECD_HUMAN	I	302	ENSP00000332643:R302I	ENSP00000332643:R302I	R	-	2	0	NDN	21482553	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.606000	0.36826	2.328000	0.79073	0.655000	0.94253	AGA	-	NULL		0.562	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	protein_coding	OTTHUMT00000251226.2	C	NM_002487	-		23931460	-1	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23931460	C	A	23931460	3	1	46	1	0	0	0	0	1	0	0	0	10249	913	32	3	64	3	NDN	15	23931460	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		23931460	78599932	19	2746											
AZI1	22994	genome.wustl.edu	37	chr17	79193762	79193762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcggcactgccaggaCgccgggacacaggcggaggg	20	11	0	0	rs530864094		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr17:79193762C>T	ENST00000269392.4	-	2	342	c.95G>A	c.(94-96)cGt>cAt	p.R32H	AZI1_ENST00000575907.1_Missense_Mutation_p.R32H|AZI1_ENST00000374782.3_Missense_Mutation_p.R32H|AZI1_ENST00000450824.2_Missense_Mutation_p.R32H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		32					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACTGCCAGGACGCCGGGACAC	0.662													C|||	1	0.000199681	0	0	5008	,	,		17206	0.001		0	False		,,,				2504	0																0								ENSG00000141577						100	89	93					17																	79193762		2203	4300	6503	AZI1	SO:0001583	missense	0			-	HGNC																												ENST00000269392.4:c.95G>A	17.37:g.79193762C>T	ENSP00000269392:p.Arg32His	Somatic	0	90	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	67	33.00	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	31	0	0	23	37.84	14	superfamily_t-SNARE	p.R32H	ENST00000269392.4	37	c.95		17	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678689	0.68042	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.27402	1.67;1.67;1.67	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000001	T	0.52354	0.1729	M	0.66939	2.045	0.44816	D	0.997822	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.57596	-0.7784	10	0.87932	D	0	-14.9778	13.4173	0.60976	0.0:1.0:0.0:0.0	.	32;32;32;32	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	32	ENSP00000393583:R32H;ENSP00000363914:R32H;ENSP00000269392:R32H	ENSP00000269392:R32H	R	-	2	0	AZI1	76808357	0.997000	0.39634	0.913000	0.36048	0.457000	0.32468	4.719000	0.61937	1.948000	0.56530	0.462000	0.41574	CGT	-	NULL		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	protein_coding	OTTHUMT00000256070.1	C		-		79193762	-1	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	SNP	0.998	T	T	79193762	C	T	79193762	3	4	46	1	0	0	0	0	1	0	0	0	1240	536	19	1	3247	1	AZI1	17	79193762	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09		79193762	2001448	20	2747											
CYP4F2	8529	genome.wustl.edu	37	chr19	16008347	16008347	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggagccaggaggccccGaccagcaggaggagcagcca	16	14	0	0	rs142765310		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr19:16008347G>A	ENST00000221700.6	-	2	170	c.75C>T	c.(73-75)gtC>gtT	p.V25V	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						AGGAGGCCCCGACCAGCAGGA	0.657													.|||	1	0.000199681	0	0	5008	,	,		15873	0.001		0	False		,,,				2504	0																0								ENSG00000186115	G		1,4405	2.1+/-5.4	0,1,2202	47	50	49		75	-4.8	0	19	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	CYP4F2	NM_001082.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		25/521	16008347	1,13005	2203	4300	6503	CYP4F2	SO:0001819	synonymous_variant	0			-	HGNC	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.75C>T	19.37:g.16008347G>A		Somatic	1	114	0.87		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	127	17.53		Silent	SNP	15	0	0	41	18.00	9	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.V25	ENST00000221700.6	37	c.75	CCDS12336.1	19																																																																																			-	NULL		0.657	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	protein_coding	OTTHUMT00000460372.3	G	NM_001082	rs142765310		16008347	-1	no_errors	ENST00000221700	ensembl	human	known	74_37	silent	SNP	0.003	A	A	16008347	G	A	16008347	2	1	46	1	0	0	0	0	0	0	0	1	4190	1045	37	1		1	CYP4F2	19	16008347	Silent	SNP	G	TCGA-DX-A3U5-01A-11D-A228-09		16008347	43120636	21	2748											
DMKN	93099	genome.wustl.edu	37	chr19	35991479	35991479	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgatgacgcgtccgCaccctgaaaggaagaagggg	15	10	0	4	rs2293696		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr19:35991479C>G	ENST00000339686.3	-	12	1419	c.1243G>C	c.(1243-1245)Gcg>Ccg	p.A415P	DMKN_ENST00000429837.1_Missense_Mutation_p.A374P|DMKN_ENST00000408915.2_Missense_Mutation_p.A29P|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000414866.2_Missense_Mutation_p.A128P|DMKN_ENST00000443640.1_Missense_Mutation_p.A178P|DMKN_ENST00000480502.1_Missense_Mutation_p.A109P|DMKN_ENST00000402589.2_Missense_Mutation_p.A128P|DMKN_ENST00000472252.2_Missense_Mutation_p.A62P|DMKN_ENST00000436012.1_Missense_Mutation_p.A111P|DMKN_ENST00000467637.1_Missense_Mutation_p.A140P|DMKN_ENST00000602781.1_Missense_Mutation_p.A128P|DMKN_ENST00000419602.1_Missense_Mutation_p.A404P|DMKN_ENST00000492341.2_Missense_Mutation_p.A62P	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	415			A -> S (in dbSNP:rs2293696).			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACGCGTCCGCACCCTGAAAG	0.617																																																	0								ENSG00000161249						71	48	56					19																	35991479		2203	4300	6503	DMKN	SO:0001583	missense	0			-	HGNC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1243G>C	19.37:g.35991479C>G	ENSP00000342012:p.Ala415Pro	Somatic	0	44	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	23	0	0	30	23.08	9	NULL	p.A415P	ENST00000339686.3	37	c.1243	CCDS12463.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.375093|2.375093	0.42105|0.42105	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000434389	T;T;T;T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34|.	3.96|3.96	0.0367|0.0367	0.14193|0.14193	.|.	1.172480|.	0.06548|.	N|.	0.744470|.	T|T	0.22085|0.22085	0.0532|0.0532	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;P;P;P;D;D;D;B;B;B;B|.	0.64830|.	0.001;0.001;0.874;0.514;0.828;0.965;0.994;0.981;0.003;0.0;0.0;0.005|.	B;B;P;B;B;B;P;P;B;B;B;B|.	0.62491|.	0.002;0.001;0.466;0.124;0.282;0.367;0.903;0.788;0.005;0.001;0.001;0.006|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.62326|.	D|.	0.03|.	0.6512|0.6512	1.9497|1.9497	0.03364|0.03364	0.2811:0.4367:0.1699:0.1124|0.2811:0.4367:0.1699:0.1124	.|.	111;62;71;71;91;109;404;374;415;128;178;29|.	B4E3D1;B7ZB10;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.	.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.	P|S	29;128;415;111;128;374;404;178|125	ENSP00000386225:A29P;ENSP00000384509:A128P;ENSP00000342012:A415P;ENSP00000412075:A111P;ENSP00000392222:A128P;ENSP00000405503:A374P;ENSP00000391036:A404P;ENSP00000406864:A178P|.	ENSP00000342012:A415P|.	A|C	-|-	1|2	0|0	DMKN|DMKN	40683319|40683319	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	-0.331000|-0.331000	0.07914|0.07914	-0.019000|-0.019000	0.14055|0.14055	0.436000|0.436000	0.28706|0.28706	GCG|TGC	-	NULL		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	protein_coding	OTTHUMT00000109461.2	C	NM_033317	-		35991479	-1	no_errors	ENST00000339686	ensembl	human	known	74_37	missense	SNP	0.000	G	G	35991479	C	G	35991479	3	3	46	1	0	0	0	0	1	0	0	0	4584	710	25	4	249	4	DMKN	19	35991479	Missense_Mutation	SNP	C	TCGA-DX-A3U5-01A-11D-A228-09	19983132	35991479	23137504	22	2749											
SLC38A5	92745	genome.wustl.edu	37	chrX	48321358	48321358	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtttcccttcaagaAccagtccctagagagacagg	12	10	1	3			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chrX:48321358A>T	ENST00000376876.3	-	8	1342	c.499T>A	c.(499-501)Ttc>Atc	p.F167I	SLC38A5_ENST00000317669.5_Missense_Mutation_p.F167I|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Missense_Mutation_p.F116I			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	167					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCCTTCAAGAACCAGTCCCTA	0.532																																																	0								ENSG00000017483						113	78	90					X																	48321358		2203	4299	6502	SLC38A5	SO:0001583	missense	0			-	HGNC	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.499T>A	X.37:g.48321358A>T	ENSP00000366073:p.Phe167Ile	Somatic	0	32	0		0.574277626056253				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	19	0	0	4	73.68	14	pfam_AA_transpt_TM	p.F167I	ENST00000376876.3	37	c.499	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	a	22.9	4.349753	0.82132	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711	T;T;T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38;4.38;4.38	5.02	3.81	0.43845	.	0.277931	0.41294	D	0.000910	T	0.04952	0.0133	M	0.70275	2.135	0.51767	D	0.999932	B	0.31290	0.318	B	0.37833	0.259	T	0.16335	-1.0406	10	0.87932	D	0	.	9.2098	0.37311	0.8192:0.1808:0.0:0.0	.	167	Q8WUX1	S38A5_HUMAN	I	167;116;167;167;167;167;167	ENSP00000366073:F167I;ENSP00000366071:F116I;ENSP00000313740:F167I;ENSP00000402988:F167I;ENSP00000407258:F167I;ENSP00000403976:F167I;ENSP00000389644:F167I	ENSP00000313740:F167I	F	-	1	0	SLC38A5	48206302	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	6.632000	0.74281	0.548000	0.28955	0.417000	0.27973	TTC	-	pfam_AA_transpt_TM		0.532	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	A	NM_033518	-		48321358	-1	no_errors	ENST00000317669	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48321358	A	T	48321358	3	4	46	1	0	0	0	0	1	0	0	0	14615	43	2	5	955	5	SLC38A5	23	48321358	Missense_Mutation	SNP	A	TCGA-DX-A3U5-01A-11D-A228-09		48321358	106949202	23	2750											
SMC6	79677	genome.wustl.edu	37	chr2	17927101	17927101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttcgcttaccaaagtaGtacctttacattcgtcttcg	5	10	1	0	rs143978525	byFrequency	TCGA-DX-A3U6-01A-11D-A29N-09	TCGA-DX-A3U6-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db650eff-4e2c-4ce3-9124-7697b6e03359	7536cf00-aed9-4045-94e7-e562e7ec6b34	g.chr2:17927101G>A	ENST00000448223.2	-	3	382	c.113C>T	c.(112-114)aCt>aTt	p.T38I	SMC6_ENST00000351948.4_Missense_Mutation_p.T38I|SMC6_ENST00000402989.1_Missense_Mutation_p.T38I|SMC6_ENST00000381272.4_Missense_Mutation_p.T38I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	38					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACCAAAGTAGTACCTTTACA	0.303																																																	0								ENSG00000163029						174	161	165					2																	17927101		2203	4298	6501	SMC6	SO:0001583	missense	0			-	HGNC	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.113C>T	2.37:g.17927101G>A	ENSP00000404092:p.Thr38Ile	Somatic	0	44	0		0.508750463752433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	43	0	0	75	2.56	2	superfamily_P-loop_NTPase	p.T38I	ENST00000448223.2	37	c.113	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426349	0.25726	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852;ENST00000428868	T;T;T;T;T	0.32988	2.65;2.65;2.15;2.65;1.43	3.96	3.06	0.35304	.	0.738632	0.13264	N	0.401074	T	0.16128	0.0388	N	0.08118	0	0.22240	N	0.999264	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.11329	0.001;0.001;0.006	T	0.17776	-1.0358	10	0.37606	T	0.19	.	9.5596	0.39360	0.0:0.2139:0.7861:0.0	.	38;38;38	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	I	38	ENSP00000404092:T38I;ENSP00000323439:T38I;ENSP00000370672:T38I;ENSP00000384539:T38I;ENSP00000408644:T38I	ENSP00000323439:T38I	T	-	2	0	SMC6	17790582	0.998000	0.40836	0.998000	0.56505	0.656000	0.38851	2.039000	0.41193	1.215000	0.43411	0.561000	0.74099	ACT	-	NULL		0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	protein_coding	OTTHUMT00000207359.1	G	NM_024624	-		17927101	-1	no_errors	ENST00000381272	ensembl	human	known	74_37	missense	SNP	0.998	A	A	17927101	G	A	17927101	3	1	47	1	0	0	0	0	1	0	0	0	14795	1029	36	2	3266	2	SMC6	2	17927101	Missense_Mutation	SNP	G	TCGA-DX-A3U6-01A-11D-A29N-09		17927101	225272272	1	2751											
FIBCD1	84929	genome.wustl.edu	37	chr9	133779553	133779553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgtcggcataggaggcGtgcgcaccgcgcaggtactg	16	13	0	0			TCGA-DX-A3U6-01A-11D-A29N-09	TCGA-DX-A3U6-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db650eff-4e2c-4ce3-9124-7697b6e03359	7536cf00-aed9-4045-94e7-e562e7ec6b34	g.chr9:133779553G>A	ENST00000372338.4	-	7	1526	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	FIBCD1_ENST00000448616.1_Silent_p.H428H|FIBCD1_ENST00000372337.2_Silent_p.H270H|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	428	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CATAGGAGGCGTGCGCACCGC	0.627																																																	0								ENSG00000130720						128	108	115					9																	133779553		2203	4300	6503	FIBCD1	SO:0001819	synonymous_variant	0			-	HGNC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1284C>T	9.37:g.133779553G>A		Somatic	0	46	0		0.508750463752433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	17	0	0	53	1.85	1	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.H428	ENST00000372338.4	37	c.1284	CCDS6937.1	9																																																																																			-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.627	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	protein_coding	OTTHUMT00000054687.2	G	NM_032843	-		133779553	-1	no_errors	ENST00000372338	ensembl	human	known	74_37	silent	SNP	1.000	A	A	133779553	G	A	133779553	2	1	47	1	0	0	0	0	0	0	0	1	5886	1136	40	1		1	FIBCD1	9	133779553	Silent	SNP	G	TCGA-DX-A3U6-01A-11D-A29N-09		133779553	7433878	2	2752											
C10orf12	26148	genome.wustl.edu	37	chr10	98743522	98743522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagtttatggaatggtGtgctgaggaggagaaccaag	15	5	0	2			TCGA-DX-A3U6-01A-11D-A29N-09	TCGA-DX-A3U6-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db650eff-4e2c-4ce3-9124-7697b6e03359	7536cf00-aed9-4045-94e7-e562e7ec6b34	g.chr10:98743522G>T	ENST00000286067.2	+	1	2482	c.2375G>T	c.(2374-2376)tGt>tTt	p.C792F		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	792										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATGGAATGGTGTGCTGAGGAG	0.483																																																	0								ENSG00000155640						78	75	76					10																	98743522		2203	4300	6503	C10orf12	SO:0001583	missense	0			-	HGNC	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2375G>T	10.37:g.98743522G>T	ENSP00000286067:p.Cys792Phe	Somatic	0	40	0		0.508750463752433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q9H945|Q9Y457	Missense_Mutation	SNP	27	0	0	62	0.00	0	NULL	p.C792F	ENST00000286067.2	37	c.2375	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003978	0.54254	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09350	2.99	5.95	5.95	0.96441	.	0.225655	0.31210	N	0.008056	T	0.32436	0.0829	L	0.54323	1.7	0.51767	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	T	0.00276	-1.1855	10	0.72032	D	0.01	-6.2304	20.3927	0.98949	0.0:0.0:1.0:0.0	.	792	Q8N655	CJ012_HUMAN	F	792;626	ENSP00000286067:C792F	ENSP00000286067:C792F	C	+	2	0	C10orf12	98733512	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.492000	0.73654	2.833000	0.97629	0.655000	0.94253	TGT	-	NULL		0.483	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	protein_coding	OTTHUMT00000049627.1	G	NM_015652	-		98743522	1	no_errors	ENST00000286067	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98743522	G	T	98743522	3	4	47	1	0	0	0	0	1	0	0	0	1591	1377	48	3	2377	3	C10orf12	10	98743522	Missense_Mutation	SNP	G	TCGA-DX-A3U6-01A-11D-A29N-09		98743522	36791225	3	2753											
RDH16	8608	genome.wustl.edu	37	chr12	57346713	57346713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccttactggtcacagCagtcttgaaatagccaggtt	8	11	3	1			TCGA-DX-A3U6-01A-11D-A29N-09	TCGA-DX-A3U6-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db650eff-4e2c-4ce3-9124-7697b6e03359	7536cf00-aed9-4045-94e7-e562e7ec6b34	g.chr12:57346713C>T	ENST00000398138.3	-	3	1490	c.634G>A	c.(634-636)Gct>Act	p.A212T	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	212					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CTGGTCACAGCAGTCTTGAAA	0.507																																					GBM(179;741 2921 43105 45298)												0								ENSG00000139547						129	127	127					12																	57346713		1889	4112	6001	RDH16	SO:0001583	missense	0			-	HGNC		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29674	protein-coding gene	gene with protein product	"microsomal NAD+ dependent retinol dehydrogenase 4", "short chain dehydrogenase/reductase family 9C, member 8"		"retinol dehydrogenase 16 (all-trans and 13-cis)"			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.634G>A	12.37:g.57346713C>T	ENSP00000381206:p.Ala212Thr	Somatic	0	23	0		0.508750463752433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	Q9UNV2	Missense_Mutation	SNP	26	0	0	56	43.43	43	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A212T	ENST00000398138.3	37	c.634	CCDS41797.1	12	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309970	0.23821	.	.	ENSG00000139547	ENST00000398138	D	0.93189	-3.18	5.17	-6.91	0.01649	NAD(P)-binding domain (1);	5.594590	0.00166	N	0.000001	D	0.83839	0.5341	N	0.20881	0.62	0.09310	N	1	B;B	0.28082	0.2;0.001	B;B	0.17098	0.017;0.006	T	0.76035	-0.3106	10	0.22109	T	0.4	.	4.4822	0.11773	0.1014:0.1302:0.2006:0.5677	.	88;212	Q59FX7;O75452	.;RDH16_HUMAN	T	212	ENSP00000381206:A212T	ENSP00000353980:A88T	A	-	1	0	RDH16	55632980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.985000	0.00319	-1.366000	0.02155	-0.345000	0.07892	GCT	-	prints_Glc/ribitol_DH		0.507	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH16	protein_coding	OTTHUMT00000410898.1	C	NM_003708	-		57346713	-1	no_errors	ENST00000398138	ensembl	human	known	74_37	missense	SNP	0.000	T	T	57346713	C	T	57346713	3	4	47	1	0	0	0	0	1	0	0	0	13202	710	25	2	327	2	RDH16	12	57346713	Missense_Mutation	SNP	C	TCGA-DX-A3U6-01A-11D-A29N-09		57346713	76505182	4	2754											
USP24	23358	genome.wustl.edu	37	chr1	55537558	55537559	+	Frame_Shift_Ins	INS	-	-	T													ttactgcttcctgattgctcINStttttcattcaacaaagctg							TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr1:55537558_55537559insT	ENST00000294383.6	-	67	7727_7728	c.7728_7729insA	c.(7726-7731)aaagagfs	p.E2577fs	USP24_ENST00000407756.1_Frame_Shift_Ins_p.E2417fs|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2577					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						CCTGATTGCTCTTTTTCATTCA	0.495											OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162402																																			USP24	SO:0001589	frameshift_variant	0				HGNC	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.7729dupA	1.37:g.55537563_55537563dupT	ENSP00000294383:p.Glu2577fs	Somatic	0	48	0	1008	0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	58	26.58	Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Ins	INS	26	0	0	49	18.33	11	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.E2416fs	ENST00000294383.6	37	c.7249_7248	CCDS44154.2	1																																																																																			-	NULL		0.495	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	protein_coding	OTTHUMT00000022275.2	-				55537559	-1	no_errors	ENST00000407756	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.920	T	T	55537559	-	T	55537558	7	5	48	1	0	1	1	0	0	0	0	0	17062	922	32	0	141	0	USP24	1	55537558	Frame_Shift_Ins	INS	-	TCGA-DX-A3U7-01A-11D-A29N-09		55537558	193713063	1	2755											
CD48	962	genome.wustl.edu	37	chr1	160651093	160651093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaattatgtggcataaggGtggtttcaagcacactgttc	11	6	1	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr1:160651093G>A	ENST00000368046.3	-	3	638	c.551C>T	c.(550-552)aCc>aTc	p.T184I	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	184	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGCATAAGGGTGGTTTCAAG	0.498																																																	0								ENSG00000117091						171	152	159					1																	160651093		2203	4300	6503	CD48	SO:0001583	missense	0			-	HGNC	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.551C>T	1.37:g.160651093G>A	ENSP00000357025:p.Thr184Ile	Somatic	0	69	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	133	15.82	Q5U055|Q8MGR0	Missense_Mutation	SNP	29	0	0	94	12.84	14	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T184I	ENST00000368046.3	37	c.551	CCDS1208.1	1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786134	0.16189	.	.	ENSG00000117091	ENST00000368046	T	0.12774	2.65	3.57	-2.13	0.07144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.085050	0.06941	N	0.812766	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	0.999998	P;P	0.47484	0.573;0.896	B;P	0.44394	0.23;0.448	T	0.35425	-0.9789	10	0.16896	T	0.51	-0.0682	7.8823	0.29629	0.5811:0.0:0.4189:0.0	.	184;184	Q6IAZ2;P09326	.;CD48_HUMAN	I	184	ENSP00000357025:T184I	ENSP00000357025:T184I	T	-	2	0	CD48	158917717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.625000	0.02036	-0.441000	0.07201	-0.345000	0.07892	ACC	-	pfscan_Ig-like_dom		0.498	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	protein_coding	OTTHUMT00000060471.1	G	NM_001778	-		160651093	-1	no_errors	ENST00000368046	ensembl	human	known	74_37	missense	SNP	0.000	A	A	160651093	G	A	160651093	3	1	48	1	0	0	0	0	1	0	0	0	3022	1261	44	2	188	2	CD48	1	160651093	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	105113535	160651093	88599528	2	2756											
DYNC2LI1	51626	genome.wustl.edu	37	chr2	44028001	44028001	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaccagtaaatcagaagctCtattactaaaaatacgtgga	6	7	2	1	rs373318313		TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr2:44028001C>T	ENST00000260605.8	+	9	776	c.676C>T	c.(676-678)Cta>Tta	p.L226L	DYNC2LI1_ENST00000443170.3_Silent_p.L100L|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Silent_p.L227L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	226					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCAGAAGCTCTATTACTAAA	0.303																																																	0								ENSG00000138036						84	89	87					2																	44028001		2203	4298	6501	DYNC2LI1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.676C>T	2.37:g.44028001C>T		Somatic	0	51	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	26	66.67	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	44	0	0	20	61.54	32	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.L227	ENST00000260605.8	37	c.679	CCDS1813.1	2																																																																																			-	NULL		0.303	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYNC2LI1	protein_coding	OTTHUMT00000250536.2	C	NM_016008	-		44028001	1	no_errors	ENST00000605786	ensembl	human	known	74_37	silent	SNP	0.987	T	T	44028001	C	T	44028001	2	4	48	1	0	0	0	0	0	0	0	1	4849	912	32	2		2	DYNC2LI1	2	44028001	Silent	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09		44028001	199171372	3	2757											
KCNH8	131096	genome.wustl.edu	37	chr3	19556882	19556882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgattttggctctgaacGaatcagatcagagcccagaa	9	8	3	5			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr3:19556882G>A	ENST00000328405.2	+	14	2770	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	835					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						GGCTCTGAACGAATCAGATCA	0.358																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						68	70	69					3																	19556882		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	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.2504G>A	3.37:g.19556882G>A	ENSP00000328813:p.Arg835Gln	Somatic	0	48	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	42	0	0	37	27.45	14	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.R835Q	ENST00000328405.2	37	c.2504	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947815	0.18356	.	.	ENSG00000183960	ENST00000328405	D	0.98313	-4.86	5.59	3.43	0.39272	.	0.329251	0.15498	N	0.259168	D	0.94689	0.8287	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.90796	0.4690	9	.	.	.	.	6.4638	0.21970	0.3284:0.0:0.6716:0.0	.	835	Q96L42	KCNH8_HUMAN	Q	835	ENSP00000328813:R835Q	.	R	+	2	0	KCNH8	19531886	0.997000	0.39634	0.993000	0.49108	0.984000	0.73092	2.091000	0.41691	1.332000	0.45431	0.650000	0.86243	CGA	-	NULL		0.358	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	G	NM_144633	-		19556882	1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	0.970	A	A	19556882	G	A	19556882	3	1	48	1	0	0	0	0	1	0	0	0	8040	1058	37	1	2558	1	KCNH8	3	19556882	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		19556882	178465548	4	2758											
DCBLD2	131566	genome.wustl.edu	37	chr3	98536625	98536625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttaccttatcttgctcCacaccaggctctctgtacac	4	15	2	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr3:98536625C>T	ENST00000326840.6	-	9	1562	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	DCBLD2_ENST00000326857.9_Silent_p.V400V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	400	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TATCTTGCTCCACACCAGGCT	0.413																																																	0								ENSG00000057019						124	111	115					3																	98536625		1886	4108	5994	DCBLD2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1200G>A	3.37:g.98536625C>T		Somatic	0	63	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	76	22.45	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	30	0	0	56	17.65	12	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.V400	ENST00000326840.6	37	c.1200	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	C	8.710	0.911793	0.17907	.	.	ENSG00000057019	ENST00000404023	.	.	.	5.72	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1497	0.42784	0.1849:0.6858:0.1292:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCBLD2	100019315	0.959000	0.32827	1.000000	0.80357	0.989000	0.77384	0.372000	0.20467	1.550000	0.49438	0.655000	0.94253	.	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.413	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	protein_coding	OTTHUMT00000324675.2	C	NM_080927	-		98536625	-1	no_errors	ENST00000326857	ensembl	human	known	74_37	silent	SNP	0.999	T	T	98536625	C	T	98536625	2	4	48	1	0	0	0	0	0	0	0	1	4283	581	21	2		2	DCBLD2	3	98536625	Silent	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09	78979743	98536625	99485805	5	2759											
MCCC1	56922	genome.wustl.edu	37	chr3	182789076	182789076	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttccttcaggcactggtcTgattggtcctcaccatgata	9	11	3	2	rs374255867		TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr3:182789076T>A	ENST00000265594.4	-	6	707	c.561A>T	c.(559-561)tcA>tcT	p.S187S	MCCC1_ENST00000492597.1_Silent_p.S78S|MCCC1_ENST00000539926.1_Silent_p.S52S	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	187	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|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)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGCACTGGTCTGATTGGTCCT	0.493																																																	0								ENSG00000078070						110	105	107					3																	182789076		2203	4300	6503	MCCC1	SO:0001819	synonymous_variant	0			-	HGNC	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.561A>T	3.37:g.182789076T>A		Somatic	0	46	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	Q59ES4|Q9H959|Q9NS97	Silent	SNP	33	0	0	55	16.67	11	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.S187	ENST00000265594.4	37	c.561	CCDS3241.1	3																																																																																			-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom		0.493	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	protein_coding	OTTHUMT00000350775.1	T	NM_020166	-		182789076	-1	no_errors	ENST00000265594	ensembl	human	known	74_37	silent	SNP	0.238	A	A	182789076	T	A	182789076	2	1	48	1	0	0	0	0	0	0	0	1	9376	1567	55	5		5	MCCC1	3	182789076	Silent	SNP	T	TCGA-DX-A3U7-01A-11D-A29N-09	84252451	182789076	15233354	6	2760											
GPRIN3	285513	genome.wustl.edu	37	chr4	90169946	90169946	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggagtcattcctgctaacCtcccatcttctttacacgta	5	14	3	0	rs74653642	byFrequency	TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr4:90169946C>G	ENST00000609438.1	-	2	1834	c.1316G>C	c.(1315-1317)aGg>aCg	p.R439T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R439T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	439										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCCTGCTAACCTCCCATCTTC	0.468																																																	0								ENSG00000185477						94	95	94					4																	90169946		2203	4300	6503	GPRIN3	SO:0001583	missense	0			-	HGNC	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1316G>C	4.37:g.90169946C>G	ENSP00000476603:p.Arg439Thr	Somatic	0	22	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	Q8IVE4	Missense_Mutation	SNP	37	0	0	35	25.53	12	NULL	p.R439T	ENST00000609438.1	37	c.1316	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918495	0.33908	.	.	ENSG00000185477	ENST00000333209	T	0.13778	2.56	5.38	-5.14	0.02875	.	0.723950	0.11256	N	0.583158	T	0.07863	0.0197	L	0.32530	0.975	0.09310	N	1	B	0.21225	0.053	B	0.18561	0.022	T	0.31392	-0.9945	10	0.40728	T	0.16	-0.9778	5.1907	0.15209	0.1109:0.1615:0.1098:0.6178	.	439	Q6ZVF9	GRIN3_HUMAN	T	439	ENSP00000328672:R439T	ENSP00000328672:R439T	R	-	2	0	GPRIN3	90388969	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	-0.897000	0.04110	-0.734000	0.04843	-0.748000	0.03510	AGG	-	NULL		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	C	NM_198281	-		90169946	-1	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	SNP	0.000	G	G	90169946	C	G	90169946	3	3	48	1	0	0	0	0	1	0	0	0	6733	681	24	4	1018	4	GPRIN3	4	90169946	Missense_Mutation	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09		90169946	100984330	7	2761											
FAT4	79633	genome.wustl.edu	37	chr4	126328179	126328179	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactgctagttcgtgctgatGatggtcttcagtcctcggat	11	10	2	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr4:126328179G>T	ENST00000394329.3	+	3	5465	c.5452G>T	c.(5452-5454)Gat>Tat	p.D1818Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D116Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1818	Cadherin 17. {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						TCGTGCTGATGATGGTCTTCA	0.463																																																	0								ENSG00000196159						159	148	152					4																	126328179		2203	4300	6503	FAT4	SO:0001583	missense	0			-	HGNC	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.5452G>T	4.37:g.126328179G>T	ENSP00000377862:p.Asp1818Tyr	Somatic	0	46	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	33	0	0	30	40.00	20	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D1818Y	ENST00000394329.3	37	c.5452	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721259	0.89205	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.68903	-0.36;-0.36	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.35320	U	0.003289	D	0.89347	0.6689	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93001	0.6423	10	0.87932	D	0	.	19.484	0.95022	0.0:0.0:1.0:0.0	.	116;1818	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	Y	1818;116	ENSP00000377862:D1818Y;ENSP00000335169:D116Y	ENSP00000335169:D116Y	D	+	1	0	FAT4	126547629	1.000000	0.71417	0.935000	0.37517	0.994000	0.84299	9.365000	0.97139	2.669000	0.90835	0.650000	0.86243	GAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	G	NM_024582	-		126328179	1	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126328179	G	T	126328179	3	4	48	1	0	0	0	0	1	0	0	0	5694	1290	45	3	5462	3	FAT4	4	126328179	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	36158233	126328179	64826097	8	2762											
FSTL5	56884	genome.wustl.edu	37	chr4	162463768	162463768	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgaggctttggtatgccctCtgcatggcacctaagactgg	12	11	1	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr4:162463768C>G	ENST00000306100.5	-	9	1529	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	FSTL5_ENST00000379164.4_Missense_Mutation_p.E364Q|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.E364Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.E364Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	365	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGTATGCCCTCTGCATGGCAC	0.463																																																	0								ENSG00000168843						84	83	83					4																	162463768		2203	4300	6503	FSTL5	SO:0001583	missense	0			-	HGNC	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1093G>C	4.37:g.162463768C>G	ENSP00000305334:p.Glu365Gln	Somatic	0	32	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	37	0	0	26	33.33	13	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.E365Q	ENST00000306100.5	37	c.1093	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558361	0.86231	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049784	0.85682	D	0.000000	T	0.69904	0.3163	N	0.22421	0.69	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.966;0.988	D;P;P	0.65323	0.934;0.735;0.828	T	0.69862	-0.5030	10	0.35671	T	0.21	.	17.4015	0.87461	0.0:1.0:0.0:0.0	.	364;364;365	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Q	365;364;364;364	ENSP00000305334:E365Q;ENSP00000368462:E364Q;ENSP00000389270:E364Q;ENSP00000440409:E364Q	ENSP00000305334:E365Q	E	-	1	0	FSTL5	162683218	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.710000	0.68392	2.422000	0.82143	0.462000	0.41574	GAG	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.463	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	protein_coding	OTTHUMT00000364773.2	C	NM_020116	-		162463768	-1	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	SNP	1.000	G	G	162463768	C	G	162463768	3	3	48	1	0	0	0	0	1	0	0	0	6082	922	32	4	1482	4	FSTL5	4	162463768	Missense_Mutation	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09	36135589	162463768	28690508	9	2763											
TMCO6	55374	genome.wustl.edu	37	chr5	140024571	140024571	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttccctgcccctaggCtgttcaggtcttcctgcagc	8	15	3	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr5:140024571C>G	ENST00000394671.3	+	12	1471	c.1370C>G	c.(1369-1371)gCt>gGt	p.A457G	TMCO6_ENST00000537378.1_Splice_Site_p.A217G|NDUFA2_ENST00000510680.1_Intron|MIR3655_ENST00000581765.1_RNA|TMCO6_ENST00000252100.6_Splice_Site_p.A463G|IK_ENST00000417647.2_5'Flank	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	457					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCCTAGGCTGTTCAGGTC	0.562																																																	0								ENSG00000113119						85	84	84					5																	140024571		1913	4136	6049	TMCO6	SO:0001630	splice_region_variant	0			-	HGNC	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1369-1C>G	5.37:g.140024571C>G		Somatic	0	22	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q9BUU0|Q9P198	Missense_Mutation	SNP	22	0	0	35	27.08	13	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.A463G	ENST00000394671.3	37	c.1388	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	C	4.019	0.000959	0.07819	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.72051	-0.62;-0.62;-0.62	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.186769	0.35349	N	0.003268	T	0.53981	0.1830	N	0.17082	0.46	0.30455	N	0.774863	P;B	0.37330	0.59;0.447	B;B	0.37304	0.246;0.179	T	0.59397	-0.7462	10	0.38643	T	0.18	-6.1129	10.4824	0.44702	0.0:0.9112:0.0:0.0888	.	463;457	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	G	457;217;463	ENSP00000378166:A457G;ENSP00000444474:A217G;ENSP00000252100:A463G	ENSP00000252100:A463G	A	+	2	0	TMCO6	140004755	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	2.060000	0.41394	2.575000	0.86900	0.655000	0.94253	GCT	-	superfamily_ARM-type_fold		0.562	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	protein_coding	OTTHUMT00000251666.2	C	NM_018502	-	Missense_Mutation	140024571	1	no_errors	ENST00000252100	ensembl	human	known	74_37	missense	SNP	0.998	G	G	140024571	C	G	140024571	5	3	48	1	0	0	0	0	0	0	1	0	16007	811	28	4	1416	4	TMCO6	5	140024571	Splice_Site	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09		140024571	40890689	10	2764											
F13A1	2162	genome.wustl.edu	37	chr6	6174956	6174956	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccggaaggtgatggagagcTtgaagtcttttcccagcaca	12	9	1	3	rs151032137		TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr6:6174956T>A	ENST00000264870.3	-	12	1869	c.1604A>T	c.(1603-1605)aAg>aTg	p.K535M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	535					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGAGAGCTTGAAGTCTTT	0.493																																																	0								ENSG00000124491						287	228	248					6																	6174956		2203	4300	6503	F13A1	SO:0001583	missense	0			-	HGNC	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1604A>T	6.37:g.6174956T>A	ENSP00000264870:p.Lys535Met	Somatic	0	118	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	92	29.23	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	22	0	0	30	40.00	20	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.K535M	ENST00000264870.3	37	c.1604	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	T	12.79	2.045008	0.36085	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.69435	-0.4	5.78	4.59	0.56863	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.162465	0.56097	D	0.000036	T	0.61937	0.2387	M	0.72479	2.2	0.43994	D	0.996696	P;P	0.52692	0.955;0.853	P;P	0.51516	0.662;0.672	T	0.63189	-0.6693	10	0.36615	T	0.2	.	11.3081	0.49347	0.0:0.0717:0.0:0.9283	.	472;535	F5H080;P00488	.;F13A_HUMAN	M	535;472	ENSP00000264870:K535M	ENSP00000264870:K535M	K	-	2	0	F13A1	6119955	0.998000	0.40836	0.895000	0.35142	0.270000	0.26580	1.185000	0.32065	0.972000	0.38314	0.523000	0.50628	AAG	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	protein_coding	OTTHUMT00000039756.3	T	NM_000129	-		6174956	-1	no_errors	ENST00000264870	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6174956	T	A	6174956	3	1	48	1	0	0	0	0	1	0	0	0	5342	1609	56	5	610	5	F13A1	6	6174956	Missense_Mutation	SNP	T	TCGA-DX-A3U7-01A-11D-A29N-09		6174956	164940111	11	2765											
PEX7	5191	genome.wustl.edu	37	chr6	137147605	137147605	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctataaagaacacgctcagGaggtaggagggaaatctttc	11	7	3	1			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr6:137147605G>C	ENST00000318471.4	+	3	418	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	PEX7_ENST00000541292.1_Missense_Mutation_p.E113Q|PEX7_ENST00000367756.4_Missense_Mutation_p.E113Q	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	113					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.E113Q(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		ACACGCTCAGGAGGTAGGAGG	0.493																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000112357						72	67	68					6																	137147605		2203	4300	6503	PEX7	SO:0001583	missense	0			-	HGNC	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.337G>C	6.37:g.137147605G>C	ENSP00000315680:p.Glu113Gln	Somatic	0	48	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00	C0H5X6	Missense_Mutation	SNP	37	0	0	23	39.47	15	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E113Q	ENST00000318471.4	37	c.337	CCDS5180.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.156466	0.94686	.	.	ENSG00000112357	ENST00000367756;ENST00000541292;ENST00000318471	D;D;D	0.95918	-3.85;-2.03;-2.03	5.52	5.52	0.82312	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	0.97188	0.9081	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96165	0.9118	10	0.39692	T	0.17	.	19.4383	0.94807	0.0:0.0:1.0:0.0	.	113	O00628	PEX7_HUMAN	Q	113	ENSP00000356730:E113Q;ENSP00000441004:E113Q;ENSP00000315680:E113Q	ENSP00000315680:E113Q	E	+	1	0	PEX7	137189298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.961000	0.93122	2.589000	0.87451	0.655000	0.94253	GAG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.493	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX7	protein_coding	OTTHUMT00000042387.2	G	NM_000288	-		137147605	1	no_errors	ENST00000318471	ensembl	human	known	74_37	missense	SNP	1.000	C	C	137147605	G	C	137147605	3	2	48	1	0	0	0	0	1	0	0	0	11753	1175	41	4	347	4	PEX7	6	137147605	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	130972649	137147605	33967462	12	2766											
DERL1	79139	genome.wustl.edu	37	chr8	124031520	124031520	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaataaagatgtccaaccaGatttccaataagctcattga	5	8	1	3			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr8:124031520G>C	ENST00000259512.4	-	7	832	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Missense_Mutation_p.L78V|DERL1_ENST00000405944.3_Intron|DERL1_ENST00000419562.2_Missense_Mutation_p.L78V|DERL1_ENST00000523036.1_Missense_Mutation_p.L78V	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	178					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTCCAACCAGATTTCCAATA	0.358																																																	0								ENSG00000136986						80	77	78					8																	124031520		2203	4300	6503	DERL1	SO:0001583	missense	0			-	HGNC	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.532C>G	8.37:g.124031520G>C	ENSP00000259512:p.Leu178Val	Somatic	0	27	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	B3KW41|E9PH19	Missense_Mutation	SNP	31	0	0	51	28.17	20	pfam_DER1	p.L178V	ENST00000259512.4	37	c.532	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838191	0.51057	.	.	ENSG00000136986	ENST00000259512;ENST00000419562;ENST00000519018;ENST00000523036	T;T;T;T	0.31247	2.64;1.5;2.64;2.64	5.61	5.61	0.85477	.	0.061546	0.64402	D	0.000003	T	0.26593	0.0650	N	0.25485	0.75	0.80722	D	1	P;B	0.38223	0.623;0.22	B;B	0.40659	0.336;0.163	T	0.02282	-1.1183	10	0.09590	T	0.72	.	19.6373	0.95740	0.0:0.0:1.0:0.0	.	78;178	B4E1G1;Q9BUN8	.;DERL1_HUMAN	V	178;78;78;78	ENSP00000259512:L178V;ENSP00000389965:L78V;ENSP00000430086:L78V;ENSP00000429199:L78V	ENSP00000259512:L178V	L	-	1	2	DERL1	124100701	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.121000	0.64691	2.636000	0.89361	0.655000	0.94253	CTG	-	pfam_DER1		0.358	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	protein_coding	OTTHUMT00000381714.2	G	NM_024295	-		124031520	-1	no_errors	ENST00000259512	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124031520	G	C	124031520	3	2	48	1	0	0	0	0	1	0	0	0	4448	933	33	4	231	4	DERL1	8	124031520	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		124031520	22332502	13	2767											
FOXD4	2298	genome.wustl.edu	37	chr9	118004	118005	+	In_Frame_Ins	INS	-	-	CCTCGTCTTCCA													ctgctggctcgccgcctcctINScctcgtcttcatcttcctcc							TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr9:118004_118005insCCTCGTCTTCCA	ENST00000382500.2	-	1	412_413	c.115_116insTGGAAGACGAGG	c.(115-117)gag>gTGGAAGACGAGGag	p.38_39insVEDE		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCTCCTCCTCGTCTTCA	0.668																																																	0								ENSG00000170122																																			FOXD4	SO:0001652	inframe_insertion	0				HGNC	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.115_116insTGGAAGACGAGG	9.37:g.118004_118005insCCTCGTCTTCCA	ENSP00000371940:p.Glu38_Glu39insValGluAspGlu	Somatic					0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Ins	INS	12	0	0	17	0.00	0	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.39in_frame_insVEDE	ENST00000382500.2	37	c.116_115	CCDS34975.1	9																																																																																			-	NULL		0.668	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	protein_coding	OTTHUMT00000055433.1	-	NM_207305			118005	-1	no_errors	ENST00000382500	ensembl	human	known	74_37	in_frame_ins	INS	0.429:0.475	CCTCGTCTTCCA	CCTCGTCTTCCA	118005	-	CCTCGTCTTCCA	118004	7	5	48	1	0	1	1	0	0	0	0	0	6001	1551	54	0	1207	0	FOXD4	9	118004	In_Frame_Ins	INS	-	TCGA-DX-A3U7-01A-11D-A29N-09		118004	141095427	14	2768											
RET	5979	genome.wustl.edu	37	chr10	43615578	43615578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctggtagctgaggggcGgaagatgaagatttcggatt	15	6	0	4	rs373594744		TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr10:43615578G>A	ENST00000355710.3	+	15	2889	c.2657G>A	c.(2656-2658)cGg>cAg	p.R886Q	RET_ENST00000340058.5_Missense_Mutation_p.R886Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	886	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		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)	GCTGAGGGGCGGAAGATGAAG	0.572		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)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0								ENSG00000165731	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88	76	80		2657,2657	5.6	1	10		80	0,8600		0,0,4300	no	missense,missense	RET	NM_020630.4,NM_020975.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	886/1073,886/1115	43615578	1,13005	2203	4300	6503	RET	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	-	HGNC	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.2657G>A	10.37:g.43615578G>A	ENSP00000347942:p.Arg886Gln	Somatic	0	59	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	28	0	0	24	33.33	12	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.R886Q	ENST00000355710.3	37	c.2657	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.557926	0.96514	2.27E-4	0.0	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.89123	-2.47;-2.47	5.58	5.58	0.84498	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	0.91181	0.7222	N	0.25426	0.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.997;0.998	D	0.90729	0.4641	10	0.40728	T	0.16	.	19.5746	0.95436	0.0:0.0:1.0:0.0	.	632;886;886	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Q	886	ENSP00000347942:R886Q;ENSP00000344798:R886Q	ENSP00000344798:R886Q	R	+	2	0	RET	42935584	1.000000	0.71417	0.985000	0.45067	0.900000	0.52787	8.007000	0.88571	2.638000	0.89438	0.655000	0.94253	CGG	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.572	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	protein_coding	OTTHUMT00000047694.2	G	NM_020975	-		43615578	1	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	SNP	0.997	A	A	43615578	G	A	43615578	3	1	48	1	0	0	0	0	1	0	0	0	13243	1116	39	1	2715	1	RET	10	43615578	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		43615578	91919169	15	2769											
COL17A1	1308	genome.wustl.edu	37	chr10	105798854	105798854	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaccactaggaatgccAagagcccctggaacacctgg	12	12	0	1			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr10:105798854A>T	ENST00000353479.5	-	44	3212	c.2922T>A	c.(2920-2922)ctT>ctA	p.L974L	COL17A1_ENST00000369733.3_Silent_p.L929L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	974	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAGGAATGCCAAGAGCCCCTG	0.483																																																	0								ENSG00000065618						136	112	120					10																	105798854		2203	4300	6503	COL17A1	SO:0001819	synonymous_variant	0			-	HGNC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2922T>A	10.37:g.105798854A>T		Somatic	0	32	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	30	0	0	36	20.00	9	pfam_Collagen	p.L974	ENST00000353479.5	37	c.2922	CCDS7554.1	10																																																																																			-	NULL		0.483	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	A	NM_130778, NM_000494	-		105798854	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	SNP	0.973	T	T	105798854	A	T	105798854	2	4	48	1	0	0	0	0	0	0	0	1	3676	117	5	5		5	COL17A1	10	105798854	Silent	SNP	A	TCGA-DX-A3U7-01A-11D-A29N-09	62183276	105798854	29735893	16	2770											
FRG2B	441581	genome.wustl.edu	37	chr10	135438937	135438937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttttcgaattgacggtGtttggactcctagggcccga	12	9	0	1			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr10:135438937G>A	ENST00000425520.1	-	4	555	c.503C>T	c.(502-504)aCa>aTa	p.T168I	FRG2B_ENST00000443774.1_Missense_Mutation_p.T169I	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	168						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AATTGACGGTGTTTGGACTCC	0.557																																																	0								ENSG00000225899						126	152	143					10																	135438937		2193	4291	6484	FRG2B	SO:0001583	missense	0			-	HGNC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.503C>T	10.37:g.135438937G>A	ENSP00000401310:p.Thr168Ile	Somatic	0	97	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	100	27.54	Q5VSQ1	Missense_Mutation	SNP	50	0	0	58	27.50	22	NULL	p.T168I	ENST00000425520.1	37	c.503	CCDS44502.1	10	.	.	.	.	.	.	.	.	.	.	.	7.036	0.561550	0.13498	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.43688	0.94;0.94	.	.	.	.	1.278750	0.05806	N	0.613188	T	0.22781	0.0550	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	B	0.42062	0.374	T	0.15206	-1.0445	8	0.38643	T	0.18	-0.105	.	.	.	.	168	Q96QU4	FRG2B_HUMAN	I	169;168	ENSP00000408343:T169I;ENSP00000401310:T168I	ENSP00000401310:T168I	T	-	2	0	FRG2B	135288927	0.005000	0.15991	0.136000	0.22124	0.137000	0.21094	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	ACA	-	NULL		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	protein_coding	OTTHUMT00000467780.1	G	NM_001080998	-		135438937	-1	no_errors	ENST00000425520	ensembl	human	known	74_37	missense	SNP	0.147	A	A	135438937	G	A	135438937	3	1	48	1	0	0	0	0	1	0	0	0	6049	1377	48	2	336	2	FRG2B	10	135438937	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	29640083	135438937	95810	17	2771											
ZNF215	7762	genome.wustl.edu	37	chr11	6977273	6977273	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagcaacattcagaataTgaatatgggaatgacttgag	11	4	1	4			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:6977273T>A	ENST00000278319.5	+	7	1653	c.1065T>A	c.(1063-1065)taT>taA	p.Y355*	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.Y355*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	355					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATTCAGAATATGAATATGGGA	0.333																																																	0								ENSG00000149054						55	56	56					11																	6977273		2201	4296	6497	ZNF215	SO:0001587	stop_gained	0			-	HGNC	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1065T>A	11.37:g.6977273T>A	ENSP00000278319:p.Tyr355*	Somatic	0	13	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	Q96C84	Nonsense_Mutation	SNP	34	0	0	19	45.71	16	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Y355*	ENST00000278319.5	37	c.1065	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711530	0.89112	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	.	.	.	4.05	-1.39	0.08997	.	0.420768	0.17713	N	0.164540	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-1.4907	1.2726	0.02024	0.1456:0.1794:0.1502:0.5249	.	.	.	.	X	355	.	ENSP00000278319:Y355X	Y	+	3	2	ZNF215	6933849	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	-0.237000	0.08990	-0.243000	0.09653	0.533000	0.62120	TAT	-	NULL		0.333	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	protein_coding	OTTHUMT00000384550.1	T		-		6977273	1	no_errors	ENST00000278319	ensembl	human	known	74_37	nonsense	SNP	0.013	A	A	6977273	T	A	6977273	4	1	48	1	0	0	0	0	0	1	0	0	17778	1471	51	5	1083	5	ZNF215	11	6977273	Nonsense_Mutation	SNP	T	TCGA-DX-A3U7-01A-11D-A29N-09		6977273	128029243	18	2772											
GLYATL1	92292	genome.wustl.edu	37	chr11	58722681	58722681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttaggtgaggggataagaGtggctacattttcaaagtca	13	4	2	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:58722681G>T	ENST00000317391.4	+	7	686	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	GLYATL1_ENST00000300079.5_Missense_Mutation_p.V147L|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	116						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGGATAAGAGTGGCTACATT	0.443																																																	0								ENSG00000166840						123	123	123					11																	58722681		2201	4295	6496	GLYATL1	SO:0001583	missense	0			-	HGNC	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.346G>T	11.37:g.58722681G>T	ENSP00000322223:p.Val116Leu	Somatic	0	63	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	21	0	0	36	25.00	12	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.V147L	ENST00000317391.4	37	c.439	CCDS55768.1	11	.	.	.	.	.	.	.	.	.	.	.	5.360	0.251678	0.10185	.	.	ENSG00000166840	ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079	T;T;T	0.16897	2.31;2.31;2.31	1.78	0.477	0.16784	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	3.070580	0.03687	U	0.246440	T	0.12987	0.0315	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.004;0.007	T	0.27123	-1.0083	10	0.24483	T	0.36	.	3.9488	0.09360	0.3412:0.0:0.6588:0.0	.	147;116	Q969I3-2;Q969I3	.;GLYL1_HUMAN	L	139;93;116;147	ENSP00000434652:V139L;ENSP00000322223:V116L;ENSP00000300079:V147L	ENSP00000300079:V147L	V	+	1	0	GLYATL1	58479257	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.430000	0.21428	-0.150000	0.11195	0.411000	0.27672	GTG	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL1	protein_coding	OTTHUMT00000393783.1	G	NM_080661	-		58722681	1	no_errors	ENST00000300079	ensembl	human	known	74_37	missense	SNP	0.000	T	T	58722681	G	T	58722681	3	4	48	1	0	0	0	0	1	0	0	0	6482	1029	36	3	461	3	GLYATL1	11	58722681	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	51745408	58722681	76283835	19	2773											
SCGB1D4	404552	genome.wustl.edu	37	chr11	62066450	62066450	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtagcagcaaagggccagCgagaccatcaggagacacac	13	11	1	2	rs377708746		TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:62066450C>G	ENST00000358585.1	-	1	86	c.33G>C	c.(31-33)tcG>tcC	p.S11S		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	11						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						AAAGGGCCAGCGAGACCATCA	0.537																																																	0								ENSG00000197745						171	120	137					11																	62066450		2202	4299	6501	SCGB1D4	SO:0001819	synonymous_variant	0			-	HGNC	AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"Secretoglobins"	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.33G>C	11.37:g.62066450C>G		Somatic	0	68	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	48	35.14	A1L4Q8	Silent	SNP	23	0	0	41	26.79	15	pfam_Secretoglobin,superfamily_Secretoglobin	p.S11	ENST00000358585.1	37	c.33	CCDS31583.1	11																																																																																			-	pfam_Secretoglobin		0.537	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D4	protein_coding	OTTHUMT00000394862.1	C	NM_206998	-		62066450	-1	no_errors	ENST00000358585	ensembl	human	known	74_37	silent	SNP	0.540	G	G	62066450	C	G	62066450	2	3	48	1	0	0	0	0	0	0	0	1	13906	755	27	4		4	SCGB1D4	11	62066450	Silent	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09	3343769	62066450	72940066	20	2774											
CNTN5	53942	genome.wustl.edu	37	chr11	99690376	99690376	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttccaaaaccagaccaCgatacagcagcccttcatta	6	13	1	1	rs12292659	byFrequency	TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:99690376C>T	ENST00000524871.1	+	4	447	c.157C>T	c.(157-159)Cga>Tga	p.R53*	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R53*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R53*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R53*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	53					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)		AACCAGACCACGATACAGCAG	0.428																																																	0								ENSG00000149972	C	stop/ARG,	827,2987		0,827,1080	115	115	115		157,	3	0.9	11	dbSNP_120	115	2016,6260		0,2016,2122	yes	stop-gained,intron	CNTN5	NM_014361.3,NM_175566.2	,	0,2843,3202	TT,TC,CC		24.3596,21.6833,23.5153	,	53/1101,	99690376	2843,9247	1907	4138	6045	CNTN5	SO:0001587	stop_gained	0			-	HGNC	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.157C>T	11.37:g.99690376C>T	ENSP00000435637:p.Arg53*	Somatic	0	24	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	44	18.52	10	69	20.69	18	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R53*	ENST00000524871.1	37	c.157	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456071	0.84209	0.216833	0.243596	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	.	.	.	5.06	2.96	0.34315	.	0.104565	0.37483	N	0.002068	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0077	0.47644	0.1446:0.7156:0.1398:0.0	rs12292659;rs12292659	.	.	.	X	53	.	ENSP00000279463:R53X	R	+	1	2	CNTN5	99195586	0.798000	0.28890	0.915000	0.36163	0.672000	0.39443	1.290000	0.33319	1.385000	0.46445	0.650000	0.86243	CGA	-	NULL		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	C	NM_014361	rs12292659		99690376	1	no_errors	ENST00000279463	ensembl	human	known	74_37	nonsense	SNP	0.982	T	T	99690376	C	T	99690376	4	4	48	1	0	0	0	0	0	1	0	0	3646	528	19	1	163	1	CNTN5	11	99690376	Nonsense_Mutation	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09	37623926	99690376	35316140	21	2775											
MMP1	4312	genome.wustl.edu	37	chr11	102666020	102666020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaggattttgggaacGtcctaaggaaaataaaatac	10	6	0	0	rs12282811	byFrequency	TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:102666020G>T	ENST00000315274.6	-	6	851	c.784C>A	c.(784-786)Cgt>Agt	p.R262S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	262	Metalloprotease.		R -> S (in dbSNP:rs12282811).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TTTTGGGAACGTCCTAAGGAA	0.413													G|||	6	0.00119808	0.003	0.0014	5008	,	,		21019	0.001		0	False		,,,				2504	0																0								ENSG00000196611	G	SER/ARG,SER/ARG	22,4384	29.9+/-59.1	0,22,2181	87	78	81		586,784	2.1	0.1	11	dbSNP_120	81	0,8598		0,0,4299	yes	missense,missense	MMP1	NM_001145938.1,NM_002421.3	110,110	0,22,6480	TT,TG,GG		0.0,0.4993,0.1692	benign,benign	196/404,262/470	102666020	22,12982	2203	4299	6502	MMP1	SO:0001583	missense	0			GMAF=0.0005	HGNC	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.784C>A	11.37:g.102666020G>T	ENSP00000322788:p.Arg262Ser	Somatic	0	9	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	7	68.18	P08156	Missense_Mutation	SNP	30	0	0	23	56.60	30	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.R262S	ENST00000315274.6	37	c.784	CCDS8322.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.807	-0.753376	0.03041	0.004993	0.0	ENSG00000196611	ENST00000315274	T	0.21543	2.0	6.03	2.08	0.27032	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.34650	-0.9820	9	0.36615	T	0.2	.	7.0656	0.25149	0.0989:0.1958:0.6059:0.0995	rs12282811;rs12282811	262	P03956	MMP1_HUMAN	S	262	ENSP00000322788:R262S	ENSP00000322788:R262S	R	-	1	0	MMP1	102171230	0.022000	0.18835	0.104000	0.21259	0.025000	0.11179	0.071000	0.14594	-0.056000	0.13221	-0.795000	0.03280	CGT	-	smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans		0.413	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	protein_coding	OTTHUMT00000109632.1	G	NM_002421	rs12282811		102666020	-1	no_errors	ENST00000315274	ensembl	human	known	74_37	missense	SNP	0.285	T	T	102666020	G	T	102666020	3	4	48	1	0	0	0	0	1	0	0	0	9650	1145	40	3	645	3	MMP1	11	102666020	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	2975644	102666020	32340496	22	2776											
OR8B2	26595	genome.wustl.edu	37	chr11	124253100	124253100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatttagaccgaaaagaGtgatcaagccaaggttgcct	11	7	1	4	rs71491826	byFrequency	TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:124253100G>A	ENST00000375013.2	-	1	158	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	47						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		ACCGAAAAGAGTGATCAAGCC	0.433																																																	0								ENSG00000204293						205	189	195					11																	124253100		2201	4299	6500	OR8B2	SO:0001583	missense	0			-	HGNC	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.140C>T	11.37:g.124253100G>A	ENSP00000364152:p.Thr47Ile	Somatic	0	43	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	64	14.67	Q8NGH2	Missense_Mutation	SNP	27	15.62	5	24	31.43	11	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T47I	ENST00000375013.2	37	c.140	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	g	4.976	0.181303	0.09495	.	.	ENSG00000204293	ENST00000375013	T	0.00995	5.46	4.2	-6.64	0.01801	GPCR, rhodopsin-like superfamily (1);	0.578377	0.16537	N	0.210134	T	0.00524	0.0017	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44682	-0.9312	10	0.09843	T	0.71	.	9.4235	0.38565	0.6255:0.1003:0.2741:0.0	.	47	Q96RD0	OR8B2_HUMAN	I	47	ENSP00000364152:T47I	ENSP00000364152:T47I	T	-	2	0	OR8B2	123758310	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.066000	0.11598	-1.389000	0.02090	0.400000	0.26472	ACT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	protein_coding	OTTHUMT00000387290.1	G	NM_001005468	rs71491826		124253100	-1	no_errors	ENST00000375013	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124253100	G	A	124253100	3	1	48	1	0	0	0	0	1	0	0	0	11229	1029	36	2	804	2	OR8B2	11	124253100	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	21587080	124253100	10753416	23	2777											
OR8A1	390275	genome.wustl.edu	37	chr11	124440664	124440664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttaacagttcttgtttctTacaccttcattctctccagc	4	13	4	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr11:124440664T>C	ENST00000284287.3	+	1	772	c.700T>C	c.(700-702)Tac>Cac	p.Y234H		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	234					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)			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)		TCTTGTTTCTTACACCTTCAT	0.498																																																	0								ENSG00000196119						113	109	110					11																	124440664		2201	4299	6500	OR8A1	SO:0001583	missense	0			-	HGNC	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.700T>C	11.37:g.124440664T>C	ENSP00000284287:p.Tyr234His	Somatic	0	44	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q6IEW7|Q96RC6	Missense_Mutation	SNP	32	0	0	35	0.00	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y234H	ENST00000284287.3	37	c.700	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553571	0.45487	.	.	ENSG00000196119	ENST00000284287	T	0.00515	6.87	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000749	T	0.03871	0.0109	H	0.97918	4.105	0.39209	D	0.96328	D	0.89917	1.0	D	0.97110	1.0	T	0.01909	-1.1249	10	0.87932	D	0	.	14.5791	0.68274	0.0:0.0:0.0:1.0	.	234	Q8NGG7	OR8A1_HUMAN	H	234	ENSP00000284287:Y234H	ENSP00000284287:Y234H	Y	+	1	0	OR8A1	123945874	0.995000	0.38212	0.996000	0.52242	0.241000	0.25554	3.647000	0.54403	2.098000	0.63641	0.528000	0.53228	TAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	protein_coding	OTTHUMT00000387062.1	T	NM_001005194	-		124440664	1	no_errors	ENST00000284287	ensembl	human	known	74_37	missense	SNP	0.995	C	C	124440664	T	C	124440664	3	2	48	1	0	0	0	0	1	0	0	0	11227	1754	61	5	702	5	OR8A1	11	124440664	Missense_Mutation	SNP	T	TCGA-DX-A3U7-01A-11D-A29N-09	187564	124440664	10565852	24	2778											
RPGRIP1	57096	genome.wustl.edu	37	chr14	21789428	21789428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctacagccaagtgaacCcaaaaaccaagaagaaaaga	6	12	1	4			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr14:21789428C>T	ENST00000400017.2	+	12	1478	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P135L|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.P493L|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P466L|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P466L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	493					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCAAGTGAACCCAAAAACCAA	0.398																																																	0								ENSG00000092200						76	69	71					14																	21789428		1860	4096	5956	RPGRIP1	SO:0001583	missense	0			-	HGNC	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1478C>T	14.37:g.21789428C>T	ENSP00000382895:p.Pro493Leu	Somatic	0	57	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	112	15.79	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	37	0	0	61	30.68	27	pfam_DUF3250,superfamily_C2_dom	p.P493L	ENST00000400017.2	37	c.1478	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386919	0.25031	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.74106	-0.02;-0.79;-0.81;-0.81;-0.35	5.12	3.23	0.37069	.	0.378663	0.27778	N	0.017900	T	0.64735	0.2625	M	0.72118	2.19	0.18873	N	0.999988	B;P;P	0.39282	0.004;0.666;0.544	B;B;B	0.33454	0.018;0.164;0.122	T	0.57236	-0.7846	10	0.31617	T	0.26	-0.0875	5.5397	0.17031	0.3926:0.5147:0.0:0.0927	.	135;109;493	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	L	466;466;493;493;135;160	ENSP00000450445:P466L;ENSP00000451219:P466L;ENSP00000382895:P493L;ENSP00000206660:P493L;ENSP00000372391:P135L	ENSP00000206660:P493L	P	+	2	0	RPGRIP1	20859268	0.007000	0.16637	0.172000	0.22920	0.043000	0.13939	0.078000	0.14761	1.451000	0.47736	0.650000	0.86243	CCC	-	NULL		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	protein_coding	OTTHUMT00000410258.1	C	NM_020366	-		21789428	1	no_errors	ENST00000206660	ensembl	human	known	74_37	missense	SNP	0.030	T	T	21789428	C	T	21789428	3	4	48	1	0	0	0	0	1	0	0	0	13557	623	22	2	1524	2	RPGRIP1	14	21789428	Missense_Mutation	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09		21789428	85560112	25	2779											
ZFP106	64397	genome.wustl.edu	37	chr15	42727686	42727686	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagttaactttggaggtatGaccctcaaagacaccaatac	8	10	1	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr15:42727686G>T	ENST00000263805.4	-	11	5034	c.4708C>A	c.(4708-4710)Cat>Aat	p.H1570N	ZNF106_ENST00000565380.1_Missense_Mutation_p.H798N|ZNF106_ENST00000565611.1_Missense_Mutation_p.H755N	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1570					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTGGAGGTATGACCCTCAAAG	0.428																																																	0								ENSG00000103994						140	132	135					15																	42727686		2203	4299	6502	ZNF106	SO:0001583	missense	0			-	HGNC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4708C>A	15.37:g.42727686G>T	ENSP00000263805:p.His1570Asn	Somatic	0	33	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	31	50.79	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	36	0	0	32	53.62	37	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1570N	ENST00000263805.4	37	c.4708	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434958	0.83885	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.81078	-1.45	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051473	0.85682	D	0.000000	D	0.93409	0.7898	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.91635	0.98;0.999;0.995	D	0.95556	0.8625	10	0.87932	D	0	-15.3849	18.191	0.89807	0.0:0.0:1.0:0.0	.	798;1570;798	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	N	1570;798	ENSP00000263805:H1570N	ENSP00000263805:H1570N	H	-	1	0	ZFP106	40514978	1.000000	0.71417	0.990000	0.47175	0.798000	0.45092	9.069000	0.93967	2.524000	0.85096	0.655000	0.94253	CAT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.428	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	protein_coding	OTTHUMT00000422587.1	G	NM_022473	-		42727686	-1	no_errors	ENST00000263805	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42727686	G	T	42727686	3	4	48	1	0	0	0	0	1	0	0	0	17644	1290	45	3	979	3	ZFP106	15	42727686	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		42727686	59803706	26	2780											
UNC13C	440279	genome.wustl.edu	37	chr15	54542514	54542514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtctggacggctaccaCacccacctactgttatgagt	10	12	1	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr15:54542514C>T	ENST00000260323.11	+	7	3320	c.3320C>T	c.(3319-3321)aCa>aTa	p.T1107I	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1105I|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1107I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1107					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACGGCTACCACACCCACCTAC	0.498																																																	0								ENSG00000137766						109	104	106					15																	54542514		2109	4266	6375	UNC13C	SO:0001583	missense	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3320C>T	15.37:g.54542514C>T	ENSP00000260323:p.Thr1107Ile	Somatic	0	58	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	71	28.28	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	37	0	0	43	24.56	14	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T1107I	ENST00000260323.11	37	c.3320	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897670	0.72639	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92965	-3.14;-3.14;-3.14	5.56	5.56	0.83823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.167509	0.52532	D	0.000065	D	0.90310	0.6969	L	0.45581	1.43	0.47778	D	0.999517	B	0.24043	0.096	B	0.24701	0.055	D	0.87559	0.2470	10	0.87932	D	0	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	1107	Q8NB66	UN13C_HUMAN	I	1107;1107;1105	ENSP00000260323:T1107I;ENSP00000438156:T1107I;ENSP00000442569:T1105I	ENSP00000260323:T1107I	T	+	2	0	UNC13C	52329806	1.000000	0.71417	0.686000	0.30086	0.993000	0.82548	7.800000	0.85949	2.626000	0.88956	0.650000	0.86243	ACA	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.498	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166	-		54542514	1	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	SNP	0.911	T	T	54542514	C	T	54542514	3	4	48	1	0	0	0	0	1	0	0	0	16993	478	17	2	3342	2	UNC13C	15	54542514	Missense_Mutation	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09	11814828	54542514	47988878	27	2781											
VPS13C	54832	genome.wustl.edu	37	chr15	62261524	62261524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgataatccaagctgAttttctttaaataagatacc	4	7	2	3			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr15:62261524A>C	ENST00000261517.5	-	28	2958	c.2885T>G	c.(2884-2886)aTc>aGc	p.I962S	VPS13C_ENST00000249837.3_Missense_Mutation_p.I919S|VPS13C_ENST00000395896.4_Missense_Mutation_p.I962S|VPS13C_ENST00000395898.3_Missense_Mutation_p.I919S	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						ATCCAAGCTGATTTTCTTTAA	0.289																																																	0								ENSG00000129003						59	56	57					15																	62261524		2198	4286	6484	VPS13C	SO:0001583	missense	0			-	HGNC	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.2885T>G	15.37:g.62261524A>C	ENSP00000261517:p.Ile962Ser	Somatic	0	39	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	37	52.56		Missense_Mutation	SNP	26	0	0	36	55.95	47	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.I962S	ENST00000261517.5	37	c.2885	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184215	0.78677	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.21031	2.03;2.03;2.03	4.91	4.91	0.64330	.	0.076259	0.52532	D	0.000070	T	0.46288	0.1385	M	0.77103	2.36	0.58432	D	0.999995	D;D;D;D	0.69078	0.996;0.996;0.997;0.984	D;P;D;P	0.65874	0.918;0.9;0.939;0.899	T	0.51593	-0.8686	10	0.72032	D	0.01	.	14.8396	0.70214	1.0:0.0:0.0:0.0	.	919;962;919;962	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	919;962;962;962	ENSP00000249837:I919S;ENSP00000261517:I962S;ENSP00000379233:I962S	ENSP00000249837:I919S	I	-	2	0	VPS13C	60048816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.538000	0.82048	1.963000	0.57068	0.459000	0.35465	ATC	-	NULL		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	A	NM_017684	-		62261524	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62261524	A	C	62261524	3	2	48	1	0	0	0	0	1	0	0	0	17198	333	12	5	8636	5	VPS13C	15	62261524	Missense_Mutation	SNP	A	TCGA-DX-A3U7-01A-11D-A29N-09	7719010	62261524	40269868	28	2782											
ADAMTS17	170691	genome.wustl.edu	37	chr15	100516423	100516423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccttcccgcaggtcgacGagcactgcagagacaggaca	13	14	0	1			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr15:100516423G>A	ENST00000268070.4	-	21	3059	c.2954C>T	c.(2953-2955)tCg>tTg	p.S985L	CTD-3076O17.1_ENST00000528696.3_RNA|CTD-3076O17.2_ENST00000559400.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	985	TSP type-1 5. {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)		GCAGGTCGACGAGCACTGCAG	0.652																																																	0								ENSG00000140470						22	20	20					15																	100516423		1994	3824	5818	ADAMTS17	SO:0001583	missense	0			-	HGNC	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.2954C>T	15.37:g.100516423G>A	ENSP00000268070:p.Ser985Leu	Somatic	0	23	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	55	47.62	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	26	0	0	58	48.25	55	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S985L	ENST00000268070.4	37	c.2954	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062262	0.76187	.	.	ENSG00000140470	ENST00000268070	T	0.68479	-0.33	5.14	5.14	0.70334	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000004	D	0.85630	0.5741	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86371	0.1723	10	0.37606	T	0.19	.	18.9544	0.92653	0.0:0.0:1.0:0.0	.	985	Q8TE56	ATS17_HUMAN	L	985	ENSP00000268070:S985L	ENSP00000268070:S985L	S	-	2	0	ADAMTS17	98333946	1.000000	0.71417	0.950000	0.38849	0.246000	0.25737	9.187000	0.94912	2.528000	0.85240	0.563000	0.77884	TCG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.652	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	G	NM_139057	-		100516423	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100516423	G	A	100516423	3	1	48	1	0	0	0	0	1	0	0	0	262	1059	37	1	341	1	ADAMTS17	15	100516423	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	38254899	100516423	2014969	29	2783											
COLEC12	81035	genome.wustl.edu	37	chr18	357461	357461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaaaatgtataataatatGatagaaaacttcagtgccca	5	7	1	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr18:357461G>C	ENST00000400256.3	-	3	327	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	40					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ATAATAATATGATAGAAAACT	0.318																																																	0								ENSG00000158270						119	116	117					18																	357461		2203	4298	6501	COLEC12	SO:0001583	missense	0			-	HGNC	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.120C>G	18.37:g.357461G>C	ENSP00000383115:p.Ile40Met	Somatic	0	29	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	65	24.42	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	26	0	0	100	13.04	15	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.I40M	ENST00000400256.3	37	c.120	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461353	0.26248	.	.	ENSG00000158270	ENST00000400256	D	0.91237	-2.81	5.89	5.01	0.66863	.	0.044947	0.85682	D	0.000000	D	0.90338	0.6977	L	0.34521	1.04	0.48040	D	0.999574	P	0.50710	0.938	P	0.54499	0.754	D	0.91340	0.5096	10	0.87932	D	0	-21.7678	14.1462	0.65351	0.0726:0.0:0.9274:0.0	.	40	Q5KU26	COL12_HUMAN	M	40	ENSP00000383115:I40M	ENSP00000383115:I40M	I	-	3	3	COLEC12	347461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.876000	0.48498	1.463000	0.47967	0.655000	0.94253	ATC	-	NULL		0.318	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	protein_coding	OTTHUMT00000440746.1	G		-		357461	-1	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	SNP	1.000	C	C	357461	G	C	357461	3	2	48	1	0	0	0	0	1	0	0	0	3714	1280	45	4	2140	4	COLEC12	18	357461	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		357461	77719787	30	2784											
OR7E24	26648	genome.wustl.edu	37	chr19	9362102	9362102	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcctttttgcatgtaTggatgacatgctcctgagtg	10	7	0	2			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr19:9362102T>A	ENST00000456448.1	+	1	497	c.383T>A	c.(382-384)aTg>aAg	p.M128K		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	128						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(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTTGCATGTATGGATGACATG	0.502																																																	0								ENSG00000237521						114	115	115					19																	9362102		2198	4298	6496	OR7E24	SO:0001583	missense	0			-	HGNC	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.383T>A	19.37:g.9362102T>A	ENSP00000387523:p.Met128Lys	Somatic	1	106	0.93		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	98	38.36	B9EJD9|Q9UPJ1	Missense_Mutation	SNP	26	0	0	39	40.91	27	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M128K	ENST00000456448.1	37	c.383	CCDS45955.1	19	.	.	.	.	.	.	.	.	.	.	t	12.55	1.970973	0.34754	.	.	ENSG00000237521	ENST00000456448	T	0.00848	5.62	2.39	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01940	0.0061	M	0.78916	2.43	0.09310	N	1	P	0.36683	0.565	B	0.41088	0.347	T	0.36696	-0.9737	9	0.87932	D	0	.	4.803	0.13307	0.0:0.2584:0.0:0.7416	.	128	Q6IFN5	O7E24_HUMAN	K	128	ENSP00000387523:M128K	ENSP00000387523:M128K	M	+	2	0	OR7E24	9223102	0.001000	0.12720	0.016000	0.15963	0.006000	0.05464	0.306000	0.19279	1.112000	0.41740	0.358000	0.22013	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	protein_coding	OTTHUMT00000449006.1	T		-		9362102	1	no_errors	ENST00000456448	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9362102	T	A	9362102	3	1	48	1	0	0	0	0	1	0	0	0	11223	1464	51	5	385	5	OR7E24	19	9362102	Missense_Mutation	SNP	T	TCGA-DX-A3U7-01A-11D-A29N-09		9362102	49766881	31	2785											
C19orf57	79173	genome.wustl.edu	37	chr19	14000051	14000051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagggcatcctgtatctGgctgtccagcaggaagtcga	13	11	1	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr19:14000051G>A	ENST00000586783.1	-	5	1617	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Nonsense_Mutation_p.Q540*|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.Q540*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	540					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCCTGTATCTGGCTGTCCAGC	0.612																																																	0								ENSG00000132016						41	42	42					19																	14000051		2203	4300	6503	C19orf57	SO:0001587	stop_gained	0			-	HGNC	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1618C>T	19.37:g.14000051G>A	ENSP00000465822:p.Gln540*	Somatic	0	48	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	68	17.07	Q13411|Q8N825|Q96D63|Q9BU49	Nonsense_Mutation	SNP	24	0	0	42	23.64	13	NULL	p.Q540*	ENST00000586783.1	37	c.1618		19	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651655	0.67472	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	.	.	.	4.99	2.8	0.32819	.	0.567257	0.14807	N	0.297256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.7456	11.5729	0.50845	0.0:0.3478:0.6522:0.0	.	.	.	.	X	540	.	ENSP00000254336:Q540X	Q	-	1	0	C19orf57	13861051	1.000000	0.71417	0.715000	0.30552	0.018000	0.09664	2.069000	0.41481	0.665000	0.31066	-0.196000	0.12772	CAG	-	NULL		0.612	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	protein_coding	OTTHUMT00000457947.1	G	NM_024323	-		14000051	-1	no_errors	ENST00000454313	ensembl	human	known	74_37	nonsense	SNP	0.896	A	A	14000051	G	A	14000051	4	1	48	1	0	0	0	0	0	1	0	0	1941	1357	47	2	307	2	C19orf57	19	14000051	Nonsense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	4637949	14000051	45128932	32	2786											
IRGC	56269	genome.wustl.edu	37	chr19	44223484	44223484	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgctggaggccttgcagaaGaagaaggccatgcttcaaga	13	9	1	4			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr19:44223484G>C	ENST00000244314.5	+	2	973	c.774G>C	c.(772-774)aaG>aaC	p.K258N		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	258						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCTTGCAGAAGAAGAAGGCCA	0.667																																					Colon(189;350 2037 11447 13433 38914)												0								ENSG00000124449						39	35	36					19																	44223484		2203	4300	6503	IRGC	SO:0001583	missense	0			-	HGNC	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.774G>C	19.37:g.44223484G>C	ENSP00000244314:p.Lys258Asn	Somatic	0	22	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	13	75.93	Q05BR8	Missense_Mutation	SNP	18	0	0	11	81.97	50	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	p.K258N	ENST00000244314.5	37	c.774	CCDS12629.1	19	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835168	0.71373	.	.	ENSG00000124449	ENST00000244314	T	0.10860	2.83	5.23	5.23	0.72850	.	0.061993	0.64402	D	0.000007	T	0.15262	0.0368	L	0.47190	1.495	0.51012	D	0.999902	P	0.38335	0.627	P	0.46172	0.506	T	0.01496	-1.1340	10	0.40728	T	0.16	.	9.8483	0.41041	0.0934:0.0:0.9066:0.0	.	258	Q6NXR0	IIGP5_HUMAN	N	258	ENSP00000244314:K258N	ENSP00000244314:K258N	K	+	3	2	IRGC	48915324	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.089000	0.41672	2.440000	0.82611	0.655000	0.94253	AAG	-	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase		0.667	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	protein_coding	OTTHUMT00000336191.1	G	NM_019612	-		44223484	1	no_errors	ENST00000244314	ensembl	human	known	74_37	missense	SNP	1.000	C	C	44223484	G	C	44223484	3	2	48	1	0	0	0	0	1	0	0	0	7840	933	33	4	776	4	IRGC	19	44223484	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	30223433	44223484	14905499	33	2787											
SLC8A2	6543	genome.wustl.edu	37	chr19	47941209	47941209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcctcctcctcggctGttagcttcctgtccccatcc	7	19	0	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr19:47941209G>C	ENST00000236877.6	-	7	2302	c.1907C>G	c.(1906-1908)aCa>aGa	p.T636R	SLC8A2_ENST00000542837.1_Missense_Mutation_p.T392R|SLC8A2_ENST00000539381.1_Missense_Mutation_p.T99R|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	636					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCCTCGGCTGTTAGCTTCCT	0.572																																																	0								ENSG00000118160						103	102	102					19																	47941209		2203	4300	6503	SLC8A2	SO:0001583	missense	0			-	HGNC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1907C>G	19.37:g.47941209G>C	ENSP00000236877:p.Thr636Arg	Somatic	0	22	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	3	80.00	B4DYQ9	Missense_Mutation	SNP	30	0	0	2	89.47	17	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.T636R	ENST00000236877.6	37	c.1907	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088396	0.20390	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.28454	1.61;1.61;1.61	2.54	2.54	0.30619	.	0.160513	0.40554	U	0.001074	T	0.31263	0.0791	M	0.75447	2.3	0.38017	D	0.934733	P;P	0.46142	0.873;0.513	B;B	0.36959	0.237;0.137	T	0.53872	-0.8377	10	0.62326	D	0.03	.	12.953	0.58411	0.0:0.0:1.0:0.0	.	464;636	E9PGS7;Q9UPR5	.;NAC2_HUMAN	R	464;636;99;392	ENSP00000236877:T636R;ENSP00000440588:T99R;ENSP00000437536:T392R	ENSP00000236877:T636R	T	-	2	0	SLC8A2	52633021	0.082000	0.21442	0.814000	0.32528	0.658000	0.38924	2.816000	0.48026	1.751000	0.51876	0.456000	0.33151	ACA	-	tigrfam_Na_Ca_Ex		0.572	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	protein_coding	OTTHUMT00000466997.1	G		-		47941209	-1	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	SNP	0.924	C	C	47941209	G	C	47941209	3	2	48	1	0	0	0	0	1	0	0	0	14715	1377	48	4	874	4	SLC8A2	19	47941209	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09	3717725	47941209	11187774	34	2788											
CGB8	94115	genome.wustl.edu	37	chr19	49551016	49551016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagtcctggaagcgggggtCatcacaggtcaaggggtggt	19	7	3	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr19:49551016C>T	ENST00000448456.3	-	3	760	c.394G>A	c.(394-396)Gac>Aac	p.D132N	CGB8_ENST00000355414.2_Missense_Mutation_p.D130N|CGB1_ENST00000391869.3_Intron	NM_033183.2	NP_149439.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8	132					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AAGCGGGGGTCATCACAGGTC	0.662																																																	0								ENSG00000213030						1	1	1					19																	49551016		287	814	1101	CGB8	SO:0001583	missense	0			-	HGNC	BG435249	CCDS12753.1	19q13.32	2011-05-26							16453	protein-coding gene	gene with protein product		608827				6194155	Standard	NM_033183		Approved		uc002pmb.4	P01233		ENST00000448456.3:c.394G>A	19.37:g.49551016C>T	ENSP00000403649:p.Asp132Asn	Somatic	0	17	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	6	72.73	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	6	0	0	2	80.00	8	pfam_Cys_knot,smart_Gonadotropin_bsu	p.D132N	ENST00000448456.3	37	c.394	CCDS12753.1	19	.	.	.	.	.	.	.	.	.	.	c	7.229	0.599021	0.13939	.	.	ENSG00000213030	ENST00000448456;ENST00000355414	T;T	0.39056	1.1;1.1	1.34	-2.68	0.06041	.	1.451340	0.04141	N	0.319616	T	0.14141	0.0342	N	0.02916	-0.46	0.20074	N	0.999936	.	.	.	.	.	.	T	0.21861	-1.0233	8	0.02654	T	1	-0.4209	3.1709	0.06551	0.0:0.2986:0.4199:0.2815	.	.	.	.	N	132;130	ENSP00000403649:D132N;ENSP00000347582:D130N	ENSP00000347582:D130N	D	-	1	0	CGB1	54242828	0.024000	0.19004	0.122000	0.21767	0.118000	0.20060	-0.387000	0.07361	-0.379000	0.07906	0.194000	0.17425	GAC	-	NULL		0.662	CGB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGB8	protein_coding	OTTHUMT00000452168.1	C	NM_033183	-		49551016	-1	no_errors	ENST00000448456	ensembl	human	known	74_37	missense	SNP	0.915	T	T	49551016	C	T	49551016	3	4	48	1	0	0	0	0	1	0	0	0	3303	826	29	2	107	2	CGB8	19	49551016	Missense_Mutation	SNP	C	TCGA-DX-A3U7-01A-11D-A29N-09	1609807	49551016	9577967	35	2789											
COL18A1	80781	genome.wustl.edu	37	chr21	46888236	46888236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacccagacggatgaccccGacgtcgggctggcctacgtc	12	16	1	2	rs377002382		TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr21:46888236G>A	ENST00000359759.4	+	2	1453	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	COL18A1_ENST00000400337.2_Missense_Mutation_p.D63N|COL18A1_ENST00000355480.5_Missense_Mutation_p.D243N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	478	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGATGACCCCGACGTCGGGCT	0.627													G|||	1	0.000199681	0	0	5008	,	,		17164	0.001		0	False		,,,				2504	0																0								ENSG00000182871	G	ASN/ASP,ASN/ASP	0,3970		0,0,1985	51	59	56		187,727	2.9	0.4	21		56	2,8304		0,2,4151	no	missense,missense	COL18A1	NM_130445.2,NM_030582.3	23,23	0,2,6136	AA,AG,GG		0.0241,0.0,0.0163	benign,benign	63/1340,243/1520	46888236	2,12274	1985	4153	6138	COL18A1	SO:0001583	missense	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1432G>A	21.37:g.46888236G>A	ENSP00000352798:p.Asp478Asn	Somatic	0	49	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	23	0	0	39	22.00	11	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.D478N	ENST00000359759.4	37	c.1432		21	.	.	.	.	.	.	.	.	.	.	G	9.365	1.069021	0.20147	0.0	2.41E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02280	4.36;4.36;4.36	4.79	2.93	0.34026	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.755390	0.12396	N	0.472587	T	0.03011	0.0089	M	0.61703	1.905	0.29345	N	0.865753	B;B;B	0.33494	0.291;0.414;0.414	B;B;B	0.18263	0.014;0.021;0.021	T	0.19811	-1.0294	10	0.62326	D	0.03	.	8.7566	0.34650	0.0861:0.1583:0.7556:0.0	.	478;243;63	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	63;63;243;478;478	ENSP00000383191:D63N;ENSP00000347665:D243N;ENSP00000352798:D478N	ENSP00000347665:D243N	D	+	1	0	COL18A1	45712664	0.997000	0.39634	0.397000	0.26308	0.019000	0.09904	2.758000	0.47565	0.524000	0.28502	0.655000	0.94253	GAC	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.627	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	G		-		46888236	1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	SNP	0.975	A	A	46888236	G	A	46888236	3	1	48	1	0	0	0	0	1	0	0	0	3677	1058	37	1	1552	1	COL18A1	21	46888236	Missense_Mutation	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		46888236	1241659	36	2790											
CCDC157	550631	genome.wustl.edu	37	chr22	30768185	30768185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgttggtgggtcgGctggagggcgctggccagca	20	9	0	0			TCGA-DX-A3U7-01A-11D-A29N-09	TCGA-DX-A3U7-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7b51fb-2249-451a-bf23-bb2a3d935928	d4b86f75-b56f-404f-b88d-20adf47e17dd	g.chr22:30768185G>A	ENST00000405659.1	+	7	1954	c.1245G>A	c.(1243-1245)cgG>cgA	p.R415R	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.R415R			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	415										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGGTGGGTCGGCTGGAGGGCG	0.682																																																	0								ENSG00000187860						15	16	16					22																	30768185		2184	4284	6468	CCDC157	SO:0001819	synonymous_variant	0			-	HGNC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1245G>A	22.37:g.30768185G>A		Somatic	0	71	0		0.661420721242374				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	35	47.76	Q0VD76|Q9BYA4	Silent	SNP	13	0	0	10	62.96	17	superfamily_Prefoldin,superfamily_t-SNARE	p.R415	ENST00000405659.1	37	c.1245	CCDS33632.2	22																																																																																			-	NULL		0.682	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	protein_coding	OTTHUMT00000320936.1	G	NM_001017437	-		30768185	1	no_errors	ENST00000338306	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30768185	G	A	30768185	2	1	48	1	0	0	0	0	0	0	0	1	2791	1190	42	2		2	CCDC157	22	30768185	Silent	SNP	G	TCGA-DX-A3U7-01A-11D-A29N-09		30768185	20536381	37	2791											
GPR88	54112	genome.wustl.edu	37	chr1	101004644	101004644	+	Frame_Shift_Del	DEL	T	T	-													gtcactcctgtattcgggccTggccatcgggggcacgctgg							TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr1:101004644delT	ENST00000315033.4	+	2	561	c.122delT	c.(121-123)ctgfs	p.L41fs		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	41					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)		TATTCGGGCCTGGCCATCGGG	0.652																																																	0								ENSG00000181656						39	34	36					1																	101004644		2201	4299	6500	GPR88	SO:0001589	frameshift_variant	0				HGNC	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.122delT	1.37:g.101004644delT	ENSP00000314223:p.Leu41fs	Somatic	0	40	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q29S24|Q6VN48	Frame_Shift_Del	DEL	14	0	0	41	0.00	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L41fs	ENST00000315033.4	37	c.122	CCDS772.1	1																																																																																			-	prints_GPCR_Rhodpsn		0.652	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR88	protein_coding	OTTHUMT00000030212.1	T	NM_022049			101004644	1	no_errors	ENST00000315033	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	101004644	T	-	101004644	7	5	49	1	0	1	0	1	0	0	0	0	6719	1580	55	0	124	0	GPR88	1	101004644	Frame_Shift_Del	DEL	T	TCGA-DX-A3U8-01A-11D-A29N-09		101004644	148245977	1	2792											
HSD3B2	3284	genome.wustl.edu	37	chr1	119964751	119964751	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggccctgaacaacaatggGatcctgtcaagtgttggaaa	12	8	1	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr1:119964751G>T	ENST00000543831.1	+	4	876	c.627G>T	c.(625-627)ggG>ggT	p.G209G	HSD3B2_ENST00000369416.3_Silent_p.G209G	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	209					androgen biosynthetic process (GO:0006702)|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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	ACAACAATGGGATCCTGTCAA	0.512																																																	0								ENSG00000203859						76	74	75					1																	119964751		2203	4300	6503	HSD3B2	SO:0001819	synonymous_variant	0			-	HGNC	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.627G>T	1.37:g.119964751G>T		Somatic	0	64	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	58	17.14	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	32	0	0	35	16.67	7	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.G209	ENST00000543831.1	37	c.627	CCDS902.1	1																																																																																			-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct		0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	protein_coding	OTTHUMT00000034994.1	G	NM_000198	-		119964751	1	no_errors	ENST00000369416	ensembl	human	known	74_37	silent	SNP	0.020	T	T	119964751	G	T	119964751	2	4	49	1	0	0	0	0	0	0	0	1	7393	1161	41	3		3	HSD3B2	1	119964751	Silent	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	18960107	119964751	129285870	2	2793											
RNASEL	6041	genome.wustl.edu	37	chr1	182544665	182544665	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatagatcaccagatctggAaatgtcttctgaaaatacag	7	8	4	3			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr1:182544665A>G	ENST00000367559.3	-	7	2341	c.2088T>C	c.(2086-2088)ttT>ttC	p.F696F	RNASEL_ENST00000444138.1_Silent_p.F696F	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	696	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCAGATCTGGAAATGTCTTCT	0.398																																																	0								ENSG00000135828						115	108	110					1																	182544665		2203	4300	6503	RNASEL	SO:0001819	synonymous_variant	0			-	HGNC	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2088T>C	1.37:g.182544665A>G		Somatic	0	88	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	69	18.82	Q5W0L2|Q6AI46	Silent	SNP	45	0	0	53	25.35	18	pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.F696	ENST00000367559.3	37	c.2088	CCDS1347.1	1																																																																																			-	pfam_KEN_dom,smart_PUG-dom		0.398	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	protein_coding	OTTHUMT00000085189.1	A	NM_021133	-		182544665	-1	no_errors	ENST00000367559	ensembl	human	known	74_37	silent	SNP	1.000	G	G	182544665	A	G	182544665	2	3	49	1	0	0	0	0	0	0	0	1	13424	243	9	5		5	RNASEL	1	182544665	Silent	SNP	A	TCGA-DX-A3U8-01A-11D-A29N-09	62579914	182544665	66705956	3	2794											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200817855	200817855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttcaggattatgatattcGaactggcaacaccagggaag	10	8	2	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr1:200817855G>T	ENST00000236925.4	+	12	2040	c.1991G>T	c.(1990-1992)cGa>cTa	p.R664L	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R637L|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R653L			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	664					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TATGATATTCGAACTGGCAAC	0.423																																																	0								ENSG00000118200						92	93	92					1																	200817855		2203	4300	6503	CAMSAP2	SO:0001583	missense	0			-	HGNC	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1991G>T	1.37:g.200817855G>T	ENSP00000236925:p.Arg664Leu	Somatic	0	33	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	26	0	0	67	0.00	0	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R664L	ENST00000236925.4	37	c.1991		1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727239	0.30593	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.41758	0.99;0.99;0.99	5.55	5.55	0.83447	.	0.067711	0.56097	D	0.000023	T	0.34048	0.0884	L	0.46157	1.445	0.19575	N	0.999966	P;P;P	0.42620	0.785;0.678;0.785	B;B;B	0.34991	0.193;0.137;0.193	T	0.43343	-0.9397	10	0.51188	T	0.08	-17.2662	12.8033	0.57598	0.0746:0.0:0.9254:0.0	.	637;664;653	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	L	653;637;664	ENSP00000351684:R653L;ENSP00000416800:R637L;ENSP00000236925:R664L	ENSP00000236925:R664L	R	+	2	0	CAMSAP1L1	199084478	0.451000	0.25705	0.008000	0.14137	0.699000	0.40488	3.529000	0.53532	2.597000	0.87782	0.655000	0.94253	CGA	-	NULL		0.423	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	protein_coding	OTTHUMT00000086956.2	G	NM_203459	-		200817855	1	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	SNP	0.071	T	T	200817855	G	T	200817855	3	4	49	1	0	0	0	0	1	0	0	0	2614	1058	37	3	2000	3	CAMSAP1L1	1	200817855	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	18273190	200817855	48432766	4	2795											
TRIM11	81559	genome.wustl.edu	37	chr1	228582509	228582509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggggccgcagcgtccccGagaaggggatctcgggaaag	18	10	1	2			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr1:228582509G>A	ENST00000284551.6	-	6	1582	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.S310L	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	435	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CAGCGTCCCCGAGAAGGGGAT	0.627																																																	0								ENSG00000154370						54	61	59					1																	228582509		2203	4300	6503	TRIM11	SO:0001583	missense	0			-	HGNC	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1304C>T	1.37:g.228582509G>A	ENSP00000284551:p.Ser435Leu	Somatic	0	23	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	23	0	0	34	30.61	15	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S435L	ENST00000284551.6	37	c.1304	CCDS31048.1	1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739873	0.49045	.	.	ENSG00000154370	ENST00000284551	T	0.63417	-0.04	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.44688	D	0.000433	T	0.74794	0.3763	M	0.75264	2.295	0.80722	D	1	P;D	0.69078	0.951;0.997	B;P	0.57846	0.222;0.828	T	0.78114	-0.2330	10	0.56958	D	0.05	.	15.6526	0.77110	0.0:0.0:1.0:0.0	.	434;435	Q96F44-3;Q96F44	.;TRI11_HUMAN	L	435	ENSP00000284551:S435L	ENSP00000284551:S435L	S	-	2	0	TRIM11	226649132	0.994000	0.37717	0.938000	0.37757	0.058000	0.15608	3.032000	0.49736	2.370000	0.80446	0.609000	0.83330	TCG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.627	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	protein_coding	OTTHUMT00000095995.3	G	NM_145214	-		228582509	-1	no_errors	ENST00000284551	ensembl	human	known	74_37	missense	SNP	0.966	A	A	228582509	G	A	228582509	3	1	49	1	0	0	0	0	1	0	0	0	16494	1059	37	1	106	1	TRIM11	1	228582509	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	27764654	228582509	20668112	5	2796											
ERBB4	2066	genome.wustl.edu	37	chr2	212522509	212522509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaaagtggaatggcccGtccatgggtagtaaatgcag	15	6	0	0	rs532377012		TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr2:212522509G>A	ENST00000342788.4	-	16	2226	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M	ERBB4_ENST00000436443.1_Missense_Mutation_p.T639M|ERBB4_ENST00000402597.1_Intron	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	639					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGAATGGCCCGTCCATGGGTA	0.428										TSP Lung(8;0.080)			G|||	0	0	0	0	5008	,	,		17193	0		0	False		,,,				2504	0																0								ENSG00000178568						272	212	233					2																	212522509		2203	4300	6503	ERBB4	SO:0001583	missense	0			-	HGNC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1916C>T	2.37:g.212522509G>A	ENSP00000342235:p.Thr639Met	Somatic	0	58	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	67	17.28	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	22	4.35	1	36	34.55	19	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T639M	ENST00000342788.4	37	c.1916	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605524	0.46527	.	.	ENSG00000178568	ENST00000342788;ENST00000436443	T;T	0.76186	-1.0;-1.0	5.14	4.25	0.50352	.	0.295154	0.37053	N	0.002267	T	0.51092	0.1654	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.18968	0.032;0.018;0.011	B;B;B	0.08055	0.003;0.001;0.001	T	0.53070	-0.8490	10	0.62326	D	0.03	.	8.4722	0.32993	0.0778:0.0:0.7684:0.1539	.	498;639;639	Q53QS8;Q15303-3;Q15303	.;.;ERBB4_HUMAN	M	639	ENSP00000342235:T639M;ENSP00000403204:T639M	ENSP00000342235:T639M	T	-	2	0	ERBB4	212230754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.103000	0.57783	2.557000	0.86248	0.650000	0.86243	ACG	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,smart_Furin_repeat		0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	protein_coding	OTTHUMT00000256597.1	G	NM_001042599	-		212522509	-1	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	SNP	1.000	A	A	212522509	G	A	212522509	3	1	49	1	0	0	0	0	1	0	0	0	5211	1145	40	1	2062	1	ERBB4	2	212522509	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		212522509	30676864	6	2797											
IQCA1	79781	genome.wustl.edu	37	chr2	237247013	237247013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggtgttttttcaggcGtttaggttcattctgggaga	15	4	3	1	rs186626813	byFrequency	TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr2:237247013G>A	ENST00000409907.3	-	17	2243	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	IQCA1_ENST00000431676.2_Missense_Mutation_p.R616C|IQCA1_ENST00000309507.5_Missense_Mutation_p.R654C	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	657							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTTTCAGGCGTTTAGGTTCA	0.413													G|||	14	0.00279553	0	0	5008	,	,		17507	0.0129		0	False		,,,				2504	0.001																0								ENSG00000132321	G	CYS/ARG	0,3606		0,0,1803	109	108	108		1969	5.5	1	2		108	2,8142		0,2,4070	yes	missense	IQCA1	NM_024726.3	180	0,2,5873	AA,AG,GG		0.0246,0.0,0.017	probably-damaging	657/823	237247013	2,11748	1803	4072	5875	IQCA1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1969C>T	2.37:g.237247013G>A	ENSP00000387347:p.Arg657Cys	Somatic	0	41	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	46	0	0	45	15.09	8	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.R657C	ENST00000409907.3	37	c.1969	CCDS46549.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.5	4.160662	0.78226	0.0	2.46E-4	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;D	0.94138	-3.36;-3.36;-3.36	5.47	5.47	0.80525	ATPase, AAA-type, core (1);	0.000000	0.64402	D	0.000003	D	0.97974	0.9333	H	0.96015	3.755	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	0.99072	1.0834	10	0.87932	D	0	.	18.9625	0.92681	0.0:0.0:1.0:0.0	.	616;665;657	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	C	657;665;654;616	ENSP00000387347:R657C;ENSP00000311951:R654C;ENSP00000407213:R616C	ENSP00000311951:R654C	R	-	1	0	IQCA1	236911752	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.128000	0.71650	2.567000	0.86603	0.650000	0.86243	CGC	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase		0.413	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	protein_coding	OTTHUMT00000329266.1	G	NM_024726	rs186626813		237247013	-1	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	SNP	1.000	A	A	237247013	G	A	237247013	3	1	49	1	0	0	0	0	1	0	0	0	7804	1145	40	1	511	1	IQCA1	2	237247013	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	24724504	237247013	5952360	7	2798											
KIF15	56992	genome.wustl.edu	37	chr3	44816813	44816813	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaaagatctgggtcagctGatggagagcagaacttatgc	13	7	2	5			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr3:44816813G>C	ENST00000326047.4	+	3	279	c.130G>C	c.(130-132)Gat>Cat	p.D44H		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	44	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)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGGGTCAGCTGATGGAGAGCA	0.458																																																	0								ENSG00000163808						159	136	144					3																	44816813		2203	4300	6503	KIF15	SO:0001583	missense	0			-	HGNC	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.130G>C	3.37:g.44816813G>C	ENSP00000324020:p.Asp44His	Somatic	0	29	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	20	0	0	60	9.09	6	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D44H	ENST00000326047.4	37	c.130	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681878	0.88542	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	T	0.75260	-0.92	5.77	5.77	0.91146	Kinesin, motor domain (4);	0.248472	0.28026	N	0.016895	T	0.79793	0.4507	L	0.42487	1.325	0.80722	D	1	D	0.56746	0.977	P	0.61800	0.894	T	0.79198	-0.1902	10	0.52906	T	0.07	.	14.5261	0.67890	0.07:0.0:0.93:0.0	.	44	Q9NS87	KIF15_HUMAN	H	44;43	ENSP00000324020:D44H	ENSP00000324020:D44H	D	+	1	0	KIF15	44791817	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	6.572000	0.74005	2.885000	0.99019	0.655000	0.94253	GAT	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.458	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	protein_coding	OTTHUMT00000343831.2	G		-		44816813	1	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	SNP	1.000	C	C	44816813	G	C	44816813	3	2	49	1	0	0	0	0	1	0	0	0	8279	1290	45	4	140	4	KIF15	3	44816813	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		44816813	153205617	8	2799											
KIAA1109	84162	genome.wustl.edu	37	chr4	123245583	123245583	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcccattttgttaggCtgcttccctaaaggataagt	7	10	1	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr4:123245583C>A	ENST00000264501.4	+	64	11169	c.10796C>A	c.(10795-10797)gCt>gAt	p.A3599D	KIAA1109_ENST00000388738.3_Splice_Site_p.A3599D|KIAA1109_ENST00000455637.1_Splice_Site_p.A3599D			Q2LD37	K1109_HUMAN	KIAA1109	3599					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						TTTTGTTAGGCTGCTTCCCTA	0.348																																																	0								ENSG00000138688						88	78	81					4																	123245583		1828	4084	5912	KIAA1109	SO:0001630	splice_region_variant	0			-	HGNC	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.10795-1C>A	4.37:g.123245583C>A		Somatic	0	31	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	44	0	0	29	17.14	6	pfam_Fragile_site-assoc_C	p.A3599D	ENST00000264501.4	37	c.10796	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995212	0.93167	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	T;T;T;T	0.35421	2.3;2.3;1.72;1.31	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.58278	0.2111	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.994	T	0.57688	-0.7768	10	0.62326	D	0.03	.	19.6536	0.95828	0.0:1.0:0.0:0.0	.	3599;3599	Q2LD37-6;Q2LD37	.;K1109_HUMAN	D	3599;3599;3599;282	ENSP00000264501:A3599D;ENSP00000373390:A3599D;ENSP00000389925:A3599D;ENSP00000410874:A282D	ENSP00000264501:A3599D	A	+	2	0	KIAA1109	123465033	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.424000	0.80242	2.631000	0.89168	0.655000	0.94253	GCT	-	NULL		0.348	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	C	NM_020797	-	Missense_Mutation	123245583	1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123245583	C	A	123245583	5	1	49	1	0	0	0	0	0	0	1	0	8210	811	28	3	11042	3	KIAA1109	4	123245583	Splice_Site	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09		123245583	67908693	9	2800											
LRBA	987	genome.wustl.edu	37	chr4	151849733	151849733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcgaactgtcaaattatAgctagccagcactcccaaca	6	14	1	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr4:151849733A>G	ENST00000357115.3	-	4	727	c.484T>C	c.(484-486)Tat>Cat	p.Y162H	LRBA_ENST00000510413.1_Missense_Mutation_p.Y162H|LRBA_ENST00000507224.1_Missense_Mutation_p.Y162H|LRBA_ENST00000535741.1_Missense_Mutation_p.Y162H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	162						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)					GTCAAATTATAGCTAGCCAGC	0.328																																																	0								ENSG00000198589						57	57	57					4																	151849733		2203	4300	6503	LRBA	SO:0001583	missense	0			-	HGNC	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.484T>C	4.37:g.151849733A>G	ENSP00000349629:p.Tyr162His	Somatic	0	24	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	37	0	0	52	16.13	10	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.Y162H	ENST00000357115.3	37	c.484	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478924	0.84747	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.97	4.97	0.65823	.	0.180655	0.37669	N	0.001991	T	0.74959	0.3785	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.87578	0.994;0.99;0.998	T	0.72633	-0.4234	10	0.26408	T	0.33	.	14.6786	0.69001	1.0:0.0:0.0:0.0	.	162;162;162	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	H	162	ENSP00000446299:Y162H;ENSP00000421552:Y162H;ENSP00000349629:Y162H;ENSP00000422180:Y162H	ENSP00000349629:Y162H	Y	-	1	0	LRBA	152069183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.024000	0.93689	1.875000	0.54330	0.533000	0.62120	TAT	-	superfamily_ARM-type_fold		0.328	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	A		-		151849733	-1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	SNP	1.000	G	G	151849733	A	G	151849733	3	3	49	1	0	0	0	0	1	0	0	0	8933	420	15	5	8327	5	LRBA	4	151849733	Missense_Mutation	SNP	A	TCGA-DX-A3U8-01A-11D-A29N-09	28604150	151849733	39304543	10	2801											
GUCY1A3	2982	genome.wustl.edu	37	chr4	156643228	156643228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatcagtttttgctggCgtcgttggagttaaaatgcc	12	7	2	0	rs571318059		TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr4:156643228C>T	ENST00000296518.7	+	9	1964	c.1755C>T	c.(1753-1755)ggC>ggT	p.G585G	GUCY1A3_ENST00000511507.1_Silent_p.G585G|GUCY1A3_ENST00000506455.1_Silent_p.G585G|GUCY1A3_ENST00000393832.3_Silent_p.G327G|GUCY1A3_ENST00000455639.2_Silent_p.G585G|GUCY1A3_ENST00000511108.1_Silent_p.G585G|GUCY1A3_ENST00000513574.1_Silent_p.G585G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	585	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTTTGCTGGCGTCGTTGGAG	0.423													C|||	1	0.000199681	0	0.0014	5008	,	,		18351	0		0	False		,,,				2504	0																0								ENSG00000164116						277	264	268					4																	156643228		2203	4300	6503	GUCY1A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1755C>T	4.37:g.156643228C>T		Somatic	0	70	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	28	0	0	31	26.19	11	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G585	ENST00000296518.7	37	c.1755	CCDS34085.1	4																																																																																			-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	protein_coding	OTTHUMT00000365786.2	C		-		156643228	1	no_errors	ENST00000296518	ensembl	human	known	74_37	silent	SNP	0.985	T	T	156643228	C	T	156643228	2	4	49	1	0	0	0	0	0	0	0	1	6896	755	27	1		1	GUCY1A3	4	156643228	Silent	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09	4793495	156643228	34511048	11	2802											
MCC	4163	genome.wustl.edu	37	chr5	112389545	112389545	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttccagctccagcatggtCagcttgaccgcagccctgtc	9	16	1	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr5:112389545C>T	ENST00000302475.4	-	13	2318	c.1755G>A	c.(1753-1755)ctG>ctA	p.L585L	MCC_ENST00000408903.3_Silent_p.L775L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L522L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	585					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCAGCATGGTCAGCTTGACCG	0.537																																																	0								ENSG00000171444						113	100	105					5																	112389545		2202	4300	6502	MCC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1755G>A	5.37:g.112389545C>T		Somatic	0	45	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	D3DT05|Q6ZR04	Silent	SNP	29	0	0	33	46.77	29	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.L585	ENST00000302475.4	37	c.1755	CCDS4111.1	5																																																																																			-	NULL		0.537	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377	-		112389545	-1	no_errors	ENST00000302475	ensembl	human	known	74_37	silent	SNP	1.000	T	T	112389545	C	T	112389545	2	4	49	1	0	0	0	0	0	0	0	1	9375	813	29	2		2	MCC	5	112389545	Silent	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09		112389545	68525715	12	2803											
PCDHB14	56122	genome.wustl.edu	37	chr5	140603414	140603414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtggttttggaaaacCctttacagttttttcggttt	9	6	1	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr5:140603414C>G	ENST00000239449.4	+	1	337	c.337C>G	c.(337-339)Cct>Gct	p.P113A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	113	Cadherin 1. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGAAAACCCTTTACAGTT	0.428																																					Ovarian(141;50 1831 27899 33809 37648)												0								ENSG00000120327						99	111	107					5																	140603414		2203	4300	6503	PCDHB14	SO:0001583	missense	0			-	HGNC	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.337C>G	5.37:g.140603414C>G	ENSP00000239449:p.Pro113Ala	Somatic	0	55	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	76	10.59	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	41	0	0	58	13.43	9	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P113A	ENST00000239449.4	37	c.337	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	22.9	4.353000	0.82132	.	.	ENSG00000120327	ENST00000239449	T	0.55930	0.49	4.92	4.92	0.64577	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.79040	0.4379	H	0.96943	3.91	0.80722	D	1	P	0.52316	0.952	P	0.55455	0.776	D	0.87051	0.2147	9	0.87932	D	0	.	18.0965	0.89492	0.0:1.0:0.0:0.0	.	113	Q9Y5E9	PCDBE_HUMAN	A	113	ENSP00000239449:P113A	ENSP00000239449:P113A	P	+	1	0	PCDHB14	140583598	0.697000	0.27767	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.434000	0.82447	0.650000	0.86243	CCT	-	superfamily_Cadherin-like		0.428	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	protein_coding	OTTHUMT00000251814.2	C	NM_018934	-		140603414	1	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140603414	C	G	140603414	3	3	49	1	0	0	0	0	1	0	0	0	11541	623	22	4	339	4	PCDHB14	5	140603414	Missense_Mutation	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09	28213869	140603414	40311846	13	2804											
PCDHGA9	56107	genome.wustl.edu	37	chr5	140784397	140784397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcacacaggtgaagtGcgcacagctcgggccctgct	15	13	0	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr5:140784397G>A	ENST00000573521.1	+	1	1878	c.1878G>A	c.(1876-1878)gtG>gtA	p.V626V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	626	Cadherin 6. {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)			CAGGTGAAGTGCGCACAGCTC	0.612																																																	0								ENSG00000261934						43	50	48					5																	140784397		2185	4300	6485	PCDHGA9	SO:0001819	synonymous_variant	0			-	HGNC	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.1878G>A	5.37:g.140784397G>A		Somatic	0	110	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	95	17.39	A2RU65|Q9Y5C9	Silent	SNP	33	0	0	43	15.69	8	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V626	ENST00000573521.1	37	c.1878	CCDS58981.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	protein_coding	OTTHUMT00000437105.1	G	NM_018921	-		140784397	1	no_errors	ENST00000573521	ensembl	human	known	74_37	silent	SNP	1.000	A	A	140784397	G	A	140784397	2	1	49	1	0	0	0	0	0	0	0	1	11563	1306	46	2		2	PCDHGA9	5	140784397	Silent	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	180983	140784397	40130863	14	2805											
HIST1H4C	8364	genome.wustl.edu	37	chr6	26104378	26104378	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttcttagagaacgttattcGagacgccgtcacctatacgg	9	10	2	2			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr6:26104378G>C	ENST00000377803.2	+	1	275	c.203G>C	c.(202-204)cGa>cCa	p.R68P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	68					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R68P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACGTTATTCGAGACGCCGTC	0.527																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000197061						74	66	69					6																	26104378		2203	4300	6503	HIST1H4C	SO:0001583	missense	0			-	HGNC	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.203G>C	6.37:g.26104378G>C	ENSP00000367034:p.Arg68Pro	Somatic	0	43	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	38	0	0	40	14.89	7	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R68P	ENST00000377803.2	37	c.203	CCDS4583.1	6	.	.	.	.	.	.	.	.	.	.	.	17.67	3.445966	0.63178	.	.	ENSG00000197061	ENST00000377803	T	0.69306	-0.39	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78981	-0.1989	7	0.87932	D	0	.	16.8557	0.86005	0.0:0.0:1.0:0.0	.	.	.	.	P	68	ENSP00000367034:R68P	ENSP00000367034:R68P	R	+	2	0	HIST1H4C	26212357	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	9.657000	0.98554	2.533000	0.85409	0.555000	0.69702	CGA	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.527	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	protein_coding	OTTHUMT00000040092.2	G	NM_003542	-		26104378	1	no_errors	ENST00000377803	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26104378	G	C	26104378	3	2	49	1	0	0	0	0	1	0	0	0	7169	1058	37	4	205	4	HIST1H4C	6	26104378	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		26104378	145010689	15	2806											
BBS9	27241	genome.wustl.edu	37	chr7	33397493	33397493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagttatccaatgtaaaTttagacttcccctaaagtta	6	9	0	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr7:33397493T>G	ENST00000242067.6	+	16	2100	c.1579T>G	c.(1579-1581)Ttt>Gtt	p.F527V	BBS9_ENST00000396127.2_Missense_Mutation_p.F492V|BBS9_ENST00000355070.2_Missense_Mutation_p.F522V|BBS9_ENST00000354265.4_Missense_Mutation_p.F492V|BBS9_ENST00000350941.3_Missense_Mutation_p.F487V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	527					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CCAATGTAAATTTAGACTTCC	0.333									Bardet-Biedl syndrome																																								0								ENSG00000122507						106	113	110					7																	33397493		2203	4299	6502	BBS9	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	-	HGNC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1579T>G	7.37:g.33397493T>G	ENSP00000242067:p.Phe527Val	Somatic	0	31	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	45	0	0	33	21.43	9	NULL	p.F527V	ENST00000242067.6	37	c.1579	CCDS43566.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.66|11.66|11.66	1.705951|1.705951|1.705951	0.30232|0.30232|0.30232	.|.|.	.|.|.	ENSG00000122507|ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373|ENST00000537775	T;T;T;T;T|.|.	0.09255|.|.	3.0;3.0;3.0;3.0;3.0|.|.	5.94|5.94|5.94	5.94|5.94|5.94	0.96194|0.96194|0.96194	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.47783|0.47783|0.47783	0.1464|0.1464|0.1464	L|L|L	0.28344|0.28344|0.28344	0.845|0.845|0.845	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B|.|.	0.10296|.|.	0.001;0.001;0.001;0.003;0.001|.|.	B;B;B;B;B|.|.	0.20184|.|.	0.021;0.028;0.011;0.028;0.011|.|.	T|T|T	0.41016|0.41016|0.41016	-0.9532|-0.9532|-0.9532	10|5|6	0.02654|.|0.02654	T|.|T	1|.|1	-28.7424|-28.7424|-28.7424	16.0762|16.0762|16.0762	0.80969|0.80969|0.80969	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	527;487;522;492;527|.|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.|.	.;.;.;.;PTHB1_HUMAN|.|.	V|S|K	527;487;492;522;492;527|93|404	ENSP00000242067:F527V;ENSP00000313122:F487V;ENSP00000379433:F492V;ENSP00000347182:F522V;ENSP00000346214:F492V|.|.	ENSP00000242067:F527V|.|ENSP00000441763:N404K	F|I|N	+|+|+	1|2|3	0|0|2	BBS9|BBS9|BBS9	33364018|33364018|33364018	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	5.996000|5.996000|5.996000	0.70639|0.70639|0.70639	2.278000|2.278000|2.278000	0.76064|0.76064|0.76064	0.523000|0.523000|0.523000	0.50628|0.50628|0.50628	TTT|ATT|AAT	-	NULL		0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	protein_coding	OTTHUMT00000329064.1	T		-		33397493	1	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33397493	T	G	33397493	3	3	49	1	0	0	0	0	1	0	0	0	1342	1493	52	5	1637	5	BBS9	7	33397493	Missense_Mutation	SNP	T	TCGA-DX-A3U8-01A-11D-A29N-09		33397493	125741170	16	2807											
CSMD1	64478	genome.wustl.edu	37	chr8	3245037	3245037	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcagctgggcaaggcgtGgttccactggtggttcctct	15	11	1	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr8:3245037G>C	ENST00000520002.1	-	19	3319	c.2764C>G	c.(2764-2766)Cac>Gac	p.H922D	CSMD1_ENST00000400186.3_Missense_Mutation_p.H922D|CSMD1_ENST00000542608.1_Missense_Mutation_p.H921D|CSMD1_ENST00000539096.1_Missense_Mutation_p.H921D|CSMD1_ENST00000602557.1_Missense_Mutation_p.H922D|CSMD1_ENST00000537824.1_Missense_Mutation_p.H921D|CSMD1_ENST00000602723.1_Missense_Mutation_p.H922D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	922	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GGCAAGGCGTGGTTCCACTGG	0.582																																																	0								ENSG00000183117						40	46	44					8																	3245037		2112	4223	6335	CSMD1	SO:0001583	missense	0			-	HGNC			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.2764C>G	8.37:g.3245037G>C	ENSP00000430733:p.His922Asp	Somatic	0	33	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	24	0	0	35	14.63	6	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H922D	ENST00000520002.1	37	c.2764		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555622|4.555622	0.86231|0.86231	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.22336|.	1.96;1.96;1.96;1.96;1.96|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53449|0.53449	0.1797|0.1797	N|N	0.20328|0.20328	0.56|0.56	0.58432|0.58432	D|D	0.999996|0.999996	D;P;D|.	0.65815|.	0.995;0.862;0.993|.	D;P;D|.	0.77557|.	0.99;0.734;0.92|.	T|T	0.49688|0.49688	-0.8913|-0.8913	10|5	0.07030|.	T|.	0.85|.	.|.	18.5306|18.5306	0.90990|0.90990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	922;922;922|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	D|R	922;922;784;921;921;921|401	ENSP00000383047:H922D;ENSP00000430733:H922D;ENSP00000441462:H921D;ENSP00000446243:H921D;ENSP00000441675:H921D|.	ENSP00000320445:H784D|.	H|P	-|-	1|2	0|0	CSMD1|CSMD1	3232444|3232444	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.855000|0.855000	0.48748|0.48748	7.781000|7.781000	0.85668|0.85668	2.374000|2.374000	0.81015|0.81015	0.650000|0.650000	0.86243|0.86243	CAC|CCA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.582	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225	-		3245037	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3245037	G	C	3245037	3	2	49	1	0	0	0	0	1	0	0	0	3946	1348	47	4	8145	4	CSMD1	8	3245037	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		3245037	143118985	17	2808											
NSMAF	8439	genome.wustl.edu	37	chr8	59548025	59548025	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatttaaaatgtatttAccttgatgatgggctgggat	9	4	1	2			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr8:59548025A>G	ENST00000038176.3	-	3	441		c.e3+1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAATGTATTTACCTTGATGAT	0.308																																																	0								ENSG00000035681						89	99	95					8																	59548025		2203	4299	6502	NSMAF	SO:0001630	splice_region_variant	0			-	HGNC	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.228+1T>C	8.37:g.59548025A>G		Somatic	0	35	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	49	0	0	65	18.52	15	-	e3+2	ENST00000038176.3	37	c.321+2	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707996	0.68615	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3708	0.66838	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59710579	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	6.386000	0.73186	2.130000	0.65690	0.477000	0.44152	.	-	-		0.308	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	protein_coding	OTTHUMT00000378384.1	A	NM_003580	-	Intron	59548025	-1	no_errors	ENST00000427130	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	59548025	A	G	59548025	5	3	49	1	0	0	0	0	0	0	1	0	10676	405	14	5	2639	5	NSMAF	8	59548025	Splice_Site	SNP	A	TCGA-DX-A3U8-01A-11D-A29N-09	56302988	59548025	86815997	18	2809											
PGM5	5239	genome.wustl.edu	37	chr9	70993134	70993134	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gattggacgactgattattgGacagaatggcatcttgtcga	12	6	1	2			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr9:70993134G>C	ENST00000396396.1	+	2	510	c.281G>C	c.(280-282)gGa>gCa	p.G94A	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.G94A	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	94					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTGATTATTGGACAGAATGGC	0.463																																																	0								ENSG00000154330						37	40	39					9																	70993134		2194	4285	6479	PGM5	SO:0001583	missense	0			-	HGNC	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.281G>C	9.37:g.70993134G>C	ENSP00000379678:p.Gly94Ala	Somatic	0	62	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	23.73	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	25	0	0	26	10.34	3	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.G94A	ENST00000396396.1	37	c.281	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	18.75	3.689579	0.68271	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.69175	-0.38;-0.38;-0.38	4.37	3.44	0.39384	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.058594	0.64402	N	0.000002	T	0.81235	0.4780	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83385	0.0014	10	0.72032	D	0.01	.	13.2343	0.59961	0.0:0.1619:0.8381:0.0	.	94	Q15124	PGM5_HUMAN	A	94;94;94;60	ENSP00000379678:G94A;ENSP00000379674:G94A;ENSP00000394864:G60A	ENSP00000366531:G94A	G	+	2	0	PGM5	70182954	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	0.912000	0.36772	0.544000	0.68410	GGA	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.463	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	protein_coding	OTTHUMT00000052548.2	G	NM_021965	-		70993134	1	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70993134	G	C	70993134	3	2	49	1	0	0	0	0	1	0	0	0	11803	1174	41	4	287	4	PGM5	9	70993134	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		70993134	70220297	19	2810											
RAPGEF1	2889	genome.wustl.edu	37	chr9	134463181	134463181	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagttggggctcttctcctCattctgctcttttgcccaaa	7	13	5	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr9:134463181C>T	ENST00000372189.3	-	19	2740	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E890K|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E891K	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	873	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTCTTCTCCTCATTCTGCTCT	0.537																																																	0								ENSG00000107263						78	84	82					9																	134463181		1935	4135	6070	RAPGEF1	SO:0001583	missense	0			-	HGNC	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2617G>A	9.37:g.134463181C>T	ENSP00000361263:p.Glu873Lys	Somatic	0	37	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q5JUE4|Q8IV73	Missense_Mutation	SNP	31	0	0	27	20.59	7	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E891K	ENST00000372189.3	37	c.2671	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.372869	0.95923	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686	T;T;T	0.28895	1.59;1.59;1.59	4.89	4.89	0.63831	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.51325	-0.8720	10	0.72032	D	0.01	.	17.0282	0.86453	0.0:1.0:0.0:0.0	.	873;891	Q13905;Q13905-3	RPGF1_HUMAN;.	K	873;890;819;873;891;853;851;318;890	ENSP00000361269:E890K;ENSP00000361263:E873K;ENSP00000361264:E891K	ENSP00000266110:E873K	E	-	1	0	RAPGEF1	133453002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.439000	0.80444	2.233000	0.73108	0.561000	0.74099	GAG	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.537	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	protein_coding	OTTHUMT00000054759.2	C	NM_005312	-		134463181	-1	no_errors	ENST00000372190	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134463181	C	T	134463181	3	4	49	1	0	0	0	0	1	0	0	0	13051	835	29	2	640	2	RAPGEF1	9	134463181	Missense_Mutation	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09	63470047	134463181	6750250	20	2811											
GPSM1	26086	genome.wustl.edu	37	chr9	139252558	139252558	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gacttcttcagcctcattcaGagggtgcaggctaagcgcat	11	11	4	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr9:139252558G>C	ENST00000440944.1	+	14	2134	c.1914G>C	c.(1912-1914)caG>caC	p.Q638H	GPSM1_ENST00000429455.1_Missense_Mutation_p.Q129H|GPSM1_ENST00000392944.1_Missense_Mutation_p.Q129H	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	638	GoLoco 4. {ECO:0000255|PROSITE- ProRule:PRU00097}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCCTCATTCAGAGGGTGCAGG	0.711																																																	0								ENSG00000160360						48	42	44					9																	139252558		2203	4300	6503	GPSM1	SO:0001583	missense	0			-	HGNC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"Tetratricopeptide (TTC) repeat domain containing"	17858	protein-coding gene	gene with protein product	"AGS3 homolog (C. elegans)"	609491	"G-protein signalling modulator 1 (AGS3-like, C. elegans)"			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1914G>C	9.37:g.139252558G>C	ENSP00000392828:p.Gln638His	Somatic	0	65	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	25	0	0	27	20.59	7	pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q638H	ENST00000440944.1	37	c.1914	CCDS48055.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071357	0.76301	.	.	ENSG00000160360	ENST00000440944;ENST00000354753;ENST00000429455;ENST00000392944;ENST00000291775	D;D	0.91124	-2.79;-2.78	4.58	1.53	0.23141	GoLoco motif (3);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	M	0.65498	2.005	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.89936	0.4069	10	0.72032	D	0.01	-13.4905	6.3897	0.21579	0.1448:0.0:0.7085:0.1467	.	638	Q86YR5	GPSM1_HUMAN	H	638;615;129;129;129	ENSP00000392828:Q638H;ENSP00000346797:Q615H	ENSP00000291775:Q129H	Q	+	3	2	GPSM1	138372379	1.000000	0.71417	0.980000	0.43619	0.828000	0.46876	6.274000	0.72587	0.003000	0.14656	0.313000	0.20887	CAG	-	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif		0.711	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	protein_coding		G	NM_015597	-		139252558	1	no_errors	ENST00000440944	ensembl	human	known	74_37	missense	SNP	1.000	C	C	139252558	G	C	139252558	3	2	49	1	0	0	0	0	1	0	0	0	6736	933	33	4	2135	4	GPSM1	9	139252558	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	4789377	139252558	1960873	21	2812											
PLCE1	51196	genome.wustl.edu	37	chr10	96022444	96022444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgatttcctcgtgaattgCcaaggagaacactgcactta	8	10	0	2			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr10:96022444C>T	ENST00000371380.3	+	13	4243	c.4008C>T	c.(4006-4008)tgC>tgT	p.C1336C	PLCE1_ENST00000260766.3_Silent_p.C1336C|PLCE1_ENST00000371375.1_Silent_p.C1028C|PLCE1_ENST00000371385.3_Silent_p.C1028C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1336					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)				TCGTGAATTGCCAAGGAGAAC	0.468																																																	0								ENSG00000138193						173	168	170					10																	96022444		2003	4178	6181	PLCE1	SO:0001819	synonymous_variant	0			-	HGNC		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.4008C>T	10.37:g.96022444C>T		Somatic	0	48	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	53	37.65	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	29	0	0	37	33.93	19	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.C1336	ENST00000371380.3	37	c.4008	CCDS41552.1	10																																																																																			-	pfam_PLipase_C_EF-hand-like		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	C	NM_016341	-		96022444	1	no_errors	ENST00000260766	ensembl	human	known	74_37	silent	SNP	1.000	T	T	96022444	C	T	96022444	2	4	49	1	0	0	0	0	0	0	0	1	12036	747	26	2		2	PLCE1	10	96022444	Silent	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09		96022444	39512303	22	2813											
PRLHR	2834	genome.wustl.edu	37	chr10	120354681	120354681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctgcgctctggttggCgggagttgtgaccgccggcg	18	12	2	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr10:120354681C>T	ENST00000369169.1	-	1	75	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	PRLHR_ENST00000239032.2_Missense_Mutation_p.A26T			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	26					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CTCTGGTTGGCGGGAGTTGTG	0.647																																																	0								ENSG00000119973						24	31	29					10																	120354681		2164	4254	6418	PRLHR	SO:0001583	missense	0			-	HGNC	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.76G>A	10.37:g.120354681C>T	ENSP00000358167:p.Ala26Thr	Somatic	0	58	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	56	16.18	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	21	0	0	36	24.49	12	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A26T	ENST00000369169.1	37	c.76	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	C	9.021	0.984950	0.18889	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.61980	0.06;0.06	4.56	3.63	0.41609	.	1.235040	0.06032	N	0.653199	T	0.40040	0.1101	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.21586	-1.0241	10	0.14656	T	0.56	.	7.4681	0.27332	0.0:0.8176:0.0:0.1824	.	26	P49683	PRLHR_HUMAN	T	26	ENSP00000239032:A26T;ENSP00000358167:A26T	ENSP00000239032:A26T	A	-	1	0	PRLHR	120344671	0.420000	0.25457	0.539000	0.28077	0.218000	0.24690	0.753000	0.26376	2.376000	0.81061	0.650000	0.86243	GCC	-	prints_Prolrel_pep_rcpt		0.647	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	protein_coding	OTTHUMT00000050610.1	C	NM_004248	-		120354681	-1	no_errors	ENST00000239032	ensembl	human	known	74_37	missense	SNP	0.014	T	T	120354681	C	T	120354681	3	4	49	1	0	0	0	0	1	0	0	0	12535	768	27	1	1040	1	PRLHR	10	120354681	Missense_Mutation	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09	24332237	120354681	15180066	23	2814											
OR10G7	390265	genome.wustl.edu	37	chr11	123909182	123909182	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggtgcgtcacagaagTagtgctggatctggttgggt	18	6	2	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr11:123909182T>A	ENST00000330487.5	-	1	535	c.527A>T	c.(526-528)tAc>tTc	p.Y176F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	176						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(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCACAGAAGTAGTGCTGGAT	0.562																																																	0								ENSG00000182634						207	200	202					11																	123909182		2200	4296	6496	OR10G7	SO:0001583	missense	0			-	HGNC	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.527A>T	11.37:g.123909182T>A	ENSP00000329689:p.Tyr176Phe	Somatic	0	157	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	129	25.43	Q6IFE8	Missense_Mutation	SNP	22	0	0	37	21.28	10	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y176F	ENST00000330487.5	37	c.527	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	T	0.198	-1.047675	0.01981	.	.	ENSG00000182634	ENST00000330487	T	0.00011	9.38	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.172945	0.27901	N	0.017397	T	0.00039	0.0001	N	0.00272	-1.73	0.24129	N	0.995774	B	0.20887	0.049	B	0.30782	0.12	T	0.30995	-0.9959	10	0.02654	T	1	.	7.5217	0.27633	0.2467:0.0:0.0:0.7533	.	176	Q8NGN6	O10G7_HUMAN	F	176	ENSP00000329689:Y176F	ENSP00000329689:Y176F	Y	-	2	0	OR10G7	123414392	0.006000	0.16342	1.000000	0.80357	0.927000	0.56198	-0.114000	0.10757	1.490000	0.48466	0.374000	0.22700	TAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	protein_coding	OTTHUMT00000387271.1	T	NM_001004463	-		123909182	-1	no_errors	ENST00000330487	ensembl	human	known	74_37	missense	SNP	0.824	A	A	123909182	T	A	123909182	3	1	49	1	0	0	0	0	1	0	0	0	10904	1638	57	5	412	5	OR10G7	11	123909182	Missense_Mutation	SNP	T	TCGA-DX-A3U8-01A-11D-A29N-09		123909182	11097334	24	2815											
WNK1	65125	genome.wustl.edu	37	chr12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A													gttggtacgggaggagcaagINSaaaaaaaaaagcaggaagag							TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					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)	p.?(1)		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)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)						ENSG00000060237																																			WNK1	SO:0001589	frameshift_variant	0				HGNC	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.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs	Somatic	0	21	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS	22	0	0	35	2.78	1	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			-	NULL		0.47	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	-	NM_018979			970297	1	no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	970297	-	A	970296	7	5	49	1	0	1	1	0	0	0	0	0	17384	943	33	0	1764	0	WNK1	12	970296	Frame_Shift_Ins	INS	-	TCGA-DX-A3U8-01A-11D-A29N-09		970296	132881599	25	2816											
PTPN11	5781	genome.wustl.edu	37	chr12	112915797	112915797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtgattgtcatgacaaCgaaagaagtggagagaggaa	14	5	1	4			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr12:112915797C>T	ENST00000351677.2	+	9	1268	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	PTPN11_ENST00000392597.1_Missense_Mutation_p.T357M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	357	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)			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						GTCATGACAACGAAAGAAGTG	0.408			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0								ENSG00000179295						67	64	65					12																	112915797		2203	4300	6503	PTPN11	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	-	HGNC	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.1070C>T	12.37:g.112915797C>T	ENSP00000340944:p.Thr357Met	Somatic	0	42	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	A8K1D9|Q96HD7	Missense_Mutation	SNP	24	0	0	42	24.56	14	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.T357M	ENST00000351677.2	37	c.1070	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.328274	0.95733	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99436	-5.9;-5.9	5.94	5.94	0.96194	.	0.045103	0.85682	D	0.000000	D	0.99680	0.9880	H	0.96269	3.795	0.80722	D	1	D;D	0.63880	0.993;0.992	P;P	0.60345	0.754;0.873	D	0.97896	1.0300	10	0.87932	D	0	.	20.417	0.99027	0.0:1.0:0.0:0.0	.	357;357	Q06124-2;Q06124-3	.;.	M	357	ENSP00000376376:T357M;ENSP00000340944:T357M	ENSP00000340944:T357M	T	+	2	0	PTPN11	111400180	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	7.423000	0.80229	2.839000	0.97877	0.580000	0.79431	ACG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt		0.408	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	C		-		112915797	1	no_errors	ENST00000351677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112915797	C	T	112915797	3	4	49	1	0	0	0	0	1	0	0	0	12786	536	19	1	1104	1	PTPN11	12	112915797	Missense_Mutation	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09	111945501	112915797	20936098	26	2817											
SHISA2	387914	genome.wustl.edu	37	chr13	26621170	26621170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgataaaggcgacaaacacGgagccaacaatgaggaacgg	12	8	0	2	rs139266835	byFrequency	TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr13:26621170G>A	ENST00000319420.3	-	2	424	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	123					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CGACAAACACGGAGCCAACAA	0.547																																																	0								ENSG00000180730	A		6,4400	11.4+/-27.6	0,6,2197	86	70	75		369	-9.4	0.2	13	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SHISA2	NM_001007538.1		0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538		123/296	26621170	7,12999	2203	4300	6503	SHISA2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.369C>T	13.37:g.26621170G>A		Somatic	0	22	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	B9EH70|Q5W0G8	Silent	SNP	35	0	0	32	21.95	9	NULL	p.S123	ENST00000319420.3	37	c.369	CCDS31951.1	13																																																																																			-	NULL		0.547	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA2	protein_coding	OTTHUMT00000044239.2	G	NM_001007538	rs139266835		26621170	-1	no_errors	ENST00000319420	ensembl	human	known	74_37	silent	SNP	0.001	A	A	26621170	G	A	26621170	2	1	49	1	0	0	0	0	0	0	0	1	14288	1103	39	1		1	SHISA2	13	26621170	Silent	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		26621170	88548708	27	2818											
DNAJC15	29103	genome.wustl.edu	37	chr13	43659903	43659903	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgtaatttctttttacaGcccatctgctggcaaggcta	7	11	2	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr13:43659903G>T	ENST00000379221.2	+	5	735		c.e5-1			NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15						cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TCTTTTTACAGCCCATCTGCT	0.308																																																	0								ENSG00000120675						68	68	68					13																	43659903		2203	4298	6501	DNAJC15	SO:0001630	splice_region_variant	0			-	HGNC	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.312-1G>T	13.37:g.43659903G>T		Somatic	0	17	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B2R4L0|Q5T219|Q6X963	Splice_Site	SNP	37	0	0	55	0.00	0	-	e5-1	ENST00000379221.2	37	c.312-1	CCDS9388.1	13	.	.	.	.	.	.	.	.	.	.	G	9.015	0.983515	0.18889	.	.	ENSG00000120675	ENST00000379221	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9678	0.92702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC15	42557903	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	8.005000	0.88553	2.711000	0.92665	0.655000	0.94253	.	-	-		0.308	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC15	protein_coding	OTTHUMT00000044709.2	G	NM_013238	-	Intron	43659903	1	no_errors	ENST00000379221	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	43659903	G	T	43659903	5	4	49	1	0	0	0	0	0	0	1	0	4636	985	34	3	329	3	DNAJC15	13	43659903	Splice_Site	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	17038733	43659903	71509975	28	2819											
LIG4	3981	genome.wustl.edu	37	chr13	108862125	108862125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagagagtatgaaacacagAtggcttctcaccaggagggg	14	7	1	4			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr13:108862125A>G	ENST00000356922.4	-	2	1764	c.1492T>C	c.(1492-1494)Tct>Cct	p.S498P	LIG4_ENST00000405925.1_Missense_Mutation_p.S498P|LIG4_ENST00000442234.1_Missense_Mutation_p.S498P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	498					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGAAACACAGATGGCTTCTCA	0.458								Non-homologous end-joining																																									0								ENSG00000174405						133	136	135					13																	108862125		2203	4300	6503	LIG4	SO:0001583	missense	0			-	HGNC	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1492T>C	13.37:g.108862125A>G	ENSP00000349393:p.Ser498Pro	Somatic	0	27	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q8IY66|Q8TEU5	Missense_Mutation	SNP	23	0	0	34	32.00	16	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S498P	ENST00000356922.4	37	c.1492	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	A	9.078	0.998626	0.19121	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.63255	-0.03;-0.03;-0.03	5.06	3.85	0.44370	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.118767	0.64402	D	0.000015	T	0.49541	0.1563	L	0.35793	1.09	0.41166	D	0.986138	B	0.12013	0.005	B	0.19666	0.026	T	0.39901	-0.9591	10	0.33940	T	0.23	.	9.2792	0.37718	0.696:0.0:0.0:0.304	.	498	P49917	DNLI4_HUMAN	P	498	ENSP00000385955:S498P;ENSP00000402030:S498P;ENSP00000349393:S498P	ENSP00000349393:S498P	S	-	1	0	LIG4	107660126	0.779000	0.28652	0.725000	0.30721	0.968000	0.65278	1.583000	0.36579	0.830000	0.34757	0.450000	0.29827	TCT	-	pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep		0.458	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	protein_coding	OTTHUMT00000045738.4	A	NM_002312	-		108862125	-1	no_errors	ENST00000356922	ensembl	human	known	74_37	missense	SNP	0.644	G	G	108862125	A	G	108862125	3	3	49	1	0	0	0	0	1	0	0	0	8785	333	12	5	1247	5	LIG4	13	108862125	Missense_Mutation	SNP	A	TCGA-DX-A3U8-01A-11D-A29N-09	65202222	108862125	6307753	29	2820											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72055964	72055964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccattgcacaaatgcaGgagtggcagtacttgaagtg	12	8	0	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr14:72055964G>A	ENST00000555818.1	+	2	1723	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G459R|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G459R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	459					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACAAATGCAGGAGTGGCAGT	0.443																																																	0								ENSG00000197555						93	85	88					14																	72055964		2203	4300	6503	SIPA1L1	SO:0001583	missense	0			-	HGNC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1375G>A	14.37:g.72055964G>A	ENSP00000450832:p.Gly459Arg	Somatic	0	34	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	13	0	0	42	20.75	11	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.G459R	ENST00000555818.1	37	c.1375	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535451	0.85812	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.80480	-1.38;-1.36;-1.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.965;0.998;0.96	D	0.91169	0.4967	10	0.87932	D	0	-24.28	20.6593	0.99626	0.0:0.0:1.0:0.0	.	459;459;459	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	R	459	ENSP00000370630:G459R;ENSP00000450832:G459R;ENSP00000351352:G459R	ENSP00000351352:G459R	G	+	1	0	SIPA1L1	71125717	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GGA	-	NULL		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	G	NM_015556	-		72055964	1	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72055964	G	A	72055964	3	1	49	1	0	0	0	0	1	0	0	0	14337	1001	35	2	1377	2	SIPA1L1	14	72055964	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		72055964	35293576	30	2821											
ATP10A	57194	genome.wustl.edu	37	chr15	25940132	25940132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggccaggcttctcccatcGatcacgaggctgggtctgcg	13	13	3	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr15:25940132G>A	ENST00000356865.6	-	14	3033	c.2922C>T	c.(2920-2922)atC>atT	p.I974I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	974					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCTCCCATCGATCACGAGGC	0.607																																																	0								ENSG00000206190						102	96	98					15																	25940132		2203	4300	6503	ATP10A	SO:0001819	synonymous_variant	0			-	HGNC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2922C>T	15.37:g.25940132G>A		Somatic	0	53	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	56	12.50	Q4G0S9|Q969I4	Silent	SNP	32	0	0	22	33.33	11	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I974	ENST00000356865.6	37	c.2922	CCDS32178.1	15																																																																																			-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	protein_coding	OTTHUMT00000414830.1	G	NM_024490	-		25940132	-1	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	SNP	0.113	A	A	25940132	G	A	25940132	2	1	49	1	0	0	0	0	0	0	0	1	1116	1048	37	1		1	ATP10A	15	25940132	Silent	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		25940132	76591260	31	2822											
LEO1	123169	genome.wustl.edu	37	chr15	52239560	52239560	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctgatccctcatcactgtCtgatgaatagattctggctc	7	11	5	4			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr15:52239560C>G	ENST00000299601.5	-	11	1885	c.1825G>C	c.(1825-1827)Gac>Cac	p.D609H	LEO1_ENST00000315141.5_Missense_Mutation_p.D549H	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	609					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)		TCATCACTGTCTGATGAATAG	0.403																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0								ENSG00000166477						194	177	183					15																	52239560		2195	4293	6488	LEO1	SO:0001583	missense	0			-	HGNC	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.1825G>C	15.37:g.52239560C>G	ENSP00000299601:p.Asp609His	Somatic	0	40	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	Q96N99	Missense_Mutation	SNP	15	0	0	38	19.15	9	pfam_Leo1	p.D609H	ENST00000299601.5	37	c.1825	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	.	27.9	4.872133	0.91587	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.81274	-0.1007	9	0.87932	D	0	.	18.9711	0.92715	0.0:1.0:0.0:0.0	.	549;609	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	H	609;587;549	.	ENSP00000299601:D609H	D	-	1	0	LEO1	50026852	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.593000	0.82686	2.596000	0.87737	0.555000	0.69702	GAC	-	pfam_Leo1		0.403	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	protein_coding	OTTHUMT00000254791.2	C	NM_138792	-		52239560	-1	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	SNP	1.000	G	G	52239560	C	G	52239560	3	3	49	1	0	0	0	0	1	0	0	0	8728	913	32	4	183	4	LEO1	15	52239560	Missense_Mutation	SNP	C	TCGA-DX-A3U8-01A-11D-A29N-09	26299428	52239560	50291832	32	2823											
ITGAL	3683	genome.wustl.edu	37	chr16	30490513	30490513	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcccatgctgcagggGcgccctggttttcagggtaa	15	11	1	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr16:30490513G>T	ENST00000356798.6	+	5	609	c.429G>T	c.(427-429)ggG>ggT	p.G143G	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Silent_p.G143G|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	143					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGCTGCAGGGGCGCCCTGGTT	0.557																																					NSCLC(110;1462 1641 3311 33990 49495)												0								ENSG00000005844						70	68	69					16																	30490513		2197	4300	6497	ITGAL	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.429G>T	16.37:g.30490513G>T		Somatic	0	49	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	48	25.00	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	27	0	0	25	21.88	7	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.G143	ENST00000356798.6	37	c.429	CCDS32433.1	16																																																																																			-	NULL		0.557	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	protein_coding	OTTHUMT00000434508.2	G		-		30490513	1	no_errors	ENST00000356798	ensembl	human	known	74_37	silent	SNP	0.000	T	T	30490513	G	T	30490513	2	4	49	1	0	0	0	0	0	0	0	1	7888	1190	42	3		3	ITGAL	16	30490513	Silent	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		30490513	59864240	33	2824											
PLXDC1	57125	genome.wustl.edu	37	chr17	37226190	37226190	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatggccgccacgaggagGactgccagcacgatgcccac	13	14	0	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr17:37226190G>A	ENST00000315392.4	-	13	1513	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	PLXDC1_ENST00000444911.2_Silent_p.V394V|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	434					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCACGAGGAGGACTGCCAGCA	0.582											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000161381						114	96	102					17																	37226190		2203	4300	6503	PLXDC1	SO:0001819	synonymous_variant	0			-	HGNC	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1302C>T	17.37:g.37226190G>A		Somatic	0	50	0	869	0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	26	0	0	31	26.19	11	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.V434	ENST00000315392.4	37	c.1302	CCDS11333.1	17																																																																																			-	NULL		0.582	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	protein_coding	OTTHUMT00000256892.2	G	NM_020405	-		37226190	-1	no_errors	ENST00000315392	ensembl	human	known	74_37	silent	SNP	0.938	A	A	37226190	G	A	37226190	2	1	49	1	0	0	0	0	0	0	0	1	12119	1161	41	2		2	PLXDC1	17	37226190	Silent	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		37226190	43969020	34	2825											
PRKCA	5578	genome.wustl.edu	37	chr17	64770113	64770113	+	Frame_Shift_Del	DEL	T	T	-													gttttcacacagataatcgcTtatcagccgtatggaaaatc							TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr17:64770113delT	ENST00000413366.3	+	14	1559	c.1533delT	c.(1531-1533)gctfs	p.A511fs		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AGATAATCGCTTATCAGCCGT	0.428																																																	0								ENSG00000154229						263	247	252					17																	64770113		2203	4300	6503	PRKCA	SO:0001589	frameshift_variant	0				HGNC		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1533delT	17.37:g.64770113delT	ENSP00000408695:p.Ala511fs	Somatic	0	62	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	B5BU22|Q15137|Q32M72|Q96RE4	Frame_Shift_Del	DEL	39	0	0	41	0.00	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.Y512fs	ENST00000413366.3	37	c.1533	CCDS11664.1	17																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom		0.428	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	protein_coding	OTTHUMT00000446976.1	T				64770113	1	no_errors	ENST00000413366	ensembl	human	known	74_37	frame_shift_del	DEL	0.955	-	-	64770113	T	-	64770113	7	5	49	1	0	1	0	1	0	0	0	0	12512	1596	56	0	1587	0	PRKCA	17	64770113	Frame_Shift_Del	DEL	T	TCGA-DX-A3U8-01A-11D-A29N-09	27543923	64770113	16425097	35	2826											
QRICH2	84074	genome.wustl.edu	37	chr17	74283966	74283966	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccttccaggatcctctGcagcctttccacctacaaac	4	18	1	0			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr17:74283966G>A	ENST00000262765.5	-	6	3492	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1105										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						AGGATCCTCTGCAGCCTTTCC	0.577																																																	0								ENSG00000129646						167	121	137					17																	74283966		2203	4300	6503	QRICH2	SO:0001587	stop_gained	0			-	HGNC	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.3313C>T	17.37:g.74283966G>A	ENSP00000262765:p.Gln1105*	Somatic	0	67	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	A2RRE1|Q96LM3	Nonsense_Mutation	SNP	27	0	0	37	9.76	4	NULL	p.Q1105*	ENST00000262765.5	37	c.3313	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121572	0.56613	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	.	.	.	4.48	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	1.0478	7.4485	0.27225	0.0:0.1761:0.6229:0.201	.	.	.	.	X	1105;113;1105	.	ENSP00000262765:Q1105X	Q	-	1	0	QRICH2	71795561	0.025000	0.19082	0.004000	0.12327	0.081000	0.17604	1.233000	0.32648	0.828000	0.34709	0.462000	0.41574	CAG	-	NULL		0.577	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	G	NM_032134	-		74283966	-1	no_errors	ENST00000262765	ensembl	human	known	74_37	nonsense	SNP	0.008	A	A	74283966	G	A	74283966	4	1	49	1	0	0	0	0	0	1	0	0	12888	1328	46	2	1734	2	QRICH2	17	74283966	Nonsense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	9513853	74283966	6911244	36	2827											
FAM38B	63895	genome.wustl.edu	37	chr18	10773521	10773521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttcagagtagccctcaaGcttctcctccccaggctcag	7	15	4	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr18:10773521G>T	ENST00000503781.3	-	18	2598	c.2599C>A	c.(2599-2601)Ctt>Att	p.L867I	PIEZO2_ENST00000580640.1_Missense_Mutation_p.L892I|PIEZO2_ENST00000302079.6_Missense_Mutation_p.L867I|PIEZO2_ENST00000383408.2_Missense_Mutation_p.L155I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	867	Glu-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TAGCCCTCAAGCTTCTCCTCC	0.592																																																	0								ENSG00000154864						80	70	73					18																	10773521		692	1591	2283	PIEZO2	SO:0001583	missense	0			-	HGNC	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2599C>A	18.37:g.10773521G>T	ENSP00000421377:p.Leu867Ile	Somatic	0	18	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	24	0	0	41	19.61	10	NULL	p.L881I	ENST00000503781.3	37	c.2641		18	.	.	.	.	.	.	.	.	.	.	G	7.253	0.603618	0.14002	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.76839	-1.05;-1.05	5.5	-1.46	0.08800	.	7.370860	0.02223	U	0.064186	T	0.51143	0.1657	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44390	-0.9331	10	0.33141	T	0.24	.	4.0107	0.09621	0.0766:0.1855:0.2072:0.5307	.	892	Q9H5I5-4	.	I	867;155	ENSP00000303316:L867I;ENSP00000372900:L155I	ENSP00000303316:L867I	L	-	1	0	FAM38B	10763521	0.001000	0.12720	0.000000	0.03702	0.372000	0.29890	0.789000	0.26886	-0.007000	0.14345	0.591000	0.81541	CTT	-	NULL		0.592	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	protein_coding	OTTHUMT00000442385.4	G	NM_022068	-		10773521	-1	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	SNP	0.000	T	T	10773521	G	T	10773521	3	4	49	1	0	0	0	0	1	0	0	0	5557	971	34	3	5799	3	FAM38B	18	10773521	Missense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09		10773521	67303727	37	2828											
CCDC11	220136	genome.wustl.edu	37	chr18	47778111	47778111	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcctcacacaccttcttctGatggatagataacaattcaa	4	12	4	2			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr18:47778111G>A	ENST00000398545.4	-	4	634	c.517C>T	c.(517-519)Cag>Tag	p.Q173*		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACCTTCTTCTGATGGATAGAT	0.458																																																	0								ENSG00000172361						244	238	240					18																	47778111		1977	4159	6136	CCDC11	SO:0001587	stop_gained	0			-	HGNC																												ENST00000398545.4:c.517C>T	18.37:g.47778111G>A	ENSP00000381553:p.Gln173*	Somatic	0	29	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00		Nonsense_Mutation	SNP	28	0	0	54	15.62	10	NULL	p.Q173*	ENST00000398545.4	37	c.517	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139369	0.56936	.	.	ENSG00000172361	ENST00000398545	.	.	.	5.32	-2.58	0.06228	.	1.008970	0.07950	N	0.980733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.6293	15.5166	0.75830	0.0:0.6237:0.2833:0.093	.	.	.	.	X	173	.	ENSP00000381553:Q173X	Q	-	1	0	CCDC11	46032109	0.428000	0.25522	0.542000	0.28115	0.492000	0.33523	0.213000	0.17521	-0.104000	0.12154	-0.165000	0.13383	CAG	-	NULL		0.458	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	protein_coding	OTTHUMT00000255922.3	G		-		47778111	-1	no_errors	ENST00000398545	ensembl	human	known	74_37	nonsense	SNP	0.017	A	A	47778111	G	A	47778111	4	1	49	1	0	0	0	0	0	1	0	0	2748	1299	45	2	1047	2	CCDC11	18	47778111	Nonsense_Mutation	SNP	G	TCGA-DX-A3U8-01A-11D-A29N-09	37004590	47778111	30299137	38	2829											
GAS2L1	10633	genome.wustl.edu	37	chr22	29708008	29708008	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccggcgcctggaagAggagttcctggccaatgccc	14	13	0	1			TCGA-DX-A3U8-01A-11D-A29N-09	TCGA-DX-A3U8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729229fe-92b9-439b-acd2-b49159116a41	de98db7b-81ee-4500-ab0a-80894271d467	g.chr22:29708008A>C	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_Silent_p.R523R|GAS2L1_ENST00000471961.1_Silent_p.R523R|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407854.1_Silent_p.R523R|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000403764.1_Silent_p.R523R	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CGCCTGGAAGAGGAGTTCCTG	0.687																																																	0								ENSG00000185340						46	59	55					22																	29708008		2034	4184	6218	GAS2L1	SO:0001628	intergenic_variant	0			-	HGNC	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708008A>C		Somatic	0	46	0		0.536404434607716				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q49AU5|Q6PI03	Silent	SNP	27	0	0	27	12.90	4	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R523	ENST00000216101.6	37	c.1567	CCDS13854.1	22	.	.	.	.	.	.	.	.	.	.	A	8.205	0.799106	0.16397	.	.	ENSG00000185340	ENST00000333679	.	.	.	3.68	3.68	0.42216	.	0.373012	0.21691	U	0.070580	T	0.42471	0.1204	.	.	.	0.80722	D	1	B;B	0.25521	0.128;0.128	B;B	0.19666	0.026;0.026	T	0.36286	-0.9754	8	0.40728	T	0.16	-11.5917	6.6194	0.22794	0.8874:0.0:0.1126:0.0	.	523;523	A0A5E8;Q99501	.;GA2L1_HUMAN	A	522	.	ENSP00000332834:E522A	E	+	2	0	GAS2L1	28038008	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.593000	0.46180	1.540000	0.49301	0.402000	0.26972	GAG	-	NULL		0.687	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L1	protein_coding	OTTHUMT00000321342.1	A		-		29708008	1	no_errors	ENST00000403764	ensembl	human	known	74_37	silent	SNP	1.000	C	C	29708008	A	C	29708008	1	2	49	0	1	0	0	0	0	0	0	0	6248	295	11	5		5	GAS2L1	22	29708008	IGR	SNP	A	TCGA-DX-A3U8-01A-11D-A29N-09		29708008	21596558	39	2830											
MASP2	10747	genome.wustl.edu	37	chr1	11087529	11087529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatgtccagggcggatgCatcatgtttttgctcataga	11	8	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:11087529C>A	ENST00000400897.3	-	11	1489	c.1474G>T	c.(1474-1476)Gca>Tca	p.A492S	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	492	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGGGCGGATGCATCATGTTTT	0.453																																					GBM(35;611 746 20780 22741 36496)												0								ENSG00000009724						180	170	173					1																	11087529		2203	4300	6503	MASP2	SO:0001583	missense	0			-	HGNC	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1474G>T	1.37:g.11087529C>A	ENSP00000383690:p.Ala492Ser	Somatic	0	81	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	64	32.63	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A492S	ENST00000400897.3	37	c.1474	CCDS123.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.865749	0.00547	.	.	ENSG00000009724	ENST00000400897	D	0.88975	-2.45	5.16	0.897	0.19258	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.909542	0.09426	N	0.803672	T	0.74068	0.3668	N	0.11255	0.115	0.09310	N	0.999998	B	0.09022	0.002	B	0.12837	0.008	T	0.59026	-0.7531	10	0.14252	T	0.57	.	5.3733	0.16152	0.1022:0.5926:0.1482:0.157	.	492	O00187	MASP2_HUMAN	S	492	ENSP00000383690:A492S	ENSP00000383690:A492S	A	-	1	0	MASP2	11010116	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.050000	0.14120	0.532000	0.28657	0.563000	0.77884	GCA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.453	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	protein_coding	OTTHUMT00000006072.1	C	NM_006610	-		11087529	-1	no_errors	ENST00000400897	ensembl	human	known	74_37	missense	SNP	0.000	A	A	11087529	C	A	11087529	3	1	50	1	0	0	0	0	1	0	0	0	9325	710	25	3	590	3	MASP2	1	11087529	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		11087529	238163092	1	2831											
DNAJC8	22826	genome.wustl.edu	37	chr1	28534923	28534923	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtttttttcgctctttcAcctaaaaagaattttttttc	3	7	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:28534923A>C	ENST00000263697.4	-	6	427	c.401T>G	c.(400-402)gTg>gGg	p.V134G	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	134					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTTTCACCTAAAAAGA	0.358																																																	0								ENSG00000126698						81	69	73					1																	28534923		1824	4086	5910	DNAJC8	SO:0001630	splice_region_variant	0			-	HGNC	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"Heat shock proteins / DNAJ (HSP40)"	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.400-1T>G	1.37:g.28534923A>C		Somatic	0	52	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V134G	ENST00000263697.4	37	c.401	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037384	0.54896	.	.	ENSG00000126698	ENST00000263697	T	0.64803	-0.12	5.92	5.92	0.95590	.	0.114747	0.64402	D	0.000015	T	0.54382	0.1855	L	0.44542	1.39	0.80722	D	1	B	0.24092	0.097	B	0.30029	0.11	T	0.54860	-0.8230	10	0.49607	T	0.09	-3.91	8.6592	0.34081	0.8583:0.0:0.1417:0.0	.	134	O75937	DNJC8_HUMAN	G	134	ENSP00000263697:V134G	ENSP00000263697:V134G	V	-	2	0	DNAJC8	28407510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.517000	0.67061	2.266000	0.75297	0.455000	0.32223	GTG	-	NULL		0.358	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	protein_coding	OTTHUMT00000009860.1	A	NM_014280	-	Missense_Mutation	28534923	-1	no_errors	ENST00000263697	ensembl	human	known	74_37	missense	SNP	1.000	C	C	28534923	A	C	28534923	5	2	50	1	0	0	0	0	0	0	1	0	4657	173	6	5	376	5	DNAJC8	1	28534923	Splice_Site	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	17447394	28534923	220715698	2	2832											
TCHHL1	126637	genome.wustl.edu	37	chr1	152057569	152057569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactctcatcaagtggAagtcccctggtatatggttg	12	9	2	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:152057569A>G	ENST00000368806.1	-	3	2653	c.2589T>C	c.(2587-2589)ctT>ctC	p.L863L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	863							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)			CATCAAGTGGAAGTCCCCTGG	0.507																																																	0								ENSG00000182898						167	155	159					1																	152057569		2203	4300	6503	TCHHL1	SO:0001819	synonymous_variant	0			-	HGNC		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.2589T>C	1.37:g.152057569A>G		Somatic	0	126	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	87	30.40	B2RPK8|Q5VTJ9	Silent	SNP							pfam_S100_Ca-bd_sub	p.L863	ENST00000368806.1	37	c.2589	CCDS30857.1	1																																																																																			-	NULL		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	A	XM_060104	-		152057569	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	silent	SNP	0.002	G	G	152057569	A	G	152057569	2	3	50	1	0	0	0	0	0	0	0	1	15708	233	9	5		5	TCHHL1	1	152057569	Silent	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	123522646	152057569	97193052	3	2833											
FAM5B	57795	genome.wustl.edu	37	chr1	177249986	177249986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccctgaagagcaacaaGtacaagcctgggctggtgca	11	12	1	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:177249986G>C	ENST00000361539.4	+	8	1986	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	558					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)	extracellular region (GO:0005576)											AGAGCAACAAGTACAAGCCTG	0.552																																																	0								ENSG00000198797						57	47	51					1																	177249986		2203	4300	6503	BRINP2	SO:0001583	missense	0			-	HGNC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1674G>C	1.37:g.177249986G>C	ENSP00000354481:p.Lys558Asn	Somatic	0	36	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	14	63.16	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.K558N	ENST00000361539.4	37	c.1674	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428776	0.43122	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.18810	2.19	5.36	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	M	0.68317	2.08	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.07635	-1.0762	10	0.39692	T	0.17	-27.5365	9.6307	0.39778	0.2905:0.0:0.7095:0.0	.	453;558	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	N	311;558	ENSP00000354481:K558N	ENSP00000354481:K558N	K	+	3	2	FAM5B	175516609	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.538000	0.36094	0.649000	0.30751	0.313000	0.20887	AAG	-	NULL		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	protein_coding	OTTHUMT00000084599.1	G	NM_021165	-		177249986	1	no_errors	ENST00000361539	ensembl	human	known	74_37	missense	SNP	1.000	C	C	177249986	G	C	177249986	3	2	50	1	0	0	0	0	1	0	0	0	5595	1020	36	4	1700	4	FAM5B	1	177249986	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	25192417	177249986	72000635	4	2834											
FAM129A	116496	genome.wustl.edu	37	chr1	184859248	184859248	+	Missense_Mutation	SNP	G	G	A													gatcagcaactcaccaagagGgtctgggaaatgcctgtcag							TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:184859248G>A	ENST00000367511.3	-	4	620	c.427C>T	c.(427-429)Cct>Tct	p.P143S		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	143					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACCAAGAGGGTCTGGGAAA	0.458																																																	0								ENSG00000135842						89	86	87					1																	184859248		2203	4300	6503	FAM129A	SO:0001583	missense	0			-	HGNC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.427C>T	1.37:g.184859248G>A	ENSP00000356481:p.Pro143Ser	Somatic	0	47	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP							NULL	p.P143S	ENST00000367511.3	37	c.427	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344569	0.82022	.	.	ENSG00000135842	ENST00000367511	T	0.15718	2.4	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000020	T	0.36496	0.0969	M	0.62723	1.935	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.04128	-1.0975	10	0.12766	T	0.61	-16.3166	15.358	0.74443	0.0:0.0:1.0:0.0	.	143	Q9BZQ8	NIBAN_HUMAN	S	143	ENSP00000356481:P143S	ENSP00000356481:P143S	P	-	1	0	FAM129A	183125871	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.784000	0.68990	2.687000	0.91594	0.655000	0.94253	CCT	-	NULL		0.458	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	protein_coding	OTTHUMT00000085786.1	G		-		184859248	-1	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	SNP	1.000	A	A	184859248	G	A	184859248	3	1	50	1	0	0	0	0	1	0	0	0	5438	1232	43	2	2403	2	FAM129A	1	184859248	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	7609262	184859248	64391373	5	2835	42	2									
FAM129A	116496	genome.wustl.edu	37	chr1	184859249	184859249	+	Missense_Mutation	SNP	G	G	C													atcagcaactcaccaagaggGtctgggaaatgcctgtcaga							TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:184859249G>C	ENST00000367511.3	-	4	619	c.426C>G	c.(424-426)gaC>gaG	p.D142E		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	142					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACCAAGAGGGTCTGGGAAAT	0.453																																																	0								ENSG00000135842						90	87	88					1																	184859249		2203	4300	6503	FAM129A	SO:0001583	missense	0			-	HGNC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.426C>G	1.37:g.184859249G>C	ENSP00000356481:p.Asp142Glu	Somatic	0	47	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	19	48.65	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP							NULL	p.D142E	ENST00000367511.3	37	c.426	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910893	0.72983	.	.	ENSG00000135842	ENST00000367511	T	0.16743	2.32	5.71	2.83	0.33086	.	0.048839	0.85682	D	0.000000	T	0.30665	0.0772	M	0.64997	1.995	0.40791	D	0.983259	D	0.89917	1.0	D	0.83275	0.996	T	0.19386	-1.0307	10	0.13470	T	0.59	-36.2116	8.0471	0.30555	0.2568:0.0:0.7432:0.0	.	142	Q9BZQ8	NIBAN_HUMAN	E	142	ENSP00000356481:D142E	ENSP00000356481:D142E	D	-	3	2	FAM129A	183125872	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.268000	0.18571	0.773000	0.33404	0.655000	0.94253	GAC	-	NULL		0.453	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	protein_coding	OTTHUMT00000085786.1	G		-		184859249	-1	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	SNP	1.000	C	C	184859249	G	C	184859249	3	2	50	1	0	0	0	0	1	0	0	0	5438	1252	44	4	2404	4	FAM129A	1	184859249	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	1	184859249	64391372	6	2836	42	2									
CRB1	23418	genome.wustl.edu	37	chr1	197396672	197396672	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatggagacaccatcagcctCtccatgtttgtccgaacgct	8	13	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:197396672C>A	ENST00000367400.3	+	7	2352	c.2217C>A	c.(2215-2217)ctC>ctA	p.L739L	CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.L220L|CRB1_ENST00000367399.2_Silent_p.L627L|CRB1_ENST00000535699.1_Silent_p.L670L|CRB1_ENST00000367397.1_Silent_p.L120L|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	739	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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						CCATCAGCCTCTCCATGTTTG	0.468																																																	0								ENSG00000134376						87	78	81					1																	197396672		2203	4300	6503	CRB1	SO:0001819	synonymous_variant	0			-	HGNC		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.2217C>A	1.37:g.197396672C>A		Somatic	0	43	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	35	43.55	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L739	ENST00000367400.3	37	c.2217	CCDS1390.1	1																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	C	NM_201253	-		197396672	1	no_errors	ENST00000367400	ensembl	human	known	74_37	silent	SNP	0.727	A	A	197396672	C	A	197396672	2	1	50	1	0	0	0	0	0	0	0	1	3850	900	32	3		3	CRB1	1	197396672	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	12537423	197396672	51853949	7	2837											
SRBD1	55133	genome.wustl.edu	37	chr2	45620241	45620241	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctttccaacctcataCagtgtccctccaatggatga	7	13	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:45620241C>A	ENST00000263736.4	-	20	2603	c.2541G>T	c.(2539-2541)ctG>ctT	p.L847L	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.L366L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	847					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CAACCTCATACAGTGTCCCTC	0.363																																																	0								ENSG00000068784						131	111	118					2																	45620241		2203	4300	6503	SRBD1	SO:0001819	synonymous_variant	0			-	HGNC	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2541G>T	2.37:g.45620241C>A		Somatic	0	46	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q53T56|Q96TA4|Q9NW11	Silent	SNP							pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L847	ENST00000263736.4	37	c.2541	CCDS1823.1	2																																																																																			-	NULL		0.363	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	protein_coding	OTTHUMT00000250747.3	C	NM_018079	-		45620241	-1	no_errors	ENST00000263736	ensembl	human	known	74_37	silent	SNP	0.007	A	A	45620241	C	A	45620241	2	1	50	1	0	0	0	0	0	0	0	1	15140	465	17	3		3	SRBD1	2	45620241	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		45620241	197579132	8	2838											
IL1F8	27177	genome.wustl.edu	37	chr2	113786528	113786528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactcaccttaagctgcaaAgtaggcttgccctgaatttc	7	12	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:113786528A>G	ENST00000259213.4	-	4	356	c.249T>C	c.(247-249)acT>acC	p.T83T	IL36B_ENST00000327407.2_Silent_p.T83T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	83					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						TAAGCTGCAAAGTAGGCTTGC	0.378																																																	0								ENSG00000136696						168	145	153					2																	113786528		2203	4300	6503	IL36B	SO:0001819	synonymous_variant	0			-	HGNC	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.249T>C	2.37:g.113786528A>G		Somatic	0	73	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	39	53.01	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Silent	SNP							superfamily_Cytokine_IL1-like	p.T83	ENST00000259213.4	37	c.249	CCDS2109.1	2																																																																																			-	superfamily_Cytokine_IL1-like		0.378	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	protein_coding	OTTHUMT00000254110.1	A	NM_014438	-		113786528	-1	no_errors	ENST00000259213	ensembl	human	known	74_37	silent	SNP	0.001	G	G	113786528	A	G	113786528	2	3	50	1	0	0	0	0	0	0	0	1	7658	59	3	5		5	IL1F8	2	113786528	Silent	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	68166287	113786528	129412845	9	2839											
LRP1B	53353	genome.wustl.edu	37	chr2	141298623	141298623	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgggagttaaaaggcacaAgtcatggcagcctccattca	10	9	2	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:141298623A>T	ENST00000389484.3	-	45	8403	c.7432T>A	c.(7432-7434)Ttg>Atg	p.L2478M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2478	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.L2478L(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)		AAAAGGCACAAGTCATGGCAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000168702						125	117	120					2																	141298623		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.7432T>A	2.37:g.141298623A>T	ENSP00000374135:p.Leu2478Met	Somatic	0	68	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L2478M	ENST00000389484.3	37	c.7432	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234072	0.79688	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	6.03	4.18	0.49190	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000009	D	0.94791	0.8318	M	0.84948	2.725	0.44155	D	0.996951	D	0.76494	0.999	D	0.85130	0.997	D	0.93869	0.7160	10	0.56958	D	0.05	.	9.1736	0.37098	0.2724:0.0:0.7276:0.0	.	2478	Q9NZR2	LRP1B_HUMAN	M	2478;2416	ENSP00000374135:L2478M	ENSP00000374135:L2478M	L	-	1	2	LRP1B	141015093	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.193000	0.50997	0.882000	0.36016	-0.177000	0.13119	TTG	-	smart_EG-like_dom		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	A	NM_018557	-		141298623	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141298623	A	T	141298623	3	4	50	1	0	0	0	0	1	0	0	0	8957	69	3	5	6555	5	LRP1B	2	141298623	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	27512095	141298623	101900750	10	2840											
TTN	7273	genome.wustl.edu	37	chr2	179451905	179451905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggacgccagggccatattCgttgacagcagttactctga	12	10	1	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:179451905C>T	ENST00000591111.1	-	257	59334	c.59110G>A	c.(59110-59112)Gaa>Aaa	p.E19704K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18777K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12280K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12405K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12472K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21345K			Q8WZ42	TITIN_HUMAN	titin	19704	Fibronectin type-III 42. {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)			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)			GGGCCATATTCGTTGACAGCA	0.453																																																	0								ENSG00000155657						194	196	195					2																	179451905		1952	4134	6086	TTN	SO:0001583	missense	0			-	HGNC	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.59110G>A	2.37:g.179451905C>T	ENSP00000465570:p.Glu19704Lys	Somatic	0	60	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	42	19.23	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E18777K	ENST00000591111.1	37	c.56329		2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516644	0.85495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35364	0.0929	N	0.04959	-0.14	0.58432	D	0.999999	B;B;B;B	0.34147	0.438;0.438;0.438;0.438	B;B;B;B	0.27887	0.084;0.084;0.084;0.084	T	0.39860	-0.9593	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12280;12405;12472;19704	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18777;12280;12472;12405;12278	ENSP00000343764:E18777K;ENSP00000434586:E12280K;ENSP00000340554:E12472K;ENSP00000352154:E12405K	ENSP00000340554:E12472K	E	-	1	0	TTN	179160151	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.787000	0.55439	2.835000	0.97688	0.650000	0.86243	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179451905	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179451905	C	T	179451905	3	4	50	1	0	0	0	0	1	0	0	0	16742	893	31	1	44170	1	TTN	2	179451905	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	38153282	179451905	63747468	11	2841											
ITGA4	3676	genome.wustl.edu	37	chr2	182346351	182346351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtcggagctggtcattttCggagccagcatactaccgaa	11	11	1	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:182346351C>T	ENST00000397033.2	+	7	1211	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	261					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGGTCATTTTCGGAGCCAGCA	0.383																																																	0								ENSG00000115232						61	57	58					2																	182346351		1814	4083	5897	ITGA4	SO:0001583	missense	0			-	HGNC		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.781C>T	2.37:g.182346351C>T	ENSP00000380227:p.Arg261Trp	Somatic	0	65	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D3DPG4|Q7Z4L6	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R261W	ENST00000397033.2	37	c.781	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749299	0.30955	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.71579	-0.58;-0.58	5.54	3.72	0.42706	.	0.717535	0.13491	N	0.383966	T	0.61850	0.2380	L	0.43152	1.355	0.28421	N	0.917743	B;B	0.12630	0.004;0.006	B;B	0.06405	0.002;0.002	T	0.53563	-0.8421	10	0.38643	T	0.18	.	10.4261	0.44378	0.0:0.7862:0.0:0.2138	.	261;261	E7EP60;P13612	.;ITA4_HUMAN	W	261	ENSP00000380227:R261W;ENSP00000233573:R261W	ENSP00000233573:R261W	R	+	1	2	ITGA4	182054596	0.813000	0.29090	0.289000	0.24876	0.391000	0.30476	1.053000	0.30442	0.667000	0.31107	0.591000	0.81541	CGG	-	smart_Int_alpha_beta-p		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	protein_coding	OTTHUMT00000334427.1	C		-		182346351	1	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	SNP	0.961	T	T	182346351	C	T	182346351	3	4	50	1	0	0	0	0	1	0	0	0	7880	875	31	1	807	1	ITGA4	2	182346351	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	2894446	182346351	60853022	12	2842											
SGOL2	151246	genome.wustl.edu	37	chr2	201435917	201435917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcatcttgggaatcaaAtaatctttctgcagacactc	8	9	5	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:201435917A>G	ENST00000357799.4	+	7	946	c.848A>G	c.(847-849)aAt>aGt	p.N283S		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	283					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGGGAATCAAATAATCTTTCT	0.398																																																	0								ENSG00000163535						141	131	134					2																	201435917		1880	4114	5994	SGOL2	SO:0001583	missense	0			-	HGNC	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.848A>G	2.37:g.201435917A>G	ENSP00000350447:p.Asn283Ser	Somatic	0	25	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP							NULL	p.N283S	ENST00000357799.4	37	c.848	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	A	9.916	1.210725	0.22289	.	.	ENSG00000163535	ENST00000357799	T	0.13089	2.62	5.02	-1.69	0.08186	.	1.454290	0.03960	N	0.289922	T	0.08980	0.0222	L	0.34521	1.04	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.004;0.004;0.004	T	0.31166	-0.9953	10	0.21014	T	0.42	0.4011	1.452	0.02377	0.4416:0.2631:0.1671:0.1281	.	283;283;283	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	S	283	ENSP00000350447:N283S	ENSP00000350447:N283S	N	+	2	0	SGOL2	201144162	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.035000	0.12205	-0.167000	0.10871	0.528000	0.53228	AAT	-	NULL		0.398	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	protein_coding	OTTHUMT00000335834.1	A	NM_152524	-		201435917	1	no_errors	ENST00000357799	ensembl	human	known	74_37	missense	SNP	0.000	G	G	201435917	A	G	201435917	3	3	50	1	0	0	0	0	1	0	0	0	14225	101	4	5	870	5	SGOL2	2	201435917	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	19089566	201435917	41763456	13	2843											
ARPP21	10777	genome.wustl.edu	37	chr3	35835202	35835202	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctttttacaggtgccaatgAcccagggttctcaaggactg	10	10	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:35835202A>T	ENST00000187397.4	+	20	2647	c.2191A>T	c.(2191-2193)Acc>Tcc	p.T731S	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.T732S|ARPP21_ENST00000444190.1_Missense_Mutation_p.T712S|ARPP21_ENST00000337271.5_Missense_Mutation_p.T712S|ARPP21_ENST00000458225.1_Missense_Mutation_p.T732S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	731	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGTGCCAATGACCCAGGGTTC	0.458																																																	0								ENSG00000172995						71	73	72					3																	35835202		2203	4300	6503	ARPP21	SO:0001583	missense	0			-	HGNC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2191A>T	3.37:g.35835202A>T	ENSP00000187397:p.Thr731Ser	Somatic	0	106	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	88	32.33	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.T732S	ENST00000187397.4	37	c.2194	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945957	0.34377	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.22743	1.94;1.95;1.95;1.94;1.94	6.03	4.83	0.62350	.	0.079177	0.53938	D	0.000048	T	0.28366	0.0701	L	0.51422	1.61	0.28392	N	0.91906	P;D;P;P	0.56968	0.783;0.978;0.677;0.94	P;P;B;P	0.53954	0.461;0.738;0.254;0.616	T	0.07252	-1.0782	10	0.15066	T	0.55	-19.7288	12.2373	0.54522	0.7336:0.2664:0.0:0.0	.	732;254;731;712	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	S	732;712;712;731;732	ENSP00000414351:T732S;ENSP00000337792:T712S;ENSP00000405276:T712S;ENSP00000187397:T731S;ENSP00000412326:T732S	ENSP00000187397:T731S	T	+	1	0	ARPP21	35810206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.084000	0.50143	2.302000	0.77476	0.533000	0.62120	ACC	-	NULL		0.458	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	protein_coding	OTTHUMT00000253334.2	A	NM_198399	-		35835202	1	no_errors	ENST00000417925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35835202	A	T	35835202	3	4	50	1	0	0	0	0	1	0	0	0	978	275	10	5	2274	5	ARPP21	3	35835202	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09		35835202	162187228	14	2844											
FRMD4B	23150	genome.wustl.edu	37	chr3	69299250	69299250	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctacttcgatttgccCctgttgatggaaaaggaaag	10	9	1	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:69299250C>T	ENST00000398540.3	-	6	585	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	FRMD4B_ENST00000542259.1_Splice_Site_p.G114R	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	168	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCGATTTGCCCCTGTTGATGG	0.458																																																	0								ENSG00000114541						257	248	251					3																	69299250		1944	4140	6084	FRMD4B	SO:0001630	splice_region_variant	0			-	HGNC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.502-1G>A	3.37:g.69299250C>T		Somatic	0	99	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	74	24.49	Q8TAI3	Missense_Mutation	SNP							pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.G168R	ENST00000398540.3	37	c.502	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648224	0.67358	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880;ENST00000473029;ENST00000460709	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.33	5.33	0.75918	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.114804	0.64402	D	0.000016	D	0.89543	0.6745	M	0.78049	2.395	0.49798	D	0.999828	D;D	0.89917	1.0;0.966	D;P	0.97110	1.0;0.889	D	0.90037	0.4139	10	0.59425	D	0.04	-20.9889	16.2906	0.82750	0.0:1.0:0.0:0.0	.	12;168	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	R	168;114;59;114;114	ENSP00000381549:G168R;ENSP00000437658:G114R;ENSP00000418962:G59R;ENSP00000418373:G114R;ENSP00000418023:G114R	ENSP00000381549:G168R	G	-	1	0	FRMD4B	69381940	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.570000	0.60872	2.657000	0.90304	0.591000	0.81541	GGG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.458	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	protein_coding	OTTHUMT00000352111.1	C		-	Missense_Mutation	69299250	-1	no_errors	ENST00000398540	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69299250	C	T	69299250	5	4	50	1	0	0	0	0	0	0	1	0	6054	637	22	2	2674	2	FRMD4B	3	69299250	Splice_Site	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	33464048	69299250	128723180	15	2845											
SLC9A9	285195	genome.wustl.edu	37	chr3	143551065	143551066	+	Splice_Site	INS	-	-	A													ttagtcccattataaggcctINSaaaaaaaaaagaataaataa					rs373202846|rs537840717	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:143551065_143551066insA	ENST00000316549.6	-	2	384		c.e2-2			NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9						ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATAAGGCCTAAAAAAAAAAG	0.347																																																	0								ENSG00000181804																																			SLC9A9	SO:0001630	splice_region_variant	0				HGNC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.176-2->T	3.37:g.143551075_143551075dupA		Somatic	0	27	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Splice_Site	INS							-	e2-2	ENST00000316549.6	37	c.176-3_176-2	CCDS33872.1	3																																																																																			-	-		0.347	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	protein_coding	OTTHUMT00000354994.1	-	NM_173653		Intron	143551066	-1	no_errors	ENST00000316549	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.997	A	A	143551066	-	A	143551065	8	5	50	1	0	1	1	0	0	0	1	0	14729	1536	53	0	1823	0	SLC9A9	3	143551065	Splice_Site	INS	-	TCGA-DX-A3U9-01A-11D-A307-09	74251815	143551065	54471365	16	2846											
ECT2	1894	genome.wustl.edu	37	chr3	172480561	172480561	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagtaaaagatcttccctttGaaccttcaaagaaactttat	4	8	2	3			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:172480561G>C	ENST00000392692.3	+	10	1146	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	ECT2_ENST00000232458.5_Missense_Mutation_p.E293Q|ECT2_ENST00000427830.1_Missense_Mutation_p.E293Q|ECT2_ENST00000441497.2_Missense_Mutation_p.E293Q|ECT2_ENST00000540509.1_Missense_Mutation_p.E324Q|ECT2_ENST00000417960.1_Missense_Mutation_p.E292Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	324	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTCCCTTTGAACCTTCAAA	0.323																																																	0								ENSG00000114346						92	94	93					3																	172480561		2203	4298	6501	ECT2	SO:0001583	missense	0			-	HGNC	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.970G>C	3.37:g.172480561G>C	ENSP00000376457:p.Glu324Gln	Somatic	0	55	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP							pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.E293Q	ENST00000392692.3	37	c.877	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563633	0.27915	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.84	5.84	0.93424	BRCT (1);	0.224065	0.47852	D	0.000212	T	0.71600	0.3359	L	0.33485	1.01	0.46478	D	0.999062	B;B;B;B	0.25609	0.032;0.13;0.032;0.108	B;B;B;B	0.29524	0.041;0.103;0.064;0.089	T	0.64816	-0.6318	10	0.19590	T	0.45	-23.2438	20.1294	0.97995	0.0:0.0:1.0:0.0	.	324;324;293;292	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	293;324;293;292;293;324	ENSP00000232458:E293Q;ENSP00000376457:E324Q;ENSP00000401910:E293Q;ENSP00000415876:E292Q;ENSP00000412259:E293Q;ENSP00000443160:E324Q	ENSP00000232458:E293Q	E	+	1	0	ECT2	173963255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.389000	0.66255	2.758000	0.94735	0.591000	0.81541	GAA	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	protein_coding	OTTHUMT00000345994.2	G	NM_018098	-		172480561	1	no_errors	ENST00000427830	ensembl	human	known	74_37	missense	SNP	1.000	C	C	172480561	G	C	172480561	3	2	50	1	0	0	0	0	1	0	0	0	4903	1291	45	4	907	4	ECT2	3	172480561	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	28929496	172480561	25541869	17	2847											
BOD1L	259282	genome.wustl.edu	37	chr4	13588097	13588097	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccaggacatctggattatCatctgtaaatcagtttagac	7	8	4	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:13588097C>T	ENST00000040738.5	-	17	8491	c.8356G>A	c.(8356-8358)Gat>Aat	p.D2786N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2786						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGGATTATCATCTGTAAAT	0.353																																																	0								ENSG00000038219						79	75	76					4																	13588097		2203	4300	6503	BOD1L1	SO:0001583	missense	0			-	HGNC	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.8356G>A	4.37:g.13588097C>T	ENSP00000040738:p.Asp2786Asn	Somatic	0	51	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	44	38.89	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP							NULL	p.D2786N	ENST00000040738.5	37	c.8356	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581079	0.65992	.	.	ENSG00000038219	ENST00000040738	T	0.07216	3.21	5.35	4.49	0.54785	.	0.491635	0.19410	N	0.114949	T	0.05914	0.0154	N	0.19112	0.55	0.24171	N	0.995624	B	0.20550	0.046	B	0.18263	0.021	T	0.19289	-1.0310	10	0.72032	D	0.01	-9.833	8.1364	0.31056	0.0:0.8385:0.0:0.1615	.	2786	Q8NFC6	BOD1L_HUMAN	N	2786	ENSP00000040738:D2786N	ENSP00000040738:D2786N	D	-	1	0	BOD1L	13197195	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.827000	0.39102	2.780000	0.95670	0.650000	0.86243	GAT	-	NULL		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	C	NM_148894	-		13588097	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	SNP	0.991	T	T	13588097	C	T	13588097	3	4	50	1	0	0	0	0	1	0	0	0	1483	826	29	2	839	2	BOD1L	4	13588097	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		13588097	177566179	18	2848											
CHRNA9	55584	genome.wustl.edu	37	chr4	40339266	40339266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgcttatttgtggatcCgccaaatctggcacgatgcc	10	11	1	1	rs534300891		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:40339266C>T	ENST00000310169.2	+	3	389	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTTGTGGATCCGCCAAATCTG	0.478													C|||	1	0.000199681	0	0.0014	5008	,	,		20936	0		0	False		,,,				2504	0				Esophageal Squamous(115;1297 1602 22235 25158 43327)												0								ENSG00000174343						104	81	89					4																	40339266		2203	4300	6503	CHRNA9	SO:0001583	missense	0			-	HGNC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.250C>T	4.37:g.40339266C>T	ENSP00000312663:p.Arg84Cys	Somatic	0	43	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R84C	ENST00000310169.2	37	c.250	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000174343	ENST00000310169	T	0.80566	-1.39	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046822	0.85682	D	0.000000	D	0.92163	0.7515	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92890	0.6330	10	0.87932	D	0	.	20.1175	0.97942	0.0:1.0:0.0:0.0	.	84	Q9UGM1	ACHA9_HUMAN	C	84	ENSP00000312663:R84C	ENSP00000312663:R84C	R	+	1	0	CHRNA9	40034023	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.817000	0.48034	2.771000	0.95319	0.591000	0.81541	CGC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.478	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	protein_coding	OTTHUMT00000216822.1	C		-		40339266	1	no_errors	ENST00000310169	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40339266	C	T	40339266	3	4	50	1	0	0	0	0	1	0	0	0	3391	652	23	1	260	1	CHRNA9	4	40339266	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	26751169	40339266	150815010	19	2849											
FRAS1	80144	genome.wustl.edu	37	chr4	79403057	79403057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccagcttctgccacacCaggagttgactacgttccca	8	15	1	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:79403057C>T	ENST00000264895.6	+	57	8983	c.8543C>T	c.(8542-8544)cCa>cTa	p.P2848L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2844	Calx-beta 3.				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						TCTGCCACACCAGGAGTTGAC	0.537																																																	0								ENSG00000138759						129	134	133					4																	79403057		1954	4142	6096	FRAS1	SO:0001583	missense	0			-	HGNC	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	ENST00000264895.6:c.8543C>T	4.37:g.79403057C>T	ENSP00000264895:p.Pro2848Leu	Somatic	0	64	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	29	62.34	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.P2848L	ENST00000264895.6	37	c.8543	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162488	0.78226	.	.	ENSG00000138759	ENST00000264895	T	0.28666	1.6	5.69	5.69	0.88448	.	0.058912	0.64402	D	0.000001	T	0.56992	0.2023	M	0.72479	2.2	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	T	0.57871	-0.7736	10	0.72032	D	0.01	.	19.8771	0.96880	0.0:1.0:0.0:0.0	.	2848	E9PHH6	.	L	2848	ENSP00000264895:P2848L	ENSP00000264895:P2848L	P	+	2	0	FRAS1	79622081	1.000000	0.71417	0.998000	0.56505	0.118000	0.20060	7.709000	0.84645	2.687000	0.91594	0.650000	0.86243	CCA	-	pfam_Calx_beta,smart_Calx_beta		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		C		-		79403057	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79403057	C	T	79403057	3	4	50	1	0	0	0	0	1	0	0	0	6044	594	21	2	8844	2	FRAS1	4	79403057	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	39063791	79403057	111751219	20	2850											
DCHS2	54798	genome.wustl.edu	37	chr4	155244445	155244445	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttttgcacgactgcttcCcaaatgctgtttttcccttc	6	12	0	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:155244445C>A	ENST00000357232.4	-	13	2653				DCHS2_ENST00000339452.1_Missense_Mutation_p.G1352V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						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)		CGACTGCTTCCCAAATGCTGT	0.408																																																	0								ENSG00000197410						78	59	65					4																	155244445		692	1591	2283	DCHS2	SO:0001627	intron_variant	0			-	HGNC	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.2654-805G>T	4.37:g.155244445C>A		Somatic	0	48	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1352V	ENST00000357232.4	37	c.4055	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	0.410	-0.913673	0.02415	.	.	ENSG00000197410	ENST00000339452;ENST00000544161	T	0.58506	0.33	2.27	-4.54	0.03452	.	.	.	.	.	T	0.36826	0.0981	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	9	0.87932	D	0	.	10.8587	0.46815	0.2654:0.7346:0.0:0.0	.	1352	E9PC11	.	V	1352	ENSP00000345062:G1352V	ENSP00000345062:G1352V	G	-	2	0	DCHS2	155463895	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.522000	0.06237	-1.127000	0.02925	-1.956000	0.00482	GGG	-	NULL		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552	-		155244445	-1	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	SNP	0.000	A	A	155244445	C	A	155244445	1	1	50	0	1	0	0	0	0	0	0	0	4290	623	22	3		3	DCHS2	4	155244445	Intron	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	75841388	155244445	35909831	21	2851											
GALNTL6	442117	genome.wustl.edu	37	chr4	173873290	173873290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacgggggacatctctgccCagaaggagctgcgcaagcag	14	13	1	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:173873290C>A	ENST00000506823.1	+	10	1909	c.1252C>A	c.(1252-1254)Cag>Aag	p.Q418K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.Q401K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	418					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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCTCTGCCCAGAAGGAGCT	0.582																																																	0								ENSG00000174473						58	60	59					4																	173873290		2203	4300	6503	GALNTL6	SO:0001583	missense	0			-	HGNC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1252C>A	4.37:g.173873290C>A	ENSP00000423313:p.Gln418Lys	Somatic	0	145	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	111	31.90	Q2L4S6	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q418K	ENST00000506823.1	37	c.1252	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	c	25.4	4.633572	0.87660	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68025	-0.3;-0.3	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	M	0.91459	3.21	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.88172	0.2865	10	0.66056	D	0.02	.	19.4536	0.94878	0.0:1.0:0.0:0.0	.	418	Q49A17	GLTL6_HUMAN	K	418;401	ENSP00000423313:Q418K;ENSP00000423827:Q401K	ENSP00000423313:Q418K	Q	+	1	0	GALNTL6	174109865	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.747000	0.85070	2.668000	0.90789	0.478000	0.44815	CAG	-	NULL		0.582	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	C	NM_001034845	-		173873290	1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	SNP	1.000	A	A	173873290	C	A	173873290	3	1	50	1	0	0	0	0	1	0	0	0	6227	595	21	3	1286	3	GALNTL6	4	173873290	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	18628845	173873290	17280986	22	2852											
KIAA1712	80817	genome.wustl.edu	37	chr4	175225412	175225412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagattccatcacaacaAagaaagaaaatcagttctgg	6	7	3	3			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:175225412A>G	ENST00000503780.1	+	6	813	c.399A>G	c.(397-399)caA>caG	p.Q133Q	CEP44_ENST00000457424.2_Silent_p.Q133Q|CEP44_ENST00000296519.4_Silent_p.Q133Q|CEP44_ENST00000426172.1_Silent_p.Q133Q	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	133						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CATCACAACAAAGAAAGAAAA	0.313																																																	0								ENSG00000164118						59	63	62					4																	175225412		2203	4300	6503	CEP44	SO:0001819	synonymous_variant	0			-	HGNC	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"KIAA1712"	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.399A>G	4.37:g.175225412A>G		Somatic	0	41	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Silent	SNP							NULL	p.Q133	ENST00000503780.1	37	c.399	CCDS34106.1	4																																																																																			-	NULL		0.313	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP44	protein_coding	OTTHUMT00000362109.2	A	NM_030633	-		175225412	1	no_errors	ENST00000426172	ensembl	human	known	74_37	silent	SNP	0.982	G	G	175225412	A	G	175225412	2	3	50	1	0	0	0	0	0	0	0	1	8255	11	1	5		5	KIAA1712	4	175225412	Silent	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	1352122	175225412	15928864	23	2853											
BTNL8	79908	genome.wustl.edu	37	chr5	180377117	180377117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgcgtgggagtgtgccGggatgatgtggacaggagga	22	5	0	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr5:180377117G>A	ENST00000340184.4	+	8	1282	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R243Q|BTNL8_ENST00000533815.2_Missense_Mutation_p.R175Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R234Q|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.R152Q	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R359Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGTGTGCCGGGATGATGTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000113303						148	146	147					5																	180377117		2123	3926	6049	BTNL8	SO:0001583	missense	0			-	HGNC	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1076G>A	5.37:g.180377117G>A	ENSP00000342197:p.Arg359Gln	Somatic	0	57	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	32	56.16	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.R359Q	ENST00000340184.4	37	c.1076	CCDS43413.1	5	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953311	0.18431	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	1.89	0.913	0.19354	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.62011	0.2393	L	0.37800	1.135	0.09310	N	1	P;D;B	0.57257	0.896;0.979;0.253	B;P;B	0.51582	0.16;0.674;0.041	T	0.50508	-0.8820	9	0.31617	T	0.26	.	2.4348	0.04480	0.1838:0.0:0.5198:0.2963	.	234;243;359	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	Q	359;234;243;152;175	ENSP00000342197:R359Q;ENSP00000383543:R234Q;ENSP00000425207:R243Q;ENSP00000427441:R152Q;ENSP00000435098:R175Q	ENSP00000342197:R359Q	R	+	2	0	BTNL8	180309723	0.013000	0.17824	0.151000	0.22473	0.260000	0.26232	0.475000	0.22164	0.111000	0.17947	0.430000	0.28490	CGG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY		0.498	BTNL8-002	KNOWN	basic|CCDS	protein_coding	BTNL8	protein_coding	OTTHUMT00000368440.1	G	NM_024850	-		180377117	1	no_errors	ENST00000340184	ensembl	human	known	74_37	missense	SNP	0.042	A	A	180377117	G	A	180377117	3	1	50	1	0	0	0	0	1	0	0	0	1569	1116	39	1	1262	1	BTNL8	5	180377117	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		180377117	538143	24	2854											
SCAND3	114821	genome.wustl.edu	37	chr6	28542992	28542992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatgaaccacaaaaatTcagtccagtgtgatgagttg	9	7	2	4			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:28542992T>G	ENST00000452236.2	-	3	2107	c.1490A>C	c.(1489-1491)gAa>gCa	p.E497A	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						CCACAAAAATTCAGTCCAGTG	0.443																																																	0								ENSG00000232040						129	128	128					6																	28542992		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.1490A>C	6.37:g.28542992T>G	ENSP00000395259:p.Glu497Ala	Somatic	0	22	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.E497A	ENST00000452236.2	37	c.1490	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266641	0.40095	.	.	ENSG00000232040	ENST00000452236	T	0.46063	0.88	3.37	2.14	0.27477	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.19805	0.0476	M	0.65498	2.005	0.23277	N	0.997996	B	0.22800	0.075	B	0.17433	0.018	T	0.28459	-1.0043	9	0.56958	D	0.05	.	6.5009	0.22168	0.0:0.0:0.2503:0.7497	.	497	Q6R2W3	SCND3_HUMAN	A	497	ENSP00000395259:E497A	ENSP00000395259:E497A	E	-	2	0	SCAND3	28650971	0.998000	0.40836	0.972000	0.41901	0.713000	0.41058	1.756000	0.38390	0.465000	0.27167	0.379000	0.24179	GAA	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.443	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	T		-		28542992	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	0.983	G	G	28542992	T	G	28542992	3	3	50	1	0	0	0	0	1	0	0	0	13884	1783	62	5	2495	5	SCAND3	6	28542992	Missense_Mutation	SNP	T	TCGA-DX-A3U9-01A-11D-A307-09		28542992	142572075	25	2855											
CYP21A2	1589	genome.wustl.edu	37	chr6	32008845	32008845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtcatcctcaagatGcagcctttccaagtgcggct	10	12	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:32008845G>A	ENST00000418967.2	+	10	1580	c.1422G>A	c.(1420-1422)atG>atA	p.M474I	CYP21A2_ENST00000435122.2_Missense_Mutation_p.M444I	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	473					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCCTCAAGATGCAGCCTTTCC	0.697																																					Melanoma(174;1669 1998 3915 34700 46447)												0								ENSG00000231852						7	7	7					6																	32008845		1264	2434	3698	CYP21A2	SO:0001583	missense	0			-	HGNC	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1422G>A	6.37:g.32008845G>A	ENSP00000408860:p.Met474Ile	Somatic	0	32	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.M474I	ENST00000418967.2	37	c.1422	CCDS4735.1	6	.	.	.	.	.	.	.	.	.	.	g	2.495	-0.316623	0.05422	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.78924	-1.22;-1.22	5.44	-4.46	0.03536	.	1.031490	0.07677	N	0.936495	T	0.21718	0.0523	N	0.02315	-0.6	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.11767	-1.0574	10	0.17369	T	0.5	.	4.1678	0.10315	0.0755:0.3141:0.1665:0.4439	.	444;474	Q5ST44;Q16874	.;.	I	474;444	ENSP00000408860:M474I;ENSP00000415043:M444I	ENSP00000408860:M474I	M	+	3	0	CYP21A2	32116824	0.000000	0.05858	0.007000	0.13788	0.035000	0.12851	-0.217000	0.09253	-0.450000	0.07107	-0.871000	0.02989	ATG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.697	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	protein_coding	OTTHUMT00000268768.2	G	NM_000500	-		32008845	1	no_errors	ENST00000418967	ensembl	human	known	74_37	missense	SNP	0.000	A	A	32008845	G	A	32008845	3	1	50	1	0	0	0	0	1	0	0	0	4155	1319	46	2	2981	2	CYP21A2	6	32008845	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	3465853	32008845	139106222	26	2856											
EPHA7	2045	genome.wustl.edu	37	chr6	93964481	93964481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccggtactggatggcttCgggtgctgtccaccttactg	12	11	0	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:93964481C>T	ENST00000369303.4	-	14	2600	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	806	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)		TGGATGGCTTCGGGTGCTGTC	0.368																																																	0								ENSG00000135333						113	97	103					6																	93964481		2203	4300	6503	EPHA7	SO:0001583	missense	0			-	HGNC	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.2416G>A	6.37:g.93964481C>T	ENSP00000358309:p.Glu806Lys	Somatic	0	37	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E806K	ENST00000369303.4	37	c.2416	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.678301	0.96764	.	.	ENSG00000135333	ENST00000369303	D	0.84370	-1.84	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.103813	0.64402	D	0.000005	D	0.95705	0.8603	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;1.0;1.0	D	0.97370	0.9975	10	0.87932	D	0	.	19.1563	0.93511	0.0:1.0:0.0:0.0	.	802;801;806	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	806	ENSP00000358309:E806K	ENSP00000358309:E806K	E	-	1	0	EPHA7	94021202	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.715000	0.84713	2.542000	0.85734	0.655000	0.94253	GAA	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	C		-		93964481	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93964481	C	T	93964481	3	4	50	1	0	0	0	0	1	0	0	0	5174	893	31	1	596	1	EPHA7	6	93964481	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	61955636	93964481	77150586	27	2857											
HS3ST5	222537	genome.wustl.edu	37	chr6	114383953	114383953	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacaggagactcccaacggcAaggcttcccagcaccaggag	11	14	0	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:114383953A>T	ENST00000312719.5	-	4	1245	c.57T>A	c.(55-57)ctT>ctA	p.L19L	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L19L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	19					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCCAACGGCAAGGCTTCCCA	0.527																																																	0								ENSG00000249853						140	137	138					6																	114383953		2203	4300	6503	HS3ST5	SO:0001819	synonymous_variant	0			-	HGNC	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.57T>A	6.37:g.114383953A>T		Somatic	0	50	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	50	37.50	A8K1J2|Q52LI2|Q8N285	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L19	ENST00000312719.5	37	c.57	CCDS34517.1	6																																																																																			-	NULL		0.527	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	protein_coding	OTTHUMT00000041911.2	A	NM_153612	-		114383953	-1	no_errors	ENST00000312719	ensembl	human	known	74_37	silent	SNP	1.000	T	T	114383953	A	T	114383953	2	4	50	1	0	0	0	0	0	0	0	1	7370	117	5	5		5	HS3ST5	6	114383953	Silent	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	20419472	114383953	56731114	28	2858											
ARHGAP18	93663	genome.wustl.edu	37	chr6	129939838	129939838	+	Frame_Shift_Del	DEL	T	T	-													catttcatgattaccttttgTtttgattttcacagcttttt							TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:129939838delT	ENST00000368149.2	-	6	1034	c.946delA	c.(946-948)acafs	p.T316fs		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)		TTACCTTTTGTTTTGATTTTC	0.373																																																	0								ENSG00000146376						81	69	73					6																	129939838		2200	4295	6495	ARHGAP18	SO:0001589	frameshift_variant	0				HGNC	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.946delA	6.37:g.129939838delT	ENSP00000357131:p.Thr316fs	Somatic	0	108	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	76	46.48		Frame_Shift_Del	DEL							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T316fs	ENST00000368149.2	37	c.946	CCDS34535.1	6																																																																																			-	superfamily_Rho_GTPase_activation_prot		0.373	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	protein_coding	OTTHUMT00000042185.2	T	NM_033515			129939838	-1	no_errors	ENST00000368149	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	129939838	T	-	129939838	7	5	50	1	0	1	0	1	0	0	0	0	868	1725	60	0	1085	0	ARHGAP18	6	129939838	Frame_Shift_Del	DEL	T	TCGA-DX-A3U9-01A-11D-A307-09	15555885	129939838	41175229	29	2859											
LPA	4018	genome.wustl.edu	37	chr6	161010662	161010662	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gactgacatgtccttcctgtAacagtggtggagaatgagcc	12	9	0	3	rs373702099		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:161010662A>T	ENST00000316300.5	-	24	3914	c.3870T>A	c.(3868-3870)gtT>gtA	p.V1290V	LPA_ENST00000447678.1_Silent_p.V1290V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3798	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				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)	TCCTTCCTGTAACAGTGGTGG	0.488																																																	0								ENSG00000198670						170	175	174					6																	161010662		2184	4294	6478	LPA	SO:0001819	synonymous_variant	0			-	HGNC	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.3870T>A	6.37:g.161010662A>T		Somatic	0	93	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	126	31.15	Q5VTD7|Q9UD88	Silent	SNP							pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.V1290	ENST00000316300.5	37	c.3870	CCDS43523.1	6																																																																																			-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.488	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	protein_coding	OTTHUMT00000042957.1	A	NM_005577	-		161010662	-1	no_errors	ENST00000316300	ensembl	human	known	74_37	silent	SNP	0.288	T	T	161010662	A	T	161010662	2	4	50	1	0	0	0	0	0	0	0	1	8905	349	13	5		5	LPA	6	161010662	Silent	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	31070824	161010662	10104405	30	2860											
SNX13	23161	genome.wustl.edu	37	chr7	17861150	17861150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgttcagtgattctcatGtggaagtcatggaagtcact	10	8	4	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:17861150G>A	ENST00000409389.1	-	18	2032	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	SNX13_ENST00000428135.3_Silent_p.H609H|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	620	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGATTCTCATGTGGAAGTCAT	0.373																																																	0								ENSG00000071189						160	155	157					7																	17861150		1895	4108	6003	SNX13	SO:0001819	synonymous_variant	0			-	HGNC	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1860C>T	7.37:g.17861150G>A		Somatic	0	77	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	96	10.28	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP							pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.H609	ENST00000409389.1	37	c.1827		7																																																																																			-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.373	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	protein_coding	OTTHUMT00000327608.1	G	NM_015132	-		17861150	-1	no_errors	ENST00000428135	ensembl	human	known	74_37	silent	SNP	1.000	A	A	17861150	G	A	17861150	2	1	50	1	0	0	0	0	0	0	0	1	14892	1368	48	2		2	SNX13	7	17861150	Silent	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		17861150	141277513	31	2861											
SRRT	51593	genome.wustl.edu	37	chr7	100478923	100478923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagagtgggaccgtggccGtgagcgccgtagtcggggtg	20	9	0	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:100478923G>A	ENST00000347433.4	+	3	298	c.140G>A	c.(139-141)cGt>cAt	p.R47H	SRRT_ENST00000457580.2_Missense_Mutation_p.R47H|SRRT_ENST00000388793.4_Missense_Mutation_p.R47H|SRRT_ENST00000432932.1_Missense_Mutation_p.R47H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	47	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCGTGGCCGTGAGCGCCGT	0.582																																																	0								ENSG00000087087						97	87	91					7																	100478923		2203	4300	6503	SRRT	SO:0001583	missense	0			-	HGNC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.140G>A	7.37:g.100478923G>A	ENSP00000314491:p.Arg47His	Somatic	0	61	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP							pfam_Arsenite-R_2,pfam_DUF3546	p.R47H	ENST00000347433.4	37	c.140	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389419	0.61956	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.67785	0.2930	L	0.51422	1.61	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.991;0.98	T	0.62086	-0.6928	9	0.14656	T	0.56	.	15.3558	0.74425	0.0:0.0:1.0:0.0	.	47;47;47;47	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	H	47;47;47;47;54	.	ENSP00000314491:R47H	R	+	2	0	SRRT	100316859	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.871000	0.92346	2.273000	0.75805	0.585000	0.79938	CGT	-	NULL		0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	protein_coding	OTTHUMT00000347168.1	G	NM_015908	-		100478923	1	no_errors	ENST00000388793	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100478923	G	A	100478923	3	1	50	1	0	0	0	0	1	0	0	0	15179	1145	40	1	146	1	SRRT	7	100478923	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	82617773	100478923	58659740	32	2862											
CSMD1	64478	genome.wustl.edu	37	chr8	4494979	4494979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctattgcgctcgcccgtgaTgatgatccaggtgcagttgg	13	11	0	3			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:4494979T>C	ENST00000520002.1	-	2	742	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	CSMD1_ENST00000602723.1_Missense_Mutation_p.I63V|CSMD1_ENST00000400186.3_Missense_Mutation_p.I63V|CSMD1_ENST00000542608.1_Missense_Mutation_p.I63V|CSMD1_ENST00000602557.1_Missense_Mutation_p.I63V|CSMD1_ENST00000537824.1_Missense_Mutation_p.I63V|CSMD1_ENST00000539096.1_Missense_Mutation_p.I63V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	63	CUB 1. {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)		TCGCCCGTGATGATGATCCAG	0.483																																																	0								ENSG00000183117						123	123	123					8																	4494979		1948	4172	6120	CSMD1	SO:0001583	missense	0			-	HGNC			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.187A>G	8.37:g.4494979T>C	ENSP00000430733:p.Ile63Val	Somatic	0	39	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I63V	ENST00000520002.1	37	c.187		8	.	.	.	.	.	.	.	.	.	.	T	8.448	0.852377	0.17106	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.12	-1.99	0.07457	.	.	.	.	.	T	0.04588	0.0125	N	0.02736	-0.51	0.18873	N	0.999987	B	0.02656	0.0	B	0.04013	0.001	T	0.39623	-0.9605	9	0.02654	T	1	.	4.95	0.14009	0.0:0.2374:0.275:0.4876	.	63	E5RIG2	.	V	63	ENSP00000383047:I63V;ENSP00000430733:I63V;ENSP00000441462:I63V;ENSP00000446243:I63V;ENSP00000441675:I63V	ENSP00000383047:I63V	I	-	1	0	CSMD1	4482387	0.577000	0.26708	0.003000	0.11579	0.955000	0.61496	0.848000	0.27710	-0.622000	0.05626	0.477000	0.44152	ATC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	T	NM_033225	-		4494979	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.277	C	C	4494979	T	C	4494979	3	2	50	1	0	0	0	0	1	0	0	0	3946	1464	51	5	10596	5	CSMD1	8	4494979	Missense_Mutation	SNP	T	TCGA-DX-A3U9-01A-11D-A307-09		4494979	141869043	33	2863											
OC90	729330	genome.wustl.edu	37	chr8	133051332	133051332	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcactctatggcagccttatCacaggtacacagcaggtgct	10	12	2	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:133051332C>T	ENST00000443356.2	-	7	582	c.496G>A	c.(496-498)Gat>Aat	p.D166N	OC90_ENST00000603859.1_Missense_Mutation_p.D166N|OC90_ENST00000262283.5_Missense_Mutation_p.D362N|OC90_ENST00000254627.3_Missense_Mutation_p.D166N			Q02509	OC90_HUMAN	otoconin 90	166	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCAGCCTTATCACAGGTACAC	0.522																																																	0								ENSG00000258417						75	81	79					8																	133051332		2044	4211	6255	OC90	SO:0001583	missense	0			-	Uniprot_gn	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.496G>A	8.37:g.133051332C>T	ENSP00000390050:p.Asp166Asn	Somatic	0	42	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	B4DNG8	Missense_Mutation	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.D166N	ENST00000443356.2	37	c.496		8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188782	0.78789	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.48836	0.8;0.8;0.8	4.61	3.73	0.42828	Phospholipase A2 (3);	0.058598	0.64402	N	0.000004	T	0.62575	0.2439	M	0.89534	3.04	0.41209	D	0.986427	P;P	0.44877	0.814;0.845	P;P	0.48654	0.449;0.585	T	0.69007	-0.5259	10	0.52906	T	0.07	-18.5336	11.8596	0.52459	0.0:0.9147:0.0:0.0853	.	166;166	Q02509-2;Q02509	.;OC90_HUMAN	N	166;166;362	ENSP00000254627:D166N;ENSP00000390050:D166N;ENSP00000262283:D362N	ENSP00000254627:D166N	D	-	1	0	RP11-240B13.2;OC90	133120514	0.999000	0.42202	0.995000	0.50966	0.987000	0.75469	3.783000	0.55409	0.943000	0.37553	0.561000	0.74099	GAT	-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2		0.522	OC90-201	KNOWN	basic	protein_coding	OC90	protein_coding		C	NM_001080399	-		133051332	-1	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133051332	C	T	133051332	3	4	50	1	0	0	0	0	1	0	0	0	10816	826	29	2	969	2	OC90	8	133051332	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	128556353	133051332	13312690	34	2864											
CYP11B1	1584	genome.wustl.edu	37	chr8	143956671	143956671	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagctgggatgtggtagttCtgaagcaccaagtctgagct	13	9	2	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:143956671C>T	ENST00000292427.4	-	7	1211	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	CYP11B1_ENST00000377675.3_Silent_p.Q464Q|CYP11B1_ENST00000517471.1_Silent_p.Q393Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	393					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGTGGTAGTTCTGAAGCACCA	0.617									Familial Hyperaldosteronism type I																																								0								ENSG00000160882						72	66	68					8																	143956671		2203	4300	6503	CYP11B1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1179G>A	8.37:g.143956671C>T		Somatic	0	72	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	90	11.76	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.Q393	ENST00000292427.4	37	c.1179	CCDS6392.1	8																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B		0.617	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	C		-		143956671	-1	no_errors	ENST00000292427	ensembl	human	known	74_37	silent	SNP	1.000	T	T	143956671	C	T	143956671	2	4	50	1	0	0	0	0	0	0	0	1	4147	912	32	2		2	CYP11B1	8	143956671	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	10905339	143956671	2407351	35	2865											
MAPK15	225689	genome.wustl.edu	37	chr8	144803216	144803216	+	Frame_Shift_Del	DEL	C	C	-													cacgagaggcagatgtgcggCcccgggcacacgaaggggtc					rs5895783		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:144803216delC	ENST00000338033.4	+	10	1083	c.964delC	c.(964-966)cccfs	p.P322fs	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	322					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGATGTGCGGCCCCGGGCACA	0.682																																																	0								ENSG00000181085						19	25	23					8																	144803216		2004	4167	6171	MAPK15	SO:0001589	frameshift_variant	0				HGNC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.964delC	8.37:g.144803216delC	ENSP00000337691:p.Pro322fs	Somatic	0	15	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q2TCF9|Q8N362	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R323fs	ENST00000338033.4	37	c.964	CCDS6409.2	8																																																																																			-	superfamily_Kinase-like_dom		0.682	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	protein_coding	OTTHUMT00000300348.1	C	NM_139021			144803216	1	no_errors	ENST00000338033	ensembl	human	known	74_37	frame_shift_del	DEL	0.223	-	-	144803216	C	-	144803216	7	5	50	1	0	1	0	1	0	0	0	0	9279	739	26	0	1002	0	MAPK15	8	144803216	Frame_Shift_Del	DEL	C	TCGA-DX-A3U9-01A-11D-A307-09	846545	144803216	1560806	36	2866											
CAMSAP1	157922	genome.wustl.edu	37	chr9	138714789	138714789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccttggggagaccggGcatttgctgtaaggcctaag	15	9	0	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr9:138714789G>A	ENST00000389532.4	-	11	1782	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A295V|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A584V	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	573					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)		GGGAGACCGGGCATTTGCTGT	0.567																																																	0								ENSG00000130559						90	101	97					9																	138714789		2203	4300	6503	CAMSAP1	SO:0001583	missense	0			-	HGNC	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.1718C>T	9.37:g.138714789G>A	ENSP00000374183:p.Ala573Val	Somatic	0	43	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP							pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.A584V	ENST00000389532.4	37	c.1751	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348552	0.24426	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16897	2.35;2.31;2.35	5.2	4.29	0.51040	.	0.393440	0.27504	N	0.019061	T	0.16896	0.0406	L	0.43152	1.355	0.24380	N	0.994796	B;B	0.13594	0.002;0.008	B;B	0.13407	0.007;0.009	T	0.16394	-1.0404	10	0.87932	D	0	-8.4349	12.8343	0.57765	0.0803:0.0:0.9197:0.0	.	573;584	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	573;295;584	ENSP00000374183:A573V;ENSP00000312463:A295V;ENSP00000386420:A584V	ENSP00000312463:A295V	A	-	2	0	CAMSAP1	137854610	0.684000	0.27642	0.356000	0.25785	0.079000	0.17450	3.792000	0.55476	1.170000	0.42753	0.655000	0.94253	GCC	-	NULL		0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	protein_coding	OTTHUMT00000055024.2	G	XM_351857	-		138714789	-1	no_errors	ENST00000409386	ensembl	human	known	74_37	missense	SNP	0.479	A	A	138714789	G	A	138714789	3	1	50	1	0	0	0	0	1	0	0	0	2613	1203	42	2	3118	2	CAMSAP1	9	138714789	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		138714789	2498642	37	2867											
MYPN	84665	genome.wustl.edu	37	chr10	69881497	69881497	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaagctagaaaacgactttCtcctgatcagatgaaacact	6	10	3	4			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:69881497C>T	ENST00000358913.5	+	2	790	c.302C>T	c.(301-303)tCt>tTt	p.S101F	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.S101F|MYPN_ENST00000540630.1_Missense_Mutation_p.S101F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	101	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S101Y(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAACGACTTTCTCCTGATCAG	0.448																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000138347						50	49	50					10																	69881497		2203	4300	6503	MYPN	SO:0001583	missense	0			-	HGNC	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.302C>T	10.37:g.69881497C>T	ENSP00000351790:p.Ser101Phe	Somatic	0	57	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	14	58.82	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S101F	ENST00000358913.5	37	c.302	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976348	0.53720	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.63744	0.37;0.35;-0.06	5.76	5.76	0.90799	.	0.236333	0.44483	D	0.000445	T	0.73385	0.3580	L	0.56769	1.78	0.44188	D	0.997003	D;B	0.59767	0.986;0.294	P;B	0.57152	0.814;0.057	T	0.70757	-0.4785	9	.	.	.	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	101;101	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	F	101	ENSP00000351790:S101F;ENSP00000441668:S101F;ENSP00000362779:S101F	.	S	+	2	0	MYPN	69551503	0.949000	0.32298	1.000000	0.80357	0.956000	0.61745	1.687000	0.37680	2.713000	0.92767	0.655000	0.94253	TCT	-	NULL		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	protein_coding	OTTHUMT00000048307.1	C	NM_032578	-		69881497	1	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	SNP	0.998	T	T	69881497	C	T	69881497	3	4	50	1	0	0	0	0	1	0	0	0	10100	913	32	2	304	2	MYPN	10	69881497	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		69881497	65653250	38	2868											
KIAA1274	27143	genome.wustl.edu	37	chr10	72291112	72291113	+	Frame_Shift_Ins	INS	-	-	C													tgcagatgaggactttgtgtINScctacacacctcgagacaag							TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:72291112_72291113insC	ENST00000263563.6	+	5	803_804	c.535_536insC	c.(535-537)tccfs	p.S179fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	179						cytosol (GO:0005829)											GGACTTTGTGTCCTACACACCT	0.594																																																	0								ENSG00000107719																																			PALD1	SO:0001589	frameshift_variant	0				HGNC	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.537dupC	10.37:g.72291114_72291114dupC	ENSP00000263563:p.Ser179fs	Somatic	0	105	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	29	63.75	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS							smart_Tyr_Pase_cat	p.Y180fs	ENST00000263563.6	37	c.535_536	CCDS31215.1	10																																																																																			-	NULL		0.594	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	protein_coding	OTTHUMT00000048515.2	-	NM_014431			72291113	1	no_errors	ENST00000263563	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	C	C	72291113	-	C	72291112	7	5	50	1	0	1	1	0	0	0	0	0	8222	1667	58	0	549	0	KIAA1274	10	72291112	Frame_Shift_Ins	INS	-	TCGA-DX-A3U9-01A-11D-A307-09	2409615	72291112	63243635	39	2869											
HPSE2	60495	genome.wustl.edu	37	chr10	100481499	100481499	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaataaatccggatgggctGcaacaggctcttcagctgga	13	9	2	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:100481499G>A	ENST00000370552.3	-	5	930	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	HPSE2_ENST00000370546.1_Nonsense_Mutation_p.Q291*|HPSE2_ENST00000370549.1_Nonsense_Mutation_p.Q233*|HPSE2_ENST00000404542.1_Nonsense_Mutation_p.Q179*	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	291					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CGGATGGGCTGCAACAGGCTC	0.493																																																	0								ENSG00000172987						78	71	74					10																	100481499		2203	4300	6503	HPSE2	SO:0001587	stop_gained	0			-	HGNC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.871C>T	10.37:g.100481499G>A	ENSP00000359583:p.Gln291*	Somatic	0	65	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Nonsense_Mutation	SNP							pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.Q291*	ENST00000370552.3	37	c.871	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.745860	0.96882	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-1.2801	19.6357	0.95731	0.0:0.0:1.0:0.0	.	.	.	.	X	291;233;291;179	.	ENSP00000359577:Q291X	Q	-	1	0	HPSE2	100471489	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.872000	0.92352	2.706000	0.92434	0.551000	0.68910	CAG	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF		0.493	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	protein_coding	OTTHUMT00000049789.1	G	NM_021828	-		100481499	-1	no_errors	ENST00000370552	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	100481499	G	A	100481499	4	1	50	1	0	0	0	0	0	1	0	0	7347	1328	46	2	977	2	HPSE2	10	100481499	Nonsense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	28190387	100481499	35053248	40	2870											
AFAP1L2	84632	genome.wustl.edu	37	chr10	116062144	116062144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatacaggagaccctatcggCatccacatagtcgtaggtga	10	10	0	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:116062144C>A	ENST00000304129.4	-	12	1413	c.1384G>T	c.(1384-1386)Gcc>Tcc	p.A462S	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A462S|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A515S|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	462					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ACCCTATCGGCATCCACATAG	0.527																																																	0								ENSG00000169129						148	161	156					10																	116062144		2203	4300	6503	AFAP1L2	SO:0001583	missense	0			-	HGNC	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1384G>T	10.37:g.116062144C>A	ENSP00000303042:p.Ala462Ser	Somatic	0	27	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	6	66.67	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A515S	ENST00000304129.4	37	c.1543	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126070	0.77436	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.29397	1.57;1.57;1.57	5.67	5.67	0.87782	.	0.111674	0.64402	D	0.000011	T	0.53029	0.1771	M	0.62723	1.935	0.43714	D	0.996184	D;P;P;P;D;D	0.71674	0.965;0.865;0.941;0.863;0.998;0.997	P;P;P;P;P;P	0.61874	0.838;0.521;0.571;0.666;0.895;0.788	T	0.51140	-0.8743	10	0.59425	D	0.04	-25.651	19.773	0.96379	0.0:1.0:0.0:0.0	.	515;28;516;490;462;462	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	S	462;462;489;515	ENSP00000358276:A462S;ENSP00000303042:A462S;ENSP00000444511:A515S	ENSP00000303042:A462S	A	-	1	0	AFAP1L2	116052134	1.000000	0.71417	0.961000	0.40146	0.799000	0.45148	2.400000	0.44504	2.677000	0.91161	0.655000	0.94253	GCC	-	NULL		0.527	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	protein_coding	OTTHUMT00000050462.1	C	NM_032550	-		116062144	-1	no_errors	ENST00000545353	ensembl	human	known	74_37	missense	SNP	0.992	A	A	116062144	C	A	116062144	3	1	50	1	0	0	0	0	1	0	0	0	355	710	25	3	1104	3	AFAP1L2	10	116062144	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	15580645	116062144	19472603	41	2871											
OR1S2	219958	genome.wustl.edu	37	chr11	57971513	57971513	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccacagtgaccacataCatactcaggaaaagcacaaa	5	13	1	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:57971513C>G	ENST00000302592.6	-	1	140	c.141G>C	c.(139-141)atG>atC	p.M47I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGACCACATACATACTCAGGA	0.463																																																	0								ENSG00000197887						186	176	179					11																	57971513		2201	4296	6497	OR1S2	SO:0001583	missense	0			-	HGNC	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.141G>C	11.37:g.57971513C>G	ENSP00000305469:p.Met47Ile	Somatic	0	103	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	97	13.39	Q6IFG5|Q96R85	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M47I	ENST00000302592.6	37	c.141	CCDS31545.1	11	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776429	0.49786	.	.	ENSG00000197887	ENST00000302592	T	0.00421	7.46	4.25	4.25	0.50352	.	0.120652	0.38778	N	0.001567	T	0.00637	0.0021	L	0.33624	1.015	0.28941	N	0.890993	D	0.65815	0.995	D	0.75020	0.985	T	0.58498	-0.7626	10	0.62326	D	0.03	.	11.0541	0.47907	0.0:0.6971:0.3029:0.0	.	47	Q8NGQ3	OR1S2_HUMAN	I	47	ENSP00000305469:M47I	ENSP00000305469:M47I	M	-	3	0	OR1S2	57728089	0.002000	0.14202	1.000000	0.80357	0.729000	0.41735	-0.855000	0.04295	2.366000	0.80165	0.650000	0.86243	ATG	-	prints_GPCR_Rhodpsn		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	protein_coding	OTTHUMT00000394703.2	C	NM_001004459	-		57971513	-1	no_errors	ENST00000302592	ensembl	human	known	74_37	missense	SNP	0.997	G	G	57971513	C	G	57971513	3	3	50	1	0	0	0	0	1	0	0	0	10975	478	17	4	839	4	OR1S2	11	57971513	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		57971513	77035003	42	2872											
CTTN	2017	genome.wustl.edu	37	chr11	70277327	70277327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccaaaacgcaaacgcccCctgtgtcgcccgcacctcag	9	18	1	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:70277327C>A	ENST00000301843.8	+	15	1413	c.1207C>A	c.(1207-1209)Cct>Act	p.P403T	CTTN_ENST00000538675.1_Missense_Mutation_p.P87T|CTTN_ENST00000346329.3_Missense_Mutation_p.P366T|CTTN_ENST00000376561.3_Missense_Mutation_p.P366T	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	403					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCAAACGCCCCCTGTGTCGCC	0.552																																																	0								ENSG00000085733						120	130	127					11																	70277327		2200	4294	6494	CTTN	SO:0001583	missense	0			-	HGNC	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1207C>A	11.37:g.70277327C>A	ENSP00000301843:p.Pro403Thr	Somatic	0	42	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8N707|Q96H99	Missense_Mutation	SNP							pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.P403T	ENST00000301843.8	37	c.1207	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	C	5.094	0.202924	0.09704	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.35421	1.38;1.41;1.31;1.62;1.5	4.99	0.295	0.15752	Src homology-3 domain (1);	0.156567	0.41194	D	0.000932	T	0.20618	0.0496	L	0.29908	0.895	0.19300	N	0.999977	P;B;B;B	0.38551	0.636;0.002;0.0;0.03	B;B;B;B	0.34242	0.178;0.001;0.001;0.01	T	0.11227	-1.0596	10	0.48119	T	0.1	-1.4765	7.3314	0.26584	0.1223:0.6529:0.0:0.2248	.	87;366;403;366	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	T	366;403;366;87;60	ENSP00000317189:P366T;ENSP00000301843:P403T;ENSP00000365745:P366T;ENSP00000439762:P87T;ENSP00000431421:P60T	ENSP00000301843:P403T	P	+	1	0	CTTN	69954975	0.963000	0.33076	0.001000	0.08648	0.002000	0.02628	1.666000	0.37460	0.153000	0.19213	-0.267000	0.10333	CCT	-	superfamily_SH3_domain,prints_p67phox		0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	protein_coding	OTTHUMT00000259233.2	C	NM_138565	-		70277327	1	no_errors	ENST00000301843	ensembl	human	known	74_37	missense	SNP	0.007	A	A	70277327	C	A	70277327	3	1	50	1	0	0	0	0	1	0	0	0	4046	623	22	3	1257	3	CTTN	11	70277327	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	12305814	70277327	64729189	43	2873											
IL10RA	3587	genome.wustl.edu	37	chr11	117864124	117864124	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtgccgggaaacttcaCggtatggggttccccaaggc	14	11	1	0	rs564148493		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:117864124C>T	ENST00000227752.3	+	4	656	c.536C>T	c.(535-537)aCg>aTg	p.T179M	IL10RA_ENST00000545409.1_Splice_Site_p.T30M|IL10RA_ENST00000541785.1_Splice_Site_p.T159M|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	179					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGAAACTTCACGGTATGGGGT	0.567													C|||	1	0.000199681	0	0	5008	,	,		20063	0		0	False		,,,				2504	0.001																0								ENSG00000110324						61	57	59					11																	117864124		2200	4296	6496	IL10RA	SO:0001630	splice_region_variant	0			-	HGNC	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.537+1C>T	11.37:g.117864124C>T		Somatic	0	26	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	7	69.57	A8K6I0|B0YJ27	Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.T179M	ENST00000227752.3	37	c.536	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945095	0.53079	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.51071	0.72;0.72;0.72	5.84	-2.23	0.06930	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.348970	0.04352	N	0.355872	T	0.43010	0.1228	L	0.47716	1.5	0.24126	N	0.995786	P;D	0.67145	0.855;0.996	B;B	0.42495	0.119;0.389	T	0.53760	-0.8393	10	0.51188	T	0.08	-0.0138	11.4315	0.50043	0.7419:0.1875:0.0:0.0706	.	159;179	F5GYV8;Q13651	.;I10R1_HUMAN	M	179;159;30;159	ENSP00000227752:T179M;ENSP00000441397:T159M;ENSP00000443019:T30M	ENSP00000227752:T179M	T	+	2	0	IL10RA	117369334	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	-0.943000	0.03917	-0.357000	0.08175	-0.274000	0.10170	ACG	-	superfamily_Fibronectin_type3		0.567	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	protein_coding	OTTHUMT00000390167.1	C		-	Missense_Mutation	117864124	1	no_errors	ENST00000227752	ensembl	human	known	74_37	missense	SNP	0.006	T	T	117864124	C	T	117864124	5	4	50	1	0	0	0	0	0	0	1	0	7622	550	19	1	550	1	IL10RA	11	117864124	Splice_Site	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	47586797	117864124	17142392	44	2874											
OR4D5	219875	genome.wustl.edu	37	chr11	123810992	123810992	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgtacacagcactgctagtCatgctccgaagccactcacg	8	15	2	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:123810992C>T	ENST00000307033.2	+	1	743	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACTGCTAGTCATGCTCCGAA	0.517																																																	0								ENSG00000171014						233	212	219					11																	123810992		2202	4299	6501	OR4D5	SO:0001819	synonymous_variant	0			-	HGNC	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.669C>T	11.37:g.123810992C>T		Somatic	0	62	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	B9EGZ4|Q6IFE6	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V223	ENST00000307033.2	37	c.669	CCDS31699.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	protein_coding	OTTHUMT00000387263.1	C	NM_001001965	-		123810992	1	no_errors	ENST00000307033	ensembl	human	known	74_37	silent	SNP	0.280	T	T	123810992	C	T	123810992	2	4	50	1	0	0	0	0	0	0	0	1	11059	813	29	2		2	OR4D5	11	123810992	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	5946868	123810992	11195524	45	2875											
OR8A1	390275	genome.wustl.edu	37	chr11	124440623	124440623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gacagtcttcttttcggctgGattcaacatcatagtcacga	8	10	5	0	rs188075743		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:124440623G>C	ENST00000284287.3	+	1	731	c.659G>C	c.(658-660)gGa>gCa	p.G220A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	220					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)			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)		TTTTCGGCTGGATTCAACATC	0.483																																																	0								ENSG00000196119						120	115	117					11																	124440623		2201	4299	6500	OR8A1	SO:0001583	missense	0			-	HGNC	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.659G>C	11.37:g.124440623G>C	ENSP00000284287:p.Gly220Ala	Somatic	0	50	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	14	54.84	Q6IEW7|Q96RC6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G220A	ENST00000284287.3	37	c.659	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918691	0.33908	.	.	ENSG00000196119	ENST00000284287	T	0.36878	1.23	5.03	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000340	T	0.40297	0.1111	L	0.35542	1.07	0.09310	N	1	P	0.47545	0.897	P	0.61874	0.895	T	0.07927	-1.0747	10	0.32370	T	0.25	.	7.4881	0.27445	0.08:0.0:0.4175:0.5025	.	220	Q8NGG7	OR8A1_HUMAN	A	220	ENSP00000284287:G220A	ENSP00000284287:G220A	G	+	2	0	OR8A1	123945833	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	0.189000	0.17037	1.308000	0.44962	0.650000	0.86243	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	protein_coding	OTTHUMT00000387062.1	G	NM_001005194	-		124440623	1	no_errors	ENST00000284287	ensembl	human	known	74_37	missense	SNP	0.009	C	C	124440623	G	C	124440623	3	2	50	1	0	0	0	0	1	0	0	0	11227	1174	41	4	661	4	OR8A1	11	124440623	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	629631	124440623	10565893	46	2876											
PRDM10	56980	genome.wustl.edu	37	chr11	129785666	129785666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctctccaggaccagcGggtcggagcttccgaatgct	13	13	2	0	rs145915939		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:129785666G>A	ENST00000360871.3	-	16	2646	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	PRDM10_ENST00000423662.2_Silent_p.P723P|PRDM10_ENST00000304538.6_Silent_p.P719P|PRDM10_ENST00000526082.1_Silent_p.P723P|PRDM10_ENST00000358825.5_Silent_p.P809P|PRDM10_ENST00000528746.1_Silent_p.P779P	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	809					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGGACCAGCGGGTCGGAGCT	0.597																																																	0								ENSG00000170325	G	,,,	0,4402		0,0,2201	127	123	125		2427,2415,2169,2157	-4.3	0.9	11	dbSNP_134	125	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,,	809/1161,805/1157,723/1062,719/1024	129785666	1,12995	2201	4297	6498	PRDM10	SO:0001819	synonymous_variant	0			-	HGNC	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2415C>T	11.37:g.129785666G>A		Somatic	0	69	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	8	76.32	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P809	ENST00000360871.3	37	c.2427	CCDS8484.1	11																																																																																			-	NULL		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	protein_coding	OTTHUMT00000386076.1	G	NM_199437	rs145915939		129785666	-1	no_errors	ENST00000358825	ensembl	human	known	74_37	silent	SNP	0.479	A	A	129785666	G	A	129785666	2	1	50	1	0	0	0	0	0	0	0	1	12456	1103	39	1		1	PRDM10	11	129785666	Silent	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	5345043	129785666	5220850	47	2877											
PRB3	5544	genome.wustl.edu	37	chr12	11420653	11420653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctttcccggatgaggcGggggaccttgggactggttt	17	9	0	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:11420653G>A	ENST00000279573.7	-	3	665	c.530C>T	c.(529-531)cCg>cTg	p.P177L	PRB3_ENST00000381842.3_Missense_Mutation_p.P177L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P156L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	177	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CGGATGAGGCGGGGGACCTTG	0.642																																																	0								ENSG00000197870						130	164	153					12																	11420653		1854	4086	5940	PRB3	SO:0001583	missense	0			-	HGNC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.530C>T	12.37:g.11420653G>A	ENSP00000279573:p.Pro177Leu	Somatic	0	92	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	55	32.10	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP							NULL	p.P177L	ENST00000279573.7	37	c.530		12	.	.	.	.	.	.	.	.	.	.	.	4.080	0.012774	0.07912	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.18502	2.21;2.21	0.684	-1.37	0.09056	.	0.000000	0.35772	U	0.002998	T	0.06096	0.0158	.	.	.	0.09310	N	1	P	0.44478	0.836	B	0.27076	0.076	T	0.37502	-0.9703	9	0.37606	T	0.19	.	3.7165	0.08439	0.2006:0.2512:0.5482:0.0	.	177	Q04118	PRB3_HUMAN	L	177;156	ENSP00000371264:P177L;ENSP00000442626:P156L	ENSP00000279573:P177L	P	-	2	0	PRB3	11311920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.276000	0.08514	-0.831000	0.04256	-1.725000	0.00704	CCG	-	NULL		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	protein_coding	OTTHUMT00000402119.5	G	NM_006249	-		11420653	-1	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	SNP	0.000	A	A	11420653	G	A	11420653	3	1	50	1	0	0	0	0	1	0	0	0	12449	1116	39	1	407	1	PRB3	12	11420653	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		11420653	122431242	48	2878											
TPH2	121278	genome.wustl.edu	37	chr12	72425339	72425339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgtcccttctcagtatActtcaatccctacacacaga	3	16	2	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:72425339A>G	ENST00000333850.3	+	11	1478	c.1337A>G	c.(1336-1338)tAc>tGc	p.Y446C		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	446					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|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)	p.Y446F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTCTCAGTATACTTCAATCCC	0.418																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000139287						110	98	102					12																	72425339		2203	4299	6502	TPH2	SO:0001583	missense	0			-	HGNC	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1337A>G	12.37:g.72425339A>G	ENSP00000329093:p.Tyr446Cys	Somatic	0	79	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	52	29.33	A6NGA4|Q14CB0	Missense_Mutation	SNP							pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.Y446C	ENST00000333850.3	37	c.1337	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308950	0.60305	.	.	ENSG00000139287	ENST00000333850	D	0.99515	-6.06	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (4);	0.207187	0.43260	D	0.000591	D	0.98969	0.9649	L	0.34521	1.04	0.58432	D	0.999999	P	0.35226	0.491	P	0.52627	0.704	D	0.99864	1.1087	10	0.66056	D	0.02	-7.4104	16.2526	0.82494	1.0:0.0:0.0:0.0	.	446	Q8IWU9	TPH2_HUMAN	C	446	ENSP00000329093:Y446C	ENSP00000329093:Y446C	Y	+	2	0	TPH2	70711606	1.000000	0.71417	0.921000	0.36526	0.974000	0.67602	5.381000	0.66208	2.241000	0.73720	0.482000	0.46254	TAC	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	protein_coding	OTTHUMT00000405234.1	A	NM_173353	-		72425339	1	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72425339	A	G	72425339	3	3	50	1	0	0	0	0	1	0	0	0	16409	391	14	5	1379	5	TPH2	12	72425339	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	61004686	72425339	61426556	49	2879											
SPIC	121599	genome.wustl.edu	37	chr12	101880268	101880268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgccgagctttgggggAaaagaaaaggcaacaggaag	14	6	0	1	rs574189804		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:101880268A>G	ENST00000551346.1	+	6	625	c.466A>G	c.(466-468)Aaa>Gaa	p.K156E	SPIC_ENST00000299272.5_Missense_Mutation_p.K156E			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	156					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GCTTTGGGGGAAAAGAAAAGG	0.423													A|||	1	0.000199681	8e-04	0	5008	,	,		19073	0		0	False		,,,				2504	0																0								ENSG00000166211						57	58	58					12																	101880268		2203	4300	6503	SPIC	SO:0001583	missense	0			-	HGNC	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.466A>G	12.37:g.101880268A>G	ENSP00000448580:p.Lys156Glu	Somatic	0	42	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49		Missense_Mutation	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K156E	ENST00000551346.1	37	c.466	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	A	9.059	0.994081	0.19043	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.21191	2.02;2.02	4.69	0.604	0.17547	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.374301	0.32372	N	0.006199	T	0.07863	0.0197	N	0.12422	0.21	0.22127	N	0.999342	B	0.17465	0.022	B	0.17433	0.018	T	0.40384	-0.9566	10	0.02654	T	1	-2.7786	6.6927	0.23181	0.4693:0.4291:0.1016:0.0	.	156	Q8N5J4	SPIC_HUMAN	E	156	ENSP00000448580:K156E;ENSP00000299272:K156E	ENSP00000299272:K156E	K	+	1	0	SPIC	100404399	0.862000	0.29867	0.113000	0.21522	0.921000	0.55340	1.579000	0.36536	-0.077000	0.12752	-0.321000	0.08615	AAA	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom		0.423	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	protein_coding	OTTHUMT00000408260.1	A	NM_152323	-		101880268	1	no_errors	ENST00000299272	ensembl	human	known	74_37	missense	SNP	0.385	G	G	101880268	A	G	101880268	3	3	50	1	0	0	0	0	1	0	0	0	15058	247	9	5	478	5	SPIC	12	101880268	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	29454929	101880268	31971627	50	2880											
KCNK10	54207	genome.wustl.edu	37	chr14	88652381	88652381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgctccatgctgcggAtggtggccgcccgctgcagc	16	16	0	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr14:88652381A>G	ENST00000340700.5	-	7	1566	c.1115T>C	c.(1114-1116)aTc>aCc	p.I372T	KCNK10_ENST00000319231.5_Missense_Mutation_p.I377T|KCNK10_ENST00000312350.5_Missense_Mutation_p.I377T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	372					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CATGCTGCGGATGGTGGCCGC	0.667																																																	0								ENSG00000100433						26	27	27					14																	88652381		2193	4279	6472	KCNK10	SO:0001583	missense	0			-	HGNC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1115T>C	14.37:g.88652381A>G	ENSP00000343104:p.Ile372Thr	Somatic	0	49	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.I377T	ENST00000340700.5	37	c.1130	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744354	0.69418	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91792	-2.9;-2.9;-2.91	5.95	5.95	0.96441	.	0.108661	0.64402	D	0.000006	D	0.92273	0.7549	L	0.54323	1.7	0.51233	D	0.999913	B;P;P	0.35527	0.288;0.507;0.507	B;B;B	0.43838	0.433;0.433;0.433	D	0.92254	0.5811	10	0.62326	D	0.03	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	372;377;377	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	T	372;377;377	ENSP00000343104:I372T;ENSP00000310568:I377T;ENSP00000312811:I377T	ENSP00000310568:I377T	I	-	2	0	KCNK10	87722134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.315000	0.96313	2.279000	0.76181	0.533000	0.62120	ATC	-	prints_2pore_dom_K_chnl_TREK		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	protein_coding	OTTHUMT00000410167.1	A	NM_021161	-		88652381	-1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	SNP	1.000	G	G	88652381	A	G	88652381	3	3	50	1	0	0	0	0	1	0	0	0	8061	333	12	5	505	5	KCNK10	14	88652381	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09		88652381	18697159	51	2881											
TRPM7	54822	genome.wustl.edu	37	chr15	50920375	50920375	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtccataaacaaatacatGatttttggcaatgtcaactc	5	9	1	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:50920375G>T	ENST00000313478.7	-	11	1557	c.1276C>A	c.(1276-1278)Cat>Aat	p.H426N	TRPM7_ENST00000560955.1_Missense_Mutation_p.H426N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	426					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAAATACATGATTTTTGGCA	0.338																																																	0								ENSG00000092439						99	91	94					15																	50920375		1857	4091	5948	TRPM7	SO:0001583	missense	0			-	HGNC	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1276C>A	15.37:g.50920375G>T	ENSP00000320239:p.His426Asn	Somatic	0	39	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.H426N	ENST00000313478.7	37	c.1276	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867550	0.91587	.	.	ENSG00000092439	ENST00000313478	T	0.35048	1.33	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.65975	2.015	0.80722	D	1	D	0.59357	0.985	P	0.60886	0.88	T	0.58679	-0.7594	10	0.72032	D	0.01	-22.0066	19.5489	0.95310	0.0:0.0:1.0:0.0	.	426	Q96QT4	TRPM7_HUMAN	N	426	ENSP00000320239:H426N	ENSP00000320239:H426N	H	-	1	0	TRPM7	48707667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.850000	0.98022	0.655000	0.94253	CAT	-	NULL		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	protein_coding	OTTHUMT00000418604.1	G	NM_017672	-		50920375	-1	no_errors	ENST00000313478	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50920375	G	T	50920375	3	4	50	1	0	0	0	0	1	0	0	0	16598	1290	45	3	4437	3	TRPM7	15	50920375	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		50920375	51611017	52	2882											
HERC1	8925	genome.wustl.edu	37	chr15	63958195	63958199	+	Frame_Shift_Del	DEL	ATTTG	ATTTG	-													gactgcaaataacagggatcAtttgacttcccgccactgcc							TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	ATTTG	ATTTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:63958195_63958199delATTTG	ENST00000443617.2	-	42	8561_8565	c.8474_8478delCAAAT	c.(8473-8478)tcaaatfs	p.SN2825fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2825					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)			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						AACAGGGATCATTTGACTTCCCGCC	0.512																																																	0								ENSG00000103657																																			HERC1	SO:0001589	frameshift_variant	0				HGNC	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.8474_8478delCAAAT	15.37:g.63958195_63958199delATTTG	ENSP00000390158:p.Ser2825fs	Somatic					0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8IW65	Frame_Shift_Del	DEL							pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S2825fs	ENST00000443617.2	37	c.8478_8474	CCDS45277.1	15																																																																																			-	NULL		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	ATTTG	NM_003922			63958199	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	frame_shift_del	DEL	0.652:0.646:0.643:0.586:1.000	-	-	63958199	ATTTG	-	63958195	7	5	50	1	0	1	0	1	0	0	0	0	7059	214	8	0	6255	0	HERC1	15	63958195	Frame_Shift_Del	DEL	ATTTG	TCGA-DX-A3U9-01A-11D-A307-09	13037820	63958195	38573197	53	2883											
CYP1A2	1544	genome.wustl.edu	37	chr15	75042751	75042751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgtgaagaacactcaTgagttcgtggagactgcctc	11	11	1	4			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:75042751T>A	ENST00000343932.4	+	2	735	c.672T>A	c.(670-672)caT>caA	p.H224Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	224					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	AGAACACTCATGAGTTCGTGG	0.577																																																	0								ENSG00000140505						250	218	229					15																	75042751		2197	4296	6493	CYP1A2	SO:0001583	missense	0			-	HGNC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.672T>A	15.37:g.75042751T>A	ENSP00000342007:p.His224Gln	Somatic	0	41	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.H224Q	ENST00000343932.4	37	c.672	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	t	6.925	0.540409	0.13250	.	.	ENSG00000140505	ENST00000343932	T	0.66460	-0.21	4.98	-8.72	0.00845	.	0.882939	0.10181	N	0.705816	T	0.27697	0.0681	N	0.04245	-0.25	0.09310	N	0.999997	P	0.36712	0.566	B	0.24541	0.054	T	0.34030	-0.9845	10	0.66056	D	0.02	.	2.9746	0.05933	0.1726:0.3927:0.214:0.2207	.	224	P05177-2	.	Q	224	ENSP00000342007:H224Q	ENSP00000342007:H224Q	H	+	3	2	CYP1A2	72829804	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.382000	0.00126	-1.998000	0.00968	-0.361000	0.07541	CAT	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	T	NM_000761	-		75042751	1	no_errors	ENST00000343932	ensembl	human	known	74_37	missense	SNP	0.000	A	A	75042751	T	A	75042751	3	1	50	1	0	0	0	0	1	0	0	0	4152	1461	51	5	674	5	CYP1A2	15	75042751	Missense_Mutation	SNP	T	TCGA-DX-A3U9-01A-11D-A307-09	11084556	75042751	27488641	54	2884											
ULK3	25989	genome.wustl.edu	37	chr15	75130779	75130779	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccctcccactggcacaaAccttggccatggcagctgaa	9	16	0	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:75130779A>G	ENST00000440863.2	-	11	1259		c.e11+1		ULK3_ENST00000568667.1_Splice_Site|ULK3_ENST00000569437.1_Splice_Site	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						ACTGGCACAAACCTTGGCCAT	0.642																																																	0								ENSG00000140474						19	23	22					15																	75130779		2020	4152	6172	ULK3	SO:0001630	splice_region_variant	0			-	HGNC	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1167+1T>C	15.37:g.75130779A>G		Somatic	0	48	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	53	37.65	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Splice_Site	SNP							-	e11+2	ENST00000440863.2	37	c.1167+2	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054124	0.36277	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1273	0.59363	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK3	72917832	1.000000	0.71417	0.922000	0.36590	0.239000	0.25481	7.607000	0.82883	2.033000	0.60031	0.454000	0.30748	.	-	-		0.642	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	protein_coding	OTTHUMT00000421734.4	A	NM_015518	-	Intron	75130779	-1	no_errors	ENST00000440863	ensembl	human	known	74_37	splice_site	SNP	0.995	G	G	75130779	A	G	75130779	5	3	50	1	0	0	0	0	0	0	1	0	16984	57	2	5	273	5	ULK3	15	75130779	Splice_Site	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	88028	75130779	27400613	55	2885											
CACNA1H	8912	genome.wustl.edu	37	chr16	1265078	1265078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccgtcggttcttcaaggAcaggtgtgtgtggtggggcc	17	8	2	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr16:1265078A>G	ENST00000348261.5	+	28	5284	c.5036A>G	c.(5035-5037)gAc>gGc	p.D1679G	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1673G|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1673G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1679					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TTCTTCAAGGACAGGTGTGTG	0.617																																																	0								ENSG00000196557						148	141	143					16																	1265078		2003	4151	6154	CACNA1H	SO:0001583	missense	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5036A>G	16.37:g.1265078A>G	ENSP00000334198:p.Asp1679Gly	Somatic	0	79	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	85	27.35	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D1679G	ENST00000348261.5	37	c.5036	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114187	0.56505	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98862	-5.19;-5.19	4.04	4.04	0.47022	Ion transport (1);	0.063541	0.64402	D	0.000002	D	0.99020	0.9665	M	0.84585	2.705	0.58432	D	0.99999	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.992;0.992	D;D;D;D;D	0.78314	0.991;0.99;0.99;0.917;0.952	D	0.99441	1.0938	10	0.87932	D	0	.	12.5884	0.56430	1.0:0.0:0.0:0.0	.	425;414;420;1673;1679	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	G	1679;1673	ENSP00000334198:D1679G;ENSP00000351401:D1673G	ENSP00000334198:D1679G	D	+	2	0	CACNA1H	1205079	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.031000	0.76491	1.810000	0.52873	0.402000	0.26972	GAC	-	pfam_Ion_trans_dom		0.617	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	A	NM_001005407	-		1265078	1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	SNP	1.000	G	G	1265078	A	G	1265078	3	3	50	1	0	0	0	0	1	0	0	0	2547	275	10	5	5142	5	CACNA1H	16	1265078	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09		1265078	89089675	56	2886											
CLEC18B	497190	genome.wustl.edu	37	chr16	74446949	74446949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaccacagagcccccctGcatggtcccaggctttgaag	9	16	1	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr16:74446949G>T	ENST00000339953.5	-	5	783	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	221						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGCCCCCCTGCATGGTCCCA	0.607																																																	0								ENSG00000140839						35	40	38					16																	74446949		2196	4274	6470	CLEC18B	SO:0001583	missense	0			-	HGNC	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.662C>A	16.37:g.74446949G>T	ENSP00000341051:p.Ala221Glu	Somatic	0	122	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	76	14.61	B4DF90	Missense_Mutation	SNP							pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.A221E	ENST00000339953.5	37	c.662	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	g	9.877	1.200487	0.22121	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.22743	1.94	3.14	-0.771	0.11002	.	0.473962	0.22396	N	0.060601	T	0.08044	0.0201	N	0.19112	0.55	0.26034	N	0.981699	B;B;B	0.31680	0.335;0.002;0.004	B;B;B	0.30943	0.122;0.004;0.004	T	0.35450	-0.9788	10	0.02654	T	1	.	5.0197	0.14354	0.0:0.2074:0.3703:0.4222	.	141;221;221	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	E	221;221;221;141	ENSP00000341051:A221E	ENSP00000268492:A221E	A	-	2	0	CLEC18B	73004450	0.006000	0.16342	0.850000	0.33497	0.959000	0.62525	1.447000	0.35101	0.122000	0.18314	-0.723000	0.03601	GCA	-	NULL		0.607	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	protein_coding	OTTHUMT00000434697.1	G	NM_001011880	-		74446949	-1	no_errors	ENST00000339953	ensembl	human	known	74_37	missense	SNP	0.729	T	T	74446949	G	T	74446949	3	4	50	1	0	0	0	0	1	0	0	0	3505	1319	46	3	741	3	CLEC18B	16	74446949	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	73181871	74446949	15907804	57	2887											
KRT37	8688	genome.wustl.edu	37	chr17	39577807	39577807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccgtagcggtcctcCgcttcacacagggagttctg	12	13	3	0	rs138622207	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr17:39577807C>T	ENST00000225550.3	-	6	1052	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	351	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)				AGCGGTCCTCCGCTTCACACA	0.542																																																	0								ENSG00000108417	G		2,4404		0,2,2201	58	56	56		1053	-10.7	0	17	dbSNP_134	56	5,8595		0,5,4295	no	coding-synonymous	KRT37	NM_003770.4		0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538		351/450	39577807	7,12999	2203	4300	6503	KRT37	SO:0001819	synonymous_variant	0			-	HGNC	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.1053G>A	17.37:g.39577807C>T		Somatic	0	64	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	42.19		Silent	SNP							pfam_IF,prints_Keratin_I	p.A351	ENST00000225550.3	37	c.1053	CCDS32653.1	17																																																																																			-	pfam_IF		0.542	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	protein_coding	OTTHUMT00000257714.2	C	NM_003770	rs138622207		39577807	-1	no_errors	ENST00000225550	ensembl	human	known	74_37	silent	SNP	0.000	T	T	39577807	C	T	39577807	2	4	50	1	0	0	0	0	0	0	0	1	8476	639	23	1		1	KRT37	17	39577807	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		39577807	41617403	58	2888											
TUBD1	51174	genome.wustl.edu	37	chr17	57944036	57944036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaatggaagtgttaaaatGcaggtccttgttgagagaca	12	5	0	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr17:57944036G>T	ENST00000592426.1	-	6	1009	c.1009C>A	c.(1009-1011)Cat>Aat	p.H337N	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.H121N|TUBD1_ENST00000340993.6_Missense_Mutation_p.H282N|TUBD1_ENST00000325752.3_Missense_Mutation_p.H337N|TUBD1_ENST00000394239.3_Missense_Mutation_p.H337N|TUBD1_ENST00000346141.6_Missense_Mutation_p.H83N			Q9UJT1	TBD_HUMAN	tubulin, delta 1	337					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GTGTTAAAATGCAGGTCCTTG	0.378																																																	0								ENSG00000108423						109	99	102					17																	57944036		2203	4300	6503	TUBD1	SO:0001583	missense	0			-	HGNC	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1009C>A	17.37:g.57944036G>T	ENSP00000468518:p.His337Asn	Somatic	0	88	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.H337N	ENST00000592426.1	37	c.1009	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200179	0.38905	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000539018	T;T;T;T	0.79141	-1.07;-0.77;-1.24;-0.69	5.4	5.4	0.78164	Tubulin/FtsZ, C-terminal (1);	0.296830	0.41194	D	0.000925	T	0.70842	0.3270	L	0.31120	0.905	0.32868	D	0.508893	B;B;B;B;B	0.28880	0.0;0.2;0.145;0.226;0.001	B;B;B;B;B	0.29598	0.002;0.03;0.048;0.104;0.002	T	0.74278	-0.3717	10	0.44086	T	0.13	-5.9564	19.5343	0.95242	0.0:0.0:1.0:0.0	.	337;83;282;282;337	E9PCA7;Q9UJT1-3;Q5KU37;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	N	337;282;83;337;121	ENSP00000320797:H337N;ENSP00000342399:H282N;ENSP00000342561:H83N;ENSP00000377785:H337N	ENSP00000320797:H337N	H	-	1	0	TUBD1	55298818	1.000000	0.71417	0.387000	0.26183	0.664000	0.39144	5.366000	0.66122	2.684000	0.91462	0.650000	0.86243	CAT	-	superfamily_Tub_FtsZ_C		0.378	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	protein_coding	OTTHUMT00000448815.1	G	NM_016261	-		57944036	-1	no_errors	ENST00000325752	ensembl	human	known	74_37	missense	SNP	0.802	T	T	57944036	G	T	57944036	3	4	50	1	0	0	0	0	1	0	0	0	16769	1319	46	3	364	3	TUBD1	17	57944036	Missense_Mutation	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	18366229	57944036	23251174	59	2889											
COMP	1311	genome.wustl.edu	37	chr19	18895797	18895797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacatgaccacgtagaagCtggagctgtcctggtagcca	11	12	0	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:18895797C>T	ENST00000222271.2	-	16	1867	c.1823G>A	c.(1822-1824)aGc>aAc	p.S608N	COMP_ENST00000542601.2_Missense_Mutation_p.S575N|COMP_ENST00000425807.1_Missense_Mutation_p.S555N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	608	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACGTAGAAGCTGGAGCTGTC	0.577																																																	0								ENSG00000105664						191	150	164					19																	18895797		2203	4300	6503	COMP	SO:0001583	missense	0			-	HGNC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1823G>A	19.37:g.18895797C>T	ENSP00000222271:p.Ser608Asn	Somatic	0	88	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	59	49.15	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S608N	ENST00000222271.2	37	c.1823	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821896	0.90873	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.95205	-3.64;-3.64;-3.64	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.96131	0.8739	M	0.61703	1.905	0.80722	D	1	P;D	0.65815	0.902;0.995	P;D	0.67725	0.869;0.953	D	0.95971	0.8970	10	0.49607	T	0.09	-55.3166	15.2116	0.73227	0.0:1.0:0.0:0.0	.	555;608	B4DKJ3;P49747	.;COMP_HUMAN	N	575;608;555;595	ENSP00000439156:S575N;ENSP00000222271:S608N;ENSP00000403792:S555N	ENSP00000222271:S608N	S	-	2	0	COMP	18756797	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.514000	0.81750	2.169000	0.68431	0.484000	0.47621	AGC	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.577	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	protein_coding	OTTHUMT00000403457.1	C	NM_000095	-		18895797	-1	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18895797	C	T	18895797	3	4	50	1	0	0	0	0	1	0	0	0	3726	797	28	2	466	2	COMP	19	18895797	Missense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		18895797	40233186	60	2890											
CEACAM5	1048	genome.wustl.edu	37	chr19	42224051	42224051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgtcacaagaaatgaCgcaagagcctatgtatgtgg	10	7	2	3			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:42224051C>T	ENST00000221992.6	+	7	1809	c.1695C>T	c.(1693-1695)gaC>gaT	p.D565D	CEACAM5_ENST00000398599.4_Silent_p.D564D|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.D565D	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	565	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517																																																	0								ENSG00000105388						202	183	189					19																	42224051		2203	4300	6503	CEACAM5	SO:0001819	synonymous_variant	0			-	HGNC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1695C>T	19.37:g.42224051C>T		Somatic	0	144	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	88	57.49	H9KVA7	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D565	ENST00000221992.6	37	c.1695	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	1.416	-0.574235	0.03882	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.54	-2.53	0.06326	.	.	.	.	.	T	0.28267	0.0698	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31586	-0.9938	4	.	.	.	.	6.6999	0.23219	0.0:0.3274:0.0:0.6726	.	.	.	.	C	561	.	.	R	+	1	0	CEACAM5	46915891	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.781000	0.01774	-0.549000	0.06191	0.404000	0.27445	CGC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	protein_coding	OTTHUMT00000321132.2	C	NM_004363	-		42224051	1	no_errors	ENST00000221992	ensembl	human	known	74_37	silent	SNP	0.000	T	T	42224051	C	T	42224051	2	4	50	1	0	0	0	0	0	0	0	1	3197	535	19	1		1	CEACAM5	19	42224051	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	23328254	42224051	16904932	61	2891											
ZNF180	7733	genome.wustl.edu	37	chr19	44981660	44981660	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtttctcttcagaattAtttctcatgttttgagtaag	7	5	3	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:44981660A>C	ENST00000221327.4	-	5	1319	c.1038T>G	c.(1036-1038)aaT>aaG	p.N346K	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.N319K|ZNF180_ENST00000391956.4_Missense_Mutation_p.N321K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	346					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)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTCAGAATTATTTCTCATGT	0.383																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0								ENSG00000167384						72	75	74					19																	44981660		2203	4300	6503	ZNF180	SO:0001583	missense	0			-	HGNC	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1038T>G	19.37:g.44981660A>C	ENSP00000221327:p.Asn346Lys	Somatic	0	44	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N346K	ENST00000221327.4	37	c.1038	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467974	0.43839	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00737	5.76;5.76	5.01	1.79	0.24919	.	0.492323	0.17176	N	0.184078	T	0.00440	0.0014	N	0.02412	-0.56	0.28809	N	0.898344	P;P;P	0.38677	0.589;0.642;0.642	B;B;B	0.34991	0.122;0.193;0.193	T	0.51252	-0.8729	10	0.66056	D	0.02	-14.4897	6.9385	0.24481	0.7032:0.0:0.2968:0.0	.	321;345;346	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	K	346;321	ENSP00000221327:N346K;ENSP00000375818:N321K	ENSP00000221327:N346K	N	-	3	2	ZNF180	49673500	0.000000	0.05858	0.909000	0.35828	0.943000	0.58893	0.031000	0.13710	0.262000	0.21774	0.533000	0.62120	AAT	-	NULL		0.383	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	protein_coding	OTTHUMT00000451601.1	A	NM_013256	-		44981660	-1	no_errors	ENST00000221327	ensembl	human	known	74_37	missense	SNP	0.534	C	C	44981660	A	C	44981660	3	2	50	1	0	0	0	0	1	0	0	0	17755	446	16	5	1044	5	ZNF180	19	44981660	Missense_Mutation	SNP	A	TCGA-DX-A3U9-01A-11D-A307-09	2757609	44981660	14147323	62	2892											
TTYH1	57348	genome.wustl.edu	37	chr19	54940506	54940506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacagtcatgagtctcctGgttctcgtcctgagctgggg	13	10	3	3			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:54940506G>A	ENST00000376530.3	+	6	859	c.756G>A	c.(754-756)ctG>ctA	p.L252L	TTYH1_ENST00000391739.3_Silent_p.L301L|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000376531.3_Silent_p.L252L|TTYH1_ENST00000301194.4_Silent_p.L252L|TTYH1_ENST00000489425.1_3'UTR	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	252					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGAGTCTCCTGGTTCTCGTCC	0.632																																																	0								ENSG00000167614						63	64	64					19																	54940506		2203	4300	6503	TTYH1	SO:0001819	synonymous_variant	0			-	HGNC	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.756G>A	19.37:g.54940506G>A		Somatic	1	113	0.88		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	85	39.44	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP							pfam_Tweety	p.L252	ENST00000376530.3	37	c.756	CCDS12893.1	19																																																																																			-	pfam_Tweety		0.632	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	protein_coding	OTTHUMT00000140498.1	G		-		54940506	1	no_errors	ENST00000376531	ensembl	human	known	74_37	silent	SNP	1.000	A	A	54940506	G	A	54940506	2	1	50	1	0	0	0	0	0	0	0	1	16746	1335	47	2		2	TTYH1	19	54940506	Silent	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09	9958846	54940506	4188477	63	2893											
ZCCHC3	85364	genome.wustl.edu	37	chr20	279424	279424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggcagctcagctaacCggcgtggccgggcactaaac	13	14	1	0			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr20:279424C>T	ENST00000382352.3	+	1	1688	c.1197C>T	c.(1195-1197)acC>acT	p.T399T		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	399							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTCAGCTAACCGGCGTGGCCG	0.542																																																	0								ENSG00000177764						22	24	23					20																	279424		2011	4179	6190	ZCCHC3	SO:0001819	synonymous_variant	0			-	HGNC	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.1197C>T	20.37:g.279424C>T		Somatic	0	27	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	Q3B7J3|Q6NT79	Silent	SNP							pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.T399	ENST00000382352.3	37	c.1197	CCDS42844.1	20																																																																																			-	NULL		0.542	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC3	protein_coding	OTTHUMT00000077447.1	C		-		279424	1	no_errors	ENST00000382352	ensembl	human	known	74_37	silent	SNP	0.926	T	T	279424	C	T	279424	2	4	50	1	0	0	0	0	0	0	0	1	17596	639	23	1		1	ZCCHC3	20	279424	Silent	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09		279424	62746096	64	2894											
ACSS2	55902	genome.wustl.edu	37	chr20	33501958	33501958	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggctgacgaggccctgCagaagtgtcaggagaagtaa	15	8	1	3	rs140958101	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr20:33501958C>T	ENST00000360596.2	+	6	914	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	ACSS2_ENST00000253382.5_Nonsense_Mutation_p.Q235*|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Nonsense_Mutation_p.Q185*	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	235					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGAGGCCCTGCAGAAGTGTCA	0.532																																																	0								ENSG00000131069						97	102	100					20																	33501958		2203	4300	6503	ACSS2	SO:0001587	stop_gained	0			-	HGNC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.703C>T	20.37:g.33501958C>T	ENSP00000353804:p.Gln235*	Somatic	0	42	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Nonsense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.Q235*	ENST00000360596.2	37	c.703	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352825	0.82132	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000253382	.	.	.	5.24	3.21	0.36854	.	0.270397	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9308	8.76	0.34669	0.0906:0.4608:0.4487:0.0	.	.	.	.	X	185;235;235;235	.	ENSP00000253382:Q235X	Q	+	1	0	ACSS2	32965619	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.128000	0.42045	1.441000	0.47550	-0.165000	0.13383	CAG	-	pfam_AMP-dep_Synth/Lig		0.532	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	protein_coding	OTTHUMT00000078823.3	C	NM_018677	-		33501958	1	no_errors	ENST00000253382	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	33501958	C	T	33501958	4	4	50	1	0	0	0	0	0	1	0	0	189	711	25	2	725	2	ACSS2	20	33501958	Nonsense_Mutation	SNP	C	TCGA-DX-A3U9-01A-11D-A307-09	33222534	33501958	29523562	65	2895											
ITGB2	3689	genome.wustl.edu	37	chr21	46311876	46311876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacgactgctcctggatGcactctgtggccgtgacctt	10	13	1	1			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr21:46311876G>A	ENST00000397850.2	-	12	1712	c.1260C>T	c.(1258-1260)tgC>tgT	p.C420C	ITGB2_ENST00000397857.1_Silent_p.C420C|ITGB2_ENST00000302347.5_Silent_p.C420C|ITGB2_ENST00000355153.4_Silent_p.C420C|ITGB2_ENST00000397852.1_Silent_p.C420C|ITGB2_ENST00000397854.3_Silent_p.C363C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	420					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTCCTGGATGCACTCTGTGG	0.647																																																	0								ENSG00000160255						88	67	74					21																	46311876		2200	4300	6500	ITGB2	SO:0001819	synonymous_variant	0			-	HGNC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1260C>T	21.37:g.46311876G>A		Somatic	0	36	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.C420	ENST00000397850.2	37	c.1260	CCDS13716.1	21																																																																																			-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	protein_coding	OTTHUMT00000206566.2	G	NM_000211	-		46311876	-1	no_errors	ENST00000302347	ensembl	human	known	74_37	silent	SNP	0.930	A	A	46311876	G	A	46311876	2	1	50	1	0	0	0	0	0	0	0	1	7896	1311	46	2		2	ITGB2	21	46311876	Silent	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		46311876	1818019	66	2896											
SLC7A4	6545	genome.wustl.edu	37	chr22	21385529	21385529	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtgattgagccaggaGgacacgcgggctccacagga	16	9	0	2			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr22:21385529G>C	ENST00000382932.2	-	2	640	c.573C>G	c.(571-573)tcC>tcG	p.S191S	SLC7A4_ENST00000403586.1_Silent_p.S191S|MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	191				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGCCAGGAGGACACGCGGG	0.607																																																	0								ENSG00000099960						61	58	59					22																	21385529		2203	4300	6503	SLC7A4	SO:0001819	synonymous_variant	0			-	HGNC	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.573C>G	22.37:g.21385529G>C		Somatic	0	34	0		0.670110304424884				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	5	88.64	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.S191	ENST00000382932.2	37	c.573	CCDS33608.1	22																																																																																			-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.607	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	protein_coding	OTTHUMT00000320467.1	G	NM_004173	-		21385529	-1	no_errors	ENST00000382932	ensembl	human	known	74_37	silent	SNP	0.957	C	C	21385529	G	C	21385529	2	2	50	1	0	0	0	0	0	0	0	1	14707	987	35	4		4	SLC7A4	22	21385529	Silent	SNP	G	TCGA-DX-A3U9-01A-11D-A307-09		21385529	29919037	67	2897											
JAK1	3716	genome.wustl.edu	37	chr1	65305469	65305469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagagctcaaccttccCaaagtggccctggagggaaa	11	13	1	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr1:65305469C>A	ENST00000342505.4	-	20	2907	c.2659G>T	c.(2659-2661)Ggg>Tgg	p.G887W	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	887	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCAACCTTCCCAAAGTGGCCC	0.552			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0								ENSG00000162434						59	56	57					1																	65305469		1932	4145	6077	JAK1	SO:0001583	missense	0			-	HGNC	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2659G>T	1.37:g.65305469C>A	ENSP00000343204:p.Gly887Trp	Somatic	0	33	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	7	69.57	Q59GQ2|Q9UD26	Missense_Mutation	SNP							pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.G887W	ENST00000342505.4	37	c.2659	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553702	0.86231	.	.	ENSG00000162434	ENST00000342505	D	0.95137	-3.62	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98469	0.9490	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99771	1.1024	9	0.87932	D	0	-6.7415	18.2322	0.89937	0.0:1.0:0.0:0.0	.	887	P23458	JAK1_HUMAN	W	887	ENSP00000343204:G887W	ENSP00000343204:G887W	G	-	1	0	JAK1	65078057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.273000	0.78527	2.527000	0.85204	0.563000	0.77884	GGG	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	protein_coding	OTTHUMT00000025791.1	C	NM_002227	-		65305469	-1	no_errors	ENST00000342505	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65305469	C	A	65305469	3	1	51	1	0	0	0	0	1	0	0	0	7939	594	21	3	829	3	JAK1	1	65305469	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		65305469	183945152	1	2898											
PKN2	5586	genome.wustl.edu	37	chr1	89206944	89206944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaattaaatgcacatattGttgtatcagatccagaagat	8	5	1	3			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr1:89206944G>T	ENST00000370521.3	+	2	681	c.322G>T	c.(322-324)Gtt>Ttt	p.V108F	PKN2_ENST00000370513.5_Missense_Mutation_p.V108F|PKN2_ENST00000316005.7_Missense_Mutation_p.V108F|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	108					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGCACATATTGTTGTATCAGA	0.249																																																	0								ENSG00000065243						44	42	42					1																	89206944		1806	4069	5875	PKN2	SO:0001583	missense	0			-	HGNC	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.322G>T	1.37:g.89206944G>T	ENSP00000359552:p.Val108Phe	Somatic	0	37	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.V108F	ENST00000370521.3	37	c.322	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693117	0.88735	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370513	T;T;T	0.18338	2.22;2.22;2.22	5.58	5.58	0.84498	.	0.000000	0.40469	U	0.001086	T	0.35885	0.0947	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;1.0;1.0	D;D;D;D	0.91635	0.995;0.989;0.999;0.989	T	0.09907	-1.0653	10	0.72032	D	0.01	.	19.5748	0.95438	0.0:0.0:1.0:0.0	.	108;108;108;108	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	F	108	ENSP00000359552:V108F;ENSP00000317851:V108F;ENSP00000359544:V108F	ENSP00000317851:V108F	V	+	1	0	PKN2	88979532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.622000	0.88805	0.557000	0.71058	GTT	-	pfam_HR1_rho-bd,smart_HR1_rho-bd		0.249	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	protein_coding	OTTHUMT00000027828.3	G	NM_006256	-		89206944	1	no_errors	ENST00000370521	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89206944	G	T	89206944	3	4	51	1	0	0	0	0	1	0	0	0	11982	1377	48	3	328	3	PKN2	1	89206944	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	23901475	89206944	160043677	2	2899											
LGTN	1939	genome.wustl.edu	37	chr1	206778849	206778849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatggctgcaactccaatgGctacaggggctctaagaaga	11	10	1	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr1:206778849G>T	ENST00000271764.2	-	5	642	c.434C>A	c.(433-435)gCc>gAc	p.A145D	EIF2D_ENST00000367114.3_Missense_Mutation_p.A145D	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	145	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				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)			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						AACTCCAATGGCTACAGGGGC	0.517																																																	0								ENSG00000143486						73	58	63					1																	206778849		2203	4300	6503	EIF2D	SO:0001583	missense	0			-	HGNC	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.434C>A	1.37:g.206778849G>T	ENSP00000271764:p.Ala145Asp	Somatic	0	25	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP							pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.A145D	ENST00000271764.2	37	c.434	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770155	0.69992	.	.	ENSG00000143486	ENST00000367114;ENST00000271764;ENST00000367111;ENST00000437518	T;T;T	0.47869	0.83;0.83;0.83	5.65	5.65	0.86999	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.045197	0.85682	D	0.000000	T	0.78342	0.4268	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.983	D	0.83573	0.0113	10	0.87932	D	0	-14.7038	18.4694	0.90767	0.0:0.0:1.0:0.0	.	145;145	P41214-2;P41214	.;EIF2D_HUMAN	D	145;145;117;117	ENSP00000356081:A145D;ENSP00000271764:A145D;ENSP00000394685:A117D	ENSP00000271764:A145D	A	-	2	0	EIF2D	204845472	1.000000	0.71417	0.342000	0.25602	0.469000	0.32828	6.068000	0.71201	2.941000	0.99782	0.655000	0.94253	GCC	-	superfamily_PUA-like_domain,smart_PUA,pfscan_PUA		0.517	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	protein_coding	OTTHUMT00000088475.1	G	NM_006893	-		206778849	-1	no_errors	ENST00000271764	ensembl	human	known	74_37	missense	SNP	0.999	T	T	206778849	G	T	206778849	3	4	51	1	0	0	0	0	1	0	0	0	8762	1203	42	3	1364	3	LGTN	1	206778849	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	117571905	206778849	42471772	3	2900											
EVX2	344191	genome.wustl.edu	37	chr2	176945342	176945368	+	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-													gaagtagcgaagggcgacgaAgccgcggccgccgcgcctga							TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENST00000308618.4	-	3	1034_1060	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	c.(898-924)gcagcctcaggcgcggcggccgcggctdel	p.AASGAAAAA300del		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	300	Poly-Ala.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGGGCGACGAAgccgcggccgccgcgcctgaggctgcagccgcggcc	0.731																																																	0								ENSG00000174279																																			EVX2	SO:0001651	inframe_deletion	0				HGNC		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	2.37:g.176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENSP00000312385:p.Ala300_Ala308del	Somatic					0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1					In_Frame_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa	p.AASGAAAAA300in_frame_del	ENST00000308618.4	37	c.924_898	CCDS33333.1	2																																																																																			-	NULL		0.731	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	protein_coding	OTTHUMT00000359252.1	AGCCGCGGCCGCCGCGCCTGAGGCTGC				176945368	-1	no_errors	ENST00000308618	ensembl	human	known	74_37	in_frame_del	DEL	0.106:0.803:0.815:0.426:0.829:0.835:0.247:0.369:0.386:0.333:0.342:0.346:0.005:0.096:0.112:0.036:0.927:0.933:0.157:0.969:0.991:0.996:1.000:1.000:0.993:1.000:0.999	-	-	176945368	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-	176945342	7	5	51	1	0	1	0	1	0	0	0	0	5297	59	3	0	508	0	EVX2	2	176945342	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	TCGA-DX-A3UA-01A-12D-A307-09		176945342	66254031	4	2901											
FSIP2	401024	genome.wustl.edu	37	chr2	186671383	186671383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaacctggaatttttcccGctaagtttttagaagatgtt	8	6	0	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr2:186671383G>A	ENST00000424728.1	+	17	17350	c.17350G>A	c.(17350-17352)Gct>Act	p.A5784T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A5873T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5784										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTTTTCCCGCTAAGTTTTT	0.333																																																	0								ENSG00000188738						72	68	69					2																	186671383		1804	4072	5876	FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17350G>A	2.37:g.186671383G>A	ENSP00000401306:p.Ala5784Thr	Somatic	0	74	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	50	30.56	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.A5873T	ENST00000424728.1	37	c.17617		2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748834	0.30955	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.62364	0.03;0.04	5.06	2.27	0.28462	.	.	.	.	.	T	0.50667	0.1629	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.44817	-0.9303	7	0.51188	T	0.08	.	4.4373	0.11557	0.1844:0.0:0.6388:0.1768	.	.	.	.	T	5873;5784	ENSP00000344403:A5873T;ENSP00000401306:A5784T	ENSP00000344403:A5873T	A	+	1	0	FSIP2	186379628	0.151000	0.22747	0.096000	0.21009	0.298000	0.27526	0.723000	0.25939	0.299000	0.22661	-0.194000	0.12790	GCT	-	NULL		0.333	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186671383	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.143	A	A	186671383	G	A	186671383	3	1	51	1	0	0	0	0	1	0	0	0	6077	1087	38	1	17683	1	FSIP2	2	186671383	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	9726041	186671383	56527990	5	2902											
PLD1	5337	genome.wustl.edu	37	chr3	171320971	171320971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaattgcaccaaaaatccaCggatcttcttcagttcctcc	6	13	3	0			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr3:171320971C>T	ENST00000351298.4	-	27	3248	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	PLD1_ENST00000356327.5_Missense_Mutation_p.R1003H|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1041					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAAAAATCCACGGATCTTCTT	0.438																																					NSCLC(149;2174 3517 34058)												0								ENSG00000075651						119	115	116					3																	171320971		2203	4300	6503	PLD1	SO:0001583	missense	0			-	HGNC	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.3122G>A	3.37:g.171320971C>T	ENSP00000342793:p.Arg1041His	Somatic	0	70	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.R1041H	ENST00000351298.4	37	c.3122	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571245	0.65765	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.07444	3.2;3.19	6.07	6.07	0.98685	.	0.106957	0.64402	D	0.000007	T	0.13329	0.0323	M	0.74389	2.26	0.80722	D	1	B;B	0.28291	0.206;0.109	B;B	0.22753	0.041;0.02	T	0.00651	-1.1626	10	0.62326	D	0.03	-13.3744	13.793	0.63152	0.0:0.9304:0.0:0.0696	.	1026;1041	Q59EA4;Q13393	.;PLD1_HUMAN	H	1003;1041	ENSP00000348681:R1003H;ENSP00000342793:R1041H	ENSP00000342793:R1041H	R	-	2	0	PLD1	172803665	0.996000	0.38824	1.000000	0.80357	0.958000	0.62258	3.240000	0.51368	2.890000	0.99128	0.650000	0.86243	CGT	-	pirsf_PLipase_D_euk		0.438	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	protein_coding	OTTHUMT00000346730.2	C	NM_002662	-		171320971	-1	no_errors	ENST00000351298	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171320971	C	T	171320971	3	4	51	1	0	0	0	0	1	0	0	0	12047	536	19	1	106	1	PLD1	3	171320971	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		171320971	26701459	6	2903											
CLOCK	9575	genome.wustl.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																																	0								ENSG00000134852																																			CLOCK	SO:0001651	inframe_deletion	0				HGNC	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del	Somatic	0	27	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL							pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat	p.Q760in_frame_del	ENST00000309964.4	37	c.2280_2278	CCDS3500.1	4																																																																																			-	NULL		0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLOCK	protein_coding	OTTHUMT00000361993.2	CTG	NM_004898			56304532	-1	no_errors	ENST00000309964	ensembl	human	known	74_37	in_frame_del	DEL	0.944:0.945:1.000	-	-	56304532	CTG	-	56304530	7	5	51	1	0	1	0	1	0	0	0	0	3551	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-DX-A3UA-01A-12D-A307-09		56304530	134849746	7	2904											
ANKRD17	26057	genome.wustl.edu	37	chr4	73941998	73941998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgaggtgcccagggtcCagtccacacctatgaatata	10	11	0	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:73941998C>T	ENST00000358602.4	-	34	7878	c.7762G>A	c.(7762-7764)Gga>Aga	p.G2588R	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2337R|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2475R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2588					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCAGGGTCCAGTCCACACC	0.368																																																	0								ENSG00000132466						69	62	65					4																	73941998		2203	4300	6503	ANKRD17	SO:0001583	missense	0			-	HGNC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7762G>A	4.37:g.73941998C>T	ENSP00000351416:p.Gly2588Arg	Somatic	0	36	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.G2588R	ENST00000358602.4	37	c.7762	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880908	0.72294	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	D;D;D	0.86769	-2.17;-2.15;-2.07	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000016	D	0.92021	0.7472	L	0.52573	1.65	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.92667	0.6146	10	0.87932	D	0	.	19.0464	0.93020	0.0:1.0:0.0:0.0	.	2587;2337;2588;2475	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	R	2588;1995;2337;2475	ENSP00000351416:G2588R;ENSP00000332265:G2337R;ENSP00000427151:G2475R	ENSP00000332265:G2337R	G	-	1	0	ANKRD17	74160862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.294000	0.78760	2.514000	0.84764	0.655000	0.94253	GGA	-	NULL		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	C	NM_032217	-		73941998	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73941998	C	T	73941998	3	4	51	1	0	0	0	0	1	0	0	0	646	603	21	2	53	2	ANKRD17	4	73941998	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	17637468	73941998	117212278	8	2905											
TET2	54790	genome.wustl.edu	37	chr4	106196793	106196793	+	Missense_Mutation	SNP	G	G	A													gggagatggtttcagcagttGtaccattagaccaaatgtac							TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:106196793G>A	ENST00000540549.1	+	11	5986	c.5126G>A	c.(5125-5127)tGt>tAt	p.C1709Y	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.C1709Y|TET2_ENST00000513237.1_Missense_Mutation_p.C1730Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1709					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)		TTCAGCAGTTGTACCATTAGA	0.428			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0								ENSG00000168769						140	115	122					4																	106196793		692	1591	2283	TET2	SO:0001583	missense	0			-	HGNC	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.5126G>A	4.37:g.106196793G>A	ENSP00000442788:p.Cys1709Tyr	Somatic	0	35	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	25	41.86	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP							NULL	p.C1709Y	ENST00000540549.1	37	c.5126	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	6.243	0.412933	0.11812	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.02787	4.17;4.16;4.17	5.16	3.38	0.38709	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.05960	0.0155	M	0.67953	2.075	0.80722	D	1	B;B	0.21688	0.059;0.059	B;B	0.26094	0.066;0.066	T	0.15983	-1.0418	9	0.40728	T	0.16	-5.1426	15.7582	0.78054	0.0:0.2314:0.7686:0.0	.	1730;1709	E7EQS8;Q6N021	.;TET2_HUMAN	Y	1709;1730;1709	ENSP00000442788:C1709Y;ENSP00000425443:C1730Y;ENSP00000369351:C1709Y	ENSP00000369351:C1709Y	C	+	2	0	TET2	106416242	1.000000	0.71417	0.009000	0.14445	0.274000	0.26718	5.729000	0.68538	0.515000	0.28320	0.467000	0.42956	TGT	-	NULL		0.428	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	G	NM_017628	-		106196793	1	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106196793	G	A	106196793	3	1	51	1	0	0	0	0	1	0	0	0	15777	1377	48	2	5249	2	TET2	4	106196793	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	32254795	106196793	84957483	9	2906	43	2									
TET2	54790	genome.wustl.edu	37	chr4	106196802	106196802	+	Missense_Mutation	SNP	G	G	A													tttcagcagttgtaccattaGaccaaatgtacatcatgtag							TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:106196802G>A	ENST00000540549.1	+	11	5995	c.5135G>A	c.(5134-5136)aGa>aAa	p.R1712K	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.R1712K|TET2_ENST00000513237.1_Missense_Mutation_p.R1733K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1712					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)		TGTACCATTAGACCAAATGTA	0.433			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0								ENSG00000168769						127	105	112					4																	106196802		692	1591	2283	TET2	SO:0001583	missense	0			-	HGNC	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.5135G>A	4.37:g.106196802G>A	ENSP00000442788:p.Arg1712Lys	Somatic	0	35	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP							NULL	p.R1712K	ENST00000540549.1	37	c.5135	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	6.914	0.538352	0.13250	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.02709	4.2;4.19;4.2	5.16	2.47	0.30058	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.01592	0.0051	N	0.11201	0.11	0.80722	D	1	B;B	0.13594	0.003;0.008	B;B	0.16289	0.015;0.011	T	0.50224	-0.8853	9	0.09084	T	0.74	-7.0319	8.3984	0.32570	0.2474:0.0:0.7526:0.0	.	1733;1712	E7EQS8;Q6N021	.;TET2_HUMAN	K	1712;1733;1712	ENSP00000442788:R1712K;ENSP00000425443:R1733K;ENSP00000369351:R1712K	ENSP00000369351:R1712K	R	+	2	0	TET2	106416251	1.000000	0.71417	0.001000	0.08648	0.328000	0.28507	3.873000	0.56093	0.185000	0.20105	0.467000	0.42956	AGA	-	NULL		0.433	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	G	NM_017628	-		106196802	1	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	SNP	0.993	A	A	106196802	G	A	106196802	3	1	51	1	0	0	0	0	1	0	0	0	15777	942	33	2	5258	2	TET2	4	106196802	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	9	106196802	84957474	10	2907	43	2									
TET2	54790	genome.wustl.edu	37	chr4	106197126	106197126	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcttacacaaattaaGtgatgctaatggtcaggaaa	11	5	1	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:106197126G>C	ENST00000540549.1	+	11	6319	c.5459G>C	c.(5458-5460)aGt>aCt	p.S1820T	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.S1820T|TET2_ENST00000513237.1_Missense_Mutation_p.S1841T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1820					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)		CACAAATTAAGTGATGCTAAT	0.483			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0								ENSG00000168769						49	45	46					4																	106197126		692	1591	2283	TET2	SO:0001583	missense	0			-	HGNC	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.5459G>C	4.37:g.106197126G>C	ENSP00000442788:p.Ser1820Thr	Somatic	0	13	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	36.00	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP							NULL	p.S1820T	ENST00000540549.1	37	c.5459	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679821	0.00751	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.02050	4.49;4.48;4.49	5.33	-3.88	0.04205	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.00784	0.0026	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.001;0.006	T	0.46303	-0.9201	9	0.07325	T	0.83	.	4.5271	0.11986	0.2578:0.4717:0.1794:0.0912	.	1841;1820	E7EQS8;Q6N021	.;TET2_HUMAN	T	1820;1841;1820	ENSP00000442788:S1820T;ENSP00000425443:S1841T;ENSP00000369351:S1820T	ENSP00000369351:S1820T	S	+	2	0	TET2	106416575	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.092000	0.11129	-0.803000	0.04415	-0.218000	0.12543	AGT	-	NULL		0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	G	NM_017628	-		106197126	1	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	SNP	0.000	C	C	106197126	G	C	106197126	3	2	51	1	0	0	0	0	1	0	0	0	15777	1029	36	4	5582	4	TET2	4	106197126	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	324	106197126	84957150	11	2908											
EGF	1950	genome.wustl.edu	37	chr4	110897208	110897208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagggattaatccacgaattGaaagttcttccctccaaggc	8	11	1	1	rs567044142		TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:110897208G>A	ENST00000265171.5	+	13	2315	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	EGF_ENST00000503392.1_Missense_Mutation_p.E624K|EGF_ENST00000509793.1_Missense_Mutation_p.E582K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	624					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TCCACGAATTGAAAGTTCTTC	0.383																																																	0								ENSG00000138798						185	200	195					4																	110897208		2203	4300	6503	EGF	SO:0001583	missense	0			-	HGNC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1870G>A	4.37:g.110897208G>A	ENSP00000265171:p.Glu624Lys	Somatic	0	74	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	59	32.18	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP							pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.E624K	ENST00000265171.5	37	c.1870	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.400318	0.96030	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.93604	-3.25;-3.25;-3.25	5.66	5.66	0.87406	Six-bladed beta-propeller, TolB-like (1);	0.047963	0.85682	D	0.000000	D	0.97393	0.9147	M	0.90082	3.085	0.58432	D	0.999998	D;P;D	0.76494	0.998;0.941;0.999	D;P;D	0.74023	0.96;0.738;0.982	D	0.97417	1.0006	10	0.56958	D	0.05	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	624;582;624	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	K	582;624;624	ENSP00000424316:E582K;ENSP00000265171:E624K;ENSP00000421384:E624K	ENSP00000265171:E624K	E	+	1	0	EGF	111116657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.302000	0.89953	2.665000	0.90641	0.655000	0.94253	GAA	-	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.383	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	protein_coding	OTTHUMT00000255065.1	G		-		110897208	1	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110897208	G	A	110897208	3	1	51	1	0	0	0	0	1	0	0	0	4964	1291	45	2	1920	2	EGF	4	110897208	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	4700082	110897208	80257068	12	2909			1	39		4	4	130	G		1.073403e-12
EGF	1950	genome.wustl.edu	37	chr4	110897298	110897298	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taacgattgacttcttaactGacaagttgtactggtgcgat	9	7	1	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:110897298G>A	ENST00000265171.5	+	13	2405	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	EGF_ENST00000503392.1_Missense_Mutation_p.D654N|EGF_ENST00000509793.1_Missense_Mutation_p.D612N	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	654					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTTCTTAACTGACAAGTTGTA	0.478																																																	0								ENSG00000138798						148	136	140					4																	110897298		2203	4300	6503	EGF	SO:0001583	missense	0			-	HGNC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1960G>A	4.37:g.110897298G>A	ENSP00000265171:p.Asp654Asn	Somatic	0	65	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	55	24.66	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP							pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.D654N	ENST00000265171.5	37	c.1960	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726547	0.69074	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.93426	-3.22;-3.22;-3.22	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.138414	0.64402	D	0.000005	D	0.92945	0.7755	L	0.39020	1.185	0.44956	D	0.997973	P;P;P	0.49307	0.65;0.513;0.922	P;B;P	0.54060	0.465;0.261;0.741	D	0.92066	0.5660	10	0.39692	T	0.17	.	15.1628	0.72798	0.0692:0.0:0.9308:0.0	.	654;612;654	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	N	612;654;654	ENSP00000424316:D612N;ENSP00000265171:D654N;ENSP00000421384:D654N	ENSP00000265171:D654N	D	+	1	0	EGF	111116747	0.999000	0.42202	0.979000	0.43373	0.993000	0.82548	2.813000	0.48002	2.723000	0.93209	0.655000	0.94253	GAC	-	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.478	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	protein_coding	OTTHUMT00000255065.1	G		-		110897298	1	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	SNP	0.992	A	A	110897298	G	A	110897298	3	1	51	1	0	0	0	0	1	0	0	0	4964	1290	45	2	2010	2	EGF	4	110897298	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	90	110897298	80256978	13	2910			1	39		4	4	130	G		1.073403e-12
EGF	1950	genome.wustl.edu	37	chr4	110897311	110897311	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaactgacaagttgtactGgtgcgatgccaagcagtctg	11	9	1	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:110897311G>A	ENST00000265171.5	+	13	2418	c.1973G>A	c.(1972-1974)tGg>tAg	p.W658*	EGF_ENST00000503392.1_Nonsense_Mutation_p.W658*|EGF_ENST00000509793.1_Nonsense_Mutation_p.W616*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	658					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAGTTGTACTGGTGCGATGCC	0.493																																																	0								ENSG00000138798						145	129	135					4																	110897311		2203	4300	6503	EGF	SO:0001587	stop_gained	0			-	HGNC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1973G>A	4.37:g.110897311G>A	ENSP00000265171:p.Trp658*	Somatic	0	63	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Nonsense_Mutation	SNP							pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.W658*	ENST00000265171.5	37	c.1973	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.147415	0.98678	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	.	.	.	X	616;658;658	.	ENSP00000265171:W658X	W	+	2	0	EGF	111116760	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.302000	0.89953	2.723000	0.93209	0.655000	0.94253	TGG	-	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.493	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	protein_coding	OTTHUMT00000255065.1	G		-		110897311	1	no_errors	ENST00000265171	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	110897311	G	A	110897311	4	1	51	1	0	0	0	0	0	1	0	0	4964	1357	47	2	2023	2	EGF	4	110897311	Nonsense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	13	110897311	80256965	14	2911			1	39		4	4	130	G		1.073403e-12
EGF	1950	genome.wustl.edu	37	chr4	110897337	110897337	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgccaagcagtctgtgattGaaatggccaatctggatggt	12	7	2	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr4:110897337G>C	ENST00000265171.5	+	13	2444	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	EGF_ENST00000503392.1_Missense_Mutation_p.E667Q|EGF_ENST00000509793.1_Missense_Mutation_p.E625Q	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	667					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTCTGTGATTGAAATGGCCAA	0.448																																																	0								ENSG00000138798						126	107	113					4																	110897337		2203	4300	6503	EGF	SO:0001583	missense	0			-	HGNC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1999G>C	4.37:g.110897337G>C	ENSP00000265171:p.Glu667Gln	Somatic	0	54	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP							pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.E667Q	ENST00000265171.5	37	c.1999	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041147	0.93685	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95885	-3.84;-3.84;-3.84	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.98183	1.0458	10	0.62326	D	0.03	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	667;625;667	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Q	625;667;667	ENSP00000424316:E625Q;ENSP00000265171:E667Q;ENSP00000421384:E667Q	ENSP00000265171:E667Q	E	+	1	0	EGF	111116786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.302000	0.89953	2.723000	0.93209	0.655000	0.94253	GAA	-	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.448	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	protein_coding	OTTHUMT00000255065.1	G		-		110897337	1	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	SNP	1.000	C	C	110897337	G	C	110897337	3	2	51	1	0	0	0	0	1	0	0	0	4964	1291	45	4	2049	4	EGF	4	110897337	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	26	110897337	80256939	15	2912			1	39		4	4	130	G		1.073403e-12
IRX1	79192	genome.wustl.edu	37	chr5	3600753	3600753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccccaggccagattcgcCggcacagcagttaaagtcgc	11	15	0	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr5:3600753C>A	ENST00000302006.3	+	3	1395	c.1343C>A	c.(1342-1344)cCg>cAg	p.P448Q	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	448					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAGATTCGCCGGCACAGCAG	0.622																																																	0								ENSG00000170549						53	57	56					5																	3600753		2203	4300	6503	IRX1	SO:0001583	missense	0			-	HGNC	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1343C>A	5.37:g.3600753C>A	ENSP00000305244:p.Pro448Gln	Somatic	0	48	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q7Z2F8|Q8N312	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.P448Q	ENST00000302006.3	37	c.1343	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725982	0.48833	.	.	ENSG00000170549	ENST00000302006	T	0.59364	0.27	4.3	4.3	0.51218	.	0.376676	0.29119	N	0.013082	T	0.73590	0.3606	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.77191	-0.2678	10	0.62326	D	0.03	.	16.7596	0.85508	0.0:1.0:0.0:0.0	.	448	P78414	IRX1_HUMAN	Q	448	ENSP00000305244:P448Q	ENSP00000305244:P448Q	P	+	2	0	IRX1	3653753	0.984000	0.35163	0.026000	0.17262	0.023000	0.10783	3.924000	0.56476	1.918000	0.55548	0.563000	0.77884	CCG	-	NULL		0.622	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	protein_coding	OTTHUMT00000365546.1	C	NM_024337	-		3600753	1	no_errors	ENST00000302006	ensembl	human	known	74_37	missense	SNP	0.996	A	A	3600753	C	A	3600753	3	1	51	1	0	0	0	0	1	0	0	0	7845	652	23	3	1353	3	IRX1	5	3600753	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		3600753	177314507	16	2913											
MCC	4163	genome.wustl.edu	37	chr5	112437570	112437570	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcccagccagctccttctCccaccgagacctctcttcag	6	20	3	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr5:112437570C>A	ENST00000302475.4	-	6	1257	c.694G>T	c.(694-696)Gag>Tag	p.E232*	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Nonsense_Mutation_p.E169*|MCC_ENST00000408903.3_Nonsense_Mutation_p.E422*	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	232					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGCTCCTTCTCCCACCGAGAC	0.557																																																	0								ENSG00000171444						106	105	105					5																	112437570		2202	4300	6502	MCC	SO:0001587	stop_gained	0			-	HGNC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.694G>T	5.37:g.112437570C>A	ENSP00000305617:p.Glu232*	Somatic	0	22	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	D3DT05|Q6ZR04	Nonsense_Mutation	SNP							pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.E232*	ENST00000302475.4	37	c.694	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.735662	0.99251	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-29.7723	19.596	0.95538	0.0:1.0:0.0:0.0	.	.	.	.	X	232;169;422	.	ENSP00000305617:E232X	E	-	1	0	MCC	112465469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.180000	0.71981	2.711000	0.92665	0.655000	0.94253	GAG	-	superfamily_tRNA-bd_arm		0.557	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377	-		112437570	-1	no_errors	ENST00000302475	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	112437570	C	A	112437570	4	1	51	1	0	0	0	0	0	1	0	0	9375	864	30	3	1843	3	MCC	5	112437570	Nonsense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	108836817	112437570	68477690	17	2914											
SNX2	6643	genome.wustl.edu	37	chr5	122135524	122135524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagagtatgtctgctcccGtgatctttgatagatccagg	10	9	2	4	rs138514194		TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr5:122135524G>A	ENST00000379516.2	+	3	472	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	SNX2_ENST00000514949.1_Missense_Mutation_p.V5M|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	122					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.V122M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GTCTGCTCCCGTGATCTTTGA	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000205302	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	125	120	122		364	5.3	1	5	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNX2	NM_003100.2	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	122/520	122135524	2,13004	2203	4300	6503	SNX2	SO:0001583	missense	0			-	HGNC	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.364G>A	5.37:g.122135524G>A	ENSP00000368831:p.Val122Met	Somatic	0	30	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP							pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.V122M	ENST00000379516.2	37	c.364	CCDS34217.1	5	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623781	0.66901	2.27E-4	1.16E-4	ENSG00000205302	ENST00000379516;ENST00000505934;ENST00000514949	T;T;T	0.37411	2.06;1.2;1.77	5.35	5.35	0.76521	.	0.208459	0.41823	D	0.000815	T	0.42675	0.1213	L	0.36672	1.1	0.33634	D	0.60642	P	0.47034	0.889	P	0.50109	0.631	T	0.52335	-0.8589	10	0.46703	T	0.11	-17.0144	19.0659	0.93110	0.0:0.0:1.0:0.0	.	122	O60749	SNX2_HUMAN	M	122;121;5	ENSP00000368831:V122M;ENSP00000422413:V121M;ENSP00000421663:V5M	ENSP00000368831:V122M	V	+	1	0	SNX2	122163423	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	4.204000	0.58460	2.522000	0.85027	0.650000	0.86243	GTG	-	pfam_Sorting_nexin_N		0.413	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX2	protein_coding	OTTHUMT00000371392.1	G	NM_003100	rs138514194		122135524	1	no_errors	ENST00000379516	ensembl	human	known	74_37	missense	SNP	0.998	A	A	122135524	G	A	122135524	3	1	51	1	0	0	0	0	1	0	0	0	14899	1145	40	1	374	1	SNX2	5	122135524	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	9697954	122135524	58779736	18	2915											
FAT2	2196	genome.wustl.edu	37	chr5	150920164	150920164	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgttatcattgacgtccagGacaaagatctccacagtgac	8	11	2	3			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr5:150920164G>C	ENST00000261800.5	-	10	9015	c.9003C>G	c.(9001-9003)gtC>gtG	p.V3001V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3001	Cadherin 26. {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)			TGACGTCCAGGACAAAGATCT	0.547																																																	0								ENSG00000086570						98	82	87					5																	150920164		2203	4300	6503	FAT2	SO:0001819	synonymous_variant	0			-	HGNC	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.9003C>G	5.37:g.150920164G>C		Somatic	0	43	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	O75091|Q9NSR7	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3001	ENST00000261800.5	37	c.9003	CCDS4317.1	5																																																																																			-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	G	NM_001447	-		150920164	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	silent	SNP	0.860	C	C	150920164	G	C	150920164	2	2	51	1	0	0	0	0	0	0	0	1	5692	1161	41	4		4	FAT2	5	150920164	Silent	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	28784640	150920164	29995096	19	2916											
BAT2	7916	genome.wustl.edu	37	chr6	31604303	31604303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtacgccaggatctgcCatccccttcggatttttatt	8	12	1	0			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr6:31604303C>T	ENST00000376033.2	+	27	6086	c.5852C>T	c.(5851-5853)cCa>cTa	p.P1951L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1951L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1951	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGGATCTGCCATCCCCTTCG	0.512																																																	0								ENSG00000204469						145	164	157					6																	31604303		1510	2709	4219	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5852C>T	6.37:g.31604303C>T	ENSP00000365201:p.Pro1951Leu	Somatic	0	73	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.P1951L	ENST00000376033.2	37	c.5852	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707209	0.30322	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01572	4.76;4.76	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000096	T	0.01800	0.0057	L	0.36672	1.1	0.51767	D	0.999934	D	0.54207	0.965	P	0.48598	0.583	T	0.63681	-0.6582	10	0.87932	D	0	-7.0082	16.1031	0.81201	0.0:1.0:0.0:0.0	.	1951	P48634	PRC2A_HUMAN	L	1943;1932;1951;1951;1176	ENSP00000365175:P1951L;ENSP00000365201:P1951L	ENSP00000365175:P1951L	P	+	2	0	PRRC2A	31712282	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.840000	0.39230	2.784000	0.95788	0.551000	0.68910	CCA	-	NULL		0.512	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	C	NM_080686	-		31604303	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31604303	C	T	31604303	3	4	51	1	0	0	0	0	1	0	0	0	1319	594	21	2	5954	2	BAT2	6	31604303	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		31604303	139510764	20	2917											
SFRS3	6428	genome.wustl.edu	37	chr6	36564553	36564553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacagaaatgcatcgtgattCctgtccattggactgtaagg	10	8	0	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr6:36564553C>A	ENST00000373715.6	+	2	130	c.14C>A	c.(13-15)tCc>tAc	p.S5Y	SRSF3_ENST00000339436.7_Missense_Mutation_p.S5Y	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	5	Sufficiernt for interaction with NXF1.				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)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CATCGTGATTCCTGTCCATTG	0.383																																																	0								ENSG00000112081						128	125	126					6																	36564553		2203	4300	6503	SRSF3	SO:0001583	missense	0			-	HGNC	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.14C>A	6.37:g.36564553C>A	ENSP00000362820:p.Ser5Tyr	Somatic	0	54	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S5Y	ENST00000373715.6	37	c.14	CCDS4823.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164826	0.78339	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.13089	2.83;2.62	5.32	5.32	0.75619	.	0.100532	0.64402	D	0.000002	T	0.19846	0.0477	L	0.54323	1.7	0.58432	D	0.999994	D;D	0.61697	0.979;0.99	P;P	0.59357	0.605;0.856	T	0.01182	-1.1426	10	0.22706	T	0.39	.	19.363	0.94448	0.0:1.0:0.0:0.0	.	5;5	B4E241;P84103	.;SRSF3_HUMAN	Y	5	ENSP00000362820:S5Y;ENSP00000344762:S5Y	ENSP00000344762:S5Y	S	+	2	0	SRSF3	36672531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.720000	0.54933	2.648000	0.89879	0.561000	0.74099	TCC	-	NULL		0.383	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF3	protein_coding	OTTHUMT00000040347.2	C	NM_003017	-		36564553	1	no_errors	ENST00000373715	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36564553	C	A	36564553	3	1	51	1	0	0	0	0	1	0	0	0	14186	855	30	3	16	3	SFRS3	6	36564553	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	4960250	36564553	134550514	21	2918											
RHAG	6005	genome.wustl.edu	37	chr6	49604429	49604429	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgatgttgagctgctcgaGaacagtctggtccgtttcat	13	8	2	3			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr6:49604429G>A	ENST00000371175.4	-	1	123	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	RHAG_ENST00000229810.7_Missense_Mutation_p.L33F	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	33					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGCTGCTCGAGAACAGTCTGG	0.393																																					Ovarian(176;476 2003 7720 43408 44749)												0								ENSG00000112077						196	185	189					6																	49604429		2203	4300	6503	RHAG	SO:0001583	missense	0			-	HGNC		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.97C>T	6.37:g.49604429G>A	ENSP00000360217:p.Leu33Phe	Somatic	0	40	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP							pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.L33F	ENST00000371175.4	37	c.97	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	G	5.143	0.211964	0.09757	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.26373	1.74;1.74	5.32	-10.6	0.00265	Ammonium transporter AmtB-like (1);	5.215190	0.00166	N	0.000000	T	0.05456	0.0144	L	0.39245	1.2	0.09310	N	1	B;B;B	0.20261	0.043;0.001;0.043	B;B;B	0.32022	0.038;0.009;0.139	T	0.17198	-1.0377	10	0.54805	T	0.06	13.3027	1.0411	0.01559	0.1995:0.1106:0.3261:0.3639	.	33;33;33	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	F	33	ENSP00000360217:L33F;ENSP00000229810:L33F	ENSP00000229810:L33F	L	-	1	0	RHAG	49712388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.511000	0.00446	-3.726000	0.00115	-0.218000	0.12543	CTC	-	pfam_NH4_transpt_AmtB-like_dom		0.393	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	protein_coding	OTTHUMT00000043806.1	G		-		49604429	-1	no_errors	ENST00000371175	ensembl	human	known	74_37	missense	SNP	0.000	A	A	49604429	G	A	49604429	3	1	51	1	0	0	0	0	1	0	0	0	13323	942	33	2	1172	2	RHAG	6	49604429	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	13039876	49604429	121510638	22	2919											
C7orf46	340277	genome.wustl.edu	37	chr7	23737906	23737906	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctagttcttctccagaaAcgttaacagatggtaatgaa	7	8	3	3			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr7:23737906A>C	ENST00000344962.4	+	5	822	c.733A>C	c.(733-735)Acg>Ccg	p.T245P	FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409653.1_Missense_Mutation_p.T187P	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	245																	TTCTCCAGAAACGTTAACAGA	0.358																																																	0								ENSG00000188732						119	120	120					7																	23737906		2203	4299	6502	FAM221A	SO:0001583	missense	0			-	HGNC		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.733A>C	7.37:g.23737906A>C	ENSP00000342576:p.Thr245Pro	Somatic	0	40	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP							NULL	p.T245P	ENST00000344962.4	37	c.733	CCDS5385.1	7	.	.	.	.	.	.	.	.	.	.	A	3.672	-0.067351	0.07273	.	.	ENSG00000188732	ENST00000344962;ENST00000409653	T;T	0.14640	2.49;2.49	5.66	3.27	0.37495	.	0.677862	0.14992	N	0.286632	T	0.09818	0.0241	L	0.33485	1.01	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.35251	-0.9796	10	0.23891	T	0.37	-0.6925	7.352	0.26697	0.5496:0.3712:0.0792:0.0	.	245	A4D161	CG046_HUMAN	P	245;187	ENSP00000342576:T245P;ENSP00000386900:T187P	ENSP00000342576:T245P	T	+	1	0	C7orf46	23704431	0.021000	0.18746	0.566000	0.28421	0.129000	0.20672	2.068000	0.41471	0.500000	0.27991	-0.250000	0.11733	ACG	-	NULL		0.358	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM221A	protein_coding	OTTHUMT00000250261.1	A	NM_199136	-		23737906	1	no_errors	ENST00000344962	ensembl	human	known	74_37	missense	SNP	0.092	C	C	23737906	A	C	23737906	3	2	51	1	0	0	0	0	1	0	0	0	2398	43	2	5	751	5	C7orf46	7	23737906	Missense_Mutation	SNP	A	TCGA-DX-A3UA-01A-12D-A307-09		23737906	135400757	23	2920											
MET	4233	genome.wustl.edu	37	chr7	116340270	116340270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacttcttcaacaagatcGtcaacaaaaacaatgtgaga	6	9	3	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr7:116340270G>A	ENST00000318493.6	+	2	1319	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	MET_ENST00000397752.3_Missense_Mutation_p.V378I|MET_ENST00000436117.2_Missense_Mutation_p.V378I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAACAAGATCGTCAACAAAAA	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0								ENSG00000105976						104	96	99					7																	116340270		1925	4140	6065	MET	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	-	HGNC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1132G>A	7.37:g.116340270G>A	ENSP00000317272:p.Val378Ile	Somatic	0	31	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	33.33	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP							pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.V378I	ENST00000318493.6	37	c.1132	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715979	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04406	3.63;3.63;3.63	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.217393	0.48286	D	0.000198	T	0.14960	0.0361	L	0.56396	1.775	0.80722	D	1	P;B;D;B;B;B;B;B;P;B;B;D;D	0.61697	0.916;0.43;0.987;0.032;0.032;0.032;0.057;0.057;0.945;0.276;0.032;0.99;0.99	B;B;P;B;B;B;B;B;P;B;B;P;P	0.54460	0.298;0.116;0.713;0.021;0.021;0.016;0.031;0.031;0.476;0.104;0.025;0.753;0.753	T	0.00173	-1.1957	10	0.35671	T	0.21	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	378;378;378;378;378;378;378;378;378;378;378;378;378	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	I	378	ENSP00000380860:V378I;ENSP00000317272:V378I;ENSP00000410980:V378I	ENSP00000317272:V378I	V	+	1	0	MET	116127506	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	6.696000	0.74598	2.873000	0.98535	0.563000	0.77884	GTC	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	protein_coding	OTTHUMT00000059620.3	G		-		116340270	1	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116340270	G	A	116340270	3	1	51	1	0	0	0	0	1	0	0	0	9487	1145	40	1	1134	1	MET	7	116340270	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	92602364	116340270	42798393	24	2921											
OR1L6	392390	genome.wustl.edu	37	chr9	125512914	125512914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatgtctattttaggcCcctgtccatgtactcagtgg	8	9	2	0			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr9:125512914C>T	ENST00000373684.1	+	1	896	c.896C>T	c.(895-897)cCc>cTc	p.P299L	OR1L6_ENST00000304720.2_Missense_Mutation_p.P263L			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TATTTTAGGCCCCTGTCCATG	0.507																																																	0								ENSG00000171459						106	90	96					9																	125512914		2203	4300	6503	OR1L6	SO:0001583	missense	0			-	HGNC		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.896C>T	9.37:g.125512914C>T	ENSP00000362788:p.Pro299Leu	Somatic	0	59	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	63	25.88	Q6IFM8|Q96R80	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P299L	ENST00000373684.1	37	c.896		9	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047569	0.55110	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00279	8.33;8.33	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000044	T	0.00906	0.0030	M	0.90650	3.135	0.39774	D	0.972202	D	0.89917	1.0	D	0.97110	1.0	T	0.64761	-0.6331	10	0.72032	D	0.01	-35.1133	16.0696	0.80914	0.0:1.0:0.0:0.0	.	299	Q8NGR2	OR1L6_HUMAN	L	299;263	ENSP00000362788:P299L;ENSP00000304235:P263L	ENSP00000304235:P263L	P	+	2	0	OR1L6	124552735	0.873000	0.30073	0.998000	0.56505	0.993000	0.82548	2.294000	0.43567	2.392000	0.81423	0.655000	0.94253	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	protein_coding		C		-		125512914	1	no_errors	ENST00000373684	ensembl	human	known	74_37	missense	SNP	0.589	T	T	125512914	C	T	125512914	3	4	51	1	0	0	0	0	1	0	0	0	10968	623	22	2	790	2	OR1L6	9	125512914	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		125512914	15700517	25	2922											
SAR1A	56681	genome.wustl.edu	37	chr10	71921382	71921382	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaacctactcggatgTagtgttggaacatgttggcc	10	8	1	0			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr10:71921382T>C	ENST00000373242.2	-	4	367	c.171A>G	c.(169-171)ctA>ctG	p.L57L	SAR1A_ENST00000431664.2_Silent_p.L57L|SAR1A_ENST00000373241.4_Silent_p.L57L|SAR1A_ENST00000458634.2_Silent_p.L14L|SAR1A_ENST00000373238.1_Silent_p.L57L|SAR1A_ENST00000373236.1_Silent_p.L57L|SAR1A_ENST00000477464.1_5'UTR	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	57					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TACTCGGATGTAGTGTTGGAA	0.398																																																	0								ENSG00000079332						103	94	97					10																	71921382		2203	4300	6503	SAR1A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"SAR1a gene homolog (S. cerevisiae) 1", "SAR1a gene homolog 1 (S. cerevisiae)", "SAR1 homolog A (S. cerevisiae)"	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.171A>G	10.37:g.71921382T>C		Somatic	0	55	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B4DQ19	Silent	SNP							pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L57	ENST00000373242.2	37	c.171	CCDS7298.1	10																																																																																			-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.398	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1A	protein_coding	OTTHUMT00000048500.2	T		-		71921382	-1	no_errors	ENST00000373238	ensembl	human	known	74_37	silent	SNP	0.893	C	C	71921382	T	C	71921382	2	2	51	1	0	0	0	0	0	0	0	1	13847	1625	57	5		5	SAR1A	10	71921382	Silent	SNP	T	TCGA-DX-A3UA-01A-12D-A307-09		71921382	63613365	26	2923											
RIN1	9610	genome.wustl.edu	37	chr11	66102588	66102588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctaggtcccccgggaacaGggggttgaagaagcacaagg	15	11	0	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr11:66102588G>T	ENST00000311320.4	-	6	808	c.682C>A	c.(682-684)Ctg>Atg	p.L228M	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000424433.2_Missense_Mutation_p.L123M|RIN1_ENST00000530056.1_Missense_Mutation_p.L123M|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	228					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)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCGGGAACAGGGGGTTGAAG	0.662																																																	0								ENSG00000174791						50	52	51					11																	66102588		2200	4294	6494	RIN1	SO:0001583	missense	0			-	HGNC	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.682C>A	11.37:g.66102588G>T	ENSP00000310406:p.Leu228Met	Somatic	0	27	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	O15010|Q00427|Q96CC8	Missense_Mutation	SNP							pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.L228M	ENST00000311320.4	37	c.682	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795669	0.70452	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.23147	2.47;2.36;1.92	4.43	2.47	0.30058	.	0.000000	0.56097	D	0.000023	T	0.41650	0.1168	L	0.59436	1.845	0.30885	N	0.731035	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.988	T	0.40156	-0.9578	10	0.72032	D	0.01	-17.4522	7.8454	0.29422	0.2141:0.0:0.7858:0.0	.	123;228	E9PNR2;Q13671	.;RIN1_HUMAN	M	228;123;123	ENSP00000310406:L228M;ENSP00000400560:L123M;ENSP00000432798:L123M	ENSP00000310406:L228M	L	-	1	2	RIN1	65859164	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.037000	0.41174	0.980000	0.38523	0.462000	0.41574	CTG	-	NULL		0.662	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	G	NM_004292	-		66102588	-1	no_errors	ENST00000311320	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66102588	G	T	66102588	3	4	51	1	0	0	0	0	1	0	0	0	13379	991	35	3	1689	3	RIN1	11	66102588	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09		66102588	68903928	27	2924											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3768815	3768815	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcatcataagcagcaAttttcctacagaggtggcaa	7	9	3	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr12:3768815A>C	ENST00000252322.1	-	8	1145	c.677T>G	c.(676-678)aTt>aGt	p.I226S	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.I226S|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.I226S	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		226					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			ATAAGCAGCAATTTTCCTACA	0.483																																																	0								ENSG00000130038						154	133	140					12																	3768815		2203	4300	6503	EFCAB4B	SO:0001583	missense	0			-	HGNC																												ENST00000252322.1:c.677T>G	12.37:g.3768815A>C	ENSP00000252322:p.Ile226Ser	Somatic	0	39	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	18	57.14	B4E1X0|B9EK63	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.I226S	ENST00000252322.1	37	c.677	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978614	0.53720	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.21361	2.01;2.65;2.66	4.86	3.7	0.42460	.	0.169109	0.52532	D	0.000066	T	0.33731	0.0873	L	0.48362	1.52	0.39417	D	0.966845	P;D;D	0.76494	0.852;0.988;0.999	B;P;D	0.83275	0.177;0.852;0.996	T	0.07770	-1.0755	10	0.18276	T	0.48	-6.5727	10.2851	0.43562	0.8339:0.1661:0.0:0.0	.	226;226;226	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	S	226	ENSP00000409382:I226S;ENSP00000412496:I226S;ENSP00000252322:I226S	ENSP00000252322:I226S	I	-	2	0	EFCAB4B	3639076	1.000000	0.71417	0.981000	0.43875	0.882000	0.50991	5.206000	0.65192	0.800000	0.34041	0.533000	0.62120	ATT	-	NULL		0.483	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	protein_coding	OTTHUMT00000398673.1	A		-		3768815	-1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	SNP	0.992	C	C	3768815	A	C	3768815	3	2	51	1	0	0	0	0	1	0	0	0	4939	101	4	5	1762	5	EFCAB4B	12	3768815	Missense_Mutation	SNP	A	TCGA-DX-A3UA-01A-12D-A307-09		3768815	130083080	28	2925											
PLBD1	79887	genome.wustl.edu	37	chr12	14656854	14656854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggaccacttatggcatagGatgtgtactgagatgctagg	14	6	0	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr12:14656854G>T	ENST00000240617.5	-	11	2166	c.1514C>A	c.(1513-1515)tCc>tAc	p.S505Y		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	505					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|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)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TATGGCATAGGATGTGTACTG	0.468																																																	0								ENSG00000121316						125	109	114					12																	14656854		2203	4300	6503	PLBD1	SO:0001583	missense	0			-	HGNC	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1514C>A	12.37:g.14656854G>T	ENSP00000240617:p.Ser505Tyr	Somatic	0	35	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP							pfam_PLipase_B-like	p.S505Y	ENST00000240617.5	37	c.1514	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623812	0.66901	.	.	ENSG00000121316	ENST00000240617	T	0.17213	2.29	5.87	4.98	0.66077	.	0.098892	0.64402	D	0.000001	T	0.39172	0.1068	M	0.65498	2.005	0.32654	N	0.519048	D	0.56521	0.976	D	0.63703	0.917	T	0.55829	-0.8079	10	0.87932	D	0	-15.9511	15.8279	0.78727	0.0:0.1349:0.8651:0.0	.	505	Q6P4A8	PLBL1_HUMAN	Y	505	ENSP00000240617:S505Y	ENSP00000240617:S505Y	S	-	2	0	PLBD1	14548121	1.000000	0.71417	0.990000	0.47175	0.380000	0.30137	9.434000	0.97515	1.616000	0.50265	-0.165000	0.13383	TCC	-	pfam_PLipase_B-like		0.468	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	protein_coding	OTTHUMT00000401203.1	G	NM_024829	-		14656854	-1	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14656854	G	T	14656854	3	4	51	1	0	0	0	0	1	0	0	0	12027	1174	41	3	151	3	PLBD1	12	14656854	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	10888039	14656854	119195041	29	2926											
KRT77	374454	genome.wustl.edu	37	chr12	53086631	53086631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttcttcaggtcgtctcCatgtctccctgccgtgatct	9	14	5	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr12:53086631C>T	ENST00000341809.3	-	6	1142	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.G139R	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	372	Coil 2.|Rod.					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						AGGTCGTCTCCATGTCTCCCT	0.587																																																	0								ENSG00000189182						182	128	146					12																	53086631		2202	4272	6474	KRT77	SO:0001583	missense	0			-	HGNC	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.1114G>A	12.37:g.53086631C>T	ENSP00000342710:p.Gly372Arg	Somatic	0	34	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	Q7RTS8	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G372R	ENST00000341809.3	37	c.1114	CCDS8837.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524148	0.85600	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	T;T	0.76839	-0.78;-1.05	3.44	2.53	0.30540	Filament (1);	.	.	.	.	D	0.88437	0.6436	M	0.88377	2.95	0.39453	D	0.967431	D	0.76494	0.999	D	0.75020	0.985	D	0.90665	0.4593	9	0.72032	D	0.01	.	13.0875	0.59149	0.1617:0.8383:0.0:0.0	.	372	Q7Z794	K2C1B_HUMAN	R	372;139	ENSP00000342710:G372R;ENSP00000440803:G139R	ENSP00000342710:G372R	G	-	1	0	KRT77	51372898	0.998000	0.40836	0.128000	0.21923	0.469000	0.32828	4.767000	0.62286	1.009000	0.39289	0.456000	0.33151	GGA	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_II		0.587	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT77	protein_coding	OTTHUMT00000404111.1	C	NM_175078	-		53086631	-1	no_errors	ENST00000341809	ensembl	human	known	74_37	missense	SNP	0.999	T	T	53086631	C	T	53086631	3	4	51	1	0	0	0	0	1	0	0	0	8492	603	21	2	638	2	KRT77	12	53086631	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	38429777	53086631	80765264	30	2927											
MDGA2	161357	genome.wustl.edu	37	chr14	47324254	47324254	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaattgggtatatattAacatgagcctcattccatct	7	7	2	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr14:47324254A>C	ENST00000399232.2	-	15	3013	c.2649T>G	c.(2647-2649)gtT>gtG	p.V883V	MDGA2_ENST00000357362.3_Silent_p.V654V|MDGA2_ENST00000426342.1_Silent_p.V654V|MDGA2_ENST00000399222.3_Silent_p.V85V|MDGA2_ENST00000439988.3_Silent_p.V952V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	883	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTATATATTAACATGAGCCT	0.328																																																	0								ENSG00000272781						140	129	132					14																	47324254		1824	4075	5899	MDGA2	SO:0001819	synonymous_variant	0			-	Uniprot_gn	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2649T>G	14.37:g.47324254A>C		Somatic	0	40	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	36.67	F6W3S7|J3KPX6	Silent	SNP							pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.V952	ENST00000399232.2	37	c.2856		14																																																																																			-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.328	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	protein_coding	OTTHUMT00000073352.5	A	NM_182830	-		47324254	-1	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	SNP	0.999	C	C	47324254	A	C	47324254	2	2	51	1	0	0	0	0	0	0	0	1	9409	349	13	5		5	MDGA2	14	47324254	Silent	SNP	A	TCGA-DX-A3UA-01A-12D-A307-09		47324254	60025286	31	2928											
TGM7	116179	genome.wustl.edu	37	chr15	43579632	43579632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagttcccctgcagcacGccattgtcatcgttgctgtt	8	16	1	0			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr15:43579632G>A	ENST00000452443.2	-	6	715	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	237					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCAGCACGCCATTGTCAT	0.607																																																	0								ENSG00000159495						93	81	85					15																	43579632		2202	4299	6501	TGM7	SO:0001819	synonymous_variant	0			-	HGNC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.711C>T	15.37:g.43579632G>A		Somatic	0	44	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Silent	SNP							pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G237	ENST00000452443.2	37	c.711	CCDS32213.1	15																																																																																			-	NULL		0.607	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	protein_coding	OTTHUMT00000432489.1	G	NM_052955	-		43579632	-1	no_errors	ENST00000452443	ensembl	human	known	74_37	silent	SNP	0.680	A	A	43579632	G	A	43579632	2	1	51	1	0	0	0	0	0	0	0	1	15842	1074	38	1		1	TGM7	15	43579632	Silent	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09		43579632	58951760	32	2929											
IGDCC3	9543	genome.wustl.edu	37	chr15	65624330	65624330	+	Frame_Shift_Del	DEL	T	T	-													ctggccccagcacctgtccaTttttcagccacgtgacatga							TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr15:65624330delT	ENST00000327987.4	-	7	1348	c.1097delA	c.(1096-1098)aatfs	p.N366fs	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	366	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCTGTCCATTTTTCAGCCA	0.602																																																	0								ENSG00000174498						103	88	93					15																	65624330		2201	4299	6500	IGDCC3	SO:0001589	frameshift_variant	0				HGNC	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1097delA	15.37:g.65624330delT	ENSP00000332773:p.Asn366fs	Somatic	0	24	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	O95215	Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N366fs	ENST00000327987.4	37	c.1097	CCDS10205.1	15																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	protein_coding	OTTHUMT00000256826.1	T	NM_004884			65624330	-1	no_errors	ENST00000327987	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	65624330	T	-	65624330	7	5	51	1	0	1	0	1	0	0	0	0	7570	1493	52	0	1379	0	IGDCC3	15	65624330	Frame_Shift_Del	DEL	T	TCGA-DX-A3UA-01A-12D-A307-09	22044698	65624330	36907062	33	2930											
ANPEP	290	genome.wustl.edu	37	chr15	90349396	90349396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggagcctcccacaccaCgcaggaccaccctgtgcccc	10	20	0	0	rs145360414	byFrequency	TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr15:90349396C>T	ENST00000300060.6	-	2	732	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	140	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCCACACCACGCAGGACCAC	0.617																																					NSCLC(30;827 977 2459 19669 26125)												0								ENSG00000166825	C	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	79	68	72		419	2.1	0.1	15	dbSNP_134	72	0,8598		0,0,4299	no	missense	ANPEP	NM_001150.2	29	0,2,6497	TT,TC,CC		0.0,0.0455,0.0154	benign	140/968	90349396	2,12996	2200	4299	6499	ANPEP	SO:0001583	missense	0			-	HGNC	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.419G>A	15.37:g.90349396C>T	ENSP00000300060:p.Arg140His	Somatic	0	38	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R140H	ENST00000300060.6	37	c.419	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787103	0.16189	4.55E-4	0.0	ENSG00000166825	ENST00000300060	T	0.02737	4.18	5.07	2.09	0.27110	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.705140	0.02757	N	0.118153	T	0.04363	0.0120	L	0.50919	1.6	0.09310	N	1	B	0.22909	0.077	B	0.22386	0.039	T	0.40776	-0.9545	10	0.42905	T	0.14	.	4.5329	0.12013	0.0:0.5844:0.187:0.2287	.	140	P15144	AMPN_HUMAN	H	140	ENSP00000300060:R140H	ENSP00000300060:R140H	R	-	2	0	ANPEP	88150400	0.000000	0.05858	0.115000	0.21578	0.159000	0.22180	-0.669000	0.05262	1.113000	0.41760	0.563000	0.77884	CGT	-	pfam_Peptidase_M1_N		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	protein_coding	OTTHUMT00000313425.1	C		rs145360414		90349396	-1	no_errors	ENST00000300060	ensembl	human	known	74_37	missense	SNP	0.042	T	T	90349396	C	T	90349396	3	4	51	1	0	0	0	0	1	0	0	0	710	536	19	1	2564	1	ANPEP	15	90349396	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	24725066	90349396	12181996	34	2931											
KIAA0664	23277	genome.wustl.edu	37	chr17	2603734	2603734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttgcgaggcagctccCtcgtcgtctgcagctcctca	11	15	3	0			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr17:2603734C>A	ENST00000570628.2	-	9	1199	c.1094G>T	c.(1093-1095)aGg>aTg	p.R365M	CLUH_ENST00000435359.1_Missense_Mutation_p.R365M|CLUH_ENST00000538975.1_Missense_Mutation_p.R365M			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	365					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											AGGCAGCTCCCTCGTCGTCTG	0.622																																																	0								ENSG00000132361						31	35	34					17																	2603734		2034	4184	6218	CLUH	SO:0001583	missense	0			-	HGNC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1094G>T	17.37:g.2603734C>A	ENSP00000458986:p.Arg365Met	Somatic	0	56	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP							superfamily_GSKIP_dom	p.R365M	ENST00000570628.2	37	c.1094	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117841	0.56505	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.83250	-1.7;-1.7	5.4	4.43	0.53597	.	0.123171	0.64402	D	0.000001	D	0.91570	0.7337	M	0.87381	2.88	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92729	0.6198	10	0.87932	D	0	.	13.4179	0.60979	0.0:0.9241:0.0:0.0759	.	365;365	O75153;C9J6D7	K0664_HUMAN;.	M	365	ENSP00000388872:R365M;ENSP00000439628:R365M	ENSP00000320468:R365M	R	-	2	0	KIAA0664	2550484	1.000000	0.71417	0.944000	0.38274	0.003000	0.03518	7.464000	0.80887	1.290000	0.44636	-0.300000	0.09419	AGG	-	NULL		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	protein_coding	OTTHUMT00000437807.2	C	NM_015229	-		2603734	-1	no_errors	ENST00000435359	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2603734	C	A	2603734	3	1	51	1	0	0	0	0	1	0	0	0	8191	681	24	3	2907	3	KIAA0664	17	2603734	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		2603734	78591476	35	2932											
KRT10	3858	genome.wustl.edu	37	chr17	38975103	38975104	+	In_Frame_Ins	INS	-	-	GCT													gacttgtggcctccgctggaINSgctgccgccgccgtatccgc							TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr17:38975103_38975104insGCT	ENST00000269576.5	-	7	1692_1693	c.1683_1684insAGC	c.(1681-1686)agctcc>agcAGCtcc	p.561_562SS>SSS	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	561	Gly-rich.|Ser-rich.|Tail.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CCTCCGCTGGAgctgccgccgc	0.683																																																	0								ENSG00000186395																																			KRT10	SO:0001652	inframe_insertion	0				HGNC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1681_1683dupAGC	17.37:g.38975104_38975106dupGCT	ENSP00000269576:p.Ser562_Ser563dup	Somatic	0	29	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q14664|Q8N175	In_Frame_Ins	INS							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.563in_frame_insS	ENST00000269576.5	37	c.1684_1683	CCDS11377.1	17																																																																																			-	NULL		0.683	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	protein_coding	OTTHUMT00000257875.1	-	NM_000421			38975104	-1	no_errors	ENST00000269576	ensembl	human	known	74_37	in_frame_ins	INS	0.124:0.323	GCT	GCT	38975104	-	GCT	38975103	7	5	51	1	0	1	1	0	0	0	0	0	8450	304	11	0	78	0	KRT10	17	38975103	In_Frame_Ins	INS	-	TCGA-DX-A3UA-01A-12D-A307-09	36371369	38975103	42220107	36	2933											
HCN2	610	genome.wustl.edu	37	chr19	616057	616057	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcgtggggccgctggcGctcggctcgccgcgcctcgt	16	18	0	0	rs201222040	byFrequency	TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr19:616057G>C	ENST00000251287.2	+	8	2306	c.2253G>C	c.(2251-2253)gcG>gcC	p.A751A	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	751	Pro-rich.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GGCCGCTGGCGCTCGGCTCGC	0.851													G|||	1035	0.206669	0.1634	0.1571	5008	,	,		3853	0.25		0.2356	False		,,,				2504	0.226				Melanoma(145;1175 2427 8056 36306)												0								ENSG00000099822						1	1	1					19																	616057		152	300	452	HCN2	SO:0001819	synonymous_variant	0			-	HGNC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.2253G>C	19.37:g.616057G>C		Somatic	0	8	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00	O60742|O60743|O75267|Q9UBS2	Silent	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.A751	ENST00000251287.2	37	c.2253	CCDS12035.1	19																																																																																			-	NULL		0.851	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	protein_coding	OTTHUMT00000452100.1	G	NM_001194	rs201222040		616057	1	no_errors	ENST00000251287	ensembl	human	known	74_37	silent	SNP	0.061	C	C	616057	G	C	616057	2	2	51	1	0	0	0	0	0	0	0	1	6999	1074	38	4		4	HCN2	19	616057	Silent	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09		616057	58512926	37	2934											
SAFB2	9667	genome.wustl.edu	37	chr19	5592842	5592842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccggggaaagtctgcaCgatatcggtcctccattgcc	12	13	1	0	rs547264084		TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr19:5592842C>T	ENST00000252542.4	-	16	2528	c.2264G>A	c.(2263-2265)cGt>cAt	p.R755H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	755	Arg-rich.|Interacts with SAFB1.				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)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AAAGTCTGCACGATATCGGTC	0.502																																					Ovarian(127;888 1728 23957 44128 52668)												0								ENSG00000130254						158	119	132					19																	5592842		2203	4300	6503	SAFB2	SO:0001583	missense	0			-	HGNC	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2264G>A	19.37:g.5592842C>T	ENSP00000252542:p.Arg755His	Somatic	0	43	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DKG3|Q8TB13	Missense_Mutation	SNP							pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R755H	ENST00000252542.4	37	c.2264	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546912	0.13312	.	.	ENSG00000130254	ENST00000252542	T	0.09723	2.95	4.7	3.67	0.42095	.	0.357092	0.24076	N	0.041769	T	0.08268	0.0206	L	0.38175	1.15	0.54753	D	0.999981	B	0.15473	0.013	B	0.08055	0.003	T	0.21381	-1.0247	10	0.24483	T	0.36	-7.8794	7.9751	0.30151	0.0:0.7567:0.0:0.2433	.	755	Q14151	SAFB2_HUMAN	H	755	ENSP00000252542:R755H	ENSP00000252542:R755H	R	-	2	0	SAFB2	5543842	0.935000	0.31712	0.668000	0.29813	0.049000	0.14656	1.888000	0.39708	0.969000	0.38237	0.561000	0.74099	CGT	-	NULL		0.502	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	protein_coding	OTTHUMT00000451016.1	C	NM_014649	-		5592842	-1	no_errors	ENST00000252542	ensembl	human	known	74_37	missense	SNP	0.981	T	T	5592842	C	T	5592842	3	4	51	1	0	0	0	0	1	0	0	0	13815	536	19	1	621	1	SAFB2	19	5592842	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	4976785	5592842	53536141	38	2935											
TSHZ3	57616	genome.wustl.edu	37	chr19	31768099	31768099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagacttctcggagatgCtggaaggagtggaggatttt	15	5	2	2			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr19:31768099C>T	ENST00000240587.4	-	2	2927	c.2600G>A	c.(2599-2601)aGc>aAc	p.S867N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	867					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)					CTCGGAGATGCTGGAAGGAGT	0.557																																																	0								ENSG00000121297						95	91	92					19																	31768099		2203	4300	6503	TSHZ3	SO:0001583	missense	0			-	HGNC	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.2600G>A	19.37:g.31768099C>T	ENSP00000240587:p.Ser867Asn	Somatic	0	31	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q9H0G6|Q9P254	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S867N	ENST00000240587.4	37	c.2600	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486646	0.63962	.	.	ENSG00000121297	ENST00000240587	T	0.13307	2.6	5.09	5.09	0.68999	.	0.040486	0.85682	D	0.000000	T	0.19167	0.0460	L	0.46157	1.445	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.00978	-1.1493	10	0.41790	T	0.15	-23.5578	18.4995	0.90876	0.0:1.0:0.0:0.0	.	867	Q63HK5	TSH3_HUMAN	N	867	ENSP00000240587:S867N	ENSP00000240587:S867N	S	-	2	0	TSHZ3	36459939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.455000	0.80726	2.351000	0.79841	0.591000	0.81541	AGC	-	NULL		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	C	NM_020856	-		31768099	-1	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31768099	C	T	31768099	3	4	51	1	0	0	0	0	1	0	0	0	16632	797	28	2	649	2	TSHZ3	19	31768099	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	26175257	31768099	27360884	39	2936											
LSR	51599	genome.wustl.edu	37	chr19	35739793	35739793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccagaatgcaacaggaCggacttggagtagggacaag	13	8	0	1	rs376521122		TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr19:35739793C>T	ENST00000361790.3	+	1	171	c.12C>T	c.(10-12)gaC>gaT	p.D4D	LSR_ENST00000602122.1_Silent_p.D4D|LSR_ENST00000347609.4_Silent_p.D4D|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000597933.1_Intron|LSR_ENST00000360798.3_Silent_p.D4D|LSR_ENST00000354900.3_Silent_p.D4D|LSR_ENST00000427250.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	4					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCAACAGGACGGACTTGGAG	0.587																																																	0								ENSG00000105699	C	,,	0,4406		0,0,2203	60	60	60		12,12,12	-6.4	0	19		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LSR	NM_015925.5,NM_205834.2,NM_205835.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	4/631,4/650,4/582	35739793	1,13005	2203	4300	6503	LSR	SO:0001819	synonymous_variant	0			-	HGNC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.12C>T	19.37:g.35739793C>T		Somatic	0	36	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP							pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.D4	ENST00000361790.3	37	c.12	CCDS12450.1	19																																																																																			-	NULL		0.587	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	protein_coding	OTTHUMT00000465513.2	C	NM_015925	-		35739793	1	no_errors	ENST00000361790	ensembl	human	known	74_37	silent	SNP	0.000	T	T	35739793	C	T	35739793	2	4	51	1	0	0	0	0	0	0	0	1	9066	535	19	1		1	LSR	19	35739793	Silent	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09	3971694	35739793	23389190	40	2937											
CRX	1406	genome.wustl.edu	37	chr19	48339521	48339521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccccaggaagcagcggcGggagcgcaccaccttcaccc	12	19	1	0	rs61748436		TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr19:48339521G>A	ENST00000221996.7	+	3	328	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R41Q	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	41			R -> Q (in RP). {ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}.|R -> W (in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL). {ECO:0000269|PubMed:9427255}.		circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AAGCAGCGGCGGGAGCGCACC	0.652																																					Pancreas(57;461 1196 22201 40716 47188)												0			GRCh37	CM970396	CRX	M	rs61748436	ENSG00000105392						53	62	59					19																	48339521		2203	4300	6503	CRX	SO:0001583	missense	0			-	HGNC	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.122G>A	19.37:g.48339521G>A	ENSP00000221996:p.Arg41Gln	Somatic	0	38	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	Q0QD45	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R41Q	ENST00000221996.7	37	c.122	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368074	0.61513	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.97066	-4.23;-4.23	3.67	3.67	0.42095	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98239	0.9417	M	0.84511	2.7	0.80722	A	1	D	0.71674	0.998	D	0.76575	0.988	D	0.99921	1.1255	9	0.59425	D	0.04	-18.357	12.8982	0.58111	0.0:0.0:1.0:0.0	rs61748436	41	O43186	CRX_HUMAN	Q	41	ENSP00000221996:R41Q;ENSP00000445565:R41Q	ENSP00000221996:R41Q	R	+	2	0	CRX	53031333	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	8.973000	0.93428	1.883000	0.54544	0.205000	0.17691	CGG	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.652	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	protein_coding	OTTHUMT00000409812.4	G	NM_000554	rs61748436		48339521	1	no_errors	ENST00000221996	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48339521	G	A	48339521	3	1	51	1	0	0	0	0	1	0	0	0	3904	1116	39	1	128	1	CRX	19	48339521	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	12599728	48339521	10789462	41	2938											
CEP250	11190	genome.wustl.edu	37	chr20	34078472	34078472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtggccaggagaaggagCgctcctggcaccagcaggag	16	11	0	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr20:34078472C>T	ENST00000397527.1	+	21	3316	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	866	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGAAGGAGCGCTCCTGGCA	0.507																																																	0								ENSG00000126001						51	57	55					20																	34078472		2203	4300	6503	CEP250	SO:0001583	missense	0			-	HGNC	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2596C>T	20.37:g.34078472C>T	ENSP00000380661:p.Arg866Cys	Somatic	0	32	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP							superfamily_Prefoldin	p.R866C	ENST00000397527.1	37	c.2596	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288911	0.40494	.	.	ENSG00000126001	ENST00000397527	T	0.13089	2.62	4.69	2.76	0.32466	.	0.360941	0.23941	N	0.043053	T	0.12433	0.0302	L	0.52364	1.645	0.37884	D	0.930497	B	0.19706	0.038	B	0.17098	0.017	T	0.07065	-1.0792	10	0.49607	T	0.09	.	7.3103	0.26471	0.0:0.7998:0.0:0.2002	.	866	Q9BV73	CP250_HUMAN	C	866	ENSP00000380661:R866C	ENSP00000380661:R866C	R	+	1	0	CEP250	33541886	0.424000	0.25490	0.860000	0.33809	0.933000	0.57130	0.228000	0.17814	0.719000	0.32188	0.555000	0.69702	CGC	-	NULL		0.507	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	C	NM_007186	-		34078472	1	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	SNP	0.618	T	T	34078472	C	T	34078472	3	4	51	1	0	0	0	0	1	0	0	0	3254	768	27	1	2666	1	CEP250	20	34078472	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		34078472	28947048	42	2939											
FTCD	10841	genome.wustl.edu	37	chr21	47575384	47575384	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagctcctcgggcctcacCtcctggttcttcccctccga	7	20	2	0	rs200172430		TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr21:47575384C>A	ENST00000291670.5	-	1	97	c.54G>T	c.(52-54)gaG>gaT	p.E18D	FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Splice_Site_p.E18D|FTCD_ENST00000397743.1_Splice_Site_p.E18D|FTCD_ENST00000397748.1_Splice_Site_p.E18D|FTCD_ENST00000355384.2_Splice_Site_p.E18D|FTCD_ENST00000359679.2_Splice_Site_p.E18D	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	18	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CGGGCCTCACCTCCTGGTTCT	0.617																																																	0								ENSG00000160282						111	81	91					21																	47575384		2200	4299	6499	FTCD	SO:0001630	splice_region_variant	0			-	HGNC	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.54+1G>T	21.37:g.47575384C>A		Somatic	0	35	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP							pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.E18D	ENST00000291670.5	37	c.54	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407818	0.62399	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.22	5.22	0.72569	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.293423	0.37304	N	0.002141	T	0.74733	0.3755	L	0.55481	1.735	0.80722	D	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.11329	0.006;0.005;0.005	T	0.69191	-0.5210	9	.	.	.	-10.9055	18.7565	0.91835	0.0:1.0:0.0:0.0	.	18;18;18	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	D	18	ENSP00000291670:E18D;ENSP00000380856:E18D;ENSP00000352707:E18D;ENSP00000347545:E18D;ENSP00000380854:E18D;ENSP00000380851:E18D	.	E	-	3	2	FTCD	46399812	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.453000	0.80700	2.434000	0.82447	0.591000	0.81541	GAG	-	pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat		0.617	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	protein_coding	OTTHUMT00000206962.1	C	NM_006657	-	Missense_Mutation	47575384	-1	no_errors	ENST00000359679	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47575384	C	A	47575384	5	1	51	1	0	0	0	0	0	0	1	0	6083	695	24	3	1627	3	FTCD	21	47575384	Splice_Site	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		47575384	554511	43	2940											
ZBED4	9889	genome.wustl.edu	37	chr22	50279664	50279664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagtggcaacagcattcAgaagcagctggagtgctggt	13	9	1	1			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chr22:50279664A>G	ENST00000216268.5	+	2	2831	c.2354A>G	c.(2353-2355)cAg>cGg	p.Q785R		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	785						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)		AACAGCATTCAGAAGCAGCTG	0.642																																																	0								ENSG00000100426						34	33	33					22																	50279664		2203	4300	6503	ZBED4	SO:0001583	missense	0			-	HGNC	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.2354A>G	22.37:g.50279664A>G	ENSP00000216268:p.Gln785Arg	Somatic	0	28	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP							pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.Q785R	ENST00000216268.5	37	c.2354	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	A	5.513	0.279699	0.10458	.	.	ENSG00000100426	ENST00000216268	T	0.21932	1.98	5.57	2.25	0.28309	Ribonuclease H-like (1);	0.194552	0.44688	N	0.000439	T	0.17280	0.0415	L	0.53729	1.69	0.40891	D	0.984078	B	0.06786	0.001	B	0.04013	0.001	T	0.11203	-1.0597	10	0.16896	T	0.51	-11.8791	8.75	0.34609	0.7752:0.0:0.2248:0.0	.	785	O75132	ZBED4_HUMAN	R	785	ENSP00000216268:Q785R	ENSP00000216268:Q785R	Q	+	2	0	ZBED4	48665668	1.000000	0.71417	0.526000	0.27913	0.706000	0.40770	3.786000	0.55431	0.078000	0.16900	0.533000	0.62120	CAG	-	superfamily_RNaseH-like_dom		0.642	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	protein_coding	OTTHUMT00000317408.2	A	NM_014838	-		50279664	1	no_errors	ENST00000216268	ensembl	human	known	74_37	missense	SNP	0.998	G	G	50279664	A	G	50279664	3	3	51	1	0	0	0	0	1	0	0	0	17527	188	7	5	2356	5	ZBED4	22	50279664	Missense_Mutation	SNP	A	TCGA-DX-A3UA-01A-12D-A307-09		50279664	1024902	44	2941											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766328	27766328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggcacagagctgctagCcagctacaatgatgacgata	11	10	0	3			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chrX:27766328C>T	ENST00000451261.2	+	5	1715	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	439								p.A406V(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GAGCTGCTAGCCAGCTACAAT	0.443																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000189186						156	105	120					X																	27766328		692	1591	2283	DCAF8L2	SO:0001583	missense	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1316C>T	X.37:g.27766328C>T	ENSP00000462745:p.Ala439Val	Somatic	0	44	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	B2RXH9|J3KT06	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A439V	ENST00000451261.2	37	c.1316	CCDS59162.1	X																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.443	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	C	XM_293354	-		27766328	1	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27766328	C	T	27766328	3	4	51	1	0	0	0	0	1	0	0	0	4280	739	26	2	1318	2	DCAF8L2	23	27766328	Missense_Mutation	SNP	C	TCGA-DX-A3UA-01A-12D-A307-09		27766328	127504232	45	2942											
FAM123B	139285	genome.wustl.edu	37	chrX	63410105	63410105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtaggtgtgagggacgaGctagttgaggcccagattcc	17	7	0	3			TCGA-DX-A3UA-01A-12D-A307-09	TCGA-DX-A3UA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a853679a-0be7-4f37-900c-f8f028f590aa	224f10b3-a507-435c-bc6c-3fdd6dfb5a46	g.chrX:63410105G>A	ENST00000330258.3	-	2	3334	c.3062C>T	c.(3061-3063)gCt>gTt	p.A1021V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1021	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TGAGGGACGAGCTAGTTGAGG	0.572																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)						ENSG00000184675						53	60	57					X																	63410105		2122	4215	6337	AMER1	SO:0001583	missense	0			-	HGNC	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3062C>T	X.37:g.63410105G>A	ENSP00000329117:p.Ala1021Val	Somatic	0	75	0		0.682772667104761				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	8	78.95	A2IB86|Q8N885	Missense_Mutation	SNP							pfam_Uncharacterised_FAM123	p.A1021V	ENST00000330258.3	37	c.3062	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751674	0.15778	.	.	ENSG00000184675	ENST00000330258	T	0.43688	0.94	4.93	3.16	0.36331	.	.	.	.	.	T	0.25382	0.0617	N	0.24115	0.695	0.54753	D	0.999987	B	0.12013	0.005	B	0.12837	0.008	T	0.05131	-1.0904	8	.	.	.	-1.2796	8.1759	0.31281	0.2017:0.0:0.7983:0.0	.	1021	Q5JTC6	F123B_HUMAN	V	1021	ENSP00000329117:A1021V	.	A	-	2	0	FAM123B	63326830	0.014000	0.17966	0.951000	0.38953	0.210000	0.24377	0.610000	0.24253	1.221000	0.43506	0.529000	0.55759	GCT	-	NULL		0.572	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	protein_coding	OTTHUMT00000316584.1	G	NM_152424	-		63410105	-1	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	SNP	0.852	A	A	63410105	G	A	63410105	3	1	51	1	0	0	0	0	1	0	0	0	5425	971	34	2	349	2	FAM123B	23	63410105	Missense_Mutation	SNP	G	TCGA-DX-A3UA-01A-12D-A307-09	35643777	63410105	91860455	46	2943											
ANP32E	81611	genome.wustl.edu	37	chr1	150199040	150199045	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-													cttcatcctcatcctcatccTcctcttcctcttcctcctcc					rs56692627|rs28594165|rs68136184|rs28460085	byFrequency	TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	TCCTCT	TCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr1:150199040_150199045delTCCTCT	ENST00000314136.8	-	5	945_950	c.576_581delAGAGGA	c.(574-582)gaagaggag>gag	p.192_194EEE>E	ANP32E_ENST00000369119.3_In_Frame_Del_p.144_146EEE>E|ANP32E_ENST00000533654.1_In_Frame_Del_p.KR137del|ANP32E_ENST00000369116.4_In_Frame_Del_p.60_62EEE>E|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_In_Frame_Del_p.60_62EEE>E|ANP32E_ENST00000436748.2_In_Frame_Del_p.151_153EEE>E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			atcctcatcctcctcttcctcttcct	0.437														1756	0.350639	0.1596	0.3559	5008	,	,		19419	0.5446		0.2753	False		,,,				2504	0.4826																0								ENSG00000143401		,,	627,3639		79,469,1585					,,	-6.5	0		dbSNP_130	261	1908,6340		294,1320,2510	no	coding,coding,coding	ANP32E	NM_030920.3,NM_001136479.1,NM_001136478.2	,,	373,1789,4095	A1A1,A1R,RR		23.1329,14.6976,20.2573	,,	,,		2535,9979				ANP32E	SO:0001651	inframe_deletion	0				HGNC	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576_581delAGAGGA	1.37:g.150199046_150199051delTCCTCT	ENSP00000324074:p.Glu192_Glu193del	Somatic					0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	In_Frame_Del	DEL							pfam_Leu-rich_rpt	p.EE193in_frame_del	ENST00000314136.8	37	c.581_576	CCDS946.1	1																																																																																			-	NULL		0.437	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32E	protein_coding	OTTHUMT00000035056.1	TCCTCT	NM_030920			150199045	-1	no_errors	ENST00000314136	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.006:0.000:0.058:0.106:0.091	-	-	150199045	TCCTCT	-	150199040	7	5	52	1	0	1	0	1	0	0	0	0	709	1551	54	0	237	0	ANP32E	1	150199040	In_Frame_Del	DEL	TCCTCT	TCGA-DX-A3UB-01A-11D-A307-09		150199040	99051581	1	2944											
OR2T8	343172	genome.wustl.edu	37	chr1	248084815	248084815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaccctgagcttcccaTattgcggtgcacacgagatc	9	13	0	2			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr1:248084815T>C	ENST00000319968.4	+	1	496	c.496T>C	c.(496-498)Tat>Cat	p.Y166H		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGCTTCCCATATTGCGGTGC	0.567																																																	0								ENSG00000177462						45	34	37					1																	248084815		2198	4273	6471	OR2T8	SO:0001583	missense	0			-	HGNC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.496T>C	1.37:g.248084815T>C	ENSP00000326225:p.Tyr166His	Somatic	0	8	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y166H	ENST00000319968.4	37	c.496	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983559	0.53827	.	.	ENSG00000177462	ENST00000319968	T	0.00099	8.73	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.516040	0.14172	U	0.336646	T	0.00468	0.0015	M	0.83223	2.63	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.44314	-0.9336	10	0.87932	D	0	.	11.2197	0.48846	0.0:0.0:0.0:1.0	.	166	A6NH00	OR2T8_HUMAN	H	166	ENSP00000326225:Y166H	ENSP00000326225:Y166H	Y	+	1	0	OR2T8	246151438	0.000000	0.05858	0.003000	0.11579	0.056000	0.15407	0.803000	0.27083	1.481000	0.48307	0.332000	0.21555	TAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.567	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	protein_coding	OTTHUMT00000096862.1	T	NM_001005522	-		248084815	1	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	SNP	0.124	C	C	248084815	T	C	248084815	3	2	52	1	0	0	0	0	1	0	0	0	11032	1406	49	5	498	5	OR2T8	1	248084815	Missense_Mutation	SNP	T	TCGA-DX-A3UB-01A-11D-A307-09	97885775	248084815	1165806	2	2945											
CCDC150	284992	genome.wustl.edu	37	chr2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-													agaactactggcccaggaacAaaaaaaaaaagaagagttgg					rs75642251|rs376590781		TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373																																																	0								ENSG00000144395			178,205,3109		1,0,176,1,203,1365	43	43	43			4.6	0.7	2		34	430,361,7013		2,0,426,2,357,3115	no	codingComplex	CCDC150	NM_001080539.1		3,0,602,3,560,4480	A1A1,A1A2,A1R,A2A2,A2R,RR		10.1358,10.9679,10.3931			197531519	608,566,10122	1807	4072	5879	CCDC150	SO:0001589	frameshift_variant	0				HGNC		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.839delA	2.37:g.197531519delA	ENSP00000373827:p.Gln280fs	Somatic	0	36	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	54	12.90	Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Del	DEL							NULL	p.K283fs	ENST00000389175.4	37	c.839	CCDS46478.1	2																																																																																			-	NULL		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	protein_coding	OTTHUMT00000335377.2	A	NM_001080539			197531519	1	no_errors	ENST00000389175	ensembl	human	known	74_37	frame_shift_del	DEL	0.374	-	-	197531519	A	-	197531519	7	5	52	1	0	1	0	1	0	0	0	0	2787	130	5	0	865	0	CCDC150	2	197531519	Frame_Shift_Del	DEL	A	TCGA-DX-A3UB-01A-11D-A307-09		197531519	45667854	3	2946											
RPL14	9045	genome.wustl.edu	37	chr3	40503520	40503521	+	In_Frame_Ins	INS	-	-	CTGCTGCTGCTGCTG													agcacctggtactaagggtaINSctgctgctgctgctgctgct					rs370958149|rs369485042|rs200018880|rs147295890|rs57354599|rs111899316	byFrequency	TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr3:40503520_40503521insCTGCTGCTGCTGCTG	ENST00000396203.2	+	6	577_578	c.445_446insCTGCTGCTGCTGCTG	c.(445-447)act>aCTGCTGCTGCTGCTGct	p.159_160insAAAAA	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_In_Frame_Ins_p.159_160insAAAAA	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	159			A -> AA.|A -> AAA.|A -> AAAA.|A -> AAAAA.|A -> AAAAAA. {ECO:0000269|PubMed:11875025, ECO:0000269|PubMed:9480843, ECO:0000269|Ref.5}.|A -> AAAAAAAA.|Missing. {ECO:0000269|PubMed:8549859, ECO:0000269|Ref.10}.		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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TACTAAGGGTActgctgctgct	0.47														948	0.189297	0.0855	0.2248	5008	,	,		14209	0.1548		0.3012	False		,,,				2504	0.2249																0								ENSG00000188846																																			RPL14	SO:0001652	inframe_insertion	0				HGNC	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.461_475dupCTGCTGCTGCTGCTG	3.37:g.40503520_40503521insCTGCTGCTGCTGCTG	ENSP00000379506:p.Ala155_Ala159dup	Somatic					0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	In_Frame_Ins	INS							pfam_Ribosomal_L14	p.153in_frame_insAAAAA	ENST00000396203.2	37	c.445_446	CCDS43070.1	3																																																																																			-	NULL		0.47	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL14	protein_coding	OTTHUMT00000342889.2	-	NM_003973			40503521	1	no_errors	ENST00000338970	ensembl	human	known	74_37	in_frame_ins	INS	0.019:0.022	CTGCTGCTGCTGCTG	CTGCTGCTGCTGCTG	40503521	-	CTGCTGCTGCTGCTG	40503520	7	5	52	1	0	1	1	0	0	0	0	0	13569	391	14	0	474	0	RPL14	3	40503520	In_Frame_Ins	INS	-	TCGA-DX-A3UB-01A-11D-A307-09		40503520	157518910	4	2947											
ISY1	57461	genome.wustl.edu	37	chr3	128864635	128864635	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacctcccagctcctttatcCggacctcccagtgtcctttc	6	18	0	0	rs368170673		TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr3:128864635C>G	ENST00000393295.3	-	6	586	c.269G>C	c.(268-270)cGg>cCg	p.R90P	ISY1_ENST00000273541.8_Missense_Mutation_p.R90P|ISY1_ENST00000393292.3_Missense_Mutation_p.R90P|ISY1_ENST00000471497.1_5'UTR|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.R90P	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	90					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CTCCTTTATCCGGACCTCCCA	0.478																																																	0								ENSG00000261796						117	119	118					3																	128864635		1961	4157	6118	ISY1-RAB43	SO:0001583	missense	0			-	HGNC		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 33"	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.269G>C	3.37:g.128864635C>G	ENSP00000376973:p.Arg90Pro	Somatic	0	48	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	73	15.12	Q96IL2|Q9BT05	Missense_Mutation	SNP							pfam_Isy1	p.R90P	ENST00000393295.3	37	c.269	CCDS43149.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414475	0.83449	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.37584	1.19	5.31	4.43	0.53597	.	0.054844	0.85682	D	0.000000	T	0.65760	0.2722	M	0.91510	3.215	0.80722	D	1	D;D;D	0.76494	0.995;0.976;0.999	D;P;D	0.77004	0.952;0.894;0.989	T	0.73180	-0.4064	10	0.87932	D	0	.	11.8615	0.52469	0.0:0.9147:0.0:0.0853	.	90;90;90	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	P	90;90;90;28;90	ENSP00000273541:R90P	ENSP00000273541:R90P	R	-	2	0	ISY1	130347325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.542000	0.67218	1.241000	0.43820	0.591000	0.81541	CGG	-	pfam_Isy1		0.478	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1-RAB43	protein_coding	OTTHUMT00000267856.1	C	NM_020701	-		128864635	-1	no_errors	ENST00000418265	ensembl	human	known	74_37	missense	SNP	1.000	G	G	128864635	C	G	128864635	3	3	52	1	0	0	0	0	1	0	0	0	7868	652	23	4	612	4	ISY1	3	128864635	Missense_Mutation	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09	88361115	128864635	69157795	5	2948											
CENPE	1062	genome.wustl.edu	37	chr4	104061060	104061060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaattcttatttcttcaagGctttcatgaagtttcttagt	5	7	5	1			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr4:104061060G>A	ENST00000265148.3	-	38	6179	c.6090C>T	c.(6088-6090)agC>agT	p.S2030S	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2030					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTCTTCAAGGCTTTCATGAA	0.363																																																	0								ENSG00000138778						146	139	141					4																	104061060		2203	4300	6503	CENPE	SO:0001819	synonymous_variant	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6090C>T	4.37:g.104061060G>A		Somatic	0	79	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	96	30.94	A6NKY9|A8K2U7|Q4LE75	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S2030	ENST00000265148.3	37	c.6090	CCDS34042.1	4																																																																																			-	NULL		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		G		-		104061060	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	silent	SNP	0.019	A	A	104061060	G	A	104061060	2	1	52	1	0	0	0	0	0	0	0	1	3232	1194	42	2		2	CENPE	4	104061060	Silent	SNP	G	TCGA-DX-A3UB-01A-11D-A307-09		104061060	87093216	6	2949											
NEUROG2	63973	genome.wustl.edu	37	chr4	113436358	113436358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggagacggcccgcgcccGggaagggcgccgtttgcaat	17	13	0	1			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr4:113436358G>A	ENST00000313341.3	-	2	600	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	92					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GCCCGCGCCCGGGAAGGGCGC	0.726																																																	0								ENSG00000178403						14	16	15					4																	113436358		2163	4236	6399	NEUROG2	SO:0001583	missense	0			-	HGNC	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.274C>T	4.37:g.113436358G>A	ENSP00000317333:p.Arg92Trp	Somatic	0	33	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	43	35.82	Q8N416	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R92W	ENST00000313341.3	37	c.274	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292469	0.23564	.	.	ENSG00000178403	ENST00000313341	D	0.92048	-2.96	3.5	1.64	0.23874	.	0.177647	0.26560	U	0.023694	D	0.90872	0.7132	N	0.24115	0.695	0.47698	D	0.999499	D	0.89917	1.0	D	0.67231	0.95	D	0.88760	0.3256	10	0.72032	D	0.01	-10.2651	9.3501	0.38133	0.0:0.0:0.5039:0.4961	.	92	Q9H2A3	NGN2_HUMAN	W	92	ENSP00000317333:R92W	ENSP00000317333:R92W	R	-	1	2	NEUROG2	113655807	0.985000	0.35326	0.018000	0.16275	0.023000	0.10783	3.720000	0.54933	0.144000	0.18951	0.313000	0.20887	CGG	-	NULL		0.726	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	protein_coding	OTTHUMT00000256414.1	G	NM_024019	-		113436358	-1	no_errors	ENST00000313341	ensembl	human	known	74_37	missense	SNP	0.709	A	A	113436358	G	A	113436358	3	1	52	1	0	0	0	0	1	0	0	0	10355	1115	39	1	548	1	NEUROG2	4	113436358	Missense_Mutation	SNP	G	TCGA-DX-A3UB-01A-11D-A307-09	9375298	113436358	77717918	7	2950											
ZDHHC11	79844	genome.wustl.edu	37	chr5	833915	833915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgagcccagggcgccaGctccttgctgtggggcaaaa	14	12	0	2	rs605088	byFrequency	TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr5:833915G>T	ENST00000283441.8	-	7	1291	c.908C>A	c.(907-909)gCt>gAt	p.A303D	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.A303D|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	303						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A303D(10)		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)			CAGGGCGCCAGCTCCTTGCTG	0.438																																																	10	Substitution - Missense(10)	prostate(8)|liver(2)						ENSG00000188818						8	8	8					5																	833915		2154	4191	6345	ZDHHC11	SO:0001583	missense	0			-	HGNC	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.908C>A	5.37:g.833915G>T	ENSP00000283441:p.Ala303Asp	Somatic	0	33	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	Q6UWR9	Missense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.A303D	ENST00000283441.8	37	c.908	CCDS3857.1	5	515	0.2358058608058608	134	0.27235772357723576	83	0.2292817679558011	145	0.2534965034965035	153	0.20184696569920843	t	0.056	-1.237364	0.01493	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.32023	1.47;1.47	1.32	-2.64	0.06114	.	159.412000	0.01375	U	0.012736	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	9	0.30854	T	0.27	.	0.5085	0.00591	0.2028:0.3259:0.2042:0.267	rs605088;rs4045358;rs59272565	303	Q9H8X9	ZDH11_HUMAN	D	303	ENSP00000397719:A303D;ENSP00000283441:A303D	ENSP00000283441:A303D	A	-	2	0	ZDHHC11	886915	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.877000	0.00717	-2.317000	0.00644	-1.448000	0.01049	GCT	-	NULL		0.438	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	protein_coding	OTTHUMT00000206681.3	G	NM_024786	rs605088		833915	-1	no_errors	ENST00000283441	ensembl	human	known	74_37	missense	SNP	0.000	T	T	833915	G	T	833915	3	4	52	1	0	0	0	0	1	0	0	0	17608	971	34	3	354	3	ZDHHC11	5	833915	Missense_Mutation	SNP	G	TCGA-DX-A3UB-01A-11D-A307-09		833915	180081345	8	2951											
ZNF76	7629	genome.wustl.edu	37	chr6	35255451	35255451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagcaccctggaagcCgtccaactggaagatggctc	11	15	0	1	rs376706823		TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr6:35255451C>T	ENST00000373953.3	+	5	527	c.261C>T	c.(259-261)gcC>gcT	p.A87A	ZNF76_ENST00000339411.5_Silent_p.A87A|ZNF76_ENST00000440666.2_Silent_p.A61A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	87	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCTGGAAGCCGTCCAACTGG	0.587																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0								ENSG00000065029	C		0,4406		0,0,2203	98	87	91		261	-4.9	0.9	6		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF76	NM_003427.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		87/571	35255451	1,13005	2203	4300	6503	ZNF76	SO:0001819	synonymous_variant	0			-	HGNC	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.261C>T	6.37:g.35255451C>T		Somatic	0	13	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	Q9BQB2	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A87	ENST00000373953.3	37	c.261	CCDS4801.1	6																																																																																			-	NULL		0.587	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	protein_coding	OTTHUMT00000040279.2	C	NM_003427	-		35255451	1	no_errors	ENST00000373953	ensembl	human	known	74_37	silent	SNP	0.896	T	T	35255451	C	T	35255451	2	4	52	1	0	0	0	0	0	0	0	1	18142	639	23	1		1	ZNF76	6	35255451	Silent	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09		35255451	135859616	9	2952											
PIM1	5292	genome.wustl.edu	37	chr6	37139016	37139025	+	Frame_Shift_Del	DEL	TCCTGGAGAG	TCCTGGAGAG	-													gcccgacagtttcgtcctgaTcctggagaggcccgagccgg							TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	TCCTGGAGAG	TCCTGGAGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr6:37139016_37139025delTCCTGGAGAG	ENST00000373509.5	+	4	729_738	c.356_365delTCCTGGAGAG	c.(355-366)atcctggagaggfs	p.ILER119fs		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	210					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTCGTCCTGATCCTGGAGAGGCCCGAGCCG	0.614			T	BCL6	NHL																																			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0								ENSG00000137193																																			PIM1	SO:0001589	frameshift_variant	0				HGNC		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"pim-1 oncogene"	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.356_365delTCCTGGAGAG	6.37:g.37139016_37139025delTCCTGGAGAG	ENSP00000362608:p.Ile119fs	Somatic					0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q38RT9|Q5T7H7|Q96RG3	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I119fs	ENST00000373509.5	37	c.356_365	CCDS4830.1	6																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.614	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM1	protein_coding	OTTHUMT00000043903.1	TCCTGGAGAG				37139025	1	no_errors	ENST00000373509	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.944:1.000	-	-	37139025	TCCTGGAGAG	-	37139016	7	5	52	1	0	1	0	1	0	0	0	0	11929	1435	50	0	370	0	PIM1	6	37139016	Frame_Shift_Del	DEL	TCCTGGAGAG	TCGA-DX-A3UB-01A-11D-A307-09	1883565	37139016	133976051	10	2953											
ESRP1	54845	genome.wustl.edu	37	chr8	95658450	95658450	+	Frame_Shift_Del	DEL	A	A	-													ttgatcttcgaaaagaattcAagaaatgttgccctggttca							TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr8:95658450delA	ENST00000433389.2	+	4	620	c.430delA	c.(430-432)aagfs	p.K145fs	ESRP1_ENST00000358397.5_Frame_Shift_Del_p.K145fs|ESRP1_ENST00000454170.2_Frame_Shift_Del_p.K145fs|ESRP1_ENST00000423620.2_Frame_Shift_Del_p.K145fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	145					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAAAGAATTCAAGAAATGTTG	0.353																																																	0								ENSG00000104413						159	150	153					8																	95658450		1869	4096	5965	ESRP1	SO:0001589	frameshift_variant	0				HGNC	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.430delA	8.37:g.95658450delA	ENSP00000405738:p.Lys145fs	Somatic	0	71	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	53	43.62	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Del	DEL							superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.K144fs	ENST00000433389.2	37	c.430	CCDS47897.1	8																																																																																			-	superfamily_RNaseH-like_dom		0.353	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	protein_coding	OTTHUMT00000379326.1	A	NM_017697			95658450	1	no_errors	ENST00000433389	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	95658450	A	-	95658450	7	5	52	1	0	1	0	1	0	0	0	0	5260	131	5	0	444	0	ESRP1	8	95658450	Frame_Shift_Del	DEL	A	TCGA-DX-A3UB-01A-11D-A307-09		95658450	50705572	11	2954											
C9orf71	169693	genome.wustl.edu	37	chr9	71155617	71155617	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaataggccgcaatcaggctCccctgacagtcgaatatgga	10	11	1	1			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr9:71155617C>A	ENST00000377311.3	-	1	166	c.114G>T	c.(112-114)ggG>ggT	p.G38G	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	38						integral component of membrane (GO:0016021)											CAATCAGGCTCCCCTGACAGT	0.537																																																	0								ENSG00000181778						64	61	62					9																	71155617		2203	4300	6503	TMEM252	SO:0001819	synonymous_variant	0			-	HGNC	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 71"	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.114G>T	9.37:g.71155617C>A		Somatic	0	23	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03		Silent	SNP							NULL	p.G38	ENST00000377311.3	37	c.114	CCDS35040.1	9																																																																																			-	NULL		0.537	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	protein_coding	OTTHUMT00000052551.1	C	NM_153237	-		71155617	-1	no_errors	ENST00000377311	ensembl	human	known	74_37	silent	SNP	0.000	A	A	71155617	C	A	71155617	2	1	52	1	0	0	0	0	0	0	0	1	2496	842	30	3		3	C9orf71	9	71155617	Silent	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09		71155617	70057814	12	2955											
GABBR2	9568	genome.wustl.edu	37	chr9	101304191	101304191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcttgcgtcagcgtgccCacgcgcttccactggtagtg	12	14	2	0			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr9:101304191C>T	ENST00000259455.2	-	3	1053	c.594G>A	c.(592-594)gtG>gtA	p.V198V	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	198					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCAGCGTGCCCACGCGCTTCC	0.517																																																	0								ENSG00000136928						156	112	127					9																	101304191		2203	4300	6503	GABBR2	SO:0001819	synonymous_variant	0			-	HGNC	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.594G>A	9.37:g.101304191C>T		Somatic	0	28	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP							pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.V198	ENST00000259455.2	37	c.594	CCDS6736.1	9																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.517	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	protein_coding	OTTHUMT00000053373.1	C		-		101304191	-1	no_errors	ENST00000259455	ensembl	human	known	74_37	silent	SNP	1.000	T	T	101304191	C	T	101304191	2	4	52	1	0	0	0	0	0	0	0	1	6158	581	21	2		2	GABBR2	9	101304191	Silent	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09	30148574	101304191	39909240	13	2956											
STARD13	90627	genome.wustl.edu	37	chr13	33684840	33684840	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctttttgaaagcaagatCtgtattgtccgtgctggagc	10	8	1	2	rs368225953		TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr13:33684840C>T	ENST00000336934.5	-	11	2928	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	STARD13_ENST00000399365.3_Missense_Mutation_p.D820N|STARD13_ENST00000255486.4_Missense_Mutation_p.D930N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	938	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AAAGCAAGATCTGTATTGTCC	0.448																																																	0								ENSG00000133121	C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	156	146	149		2788,2812,2458	5.5	0.9	13		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	STARD13	NM_178007.2,NM_178006.3,NM_052851.2	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	930/1106,938/1114,820/996	33684840	1,13005	2203	4300	6503	STARD13	SO:0001583	missense	0			-	HGNC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2812G>A	13.37:g.33684840C>T	ENSP00000338785:p.Asp938Asn	Somatic	0	31	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.D938N	ENST00000336934.5	37	c.2812	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216430	0.79352	0.0	1.16E-4	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.80480	-1.38;-1.38;-1.38	5.49	5.49	0.81192	Lipid-binding START (3);START-like domain (1);	0.290468	0.42420	D	0.000701	T	0.80292	0.4596	L	0.41573	1.285	0.80722	D	1	P;B;B	0.34757	0.467;0.168;0.01	B;B;B	0.41202	0.302;0.35;0.04	T	0.80946	-0.1155	10	0.87932	D	0	.	19.7343	0.96195	0.0:1.0:0.0:0.0	.	903;938;930	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	N	820;930;938	ENSP00000382300:D820N;ENSP00000255486:D930N;ENSP00000338785:D938N	ENSP00000255486:D930N	D	-	1	0	STARD13	32582840	1.000000	0.71417	0.862000	0.33874	0.910000	0.53928	7.681000	0.84073	2.728000	0.93425	0.561000	0.74099	GAT	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.448	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	protein_coding	OTTHUMT00000276118.2	C	NM_001243466	-		33684840	-1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33684840	C	T	33684840	3	4	52	1	0	0	0	0	1	0	0	0	15263	913	32	2	545	2	STARD13	13	33684840	Missense_Mutation	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09		33684840	81485038	14	2957											
KIAA0564	23078	genome.wustl.edu	37	chr13	42273392	42273392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtaactacatagagagTattttgctcattttctgaaa	7	6	2	2			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr13:42273392T>C	ENST00000379310.3	-	29	3447	c.3379A>G	c.(3379-3381)Act>Gct	p.T1127A		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1127						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACATAGAGAGTATTTTGCTCA	0.373																																																	0								ENSG00000102763						77	74	75					13																	42273392		1841	4090	5931	VWA8	SO:0001583	missense	0			-	HGNC	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3379A>G	13.37:g.42273392T>C	ENSP00000368612:p.Thr1127Ala	Somatic	0	21	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.T1127A	ENST00000379310.3	37	c.3379	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	0.061	-1.224201	0.01530	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09538	2.97	5.5	3.09	0.35607	.	0.471642	0.22627	N	0.057627	T	0.08179	0.0204	L	0.50333	1.59	0.26384	N	0.97669	B	0.02656	0.0	B	0.01281	0.0	T	0.41161	-0.9524	10	0.11182	T	0.66	.	4.4746	0.11729	0.1355:0.234:0.0:0.6304	.	1127	A3KMH1	K0564_HUMAN	A	1031;1127	ENSP00000368612:T1127A	ENSP00000251030:T1031A	T	-	1	0	KIAA0564	41171392	0.003000	0.15002	0.123000	0.21794	0.062000	0.15995	0.123000	0.15708	0.484000	0.27630	0.477000	0.44152	ACT	-	NULL		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	T	NM_015058	-		42273392	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	SNP	0.418	C	C	42273392	T	C	42273392	3	2	52	1	0	0	0	0	1	0	0	0	8187	1638	57	5	2406	5	KIAA0564	13	42273392	Missense_Mutation	SNP	T	TCGA-DX-A3UB-01A-11D-A307-09	8588552	42273392	72896486	15	2958											
RGMA	56963	genome.wustl.edu	37	chr15	93595319	93595319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcggccaggcgccctgCaccttgcaggtctggaagcg	15	13	1	1			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr15:93595319C>T	ENST00000329082.7	-	3	820	c.549G>A	c.(547-549)gtG>gtA	p.V183V	RGMA_ENST00000556087.1_Silent_p.V167V|RGMA_ENST00000538818.1_Silent_p.V74V|RGMA_ENST00000542321.2_Silent_p.V167V|RGMA_ENST00000543599.1_Silent_p.V167V|RGMA_ENST00000556658.1_Silent_p.V74V|RGMA_ENST00000425933.2_Silent_p.V167V|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.V191V	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	183					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGGCGCCCTGCACCTTGCAGG	0.617																																																	0								ENSG00000182175						46	56	52					15																	93595319		2073	4193	6266	RGMA	SO:0001819	synonymous_variant	0			-	HGNC	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.549G>A	15.37:g.93595319C>T		Somatic	0	28	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP							pfam_RGM_N,pfam_RGM_C	p.V183	ENST00000329082.7	37	c.549	CCDS45357.1	15																																																																																			-	pfam_RGM_N		0.617	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	protein_coding	OTTHUMT00000415091.1	C	NM_020211	-		93595319	-1	no_errors	ENST00000329082	ensembl	human	known	74_37	silent	SNP	1.000	T	T	93595319	C	T	93595319	2	4	52	1	0	0	0	0	0	0	0	1	13288	697	25	2		2	RGMA	15	93595319	Silent	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09		93595319	8936073	16	2959											
MYH1	4619	genome.wustl.edu	37	chr17	10404621	10404621	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagggtggcctcctccaGgtccctgcgcattttctgga	12	13	1	0			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr17:10404621G>T	ENST00000226207.5	-	27	3638	c.3544C>A	c.(3544-3546)Ctg>Atg	p.L1182M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1182					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCCTCCAGGTCCCTGCGC	0.597																																																	0								ENSG00000109061						84	89	88					17																	10404621		2203	4300	6503	MYH1	SO:0001583	missense	0			-	HGNC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3544C>A	17.37:g.10404621G>T	ENSP00000226207:p.Leu1182Met	Somatic	0	65	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	97	36.18	Q14CA4|Q9Y622	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1182M	ENST00000226207.5	37	c.3544	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783963	0.90282	.	.	ENSG00000109061	ENST00000226207	D	0.90844	-2.74	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.35525	U	0.003154	D	0.95758	0.8620	M	0.90542	3.125	0.80722	D	1	D	0.55385	0.971	P	0.59546	0.859	D	0.95149	0.8271	10	0.44086	T	0.13	.	19.7865	0.96442	0.0:0.0:1.0:0.0	.	1182	P12882	MYH1_HUMAN	M	1182	ENSP00000226207:L1182M	ENSP00000226207:L1182M	L	-	1	2	MYH1	10345346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.572000	0.74005	2.751000	0.94390	0.650000	0.86243	CTG	-	pfam_Myosin_tail		0.597	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	G	NM_005963	-		10404621	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10404621	G	T	10404621	3	4	52	1	0	0	0	0	1	0	0	0	10031	991	35	3	2331	3	MYH1	17	10404621	Missense_Mutation	SNP	G	TCGA-DX-A3UB-01A-11D-A307-09		10404621	70790589	17	2960											
SMCR7	125170	genome.wustl.edu	37	chr17	18167708	18167708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggaacctctggctgcAggacctgtatccagtggagg	17	10	1	0			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr17:18167708A>G	ENST00000323019.4	+	4	1206	c.995A>G	c.(994-996)cAg>cGg	p.Q332R	MIEF2_ENST00000395706.2_Missense_Mutation_p.Q343R|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	332					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTCTGGCTGCAGGACCTGTAT	0.677																																																	0								ENSG00000177427						41	48	46					17																	18167708		2202	4297	6499	MIEF2	SO:0001583	missense	0			-	HGNC	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.995A>G	17.37:g.18167708A>G	ENSP00000323591:p.Gln332Arg	Somatic	0	19	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP							NULL	p.Q332R	ENST00000323019.4	37	c.995	CCDS11193.1	17	.	.	.	.	.	.	.	.	.	.	A	7.159	0.585239	0.13749	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.08193	3.12;3.12	5.45	5.45	0.79879	.	0.177118	0.49916	D	0.000121	T	0.17195	0.0413	L	0.52759	1.655	0.48087	D	0.999582	D	0.54772	0.968	P	0.52909	0.713	T	0.00398	-1.1764	10	0.48119	T	0.1	-27.4493	15.5101	0.75772	1.0:0.0:0.0:0.0	.	332	Q96C03	MID49_HUMAN	R	332;343	ENSP00000323591:Q332R;ENSP00000379057:Q343R	ENSP00000323591:Q332R	Q	+	2	0	SMCR7	18108433	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	3.394000	0.52551	2.073000	0.62155	0.379000	0.24179	CAG	-	NULL		0.677	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF2	protein_coding	OTTHUMT00000132060.2	A	NM_139162	-		18167708	1	no_errors	ENST00000323019	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18167708	A	G	18167708	3	3	52	1	0	0	0	0	1	0	0	0	14798	188	7	5	1042	5	SMCR7	17	18167708	Missense_Mutation	SNP	A	TCGA-DX-A3UB-01A-11D-A307-09	7763087	18167708	63027502	18	2961											
FASN	2194	genome.wustl.edu	37	chr17	80038035	80038035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgttgtgctccatgtccGtgaactgctgcacgaagaag	11	12	0	2			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr17:80038035G>A	ENST00000306749.2	-	41	7345	c.7127C>T	c.(7126-7128)aCg>aTg	p.T2376M	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2376	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCCATGTCCGTGAACTGCTG	0.622																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						130	114	120					17																	80038035		2203	4299	6502	FASN	SO:0001583	missense	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7127C>T	17.37:g.80038035G>A	ENSP00000304592:p.Thr2376Met	Somatic	0	25	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP							pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.T2376M	ENST00000306749.2	37	c.7127	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739439	0.30774	.	.	ENSG00000169710	ENST00000306749	T	0.26810	1.71	4.68	0.737	0.18314	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.190337	0.44483	N	0.000442	T	0.22166	0.0534	L	0.50333	1.59	0.43637	D	0.99603	P	0.48589	0.912	B	0.43052	0.406	T	0.02138	-1.1207	10	0.39692	T	0.17	-7.312	8.6943	0.34287	0.3077:0.0:0.6923:0.0	.	2376	P49327	FAS_HUMAN	M	2376	ENSP00000304592:T2376M	ENSP00000304592:T2376M	T	-	2	0	FASN	77631324	0.950000	0.32346	0.163000	0.22734	0.312000	0.27988	1.503000	0.35715	0.013000	0.14918	0.591000	0.81541	ACG	-	pfam_Thioesterase		0.622	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	G	NM_004104	-		80038035	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	SNP	0.881	A	A	80038035	G	A	80038035	3	1	52	1	0	0	0	0	1	0	0	0	5685	1145	40	1	420	1	FASN	17	80038035	Missense_Mutation	SNP	G	TCGA-DX-A3UB-01A-11D-A307-09	61870327	80038035	1157175	19	2962											
CABLES1	91768	genome.wustl.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-													agggcggcgcggccaagccgGgcgccggcggcgcctgcggc					rs201595073|rs139352344	byFrequency	TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	GGCGCCGGC	GGCGCCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137																0								ENSG00000134508																																			CABLES1	SO:0001651	inframe_deletion	0				HGNC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del	Somatic					0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL							pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.GGA99in_frame_del	ENST00000256925.7	37	c.289_297	CCDS42417.1	18																																																																																			-	pirsf_Cdk5/c-Abl_linker_Cables		0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	protein_coding	OTTHUMT00000445198.2	GGCGCCGGC	NM_138375			20716023	1	no_errors	ENST00000256925	ensembl	human	known	74_37	in_frame_del	DEL	0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997	-	-	20716023	GGCGCCGGC	-	20716015	7	5	52	1	0	1	0	1	0	0	0	0	2531	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-DX-A3UB-01A-11D-A307-09		20716015	57361233	20	2963											
AZU1	566	genome.wustl.edu	37	chr19	831755	831755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtctgcgagggcctggccCacggcgtggcctccttttcc	13	16	1	0			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr19:831755C>T	ENST00000233997.2	+	5	655	c.634C>T	c.(634-636)Cac>Tac	p.H212Y		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		GGGCCTGGCCCACGGCGTGGC	0.692																																																	0								ENSG00000172232						17	20	19					19																	831755		2197	4291	6488	AZU1	SO:0001583	missense	0			-	HGNC	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.634C>T	19.37:g.831755C>T	ENSP00000233997:p.His212Tyr	Somatic	0	38	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	67	24.72	P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.H212Y	ENST00000233997.2	37	c.634	CCDS12044.1	19	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786812	0.31593	.	.	ENSG00000172232	ENST00000233997	D	0.88431	-2.38	1.87	-0.307	0.12777	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.78483	0.4290	N	0.13043	0.29	0.09310	N	1	D	0.58620	0.983	P	0.46110	0.504	T	0.69636	-0.5092	9	0.52906	T	0.07	.	3.909	0.09194	0.0:0.5796:0.0:0.4204	.	212	P20160	CAP7_HUMAN	Y	212	ENSP00000233997:H212Y	ENSP00000233997:H212Y	H	+	1	0	AZU1	782755	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.236000	0.17967	-0.021000	0.14009	0.561000	0.74099	CAC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.692	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZU1	protein_coding	OTTHUMT00000457472.2	C	NM_001700	-		831755	1	no_errors	ENST00000233997	ensembl	human	known	74_37	missense	SNP	0.000	T	T	831755	C	T	831755	3	4	52	1	0	0	0	0	1	0	0	0	1243	594	21	2	652	2	AZU1	19	831755	Missense_Mutation	SNP	C	TCGA-DX-A3UB-01A-11D-A307-09		831755	58297228	21	2964											
OTOR	56914	genome.wustl.edu	37	chr20	16729574	16729574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactgtagattcattaacGttaaaaaagggcagcagatc	10	7	1	2			TCGA-DX-A3UB-01A-11D-A307-09	TCGA-DX-A3UB-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66b644e8-b86a-4f11-8e3f-63a9d913f618	db5413dc-7f80-4fbc-a345-6a5d8ed16ad0	g.chr20:16729574G>T	ENST00000246081.2	+	2	222	c.178G>T	c.(178-180)Gtt>Ttt	p.V60F		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	60	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						ATTCATTAACGTTAAAAAAGG	0.353																																																	0								ENSG00000125879						76	79	78					20																	16729574		2203	4300	6503	OTOR	SO:0001583	missense	0			-	HGNC	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.178G>T	20.37:g.16729574G>T	ENSP00000246081:p.Val60Phe	Somatic	0	32	0		0.562015774040586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	D3DW22|Q3MIU6	Missense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.V60F	ENST00000246081.2	37	c.178	CCDS13124.1	20	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238970	0.22711	.	.	ENSG00000125879	ENST00000246081	T	0.09255	3.0	5.93	-1.59	0.08453	Src homology-3 domain (2);Variant SH3 (1);	0.225856	0.43747	N	0.000537	T	0.03178	0.0093	N	0.08118	0	0.23962	N	0.99633	B	0.14438	0.01	B	0.15052	0.012	T	0.40813	-0.9543	10	0.08381	T	0.77	-39.7388	3.2565	0.06834	0.457:0.0:0.2209:0.3221	.	60	Q9NRC9	OTOR_HUMAN	F	60	ENSP00000246081:V60F	ENSP00000246081:V60F	V	+	1	0	OTOR	16677574	0.161000	0.22892	0.005000	0.12908	0.850000	0.48378	0.203000	0.17315	-0.102000	0.12197	0.655000	0.94253	GTT	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.353	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	protein_coding	OTTHUMT00000078108.2	G		-		16729574	1	no_errors	ENST00000246081	ensembl	human	known	74_37	missense	SNP	0.141	T	T	16729574	G	T	16729574	3	4	52	1	0	0	0	0	1	0	0	0	11310	1145	40	3	184	3	OTOR	20	16729574	Missense_Mutation	SNP	G	TCGA-DX-A3UB-01A-11D-A307-09		16729574	46295946	22	2965											
ZNF644	84146	genome.wustl.edu	37	chr1	91406009	91406009	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaatcctcggtataacgaGttatcttgcttacatccatt	6	10	1	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr1:91406009G>C	ENST00000370440.1	-	3	1119	c.902C>G	c.(901-903)aCt>aGt	p.T301S	ZNF644_ENST00000337393.5_Missense_Mutation_p.T301S|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	301					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGTATAACGAGTTATCTTGCT	0.328																																																	0								ENSG00000122482						91	88	89					1																	91406009		2203	4299	6502	ZNF644	SO:0001583	missense	0			-	HGNC	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.902C>G	1.37:g.91406009G>C	ENSP00000359469:p.Thr301Ser	Somatic	0	25	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	22	56.86	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T301S	ENST00000370440.1	37	c.902	CCDS731.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.770608|1.770608	0.31320|0.31320	.|.	.|.	ENSG00000122482|ENSG00000122482	ENST00000541557|ENST00000370440;ENST00000337393	.|T;T	.|0.00591	.|6.35;6.35	5.58|5.58	4.66|4.66	0.58398|0.58398	.|.	.|0.164580	.|0.56097	.|D	.|0.000039	T|T	0.00271|0.00271	0.0008|0.0008	L|L	0.29908|0.29908	0.895|0.895	0.42862|0.42862	D|D	0.994115|0.994115	.|P	.|0.34800	.|0.469	.|B	.|0.32211	.|0.142	T|T	0.79072|0.79072	-0.1953|-0.1953	6|10	0.87932|0.27785	D|T	0|0.31	-11.9515|-11.9515	14.7234|14.7234	0.69326|0.69326	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|301	.|Q9H582	.|ZN644_HUMAN	K|S	300|301	.|ENSP00000359469:T301S;ENSP00000337008:T301S	ENSP00000442287:N300K|ENSP00000337008:T301S	N|T	-|-	3|2	2|0	ZNF644|ZNF644	91178597|91178597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.987000|3.987000	0.56944|0.56944	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	AAC|ACT	-	NULL		0.328	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	protein_coding	OTTHUMT00000027846.2	G	NM_032186	-		91406009	-1	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	SNP	1.000	C	C	91406009	G	C	91406009	3	2	53	1	0	0	0	0	1	0	0	0	18067	1029	36	4	3097	4	ZNF644	1	91406009	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		91406009	157844612	1	2966											
CCDC76	54482	genome.wustl.edu	37	chr1	100598848	100598848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggaaaagattttgtGgtgaacacgctggagccgcg	15	9	0	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr1:100598848G>T	ENST00000370141.2	+	1	130	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C	TRMT13_ENST00000370139.1_Missense_Mutation_p.G11C|SASS6_ENST00000287482.5_5'Flank|SASS6_ENST00000535161.1_5'Flank|SASS6_ENST00000462159.1_5'Flank|TRMT13_ENST00000370143.1_Missense_Mutation_p.G42C	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	42					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AAGATTTTGTGGTGAACACGC	0.567																																																	0								ENSG00000122435						72	69	70					1																	100598848		2203	4300	6503	TRMT13	SO:0001583	missense	0			-	HGNC	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.124G>T	1.37:g.100598848G>T	ENSP00000359160:p.Gly42Cys	Somatic	0	24	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q5VVL0|Q9NW65	Missense_Mutation	SNP							pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.G42C	ENST00000370141.2	37	c.124	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571612	0.86542	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	T;T;T	0.58506	0.7;0.59;0.33	4.99	4.99	0.66335	Zinc finger, CCCH-type, TRM13 (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77981	-0.2383	10	0.48119	T	0.1	-13.6717	18.0698	0.89403	0.0:0.0:1.0:0.0	.	42;42	B4DQS9;Q9NUP7	.;TRM13_HUMAN	C	42;42;11	ENSP00000359162:G42C;ENSP00000359160:G42C;ENSP00000359158:G11C	ENSP00000359158:G11C	G	+	1	0	CCDC76	100371436	1.000000	0.71417	0.981000	0.43875	0.733000	0.41908	5.967000	0.70403	2.588000	0.87417	0.650000	0.86243	GGT	-	pfam_Znf_CCCH-type_TRM13		0.567	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	protein_coding	OTTHUMT00000029919.1	G	NM_019083	-		100598848	1	no_errors	ENST00000370141	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100598848	G	T	100598848	3	4	53	1	0	0	0	0	1	0	0	0	2852	1348	47	3	126	3	CCDC76	1	100598848	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	9192839	100598848	148651773	2	2967											
ETV3L	440695	genome.wustl.edu	37	chr1	157062675	157062675	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaagagaggaagcccTggaaaatgccaggcccctgg	13	13	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr1:157062675T>C	ENST00000454449.2	-	5	1136	c.852A>G	c.(850-852)ccA>ccG	p.P284P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	284	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GAGGAAGCCCTGGAAAATGCC	0.627																																																	0								ENSG00000253831						28	31	30					1																	157062675		2203	4300	6503	ETV3L	SO:0001819	synonymous_variant	0			-	HGNC	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.852A>G	1.37:g.157062675T>C		Somatic	0	25	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78		Silent	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P284	ENST00000454449.2	37	c.852	CCDS30893.1	1																																																																																			-	NULL		0.627	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	protein_coding	OTTHUMT00000099024.2	T	NM_001004341	-		157062675	-1	no_errors	ENST00000454449	ensembl	human	known	74_37	silent	SNP	0.003	C	C	157062675	T	C	157062675	2	2	53	1	0	0	0	0	0	0	0	1	5282	1567	55	5		5	ETV3L	1	157062675	Silent	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09	56463827	157062675	92187946	3	2968											
KIAA1804	84451	genome.wustl.edu	37	chr1	233518139	233518139	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcatctgccaagggaggtCtcacccaagaagcacagcac	10	13	3	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr1:233518139C>T	ENST00000366624.3	+	10	3054	c.2793C>T	c.(2791-2793)gtC>gtT	p.V931V	MLK4_ENST00000366622.1_Silent_p.V377V	NM_032435.2	NP_115811.2																					CAAGGGAGGTCTCACCCAAGA	0.587																																																	0								ENSG00000143674						104	92	96					1																	233518139		2203	4300	6503	MLK4	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000366624.3:c.2793C>T	1.37:g.233518139C>T		Somatic	0	23	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42		Silent	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.V931	ENST00000366624.3	37	c.2793	CCDS1598.1	1																																																																																			-	pirsf_MAPKKK9/10/11		0.587	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	protein_coding	OTTHUMT00000092495.1	C		-		233518139	1	no_errors	ENST00000366624	ensembl	human	known	74_37	silent	SNP	0.033	T	T	233518139	C	T	233518139	2	4	53	1	0	0	0	0	0	0	0	1	8261	900	32	2		2	KIAA1804	1	233518139	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	76455464	233518139	15732482	4	2969											
EFEMP1	2202	genome.wustl.edu	37	chr2	56108783	56108783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttctgatatccaggagGgcactgacatgcaaaggatc	11	10	1	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr2:56108783G>T	ENST00000394555.2	-	5	1039	c.604C>A	c.(604-606)Cct>Act	p.P202T	EFEMP1_ENST00000355426.3_Missense_Mutation_p.P202T|EFEMP1_ENST00000424836.2_Missense_Mutation_p.P144T|EFEMP1_ENST00000394554.1_Missense_Mutation_p.P202T	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	202	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATCCAGGAGGGCACTGACAT	0.517																																					GBM(92;934 1319 7714 28760 40110)												0								ENSG00000115380						240	177	198					2																	56108783		2203	4300	6503	EFEMP1	SO:0001583	missense	0			-	HGNC	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.604C>A	2.37:g.56108783G>T	ENSP00000378058:p.Pro202Thr	Somatic	0	63	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P202T	ENST00000394555.2	37	c.604	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	G	4.643	0.119623	0.08881	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.9	5.9	0.94986	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.308277	0.28011	N	0.016958	D	0.89097	0.6618	L	0.49699	1.58	0.26777	N	0.969689	B;B	0.22983	0.008;0.078	B;B	0.26969	0.001;0.075	T	0.76397	-0.2974	10	0.17369	T	0.5	.	14.4259	0.67215	0.0701:0.0:0.9299:0.0	.	144;202	B4DW75;Q12805	.;FBLN3_HUMAN	T	202;202;58;144;202	ENSP00000378058:P202T;ENSP00000378057:P202T;ENSP00000399145:P144T;ENSP00000347596:P202T	ENSP00000347596:P202T	P	-	1	0	EFEMP1	55962287	1.000000	0.71417	0.924000	0.36721	0.059000	0.15707	5.106000	0.64597	2.790000	0.95986	0.650000	0.86243	CCT	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.517	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	protein_coding	OTTHUMT00000251491.2	G		-		56108783	-1	no_errors	ENST00000355426	ensembl	human	known	74_37	missense	SNP	0.987	T	T	56108783	G	T	56108783	3	4	53	1	0	0	0	0	1	0	0	0	4943	1232	43	3	905	3	EFEMP1	2	56108783	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		56108783	187090590	5	2970											
PROKR1	10887	genome.wustl.edu	37	chr2	68873136	68873136	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggacgttctttgctgcCaagattgtcattgggatggc	12	9	2	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr2:68873136C>A	ENST00000303786.3	+	2	603	c.183C>A	c.(181-183)gcC>gcA	p.A61A	PROKR1_ENST00000394342.2_Silent_p.A61A			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	61					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCTGCCAAGATTGTCA	0.507																																																	0								ENSG00000169618						226	198	207					2																	68873136		2203	4300	6503	PROKR1	SO:0001819	synonymous_variant	0			-	HGNC	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.183C>A	2.37:g.68873136C>A		Somatic	0	31	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A61	ENST00000303786.3	37	c.183	CCDS1889.1	2																																																																																			-	NULL		0.507	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	protein_coding	OTTHUMT00000251760.2	C		-		68873136	1	no_errors	ENST00000303786	ensembl	human	known	74_37	silent	SNP	1.000	A	A	68873136	C	A	68873136	2	1	53	1	0	0	0	0	0	0	0	1	12557	581	21	3		3	PROKR1	2	68873136	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	12764353	68873136	174326237	6	2971											
TGM4	7047	genome.wustl.edu	37	chr3	44943114	44943114	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggacaggcagtgccccgatCctgcagcagtactacaacac	10	14	0	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr3:44943114C>A	ENST00000296125.4	+	7	824	c.756C>A	c.(754-756)atC>atA	p.I252I	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	252					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTGCCCCGATCCTGCAGCAGT	0.567																																																	0								ENSG00000163810						122	112	115					3																	44943114		2203	4300	6503	TGM4	SO:0001819	synonymous_variant	0			-	HGNC	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.756C>A	3.37:g.44943114C>A		Somatic	0	17	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	Q16707|Q96QN4	Silent	SNP							pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I252	ENST00000296125.4	37	c.756	CCDS2723.1	3																																																																																			-	NULL		0.567	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	protein_coding	OTTHUMT00000256755.2	C	NM_003241	-		44943114	1	no_errors	ENST00000296125	ensembl	human	known	74_37	silent	SNP	1.000	A	A	44943114	C	A	44943114	2	1	53	1	0	0	0	0	0	0	0	1	15839	845	30	3		3	TGM4	3	44943114	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		44943114	153079316	7	2972											
CDCP1	64866	genome.wustl.edu	37	chr3	45152131	45152131	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggggttggtggtggagccCgggatgtagtattcaacccg	17	8	1	0	rs148271891	byFrequency	TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr3:45152131C>A	ENST00000296129.1	-	4	992	c.858G>T	c.(856-858)ccG>ccT	p.P286P	CDCP1_ENST00000425231.2_Silent_p.P286P|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	286						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGGTGGAGCCCGGGATGTAGT	0.572																																																	0								ENSG00000163814						146	136	140					3																	45152131		2203	4300	6503	CDCP1	SO:0001819	synonymous_variant	0			-	HGNC	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.858G>T	3.37:g.45152131C>A		Somatic	0	32	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP							superfamily_CUB_dom	p.P286	ENST00000296129.1	37	c.858	CCDS2727.1	3																																																																																			-	NULL		0.572	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	protein_coding	OTTHUMT00000256748.3	C	NM_022842	-		45152131	-1	no_errors	ENST00000296129	ensembl	human	known	74_37	silent	SNP	0.002	A	A	45152131	C	A	45152131	2	1	53	1	0	0	0	0	0	0	0	1	3095	639	23	3		3	CDCP1	3	45152131	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	209017	45152131	152870299	8	2973											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41042208	41042208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacctgtctttgatcccCcagttggttgggagcagtca	10	13	2	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr5:41042208C>T	ENST00000399564.4	-	19	2389	c.1939G>A	c.(1939-1941)Ggg>Agg	p.G647R	MROH2B_ENST00000506092.2_Missense_Mutation_p.G202R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	647																	CTTTGATCCCCCAGTTGGTTG	0.428																																																	0								ENSG00000171495						53	49	50					5																	41042208		1831	4086	5917	MROH2B	SO:0001583	missense	0			-	HGNC		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.1939G>A	5.37:g.41042208C>T	ENSP00000382476:p.Gly647Arg	Somatic	0	49	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	30	48.28	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.G647R	ENST00000399564.4	37	c.1939	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752217	0.69533	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01369	4.97;5.21	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.52532	D	0.000078	T	0.05777	0.0151	L	0.51422	1.61	0.39581	D	0.969437	D	0.89917	1.0	D	0.97110	1.0	T	0.58081	-0.7699	10	0.22109	T	0.4	.	15.5371	0.76013	0.0:1.0:0.0:0.0	.	647	Q7Z745	HTRB2_HUMAN	R	202;352;647	ENSP00000441504:G202R;ENSP00000382476:G647R	ENSP00000296803:G352R	G	-	1	0	HEATR7B2	41077965	0.744000	0.28250	0.743000	0.31040	0.756000	0.42949	3.761000	0.55242	2.746000	0.94184	0.460000	0.39030	GGG	-	superfamily_ARM-type_fold		0.428	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	C	NM_173489	-		41042208	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	0.869	T	T	41042208	C	T	41042208	3	4	53	1	0	0	0	0	1	0	0	0	7037	623	22	2	2914	2	HEATR7B2	5	41042208	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		41042208	139873052	9	2974											
RGMB	285704	genome.wustl.edu	37	chr5	98115393	98115393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgactctgagttttgCaaggccttgcgtgcctatgc	12	10	1	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr5:98115393C>T	ENST00000513185.1	+	2	682	c.246C>T	c.(244-246)tgC>tgT	p.C82C	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Silent_p.C123C			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	82					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGAGTTTTGCAAGGCCTTGC	0.542																																																	0								ENSG00000174136						127	128	127					5																	98115393		2002	4162	6164	RGMB	SO:0001819	synonymous_variant	0			-	HGNC	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.246C>T	5.37:g.98115393C>T		Somatic	0	27	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D6R9A0|Q8NC92	Silent	SNP							pfam_RGM_C,pfam_RGM_N	p.C123	ENST00000513185.1	37	c.369		5																																																																																			-	pfam_RGM_N		0.542	RGMB-003	KNOWN	basic	protein_coding	RGMB	protein_coding	OTTHUMT00000370308.1	C	NM_173670	-		98115393	1	no_errors	ENST00000308234	ensembl	human	known	74_37	silent	SNP	1.000	T	T	98115393	C	T	98115393	2	4	53	1	0	0	0	0	0	0	0	1	13289	718	25	2		2	RGMB	5	98115393	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	57073185	98115393	82799867	10	2975											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111576464	111576464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttccagaggtgcttgcaaGcagttttactccgagcttca	9	11	1	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr5:111576464G>T	ENST00000261486.5	-	10	1115	c.839C>A	c.(838-840)gCt>gAt	p.A280D	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	280	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTGCTTGCAAGCAGTTTTACT	0.348																																																	0								ENSG00000129595						72	68	70					5																	111576464		1815	4093	5908	EPB41L4A	SO:0001583	missense	0			-	HGNC	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.839C>A	5.37:g.111576464G>T	ENSP00000261486:p.Ala280Asp	Somatic	0	20	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	A4FUI6	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A280D	ENST00000261486.5	37	c.839	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426703	0.62733	.	.	ENSG00000129595	ENST00000261486	D	0.87729	-2.29	5.76	4.88	0.63580	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.267779	0.36591	N	0.002512	D	0.86830	0.6027	M	0.79805	2.47	0.35088	D	0.76402	P	0.43542	0.81	B	0.37650	0.255	D	0.92475	0.5988	10	0.87932	D	0	.	14.0608	0.64800	0.0751:0.0:0.9249:0.0	.	280	Q9HCS5	E41LA_HUMAN	D	280	ENSP00000261486:A280D	ENSP00000261486:A280D	A	-	2	0	EPB41L4A	111604363	0.950000	0.32346	1.000000	0.80357	0.986000	0.74619	3.569000	0.53827	2.720000	0.93068	0.655000	0.94253	GCT	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.348	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	protein_coding	OTTHUMT00000370969.1	G		-		111576464	-1	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	SNP	0.996	T	T	111576464	G	T	111576464	3	4	53	1	0	0	0	0	1	0	0	0	5157	971	34	3	1277	3	EPB41L4A	5	111576464	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	13461071	111576464	69338796	11	2976											
TMCO6	55374	genome.wustl.edu	37	chr5	140021484	140021484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgcggaccctggtcgGgctcctgaccagcaaccagg	13	15	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr5:140021484G>T	ENST00000394671.3	+	4	445	c.344G>T	c.(343-345)gGg>gTg	p.G115V	TMCO6_ENST00000511410.1_3'UTR|TMCO6_ENST00000252100.6_Missense_Mutation_p.G115V|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	115					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTGGTCGGGCTCCTGACC	0.637																																																	0								ENSG00000113119						34	39	37					5																	140021484		2050	4181	6231	TMCO6	SO:0001583	missense	0			-	HGNC	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.344G>T	5.37:g.140021484G>T	ENSP00000378166:p.Gly115Val	Somatic	0	18	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	9	57.14	Q9BUU0|Q9P198	Missense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.G115V	ENST00000394671.3	37	c.344	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989905	0.74589	.	.	ENSG00000113119	ENST00000394671;ENST00000252100	T;T	0.30182	1.54;1.54	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000019	T	0.45538	0.1347	L	0.47716	1.5	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.61722	0.893;0.893	T	0.33828	-0.9853	10	0.59425	D	0.04	-14.4106	14.3916	0.66983	0.0:0.1478:0.8522:0.0	.	115;115	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	V	115	ENSP00000378166:G115V;ENSP00000252100:G115V	ENSP00000252100:G115V	G	+	2	0	TMCO6	140001668	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.276000	0.78559	2.542000	0.85734	0.563000	0.77884	GGG	-	superfamily_ARM-type_fold,smart_Armadillo		0.637	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	protein_coding	OTTHUMT00000251666.2	G	NM_018502	-		140021484	1	no_errors	ENST00000252100	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140021484	G	T	140021484	3	4	53	1	0	0	0	0	1	0	0	0	16007	1232	43	3	358	3	TMCO6	5	140021484	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	28445020	140021484	40893776	12	2977											
FAM193B	54540	genome.wustl.edu	37	chr5	176952043	176952043	+	Frame_Shift_Del	DEL	T	T	-													ggatggagtctttgacagtgTttttgatctcctgcagacgg							TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr5:176952043delT	ENST00000514747.1	-	6	1487	c.1439delA	c.(1438-1440)aacfs	p.N480fs	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Frame_Shift_Del_p.N447fs|FAM193B_ENST00000329540.5_Frame_Shift_Del_p.N106fs	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	560						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TTTGACAGTGTTTTTGATCTC	0.597																																																	0								ENSG00000146067						91	95	94					5																	176952043		2028	4195	6223	FAM193B	SO:0001589	frameshift_variant	0				HGNC		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1439delA	5.37:g.176952043delT	ENSP00000422131:p.Asn480fs	Somatic	0	15	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	E9PET5|Q9NW00	Frame_Shift_Del	DEL							NULL	p.N447fs	ENST00000514747.1	37	c.1340	CCDS54954.1	5																																																																																			-	NULL		0.597	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	protein_coding	OTTHUMT00000373121.1	T	NM_019057			176952043	-1	no_errors	ENST00000443375	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	176952043	T	-	176952043	7	5	53	1	0	1	0	1	0	0	0	0	5527	1725	60	0	1041	0	FAM193B	5	176952043	Frame_Shift_Del	DEL	T	TCGA-DX-A3UC-01A-11D-A307-09	36930559	176952043	3963217	13	2978											
GRM4	2914	genome.wustl.edu	37	chr6	34100761	34100761	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaaggcactgaccttgaaGaggcgaaggatgttggccac	13	10	0	3			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr6:34100761G>T	ENST00000538487.2	-	2	956	c.513C>A	c.(511-513)ctC>ctA	p.L171L	GRM4_ENST00000374181.4_Silent_p.L171L|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	171					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGACCTTGAAGAGGCGAAGGA	0.632																																																	0								ENSG00000124493						66	58	61					6																	34100761		2203	4300	6503	GRM4	SO:0001819	synonymous_variant	0			-	HGNC	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.513C>A	6.37:g.34100761G>T		Somatic	0	29	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.L171	ENST00000538487.2	37	c.513	CCDS4787.1	6																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	protein_coding	OTTHUMT00000040213.2	G		-		34100761	-1	no_errors	ENST00000374181	ensembl	human	known	74_37	silent	SNP	1.000	T	T	34100761	G	T	34100761	2	4	53	1	0	0	0	0	0	0	0	1	6801	929	33	3		3	GRM4	6	34100761	Silent	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		34100761	137014306	14	2979											
TTLL2	83887	genome.wustl.edu	37	chr6	167754600	167754600	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaacagatgtgttggtgaaGagaaaacttgtccatgatat	10	5	1	4			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr6:167754600G>C	ENST00000239587.5	+	3	1300	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	404	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			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)		TGTTGGTGAAGAGAAAACTTG	0.398																																																	0								ENSG00000120440						125	131	129					6																	167754600		2203	4300	6503	TTLL2	SO:0001583	missense	0			-	HGNC	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.1212G>C	6.37:g.167754600G>C	ENSP00000239587:p.Lys404Asn	Somatic	0	29	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.K404N	ENST00000239587.5	37	c.1212	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525947	0.44969	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.07114	3.22	3.85	2.97	0.34412	.	0.000000	0.64402	D	0.000002	T	0.29556	0.0737	H	0.98238	4.18	0.37008	D	0.895616	D	0.89917	1.0	D	0.97110	1.0	T	0.39099	-0.9630	10	0.87932	D	0	.	7.855	0.29476	0.2074:0.0:0.7926:0.0	.	404	Q9BWV7	TTLL2_HUMAN	N	404;331	ENSP00000239587:K404N	ENSP00000239587:K404N	K	+	3	2	TTLL2	167674590	1.000000	0.71417	0.786000	0.31890	0.546000	0.35178	1.747000	0.38298	0.956000	0.37904	0.491000	0.48974	AAG	-	pfam_TTL/TTLL_fam		0.398	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	protein_coding	OTTHUMT00000043127.3	G	NM_031949	-		167754600	1	no_errors	ENST00000239587	ensembl	human	known	74_37	missense	SNP	1.000	C	C	167754600	G	C	167754600	3	2	53	1	0	0	0	0	1	0	0	0	16734	933	33	4	1222	4	TTLL2	6	167754600	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	133653839	167754600	3360467	15	2980											
PION	54103	genome.wustl.edu	37	chr7	76941178	76941178	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgattggaggactctataTctgtcagaatttcaatgaag	9	6	4	3	rs201644766		TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr7:76941178T>A	ENST00000257626.7	-	30	2531	c.2453A>T	c.(2452-2454)gAt>gTt	p.D818V	GSAP_ENST00000441833.2_Missense_Mutation_p.D139V|GSAP_ENST00000440473.1_5'Flank	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	818					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GGACTCTATATCTGTCAGAAT	0.408																																																	0								ENSG00000186088						77	76	76					7																	76941178		1856	4097	5953	GSAP	SO:0001583	missense	0			-	HGNC		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2453A>T	7.37:g.76941178T>A	ENSP00000257626:p.Asp818Val	Somatic	0	10	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP							NULL	p.D818V	ENST00000257626.7	37	c.2453	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848722	0.32699	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.21543	2.0	5.11	1.2	0.21068	.	0.449553	0.27105	N	0.020907	T	0.15176	0.0366	L	0.47716	1.5	0.19300	N	0.999978	P	0.37276	0.589	B	0.35813	0.211	T	0.13469	-1.0508	10	0.62326	D	0.03	.	4.3857	0.11316	0.0:0.1776:0.1691:0.6533	.	818	A4D1B5	GSAP_HUMAN	V	818;139	ENSP00000257626:D818V	ENSP00000257626:D818V	D	-	2	0	PION	76779114	0.643000	0.27269	0.017000	0.16124	0.992000	0.81027	0.951000	0.29135	0.117000	0.18138	0.454000	0.30748	GAT	-	NULL		0.408	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	protein_coding	OTTHUMT00000318672.2	T	NM_017439	-		76941178	-1	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	SNP	0.048	A	A	76941178	T	A	76941178	3	1	53	1	0	0	0	0	1	0	0	0	11936	1435	50	5	119	5	PION	7	76941178	Missense_Mutation	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09		76941178	82197485	16	2981											
ASPH	444	genome.wustl.edu	37	chr8	62559366	62559366	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcatctacatcagtcgccaTaagaaactcatcatcctctt	3	13	6	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr8:62559366T>A	ENST00000379454.4	-	6	749	c.562A>T	c.(562-564)Atg>Ttg	p.M188L	ASPH_ENST00000517847.2_Missense_Mutation_p.M174L|ASPH_ENST00000541428.1_Missense_Mutation_p.M159L|ASPH_ENST00000522919.1_Start_Codon_SNP_p.M1L|ASPH_ENST00000517903.1_Missense_Mutation_p.M174L|ASPH_ENST00000356457.5_Missense_Mutation_p.M188L|ASPH_ENST00000445642.3_Missense_Mutation_p.M174L|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000518068.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	188	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCAGTCGCCATAAGAAACTCA	0.388																																																	0								ENSG00000198363						383	384	384					8																	62559366		2203	4300	6503	ASPH	SO:0001583	missense	0			-	HGNC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.562A>T	8.37:g.62559366T>A	ENSP00000368767:p.Met188Leu	Somatic	0	50	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	45	55.88	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M188L	ENST00000379454.4	37	c.562	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801344	0.31869	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000517903;ENST00000445642;ENST00000517847	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.48	-7.43	0.01383	Aspartyl beta-hydroxylase/Triadin domain (1);	2.338930	0.01311	N	0.010611	T	0.22975	0.0555	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.08055	0.002;0.0;0.001;0.002;0.001;0.0;0.0;0.003	T	0.09885	-1.0654	10	0.17369	T	0.5	1.7494	2.6632	0.05032	0.0996:0.3606:0.2014:0.3385	.	188;174;174;159;188;188;174;188	B8Y0L3;B7ZM95;B7ZM96;F5H667;F8W7A9;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;ASPH_HUMAN	L	188;159;188;1;188;203;174;174;174	ENSP00000437864:M159L;ENSP00000368767:M188L;ENSP00000430516:M1L;ENSP00000348841:M188L;ENSP00000427823:M203L;ENSP00000430245:M174L;ENSP00000394013:M174L;ENSP00000429954:M174L	ENSP00000348841:M188L	M	-	1	0	ASPH	62721920	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.854000	0.04299	-1.443000	0.01953	-0.264000	0.10439	ATG	-	pfam_Asp-B-hydro/Triadin_dom		0.388	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	protein_coding	OTTHUMT00000378510.3	T	NM_004318	-		62559366	-1	no_errors	ENST00000379454	ensembl	human	known	74_37	missense	SNP	0.000	A	A	62559366	T	A	62559366	3	1	53	1	0	0	0	0	1	0	0	0	1053	1406	49	5	1806	5	ASPH	8	62559366	Missense_Mutation	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09		62559366	83804656	17	2982											
KDM4C	23081	genome.wustl.edu	37	chr9	6849598	6849598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgagggtgtaaatacccCatatctctattttggcatgt	8	7	1	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr9:6849598C>A	ENST00000381309.3	+	5	1092	c.527C>A	c.(526-528)cCa>cAa	p.P176Q	KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000543771.1_Missense_Mutation_p.P176Q|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.P176Q|KDM4C_ENST00000535193.1_Missense_Mutation_p.P198Q|KDM4C_ENST00000442236.2_5'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	176	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTAAATACCCCATATCTCTAT	0.448																																																	0								ENSG00000107077						224	199	208					9																	6849598		2203	4300	6503	KDM4C	SO:0001583	missense	0			-	HGNC	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.527C>A	9.37:g.6849598C>A	ENSP00000370710:p.Pro176Gln	Somatic	0	32	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.P176Q	ENST00000381309.3	37	c.527	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837299	0.91117	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.43	5.43	0.79202	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	M	0.92367	3.3	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;0.998;0.999;1.0;1.0	D	0.90966	0.4816	10	0.87932	D	0	-27.8636	19.2483	0.93912	0.0:1.0:0.0:0.0	.	176;176;198;176;176	F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	Q	198;176;176;176	ENSP00000442382:P198Q;ENSP00000445427:P176Q;ENSP00000370710:P176Q;ENSP00000370707:P176Q	ENSP00000370707:P176Q	P	+	2	0	KDM4C	6839598	1.000000	0.71417	0.991000	0.47740	0.909000	0.53808	7.750000	0.85110	2.540000	0.85666	0.491000	0.48974	CCA	-	smart_JmjC_dom,pfscan_JmjC_dom		0.448	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	protein_coding	OTTHUMT00000051692.1	C	NM_015061	-		6849598	1	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6849598	C	A	6849598	3	1	53	1	0	0	0	0	1	0	0	0	8132	594	21	3	611	3	KDM4C	9	6849598	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		6849598	134363833	18	2983											
MLLT3	4300	genome.wustl.edu	37	chr9	20620794	20620794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggttttttcctcacctGggcgcggtgccccagctcca	13	14	1	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr9:20620794G>T	ENST00000380338.4	-	2	338	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.Q15K	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	18	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTCCTCACCTGGGCGCGGTGC	0.597			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0								ENSG00000171843						87	86	87					9																	20620794		2203	4300	6503	MLLT3	SO:0001583	missense	0			-	HGNC	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.52C>A	9.37:g.20620794G>T	ENSP00000369695:p.Gln18Lys	Somatic	0	35	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP							pfam_YEATS,pfscan_YEATS	p.Q18K	ENST00000380338.4	37	c.52	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598547	0.66332	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.45034	0.1322	N	0.12746	0.255	0.80722	D	1	P;B	0.52061	0.95;0.118	P;B	0.49752	0.621;0.092	T	0.39981	-0.9587	9	0.26408	T	0.33	-7.6878	18.0624	0.89381	0.0:0.0:1.0:0.0	.	15;18	B7Z755;P42568	.;AF9_HUMAN	K	18;15;57	.	ENSP00000369695:Q18K	Q	-	1	0	MLLT3	20610794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.336000	0.79503	0.561000	0.74099	CAG	-	pfscan_YEATS		0.597	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	protein_coding	OTTHUMT00000051872.1	G	NM_004529	-		20620794	-1	no_errors	ENST00000380338	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20620794	G	T	20620794	3	4	53	1	0	0	0	0	1	0	0	0	9630	1357	47	3	1694	3	MLLT3	9	20620794	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	13771196	20620794	120592637	19	2984											
ZNF462	58499	genome.wustl.edu	37	chr9	109690005	109690005	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actcaaatgtaggcagtgctCatatacctccccctacttct	5	14	3	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr9:109690005C>T	ENST00000277225.5	+	3	4101	c.3812C>T	c.(3811-3813)tCa>tTa	p.S1271L	ZNF462_ENST00000457913.1_Missense_Mutation_p.S1271L|ZNF462_ENST00000441147.2_Missense_Mutation_p.S116L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1271					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)			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						AGGCAGTGCTCATATACCTCC	0.522																																																	0								ENSG00000148143						196	200	198					9																	109690005		2203	4300	6503	ZNF462	SO:0001583	missense	0			-	HGNC	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.3812C>T	9.37:g.109690005C>T	ENSP00000277225:p.Ser1271Leu	Somatic	0	19	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	15	51.61	Q5T0T4|Q8N408	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1271L	ENST00000277225.5	37	c.3812	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722652	0.89298	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06687	3.27;3.69;3.83;3.83	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);	0.250639	0.41500	D	0.000864	T	0.14917	0.0360	L	0.27053	0.805	0.80722	D	1	P;D	0.56287	0.804;0.975	B;P	0.59761	0.307;0.863	T	0.04537	-1.0944	10	0.33940	T	0.23	.	15.6579	0.77158	0.0:0.8532:0.1468:0.0	.	1271;1271	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1271;1271;154;116	ENSP00000277225:S1271L;ENSP00000414570:S1271L;ENSP00000363818:S154L;ENSP00000397306:S116L	ENSP00000277225:S1271L	S	+	2	0	ZNF462	108729826	0.982000	0.34865	0.919000	0.36401	0.943000	0.58893	5.811000	0.69187	2.505000	0.84491	0.555000	0.69702	TCA	-	smart_Znf_C2H2-like		0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	C	NM_021224	-		109690005	1	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	SNP	0.945	T	T	109690005	C	T	109690005	3	4	53	1	0	0	0	0	1	0	0	0	17933	838	29	2	3818	2	ZNF462	9	109690005	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	89069211	109690005	31523426	20	2985											
SARDH	1757	genome.wustl.edu	37	chr9	136594926	136594926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgacgacataggcatgGtgcatggccaccagcgggac	15	11	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr9:136594926G>A	ENST00000371872.4	-	6	1133	c.876C>T	c.(874-876)caC>caT	p.H292H	SARDH_ENST00000371867.1_Silent_p.H203H|SARDH_ENST00000298628.5_Silent_p.H292H|SARDH_ENST00000422262.2_Silent_p.H124H|SARDH_ENST00000439388.1_Silent_p.H292H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	292					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CATAGGCATGGTGCATGGCCA	0.632																																																	0								ENSG00000123453						102	84	90					9																	136594926		2203	4300	6503	SARDH	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.876C>T	9.37:g.136594926G>A		Somatic	0	12	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.H292	ENST00000371872.4	37	c.876	CCDS6978.1	9																																																																																			-	pfam_FAD-dep_OxRdtase		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	protein_coding	OTTHUMT00000054931.1	G		-		136594926	-1	no_errors	ENST00000371872	ensembl	human	known	74_37	silent	SNP	0.999	A	A	136594926	G	A	136594926	2	1	53	1	0	0	0	0	0	0	0	1	13849	1252	44	2		2	SARDH	9	136594926	Silent	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	26904921	136594926	4618505	21	2986											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72517795	72517795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagcctcgggcattgCgagggggataggccagacac	15	12	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr10:72517795C>T	ENST00000373207.1	+	20	3015	c.3015C>T	c.(3013-3015)tgC>tgT	p.C1005C	ADAMTS14_ENST00000373208.1_Silent_p.C1008C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1005	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGGCATTGCGAGGGGGATA	0.667																																																	0								ENSG00000138316						46	43	44					10																	72517795		2203	4300	6503	ADAMTS14	SO:0001819	synonymous_variant	0			-	HGNC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3015C>T	10.37:g.72517795C>T		Somatic	0	18	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C1008	ENST00000373207.1	37	c.3024	CCDS7306.1	10																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	protein_coding	OTTHUMT00000048522.1	C	NM_080722	-		72517795	1	no_errors	ENST00000373208	ensembl	human	known	74_37	silent	SNP	0.392	T	T	72517795	C	T	72517795	2	4	53	1	0	0	0	0	0	0	0	1	259	776	27	1		1	ADAMTS14	10	72517795	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		72517795	63016952	22	2987											
OR5AR1	219493	genome.wustl.edu	37	chr11	56431291	56431291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgtagtggggaatattGgtatgattatcctgattaca	10	3	0	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr11:56431291G>T	ENST00000302969.2	+	1	154	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGGGAATATTGGTATGATTAT	0.448																																																	0								ENSG00000172459						276	271	273					11																	56431291		2201	4296	6497	OR5AR1	SO:0001583	missense	0			-	HGNC	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.130G>T	11.37:g.56431291G>T	ENSP00000302639:p.Gly44Cys	Somatic	0	49	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6IF61	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G44C	ENST00000302969.2	37	c.130	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098528	0.20552	.	.	ENSG00000172459	ENST00000302969	T	0.01981	4.52	5.25	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000170	T	0.04272	0.0118	L	0.54863	1.705	0.09310	N	1	D	0.57257	0.979	P	0.47206	0.541	T	0.29761	-1.0001	10	0.72032	D	0.01	.	9.5071	0.39053	0.1593:0.0:0.8407:0.0	.	44	Q8NGP9	O5AR1_HUMAN	C	44	ENSP00000302639:G44C	ENSP00000302639:G44C	G	+	1	0	OR5AR1	56187867	0.000000	0.05858	0.479000	0.27329	0.055000	0.15305	0.033000	0.13754	1.454000	0.47793	0.637000	0.83480	GGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	protein_coding	OTTHUMT00000334434.1	G	NM_001004730	-		56431291	1	no_errors	ENST00000302969	ensembl	human	known	74_37	missense	SNP	0.010	T	T	56431291	G	T	56431291	3	4	53	1	0	0	0	0	1	0	0	0	11147	1348	47	3	132	3	OR5AR1	11	56431291	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		56431291	78575225	23	2988											
TMEM132A	54972	genome.wustl.edu	37	chr11	60704298	60704298	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtggcaggcgaggaggacatCcgctgggtgtgtgaggacat	19	7	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr11:60704298C>A	ENST00000453848.2	+	11	3149	c.2991C>A	c.(2989-2991)atC>atA	p.I997I	TMEM132A_ENST00000005286.4_Silent_p.I998I			Q24JP5	T132A_HUMAN	transmembrane protein 132A	997	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGGAGGACATCCGCTGGGTGT	0.627																																																	0								ENSG00000006118						33	41	39					11																	60704298		2203	4299	6502	TMEM132A	SO:0001819	synonymous_variant	0			-	HGNC	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2991C>A	11.37:g.60704298C>A		Somatic	0	43	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP							NULL	p.I998	ENST00000453848.2	37	c.2994	CCDS44618.1	11																																																																																			-	NULL		0.627	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	protein_coding	OTTHUMT00000396352.1	C	NM_017870	-		60704298	1	no_errors	ENST00000005286	ensembl	human	known	74_37	silent	SNP	1.000	A	A	60704298	C	A	60704298	2	1	53	1	0	0	0	0	0	0	0	1	16052	845	30	3		3	TMEM132A	11	60704298	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	4273007	60704298	74302218	24	2989											
ARAP1	116985	genome.wustl.edu	37	chr11	72410086	72410086	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccactcatgagcctgctcCgcactctccagcccaaacag	6	19	2	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr11:72410086C>A	ENST00000393609.3	-	18	2707	c.2505G>T	c.(2503-2505)gcG>gcT	p.A835A	ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Silent_p.A835A|ARAP1_ENST00000429686.1_Silent_p.A529A|ARAP1_ENST00000359373.5_Silent_p.A835A|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.A590A|ARAP1_ENST00000426523.1_Silent_p.A590A|ARAP1_ENST00000393605.3_Silent_p.A595A	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	835	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGCCTGCTCCGCACTCTCCA	0.592																																					Ovarian(102;1198 1520 13195 17913 37529)												0								ENSG00000186635						268	216	234					11																	72410086		2200	4293	6493	ARAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2505G>T	11.37:g.72410086C>A		Somatic	0	29	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.A835	ENST00000393609.3	37	c.2505	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	C	0.910	-0.719296	0.03182	.	.	ENSG00000186635	ENST00000340247	.	.	.	5.55	-6.76	0.01732	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	1.5456	0.02564	0.1786:0.1371:0.2529:0.4314	.	.	.	.	X	624	.	ENSP00000345207:G624X	G	-	1	0	ARAP1	72087734	0.000000	0.05858	0.072000	0.20136	0.044000	0.14063	-2.517000	0.00954	-0.919000	0.03803	-0.448000	0.05591	GGA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	protein_coding	OTTHUMT00000347428.1	C	NM_001040118	-		72410086	-1	no_errors	ENST00000393609	ensembl	human	known	74_37	silent	SNP	0.682	A	A	72410086	C	A	72410086	2	1	53	1	0	0	0	0	0	0	0	1	838	639	23	3		3	ARAP1	11	72410086	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	11705788	72410086	62596430	25	2990											
CHRDL2	25884	genome.wustl.edu	37	chr11	74414359	74414359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgtacctgggcaaaTcttgcagcacttcccagcca	8	16	1	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr11:74414359T>C	ENST00000376332.3	-	8	1433	c.937A>G	c.(937-939)Att>Gtt	p.I313V	CHRDL2_ENST00000263671.5_Missense_Mutation_p.I313V|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	313	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTGGGCAAATCTTGCAGCAC	0.637																																																	0								ENSG00000054938						49	43	45					11																	74414359		2200	4293	6493	CHRDL2	SO:0001583	missense	0			-	HGNC	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.937A>G	11.37:g.74414359T>C	ENSP00000365510:p.Ile313Val	Somatic	0	43	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	32	46.67	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP							pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.I313V	ENST00000376332.3	37	c.937		11	.	.	.	.	.	.	.	.	.	.	T	2.379	-0.342549	0.05243	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519	T;T	0.62498	0.02;0.02	5.75	4.62	0.57501	von Willebrand factor, type C (4);	0.164300	0.53938	N	0.000054	T	0.40145	0.1105	N	0.17312	0.475	0.40337	D	0.978998	B;B	0.26845	0.153;0.161	B;B	0.27262	0.078;0.075	T	0.23547	-1.0185	10	0.06099	T	0.92	-3.5298	9.8464	0.41030	0.0:0.0809:0.0:0.9191	.	313;313	Q6WN34;Q6WN34-2	CRDL2_HUMAN;.	V	313;313;199;197	ENSP00000263671:I313V;ENSP00000365510:I313V	ENSP00000263671:I313V	I	-	1	0	CHRDL2	74092007	1.000000	0.71417	0.993000	0.49108	0.149000	0.21700	1.171000	0.31896	1.003000	0.39130	0.459000	0.35465	ATT	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.637	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	protein_coding	OTTHUMT00000385391.1	T		-		74414359	-1	no_errors	ENST00000263671	ensembl	human	known	74_37	missense	SNP	1.000	C	C	74414359	T	C	74414359	3	2	53	1	0	0	0	0	1	0	0	0	3376	1435	50	5	438	5	CHRDL2	11	74414359	Missense_Mutation	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09	2004273	74414359	60592157	26	2991											
LAYN	143903	genome.wustl.edu	37	chr11	111420356	111420356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctacaggaactggtatgtgGatgagccatcctgcggcagc	13	11	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr11:111420356G>T	ENST00000375615.3	+	4	606	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	LAYN_ENST00000436913.2_Intron|LAYN_ENST00000375614.2_Missense_Mutation_p.D133Y|LAYN_ENST00000533265.1_Missense_Mutation_p.D133Y|LAYN_ENST00000525126.1_Missense_Mutation_p.D141Y|LAYN_ENST00000528924.1_Intron	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	CTGGTATGTGGATGAGCCATC	0.552																																					Ovarian(17;551 586 12136 22082 22900)												0								ENSG00000204381						72	64	67					11																	111420356		2201	4297	6498	LAYN	SO:0001583	missense	0			-	HGNC		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.421G>T	11.37:g.111420356G>T	ENSP00000364765:p.Asp141Tyr	Somatic	0	18	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.D141Y	ENST00000375615.3	37	c.421	CCDS58178.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663288	0.88251	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000533265;ENST00000541011	T;T;T;T	0.30448	3.1;1.53;1.53;3.1	5.66	5.66	0.87406	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.997	T	0.60505	-0.7250	10	0.66056	D	0.02	-23.7131	19.3539	0.94402	0.0:0.0:1.0:0.0	.	133;141;141;133	E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;LAYN_HUMAN;.;.	Y	133;141;141;133;96	ENSP00000364764:D133Y;ENSP00000364765:D141Y;ENSP00000434328:D141Y;ENSP00000434972:D133Y	ENSP00000364764:D133Y	D	+	1	0	LAYN	110925566	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.455000	0.97625	2.659000	0.90383	0.563000	0.77884	GAT	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	protein_coding	OTTHUMT00000391187.1	G	NM_178834	-		111420356	1	no_errors	ENST00000375615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111420356	G	T	111420356	3	4	53	1	0	0	0	0	1	0	0	0	8651	1174	41	3	407	3	LAYN	11	111420356	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	37005997	111420356	23586160	27	2992											
KRT85	3891	genome.wustl.edu	37	chr12	52756664	52756664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcattctcaatctcggCcgtcagcctctggatcatgc	9	14	5	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr12:52756664C>T	ENST00000257901.3	-	6	1126	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	KRT85_ENST00000544265.1_Missense_Mutation_p.A139T	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	351	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAATCTCGGCCGTCAGCCTC	0.592																																																	0								ENSG00000135443						146	119	128					12																	52756664		2203	4300	6503	KRT85	SO:0001583	missense	0			-	HGNC	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1051G>A	12.37:g.52756664C>T	ENSP00000257901:p.Ala351Thr	Somatic	0	37	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q9NSB1	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.A351T	ENST00000257901.3	37	c.1051	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682318	0.68042	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	T;T	0.79454	-0.93;-1.27	4.49	4.49	0.54785	Filament (1);	0.000000	0.56097	D	0.000021	T	0.78039	0.4221	M	0.73598	2.24	0.09310	N	1	B	0.27166	0.17	B	0.33121	0.158	T	0.72551	-0.4259	10	0.59425	D	0.04	.	11.89	0.52624	0.0:0.9128:0.0:0.0872	.	351	P78386	KRT85_HUMAN	T	351;139	ENSP00000257901:A351T;ENSP00000440240:A139T	ENSP00000257901:A351T	A	-	1	0	KRT85	51042931	0.000000	0.05858	0.607000	0.28956	0.987000	0.75469	-0.138000	0.10374	2.339000	0.79563	0.561000	0.74099	GCC	-	pfam_IF,superfamily_Prefoldin		0.592	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	protein_coding	OTTHUMT00000405184.1	C	NM_002283	-		52756664	-1	no_errors	ENST00000257901	ensembl	human	known	74_37	missense	SNP	0.029	T	T	52756664	C	T	52756664	3	4	53	1	0	0	0	0	1	0	0	0	8501	739	26	2	488	2	KRT85	12	52756664	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		52756664	81095231	28	2993											
STAT2	6773	genome.wustl.edu	37	chr12	56749495	56749495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgaattgtcctcaccaaTtgggccctctgagcctggat	9	13	2	2	rs112826194	byFrequency	TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr12:56749495T>C	ENST00000314128.4	-	4	401	c.378A>G	c.(376-378)caA>caG	p.Q126Q	STAT2_ENST00000557235.1_Silent_p.Q122Q|STAT2_ENST00000418572.2_Silent_p.Q122Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	126					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCCTCACCAATTGGGCCCTCT	0.473																																																	0								ENSG00000170581	T	,	8,4398	14.3+/-33.2	0,8,2195	126	131	129		378,366	-0.1	0	12	dbSNP_132	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	STAT2	NM_005419.3,NM_198332.1	,	0,9,6494	CC,CT,TT		0.0116,0.1816,0.0692	,	126/852,122/848	56749495	9,12997	2203	4300	6503	STAT2	SO:0001819	synonymous_variant	0			-	HGNC	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.378A>G	12.37:g.56749495T>C		Somatic	0	34	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	1	94.12	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q126	ENST00000314128.4	37	c.378	CCDS8917.1	12																																																																																			-	superfamily_STAT_TF_prot_interaction		0.473	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	protein_coding	OTTHUMT00000410277.1	T	NM_005419	rs112826194		56749495	-1	no_errors	ENST00000314128	ensembl	human	known	74_37	silent	SNP	0.144	C	C	56749495	T	C	56749495	2	2	53	1	0	0	0	0	0	0	0	1	15272	1490	52	5		5	STAT2	12	56749495	Silent	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09	3992831	56749495	77102400	29	2994											
C12orf64	283310	genome.wustl.edu	37	chr12	80663926	80663926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgatgaattagcaacgcCctctgctggtaagatcttaa	9	8	2	3			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr12:80663926C>T	ENST00000547103.1	+	22	2489	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	OTOGL_ENST00000458043.2_Missense_Mutation_p.P828L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	828					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTAGCAACGCCCTCTGCTGGT	0.383											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																																					0								ENSG00000165899						100	97	98					12																	80663926		1928	4135	6063	OTOGL	SO:0001583	missense	0			-	HGNC	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2483C>T	12.37:g.80663926C>T	ENSP00000447211:p.Pro828Leu	Somatic	0	44	0	1200	0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	34	46.03	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.P828L	ENST00000547103.1	37	c.2483		12	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129502	0.56721	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.17528	2.28;2.27	5.22	5.22	0.72569	.	.	.	.	.	T	0.15305	0.0369	N	0.16307	0.4	0.45648	D	0.99857	.	.	.	.	.	.	T	0.09596	-1.0667	7	0.31617	T	0.26	.	12.1148	0.53860	0.0:0.9161:0.0:0.0839	.	.	.	.	L	828	ENSP00000447211:P828L;ENSP00000400895:P828L	ENSP00000400895:P828L	P	+	2	0	OTOGL	79188057	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.305000	0.43664	2.588000	0.87417	0.650000	0.86243	CCC	-	smart_VWC_out		0.383	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	C	NM_173591	-		80663926	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80663926	C	T	80663926	3	4	53	1	0	0	0	0	1	0	0	0	1709	623	22	2	2569	2	C12orf64	12	80663926	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	23914431	80663926	53187969	30	2995											
FREM2	341640	genome.wustl.edu	37	chr13	39263770	39263770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccactgggtaccttggtcttGactgacaacccctcagtcgt	9	14	2	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr13:39263770G>C	ENST00000280481.7	+	1	2505	c.2289G>C	c.(2287-2289)ttG>ttC	p.L763F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	763					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)		CCTTGGTCTTGACTGACAACC	0.532																																																	0								ENSG00000150893						83	88	86					13																	39263770		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.2289G>C	13.37:g.39263770G>C	ENSP00000280481:p.Leu763Phe	Somatic	0	16	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L763F	ENST00000280481.7	37	c.2289	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920371	0.17982	.	.	ENSG00000150893	ENST00000280481	T	0.39406	1.08	5.8	3.05	0.35203	.	0.072531	0.56097	N	0.000030	T	0.32675	0.0837	L	0.58428	1.81	0.54753	D	0.999988	B	0.21309	0.054	B	0.23852	0.049	T	0.08086	-1.0739	10	0.09084	T	0.74	.	6.7643	0.23558	0.0665:0.233:0.5812:0.1193	.	763	Q5SZK8	FREM2_HUMAN	F	763	ENSP00000280481:L763F	ENSP00000280481:L763F	L	+	3	2	FREM2	38161770	0.997000	0.39634	0.972000	0.41901	0.859000	0.49053	0.397000	0.20883	0.335000	0.23614	0.655000	0.94253	TTG	-	NULL		0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	G	NM_207361	-		39263770	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39263770	G	C	39263770	3	2	53	1	0	0	0	0	1	0	0	0	6047	1281	45	4	2291	4	FREM2	13	39263770	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		39263770	75906108	31	2996											
DICER1	23405	genome.wustl.edu	37	chr14	95584038	95584038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtccagttatgaaaTtgctactgatataagccagc	8	9	0	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr14:95584038T>C	ENST00000526495.1	-	11	1721	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	DICER1_ENST00000343455.3_Missense_Mutation_p.N477S|DICER1_ENST00000527414.1_Missense_Mutation_p.N477S|DICER1_ENST00000541352.1_Missense_Mutation_p.N477S|DICER1_ENST00000393063.1_Missense_Mutation_p.N477S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	477	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGTTATGAAATTGCTACTGAT	0.363			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0								ENSG00000100697						172	150	157					14																	95584038		2203	4300	6503	DICER1	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	-	HGNC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1430A>G	14.37:g.95584038T>C	ENSP00000437256:p.Asn477Ser	Somatic	0	30	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.N477S	ENST00000526495.1	37	c.1430	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697429	0.68386	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.8	5.17	5.17	0.71159	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.04132	-0.27	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.44019	-0.9355	10	0.07644	T	0.81	-31.9186	15.3439	0.74320	0.0:0.0:0.0:1.0	.	477	Q9UPY3	DICER_HUMAN	S	477	ENSP00000343745:N477S;ENSP00000437256:N477S;ENSP00000376783:N477S;ENSP00000435681:N477S;ENSP00000444719:N477S	ENSP00000343745:N477S	N	-	2	0	DICER1	94653791	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.965000	0.87945	2.078000	0.62432	0.528000	0.53228	AAT	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.363	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	protein_coding	OTTHUMT00000387997.1	T		-		95584038	-1	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	SNP	1.000	C	C	95584038	T	C	95584038	3	2	53	1	0	0	0	0	1	0	0	0	4523	1493	52	5	4414	5	DICER1	14	95584038	Missense_Mutation	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09		95584038	11765502	32	2997											
ONECUT1	3175	genome.wustl.edu	37	chr15	53081679	53081693	+	In_Frame_Del	DEL	GGTGGTGGTGGTGAT	GGTGGTGGTGGTGAT	-													caggcgctggtggtggtgcgGgtggtggtggtgatggtggt							TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	GGTGGTGGTGGTGAT	GGTGGTGGTGGTGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr15:53081679_53081693delGGTGGTGGTGGTGAT	ENST00000305901.5	-	1	516_530	c.389_403delATCACCACCACCACC	c.(388-405)catcaccaccaccacccg>ccg	p.HHHHH130del	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	130	Poly-His.				B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		tggtggtgcgggtggtggtggtgatggtggtggtg	0.628																																																	0								ENSG00000169856			47,4215		18,11,2102						4.2	1			45	58,8196		24,10,4093	no	coding	ONECUT1	NM_004498.1		42,21,6195	A1A1,A1R,RR		0.7027,1.1028,0.8389				105,12411				ONECUT1	SO:0001651	inframe_deletion	0				HGNC	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.389_403delATCACCACCACCACC	15.37:g.53081679_53081693delGGTGGTGGTGGTGAT	ENSP00000302630:p.His130_His134del	Somatic					0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RTV4|Q99744|Q9UMR6	In_Frame_Del	DEL							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.HHHHH130in_frame_del	ENST00000305901.5	37	c.403_389	CCDS10150.1	15																																																																																			-	NULL		0.628	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	protein_coding	OTTHUMT00000254849.2	GGTGGTGGTGGTGAT				53081693	-1	no_errors	ENST00000305901	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.913:1.000	-	-	53081693	GGTGGTGGTGGTGAT	-	53081679	7	5	53	1	0	1	0	1	0	0	0	0	10870	1232	43	0	1002	0	ONECUT1	15	53081679	In_Frame_Del	DEL	GGTGGTGGTGGTGAT	TCGA-DX-A3UC-01A-11D-A307-09		53081679	49449713	33	2998			1	40		3	2	15	N	T_GGTGGTGGTGGTGAT_A	2.306417e-05
ONECUT1	3175	genome.wustl.edu	37	chr15	53081692	53081692	+	Missense_Mutation	SNP	A	A	C													tggtgcgggtggtggtggtgAtggtggtggtggtgatggtg							TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr15:53081692A>C	ENST00000305901.5	-	1	517	c.390T>G	c.(388-390)caT>caG	p.H130Q	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	130	Poly-His.				B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		ggtggtggtgatggtggtggt	0.642																																																	0								ENSG00000169856						52	47	49					15																	53081692		2194	4293	6487	ONECUT1	SO:0001583	missense	0			-	HGNC	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.390T>G	15.37:g.53081692A>C	ENSP00000302630:p.His130Gln	Somatic	0	45	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.H130Q	ENST00000305901.5	37	c.390	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579621	0.28180	.	.	ENSG00000169856	ENST00000305901	T	0.50548	0.74	3.92	-5.47	0.02600	.	0.126884	0.50627	D	0.000119	T	0.51991	0.1707	L	0.51422	1.61	0.80722	D	1	P	0.44006	0.824	P	0.60886	0.88	T	0.56007	-0.8050	10	0.25106	T	0.35	-9.6666	13.5628	0.61799	0.348:0.0:0.652:0.0	.	130	Q9UBC0	HNF6_HUMAN	Q	130	ENSP00000302630:H130Q	ENSP00000302630:H130Q	H	-	3	2	ONECUT1	50868984	0.982000	0.34865	0.829000	0.32907	0.965000	0.64279	0.174000	0.16743	-1.047000	0.03242	0.352000	0.21897	CAT	-	NULL		0.642	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	protein_coding	OTTHUMT00000254849.2	A		-		53081692	-1	no_errors	ENST00000305901	ensembl	human	known	74_37	missense	SNP	0.913	C	C	53081692	A	C	53081692	3	2	53	1	0	0	0	0	1	0	0	0	10870	330	12	5	1015	5	ONECUT1	15	53081692	Missense_Mutation	SNP	A	TCGA-DX-A3UC-01A-11D-A307-09	13	53081692	49449700	34	2999	44	2	1	40		3	2	15	N	T_GGTGGTGGTGGTGAT_A	2.306417e-05
ONECUT1	3175	genome.wustl.edu	37	chr15	53081693	53081693	+	Missense_Mutation	SNP	T	T	G													ggtgcgggtggtggtggtgaTggtggtggtggtgatggtgg							TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr15:53081693T>G	ENST00000305901.5	-	1	516	c.389A>C	c.(388-390)cAt>cCt	p.H130P	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	130	Poly-His.				B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		gtggtggtgatggtggtggtg	0.637																																																	0								ENSG00000169856						52	47	49					15																	53081693		2194	4293	6487	ONECUT1	SO:0001583	missense	0			-	HGNC	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.389A>C	15.37:g.53081693T>G	ENSP00000302630:p.His130Pro	Somatic	0	44	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.H130P	ENST00000305901.5	37	c.389	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003964	0.35320	.	.	ENSG00000169856	ENST00000305901	T	0.51574	0.7	4.2	4.2	0.49525	.	0.126884	0.50627	D	0.000119	T	0.51126	0.1656	L	0.31294	0.92	0.80722	D	1	P	0.51240	0.943	D	0.64321	0.924	T	0.40459	-0.9562	10	0.22109	T	0.4	-9.6666	12.2841	0.54783	0.0:0.0:0.0:1.0	.	130	Q9UBC0	HNF6_HUMAN	P	130	ENSP00000302630:H130P	ENSP00000302630:H130P	H	-	2	0	ONECUT1	50868985	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.431000	0.80335	1.760000	0.52011	0.352000	0.21897	CAT	-	NULL		0.637	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	protein_coding	OTTHUMT00000254849.2	T		-		53081693	-1	no_errors	ENST00000305901	ensembl	human	known	74_37	missense	SNP	1.000	G	G	53081693	T	G	53081693	3	3	53	1	0	0	0	0	1	0	0	0	10870	1464	51	5	1016	5	ONECUT1	15	53081693	Missense_Mutation	SNP	T	TCGA-DX-A3UC-01A-11D-A307-09	1	53081693	49449699	35	3000	44	2	1	40		3	2	15	N	T_GGTGGTGGTGGTGAT_A	2.306417e-05
GOLGA6C	653641	genome.wustl.edu	37	chr15	75562507	75562507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccccccggtacagcagatCgtgcagctgtctcctgtcat	9	15	2	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr15:75562507C>T	ENST00000300576.5	+	18	2049	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	683						Golgi apparatus (GO:0005794)				ovary(1)	1						TACAGCAGATCGTGCAGCTGT	0.592																																																	0								ENSG00000167195						45	58	54					15																	75562507		656	1575	2231	GOLGA6C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2049C>T	15.37:g.75562507C>T		Somatic	0	141	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	117	36.41		Silent	SNP							NULL	p.I683	ENST00000300576.5	37	c.2049	CCDS58388.1	15																																																																																			-	NULL		0.592	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	protein_coding	OTTHUMT00000419797.1	C	NM_001164404	-		75562507	1	no_errors	ENST00000300576	ensembl	human	known	74_37	silent	SNP	1.000	T	T	75562507	C	T	75562507	2	4	53	1	0	0	0	0	0	0	0	1	6561	874	31	1		1	GOLGA6C	15	75562507	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	22480814	75562507	26968885	36	3001											
MEFV	4210	genome.wustl.edu	37	chr16	3299599	3299599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggggcttaggcttccCgggctcttcctttcatggga	15	11	2	0	rs11466022	byFrequency	TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr16:3299599C>T	ENST00000219596.1	-	3	1131	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	MEFV_ENST00000339854.4_Silent_p.P184P|MEFV_ENST00000536379.1_Silent_p.P153P|MEFV_ENST00000541159.1_Silent_p.P153P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	364					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						TTAGGCTTCCCGGGCTCTTCC	0.647																																																	0								ENSG00000103313						37	35	36					16																	3299599		2197	4300	6497	MEFV	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.1092G>A	16.37:g.3299599C>T		Somatic	0	38	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	27	53.45	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP							pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.P364	ENST00000219596.1	37	c.1092	CCDS10498.1	16																																																																																			-	NULL		0.647	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	C	NM_000243	rs11466022		3299599	-1	no_errors	ENST00000219596	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3299599	C	T	3299599	2	4	53	1	0	0	0	0	0	0	0	1	9461	639	23	1		1	MEFV	16	3299599	Silent	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		3299599	87055154	37	3002											
BTBD12	84464	genome.wustl.edu	37	chr16	3641103	3641103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatttctgcttcattcaCgttttcttgatcttcttcgt	4	11	6	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr16:3641103C>T	ENST00000294008.3	-	12	3176	c.2536G>A	c.(2536-2538)Gtg>Atg	p.V846M		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	846	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTTCATTCACGTTTTCTTGA	0.483								Direct reversal of damage																																									0								ENSG00000188827						156	157	156					16																	3641103		2197	4300	6497	SLX4	SO:0001583	missense	0			-	HGNC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2536G>A	16.37:g.3641103C>T	ENSP00000294008:p.Val846Met	Somatic	0	65	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	62	41.51	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V846M	ENST00000294008.3	37	c.2536	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	8.241	0.806912	0.16467	.	.	ENSG00000188827	ENST00000294008	T	0.01725	4.67	5.57	2.59	0.31030	.	0.094472	0.44483	N	0.000448	T	0.02807	0.0084	L	0.52126	1.63	0.24605	N	0.993758	D	0.69078	0.997	P	0.45913	0.497	T	0.42137	-0.9469	10	0.49607	T	0.09	.	10.1114	0.42565	0.0:0.7828:0.0:0.2172	.	846	Q8IY92	SLX4_HUMAN	M	846	ENSP00000294008:V846M	ENSP00000294008:V846M	V	-	1	0	SLX4	3581104	0.945000	0.32115	0.527000	0.27925	0.154000	0.21943	1.596000	0.36718	0.727000	0.32360	-0.224000	0.12420	GTG	-	NULL		0.483	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	protein_coding	OTTHUMT00000157301.3	C	NM_032444	-		3641103	-1	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	SNP	0.462	T	T	3641103	C	T	3641103	3	4	53	1	0	0	0	0	1	0	0	0	1542	536	19	1	2984	1	BTBD12	16	3641103	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	341504	3641103	86713650	38	3003											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53679891	53679891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgtagaactgagttgagCagttttgggtgcttgctgac	13	6	1	4			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr16:53679891C>A	ENST00000379925.3	-	17	2379	c.2329G>T	c.(2329-2331)Gct>Tct	p.A777S	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.A777S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A777S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A777S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	777	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTGAGTTGAGCAGTTTTGGGT	0.403																																																	0								ENSG00000103494						82	76	78					16																	53679891		2198	4300	6498	RPGRIP1L	SO:0001583	missense	0			-	HGNC		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2329G>T	16.37:g.53679891C>A	ENSP00000369257:p.Ala777Ser	Somatic	0	26	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A0PJ88|Q9Y2K8	Missense_Mutation	SNP							pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A777S	ENST00000379925.3	37	c.2329	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	9.512	1.106098	0.20632	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76316	-0.81;-1.01	5.53	3.59	0.41128	C2 calcium/lipid-binding domain, CaLB (1);	0.348821	0.30185	N	0.010202	T	0.56499	0.1989	N	0.08118	0	0.80722	D	1	B;B;B;B	0.19200	0.023;0.034;0.013;0.011	B;B;B;B	0.20767	0.013;0.031;0.013;0.017	T	0.44574	-0.9319	10	0.26408	T	0.33	-8.5876	9.2584	0.37597	0.0:0.7757:0.0:0.2243	.	777;777;777;777	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	777	ENSP00000369257:A777S;ENSP00000262135:A777S	ENSP00000262135:A777S	A	-	1	0	RPGRIP1L	52237392	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.753000	0.26376	0.704000	0.31869	-0.263000	0.10527	GCT	-	superfamily_C2_dom		0.403	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	protein_coding	OTTHUMT00000422187.1	C	NM_015272	-		53679891	-1	no_errors	ENST00000379925	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53679891	C	A	53679891	3	1	53	1	0	0	0	0	1	0	0	0	13558	710	25	3	1662	3	RPGRIP1L	16	53679891	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	50038788	53679891	36674862	39	3004											
HAS3	3038	genome.wustl.edu	37	chr16	69149089	69149089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctactgggtggccctcCtcatgctatatctggccatc	10	14	2	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr16:69149089C>A	ENST00000306560.1	+	4	1738	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	HAS3_ENST00000569188.1_Missense_Mutation_p.L528I|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	528					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGTGGCCCTCCTCATGCTATA	0.572																																																	0								ENSG00000103044						88	89	88					16																	69149089		2198	4300	6498	HAS3	SO:0001583	missense	0			-	HGNC	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1582C>A	16.37:g.69149089C>A	ENSP00000304440:p.Leu528Ile	Somatic	0	35	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP							pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.L528I	ENST00000306560.1	37	c.1582	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069776	0.36566	.	.	ENSG00000103044	ENST00000306560	T	0.60299	0.2	5.76	4.81	0.61882	.	0.059424	0.64402	D	0.000001	T	0.54029	0.1833	L	0.53729	1.69	0.45515	D	0.998472	B	0.22146	0.065	B	0.21546	0.035	T	0.52328	-0.8590	10	0.40728	T	0.16	-18.862	14.9353	0.70951	0.0:0.9304:0.0:0.0696	.	528	O00219	HAS3_HUMAN	I	528	ENSP00000304440:L528I	ENSP00000304440:L528I	L	+	1	0	HAS3	67706590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.068000	0.41471	1.575000	0.49775	0.655000	0.94253	CTC	-	NULL		0.572	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	protein_coding	OTTHUMT00000268898.2	C	NM_138612	-		69149089	1	no_errors	ENST00000306560	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69149089	C	A	69149089	3	1	53	1	0	0	0	0	1	0	0	0	6965	681	24	3	1592	3	HAS3	16	69149089	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	15469198	69149089	21205664	40	3005											
PHLPP2	23035	genome.wustl.edu	37	chr16	71748565	71748565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaggtggtggtggttGtagtggcagtggtagtgtct	20	2	1	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr16:71748565G>A	ENST00000568954.1	-	2	512	c.134C>T	c.(133-135)aCa>aTa	p.T45I	PHLPP2_ENST00000393524.2_Missense_Mutation_p.T45I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T45I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T45I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T80I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	45	Poly-Thr.				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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGTGGTGGTTGTAGTGGCAGT	0.478																																																	0								ENSG00000040199						194	130	152					16																	71748565		2198	4300	6498	PHLPP2	SO:0001583	missense	0			-	HGNC	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.134C>T	16.37:g.71748565G>A	ENSP00000457991:p.Thr45Ile	Somatic	0	28	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	1	95.65	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP							pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom	p.T45I	ENST00000568954.1	37	c.134	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337700	0.60963	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.46063	1.34;1.41;0.88	5.58	5.58	0.84498	.	0.587434	0.18001	N	0.154911	T	0.25901	0.0631	N	0.08118	0	0.27897	N	0.939109	B;B	0.27380	0.096;0.177	B;B	0.26202	0.067;0.049	T	0.13469	-1.0508	10	0.31617	T	0.26	0.2957	15.0563	0.71915	0.0:0.0:1.0:0.0	.	45;45	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	I	45	ENSP00000353610:T45I;ENSP00000348611:T45I;ENSP00000377159:T45I	ENSP00000348611:T45I	T	-	2	0	PHLPP2	70306066	0.894000	0.30519	0.609000	0.28983	0.980000	0.70556	3.194000	0.51005	2.622000	0.88805	0.591000	0.81541	ACA	-	NULL		0.478	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	protein_coding	OTTHUMT00000434139.1	G	NM_015020	-		71748565	-1	no_errors	ENST00000356272	ensembl	human	known	74_37	missense	SNP	0.688	A	A	71748565	G	A	71748565	3	1	53	1	0	0	0	0	1	0	0	0	11857	1377	48	2	3909	2	PHLPP2	16	71748565	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	2599476	71748565	18606188	41	3006											
WRAP53	55135	genome.wustl.edu	37	chr17	7592932	7592932	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgacggttcctgcatcttGaccaatagtgctgataacat	8	11	1	3			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr17:7592932G>C	ENST00000316024.5	+	3	2903	c.555G>C	c.(553-555)ttG>ttC	p.L185F	WRAP53_ENST00000396463.2_Missense_Mutation_p.L185F|WRAP53_ENST00000534050.1_Missense_Mutation_p.L152F|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000420246.2_5'Flank|TP53_ENST00000445888.2_5'Flank|WRAP53_ENST00000457584.2_Missense_Mutation_p.L185F|WRAP53_ENST00000431639.2_Missense_Mutation_p.L185F|TP53_ENST00000455263.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	185					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCTGCATCTTGACCAATAGTG	0.517																																																	0								ENSG00000141499						104	93	97					17																	7592932		2203	4300	6503	WRAP53	SO:0001583	missense	0			-	HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.555G>C	17.37:g.7592932G>C	ENSP00000324203:p.Leu185Phe	Somatic	0	33	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	2	95.35	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L185F	ENST00000316024.5	37	c.555	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021801	0.75275	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.67171	0.1;0.1;0.1;0.1;-0.25	5.0	3.97	0.46021	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000010	D	0.82861	0.5129	M	0.88241	2.94	0.40299	D	0.978581	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.86048	0.1524	10	0.62326	D	0.03	-7.9239	12.5379	0.56152	0.0:0.1693:0.8307:0.0	.	152;185	E9PMG4;Q9BUR4	.;WAP53_HUMAN	F	185;185;185;185;152	ENSP00000397219:L185F;ENSP00000324203:L185F;ENSP00000411061:L185F;ENSP00000379727:L185F;ENSP00000434999:L152F	ENSP00000324203:L185F	L	+	3	2	WRAP53	7533657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.423000	0.44705	2.330000	0.79161	0.655000	0.94253	TTG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.517	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	G	NM_018081	-		7592932	1	no_errors	ENST00000316024	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7592932	G	C	7592932	3	2	53	1	0	0	0	0	1	0	0	0	17407	1281	45	4	565	4	WRAP53	17	7592932	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		7592932	73602278	42	3007											
SMARCE1	6605	genome.wustl.edu	37	chr17	38785087	38785087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgttggtggctcctccaCtgttgcactgttgctctccg	10	13	2	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr17:38785087C>T	ENST00000348513.6	-	11	1966	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	SMARCE1_ENST00000580419.1_Missense_Mutation_p.V361M|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.V378M|SMARCE1_ENST00000544009.1_Missense_Mutation_p.V326M|SMARCE1_ENST00000578044.1_Missense_Mutation_p.V326M|SMARCE1_ENST00000400122.3_3'UTR|KRT222_ENST00000476049.1_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	396	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				GGCTCCTCCACTGTTGCACTG	0.448																																																	0								ENSG00000073584						131	115	120					17																	38785087		2203	4300	6503	SMARCE1	SO:0001583	missense	0			-	HGNC	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1186G>A	17.37:g.38785087C>T	ENSP00000323967:p.Val396Met	Somatic	0	33	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V396M	ENST00000348513.6	37	c.1186	CCDS11370.1	17	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009183	0.75046	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889	T;T	0.20200	2.09;2.1	5.51	5.51	0.81932	.	0.275539	0.41938	D	0.000783	T	0.19525	0.0469	N	0.24115	0.695	0.41346	D	0.987338	B;B	0.27732	0.187;0.187	B;B	0.32393	0.121;0.145	T	0.04840	-1.0923	10	0.33141	T	0.24	.	19.7872	0.96444	0.0:1.0:0.0:0.0	.	361;396	C0IMW4;Q969G3	.;SMCE1_HUMAN	M	396;326;378	ENSP00000323967:V396M;ENSP00000445370:V378M	ENSP00000323967:V396M	V	-	1	0	SMARCE1	36038613	0.993000	0.37304	0.959000	0.39883	0.998000	0.95712	3.212000	0.51145	2.741000	0.93983	0.655000	0.94253	GTG	-	NULL		0.448	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	protein_coding	OTTHUMT00000257203.1	C	NM_003079	-		38785087	-1	no_errors	ENST00000348513	ensembl	human	known	74_37	missense	SNP	0.998	T	T	38785087	C	T	38785087	3	4	53	1	0	0	0	0	1	0	0	0	14788	565	20	2	53	2	SMARCE1	17	38785087	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	31192155	38785087	42410123	43	3008											
KLHL10	317719	genome.wustl.edu	37	chr17	40003538	40003538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catatgtggtgggtttaatgGaaacgagtgcctgttcacag	13	6	1	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr17:40003538G>T	ENST00000293303.4	+	4	1481	c.1328G>T	c.(1327-1329)gGa>gTa	p.G443V	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	443					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGGTTTAATGGAAACGAGTGC	0.433																																																	0								ENSG00000161594						141	130	134					17																	40003538		1938	4147	6085	KLHL10	SO:0001583	missense	0			-	HGNC	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1328G>T	17.37:g.40003538G>T	ENSP00000293303:p.Gly443Val	Somatic	0	34	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6NW28|Q96MC0	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G443V	ENST00000293303.4	37	c.1328	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624789	0.87560	.	.	ENSG00000161594	ENST00000293303	T	0.71341	-0.56	5.17	5.17	0.71159	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87623	0.2511	9	.	.	.	.	17.4056	0.87472	0.0:0.0:1.0:0.0	.	443	Q6JEL2	KLH10_HUMAN	V	443	ENSP00000293303:G443V	.	G	+	2	0	KLHL10	37257064	1.000000	0.71417	0.938000	0.37757	0.985000	0.73830	5.044000	0.64214	2.689000	0.91719	0.491000	0.48974	GGA	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.433	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	protein_coding	OTTHUMT00000326535.1	G	NM_152467	-		40003538	1	no_errors	ENST00000293303	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40003538	G	T	40003538	3	4	53	1	0	0	0	0	1	0	0	0	8368	1174	41	3	1342	3	KLHL10	17	40003538	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09	1218451	40003538	41191672	44	3009											
CYP4F2	8529	genome.wustl.edu	37	chr19	16008315	16008315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagaaggcgtaggtccagGccaggacatgggccaggagc	16	10	0	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr19:16008315G>A	ENST00000221700.6	-	2	202	c.107C>T	c.(106-108)gCc>gTc	p.A36V	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						GTAGGTCCAGGCCAGGACATG	0.647																																																	0								ENSG00000186115						78	77	78					19																	16008315		2203	4300	6503	CYP4F2	SO:0001583	missense	0			-	HGNC	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.107C>T	19.37:g.16008315G>A	ENSP00000221700:p.Ala36Val	Somatic	0	55	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51		Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.A36V	ENST00000221700.6	37	c.107	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	g	13.91	2.377030	0.42105	.	.	ENSG00000186115	ENST00000221700	D	0.91464	-2.85	2.99	2.99	0.34606	.	0.664063	0.12414	U	0.471052	D	0.88213	0.6376	M	0.69823	2.125	0.58432	D	0.999999	B	0.10296	0.003	B	0.13407	0.009	T	0.82713	-0.0321	10	0.23891	T	0.37	.	9.6204	0.39719	0.0:0.0:1.0:0.0	.	36	P78329	CP4F2_HUMAN	V	36	ENSP00000221700:A36V	ENSP00000221700:A36V	A	-	2	0	CYP4F2	15869315	0.001000	0.12720	0.243000	0.24186	0.583000	0.36354	0.624000	0.24462	1.655000	0.50712	0.479000	0.44913	GCC	-	NULL		0.647	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	protein_coding	OTTHUMT00000460372.3	G	NM_001082	-		16008315	-1	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	SNP	0.791	A	A	16008315	G	A	16008315	3	1	53	1	0	0	0	0	1	0	0	0	4190	1203	42	2	1503	2	CYP4F2	19	16008315	Missense_Mutation	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		16008315	43120668	45	3010											
LRFN3	79414	genome.wustl.edu	37	chr19	36431082	36431087	+	In_Frame_Del	DEL	ACTGCA	ACTGCA	-													ctttggcgggaaccccctgcActgcaactgcgagctggtgt							TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	ACTGCA	ACTGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr19:36431082_36431087delACTGCA	ENST00000588831.1	+	3	1809_1814	c.755_760delACTGCA	c.(754-762)cactgcaac>cac	p.CN253del	LRFN3_ENST00000246529.3_In_Frame_Del_p.CN253del			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	253	LRRCT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				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)			AACCCCCTGCACTGCAACTGCGAGCT	0.738																																																	0								ENSG00000126243																																			LRFN3	SO:0001651	inframe_deletion	0				HGNC	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.755_760delACTGCA	19.37:g.36431082_36431087delACTGCA	ENSP00000466989:p.Cys253_Asn254del	Somatic					0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6UY10	In_Frame_Del	DEL							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.NC254in_frame_del	ENST00000588831.1	37	c.755_760	CCDS12483.1	19																																																																																			-	smart_Cys-rich_flank_reg_C		0.738	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	protein_coding	OTTHUMT00000457403.2	ACTGCA	NM_024509			36431087	1	no_errors	ENST00000246529	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-	-	36431087	ACTGCA	-	36431082	7	5	53	1	0	1	0	1	0	0	0	0	8941	159	6	0	757	0	LRFN3	19	36431082	In_Frame_Del	DEL	ACTGCA	TCGA-DX-A3UC-01A-11D-A307-09	20422767	36431082	22697901	46	3011											
VPS16	64601	genome.wustl.edu	37	chr20	2841110	2841110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaagtgctccagaacCgggttctggatgcccggatc	13	12	2	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr20:2841110C>T	ENST00000380445.3	+	5	457	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	VPS16_ENST00000380469.3_Missense_Mutation_p.R129W|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	129					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCTCCAGAACCGGGTTCTGGA	0.597																																																	0								ENSG00000215305						76	74	75					20																	2841110		2203	4300	6503	VPS16	SO:0001583	missense	0			-	HGNC	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.385C>T	20.37:g.2841110C>T	ENSP00000369810:p.Arg129Trp	Somatic	0	41	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP							pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.R129W	ENST00000380445.3	37	c.385	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229040	0.79688	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.44881	0.91;0.91	5.95	5.95	0.96441	Vps16, N-terminal (1);	0.166737	0.53938	D	0.000042	T	0.56587	0.1995	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.60609	0.877;0.865	T	0.55547	-0.8124	10	0.72032	D	0.01	-25.9441	17.8727	0.88815	0.0:1.0:0.0:0.0	.	129;129	Q9H269-2;Q9H269	.;VPS16_HUMAN	W	129;129;11;11	ENSP00000369810:R129W;ENSP00000369836:R129W	ENSP00000369810:R129W	R	+	1	2	VPS16	2789110	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.503000	0.53340	2.826000	0.97356	0.563000	0.77884	CGG	-	pfam_Vps16_N,pirsf_VPS16		0.597	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	protein_coding	OTTHUMT00000077658.2	C	NM_022575	-		2841110	1	no_errors	ENST00000380445	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2841110	C	T	2841110	3	4	53	1	0	0	0	0	1	0	0	0	17200	643	23	1	403	1	VPS16	20	2841110	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09		2841110	60184410	47	3012											
SEL1L2	80343	genome.wustl.edu	37	chr20	13850192	13850192	+	Frame_Shift_Del	DEL	T	T	-													aactgtgcgtcgggccacccTttttccgcagctttctgaaa							TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr20:13850192delT	ENST00000284951.5	-	14	1286	c.1212delA	c.(1210-1212)aaafs	p.K404fs	SEL1L2_ENST00000378072.5_Frame_Shift_Del_p.K404fs|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						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						CGGGCCACCCTTTTTCCGCAG	0.393																																																	0								ENSG00000101251						106	99	101					20																	13850192		1868	4113	5981	SEL1L2	SO:0001589	frameshift_variant	0				HGNC	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.1212delA	20.37:g.13850192delT	ENSP00000284951:p.Lys404fs	Somatic	0	18	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B4DXX5	Frame_Shift_Del	DEL							pfam_Sel1-like,smart_Sel1-like	p.W406fs	ENST00000284951.5	37	c.1212		20																																																																																			-	smart_Sel1-like		0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	T	NM_025229			13850192	-1	no_errors	ENST00000284951	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	13850192	T	-	13850192	7	5	53	1	0	1	0	1	0	0	0	0	14019	1606	56	0	882	0	SEL1L2	20	13850192	Frame_Shift_Del	DEL	T	TCGA-DX-A3UC-01A-11D-A307-09	11009082	13850192	49175328	48	3013											
PRMT2	3275	genome.wustl.edu	37	chr21	48083355	48083355	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccctgtccatacaggAgacgtggtcacgggttcagt	12	12	2	1			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr21:48083355A>T	ENST00000397637.1	+	10	2112	c.1158A>T	c.(1156-1158)ggA>ggT	p.G386G	PRMT2_ENST00000458387.2_Nonsense_Mutation_p.R239*|PRMT2_ENST00000397638.2_Silent_p.G386G|PRMT2_ENST00000440086.1_Silent_p.G284G|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000355680.3_Silent_p.G386G|PRMT2_ENST00000451211.2_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	386	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCCATACAGGAGACGTGGTCA	0.572																																																	0								ENSG00000160310						186	146	159					21																	48083355		2203	4300	6503	PRMT2	SO:0001819	synonymous_variant	0			-	HGNC	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.1158A>T	21.37:g.48083355A>T		Somatic	0	27	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Nonsense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.R239*	ENST00000397637.1	37	c.715	CCDS13737.1	21	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632505	0.67015	.	.	ENSG00000160310	ENST00000458387	.	.	.	5.29	-2.21	0.06973	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0315	1.4573	0.02388	0.4684:0.1365:0.2627:0.1325	.	.	.	.	X	239	.	.	R	+	1	2	PRMT2	46907783	1.000000	0.71417	0.881000	0.34555	0.058000	0.15608	0.667000	0.25112	-0.174000	0.10743	-0.316000	0.08728	AGA	-	NULL		0.572	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	protein_coding	OTTHUMT00000207401.1	A	NM_001535	-		48083355	1	no_errors	ENST00000458387	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	48083355	A	T	48083355	2	4	53	1	0	0	0	0	0	0	0	1	12542	291	11	5		5	PRMT2	21	48083355	Silent	SNP	A	TCGA-DX-A3UC-01A-11D-A307-09		48083355	46540	49	3014											
KDELR3	11015	genome.wustl.edu	37	chr22	38870538	38870538	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggccacaggcatctctggGaagagccagatcctgtttgc	12	11	1	2			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr22:38870538G>T	ENST00000216014.4	+	2	274	c.102G>T	c.(100-102)ggG>ggT	p.G34G	KDELR3_ENST00000409006.3_Silent_p.G34G|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	34					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)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GCATCTCTGGGAAGAGCCAGA	0.562																																					Ovarian(11;103 529 24120 28493 32980)												0								ENSG00000100196						176	134	148					22																	38870538		2203	4300	6503	KDELR3	SO:0001819	synonymous_variant	0			-	HGNC	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.102G>T	22.37:g.38870538G>T		Somatic	0	36	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP							pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2_TM_dom,prints_ER_ret_rcpt	p.G34	ENST00000216014.4	37	c.102	CCDS13972.1	22																																																																																			-	pfam_ER_ret_rcpt,prints_ER_ret_rcpt		0.562	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR3	protein_coding	OTTHUMT00000331474.1	G		-		38870538	1	no_errors	ENST00000409006	ensembl	human	known	74_37	silent	SNP	1.000	T	T	38870538	G	T	38870538	2	4	53	1	0	0	0	0	0	0	0	1	8123	1161	41	3		3	KDELR3	22	38870538	Silent	SNP	G	TCGA-DX-A3UC-01A-11D-A307-09		38870538	12434028	50	3015											
SREBF2	6721	genome.wustl.edu	37	chr22	42276780	42276780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcagttttgggccgggcaCtgcccacctcccgcctggac	13	16	0	0			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chr22:42276780C>A	ENST00000361204.4	+	10	1988	c.1822C>A	c.(1822-1824)Ctg>Atg	p.L608M		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	608					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						GGGCCGGGCACTGCCCACCTC	0.587																																																	0								ENSG00000198911						48	53	51					22																	42276780		2203	4300	6503	SREBF2	SO:0001583	missense	0			-	HGNC	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.1822C>A	22.37:g.42276780C>A	ENSP00000354476:p.Leu608Met	Somatic	0	61	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	49	27.94	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L608M	ENST00000361204.4	37	c.1822	CCDS14023.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.14|19.14	3.769467|3.769467	0.69992|0.69992	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000361204;ENST00000457567|ENST00000444813	T|.	0.29655|.	1.56|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65322|0.65322	0.2680|0.2680	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.53312|.	0.959|.	P|.	0.47744|.	0.556|.	T|T	0.68697|0.68697	-0.5340|-0.5340	10|6	0.51188|0.87932	T|D	0.08|0	-12.7337|-12.7337	11.654|11.654	0.51306|0.51306	0.0:0.918:0.0:0.082|0.0:0.918:0.0:0.082	.|.	608|.	Q12772|.	SRBP2_HUMAN|.	M|N	608|641	ENSP00000354476:L608M|.	ENSP00000354476:L608M|ENSP00000395728:T641N	L|T	+|+	1|2	2|0	SREBF2|SREBF2	40606726|40606726	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.862000|0.862000	0.49288|0.49288	4.935000|4.935000	0.63498|0.63498	2.292000|2.292000	0.77174|0.77174	0.478000|0.478000	0.44815|0.44815	CTG|ACT	-	NULL		0.587	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	protein_coding	OTTHUMT00000321956.1	C	NM_004599	-		42276780	1	no_errors	ENST00000361204	ensembl	human	known	74_37	missense	SNP	0.999	A	A	42276780	C	A	42276780	3	1	53	1	0	0	0	0	1	0	0	0	15149	564	20	3	1860	3	SREBF2	22	42276780	Missense_Mutation	SNP	C	TCGA-DX-A3UC-01A-11D-A307-09	3406242	42276780	9027786	51	3016											
PTCHD1	139411	genome.wustl.edu	37	chrX	23397790	23397790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtatcctgaataatgAtaagacttgcatcgtggatg	9	5	0	3			TCGA-DX-A3UC-01A-11D-A307-09	TCGA-DX-A3UC-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	165d4951-6e01-49de-b97d-8037f6767a3b	c782c030-10d3-460e-bcbd-154a26efae01	g.chrX:23397790A>G	ENST00000379361.4	+	2	1294	c.434A>G	c.(433-435)gAt>gGt	p.D145G		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	145					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGAATAATGATAAGACTTGC	0.448																																																	0								ENSG00000165186						85	76	79					X																	23397790		2203	4300	6503	PTCHD1	SO:0001583	missense	0			-	HGNC	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.434A>G	X.37:g.23397790A>G	ENSP00000368666:p.Asp145Gly	Somatic	0	44	0		0.706860007313899				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	90	22.41	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.D145G	ENST00000379361.4	37	c.434	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604104	0.28534	.	.	ENSG00000165186	ENST00000379361	D	0.86366	-2.11	5.06	5.06	0.68205	.	0.175286	0.51477	D	0.000088	T	0.73528	0.3598	N	0.17082	0.46	0.39163	D	0.96244	B;B	0.29862	0.259;0.05	B;B	0.23716	0.041;0.048	T	0.71849	-0.4468	10	0.02654	T	1	.	14.135	0.65281	1.0:0.0:0.0:0.0	.	40;145	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	G	145	ENSP00000368666:D145G	ENSP00000368666:D145G	D	+	2	0	PTCHD1	23307711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.579000	0.74036	1.983000	0.57843	0.486000	0.48141	GAT	-	pfam_Patched		0.448	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	protein_coding	OTTHUMT00000056047.2	A	NM_173495	-		23397790	1	no_errors	ENST00000379361	ensembl	human	known	74_37	missense	SNP	1.000	G	G	23397790	A	G	23397790	3	3	53	1	0	0	0	0	1	0	0	0	12737	333	12	5	440	5	PTCHD1	23	23397790	Missense_Mutation	SNP	A	TCGA-DX-A3UC-01A-11D-A307-09		23397790	131872770	52	3017											
CAMTA1	23261	genome.wustl.edu	37	chr1	6885151	6885151	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttattgttttcttctttgtaGatgatcatgggaacagcaat	8	5	3	2			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr1:6885151G>A	ENST00000303635.7	+	3	322		c.e3-1		CAMTA1_ENST00000476163.1_Splice_Site|CAMTA1_ENST00000467404.2_Splice_Site|CAMTA1_ENST00000473578.1_Splice_Site|CAMTA1_ENST00000557126.1_Splice_Site|CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CTTCTTTGTAGATGATCATGG	0.328			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								ENSG00000171735						53	57	55					1																	6885151		2203	4299	6502	CAMTA1	SO:0001630	splice_region_variant	0			-	HGNC	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.116-1G>A	1.37:g.6885151G>A		Somatic	0	44	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	18	58.14	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP							-	e3-1	ENST00000303635.7	37	c.116-1	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168702	0.78339	.	.	ENSG00000171735	ENST00000303635;ENST00000473578;ENST00000557126;ENST00000467404;ENST00000439411	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5894	0.95501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	6807738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.516000	0.81772	2.878000	0.98634	0.650000	0.86243	.	-	-		0.328	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	G	NM_015215	-	Intron	6885151	1	no_errors	ENST00000303635	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	6885151	G	A	6885151	5	1	54	1	0	0	0	0	0	0	1	0	2615	956	33	2	125	2	CAMTA1	1	6885151	Splice_Site	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		6885151	242365470	1	3018											
C1orf105	92346	genome.wustl.edu	37	chr1	172425565	172425565	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctcaggccaggaggaAccagtgtgactccatgctgc	11	14	1	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr1:172425565A>T	ENST00000367727.4	+	4	407	c.209A>T	c.(208-210)aAc>aTc	p.N70I	C1orf105_ENST00000367725.4_Missense_Mutation_p.N60I|C1orf105_ENST00000367726.1_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	70										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GCCAGGAGGAACCAGTGTGAC	0.527																																																	0								ENSG00000180999						128	124	125					1																	172425565		2203	4300	6503	C1orf105	SO:0001583	missense	0			-	HGNC	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.209A>T	1.37:g.172425565A>T	ENSP00000356700:p.Asn70Ile	Somatic	0	77	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	117	14.60	Q8IY02	Missense_Mutation	SNP							NULL	p.N70I	ENST00000367727.4	37	c.209	CCDS1301.1	1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665103	0.29604	.	.	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	T;T;T	0.32515	1.45;1.45;1.45	3.4	-0.7	0.11273	.	0.734628	0.11665	N	0.541479	T	0.02688	0.0081	N	0.11560	0.145	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.40459	-0.9562	10	0.07990	T	0.79	0.2255	0.2484	0.00202	0.3902:0.227:0.1614:0.2213	.	70	O95561	CA105_HUMAN	I	70;41;60	ENSP00000356700:N70I;ENSP00000431442:N41I;ENSP00000356698:N60I	ENSP00000356698:N60I	N	+	2	0	C1orf105	170692188	0.000000	0.05858	0.005000	0.12908	0.205000	0.24178	-0.581000	0.05820	-0.131000	0.11578	0.482000	0.46254	AAC	-	NULL		0.527	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	protein_coding	OTTHUMT00000084062.2	A	NM_139240	-		172425565	1	no_errors	ENST00000367727	ensembl	human	known	74_37	missense	SNP	0.008	T	T	172425565	A	T	172425565	3	4	54	1	0	0	0	0	1	0	0	0	1981	43	2	5	223	5	C1orf105	1	172425565	Missense_Mutation	SNP	A	TCGA-DX-A3UD-01A-11D-A307-09	165540414	172425565	76825056	2	3019											
NCOA1	8648	genome.wustl.edu	37	chr2	24888732	24888732	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaaaaccagacaaatgcaaGattttgaagaaaacagtcga	8	6	0	4			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr2:24888732G>T	ENST00000406961.1	+	6	856	c.204G>T	c.(202-204)aaG>aaT	p.K68N	NCOA1_ENST00000405141.1_Missense_Mutation_p.K68N|NCOA1_ENST00000288599.5_Missense_Mutation_p.K68N|NCOA1_ENST00000395856.3_Missense_Mutation_p.K68N|NCOA1_ENST00000538539.1_Missense_Mutation_p.K68N|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000348332.3_Missense_Mutation_p.K68N			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	68	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAATGCAAGATTTTGAAGA	0.363			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								ENSG00000084676						130	135	133					2																	24888732		2203	4300	6503	NCOA1	SO:0001583	missense	0			-	HGNC	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.204G>T	2.37:g.24888732G>T	ENSP00000385216:p.Lys68Asn	Somatic	0	42	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP							pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.K68N	ENST00000406961.1	37	c.204	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608902	0.66558	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.9	3.98	0.46160	Helix-loop-helix DNA-binding (4);	0.106321	0.64402	D	0.000005	D	0.96405	0.8827	L	0.36672	1.1	0.46823	D	0.999214	D;D;P	0.62365	0.991;0.958;0.942	P;P;P	0.59595	0.86;0.671;0.754	D	0.95982	0.8978	10	0.54805	T	0.06	.	11.8792	0.52564	0.091:0.0:0.909:0.0	.	68;68;68	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	N	68	ENSP00000385216:K68N;ENSP00000385097:K68N;ENSP00000444039:K68N;ENSP00000320940:K68N;ENSP00000288599:K68N;ENSP00000379197:K68N	ENSP00000288599:K68N	K	+	3	2	NCOA1	24742236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.901000	0.39838	1.327000	0.45338	0.655000	0.94253	AAG	-	superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom		0.363	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	protein_coding	OTTHUMT00000246852.3	G	NM_147223	-		24888732	1	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24888732	G	T	24888732	3	4	54	1	0	0	0	0	1	0	0	0	10230	933	33	3	210	3	NCOA1	2	24888732	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		24888732	218310641	3	3020											
MTMR14	64419	genome.wustl.edu	37	chr3	9743521	9743521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggctgcaggaggtgcgctCagccttcttggctgcgtaca	14	12	2	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr3:9743521C>T	ENST00000296003.4	+	19	1939	c.1817C>T	c.(1816-1818)tCa>tTa	p.S606L	MTMR14_ENST00000420925.1_Missense_Mutation_p.S248L|MTMR14_ENST00000353332.5_Missense_Mutation_p.S554L|CPNE9_ENST00000383831.3_5'Flank|CPNE9_ENST00000383832.3_5'Flank|MTMR14_ENST00000351233.5_Missense_Mutation_p.S494L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	606					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GAGGTGCGCTCAGCCTTCTTG	0.612																																																	0								ENSG00000163719						45	51	49					3																	9743521		1970	4149	6119	MTMR14	SO:0001583	missense	0			-	HGNC	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1817C>T	3.37:g.9743521C>T	ENSP00000296003:p.Ser606Leu	Somatic	0	91	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	80	19.80	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP							NULL	p.S606L	ENST00000296003.4	37	c.1817	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697056	0.68386	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233	D	0.97404	-4.37	5.4	4.52	0.55395	.	0.174796	0.51477	D	0.000096	D	0.95281	0.8469	L	0.48642	1.525	0.27264	N	0.958555	B;B;P;B	0.40083	0.1;0.001;0.702;0.376	B;B;B;B	0.39904	0.054;0.005;0.313;0.115	D	0.90463	0.4447	10	0.52906	T	0.07	-5.3031	16.2775	0.82651	0.0:0.8675:0.1325:0.0	.	248;494;554;606	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	L	554;248;606;494	ENSP00000401993:S248L	ENSP00000296003:S606L	S	+	2	0	MTMR14	9718521	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	4.502000	0.60400	1.252000	0.44001	0.561000	0.74099	TCA	-	NULL		0.612	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	protein_coding	OTTHUMT00000338435.1	C	NM_022485	-		9743521	1	no_errors	ENST00000296003	ensembl	human	known	74_37	missense	SNP	0.979	T	T	9743521	C	T	9743521	3	4	54	1	0	0	0	0	1	0	0	0	9944	838	29	2	1891	2	MTMR14	3	9743521	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		9743521	188278909	4	3021											
SCN5A	6331	genome.wustl.edu	37	chr3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaagatgaggcagaCgaggaggacgttcatgatgg	17	6	1	5	rs199473605		TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGAGGCAGACGAGGAGGACG	0.577																																																	0								ENSG00000183873						112	106	108					3																	38601865		2203	4300	6503	SCN5A	SO:0001583	missense	0			-	HGNC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile	Somatic	0	56	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V1340I	ENST00000333535.4	37	c.4018	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC	-	pfam_Ion_trans_dom		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	C	NM_198056	rs199473605		38601865	-1	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38601865	C	T	38601865	3	4	54	1	0	0	0	0	1	0	0	0	13930	536	19	1	2056	1	SCN5A	3	38601865	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09	28858344	38601865	159420565	5	3022											
PRKCI	5584	genome.wustl.edu	37	chr3	169988342	169988342	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggcggcattcttTgccacaggtaagatgtctgt	13	7	2	2			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr3:169988342T>A	ENST00000295797.4	+	6	889	c.584T>A	c.(583-585)tTg>tAg	p.L195*		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	195	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CGGCATTCTTTGCCACAGGTA	0.408																																																	0								ENSG00000163558						89	81	84					3																	169988342		2203	4300	6503	PRKCI	SO:0001587	stop_gained	0			-	HGNC		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.584T>A	3.37:g.169988342T>A	ENSP00000295797:p.Leu195*	Somatic	0	19	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	D3DNQ4|Q8WW06	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L195*	ENST00000295797.4	37	c.584	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	T	35	5.594106	0.96602	.	.	ENSG00000163558	ENST00000295797	.	.	.	5.41	5.41	0.78517	.	0.175903	0.46145	D	0.000314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7199	0.77700	0.0:0.0:0.0:1.0	.	.	.	.	X	195	.	.	L	+	2	0	PRKCI	171471036	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	7.264000	0.78432	2.175000	0.68902	0.482000	0.46254	TTG	-	pirsf_PKC_zeta		0.408	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	protein_coding	OTTHUMT00000316866.3	T	NM_002740	-		169988342	1	no_errors	ENST00000295797	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	169988342	T	A	169988342	4	1	54	1	0	0	0	0	0	1	0	0	12519	1821	63	5	606	5	PRKCI	3	169988342	Nonsense_Mutation	SNP	T	TCGA-DX-A3UD-01A-11D-A307-09	131386477	169988342	28034088	6	3023											
MCCC1	56922	genome.wustl.edu	37	chr3	182759436	182759436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgggcctgccacaggcaTgaagttattgctaggatctt	11	8	1	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr3:182759436T>C	ENST00000265594.4	-	11	1332	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V	MCCC1_ENST00000539926.1_Missense_Mutation_p.M261V|MCCC1_ENST00000492597.1_Missense_Mutation_p.M287V	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	396	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|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)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GCCACAGGCATGAAGTTATTG	0.478																																																	0								ENSG00000078070						148	146	147					3																	182759436		2203	4300	6503	MCCC1	SO:0001583	missense	0			-	HGNC	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1186A>G	3.37:g.182759436T>C	ENSP00000265594:p.Met396Val	Somatic	0	139	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	52	46.39	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP							pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.M396V	ENST00000265594.4	37	c.1186	CCDS3241.1	3	.	.	.	.	.	.	.	.	.	.	T	6.745	0.506308	0.12883	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.45	2.93	0.34026	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.086756	0.85682	D	0.000000	T	0.75347	0.3837	L	0.55834	1.745	0.46317	D	0.998989	B;B;B	0.22604	0.064;0.071;0.072	B;B;B	0.29353	0.078;0.078;0.101	T	0.72204	-0.4361	10	0.59425	D	0.04	.	8.6266	0.33892	0.1188:0.0:0.2481:0.633	.	349;287;396	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	V	396;287;246;261;349;349	ENSP00000265594:M396V;ENSP00000419898:M287V;ENSP00000441253:M261V;ENSP00000420433:M349V	ENSP00000265594:M396V	M	-	1	0	MCCC1	184242130	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	1.629000	0.37071	0.889000	0.36185	-0.429000	0.05907	ATG	-	pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom		0.478	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	protein_coding	OTTHUMT00000350775.1	T	NM_020166	-		182759436	-1	no_errors	ENST00000265594	ensembl	human	known	74_37	missense	SNP	1.000	C	C	182759436	T	C	182759436	3	2	54	1	0	0	0	0	1	0	0	0	9376	1464	51	5	1027	5	MCCC1	3	182759436	Missense_Mutation	SNP	T	TCGA-DX-A3UD-01A-11D-A307-09	12771094	182759436	15262994	7	3024											
MUC20	200958	genome.wustl.edu	37	chr3	195453048	195453053	+	In_Frame_Del	DEL	TTAGCA	TTAGCA	-													cagtggagctctggtcacagTtagcaggaatccccttgaag					rs368952817		TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	TTAGCA	TTAGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr3:195453048_195453053delTTAGCA	ENST00000447234.2	+	2	1700_1705	c.1574_1579delTTAGCA	c.(1573-1581)gttagcagg>ggg	p.525_527VSR>G	MUC20_ENST00000320736.6_In_Frame_Del_p.354_356VSR>G|MUC20_ENST00000436408.1_In_Frame_Del_p.525_527VSR>G|MUC20_ENST00000445522.2_In_Frame_Del_p.490_492VSR>G	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	525	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.	VTVSR -> ATG (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTGGTCACAGTTAGCAGGAATCCCCT	0.578																																																	0								ENSG00000176945																																			MUC20	SO:0001651	inframe_deletion	0				HGNC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1574_1579delTTAGCA	3.37:g.195453048_195453053delTTAGCA	ENSP00000414350:p.Val525_Arg527delinsGly	Somatic					0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	In_Frame_Del	DEL							NULL	p.VSR525in_frame_delG	ENST00000447234.2	37	c.1574_1579		3																																																																																			-	NULL		0.578	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	protein_coding	OTTHUMT00000341835.1	TTAGCA	NM_152673			195453053	1	no_errors	ENST00000447234	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-	-	195453053	TTAGCA	-	195453048	7	5	54	1	0	1	0	1	0	0	0	0	9978	1725	60	0	1071	0	MUC20	3	195453048	In_Frame_Del	DEL	TTAGCA	TCGA-DX-A3UD-01A-11D-A307-09	12693612	195453048	2569382	8	3025											
KIT	3815	genome.wustl.edu	37	chr4	55599285	55599285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctccttactcatggtcGgatcacaaagatttgtgatt	7	9	2	2			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr4:55599285G>A	ENST00000288135.5	+	17	2508	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q		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	804	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	ACTCATGGTCGGATCACAAAG	0.373		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																														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								ENSG00000157404						125	125	125					4																	55599285		2203	4300	6503	KIT	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)	-	HGNC	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.2411G>A	4.37:g.55599285G>A	ENSP00000288135:p.Arg804Gln	Somatic	0	98	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	22	61.40	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R804Q	ENST00000288135.5	37	c.2411	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.142808	0.94560	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.89123	-2.47;-2.47	5.62	4.78	0.61160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.89210	0.6650	N	0.16201	0.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91076	0.4896	10	0.72032	D	0.01	.	14.4845	0.67606	0.0706:0.0:0.9294:0.0	.	800;804	P10721-2;P10721	.;KIT_HUMAN	Q	804;800	ENSP00000288135:R804Q;ENSP00000390987:R800Q	ENSP00000288135:R804Q	R	+	2	0	KIT	55294042	1.000000	0.71417	0.955000	0.39395	0.990000	0.78478	7.901000	0.87382	1.392000	0.46585	0.585000	0.79938	CGG	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.373	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G		-		55599285	1	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55599285	G	A	55599285	3	1	54	1	0	0	0	0	1	0	0	0	8331	1116	39	1	2477	1	KIT	4	55599285	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		55599285	135554991	9	3026											
GRM6	2916	genome.wustl.edu	37	chr5	178413152	178413152	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggaggtgaggctgaaGgtgatgaccagctgtgaggt	19	5	0	5			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr5:178413152G>T	ENST00000517717.1	-	9	2141	c.2103C>A	c.(2101-2103)acC>acA	p.T701T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.T701T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	701					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		TGAGGCTGAAGGTGATGACCA	0.617																																																	0								ENSG00000113262						43	50	48					5																	178413152		2203	4300	6503	GRM6	SO:0001819	synonymous_variant	0			-	HGNC	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2103C>A	5.37:g.178413152G>T		Somatic	0	60	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	35	62.37		Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.T701	ENST00000517717.1	37	c.2103	CCDS4442.1	5																																																																																			-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.617	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	protein_coding	OTTHUMT00000253474.2	G		-		178413152	-1	no_errors	ENST00000231188	ensembl	human	known	74_37	silent	SNP	1.000	T	T	178413152	G	T	178413152	2	4	54	1	0	0	0	0	0	0	0	1	6803	987	35	3		3	GRM6	5	178413152	Silent	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		178413152	2502108	10	3027											
RGS17	26575	genome.wustl.edu	37	chr6	153365122	153365122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgagacacggcaggtgttCcttcattttgggactgctgc	12	10	1	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr6:153365122C>T	ENST00000367225.2	-	1	56	c.32G>A	c.(31-33)gGa>gAa	p.G11E	RGS17_ENST00000206262.1_Missense_Mutation_p.G11E			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	11					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GGCAGGTGTTCCTTCATTTTG	0.448																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												0								ENSG00000091844						164	165	165					6																	153365122		2203	4300	6503	RGS17	SO:0001583	missense	0			-	HGNC	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.32G>A	6.37:g.153365122C>T	ENSP00000356194:p.Gly11Glu	Somatic	0	64	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	53	15.87	Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G11E	ENST00000367225.2	37	c.32	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344821	0.11126	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.39056	1.1;1.1	5.15	2.24	0.28232	.	0.858989	0.10390	N	0.680549	T	0.05593	0.0147	N	0.04148	-0.265	0.43942	D	0.996602	B	0.02656	0.0	B	0.06405	0.002	T	0.44967	-0.9293	10	0.02654	T	1	1.3009	8.1217	0.30976	0.0:0.6679:0.0:0.3321	.	11	Q9UGC6	RGS17_HUMAN	E	11	ENSP00000356194:G11E;ENSP00000206262:G11E	ENSP00000206262:G11E	G	-	2	0	RGS17	153406815	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	2.446000	0.44908	0.142000	0.18901	0.305000	0.20034	GGA	-	NULL		0.448	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	protein_coding	OTTHUMT00000042773.2	C		-		153365122	-1	no_errors	ENST00000206262	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153365122	C	T	153365122	3	4	54	1	0	0	0	0	1	0	0	0	13307	855	30	2	616	2	RGS17	6	153365122	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		153365122	17749945	11	3028											
FKBP6	8468	genome.wustl.edu	37	chr7	72755324	72755324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggattttctagttcgagCccagaaggagcaacccttca	10	12	2	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr7:72755324C>T	ENST00000252037.4	+	7	905	c.836C>T	c.(835-837)gCc>gTc	p.A279V	FKBP6_ENST00000413573.2_Missense_Mutation_p.A249V|RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.A274V	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	279					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGTTCGAGCCCAGAAGGAG	0.453																																																	0								ENSG00000077800						140	137	138					7																	72755324		1888	4117	6005	FKBP6	SO:0001583	missense	0			-	HGNC	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.836C>T	7.37:g.72755324C>T	ENSP00000252037:p.Ala279Val	Somatic	0	90	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	26.67	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.A279V	ENST00000252037.4	37	c.836	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251418	0.80135	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.88017	0.2766	10	0.26408	T	0.33	-14.9277	15.0114	0.71552	0.0:1.0:0.0:0.0	.	274;279;249	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	V	274;234;249;279	ENSP00000416277:A274V;ENSP00000402360:A234V;ENSP00000394952:A249V;ENSP00000252037:A279V	ENSP00000252037:A279V	A	+	2	0	FKBP6	72393260	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	5.484000	0.66844	2.212000	0.71576	0.563000	0.77884	GCC	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.453	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	protein_coding	OTTHUMT00000318723.1	C	NM_003602	-		72755324	1	no_errors	ENST00000252037	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72755324	C	T	72755324	3	4	54	1	0	0	0	0	1	0	0	0	5914	739	26	2	908	2	FKBP6	7	72755324	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		72755324	86383339	12	3029											
KIAA1549	57670	genome.wustl.edu	37	chr7	138596018	138596018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggatattgccgtgtaaaCgaaaggaccggatgttacca	12	8	0	0	rs376801932		TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr7:138596018C>T	ENST00000422774.1	-	4	3067	c.3019G>A	c.(3019-3021)Gtt>Att	p.V1007I	KIAA1549_ENST00000242365.4_Missense_Mutation_p.V957I|KIAA1549_ENST00000440172.1_Missense_Mutation_p.V1007I			Q9HCM3	K1549_HUMAN	KIAA1549	1007						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCGTGTAAACGAAAGGACCG	0.388			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778	C	ILE/VAL,ILE/VAL	0,3728		0,0,1864	68	67	67		3019,3019	3.2	0.6	7		67	1,8205		0,1,4102	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	29,29	0,1,5966	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	1007/1951,1007/1935	138596018	1,11933	1864	4103	5967	KIAA1549	SO:0001583	missense	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3019G>A	7.37:g.138596018C>T	ENSP00000416040:p.Val1007Ile	Somatic	0	57	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	14	63.16	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.V1007I	ENST00000422774.1	37	c.3019	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974200	0.18736	0.0	1.22E-4	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.38722	1.12;1.14;1.13	5.23	3.17	0.36434	.	0.181870	0.35151	N	0.003402	T	0.29783	0.0744	N	0.24115	0.695	0.40342	D	0.979049	B;B	0.32526	0.257;0.374	B;B	0.32342	0.068;0.144	T	0.18681	-1.0329	10	0.72032	D	0.01	.	12.5313	0.56117	0.0:0.8771:0.0:0.1229	.	1007;1007	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	I	1007;957;1007	ENSP00000406661:V1007I;ENSP00000242365:V957I;ENSP00000416040:V1007I	ENSP00000242365:V957I	V	-	1	0	KIAA1549	138246558	0.179000	0.23135	0.571000	0.28486	0.201000	0.24016	0.673000	0.25203	0.705000	0.31890	0.655000	0.94253	GTT	-	NULL		0.388	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	C		-		138596018	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	0.688	T	T	138596018	C	T	138596018	3	4	54	1	0	0	0	0	1	0	0	0	8246	536	19	1	2901	1	KIAA1549	7	138596018	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09	65840694	138596018	20542645	13	3030											
OR2F2	135948	genome.wustl.edu	37	chr7	143632973	143632973	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgcctggttctgttGtcctacatccggatcatctc	7	14	4	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr7:143632973G>C	ENST00000408955.2	+	1	715	c.648G>C	c.(646-648)ttG>ttC	p.L216F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGGTTCTGTTGTCCTACATCC	0.527																																																	0								ENSG00000221910						202	179	187					7																	143632973		2203	4300	6503	OR2F2	SO:0001583	missense	0			-	HGNC		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.648G>C	7.37:g.143632973G>C	ENSP00000386222:p.Leu216Phe	Somatic	0	111	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	43	32.81	A4D2G0|Q6IFP8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L216F	ENST00000408955.2	37	c.648	CCDS43666.1	7	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041187	0.02013	.	.	ENSG00000221910	ENST00000408955	T	0.36340	1.26	3.49	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	N	0.001034	T	0.15912	0.0383	N	0.04880	-0.145	0.09310	N	1	B	0.16166	0.016	B	0.28784	0.094	T	0.20306	-1.0279	10	0.26408	T	0.33	-6.6393	5.1721	0.15116	0.1271:0.417:0.4559:0.0	.	216	O95006	OR2F2_HUMAN	F	216	ENSP00000386222:L216F	ENSP00000386222:L216F	L	+	3	2	OR2F2	143263906	0.000000	0.05858	0.945000	0.38365	0.622000	0.37654	-0.638000	0.05452	0.230000	0.21059	0.491000	0.48974	TTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F2	protein_coding	OTTHUMT00000349570.1	G		-		143632973	1	no_errors	ENST00000408955	ensembl	human	known	74_37	missense	SNP	0.019	C	C	143632973	G	C	143632973	3	2	54	1	0	0	0	0	1	0	0	0	10999	1368	48	4	650	4	OR2F2	7	143632973	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09	5036955	143632973	15505690	14	3031											
CDCA2	157313	genome.wustl.edu	37	chr8	25364178	25364178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcttatataaaaagtTcctcatcgcttggcaatgct	6	10	3	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr8:25364178T>C	ENST00000330560.3	+	15	2473	c.1996T>C	c.(1996-1998)Tcc>Ccc	p.S666P	CDCA2_ENST00000380665.3_Missense_Mutation_p.S651P|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	666					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATAAAAAGTTCCTCATCGCT	0.313																																																	0								ENSG00000184661						65	69	68					8																	25364178		2203	4300	6503	CDCA2	SO:0001583	missense	0			-	HGNC	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1996T>C	8.37:g.25364178T>C	ENSP00000328228:p.Ser666Pro	Somatic	0	53	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP							NULL	p.S666P	ENST00000330560.3	37	c.1996	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634992	0.47049	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.46063	0.88;0.88	5.18	-0.0718	0.13742	.	0.636597	0.15004	N	0.285978	T	0.27765	0.0683	L	0.48642	1.525	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.23150	0.044;0.044	T	0.21415	-1.0246	10	0.40728	T	0.16	-2.0523	0.4334	0.00475	0.1757:0.2223:0.205:0.397	.	651;666	E9PEI0;Q69YH5	.;CDCA2_HUMAN	P	666;651;65	ENSP00000328228:S666P;ENSP00000370040:S651P	ENSP00000328228:S666P	S	+	1	0	CDCA2	25420095	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.334000	0.07883	0.107000	0.17824	0.528000	0.53228	TCC	-	NULL		0.313	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	protein_coding	OTTHUMT00000216891.3	T	NM_152562	-		25364178	1	no_errors	ENST00000330560	ensembl	human	known	74_37	missense	SNP	0.000	C	C	25364178	T	C	25364178	3	2	54	1	0	0	0	0	1	0	0	0	3088	1783	62	5	2050	5	CDCA2	8	25364178	Missense_Mutation	SNP	T	TCGA-DX-A3UD-01A-11D-A307-09		25364178	120999844	15	3032											
TIAL1	7073	genome.wustl.edu	37	chr10	121337184	121337184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcaattcctccacagtaCacagtacaattttttggact	6	11	0	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr10:121337184C>T	ENST00000436547.2	-	8	665	c.621G>A	c.(619-621)gtG>gtA	p.V207V	TIAL1_ENST00000369093.2_Silent_p.V224V|TIAL1_ENST00000369092.4_Silent_p.V84V|TIAL1_ENST00000463089.2_5'Flank	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	207	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCACAGTACACAGTACAAT	0.373																																																	0								ENSG00000151923						144	131	135					10																	121337184		2203	4300	6503	TIAL1	SO:0001819	synonymous_variant	0			-	HGNC	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.621G>A	10.37:g.121337184C>T		Somatic	0	35	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	A8K3T0|A8K4L9	Silent	SNP							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.V224	ENST00000436547.2	37	c.672	CCDS7613.1	10																																																																																			-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.373	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	protein_coding	OTTHUMT00000050672.2	C	NM_022333, NM_003252	-		121337184	-1	no_errors	ENST00000369093	ensembl	human	known	74_37	silent	SNP	0.999	T	T	121337184	C	T	121337184	2	4	54	1	0	0	0	0	0	0	0	1	15896	465	17	2		2	TIAL1	10	121337184	Silent	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		121337184	14197563	16	3033											
PPFIBP1	8496	genome.wustl.edu	37	chr12	27820219	27820219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagtaatgggatctcccaGttgtgacccatttaacacaa	7	11	1	1	rs371077704		TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr12:27820219G>T	ENST00000318304.8	+	13	1446	c.1163G>T	c.(1162-1164)aGt>aTt	p.S388I	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.S357I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.S235I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.S371I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	388					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGATCTCCCAGTTGTGACCCA	0.423																																																	0								ENSG00000110841	G	ILE/SER,ILE/SER,ILE/SER,ILE/SER	0,4406		0,0,2203	123	108	113		704,1070,1112,1163	3.4	0.6	12		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	142,142,142,142	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	235/859,357/981,371/1006,388/1012	27820219	1,13005	2203	4300	6503	PPFIBP1	SO:0001583	missense	0			-	HGNC	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1163G>T	12.37:g.27820219G>T	ENSP00000314724:p.Ser388Ile	Somatic	0	73	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S388I	ENST00000318304.8	37	c.1163	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	G	6.349	0.432424	0.12045	0.0	1.16E-4	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425;ENST00000537261	T;T;T;T;T	0.31247	1.5;1.51;1.92;1.92;1.91	5.26	3.4	0.38934	.	0.392698	0.18410	U	0.142091	T	0.19046	0.0457	N	0.24115	0.695	0.23435	N	0.997682	B;B;B;B	0.12013	0.001;0.001;0.005;0.002	B;B;B;B	0.16289	0.008;0.006;0.015;0.006	T	0.07424	-1.0773	10	0.33940	T	0.23	-4.17	9.0216	0.36204	0.1967:0.0:0.8033:0.0	.	235;388;371;357	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	I	219;235;388;357;371;73	ENSP00000444304:S219I;ENSP00000445425:S235I;ENSP00000314724:S388I;ENSP00000443442:S357I;ENSP00000228425:S371I	ENSP00000228425:S371I	S	+	2	0	PPFIBP1	27711486	0.057000	0.20700	0.569000	0.28460	0.089000	0.18198	1.457000	0.35212	2.461000	0.83175	0.650000	0.86243	AGT	-	NULL		0.423	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	protein_coding	OTTHUMT00000402877.1	G	NM_003622	-		27820219	1	no_errors	ENST00000318304	ensembl	human	known	74_37	missense	SNP	0.348	T	T	27820219	G	T	27820219	3	4	54	1	0	0	0	0	1	0	0	0	12315	1029	36	3	1196	3	PPFIBP1	12	27820219	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		27820219	106031676	17	3034											
KIAA1409	57578	genome.wustl.edu	37	chr14	94004450	94004450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgccactcaaatcatcacaGtaatgaagtgggggccgctg	12	10	3	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr14:94004450G>C	ENST00000393151.2	+	12	1238	c.1238G>C	c.(1237-1239)aGt>aCt	p.S413T	UNC79_ENST00000256339.4_Missense_Mutation_p.S236T|UNC79_ENST00000555664.1_Missense_Mutation_p.S413T|UNC79_ENST00000553484.1_Missense_Mutation_p.S413T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	413					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATCATCACAGTAATGAAGTG	0.587																																																	0								ENSG00000133958						65	61	62					14																	94004450		2203	4300	6503	UNC79	SO:0001583	missense	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1238G>C	14.37:g.94004450G>C	ENSP00000376858:p.Ser413Thr	Somatic	0	27	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B5MDL6|Q6ZUT7	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.S413T	ENST00000393151.2	37	c.1238		14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971156	0.74246	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.20780	0.0500	L	0.36672	1.1	0.53688	D	0.999975	P;B	0.36837	0.571;0.341	B;B	0.33454	0.164;0.117	T	0.01945	-1.1242	10	0.59425	D	0.04	-16.6381	19.9698	0.97280	0.0:0.0:1.0:0.0	.	413;413	C9JQL1;Q9P2D8	.;UNC79_HUMAN	T	236;413;413;413;413	ENSP00000256339:S236T;ENSP00000450868:S413T;ENSP00000451360:S413T;ENSP00000376858:S413T	ENSP00000256339:S236T	S	+	2	0	KIAA1409	93074203	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	6.314000	0.72848	2.786000	0.95864	0.561000	0.74099	AGT	-	NULL		0.587	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	G	XM_028395	-		94004450	1	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	SNP	1.000	C	C	94004450	G	C	94004450	3	2	54	1	0	0	0	0	1	0	0	0	8232	1029	36	4	741	4	KIAA1409	14	94004450	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		94004450	13345090	18	3035											
SHC4	399694	genome.wustl.edu	37	chr15	49176558	49176558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgttgataggaacttaaCtggaggctttaaaaattaaa	9	4	0	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr15:49176558C>T	ENST00000332408.4	-	4	1155	c.727G>A	c.(727-729)Gtt>Att	p.V243I		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	243	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AGGAACTTAACTGGAGGCTTT	0.294																																																	0								ENSG00000185634						81	82	82					15																	49176558		2196	4295	6491	SHC4	SO:0001583	missense	0			-	HGNC	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.727G>A	15.37:g.49176558C>T	ENSP00000329668:p.Val243Ile	Somatic	0	41	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.V243I	ENST00000332408.4	37	c.727	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914868	0.52546	.	.	ENSG00000185634	ENST00000332408	T	0.13657	2.57	5.14	4.2	0.49525	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.283387	0.29529	N	0.011890	T	0.09818	0.0241	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.29440	0.102	T	0.17048	-1.0382	10	0.51188	T	0.08	-15.7159	15.238	0.73447	0.0:0.8587:0.1413:0.0	.	243	Q6S5L8	SHC4_HUMAN	I	243	ENSP00000329668:V243I	ENSP00000329668:V243I	V	-	1	0	SHC4	46963850	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.818000	0.39012	1.354000	0.45846	0.655000	0.94253	GTT	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.294	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	protein_coding	OTTHUMT00000254371.1	C	NM_203349	-		49176558	-1	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49176558	C	T	49176558	3	4	54	1	0	0	0	0	1	0	0	0	14281	565	20	2	1201	2	SHC4	15	49176558	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		49176558	53354834	19	3036											
AP3B2	8120	genome.wustl.edu	37	chr15	83357916	83357916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtagtgctcacctctatGttcttacaggccacgttctt	8	12	4	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr15:83357916G>T	ENST00000261722.3	-	3	465	c.258C>A	c.(256-258)aaC>aaA	p.N86K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000561455.1_5'UTR|AP3B2_ENST00000535359.1_Missense_Mutation_p.N86K|AP3B2_ENST00000542200.1_Missense_Mutation_p.N86K|AP3B2_ENST00000535348.1_Missense_Mutation_p.N86K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	86					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCACCTCTATGTTCTTACAGG	0.567																																																	0								ENSG00000103723						65	66	66					15																	83357916		2013	4172	6185	AP3B2	SO:0001583	missense	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.258C>A	15.37:g.83357916G>T	ENSP00000261722:p.Asn86Lys	Somatic	0	50	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.N86K	ENST00000261722.3	37	c.258	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023458	0.93462	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693;ENST00000542200;ENST00000535513	T;T;T;T;T	0.25250	2.5;1.81;2.5;2.5;2.5	5.96	5.05	0.67936	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.92459	3.31	0.80722	D	1	P;D;D;D	0.76494	0.893;0.999;0.988;0.971	B;D;P;P	0.83275	0.394;0.996;0.893;0.838	T	0.71882	-0.4458	10	0.66056	D	0.02	-38.4332	15.1267	0.72489	0.0675:0.0:0.9325:0.0	.	86;86;86;86	F5H0E6;B7ZKR7;B7ZKS0;Q13367	.;.;.;AP3B2_HUMAN	K	86;86;86;42;86;86	ENSP00000261722:N86K;ENSP00000438721:N86K;ENSP00000440984:N86K;ENSP00000441961:N42K;ENSP00000440719:N86K	ENSP00000261722:N86K	N	-	3	2	AP3B2	81154970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.103000	0.57783	1.524000	0.49035	0.655000	0.94253	AAC	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.567	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	G		-		83357916	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83357916	G	T	83357916	3	4	54	1	0	0	0	0	1	0	0	0	745	1368	48	3	3010	3	AP3B2	15	83357916	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09	34181358	83357916	19173476	20	3037											
DPH1	1801	genome.wustl.edu	37	chr17	1939349	1939349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacagcgagggccctgggaGctgacttcttggtgcactac	13	12	2	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr17:1939349G>T	ENST00000263083.6	+	4	424	c.379G>T	c.(379-381)Gct>Tct	p.A127S	DPH1_ENST00000570477.1_Missense_Mutation_p.A47S|DPH1_ENST00000576891.2_3'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	127					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCCCTGGGAGCTGACTTCTT	0.637																																																	0								ENSG00000108963						101	113	109					17																	1939349		2175	4254	6429	DPH1	SO:0001583	missense	0			-	HGNC	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.379G>T	17.37:g.1939349G>T	ENSP00000263083:p.Ala127Ser	Somatic	0	102	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	56	41.84	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP							pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2	p.A127S	ENST00000263083.6	37	c.379	CCDS42228.1	17	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497865	0.64186	.	.	ENSG00000108963	ENST00000263083	T	0.51071	0.72	5.25	4.27	0.50696	.	0.113243	0.64402	D	0.000013	T	0.58090	0.2098	M	0.66439	2.03	0.43857	D	0.996452	P;B;B	0.36125	0.538;0.395;0.066	P;B;B	0.46718	0.525;0.283;0.264	T	0.62849	-0.6767	10	0.72032	D	0.01	-0.3105	14.6913	0.69087	0.0:0.1459:0.8541:0.0	.	137;137;127	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	S	127	ENSP00000263083:A127S	ENSP00000263083:A127S	A	+	1	0	DPH1	1886099	1.000000	0.71417	0.802000	0.32245	0.900000	0.52787	9.711000	0.98735	1.201000	0.43203	0.455000	0.32223	GCT	-	pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2		0.637	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH1	protein_coding	OTTHUMT00000438660.1	G	NM_001383	-		1939349	1	no_errors	ENST00000263083	ensembl	human	known	74_37	missense	SNP	0.998	T	T	1939349	G	T	1939349	3	4	54	1	0	0	0	0	1	0	0	0	4721	971	34	3	393	3	DPH1	17	1939349	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		1939349	79255861	21	3038											
BCAS3	54828	genome.wustl.edu	37	chr17	58979998	58979998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttgattcgatgtcatcaGtcccgtggtggagcctgtgg	14	9	2	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr17:58979998G>T	ENST00000390652.5	+	11	787	c.756G>T	c.(754-756)caG>caT	p.Q252H	RN7SL448P_ENST00000475566.2_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q252H|BCAS3_ENST00000589222.1_Missense_Mutation_p.Q252H|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q252H|BCAS3_ENST00000585744.1_Missense_Mutation_p.Q23H|BCAS3_ENST00000588874.1_Missense_Mutation_p.Q23H|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q252H	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATGTCATCAGTCCCGTGGTG	0.423																																																	0								ENSG00000141376						203	193	196					17																	58979998		1933	4157	6090	BCAS3	SO:0001583	missense	0			-	HGNC	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.756G>T	17.37:g.58979998G>T	ENSP00000375067:p.Gln252His	Somatic	0	36	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76		Missense_Mutation	SNP							pfam_BCAS3,pfam_WD40_repeat	p.Q252H	ENST00000390652.5	37	c.756	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444920	0.63178	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000405217	T;T;T	0.35048	1.35;1.33;1.34	5.85	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.72894	2.215	0.53688	D	0.999973	D;P;P;D	0.76494	0.999;0.828;0.736;0.994	D;P;B;D	0.76575	0.922;0.471;0.28;0.988	T	0.55976	-0.8055	10	0.40728	T	0.16	.	11.3078	0.49345	0.1509:0.0:0.8491:0.0	.	57;252;252;252	Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;BCAS3_HUMAN;.	H	252;252;252;252;57	ENSP00000375067:Q252H;ENSP00000385323:Q252H;ENSP00000386173:Q252H	ENSP00000375067:Q252H	Q	+	3	2	BCAS3	56334780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.195000	0.51013	1.413000	0.46997	0.491000	0.48974	CAG	-	NULL		0.423	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	protein_coding	OTTHUMT00000449578.1	G	NM_017679	-		58979998	1	no_errors	ENST00000390652	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58979998	G	T	58979998	3	4	54	1	0	0	0	0	1	0	0	0	1352	1020	36	3	794	3	BCAS3	17	58979998	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09	57040649	58979998	22215212	22	3039											
LAMA1	284217	genome.wustl.edu	37	chr18	7026019	7026019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggcgcagggctggcaGtccccaggtgtccctcggga	18	13	0	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr18:7026019G>T	ENST00000389658.3	-	17	2454	c.2361C>A	c.(2359-2361)gaC>gaA	p.D787E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	787	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)				AGGGCTGGCAGTCCCCAGGTG	0.637																																																	0								ENSG00000101680						47	38	41					18																	7026019		2203	4300	6503	LAMA1	SO:0001583	missense	0			-	HGNC	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.2361C>A	18.37:g.7026019G>T	ENSP00000374309:p.Asp787Glu	Somatic	0	48	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25		Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D787E	ENST00000389658.3	37	c.2361	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191603	0.78902	.	.	ENSG00000101680	ENST00000389658	T	0.61158	0.13	5.35	2.61	0.31194	EGF-like, laminin (4);	0.151803	0.41001	U	0.000971	T	0.74023	0.3662	M	0.89287	3.02	0.43039	D	0.99462	D	0.62365	0.991	D	0.64776	0.929	T	0.72704	-0.4213	10	0.49607	T	0.09	.	8.2121	0.31490	0.3104:0.0:0.6896:0.0	.	787	P25391	LAMA1_HUMAN	E	787	ENSP00000374309:D787E	ENSP00000374309:D787E	D	-	3	2	LAMA1	7016019	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	4.652000	0.61454	0.248000	0.21435	0.563000	0.77884	GAC	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.637	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559	-		7026019	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7026019	G	T	7026019	3	4	54	1	0	0	0	0	1	0	0	0	8607	1020	36	3	7054	3	LAMA1	18	7026019	Missense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		7026019	71051229	23	3040											
DSG3	1830	genome.wustl.edu	37	chr18	29040795	29040795	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattttttatccaaaattaGcaagctagcagctatcgtct	5	8	1	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr18:29040795G>T	ENST00000257189.4	+	7	767		c.e7-1			NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCAAAATTAGCAAGCTAGCA	0.323																																																	0								ENSG00000134757						53	51	52					18																	29040795		2203	4300	6503	DSG3	SO:0001630	splice_region_variant	0			-	HGNC	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.685-1G>T	18.37:g.29040795G>T		Somatic	0	66	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	39	51.85	A8K2V2	Splice_Site	SNP							-	e7-1	ENST00000257189.4	37	c.685-1	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101998	0.37048	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0065	0.92852	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG3	27294793	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	6.321000	0.72881	2.651000	0.90000	0.585000	0.79938	.	-	-		0.323	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	protein_coding	OTTHUMT00000254949.1	G	NM_001944	-	Intron	29040795	1	no_errors	ENST00000257189	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	29040795	G	T	29040795	5	4	54	1	0	0	0	0	0	0	1	0	4780	985	34	3	710	3	DSG3	18	29040795	Splice_Site	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09	22014776	29040795	49036453	24	3041											
PSTPIP2	9050	genome.wustl.edu	37	chr18	43573597	43573597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggtgacacattgttgtgAcagctgattcacatgtaacc	9	9	1	3			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr18:43573597A>G	ENST00000409746.5	-	10	786	c.715T>C	c.(715-717)Tca>Cca	p.S239P	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.S239P	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	239						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CATTGTTGTGACAGCTGATTC	0.403																																																	0								ENSG00000152229						172	126	141					18																	43573597		2203	4300	6503	PSTPIP2	SO:0001583	missense	0			-	HGNC		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.715T>C	18.37:g.43573597A>G	ENSP00000387261:p.Ser239Pro	Somatic	0	38	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11		Missense_Mutation	SNP							pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.S239P	ENST00000409746.5	37	c.715	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471429	0.84533	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.49720	0.77	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.89214	3.015	0.39027	D	0.959865	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.80872	-0.1188	10	0.87932	D	0	.	14.73	0.69374	1.0:0.0:0.0:0.0	.	239;239	Q9H939-2;Q9H939	.;PPIP2_HUMAN	P	239	ENSP00000387261:S239P	ENSP00000353189:S239P	S	-	1	0	PSTPIP2	41827595	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.698000	0.74608	2.124000	0.65301	0.460000	0.39030	TCA	-	NULL		0.403	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	protein_coding	OTTHUMT00000327522.1	A		-		43573597	-1	no_errors	ENST00000409746	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43573597	A	G	43573597	3	3	54	1	0	0	0	0	1	0	0	0	12727	275	10	5	309	5	PSTPIP2	18	43573597	Missense_Mutation	SNP	A	TCGA-DX-A3UD-01A-11D-A307-09	14532802	43573597	34503651	25	3042											
C19orf44	84167	genome.wustl.edu	37	chr19	16620577	16620586	+	Frame_Shift_Del	DEL	GAAAACTCTC	GAAAACTCTC	-													cagcttattcggaggattttGaaaactctccaagtctgaca							TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	GAAAACTCTC	GAAAACTCTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr19:16620577_16620586delGAAAACTCTC	ENST00000221671.3	+	5	1573_1582	c.1417_1426delGAAAACTCTC	c.(1417-1428)gaaaactctccafs	p.ENSP473fs	C19orf44_ENST00000594035.1_Frame_Shift_Del_p.ENSP473fs|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	473										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGAGGATTTTGAAAACTCTCCAAGTCTGAC	0.519																																																	0								ENSG00000105072																																			C19orf44	SO:0001589	frameshift_variant	0				HGNC	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1417_1426delGAAAACTCTC	19.37:g.16620577_16620586delGAAAACTCTC	ENSP00000221671:p.Glu473fs	Somatic					0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8N6Y7	Frame_Shift_Del	DEL							NULL	p.E473fs	ENST00000221671.3	37	c.1417_1426	CCDS12345.1	19																																																																																			-	NULL		0.519	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	protein_coding	OTTHUMT00000461218.1	GAAAACTCTC	NM_032207			16620586	1	no_errors	ENST00000221671	ensembl	human	known	74_37	frame_shift_del	DEL	0.852:0.769:0.114:0.003:0.000:0.000:0.003:0.003:0.000:0.000	-	-	16620586	GAAAACTCTC	-	16620577	7	5	54	1	0	1	0	1	0	0	0	0	1929	1291	45	0	1431	0	C19orf44	19	16620577	Frame_Shift_Del	DEL	GAAAACTCTC	TCGA-DX-A3UD-01A-11D-A307-09		16620577	42508406	26	3043											
PRX	57716	genome.wustl.edu	37	chr19	40913828	40913828	+	Frame_Shift_Del	DEL	C	C	-													ctcacctcggcactccggctCctggcctccatggcgttgct							TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr19:40913828delC	ENST00000324001.7	-	4	282	c.12delG	c.(10-12)aggfs	p.R4fs	PRX_ENST00000599513.1_5'UTR|PRX_ENST00000291825.7_Frame_Shift_Del_p.R4fs	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	4					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)			CACTCCGGCTCCTGGCCTCCA	0.627																																																	0								ENSG00000105227						60	50	54					19																	40913828		2203	4300	6503	PRX	SO:0001589	frameshift_variant	0				HGNC	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.12delG	19.37:g.40913828delC	ENSP00000326018:p.Arg4fs	Somatic	0	49	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q9BXL9|Q9HCF2	Frame_Shift_Del	DEL							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S5fs	ENST00000324001.7	37	c.12	CCDS33028.1	19																																																																																			-	NULL		0.627	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	C	NM_020956			40913828	-1	no_errors	ENST00000324001	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	40913828	C	-	40913828	7	5	54	1	0	1	0	1	0	0	0	0	12647	854	30	0	4452	0	PRX	19	40913828	Frame_Shift_Del	DEL	C	TCGA-DX-A3UD-01A-11D-A307-09	24293251	40913828	18215155	27	3044											
OSCAR	126014	genome.wustl.edu	37	chr19	54598510	54598510	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggataccagcaggagcGcggttctgactgcgccagtc	16	12	1	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr19:54598510G>A	ENST00000284648.6	-	0	1479				OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Silent_p.R260R|OSCAR_ENST00000351806.4_Silent_p.R245R|OSCAR_ENST00000358375.4_Silent_p.R256R			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CAGCAGGAGCGCGGTTCTGAC	0.667																																																	0								ENSG00000170909						22	25	24					19																	54598510		2203	4300	6503	OSCAR	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.*433C>T	19.37:g.54598510G>A		Somatic	0	97	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP							smart_Ig_sub	p.R260	ENST00000284648.6	37	c.780		19																																																																																			-	NULL		0.667	OSCAR-001	NOVEL	basic	protein_coding	OSCAR	protein_coding	OTTHUMT00000139493.4	G	NM_133169	-		54598510	-1	no_errors	ENST00000356532	ensembl	human	known	74_37	silent	SNP	0.000	A	A	54598510	G	A	54598510	1	1	54	0	1	0	0	0	0	0	0	0	11287	1074	38	1		1	OSCAR	19	54598510	3'UTR	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09	13684682	54598510	4530473	28	3045											
KRTAP10-1	386677	genome.wustl.edu	37	chr21	45959750	45959750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcagcaggcctgctggCagggggaggaggtgcagcaa	19	10	0	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr21:45959750C>G	ENST00000400375.1	-	1	328	c.284G>C	c.(283-285)tGc>tCc	p.C95S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	95	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ggcctgctggcagggggagga	0.657																																																	0								ENSG00000215455						40	46	44					21																	45959750		2189	4278	6467	KRTAP10-1	SO:0001583	missense	0			-	HGNC	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.284G>C	21.37:g.45959750C>G	ENSP00000383226:p.Cys95Ser	Somatic	0	181	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	114	27.39	Q0VAR0|Q0VAR1	Missense_Mutation	SNP							NULL	p.C95S	ENST00000400375.1	37	c.284	CCDS42954.1	21	.	.	.	.	.	.	.	.	.	.	c	3.093	-0.186562	0.06340	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.02395	4.31	3.46	2.47	0.30058	.	.	.	.	.	T	0.16599	0.0399	M	0.89715	3.055	0.27619	N	0.948415	D	0.76494	0.999	D	0.67231	0.95	T	0.01537	-1.1330	9	0.87932	D	0	.	11.2345	0.48931	0.1829:0.8171:0.0:0.0	.	95	P60331	KR101_HUMAN	S	95	ENSP00000383226:C95S	ENSP00000383226:C95S	C	-	2	0	KRTAP10-1	44784178	1.000000	0.71417	0.990000	0.47175	0.109000	0.19521	0.807000	0.27140	1.946000	0.56461	0.491000	0.48974	TGC	-	NULL		0.657	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-1	protein_coding	OTTHUMT00000128030.1	C		-		45959750	-1	no_errors	ENST00000400375	ensembl	human	known	74_37	missense	SNP	0.996	G	G	45959750	C	G	45959750	3	3	54	1	0	0	0	0	1	0	0	0	8507	710	25	4	568	4	KRTAP10-1	21	45959750	Missense_Mutation	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		45959750	2170145	29	3046											
SGSM1	129049	genome.wustl.edu	37	chr22	25251313	25251313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcacttctggaccgatccCtcggctgacgaacttgtcca	9	14	2	1			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr22:25251313C>T	ENST00000400359.4	+	7	592	c.585C>T	c.(583-585)ccC>ccT	p.P195P	SGSM1_ENST00000400358.4_Silent_p.P195P	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	195						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGACCGATCCCTCGGCTGACG	0.632																																																	0								ENSG00000167037						31	34	33					22																	25251313		2084	4213	6297	SGSM1	SO:0001819	synonymous_variant	0			-	HGNC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.585C>T	22.37:g.25251313C>T		Somatic	0	40	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP							pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.P195	ENST00000400359.4	37	c.585	CCDS46674.1	22																																																																																			-	NULL		0.632	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	protein_coding	OTTHUMT00000320282.1	C	XM_059318	-		25251313	1	no_errors	ENST00000400359	ensembl	human	known	74_37	silent	SNP	0.987	T	T	25251313	C	T	25251313	2	4	54	1	0	0	0	0	0	0	0	1	14230	668	24	2		2	SGSM1	22	25251313	Silent	SNP	C	TCGA-DX-A3UD-01A-11D-A307-09		25251313	26053253	30	3047											
GRAP2	9402	genome.wustl.edu	37	chr22	40364152	40364153	+	Frame_Shift_Ins	INS	-	-	C													aaccggaagctgtcggatcaINSccccccgacccttcccctgc							TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr22:40364152_40364153insC	ENST00000344138.4	+	6	829_830	c.566_567insC	c.(565-570)caccccfs	p.HP189fs	GRAP2_ENST00000407075.3_Frame_Shift_Ins_p.HP189fs|GRAP2_ENST00000544756.1_Frame_Shift_Ins_p.HP117fs|GRAP2_ENST00000543252.1_Frame_Shift_Ins_p.HP149fs|GRAP2_ENST00000540310.1_Frame_Shift_Ins_p.HP123fs|GRAP2_ENST00000399090.2_Frame_Shift_Ins_p.HP76fs	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	189					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTGTCGGATCACCCCCCGACCC	0.663																																																	0								ENSG00000100351																																			GRAP2	SO:0001589	frameshift_variant	0				HGNC	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.572dupC	22.37:g.40364158_40364158dupC	ENSP00000339186:p.His189fs	Somatic	0	83	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	46	41.77	B7Z8I3|O43726|Q9NRB7	Frame_Shift_Ins	INS							pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.T192fs	ENST00000344138.4	37	c.566_567	CCDS13999.1	22																																																																																			-	NULL		0.663	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	protein_coding	OTTHUMT00000321295.1	-	NM_004810			40364153	1	no_errors	ENST00000344138	ensembl	human	known	74_37	frame_shift_ins	INS	0.872:0.397	C	C	40364153	-	C	40364152	7	5	54	1	0	1	1	0	0	0	0	0	6756	159	6	0	584	0	GRAP2	22	40364152	Frame_Shift_Ins	INS	-	TCGA-DX-A3UD-01A-11D-A307-09	15112839	40364152	10940414	31	3048											
PNPLA3	80339	genome.wustl.edu	37	chr22	44333049	44333049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccggagtcggctgccttGgctgtgaggctggagggaga	18	10	0	2	rs149395579	byFrequency	TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chr22:44333049G>A	ENST00000216180.3	+	6	1049	c.876G>A	c.(874-876)ttG>ttA	p.L292L	PNPLA3_ENST00000423180.2_Silent_p.L288L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	292					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CGGCTGCCTTGGCTGTGAGGC	0.612																																																	0								ENSG00000100344	G		2,4404	4.2+/-10.8	0,2,2201	104	83	90		876	1.6	0	22	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	PNPLA3	NM_025225.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		292/482	44333049	2,13004	2203	4300	6503	PNPLA3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.876G>A	22.37:g.44333049G>A		Somatic	0	81	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	27	54.24	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP							pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L292	ENST00000216180.3	37	c.876	CCDS14054.1	22																																																																																			-	NULL		0.612	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	protein_coding	OTTHUMT00000318891.1	G	NM_025225	rs149395579		44333049	1	no_errors	ENST00000216180	ensembl	human	known	74_37	silent	SNP	0.001	A	A	44333049	G	A	44333049	2	1	54	1	0	0	0	0	0	0	0	1	12168	1339	47	2		2	PNPLA3	22	44333049	Silent	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09	3968897	44333049	6971517	32	3049											
ATRX	546	genome.wustl.edu	37	chrX	76939418	76939418	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggtttttctccttttcGtgcttttgtttcaaacttag	6	8	2	0			TCGA-DX-A3UD-01A-11D-A307-09	TCGA-DX-A3UD-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46b055d-5534-4c00-85b6-a15ba4d62613	c788ed6d-2b8e-49ef-bef0-c44ee15b4d4c	g.chrX:76939418G>A	ENST00000373344.5	-	9	1544	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R406*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	444					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTCCTTTTCGTGCTTTTGTT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						146	136	140					X																	76939418		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1330C>T	X.37:g.76939418G>A	ENSP00000362441:p.Arg444*	Somatic	0	47	0		0.681222241208433				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	4	92.16	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R444*	ENST00000373344.5	37	c.1330	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	g	35	5.516759	0.96402	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.36	-0.278	0.12894	.	1.104670	0.07014	N	0.825688	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.0892	3.2237	0.06724	0.0903:0.212:0.1704:0.5272	.	.	.	.	X	444;406;400	.	ENSP00000362441:R444X	R	-	1	2	ATRX	76826074	0.030000	0.19436	0.817000	0.32601	0.946000	0.59487	1.207000	0.32333	-0.310000	0.08766	-0.330000	0.08379	CGA	-	NULL		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76939418	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	76939418	G	A	76939418	4	1	54	1	0	0	0	0	0	1	0	0	1208	1153	40	1	6256	1	ATRX	23	76939418	Nonsense_Mutation	SNP	G	TCGA-DX-A3UD-01A-11D-A307-09		76939418	78331142	33	3050											
NGF	4803	genome.wustl.edu	37	chr1	115828887	115828887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttgggtcccggcacttgGtctcaaaaaagtactgtttg	11	8	1	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:115828887G>T	ENST00000369512.2	-	3	698	c.530C>A	c.(529-531)aCc>aAc	p.T177N	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	177					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		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)	Clenbuterol(DB01407)	CCGGCACTTGGTCTCAAAAAA	0.512																																																	0								ENSG00000134259						122	112	116					1																	115828887		2203	4300	6503	NGF	SO:0001583	missense	0			-	HGNC		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.530C>A	1.37:g.115828887G>T	ENSP00000358525:p.Thr177Asn	Somatic	0	39	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	34	42.37	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP							pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.T177N	ENST00000369512.2	37	c.530	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345831	0.82022	.	.	ENSG00000134259	ENST00000369512	T	0.73363	-0.74	4.9	4.9	0.64082	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	-28.2626	17.1926	0.86883	0.0:0.0:1.0:0.0	.	177	P01138	NGF_HUMAN	N	177	ENSP00000358525:T177N	ENSP00000358525:T177N	T	-	2	0	NGF	115630410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.753000	0.98904	2.426000	0.82243	0.455000	0.32223	ACC	-	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel		0.512	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	protein_coding	OTTHUMT00000032832.1	G	NM_002506	-		115828887	-1	no_errors	ENST00000369512	ensembl	human	known	74_37	missense	SNP	1.000	T	T	115828887	G	T	115828887	3	4	55	1	0	0	0	0	1	0	0	0	10397	1261	44	3	199	3	NGF	1	115828887	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		115828887	133421734	1	3051											
ANP32E	81611	genome.wustl.edu	37	chr1	150199040	150199045	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-													cttcatcctcatcctcatccTcctcttcctcttcctcctcc					rs56692627|rs28594165|rs68136184|rs28460085	byFrequency	TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	TCCTCT	TCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:150199040_150199045delTCCTCT	ENST00000314136.8	-	5	945_950	c.576_581delAGAGGA	c.(574-582)gaagaggag>gag	p.192_194EEE>E	ANP32E_ENST00000369119.3_In_Frame_Del_p.144_146EEE>E|ANP32E_ENST00000533654.1_In_Frame_Del_p.KR137del|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_In_Frame_Del_p.60_62EEE>E|ANP32E_ENST00000436748.2_In_Frame_Del_p.151_153EEE>E|ANP32E_ENST00000369116.4_In_Frame_Del_p.60_62EEE>E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			atcctcatcctcctcttcctcttcct	0.437														1756	0.350639	0.1596	0.3559	5008	,	,		19419	0.5446		0.2753	False		,,,				2504	0.4826																0								ENSG00000143401		,,	627,3639		79,469,1585					,,	-6.5	0		dbSNP_130	261	1908,6340		294,1320,2510	no	coding,coding,coding	ANP32E	NM_030920.3,NM_001136479.1,NM_001136478.2	,,	373,1789,4095	A1A1,A1R,RR		23.1329,14.6976,20.2573	,,	,,		2535,9979				ANP32E	SO:0001651	inframe_deletion	0				HGNC	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576_581delAGAGGA	1.37:g.150199046_150199051delTCCTCT	ENSP00000324074:p.Glu192_Glu193del	Somatic					0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	In_Frame_Del	DEL							pfam_Leu-rich_rpt	p.EE193in_frame_del	ENST00000314136.8	37	c.581_576	CCDS946.1	1																																																																																			-	NULL		0.437	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32E	protein_coding	OTTHUMT00000035056.1	TCCTCT	NM_030920			150199045	-1	no_errors	ENST00000314136	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.006:0.000:0.058:0.106:0.091	-	-	150199045	TCCTCT	-	150199040	7	5	55	1	0	1	0	1	0	0	0	0	709	1551	54	0	237	0	ANP32E	1	150199040	In_Frame_Del	DEL	TCCTCT	TCGA-DX-A3UE-01A-11D-A307-09	34370153	150199040	99051581	2	3052											
FLG2	388698	genome.wustl.edu	37	chr1	152330046	152330046	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcatcaaaagaaactcAgtaaagtccaatcttctgtc	4	9	5	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:152330046A>C	ENST00000388718.5	-	3	288	c.216T>G	c.(214-216)acT>acG	p.T72T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	72	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGAAACTCAGTAAAGTCCA	0.443																																																	0								ENSG00000143520																																			FLG2	SO:0001819	synonymous_variant	0			-	HGNC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.216T>G	1.37:g.152330046A>C		Somatic	0	34	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	46	39.47	Q9H4U1	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.T72	ENST00000388718.5	37	c.216	CCDS30861.1	1																																																																																			-	pfscan_EF_hand_dom		0.443	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	A	NM_001014342	-		152330046	-1	no_errors	ENST00000388718	ensembl	human	known	74_37	silent	SNP	0.992	C	C	152330046	A	C	152330046	2	2	55	1	0	0	0	0	0	0	0	1	5925	175	7	5		5	FLG2	1	152330046	Silent	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09	2131006	152330046	96920575	3	3053											
CRNN	49860	genome.wustl.edu	37	chr1	152382389	152382389	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcctcagggttgctcActtgcatccatctttgacca	7	15	3	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:152382389A>T	ENST00000271835.3	-	3	1231	c.1169T>A	c.(1168-1170)gTg>gAg	p.V390E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	390					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGGTTGCTCACTTGCATCCA	0.597																																																	0								ENSG00000143536						128	108	115					1																	152382389		2203	4300	6503	CRNN	SO:0001583	missense	0			-	HGNC	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1169T>A	1.37:g.152382389A>T	ENSP00000271835:p.Val390Glu	Somatic	0	48	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	122	11.59	B2RE60|Q8N613	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V390E	ENST00000271835.3	37	c.1169	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	A	5.180	0.218805	0.09810	.	.	ENSG00000143536	ENST00000271835	T	0.03745	3.82	4.72	-0.447	0.12234	.	0.150909	0.30809	N	0.008826	T	0.00754	0.0025	L	0.31476	0.935	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46938	-0.9155	10	0.54805	T	0.06	.	0.9549	0.01383	0.4127:0.1674:0.0959:0.324	.	390	Q9UBG3	CRNN_HUMAN	E	390	ENSP00000271835:V390E	ENSP00000271835:V390E	V	-	2	0	CRNN	150649013	0.000000	0.05858	0.014000	0.15608	0.034000	0.12701	-1.007000	0.03667	0.280000	0.22209	-0.386000	0.06593	GTG	-	NULL		0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	protein_coding	OTTHUMT00000034503.1	A	NM_016190	-		152382389	-1	no_errors	ENST00000271835	ensembl	human	known	74_37	missense	SNP	0.002	T	T	152382389	A	T	152382389	3	4	55	1	0	0	0	0	1	0	0	0	3894	159	6	5	322	5	CRNN	1	152382389	Missense_Mutation	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09	52343	152382389	96868232	4	3054											
LOR	4014	genome.wustl.edu	37	chr1	153233506	153233506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggtggcggtggcggCggcagcggcggtggtggctg	26	9	0	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:153233506C>T	ENST00000368742.3	+	2	138	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	27					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G27G(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggtggcggcggcagcggcg	0.682																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000203782						8	10	9					1																	153233506		2045	4027	6072	LOR	SO:0001819	synonymous_variant	0			-	HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.81C>T	1.37:g.153233506C>T		Somatic	0	17	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	Q5T869|Q5XKF8	Silent	SNP							NULL	p.G27	ENST00000368742.3	37	c.81	CCDS30870.1	1																																																																																			-	NULL		0.682	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	C	NM_000427	-		153233506	1	no_errors	ENST00000368742	ensembl	human	known	74_37	silent	SNP	0.000	T	T	153233506	C	T	153233506	2	4	55	1	0	0	0	0	0	0	0	1	8899	755	27	1		1	LOR	1	153233506	Silent	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	851117	153233506	96017115	5	3055											
CRB1	23418	genome.wustl.edu	37	chr1	197398724	197398724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggagcccagtgccagcCggtgcttcaaggatttgaat	12	11	2	1	rs77334581		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:197398724C>T	ENST00000367400.3	+	8	2957	c.2822C>T	c.(2821-2823)cCg>cTg	p.P941L	CRB1_ENST00000535699.1_Missense_Mutation_p.P917L|CRB1_ENST00000367397.1_Missense_Mutation_p.P322L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.P422L|CRB1_ENST00000367399.2_Missense_Mutation_p.P829L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	941	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						CAGTGCCAGCCGGTGCTTCAA	0.507													C|||	1	0.000199681	0	0	5008	,	,		17368	0.001		0	False		,,,				2504	0																0								ENSG00000134376						91	79	83					1																	197398724		2203	4300	6503	CRB1	SO:0001583	missense	0			GMAF=0.0005	HGNC		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.2822C>T	1.37:g.197398724C>T	ENSP00000356370:p.Pro941Leu	Somatic	0	41	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	56	32.53	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P941L	ENST00000367400.3	37	c.2822	CCDS1390.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.860	-0.236376	0.05944	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.55	-4.81	0.03180	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.50360	0.1611	N	0.00358	-1.6	0.20403	N	0.99991	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	0.48514	-0.9029	9	0.41790	T	0.15	.	3.7125	0.08425	0.1084:0.3876:0.1201:0.3839	.	917;829;590;941	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	917;941;829;422;322;590	ENSP00000438786:P917L;ENSP00000356370:P941L;ENSP00000356369:P829L;ENSP00000444556:P422L;ENSP00000356367:P322L	ENSP00000356367:P322L	P	+	2	0	CRB1	195665347	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	-0.006000	0.12833	-1.193000	0.02688	-1.202000	0.01658	CCG	-	NULL		0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	C	NM_201253	rs77334581		197398724	1	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	SNP	0.009	T	T	197398724	C	T	197398724	3	4	55	1	0	0	0	0	1	0	0	0	3850	652	23	1	2852	1	CRB1	1	197398724	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	44165218	197398724	51851897	6	3056											
PCNXL2	80003	genome.wustl.edu	37	chr1	233122167	233122167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctcgtgcactgaggTggacgtctggaggaatgttt	16	8	1	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr1:233122167T>C	ENST00000258229.9	-	33	6145	c.5911A>G	c.(5911-5913)Acc>Gcc	p.T1971A	PCNXL2_ENST00000344698.2_Missense_Mutation_p.T623A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1971	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCACTGAGGTGGACGTCTGG	0.662																																																	0								ENSG00000135749						20	27	24					1																	233122167		2049	4184	6233	PCNXL2	SO:0001583	missense	0			-	HGNC	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5911A>G	1.37:g.233122167T>C	ENSP00000258229:p.Thr1971Ala	Somatic	0	40	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	68	32.35	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP							pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.T1971A	ENST00000258229.9	37	c.5911	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737513	0.30774	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.25250	1.81;2.99	5.85	-2.92	0.05615	.	0.421931	0.26016	N	0.026845	T	0.23886	0.0578	M	0.65975	2.015	0.80722	D	1	B;B	0.28378	0.209;0.204	B;B	0.33521	0.116;0.165	T	0.02625	-1.1132	10	0.41790	T	0.15	.	7.9038	0.29750	0.5221:0.0585:0.0:0.4194	.	1971;623	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	A	623;1971	ENSP00000340759:T623A;ENSP00000258229:T1971A	ENSP00000258229:T1971A	T	-	1	0	PCNXL2	231188790	1.000000	0.71417	0.504000	0.27639	0.151000	0.21798	0.921000	0.28718	-0.833000	0.04245	-0.516000	0.04426	ACC	-	NULL		0.662	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	T	NM_014801	-		233122167	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	SNP	0.935	C	C	233122167	T	C	233122167	3	2	55	1	0	0	0	0	1	0	0	0	11594	1696	59	5	510	5	PCNXL2	1	233122167	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	35723443	233122167	16128454	7	3057											
DNAH7	56171	genome.wustl.edu	37	chr2	196689122	196689122	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggtttgttttagtagaaGaggttccaaaataggatcta	10	3	1	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr2:196689122G>T	ENST00000312428.6	-	49	9248	c.9148C>A	c.(9148-9150)Ctt>Att	p.L3050I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3050	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTAGTAGAAGAGGTTCCAAA	0.363																																																	0								ENSG00000118997						137	129	132					2																	196689122		1832	4083	5915	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9148C>A	2.37:g.196689122G>T	ENSP00000311273:p.Leu3050Ile	Somatic	0	50	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L3050I	ENST00000312428.6	37	c.9148	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	1.651	-0.514037	0.04200	.	.	ENSG00000118997	ENST00000312428	T	0.26373	1.74	4.97	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.20483	0.58	0.80722	D	1	B	0.27286	0.174	B	0.38225	0.268	T	0.03394	-1.1041	10	0.06236	T	0.91	.	11.2046	0.48762	0.1505:0.0:0.8495:0.0	.	3050	Q8WXX0	DYH7_HUMAN	I	3050	ENSP00000311273:L3050I	ENSP00000311273:L3050I	L	-	1	0	DNAH7	196397367	0.995000	0.38212	0.995000	0.50966	0.032000	0.12392	2.157000	0.42320	0.808000	0.34231	-0.142000	0.14014	CTT	-	NULL		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	G	NM_018897	-		196689122	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196689122	G	T	196689122	3	4	55	1	0	0	0	0	1	0	0	0	4608	942	33	3	2994	3	DNAH7	2	196689122	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		196689122	46510251	8	3058											
TUBA4A	7277	genome.wustl.edu	37	chr2	220116779	220116779	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcccggggtacgtgtttTccagcaccagtttcacagaa	10	12	1	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr2:220116779T>C	ENST00000248437.4	-	2	350	c.177A>G	c.(175-177)ggA>ggG	p.G59G	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_Intron|TUBA4A_ENST00000392088.2_Silent_p.G44G	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	59					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GTACGTGTTTTCCAGCACCAG	0.532																																																	0								ENSG00000127824						94	79	84					2																	220116779		2203	4300	6503	TUBA4A	SO:0001819	synonymous_variant	0			-	HGNC	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.177A>G	2.37:g.220116779T>C		Somatic	0	47	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	42	46.84	A8MUB1|B3KNQ6|P05215	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.G59	ENST00000248437.4	37	c.177	CCDS2438.1	2																																																																																			-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.532	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA4A	protein_coding	OTTHUMT00000256816.3	T	NM_006000	-		220116779	-1	no_errors	ENST00000248437	ensembl	human	known	74_37	silent	SNP	0.987	C	C	220116779	T	C	220116779	2	2	55	1	0	0	0	0	0	0	0	1	16756	1770	62	5		5	TUBA4A	2	220116779	Silent	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	23427657	220116779	23082594	9	3059											
UGT1A5	54579	genome.wustl.edu	37	chr2	234622417	234622417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggctgttccgaggggaCtttgtgatggattaccccag	15	8	0	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr2:234622417C>T	ENST00000373414.3	+	1	780	c.780C>T	c.(778-780)gaC>gaT	p.D260D	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.D260D|UGT1A9_ENST00000354728.4_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	260						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TCCGAGGGGACTTTGTGATGG	0.522																																																	0								ENSG00000240224						145	154	151					2																	234622417		2203	4299	6502	UGT1A5	SO:0001819	synonymous_variant	0			-	HGNC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.780C>T	2.37:g.234622417C>T		Somatic	0	75	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	103	37.95	B8K294	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D260	ENST00000373414.3	37	c.780	CCDS33404.1	2																																																																																			-	pfam_UDP_glucos_trans		0.522	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	protein_coding	OTTHUMT00000130985.1	C	NM_019078	-		234622417	1	no_errors	ENST00000373414	ensembl	human	known	74_37	silent	SNP	1.000	T	T	234622417	C	T	234622417	2	4	55	1	0	0	0	0	0	0	0	1	16955	564	20	2		2	UGT1A5	2	234622417	Silent	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	14505638	234622417	8576956	10	3060											
VIPR1	7433	genome.wustl.edu	37	chr3	42573303	42573303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtctgctcaggtgctgggAcaccatcaactcctcactgt	10	14	4	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr3:42573303A>G	ENST00000325123.4	+	9	973	c.860A>G	c.(859-861)gAc>gGc	p.D287G	VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.D239G|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.D77G|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.D246G	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	287					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)			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)		AGGTGCTGGGACACCATCAAC	0.582																																																	0								ENSG00000114812						143	124	130					3																	42573303		2203	4300	6503	VIPR1	SO:0001583	missense	0			-	HGNC	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.860A>G	3.37:g.42573303A>G	ENSP00000327246:p.Asp287Gly	Somatic	0	49	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	38	41.79	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.D287G	ENST00000325123.4	37	c.860	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833582	0.71258	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.07	5.07	0.68467	GPCR, family 2-like (1);	0.111129	0.64402	D	0.000017	T	0.62636	0.2444	M	0.65975	2.015	0.58432	D	0.999994	D;D;D;D	0.76494	0.996;0.995;0.989;0.999	D;D;P;D	0.75484	0.976;0.97;0.834;0.986	T	0.67027	-0.5774	10	0.87932	D	0	.	14.8443	0.70249	1.0:0.0:0.0:0.0	.	260;77;239;287	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	G	246;239;77;287	ENSP00000394950:D246G;ENSP00000445701:D239G;ENSP00000415371:D77G;ENSP00000327246:D287G	ENSP00000327246:D287G	D	+	2	0	VIPR1	42548307	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	7.470000	0.80973	1.909000	0.55274	0.533000	0.62120	GAC	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.582	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	protein_coding	OTTHUMT00000254728.4	A	NM_004624	-		42573303	1	no_errors	ENST00000325123	ensembl	human	known	74_37	missense	SNP	1.000	G	G	42573303	A	G	42573303	3	3	55	1	0	0	0	0	1	0	0	0	17176	275	10	5	894	5	VIPR1	3	42573303	Missense_Mutation	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09		42573303	155449127	11	3061											
SLC9A9	285195	genome.wustl.edu	37	chr3	143297459	143297459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcatacgcagaccccaTtgcaaatgagccagcgaaga	11	11	0	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr3:143297459T>C	ENST00000316549.6	-	7	1070	c.862A>G	c.(862-864)Atg>Gtg	p.M288V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	288					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGACCCCATTGCAAATGAG	0.458																																																	0								ENSG00000181804						112	107	108					3																	143297459		2203	4300	6503	SLC9A9	SO:0001583	missense	0			-	HGNC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.862A>G	3.37:g.143297459T>C	ENSP00000320246:p.Met288Val	Somatic	0	22	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP							pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.M288V	ENST00000316549.6	37	c.862	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959149	0.34565	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.13778	2.56	4.54	4.54	0.55810	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	N	0.05124	-0.11	0.44780	D	0.997789	B	0.23128	0.08	B	0.21917	0.037	T	0.32268	-0.9913	10	0.27785	T	0.31	.	14.1779	0.65555	0.0:0.0:0.0:1.0	.	288	Q8IVB4	SL9A9_HUMAN	V	288;171	ENSP00000320246:M288V	ENSP00000320246:M288V	M	-	1	0	SLC9A9	144780149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.556000	0.53734	1.813000	0.52934	0.533000	0.62120	ATG	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.458	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	protein_coding	OTTHUMT00000354994.1	T	NM_173653	-		143297459	-1	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	SNP	0.993	C	C	143297459	T	C	143297459	3	2	55	1	0	0	0	0	1	0	0	0	14729	1493	52	5	1115	5	SLC9A9	3	143297459	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	100724156	143297459	54724971	12	3062											
OTOL1	131149	genome.wustl.edu	37	chr3	161214858	161214858	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccactctctctccctttgAaaacttcactcttgacccag	4	16	4	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr3:161214858A>G	ENST00000327928.4	+	1	263	c.263A>G	c.(262-264)gAa>gGa	p.E88G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	88						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTCCCTTTGAAAACTTCACT	0.473																																																	0								ENSG00000182447						159	154	156					3																	161214858		1862	4104	5966	OTOL1	SO:0001583	missense	0			-	HGNC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.263A>G	3.37:g.161214858A>G	ENSP00000330808:p.Glu88Gly	Somatic	0	131	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	93	43.64		Missense_Mutation	SNP							pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.E88G	ENST00000327928.4	37	c.263	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372057	0.24857	.	.	ENSG00000182447	ENST00000327928	D	0.90900	-2.75	5.66	4.47	0.54385	.	0.206217	0.50627	D	0.000119	D	0.84275	0.5436	L	0.32530	0.975	0.31608	N	0.651875	B	0.12630	0.006	B	0.12156	0.007	T	0.79130	-0.1930	10	0.29301	T	0.29	.	11.0151	0.47685	0.8437:0.1563:0.0:0.0	.	88	A6NHN0	OTOL1_HUMAN	G	88	ENSP00000330808:E88G	ENSP00000330808:E88G	E	+	2	0	OTOL1	162697552	1.000000	0.71417	0.920000	0.36463	0.099000	0.18886	5.270000	0.65547	0.946000	0.37632	0.528000	0.53228	GAA	-	NULL		0.473	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	protein_coding	OTTHUMT00000353184.1	A	NM_001080440	-		161214858	1	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	SNP	0.998	G	G	161214858	A	G	161214858	3	3	55	1	0	0	0	0	1	0	0	0	11306	246	9	5	265	5	OTOL1	3	161214858	Missense_Mutation	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09	17917399	161214858	36807572	13	3063											
FGFBP1	9982	genome.wustl.edu	37	chr4	15938241	15938241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggagagcagggtgagGctacagatcttcatggctgc	16	7	2	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr4:15938241G>T	ENST00000382333.1	-	3	309	c.15C>A	c.(13-15)agC>agA	p.S5R	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5R	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	5					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GCAGGGTGAGGCTACAGATCT	0.537																																																	0								ENSG00000137440						46	47	46					4																	15938241		2077	4073	6150	FGFBP1	SO:0001583	missense	0			-	HGNC	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.15C>A	4.37:g.15938241G>T	ENSP00000371770:p.Ser5Arg	Somatic	0	35	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	6	84.21	A8K5J2	Missense_Mutation	SNP							pfam_FGF1-bd	p.S5R	ENST00000382333.1	37	c.15	CCDS3418.1	4	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007958	0.35415	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.18657	2.2;2.2	5.77	3.08	0.35506	.	0.781971	0.12707	N	0.445840	T	0.19208	0.0461	L	0.40543	1.245	0.22185	N	0.999303	P	0.40476	0.718	B	0.40009	0.316	T	0.08126	-1.0737	10	0.52906	T	0.07	-0.2955	9.6188	0.39708	0.2914:0.0:0.7086:0.0	.	5	Q14512	FGFP1_HUMAN	R	5	ENSP00000371770:S5R;ENSP00000259988:S5R	ENSP00000259988:S5R	S	-	3	2	FGFBP1	15547339	0.969000	0.33509	0.640000	0.29408	0.771000	0.43674	0.575000	0.23729	0.773000	0.33404	0.643000	0.83706	AGC	-	NULL		0.537	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP1	protein_coding	OTTHUMT00000214974.1	G	NM_005130	-		15938241	-1	no_errors	ENST00000259988	ensembl	human	known	74_37	missense	SNP	0.494	T	T	15938241	G	T	15938241	3	4	55	1	0	0	0	0	1	0	0	0	5862	1194	42	3	693	3	FGFBP1	4	15938241	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		15938241	175216035	14	3064											
SLC30A9	10463	genome.wustl.edu	37	chr4	42080286	42080286	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctttatgcttaaacatggaGaaaatattattgatacttta	5	5	0	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr4:42080286G>C	ENST00000264451.7	+	17	1786	c.1606G>C	c.(1606-1608)Gaa>Caa	p.E536Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	536					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E536*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAACATGGAGAAAATATTAT	0.284																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000014824						53	59	57					4																	42080286		2201	4298	6499	SLC30A9	SO:0001583	missense	0			-	HGNC	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1606G>C	4.37:g.42080286G>C	ENSP00000264451:p.Glu536Gln	Somatic	0	53	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP							pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.E536Q	ENST00000264451.7	37	c.1606	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982940	0.93044	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.32023	1.47	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74000	-0.3805	10	0.87932	D	0	-23.428	19.8737	0.96861	0.0:0.0:1.0:0.0	.	536	Q6PML9	ZNT9_HUMAN	Q	536;364	ENSP00000264451:E536Q	ENSP00000264451:E536Q	E	+	1	0	SLC30A9	41775043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.185000	0.94900	2.693000	0.91896	0.650000	0.86243	GAA	-	NULL		0.284	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	protein_coding	OTTHUMT00000216842.3	G		-		42080286	1	no_errors	ENST00000264451	ensembl	human	known	74_37	missense	SNP	1.000	C	C	42080286	G	C	42080286	3	2	55	1	0	0	0	0	1	0	0	0	14570	943	33	4	1672	4	SLC30A9	4	42080286	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	26142045	42080286	149073990	15	3065											
ACSL6	23305	genome.wustl.edu	37	chr5	131305834	131305834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctacctgaggtccagtcGccaggagtggtgaaggtaca	13	10	0	2	rs138919958		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr5:131305834G>A	ENST00000379240.1	-	15	1572	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	ACSL6_ENST00000379272.2_Silent_p.G488G|ACSL6_ENST00000379255.1_Silent_p.G398G|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000357096.1_Silent_p.G398G|ACSL6_ENST00000379249.3_Silent_p.G473G|ACSL6_ENST00000431707.1_Silent_p.G453G|ACSL6_ENST00000543479.1_Silent_p.G473G|ACSL6_ENST00000544770.1_Silent_p.G382G|ACSL6_ENST00000379244.1_Silent_p.G473G|ACSL6_ENST00000296869.4_Silent_p.G498G|ACSL6_ENST00000379246.1_Silent_p.G484G|ACSL6_ENST00000379264.2_Silent_p.G498G			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	473					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCCAGTCGCCAGGAGTGG	0.502													G|||	1	0.000199681	0	0	5008	,	,		19488	0.001		0	False		,,,				2504	0																0								ENSG00000164398	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	173	151	158		1494,1389,1419,1452,1194,1494	0.3	1	5	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACSL6	NM_001009185.2,NM_001205247.1,NM_001205248.1,NM_001205250.1,NM_001205251.1,NM_015256.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	498/723,463/688,473/698,484/709,398/623,498/723	131305834	1,13005	2203	4300	6503	ACSL6	SO:0001819	synonymous_variant	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1419C>T	5.37:g.131305834G>A		Somatic	0	39	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	43	41.33	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.G498	ENST00000379240.1	37	c.1494		5																																																																																			-	pfam_AMP-dep_Synth/Lig		0.502	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	G	NM_015256	rs138919958		131305834	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	silent	SNP	0.999	A	A	131305834	G	A	131305834	2	1	55	1	0	0	0	0	0	0	0	1	181	1074	38	1		1	ACSL6	5	131305834	Silent	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		131305834	49609426	16	3066											
ADRB2	154	genome.wustl.edu	37	chr5	148206526	148206526	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtcatgtctctcatcgtCctggccatcgtgtttggcaa	9	12	3	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr5:148206526C>T	ENST00000305988.4	+	1	371	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	44					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CTCTCATCGTCCTGGCCATCG	0.582																																																	0								ENSG00000169252						192	174	180					5																	148206526		2203	4300	6503	ADRB2	SO:0001819	synonymous_variant	0			-	HGNC	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.132C>T	5.37:g.148206526C>T		Somatic	0	29	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	34	47.69	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.V44	ENST00000305988.4	37	c.132	CCDS4292.1	5																																																																																			-	prints_GPCR_Rhodpsn		0.582	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	protein_coding	OTTHUMT00000252189.1	C	NM_000024	-		148206526	1	no_errors	ENST00000305988	ensembl	human	known	74_37	silent	SNP	0.998	T	T	148206526	C	T	148206526	2	4	55	1	0	0	0	0	0	0	0	1	341	842	30	2		2	ADRB2	5	148206526	Silent	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	16900692	148206526	32708734	17	3067											
AARS2	57505	genome.wustl.edu	37	chr6	44278041	44278041	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggcactcacctgctGtatggcgttgagcagcgggg	17	9	1	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr6:44278041G>A	ENST00000244571.4	-	5	891	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCACCTGCTGTATGGCGTTG	0.542																																																	0								ENSG00000124608						134	105	115					6																	44278041		2203	4300	6503	AARS2	SO:0001587	stop_gained	0			-	HGNC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.889C>T	6.37:g.44278041G>A	ENSP00000244571:p.Gln297*	Somatic	0	22	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	49	39.51		Nonsense_Mutation	SNP							pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.Q297*	ENST00000244571.4	37	c.889	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610390	0.87258	.	.	ENSG00000124608	ENST00000244571	.	.	.	4.72	3.86	0.44501	.	0.334072	0.34777	N	0.003687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.6499	8.7998	0.34901	0.0797:0.1501:0.7702:0.0	.	.	.	.	X	297	.	ENSP00000244571:Q297X	Q	-	1	0	AARS2	44386019	1.000000	0.71417	0.997000	0.53966	0.477000	0.33069	6.361000	0.73070	1.231000	0.43661	-0.140000	0.14226	CAG	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc		0.542	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	protein_coding	OTTHUMT00000040741.2	G	NM_020745	-		44278041	-1	no_errors	ENST00000244571	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	44278041	G	A	44278041	4	1	55	1	0	0	0	0	0	1	0	0	20	1386	48	2	2140	2	AARS2	6	44278041	Nonsense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		44278041	126837026	18	3068											
C6orf142	90523	genome.wustl.edu	37	chr6	53986337	53986337	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catactcagttggctgacacCtctaaattccttgttaaaat	5	10	2	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr6:53986337C>G	ENST00000274897.5	+	2	269	c.156C>G	c.(154-156)acC>acG	p.T52T	MLIP_ENST00000514921.1_Silent_p.T52T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Silent_p.T46T|MLIP_ENST00000502396.1_Silent_p.T63T	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	52						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGGCTGACACCTCTAAATTCC	0.378																																																	0								ENSG00000146147						101	100	100					6																	53986337		2203	4300	6503	MLIP	SO:0001819	synonymous_variant	0			-	HGNC	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.156C>G	6.37:g.53986337C>G		Somatic	0	33	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	30	41.18	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP							NULL	p.T52	ENST00000274897.5	37	c.156	CCDS4954.1	6																																																																																			-	NULL		0.378	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	protein_coding	OTTHUMT00000040979.3	C	NM_138569	-		53986337	1	no_errors	ENST00000274897	ensembl	human	known	74_37	silent	SNP	1.000	G	G	53986337	C	G	53986337	2	3	55	1	0	0	0	0	0	0	0	1	2335	668	24	4		4	C6orf142	6	53986337	Silent	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	9708296	53986337	117128730	19	3069											
ZNF786	136051	genome.wustl.edu	37	chr7	148771578	148771578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctctccatttcctgaagggCtctcccccgtgttcaatcca	6	16	3	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr7:148771578C>G	ENST00000491431.1	-	3	262	c.198G>C	c.(196-198)gaG>gaC	p.E66D	ZNF786_ENST00000316286.9_5'UTR|ZNF786_ENST00000451334.3_Missense_Mutation_p.E29D	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	66	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)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCCTGAAGGGCTCTCCCCCGT	0.433																																																	0								ENSG00000197362						113	105	107					7																	148771578		1883	4093	5976	ZNF786	SO:0001583	missense	0			-	HGNC	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.198G>C	7.37:g.148771578C>G	ENSP00000417470:p.Glu66Asp	Somatic	0	58	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	28	60.56	A1A568|B4DMI1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E66D	ENST00000491431.1	37	c.198	CCDS47738.1	7	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964527	0.53507	.	.	ENSG00000197362	ENST00000491431;ENST00000451334	T;T	0.11930	3.02;2.73	4.62	1.7	0.24286	Krueppel-associated box (2);	0.000000	0.38663	N	0.001602	T	0.08403	0.0209	L	0.33753	1.03	0.09310	N	0.999998	B	0.22080	0.064	B	0.17979	0.02	T	0.22695	-1.0209	10	0.51188	T	0.08	-20.0721	3.0055	0.06027	0.2338:0.5314:0.0:0.2348	.	66	Q8N393	ZN786_HUMAN	D	66;29	ENSP00000417470:E66D;ENSP00000404984:E29D	ENSP00000404984:E29D	E	-	3	2	ZNF786	148402511	0.130000	0.22417	0.155000	0.22561	0.300000	0.27592	-0.475000	0.06599	0.622000	0.30249	0.655000	0.94253	GAG	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	protein_coding	OTTHUMT00000352751.1	C	NM_152411	-		148771578	-1	no_errors	ENST00000491431	ensembl	human	known	74_37	missense	SNP	0.189	G	G	148771578	C	G	148771578	3	3	55	1	0	0	0	0	1	0	0	0	18165	796	28	4	2158	4	ZNF786	7	148771578	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		148771578	10367085	20	3070											
PLIN2	123	genome.wustl.edu	37	chr9	19116354	19116354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggataaaagggaccTaccagccagttgaggggcgt	15	8	0	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr9:19116354T>C	ENST00000276914.2	-	8	1385	c.1206A>G	c.(1204-1206)gtA>gtG	p.V402V	PLIN2_ENST00000411567.1_Silent_p.V321V	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	402					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAAAGGGACCTACCAGCCAGT	0.498																																																	0								ENSG00000147872						91	84	87					9																	19116354		2203	4300	6503	PLIN2	SO:0001819	synonymous_variant	0			-	HGNC	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1206A>G	9.37:g.19116354T>C		Somatic	0	74	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	75	47.18	Q9BSC3	Silent	SNP							pfam_Perilipin,pirsf_Perilipin	p.V402	ENST00000276914.2	37	c.1206	CCDS6490.1	9																																																																																			-	pirsf_Perilipin		0.498	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	protein_coding	OTTHUMT00000051835.1	T	NM_001122	-		19116354	-1	no_errors	ENST00000276914	ensembl	human	known	74_37	silent	SNP	1.000	C	C	19116354	T	C	19116354	2	2	55	1	0	0	0	0	0	0	0	1	12092	1509	53	5		5	PLIN2	9	19116354	Silent	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09		19116354	122097077	21	3071											
FOXD4L3	286380	genome.wustl.edu	37	chr9	70918571	70918571	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacaacccccgcccaggccCtctgcttggggcccctgccc	10	22	1	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr9:70918571C>G	ENST00000342833.2	+	1	1296	c.704C>G	c.(703-705)cCt>cGt	p.P235R		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	235						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CGCCCAGGCCCTCTGCTTGGG	0.716																																																	0								ENSG00000187559						1	1	1					9																	70918571		138	366	504	FOXD4L3	SO:0001583	missense	0			-	HGNC	AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.704C>G	9.37:g.70918571C>G	ENSP00000341961:p.Pro235Arg	Somatic	0	36	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	Q5JTX9	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P235R	ENST00000342833.2	37	c.704	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	2.380	-0.342205	0.05243	.	.	ENSG00000187559	ENST00000342833	D	0.94576	-3.46	3.57	2.23	0.28157	.	.	.	.	.	D	0.86682	0.5991	N	0.24115	0.695	0.20764	N	0.999853	B	0.29909	0.261	B	0.20577	0.03	T	0.75938	-0.3141	9	0.33940	T	0.23	.	5.5441	0.17053	0.0:0.2527:0.0:0.7473	.	235	Q6VB84	FX4L3_HUMAN	R	235	ENSP00000341961:P235R	ENSP00000341961:P235R	P	+	2	0	FOXD4L3	70108391	0.002000	0.14202	0.012000	0.15200	0.093000	0.18481	0.388000	0.20735	0.354000	0.24105	-0.680000	0.03767	CCT	-	NULL		0.716	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	protein_coding	OTTHUMT00000052539.2	C	NM_199358	-		70918571	1	no_errors	ENST00000342833	ensembl	human	known	74_37	missense	SNP	0.536	G	G	70918571	C	G	70918571	3	3	55	1	0	0	0	0	1	0	0	0	6003	681	24	4	706	4	FOXD4L3	9	70918571	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	51802217	70918571	70294860	22	3072											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608855	84608855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgctcttcaatcacaaaCtaggaacaacttgacaacca	4	12	3	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr9:84608855C>T	ENST00000344803.2	+	4	3517	c.3470C>T	c.(3469-3471)aCt>aTt	p.T1157I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1157					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAATCACAAACTAGGAACAAC	0.418																																																	0								ENSG00000214929						51	50	50					9																	84608855		1919	4131	6050	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3470C>T	9.37:g.84608855C>T	ENSP00000341988:p.Thr1157Ile	Somatic	0	45	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	54	46.00		Missense_Mutation	SNP							NULL	p.T1157I	ENST00000344803.2	37	c.3470	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205165	0.39003	.	.	ENSG00000214929	ENST00000344803	T	0.04654	3.58	2.86	2.86	0.33363	.	.	.	.	.	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.56960	0.81	T	0.42932	-0.9422	9	0.38643	T	0.18	0.5154	9.4644	0.38804	0.0:1.0:0.0:0.0	.	1157	Q6ZQQ2	F75D1_HUMAN	I	1157	ENSP00000341988:T1157I	ENSP00000341988:T1157I	T	+	2	0	FAM75D1	83798675	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.599000	0.05700	1.937000	0.56155	0.603000	0.83216	ACT	-	NULL		0.418	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	C	NM_001001670	-		84608855	1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.003	T	T	84608855	C	T	84608855	3	4	55	1	0	0	0	0	1	0	0	0	5934	565	20	2	3484	2	FLJ46321	9	84608855	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	13690284	84608855	56604576	23	3073											
SNAPC4	6621	genome.wustl.edu	37	chr9	139275295	139275295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagccggcagtatcgatgTggaacagctgcgggacacag	15	10	0	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr9:139275295T>C	ENST00000298532.2	-	19	2764	c.2396A>G	c.(2395-2397)cAc>cGc	p.H799R		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGTATCGATGTGGAACAGCTG	0.637																																																	0								ENSG00000165684						48	45	46					9																	139275295		2201	4298	6499	SNAPC4	SO:0001583	missense	0			-	HGNC	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2396A>G	9.37:g.139275295T>C	ENSP00000298532:p.His799Arg	Somatic	0	76	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	63	47.93		Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H799R	ENST00000298532.2	37	c.2396	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	T	2.902	-0.227375	0.06022	.	.	ENSG00000165684	ENST00000298532	T	0.28069	1.63	4.15	4.15	0.48705	.	0.206990	0.35708	N	0.003030	T	0.14614	0.0353	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	10	0.42905	T	0.14	-18.3209	7.2061	0.25907	0.1986:0.0:0.0:0.8014	.	799	Q5SXM2	SNPC4_HUMAN	R	799	ENSP00000298532:H799R	ENSP00000298532:H799R	H	-	2	0	SNAPC4	138395116	0.998000	0.40836	0.985000	0.45067	0.334000	0.28698	1.362000	0.34148	1.648000	0.50643	0.533000	0.62120	CAC	-	NULL		0.637	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	protein_coding	OTTHUMT00000055071.1	T	NM_003086	-		139275295	-1	no_errors	ENST00000298532	ensembl	human	known	74_37	missense	SNP	1.000	C	C	139275295	T	C	139275295	3	2	55	1	0	0	0	0	1	0	0	0	14845	1696	59	5	2029	5	SNAPC4	9	139275295	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	54666440	139275295	1938136	24	3074											
ANAPC2	29882	genome.wustl.edu	37	chr9	140070253	140070253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgtccatggtcaccaGgcccagggtgtgcttccaac	10	16	1	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr9:140070253G>A	ENST00000323927.2	-	11	1931	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	643					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ATGGTCACCAGGCCCAGGGTG	0.662																																																	0								ENSG00000176248						61	46	51					9																	140070253		2195	4296	6491	ANAPC2	SO:0001819	synonymous_variant	0			-	HGNC	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1927C>T	9.37:g.140070253G>A		Somatic	0	54	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	63	42.73	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP							pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.L643	ENST00000323927.2	37	c.1927	CCDS7033.1	9																																																																																			-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	protein_coding	OTTHUMT00000055315.1	G	NM_013366	-		140070253	-1	no_errors	ENST00000323927	ensembl	human	known	74_37	silent	SNP	0.998	A	A	140070253	G	A	140070253	2	1	55	1	0	0	0	0	0	0	0	1	603	991	35	2		2	ANAPC2	9	140070253	Silent	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	794958	140070253	1143178	25	3075											
PNPLA7	375775	genome.wustl.edu	37	chr9	140379046	140379046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaggcttaccgatggcGctgagggcatgctccagctc	14	13	1	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr9:140379046G>A	ENST00000277531.4	-	20	2451	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	PNPLA7_ENST00000406427.1_Silent_p.S780S|PNPLA7_ENST00000371457.1_Silent_p.S361S	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	755					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)			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)		TACCGATGGCGCTGAGGGCAT	0.682																																																	0								ENSG00000130653																																			PNPLA7	SO:0001819	synonymous_variant	0			-	HGNC	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.2265C>T	9.37:g.140379046G>A		Somatic	1	122	0.81		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	91	109	45.27	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S780	ENST00000277531.4	37	c.2340	CCDS7045.1	9																																																																																			-	NULL		0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	G	NM_152286	-		140379046	-1	no_errors	ENST00000406427	ensembl	human	known	74_37	silent	SNP	0.079	A	A	140379046	G	A	140379046	2	1	55	1	0	0	0	0	0	0	0	1	12172	1078	38	1		1	PNPLA7	9	140379046	Silent	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	308793	140379046	834385	26	3076											
ADARB2	105	genome.wustl.edu	37	chr10	1230815	1230815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaccctgccatacagccGcgcccaccgtgcagacagca	8	19	0	1	rs369823256		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr10:1230815G>A	ENST00000381312.1	-	9	2354	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	ADARB2_ENST00000381305.1_Missense_Mutation_p.R79W|ADARB2_ENST00000381310.3_Missense_Mutation_p.R186W	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	677	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCATACAGCCGCGCCCACCGT	0.662																																																	0								ENSG00000185736	G	TRP/ARG	0,4406		0,0,2203	37	34	35		2029	1.9	0	10		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADARB2	NM_018702.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	677/740	1230815	1,13005	2203	4300	6503	ADARB2	SO:0001583	missense	0			-	HGNC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2029C>T	10.37:g.1230815G>A	ENSP00000370713:p.Arg677Trp	Somatic	0	52	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	60	35.11	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R677W	ENST00000381312.1	37	c.2029	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609188	0.28623	0.0	1.16E-4	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94092	-3.35;-3.35;-3.35	5.14	1.94	0.25998	Adenosine deaminase/editase (3);	0.348186	0.33075	N	0.005309	D	0.96140	0.8742	M	0.80616	2.505	0.28238	N	0.925795	D;D;D	0.89917	0.998;0.994;1.0	P;P;D	0.72625	0.765;0.843;0.978	D	0.92386	0.5917	10	0.87932	D	0	-19.0263	13.966	0.64209	0.0:0.0:0.2212:0.7788	.	677;79;186	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	W	677;186;79	ENSP00000370713:R677W;ENSP00000370711:R186W;ENSP00000370706:R79W	ENSP00000370706:R79W	R	-	1	2	ADARB2	1220815	0.027000	0.19231	0.005000	0.12908	0.005000	0.04900	1.570000	0.36439	0.132000	0.18615	-0.268000	0.10319	CGG	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.662	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	protein_coding	OTTHUMT00000046426.1	G	NM_018702	-		1230815	-1	no_errors	ENST00000381312	ensembl	human	known	74_37	missense	SNP	0.282	A	A	1230815	G	A	1230815	3	1	55	1	0	0	0	0	1	0	0	0	283	1086	38	1	198	1	ADARB2	10	1230815	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		1230815	134303932	27	3077											
CUBN	8029	genome.wustl.edu	37	chr10	16873360	16873360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagacagggtttggcagCagagttccacagtacttgcc	13	9	0	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr10:16873360C>T	ENST00000377833.4	-	65	10484	c.10419G>A	c.(10417-10419)ctG>ctA	p.L3473L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3473	CUB 26. {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)			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)	GGTTTGGCAGCAGAGTTCCAC	0.378																																																	0								ENSG00000107611						136	125	129					10																	16873360		2203	4300	6503	CUBN	SO:0001819	synonymous_variant	0			-	HGNC	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.10419G>A	10.37:g.16873360C>T		Somatic	0	28	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	45	33.82	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.L3473	ENST00000377833.4	37	c.10419	CCDS7113.1	10																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	C	NM_001081	-		16873360	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	silent	SNP	0.939	T	T	16873360	C	T	16873360	2	4	55	1	0	0	0	0	0	0	0	1	4053	697	25	2		2	CUBN	10	16873360	Silent	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	15642545	16873360	118661387	28	3078											
MRC1	4360	genome.wustl.edu	37	chr10	18122792	18122792	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaaacatacctgacaGgtagtgacatgaaaagtcgc	10	8	0	4			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr10:18122792G>A	ENST00000239761.3	+	4	905	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	268	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						ATACCTGACAGGTAGTGACAT	0.398																																					GBM(115;1153 1594 28187 28781 35884)												0								ENSG00000120586						69	73	72					10																	18122792		1535	3471	5006	MRC1	SO:0001630	splice_region_variant	0			-	HGNC	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.802+1G>A	10.37:g.18122792G>A		Somatic	0	29	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	1	96.55	A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.G268R	ENST00000239761.3	37	c.802	CCDS7123.1	10	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658100	0.67586	.	.	ENSG00000120586	ENST00000239761	T	0.18338	2.22	3.57	3.57	0.40892	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	U	0.000036	T	0.30166	0.0756	L	0.39085	1.19	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.07139	-1.0788	10	0.56958	D	0.05	-7.7689	14.9246	0.70866	0.0:0.0:1.0:0.0	.	268	P22897	MRC1_HUMAN	R	268	ENSP00000239761:G268R	ENSP00000239761:G268R	G	+	1	0	MRC1	18162798	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	9.465000	0.97660	1.804000	0.52760	0.436000	0.28706	GGA	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.398	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC1	protein_coding	OTTHUMT00000047057.1	G	NM_002438	-	Missense_Mutation	18122792	1	no_errors	ENST00000239761	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18122792	G	A	18122792	5	1	55	1	0	0	0	0	0	0	1	0	9758	1014	35	2	5307	2	MRC1	10	18122792	Splice_Site	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	1249432	18122792	117411955	29	3079											
ALDH18A1	5832	genome.wustl.edu	37	chr10	97402888	97402888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggacttgccatgtgtaCgactgaggggtacagtgata	14	7	0	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr10:97402888C>T	ENST00000371224.2	-	3	301	c.164G>A	c.(163-165)cGt>cAt	p.R55H	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R55H	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	55	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GCCATGTGTACGACTGAGGGG	0.517																																																	0								ENSG00000059573						162	131	142					10																	97402888		2203	4300	6503	ALDH18A1	SO:0001583	missense	0			-	HGNC	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.164G>A	10.37:g.97402888C>T	ENSP00000360268:p.Arg55His	Somatic	0	15	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP							pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.R55H	ENST00000371224.2	37	c.164	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769982	0.69992	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.78816	-1.21;-1.21	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	N	0.19112	0.55	0.80722	D	1	B;B	0.26041	0.048;0.14	B;B	0.16722	0.004;0.016	T	0.64508	-0.6391	10	0.52906	T	0.07	-11.9993	17.1215	0.86702	0.0:1.0:0.0:0.0	.	55;55	P54886;P54886-2	P5CS_HUMAN;.	H	55	ENSP00000360268:R55H;ENSP00000360265:R55H	ENSP00000360265:R55H	R	-	2	0	ALDH18A1	97392878	1.000000	0.71417	0.962000	0.40283	0.739000	0.42172	5.612000	0.67681	2.706000	0.92434	0.655000	0.94253	CGT	-	pirsf_P5_carboxy_syn		0.517	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	protein_coding	OTTHUMT00000049552.1	C	NM_002860	-		97402888	-1	no_errors	ENST00000371224	ensembl	human	known	74_37	missense	SNP	0.999	T	T	97402888	C	T	97402888	3	4	55	1	0	0	0	0	1	0	0	0	489	536	19	1	2287	1	ALDH18A1	10	97402888	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	79280096	97402888	38131859	30	3080											
ANO9	338440	genome.wustl.edu	37	chr11	428528	428528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccccggtcaccaccaCggccgtggtcacctgctcct	10	19	2	1	rs559572219		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr11:428528C>T	ENST00000332826.6	-	13	1216	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	378					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GTCACCACCACGGCCGTGGTC	0.687													c|||	1	0.000199681	0	0	5008	,	,		15322	0.001		0	False		,,,				2504	0																0								ENSG00000185101						29	34	32					11																	428528		2195	4290	6485	ANO9	SO:0001583	missense	0			-	HGNC	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1132G>A	11.37:g.428528C>T	ENSP00000332788:p.Val378Met	Somatic	0	37	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP							pfam_Anoctamin	p.V378M	ENST00000332826.6	37	c.1132	CCDS31326.1	11	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377262	0.24944	.	.	ENSG00000185101	ENST00000332826	T	0.64260	-0.09	3.73	2.8	0.32819	.	3.950950	0.01833	N	0.034807	T	0.64182	0.2575	M	0.79693	2.465	0.28286	N	0.923783	P;P	0.49862	0.912;0.929	B;B	0.37198	0.157;0.243	T	0.57271	-0.7840	10	0.62326	D	0.03	.	8.0762	0.30718	0.0:0.8111:0.0:0.1889	.	79;378	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	M	378	ENSP00000332788:V378M	ENSP00000332788:V378M	V	-	1	0	ANO9	418528	0.942000	0.31987	0.768000	0.31515	0.049000	0.14656	3.229000	0.51278	0.924000	0.37069	0.451000	0.29950	GTG	-	pfam_Anoctamin		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	protein_coding	OTTHUMT00000384116.1	C	NM_001012302	-		428528	-1	no_errors	ENST00000332826	ensembl	human	known	74_37	missense	SNP	0.952	T	T	428528	C	T	428528	3	4	55	1	0	0	0	0	1	0	0	0	704	536	19	1	1260	1	ANO9	11	428528	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		428528	134577988	31	3081											
IGSF22	283284	genome.wustl.edu	37	chr11	18733913	18733913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaactccacccggcccTgtggaggctttggacggtct	13	14	1	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr11:18733913T>C	ENST00000513874.1	-	15	2253	c.2114A>G	c.(2113-2115)cAg>cGg	p.Q705R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	708	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CACCCGGCCCTGTGGAGGCTT	0.562																																																	0								ENSG00000179057						44	43	43					11																	18733913		692	1591	2283	IGSF22	SO:0001583	missense	0			-	HGNC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2114A>G	11.37:g.18733913T>C	ENSP00000421191:p.Gln705Arg	Somatic	0	36	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A6NNA0|D6RGV7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q705R	ENST00000513874.1	37	c.2114	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	t	13.76	2.334369	0.41297	.	.	ENSG00000179057	ENST00000513874	T	0.38722	1.12	4.11	4.11	0.48088	.	.	.	.	.	T	0.56731	0.2005	L	0.59436	1.845	0.09310	N	0.999998	D	0.65815	0.995	D	0.66351	0.943	T	0.44190	-0.9344	9	0.39692	T	0.17	.	11.4856	0.50352	0.0:0.0:0.0:1.0	.	705	D6RGV7	.	R	705	ENSP00000421191:Q705R	ENSP00000421191:Q705R	Q	-	2	0	IGSF22	18690489	0.631000	0.27164	0.590000	0.28732	0.771000	0.43674	0.514000	0.22786	1.740000	0.51718	0.449000	0.29647	CAG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	T	NM_173588	-		18733913	-1	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	SNP	0.981	C	C	18733913	T	C	18733913	3	2	55	1	0	0	0	0	1	0	0	0	7602	1580	55	5	1902	5	IGSF22	11	18733913	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	18305385	18733913	116272603	32	3082											
TMTC1	83857	genome.wustl.edu	37	chr12	29669380	29669380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtgattggtcatcttttCagcttcttttgtctgaccca	7	9	5	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr12:29669380C>T	ENST00000539277.1	-	15	2267	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	TMTC1_ENST00000256062.5_Missense_Mutation_p.E629K|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.E799K|TMTC1_ENST00000552618.1_Missense_Mutation_p.E761K	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	737						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTCATCTTTTCAGCTTCTTTT	0.463																																																	0								ENSG00000133687						148	136	140					12																	29669380		2203	4300	6503	TMTC1	SO:0001583	missense	0			-	HGNC		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2209G>A	12.37:g.29669380C>T	ENSP00000442046:p.Glu737Lys	Somatic	0	19	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E629K	ENST00000539277.1	37	c.1885	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726214	0.69074	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.52295	0.67;0.67;0.67;1.15	5.26	4.38	0.52667	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151837	0.64402	D	0.000020	T	0.44414	0.1292	M	0.62723	1.935	0.80722	D	1	P;P;B	0.43578	0.459;0.811;0.105	B;B;B	0.39119	0.291;0.227;0.062	T	0.43294	-0.9400	9	.	.	.	-24.8941	12.5748	0.56357	0.0:0.9199:0.0:0.0801	.	737;799;82	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	K	500;629;799;761;737	ENSP00000256062:E629K;ENSP00000448112:E799K;ENSP00000449043:E761K;ENSP00000442046:E737K	.	E	-	1	0	TMTC1	29560647	1.000000	0.71417	0.812000	0.32479	0.985000	0.73830	5.225000	0.65294	1.449000	0.47699	0.655000	0.94253	GAA	-	pfscan_TPR-contain_dom		0.463	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	protein_coding	OTTHUMT00000403509.1	C	NM_031920	-		29669380	-1	no_errors	ENST00000256062	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29669380	C	T	29669380	3	4	55	1	0	0	0	0	1	0	0	0	16267	835	29	2	455	2	TMTC1	12	29669380	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		29669380	104182515	33	3083											
MYF6	4618	genome.wustl.edu	37	chr12	81102319	81102319	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgagggtgcggattTcctgcgcacctgcagctccc	12	15	0	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr12:81102319T>A	ENST00000228641.3	+	2	758	c.536T>A	c.(535-537)tTc>tAc	p.F179Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	179					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						GGTGCGGATTTCCTGCGCACC	0.592																																																	0								ENSG00000111046						66	71	69					12																	81102319		2203	4300	6503	MYF6	SO:0001583	missense	0			-	HGNC		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.536T>A	12.37:g.81102319T>A	ENSP00000228641:p.Phe179Tyr	Somatic	0	74	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	72	37.93	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP							pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.F179Y	ENST00000228641.3	37	c.536	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.480595	0.01027	.	.	ENSG00000111046	ENST00000228641	D	0.95980	-3.87	5.36	4.21	0.49690	.	0.266653	0.37857	N	0.001919	D	0.90099	0.6907	L	0.57536	1.79	0.46458	D	0.999056	P	0.40144	0.704	B	0.31442	0.13	D	0.86946	0.2082	10	0.02654	T	1	-29.5767	9.0697	0.36484	0.0:0.0847:0.0:0.9153	.	179	P23409	MYF6_HUMAN	Y	179	ENSP00000228641:F179Y	ENSP00000228641:F179Y	F	+	2	0	MYF6	79626450	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.388000	0.52509	0.968000	0.38212	-0.256000	0.11100	TTC	-	NULL		0.592	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	protein_coding	OTTHUMT00000407756.1	T	NM_002469	-		81102319	1	no_errors	ENST00000228641	ensembl	human	known	74_37	missense	SNP	1.000	A	A	81102319	T	A	81102319	3	1	55	1	0	0	0	0	1	0	0	0	10030	1783	62	5	542	5	MYF6	12	81102319	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	51432939	81102319	52749576	34	3084											
CLLU1OS	574016	genome.wustl.edu	37	chr12	92816388	92816388	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtacaagtctgggagataCtaggctgcactgtctgtaga	12	7	2	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr12:92816388C>G	ENST00000378487.2	-	2	78	c.77G>C	c.(76-78)aGt>aCt	p.S26T	CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.S26T|CLLU1_ENST00000378485.1_5'Flank|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	26										large_intestine(1)|lung(7)	8						ctgggagatactaggctgcac	0.398																																																	0								ENSG00000205057						58	58	58					12																	92816388		2203	4298	6501	CLLU1OS	SO:0001583	missense	0			-	HGNC	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"chronic lymphocytic leukemia up-regulated 1 overlapping strand"				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.77G>C	12.37:g.92816388C>G	ENSP00000367748:p.Ser26Thr	Somatic	0	42	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	32	46.67		Missense_Mutation	SNP							NULL	p.S26T	ENST00000378487.2	37	c.77	CCDS31871.1	12	.	.	.	.	.	.	.	.	.	.	T	0.855	-0.737342	0.03111	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	2.18	-4.35	0.03656	.	.	.	.	.	T	0.14184	0.0343	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14896	-1.0456	8	0.87932	D	0	.	0.9009	0.01273	0.2976:0.3436:0.1506:0.2082	.	26	Q5K130	CLU1O_HUMAN	T	26	.	ENSP00000367748:S26T	S	-	2	0	CLLU1OS	91340519	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.269000	0.00532	-2.323000	0.00639	-0.380000	0.06706	AGT	-	NULL		0.398	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLLU1OS	protein_coding	OTTHUMT00000366646.1	C		-		92816388	-1	no_errors	ENST00000378487	ensembl	human	known	74_37	missense	SNP	0.000	G	G	92816388	C	G	92816388	3	3	55	1	0	0	0	0	1	0	0	0	3543	565	20	4	236	4	CLLU1OS	12	92816388	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	11714069	92816388	41035507	35	3085											
NCOR2	9612	genome.wustl.edu	37	chr12	124832774	124832774	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcggccctccatcatgtcatAggtgcgcttgggggcggccg	16	13	2	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr12:124832774A>T	ENST00000405201.1	-	29	3931	c.3931T>A	c.(3931-3933)Tat>Aat	p.Y1311N	NCOR2_ENST00000397355.1_Missense_Mutation_p.Y1302N|NCOR2_ENST00000404121.2_Missense_Mutation_p.Y872N|NCOR2_ENST00000404621.1_Missense_Mutation_p.Y1301N|NCOR2_ENST00000356219.3_Missense_Mutation_p.Y1318N|NCOR2_ENST00000429285.2_Missense_Mutation_p.Y1301N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1319					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATCATGTCATAGGTGCGCTTG	0.632											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000196498						41	48	46					12																	124832774		2034	4160	6194	NCOR2	SO:0001583	missense	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3931T>A	12.37:g.124832774A>T	ENSP00000384018:p.Tyr1311Asn	Somatic	0	48	0	1537	0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	107	10.08	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Y1318N	ENST00000405201.1	37	c.3952	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151526	0.57151	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.55930	0.56;0.56;0.56;0.56;0.56;0.56;0.49	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.73467	-0.3973	10	0.87932	D	0	-17.4956	14.7178	0.69284	1.0:0.0:0.0:0.0	.	1301;1302;1311	C9J0Q5;C9J239;C9JFD3	.;.;.	N	1311;1301;1318;1302;1310;872;1301;1319	ENSP00000384018:Y1311N;ENSP00000384202:Y1301N;ENSP00000348551:Y1318N;ENSP00000380513:Y1302N;ENSP00000385618:Y872N;ENSP00000400281:Y1301N;ENSP00000402808:Y1319N	ENSP00000348551:Y1318N	Y	-	1	0	NCOR2	123398727	1.000000	0.71417	0.998000	0.56505	0.685000	0.39939	6.298000	0.72763	1.879000	0.54435	0.459000	0.35465	TAT	-	NULL		0.632	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	A	NM_006312	-		124832774	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124832774	A	T	124832774	3	4	55	1	0	0	0	0	1	0	0	0	10238	420	15	5	3689	5	NCOR2	12	124832774	Missense_Mutation	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09	32016386	124832774	9019121	36	3086											
RB1	5925	genome.wustl.edu	37	chr13	49030390	49030391	+	Frame_Shift_Ins	INS	-	-	A													aaaggttcaactacgcgtgtINSaaattctactgcaaatgcag							TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr13:49030390_49030391insA	ENST00000267163.4	+	19	2003_2004	c.1865_1866insA	c.(1864-1869)gtaaatfs	p.N623fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	623	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACTACGCGTGTAAATTCTACTG	0.371		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	25	Whole gene deletion(15)|Unknown(10)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)						ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1868dupA	13.37:g.49030393_49030393dupA	ENSP00000267163:p.Asn623fs	Somatic	0	41	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	7	80.00	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.N623fs	ENST00000267163.4	37	c.1865_1866	CCDS31973.1	13																																																																																			-	NULL		0.371	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	-				49030391	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_ins	INS	0.967:0.967	A	A	49030391	-	A	49030390	7	5	55	1	0	1	1	0	0	0	0	0	13106	1638	57	0	1939	0	RB1	13	49030390	Frame_Shift_Ins	INS	-	TCGA-DX-A3UE-01A-11D-A307-09		49030390	66139488	37	3087											
RB1	5925	genome.wustl.edu	37	chr13	49039232	49039232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaacaaatattttgcaGtatgcttccaccagggtagg	9	8	0	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr13:49039232G>T	ENST00000267163.4	+	22	2448	c.2310G>T	c.(2308-2310)caG>caT	p.Q770H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	770	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.Q770fs*24(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATATTTTGCAGTATGCTTCCA	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(12)|Insertion - Frameshift(1)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)						ENSG00000139687						75	77	77					13																	49039232		2203	4300	6503	RB1	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2310G>T	13.37:g.49039232G>T	ENSP00000267163:p.Gln770His	Somatic	0	76	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q770H	ENST00000267163.4	37	c.2310	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570322	0.65765	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.84298	-1.83	5.48	3.71	0.42584	Rb C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	L	0.55990	1.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.68943	0.961	D	0.88807	0.3289	10	0.87932	D	0	.	11.0805	0.48057	0.1746:0.0:0.8254:0.0	.	770	P06400	RB_HUMAN	H	749;770	ENSP00000267163:Q770H	ENSP00000267163:Q770H	Q	+	3	2	RB1	47937233	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.469000	0.45110	2.593000	0.87608	0.591000	0.81541	CAG	-	pfam_RB_C,superfamily_Cyclin-like		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-		49039232	1	no_errors	ENST00000267163	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49039232	G	T	49039232	3	4	55	1	0	0	0	0	1	0	0	0	13106	1020	36	3	2396	3	RB1	13	49039232	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	8842	49039232	66130646	38	3088											
ALG11	440138	genome.wustl.edu	37	chr13	52602658	52602658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagtgctcgtgcatctGtaagcagattctctgatcag	10	8	3	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr13:52602658G>T	ENST00000521508.1	+	4	1416	c.1411G>T	c.(1411-1413)Gta>Tta	p.V471L	ALG11_ENST00000523764.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	471					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TCGTGCATCTGTAAGCAGATT	0.358																																																	0								ENSG00000253710						63	64	64					13																	52602658		2203	4300	6503	ALG11	SO:0001583	missense	0			-	HGNC	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1411G>T	13.37:g.52602658G>T	ENSP00000430236:p.Val471Leu	Somatic	0	29	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP							pfam_Glyco_trans_1	p.V471L	ENST00000521508.1	37	c.1411	CCDS31977.1	13	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645323	0.47258	.	.	ENSG00000253710	ENST00000521508	T	0.81415	-1.49	5.74	2.1	0.27182	.	0.147583	0.44902	N	0.000413	T	0.73544	0.3600	L	0.57130	1.785	0.80722	D	1	B	0.14805	0.011	B	0.12156	0.007	T	0.64470	-0.6400	10	0.48119	T	0.1	.	7.5446	0.27759	0.1893:0.1222:0.6884:0.0	.	471	Q2TAA5	ALG11_HUMAN	L	471	ENSP00000430236:V471L	ENSP00000430236:V471L	V	+	1	0	ALG11	51500659	1.000000	0.71417	0.780000	0.31762	0.991000	0.79684	3.887000	0.56197	0.085000	0.17107	0.655000	0.94253	GTA	-	NULL		0.358	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	protein_coding	OTTHUMT00000045050.1	G	NM_001004127	-		52602658	1	no_errors	ENST00000521508	ensembl	human	known	74_37	missense	SNP	0.979	T	T	52602658	G	T	52602658	3	4	55	1	0	0	0	0	1	0	0	0	513	1377	48	3	1425	3	ALG11	13	52602658	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	3563426	52602658	62567220	39	3089											
SLC15A1	6564	genome.wustl.edu	37	chr13	99340755	99340755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaactggtatgtgctggCattgtagctgctgatgtttg	12	5	0	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr13:99340755C>A	ENST00000376503.5	-	19	1598	c.1543G>T	c.(1543-1545)Gcc>Tcc	p.A515S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	515					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)			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)	TATGTGCTGGCATTGTAGCTG	0.358																																																	0								ENSG00000088386						127	127	127					13																	99340755		2203	4300	6503	SLC15A1	SO:0001583	missense	0			-	HGNC	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.1543G>T	13.37:g.99340755C>A	ENSP00000365686:p.Ala515Ser	Somatic	0	82	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	62	43.12	Q5VW82	Missense_Mutation	SNP							pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.A515S	ENST00000376503.5	37	c.1543	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	6.480	0.456741	0.12283	.	.	ENSG00000088386	ENST00000376503	T	0.02103	4.45	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);	0.264293	0.45126	D	0.000395	T	0.04907	0.0132	L	0.58101	1.795	0.80722	D	1	B	0.23540	0.087	B	0.28991	0.097	T	0.40664	-0.9551	10	0.41790	T	0.15	-33.2304	17.2153	0.86941	0.0:1.0:0.0:0.0	.	515	P46059	S15A1_HUMAN	S	515	ENSP00000365686:A515S	ENSP00000365686:A515S	A	-	1	0	SLC15A1	98138756	0.560000	0.26570	0.979000	0.43373	0.007000	0.05969	1.840000	0.39230	2.793000	0.96121	0.655000	0.94253	GCC	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.358	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	protein_coding	OTTHUMT00000045560.3	C	NM_005073	-		99340755	-1	no_errors	ENST00000376503	ensembl	human	known	74_37	missense	SNP	0.995	A	A	99340755	C	A	99340755	3	1	55	1	0	0	0	0	1	0	0	0	14406	710	25	3	603	3	SLC15A1	13	99340755	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	46738097	99340755	15829123	40	3090											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84611788	84611788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtctcacaagtcctgtgCcaggacagactgtcctccac	8	15	1	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr15:84611788C>T	ENST00000286744.5	+	19	2668	c.2444C>T	c.(2443-2445)gCc>gTc	p.A815V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A815V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	815	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGTCCTGTGCCAGGACAGAC	0.512																																																	0								ENSG00000156218						72	63	66					15																	84611788		2203	4300	6503	ADAMTSL3	SO:0001583	missense	0			-	HGNC	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2444C>T	15.37:g.84611788C>T	ENSP00000286744:p.Ala815Val	Somatic	0	33	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.A815V	ENST00000286744.5	37	c.2444	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255082	0.80135	.	.	ENSG00000156218	ENST00000286744	T	0.60299	0.2	5.08	4.09	0.47781	.	0.480689	0.15875	N	0.240353	T	0.59824	0.2222	N	0.25789	0.76	0.31667	N	0.644868	P;D	0.76494	0.778;0.999	P;P	0.62491	0.596;0.903	T	0.60042	-0.7340	10	0.30854	T	0.27	.	13.3742	0.60728	0.0:0.7098:0.2902:0.0	.	815;815	P82987-2;P82987	.;ATL3_HUMAN	V	815	ENSP00000286744:A815V	ENSP00000286744:A815V	A	+	2	0	ADAMTSL3	82402792	0.999000	0.42202	0.997000	0.53966	0.996000	0.88848	2.133000	0.42093	2.358000	0.79984	0.655000	0.94253	GCC	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.512	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	C	NM_207517	-		84611788	1	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	SNP	0.996	T	T	84611788	C	T	84611788	3	4	55	1	0	0	0	0	1	0	0	0	276	739	26	2	2514	2	ADAMTSL3	15	84611788	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		84611788	17919604	41	3091											
AKAP13	11214	genome.wustl.edu	37	chr15	86118421	86118421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaataccgtatggagActgttctgtgaggcatcatc	10	8	2	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr15:86118421A>G	ENST00000394518.2	+	6	817	c.722A>G	c.(721-723)gAc>gGc	p.D241G	AKAP13_ENST00000361243.2_Missense_Mutation_p.D241G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	241					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						CCGTATGGAGACTGTTCTGTG	0.443																																					Melanoma(94;603 1453 3280 32295 32951)												0								ENSG00000170776						153	145	147					15																	86118421		2202	4299	6501	AKAP13	SO:0001583	missense	0			-	HGNC	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.722A>G	15.37:g.86118421A>G	ENSP00000378026:p.Asp241Gly	Somatic	0	43	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	57	40.00	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D241G	ENST00000394518.2	37	c.722	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	A	18.72	3.685006	0.68157	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.61274	0.12;0.12	5.2	4.08	0.47627	.	.	.	.	.	T	0.56601	0.1996	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.60321	-0.7286	9	0.87932	D	0	.	7.622	0.28191	0.9058:0.0:0.0942:0.0	.	241;241	Q12802;Q12802-2	AKP13_HUMAN;.	G	241;241;240;240	ENSP00000354718:D241G;ENSP00000378026:D241G	ENSP00000354718:D241G	D	+	2	0	AKAP13	83919425	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	3.283000	0.51701	1.104000	0.41587	0.533000	0.62120	GAC	-	NULL		0.443	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	protein_coding	OTTHUMT00000417318.1	A	NM_007200	-		86118421	1	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	SNP	0.999	G	G	86118421	A	G	86118421	3	3	55	1	0	0	0	0	1	0	0	0	449	275	10	5	740	5	AKAP13	15	86118421	Missense_Mutation	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09	1506633	86118421	16412971	42	3092											
CACNG3	10368	genome.wustl.edu	37	chr16	24373086	24373086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccctcctcaactccgacCgggaccacgcttttctacag	8	17	2	0	rs555623613		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr16:24373086C>T	ENST00000005284.3	+	4	2052	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	284					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	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)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAACTCCGACCGGGACCACGC	0.552													c|||	1	0.000199681	0	0	5008	,	,		18452	0		0	False		,,,				2504	0.001																0								ENSG00000006116						97	103	101					16																	24373086		2197	4300	6497	CACNG3	SO:0001583	missense	0			-	HGNC	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.850C>T	16.37:g.24373086C>T	ENSP00000005284:p.Arg284Trp	Somatic	0	15	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10		Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.R284W	ENST00000005284.3	37	c.850	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	c	18.07	3.542135	0.65198	.	.	ENSG00000006116	ENST00000005284	T	0.58210	0.35	4.93	3.95	0.45737	.	0.348823	0.26062	N	0.026565	T	0.67924	0.2945	M	0.66939	2.045	0.51233	D	0.999918	D	0.89917	1.0	D	0.70487	0.969	T	0.70263	-0.4920	10	0.72032	D	0.01	-9.5464	11.9856	0.53145	0.315:0.685:0.0:0.0	.	284	O60359	CCG3_HUMAN	W	284	ENSP00000005284:R284W	ENSP00000005284:R284W	R	+	1	2	CACNG3	24280587	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.536000	0.45693	1.015000	0.39444	0.645000	0.84053	CGG	-	NULL		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	protein_coding	OTTHUMT00000254548.1	C	NM_006539	-		24373086	1	no_errors	ENST00000005284	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24373086	C	T	24373086	3	4	55	1	0	0	0	0	1	0	0	0	2560	643	23	1	864	1	CACNG3	16	24373086	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		24373086	65981667	43	3093											
CES3	23491	genome.wustl.edu	37	chr16	66998569	66998569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgttccacagagccatcaCacagagtggggtcatcacca	10	13	3	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr16:66998569C>A	ENST00000303334.4	+	6	829	c.758C>A	c.(757-759)aCa>aAa	p.T253K	CES3_ENST00000394037.1_Missense_Mutation_p.T253K|RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	253						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGAGCCATCACACAGAGTGGG	0.587																																																	0								ENSG00000172828						169	138	149					16																	66998569		2200	4300	6500	CES3	SO:0001583	missense	0			-	HGNC	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.758C>A	16.37:g.66998569C>A	ENSP00000304782:p.Thr253Lys	Somatic	0	54	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	63	41.67	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T253K	ENST00000303334.4	37	c.758	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533322	0.45073	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.67345	-0.26;-0.26	4.14	2.17	0.27698	Carboxylesterase, type B (1);	0.623213	0.13351	N	0.394414	T	0.56891	0.2016	L	0.43923	1.385	0.09310	N	0.999997	B	0.25272	0.122	B	0.21917	0.037	T	0.52419	-0.8578	10	0.72032	D	0.01	.	9.6549	0.39919	0.0:0.8474:0.0:0.1526	.	253	Q6UWW8	EST3_HUMAN	K	253	ENSP00000304782:T253K;ENSP00000377602:T253K	ENSP00000304782:T253K	T	+	2	0	CES3	65556070	0.008000	0.16893	0.002000	0.10522	0.547000	0.35210	2.372000	0.44257	0.482000	0.27582	0.655000	0.94253	ACA	-	pfam_CarbesteraseB		0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	protein_coding	OTTHUMT00000268848.1	C	NM_024922	-		66998569	1	no_errors	ENST00000303334	ensembl	human	known	74_37	missense	SNP	0.002	A	A	66998569	C	A	66998569	3	1	55	1	0	0	0	0	1	0	0	0	3273	478	17	3	780	3	CES3	16	66998569	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	42625483	66998569	23356184	44	3094											
TP53	7157	genome.wustl.edu	37	chr17	7577152	7577154	+	Splice_Site	DEL	ACC	ACC	-													ctgttccgtcccagtagattAccactactcaggataggaaa					rs200579969		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	ACC	ACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr17:7577152_7577154delACC	ENST00000269305.4	-	8	973_975	c.784_786delGGT	c.(784-786)ggtdel	p.G262del	TP53_ENST00000455263.2_Splice_Site_p.G262del|TP53_ENST00000359597.4_Splice_Site_p.G262del|TP53_ENST00000445888.2_Splice_Site_p.G262del|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site_p.G262del|TP53_ENST00000574684.1_5'Flank	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	262	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). {ECO:0000269|Ref.23}.|GN -> PD (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.G262V(19)|p.0?(8)|p.G262fs*83(5)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262del(2)|p.G262_S269delGNLLGRNS(2)|p.G262S(2)|p.N263fs*5(1)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.S261_G262insX(1)|p.G262fs*2(1)|p.N263H(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)	CCAGTAGATTACCACTACTCAGG	0.517		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	56	Substitution - Missense(27)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(6)|Unknown(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	lung(9)|large_intestine(8)|ovary(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|urinary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|endometrium(2)|breast(2)|stomach(2)|pancreas(2)|eye(1)|liver(1)						ENSG00000141510																																			TP53	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;		HGNC	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.783-1GGT>-	17.37:g.7577152_7577154delACC		Somatic	0	16	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	4	75.00	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	In_Frame_Del	DEL							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G262in_frame_del	ENST00000269305.4	37	c.786_784	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	ACC	NM_000546		In_Frame_Del	7577154	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	DEL	0.004:1.000:1.000	-	-	7577154	ACC	-	7577152	8	5	55	1	0	1	0	1	0	0	1	0	16388	378	14	0	500	0	TP53	17	7577152	Splice_Site	DEL	ACC	TCGA-DX-A3UE-01A-11D-A307-09		7577152	73618058	45	3095											
MYH4	4622	genome.wustl.edu	37	chr17	10355349	10355349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagcttctgcttgaccCgctgaaggctgtcaatctgc	9	14	4	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr17:10355349C>T	ENST00000255381.2	-	27	3757	c.3647G>A	c.(3646-3648)cGg>cAg	p.R1216Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1216					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						CTGCTTGACCCGCTGAAGGCT	0.527																																																	0								ENSG00000264424						110	87	94					17																	10355349		2203	4300	6503	MYH4	SO:0001583	missense	0			-	HGNC		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.3647G>A	17.37:g.10355349C>T	ENSP00000255381:p.Arg1216Gln	Somatic	0	50	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	107	33.12		Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1216Q	ENST00000255381.2	37	c.3647	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025232	0.93518	.	.	ENSG00000141048	ENST00000255381	T	0.80214	-1.35	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.35870	U	0.002927	D	0.90338	0.6977	M	0.81497	2.545	0.52501	D	0.99995	D	0.89917	1.0	D	0.85130	0.997	D	0.89053	0.3457	10	0.40728	T	0.16	.	19.7768	0.96398	0.0:1.0:0.0:0.0	.	1216	Q9Y623	MYH4_HUMAN	Q	1216	ENSP00000255381:R1216Q	ENSP00000255381:R1216Q	R	-	2	0	MYH4	10296074	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.733000	0.84916	2.745000	0.94114	0.655000	0.94253	CGG	-	pfam_Myosin_tail,superfamily_Prefoldin		0.527	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	C	NM_017533	-		10355349	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10355349	C	T	10355349	3	4	55	1	0	0	0	0	1	0	0	0	10039	652	23	1	2228	1	MYH4	17	10355349	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	2778197	10355349	70839861	46	3096											
TGIF1	7050	genome.wustl.edu	37	chr18	3457483	3457483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatttctgaaacgagcTctgtggagtccgtgatgggc	13	9	2	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr18:3457483T>C	ENST00000330513.5	+	3	1054	c.751T>C	c.(751-753)Tct>Cct	p.S251P	TGIF1_ENST00000407501.2_Missense_Mutation_p.S122P|TGIF1_ENST00000345133.5_Missense_Mutation_p.S102P|TGIF1_ENST00000401449.1_Missense_Mutation_p.S102P|TGIF1_ENST00000577543.1_3'UTR|TGIF1_ENST00000343820.5_Missense_Mutation_p.S122P|TGIF1_ENST00000548489.2_Missense_Mutation_p.S136P|TGIF1_ENST00000400167.2_Missense_Mutation_p.S102P|TGIF1_ENST00000472042.1_Missense_Mutation_p.S102P|TGIF1_ENST00000551541.1_Missense_Mutation_p.S102P|TGIF1_ENST00000405385.3_Missense_Mutation_p.S102P	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	251					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGAAACGAGCTCTGTGGAGTC	0.552																																																	0								ENSG00000177426						54	54	54					18																	3457483		2203	4300	6503	TGIF1	SO:0001583	missense	0			-	HGNC	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.751T>C	18.37:g.3457483T>C	ENSP00000327959:p.Ser251Pro	Somatic	0	44	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	26	64.38	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP							pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S251P	ENST00000330513.5	37	c.751	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	T	2.608	-0.291383	0.05568	.	.	ENSG00000177426	ENST00000552383;ENST00000401449;ENST00000550958;ENST00000548489;ENST00000549780;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000549468;ENST00000400167;ENST00000551333;ENST00000472042	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73681	0.48;0.5;-0.76;0.49;0.48;0.5;0.5;0.5;0.5;0.5;0.44;0.5;-0.77;0.5;-0.77;0.5	5.58	1.73	0.24493	.	0.550760	0.20856	N	0.084436	T	0.57344	0.2047	L	0.41492	1.28	0.45883	D	0.998736	B;B;B	0.19331	0.01;0.011;0.035	B;B;B	0.19148	0.024;0.02;0.015	T	0.49224	-0.8962	10	0.40728	T	0.16	-12.081	0.8962	0.01264	0.1768:0.1731:0.364:0.286	.	251;122;136	Q15583;Q15583-2;F8VZB6	TGIF1_HUMAN;.;.	P	102;102;102;136;102;102;122;122;102;102;251;102;102;102;102;102	ENSP00000449287:S102P;ENSP00000385206:S102P;ENSP00000449531:S102P;ENSP00000447747:S136P;ENSP00000448121:S102P;ENSP00000384970:S102P;ENSP00000339631:S122P;ENSP00000384133:S122P;ENSP00000450025:S102P;ENSP00000343969:S102P;ENSP00000327959:S251P;ENSP00000449580:S102P;ENSP00000449722:S102P;ENSP00000383031:S102P;ENSP00000446838:S102P;ENSP00000449501:S102P	ENSP00000327959:S251P	S	+	1	0	TGIF1	3447483	0.999000	0.42202	0.972000	0.41901	0.478000	0.33099	2.010000	0.40913	0.340000	0.23745	0.460000	0.39030	TCT	-	pfam_Homeobox_KN_domain		0.552	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	protein_coding	OTTHUMT00000254368.4	T	NM_170695	-		3457483	1	no_errors	ENST00000330513	ensembl	human	known	74_37	missense	SNP	0.997	C	C	3457483	T	C	3457483	3	2	55	1	0	0	0	0	1	0	0	0	15832	1551	54	5	843	5	TGIF1	18	3457483	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09		3457483	74619765	47	3097											
SLC39A6	25800	genome.wustl.edu	37	chr18	33694172	33694172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagagtagcgctggctgtgActgtgaggatggtggttttg	18	5	0	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr18:33694172A>C	ENST00000590986.1	-	7	2020	c.1731T>G	c.(1729-1731)agT>agG	p.S577R	SLC39A6_ENST00000269187.5_Missense_Mutation_p.S577R|SLC39A6_ENST00000440549.2_Missense_Mutation_p.S302R			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	577	His-rich.				cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						gctggctgtgactgtgaggat	0.537																																																	0								ENSG00000141424						161	163	162					18																	33694172		2179	4287	6466	SLC39A6	SO:0001583	missense	0			-	HGNC	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1731T>G	18.37:g.33694172A>C	ENSP00000465915:p.Ser577Arg	Somatic	0	31	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	60	24.05	B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP							pfam_ZIP	p.S577R	ENST00000590986.1	37	c.1731	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653229	0.67472	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.50813	0.73;0.73	6.04	-0.177	0.13307	.	0.075413	0.85682	D	0.000000	T	0.47229	0.1434	N	0.17631	0.505	0.47374	D	0.999401	D;D	0.76494	0.999;0.982	D;P	0.73380	0.98;0.802	T	0.40572	-0.9556	10	0.56958	D	0.05	-18.9648	9.7552	0.40500	0.5031:0.0:0.4969:0.0	.	577;302	Q13433;Q13433-2	S39A6_HUMAN;.	R	577;302;302	ENSP00000269187:S577R;ENSP00000401139:S302R	ENSP00000269187:S577R	S	-	3	2	SLC39A6	31948170	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.158000	0.31737	-0.032000	0.13758	0.460000	0.39030	AGT	-	pfam_ZIP		0.537	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	protein_coding	OTTHUMT00000444136.1	A		-		33694172	-1	no_errors	ENST00000269187	ensembl	human	known	74_37	missense	SNP	0.997	C	C	33694172	A	C	33694172	3	2	55	1	0	0	0	0	1	0	0	0	14630	272	10	5	564	5	SLC39A6	18	33694172	Missense_Mutation	SNP	A	TCGA-DX-A3UE-01A-11D-A307-09	30236689	33694172	44383076	48	3098											
ZNF564	163050	genome.wustl.edu	37	chr19	12638575	12638575	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatgtgcctactaagggatGaatgatgcatgaagactttc	11	6	0	5			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr19:12638575G>A	ENST00000339282.7	-	4	543	c.347C>T	c.(346-348)tCa>tTa	p.S116L	CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	116					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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTAAGGGATGAATGATGCAT	0.393																																																	0								ENSG00000249709						126	127	126					19																	12638575		2146	4271	6417	ZNF564	SO:0001583	missense	0			-	HGNC	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.347C>T	19.37:g.12638575G>A	ENSP00000340004:p.Ser116Leu	Somatic	0	29	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	31	45.61	B9EGT4|Q6P1K6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S116L	ENST00000339282.7	37	c.347	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711507	0.89112	.	.	ENSG00000249709	ENST00000339282	T	0.36157	1.27	1.56	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41789	0.1174	M	0.82132	2.575	0.80722	D	1	B	0.21147	0.052	B	0.29524	0.103	T	0.51228	-0.8732	9	0.56958	D	0.05	.	10.7898	0.46426	0.0:0.0:1.0:0.0	.	116	Q8TBZ8	ZN564_HUMAN	L	116	ENSP00000340004:S116L	ENSP00000340004:S116L	S	-	2	0	ZNF564	12499575	0.002000	0.14202	0.653000	0.29593	0.890000	0.51754	1.016000	0.29976	1.186000	0.42985	0.643000	0.83706	TCA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	protein_coding	OTTHUMT00000344120.2	G	NM_144976	-		12638575	-1	no_errors	ENST00000339282	ensembl	human	known	74_37	missense	SNP	0.993	A	A	12638575	G	A	12638575	3	1	55	1	0	0	0	0	1	0	0	0	18002	1294	45	2	1318	2	ZNF564	19	12638575	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09		12638575	46490408	49	3099											
CACNA1A	773	genome.wustl.edu	37	chr19	13397420	13397420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaattggtctgggtgccGctggggttggtgacgataag	18	6	1	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr19:13397420G>A	ENST00000360228.5	-	20	3449	c.3450C>T	c.(3448-3450)agC>agT	p.S1150S	CACNA1A_ENST00000573710.2_Silent_p.S1151S	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	1151					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)			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)	TCTGGGTGCCGCTGGGGTTGG	0.652																																																	0								ENSG00000141837						44	46	45					19																	13397420		1965	4134	6099	CACNA1A	SO:0001819	synonymous_variant	0			-	HGNC	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.3450C>T	19.37:g.13397420G>A		Somatic	0	23	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	25	44.44	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.S1150	ENST00000360228.5	37	c.3450	CCDS45998.1	19																																																																																			-	NULL		0.652	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	G	NM_000068	-		13397420	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	SNP	1.000	A	A	13397420	G	A	13397420	2	1	55	1	0	0	0	0	0	0	0	1	2540	1078	38	1		1	CACNA1A	19	13397420	Silent	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	758845	13397420	45731563	50	3100											
UBA2	10054	genome.wustl.edu	37	chr19	34949766	34949766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattgttatgtatgtgccagCaagccagaggtgactgtgcg	13	7	0	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr19:34949766C>G	ENST00000246548.4	+	13	1408	c.1338C>G	c.(1336-1338)agC>agG	p.S446R	UBA2_ENST00000439527.2_Missense_Mutation_p.S350R|UBA2_ENST00000592791.1_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	446					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TATGTGCCAGCAAGCCAGAGG	0.453																																																	0								ENSG00000126261						124	109	114					19																	34949766		2203	4300	6503	UBA2	SO:0001583	missense	0			-	HGNC	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1338C>G	19.37:g.34949766C>G	ENSP00000246548:p.Ser446Arg	Somatic	0	43	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP							pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.S446R	ENST00000246548.4	37	c.1338	CCDS12439.1	19	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830965	0.50845	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.31247	1.5;1.5	5.5	3.34	0.38264	Molybdenum cofactor biosynthesis, MoeB (1);	0.035291	0.85682	D	0.000000	T	0.28995	0.0720	M	0.72118	2.19	0.58432	D	0.999996	B	0.19073	0.033	B	0.14578	0.011	T	0.06752	-1.0809	10	0.17832	T	0.49	-15.9676	9.135	0.36868	0.0:0.7685:0.0:0.2315	.	446	Q9UBT2	SAE2_HUMAN	R	446;350	ENSP00000246548:S446R;ENSP00000437484:S350R	ENSP00000246548:S446R	S	+	3	2	UBA2	39641606	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.824000	0.39072	0.779000	0.33543	-0.145000	0.13849	AGC	-	superfamily_Molybdenum_cofac_synth_MoeB		0.453	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	protein_coding	OTTHUMT00000459257.3	C	NM_005499	-		34949766	1	no_errors	ENST00000246548	ensembl	human	known	74_37	missense	SNP	1.000	G	G	34949766	C	G	34949766	3	3	55	1	0	0	0	0	1	0	0	0	16835	709	25	4	1388	4	UBA2	19	34949766	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	21552346	34949766	24179217	51	3101											
MAG	4099	genome.wustl.edu	37	chr19	35793405	35793405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccgtagagggggagaCggtctctatcttgtgctcca	16	9	2	2	rs199924214		TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr19:35793405C>T	ENST00000392213.3	+	7	1184	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	MAG_ENST00000537831.2_Missense_Mutation_p.T317M|MAG_ENST00000361922.4_Missense_Mutation_p.T342M	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGGGGGAGACGGTCTCTATC	0.577													C|||	1	0.000199681	0	0	5008	,	,		20027	0		0	False		,,,				2504	0.001																0								ENSG00000105695						106	88	94					19																	35793405		2203	4300	6503	MAG	SO:0001583	missense	0			-	HGNC	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1025C>T	19.37:g.35793405C>T	ENSP00000376048:p.Thr342Met	Somatic	0	27	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	24	52.00	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T342M	ENST00000392213.3	37	c.1025	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565172	0.45694	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.12879	2.64;2.64;2.64	5.28	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.416754	0.26601	N	0.023466	T	0.31734	0.0806	M	0.74389	2.26	0.46701	D	0.999168	D;D;D	0.76494	0.998;0.995;0.999	P;P;P	0.60012	0.652;0.81;0.867	T	0.04796	-1.0926	10	0.52906	T	0.07	.	11.9245	0.52812	0.0:0.9139:0.0:0.0861	.	379;342;342	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	379;342;342;317	ENSP00000355234:T342M;ENSP00000376048:T342M;ENSP00000440695:T317M	ENSP00000262624:T379M	T	+	2	0	MAG	40485245	0.586000	0.26782	0.721000	0.30653	0.148000	0.21650	2.130000	0.42064	1.216000	0.43427	0.455000	0.32223	ACG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.577	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	protein_coding	OTTHUMT00000466071.1	C	NM_080600	rs199924214		35793405	1	no_errors	ENST00000392213	ensembl	human	known	74_37	missense	SNP	0.863	T	T	35793405	C	T	35793405	3	4	55	1	0	0	0	0	1	0	0	0	9164	536	19	1	1043	1	MAG	19	35793405	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	843639	35793405	23335578	52	3102											
LOC400696	400696	genome.wustl.edu	37	chr19	40172709	40172709	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacatcgccttccatttccGagtgtactttggtcattggg	10	10	1	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr19:40172709G>A	ENST00000412609.1	+	0	210																											TTCCATTTCCGAGTGTACTTT	0.522																																					Colon(98;189 2488 3678)												0								ENSG00000226025						193	160	170					19																	40172709		692	1591	2283	LGALS17A			0			-	Clone_based_vega_gene																													19.37:g.40172709G>A		Somatic	0	44	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	67	49.62		RNA	SNP							-	NULL	ENST00000412609.1	37	NULL		19																																																																																			-	-		0.522	LGALS17A-001	KNOWN	basic	processed_transcript	LGALS17A	pseudogene	OTTHUMT00000280514.1	G		-		40172709	1	no_errors	ENST00000412609	ensembl	human	known	74_37	rna	SNP	0.050	A	A	40172709	G	A	40172709	1	1	55	0	1	0	0	0	0	0	0	0	8878	1058	37	1		1	LOC400696	19	40172709	RNA	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	4379304	40172709	18956274	53	3103											
PPP5C	5536	genome.wustl.edu	37	chr19	46891839	46891839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgatcagcaagcggggcgtGagctgtcagtttgggcctga	16	9	2	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr19:46891839G>A	ENST00000012443.4	+	11	1309	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	PPP5C_ENST00000391919.1_Silent_p.V274V|AC007193.8_ENST00000598616.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	402	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		AGCGGGGCGTGAGCTGTCAGT	0.612																																																	0								ENSG00000011485						88	67	75					19																	46891839		2203	4300	6503	PPP5C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1206G>A	19.37:g.46891839G>A		Somatic	0	34	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	60	42.86	Q16722|Q53XV2	Silent	SNP							pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.V402	ENST00000012443.4	37	c.1206	CCDS12684.1	19																																																																																			-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5		0.612	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	protein_coding	OTTHUMT00000258969.2	G	NM_006247	-		46891839	1	no_errors	ENST00000012443	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46891839	G	A	46891839	2	1	55	1	0	0	0	0	0	0	0	1	12411	1277	45	2		2	PPP5C	19	46891839	Silent	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	6719130	46891839	12237144	54	3104											
HIRA	7290	genome.wustl.edu	37	chr22	19384361	19384361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aactgccagtccagcgtcctCcacacctttaggctgcggtc	9	16	0	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chr22:19384361C>G	ENST00000263208.5	-	7	859	c.603G>C	c.(601-603)tgG>tgC	p.W201C	HIRA_ENST00000340170.4_Missense_Mutation_p.W201C|HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000541063.1_Missense_Mutation_p.W157C|HIRA_ENST00000546308.1_Missense_Mutation_p.W157C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	201					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|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)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGCGTCCTCCACACCTTTA	0.557																																																	0								ENSG00000100084						90	82	85					22																	19384361		2203	4300	6503	HIRA	SO:0001583	missense	0			-	HGNC	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.603G>C	22.37:g.19384361C>G	ENSP00000263208:p.Trp201Cys	Somatic	0	34	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.33	Q05BU9|Q8IXN2	Missense_Mutation	SNP							pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W201C	ENST00000263208.5	37	c.603	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501789	0.85176	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.13	5.13	0.70059	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	0.93174	0.7826	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.94360	0.7587	10	0.87932	D	0	-12.1332	18.7753	0.91908	0.0:1.0:0.0:0.0	.	157;201;201	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	C	201;201;157;157	ENSP00000345350:W201C;ENSP00000263208:W201C;ENSP00000446073:W157C;ENSP00000441870:W157C	ENSP00000263208:W201C	W	-	3	0	HIRA	17764361	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.119000	0.77145	2.655000	0.90218	0.655000	0.94253	TGG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.557	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	protein_coding	OTTHUMT00000316488.2	C	NM_003325	-		19384361	-1	no_errors	ENST00000263208	ensembl	human	known	74_37	missense	SNP	1.000	G	G	19384361	C	G	19384361	3	3	55	1	0	0	0	0	1	0	0	0	7122	856	30	4	2526	4	HIRA	22	19384361	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		19384361	31920205	55	3105											
FAM47C	442444	genome.wustl.edu	37	chrX	37028799	37028799	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgagactggagtgtcCcatctccacccagagcttcc	8	17	1	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chrX:37028799C>A	ENST00000358047.3	+	1	2368	c.2316C>A	c.(2314-2316)tcC>tcA	p.S772S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	772										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGTGTCCCATCTCCACC	0.632																																																	0								ENSG00000198173						41	41	41					X																	37028799		2202	4300	6502	FAM47C	SO:0001819	synonymous_variant	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2316C>A	X.37:g.37028799C>A		Somatic	0	131	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	172	155	52.28	Q6ZU46	Silent	SNP							NULL	p.S772	ENST00000358047.3	37	c.2316	CCDS35227.1	X																																																																																			-	NULL		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	C	NM_001013736	-		37028799	1	no_errors	ENST00000358047	ensembl	human	known	74_37	silent	SNP	0.059	A	A	37028799	C	A	37028799	2	1	55	1	0	0	0	0	0	0	0	1	5573	610	22	3		3	FAM47C	23	37028799	Silent	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09		37028799	118241761	56	3106											
RPA4	29935	genome.wustl.edu	37	chrX	96140083	96140083	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggatcgggagcattttaaGtctgctgattgaggcaggga	16	5	1	2			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chrX:96140083G>C	ENST00000373040.3	+	1	1177	c.774G>C	c.(772-774)aaG>aaC	p.K258N	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	258					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AGCATTTTAAGTCTGCTGATT	0.468								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000204086						81	71	74					X																	96140083		2203	4300	6503	RPA4	SO:0001583	missense	0			-	HGNC	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.774G>C	X.37:g.96140083G>C	ENSP00000362131:p.Lys258Asn	Somatic	0	17	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	17	56.41	Q3SY03	Missense_Mutation	SNP							pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32	p.K258N	ENST00000373040.3	37	c.774	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043267	0.36085	.	.	ENSG00000204086	ENST00000373040	T	0.46063	0.88	3.52	2.37	0.29283	Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.51278	0.1665	M	0.93420	3.415	0.09310	N	1	D	0.54047	0.964	B	0.43445	0.42	T	0.54846	-0.8232	9	0.87932	D	0	-27.831	4.4009	0.11386	0.8401:0.0:0.1599:0.0	.	258	Q13156	RFA4_HUMAN	N	258	ENSP00000362131:K258N	ENSP00000362131:K258N	K	+	3	2	RPA4	96026739	0.987000	0.35691	0.022000	0.16811	0.051000	0.14879	0.828000	0.27435	0.568000	0.29311	-0.340000	0.08031	AAG	-	pirsf_RPA32		0.468	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	protein_coding	OTTHUMT00000057464.1	G	NM_013347	-		96140083	1	no_errors	ENST00000373040	ensembl	human	known	74_37	missense	SNP	0.026	C	C	96140083	G	C	96140083	3	2	55	1	0	0	0	0	1	0	0	0	13547	1020	36	4	776	4	RPA4	23	96140083	Missense_Mutation	SNP	G	TCGA-DX-A3UE-01A-11D-A307-09	59111284	96140083	59130477	57	3107											
BTK	695	genome.wustl.edu	37	chrX	100615557	100615557	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggctggtgtggactcaccCatttttatctcgtgctctcc	10	12	3	0			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chrX:100615557C>G	ENST00000308731.7	-	8	938	c.775G>C	c.(775-777)Ggg>Cgg	p.G259R	BTK_ENST00000372880.1_Splice_Site_p.G259R	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	259	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGACTCACCCATTTTTATCT	0.498									Agammaglobulinemia, X-linked																																								0								ENSG00000010671						132	111	118					X																	100615557		2203	4300	6503	BTK	SO:0001630	splice_region_variant	0	Familial Cancer Database	Bruton Type Agammaglobulinemia	-	HGNC	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.776+1G>C	X.37:g.100615557C>G		Somatic	0	26	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	24	52.00	B2RAW1|Q32ML5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.G259R	ENST00000308731.7	37	c.775	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918709	0.92249	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	T;T	0.42900	0.96;0.96	5.98	5.98	0.97165	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.985	T	0.76099	-0.3083	10	0.87932	D	0	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	259;259;259	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	R	259	ENSP00000361971:G259R;ENSP00000308176:G259R	ENSP00000308176:G259R	G	-	1	0	BTK	100502213	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.200000	0.77838	2.532000	0.85374	0.594000	0.82650	GGG	-	pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain		0.498	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	protein_coding	OTTHUMT00000057532.2	C	NM_000061	-	Missense_Mutation	100615557	-1	no_errors	ENST00000308731	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100615557	C	G	100615557	5	3	55	1	0	0	0	0	0	0	1	0	1559	608	21	4	1252	4	BTK	23	100615557	Splice_Site	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	4475474	100615557	54655003	58	3108											
RAB9B	51209	genome.wustl.edu	37	chrX	103080663	103080663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataagcgaacttttcccaaCtccaccatcacccaagagaa	4	15	1	1			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chrX:103080663C>A	ENST00000243298.2	-	3	336	c.52G>T	c.(52-54)Gtt>Ttt	p.V18F		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	18					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CTTTTCCCAACTCCACCATCA	0.443																																																	0								ENSG00000123570						137	127	130					X																	103080663		2203	4300	6503	RAB9B	SO:0001583	missense	0			-	HGNC	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"RAB, member RAS oncogene"	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.52G>T	X.37:g.103080663C>A	ENSP00000243298:p.Val18Phe	Somatic	0	30	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	B2R8M0|Q52LX2	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V18F	ENST00000243298.2	37	c.52	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803382	0.70682	.	.	ENSG00000123570	ENST00000243298	D	0.83250	-1.7	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97462	1.0035	10	0.87932	D	0	.	16.5572	0.84488	0.0:1.0:0.0:0.0	.	18	Q9NP90	RAB9B_HUMAN	F	18	ENSP00000243298:V18F	ENSP00000243298:V18F	V	-	1	0	RAB9B	102967319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.518000	0.84900	0.600000	0.82982	GTT	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.443	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	protein_coding	OTTHUMT00000057746.1	C		-		103080663	-1	no_errors	ENST00000243298	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103080663	C	A	103080663	3	1	55	1	0	0	0	0	1	0	0	0	12967	565	20	3	557	3	RAB9B	23	103080663	Missense_Mutation	SNP	C	TCGA-DX-A3UE-01A-11D-A307-09	2465106	103080663	52189897	59	3109											
THOC2	57187	genome.wustl.edu	37	chrX	122756709	122756709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatctctcccttgattTatctgaaataaaagtaaggt	7	7	2	3			TCGA-DX-A3UE-01A-11D-A307-09	TCGA-DX-A3UE-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99becc09-c06c-445f-946c-0d4950325629	2ae737e8-11a5-4237-9e76-1dc179ac3d11	g.chrX:122756709T>G	ENST00000245838.8	-	30	3716	c.3685A>C	c.(3685-3687)Aaa>Caa	p.K1229Q	THOC2_ENST00000491737.1_Missense_Mutation_p.K1114Q|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Missense_Mutation_p.K1229Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1229					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCCTTGATTTATCTGAAATA	0.338																																																	0								ENSG00000125676						83	66	71					X																	122756709		1819	4067	5886	THOC2	SO:0001583	missense	0			-	HGNC	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3685A>C	X.37:g.122756709T>G	ENSP00000245838:p.Lys1229Gln	Somatic	0	51	0		0.698595117483839				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	47	49.46	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP							pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.K1229Q	ENST00000245838.8	37	c.3685	CCDS43988.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.74|12.74	2.029022|2.029022	0.35797|0.35797	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	T;T;T|.	0.42513|.	0.97;0.97;0.97|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.56615|.	0.1997|.	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999995|0.999995	D|.	0.53619|.	0.961|.	P|.	0.47206|.	0.541|.	T|.	0.53549|.	-0.8423|.	9|.	.|.	.|.	.|.	-17.4268|-17.4268	14.9574|14.9574	0.71127|0.71127	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1229|.	Q8NI27|.	THOC2_HUMAN|.	Q|S	1229;1229;1114|323	ENSP00000245838:K1229Q;ENSP00000347959:K1229Q;ENSP00000419795:K1114Q|.	.|.	K|X	-|-	1|2	0|2	THOC2|THOC2	122584390|122584390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.393000|5.393000	0.66279|0.66279	1.915000|1.915000	0.55452|0.55452	0.437000|0.437000	0.28790|0.28790	AAA|TAA	-	NULL		0.338	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	protein_coding	OTTHUMT00000058153.3	T		-		122756709	-1	no_errors	ENST00000245838	ensembl	human	known	74_37	missense	SNP	1.000	G	G	122756709	T	G	122756709	3	3	55	1	0	0	0	0	1	0	0	0	15872	1763	61	5	1132	5	THOC2	23	122756709	Missense_Mutation	SNP	T	TCGA-DX-A3UE-01A-11D-A307-09	19676046	122756709	32513851	60	3110											
NOC2L	26155	genome.wustl.edu	37	chr1	889433	889433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacacgaagcttccccCagagcgggctgctggacggc	13	15	0	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:889433C>A	ENST00000327044.6	-	7	777	c.728G>T	c.(727-729)tGg>tTg	p.W243L	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	243					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		AAGCTTCCCCCAGAGCGGGCT	0.667																																																	0								ENSG00000188976						77	74	75					1																	889433		2203	4300	6503	NOC2L	SO:0001583	missense	0			-	HGNC	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.728G>T	1.37:g.889433C>A	ENSP00000317992:p.Trp243Leu	Somatic	0	92	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5SVA3|Q9BTN6	Missense_Mutation	SNP							pfam_Noc2,superfamily_ARM-type_fold	p.W243L	ENST00000327044.6	37	c.728	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264140	0.59431	.	.	ENSG00000188976	ENST00000327044	T	0.65732	-0.17	4.11	4.11	0.48088	.	0.071222	0.64402	D	0.000009	T	0.80166	0.4573	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.973;1.0	D;P;D	0.91635	0.999;0.845;0.999	D	0.84054	0.0371	10	0.72032	D	0.01	-11.3646	15.5423	0.76062	0.0:1.0:0.0:0.0	.	243;243;10	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	L	243	ENSP00000317992:W243L	ENSP00000317992:W243L	W	-	2	0	NOC2L	879296	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.506000	0.73712	2.135000	0.66039	0.306000	0.20318	TGG	-	NULL		0.667	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	protein_coding	OTTHUMT00000097869.1	C	NM_015658	-		889433	-1	no_errors	ENST00000327044	ensembl	human	known	74_37	missense	SNP	1.000	A	A	889433	C	A	889433	3	1	56	1	0	0	0	0	1	0	0	0	10515	595	21	3	1573	3	NOC2L	1	889433	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09		889433	248361188	1	3111											
PRAMEF22	653606	genome.wustl.edu	37	chr1	13038350	13038350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccactgagcaactggagtTcaatttttgcttgtggggaa	12	8	1	1	rs200724140		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:13038350T>C	ENST00000376187.1	+	3	1415	c.1415T>C	c.(1414-1416)tTc>tCc	p.F472S	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	472					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)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CAACTGGAGTTCAATTTTTGC	0.498																																																	0								ENSG00000204508						1	1	1					1																	13038350		305	658	963	PRAMEF22	SO:0001583	missense	0			-	HGNC			1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.1415T>C	1.37:g.13038350T>C	ENSP00000365358:p.Phe472Ser	Somatic	0	27	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	5	37.50	A6NMM3	Missense_Mutation	SNP							NULL	p.F472S	ENST00000376187.1	37	c.1415	CCDS41256.1	1	.	.	.	.	.	.	.	.	.	.	.	5.614	0.298059	0.10622	.	.	ENSG00000204508	ENST00000376187	T	0.01252	5.1	1.15	-2.3	0.06785	.	1.738730	0.03932	N	0.285344	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	P	0.40250	0.709	B	0.40534	0.332	T	0.44772	-0.9306	10	0.13853	T	0.58	.	4.5385	0.12045	0.0:0.5475:0.0:0.4525	.	472	A3QJZ6	PRA22_HUMAN	S	472	ENSP00000365358:F472S	ENSP00000365358:F472S	F	+	2	0	PRAMEF22	12960937	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.654000	0.05354	-0.618000	0.05656	0.156000	0.16432	TTC	-	NULL		0.498	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	protein_coding	OTTHUMT00000158511.1	T	NM_001100631	rs200724140		13038350	1	no_errors	ENST00000376187	ensembl	human	known	74_37	missense	SNP	0.000	C	C	13038350	T	C	13038350	3	2	56	1	0	0	0	0	1	0	0	0	12441	1783	62	5	1425	5	PRAMEF22	1	13038350	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	12148917	13038350	236212271	2	3112											
PTPRU	10076	genome.wustl.edu	37	chr1	29602257	29602257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaggtcactttccagaCggatgaggatggtaagagtc	14	7	1	3	rs574283151	byFrequency	TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:29602257C>T	ENST00000345512.3	+	8	1571	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	PTPRU_ENST00000323874.8_Missense_Mutation_p.T481M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T481M|PTPRU_ENST00000356870.3_Missense_Mutation_p.T481M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T481M|PTPRU_ENST00000373779.3_Missense_Mutation_p.T481M	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	481	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTTTCCAGACGGATGAGGAT	0.522													C|||	2	0.000399361	0	0.0029	5008	,	,		18828	0		0	False		,,,				2504	0																0								ENSG00000060656						68	57	61					1																	29602257		2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1442C>T	1.37:g.29602257C>T	ENSP00000334941:p.Thr481Met	Somatic	0	33	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	9	64.00	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T481M	ENST00000345512.3	37	c.1442	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948211	0.92593	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.4	5.4	0.78164	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.77486	2.375	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	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.80171	-0.1493	9	.	.	.	.	18.5309	0.90992	0.0:1.0:0.0:0.0	.	481;481;481;481;481	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	481	ENSP00000334941:T481M;ENSP00000362884:T481M;ENSP00000349333:T481M;ENSP00000314987:T481M;ENSP00000392332:T481M;ENSP00000432906:T481M	.	T	+	2	0	PTPRU	29474844	1.000000	0.71417	0.962000	0.40283	0.962000	0.63368	7.776000	0.85560	2.695000	0.91970	0.643000	0.83706	ACG	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.522	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	C		-		29602257	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29602257	C	T	29602257	3	4	56	1	0	0	0	0	1	0	0	0	12821	536	19	1	1472	1	PTPRU	1	29602257	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	16563907	29602257	219648364	3	3113											
GLIS1	148979	genome.wustl.edu	37	chr1	54059922	54059922	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcgctggtcgatgtggctCttctcgatgtgccgcaccag	13	12	2	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:54059922C>T	ENST00000312233.2	-	3	1220	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGATGTGGCTCTTCTCGATGT	0.672																																																	0								ENSG00000174332						85	63	71					1																	54059922		2203	4300	6503	GLIS1	SO:0001819	synonymous_variant	0			-	HGNC	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.654G>A	1.37:g.54059922C>T		Somatic	0	56	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	14	67.44		Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K218	ENST00000312233.2	37	c.654	CCDS582.1	1																																																																																			-	smart_Znf_C2H2-like		0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	protein_coding	OTTHUMT00000022109.1	C	NM_147193	-		54059922	-1	no_errors	ENST00000312233	ensembl	human	known	74_37	silent	SNP	1.000	T	T	54059922	C	T	54059922	2	4	56	1	0	0	0	0	0	0	0	1	6447	912	32	2		2	GLIS1	1	54059922	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	24457665	54059922	195190699	4	3114											
LRRC40	55631	genome.wustl.edu	37	chr1	70611568	70611568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaggaactcggaatggaTttccatccagtagtaatgtt	10	8	0	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:70611568T>C	ENST00000370952.3	-	15	1803	c.1724A>G	c.(1723-1725)aAt>aGt	p.N575S		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	575						membrane (GO:0016020)				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						TCGGAATGGATTTCCATCCAG	0.328																																																	0								ENSG00000066557						72	69	70					1																	70611568		2203	4300	6503	LRRC40	SO:0001583	missense	0			-	HGNC		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.1724A>G	1.37:g.70611568T>C	ENSP00000359990:p.Asn575Ser	Somatic	0	73	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N575S	ENST00000370952.3	37	c.1724	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394981	0.83011	.	.	ENSG00000066557	ENST00000370952	T	0.72505	-0.66	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.90019	3.08	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.88007	0.2760	10	0.87932	D	0	.	14.6161	0.68549	0.0:0.0:0.0:1.0	.	575	Q9H9A6	LRC40_HUMAN	S	575	ENSP00000359990:N575S	ENSP00000359990:N575S	N	-	2	0	LRRC40	70384156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.457000	0.73505	1.919000	0.55581	0.533000	0.62120	AAT	-	NULL		0.328	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	protein_coding	OTTHUMT00000025914.1	T	NM_017768	-		70611568	-1	no_errors	ENST00000370952	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70611568	T	C	70611568	3	2	56	1	0	0	0	0	1	0	0	0	9000	1493	52	5	88	5	LRRC40	1	70611568	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	16551646	70611568	178639053	5	3115											
VTCN1	79679	genome.wustl.edu	37	chr1	117690386	117690386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagcagctgtaggtgactcCgccttttgatctccgattct	9	11	2	2			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:117690386C>T	ENST00000369458.3	-	5	821	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	VTCN1_ENST00000328189.3_Missense_Mutation_p.R132Q|VTCN1_ENST00000539893.1_Missense_Mutation_p.R153Q|VTCN1_ENST00000359008.4_Missense_Mutation_p.R251Q	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TAGGTGACTCCGCCTTTTGAT	0.458																																																	0								ENSG00000134258						121	113	116					1																	117690386		2203	4300	6503	VTCN1	SO:0001583	missense	0			-	HGNC	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.743G>A	1.37:g.117690386C>T	ENSP00000358470:p.Arg248Gln	Somatic	0	90	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53		Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R251Q	ENST00000369458.3	37	c.752	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332110	0.41297	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.23348	3.42;3.4;1.91;3.63	5.49	2.65	0.31530	.	0.236214	0.29767	N	0.011241	T	0.03136	0.0092	N	0.11560	0.145	0.27286	N	0.957971	B;B	0.18461	0.028;0.002	B;B	0.08055	0.003;0.001	T	0.42378	-0.9455	10	0.23891	T	0.37	-14.2247	4.1884	0.10409	0.15:0.5359:0.0:0.3141	.	132;248	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	Q	248;251;132;153	ENSP00000358470:R248Q;ENSP00000351899:R251Q;ENSP00000328168:R132Q;ENSP00000444724:R153Q	ENSP00000328168:R132Q	R	-	2	0	VTCN1	117491909	0.827000	0.29292	0.983000	0.44433	0.993000	0.82548	0.337000	0.19841	0.453000	0.26858	0.655000	0.94253	CGG	-	NULL		0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	protein_coding	OTTHUMT00000033500.2	C	NM_024626	-		117690386	-1	no_errors	ENST00000359008	ensembl	human	known	74_37	missense	SNP	0.962	T	T	117690386	C	T	117690386	3	4	56	1	0	0	0	0	1	0	0	0	17241	652	23	1	109	1	VTCN1	1	117690386	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	47078818	117690386	131560235	6	3116											
C1orf77	26097	genome.wustl.edu	37	chr1	153615716	153615716	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctaaggtcaaaacctgctCcgaggtggacgagccgtagc	12	12	2	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:153615716C>T	ENST00000368694.3	+	5	729	c.417C>T	c.(415-417)ctC>ctT	p.L139L	CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368687.1_Silent_p.L114L|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000368690.3_Intron	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	139	Arg/Gly-rich.				mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AAAACCTGCTCCGAGGTGGAC	0.532																																																	0								ENSG00000160679						121	120	121					1																	153615716		2203	4300	6503	CHTOP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"small protein rich in arginine and glycine", "Friend of Prmt1"	614206	"chromosome 1 open reading frame 77"	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.417C>T	1.37:g.153615716C>T		Somatic	0	65	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	30.65	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Silent	SNP							NULL	p.L139	ENST00000368694.3	37	c.417	CCDS1048.1	1																																																																																			-	NULL		0.532	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHTOP	protein_coding	OTTHUMT00000089967.1	C	NM_015607	-		153615716	1	no_errors	ENST00000368694	ensembl	human	known	74_37	silent	SNP	1.000	T	T	153615716	C	T	153615716	2	4	56	1	0	0	0	0	0	0	0	1	2061	842	30	2		2	C1orf77	1	153615716	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	35925330	153615716	95634905	7	3117											
FDPS	2224	genome.wustl.edu	37	chr1	155288023	155288023	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcatgtatctaccgcctgCtgaagctctattgccgggag	11	11	2	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:155288023C>G	ENST00000356657.6	+	6	787	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1_ENST00000368352.5_5'Flank|FDPS_ENST00000368356.4_Missense_Mutation_p.L209V|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.L143V|RUSC1-AS1_ENST00000450199.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	209					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTACCGCCTGCTGAAGCTCTA	0.537																																																	0								ENSG00000160752						77	73	75					1																	155288023		2203	4300	6503	FDPS	SO:0001583	missense	0			-	HGNC	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.625C>G	1.37:g.155288023C>G	ENSP00000349078:p.Leu209Val	Somatic	0	64	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP							pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L209V	ENST00000356657.6	37	c.625	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523529	0.64747	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.68765	-0.35;-0.35;-0.35	3.75	0.851	0.18989	Terpenoid synthase (2);	0.000000	0.30901	N	0.008642	T	0.66867	0.2833	M	0.85462	2.755	0.47183	D	0.999342	D	0.53619	0.961	P	0.54856	0.762	T	0.69591	-0.5104	10	0.72032	D	0.01	-14.4645	8.0541	0.30596	0.0:0.7418:0.0:0.2582	.	209	P14324	FPPS_HUMAN	V	143;209;209	ENSP00000391755:L143V;ENSP00000357340:L209V;ENSP00000349078:L209V	ENSP00000349078:L209V	L	+	1	2	FDPS	153554647	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	1.937000	0.40193	0.195000	0.20347	0.467000	0.42956	CTG	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.537	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	protein_coding	OTTHUMT00000039053.1	C	NM_002004	-		155288023	1	no_errors	ENST00000356657	ensembl	human	known	74_37	missense	SNP	1.000	G	G	155288023	C	G	155288023	3	3	56	1	0	0	0	0	1	0	0	0	5805	796	28	4	643	4	FDPS	1	155288023	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	1672307	155288023	93962598	8	3118											
OR10Z1	128368	genome.wustl.edu	37	chr1	158577164	158577164	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggagattgctgggtaaAggatgaaggttaccccaata	14	5	0	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:158577164A>G	ENST00000361284.1	+	1	936	c.936A>G	c.(934-936)aaA>aaG	p.K312K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTGGGTAAAGGATGAAGGT	0.488																																																	0								ENSG00000198967						94	95	95					1																	158577164		2203	4300	6503	OR10Z1	SO:0001819	synonymous_variant	0			-	HGNC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.936A>G	1.37:g.158577164A>G		Somatic	0	46	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	Q5VYL0|Q6IFR7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K312	ENST00000361284.1	37	c.936	CCDS30901.1	1																																																																																			-	NULL		0.488	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	protein_coding	OTTHUMT00000051853.1	A	NM_001004478	-		158577164	1	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	SNP	0.009	G	G	158577164	A	G	158577164	2	3	56	1	0	0	0	0	0	0	0	1	10925	69	3	5		5	OR10Z1	1	158577164	Silent	SNP	A	TCGA-DX-A3UF-01A-11D-A307-09	3289141	158577164	90673457	9	3119											
DCAF8	50717	genome.wustl.edu	37	chr1	160187383	160187383	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccacctaggtatgaggcctCaagatggcatgcactgcacc	10	14	1	2			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:160187383C>T	ENST00000368073.3	-	14	2227	c.1793G>A	c.(1792-1794)tGa>tAa	p.*598*	DCAF8_ENST00000608310.1_Silent_p.*752*|DCAF8_ENST00000556710.1_Silent_p.*752*|DCAF8_ENST00000368074.1_Silent_p.*598*|DCAF8_ENST00000326837.2_Silent_p.*598*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	0					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						TATGAGGCCTCAAGATGGCAT	0.622																																																	0								ENSG00000132716						48	47	48					1																	160187383		2203	4300	6503	DCAF8	SO:0001819	synonymous_variant	0			-	HGNC	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.1793G>A	1.37:g.160187383C>T		Somatic	0	27	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	13	59.46	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Silent	SNP							pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.*752	ENST00000368073.3	37	c.2255	CCDS1200.1	1																																																																																			-	NULL		0.622	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	protein_coding	OTTHUMT00000077402.2	C	NM_015726	-		160187383	-1	no_errors	ENST00000608310	ensembl	human	known	74_37	silent	SNP	1.000	T	T	160187383	C	T	160187383	2	4	56	1	0	0	0	0	0	0	0	1	4278	837	29	2		2	DCAF8	1	160187383	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	1610219	160187383	89063238	10	3120			1	41		2	2	24	N	G_C	4.680615e-05
DCAF8	50717	genome.wustl.edu	37	chr1	160187406	160187406	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatggcatgcactgcacccgGtcagggccctcctcctcgtc	11	17	1	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:160187406G>C	ENST00000368073.3	-	14	2204	c.1770C>G	c.(1768-1770)gaC>gaG	p.D590E	DCAF8_ENST00000608310.1_Missense_Mutation_p.D744E|DCAF8_ENST00000556710.1_Missense_Mutation_p.D744E|DCAF8_ENST00000368074.1_Missense_Mutation_p.D590E|DCAF8_ENST00000326837.2_Missense_Mutation_p.D590E			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	590					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						ACTGCACCCGGTCAGGGCCCT	0.647																																																	0								ENSG00000132716						56	56	56					1																	160187406		2203	4300	6503	DCAF8	SO:0001583	missense	0			-	HGNC	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.1770C>G	1.37:g.160187406G>C	ENSP00000357052:p.Asp590Glu	Somatic	0	33	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	15	65.12	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP							pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D744E	ENST00000368073.3	37	c.2232	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142350	0.77888	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.07;-0.07	5.23	4.32	0.51571	.	0.000000	0.64402	U	0.000015	T	0.66877	0.2834	L	0.58428	1.81	0.58432	D	0.999997	D;D	0.61697	0.99;0.984	D;D	0.75484	0.986;0.952	T	0.66540	-0.5898	10	0.30854	T	0.27	-7.0088	8.9913	0.36026	0.1691:0.0:0.8309:0.0	.	744;590	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	E	590;590;590;744;571;744	ENSP00000357052:D590E;ENSP00000318227:D590E;ENSP00000357053:D590E;ENSP00000451989:D744E;ENSP00000451235:D744E	ENSP00000318227:D590E	D	-	3	2	RP11-574F21.3;DCAF8	158454030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.104000	0.50306	1.441000	0.47550	0.655000	0.94253	GAC	-	NULL		0.647	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	protein_coding	OTTHUMT00000077402.2	G	NM_015726	-		160187406	-1	no_errors	ENST00000608310	ensembl	human	known	74_37	missense	SNP	1.000	C	C	160187406	G	C	160187406	3	2	56	1	0	0	0	0	1	0	0	0	4278	1252	44	4	27	4	DCAF8	1	160187406	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	23	160187406	89063215	11	3121			1	41		2	2	24	N	G_C	4.680615e-05
ASTN1	460	genome.wustl.edu	37	chr1	177133566	177133566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctccgtgttctccaggtCgtccaccacgaccatttctc	7	17	2	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:177133566C>T	ENST00000367654.3	-	1	458	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ASTN1_ENST00000361833.2_Missense_Mutation_p.D83N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D83N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D83N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	83					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTCTCCAGGTCGTCCACCACG	0.682																																																	0								ENSG00000152092						50	42	45					1																	177133566		2203	4300	6503	ASTN1	SO:0001583	missense	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.247G>A	1.37:g.177133566C>T	ENSP00000356626:p.Asp83Asn	Somatic	0	50	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.00	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.D83N	ENST00000367654.3	37	c.247		1	.	.	.	.	.	.	.	.	.	.	C	33	5.206597	0.95033	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.25085	1.82;2.23;2.23;1.83	2.94	2.94	0.34122	.	0.073363	0.52532	U	0.000064	T	0.44329	0.1288	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;P	0.77557	0.99;0.99;0.698	T	0.48768	-0.9006	10	0.72032	D	0.01	-21.142	13.9229	0.63942	0.0:1.0:0.0:0.0	.	83;83;83	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	83	ENSP00000356629:D83N;ENSP00000354536:D83N;ENSP00000356626:D83N;ENSP00000395041:D83N	ENSP00000354536:D83N	D	-	1	0	ASTN1	175400189	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.204000	0.77872	1.659000	0.50751	0.385000	0.25706	GAC	-	NULL		0.682	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		C	NM_004319	-		177133566	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	SNP	1.000	T	T	177133566	C	T	177133566	3	4	56	1	0	0	0	0	1	0	0	0	1064	884	31	1	3733	1	ASTN1	1	177133566	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	16946160	177133566	72117055	12	3122											
OR2T33	391195	genome.wustl.edu	37	chr1	248436695	248436695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacacgacatggtcatcCtcaggcacagctgccagctc	9	16	2	0	rs71642437		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:248436695C>T	ENST00000318021.2	-	1	443	c.422G>A	c.(421-423)aGg>aAg	p.R141K		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	141						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(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CATGGTCATCCTCAGGCACAG	0.582																																																	0								ENSG00000177212						128	122	124					1																	248436695		2203	4300	6503	OR2T33	SO:0001583	missense	0			-	HGNC		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.422G>A	1.37:g.248436695C>T	ENSP00000324687:p.Arg141Lys	Somatic	0	259	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	161	20.69	B2RNN0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R141K	ENST00000318021.2	37	c.422	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	5.681	0.310225	0.10733	.	.	ENSG00000177212	ENST00000318021	T	0.00115	8.71	2.52	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	1.546670	0.04758	U	0.425746	T	0.00073	0.0002	N	0.12502	0.225	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.12319	-1.0552	10	0.45353	T	0.12	.	2.7156	0.05186	0.1395:0.1381:0.1396:0.5828	.	141	Q8NG76	O2T33_HUMAN	K	141	ENSP00000324687:R141K	ENSP00000324687:R141K	R	-	2	0	OR2T33	246503318	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-4.625000	0.00207	-0.865000	0.04073	0.494000	0.49563	AGG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.582	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	protein_coding	OTTHUMT00000097354.1	C	NM_001004695	rs71642437		248436695	-1	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	SNP	0.000	T	T	248436695	C	T	248436695	3	4	56	1	0	0	0	0	1	0	0	0	11026	681	24	2	543	2	OR2T33	1	248436695	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	71303129	248436695	813926	13	3123											
OR2T4	127074	genome.wustl.edu	37	chr1	248525837	248525837	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactccagtggtgaacCctttaatctatagtcttagg	7	11	3	1	rs375159583		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr1:248525837C>A	ENST00000366475.1	+	1	955	c.955C>A	c.(955-957)Cct>Act	p.P319T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			AGTGGTGAACCCTTTAATCTA	0.458																																																	0								ENSG00000196944						140	139	139					1																	248525837		2203	4300	6503	OR2T4	SO:0001583	missense	0			-	HGNC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.955C>A	1.37:g.248525837C>A	ENSP00000355431:p.Pro319Thr	Somatic	0	244	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	165	15.82	Q6IEZ8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P319T	ENST00000366475.1	37	c.955	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675482	0.29783	.	.	ENSG00000196944	ENST00000366475	T	0.63913	-0.07	2.87	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000279	T	0.79131	0.4394	M	0.91038	3.17	0.36512	D	0.869679	D	0.60160	0.987	P	0.62813	0.907	D	0.83903	0.0291	10	0.87932	D	0	.	10.5129	0.44872	0.196:0.804:0.0:0.0	.	319	Q8NH00	OR2T4_HUMAN	T	319	ENSP00000355431:P319T	ENSP00000355431:P319T	P	+	1	0	OR2T4	246592460	0.916000	0.31088	0.875000	0.34327	0.057000	0.15508	3.115000	0.50391	0.381000	0.24851	0.485000	0.47835	CCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.458	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	protein_coding	OTTHUMT00000097349.2	C	NM_001004696	-		248525837	1	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	SNP	0.996	A	A	248525837	C	A	248525837	3	1	56	1	0	0	0	0	1	0	0	0	11029	623	22	3	957	3	OR2T4	1	248525837	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	89142	248525837	724784	14	3124											
EMX1	2016	genome.wustl.edu	37	chr2	73160999	73160999	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgagtccgagcagaagaaGaagggctcccatcacatcaa	10	12	2	4			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr2:73160999G>A	ENST00000258106.6	+	3	1167	c.789G>A	c.(787-789)aaG>aaA	p.K263K	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	230					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K263K(1)		cervix(1)|large_intestine(2)|lung(3)	6						AGCAGAAGAAGAAGGGCTCCC	0.582																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000135638						72	83	79					2																	73160999		2123	4243	6366	EMX1	SO:0001819	synonymous_variant	0			-	HGNC	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.789G>A	2.37:g.73160999G>A		Somatic	0	54	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	Q0D2P0|Q53T30|Q86XB0	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.K263	ENST00000258106.6	37	c.789	CCDS1921.2	2																																																																																			-	NULL		0.582	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX1	protein_coding	OTTHUMT00000251994.3	G		-		73160999	1	no_errors	ENST00000258106	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73160999	G	A	73160999	2	1	56	1	0	0	0	0	0	0	0	1	5109	933	33	2		2	EMX1	2	73160999	Silent	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		73160999	170038374	15	3125											
KDM3A	55818	genome.wustl.edu	37	chr2	86693527	86693527	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtttaccagaggaaatttCttcctgtctaaatacaaagt	6	7	2	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr2:86693527C>T	ENST00000409556.1	+	11	1405	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	KDM3A_ENST00000542128.1_Missense_Mutation_p.S295F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S347F|KDM3A_ENST00000409064.1_Missense_Mutation_p.S347F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	347					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGGAAATTTCTTCCTGTCTA	0.388																																					NSCLC(96;1150 1523 6936 46253 49736)												0								ENSG00000115548						97	119	112					2																	86693527		2197	4298	6495	KDM3A	SO:0001583	missense	0			-	HGNC	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1040C>T	2.37:g.86693527C>T	ENSP00000386660:p.Ser347Phe	Somatic	0	96	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	31	63.53	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S347F	ENST00000409556.1	37	c.1040	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490963	0.64074	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.93	5.93	0.95920	.	0.191419	0.38217	N	0.001765	T	0.53238	0.1784	N	0.19112	0.55	0.34961	D	0.752236	B;B	0.29590	0.25;0.162	B;B	0.40228	0.323;0.172	T	0.64245	-0.6453	10	0.66056	D	0.02	.	17.5066	0.87747	0.0:1.0:0.0:0.0	.	295;347	F5H070;Q9Y4C1	.;KDM3A_HUMAN	F	347;347;347;347;295	ENSP00000386660:S347F;ENSP00000323659:S347F;ENSP00000386516:S347F;ENSP00000438324:S295F	ENSP00000323659:S347F	S	+	2	0	KDM3A	86547038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.465000	0.60141	2.808000	0.96608	0.655000	0.94253	TCT	-	NULL		0.388	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	protein_coding	OTTHUMT00000252522.2	C	NM_018433	-		86693527	1	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	SNP	0.987	T	T	86693527	C	T	86693527	3	4	56	1	0	0	0	0	1	0	0	0	8128	913	32	2	1074	2	KDM3A	2	86693527	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	13532528	86693527	156505846	16	3126											
CKAP2L	150468	genome.wustl.edu	37	chr2	113513773	113513773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcttatgctaggggtgCttggaatggctgaattaaat	13	4	1	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr2:113513773C>A	ENST00000302450.6	-	4	1253	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.S227I	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	392						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GCTAGGGGTGCTTGGAATGGC	0.403																																																	0								ENSG00000169607						185	180	182					2																	113513773		2203	4300	6503	CKAP2L	SO:0001583	missense	0			-	HGNC	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1175G>T	2.37:g.113513773C>A	ENSP00000305204:p.Ser392Ile	Somatic	0	116	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	90	8.16	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP							NULL	p.S392I	ENST00000302450.6	37	c.1175	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672793	0.29693	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12672	2.66;3.32	4.42	2.43	0.29744	.	0.160631	0.40728	N	0.001033	T	0.18676	0.0448	M	0.68317	2.08	0.30785	N	0.741569	P	0.44044	0.825	P	0.48063	0.565	T	0.09796	-1.0658	10	0.87932	D	0	-0.5724	4.4865	0.11792	0.2109:0.664:0.0:0.1251	.	392	Q8IYA6	CKP2L_HUMAN	I	227;392	ENSP00000438763:S227I;ENSP00000305204:S392I	ENSP00000305204:S392I	S	-	2	0	CKAP2L	113230244	0.999000	0.42202	0.998000	0.56505	0.400000	0.30750	0.595000	0.24029	0.674000	0.31244	0.585000	0.79938	AGC	-	NULL		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	protein_coding	OTTHUMT00000254082.2	C	NM_152515	-		113513773	-1	no_errors	ENST00000302450	ensembl	human	known	74_37	missense	SNP	0.999	A	A	113513773	C	A	113513773	3	1	56	1	0	0	0	0	1	0	0	0	3445	797	28	3	1086	3	CKAP2L	2	113513773	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	26820246	113513773	129685600	17	3127											
RPUSD3	285367	genome.wustl.edu	37	chr3	9885671	9885671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcccaaaacacggcggccgtCcatctcccgagccaggacag	11	17	1	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:9885671C>A	ENST00000383820.5	-	1	29	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	RPUSD3_ENST00000433535.2_Missense_Mutation_p.D10Y|RPUSD3_ENST00000485705.1_Intron|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_5'Flank	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	10					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CGGCGGCCGTCCATCTCCCGA	0.692																																																	0								ENSG00000156990						9	12	11					3																	9885671		2168	4266	6434	RPUSD3	SO:0001583	missense	0			-	HGNC	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.28G>T	3.37:g.9885671C>A	ENSP00000373331:p.Asp10Tyr	Somatic	0	20	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP							pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.D10Y	ENST00000383820.5	37	c.28	CCDS2586.2	3	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882424	0.33255	.	.	ENSG00000156990	ENST00000433535;ENST00000383820;ENST00000418713;ENST00000433972	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.41	0.341	0.15991	.	1.544930	0.03684	N	0.246010	T	0.38453	0.1041	L	0.36672	1.1	0.34924	D	0.748725	B;B;B	0.30664	0.012;0.167;0.289	B;B;B	0.31337	0.003;0.128;0.037	T	0.36696	-0.9737	10	0.62326	D	0.03	.	4.4016	0.11390	0.0:0.4222:0.3591:0.2188	.	2;10;10	B7Z3P5;Q6P087-2;Q6P087	.;.;RUSD3_HUMAN	Y	10;10;6;25	ENSP00000398921:D10Y;ENSP00000373331:D10Y;ENSP00000415616:D6Y;ENSP00000395446:D25Y	ENSP00000373331:D10Y	D	-	1	0	RPUSD3	9860671	0.144000	0.22641	0.067000	0.19924	0.006000	0.05464	0.205000	0.17356	0.047000	0.15862	-0.181000	0.13052	GAC	-	NULL		0.692	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	protein_coding	OTTHUMT00000250238.1	C	NM_173659	-		9885671	-1	no_errors	ENST00000383820	ensembl	human	known	74_37	missense	SNP	0.076	A	A	9885671	C	A	9885671	3	1	56	1	0	0	0	0	1	0	0	0	13676	855	30	3	1063	3	RPUSD3	3	9885671	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09		9885671	188136759	18	3128											
OXSM	54995	genome.wustl.edu	37	chr3	25832990	25832990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgattcctcttgaagttgTttctgaaactgctttgaatt	7	6	2	4			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:25832990T>C	ENST00000280701.3	+	2	578	c.479T>C	c.(478-480)gTt>gCt	p.V160A	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Missense_Mutation_p.V160A|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	160					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTTGAAGTTGTTTCTGAAACT	0.433																																																	0								ENSG00000151093						99	102	101					3																	25832990		2203	4300	6503	OXSM	SO:0001583	missense	0			-	HGNC	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.479T>C	3.37:g.25832990T>C	ENSP00000280701:p.Val160Ala	Somatic	0	55	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20		Missense_Mutation	SNP							pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.V160A	ENST00000280701.3	37	c.479	CCDS2643.1	3	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571202	0.86542	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.370022	0.31404	N	0.007714	T	0.61726	0.2370	N	0.26042	0.785	0.46849	D	0.99922	B;P	0.38711	0.293;0.643	B;P	0.51806	0.121;0.68	T	0.64863	-0.6307	9	0.87932	D	0	-15.7176	16.8061	0.85666	0.0:0.0:0.0:1.0	.	160;160	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	A	160	.	ENSP00000280701:V160A	V	+	2	0	OXSM	25807994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.959000	0.87885	2.367000	0.80283	0.528000	0.53228	GTT	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2		0.433	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	protein_coding	OTTHUMT00000252876.2	T	NM_017897	-		25832990	1	no_errors	ENST00000280701	ensembl	human	known	74_37	missense	SNP	1.000	C	C	25832990	T	C	25832990	3	2	56	1	0	0	0	0	1	0	0	0	11337	1725	60	5	481	5	OXSM	3	25832990	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	15947319	25832990	172189440	19	3129											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-													tccaaagtgcattatgaaggAaaaaaaaaagcctggtgaga					rs79375991		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)						ENSG00000163513						89	92	91					3																	30691872		2203	4300	6503	TGFBR2	SO:0001589	frameshift_variant	0				HGNC		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs	Somatic	0	77	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL							pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	protein_coding	OTTHUMT00000252994.2	A				30691872	1	no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	30691872	A	-	30691872	7	5	56	1	0	1	0	1	0	0	0	0	15829	246	9	0	463	0	TGFBR2	3	30691872	Frame_Shift_Del	DEL	A	TCGA-DX-A3UF-01A-11D-A307-09	4858882	30691872	167330558	20	3130											
SLC22A14	9389	genome.wustl.edu	37	chr3	38354512	38354512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccggagtccccgcggTggctgatgatgaaagggaag	15	10	1	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:38354512T>C	ENST00000273173.4	+	5	1058	c.967T>C	c.(967-969)Tgg>Cgg	p.W323R	SLC22A14_ENST00000448498.1_Missense_Mutation_p.W323R	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	323					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTCCCCGCGGTGGCTGATGAT	0.592																																																	0								ENSG00000144671						53	52	52					3																	38354512		2200	4296	6496	SLC22A14	SO:0001583	missense	0			-	HGNC	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.967T>C	3.37:g.38354512T>C	ENSP00000273173:p.Trp323Arg	Somatic	0	58	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	47.46	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.W323R	ENST00000273173.4	37	c.967	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743231	0.69418	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.78126	-1.15;-1.15	4.14	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88883	0.6558	M	0.90705	3.14	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.90495	0.4470	10	0.87932	D	0	.	11.1683	0.48556	0.0:0.0:0.0:1.0	.	323	Q9Y267	S22AE_HUMAN	R	323	ENSP00000396283:W323R;ENSP00000273173:W323R	ENSP00000273173:W323R	W	+	1	0	SLC22A14	38329516	0.998000	0.40836	0.939000	0.37840	0.041000	0.13682	2.705000	0.47127	1.792000	0.52537	0.482000	0.46254	TGG	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	protein_coding	OTTHUMT00000253742.3	T	NM_004803	-		38354512	1	no_errors	ENST00000273173	ensembl	human	known	74_37	missense	SNP	0.996	C	C	38354512	T	C	38354512	3	2	56	1	0	0	0	0	1	0	0	0	14453	1696	59	5	985	5	SLC22A14	3	38354512	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	7662640	38354512	159667918	21	3131											
TLR9	54106	genome.wustl.edu	37	chr3	52255778	52255778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgccagggaagccaggCcaggcacaggtggaagcagt	15	14	0	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:52255778C>T	ENST00000360658.2	-	2	3187	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	TLR9_ENST00000597542.1_Missense_Mutation_p.A876T|TLR9_ENST00000494383.1_Missense_Mutation_p.G1005D	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	852					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGAAGCCAGGCCAGGCACAGG	0.642																																																	0								ENSG00000239732						55	55	55					3																	52255778		2203	4300	6503	TLR9	SO:0001583	missense	0			-	HGNC	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2554G>A	3.37:g.52255778C>T	ENSP00000353874:p.Ala852Thr	Somatic	0	71	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	65	13.16	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.A876T	ENST00000360658.2	37	c.2626	CCDS2848.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.481511|2.481511	0.44147|0.44147	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.34072|.	1.38|.	4.97|4.97	3.09|3.09	0.35607|0.35607	.|.	0.000000|.	0.37483|.	N|.	0.002069|.	T|T	0.65565|0.65565	0.2703|0.2703	M|M	0.77103|0.77103	2.36|2.36	0.40781|0.40781	D|D	0.983171|0.983171	B;B|.	0.28667|.	0.053;0.219|.	B;B|.	0.23275|.	0.033;0.045|.	T|T	0.65549|0.65549	-0.6141|-0.6141	10|5	0.52906|.	T|.	0.07|.	.|.	7.6588|7.6588	0.28392|0.28392	0.1621:0.7487:0.0:0.0892|0.1621:0.7487:0.0:0.0892	.|.	949;852|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	T|D	852|1005	ENSP00000353874:A852T|.	ENSP00000353874:A852T|.	A|G	-|-	1|2	0|0	TLR9|RP11-330H6.5	52230818|52230818	0.015000|0.015000	0.18098|0.18098	0.931000|0.931000	0.37212|0.37212	0.846000|0.846000	0.48090|0.48090	0.206000|0.206000	0.17375|0.17375	1.085000|1.085000	0.41206|0.41206	0.561000|0.561000	0.74099|0.74099	GCC|GGC	-	NULL		0.642	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	protein_coding	OTTHUMT00000350203.1	C		-		52255778	-1	no_errors	ENST00000597542	ensembl	human	known	74_37	missense	SNP	0.998	T	T	52255778	C	T	52255778	3	4	56	1	0	0	0	0	1	0	0	0	15965	739	26	2	548	2	TLR9	3	52255778	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	13901266	52255778	145766652	22	3132											
TRIM42	287015	genome.wustl.edu	37	chr3	140401655	140401655	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagtggcgctttgaccgCtcctccgggcccatcctctg	10	17	2	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:140401655C>A	ENST00000286349.3	+	2	884	c.693C>A	c.(691-693)cgC>cgA	p.R231R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	231						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTTTGACCGCTCCTCCGGGC	0.617																																																	0								ENSG00000155890						74	73	73					3																	140401655		2203	4300	6503	TRIM42	SO:0001819	synonymous_variant	0			-	HGNC	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.693C>A	3.37:g.140401655C>A		Somatic	0	79	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	101	10.62	A1L4B4|Q8N832|Q8NDL3	Silent	SNP							pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R231	ENST00000286349.3	37	c.693	CCDS3113.1	3																																																																																			-	NULL		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	protein_coding	OTTHUMT00000359531.2	C	NM_152616	-		140401655	1	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	SNP	0.290	A	A	140401655	C	A	140401655	2	1	56	1	0	0	0	0	0	0	0	1	16524	784	28	3		3	TRIM42	3	140401655	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	88145877	140401655	57620775	23	3133											
SIAH2	6478	genome.wustl.edu	37	chr3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-													gcggggacaccgggccggccCcgccgccgccgccggggccc					rs569310827		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	CCG	CCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr3:150480449_150480451delCCG	ENST00000312960.3	-	1	713_715	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G	SIAH2-AS1_ENST00000461943.1_RNA|SIAH2_ENST00000472885.1_Intron	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	62					axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764																																																	0								ENSG00000181788			31,18,2859		4,0,23,4,10,1413						1.9	1			6	73,0,6195		12,0,49,0,0,3073	no	codingComplex	SIAH2	NM_005067.5		16,0,72,4,10,4486	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1646,1.685,1.3296				104,18,9054				SIAH2	SO:0001651	inframe_deletion	0				HGNC	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.186_188delCGG	3.37:g.150480458_150480460delCCG	ENSP00000322457:p.Gly63del	Somatic	0	18	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	O43270	In_Frame_Del	DEL							pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH	p.G63in_frame_del	ENST00000312960.3	37	c.188_186	CCDS3152.1	3																																																																																			-	NULL		0.764	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAH2	protein_coding	OTTHUMT00000357697.1	CCG	NM_005067			150480451	-1	no_errors	ENST00000312960	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.993	-	-	150480451	CCG	-	150480449	7	5	56	1	0	1	0	1	0	0	0	0	14308	623	22	0	794	0	SIAH2	3	150480449	In_Frame_Del	DEL	CCG	TCGA-DX-A3UF-01A-11D-A307-09	10078794	150480449	47541981	24	3134											
ING2	3622	genome.wustl.edu	37	chr4	184431587	184431587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agattgttacacaaatgctcGaattggtggaaaatcgggca	11	6	0	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr4:184431587G>A	ENST00000302327.3	+	2	527	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ING2_ENST00000434682.2_Missense_Mutation_p.E69K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	109					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACAAATGCTCGAATTGGTGGA	0.398																																																	0								ENSG00000168556						100	111	108					4																	184431587		2203	4300	6503	ING2	SO:0001583	missense	0			-	HGNC	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.325G>A	4.37:g.184431587G>A	ENSP00000307183:p.Glu109Lys	Somatic	0	34	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B6ZDS1|O95698	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E109K	ENST00000302327.3	37	c.325	CCDS3833.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346644	0.82022	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	Double Clp-N motif (1);Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85318	0.5669	M	0.88450	2.955	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.79784	0.993;0.9	D	0.86653	0.1899	9	0.62326	D	0.03	-12.4342	19.6941	0.96016	0.0:0.0:1.0:0.0	.	69;109	B6ZDS1;Q9H160	.;ING2_HUMAN	K	109;69;69	.	ENSP00000307183:E109K	E	+	1	0	ING2	184668581	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	GAA	-	NULL		0.398	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING2	protein_coding	OTTHUMT00000318652.1	G	NM_001564	-		184431587	1	no_errors	ENST00000302327	ensembl	human	known	74_37	missense	SNP	1.000	A	A	184431587	G	A	184431587	3	1	56	1	0	0	0	0	1	0	0	0	7738	1059	37	1	331	1	ING2	4	184431587	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		184431587	6722689	25	3135											
RNASEN	29102	genome.wustl.edu	37	chr5	31511180	31511180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctttggaggttcccacGgaggccgagcagctttggcc	14	12	1	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr5:31511180G>T	ENST00000511367.2	-	8	1638	c.1394C>A	c.(1393-1395)cCg>cAg	p.P465Q	DROSHA_ENST00000344624.3_Missense_Mutation_p.P465Q|DROSHA_ENST00000442743.1_Missense_Mutation_p.P428Q|DROSHA_ENST00000513349.1_Missense_Mutation_p.P428Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	465					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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTTCCCACGGAGGCCGAGC	0.473																																																	0								ENSG00000113360						130	124	126					5																	31511180		1978	4172	6150	DROSHA	SO:0001583	missense	0			-	HGNC	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.1394C>A	5.37:g.31511180G>T	ENSP00000425979:p.Pro465Gln	Somatic	0	35	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.P465Q	ENST00000511367.2	37	c.1394	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551657	0.65311	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.44881	1.54;1.54;0.91;0.91	6.16	6.16	0.99307	.	0.157314	0.56097	D	0.000027	T	0.44561	0.1299	L	0.43923	1.385	0.39097	D	0.961219	P;P;P	0.51351	0.823;0.729;0.944	B;B;P	0.44647	0.415;0.236;0.456	T	0.25293	-1.0136	10	0.37606	T	0.19	-15.9154	20.8598	0.99761	0.0:0.0:1.0:0.0	.	397;428;465	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	Q	465;465;428;428;390;421	ENSP00000425979:P465Q;ENSP00000339845:P465Q;ENSP00000409335:P428Q;ENSP00000424161:P428Q	ENSP00000265075:P390Q	P	-	2	0	DROSHA	31546937	1.000000	0.71417	0.945000	0.38365	0.962000	0.63368	4.866000	0.63005	2.937000	0.99478	0.650000	0.86243	CCG	-	NULL		0.473	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	G	NM_013235	-		31511180	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	SNP	0.982	T	T	31511180	G	T	31511180	3	4	56	1	0	0	0	0	1	0	0	0	13425	1116	39	3	2842	3	RNASEN	5	31511180	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		31511180	149404080	26	3136											
ADAM22	53616	genome.wustl.edu	37	chr7	87797524	87797524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggccctcatattaggaaTaactgcgtggggttataagt	12	7	1	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr7:87797524T>C	ENST00000265727.7	+	25	2343	c.2264T>C	c.(2263-2265)aTa>aCa	p.I755T	ADAM22_ENST00000398201.4_Missense_Mutation_p.I755T|ADAM22_ENST00000398204.4_Missense_Mutation_p.I755T|ADAM22_ENST00000398209.3_Missense_Mutation_p.I755T|ADAM22_ENST00000315984.7_Missense_Mutation_p.I755T			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	755					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATATTAGGAATAACTGCGTGG	0.353																																																	0								ENSG00000008277						112	102	105					7																	87797524		1841	4090	5931	ADAM22	SO:0001583	missense	0			-	HGNC	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2264T>C	7.37:g.87797524T>C	ENSP00000265727:p.Ile755Thr	Somatic	0	75	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.00	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.I755T	ENST00000265727.7	37	c.2264	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328723	0.41197	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.48201	4.43;4.39;4.39;4.44;4.45;4.4;0.82	5.47	5.47	0.80525	.	0.145255	0.64402	D	0.000011	T	0.47507	0.1449	L	0.53249	1.67	0.45354	D	0.998349	P;P;B;P	0.42827	0.791;0.552;0.417;0.734	B;B;B;B	0.41764	0.366;0.199;0.098;0.302	T	0.49532	-0.8930	10	0.48119	T	0.1	.	14.8211	0.70074	0.0:0.0:0.0:1.0	.	807;755;755;755	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	T	755;755;755;755;755;722;113	ENSP00000381262:I755T;ENSP00000381260:I755T;ENSP00000265727:I755T;ENSP00000315900:I755T;ENSP00000381267:I755T;ENSP00000381261:I722T;ENSP00000396233:I113T	ENSP00000265727:I755T	I	+	2	0	ADAM22	87635460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.692000	0.54727	2.198000	0.70561	0.533000	0.62120	ATA	-	NULL		0.353	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	protein_coding	OTTHUMT00000268370.2	T	NM_021723	-		87797524	1	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	SNP	0.986	C	C	87797524	T	C	87797524	3	2	56	1	0	0	0	0	1	0	0	0	244	1406	49	5	2362	5	ADAM22	7	87797524	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09		87797524	71341139	27	3137											
CLDN15	24146	genome.wustl.edu	37	chr7	100877561	100877561	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttcccccagttaccgGccagaatgtggagggcccct	10	16	1	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr7:100877561G>C	ENST00000401528.1	-	3	1505	c.380C>G	c.(379-381)gCc>gGc	p.A127G	CLDN15_ENST00000308344.5_Missense_Mutation_p.A127G|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	127					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGTTACCGGCCAGAATGTG	0.622																																																	0								ENSG00000106404						49	57	55					7																	100877561		2202	4299	6501	CLDN15	SO:0001583	missense	0			-	HGNC	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.380C>G	7.37:g.100877561G>C	ENSP00000385300:p.Ala127Gly	Somatic	0	72	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	17	54.05	B3KPB5	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15	p.A127G	ENST00000401528.1	37	c.380	CCDS5717.1	7	.	.	.	.	.	.	.	.	.	.	G	6.468	0.454447	0.12283	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000412417	D;D;D	0.90324	-2.65;-2.65;-2.65	5.48	3.62	0.41486	.	0.457774	0.23731	N	0.045140	D	0.85410	0.5690	L	0.31207	0.915	0.23010	N	0.998433	B	0.15473	0.013	B	0.26969	0.075	T	0.72833	-0.4173	10	0.34782	T	0.22	.	13.613	0.62091	0.0:0.4561:0.5438:0.0	.	127	P56746	CLD15_HUMAN	G	127;127;104	ENSP00000308870:A127G;ENSP00000385300:A127G;ENSP00000390230:A104G	ENSP00000308870:A127G	A	-	2	0	CLDN15	100664281	0.007000	0.16637	0.527000	0.27925	0.001000	0.01503	1.488000	0.35551	0.633000	0.30452	-0.305000	0.09177	GCC	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin		0.622	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN15	protein_coding	OTTHUMT00000318698.1	G	NM_014343	-		100877561	-1	no_errors	ENST00000308344	ensembl	human	known	74_37	missense	SNP	0.680	C	C	100877561	G	C	100877561	3	2	56	1	0	0	0	0	1	0	0	0	3478	1203	42	4	322	4	CLDN15	7	100877561	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	13080037	100877561	58261102	28	3138											
MYOM2	9172	genome.wustl.edu	37	chr8	2044184	2044184	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattcagtggtggctcgccCatcctgggctactacctgga	11	12	1	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr8:2044184C>A	ENST00000262113.4	+	18	2364	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	MYOM2_ENST00000523438.1_Silent_p.P166P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	741	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGGCTCGCCCATCCTGGGCT	0.557																																																	0								ENSG00000036448						97	85	89					8																	2044184		2203	4300	6503	MYOM2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2223C>A	8.37:g.2044184C>A		Somatic	0	64	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	32	44.83	Q7Z3Y2	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P741	ENST00000262113.4	37	c.2223	CCDS5957.1	8																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	C	NM_003970	-		2044184	1	no_errors	ENST00000262113	ensembl	human	known	74_37	silent	SNP	0.325	A	A	2044184	C	A	2044184	2	1	56	1	0	0	0	0	0	0	0	1	10094	581	21	3		3	MYOM2	8	2044184	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09		2044184	144319838	29	3139											
FGFR1	2260	genome.wustl.edu	37	chr8	38285564	38285564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcagccggcactgcatGcaatttcttttccatctttt	7	12	2	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr8:38285564G>A	ENST00000447712.2	-	5	1437	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	FGFR1_ENST00000397091.5_Missense_Mutation_p.H164Y|FGFR1_ENST00000397113.2_Missense_Mutation_p.H164Y|FGFR1_ENST00000397103.1_Missense_Mutation_p.H75Y|FGFR1_ENST00000532791.1_Missense_Mutation_p.H166Y|FGFR1_ENST00000356207.5_Missense_Mutation_p.H77Y|FGFR1_ENST00000397108.4_Missense_Mutation_p.H164Y|FGFR1_ENST00000425967.3_Missense_Mutation_p.H197Y|FGFR1_ENST00000341462.5_Missense_Mutation_p.H167Y|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000335922.5_Missense_Mutation_p.H158Y|FGFR1_ENST00000326324.6_Missense_Mutation_p.H75Y	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	166	Heparin-binding.|Ig-like C2-type 2.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGCACTGCATGCAATTTCTTT	0.532		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0								ENSG00000077782						103	102	102					8																	38285564		1946	4148	6094	FGFR1	SO:0001583	missense	0			-	HGNC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.496C>T	8.37:g.38285564G>A	ENSP00000400162:p.His166Tyr	Somatic	0	142	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	77	39.37	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H197Y	ENST00000447712.2	37	c.589	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142946	0.57044	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000533668;ENST00000525001;ENST00000526742;ENST00000529552;ENST00000530568	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-0.96;-1.49;-1.49;-1.49;-0.94	5.56	5.56	0.83823	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	L	0.31476	0.935	0.80722	D	1	D;P;P;P;P;D;D;P;P;D;P;P	0.89917	1.0;0.708;0.712;0.712;0.889;0.999;0.999;0.756;0.708;0.977;0.95;0.712	D;P;P;P;P;D;D;P;P;P;B;P	0.91635	0.999;0.48;0.55;0.55;0.531;0.997;0.998;0.678;0.48;0.538;0.409;0.55	D	0.83868	0.0272	10	0.37606	T	0.19	.	19.5308	0.95228	0.0:0.0:1.0:0.0	.	77;77;164;197;75;75;77;166;158;77;75;166	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	Y	164;197;166;167;166;166;164;77;158;75;75;164;167;6;166;75;77;75	ENSP00000380280:H164Y;ENSP00000393312:H197Y;ENSP00000400162:H166Y;ENSP00000340636:H167Y;ENSP00000432972:H166Y;ENSP00000380302:H164Y;ENSP00000348537:H77Y;ENSP00000337247:H158Y;ENSP00000327229:H75Y;ENSP00000380292:H75Y;ENSP00000380297:H164Y;ENSP00000434869:H6Y;ENSP00000434712:H166Y;ENSP00000433569:H75Y;ENSP00000435283:H77Y;ENSP00000434473:H75Y	ENSP00000311337:H166Y	H	-	1	0	FGFR1	38404721	1.000000	0.71417	0.980000	0.43619	0.616000	0.37450	5.636000	0.67848	2.630000	0.89119	0.563000	0.77884	CAT	-	pirsf_FGF_rcpt_fam,smart_Ig_sub,pfscan_Ig-like_dom		0.532	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	protein_coding		G		-		38285564	-1	no_errors	ENST00000425967	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38285564	G	A	38285564	3	1	56	1	0	0	0	0	1	0	0	0	5865	1319	46	2	2268	2	FGFR1	8	38285564	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	36241380	38285564	108078458	30	3140											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110412352	110412352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaataatagccgtccaataCgtttggaagagatactggaa	11	6	0	1	rs374182485		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr8:110412352C>A	ENST00000378402.5	+	13	1164	c.1060C>A	c.(1060-1062)Cgt>Agt	p.R354S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	354	IPT/TIG 3.				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)			CCGTCCAATACGTTTGGAAGA	0.423										HNSCC(38;0.096)																																							0								ENSG00000205038						185	183	183					8																	110412352		1865	4093	5958	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.1060C>A	8.37:g.110412352C>A	ENSP00000367655:p.Arg354Ser	Somatic	0	106	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	42	48.15	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.R354S	ENST00000378402.5	37	c.1060	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	2.228	-0.376769	0.05000	.	.	ENSG00000205038	ENST00000378402	D	0.84589	-1.87	5.3	5.3	0.74995	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.360688	0.25169	N	0.032606	T	0.69269	0.3092	N	0.03608	-0.345	0.24278	N	0.99522	B	0.13594	0.008	B	0.14023	0.01	T	0.50320	-0.8842	10	0.16420	T	0.52	.	16.4525	0.83996	0.0:1.0:0.0:0.0	.	354	Q86WI1	PKHL1_HUMAN	S	354	ENSP00000367655:R354S	ENSP00000367655:R354S	R	+	1	0	PKHD1L1	110481528	0.002000	0.14202	0.411000	0.26484	0.002000	0.02628	1.567000	0.36407	2.457000	0.83068	0.563000	0.77884	CGT	-	superfamily_Ig_E-set,smart_IPT,smart_PA14		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110412352	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	0.888	A	A	110412352	C	A	110412352	3	1	56	1	0	0	0	0	1	0	0	0	11974	536	19	3	1110	3	PKHD1L1	8	110412352	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	72126788	110412352	35951670	31	3141											
GLIS3	169792	genome.wustl.edu	37	chr9	3829452	3829452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaattctctgggaatcgggGtagtgtgggggacagaactt	15	6	1	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr9:3829452G>A	ENST00000324333.10	-	9	2242	c.2049C>T	c.(2047-2049)taC>taT	p.Y683Y	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.Y838Y	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	683					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)		GGGAATCGGGGTAGTGTGGGG	0.532																																																	0								ENSG00000107249						96	80	86					9																	3829452		2203	4300	6503	GLIS3	SO:0001819	synonymous_variant	0			-	HGNC	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.2049C>T	9.37:g.3829452G>A		Somatic	0	21	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	B1AL19|Q1PHK5	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y838	ENST00000324333.10	37	c.2514	CCDS6451.1	9																																																																																			-	NULL		0.532	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	protein_coding	OTTHUMT00000051559.1	G	NM_152629	-		3829452	-1	no_errors	ENST00000381971	ensembl	human	known	74_37	silent	SNP	0.536	A	A	3829452	G	A	3829452	2	1	56	1	0	0	0	0	0	0	0	1	6449	1256	44	2		2	GLIS3	9	3829452	Silent	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		3829452	137383979	32	3142											
IARS	3376	genome.wustl.edu	37	chr9	95013076	95013076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatcagcacctttagaTtctggtacatcaattcagtg	8	9	5	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr9:95013076T>C	ENST00000375643.3	-	23	2614	c.2348A>G	c.(2347-2349)aAt>aGt	p.N783S	IARS_ENST00000443024.2_Missense_Mutation_p.N783S|IARS_ENST00000447699.2_Missense_Mutation_p.N673S|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	783					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACCTTTAGATTCTGGTACAT	0.438																																																	0								ENSG00000196305						141	108	119					9																	95013076		2203	4300	6503	IARS	SO:0001583	missense	0			-	HGNC	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2348A>G	9.37:g.95013076T>C	ENSP00000364794:p.Asn783Ser	Somatic	0	58	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	28	42.86	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.N783S	ENST00000375643.3	37	c.2348	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535383	0.64972	.	.	ENSG00000196305	ENST00000375643;ENST00000451588;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000436450;ENST00000449893	T;T;T	0.13901	2.55;2.55;2.55	5.52	5.52	0.82312	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.041243	0.85682	D	0.000000	T	0.23688	0.0573	M	0.70108	2.13	0.80722	D	1	B;P	0.36837	0.11;0.571	B;B	0.42163	0.196;0.378	T	0.01245	-1.1407	10	0.41790	T	0.15	-28.2057	15.3206	0.74117	0.0:0.0:0.0:1.0	.	783;628	P41252;Q6P0M4	SYIC_HUMAN;.	S	783;15;783;673;783;15;15	ENSP00000364794:N783S;ENSP00000406448:N783S;ENSP00000415020:N673S	ENSP00000364794:N783S	N	-	2	0	IARS	94052897	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.580000	0.82523	2.111000	0.64477	0.533000	0.62120	AAT	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-ligase		0.438	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	protein_coding	OTTHUMT00000053059.2	T	NM_002161	-		95013076	-1	no_errors	ENST00000375643	ensembl	human	known	74_37	missense	SNP	1.000	C	C	95013076	T	C	95013076	3	2	56	1	0	0	0	0	1	0	0	0	7475	1493	52	5	1488	5	IARS	9	95013076	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	91183624	95013076	46200355	33	3143											
SLC2A6	11182	genome.wustl.edu	37	chr9	136340690	136340690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcatgatgagcacaggCgcctccccggccacagccag	12	15	1	2			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr9:136340690C>T	ENST00000371899.4	-	5	683	c.606G>A	c.(604-606)gcG>gcA	p.A202A	SLC2A6_ENST00000371897.4_Silent_p.A202A|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	202					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGAGCACAGGCGCCTCCCCGG	0.711																																																	0								ENSG00000160326						13	15	14					9																	136340690		2189	4290	6479	SLC2A6	SO:0001819	synonymous_variant	0			-	HGNC	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.606G>A	9.37:g.136340690C>T		Somatic	0	31	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.A202	ENST00000371899.4	37	c.606	CCDS6975.1	9																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.711	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	protein_coding	OTTHUMT00000054909.1	C	NM_017585	-		136340690	-1	no_errors	ENST00000371899	ensembl	human	known	74_37	silent	SNP	0.998	T	T	136340690	C	T	136340690	2	4	56	1	0	0	0	0	0	0	0	1	14557	755	27	1		1	SLC2A6	9	136340690	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	41327614	136340690	4872741	34	3144											
ADAMTSL2	9719	genome.wustl.edu	37	chr9	136402660	136402660	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcccaggagcggcactgccTgcagcagaggtgcgaggttg	16	11	0	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr9:136402660T>A	ENST00000354484.4	+	3	781	c.224T>A	c.(223-225)cTg>cAg	p.L75Q	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.L184Q|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L75Q	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	75	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CGGCACTGCCTGCAGCAGAGG	0.692																																																	0								ENSG00000197859						30	35	34					9																	136402660		2203	4298	6501	ADAMTSL2	SO:0001583	missense	0			-	HGNC	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.224T>A	9.37:g.136402660T>A	ENSP00000346478:p.Leu75Gln	Somatic	0	149	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	114	10.24	B1B0D5|O60345	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L184Q	ENST00000354484.4	37	c.551	CCDS6976.1	9	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328583	0.81690	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.51817	0.69;0.69;0.69	4.84	4.84	0.62591	.	0.000000	0.53938	U	0.000056	T	0.63943	0.2554	L	0.58669	1.825	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.63690	-0.6580	10	0.40728	T	0.16	.	14.4	0.67037	0.0:0.0:0.0:1.0	.	75	Q86TH1	ATL2_HUMAN	Q	75;184;75	ENSP00000346478:L75Q;ENSP00000376781:L184Q;ENSP00000376780:L75Q	ENSP00000346478:L75Q	L	+	2	0	ADAMTSL2	135392481	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	7.640000	0.83355	1.808000	0.52836	0.402000	0.26972	CTG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.692	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL2	protein_coding	OTTHUMT00000254619.1	T	NM_014694	-		136402660	1	no_errors	ENST00000393061	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136402660	T	A	136402660	3	1	56	1	0	0	0	0	1	0	0	0	275	1580	55	5	230	5	ADAMTSL2	9	136402660	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	61970	136402660	4810771	35	3145											
NPDC1	56654	genome.wustl.edu	37	chr9	139935042	139935042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagtcaggcggatctcaCgctgcagcctgtggggagtg	16	10	3	1	rs557720412		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr9:139935042C>T	ENST00000371601.4	-	6	845	c.632G>A	c.(631-633)cGt>cAt	p.R211H	RP11-229P13.20_ENST00000457302.2_lincRNA|NPDC1_ENST00000488145.1_5'Flank|NPDC1_ENST00000371600.3_Missense_Mutation_p.R289H	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	211						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCGGATCTCACGCTGCAGCCT	0.692													c|||	1	0.000199681	0	0	5008	,	,		9781	0		0	False		,,,				2504	0.001																0								ENSG00000107281						23	28	26					9																	139935042		2176	4284	6460	NPDC1	SO:0001583	missense	0			-	HGNC	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.632G>A	9.37:g.139935042C>T	ENSP00000360660:p.Arg211His	Somatic	0	31	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	21	48.78	Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Missense_Mutation	SNP							pfam_NPDC1	p.R289H	ENST00000371601.4	37	c.866	CCDS7024.1	9	.	.	.	.	.	.	.	.	.	.	c	16.48	3.134971	0.56828	.	.	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	3.23	2.18	0.27775	.	0.248486	0.23340	U	0.049250	T	0.49133	0.1539	L	0.52573	1.65	0.26498	N	0.974824	D;D;D;D	0.76494	0.993;0.993;0.999;0.993	P;P;D;P	0.64042	0.772;0.772;0.921;0.772	T	0.24693	-1.0153	9	0.72032	D	0.01	-19.7394	6.1716	0.20421	0.0:0.7668:0.0:0.2332	.	211;211;289;211	Q8WXX4;Q9NQX5;Q5SPY9;Q8NCE1	.;NPDC1_HUMAN;.;.	H	289;211	.	ENSP00000360659:R289H	R	-	2	0	NPDC1	139054863	0.000000	0.05858	0.993000	0.49108	0.628000	0.37860	0.076000	0.14712	1.628000	0.50416	0.472000	0.43445	CGT	-	pfam_NPDC1		0.692	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPDC1	protein_coding	OTTHUMT00000055182.1	C	NM_015392	-		139935042	-1	no_errors	ENST00000371600	ensembl	human	known	74_37	missense	SNP	0.808	T	T	139935042	C	T	139935042	3	4	56	1	0	0	0	0	1	0	0	0	10575	536	19	1	361	1	NPDC1	9	139935042	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	3532382	139935042	1278389	36	3146											
PFKP	5214	genome.wustl.edu	37	chr10	3146134	3146134	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccatcatgaccacggcccaGaggtaaagcgctcagaggaa	12	12	2	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr10:3146134G>C	ENST00000381125.4	+	5	694	c.618G>C	c.(616-618)caG>caC	p.Q206H	PFKP_ENST00000381075.2_Missense_Mutation_p.Q198H	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	206	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCACGGCCCAGAGGTAAAGCG	0.617																																																	0								ENSG00000067057						47	39	42					10																	3146134		2202	4300	6502	PFKP	SO:0001583	missense	0			-	HGNC	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.618G>C	10.37:g.3146134G>C	ENSP00000370517:p.Gln206His	Somatic	0	29	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP							pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.Q206H	ENST00000381125.4	37	c.618	CCDS7059.1	10	.	.	.	.	.	.	.	.	.	.	G	6.918	0.538994	0.13250	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000407806	T;T;T	0.77877	-1.13;-1.13;-1.13	4.64	4.64	0.57946	Phosphofructokinase domain (2);	0.052190	0.85682	D	0.000000	T	0.75391	0.3843	L	0.28776	0.89	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.59056	0.851;0.795	T	0.69837	-0.5037	10	0.15499	T	0.54	.	11.1955	0.48711	0.1352:0.0:0.8648:0.0	.	198;206	Q5VSR7;Q01813	.;K6PP_HUMAN	H	206;195;198;168	ENSP00000370517:Q206H;ENSP00000370465:Q198H;ENSP00000385880:Q168H	ENSP00000370465:Q198H	Q	+	3	2	PFKP	3136134	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	2.887000	0.48586	2.293000	0.77203	0.650000	0.86243	CAG	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.617	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	protein_coding	OTTHUMT00000046454.1	G	NM_002627	-		3146134	1	no_errors	ENST00000381125	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3146134	G	C	3146134	3	2	56	1	0	0	0	0	1	0	0	0	11768	933	33	4	636	4	PFKP	10	3146134	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		3146134	132388613	37	3147											
PKP3	11187	genome.wustl.edu	37	chr11	400077	400077	+	Frame_Shift_Del	DEL	C	C	-													ccctgtcgggggctgggggtCcccccctcatccagcagaac					rs371435693		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr11:400077delC	ENST00000331563.2	+	6	1460	c.1384delC	c.(1384-1386)cccfs	p.P463fs		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	463					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGGGGGTCCCCCCCTCAT	0.662																																																	0								ENSG00000184363						17	20	19					11																	400077		2165	4272	6437	PKP3	SO:0001589	frameshift_variant	0				HGNC	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1384delC	11.37:g.400077delC	ENSP00000331678:p.Pro463fs	Somatic	0	46	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	F8J390|Q53EX8	Frame_Shift_Del	DEL							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L464fs	ENST00000331563.2	37	c.1384	CCDS7695.1	11																																																																																			-	superfamily_ARM-type_fold,smart_Armadillo		0.662	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	protein_coding	OTTHUMT00000239281.1	C	NM_007183			400077	1	no_errors	ENST00000331563	ensembl	human	known	74_37	frame_shift_del	DEL	0.053	-	-	400077	C	-	400077	7	5	56	1	0	1	0	1	0	0	0	0	11988	855	30	0	1406	0	PKP3	11	400077	Frame_Shift_Del	DEL	C	TCGA-DX-A3UF-01A-11D-A307-09		400077	134606439	38	3148											
SAPS3	55291	genome.wustl.edu	37	chr11	68359132	68359132	+	Frame_Shift_Del	DEL	A	A	-													tgaggaagatatatgggaggAaaagcacatcgcattcacac							TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr11:68359132delA	ENST00000393800.2	+	18	2128	c.1874delA	c.(1873-1875)gaafs	p.E625fs	PPP6R3_ENST00000265637.4_Frame_Shift_Del_p.E579fs|PPP6R3_ENST00000534534.1_Frame_Shift_Del_p.E393fs|PPP6R3_ENST00000265636.5_Frame_Shift_Del_p.E545fs|PPP6R3_ENST00000393799.2_Frame_Shift_Del_p.E625fs|PPP6R3_ENST00000524904.1_Frame_Shift_Del_p.E619fs|PPP6R3_ENST00000393801.3_Frame_Shift_Del_p.E625fs|PPP6R3_ENST00000527403.2_Frame_Shift_Del_p.E590fs|PPP6R3_ENST00000524845.1_Frame_Shift_Del_p.E596fs|PPP6R3_ENST00000529710.1_Frame_Shift_Del_p.E545fs	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	625					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATATGGGAGGAAAAGCACATC	0.363																																																	0								ENSG00000110075						129	109	116					11																	68359132		2200	4294	6494	PPP6R3	SO:0001589	frameshift_variant	0				HGNC	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1874delA	11.37:g.68359132delA	ENSP00000377389:p.Glu625fs	Somatic	0	65	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Frame_Shift_Del	DEL							pfam_SAPS,superfamily_ARM-type_fold	p.K626fs	ENST00000393800.2	37	c.1874	CCDS53672.1	11																																																																																			-	NULL		0.363	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	protein_coding	OTTHUMT00000395275.1	A	NM_018312			68359132	1	no_errors	ENST00000393799	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	68359132	A	-	68359132	7	5	56	1	0	1	0	1	0	0	0	0	13846	246	9	0	1936	0	SAPS3	11	68359132	Frame_Shift_Del	DEL	A	TCGA-DX-A3UF-01A-11D-A307-09	67959055	68359132	66647384	39	3149											
NPAT	4863	genome.wustl.edu	37	chr11	108062877	108062877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgtatggtccaatttcttCcatagagatgacattattgc	8	7	1	2			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr11:108062877C>A	ENST00000278612.8	-	4	363	c.258G>T	c.(256-258)tgG>tgT	p.W86C	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	86	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CCAATTTCTTCCATAGAGATG	0.323																																																	0								ENSG00000149308						214	188	196					11																	108062877		1830	4080	5910	NPAT	SO:0001583	missense	0			-	HGNC	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.258G>T	11.37:g.108062877C>A	ENSP00000278612:p.Trp86Cys	Somatic	0	67	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP							smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.W86C	ENST00000278612.8	37	c.258	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042367	0.75732	.	.	ENSG00000149308	ENST00000278612	T	0.38722	1.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68625	-0.5359	10	0.87932	D	0	-5.4339	19.6375	0.95740	0.0:1.0:0.0:0.0	.	86	Q14207	NPAT_HUMAN	C	86	ENSP00000278612:W86C	ENSP00000278612:W86C	W	-	3	0	NPAT	107568087	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.504000	0.73704	2.640000	0.89533	0.655000	0.94253	TGG	-	NULL		0.323	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	protein_coding	OTTHUMT00000389506.2	C	NM_002519	-		108062877	-1	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108062877	C	A	108062877	3	1	56	1	0	0	0	0	1	0	0	0	10568	856	30	3	4085	3	NPAT	11	108062877	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	39703745	108062877	26943639	40	3150											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128843174	128843174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagcctgagaggtccctGgtctcttcaatgactgagtt	10	12	2	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr11:128843174G>A	ENST00000310343.9	-	21	3184	c.3185C>T	c.(3184-3186)cCa>cTa	p.P1062L	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P713L|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P713L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1062					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAGGTCCCTGGTCTCTTCAA	0.493																																																	0								ENSG00000134909						147	161	156					11																	128843174		2201	4297	6498	ARHGAP32	SO:0001583	missense	0			-	HGNC	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3185C>T	11.37:g.128843174G>A	ENSP00000310561:p.Pro1062Leu	Somatic	0	72	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P1062L	ENST00000310343.9	37	c.3185	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684020	0.68157	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.16324	2.35;3.0;3.0	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.71581	2.175	0.54753	D	0.999989	D	0.76494	0.999	D	0.64144	0.922	T	0.18429	-1.0337	10	0.66056	D	0.02	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	1062	A7KAX9	RHG32_HUMAN	L	1062;713;713	ENSP00000310561:P1062L;ENSP00000376425:P713L;ENSP00000432862:P713L	ENSP00000310561:P1062L	P	-	2	0	ARHGAP32	128348384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.428000	0.90278	2.733000	0.93635	0.655000	0.94253	CCA	-	NULL		0.493	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	protein_coding	OTTHUMT00000386151.3	G	NM_014715	-		128843174	-1	no_errors	ENST00000310343	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128843174	G	A	128843174	3	1	56	1	0	0	0	0	1	0	0	0	881	1348	47	2	3086	2	ARHGAP32	11	128843174	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	20780297	128843174	6163342	41	3151											
SYT1	6857	genome.wustl.edu	37	chr12	79689987	79689987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccaccgaaaaacccttaatCctgtcttcaatgagcaattt	4	12	2	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr12:79689987C>G	ENST00000261205.4	+	7	1270	c.613C>G	c.(613-615)Cct>Gct	p.P205A	SYT1_ENST00000457153.2_Missense_Mutation_p.P202A|SYT1_ENST00000393240.3_Missense_Mutation_p.P205A|SYT1_ENST00000552744.1_Missense_Mutation_p.P205A	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	205	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				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						AACCCTTAATCCTGTCTTCAA	0.363																																																	0								ENSG00000067715						96	101	99					12																	79689987		2203	4300	6503	SYT1	SO:0001583	missense	0			-	HGNC		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.613C>G	12.37:g.79689987C>G	ENSP00000261205:p.Pro205Ala	Somatic	0	69	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	Q6AI31	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.P205A	ENST00000261205.4	37	c.613	CCDS9017.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.659245|4.659245	0.88154|0.88154	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000549559|ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	.|D;D;D;D	.|0.91124	.|-2.79;-2.79;-2.79;-2.79	5.52|5.52	5.52|5.52	0.82312|0.82312	.|C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97275|0.97275	0.9109|0.9109	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.98106|0.98106	1.0417|1.0417	5|10	.|0.87932	.|D	.|0	.|.	19.8046|19.8046	0.96525|0.96525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|205;205	.|Q6AI31;P21579	.|.;SYT1_HUMAN	M|A	106|205;205;202;205	.|ENSP00000376932:P205A;ENSP00000261205:P205A;ENSP00000391056:P202A;ENSP00000447575:P205A	.|ENSP00000261205:P205A	I|P	+|+	3|1	3|0	SYT1|SYT1	78214118|78214118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.754000|2.754000	0.94517|0.94517	0.650000|0.650000	0.86243|0.86243	ATC|CCT	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	protein_coding	OTTHUMT00000259415.1	C	NM_005639	-		79689987	1	no_errors	ENST00000261205	ensembl	human	known	74_37	missense	SNP	1.000	G	G	79689987	C	G	79689987	3	3	56	1	0	0	0	0	1	0	0	0	15472	855	30	4	627	4	SYT1	12	79689987	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09		79689987	54161908	42	3152											
KSR2	283455	genome.wustl.edu	37	chr12	118199225	118199225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctctgggagagatgggTgcggatccacggggtgggct	22	7	1	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr12:118199225T>C	ENST00000339824.5	-	4	1304	c.577A>G	c.(577-579)Acc>Gcc	p.T193A	KSR2_ENST00000425217.1_Missense_Mutation_p.T164A			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	193	Pro-rich.				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)			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)					GAGAGATGGGTGCGGATCCAC	0.642																																																	0								ENSG00000171435						38	42	41					12																	118199225		1924	4120	6044	KSR2	SO:0001583	missense	0			-	HGNC	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.577A>G	12.37:g.118199225T>C	ENSP00000339952:p.Thr193Ala	Somatic	0	174	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	110	10.48	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.T193A	ENST00000339824.5	37	c.577		12	.	.	.	.	.	.	.	.	.	.	T	7.546	0.661613	0.14645	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.78126	-1.15;-1.15	4.63	4.63	0.57726	.	0.482857	0.23640	N	0.046035	T	0.60222	0.2252	N	0.13098	0.295	0.31983	N	0.605615	B	0.18741	0.03	B	0.14578	0.011	T	0.57682	-0.7769	10	0.11794	T	0.64	.	13.8596	0.63552	0.0:0.0:0.0:1.0	.	193	Q6VAB6	KSR2_HUMAN	A	164;193	ENSP00000389715:T164A;ENSP00000339952:T193A	ENSP00000339952:T193A	T	-	1	0	KSR2	116683608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.913000	0.39956	1.932000	0.55993	0.402000	0.26972	ACC	-	NULL		0.642	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	T	NM_173598	-		118199225	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	SNP	1.000	C	C	118199225	T	C	118199225	3	2	56	1	0	0	0	0	1	0	0	0	8584	1696	59	5	2343	5	KSR2	12	118199225	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	38509238	118199225	15652670	43	3153											
KNTC1	9735	genome.wustl.edu	37	chr12	123042022	123042022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaatggcaacaacttgTagacgacgctaaggaaaatc	10	9	0	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr12:123042022T>C	ENST00000333479.7	+	17	1541	c.1364T>C	c.(1363-1365)gTa>gCa	p.V455A	KNTC1_ENST00000450485.2_Missense_Mutation_p.V418A	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	455					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAACAACTTGTAGACGACGCT	0.378																																																	0								ENSG00000184445						127	116	120					12																	123042022		1886	4121	6007	KNTC1	SO:0001583	missense	0			-	HGNC		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1364T>C	12.37:g.123042022T>C	ENSP00000328236:p.Val455Ala	Somatic	0	95	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.39	A7E2C4|B3KSG2	Missense_Mutation	SNP							pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.V455A	ENST00000333479.7	37	c.1364	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	T	12.08	1.831590	0.32329	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.27256	1.68;2.2	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000005	T	0.27454	0.0674	M	0.67953	2.075	0.80722	D	1	P;P	0.42871	0.792;0.7	B;B	0.35182	0.197;0.193	T	0.11966	-1.0566	10	0.72032	D	0.01	-17.4381	13.3475	0.60582	0.0:0.0:0.1311:0.8689	.	418;455	E7ES84;P50748	.;KNTC1_HUMAN	A	418;455	ENSP00000397992:V418A;ENSP00000328236:V455A	ENSP00000328236:V455A	V	+	2	0	KNTC1	121607975	1.000000	0.71417	0.042000	0.18584	0.087000	0.18053	5.450000	0.66626	2.317000	0.78254	0.460000	0.39030	GTA	-	NULL		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	protein_coding	OTTHUMT00000396110.2	T		-		123042022	1	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	SNP	0.997	C	C	123042022	T	C	123042022	3	2	56	1	0	0	0	0	1	0	0	0	8430	1638	57	5	1426	5	KNTC1	12	123042022	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09	4842797	123042022	10809873	44	3154											
SOX1	6656	genome.wustl.edu	37	chr13	112722436	112722441	+	In_Frame_Del	DEL	TGGGCG	TGGGCG	-													cggcggcgcggctgtggccaTgggcgtgggcgtgggcgtgg					rs554658976	byFrequency	TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	TGGGCG	TGGGCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr13:112722436_112722441delTGGGCG	ENST00000330949.1	+	1	524_529	c.464_469delTGGGCG	c.(463-471)atgggcgtg>atg	p.GV160del		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	160					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		gcTGTGGCCATGGGCGTGGGCGTGGG	0.786														537	0.107228	0.1195	0.0692	5008	,	,		2991	0.0794		0.0895	False		,,,				2504	0.1646																0								ENSG00000182968			29,551		13,3,274						-1	1			2	50,1202		20,10,596	no	coding	SOX1	NM_005986.2		33,13,870	A1A1,A1R,RR		3.9936,5.0,4.3122				79,1753				SOX1	SO:0001651	inframe_deletion	0				HGNC		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.464_469delTGGGCG	13.37:g.112722442_112722447delTGGGCG	ENSP00000330218:p.Gly160_Val161del	Somatic					0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5W0Q1	In_Frame_Del	DEL							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.VG159in_frame_del	ENST00000330949.1	37	c.464_469	CCDS9523.1	13																																																																																			-	pfam_TF_SOX		0.786	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	protein_coding	OTTHUMT00000045817.3	TGGGCG	NM_005986			112722441	1	no_errors	ENST00000330949	ensembl	human	known	74_37	in_frame_del	DEL	0.985:0.996:1.000:1.000:0.975:0.961	-	-	112722441	TGGGCG	-	112722436	7	5	56	1	0	1	0	1	0	0	0	0	14948	1464	51	0	466	0	SOX1	13	112722436	In_Frame_Del	DEL	TGGGCG	TCGA-DX-A3UF-01A-11D-A307-09		112722436	2447442	45	3155											
TECPR2	9895	genome.wustl.edu	37	chr14	102898417	102898417	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggactttgaccaggagcttGtcgtgaagcctatcaaagtg	12	8	1	2			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr14:102898417G>C	ENST00000359520.7	+	8	1595	c.1369G>C	c.(1369-1371)Gtc>Ctc	p.V457L	TECPR2_ENST00000558678.1_Missense_Mutation_p.V457L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	457					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCAGGAGCTTGTCGTGAAGCC	0.552																																																	0								ENSG00000196663						16	16	16					14																	102898417		2000	3937	5937	TECPR2	SO:0001583	missense	0			-	HGNC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1369G>C	14.37:g.102898417G>C	ENSP00000352510:p.Val457Leu	Somatic	0	48	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP							pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.V457L	ENST00000359520.7	37	c.1369	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234123	0.39498	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.21191	2.02	5.39	1.73	0.24493	.	0.346810	0.29328	N	0.012473	T	0.18383	0.0441	L	0.53249	1.67	0.09310	N	1	B;B	0.21905	0.062;0.062	B;B	0.21917	0.037;0.037	T	0.17561	-1.0365	10	0.52906	T	0.07	.	7.0423	0.25027	0.5334:0.0:0.4666:0.0	.	457;457	A5PKY3;O15040	.;TCPR2_HUMAN	L	457	ENSP00000352510:V457L	ENSP00000352510:V457L	V	+	1	0	TECPR2	101968170	0.511000	0.26179	0.010000	0.14722	0.982000	0.71751	0.749000	0.26320	0.632000	0.30432	0.650000	0.86243	GTC	-	NULL		0.552	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	protein_coding	OTTHUMT00000415056.2	G	NM_014844	-		102898417	1	no_errors	ENST00000359520	ensembl	human	known	74_37	missense	SNP	0.040	C	C	102898417	G	C	102898417	3	2	56	1	0	0	0	0	1	0	0	0	15751	1377	48	4	1395	4	TECPR2	14	102898417	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		102898417	4451123	46	3156											
C14orf180	400258	genome.wustl.edu	37	chr14	105055119	105055127	+	Stop_Codon_Del	DEL	GACGGGCAG	GACGGGCAG	-													gcgcggcctcctgcggctctGacgggcaggacgggcaggac					rs111285011|rs569942489|rs11278058	byFrequency	TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	GACGGGCAG	GACGGGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr14:105055119_105055127delGACGGGCAG	ENST00000557649.1	+	0	818_826				C14orf180_ENST00000410013.1_Stop_Codon_Del|C14orf180_ENST00000331952.2_In_Frame_Del_p.TGR153del|RP11-614O9.1_ENST00000556073.1_RNA			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		CTGCGGCTCTgacgggcaggacgggcagg	0.718														3012	0.601438	0.8079	0.6095	5008	,	,		14598	0.6954		0.4235	False		,,,				2504	0.4029																0								ENSG00000184601			1070,740		494,82,329						3	0.1		dbSNP_132	3	1279,3127		502,275,1426	no	coding	C14orf180	NM_001008404.1		996,357,1755	A1A1,A1R,RR		29.0286,40.884,37.7896				2349,3867				C14orf180	SO:0001567	stop_retained_variant	0				HGNC		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"nutritionally-regulated adipose and cardiac-enriched"		"chromosome 14 open reading frame 77"	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	Exception_encountered	14.37:g.105055128_105055136delGACGGGCAG		Somatic					0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							NULL	p.*161fs	ENST00000557649.1	37	c.482_483	CCDS32166.1	14																																																																																			-	NULL		0.718	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf180	protein_coding	OTTHUMT00000410580.1	GACGGGCAG	NM_001008404			105055127	1	no_errors	ENST00000410013	ensembl	human	known	74_37	frame_shift_del	DEL	0.046:0.035	-	-	105055127	GACGGGCAG	-	105055119	7	5	56	1	0	1	0	1	0	0	0	0	1765	1285	45	0	496	0	C14orf180	14	105055119	Stop_Codon_Del	DEL	GACGGGCAG	TCGA-DX-A3UF-01A-11D-A307-09	2156702	105055119	2294421	47	3157											
PACS2	23241	genome.wustl.edu	37	chr14	105848840	105848840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagactgtgtatgaccaGctcaaccacatcctcatctc	7	13	3	2			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr14:105848840G>T	ENST00000325438.8	+	14	1932	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	PACS2_ENST00000447393.1_Missense_Mutation_p.Q480H|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.Q480H|PACS2_ENST00000547217.1_Missense_Mutation_p.Q446H|PACS2_ENST00000430725.2_Missense_Mutation_p.Q401H			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	476					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGTATGACCAGCTCAACCACA	0.597																																																	0								ENSG00000179364						268	219	236					14																	105848840		2203	4300	6503	PACS2	SO:0001583	missense	0			-	HGNC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1428G>T	14.37:g.105848840G>T	ENSP00000321834:p.Gln476His	Somatic	0	106	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	56	42.27	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP							pfam_Phosphofurin_acidic_CS-1	p.Q480H	ENST00000325438.8	37	c.1440	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076423	0.55753	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	4.57	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.85373	2.75	0.58432	D	0.999998	D;D;P;D	0.67145	0.995;0.974;0.83;0.996	D;P;P;D	0.66602	0.945;0.883;0.677;0.914	T	0.73418	-0.3989	10	0.87932	D	0	-32.8159	8.6591	0.34081	0.3592:0.0:0.6408:0.0	.	480;480;476;477	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	H	401;476;480;480;446	ENSP00000393524:Q401H;ENSP00000321834:Q476H;ENSP00000399732:Q480H;ENSP00000393559:Q480H;ENSP00000449525:Q446H	ENSP00000321834:Q476H	Q	+	3	2	PACS2	104919885	1.000000	0.71417	0.973000	0.42090	0.938000	0.57974	1.642000	0.37207	0.437000	0.26423	0.563000	0.77884	CAG	-	pfam_Phosphofurin_acidic_CS-1		0.597	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	protein_coding	OTTHUMT00000409209.1	G	XM_377355	-		105848840	1	no_errors	ENST00000458164	ensembl	human	known	74_37	missense	SNP	0.994	T	T	105848840	G	T	105848840	3	4	56	1	0	0	0	0	1	0	0	0	11375	962	34	3	1494	3	PACS2	14	105848840	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	793721	105848840	1500700	48	3158											
C15orf2	23742	genome.wustl.edu	37	chr15	24922764	24922764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatggatactactgccccaTctcaggttgttattttcaca	6	10	2	0	rs374388831		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr15:24922764T>C	ENST00000329468.2	+	1	2224	c.1750T>C	c.(1750-1752)Tct>Cct	p.S584P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	584					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TACTGCCCCATCTCAGGTTGT	0.488																																																	0								ENSG00000185823						102	98	99					15																	24922764		2203	4300	6503	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1750T>C	15.37:g.24922764T>C	ENSP00000333735:p.Ser584Pro	Somatic	0	36	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00		Missense_Mutation	SNP							NULL	p.S584P	ENST00000329468.2	37	c.1750	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	12.17	1.858223	0.32791	.	.	ENSG00000185823	ENST00000329468	T	0.10668	2.85	1.68	-0.696	0.11287	.	0.387908	0.19188	N	0.120482	T	0.07548	0.0190	L	0.46157	1.445	0.09310	N	1	B	0.24768	0.111	B	0.15052	0.012	T	0.25293	-1.0136	10	0.37606	T	0.19	.	4.1393	0.10186	0.0:0.444:0.0:0.556	.	584	Q9NZP6	CO002_HUMAN	P	584	ENSP00000333735:S584P	ENSP00000333735:S584P	S	+	1	0	C15orf2	22473857	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.017000	0.12590	-0.212000	0.10109	0.172000	0.16884	TCT	-	NULL		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	T	NM_018958	-		24922764	1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	C	C	24922764	T	C	24922764	3	2	56	1	0	0	0	0	1	0	0	0	1786	1435	50	5	1752	5	C15orf2	15	24922764	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09		24922764	77608628	49	3159											
FBN1	2200	genome.wustl.edu	37	chr15	48780437	48780437	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgcggcattcgtcaatGtctgcacaaaaacagcaagt	9	9	2	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr15:48780437G>A	ENST00000316623.5	-	27	3665	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1070	EGF-like 16; 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)		ATTCGTCAATGTCTGCACAAA	0.468																																																	0								ENSG00000166147						61	55	57					15																	48780437		2198	4296	6494	FBN1	SO:0001630	splice_region_variant	0			-	HGNC	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.3209-1C>T	15.37:g.48780437G>A		Somatic	0	68	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	32	42.86	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.D1070	ENST00000316623.5	37	c.3210	CCDS32232.1	15																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom		0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	G		-	Silent	48780437	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48780437	G	A	48780437	5	1	56	1	0	0	0	0	0	0	1	0	5704	1391	48	2	5565	2	FBN1	15	48780437	Splice_Site	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	23857673	48780437	53750955	50	3160											
C16orf91	283951	genome.wustl.edu	37	chr16	1479302	1479302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccactcccagcagccttTcctgggacctgcaggtgacc	9	18	0	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr16:1479302T>C	ENST00000310355.1	-	1	43	c.44A>G	c.(43-45)gAa>gGa	p.E15G				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CAGCAGCCTTTCCTGGGACCT	0.607																																																	0								ENSG00000174109						110	117	115					16																	1479302		2199	4300	6499	C16orf91	SO:0001583	missense	0			-	HGNC	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.44A>G	16.37:g.1479302T>C	ENSP00000311390:p.Glu15Gly	Somatic	0	270	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	93	16.96	Q96RZ0	Missense_Mutation	SNP							prints_CCSMST1	p.E15G	ENST00000310355.1	37	c.44	CCDS32360.1	16	.	.	.	.	.	.	.	.	.	.	t	7.082	0.570470	0.13560	.	.	ENSG00000174109	ENST00000310355	.	.	.	0.588	-1.18	0.09617	.	.	.	.	.	T	0.36771	0.0979	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39292	-0.9621	4	0.87932	D	0	.	.	.	.	.	.	.	.	G	15	.	ENSP00000311390:E15G	E	-	2	0	C16orf91	1419303	0.000000	0.05858	0.011000	0.14972	0.126000	0.20510	-1.352000	0.02619	-0.520000	0.06435	0.255000	0.18592	GAA	-	NULL		0.607	C16orf91-201	KNOWN	basic|CCDS	protein_coding	C16orf91	protein_coding		T	NM_001010878	-		1479302	-1	no_errors	ENST00000310355	ensembl	human	known	74_37	missense	SNP	0.230	C	C	1479302	T	C	1479302	3	2	56	1	0	0	0	0	1	0	0	0	1846	1783	62	5	1044	5	C16orf91	16	1479302	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09		1479302	88875451	51	3161											
WDR81	124997	genome.wustl.edu	37	chr17	1630298	1630298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgaccagctgggctcctCcagtcaagcgtcccctggac	12	15	1	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr17:1630298C>T	ENST00000409644.1	+	1	2045	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	682					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCTCCTCCAGTCAAGCG	0.607																																																	0								ENSG00000167716						12	14	14					17																	1630298		691	1588	2279	WDR81	SO:0001583	missense	0			-	HGNC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.2045C>T	17.37:g.1630298C>T	ENSP00000386609:p.Ser682Phe	Somatic	0	59	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	37	51.95	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S682F	ENST00000409644.1	37	c.2045	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	2.791	-0.251404	0.05867	.	.	ENSG00000167716	ENST00000409644	T	0.56444	0.46	5.5	4.5	0.54988	.	.	.	.	.	T	0.52158	0.1717	.	.	.	0.29534	N	0.85255	.	.	.	.	.	.	T	0.50180	-0.8858	6	0.37606	T	0.19	.	11.6034	0.51017	0.0:0.8056:0.1247:0.0697	.	.	.	.	F	682	ENSP00000386609:S682F	ENSP00000386609:S682F	S	+	2	0	WDR81	1577048	0.044000	0.20184	0.251000	0.24312	0.026000	0.11368	0.643000	0.24750	2.580000	0.87095	0.561000	0.74099	TCC	-	NULL		0.607	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	C	NM_152348	-		1630298	1	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	SNP	0.134	T	T	1630298	C	T	1630298	3	4	56	1	0	0	0	0	1	0	0	0	17337	855	30	2	2109	2	WDR81	17	1630298	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09		1630298	79564912	52	3162											
TP53	7157	genome.wustl.edu	37	chr17	7578191	7578191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctcaggcggctcatAgggcaccaccacactatgtc	9	16	2	1	rs530941076		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr17:7578191A>C	ENST00000269305.4	-	6	847	c.658T>G	c.(658-660)Tat>Gat	p.Y220D	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220D|TP53_ENST00000420246.2_Missense_Mutation_p.Y220D|TP53_ENST00000445888.2_Missense_Mutation_p.Y220D|TP53_ENST00000359597.4_Missense_Mutation_p.Y220D|TP53_ENST00000455263.2_Missense_Mutation_p.Y220D	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	GGCGGCTCATAGGGCACCACC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(22)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	breast(10)|biliary_tract(6)|endometrium(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|skin(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|ovary(1)						ENSG00000141510						105	96	99					17																	7578191		2203	4300	6503	TP53	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;	-	HGNC	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.658T>G	17.37:g.7578191A>C	ENSP00000269305:p.Tyr220Asp	Somatic	0	69	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	13	77.97	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220D	ENST00000269305.4	37	c.658	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367056	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.992;1.0;0.998;0.995;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	1.0:0.0:0.0:0.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220D;ENSP00000352610:Y220D;ENSP00000269305:Y220D;ENSP00000398846:Y220D;ENSP00000391127:Y220D;ENSP00000391478:Y220D;ENSP00000425104:Y88D;ENSP00000423862:Y127D	ENSP00000269305:Y220D	Y	-	1	0	TP53	7518916	1.000000	0.71417	0.614000	0.29051	0.991000	0.79684	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	TAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578191	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.998	C	C	7578191	A	C	7578191	3	2	56	1	0	0	0	0	1	0	0	0	16388	420	15	5	636	5	TP53	17	7578191	Missense_Mutation	SNP	A	TCGA-DX-A3UF-01A-11D-A307-09	5947893	7578191	73617019	53	3163											
TMEM101	84336	genome.wustl.edu	37	chr17	42090466	42090466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtacagctccccagcacCgctggccaacacaagaaagc	10	16	0	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr17:42090466C>T	ENST00000589334.1	-	4	691	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	TMEM101_ENST00000542039.1_Missense_Mutation_p.G68S|TMEM101_ENST00000587529.1_Missense_Mutation_p.G126S|TMEM101_ENST00000206380.3_Missense_Mutation_p.G126S			Q96IK0	TM101_HUMAN	transmembrane protein 101	126					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCCCAGCACCGCTGGCCAAC	0.627																																																	0								ENSG00000091947						43	34	37					17																	42090466		2203	4300	6503	TMEM101	SO:0001583	missense	0			-	HGNC	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.376G>A	17.37:g.42090466C>T	ENSP00000468025:p.Gly126Ser	Somatic	0	68	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2R9N6	Missense_Mutation	SNP							NULL	p.G126S	ENST00000589334.1	37	c.376	CCDS11474.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.622061	0.96660	.	.	ENSG00000091947	ENST00000206380;ENST00000542039	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68765	-0.5322	9	0.59425	D	0.04	-12.0463	15.7032	0.77558	0.0:1.0:0.0:0.0	.	126	Q96IK0	TM101_HUMAN	S	126;68	.	ENSP00000206380:G126S	G	-	1	0	TMEM101	39445992	1.000000	0.71417	0.979000	0.43373	0.982000	0.71751	7.452000	0.80683	2.568000	0.86640	0.485000	0.47835	GGT	-	NULL		0.627	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	protein_coding	OTTHUMT00000457665.1	C	NM_032376	-		42090466	-1	no_errors	ENST00000206380	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42090466	C	T	42090466	3	4	56	1	0	0	0	0	1	0	0	0	16023	652	23	1	405	1	TMEM101	17	42090466	Missense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	34512275	42090466	39104744	54	3164											
DSG1	1828	genome.wustl.edu	37	chr18	28913606	28913606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaccgagatggcggggcaGatggcatgtcagcggaatgt	17	8	1	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr18:28913606G>T	ENST00000257192.4	+	7	951	c.739G>T	c.(739-741)Gat>Tat	p.D247Y		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	247	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|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)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGCGGGGCAGATGGCATGTC	0.433																																																	0								ENSG00000134760						147	132	137					18																	28913606		2203	4300	6503	DSG1	SO:0001583	missense	0			-	HGNC	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.739G>T	18.37:g.28913606G>T	ENSP00000257192:p.Asp247Tyr	Somatic	0	56	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B7Z845	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.D247Y	ENST00000257192.4	37	c.739	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227202	0.79576	.	.	ENSG00000134760	ENST00000257192	T	0.51817	0.69	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.70072	0.3182	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.69826	-0.5040	10	0.56958	D	0.05	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	247	Q02413	DSG1_HUMAN	Y	247	ENSP00000257192:D247Y	ENSP00000257192:D247Y	D	+	1	0	DSG1	27167604	1.000000	0.71417	0.962000	0.40283	0.682000	0.39822	5.315000	0.65810	2.739000	0.93911	0.655000	0.94253	GAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	protein_coding	OTTHUMT00000254947.1	G	NM_001942	-		28913606	1	no_errors	ENST00000257192	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28913606	G	T	28913606	3	4	56	1	0	0	0	0	1	0	0	0	4778	942	33	3	765	3	DSG1	18	28913606	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		28913606	49163642	55	3165											
OR7A5	26659	genome.wustl.edu	37	chr19	14939050	14939050	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtgtatcatttcctggttCcatttgattgaagtgactat	8	6	1	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr19:14939050C>A	ENST00000322301.3	-	2	91	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonsense_Mutation_p.E2*			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	2					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)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TTTCCTGGTTCCATTTGATTG	0.393																																																	0								ENSG00000188269						33	33	33					19																	14939050		2152	4245	6397	OR7A5	SO:0001587	stop_gained	0			-	HGNC	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.4G>T	19.37:g.14939050C>A	ENSP00000316955:p.Glu2*	Somatic	0	101	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	62	44.64	B2R682|Q6IFP1|Q96R96	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E2*	ENST00000322301.3	37	c.4	CCDS12318.1	19	.	.	.	.	.	.	.	.	.	.	c	17.83	3.485900	0.63962	.	.	ENSG00000188269	ENST00000322301	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.2501	0.54593	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000316955:E2X	E	-	1	0	OR7A5	14800050	0.035000	0.19736	0.210000	0.23637	0.250000	0.25880	0.418000	0.21230	1.807000	0.52817	0.134000	0.15878	GAA	-	NULL		0.393	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A5	protein_coding	OTTHUMT00000466518.1	C	NM_017506	-		14939050	-1	no_errors	ENST00000322301	ensembl	human	known	74_37	nonsense	SNP	0.810	A	A	14939050	C	A	14939050	4	1	56	1	0	0	0	0	0	1	0	0	11218	864	30	3	959	3	OR7A5	19	14939050	Nonsense_Mutation	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09		14939050	44189933	56	3166											
PRR12	57479	genome.wustl.edu	37	chr19	50100901	50100901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtacgagttcgaggcGgacgaggacaaggccgatgt	17	8	0	0			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr19:50100901G>A	ENST00000418929.2	+	4	3321	c.3309G>A	c.(3307-3309)gcG>gcA	p.A1103A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGTTCGAGGCGGACGAGGACA	0.672																																																	0								ENSG00000126464						11	16	14					19																	50100901		2086	4190	6276	PRR12	SO:0001819	synonymous_variant	0			-	HGNC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3309G>A	19.37:g.50100901G>A		Somatic	0	10	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	E9PB06|Q8N4J6	Silent	SNP							NULL	p.A1103	ENST00000418929.2	37	c.3309	CCDS46143.1	19																																																																																			-	NULL		0.672	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	protein_coding	OTTHUMT00000465915.1	G	NM_020719	-		50100901	1	no_errors	ENST00000418929	ensembl	human	novel	74_37	silent	SNP	0.240	A	A	50100901	G	A	50100901	2	1	56	1	0	0	0	0	0	0	0	1	12589	1103	39	1		1	PRR12	19	50100901	Silent	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	35161851	50100901	9028082	57	3167											
SAPS1	22870	genome.wustl.edu	37	chr19	55753603	55753604	+	Frame_Shift_Ins	INS	-	-	CC													gatgacagactggctctgctINSccccctcgaacatgttgctt							TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr19:55753603_55753604insCC	ENST00000412770.2	-	7	1341_1342	c.775_776insGG	c.(775-777)gagfs	p.E259fs	PPP6R1_ENST00000587283.1_Frame_Shift_Ins_p.E259fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	259	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.E259*(1)		breast(1)	1						CTGGCTCTGCTCCCCCTCGAAC	0.653																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000105063																																			PPP6R1	SO:0001589	frameshift_variant	0				HGNC	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.774_775dupGG	19.37:g.55753606_55753607dupCC	ENSP00000414202:p.Glu259fs	Somatic	0	46	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Ins	INS							pfam_SAPS,superfamily_ARM-type_fold	p.E259fs	ENST00000412770.2	37	c.776_775	CCDS46186.1	19																																																																																			-	pfam_SAPS,superfamily_ARM-type_fold		0.653	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	protein_coding	OTTHUMT00000452663.1	-	NM_014931			55753604	-1	no_errors	ENST00000412770	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	CC	CC	55753604	-	CC	55753603	7	5	56	1	0	1	1	0	0	0	0	0	13844	1551	54	0	1941	0	SAPS1	19	55753603	Frame_Shift_Ins	INS	-	TCGA-DX-A3UF-01A-11D-A307-09	5652702	55753603	3375380	58	3168											
PTPRA	5786	genome.wustl.edu	37	chr20	2988018	2988018	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctagagtccacctgacaccGgttgaaggggttccagattc	11	11	1	4	rs142755718		TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr20:2988018G>T	ENST00000216877.6	+	10	1231	c.831G>T	c.(829-831)ccG>ccT	p.P277P	PTPRA_ENST00000358719.4_Silent_p.P142P|PTPRA_ENST00000425918.2_Silent_p.P297P|PTPRA_ENST00000399903.2_Silent_p.P286P|PTPRA_ENST00000318266.5_Silent_p.P277P|PTPRA_ENST00000356147.3_Silent_p.P277P|PTPRA_ENST00000380393.3_Silent_p.P286P	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	286	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCTGACACCGGTTGAAGGGG	0.438																																																	0								ENSG00000132670						202	181	188					20																	2988018		2203	4300	6503	PTPRA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.831G>T	20.37:g.2988018G>T		Somatic	0	109	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP							pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P297	ENST00000216877.6	37	c.891	CCDS13039.1	20																																																																																			-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.438	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	G		-		2988018	1	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	SNP	0.930	T	T	2988018	G	T	2988018	2	4	56	1	0	0	0	0	0	0	0	1	12803	1103	39	3		3	PTPRA	20	2988018	Silent	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09		2988018	60037502	59	3169											
CRLS1	54675	genome.wustl.edu	37	chr20	5988051	5988051	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtagttggtcgagtatgCcacaggttatctggttgagt	14	6	1	1	rs533359179	byFrequency	TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chr20:5988051C>A	ENST00000378863.4	+	1	463				CRLS1_ENST00000452938.1_Intron|CRLS1_ENST00000378868.4_Missense_Mutation_p.P2T	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1						cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						GTCGAGTATGCCACAGGTTAT	0.393																																																	0								ENSG00000088766						128	116	120					20																	5988051		1568	3582	5150	CRLS1	SO:0001627	intron_variant	0			-	HGNC	AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"GCD10 homolog (S. cerevisiae)"	608188	"chromosome 20 open reading frame 155"	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.306+853C>A	20.37:g.5988051C>A		Somatic	0	112	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP							pfam_CDP-OH_P_trans,pirsf_Phosphatidylglycerol_P_synth	p.P2T	ENST00000378863.4	37	c.4	CCDS13096.1	20	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011337	0.35511	.	.	ENSG00000088766	ENST00000378868	.	.	.	5.44	4.44	0.53790	.	.	.	.	.	T	0.16981	0.0408	.	.	.	0.23445	N	0.997665	B	0.06786	0.001	B	0.08055	0.003	T	0.12863	-1.0531	7	0.06757	T	0.87	.	10.5025	0.44815	0.2059:0.7941:0.0:0.0	.	2	Q9UJA2-2	.	T	2	.	ENSP00000368145:P2T	P	+	1	0	CRLS1	5936051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.085000	0.41634	2.832000	0.97577	0.655000	0.94253	CCA	-	pirsf_Phosphatidylglycerol_P_synth		0.393	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLS1	protein_coding	OTTHUMT00000077902.2	C	NM_019095	-		5988051	1	no_errors	ENST00000378868	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5988051	C	A	5988051	1	1	56	0	1	0	0	0	0	0	0	0	3891	739	26	3		3	CRLS1	20	5988051	Intron	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	3000033	5988051	57037469	60	3170											
MAGED1	9500	genome.wustl.edu	37	chrX	51639866	51639866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtctggccgaatccacTggcctggcagaatccacctg	11	13	1	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chrX:51639866T>A	ENST00000375722.1	+	4	1367	c.1115T>A	c.(1114-1116)cTg>cAg	p.L372Q	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.L428Q|MAGED1_ENST00000375772.3_Missense_Mutation_p.L372Q|MAGED1_ENST00000326587.7_Missense_Mutation_p.L372Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	372	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCGAATCCACTGGCCTGGCAG	0.617										Multiple Myeloma(10;0.10)																																							0								ENSG00000179222						29	28	28					X																	51639866		2203	4300	6503	MAGED1	SO:0001583	missense	0			-	HGNC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1115T>A	X.37:g.51639866T>A	ENSP00000364874:p.Leu372Gln	Somatic	0	116	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	214	14.74	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.L428Q	ENST00000375722.1	37	c.1283	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627268	0.46944	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	3.84	2.69	0.31865	.	0.594559	0.12737	N	0.443390	T	0.39784	0.1091	N	0.08118	0	0.09310	N	1	D;D	0.71674	0.998;0.996	P;P	0.59703	0.862;0.731	T	0.21042	-1.0257	10	0.08837	T	0.75	.	6.1004	0.20043	0.0:0.1311:0.0:0.8689	.	428;372	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	Q	372;372;372;428	ENSP00000364927:L372Q;ENSP00000364874:L372Q;ENSP00000325333:L372Q;ENSP00000364847:L428Q	ENSP00000325333:L372Q	L	+	2	0	MAGED1	51656606	0.952000	0.32445	0.904000	0.35570	0.917000	0.54804	2.034000	0.41145	1.498000	0.48600	0.235000	0.17854	CTG	-	NULL		0.617	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	protein_coding	OTTHUMT00000056593.1	T	NM_001005332	-		51639866	1	no_errors	ENST00000375695	ensembl	human	known	74_37	missense	SNP	0.102	A	A	51639866	T	A	51639866	3	1	56	1	0	0	0	0	1	0	0	0	9185	1580	55	5	1297	5	MAGED1	23	51639866	Missense_Mutation	SNP	T	TCGA-DX-A3UF-01A-11D-A307-09		51639866	103630694	61	3171											
FOXO4	4303	genome.wustl.edu	37	chrX	70320988	70320988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccaccctcaatgaagGtctagagctgttagatgggc	10	13	2	3			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chrX:70320988G>T	ENST00000374259.3	+	2	1240	c.908G>T	c.(907-909)gGt>gTt	p.G303V	FOXO4_ENST00000341558.3_Missense_Mutation_p.G248V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	303					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTCAATGAAGGTCTAGAGCTG	0.572											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000184481						46	50	48					X																	70320988		2112	4196	6308	FOXO4	SO:0001583	missense	0			-	HGNC		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.908G>T	X.37:g.70320988G>T	ENSP00000363377:p.Gly303Val	Somatic	0	82	0	1121	0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	13.79	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G303V	ENST00000374259.3	37	c.908	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577420	0.28180	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95447	-3.46;-3.71	4.94	1.29	0.21616	.	0.467157	0.23530	N	0.047196	D	0.86674	0.5989	N	0.08118	0	0.41268	D	0.98682	B;B	0.19445	0.036;0.011	B;B	0.25140	0.058;0.018	T	0.73783	-0.3874	10	0.22109	T	0.4	-17.7582	7.613	0.28142	0.7389:0.0:0.2611:0.0	.	248;303	P98177-2;P98177	.;FOXO4_HUMAN	V	303;248	ENSP00000363377:G303V;ENSP00000342209:G248V	ENSP00000342209:G248V	G	+	2	0	FOXO4	70237713	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	3.438000	0.52871	-0.015000	0.14150	-0.415000	0.06103	GGT	-	NULL		0.572	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	protein_coding	OTTHUMT00000057115.1	G	NM_005938	-		70320988	1	no_errors	ENST00000374259	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70320988	G	T	70320988	3	4	56	1	0	0	0	0	1	0	0	0	6027	1261	44	3	914	3	FOXO4	23	70320988	Missense_Mutation	SNP	G	TCGA-DX-A3UF-01A-11D-A307-09	18681122	70320988	84949572	62	3172											
GUCY2F	2986	genome.wustl.edu	37	chrX	108628447	108628447	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccatccgagaagctgtgttCacagtgtctccaaacaagca	8	12	2	1			TCGA-DX-A3UF-01A-11D-A307-09	TCGA-DX-A3UF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ba1406-c89a-4509-927c-fc73304b5297	f6892671-6102-40e1-9d38-656a40b10c76	g.chrX:108628447C>A	ENST00000218006.2	-	16	3312	c.3021G>T	c.(3019-3021)gtG>gtT	p.V1007V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1007	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGCTGTGTTCACAGTGTCTC	0.488																																																	0								ENSG00000101890						139	99	113					X																	108628447		2203	4300	6503	GUCY2F	SO:0001819	synonymous_variant	0			-	HGNC	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3021G>T	X.37:g.108628447C>A		Somatic	0	49	0		0.595073705834968				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q9UJF1	Silent	SNP							pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.V1007	ENST00000218006.2	37	c.3021	CCDS14545.1	X																																																																																			-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	protein_coding	OTTHUMT00000057884.1	C	NM_001522	-		108628447	-1	no_errors	ENST00000218006	ensembl	human	known	74_37	silent	SNP	1.000	A	A	108628447	C	A	108628447	2	1	56	1	0	0	0	0	0	0	0	1	6900	813	29	3		3	GUCY2F	23	108628447	Silent	SNP	C	TCGA-DX-A3UF-01A-11D-A307-09	38307459	108628447	46642113	63	3173											
HES3	390992	genome.wustl.edu	37	chr1	6305511	6305511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctgcgccgagagtcccGggctgggcctgcgcgtgtgg	19	13	0	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr1:6305511G>T	ENST00000377898.3	+	4	570	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	169	Pro-rich.				hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CGAGAGTCCCGGGCTGGGCCT	0.697																																																	0								ENSG00000173673						7	9	8					1																	6305511		1657	3748	5405	HES3	SO:0001583	missense	0			-	HGNC		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"Basic helix-loop-helix proteins"	26226	protein-coding gene	gene with protein product		609971	"hairy and enhancer of split 3 (Drosophila)"				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.505G>T	1.37:g.6305511G>T	ENSP00000367130:p.Gly169Trp	Somatic	0	80	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q5TGS0	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G169W	ENST00000377898.3	37	c.505	CCDS41238.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955231	0.53293	.	.	ENSG00000173673	ENST00000377898	T	0.32753	1.44	2.9	1.95	0.26073	.	2.454950	0.02007	N	0.046722	T	0.39937	0.1097	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.30621	-0.9972	10	0.66056	D	0.02	-6.1494	5.1074	0.14790	0.1755:0.0:0.8245:0.0	.	169	Q5TGS1	HES3_HUMAN	W	169	ENSP00000367130:G169W	ENSP00000367130:G169W	G	+	1	0	HES3	6228098	0.250000	0.23951	0.008000	0.14137	0.326000	0.28443	1.472000	0.35376	0.766000	0.33244	0.289000	0.19496	GGG	-	NULL		0.697	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HES3	protein_coding	OTTHUMT00000003716.3	G	NM_001024598	-		6305511	1	no_errors	ENST00000377898	ensembl	human	known	74_37	missense	SNP	0.007	T	T	6305511	G	T	6305511	3	4	57	1	0	0	0	0	1	0	0	0	7069	1116	39	3	515	3	HES3	1	6305511	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09		6305511	242945110	1	3174											
F5	2153	genome.wustl.edu	37	chr1	169510957	169510957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtttgatagtgttccTctgggggcactgtctgataa	13	6	2	2			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr1:169510957T>C	ENST00000367797.3	-	13	3572	c.3371A>G	c.(3370-3372)gAg>gGg	p.E1124G	F5_ENST00000367796.3_Missense_Mutation_p.E1129G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1124	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATAGTGTTCCTCTGGGGGCAC	0.478																																																	0								ENSG00000198734						151	155	154					1																	169510957		2203	4300	6503	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3371A>G	1.37:g.169510957T>C	ENSP00000356771:p.Glu1124Gly	Somatic	0	105	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	65	40.37	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1124G	ENST00000367797.3	37	c.3371	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.462770	0.26248	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.22539	1.95;1.95	4.93	2.45	0.29901	.	0.694656	0.13436	N	0.388075	T	0.09335	0.0230	M	0.68952	2.095	0.25285	N	0.989405	B	0.12630	0.006	B	0.09377	0.004	T	0.07616	-1.0763	9	0.49607	T	0.09	-7.8335	6.5337	0.22341	0.0:0.0888:0.1556:0.7555	.	1124	P12259	FA5_HUMAN	G	1124;1129	ENSP00000356771:E1124G;ENSP00000356770:E1129G	ENSP00000356770:E1129G	E	-	2	0	F5	167777581	0.001000	0.12720	0.186000	0.23195	0.557000	0.35523	0.681000	0.25320	0.850000	0.35239	0.446000	0.29264	GAG	-	NULL		0.478	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	T	NM_000130	-		169510957	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	0.277	C	C	169510957	T	C	169510957	3	2	57	1	0	0	0	0	1	0	0	0	5350	1551	54	5	3355	5	F5	1	169510957	Missense_Mutation	SNP	T	TCGA-DX-A48J-01A-21D-A307-09	163205446	169510957	79739664	2	3175											
RASAL2	9462	genome.wustl.edu	37	chr1	178063820	178063820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaacagagctgggtcCgggtgtacggtaaggaccac	15	11	0	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr1:178063820C>T	ENST00000367649.3	+	1	545	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	RASAL2-AS1_ENST00000421505.1_lincRNA|RASAL2_ENST00000448150.3_Missense_Mutation_p.R47W			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAGCTGGGTCCGGGTGTACGG	0.577																																																	0								ENSG00000075391						46	38	41					1																	178063820		2203	4300	6503	RASAL2	SO:0001583	missense	0			-	HGNC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.193C>T	1.37:g.178063820C>T	ENSP00000356621:p.Arg65Trp	Somatic	0	34	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP							pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.R65W	ENST00000367649.3	37	c.193	CCDS1321.2	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344018	0.61073	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.21543	2.03;2.0	4.53	4.53	0.55603	.	0.133249	0.32015	N	0.006717	T	0.26521	0.0648	L	0.36672	1.1	0.46521	D	0.999089	D	0.58620	0.983	P	0.51016	0.656	T	0.02156	-1.1204	10	0.62326	D	0.03	.	14.5484	0.68050	0.0:1.0:0.0:0.0	.	65	F8W755	.	W	47;65	ENSP00000407768:R47W;ENSP00000356621:R65W	ENSP00000356621:R65W	R	+	1	2	RASAL2	176330443	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.253000	0.58791	2.224000	0.72417	0.491000	0.48974	CGG	-	smart_Pleckstrin_homology		0.577	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000352415.1	C	NM_170692	-		178063820	1	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	SNP	1.000	T	T	178063820	C	T	178063820	3	4	57	1	0	0	0	0	1	0	0	0	13072	643	23	1	195	1	RASAL2	1	178063820	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09	8552863	178063820	71186801	3	3176											
POMC	5443	genome.wustl.edu	37	chr2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCTGCTGCT													tcctcgcgcttctgccctgcINSgccgctgctgccgctgctgc					rs10654394	byFrequency	TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr2:25384456_25384457insGCTGCTGCT	ENST00000405623.1	-	3	752_753	c.297_298insAGCAGCAGC	c.(295-300)ggcgca>ggcAGCAGCAGCgca	p.99_100GA>GSSSA	POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GA>GSSSA|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GA>GSSSA|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GA>GSSSA			P01189	COLI_HUMAN	proopiomelanocortin	99			Missing. {ECO:0000269|PubMed:11244459, ECO:0000269|PubMed:7828531, ECO:0000269|PubMed:9768693}.		cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTCTGCCCTGCgccgctgctgc	0.728																																					Colon(110;1515 1566 8452 10082 43216)												0			GRCh37	CI042901|CI984063	POMC	I	rs10654394	ENSG00000115138																																			POMC	SO:0001652	inframe_insertion	0				HGNC		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.297_298insAGCAGCAGC	2.37:g.25384456_25384457insGCTGCTGCT	ENSP00000384092:p.Gly99_Ala100insSerSerSer	Somatic					0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1				P78442|Q53T23|Q9UD39|Q9UD40	In_Frame_Ins	INS							pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.99in_frame_insSSS	ENST00000405623.1	37	c.298_297	CCDS1717.1	2																																																																																			-	NULL		0.728	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	protein_coding	OTTHUMT00000211573.3	-	NM_001035256			25384457	-1	no_errors	ENST00000264708	ensembl	human	known	74_37	in_frame_ins	INS	0.404:0.522	GCTGCTGCT	GCTGCTGCT	25384457	-	GCTGCTGCT	25384456	7	5	57	1	0	1	1	0	0	0	0	0	12244	768	27	0	509	0	POMC	2	25384456	In_Frame_Ins	INS	-	TCGA-DX-A48J-01A-21D-A307-09		25384456	217814917	4	3177											
DNMT3A	1788	genome.wustl.edu	37	chr2	25469935	25469935	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcacctgcaggacctcgtaGatggctttgcggtacatggg	13	11	1	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr2:25469935G>T	ENST00000264709.3	-	9	1444	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	DNMT3A_ENST00000321117.5_Silent_p.I369I|DNMT3A_ENST00000402667.1_Silent_p.I146I|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Silent_p.I180I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	369	Interaction with DNMT1 and DNMT3B.				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)					GGACCTCGTAGATGGCTTTGC	0.602			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0								ENSG00000119772						130	91	104					2																	25469935		2203	4300	6503	DNMT3A	SO:0001819	synonymous_variant	0			-	HGNC		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.1107C>A	2.37:g.25469935G>T		Somatic	0	51	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.I369	ENST00000264709.3	37	c.1107	CCDS33157.1	2																																																																																			-	NULL		0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552	-		25469935	-1	no_errors	ENST00000264709	ensembl	human	known	74_37	silent	SNP	1.000	T	T	25469935	G	T	25469935	2	4	57	1	0	0	0	0	0	0	0	1	4678	932	33	3		3	DNMT3A	2	25469935	Silent	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	85479	25469935	217729438	5	3178											
ITGA6	3655	genome.wustl.edu	37	chr2	173355768	173355768	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaggagtctcacaactcaaGaaagaaacgggaaattactg	9	8	3	2			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr2:173355768G>T	ENST00000264106.6	+	22	3016	c.2813G>T	c.(2812-2814)aGa>aTa	p.R938I	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.R938I|ITGA6_ENST00000409080.1_Missense_Mutation_p.R899I|ITGA6_ENST00000264107.7_Missense_Mutation_p.R899I|ITGA6_ENST00000409532.1_Missense_Mutation_p.R780I|ITGA6_ENST00000343713.4_Missense_Mutation_p.R894I			P23229	ITA6_HUMAN	integrin, alpha 6	938					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CACAACTCAAGAAAGAAACGG	0.308																																																	0								ENSG00000091409						87	108	101					2																	173355768		2199	4299	6498	ITGA6	SO:0001583	missense	0			-	HGNC		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2813G>T	2.37:g.173355768G>T	ENSP00000264106:p.Arg938Ile	Somatic	0	42	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R938I	ENST00000264106.6	37	c.2813		2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511588	0.85389	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	0.998;0.965;0.998;1.0	T	0.79443	-0.1801	10	0.87932	D	0	.	16.3226	0.82956	0.0:0.0:1.0:0.0	.	894;923;899;899	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	I	780;899;938;938;894;899;938;894;66	ENSP00000386614:R780I;ENSP00000264107:R899I;ENSP00000264106:R938I;ENSP00000364369:R938I;ENSP00000341078:R894I;ENSP00000386896:R899I;ENSP00000406694:R938I;ENSP00000394169:R894I;ENSP00000388435:R66I	ENSP00000264106:R938I	R	+	2	0	ITGA6	173064014	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.934000	0.63491	2.534000	0.85438	0.460000	0.39030	AGA	-	pfam_Integrin_alpha-2		0.308	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	protein_coding		G		-		173355768	1	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	SNP	1.000	T	T	173355768	G	T	173355768	3	4	57	1	0	0	0	0	1	0	0	0	7882	942	33	3	2778	3	ITGA6	2	173355768	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	147885833	173355768	69843605	6	3179											
FAM134A	79137	genome.wustl.edu	37	chr2	220045810	220045810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatcctgctgtggcccctgGtggtttatcatgagctgatc	12	10	1	2			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr2:220045810G>T	ENST00000430297.2	+	6	803	c.667G>T	c.(667-669)Gtg>Ttg	p.V223L	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	223						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCCCCTGGTGGTTTATCA	0.522																																																	0								ENSG00000144567						133	128	130					2																	220045810		2203	4300	6503	FAM134A	SO:0001583	missense	0			-	HGNC	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.667G>T	2.37:g.220045810G>T	ENSP00000395249:p.Val223Leu	Somatic	0	85	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	38	44.12	Q6P1P5|Q9H0K7	Missense_Mutation	SNP							pfam_Reticulon	p.V223L	ENST00000430297.2	37	c.667	CCDS2434.1	2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980531	0.92982	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T;T	0.41758	0.99;1.06;0.99	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.45698	1.435	0.80722	D	1	P;P	0.48230	0.907;0.711	P;P	0.50405	0.64;0.507	T	0.24083	-1.0170	10	0.19147	T	0.46	-17.3832	19.0001	0.92830	0.0:0.0:1.0:0.0	.	16;223	E7EUL4;Q8NC44	.;F134A_HUMAN	L	16;223;16;16	ENSP00000403898:V16L;ENSP00000395249:V223L;ENSP00000391284:V16L	ENSP00000395249:V223L	V	+	1	0	FAM134A	219754054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.857000	0.99534	2.476000	0.83614	0.655000	0.94253	GTG	-	pfam_Reticulon		0.522	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	protein_coding	OTTHUMT00000336147.2	G	NM_024293	-		220045810	1	no_errors	ENST00000430297	ensembl	human	known	74_37	missense	SNP	1.000	T	T	220045810	G	T	220045810	3	4	57	1	0	0	0	0	1	0	0	0	5447	1261	44	3	689	3	FAM134A	2	220045810	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	46690042	220045810	23153563	7	3180											
ABCC5	10057	genome.wustl.edu	37	chr3	183646535	183646535	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctaagctcttcacttacAcattctttcatgtgtgtcct	4	14	4	0			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr3:183646535A>G	ENST00000334444.6	-	27	4173	c.3933T>C	c.(3931-3933)tgT>tgC	p.C1311C	ABCC5_ENST00000265586.6_Splice_Site_p.C1268C	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1311	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTTCACTTACACATTCTTTCA	0.527																																																	0								ENSG00000114770						118	123	121					3																	183646535		2057	4191	6248	ABCC5	SO:0001630	splice_region_variant	0			-	HGNC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3933+1T>C	3.37:g.183646535A>G		Somatic	0	32	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.C1311	ENST00000334444.6	37	c.3933	CCDS43176.1	3																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.527	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	protein_coding	OTTHUMT00000346350.1	A	NM_005688	-	Silent	183646535	-1	no_errors	ENST00000334444	ensembl	human	known	74_37	silent	SNP	1.000	G	G	183646535	A	G	183646535	5	3	57	1	0	0	0	0	0	0	1	0	56	173	6	5	396	5	ABCC5	3	183646535	Splice_Site	SNP	A	TCGA-DX-A48J-01A-21D-A307-09		183646535	14375895	8	3181											
LNX1	84708	genome.wustl.edu	37	chr4	54327211	54327212	+	Splice_Site	INS	-	-	A													agaagaatatcaccacatctINSaaaaaaaaaaacaaaacaag					rs60909872|rs150358881|rs572804300|rs397939876	byFrequency	TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr4:54327211_54327212insA	ENST00000263925.7	-	11	2366		c.e11-2		FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Splice_Site	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						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)	p.?(1)		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)			TCACCACATCTAAAAAAAAAAA	0.332																																																	1	Unknown(1)	ovary(1)						ENSG00000072201																																			LNX1	SO:0001630	splice_region_variant	0				HGNC	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.2052-2->T	4.37:g.54327222_54327222dupA		Somatic	0	28	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Splice_Site	INS							-	e10-2	ENST00000263925.7	37	c.2052-3_2052-2	CCDS47057.1	4																																																																																			-	-		0.332	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	protein_coding	OTTHUMT00000219934.2	-			Intron	54327212	-1	no_errors	ENST00000263925	ensembl	human	known	74_37	splice_site_ins	INS	0.694:0.015	A	A	54327212	-	A	54327211	8	5	57	1	0	1	1	0	0	0	1	0	8867	1536	53	0	140	0	LNX1	4	54327211	Splice_Site	INS	-	TCGA-DX-A48J-01A-21D-A307-09		54327211	136827065	9	3182											
HLA-DRB1	3123	genome.wustl.edu	37	chr6	32548628	32548628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtgcagattcagaccGtgctcctgagagaggaagcc	13	11	2	4	rs34624872	byFrequency	TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr6:32548628G>A	ENST00000360004.5	-	4	763	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	220	Beta-2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GATTCAGACCGTGCTCCTGAG	0.483										Multiple Myeloma(14;0.17)																																							0								ENSG00000196126						77	86	83					6																	32548628		1511	2709	4220	HLA-DRB1	SO:0001583	missense	0			-	HGNC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.658C>T	6.37:g.32548628G>A	ENSP00000353099:p.Arg220Trp	Somatic	1	133	0.75		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	P01914|Q9MYF5	Missense_Mutation	SNP							pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R220W	ENST00000360004.5	37	c.658	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	12.70	2.016010	0.35606	.	.	ENSG00000196126	ENST00000360004	T	0.00635	6.06	3.98	3.98	0.46160	Immunoglobulin-like fold (3);	0.849923	0.10912	N	0.620484	T	0.00580	0.0019	L	0.56769	1.78	0.24665	N	0.993446	B;B;D	0.71674	0.007;0.007;0.998	B;B;P	0.47430	0.0;0.001;0.547	T	0.53995	-0.8359	10	0.66056	D	0.02	.	10.0825	0.42399	0.0:0.2056:0.7944:0.0	rs34624872	220;220;220	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	W	220	ENSP00000353099:R220W	ENSP00000353099:R220W	R	-	1	2	HLA-DRB1	32656606	0.013000	0.17824	0.747000	0.31113	0.149000	0.21700	1.804000	0.38873	1.943000	0.56356	0.453000	0.30009	CGG	-	NULL		0.483	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	protein_coding	OTTHUMT00000076393.3	G	NM_002124	rs34624872		32548628	-1	no_errors	ENST00000360004	ensembl	human	known	74_37	missense	SNP	0.988	A	A	32548628	G	A	32548628	3	1	57	1	0	0	0	0	1	0	0	0	7210	1144	40	1	154	1	HLA-DRB1	6	32548628	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09		32548628	138566439	10	3183											
GSTA4	2941	genome.wustl.edu	37	chr6	52849261	52849261	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcatctctgccacctaCcttttcaaacacaggaaagt	7	12	2	0			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr6:52849261C>A	ENST00000370959.1	-	5	532		c.e5+1		GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000541324.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CTGCCACCTACCTTTTCAAAC	0.418																																																	0								ENSG00000170899						108	96	100					6																	52849261		2203	4300	6503	GSTA4	SO:0001630	splice_region_variant	0			-	HGNC	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	4629	protein-coding gene	gene with protein product		605450	"glutathione S-transferase A4"			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.414+1G>T	6.37:g.52849261C>A		Somatic	0	208	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	20	81.82	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Splice_Site	SNP							-	e4+1	ENST00000370959.1	37	c.414+1	CCDS4948.1	6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284616	0.80803	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3562	0.90358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSTA4	52957220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.088000	0.71371	2.507000	0.84556	0.557000	0.71058	.	-	-		0.418	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA4	protein_coding	OTTHUMT00000040946.1	C	NM_001512	-	Intron	52849261	-1	no_errors	ENST00000370959	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	52849261	C	A	52849261	5	1	57	1	0	0	0	0	0	0	1	0	6835	521	18	3	265	3	GSTA4	6	52849261	Splice_Site	SNP	C	TCGA-DX-A48J-01A-21D-A307-09	20300633	52849261	118265806	11	3184											
ENPP1	5167	genome.wustl.edu	37	chr6	132211605	132211605	+	Frame_Shift_Del	DEL	T	T	-													aaaagagccagtttcagacaTtttaaagttgaaaacacatt							TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr6:132211605delT	ENST00000360971.2	+	25	2752	c.2732delT	c.(2731-2733)attfs	p.I911fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	911	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|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 ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTTTCAGACATTTTAAAGTTG	0.358																																					Colon(104;336 1535 5856 11019 33782)												0								ENSG00000197594						98	94	95					6																	132211605		2203	4300	6503	ENPP1	SO:0001589	frameshift_variant	0				HGNC	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2732delT	6.37:g.132211605delT	ENSP00000354238:p.Ile911fs	Somatic	0	42	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Frame_Shift_Del	DEL							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L912fs	ENST00000360971.2	37	c.2732	CCDS5150.2	6																																																																																			-	NULL		0.358	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	protein_coding	OTTHUMT00000042238.2	T				132211605	1	no_errors	ENST00000360971	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	132211605	T	-	132211605	7	5	57	1	0	1	0	1	0	0	0	0	5131	1493	52	0	2830	0	ENPP1	6	132211605	Frame_Shift_Del	DEL	T	TCGA-DX-A48J-01A-21D-A307-09	79362344	132211605	38903462	12	3185											
GCK	2645	genome.wustl.edu	37	chr7	44187337	44187337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccggagtccccgaaggCgccccactcggtattgacgc	12	17	0	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr7:44187337C>T	ENST00000403799.3	-	7	1244	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	GCK_ENST00000395796.3_Missense_Mutation_p.A258T|GCK_ENST00000437084.1_Missense_Mutation_p.A242T|GCK_ENST00000345378.2_Missense_Mutation_p.A260T	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	259	Hexokinase type-2.		A -> T (in MODY2). {ECO:0000269|PubMed:9662401}.		calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCCCGAAGGCGCCCCACTCG	0.642																																																	0			GRCh37	CM980894	GCK	M		ENSG00000106633						72	71	71					7																	44187337		2203	4300	6503	GCK	SO:0001583	missense	0			-	HGNC	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.775G>A	7.37:g.44187337C>T	ENSP00000384247:p.Ala259Thr	Somatic	0	48	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.A260T	ENST00000403799.3	37	c.778	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.650711	0.96714	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	5.23	5.23	0.72850	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97387	0.9145	M	0.92412	3.305	0.80722	D	1	P;P;P	0.49961	0.922;0.93;0.904	P;P;B	0.45167	0.472;0.449;0.341	D	0.98638	1.0674	10	0.87932	D	0	-21.9406	18.3902	0.90479	0.0:1.0:0.0:0.0	.	259;260;258	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	T	259;258;260;242	ENSP00000384247:A259T;ENSP00000379142:A258T;ENSP00000223366:A260T;ENSP00000402840:A242T	ENSP00000223366:A260T	A	-	1	0	GCK	44153862	1.000000	0.71417	0.969000	0.41365	0.763000	0.43281	7.739000	0.84976	2.444000	0.82710	0.561000	0.74099	GCC	-	pfam_Hexokinase_C		0.642	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	protein_coding	OTTHUMT00000251069.2	C		-		44187337	-1	no_errors	ENST00000345378	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44187337	C	T	44187337	3	4	57	1	0	0	0	0	1	0	0	0	6295	768	27	1	638	1	GCK	7	44187337	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09		44187337	114951326	13	3186											
MYO3A	53904	genome.wustl.edu	37	chr10	26310463	26310463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagcaattggataccaCttatgacgccagatgtgaca	9	9	0	4			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr10:26310463C>T	ENST00000265944.5	+	8	783	c.617C>T	c.(616-618)aCt>aTt	p.T206I	MYO3A_ENST00000543632.1_Missense_Mutation_p.T206I|MYO3A_ENST00000376302.1_Missense_Mutation_p.T206I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	206	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						TTGGATACCACTTATGACGCC	0.443																																																	0								ENSG00000095777						196	166	176					10																	26310463		2203	4300	6503	MYO3A	SO:0001583	missense	0			-	HGNC	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.617C>T	10.37:g.26310463C>T	ENSP00000265944:p.Thr206Ile	Somatic	0	43	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	18	64.00	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.T206I	ENST00000265944.5	37	c.617	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555042	0.86231	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632	T;T;T	0.66099	-0.19;-0.19;-0.19	6.03	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.187775	0.56097	D	0.000032	T	0.56062	0.1960	N	0.16266	0.395	0.53688	D	0.99997	P;P;P;B	0.46064	0.551;0.606;0.872;0.431	B;B;P;B	0.48524	0.178;0.272;0.58;0.234	T	0.62062	-0.6933	10	0.72032	D	0.01	.	16.1309	0.81436	0.1341:0.8659:0.0:0.0	.	206;206;206;206	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	I	206	ENSP00000265944:T206I;ENSP00000365479:T206I;ENSP00000445909:T206I	ENSP00000265944:T206I	T	+	2	0	MYO3A	26350469	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.023000	0.57211	2.861000	0.98227	0.655000	0.94253	ACT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.443	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	C	NM_017433	-		26310463	1	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26310463	C	T	26310463	3	4	57	1	0	0	0	0	1	0	0	0	10078	565	20	2	639	2	MYO3A	10	26310463	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09		26310463	109224284	14	3187											
C10orf68	79741	genome.wustl.edu	37	chr10	33140795	33140795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaagcaatttatagaaCatatagggctggtccaagct	8	7	1	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr10:33140795C>T	ENST00000375030.2	+	21	2180	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	C10orf68_ENST00000375028.3_Missense_Mutation_p.T566I|C10orf68_ENST00000375025.4_Missense_Mutation_p.T626I			Q9H943	CJ068_HUMAN		562										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATTTATAGAACATATAGGGCT	0.343																																																	0								ENSG00000150076						135	147	143					10																	33140795		2203	4299	6502	C10orf68	SO:0001583	missense	0			-	HGNC																												ENST00000375030.2:c.1562C>T	10.37:g.33140795C>T	ENSP00000364170:p.Thr521Ile	Somatic	0	43	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP							NULL	p.T626I	ENST00000375030.2	37	c.1877		10	.	.	.	.	.	.	.	.	.	.	.	7.400	0.632497	0.14322	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.28895	1.61;1.6;1.59;1.59	3.17	-2.98	0.05513	.	.	.	.	.	T	0.17746	0.0426	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.25667	0.012;0.131;0.131;0.021	B;B;B;B	0.22601	0.007;0.027;0.04;0.016	T	0.29792	-1.0000	9	0.66056	D	0.02	.	0.6371	0.00804	0.1743:0.2598:0.1723:0.3936	.	543;562;566;521	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	I	562;521;566;626;538	ENSP00000303710:T562I;ENSP00000364170:T521I;ENSP00000364168:T566I;ENSP00000364165:T626I	ENSP00000303710:T562I	T	+	2	0	C10orf68	33180801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.859000	0.01657	-0.673000	0.05259	-0.143000	0.13931	ACA	-	NULL		0.343	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	protein_coding	OTTHUMT00000313999.2	C		-		33140795	1	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	SNP	0.000	T	T	33140795	C	T	33140795	3	4	57	1	0	0	0	0	1	0	0	0	1615	478	17	2	1755	2	C10orf68	10	33140795	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09	6830332	33140795	102393952	15	3188											
UBE3B	89910	genome.wustl.edu	37	chr12	109968375	109968375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacacagtctactacggtgGtttccatggaagtcacagag	11	10	2	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr12:109968375G>T	ENST00000342494.3	+	26	3429	c.2834G>T	c.(2833-2835)gGt>gTt	p.G945V	UBE3B_ENST00000434735.2_Missense_Mutation_p.G945V|UBE3B_ENST00000535089.1_Missense_Mutation_p.G32V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	945	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TACTACGGTGGTTTCCATGGA	0.493																																																	0								ENSG00000151148						144	128	134					12																	109968375		2203	4300	6503	UBE3B	SO:0001583	missense	0			-	HGNC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2834G>T	12.37:g.109968375G>T	ENSP00000340596:p.Gly945Val	Somatic	0	27	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP							pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G945V	ENST00000342494.3	37	c.2834	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845395	0.91197	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070;ENST00000535089	T;T;D	0.86097	0.45;0.45;-2.07	5.56	5.56	0.83823	HECT (4);	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94798	0.7968	10	0.87932	D	0	-18.7058	18.5098	0.90911	0.0:0.0:1.0:0.0	.	240;945	F5H2J2;Q7Z3V4	.;UBE3B_HUMAN	V	945;945;240;32	ENSP00000391529:G945V;ENSP00000340596:G945V;ENSP00000442276:G32V	ENSP00000340596:G945V	G	+	2	0	UBE3B	108452758	1.000000	0.71417	0.860000	0.33809	0.760000	0.43138	9.338000	0.96553	2.626000	0.88956	0.655000	0.94253	GGT	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.493	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	protein_coding	OTTHUMT00000403119.1	G	NM_183415	-		109968375	1	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109968375	G	T	109968375	3	4	57	1	0	0	0	0	1	0	0	0	16887	1261	44	3	2928	3	UBE3B	12	109968375	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09		109968375	23883520	16	3189											
TMEM132D	121256	genome.wustl.edu	37	chr12	129694177	129694177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggccaccgtcttccccGtgaggatggctgtgttcagg	15	12	2	1			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr12:129694177G>A	ENST00000422113.2	-	5	1657	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	444					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTCTTCCCCGTGAGGATGGC	0.592																																																	0								ENSG00000151952						93	74	80					12																	129694177		2203	4300	6503	TMEM132D	SO:0001583	missense	0			-	HGNC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1331C>T	12.37:g.129694177G>A	ENSP00000408581:p.Thr444Met	Somatic	0	49	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP							NULL	p.T444M	ENST00000422113.2	37	c.1331	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499800	0.85176	.	.	ENSG00000151952	ENST00000422113	T	0.17691	2.26	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.47820	0.1466	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.54873	-0.8228	9	.	.	.	-23.1339	14.6727	0.68956	0.0:0.0:0.8542:0.1458	.	444	Q14C87	T132D_HUMAN	M	444	ENSP00000408581:T444M	.	T	-	2	0	TMEM132D	128260130	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.321000	0.79088	2.446000	0.82766	0.655000	0.94253	ACG	-	NULL		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	G	NM_133448	-		129694177	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129694177	G	A	129694177	3	1	57	1	0	0	0	0	1	0	0	0	16054	1145	40	1	1988	1	TMEM132D	12	129694177	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	19725802	129694177	4157718	17	3190											
TMED10	10972	genome.wustl.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																																	0								ENSG00000170348																																			TMED10	SO:0001630	splice_region_variant	0				HGNC	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA		Somatic	0	38	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS							-	e5-2	ENST00000303575.4	37	c.539-3_539-2	CCDS9840.1	14																																																																																			-	-		0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED10	protein_coding	OTTHUMT00000415034.1	-	NM_006827		Intron	75601712	-1	no_errors	ENST00000303575	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.961	A	A	75601712	-	A	75601711	8	5	57	1	0	1	1	0	0	0	1	0	16010	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-DX-A48J-01A-21D-A307-09		75601711	31747829	18	3191											
TELO2	9894	genome.wustl.edu	37	chr16	1550652	1550652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcatgatcgtggcagaGgtcgttagtgcccggatcca	15	10	0	2			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr16:1550652G>T	ENST00000262319.6	+	9	1512	c.1233G>T	c.(1231-1233)gaG>gaT	p.E411D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	411					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCGTGGCAGAGGTCGTTAGTG	0.697																																																	0								ENSG00000100726						38	42	40					16																	1550652		2198	4299	6497	TELO2	SO:0001583	missense	0			-	HGNC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1233G>T	16.37:g.1550652G>T	ENSP00000262319:p.Glu411Asp	Somatic	0	32	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP							pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.E411D	ENST00000262319.6	37	c.1233	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	g	13.97	2.397211	0.42512	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.84944	-1.92	4.79	-0.243	0.13035	.	0.047821	0.85682	N	0.000000	D	0.90373	0.6987	M	0.84326	2.69	0.43959	D	0.996638	D	0.89917	1.0	D	0.91635	0.999	D	0.86844	0.2019	10	0.44086	T	0.13	-28.9035	8.9679	0.35887	0.441:0.0:0.559:0.0	.	411	Q9Y4R8	TELO2_HUMAN	D	25;411	ENSP00000262319:E411D	ENSP00000262319:E411D	E	+	3	2	TELO2	1490653	1.000000	0.71417	0.193000	0.23327	0.007000	0.05969	1.465000	0.35299	-0.306000	0.08818	0.651000	0.88453	GAG	-	NULL		0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	protein_coding	OTTHUMT00000103602.2	G	NM_016111	-		1550652	1	no_errors	ENST00000262319	ensembl	human	known	74_37	missense	SNP	0.755	T	T	1550652	G	T	1550652	3	4	57	1	0	0	0	0	1	0	0	0	15764	991	35	3	1263	3	TELO2	16	1550652	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09		1550652	88804101	19	3192											
DNAH3	55567	genome.wustl.edu	37	chr16	21108691	21108691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cataccattcatccattcctCtgacttgatgctgaactcat	4	13	3	3			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr16:21108691C>G	ENST00000261383.3	-	18	2649	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.E884Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	884	Stem. {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)			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)		ATCCATTCCTCTGACTTGATG	0.478																																																	0								ENSG00000158486						219	174	189					16																	21108691		2201	4300	6501	DNAH3	SO:0001583	missense	0			-	HGNC	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.2650G>C	16.37:g.21108691C>G	ENSP00000261383:p.Glu884Gln	Somatic	0	37	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E884Q	ENST00000261383.3	37	c.2650	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179988	0.38511	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61510	0.1;0.1	5.26	5.26	0.73747	Dynein heavy chain, domain-2 (1);	0.064020	0.64402	D	0.000008	T	0.56292	0.1975	L	0.52011	1.625	0.58432	D	0.999999	P	0.41232	0.743	B	0.40506	0.331	T	0.56263	-0.8008	10	0.36615	T	0.2	.	18.824	0.92109	0.0:1.0:0.0:0.0	.	884	Q8TD57	DYH3_HUMAN	Q	884	ENSP00000261383:E884Q;ENSP00000394245:E884Q	ENSP00000261383:E884Q	E	-	1	0	DNAH3	21016192	0.999000	0.42202	0.959000	0.39883	0.185000	0.23345	4.572000	0.60886	2.627000	0.88993	0.650000	0.86243	GAG	-	pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	C	NM_017539	-		21108691	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	SNP	0.999	G	G	21108691	C	G	21108691	3	3	57	1	0	0	0	0	1	0	0	0	4605	922	32	4	9879	4	DNAH3	16	21108691	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09	19558039	21108691	69246062	20	3193											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	ENSG00000141510						50	50	50					17																	7578406		2203	4300	6503	TP53	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;	-	HGNC	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic	0	30	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	2	89.47	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	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);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs28934578		7578406	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7578406	C	T	7578406	3	4	57	1	0	0	0	0	1	0	0	0	16388	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09		7578406	73616804	21	3194											
VTN	7448	genome.wustl.edu	37	chr17	26696630	26696630	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctgaggtctccctggatGaagggtctcaggccttgagt	16	9	2	3			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr17:26696630G>T	ENST00000226218.4	-	3	1045	c.427C>A	c.(427-429)Cat>Aat	p.H143N	VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	143					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTCCCTGGATGAAGGGTCTCA	0.612																																																	0								ENSG00000109072						38	38	38					17																	26696630		2203	4300	6503	VTN	SO:0001583	missense	0			-	HGNC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.427C>A	17.37:g.26696630G>T	ENSP00000226218:p.His143Asn	Somatic	0	28	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP							pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.H143N	ENST00000226218.4	37	c.427	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	G	7.085	0.571046	0.13623	.	.	ENSG00000255604	ENST00000226218	T	0.03951	3.75	5.79	-1.77	0.07982	.	1.188450	0.05656	N	0.585945	T	0.02047	0.0064	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	10	0.16420	T	0.52	-0.8684	4.5133	0.11923	0.1608:0.3753:0.3402:0.1237	.	143	P04004	VTNC_HUMAN	N	143	ENSP00000226218:H143N	ENSP00000226218:H143N	H	-	1	0	AC002094.1	23720757	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.942000	0.03921	0.051000	0.15978	-0.270000	0.10280	CAT	-	NULL		0.612	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	protein_coding	OTTHUMT00000255680.2	G	NM_000638	-		26696630	-1	no_errors	ENST00000226218	ensembl	human	known	74_37	missense	SNP	0.000	T	T	26696630	G	T	26696630	3	4	57	1	0	0	0	0	1	0	0	0	17244	1290	45	3	1033	3	VTN	17	26696630	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	19118224	26696630	54498580	22	3195											
KIAA0100	9703	genome.wustl.edu	37	chr17	26961805	26961805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgttccaaagaggcatagaGctcctcaattttgcgggcag	12	10	1	2			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr17:26961805G>T	ENST00000528896.2	-	16	2874	c.2800C>A	c.(2800-2802)Ctc>Atc	p.L934I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L791I|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L791I|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	934						extracellular region (GO:0005576)		p.L934I(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGGCATAGAGCTCCTCAATT	0.522																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000007202						179	189	186					17																	26961805		2203	4300	6503	KIAA0100	SO:0001583	missense	0			-	HGNC	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2800C>A	17.37:g.26961805G>T	ENSP00000436773:p.Leu934Ile	Somatic	0	58	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP							pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.L934I	ENST00000528896.2	37	c.2800	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552130	0.86127	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.32988	1.43;1.45	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.62266	1.93	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.51180	-0.8738	10	0.52906	T	0.07	.	20.2651	0.98459	0.0:0.0:1.0:0.0	.	934	Q14667	K0100_HUMAN	I	934;904;934;791	ENSP00000436773:L934I;ENSP00000446443:L791I	ENSP00000005905:L934I	L	-	1	0	KIAA0100	23985932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.256000	0.95535	2.796000	0.96246	0.563000	0.77884	CTC	-	NULL		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	protein_coding	OTTHUMT00000390571.3	G	NM_014680	-		26961805	-1	no_errors	ENST00000528896	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26961805	G	T	26961805	3	4	57	1	0	0	0	0	1	0	0	0	8156	971	34	3	4003	3	KIAA0100	17	26961805	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	265175	26961805	54233405	23	3196											
IMP5	162540	genome.wustl.edu	37	chr17	43924079	43924079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcagtgatagctccgagGgctggagtgacgcccacttg	14	12	0	2			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr17:43924079G>A	ENST00000329196.5	+	1	1824	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	603						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										TAGCTCCGAGGGCTGGAGTGA	0.572																																																	0								ENSG00000185294						119	101	107					17																	43924079		2203	4300	6503	SPPL2C	SO:0001583	missense	0			-	HGNC		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1807G>A	17.37:g.43924079G>A	ENSP00000332488:p.Gly603Ser	Somatic	0	32	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q8TC67|Q8WVZ6	Missense_Mutation	SNP							pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.G603S	ENST00000329196.5	37	c.1807	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874324	0.51695	.	.	ENSG00000185294	ENST00000329196	T	0.10192	2.9	4.68	2.69	0.31865	.	0.154448	0.30302	N	0.009925	T	0.07458	0.0188	L	0.29908	0.895	0.30555	N	0.765105	B	0.27882	0.192	B	0.23150	0.044	T	0.09335	-1.0679	10	0.62326	D	0.03	-41.243	7.1956	0.25851	0.2007:0.0:0.7993:0.0	.	603	Q8IUH8	IMP5_HUMAN	S	603	ENSP00000332488:G603S	ENSP00000332488:G603S	G	+	1	0	AC217771.1	41279859	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	4.109000	0.57824	0.684000	0.31448	0.655000	0.94253	GGC	-	NULL		0.572	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	protein_coding	OTTHUMT00000441156.1	G	NM_175882	-		43924079	1	no_errors	ENST00000329196	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43924079	G	A	43924079	3	1	57	1	0	0	0	0	1	0	0	0	7723	1232	43	2	1809	2	IMP5	17	43924079	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09	16962274	43924079	37271131	24	3197											
SEH1L	81929	genome.wustl.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																																	0								ENSG00000085415																																			SEH1L	SO:0001624	3_prime_UTR_variant	0				HGNC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC		Somatic	0	25	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P383in_frame_del	ENST00000262124.11	37	c.1137_1139	CCDS45832.1	18																																																																																			-	NULL		0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	protein_coding	OTTHUMT00000458254.1	TCC	NM_031216			12986929	1	no_errors	ENST00000399892	ensembl	human	known	74_37	in_frame_del	DEL	0.997:1.000:1.000	-	-	12986929	TCC	-	12986927	6	5	57	0	1	1	0	1	0	0	0	0	14017	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-DX-A48J-01A-21D-A307-09		12986927	65090321	25	3198											
ZNF134	7693	genome.wustl.edu	37	chr19	58132422	58132422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcatgagagtattcacactgGagaaaatccttatgattgca	9	7	1	3			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr19:58132422G>T	ENST00000396161.5	+	3	1245	c.935G>T	c.(934-936)gGa>gTa	p.G312V		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	312					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATTCACACTGGAGAAAATCCT	0.423																																																	0								ENSG00000213762						127	130	129					19																	58132422		2202	4300	6502	ZNF134	SO:0001583	missense	0			-	HGNC	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.935G>T	19.37:g.58132422G>T	ENSP00000379464:p.Gly312Val	Somatic	0	37	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q9Y4B2	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G312V	ENST00000396161.5	37	c.935	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919383	0.73098	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.01599	4.74	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	M	0.69523	2.12	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.00926	-1.1512	9	0.87932	D	0	.	16.3388	0.83075	0.0:0.0:1.0:0.0	.	312	P52741	ZN134_HUMAN	V	379;232;312	ENSP00000379464:G312V	ENSP00000379464:G312V	G	+	2	0	ZNF134	62824234	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	2.093000	0.41710	2.458000	0.83093	0.561000	0.74099	GGA	-	pfscan_Znf_C2H2		0.423	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	protein_coding	OTTHUMT00000466808.1	G	NM_003435	-		58132422	1	no_errors	ENST00000396161	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58132422	G	T	58132422	3	4	57	1	0	0	0	0	1	0	0	0	17731	1174	41	3	941	3	ZNF134	19	58132422	Missense_Mutation	SNP	G	TCGA-DX-A48J-01A-21D-A307-09		58132422	996561	26	3199											
DBNDD2	55861	genome.wustl.edu	37	chr20	44038638	44038640	+	In_Frame_Del	DEL	CCT	CCT	-													agacaggaccacatctaggaCctcctcctcctcctcctccg							TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chr20:44038638_44038640delCCT	ENST00000372720.3	+	4	869_871	c.638_640delCCT	c.(637-642)acctcc>acc	p.S219del	DBNDD2_ENST00000372723.3_In_Frame_Del_p.S121del|DBNDD2_ENST00000372712.2_In_Frame_Del_p.S121del|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372722.3_3'UTR|DBNDD2_ENST00000372717.1_3'UTR|DBNDD2_ENST00000372710.3_In_Frame_Del_p.S223del|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000360981.4_In_Frame_Del_p.S121del|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_In_Frame_Del_p.S121del	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	219	Poly-Ser.				negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACATCTAGGAcctcctcctcctc	0.567																																																	0								ENSG00000244274		,,,,,,,,	41,2,3581		10,0,21,0,2,1779					,,,,,,,,	4.5	1		dbSNP_126	47	104,7,7269		32,0,40,1,5,3612	no	codingComplex,codingComplex,codingComplex,utr-3,codingComplex,utr-3,codingComplex,utr-3,codingComplex	DBNDD2	NM_018478.3,NM_001197140.1,NM_001197139.1,NM_001048226.2,NM_001048225.2,NM_001048224.2,NM_001048223.2,NM_001048222.2,NM_001048221.2	,,,,,,,,	42,0,61,1,7,5391	A1A1,A1A2,A1R,A2A2,A2R,RR		1.5041,1.1865,1.3995	,,,,,,,,	,,,,,,,,		145,9,10850				DBNDD2	SO:0001651	inframe_deletion	0				HGNC	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.638_640delCCT	20.37:g.44038647_44038649delCCT	ENSP00000361805:p.Ser219del	Somatic	0	16	0		0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	In_Frame_Del	DEL							pfam_Dysbindin	p.S217in_frame_del	ENST00000372720.3	37	c.638_640	CCDS56193.1	20																																																																																			-	pfam_Dysbindin		0.567	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	DBNDD2	protein_coding	OTTHUMT00000079438.1	CCT	NM_018478			44038640	1	no_errors	ENST00000372720	ensembl	human	known	74_37	in_frame_del	DEL	0.980:0.959:0.969	-	-	44038640	CCT	-	44038638	7	5	57	1	0	1	0	1	0	0	0	0	4256	507	18	0	416	0	DBNDD2	20	44038638	In_Frame_Del	DEL	CCT	TCGA-DX-A48J-01A-21D-A307-09		44038638	18986882	27	3200											
HCFC1	3054	genome.wustl.edu	37	chrX	153230115	153230115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcccgtcacacacgaagcCataggctgcacacccagggg	11	15	1	0			TCGA-DX-A48J-01A-21D-A307-09	TCGA-DX-A48J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c31d841a-1b54-4e64-bde0-e458668a7f88	130d56bf-7533-4fbc-bea1-bc8973a3b123	g.chrX:153230115C>A	ENST00000310441.7	-	2	1222	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	HCFC1_ENST00000354233.3_Missense_Mutation_p.G86C|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.G86C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	86					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)					CACACGAAGCCATAGGCTGCA	0.582											OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000172534						97	107	104					X																	153230115		2149	4222	6371	HCFC1	SO:0001583	missense	0			-	HGNC		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.256G>T	X.37:g.153230115C>A	ENSP00000309555:p.Gly86Cys	Somatic	0	34	0	1754	0.589814178379894				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q6P4G5	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.G86C	ENST00000310441.7	37	c.256	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835451	0.91117	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.68624	-0.33;-0.33;-0.34	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81202	-0.1040	10	0.87932	D	0	.	16.9947	0.86363	0.0:1.0:0.0:0.0	.	86	P51610	HCFC1_HUMAN	C	86	ENSP00000309555:G86C;ENSP00000359001:G86C;ENSP00000346174:G86C	ENSP00000309555:G86C	G	-	1	0	HCFC1	152883309	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.398000	0.79919	2.276000	0.75962	0.468000	0.43344	GGC	-	NULL		0.582	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	C	NM_005334	-		153230115	-1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153230115	C	A	153230115	3	1	57	1	0	0	0	0	1	0	0	0	6993	594	21	3	5951	3	HCFC1	23	153230115	Missense_Mutation	SNP	C	TCGA-DX-A48J-01A-21D-A307-09		153230115	2040445	28	3201											
TNFRSF9	3604	genome.wustl.edu	37	chr1	7995073	7995073	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggcatagcccagttacCtggctctctcgcaggggcag	12	12	1	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr1:7995073C>T	ENST00000377507.3	-	6	710	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	182					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|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;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCAGTTACCTGGCTCTCTC	0.537																																																	0								ENSG00000049249						76	67	70					1																	7995073		2203	4300	6503	TNFRSF9	SO:0001630	splice_region_variant	0			-	HGNC	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.544+1G>A	1.37:g.7995073C>T		Somatic	0	52	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87		Missense_Mutation	SNP							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9	p.G182R	ENST00000377507.3	37	c.544	CCDS92.1	1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081545	0.36758	.	.	ENSG00000049249	ENST00000377507	T	0.06687	3.27	4.59	2.63	0.31362	.	0.477271	0.21933	N	0.066988	T	0.06508	0.0167	L	0.38531	1.155	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.37009	-0.9724	9	.	.	.	-7.2801	7.6105	0.28126	0.189:0.6287:0.1823:0.0	.	182	Q07011	TNR9_HUMAN	R	182	ENSP00000366729:G182R	.	G	-	1	0	TNFRSF9	7917660	0.001000	0.12720	0.001000	0.08648	0.399000	0.30720	0.600000	0.24104	0.619000	0.30197	0.455000	0.32223	GGA	-	NULL		0.537	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF9	protein_coding	OTTHUMT00000003622.1	C		-	Missense_Mutation	7995073	-1	no_errors	ENST00000377507	ensembl	human	known	74_37	missense	SNP	0.003	T	T	7995073	C	T	7995073	5	4	58	1	0	0	0	0	0	0	1	0	16307	695	24	2	235	2	TNFRSF9	1	7995073	Splice_Site	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		7995073	241255548	1	3202											
VPS13D	55187	genome.wustl.edu	37	chr1	12335915	12335915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtagggatgggtcagCatctgaagagacccagttta	13	6	2	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr1:12335915C>A	ENST00000358136.3	+	19	2400	c.2270C>A	c.(2269-2271)gCa>gAa	p.A757E	VPS13D_ENST00000356315.4_Missense_Mutation_p.A757E	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)		GATGGGTCAGCATCTGAAGAG	0.443											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000048707						83	85	84					1																	12335915		2203	4300	6503	VPS13D	SO:0001583	missense	0			-	HGNC	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.2270C>A	1.37:g.12335915C>A	ENSP00000350854:p.Ala757Glu	Somatic	0	42	0	679	0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A757E	ENST00000358136.3	37	c.2270	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219030	0.01542	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50277	0.75;0.75	5.8	5.8	0.92144	.	0.405610	0.27126	N	0.020815	T	0.27384	0.0672	N	0.01874	-0.695	0.80722	D	1	B;B	0.22683	0.073;0.02	B;B	0.24394	0.053;0.024	T	0.14896	-1.0456	10	0.27785	T	0.31	.	20.0534	0.97636	0.0:1.0:0.0:0.0	.	757;757	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	757	ENSP00000348666:A757E;ENSP00000350854:A757E	ENSP00000348666:A757E	A	+	2	0	VPS13D	12258502	0.591000	0.26824	0.257000	0.24404	0.032000	0.12392	3.158000	0.50723	2.746000	0.94184	0.650000	0.86243	GCA	-	NULL		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	C	NM_015378	-		12335915	1	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	SNP	0.136	A	A	12335915	C	A	12335915	3	1	58	1	0	0	0	0	1	0	0	0	17199	710	25	3	2340	3	VPS13D	1	12335915	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	4340842	12335915	236914706	2	3203											
GLUL	2752	genome.wustl.edu	37	chr1	182353691	182353691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacagtccggggaatgCgtatgctggcgctacgattg	15	10	0	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr1:182353691C>T	ENST00000331872.6	-	7	1511	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GLUL_ENST00000339526.4_Missense_Mutation_p.R324H|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.R324H|GLUL_ENST00000311223.5_Missense_Mutation_p.R324H	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	324			R -> C (in CSGD; reduced glutamine synthetase activity). {ECO:0000269|PubMed:16267323}.		cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CCGGGGAATGCGTATGCTGGC	0.552																																																	0								ENSG00000135821						101	91	95					1																	182353691		2203	4300	6503	GLUL	SO:0001583	missense	0			-	HGNC	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.971G>A	1.37:g.182353691C>T	ENSP00000356537:p.Arg324His	Somatic	0	32	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP							pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.R324H	ENST00000331872.6	37	c.971	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560314	0.86335	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	5.34	5.34	0.76211	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	H	0.98351	4.21	0.80722	D	1	P	0.37466	0.596	B	0.34180	0.177	D	0.97664	1.0162	10	0.87932	D	0	-19.7213	17.5747	0.87946	0.0:1.0:0.0:0.0	.	324	P15104	GLNA_HUMAN	H	324	ENSP00000356537:R324H;ENSP00000307900:R324H;ENSP00000398320:R324H;ENSP00000344958:R324H	ENSP00000307900:R324H	R	-	2	0	GLUL	180620314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.309000	0.78937	2.488000	0.83962	0.563000	0.77884	CGC	-	pfam_Gln_synth_cat_dom		0.552	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	protein_coding	OTTHUMT00000091043.1	C	NM_002065	-		182353691	-1	no_errors	ENST00000311223	ensembl	human	known	74_37	missense	SNP	1.000	T	T	182353691	C	T	182353691	3	4	58	1	0	0	0	0	1	0	0	0	6480	768	27	1	154	1	GLUL	1	182353691	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	170017776	182353691	66896930	3	3204											
C2orf51	200523	genome.wustl.edu	37	chr2	88828633	88828633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatccctaaccccaacCccaagctaacagatgggtac	7	17	0	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr2:88828633C>T	ENST00000303254.3	+	4	326	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	62						nucleus (GO:0005634)											TAACCCCAACCCCAAGCTAAC	0.532																																																	0								ENSG00000172073						94	89	91					2																	88828633		2203	4300	6503	TEX37	SO:0001583	missense	0			-	HGNC	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.184C>T	2.37:g.88828633C>T	ENSP00000307142:p.Pro62Ser	Somatic	0	38	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	34.78		Missense_Mutation	SNP							NULL	p.P62S	ENST00000303254.3	37	c.184	CCDS2003.1	2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839903	0.51057	.	.	ENSG00000172073	ENST00000303254	T	0.59224	0.28	4.61	3.73	0.42828	.	0.000000	0.47852	D	0.000205	T	0.61590	0.2359	L	0.36672	1.1	0.35693	D	0.815038	D	0.69078	0.997	D	0.69307	0.963	T	0.68969	-0.5269	10	0.87932	D	0	-23.0829	7.9692	0.30117	0.0:0.8915:0.0:0.1085	.	62	Q96LM6	TSC21_HUMAN	S	62	ENSP00000307142:P62S	ENSP00000307142:P62S	P	+	1	0	C2orf51	88609748	0.927000	0.31430	1.000000	0.80357	0.380000	0.30137	1.788000	0.38714	2.561000	0.86390	0.462000	0.41574	CCC	-	NULL		0.532	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX37	protein_coding	OTTHUMT00000252682.1	C	NM_152670	-		88828633	1	no_errors	ENST00000303254	ensembl	human	known	74_37	missense	SNP	0.987	T	T	88828633	C	T	88828633	3	4	58	1	0	0	0	0	1	0	0	0	2175	623	22	2	194	2	C2orf51	2	88828633	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		88828633	154370740	4	3205											
LONRF2	164832	genome.wustl.edu	37	chr2	100910718	100910718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcagataaacacatgCcaaaccgcttggtgccagtt	9	12	1	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr2:100910718C>T	ENST00000393437.3	-	9	2369	c.1730G>A	c.(1729-1731)gGc>gAc	p.G577D	LONRF2_ENST00000409647.1_Missense_Mutation_p.G334D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	577	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAAACACATGCCAAACCGCTT	0.493																																																	0								ENSG00000170500						111	95	101					2																	100910718		2203	4300	6503	LONRF2	SO:0001583	missense	0			-	HGNC	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1730G>A	2.37:g.100910718C>T	ENSP00000377086:p.Gly577Asp	Somatic	0	49	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B9A006|Q6ZSR4	Missense_Mutation	SNP							pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.G577D	ENST00000393437.3	37	c.1730	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845807	0.51164	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.55760	0.5;0.5	4.08	3.16	0.36331	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.053608	0.85682	D	0.000000	T	0.79429	0.4444	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85055	0.0931	10	0.87932	D	0	-4.8041	13.6772	0.62460	0.0:0.8436:0.1564:0.0	.	577	Q1L5Z9	LONF2_HUMAN	D	577;334	ENSP00000377086:G577D;ENSP00000386823:G334D	ENSP00000377086:G577D	G	-	2	0	LONRF2	100277150	1.000000	0.71417	0.397000	0.26308	0.028000	0.11728	5.186000	0.65082	0.771000	0.33359	0.655000	0.94253	GGC	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.493	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	protein_coding	OTTHUMT00000253161.2	C	NM_198461	-		100910718	-1	no_errors	ENST00000393437	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100910718	C	T	100910718	3	4	58	1	0	0	0	0	1	0	0	0	8897	739	26	2	550	2	LONRF2	2	100910718	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	12082085	100910718	142288655	5	3206											
MGAT5	4249	genome.wustl.edu	37	chr2	135206251	135206251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccaaagctcagagctgGccaaggacatcctggtgccc	11	15	1	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr2:135206251G>A	ENST00000409645.1	+	17	2311	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T	MGAT5_ENST00000281923.2_Missense_Mutation_p.A687T			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	687					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CTCAGAGCTGGCCAAGGACAT	0.557																																																	0								ENSG00000152127						212	206	208					2																	135206251		2203	4300	6503	MGAT5	SO:0001583	missense	0			-	HGNC	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2059G>A	2.37:g.135206251G>A	ENSP00000386377:p.Ala687Thr	Somatic	0	40	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D3DP70	Missense_Mutation	SNP							NULL	p.A687T	ENST00000409645.1	37	c.2059	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510601	0.27036	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	4.18	0.49190	.	0.251585	0.46442	D	0.000292	T	0.47078	0.1426	L	0.40543	1.245	0.42845	D	0.994068	B	0.28291	0.206	B	0.25291	0.059	T	0.37526	-0.9702	9	0.20519	T	0.43	-4.8993	14.7381	0.69430	0.0:0.0:0.8495:0.1504	.	687	Q09328	MGT5A_HUMAN	T	687	.	ENSP00000281923:A687T	A	+	1	0	MGAT5	134922721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.551000	0.53698	1.215000	0.43411	0.655000	0.94253	GCC	-	NULL		0.557	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	protein_coding	OTTHUMT00000254584.3	G	NM_002410	-		135206251	1	no_errors	ENST00000281923	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135206251	G	A	135206251	3	1	58	1	0	0	0	0	1	0	0	0	9550	1203	42	2	2121	2	MGAT5	2	135206251	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	34295533	135206251	107993122	6	3207											
BSN	8927	genome.wustl.edu	37	chr3	49698842	49698842	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcagtgagcagcggCtatgagcagggcaaggtccc	16	12	0	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr3:49698842C>A	ENST00000296452.4	+	6	9678	c.9564C>A	c.(9562-9564)ggC>ggA	p.G3188G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3188					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)		TGAGCAGCGGCTATGAGCAGG	0.622																																																	0								ENSG00000164061						67	62	64					3																	49698842		2203	4300	6503	BSN	SO:0001819	synonymous_variant	0			-	HGNC	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.9564C>A	3.37:g.49698842C>A		Somatic	0	40	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	O43161|Q7LGH3	Silent	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.G3188	ENST00000296452.4	37	c.9564	CCDS2800.1	3																																																																																			-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	C	NM_003458	-		49698842	1	no_errors	ENST00000296452	ensembl	human	known	74_37	silent	SNP	1.000	A	A	49698842	C	A	49698842	2	1	58	1	0	0	0	0	0	0	0	1	1532	784	28	3		3	BSN	3	49698842	Silent	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		49698842	148323588	7	3208											
SLC25A36	55186	genome.wustl.edu	37	chr3	140695202	140695207	+	In_Frame_Del	DEL	TCGTGG	TCGTGG	-													gaaggttatgggtctctttaTcgtggtctgacaactcatct					rs142389196		TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	TCGTGG	TCGTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr3:140695202_140695207delTCGTGG	ENST00000324194.6	+	7	1011_1016	c.843_848delTCGTGG	c.(841-849)tatcgtggt>tat	p.RG282del	SLC25A36_ENST00000446041.2_In_Frame_Del_p.RG281del|SLC25A36_ENST00000453248.2_In_Frame_Del_p.RG256del			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	282					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGTCTCTTTATCGTGGTCTGACAACT	0.408																																																	0								ENSG00000114120																																			SLC25A36	SO:0001651	inframe_deletion	0				HGNC	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.843_848delTCGTGG	3.37:g.140695202_140695207delTCGTGG	ENSP00000320688:p.Arg282_Gly283del	Somatic					0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	In_Frame_Del	DEL							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.RG282in_frame_del	ENST00000324194.6	37	c.843_848	CCDS46927.1	3																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.408	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	protein_coding	OTTHUMT00000359929.1	TCGTGG	NM_018155			140695207	1	no_errors	ENST00000324194	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:0.993:1.000:1.000	-	-	140695207	TCGTGG	-	140695202	7	5	58	1	0	1	0	1	0	0	0	0	14508	1442	50	0	869	0	SLC25A36	3	140695202	In_Frame_Del	DEL	TCGTGG	TCGA-DX-A48K-01A-11D-A307-09	90996360	140695202	57327228	8	3209											
C4orf33	132321	genome.wustl.edu	37	chr4	130030691	130030691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgggaaggcaaagcttatCtcccttggagttattttcca	9	8	1	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr4:130030691C>T	ENST00000281146.5	+	5	1079	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	C4orf33_ENST00000425929.1_Missense_Mutation_p.L120F|C4orf33_ENST00000502887.1_Missense_Mutation_p.L120F	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	120										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CAAAGCTTATCTCCCTTGGAG	0.358																																																	0								ENSG00000151470						73	75	74					4																	130030691		2203	4300	6503	C4orf33	SO:0001583	missense	0			-	HGNC	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.358C>T	4.37:g.130030691C>T	ENSP00000281146:p.Leu120Phe	Somatic	0	45	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	27	54.24	D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP							NULL	p.L120F	ENST00000281146.5	37	c.358	CCDS3741.1	4	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881257	0.72294	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929	T;T;T	0.35789	1.29;1.29;1.29	5.61	3.86	0.44501	.	0.201130	0.44902	D	0.000403	T	0.51822	0.1697	M	0.73962	2.25	0.48696	D	0.999695	P;P	0.50369	0.934;0.934	P;P	0.53313	0.609;0.723	T	0.56667	-0.7941	10	0.66056	D	0.02	-42.7824	14.0962	0.65023	0.2735:0.7265:0.0:0.0	.	120;120	D6RIT3;Q8N1A6	.;CD033_HUMAN	F	120	ENSP00000281146:L120F;ENSP00000427406:L120F;ENSP00000401090:L120F	ENSP00000281146:L120F	L	+	1	0	C4orf33	130250141	0.372000	0.25064	0.799000	0.32177	0.936000	0.57629	0.344000	0.19962	0.689000	0.31550	0.655000	0.94253	CTC	-	NULL		0.358	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf33	protein_coding	OTTHUMT00000257177.2	C	NM_173487	-		130030691	1	no_errors	ENST00000281146	ensembl	human	known	74_37	missense	SNP	0.981	T	T	130030691	C	T	130030691	3	4	58	1	0	0	0	0	1	0	0	0	2265	913	32	2	372	2	C4orf33	4	130030691	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		130030691	61123585	9	3210											
TLR2	7097	genome.wustl.edu	37	chr4	154626356	154626356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctacctggagtggcccaTggacgaggctcagcgggaag	16	11	1	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr4:154626356T>C	ENST00000260010.6	+	1	3705	c.2297T>C	c.(2296-2298)aTg>aCg	p.M766T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	766	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GAGTGGCCCATGGACGAGGCT	0.478																																																	0								ENSG00000137462						68	72	71					4																	154626356		2201	4300	6501	TLR2	SO:0001583	missense	0			-	HGNC	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2297T>C	4.37:g.154626356T>C	ENSP00000260010:p.Met766Thr	Somatic	0	43	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP							pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.M766T	ENST00000260010.6	37	c.2297	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	T	3.005	-0.205078	0.06180	.	.	ENSG00000137462	ENST00000260010	T	0.20598	2.06	5.63	-6.7	0.01766	Toll/interleukin-1 receptor homology (TIR) domain (4);	2.979670	0.01204	N	0.007661	T	0.04003	0.0112	N	0.00446	-1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28038	-1.0056	10	0.12766	T	0.61	.	1.6857	0.02841	0.1572:0.2618:0.3076:0.2733	.	766	O60603	TLR2_HUMAN	T	766	ENSP00000260010:M766T	ENSP00000260010:M766T	M	+	2	0	TLR2	154845806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.133000	0.01308	-1.122000	0.02945	-1.064000	0.02280	ATG	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.478	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	protein_coding	OTTHUMT00000365205.1	T		-		154626356	1	no_errors	ENST00000260010	ensembl	human	known	74_37	missense	SNP	0.000	C	C	154626356	T	C	154626356	3	2	58	1	0	0	0	0	1	0	0	0	15958	1464	51	5	2299	5	TLR2	4	154626356	Missense_Mutation	SNP	T	TCGA-DX-A48K-01A-11D-A307-09	24595665	154626356	36527920	10	3211											
SLC12A2	6558	genome.wustl.edu	37	chr5	127419938	127419955	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	GCGGCGGCGGCGGCGGCA	-													ggcgggccgctgctgcggcgGcggcggcggcggcggcagcg					rs181849063|rs560532409	byFrequency	TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	GCGGCGGCGGCGGCGGCA	GCGGCGGCGGCGGCGGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA	ENST00000262461.2	+	1	481_498	c.292_309delGCGGCGGCGGCGGCGGCA	c.(292-309)gcggcggcggcggcggcadel	p.AAAAAA98del	SLC12A2_ENST00000343225.4_In_Frame_Del_p.AAAAAA98del|CTC-228N24.3_ENST00000501702.2_lincRNA	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	98	Ala-rich.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TGCTgcggcggcggcggcggcggcggcagcggcggcgg	0.771																																																	0								ENSG00000064651			17,429		8,1,214						1.7	0.7			1	60,1308		28,4,652	no	coding	SLC12A2	NM_001046.2		36,5,866	A1A1,A1R,RR		4.386,3.8117,4.2448				77,1737				SLC12A2	SO:0001651	inframe_deletion	0				HGNC		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.292_309delGCGGCGGCGGCGGCGGCA	5.37:g.127419938_127419955delGCGGCGGCGGCGGCGGCA	ENSP00000262461:p.Ala98_Ala103del	Somatic					0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8N713|Q8WWH7	In_Frame_Del	DEL							pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.AAAAAA101in_frame_del	ENST00000262461.2	37	c.292_309	CCDS4144.1	5																																																																																			-	NULL		0.771	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	protein_coding	OTTHUMT00000250972.1	GCGGCGGCGGCGGCGGCA	NM_001046			127419955	1	no_errors	ENST00000262461	ensembl	human	known	74_37	in_frame_del	DEL	0.986:0.660:0.322:0.982:0.990:0.982:0.984:0.993:0.986:0.997:0.991:0.966:0.942:0.693:0.010:0.018:0.020:0.019	-	-	127419955	GCGGCGGCGGCGGCGGCA	-	127419938	7	5	58	1	0	1	0	1	0	0	0	0	14391	1203	42	0	294	0	SLC12A2	5	127419938	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	TCGA-DX-A48K-01A-11D-A307-09		127419938	53495322	11	3212											
PCDHA2	56146	genome.wustl.edu	37	chr5	140176057	140176057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgggtgggcgagcgcgCgttgtcgagctacgtttcgg	20	10	0	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr5:140176057C>T	ENST00000526136.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A503V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	503	Cadherin 5. {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.A503V(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCGCGTTGTCGAGC	0.677																																																	2	Substitution - Missense(2)	kidney(2)						ENSG00000204969						57	59	58					5																	140176057		2203	4299	6502	PCDHA2	SO:0001583	missense	0			-	HGNC	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1508C>T	5.37:g.140176057C>T	ENSP00000431748:p.Ala503Val	Somatic	0	163	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	105	27.52	O75287|Q9BTV3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A503V	ENST00000526136.1	37	c.1508	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	16.98	3.272519	0.59649	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.54071	0.66;0.59;0.63	3.88	1.98	0.26296	Cadherin (4);Cadherin-like (1);	0.970408	0.08372	U	0.955891	T	0.51856	0.1699	N	0.20610	0.595	0.09310	N	1	P;P;P	0.52692	0.955;0.869;0.955	P;P;P	0.56398	0.461;0.797;0.461	T	0.46303	-0.9201	10	0.66056	D	0.02	.	9.4268	0.38586	0.0:0.8211:0.0:0.1789	.	503;503;503	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	503	ENSP00000430584:A503V;ENSP00000367372:A503V;ENSP00000431748:A503V	ENSP00000367372:A503V	A	+	2	0	PCDHA2	140156241	0.000000	0.05858	0.963000	0.40424	0.959000	0.62525	0.232000	0.17891	0.219000	0.20840	0.644000	0.83932	GCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	protein_coding	OTTHUMT00000372877.3	C	NM_018905	-		140176057	1	no_errors	ENST00000526136	ensembl	human	known	74_37	missense	SNP	0.132	T	T	140176057	C	T	140176057	3	4	58	1	0	0	0	0	1	0	0	0	11526	768	27	1	1510	1	PCDHA2	5	140176057	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	12756119	140176057	40739203	12	3213											
ZNF391	346157	genome.wustl.edu	37	chr6	27368642	27368642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacactggagagaaacctTatgaatgcaatgaatgtgga	10	7	1	3			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr6:27368642T>C	ENST00000244576.4	+	3	1038	c.493T>C	c.(493-495)Tat>Cat	p.Y165H		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	165					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)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AGAGAAACCTTATGAATGCAA	0.393																																																	0								ENSG00000124613						84	91	89					6																	27368642		2198	4298	6496	ZNF391	SO:0001583	missense	0			-	HGNC	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.493T>C	6.37:g.27368642T>C	ENSP00000244576:p.Tyr165His	Somatic	0	25	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	B4DH77	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y165H	ENST00000244576.4	37	c.493	CCDS43429.1	6	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045665	0.75846	.	.	ENSG00000124613	ENST00000244576	T	0.21734	1.99	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	L	0.28400	0.85	0.25604	N	0.986567	D	0.89917	1.0	D	0.97110	1.0	T	0.06734	-1.0810	9	0.66056	D	0.02	.	10.8976	0.47031	0.0:0.0:0.0:1.0	.	165	Q9UJN7	ZN391_HUMAN	H	165	ENSP00000244576:Y165H	ENSP00000244576:Y165H	Y	+	1	0	ZNF391	27476621	0.305000	0.24481	0.990000	0.47175	0.986000	0.74619	3.892000	0.56235	1.440000	0.47531	0.460000	0.39030	TAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF391	protein_coding	OTTHUMT00000040145.2	T	NM_001076781	-		27368642	1	no_errors	ENST00000244576	ensembl	human	known	74_37	missense	SNP	0.906	C	C	27368642	T	C	27368642	3	2	58	1	0	0	0	0	1	0	0	0	17886	1754	61	5	495	5	ZNF391	6	27368642	Missense_Mutation	SNP	T	TCGA-DX-A48K-01A-11D-A307-09		27368642	143746425	13	3214											
HOXA9	3205	genome.wustl.edu	37	chr7	27204839	27204839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtggtggtacaccgcagCgggtacagcgttggcgcccg	17	11	0	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr7:27204839C>A	ENST00000343483.6	-	1	310	c.238G>T	c.(238-240)Gct>Tct	p.A80S	RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.A80S	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	80				Missing (in Ref. 1; AAB40867). {ECO:0000305}.	endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TACACCGCAGCGGGTACAGCG	0.711			T	"NUP98, MSI2"	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0								ENSG00000078399						9	11	11					7																	27204839		2162	4237	6399	HOXA9	SO:0001583	missense	0			-	HGNC		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.238G>T	7.37:g.27204839C>A	ENSP00000343619:p.Ala80Ser	Somatic	0	27	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	O43369|O43429|Q99820	Missense_Mutation	SNP							pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A80S	ENST00000343483.6	37	c.238	CCDS5409.1	7	.	.	.	.	.	.	.	.	.	.	C	0.450	-0.894079	0.02491	.	.	ENSG00000078399	ENST00000343483;ENST00000396345	D	0.93019	-3.15	5.37	3.57	0.40892	Hox9, N-terminal activation domain (1);	0.166457	0.28865	N	0.013895	D	0.83418	0.5250	N	0.16602	0.42	0.40567	D	0.981269	B	0.09022	0.002	B	0.15052	0.012	T	0.72830	-0.4174	10	0.02654	T	1	.	9.2544	0.37575	0.0:0.7788:0.0:0.2212	.	80	P31269	HXA9_HUMAN	S	80	ENSP00000343619:A80S	ENSP00000343619:A80S	A	-	1	0	HOXA9	27171364	0.779000	0.28652	0.922000	0.36590	0.517000	0.34286	1.075000	0.30716	0.653000	0.30826	-0.291000	0.09656	GCT	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9		0.711	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	protein_coding	OTTHUMT00000358706.2	C		-		27204839	-1	no_errors	ENST00000343483	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27204839	C	A	27204839	3	1	58	1	0	0	0	0	1	0	0	0	7300	768	27	3	588	3	HOXA9	7	27204839	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		27204839	131933824	14	3215											
PTCD1	26024	genome.wustl.edu	37	chr7	99022880	99022880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagggccactgcggtgagGgctgctgtgtggctgggctc	18	10	1	1	rs80070442	byFrequency	TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr7:99022880G>A	ENST00000292478.4	-	6	1525	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A474A|PTCD1_ENST00000555673.1_Silent_p.A474A	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	425					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCGGTGAGGGCTGCTGTGT	0.647																																																	0								ENSG00000248919						101	100	101					7																	99022880		2203	4300	6503	ATP5J2-PTCD1	SO:0001819	synonymous_variant	0			-	HGNC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1275C>T	7.37:g.99022880G>A		Somatic	0	22	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	Q3ZB78|Q66K60|Q9UDV2	Silent	SNP							pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.A474	ENST00000292478.4	37	c.1422	CCDS34691.1	7																																																																																			-	NULL		0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	protein_coding	OTTHUMT00000336391.1	G	NM_015545	-		99022880	-1	no_errors	ENST00000413834	ensembl	human	known	74_37	silent	SNP	0.000	A	A	99022880	G	A	99022880	2	1	58	1	0	0	0	0	0	0	0	1	12732	1219	43	2		2	PTCD1	7	99022880	Silent	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	71818041	99022880	60115783	15	3216											
CFTR	1080	genome.wustl.edu	37	chr7	117292952	117292952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggatccctatgaacagtgGagtgatcaagaaatatggaa	11	5	1	3			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr7:117292952G>T	ENST00000003084.6	+	24	4062	c.3930G>T	c.(3928-3930)tgG>tgT	p.W1310C	CFTR_ENST00000454343.1_Missense_Mutation_p.W1249C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1310	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ATGAACAGTGGAGTGATCAAG	0.323									Cystic Fibrosis																																								0								ENSG00000001626						107	111	109					7																	117292952		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3930G>T	7.37:g.117292952G>T	ENSP00000003084:p.Trp1310Cys	Somatic	0	29	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.W1310C	ENST00000003084.6	37	c.3930	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986331	0.35036	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93811	-3.29;-3.29;-3.29	5.13	4.24	0.50183	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.335476	0.36628	N	0.002483	D	0.86343	0.5910	N	0.05487	-0.04	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.82246	-0.0552	10	0.72032	D	0.01	-1.8944	15.0396	0.71777	0.0:0.0:0.8567:0.1433	.	1310	P13569	CFTR_HUMAN	C	1310;1249;1280	ENSP00000003084:W1310C;ENSP00000403677:W1249C;ENSP00000389119:W1280C	ENSP00000003084:W1310C	W	+	3	0	CFTR	117080188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.846000	0.62860	1.284000	0.44531	0.655000	0.94253	TGG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.323	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	G	NM_000492	-		117292952	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117292952	G	T	117292952	3	4	58	1	0	0	0	0	1	0	0	0	3296	1183	41	3	4024	3	CFTR	7	117292952	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	18270072	117292952	41845711	16	3217											
UNC5D	137970	genome.wustl.edu	37	chr8	35624545	35624545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattcggcagctcaaaggCcatgaacagatcctccaagt	9	12	1	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr8:35624545C>T	ENST00000404895.2	+	15	2767	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	UNC5D_ENST00000420357.1_Silent_p.G746G|UNC5D_ENST00000416672.1_Silent_p.G818G|UNC5D_ENST00000449677.1_Silent_p.G389G|UNC5D_ENST00000453357.2_Silent_p.G808G|UNC5D_ENST00000287272.2_Silent_p.G744G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	813					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCTCAAAGGCCATGAACAGA	0.512																																																	0								ENSG00000156687						141	117	125					8																	35624545		2203	4300	6503	UNC5D	SO:0001819	synonymous_variant	0			-	HGNC	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2439C>T	8.37:g.35624545C>T		Somatic	0	31	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q8WYP7	Silent	SNP							pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G813	ENST00000404895.2	37	c.2439	CCDS6093.2	8																																																																																			-	NULL		0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	protein_coding	OTTHUMT00000347586.2	C		-		35624545	1	no_errors	ENST00000404895	ensembl	human	known	74_37	silent	SNP	1.000	T	T	35624545	C	T	35624545	2	4	58	1	0	0	0	0	0	0	0	1	17002	726	26	2		2	UNC5D	8	35624545	Silent	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		35624545	110739477	17	3218											
RNF183	138065	genome.wustl.edu	37	chr9	116059948	116059948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgagcaacagagtgaCactgaggatgacggccatca	12	8	1	5			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr9:116059948C>T	ENST00000478815.1	-	1	2097	c.517G>A	c.(517-519)Gtc>Atc	p.V173I	RNF183_ENST00000297894.5_Missense_Mutation_p.V173I|RNF183_ENST00000416588.2_Missense_Mutation_p.V173I|RNF183_ENST00000441031.3_Missense_Mutation_p.V173I|RNF183_ENST00000478493.1_5'Flank			Q96D59	RN183_HUMAN	ring finger protein 183	173						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						AACAGAGTGACACTGAGGATG	0.522																																																	0								ENSG00000165188						91	97	95					9																	116059948		2104	4213	6317	RNF183	SO:0001583	missense	0			-	HGNC		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"RING-type (C3HC4) zinc fingers"	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.517G>A	9.37:g.116059948C>T	ENSP00000419454:p.Val173Ile	Somatic	0	33	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78		Missense_Mutation	SNP							smart_Znf_RING,pfscan_Znf_RING	p.V173I	ENST00000478815.1	37	c.517	CCDS43866.1	9	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744958	0.30865	.	.	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.09	3.26	0.37387	.	0.544492	0.17776	N	0.162409	T	0.12817	0.0311	L	0.29908	0.895	0.20307	N	0.999916	B	0.09022	0.002	B	0.06405	0.002	T	0.34129	-0.9841	10	0.08179	T	0.78	-16.8988	9.4541	0.38745	0.0:0.8277:0.0:0.1722	.	173	Q96D59	RN183_HUMAN	I	173	ENSP00000417176:V173I;ENSP00000420740:V173I;ENSP00000419454:V173I;ENSP00000417943:V173I	ENSP00000417943:V173I	V	-	1	0	RNF183	115099769	0.109000	0.22037	0.017000	0.16124	0.531000	0.34715	1.595000	0.36708	0.737000	0.32582	-0.258000	0.10820	GTC	-	NULL		0.522	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF183	protein_coding	OTTHUMT00000356360.1	C	NM_145051	-		116059948	-1	no_errors	ENST00000297894	ensembl	human	known	74_37	missense	SNP	0.261	T	T	116059948	C	T	116059948	3	4	58	1	0	0	0	0	1	0	0	0	13475	478	17	2	65	2	RNF183	9	116059948	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		116059948	25153483	18	3219											
LAMC3	10319	genome.wustl.edu	37	chr9	133901823	133901823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacctacggccggcccgaGggccagtacctgcgccccgg	14	17	0	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr9:133901823G>T	ENST00000361069.4	+	2	658	c.525G>T	c.(523-525)gaG>gaT	p.E175D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	175	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCGGCCCGAGGGCCAGTACC	0.672																																																	0								ENSG00000050555						33	38	36					9																	133901823		2203	4298	6501	LAMC3	SO:0001583	missense	0			-	HGNC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.525G>T	9.37:g.133901823G>T	ENSP00000354360:p.Glu175Asp	Somatic	0	43	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E175D	ENST00000361069.4	37	c.525	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	8.447	0.852171	0.17034	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.74947	-0.89	5.93	4.06	0.47325	Laminin, N-terminal (3);	0.377733	0.30151	N	0.010290	T	0.50326	0.1609	N	0.13098	0.295	0.30535	N	0.767011	B	0.12013	0.005	B	0.20184	0.028	T	0.42599	-0.9442	10	0.06891	T	0.86	.	6.1204	0.20150	0.071:0.1342:0.6558:0.1391	.	175	Q9Y6N6	LAMC3_HUMAN	D	175	ENSP00000354360:E175D	ENSP00000325873:E175D	E	+	3	2	LAMC3	132891644	0.252000	0.23972	1.000000	0.80357	0.009000	0.06853	0.291000	0.18994	0.813000	0.34350	-0.150000	0.13652	GAG	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.672	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	G	NM_006059	-		133901823	1	no_errors	ENST00000361069	ensembl	human	known	74_37	missense	SNP	0.946	T	T	133901823	G	T	133901823	3	4	58	1	0	0	0	0	1	0	0	0	8618	991	35	3	531	3	LAMC3	9	133901823	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	17841875	133901823	7311608	19	3220											
IFIT5	24138	genome.wustl.edu	37	chr10	91177283	91177283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtattatcacatggaccaGcttgaagaagctcagaagta	10	7	2	3			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr10:91177283G>T	ENST00000371795.4	+	2	540	c.327G>T	c.(325-327)caG>caT	p.Q109H	LIPA_ENST00000371837.1_5'Flank|IFIT5_ENST00000416601.1_Missense_Mutation_p.Q109H	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	109					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						ACATGGACCAGCTTGAAGAAG	0.433																																																	0								ENSG00000152778						90	84	86					10																	91177283		2203	4300	6503	IFIT5	SO:0001583	missense	0			-	HGNC	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.327G>T	10.37:g.91177283G>T	ENSP00000360860:p.Gln109His	Somatic	0	49	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP							pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q109H	ENST00000371795.4	37	c.327	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	G	8.551	0.875539	0.17395	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	D;D	0.94497	-3.44;-3.44	6.03	-4.61	0.03380	Tetratricopeptide-like helical (1);	0.553031	0.20872	N	0.084158	D	0.87285	0.6139	L	0.49350	1.555	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.74813	-0.3537	10	0.56958	D	0.05	-0.1317	0.4832	0.00551	0.3576:0.2136:0.1227:0.3061	.	109;109	Q13325;B4DDV1	IFIT5_HUMAN;.	H	109	ENSP00000360860:Q109H;ENSP00000414042:Q109H	ENSP00000360860:Q109H	Q	+	3	2	IFIT5	91167263	0.000000	0.05858	0.000000	0.03702	0.631000	0.37964	-0.303000	0.08210	-0.409000	0.07553	-0.140000	0.14226	CAG	-	NULL		0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	protein_coding	OTTHUMT00000049303.1	G	NM_012420	-		91177283	1	no_errors	ENST00000371795	ensembl	human	known	74_37	missense	SNP	0.000	T	T	91177283	G	T	91177283	3	4	58	1	0	0	0	0	1	0	0	0	7527	962	34	3	333	3	IFIT5	10	91177283	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09		91177283	44357464	20	3221											
SIRT3	23410	genome.wustl.edu	37	chr11	233415	233415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctctggcaggctctgGcccgaatcagctcagctaca	9	17	4	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr11:233415G>A	ENST00000382743.4	-	2	503	c.401C>T	c.(400-402)gCc>gTc	p.A134V	SIRT3_ENST00000532956.1_Missense_Mutation_p.A134V|SIRT3_ENST00000524564.1_Intron|SIRT3_ENST00000529382.1_5'UTR|SIRT3_ENST00000525319.1_Missense_Mutation_p.A53V|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	134	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GCAGGCTCTGGCCCGAATCAG	0.572																																																	0								ENSG00000142082						85	74	78					11																	233415		2203	4300	6503	SIRT3	SO:0001583	missense	0			-	HGNC	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.401C>T	11.37:g.233415G>A	ENSP00000372191:p.Ala134Val	Somatic	0	18	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	B7Z5U6|Q9Y6E8	Missense_Mutation	SNP							pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.A134V	ENST00000382743.4	37	c.401	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081520	0.36758	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000532956	T;T;T	0.23552	2.2;1.9;2.2	4.38	2.47	0.30058	.	1.100240	0.07141	N	0.847264	T	0.24586	0.0596	M	0.62723	1.935	0.09310	N	0.999997	P;B;B;B	0.34864	0.473;0.42;0.184;0.039	B;B;B;B	0.28011	0.085;0.014;0.008;0.003	T	0.24404	-1.0161	10	0.51188	T	0.08	-1.7959	5.9599	0.19293	0.0937:0.0:0.4339:0.4723	.	134;134;53;134	E9PM75;B7Z7G4;E9PK80;Q9NTG7	.;.;.;SIRT3_HUMAN	V	134;53;134	ENSP00000372191:A134V;ENSP00000435464:A53V;ENSP00000433077:A134V	ENSP00000372191:A134V	A	-	2	0	SIRT3	223415	0.053000	0.20554	0.003000	0.11579	0.983000	0.72400	2.437000	0.44828	0.464000	0.27142	0.555000	0.69702	GCC	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom		0.572	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	protein_coding	OTTHUMT00000239288.3	G		-		233415	-1	no_errors	ENST00000382743	ensembl	human	known	74_37	missense	SNP	0.000	A	A	233415	G	A	233415	3	1	58	1	0	0	0	0	1	0	0	0	14347	1203	42	2	822	2	SIRT3	11	233415	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09		233415	134773101	21	3222											
LSP1	4046	genome.wustl.edu	37	chr11	1905554	1905557	+	Splice_Site	DEL	GTCT	GTCT	-													aaccgctccatagagaagagGtctgtctgtctgtctgtctg							TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	GTCT	GTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr11:1905554_1905557delGTCT	ENST00000311604.3	+	6	810		c.e6+1		LSP1_ENST00000405957.2_Splice_Site|LSP1_ENST00000381775.1_Splice_Site|LSP1_ENST00000485341.1_Splice_Site|LSP1_ENST00000406638.2_Splice_Site	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TAGAGAAGAGgtctgtctgtctgt	0.569																																																	0								ENSG00000130592		,,,	3,4255		0,3,2126					,,,	3.1	0.7			63	16,8228		0,16,4106	no	splice-5,splice-5,splice-5,splice-5	LSP1	NM_002339.2,NM_001013255.1,NM_001013254.1,NM_001013253.1	,,,	0,19,6232	A1A1,A1R,RR		0.1941,0.0705,0.152	,,,	,,,		19,12483				LSP1	SO:0001630	splice_region_variant	0				HGNC	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.635+1GTCT>-	11.37:g.1905562_1905565delGTCT		Somatic	0	53	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Splice_Site	DEL							-	e6+1	ENST00000311604.3	37	c.635+1_635+1	CCDS31334.1	11																																																																																			-	-		0.569	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	protein_coding	OTTHUMT00000034045.3	GTCT	NM_002339		Intron	1905557	1	no_errors	ENST00000311604	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.959:0.063:0.057	-	-	1905557	GTCT	-	1905554	8	5	58	1	0	1	0	1	0	0	1	0	9065	1275	44	0	658	0	LSP1	11	1905554	Splice_Site	DEL	GTCT	TCGA-DX-A48K-01A-11D-A307-09	1672139	1905554	133100962	22	3223											
OPCML	4978	genome.wustl.edu	37	chr11	132307146	132307146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttttactttccgcacatCgggcgcagcgacatcgttca	9	12	1	0	rs372641813		TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr11:132307146C>T	ENST00000331898.7	-	4	1212	c.634G>A	c.(634-636)Gat>Aat	p.D212N	OPCML_ENST00000524381.1_Missense_Mutation_p.D205N|OPCML_ENST00000374778.4_Missense_Mutation_p.D171N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.D212N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	212	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTCCGCACATCGGGCGCAGCG	0.537																																																	0								ENSG00000183715	C	ASN/ASP,ASN/ASP	0,4402		0,0,2201	128	114	119		613,634	5.9	0.8	11		119	1,8593		0,1,4296	no	missense,missense	OPCML	NM_001012393.1,NM_002545.3	23,23	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	205/339,212/346	132307146	1,12995	2201	4297	6498	OPCML	SO:0001583	missense	0			-	HGNC	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.634G>A	11.37:g.132307146C>T	ENSP00000330862:p.Asp212Asn	Somatic	0	47	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D212N	ENST00000331898.7	37	c.634	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558459	0.86231	0.0	1.16E-4	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.58940	0.32;0.3;1.14;1.14	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.996	T	0.80754	-0.1241	10	0.66056	D	0.02	-20.0948	19.9958	0.97383	0.0:1.0:0.0:0.0	.	212;205;211;212	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	N	212;205;171;179;212	ENSP00000330862:D212N;ENSP00000434750:D205N;ENSP00000363910:D171N;ENSP00000445496:D212N	ENSP00000330862:D212N	D	-	1	0	OPCML	131812356	1.000000	0.71417	0.803000	0.32268	0.233000	0.25261	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	GAT	-	smart_Ig_sub,pfscan_Ig-like_dom		0.537	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	protein_coding	OTTHUMT00000374689.3	C	NM_001012393	-		132307146	-1	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132307146	C	T	132307146	3	4	58	1	0	0	0	0	1	0	0	0	10876	884	31	1	419	1	OPCML	11	132307146	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	130401592	132307146	2699370	23	3224											
PLEKHA9	51054	genome.wustl.edu	37	chr12	45567092	45567092	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcctttacggttaacgCggccacaaaatcttcatagg	7	12	2	0	rs145353585	byFrequency	TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr12:45567092C>T	ENST00000256692.5	-	0	1593					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGGTTAACGCGGCCACAAAA	0.502																																																	0								ENSG00000134297	C		1,4405	2.1+/-5.4	0,1,2202	103	97	99			-0.7	0	12	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154			45567092	2,13004	2203	4300	6503	PLEKHA8P1			0			-	HGNC	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567092C>T		Somatic	0	78	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	83	13.54		RNA	SNP							-	NULL	ENST00000256692.5	37	NULL		12																																																																																			-	-		0.502	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	pseudogene	OTTHUMT00000404814.1	C	NR_037144	rs145353585		45567092	-1	no_errors	ENST00000256692	ensembl	human	known	74_37	rna	SNP	0.989	T	T	45567092	C	T	45567092	1	4	58	0	1	0	0	0	0	0	0	0	12065	768	27	1		1	PLEKHA9	12	45567092	RNA	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		45567092	88284803	24	3225											
ARID2	196528	genome.wustl.edu	37	chr12	46123649	46123649	+	Frame_Shift_Del	DEL	G	G	-													tcgacggggaaggcgcctccGgacgagcggagaaagggact							TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr12:46123649delG	ENST00000334344.6	+	1	202	c.30delG	c.(28-30)ccgfs	p.P10fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	10					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)			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)		AGGCGCCTCCGGACGAGCGGA	0.602			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0								ENSG00000189079						16	21	19					12																	46123649		2188	4296	6484	ARID2	SO:0001589	frameshift_variant	0				HGNC		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.30delG	12.37:g.46123649delG	ENSP00000335044:p.Pro10fs	Somatic	0	26	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL							pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D11fs	ENST00000334344.6	37	c.30	CCDS31783.1	12																																																																																			-	NULL		0.602	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	G	XM_350875			46123649	1	no_errors	ENST00000334344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	46123649	G	-	46123649	7	5	58	1	0	1	0	1	0	0	0	0	915	1103	39	0	32	0	ARID2	12	46123649	Frame_Shift_Del	DEL	G	TCGA-DX-A48K-01A-11D-A307-09	556557	46123649	87728246	25	3226											
MCRS1	10445	genome.wustl.edu	37	chr12	49960203	49960203	+	Intron	DEL	C	C	-													accttccacgctgggcagttCccccggtgccacgtgtcatg							TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr12:49960203delC	ENST00000550165.1	-	4	277				MCRS1_ENST00000343810.4_Intron|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.G7fs|MCRS1_ENST00000546244.1_Intron			Q96EZ8	MCRS1_HUMAN	microspherule protein 1						cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CTGGGCAGTTCCCCCGGTGCC	0.597																																																	0								ENSG00000187778						31	28	29					12																	49960203		2201	4297	6498	MCRS1	SO:0001627	intron_variant	0				HGNC	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.11-205G>-	12.37:g.49960203delC		Somatic	0	36	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	O14742|O75497|Q6VN53|Q7Z372	Frame_Shift_Del	DEL							pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.G7fs	ENST00000550165.1	37	c.20	CCDS8787.1	12																																																																																			-	NULL		0.597	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	protein_coding	OTTHUMT00000405102.1	C	NM_006337			49960203	-1	no_errors	ENST00000357123	ensembl	human	known	74_37	frame_shift_del	DEL	0.965	-	-	49960203	C	-	49960203	6	5	58	0	1	1	0	1	0	0	0	0	9401	855	30	0		0	MCRS1	12	49960203	Intron	DEL	C	TCGA-DX-A48K-01A-11D-A307-09	3836554	49960203	83891692	26	3227											
EP400	57634	genome.wustl.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				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)	p.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597																																																	2	Substitution - coding silent(2)	kidney(2)						ENSG00000183495						52	42	46					12																	132547141		2203	4300	6503	EP400	SO:0001819	synonymous_variant	0			-	HGNC	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.8337G>A	12.37:g.132547141G>A		Somatic	0	22	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2779	ENST00000333577.4	37	c.8337		12																																																																																			-	NULL		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409	-		132547141	1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	SNP	0.737	A	A	132547141	G	A	132547141	2	1	58	1	0	0	0	0	0	0	0	1	5151	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	82586938	132547141	1304754	27	3228											
MYH7	4625	genome.wustl.edu	37	chr14	23884643	23884645	+	In_Frame_Del	DEL	CCT	CCT	-													attcctgcactcctgcactgCctcctccacttcagtctgga					rs149509691		TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr14:23884643_23884645delCCT	ENST00000355349.3	-	36	5390_5392	c.5228_5230delAGG	c.(5227-5232)gaggca>gca	p.E1743del	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1743					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTGCACTGCCTCCTCCACTTC	0.586																																																	0								ENSG00000092054																																			MYH7	SO:0001651	inframe_deletion	0				HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5228_5230delAGG	14.37:g.23884646_23884648delCCT	ENSP00000347507:p.Glu1743del	Somatic	0	55	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	In_Frame_Del	DEL							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1743in_frame_del	ENST00000355349.3	37	c.5230_5228	CCDS9601.1	14																																																																																			-	pfam_Myosin_tail		0.586	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	CCT	NM_000257			23884645	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	in_frame_del	DEL	1.000:0.995:1.000	-	-	23884645	CCT	-	23884643	7	5	58	1	0	1	0	1	0	0	0	0	10041	739	26	0	597	0	MYH7	14	23884643	In_Frame_Del	DEL	CCT	TCGA-DX-A48K-01A-11D-A307-09		23884643	83464897	28	3229											
PSMC6	5706	genome.wustl.edu	37	chr14	53187633	53187633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagagttaaaatgatcatgGctacaaacagaccagataca	7	7	1	4			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr14:53187633G>T	ENST00000606149.1	+	11	848	c.832G>T	c.(832-834)Gct>Tct	p.A278S	PSMC6_ENST00000445930.2_Missense_Mutation_p.A292S	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	278					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AATGATCATGGCTACAAACAG	0.338																																																	0								ENSG00000100519						69	71	70					14																	53187633		2203	4300	6503	PSMC6	SO:0001583	missense	0			-	HGNC		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.832G>T	14.37:g.53187633G>T	ENSP00000475721:p.Ala278Ser	Somatic	0	46	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.A292S	ENST00000606149.1	37	c.874		14	.	.	.	.	.	.	.	.	.	.	G	32	5.175168	0.94807	.	.	ENSG00000100519	ENST00000445930	D	0.95724	-3.79	4.93	4.93	0.64822	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.048245	0.85682	D	0.000000	D	0.97570	0.9204	M	0.78344	2.41	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	D	0.98362	1.0549	10	0.87932	D	0	.	18.4944	0.90860	0.0:0.0:1.0:0.0	.	278	P62333	PRS10_HUMAN	S	292	ENSP00000401802:A292S	ENSP00000401802:A292S	A	+	1	0	PSMC6	52257383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	2.420000	0.82092	0.585000	0.79938	GCT	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.338	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	PSMC6	protein_coding	OTTHUMT00000470741.1	G	NM_002806	-		53187633	1	no_errors	ENST00000445930	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53187633	G	T	53187633	3	4	58	1	0	0	0	0	1	0	0	0	12696	1203	42	3	916	3	PSMC6	14	53187633	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	29302990	53187633	54161907	29	3230											
SIX4	51804	genome.wustl.edu	37	chr14	61180142	61180142	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttcataagtcttgcatatCttcatccagctggacagtct	7	10	5	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr14:61180142C>A	ENST00000216513.4	-	3	2388	c.2329G>T	c.(2329-2331)Gat>Tat	p.D777Y		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	777					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TCTTGCATATCTTCATCCAGC	0.423																																																	0								ENSG00000100625						100	91	94					14																	61180142		2203	4300	6503	SIX4	SO:0001583	missense	0			-	HGNC	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2329G>T	14.37:g.61180142C>A	ENSP00000216513:p.Asp777Tyr	Somatic	0	34	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q4QQH5|Q4V764	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D777Y	ENST00000216513.4	37	c.2329	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945757	0.73672	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.94138	-3.36;0.41	5.63	5.63	0.86233	.	0.123434	0.52532	D	0.000068	D	0.93736	0.7998	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	D	0.94626	0.7817	10	0.87932	D	0	.	20.0396	0.97574	0.0:1.0:0.0:0.0	.	777	Q9UIU6	SIX4_HUMAN	Y	777;450	ENSP00000216513:D777Y;ENSP00000451537:D450Y	ENSP00000216513:D777Y	D	-	1	0	SIX4	60249895	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.221000	0.78016	2.814000	0.96858	0.563000	0.77884	GAT	-	NULL		0.423	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	C		-		61180142	-1	no_errors	ENST00000216513	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61180142	C	A	61180142	3	1	58	1	0	0	0	0	1	0	0	0	14357	913	32	3	20	3	SIX4	14	61180142	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	7992509	61180142	46169398	30	3231											
DUOXA2	405753	genome.wustl.edu	37	chr15	45409411	45409411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggggtcttcgccttggcctCcatctctagcgtgccgctct	11	16	3	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr15:45409411C>T	ENST00000323030.5	+	5	962	c.677C>T	c.(676-678)tCc>tTc	p.S226F	DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	226					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)		GCCTTGGCCTCCATCTCTAGC	0.692																																																	0								ENSG00000140274						19	21	20					15																	45409411		2053	4193	6246	DUOXA2	SO:0001583	missense	0			-	HGNC	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.677C>T	15.37:g.45409411C>T	ENSP00000319705:p.Ser226Phe	Somatic	0	25	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	B2RPI9|H0YNQ6	Missense_Mutation	SNP							pfam_Dual_oxidase_maturation_fac	p.S226F	ENST00000323030.5	37	c.677	CCDS10118.2	15	.	.	.	.	.	.	.	.	.	.	c	11.53	1.666706	0.29604	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.56103	0.48	4.9	4.9	0.64082	.	0.364671	0.29537	N	0.011864	T	0.60805	0.2297	L	0.52011	1.625	0.41562	D	0.988635	D	0.53462	0.96	P	0.54965	0.765	T	0.61163	-0.7118	10	0.41790	T	0.15	-15.5902	15.57	0.76326	0.0:1.0:0.0:0.0	.	226	Q1HG44	DOXA2_HUMAN	F	226;181	ENSP00000319705:S226F	ENSP00000319705:S226F	S	+	2	0	DUOXA2	43196703	0.377000	0.25106	1.000000	0.80357	0.225000	0.24961	3.046000	0.49846	2.276000	0.75962	0.506000	0.49869	TCC	-	pfam_Dual_oxidase_maturation_fac		0.692	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUOXA2	protein_coding	OTTHUMT00000254142.1	C	NM_207581	-		45409411	1	no_errors	ENST00000323030	ensembl	human	known	74_37	missense	SNP	0.995	T	T	45409411	C	T	45409411	3	4	58	1	0	0	0	0	1	0	0	0	4805	855	30	2	695	2	DUOXA2	15	45409411	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		45409411	57121981	31	3232											
MFGE8	4240	genome.wustl.edu	37	chr15	89442651	89442651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccagcagctccaggcgcAgggcgatgcggttgtgccag	16	13	0	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr15:89442651A>G	ENST00000566497.1	-	8	1200	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P	MFGE8_ENST00000539437.1_Missense_Mutation_p.L372P|MFGE8_ENST00000268150.8_Missense_Mutation_p.L380P|MFGE8_ENST00000542878.1_Missense_Mutation_p.L336P|MFGE8_ENST00000268151.7_Missense_Mutation_p.L328P			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	380	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTCCAGGCGCAGGGCGATGCG	0.602																																																	0								ENSG00000140545						117	105	109					15																	89442651		2200	4299	6499	MFGE8	SO:0001583	missense	0			-	HGNC	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.1139T>C	15.37:g.89442651A>G	ENSP00000456281:p.Leu380Pro	Somatic	0	66	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L380P	ENST00000566497.1	37	c.1139	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465757	0.84425	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.88	4.88	0.63580	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.074974	0.53938	D	0.000041	D	0.95284	0.8470	H	0.98466	4.24	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	D	0.96739	0.9545	10	0.87932	D	0	-12.8829	13.3576	0.60638	1.0:0.0:0.0:0.0	.	372;336;372;328;380	B3KTQ2;F5GZN3;F5H7N9;Q08431-3;Q08431	.;.;.;.;MFGM_HUMAN	P	380;328;372;336	ENSP00000268150:L380P;ENSP00000268151:L328P;ENSP00000442386:L372P;ENSP00000444332:L336P	ENSP00000268150:L380P	L	-	2	0	MFGE8	87243655	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.146000	0.94640	1.843000	0.53566	0.454000	0.30748	CTG	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.602	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	protein_coding	OTTHUMT00000432804.1	A	NM_005928	-		89442651	-1	no_errors	ENST00000268150	ensembl	human	known	74_37	missense	SNP	1.000	G	G	89442651	A	G	89442651	3	3	58	1	0	0	0	0	1	0	0	0	9522	188	7	5	28	5	MFGE8	15	89442651	Missense_Mutation	SNP	A	TCGA-DX-A48K-01A-11D-A307-09	44033240	89442651	13088741	32	3233											
TRIM16	10626	genome.wustl.edu	37	chr17	15554817	15554817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcttccactgggctggctGacccagaatctgggctgggt	13	12	2	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr17:15554817G>A	ENST00000578237.1	-	6	962	c.107C>T	c.(106-108)tCa>tTa	p.S36L	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.S36L|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.S36L|RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000416464.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	36					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGGGCTGGCTGACCCAGAATC	0.642																																																	0								ENSG00000221926						74	79	77					17																	15554817		2203	4300	6503	TRIM16	SO:0001583	missense	0			-	HGNC	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.107C>T	17.37:g.15554817G>A	ENSP00000463188:p.Ser36Leu	Somatic	0	29	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	63	12.50	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.S36L	ENST00000578237.1	37	c.107	CCDS11171.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.419|7.419	0.636415|0.636415	0.14386|0.14386	.|.	.|.	ENSG00000251537|ENSG00000221926	ENST00000455584|ENST00000336708	.|T	.|0.64618	.|-0.11	0.137|0.137	0.137|0.137	0.14787|0.14787	.|.	.|7.084450	.|0.01642	.|U	.|0.024100	.|T	.|0.66005	.|0.2746	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;P	.|0.48350	.|0.437;0.909	.|B;P	.|0.48704	.|0.098;0.587	.|T	.|0.53092	.|-0.8487	.|9	.|0.62326	.|D	.|0.03	.|.	.|.	.|.	.|.	.|.	.|36;50	.|O95361;Q59EB2	.|TRI16_HUMAN;.	X|L	51|36	.|ENSP00000338989:S36L	.|ENSP00000338989:S36L	Q|S	-|-	1|2	0|0	RP11-385D13.1|TRIM16	15495542|15495542	0.008000|0.008000	0.16893|0.16893	0.052000|0.052000	0.19188|0.19188	0.072000|0.072000	0.16883|0.16883	0.310000|0.310000	0.19356|0.19356	0.291000|0.291000	0.22468|0.22468	0.297000|0.297000	0.19635|0.19635	CAG|TCA	-	NULL		0.642	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	protein_coding	OTTHUMT00000130700.2	G	NM_006470	-		15554817	-1	no_errors	ENST00000336708	ensembl	human	known	74_37	missense	SNP	0.049	A	A	15554817	G	A	15554817	3	1	58	1	0	0	0	0	1	0	0	0	16498	1294	45	2	1611	2	TRIM16	17	15554817	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09		15554817	65640393	33	3234											
MAP3K14	100133991	genome.wustl.edu	37	chr17	43347872	43347872	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcttggatggcctggGctgtgagaggggcgcaggag	19	10	1	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr17:43347872G>T	ENST00000585780.1	+	0	4950				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					MAP3K14 antisense RNA 1																		GATGGCCTGGGCTGTGAGAGG	0.637																																																	0								ENSG00000006062						34	39	38					17																	43347872		1971	4153	6124	MAP3K14			0			-	HGNC	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43347872G>T		Somatic	0	52	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		RNA	SNP							-	NULL	ENST00000585780.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044594	0.36085	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.46	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.448580	0.25572	N	0.029741	T	0.40119	0.1104	N	0.16307	0.4	0.35082	D	0.763520	P;P	0.52316	0.845;0.952	P;P	0.52424	0.48;0.698	T	0.51934	-0.8642	8	0.33940	T	0.23	.	9.3324	0.38030	0.0771:0.1441:0.7788:0.0	.	627;157	Q99558;Q6ZMZ1	M3K14_HUMAN;.	D	626	.	ENSP00000342059:A626D	A	-	2	0	MAP3K14	40703655	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	3.632000	0.54287	1.271000	0.44313	0.561000	0.74099	GCC	-	-		0.637	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	antisense	OTTHUMT00000450941.1	G	NR_024434	-		43347872	-1	no_errors	ENST00000344686	ensembl	human	known	74_37	rna	SNP	0.986	T	T	43347872	G	T	43347872	1	4	58	0	1	0	0	0	0	0	0	0	9250	1203	42	3		3	MAP3K14	17	43347872	RNA	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	27793055	43347872	37847338	34	3235											
PYCR1	5831	genome.wustl.edu	37	chr17	79894067	79894067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttgtgggcagccaagaCgcctgaggggagaaacagtt	14	8	1	3			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr17:79894067C>T	ENST00000329875.8	-	2	134	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	PYCR1_ENST00000402252.2_Missense_Mutation_p.V51I|PYCR1_ENST00000337943.5_Missense_Mutation_p.V24I|PYCR1_ENST00000403172.4_Missense_Mutation_p.V24I|PYCR1_ENST00000577756.1_Missense_Mutation_p.V24I	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	24					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GCAGCCAAGACGCCTGAGGGG	0.507																																																	0								ENSG00000183010						94	90	91					17																	79894067		2203	4300	6503	PYCR1	SO:0001583	missense	0			-	HGNC		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.70G>A	17.37:g.79894067C>T	ENSP00000328858:p.Val24Ile	Somatic	0	49	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP							pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.V24I	ENST00000329875.8	37	c.70	CCDS11795.1	17	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392175	0.25118	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	4.25	-6.83	0.01693	NAD(P)-binding domain (1);	0.389040	0.25932	N	0.027364	T	0.40522	0.1120	L	0.31371	0.925	0.23950	N	0.996372	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.18561	0.002;0.001;0.022;0.001;0.0;0.001	T	0.36504	-0.9745	10	0.10111	T	0.7	-4.8113	14.7019	0.69162	0.0:0.6743:0.0:0.3257	.	51;24;24;24;24;24	B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;P5CR1_HUMAN;.;.	I	24;24;24;51;24	ENSP00000336579:V24I;ENSP00000328858:V24I;ENSP00000385483:V24I;ENSP00000384949:V51I;ENSP00000386002:V24I	ENSP00000328858:V24I	V	-	1	0	PYCR1	77487358	0.000000	0.05858	0.004000	0.12327	0.147000	0.21601	-0.463000	0.06696	-1.240000	0.02529	-1.267000	0.01435	GTC	-	pfam_G3P_DH_NAD-dep_N,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase		0.507	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	protein_coding	OTTHUMT00000441953.1	C		-		79894067	-1	no_errors	ENST00000329875	ensembl	human	known	74_37	missense	SNP	0.039	T	T	79894067	C	T	79894067	3	4	58	1	0	0	0	0	1	0	0	0	12863	536	19	1	1001	1	PYCR1	17	79894067	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09	36546195	79894067	1301143	35	3236											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560730	44560730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcctcttctggtgactGtctggagcctcctccaaggc	12	13	3	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr18:44560730G>T	ENST00000332567.4	-	1	1258	c.906C>A	c.(904-906)gaC>gaA	p.D302E	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	302					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						TCTGGTGACTGTCTGGAGCCT	0.632																																																	0								ENSG00000206181						108	113	111					18																	44560730		2203	4300	6503	TCEB3B	SO:0001583	missense	0			-	HGNC	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.906C>A	18.37:g.44560730G>T	ENSP00000331302:p.Asp302Glu	Somatic	0	40	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q9P2V9	Missense_Mutation	SNP							pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.D302E	ENST00000332567.4	37	c.906	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588466	0.28357	.	.	ENSG00000206181	ENST00000332567	T	0.06768	3.26	2.09	1.21	0.21127	.	1.176810	0.06948	U	0.814085	T	0.05868	0.0153	L	0.29908	0.895	0.09310	N	1	P	0.41232	0.743	B	0.38056	0.264	T	0.36962	-0.9726	10	0.18276	T	0.48	.	4.6028	0.12361	0.1919:0.0:0.8081:0.0	.	302	Q8IYF1	ELOA2_HUMAN	E	302	ENSP00000331302:D302E	ENSP00000331302:D302E	D	-	3	2	TCEB3B	42814728	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.659000	0.24994	0.462000	0.27095	0.462000	0.41574	GAC	-	NULL		0.632	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	G	NM_016427	-		44560730	-1	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	SNP	0.000	T	T	44560730	G	T	44560730	3	4	58	1	0	0	0	0	1	0	0	0	15689	1368	48	3	1359	3	TCEB3B	18	44560730	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09		44560730	33516518	36	3237											
HCN2	610	genome.wustl.edu	37	chr19	613914	613914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgacacctactgccgcCtctattcgctgagcgtggac	12	14	1	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr19:613914C>A	ENST00000251287.2	+	7	1941	c.1888C>A	c.(1888-1890)Ctc>Atc	p.L630I	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	630					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CTACTGCCGCCTCTATTCGCT	0.687																																					Melanoma(145;1175 2427 8056 36306)												0								ENSG00000099822						39	37	38					19																	613914		2199	4297	6496	HCN2	SO:0001583	missense	0			-	HGNC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1888C>A	19.37:g.613914C>A	ENSP00000251287:p.Leu630Ile	Somatic	0	48	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.L630I	ENST00000251287.2	37	c.1888	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	18.58	3.653895	0.67472	.	.	ENSG00000099822	ENST00000251287	D	0.97529	-4.42	3.83	3.83	0.44106	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.98071	0.9364	M	0.73753	2.245	0.80722	D	1	P	0.41910	0.764	P	0.62435	0.902	D	0.99305	1.0902	9	0.72032	D	0.01	.	15.1504	0.72692	0.0:1.0:0.0:0.0	.	630	Q9UL51	HCN2_HUMAN	I	630	ENSP00000251287:L630I	ENSP00000251287:L630I	L	+	1	0	HCN2	564914	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	5.494000	0.66905	1.876000	0.54355	0.425000	0.28330	CTC	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG		0.687	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	protein_coding	OTTHUMT00000452100.1	C	NM_001194	-		613914	1	no_errors	ENST00000251287	ensembl	human	known	74_37	missense	SNP	1.000	A	A	613914	C	A	613914	3	1	58	1	0	0	0	0	1	0	0	0	6999	681	24	3	1914	3	HCN2	19	613914	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		613914	58515069	37	3238											
MAP2K7	5609	genome.wustl.edu	37	chr19	7976147	7976147	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctgcagcccgagcgcattGaccccccagaccccaccaag	8	21	0	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr19:7976147G>A	ENST00000397979.3	+	8	922	c.868G>A	c.(868-870)Gac>Aac	p.D290N	MAP2K7_ENST00000545011.1_Missense_Mutation_p.D332N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D290N|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.D306N	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|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)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CGAGCGCATTGACCCCCCAGA	0.701																																																	0								ENSG00000076984						33	38	36					19																	7976147		1872	4089	5961	MAP2K7	SO:0001583	missense	0			-	HGNC	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.868G>A	19.37:g.7976147G>A	ENSP00000381066:p.Asp290Asn	Somatic	0	22	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D332N	ENST00000397979.3	37	c.994	CCDS42491.1	19	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453583	0.63290	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.67	4.57	0.56435	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	0.38188	0.1031	N	0.04787	-0.16	0.58432	D	0.999997	B;P	0.36144	0.198;0.539	B;B	0.29942	0.049;0.109	T	0.43228	-0.9404	10	0.42905	T	0.14	-11.1265	14.1594	0.65436	0.0:0.1511:0.8489:0.0	.	290;290	O14733-4;O14733	.;MP2K7_HUMAN	N	290;306;332;306;290	ENSP00000381068:D290N;ENSP00000381070:D306N;ENSP00000443946:D332N;ENSP00000381066:D290N	ENSP00000381066:D290N	D	+	1	0	MAP2K7	7882147	1.000000	0.71417	0.869000	0.34112	0.868000	0.49771	7.566000	0.82347	2.836000	0.97738	0.655000	0.94253	GAC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.701	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	protein_coding	OTTHUMT00000267980.1	G		-		7976147	1	no_errors	ENST00000545011	ensembl	human	known	74_37	missense	SNP	0.999	A	A	7976147	G	A	7976147	3	1	58	1	0	0	0	0	1	0	0	0	9244	1290	45	2	898	2	MAP2K7	19	7976147	Missense_Mutation	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	7362233	7976147	51152836	38	3239											
TGM6	343641	genome.wustl.edu	37	chr20	2380365	2380365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacggccagtgctgggtcttCgccggagtcctgtgcacagg	15	12	1	0			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr20:2380365C>A	ENST00000202625.2	+	6	892	c.831C>A	c.(829-831)ttC>ttA	p.F277L	TGM6_ENST00000381423.1_Missense_Mutation_p.F277L|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	277					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTGGGTCTTCGCCGGAGTCC	0.587																																																	0								ENSG00000166948						29	34	32					20																	2380365		2203	4300	6503	TGM6	SO:0001583	missense	0			-	HGNC	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.831C>A	20.37:g.2380365C>A	ENSP00000202625:p.Phe277Leu	Somatic	0	29	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F277L	ENST00000202625.2	37	c.831	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741952	0.69418	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.98264	-4.83;-4.83	5.0	2.9	0.33743	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.050698	0.85682	D	0.000000	D	0.98488	0.9496	M	0.83692	2.655	0.38855	D	0.956357	D;D	0.89917	0.997;1.0	D;D	0.91635	0.944;0.999	D	0.98735	1.0714	10	0.87932	D	0	-22.3758	5.7509	0.18146	0.0:0.6952:0.0:0.3048	.	277;277	O95932-2;O95932	.;TGM3L_HUMAN	L	277	ENSP00000202625:F277L;ENSP00000370831:F277L	ENSP00000202625:F277L	F	+	3	2	TGM6	2328365	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	0.586000	0.23894	1.312000	0.45043	0.561000	0.74099	TTC	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	protein_coding	OTTHUMT00000077581.2	C	NM_198994	-		2380365	1	no_errors	ENST00000202625	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2380365	C	A	2380365	3	1	58	1	0	0	0	0	1	0	0	0	15841	883	31	3	853	3	TGM6	20	2380365	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		2380365	60645155	39	3240											
SLC19A1	6573	genome.wustl.edu	37	chr21	46951687	46951687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgaggaaggccagcgAgatgtagttgagcgtggaga	19	4	0	4			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr21:46951687A>T	ENST00000311124.4	-	3	717	c.565T>A	c.(565-567)Tcg>Acg	p.S189T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.S149T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S189T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.S189T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	189					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AAGGCCAGCGAGATGTAGTTG	0.662																																																	0								ENSG00000173638						75	56	62					21																	46951687		2201	4295	6496	SLC19A1	SO:0001583	missense	0			-	HGNC	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.565T>A	21.37:g.46951687A>T	ENSP00000308895:p.Ser189Thr	Somatic	0	45	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	36.73	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP							pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.S189T	ENST00000311124.4	37	c.565	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	A	15.94	2.979726	0.53827	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.89196	-2.48;-2.48;-2.48	4.78	2.21	0.28008	Major facilitator superfamily domain, general substrate transporter (1);	0.120243	0.64402	N	0.000019	D	0.90280	0.6960	L	0.49571	1.57	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.77004	0.989;0.984;0.984;0.984	D	0.85486	0.1182	10	0.22109	T	0.4	-25.0419	8.9947	0.36045	0.7047:0.0:0.0:0.2953	.	149;211;189;189	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	189;189;149	ENSP00000308895:S189T;ENSP00000369347:S189T;ENSP00000441772:S149T	ENSP00000308895:S189T	S	-	1	0	SLC19A1	45776115	1.000000	0.71417	0.759000	0.31340	0.961000	0.63080	6.623000	0.74238	0.230000	0.21059	0.254000	0.18369	TCG	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.662	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	protein_coding	OTTHUMT00000206796.1	A		-		46951687	-1	no_errors	ENST00000311124	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46951687	A	T	46951687	3	4	58	1	0	0	0	0	1	0	0	0	14436	304	11	5	1226	5	SLC19A1	21	46951687	Missense_Mutation	SNP	A	TCGA-DX-A48K-01A-11D-A307-09		46951687	1178208	40	3241											
TBC1D10A	83874	genome.wustl.edu	37	chr22	30695466	30695466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttctgctgtaacttcacCttgcctcctgacaggtactg	10	12	2	1			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr22:30695466C>A	ENST00000215790.7	-	3	548	c.384G>T	c.(382-384)aaG>aaT	p.K128N	RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.K2N|TBC1D10A_ENST00000490449.1_5'Flank|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K135N|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.K40N	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	128	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTAACTTCACCTTGCCTCCTG	0.567																																																	0								ENSG00000099992						225	156	180					22																	30695466		2203	4300	6503	TBC1D10A	SO:0001583	missense	0			-	HGNC	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.384G>T	22.37:g.30695466C>A	ENSP00000215790:p.Lys128Asn	Somatic	0	45	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.K128N	ENST00000215790.7	37	c.384	CCDS13874.1	22	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126211	0.37533	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T;T	0.17370	3.05;2.28;2.28;2.28;2.28	5.06	2.96	0.34315	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	N	0.20483	0.58	0.54753	D	0.999983	B;B;B	0.28470	0.213;0.115;0.213	B;B;B	0.33960	0.173;0.173;0.173	T	0.17592	-1.0364	9	.	.	.	.	10.8299	0.46654	0.0:0.7716:0.0:0.2284	.	128;135;128	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	N	2;128;135;40;40	ENSP00000401535:K2N;ENSP00000215790:K128N;ENSP00000384996:K135N;ENSP00000385050:K40N;ENSP00000377484:K40N	.	K	-	3	2	TBC1D10A;RP1-130H16.18	29025466	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.164000	0.31810	0.270000	0.21984	-1.134000	0.01955	AAG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.567	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	protein_coding	OTTHUMT00000320550.1	C	NM_031937	-		30695466	-1	no_errors	ENST00000215790	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30695466	C	A	30695466	3	1	58	1	0	0	0	0	1	0	0	0	15605	680	24	3	1170	3	TBC1D10A	22	30695466	Missense_Mutation	SNP	C	TCGA-DX-A48K-01A-11D-A307-09		30695466	20609100	41	3242											
FAM118A	55007	genome.wustl.edu	37	chr22	45719209	45719209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgcagagcagctggaGgtgctgcaccccggagacgt	17	11	0	2			TCGA-DX-A48K-01A-11D-A307-09	TCGA-DX-A48K-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ce6266b-1a84-4c5d-9e07-96b3e9957e4a	f0526221-b66f-4ead-ab8f-d5ce68caab49	g.chr22:45719209G>A	ENST00000216214.3	+	4	1035	c.201G>A	c.(199-201)gaG>gaA	p.E67E	FAM118A_ENST00000405673.1_Silent_p.E67E|FAM118A_ENST00000441876.2_Silent_p.E67E	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	67						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCAGCTGGAGGTGCTGCACC	0.632																																																	0								ENSG00000100376						58	57	57					22																	45719209		2203	4300	6503	FAM118A	SO:0001819	synonymous_variant	0			-	HGNC	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.201G>A	22.37:g.45719209G>A		Somatic	0	19	0		0.501822623986896				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP							superfamily_RNaseH-like_dom	p.E67	ENST00000216214.3	37	c.201	CCDS14065.1	22																																																																																			-	NULL		0.632	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM118A	protein_coding	OTTHUMT00000322260.1	G	NM_017911	-		45719209	1	no_errors	ENST00000216214	ensembl	human	known	74_37	silent	SNP	1.000	A	A	45719209	G	A	45719209	2	1	58	1	0	0	0	0	0	0	0	1	5413	991	35	2		2	FAM118A	22	45719209	Silent	SNP	G	TCGA-DX-A48K-01A-11D-A307-09	15023743	45719209	5585357	42	3243											
PRDM2	7799	genome.wustl.edu	37	chr1	14106018	14106018	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatggtaaaattcaaacTaataacaacactagtaactg	5	6	1	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:14106018T>G	ENST00000235372.7	+	8	2584	c.1728T>G	c.(1726-1728)acT>acG	p.T576T	PRDM2_ENST00000413440.1_Silent_p.T375T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.T375T|PRDM2_ENST00000311066.5_Silent_p.T576T|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATTCAAACTAATAACAACA	0.373																																																	0								ENSG00000116731						48	51	50					1																	14106018		2203	4300	6503	PRDM2	SO:0001819	synonymous_variant	0			-	HGNC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1728T>G	1.37:g.14106018T>G		Somatic	0	25	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP							pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.T576	ENST00000235372.7	37	c.1728	CCDS150.1	1																																																																																			-	pirsf_RIZ_retinblastoma-bd_prot		0.373	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	protein_coding	OTTHUMT00000021792.2	T	NM_012231	-		14106018	1	no_errors	ENST00000235372	ensembl	human	known	74_37	silent	SNP	1.000	G	G	14106018	T	G	14106018	2	3	59	1	0	0	0	0	0	0	0	1	12463	1509	53	5		5	PRDM2	1	14106018	Silent	SNP	T	TCGA-DX-A48L-01A-11D-A307-09		14106018	235144603	1	3244											
EPHA2	1969	genome.wustl.edu	37	chr1	16458297	16458297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaaagctccacacgtcGctggcagaggtgaacttccg	11	13	0	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:16458297G>A	ENST00000358432.5	-	14	2548	c.2394C>T	c.(2392-2394)agC>agT	p.S798S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	798	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	TCCACACGTCGCTGGCAGAGG	0.637																																																	0								ENSG00000142627						82	73	76					1																	16458297		2203	4300	6503	EPHA2	SO:0001819	synonymous_variant	0			-	HGNC	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.2394C>T	1.37:g.16458297G>A		Somatic	0	39	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B5A968|Q8N3Z2	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S798	ENST00000358432.5	37	c.2394	CCDS169.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	G	NM_004431	-		16458297	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	SNP	0.865	A	A	16458297	G	A	16458297	2	1	59	1	0	0	0	0	0	0	0	1	5169	1078	38	1		1	EPHA2	1	16458297	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	2352279	16458297	232792324	2	3245											
SEPN1	57190	genome.wustl.edu	37	chr1	26138259	26138259	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatgatcgacagccacctGccttcaggggagcccctgca	11	15	1	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:26138259G>T	ENST00000374315.1	+	8	1106	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Silent_p.L356L|SEPN1_ENST00000361547.2_Silent_p.L390L	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	390						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCCACCTGCCTTCAGGGG	0.642																																																	0								ENSG00000162430						25	27	26					1																	26138259		2078	4222	6300	SEPN1	SO:0001819	synonymous_variant	0			-	HGNC	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1068G>T	1.37:g.26138259G>T		Somatic	0	37	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP							pfscan_EF_hand_dom	p.L356	ENST00000374315.1	37	c.1068	CCDS41283.1	1																																																																																			-	NULL		0.642	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SEPN1	protein_coding	OTTHUMT00000019315.2	G	NM_020451	-		26138259	1	no_errors	ENST00000354177	ensembl	human	known	74_37	silent	SNP	0.977	T	T	26138259	G	T	26138259	2	4	59	1	0	0	0	0	0	0	0	1	14064	1306	46	3		3	SEPN1	1	26138259	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	9679962	26138259	223112362	3	3246											
POU3F1	5453	genome.wustl.edu	37	chr1	38511693	38511693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgtccgagtgctcgccCaccgatgagccgccgccgcc	11	20	0	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:38511693C>T	ENST00000373012.2	-	1	757	c.723G>A	c.(721-723)gtG>gtA	p.V241V	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	241	Gly-rich.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTGCTCGCCCACCGATGAgc	0.731																																																	0								ENSG00000185668						11	12	12					1																	38511693		2192	4284	6476	POU3F1	SO:0001819	synonymous_variant	0			-	HGNC	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"Homeoboxes / POU class"	9214	protein-coding gene	gene with protein product		602479	"POU domain class 3, transcription factor 1"	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.723G>A	1.37:g.38511693C>T		Somatic	0	30	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	Q5TAG2	Silent	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.V241	ENST00000373012.2	37	c.723	CCDS30679.1	1																																																																																			-	pirsf_Transcription_factor_POU		0.731	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F1	protein_coding	OTTHUMT00000001213.1	C	NM_002699	-		38511693	-1	no_errors	ENST00000373012	ensembl	human	known	74_37	silent	SNP	1.000	T	T	38511693	C	T	38511693	2	4	59	1	0	0	0	0	0	0	0	1	12276	581	21	2		2	POU3F1	1	38511693	Silent	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	12373434	38511693	210738928	4	3247											
HPDL	84842	genome.wustl.edu	37	chr1	45793456	45793456	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtttgggcttgggggactGaggcttacagccctgcaggc	18	9	0	1	rs144274967	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:45793456G>T	ENST00000334815.3	+	1	912	c.636G>T	c.(634-636)ctG>ctT	p.L212L		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	212					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGGGGGACTGAGGCTTACAG	0.647																																																	0								ENSG00000186603						41	44	43					1																	45793456		2203	4300	6503	HPDL	SO:0001819	synonymous_variant	0			-	HGNC	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.636G>T	1.37:g.45793456G>T		Somatic	0	32	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R9B0	Silent	SNP							pirsf_4OHPhenylPyrv_dOase	p.L212	ENST00000334815.3	37	c.636	CCDS519.1	1																																																																																			-	pirsf_4OHPhenylPyrv_dOase		0.647	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPDL	protein_coding	OTTHUMT00000020527.1	G	NM_032756	-		45793456	1	no_errors	ENST00000334815	ensembl	human	known	74_37	silent	SNP	0.810	T	T	45793456	G	T	45793456	2	4	59	1	0	0	0	0	0	0	0	1	7335	1277	45	3		3	HPDL	1	45793456	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	7281763	45793456	203457165	5	3248											
MKNK1	8569	genome.wustl.edu	37	chr1	47042283	47042283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatacagcgtctccacctctCgaaacaccctactccgactg	6	17	2	0	rs143453771	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:47042283C>A	ENST00000371946.4	-	5	441	c.278G>T	c.(277-279)cGa>cTa	p.R93L	MKNK1_ENST00000428112.2_Missense_Mutation_p.R93L|MKNK1_ENST00000371945.4_Missense_Mutation_p.R93L|MKNK1_ENST00000371944.4_Nonsense_Mutation_p.E23*|MKNK1_ENST00000545730.1_Missense_Mutation_p.R93L|MKNK1_ENST00000341183.5_Missense_Mutation_p.R93L	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTCCACCTCTCGAAACACCCT	0.507																																																	0								ENSG00000079277						254	183	207					1																	47042283		2203	4300	6503	MKNK1	SO:0001583	missense	0			-	HGNC	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.278G>T	1.37:g.47042283C>A	ENSP00000361014:p.Arg93Leu	Somatic	0	31	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E23*	ENST00000371946.4	37	c.67	CCDS538.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.018371|6.018371	0.97205|0.97205	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000371944|ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000532783;ENST00000496619;ENST00000528237;ENST00000545730;ENST00000529170;ENST00000531769	.|T;T;T;T;T;T;T;T;T;T	.|0.45276	.|1.9;1.9;1.9;1.9;0.9;1.65;0.9;3.12;0.9;0.9	5.3|5.3	5.3|5.3	0.74995|0.74995	.|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	.|0.65228	.|0.2671	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;0.994;0.993;1.0;0.992	.|D;D;P;D;D	.|0.79784	.|0.988;0.923;0.875;0.993;0.922	.|T	.|0.67624	.|-0.5623	.|10	0.87932|0.72032	D|D	0|0.01	.|.	16.5102|16.5102	0.84282|0.84282	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93;93;93;93;93	.|B4E1V9;A8K341;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.|.;.;.;.;MKNK1_HUMAN	X|L	23|93;93;93;93;81;93;87;93;93;93	.|ENSP00000361014:R93L;ENSP00000361013:R93L;ENSP00000339573:R93L;ENSP00000411135:R93L;ENSP00000431837:R81L;ENSP00000436709:R93L;ENSP00000432665:R87L;ENSP00000440974:R93L;ENSP00000435163:R93L;ENSP00000434021:R93L	ENSP00000361012:E23X|ENSP00000339573:R93L	E|R	-|-	1|2	0|0	MKNK1|MKNK1	46814870|46814870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	5.587000|5.587000	0.67510|0.67510	2.775000|2.775000	0.95449|0.95449	0.585000|0.585000	0.79938|0.79938	GAG|CGA	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.507	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	protein_coding	OTTHUMT00000021897.2	C	NM_003684	-		47042283	-1	no_errors	ENST00000371944	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	47042283	C	A	47042283	3	1	59	1	0	0	0	0	1	0	0	0	9606	884	31	3	1159	3	MKNK1	1	47042283	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	1248827	47042283	202208338	6	3249											
CFH	3075	genome.wustl.edu	37	chr1	196695646	196695646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaactcctcaatgggaaTgttaaggaaaaaacgaaaga	9	7	1	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:196695646T>C	ENST00000367429.4	+	13	2160	c.1920T>C	c.(1918-1920)aaT>aaC	p.N640N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	640	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAATGGGAATGTTAAGGAAA	0.328																																																	0								ENSG00000000971						80	86	84					1																	196695646		2203	4299	6502	CFH	SO:0001819	synonymous_variant	0			-	HGNC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1920T>C	1.37:g.196695646T>C		Somatic	0	34	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.N640	ENST00000367429.4	37	c.1920	CCDS1385.1	1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.328	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	protein_coding	OTTHUMT00000086412.2	T	NM_000186	-		196695646	1	no_errors	ENST00000367429	ensembl	human	known	74_37	silent	SNP	0.000	C	C	196695646	T	C	196695646	2	2	59	1	0	0	0	0	0	0	0	1	3285	1461	51	5		5	CFH	1	196695646	Silent	SNP	T	TCGA-DX-A48L-01A-11D-A307-09	149653363	196695646	52554975	7	3250											
IPO9	55705	genome.wustl.edu	37	chr1	201821260	201821260	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgtgaagtaacagacacacaGatgccacttgttgctcctgt	9	11	0	3			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:201821260G>T	ENST00000361565.4	+	5	612	c.543G>T	c.(541-543)caG>caT	p.Q181H	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	181					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAGACACACAGATGCCACTTG	0.363																																																	0								ENSG00000198700						107	103	105					1																	201821260		2203	4300	6503	IPO9	SO:0001583	missense	0			-	HGNC	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.543G>T	1.37:g.201821260G>T	ENSP00000354742:p.Gln181His	Somatic	0	35	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP							pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q181H	ENST00000361565.4	37	c.543	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286725	0.80803	.	.	ENSG00000198700	ENST00000361565	T	0.67865	-0.29	5.93	3.75	0.43078	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.77239	-0.2661	10	0.52906	T	0.07	-5.8877	8.1739	0.31270	0.2594:0.0:0.7406:0.0	.	181	Q96P70	IPO9_HUMAN	H	181	ENSP00000354742:Q181H	ENSP00000354742:Q181H	Q	+	3	2	IPO9	200087883	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.086000	0.57664	1.523000	0.49018	0.557000	0.71058	CAG	-	superfamily_ARM-type_fold		0.363	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	protein_coding	OTTHUMT00000087088.1	G	NM_018085	-		201821260	1	no_errors	ENST00000361565	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201821260	G	T	201821260	3	4	59	1	0	0	0	0	1	0	0	0	7801	933	33	3	561	3	IPO9	1	201821260	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	5125614	201821260	47429361	8	3251											
OBSCN	84033	genome.wustl.edu	37	chr1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtggcccctggcacaCgcctggccaagttccagctc	11	17	0	0	rs564170262		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:228520994C>T	ENST00000422127.1	+	58	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5276C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2395C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2910C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6233C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5276	Ig-like 50.				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)				CCCTGGCACACGCCTGGCCAA	0.637													C|||	1	0.000199681	0	0	5008	,	,		17603	0.001		0	False		,,,				2504	0																0								ENSG00000154358						11	14	13					1																	228520994		1999	4132	6131	OBSCN	SO:0001583	missense	0			-	HGNC	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.15826C>T	1.37:g.228520994C>T	ENSP00000409493:p.Arg5276Cys	Somatic	0	48	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	52	35.00	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R5276C	ENST00000422127.1	37	c.15826	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958704	0.92726	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149514	0.43579	D	0.000550	T	0.60483	0.2272	M	0.74467	2.265	0.44366	D	0.99726	D;D	0.76494	0.999;0.998	P;P	0.60609	0.877;0.804	T	0.61535	-0.7043	10	0.51188	T	0.08	.	14.3599	0.66764	0.0:0.9273:0.0:0.0727	.	5276;5276	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5276;5276;2910;2395	ENSP00000284548:R5276C;ENSP00000409493:R5276C;ENSP00000355668:R2910C;ENSP00000355670:R2395C	ENSP00000284548:R5276C	R	+	1	0	OBSCN	226587617	0.528000	0.26314	1.000000	0.80357	0.972000	0.66771	2.567000	0.45956	2.745000	0.94114	0.561000	0.74099	CGC	-	pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228520994	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.995	T	T	228520994	C	T	228520994	3	4	59	1	0	0	0	0	1	0	0	0	10814	536	19	1	16052	1	OBSCN	1	228520994	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	26699734	228520994	20729627	9	3252											
GPR137B	7107	genome.wustl.edu	37	chr1	236343299	236343299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaagagcgtccattcctttGattatgactggtacaatgta	8	8	0	3			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:236343299G>C	ENST00000366592.3	+	4	899	c.808G>C	c.(808-810)Gat>Cat	p.D270H	GPR137B_ENST00000366591.4_Missense_Mutation_p.D179H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	270						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCATTCCTTTGATTATGACTG	0.522																																																	0								ENSG00000077585						173	145	154					1																	236343299		2203	4300	6503	GPR137B	SO:0001583	missense	0			-	HGNC	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.808G>C	1.37:g.236343299G>C	ENSP00000355551:p.Asp270His	Somatic	0	22	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP							NULL	p.D270H	ENST00000366592.3	37	c.808	CCDS1609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.666555|4.666555	0.88251|0.88251	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162|ENST00000454895	T;T;T|.	0.50813|.	0.74;0.73;0.78|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77498|0.77498	0.4139|0.4139	M|M	0.76002|0.76002	2.32|2.32	0.48341|0.48341	D|D	0.99963|0.99963	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.76526|0.76526	-0.2927|-0.2927	10|5	0.87932|.	D|.	0|.	-15.3472|-15.3472	19.5534|19.5534	0.95331|0.95331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	133;270|.	Q5TAF1;O60478|.	.;G137B_HUMAN|.	H|F	270;179;269;52|133	ENSP00000355551:D270H;ENSP00000355550:D179H;ENSP00000401841:D52H|.	ENSP00000355550:D179H|.	D|L	+|+	1|3	0|2	GPR137B|GPR137B	234409922|234409922	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.907000|0.907000	0.53573|0.53573	9.292000|9.292000	0.96076|0.96076	2.697000|2.697000	0.92050|0.92050	0.563000|0.563000	0.77884|0.77884	GAT|TTG	-	NULL		0.522	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	protein_coding	OTTHUMT00000092761.1	G	NM_003272	-		236343299	1	no_errors	ENST00000366592	ensembl	human	known	74_37	missense	SNP	1.000	C	C	236343299	G	C	236343299	3	2	59	1	0	0	0	0	1	0	0	0	6648	1290	45	4	822	4	GPR137B	1	236343299	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	7822305	236343299	12907322	10	3253											
PLB1	151056	genome.wustl.edu	37	chr2	28855889	28855889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgccgagatggccatcGcactctggaacaacatggtg	13	11	1	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:28855889G>T	ENST00000327757.5	+	56	4125	c.4081G>T	c.(4081-4083)Gca>Tca	p.A1361S	PLB1_ENST00000541605.1_Missense_Mutation_p.A326S|AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000422425.2_Missense_Mutation_p.A1350S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1361	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GATGGCCATCGCACTCTGGAA	0.552																																																	0								ENSG00000163803						105	96	99					2																	28855889		2203	4300	6503	PLB1	SO:0001583	missense	0			-	HGNC		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4081G>T	2.37:g.28855889G>T	ENSP00000330442:p.Ala1361Ser	Somatic	0	30	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP							pfam_Lipase_GDSL	p.A1350S	ENST00000327757.5	37	c.4048	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.50|17.50	3.405639|3.405639	0.62288|0.62288	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605|ENST00000436775	T;T;T|.	0.25749|.	1.78;1.78;1.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.77616|0.77616	2.38|2.38	0.43275|0.43275	D|D	0.995236|0.995236	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.75886|0.75886	-0.3159|-0.3159	10|5	0.22109|.	T|.	0.4|.	-24.5337|-24.5337	15.4962|15.4962	0.75653|0.75653	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1350;1361|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	S|L	1361;1350;326|88	ENSP00000330442:A1361S;ENSP00000416440:A1350S;ENSP00000437426:A326S|.	ENSP00000330442:A1361S|.	A|R	+|+	1|2	0|0	PLB1|PLB1	28709393|28709393	0.997000|0.997000	0.39634|0.39634	0.636000|0.636000	0.29352|0.29352	0.829000|0.829000	0.46940|0.46940	5.136000|5.136000	0.64783|0.64783	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	GCA|CGC	-	pfam_Lipase_GDSL		0.552	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	protein_coding	OTTHUMT00000353348.2	G		-		28855889	1	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	SNP	0.711	T	T	28855889	G	T	28855889	3	4	59	1	0	0	0	0	1	0	0	0	12026	1087	38	3	4336	3	PLB1	2	28855889	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		28855889	214343484	11	3254											
TIA1	7072	genome.wustl.edu	37	chr2	70441617	70441617	+	Frame_Shift_Del	DEL	T	T	-													ataaggttggggatatccaaTttgattctgctattaaataa							TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:70441617delT	ENST00000433529.2	-	12	1108	c.898delA	c.(898-900)attfs	p.I300fs	TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000282574.4_Frame_Shift_Del_p.I299fs|TIA1_ENST00000415783.2_Frame_Shift_Del_p.I289fs|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	300					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGATATCCAATTTGATTCTGC	0.368																																																	0								ENSG00000116001						55	50	52					2																	70441617		2203	4300	6503	TIA1	SO:0001589	frameshift_variant	0				HGNC		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.898delA	2.37:g.70441617delT	ENSP00000401371:p.Ile300fs	Somatic	0	22	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	10	79.17	Q53SS9	Frame_Shift_Del	DEL							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.I300fs	ENST00000433529.2	37	c.898	CCDS1901.1	2																																																																																			-	NULL		0.368	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	protein_coding	OTTHUMT00000251842.2	T	NM_022037			70441617	-1	no_errors	ENST00000433529	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70441617	T	-	70441617	7	5	59	1	0	1	0	1	0	0	0	0	15894	1493	52	0	270	0	TIA1	2	70441617	Frame_Shift_Del	DEL	T	TCGA-DX-A48L-01A-11D-A307-09	41585728	70441617	172757756	12	3255											
ATOH8	84913	genome.wustl.edu	37	chr2	85991284	85991284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccgcaccctgcaggccgaGggacgtgccaagaagcgcaa	13	15	0	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:85991284G>T	ENST00000306279.3	+	2	1235	c.939G>T	c.(937-939)gaG>gaT	p.E313D	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	313					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGCAGGCCGAGGGACGTGCCA	0.652																																																	0								ENSG00000168874						55	51	52					2																	85991284		2203	4300	6503	ATOH8	SO:0001583	missense	0			-	HGNC	AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"Basic helix-loop-helix proteins"	24126	protein-coding gene	gene with protein product	"basic helix loop helix transcription factor 6"					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.939G>T	2.37:g.85991284G>T	ENSP00000304676:p.Glu313Asp	Somatic	0	34	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.51	Q504S2|Q659B0	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E313D	ENST00000306279.3	37	c.939	CCDS1985.1	2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550751	0.65311	.	.	ENSG00000168874	ENST00000306279	D	0.96396	-4.0	5.02	3.16	0.36331	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	L	0.60455	1.87	0.44462	D	0.997392	D;P	0.58970	0.984;0.941	P;P	0.52758	0.708;0.696	D	0.94720	0.7900	10	0.72032	D	0.01	-6.3594	8.744	0.34575	0.2616:0.0:0.7384:0.0	.	313;313	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	D	313	ENSP00000304676:E313D	ENSP00000304676:E313D	E	+	3	2	ATOH8	85844795	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.708000	0.37899	1.235000	0.43724	0.655000	0.94253	GAG	-	superfamily_bHLH_dom		0.652	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH8	protein_coding	OTTHUMT00000252496.1	G	NM_032827	-		85991284	1	no_errors	ENST00000306279	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85991284	G	T	85991284	3	4	59	1	0	0	0	0	1	0	0	0	1114	991	35	3	945	3	ATOH8	2	85991284	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	15549667	85991284	157208089	13	3256											
SCN2A	6326	genome.wustl.edu	37	chr2	166245346	166245346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgttcatctacgccatctTtgggatgtccaattttgcct	7	11	3	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:166245346T>A	ENST00000375437.2	+	27	5320	c.5030T>A	c.(5029-5031)tTt>tAt	p.F1677Y	SCN2A_ENST00000375427.2_Missense_Mutation_p.F1677Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.F1677Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.F1677Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1677					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACGCCATCTTTGGGATGTCC	0.463																																																	0								ENSG00000136531						191	181	184					2																	166245346		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5030T>A	2.37:g.166245346T>A	ENSP00000364586:p.Phe1677Tyr	Somatic	0	83	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	114	121	48.51	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F1677Y	ENST00000375437.2	37	c.5030	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665056	0.67700	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99272	0.9746	M	0.91140	3.18	0.58432	D	0.999999	D;P	0.69078	0.997;0.801	D;P	0.72982	0.979;0.797	D	0.99087	1.0839	10	0.87932	D	0	.	15.9562	0.79889	0.0:0.0:0.0:1.0	.	1677;1677	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	1677	ENSP00000364586:F1677Y;ENSP00000349973:F1677Y;ENSP00000283256:F1677Y;ENSP00000364576:F1677Y	ENSP00000283256:F1677Y	F	+	2	0	SCN2A	165953592	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.994000	0.88315	2.227000	0.72691	0.524000	0.50904	TTT	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.463	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	T	NM_021007	-		166245346	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	166245346	T	A	166245346	3	1	59	1	0	0	0	0	1	0	0	0	13924	1841	64	5	5228	5	SCN2A	2	166245346	Missense_Mutation	SNP	T	TCGA-DX-A48L-01A-11D-A307-09	80254062	166245346	76954027	14	3257											
ZDBF2	57683	genome.wustl.edu	37	chr2	207173373	207173373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattccaatgactcttTtcaggcagcagcagatgagc	9	10	3	4			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:207173373T>C	ENST00000374423.3	+	5	4507	c.4121T>C	c.(4120-4122)tTt>tCt	p.F1374S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1374							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGACTCTTTTCAGGCAGCA	0.373																																																	0								ENSG00000204186						47	45	46					2																	207173373		1832	4104	5936	ZDBF2	SO:0001583	missense	0			-	HGNC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4121T>C	2.37:g.207173373T>C	ENSP00000363545:p.Phe1374Ser	Somatic	0	27	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	2	96.15	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP							pfam_Znf_DBF,smart_Znf_DBF	p.F1374S	ENST00000374423.3	37	c.4121	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376181	0.24857	.	.	ENSG00000204186	ENST00000374423	T	0.43688	0.94	3.63	1.2	0.21068	.	.	.	.	.	T	0.23649	0.0572	L	0.29908	0.895	0.09310	N	1	P	0.38978	0.652	B	0.30179	0.112	T	0.08764	-1.0706	9	0.22706	T	0.39	.	8.1435	0.31097	0.0:0.0:0.3314:0.6686	.	1374	Q9HCK1	ZDBF2_HUMAN	S	1374	ENSP00000363545:F1374S	ENSP00000363545:F1374S	F	+	2	0	ZDBF2	206881618	0.325000	0.24660	0.015000	0.15790	0.010000	0.07245	0.761000	0.26489	0.242000	0.21303	0.528000	0.53228	TTT	-	NULL		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	T	NM_020923	-		207173373	1	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	SNP	0.022	C	C	207173373	T	C	207173373	3	2	59	1	0	0	0	0	1	0	0	0	17606	1841	64	5	4131	5	ZDBF2	2	207173373	Missense_Mutation	SNP	T	TCGA-DX-A48L-01A-11D-A307-09	40928027	207173373	36026000	15	3258											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	16	14	0	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|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)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0								ENSG00000068024						77	85	82					2																	240016733		2203	4300	6503	HDAC4	SO:0001583	missense	0			-	HGNC	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu	Somatic	0	39	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q9UND6	Missense_Mutation	SNP							pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	protein_coding	OTTHUMT00000257174.2	G	NM_006037	-		240016733	-1	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	SNP	0.191	T	T	240016733	G	T	240016733	3	4	59	1	0	0	0	0	1	0	0	0	7011	1049	37	3	1060	3	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	32843360	240016733	3182640	16	3259											
PARP3	10039	genome.wustl.edu	37	chr3	51979084	51979084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcgaggccttggaggcGctggaggaggccctgaaagg	19	8	0	1	rs540910959		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr3:51979084G>A	ENST00000417220.2	+	7	1193	c.705G>A	c.(703-705)gcG>gcA	p.A235A	PARP3_ENST00000398755.3_Silent_p.A242A|PARP3_ENST00000431474.1_Silent_p.A235A			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	235	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTGGAGGCGCTGGAGGAGG	0.607																																																	0								ENSG00000041880						57	69	65					3																	51979084		2029	4174	6203	PARP3	SO:0001819	synonymous_variant	0			-	HGNC	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.705G>A	3.37:g.51979084G>A		Somatic	0	48	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8NER9|Q96CG2|Q9UG81	Silent	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A242	ENST00000417220.2	37	c.726	CCDS43097.1	3																																																																																			-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom		0.607	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	protein_coding	OTTHUMT00000348612.2	G	NM_005485.4	-		51979084	1	no_errors	ENST00000398755	ensembl	human	known	74_37	silent	SNP	0.000	A	A	51979084	G	A	51979084	2	1	59	1	0	0	0	0	0	0	0	1	11464	1074	38	1		1	PARP3	3	51979084	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		51979084	146043346	17	3260											
ZNF595	152687	genome.wustl.edu	37	chr4	86907	86907	+	3'UTR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataagaatattcatactggaGagaaaccctacaaatgtaaa	6	6	1	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:86907G>T	ENST00000339368.6	+	0	1716							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCATACTGGAGAGAAACCCTA	0.373																																																	0								ENSG00000197701						46	52	50					4																	86907		2109	4253	6362	ZNF595	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1713G>T	4.37:g.86907G>T		Somatic	0	16	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	3	88.46		RNA	SNP							-	NULL	ENST00000339368.6	37	NULL		4																																																																																			-	-		0.373	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	protein_coding	OTTHUMT00000357814.2	G	NM_182524	-		86907	1	no_errors	ENST00000339368	ensembl	human	known	74_37	rna	SNP	1.000	T	T	86907	G	T	86907	1	4	59	0	1	0	0	0	0	0	0	0	18032	933	33	3		3	ZNF595	4	86907	3'UTR	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		86907	191067369	18	3261											
SDAD1	55153	genome.wustl.edu	37	chr4	76894479	76894479	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaaactaacctcagattcGgagtcactgtcctgtttttc	6	10	2	1	rs199638357		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:76894479G>T	ENST00000356260.5	-	8	820	c.702C>A	c.(700-702)tcC>tcA	p.S234S	SDAD1_ENST00000395711.4_Silent_p.S197S|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	234					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCAGATTCGGAGTCACTGT	0.358																																																	0								ENSG00000198301						140	137	138					4																	76894479		2203	4300	6503	SDAD1	SO:0001819	synonymous_variant	0			-	HGNC	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.702C>A	4.37:g.76894479G>T		Somatic	0	25	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP							pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.S234	ENST00000356260.5	37	c.702	CCDS3573.2	4																																																																																			-	superfamily_ARM-type_fold		0.358	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	protein_coding	OTTHUMT00000252418.3	G	NM_018115	-		76894479	-1	no_errors	ENST00000356260	ensembl	human	known	74_37	silent	SNP	0.859	T	T	76894479	G	T	76894479	2	4	59	1	0	0	0	0	0	0	0	1	13958	1103	39	3		3	SDAD1	4	76894479	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	76807572	76894479	114259797	19	3262											
KIAA1109	84162	genome.wustl.edu	37	chr4	123175371	123175371	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaaggagtcgaatctgatGatttgaaaaaagatctacct	9	5	2	5			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:123175371G>A	ENST00000264501.4	+	38	6317	c.5944G>A	c.(5944-5946)Gat>Aat	p.D1982N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1982N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1982N			Q2LD37	K1109_HUMAN	KIAA1109	1982					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						CGAATCTGATGATTTGAAAAA	0.368																																																	0								ENSG00000138688						119	107	111					4																	123175371		1850	4087	5937	KIAA1109	SO:0001583	missense	0			-	HGNC	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.5944G>A	4.37:g.123175371G>A	ENSP00000264501:p.Asp1982Asn	Somatic	0	53	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	14.00	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP							pfam_Fragile_site-assoc_C	p.D1982N	ENST00000264501.4	37	c.5944	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.418879|3.418879	0.62622|0.62622	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.24350|.	2.45;2.45;1.86|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.52532|.	U|.	0.000080|.	T|T	0.68081|0.68081	0.2962|0.2962	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.67145|.	0.996;0.993|.	D;D|.	0.79784|.	0.993;0.984|.	T|T	0.63950|0.63950	-0.6521|-0.6521	10|5	0.15066|.	T|.	0.55|.	.|.	19.0871|19.0871	0.93209|0.93209	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1981;1982|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	N|I	1982|554	ENSP00000264501:D1982N;ENSP00000373390:D1982N;ENSP00000389925:D1982N|.	ENSP00000264501:D1982N|.	D|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123394821|123394821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.787000|9.787000	0.99055|0.99055	2.514000|2.514000	0.84764|0.84764	0.591000|0.591000	0.81541|0.81541	GAT|ATG	-	NULL		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	G	NM_020797	-		123175371	1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123175371	G	A	123175371	3	1	59	1	0	0	0	0	1	0	0	0	8210	1290	45	2	6086	2	KIAA1109	4	123175371	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	46280892	123175371	67978905	20	3263											
C4orf41	60684	genome.wustl.edu	37	chr4	184629623	184629623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatttctatcctctgatgGctggataccagcagctgcca	8	11	2	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:184629623G>A	ENST00000334690.6	+	29	3455	c.3253G>A	c.(3253-3255)Gct>Act	p.A1085T	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A691T	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1085					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TCCTCTGATGGCTGGATACCA	0.403																																																	0								ENSG00000168538						99	95	96					4																	184629623		2203	4300	6503	TRAPPC11	SO:0001583	missense	0			-	HGNC		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3253G>A	4.37:g.184629623G>A	ENSP00000335371:p.Ala1085Thr	Somatic	0	50	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP							pfam_Foie-gras_1,pfam_DUF1683_C	p.A1085T	ENST00000334690.6	37	c.3253	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735017	0.89482	.	.	ENSG00000168538	ENST00000334690;ENST00000512476	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.48362	1.52	0.80722	D	1	D;P	0.89917	1.0;0.659	D;B	0.91635	0.999;0.228	T	0.66858	-0.5817	9	0.16420	T	0.52	.	18.4694	0.90767	0.0:0.0:1.0:0.0	.	691;1085	D6RHE5;Q7Z392	.;TPC11_HUMAN	T	1085;691	.	ENSP00000335371:A1085T	A	+	1	0	C4orf41	184866617	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	9.840000	0.99478	2.352000	0.79861	0.557000	0.71058	GCT	-	pfam_DUF1683_C		0.403	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	protein_coding	OTTHUMT00000361654.2	G	NM_021942	-		184629623	1	no_errors	ENST00000334690	ensembl	human	known	74_37	missense	SNP	1.000	A	A	184629623	G	A	184629623	3	1	59	1	0	0	0	0	1	0	0	0	2272	1203	42	2	3363	2	C4orf41	4	184629623	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	61454252	184629623	6524653	21	3264											
GPRIN1	114787	genome.wustl.edu	37	chr5	176025351	176025351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccaaggacctgggatcGcctggacctgaagacacagg	13	13	0	2	rs147157849		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr5:176025351G>A	ENST00000303991.4	-	2	1662	c.1485C>T	c.(1483-1485)ggC>ggT	p.G495G		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	495					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTGGGATCGCCTGGACCTG	0.552													g|||	1	0.000199681	0	0	5008	,	,		20728	0.001		0	False		,,,				2504	0																0								ENSG00000169258						82	91	88					5																	176025351		2203	4294	6497	GPRIN1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1485C>T	5.37:g.176025351G>A		Somatic	0	26	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	48.15	C9JM70|Q8ND74|Q96PZ4	Silent	SNP							NULL	p.G495	ENST00000303991.4	37	c.1485	CCDS4405.1	5																																																																																			-	NULL		0.552	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	G	NM_052899	rs147157849		176025351	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	silent	SNP	0.000	A	A	176025351	G	A	176025351	2	1	59	1	0	0	0	0	0	0	0	1	6731	1074	38	1		1	GPRIN1	5	176025351	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		176025351	4889909	22	3265											
FBXO9	26268	genome.wustl.edu	37	chr6	52957553	52957553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtatatcagtaaaaccaCatatattcgtcaaggggaac	8	8	2	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr6:52957553C>T	ENST00000244426.6	+	8	996	c.824C>T	c.(823-825)aCa>aTa	p.T275I	FBXO9_ENST00000323557.7_Missense_Mutation_p.T265I|FBXO9_ENST00000370939.3_Missense_Mutation_p.T231I|RN7SL244P_ENST00000493405.2_RNA	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	275					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AGTAAAACCACATATATTCGT	0.333																																																	0								ENSG00000112146						73	64	67					6																	52957553		1812	4081	5893	FBXO9	SO:0001583	missense	0			-	HGNC	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.824C>T	6.37:g.52957553C>T	ENSP00000244426:p.Thr275Ile	Somatic	0	40	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.T275I	ENST00000244426.6	37	c.824	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892932	0.52121	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.79352	-1.25;-1.25;-1.26	5.53	4.66	0.58398	F-box domain, Skp2-like (1);	0.098508	0.64402	N	0.000001	T	0.77110	0.4082	M	0.77616	2.38	0.51233	D	0.999911	P;P;P	0.51057	0.935;0.941;0.565	P;P;B	0.51453	0.591;0.67;0.205	T	0.80856	-0.1195	10	0.66056	D	0.02	-6.6212	10.7331	0.46109	0.1318:0.7988:0.0:0.0694	.	265;382;275	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	I	231;265;275	ENSP00000359977:T231I;ENSP00000326968:T265I;ENSP00000244426:T275I	ENSP00000244426:T275I	T	+	2	0	FBXO9	53065512	1.000000	0.71417	0.613000	0.29037	0.942000	0.58702	4.707000	0.61852	1.462000	0.47948	0.563000	0.77884	ACA	-	superfamily_F-box_dom		0.333	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	protein_coding	OTTHUMT00000040950.3	C		-		52957553	1	no_errors	ENST00000244426	ensembl	human	known	74_37	missense	SNP	0.896	T	T	52957553	C	T	52957553	3	4	59	1	0	0	0	0	1	0	0	0	5764	478	17	2	861	2	FBXO9	6	52957553	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09		52957553	118157514	23	3266											
EYS	346007	genome.wustl.edu	37	chr6	66045003	66045003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataccgatattcctgactgtCttcttcactcaaacaactgc	4	13	4	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr6:66045003C>G	ENST00000370621.3	-	11	2162	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	EYS_ENST00000393380.2_Missense_Mutation_p.D546H|EYS_ENST00000370618.3_Missense_Mutation_p.D546H|EYS_ENST00000342421.5_Missense_Mutation_p.D546H|EYS_ENST00000503581.1_Missense_Mutation_p.D546H|EYS_ENST00000370616.2_Missense_Mutation_p.D546H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	546					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTGACTGTCTTCTTCACTC	0.353																																																	0								ENSG00000188107						154	142	146					6																	66045003		2203	4300	6503	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1636G>C	6.37:g.66045003C>G	ENSP00000359655:p.Asp546His	Somatic	0	12	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D546H	ENST00000370621.3	37	c.1636		6	.	.	.	.	.	.	.	.	.	.	c	9.312	1.055739	0.19907	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	3.8	2.85	0.33270	.	.	.	.	.	T	0.06690	0.0171	L	0.32530	0.975	0.09310	N	1	B;P;B	0.35242	0.16;0.492;0.36	B;B;B	0.30855	0.04;0.121;0.099	T	0.18053	-1.0349	9	0.21014	T	0.42	.	9.7053	0.40211	0.0:0.7874:0.2126:0.0	.	546;546;546	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	546	ENSP00000424243:D546H;ENSP00000359655:D546H;ENSP00000359650:D546H;ENSP00000377042:D546H;ENSP00000341818:D546H;ENSP00000359652:D546H	ENSP00000341818:D546H	D	-	1	0	EYS	66101724	0.901000	0.30685	0.228000	0.23943	0.028000	0.11728	0.396000	0.20867	1.834000	0.53371	0.491000	0.48974	GAC	-	NULL		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		66045003	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.249	G	G	66045003	C	G	66045003	3	3	59	1	0	0	0	0	1	0	0	0	5334	913	32	4	7892	4	EYS	6	66045003	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	13087450	66045003	105070064	24	3267											
AUTS2	26053	genome.wustl.edu	37	chr7	70254924	70254924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaaggacctggccgccgacGagcacaaggcgaaagagggc	16	12	0	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr7:70254924G>T	ENST00000342771.4	+	19	3043	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.E884*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	908										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCCGCCGACGAGCACAAGGC	0.672																																																	0								ENSG00000158321						31	31	31					7																	70254924		2200	4300	6500	AUTS2	SO:0001587	stop_gained	0			-	HGNC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2722G>T	7.37:g.70254924G>T	ENSP00000344087:p.Glu908*	Somatic	0	20	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP							prints_AUTS2	p.E908*	ENST00000342771.4	37	c.2722	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.270267	0.99120	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	.	.	.	4.28	4.28	0.50868	.	0.201130	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6153	16.9403	0.86216	0.0:0.0:1.0:0.0	.	.	.	.	X	884;908	.	.	E	+	1	0	AUTS2	69892860	1.000000	0.71417	0.934000	0.37439	0.951000	0.60555	9.314000	0.96306	2.223000	0.72356	0.655000	0.94253	GAG	-	NULL		0.672	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	protein_coding	OTTHUMT00000251971.2	G		-		70254924	1	no_errors	ENST00000342771	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	70254924	G	T	70254924	4	4	59	1	0	0	0	0	0	1	0	0	1225	1059	37	3	2941	3	AUTS2	7	70254924	Nonsense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		70254924	88883739	25	3268											
FAM115C	285966	genome.wustl.edu	37	chr7	143417912	143417912	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagacagagtctcactctgtCatccaggttggaatgcagtg	12	9	3	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr7:143417912C>T	ENST00000441159.2	+	3	1681				FAM115C_ENST00000409703.3_Silent_p.V379V|FAM115C_ENST00000411935.1_Silent_p.V379V|FAM115C_ENST00000425618.2_Intron|FAM115C_ENST00000411497.2_Intron|FAM115C_ENST00000357344.4_Intron|FAM115C_ENST00000444908.2_Intron			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C						hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						ctcactctgtcatccaggttg	0.488																																																	0								ENSG00000170379																																			FAM115C	SO:0001627	intron_variant	0			-	HGNC	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"family with sequence similarity 139, member A"	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1615+145C>T	7.37:g.143417912C>T		Somatic	0	59	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	22	84.40	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Silent	SNP							NULL	p.V379	ENST00000441159.2	37	c.1137		7																																																																																			-	NULL		0.488	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	protein_coding	OTTHUMT00000330287.1	C	NM_173678	-		143417912	1	no_errors	ENST00000409703	ensembl	human	known	74_37	silent	SNP	0.092	T	T	143417912	C	T	143417912	1	4	59	0	1	0	0	0	0	0	0	0	5408	813	29	2		2	FAM115C	7	143417912	Intron	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	73162988	143417912	15720751	26	3269											
ENTPD4	9583	genome.wustl.edu	37	chr8	23290607	23290607	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaacaggtagtggttgtaGacaaaggaaacgccccgcca	13	9	0	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr8:23290607G>T	ENST00000358689.4	-	13	1918	c.1683C>A	c.(1681-1683)gtC>gtA	p.V561V	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Silent_p.V553V|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	561					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGTGGTTGTAGACAAAGGAAA	0.602																																																	0								ENSG00000197217						59	62	61					8																	23290607		2203	4300	6503	ENTPD4	SO:0001819	synonymous_variant	0			-	HGNC	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1683C>A	8.37:g.23290607G>T		Somatic	0	66	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	87	9.28	D3DSS3|O15092	Silent	SNP							pfam_GDA1_CD39_NTPase	p.V561	ENST00000358689.4	37	c.1683	CCDS6041.1	8																																																																																			-	NULL		0.602	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	protein_coding	OTTHUMT00000215142.1	G	NM_004901	-		23290607	-1	no_errors	ENST00000358689	ensembl	human	known	74_37	silent	SNP	1.000	T	T	23290607	G	T	23290607	2	4	59	1	0	0	0	0	0	0	0	1	5143	929	33	3		3	ENTPD4	8	23290607	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		23290607	123073415	27	3270											
RIMS2	9699	genome.wustl.edu	37	chr8	104930695	104930695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgcgaatacctgatagcaCacatgcacaactggagtcca	8	13	0	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr8:104930695C>A	ENST00000436393.2	+	7	1638	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K	RIMS2_ENST00000262231.10_Missense_Mutation_p.T543K|RIMS2_ENST00000406091.3_Missense_Mutation_p.T688K|RIMS2_ENST00000507740.1_Missense_Mutation_p.T496K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	766					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGATAGCACACATGCACAA	0.289										HNSCC(12;0.0054)																																							0								ENSG00000176406						108	106	107					8																	104930695		1818	4086	5904	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1397C>A	8.37:g.104930695C>A	ENSP00000390665:p.Thr466Lys	Somatic	0	20	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T688K	ENST00000436393.2	37	c.2063		8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161724	0.78226	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.17691	2.26;2.74;2.34;2.39;2.4;2.32;2.73	5.41	5.41	0.78517	.	.	.	.	.	T	0.18257	0.0438	N	0.24115	0.695	0.80722	D	1	B;B;P;B;B;P	0.45902	0.015;0.003;0.462;0.257;0.118;0.868	B;B;B;B;B;P	0.44673	0.011;0.016;0.211;0.139;0.075;0.457	T	0.01367	-1.1373	9	0.62326	D	0.03	.	19.1883	0.93653	0.0:1.0:0.0:0.0	.	766;766;466;543;496;688	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	K	688;719;688;766;79;496;543;496;496;466	ENSP00000427018:T688K;ENSP00000384892:T688K;ENSP00000425205:T496K;ENSP00000262231:T543K;ENSP00000423559:T496K;ENSP00000386228:T496K;ENSP00000390665:T466K	ENSP00000262231:T543K	T	+	2	0	RIMS2	104999871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.545000	0.82128	2.537000	0.85549	0.655000	0.94253	ACA	-	NULL		0.289	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	C	NM_001100117	-		104930695	1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104930695	C	A	104930695	3	1	59	1	0	0	0	0	1	0	0	0	13376	478	17	3	2223	3	RIMS2	8	104930695	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	81640088	104930695	41433327	28	3271											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110456116	110456116	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacatggctttagtaatctCccatgggctaataaggtaag	11	7	1	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr8:110456116C>T	ENST00000378402.5	+	37	4880	c.4776C>T	c.(4774-4776)ctC>ctT	p.L1592L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1592	IPT/TIG 8.				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)			TTAGTAATCTCCCATGGGCTA	0.308										HNSCC(38;0.096)																																							0								ENSG00000205038						92	88	90					8																	110456116		1818	4073	5891	PKHD1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.4776C>T	8.37:g.110456116C>T		Somatic	0	39	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	Q567P2|Q9UF27	Silent	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.L1592	ENST00000378402.5	37	c.4776	CCDS47911.1	8																																																																																			-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110456116	1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	SNP	0.689	T	T	110456116	C	T	110456116	2	4	59	1	0	0	0	0	0	0	0	1	11974	842	30	2		2	PKHD1L1	8	110456116	Silent	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	5525421	110456116	35907906	29	3272											
C10orf76	79591	genome.wustl.edu	37	chr10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	7	9	3	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(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)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000120029						125	124	124					10																	103771512		1823	4079	5902	C10orf76	SO:0001583	missense	0			-	HGNC	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.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys	Somatic	0	33	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q2TB87|Q9H8Z9	Missense_Mutation	SNP							pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	-	superfamily_ARM-type_fold		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	protein_coding	OTTHUMT00000050007.1	G	NM_024541	-		103771512	-1	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103771512	G	T	103771512	3	4	59	1	0	0	0	0	1	0	0	0	1618	1357	47	3	1334	3	C10orf76	10	103771512	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		103771512	31763235	30	3273											
NUP98	4928	genome.wustl.edu	37	chr11	3704442	3704442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactcaccagaagctaagtGtcggatgatgagcttgtggc	13	9	1	3			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:3704442G>T	ENST00000324932.7	-	30	5326	c.4906C>A	c.(4906-4908)Cac>Aac	p.H1636N	NUP98_ENST00000359171.4_Missense_Mutation_p.H1562N|NUP98_ENST00000355260.3_Missense_Mutation_p.H1562N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1653					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAAGCTAAGTGTCGGATGATG	0.507			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0								ENSG00000110713						115	97	104					11																	3704442		2201	4298	6499	NUP98	SO:0001583	missense	0			-	HGNC	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4906C>A	11.37:g.3704442G>T	ENSP00000316032:p.His1636Asn	Somatic	0	44	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP							pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.H1636N	ENST00000324932.7	37	c.4906	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.287396|4.287396	0.80803|0.80803	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260|ENST00000429801	.|.	.|.	.|.	6.14|6.14	6.14|6.14	0.99180|0.99180	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70988|0.70988	0.3287|0.3287	M|M	0.78049|0.78049	2.395|2.395	0.30121|0.30121	N|N	0.805676|0.805676	D;D;P|.	0.76494|.	0.998;0.999;0.607|.	D;D;B|.	0.79784|.	0.993;0.958;0.146|.	T|T	0.68435|0.68435	-0.5409|-0.5409	9|5	0.15499|.	T|.	0.54|.	-13.7512|-13.7512	19.8479|19.8479	0.96722|0.96722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1562;1636;1550|.	P52948-2;P52948-5;P52948-6|.	.;.;.|.	N|K	1636;1562;1562|588	.|.	ENSP00000316032:H1636N|.	H|T	-|-	1|2	0|0	NUP98|NUP98	3661018|3661018	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.980000|0.980000	0.70556|0.70556	5.398000|5.398000	0.66308|0.66308	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAC|ACA	-	NULL		0.507	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	protein_coding	OTTHUMT00000032766.3	G	NM_016320	-		3704442	-1	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	SNP	0.999	T	T	3704442	G	T	3704442	3	4	59	1	0	0	0	0	1	0	0	0	10775	1377	48	3	512	3	NUP98	11	3704442	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		3704442	131302074	31	3274											
ZP1	22917	genome.wustl.edu	37	chr11	60643004	60643004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactccaatgggaactccAgcctgagacctctcctttgg	9	14	1	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:60643004A>G	ENST00000278853.5	+	12	1792	c.1792A>G	c.(1792-1794)Agc>Ggc	p.S598G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	598					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGGAACTCCAGCCTGAGACC	0.607																																																	0								ENSG00000149506						75	61	66					11																	60643004		2203	4299	6502	ZP1	SO:0001583	missense	0			-	HGNC	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1792A>G	11.37:g.60643004A>G	ENSP00000278853:p.Ser598Gly	Somatic	0	36	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP							pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S598G	ENST00000278853.5	37	c.1792	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	A	4.590	0.109694	0.08780	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	T	0.23348	1.91	4.46	2.0	0.26442	.	1.900150	0.02600	N	0.100938	T	0.15739	0.0379	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21211	-1.0252	10	0.21014	T	0.42	-1.2978	6.7786	0.23634	0.7972:0.0:0.2028:0.0	.	598	P60852	ZP1_HUMAN	G	598;305	ENSP00000278853:S598G	ENSP00000278853:S598G	S	+	1	0	ZP1	60399580	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.308000	0.19314	0.267000	0.21916	0.533000	0.62120	AGC	-	NULL		0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	protein_coding	OTTHUMT00000396329.1	A	NM_207341	-		60643004	1	no_errors	ENST00000278853	ensembl	human	known	74_37	missense	SNP	0.000	G	G	60643004	A	G	60643004	3	3	59	1	0	0	0	0	1	0	0	0	18222	188	7	5	1838	5	ZP1	11	60643004	Missense_Mutation	SNP	A	TCGA-DX-A48L-01A-11D-A307-09	56938562	60643004	74363512	32	3275											
DAK	26007	genome.wustl.edu	37	chr11	61113888	61113888	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccggaagagccagttatatCagctcagcacggctggagca	13	11	2	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:61113888C>T	ENST00000394900.3	+	18	1870	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	547	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCAGTTATATCAGCTCAGCAC	0.632																																																	0								ENSG00000149476						71	83	79					11																	61113888		2203	4299	6502	DAK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1641C>T	11.37:g.61113888C>T		Somatic	0	22	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	23	50.00	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP							pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP	p.I547	ENST00000394900.3	37	c.1641	CCDS8003.1	11																																																																																			-	pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP		0.632	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	protein_coding	OTTHUMT00000394425.4	C	NM_015533	-		61113888	1	no_errors	ENST00000394900	ensembl	human	known	74_37	silent	SNP	1.000	T	T	61113888	C	T	61113888	2	4	59	1	0	0	0	0	0	0	0	1	4230	816	29	2		2	DAK	11	61113888	Silent	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	470884	61113888	73892628	33	3276											
TPCN2	219931	genome.wustl.edu	37	chr11	68839473	68839473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctccatggtgggggaggGaggagccttccctcaggcgt	16	11	1	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:68839473G>A	ENST00000294309.3	+	11	1144	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	TPCN2_ENST00000542467.1_Missense_Mutation_p.G348E|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	348					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGGGGGAGGGAGGAGCCTTC	0.627																																																	0								ENSG00000162341						52	56	54					11																	68839473		2200	4294	6494	TPCN2	SO:0001583	missense	0			-	HGNC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1043G>A	11.37:g.68839473G>A	ENSP00000294309:p.Gly348Glu	Somatic	0	31	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17	Q9NT82	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.G348E	ENST00000294309.3	37	c.1043	CCDS8189.1	11	.	.	.	.	.	.	.	.	.	.	G	4.184	0.032846	0.08101	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97041	-4.22;-4.22	4.27	-3.25	0.05079	.	1.589960	0.03662	N	0.242756	D	0.94235	0.8149	L	0.56769	1.78	0.09310	N	1	B;B;B	0.18741	0.018;0.002;0.03	B;B;B	0.13407	0.008;0.002;0.009	D	0.84221	0.0461	10	0.18710	T	0.47	0.506	6.5814	0.22596	0.3021:0.4946:0.2033:0.0	.	348;348;263	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	E	278;348;263;348	ENSP00000294309:G348E;ENSP00000445551:G348E	ENSP00000294309:G348E	G	+	2	0	TPCN2	68596049	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.578000	0.05841	-0.373000	0.07979	-1.263000	0.01449	GGA	-	NULL		0.627	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	protein_coding	OTTHUMT00000396878.2	G	NM_139075	-		68839473	1	no_errors	ENST00000294309	ensembl	human	known	74_37	missense	SNP	0.000	A	A	68839473	G	A	68839473	3	1	59	1	0	0	0	0	1	0	0	0	16403	1174	41	2	1085	2	TPCN2	11	68839473	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	7725585	68839473	66167043	34	3277											
GLB1L2	89944	genome.wustl.edu	37	chr11	134241002	134241002	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctatgagaccagcatcacctCgtctggcatcctcagtggcc	9	15	3	1	rs561326208	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:134241002C>A	ENST00000535456.2	+	13	1504	c.1316C>A	c.(1315-1317)tCg>tAg	p.S439*	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.S439*|GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.S439*	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	439					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGCATCACCTCGTCTGGCATC	0.527																																																	0								ENSG00000149328						139	132	134					11																	134241002		2201	4297	6498	GLB1L2	SO:0001587	stop_gained	0			-	HGNC		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1316C>A	11.37:g.134241002C>A	ENSP00000444628:p.Ser439*	Somatic	0	30	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	2	92.00	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP							pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.S439*	ENST00000535456.2	37	c.1316	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219224	0.58560	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	.	.	.	5.77	1.54	0.23209	.	0.791393	0.11785	N	0.529800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-0.806	7.9231	0.29859	0.4021:0.372:0.2259:0.0	.	.	.	.	X	439	.	ENSP00000344659:S439X	S	+	2	0	GLB1L2	133746212	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.513000	0.22770	0.868000	0.35678	-1.014000	0.02459	TCG	-	NULL		0.527	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	protein_coding	OTTHUMT00000393629.2	C	NM_138342	-		134241002	1	no_errors	ENST00000339772	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	134241002	C	A	134241002	4	1	59	1	0	0	0	0	0	1	0	0	6431	893	31	3	1366	3	GLB1L2	11	134241002	Nonsense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	65401529	134241002	765514	35	3278											
UTP20	27340	genome.wustl.edu	37	chr12	101748897	101748897	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaatgccttgcatctacgGtaataaatttattcggggtc	8	7	1	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr12:101748897G>T	ENST00000261637.4	+	41	5568		c.e41+1			NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCATCTACGGTAATAAATTT	0.423																																																	0								ENSG00000120800						39	40	39					12																	101748897		2189	4294	6483	UTP20	SO:0001630	splice_region_variant	0			-	HGNC	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5394+1G>T	12.37:g.101748897G>T		Somatic	0	21	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q9H3H4	Splice_Site	SNP							-	e41+1	ENST00000261637.4	37	c.5394+1	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221144	0.39201	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP20	100273028	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	6.593000	0.74100	2.733000	0.93635	0.655000	0.94253	.	-	-		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	protein_coding	OTTHUMT00000408242.1	G	NM_014503	-	Intron	101748897	1	no_errors	ENST00000261637	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	101748897	G	T	101748897	5	4	59	1	0	0	0	0	0	0	1	0	17106	1275	44	3	5557	3	UTP20	12	101748897	Splice_Site	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		101748897	32102998	36	3279											
WDR66	144406	genome.wustl.edu	37	chr12	122359408	122359408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaggggaggaggaggGgaaggaggacaaaaagattg	22	1	0	1	rs12824001		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr12:122359408G>A	ENST00000288912.4	+	2	1051	c.197G>A	c.(196-198)gGg>gAg	p.G66E	WDR66_ENST00000397454.2_Missense_Mutation_p.G66E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	66	Glu-rich.		G -> E (in dbSNP:rs12824001).				calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		gaggaggaggggaaggaggaC	0.488																																					Esophageal Squamous(85;849 1794 49757 52143)												0								ENSG00000158023						61	66	65					12																	122359408		1958	4133	6091	WDR66	SO:0001583	missense	0			-	HGNC	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.197G>A	12.37:g.122359408G>A	ENSP00000288912:p.Gly66Glu	Somatic	0	8	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G66E	ENST00000288912.4	37	c.197	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863179	0.00552	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.16457	2.34;2.34	1.28	1.28	0.21552	.	.	.	.	.	T	0.07234	0.0183	N	0.24115	0.695	0.80722	P	0.0	D	0.53885	0.963	B	0.38954	0.286	T	0.08269	-1.0730	8	0.02654	T	1	.	5.9748	0.19373	0.0:0.0:1.0:0.0	rs12824001	66	Q8TBY9	WDR66_HUMAN	E	66	ENSP00000288912:G66E;ENSP00000380595:G66E	ENSP00000288912:G66E	G	+	2	0	WDR66	120843791	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.755000	0.04782	1.057000	0.40506	0.313000	0.20887	GGG	-	NULL		0.488	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	protein_coding	OTTHUMT00000401700.1	G	NM_144668	rs12824001		122359408	1	no_errors	ENST00000288912	ensembl	human	known	74_37	missense	SNP	0.003	A	A	122359408	G	A	122359408	3	1	59	1	0	0	0	0	1	0	0	0	17324	1232	43	2	199	2	WDR66	12	122359408	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	20610511	122359408	11492487	37	3280											
B3GALTL	145173	genome.wustl.edu	37	chr13	31797114	31797114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaaagtggtatatcaaGgaaaaatgacataggtaagt	12	2	1	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr13:31797114G>T	ENST00000343307.4	+	3	295	c.146G>T	c.(145-147)aGg>aTg	p.R49M		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	49					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GGTATATCAAGGAAAAATGAC	0.294																																																	0								ENSG00000187676						122	117	119					13																	31797114		2202	4300	6502	B3GALTL	SO:0001583	missense	0			-	HGNC	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.146G>T	13.37:g.31797114G>T	ENSP00000343002:p.Arg49Met	Somatic	0	34	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP							pfam_Fringe-like	p.R49M	ENST00000343307.4	37	c.146	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	G	3.551	-0.091736	0.07053	.	.	ENSG00000187676	ENST00000343307	T	0.72505	-0.66	5.56	2.77	0.32553	.	0.602522	0.16653	N	0.205142	T	0.44414	0.1292	N	0.08118	0	0.09310	N	1	P	0.39576	0.679	B	0.34722	0.188	T	0.32745	-0.9895	10	0.52906	T	0.07	-5.4195	5.5471	0.17069	0.182:0.1614:0.6566:0.0	.	49	Q6Y288	B3GLT_HUMAN	M	49	ENSP00000343002:R49M	ENSP00000343002:R49M	R	+	2	0	B3GALTL	30695114	0.681000	0.27614	0.000000	0.03702	0.053000	0.15095	1.137000	0.31479	0.335000	0.23614	0.655000	0.94253	AGG	-	NULL		0.294	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	protein_coding	OTTHUMT00000044396.3	G	NM_194318	-		31797114	1	no_errors	ENST00000343307	ensembl	human	known	74_37	missense	SNP	0.002	T	T	31797114	G	T	31797114	3	4	59	1	0	0	0	0	1	0	0	0	1252	1000	35	3	156	3	B3GALTL	13	31797114	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		31797114	83372764	38	3281											
RB1	5925	genome.wustl.edu	37	chr13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-													tctgaatgacaacatttttcAtatgtctttattggcgtgcg					rs367661403		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AACATTTTTCATATGTCTTTAT	0.238		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CI030637|CI071455|CM016043	RB1	I|M		ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs	Somatic	0	33	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	2	92.59	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.M484fs	ENST00000267163.4	37	c.1448_1449	CCDS31973.1	13																																																																																			-	pfam_RB_A,superfamily_Cyclin-like		0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	AT				48954328	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	48954328	AT	-	48954327	7	5	59	1	0	1	0	1	0	0	0	0	13106	217	8	0	1510	0	RB1	13	48954327	Frame_Shift_Del	DEL	AT	TCGA-DX-A48L-01A-11D-A307-09	17157213	48954327	66215551	39	3282											
CEBPE	1053	genome.wustl.edu	37	chr14	23586911	23586911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatgttgttgcgctcccGcctcagccggtactcaaggc	13	14	2	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr14:23586911G>A	ENST00000206513.5	-	2	1155	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	211	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)		TTGCGCTCCCGCCTCAGCCGG	0.617																																					NSCLC(63;1230 1818 14565 22565)												0								ENSG00000092067						64	63	63					14																	23586911		2203	4300	6503	CEBPE	SO:0001583	missense	0			-	HGNC		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.631C>T	14.37:g.23586911G>A	ENSP00000206513:p.Arg211Trp	Somatic	0	62	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	61	50.39	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP							pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.R211W	ENST00000206513.5	37	c.631	CCDS9589.1	14	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271216	0.80469	.	.	ENSG00000092067	ENST00000206513	T	0.71934	-0.61	5.2	3.19	0.36642	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	H	0.96301	3.8	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.90741	0.4650	10	0.87932	D	0	-20.5285	12.485	0.55868	0.0:0.0:0.6971:0.3029	.	211	Q15744	CEBPE_HUMAN	W	211	ENSP00000206513:R211W	ENSP00000206513:R211W	R	-	1	2	CEBPE	22656751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.937000	0.28951	1.137000	0.42214	0.655000	0.94253	CGG	-	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP		0.617	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPE	protein_coding	OTTHUMT00000071716.2	G	NM_001805	-		23586911	-1	no_errors	ENST00000206513	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23586911	G	A	23586911	3	1	59	1	0	0	0	0	1	0	0	0	3204	1086	38	1	218	1	CEBPE	14	23586911	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		23586911	83762629	40	3283											
SLC22A17	51310	genome.wustl.edu	37	chr14	23818512	23818512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacccaggtcaacaccggcAagcagaaagcccaagaggaa	10	13	1	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr14:23818512A>G	ENST00000206544.8	-	3	831	c.495T>C	c.(493-495)ctT>ctC	p.L165L	SLC22A17_ENST00000397267.1_Silent_p.L165L|SLC22A17_ENST00000354772.3_Silent_p.L165L|SLC22A17_ENST00000397260.3_Silent_p.L54L|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	165					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAACACCGGCAAGCAGAAAGC	0.627																																																	0								ENSG00000092096						67	61	63					14																	23818512		2203	4300	6503	SLC22A17	SO:0001819	synonymous_variant	0			-	HGNC	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.495T>C	14.37:g.23818512A>G		Somatic	0	20	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	15	59.46	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L165	ENST00000206544.8	37	c.495	CCDS9593.1	14																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.627	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	protein_coding	OTTHUMT00000157223.3	A	NM_020372	-		23818512	-1	no_errors	ENST00000206544	ensembl	human	known	74_37	silent	SNP	0.952	G	G	23818512	A	G	23818512	2	3	59	1	0	0	0	0	0	0	0	1	14456	117	5	5		5	SLC22A17	14	23818512	Silent	SNP	A	TCGA-DX-A48L-01A-11D-A307-09	231601	23818512	83531028	41	3284											
MAP4K5	11183	genome.wustl.edu	37	chr14	50952895	50952895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaatatttcttgttgaaTcaaagaaaaatcatctcctg	4	7	4	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr14:50952895T>C	ENST00000013125.4	-	4	502	c.184A>G	c.(184-186)Att>Gtt	p.I62V	MAP4K5_ENST00000557578.1_5'Flank	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TCTTGTTGAATCAAAGAAAAA	0.284																																																	0								ENSG00000012983						58	53	54					14																	50952895		1781	3979	5760	MAP4K5	SO:0001583	missense	0			-	HGNC	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.184A>G	14.37:g.50952895T>C	ENSP00000013125:p.Ile62Val	Somatic	0	23	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	Q8IYF6	Missense_Mutation	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I62V	ENST00000013125.4	37	c.184		14	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321213	0.41096	.	.	ENSG00000012983	ENST00000013125;ENST00000557390	T;T	0.65549	-0.16;1.86	5.26	5.26	0.73747	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	0.66167	0.2762	N	0.17674	0.51	0.80722	D	1	B;D	0.53151	0.136;0.958	B;D	0.70716	0.173;0.97	T	0.67776	-0.5583	10	0.41790	T	0.15	.	14.8269	0.70120	0.0:0.0:0.0:1.0	.	62;62	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	62	ENSP00000013125:I62V;ENSP00000451980:I62V	ENSP00000013125:I62V	I	-	1	0	MAP4K5	50022645	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.473000	0.60196	1.998000	0.58463	0.482000	0.46254	ATT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	protein_coding	OTTHUMT00000410880.1	T	NM_006575	-		50952895	-1	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50952895	T	C	50952895	3	2	59	1	0	0	0	0	1	0	0	0	9265	1435	50	5	2472	5	MAP4K5	14	50952895	Missense_Mutation	SNP	T	TCGA-DX-A48L-01A-11D-A307-09	27134383	50952895	56396645	42	3285											
PIAS1	8554	genome.wustl.edu	37	chr15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaatggcgtggaaccaaagcGacccagccgaccaattaata	9	11	0	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000033800						114	108	110					15																	68438944		1832	4072	5904	PIAS1	SO:0001583	missense	0			-	HGNC	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu	Somatic	0	33	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP							pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	-	NULL		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	protein_coding	OTTHUMT00000419642.2	G		-		68438944	1	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68438944	G	T	68438944	3	4	59	1	0	0	0	0	1	0	0	0	11877	1058	37	3	756	3	PIAS1	15	68438944	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		68438944	34092448	43	3286											
PKD1	5310	genome.wustl.edu	37	chr16	2159518	2159520	+	In_Frame_Del	DEL	CCG	CCG	-													caggcccacgatgggctcctCcgccgtgaggttgtacgtgg					rs370043391		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	CCG	CCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr16:2159518_2159520delCCG	ENST00000262304.4	-	15	5856_5858	c.5648_5650delCGG	c.(5647-5652)gcggag>gag	p.A1883del	PKD1_ENST00000423118.1_In_Frame_Del_p.A1883del|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1883	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGGCTCCTCCGCCGTGAGGTT	0.64																																																	0								ENSG00000008710																																			PKD1	SO:0001651	inframe_deletion	0				HGNC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5648_5650delCGG	16.37:g.2159521_2159523delCCG	ENSP00000262304:p.Ala1883del	Somatic	0	63	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	Q15140|Q15141	In_Frame_Del	DEL							pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A1883in_frame_del	ENST00000262304.4	37	c.5650_5648	CCDS32369.1	16																																																																																			-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.64	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	CCG				2159520	-1	no_errors	ENST00000262304	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	2159520	CCG	-	2159518	7	5	59	1	0	1	0	1	0	0	0	0	11965	864	30	0	7389	0	PKD1	16	2159518	In_Frame_Del	DEL	CCG	TCGA-DX-A48L-01A-11D-A307-09		2159518	88195235	44	3287											
ABCC12	94160	genome.wustl.edu	37	chr16	48149490	48149490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccaggctaatcctctGcctctgccccccagagaggt	12	16	2	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr16:48149490G>T	ENST00000311303.3	-	13	2170	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	ABCC12_ENST00000448542.1_Missense_Mutation_p.Q609K|ABCC12_ENST00000416054.1_Silent_p.G584G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	609	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTAATCCTCTGCCTCTGCCCC	0.637																																																	0								ENSG00000140798						50	46	48					16																	48149490		2201	4300	6501	ABCC12	SO:0001583	missense	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1825C>A	16.37:g.48149490G>T	ENSP00000311030:p.Gln609Lys	Somatic	0	32	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q609K	ENST00000311303.3	37	c.1825	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684884	0.88639	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.93547	-3.24;-3.24	5.09	5.09	0.68999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97690	1.0178	10	0.72032	D	0.01	.	17.6475	0.88152	0.0:0.0:1.0:0.0	.	609	Q96J65	MRP9_HUMAN	K	609;609;551	ENSP00000311030:Q609K;ENSP00000401855:Q609K	ENSP00000311030:Q609K	Q	-	1	0	ABCC12	46706991	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.400000	0.97290	2.512000	0.84698	0.563000	0.77884	CAG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.637	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	G	NM_033226	-		48149490	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48149490	G	T	48149490	3	4	59	1	0	0	0	0	1	0	0	0	52	1328	46	3	2322	3	ABCC12	16	48149490	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	45989972	48149490	42205263	45	3288											
PHF23	79142	genome.wustl.edu	37	chr17	7139463	7139464	+	In_Frame_Ins	INS	-	-	TCTTCTTCT													cccctaccactgttgccatcINStcttcttcttcttcctcttc							TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:7139463_7139464insTCTTCTTCT	ENST00000320316.3	-	4	1008_1009	c.782_783insAGAAGAAGA	c.(781-783)gag>gaAGAAGAAGAg	p.261_261E>EEEE	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_In_Frame_Ins_p.194_194E>EEEE|PHF23_ENST00000454255.2_In_Frame_Ins_p.257_257E>EEEE|PHF23_ENST00000576955.1_In_Frame_Ins_p.131_131E>EEEE|DVL2_ENST00000575458.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CTGTTGCCATCtcttcttcttc	0.624																																																	0								ENSG00000040633																																			PHF23	SO:0001652	inframe_insertion	0				HGNC	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.774_782dupAGAAGAAGA	17.37:g.7139464_7139472dupTCTTCTTCT	ENSP00000322579:p.GluGluGlu261dup	Somatic					0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	In_Frame_Ins	INS							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.262in_frame_insEEE	ENST00000320316.3	37	c.783_782	CCDS42250.1	17																																																																																			-	NULL		0.624	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	protein_coding	OTTHUMT00000440047.1	-	NM_024297			7139464	-1	no_errors	ENST00000320316	ensembl	human	known	74_37	in_frame_ins	INS	0.339:0.962	TCTTCTTCT	TCTTCTTCT	7139464	-	TCTTCTTCT	7139463	7	5	59	1	0	1	1	0	0	0	0	0	11837	912	32	0	436	0	PHF23	17	7139463	In_Frame_Ins	INS	-	TCGA-DX-A48L-01A-11D-A307-09		7139463	74055747	46	3289											
WRAP53	55135	genome.wustl.edu	37	chr17	7592045	7592045	+	Frame_Shift_Del	DEL	C	C	-													cagctccagcccatccttctCcccacgcttccccgatgaat							TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:7592045delC	ENST00000316024.5	+	1	2427	c.79delC	c.(79-81)cccfs	p.P27fs	WRAP53_ENST00000431639.2_Frame_Shift_Del_p.P27fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.P27fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.P27fs|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.P27fs|RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000455263.2_5'Flank|TP53_ENST00000445888.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	27	Pro-rich.				positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCATCCTTCTCCCCACGCTTC	0.592																																																	0								ENSG00000141499						67	74	72					17																	7592045		2203	4300	6503	WRAP53	SO:0001589	frameshift_variant	0				HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.79delC	17.37:g.7592045delC	ENSP00000324203:p.Pro27fs	Somatic	0	28	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	267	19	93.36	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H28fs	ENST00000316024.5	37	c.79	CCDS11119.1	17																																																																																			-	NULL		0.592	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	C	NM_018081			7592045	1	no_errors	ENST00000316024	ensembl	human	known	74_37	frame_shift_del	DEL	0.345	-	-	7592045	C	-	7592045	7	5	59	1	0	1	0	1	0	0	0	0	17407	855	30	0	81	0	WRAP53	17	7592045	Frame_Shift_Del	DEL	C	TCGA-DX-A48L-01A-11D-A307-09	452582	7592045	73603165	47	3290											
WRAP53	55135	genome.wustl.edu	37	chr17	7592319	7592319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctttctgaagaagaagCgaacgggccagagttggggt	16	7	1	4			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:7592319C>T	ENST00000316024.5	+	1	2701	c.353C>T	c.(352-354)gCg>gTg	p.A118V	WRAP53_ENST00000431639.2_Missense_Mutation_p.A118V|WRAP53_ENST00000457584.2_Missense_Mutation_p.A118V|WRAP53_ENST00000534050.1_Missense_Mutation_p.A118V|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000396463.2_Missense_Mutation_p.A118V|RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000455263.2_5'Flank|TP53_ENST00000445888.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	118					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GAAGAAGAAGCGAACGGGCCA	0.532																																																	0								ENSG00000141499						68	77	74					17																	7592319		2203	4300	6503	WRAP53	SO:0001583	missense	0			-	HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.353C>T	17.37:g.7592319C>T	ENSP00000324203:p.Ala118Val	Somatic	0	19	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	2	96.00	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A118V	ENST00000316024.5	37	c.353	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966460	0.34659	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.78	5.41	0.942	0.19525	.	0.922668	0.09125	N	0.845143	T	0.23926	0.0579	N	0.03608	-0.345	0.09310	N	1	B;B	0.21147	0.0;0.052	B;B	0.12156	0.0;0.007	T	0.22661	-1.0210	10	0.15499	T	0.54	.	5.4443	0.16527	0.0:0.4808:0.3396:0.1795	.	118;118	E9PMG4;Q9BUR4	.;WAP53_HUMAN	V	118	ENSP00000397219:A118V;ENSP00000324203:A118V;ENSP00000411061:A118V;ENSP00000379727:A118V;ENSP00000434999:A118V	ENSP00000324203:A118V	A	+	2	0	WRAP53	7533044	0.001000	0.12720	0.014000	0.15608	0.124000	0.20399	-1.589000	0.02104	0.403000	0.25479	-0.244000	0.11960	GCG	-	NULL		0.532	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	C	NM_018081	-		7592319	1	no_errors	ENST00000316024	ensembl	human	known	74_37	missense	SNP	0.000	T	T	7592319	C	T	7592319	3	4	59	1	0	0	0	0	1	0	0	0	17407	768	27	1	355	1	WRAP53	17	7592319	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	274	7592319	73602891	48	3291											
CYTSB	92521	genome.wustl.edu	37	chr17	20209353	20209353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaggaatctcttgttGgcatttgaagcggctgaaag	13	5	1	4			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:20209353G>T	ENST00000261503.5	+	14	3126	c.3075G>T	c.(3073-3075)ttG>ttT	p.L1025F	SPECC1_ENST00000395530.2_Missense_Mutation_p.L944F|SPECC1_ENST00000395527.4_Missense_Mutation_p.L1025F|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.L365F	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1025	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATCTCTTGTTGGCATTTGAAG	0.353																																																	0								ENSG00000128487						151	145	147					17																	20209353		2203	4300	6503	SPECC1	SO:0001583	missense	0			-	HGNC	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.3075G>T	17.37:g.20209353G>T	ENSP00000261503:p.Leu1025Phe	Somatic	0	33	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP							pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.L1025F	ENST00000261503.5	37	c.3075	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786076	0.49997	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;D	0.96011	-3.88;-3.88	4.36	3.3	0.37823	Calponin homology domain (5);	0.183072	0.36740	N	0.002439	D	0.97281	0.9111	M	0.87328	2.875	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96420	0.9311	10	0.87932	D	0	-6.978	7.2259	0.26016	0.1465:0.0:0.8535:0.0	.	986;944;1025	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	F	986;1025;365;944	ENSP00000261503:L1025F;ENSP00000438294:L365F	ENSP00000261503:L1025F	L	+	3	2	SPECC1	20149945	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.087000	0.41653	0.811000	0.34303	0.462000	0.41574	TTG	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.353	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	protein_coding	OTTHUMT00000441206.1	G	NM_152904	-		20209353	1	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20209353	G	T	20209353	3	4	59	1	0	0	0	0	1	0	0	0	4212	1339	47	3	3195	3	CYTSB	17	20209353	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	12617034	20209353	60985857	49	3292											
CDK5R1	8851	genome.wustl.edu	37	chr17	30815527	30815527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaacgagagcggccaggagGacaagaagcggctcctccta	14	11	0	3			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:30815527G>T	ENST00000313401.3	+	2	1578	c.889G>T	c.(889-891)Gac>Tac	p.D297Y		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	297					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGGCCAGGAGGACAAGAAGCG	0.483																																																	0								ENSG00000176749						56	60	58					17																	30815527		2203	4300	6503	CDK5R1	SO:0001583	missense	0			-	HGNC	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.889G>T	17.37:g.30815527G>T	ENSP00000318486:p.Asp297Tyr	Somatic	0	42	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	E1P664|Q5U0G3	Missense_Mutation	SNP							pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.D297Y	ENST00000313401.3	37	c.889	CCDS11273.1	17	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376658	0.61735	.	.	ENSG00000176749	ENST00000313401	T	0.79141	-1.24	5.55	5.55	0.83447	Cyclin-like (1);	0.057360	0.64402	D	0.000002	D	0.82499	0.5050	L	0.34521	1.04	0.58432	D	0.999997	D;P	0.89917	1.0;0.742	D;B	0.68192	0.956;0.367	D	0.84338	0.0525	10	0.87932	D	0	-8.9213	16.9953	0.86366	0.0:0.0:1.0:0.0	.	297;297	Q8N619;Q15078	.;CD5R1_HUMAN	Y	297	ENSP00000318486:D297Y	ENSP00000318486:D297Y	D	+	1	0	CDK5R1	27839640	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.804000	0.99143	2.609000	0.88269	0.557000	0.71058	GAC	-	pirsf_CDK5_activator		0.483	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	protein_coding	OTTHUMT00000256264.1	G	NM_003885	-		30815527	1	no_errors	ENST00000313401	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30815527	G	T	30815527	3	4	59	1	0	0	0	0	1	0	0	0	3145	1174	41	3	891	3	CDK5R1	17	30815527	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	10606174	30815527	50379683	50	3293			1	42		2	2	12	G		2.451779e-05
CDK5R1	8851	genome.wustl.edu	37	chr17	30815538	30815538	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggaggacaagaagcgGctcctcctaggcctggatcg	15	12	0	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:30815538G>T	ENST00000313401.3	+	2	1589	c.900G>T	c.(898-900)cgG>cgT	p.R300R		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	300					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			ACAAGAAGCGGCTCCTCCTAG	0.478																																																	0								ENSG00000176749						52	55	54					17																	30815538		2203	4300	6503	CDK5R1	SO:0001819	synonymous_variant	0			-	HGNC	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.900G>T	17.37:g.30815538G>T		Somatic	0	49	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	E1P664|Q5U0G3	Silent	SNP							pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.R300	ENST00000313401.3	37	c.900	CCDS11273.1	17																																																																																			-	pirsf_CDK5_activator		0.478	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	protein_coding	OTTHUMT00000256264.1	G	NM_003885	-		30815538	1	no_errors	ENST00000313401	ensembl	human	known	74_37	silent	SNP	1.000	T	T	30815538	G	T	30815538	2	4	59	1	0	0	0	0	0	0	0	1	3145	1190	42	3		3	CDK5R1	17	30815538	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	11	30815538	50379672	51	3294			1	42		2	2	12	G		2.451779e-05
KPNB1	3837	genome.wustl.edu	37	chr17	45750492	45750492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccagaaaacgactttGgtcatcatggaacgactgca	10	10	2	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:45750492G>T	ENST00000290158.4	+	13	2063	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	KPNB1_ENST00000537679.1_Missense_Mutation_p.L336F|KPNB1_ENST00000540627.1_Missense_Mutation_p.L407F|KPNB1_ENST00000535458.2_Missense_Mutation_p.L407F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	552					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L552F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAACGACTTTGGTCATCATGG	0.463																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000108424						125	119	121					17																	45750492		2203	4300	6503	KPNB1	SO:0001583	missense	0			-	HGNC	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1656G>T	17.37:g.45750492G>T	ENSP00000290158:p.Leu552Phe	Somatic	0	49	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP							pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.L552F	ENST00000290158.4	37	c.1656	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.52	-2.18	0.07037	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	L	0.50333	1.59	0.38797	D	0.955109	P;P	0.46784	0.884;0.776	B;B	0.40782	0.34;0.198	T	0.60301	-0.7290	9	0.56958	D	0.05	-16.5928	7.3697	0.26794	0.4933:0.1129:0.3938:0.0	.	336;552	F5H4R7;Q14974	.;IMB1_HUMAN	F	407;552;407;336	ENSP00000438253:L407F;ENSP00000290158:L552F;ENSP00000438964:L407F;ENSP00000445006:L336F	ENSP00000290158:L552F	L	+	3	2	KPNB1	43105491	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.490000	0.35573	-0.010000	0.14271	0.655000	0.94253	TTG	-	superfamily_ARM-type_fold		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	protein_coding	OTTHUMT00000089755.2	G	NM_002265	-		45750492	1	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	SNP	0.952	T	T	45750492	G	T	45750492	3	4	59	1	0	0	0	0	1	0	0	0	8437	1339	47	3	1706	3	KPNB1	17	45750492	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	14934954	45750492	35444718	52	3295											
YES1	7525	genome.wustl.edu	37	chr18	736829	736829	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgctgtgtattcatTgtcttcaattaaccttgcta	6	8	4	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:736829T>A	ENST00000584307.1	-	10	1440	c.1270A>T	c.(1270-1272)Aat>Tat	p.N424Y	RP11-769O8.2_ENST00000579595.1_RNA|RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000314574.4_Missense_Mutation_p.N424Y|RP11-769O8.3_ENST00000581712.1_RNA|YES1_ENST00000577961.1_Missense_Mutation_p.N429Y			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GTGTATTCATTGTCTTCAATT	0.353																																																	0								ENSG00000176105						107	93	98					18																	736829		2202	4298	6500	YES1	SO:0001583	missense	0			-	HGNC	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1270A>T	18.37:g.736829T>A	ENSP00000462468:p.Asn424Tyr	Somatic	0	34	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	26	56.67	A6NLB3|D3DUH1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.N424Y	ENST00000584307.1	37	c.1270	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	T	25.0	4.597495	0.87055	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83075	-1.68	5.26	5.26	0.73747	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	0.88962	0.6580	M	0.73598	2.24	0.80722	D	1	D	0.55385	0.971	P	0.57244	0.816	D	0.90485	0.4463	10	0.87932	D	0	.	15.4771	0.75489	0.0:0.0:0.0:1.0	.	424	P07947	YES_HUMAN	Y	424	ENSP00000324740:N424Y	ENSP00000324740:N424Y	N	-	1	0	YES1	726829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.194000	0.72082	2.116000	0.64780	0.528000	0.53228	AAT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.353	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	protein_coding	OTTHUMT00000440827.2	T	NM_005433	-		736829	-1	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	736829	T	A	736829	3	1	59	1	0	0	0	0	1	0	0	0	17481	1812	63	5	373	5	YES1	18	736829	Missense_Mutation	SNP	T	TCGA-DX-A48L-01A-11D-A307-09		736829	77340419	53	3296											
RBBP8	5932	genome.wustl.edu	37	chr18	20596862	20596862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaagaaaactgcttgGgcacacgtgtaaggaatgtg	15	5	0	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:20596862G>T	ENST00000399722.2	+	17	2780	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.G810V|RBBP8_ENST00000360790.5_Missense_Mutation_p.G815V|RBBP8_ENST00000399725.2_Intron	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	810					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.G810V(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAACTGCTTGGGCACACGTGT	0.318								Homologous recombination																																									1	Substitution - Missense(1)	endometrium(1)						ENSG00000101773						107	109	108					18																	20596862		2203	4300	6503	RBBP8	SO:0001583	missense	0			-	HGNC	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2429G>T	18.37:g.20596862G>T	ENSP00000382628:p.Gly810Val	Somatic	0	32	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP							pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.G810V	ENST00000399722.2	37	c.2429	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093801	0.76870	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.63096	-0.02;-0.02;-0.01	5.33	4.46	0.54185	.	0.110694	0.64402	D	0.000008	T	0.80783	0.4689	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84031	0.0359	10	0.87932	D	0	-7.3178	13.0342	0.58860	0.0777:0.0:0.9223:0.0	.	815;810	E7ETY1;Q99708	.;COM1_HUMAN	V	810;810;815	ENSP00000323050:G810V;ENSP00000382628:G810V;ENSP00000354024:G815V	ENSP00000323050:G810V	G	+	2	0	RBBP8	18850860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	1.253000	0.44018	0.637000	0.83480	GGG	-	pfam_DNA-repair_Sae2/CtIP		0.318	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	protein_coding	OTTHUMT00000446387.1	G	NM_203291	-		20596862	1	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20596862	G	T	20596862	3	4	59	1	0	0	0	0	1	0	0	0	13113	1232	43	3	2491	3	RBBP8	18	20596862	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	19860033	20596862	57480386	54	3297											
CABLES1	91768	genome.wustl.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-													agggcggcgcggccaagccgGgcgccggcggcgcctgcggc					rs201595073|rs139352344	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	GGCGCCGGC	GGCGCCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137																0								ENSG00000134508																																			CABLES1	SO:0001651	inframe_deletion	0				HGNC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del	Somatic					0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL							pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.GGA99in_frame_del	ENST00000256925.7	37	c.289_297	CCDS42417.1	18																																																																																			-	pirsf_Cdk5/c-Abl_linker_Cables		0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	protein_coding	OTTHUMT00000445198.2	GGCGCCGGC	NM_138375			20716023	1	no_errors	ENST00000256925	ensembl	human	known	74_37	in_frame_del	DEL	0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997	-	-	20716023	GGCGCCGGC	-	20716015	7	5	59	1	0	1	0	1	0	0	0	0	2531	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-DX-A48L-01A-11D-A307-09	119153	20716015	57361233	55	3298											
RHPN2	85415	genome.wustl.edu	37	chr19	33487092	33487092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccgcaccgactcctcGtgatgagccatggctctgcg	11	17	1	2	rs374714452		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr19:33487092G>A	ENST00000254260.3	-	11	1295	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	RHPN2_ENST00000400226.4_Silent_p.H269H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	420	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCGACTCCTCGTGATGAGCCA	0.617																																																	0								ENSG00000131941	G		1,4405	2.1+/-5.4	0,1,2202	51	48	49		1260	2.4	1	19		49	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		420/687	33487092	1,13005	2203	4300	6503	RHPN2	SO:0001819	synonymous_variant	0			-	HGNC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1260C>T	19.37:g.33487092G>A		Somatic	0	28	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP							pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.H420	ENST00000254260.3	37	c.1260	CCDS12427.1	19																																																																																			-	pfam_BRO1_dom,pfscan_BRO1_dom		0.617	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	protein_coding	OTTHUMT00000450828.2	G	NM_033103	-		33487092	-1	no_errors	ENST00000254260	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33487092	G	A	33487092	2	1	59	1	0	0	0	0	0	0	0	1	13359	1136	40	1		1	RHPN2	19	33487092	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		33487092	25641891	56	3299											
TSKS	60385	genome.wustl.edu	37	chr19	50249932	50249932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggccagcctccggctTctgcttctcctccggctcct	11	17	2	1	rs550916960|rs59626794	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr19:50249932T>C	ENST00000246801.3	-	6	869	c.787A>G	c.(787-789)Aag>Gag	p.K263E	TSKS_ENST00000358830.3_Missense_Mutation_p.K63E	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	263					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)		Gcctccggcttctgcttctcc	0.721																																																	0								ENSG00000126467						13	14	13					19																	50249932		2191	4282	6473	TSKS	SO:0001583	missense	0			-	HGNC	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.787A>G	19.37:g.50249932T>C	ENSP00000246801:p.Lys263Glu	Somatic	0	16	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q8WXJ0	Missense_Mutation	SNP							NULL	p.K263E	ENST00000246801.3	37	c.787	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935057	0.52866	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.34275	1.37;1.37	4.78	3.71	0.42584	.	0.135256	0.33792	N	0.004545	T	0.18923	0.0454	L	0.27053	0.805	0.29709	N	0.839571	B	0.13594	0.008	B	0.13407	0.009	T	0.17868	-1.0355	10	0.07813	T	0.8	-24.6132	5.67	0.17717	0.0:0.1247:0.0:0.8753	.	263	Q9UJT2	TSKS_HUMAN	E	263;63	ENSP00000246801:K263E;ENSP00000351691:K63E	ENSP00000246801:K263E	K	-	1	0	TSKS	54941744	0.998000	0.40836	0.998000	0.56505	0.678000	0.39670	1.953000	0.40352	2.000000	0.58554	0.482000	0.46254	AAG	-	NULL		0.721	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	T	NM_021733	-		50249932	-1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	SNP	0.960	C	C	50249932	T	C	50249932	3	2	59	1	0	0	0	0	1	0	0	0	16633	1792	62	5	1015	5	TSKS	19	50249932	Missense_Mutation	SNP	T	TCGA-DX-A48L-01A-11D-A307-09	16762840	50249932	8879051	57	3300											
ZNF335	63925	genome.wustl.edu	37	chr20	44596263	44596263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttaccagctgctgctgcGgctgctgctactggaagtgg	13	10	0	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr20:44596263G>A	ENST00000322927.2	-	6	925	c.825C>T	c.(823-825)gcC>gcT	p.A275A	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Silent_p.A120A	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	275					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCTGCGGCTGCTGCTA	0.577																																																	0								ENSG00000198026						72	64	67					20																	44596263		2203	4300	6503	ZNF335	SO:0001819	synonymous_variant	0			-	HGNC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.825C>T	20.37:g.44596263G>A		Somatic	0	37	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	B4DLG7|Q548D0|Q9H684	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A275	ENST00000322927.2	37	c.825	CCDS13389.1	20																																																																																			-	NULL		0.577	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	G	NM_022095	-		44596263	-1	no_errors	ENST00000322927	ensembl	human	known	74_37	silent	SNP	0.000	A	A	44596263	G	A	44596263	2	1	59	1	0	0	0	0	0	0	0	1	17859	1103	39	1		1	ZNF335	20	44596263	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		44596263	18429257	58	3301											
GART	2618	genome.wustl.edu	37	chr21	34904725	34904725	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccccttttccagctgcaaGaccactggccttcacaacca	5	18	1	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr21:34904725G>T	ENST00000381831.3	-	5	717	c.454C>A	c.(454-456)Ctt>Att	p.L152I	GART_ENST00000361093.5_Missense_Mutation_p.L152I|GART_ENST00000381815.4_Missense_Mutation_p.L152I|GART_ENST00000381839.3_Missense_Mutation_p.L152I|GART_ENST00000497313.1_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	152	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCAGCTGCAAGACCACTGGCC	0.428																																																	0								ENSG00000159131						188	199	195					21																	34904725		2203	4300	6503	GART	SO:0001583	missense	0			-	HGNC	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.454C>A	21.37:g.34904725G>T	ENSP00000371253:p.Leu152Ile	Somatic	0	35	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP							pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L152I	ENST00000381831.3	37	c.454	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720873	0.89205	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.54675	1.09;1.09;1.09;1.11;0.59;0.56	6.07	6.07	0.98685	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.91459	3.21	0.80722	D	1	P	0.51653	0.947	P	0.60886	0.88	T	0.79063	-0.1957	10	0.87932	D	0	-19.5662	10.8974	0.47031	0.1385:0.0:0.8615:0.0	.	152	P22102	PUR2_HUMAN	I	152	ENSP00000371236:L152I;ENSP00000371253:L152I;ENSP00000371261:L152I;ENSP00000354388:L152I;ENSP00000413040:L152I;ENSP00000398631:L152I	ENSP00000354388:L152I	L	-	1	0	GART	33826595	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.516000	0.67055	2.885000	0.99019	0.655000	0.94253	CTT	-	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth		0.428	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	protein_coding	OTTHUMT00000140626.3	G	NM_000819	-		34904725	-1	no_errors	ENST00000381815	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34904725	G	T	34904725	3	4	59	1	0	0	0	0	1	0	0	0	6245	942	33	3	2654	3	GART	21	34904725	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		34904725	13225170	59	3302											
PI4KA	5297	genome.wustl.edu	37	chr22	21084191	21084191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccaccgacctgatttcttgGagatggtggacatgccgctg	12	12	1	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr22:21084191G>T	ENST00000572273.1	-	37	4453	c.4223C>A	c.(4222-4224)tCc>tAc	p.S1408Y	PI4KA_ENST00000414196.3_Missense_Mutation_p.S218Y|PI4KA_ENST00000255882.6_Missense_Mutation_p.S1466Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1408					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)			TGATTTCTTGGAGATGGTGGA	0.557																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						97	70	79					22																	21084191		2203	4300	6503	PI4KA	SO:0001583	missense	0			-	HGNC	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.4223C>A	22.37:g.21084191G>T	ENSP00000458238:p.Ser1408Tyr	Somatic	0	32	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q7Z625|Q9UPG2	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S1466Y	ENST00000572273.1	37	c.4397		22	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381607	0.82792	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.78924	-1.22	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.77103	2.36	0.80722	D	1	P	0.39044	0.656	B	0.37387	0.248	D	0.83514	0.0082	10	0.87932	D	0	-29.063	19.29	0.94095	0.0:0.0:1.0:0.0	.	1408	P42356	PI4KA_HUMAN	Y	1408;218	ENSP00000402981:S218Y	ENSP00000255882:S1408Y	S	-	2	0	PI4KA	19414191	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.723000	0.98772	2.569000	0.86673	0.563000	0.77884	TCC	-	NULL		0.557	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21084191	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21084191	G	T	21084191	3	4	59	1	0	0	0	0	1	0	0	0	11875	1174	41	3	1987	3	PI4KA	22	21084191	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09		21084191	30220375	60	3303											
TUBGCP6	85378	genome.wustl.edu	37	chr22	50660945	50660945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctccagtcggtgcctctGgattctccacagtgccttct	8	15	4	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr22:50660945G>T	ENST00000248846.5	-	14	2451	c.2347C>A	c.(2347-2349)Cag>Aag	p.Q783K	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.Q783K|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	783					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)		CGGTGCCTCTGGATTCTCCAC	0.567																																																	0								ENSG00000128159						72	65	68					22																	50660945		2203	4300	6503	TUBGCP6	SO:0001583	missense	0			-	HGNC	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.2347C>A	22.37:g.50660945G>T	ENSP00000248846:p.Gln783Lys	Somatic	0	14	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP							pfam_TUBGCP	p.Q783K	ENST00000248846.5	37	c.2347	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021969	0.93462	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.09163	3.01;3.17	4.9	4.9	0.64082	.	0.408258	0.28388	N	0.015531	T	0.18299	0.0439	L	0.47716	1.5	0.49213	D	0.999762	P;P	0.48230	0.907;0.907	P;P	0.48770	0.589;0.589	T	0.00842	-1.1544	10	0.44086	T	0.13	.	18.0724	0.89413	0.0:0.0:1.0:0.0	.	775;783	B2RWN4;Q96RT7	.;GCP6_HUMAN	K	783	ENSP00000248846:Q783K;ENSP00000397387:Q783K	ENSP00000248846:Q783K	Q	-	1	0	TUBGCP6	49003072	1.000000	0.71417	0.962000	0.40283	0.939000	0.58152	8.782000	0.91809	2.265000	0.75225	0.561000	0.74099	CAG	-	pfam_TUBGCP		0.567	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	G	NM_020461	-		50660945	-1	no_errors	ENST00000248846	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50660945	G	T	50660945	3	4	59	1	0	0	0	0	1	0	0	0	16777	1357	47	3	3160	3	TUBGCP6	22	50660945	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	29576754	50660945	643621	61	3304											
STS	412	genome.wustl.edu	37	chrX	7171296	7171296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccgagagccacgcagCatcaaggccgaacatcatcc	11	14	2	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:7171296C>A	ENST00000217961.4	+	2	291	c.71C>A	c.(70-72)gCa>gAa	p.A24E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	24					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	AGCCACGCAGCATCAAGGCCG	0.502									Ichthyosis																																								0								ENSG00000101846						128	94	106					X																	7171296		2203	4299	6502	STS	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.71C>A	X.37:g.7171296C>A	ENSP00000217961:p.Ala24Glu	Somatic	0	28	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	B2RA47	Missense_Mutation	SNP							pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A24E	ENST00000217961.4	37	c.71	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217660	0.06101	.	.	ENSG00000101846	ENST00000217961	D	0.94046	-3.34	3.68	0.0467	0.14278	Alkaline-phosphatase-like, core domain (1);	2.223100	0.02918	U	0.137577	D	0.85182	0.5638	N	0.20483	0.58	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.73004	-0.4119	10	0.12103	T	0.63	.	3.1028	0.06331	0.3311:0.3658:0.0:0.3032	.	24	P08842	STS_HUMAN	E	24	ENSP00000217961:A24E	ENSP00000217961:A24E	A	+	2	0	STS	7181296	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.859000	0.04277	0.004000	0.14682	0.600000	0.82982	GCA	-	superfamily_Alkaline_phosphatase_core		0.502	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	protein_coding	OTTHUMT00000055686.1	C	NM_000351	-		7171296	1	no_errors	ENST00000217961	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7171296	C	A	7171296	3	1	59	1	0	0	0	0	1	0	0	0	15339	710	25	3	77	3	STS	23	7171296	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09		7171296	148099264	62	3305											
DMD	1756	genome.wustl.edu	37	chrX	31515003	31515003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtagccacaccagaaGttcctgcagagaaaggtgca	11	11	0	2			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:31515003G>A	ENST00000357033.4	-	57	8655	c.8449C>T	c.(8449-8451)Ctt>Ttt	p.L2817F	DMD_ENST00000359836.1_Missense_Mutation_p.L357F|DMD_ENST00000474231.1_Missense_Mutation_p.L357F|DMD_ENST00000541735.1_Missense_Mutation_p.L357F|DMD_ENST00000343523.2_Missense_Mutation_p.L357F|DMD_ENST00000378677.2_Missense_Mutation_p.L2813F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.L357F	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	2817					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)				CACACCAGAAGTTCCTGCAGA	0.488																																																	0								ENSG00000198947						64	50	55					X																	31515003		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.8449C>T	X.37:g.31515003G>A	ENSP00000354923:p.Leu2817Phe	Somatic	0	35	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	32	44.83	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L2817F	ENST00000357033.4	37	c.8449	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.426941|4.426941	0.83667|0.83667	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.33712|.	U|.	0.004637|.	T|T	0.72045|0.72045	0.3412|0.3412	L|L	0.55103|0.55103	1.725|1.725	0.54753|0.54753	D|D	0.999982|0.999982	P;P;D;P;P;P;P;P;B;P;D|.	0.71674|.	0.947;0.911;0.998;0.911;0.911;0.937;0.598;0.598;0.355;0.487;0.994|.	P;P;D;B;B;P;B;B;B;B;D|.	0.78314|.	0.901;0.532;0.991;0.402;0.402;0.742;0.325;0.325;0.092;0.189;0.943|.	T|T	0.68300|0.68300	-0.5445|-0.5445	10|5	0.66056|.	D|.	0.02|.	.|.	19.1264|19.1264	0.93386|0.93386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2809;2817;2813;1476;1473;357;357;357;357;357;2694|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	F|I	2809;1476;1473;513;2813;2817;357;357;2817;2694;357;357;357|545	ENSP00000350765:L513F;ENSP00000367948:L2813F;ENSP00000354923:L2817F;ENSP00000352894:L357F;ENSP00000340057:L357F;ENSP00000367979:L357F;ENSP00000444119:L357F;ENSP00000417123:L357F|.	ENSP00000340057:L357F|.	L|T	-|-	1|2	0|0	DMD|DMD	31424924|31424924	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.963000|0.963000	0.63663|0.63663	7.920000|7.920000	0.87521|0.87521	2.466000|2.466000	0.83321|0.83321	0.594000|0.594000	0.82650|0.82650	CTT|ACT	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006	-		31515003	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31515003	G	A	31515003	3	1	59	1	0	0	0	0	1	0	0	0	4582	1029	36	2	2814	2	DMD	23	31515003	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	24343707	31515003	123755557	63	3306											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic					0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT	TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	59	1	0	1	1	0	0	0	0	0	14304	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-DX-A48L-01A-11D-A307-09	18835755	50350758	104919802	64	3307											
GDPD2	54857	genome.wustl.edu	37	chrX	69646531	69646531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatattggagcagccGctggaattgccctcctggcc	10	14	1	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:69646531G>A	ENST00000374382.3	+	7	747	c.496G>A	c.(496-498)Gct>Act	p.A166T	GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000538649.1_Missense_Mutation_p.A87T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A87T|GDPD2_ENST00000453994.2_Missense_Mutation_p.A166T	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	166					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TGGAGCAGCCGCTGGAATTGC	0.617																																																	0								ENSG00000130055						45	37	40					X																	69646531		2203	4300	6503	GDPD2	SO:0001583	missense	0			-	HGNC	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.496G>A	X.37:g.69646531G>A	ENSP00000363503:p.Ala166Thr	Somatic	0	32	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP							pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.A166T	ENST00000374382.3	37	c.496	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815455	0.32145	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.22539	1.95;2.52;2.52;2.53	4.92	1.03	0.20045	.	0.492095	0.20385	N	0.093375	T	0.09686	0.0238	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30605	0.287;0.107;0.123	B;B;B	0.20384	0.005;0.029;0.005	T	0.23655	-1.0182	9	.	.	.	-0.7823	4.8875	0.13710	0.3613:0.1519:0.4867:0.0	.	166;87;166	B4DVC9;B4DRH4;Q9HCC8	.;.;GDPD2_HUMAN	T	166;87;87;166	ENSP00000414019:A166T;ENSP00000445982:A87T;ENSP00000444601:A87T;ENSP00000363503:A166T	.	A	+	1	0	GDPD2	69563256	0.303000	0.24463	0.804000	0.32291	0.945000	0.59286	1.502000	0.35704	0.484000	0.27630	0.600000	0.82982	GCT	-	NULL		0.617	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	G	NM_017711	-		69646531	1	no_errors	ENST00000453994	ensembl	human	known	74_37	missense	SNP	0.024	A	A	69646531	G	A	69646531	3	1	59	1	0	0	0	0	1	0	0	0	6326	1087	38	1	518	1	GDPD2	23	69646531	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	19295773	69646531	85624029	65	3308											
CITED1	4435	genome.wustl.edu	37	chrX	71521928	71521928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatgggggtttagtgggaGgggtggttgtaggagagcct	22	2	0	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:71521928G>T	ENST00000246139.5	-	3	802	c.227C>A	c.(226-228)cCt>cAt	p.P76H	CITED1_ENST00000431381.1_Missense_Mutation_p.P102H|CITED1_ENST00000373619.3_Missense_Mutation_p.P76H|CITED1_ENST00000445983.1_Missense_Mutation_p.P76H	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	76					apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			skin(1)	1	Renal(35;0.156)					TTTAGTGGGAGGGGTGGTTGT	0.567																																																	0								ENSG00000125931						32	32	32					X																	71521928		2193	4283	6476	CITED1	SO:0001583	missense	0			-	HGNC	U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.227C>A	X.37:g.71521928G>T	ENSP00000246139:p.Pro76His	Somatic	0	46	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	B5BU50|B5BUI2	Missense_Mutation	SNP							pfam_CITED	p.P102H	ENST00000246139.5	37	c.305	CCDS14419.1	X	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461447	0.26248	.	.	ENSG00000125931	ENST00000453707;ENST00000431381;ENST00000445983;ENST00000373619;ENST00000246139;ENST00000417400;ENST00000427412;ENST00000450875	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.07	4.2	0.49525	.	0.337664	0.25277	N	0.031836	T	0.61714	0.2369	M	0.64997	1.995	0.19300	N	0.999978	D;D	0.56287	0.969;0.975	B;P	0.47786	0.421;0.557	T	0.58405	-0.7642	10	0.72032	D	0.01	-0.7492	7.0485	0.25059	0.2109:0.0:0.7891:0.0	.	102;76	Q99966-2;Q99966	.;CITE1_HUMAN	H	102;102;76;76;76;76;102;102	ENSP00000401764:P102H;ENSP00000388548:P102H;ENSP00000403274:P76H;ENSP00000362721:P76H;ENSP00000246139:P76H;ENSP00000414781:P76H;ENSP00000391407:P102H	ENSP00000246139:P76H	P	-	2	0	CITED1	71438653	0.997000	0.39634	0.569000	0.28460	0.082000	0.17680	2.723000	0.47277	0.917000	0.36895	0.529000	0.55759	CCT	-	pfam_CITED		0.567	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CITED1	protein_coding	OTTHUMT00000057181.1	G	NM_004143	-		71521928	-1	no_errors	ENST00000431381	ensembl	human	known	74_37	missense	SNP	0.352	T	T	71521928	G	T	71521928	3	4	59	1	0	0	0	0	1	0	0	0	3441	1000	35	3	358	3	CITED1	23	71521928	Missense_Mutation	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	1875397	71521928	83748632	66	3309											
HMGN5	79366	genome.wustl.edu	37	chrX	80371790	80371790	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttcagcaactgcttgGgcacttgtatctatgttttc	9	8	2	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:80371790G>T	ENST00000358130.2	-	6	508	c.180C>A	c.(178-180)gcC>gcA	p.A60A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	60					chromatin modification (GO:0016568)|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)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A60A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CAACTGCTTGGGCACTTGTAT	0.328																																																	2	Substitution - coding silent(2)	endometrium(2)						ENSG00000198157						148	113	125					X																	80371790		2203	4297	6500	HMGN5	SO:0001819	synonymous_variant	0			-	HGNC	AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.180C>A	X.37:g.80371790G>T		Somatic	0	41	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q5JSL1	Silent	SNP							pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A60	ENST00000358130.2	37	c.180	CCDS14448.1	X																																																																																			-	pfam_HMGN_fam,smart_HMGN_fam		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	protein_coding	OTTHUMT00000057354.1	G	NM_030763	-		80371790	-1	no_errors	ENST00000358130	ensembl	human	known	74_37	silent	SNP	0.020	T	T	80371790	G	T	80371790	2	4	59	1	0	0	0	0	0	0	0	1	7240	1219	43	3		3	HMGN5	23	80371790	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	8849862	80371790	74898770	67	3310											
ARHGEF6	9459	genome.wustl.edu	37	chrX	135827388	135827388	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggactatacttaccactgtCtttgactgcctttgcagccc	8	13	1	1			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:135827388C>A	ENST00000250617.6	-	4	1658	c.453G>T	c.(451-453)aaG>aaT	p.K151N	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	151					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)					TTACCACTGTCTTTGACTGCC	0.438																																																	0								ENSG00000129675						231	210	217					X																	135827388		2203	4300	6503	ARHGEF6	SO:0001583	missense	0			-	HGNC	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.453G>T	X.37:g.135827388C>A	ENSP00000250617:p.Lys151Asn	Somatic	0	26	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	18.18	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.K151N	ENST00000250617.6	37	c.453	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912946	0.52439	.	.	ENSG00000129675	ENST00000250617	T	0.56275	0.47	5.15	4.28	0.50868	Src homology-3 domain (1);	0.142157	0.64402	D	0.000007	T	0.54111	0.1838	L	0.55481	1.735	0.80722	D	1	P	0.48640	0.913	P	0.50352	0.638	T	0.57081	-0.7872	10	0.59425	D	0.04	.	8.4248	0.32723	0.0:0.7562:0.0:0.2438	.	151	Q15052	ARHG6_HUMAN	N	151	ENSP00000250617:K151N	ENSP00000250617:K151N	K	-	3	2	ARHGEF6	135655054	0.971000	0.33674	0.995000	0.50966	0.952000	0.60782	1.494000	0.35616	2.145000	0.66743	0.529000	0.55759	AAG	-	superfamily_SH3_domain		0.438	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	protein_coding	OTTHUMT00000058511.2	C	NM_004840	-		135827388	-1	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	SNP	0.996	A	A	135827388	C	A	135827388	3	1	59	1	0	0	0	0	1	0	0	0	910	912	32	3	1953	3	ARHGEF6	23	135827388	Missense_Mutation	SNP	C	TCGA-DX-A48L-01A-11D-A307-09	55455598	135827388	19443172	68	3311											
PLXNB3	5365	genome.wustl.edu	37	chrX	153038688	153038688	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactacccatcctgcagcctGgagccagtgtgtccggaggc	12	15	0	0			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:153038688G>T	ENST00000361971.5	+	18	3024	c.2910G>T	c.(2908-2910)ctG>ctT	p.L970L	PLXNB3_ENST00000538776.1_Silent_p.L623L|PLXNB3_ENST00000538966.1_Silent_p.L993L|PLXNB3_ENST00000538282.1_Silent_p.L580L	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	970	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGCCTGGAGCCAGTGT	0.662																																																	0								ENSG00000198753						39	33	35					X																	153038688		2194	4293	6487	PLXNB3	SO:0001819	synonymous_variant	0			-	HGNC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2910G>T	X.37:g.153038688G>T		Somatic	0	54	0		0.633229498325785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B7Z3E6|F5H773|Q9HDA4	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L993	ENST00000361971.5	37	c.2979	CCDS14729.1	X																																																																																			-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.662	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	protein_coding	OTTHUMT00000061063.1	G		-		153038688	1	no_errors	ENST00000538966	ensembl	human	known	74_37	silent	SNP	0.371	T	T	153038688	G	T	153038688	2	4	59	1	0	0	0	0	0	0	0	1	12127	1335	47	3		3	PLXNB3	23	153038688	Silent	SNP	G	TCGA-DX-A48L-01A-11D-A307-09	17211300	153038688	2231872	69	3312											
CHD5	26038	genome.wustl.edu	37	chr1	6209365	6209365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgggtccaggcataCgagatggtaggccctcgggc	15	12	1	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr1:6209365C>T	ENST00000262450.3	-	8	1201	c.1102G>A	c.(1102-1104)Gta>Ata	p.V368I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCAGGCATACGAGATGGTAG	0.652																																																	0								ENSG00000116254						67	54	58					1																	6209365		2203	4300	6503	CHD5	SO:0001583	missense	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1102G>A	1.37:g.6209365C>T	ENSP00000262450:p.Val368Ile	Somatic	0	30	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V368I	ENST00000262450.3	37	c.1102	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874795	0.91664	.	.	ENSG00000116254	ENST00000262450	D	0.84589	-1.87	4.03	4.03	0.46877	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	U	0.000014	D	0.89494	0.6731	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.90845	0.4726	10	0.66056	D	0.02	-30.1727	16.5458	0.84445	0.0:1.0:0.0:0.0	.	368	Q8TDI0	CHD5_HUMAN	I	368	ENSP00000262450:V368I	ENSP00000262450:V368I	V	-	1	0	CHD5	6131952	1.000000	0.71417	0.970000	0.41538	0.750000	0.42670	5.995000	0.70631	1.995000	0.58328	0.313000	0.20887	GTA	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	C	NM_015557	-		6209365	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6209365	C	T	6209365	3	4	60	1	0	0	0	0	1	0	0	0	3330	536	19	1	4898	1	CHD5	1	6209365	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09		6209365	243041256	1	3313											
CASZ1	54897	genome.wustl.edu	37	chr1	10719966	10719966	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttctggatgccccggAcgtcgtacttggaagggcgc	15	12	1	0			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr1:10719966A>T	ENST00000377022.3	-	6	1450	c.1133T>A	c.(1132-1134)gTc>gAc	p.V378D	CASZ1_ENST00000344008.5_Missense_Mutation_p.V378D|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	378					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)		GATGCCCCGGACGTCGTACTT	0.716																																																	0								ENSG00000130940						29	33	31					1																	10719966		2203	4298	6501	CASZ1	SO:0001583	missense	0			-	HGNC	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.1133T>A	1.37:g.10719966A>T	ENSP00000366221:p.Val378Asp	Somatic	0	68	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	42	46.15	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V378D	ENST00000377022.3	37	c.1133	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	a	23.3	4.400881	0.83120	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.63	4.63	0.57726	.	0.061020	0.64402	D	0.000004	T	0.63165	0.2488	L	0.27053	0.805	0.58432	D	0.999994	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.67548	0.952;0.937;0.937;0.919	T	0.68322	-0.5439	9	0.87932	D	0	-37.3562	14.3665	0.66810	1.0:0.0:0.0:0.0	.	402;378;378;378	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	D	378	.	ENSP00000339445:V378D	V	-	2	0	CASZ1	10642553	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.589000	0.90817	1.874000	0.54306	0.398000	0.26397	GTC	-	NULL		0.716	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	A	NM_017766	-		10719966	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10719966	A	T	10719966	3	4	60	1	0	0	0	0	1	0	0	0	2687	275	10	5	4214	5	CASZ1	1	10719966	Missense_Mutation	SNP	A	TCGA-DX-A48N-01A-11D-A307-09	4510601	10719966	238530655	2	3314											
HSPG2	3339	genome.wustl.edu	37	chr1	22204712	22204712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccccggaggtccccatGctgccacgctcgtcacagcg	11	19	1	0			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr1:22204712G>A	ENST00000374695.3	-	21	2731	c.2652C>T	c.(2650-2652)agC>agT	p.S884S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	884	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)	AGGTCCCCATGCTGCCACGCT	0.632																																																	0								ENSG00000142798						34	34	34					1																	22204712		2203	4300	6503	HSPG2	SO:0001819	synonymous_variant	0			-	HGNC	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.2652C>T	1.37:g.22204712G>A		Somatic	0	38	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	37	53.16	Q16287|Q5SZI3|Q9H3V5	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.S884	ENST00000374695.3	37	c.2652	CCDS30625.1	1																																																																																			-	pfam_EGF_laminin,smart_EGF_laminin		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22204712	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	silent	SNP	0.591	A	A	22204712	G	A	22204712	2	1	60	1	0	0	0	0	0	0	0	1	7432	1310	46	2		2	HSPG2	1	22204712	Silent	SNP	G	TCGA-DX-A48N-01A-11D-A307-09	11484746	22204712	227045909	3	3315											
NTRK1	4914	genome.wustl.edu	37	chr1	156837972	156837972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaggagggactgggcGgagtgcctgaacagaagctg	21	6	0	2	rs367836863	byFrequency	TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr1:156837972G>A	ENST00000524377.1	+	5	546	c.505G>A	c.(505-507)Gga>Aga	p.G169R	NTRK1_ENST00000368196.3_Missense_Mutation_p.G169R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G139R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G169R	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	169	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGGACTGGGCGGAGTGCCTGA	0.657			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			G|||	3	0.000599042	0	0	5008	,	,		17479	0		0	False		,,,				2504	0.0031							Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0								ENSG00000198400	G	ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	59	60	60		415,505,505	1.4	0	1		60	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	125,125,125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	139/761,169/791,169/797	156837972	3,13003	2203	4300	6503	NTRK1	SO:0001583	missense	0			-	HGNC	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.505G>A	1.37:g.156837972G>A	ENSP00000431418:p.Gly169Arg	Somatic	0	38	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.G169R	ENST00000524377.1	37	c.505	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577689	0.45902	2.27E-4	2.33E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	4.48	1.43	0.22495	Cysteine-rich flanking region, C-terminal (1);	0.562320	0.15956	N	0.236498	T	0.69088	0.3072	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.23316	0.008;0.046;0.083;0.067	B;B;B;B	0.19148	0.003;0.009;0.024;0.006	T	0.60193	-0.7311	10	0.40728	T	0.16	.	7.6135	0.28144	0.3738:0.0:0.6262:0.0	.	169;169;169;139	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	R	139;169;169;169	ENSP00000376120:G139R;ENSP00000357179:G169R;ENSP00000431418:G169R;ENSP00000351486:G169R	ENSP00000351486:G169R	G	+	1	0	NTRK1	155104596	0.003000	0.15002	0.003000	0.11579	0.847000	0.48162	-0.015000	0.12634	0.180000	0.19960	0.462000	0.41574	GGA	-	smart_Cys-rich_flank_reg_C		0.657	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	protein_coding	OTTHUMT00000392279.1	G	NM_002529	-		156837972	1	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	SNP	0.001	A	A	156837972	G	A	156837972	3	1	60	1	0	0	0	0	1	0	0	0	10708	1117	39	1	653	1	NTRK1	1	156837972	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09	134633260	156837972	92412649	4	3316											
METTL13	51603	genome.wustl.edu	37	chr1	171763629	171763629	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccagcatttgtggagcaatCttttctacagaaggttaaaa	8	8	2	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr1:171763629C>G	ENST00000361735.3	+	7	2053	c.1787C>G	c.(1786-1788)tCt>tGt	p.S596C	METTL13_ENST00000458517.1_Missense_Mutation_p.S595C|METTL13_ENST00000367737.5_Missense_Mutation_p.S440C|METTL13_ENST00000362019.3_Missense_Mutation_p.S510C|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	596							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GTGGAGCAATCTTTTCTACAG	0.448																																																	0								ENSG00000010165						80	72	75					1																	171763629		2203	4300	6503	METTL13	SO:0001583	missense	0			-	HGNC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1787C>G	1.37:g.171763629C>G	ENSP00000354920:p.Ser596Cys	Somatic	0	52	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	184	8.00	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP							pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.S596C	ENST00000361735.3	37	c.1787	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985074	0.35036	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.84	0.257	0.15574	.	1.243330	0.05024	N	0.473287	T	0.59569	0.2203	L	0.41824	1.3	0.09310	N	1	P;B;B	0.37352	0.591;0.352;0.405	P;B;B	0.45829	0.494;0.361;0.421	T	0.57481	-0.7804	10	0.62326	D	0.03	-35.223	4.2153	0.10531	0.2298:0.4891:0.0:0.2811	.	595;440;596	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	C	595;510;440;596;296;293	ENSP00000401955:S595C;ENSP00000355393:S510C;ENSP00000356711:S440C;ENSP00000354920:S596C;ENSP00000356710:S296C	ENSP00000341732:S293C	S	+	2	0	METTL13	170030252	0.000000	0.05858	0.128000	0.21923	0.681000	0.39784	0.306000	0.19279	0.375000	0.24679	0.655000	0.94253	TCT	-	pfam_Spermidine/spermine_synthase		0.448	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	protein_coding	OTTHUMT00000084528.5	C	NM_014955	-		171763629	1	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	SNP	0.002	G	G	171763629	C	G	171763629	3	3	60	1	0	0	0	0	1	0	0	0	9499	913	32	4	1813	4	METTL13	1	171763629	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09	14925657	171763629	77486992	5	3317											
C1orf125	126859	genome.wustl.edu	37	chr1	179504037	179504037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaagtaaaagaagaagaaGaacaacaagaagaagaagaa	11	2	0	9	rs200097954|rs368406759|rs6425573	byFrequency	TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr1:179504037G>C	ENST00000367618.3	+	25	3358	c.2971G>C	c.(2971-2973)Gaa>Caa	p.E991Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagaagaagaacaacaaga	0.318													G|||	14	0.00279553	0	0.0058	5008	,	,		17137	0.002		0.004	False		,,,				2504	0.0041																1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000162779						49	51	50					1																	179504037		2152	4286	6438	AXDND1	SO:0001583	missense	0			-	HGNC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2971G>C	1.37:g.179504037G>C	ENSP00000356590:p.Glu991Gln	Somatic	0	23	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	83	18.63	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP							pfam_Axonemal_dynein_light_chain	p.E991Q	ENST00000367618.3	37	c.2971	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052898	0.19907	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.19105	2.17;2.17	4.89	-6.02	0.02192	.	0.508747	0.16499	N	0.211773	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.10450	0.003;0.005	T	0.15838	-1.0423	10	0.28530	T	0.3	-2.8152	6.1976	0.20557	0.4456:0.3814:0.173:0.0	rs6425573	875;991	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	991;875;851	ENSP00000356590:E991Q;ENSP00000391716:E851Q	ENSP00000353471:E875Q	E	+	1	0	AXDND1	177770660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.365000	0.20348	-1.164000	0.02790	-1.047000	0.02352	GAA	-	NULL		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	protein_coding	OTTHUMT00000085312.1	G	NM_144696	rs6425573		179504037	1	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	SNP	0.000	C	C	179504037	G	C	179504037	3	2	60	1	0	0	0	0	1	0	0	0	1995	943	33	4	3065	4	C1orf125	1	179504037	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09	7740408	179504037	69746584	6	3318											
SLC11A1	6556	genome.wustl.edu	37	chr2	219251373	219251376	+	Frame_Shift_Del	DEL	CTCT	CTCT	-													cataggtgccccgcaccgtcCtctggctgaccatcgagcta							TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	CTCT	CTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr2:219251373_219251376delCTCT	ENST00000233202.6	+	5	749_752	c.409_412delCTCT	c.(409-414)ctctggfs	p.LW137fs	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.LW19fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	137					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCACCGTCCTCTGGCTGACCAT	0.564																																																	0								ENSG00000018280																																			SLC11A1	SO:0001589	frameshift_variant	0				HGNC	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.409_412delCTCT	2.37:g.219251373_219251376delCTCT	ENSP00000233202:p.Leu137fs	Somatic	0	20	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	C0H5Y3	Frame_Shift_Del	DEL							pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.L137fs	ENST00000233202.6	37	c.409_412	CCDS2415.1	2																																																																																			-	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like		0.564	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	protein_coding	OTTHUMT00000195076.2	CTCT	NM_000578			219251376	1	no_errors	ENST00000233202	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.998:1.000	-	-	219251376	CTCT	-	219251373	7	5	60	1	0	1	0	1	0	0	0	0	14388	681	24	0	427	0	SLC11A1	2	219251373	Frame_Shift_Del	DEL	CTCT	TCGA-DX-A48N-01A-11D-A307-09		219251373	23948000	7	3319											
ANO7	50636	genome.wustl.edu	37	chr2	242146995	242146995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgccttgcaggcaggaActgtgtggcagcaaggacag	14	10	0	0			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr2:242146995A>G	ENST00000274979.8	+	11	1252	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E	ANO7_ENST00000402430.3_Silent_p.E382E	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	383					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCAGGCAGGAACTGTGTGGCA	0.642																																																	0								ENSG00000146205						103	98	99					2																	242146995		2203	4300	6503	ANO7	SO:0001819	synonymous_variant	0			-	HGNC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1149A>G	2.37:g.242146995A>G		Somatic	0	69	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	57	36.67	Q6IWH6	Silent	SNP							pfam_Anoctamin	p.E383	ENST00000274979.8	37	c.1149	CCDS33423.1	2																																																																																			-	pfam_Anoctamin		0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	A	NM_001001891	-		242146995	1	no_errors	ENST00000274979	ensembl	human	known	74_37	silent	SNP	1.000	G	G	242146995	A	G	242146995	2	3	60	1	0	0	0	0	0	0	0	1	702	40	2	5		5	ANO7	2	242146995	Silent	SNP	A	TCGA-DX-A48N-01A-11D-A307-09	22895622	242146995	1052378	8	3320											
PDE6B	5158	genome.wustl.edu	37	chr4	619722	619722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccgccagcgcaacggcGtggccgagctggccaccagg	15	15	0	0			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr4:619722G>A	ENST00000496514.1	+	1	328	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	PDE6B_ENST00000255622.6_Missense_Mutation_p.V103M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	103	GAF 1.				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)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCGCAACGGCGTGGCCGAGCT	0.662																																					GBM(71;463 1194 9848 25922 46834)												0								ENSG00000133256						14	12	13					4																	619722		2195	4294	6489	PDE6B	SO:0001583	missense	0			-	HGNC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.307G>A	4.37:g.619722G>A	ENSP00000420295:p.Val103Met	Somatic	0	47	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.V103M	ENST00000496514.1	37	c.307	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954748	0.34471	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.68331	-0.32;-0.32	4.98	2.23	0.28157	GAF (2);	0.329570	0.30028	N	0.010582	T	0.60637	0.2284	L	0.34521	1.04	0.09310	N	1	P;P	0.38863	0.65;0.597	P;B	0.48166	0.569;0.433	T	0.52268	-0.8598	10	0.46703	T	0.11	.	7.786	0.29093	0.3535:0.0:0.6465:0.0	.	103;103	P35913;P35913-2	PDE6B_HUMAN;.	M	103	ENSP00000255622:V103M;ENSP00000420295:V103M	ENSP00000255622:V103M	V	+	1	0	PDE6B	609722	0.000000	0.05858	0.961000	0.40146	0.644000	0.38419	0.445000	0.21677	0.499000	0.27970	0.561000	0.74099	GTG	-	pfam_GAF,smart_GAF		0.662	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	protein_coding	OTTHUMT00000358109.1	G	NM_000283	-		619722	1	no_errors	ENST00000496514	ensembl	human	known	74_37	missense	SNP	0.012	A	A	619722	G	A	619722	3	1	60	1	0	0	0	0	1	0	0	0	11648	1145	40	1	309	1	PDE6B	4	619722	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		619722	190534554	9	3321											
GABRG1	2565	genome.wustl.edu	37	chr4	46067556	46067556	+	Frame_Shift_Del	DEL	G	G	-													ggtactattgaattttaaacGactgtcaaaccaggtttggg					rs267600168		TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr4:46067556delG	ENST00000295452.4	-	4	534	c.367delC	c.(367-369)cgtfs	p.R123fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	123					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Ketazolam(DB01587)|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)	AATTTTAAACGACTGTCAAAC	0.289																																																	0								ENSG00000163285						49	49	49					4																	46067556		2203	4300	6503	GABRG1	SO:0001589	frameshift_variant	0				HGNC	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.367delC	4.37:g.46067556delG	ENSP00000295452:p.Arg123fs	Somatic	0	31	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	Q5H9T8	Frame_Shift_Del	DEL							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R123fs	ENST00000295452.4	37	c.367	CCDS3470.1	4																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	protein_coding	OTTHUMT00000250470.1	G	NM_173536			46067556	-1	no_errors	ENST00000295452	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	46067556	G	-	46067556	7	5	60	1	0	1	0	1	0	0	0	0	6173	1058	37	0	1054	0	GABRG1	4	46067556	Frame_Shift_Del	DEL	G	TCGA-DX-A48N-01A-11D-A307-09	45447834	46067556	145086720	10	3322											
C4orf31	79625	genome.wustl.edu	37	chr4	121958270	121958270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagattttctgaatatcaaCcttgggcctggagtagacat	10	8	2	3			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr4:121958270C>T	ENST00000379692.4	-	4	1382	c.856G>A	c.(856-858)Gtt>Att	p.V286I	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	286	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGAATATCAACCTTGGGCCTG	0.443																																																	0								ENSG00000173376						98	98	98					4																	121958270		2203	4300	6503	NDNF	SO:0001583	missense	0			-	HGNC	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.856G>A	4.37:g.121958270C>T	ENSP00000369014:p.Val286Ile	Somatic	0	18	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP							pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.V286I	ENST00000379692.4	37	c.856	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550249	0.27652	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.77	4.03	0.46877	.	0.637137	0.16890	N	0.195350	T	0.57975	0.2090	L	0.54323	1.7	0.47123	D	0.999323	B	0.14012	0.009	B	0.22152	0.038	T	0.53718	-0.8399	9	0.51188	T	0.08	-3.8459	11.3249	0.49442	0.0:0.8042:0.1276:0.0682	.	286	Q8TB73	NDNF_HUMAN	I	286	.	ENSP00000369014:V286I	V	-	1	0	NDNF	122177720	0.986000	0.35501	0.608000	0.28969	0.979000	0.70002	2.595000	0.46197	0.764000	0.33197	0.655000	0.94253	GTT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.443	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	protein_coding	OTTHUMT00000256532.2	C	NM_024574	-		121958270	-1	no_errors	ENST00000379692	ensembl	human	known	74_37	missense	SNP	0.956	T	T	121958270	C	T	121958270	3	4	60	1	0	0	0	0	1	0	0	0	2263	507	18	2	854	2	C4orf31	4	121958270	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09	75890714	121958270	69196006	11	3323											
MAML3	55534	genome.wustl.edu	37	chr4	140811111	140811111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgttgctgttg	14	11	0	0	rs62344937		TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr4:140811111C>T	ENST00000509479.2	-	2	2335	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	MAML3_ENST00000398940.1_Silent_p.Q32Q|MAML3_ENST00000327122.5_Silent_p.Q337Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																																	0								ENSG00000196782						15	19	17					4																	140811111		2180	4283	6463	MAML3	SO:0001819	synonymous_variant	0			-	HGNC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1479G>A	4.37:g.140811111C>T		Somatic	0	45	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18		Silent	SNP							pfam_Neuroggenic_mastermind-like_N	p.Q493	ENST00000509479.2	37	c.1479	CCDS54805.1	4																																																																																			-	NULL		0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	C		rs62344937		140811111	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	silent	SNP	1.000	T	T	140811111	C	T	140811111	2	4	60	1	0	0	0	0	0	0	0	1	9209	796	28	2		2	MAML3	4	140811111	Silent	SNP	C	TCGA-DX-A48N-01A-11D-A307-09	18852841	140811111	50343165	12	3324											
GPR98	84059	genome.wustl.edu	37	chr5	90055265	90055265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaccataattgatgatgctGaatttgaattgacagagacg	9	6	1	6	rs267600732		TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr5:90055265G>C	ENST00000405460.2	+	58	12076	c.11980G>C	c.(11980-11982)Gaa>Caa	p.E3994Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3994	Calx-beta 26. {ECO:0000255}.				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)			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)		TGATGATGCTGAATTTGAATT	0.393																																																	0								ENSG00000164199						149	138	142					5																	90055265		2000	4180	6180	GPR98	SO:0001583	missense	0			-	HGNC	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.11980G>C	5.37:g.90055265G>C	ENSP00000384582:p.Glu3994Gln	Somatic	0	95	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	65	38.10	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E3994Q	ENST00000405460.2	37	c.11980	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060726	0.19987	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29917	1.55	4.99	4.12	0.48240	Na-Ca exchanger/integrin-beta4 (2);	0.683831	0.15609	N	0.253496	T	0.36496	0.0969	M	0.87971	2.92	0.09310	N	1	B;B	0.30634	0.202;0.288	B;B	0.34038	0.173;0.174	T	0.33523	-0.9865	10	0.22706	T	0.39	.	5.7766	0.18283	0.1602:0.0:0.6832:0.1566	.	3994;3994	E7ETI5;Q8WXG9	.;GPR98_HUMAN	Q	3994	ENSP00000384582:E3994Q	ENSP00000296619:E3994Q	E	+	1	0	GPR98	90091021	0.064000	0.20934	0.969000	0.41365	0.738000	0.42128	1.691000	0.37721	1.241000	0.43820	0.563000	0.77884	GAA	-	pfam_Calx_beta,smart_Calx_beta		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		90055265	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	0.000	C	C	90055265	G	C	90055265	3	2	60	1	0	0	0	0	1	0	0	0	6723	1291	45	4	12210	4	GPR98	5	90055265	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		90055265	90859995	13	3325											
CHSY3	337876	genome.wustl.edu	37	chr5	129241142	129241142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccgcgtggagttcttttCcagccagcagccccccaacg	12	16	1	0	rs540643583	byFrequency	TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr5:129241142C>T	ENST00000305031.4	+	1	978	c.620C>T	c.(619-621)tCc>tTc	p.S207F	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	207					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAGTTCTTTTCCAGCCAGCAG	0.687																																																	0								ENSG00000198108						12	18	16					5																	129241142		2177	4260	6437	CHSY3	SO:0001583	missense	0			-	HGNC	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.620C>T	5.37:g.129241142C>T	ENSP00000302629:p.Ser207Phe	Somatic	0	32	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP							pfam_Chond_GalNAc,pfam_Fringe-like	p.S207F	ENST00000305031.4	37	c.620	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519188	0.85495	.	.	ENSG00000198108	ENST00000305031	T	0.41758	0.99	3.5	3.5	0.40072	.	0.000000	0.35040	U	0.003487	T	0.60196	0.2250	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.62469	-0.6848	9	.	.	.	.	16.3289	0.83001	0.0:1.0:0.0:0.0	.	207	Q70JA7	CHSS3_HUMAN	F	207	ENSP00000302629:S207F	.	S	+	2	0	CHSY3	129269041	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.749000	0.68704	2.250000	0.74265	0.460000	0.39030	TCC	-	pfam_Fringe-like		0.687	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	protein_coding	OTTHUMT00000371453.1	C	NM_175856	-		129241142	1	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129241142	C	T	129241142	3	4	60	1	0	0	0	0	1	0	0	0	3415	855	30	2	622	2	CHSY3	5	129241142	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09	39185877	129241142	51674118	14	3326											
HMMR	3161	genome.wustl.edu	37	chr5	162891728	162891728	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtacaattcatttttccgcaGaatctaaacaaaatcttaat	3	8	3	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr5:162891728G>C	ENST00000358715.3	+	3	181		c.e3-1		HMMR_ENST00000353866.3_Splice_Site|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000393915.4_Splice_Site			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTTTTCCGCAGAATCTAAACA	0.333																																																	0								ENSG00000072571						111	109	110					5																	162891728		2203	4300	6503	HMMR	SO:0001630	splice_region_variant	0			-	HGNC	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.146-1G>C	5.37:g.162891728G>C		Somatic	0	47	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	73	15.12	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Splice_Site	SNP							-	e3-1	ENST00000358715.3	37	c.146-1	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838534	0.16891	.	.	ENSG00000072571	ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000358715	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8992	0.63792	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMMR	162824306	1.000000	0.71417	0.992000	0.48379	0.023000	0.10783	4.198000	0.58419	2.432000	0.82394	0.563000	0.77884	.	-	-		0.333	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	protein_coding	OTTHUMT00000252752.1	G	NM_012484	-	Intron	162891728	1	no_errors	ENST00000393915	ensembl	human	known	74_37	splice_site	SNP	0.992	C	C	162891728	G	C	162891728	5	2	60	1	0	0	0	0	0	0	1	0	7244	956	33	4	155	4	HMMR	5	162891728	Splice_Site	SNP	G	TCGA-DX-A48N-01A-11D-A307-09	33650586	162891728	18023532	15	3327											
BTN2A1	11120	genome.wustl.edu	37	chr6	26466202	26466202	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacttcaagaagaattgcGtaagtttagcctttccttaa	7	7	1	2	rs145303049	byFrequency	TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr6:26466202G>A	ENST00000312541.5	+	6	1203		c.e6+1		BTN2A1_ENST00000429381.1_Splice_Site|BTN2A1_ENST00000541522.1_Splice_Site|BTN2A1_ENST00000469185.1_Splice_Site	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1						lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAAGAATTGCGTAAGTTTAGC	0.373													G|||	2	0.000399361	0	0	5008	,	,		25161	0		0.001	False		,,,				2504	0.001																0								ENSG00000112763	G	,,,	0,4406		0,0,2203	210	188	196		,,,	3.8	1	6	dbSNP_134	196	3,8597	3.0+/-9.4	0,3,4297	yes	splice-5,splice-5,splice-5,splice-5	BTN2A1	NM_001197233.1,NM_001197234.1,NM_007049.3,NM_078476.2	,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,	,,,	26466202	3,13003	2203	4300	6503	BTN2A1	SO:0001630	splice_region_variant	0			GMAF=0.0005	HGNC	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.955+1G>A	6.37:g.26466202G>A		Somatic	0	81	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	56	47.17	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Splice_Site	SNP							-	e5+1	ENST00000312541.5	37	c.955+1	CCDS4613.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.125	0.781811	0.16120	0.0	3.49E-4	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185;ENST00000480218	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9579	0.52991	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTN2A1	26574181	1.000000	0.71417	0.980000	0.43619	0.026000	0.11368	5.107000	0.64603	2.057000	0.61298	0.491000	0.48974	.	-	-		0.373	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	protein_coding	OTTHUMT00000040122.2	G	NM_007049	rs145303049	Intron	26466202	1	no_errors	ENST00000312541	ensembl	human	known	74_37	splice_site	SNP	0.995	A	A	26466202	G	A	26466202	5	1	60	1	0	0	0	0	0	0	1	0	1562	1159	40	1	974	1	BTN2A1	6	26466202	Splice_Site	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		26466202	144648865	16	3328											
DGAT1	8694	genome.wustl.edu	37	chr8	145540562	145540562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggcggaacattcgcagaGggacgctcaccaggtactga	14	10	1	3			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr8:145540562G>T	ENST00000332324.4	-	16	1538	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	422					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CATTCGCAGAGGGACGCTCAC	0.647																																																	0								ENSG00000185000						49	42	45					8																	145540562		2197	4293	6490	DGAT1	SO:0001583	missense	0			-	HGNC	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1265C>A	8.37:g.145540562G>T	ENSP00000332258:p.Pro422His	Somatic	0	35	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP							pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.P422H	ENST00000332324.4	37	c.1265	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721319	0.89205	.	.	ENSG00000185000	ENST00000332324	T	0.72942	-0.7	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90782	0.4680	10	0.87932	D	0	-23.6486	14.8306	0.70146	0.0:0.0:1.0:0.0	.	422	O75907	DGAT1_HUMAN	H	422	ENSP00000332258:P422H	ENSP00000332258:P422H	P	-	2	0	DGAT1	145511370	1.000000	0.71417	0.991000	0.47740	0.908000	0.53690	5.674000	0.68117	2.368000	0.80403	0.561000	0.74099	CCT	-	pfam_MBOAT_fam		0.647	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	protein_coding	OTTHUMT00000382059.3	G	NM_012079	-		145540562	-1	no_errors	ENST00000332324	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145540562	G	T	145540562	3	4	60	1	0	0	0	0	1	0	0	0	4459	1000	35	3	209	3	DGAT1	8	145540562	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		145540562	823460	17	3329											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100092968	100092969	+	In_Frame_Ins	INS	-	-	GAGGAG													aggaagatgagaaggaggaaINSgaggaggaggaggagaagct					rs71369506|rs9696736|rs113264216	byFrequency	TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr9:100092968_100092969insGAGGAG	ENST00000357054.1	+	32	3677_3678	c.2742_2743insGAGGAG	c.(2743-2745)gag>GAGGAGgag	p.915_915E>EEE	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_In_Frame_Ins_p.776_776E>EEE|CCDC180_ENST00000375202.2_In_Frame_Ins_p.776_776E>EEE|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_In_Frame_Ins_p.773_773E>EEE|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	915	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											agaaggaggaagaggaggagga	0.5														2962	0.591454	0.7443	0.6614	5008	,	,		17231	0.5813		0.3907	False		,,,				2504	0.5521																0								ENSG00000197816																																			CCDC180	SO:0001652	inframe_insertion	0				HGNC	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.2749_2754dupGAGGAG	9.37:g.100092969_100092974dupGAGGAG	ENSP00000349562:p.GluGlu919dup	Somatic					0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	In_Frame_Ins	INS							NULL	p.779in_frame_insEE	ENST00000357054.1	37	c.2325_2326		9																																																																																			-	NULL		0.5	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	protein_coding		-	NM_020893			100092969	1	no_errors	ENST00000375202	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.003	GAGGAG	GAGGAG	100092969	-	GAGGAG	100092968	7	5	60	1	0	1	1	0	0	0	0	0	8242	69	3	0	2824	0	KIAA1529	9	100092968	In_Frame_Ins	INS	-	TCGA-DX-A48N-01A-11D-A307-09		100092968	41120463	18	3330											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98363808	98363808	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagcggttacttgtgctaccTaaagggtagaaagaaaatca	11	6	1	2			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr10:98363808T>A	ENST00000339364.5	-	15	2290		c.e15-2		PIK3AP1_ENST00000371109.3_Splice_Site|PIK3AP1_ENST00000371110.2_Splice_Site	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1						negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTGTGCTACCTAAAGGGTAGA	0.448																																																	0								ENSG00000155629						38	37	38					10																	98363808		2202	4300	6502	PIK3AP1	SO:0001630	splice_region_variant	0			-	HGNC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2171-2A>T	10.37:g.98363808T>A		Somatic	0	16	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Splice_Site	SNP							-	e15-2	ENST00000339364.5	37	c.2171-2	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585164	0.28268	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4539	0.50169	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3AP1	98353798	1.000000	0.71417	0.896000	0.35187	0.127000	0.20565	4.803000	0.62546	1.956000	0.56807	0.379000	0.24179	.	-	-		0.448	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	protein_coding	OTTHUMT00000049619.2	T	NM_152309	-	Intron	98363808	-1	no_errors	ENST00000339364	ensembl	human	known	74_37	splice_site	SNP	0.955	A	A	98363808	T	A	98363808	5	1	60	1	0	0	0	0	0	0	1	0	11910	1536	53	5	260	5	PIK3AP1	10	98363808	Splice_Site	SNP	T	TCGA-DX-A48N-01A-11D-A307-09		98363808	37170939	19	3331											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651420	1651420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtggggggtccaaggGgggctgtggctcctgtgggg	21	9	0	0			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr11:1651420G>T	ENST00000399676.2	+	1	388	c.350G>T	c.(349-351)gGg>gTg	p.G117V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	117	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGTCCAAGGGGGGCTGTGGC	0.701																																																	0								ENSG00000185940						16	25	22					11																	1651420		1979	3985	5964	KRTAP5-5	SO:0001583	missense	0			-	HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.350G>T	11.37:g.1651420G>T	ENSP00000382584:p.Gly117Val	Somatic	0	53	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65	A8MWN2	Missense_Mutation	SNP							NULL	p.G117V	ENST00000399676.2	37	c.350	CCDS41592.1	11	.	.	.	.	.	.	.	.	.	.	G	4.255	0.046386	0.08243	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01126	5.3	2.98	2.98	0.34508	.	.	.	.	.	T	0.04815	0.0130	M	0.84948	2.725	0.36925	D	0.891601	D	0.65815	0.995	P	0.56163	0.793	T	0.19549	-1.0302	9	0.72032	D	0.01	.	9.443	0.38679	0.0:0.0:1.0:0.0	.	117	Q701N2	KRA55_HUMAN	V	117;88	ENSP00000382584:G117V	ENSP00000382584:G117V	G	+	2	0	KRTAP5-5	1607996	0.651000	0.27340	0.990000	0.47175	0.029000	0.11900	0.903000	0.28475	1.240000	0.43803	0.418000	0.28097	GGG	-	NULL		0.701	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	G		-		1651420	1	no_errors	ENST00000399676	ensembl	human	known	74_37	missense	SNP	0.998	T	T	1651420	G	T	1651420	3	4	60	1	0	0	0	0	1	0	0	0	8566	1232	43	3	352	3	KRTAP5-5	11	1651420	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		1651420	133355096	20	3332											
RIN1	9610	genome.wustl.edu	37	chr11	66101439	66101439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttgcaggcctgcaggagCcgcttgacctgggcgctggg	17	12	0	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr11:66101439C>A	ENST00000311320.4	-	7	1668	c.1542G>T	c.(1540-1542)cgG>cgT	p.R514R	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.R348R|RIN1_ENST00000424433.2_Silent_p.R409R|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	514	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCTGCAGGAGCCGCTTGACCT	0.652																																																	0								ENSG00000174791						17	11	13					11																	66101439		2156	4238	6394	RIN1	SO:0001819	synonymous_variant	0			-	HGNC	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.1542G>T	11.37:g.66101439C>A		Somatic	0	82	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	60	40.20	O15010|Q00427|Q96CC8	Silent	SNP							pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R514	ENST00000311320.4	37	c.1542	CCDS31614.1	11																																																																																			-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9		0.652	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	C	NM_004292	-		66101439	-1	no_errors	ENST00000311320	ensembl	human	known	74_37	silent	SNP	0.342	A	A	66101439	C	A	66101439	2	1	60	1	0	0	0	0	0	0	0	1	13379	726	26	3		3	RIN1	11	66101439	Silent	SNP	C	TCGA-DX-A48N-01A-11D-A307-09	64450019	66101439	68905077	21	3333											
C12orf26	84190	genome.wustl.edu	37	chr12	82872802	82872802	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgccctgaagaagcagcagtGatttccattgaagcaaatta	9	8	0	4			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr12:82872802G>C	ENST00000248306.3	+	12	1880	c.1811G>C	c.(1810-1812)tGa>tCa	p.*604S	RP11-263K4.5_ENST00000552532.1_lincRNA	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	0							methyltransferase activity (GO:0008168)										AAGCAGCAGTGATTTCCATTG	0.348																																																	0								ENSG00000127720						162	143	150					12																	82872802		2203	4300	6503	METTL25	SO:0001578	stop_lost	0			-	HGNC	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1811G>C	12.37:g.82872802G>C	ENSP00000248306:p.*604Serext*13	Somatic	0	39	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	211	338	38.36	Q9H5Y3	Nonstop_Mutation	SNP							NULL	p.*604S	ENST00000248306.3	37	c.1811	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118207	0.37339	.	.	ENSG00000127720	ENST00000248306	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5405	0.50663	0.0817:0.0:0.9183:0.0	.	.	.	.	S	604	.	.	X	+	2	2	C12orf26	81396933	1.000000	0.71417	0.984000	0.44739	0.711000	0.40976	2.519000	0.45546	2.492000	0.84095	0.650000	0.86243	TGA	-	NULL		0.348	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	protein_coding	OTTHUMT00000408192.1	G	NM_032230	-		82872802	1	no_errors	ENST00000248306	ensembl	human	known	74_37	nonstop	SNP	0.686	C	C	82872802	G	C	82872802	4	2	60	1	0	0	0	0	0	0	0	0	1681	1285	45	4	1857	4	C12orf26	12	82872802	Nonstop_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		82872802	50979093	22	3334											
ASCL1	429	genome.wustl.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCAGCA													gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc					rs71438488|rs3832799|rs369257660		TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr12:103352171_103352172insGCAGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCAGCA	c.(148-153)gcgcag>gcGCAGCAgcag	p.61_62insQQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	61	Poly-Gln.			Q -> QQQ (in Ref. 1; AAA58376). {ECO:0000305}.	adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757																																																	0								ENSG00000139352																																			ASCL1	SO:0001652	inframe_insertion	0				HGNC	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.180_185dupGCAGCA	12.37:g.103352172_103352177dupGCAGCA	ENSP00000266744:p.Gln60_Gln61dup	Somatic					0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K3C4|Q9BQ30	In_Frame_Ins	INS							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.54in_frame_insQQ	ENST00000266744.3	37	c.149_150	CCDS31886.1	12																																																																																			-	NULL		0.757	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCL1	protein_coding	OTTHUMT00000406707.1	-				103352172	1	no_errors	ENST00000266744	ensembl	human	known	74_37	in_frame_ins	INS	0.997:0.997	GCAGCA	GCAGCA	103352172	-	GCAGCA	103352171	7	5	60	1	0	1	1	0	0	0	0	0	1034	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-DX-A48N-01A-11D-A307-09	20479369	103352171	30499724	23	3335											
NOS1	4842	genome.wustl.edu	37	chr12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatcctgcccacacagcGcgaggcattccgccaggcgt	12	16	0	0			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr12:117723944G>A	ENST00000338101.4	-	5	1259	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NOS1_ENST00000317775.6_Missense_Mutation_p.R419C|NOS1_ENST00000344089.3_3'UTR			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)			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)		CCCACACAGCGCGAGGCATTC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						130	131	131					12																	117723944		2168	4298	6466	NOS1	SO:0001583	missense	0			-	HGNC		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.1255C>T	12.37:g.117723944G>A	ENSP00000337459:p.Arg419Cys	Somatic	0	35	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	122	9.63		Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R419C	ENST00000338101.4	37	c.1255	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305182	0.81247	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.56444	0.46;0.46	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.85682	D	0.000000	T	0.81763	0.4891	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87928	0.2708	10	0.87932	D	0	-26.0352	18.3299	0.90264	0.0:0.0:1.0:0.0	.	419	P29475	NOS1_HUMAN	C	419	ENSP00000320758:R419C;ENSP00000337459:R419C	ENSP00000320758:R419C	R	-	1	0	NOS1	116208327	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.362000	0.59467	2.559000	0.86315	0.591000	0.81541	CGC	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	G		-		117723944	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117723944	G	A	117723944	3	1	60	1	0	0	0	0	1	0	0	0	10543	1087	38	1	3145	1	NOS1	12	117723944	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09	14371773	117723944	16127951	24	3336											
TMTC4	84899	genome.wustl.edu	37	chr13	101264682	101264682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggatttccccagcacgttTgccaacgagaacatgagaga	11	10	0	3			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr13:101264682T>C	ENST00000376234.3	-	16	2166	c.1977A>G	c.(1975-1977)gcA>gcG	p.A659A	TMTC4_ENST00000328767.5_Silent_p.A548A|TMTC4_ENST00000342624.5_Silent_p.A678A	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	659						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)					CCAGCACGTTTGCCAACGAGA	0.458																																																	0								ENSG00000125247						141	131	135					13																	101264682		2203	4300	6503	TMTC4	SO:0001819	synonymous_variant	0			-	HGNC		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.1977A>G	13.37:g.101264682T>C		Somatic	0	36	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	31	58.67	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP							pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A678	ENST00000376234.3	37	c.2034	CCDS41904.1	13																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	protein_coding	OTTHUMT00000045649.2	T	NM_032813	-		101264682	-1	no_errors	ENST00000342624	ensembl	human	known	74_37	silent	SNP	0.984	C	C	101264682	T	C	101264682	2	2	60	1	0	0	0	0	0	0	0	1	16270	1799	63	5		5	TMTC4	13	101264682	Silent	SNP	T	TCGA-DX-A48N-01A-11D-A307-09		101264682	13905196	25	3337											
SERPINA6	866	genome.wustl.edu	37	chr14	94772438	94772438	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcagctgggcgtcctgggtGatgcgtgagaaatttgcctg	15	8	1	2			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr14:94772438G>A	ENST00000341584.3	-	4	1148	c.1002C>T	c.(1000-1002)atC>atT	p.I334I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	334					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGTCCTGGGTGATGCGTGAGA	0.458																																																	0								ENSG00000170099						144	127	133					14																	94772438		2203	4300	6503	SERPINA6	SO:0001819	synonymous_variant	0			-	HGNC	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1002C>T	14.37:g.94772438G>A		Somatic	0	46	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	A8K456|Q7Z2Q9	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I334	ENST00000341584.3	37	c.1002	CCDS9924.1	14																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.458	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	protein_coding	OTTHUMT00000413065.1	G	NM_001756	-		94772438	-1	no_errors	ENST00000341584	ensembl	human	known	74_37	silent	SNP	0.036	A	A	94772438	G	A	94772438	2	1	60	1	0	0	0	0	0	0	0	1	14101	1280	45	2		2	SERPINA6	14	94772438	Silent	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		94772438	12577102	26	3338											
APBA2	321	genome.wustl.edu	37	chr15	29346408	29346408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgctactgccctgaggaCgacagctacctagagggcat	11	13	0	2	rs369962967		TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr15:29346408C>T	ENST00000558402.1	+	5	920	c.321C>T	c.(319-321)gaC>gaT	p.D107D	APBA2_ENST00000558259.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000561069.1_Silent_p.D107D|APBA2_ENST00000558330.1_Silent_p.D107D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	107					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)		GCCCTGAGGACGACAGCTACC	0.602																																																	0								ENSG00000034053	C	,	1,4405	2.1+/-5.4	0,1,2202	144	120	129		321,321	-2.8	1	15		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	107/738,107/750	29346408	1,13005	2203	4300	6503	APBA2	SO:0001819	synonymous_variant	0			-	HGNC	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.321C>T	15.37:g.29346408C>T		Somatic	0	31	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	36	47.06	E9PGI4|O60571|Q5XKC0	Silent	SNP							pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.D107	ENST00000558402.1	37	c.321	CCDS10022.1	15																																																																																			-	NULL		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	protein_coding	OTTHUMT00000251362.3	C	NM_005503	-		29346408	1	no_errors	ENST00000558259	ensembl	human	known	74_37	silent	SNP	0.995	T	T	29346408	C	T	29346408	2	4	60	1	0	0	0	0	0	0	0	1	757	535	19	1		1	APBA2	15	29346408	Silent	SNP	C	TCGA-DX-A48N-01A-11D-A307-09		29346408	73184984	27	3339											
SPTBN5	51332	genome.wustl.edu	37	chr15	42154053	42154053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagctgaaggggtgcccCgctgtgagcagttgctgccc	16	12	0	2			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr15:42154053C>T	ENST00000320955.6	-	45	7844	c.7617G>A	c.(7615-7617)gcG>gcA	p.A2539A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2539					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)			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)		AGGGGTGCCCCGCTGTGAGCA	0.642																																																	0								ENSG00000137877						25	29	28					15																	42154053		2030	4190	6220	SPTBN5	SO:0001819	synonymous_variant	0			-	HGNC	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.7617G>A	15.37:g.42154053C>T		Somatic	0	35	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	38	50.65		Silent	SNP							pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2539	ENST00000320955.6	37	c.7617		15																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	protein_coding	OTTHUMT00000420237.1	C	NM_016642	-		42154053	-1	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	SNP	0.000	T	T	42154053	C	T	42154053	2	4	60	1	0	0	0	0	0	0	0	1	15129	639	23	1		1	SPTBN5	15	42154053	Silent	SNP	C	TCGA-DX-A48N-01A-11D-A307-09	12807645	42154053	60377339	28	3340											
CDYL2	124359	genome.wustl.edu	37	chr16	80654799	80654799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgtcgtctgtggctgCgttgcagagcgctcgccgga	15	11	1	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr16:80654799C>T	ENST00000570137.2	-	4	1023	c.868G>A	c.(868-870)Gca>Aca	p.A290T	CDYL2_ENST00000563890.1_Missense_Mutation_p.A291T|CDYL2_ENST00000566173.1_Missense_Mutation_p.A291T|CDYL2_ENST00000562812.1_Missense_Mutation_p.A291T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	290						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTGTGGCTGCGTTGCAGAGC	0.557																																																	0								ENSG00000166446						51	45	47					16																	80654799		2203	4300	6503	CDYL2	SO:0001583	missense	0			-	HGNC	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.868G>A	16.37:g.80654799C>T	ENSP00000476295:p.Ala290Thr	Somatic	0	37	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	Q7Z5I8	Missense_Mutation	SNP							pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.A290T	ENST00000570137.2	37	c.868	CCDS32493.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674159	0.88445	.	.	ENSG00000166446	ENST00000299564	T	0.69685	-0.42	5.29	5.29	0.74685	Crotonase, core (1);	0.116085	0.64402	D	0.000018	T	0.80144	0.4569	M	0.74258	2.255	0.80722	D	1	D	0.63880	0.993	P	0.60117	0.869	T	0.82281	-0.0535	10	0.87932	D	0	.	18.0955	0.89488	0.0:1.0:0.0:0.0	.	290	Q8N8U2	CDYL2_HUMAN	T	290	ENSP00000299564:A290T	ENSP00000299564:A290T	A	-	1	0	CDYL2	79212300	1.000000	0.71417	0.603000	0.28903	0.678000	0.39670	7.651000	0.83577	2.741000	0.93983	0.655000	0.94253	GCA	-	pfam_Crotonase_core_superfam		0.557	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	protein_coding	OTTHUMT00000434727.2	C	NM_152342	-		80654799	-1	no_errors	ENST00000570137	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80654799	C	T	80654799	3	4	60	1	0	0	0	0	1	0	0	0	3188	768	27	1	668	1	CDYL2	16	80654799	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09		80654799	9699954	29	3341											
CCL23	6368	genome.wustl.edu	37	chr17	34344871	34344871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcaccttttgtgacccGggcctgggatccaagggcag	14	12	1	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr17:34344871G>A	ENST00000591423.1	-	1	128	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CCL23_ENST00000293280.2_Missense_Mutation_p.R22W	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	22				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1). {ECO:0000305}.	cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGTGACCCGGGCCTGGGAT	0.577																																																	0								ENSG00000167236						72	63	66					17																	34344871		2203	4300	6503	CCL23	SO:0001583	missense	0			-	HGNC	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"Chemokine ligands", "Endogenous ligands"	10622	protein-coding gene	gene with protein product		602494	"small inducible cytokine subfamily A (Cys-Cys), member 23"	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.64C>T	17.37:g.34344871G>A	ENSP00000465954:p.Arg22Trp	Somatic	0	35	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	53	14.52	B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R22W	ENST00000591423.1	37	c.64	CCDS59282.1	17	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603347	0.28534	.	.	ENSG00000167236	ENST00000293280	T	0.04119	3.7	4.43	-4.09	0.03951	.	26.135200	0.00166	N	0.000000	T	0.03348	0.0097	N	0.22421	0.69	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.04013	0.0;0.001	T	0.43097	-0.9412	10	0.72032	D	0.01	.	0.3225	0.00305	0.3607:0.1421:0.225:0.2722	.	22;22	P55773;P55773-2	CCL23_HUMAN;.	W	22	ENSP00000293280:R22W	ENSP00000293280:R22W	R	-	1	2	CCL23	31368984	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	-0.037000	0.12164	-0.571000	0.06014	-0.741000	0.03529	CGG	-	NULL		0.577	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCL23	protein_coding	OTTHUMT00000450228.1	G	NM_005064, NM_145898	-		34344871	-1	no_errors	ENST00000293280	ensembl	human	known	74_37	missense	SNP	0.000	A	A	34344871	G	A	34344871	3	1	60	1	0	0	0	0	1	0	0	0	2897	1115	39	1	365	1	CCL23	17	34344871	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		34344871	46850339	30	3342											
ACLY	47	genome.wustl.edu	37	chr17	40065259	40065259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggggattgatctcgAggtaggtgaagtacaagtcc	13	7	1	2			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr17:40065259A>C	ENST00000352035.2	-	6	729	c.599T>G	c.(598-600)cTc>cGc	p.L200R	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.L200R|ACLY_ENST00000353196.1_Missense_Mutation_p.L200R|ACLY_ENST00000393896.2_Missense_Mutation_p.L200R	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	200	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATTGATCTCGAGGTAGGTGAA	0.537																																					Colon(64;807 1396 15971 30971)												0								ENSG00000131473						70	71	71					17																	40065259		2203	4300	6503	ACLY	SO:0001583	missense	0			-	HGNC	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.599T>G	17.37:g.40065259A>C	ENSP00000253792:p.Leu200Arg	Somatic	0	32	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	52	16.13	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP							pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.L200R	ENST00000352035.2	37	c.599	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813515	0.90790	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.66460	-0.21;-0.21;-0.21	5.73	5.73	0.89815	ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;1.0;0.988	D;P;D;P	0.77004	0.958;0.803;0.989;0.777	D	0.87646	0.2525	10	0.87932	D	0	.	16.0069	0.80370	1.0:0.0:0.0:0.0	.	254;254;200;200	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	R	200;254;200;200	ENSP00000253792:L200R;ENSP00000345398:L200R;ENSP00000377474:L200R	ENSP00000253792:L200R	L	-	2	0	ACLY	37318785	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.336000	0.96533	2.180000	0.69256	0.460000	0.39030	CTC	-	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase		0.537	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	protein_coding	OTTHUMT00000257465.1	A	NM_001096	-		40065259	-1	no_errors	ENST00000352035	ensembl	human	known	74_37	missense	SNP	1.000	C	C	40065259	A	C	40065259	3	2	60	1	0	0	0	0	1	0	0	0	143	304	11	5	2802	5	ACLY	17	40065259	Missense_Mutation	SNP	A	TCGA-DX-A48N-01A-11D-A307-09	5720388	40065259	41129951	31	3343											
TGFB1	7040	genome.wustl.edu	37	chr19	41850691	41850691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgcacaactccggtgacatCaaaagataaccactctggcg	8	14	2	2			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr19:41850691C>G	ENST00000221930.5	-	3	1461	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	199	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CCGGTGACATCAAAAGATAAC	0.552																																																	0								ENSG00000105329						110	76	88					19																	41850691		2203	4300	6503	TGFB1	SO:0001583	missense	0			-	HGNC	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"Endogenous ligands"	11766	protein-coding gene	gene with protein product	"Camurati-Engelmann disease", "prepro-transforming growth factor beta-1"	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.595G>C	19.37:g.41850691C>G	ENSP00000221930:p.Asp199His	Somatic	0	41	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	68	18.07	A8K792|Q9UCG4	Missense_Mutation	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta	p.D199H	ENST00000221930.5	37	c.595	CCDS33031.1	19	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621717	0.87460	.	.	ENSG00000105329	ENST00000221930	T	0.77750	-1.12	5.44	5.44	0.79542	Transforming growth factor-beta, N-terminal (1);	0.101665	0.64402	D	0.000004	D	0.88262	0.6389	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.89474	0.3745	10	0.87932	D	0	-1.9476	14.6416	0.68729	0.0:1.0:0.0:0.0	.	199	P01137	TGFB1_HUMAN	H	199	ENSP00000221930:D199H	ENSP00000221930:D199H	D	-	1	0	TGFB1	46542531	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	5.309000	0.65774	2.837000	0.97791	0.655000	0.94253	GAT	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_TGF-beta		0.552	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB1	protein_coding	OTTHUMT00000463500.2	C		-		41850691	-1	no_errors	ENST00000221930	ensembl	human	known	74_37	missense	SNP	1.000	G	G	41850691	C	G	41850691	3	3	60	1	0	0	0	0	1	0	0	0	15823	826	29	4	597	4	TGFB1	19	41850691	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09		41850691	17278292	32	3344											
ZNF611	81856	genome.wustl.edu	37	chr19	53208629	53208629	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggtttctctccactaTgaattctagtatgttttgcc	7	8	2	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr19:53208629T>G	ENST00000319783.1	-	7	1995	c.1679A>C	c.(1678-1680)cAt>cCt	p.H560P	ZNF611_ENST00000543227.1_Missense_Mutation_p.H560P|ZNF611_ENST00000602162.1_Missense_Mutation_p.H491P|ZNF611_ENST00000595798.1_Missense_Mutation_p.H491P|ZNF611_ENST00000540744.1_Missense_Mutation_p.H560P|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Missense_Mutation_p.H491P	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	560					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(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTCTCCACTATGAATTCTAGT	0.403																																																	0								ENSG00000213020						200	195	196					19																	53208629		2203	4297	6500	ZNF611	SO:0001583	missense	0			-	HGNC	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1679A>C	19.37:g.53208629T>G	ENSP00000322427:p.His560Pro	Somatic	0	71	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	71	48.55	B3KRD5|Q69YG9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H560P	ENST00000319783.1	37	c.1679	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	10.52	1.374590	0.24857	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	1.47	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85839	0.5790	H	0.97611	4.04	0.27605	N	0.948834	D	0.89917	1.0	D	0.97110	1.0	T	0.74797	-0.3543	9	0.87932	D	0	.	7.8147	0.29252	0.0:0.0:0.0:1.0	.	560	Q8N823	ZN611_HUMAN	P	560;560;491;560	ENSP00000437616:H560P;ENSP00000439211:H560P;ENSP00000443505:H491P;ENSP00000322427:H560P	ENSP00000322427:H560P	H	-	2	0	ZNF611	57900441	0.999000	0.42202	0.491000	0.27477	0.246000	0.25737	3.441000	0.52893	0.656000	0.30886	0.163000	0.16589	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	protein_coding	OTTHUMT00000337612.1	T	NM_030972	-		53208629	-1	no_errors	ENST00000319783	ensembl	human	known	74_37	missense	SNP	1.000	G	G	53208629	T	G	53208629	3	3	60	1	0	0	0	0	1	0	0	0	18044	1464	51	5	442	5	ZNF611	19	53208629	Missense_Mutation	SNP	T	TCGA-DX-A48N-01A-11D-A307-09	11357938	53208629	5920354	33	3345											
HRH3	11255	genome.wustl.edu	37	chr20	60791718	60791718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagccggaggcgggtgcGcctctggatgttcaggtaga	16	10	2	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr20:60791718G>A	ENST00000340177.5	-	3	966	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	HRH3_ENST00000317393.6_Missense_Mutation_p.R228C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	228					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	AGGCGGGTGCGCCTCTGGATG	0.657																																																	0								ENSG00000101180						45	41	42					20																	60791718		2202	4300	6502	HRH3	SO:0001583	missense	0			-	HGNC	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.682C>T	20.37:g.60791718G>A	ENSP00000342560:p.Arg228Cys	Somatic	0	25	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	50	30.14	Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	p.R228C	ENST00000340177.5	37	c.682	CCDS13493.1	20	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112382	0.77210	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.38887	1.11;1.11	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.90145	3.09	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.973;0.999;0.997;0.999	T	0.79825	-0.1640	10	0.87932	D	0	-44.2605	17.5911	0.87997	0.0:0.0:1.0:0.0	.	228;228;228;228	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	C	228	ENSP00000342560:R228C;ENSP00000321482:R228C	ENSP00000321482:R228C	R	-	1	0	HRH3	60225113	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.255000	0.65462	2.209000	0.71365	0.205000	0.17691	CGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.657	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH3	protein_coding	OTTHUMT00000079994.1	G	NM_007232	-		60791718	-1	no_errors	ENST00000317393	ensembl	human	known	74_37	missense	SNP	1.000	A	A	60791718	G	A	60791718	3	1	60	1	0	0	0	0	1	0	0	0	7359	1087	38	1	659	1	HRH3	20	60791718	Missense_Mutation	SNP	G	TCGA-DX-A48N-01A-11D-A307-09		60791718	2233802	34	3346											
LIPI	149998	genome.wustl.edu	37	chr21	15481348	15481348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacatgtgtttggattaAgaaacacttcctctctgtct	8	8	2	1			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chr21:15481348A>G	ENST00000536861.1	-	10	1348	c.1349T>C	c.(1348-1350)cTt>cCt	p.L450P	LIPI_ENST00000344577.2_Missense_Mutation_p.L471P|AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	450					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTTTGGATTAAGAAACACTTC	0.333																																																	0								ENSG00000188992						176	179	178					21																	15481348		2203	4299	6502	LIPI	SO:0001583	missense	0			-	HGNC	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1349T>C	21.37:g.15481348A>G	ENSP00000440381:p.Leu450Pro	Somatic	0	48	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	44	42.86	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP							pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L471P	ENST00000536861.1	37	c.1412		21	.	.	.	.	.	.	.	.	.	.	a	11.47	1.648969	0.29336	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90385	-2.66;-2.64	3.7	3.7	0.42460	.	0.153654	0.49916	D	0.000138	D	0.91637	0.7357	L	0.46157	1.445	0.28944	N	0.890781	D	0.58970	0.984	D	0.64506	0.926	D	0.86107	0.1560	10	0.66056	D	0.02	.	9.056	0.36405	1.0:0.0:0.0:0.0	.	471	Q6XZB0-2	.	P	471;450	ENSP00000343331:L471P;ENSP00000440381:L450P	ENSP00000343331:L471P	L	-	2	0	LIPI	14403219	0.933000	0.31639	0.302000	0.25058	0.113000	0.19764	2.716000	0.47219	1.909000	0.55274	0.533000	0.62120	CTT	-	pirsf_Lipoprotein_lipase_LIPH		0.333	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	protein_coding		A	NM_198996	-		15481348	-1	no_errors	ENST00000344577	ensembl	human	known	74_37	missense	SNP	0.460	G	G	15481348	A	G	15481348	3	3	60	1	0	0	0	0	1	0	0	0	8827	72	3	5	37	5	LIPI	21	15481348	Missense_Mutation	SNP	A	TCGA-DX-A48N-01A-11D-A307-09		15481348	32648547	35	3347											
GPR143	4935	genome.wustl.edu	37	chrX	9711638	9711638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcatgattttgaaaaatCggatcttgatcacggctccc	8	11	2	3			TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chrX:9711638C>T	ENST00000467482.1	-	6	880	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	GPR143_ENST00000380929.2_Missense_Mutation_p.R265Q			P51810	GP143_HUMAN	G protein-coupled receptor 143	245					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TTTGAAAAATCGGATCTTGAT	0.398																																																	0								ENSG00000101850						154	133	140					X																	9711638		2203	4300	6503	GPR143	SO:0001583	missense	0			-	HGNC	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.734G>A	X.37:g.9711638C>T	ENSP00000417161:p.Arg245Gln	Somatic	0	20	0		0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	24	48.94	Q6NTI7	Missense_Mutation	SNP							pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.R265Q	ENST00000467482.1	37	c.794	CCDS14134.2	X	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676327	0.88445	.	.	ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126	D;D;D	0.99405	-5.84;-5.84;-5.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99908	1.1188	10	0.30078	T	0.28	-8.3958	16.3904	0.83533	0.0:1.0:0.0:0.0	.	245	P51810	GP143_HUMAN	Q	245;265;161	ENSP00000417161:R245Q;ENSP00000370316:R265Q;ENSP00000406138:R161Q	ENSP00000370316:R265Q	R	-	2	0	GPR143	9671638	1.000000	0.71417	0.844000	0.33320	0.568000	0.35870	6.601000	0.74136	2.124000	0.65301	0.513000	0.50165	CGA	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1		0.398	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	protein_coding	OTTHUMT00000055714.2	C	NM_000273	-		9711638	-1	no_errors	ENST00000380929	ensembl	human	known	74_37	missense	SNP	1.000	T	T	9711638	C	T	9711638	3	4	60	1	0	0	0	0	1	0	0	0	6653	884	31	1	496	1	GPR143	23	9711638	Missense_Mutation	SNP	C	TCGA-DX-A48N-01A-11D-A307-09		9711638	145558922	36	3348											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-DX-A48N-01A-11D-A307-09	TCGA-DX-A48N-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d25a05-5221-452e-a4b8-f1504d48e89c	a1a1386f-c8ff-4c7c-b1ee-19a86bd40af2	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic					0.705034899555616				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT	TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	60	1	0	1	1	0	0	0	0	0	14304	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-DX-A48N-01A-11D-A307-09	40639120	50350758	104919802	37	3349											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74648303	74648303	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgccagttctgaatTatttcttcatcagaaatcac	7	8	5	3			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:74648303T>A	ENST00000395089.1	-	2	491	c.492A>T	c.(490-492)atA>atT	p.I164I	LRRIQ3_ENST00000370911.3_Silent_p.I164I|LRRIQ3_ENST00000354431.4_Silent_p.I164I|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	164	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTTCTGAATTATTTCTTCAT	0.373																																																	0								ENSG00000162620						91	91	91					1																	74648303		2202	4299	6501	LRRIQ3	SO:0001819	synonymous_variant	0			-	HGNC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.492A>T	1.37:g.74648303T>A		Somatic	0	63	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	87	38.73	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP							pfscan_IQ_motif_EF-hand-BS	p.I164	ENST00000395089.1	37	c.492	CCDS41350.1	1																																																																																			-	NULL		0.373	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	protein_coding	OTTHUMT00000316539.1	T	NM_145258	-		74648303	-1	no_errors	ENST00000354431	ensembl	human	known	74_37	silent	SNP	0.990	A	A	74648303	T	A	74648303	2	1	61	1	0	0	0	0	0	0	0	1	9032	1744	61	5		5	LRRIQ3	1	74648303	Silent	SNP	T	TCGA-DX-A48O-01A-11D-A307-09		74648303	174602318	1	3350											
FCGR2B	2213	genome.wustl.edu	37	chr1	161641251	161641251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggaggactctgtgaCtctgacatgccgggggactc	14	12	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:161641251C>T	ENST00000358671.5	+	3	284	c.203C>T	c.(202-204)aCt>aTt	p.T68I	FCGR2B_ENST00000367960.5_Missense_Mutation_p.T61I|FCGR2B_ENST00000403078.3_Missense_Mutation_p.T68I|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000428605.2_Missense_Mutation_p.T68I|FCGR2B_ENST00000367961.4_Missense_Mutation_p.T61I|FCGR2B_ENST00000236937.9_Missense_Mutation_p.T68I|FCGR2B_ENST00000367962.4_Missense_Mutation_p.T68I	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	68	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACTCTGTGACTCTGACATGC	0.587			T	?	ALL																																			Dom	yes		1	1q23	2213	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"		L	0								ENSG00000072694						104	105	105					1																	161641251		2203	4300	6503	FCGR2B	SO:0001583	missense	0			-	HGNC	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.203C>T	1.37:g.161641251C>T	ENSP00000351497:p.Thr68Ile	Somatic	0	200	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	503	10.50	A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T68I	ENST00000358671.5	37	c.203	CCDS30924.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980603	0.34942	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	4.53	3.62	0.41486	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104565	0.42548	D	0.000690	T	0.31734	0.0806	M	0.87617	2.895	0.39186	D	0.962868	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.989;0.981	T	0.19877	-1.0292	10	0.59425	D	0.04	.	8.5885	0.33672	0.0:0.8909:0.0:0.1091	.	61;68;68;68;68;68	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	I	68;61;68;68;68;61;68;67	ENSP00000356939:T68I;ENSP00000356937:T61I;ENSP00000386038:T68I;ENSP00000404329:T68I;ENSP00000236937:T68I;ENSP00000356938:T61I;ENSP00000351497:T68I	ENSP00000236937:T68I	T	+	2	0	FCGR2B	159907875	0.759000	0.28416	0.749000	0.31150	0.059000	0.15707	1.001000	0.29783	0.896000	0.36366	0.462000	0.41574	ACT	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	protein_coding	OTTHUMT00000083337.4	C	NM_004001	-		161641251	1	no_errors	ENST00000358671	ensembl	human	known	74_37	missense	SNP	0.932	T	T	161641251	C	T	161641251	3	4	61	1	0	0	0	0	1	0	0	0	5784	565	20	2	213	2	FCGR2B	1	161641251	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	86992948	161641251	87609370	2	3351											
DUSP12	11266	genome.wustl.edu	37	chr1	161726620	161726639	+	Frame_Shift_Del	DEL	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT	-													aagttgggttccttcaactgGtatggtgaacagtgctcttg					rs112604425|rs542400759		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:161726620_161726639delGTATGGTGAACAGTGCTCTT	ENST00000367943.4	+	6	938_957	c.906_925delGTATGGTGAACAGTGCTCTT	c.(904-927)tggtatggtgaacagtgctcttgtfs	p.YGEQCSC303fs		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	303					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCTTCAACTGGTATGGTGAACAGTGCTCTTGTGGTAGGTG	0.355																																																	0								ENSG00000081721																																			DUSP12	SO:0001589	frameshift_variant	0				HGNC	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.906_925delGTATGGTGAACAGTGCTCTT	1.37:g.161726620_161726639delGTATGGTGAACAGTGCTCTT	ENSP00000356920:p.Tyr303fs	Somatic					0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5VXA8	Frame_Shift_Del	DEL							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y303fs	ENST00000367943.4	37	c.906_925	CCDS1234.1	1																																																																																			-	pirsf_DUSP12		0.355	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	protein_coding	OTTHUMT00000083588.1	GTATGGTGAACAGTGCTCTT	NM_007240			161726639	1	no_errors	ENST00000367943	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.000:0.951	-	-	161726639	GTATGGTGAACAGTGCTCTT	-	161726620	7	5	61	1	0	1	0	1	0	0	0	0	4814	1270	44	0	928	0	DUSP12	1	161726620	Frame_Shift_Del	DEL	GTATGGTGAACAGTGCTCTT	TCGA-DX-A48O-01A-11D-A307-09	85369	161726620	87524001	3	3352											
PTGS2	5743	genome.wustl.edu	37	chr1	186648506	186648506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggtacaatcgcacttataCtggtcaaatcccacactcat	6	13	2	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:186648506C>A	ENST00000367468.5	-	2	253	c.117G>T	c.(115-117)caG>caT	p.Q39H	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	39	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CGCACTTATACTGGTCAAATC	0.443																																																	0								ENSG00000073756						124	105	112					1																	186648506		2203	4300	6503	PTGS2	SO:0001583	missense	0			-	HGNC	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.117G>T	1.37:g.186648506C>A	ENSP00000356438:p.Gln39His	Somatic	0	35	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	98	27.94	A8K802|Q16876	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Q39H	ENST00000367468.5	37	c.117	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	9.191	1.025913	0.19512	.	.	ENSG00000073756	ENST00000367468	T	0.63580	-0.05	5.27	1.82	0.25136	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.394577	0.30142	N	0.010313	T	0.39572	0.1083	N	0.16066	0.365	0.31130	N	0.707851	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.25751	T	0.34	-4.1821	8.9122	0.35559	0.0:0.6139:0.1109:0.2752	.	39	P35354	PGH2_HUMAN	H	39	ENSP00000356438:Q39H	ENSP00000356438:Q39H	Q	-	3	2	PTGS2	184915129	0.000000	0.05858	0.901000	0.35422	0.849000	0.48306	-0.509000	0.06336	0.213000	0.20722	-0.797000	0.03246	CAG	-	pfscan_EG-like_dom		0.443	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	protein_coding	OTTHUMT00000086157.2	C	NM_000963	-		186648506	-1	no_errors	ENST00000367468	ensembl	human	known	74_37	missense	SNP	0.620	A	A	186648506	C	A	186648506	3	1	61	1	0	0	0	0	1	0	0	0	12762	564	20	3	1733	3	PTGS2	1	186648506	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	24921886	186648506	62602115	4	3353											
F13B	2165	genome.wustl.edu	37	chr1	197024914	197024914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatcccctcagtaagtAatattcattgcatctatatt	4	8	3	1	rs201427054		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:197024914A>G	ENST00000367412.1	-	8	1328	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	429	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTCAGTAAGTAATATTCATTG	0.428																																																	0								ENSG00000143278	A	HIS/TYR	0,4406		0,0,2203	117	113	114		1285	6	0.2	1		114	4,8596	3.7+/-12.6	0,4,4296	yes	missense	F13B	NM_001994.2	83	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	possibly-damaging	429/662	197024914	4,13002	2203	4300	6503	F13B	SO:0001583	missense	0			-	HGNC	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1285T>C	1.37:g.197024914A>G	ENSP00000356382:p.Tyr429His	Somatic	0	28	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	52	33.33	A8K3E5|Q5VYL5	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y429H	ENST00000367412.1	37	c.1285	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.369001	0.24771	0.0	4.65E-4	ENSG00000143278	ENST00000367412	T	0.71817	-0.6	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.30401	N	0.009709	T	0.69602	0.3129	M	0.73962	2.25	0.23933	N	0.996429	P	0.43578	0.811	B	0.41813	0.367	T	0.68629	-0.5358	10	0.42905	T	0.14	.	8.9332	0.35684	0.9177:0.0:0.0823:0.0	.	429	P05160	F13B_HUMAN	H	429	ENSP00000356382:Y429H	ENSP00000356382:Y429H	Y	-	1	0	F13B	195291537	1.000000	0.71417	0.249000	0.24280	0.007000	0.05969	3.154000	0.50693	2.289000	0.77006	0.482000	0.46254	TAC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.428	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	protein_coding	OTTHUMT00000088821.2	A	NM_001994	rs201427054		197024914	-1	no_errors	ENST00000367412	ensembl	human	known	74_37	missense	SNP	0.434	G	G	197024914	A	G	197024914	3	3	61	1	0	0	0	0	1	0	0	0	5343	362	13	5	720	5	F13B	1	197024914	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	10376408	197024914	52225707	5	3354											
RYR2	6262	genome.wustl.edu	37	chr1	237863631	237863631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatggaaaacctcaagcaGggccagttcactcacacccg	8	15	3	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:237863631G>A	ENST00000366574.2	+	65	9548	c.9231G>A	c.(9229-9231)caG>caA	p.Q3077Q	RYR2_ENST00000360064.6_Silent_p.Q3075Q|RYR2_ENST00000542537.1_Silent_p.Q3061Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3077					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTCAAGCAGGGCCAGTTCA	0.493																																																	0								ENSG00000198626						46	45	45					1																	237863631		1920	4134	6054	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9231G>A	1.37:g.237863631G>A		Somatic	0	50	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	130	34.67	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.Q3075	ENST00000366574.2	37	c.9225	CCDS55691.1	1																																																																																			-	NULL		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237863631	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	1.000	A	A	237863631	G	A	237863631	2	1	61	1	0	0	0	0	0	0	0	1	13777	991	35	2		2	RYR2	1	237863631	Silent	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	40838717	237863631	11386990	6	3355											
ZP4	57829	genome.wustl.edu	37	chr1	238048788	238048788	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtaggggtctgttcTgtgaaggatggagacctcca	14	10	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:238048788T>G	ENST00000366570.4	-	8	1221	c.1063A>C	c.(1063-1065)Aga>Cga	p.R355R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGTCTGTTCTGTGAAGGATG	0.537																																					NSCLC(166;160 2029 11600 18754 19936)												0								ENSG00000116996						65	65	65					1																	238048788		2203	4300	6503	ZP4	SO:0001819	synonymous_variant	0			-	HGNC	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1063A>C	1.37:g.238048788T>G		Somatic	0	57	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	121	25.77	B2RAE1	Silent	SNP							pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R355	ENST00000366570.4	37	c.1063	CCDS1615.1	1																																																																																			-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	protein_coding	OTTHUMT00000095476.1	T		-		238048788	-1	no_errors	ENST00000366570	ensembl	human	known	74_37	silent	SNP	0.844	G	G	238048788	T	G	238048788	2	3	61	1	0	0	0	0	0	0	0	1	18225	1588	55	5		5	ZP4	1	238048788	Silent	SNP	T	TCGA-DX-A48O-01A-11D-A307-09	185157	238048788	11201833	7	3356											
APOB	338	genome.wustl.edu	37	chr2	21231996	21231996	+	Frame_Shift_Del	DEL	C	C	-													aggaacagtgaacccttgctCtaccaatgctttcatacgtt							TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:21231996delC	ENST00000233242.1	-	26	7871	c.7744delG	c.(7744-7746)gagfs	p.E2582fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2582					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)					AACCCTTGCTCTACCAATGCT	0.453																																																	0								ENSG00000084674						110	101	104					2																	21231996		2203	4299	6502	APOB	SO:0001589	frameshift_variant	0				HGNC	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.7744delG	2.37:g.21231996delC	ENSP00000233242:p.Glu2582fs	Somatic	0	21	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	3	87.50	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E2582fs	ENST00000233242.1	37	c.7744	CCDS1703.1	2																																																																																			-	NULL		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C				21231996	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	21231996	C	-	21231996	7	5	61	1	0	1	0	1	0	0	0	0	785	922	32	0	5963	0	APOB	2	21231996	Frame_Shift_Del	DEL	C	TCGA-DX-A48O-01A-11D-A307-09		21231996	221967377	8	3357	45	2									
APOB	338	genome.wustl.edu	37	chr2	21231998	21231998	+	Missense_Mutation	SNP	A	A	T													gaacagtgaacccttgctctAccaatgctttcatacgttta							TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:21231998A>T	ENST00000233242.1	-	26	7869	c.7742T>A	c.(7741-7743)gTa>gAa	p.V2581E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2581					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)					CCCTTGCTCTACCAATGCTTT	0.448																																																	0								ENSG00000084674						110	101	104					2																	21231998		2203	4299	6502	APOB	SO:0001583	missense	0			-	HGNC	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.7742T>A	2.37:g.21231998A>T	ENSP00000233242:p.Val2581Glu	Somatic	0	21	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	1	88.00	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V2581E	ENST00000233242.1	37	c.7742	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762377	0.49468	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.16	5.16	0.70880	.	0.264810	0.26499	N	0.024023	T	0.03305	0.0096	M	0.62723	1.935	0.80722	D	1	D	0.61080	0.989	P	0.55087	0.768	T	0.50145	-0.8862	10	0.87932	D	0	.	15.0185	0.71609	1.0:0.0:0.0:0.0	.	2581	P04114	APOB_HUMAN	E	2581	ENSP00000233242:V2581E	ENSP00000233242:V2581E	V	-	2	0	APOB	21085503	0.974000	0.33945	0.978000	0.43139	0.602000	0.36980	4.975000	0.63777	1.948000	0.56530	0.459000	0.35465	GTA	-	NULL		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	A		-		21231998	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.991	T	T	21231998	A	T	21231998	3	4	61	1	0	0	0	0	1	0	0	0	785	391	14	5	5965	5	APOB	2	21231998	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	2	21231998	221967375	9	3358	45	2									
PRKD3	23683	genome.wustl.edu	37	chr2	37483997	37483997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcaggggctaagtatgCtggagttcctaccacagatc	10	10	1	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:37483997C>T	ENST00000379066.1	-	17	2983	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	PRKD3_ENST00000234179.2_Missense_Mutation_p.A741T			O94806	KPCD3_HUMAN	protein kinase D3	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				GCTAAGTATGCTGGAGTTCCT	0.453																																					Melanoma(80;621 1355 8613 11814 51767)												0								ENSG00000115825						132	125	128					2																	37483997		2203	4300	6503	PRKD3	SO:0001583	missense	0			-	HGNC	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.2221G>A	2.37:g.37483997C>T	ENSP00000368356:p.Ala741Thr	Somatic	0	56	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	51	52.34	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A741T	ENST00000379066.1	37	c.2221	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947480	0.92593	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64991	-0.13;-0.13	5.34	5.34	0.76211	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	0.63965	0.2556	N	0.10685	0.025	0.80722	D	1	D	0.55172	0.97	D	0.69479	0.964	T	0.71185	-0.4667	10	0.51188	T	0.08	-15.9728	19.0616	0.93095	0.0:1.0:0.0:0.0	.	741	O94806	KPCD3_HUMAN	T	741	ENSP00000368356:A741T;ENSP00000234179:A741T	ENSP00000234179:A741T	A	-	1	0	PRKD3	37337501	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	7.776000	0.85560	2.499000	0.84300	0.591000	0.81541	GCA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.453	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	protein_coding	OTTHUMT00000218570.3	C	NM_005813	-		37483997	-1	no_errors	ENST00000234179	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37483997	C	T	37483997	3	4	61	1	0	0	0	0	1	0	0	0	12525	797	28	2	463	2	PRKD3	2	37483997	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	16251999	37483997	205715376	10	3359											
TFPI	7035	genome.wustl.edu	37	chr2	188349667	188349667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacctggtaatataacCtcgacatattccaggatctt	5	9	1	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:188349667C>T	ENST00000233156.3	-	5	700	c.406G>A	c.(406-408)Ggt>Agt	p.G136S	TFPI_ENST00000392365.1_Missense_Mutation_p.G136S|TFPI_ENST00000409676.1_Missense_Mutation_p.G136S|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.G136S|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	136	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond.			blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	GTAATATAACCTCGACATATT	0.328																																																	0								ENSG00000003436						76	76	76					2																	188349667		2202	4296	6498	TFPI	SO:0001583	missense	0			-	HGNC		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.406G>A	2.37:g.188349667C>T	ENSP00000233156:p.Gly136Ser	Somatic	0	71	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	75	48.98	O95103|Q53TS4	Missense_Mutation	SNP							pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.G136S	ENST00000233156.3	37	c.406	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841281	0.91197	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	5.62	5.62	0.85841	Proteinase inhibitor I2, Kunitz metazoa (5);	0.217986	0.47852	D	0.000213	T	0.69628	0.3132	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.977	D;D	0.70716	0.97;0.951	T	0.69224	-0.5201	10	0.49607	T	0.09	.	16.7965	0.85603	0.0:1.0:0.0:0.0	.	136;136	P10646-2;P10646	.;TFPI1_HUMAN	S	136;136;136;123;136;136	ENSP00000376172:G136S;ENSP00000233156:G136S;ENSP00000397248:G136S;ENSP00000409177:G123S;ENSP00000386344:G136S;ENSP00000342306:G136S	ENSP00000233156:G136S	G	-	1	0	TFPI	188057912	0.594000	0.26849	0.991000	0.47740	0.974000	0.67602	4.110000	0.57831	2.638000	0.89438	0.585000	0.79938	GGT	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m		0.328	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	protein_coding	OTTHUMT00000255881.1	C	NM_006287	-		188349667	-1	no_errors	ENST00000233156	ensembl	human	known	74_37	missense	SNP	1.000	T	T	188349667	C	T	188349667	3	4	61	1	0	0	0	0	1	0	0	0	15815	681	24	2	656	2	TFPI	2	188349667	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	150865670	188349667	54849706	11	3360											
UGT1A5	54579	genome.wustl.edu	37	chr2	234621847	234621847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaatatgtacatcaaAgaagagaactttttcaccct	8	7	2	3			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:234621847A>C	ENST00000373414.3	+	1	210	c.210A>C	c.(208-210)aaA>aaC	p.K70N	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.K70N			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	70						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGTACATCAAAGAAGAGAACT	0.527																																																	0								ENSG00000240224						95	88	90					2																	234621847		2203	4300	6503	UGT1A5	SO:0001583	missense	0			-	HGNC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.210A>C	2.37:g.234621847A>C	ENSP00000362513:p.Lys70Asn	Somatic	0	63	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	74	43.94	B8K294	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K70N	ENST00000373414.3	37	c.210	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076696	0.36662	.	.	ENSG00000240224	ENST00000373414	T	0.61627	0.09	4.83	-0.411	0.12370	.	0.432837	0.26650	N	0.023218	T	0.62356	0.2421	L	0.58302	1.8	0.09310	N	1	D;D	0.60575	0.988;0.988	D;D	0.66979	0.948;0.948	T	0.52786	-0.8529	10	0.30078	T	0.28	.	6.1632	0.20376	0.3422:0.0:0.5147:0.1431	.	70;70	Q5DSZ9;P35504	.;UD15_HUMAN	N	70	ENSP00000362513:K70N	ENSP00000362513:K70N	K	+	3	2	UGT1A5	234286586	0.000000	0.05858	0.002000	0.10522	0.146000	0.21551	-2.157000	0.01282	-0.031000	0.13781	0.449000	0.29647	AAA	-	pfam_UDP_glucos_trans		0.527	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	protein_coding	OTTHUMT00000130985.1	A	NM_019078	-		234621847	1	no_errors	ENST00000373414	ensembl	human	known	74_37	missense	SNP	0.005	C	C	234621847	A	C	234621847	3	2	61	1	0	0	0	0	1	0	0	0	16955	69	3	5	212	5	UGT1A5	2	234621847	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	46272180	234621847	8577526	12	3361											
C2orf54	79919	genome.wustl.edu	37	chr2	241835404	241835404	+	Missense_Mutation	SNP	G	G	T													tggctgaggtggggagagcaGgggcaggcatcccttcaaca							TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:241835404G>T	ENST00000388934.4	-	1	169	c.11C>A	c.(10-12)cCt>cAt	p.P4H		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	4										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGGGAGAGCAGGGGCAGGCAT	0.697																																																	0								ENSG00000172478						4	5	5					2																	241835404		1968	4039	6007	C2orf54	SO:0001583	missense	0			-	HGNC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.11C>A	2.37:g.241835404G>T	ENSP00000373586:p.Pro4His	Somatic	0	75	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	119	8.46	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP							NULL	p.P4H	ENST00000388934.4	37	c.11	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726840	0.30593	.	.	ENSG00000172478	ENST00000388934;ENST00000414499	T	0.32515	1.45	1.38	1.38	0.22167	.	0.363539	0.19924	U	0.103006	T	0.15305	0.0369	L	0.27053	0.805	0.09310	N	1	D	0.56746	0.977	B	0.38803	0.282	T	0.14839	-1.0458	10	0.29301	T	0.29	9.026	6.1743	0.20434	0.0:0.0:1.0:0.0	.	4	Q08AI8	CB054_HUMAN	H	4	ENSP00000373586:P4H	ENSP00000373586:P4H	P	-	2	0	C2orf54	241484077	0.013000	0.17824	0.010000	0.14722	0.035000	0.12851	1.195000	0.32186	1.080000	0.41073	0.561000	0.74099	CCT	-	NULL		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	protein_coding	OTTHUMT00000324353.1	G	NM_024861, NM_001085437	-		241835404	-1	no_errors	ENST00000388934	ensembl	human	known	74_37	missense	SNP	0.006	T	T	241835404	G	T	241835404	3	4	61	1	0	0	0	0	1	0	0	0	2177	1000	35	3	1366	3	C2orf54	2	241835404	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	7213557	241835404	1363969	13	3362	46	2									
C2orf54	79919	genome.wustl.edu	37	chr2	241835405	241835405	+	Missense_Mutation	SNP	G	G	T													ggctgaggtggggagagcagGggcaggcatcccttcaacag							TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:241835405G>T	ENST00000388934.4	-	1	168	c.10C>A	c.(10-12)Cct>Act	p.P4T		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	4										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGGAGAGCAGGGGCAGGCATC	0.692																																																	0								ENSG00000172478						4	5	5					2																	241835405		1969	4036	6005	C2orf54	SO:0001583	missense	0			-	HGNC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.10C>A	2.37:g.241835405G>T	ENSP00000373586:p.Pro4Thr	Somatic	0	74	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	118	8.53	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP							NULL	p.P4T	ENST00000388934.4	37	c.10	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385778	0.25031	.	.	ENSG00000172478	ENST00000388934;ENST00000414499	T	0.32272	1.46	1.38	0.406	0.16366	.	0.363539	0.19924	U	0.103006	T	0.14917	0.0360	L	0.27053	0.805	0.09310	N	1	B	0.28378	0.209	B	0.18263	0.021	T	0.11155	-1.0599	10	0.37606	T	0.19	9.026	3.2505	0.06812	0.3151:0.0:0.6849:0.0	.	4	Q08AI8	CB054_HUMAN	T	4	ENSP00000373586:P4T	ENSP00000373586:P4T	P	-	1	0	C2orf54	241484078	0.012000	0.17670	0.009000	0.14445	0.038000	0.13279	0.537000	0.23144	0.124000	0.18369	0.561000	0.74099	CCT	-	NULL		0.692	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	protein_coding	OTTHUMT00000324353.1	G	NM_024861, NM_001085437	-		241835405	-1	no_errors	ENST00000388934	ensembl	human	known	74_37	missense	SNP	0.004	T	T	241835405	G	T	241835405	3	4	61	1	0	0	0	0	1	0	0	0	2177	1232	43	3	1367	3	C2orf54	2	241835405	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	1	241835405	1363968	14	3363	46	2									
CELSR3	1951	genome.wustl.edu	37	chr3	48677609	48677609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcccgtgacccgaagcGgccagccatggcgccagggt	14	16	0	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:48677609G>A	ENST00000164024.4	-	34	9689	c.9409C>T	c.(9409-9411)Cgc>Tgc	p.R3137C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3142C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3137					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)		GACCCGAAGCGGCCAGCCATG	0.697																																																	0								ENSG00000008300						34	36	35					3																	48677609		2201	4286	6487	CELSR3	SO:0001583	missense	0			-	HGNC	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.9409C>T	3.37:g.48677609G>A	ENSP00000164024:p.Arg3137Cys	Somatic	0	121	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	135	40.53	O75092	Missense_Mutation	SNP							pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R3142C	ENST00000164024.4	37	c.9424	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669062	0.47677	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71579	-0.58;-0.58	4.81	4.81	0.61882	.	.	.	.	.	T	0.73528	0.3598	L	0.27053	0.805	0.53688	D	0.999973	P;P;D	0.89917	0.669;0.539;1.0	B;B;D	0.80764	0.086;0.04;0.994	T	0.75814	-0.3185	9	0.62326	D	0.03	.	11.3281	0.49460	0.0:0.0:0.6829:0.3171	.	3142;3137;3235	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	C	3137;3142	ENSP00000164024:R3137C;ENSP00000445694:R3142C	ENSP00000164024:R3137C	R	-	1	0	CELSR3	48652613	0.999000	0.42202	0.999000	0.59377	0.935000	0.57460	1.733000	0.38156	2.209000	0.71365	0.555000	0.69702	CGC	-	NULL		0.697	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	G	NM_001407	-		48677609	-1	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	SNP	0.987	A	A	48677609	G	A	48677609	3	1	61	1	0	0	0	0	1	0	0	0	3225	1116	39	1	537	1	CELSR3	3	48677609	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09		48677609	149344821	15	3364											
PRKCD	5580	genome.wustl.edu	37	chr3	53218939	53218939	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggagaaggtggccaacctCtgcggcatcaaccagaagct	13	12	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:53218939C>T	ENST00000394729.2	+	9	1165	c.837C>T	c.(835-837)ctC>ctT	p.L279L	PRKCD_ENST00000330452.3_Silent_p.L279L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	279					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	TGGCCAACCTCTGCGGCATCA	0.612																																																	0								ENSG00000163932						84	80	81					3																	53218939		2203	4300	6503	PRKCD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.837C>T	3.37:g.53218939C>T		Somatic	0	34	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	40	48.05	B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.L279	ENST00000394729.2	37	c.837	CCDS2870.1	3																																																																																			-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.612	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	protein_coding	OTTHUMT00000257818.1	C		-		53218939	1	no_errors	ENST00000330452	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53218939	C	T	53218939	2	4	61	1	0	0	0	0	0	0	0	1	12514	900	32	2		2	PRKCD	3	53218939	Silent	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	4541330	53218939	144803491	16	3365											
KIAA2018	205717	genome.wustl.edu	37	chr3	113374951	113374951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggacattttcatgagttgGgggacaattatattcaattg	10	4	2	1	rs373048207		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:113374951G>C	ENST00000478658.1	-	5	5595	c.5578C>G	c.(5578-5580)Cca>Gca	p.P1860A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1860A			Q68DE3	K2018_HUMAN	KIAA2018	1860						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCATGAGTTGGGGGACAATTA	0.443																																																	0								ENSG00000176542		ALA/PRO	0,3808		0,0,1904	90	86	87		5578	4.1	0.6	3		87	1,8267		0,1,4133	no	missense	KIAA2018	NM_001009899.2	27	0,1,6037	CC,CG,GG		0.0121,0.0,0.0083	possibly-damaging	1860/2246	113374951	1,12075	1904	4134	6038	KIAA2018	SO:0001583	missense	0			-	HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5578C>G	3.37:g.113374951G>C	ENSP00000420721:p.Pro1860Ala	Somatic	0	69	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	69	38.39	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P1860A	ENST00000478658.1	37	c.5578	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	g	7.083	0.570558	0.13560	0.0	1.21E-4	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18502	2.21;2.21	5.9	4.12	0.48240	.	0.120605	0.56097	D	0.000028	T	0.09555	0.0235	N	0.17082	0.46	0.39972	D	0.974803	P	0.34864	0.473	B	0.31442	0.13	T	0.22765	-1.0207	10	0.44086	T	0.13	-7.1782	8.0193	0.30400	0.1382:0.1313:0.7306:0.0	.	1860	Q68DE3	K2018_HUMAN	A	1860	ENSP00000320794:P1860A;ENSP00000420721:P1860A	ENSP00000320794:P1860A	P	-	1	0	KIAA2018	114857641	0.999000	0.42202	0.614000	0.29051	0.941000	0.58515	3.091000	0.50199	0.844000	0.35094	-0.141000	0.14075	CCA	-	NULL		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	G	NM_001009899	-		113374951	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	SNP	0.940	C	C	113374951	G	C	113374951	3	2	61	1	0	0	0	0	1	0	0	0	8270	1232	43	4	1163	4	KIAA2018	3	113374951	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	60156012	113374951	84647479	17	3366											
FYB	2533	genome.wustl.edu	37	chr5	39119670	39119670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtctttttcttctttTtcctgcttttttagcttctt	4	9	4	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:39119670T>G	ENST00000351578.6	-	14	2257	c.2067A>C	c.(2065-2067)gaA>gaC	p.E689D	FYB_ENST00000512982.1_Missense_Mutation_p.E735D|FYB_ENST00000540520.1_Missense_Mutation_p.E745D|FYB_ENST00000515010.1_Missense_Mutation_p.E689D|FYB_ENST00000505428.1_Missense_Mutation_p.E735D	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	689					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTTCTTCTTTTTCCTGCTTTT	0.294																																																	0								ENSG00000082074						58	41	46					5																	39119670		1771	4021	5792	FYB	SO:0001583	missense	0			-	HGNC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2067A>C	5.37:g.39119670T>G	ENSP00000316460:p.Glu689Asp	Somatic	0	49	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	48	40.00	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.E745D	ENST00000351578.6	37	c.2235	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804116	0.70682	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.29142	1.59;1.59;1.58;1.58;1.59	4.91	3.75	0.43078	Src homology-3 domain (1);	0.365246	0.33419	N	0.004928	T	0.54631	0.1870	M	0.85859	2.78	0.39685	D	0.970968	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.58896	-0.7555	10	0.66056	D	0.02	-7.7507	8.2145	0.31503	0.0:0.0925:0.0:0.9075	.	745;689	B4DLN2;O15117	.;FYB_HUMAN	D	689;689;735;735;745;735	ENSP00000316460:E689D;ENSP00000426346:E689D;ENSP00000425845:E735D;ENSP00000427114:E735D;ENSP00000442840:E745D	ENSP00000316460:E689D	E	-	3	2	FYB	39155427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.771000	0.38542	0.844000	0.35094	0.477000	0.44152	GAA	-	superfamily_SH3_domain		0.294	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	protein_coding	OTTHUMT00000367098.1	T	NM_001465	-		39119670	-1	no_errors	ENST00000540520	ensembl	human	known	74_37	missense	SNP	1.000	G	G	39119670	T	G	39119670	3	3	61	1	0	0	0	0	1	0	0	0	6126	1838	64	5	304	5	FYB	5	39119670	Missense_Mutation	SNP	T	TCGA-DX-A48O-01A-11D-A307-09		39119670	141795590	18	3367											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595974	140595974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctggcaggaggctcagGgaccaatgagttcaagttcc	14	9	3	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:140595974G>T	ENST00000341948.4	+	1	2466	c.2279G>T	c.(2278-2280)gGg>gTg	p.G760V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	760					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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCTCAGGGACCAATGAG	0.547																																																	0								ENSG00000187372						120	120	120					5																	140595974		2203	4300	6503	PCDHB13	SO:0001583	missense	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2279G>T	5.37:g.140595974G>T	ENSP00000345491:p.Gly760Val	Somatic	0	134	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	141	42.21	A8K9V6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G760V	ENST00000341948.4	37	c.2279	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	10.81	1.456089	0.26161	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50277	0.75	3.82	0.866	0.19079	.	.	.	.	.	T	0.51432	0.1674	M	0.93150	3.385	0.20074	N	0.999935	P	0.45011	0.848	B	0.39119	0.291	T	0.53373	-0.8448	9	0.66056	D	0.02	.	2.941	0.05830	0.1699:0.1389:0.5486:0.1426	.	760	Q9Y5F0	PCDBD_HUMAN	V	760;760;706	ENSP00000345491:G760V	ENSP00000345491:G760V	G	+	2	0	PCDHB13	140576158	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.030000	0.12308	-0.068000	0.12953	0.305000	0.20034	GGG	-	NULL		0.547	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	G	NM_018933	-		140595974	1	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	SNP	0.015	T	T	140595974	G	T	140595974	3	4	61	1	0	0	0	0	1	0	0	0	11540	1232	43	3	2281	3	PCDHB13	5	140595974	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	101476304	140595974	40319286	19	3368											
GEMIN5	25929	genome.wustl.edu	37	chr5	154282137	154282137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggttgtctgtcagctccCctctttctgctgcagtctgg	10	13	5	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:154282137C>T	ENST00000285873.7	-	20	2903	c.2828G>A	c.(2827-2829)gGg>gAg	p.G943E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	943					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTCAGCTCCCCTCTTTCTGC	0.448																																																	0								ENSG00000082516						133	127	129					5																	154282137		2203	4300	6503	GEMIN5	SO:0001583	missense	0			-	HGNC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2828G>A	5.37:g.154282137C>T	ENSP00000285873:p.Gly943Glu	Somatic	0	54	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	43	48.19	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G943E	ENST00000285873.7	37	c.2828	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.136354	0.94517	.	.	ENSG00000082516	ENST00000285873	T	0.72505	-0.66	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85502	0.1192	10	0.66056	D	0.02	-20.6112	20.5948	0.99439	0.0:1.0:0.0:0.0	.	942;943	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	E	943	ENSP00000285873:G943E	ENSP00000285873:G943E	G	-	2	0	GEMIN5	154262330	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.822000	0.75277	2.873000	0.98535	0.563000	0.77884	GGG	-	NULL		0.448	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	protein_coding	OTTHUMT00000252507.1	C		-		154282137	-1	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154282137	C	T	154282137	3	4	61	1	0	0	0	0	1	0	0	0	6333	623	22	2	1734	2	GEMIN5	5	154282137	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	13686163	154282137	26633123	20	3369											
TNF	7124	genome.wustl.edu	37	chr6	31543603	31543603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggccccagggctccaggCggtgcttgttcctcagcctc	15	15	1	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:31543603C>T	ENST00000449264.2	+	1	260	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GGGCTCCAGGCGGTGCTTGTT	0.637									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0								ENSG00000232810						74	75	75					6																	31543603		2203	4300	6503	TNF	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	HGNC	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.85C>T	6.37:g.31543603C>T	ENSP00000398698:p.Arg29Trp	Somatic	0	57	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	7	86.27	O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF	p.R29W	ENST00000449264.2	37	c.85	CCDS4702.1	6	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068008	0.36470	.	.	ENSG00000232810	ENST00000449264	T	0.75938	-0.98	5.77	1.53	0.23141	.	0.301188	0.33005	N	0.005382	T	0.76126	0.3944	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.69172	-0.5215	10	0.42905	T	0.14	.	8.7152	0.34408	0.608:0.3174:0.0:0.0746	.	29	P01375	TNFA_HUMAN	W	29	ENSP00000398698:R29W	ENSP00000398698:R29W	R	+	1	2	TNF	31651582	0.005000	0.15991	0.027000	0.17364	0.378000	0.30076	0.140000	0.16056	-0.040000	0.13580	0.655000	0.94253	CGG	-	prints_TNF_alpha		0.637	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNF	protein_coding	OTTHUMT00000076390.2	C		-		31543603	1	no_errors	ENST00000449264	ensembl	human	known	74_37	missense	SNP	0.008	T	T	31543603	C	T	31543603	3	4	61	1	0	0	0	0	1	0	0	0	16278	759	27	1	87	1	TNF	6	31543603	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		31543603	139571464	21	3370											
GPSM3	63940	genome.wustl.edu	37	chr6	32159549	32159549	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaggacggagtggggcaggGgctaggcttgaggggttttg	22	4	0	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:32159549G>C	ENST00000375040.3	-	3	674	c.282C>G	c.(280-282)gcC>gcG	p.A94A	PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Silent_p.A91A|GPSM3_ENST00000375043.3_Silent_p.A94A	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	94					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						GTGGGGCAGGGGCTAGGCTTG	0.612																																																	0								ENSG00000213654						54	67	62					6																	32159549		1492	2702	4194	GPSM3	SO:0001819	synonymous_variant	0			-	HGNC	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"activator of G-protein signaling 4"		"chromosome 6 open reading frame 9", "G-protein signalling modulator 3 (AGS3-like, C. elegans)"	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.282C>G	6.37:g.32159549G>C		Somatic	0	32	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	A2BFJ3	Silent	SNP							pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.A94	ENST00000375040.3	37	c.282	CCDS34419.1	6																																																																																			-	NULL		0.612	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM3	protein_coding	OTTHUMT00000076509.1	G	NM_022107	-		32159549	-1	no_errors	ENST00000375040	ensembl	human	known	74_37	silent	SNP	0.000	C	C	32159549	G	C	32159549	2	2	61	1	0	0	0	0	0	0	0	1	6738	1219	43	4		4	GPSM3	6	32159549	Silent	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	615946	32159549	138955518	22	3371											
RIMS1	22999	genome.wustl.edu	37	chr6	73043425	73043425	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacggcagccagtcagacaCagctgtgggtacagttggag	15	9	1	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:73043425C>G	ENST00000521978.1	+	29	4253	c.4253C>G	c.(4252-4254)aCa>aGa	p.T1418R	RIMS1_ENST00000401910.3_Missense_Mutation_p.T738R|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.T1241R|RIMS1_ENST00000538414.1_Missense_Mutation_p.T224R|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.T1201R|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.T1267R|RIMS1_ENST00000348717.5_Missense_Mutation_p.T1201R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1418					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)				CAGTCAGACACAGCTGTGGGT	0.527																																																	0								ENSG00000079841						61	68	66					6																	73043425		2062	4194	6256	RIMS1	SO:0001583	missense	0			-	HGNC	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.4253C>G	6.37:g.73043425C>G	ENSP00000428417:p.Thr1418Arg	Somatic	0	59	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	97	10.19	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							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T1418R	ENST00000521978.1	37	c.4253	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.2|27.2|27.2	4.806808|4.806808|4.806808	0.90623|0.90623|0.90623	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|.|T;T;T;T;T;T;T;T;T	.|.|0.23950	.|.|2.11;2.45;2.24;2.45;2.18;2.31;2.18;1.88;1.89	5.66|5.66|5.66	5.66|5.66|5.66	0.87406|0.87406|0.87406	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000003	T|T|T	0.43656|0.43656|0.43656	0.1257|0.1257|0.1257	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D	.|.|0.76494	.|.|0.992;0.998;0.999;0.998;0.999;0.999;0.998	.|.|P;D;D;D;D;D;D	.|.|0.80764	.|.|0.838;0.99;0.986;0.991;0.994;0.994;0.986	T|T|T	0.26849|0.26849|0.26849	-1.0091|-1.0091|-1.0091	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-18.3136|-18.3136|-18.3136	20.1225|20.1225|20.1225	0.97967|0.97967|0.97967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|224;1267;738;1201;494;1241;1418	.|.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;RIMS1_HUMAN	Q|E|R	763|336|1241;1267;1241;1201;1267;1201;1418;738;583;466;224	.|.|ENSP00000430101:T1241R;ENSP00000275037:T1201R;ENSP00000264839:T1267R;ENSP00000429959:T1201R;ENSP00000428417:T1418R;ENSP00000385649:T738R;ENSP00000389503:T583R;ENSP00000359448:T466R;ENSP00000439730:T224R	.|.|ENSP00000264839:T1267R	H|Q|T	+|+|+	3|1|2	2|0|0	RIMS1|RIMS1|RIMS1	73100146|73100146|73100146	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.993000|0.993000|0.993000	0.49108|0.49108|0.49108	0.978000|0.978000|0.978000	0.69477|0.69477|0.69477	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.831000|2.831000|2.831000	0.97527|0.97527|0.97527	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CAG|ACA	-	NULL		0.527	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	C		-		73043425	1	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73043425	C	G	73043425	3	3	61	1	0	0	0	0	1	0	0	0	13375	478	17	4	4530	4	RIMS1	6	73043425	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	40883876	73043425	98071642	23	3372											
SYNCRIP	10492	genome.wustl.edu	37	chr6	86333723	86333723	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgctaaattcttcaagaatCtgttccttggttttactctt	5	8	4	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:86333723C>G	ENST00000369622.3	-	7	1274	c.774G>C	c.(772-774)caG>caC	p.Q258H	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.Q258H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	258	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTTCAAGAATCTGTTCCTTGG	0.353																																																	0								ENSG00000135316						106	103	104					6																	86333723		2203	4300	6503	SYNCRIP	SO:0001583	missense	0			-	HGNC	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.774G>C	6.37:g.86333723C>G	ENSP00000358635:p.Gln258His	Somatic	0	55	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	61	47.41	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Q258H	ENST00000369622.3	37	c.774	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671765	0.47781	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.17213	2.29;2.29	5.85	3.14	0.36123	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	L	0.33293	1	0.51012	D	0.999908	P;D;B;P;D;P;P	0.58268	0.73;0.982;0.298;0.671;0.961;0.683;0.844	P;P;B;P;P;B;P	0.58013	0.491;0.831;0.229;0.51;0.725;0.358;0.491	T	0.02167	-1.1202	10	0.87932	D	0	.	9.109	0.36716	0.0:0.6366:0.0:0.3634	.	258;258;160;106;258;258;258	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	258	ENSP00000347380:Q258H;ENSP00000358635:Q258H	ENSP00000347380:Q258H	Q	-	3	2	SYNCRIP	86390442	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.767000	0.26575	0.390000	0.25115	-0.252000	0.11476	CAG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.353	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	protein_coding	OTTHUMT00000041396.1	C	NM_006372	-		86333723	-1	no_errors	ENST00000369622	ensembl	human	known	74_37	missense	SNP	1.000	G	G	86333723	C	G	86333723	3	3	61	1	0	0	0	0	1	0	0	0	15451	912	32	4	1163	4	SYNCRIP	6	86333723	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	13290298	86333723	84781344	24	3373											
AEBP1	165	genome.wustl.edu	37	chr7	44153323	44153323	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggccactcagtgcaacttCatcctggctcgctccaactg	10	15	2	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:44153323C>A	ENST00000223357.3	+	21	3245	c.2940C>A	c.(2938-2940)ttC>ttA	p.F980L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.F555L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	980	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGTGCAACTTCATCCTGGCTC	0.622																																																	0								ENSG00000106624						121	112	115					7																	44153323		2203	4300	6503	AEBP1	SO:0001583	missense	0			-	HGNC	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2940C>A	7.37:g.44153323C>A	ENSP00000223357:p.Phe980Leu	Somatic	0	53	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	52	50.00	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.F980L	ENST00000223357.3	37	c.2940	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772788	0.69992	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.15139	2.45;2.45	4.98	2.07	0.26955	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.86805	2.84	0.49915	D	0.999839	D;D	0.76494	0.99;0.999	D;D	0.91635	0.979;0.999	T	0.23655	-1.0182	10	0.72032	D	0.01	-28.2859	8.0838	0.30760	0.0:0.6633:0.0:0.3367	.	555;980	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	L	980;555	ENSP00000223357:F980L;ENSP00000398878:F555L	ENSP00000223357:F980L	F	+	3	2	AEBP1	44119848	0.083000	0.21467	0.867000	0.34043	0.727000	0.41649	0.585000	0.23879	0.216000	0.20781	-0.259000	0.10710	TTC	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	protein_coding	OTTHUMT00000250993.2	C	NM_001129	-		44153323	1	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	SNP	0.997	A	A	44153323	C	A	44153323	3	1	61	1	0	0	0	0	1	0	0	0	349	825	29	3	3022	3	AEBP1	7	44153323	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		44153323	114985340	25	3374											
ZAN	7455	genome.wustl.edu	37	chr7	100364861	100364861	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcagcatctcactgcTcagaggctgtaaggtcatgg	11	11	4	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:100364861T>C	ENST00000348028.3	+	0	5006				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCTCACTGCTCAGAGGCTGT	0.592																																																	0								ENSG00000146839						48	49	49					7																	100364861		2131	4227	6358	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364861T>C		Somatic	0	62	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	51	41.38	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L1614P	ENST00000348028.3	37	c.4841		7	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106636	0.37145	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.63	4.63	0.57726	von Willebrand factor, type D domain (3);	1.157700	0.06636	N	0.760074	T	0.57873	0.2083	M	0.62088	1.915	0.43360	D	0.99543	B;B	0.27013	0.138;0.166	B;B	0.28638	0.037;0.092	T	0.44128	-0.9348	10	0.31617	T	0.26	.	10.9797	0.47486	0.0:0.0:0.0:1.0	.	1614;1614	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	1614;1614;1614;191	ENSP00000445943:L1614P;ENSP00000445091:L1614P;ENSP00000444427:L1614P;ENSP00000441117:L191P	ENSP00000423579:L1614P	L	+	2	0	ZAN	100202797	0.004000	0.15560	0.741000	0.31004	0.254000	0.26022	0.295000	0.19065	2.035000	0.60131	0.459000	0.35465	CTC	-	pfam_VWF_type-D,smart_VWF_type-D		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	T	NM_003386	-		100364861	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.774	C	C	100364861	T	C	100364861	1	2	61	0	1	0	0	0	0	0	0	0	17520	1551	54	5		5	ZAN	7	100364861	RNA	SNP	T	TCGA-DX-A48O-01A-11D-A307-09	56211538	100364861	58773802	26	3375											
MEST	4232	genome.wustl.edu	37	chr7	130140375	130140375	+	Splice_Site	DEL	T	T	-													tctttgtattctctcgagggTaagtgtcactgtcaaagatt							TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:130140375delT	ENST00000223215.4	+	8	868		c.e8+2		MEST_ENST00000341441.5_Splice_Site|MEST_ENST00000393187.1_Splice_Site|MEST_ENST00000378576.4_Splice_Site|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000416162.2_Splice_Site|MEST_ENST00000462132.1_Splice_Site|MEST_ENST00000437945.1_Splice_Site	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTCTCGAGGGTAAGTGTCACT	0.443																																					Colon(126;2182 2305 6517 35181)												0								ENSG00000106484						73	63	66					7																	130140375		2203	4300	6503	MEST	SO:0001630	splice_region_variant	0				HGNC		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.647+2T>-	7.37:g.130140375delT		Somatic	0	46	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	57	42.42	B2R6S1|O14973|O15007|Q6AI49|Q92571	Splice_Site	DEL							-	e8+2	ENST00000223215.4	37	c.647+2	CCDS5822.1	7																																																																																			-	-		0.443	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEST	protein_coding	OTTHUMT00000345183.2	T	NM_002402		Intron	130140375	1	no_errors	ENST00000223215	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	130140375	T	-	130140375	8	5	61	1	0	1	0	1	0	0	1	0	9486	1652	57	0	679	0	MEST	7	130140375	Splice_Site	DEL	T	TCGA-DX-A48O-01A-11D-A307-09	29775514	130140375	28998288	27	3376											
GIMAP6	474344	genome.wustl.edu	37	chr7	150325422	150325422	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaatcacctcaagctccttCccagcccactctcggctccg	5	20	4	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:150325422C>A	ENST00000328902.5	-	3	480	c.264G>T	c.(262-264)ggG>ggT	p.G88G	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	88	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGCTCCTTCCCAGCCCACT	0.592																																																	0								ENSG00000133561						113	115	114					7																	150325422		2203	4300	6503	GIMAP6	SO:0001819	synonymous_variant	0			-	HGNC	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.264G>T	7.37:g.150325422C>A		Somatic	0	51	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	46	49.45	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.G88	ENST00000328902.5	37	c.264	CCDS34778.1	7																																																																																			-	pfam_AIG1,superfamily_P-loop_NTPase		0.592	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	protein_coding	OTTHUMT00000353457.1	C	NM_024711	-		150325422	-1	no_errors	ENST00000328902	ensembl	human	known	74_37	silent	SNP	0.008	A	A	150325422	C	A	150325422	2	1	61	1	0	0	0	0	0	0	0	1	6385	842	30	3		3	GIMAP6	7	150325422	Silent	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	20185047	150325422	8813241	28	3377											
NEFM	4741	genome.wustl.edu	37	chr8	24774755	24774755	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatagaggaaaccaaagtgGaggatgagaagtcagaaatg	13	4	2	3			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:24774755G>T	ENST00000221166.5	+	3	2169	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E463*|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E463*|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E87*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	463	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCAAAGTGGAGGATGAGAA	0.443																																																	0								ENSG00000104722						74	74	74					8																	24774755		2203	4300	6503	NEFM	SO:0001587	stop_gained	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1387G>T	8.37:g.24774755G>T	ENSP00000221166:p.Glu463*	Somatic	0	31	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	33	47.62	B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP							pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E463*	ENST00000221166.5	37	c.1387	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.110279	0.98070	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.8	4.8	0.61643	.	0.000000	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8109	0.88616	0.0:0.0:1.0:0.0	.	.	.	.	X	463;463;463;87	.	ENSP00000221166:E463X	E	+	1	0	NEFM	24830660	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.393000	0.97256	2.357000	0.79964	0.467000	0.42956	GAG	-	NULL		0.443	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	G	NM_005382	-		24774755	1	no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	24774755	G	T	24774755	4	4	61	1	0	0	0	0	0	1	0	0	10318	1175	41	3	1397	3	NEFM	8	24774755	Nonsense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09		24774755	121589267	29	3378											
PRKDC	5591	genome.wustl.edu	37	chr8	48746783	48746783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttatccacctcgtccCctggaaggcccagccttttt	7	15	0	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:48746783C>T	ENST00000314191.2	-	60	8179	c.8123G>A	c.(8122-8124)gGg>gAg	p.G2708E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G2708E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2709	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CACCTCGTCCCCTGGAAGGCC	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						245	248	247					8																	48746783		1978	4166	6144	PRKDC	SO:0001583	missense	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8123G>A	8.37:g.48746783C>T	ENSP00000313420:p.Gly2708Glu	Somatic	0	117	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	233	8.63	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G2708E	ENST00000314191.2	37	c.8123		8	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323294	0.41096	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02323	4.41;4.34	5.27	3.45	0.39498	.	0.398796	0.23389	N	0.048714	T	0.03348	0.0097	L	0.47716	1.5	0.34788	D	0.73545	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.004	T	0.28554	-1.0040	10	0.12430	T	0.62	.	12.02	0.53337	0.0:0.857:0.0:0.143	.	2708;2709	E7EUY0;P78527	.;PRKDC_HUMAN	E	2708	ENSP00000313420:G2708E;ENSP00000345182:G2708E	ENSP00000313420:G2708E	G	-	2	0	PRKDC	48909336	0.748000	0.28294	0.787000	0.31911	0.984000	0.73092	1.586000	0.36611	0.585000	0.29608	0.563000	0.77884	GGG	-	NULL		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		C	NM_001081640	-		48746783	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	SNP	0.962	T	T	48746783	C	T	48746783	3	4	61	1	0	0	0	0	1	0	0	0	12526	623	22	2	4372	2	PRKDC	8	48746783	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	23972028	48746783	97617239	30	3379											
TRPA1	8989	genome.wustl.edu	37	chr8	72952031	72952031	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggttattttgtaccattGcctgagaaataaaaaaaagt	8	5	0	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:72952031G>A	ENST00000262209.4	-	18	2270	c.2063C>T	c.(2062-2064)gCa>gTa	p.A688V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	688					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTACCATTGCCTGAGAAAT	0.294																																																	0								ENSG00000104321						79	82	81					8																	72952031		2203	4293	6496	TRPA1	SO:0001630	splice_region_variant	0			-	HGNC	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2062-1C>T	8.37:g.72952031G>A		Somatic	0	28	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	A6NIN6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A688V	ENST00000262209.4	37	c.2063	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422120	0.43020	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77620	-1.11;-1.11	5.22	1.01	0.19927	.	0.270118	0.41500	N	0.000862	T	0.64940	0.2644	L	0.46157	1.445	0.31327	N	0.685333	B	0.11235	0.004	B	0.09377	0.004	T	0.54655	-0.8261	10	0.18276	T	0.48	-0.8054	7.7671	0.28986	0.3956:0.0:0.6044:0.0	.	688	O75762	TRPA1_HUMAN	V	540;688	ENSP00000428151:A540V;ENSP00000262209:A688V	ENSP00000262209:A688V	A	-	2	0	TRPA1	73114585	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	1.576000	0.36504	-0.124000	0.11724	0.591000	0.81541	GCA	-	NULL		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	protein_coding	OTTHUMT00000379079.2	G	NM_007332	-	Missense_Mutation	72952031	-1	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72952031	G	A	72952031	5	1	61	1	0	0	0	0	0	0	1	0	16584	1333	46	2	1336	2	TRPA1	8	72952031	Splice_Site	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	24205248	72952031	73411991	31	3380											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110499030	110499030	+	Frame_Shift_Del	DEL	A	A	-													actggttggctcattcactgAaaatatgatgacatttaaag							TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:110499030delA	ENST00000378402.5	+	59	9964	c.9860delA	c.(9859-9861)gaafs	p.E3287fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3287					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)			TCATTCACTGAAAATATGATG	0.368										HNSCC(38;0.096)																																							0								ENSG00000205038						204	199	201					8																	110499030		1909	4106	6015	PKHD1L1	SO:0001589	frameshift_variant	0				HGNC	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.9860delA	8.37:g.110499030delA	ENSP00000367655:p.Glu3287fs	Somatic	0	82	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	100	45.05	Q567P2|Q9UF27	Frame_Shift_Del	DEL							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.N3288fs	ENST00000378402.5	37	c.9860	CCDS47911.1	8																																																																																			-	superfamily_Pectin_lyase_fold/virulence		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	A	NM_177531			110499030	1	no_errors	ENST00000378402	ensembl	human	known	74_37	frame_shift_del	DEL	0.077	-	-	110499030	A	-	110499030	7	5	61	1	0	1	0	1	0	0	0	0	11974	246	9	0	10094	0	PKHD1L1	8	110499030	Frame_Shift_Del	DEL	A	TCGA-DX-A48O-01A-11D-A307-09	37546999	110499030	35864992	32	3381											
FXN	2395	genome.wustl.edu	37	chr9	71687569	71687569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgggaaaaactgggtgtActcccacgacggcgtgtccc	13	12	0	0	rs1052201		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr9:71687569A>C	ENST00000377270.3	+	5	1048	c.524A>C	c.(523-525)tAc>tCc	p.Y175S	FXN_ENST00000396366.2_Missense_Mutation_p.T178P|FXN_ENST00000498653.1_Missense_Mutation_p.Y100S|FXN_ENST00000396364.3_Intron	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	175				Y -> F (in Ref. 1; AAA98508/AAA98510). {ECO:0000305}.	adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						AACTGGGTGTACTCCCACGAC	0.498																																																	0								ENSG00000165060						136	113	121					9																	71687569		2203	4300	6503	FXN	SO:0001583	missense	0			-	HGNC	U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"Friedreich ataxia"	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.524A>C	9.37:g.71687569A>C	ENSP00000366482:p.Tyr175Ser	Somatic	0	94	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	106	41.11	A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Missense_Mutation	SNP							pfam_Frataxin/CyaY,superfamily_Frataxin/CyaY,pfscan_Frataxin/CyaY,prints_Frataxin/CyaY,tigrfam_Frataxin,tigrfam_Frataxin/CyaY	p.Y175S	ENST00000377270.3	37	c.524	CCDS6626.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.12|14.12	2.439482|2.439482	0.43326|0.43326	.|.	.|.	ENSG00000165060|ENSG00000165060	ENST00000396366|ENST00000377270;ENST00000498653	D|D;D	0.96265|0.96334	-3.96|-3.98;-3.98	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97167|0.97167	0.9074|0.9074	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	P|D	0.48503|0.89917	0.911|1.0	P|D	0.44394|0.81914	0.448|0.995	D|D	0.96559|0.96559	0.9414|0.9414	9|10	0.30854|0.33940	T|T	0.27|0.23	-18.2155|-18.2155	14.18|14.18	0.65568|0.65568	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	178|175	A8MXJ6|Q16595	.|FRDA_HUMAN	P|S	178|175;100	ENSP00000379652:T178P|ENSP00000366482:Y175S;ENSP00000418015:Y100S	ENSP00000379652:T178P|ENSP00000366482:Y175S	T|Y	+|+	1|2	0|0	FXN|FXN	70877389|70877389	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.500000|0.500000	0.33767|0.33767	8.832000|8.832000	0.92079|0.92079	1.830000|1.830000	0.53286|0.53286	0.460000|0.460000	0.39030|0.39030	ACT|TAC	-	pfam_Frataxin/CyaY,superfamily_Frataxin/CyaY,pfscan_Frataxin/CyaY,tigrfam_Frataxin,tigrfam_Frataxin/CyaY		0.498	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXN	protein_coding	OTTHUMT00000052568.2	A	NM_000144	-		71687569	1	no_errors	ENST00000377270	ensembl	human	known	74_37	missense	SNP	0.999	C	C	71687569	A	C	71687569	3	2	61	1	0	0	0	0	1	0	0	0	6116	391	14	5	550	5	FXN	9	71687569	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09		71687569	69525862	33	3382											
TUBAL3	79861	genome.wustl.edu	37	chr10	5436364	5436364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagacgtaaaccctgaacCagtgcctcctccaaagcttc	8	14	0	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:5436364C>T	ENST00000380419.3	-	4	494	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G113S	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	153					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AACCCTGAACCAGTGCCTCCT	0.473																																																	0								ENSG00000178462						62	66	65					10																	5436364		2203	4300	6503	TUBAL3	SO:0001583	missense	0			-	HGNC	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.457G>A	10.37:g.5436364C>T	ENSP00000369784:p.Gly153Ser	Somatic	0	29	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G153S	ENST00000380419.3	37	c.457	CCDS7066.2	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354182	0.61293	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.96200	-3.94;-3.94	4.55	4.55	0.56014	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47455	D	0.000228	D	0.98346	0.9451	H	0.94503	3.545	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.99490	1.0950	10	0.87932	D	0	.	16.7952	0.85600	0.0:1.0:0.0:0.0	.	113;153	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	S	153;113	ENSP00000369784:G153S;ENSP00000418799:G113S	ENSP00000369784:G153S	G	-	1	0	TUBAL3	5426364	1.000000	0.71417	0.159000	0.22649	0.057000	0.15508	7.624000	0.83124	2.475000	0.83589	0.650000	0.86243	GGT	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.473	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	protein_coding	OTTHUMT00000046548.2	C	NM_024803	-		5436364	-1	no_errors	ENST00000380419	ensembl	human	known	74_37	missense	SNP	0.996	T	T	5436364	C	T	5436364	3	4	61	1	0	0	0	0	1	0	0	0	16758	594	21	2	887	2	TUBAL3	10	5436364	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		5436364	130098383	34	3383											
ATRNL1	26033	genome.wustl.edu	37	chr10	117059564	117059564	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagtatcaccttgggtaggCttgcgcaagatcaatatatc	9	8	2	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:117059564C>A	ENST00000355044.3	+	16	2562	c.2436C>A	c.(2434-2436)ggC>ggA	p.G812G	ATRNL1_ENST00000423111.2_5'Flank|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	812	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)		CTTGGGTAGGCTTGCGCAAGA	0.403																																																	0								ENSG00000107518						113	106	109					10																	117059564		2203	4300	6503	ATRNL1	SO:0001819	synonymous_variant	0			-	HGNC	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.2436C>A	10.37:g.117059564C>A		Somatic	0	81	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	10	87.18	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G812	ENST00000355044.3	37	c.2436	CCDS7592.1	10																																																																																			-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.403	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	C	XM_049349	-		117059564	1	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	SNP	1.000	A	A	117059564	C	A	117059564	2	1	61	1	0	0	0	0	0	0	0	1	1207	784	28	3		3	ATRNL1	10	117059564	Silent	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	111623200	117059564	18475183	35	3384											
C10orf93	54777	genome.wustl.edu	37	chr10	134755529	134755529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacaggtctgggctgaaGctctctgaggggtcaaactc	12	10	3	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:134755529G>A	ENST00000368586.5	-	2	229	c.129C>T	c.(127-129)agC>agT	p.S43S	RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Silent_p.S43S|TTC40_ENST00000368585.3_Silent_p.S43S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGGGCTGAAGCTCTCTGAGG	0.562																																																	0								ENSG00000171811						122	119	120					10																	134755529		692	1591	2283	TTC40	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000368586.5:c.129C>T	10.37:g.134755529G>A		Somatic	0	70	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	15	75.00		Silent	SNP							NULL	p.S43	ENST00000368586.5	37	c.129	CCDS58101.1	10																																																																																			-	NULL		0.562	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	protein_coding	OTTHUMT00000051095.3	G		-		134755529	-1	no_errors	ENST00000368582	ensembl	human	known	74_37	silent	SNP	1.000	A	A	134755529	G	A	134755529	2	1	61	1	0	0	0	0	0	0	0	1	1627	962	34	2		2	C10orf93	10	134755529	Silent	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	17695965	134755529	779218	36	3385											
CYP2E1	1571	genome.wustl.edu	37	chr10	135350749	135350749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagaggatacctcatcCccaaggttaagcaatgagcc	8	11	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:135350749C>A	ENST00000463117.2	+	9	1422	c.1150C>A	c.(1150-1152)Ccc>Acc	p.P384T	CYP2E1_ENST00000252945.3_Missense_Mutation_p.P384T|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	384					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|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)	p.P384S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATACCTCATCCCCAAGGTTAA	0.562									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	prostate(1)						ENSG00000130649						163	110	128					10																	135350749		2203	4300	6503	CYP2E1	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	HGNC	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1150C>A	10.37:g.135350749C>A	ENSP00000440689:p.Pro384Thr	Somatic	0	40	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	15	76.92	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P384T	ENST00000463117.2	37	c.1150	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210564	0.58343	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;D	0.86956	4.32;4.32;1.94;-2.19	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94306	3.52	0.46874	D	0.99923	D;D	0.76494	0.999;0.993	D;D	0.76575	0.988;0.91	D	0.96142	0.9101	10	0.87932	D	0	.	15.8859	0.79247	0.0:1.0:0.0:0.0	.	280;384	Q59EW1;P05181	.;CP2E1_HUMAN	T	384;384;297;247	ENSP00000440689:P384T;ENSP00000252945:P384T;ENSP00000412754:P297T;ENSP00000397299:P247T	ENSP00000252945:P384T	P	+	1	0	CYP2E1	135200739	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	6.912000	0.75753	2.689000	0.91719	0.650000	0.86243	CCC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B		0.562	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	protein_coding	OTTHUMT00000051161.2	C	NM_000773	-		135350749	1	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135350749	C	A	135350749	3	1	61	1	0	0	0	0	1	0	0	0	4172	623	22	3	1176	3	CYP2E1	10	135350749	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	595220	135350749	183998	37	3386											
TRIM21	6737	genome.wustl.edu	37	chr11	4409555	4409555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccagtgctgagctgTggcaccttcgatctagctct	11	12	2	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr11:4409555T>C	ENST00000254436.7	-	4	822	c.710A>G	c.(709-711)cAc>cGc	p.H237R	TRIM21_ENST00000543625.1_Missense_Mutation_p.H237R	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	237					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGCTGAGCTGTGGCACCTTCG	0.547																																																	0								ENSG00000132109						70	70	70					11																	4409555		1978	4163	6141	TRIM21	SO:0001583	missense	0			-	HGNC	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.710A>G	11.37:g.4409555T>C	ENSP00000254436:p.His237Arg	Somatic	0	46	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	11	78.85	Q5XPV5|Q96RF8	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.H237R	ENST00000254436.7	37	c.710	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	T	0.282	-0.985748	0.02180	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.05855	3.38;3.38	4.34	0.229	0.15368	.	0.781993	0.11125	N	0.597002	T	0.02012	0.0063	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46205	-0.9208	10	0.33141	T	0.24	.	6.2731	0.20965	0.0:0.4911:0.0:0.5089	.	237	P19474	RO52_HUMAN	R	237	ENSP00000254436:H237R;ENSP00000444045:H237R	ENSP00000254436:H237R	H	-	2	0	TRIM21	4366131	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.113000	0.15499	0.046000	0.15833	0.533000	0.62120	CAC	-	NULL		0.547	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	protein_coding	OTTHUMT00000385842.1	T	NM_003141	-		4409555	-1	no_errors	ENST00000254436	ensembl	human	known	74_37	missense	SNP	0.016	C	C	4409555	T	C	4409555	3	2	61	1	0	0	0	0	1	0	0	0	16502	1696	59	5	733	5	TRIM21	11	4409555	Missense_Mutation	SNP	T	TCGA-DX-A48O-01A-11D-A307-09		4409555	130596961	38	3387											
DNHD1	144132	genome.wustl.edu	37	chr11	6569107	6569107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaggacctcagctatAgtgatcctgtggcccaaagc	10	12	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr11:6569107A>G	ENST00000527990.2	+	20	6742	c.6742A>G	c.(6742-6744)Agt>Ggt	p.S2248G	DNHD1_ENST00000254579.6_Missense_Mutation_p.S2248G			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2248					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCAGCTATAGTGATCCTGT	0.473																																																	0								ENSG00000179532						52	45	47					11																	6569107		692	1591	2283	DNHD1	SO:0001583	missense	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6742A>G	11.37:g.6569107A>G	ENSP00000436180:p.Ser2248Gly	Somatic	0	55	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	4	87.88	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.S2248G	ENST00000527990.2	37	c.6742	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054788	0.36277	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.28255	1.62;1.62	5.59	0.147	0.14838	.	1.144020	0.06334	N	0.706740	T	0.22898	0.0553	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.27806	-1.0063	10	0.24483	T	0.36	.	2.7256	0.05213	0.3909:0.0:0.251:0.358	.	2248	Q96M86	DNHD1_HUMAN	G	2248;2248;539	ENSP00000254579:S2248G;ENSP00000436180:S2248G	ENSP00000254579:S2248G	S	+	1	0	DNHD1	6525683	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.368000	0.20399	0.369000	0.24510	0.533000	0.62120	AGT	-	NULL		0.473	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	A	NM_144666	-		6569107	1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	SNP	0.000	G	G	6569107	A	G	6569107	3	3	61	1	0	0	0	0	1	0	0	0	4670	420	15	5	6829	5	DNHD1	11	6569107	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	2159552	6569107	128437409	39	3388											
CD163	9332	genome.wustl.edu	37	chr12	7640492	7640492	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagcccagatctgtcCatttccctctccaaagtgag	6	14	4	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr12:7640492C>A	ENST00000359156.4	-	7	1814	c.1612G>T	c.(1612-1614)Gga>Tga	p.G538*	CD163_ENST00000396620.3_Nonsense_Mutation_p.G538*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Nonsense_Mutation_p.G538*|CD163_ENST00000541972.1_Nonsense_Mutation_p.G526*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	538	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGATCTGTCCATTTCCCTCT	0.537																																																	0								ENSG00000177575						99	86	91					12																	7640492		2203	4300	6503	CD163	SO:0001587	stop_gained	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1612G>T	12.37:g.7640492C>A	ENSP00000352071:p.Gly538*	Somatic	0	78	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	66	51.82	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G538*	ENST00000359156.4	37	c.1612	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.216559	0.97385	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.33	5.33	0.75918	.	0.394741	0.24907	N	0.034642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	.	.	.	X	538;526;538;538	.	ENSP00000352071:G538X	G	-	1	0	CD163	7531759	0.337000	0.24766	0.960000	0.40013	0.626000	0.37791	4.669000	0.61575	2.663000	0.90544	0.655000	0.94253	GGA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416	-		7640492	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	SNP	0.979	A	A	7640492	C	A	7640492	4	1	61	1	0	0	0	0	0	1	0	0	2969	603	21	3	1898	3	CD163	12	7640492	Nonsense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		7640492	126211403	40	3389											
STAB2	55576	genome.wustl.edu	37	chr12	104054498	104054498	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catctccacccctcacatcaGgagcatggccaaccagctca	6	18	4	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr12:104054498G>C	ENST00000388887.2	+	17	2030	c.1826G>C	c.(1825-1827)aGg>aCg	p.R609T	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCACATCAGGAGCATGGCC	0.483																																																	0								ENSG00000136011						212	176	188					12																	104054498		2203	4300	6503	STAB2	SO:0001583	missense	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1826G>C	12.37:g.104054498G>C	ENSP00000373539:p.Arg609Thr	Somatic	0	75	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	74	43.51		Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R609T	ENST00000388887.2	37	c.1826	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008163	0.19199	.	.	ENSG00000136011	ENST00000388887	D	0.91124	-2.79	5.63	4.74	0.60224	FAS1 domain (5);	0.292144	0.30959	N	0.008530	T	0.81069	0.4746	L	0.33339	1.005	0.28210	N	0.926989	B	0.29552	0.248	B	0.22152	0.038	T	0.67496	-0.5656	10	0.13108	T	0.6	.	6.4392	0.21841	0.151:0.0:0.7008:0.1482	.	609	Q8WWQ8	STAB2_HUMAN	T	609	ENSP00000373539:R609T	ENSP00000373539:R609T	R	+	2	0	STAB2	102578628	0.611000	0.26992	0.851000	0.33527	0.593000	0.36681	1.493000	0.35605	1.375000	0.46248	0.655000	0.94253	AGG	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	G		-		104054498	1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	SNP	0.827	C	C	104054498	G	C	104054498	3	2	61	1	0	0	0	0	1	0	0	0	15245	1000	35	4	1892	4	STAB2	12	104054498	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	96414006	104054498	29797397	41	3390											
DENND4A	10260	genome.wustl.edu	37	chr15	65982790	65982790	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggtgaatcttgaatacCatttgcttgctttctctgca	7	9	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:65982790C>T	ENST00000431932.2	-	22	4218	c.4010G>A	c.(4009-4011)tGg>tAg	p.W1337*	DENND4A_ENST00000567323.1_5'UTR|DENND4A_ENST00000443035.3_Nonsense_Mutation_p.W1380*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCTTGAATACCATTTGCTTGC	0.373																																																	0								ENSG00000174485						126	115	119					15																	65982790		2006	4166	6172	DENND4A	SO:0001587	stop_gained	0			-	HGNC	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4010G>A	15.37:g.65982790C>T	ENSP00000396830:p.Trp1337*	Somatic	0	154	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	139	184	43.03	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.W1380*	ENST00000431932.2	37	c.4139	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	45	11.363709	0.99551	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	.	.	.	X	1380;1337	.	ENSP00000396830:W1337X	W	-	2	0	DENND4A	63769844	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.347000	0.52200	2.576000	0.86940	0.650000	0.86243	TGG	-	NULL		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	protein_coding	OTTHUMT00000419611.1	C	NM_005848	-		65982790	-1	no_errors	ENST00000443035	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	65982790	C	T	65982790	4	4	61	1	0	0	0	0	0	1	0	0	4435	595	21	2	1625	2	DENND4A	15	65982790	Nonsense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		65982790	36548602	42	3391											
BBS4	585	genome.wustl.edu	37	chr15	73022025	73022025	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaccctaccaactacaaGgtattacaggctgtgaaggc	9	10	0	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:73022025G>A	ENST00000268057.4	+	10	752	c.711G>A	c.(709-711)aaG>aaA	p.K237K	BBS4_ENST00000542334.1_Splice_Site_p.K65K|BBS4_ENST00000539603.1_Splice_Site_p.K225K|BBS4_ENST00000395205.2_Splice_Site_p.K245K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	237	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CCAACTACAAGGTATTACAGG	0.433									Bardet-Biedl syndrome																																								0								ENSG00000140463						154	130	138					15																	73022025		2198	4297	6495	BBS4	SO:0001630	splice_region_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	-	HGNC	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.711+1G>A	15.37:g.73022025G>A		Somatic	0	71	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	92	38.67	B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP							pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K245	ENST00000268057.4	37	c.735	CCDS10246.1	15																																																																																			-	pfscan_TPR-contain_dom		0.433	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	protein_coding	OTTHUMT00000257473.2	G	NM_033028	-	Silent	73022025	1	no_errors	ENST00000395205	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73022025	G	A	73022025	5	1	61	1	0	0	0	0	0	0	1	0	1339	1014	35	2	749	2	BBS4	15	73022025	Splice_Site	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	7039235	73022025	29509367	43	3392											
AP3B2	8120	genome.wustl.edu	37	chr15	83328314	83328314	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagcatttggaagtcActgggtcagagcctgtatca	12	9	4	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:83328314A>C	ENST00000261722.3	-	26	3454	c.3247T>G	c.(3247-3249)Tga>Gga	p.*1083G	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonstop_Mutation_p.*1051G|AP3B2_ENST00000535359.1_Nonstop_Mutation_p.*1102G	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	0					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTGGAAGTCACTGGGTCAGA	0.527																																																	0								ENSG00000103723						104	99	101					15																	83328314		2054	4199	6253	AP3B2	SO:0001578	stop_lost	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3247T>G	15.37:g.83328314A>C	ENSP00000261722:p.*1083Argext*16	Somatic	0	36	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	50	50.98	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Nonstop_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.*1083G	ENST00000261722.3	37	c.3247	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069348	0.55539	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	.	.	.	4.88	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8976	0.52665	0.8538:0.1462:0.0:0.0	.	.	.	.	G	1083;1051;1102	.	.	X	-	1	0	AP3B2	81125369	1.000000	0.71417	0.622000	0.29159	0.762000	0.43233	8.677000	0.91203	0.794000	0.33899	0.379000	0.24179	TGA	-	NULL		0.527	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	A		-		83328314	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	nonstop	SNP	1.000	C	C	83328314	A	C	83328314	4	2	61	1	0	0	0	0	0	0	0	0	745	172	6	5	5	5	AP3B2	15	83328314	Nonstop_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	10306289	83328314	19203078	44	3393											
TP53	7157	genome.wustl.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	21	10	0	1	rs587782144		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	GRCh37	CM994513	TP53	M		ENSG00000141510						49	51	50					17																	7578457		2203	4300	6503	TP53	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;	-	HGNC	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.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	Somatic	0	31	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	9	80.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R158H	ENST00000269305.4	37	c.473	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578457	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.989	T	T	7578457	C	T	7578457	3	4	61	1	0	0	0	0	1	0	0	0	16388	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		7578457	73616753	45	3394											
IKZF3	22806	genome.wustl.edu	37	chr17	37922593	37922593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaggtgggagcaggcGgtgtctggaccaaggggcgc	19	10	2	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:37922593G>A	ENST00000346872.3	-	8	1041	c.980C>T	c.(979-981)cCg>cTg	p.P327L	IKZF3_ENST00000467757.1_Missense_Mutation_p.P271L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P249L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P232L|IKZF3_ENST00000351680.3_Missense_Mutation_p.P288L|IKZF3_ENST00000394189.2_Missense_Mutation_p.P145L|IKZF3_ENST00000350532.3_Missense_Mutation_p.P288L|IKZF3_ENST00000377958.2_Missense_Mutation_p.P240L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P293L|IKZF3_ENST00000583368.1_Missense_Mutation_p.P80L|IKZF3_ENST00000377952.2_Missense_Mutation_p.P106L|IKZF3_ENST00000377945.3_Missense_Mutation_p.P193L|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000439167.2_Missense_Mutation_p.P254L|IKZF3_ENST00000377944.3_Missense_Mutation_p.P184L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	327					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)			GGGAGCAGGCGGTGTCTGGAC	0.572																																																	0								ENSG00000161405						92	84	87					17																	37922593		2203	4300	6503	IKZF3	SO:0001583	missense	0			-	HGNC	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.980C>T	17.37:g.37922593G>A	ENSP00000344544:p.Pro327Leu	Somatic	0	46	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	46	47.13	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P327L	ENST00000346872.3	37	c.980	CCDS11346.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.673847|4.673847	0.88445|0.88445	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.10382|.	3.13;3.33;3.1;2.88;3.43;3.14;3.13;3.14;2.92;4.1|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	D|D	0.83436|0.83436	0.5254|0.5254	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|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;0.999;1.0;1.0;0.986;1.0;1.0;1.0;0.991|.	D;D;D;D;D;D;D;D;P;D;D;D;P|.	0.97110|.	1.0;0.966;0.966;0.966;1.0;0.971;1.0;0.966;0.629;0.964;1.0;1.0;0.772|.	D|D	0.83790|0.83790	0.0230|0.0230	10|5	0.44086|.	T|.	0.13|.	-9.5688|-9.5688	19.9156|19.9156	0.97061|0.97061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	240;106;145;193;184;293;249;232;288;271;288;254;327|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	L|C	327;232;193;145;184;240;106;293;288;249;288;271|242;281	ENSP00000367180:P193L;ENSP00000377741:P145L;ENSP00000367179:P184L;ENSP00000367194:P240L;ENSP00000367188:P106L;ENSP00000438972:P293L;ENSP00000345622:P288L;ENSP00000341977:P249L;ENSP00000344471:P288L;ENSP00000420463:P271L|.	ENSP00000341977:P249L|.	P|R	-|-	2|1	0|0	IKZF3|IKZF3	35176119|35176119	1.000000|1.000000	0.71417|0.71417	0.225000|0.225000	0.23894|0.23894	0.795000|0.795000	0.44927|0.44927	9.869000|9.869000	0.99810|0.99810	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CCG|CGC	-	NULL		0.572	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	protein_coding	OTTHUMT00000257004.2	G	NM_012481	-		37922593	-1	no_errors	ENST00000346872	ensembl	human	known	74_37	missense	SNP	0.998	A	A	37922593	G	A	37922593	3	1	61	1	0	0	0	0	1	0	0	0	7618	1116	39	1	553	1	IKZF3	17	37922593	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	30344136	37922593	43272617	46	3395											
ANKRD5	63926	genome.wustl.edu	37	chr20	10030397	10030397	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggaggggtcaatattaatGaattctttaaaggaaccaga	11	4	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:10030397G>T	ENST00000378380.3	+	6	1509	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.E394*|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	394							calcium ion binding (GO:0005509)										CAATATTAATGAATTCTTTAA	0.428																																																	0								ENSG00000132623						47	57	54					20																	10030397		2194	4297	6491	ANKEF1	SO:0001587	stop_gained	0			-	HGNC	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1180G>T	20.37:g.10030397G>T	ENSP00000367631:p.Glu394*	Somatic	0	37	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	52	39.53	B3KUQ0|Q9H6Y9	Nonsense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.E394*	ENST00000378380.3	37	c.1180	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.137402	0.98088	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	.	.	.	5.86	5.86	0.93980	.	0.437279	0.30168	N	0.010256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.4872	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	394	.	ENSP00000367631:E394X	E	+	1	0	ANKRD5	9978397	1.000000	0.71417	0.560000	0.28344	0.340000	0.28889	8.794000	0.91867	2.937000	0.99478	0.650000	0.86243	GAA	-	pfscan_Ankyrin_rpt-contain_dom		0.428	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	protein_coding	OTTHUMT00000077968.2	G	NM_022096	-		10030397	1	no_errors	ENST00000378380	ensembl	human	known	74_37	nonsense	SNP	0.995	T	T	10030397	G	T	10030397	4	4	61	1	0	0	0	0	0	1	0	0	676	1291	45	3	1198	3	ANKRD5	20	10030397	Nonsense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09		10030397	52995123	47	3396											
TSHZ2	128553	genome.wustl.edu	37	chr20	51870593	51870593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctcggtgcagttgtaccGacagagcagcaagatgtgcg	14	10	0	2	rs139565246	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:51870593G>A	ENST00000371497.5	+	2	1483	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R196Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R196Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	199					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGTTGTACCGACAGAGCAGC	0.577																																																	0								ENSG00000182463	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61	58	59		587,596	5.2	1	20	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	43,43	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	196/1032,199/1035	51870593	6,13000	2203	4300	6503	TSHZ2	SO:0001583	missense	0			-	HGNC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.596G>A	20.37:g.51870593G>A	ENSP00000360552:p.Arg199Gln	Somatic	0	51	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	47	55.66	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.R199Q	ENST00000371497.5	37	c.596	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.338393	0.95783	2.27E-4	5.81E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.24538	1.85;1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50566	-0.8813	10	0.87932	D	0	-11.1601	19.0899	0.93223	0.0:0.0:1.0:0.0	.	199	Q9NRE2	TSH2_HUMAN	Q	199;196	ENSP00000360552:R199Q;ENSP00000333114:R196Q	ENSP00000333114:R196Q	R	+	2	0	TSHZ2	51304000	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	CGA	-	NULL		0.577	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	G	NM_173485	rs139565246		51870593	1	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51870593	G	A	51870593	3	1	61	1	0	0	0	0	1	0	0	0	16631	1058	37	1	602	1	TSHZ2	20	51870593	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	41840196	51870593	11154927	48	3397											
PCNT	5116	genome.wustl.edu	37	chr21	47848501	47848501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcaccagctgcgcaggCagggtgggtgtcactgtcta	16	10	2	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr21:47848501C>T	ENST00000359568.5	+	35	7794	c.7687C>T	c.(7687-7689)Cag>Tag	p.Q2563*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2563					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTGCGCAGGCAGGGTGGGTG	0.682																																																	0								ENSG00000160299						11	12	11					21																	47848501		2177	4281	6458	PCNT	SO:0001587	stop_gained	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7687C>T	21.37:g.47848501C>T	ENSP00000352572:p.Gln2563*	Somatic	0	12	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	O43152|Q7Z7C9	Nonsense_Mutation	SNP							pfam_PACT_domain	p.Q2563*	ENST00000359568.5	37	c.7687	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	48	14.834946	0.99812	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.51	3.61	0.41365	.	0.602111	0.12668	N	0.449003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	12.2676	0.54686	0.3227:0.6773:0.0:0.0	.	.	.	.	X	2563	.	ENSP00000352572:Q2563X	Q	+	1	0	PCNT	46672929	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.045000	0.49838	1.170000	0.42753	0.563000	0.77884	CAG	-	NULL		0.682	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	C	NM_006031	-		47848501	1	no_errors	ENST00000359568	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	47848501	C	T	47848501	4	4	61	1	0	0	0	0	0	1	0	0	11592	711	25	2	7825	2	PCNT	21	47848501	Nonsense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		47848501	281394	49	3398											
SLC5A4	6527	genome.wustl.edu	37	chr22	32617002	32617002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgaagaacccagcacaggCggtacagctgaacagggacc	12	13	0	2	rs74530943	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr22:32617002C>A	ENST00000266086.4	-	14	1684	c.1673G>T	c.(1672-1674)cGc>cTc	p.R558L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	558					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCAGCACAGGCGGTACAGCTG	0.403																																																	0								ENSG00000100191						147	128	135					22																	32617002		2203	4300	6503	SLC5A4	SO:0001583	missense	0			-	HGNC	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1673G>T	22.37:g.32617002C>A	ENSP00000266086:p.Arg558Leu	Somatic	0	87	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	143	8.92	O15279	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R558L	ENST00000266086.4	37	c.1673	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842747	0.51057	.	.	ENSG00000100191	ENST00000266086	D	0.81821	-1.54	4.49	3.48	0.39840	.	0.060319	0.64402	D	0.000003	D	0.88179	0.6367	M	0.92026	3.265	0.58432	D	0.999992	P	0.50528	0.936	P	0.54544	0.755	D	0.89321	0.3640	10	0.87932	D	0	.	10.1909	0.43026	0.0:0.9026:0.0:0.0974	.	558	Q9NY91	SC5A4_HUMAN	L	558	ENSP00000266086:R558L	ENSP00000266086:R558L	R	-	2	0	SLC5A4	30947002	1.000000	0.71417	0.650000	0.29550	0.226000	0.24999	4.284000	0.58983	1.109000	0.41680	0.467000	0.42956	CGC	-	NULL		0.403	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	protein_coding	OTTHUMT00000315724.1	C	NM_014227	-		32617002	-1	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	SNP	0.999	A	A	32617002	C	A	32617002	3	1	61	1	0	0	0	0	1	0	0	0	14675	768	27	3	314	3	SLC5A4	22	32617002	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09		32617002	18687564	50	3399											
RFPL3	10738	genome.wustl.edu	37	chr22	32754084	32754084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggttgtcacttgtcacaaCtaacaggctttcacctcaag	7	11	4	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr22:32754084C>A	ENST00000249007.4	+	1	231	c.26C>A	c.(25-27)aCt>aAt	p.T9N	RFPL3_ENST00000382088.3_5'Flank|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	9							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTGTCACAACTAACAGGCTT	0.478																																																	0								ENSG00000128276						110	110	110					22																	32754084		2203	4299	6502	RFPL3	SO:0001583	missense	0			-	HGNC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.26C>A	22.37:g.32754084C>A	ENSP00000249007:p.Thr9Asn	Somatic	0	121	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	149	40.87	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP							pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.T9N	ENST00000249007.4	37	c.26	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	4.928	0.172341	0.09391	.	.	ENSG00000128276	ENST00000249007	T	0.52754	0.65	0.586	-1.17	0.09648	.	.	.	.	.	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.09930	-1.0652	8	0.87932	D	0	.	.	.	.	.	9	O75679	RFPL3_HUMAN	N	9	ENSP00000249007:T9N	ENSP00000249007:T9N	T	+	2	0	RFPL3	31084084	0.414000	0.25408	0.002000	0.10522	0.118000	0.20060	0.733000	0.26087	-0.351000	0.08249	0.194000	0.17425	ACT	-	NULL		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	protein_coding	OTTHUMT00000075172.3	C	NM_006604	-		32754084	1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	SNP	0.003	A	A	32754084	C	A	32754084	3	1	61	1	0	0	0	0	1	0	0	0	13263	565	20	3	28	3	RFPL3	22	32754084	Missense_Mutation	SNP	C	TCGA-DX-A48O-01A-11D-A307-09	137082	32754084	18550482	51	3400											
CXorf59	286464	genome.wustl.edu	37	chrX	36117934	36117934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttctattgttatagaaAtgtctaaatttgaagcctgg	8	4	2	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:36117934A>G	ENST00000313548.4	+	7	976	c.790A>G	c.(790-792)Atg>Gtg	p.M264V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	264						integral component of membrane (GO:0016021)											TGTTATAGAAATGTCTAAATT	0.328																																																	0								ENSG00000176034						92	98	96					X																	36117934		2202	4299	6501	CHDC2	SO:0001583	missense	0			-	HGNC	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.790A>G	X.37:g.36117934A>G	ENSP00000324767:p.Met264Val	Somatic	0	103	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	102	109	48.11		Missense_Mutation	SNP							pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.M264V	ENST00000313548.4	37	c.790	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	A	6.874	0.530601	0.13127	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	3.4	0.38934	.	0.554118	0.16414	N	0.215471	T	0.28599	0.0708	L	0.40543	1.245	0.09310	N	1	B	0.28082	0.2	B	0.19666	0.026	T	0.13980	-1.0489	9	0.28530	T	0.3	-4.088	6.0523	0.19792	0.725:0.0:0.275:0.0	.	264	Q8N9S7	CX059_HUMAN	V	264	.	ENSP00000324767:M264V	M	+	1	0	CXorf59	36027855	0.251000	0.23961	0.008000	0.14137	0.134000	0.20937	1.026000	0.30103	0.808000	0.34231	0.412000	0.27726	ATG	-	NULL		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	protein_coding		A	NM_173695	-		36117934	1	no_errors	ENST00000313548	ensembl	human	known	74_37	missense	SNP	0.003	G	G	36117934	A	G	36117934	3	3	61	1	0	0	0	0	1	0	0	0	4117	101	4	5	812	5	CXorf59	23	36117934	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09		36117934	119152626	52	3401											
AR	367	genome.wustl.edu	37	chrX	66765155	66765155	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccggcgccagtttgctgcTgctgcagcagcagcagcagc	13	15	0	0			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:66765155T>A	ENST00000374690.3	+	1	691	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L56Q|AR_ENST00000504326.1_Missense_Mutation_p.L56Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	56	Modulating.|Poly-Leu.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGTTTGCTGCTGCTgcagcag	0.662									Androgen Insensitivity Syndrome																																								0								ENSG00000169083						10	13	12					X																	66765155		2155	4231	6386	AR	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.167T>A	X.37:g.66765155T>A	ENSP00000363822:p.Leu56Gln	Somatic	0	57	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	70	9.09	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP							pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.L56Q	ENST00000374690.3	37	c.167	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	N	8.315	0.823004	0.16678	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.59224	0.28;0.28;0.28	.	.	.	.	0.160911	0.29861	N	0.011003	T	0.42854	0.1221	N	0.02539	-0.55	0.09310	N	0.999999	B;B;D	0.76494	0.001;0.002;0.999	B;B;D	0.87578	0.0;0.0;0.998	T	0.42172	-0.9467	8	0.22109	T	0.4	.	.	.	.	.	56;56;54	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	56	ENSP00000363822:L56Q;ENSP00000421155:L56Q;ENSP00000379359:L56Q	ENSP00000363822:L56Q	L	+	2	0	AR	66681880	1.000000	0.71417	0.901000	0.35422	0.483000	0.33249	0.417000	0.21214	0.000000	0.14550	0.000000	0.15137	CTG	-	pfam_Andrgn_rcpt		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	T	NM_000044	-		66765155	1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	SNP	0.942	A	A	66765155	T	A	66765155	3	1	61	1	0	0	0	0	1	0	0	0	836	1580	55	5	169	5	AR	23	66765155	Missense_Mutation	SNP	T	TCGA-DX-A48O-01A-11D-A307-09	30647221	66765155	88505405	53	3402											
DLG3	1741	genome.wustl.edu	37	chrX	69699100	69699100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaacaagtgaaaagagGtccttgtatgtcaggtaagt	11	7	1	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:69699100G>T	ENST00000374360.3	+	10	1739	c.1506G>T	c.(1504-1506)agG>agT	p.R502S	DLG3_ENST00000542398.1_Missense_Mutation_p.R19S|DLG3_ENST00000194900.4_Missense_Mutation_p.R520S|DLG3_ENST00000374355.3_Missense_Mutation_p.R165S	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	502					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTGAAAAGAGGTCCTTGTATG	0.488																																																	0								ENSG00000082458						155	135	142					X																	69699100		2203	4300	6503	DLG3	SO:0001583	missense	0			-	HGNC	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1506G>T	X.37:g.69699100G>T	ENSP00000363480:p.Arg502Ser	Somatic	0	87	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	67	45.16	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R520S	ENST00000374360.3	37	c.1560	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819949	0.50633	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.43	4.5	0.54988	Src homology-3 domain (2);	0.000000	0.85682	U	0.000000	D	0.86896	0.6043	M	0.80422	2.495	0.58432	D	0.999999	P;D;P	0.54601	0.599;0.967;0.865	B;P;P	0.52267	0.284;0.694;0.599	D	0.87415	0.2378	9	.	.	.	.	11.85	0.52405	0.1009:0.0:0.8991:0.0	.	19;165;502	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	S	520;502;165;19	ENSP00000194900:R520S;ENSP00000363480:R502S;ENSP00000363475:R165S;ENSP00000441393:R19S	.	R	+	3	2	DLG3	69615825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.224000	0.32539	2.509000	0.84616	0.600000	0.82982	AGG	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain		0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	G	NM_021120	-		69699100	1	no_errors	ENST00000194900	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69699100	G	T	69699100	3	4	61	1	0	0	0	0	1	0	0	0	4558	1252	44	3	1682	3	DLG3	23	69699100	Missense_Mutation	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	2933945	69699100	85571460	54	3403											
FOXO4	4303	genome.wustl.edu	37	chrX	70320816	70320816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcagcccttgctctcgaAaccgtgaagaagccgatatg	11	12	1	2			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:70320816A>G	ENST00000374259.3	+	2	1068	c.736A>G	c.(736-738)Aac>Gac	p.N246D	FOXO4_ENST00000341558.3_Missense_Mutation_p.N191D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	246					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TTGCTCTCGAAACCGTGAAGA	0.587											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000184481						33	33	33					X																	70320816		2015	4172	6187	FOXO4	SO:0001583	missense	0			-	HGNC		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.736A>G	X.37:g.70320816A>G	ENSP00000363377:p.Asn246Asp	Somatic	0	41	0	1121	0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	87	10.20	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N246D	ENST00000374259.3	37	c.736	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001114	0.35320	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95377	-3.46;-3.69	5.11	5.11	0.69529	.	0.143832	0.64402	D	0.000010	D	0.89911	0.6852	N	0.14661	0.345	0.26441	N	0.975768	B;B;B	0.22211	0.008;0.066;0.015	B;B;B	0.24394	0.007;0.053;0.027	T	0.81571	-0.0872	10	0.35671	T	0.21	-26.1501	13.1883	0.59695	1.0:0.0:0.0:0.0	.	246;191;246	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	D	246;191	ENSP00000363377:N246D;ENSP00000342209:N191D	ENSP00000342209:N191D	N	+	1	0	FOXO4	70237541	1.000000	0.71417	0.905000	0.35620	0.817000	0.46193	8.761000	0.91691	1.908000	0.55244	0.422000	0.28245	AAC	-	NULL		0.587	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	protein_coding	OTTHUMT00000057115.1	A	NM_005938	-		70320816	1	no_errors	ENST00000374259	ensembl	human	known	74_37	missense	SNP	0.990	G	G	70320816	A	G	70320816	3	3	61	1	0	0	0	0	1	0	0	0	6027	14	1	5	742	5	FOXO4	23	70320816	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	621716	70320816	84949744	55	3404											
PCDH19	57526	genome.wustl.edu	37	chrX	99662489	99662489	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgatcagacacccgcaccaaGgcgatcacgtagcccggggg	13	15	2	1	rs199879056		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:99662489G>C	ENST00000373034.4	-	1	2782	c.1107C>G	c.(1105-1107)gcC>gcG	p.A369A	PCDH19_ENST00000255531.7_Silent_p.A369A|PCDH19_ENST00000420881.2_Silent_p.A369A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	369	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						CCCGCACCAAGGCGATCACGT	0.587																																																	0								ENSG00000165194						52	55	54					X																	99662489		2192	4265	6457	PCDH19	SO:0001819	synonymous_variant	0			-	HGNC	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.1107C>G	X.37:g.99662489G>C		Somatic	0	24	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A369	ENST00000373034.4	37	c.1107	CCDS55462.1	X																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	protein_coding	OTTHUMT00000057479.2	G	NM_020766	-		99662489	-1	no_errors	ENST00000373034	ensembl	human	known	74_37	silent	SNP	0.312	C	C	99662489	G	C	99662489	2	2	61	1	0	0	0	0	0	0	0	1	11516	987	35	4		4	PCDH19	23	99662489	Silent	SNP	G	TCGA-DX-A48O-01A-11D-A307-09	29341673	99662489	55608071	56	3405											
PLS3	5358	genome.wustl.edu	37	chrX	114863597	114863597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgtgctctgggtggaActtcagagttgtccagcgaa	13	7	2	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:114863597A>T	ENST00000420625.2	+	4	459	c.325A>T	c.(325-327)Act>Tct	p.T109S	PLS3_ENST00000537301.1_Missense_Mutation_p.T87S|PLS3_ENST00000355899.3_Missense_Mutation_p.T109S|PLS3_ENST00000539310.1_Missense_Mutation_p.T64S|PLS3_ENST00000289290.3_Missense_Mutation_p.T64S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	109	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGGTGGAACTTCAGAGTT	0.383																																					Colon(160;1047 1864 8490 12969 29601)												0								ENSG00000102024						131	115	121					X																	114863597		2203	4300	6503	PLS3	SO:0001583	missense	0			-	HGNC	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.325A>T	X.37:g.114863597A>T	ENSP00000398945:p.Thr109Ser	Somatic	0	53	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	67	43.22	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP							pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.T109S	ENST00000420625.2	37	c.325	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375447	0.61735	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	T;D;T;T;T	0.83914	-0.46;-1.78;0.93;-0.46;0.93	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64997	1.995	0.80722	D	1	P;B;B	0.49090	0.919;0.212;0.212	P;B;B	0.51453	0.67;0.094;0.058	D	0.84435	0.0579	10	0.39692	T	0.17	-16.8087	12.4048	0.55432	1.0:0.0:0.0:0.0	.	82;87;109	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	S	109;87;64;109;64	ENSP00000348163:T109S;ENSP00000445105:T87S;ENSP00000289290:T64S;ENSP00000398945:T109S;ENSP00000445339:T64S	ENSP00000289290:T64S	T	+	1	0	PLS3	114769853	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.116000	0.77119	1.806000	0.52798	0.481000	0.45027	ACT	-	NULL		0.383	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	protein_coding	OTTHUMT00000057976.2	A		-		114863597	1	no_errors	ENST00000355899	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114863597	A	T	114863597	3	4	61	1	0	0	0	0	1	0	0	0	12110	43	2	5	335	5	PLS3	23	114863597	Missense_Mutation	SNP	A	TCGA-DX-A48O-01A-11D-A307-09	15201108	114863597	40406963	57	3406											
TFDP3	51270	genome.wustl.edu	37	chrX	132352121	132352121	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggcataccaattaccactTgctggtcaatgttgacactg	9	10	1	1			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:132352121T>A	ENST00000310125.4	-	1	255	c.167A>T	c.(166-168)cAa>cTa	p.Q56L		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	56					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)					AATTACCACTTGCTGGTCAAT	0.562																																																	0								ENSG00000183434						97	78	85					X																	132352121		2203	4300	6503	TFDP3	SO:0001583	missense	0			-	HGNC	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.167A>T	X.37:g.132352121T>A	ENSP00000385461:p.Gln56Leu	Somatic	0	135	0		0.659349120967428				WXS	Illumina HiSeq 2500	Phase_IV	tier1	102	156	39.53	Q6DK49|Q9NZ54	Missense_Mutation	SNP							pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.Q56L	ENST00000310125.4	37	c.167	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451870	0.26074	.	.	ENSG00000183434	ENST00000310125	T	0.25085	1.82	0.235	0.235	0.15431	.	.	.	.	.	T	0.19805	0.0476	L	0.50333	1.59	0.40965	D	0.984658	B	0.14805	0.011	B	0.15484	0.013	T	0.08186	-1.0734	9	0.56958	D	0.05	.	4.7703	0.13153	0.0:3.0E-4:0.0:0.9997	.	56	Q5H9I0	TFDP3_HUMAN	L	56	ENSP00000385461:Q56L	ENSP00000385461:Q56L	Q	-	2	0	TFDP3	132179787	1.000000	0.71417	0.200000	0.23457	0.201000	0.24016	2.289000	0.43523	0.245000	0.21373	0.242000	0.17961	CAA	-	pirsf_Transcrpt_fac_DP		0.562	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	protein_coding	OTTHUMT00000058337.1	T	NM_016521	-		132352121	-1	no_errors	ENST00000310125	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132352121	T	A	132352121	3	1	61	1	0	0	0	0	1	0	0	0	15806	1812	63	5	1054	5	TFDP3	23	132352121	Missense_Mutation	SNP	T	TCGA-DX-A48O-01A-11D-A307-09	17488524	132352121	22918439	58	3407											
PRDM16	63976	genome.wustl.edu	37	chr1	3322205	3322206	+	Frame_Shift_Ins	INS	-	-	TG													tccacagcacggtgaagcctINSttcatatgtgagtggtcgcc							TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr1:3322205_3322206insTG	ENST00000270722.5	+	8	1228_1229	c.1179_1180insTG	c.(1180-1182)ttcfs	p.F394fs	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F394fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F395fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F395fs|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F394fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F395fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F394fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	394					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)		CGGTGAAGCCTTTCATATGTGA	0.698			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								ENSG00000142611																																			PRDM16	SO:0001589	frameshift_variant	0				HGNC	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	Exception_encountered	1.37:g.3322205_3322206insTG	ENSP00000270722:p.Phe394fs	Somatic	0	26	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	10	62.96	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Ins	INS							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.F393fs	ENST00000270722.5	37	c.1179_1180	CCDS41236.2	1																																																																																			-	pfscan_Znf_C2H2		0.698	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	-	NM_022114			3322206	1	no_errors	ENST00000270722	ensembl	human	known	74_37	frame_shift_ins	INS	0.994:1.000	TG	TG	3322206	-	TG	3322205	7	5	62	1	0	1	1	0	0	0	0	0	12462	1596	56	0	1209	0	PRDM16	1	3322205	Frame_Shift_Ins	INS	-	TCGA-DX-A48P-01A-11D-A307-09		3322205	245928416	1	3408											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74540359	74540359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaacctttttgaatgagaTgtcttgatgtttttgatttc	7	5	1	4			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr1:74540359T>C	ENST00000395089.1	-	5	982	c.983A>G	c.(982-984)cAt>cGt	p.H328R	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.H328R			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	328										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTGAATGAGATGTCTTGATGT	0.234																																																	0								ENSG00000162620						56	44	48					1																	74540359		1725	3966	5691	LRRIQ3	SO:0001583	missense	0			-	HGNC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.983A>G	1.37:g.74540359T>C	ENSP00000378524:p.His328Arg	Somatic	0	46	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	58	38.95	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP							pfscan_IQ_motif_EF-hand-BS	p.H328R	ENST00000395089.1	37	c.983	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	T	6.144	0.394734	0.11638	.	.	ENSG00000162620	ENST00000417067;ENST00000395089;ENST00000354431	T;T	0.11277	2.79;2.79	4.62	3.46	0.39613	.	0.705821	0.11701	N	0.537903	T	0.02807	0.0084	L	0.27053	0.805	0.09310	N	1	P	0.36616	0.561	B	0.34242	0.178	T	0.39522	-0.9610	10	0.72032	D	0.01	.	8.58	0.33623	0.0:0.0:0.1952:0.8048	.	328	A6PVS8	LRIQ3_HUMAN	R	39;328;328	ENSP00000378524:H328R;ENSP00000346414:H328R	ENSP00000346414:H328R	H	-	2	0	LRRIQ3	74312947	0.980000	0.34600	0.344000	0.25628	0.886000	0.51366	1.289000	0.33307	0.821000	0.34540	0.533000	0.62120	CAT	-	NULL		0.234	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	protein_coding	OTTHUMT00000316539.1	T	NM_145258	-		74540359	-1	no_errors	ENST00000354431	ensembl	human	known	74_37	missense	SNP	0.155	C	C	74540359	T	C	74540359	3	2	62	1	0	0	0	0	1	0	0	0	9032	1464	51	5	903	5	LRRIQ3	1	74540359	Missense_Mutation	SNP	T	TCGA-DX-A48P-01A-11D-A307-09	71218154	74540359	174710262	2	3409											
TRIM45	80263	genome.wustl.edu	37	chr1	117663697	117663697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactgtatgcaaacaagGcaagagcctgggggctttga	13	8	0	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr1:117663697G>A	ENST00000256649.4	-	1	653	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Missense_Mutation_p.P43S	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	43					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)		TGCAAACAAGGCAAGAGCCTG	0.562																																																	0								ENSG00000134253						59	63	61					1																	117663697		2203	4300	6503	TRIM45	SO:0001583	missense	0			-	HGNC		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.127C>T	1.37:g.117663697G>A	ENSP00000256649:p.Pro43Ser	Somatic	0	28	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	27	50.91	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.P43S	ENST00000256649.4	37	c.127	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868302	0.91587	.	.	ENSG00000134253	ENST00000256649;ENST00000369464	D;D	0.87029	-2.2;-2.2	5.26	5.26	0.73747	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.055984	0.64402	D	0.000001	D	0.90229	0.6945	L	0.59967	1.855	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.69307	0.933;0.963	D	0.89415	0.3706	10	0.46703	T	0.11	-12.6533	16.4044	0.83654	0.0:0.0:1.0:0.0	.	43;43	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	S	43	ENSP00000256649:P43S;ENSP00000358476:P43S	ENSP00000256649:P43S	P	-	1	0	TRIM45	117465220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.983000	0.88140	2.735000	0.93741	0.561000	0.74099	CCT	-	smart_Znf_RING,pfscan_Znf_RING		0.562	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	protein_coding	OTTHUMT00000033503.1	G	NM_025188	-		117663697	-1	no_errors	ENST00000256649	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117663697	G	A	117663697	3	1	62	1	0	0	0	0	1	0	0	0	16527	1203	42	2	1639	2	TRIM45	1	117663697	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	43123338	117663697	131586924	3	3410											
USH2A	7399	genome.wustl.edu	37	chr1	216172255	216172255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgagatatttattacCaggtaaaacgtattgtagca	8	5	0	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr1:216172255C>T	ENST00000307340.3	-	34	7017	c.6631G>A	c.(6631-6633)Ggt>Agt	p.G2211S	USH2A_ENST00000366943.2_Missense_Mutation_p.G2211S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2211	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTTATTACCAGGTAAAACG	0.373										HNSCC(13;0.011)																																							0								ENSG00000042781						106	106	106					1																	216172255		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6631G>A	1.37:g.216172255C>T	ENSP00000305941:p.Gly2211Ser	Somatic	0	86	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	92	39.07	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G2211S	ENST00000307340.3	37	c.6631	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241978	0.79912	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55930	0.49;0.49	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000403	T	0.71409	0.3336	M	0.73962	2.25	0.52501	D	0.999955	D	0.89917	1.0	D	0.79108	0.992	T	0.65651	-0.6116	10	0.17832	T	0.49	.	18.9695	0.92709	0.0:1.0:0.0:0.0	.	2211	O75445	USH2A_HUMAN	S	2211	ENSP00000305941:G2211S;ENSP00000355910:G2211S	ENSP00000305941:G2211S	G	-	1	0	USH2A	214238878	1.000000	0.71417	0.971000	0.41717	0.492000	0.33523	4.492000	0.60334	2.707000	0.92482	0.591000	0.81541	GGT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123	-		216172255	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216172255	C	T	216172255	3	4	62	1	0	0	0	0	1	0	0	0	17043	594	21	2	9133	2	USH2A	1	216172255	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	98508558	216172255	33078366	4	3411											
SCN9A	6335	genome.wustl.edu	37	chr2	167144952	167144952	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcaaataacagtacctcagCttcttcttgctcttttttaa	3	10	5	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr2:167144952C>G	ENST00000409435.1	-	9	1308	c.1309G>C	c.(1309-1311)Gct>Cct	p.A437P	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A438P|SCN9A_ENST00000409672.1_Missense_Mutation_p.A437P|SCN9A_ENST00000375387.4_Missense_Mutation_p.A438P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	437					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTACCTCAGCTTCTTCTTGC	0.388																																																	0								ENSG00000169432						129	136	134					2																	167144952		1836	4092	5928	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1309G>C	2.37:g.167144952C>G	ENSP00000386330:p.Ala437Pro	Somatic	0	62	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	99	41.07	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.A438P	ENST00000409435.1	37	c.1312	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350225	0.82132	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.96619	-4.05;-4.06;-4.06;-4.07;-0.4;-0.4	5.74	4.86	0.63082	.	0.305004	0.28436	N	0.015349	D	0.97548	0.9197	M	0.80508	2.5	0.50039	D	0.999844	P;D;P	0.56968	0.954;0.978;0.954	P;P;P	0.59825	0.786;0.864;0.786	D	0.97532	1.0080	10	0.56958	D	0.05	.	15.1606	0.72782	0.0:0.9311:0.0:0.0689	.	437;437;438	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	P	437;438;438;437;302;302	ENSP00000386306:A437P;ENSP00000364536:A438P;ENSP00000304748:A438P;ENSP00000386330:A437P;ENSP00000413212:A302P;ENSP00000393141:A302P	ENSP00000304748:A438P	A	-	1	0	SCN9A	166853198	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.710000	0.68392	2.712000	0.92718	0.650000	0.86243	GCT	-	NULL		0.388	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	C	NM_002977	-		167144952	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	1.000	G	G	167144952	C	G	167144952	3	3	62	1	0	0	0	0	1	0	0	0	13933	797	28	4	4696	4	SCN9A	2	167144952	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		167144952	76054421	5	3412											
LHFPL4	375323	genome.wustl.edu	37	chr3	9547832	9547832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccacacatgtcccggatGgtctcggcatcccagccatc	9	18	1	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr3:9547832G>A	ENST00000287585.6	-	3	747	c.462C>T	c.(460-462)acC>acT	p.T154T		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	167						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TGTCCCGGATGGTCTCGGCAT	0.632																																																	0								ENSG00000156959						124	105	111					3																	9547832		2203	4300	6503	LHFPL4	SO:0001819	synonymous_variant	0			-	HGNC	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.462C>T	3.37:g.9547832G>A		Somatic	0	61	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	63	45.22	A1L383|A4D0Q5	Silent	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.T154	ENST00000287585.6	37	c.462	CCDS33691.1	3																																																																																			-	pfam_Lipome_HGMIC_fus_partner-like		0.632	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	protein_coding	OTTHUMT00000338298.1	G	NM_198560	-		9547832	-1	no_errors	ENST00000287585	ensembl	human	known	74_37	silent	SNP	0.894	A	A	9547832	G	A	9547832	2	1	62	1	0	0	0	0	0	0	0	1	8769	1335	47	2		2	LHFPL4	3	9547832	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		9547832	188474598	6	3413											
CDHR4	389118	genome.wustl.edu	37	chr3	49830600	49830600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtcccctacctcccaCgatgctataggagtagatca	7	15	1	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr3:49830600C>T	ENST00000412678.2	-	13	1776	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	590	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)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTACCTCCCACGATGCTATAG	0.572																																																	0								ENSG00000187492						64	61	62					3																	49830600		692	1591	2283	CDHR4	SO:0001583	missense	0			-	HGNC		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"Cadherins / Cadherin-related"	34527	protein-coding gene	gene with protein product			"cadherin-like 29"	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1768G>A	3.37:g.49830600C>T	ENSP00000391409:p.Val590Met	Somatic	0	60	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	96	14.91	Q6UXT0	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V590M	ENST00000412678.2	37	c.1768	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	C	9.101	1.004151	0.19199	.	.	ENSG00000187492	ENST00000412678	T	0.22134	1.97	5.78	3.01	0.34805	Cadherin-like (1);	.	.	.	.	T	0.09069	0.0224	N	0.17082	0.46	0.80722	D	1	P	0.52842	0.956	B	0.32090	0.14	T	0.21042	-1.0257	9	0.32370	T	0.25	.	9.2583	0.37597	0.0:0.7699:0.0:0.2301	.	590	A6H8M9	CDHR4_HUMAN	M	590	ENSP00000391409:V590M	ENSP00000391409:V590M	V	-	1	0	CDHR4	49805604	0.874000	0.30092	0.651000	0.29564	0.196000	0.23810	1.187000	0.32090	0.366000	0.24427	0.650000	0.86243	GTG	-	superfamily_Cadherin-like		0.572	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	protein_coding	OTTHUMT00000350387.1	C	NM_001007540	-		49830600	-1	no_errors	ENST00000412678	ensembl	human	known	74_37	missense	SNP	0.789	T	T	49830600	C	T	49830600	3	4	62	1	0	0	0	0	1	0	0	0	3123	536	19	1	626	1	CDHR4	3	49830600	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	40282768	49830600	148191830	7	3414											
MAGI1	9223	genome.wustl.edu	37	chr3	65425575	65425576	+	Frame_Shift_Ins	INS	-	-	T													tctgtctgctgctgctgctgINSctgctgctgctgctgttgct							TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr3:65425575_65425576insT	ENST00000497477.2	-	9	1247_1248	c.1248_1249insA	c.(1246-1251)cagcagfs	p.Q417fs	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Frame_Shift_Ins_p.Q417fs|MAGI1_ENST00000402939.2_Frame_Shift_Ins_p.Q417fs|MAGI1_ENST00000483466.1_Frame_Shift_Ins_p.Q417fs			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	417	Poly-Gln.				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)			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)		tgctgctgctgctgctgctgct	0.55											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000151276																																			MAGI1	SO:0001589	frameshift_variant	0				HGNC	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.1248_1249insA	3.37:g.65425575_65425576insT	ENSP00000424369:p.Gln417fs	Somatic	0	61	0	1084	0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	108	10.00	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Ins	INS							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.Q416fs	ENST00000497477.2	37	c.1249_1248		3																																																																																			-	NULL		0.55	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	protein_coding	OTTHUMT00000349132.2	-	NM_004742			65425576	-1	no_errors	ENST00000402939	ensembl	human	known	74_37	frame_shift_ins	INS	0.437:0.220	T	T	65425576	-	T	65425575	7	5	62	1	0	1	1	0	0	0	0	0	9192	1328	46	0	3433	0	MAGI1	3	65425575	Frame_Shift_Ins	INS	-	TCGA-DX-A48P-01A-11D-A307-09	15594975	65425575	132596855	8	3415											
IFT122	55764	genome.wustl.edu	37	chr3	129226538	129226538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaggacacaatgcttgGcaagttctaccacttccagc	8	13	1	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr3:129226538G>T	ENST00000348417.2	+	23	2896	c.2819G>T	c.(2818-2820)gGc>gTc	p.G940V	IFT122_ENST00000431818.2_Missense_Mutation_p.G790V|IFT122_ENST00000349441.2_Missense_Mutation_p.G830V|IFT122_ENST00000504021.1_Missense_Mutation_p.G817V|IFT122_ENST00000347300.2_Missense_Mutation_p.G881V|IFT122_ENST00000296266.3_Missense_Mutation_p.G991V|IFT122_ENST00000440957.2_Missense_Mutation_p.G731V|IFT122_ENST00000507564.1_Missense_Mutation_p.G933V	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	940					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACAATGCTTGGCAAGTTCTAC	0.582																																																	0								ENSG00000163913						227	185	199					3																	129226538		2203	4300	6503	IFT122	SO:0001583	missense	0			-	HGNC	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2819G>T	3.37:g.129226538G>T	ENSP00000324005:p.Gly940Val	Somatic	0	46	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G991V	ENST00000348417.2	37	c.2972	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	G	8.656	0.899434	0.17686	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.60171	0.86;0.21;0.32;0.41;0.99;0.98;0.85;1.89	5.6	-1.09	0.09904	.	0.850636	0.10710	N	0.642940	T	0.31295	0.0792	N	0.08118	0	0.27421	N	0.954298	B;B;B;B;B;B;B;B;B;B	0.34103	0.0;0.0;0.437;0.0;0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.33042	0.001;0.002;0.157;0.003;0.001;0.001;0.001;0.002;0.0;0.002	T	0.20538	-1.0272	10	0.30854	T	0.27	-2.9309	7.0749	0.25199	0.6069:0.0:0.2693:0.1239	.	731;266;933;328;817;781;830;881;940;991	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	V	881;991;933;881;790;817;830;940;781;731	ENSP00000323973:G881V;ENSP00000296266:G991V;ENSP00000425536:G933V;ENSP00000410946:G790V;ENSP00000422179:G817V;ENSP00000324165:G830V;ENSP00000324005:G940V;ENSP00000401569:G731V	ENSP00000296266:G991V	G	+	2	0	IFT122	130709228	0.091000	0.21658	0.168000	0.22838	0.828000	0.46876	0.441000	0.21611	-0.064000	0.13043	0.561000	0.74099	GGC	-	NULL		0.582	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	protein_coding	OTTHUMT00000355852.1	G	NM_018262	-		129226538	1	no_errors	ENST00000296266	ensembl	human	known	74_37	missense	SNP	0.031	T	T	129226538	G	T	129226538	3	4	62	1	0	0	0	0	1	0	0	0	7557	1203	42	3	3069	3	IFT122	3	129226538	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	63800963	129226538	68795892	9	3416											
PLOD2	5352	genome.wustl.edu	37	chr3	145788914	145788914	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagagaacgctgtcgtTcaggggagtattttactaca	12	7	1	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr3:145788914T>A	ENST00000360060.3	-	18	2150	c.1973A>T	c.(1972-1974)gAa>gTa	p.E658V	PLOD2_ENST00000494950.1_Missense_Mutation_p.E624V|PLOD2_ENST00000461497.1_Missense_Mutation_p.E339V|RP11-274H2.2_ENST00000480247.1_RNA|RP11-274H2.3_ENST00000490375.1_RNA|RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.E679V	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	658	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACGCTGTCGTTCAGGGGAGTA	0.358																																																	0								ENSG00000152952						74	77	76					3																	145788914		2202	4300	6502	PLOD2	SO:0001583	missense	0			-	HGNC	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1973A>T	3.37:g.145788914T>A	ENSP00000353170:p.Glu658Val	Somatic	0	47	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	56	38.46	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP							pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E679V	ENST00000360060.3	37	c.2036	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484433	0.44147	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.9	4.9	0.64082	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.578836	0.19081	N	0.123255	T	0.78355	0.4270	M	0.62723	1.935	0.58432	D	0.999996	B;B;B;P	0.34699	0.053;0.019;0.009;0.464	B;B;B;B	0.39027	0.082;0.099;0.038;0.288	T	0.80233	-0.1467	10	0.72032	D	0.01	-0.9995	14.507	0.67761	0.0:0.0:0.0:1.0	.	624;658;679;339	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	V	339;679;658;624	ENSP00000419354:E339V;ENSP00000282903:E679V;ENSP00000353170:E658V;ENSP00000420094:E624V	ENSP00000282903:E679V	E	-	2	0	PLOD2	147271604	1.000000	0.71417	0.314000	0.25224	0.561000	0.35649	4.884000	0.63135	1.851000	0.53745	0.477000	0.44152	GAA	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.358	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	protein_coding	OTTHUMT00000355185.1	T	NM_000935	-		145788914	-1	no_errors	ENST00000282903	ensembl	human	known	74_37	missense	SNP	0.991	A	A	145788914	T	A	145788914	3	1	62	1	0	0	0	0	1	0	0	0	12104	1783	62	5	248	5	PLOD2	3	145788914	Missense_Mutation	SNP	T	TCGA-DX-A48P-01A-11D-A307-09	16562376	145788914	52233516	10	3417											
TBC1D1	23216	genome.wustl.edu	37	chr4	37904015	37904015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgagtgcaagcctcagcGtgttcacaaactgattcaca	8	11	3	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr4:37904015G>A	ENST00000261439.4	+	2	654	c.299G>A	c.(298-300)cGt>cAt	p.R100H	TBC1D1_ENST00000402522.1_Missense_Mutation_p.R100H|TBC1D1_ENST00000508802.1_Missense_Mutation_p.R100H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	100					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGCCTCAGCGTGTTCACAAA	0.483																																																	0								ENSG00000065882						140	128	132					4																	37904015		2203	4300	6503	TBC1D1	SO:0001583	missense	0			-	HGNC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.299G>A	4.37:g.37904015G>A	ENSP00000261439:p.Arg100His	Somatic	0	37	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	77	43.80	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.R100H	ENST00000261439.4	37	c.299	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	0.653	-0.808765	0.02819	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	T;T;T	0.16597	2.33;2.33;2.33	6.07	0.0851	0.14440	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.830495	0.10354	N	0.684731	T	0.03305	0.0096	N	0.00554	-1.385	0.18873	N	0.999987	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.41716	-0.9493	10	0.02654	T	1	-4.675	5.4583	0.16602	0.5033:0.0:0.3711:0.1256	.	100;100	E9PGH8;Q86TI0	.;TBCD1_HUMAN	H	100	ENSP00000423651:R100H;ENSP00000261439:R100H;ENSP00000383994:R100H	ENSP00000261439:R100H	R	+	2	0	TBC1D1	37580410	0.045000	0.20229	0.071000	0.20095	0.753000	0.42808	0.615000	0.24329	-0.169000	0.10834	-0.324000	0.08512	CGT	-	smart_PTB/PI_dom		0.483	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	G	NM_015173	-		37904015	1	no_errors	ENST00000261439	ensembl	human	known	74_37	missense	SNP	0.163	A	A	37904015	G	A	37904015	3	1	62	1	0	0	0	0	1	0	0	0	15604	1145	40	1	301	1	TBC1D1	4	37904015	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		37904015	153250261	11	3418											
TLR3	7098	genome.wustl.edu	37	chr4	186997801	186997801	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agactttgccttgtatctacTtttgggggggccttttgccc	11	10	1	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr4:186997801T>A	ENST00000296795.3	+	2	132	c.28T>A	c.(28-30)Ttt>Att	p.F10I		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	10					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGTATCTACTTTTGGGGGGG	0.448																																																	0								ENSG00000164342						103	98	99					4																	186997801		2203	4300	6503	TLR3	SO:0001583	missense	0			-	HGNC	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.28T>A	4.37:g.186997801T>A	ENSP00000296795:p.Phe10Ile	Somatic	0	42	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	56	41.05	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP							pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.F10I	ENST00000296795.3	37	c.28	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865987	0.32977	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.30448	1.63;1.53	5.68	1.86	0.25419	.	0.937897	0.09156	N	0.840870	T	0.21674	0.0522	L	0.40543	1.245	0.18873	N	0.999989	B	0.20459	0.045	B	0.21546	0.035	T	0.34453	-0.9828	10	0.42905	T	0.14	.	0.8387	0.01145	0.247:0.1481:0.1304:0.4745	.	10	O15455	TLR3_HUMAN	I	10	ENSP00000296795:F10I;ENSP00000423386:F10I	ENSP00000296795:F10I	F	+	1	0	TLR3	187234795	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	1.002000	0.29796	0.477000	0.27464	-0.438000	0.05819	TTT	-	NULL		0.448	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	T		-		186997801	1	no_errors	ENST00000296795	ensembl	human	known	74_37	missense	SNP	0.003	A	A	186997801	T	A	186997801	3	1	62	1	0	0	0	0	1	0	0	0	15959	1609	56	5	30	5	TLR3	4	186997801	Missense_Mutation	SNP	T	TCGA-DX-A48P-01A-11D-A307-09	149093786	186997801	4156475	12	3419											
PRDM9	56979	genome.wustl.edu	37	chr5	23523452	23523452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggaaaagataaatcctGggccaactggatgaggtaag	14	5	0	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr5:23523452G>T	ENST00000296682.3	+	9	1117	c.935G>T	c.(934-936)tGg>tTg	p.W312L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	312	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						GATAAATCCTGGGCCAACTGG	0.438										HNSCC(3;0.000094)																																							0								ENSG00000164256						126	121	123					5																	23523452		2203	4300	6503	PRDM9	SO:0001583	missense	0			-	HGNC	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.935G>T	5.37:g.23523452G>T	ENSP00000296682:p.Trp312Leu	Somatic	0	96	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	94	102	47.96	B4DX22|Q27Q50	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.W312L	ENST00000296682.3	37	c.935	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.799134	0.00617	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.38077	1.16	3.72	-7.29	0.01451	SET domain (2);	1.967040	0.02991	N	0.146808	T	0.11965	0.0291	N	0.03948	-0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	10	0.09338	T	0.73	0.443	3.879	0.09069	0.4377:0.0:0.1567:0.4056	.	312	Q9NQV7	PRDM9_HUMAN	L	312;106	ENSP00000296682:W312L	ENSP00000253473:W106L	W	+	2	0	PRDM9	23559209	0.155000	0.22806	0.006000	0.13384	0.099000	0.18886	0.634000	0.24614	-1.277000	0.02411	-0.212000	0.12691	TGG	-	pfscan_SET_dom		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	protein_coding	OTTHUMT00000366375.1	G	NM_020227	-		23523452	1	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	SNP	0.004	T	T	23523452	G	T	23523452	3	4	62	1	0	0	0	0	1	0	0	0	12468	1357	47	3	965	3	PRDM9	5	23523452	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		23523452	157391808	13	3420											
FST	10468	genome.wustl.edu	37	chr5	52781023	52781023	+	Frame_Shift_Del	DEL	G	G	-													gctgcctgctcctcaggtgtGctactggaagtaaagcactc							TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr5:52781023delG	ENST00000256759.3	+	5	1301	c.918delG	c.(916-918)gtgfs	p.V306fs	FST_ENST00000396947.3_Frame_Shift_Del_p.V306fs	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	306	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CCTCAGGTGTGCTACTGGAAG	0.517																																																	0								ENSG00000134363						130	113	118					5																	52781023		2203	4300	6503	FST	SO:0001589	frameshift_variant	0				HGNC	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.918delG	5.37:g.52781023delG	ENSP00000256759:p.Val306fs	Somatic	0	27	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	54	41.94	B5BU94|Q9BTH0	Frame_Shift_Del	DEL							pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.L307fs	ENST00000256759.3	37	c.918	CCDS3959.1	5																																																																																			-	pfam_Kazal_dom,smart_Kazal_dom		0.517	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	protein_coding	OTTHUMT00000253906.1	G	NM_013409			52781023	1	no_errors	ENST00000256759	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52781023	G	-	52781023	7	5	62	1	0	1	0	1	0	0	0	0	6078	1306	46	0	936	0	FST	5	52781023	Frame_Shift_Del	DEL	G	TCGA-DX-A48P-01A-11D-A307-09	29257571	52781023	128134237	14	3421											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720410	140720410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgggtctgcacacgggCgaggtgcgcacggcgcgagc	19	12	1	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr5:140720410C>T	ENST00000394576.2	+	1	1872	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	624	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)			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)			TGCACACGGGCGAGGTGCGCA	0.687																																																	0								ENSG00000081853						34	41	39					5																	140720410		2193	4276	6469	PCDHGA2	SO:0001819	synonymous_variant	0			-	HGNC	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.1872C>T	5.37:g.140720410C>T		Somatic	0	201	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	280	13.00	Q52LL6|Q9Y5D5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G624	ENST00000394576.2	37	c.1872	CCDS47289.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	C	NM_018915	-		140720410	1	no_errors	ENST00000394576	ensembl	human	known	74_37	silent	SNP	0.045	T	T	140720410	C	T	140720410	2	4	62	1	0	0	0	0	0	0	0	1	11556	755	27	1		1	PCDHGA2	5	140720410	Silent	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	87939387	140720410	40194850	15	3422											
IMPG1	3617	genome.wustl.edu	37	chr6	76734971	76734971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctctgcagatatttcatCttttctattagtacaataga	4	8	4	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr6:76734971C>T	ENST00000369950.3	-	5	691	c.502G>A	c.(502-504)Gat>Aat	p.D168N	IMPG1_ENST00000369963.3_Missense_Mutation_p.D90N	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATATTTCATCTTTTCTATTA	0.338																																					Pancreas(37;839 1141 2599 26037)												0								ENSG00000112706						73	77	76					6																	76734971		2203	4299	6502	IMPG1	SO:0001583	missense	0			-	HGNC	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.502G>A	6.37:g.76734971C>T	ENSP00000358966:p.Asp168Asn	Somatic	0	31	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05		Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.D168N	ENST00000369950.3	37	c.502	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215967	0.39201	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.78364	1.99;-1.17	5.15	5.15	0.70609	.	1.346180	0.05137	N	0.493531	T	0.71333	0.3327	M	0.70275	2.135	0.44880	D	0.997893	B	0.21753	0.06	B	0.19946	0.027	T	0.53711	-0.8400	9	.	.	.	.	16.7908	0.85589	0.0:1.0:0.0:0.0	.	168	Q17R60	IMPG1_HUMAN	N	168;90	ENSP00000358966:D168N;ENSP00000358980:D90N	.	D	-	1	0	IMPG1	76791691	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	2.906000	0.48735	2.555000	0.86185	0.650000	0.86243	GAT	-	NULL		0.338	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	protein_coding	OTTHUMT00000041288.1	C	NM_001563	-		76734971	-1	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76734971	C	T	76734971	3	4	62	1	0	0	0	0	1	0	0	0	7730	913	32	2	1943	2	IMPG1	6	76734971	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		76734971	94380096	16	3423											
GPR126	57211	genome.wustl.edu	37	chr6	142711416	142711416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggaattatctatagaatatCcgtagtgattcagaacatcc	7	7	2	3			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr6:142711416C>A	ENST00000230173.6	+	7	1720	c.1244C>A	c.(1243-1245)tCc>tAc	p.S415Y	GPR126_ENST00000367609.3_Missense_Mutation_p.S415Y|GPR126_ENST00000367608.2_Missense_Mutation_p.S387Y|GPR126_ENST00000296932.8_Missense_Mutation_p.S387Y	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	415					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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TATAGAATATCCGTAGTGATT	0.313																																																	0								ENSG00000112414						96	94	95					6																	142711416		1838	4085	5923	GPR126	SO:0001583	missense	0			-	HGNC	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1244C>A	6.37:g.142711416C>A	ENSP00000230173:p.Ser415Tyr	Somatic	0	41	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	61	23.75	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S415Y	ENST00000230173.6	37	c.1244	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736411	0.69189	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.46	4.6	0.57074	.	0.211649	0.33753	N	0.004600	T	0.46619	0.1402	L	0.53249	1.67	0.33992	D	0.649249	P;P;P;P	0.51537	0.946;0.946;0.946;0.911	P;P;P;P	0.52627	0.704;0.704;0.704;0.51	T	0.56517	-0.7966	10	0.87932	D	0	.	11.914	0.52755	0.0:0.9195:0.0:0.0805	.	387;415;387;415	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	Y	415;387;387;415	ENSP00000230173:S415Y;ENSP00000356580:S387Y;ENSP00000296932:S387Y;ENSP00000356581:S415Y	ENSP00000230173:S415Y	S	+	2	0	GPR126	142753109	0.978000	0.34361	0.846000	0.33378	0.885000	0.51271	2.382000	0.44345	1.310000	0.45006	0.655000	0.94253	TCC	-	NULL		0.313	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	protein_coding	OTTHUMT00000042487.2	C		-		142711416	1	no_errors	ENST00000367609	ensembl	human	known	74_37	missense	SNP	0.965	A	A	142711416	C	A	142711416	3	1	62	1	0	0	0	0	1	0	0	0	6642	855	30	3	1270	3	GPR126	6	142711416	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	65976445	142711416	28403651	17	3424											
SDK1	221935	genome.wustl.edu	37	chr7	4169604	4169604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtgcgagggaaccacaCgcagtcggccctgctggcag	14	14	0	0	rs140791078		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr7:4169604C>T	ENST00000404826.2	+	27	4143	c.4004C>T	c.(4003-4005)aCg>aTg	p.T1335M	SDK1_ENST00000389531.3_Missense_Mutation_p.T1335M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1335	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T1335M(1)		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)		GGGAACCACACGCAGTCGGCC	0.652																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000146555	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	59	55	57		4004	5.7	1	7	dbSNP_134	57	0,8598		0,0,4299	no	missense	SDK1	NM_152744.3	81	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1335/2214	4169604	1,13003	2203	4299	6502	SDK1	SO:0001583	missense	0			-	HGNC	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.4004C>T	7.37:g.4169604C>T	ENSP00000385899:p.Thr1335Met	Somatic	0	61	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	58	26.58	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1335M	ENST00000404826.2	37	c.4004	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629391	0.67015	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.59502	0.26;0.26	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.069462	0.56097	D	0.000032	T	0.75852	0.3906	M	0.72479	2.2	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.66351	0.91;0.943	T	0.77354	-0.2619	10	0.87932	D	0	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	1335;1335	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1335	ENSP00000385899:T1335M;ENSP00000374182:T1335M	ENSP00000374182:T1335M	T	+	2	0	SDK1	4136130	0.987000	0.35691	0.975000	0.42487	0.639000	0.38242	3.462000	0.53042	2.722000	0.93159	0.655000	0.94253	ACG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	C	NM_152744	rs140791078		4169604	1	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4169604	C	T	4169604	3	4	62	1	0	0	0	0	1	0	0	0	13976	536	19	1	4110	1	SDK1	7	4169604	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		4169604	154969059	18	3425											
POU6F2	11281	genome.wustl.edu	37	chr7	39247149	39247149	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaacagcgaatctcacCaacatccaagggctggtggc	10	14	1	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr7:39247149C>A	ENST00000403058.1	+	5	595	c.441C>A	c.(439-441)acC>acA	p.T147T	POU6F2_ENST00000518318.2_Silent_p.T147T|POU6F2_ENST00000559001.1_Silent_p.T139T|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	147					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)			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						CGAATCTCACCAACATCCAAG	0.552																																																	0								ENSG00000106536						50	48	48					7																	39247149		2203	4300	6503	POU6F2	SO:0001819	synonymous_variant	0			-	HGNC	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.441C>A	7.37:g.39247149C>A		Somatic	0	38	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.T147	ENST00000403058.1	37	c.441	CCDS34620.2	7																																																																																			-	NULL		0.552	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	protein_coding	OTTHUMT00000320146.3	C	NM_007252	-		39247149	1	no_errors	ENST00000403058	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39247149	C	A	39247149	2	1	62	1	0	0	0	0	0	0	0	1	12287	581	21	3		3	POU6F2	7	39247149	Silent	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	35077545	39247149	119891514	19	3426											
SAMD9	54809	genome.wustl.edu	37	chr7	92731334	92731334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatacatttcatagtgctTatagcatcctcttgactttt	4	9	2	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr7:92731334T>C	ENST00000379958.2	-	3	4346	c.4077A>G	c.(4075-4077)atA>atG	p.I1359M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1359						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATAGTGCTTATAGCATCCT	0.358																																																	0								ENSG00000205413						100	105	104					7																	92731334		2203	4299	6502	SAMD9	SO:0001583	missense	0			-	HGNC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4077A>G	7.37:g.92731334T>C	ENSP00000369292:p.Ile1359Met	Somatic	0	45	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	101	9.01	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.I1359M	ENST00000379958.2	37	c.4077	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	0.539	-0.854378	0.02630	.	.	ENSG00000205413	ENST00000379958	T	0.23147	1.92	4.41	3.26	0.37387	.	0.983509	0.08275	N	0.970822	T	0.17023	0.0409	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.25676	-1.0125	10	0.46703	T	0.11	-2.2807	4.4996	0.11858	0.0:0.1037:0.1989:0.6973	.	1359	Q5K651	SAMD9_HUMAN	M	1359	ENSP00000369292:I1359M	ENSP00000369292:I1359M	I	-	3	3	SAMD9	92569270	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-0.281000	0.08456	0.830000	0.34757	0.491000	0.48974	ATA	-	NULL		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	protein_coding	OTTHUMT00000341761.1	T	NM_017654	-		92731334	-1	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	SNP	0.000	C	C	92731334	T	C	92731334	3	2	62	1	0	0	0	0	1	0	0	0	13834	1744	61	5	696	5	SAMD9	7	92731334	Missense_Mutation	SNP	T	TCGA-DX-A48P-01A-11D-A307-09	53484185	92731334	66407329	20	3427											
BAG4	9530	genome.wustl.edu	37	chr8	38067571	38067571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatcaaagcatgaaccggCacaactttccttgcagtgtc	8	12	1	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr8:38067571C>A	ENST00000287322.4	+	5	1205	c.934C>A	c.(934-936)Cac>Aac	p.H312N	BAG4_ENST00000432471.2_Missense_Mutation_p.H276N	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	312					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CATGAACCGGCACAACTTTCC	0.448																																																	0								ENSG00000156735						158	140	146					8																	38067571		2203	4300	6503	BAG4	SO:0001583	missense	0			-	HGNC	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.934C>A	8.37:g.38067571C>A	ENSP00000287322:p.His312Asn	Somatic	0	39	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	47	38.96	B4E217|O95818	Missense_Mutation	SNP							pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.H312N	ENST00000287322.4	37	c.934	CCDS6104.1	8	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696737	0.30142	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	T;D	0.81579	-1.44;-1.51	5.11	4.18	0.49190	.	0.329246	0.34025	N	0.004331	T	0.66499	0.2795	N	0.19112	0.55	0.30398	N	0.780318	B;B	0.17852	0.005;0.024	B;B	0.15052	0.005;0.012	T	0.59883	-0.7370	10	0.23302	T	0.38	-23.7594	12.9751	0.58532	0.1603:0.8397:0.0:0.0	.	276;312	B4E217;O95429	.;BAG4_HUMAN	N	276;312	ENSP00000393298:H276N;ENSP00000287322:H312N	ENSP00000287322:H312N	H	+	1	0	BAG4	38186728	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.753000	0.38359	2.515000	0.84797	0.650000	0.86243	CAC	-	NULL		0.448	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG4	protein_coding	OTTHUMT00000377038.2	C	NM_004874	-		38067571	1	no_errors	ENST00000287322	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38067571	C	A	38067571	3	1	62	1	0	0	0	0	1	0	0	0	1289	710	25	3	952	3	BAG4	8	38067571	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		38067571	108296451	21	3428											
NSMAF	8439	genome.wustl.edu	37	chr8	59499075	59499075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaatctggtgcattaaGgtggccgttgtgaggtccca	14	8	1	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr8:59499075G>A	ENST00000038176.3	-	28	2600	c.2388C>T	c.(2386-2388)acC>acT	p.T796T	NSMAF_ENST00000427130.2_Silent_p.T827T	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	796					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GGTGCATTAAGGTGGCCGTTG	0.403																																																	0								ENSG00000035681						199	172	181					8																	59499075		2203	4300	6503	NSMAF	SO:0001819	synonymous_variant	0			-	HGNC	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2388C>T	8.37:g.59499075G>A		Somatic	0	125	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	85	140	37.78	B4DFB0|E9PCH0|Q8IW26	Silent	SNP							pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T827	ENST00000038176.3	37	c.2481	CCDS6173.1	8																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	protein_coding	OTTHUMT00000378384.1	G	NM_003580	-		59499075	-1	no_errors	ENST00000427130	ensembl	human	known	74_37	silent	SNP	0.000	A	A	59499075	G	A	59499075	2	1	62	1	0	0	0	0	0	0	0	1	10676	987	35	2		2	NSMAF	8	59499075	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	21431504	59499075	86864947	22	3429											
DNAJC5B	85479	genome.wustl.edu	37	chr8	67012211	67012211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcctacaaatgcaaAtgagaaaacacagctaatca	5	11	2	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr8:67012211A>G	ENST00000276570.5	+	6	832	c.545A>G	c.(544-546)aAt>aGt	p.N182S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	182						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAAATGCAAATGAGAAAACA	0.388																																																	0								ENSG00000147570						132	120	124					8																	67012211		2203	4300	6503	DNAJC5B	SO:0001583	missense	0			-	HGNC	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.545A>G	8.37:g.67012211A>G	ENSP00000276570:p.Asn182Ser	Somatic	0	121	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	115	146	44.06	Q969Y8	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.N182S	ENST00000276570.5	37	c.545	CCDS6183.1	8	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468544	0.43839	.	.	ENSG00000147570	ENST00000276570	T	0.69306	-0.39	5.87	5.87	0.94306	.	0.060586	0.64402	D	0.000005	T	0.52289	0.1725	N	0.25060	0.705	0.37867	D	0.929932	B	0.16166	0.016	B	0.17433	0.018	T	0.52808	-0.8526	10	0.29301	T	0.29	.	12.6519	0.56766	1.0:0.0:0.0:0.0	.	182	Q9UF47	DNJ5B_HUMAN	S	182	ENSP00000276570:N182S	ENSP00000276570:N182S	N	+	2	0	DNAJC5B	67174765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.286000	0.51724	2.240000	0.73641	0.477000	0.44152	AAT	-	NULL		0.388	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	protein_coding	OTTHUMT00000378915.1	A	NM_033105	-		67012211	1	no_errors	ENST00000276570	ensembl	human	known	74_37	missense	SNP	1.000	G	G	67012211	A	G	67012211	3	3	62	1	0	0	0	0	1	0	0	0	4653	101	4	5	559	5	DNAJC5B	8	67012211	Missense_Mutation	SNP	A	TCGA-DX-A48P-01A-11D-A307-09	7513136	67012211	79351811	23	3430											
ODF1	4956	genome.wustl.edu	37	chr8	103573033	103573042	+	Frame_Shift_Del	DEL	ACCCGTGCAG	ACCCGTGCAG	-													caacccctgcagcccctgcaAcccgtgcagcccatatgatc					rs143802899|rs199994329|rs568456031|rs372688769|rs59109601|rs377699584|rs62523272|rs62523273|rs386728348|rs58232162|rs11992195	byFrequency	TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	ACCCGTGCAG	ACCCGTGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr8:103573033_103573042delACCCGTGCAG	ENST00000285402.3	+	2	830_839	c.674_683delACCCGTGCAG	c.(673-684)aacccgtgcagcfs	p.NPCS225fs	ODF1_ENST00000518835.1_Frame_Shift_Del_p.NPCS18fs	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	225	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			agcccctgcaacccgtgcagcccATATGAT	0.543																																																	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000155087																																			ODF1	SO:0001589	frameshift_variant	0				HGNC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.674_683delACCCGTGCAG	8.37:g.103573033_103573042delACCCGTGCAG	ENSP00000285402:p.Asn225fs	Somatic					0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q3SX72	Frame_Shift_Del	DEL							pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.N225fs	ENST00000285402.3	37	c.674_683	CCDS6293.1	8																																																																																			-	NULL		0.543	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	protein_coding	OTTHUMT00000379884.1	ACCCGTGCAG				103573042	1	no_errors	ENST00000285402	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.002:0.891:0.887:0.486:0.552:0.533:0.179:0.136:0.033	-	-	103573042	ACCCGTGCAG	-	103573033	7	5	62	1	0	1	0	1	0	0	0	0	10828	43	2	0	680	0	ODF1	8	103573033	Frame_Shift_Del	DEL	ACCCGTGCAG	TCGA-DX-A48P-01A-11D-A307-09	36560822	103573033	42790989	24	3431											
KIAA0196	9897	genome.wustl.edu	37	chr8	126056836	126056837	+	Frame_Shift_Ins	INS	-	-	T													taagccatttagaccaaaggINSttcccaaggtggtctggatt							TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr8:126056836_126056837insT	ENST00000318410.7	-	21	2957_2958	c.2608_2609insA	c.(2608-2610)accfs	p.T870fs	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Frame_Shift_Ins_p.T722fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	870					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAGACCAAAGGTTCCCAAGGTG	0.46																																																	0								ENSG00000164961																																			KIAA0196	SO:0001589	frameshift_variant	0				HGNC		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2609dupA	8.37:g.126056838_126056838dupT	ENSP00000318016:p.Thr870fs	Somatic	0	82	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	123	17.45	A8K4R7|Q3KQX5|Q8TBQ2	Frame_Shift_Ins	INS							pfam_WASH_strumpellin,superfamily_Ig_E-set	p.T870fs	ENST00000318410.7	37	c.2609_2608	CCDS6355.1	8																																																																																			-	pfam_WASH_strumpellin		0.46	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	protein_coding	OTTHUMT00000381369.1	-	NM_014846			126056837	-1	no_errors	ENST00000318410	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	126056837	-	T	126056836	7	5	62	1	0	1	1	0	0	0	0	0	8163	1261	44	0	906	0	KIAA0196	8	126056836	Frame_Shift_Ins	INS	-	TCGA-DX-A48P-01A-11D-A307-09	22483803	126056836	20307186	25	3432											
ZNF251	90987	genome.wustl.edu	37	chr8	145947028	145947029	+	Stop_Codon_Del	DEL	AT	AT	-													ctgtcttctgcatttatcacAttaaaaatgtctttcttgga							TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr8:145947028_145947029delAT	ENST00000292562.7	-	0	2291_2292				ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251						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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	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)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CATTTATCACATTAAAAATGTC	0.332																																																	0								ENSG00000198169																																			ZNF251	SO:0001567	stop_retained_variant	0				HGNC	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	Exception_encountered	8.37:g.145947028_145947029delAT	Exception_encountered	Somatic	0	26	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	Q2M219	Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.*672fs	ENST00000292562.7	37	c.2017_2016	CCDS47944.1	8																																																																																			-	NULL		0.332	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	protein_coding	OTTHUMT00000382541.1	AT	NM_138367			145947029	-1	no_errors	ENST00000292562	ensembl	human	known	74_37	frame_shift_del	DEL	0.001:0.013	-	-	145947029	AT	-	145947028	7	5	62	1	0	1	0	1	0	0	0	0	17803	232	8	0	2	0	ZNF251	8	145947028	Stop_Codon_Del	DEL	AT	TCGA-DX-A48P-01A-11D-A307-09	19890192	145947028	416994	26	3433											
C9orf171	389799	genome.wustl.edu	37	chr9	135374153	135374153	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaattatggactctacatCcgagggcttgacggaggagt	12	7	1	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr9:135374153C>T	ENST00000343036.2	+	3	423	c.375C>T	c.(373-375)atC>atT	p.I125I	C9orf171_ENST00000393216.2_Silent_p.I89I|C9orf171_ENST00000393215.3_Silent_p.I89I	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	125										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTCTACATCCGAGGGCTTG	0.577																																																	0								ENSG00000188523						28	27	27					9																	135374153		2203	4300	6503	C9orf171	SO:0001819	synonymous_variant	0			-	HGNC	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.375C>T	9.37:g.135374153C>T		Somatic	0	56	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	94	9.62	Q147X1	Silent	SNP							NULL	p.I125	ENST00000343036.2	37	c.375	CCDS6949.1	9																																																																																			-	NULL		0.577	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	protein_coding	OTTHUMT00000254589.1	C	NM_207417	-		135374153	1	no_errors	ENST00000343036	ensembl	human	known	74_37	silent	SNP	0.624	T	T	135374153	C	T	135374153	2	4	62	1	0	0	0	0	0	0	0	1	2472	845	30	2		2	C9orf171	9	135374153	Silent	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		135374153	5839278	27	3434											
SURF6	6838	genome.wustl.edu	37	chr9	136198995	136199015	+	In_Frame_Del	DEL	CCTCCAGCTCCTGCGCCTTCC	CCTCCAGCTCCTGCGCCTTCC	-													gttggtccacttcatcttcgCctccagctcctgcgccttcc							TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	CCTCCAGCTCCTGCGCCTTCC	CCTCCAGCTCCTGCGCCTTCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr9:136198995_136199015delCCTCCAGCTCCTGCGCCTTCC	ENST00000372022.4	-	5	1041_1061	c.776_796delGGAAGGCGCAGGAGCTGGAGG	c.(775-798)gggaaggcgcaggagctggaggcg>gcg	p.GKAQELE259del	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	259					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TTCATCTTCGCCTCCAGCTCCTGCGCCTTCCCCTCATCCTG	0.67																																																	0								ENSG00000148296																																			SURF6	SO:0001651	inframe_deletion	0				HGNC	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.776_796delGGAAGGCGCAGGAGCTGGAGG	9.37:g.136198995_136199015delCCTCCAGCTCCTGCGCCTTCC	ENSP00000361092:p.Gly259_Glu265del	Somatic					0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	In_Frame_Del	DEL							pfam_Surf6	p.GKAQELE259in_frame_del	ENST00000372022.4	37	c.796_776	CCDS6962.1	9																																																																																			-	pfam_Surf6		0.67	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	protein_coding	OTTHUMT00000054905.1	CCTCCAGCTCCTGCGCCTTCC	NM_006753			136199015	-1	no_errors	ENST00000372022	ensembl	human	known	74_37	in_frame_del	DEL	0.341:0.858:0.996:0.998:0.989:0.996:0.996:0.998:0.999:0.997:0.926:0.236:0.248:0.246:0.979:0.994:0.929:0.700:0.233:0.002:0.003	-	-	136199015	CCTCCAGCTCCTGCGCCTTCC	-	136198995	7	5	62	1	0	1	0	1	0	0	0	0	15413	739	26	0	293	0	SURF6	9	136198995	In_Frame_Del	DEL	CCTCCAGCTCCTGCGCCTTCC	TCGA-DX-A48P-01A-11D-A307-09	824842	136198995	5014436	28	3435											
SORCS1	114815	genome.wustl.edu	37	chr10	108458981	108458981	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgacatacctcatagagGtcgatcatgatgttgccctc	9	11	2	3			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr10:108458981G>C	ENST00000263054.6	-	9	1411	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E	SORCS1_ENST00000369698.1_Missense_Mutation_p.D3E|SORCS1_ENST00000344440.6_Missense_Mutation_p.D468E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	468					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTCATAGAGGTCGATCATGA	0.532																																																	0								ENSG00000108018						211	163	179					10																	108458981		2203	4300	6503	SORCS1	SO:0001583	missense	0			-	HGNC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1404C>G	10.37:g.108458981G>C	ENSP00000263054:p.Asp468Glu	Somatic	0	41	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D468E	ENST00000263054.6	37	c.1404	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907001	0.52333	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.35605	1.3;1.3;1.3	6.16	6.16	0.99307	VPS10 (1);	0.105384	0.64402	D	0.000006	T	0.54806	0.1881	M	0.87617	2.895	0.44985	D	0.998003	B;P;P;B;P	0.35894	0.189;0.526;0.526;0.189;0.526	B;B;B;B;B	0.41723	0.085;0.365;0.365;0.085;0.365	T	0.54268	-0.8319	9	.	.	.	-31.7395	20.8598	0.99761	0.0:0.0:1.0:0.0	.	468;468;468;468;468	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	3;468;468	ENSP00000358712:D3E;ENSP00000263054:D468E;ENSP00000345964:D468E	.	D	-	3	2	SORCS1	108448971	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.683000	0.54663	2.937000	0.99478	0.650000	0.86243	GAC	-	smart_VPS10		0.532	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	G	NM_052918	-		108458981	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	SNP	1.000	C	C	108458981	G	C	108458981	3	2	62	1	0	0	0	0	1	0	0	0	14938	1252	44	4	2408	4	SORCS1	10	108458981	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		108458981	27075766	29	3436											
SORCS1	114815	genome.wustl.edu	37	chr10	108924057	108924057	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggccactgagaacagGggacgcactacgaggggcag	18	11	0	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr10:108924057G>T	ENST00000263054.6	-	1	235	c.228C>A	c.(226-228)ccC>ccA	p.P76P	SORCS1_ENST00000344440.6_Silent_p.P76P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	76					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGAGAACAGGGGACGCACTA	0.731																																																	0								ENSG00000108018						6	7	7					10																	108924057		2158	4226	6384	SORCS1	SO:0001819	synonymous_variant	0			-	HGNC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.228C>A	10.37:g.108924057G>T		Somatic	0	14	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.P76	ENST00000263054.6	37	c.228	CCDS7559.1	10																																																																																			-	NULL		0.731	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	G	NM_052918	-		108924057	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	silent	SNP	0.799	T	T	108924057	G	T	108924057	2	4	62	1	0	0	0	0	0	0	0	1	14938	1219	43	3		3	SORCS1	10	108924057	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	465076	108924057	26610690	30	3437											
TSPAN32	10077	genome.wustl.edu	37	chr11	2334970	2334970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccggcggcaggagctggcGgccatccaggacgtggtgag	19	11	0	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr11:2334970G>A	ENST00000182290.4	+	5	578	c.441G>A	c.(439-441)gcG>gcA	p.A147A	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Silent_p.A136A|TSPAN32_ENST00000381121.3_Silent_p.A147A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	147					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGAGCTGGCGGCCATCCAGG	0.647																																																	0								ENSG00000064201						47	29	35					11																	2334970		2199	4295	6494	TSPAN32	SO:0001819	synonymous_variant	0			-	HGNC	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.441G>A	11.37:g.2334970G>A		Somatic	0	135	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	111	11.90	Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	p.A147	ENST00000182290.4	37	c.441	CCDS7733.1	11																																																																																			-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.647	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPAN32	protein_coding	OTTHUMT00000026912.2	G	NM_139024	-		2334970	1	no_errors	ENST00000182290	ensembl	human	known	74_37	silent	SNP	0.036	A	A	2334970	G	A	2334970	2	1	62	1	0	0	0	0	0	0	0	1	16654	1103	39	1		1	TSPAN32	11	2334970	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		2334970	132671546	31	3438											
INCENP	3619	genome.wustl.edu	37	chr11	61914294	61914294	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcgagcaggagcggcgGgagcaggagcggcgcgagca	22	11	0	0	rs374721937	byFrequency	TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756													G|||	10	0.00199681	0.0061	0.0029	5008	,	,		11587	0		0	False		,,,				2504	0																0								ENSG00000149503						3	5	5					11																	61914294		1897	3823	5720	INCENP	SO:0001819	synonymous_variant	0			-	HGNC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2124G>C	11.37:g.61914294G>C		Somatic	0	30	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.27	A8MQD2|Q5Y192	Silent	SNP							pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R708	ENST00000394818.3	37	c.2124	CCDS44624.1	11																																																																																			-	NULL		0.756	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	protein_coding	OTTHUMT00000394723.2	G	NM_020238	-		61914294	1	no_errors	ENST00000394818	ensembl	human	known	74_37	silent	SNP	0.000	C	C	61914294	G	C	61914294	2	2	62	1	0	0	0	0	0	0	0	1	7735	1219	43	4		4	INCENP	11	61914294	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	59579324	61914294	73092222	32	3439											
AHNAK	79026	genome.wustl.edu	37	chr11	62298096	62298096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctctcctttgaagccagGcatgctaaacttgggcattt	9	12	1	1	rs150191644		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr11:62298096G>A	ENST00000378024.4	-	5	4067	c.3793C>T	c.(3793-3795)Cct>Tct	p.P1265S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1265					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGAAGCCAGGCATGCTAAAC	0.522																																																	0								ENSG00000124942						235	244	241					11																	62298096		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3793C>T	11.37:g.62298096G>A	ENSP00000367263:p.Pro1265Ser	Somatic	0	203	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	300	13.51	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P1265S	ENST00000378024.4	37	c.3793	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	g	15.41	2.825408	0.50739	.	.	ENSG00000124942	ENST00000378024	T	0.02944	4.1	4.66	4.66	0.58398	.	0.000000	0.30193	U	0.010193	T	0.08492	0.0211	L	0.58810	1.83	0.30081	N	0.809181	P	0.43392	0.805	P	0.56042	0.79	T	0.01652	-1.1303	10	0.31617	T	0.26	.	10.4145	0.44314	0.0924:0.0:0.9076:0.0	.	1265	Q09666	AHNK_HUMAN	S	1265	ENSP00000367263:P1265S	ENSP00000367263:P1265S	P	-	1	0	AHNAK	62054672	0.002000	0.14202	0.998000	0.56505	0.951000	0.60555	0.200000	0.17257	2.310000	0.77875	0.650000	0.86243	CCT	-	NULL		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	G	NM_024060	-		62298096	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62298096	G	A	62298096	3	1	62	1	0	0	0	0	1	0	0	0	414	1203	42	2	13999	2	AHNAK	11	62298096	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	383802	62298096	72708420	33	3440											
SLC22A8	9376	genome.wustl.edu	37	chr11	62762013	62762013	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtagccccagtctctcaCccaagggcacaaaggtgaga	13	12	2	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr11:62762013C>A	ENST00000336232.2	-	8	1352		c.e8+1		SLC22A8_ENST00000430500.2_Splice_Site|SLC22A8_ENST00000535878.1_Splice_Site|SLC22A8_ENST00000311438.8_Splice_Site|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000545207.1_Splice_Site	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8						glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CAGTCTCTCACCCAAGGGCAC	0.607																																																	0								ENSG00000149452						34	33	34					11																	62762013		2200	4298	6498	SLC22A8	SO:0001630	splice_region_variant	0			-	HGNC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1216+1G>T	11.37:g.62762013C>A		Somatic	0	25	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Splice_Site	SNP							-	e7+1	ENST00000336232.2	37	c.1216+1	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392009	0.83011	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8017	0.85616	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A8	62518589	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.017000	0.64047	2.550000	0.86006	0.655000	0.94253	.	-	-		0.607	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	C	NM_004254	-	Intron	62762013	-1	no_errors	ENST00000336232	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	62762013	C	A	62762013	5	1	62	1	0	0	0	0	0	0	1	0	14468	521	18	3	427	3	SLC22A8	11	62762013	Splice_Site	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	463917	62762013	72244503	34	3441											
FAT3	120114	genome.wustl.edu	37	chr11	92531873	92531873	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacttctacctacctatgtTggagtggaggttctgaaagt	10	7	2	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr11:92531873T>G	ENST00000298047.6	+	9	5711	c.5694T>G	c.(5692-5694)gtT>gtG	p.V1898V	FAT3_ENST00000409404.2_Silent_p.V1898V|FAT3_ENST00000525166.1_Silent_p.V1748V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1898	Cadherin 17. {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)				CTACCTATGTTGGAGTGGAGG	0.438										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						102	91	94					11																	92531873		1941	4168	6109	FAT3	SO:0001819	synonymous_variant	0			-	HGNC	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.5694T>G	11.37:g.92531873T>G		Somatic	0	40	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	B5MDB0|Q96AU6	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V1898	ENST00000298047.6	37	c.5694		11																																																																																			-	superfamily_Cadherin-like		0.438	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		T	NM_001008781	-		92531873	1	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	SNP	0.248	G	G	92531873	T	G	92531873	2	3	62	1	0	0	0	0	0	0	0	1	5693	1799	63	5		5	FAT3	11	92531873	Silent	SNP	T	TCGA-DX-A48P-01A-11D-A307-09	29769860	92531873	42474643	35	3442											
GPC6	10082	genome.wustl.edu	37	chr13	94482415	94482415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttatctgcagaatttttcCgagagctcctggagaatgca	9	8	1	3			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr13:94482415C>T	ENST00000377047.4	+	3	943	c.328C>T	c.(328-330)Cga>Tga	p.R110*	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	110					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGAATTTTTCCGAGAGCTCCT	0.388																																																	0								ENSG00000183098						33	34	34					13																	94482415		2203	4298	6501	GPC6	SO:0001587	stop_gained	0			-	HGNC	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.328C>T	13.37:g.94482415C>T	ENSP00000366246:p.Arg110*	Somatic	0	90	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	163	14.21	A8K279|Q96SG5|Q96SG8|Q9H1P4	Nonsense_Mutation	SNP							pfam_Glypican	p.R110*	ENST00000377047.4	37	c.328	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	43	9.954422	0.99304	.	.	ENSG00000183098	ENST00000377047	.	.	.	5.53	4.67	0.58626	.	0.560121	0.16865	N	0.196374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	13.6268	0.62170	0.2823:0.7177:0.0:0.0	.	.	.	.	X	110	.	ENSP00000366246:R110X	R	+	1	2	GPC6	93280416	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.944000	0.49034	1.447000	0.47661	0.650000	0.86243	CGA	-	pfam_Glypican		0.388	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	protein_coding	OTTHUMT00000045460.4	C	NM_005708	-		94482415	1	no_errors	ENST00000377047	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	94482415	C	T	94482415	4	4	62	1	0	0	0	0	0	1	0	0	6604	644	23	1	338	1	GPC6	13	94482415	Nonsense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		94482415	20687463	36	3443											
CARS2	79587	genome.wustl.edu	37	chr13	111357899	111357899	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcgcatgatcatataCagttggtccacagctatacc	9	10	1	1	rs117788141		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr13:111357899C>G	ENST00000257347.4	-	2	307	c.244G>C	c.(244-246)Gta>Cta	p.V82L	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	82					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGATCATATACAGTTGGTCCA	0.363																																																	0								ENSG00000134905						91	85	87					13																	111357899		2203	4300	6503	CARS2	SO:0001583	missense	0			-	HGNC	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.244G>C	13.37:g.111357899C>G	ENSP00000257347:p.Val82Leu	Somatic	0	29	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	Q8NI84|Q96IV4	Missense_Mutation	SNP							pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.V82L	ENST00000257347.4	37	c.244	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.162217	0.94727	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.44881	0.91	4.94	4.94	0.65067	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82928	-0.0214	10	0.72032	D	0.01	-33.3166	16.95	0.86242	0.0:1.0:0.0:0.0	.	82	Q9HA77	SYCM_HUMAN	L	82;73	ENSP00000257347:V82L	ENSP00000257347:V82L	V	-	1	0	CARS2	110155900	0.999000	0.42202	0.855000	0.33649	0.896000	0.52359	4.781000	0.62389	2.281000	0.76405	0.455000	0.32223	GTA	-	pfam_Cys-tRNA/MSH_ligase,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase		0.363	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	protein_coding	OTTHUMT00000045772.3	C	NM_024537	-		111357899	-1	no_errors	ENST00000257347	ensembl	human	known	74_37	missense	SNP	0.998	G	G	111357899	C	G	111357899	3	3	62	1	0	0	0	0	1	0	0	0	2660	478	17	4	1506	4	CARS2	13	111357899	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	16875484	111357899	3811979	37	3444											
SMOC1	64093	genome.wustl.edu	37	chr14	70490038	70490038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgaagcccttcaagCgctacgtgaagaagaaagcc	13	9	1	5			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr14:70490038C>T	ENST00000381280.4	+	11	1418	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R389C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	389	EF-hand 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCCCTTCAAGCGCTACGTGAA	0.527																																																	0								ENSG00000198732						140	127	131					14																	70490038		2203	4300	6503	SMOC1	SO:0001583	missense	0			-	HGNC	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1165C>T	14.37:g.70490038C>T	ENSP00000370680:p.Arg389Cys	Somatic	0	28	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	30	41.18	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP							pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.R389C	ENST00000381280.4	37	c.1165	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846983	0.71603	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.60040	0.22;0.22	5.34	3.38	0.38709	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.76798	-0.2826	10	0.87932	D	0	-21.5896	13.8063	0.63233	0.3856:0.6144:0.0:0.0	.	389;389	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	389	ENSP00000355110:R389C;ENSP00000370680:R389C	ENSP00000355110:R389C	R	+	1	0	SMOC1	69559791	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.385000	0.44371	1.352000	0.45808	0.655000	0.94253	CGC	-	pfam_SPARC/Testican_Ca-bd-dom		0.527	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	protein_coding	OTTHUMT00000412467.1	C		-		70490038	1	no_errors	ENST00000361956	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70490038	C	T	70490038	3	4	62	1	0	0	0	0	1	0	0	0	14809	768	27	1	1207	1	SMOC1	14	70490038	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		70490038	36859502	38	3445											
CA12	771	genome.wustl.edu	37	chr15	63618489	63618489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagctccggggacctcaagCgtgggcctcagtctccatct	13	14	4	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr15:63618489C>G	ENST00000178638.3	-	11	1500	c.1060G>C	c.(1060-1062)Gct>Cct	p.A354P	CA12_ENST00000422263.2_Missense_Mutation_p.A283P|CA12_ENST00000344366.3_Missense_Mutation_p.A343P|CA12_ENST00000560666.1_5'UTR	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	354					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGACCTCAAGCGTGGGCCTCA	0.507																																																	0								ENSG00000074410						110	107	108					15																	63618489		2203	4300	6503	CA12	SO:0001583	missense	0			-	HGNC	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.1060G>C	15.37:g.63618489C>G	ENSP00000178638:p.Ala354Pro	Somatic	0	74	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	87	81	51.79	B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.A354P	ENST00000178638.3	37	c.1060	CCDS10185.1	15	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490594	0.64074	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.78126	-0.39;-0.45;-1.15	5.75	3.71	0.42584	.	0.851251	0.10403	N	0.678867	T	0.71779	0.3380	L	0.48362	1.52	0.24790	N	0.992767	B;B;B	0.20671	0.015;0.047;0.028	B;B;B	0.18871	0.01;0.023;0.015	T	0.64428	-0.6410	10	0.87932	D	0	.	9.8548	0.41079	0.1465:0.6923:0.1612:0.0	.	283;343;354	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	P	354;343;283	ENSP00000178638:A354P;ENSP00000343088:A343P;ENSP00000403028:A283P	ENSP00000178638:A354P	A	-	1	0	CA12	61405542	0.372000	0.25064	0.908000	0.35775	0.692000	0.40212	0.487000	0.22356	1.394000	0.46624	0.655000	0.94253	GCT	-	NULL		0.507	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CA12	protein_coding	OTTHUMT00000256370.1	C	NM_001218	-		63618489	-1	no_errors	ENST00000178638	ensembl	human	known	74_37	missense	SNP	0.506	G	G	63618489	C	G	63618489	3	3	62	1	0	0	0	0	1	0	0	0	2515	768	27	4	8	4	CA12	15	63618489	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		63618489	38912903	39	3446											
PIGQ	9091	genome.wustl.edu	37	chr16	624230	624230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctcctggcccaggtGcggcaggccagccaggtggg	17	13	0	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr16:624230G>A	ENST00000026218.5	+	2	244	c.156G>A	c.(154-156)gtG>gtA	p.V52V	PIGQ_ENST00000470411.2_Silent_p.V52V|PIGQ_ENST00000409527.2_Silent_p.V52V|PIGQ_ENST00000321878.5_Silent_p.V52V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	52					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCCCAGGTGCGGCAGGCCA	0.711																																																	0								ENSG00000007541						44	36	39					16																	624230		2194	4298	6492	PIGQ	SO:0001819	synonymous_variant	0			-	HGNC	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.156G>A	16.37:g.624230G>A		Somatic	0	52	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	26	55.00	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP							pfam_GlcNAc_Gpi1	p.V52	ENST00000026218.5	37	c.156	CCDS10411.1	16																																																																																			-	NULL		0.711	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	protein_coding	OTTHUMT00000239270.2	G	NM_004204	-		624230	1	no_errors	ENST00000026218	ensembl	human	known	74_37	silent	SNP	0.998	A	A	624230	G	A	624230	2	1	62	1	0	0	0	0	0	0	0	1	11898	1306	46	2		2	PIGQ	16	624230	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		624230	89730523	40	3447											
SLC12A3	6559	genome.wustl.edu	37	chr16	56901059	56901059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgatgggctggtggagggCgaggcaggcaccagcagcga	19	9	0	1			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr16:56901059C>T	ENST00000563236.1	+	2	385	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SLC12A3_ENST00000262502.5_Silent_p.G119G|SLC12A3_ENST00000438926.2_Silent_p.G120G|SLC12A3_ENST00000566786.1_Silent_p.G119G			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	120					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)	TGGTGGAGGGCGAGGCAGGCA	0.652																																																	0								ENSG00000070915						41	44	43					16																	56901059		2198	4300	6498	SLC12A3	SO:0001819	synonymous_variant	0			-	HGNC		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.360C>T	16.37:g.56901059C>T		Somatic	0	55	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8MSJ2|C9JNN9	Silent	SNP							pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G120	ENST00000563236.1	37	c.360	CCDS58464.1	16																																																																																			-	tigrfam_Na/K/Cl_cotransptS		0.652	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	C		-		56901059	1	no_errors	ENST00000438926	ensembl	human	known	74_37	silent	SNP	0.157	T	T	56901059	C	T	56901059	2	4	62	1	0	0	0	0	0	0	0	1	14392	755	27	1		1	SLC12A3	16	56901059	Silent	SNP	C	TCGA-DX-A48P-01A-11D-A307-09	56276829	56901059	33453694	41	3448											
HSD17B1	3292	genome.wustl.edu	37	chr17	40705589	40705589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagacatgaagaggcGcggttcgggacgcgtgttgg	17	10	0	3			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr17:40705589G>A	ENST00000585807.1	+	3	4118	c.398G>A	c.(397-399)cGc>cAc	p.R133H	HSD17B1_ENST00000225929.5_Missense_Mutation_p.R133H|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	133					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)	ATGAAGAGGCGCGGTTCGGGA	0.637																																																	0								ENSG00000108786						68	65	66					17																	40705589		2203	4300	6503	HSD17B1	SO:0001583	missense	0			-	HGNC		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.398G>A	17.37:g.40705589G>A	ENSP00000466799:p.Arg133His	Somatic	0	118	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	187	11.37	B3KXS1|Q2M2L8	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.R133H	ENST00000585807.1	37	c.398	CCDS11428.1	17	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472432	0.26423	.	.	ENSG00000108786	ENST00000225929;ENST00000225928	D	0.93859	-3.3	4.41	3.42	0.39159	NAD(P)-binding domain (1);	0.157494	0.47852	D	0.000201	D	0.89955	0.6865	L	0.61387	1.9	0.29273	N	0.870515	P;B;P	0.46457	0.878;0.023;0.671	B;B;B	0.36845	0.234;0.008;0.216	D	0.86170	0.1599	10	0.59425	D	0.04	.	11.4182	0.49965	0.0:0.1833:0.8167:0.0	.	164;133;133	B3RFR9;B4DTD0;P14061	.;.;DHB1_HUMAN	H	133	ENSP00000225929:R133H	ENSP00000225928:R133H	R	+	2	0	HSD17B1	37959115	0.249000	0.23941	0.488000	0.27440	0.002000	0.02628	1.719000	0.38011	1.068000	0.40764	-0.181000	0.13052	CGC	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH		0.637	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	protein_coding	OTTHUMT00000450392.1	G	NM_000413	-		40705589	1	no_errors	ENST00000585807	ensembl	human	known	74_37	missense	SNP	0.329	A	A	40705589	G	A	40705589	3	1	62	1	0	0	0	0	1	0	0	0	7380	1087	38	1	408	1	HSD17B1	17	40705589	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		40705589	40489621	42	3449											
DLGAP1	9229	genome.wustl.edu	37	chr18	3814090	3814090	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagttctgtaagggatggctGagtagccttgagatagcttt	14	5	1	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr18:3814090G>C	ENST00000315677.3	-	5	1736	c.1141C>G	c.(1141-1143)Cag>Gag	p.Q381E	DLGAP1_ENST00000581527.1_Missense_Mutation_p.Q381E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.Q79E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.Q79E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.Q89E|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000534970.1_Missense_Mutation_p.Q93E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.Q381E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.Q87E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.Q87E|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000400147.2_Missense_Mutation_p.Q79E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.Q381E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.Q87E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	381					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGGATGGCTGAGTAGCCTTG	0.507																																																	0								ENSG00000170579						165	152	157					18																	3814090		2203	4300	6503	DLGAP1	SO:0001583	missense	0			-	HGNC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1141C>G	18.37:g.3814090G>C	ENSP00000316377:p.Gln381Glu	Somatic	0	32	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP							pfam_GKAP	p.Q381E	ENST00000315677.3	37	c.1141	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833092	0.71258	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.79693	2.465	0.80722	D	1	D;D;D;B;D;D;D;D;D	0.71674	0.982;0.982;0.997;0.122;0.997;0.992;0.99;0.993;0.998	D;D;D;B;D;P;D;P;D	0.72982	0.952;0.952;0.935;0.077;0.935;0.907;0.979;0.9;0.971	D	0.94774	0.7947	10	0.51188	T	0.08	-24.8443	20.422	0.99049	0.0:0.0:1.0:0.0	.	381;93;67;87;79;381;79;381;79	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;Q6IS01;O14490-3;O14490;O14490-2	.;.;.;.;.;.;.;DLGP1_HUMAN;.	E	381;79;87;89;87;93;79;79;381	ENSP00000316377:Q381E;ENSP00000383011:Q79E;ENSP00000383014:Q87E;ENSP00000383013:Q89E;ENSP00000383019:Q87E;ENSP00000437817:Q93E;ENSP00000446312:Q79E;ENSP00000383010:Q79E;ENSP00000445973:Q381E	ENSP00000316377:Q381E	Q	-	1	0	DLGAP1	3804090	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.751000	0.98889	2.832000	0.97577	0.655000	0.94253	CAG	-	NULL		0.507	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	protein_coding	OTTHUMT00000254394.4	G		-		3814090	-1	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3814090	G	C	3814090	3	2	62	1	0	0	0	0	1	0	0	0	4561	1299	45	4	1828	4	DLGAP1	18	3814090	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		3814090	74263158	43	3450											
ZNF236	7776	genome.wustl.edu	37	chr18	74583683	74583683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtacaaggtcttataaccGgaatatcgacagaagtggat	10	6	1	1	rs373923548		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr18:74583683G>A	ENST00000253159.8	+	5	761	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	ZNF236_ENST00000583095.1_Intron|ZNF236_ENST00000320610.9_Missense_Mutation_p.R190Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	188					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)			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)		TCTTATAACCGGAATATCGAC	0.413																																																	0								ENSG00000130856	G	GLN/ARG	0,3828		0,0,1914	147	130	136		563	4.4	0.5	18		136	1,8245		0,1,4122	no	missense	ZNF236	NM_007345.3	43	0,1,6036	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	188/1846	74583683	1,12073	1914	4123	6037	ZNF236	SO:0001583	missense	0			-	HGNC	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.563G>A	18.37:g.74583683G>A	ENSP00000253159:p.Arg188Gln	Somatic	0	51	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	37	43.08	B2RTX9|Q9UL37	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R188Q	ENST00000253159.8	37	c.563	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894390	0.52121	0.0	1.21E-4	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11712	2.75;2.9	5.31	4.44	0.53790	.	0.065255	0.64402	D	0.000017	T	0.14874	0.0359	N	0.24115	0.695	0.33255	D	0.559049	D;D	0.71674	0.987;0.998	P;P	0.55999	0.645;0.789	T	0.15378	-1.0439	10	0.34782	T	0.22	.	14.2908	0.66275	0.0722:0.0:0.9278:0.0	.	188;188	Q9NWI2;Q9UL36	.;ZN236_HUMAN	Q	188	ENSP00000253159:R188Q;ENSP00000444524:R188Q	ENSP00000253159:R188Q	R	+	2	0	ZNF236	72712671	1.000000	0.71417	0.497000	0.27552	0.006000	0.05464	6.929000	0.75852	1.374000	0.46228	-0.140000	0.14226	CGG	-	NULL		0.413	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	G		-		74583683	1	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74583683	G	A	74583683	3	1	62	1	0	0	0	0	1	0	0	0	17796	1116	39	1	581	1	ZNF236	18	74583683	Missense_Mutation	SNP	G	TCGA-DX-A48P-01A-11D-A307-09	70769593	74583683	3493565	44	3451											
NCLN	56926	genome.wustl.edu	37	chr19	3206314	3206314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actggctcaccaaccagccgCgggccgcgcagctggtggac	14	16	1	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr19:3206314C>G	ENST00000246117.4	+	12	1821	c.1390C>G	c.(1390-1392)Cgg>Ggg	p.R464G	NCLN_ENST00000590671.1_Missense_Mutation_p.R390G	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	464					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACCAGCCGCGGGCCGCGCA	0.657																																																	0								ENSG00000125912						28	21	23					19																	3206314		1977	3793	5770	NCLN	SO:0001583	missense	0			-	HGNC	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1390C>G	19.37:g.3206314C>G	ENSP00000246117:p.Arg464Gly	Somatic	0	14	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	37.50	D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP							pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin	p.R464G	ENST00000246117.4	37	c.1390	CCDS32869.1	19	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849979	0.51270	.	.	ENSG00000125912	ENST00000246117	T	0.52754	0.65	4.05	4.05	0.47172	.	0.125415	0.53938	D	0.000049	T	0.56381	0.1981	M	0.74647	2.275	0.80722	D	1	P;P	0.51537	0.946;0.91	P;P	0.50896	0.653;0.451	T	0.63400	-0.6646	10	0.87932	D	0	-11.8179	11.029	0.47761	0.1866:0.8134:0.0:0.0	.	463;464	Q969V3-2;Q969V3	.;NCLN_HUMAN	G	464	ENSP00000246117:R464G	ENSP00000246117:R464G	R	+	1	2	NCLN	3157314	0.960000	0.32886	0.428000	0.26697	0.339000	0.28857	2.252000	0.43196	1.802000	0.52723	0.549000	0.68633	CGG	-	pirsf_Nicalin		0.657	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCLN	protein_coding	OTTHUMT00000452545.1	C	NM_020170	-		3206314	1	no_errors	ENST00000246117	ensembl	human	known	74_37	missense	SNP	0.957	G	G	3206314	C	G	3206314	3	3	62	1	0	0	0	0	1	0	0	0	10229	759	27	4	1436	4	NCLN	19	3206314	Missense_Mutation	SNP	C	TCGA-DX-A48P-01A-11D-A307-09		3206314	55922669	45	3452											
C19orf45	374877	genome.wustl.edu	37	chr19	7573142	7573142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggactgcgcttcttctcAacacaatacaaggacgagtt	10	10	2	0			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr19:7573142A>G	ENST00000361664.2	+	9	1485	c.1344A>G	c.(1342-1344)tcA>tcG	p.S448S	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	448										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCTTCTTCTCAACACAATACA	0.607																																																	0								ENSG00000198723						58	57	57					19																	7573142		2203	4300	6503	C19orf45	SO:0001819	synonymous_variant	0			-	HGNC	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1344A>G	19.37:g.7573142A>G		Somatic	0	47	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	69	37.27	Q8N115	Silent	SNP							NULL	p.S448	ENST00000361664.2	37	c.1344	CCDS12179.2	19																																																																																			-	NULL		0.607	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf45	protein_coding	OTTHUMT00000347808.1	A	NM_198534	-		7573142	1	no_errors	ENST00000361664	ensembl	human	known	74_37	silent	SNP	0.022	G	G	7573142	A	G	7573142	2	3	62	1	0	0	0	0	0	0	0	1	1930	117	5	5		5	C19orf45	19	7573142	Silent	SNP	A	TCGA-DX-A48P-01A-11D-A307-09	4366828	7573142	51555841	46	3453											
CD3EAP	10849	genome.wustl.edu	37	chr19	45912507	45912507	+	Frame_Shift_Del	DEL	G	G	-													accaagaagaagaagaagaaGaaagagagaggtcacacagt					rs200430601		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr19:45912507delG	ENST00000309424.3	+	3	1769	c.1281delG	c.(1279-1281)aagfs	p.K428fs	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.K430fs|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	428	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaagaagaaagagaGAG	0.582																																																	0								ENSG00000117877						41	49	46					19																	45912507		2201	4296	6497	CD3EAP	SO:0001589	frameshift_variant	0				HGNC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1281delG	19.37:g.45912507delG	ENSP00000310966:p.Lys428fs	Somatic	0	23	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	Q32N11|Q7Z5U2|Q9UPF6	Frame_Shift_Del	DEL							pfam_DNA-dir_RNA_pol1_su_RPA34	p.E431fs	ENST00000309424.3	37	c.1287	CCDS12661.1	19																																																																																			-	NULL		0.582	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	protein_coding	OTTHUMT00000459538.1	G	NM_012099			45912507	1	no_errors	ENST00000589804	ensembl	human	known	74_37	frame_shift_del	DEL	0.883	-	-	45912507	G	-	45912507	7	5	62	1	0	1	0	1	0	0	0	0	3014	933	33	0	1291	0	CD3EAP	19	45912507	Frame_Shift_Del	DEL	G	TCGA-DX-A48P-01A-11D-A307-09	38339365	45912507	13216476	47	3454											
PKDREJ	10343	genome.wustl.edu	37	chr22	46655314	46655314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctaggcgatcgaccctcGttgttgtgccacacacggat	11	13	0	0	rs150338973		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453													G|||	1	0.000199681	8e-04	0	5008	,	,		21037	0		0	False		,,,				2504	0																0								ENSG00000130943	G		8,4398	14.3+/-33.2	0,8,2195	125	116	119		3906	-7.6	0.6	22	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	PKDREJ	NM_006071.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		1302/2254	46655314	8,12998	2203	4300	6503	PKDREJ	SO:0001819	synonymous_variant	0			-	HGNC	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3906C>T	22.37:g.46655314G>A		Somatic	0	41	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	111	15.27	B1AJY3|O95850	Silent	SNP							pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.N1302	ENST00000253255.5	37	c.3906	CCDS14073.1	22																																																																																			-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	protein_coding	OTTHUMT00000318466.1	G	NM_006071	rs150338973		46655314	-1	no_errors	ENST00000253255	ensembl	human	known	74_37	silent	SNP	0.003	A	A	46655314	G	A	46655314	2	1	62	1	0	0	0	0	0	0	0	1	11972	1136	40	1		1	PKDREJ	22	46655314	Silent	SNP	G	TCGA-DX-A48P-01A-11D-A307-09		46655314	4649252	48	3455											
TSPYL2	64061	genome.wustl.edu	37	chrX	53115089	53115109	+	In_Frame_Del	DEL	TGACAACAATGAGAGTGCAGA	TGACAACAATGAGAGTGCAGA	-													gctgatgaccacgaaaccacTgacaacaatgagagtgcaga					rs377587714		TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	TGACAACAATGAGAGTGCAGA	TGACAACAATGAGAGTGCAGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chrX:53115089_53115109delTGACAACAATGAGAGTGCAGA	ENST00000375442.4	+	6	1647_1667	c.1515_1535delTGACAACAATGAGAGTGCAGA	c.(1513-1536)actgacaacaatgagagtgcagat>act	p.DNNESAD506del		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	506	Asn-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.D512N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						acgaaaccactgacaacaatgagagtgcagatgacaacaac	0.448																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000184205																																			TSPYL2	SO:0001651	inframe_deletion	0				HGNC	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1515_1535delTGACAACAATGAGAGTGCAGA	X.37:g.53115089_53115109delTGACAACAATGAGAGTGCAGA	ENSP00000364591:p.Asp506_Asp512del	Somatic					0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O94799|Q96DG7|Q9BZW6	In_Frame_Del	DEL							pfam_NAP_family	p.ESADDNN509in_frame_del	ENST00000375442.4	37	c.1515_1535	CCDS14350.1	X																																																																																			-	NULL		0.448	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	protein_coding	OTTHUMT00000056718.1	TGACAACAATGAGAGTGCAGA	NM_022117			53115109	1	no_errors	ENST00000375442	ensembl	human	known	74_37	in_frame_del	DEL	0.026:0.024:0.015:0.010:0.008:0.008:0.005:0.003:0.001:0.000:0.001:0.001:0.001:0.002:0.001:0.000:0.000:0.001:0.000:0.000:0.025	-	-	53115109	TGACAACAATGAGAGTGCAGA	-	53115089	7	5	62	1	0	1	0	1	0	0	0	0	16667	1567	55	0	1537	0	TSPYL2	23	53115089	In_Frame_Del	DEL	TGACAACAATGAGAGTGCAGA	TCGA-DX-A48P-01A-11D-A307-09		53115089	102155471	49	3456											
GPR112	139378	genome.wustl.edu	37	chrX	135431967	135431967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttatgacttcctctacAgtagaggtgtcaaaatcaac	7	9	3	2			TCGA-DX-A48P-01A-11D-A307-09	TCGA-DX-A48P-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a574115-0820-47a8-a5fc-3cce465c23c3	6b704732-d99f-45ab-8e4b-ba2b8912031e	g.chrX:135431967A>G	ENST00000394143.1	+	6	6393	c.6102A>G	c.(6100-6102)acA>acG	p.T2034T	GPR112_ENST00000287534.4_Silent_p.T1971T|GPR112_ENST00000370652.1_Silent_p.T2034T|GPR112_ENST00000412101.1_Silent_p.T1829T|GPR112_ENST00000394141.1_Silent_p.T1829T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2034					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)					CTTCCTCTACAGTAGAGGTGT	0.453																																																	0								ENSG00000156920						159	125	137					X																	135431967		2203	4300	6503	GPR112	SO:0001819	synonymous_variant	0			-	HGNC	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.6102A>G	X.37:g.135431967A>G		Somatic	0	30	0		0.671765495987457				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	90	13.46	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T2034	ENST00000394143.1	37	c.6102	CCDS35409.1	X																																																																																			-	NULL		0.453	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	A		-		135431967	1	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	SNP	0.000	G	G	135431967	A	G	135431967	2	3	62	1	0	0	0	0	0	0	0	1	6631	175	7	5		5	GPR112	23	135431967	Silent	SNP	A	TCGA-DX-A48P-01A-11D-A307-09	82316878	135431967	19838593	50	3457											
TFAP2E	339488	genome.wustl.edu	37	chr1	36060270	36060270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggatgccaagcatcGgaaataactgcttctcccac	10	11	1	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr1:36060270G>A	ENST00000373235.3	+	7	1530	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCCAAGCATCGGAAATAACTG	0.547																																																	0								ENSG00000116819						76	74	75					1																	36060270		2203	4300	6503	TFAP2E	SO:0001583	missense	0			-	HGNC	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.1322G>A	1.37:g.36060270G>A	ENSP00000362332:p.Arg441Gln	Somatic	0	59	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42		Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C	p.R441Q	ENST00000373235.3	37	c.1322	CCDS393.2	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593787	0.66219	.	.	ENSG00000116819	ENST00000373235	D	0.98264	-4.83	5.38	3.51	0.40186	.	0.000000	0.85682	D	0.000000	D	0.96030	0.8707	M	0.64170	1.965	0.58432	D	0.999993	B	0.33379	0.41	B	0.17098	0.017	D	0.93778	0.7081	10	0.87932	D	0	-8.3847	11.8313	0.52297	0.1419:0.0:0.8581:0.0	.	441	Q6VUC0	AP2E_HUMAN	Q	441	ENSP00000362332:R441Q	ENSP00000362332:R441Q	R	+	2	0	TFAP2E	35832857	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.774000	0.75012	0.648000	0.30732	0.561000	0.74099	CGG	-	NULL		0.547	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2E	protein_coding	OTTHUMT00000012732.1	G	NM_178548	-		36060270	1	no_errors	ENST00000373235	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36060270	G	A	36060270	3	1	63	1	0	0	0	0	1	0	0	0	15798	1116	39	1	1348	1	TFAP2E	1	36060270	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09		36060270	213190351	1	3458											
LRRC8B	23507	genome.wustl.edu	37	chr1	90050237	90050237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatctgcccttgcagcttttCctatgcactaaactacatta	4	12	1	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr1:90050237C>A	ENST00000330947.2	+	5	2388	c.2028C>A	c.(2026-2028)ttC>ttA	p.F676L	LRRC8B_ENST00000439853.1_Missense_Mutation_p.F676L|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.F676L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	676					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGCAGCTTTTCCTATGCACTA	0.378																																																	0								ENSG00000197147						110	107	108					1																	90050237		2203	4300	6503	LRRC8B	SO:0001583	missense	0			-	HGNC	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2028C>A	1.37:g.90050237C>A	ENSP00000332674:p.Phe676Leu	Somatic	0	21	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F676L	ENST00000330947.2	37	c.2028	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734540	0.48939	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.00882	5.58;5.58;5.58	5.17	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.00328	0.0010	N	0.25825	0.765	0.43439	D	0.995613	B	0.31256	0.316	B	0.28991	0.097	T	0.61397	-0.7071	9	.	.	.	.	7.9825	0.30192	0.0:0.4419:0.0:0.5581	.	676	Q6P9F7	LRC8B_HUMAN	L	676	ENSP00000332674:F676L;ENSP00000350933:F676L;ENSP00000400704:F676L	.	F	+	3	2	LRRC8B	89822825	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.491000	0.22419	0.522000	0.28464	0.561000	0.74099	TTC	-	smart_Leu-rich_rpt_typical-subtyp		0.378	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	protein_coding	OTTHUMT00000028008.1	C	NM_015350	-		90050237	1	no_errors	ENST00000330947	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90050237	C	A	90050237	3	1	63	1	0	0	0	0	1	0	0	0	9024	854	30	3	2030	3	LRRC8B	1	90050237	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	53989967	90050237	159200384	2	3459											
FDPS	2224	genome.wustl.edu	37	chr1	155290334	155290342	+	In_Frame_Del	DEL	CGCAGCACC	CGCAGCACC	-													atggctctcattgaacagtaCgcagcacccctgcccccagc							TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	CGCAGCACC	CGCAGCACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr1:155290334_155290342delCGCAGCACC	ENST00000356657.6	+	11	1356_1364	c.1194_1202delCGCAGCACC	c.(1192-1203)tacgcagcaccc>tac	p.AAP399del	RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_In_Frame_Del_p.AAP399del|FDPS_ENST00000447866.1_In_Frame_Del_p.AAP333del|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	399					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TTGAACAGTACGCAGCACCCCTGCCCCCA	0.536																																																	0								ENSG00000160752																																			FDPS	SO:0001651	inframe_deletion	0				HGNC	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.1194_1202delCGCAGCACC	1.37:g.155290334_155290342delCGCAGCACC	ENSP00000349078:p.Ala399_Pro401del	Somatic					0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DV91|E9PCI9|Q96G29	In_Frame_Del	DEL							pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.AAP399in_frame_del	ENST00000356657.6	37	c.1194_1202	CCDS1110.1	1																																																																																			-	superfamily_Terpenoid_synth		0.536	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	protein_coding	OTTHUMT00000039053.1	CGCAGCACC	NM_002004			155290342	1	no_errors	ENST00000356657	ensembl	human	known	74_37	in_frame_del	DEL	0.862:0.905:0.903:0.002:0.000:0.001:0.001:0.936:0.989	-	-	155290342	CGCAGCACC	-	155290334	7	5	63	1	0	1	0	1	0	0	0	0	5805	547	19	0	1232	0	FDPS	1	155290334	In_Frame_Del	DEL	CGCAGCACC	TCGA-DX-A48R-01A-11D-A307-09	65240097	155290334	93960287	3	3460											
OR2T3	343173	genome.wustl.edu	37	chr1	248637398	248637398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccacctgctcctcccaCatgatcatagtgctgctgct	8	15	1	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr1:248637398C>T	ENST00000359594.2	+	1	772	c.747C>T	c.(745-747)caC>caT	p.H249H		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GCTCCTCCCACATGATCATAG	0.547																																																	0								ENSG00000196539																																			OR2T3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.747C>T	1.37:g.248637398C>T		Somatic	0	257	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	227	17.15	B2RNJ1	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H249	ENST00000359594.2	37	c.747	CCDS31117.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	protein_coding	OTTHUMT00000097348.1	C	NM_001005495	-		248637398	1	no_errors	ENST00000359594	ensembl	human	known	74_37	silent	SNP	0.911	T	T	248637398	C	T	248637398	2	4	63	1	0	0	0	0	0	0	0	1	11025	477	17	2		2	OR2T3	1	248637398	Silent	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	93347064	248637398	613223	4	3461											
OR2T34	127068	genome.wustl.edu	37	chr1	248737312	248737312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcactatgatcatGtgggaggagcaggtggccaa	15	8	1	1	rs143585056	byFrequency	TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr1:248737312G>A	ENST00000328782.2	-	1	768	c.747C>T	c.(745-747)caC>caT	p.H249H		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	249						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(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			CTATGATCATGTGGGAGGAGC	0.552													g|||	12	0.00239617	8e-04	0.0029	5008	,	,		13407	0		0.008	False		,,,				2504	0.001																0								ENSG00000183310	G		9,4339		0,9,2165	82	92	89		747	0.2	0.8	1	dbSNP_134	89	48,8552		0,48,4252	no	coding-synonymous	OR2T34	NM_001001821.1		0,57,6417	AA,AG,GG		0.5581,0.207,0.4402		249/319	248737312	57,12891	2174	4300	6474	OR2T34	SO:0001819	synonymous_variant	0			-	HGNC	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.747C>T	1.37:g.248737312G>A		Somatic	0	121	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	92	30.30	B2RNJ8|Q6IEY5|Q96R31	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H249	ENST00000328782.2	37	c.747	CCDS31120.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.552	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	protein_coding	OTTHUMT00000097138.1	G	NM_001001821	rs143585056		248737312	-1	no_errors	ENST00000328782	ensembl	human	known	74_37	silent	SNP	0.995	A	A	248737312	G	A	248737312	2	1	63	1	0	0	0	0	0	0	0	1	11027	1368	48	2		2	OR2T34	1	248737312	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	99914	248737312	513309	5	3462											
NEB	4703	genome.wustl.edu	37	chr2	152425138	152425138	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccatatacttacatcatcGaggatctcgccactttgttt	6	11	2	0	rs377183242		TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr2:152425138G>A	ENST00000172853.10	-	83	12672	c.12525C>T	c.(12523-12525)ctC>ctT	p.L4175L	NEB_ENST00000409198.1_Silent_p.L4175L|NEB_ENST00000427231.2_Silent_p.L5876L|NEB_ENST00000603639.1_Silent_p.L5876L|NEB_ENST00000397345.3_Silent_p.L5876L|NEB_ENST00000604864.1_Silent_p.L5876L			P20929	NEBU_HUMAN	nebulin	4175					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)		TTACATCATCGAGGATCTCGC	0.378																																																	0								ENSG00000183091	G	,,	1,3949		0,1,1974	100	91	94		17628,17628,12525	-11.9	0.1	2		94	0,8374		0,0,4187	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,6161	AA,AG,GG		0.0,0.0253,0.0081	,,	5876/8526,5876/8526,4175/6670	152425138	1,12323	1975	4187	6162	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.12525C>T	2.37:g.152425138G>A		Somatic	0	127	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	73	44.27	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L5876	ENST00000172853.10	37	c.17628		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.378	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152425138	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.010	A	A	152425138	G	A	152425138	2	1	63	1	0	0	0	0	0	0	0	1	10304	1045	37	1		1	NEB	2	152425138	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09		152425138	90774235	6	3463											
ATP5G3	518	genome.wustl.edu	37	chr2	176044904	176044904	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaactctggatccagctcgGatctattaatgaaaaaaaaa	7	8	2	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr2:176044904G>T	ENST00000284727.4	-	3	3066	c.42C>A	c.(40-42)atC>atA	p.I14I	ATP5G3_ENST00000409194.1_Silent_p.I14I|ATP5G3_ENST00000392541.3_Silent_p.I14I	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	14					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ATCCAGCTCGGATCTATTAAT	0.348																																					GBM(30;387 605 18606 28805 47989)												0								ENSG00000154518						77	78	77					2																	176044904		2203	4300	6503	ATP5G3	SO:0001819	synonymous_variant	0			-	HGNC	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	843	protein-coding gene	gene with protein product		602736	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.42C>A	2.37:g.176044904G>T		Somatic	0	114	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	107	20.15	B2R4Z0|D3DPF0|Q4ZFX7	Silent	SNP							pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu	p.I14	ENST00000284727.4	37	c.42	CCDS2263.1	2																																																																																			-	NULL		0.348	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5G3	protein_coding	OTTHUMT00000255563.1	G	NM_001689	-		176044904	-1	no_errors	ENST00000284727	ensembl	human	known	74_37	silent	SNP	1.000	T	T	176044904	G	T	176044904	2	4	63	1	0	0	0	0	0	0	0	1	1155	1164	41	3		3	ATP5G3	2	176044904	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	23619766	176044904	67154469	7	3464											
TTN	7273	genome.wustl.edu	37	chr2	179431620	179431620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaataatctcacttccaccAtcactatctggacggttcca	4	15	3	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr2:179431620A>G	ENST00000591111.1	-	276	74540	c.74316T>C	c.(74314-74316)gaT>gaC	p.D24772D	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D17473D|TTN_ENST00000460472.2_Silent_p.D17348D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.D23845D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.D17540D|TTN_ENST00000589042.1_Silent_p.D26413D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24772	Fibronectin type-III 80. {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)			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)			CACTTCCACCATCACTATCTG	0.408																																																	0								ENSG00000155657						70	68	68					2																	179431620		1873	4104	5977	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.74316T>C	2.37:g.179431620A>G		Somatic	0	63	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	41	46.75	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D23845	ENST00000591111.1	37	c.71535		2																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378	-		179431620	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	G	G	179431620	A	G	179431620	2	3	63	1	0	0	0	0	0	0	0	1	16742	214	8	5		5	TTN	2	179431620	Silent	SNP	A	TCGA-DX-A48R-01A-11D-A307-09	3386716	179431620	63767753	8	3465											
HLTF	6596	genome.wustl.edu	37	chr3	148792110	148792110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagaggcatggtaaaagCattgtttgcaccaaaaggaa	11	6	0	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr3:148792110C>T	ENST00000310053.5	-	4	614	c.421G>A	c.(421-423)Gct>Act	p.A141T	HLTF_ENST00000392912.2_Missense_Mutation_p.A141T|HLTF_ENST00000465259.1_Missense_Mutation_p.A141T|HLTF_ENST00000494055.1_Missense_Mutation_p.A141T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	141					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGGTAAAAGCATTGTTTGCA	0.353																																																	0								ENSG00000071794						88	87	87					3																	148792110		2203	4300	6503	HLTF	SO:0001583	missense	0			-	HGNC	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.421G>A	3.37:g.148792110C>T	ENSP00000308944:p.Ala141Thr	Somatic	0	62	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.92	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP							pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A141T	ENST00000310053.5	37	c.421	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529686	0.27387	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.4	0.21	0.15231	HIP116, Rad5p N-terminal (2);	.	.	.	.	T	0.76793	0.4037	L	0.28192	0.835	0.33259	D	0.559556	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.64601	-0.6369	9	0.13853	T	0.58	-13.9535	5.1953	0.15233	0.1331:0.5597:0.0:0.3072	.	141;141;141	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	T	141;141;141;141;138;138	ENSP00000420745:A141T;ENSP00000308944:A141T;ENSP00000376644:A141T;ENSP00000420429:A141T	ENSP00000308944:A141T	A	-	1	0	HLTF	150274800	0.755000	0.28372	0.997000	0.53966	0.980000	0.70556	-0.183000	0.09712	0.018000	0.15052	-0.274000	0.10170	GCT	-	pfam_HIP116_Rad5p_N,smart_HIP116_Rad5p_N		0.353	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	protein_coding	OTTHUMT00000356064.1	C		-		148792110	-1	no_errors	ENST00000310053	ensembl	human	known	74_37	missense	SNP	0.996	T	T	148792110	C	T	148792110	3	4	63	1	0	0	0	0	1	0	0	0	7217	710	25	2	2696	2	HLTF	3	148792110	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		148792110	49230320	9	3466											
SLC2A2	6514	genome.wustl.edu	37	chr3	170723821	170723821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcagagactgaaggatgGctcgcacaccagacaggcca	13	11	0	3			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr3:170723821G>A	ENST00000314251.3	-	6	765	c.686C>T	c.(685-687)gCc>gTc	p.A229V	SLC2A2_ENST00000382808.4_Missense_Mutation_p.A110V	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	229					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	CTGAAGGATGGCTCGCACACC	0.423																																																	0								ENSG00000163581						112	105	107					3																	170723821		2203	4299	6502	SLC2A2	SO:0001583	missense	0			-	HGNC	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.686C>T	3.37:g.170723821G>A	ENSP00000323568:p.Ala229Val	Somatic	0	61	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.A229V	ENST00000314251.3	37	c.686	CCDS3215.1	3	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250532	0.59212	.	.	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.78595	-1.19;-1.19;-1.19	5.62	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	M	0.89601	3.045	0.80722	D	1	D	0.54397	0.966	P	0.58391	0.838	D	0.90219	0.4270	10	0.62326	D	0.03	.	14.0613	0.64802	0.0724:0.0:0.9276:0.0	.	229	P11168	GTR2_HUMAN	V	229;110;56	ENSP00000323568:A229V;ENSP00000372258:A110V;ENSP00000418888:A56V	ENSP00000323568:A229V	A	-	2	0	SLC2A2	172206515	1.000000	0.71417	0.074000	0.20217	0.026000	0.11368	9.441000	0.97557	1.528000	0.49103	0.650000	0.86243	GCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.423	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	protein_coding	OTTHUMT00000352834.1	G	NM_000340	-		170723821	-1	no_errors	ENST00000314251	ensembl	human	known	74_37	missense	SNP	0.998	A	A	170723821	G	A	170723821	3	1	63	1	0	0	0	0	1	0	0	0	14552	1203	42	2	912	2	SLC2A2	3	170723821	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	21931711	170723821	27298609	10	3467											
ZMAT3	64393	genome.wustl.edu	37	chr3	178785423	178785423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaggaagcctcctgccCaaaaggcttctgtggtggaa	13	10	1	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr3:178785423C>G	ENST00000311417.2	-	2	859	c.118G>C	c.(118-120)Ggg>Cgg	p.G40R	ZMAT3_ENST00000432729.1_Missense_Mutation_p.G40R	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GCCTCCTGCCCAAAAGGCTTC	0.582																																																	0								ENSG00000172667						121	117	119					3																	178785423		2203	4300	6503	ZMAT3	SO:0001583	missense	0			-	HGNC	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.118G>C	3.37:g.178785423C>G	ENSP00000311221:p.Gly40Arg	Somatic	0	184	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	111	63	63.43		Missense_Mutation	SNP							pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.G40R	ENST00000311417.2	37	c.118	CCDS3224.1	3	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633071	0.67015	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.44482	0.92;0.93;0.92	5.86	5.86	0.93980	.	0.308349	0.31709	N	0.007183	T	0.29684	0.0741	L	0.27053	0.805	0.38465	D	0.947314	P;P	0.43701	0.815;0.718	B;B	0.37508	0.252;0.128	T	0.12656	-1.0539	10	0.35671	T	0.21	-19.1239	13.3953	0.60849	0.0:0.9285:0.0:0.0715	.	40;40	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	R	40	ENSP00000311221:G40R;ENSP00000396506:G40R;ENSP00000398920:G40R	ENSP00000311221:G40R	G	-	1	0	ZMAT3	180268117	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.838000	0.48199	2.771000	0.95319	0.563000	0.77884	GGG	-	NULL		0.582	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMAT3	protein_coding	OTTHUMT00000348336.2	C	NM_152240	-		178785423	-1	no_errors	ENST00000311417	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178785423	C	G	178785423	3	3	63	1	0	0	0	0	1	0	0	0	17700	594	21	4	771	4	ZMAT3	3	178785423	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	8061602	178785423	19237007	11	3468											
WDFY3	23001	genome.wustl.edu	37	chr4	85696275	85696275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagatgaagttcatatGgtgcatggagccagacctat	12	6	1	3			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr4:85696275G>T	ENST00000295888.4	-	28	4942	c.4535C>A	c.(4534-4536)cCa>cAa	p.P1512Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.P1512Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1512					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGTTCATATGGTGCATGGAG	0.333																																																	0								ENSG00000163625						54	56	56					4																	85696275		2203	4299	6502	WDFY3	SO:0001583	missense	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4535C>A	4.37:g.85696275G>T	ENSP00000295888:p.Pro1512Gln	Somatic	0	61	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1512Q	ENST00000295888.4	37	c.4535	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990296	0.74589	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66099	-0.19;-0.19	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.79100	-0.1942	10	0.62326	D	0.03	.	19.1847	0.93639	0.0:0.0:1.0:0.0	.	1512	Q8IZQ1	WDFY3_HUMAN	Q	1512	ENSP00000318466:P1512Q;ENSP00000295888:P1512Q	ENSP00000295888:P1512Q	P	-	2	0	WDFY3	85915299	1.000000	0.71417	0.465000	0.27155	0.976000	0.68499	7.724000	0.84798	2.603000	0.88011	0.655000	0.94253	CCA	-	NULL		0.333	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991	-		85696275	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	SNP	0.998	T	T	85696275	G	T	85696275	3	4	63	1	0	0	0	0	1	0	0	0	17277	1348	47	3	6209	3	WDFY3	4	85696275	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09		85696275	105458001	12	3469											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-													ataaccccggcttcgaggccGaggaggaggaggaggaggtg							TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0								ENSG00000118762			18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				PKD2	SO:0001651	inframe_deletion	0				HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del	Somatic	0	71	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL							pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			-	NULL		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	GAG	NM_000297			88929176	1	no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	63	1	0	1	0	1	0	0	0	0	11968	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-DX-A48R-01A-11D-A307-09	3232899	88929174	102225102	13	3470											
MICA	100507436	genome.wustl.edu	37	chr6	31378924	31378924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagctcccagcatttctActacgatggggagctcttcc	10	13	2	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr6:31378924A>G	ENST00000449934.2	+	3	455	c.401A>G	c.(400-402)tAc>tGc	p.Y134C	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGCATTTCTACTACGATGGG	0.552																																																	0								ENSG00000204520						45	42	43					6																	31378924		692	1591	2283	MICA	SO:0001583	missense	0			-	HGNC	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.401A>G	6.37:g.31378924A>G	ENSP00000413079:p.Tyr134Cys	Somatic	0	56	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	46.77		Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y134C	ENST00000449934.2	37	c.401	CCDS56412.1	6	.	.	.	.	.	.	.	.	.	.	N	9.153	1.016731	0.19355	.	.	ENSG00000204520	ENST00000364810;ENST00000449934	T	0.01685	4.69	1.94	-1.76	0.08006	.	2.341720	0.02050	N	0.049981	T	0.02929	0.0087	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.19712	-1.0297	10	0.59425	D	0.04	.	3.5661	0.07900	0.4719:0.2051:0.323:0.0	.	134	Q96QC4	.	C	134	ENSP00000413079:Y134C	ENSP00000365394:Y134C	Y	+	2	0	MICA	31486903	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.176000	0.03099	-0.759000	0.04684	0.254000	0.18369	TAC	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.552	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	protein_coding	OTTHUMT00000076101.7	A	NM_001177519	-		31378924	1	no_errors	ENST00000449934	ensembl	human	known	74_37	missense	SNP	0.000	G	G	31378924	A	G	31378924	3	3	63	1	0	0	0	0	1	0	0	0	9570	391	14	5	411	5	MICA	6	31378924	Missense_Mutation	SNP	A	TCGA-DX-A48R-01A-11D-A307-09		31378924	139736143	14	3471											
TREML1	340205	genome.wustl.edu	37	chr6	41121641	41121641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccaggtctgtgagaaaCgtacgcctgcccgctggagc	12	15	1	1	rs201231028		TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr6:41121641C>T	ENST00000426005.2	-	2	274	c.231G>A	c.(229-231)acG>acA	p.T77T	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Silent_p.T77T	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	77	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGTGAGAAACGTACGCCTGC	0.627													C|||	1	0.000199681	0	0	5008	,	,		17837	0		0	False		,,,				2504	0.001																0								ENSG00000161911	C		0,4406		0,0,2203	43	46	45		231	-11.9	0	6		45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TREML1	NM_178174.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		77/312	41121641	2,13004	2203	4300	6503	TREML1	SO:0001819	synonymous_variant	0			-	HGNC	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.231G>A	6.37:g.41121641C>T		Somatic	0	156	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	115	16.67	Q496B3|Q8IWY1|Q8IWY2	Silent	SNP							pfam_Ig_V-set	p.T77	ENST00000426005.2	37	c.231	CCDS4851.1	6																																																																																			-	pfam_Ig_V-set		0.627	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TREML1	protein_coding	OTTHUMT00000043538.2	C	NM_178174	rs201231028		41121641	-1	no_errors	ENST00000426005	ensembl	human	known	74_37	silent	SNP	0.000	T	T	41121641	C	T	41121641	2	4	63	1	0	0	0	0	0	0	0	1	16479	523	19	1		1	TREML1	6	41121641	Silent	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	9742717	41121641	129993426	15	3472											
PKHD1	5314	genome.wustl.edu	37	chr6	51930781	51930781	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatagttacctgcaatGgtaacctgggcagaattgtc	9	9	2	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr6:51930781G>C	ENST00000371117.3	-	12	1148	c.873C>G	c.(871-873)acC>acG	p.T291T	PKHD1_ENST00000340994.4_Silent_p.T291T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	291	IPT/TIG 3.				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)					TACCTGCAATGGTAACCTGGG	0.403																																																	0								ENSG00000170927						95	94	94					6																	51930781		2203	4300	6503	PKHD1	SO:0001819	synonymous_variant	0			-	HGNC	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.873C>G	6.37:g.51930781G>C		Somatic	0	319	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	150	152	49.67	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.T291	ENST00000371117.3	37	c.873	CCDS4935.1	6																																																																																			-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	-		51930781	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	SNP	0.006	C	C	51930781	G	C	51930781	2	2	63	1	0	0	0	0	0	0	0	1	11973	1335	47	4		4	PKHD1	6	51930781	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	10809140	51930781	119184286	16	3473											
MDN1	23195	genome.wustl.edu	37	chr6	90388356	90388356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagaggtctgacaaagctCgctgtttttgcatgagaatg	11	6	1	3			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr6:90388356C>T	ENST00000369393.3	-	75	12489	c.12374G>A	c.(12373-12375)cGa>cAa	p.R4125Q	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4125Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4125					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R4125L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGACAAAGCTCGCTGTTTTTG	0.443																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000112159						190	171	177					6																	90388356		2203	4300	6503	MDN1	SO:0001583	missense	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12374G>A	6.37:g.90388356C>T	ENSP00000358400:p.Arg4125Gln	Somatic	0	151	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	83	50.30	O15019|Q5T794	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R4125Q	ENST00000369393.3	37	c.12374	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285564	0.40394	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	T	0.10380	0.0254	M	0.63843	1.955	0.54753	D	0.999986	D	0.89917	1.0	D	0.80764	0.994	T	0.07177	-1.0786	10	0.45353	T	0.12	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	4125	Q9NU22	MDN1_HUMAN	Q	4125	ENSP00000358400:R4125Q;ENSP00000413970:R4125Q	ENSP00000358400:R4125Q	R	-	2	0	MDN1	90445077	1.000000	0.71417	0.998000	0.56505	0.077000	0.17291	7.382000	0.79729	2.277000	0.76020	0.561000	0.74099	CGA	-	pirsf_Midasin		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	C		-		90388356	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90388356	C	T	90388356	3	4	63	1	0	0	0	0	1	0	0	0	9417	884	31	1	4528	1	MDN1	6	90388356	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	38457575	90388356	80726711	17	3474											
ABCA13	154664	genome.wustl.edu	37	chr7	48314976	48314976	+	Nonsense_Mutation	SNP	G	G	T													ctattcttctggagctctctGaagtcttccatgttaacatt							TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr7:48314976G>T	ENST00000435803.1	+	17	5737	c.5713G>T	c.(5713-5715)Gaa>Taa	p.E1905*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1905					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAGCTCTCTGAAGTCTTCCA	0.373																																																	0								ENSG00000179869						93	97	95					7																	48314976		1824	4072	5896	ABCA13	SO:0001587	stop_gained	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5713G>T	7.37:g.48314976G>T	ENSP00000411096:p.Glu1905*	Somatic	0	105	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	49	46.74	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1905*	ENST00000435803.1	37	c.5713	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.625111	0.99223	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.95	3.17	0.36434	.	0.249386	0.27871	N	0.017509	.	.	.	.	.	.	0.19575	N	0.999968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7605	0.40530	0.0701:0.2629:0.667:0.0	.	.	.	.	X	1905	.	.	E	+	1	0	ABCA13	48285522	0.924000	0.31332	0.001000	0.08648	0.002000	0.02628	1.848000	0.39309	0.407000	0.25591	-0.172000	0.13284	GAA	-	NULL		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48314976	1	no_errors	ENST00000435803	ensembl	human	known	74_37	nonsense	SNP	0.014	T	T	48314976	G	T	48314976	4	4	63	1	0	0	0	0	0	1	0	0	31	1291	45	3	5608	3	ABCA13	7	48314976	Nonsense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09		48314976	110823687	18	3475	47	2									
ABCA13	154664	genome.wustl.edu	37	chr7	48314977	48314977	+	Missense_Mutation	SNP	A	A	T													tattcttctggagctctctgAagtcttccatgttaacattt							TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr7:48314977A>T	ENST00000435803.1	+	17	5738	c.5714A>T	c.(5713-5715)gAa>gTa	p.E1905V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1905					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGCTCTCTGAAGTCTTCCAT	0.378																																																	0								ENSG00000179869						94	97	96					7																	48314977		1823	4072	5895	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5714A>T	7.37:g.48314977A>T	ENSP00000411096:p.Glu1905Val	Somatic	1	105	0.94		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	50	45.65	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1905V	ENST00000435803.1	37	c.5714	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	9.065	0.995380	0.19043	.	.	ENSG00000179869	ENST00000435803	T	0.33216	1.42	5.95	4.8	0.61643	.	0.249386	0.27871	N	0.017509	T	0.35364	0.0929	M	0.66939	2.045	0.24994	N	0.991516	P	0.45396	0.857	P	0.44477	0.451	T	0.25152	-1.0140	9	.	.	.	.	10.046	0.42186	0.9244:0.0:0.0756:0.0	.	1905	Q86UQ4	ABCAD_HUMAN	V	1905	ENSP00000411096:E1905V	.	E	+	2	0	ABCA13	48285523	0.917000	0.31117	0.003000	0.11579	0.002000	0.02628	3.043000	0.49823	1.074000	0.40909	0.528000	0.53228	GAA	-	NULL		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	A	NM_152701	-		48314977	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.018	T	T	48314977	A	T	48314977	3	4	63	1	0	0	0	0	1	0	0	0	31	246	9	5	5609	5	ABCA13	7	48314977	Missense_Mutation	SNP	A	TCGA-DX-A48R-01A-11D-A307-09	1	48314977	110823686	19	3476	47	2									
MAGI2	9863	genome.wustl.edu	37	chr7	78636524	78636524	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctttatcaacaattcctccTaaaaataaaaaaagtttctt	1	8	3	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr7:78636524T>A	ENST00000354212.4	-	2	555		c.e2-2		MAGI2-AS2_ENST00000411616.1_RNA|MAGI2_ENST00000522391.1_Splice_Site|MAGI2_ENST00000419488.1_Splice_Site	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2						cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAATTCCTCCTAAAAATAAAA	0.353																																																	0								ENSG00000187391						71	67	69					7																	78636524		2203	4300	6503	MAGI2	SO:0001630	splice_region_variant	0			-	HGNC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.302-2A>T	7.37:g.78636524T>A		Somatic	0	78	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Splice_Site	SNP							-	e2-2	ENST00000354212.4	37	c.302-2	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122420	0.77436	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2353	0.65922	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAGI2	78474460	1.000000	0.71417	0.968000	0.41197	0.803000	0.45373	7.902000	0.87389	1.960000	0.56953	0.467000	0.42956	.	-	-		0.353	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	protein_coding	OTTHUMT00000253197.3	T	NM_012301	-	Intron	78636524	-1	no_errors	ENST00000354212	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	78636524	T	A	78636524	5	1	63	1	0	0	0	0	0	0	1	0	9193	1536	53	5	4151	5	MAGI2	7	78636524	Splice_Site	SNP	T	TCGA-DX-A48R-01A-11D-A307-09	30321547	78636524	80502139	20	3477											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68113722	68113722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaagcctctgctggacCtcctcccaggcactaacgcg	8	16	2	0	rs141949495	byFrequency	TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr8:68113722C>T	ENST00000262215.3	-	37	5636	c.5247G>A	c.(5245-5247)gaG>gaA	p.E1749E	ARFGEF1_ENST00000518230.1_Silent_p.E587E|ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.E1203E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1749					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTGCTGGACCTCCTCCCAGG	0.582																																																	0								ENSG00000066777						71	65	67					8																	68113722		2203	4300	6503	ARFGEF1	SO:0001819	synonymous_variant	0			-	HGNC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5247G>A	8.37:g.68113722C>T		Somatic	0	93	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	29	61.33	Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP							pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.E1749	ENST00000262215.3	37	c.5247	CCDS6199.1	8																																																																																			-	NULL		0.582	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	protein_coding	OTTHUMT00000379441.4	C	NM_006421	-		68113722	-1	no_errors	ENST00000262215	ensembl	human	known	74_37	silent	SNP	1.000	T	T	68113722	C	T	68113722	2	4	63	1	0	0	0	0	0	0	0	1	852	680	24	2		2	ARFGEF1	8	68113722	Silent	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		68113722	78250300	21	3478											
MPDZ	8777	genome.wustl.edu	37	chr9	13223587	13223587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctatgggccacactgccCtcttgtatctcttgaacaaa	6	14	2	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr9:13223587C>T	ENST00000319217.7	-	5	763	c.516G>A	c.(514-516)gaG>gaA	p.E172E	MPDZ_ENST00000381022.2_Silent_p.E172E|MPDZ_ENST00000536827.1_Silent_p.E172E|MPDZ_ENST00000447879.1_Silent_p.E172E|MPDZ_ENST00000546205.1_Silent_p.E172E|MPDZ_ENST00000541718.1_Silent_p.E172E|MPDZ_ENST00000381015.4_Silent_p.E172E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	172	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		CCACACTGCCCTCTTGTATCT	0.443																																																	0								ENSG00000107186						99	97	98					9																	13223587		1864	4110	5974	MPDZ	SO:0001819	synonymous_variant	0			-	HGNC	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.516G>A	9.37:g.13223587C>T		Somatic	0	125	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	63	41.12	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E172	ENST00000319217.7	37	c.516		9																																																																																			-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	C	NM_003829	-		13223587	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	silent	SNP	0.997	T	T	13223587	C	T	13223587	2	4	63	1	0	0	0	0	0	0	0	1	9724	680	24	2		2	MPDZ	9	13223587	Silent	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		13223587	127989844	22	3479											
OR1J2	26740	genome.wustl.edu	37	chr9	125273520	125273520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcttcttagtggctgTatcttggattctgtcttgtg	11	7	5	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr9:125273520T>C	ENST00000335302.5	+	1	440	c.440T>C	c.(439-441)gTa>gCa	p.V147A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						TTAGTGGCTGTATCTTGGATT	0.498																																																	0								ENSG00000197233						206	161	176					9																	125273520		2203	4300	6503	OR1J2	SO:0001583	missense	0			-	HGNC		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.440T>C	9.37:g.125273520T>C	ENSP00000335575:p.Val147Ala	Somatic	0	187	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	69	46.09	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V147A	ENST00000335302.5	37	c.440	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	T	7.630	0.678689	0.14841	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.36878	1.23	5.02	-10.0	0.00425	GPCR, rhodopsin-like superfamily (1);	1.902390	0.03344	U	0.195254	T	0.20455	0.0492	N	0.13327	0.33	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.12682	-1.0538	10	0.31617	T	0.26	.	13.3722	0.60719	0.0:0.1863:0.6442:0.1695	.	147	Q8NGS2	OR1J2_HUMAN	A	147	ENSP00000335575:V147A	ENSP00000335575:V147A	V	+	2	0	OR1J2	124313341	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.413000	0.01038	-1.848000	0.01172	-0.323000	0.08544	GTA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	protein_coding	OTTHUMT00000053932.1	T		-		125273520	1	no_errors	ENST00000335302	ensembl	human	known	74_37	missense	SNP	0.000	C	C	125273520	T	C	125273520	3	2	63	1	0	0	0	0	1	0	0	0	10962	1638	57	5	442	5	OR1J2	9	125273520	Missense_Mutation	SNP	T	TCGA-DX-A48R-01A-11D-A307-09	112049933	125273520	15939911	23	3480											
ANGPTL2	23452	genome.wustl.edu	37	chr9	129870420	129870420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgctcctcaagctgcgcGatgatctctgattggttgtg	12	10	2	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr9:129870420G>A	ENST00000373425.3	-	2	1208	c.591C>T	c.(589-591)atC>atT	p.I197I	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000491991.1_5'Flank|ANGPTL2_ENST00000373417.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	197					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAAGCTGCGCGATGATCTCTG	0.657																																																	0								ENSG00000136859						45	42	43					9																	129870420		2203	4300	6503	ANGPTL2	SO:0001819	synonymous_variant	0			-	HGNC	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.591C>T	9.37:g.129870420G>A		Somatic	0	53	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	24	56.36	Q5JT58|Q8NCH7	Silent	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.I197	ENST00000373425.3	37	c.591	CCDS6868.1	9																																																																																			-	NULL		0.657	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	protein_coding	OTTHUMT00000054129.1	G	NM_012098	-		129870420	-1	no_errors	ENST00000373425	ensembl	human	known	74_37	silent	SNP	0.077	A	A	129870420	G	A	129870420	2	1	63	1	0	0	0	0	0	0	0	1	614	1048	37	1		1	ANGPTL2	9	129870420	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	4596900	129870420	11343011	24	3481											
MEIG1	644890	genome.wustl.edu	37	chr10	15014543	15014543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggagacaggatatgtgaAgaaacttcagagaagggaca	14	6	1	4			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr10:15014543A>G	ENST00000378240.1	+	2	200	c.170A>G	c.(169-171)aAg>aGg	p.K57R	MEIG1_ENST00000407572.1_Missense_Mutation_p.K57R			Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	57					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				kidney(1)|ovary(1)|prostate(1)	3						GGATATGTGAAGAAACTTCAG	0.383																																																	0								ENSG00000197889						186	175	179					10																	15014543		2203	4300	6503	MEIG1	SO:0001583	missense	0			-	HGNC		CCDS31151.1	10p13	2013-08-05	2013-08-05		ENSG00000197889	ENSG00000197889			23429	protein-coding gene	gene with protein product	"spermatogenesis associated 39"	614174	"meiosis expressed gene 1 homolog (mouse)"			23258628	Standard	NM_001080836		Approved	bA2K17.3, SPATA39	uc009xjk.1	Q5JSS6	OTTHUMG00000017717	ENST00000378240.1:c.170A>G	10.37:g.15014543A>G	ENSP00000367486:p.Lys57Arg	Somatic	0	173	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	84	45.10		Missense_Mutation	SNP							NULL	p.K57R	ENST00000378240.1	37	c.170	CCDS31151.1	10	.	.	.	.	.	.	.	.	.	.	a	19.23	3.788353	0.70337	.	.	ENSG00000197889	ENST00000407572;ENST00000378240	T;T	0.52983	0.64;0.64	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	.	.	.	0.54753	D	0.999986	D	0.67145	0.996	D	0.73708	0.981	T	0.69327	-0.5174	9	0.45353	T	0.12	-13.0612	14.9494	0.71060	1.0:0.0:0.0:0.0	.	57	Q5JSS6	MEIG1_HUMAN	R	57	ENSP00000384334:K57R;ENSP00000367486:K57R	ENSP00000367486:K57R	K	+	2	0	MEIG1	15054549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.739000	0.84976	2.005000	0.58758	0.533000	0.62120	AAG	-	NULL		0.383	MEIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIG1	protein_coding	OTTHUMT00000046942.1	A	XM_927975	-		15014543	1	no_errors	ENST00000378240	ensembl	human	known	74_37	missense	SNP	1.000	G	G	15014543	A	G	15014543	3	3	63	1	0	0	0	0	1	0	0	0	9468	72	3	5	176	5	MEIG1	10	15014543	Missense_Mutation	SNP	A	TCGA-DX-A48R-01A-11D-A307-09		15014543	120520204	25	3482											
CUBN	8029	genome.wustl.edu	37	chr10	16975218	16975218	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactctattactgtaactgtCaggccagcccggggagaaga	11	11	2	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr10:16975218C>G	ENST00000377833.4	-	40	6057	c.5992G>C	c.(5992-5994)Gac>Cac	p.D1998H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1998	CUB 14. {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)			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)	CTGTAACTGTCAGGCCAGCCC	0.527																																																	0								ENSG00000107611						106	91	96					10																	16975218		2203	4300	6503	CUBN	SO:0001583	missense	0			-	HGNC	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.5992G>C	10.37:g.16975218C>G	ENSP00000367064:p.Asp1998His	Somatic	0	80	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	37	41.27	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.D1998H	ENST00000377833.4	37	c.5992	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384716	0.42308	.	.	ENSG00000107611	ENST00000377833	T	0.35789	1.29	5.66	-2.27	0.06846	CUB (5);	1.543370	0.04207	N	0.331073	T	0.27765	0.0683	N	0.26092	0.79	0.09310	N	1	P	0.48998	0.918	P	0.45681	0.49	T	0.20538	-1.0272	10	0.49607	T	0.09	.	4.356	0.11178	0.0942:0.3512:0.0924:0.4622	.	1998	O60494	CUBN_HUMAN	H	1998	ENSP00000367064:D1998H	ENSP00000367064:D1998H	D	-	1	0	CUBN	17015224	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.368000	0.20399	-0.439000	0.07222	-0.793000	0.03317	GAC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.527	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	C	NM_001081	-		16975218	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	SNP	0.000	G	G	16975218	C	G	16975218	3	3	63	1	0	0	0	0	1	0	0	0	4053	826	29	4	4991	4	CUBN	10	16975218	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	1960675	16975218	118559529	26	3483											
ROM1	6094	genome.wustl.edu	37	chr11	62381818	62381818	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccccggccttgcctgCaaaaccgtctttcagactcc	6	18	3	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr11:62381818C>T	ENST00000278833.3	+	2	1220	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	EML3_ENST00000529309.1_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Silent_p.C17C	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	227					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCCTTGCCTGCAAAACCGTCT	0.592																																																	0								ENSG00000149489						126	121	123					11																	62381818		2202	4299	6501	ROM1	SO:0001587	stop_gained	0			-	HGNC	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.679C>T	11.37:g.62381818C>T	ENSP00000278833:p.Gln227*	Somatic	0	70	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	46	36.49	B2R978	Nonsense_Mutation	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.Q227*	ENST00000278833.3	37	c.679	CCDS8024.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.175031	0.98691	.	.	ENSG00000149489	ENST00000278833	.	.	.	5.38	5.38	0.77491	.	0.073762	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-25.2681	16.6182	0.84922	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000278833:Q227X	Q	+	1	0	ROM1	62138394	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.752000	0.68728	2.514000	0.84764	0.462000	0.41574	CAA	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1		0.592	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	protein_coding	OTTHUMT00000394929.1	C	NM_000327	-		62381818	1	no_errors	ENST00000278833	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	62381818	C	T	62381818	4	4	63	1	0	0	0	0	0	1	0	0	13529	711	25	2	685	2	ROM1	11	62381818	Nonsense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		62381818	72624698	27	3484			1	43		3	3	64	C		5.942204e-09
ROM1	6094	genome.wustl.edu	37	chr11	62381831	62381831	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcctgcaaaaccgtctttCagactcctacgcccaccccc	5	19	2	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr11:62381831C>T	ENST00000278833.3	+	2	1233	c.692C>T	c.(691-693)tCa>tTa	p.S231L	EML3_ENST00000529309.1_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Nonsense_Mutation_p.Q22*	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	231					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						AACCGTCTTTCAGACTCCTAC	0.587																																																	0								ENSG00000149489						118	114	115					11																	62381831		2202	4299	6501	ROM1	SO:0001583	missense	0			-	HGNC	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.692C>T	11.37:g.62381831C>T	ENSP00000278833:p.Ser231Leu	Somatic	0	65	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	B2R978	Nonsense_Mutation	SNP							NULL	p.Q22*	ENST00000278833.3	37	c.64	CCDS8024.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	5.984913|5.984913	0.97173|0.97173	.|.	.|.	ENSG00000149489|ENSG00000149489	ENST00000525801;ENST00000534093;ENST00000525947|ENST00000278833	.|T	.|0.03065	.|4.06	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Tetraspanin, EC2 domain (1);	.|0.155567	.|0.43919	.|D	.|0.000519	.|T	.|0.10766	.|0.0263	L|L	0.45581|0.45581	1.43|1.43	0.49915|0.49915	D|D	0.999831|0.999831	.|D	.|0.61697	.|0.99	.|P	.|0.57846	.|0.828	.|T	.|0.07065	.|-1.0792	.|10	0.87932|0.36615	D|T	0|0.2	-23.7917|-23.7917	16.6182|16.6182	0.84922|0.84922	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|231	.|Q03395	.|ROM1_HUMAN	X|L	22|231	.|ENSP00000278833:S231L	ENSP00000433566:Q22X|ENSP00000278833:S231L	Q|S	+|+	1|2	0|0	ROM1|ROM1	62138407|62138407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.668000|0.668000	0.39293|0.39293	5.762000|5.762000	0.68809|0.68809	2.514000|2.514000	0.84764|0.84764	0.462000|0.462000	0.41574|0.41574	CAG|TCA	-	NULL		0.587	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	protein_coding	OTTHUMT00000394929.1	C	NM_000327	-		62381831	1	no_errors	ENST00000534093	ensembl	human	putative	74_37	nonsense	SNP	1.000	T	T	62381831	C	T	62381831	3	4	63	1	0	0	0	0	1	0	0	0	13529	838	29	2	698	2	ROM1	11	62381831	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	13	62381831	72624685	28	3485			1	43		3	3	64	C		5.942204e-09
ROM1	6094	genome.wustl.edu	37	chr11	62381881	62381881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacaacccaaccaaaacCtctgggcccaagggtgccat	8	17	1	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr11:62381881C>T	ENST00000278833.3	+	2	1283	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	EML3_ENST00000529309.1_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Silent_p.T38T	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	248					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CAACCAAAACCTCTGGGCCCA	0.607																																																	0								ENSG00000149489						85	83	83					11																	62381881		2202	4299	6501	ROM1	SO:0001583	missense	0			-	HGNC	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.742C>T	11.37:g.62381881C>T	ENSP00000278833:p.Leu248Phe	Somatic	0	63	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	B2R978	Missense_Mutation	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L248F	ENST00000278833.3	37	c.742	CCDS8024.1	11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154672	0.78114	.	.	ENSG00000149489	ENST00000278833	T	0.80566	-1.39	5.38	5.38	0.77491	Tetraspanin, EC2 domain (1);	0.406771	0.24417	N	0.038709	D	0.89227	0.6655	M	0.73962	2.25	0.45502	D	0.998462	D	0.76494	0.999	D	0.75020	0.985	D	0.90126	0.4203	10	0.72032	D	0.01	-30.1864	16.6182	0.84922	0.0:1.0:0.0:0.0	.	248	Q03395	ROM1_HUMAN	F	248	ENSP00000278833:L248F	ENSP00000278833:L248F	L	+	1	0	ROM1	62138457	0.981000	0.34729	1.000000	0.80357	0.979000	0.70002	0.539000	0.23175	2.514000	0.84764	0.462000	0.41574	CTC	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.607	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	protein_coding	OTTHUMT00000394929.1	C	NM_000327	-		62381881	1	no_errors	ENST00000278833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62381881	C	T	62381881	3	4	63	1	0	0	0	0	1	0	0	0	13529	681	24	2	748	2	ROM1	11	62381881	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	50	62381881	72624635	29	3486			1	43		3	3	64	C		5.942204e-09
OR8D1	283159	genome.wustl.edu	37	chr11	124179837	124179837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaccgtggtgtagaacaCagaggacaccttctcctggt	11	11	2	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr11:124179837C>T	ENST00000357821.2	-	1	896	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTGTAGAACACAGAGGACACC	0.453																																																	0								ENSG00000196341						110	106	108					11																	124179837		2201	4299	6500	OR8D1	SO:0001583	missense	0			-	HGNC	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.826G>A	11.37:g.124179837C>T	ENSP00000350474:p.Val276Met	Somatic	0	98	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	38	44.12	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V276M	ENST00000357821.2	37	c.826	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	9.307	1.054562	0.19907	.	.	ENSG00000196341	ENST00000357821	T	0.00274	8.35	4.29	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.261790	0.19736	U	0.107232	T	0.00496	0.0016	M	0.79475	2.455	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48468	-0.9033	10	0.72032	D	0.01	.	1.9249	0.03315	0.1686:0.4963:0.1636:0.1716	.	276	Q8WZ84	OR8D1_HUMAN	M	276	ENSP00000350474:V276M	ENSP00000350474:V276M	V	-	1	0	OR8D1	123685047	0.000000	0.05858	0.242000	0.24170	0.005000	0.04900	-0.731000	0.04909	2.236000	0.73375	0.508000	0.49915	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	protein_coding	OTTHUMT00000387285.1	C	NM_001002917	-		124179837	-1	no_errors	ENST00000357821	ensembl	human	known	74_37	missense	SNP	0.001	T	T	124179837	C	T	124179837	3	4	63	1	0	0	0	0	1	0	0	0	11233	478	17	2	103	2	OR8D1	11	124179837	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	61797956	124179837	10826679	30	3487											
TAS2R7	50837	genome.wustl.edu	37	chr12	10954758	10954758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataaacacagagagaaccaCgcaccccagtagaatccagg	8	12	0	3	rs554036509	byFrequency	TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr12:10954758C>T	ENST00000240687.2	-	1	468	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	138					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)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GAGAGAACCACGCACCCCAGT	0.413													C|||	2	0.000399361	0	0	5008	,	,		19291	0		0	False		,,,				2504	0.002																0								ENSG00000121377						82	76	78					12																	10954758		2203	4300	6503	TAS2R7	SO:0001583	missense	0			-	HGNC	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.412G>A	12.37:g.10954758C>T	ENSP00000240687:p.Val138Met	Somatic	0	109	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	105	31.82	Q645Y1	Missense_Mutation	SNP							pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V138M	ENST00000240687.2	37	c.412	CCDS8631.1	12	.	.	.	.	.	.	.	.	.	.	C	2.167	-0.390732	0.04932	.	.	ENSG00000121377	ENST00000240687	T	0.37752	1.18	4.94	-4.6	0.03390	GPCR, rhodopsin-like superfamily (1);	1.207280	0.06246	N	0.691274	T	0.23727	0.0574	L	0.39020	1.185	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31613	-0.9937	10	0.52906	T	0.07	.	4.0501	0.09791	0.2164:0.5139:0.1514:0.1183	.	138	Q9NYW3	TA2R7_HUMAN	M	138	ENSP00000240687:V138M	ENSP00000240687:V138M	V	-	1	0	TAS2R7	10846025	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.235000	0.01202	-0.846000	0.04174	-1.530000	0.00923	GTG	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	protein_coding	OTTHUMT00000399931.1	C		-		10954758	-1	no_errors	ENST00000240687	ensembl	human	known	74_37	missense	SNP	0.000	T	T	10954758	C	T	10954758	3	4	63	1	0	0	0	0	1	0	0	0	15593	536	19	1	548	1	TAS2R7	12	10954758	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		10954758	122897137	31	3488											
KCNH5	27133	genome.wustl.edu	37	chr14	63269300	63269300	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggacagatggagaggacCtaaagaaggtgagagatgaa	16	3	0	6			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr14:63269300C>A	ENST00000322893.7	-	9	1838		c.e9-1		KCNH5_ENST00000394968.1_Splice_Site|KCNH5_ENST00000420622.2_Splice_Site	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5						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)			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)		TGGAGAGGACCTAAAGAAGGT	0.413																																																	0								ENSG00000140015						33	35	34					14																	63269300		2203	4300	6503	KCNH5	SO:0001630	splice_region_variant	0			-	HGNC	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.1570-1G>T	14.37:g.63269300C>A		Somatic	0	90	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	45	52.13	C9JP98	Splice_Site	SNP							-	e9-1	ENST00000322893.7	37	c.1570-1	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586479	0.86851	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNH5	62339053	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.681000	0.91329	0.563000	0.77884	.	-	-		0.413	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	C	NM_139318	-	Intron	63269300	-1	no_errors	ENST00000322893	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	63269300	C	A	63269300	5	1	63	1	0	0	0	0	0	0	1	0	8037	695	24	3	1443	3	KCNH5	14	63269300	Splice_Site	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		63269300	44080240	32	3489											
CDH8	1006	genome.wustl.edu	37	chr16	61891134	61891134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcagtgacgttagtgaCagatgtacctaataaaatag	11	6	0	3			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr16:61891134C>A	ENST00000577390.1	-	4	1510	c.556G>T	c.(556-558)Gtc>Ttc	p.V186F	CDH8_ENST00000584337.1_Missense_Mutation_p.V186F|CDH8_ENST00000299345.6_Missense_Mutation_p.V186F|CDH8_ENST00000577730.1_Missense_Mutation_p.V186F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACGTTAGTGACAGATGTACCT	0.353																																																	0								ENSG00000150394						61	56	58					16																	61891134		2203	4300	6503	CDH8	SO:0001583	missense	0			-	HGNC	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.556G>T	16.37:g.61891134C>A	ENSP00000462701:p.Val186Phe	Somatic	0	71	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	5	88.64	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V186F	ENST00000577390.1	37	c.556	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332381	0.81801	.	.	ENSG00000150394	ENST00000299345	T	0.59364	0.27	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82426	0.5034	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85642	0.1277	10	0.87932	D	0	.	19.9535	0.97211	0.0:1.0:0.0:0.0	.	186	P55286	CADH8_HUMAN	F	186	ENSP00000299345:V186F	ENSP00000299345:V186F	V	-	1	0	CDH8	60448635	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.359000	0.79477	2.710000	0.92621	0.557000	0.71058	GTC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.353	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	protein_coding	OTTHUMT00000268754.3	C	NM_001796	-		61891134	-1	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61891134	C	A	61891134	3	1	63	1	0	0	0	0	1	0	0	0	3118	478	17	3	1879	3	CDH8	16	61891134	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		61891134	28463619	33	3490											
ZC3H18	124245	genome.wustl.edu	37	chr16	88677733	88677744	+	In_Frame_Del	DEL	GAGCGGGACCGA	GAGCGGGACCGA	-													gcgagcgcgagcgggagcggGagcgggaccgagagcgggag					rs553557301	byFrequency	TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	GAGCGGGACCGA	GAGCGGGACCGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr16:88677733_88677744delGAGCGGGACCGA	ENST00000301011.5	+	8	1464_1475	c.1264_1275delGAGCGGGACCGA	c.(1264-1275)gagcgggaccgadel	p.ERDR422del	ZC3H18_ENST00000452588.2_In_Frame_Del_p.ERDR446del	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	422						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)		gcgggagcgggagcgggaccgagagcgggagc	0.66																																					Ovarian(121;375 2276 20373 38669)												0								ENSG00000158545																																			ZC3H18	SO:0001651	inframe_deletion	0				HGNC	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.1264_1275delGAGCGGGACCGA	16.37:g.88677733_88677744delGAGCGGGACCGA	ENSP00000301011:p.Glu422_Arg425del	Somatic					0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96DG4|Q96MP7	In_Frame_Del	DEL							smart_Znf_CCCH	p.DRER424in_frame_del	ENST00000301011.5	37	c.1264_1275	CCDS10967.1	16																																																																																			-	NULL		0.66	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	protein_coding	OTTHUMT00000269168.1	GAGCGGGACCGA	NM_144604			88677744	1	no_errors	ENST00000301011	ensembl	human	known	74_37	in_frame_del	DEL	0.989:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.992:0.997:0.991:0.721	-	-	88677744	GAGCGGGACCGA	-	88677733	7	5	63	1	0	1	0	1	0	0	0	0	17575	1175	41	0	1290	0	ZC3H18	16	88677733	In_Frame_Del	DEL	GAGCGGGACCGA	TCGA-DX-A48R-01A-11D-A307-09	26786599	88677733	1677020	34	3491	48	2									
ZC3H18	124245	genome.wustl.edu	37	chr16	88677741	88677741	+	Missense_Mutation	SNP	C	C	G													gagcgggagcgggagcgggaCcgagagcgggagcgccggca							TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr16:88677741C>G	ENST00000301011.5	+	8	1472	c.1272C>G	c.(1270-1272)gaC>gaG	p.D424E	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D448E	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	424						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)		gggagcgggaccgagagcggg	0.677																																					Ovarian(121;375 2276 20373 38669)												0								ENSG00000158545						10	13	12					16																	88677741		2107	4154	6261	ZC3H18	SO:0001583	missense	0			-	HGNC	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.1272C>G	16.37:g.88677741C>G	ENSP00000301011:p.Asp424Glu	Somatic	0	98	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	6	81.25	Q96DG4|Q96MP7	Missense_Mutation	SNP							smart_Znf_CCCH	p.D424E	ENST00000301011.5	37	c.1272	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	c	13.07	2.126701	0.37533	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.35421	1.31;1.31	4.06	-0.924	0.10462	.	0.418758	0.27906	N	0.017376	T	0.11707	0.0285	N	0.04508	-0.205	0.25461	N	0.987915	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.14420	-1.0473	10	0.20519	T	0.43	-15.2248	2.5465	0.04738	0.296:0.321:0.2905:0.0926	.	448;448;424	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	E	424;448	ENSP00000301011:D424E;ENSP00000416951:D448E	ENSP00000301011:D424E	D	+	3	2	ZC3H18	87205242	0.935000	0.31712	0.974000	0.42286	0.987000	0.75469	-0.473000	0.06615	-0.358000	0.08162	0.457000	0.33378	GAC	-	NULL		0.677	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	protein_coding	OTTHUMT00000269168.1	C	NM_144604	-		88677741	1	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	SNP	0.992	G	G	88677741	C	G	88677741	3	3	63	1	0	0	0	0	1	0	0	0	17575	506	18	4	1298	4	ZC3H18	16	88677741	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	8	88677741	1677012	35	3492	48	2									
GLP2R	9340	genome.wustl.edu	37	chr17	9760833	9760833	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggtgaaggacgtcgtcttCtacaactcttactccaagag	9	11	3	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr17:9760833C>G	ENST00000262441.5	+	6	1218	c.705C>G	c.(703-705)ttC>ttG	p.F235L	GLP2R_ENST00000574745.1_Missense_Mutation_p.F55L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	235					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACGTCGTCTTCTACAACTCTT	0.507																																																	0								ENSG00000065325						202	160	174					17																	9760833		2203	4300	6503	GLP2R	SO:0001583	missense	0			-	HGNC	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.705C>G	17.37:g.9760833C>G	ENSP00000262441:p.Phe235Leu	Somatic	0	189	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	513	1514	25.30	Q4VAT3	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F235L	ENST00000262441.5	37	c.705	CCDS11150.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.321725|1.321725	0.23994|0.23994	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441|ENST00000458005	T|.	0.37058|.	1.22|.	5.28|5.28	3.14|3.14	0.36123|0.36123	GPCR, family 2-like (1);|.	0.597927|.	0.14049|.	N|.	0.344913|.	T|T	0.12987|0.12987	0.0315|0.0315	N|N	0.01640|0.01640	-0.785|-0.785	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.02654|.	T|.	1|.	.|.	9.9952|9.9952	0.41896|0.41896	0.193:0.6841:0.1229:0.0|0.193:0.6841:0.1229:0.0	.|.	235|.	O95838|.	GLP2R_HUMAN|.	L|C	235;210;235|88	ENSP00000262441:F235L|.	ENSP00000262441:F235L|.	F|S	+|+	3|2	2|0	GLP2R|GLP2R	9701558|9701558	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.941000|0.941000	0.58515|0.58515	-0.077000|-0.077000	0.11394|0.11394	1.438000|1.438000	0.47492|0.47492	0.655000|0.655000	0.94253|0.94253	TTC|TCT	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.507	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	protein_coding	OTTHUMT00000252601.4	C		-		9760833	1	no_errors	ENST00000262441	ensembl	human	known	74_37	missense	SNP	0.000	G	G	9760833	C	G	9760833	3	3	63	1	0	0	0	0	1	0	0	0	6455	912	32	4	727	4	GLP2R	17	9760833	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		9760833	71434377	36	3493			2	44		2	2	48	C		8.1982e-05
GLP2R	9340	genome.wustl.edu	37	chr17	9760880	9760880	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caatgagaatgggtggatgtCctacctgtcagaggtaatcc	12	8	1	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr17:9760880C>G	ENST00000262441.5	+	6	1265	c.752C>G	c.(751-753)tCc>tGc	p.S251C	GLP2R_ENST00000574745.1_Missense_Mutation_p.S71C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	251					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGGTGGATGTCCTACCTGTCA	0.522																																																	0								ENSG00000065325						179	142	154					17																	9760880		2203	4300	6503	GLP2R	SO:0001583	missense	0			-	HGNC	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.752C>G	17.37:g.9760880C>G	ENSP00000262441:p.Ser251Cys	Somatic	0	123	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	400	1235	24.42	Q4VAT3	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S251C	ENST00000262441.5	37	c.752	CCDS11150.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.04|11.04	1.521898|1.521898	0.27211|0.27211	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000458005|ENST00000396206;ENST00000304773;ENST00000262441	.|T	.|0.57752	.|0.38	5.28|5.28	5.28|5.28	0.74379|0.74379	.|GPCR, family 2-like (1);	.|0.000000	.|0.38548	.|N	.|0.001656	T|T	0.67325|0.67325	0.2881|0.2881	L|L	0.51914|0.51914	1.62|1.62	0.46927|0.46927	D|D	0.999256|0.999256	.|D	.|0.71674	.|0.998	.|D	.|0.69142	.|0.962	T|T	0.66760|0.66760	-0.5842|-0.5842	5|10	.|0.52906	.|T	.|0.07	.|.	17.8584|17.8584	0.88773|0.88773	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|251	.|O95838	.|GLP2R_HUMAN	A|C	104|251;226;251	.|ENSP00000262441:S251C	.|ENSP00000262441:S251C	P|S	+|+	1|2	0|0	GLP2R|GLP2R	9701605|9701605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.629000|0.629000	0.37895|0.37895	3.700000|3.700000	0.54786|0.54786	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.522	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	protein_coding	OTTHUMT00000252601.4	C		-		9760880	1	no_errors	ENST00000262441	ensembl	human	known	74_37	missense	SNP	1.000	G	G	9760880	C	G	9760880	3	3	63	1	0	0	0	0	1	0	0	0	6455	855	30	4	774	4	GLP2R	17	9760880	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	47	9760880	71434330	37	3494			2	44		2	2	48	C		8.1982e-05
MYH2	4620	genome.wustl.edu	37	chr17	10432323	10432323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagctcccgggagaggtcaGagcgctgcttctctgctttg	13	13	2	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr17:10432323G>C	ENST00000245503.5	-	27	3812	c.3428C>G	c.(3427-3429)tCt>tGt	p.S1143C	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1143C|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1143					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGAGAGGTCAGAGCGCTGCTT	0.602																																																	0								ENSG00000125414						50	58	55					17																	10432323		2203	4297	6500	MYH2	SO:0001583	missense	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3428C>G	17.37:g.10432323G>C	ENSP00000245503:p.Ser1143Cys	Somatic	0	166	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	420	1547	21.35	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1143C	ENST00000245503.5	37	c.3428	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215788	0.79352	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.79141	-1.24;-1.24	5.09	5.09	0.68999	Myosin tail (1);	0.207006	0.23979	U	0.042691	D	0.89522	0.6739	M	0.88512	2.96	0.49915	D	0.999831	P	0.48294	0.908	P	0.61533	0.89	D	0.91114	0.4924	10	0.87932	D	0	.	18.6832	0.91554	0.0:0.0:1.0:0.0	.	1143	Q9UKX2	MYH2_HUMAN	C	1143	ENSP00000245503:S1143C;ENSP00000380367:S1143C	ENSP00000245503:S1143C	S	-	2	0	MYH2	10373048	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.392000	0.79840	2.660000	0.90430	0.591000	0.81541	TCT	-	pfam_Myosin_tail		0.602	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	G	NM_017534	-		10432323	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10432323	G	C	10432323	3	2	63	1	0	0	0	0	1	0	0	0	10037	942	33	4	2453	4	MYH2	17	10432323	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	671443	10432323	70762887	38	3495			3	45	671443	3	3	639	G		6.178528e-07
MYH2	4620	genome.wustl.edu	37	chr17	10432929	10432929	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttagctttggtcagggtgttGactttgtcctcctctgcctg	11	10	2	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr17:10432929G>C	ENST00000245503.5	-	24	3453	c.3069C>G	c.(3067-3069)gtC>gtG	p.V1023V	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.V1023V|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1023					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGGGTGTTGACTTTGTCCT	0.463																																																	0								ENSG00000125414						203	193	196					17																	10432929		2203	4297	6500	MYH2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3069C>G	17.37:g.10432929G>C		Somatic	0	443	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	1107	4268	20.57	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1023	ENST00000245503.5	37	c.3069	CCDS11156.1	17																																																																																			-	superfamily_Prefoldin		0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	G	NM_017534	-		10432929	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	SNP	1.000	C	C	10432929	G	C	10432929	2	2	63	1	0	0	0	0	0	0	0	1	10037	1277	45	4		4	MYH2	17	10432929	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	606	10432929	70762281	39	3496			3	45	671443	3	3	639	G		6.178528e-07
MYH2	4620	genome.wustl.edu	37	chr17	10432961	10432961	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcctgcaggtcatccaGggtctgctggtgggcctcct	13	14	3	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr17:10432961G>C	ENST00000245503.5	-	24	3421	c.3037C>G	c.(3037-3039)Ctg>Gtg	p.L1013V	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1013V|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1013					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCATCCAGGGTCTGCTGG	0.488																																																	0								ENSG00000125414						149	146	147					17																	10432961		2202	4281	6483	MYH2	SO:0001583	missense	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3037C>G	17.37:g.10432961G>C	ENSP00000245503:p.Leu1013Val	Somatic	0	373	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	953	3600	20.91	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1013V	ENST00000245503.5	37	c.3037	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070279	0.76301	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.87256	-2.23;-2.23	5.24	5.24	0.73138	.	0.000000	0.31312	U	0.007879	D	0.95449	0.8522	H	0.94503	3.545	0.58432	D	0.999997	D	0.71674	0.998	D	0.70016	0.967	D	0.96265	0.9194	10	0.72032	D	0.01	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1013	Q9UKX2	MYH2_HUMAN	V	1013	ENSP00000245503:L1013V;ENSP00000380367:L1013V	ENSP00000245503:L1013V	L	-	1	2	MYH2	10373686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.144000	0.71762	2.718000	0.92993	0.591000	0.81541	CTG	-	superfamily_Prefoldin		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	G	NM_017534	-		10432961	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10432961	G	C	10432961	3	2	63	1	0	0	0	0	1	0	0	0	10037	991	35	4	2856	4	MYH2	17	10432961	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	32	10432961	70762249	40	3497			3	45	671443	3	3	639	G		6.178528e-07
PTRF	284119	genome.wustl.edu	37	chr17	40556897	40556897	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccacctggccctcgcggatCttcttgacgtggaaggtgaa	12	12	2	2			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr17:40556897C>G	ENST00000357037.5	-	2	1400	c.981G>C	c.(979-981)aaG>aaC	p.K327N		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCGCGGATCTTCTTGACGT	0.677																																																	0								ENSG00000177469						82	73	76					17																	40556897		2203	4300	6503	PTRF	SO:0001583	missense	0			-	HGNC	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.981G>C	17.37:g.40556897C>G	ENSP00000349541:p.Lys327Asn	Somatic	0	57	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92		Missense_Mutation	SNP							NULL	p.K327N	ENST00000357037.5	37	c.981	CCDS11425.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413683	0.83449	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.67698	-0.28	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80294	-0.1443	10	0.72032	D	0.01	-42.0485	11.8171	0.52218	0.0:0.9077:0.0:0.0923	.	309;327	B4DNU9;Q6NZI2	.;PTRF_HUMAN	N	327;282	ENSP00000349541:K327N	ENSP00000349541:K327N	K	-	3	2	PTRF	37810423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.910000	0.56371	2.445000	0.82738	0.557000	0.71058	AAG	-	NULL		0.677	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRF	protein_coding	OTTHUMT00000449938.1	C	NM_012232	-		40556897	-1	no_errors	ENST00000357037	ensembl	human	known	74_37	missense	SNP	1.000	G	G	40556897	C	G	40556897	3	3	63	1	0	0	0	0	1	0	0	0	12823	912	32	4	195	4	PTRF	17	40556897	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	30123936	40556897	40638313	41	3498											
PSTPIP2	9050	genome.wustl.edu	37	chr18	43571883	43571883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaccttgccaagttaggcCctgtagcctttcctgctggg	10	12	0	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr18:43571883C>T	ENST00000409746.5	-	12	976	c.905G>A	c.(904-906)gGg>gAg	p.G302E	PSTPIP2_ENST00000588801.1_Intron|RN7SKP26_ENST00000410247.1_RNA|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.G270S	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	302						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CAAGTTAGGCCCTGTAGCCTT	0.408																																																	0								ENSG00000152229						105	101	102					18																	43571883		2203	4300	6503	PSTPIP2	SO:0001583	missense	0			-	HGNC		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.905G>A	18.37:g.43571883C>T	ENSP00000387261:p.Gly302Glu	Somatic	0	128	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	67	48.09		Missense_Mutation	SNP							pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.G302E	ENST00000409746.5	37	c.905	CCDS32820.2	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.64|15.64	2.893957|2.893957	0.52121|0.52121	.|.	.|.	ENSG00000152229|ENSG00000152229	ENST00000409746|ENST00000360076	T|.	0.34859|.	1.34|.	5.42|5.42	2.52|2.52	0.30459|0.30459	.|.	0.372077|0.372077	0.28156|0.28156	N|N	0.016390|0.016390	T|T	0.33731|0.33731	0.0873|0.0873	M|M	0.64997|0.64997	1.995|1.995	0.19575|0.19575	N|N	0.999964|0.999964	P|B	0.51653|0.33238	0.947|0.403	P|B	0.46659|0.25291	0.523|0.059	T|T	0.28170|0.28170	-1.0052|-1.0052	10|9	0.18710|0.07325	T|T	0.47|0.83	.|.	14.4271|14.4271	0.67222|0.67222	0.0:0.5724:0.4276:0.0|0.0:0.5724:0.4276:0.0	.|.	302|270	Q9H939|Q9H939-2	PPIP2_HUMAN|.	E|S	302|270	ENSP00000387261:G302E|.	ENSP00000387261:G302E|ENSP00000353189:G270S	G|G	-|-	2|1	0|0	PSTPIP2|PSTPIP2	41825881|41825881	0.101000|0.101000	0.21875|0.21875	0.013000|0.013000	0.15412|0.15412	0.165000|0.165000	0.22458|0.22458	-0.126000|-0.126000	0.10563|0.10563	0.301000|0.301000	0.22738|0.22738	-0.224000|-0.224000	0.12420|0.12420	GGG|GGC	-	NULL		0.408	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	protein_coding	OTTHUMT00000327522.1	C		-		43571883	-1	no_errors	ENST00000409746	ensembl	human	known	74_37	missense	SNP	0.170	T	T	43571883	C	T	43571883	3	4	63	1	0	0	0	0	1	0	0	0	12727	623	22	2	111	2	PSTPIP2	18	43571883	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		43571883	34505365	42	3499											
MUC16	94025	genome.wustl.edu	37	chr19	9066039	9066039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtaacatgtctgtggtcGttaccgggctagaggtgaga	15	6	1	2	rs376066548		TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:9066039G>A	ENST00000397910.4	-	3	21610	c.21407C>T	c.(21406-21408)aCg>aTg	p.T7136M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7138	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						GTCTGTGGTCGTTACCGGGCT	0.522																																																	0								ENSG00000181143	T	MET/THR	1,4119		0,1,2059	204	187	193		21407	-5.6	0	19		193	0,8402		0,0,4201	no	missense	MUC16	NM_024690.2	81	0,1,6260	AA,AG,GG		0.0,0.0243,0.0080	probably-damaging	7136/14508	9066039	1,12521	2060	4201	6261	MUC16	SO:0001583	missense	0			-	HGNC	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.21407C>T	19.37:g.9066039G>A	ENSP00000381008:p.Thr7136Met	Somatic	0	272	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	128	127	50.20	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T7136M	ENST00000397910.4	37	c.21407	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.249	-1.007904	0.02112	2.43E-4	0.0	ENSG00000181143	ENST00000397910	T	0.22945	1.93	2.8	-5.6	0.02497	.	.	.	.	.	T	0.16811	0.0404	N	0.12182	0.205	.	.	.	D	0.67145	0.996	P	0.50659	0.647	T	0.43410	-0.9393	8	0.87932	D	0	.	7.0817	0.25235	0.0:0.1914:0.4767:0.3318	.	7136	B5ME49	.	M	7136	ENSP00000381008:T7136M	ENSP00000381008:T7136M	T	-	2	0	MUC16	8927039	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.686000	0.00198	-2.963000	0.00289	-1.974000	0.00461	ACG	-	NULL		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9066039	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9066039	G	A	9066039	3	1	63	1	0	0	0	0	1	0	0	0	9975	1145	40	1	22444	1	MUC16	19	9066039	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09		9066039	50062944	43	3500											
CC2D1A	54862	genome.wustl.edu	37	chr19	14024037	14024037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgcaggagaggctggcGctctatcagacagcaattga	12	10	2	3			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:14024037G>A	ENST00000318003.7	+	5	676	c.435G>A	c.(433-435)gcG>gcA	p.A145A	CC2D1A_ENST00000589606.1_Silent_p.A145A	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	145					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGAGGCTGGCGCTCTATCAGA	0.632																																																	0								ENSG00000132024						19	24	23					19																	14024037		1970	4150	6120	CC2D1A	SO:0001819	synonymous_variant	0			-	HGNC	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.435G>A	19.37:g.14024037G>A		Somatic	0	85	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	58	41.41	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.A145	ENST00000318003.7	37	c.435	CCDS42512.1	19																																																																																			-	smart_DM14		0.632	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	protein_coding	OTTHUMT00000457954.1	G	NM_017721	-		14024037	1	no_errors	ENST00000318003	ensembl	human	known	74_37	silent	SNP	0.098	A	A	14024037	G	A	14024037	2	1	63	1	0	0	0	0	0	0	0	1	2728	1074	38	1		1	CC2D1A	19	14024037	Silent	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	4957998	14024037	45104946	44	3501											
RYR1	6261	genome.wustl.edu	37	chr19	38964203	38964203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggcctgcagccccccGccgaggacgaggcccgggcg	15	19	0	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:38964203G>A	ENST00000359596.3	+	28	3952	c.3952G>A	c.(3952-3954)Gcc>Acc	p.A1318T	RYR1_ENST00000355481.4_Missense_Mutation_p.A1318T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1318T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1318	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)	GCAGCCCCCCGCCGAGGACGA	0.692																																																	0								ENSG00000196218						8	10	9					19																	38964203		2137	4174	6311	RYR1	SO:0001583	missense	0			-	HGNC	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.3952G>A	19.37:g.38964203G>A	ENSP00000352608:p.Ala1318Thr	Somatic	0	85	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	160	24.06	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.A1318T	ENST00000359596.3	37	c.3952	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	9.299	1.052715	0.19907	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96685	-4.09;-4.09;-4.09	5.07	1.52	0.23074	.	.	.	.	.	D	0.92469	0.7609	N	0.22421	0.69	0.09310	N	1	D;D	0.63046	0.992;0.976	P;B	0.47744	0.556;0.253	D	0.84994	0.0896	9	0.20519	T	0.43	.	10.7368	0.46130	0.0:0.0:0.4954:0.5046	.	1318;1318	P21817-2;P21817	.;RYR1_HUMAN	T	1318	ENSP00000352608:A1318T;ENSP00000347667:A1318T;ENSP00000354254:A1318T	ENSP00000347667:A1318T	A	+	1	0	RYR1	43656043	0.788000	0.28762	0.013000	0.15412	0.087000	0.18053	2.515000	0.45512	0.118000	0.18165	-0.521000	0.04368	GCC	-	NULL		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		38964203	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	0.013	A	A	38964203	G	A	38964203	3	1	63	1	0	0	0	0	1	0	0	0	13776	1087	38	1	4062	1	RYR1	19	38964203	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	24940166	38964203	20164780	45	3502											
FCGBP	8857	genome.wustl.edu	37	chr19	40421292	40421292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagtcgaagcgccggcCgtcgaagctcacatagtgtg	13	11	1	1	rs549995848		TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:40421292C>T	ENST00000221347.6	-	5	2636	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	877	VWFD 2. {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)			AAGCGCCGGCCGTCGAAGCTC	0.672													C|||	1	0.000199681	0	0	5008	,	,		13712	0		0	False		,,,				2504	0.001																0								ENSG00000090920						28	28	28					19																	40421292		2202	4300	6502	FCGBP	SO:0001583	missense	0			-	HGNC	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.2629G>A	19.37:g.40421292C>T	ENSP00000221347:p.Gly877Ser	Somatic	0	173	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	86	335	20.38	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G877S	ENST00000221347.6	37	c.2629	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577743	0.86645	.	.	ENSG00000090920	ENST00000221347	T	0.70045	-0.45	4.59	3.54	0.40534	von Willebrand factor, type D domain (3);	0.247257	0.32518	N	0.005991	T	0.79947	0.4534	M	0.81802	2.56	0.32766	N	0.504401	D	0.76494	0.999	D	0.73708	0.981	D	0.84574	0.0657	10	0.66056	D	0.02	.	11.3155	0.49390	0.0:0.9077:0.0:0.0923	.	877	Q9Y6R7	FCGBP_HUMAN	S	877	ENSP00000221347:G877S	ENSP00000221347:G877S	G	-	1	0	FCGBP	45113132	0.002000	0.14202	0.989000	0.46669	0.994000	0.84299	0.870000	0.28010	2.275000	0.75901	0.491000	0.48974	GGC	-	pfam_VWF_type-D,smart_VWF_type-D		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890	-		40421292	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.865	T	T	40421292	C	T	40421292	3	4	63	1	0	0	0	0	1	0	0	0	5780	652	23	1	13716	1	FCGBP	19	40421292	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	1457089	40421292	18707691	46	3503											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	63	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-DX-A48R-01A-11D-A307-09	752601	41173893	17955090	47	3504											
CCDC61	729440	genome.wustl.edu	37	chr19	46498369	46498369	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacccggctctcccttccaGgccctccccaccacgtgggc	8	22	1	0			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:46498369G>T	ENST00000595358.1	+	0	0				CCDC61_ENST00000263284.2_Missense_Mutation_p.G11C|CCDC61_ENST00000536603.1_5'Flank	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61							centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTCCCTTCCAGGCCCTCCCCA	0.617																																																	0								ENSG00000104983						17	17	17					19																	46498369		1908	4114	6022	CCDC61	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488		19.37:g.46498369G>T	Exception_encountered	Somatic	1	104	0.95		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	118	26.71	C8CAP4|Q9HDB6	Missense_Mutation	SNP							NULL	p.G11C	ENST00000595358.1	37	c.31	CCDS46120.2	19	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875105	0.51695	.	.	ENSG00000104983	ENST00000263284	.	.	.	4.16	-8.33	0.00992	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.52335	-0.8589	5	0.87932	D	0	.	7.8607	0.29507	0.5163:0.3076:0.1761:0.0	.	.	.	.	C	11	.	ENSP00000263284:G11C	G	+	1	0	CCDC61	51190209	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.117000	0.03283	-2.402000	0.00577	0.460000	0.39030	GGC	-	NULL		0.617	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	protein_coding	OTTHUMT00000461689.1	G	NM_001080402	-		46498369	1	no_errors	ENST00000263284	ensembl	human	known	74_37	missense	SNP	0.000	T	T	46498369	G	T	46498369	1	4	63	0	1	0	0	0	0	0	0	0	2834	1000	35	3		3	CCDC61	19	46498369	5'Flank	SNP	G	TCGA-DX-A48R-01A-11D-A307-09	5324476	46498369	12630614	48	3505											
AP2A1	160	genome.wustl.edu	37	chr19	50308789	50308789	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtgctcaatatcgagtgCctgcgggacttcctgacgcc	12	13	1	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:50308789C>A	ENST00000359032.5	+	20	2490	c.2490C>A	c.(2488-2490)tgC>tgA	p.C830*	AP2A1_ENST00000354293.5_Nonsense_Mutation_p.C808*	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	830					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.C830C(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATATCGAGTGCCTGCGGGACT	0.726																																																	2	Substitution - coding silent(2)	endometrium(2)						ENSG00000196961						9	12	11					19																	50308789		2044	4150	6194	AP2A1	SO:0001587	stop_gained	0			-	HGNC	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2490C>A	19.37:g.50308789C>A	ENSP00000351926:p.Cys830*	Somatic	0	60	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	40	53.49	Q96CI7|Q96PP6|Q96PP7|Q9H070	Nonsense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.C808*	ENST00000359032.5	37	c.2424	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	t	41	8.947075	0.99012	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	.	.	.	5.94	1.39	0.22231	.	0.091015	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2361	0.20764	0.1407:0.4512:0.0:0.4081	.	.	.	.	X	808;830	.	ENSP00000346246:C808X	C	+	3	2	AP2A1	55000601	0.001000	0.12720	0.997000	0.53966	0.991000	0.79684	-0.380000	0.07427	-0.049000	0.13379	-0.264000	0.10439	TGC	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.726	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	protein_coding	OTTHUMT00000465809.1	C		-		50308789	1	no_errors	ENST00000354293	ensembl	human	known	74_37	nonsense	SNP	0.988	A	A	50308789	C	A	50308789	4	1	63	1	0	0	0	0	0	1	0	0	739	747	26	3	2568	3	AP2A1	19	50308789	Nonsense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	3810420	50308789	8820194	49	3506											
LENG8	114823	genome.wustl.edu	37	chr19	54965619	54965619	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcagcccccagtccCcggcatggatgagagcatgt	11	15	1	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr19:54965619C>G	ENST00000326764.5	+	6	916	c.437C>G	c.(436-438)cCc>cGc	p.P146R	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCCCAGTCCCCGGCATGGAT	0.672																																																	0								ENSG00000167615						38	42	41					19																	54965619		2203	4300	6503	LENG8	SO:0001583	missense	0			-	HGNC	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.437C>G	19.37:g.54965619C>G	ENSP00000318374:p.Pro146Arg	Somatic	0	128	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	61	47.01	B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP							pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.P146R	ENST00000326764.5	37	c.437	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792774	0.70452	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.59502	1.27;0.26;1.36;1.18	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.976	T	0.75631	-0.3251	10	0.87932	D	0	-24.7505	16.3144	0.82913	0.0:1.0:0.0:0.0	.	146;109	Q96PV6-2;F8W9Q9	.;.	R	146;109;146;109;146	ENSP00000318374:P146R;ENSP00000399507:P146R;ENSP00000365709:P109R;ENSP00000388053:P146R	ENSP00000301196:P109R	P	+	2	0	LENG8	59657431	0.990000	0.36364	0.972000	0.41901	0.466000	0.32739	4.038000	0.57318	2.525000	0.85131	0.655000	0.94253	CCC	-	NULL		0.672	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	protein_coding	OTTHUMT00000140523.2	C	NM_052925	-		54965619	1	no_errors	ENST00000326764	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54965619	C	G	54965619	3	3	63	1	0	0	0	0	1	0	0	0	8726	623	22	4	455	4	LENG8	19	54965619	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	4656830	54965619	4163364	50	3507											
JAG1	182	genome.wustl.edu	37	chr20	10625904	10625904	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcacactgactgtcaCctggaggaaaatatttcagt	7	11	4	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr20:10625904C>G	ENST00000254958.5	-	17	2629	c.2114G>C	c.(2113-2115)cGt>cCt	p.R705P	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Splice_Site_p.R546P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	705	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTGACTGTCACCTGGAGGAAA	0.547									Alagille Syndrome																																								0								ENSG00000101384						112	97	102					20																	10625904		2203	4300	6503	JAG1	SO:0001630	splice_region_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2114-1G>C	20.37:g.10625904C>G		Somatic	0	103	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	56	40.00	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.R705P	ENST00000254958.5	37	c.2114	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554516	0.86231	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87491	-2.26;-2.26	5.52	5.52	0.82312	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87402	0.6168	M	0.69823	2.125	0.80722	D	1	P	0.42785	0.79	B	0.38327	0.271	D	0.89121	0.3503	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	705	P78504	JAG1_HUMAN	P	705;546	ENSP00000254958:R705P;ENSP00000389519:R546P	ENSP00000254958:R705P	R	-	2	0	JAG1	10573904	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.595000	0.87683	0.655000	0.94253	CGT	-	pfscan_EG-like_dom		0.547	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		C	NM_000214	-	Missense_Mutation	10625904	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10625904	C	G	10625904	5	3	63	1	0	0	0	0	0	0	1	0	7936	521	18	4	1582	4	JAG1	20	10625904	Splice_Site	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		10625904	52399616	51	3508											
ACSS2	55902	genome.wustl.edu	37	chr20	33464462	33464462	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacgtgatggggcttcctgAggagcgggtccggagcggca	19	9	0	3			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr20:33464462A>T	ENST00000360596.2	+	1	225	c.14A>T	c.(13-15)gAg>gTg	p.E5V	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_Missense_Mutation_p.E5V|ACSS2_ENST00000336325.4_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	5					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCTTCCTGAGGAGCGGGTC	0.721																																																	0								ENSG00000131069						3	5	4					20																	33464462		1887	3967	5854	ACSS2	SO:0001583	missense	0			-	HGNC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.14A>T	20.37:g.33464462A>T	ENSP00000353804:p.Glu5Val	Somatic	0	19	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	30.77	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.E5V	ENST00000360596.2	37	c.14	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795865	0.70452	.	.	ENSG00000131069	ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.87	4.87	0.63330	.	1.306700	0.04863	N	0.444566	T	0.50051	0.1593	N	0.08118	0	0.80722	D	1	B;D;B	0.63880	0.267;0.993;0.267	B;D;B	0.72338	0.039;0.977;0.026	T	0.47861	-0.9084	10	0.87932	D	0	-19.8159	7.1533	0.25622	0.9018:0.0:0.0982:0.0	.	5;5;5	Q5QPH3;B4DEH9;Q9NR19	.;.;ACSA_HUMAN	V	5	ENSP00000353804:E5V;ENSP00000419167:E5V;ENSP00000418812:E5V;ENSP00000419925:E5V;ENSP00000253382:E5V	ENSP00000253382:E5V	E	+	2	0	ACSS2	32928123	1.000000	0.71417	0.998000	0.56505	0.500000	0.33767	2.382000	0.44345	2.051000	0.60960	0.379000	0.24179	GAG	-	NULL		0.721	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	protein_coding	OTTHUMT00000078823.3	A	NM_018677	-		33464462	1	no_errors	ENST00000253382	ensembl	human	known	74_37	missense	SNP	0.996	T	T	33464462	A	T	33464462	3	4	63	1	0	0	0	0	1	0	0	0	189	304	11	5	16	5	ACSS2	20	33464462	Missense_Mutation	SNP	A	TCGA-DX-A48R-01A-11D-A307-09	22838558	33464462	29561058	52	3509											
HNF4A	3172	genome.wustl.edu	37	chr20	43030126	43030126	+	Splice_Site	DEL	T	T	-													caggtgttgacgatgggcaaTggtaggtgggggcagatgtg							TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr20:43030126delT	ENST00000316099.4	+	1	203	c.114delT	c.(112-114)aat>aa	p.N38fs	HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Splice_Site_p.N38fs|HNF4A_ENST00000415691.2_Splice_Site_p.N38fs|HNF4A_ENST00000609795.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	38					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGATGGGCAATGGTAGGTGGG	0.582																																					Colon(79;2 1269 8820 14841 52347)												0								ENSG00000101076						121	93	102					20																	43030126		2203	4300	6503	HNF4A	SO:0001630	splice_region_variant	0				HGNC	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.115+1T>-	20.37:g.43030126delT		Somatic	0	138	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	81	39.55	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Frame_Shift_Del	DEL							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.N38fs	ENST00000316099.4	37	c.114	CCDS13330.1	20																																																																																			-	NULL		0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	protein_coding	OTTHUMT00000079363.3	T			Frame_Shift_Del	43030126	1	no_errors	ENST00000316099	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	43030126	T	-	43030126	8	5	63	1	0	1	0	1	0	0	1	0	7255	1478	51	0	169	0	HNF4A	20	43030126	Splice_Site	DEL	T	TCGA-DX-A48R-01A-11D-A307-09	9565664	43030126	19995394	53	3510											
HUNK	30811	genome.wustl.edu	37	chr21	33371084	33371084	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagaagtgctgtctccctctCatcactacaggattctgaac	7	12	4	2	rs553993228		TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr21:33371084C>T	ENST00000270112.2	+	11	2092	c.1732C>T	c.(1732-1734)Cat>Tat	p.H578Y		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	578					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCTCCCTCTCATCACTACAG	0.597													C|||	1	0.000199681	0	0	5008	,	,		17030	0		0.001	False		,,,				2504	0																0								ENSG00000142149						75	57	63					21																	33371084		2203	4300	6503	HUNK	SO:0001583	missense	0			-	HGNC	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1732C>T	21.37:g.33371084C>T	ENSP00000270112:p.His578Tyr	Somatic	0	91	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	35	48.53		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H578Y	ENST00000270112.2	37	c.1732	CCDS13610.1	21	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603284	0.66445	.	.	ENSG00000142149	ENST00000270112	T	0.70516	-0.49	4.39	3.5	0.40072	.	0.285398	0.32970	N	0.005425	T	0.74696	0.3750	L	0.29908	0.895	0.45035	D	0.998058	D	0.63880	0.993	D	0.70227	0.968	T	0.76061	-0.3097	10	0.51188	T	0.08	-10.4332	14.3929	0.66991	0.0:0.8513:0.1486:0.0	.	578	P57058	HUNK_HUMAN	Y	578	ENSP00000270112:H578Y	ENSP00000270112:H578Y	H	+	1	0	HUNK	32292955	0.928000	0.31464	0.036000	0.18154	0.959000	0.62525	2.482000	0.45224	1.042000	0.40150	0.491000	0.48974	CAT	-	NULL		0.597	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	protein_coding	OTTHUMT00000192782.1	C	NM_014586	-		33371084	1	no_errors	ENST00000270112	ensembl	human	known	74_37	missense	SNP	0.960	T	T	33371084	C	T	33371084	3	4	63	1	0	0	0	0	1	0	0	0	7460	826	29	2	1774	2	HUNK	21	33371084	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09		33371084	14758811	54	3511											
RIPK4	54101	genome.wustl.edu	37	chr21	43161030	43161030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgcaggagcgtggcggCggggccatggccgccctgga	19	14	0	0	rs142879262		TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chr21:43161030C>T	ENST00000352483.2	-	9	2531	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T	RIPK4_ENST00000332512.3_Missense_Mutation_p.A775T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A712T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A712T|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	823					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCGTGGCGGCGGGGCCATGG	0.692													C|||	1	0.000199681	0	0	5008	,	,		15403	0		0	False		,,,				2504	0.001																0								ENSG00000183421	C	THR/ALA	6,4356		0,6,2175	25	27	26		2323	-4.4	0	21	dbSNP_134	26	1,8487		0,1,4243	yes	missense	RIPK4	NM_020639.2	58	0,7,6418	TT,TC,CC		0.0118,0.1376,0.0545	benign	775/785	43161030	7,12843	2181	4244	6425	RIPK4	SO:0001583	missense	0			-	HGNC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2467G>A	21.37:g.43161030C>T	ENSP00000330161:p.Ala823Thr	Somatic	0	150	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	75	44.93	Q96KH0	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A823T	ENST00000352483.2	37	c.2467		21	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687389	0.00738	0.001376	1.18E-4	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.78003	-0.91;-0.92;-1.14;-1.14	4.8	-4.37	0.03633	.	1.578550	0.04134	N	0.318462	T	0.55257	0.1909	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36553	-0.9743	10	0.25751	T	0.34	-0.5906	5.2425	0.15479	0.0899:0.497:0.0888:0.3243	.	775	P57078-2	.	T	775;823;712;712	ENSP00000332454:A775T;ENSP00000330161:A823T;ENSP00000441754:A712T;ENSP00000442901:A712T	ENSP00000332454:A775T	A	-	1	0	RIPK4	42034099	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.516000	0.00954	-1.266000	0.02446	-2.151000	0.00333	GCC	-	NULL		0.692	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	protein_coding		C	NM_020639	rs142879262		43161030	-1	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43161030	C	T	43161030	3	4	63	1	0	0	0	0	1	0	0	0	13391	768	27	1	35	1	RIPK4	21	43161030	Missense_Mutation	SNP	C	TCGA-DX-A48R-01A-11D-A307-09	9789946	43161030	4968865	55	3512											
PAK3	5063	genome.wustl.edu	37	chrX	110390987	110390987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattccagagcaatgggcacGattactccaaacttccaaca	6	12	0	1			TCGA-DX-A48R-01A-11D-A307-09	TCGA-DX-A48R-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bcb1b5-568d-4ec4-99a2-5401f231aae8	ab74d2ac-412f-4c3a-988e-920595b8fcc1	g.chrX:110390987G>A	ENST00000372010.1	+	8	786	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	PAK3_ENST00000518291.1_Missense_Mutation_p.R136Q|PAK3_ENST00000372007.5_Missense_Mutation_p.R100Q|PAK3_ENST00000446737.1_Missense_Mutation_p.R100Q|PAK3_ENST00000417227.1_Missense_Mutation_p.R121Q|PAK3_ENST00000425146.1_Missense_Mutation_p.R100Q|PAK3_ENST00000519681.1_Missense_Mutation_p.R121Q|PAK3_ENST00000360648.4_Missense_Mutation_p.R136Q|PAK3_ENST00000262836.4_Missense_Mutation_p.R115Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	115	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.|Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAATGGGCACGATTACTCCAA	0.398										TSP Lung(19;0.15)																																							0								ENSG00000077264						119	104	109					X																	110390987		2203	4300	6503	PAK3	SO:0001583	missense	0			-	HGNC	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.344G>A	X.37:g.110390987G>A	ENSP00000361080:p.Arg115Gln	Somatic	0	45	0		0.75684357870043				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	3	92.68	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.R136Q	ENST00000372010.1	37	c.407	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371646	0.61624	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.74	5.74	0.90152	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	L	0.52759	1.655	0.58432	D	0.999999	P;P;P;P	0.47191	0.891;0.891;0.552;0.497	B;B;B;B	0.42625	0.342;0.301;0.393;0.273	D	0.84998	0.0898	10	0.49607	T	0.09	.	18.9393	0.92598	0.0:0.0:1.0:0.0	.	121;136;115;100	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	Q	100;100;115;121;100;136;136;136;121;115	ENSP00000410853:R100Q;ENSP00000401982:R100Q;ENSP00000361080:R115Q;ENSP00000429113:R121Q;ENSP00000361077:R100Q;ENSP00000428921:R136Q;ENSP00000405642:R136Q;ENSP00000353864:R136Q;ENSP00000389172:R121Q;ENSP00000262836:R115Q	ENSP00000262836:R115Q	R	+	2	0	PAK3	110277643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.421000	0.82119	0.538000	0.68166	CGA	-	pfam_CRIB_dom		0.398	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	protein_coding	OTTHUMT00000057918.1	G	NM_002578	-		110390987	1	no_errors	ENST00000360648	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110390987	G	A	110390987	3	1	63	1	0	0	0	0	1	0	0	0	11404	1058	37	1	425	1	PAK3	23	110390987	Missense_Mutation	SNP	G	TCGA-DX-A48R-01A-11D-A307-09		110390987	44879573	56	3513											
UBXN11	91544	genome.wustl.edu	37	chr1	26608812	26608889	+	In_Frame_Del	DEL	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	-													attgggggctgggactgggtCcaggacagggactggggccg					rs66614970|rs201454352|rs61775089|rs61775088|rs140364749|rs61775085|rs61775084|rs61775087|rs61775086|rs6667693|rs6672357|rs376181141|rs568953708|rs200313935|rs554923047|rs202134609|rs537852372|rs1134582|rs188535926|rs201756933|rs199707978|rs373828796|rs12354016|rs202239787|rs151149897|rs193142354|rs1134583|rs1134580|rs1134581|rs1134584	byFrequency	TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr1:26608812_26608889delCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	ENST00000374222.1	-	16	1928_2005	c.1464_1541delTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	c.(1462-1542)ggtcccggtcccggccccagtcccggtcccggtcccggccccagtcccggtcccggtcccggccccagtccctgtcctgga>gga	p.488_514GPGPGPSPGPGPGPSPGPGPGPSPCPG>G	UBXN11_ENST00000374217.2_In_Frame_Del_p.455_481GPGPGPSPGPGPGPSPGPGPGPSPCPG>G|UBXN11_ENST00000374221.3_In_Frame_Del_p.488_514GPGPGPSPGPGPGPSPGPGPGPSPCPG>G|UBXN11_ENST00000374223.1_In_Frame_Del_p.245_271GPGPGPSPGPGPGPSPGPGPGPSPCPG>G|UBXN11_ENST00000314675.7_In_Frame_Del_p.368_394GPGPGPSPGPGPGPSPGPGPGPSPCPG>G|UBXN11_ENST00000357089.4_In_Frame_Del_p.455_481GPGPGPSPGPGPGPSPGPGPGPSPCPG>G			Q5T124	UBX11_HUMAN	UBX domain protein 11	488	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.|P -> S (in dbSNP:rs17838088).|P -> S (in dbSNP:rs17838088). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactgggtccaggacagggactggggccgggaccgggaccgggactggggccgggaccgggaccgggactggggccgggaccgggaccgggacagg	0.712																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	upper_aerodigestive_tract(1)|ovary(1)						ENSG00000158062																																			UBXN11	SO:0001651	inframe_deletion	0				HGNC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1464_1541delTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCTGTCCTGG	1.37:g.26608812_26608889delCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	ENSP00000363339:p.Gly488_Pro513del	Somatic					0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Del	DEL							pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.GPGPSPGPGPGPSPGPGPGPSPCPGP490in_frame_del	ENST00000374222.1	37	c.1541_1464	CCDS41288.1	1																																																																																			-	NULL		0.712	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	protein_coding	OTTHUMT00000009500.1	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	NM_145345			26608889	-1	no_errors	ENST00000374221	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.001:0.001:0.001:0.001:0.001:0.002:0.002:0.128:0.145:0.146:0.148:0.148:0.149:0.149:0.149:0.149:0.149:0.148:0.141:0.128:0.126:0.131:0.132:0.128:0.134:0.156:0.169:0.174:0.173:0.168:0.156:0.134:0.097:0.084:0.080:0.075:0.071:0.065:0.060:0.054:0.049:0.042:0.024:0.015:0.010:0.006:0.004:0.004:0.008:0.005:0.003:0.002:0.004:0.007:0.010:0.014:0.019:0.018:0.000:0.000:0.000:0.001:0.002:0.005:0.007:0.007:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.025:0.015:0.007:0.001	-	-	26608889	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	-	26608812	7	5	64	1	0	1	0	1	0	0	0	0	16920	855	30	0	25	0	UBXN11	1	26608812	In_Frame_Del	DEL	CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA	TCGA-DX-A48U-01A-11D-A307-09		26608812	222641809	1	3514											
PABPC4	8761	genome.wustl.edu	37	chr1	40041576	40041576	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgacgtccgaatgcaggtcGcccacgtacagggaggccat	14	12	0	1			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr1:40041576G>T	ENST00000372857.3	-	1	840	c.48C>A	c.(46-48)ggC>ggA	p.G16G	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Silent_p.G16G|PABPC4_ENST00000372856.3_Silent_p.G16G|PABPC4_ENST00000372858.3_Silent_p.G16G	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	16	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATGCAGGTCGCCCACGTACA	0.677																																																	0								ENSG00000090621																																			PABPC4	SO:0001819	synonymous_variant	0			-	HGNC	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.48C>A	1.37:g.40041576G>T		Somatic	0	98	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	229	13.21	B1ANQ8|Q4VC03|Q6P0N3	Silent	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G16	ENST00000372857.3	37	c.48	CCDS438.1	1																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.677	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	protein_coding	OTTHUMT00000025220.1	G	NM_001135653	-		40041576	-1	no_errors	ENST00000372858	ensembl	human	known	74_37	silent	SNP	0.957	T	T	40041576	G	T	40041576	2	4	64	1	0	0	0	0	0	0	0	1	11368	1074	38	3		3	PABPC4	1	40041576	Silent	SNP	G	TCGA-DX-A48U-01A-11D-A307-09	13432764	40041576	209209045	2	3515											
KHK	3795	genome.wustl.edu	37	chr2	27322146	27322146	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgtatggtcgtgtgaGgaaagggtgagccggggaag	21	4	0	2			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr2:27322146G>C	ENST00000260599.6	+	6	1160	c.647G>C	c.(646-648)aGg>aCg	p.R216T	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.R216T|CGREF1_ENST00000402550.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	216					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCGTGTGAGGAAAGGGTGA	0.597																																																	0								ENSG00000138030						82	84	84					2																	27322146		2203	4300	6503	KHK	SO:0001583	missense	0			-	HGNC		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.647G>C	2.37:g.27322146G>C	ENSP00000260599:p.Arg216Thr	Somatic	0	104	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	111	17.78	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP							pfam_PfkB_dom	p.R216T	ENST00000260599.6	37	c.647	CCDS1734.1	2	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347444	0.41599	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.75704	-0.96;-0.96;-0.13	5.34	4.2	0.49525	Carbohydrate/purine kinase (1);	0.187786	0.56097	D	0.000032	T	0.71904	0.3395	L	0.53561	1.675	0.80722	D	1	B;P;B;P	0.41643	0.053;0.758;0.011;0.758	B;P;B;P	0.45558	0.052;0.485;0.007;0.485	T	0.68868	-0.5295	10	0.39692	T	0.17	-24.1695	9.5896	0.39537	0.133:0.0:0.867:0.0	.	216;216;216;216	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	T	216;216;261	ENSP00000260599:R216T;ENSP00000260598:R216T;ENSP00000404741:R261T	ENSP00000260598:R216T	R	+	2	0	KHK	27175650	1.000000	0.71417	0.997000	0.53966	0.590000	0.36582	3.684000	0.54671	0.891000	0.36235	0.462000	0.41574	AGG	-	pfam_PfkB_dom		0.597	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	protein_coding	OTTHUMT00000214196.1	G		-		27322146	1	no_errors	ENST00000260598	ensembl	human	known	74_37	missense	SNP	1.000	C	C	27322146	G	C	27322146	3	2	64	1	0	0	0	0	1	0	0	0	8151	1000	35	4	808	4	KHK	2	27322146	Missense_Mutation	SNP	G	TCGA-DX-A48U-01A-11D-A307-09		27322146	215877227	3	3516											
ERBB4	2066	genome.wustl.edu	37	chr2	212295769	212295769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttggagatttcactaagacAttacgggctgccaaatcccg	9	10	1	2			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr2:212295769A>T	ENST00000342788.4	-	21	2854	c.2544T>A	c.(2542-2544)aaT>aaA	p.N848K	ERBB4_ENST00000436443.1_Missense_Mutation_p.N848K|ERBB4_ENST00000402597.1_Missense_Mutation_p.N838K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCACTAAGACATTACGGGCTG	0.418										TSP Lung(8;0.080)																																							0								ENSG00000178568						141	136	138					2																	212295769		2203	4300	6503	ERBB4	SO:0001583	missense	0			-	HGNC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2544T>A	2.37:g.212295769A>T	ENSP00000342235:p.Asn848Lys	Somatic	0	70	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	60	48.72	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N848K	ENST00000342788.4	37	c.2544	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638120	0.67130	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.86297	-2.1;-2.1;-2.1	5.04	1.32	0.21799	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95223	0.8451	H	0.98407	4.225	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.93279	0.6658	10	0.87932	D	0	.	8.9189	0.35599	0.7827:0.0:0.2173:0.0	.	838;838;848;848	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	848;848;838	ENSP00000342235:N848K;ENSP00000403204:N848K;ENSP00000385565:N838K	ENSP00000342235:N848K	N	-	3	2	ERBB4	212004014	0.997000	0.39634	0.994000	0.49952	0.935000	0.57460	0.627000	0.24506	0.039000	0.15632	0.460000	0.39030	AAT	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	protein_coding	OTTHUMT00000256597.1	A	NM_001042599	-		212295769	-1	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	SNP	1.000	T	T	212295769	A	T	212295769	3	4	64	1	0	0	0	0	1	0	0	0	5211	214	8	5	1414	5	ERBB4	2	212295769	Missense_Mutation	SNP	A	TCGA-DX-A48U-01A-11D-A307-09	184973623	212295769	30903604	4	3517											
SLC7A14	57709	genome.wustl.edu	37	chr3	170216674	170216674	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgattcttcacctttccCtagagaggaaagacatgatt	8	8	2	4			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr3:170216674C>T	ENST00000231706.5	-	4	857		c.e4-1		CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14						negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCACCTTTCCCTAGAGAGGAA	0.493																																																	0								ENSG00000013293						85	70	75					3																	170216674		2203	4300	6503	SLC7A14	SO:0001630	splice_region_variant	0			-	HGNC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.542-1G>A	3.37:g.170216674C>T		Somatic	0	46	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	25	51.92	B3KV33|Q9HCF9	Splice_Site	SNP							-	e3-1	ENST00000231706.5	37	c.542-1	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758208	0.89843	.	.	ENSG00000013293	ENST00000231706	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A14	171699368	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.466000	0.80914	2.730000	0.93505	0.655000	0.94253	.	-	-		0.493	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	C	NM_020949	-	Intron	170216674	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	170216674	C	T	170216674	5	4	64	1	0	0	0	0	0	0	1	0	14704	695	24	2	1794	2	SLC7A14	3	170216674	Splice_Site	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		170216674	27805756	5	3518											
C4orf3	401152	genome.wustl.edu	37	chr4	120221759	120221759	+	5'UTR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcccggactttggtgttcgCcgcaccggaaactgagcgga	13	12	0	1			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr4:120221759C>G	ENST00000504110.1	-	0	317				C4orf3_ENST00000399075.4_Missense_Mutation_p.A111P	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						TTGGTGTTCGCCGCACCGGAA	0.627																																																	0								ENSG00000164096						67	68	68					4																	120221759		692	1591	2283	C4orf3	SO:0001623	5_prime_UTR_variant	0			-	HGNC		CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"HCV F-transactivated protein 1"						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-69G>C	4.37:g.120221759C>G		Somatic	0	39	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	43	41.10	Q6J203	Missense_Mutation	SNP							NULL	p.A111P	ENST00000504110.1	37	c.331	CCDS43266.1	4	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088691	0.36855	.	.	ENSG00000164096	ENST00000399075	T	0.38240	1.15	4.14	2.38	0.29361	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.33803	-0.9854	5	0.24483	T	0.36	.	6.7666	0.23571	0.0:0.5566:0.3437:0.0997	.	.	.	.	P	111	ENSP00000382026:A111P	ENSP00000382026:A111P	A	-	1	0	C4orf3	120441207	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.467000	0.22035	0.466000	0.27193	-0.122000	0.15005	GCG	-	NULL		0.627	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	protein_coding	OTTHUMT00000364576.3	C	NM_001001701	-		120221759	-1	no_errors	ENST00000399075	ensembl	human	known	74_37	missense	SNP	0.000	G	G	120221759	C	G	120221759	1	3	64	0	1	0	0	0	0	0	0	0	2262	739	26	4		4	C4orf3	4	120221759	5'UTR	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		120221759	70932517	6	3519											
MSH3	4437	genome.wustl.edu	37	chr5	79950700	79950717	+	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC	-													accaggtggaccctggcgctGcagcggctgcagcggccgca					rs530525176|rs2431220|rs2405875|rs144776112|rs201874762|rs201906899	byFrequency	TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:79950700_79950717delGCAGCGGCTGCAGCGGCC	ENST00000265081.6	+	1	234_251	c.154_171delGCAGCGGCTGCAGCGGCC	c.(154-171)gcagcggctgcagcggccdel	p.AAAAAA52del	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	52	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCTGGCGCTgcagcggctgcagcggccgcagcggccg	0.693								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	1153,2933		197,759,1087					,		0.2		dbSNP_100	12	2199,5723		382,1435,2144	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	579,2194,3231	A1A1,A1R,RR		27.7581,28.2183,27.9147	,	,		3352,8656				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.154_171delGCAGCGGCTGCAGCGGCC	5.37:g.79950700_79950717delGCAGCGGCTGCAGCGGCC	ENSP00000265081:p.Ala52_Ala57del	Somatic					0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAA55in_frame_del	ENST00000265081.6	37	c.154_171	CCDS34195.1	5																																																																																			-	NULL		0.693	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCAGCGGCTGCAGCGGCC	NM_002439			79950717	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-	-	79950717	GCAGCGGCTGCAGCGGCC	-	79950700	7	5	64	1	0	1	0	1	0	0	0	0	9873	1319	46	0	156	0	MSH3	5	79950700	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	TCGA-DX-A48U-01A-11D-A307-09		79950700	100964560	7	3520			1	46		3	2	24	N	GCAGCGGCTGCAGCGGCC_G	1.783116e-05
MSH3	4437	genome.wustl.edu	37	chr5	79950714	79950714	+	Frame_Shift_Del	DEL	G	G	-													ggcgctgcagcggctgcagcGgccgcagcggccgcagcgcc					rs201874762		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:79950714delG	ENST00000265081.6	+	1	248	c.168delG	c.(166-168)gcgfs	p.A62fs	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	62	Poly-Ala.		A -> AAAA. {ECO:0000269|PubMed:8851770}.|Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		cggctgcagcggccgcagcgg	0.687								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318						7	7	7					5																	79950714		2092	4074	6166	MSH3	SO:0001589	frameshift_variant	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.168delG	5.37:g.79950714delG	ENSP00000265081:p.Ala62fs	Somatic	0	25	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.A57fs	ENST00000265081.6	37	c.168	CCDS34195.1	5																																																																																			-	NULL		0.687	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	G	NM_002439			79950714	1	no_errors	ENST00000265081	ensembl	human	known	74_37	frame_shift_del	DEL	0.172	-	-	79950714	G	-	79950714	7	5	64	1	0	1	0	1	0	0	0	0	9873	1103	39	0	170	0	MSH3	5	79950714	Frame_Shift_Del	DEL	G	TCGA-DX-A48U-01A-11D-A307-09	14	79950714	100964546	8	3521	49	2	1	46		3	2	24	N	GCAGCGGCTGCAGCGGCC_G	1.783116e-05
MSH3	4437	genome.wustl.edu	37	chr5	79950723	79950723	+	Frame_Shift_Del	DEL	G	G	-													gcggctgcagcggccgcagcGgccgcagcgcccccagcgcc							TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:79950723delG	ENST00000265081.6	+	1	257	c.177delG	c.(175-177)gcgfs	p.A62fs	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	62	Poly-Ala.		A -> AAAA. {ECO:0000269|PubMed:8851770}.|Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		cggccgcagcggccgcagcgC	0.706								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318						5	6	6					5																	79950723		2054	3996	6050	MSH3	SO:0001589	frameshift_variant	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.177delG	5.37:g.79950723delG	ENSP00000265081:p.Ala62fs	Somatic	0	17	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.A60fs	ENST00000265081.6	37	c.177	CCDS34195.1	5																																																																																			-	NULL		0.706	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	G	NM_002439			79950723	1	no_errors	ENST00000265081	ensembl	human	known	74_37	frame_shift_del	DEL	0.730	-	-	79950723	G	-	79950723	7	5	64	1	0	1	0	1	0	0	0	0	9873	1103	39	0	179	0	MSH3	5	79950723	Frame_Shift_Del	DEL	G	TCGA-DX-A48U-01A-11D-A307-09	9	79950723	100964537	9	3522	49	2	1	46		3	2	24	N	GCAGCGGCTGCAGCGGCC_G	1.783116e-05
FER	2241	genome.wustl.edu	37	chr5	108207846	108207846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgatacttccttactggaaGaaaatgaaaatcttcaggca	7	7	2	3			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:108207846G>C	ENST00000281092.4	+	8	1240	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	FER_ENST00000438717.2_Missense_Mutation_p.E111Q|FER_ENST00000536402.1_Missense_Mutation_p.E286Q	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	286	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTACTGGAAGAAAATGAAAA	0.303																																					Colon(146;1051 1799 9836 27344 47401)												0								ENSG00000151422						65	65	65					5																	108207846		2200	4293	6493	FER	SO:0001583	missense	0			-	HGNC	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.856G>C	5.37:g.108207846G>C	ENSP00000281092:p.Glu286Gln	Somatic	0	33	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	34.48	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP							pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.E286Q	ENST00000281092.4	37	c.856	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847828	0.71603	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	T;T;T	0.75938	-0.95;1.8;-0.98	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.77103	2.36	0.80722	D	1	B	0.21606	0.058	B	0.28011	0.085	T	0.76222	-0.3038	10	0.72032	D	0.01	-14.9168	20.1708	0.98159	0.0:0.0:1.0:0.0	.	286	P16591	FER_HUMAN	Q	286;286;111	ENSP00000281092:E286Q;ENSP00000442627:E286Q;ENSP00000394297:E111Q	ENSP00000281092:E286Q	E	+	1	0	FER	108235745	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.293000	0.96082	2.761000	0.94854	0.655000	0.94253	GAA	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.303	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	protein_coding	OTTHUMT00000250664.1	G	NM_005246	-		108207846	1	no_errors	ENST00000281092	ensembl	human	known	74_37	missense	SNP	1.000	C	C	108207846	G	C	108207846	3	2	64	1	0	0	0	0	1	0	0	0	5815	943	33	4	878	4	FER	5	108207846	Missense_Mutation	SNP	G	TCGA-DX-A48U-01A-11D-A307-09	28257123	108207846	72707414	10	3523											
DOCK2	1794	genome.wustl.edu	37	chr5	169188536	169188536	+	Frame_Shift_Del	DEL	G	G	-													ccctcagccaactcctgtatGagttctacacctgcatccct							TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr5:169188536delG	ENST00000256935.8	+	25	2541	c.2461delG	c.(2461-2463)gagfs	p.E821fs	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.E313fs|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	821					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)			ACTCCTGTATGAGTTCTACAC	0.483																																																	0								ENSG00000134516						199	182	188					5																	169188536		2203	4300	6503	DOCK2	SO:0001589	frameshift_variant	0				HGNC	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.2461delG	5.37:g.169188536delG	ENSP00000256935:p.Glu821fs	Somatic	0	54	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	47	50.00	Q2M3I0|Q96AK7	Frame_Shift_Del	DEL							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.E821fs	ENST00000256935.8	37	c.2461	CCDS4371.1	5																																																																																			-	superfamily_ARM-type_fold		0.483	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	G	NM_004946			169188536	1	no_errors	ENST00000256935	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	169188536	G	-	169188536	7	5	64	1	0	1	0	1	0	0	0	0	4689	1291	45	0	2559	0	DOCK2	5	169188536	Frame_Shift_Del	DEL	G	TCGA-DX-A48U-01A-11D-A307-09	60980690	169188536	11726724	11	3524											
MTHFD1L	25902	genome.wustl.edu	37	chr6	151206811	151206811	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagctggtgcgaggggatgCccatgaatgttttgtttcac	14	7	1	1			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr6:151206811C>G	ENST00000367321.3	+	6	858	c.584C>G	c.(583-585)gCc>gGc	p.A195G	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.A195G	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	195	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CGAGGGGATGCCCATGAATGT	0.408																																																	0								ENSG00000120254						146	149	148					6																	151206811		2203	4300	6503	MTHFD1L	SO:0001583	missense	0			-	HGNC	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.584C>G	6.37:g.151206811C>G	ENSP00000356290:p.Ala195Gly	Somatic	0	81	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	72	46.72	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP							pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.A195G	ENST00000367321.3	37	c.584	CCDS5228.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.151938|2.151938	0.38021|0.38021	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367321;ENST00000367307;ENST00000423867;ENST00000443074;ENST00000425276|ENST00000367308	T;T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36;0.36|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);|.	0.678882|.	0.14953|.	N|.	0.288785|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.17474|0.17474	0.49|0.49	0.32917|0.32917	D|D	0.51528|0.51528	B;B;P|.	0.52692|.	0.425;0.425;0.955|.	B;B;P|.	0.47470|.	0.182;0.182;0.548|.	T|T	0.07233|0.07233	-1.0783|-1.0783	10|5	0.11182|.	T|.	0.66|.	.|.	8.7966|8.7966	0.34883|0.34883	0.0:0.901:0.0:0.099|0.0:0.901:0.0:0.099	.|.	195;195;195|.	B7ZM99;Q6UB35;Q6UB35-2|.	.;C1TM_HUMAN;.|.	G|A	195;195;85;40;39|155	ENSP00000356290:A195G;ENSP00000356276:A195G;ENSP00000400776:A85G;ENSP00000415039:A40G;ENSP00000414412:A39G|.	ENSP00000356276:A195G|.	A|P	+|+	2|1	0|0	MTHFD1L|MTHFD1L	151248504|151248504	0.761000|0.761000	0.28439|0.28439	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	0.739000|0.739000	0.26173|0.26173	2.468000|2.468000	0.83385|0.83385	0.555000|0.555000	0.69702|0.69702	GCC|CCC	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom		0.408	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	protein_coding	OTTHUMT00000042699.1	C	NM_015440	-		151206811	1	no_errors	ENST00000367321	ensembl	human	known	74_37	missense	SNP	1.000	G	G	151206811	C	G	151206811	3	3	64	1	0	0	0	0	1	0	0	0	9930	739	26	4	606	4	MTHFD1L	6	151206811	Missense_Mutation	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		151206811	19908256	12	3525											
RBAK	57786	genome.wustl.edu	37	chr7	5104323	5104323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaatcctactaccgAaagtctactctgattacaca	7	10	2	1			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr7:5104323A>G	ENST00000353796.3	+	6	1560	c.1236A>G	c.(1234-1236)cgA>cgG	p.R412R	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Silent_p.R412R	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	412					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCTACTACCGAAAGTCTACTC	0.458																																																	0								ENSG00000146587						61	59	60					7																	5104323		2203	4300	6503	RBAK	SO:0001819	synonymous_variant	0			-	HGNC	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1236A>G	7.37:g.5104323A>G		Somatic	0	37	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R412	ENST00000353796.3	37	c.1236	CCDS5337.1	7																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	protein_coding	OTTHUMT00000241640.2	A	NM_021163	-		5104323	1	no_errors	ENST00000353796	ensembl	human	known	74_37	silent	SNP	0.009	G	G	5104323	A	G	5104323	2	3	64	1	0	0	0	0	0	0	0	1	13108	233	9	5		5	RBAK	7	5104323	Silent	SNP	A	TCGA-DX-A48U-01A-11D-A307-09		5104323	154034340	13	3526											
ZSCAN21	7589	genome.wustl.edu	37	chr7	99654810	99654810	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgatacccctggaccccgaGaggccctgagccaactccgg	11	16	0	3			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr7:99654810G>T	ENST00000292450.4	+	2	345	c.181G>T	c.(181-183)Gag>Tag	p.E61*	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.E61*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.E61*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	61	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			TGGACCCCGAGAGGCCCTGAG	0.587																																																	0								ENSG00000166529						65	67	67					7																	99654810		2203	4300	6503	ZSCAN21	SO:0001587	stop_gained	0			-	HGNC	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.181G>T	7.37:g.99654810G>T	ENSP00000292450:p.Glu61*	Somatic	0	46	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	50	53.70	A4D2A6|D6W5T9|Q9H0B5	Nonsense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E61*	ENST00000292450.4	37	c.181	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.788103	0.96945	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	.	.	.	4.91	4.91	0.64330	.	0.000000	0.40469	N	0.001090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7845	0.63102	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000292450:E61X	E	+	1	0	ZSCAN21	99492746	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.517000	0.73759	2.721000	0.93114	0.655000	0.94253	GAG	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.587	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	protein_coding	OTTHUMT00000336166.1	G	NM_145914	-		99654810	1	no_errors	ENST00000292450	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	99654810	G	T	99654810	4	4	64	1	0	0	0	0	0	1	0	0	18240	943	33	3	183	3	ZSCAN21	7	99654810	Nonsense_Mutation	SNP	G	TCGA-DX-A48U-01A-11D-A307-09	94550487	99654810	59483853	14	3527											
VPS13B	157680	genome.wustl.edu	37	chr8	100880651	100880651	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcatgggggtgttcacaaagCccatcggaggagctgctgag	15	9	2	1			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr8:100880651C>G	ENST00000358544.2	+	59	11536	c.11425C>G	c.(11425-11427)Ccc>Gcc	p.P3809A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3784A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3809					protein transport (GO:0015031)					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)			GTTCACAAAGCCCATCGGAGG	0.527																																					Colon(161;2205 2542 7338 31318)												0								ENSG00000132549						82	72	76					8																	100880651		2203	4300	6503	VPS13B	SO:0001583	missense	0			-	HGNC	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.11425C>G	8.37:g.100880651C>G	ENSP00000351346:p.Pro3809Ala	Somatic	0	76	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	76	42.42	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.P3809A	ENST00000358544.2	37	c.11425	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937155	0.92458	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.91124	-2.77;-2.79	5.83	5.83	0.93111	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95655	0.8710	10	0.66056	D	0.02	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	3784;3809	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	3784;3809	ENSP00000349685:P3784A;ENSP00000351346:P3809A	ENSP00000349685:P3784A	P	+	1	0	VPS13B	100949827	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	CCC	-	pfam_Autophagy-rel_C		0.527	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	C	NM_184042	-		100880651	1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100880651	C	G	100880651	3	3	64	1	0	0	0	0	1	0	0	0	17197	739	26	4	11849	4	VPS13B	8	100880651	Missense_Mutation	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		100880651	45483371	15	3528											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39178156	39178156	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttcaagtatttttttacctGaattaagaaaaaagacaagc	6	5	1	3			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr9:39178156G>C	ENST00000297668.6	-	5	813	c.740C>G	c.(739-741)tCa>tGa	p.S247*	CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.S159*|CNTNAP3_ENST00000323947.7_Nonsense_Mutation_p.S247*|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.S247*|CNTNAP3_ENST00000377659.1_Nonsense_Mutation_p.S247*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	247	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTTTTACCTGAATTAAGAAA	0.308																																																	0								ENSG00000106714						32	36	35					9																	39178156		2135	4238	6373	CNTNAP3	SO:0001587	stop_gained	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.740C>G	9.37:g.39178156G>C	ENSP00000297668:p.Ser247*	Somatic	0	151	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	117	134	46.61	B1AMA0|Q9C0E9	Nonsense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S247*	ENST00000297668.6	37	c.740	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.871032	0.98537	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1502	0.15005	0.2495:0.0:0.7505:0.0	.	.	.	.	X	247;247;159;247;247;159	.	ENSP00000297668:S247X	S	-	2	0	CNTNAP3	39168156	0.915000	0.31059	0.951000	0.38953	0.976000	0.68499	1.599000	0.36751	1.740000	0.51718	0.563000	0.77884	TCA	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.308	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	G	NM_033655	-		39178156	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	nonsense	SNP	0.967	C	C	39178156	G	C	39178156	4	2	64	1	0	0	0	0	0	1	0	0	3650	1294	45	4	3206	4	CNTNAP3	9	39178156	Nonsense_Mutation	SNP	G	TCGA-DX-A48U-01A-11D-A307-09		39178156	102035275	16	3529											
OR51G1	79324	genome.wustl.edu	37	chr11	4945061	4945061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacatgggagtggcagTattggaagcgcttcaggagg	16	8	1	0			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr11:4945061T>C	ENST00000321961.2	-	1	576	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGTGGCAGTATTGGAAGCG	0.502																																																	0								ENSG00000176879						74	64	68					11																	4945061		2201	4298	6499	OR51G1	SO:0001583	missense	0			-	HGNC	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.509A>G	11.37:g.4945061T>C	ENSP00000322546:p.Tyr170Cys	Somatic	0	60	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	37	48.61	B9EGW8|Q6IFH6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y170C	ENST00000321961.2	37	c.509	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	T	9.389	1.075131	0.20227	.	.	ENSG00000176879	ENST00000321961	T	0.00179	8.61	4.3	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003011	T	0.00552	0.0018	M	0.89414	3.03	0.31224	N	0.697074	D	0.89917	1.0	D	0.87578	0.998	T	0.16600	-1.0397	10	0.66056	D	0.02	.	7.4992	0.27507	0.4815:0.0:0.0:0.5184	.	170	Q8NGK1	O51G1_HUMAN	C	170	ENSP00000322546:Y170C	ENSP00000322546:Y170C	Y	-	2	0	OR51G1	4901637	0.000000	0.05858	0.995000	0.50966	0.057000	0.15508	-0.425000	0.07017	0.646000	0.30693	0.455000	0.32223	TAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	protein_coding	OTTHUMT00000142345.1	T	NM_001005237	-		4945061	-1	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	SNP	0.963	C	C	4945061	T	C	4945061	3	2	64	1	0	0	0	0	1	0	0	0	11100	1638	57	5	458	5	OR51G1	11	4945061	Missense_Mutation	SNP	T	TCGA-DX-A48U-01A-11D-A307-09		4945061	130061455	17	3530											
WNK1	65125	genome.wustl.edu	37	chr12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A													gttggtacgggaggagcaagINSaaaaaaaaaagcaggaagag							TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					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)	p.?(1)		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)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)						ENSG00000060237																																			WNK1	SO:0001589	frameshift_variant	0				HGNC	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.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs	Somatic	0	49	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	71	10.13	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			-	NULL		0.47	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	-	NM_018979			970297	1	no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	970297	-	A	970296	7	5	64	1	0	1	1	0	0	0	0	0	17384	943	33	0	1764	0	WNK1	12	970296	Frame_Shift_Ins	INS	-	TCGA-DX-A48U-01A-11D-A307-09		970296	132881599	18	3531											
MDM2	4193	genome.wustl.edu	37	chr12	69222659	69222659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgtaataagggagaTatgttgtgaaagaagcagta	13	2	1	3			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr12:69222659T>C	ENST00000350057.5	+	6	539	c.539T>C	c.(538-540)aTa>aCa	p.I180T	MDM2_ENST00000360430.2_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.I150T|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.I156T|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.I211T|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393410.1_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000356290.4_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	205	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				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)			ATAAGGGAGATATGTTGTGAA	0.403			A		"sarcoma, glioma, colorectal, other"																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0								ENSG00000135679						180	171	174					12																	69222659		1914	4119	6033	MDM2	SO:0001583	missense	0			-	HGNC		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.539T>C	12.37:g.69222659T>C	ENSP00000266624:p.Ile180Thr	Somatic	0	32	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	30	46.43	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP							pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.I211T	ENST00000350057.5	37	c.632		12	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742579	0.49151	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.46819	1.5;0.86;0.86;0.87;1.51	4.64	4.64	0.57946	SWIB/MDM2 domain (1);	0.328417	0.32624	N	0.005860	T	0.41534	0.1163	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.40875	0.731;0.501;0.547;0.682	B;B;B;B	0.39531	0.302;0.118;0.302;0.221	T	0.30387	-0.9980	9	.	.	.	-16.4192	14.7829	0.69779	0.0:0.0:0.0:1.0	.	160;205;156;211	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	T	211;160;150;205;166;156;205;205;180	ENSP00000417281:I211T;ENSP00000258149:I150T;ENSP00000258148:I156T;ENSP00000444430:I205T;ENSP00000266624:I180T	.	I	+	2	0	MDM2	67508926	1.000000	0.71417	0.946000	0.38457	0.919000	0.55068	5.444000	0.66587	2.052000	0.61016	0.383000	0.25322	ATA	-	superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4		0.403	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	protein_coding	OTTHUMT00000402665.1	T	NM_006880	-		69222659	1	no_errors	ENST00000462284	ensembl	human	known	74_37	missense	SNP	0.919	C	C	69222659	T	C	69222659	3	2	64	1	0	0	0	0	1	0	0	0	9415	1406	49	5	662	5	MDM2	12	69222659	Missense_Mutation	SNP	T	TCGA-DX-A48U-01A-11D-A307-09	68252363	69222659	64629236	19	3532											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr17:7578406C>A	ENST00000269305.4	-	5	713	c.524G>T	c.(523-525)cGc>cTc	p.R175L	TP53_ENST00000359597.4_Missense_Mutation_p.R175L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175L|TP53_ENST00000420246.2_Missense_Mutation_p.R175L|TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000445888.2_Missense_Mutation_p.R175L	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	ENSG00000141510						50	50	50					17																	7578406		2203	4300	6503	TP53	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;	-	HGNC	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.524G>T	17.37:g.7578406C>A	ENSP00000269305:p.Arg175Leu	Somatic	0	43	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	6	87.50	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175L	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.433431	0.96150	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99888	-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54	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);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.985;1.0;1.0;0.988;0.894;1.0	D;D;D;D;D;P;D	0.97110	1.0;0.921;0.999;0.999;0.923;0.847;0.999	D	0.96278	0.9204	10	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175L;ENSP00000352610:R175L;ENSP00000269305:R175L;ENSP00000398846:R175L;ENSP00000391127:R175L;ENSP00000391478:R175L;ENSP00000425104:R43L;ENSP00000423862:R82L	ENSP00000269305:R175L	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578406	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7578406	C	A	7578406	3	1	64	1	0	0	0	0	1	0	0	0	16388	768	27	3	774	3	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		7578406	73616804	20	3533											
METTL2A	339175	genome.wustl.edu	37	chr17	60503814	60503814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactggttcttggagaaCaagagtgaagtacctgaatg	13	5	1	4			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr17:60503814C>T	ENST00000311506.5	+	3	393	c.357C>T	c.(355-357)aaC>aaT	p.N119N		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	119					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TCTTGGAGAACAAGAGTGAAG	0.393																																																	0								ENSG00000087995						108	86	92					17																	60503814		692	1591	2283	METTL2A	SO:0001819	synonymous_variant	0			-	HGNC	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.357C>T	17.37:g.60503814C>T		Somatic	0	126	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	86	51.14	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP							pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase	p.N119	ENST00000311506.5	37	c.357	CCDS45752.1	17																																																																																			-	pirsf_MeTrfase		0.393	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	protein_coding	OTTHUMT00000445130.1	C	NM_181725	-		60503814	1	no_errors	ENST00000311506	ensembl	human	known	74_37	silent	SNP	0.000	T	T	60503814	C	T	60503814	2	4	64	1	0	0	0	0	0	0	0	1	9501	477	17	2		2	METTL2A	17	60503814	Silent	SNP	C	TCGA-DX-A48U-01A-11D-A307-09	52925408	60503814	20691396	21	3534											
FAM38B	63895	genome.wustl.edu	37	chr18	10773615	10773615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccgggaggcttccttcCgggtgggccagtctgttggc	17	11	1	0			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr18:10773615C>T	ENST00000503781.3	-	18	2504	c.2505G>A	c.(2503-2505)ccG>ccA	p.P835P	PIEZO2_ENST00000580640.1_Silent_p.P860P|PIEZO2_ENST00000302079.6_Silent_p.P835P|PIEZO2_ENST00000383408.2_Silent_p.P123P	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	835					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GGCTTCCTTCCGGGTGGGCCA	0.562																																																	0								ENSG00000154864						36	32	33					18																	10773615		692	1591	2283	PIEZO2	SO:0001819	synonymous_variant	0			-	HGNC	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2505G>A	18.37:g.10773615C>T		Somatic	0	36	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	17	46.88	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP							NULL	p.P849	ENST00000503781.3	37	c.2547		18																																																																																			-	NULL		0.562	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	protein_coding	OTTHUMT00000442385.4	C	NM_022068	-		10773615	-1	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	SNP	0.681	T	T	10773615	C	T	10773615	2	4	64	1	0	0	0	0	0	0	0	1	5557	639	23	1		1	FAM38B	18	10773615	Silent	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		10773615	67303633	22	3535											
PTPRS	5802	genome.wustl.edu	37	chr19	5212070	5212070	+	Frame_Shift_Del	DEL	G	G	-													ggctgcgtgcgggcacttctGtgttgccacagcccacggcc							TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr19:5212070delG	ENST00000587303.1	-	31	5060	c.4961delC	c.(4960-4962)acafs	p.T1654fs	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Frame_Shift_Del_p.T1634fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.T1616fs|PTPRS_ENST00000372412.4_Frame_Shift_Del_p.T1655fs|PTPRS_ENST00000592099.1_Frame_Shift_Del_p.T1207fs|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.T1616fs|PTPRS_ENST00000353284.2_Frame_Shift_Del_p.T1207fs|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.T1654fs			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1654					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGCACTTCTGTGTTGCCACA	0.612																																																	0								ENSG00000105426						71	65	67					19																	5212070		2203	4300	6503	PTPRS	SO:0001589	frameshift_variant	0				HGNC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4961delC	19.37:g.5212070delG	ENSP00000467537:p.Thr1654fs	Somatic	0	53	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	61	39.00	O75255|O75870|Q15718|Q16341|Q2M3R7	Frame_Shift_Del	DEL							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.T1655fs	ENST00000587303.1	37	c.4964	CCDS45930.1	19																																																																																			-	NULL		0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	protein_coding	OTTHUMT00000450762.2	G				5212070	-1	no_errors	ENST00000372412	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	5212070	G	-	5212070	7	5	64	1	0	1	0	1	0	0	0	0	12819	1377	48	0	913	0	PTPRS	19	5212070	Frame_Shift_Del	DEL	G	TCGA-DX-A48U-01A-11D-A307-09		5212070	53916913	23	3536											
ZNF628	89887	genome.wustl.edu	37	chr19	55993959	55993959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtccttcaagggctccTccgggctgcgctaccacctg	11	16	1	0			TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr19:55993959T>C	ENST00000598519.1	+	3	1952	c.1399T>C	c.(1399-1401)Tcc>Ccc	p.S467P	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.S463P|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	467					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)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAAGGGCTCCTCCGGGCTGCG	0.726																																																	0								ENSG00000197483						19	19	19					19																	55993959		2197	4282	6479	ZNF628	SO:0001583	missense	0			-	HGNC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1399T>C	19.37:g.55993959T>C	ENSP00000469591:p.Ser467Pro	Somatic	0	54	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	4	84.00	Q86X34	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S467P	ENST00000598519.1	37	c.1399	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	14.75	2.629168	0.46944	.	.	ENSG00000197483	ENST00000391718	T	0.07908	3.15	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	U	0.000608	T	0.13927	0.0337	L	0.57536	1.79	0.40698	D	0.982456	P	0.41624	0.757	P	0.46796	0.527	T	0.01743	-1.1283	10	0.87932	D	0	-17.6648	10.2547	0.43390	0.0:0.0:0.0:1.0	.	463	Q5EBL2	ZN628_HUMAN	P	463	ENSP00000375598:S463P	ENSP00000375598:S463P	S	+	1	0	ZNF628	60685771	0.003000	0.15002	0.875000	0.34327	0.982000	0.71751	1.005000	0.29834	1.583000	0.49898	0.398000	0.26397	TCC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.726	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	protein_coding	OTTHUMT00000317934.2	T	XM_058964	-		55993959	1	no_errors	ENST00000598519	ensembl	human	known	74_37	missense	SNP	0.954	C	C	55993959	T	C	55993959	3	2	64	1	0	0	0	0	1	0	0	0	18059	1551	54	5	1389	5	ZNF628	19	55993959	Missense_Mutation	SNP	T	TCGA-DX-A48U-01A-11D-A307-09	50781889	55993959	3135024	24	3537											
GART	2618	genome.wustl.edu	37	chr21	34883664	34883664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgataccacaaggacagCgccaaccccacagttaaatg	7	13	0	1	rs372288271		TCGA-DX-A48U-01A-11D-A307-09	TCGA-DX-A48U-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb75bde-21d7-4529-94e5-8c3d57b82a4d	5e3d2dc3-73c1-4ef0-b649-0be72a5ab634	g.chr21:34883664C>T	ENST00000381831.3	-	17	2472	c.2209G>A	c.(2209-2211)Gct>Act	p.A737T	GART_ENST00000381815.4_Missense_Mutation_p.A737T|GART_ENST00000381839.3_Missense_Mutation_p.A737T|GART_ENST00000543717.1_Missense_Mutation_p.A289T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	737	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACAAGGACAGCGCCAACCCCA	0.547																																																	0								ENSG00000159131	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	244	233	237		2209,2209,2209	5.4	1	21		237	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GART	NM_000819.4,NM_001136005.1,NM_001136006.1	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	737/1011,737/1011,737/1011	34883664	1,13005	2203	4300	6503	GART	SO:0001583	missense	0			-	HGNC	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2209G>A	21.37:g.34883664C>T	ENSP00000371253:p.Ala737Thr	Somatic	0	107	0		0.786928326876588				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	66	54.73	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP							pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.A737T	ENST00000381831.3	37	c.2209	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026689	0.93518	0.0	1.16E-4	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.44	5.44	0.79542	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.57341	-0.7828	10	0.48119	T	0.1	-20.3578	19.2675	0.93996	0.0:1.0:0.0:0.0	.	737	P22102	PUR2_HUMAN	T	1;737;737;737;289	ENSP00000371236:A737T;ENSP00000371253:A737T;ENSP00000371261:A737T;ENSP00000443579:A289T	ENSP00000371236:A737T	A	-	1	0	GART	33805534	1.000000	0.71417	0.995000	0.50966	0.677000	0.39632	7.270000	0.78493	2.573000	0.86826	0.655000	0.94253	GCT	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase		0.547	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	protein_coding	OTTHUMT00000140626.3	C	NM_000819	-		34883664	-1	no_errors	ENST00000381815	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34883664	C	T	34883664	3	4	64	1	0	0	0	0	1	0	0	0	6245	768	27	1	847	1	GART	21	34883664	Missense_Mutation	SNP	C	TCGA-DX-A48U-01A-11D-A307-09		34883664	13246231	25	3538											
PTCHD2	57540	genome.wustl.edu	37	chr1	11596444	11596444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgtgggcgtggccatcGtctccagtgccctcaccacg	13	16	2	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr1:11596444G>A	ENST00000294484.6	+	21	4018	c.3880G>A	c.(3880-3882)Gtc>Atc	p.V1294I	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R180H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1294I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1294					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATCGTCTCCAGTGC	0.657																																																	0								ENSG00000204624						89	94	92					1																	11596444		2200	4279	6479	PTCHD2	SO:0001583	missense	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3880G>A	1.37:g.11596444G>A	ENSP00000294484:p.Val1294Ile	Somatic	0	175	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	11	89.00	Q5VTU9|Q9UJD6	Missense_Mutation	SNP							pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.V1294I	ENST00000294484.6	37	c.3880	CCDS41247.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.154759|4.154759	0.78114|0.78114	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.91407	.|-2.84;-2.84	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.87281|0.87281	0.6138|0.6138	N|N	0.13235|0.13235	0.315|0.315	0.54753|0.54753	D|D	0.999986|0.999986	.|D	.|0.54207	.|0.965	.|P	.|0.51974	.|0.686	D|D	0.86116|0.86116	0.1565|0.1565	6|10	0.87932|0.23891	D|T	0|0.37	-49.9588|-49.9588	17.0791|17.0791	0.86593|0.86593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1294	.|Q9P2K9	.|PTHD2_HUMAN	H|I	180|1294	.|ENSP00000294484:V1294I;ENSP00000374226:V1294I	ENSP00000303400:R180H|ENSP00000294484:V1294I	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11519031|11519031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.263000|6.263000	0.72521|0.72521	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	CGT|GTC	-	pfam_Patched,pfam_MMPL_dom		0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	G	XM_052561	-		11596444	1	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11596444	G	A	11596444	3	1	65	1	0	0	0	0	1	0	0	0	12738	1145	40	1	3958	1	PTCHD2	1	11596444	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		11596444	237654177	1	3539											
TIE1	7075	genome.wustl.edu	37	chr1	43783334	43783334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaacctcctgggggcctGtaagaaccgaggtgagcccc	12	14	1	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr1:43783334G>A	ENST00000372476.3	+	16	2799	c.2720G>A	c.(2719-2721)tGt>tAt	p.C907Y	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.C552Y	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	907	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGGGGGCCTGTAAGAACCGA	0.557																																																	0								ENSG00000066056						101	114	110					1																	43783334		2203	4300	6503	TIE1	SO:0001583	missense	0			-	HGNC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2720G>A	1.37:g.43783334G>A	ENSP00000361554:p.Cys907Tyr	Somatic	0	73	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	B5A949|B5A950	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C907Y	ENST00000372476.3	37	c.2720	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422515	0.83559	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84442	-1.85;-1.85	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000521	D	0.92492	0.7616	M	0.75884	2.315	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.989;0.985;0.989	D	0.92778	0.6238	10	0.87932	D	0	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	862;552;907	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	Y	907;310;190;552	ENSP00000361554:C907Y;ENSP00000411728:C552Y	ENSP00000361553:C310Y	C	+	2	0	TIE1	43555921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.675000	0.91044	0.655000	0.94253	TGT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.557	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	protein_coding	OTTHUMT00000019011.1	G	NM_005424	-		43783334	1	no_errors	ENST00000372476	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43783334	G	A	43783334	3	1	65	1	0	0	0	0	1	0	0	0	15900	1377	48	2	2782	2	TIE1	1	43783334	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	32186890	43783334	205467287	2	3540											
AK5	26289	genome.wustl.edu	37	chr1	77984281	77984281	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcaaaggcacacagtgtGaaaagctggtggaaaaatat	12	6	0	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr1:77984281G>A	ENST00000354567.2	+	11	1443	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	AK5_ENST00000344720.5_Missense_Mutation_p.E368K	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	394	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CACACAGTGTGAAAAGCTGGT	0.453																																																	0								ENSG00000154027						65	59	61					1																	77984281		2203	4300	6503	AK5	SO:0001583	missense	0			-	HGNC	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1180G>A	1.37:g.77984281G>A	ENSP00000346577:p.Glu394Lys	Somatic	0	83	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	68	37.04	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP							pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.E394K	ENST00000354567.2	37	c.1180	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102668	0.56183	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.71222	-0.55;-0.55	5.12	2.23	0.28157	.	0.419710	0.23091	N	0.052030	T	0.37945	0.1022	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.15464	-1.0436	10	0.32370	T	0.25	-3.0776	9.5141	0.39095	0.2357:0.0:0.7643:0.0	.	394	Q9Y6K8	KAD5_HUMAN	K	394;368	ENSP00000346577:E394K;ENSP00000341430:E368K	ENSP00000341430:E368K	E	+	1	0	AK5	77756869	1.000000	0.71417	0.799000	0.32177	0.906000	0.53458	4.362000	0.59467	0.282000	0.22254	-0.136000	0.14681	GAA	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenylate_kin1		0.453	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	protein_coding	OTTHUMT00000026993.4	G	NM_174858	-		77984281	1	no_errors	ENST00000354567	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77984281	G	A	77984281	3	1	65	1	0	0	0	0	1	0	0	0	443	1291	45	2	1222	2	AK5	1	77984281	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	34200947	77984281	171266340	3	3541											
AK5	26289	genome.wustl.edu	37	chr1	77984373	77984373	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaatctgaaagaagcaaattGatcagagacattatggaacg	10	5	2	4			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr1:77984373G>C	ENST00000354567.2	+	11	1535	c.1272G>C	c.(1270-1272)ttG>ttC	p.L424F	AK5_ENST00000344720.5_Missense_Mutation_p.L398F	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	424	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAAGCAAATTGATCAGAGACA	0.483																																																	0								ENSG00000154027						111	100	103					1																	77984373		2203	4300	6503	AK5	SO:0001583	missense	0			-	HGNC	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1272G>C	1.37:g.77984373G>C	ENSP00000346577:p.Leu424Phe	Somatic	0	91	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	63	33.68	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP							pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.L424F	ENST00000354567.2	37	c.1272	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	8.013	0.758002	0.15846	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.77358	-1.09;-1.09	5.21	4.27	0.50696	.	0.556961	0.16274	N	0.221658	T	0.61652	0.2364	L	0.53249	1.67	0.80722	D	1	B	0.17852	0.024	B	0.15052	0.012	T	0.61710	-0.7007	10	0.41790	T	0.15	.	13.6011	0.62020	0.0:0.4274:0.5726:0.0	.	424	Q9Y6K8	KAD5_HUMAN	F	424;398	ENSP00000346577:L424F;ENSP00000341430:L398F	ENSP00000341430:L398F	L	+	3	2	AK5	77756961	0.983000	0.35010	0.974000	0.42286	0.820000	0.46376	0.876000	0.28092	1.276000	0.44395	0.655000	0.94253	TTG	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenylate_kin1		0.483	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	protein_coding	OTTHUMT00000026993.4	G	NM_174858	-		77984373	1	no_errors	ENST00000354567	ensembl	human	known	74_37	missense	SNP	0.998	C	C	77984373	G	C	77984373	3	2	65	1	0	0	0	0	1	0	0	0	443	1281	45	4	1314	4	AK5	1	77984373	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	92	77984373	171266248	4	3542											
CACNA1S	779	genome.wustl.edu	37	chr1	201038658	201038658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccagtgcagcgctgctgAgcaggatgaagagcaggatg	16	9	0	3			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr1:201038658A>C	ENST00000362061.3	-	18	2658	c.2432T>G	c.(2431-2433)cTc>cGc	p.L811R	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L811R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	811					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)	AGCGCTGCTgagcaggatgaa	0.617																																																	0								ENSG00000081248						61	49	53					1																	201038658		2201	4299	6500	CACNA1S	SO:0001583	missense	0			-	HGNC	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.2432T>G	1.37:g.201038658A>C	ENSP00000355192:p.Leu811Arg	Somatic	0	85	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	89	11.00	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.L811R	ENST00000362061.3	37	c.2432	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202515	0.79127	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97888	-4.59;-4.59	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.94345	3.525	0.58432	D	0.999992	D	0.58620	0.983	P	0.61592	0.891	D	0.99486	1.0949	10	0.87932	D	0	.	13.0387	0.58887	1.0:0.0:0.0:0.0	.	811	Q13698	CAC1S_HUMAN	R	811	ENSP00000355192:L811R;ENSP00000356307:L811R	ENSP00000355192:L811R	L	-	2	0	CACNA1S	199305281	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.104000	0.94239	1.549000	0.49425	0.448000	0.29417	CTC	-	NULL		0.617	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	A	NM_000069	-		201038658	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	SNP	1.000	C	C	201038658	A	C	201038658	3	2	65	1	0	0	0	0	1	0	0	0	2549	304	11	5	3297	5	CACNA1S	1	201038658	Missense_Mutation	SNP	A	TCGA-DX-A48V-01A-11D-A307-09	123054285	201038658	48211963	5	3543											
OBSCN	84033	genome.wustl.edu	37	chr1	228521396	228521396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accctggagatcatctccgtCacccgggaggactctggcca	11	15	4	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr1:228521396C>T	ENST00000422127.1	+	59	16013	c.15969C>T	c.(15967-15969)gtC>gtT	p.V5323V	OBSCN_ENST00000366707.4_Silent_p.V2957V|OBSCN_ENST00000284548.11_Silent_p.V5323V|OBSCN_ENST00000366709.4_Silent_p.V2442V|OBSCN_ENST00000570156.2_Silent_p.V6280V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5323	Ig-like 50.				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)				TCATCTCCGTCACCCGGGAGG	0.582																																																	0								ENSG00000154358						47	54	51					1																	228521396		2084	4232	6316	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.15969C>T	1.37:g.228521396C>T		Somatic	0	136	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	74	41.73	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V5323	ENST00000422127.1	37	c.15969	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228521396	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.827	T	T	228521396	C	T	228521396	2	4	65	1	0	0	0	0	0	0	0	1	10814	813	29	2		2	OBSCN	1	228521396	Silent	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	27482738	228521396	20729225	6	3544											
SPEG	10290	genome.wustl.edu	37	chr2	220327072	220327072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgtcatcatgagcaTccgcgtgcagggggagccca	13	12	2	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr2:220327072T>G	ENST00000312358.7	+	8	2801	c.2669T>G	c.(2668-2670)aTc>aGc	p.I890S	SPEG_ENST00000396686.1_Missense_Mutation_p.I41S|SPEG_ENST00000396698.1_Missense_Mutation_p.I786S|SPEG_ENST00000396689.2_Missense_Mutation_p.I41S|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.I41S|SPEG_ENST00000396695.2_Missense_Mutation_p.I98S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	890	Ig-like 3.				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)		ATCATGAGCATCCGCGTGCAG	0.592																																																	0								ENSG00000072195						25	29	28					2																	220327072		2017	4176	6193	SPEG	SO:0001583	missense	0			-	HGNC	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.2669T>G	2.37:g.220327072T>G	ENSP00000311684:p.Ile890Ser	Somatic	0	70	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP							pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I98S	ENST00000312358.7	37	c.293	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324592	0.81580	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40908	D	0.000990	T	0.74275	0.3695	N	0.12746	0.255	0.39907	D	0.973971	D;P;D	0.71674	0.959;0.949;0.998	P;P;D	0.68483	0.626;0.57;0.958	T	0.79708	-0.1690	10	0.59425	D	0.04	.	14.2182	0.65807	0.0:0.0:0.0:1.0	.	890;98;786	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	S	890;890;786;98;41;41;41	ENSP00000311684:I890S;ENSP00000379926:I786S;ENSP00000379923:I98S;ENSP00000379919:I41S;ENSP00000379917:I41S;ENSP00000379920:I41S	ENSP00000265327:I890S	I	+	2	0	SPEG	220035316	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	2.624000	0.46444	2.172000	0.68678	0.533000	0.62120	ATC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.592	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	T	NM_005876	-		220327072	1	no_errors	ENST00000396695	ensembl	human	known	74_37	missense	SNP	1.000	G	G	220327072	T	G	220327072	3	3	65	1	0	0	0	0	1	0	0	0	15043	1435	50	5	2699	5	SPEG	2	220327072	Missense_Mutation	SNP	T	TCGA-DX-A48V-01A-11D-A307-09		220327072	22872301	7	3545											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465046	48465046	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccggtccacctcatccagGgggaaggcacagagggcaga	15	12	1	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr3:48465046G>C	ENST00000358536.4	-	3	1244	c.975C>G	c.(973-975)ccC>ccG	p.P325P	PLXNB1_ENST00000456774.1_Silent_p.P325P|PLXNB1_ENST00000296440.6_Silent_p.P325P|PLXNB1_ENST00000358459.4_Silent_p.P325P|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	325	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		CCTCATCCAGGGGGAAGGCAC	0.657																																																	0								ENSG00000164050						38	41	40					3																	48465046		2203	4300	6503	PLXNB1	SO:0001819	synonymous_variant	0			-	HGNC	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.975C>G	3.37:g.48465046G>C		Somatic	0	120	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	64	44.83	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P325	ENST00000358536.4	37	c.975	CCDS2765.1	3																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	G	NM_002673	-		48465046	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	silent	SNP	0.802	C	C	48465046	G	C	48465046	2	2	65	1	0	0	0	0	0	0	0	1	12125	1219	43	4		4	PLXNB1	3	48465046	Silent	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		48465046	149557384	8	3546											
GNAT1	2779	genome.wustl.edu	37	chr3	50229150	50229164	+	Start_Codon_Del	DEL	GCTGGGACCATGGGG	GCTGGGACCATGGGG	-													actctgtcccttcgcctgctGctgggaccatgggggctggg					rs151191490		TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	GCTGGGACCATGGGG	GCTGGGACCATGGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr3:50229150_50229164delGCTGGGACCATGGGG	ENST00000433068.1	+	0	48_62				GNAT1_ENST00000232461.3_Start_Codon_Del	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCA	0.619																																																	0								ENSG00000114349																																			GNAT1	SO:0001582	initiator_codon_variant	0				HGNC		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808		3.37:g.50229150_50229164delGCTGGGACCATGGGG		Somatic					0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q4VBN2	In_Frame_Del	DEL							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.11in_frame_del	ENST00000433068.1	37	c.10_6	CCDS2812.1	3																																																																																			-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.619	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	protein_coding	OTTHUMT00000345957.1	GCTGGGACCATGGGG	NM_000172			50229164	1	no_errors	ENST00000232461	ensembl	human	known	74_37	in_frame_del	DEL	0.028:0.025:0.005:0.099:0.108:0.097:0.110:0.223:0.447:0.998:1.000:1.000:1.000:1.000:1.000	-	-	50229164	GCTGGGACCATGGGG	-	50229150	7	5	65	1	0	1	0	1	0	0	0	0	6513	1334	46	0		0	GNAT1	3	50229150	Start_Codon_Del	DEL	GCTGGGACCATGGGG	TCGA-DX-A48V-01A-11D-A307-09	1764104	50229150	147793280	9	3547											
ATP6V1A	523	genome.wustl.edu	37	chr3	113505151	113505151	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcaagtatggcctgtacgtCaagttcgacctgtcactgag	11	10	2	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr3:113505151C>G	ENST00000273398.3	+	6	745	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Q180E	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	213					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)|transferrin transport (GO:0033572)|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)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GCCTGTACGTCAAGTTCGACC	0.448																																																	0								ENSG00000114573						218	192	200					3																	113505151		2203	4300	6503	ATP6V1A	SO:0001583	missense	0			-	HGNC	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.637C>G	3.37:g.113505151C>G	ENSP00000273398:p.Gln213Glu	Somatic	1	172	0.58		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	137	37.44	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP							pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.Q213E	ENST00000273398.3	37	c.637	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039624	0.19669	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	T;T	0.81330	-1.48;-1.48	5.33	5.33	0.75918	.	0.111853	0.64402	D	0.000003	T	0.76506	0.3997	M	0.74467	2.265	0.53005	D	0.99996	B	0.11235	0.004	B	0.17098	0.017	T	0.67818	-0.5572	10	0.09084	T	0.74	-11.6205	10.5281	0.44960	0.1488:0.7075:0.1437:0.0	.	213	P38606	VATA_HUMAN	E	213;180;180;213	ENSP00000273398:Q213E;ENSP00000439874:Q180E	ENSP00000273398:Q213E	Q	+	1	0	ATP6V1A	114987841	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.312000	0.59154	2.499000	0.84300	0.591000	0.81541	CAA	-	superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_asu		0.448	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	protein_coding	OTTHUMT00000354457.1	C	NM_001690	-		113505151	1	no_errors	ENST00000273398	ensembl	human	known	74_37	missense	SNP	0.999	G	G	113505151	C	G	113505151	3	3	65	1	0	0	0	0	1	0	0	0	1177	827	29	4	655	4	ATP6V1A	3	113505151	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	63276001	113505151	84517279	10	3548											
ATP6V1A	523	genome.wustl.edu	37	chr3	113505230	113505230	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccttgatgccctttttcCgtaagtttgagatgtgtccc	9	10	0	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr3:113505230C>T	ENST00000273398.3	+	6	824	c.716C>T	c.(715-717)cCg>cTg	p.P239L	ATP6V1A_ENST00000538620.1_Splice_Site_p.P206L	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	239					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)|transferrin transport (GO:0033572)|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)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GCCCTTTTTCCGTAAGTTTGA	0.418																																																	0								ENSG00000114573						214	198	203					3																	113505230		2203	4300	6503	ATP6V1A	SO:0001630	splice_region_variant	0			-	HGNC	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.716+1C>T	3.37:g.113505230C>T		Somatic	0	240	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	124	176	41.06	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP							pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.P239L	ENST00000273398.3	37	c.716	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.185225	0.94885	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.87491	-2.26;-2.26	5.33	5.33	0.75918	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.047084	0.85682	N	0.000000	D	0.96237	0.8773	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97680	1.0172	10	0.87932	D	0	-2.618	18.9993	0.92826	0.0:1.0:0.0:0.0	.	239	P38606	VATA_HUMAN	L	239;206	ENSP00000273398:P239L;ENSP00000439874:P206L	ENSP00000273398:P239L	P	+	2	0	ATP6V1A	114987920	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.280000	0.78610	2.499000	0.84300	0.591000	0.81541	CCG	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_asu		0.418	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	protein_coding	OTTHUMT00000354457.1	C	NM_001690	-	Missense_Mutation	113505230	1	no_errors	ENST00000273398	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113505230	C	T	113505230	5	4	65	1	0	0	0	0	0	0	1	0	1177	666	23	1	734	1	ATP6V1A	3	113505230	Splice_Site	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	79	113505230	84517200	11	3549											
STIM2	57620	genome.wustl.edu	37	chr4	27010131	27010131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctagatgaggtagacCacaaaattctggaagcaaag	9	10	1	3			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr4:27010131C>T	ENST00000467011.1	+	9	1656	c.1231C>T	c.(1231-1233)Cac>Tac	p.H411Y	STIM2_ENST00000412829.2_Missense_Mutation_p.H498Y|STIM2_ENST00000237364.5_Missense_Mutation_p.H498Y|STIM2_ENST00000465503.1_Missense_Mutation_p.H419Y|STIM2_ENST00000382009.3_Missense_Mutation_p.H506Y|STIM2_ENST00000467087.1_Missense_Mutation_p.H411Y	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	411					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGAGGTAGACCACAAAATTCT	0.338																																																	0								ENSG00000109689						68	66	67					4																	27010131		2203	4300	6503	STIM2	SO:0001583	missense	0			-	HGNC	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1231C>T	4.37:g.27010131C>T	ENSP00000419383:p.His411Tyr	Somatic	0	95	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	64	44.35	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP							pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.H506Y	ENST00000467011.1	37	c.1516	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185244	0.78677	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.80123	-1.21;-1.21;-1.21;-1.21;-1.21;-1.2;-1.2;-1.34	5.42	5.42	0.78866	.	0.100596	0.64402	D	0.000002	D	0.88526	0.6460	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.69078	0.997;0.993;0.993;0.996	D;D;D;D	0.75484	0.986;0.968;0.968;0.986	D	0.88885	0.3342	10	0.72032	D	0.01	.	19.5823	0.95473	0.0:1.0:0.0:0.0	.	411;498;506;498	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	Y	411;506;498;411;498;419;119;13	ENSP00000419073:H411Y;ENSP00000371439:H506Y;ENSP00000237364:H498Y;ENSP00000419383:H411Y;ENSP00000404812:H498Y;ENSP00000417569:H419Y;ENSP00000420113:H119Y;ENSP00000419536:H13Y	ENSP00000237364:H498Y	H	+	1	0	STIM2	26619229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.722000	0.68485	2.695000	0.91970	0.655000	0.94253	CAC	-	NULL		0.338	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	protein_coding	OTTHUMT00000356861.1	C	NM_020860	-		27010131	1	no_errors	ENST00000382009	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27010131	C	T	27010131	3	4	65	1	0	0	0	0	1	0	0	0	15291	594	21	2	1293	2	STIM2	4	27010131	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09		27010131	164144145	12	3550											
PPAT	5471	genome.wustl.edu	37	chr4	57301629	57301629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcctctcggatccccaaCtcctccagctccatgtcgcc	5	20	1	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr4:57301629C>A	ENST00000264220.2	-	1	152	c.15G>T	c.(13-15)gaG>gaT	p.E5D	PAICS_ENST00000264221.2_5'Flank|PAICS_ENST00000512576.1_5'Flank|PAICS_ENST00000399688.3_5'Flank|PAICS_ENST00000514888.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	5					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GGATCCCCAACTCCTCCAGCT	0.637																																																	0								ENSG00000128059						99	90	93					4																	57301629		2203	4300	6503	PPAT	SO:0001583	missense	0			-	HGNC		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.15G>T	4.37:g.57301629C>A	ENSP00000264220:p.Glu5Asp	Somatic	0	93	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	51	40.00		Missense_Mutation	SNP							pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.E5D	ENST00000264220.2	37	c.15	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558455	0.45590	.	.	ENSG00000128059	ENST00000264220	T	0.64085	-0.08	5.14	2.3	0.28687	.	0.050821	0.85682	D	0.000000	T	0.34106	0.0886	N	0.04203	-0.255	0.48975	D	0.999732	B	0.16802	0.019	B	0.10450	0.005	T	0.06463	-1.0825	10	0.14656	T	0.56	-20.4406	10.1894	0.43017	0.0:0.7694:0.0:0.2306	.	5	Q06203	PUR1_HUMAN	D	5	ENSP00000264220:E5D	ENSP00000264220:E5D	E	-	3	2	PPAT	56996386	0.990000	0.36364	0.958000	0.39756	0.407000	0.30961	1.633000	0.37113	0.682000	0.31407	-0.367000	0.07326	GAG	-	pirsf_Amd_phspho_trans		0.637	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	protein_coding	OTTHUMT00000250781.2	C	NM_002703	-		57301629	-1	no_errors	ENST00000264220	ensembl	human	known	74_37	missense	SNP	0.997	A	A	57301629	C	A	57301629	3	1	65	1	0	0	0	0	1	0	0	0	12304	564	20	3	1582	3	PPAT	4	57301629	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	30291498	57301629	133852647	13	3551											
AFM	173	genome.wustl.edu	37	chr4	74361050	74361050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactcaaggagacatccagaCctgtctataccagagctttt	7	11	2	3			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr4:74361050C>G	ENST00000226355.3	+	9	1185	c.1092C>G	c.(1090-1092)gaC>gaG	p.D364E		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	364	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACATCCAGACCTGTCTATAC	0.358																																																	0								ENSG00000079557						84	94	91					4																	74361050		2203	4300	6503	AFM	SO:0001583	missense	0			-	HGNC	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1092C>G	4.37:g.74361050C>G	ENSP00000226355:p.Asp364Glu	Somatic	0	114	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	70	50.35	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP							pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein	p.D364E	ENST00000226355.3	37	c.1092	CCDS3557.1	4	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186162	0.01620	.	.	ENSG00000079557	ENST00000226355	T	0.71817	-0.6	4.02	-5.93	0.02254	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.563068	0.18452	N	0.140812	T	0.28863	0.0716	N	0.03194	-0.395	0.24303	N	0.995111	B	0.09022	0.002	B	0.10450	0.005	T	0.45877	-0.9231	10	0.02654	T	1	.	0.9463	0.01366	0.2873:0.1597:0.3392:0.2138	.	364	P43652	AFAM_HUMAN	E	364	ENSP00000226355:D364E	ENSP00000226355:D364E	D	+	3	2	AFM	74579914	0.136000	0.22515	0.731000	0.30826	0.570000	0.35934	-0.397000	0.07269	-1.018000	0.03363	0.655000	0.94253	GAC	-	pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N		0.358	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	protein_coding	OTTHUMT00000252275.2	C		-		74361050	1	no_errors	ENST00000226355	ensembl	human	known	74_37	missense	SNP	0.728	G	G	74361050	C	G	74361050	3	3	65	1	0	0	0	0	1	0	0	0	361	506	18	4	1126	4	AFM	4	74361050	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	17059421	74361050	116793226	14	3552											
PCDHB11	56125	genome.wustl.edu	37	chr5	140579996	140579996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctctctgctctggatGgtgggtcccctcccaggtct	10	15	4	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr5:140579996G>T	ENST00000354757.3	+	1	649	c.649G>T	c.(649-651)Ggt>Tgt	p.G217C	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	217	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(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)			TGCTCTGGATGGTGGGTCCCC	0.507																																																	0								ENSG00000197479						81	83	82					5																	140579996		2203	4300	6503	PCDHB11	SO:0001583	missense	0			-	HGNC	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.649G>T	5.37:g.140579996G>T	ENSP00000346802:p.Gly217Cys	Somatic	0	162	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	88	38.46	B4DSF7|Q2M223	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G217C	ENST00000354757.3	37	c.649	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163998	0.57476	.	.	ENSG00000197479	ENST00000354757	T	0.53206	0.63	2.7	1.78	0.24846	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72716	0.3495	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74219	-0.3736	9	0.87932	D	0	.	8.4334	0.32773	0.1279:0.0:0.8721:0.0	.	217	Q9Y5F2	PCDBB_HUMAN	C	217	ENSP00000346802:G217C	ENSP00000346802:G217C	G	+	1	0	PCDHB11	140560180	1.000000	0.71417	0.265000	0.24526	0.224000	0.24922	3.925000	0.56484	0.420000	0.25954	0.467000	0.42956	GGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	G	NM_018931	-		140579996	1	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140579996	G	T	140579996	3	4	65	1	0	0	0	0	1	0	0	0	11538	1348	47	3	651	3	PCDHB11	5	140579996	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		140579996	40335264	15	3553											
GCLC	2729	genome.wustl.edu	37	chr6	53409419	53409419	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcctcccagctcagcgGcgagccctgggacagcagcc	13	16	1	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr6:53409419G>C	ENST00000229416.6	-	1	508	c.25C>G	c.(25-27)Ccg>Gcg	p.P9A	GCLC_ENST00000514004.1_Missense_Mutation_p.P9A	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	9					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|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)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CAGCTCAGCGGCGAGCCCTGG	0.706																																																	0								ENSG00000001084						51	42	45					6																	53409419		2203	4299	6502	GCLC	SO:0001583	missense	0			-	HGNC	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.25C>G	6.37:g.53409419G>C	ENSP00000229416:p.Pro9Ala	Somatic	0	114	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	66	38.89	Q14399	Missense_Mutation	SNP							pfam_GCS	p.P9A	ENST00000229416.6	37	c.25	CCDS4952.1	6	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819802	0.90873	.	.	ENSG00000001084	ENST00000229416;ENST00000514004	T;T	0.75154	-0.91;-0.91	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85197	0.1013	10	0.48119	T	0.1	.	17.6062	0.88039	0.0:0.0:1.0:0.0	.	9	P48506	GSH1_HUMAN	A	9	ENSP00000229416:P9A;ENSP00000421908:P9A	ENSP00000229416:P9A	P	-	1	0	GCLC	53517378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.959000	0.93110	2.300000	0.77407	0.467000	0.42956	CCG	-	NULL		0.706	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLC	protein_coding	OTTHUMT00000359710.2	G		-		53409419	-1	no_errors	ENST00000229416	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53409419	G	C	53409419	3	2	65	1	0	0	0	0	1	0	0	0	6297	1203	42	4	1952	4	GCLC	6	53409419	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		53409419	117705648	16	3554											
COL12A1	1303	genome.wustl.edu	37	chr6	75848600	75848600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagagacacatctgaagCtccatgatcccaagtccctc	8	13	1	4	rs550455854	byFrequency	TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr6:75848600C>T	ENST00000322507.8	-	28	5344	c.5035G>A	c.(5035-5037)Gct>Act	p.A1679T	COL12A1_ENST00000483888.2_Missense_Mutation_p.A1679T|COL12A1_ENST00000345356.6_Missense_Mutation_p.A515T|COL12A1_ENST00000416123.2_Missense_Mutation_p.A1679T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1679	Fibronectin type-III 12. {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						ACATCTGAAGCTCCATGATCC	0.438													C|||	2	0.000399361	8e-04	0	5008	,	,		17186	0		0.001	False		,,,				2504	0																0								ENSG00000111799						123	121	121					6																	75848600		1857	4098	5955	COL12A1	SO:0001583	missense	0			-	HGNC	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.5035G>A	6.37:g.75848600C>T	ENSP00000325146:p.Ala1679Thr	Somatic	0	46	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.A1679T	ENST00000322507.8	37	c.5035	CCDS43482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.211289|4.211289	0.79240|0.79240	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.120747|.	0.64402|.	D|.	0.000020|.	T|T	0.66616|0.66616	0.2807|0.2807	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.984;0.998|.	P;D|.	0.70016|.	0.862;0.967|.	T|T	0.60870|0.60870	-0.7177|-0.7177	10|5	0.66056|.	D|.	0.02|.	.|.	20.4024|20.4024	0.99000|0.99000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	515;1679|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	T|N	1679;1679;515;1679;1679|420	ENSP00000325146:A1679T;ENSP00000305147:A515T;ENSP00000412864:A1679T;ENSP00000421216:A1679T|.	ENSP00000325146:A1679T|.	A|S	-|-	1|2	0|0	COL12A1|COL12A1	75905320|75905320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.129000|0.129000	0.20672|0.20672	7.294000|7.294000	0.78760|0.78760	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GCT|AGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	C	NM_004370	-		75848600	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75848600	C	T	75848600	3	4	65	1	0	0	0	0	1	0	0	0	3671	797	28	2	4312	2	COL12A1	6	75848600	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	22439181	75848600	95266467	17	3555											
ENPP3	5169	genome.wustl.edu	37	chr6	131992466	131992466	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcattacaccattgtcaCggtaagtgcttgacccagtg	8	10	2	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr6:131992466C>T	ENST00000414305.1	+	8	969	c.641C>T	c.(640-642)aCg>aTg	p.T214M	ENPP3_ENST00000543135.1_Splice_Site_p.T180M|ENPP3_ENST00000427148.2_Splice_Site_p.T180M|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Splice_Site_p.T214M|ENPP3_ENST00000357639.3_Splice_Site_p.T214M			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	214	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACCATTGTCACGGTAAGTGCT	0.433																																																	0								ENSG00000154269						199	170	180					6																	131992466		2203	4300	6503	ENPP3	SO:0001630	splice_region_variant	0			-	HGNC	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.642+1C>T	6.37:g.131992466C>T		Somatic	0	43	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q5JTL3	Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.T214M	ENST00000414305.1	37	c.641	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266327	0.80358	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000001	D	0.97810	0.9281	H	0.98218	4.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98710	1.0704	10	0.72032	D	0.01	-13.6389	18.5765	0.91157	0.0:1.0:0.0:0.0	.	214	O14638	ENPP3_HUMAN	M	214;214;180;180;214	ENSP00000406261:T214M;ENSP00000350265:T214M;ENSP00000440810:T180M;ENSP00000399269:T180M;ENSP00000350964:T214M	ENSP00000350265:T214M	T	+	2	0	ENPP3	132034159	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.343000	0.72986	2.756000	0.94617	0.655000	0.94253	ACG	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.433	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	protein_coding	OTTHUMT00000043627.2	C		-	Missense_Mutation	131992466	1	no_errors	ENST00000357639	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131992466	C	T	131992466	5	4	65	1	0	0	0	0	0	0	1	0	5133	550	19	1	667	1	ENPP3	6	131992466	Splice_Site	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	56143866	131992466	39122601	18	3556											
KIAA1549	57670	genome.wustl.edu	37	chr7	138602177	138602177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcagtgaaaccgtagacGcttcaacaaactcgagagaa	9	11	2	3	rs375118283		TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr7:138602177G>A	ENST00000422774.1	-	2	2243	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A682V|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A732V			Q9HCM3	K1549_HUMAN	KIAA1549	732	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACCGTAGACGCTTCAACAAA	0.458			O	BRAF	pilocytic astrocytoma								G|||	1	0.000199681	8e-04	0	5008	,	,		22456	0		0	False		,,,				2504	0				NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778	G	VAL/ALA,VAL/ALA	3,3909		0,3,1953	66	63	64		2195,2195	2.4	0	7		64	0,8312		0,0,4156	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	64,64	0,3,6109	AA,AG,GG		0.0,0.0767,0.0245	benign,benign	732/1951,732/1935	138602177	3,12221	1956	4156	6112	KIAA1549	SO:0001583	missense	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2195C>T	7.37:g.138602177G>A	ENSP00000416040:p.Ala732Val	Somatic	0	75	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	57	39.36	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.A732V	ENST00000422774.1	37	c.2195	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490435	0.26686	7.67E-4	0.0	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26067	1.76;1.76;1.76	4.25	2.4	0.29515	.	0.492284	0.18841	N	0.129663	T	0.12390	0.0301	N	0.24115	0.695	0.09310	N	1	P;P	0.39624	0.553;0.681	B;B	0.29440	0.047;0.102	T	0.14309	-1.0477	10	0.32370	T	0.25	.	7.9343	0.29920	0.1938:0.0:0.8062:0.0	.	732;732	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	V	732;682;732	ENSP00000406661:A732V;ENSP00000242365:A682V;ENSP00000416040:A732V	ENSP00000242365:A682V	A	-	2	0	KIAA1549	138252717	0.554000	0.26522	0.002000	0.10522	0.009000	0.06853	1.103000	0.31062	0.426000	0.26116	0.591000	0.81541	GCG	-	NULL		0.458	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	G		-		138602177	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	0.116	A	A	138602177	G	A	138602177	3	1	65	1	0	0	0	0	1	0	0	0	8246	1087	38	1	3733	1	KIAA1549	7	138602177	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		138602177	20536486	19	3557											
SLC45A4	57210	genome.wustl.edu	37	chr8	142222376	142222376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcttttcgctgttcccacCggccctgccttcgccggcca	11	18	0	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr8:142222376C>A	ENST00000024061.3	-	7	2375	c.2068G>T	c.(2068-2070)Ggt>Tgt	p.G690C	SLC45A4_ENST00000519067.1_Missense_Mutation_p.G690C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.G741C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G683C	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGTTCCCACCGGCCCTGCCT	0.642																																																	0								ENSG00000022567						36	33	34					8																	142222376		2201	4300	6501	SLC45A4	SO:0001583	missense	0			-	HGNC	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2068G>T	8.37:g.142222376C>A	ENSP00000024061:p.Gly690Cys	Somatic	0	76	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	58	27.50	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP							superfamily_MFS_dom_general_subst_transpt	p.G741C	ENST00000024061.3	37	c.2221	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458458	0.43634	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.17370	2.34;2.3;2.31;2.28	4.2	-5.55	0.02536	.	0.861717	0.09958	N	0.733808	T	0.34308	0.0893	M	0.67953	2.075	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.65773	0.68;0.938;0.911	T	0.38824	-0.9643	10	0.87932	D	0	-0.7871	14.4865	0.67622	0.0:0.3587:0.0:0.6413	.	741;690;690	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	C	690;741;683;690	ENSP00000429059:G690C;ENSP00000428137:G741C;ENSP00000400799:G683C;ENSP00000024061:G690C	ENSP00000024061:G690C	G	-	1	0	SLC45A4	142291558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-1.181000	0.02730	-0.783000	0.03347	GGT	-	NULL		0.642	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	protein_coding	OTTHUMT00000378571.3	C	XM_050325	-		142222376	-1	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	SNP	0.000	A	A	142222376	C	A	142222376	3	1	65	1	0	0	0	0	1	0	0	0	14651	652	23	3	336	3	SLC45A4	8	142222376	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09		142222376	4141646	20	3558											
OPLAH	26873	genome.wustl.edu	37	chr8	145110770	145110770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtgccggggacttcGgcccccacggagatgcagat	13	15	0	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr8:145110770G>A	ENST00000426825.1	-	16	2250	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	723					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGGACTTCGGCCCCCACGG	0.647																																																	0								ENSG00000178814						29	32	31					8																	145110770		1972	4140	6112	OPLAH	SO:0001819	synonymous_variant	0			-	HGNC	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2169C>T	8.37:g.145110770G>A		Somatic	0	115	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	68	44.26	A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP							pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.A723	ENST00000426825.1	37	c.2169		8																																																																																			-	NULL		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	protein_coding		G	NM_017570	-		145110770	-1	no_errors	ENST00000426825	ensembl	human	known	74_37	silent	SNP	0.004	A	A	145110770	G	A	145110770	2	1	65	1	0	0	0	0	0	0	0	1	10878	1103	39	1		1	OPLAH	8	145110770	Silent	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	2888394	145110770	1253252	21	3559											
ANKRD20A1	84210	genome.wustl.edu	37	chr9	67968798	67968798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaagtaagaagctaaTgaatgaatgtgatcatttaa	9	2	1	5	rs201758821		TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr9:67968798T>C	ENST00000377477.2	+	15	2469	c.2357T>C	c.(2356-2358)aTg>aCg	p.M786T	RP11-195B21.3_ENST00000417488.1_5'UTR	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	786						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAGAAGCTAATGAATGAATGT	0.328																																																	0								ENSG00000196774						1	1	1					9																	67968798		4	15	19	ANKRD20A1	SO:0001583	missense	0			-	HGNC	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"Ankyrin repeat domain containing"	23665	protein-coding gene	gene with protein product			"ankyrin repeat domain 20A"	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.2357T>C	9.37:g.67968798T>C	ENSP00000366697:p.Met786Thr	Somatic	0	9	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00	Q9H0H6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M786T	ENST00000377477.2	37	c.2357	CCDS6620.1	9	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.279168	0.01410	.	.	ENSG00000196774	ENST00000377477	T	0.13778	2.56	1.88	0.641	0.17759	.	.	.	.	.	T	0.10680	0.0261	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30268	-0.9984	9	0.72032	D	0.01	.	4.9653	0.14087	0.0:0.1793:0.0:0.8207	.	786	Q5TYW2	A20A1_HUMAN	T	786	ENSP00000366697:M786T	ENSP00000366697:M786T	M	+	2	0	ANKRD20A1	67558618	0.201000	0.23410	0.001000	0.08648	0.004000	0.04260	0.935000	0.28924	0.037000	0.15575	0.092000	0.15492	ATG	-	NULL		0.328	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A1	protein_coding	OTTHUMT00000083800.1	T		rs201758821		67968798	1	no_errors	ENST00000377477	ensembl	human	known	74_37	missense	SNP	0.157	C	C	67968798	T	C	67968798	3	2	65	1	0	0	0	0	1	0	0	0	648	1464	51	5	2415	5	ANKRD20A1	9	67968798	Missense_Mutation	SNP	T	TCGA-DX-A48V-01A-11D-A307-09		67968798	73244633	22	3560											
GABBR2	9568	genome.wustl.edu	37	chr9	101258770	101258770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcaatgtcctcgccataCagaactccagtcaggtcatt	6	13	3	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr9:101258770C>T	ENST00000259455.2	-	4	1116	c.657G>A	c.(655-657)ctG>ctA	p.L219L	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	219					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCTCGCCATACAGAACTCCAG	0.557																																																	0								ENSG00000136928						145	125	132					9																	101258770		2203	4300	6503	GABBR2	SO:0001819	synonymous_variant	0			-	HGNC	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.657G>A	9.37:g.101258770C>T		Somatic	0	36	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP							pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.L219	ENST00000259455.2	37	c.657	CCDS6736.1	9																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.557	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	protein_coding	OTTHUMT00000053373.1	C		-		101258770	-1	no_errors	ENST00000259455	ensembl	human	known	74_37	silent	SNP	1.000	T	T	101258770	C	T	101258770	2	4	65	1	0	0	0	0	0	0	0	1	6158	465	17	2		2	GABBR2	9	101258770	Silent	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	33289972	101258770	39954661	23	3561											
ASTN2	23245	genome.wustl.edu	37	chr9	119976716	119976716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctggctgccaaactcGtcctcgcgggagacatggtt	12	13	1	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr9:119976716G>A	ENST00000313400.4	-	3	1036	c.936C>T	c.(934-936)gaC>gaT	p.D312D	ASTN2_ENST00000361209.2_Silent_p.D312D|ASTN2_ENST00000361477.3_De_novo_Start_OutOfFrame|ASTN2_ENST00000373996.3_Silent_p.D312D			O75129	ASTN2_HUMAN	astrotactin 2	312					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGCCAAACTCGTCCTCGCGGG	0.582																																																	0								ENSG00000148219						87	87	87					9																	119976716		2203	4300	6503	ASTN2	SO:0001819	synonymous_variant	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.936C>T	9.37:g.119976716G>A		Somatic	0	111	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	74	42.19	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.D312	ENST00000313400.4	37	c.936		9																																																																																			-	NULL		0.582	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		G	NM_014010	-		119976716	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	silent	SNP	0.576	A	A	119976716	G	A	119976716	2	1	65	1	0	0	0	0	0	0	0	1	1065	1136	40	1		1	ASTN2	9	119976716	Silent	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	18717946	119976716	21236715	24	3562											
LRRC56	115399	genome.wustl.edu	37	chr11	554105	554105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtcctgggcagctggggGcctggcctgggtgatggggt	21	9	0	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr11:554105G>A	ENST00000270115.7	+	14	1958	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	486										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCTGGGGGCCTGGCCTGG	0.697																																																	0								ENSG00000161328						34	40	38					11																	554105		2199	4296	6495	LRRC56	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1458G>A	11.37:g.554105G>A		Somatic	0	65	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	Q8N3Q4	Silent	SNP							NULL	p.G486	ENST00000270115.7	37	c.1458	CCDS7700.1	11																																																																																			-	NULL		0.697	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	protein_coding	OTTHUMT00000254969.1	G	NM_198075	-		554105	1	no_errors	ENST00000270115	ensembl	human	known	74_37	silent	SNP	0.537	A	A	554105	G	A	554105	2	1	65	1	0	0	0	0	0	0	0	1	9014	1190	42	2		2	LRRC56	11	554105	Silent	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		554105	134452411	25	3563											
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546103	65546103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgggtgctgccaggtGtgccagcaggatgtagtaga	15	8	0	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr11:65546103G>A	ENST00000532090.2	-	2	2071	c.1861C>T	c.(1861-1863)Cac>Tac	p.H621Y		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	621					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GCTGCCAGGTGTGCCAGCAGG	0.682																																																	0								ENSG00000254470						9	13	12					11																	65546103		2041	4172	6213	AP5B1	SO:0001583	missense	0			-	HGNC	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1861C>T	11.37:g.65546103G>A	ENSP00000454303:p.His621Tyr	Somatic	0	156	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	94	106	47.00	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP							NULL	p.H621Y	ENST00000532090.2	37	c.1861	CCDS58146.1	11																																																																																			-	NULL		0.682	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	protein_coding	OTTHUMT00000390636.2	G	NM_138368	-		65546103	-1	no_errors	ENST00000532090	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	65546103	G	A	65546103	3	1	65	1	0	0	0	0	1	0	0	0	4545	1377	48	2	779	2	DKFZp761E198	11	65546103	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	64991998	65546103	69460413	26	3564											
PCF11	51585	genome.wustl.edu	37	chr11	82877729	82877729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccaagtctgccaaaagatGgaaatctggttgggaagaaa	11	6	2	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr11:82877729G>T	ENST00000298281.4	+	5	2242	c.1790G>T	c.(1789-1791)tGg>tTg	p.W597L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	597					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCCAAAAGATGGAAATCTGGT	0.348																																																	0								ENSG00000165494						74	76	76					11																	82877729		1751	3825	5576	PCF11	SO:0001583	missense	0			-	HGNC	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1790G>T	11.37:g.82877729G>T	ENSP00000298281:p.Trp597Leu	Somatic	0	130	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	47	53.00	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP							pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.W597L	ENST00000298281.4	37	c.1790	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165027	0.78339	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.73681	0.03;-0.77;-0.5	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000033	T	0.81341	0.4802	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.77688	-0.2494	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	597;597	E9PQ01;O94913	.;PCF11_HUMAN	L	597	ENSP00000298281:W597L;ENSP00000434540:W597L;ENSP00000431567:W597L	.	W	+	2	0	PCF11	82555377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.912000	0.92726	2.885000	0.99019	0.655000	0.94253	TGG	-	NULL		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	protein_coding	OTTHUMT00000392548.2	G	NM_015885	-		82877729	1	no_errors	ENST00000298281	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82877729	G	T	82877729	3	4	65	1	0	0	0	0	1	0	0	0	11575	1357	47	3	1808	3	PCF11	11	82877729	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09	17331626	82877729	52128787	27	3565											
A2M	2	genome.wustl.edu	37	chr12	9229983	9229983	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggcgatggtgatatAggcggagagggtcacttcat	16	6	2	3			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr12:9229983A>C	ENST00000318602.7	-	27	3617	c.3310T>G	c.(3310-3312)Tat>Gat	p.Y1104D	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1104					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ATGGTGATATAGGCGGAGAGG	0.453																																																	0								ENSG00000175899						99	102	101					12																	9229983		2192	4300	6492	A2M	SO:0001583	missense	0			-	HGNC	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3310T>G	12.37:g.9229983A>C	ENSP00000323929:p.Tyr1104Asp	Somatic	0	63	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	5	88.89	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.Y1104D	ENST00000318602.7	37	c.3310	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510490	0.64522	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.42900	0.96	5.86	5.86	0.93980	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	H	0.98577	4.27	0.50313	D	0.999868	D	0.89917	1.0	D	0.97110	1.0	D	0.87298	0.2303	10	0.87932	D	0	.	15.9227	0.79589	1.0:0.0:0.0:0.0	.	1104	P01023	A2MG_HUMAN	D	1104;1119	ENSP00000323929:Y1104D	ENSP00000323929:Y1104D	Y	-	1	0	A2M	9121250	1.000000	0.71417	0.988000	0.46212	0.235000	0.25334	8.240000	0.89813	2.244000	0.73946	0.477000	0.44152	TAT	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	protein_coding	OTTHUMT00000317233.2	A	NM_000014	-		9229983	-1	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	SNP	1.000	C	C	9229983	A	C	9229983	3	2	65	1	0	0	0	0	1	0	0	0	4	420	15	5	1154	5	A2M	12	9229983	Missense_Mutation	SNP	A	TCGA-DX-A48V-01A-11D-A307-09		9229983	124621912	28	3566											
ZNF828	283489	genome.wustl.edu	37	chr13	115090959	115090959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttctccagaagcacgcaaaCgtgccctttttccagagccc	7	16	1	2			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr13:115090959C>G	ENST00000361283.1	+	3	1951	c.1642C>G	c.(1642-1644)Cgt>Ggt	p.R548G		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	548	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGCACGCAAACGTGCCCTTTT	0.527																																																	0								ENSG00000198824						205	233	223					13																	115090959		2203	4300	6503	CHAMP1	SO:0001583	missense	0			-	HGNC	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1642C>G	13.37:g.115090959C>G	ENSP00000354730:p.Arg548Gly	Somatic	0	63	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R548G	ENST00000361283.1	37	c.1642	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034503	0.54896	.	.	ENSG00000198824	ENST00000361283	T	0.01406	4.93	5.59	4.74	0.60224	.	0.115558	0.40222	N	0.001146	T	0.03477	0.0100	L	0.54323	1.7	0.34360	D	0.69083	P	0.51933	0.949	P	0.50896	0.653	T	0.49184	-0.8966	9	.	.	.	-13.3081	13.1983	0.59752	0.0:0.9248:0.0:0.0752	.	548	Q96JM3	ZN828_HUMAN	G	548	ENSP00000354730:R548G	.	R	+	1	0	ZNF828	114109061	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	3.099000	0.50267	2.631000	0.89168	0.650000	0.86243	CGT	-	NULL		0.527	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	protein_coding	OTTHUMT00000045977.2	C	NM_032436	-		115090959	1	no_errors	ENST00000361283	ensembl	human	known	74_37	missense	SNP	0.995	G	G	115090959	C	G	115090959	3	3	65	1	0	0	0	0	1	0	0	0	18188	536	19	4	1644	4	ZNF828	13	115090959	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09		115090959	78919	29	3567											
CAMKK1	84254	genome.wustl.edu	37	chr17	3788691	3788691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcccggggggagatgtgGctggcaggccccgtggcata	19	11	0	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr17:3788691G>T	ENST00000348335.2	-	2	439	c.291C>A	c.(289-291)agC>agA	p.S97R	CAMKK1_ENST00000381771.2_Missense_Mutation_p.S97R|CAMKK1_ENST00000381769.2_Missense_Mutation_p.S124R|CAMKK1_ENST00000158166.5_Missense_Mutation_p.S97R	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	97					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)		GGGAGATGTGGCTGGCAGGCC	0.662																																																	0								ENSG00000004660						14	18	16					17																	3788691		2185	4266	6451	CAMKK1	SO:0001583	missense	0			-	HGNC	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.291C>A	17.37:g.3788691G>T	ENSP00000323118:p.Ser97Arg	Somatic	0	185	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	97	19	83.62	Q9BQH3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S97R	ENST00000348335.2	37	c.291	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595091	0.28445	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.74002	-0.45;-0.43;-0.8;-0.8	5.42	3.42	0.39159	.	0.333481	0.30930	N	0.008586	T	0.53481	0.1799	L	0.29908	0.895	0.43226	D	0.995117	B;B	0.33345	0.409;0.025	B;B	0.28553	0.091;0.025	T	0.39292	-0.9621	10	0.18276	T	0.48	-22.5228	4.7476	0.13045	0.1841:0.0:0.6446:0.1712	.	97;97	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	R	124;97;97;97	ENSP00000371188:S124R;ENSP00000323118:S97R;ENSP00000371190:S97R;ENSP00000158166:S97R	ENSP00000158166:S97R	S	-	3	2	CAMKK1	3735440	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.457000	0.21875	0.657000	0.30906	0.491000	0.48974	AGC	-	NULL		0.662	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	protein_coding	OTTHUMT00000207456.1	G	NM_032294, NM_172206, NM_172207	-		3788691	-1	no_errors	ENST00000381771	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3788691	G	T	3788691	3	4	65	1	0	0	0	0	1	0	0	0	2608	1194	42	3	1408	3	CAMKK1	17	3788691	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		3788691	77406519	30	3568											
TP53	7157	genome.wustl.edu	37	chr17	7576852	7576852	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcccaagacttagtaCctgaagggtgaaatattctc	10	8	1	4	rs11575997		TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr17:7576852C>A	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	GRCh37	CD002536	TP53	D	rs11575997	ENSG00000141510						115	108	111					17																	7576852		2203	4300	6503	TP53	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;	-	HGNC	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.993+1G>T	17.37:g.7576852C>A		Somatic	0	131	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	91	7	92.86	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							-	e8+1	ENST00000269305.4	37	c.993+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301218	0.40694	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	rs11575997	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.	-	-		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs11575997	Intron	7576852	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	7576852	C	A	7576852	5	1	65	1	0	0	0	0	0	0	1	0	16388	521	18	3	288	3	TP53	17	7576852	Splice_Site	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	3788161	7576852	73618358	31	3569											
TLK2	11011	genome.wustl.edu	37	chr17	60631103	60631142	+	Splice_Site	DEL	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	-													gaagaaggagggaagaatagAtgatttattaagagtaagta							TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr17:60631103_60631142delATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	ENST00000326270.9	+	9	975_988	c.707_720delATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	c.(706-720)gatgatttattaaga>g	p.DDLLR236fs	TLK2_ENST00000582809.1_Splice_Site_p.DDLLR87fs|RP11-464D20.6_ENST00000583426.1_RNA|TLK2_ENST00000542523.1_Splice_Site_p.DDLLR204fs|TLK2_ENST00000346027.5_Splice_Site_p.DDLLR236fs|TLK2_ENST00000343388.7_Splice_Site_p.DDLLR204fs	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	236					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GGAAGAATAGATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTTATAGCAAGCA	0.283																																																	0								ENSG00000146872																																			TLK2	SO:0001630	splice_region_variant	0				HGNC	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.720+1ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT>-	17.37:g.60631103_60631142delATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT		Somatic					0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DU07|Q9UKI7|Q9Y4F7	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D236fs	ENST00000326270.9	37	c.707_720		17																																																																																			-	NULL		0.283	TLK2-004	KNOWN	basic	protein_coding	TLK2	protein_coding	OTTHUMT00000445140.1	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	NM_006852		Frame_Shift_Del	60631142	1	no_errors	ENST00000326270	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:0.999:1.000:1.000:1.000:1.000:1.000	-	-	60631142	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	-	60631103	8	5	65	1	0	1	0	1	0	0	1	0	15951	333	12	0	737	0	TLK2	17	60631103	Splice_Site	DEL	ATGATTTATTAAGAGTAAGTATTAAAATGTAAGAGATTTT	TCGA-DX-A48V-01A-11D-A307-09	53054251	60631103	20564107	32	3570											
PTPRM	5797	genome.wustl.edu	37	chr18	8380421	8380421	+	Missense_Mutation	SNP	C	C	T													gctaaatgatgtggatcctgCccaggtgagacccggacttc							TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr18:8380421C>T	ENST00000332175.8	+	27	4912	c.3875C>T	c.(3874-3876)gCc>gTc	p.A1292V	PTPRM_ENST00000580170.1_Missense_Mutation_p.A1305V|PTPRM_ENST00000400053.4_Missense_Mutation_p.A1230V|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1079V|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1306V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1292	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGGATCCTGCCCAGGTGAGA	0.488																																																	0								ENSG00000173482						102	92	95					18																	8380421		2203	4300	6503	PTPRM	SO:0001583	missense	0			-	HGNC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3875C>T	18.37:g.8380421C>T	ENSP00000331418:p.Ala1292Val	Somatic	0	100	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	67	40.18	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A1306V	ENST00000332175.8	37	c.3917	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741391	0.89573	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.49	5.49	0.81192	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.058646	0.64402	D	0.000002	T	0.30355	0.0762	L	0.41356	1.27	0.80722	D	1	B;D;D	0.69078	0.443;0.992;0.997	B;P;D	0.71414	0.425;0.87;0.973	T	0.00542	-1.1680	10	0.41790	T	0.15	.	19.3775	0.94517	0.0:1.0:0.0:0.0	.	1079;1305;1292	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	V	1292;1306;1230;1079	ENSP00000331418:A1292V;ENSP00000382933:A1306V;ENSP00000382927:A1230V;ENSP00000387608:A1079V	ENSP00000331418:A1292V	A	+	2	0	PTPRM	8370421	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.920000	0.70017	2.588000	0.87417	0.467000	0.42956	GCC	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.488	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	C		-		8380421	1	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8380421	C	T	8380421	3	4	65	1	0	0	0	0	1	0	0	0	12814	739	26	2	4028	2	PTPRM	18	8380421	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09		8380421	69696827	33	3571	50	2									
PTPRM	5797	genome.wustl.edu	37	chr18	8380423	8380423	+	Nonsense_Mutation	SNP	C	C	T													taaatgatgtggatcctgccCaggtgagacccggacttctt							TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr18:8380423C>T	ENST00000332175.8	+	27	4914	c.3877C>T	c.(3877-3879)Cag>Tag	p.Q1293*	PTPRM_ENST00000580170.1_Nonsense_Mutation_p.Q1306*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.Q1231*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.Q1080*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.Q1307*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1293	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q1293*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGATCCTGCCCAGGTGAGACC	0.493																																																	1	Substitution - Nonsense(1)	kidney(1)						ENSG00000173482						101	90	94					18																	8380423		2203	4300	6503	PTPRM	SO:0001587	stop_gained	0			-	HGNC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3877C>T	18.37:g.8380423C>T	ENSP00000331418:p.Gln1293*	Somatic	0	99	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	69	38.39	A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Q1307*	ENST00000332175.8	37	c.3919	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	50	17.020914	0.99877	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3775	0.94517	0.0:1.0:0.0:0.0	.	.	.	.	X	1293;1307;1231;1080	.	ENSP00000331418:Q1293X	Q	+	1	0	PTPRM	8370423	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.920000	0.70017	2.588000	0.87417	0.467000	0.42956	CAG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.493	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	C		-		8380423	1	no_errors	ENST00000400060	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	8380423	C	T	8380423	4	4	65	1	0	0	0	0	0	1	0	0	12814	595	21	2	4030	2	PTPRM	18	8380423	Nonsense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	2	8380423	69696825	34	3572	50	2									
CDH7	1005	genome.wustl.edu	37	chr18	63547710	63547710	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgacgaagaaagagacatCagagaaaatattgtgagata	10	3	1	5	rs115462274		TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr18:63547710C>T	ENST00000397968.2	+	12	2364	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CDH7_ENST00000323011.3_Silent_p.I646I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	646					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAAGAGACATCAGAGAAAATA	0.458																																																	0								ENSG00000081138						65	67	67					18																	63547710		2203	4300	6503	CDH7	SO:0001819	synonymous_variant	0			-	HGNC	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1938C>T	18.37:g.63547710C>T		Somatic	0	86	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	99	10.00	Q9H157	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I646	ENST00000397968.2	37	c.1938	CCDS11993.1	18																																																																																			-	pfam_Cadherin_cytoplasmic-dom		0.458	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	protein_coding	OTTHUMT00000256217.2	C	NM_033646	-		63547710	1	no_errors	ENST00000323011	ensembl	human	known	74_37	silent	SNP	0.998	T	T	63547710	C	T	63547710	2	4	65	1	0	0	0	0	0	0	0	1	3117	816	29	2		2	CDH7	18	63547710	Silent	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	55167287	63547710	14529538	35	3573											
PRODH2	58510	genome.wustl.edu	37	chr19	36293961	36293961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgtgcgtcagcatcaGttccaggcagcggctgtaac	13	13	2	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr19:36293961G>T	ENST00000301175.3	-	9	1266	c.1249C>A	c.(1249-1251)Ctg>Atg	p.L417M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	417					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			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)			GTCAGCATCAGTTCCAGGCAG	0.617																																																	0								ENSG00000250799						37	26	30					19																	36293961		2196	4291	6487	PRODH2	SO:0001583	missense	0			-	HGNC	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.1249C>A	19.37:g.36293961G>T	ENSP00000301175:p.Leu417Met	Somatic	0	64	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	7	81.08		Missense_Mutation	SNP							pfam_Proline_DH	p.L417M	ENST00000301175.3	37	c.1249	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836786	0.32421	.	.	ENSG00000250799	ENST00000301175	T	0.32753	1.44	5.55	3.45	0.39498	Proline dehydrogenase (1);	.	.	.	.	T	0.23766	0.0575	L	0.39326	1.205	0.80722	D	1	B	0.30146	0.27	B	0.31812	0.136	T	0.03840	-1.0999	9	0.29301	T	0.29	.	8.4807	0.33040	0.1589:0.0:0.8411:0.0	.	417	Q9UF12	PROD2_HUMAN	M	417	ENSP00000301175:L417M	ENSP00000301175:L417M	L	-	1	2	PRODH2	40985801	0.736000	0.28164	1.000000	0.80357	0.949000	0.60115	0.567000	0.23608	0.915000	0.36847	0.655000	0.94253	CTG	-	pfam_Proline_DH		0.617	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	protein_coding	OTTHUMT00000452552.2	G	NM_021232	-		36293961	-1	no_errors	ENST00000301175	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36293961	G	T	36293961	3	4	65	1	0	0	0	0	1	0	0	0	12554	1020	36	3	373	3	PRODH2	19	36293961	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		36293961	22835022	36	3574											
TPTE	7179	genome.wustl.edu	37	chr21	10951356	10951356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccaaaggaatataaagtTtgctgtcagtgaaaattagg	9	5	1	1			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr21:10951356T>G	ENST00000361285.4	-	10	685	c.356A>C	c.(355-357)aAa>aCa	p.K119T	TPTE_ENST00000342420.5_Missense_Mutation_p.K81T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.K101T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	119					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AATATAAAGTTTGCTGTCAGT	0.323																																																	0								ENSG00000166157						110	118	116					21																	10951356		2203	4297	6500	TPTE	SO:0001583	missense	0			-	HGNC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.356A>C	21.37:g.10951356T>G	ENSP00000355208:p.Lys119Thr	Somatic	1	717	0.14		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	957	10.12	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K119T	ENST00000361285.4	37	c.356	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613816	0.03690	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97404	-4.37;-4.37;-4.37	1.8	-3.6	0.04570	.	0.528264	0.20609	N	0.089019	D	0.89736	0.6801	N	0.16903	0.455	0.09310	N	1	B;B;B	0.19445	0.035;0.035;0.036	B;B;B	0.23574	0.047;0.047;0.021	T	0.80195	-0.1483	10	0.29301	T	0.29	0.008	4.7888	0.13238	0.0:0.1732:0.2583:0.5685	.	81;101;119	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	101;119;81;101	ENSP00000298232:K101T;ENSP00000355208:K119T;ENSP00000344441:K81T	ENSP00000298232:K101T	K	-	2	0	TPTE	9973227	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.215000	0.09279	-1.486000	0.01851	0.163000	0.16589	AAA	-	NULL		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	T		-		10951356	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	SNP	0.000	G	G	10951356	T	G	10951356	3	3	65	1	0	0	0	0	1	0	0	0	16437	1841	64	5	1359	5	TPTE	21	10951356	Missense_Mutation	SNP	T	TCGA-DX-A48V-01A-11D-A307-09		10951356	37178539	37	3575											
CCDC134	79879	genome.wustl.edu	37	chr22	42205936	42205936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgttggcactgaagaacCtggcacagctgaacgacatc	11	11	0	3			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chr22:42205936C>T	ENST00000255784.5	+	3	261	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	CCDC134_ENST00000402061.3_Silent_p.L53L	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	53						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						ACTGAAGAACCTGGCACAGCT	0.547																																																	0								ENSG00000100147						79	68	72					22																	42205936		2203	4300	6503	CCDC134	SO:0001819	synonymous_variant	0			-	HGNC	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.157C>T	22.37:g.42205936C>T		Somatic	0	129	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	72	38.46		Silent	SNP							NULL	p.L53	ENST00000255784.5	37	c.157	CCDS33654.1	22																																																																																			-	NULL		0.547	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	protein_coding	OTTHUMT00000321964.1	C	NM_024821	-		42205936	1	no_errors	ENST00000255784	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42205936	C	T	42205936	2	4	65	1	0	0	0	0	0	0	0	1	2770	680	24	2		2	CCDC134	22	42205936	Silent	SNP	C	TCGA-DX-A48V-01A-11D-A307-09		42205936	9098630	38	3576											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765399	27765399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggaggggaggaggaggaAgaggaggaggaggaggagga	27	0	0	1	rs371896121		TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chrX:27765399A>G	ENST00000451261.2	+	5	786	c.387A>G	c.(385-387)gaA>gaG	p.E129E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	129	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaagaggaggagg	0.572																																																	0								ENSG00000189186						24	21	22					X																	27765399		692	1589	2281	DCAF8L2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.387A>G	X.37:g.27765399A>G		Somatic	0	20	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	25.00	B2RXH9|J3KT06	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E129	ENST00000451261.2	37	c.387	CCDS59162.1	X																																																																																			-	NULL		0.572	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	A	XM_293354	-		27765399	1	no_errors	ENST00000451261	ensembl	human	known	74_37	silent	SNP	0.009	G	G	27765399	A	G	27765399	2	3	65	1	0	0	0	0	0	0	0	1	4280	69	3	5		5	DCAF8L2	23	27765399	Silent	SNP	A	TCGA-DX-A48V-01A-11D-A307-09		27765399	127505161	39	3577											
MAGEB2	4113	genome.wustl.edu	37	chrX	30236779	30236779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacccggggtctcaatgttCctcaggtcactgaagcagag	12	11	3	3			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chrX:30236779C>T	ENST00000378988.4	+	2	183	c.82C>T	c.(82-84)Cct>Tct	p.P28S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	28										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCTCAATGTTCCTCAGGTCAC	0.582																																																	0								ENSG00000099399						38	36	37					X																	30236779		2202	4300	6502	MAGEB2	SO:0001583	missense	0			-	HGNC	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.82C>T	X.37:g.30236779C>T	ENSP00000368273:p.Pro28Ser	Somatic	0	72	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	8	90.11	O75860	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P28S	ENST00000378988.4	37	c.82	CCDS14219.1	X	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043323	0.19748	.	.	ENSG00000099399	ENST00000378988	T	0.03951	3.75	3.43	1.6	0.23607	Melanoma associated antigen, MAGE, N-terminal (1);	0.610551	0.15506	N	0.258780	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	B	0.28350	0.208	B	0.30251	0.113	T	0.41448	-0.9508	10	0.52906	T	0.07	.	3.7237	0.08466	0.1583:0.2743:0.5674:0.0	.	28	O15479	MAGB2_HUMAN	S	28	ENSP00000368273:P28S	ENSP00000368273:P28S	P	+	1	0	MAGEB2	30146700	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.395000	0.20850	0.297000	0.22615	-0.384000	0.06662	CCT	-	pfam_Melanoma_ass_antigen_N		0.582	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	protein_coding	OTTHUMT00000056157.1	C	NM_002364	-		30236779	1	no_errors	ENST00000378988	ensembl	human	known	74_37	missense	SNP	0.003	T	T	30236779	C	T	30236779	3	4	65	1	0	0	0	0	1	0	0	0	9178	855	30	2	84	2	MAGEB2	23	30236779	Missense_Mutation	SNP	C	TCGA-DX-A48V-01A-11D-A307-09	2471380	30236779	125033781	40	3578											
TSPY1	7258	genome.wustl.edu	37	chrY	9304680	9304680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttctgtggcgtgggtcGggcagcacaggccttggtgt	19	8	1	0			TCGA-DX-A48V-01A-11D-A307-09	TCGA-DX-A48V-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da538815-9376-42e8-a240-698c84a0b9ff	0592a9f9-dc45-4eb6-88d6-5fb679f03b4c	g.chrY:9304680G>A	ENST00000451548.1	+	1	117	c.71G>A	c.(70-72)cGg>cAg	p.R24Q	AC006156.1_ENST00000450145.1_Intron|AC006156.1_ENST00000423213.1_Intron|TSPY1_ENST00000423647.2_Intron|TSPY3_ENST00000440483.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	24					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(4)	4						GGCGTGGGTCGGGCAGCACAG	0.706																																																	0								ENSG00000258992						1	1	1					Y																	9304680		9	17	26	TSPY1	SO:0001583	missense	0			-	HGNC		CCDS48205.1, CCDS76071.1	Yp11.2	2009-08-06	2004-04-05	2004-04-07					12381	protein-coding gene	gene with protein product	"cancer/testis antigen 78"	480100	"testis specific protein, Y-linked"	TSPY			Standard	NM_003308		Approved	CT78	uc004frw.4	Q01534		ENST00000451548.1:c.71G>A	Y.37:g.9304680G>A	ENSP00000403304:p.Arg24Gln	Somatic	0	299	0		0.596464803265561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	276	10.39	A6NJD2|O00216|P09002|Q0VAD3|Q9UNN7	Missense_Mutation	SNP							pfam_NAP_family	p.R24Q	ENST00000451548.1	37	c.71	CCDS48205.1	Y																																																																																			-	NULL		0.706	TSPY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSPY1	protein_coding	OTTHUMT00000413463.1	G	NM_003308	-		9304680	1	no_errors	ENST00000451548	ensembl	human	known	74_37	missense	SNP	0.998	A	A	9304680	G	A	9304680	3	1	65	1	0	0	0	0	1	0	0	0	16664	1116	39	1	73	1	TSPY1	24	9304680	Missense_Mutation	SNP	G	TCGA-DX-A48V-01A-11D-A307-09		9304680	50068886	41	3579											
CCDC21	64793	genome.wustl.edu	37	chr1	26603636	26603636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagcagcacagcaccCagagactcagctagatttgc	8	16	1	2			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:26603636C>A	ENST00000252992.4	+	14	2272	c.2141C>A	c.(2140-2142)cCa>cAa	p.P714Q	CEP85_ENST00000451429.2_Missense_Mutation_p.P663Q|CEP85_ENST00000469609.1_3'UTR|SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	714						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCACAGCACCCAGAGACTCAG	0.468																																																	0								ENSG00000130695						190	185	187					1																	26603636		2203	4300	6503	CEP85	SO:0001583	missense	0			-	HGNC	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2141C>A	1.37:g.26603636C>A	ENSP00000252992:p.Pro714Gln	Somatic	0	37	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP							NULL	p.P714Q	ENST00000252992.4	37	c.2141	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.492996|2.492996	0.44352|0.44352	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11063|.	2.81;2.81|.	5.92|5.92	4.02|4.02	0.46733|0.46733	.|.	0.442609|.	0.26092|.	N|.	0.026393|.	T|T	0.41789|0.41789	0.1174|0.1174	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;D;P|.	0.54397|.	0.928;0.966;0.928|.	P;P;P|.	0.53593|.	0.543;0.648;0.73|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.27082|.	T|.	0.32|.	-3.3649|-3.3649	9.1051|9.1051	0.36692|0.36692	0.1471:0.7797:0.0:0.0731|0.1471:0.7797:0.0:0.0731	.|.	663;714;713|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	Q|K	663;714|387	ENSP00000417002:P663Q;ENSP00000252992:P714Q|.	ENSP00000252992:P714Q|.	P|Q	+|+	2|1	0|0	CEP85|CEP85	26476223|26476223	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.303000|0.303000	0.27691|0.27691	1.387000|1.387000	0.34430|0.34430	1.474000|1.474000	0.48178|0.48178	0.561000|0.561000	0.74099|0.74099	CCA|CAG	-	NULL		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	protein_coding	OTTHUMT00000009492.2	C	NM_022778	-		26603636	1	no_errors	ENST00000252992	ensembl	human	known	74_37	missense	SNP	0.113	A	A	26603636	C	A	26603636	3	1	66	1	0	0	0	0	1	0	0	0	2798	594	21	3	2191	3	CCDC21	1	26603636	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09		26603636	222646985	1	3580											
BARHL2	343472	genome.wustl.edu	37	chr1	91180171	91180171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgatcctgcacgctcagGtacttctgccgctcaaagct	9	14	3	0	rs371535178		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:91180171G>A	ENST00000370445.4	-	2	809	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	256					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCACGCTCAGGTACTTCTGCC	0.562																																					GBM(199;3561 4100 22440)												0								ENSG00000143032	G		0,4406		0,0,2203	168	152	157		768	3.6	1	1		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BARHL2	NM_020063.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		256/388	91180171	1,13005	2203	4300	6503	BARHL2	SO:0001819	synonymous_variant	0			-	HGNC	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.768C>T	1.37:g.91180171G>A		Somatic	0	75	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	A0AVP2|Q7Z4N7	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Y256	ENST00000370445.4	37	c.768	CCDS730.1	1																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.562	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	protein_coding	OTTHUMT00000027728.2	G		-		91180171	-1	no_errors	ENST00000370445	ensembl	human	known	74_37	silent	SNP	1.000	A	A	91180171	G	A	91180171	2	1	66	1	0	0	0	0	0	0	0	1	1314	1256	44	2		2	BARHL2	1	91180171	Silent	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	64576535	91180171	158070450	2	3581											
HIPK1	204851	genome.wustl.edu	37	chr1	114512653	114512653	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagactctgactcttctttGagcagcccttattccactga	6	14	3	4			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:114512653G>C	ENST00000369558.1	+	14	3079	c.2847G>C	c.(2845-2847)ttG>ttC	p.L949F	HIPK1_ENST00000340480.4_Missense_Mutation_p.L575F|HIPK1_ENST00000426820.2_Missense_Mutation_p.L949F|HIPK1_ENST00000369561.4_Missense_Mutation_p.L915F|HIPK1_ENST00000369554.2_Missense_Mutation_p.L904F|HIPK1_ENST00000369559.4_Missense_Mutation_p.L949F|HIPK1_ENST00000369553.1_Missense_Mutation_p.L555F|HIPK1_ENST00000369555.2_Missense_Mutation_p.L904F|HIPK1_ENST00000406344.1_Missense_Mutation_p.L555F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	949	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		ACTCTTCTTTGAGCAGCCCTT	0.488																																																	0								ENSG00000163349						188	194	192					1																	114512653		2203	4300	6503	HIPK1	SO:0001583	missense	0			-	HGNC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2847G>C	1.37:g.114512653G>C	ENSP00000358571:p.Leu949Phe	Somatic	0	79	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	56	37.08	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L949F	ENST00000369558.1	37	c.2847	CCDS867.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.00|14.00	2.406165|2.406165	0.42715|0.42715	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000361587|ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.|T;T;T;T;T;T;T;T;T;T	.|0.24908	.|1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.230505	.|0.30329	.|N	.|0.009871	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.22421|0.22421	0.69|0.69	0.48452|0.48452	D|D	0.999658|0.999658	.|P;P;B;P	.|0.47034	.|0.889;0.812;0.435;0.703	.|P;B;B;B	.|0.46585	.|0.521;0.424;0.221;0.395	T|T	0.02789|0.02789	-1.1110|-1.1110	5|10	.|0.09590	.|T	.|0.72	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|241;555;949;949	.|E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.|.;.;HIPK1_HUMAN;.	Q|F	230|1020;949;949;904;904;949;915;575;555;555	.|ENSP00000407442:L1020F;ENSP00000358572:L949F;ENSP00000409673:L949F;ENSP00000358567:L904F;ENSP00000358568:L904F;ENSP00000358571:L949F;ENSP00000358574:L915F;ENSP00000340956:L575F;ENSP00000358566:L555F;ENSP00000384960:L555F	.|ENSP00000340956:L575F	E|L	+|+	1|3	0|2	HIPK1|HIPK1	114314176|114314176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.766000|3.766000	0.55280|0.55280	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAG|TTG	-	NULL		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	protein_coding	OTTHUMT00000033127.1	G	NM_198268	-		114512653	1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	SNP	1.000	C	C	114512653	G	C	114512653	3	2	66	1	0	0	0	0	1	0	0	0	7118	1281	45	4	2915	4	HIPK1	1	114512653	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	23332482	114512653	134737968	3	3582											
HIPK1	204851	genome.wustl.edu	37	chr1	114515911	114515911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttttctccccacaggGttcctcaaggcatgctgcag	8	14	4	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr1:114515911G>A	ENST00000369558.1	+	16	3642	c.3410G>A	c.(3409-3411)gGt>gAt	p.G1137D	HIPK1_ENST00000340480.4_Missense_Mutation_p.G763D|HIPK1_ENST00000426820.2_Missense_Mutation_p.G1137D|HIPK1_ENST00000369561.4_Missense_Mutation_p.G1103D|HIPK1_ENST00000369554.2_Missense_Mutation_p.G1092D|HIPK1_ENST00000369553.1_Missense_Mutation_p.G743D|HIPK1_ENST00000369555.2_Missense_Mutation_p.G1092D|HIPK1_ENST00000406344.1_Missense_Mutation_p.G743D			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1137					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		TCCCCACAGGGTTCCTCAAGG	0.582																																																	0								ENSG00000163349						185	152	163					1																	114515911		2203	4300	6503	HIPK1	SO:0001583	missense	0			-	HGNC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3410G>A	1.37:g.114515911G>A	ENSP00000358571:p.Gly1137Asp	Somatic	0	34	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1137D	ENST00000369558.1	37	c.3410	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315087	0.81358	.	.	ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.38;0.34;0.34;0.38;0.33;3.39;2.48;2.48	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.67524	0.2902	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.995;0.998	T	0.63088	-0.6715	10	0.40728	T	0.16	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	429;743;1137	E9PCF6;Q86Z02-4;Q86Z02	.;.;HIPK1_HUMAN	D	1208;1137;1092;1092;1137;1103;763;743;743	ENSP00000407442:G1208D;ENSP00000409673:G1137D;ENSP00000358567:G1092D;ENSP00000358568:G1092D;ENSP00000358571:G1137D;ENSP00000358574:G1103D;ENSP00000340956:G763D;ENSP00000358566:G743D;ENSP00000384960:G743D	ENSP00000340956:G763D	G	+	2	0	HIPK1	114317434	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.601000	0.82783	2.752000	0.94435	0.655000	0.94253	GGT	-	NULL		0.582	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	protein_coding	OTTHUMT00000033127.1	G	NM_198268	-		114515911	1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114515911	G	A	114515911	3	1	66	1	0	0	0	0	1	0	0	0	7118	1261	44	2	3570	2	HIPK1	1	114515911	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	3258	114515911	134734710	4	3583											
SCN2A	6326	genome.wustl.edu	37	chr2	166187935	166187935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaccatggttaaaggtgAaacaccttgtcaacctggtt	9	8	1	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr2:166187935A>G	ENST00000375437.2	+	14	2535	c.2245A>G	c.(2245-2247)Aaa>Gaa	p.K749E	SCN2A_ENST00000283256.6_Missense_Mutation_p.K749E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K749E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K749E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	749					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTAAAGGTGAAACACCTTGT	0.418																																																	0								ENSG00000136531						194	168	177					2																	166187935		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2245A>G	2.37:g.166187935A>G	ENSP00000364586:p.Lys749Glu	Somatic	0	71	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	50	41.86	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K749E	ENST00000375437.2	37	c.2245	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.847885	0.91277	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.87180	2.865	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	D;D	0.79784	0.974;0.993	D	0.99342	1.0912	10	0.87932	D	0	.	15.6948	0.77488	1.0:0.0:0.0:0.0	.	749;749	Q99250-2;Q99250	.;SCN2A_HUMAN	E	749	ENSP00000364586:K749E;ENSP00000349973:K749E;ENSP00000283256:K749E;ENSP00000364576:K749E	ENSP00000283256:K749E	K	+	1	0	SCN2A	165896181	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.114000	0.64651	0.477000	0.44152	AAA	-	NULL		0.418	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	A	NM_021007	-		166187935	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	G	G	166187935	A	G	166187935	3	3	66	1	0	0	0	0	1	0	0	0	13924	247	9	5	2391	5	SCN2A	2	166187935	Missense_Mutation	SNP	A	TCGA-DX-A6B7-01A-11D-A307-09		166187935	77011438	5	3584											
FZD5	7855	genome.wustl.edu	37	chr2	208632893	208632893	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagggctcgcgacactTgcacacgaacgggcccccag	12	16	0	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr2:208632893T>A	ENST00000295417.3	-	2	1124	c.571A>T	c.(571-573)Aag>Tag	p.K191*		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	191					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TCGCGACACTTGCACACGAAC	0.706																																																	0								ENSG00000163251						21	23	22					2																	208632893		2200	4298	6498	FZD5	SO:0001587	stop_gained	0			-	HGNC	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.571A>T	2.37:g.208632893T>A	ENSP00000354607:p.Lys191*	Somatic	0	53	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	A8K2X1|B2RCZ1|Q53R22	Nonsense_Mutation	SNP							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.K191*	ENST00000295417.3	37	c.571	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	T	40	8.311456	0.98754	.	.	ENSG00000163251	ENST00000295417	.	.	.	4.68	3.49	0.39957	.	0.633028	0.14883	N	0.292824	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6576	0.34073	0.0:0.1556:0.0:0.8444	.	.	.	.	X	191	.	ENSP00000354607:K191X	K	-	1	0	FZD5	208341138	0.985000	0.35326	1.000000	0.80357	0.807000	0.45602	0.737000	0.26144	1.973000	0.57446	0.459000	0.35465	AAG	-	NULL		0.706	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	protein_coding	OTTHUMT00000337060.1	T	NM_003468	-		208632893	-1	no_errors	ENST00000295417	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	208632893	T	A	208632893	4	1	66	1	0	0	0	0	0	1	0	0	6135	1821	63	5	1190	5	FZD5	2	208632893	Nonsense_Mutation	SNP	T	TCGA-DX-A6B7-01A-11D-A307-09	42444958	208632893	34566480	6	3585											
RBM6	10180	genome.wustl.edu	37	chr3	50005514	50005514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattttaggaatagagAtgtatctgatttggacttta	9	3	2	3			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr3:50005514A>C	ENST00000266022.4	+	3	915	c.656A>C	c.(655-657)gAt>gCt	p.D219A	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D87A	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	219					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAATAGAGATGTATCTGAT	0.448																																																	0								ENSG00000004534						68	69	69					3																	50005514		2203	4300	6503	RBM6	SO:0001583	missense	0			-	HGNC	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.656A>C	3.37:g.50005514A>C	ENSP00000266022:p.Asp219Ala	Somatic	0	39	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	O60549|O75524|Q86SS3	Missense_Mutation	SNP							pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D219A	ENST00000266022.4	37	c.656	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699880	0.30142	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.34667	1.38;1.35	6.04	6.04	0.98038	.	0.214672	0.37437	N	0.002085	T	0.31327	0.0793	L	0.36672	1.1	0.80722	D	1	B	0.16603	0.018	B	0.18263	0.021	T	0.06770	-1.0808	9	.	.	.	-11.1019	16.5763	0.84648	1.0:0.0:0.0:0.0	.	219	P78332	RBM6_HUMAN	A	219;87	ENSP00000266022:D219A;ENSP00000396466:D87A	.	D	+	2	0	RBM6	49980518	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.804000	0.69135	2.317000	0.78254	0.459000	0.35465	GAT	-	NULL		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	protein_coding	OTTHUMT00000345528.4	A	NM_005777	-		50005514	1	no_errors	ENST00000266022	ensembl	human	known	74_37	missense	SNP	0.978	C	C	50005514	A	C	50005514	3	2	66	1	0	0	0	0	1	0	0	0	13152	333	12	5	662	5	RBM6	3	50005514	Missense_Mutation	SNP	A	TCGA-DX-A6B7-01A-11D-A307-09		50005514	148016916	7	3586											
RXFP3	51289	genome.wustl.edu	37	chr5	33937261	33937261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccctgcccttctgggCggtggagaacgctcttgact	12	14	3	2			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr5:33937261C>T	ENST00000330120.3	+	1	771	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	139					G-protein coupled receptor signaling pathway (GO:0007186)|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)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCCTTCTGGGCGGTGGAGAAC	0.552																																																	0								ENSG00000182631						136	123	127					5																	33937261		2203	4300	6503	RXFP3	SO:0001583	missense	0			-	HGNC	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.416C>T	5.37:g.33937261C>T	ENSP00000328708:p.Ala139Val	Somatic	0	46	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	21	46.15	Q14DA5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.A139V	ENST00000330120.3	37	c.416	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.269589	0.95429	.	.	ENSG00000182631	ENST00000330120	T	0.18338	2.22	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.052019	0.85682	N	0.000000	T	0.38026	0.1025	L	0.45422	1.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.04811	-1.0925	10	0.87932	D	0	-26.0635	19.8764	0.96873	0.0:1.0:0.0:0.0	.	139	Q9NSD7	RL3R1_HUMAN	V	139	ENSP00000328708:A139V	ENSP00000328708:A139V	A	+	2	0	RXFP3	33973018	1.000000	0.71417	0.960000	0.40013	0.982000	0.71751	4.902000	0.63266	2.700000	0.92200	0.650000	0.86243	GCG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt		0.552	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	protein_coding	OTTHUMT00000207369.1	C	NM_016568	-		33937261	1	no_errors	ENST00000330120	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33937261	C	T	33937261	3	4	66	1	0	0	0	0	1	0	0	0	13769	768	27	1	418	1	RXFP3	5	33937261	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09		33937261	146977999	8	3587											
GRIA1	2890	genome.wustl.edu	37	chr5	152873487	152873487	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcattttcttttctcataGggggattatttccaaaccag	7	8	2	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr5:152873487G>A	ENST00000285900.5	+	2	425		c.e2-1		GRIA1_ENST00000518862.1_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000448073.4_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTTCTCATAGGGGGATTATT	0.463																																																	0								ENSG00000155511						109	107	107					5																	152873487		2203	4300	6503	GRIA1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.83-1G>A	5.37:g.152873487G>A		Somatic	0	49	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Splice_Site	SNP							-	e2-1	ENST00000285900.5	37	c.113-1	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825867	0.50739	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3214	0.90239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA1	152853680	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	7.604000	0.82830	2.548000	0.85928	0.655000	0.94253	.	-	-		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	G		-	Intron	152873487	1	no_errors	ENST00000448073	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	152873487	G	A	152873487	5	1	66	1	0	0	0	0	0	0	1	0	6769	1014	35	2	88	2	GRIA1	5	152873487	Splice_Site	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	118936226	152873487	28041773	9	3588											
RIOK1	83732	genome.wustl.edu	37	chr6	7405562	7405562	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatccatccattacacatGagaacatggatgcttatctc	6	11	1	2			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:7405562G>T	ENST00000379834.2	+	12	1684	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	393	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CATTACACATGAGAACATGGA	0.433																																																	0								ENSG00000124784						86	72	76					6																	7405562		2203	4300	6503	RIOK1	SO:0001587	stop_gained	0			-	HGNC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1177G>T	6.37:g.7405562G>T	ENSP00000369162:p.Glu393*	Somatic	0	36	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B2RB28|Q8NDC8|Q96NV9	Nonsense_Mutation	SNP							pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.E393*	ENST00000379834.2	37	c.1177	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.294451	0.99128	.	.	ENSG00000124784	ENST00000379834	.	.	.	5.57	5.57	0.84162	.	0.374342	0.31472	N	0.007582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-19.0914	18.5311	0.90992	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000369162:E393X	E	+	1	0	RIOK1	7350561	1.000000	0.71417	0.950000	0.38849	0.961000	0.63080	3.203000	0.51075	2.615000	0.88500	0.557000	0.71058	GAG	-	pirsf_Ser/Thr_kinase_Rio1		0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	protein_coding	OTTHUMT00000039780.2	G	NM_031480	-		7405562	1	no_errors	ENST00000379834	ensembl	human	known	74_37	nonsense	SNP	0.991	T	T	7405562	G	T	7405562	4	4	66	1	0	0	0	0	0	1	0	0	13385	1291	45	3	1223	3	RIOK1	6	7405562	Nonsense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		7405562	163709505	10	3589											
ACOT13	55856	genome.wustl.edu	37	chr6	24687908	24687908	+	Intron	DEL	A	A	-													aaagcatgtaaagaagacagAaatggttagaaaggtaagaa							TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:24687908delA	ENST00000230048.4	+	2	274				ACOT13_ENST00000537591.1_5'UTR|ACOT13_ENST00000476436.1_3'UTR	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13						metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						AAGAAGACAGAAATGGTTAGA	0.363																																																	0								ENSG00000112304						187	171	176					6																	24687908		692	1591	2283	ACOT13	SO:0001627	intron_variant	0				HGNC	AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"Acyl CoA thioesterases"	20999	protein-coding gene	gene with protein product		615652	"thioesterase superfamily member 2"	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.82-10203A>-	6.37:g.24687908delA		Somatic	0	24	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	F5H2L4|O95549	RNA	DEL							-	NULL	ENST00000230048.4	37	NULL	CCDS4558.1	6																																																																																			-	-		0.363	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT13	protein_coding	OTTHUMT00000040010.2	A	NM_018473			24687908	1	no_errors	ENST00000476436	ensembl	human	known	74_37	rna	DEL	0.636	-	-	24687908	A	-	24687908	6	5	66	0	1	1	0	1	0	0	0	0	151	261	9	0		0	ACOT13	6	24687908	Intron	DEL	A	TCGA-DX-A6B7-01A-11D-A307-09	17282346	24687908	146427159	11	3590											
GSTA5	221357	genome.wustl.edu	37	chr6	52705543	52705543	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctctactccagctgcagcCaggagccaccgaatggactc	9	16	1	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:52705543C>G	ENST00000370989.2	-	1	98	c.69G>C	c.(67-69)ctG>ctC	p.L23L	GSTA5_ENST00000284562.2_Silent_p.L23L|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	23	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGCTGCAGCCAGGAGCCACC	0.473																																																	0								ENSG00000182793						115	109	111					6																	52705543		2203	4300	6503	GSTA5	SO:0001819	synonymous_variant	0			-	HGNC	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.69G>C	6.37:g.52705543C>G		Somatic	0	67	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	Q5SZC2	Silent	SNP							pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.L23	ENST00000370989.2	37	c.69	CCDS4946.1	6																																																																																			-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha		0.473	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	protein_coding	OTTHUMT00000040917.1	C	NM_153699	-		52705543	-1	no_errors	ENST00000284562	ensembl	human	known	74_37	silent	SNP	1.000	G	G	52705543	C	G	52705543	2	3	66	1	0	0	0	0	0	0	0	1	6836	581	21	4		4	GSTA5	6	52705543	Silent	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09	28017635	52705543	118409524	12	3591											
FAM46A	55603	genome.wustl.edu	37	chr6	82459945	82459945	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcttcctggaaatcgcCatagacgctctccccgatta	8	13	1	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr6:82459945C>G	ENST00000320172.6	-	3	1110	c.796G>C	c.(796-798)Ggc>Cgc	p.G266R	FAM46A_ENST00000369756.3_Missense_Mutation_p.G347R|FAM46A_ENST00000369754.3_Missense_Mutation_p.G285R	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	266					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGGAAATCGCCATAGACGCTC	0.453																																																	0								ENSG00000112773						70	75	73					6																	82459945		2203	4300	6503	FAM46A	SO:0001583	missense	0			-	HGNC	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.796G>C	6.37:g.82459945C>G	ENSP00000318298:p.Gly266Arg	Somatic	0	55	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	23	47.73	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP							pfam_DUF1693	p.G285R	ENST00000320172.6	37	c.853	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889828	0.72524	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.51574	0.7;0.7;0.7	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78919	-0.2014	10	0.87932	D	0	-18.8827	20.3932	0.98965	0.0:1.0:0.0:0.0	.	266;285	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	R	285;266;347	ENSP00000358769:G285R;ENSP00000318298:G266R;ENSP00000358771:G347R	ENSP00000318298:G266R	G	-	1	0	FAM46A	82516664	1.000000	0.71417	0.984000	0.44739	0.730000	0.41778	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGC	-	pfam_DUF1693		0.453	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	protein_coding	OTTHUMT00000041331.1	C		-		82459945	-1	no_errors	ENST00000369754	ensembl	human	known	74_37	missense	SNP	1.000	G	G	82459945	C	G	82459945	3	3	66	1	0	0	0	0	1	0	0	0	5567	594	21	4	536	4	FAM46A	6	82459945	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09	29754402	82459945	88655122	13	3592											
STEAP1	26872	genome.wustl.edu	37	chr7	89791383	89791383	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatggagagaatttcaCtatattcaggtaaataatat	7	4	2	2			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr7:89791383C>G	ENST00000297205.2	+	4	953	c.753C>G	c.(751-753)caC>caG	p.H251Q	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	251	Ferric oxidoreductase.				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)					GAGAATTTCACTATATTCAGG	0.333																																																	0								ENSG00000164647						45	42	43					7																	89791383		2203	4295	6498	STEAP1	SO:0001583	missense	0			-	HGNC	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.753C>G	7.37:g.89791383C>G	ENSP00000297205:p.His251Gln	Somatic	0	109	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	65	28.57	A4D1E0|O95034	Missense_Mutation	SNP							pfam_Fe3_Rdtase_TM_dom	p.H251Q	ENST00000297205.2	37	c.753	CCDS5614.1	7	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596192	0.28445	.	.	ENSG00000164647	ENST00000297205	D	0.90732	-2.72	5.73	-0.94	0.10405	Flavoprotein transmembrane component (1);	0.338343	0.29059	N	0.013262	T	0.81264	0.4786	L	0.40543	1.245	0.37471	D	0.915603	B;B	0.13145	0.007;0.003	B;B	0.12837	0.008;0.008	T	0.65948	-0.6044	10	0.29301	T	0.29	-10.2187	3.8591	0.08988	0.0984:0.3147:0.3857:0.2012	.	251;251	B4E221;Q9UHE8	.;STEA1_HUMAN	Q	251	ENSP00000297205:H251Q	ENSP00000297205:H251Q	H	+	3	2	STEAP1	89629319	0.136000	0.22515	0.997000	0.53966	0.887000	0.51463	-0.152000	0.10159	0.062000	0.16340	-0.929000	0.02709	CAC	-	pfam_Fe3_Rdtase_TM_dom		0.333	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	protein_coding	OTTHUMT00000059327.3	C	NM_012449	-		89791383	1	no_errors	ENST00000297205	ensembl	human	known	74_37	missense	SNP	0.969	G	G	89791383	C	G	89791383	3	3	66	1	0	0	0	0	1	0	0	0	15284	564	20	4	763	4	STEAP1	7	89791383	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09		89791383	69347280	14	3593											
CLCN1	1180	genome.wustl.edu	37	chr7	143042676	143042676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctcctgcagcgccacCtgtgtcctgagcgcaggctg	13	16	0	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr7:143042676C>T	ENST00000343257.2	+	17	2080	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	665	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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)			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)					GCAGCGCCACCTGTGTCCTGA	0.687											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000188037						14	11	12					7																	143042676		2127	4159	6286	CLCN1	SO:0001819	synonymous_variant	0			-	HGNC	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.1993C>T	7.37:g.143042676C>T		Somatic	0	174	0	1676	0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	87	41.61	A4D2H5|Q2M202	Silent	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.L665	ENST00000343257.2	37	c.1993	CCDS5881.1	7																																																																																			-	NULL		0.687	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	protein_coding	OTTHUMT00000327420.1	C	NM_000083	-		143042676	1	no_errors	ENST00000343257	ensembl	human	known	74_37	silent	SNP	0.998	T	T	143042676	C	T	143042676	2	4	66	1	0	0	0	0	0	0	0	1	3464	680	24	2		2	CLCN1	7	143042676	Silent	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09	53251293	143042676	16095987	15	3594											
FAM86B2	653333	genome.wustl.edu	37	chr8	12283473	12283473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtcatgatgagcttcCgcttcccatctgatcccatc	7	14	3	3			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr8:12283473C>T	ENST00000262365.4	-	8	917	c.918G>A	c.(916-918)gcG>gcA	p.A306A	FAM86B2_ENST00000351291.4_Silent_p.A272A|FAM86B2_ENST00000393715.3_Missense_Mutation_p.G126R|FAM86B2_ENST00000309608.5_3'UTR|AC087203.1_ENST00000580058.1_RNA	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	306										endometrium(1)|kidney(2)	3						GATGAGCTTCCGCTTCCCATC	0.527																																																	0								ENSG00000145002						2	2	2					8																	12283473		521	1081	1602	FAM86B2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.918G>A	8.37:g.12283473C>T		Somatic	0	43	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16		Missense_Mutation	SNP							NULL	p.G126R	ENST00000262365.4	37	c.376	CCDS59092.1	8	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.795600	0.00617	.	.	ENSG00000145002	ENST00000393715	T	0.34072	1.38	2.22	-4.44	0.03557	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.29181	-1.0020	5	0.07175	T	0.84	.	4.0137	0.09634	0.0:0.4192:0.2034:0.3774	.	.	.	.	R	126	ENSP00000377318:G126R	ENSP00000377318:G126R	G	-	1	0	FAM86B2	12327844	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.923000	0.00169	-1.939000	0.01044	-1.565000	0.00878	GGA	-	NULL		0.527	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	protein_coding		C	XM_928336	-		12283473	-1	no_errors	ENST00000393715	ensembl	human	known	74_37	missense	SNP	0.000	T	T	12283473	C	T	12283473	2	4	66	1	0	0	0	0	0	0	0	1	5647	639	23	1		1	FAM86B2	8	12283473	Silent	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09		12283473	134080549	16	3595											
FAM86B2	653333	genome.wustl.edu	37	chr8	12293822	12293822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaaccctgcagcaagaGttcggtccccgcgttctcct	8	16	2	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr8:12293822G>T	ENST00000262365.4	-	1	30	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	FAM86B2_ENST00000351291.4_Missense_Mutation_p.L11I|FAM86B2_ENST00000393715.3_5'UTR|FAM86B2_ENST00000309608.5_Missense_Mutation_p.L11I	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	11										endometrium(1)|kidney(2)	3						TGCAGCAAGAGTTCGGTCCCC	0.731																																																	0								ENSG00000145002						1	2	2					8																	12293822		104	543	647	FAM86B2	SO:0001583	missense	0			-	HGNC		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.31C>A	8.37:g.12293822G>T	ENSP00000262365:p.Leu11Ile	Somatic	0	50	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18		Missense_Mutation	SNP							pfam_Nicotinamide_N-MeTfrase-like	p.L11I	ENST00000262365.4	37	c.31	CCDS59092.1	8	.	.	.	.	.	.	.	.	.	.	g	13.72	2.320011	0.41096	.	.	ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000309608;ENST00000527331;ENST00000532480	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	0.893	0.893	0.19236	.	7779.730000	0.00789	U	0.001326	T	0.16085	0.0387	L	0.43152	1.355	0.09310	N	1	B	0.20780	0.048	B	0.15484	0.013	T	0.22068	-1.0227	10	0.37606	T	0.19	.	5.1414	0.14961	0.0:0.0:1.0:0.0	.	11	P0C5J1	F86B2_HUMAN	I	11	ENSP00000262365:L11I;ENSP00000283479:L11I;ENSP00000311330:L11I;ENSP00000432491:L11I;ENSP00000436338:L11I	ENSP00000262365:L11I	L	-	1	0	FAM86B2	12338193	0.000000	0.05858	0.015000	0.15790	0.038000	0.13279	-1.695000	0.01913	0.768000	0.33290	0.162000	0.16502	CTC	-	NULL		0.731	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	protein_coding		G	XM_928336	-		12293822	-1	no_errors	ENST00000262365	ensembl	human	known	74_37	missense	SNP	0.397	T	T	12293822	G	T	12293822	3	4	66	1	0	0	0	0	1	0	0	0	5647	1029	36	3	993	3	FAM86B2	8	12293822	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	10349	12293822	134070200	17	3596											
SLC7A2	6542	genome.wustl.edu	37	chr8	17422530	17422530	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagagatgaaaacaatgaaGaagatgcttatccagacaac	9	6	0	7			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr8:17422530G>T	ENST00000494857.1	+	13	2070	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	SLC7A2_ENST00000004531.10_Nonsense_Mutation_p.E658*|SLC7A2_ENST00000398090.3_Nonsense_Mutation_p.E657*|SLC7A2_ENST00000522656.1_Nonsense_Mutation_p.E618*|SLC7A2_ENST00000470360.1_Nonsense_Mutation_p.E657*	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	618					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAACAATGAAGAAGATGCTTA	0.398																																																	0								ENSG00000003989						94	82	86					8																	17422530		2203	4300	6503	SLC7A2	SO:0001587	stop_gained	0			-	HGNC	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1852G>T	8.37:g.17422530G>T	ENSP00000419140:p.Glu618*	Somatic	0	39	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Nonsense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.E658*	ENST00000494857.1	37	c.1972	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166304	0.78339	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	.	.	.	5.51	4.63	0.57726	.	0.959528	0.08722	N	0.903307	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.3073	0.66393	0.071:0.0:0.929:0.0	.	.	.	.	X	618;618;657;658;657	.	ENSP00000004531:E658X	E	+	1	0	SLC7A2	17466804	1.000000	0.71417	0.051000	0.19133	0.005000	0.04900	4.992000	0.63889	1.469000	0.48083	0.650000	0.86243	GAA	-	NULL		0.398	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	G	NM_003046	-		17422530	1	no_errors	ENST00000004531	ensembl	human	known	74_37	nonsense	SNP	0.286	T	T	17422530	G	T	17422530	4	4	66	1	0	0	0	0	0	1	0	0	14705	943	33	3	2159	3	SLC7A2	8	17422530	Nonsense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	5128708	17422530	128941492	18	3597											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68172143	68172144	+	Frame_Shift_Ins	INS	-	-	TT													ggaggtactgtattcctctcINStttggtttcttattaaatct							TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr8:68172143_68172144insTT	ENST00000262215.3	-	15	2530_2531	c.2141_2142insAA	c.(2140-2142)aagfs	p.K714fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.K168fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	714	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTATTCCTCTCTTTGGTTTCTT	0.342																																																	0								ENSG00000066777																																			ARFGEF1	SO:0001589	frameshift_variant	0				HGNC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2140_2141dupAA	8.37:g.68172144_68172145dupTT	ENSP00000262215:p.Lys714fs	Somatic	0	84	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	36	38.98	Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS							pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.G716fs	ENST00000262215.3	37	c.2142_2141	CCDS6199.1	8																																																																																			-	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom		0.342	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	protein_coding	OTTHUMT00000379441.4	-	NM_006421			68172144	-1	no_errors	ENST00000262215	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	TT	TT	68172144	-	TT	68172143	7	5	66	1	0	1	1	0	0	0	0	0	852	912	32	0	3507	0	ARFGEF1	8	68172143	Frame_Shift_Ins	INS	-	TCGA-DX-A6B7-01A-11D-A307-09	50749613	68172143	78191879	19	3598											
KIF27	55582	genome.wustl.edu	37	chr9	86530369	86530369	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaaaacaaaatcaaaAgtgaagactctatctctccc	4	11	3	2			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr9:86530369A>C	ENST00000297814.2	-	2	281	c.138T>G	c.(136-138)acT>acG	p.T46T	KIF27_ENST00000334204.2_Silent_p.T46T|KIF27_ENST00000413982.1_Silent_p.T46T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	46	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						CAAAATCAAAAGTGAAGACTC	0.378																																																	0								ENSG00000165115						53	56	55					9																	86530369		2202	4297	6499	KIF27	SO:0001819	synonymous_variant	0			-	HGNC	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.138T>G	9.37:g.86530369A>C		Somatic	0	142	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	111	15.79	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T46	ENST00000297814.2	37	c.138	CCDS6665.1	9																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.378	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	A	NM_017576	-		86530369	-1	no_errors	ENST00000297814	ensembl	human	known	74_37	silent	SNP	0.998	C	C	86530369	A	C	86530369	2	2	66	1	0	0	0	0	0	0	0	1	8298	59	3	5		5	KIF27	9	86530369	Silent	SNP	A	TCGA-DX-A6B7-01A-11D-A307-09		86530369	54683062	20	3599											
LGALS12	85329	genome.wustl.edu	37	chr11	63276351	63276351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccaagccccatgtcatctGcaacaccctgcatggtggac	8	16	2	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:63276351G>C	ENST00000394618.3	+	3	617	c.326G>C	c.(325-327)tGc>tCc	p.C109S	LGALS12_ENST00000340246.5_Missense_Mutation_p.C110S|LGALS12_ENST00000255684.5_Missense_Mutation_p.C109S|LGALS12_ENST00000415491.2_Missense_Mutation_p.C48S|LGALS12_ENST00000425950.2_Missense_Mutation_p.C48S	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	109	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CATGTCATCTGCAACACCCTG	0.602																																																	0								ENSG00000133317						81	80	80					11																	63276351		2201	4298	6499	LGALS12	SO:0001583	missense	0			-	HGNC	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.326G>C	11.37:g.63276351G>C	ENSP00000378116:p.Cys109Ser	Somatic	0	49	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP							pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.C110S	ENST00000394618.3	37	c.329	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140907	0.77775	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.18016	2.24;2.24;2.73;3.44;3.44	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000003	T	0.51109	0.1655	M	0.92507	3.315	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.87578	0.998;0.959;0.987;0.998	T	0.54111	-0.8342	10	0.22706	T	0.39	-30.4819	17.5502	0.87873	0.0:0.0:1.0:0.0	.	69;110;109;109	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	S	109;109;110;48;48	ENSP00000255684:C109S;ENSP00000378116:C109S;ENSP00000339374:C110S;ENSP00000394659:C48S;ENSP00000399093:C48S	ENSP00000255684:C109S	C	+	2	0	LGALS12	63032927	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.910000	0.87451	2.824000	0.97209	0.655000	0.94253	TGC	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.602	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	protein_coding	OTTHUMT00000396378.1	G	NM_033101	-		63276351	1	no_errors	ENST00000340246	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63276351	G	C	63276351	3	2	66	1	0	0	0	0	1	0	0	0	8741	1319	46	4	339	4	LGALS12	11	63276351	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		63276351	71730165	21	3600											
PCNXL3	399909	genome.wustl.edu	37	chr11	65402801	65402801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacccagcatggcgcaGcgccatcctcagcaacacgc	12	16	1	1	rs375106937		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:65402801G>A	ENST00000355703.3	+	31	5605	c.5066G>A	c.(5065-5067)aGc>aAc	p.S1689N	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1689						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCATGGCGCAGCGCCATCCTC	0.612																																																	0								ENSG00000197136	G	ASN/SER	0,4124		0,0,2062	23	24	24		5066	4	1	11		24	1,8353		0,1,4176	no	missense	PCNXL3	NM_032223.2	46	0,1,6238	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	1689/2035	65402801	1,12477	2062	4177	6239	PCNXL3	SO:0001583	missense	0			-	HGNC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5066G>A	11.37:g.65402801G>A	ENSP00000347931:p.Ser1689Asn	Somatic	0	10	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	Q6MZN8	Missense_Mutation	SNP							pfam_Pecanex	p.S1689N	ENST00000355703.3	37	c.5066	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494225	0.44352	0.0	1.2E-4	ENSG00000197136	ENST00000355703	T	0.42131	0.98	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.12637	0.245	0.37096	D	0.899669	B;D	0.58268	0.038;0.982	B;P	0.54629	0.062;0.757	T	0.25328	-1.0135	10	0.19590	T	0.45	.	13.7058	0.62639	0.0:0.0:1.0:0.0	.	576;1689	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	N	1689	ENSP00000347931:S1689N	ENSP00000347931:S1689N	S	+	2	0	PCNXL3	65159377	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.827000	0.69300	2.097000	0.63578	0.462000	0.41574	AGC	-	pfam_Pecanex		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	protein_coding	OTTHUMT00000390321.1	G	NM_032223	-		65402801	1	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65402801	G	A	65402801	3	1	66	1	0	0	0	0	1	0	0	0	11595	971	34	2	5188	2	PCNXL3	11	65402801	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	2126450	65402801	69603715	22	3601											
ATM	472	genome.wustl.edu	37	chr11	108159797	108159797	+	Frame_Shift_Del	DEL	A	A	-													aattgtcataaaaccaagttAaaaagcattttagaaattct							TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:108159797delA	ENST00000452508.2	+	29	4392	c.4203delA	c.(4201-4203)ttafs	p.L1401fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.L1401fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1401					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAACCAAGTTAAAAAGCATTT	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						58	57	57					11																	108159797		2201	4294	6495	ATM	SO:0001589	frameshift_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome		HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4203delA	11.37:g.108159797delA	ENSP00000388058:p.Leu1401fs	Somatic	0	71	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1403fs	ENST00000452508.2	37	c.4203	CCDS31669.1	11																																																																																			-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	A	NM_000051			108159797	1	no_errors	ENST00000278616	ensembl	human	known	74_37	frame_shift_del	DEL	0.201	-	-	108159797	A	-	108159797	7	5	66	1	0	1	0	1	0	0	0	0	1109	359	13	0	4309	0	ATM	11	108159797	Frame_Shift_Del	DEL	A	TCGA-DX-A6B7-01A-11D-A307-09	42756996	108159797	26846719	23	3602	51	2									
ATM	472	genome.wustl.edu	37	chr11	108159802	108159802	+	Missense_Mutation	SNP	G	G	T													tcataaaaccaagttaaaaaGcattttagaaattctttcca							TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr11:108159802G>T	ENST00000452508.2	+	29	4397	c.4208G>T	c.(4207-4209)aGc>aTc	p.S1403I	ATM_ENST00000278616.4_Missense_Mutation_p.S1403I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1403					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGTTAAAAAGCATTTTAGAA	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						55	54	55					11																	108159802		2201	4294	6495	ATM	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4208G>T	11.37:g.108159802G>T	ENSP00000388058:p.Ser1403Ile	Somatic	0	68	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1403I	ENST00000452508.2	37	c.4208	CCDS31669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.851278|2.851278	0.51270|0.51270	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000531525|ENST00000278616;ENST00000452508;ENST00000389511	.|T;T	.|0.74209	.|-0.82;-0.82	5.36|5.36	4.45|4.45	0.53987|0.53987	.|Armadillo-type fold (1);	.|0.181972	.|0.64402	.|D	.|0.000013	T|T	0.78323|0.78323	0.4265|0.4265	L|L	0.45581|0.45581	1.43|1.43	0.42471|0.42471	D|D	0.992825|0.992825	.|D;P	.|0.59767	.|0.986;0.842	.|P;B	.|0.60012	.|0.867;0.388	T|T	0.78826|0.78826	-0.2051|-0.2051	5|10	.|0.52906	.|T	.|0.07	.|.	11.1026|11.1026	0.48184|0.48184	0.1487:0.0:0.8513:0.0|0.1487:0.0:0.8513:0.0	.|.	.|55;1403	.|E7EV38;Q13315	.|.;ATM_HUMAN	S|I	73|1403;1403;55	.|ENSP00000278616:S1403I;ENSP00000388058:S1403I	.|ENSP00000278616:S1403I	A|S	+|+	1|2	0|0	ATM|ATM	107665012|107665012	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.511000|0.511000	0.34104|0.34104	2.110000|2.110000	0.41873|0.41873	1.255000|1.255000	0.44051|0.44051	0.650000|0.650000	0.86243|0.86243	GCA|AGC	-	superfamily_ARM-type_fold		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	G	NM_000051	-		108159802	1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108159802	G	T	108159802	3	4	66	1	0	0	0	0	1	0	0	0	1109	971	34	3	4314	3	ATM	11	108159802	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	5	108159802	26846714	24	3603	51	2									
SCFD1	23256	genome.wustl.edu	37	chr14	31091601	31091601	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagtattcgggaaaggcaGacaggtactgacttattctc	11	9	1	2			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr14:31091601G>A	ENST00000458591.2	+	1	284	c.57G>A	c.(55-57)caG>caA	p.Q19Q	SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000544052.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	19					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GGGAAAGGCAGACAGGTACTG	0.632																																																	0								ENSG00000092108						87	62	71					14																	31091601		2116	4109	6225	SCFD1	SO:0001819	synonymous_variant	0			-	HGNC	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.57G>A	14.37:g.31091601G>A		Somatic	0	92	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	44	44.30	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP							pfam_Sec1-like,superfamily_Sec1-like	p.Q19	ENST00000458591.2	37	c.57	CCDS9639.1	14																																																																																			-	superfamily_Sec1-like		0.632	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	protein_coding	OTTHUMT00000276612.3	G	NM_182835	-		31091601	1	no_errors	ENST00000458591	ensembl	human	known	74_37	silent	SNP	1.000	A	A	31091601	G	A	31091601	2	1	66	1	0	0	0	0	0	0	0	1	13897	933	33	2		2	SCFD1	14	31091601	Silent	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		31091601	76257939	25	3604											
SLC35F4	341880	genome.wustl.edu	37	chr14	58031030	58031030	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcagcagaaacccaatgcaGatgatgatggtagcagccag	11	9	1	4			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr14:58031030G>T	ENST00000339762.6	-	8	1388	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	SLC35F4_ENST00000554729.1_Silent_p.I304I|SLC35F4_ENST00000556826.1_Silent_p.I427I			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	463					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCAATGCAGATGATGATGG	0.468																																																	0								ENSG00000151812						71	71	71					14																	58031030		2024	4176	6200	SLC35F4	SO:0001819	synonymous_variant	0			-	HGNC			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1389C>A	14.37:g.58031030G>T		Somatic	0	37	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A6NDQ3	Silent	SNP							pfam_DMT,pfam_SLC35_F1/F2/F6	p.I463	ENST00000339762.6	37	c.1389		14																																																																																			-	NULL		0.468	SLC35F4-201	KNOWN	basic	protein_coding	SLC35F4	protein_coding		G	XM_292260	-		58031030	-1	no_errors	ENST00000339762	ensembl	human	known	74_37	silent	SNP	1.000	T	T	58031030	G	T	58031030	2	4	66	1	0	0	0	0	0	0	0	1	14599	932	33	3		3	SLC35F4	14	58031030	Silent	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09	26939429	58031030	49318510	26	3605											
KCNK10	54207	genome.wustl.edu	37	chr14	88652154	88652154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagtctggaggtggaccCgaacttgttgatgatgttgt	16	5	1	3			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr14:88652154C>T	ENST00000340700.5	-	7	1793	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	KCNK10_ENST00000319231.5_Missense_Mutation_p.G453R|KCNK10_ENST00000312350.5_Missense_Mutation_p.G453R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	448					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G448R(1)|p.G453R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGTGGACCCGAACTTGTTG	0.542																																																	2	Substitution - Missense(2)	breast(2)						ENSG00000100433						133	126	128					14																	88652154		2203	4300	6503	KCNK10	SO:0001583	missense	0			-	HGNC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1342G>A	14.37:g.88652154C>T	ENSP00000343104:p.Gly448Arg	Somatic	0	141	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	39	43.48	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.G453R	ENST00000340700.5	37	c.1357	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469234	0.84533	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.96459	-3.99;-4.01;-4.02	5.71	5.71	0.89125	.	0.333272	0.31566	N	0.007436	D	0.97368	0.9139	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98045	1.0384	10	0.87932	D	0	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	448;453;453	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	448;453;453	ENSP00000343104:G448R;ENSP00000310568:G453R;ENSP00000312811:G453R	ENSP00000310568:G453R	G	-	1	0	KCNK10	87721907	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	GGG	-	NULL		0.542	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	protein_coding	OTTHUMT00000410167.1	C	NM_021161	-		88652154	-1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88652154	C	T	88652154	3	4	66	1	0	0	0	0	1	0	0	0	8061	652	23	1	278	1	KCNK10	14	88652154	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09	30621124	88652154	18697386	27	3606											
TRPM1	4308	genome.wustl.edu	37	chr15	31339353	31339353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtaaagggtccgaaaGtttttccgagtgtagttgca	12	5	0	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr15:31339353G>A	ENST00000256552.6	-	15	1872	c.1725C>T	c.(1723-1725)aaC>aaT	p.N575N	TRPM1_ENST00000397795.2_Silent_p.N553N|TRPM1_ENST00000542188.1_Silent_p.N592N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGTCCGAAAGTTTTTCCGAG	0.522																																																	0								ENSG00000134160						113	114	113					15																	31339353		1965	4142	6107	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1725C>T	15.37:g.31339353G>A		Somatic	0	87	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	43	39.73		Silent	SNP							pfam_Ion_trans_dom	p.N592	ENST00000256552.6	37	c.1776	CCDS58346.1	15																																																																																			-	NULL		0.522	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31339353	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.749	A	A	31339353	G	A	31339353	2	1	66	1	0	0	0	0	0	0	0	1	16592	1020	36	2		2	TRPM1	15	31339353	Silent	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		31339353	71192039	28	3607											
TSR1	55720	genome.wustl.edu	37	chr17	2227521	2227521	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccccttgaggcactgttgaaGaaatctcacttttcagccag	8	12	2	3	rs376000588		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr17:2227521G>T	ENST00000301364.5	-	15	3463	c.2384C>A	c.(2383-2385)tCt>tAt	p.S795Y	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	795					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CACTGTTGAAGAAATCTCACT	0.463																																																	0								ENSG00000167721						159	150	153					17																	2227521		2203	4300	6503	TSR1	SO:0001583	missense	0			-	HGNC	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2384C>A	17.37:g.2227521G>T	ENSP00000301364:p.Ser795Tyr	Somatic	0	70	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP							pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN	p.S795Y	ENST00000301364.5	37	c.2384	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	G	7.415	0.635456	0.14322	.	.	ENSG00000167721	ENST00000301364	T	0.12361	2.69	4.92	3.94	0.45596	.	0.301561	0.37178	N	0.002217	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B	0.29805	0.257	B	0.26969	0.075	T	0.26815	-1.0092	10	0.59425	D	0.04	-7.5304	10.0094	0.41977	0.0936:0.0:0.9064:0.0	.	795	Q2NL82	TSR1_HUMAN	Y	795	ENSP00000301364:S795Y	ENSP00000301364:S795Y	S	-	2	0	TSR1	2174271	0.483000	0.25956	0.086000	0.20670	0.019000	0.09904	3.662000	0.54510	2.277000	0.76020	0.655000	0.94253	TCT	-	NULL		0.463	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	protein_coding	OTTHUMT00000438180.2	G	NM_018128	-		2227521	-1	no_errors	ENST00000301364	ensembl	human	known	74_37	missense	SNP	0.070	T	T	2227521	G	T	2227521	3	4	66	1	0	0	0	0	1	0	0	0	16671	942	33	3	34	3	TSR1	17	2227521	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		2227521	78967689	29	3608											
TP53	7157	genome.wustl.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	9	15	2	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		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). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(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)	AGGACAGGCACAAACACGCAC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M		ENSG00000141510						71	61	64					17																	7577114		2203	4300	6503	TP53	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;	-	HGNC	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr	Somatic	0	51	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	3	82.61	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275Y	ENST00000269305.4	37	c.824	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577114	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577114	C	T	7577114	3	4	66	1	0	0	0	0	1	0	0	0	16388	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09	5349593	7577114	73618096	30	3609											
BAHCC1	57597	genome.wustl.edu	37	chr17	79426613	79426613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtctcgatgtctgtaccCgggcaacgtggtccggggta	15	10	2	0	rs374689780		TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr17:79426613C>T	ENST00000307745.7	+	27	5888	c.5888C>T	c.(5887-5889)cCg>cTg	p.P1963L	RP11-1055B8.8_ENST00000572590.1_RNA																							TGTCTGTACCCGGGCAACGTG	0.657																																																	0								ENSG00000171282	C	LEU/PRO	0,4028		0,0,2014	45	52	50		5717	4.9	0.8	17		50	1,8331		0,1,4165	no	missense	BAHCC1	NM_001080519.2	98	0,1,6179	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1906/2552	79426613	1,12359	2014	4166	6180	RP11-1055B8.7	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000307745.7:c.5888C>T	17.37:g.79426613C>T	ENSP00000303486:p.Pro1963Leu	Somatic	0	69	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	23	53.85		Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P1963L	ENST00000307745.7	37	c.5888		17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433674	0.83776	0.0	1.2E-4	ENSG00000171282	ENST00000307745	T	0.51574	0.7	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000012	T	0.67841	0.2936	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.965;0.996	T	0.72157	-0.4375	10	0.87932	D	0	.	15.5589	0.76223	0.0:1.0:0.0:0.0	.	1963;1963	Q9P281;F8WBW8	BAHC1_HUMAN;.	L	1963	ENSP00000303486:P1963L	ENSP00000303486:P1963L	P	+	2	0	AC110285.1	77041208	1.000000	0.71417	0.806000	0.32338	0.768000	0.43524	5.275000	0.65575	2.273000	0.75805	0.561000	0.74099	CCG	-	NULL		0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	protein_coding		C		-		79426613	1	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	SNP	0.998	T	T	79426613	C	T	79426613	3	4	66	1	0	0	0	0	1	0	0	0	1296	652	23	1	5809	1	BAHCC1	17	79426613	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09	71849499	79426613	1768597	31	3610											
UNC13A	23025	genome.wustl.edu	37	chr19	17740964	17740964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccacaccttggcaaagCgcctcatgtagtgccccacg	8	17	2	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr19:17740964C>T	ENST00000519716.2	-	30	3658	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	UNC13A_ENST00000552293.1_Missense_Mutation_p.R1220H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1218H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1220H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1220H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1308H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1220	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTTGGCAAAGCGCCTCATGTA	0.537																																																	0								ENSG00000130477						41	41	41					19																	17740964		1794	3825	5619	UNC13A	SO:0001583	missense	0			-	HGNC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3659G>A	19.37:g.17740964C>T	ENSP00000429562:p.Arg1220His	Somatic	0	39	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	E5RHY9	Missense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1308H	ENST00000519716.2	37	c.3923	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	c	16.65	3.180894	0.57800	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	3.01	3.01	0.34805	Munc13 homology 1 (1);	0.000000	0.64402	U	0.000004	D	0.89090	0.6616	M	0.85299	2.745	0.48236	D	0.999616	D	0.89917	1.0	D	0.79784	0.993	D	0.90314	0.4339	10	0.87932	D	0	.	11.54	0.50661	0.0:1.0:0.0:0.0	.	1220	Q9UPW8	UN13A_HUMAN	H	1220;1308;1220;1220;1220;1218	ENSP00000429562:R1220H;ENSP00000400409:R1308H;ENSP00000252773:R1220H;ENSP00000447236:R1220H;ENSP00000447572:R1220H;ENSP00000446831:R1218H	ENSP00000252773:R1220H	R	-	2	0	UNC13A	17601964	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.497000	0.81536	1.541000	0.49316	0.282000	0.19409	CGC	-	NULL		0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	protein_coding	OTTHUMT00000376169.2	C	XM_038604	-		17740964	-1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17740964	C	T	17740964	3	4	66	1	0	0	0	0	1	0	0	0	16991	768	27	1	1508	1	UNC13A	19	17740964	Missense_Mutation	SNP	C	TCGA-DX-A6B7-01A-11D-A307-09		17740964	41388019	32	3611											
FCGBP	8857	genome.wustl.edu	37	chr19	40363977	40363977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcctcgtccccaggctTtgggtggcagacttgggcca	13	12	0	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr19:40363977T>G	ENST00000221347.6	-	31	14672	c.14665A>C	c.(14665-14667)Aag>Cag	p.K4889Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4889	VWFD 12. {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)			TCCCCAGGCTTTGGGTGGCAG	0.587																																																	0								ENSG00000090920						91	79	83					19																	40363977		2203	4300	6503	FCGBP	SO:0001583	missense	0			-	HGNC	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.14665A>C	19.37:g.40363977T>G	ENSP00000221347:p.Lys4889Gln	Somatic	0	58	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.K4889Q	ENST00000221347.6	37	c.14665	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	T	0.422	-0.907770	0.02434	.	.	ENSG00000090920	ENST00000221347	T	0.58652	0.32	5.04	-2.98	0.05513	von Willebrand factor, type D domain (3);	1.225820	0.05890	N	0.628026	T	0.38852	0.1056	N	0.13168	0.305	0.09310	N	1	B	0.24963	0.115	B	0.33960	0.173	T	0.34354	-0.9832	10	0.12430	T	0.62	.	8.5975	0.33725	0.0:0.2954:0.4158:0.2888	.	4889	Q9Y6R7	FCGBP_HUMAN	Q	4889	ENSP00000221347:K4889Q	ENSP00000221347:K4889Q	K	-	1	0	FCGBP	45055817	0.004000	0.15560	0.001000	0.08648	0.040000	0.13550	-0.088000	0.11198	-0.727000	0.04888	0.260000	0.18958	AAG	-	pfam_VWF_type-D,smart_VWF_type-D		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	T	NM_003890	-		40363977	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.000	G	G	40363977	T	G	40363977	3	3	66	1	0	0	0	0	1	0	0	0	5780	1850	64	5	1576	5	FCGBP	19	40363977	Missense_Mutation	SNP	T	TCGA-DX-A6B7-01A-11D-A307-09	22623013	40363977	18765006	33	3612											
PRDM15	63977	genome.wustl.edu	37	chr21	43230531	43230531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggggtgcttgcgccgcatGtgtcggctcatggaggccct	16	12	1	0			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr21:43230531G>T	ENST00000269844.3	-	28	3839	c.3729C>A	c.(3727-3729)caC>caA	p.H1243Q	PRDM15_ENST00000398548.1_Missense_Mutation_p.H914Q|PRDM15_ENST00000538201.1_Missense_Mutation_p.H897Q|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.H877Q|PRDM15_ENST00000422911.1_Missense_Mutation_p.H934Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGCGCCGCATGTGTCGGCTCA	0.692																																																	0								ENSG00000141956						56	45	48					21																	43230531		2202	4300	6502	PRDM15	SO:0001583	missense	0			-	HGNC	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3729C>A	21.37:g.43230531G>T	ENSP00000269844:p.His1243Gln	Somatic	0	29	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.H1243Q	ENST00000269844.3	37	c.3729	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	g	14.77	2.633702	0.47049	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.19806	3.03;3.03;3.03;3.03;2.12	4.11	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.27419	0.0673	N	0.24115	0.695	0.41634	D	0.989034	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.997;0.996;0.998	T	0.05225	-1.0898	9	0.87932	D	0	-25.0433	7.1848	0.25793	0.3745:0.0:0.6255:0.0	.	1243;934;914	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	934;914;897;877;1243	ENSP00000408592:H934Q;ENSP00000381556:H914Q;ENSP00000444044:H897Q;ENSP00000390245:H877Q;ENSP00000269844:H1243Q	ENSP00000269844:H1243Q	H	-	3	2	PRDM15	42103600	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	1.874000	0.39568	0.679000	0.31345	0.306000	0.20318	CAC	-	smart_Znf_C2H2-like		0.692	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	protein_coding		G	NM_022115	-		43230531	-1	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43230531	G	T	43230531	3	4	66	1	0	0	0	0	1	0	0	0	12461	1368	48	3	810	3	PRDM15	21	43230531	Missense_Mutation	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		43230531	4899364	34	3613											
TRIOBP	11078	genome.wustl.edu	37	chr22	38155238	38155238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcactgagatcccaggaGgatggccacatccccccggg	13	14	0	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chr22:38155238G>A	ENST00000406386.3	+	17	6546	c.6291G>A	c.(6289-6291)gaG>gaA	p.E2097E	TRIOBP_ENST00000403663.2_Silent_p.E384E|TRIOBP_ENST00000407319.2_Silent_p.E384E	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2097					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATCCCAGGAGGATGGCCACA	0.617																																																	0								ENSG00000100106						29	33	31					22																	38155238		2201	4299	6500	TRIOBP	SO:0001819	synonymous_variant	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6291G>A	22.37:g.38155238G>A		Somatic	0	38	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E2097	ENST00000406386.3	37	c.6291	CCDS43015.1	22																																																																																			-	NULL		0.617	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G		-		38155238	1	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	SNP	0.999	A	A	38155238	G	A	38155238	2	1	66	1	0	0	0	0	0	0	0	1	16560	991	35	2		2	TRIOBP	22	38155238	Silent	SNP	G	TCGA-DX-A6B7-01A-11D-A307-09		38155238	13149328	35	3614											
FRMPD4	9758	genome.wustl.edu	37	chrX	12736131	12736131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatggaggaggaggccagTggtaaatttggtactgtgtc	17	4	0	1			TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chrX:12736131T>G	ENST00000380682.1	+	16	3692	c.3186T>G	c.(3184-3186)agT>agG	p.S1062R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1062					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGAGGCCAGTGGTAAATTTG	0.512																																																	0								ENSG00000169933						108	90	96					X																	12736131		2203	4300	6503	FRMPD4	SO:0001583	missense	0			-	HGNC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3186T>G	X.37:g.12736131T>G	ENSP00000370057:p.Ser1062Arg	Somatic	0	11	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	9	59.09	A8K0X9|O15032	Missense_Mutation	SNP							pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.S1062R	ENST00000380682.1	37	c.3186	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826946	0.16749	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05649	3.41	5.49	3.01	0.34805	.	0.366185	0.31821	N	0.007003	T	0.02767	0.0083	N	0.08118	0	0.21675	N	0.999596	B;B	0.19583	0.037;0.015	B;B	0.15052	0.012;0.012	T	0.41734	-0.9492	10	0.46703	T	0.11	-3.6168	1.7736	0.03017	0.4694:0.1333:0.0805:0.3168	.	1054;1062	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	R	1062;1053;1051	ENSP00000370057:S1062R	ENSP00000304583:S1051R	S	+	3	2	FRMPD4	12646052	1.000000	0.71417	0.867000	0.34043	0.871000	0.50021	2.119000	0.41958	0.219000	0.20840	0.486000	0.48141	AGT	-	NULL		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	T	XM_045712	-		12736131	1	no_errors	ENST00000380682	ensembl	human	known	74_37	missense	SNP	0.624	G	G	12736131	T	G	12736131	3	3	66	1	0	0	0	0	1	0	0	0	6061	1693	59	5	3248	5	FRMPD4	23	12736131	Missense_Mutation	SNP	T	TCGA-DX-A6B7-01A-11D-A307-09		12736131	142534429	36	3615											
MED12	9968	genome.wustl.edu	37	chrX	70361098	70361100	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-DX-A6B7-01A-11D-A307-09	TCGA-DX-A6B7-10A-01D-A307-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe12005c-6c77-45ca-a85d-e85367fa7567	6aff930d-fe20-4689-9af5-f730e5d138e0	g.chrX:70361098_70361100delCAG	ENST00000374080.3	+	43	6318_6320	c.6286_6288delCAG	c.(6286-6288)cagdel	p.Q2115del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_In_Frame_Del_p.Q2118del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2114del			Q93074	MED12_HUMAN	mediator complex subunit 12	2115	Gln-rich.				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)	p.Q2096delQ(2)		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)					gcaacagcaacagcagcagcagc	0.557			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Deletion - In frame(2)	large_intestine(2)						ENSG00000184634			109,2865		8,79,14,1239,308						-0.5	0.8			13	174,4778		12,93,57,1759,1167	no	coding	MED12	NM_005120.2		20,172,71,2998,1475	A1A1,A1R,A1,RR,R		3.5137,3.6651,3.5705				283,7643				MED12	SO:0001651	inframe_deletion	0				HGNC	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.6286_6288delCAG	X.37:g.70361107_70361109delCAG	ENSP00000363193:p.Gln2115del	Somatic	0	44	0		0.703574047249631				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2102in_frame_del	ENST00000374080.3	37	c.6295_6297	CCDS43970.1	X																																																																																			-	NULL		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	CAG	NM_005120			70361100	1	no_errors	ENST00000333646	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.999	-	-	70361100	CAG	-	70361098	7	5	66	1	0	1	0	1	0	0	0	0	9430	479	17	0	6456	0	MED12	23	70361098	In_Frame_Del	DEL	CAG	TCGA-DX-A6B7-01A-11D-A307-09	57624967	70361098	84909462	37	3616											
TAS1R2	80834	genome.wustl.edu	37	chr1	19181394	19181394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaccatggcctcgatGtggtggtcggcgctgggtgt	17	10	0	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:19181394G>A	ENST00000375371.3	-	3	591	c.570C>T	c.(568-570)caC>caT	p.H190H	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	190					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGCCTCGATGTGGTGGTCGG	0.612																																																	0								ENSG00000179002						43	42	42					1																	19181394		2203	4300	6503	TAS1R2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.570C>T	1.37:g.19181394G>A		Somatic	0	73	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	Q5TZ19	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.H190	ENST00000375371.3	37	c.570	CCDS187.1	1																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	protein_coding	OTTHUMT00000006953.1	G		-		19181394	-1	no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	SNP	0.003	A	A	19181394	G	A	19181394	2	1	67	1	0	0	0	0	0	0	0	1	15570	1368	48	2		2	TAS1R2	1	19181394	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		19181394	230069227	1	3617											
TESK2	10420	genome.wustl.edu	37	chr1	45811025	45811025	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctggcgagcactaaaAgggttgactttgggggtgcg	17	7	0	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:45811025A>C	ENST00000372086.3	-	11	1603	c.1203T>G	c.(1201-1203)ccT>ccG	p.P401P	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.P372P|TESK2_ENST00000538496.1_Silent_p.P318P|TESK2_ENST00000341771.6_Silent_p.P372P	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	401					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GAGCACTAAAAGGGTTGACTT	0.547																																																	0								ENSG00000070759						47	48	48					1																	45811025		1918	4124	6042	TESK2	SO:0001819	synonymous_variant	0			-	HGNC	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1203T>G	1.37:g.45811025A>C		Somatic	0	89	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P401	ENST00000372086.3	37	c.1203	CCDS41323.1	1																																																																																			-	NULL		0.547	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	protein_coding	OTTHUMT00000020523.1	A	NM_007170	-		45811025	-1	no_errors	ENST00000372086	ensembl	human	known	74_37	silent	SNP	0.999	C	C	45811025	A	C	45811025	2	2	67	1	0	0	0	0	0	0	0	1	15775	59	3	5		5	TESK2	1	45811025	Silent	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	26629631	45811025	203439596	2	3618											
INADL	10207	genome.wustl.edu	37	chr1	62253620	62253620	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgttgccctgcctacTgtagccagcaagggccctgg	11	14	0	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:62253620T>G	ENST00000371158.2	+	8	1158	c.1044T>G	c.(1042-1044)acT>acG	p.T348T	INADL_ENST00000316485.6_Silent_p.T348T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	348					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCCTGCCTACTGTAGCCAGCA	0.488																																																	0								ENSG00000132849						68	65	66					1																	62253620		2203	4300	6503	INADL	SO:0001819	synonymous_variant	0			-	HGNC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1044T>G	1.37:g.62253620T>G		Somatic	0	80	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	31	45.61	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T348	ENST00000371158.2	37	c.1044	CCDS617.2	1																																																																																			-	superfamily_PDZ		0.488	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	protein_coding	OTTHUMT00000023639.2	T	NM_170605	-		62253620	1	no_errors	ENST00000371158	ensembl	human	known	74_37	silent	SNP	0.001	G	G	62253620	T	G	62253620	2	3	67	1	0	0	0	0	0	0	0	1	7733	1567	55	5		5	INADL	1	62253620	Silent	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09	16442595	62253620	186997001	3	3619											
S100A7L2	645922	genome.wustl.edu	37	chr1	153410753	153410753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatctccactgtattggCgaaacatcgcgactatgtcc	7	13	2	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:153410753C>T	ENST00000368725.2	-	2	85	c.86G>A	c.(85-87)cGc>cAc	p.R29H		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	18	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGTATTGGCGAAACATCGC	0.448																																																	0								ENSG00000197364						189	154	166					1																	153410753		2203	4300	6503	S100A7L2	SO:0001583	missense	0			-	HGNC			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.86G>A	1.37:g.153410753C>T	ENSP00000357714:p.Arg29His	Somatic	0	37	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00		Missense_Mutation	SNP							pfscan_EF_hand_dom	p.R29H	ENST00000368725.2	37	c.86		1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.966075	0.00461	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.06218	3.33;3.33;3.33	2.01	-2.2	0.06994	EF-hand-like domain (1);	.	.	.	.	T	0.00271	0.0008	N	0.00069	-2.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	9	0.02654	T	1	.	5.9252	0.19108	0.0:0.473:0.0:0.527	.	18	Q5SY68	S1A7B_HUMAN	H	18;18;29	ENSP00000357714:R18H;ENSP00000357713:R18H;ENSP00000405610:R29H	ENSP00000357713:R18H	R	-	2	0	S100A7L2	151677377	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.049000	0.14099	-0.591000	0.05859	-0.513000	0.04457	CGC	-	NULL		0.448	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	S100A7L2	protein_coding	OTTHUMT00000036797.2	C	NM_001045479	-		153410753	-1	no_errors	ENST00000368725	ensembl	human	known	74_37	missense	SNP	0.000	T	T	153410753	C	T	153410753	3	4	67	1	0	0	0	0	1	0	0	0	13793	768	27	1	260	1	S100A7L2	1	153410753	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	91157133	153410753	95839868	4	3620											
FLAD1	80308	genome.wustl.edu	37	chr1	154956441	154956442	+	Frame_Shift_Ins	INS	-	-	T													ctactggagggccttgcagaINSggggcagagaaggcaggacc							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:154956441_154956442insT	ENST00000292180.3	+	1	593_594	c.271_272insT	c.(271-273)aggfs	p.R91fs	FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000315144.10_5'UTR|FLAD1_ENST00000368433.1_Frame_Shift_Ins_p.R91fs	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	91					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			GGCCTTGCAGAGGGGCAGAGAA	0.614																																																	0								ENSG00000160688																																			FLAD1	SO:0001589	frameshift_variant	0				HGNC		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	Exception_encountered	1.37:g.154956441_154956442insT	ENSP00000292180:p.Arg91fs	Somatic	0	86	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	22	43.59	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Frame_Shift_Ins	INS							pfam_Mopterin-bd_dom,pfam_PAPS_reduct,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,pirsf_FAD_synth_Mopterin-bd	p.R91fs	ENST00000292180.3	37	c.271_272	CCDS1078.1	1																																																																																			-	pirsf_FAD_synth_Mopterin-bd		0.614	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	protein_coding	OTTHUMT00000091089.1	-	NM_025207			154956442	1	no_errors	ENST00000292180	ensembl	human	novel	74_37	frame_shift_ins	INS	0.034:0.042	T	T	154956442	-	T	154956441	7	5	67	1	0	1	1	0	0	0	0	0	5922	295	11	0	273	0	FLAD1	1	154956441	Frame_Shift_Ins	INS	-	TCGA-DX-A6B8-01A-11D-A307-09	1545688	154956441	94294180	5	3621											
LAMB3	3914	genome.wustl.edu	37	chr1	209796433	209796433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaggacacccctgcagCgggagccacaggctgtgcca	15	13	0	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:209796433C>T	ENST00000356082.4	-	17	2584	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R817H|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Missense_Mutation_p.R817H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	817	Domain I.				brown fat cell differentiation (GO:0050873)|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)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCCCTGCAGCGGGAGCCACA	0.642																																																	0								ENSG00000196878						53	61	59					1																	209796433		2203	4300	6503	LAMB3	SO:0001583	missense	0			-	HGNC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2450G>A	1.37:g.209796433C>T	ENSP00000348384:p.Arg817His	Somatic	0	99	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.R817H	ENST00000356082.4	37	c.2450	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322082	0.23994	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.36699	1.24;1.24;1.24	5.21	2.9	0.33743	.	0.904972	0.09792	N	0.755254	T	0.11922	0.0290	N	0.01267	-0.92	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34204	-0.9838	10	0.16896	T	0.51	.	4.6453	0.12568	0.1485:0.3755:0.0:0.476	.	817	Q13751	LAMB3_HUMAN	H	817	ENSP00000375778:R817H;ENSP00000348384:R817H;ENSP00000355997:R817H	ENSP00000348384:R817H	R	-	2	0	LAMB3	207863056	0.288000	0.24324	0.998000	0.56505	0.515000	0.34225	-0.502000	0.06390	0.043000	0.15746	-0.535000	0.04281	CGC	-	NULL		0.642	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	protein_coding	OTTHUMT00000088525.2	C	NM_000228	-		209796433	-1	no_errors	ENST00000356082	ensembl	human	known	74_37	missense	SNP	0.799	T	T	209796433	C	T	209796433	3	4	67	1	0	0	0	0	1	0	0	0	8614	768	27	1	1096	1	LAMB3	1	209796433	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	54839992	209796433	39454188	6	3622											
KIAA1804	84451	genome.wustl.edu	37	chr1	233482270	233482270	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggttggcgagggaatgGcacaggaccaccaaaatgag	15	7	0	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr1:233482270G>A	ENST00000366624.3	+	2	1149	c.888G>A	c.(886-888)tgG>tgA	p.W296*	MLK4_ENST00000366623.3_Nonsense_Mutation_p.W296*	NM_032435.2	NP_115811.2																					CGAGGGAATGGCACAGGACCA	0.438																																																	0								ENSG00000143674						100	95	97					1																	233482270		2203	4300	6503	MLK4	SO:0001587	stop_gained	0			-	Uniprot_gn																												ENST00000366624.3:c.888G>A	1.37:g.233482270G>A	ENSP00000355583:p.Trp296*	Somatic	0	66	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	1	94.74		Nonsense_Mutation	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.W296*	ENST00000366624.3	37	c.888	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.173150	0.98688	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	.	.	.	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	17.3738	0.87386	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000355582:W296X	W	+	3	0	RP5-862P8.2	231548893	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.648000	0.98483	2.319000	0.78375	0.563000	0.77884	TGG	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.438	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	protein_coding	OTTHUMT00000092495.1	G		-		233482270	1	no_errors	ENST00000366624	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	233482270	G	A	233482270	4	1	67	1	0	0	0	0	0	1	0	0	8261	1212	42	2	894	2	KIAA1804	1	233482270	Nonsense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	23685837	233482270	15768351	7	3623											
SCN1A	6323	genome.wustl.edu	37	chr2	166908339	166908339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactatgttcctccaaggaaGcattggtgggaggccattgt	12	8	0	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr2:166908339G>A	ENST00000303395.4	-	6	853	c.854C>T	c.(853-855)gCt>gTt	p.A285V	SCN1A_ENST00000409050.1_Missense_Mutation_p.A285V|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.A285V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A285V|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	285					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)	CTCCAAGGAAGCATTGGTGGG	0.383																																																	0								ENSG00000144285						86	87	87					2																	166908339		2203	4298	6501	SCN1A	SO:0001583	missense	0			-	HGNC	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.854C>T	2.37:g.166908339G>A	ENSP00000303540:p.Ala285Val	Somatic	0	109	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.A285V	ENST00000303395.4	37	c.854	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413210	0.25465	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96011	-3.88;-3.88;-3.84;-3.81	5.41	4.53	0.55603	Ion transport (1);	0.780281	0.11919	N	0.516868	D	0.89357	0.6692	N	0.12637	0.245	0.09310	N	1	B;B;B	0.14805	0.004;0.001;0.011	B;B;B	0.22386	0.038;0.039;0.02	T	0.80353	-0.1418	10	0.33940	T	0.23	.	8.7615	0.34678	0.2419:0.0:0.7581:0.0	.	285;285;285	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	285	ENSP00000407030:A285V;ENSP00000303540:A285V;ENSP00000364554:A285V;ENSP00000386312:A285V	ENSP00000303540:A285V	A	-	2	0	SCN1A	166616585	0.955000	0.32602	0.670000	0.29842	0.970000	0.65996	1.936000	0.40183	1.409000	0.46915	0.655000	0.94253	GCT	-	pfam_Ion_trans_dom,prints_Na_channel_a1su		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	G	NM_006920	-		166908339	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	SNP	0.015	A	A	166908339	G	A	166908339	3	1	67	1	0	0	0	0	1	0	0	0	13922	971	34	2	5259	2	SCN1A	2	166908339	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		166908339	76291034	8	3624											
LASS6	253782	genome.wustl.edu	37	chr2	169571588	169571588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaacaatatggcccgAgtaggaacgctggtcctttg	11	9	1	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr2:169571588A>C	ENST00000305747.6	+	7	1274	c.687A>C	c.(685-687)cgA>cgC	p.R229R	CERS6_ENST00000392687.4_Silent_p.R229R	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	229	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ATATGGCCCGAGTAGGAACGC	0.373																																																	0								ENSG00000172292						209	196	200					2																	169571588		2203	4300	6503	CERS6	SO:0001819	synonymous_variant	0			-	HGNC	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.687A>C	2.37:g.169571588A>C		Somatic	0	168	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	Q32M63|Q8N617	Silent	SNP							pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.R229	ENST00000305747.6	37	c.687	CCDS2228.1	2																																																																																			-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.373	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6	protein_coding	OTTHUMT00000255235.2	A	NM_203463	-		169571588	1	no_errors	ENST00000392687	ensembl	human	known	74_37	silent	SNP	1.000	C	C	169571588	A	C	169571588	2	2	67	1	0	0	0	0	0	0	0	1	8645	291	11	5		5	LASS6	2	169571588	Silent	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	2663249	169571588	73627785	9	3625											
LRP2	4036	genome.wustl.edu	37	chr2	170163909	170163909	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcatgtactttgtgcTgcgaagagaaaaaattatta	9	5	0	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr2:170163909T>C	ENST00000263816.3	-	4	596		c.e4-2		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TACTTTGTGCTGCGAAGAGaa	0.388																																																	0								ENSG00000081479						94	75	82					2																	170163909		2203	4300	6503	LRP2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.311-2A>G	2.37:g.170163909T>C		Somatic	0	52	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	1	92.31	O00711|Q16215	Splice_Site	SNP							-	e4-2	ENST00000263816.3	37	c.311-2	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085224	0.55861	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9169	0.79527	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169872155	1.000000	0.71417	0.912000	0.35992	0.005000	0.04900	7.214000	0.77958	2.152000	0.67230	0.455000	0.32223	.	-	-		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	T	NM_004525	-	Intron	170163909	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	170163909	T	C	170163909	5	2	67	1	0	0	0	0	0	0	1	0	8958	1594	55	5	13962	5	LRP2	2	170163909	Splice_Site	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09	592321	170163909	73035464	10	3626											
NCKAP1	10787	genome.wustl.edu	37	chr2	183806893	183806894	+	Splice_Site	INS	-	-	A													attctccaccacaagtttctINSaaaaaaaaaagaaagatcct					rs140820523	byFrequency	TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr2:183806893_183806894insA	ENST00000361354.4	-	24	2974		c.e24-2		NCKAP1_ENST00000360982.2_Splice_Site|NCKAP1_ENST00000478449.1_Splice_Site	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CACAAGTTTCTAAAAAAAAAAG	0.391																																																	0								ENSG00000061676																																			NCKAP1	SO:0001630	splice_region_variant	0				HGNC	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2602-2->T	2.37:g.183806903_183806903dupA		Somatic	0	96	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	O60329|Q53QN5|Q53S94|Q53Y35	Splice_Site	INS							-	e25-2	ENST00000361354.4	37	c.2620-3_2620-2	CCDS2287.1	2																																																																																			-	-		0.391	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	protein_coding	OTTHUMT00000255867.2	-	NM_205842		Intron	183806894	-1	no_errors	ENST00000360982	ensembl	human	known	74_37	splice_site_ins	INS	0.999:0.019	A	A	183806894	-	A	183806893	8	5	67	1	0	1	1	0	0	0	1	0	10223	1536	53	0	818	0	NCKAP1	2	183806893	Splice_Site	INS	-	TCGA-DX-A6B8-01A-11D-A307-09	13642984	183806893	59392480	11	3627											
SNED1	25992	genome.wustl.edu	37	chr2	241988519	241988519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacggcgggagctacctcTgcgtctgccacaccgaccac	11	17	2	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr2:241988519T>C	ENST00000310397.8	+	11	1585	c.1585T>C	c.(1585-1587)Tgc>Cgc	p.C529R	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.C529R|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.C529R|SNED1_ENST00000342631.6_Missense_Mutation_p.C529R	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	529	Follistatin-like 2.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C529R(1)		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)		GAGCTACCTCTGCGTCTGCCA	0.622																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000162804						22	28	26					2																	241988519		2062	4187	6249	SNED1	SO:0001583	missense	0			-	HGNC	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.1585T>C	2.37:g.241988519T>C	ENSP00000308893:p.Cys529Arg	Somatic	0	99	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	2	80.00	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C529R	ENST00000310397.8	37	c.1585	CCDS46562.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.96|19.96	3.923428|3.923428	0.73213|0.73213	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631|ENST00000401644	D;D;D;D|D	0.84442|0.94138	-1.77;-1.85;-1.85;-1.79|-3.36	5.09|5.09	5.09|5.09	0.68999|0.68999	Follistatin-like, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000016|.	D|D	0.96642|0.96642	0.8904|0.8904	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.96210|0.96210	0.9152|0.9152	10|7	0.87932|0.24483	D|T	0|0.36	.|.	14.5708|14.5708	0.68210|0.68210	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	529|.	Q8TER0|.	SNED1_HUMAN|.	R|P	529|225	ENSP00000384871:C529R;ENSP00000386007:C529R;ENSP00000308893:C529R;ENSP00000342992:C529R|ENSP00000384789:L225P	ENSP00000308893:C529R|ENSP00000384789:L225P	C|L	+|+	1|2	0|0	SNED1|SNED1	241637192|241637192	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.801000|0.801000	0.45260|0.45260	6.344000|6.344000	0.72991|0.72991	1.919000|1.919000	0.55581|0.55581	0.460000|0.460000	0.39030|0.39030	TGC|CTG	-	NULL		0.622	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	T	XM_059482	-		241988519	1	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	SNP	0.990	C	C	241988519	T	C	241988519	3	2	67	1	0	0	0	0	1	0	0	0	14853	1580	55	5	1627	5	SNED1	2	241988519	Missense_Mutation	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09	58181626	241988519	1210854	12	3628											
FAM3D	131177	genome.wustl.edu	37	chr3	58629402	58629402	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcaccattcaccagggcGatgtttaggcctctgcccac	8	15	3	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr3:58629402G>A	ENST00000358781.2	-	6	619	c.309C>T	c.(307-309)atC>atT	p.I103I		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	103					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TCACCAGGGCGATGTTTAGGC	0.498																																																	0								ENSG00000198643						215	168	184					3																	58629402		2203	4300	6503	FAM3D	SO:0001819	synonymous_variant	0			-	HGNC	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.309C>T	3.37:g.58629402G>A		Somatic	0	160	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q547G2	Silent	SNP							NULL	p.I103	ENST00000358781.2	37	c.309	CCDS2893.1	3																																																																																			-	NULL		0.498	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	protein_coding	OTTHUMT00000353494.1	G	NM_138805	-		58629402	-1	no_errors	ENST00000358781	ensembl	human	known	74_37	silent	SNP	0.988	A	A	58629402	G	A	58629402	2	1	67	1	0	0	0	0	0	0	0	1	5561	1048	37	1		1	FAM3D	3	58629402	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		58629402	139393028	13	3629											
WDR52	55779	genome.wustl.edu	37	chr3	113045447	113045447	+	Frame_Shift_Del	DEL	T	T	-													ggagtttggtgatttcattcTttttctcttccatctcttta							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr3:113045447delT	ENST00000393845.2	-	28	4427	c.4361delA	c.(4360-4362)aagfs	p.K1454fs	WDR52_ENST00000308346.6_Frame_Shift_Del_p.K57fs	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GATTTCATTCTTTTTCTCTTC	0.338																																																	0								ENSG00000206530						152	116	127					3																	113045447		692	1591	2283	WDR52	SO:0001589	frameshift_variant	0				HGNC																												ENST00000393845.2:c.4361delA	3.37:g.113045447delT	ENSP00000377428:p.Lys1454fs	Somatic	0	60	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11		Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1454fs	ENST00000393845.2	37	c.4361	CCDS54624.1	3																																																																																			-	NULL		0.338	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	protein_coding		T				113045447	-1	no_errors	ENST00000393845	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	113045447	T	-	113045447	7	5	67	1	0	1	0	1	0	0	0	0	17311	1609	56	0	1235	0	WDR52	3	113045447	Frame_Shift_Del	DEL	T	TCGA-DX-A6B8-01A-11D-A307-09	54416045	113045447	84976983	14	3630											
NCAPG	64151	genome.wustl.edu	37	chr4	17838918	17838918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgaagaggatgttcaacttcGacattgcctaggcgtgttct	11	8	2	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr4:17838918G>T	ENST00000251496.2	+	15	2422	c.2246G>T	c.(2245-2247)cGa>cTa	p.R749L		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	749					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)		GTTCAACTTCGACATTGCCTA	0.428																																																	0								ENSG00000109805						180	157	165					4																	17838918		2203	4300	6503	NCAPG	SO:0001583	missense	0			-	HGNC	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.2246G>T	4.37:g.17838918G>T	ENSP00000251496:p.Arg749Leu	Somatic	0	130	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R749L	ENST00000251496.2	37	c.2246	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.167745	0.94768	.	.	ENSG00000109805	ENST00000251496	T	0.54279	0.58	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.64546	-0.6382	10	0.22706	T	0.39	-9.9136	20.4209	0.99038	0.0:0.0:1.0:0.0	.	749	Q9BPX3	CND3_HUMAN	L	749	ENSP00000251496:R749L	ENSP00000251496:R749L	R	+	2	0	NCAPG	17448016	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	9.417000	0.97391	2.823000	0.97156	0.591000	0.81541	CGA	-	superfamily_ARM-type_fold		0.428	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	protein_coding	OTTHUMT00000250375.1	G	NM_022346	-		17838918	1	no_errors	ENST00000251496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17838918	G	T	17838918	3	4	67	1	0	0	0	0	1	0	0	0	10209	1058	37	3	2304	3	NCAPG	4	17838918	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		17838918	173315358	15	3631											
ATP10D	57205	genome.wustl.edu	37	chr4	47537547	47537547	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacattccaacaaagaacgCgtgggtctcagtaaagaaaa	9	8	1	2	rs141284146	byFrequency	TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr4:47537547C>A	ENST00000273859.3	+	6	1067	c.798C>A	c.(796-798)cgC>cgA	p.R266R	ATP10D_ENST00000504445.1_Silent_p.R266R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	266					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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)	p.R266R(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAAAGAACGCGTGGGTCTCA	0.378																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000145246						150	140	143					4																	47537547		2203	4300	6503	ATP10D	SO:0001819	synonymous_variant	0			-	HGNC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.798C>A	4.37:g.47537547C>A		Somatic	0	94	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	4	78.95	A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R266	ENST00000273859.3	37	c.798	CCDS3476.1	4																																																																																			-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.378	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	protein_coding	OTTHUMT00000216900.1	C	NM_020453	-		47537547	1	no_errors	ENST00000273859	ensembl	human	known	74_37	silent	SNP	0.090	A	A	47537547	C	A	47537547	2	1	67	1	0	0	0	0	0	0	0	1	1118	755	27	3		3	ATP10D	4	47537547	Silent	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	29698629	47537547	143616729	16	3632											
MMRN1	22915	genome.wustl.edu	37	chr4	90856549	90856549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacattcaagaaagcaAgattaacaatctcaccgtct	5	10	3	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr4:90856549A>C	ENST00000394980.1	+	7	2037	c.1718A>C	c.(1717-1719)aAg>aCg	p.K573T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.K315T|MMRN1_ENST00000264790.2_Missense_Mutation_p.K573T			Q13201	MMRN1_HUMAN	multimerin 1	573					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAGAAAGCAAGATTAACAAT	0.338																																																	0								ENSG00000138722						63	64	64					4																	90856549		2203	4300	6503	MMRN1	SO:0001583	missense	0			-	HGNC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1718A>C	4.37:g.90856549A>C	ENSP00000378431:p.Lys573Thr	Somatic	0	24	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	10	54.55	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP							pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.K573T	ENST00000394980.1	37	c.1718	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495705	0.64186	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.72615	-0.38;-0.38;-0.67	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.82328	0.5013	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82950	-0.0203	10	0.48119	T	0.1	.	15.6166	0.76773	1.0:0.0:0.0:0.0	.	573	Q13201	MMRN1_HUMAN	T	573;573;315	ENSP00000378431:K573T;ENSP00000264790:K573T;ENSP00000426461:K315T	ENSP00000264790:K573T	K	+	2	0	MMRN1	91075572	1.000000	0.71417	0.973000	0.42090	0.930000	0.56654	5.952000	0.70282	2.220000	0.72140	0.482000	0.46254	AAG	-	NULL		0.338	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	A	NM_007351	-		90856549	1	no_errors	ENST00000264790	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90856549	A	C	90856549	3	2	67	1	0	0	0	0	1	0	0	0	9672	72	3	5	1740	5	MMRN1	4	90856549	Missense_Mutation	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	43319002	90856549	100297727	17	3633											
MAML3	55534	genome.wustl.edu	37	chr4	140811086	140811096	+	Frame_Shift_Del	DEL	GCTGCTGCTGC	GCTGCTGCTGC	-													ctgctgctgctgctgctgctGctgctgctgctgctgctgct					rs561881989|rs544518608|rs574825040|rs79090010|rs58287721|rs553194721	byFrequency	TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	GCTGCTGCTGC	GCTGCTGCTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr4:140811086_140811096delGCTGCTGCTGC	ENST00000509479.2	-	2	2350_2360	c.1494_1504delGCAGCAGCAGC	c.(1492-1506)cagcagcagcagcagfs	p.QQQQQ498fs	MAML3_ENST00000327122.5_Frame_Shift_Del_p.QQQQQ342fs|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tgctgctgctgctgctgctgctgctgctgct	0.531														46	0.0091853	0.0015	0.0014	5008	,	,		18223	0.0129		0.0229	False		,,,				2504	0.0072																0								ENSG00000196782																																			MAML3	SO:0001589	frameshift_variant	0				HGNC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1494_1504delGCAGCAGCAGC	4.37:g.140811086_140811096delGCTGCTGCTGC	ENSP00000421180:p.Gln498fs	Somatic					0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							pfam_Neuroggenic_mastermind-like_N	p.Q499fs	ENST00000509479.2	37	c.1504_1494	CCDS54805.1	4																																																																																			-	NULL		0.531	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	GCTGCTGCTGC				140811096	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:0.997:1.000:1.000:0.999:1.000:1.000:0.999	-	-	140811096	GCTGCTGCTGC	-	140811086	7	5	67	1	0	1	0	1	0	0	0	0	9209	1328	46	0	1920	0	MAML3	4	140811086	Frame_Shift_Del	DEL	GCTGCTGCTGC	TCGA-DX-A6B8-01A-11D-A307-09	49954537	140811086	50343190	18	3634											
POU4F2	5458	genome.wustl.edu	37	chr4	147561228	147561228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcgcacccttccgcGttggcgggcacgcaccacca	9	20	1	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr4:147561228G>A	ENST00000281321.3	+	2	746	c.498G>A	c.(496-498)gcG>gcA	p.A166A	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	166					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	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 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)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACCCTTCCGCGTTGGCGGGCA	0.657																																																	0								ENSG00000151615						87	88	87					4																	147561228		2203	4300	6503	POU4F2	SO:0001819	synonymous_variant	0			-	HGNC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.498G>A	4.37:g.147561228G>A		Somatic	0	122	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A166	ENST00000281321.3	37	c.498	CCDS34074.1	4																																																																																			-	NULL		0.657	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	protein_coding	OTTHUMT00000367020.1	G	NM_004575	-		147561228	1	no_errors	ENST00000281321	ensembl	human	known	74_37	silent	SNP	0.217	A	A	147561228	G	A	147561228	2	1	67	1	0	0	0	0	0	0	0	1	12281	1132	40	1		1	POU4F2	4	147561228	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	6750142	147561228	43593048	19	3635											
CTNND2	1501	genome.wustl.edu	37	chr5	11117589	11117589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatctcactgctccccagCgcagactggatcacgtacag	9	15	2	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr5:11117589C>T	ENST00000304623.8	-	13	2439	c.2250G>A	c.(2248-2250)gcG>gcA	p.A750A	CTNND2_ENST00000359640.2_Silent_p.A750A|CTNND2_ENST00000511377.1_Silent_p.A659A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A413A|CTNND2_ENST00000458100.2_Silent_p.A317A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	750					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTCCCCAGCGCAGACTGGA	0.507																																																	0								ENSG00000169862						199	172	181					5																	11117589		2203	4300	6503	CTNND2	SO:0001819	synonymous_variant	0			-	HGNC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2250G>A	5.37:g.11117589C>T		Somatic	0	137	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A750	ENST00000304623.8	37	c.2250	CCDS3881.1	5																																																																																			-	superfamily_ARM-type_fold,smart_Armadillo		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	C	NM_001332	-		11117589	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	SNP	0.188	T	T	11117589	C	T	11117589	2	4	67	1	0	0	0	0	0	0	0	1	4022	755	27	1		1	CTNND2	5	11117589	Silent	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		11117589	169797671	20	3636											
DMGDH	29958	genome.wustl.edu	37	chr5	78338141	78338141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagtagtttctgaccccCtgatggggccccaccatagg	10	15	1	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr5:78338141C>T	ENST00000255189.3	-	7	1186	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	DMGDH_ENST00000380311.4_Silent_p.Q185Q|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	386					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCTGACCCCCTGATGGGGCC	0.413																																																	0								ENSG00000132837						70	68	69					5																	78338141		2203	4300	6503	DMGDH	SO:0001819	synonymous_variant	0			-	HGNC	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1158G>A	5.37:g.78338141C>T		Somatic	0	79	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	B2RBN0|B4E1J9	Silent	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.Q386	ENST00000255189.3	37	c.1158	CCDS4044.1	5																																																																																			-	pfam_FAD-dep_OxRdtase		0.413	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	protein_coding	OTTHUMT00000226963.3	C	NM_013391	-		78338141	-1	no_errors	ENST00000255189	ensembl	human	known	74_37	silent	SNP	1.000	T	T	78338141	C	T	78338141	2	4	67	1	0	0	0	0	0	0	0	1	4583	680	24	2		2	DMGDH	5	78338141	Silent	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	67220552	78338141	102577119	21	3637											
PPIP5K2	23262	genome.wustl.edu	37	chr5	102503855	102503855	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaaagactttaaaacaaaGaatggaagatatgatattag	9	2	0	5			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr5:102503855G>T	ENST00000358359.3	+	19	2651	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K714N|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.K714N	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	714					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTAAAACAAAGAATGGAAGAT	0.303																																																	0								ENSG00000145725						103	110	108					5																	102503855		2201	4288	6489	PPIP5K2	SO:0001583	missense	0			-	HGNC	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2142G>T	5.37:g.102503855G>T	ENSP00000351126:p.Lys714Asn	Somatic	0	150	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP							pfam_His_Pase_superF_clade-2	p.K714N	ENST00000358359.3	37	c.2142		5	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688746	0.68271	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.32753	1.44;1.44;1.44	5.51	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.82823	2.61	0.58432	D	0.999998	P;B;P	0.50943	0.616;0.357;0.94	P;B;P	0.60068	0.574;0.155;0.868	T	0.57423	-0.7814	10	0.87932	D	0	.	11.1026	0.48184	0.2063:0.0:0.7937:0.0	.	714;714;714	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	N	714	ENSP00000313070:K714N;ENSP00000351126:K714N;ENSP00000416016:K714N	ENSP00000313070:K714N	K	+	3	2	PPIP5K2	102531754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.585000	0.46111	0.807000	0.34208	0.460000	0.39030	AAG	-	pfam_His_Pase_superF_clade-2		0.303	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	protein_coding	OTTHUMT00000370487.1	G	NM_015216	-		102503855	1	no_errors	ENST00000358359	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102503855	G	T	102503855	3	4	67	1	0	0	0	0	1	0	0	0	12338	933	33	3	2212	3	PPIP5K2	5	102503855	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	24165714	102503855	78411405	22	3638											
FBN2	2201	genome.wustl.edu	37	chr5	127645047	127645047	+	Frame_Shift_Del	DEL	A	A	-													gaaaggcaactcattctcacAagtggttccattatagcttc							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr5:127645047delA	ENST00000508053.1	-	47	6219	c.5245delT	c.(5245-5247)tgtfs	p.C1749fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.C1749fs			P35556	FBN2_HUMAN	fibrillin 2	1749	TB 7.				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)			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)		TCATTCTCACAAGTGGTTCCA	0.393																																																	0								ENSG00000138829						135	122	126					5																	127645047		2203	4300	6503	FBN2	SO:0001589	frameshift_variant	0				HGNC	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.5245delT	5.37:g.127645047delA	ENSP00000424571:p.Cys1749fs	Somatic	0	73	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B4DU01|Q59ES6	Frame_Shift_Del	DEL							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C1749fs	ENST00000508053.1	37	c.5245	CCDS34222.1	5																																																																																			-	pirsf_FBN,pfam_TB_dom,superfamily_TB_dom		0.393	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	A	NM_001999			127645047	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	127645047	A	-	127645047	7	5	67	1	0	1	0	1	0	0	0	0	5705	130	5	0	3593	0	FBN2	5	127645047	Frame_Shift_Del	DEL	A	TCGA-DX-A6B8-01A-11D-A307-09	25141192	127645047	53270213	23	3639											
PCDHB1	29930	genome.wustl.edu	37	chr5	140431715	140431715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggacggcgggtccccGcctaagtctggcacagctca	15	14	2	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr5:140431715G>A	ENST00000306549.3	+	1	737	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	220	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)			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)			GCGGGTCCCCGCCTAAGTCTG	0.582																																																	0								ENSG00000171815						19	20	20					5																	140431715		2203	4300	6503	PCDHB1	SO:0001819	synonymous_variant	0			-	HGNC	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.660G>A	5.37:g.140431715G>A		Somatic	0	45	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	Q2M257	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P220	ENST00000306549.3	37	c.660	CCDS4243.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.582	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	protein_coding	OTTHUMT00000251822.2	G	NM_013340	-		140431715	1	no_errors	ENST00000306549	ensembl	human	known	74_37	silent	SNP	0.659	A	A	140431715	G	A	140431715	2	1	67	1	0	0	0	0	0	0	0	1	11536	1074	38	1		1	PCDHB1	5	140431715	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	12786668	140431715	40483545	24	3640											
KIAA1191	57179	genome.wustl.edu	37	chr5	175782612	175782612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgctctggaatcactgGcttccaagggacgctgccca	11	14	2	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr5:175782612G>A	ENST00000298569.4	-	4	702	c.169C>T	c.(169-171)Cca>Tca	p.P57S	KIAA1191_ENST00000393728.2_Intron|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.P38S|KIAA1191_ENST00000510164.1_Missense_Mutation_p.P57S|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000533553.1_Intron	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	57						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAATCACTGGCTTCCAAGGG	0.582																																																	0								ENSG00000122203						126	103	111					5																	175782612		2203	4300	6503	KIAA1191	SO:0001583	missense	0			-	HGNC	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.169C>T	5.37:g.175782612G>A	ENSP00000298569:p.Pro57Ser	Somatic	0	98	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP							NULL	p.P57S	ENST00000298569.4	37	c.169	CCDS4399.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.275213	0.95459	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	M	0.74881	2.28	0.80722	D	1	D	0.67145	0.996	P	0.59357	0.856	T	0.80113	-0.1518	9	0.66056	D	0.02	-11.5816	18.8135	0.92068	0.0:0.0:1.0:0.0	.	57	Q96A73	K1191_HUMAN	S	57;38;57;38;38;38	.	ENSP00000298569:P57S	P	-	1	0	KIAA1191	175715218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.177000	0.94849	2.516000	0.84829	0.591000	0.81541	CCA	-	NULL		0.582	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	protein_coding	OTTHUMT00000253146.2	G	NM_020444	-		175782612	-1	no_errors	ENST00000298569	ensembl	human	known	74_37	missense	SNP	1.000	A	A	175782612	G	A	175782612	3	1	67	1	0	0	0	0	1	0	0	0	8214	1203	42	2	772	2	KIAA1191	5	175782612	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	35350897	175782612	5132648	25	3641											
GPR111	222611	genome.wustl.edu	37	chr6	47649471	47649471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagaggagaggaggacAcagtgtgttggctggcactc	16	7	1	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr6:47649471A>G	ENST00000296862.1	+	6	1176	c.1176A>G	c.(1174-1176)acA>acG	p.T392T	GPR111_ENST00000507065.1_Silent_p.T324T|GPR111_ENST00000398742.2_Silent_p.T324T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	392	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGAGGAGGACACAGTGTGTTG	0.458																																																	0								ENSG00000164393						93	93	93					6																	47649471		1940	4145	6085	GPR111	SO:0001819	synonymous_variant	0			-	HGNC	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1176A>G	6.37:g.47649471A>G		Somatic	0	60	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T392	ENST00000296862.1	37	c.1176		6																																																																																			-	pfam_GPS_dom,pfscan_GPS_dom		0.458	GPR111-001	KNOWN	basic	protein_coding	GPR111	protein_coding	OTTHUMT00000106423.2	A	NM_153839	-		47649471	1	no_errors	ENST00000296862	ensembl	human	known	74_37	silent	SNP	0.004	G	G	47649471	A	G	47649471	2	3	67	1	0	0	0	0	0	0	0	1	6630	146	6	5		5	GPR111	6	47649471	Silent	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09		47649471	123465596	26	3642											
DDX43	55510	genome.wustl.edu	37	chr6	74125300	74125301	+	Frame_Shift_Ins	INS	-	-	A													attaatattctggaaagagcINSaaatcaggtgagactatgca							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr6:74125300_74125301insA	ENST00000370336.4	+	15	1984_1985	c.1826_1827insA	c.(1825-1830)gcaaatfs	p.N610fs	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	610	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTGGAAAGAGCAAATCAGGTGA	0.391																																																	0								ENSG00000080007																																			DDX43	SO:0001589	frameshift_variant	0				HGNC		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1829dupA	6.37:g.74125303_74125303dupA	ENSP00000359361:p.Asn610fs	Somatic	0	95	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B4E0C8|Q6NXR1	Frame_Shift_Ins	INS							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.N610fs	ENST00000370336.4	37	c.1826_1827	CCDS4977.1	6																																																																																			-	pfscan_Helicase_C		0.391	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	protein_coding	OTTHUMT00000041219.3	-	NM_018665			74125301	1	no_errors	ENST00000370336	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	74125301	-	A	74125300	7	5	67	1	0	1	1	0	0	0	0	0	4365	710	25	0	1884	0	DDX43	6	74125300	Frame_Shift_Ins	INS	-	TCGA-DX-A6B8-01A-11D-A307-09	26475829	74125300	96989767	27	3643											
FBXO5	26271	genome.wustl.edu	37	chr6	153294183	153294183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgcaaacacttacggTaactctttgtattgctttac	5	10	3	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr6:153294183T>C	ENST00000229758.3	-	3	965	c.907A>G	c.(907-909)Acc>Gcc	p.T303A	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Missense_Mutation_p.T257A	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	303					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACACTTACGGTAACTCTTTGT	0.363																																					NSCLC(121;372 1757 17721 17977 29669)												0								ENSG00000112029						156	131	140					6																	153294183		2203	4300	6503	FBXO5	SO:0001583	missense	0			-	HGNC	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.907A>G	6.37:g.153294183T>C	ENSP00000229758:p.Thr303Ala	Somatic	0	124	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	13	51.85	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom	p.T303A	ENST00000229758.3	37	c.907	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	T	4.808	0.150269	0.09185	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.22539	1.95;1.95	5.83	0.0323	0.14175	.	1.005070	0.07993	N	0.987471	T	0.03608	0.0103	L	0.36672	1.1	0.09310	N	1	B	0.22480	0.07	B	0.19148	0.024	T	0.43814	-0.9368	10	0.06757	T	0.87	-1.7533	6.5742	0.22555	0.6341:0.0953:0.0:0.2705	.	303	Q9UKT4	FBX5_HUMAN	A	303;257	ENSP00000229758:T303A;ENSP00000356210:T257A	ENSP00000229758:T303A	T	-	1	0	FBXO5	153335876	0.480000	0.25933	0.840000	0.33206	0.181000	0.23173	0.252000	0.18278	-0.221000	0.09973	0.460000	0.39030	ACC	-	NULL		0.363	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	protein_coding	OTTHUMT00000042757.1	T		-		153294183	-1	no_errors	ENST00000229758	ensembl	human	known	74_37	missense	SNP	0.008	C	C	153294183	T	C	153294183	3	2	67	1	0	0	0	0	1	0	0	0	5760	1638	57	5	448	5	FBXO5	6	153294183	Missense_Mutation	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09	79168883	153294183	17820884	28	3644											
SND1	27044	genome.wustl.edu	37	chr7	127347658	127347658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagagactatgtggctcCcacagctaatttggaccaaa	10	9	0	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr7:127347658C>A	ENST00000354725.3	+	9	1189	c.995C>A	c.(994-996)cCc>cAc	p.P332H		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	332					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TATGTGGCTCCCACAGCTAAT	0.458																																																	0								ENSG00000197157						137	121	126					7																	127347658		2203	4300	6503	SND1	SO:0001583	missense	0			-	HGNC		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.995C>A	7.37:g.127347658C>A	ENSP00000346762:p.Pro332His	Somatic	0	67	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	Q13122|Q96AG0	Missense_Mutation	SNP							pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.P332H	ENST00000354725.3	37	c.995	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940951	0.73557	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.36157	1.27	5.29	5.29	0.74685	Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.147927	0.64402	D	0.000007	T	0.51160	0.1658	M	0.64170	1.965	0.80722	D	1	P	0.50443	0.935	P	0.53649	0.731	T	0.53892	-0.8374	10	0.87932	D	0	-17.8438	16.7834	0.85568	0.0:1.0:0.0:0.0	.	332	Q7KZF4	SND1_HUMAN	H	332;322	ENSP00000346762:P332H	ENSP00000346762:P332H	P	+	2	0	SND1	127134894	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	7.244000	0.78228	2.621000	0.88768	0.557000	0.71058	CCC	-	superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN		0.458	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	protein_coding	OTTHUMT00000349148.1	C	NM_014390	-		127347658	1	no_errors	ENST00000354725	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127347658	C	A	127347658	3	1	67	1	0	0	0	0	1	0	0	0	14852	623	22	3	1029	3	SND1	7	127347658	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		127347658	31791005	29	3645											
PRSS1	5644	genome.wustl.edu	37	chr7	142459862	142459862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctctggctggggcaaCactgcgagctctggcggtga	14	12	3	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr7:142459862C>A	ENST00000311737.7	+	3	444	c.438C>A	c.(436-438)aaC>aaA	p.N146K	PRSS1_ENST00000486171.1_Missense_Mutation_p.N160K	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCTGGGGCAACACTGCGAGCT	0.572																																																	0								ENSG00000204983						70	71	71					7																	142459862		2203	4300	6503	PRSS1	SO:0001583	missense	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.438C>A	7.37:g.142459862C>A	ENSP00000308720:p.Asn146Lys	Somatic	0	89	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N146K	ENST00000311737.7	37	c.438	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234863	0.39498	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88354	-2.37;-2.37;-2.37	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	N	0.02658	-0.545	0.46149	D	0.998893	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.89571	0.3813	10	0.87932	D	0	.	14.0086	0.64481	0.0:1.0:0.0:0.0	.	160;146	E7EQ64;P07477	.;TRY1_HUMAN	K	160;146;136;96	ENSP00000417854:N160K;ENSP00000308720:N146K;ENSP00000419912:N96K	ENSP00000308720:N146K	N	+	3	2	PRSS1	142139436	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	4.686000	0.61700	1.789000	0.52484	0.398000	0.26397	AAC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	C		-		142459862	1	no_errors	ENST00000311737	ensembl	human	known	74_37	missense	SNP	1.000	A	A	142459862	C	A	142459862	3	1	67	1	0	0	0	0	1	0	0	0	12619	477	17	3	448	3	PRSS1	7	142459862	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	15112204	142459862	16678801	30	3646											
FAM131B	9715	genome.wustl.edu	37	chr7	143053674	143053674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccttcctcctcatcaAaggactgcacacctgaggat	7	16	2	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr7:143053674A>G	ENST00000409408.1	-	6	2676	c.968T>C	c.(967-969)tTt>tCt	p.F323S	FAM131B_ENST00000443739.2_Missense_Mutation_p.F351S|FAM131B_ENST00000409222.3_Missense_Mutation_p.F323S|FAM131B_ENST00000409578.1_Missense_Mutation_p.F339S|FAM131B_ENST00000409346.1_Missense_Mutation_p.F323S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	323										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CTCCTCATCAAAGGACTGCAC	0.597																																																	0								ENSG00000159784						157	124	135					7																	143053674		2203	4300	6503	FAM131B	SO:0001583	missense	0			-	HGNC	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.968T>C	7.37:g.143053674A>G	ENSP00000387017:p.Phe323Ser	Somatic	0	60	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP							NULL	p.F351S	ENST00000409408.1	37	c.1052	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891966	0.72524	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.81	5.81	0.92471	.	0.284530	0.36740	N	0.002436	T	0.43897	0.1268	L	0.44542	1.39	0.50039	D	0.999841	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.986	T	0.34875	-0.9811	10	0.87932	D	0	-13.1325	14.741	0.69455	1.0:0.0:0.0:0.0	.	339;323	Q86XD5-2;Q86XD5	.;F131B_HUMAN	S	351;339;323;327;323;323	ENSP00000410603:F351S;ENSP00000386568:F339S;ENSP00000386984:F323S;ENSP00000387017:F323S;ENSP00000387147:F323S	ENSP00000387147:F323S	F	-	2	0	FAM131B	142763796	1.000000	0.71417	0.991000	0.47740	0.568000	0.35870	6.959000	0.76031	2.217000	0.71921	0.533000	0.62120	TTT	-	NULL		0.597	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	protein_coding	OTTHUMT00000328057.1	A	NM_014690	-		143053674	-1	no_errors	ENST00000443739	ensembl	human	known	74_37	missense	SNP	1.000	G	G	143053674	A	G	143053674	3	3	67	1	0	0	0	0	1	0	0	0	5442	14	1	5	34	5	FAM131B	7	143053674	Missense_Mutation	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	593812	143053674	16084989	31	3647											
OTUD6B	51633	genome.wustl.edu	37	chr8	92096322	92096322	+	Frame_Shift_Del	DEL	A	A	-													atagttggtgaagaatattcAaaaaaaccactaatacttgt							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr8:92096322delA	ENST00000285420.4	+	6	966	c.867delA	c.(865-867)tcafs	p.S289fs	OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.S158fs	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	259				VNIVTENCS -> GKHSY (in Ref. 1; AAD34073). {ECO:0000305}.			cysteine-type peptidase activity (GO:0008234)	p.K261fs*3(1)|p.K291fs*3(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAGAATATTCAAAAAAACCAC	0.284																																																	2	Deletion - Frameshift(2)	large_intestine(2)						ENSG00000155100			1,4251		0,1,2125	47	42	44			2.9	0	8		45	6,8230		0,6,4112	no	frameshift	OTUD6B	NM_016023.3		0,7,6237	A1A1,A1R,RR		0.0729,0.0235,0.0561			92096322	7,12481	2198	4292	6490	OTUD6B	SO:0001589	frameshift_variant	0				HGNC		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.867delA	8.37:g.92096322delA	ENSP00000285420:p.Ser289fs	Somatic	0	97	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Frame_Shift_Del	DEL							pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.K291fs	ENST00000285420.4	37	c.867	CCDS6253.2	8																																																																																			-	pfam_OTU,pfscan_OTU		0.284	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	protein_coding	OTTHUMT00000319968.1	A	NM_016023			92096322	1	no_errors	ENST00000285420	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	92096322	A	-	92096322	7	5	67	1	0	1	0	1	0	0	0	0	11319	117	5	0	889	0	OTUD6B	8	92096322	Frame_Shift_Del	DEL	A	TCGA-DX-A6B8-01A-11D-A307-09		92096322	54267700	32	3648											
GSDMD	79792	genome.wustl.edu	37	chr8	144642051	144642051	+	Missense_Mutation	SNP	G	G	T													aggcaaagatcgcaggcgggGccgcggtgtctgacagctcc							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr8:144642051G>T	ENST00000526406.1	+	6	1205	c.322G>T	c.(322-324)Gcc>Tcc	p.A108S	GSDMD_ENST00000262580.4_Missense_Mutation_p.A108S|GSDMD_ENST00000533063.1_Missense_Mutation_p.A156S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	108					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGCAGGCGGGGCCGCGGTGTC	0.617																																																	0								ENSG00000104518						45	47	46					8																	144642051		2201	4298	6499	GSDMD	SO:0001583	missense	0			-	HGNC	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.322G>T	8.37:g.144642051G>T	ENSP00000433209:p.Ala108Ser	Somatic	0	87	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	24	42.86	D3DWJ9|Q96Q98	Missense_Mutation	SNP							pfam_Gasdermin	p.A108S	ENST00000526406.1	37	c.322	CCDS34956.1	8	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900991	0.52227	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	4.7	2.81	0.32909	.	0.235038	0.29145	N	0.013011	T	0.43897	0.1268	M	0.68317	2.08	0.09310	N	1	D;P;P	0.71674	0.998;0.848;0.817	D;P;P	0.78314	0.991;0.527;0.471	T	0.19679	-1.0298	10	0.26408	T	0.33	-20.3059	5.032	0.14415	0.1061:0.0:0.6854:0.2085	.	138;108;156	Q6ZRV8;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	108;108;156;108;108;124;108	ENSP00000433209:A108S;ENSP00000434386:A108S;ENSP00000433958:A156S;ENSP00000262580:A108S;ENSP00000434452:A108S;ENSP00000436684:A124S;ENSP00000437065:A108S	ENSP00000262580:A108S	A	+	1	0	GSDMD	144713194	0.752000	0.28338	0.790000	0.31976	0.062000	0.15995	2.697000	0.47060	2.455000	0.83008	0.543000	0.68304	GCC	-	pfam_Gasdermin		0.617	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GSDMD	protein_coding	OTTHUMT00000382046.3	G	NM_024736	-		144642051	1	no_errors	ENST00000262580	ensembl	human	known	74_37	missense	SNP	0.074	T	T	144642051	G	T	144642051	3	4	67	1	0	0	0	0	1	0	0	0	6821	1203	42	3	328	3	GSDMD	8	144642051	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	52545729	144642051	1721971	33	3649	52	2									
GSDMD	79792	genome.wustl.edu	37	chr8	144642052	144642052	+	Missense_Mutation	SNP	C	C	A													ggcaaagatcgcaggcggggCcgcggtgtctgacagctcca							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr8:144642052C>A	ENST00000526406.1	+	6	1206	c.323C>A	c.(322-324)gCc>gAc	p.A108D	GSDMD_ENST00000262580.4_Missense_Mutation_p.A108D|GSDMD_ENST00000533063.1_Missense_Mutation_p.A156D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	108					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCAGGCGGGGCCGCGGTGTCT	0.612																																																	0								ENSG00000104518						45	47	46					8																	144642052		2201	4298	6499	GSDMD	SO:0001583	missense	0			-	HGNC	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.323C>A	8.37:g.144642052C>A	ENSP00000433209:p.Ala108Asp	Somatic	0	87	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	D3DWJ9|Q96Q98	Missense_Mutation	SNP							pfam_Gasdermin	p.A108D	ENST00000526406.1	37	c.323	CCDS34956.1	8	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909706	0.72983	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.7	3.8	0.43715	.	0.235038	0.29145	N	0.013011	T	0.51736	0.1692	M	0.78801	2.425	0.09310	N	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.83275	0.996;0.952;0.919	T	0.35076	-0.9803	10	0.49607	T	0.09	-20.3059	9.0673	0.36471	0.0:0.8964:0.0:0.1036	.	138;108;156	Q6ZRV8;P57764;G3V1A6	.;GSDMD_HUMAN;.	D	108;108;156;108;108;124;108	ENSP00000433209:A108D;ENSP00000434386:A108D;ENSP00000433958:A156D;ENSP00000262580:A108D;ENSP00000434452:A108D;ENSP00000436684:A124D;ENSP00000437065:A108D	ENSP00000262580:A108D	A	+	2	0	GSDMD	144713195	0.741000	0.28217	0.752000	0.31206	0.057000	0.15508	3.289000	0.51747	2.455000	0.83008	0.543000	0.68304	GCC	-	pfam_Gasdermin		0.612	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GSDMD	protein_coding	OTTHUMT00000382046.3	C	NM_024736	-		144642052	1	no_errors	ENST00000262580	ensembl	human	known	74_37	missense	SNP	0.067	A	A	144642052	C	A	144642052	3	1	67	1	0	0	0	0	1	0	0	0	6821	739	26	3	329	3	GSDMD	8	144642052	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	1	144642052	1721970	34	3650	52	2									
DOCK8	81704	genome.wustl.edu	37	chr9	379812	379812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtccgtggtggccatcGccaacagtctgcacaacagc	11	14	1	0	rs138519226	byFrequency	TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr9:379812G>A	ENST00000453981.1	+	21	2594	c.2482G>A	c.(2482-2484)Gcc>Acc	p.A828T	DOCK8_ENST00000469391.1_Missense_Mutation_p.A760T|DOCK8_ENST00000432829.2_Missense_Mutation_p.A760T|DOCK8_ENST00000382331.1_Missense_Mutation_p.A130T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A295T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	828					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)		GGTGGCCATCGCCAACAGTCT	0.572																																																	0								ENSG00000107099	G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	133	109	117		2278,2278,2482	5.4	1	9	dbSNP_134	117	5,8595	5.0+/-18.6	0,5,4295	yes	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	58,58,58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign,benign,benign	760/2000,760/2032,828/2100	379812	5,13001	2203	4300	6503	DOCK8	SO:0001583	missense	0			-	HGNC	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	ENST00000453981.1:c.2482G>A	9.37:g.379812G>A	ENSP00000408464:p.Ala828Thr	Somatic	0	150	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	25	50.00	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.A828T	ENST00000453981.1	37	c.2482	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943101	0.73672	0.0	5.81E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.45	5.45	0.79879	.	0.190963	0.45361	D	0.000371	T	0.27933	0.0688	L	0.38531	1.155	0.42544	D	0.993081	P;B;B;B	0.49696	0.927;0.002;0.006;0.002	B;B;B;B	0.39217	0.294;0.004;0.007;0.004	T	0.06679	-1.0813	10	0.51188	T	0.08	.	19.2789	0.94044	0.0:0.0:1.0:0.0	.	130;760;295;828	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	T	828;828;760;760;130;295	ENSP00000408464:A828T;ENSP00000394888:A760T;ENSP00000419438:A760T;ENSP00000371768:A130T;ENSP00000371766:A295T	ENSP00000287364:A828T	A	+	1	0	DOCK8	369812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.589000	0.74080	2.561000	0.86390	0.555000	0.69702	GCC	-	NULL		0.572	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307	rs138519226		379812	1	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	379812	G	A	379812	3	1	67	1	0	0	0	0	1	0	0	0	4695	1087	38	1	2564	1	DOCK8	9	379812	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		379812	140833619	35	3651											
TAF1L	138474	genome.wustl.edu	37	chr9	32635336	32635336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaattcttcatttgccGtgagttcagtgattaggctg	10	8	4	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr9:32635336G>A	ENST00000242310.4	-	1	331	c.242C>T	c.(241-243)aCg>aTg	p.T81M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	81					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.T81K(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCATTTGCCGTGAGTTCAGT	0.522																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000122728						161	156	158					9																	32635336		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.242C>T	9.37:g.32635336G>A	ENSP00000418379:p.Thr81Met	Somatic	0	207	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	77	11.36	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T81M	ENST00000242310.4	37	c.242	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266356	0.40095	.	.	ENSG00000122728	ENST00000242310	T	0.08896	3.04	1.04	1.04	0.20106	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	L	0.47716	1.5	0.44395	D	0.997307	D	0.76494	0.999	D	0.75020	0.985	T	0.01305	-1.1390	10	0.45353	T	0.12	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	81	Q8IZX4	TAF1L_HUMAN	M	81	ENSP00000418379:T81M	ENSP00000418379:T81M	T	-	2	0	TAF1L	32625336	1.000000	0.71417	0.753000	0.31225	0.104000	0.19210	4.161000	0.58170	0.507000	0.28148	0.195000	0.17529	ACG	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd		0.522	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32635336	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32635336	G	A	32635336	3	1	67	1	0	0	0	0	1	0	0	0	15530	1145	40	1	5242	1	TAF1L	9	32635336	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	32255524	32635336	108578095	36	3652											
FAM75A6	389730	genome.wustl.edu	37	chr9	43626916	43626916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccagttgtctccggaGttcaggactgactggaaagt	12	9	2	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr9:43626916G>C	ENST00000332857.6	-	4	1799	c.1771C>G	c.(1771-1773)Ctc>Gtc	p.L591V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	591					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTCTCCGGAGTTCAGGACTG	0.493																																																	0								ENSG00000185775						1	1	1					9																	43626916		38	123	161	SPATA31A6	SO:0001583	missense	0			-	HGNC		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1771C>G	9.37:g.43626916G>C	ENSP00000329825:p.Leu591Val	Somatic	0	177	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	73	44.70		Missense_Mutation	SNP							NULL	p.L591V	ENST00000332857.6	37	c.1771	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	0.268	-0.995000	0.02145	.	.	ENSG00000185775	ENST00000332857	T	0.09911	2.93	2.44	1.53	0.23141	.	0.805627	0.10828	N	0.629668	T	0.16171	0.0389	L	0.41710	1.295	0.09310	N	1	D	0.55605	0.972	P	0.61592	0.891	T	0.23368	-1.0190	10	0.14656	T	0.56	-8.1591	6.7059	0.23250	0.0:0.0:0.7185:0.2815	.	591	Q5VVP1	F75A6_HUMAN	V	591	ENSP00000329825:L591V	ENSP00000329825:L591V	L	-	1	0	FAM75A6	43566912	0.011000	0.17503	0.002000	0.10522	0.002000	0.02628	0.323000	0.19593	0.620000	0.30215	-1.306000	0.01317	CTC	-	NULL		0.493	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	protein_coding	OTTHUMT00000036987.1	G	NM_001145196	-		43626916	-1	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	SNP	0.002	C	C	43626916	G	C	43626916	3	2	67	1	0	0	0	0	1	0	0	0	5624	1029	36	4	2264	4	FAM75A6	9	43626916	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	10991580	43626916	97586515	37	3653											
ZFYVE27	118813	genome.wustl.edu	37	chr10	99511211	99511211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaagagtttaaagatGcgattgaggtgggtggccct	15	5	0	5			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr10:99511211G>T	ENST00000393677.4	+	8	1072	c.868G>T	c.(868-870)Gcg>Tcg	p.A290S	ZFYVE27_ENST00000453958.2_Missense_Mutation_p.A290S|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.A258S|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.A197S|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.A290S|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.A204S|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.A172S|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.A295S	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	290	Necessary for interaction with VAPA and function in cell projections formation.				cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GTTTAAAGATGCGATTGAGGT	0.517																																																	0								ENSG00000155256						108	85	93					10																	99511211		2203	4300	6503	ZFYVE27	SO:0001583	missense	0			-	HGNC	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.868G>T	10.37:g.99511211G>T	ENSP00000377282:p.Ala290Ser	Somatic	0	174	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A295S	ENST00000393677.4	37	c.883	CCDS31263.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436482	0.83885	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.49139	0.8;0.79;0.98;0.84;1.36;1.18;1.2	5.55	5.55	0.83447	Zinc finger, FYVE/PHD-type (1);	0.046464	0.85682	D	0.000000	T	0.60209	0.2251	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.985;0.985;0.98;0.982;0.962;0.991;0.918	T	0.57183	-0.7855	10	0.39692	T	0.17	-25.3404	19.4978	0.95081	0.0:0.0:1.0:0.0	.	258;197;172;204;295;290;290	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	S	258;204;172;197;290;290;290;295;273	ENSP00000337993:A258S;ENSP00000359642:A197S;ENSP00000377282:A290S;ENSP00000401580:A290S;ENSP00000353069:A290S;ENSP00000348593:A295S;ENSP00000409594:A273S	ENSP00000337993:A258S	A	+	1	0	ZFYVE27	99501201	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.853000	0.75435	2.608000	0.88229	0.462000	0.41574	GCG	-	superfamily_Znf_FYVE_PHD		0.517	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	protein_coding	OTTHUMT00000049745.2	G	NM_144588	-		99511211	1	no_errors	ENST00000356257	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99511211	G	T	99511211	3	4	67	1	0	0	0	0	1	0	0	0	17676	1319	46	3	909	3	ZFYVE27	10	99511211	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		99511211	36023536	38	3654											
CPN1	1369	genome.wustl.edu	37	chr10	101841286	101841286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaccttgtacagcgtccGcacaagatcatcatagcggt	9	12	2	1	rs567825978		TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr10:101841286G>A	ENST00000370418.3	-	1	348	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	33	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACAGCGTCCGCACAAGATCA	0.577													G|||	1	0.000199681	0	0	5008	,	,		19493	0.001		0	False		,,,				2504	0																0								ENSG00000120054						81	70	74					10																	101841286		2203	4300	6503	CPN1	SO:0001583	missense	0			-	HGNC	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.97C>T	10.37:g.101841286G>A	ENSP00000359446:p.Arg33Trp	Somatic	0	99	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B1AP59	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.R33W	ENST00000370418.3	37	c.97	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967330	0.53507	.	.	ENSG00000120054	ENST00000370418	T	0.03496	3.91	5.45	3.37	0.38596	Peptidase M14, carboxypeptidase A (2);	0.059738	0.64402	D	0.000003	T	0.15003	0.0362	M	0.75085	2.285	0.47476	D	0.999431	D	0.71674	0.998	P	0.61940	0.896	T	0.02093	-1.1215	10	0.52906	T	0.07	-14.6096	15.2683	0.73681	0.0:0.0:0.7058:0.2942	.	33	P15169	CBPN_HUMAN	W	33	ENSP00000359446:R33W	ENSP00000359446:R33W	R	-	1	2	CPN1	101831276	0.997000	0.39634	0.958000	0.39756	0.466000	0.32739	1.407000	0.34657	1.245000	0.43885	0.555000	0.69702	CGG	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	protein_coding	OTTHUMT00000049828.1	G	NM_001308	-		101841286	-1	no_errors	ENST00000370418	ensembl	human	known	74_37	missense	SNP	0.997	A	A	101841286	G	A	101841286	3	1	67	1	0	0	0	0	1	0	0	0	3811	1086	38	1	1315	1	CPN1	10	101841286	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	2330075	101841286	33693461	39	3655											
SUFU	51684	genome.wustl.edu	37	chr10	104352400	104352401	+	Frame_Shift_Del	DEL	AA	AA	-													cctttggataacagtgagtcAagaattcagcacatgctgct							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr10:104352400_104352401delAA	ENST00000369902.3	+	4	682_683	c.516_517delAA	c.(514-519)tcaagafs	p.R173fs	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Frame_Shift_Del_p.R173fs|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Frame_Shift_Del_p.R173fs	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	173					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACAGTGAGTCAAGAATTCAGCA	0.55			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0								ENSG00000107882																																			SUFU	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.516_517delAA	10.37:g.104352400_104352401delAA	ENSP00000358918:p.Arg173fs	Somatic	0	53	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Frame_Shift_Del	DEL							pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk	p.R173fs	ENST00000369902.3	37	c.516_517	CCDS7537.1	10																																																																																			-	pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk		0.55	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	protein_coding	OTTHUMT00000050089.1	AA	NM_016169			104352401	1	no_errors	ENST00000369902	ensembl	human	known	74_37	frame_shift_del	DEL	0.987:1.000	-	-	104352401	AA	-	104352400	7	5	67	1	0	1	0	1	0	0	0	0	15375	117	5	0	530	0	SUFU	10	104352400	Frame_Shift_Del	DEL	AA	TCGA-DX-A6B8-01A-11D-A307-09	2511114	104352400	31182347	40	3656											
CALHM1	255022	genome.wustl.edu	37	chr10	105215261	105215261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggggccgtggccaGtgtcccgtgggtgtgaccca	18	11	0	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr10:105215261G>A	ENST00000329905.5	-	2	935	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	267					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GCCGTGGCCAGTGTCCCGTGG	0.632																																																	0								ENSG00000185933						70	49	56					10																	105215261		2203	4300	6503	CALHM1	SO:0001819	synonymous_variant	0			-	HGNC	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.799C>T	10.37:g.105215261G>A		Somatic	1	162	0.61		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	1	97.14	Q5W091	Silent	SNP							NULL	p.L267	ENST00000329905.5	37	c.799	CCDS7550.1	10																																																																																			-	NULL		0.632	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	protein_coding	OTTHUMT00000050165.1	G	NM_001001412	-		105215261	-1	no_errors	ENST00000329905	ensembl	human	known	74_37	silent	SNP	0.115	A	A	105215261	G	A	105215261	2	1	67	1	0	0	0	0	0	0	0	1	2584	1020	36	2		2	CALHM1	10	105215261	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	862861	105215261	30319486	41	3657											
OR52L1	338751	genome.wustl.edu	37	chr11	6007790	6007790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgactccatggaggagaatGcatggatgaagaacatctgg	13	7	1	4			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr11:6007790G>T	ENST00000332249.4	-	1	425	c.371C>A	c.(370-372)gCa>gAa	p.A124E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGAGAATGCATGGATGAA	0.547																																					Melanoma(121;653 1666 10547 22796 51255)												0								ENSG00000183313						53	54	54					11																	6007790		2120	4252	6372	OR52L1	SO:0001583	missense	0			-	HGNC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.371C>A	11.37:g.6007790G>T	ENSP00000330338:p.Ala124Glu	Somatic	0	118	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	5	82.76	B2RPA6|Q6IFK9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A124E	ENST00000332249.4	37	c.371	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613225	0.46631	.	.	ENSG00000183313	ENST00000332249	T	0.00402	7.56	3.5	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001073	T	0.00724	0.0024	M	0.66560	2.04	0.25151	N	0.990428	D	0.76494	0.999	D	0.80764	0.994	T	0.50625	-0.8806	10	0.39692	T	0.17	.	5.549	0.17079	0.116:0.0:0.6849:0.1991	.	124	Q8NGH7	O52L1_HUMAN	E	124	ENSP00000330338:A124E	ENSP00000330338:A124E	A	-	2	0	OR52L1	5964366	0.000000	0.05858	1.000000	0.80357	0.940000	0.58332	-0.067000	0.11579	1.662000	0.50781	0.313000	0.20887	GCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	protein_coding	OTTHUMT00000383754.1	G	NM_001005173	-		6007790	-1	no_errors	ENST00000332249	ensembl	human	known	74_37	missense	SNP	0.676	T	T	6007790	G	T	6007790	3	4	67	1	0	0	0	0	1	0	0	0	11127	1319	46	3	622	3	OR52L1	11	6007790	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		6007790	128998726	42	3658											
OR4X2	119764	genome.wustl.edu	37	chr11	48267306	48267306	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggtcatcttgctccatctGagaacctggagctctgaagg	11	10	4	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr11:48267306G>C	ENST00000302329.3	+	1	699	c.651G>C	c.(649-651)ctG>ctC	p.L217L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCTCCATCTGAGAACCTGGA	0.522																																																	0								ENSG00000172208						147	130	136					11																	48267306		2201	4298	6499	OR4X2	SO:0001819	synonymous_variant	0			-	HGNC	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.651G>C	11.37:g.48267306G>C		Somatic	0	52	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	B2RNK3|Q6IF73|Q96R63	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L217	ENST00000302329.3	37	c.651	CCDS31486.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.522	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	protein_coding	OTTHUMT00000383376.2	G	NM_001004727	-		48267306	1	no_errors	ENST00000302329	ensembl	human	known	74_37	silent	SNP	0.126	C	C	48267306	G	C	48267306	2	2	67	1	0	0	0	0	0	0	0	1	11087	1277	45	4		4	OR4X2	11	48267306	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	42259516	48267306	86739210	43	3659											
C11orf9	745	genome.wustl.edu	37	chr11	61541466	61541466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctaccgcgtggatgcGgacaagggcttcaacttttc	10	13	2	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr11:61541466G>A	ENST00000278836.5	+	8	1239	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Silent_p.A8A|MYRF_ENST00000265460.5_Silent_p.A372A	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	381					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCGTGGATGCGGACAAGGGCT	0.637																																																	0								ENSG00000124920						67	58	61					11																	61541466		2202	4299	6501	MYRF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1143G>A	11.37:g.61541466G>A		Somatic	0	49	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	O43582|Q9P1Q6	Silent	SNP							pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.A381	ENST00000278836.5	37	c.1143	CCDS44622.1	11																																																																																			-	superfamily_p53-like_TF_DNA-bd		0.637	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	protein_coding	OTTHUMT00000398519.2	G	NM_013279	-		61541466	1	no_errors	ENST00000278836	ensembl	human	known	74_37	silent	SNP	0.259	A	A	61541466	G	A	61541466	2	1	67	1	0	0	0	0	0	0	0	1	1673	1103	39	1		1	C11orf9	11	61541466	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	13274160	61541466	73465050	44	3660											
MAP3K11	4296	genome.wustl.edu	37	chr11	65374848	65374848	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcggtccacctgctgcAgcagcagcgtcagctcgcgc	13	17	1	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr11:65374848A>T	ENST00000530153.1	-	5	1132	c.611T>A	c.(610-612)cTg>cAg	p.L204Q	MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.L461Q					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CACCTGCTGCAGCAGCAGCGT	0.731																																																	0								ENSG00000173327						3	3	3					11																	65374848		1592	3182	4774	MAP3K11	SO:0001583	missense	0			-	HGNC		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.611T>A	11.37:g.65374848A>T	ENSP00000433886:p.Leu204Gln	Somatic	0	13	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67		Missense_Mutation	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.L461Q	ENST00000530153.1	37	c.1382		11	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687671	0.48097	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	T;T	0.76316	-0.87;-1.01	4.46	4.46	0.54185	.	0.187154	0.37483	N	0.002072	T	0.77432	0.4129	N	0.20685	0.6	0.44762	D	0.99776	D	0.60575	0.988	D	0.64042	0.921	T	0.80555	-0.1330	10	0.87932	D	0	.	11.9774	0.53100	1.0:0.0:0.0:0.0	.	461	Q16584	M3K11_HUMAN	Q	461;204	ENSP00000309597:L461Q;ENSP00000433886:L204Q	ENSP00000309597:L461Q	L	-	2	0	MAP3K11	65131424	1.000000	0.71417	0.991000	0.47740	0.004000	0.04260	4.340000	0.59328	2.001000	0.58596	0.402000	0.26972	CTG	-	pirsf_MAPKKK9/10/11		0.731	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	protein_coding	OTTHUMT00000390233.2	A		-		65374848	-1	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65374848	A	T	65374848	3	4	67	1	0	0	0	0	1	0	0	0	9247	188	7	5	1185	5	MAP3K11	11	65374848	Missense_Mutation	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	3833382	65374848	69631668	45	3661											
MCAM	4162	genome.wustl.edu	37	chr11	119183296	119183296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaacacctgatttccaCgcggtccccttccttcagca	6	17	1	1	rs560440649		TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr11:119183296C>T	ENST00000264036.4	-	7	816	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	MCAM_ENST00000530144.2_5'Flank|MCAM_ENST00000392814.1_Missense_Mutation_p.V217M	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	268	Ig-like C2-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGATTTCCACGCGGTCCCCT	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18613	0		0	False		,,,				2504	0																0								ENSG00000076706						121	113	116					11																	119183296		2199	4295	6494	MCAM	SO:0001583	missense	0			-	HGNC	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.802G>A	11.37:g.119183296C>T	ENSP00000264036:p.Val268Met	Somatic	0	63	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP							pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V268M	ENST00000264036.4	37	c.802	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365413	0.82463	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.05199	3.48;3.48	4.7	4.7	0.59300	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32526	0.0832	M	0.91196	3.185	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.31024	-0.9958	9	0.87932	D	0	-26.5683	15.2962	0.73910	0.0:1.0:0.0:0.0	.	268	P43121	MUC18_HUMAN	M	268;217	ENSP00000264036:V268M;ENSP00000376561:V217M	ENSP00000264036:V268M	V	-	1	0	MCAM	118688506	1.000000	0.71417	0.952000	0.39060	0.955000	0.61496	5.572000	0.67411	2.599000	0.87857	0.561000	0.74099	GTG	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.582	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	protein_coding	OTTHUMT00000388332.2	C		-		119183296	-1	no_errors	ENST00000264036	ensembl	human	known	74_37	missense	SNP	0.996	T	T	119183296	C	T	119183296	3	4	67	1	0	0	0	0	1	0	0	0	9370	536	19	1	1178	1	MCAM	11	119183296	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	53808448	119183296	15823220	46	3662											
ENO2	2026	genome.wustl.edu	37	chr12	7028828	7028828	+	Frame_Shift_Del	DEL	A	A	-													cagagttttatcgtgatggcAaatatgacttggacttcaag							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr12:7028828delA	ENST00000535366.1	+	7	1392	c.766delA	c.(766-768)aaafs	p.K256fs	ENO2_ENST00000229277.1_Frame_Shift_Del_p.K256fs|ENO2_ENST00000545045.2_Frame_Shift_Del_p.K137fs|ENO2_ENST00000538763.1_Frame_Shift_Del_p.K213fs|ENO2_ENST00000541477.1_Frame_Shift_Del_p.K256fs|ENO2_ENST00000544774.1_Frame_Shift_Del_p.K213fs			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	256					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCGTGATGGCAAATATGACTT	0.517																																																	0								ENSG00000111674						166	132	143					12																	7028828		2203	4300	6503	ENO2	SO:0001589	frameshift_variant	0				HGNC	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.766delA	12.37:g.7028828delA	ENSP00000437402:p.Lys256fs	Somatic	0	78	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B7Z2X9|Q96J33	Frame_Shift_Del	DEL							pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.K256fs	ENST00000535366.1	37	c.766	CCDS8570.1	12																																																																																			-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.517	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	protein_coding	OTTHUMT00000401786.1	A				7028828	1	no_errors	ENST00000229277	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	7028828	A	-	7028828	7	5	67	1	0	1	0	1	0	0	0	0	5124	131	5	0	792	0	ENO2	12	7028828	Frame_Shift_Del	DEL	A	TCGA-DX-A6B8-01A-11D-A307-09		7028828	126823067	47	3663											
KRT74	121391	genome.wustl.edu	37	chr12	52965747	52965747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttaagcaccacaaacTcattctctgctgtcgtgcgc	6	15	3	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr12:52965747T>G	ENST00000305620.2	-	3	775	c.728A>C	c.(727-729)gAg>gCg	p.E243A	KRT74_ENST00000549343.1_Missense_Mutation_p.E243A	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	243	Coil 1B.|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)		CACCACAAACTCATTCTCTGC	0.527																																																	0								ENSG00000170484						168	167	167					12																	52965747		2203	4300	6503	KRT74	SO:0001583	missense	0			-	HGNC	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.728A>C	12.37:g.52965747T>G	ENSP00000307240:p.Glu243Ala	Somatic	0	129	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B5MD61|Q86Y45	Missense_Mutation	SNP							pfam_IF,prints_Keratin_II	p.E243A	ENST00000305620.2	37	c.728	CCDS8832.1	12	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162629	0.78226	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.93953	-3.32;-3.32	3.92	3.92	0.45320	Filament (1);	0.220610	0.23121	N	0.051691	D	0.95822	0.8640	M	0.85945	2.785	0.46478	D	0.999067	P	0.52463	0.953	P	0.56042	0.79	D	0.96461	0.9341	10	0.87932	D	0	.	13.8397	0.63430	0.0:0.0:0.0:1.0	.	243	Q7RTS7	K2C74_HUMAN	A	243	ENSP00000447447:E243A;ENSP00000307240:E243A	ENSP00000307240:E243A	E	-	2	0	KRT74	51252014	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.484000	0.81180	2.014000	0.59158	0.533000	0.62120	GAG	-	pfam_IF,prints_Keratin_II		0.527	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	protein_coding	OTTHUMT00000405324.1	T	NM_175053	-		52965747	-1	no_errors	ENST00000305620	ensembl	human	known	74_37	missense	SNP	1.000	G	G	52965747	T	G	52965747	3	3	67	1	0	0	0	0	1	0	0	0	8489	1551	54	5	889	5	KRT74	12	52965747	Missense_Mutation	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09	45936919	52965747	80886148	48	3664											
HMGB1	3146	genome.wustl.edu	37	chr13	31035551	31035551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatcttcctcctcctcCtcatcctcttcatcttcctc	0	20	7	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr13:31035551C>A	ENST00000405805.1	-	5	1531	c.591G>T	c.(589-591)gaG>gaT	p.E197D	HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.E197D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E197D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E197D|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	197	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		cctcctcctcctcatcctctt	0.388																																																	0								ENSG00000189403						15	14	14					13																	31035551		1887	4079	5966	HMGB1	SO:0001583	missense	0			-	HGNC	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.591G>T	13.37:g.31035551C>A	ENSP00000384678:p.Glu197Asp	Somatic	0	54	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E197D	ENST00000405805.1	37	c.591	CCDS9335.1	13	.	.	.	.	.	.	.	.	.	.	C	7.381	0.628793	0.14257	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.57	-1.36	0.09085	Armadillo-like helical (1);	0.150573	0.29684	N	0.011471	T	0.19565	0.0470	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.02371	-1.1169	10	0.54805	T	0.06	.	4.1171	0.10086	0.1171:0.1913:0.1151:0.5765	.	158;197	B3KQ05;P09429	.;HMGB1_HUMAN	D	197	ENSP00000384678:E197D;ENSP00000343040:E197D;ENSP00000345347:E197D;ENSP00000382417:E197D	ENSP00000343040:E197D	E	-	3	2	HMGB1	29933551	0.000000	0.05858	0.992000	0.48379	0.963000	0.63663	-2.218000	0.01219	-0.283000	0.09115	-0.377000	0.06932	GAG	-	NULL		0.388	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	protein_coding	OTTHUMT00000303998.2	C	NM_002128	-		31035551	-1	no_errors	ENST00000339872	ensembl	human	known	74_37	missense	SNP	0.679	A	A	31035551	C	A	31035551	3	1	67	1	0	0	0	0	1	0	0	0	7227	680	24	3	60	3	HMGB1	13	31035551	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		31035551	84134327	49	3665											
HIF1A	3091	genome.wustl.edu	37	chr14	62187220	62187220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccacataatgtgagttcGcatcttgataaggcctctgt	8	10	2	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr14:62187220G>A	ENST00000337138.4	+	2	421	c.156G>A	c.(154-156)tcG>tcA	p.S52S	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Silent_p.S53S|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000557538.1_5'UTR|HIF1A_ENST00000539097.1_Silent_p.S76S|HIF1A_ENST00000323441.6_Silent_p.S52S	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	52	Interaction with TSGA10. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|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, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|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)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ATGTGAGTTCGCATCTTGATA	0.428																																																	0								ENSG00000100644						113	104	107					14																	62187220		2203	4300	6503	HIF1A	SO:0001819	synonymous_variant	0			-	HGNC	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.156G>A	14.37:g.62187220G>A		Somatic	0	102	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP							pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.S76	ENST00000337138.4	37	c.228	CCDS9753.1	14																																																																																			-	superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.428	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	protein_coding	OTTHUMT00000276977.2	G	NM_001530	-		62187220	1	no_errors	ENST00000539097	ensembl	human	known	74_37	silent	SNP	0.024	A	A	62187220	G	A	62187220	2	1	67	1	0	0	0	0	0	0	0	1	7105	1074	38	1		1	HIF1A	14	62187220	Silent	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		62187220	45162320	50	3666											
SYT16	83851	genome.wustl.edu	37	chr14	62550996	62550996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgtctcatggaggggCgccagagctgttggtggggc	19	9	1	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr14:62550996C>T	ENST00000430451.2	+	5	1714	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	506					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CATGGAGGGGCGCCAGAGCTG	0.552																																																	0								ENSG00000139973						94	94	94					14																	62550996		1996	4159	6155	SYT16	SO:0001583	missense	0			-	HGNC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1517C>T	14.37:g.62550996C>T	ENSP00000394700:p.Ala506Val	Somatic	0	69	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A506V	ENST00000430451.2	37	c.1517	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	5.516	0.280188	0.10458	.	.	ENSG00000139973	ENST00000430451	T	0.03358	3.96	5.44	2.02	0.26589	C2 calcium/lipid-binding domain, CaLB (1);	0.446785	0.24172	N	0.040890	T	0.00875	0.0029	N	0.00392	-1.555	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44034	-0.9354	10	0.02654	T	1	-8.4549	5.8926	0.18921	0.0:0.3768:0.0:0.6232	.	506	Q17RD7	SYT16_HUMAN	V	506	ENSP00000394700:A506V	ENSP00000394700:A506V	A	+	2	0	SYT16	61620749	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.782000	0.26788	0.646000	0.30693	0.643000	0.83706	GCG	-	superfamily_C2_dom		0.552	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	protein_coding	OTTHUMT00000411700.1	C	NM_031914	-		62550996	1	no_errors	ENST00000430451	ensembl	human	novel	74_37	missense	SNP	0.999	T	T	62550996	C	T	62550996	3	4	67	1	0	0	0	0	1	0	0	0	15479	768	27	1	1535	1	SYT16	14	62550996	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	363776	62550996	44798544	51	3667											
YY1	7528	genome.wustl.edu	37	chr14	100728670	100728670	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagatattgaccatgagacaGtggttgaagaacagatcatt	10	5	1	6			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr14:100728670G>C	ENST00000262238.4	+	2	969	c.709G>C	c.(709-711)Gtg>Ctg	p.V237L	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	237					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCATGAGACAGTGGTTGAAGA	0.358																																																	0								ENSG00000100811						76	76	76					14																	100728670		2203	4300	6503	YY1	SO:0001583	missense	0			-	HGNC	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.709G>C	14.37:g.100728670G>C	ENSP00000262238:p.Val237Leu	Somatic	0	101	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	Q14935	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.V237L	ENST00000262238.4	37	c.709	CCDS9957.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.97|15.97|15.97	2.990556|2.990556|2.990556	0.54041|0.54041|0.54041	.|.|.	.|.|.	ENSG00000100811|ENSG00000100811|ENSG00000100811	ENST00000554804|ENST00000553625|ENST00000262238	.|.|T	.|.|0.10668	.|.|2.85	5.7|5.7|5.7	5.7|5.7|5.7	0.88788|0.88788|0.88788	.|.|.	.|.|0.073661	.|.|0.53938	.|.|U	.|.|0.000049	T|T|T	0.08935|0.08935|0.08935	0.0221|0.0221|0.0221	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.44570|0.44570|0.44570	D|D|D	0.997537|0.997537|0.997537	.|.|B	.|.|0.14805	.|.|0.011	.|.|B	.|.|0.11329	.|.|0.006	T|T|T	0.35351|0.35351|0.35351	-0.9792|-0.9792|-0.9792	5|5|10	.|.|0.16896	.|.|T	.|.|0.51	.|.|.	20.2628|20.2628|20.2628	0.98456|0.98456|0.98456	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|237	.|.|P25490	.|.|TYY1_HUMAN	H|T|L	65|67|237	.|.|ENSP00000262238:V237L	.|.|ENSP00000262238:V237L	Q|S|V	+|+|+	3|2|1	2|0|0	YY1|YY1|YY1	99798423|99798423|99798423	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.862000|0.862000|0.862000	0.49288|0.49288|0.49288	6.449000|6.449000|6.449000	0.73473|0.73473|0.73473	2.868000|2.868000|2.868000	0.98415|0.98415|0.98415	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	CAG|AGT|GTG	-	pirsf_TF_Yin_yang		0.358	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	protein_coding	OTTHUMT00000318277.1	G	NM_003403	-		100728670	1	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	SNP	1.000	C	C	100728670	G	C	100728670	3	2	67	1	0	0	0	0	1	0	0	0	17514	1029	36	4	715	4	YY1	14	100728670	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	38177674	100728670	6620870	52	3668											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102493601	102493601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttcgtcgcctggatgaaCggtttgagtgtgtaccagat	13	8	0	3			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr14:102493601C>T	ENST00000360184.4	+	45	9026	c.8862C>T	c.(8860-8862)aaC>aaT	p.N2954N		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2954	AAA 4. {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)			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						CCTGGATGAACGGTTTGAGTG	0.488																																																	0								ENSG00000197102						274	232	246					14																	102493601		2203	4300	6503	DYNC1H1	SO:0001819	synonymous_variant	0			-	HGNC	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.8862C>T	14.37:g.102493601C>T		Somatic	0	175	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	5	86.49	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.N2954	ENST00000360184.4	37	c.8862	CCDS9966.1	14																																																																																			-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102493601	1	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	SNP	0.786	T	T	102493601	C	T	102493601	2	4	67	1	0	0	0	0	0	0	0	1	4843	535	19	1		1	DYNC1H1	14	102493601	Silent	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	1764931	102493601	4855939	53	3669											
PACS2	23241	genome.wustl.edu	37	chr14	105843157	105843157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccccgaggcagaggaggAcctggacctcctgtatgaca	12	13	0	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr14:105843157A>G	ENST00000325438.8	+	9	1358	c.854A>G	c.(853-855)gAc>gGc	p.D285G	PACS2_ENST00000430725.2_Missense_Mutation_p.D210G|PACS2_ENST00000447393.1_Missense_Mutation_p.D285G|PACS2_ENST00000458164.2_Missense_Mutation_p.D285G|PACS2_ENST00000547217.1_Missense_Mutation_p.D255G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	285					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCAGAGGAGGACCTGGACCTC	0.662																																																	0								ENSG00000179364						79	67	71					14																	105843157		2202	4300	6502	PACS2	SO:0001583	missense	0			-	HGNC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.854A>G	14.37:g.105843157A>G	ENSP00000321834:p.Asp285Gly	Somatic	0	144	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP							pfam_Phosphofurin_acidic_CS-1	p.D285G	ENST00000325438.8	37	c.854	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015372	0.75161	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.8	4.8	0.61643	.	0.050604	0.85682	D	0.000000	T	0.41282	0.1152	M	0.74647	2.275	0.80722	D	1	D;D;D;P	0.89917	0.998;0.998;1.0;0.867	D;D;D;B	0.83275	0.963;0.984;0.996;0.382	T	0.32107	-0.9919	10	0.54805	T	0.06	-42.9638	13.1551	0.59511	1.0:0.0:0.0:0.0	.	285;285;285;286	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	G	210;285;285;285;255	ENSP00000393524:D210G;ENSP00000321834:D285G;ENSP00000399732:D285G;ENSP00000393559:D285G;ENSP00000449525:D255G	ENSP00000321834:D285G	D	+	2	0	PACS2	104914202	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.339000	0.79282	1.785000	0.52413	0.383000	0.25322	GAC	-	NULL		0.662	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	protein_coding	OTTHUMT00000409209.1	A	XM_377355	-		105843157	1	no_errors	ENST00000458164	ensembl	human	known	74_37	missense	SNP	1.000	G	G	105843157	A	G	105843157	3	3	67	1	0	0	0	0	1	0	0	0	11375	275	10	5	888	5	PACS2	14	105843157	Missense_Mutation	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	3349556	105843157	1506383	54	3670											
HERC2	8924	genome.wustl.edu	37	chr15	28421691	28421691	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggaatgttacagccttcaCttccgccccggcccagtttt	10	14	1	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr15:28421691C>G	ENST00000261609.7	-	63	9677	c.9569G>C	c.(9568-9570)aGt>aCt	p.S3190T		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)		ACAGCCTTCACTTCCGCCCCG	0.493																																																	0								ENSG00000128731						81	88	86					15																	28421691		2203	4300	6503	HERC2	SO:0001583	missense	0			-	HGNC	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.9569G>C	15.37:g.28421691C>G	ENSP00000261609:p.Ser3190Thr	Somatic	0	319	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	8	88.06		Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.S3190T	ENST00000261609.7	37	c.9569	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837512	0.91117	.	.	ENSG00000128731	ENST00000261609	D	0.84370	-1.84	5.65	5.65	0.86999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	N	0.10945	0.07	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	D	0.87274	0.2288	10	0.42905	T	0.14	.	19.7107	0.96095	0.0:1.0:0.0:0.0	.	3190	O95714	HERC2_HUMAN	T	3190	ENSP00000261609:S3190T	ENSP00000261609:S3190T	S	-	2	0	HERC2	26095286	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.659000	0.90383	0.585000	0.79938	AGT	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667	-		28421691	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	1.000	G	G	28421691	C	G	28421691	3	3	67	1	0	0	0	0	1	0	0	0	7060	565	20	4	5059	4	HERC2	15	28421691	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		28421691	74109701	55	3671											
THAP11	57215	genome.wustl.edu	37	chr16	67876994	67876994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccggcgcccatcacTcccactggagaagacgtgaa	11	14	1	3			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr16:67876994T>C	ENST00000303596.1	+	1	782	c.537T>C	c.(535-537)acT>acC	p.T179T	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CGCCCATCACTCCCACTGGAG	0.642																																																	0								ENSG00000168286						96	111	106					16																	67876994		2198	4300	6498	THAP11	SO:0001819	synonymous_variant	0			-	HGNC	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.537T>C	16.37:g.67876994T>C		Somatic	0	86	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	1	93.33	A4UCT5|A8K002|O94795	Silent	SNP							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T179	ENST00000303596.1	37	c.537	CCDS10847.1	16																																																																																			-	NULL		0.642	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	protein_coding	OTTHUMT00000268879.1	T	NM_020457	-		67876994	1	no_errors	ENST00000303596	ensembl	human	known	74_37	silent	SNP	0.999	C	C	67876994	T	C	67876994	2	2	67	1	0	0	0	0	0	0	0	1	15850	1538	54	5		5	THAP11	16	67876994	Silent	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09		67876994	22477759	56	3672											
SMG6	23293	genome.wustl.edu	37	chr17	1968420	1968420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcagtagtggaggcagCaggacaggatgagatcatcg	15	7	1	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr17:1968420C>T	ENST00000263073.6	-	18	4126	c.4076G>A	c.(4075-4077)tGc>tAc	p.C1359Y	SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_Missense_Mutation_p.C1328Y|SMG6_ENST00000354901.4_Missense_Mutation_p.C451Y|SMG6_ENST00000536871.2_Missense_Mutation_p.C451Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1359	PINc.				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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTGGAGGCAGCAGGACAGGAT	0.577																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						243	175	198					17																	1968420		2203	4300	6503	SMG6	SO:0001583	missense	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4076G>A	17.37:g.1968420C>T	ENSP00000263073:p.Cys1359Tyr	Somatic	0	102	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP							pfam_EST1,smart_PIN_dom	p.C1359Y	ENST00000263073.6	37	c.4076	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788470	0.90367	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.24723	2.6;2.59;1.84	5.39	5.39	0.77823	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71593	-0.4546	10	0.87932	D	0	-5.4549	19.1701	0.93574	0.0:1.0:0.0:0.0	.	1359	Q86US8	EST1A_HUMAN	Y	1359;1328;270;451	ENSP00000263073:C1359Y;ENSP00000443920:C1328Y;ENSP00000440283:C451Y	ENSP00000263073:C1359Y	C	-	2	0	SMG6	1915170	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.543000	0.85770	0.650000	0.86243	TGC	-	smart_PIN_dom		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	C		-		1968420	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1968420	C	T	1968420	3	4	67	1	0	0	0	0	1	0	0	0	14805	710	25	2	191	2	SMG6	17	1968420	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		1968420	79226790	57	3673											
TP53	7157	genome.wustl.edu	37	chr17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G													gctgctggtgcaggggccacINSggggggagcagcctctggca					rs56275308|rs587782423		TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr17:7579470_7579471insG	ENST00000269305.4	-	4	405_406	c.216_217insC	c.(214-219)cccgtgfs	p.V73fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V73fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V73fs	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	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	GCAGGGGCCACGGGGGGAGCAG	0.604		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	37	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)|prostate(1)|liver(1)	GRCh37	CI920954	TP53	I		ENSG00000141510																																			TP53	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;		HGNC	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.217dupC	17.37:g.7579476_7579476dupG	ENSP00000269305:p.Val73fs	Somatic	0	78	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	13	71.74	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V72fs	ENST00000269305.4	37	c.217_216	CCDS11118.1	17																																																																																			-	NULL		0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546			7579471	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.001	G	G	7579471	-	G	7579470	7	5	67	1	0	1	1	0	0	0	0	0	16388	536	19	0	1085	0	TP53	17	7579470	Frame_Shift_Ins	INS	-	TCGA-DX-A6B8-01A-11D-A307-09	5611050	7579470	73615740	58	3674											
JUP	3728	genome.wustl.edu	37	chr17	39912102	39912103	+	Frame_Shift_Ins	INS	-	-	GGGGCACATCGCT													gtgcatctccagcgggtcaaINSggggcacatcgctggagtac							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr17:39912102_39912103insGGGGCACATCGCT	ENST00000393931.3	-	14	2249_2250	c.2131_2132insAGCGATGTGCCCC	c.(2131-2133)cttfs	p.L711fs	JUP_ENST00000393930.1_Frame_Shift_Ins_p.L711fs|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Frame_Shift_Ins_p.L711fs	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	711					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CAGCGGGTCAAGGGGCACATCG	0.619																																					Colon(16;42 520 6044 17852 28530)												0								ENSG00000173801																																			JUP	SO:0001589	frameshift_variant	0				HGNC	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2119_2131dupAGCGATGTGCCCC	17.37:g.39912102_39912103insGGGGCACATCGCT	ENSP00000377508:p.Leu711fs	Somatic					0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Frame_Shift_Ins	INS							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.L711fs	ENST00000393931.3	37	c.2132_2131	CCDS11407.1	17																																																																																			-	NULL		0.619	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	protein_coding	OTTHUMT00000257406.1	-				39912103	-1	no_errors	ENST00000310706	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:0.999	GGGGCACATCGCT	GGGGCACATCGCT	39912103	-	GGGGCACATCGCT	39912102	7	5	67	1	0	1	1	0	0	0	0	0	7974	72	3	0	109	0	JUP	17	39912102	Frame_Shift_Ins	INS	-	TCGA-DX-A6B8-01A-11D-A307-09	32332632	39912102	41283108	59	3675											
STRADA	92335	genome.wustl.edu	37	chr17	61787902	61787903	+	In_Frame_Ins	INS	-	-	GCAGGATGTAAGCAATCGCCA													gagggccttcagcaccccctINSgcaggatgtaagcaatcgcc							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr17:61787902_61787903insGCAGGATGTAAGCAATCGCCA	ENST00000336174.6	-	8	641_642	c.529_530insTGGCGATTGCTTACATCCTGC	c.(529-531)cag>cTGGCGATTGCTTACATCCTGCag	p.176_177insLAIAYIL	RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000447001.3_In_Frame_Ins_p.132_133insLAIAYIL|STRADA_ENST00000375840.4_In_Frame_Ins_p.118_119insLAIAYIL|STRADA_ENST00000245865.5_In_Frame_Ins_p.118_119insLAIAYIL|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000579340.1_In_Frame_Ins_p.118_119insLAIAYIL|STRADA_ENST00000582137.1_In_Frame_Ins_p.147_148insLAIAYIL|STRADA_ENST00000392950.4_In_Frame_Ins_p.139_140insLAIAYIL	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CAGCACCCCCTGCAGGATGTAA	0.515																																																	0								ENSG00000266173																																			STRADA	SO:0001652	inframe_insertion	0				HGNC	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.509_529dupTGGCGATTGCTTACATCCTGC	17.37:g.61787902_61787903insGCAGGATGTAAGCAATCGCCA	ENSP00000336655:p.Leu170_Leu176dup	Somatic					0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	In_Frame_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.177in_frame_insLAIAYIL	ENST00000336174.6	37	c.530_529	CCDS32703.1	17																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.515	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	protein_coding	OTTHUMT00000443894.1	-				61787903	-1	no_errors	ENST00000336174	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	GCAGGATGTAAGCAATCGCCA	GCAGGATGTAAGCAATCGCCA	61787903	-	GCAGGATGTAAGCAATCGCCA	61787902	7	5	67	1	0	1	1	0	0	0	0	0	15331	1580	55	0	847	0	STRADA	17	61787902	In_Frame_Ins	INS	-	TCGA-DX-A6B8-01A-11D-A307-09	21875800	61787902	19407308	60	3676											
SERPINB8	5271	genome.wustl.edu	37	chr18	61654403	61654403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggtcaggaattcccGgtgcagcagaatggagccaa	14	9	1	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr18:61654403G>T	ENST00000397985.2	+	7	1272	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	SERPINB8_ENST00000542677.1_Missense_Mutation_p.R157L|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.R339L	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	339		Reactive bond. {ECO:0000250}.			negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGGAATTCCCGGTGCAGCAGA	0.527																																																	0								ENSG00000166401						77	75	76					18																	61654403		2203	4300	6503	SERPINB8	SO:0001583	missense	0			-	HGNC	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1016G>T	18.37:g.61654403G>T	ENSP00000381072:p.Arg339Leu	Somatic	0	90	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R339L	ENST00000397985.2	37	c.1016	CCDS11991.1	18	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251703	0.22880	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.82526	-1.62;-1.62;2.8	5.65	3.74	0.42951	Serpin domain (3);	0.205916	0.52532	D	0.000077	T	0.75576	0.3868	L	0.53780	1.695	0.09310	N	0.999996	B	0.17465	0.022	B	0.21708	0.036	T	0.56715	-0.7933	10	0.07644	T	0.81	.	10.988	0.47532	0.0749:0.0:0.7566:0.1685	.	339	P50452	SPB8_HUMAN	L	339;339;157	ENSP00000381072:R339L;ENSP00000331368:R339L;ENSP00000438328:R157L	ENSP00000331368:R339L	R	+	2	0	SERPINB8	59805383	0.779000	0.28652	0.033000	0.17914	0.382000	0.30200	2.750000	0.47500	1.633000	0.50488	0.655000	0.94253	CGG	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.527	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB8	protein_coding	OTTHUMT00000134014.1	G	NM_001031848	-		61654403	1	no_errors	ENST00000353706	ensembl	human	known	74_37	missense	SNP	0.017	T	T	61654403	G	T	61654403	3	4	67	1	0	0	0	0	1	0	0	0	14115	1116	39	3	1051	3	SERPINB8	18	61654403	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		61654403	16422845	61	3677											
PRTN3	5657	genome.wustl.edu	37	chr19	841040	841040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccccagccctgccctggCgtccgtgctgctggccttgc	12	20	0	0	rs551079189		TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr19:841040C>T	ENST00000234347.5	+	1	78	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PRTN3_ENST00000544537.2_5'Flank	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	11					collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CCTGCCCTGGCGTCCGTGCTG	0.657													C|||	1	0.000199681	0	0.0014	5008	,	,		16432	0		0	False		,,,				2504	0																0								ENSG00000196415						30	28	29					19																	841040		2202	4300	6502	PRTN3	SO:0001583	missense	0			-	HGNC		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.32C>T	19.37:g.841040C>T	ENSP00000234347:p.Ala11Val	Somatic	0	156	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A11V	ENST00000234347.5	37	c.32	CCDS32860.1	19	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389380	0.25118	.	.	ENSG00000196415	ENST00000234347	D	0.89123	-2.47	1.75	1.75	0.24633	.	.	.	.	.	T	0.69672	0.3137	N	0.19112	0.55	0.09310	N	1	D	0.54772	0.968	B	0.31869	0.137	T	0.66948	-0.5794	9	0.02654	T	1	.	6.9682	0.24635	0.0:1.0:0.0:0.0	.	11	P24158	PRTN3_HUMAN	V	11	ENSP00000234347:A11V	ENSP00000234347:A11V	A	+	2	0	PRTN3	792040	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	0.217000	0.17603	1.293000	0.44690	0.313000	0.20887	GCG	-	NULL		0.657	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTN3	protein_coding	OTTHUMT00000457888.2	C	NM_002777	-		841040	1	no_errors	ENST00000234347	ensembl	human	known	74_37	missense	SNP	0.002	T	T	841040	C	T	841040	3	4	67	1	0	0	0	0	1	0	0	0	12644	768	27	1	34	1	PRTN3	19	841040	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		841040	58287943	62	3678											
ANO8	57719	genome.wustl.edu	37	chr19	17443927	17443927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgggaggtgaagaagcGtagctcgctctccacattct	11	12	2	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr19:17443927G>A	ENST00000159087.4	-	4	630	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	158					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTGAAGAAGCGTAGCTCGCTC	0.627																																																	0								ENSG00000074855						40	45	43					19																	17443927		2203	4300	6503	ANO8	SO:0001583	missense	0			-	HGNC	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.472C>T	19.37:g.17443927G>A	ENSP00000159087:p.Arg158Cys	Somatic	0	65	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	7	74.07	A6NIJ0	Missense_Mutation	SNP							pfam_Anoctamin	p.R158C	ENST00000159087.4	37	c.472	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595919	0.46318	.	.	ENSG00000074855	ENST00000159087	T	0.61158	0.13	5.14	4.1	0.47936	.	0.355854	0.31335	N	0.007839	T	0.27205	0.0667	N	0.01705	-0.755	0.37129	D	0.901153	B	0.22983	0.078	B	0.23852	0.049	T	0.20405	-1.0276	10	0.45353	T	0.12	.	5.8157	0.18492	0.0971:0.0:0.7098:0.1931	.	158	Q9HCE9	ANO8_HUMAN	C	158	ENSP00000159087:R158C	ENSP00000159087:R158C	R	-	1	0	ANO8	17304927	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.745000	0.55119	2.396000	0.81511	0.555000	0.69702	CGC	-	NULL		0.627	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	protein_coding	OTTHUMT00000462943.1	G	XM_050644	-		17443927	-1	no_errors	ENST00000159087	ensembl	human	known	74_37	missense	SNP	0.988	A	A	17443927	G	A	17443927	3	1	67	1	0	0	0	0	1	0	0	0	703	1145	40	1	3286	1	ANO8	19	17443927	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	16602887	17443927	41685056	63	3679											
GRIN2D	2906	genome.wustl.edu	37	chr19	48945211	48945211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgcagttcctgggggAtggtgcggctgcacacaggg	18	9	0	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr19:48945211A>G	ENST00000263269.3	+	11	2526	c.2438A>G	c.(2437-2439)gAt>gGt	p.D813G		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	813					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCCTGGGGGATGGTGCGGCT	0.662																																																	0								ENSG00000105464						28	28	28					19																	48945211		2203	4300	6503	GRIN2D	SO:0001583	missense	0			-	HGNC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2438A>G	19.37:g.48945211A>G	ENSP00000263269:p.Asp813Gly	Somatic	0	74	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	25.71		Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D813G	ENST00000263269.3	37	c.2438	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	A	29.4	4.998941	0.93227	.	.	ENSG00000105464	ENST00000263269	T	0.35789	1.29	4.5	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.68317	2.08	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.61744	-0.7000	10	0.87932	D	0	.	13.2727	0.60170	1.0:0.0:0.0:0.0	.	813	O15399	NMDE4_HUMAN	G	813	ENSP00000263269:D813G	ENSP00000263269:D813G	D	+	2	0	GRIN2D	53637023	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.101000	0.94219	2.034000	0.60081	0.374000	0.22700	GAT	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.662	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	protein_coding	OTTHUMT00000466121.1	A		-		48945211	1	no_errors	ENST00000263269	ensembl	human	known	74_37	missense	SNP	1.000	G	G	48945211	A	G	48945211	3	3	67	1	0	0	0	0	1	0	0	0	6784	333	12	5	2476	5	GRIN2D	19	48945211	Missense_Mutation	SNP	A	TCGA-DX-A6B8-01A-11D-A307-09	31501284	48945211	10183772	64	3680											
NLRP5	126206	genome.wustl.edu	37	chr19	56539567	56539567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcctgctgggctgtccCgttcccctgggggtgaagca	16	12	0	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr19:56539567C>T	ENST00000390649.3	+	7	1968	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	656					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGGCTGTCCCGTTCCCCTGG	0.592																																																	0								ENSG00000171487						62	65	64					19																	56539567		1991	4153	6144	NLRP5	SO:0001819	synonymous_variant	0			-	HGNC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1968C>T	19.37:g.56539567C>T		Somatic	0	77	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A8MTY4|Q86W29	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P656	ENST00000390649.3	37	c.1968	CCDS12938.1	19																																																																																			-	NULL		0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	protein_coding	OTTHUMT00000313735.1	C	NM_153447	-		56539567	1	no_errors	ENST00000390649	ensembl	human	known	74_37	silent	SNP	0.000	T	T	56539567	C	T	56539567	2	4	67	1	0	0	0	0	0	0	0	1	10482	639	23	1		1	NLRP5	19	56539567	Silent	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	7594356	56539567	2589416	65	3681											
VPS16	64601	genome.wustl.edu	37	chr20	2842314	2842314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcctgggaaaggcGgctgatggtggtgggcgatg	23	5	0	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr20:2842314G>A	ENST00000380445.3	+	9	935	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.R288Q|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	288					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGGGAAAGGCGGCTGATGGTG	0.632																																																	0								ENSG00000215305						75	67	70					20																	2842314		2202	4300	6502	VPS16	SO:0001583	missense	0			-	HGNC	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.863G>A	20.37:g.2842314G>A	ENSP00000369810:p.Arg288Gln	Somatic	0	135	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	11	74.42	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP							pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.R288Q	ENST00000380445.3	37	c.863	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513223	0.44660	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.42900	0.98;0.96	5.62	4.66	0.58398	Vps16, N-terminal (1);	0.264721	0.37577	N	0.002033	T	0.32010	0.0815	L	0.29908	0.895	0.80722	D	1	D;B	0.63046	0.992;0.032	P;B	0.45753	0.492;0.008	T	0.04413	-1.0953	10	0.12766	T	0.61	-14.3365	11.8597	0.52459	0.0:0.0:0.8252:0.1748	.	288;288	Q9H269-2;Q9H269	.;VPS16_HUMAN	Q	288;288;170;170	ENSP00000369810:R288Q;ENSP00000369836:R288Q	ENSP00000369810:R288Q	R	+	2	0	VPS16	2790314	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	3.083000	0.50136	1.365000	0.46057	0.650000	0.86243	CGG	-	pfam_Vps16_N,pirsf_VPS16		0.632	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	protein_coding	OTTHUMT00000077658.2	G	NM_022575	-		2842314	1	no_errors	ENST00000380445	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2842314	G	A	2842314	3	1	67	1	0	0	0	0	1	0	0	0	17200	1116	39	1	897	1	VPS16	20	2842314	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		2842314	60183206	66	3682											
EDEM2	55741	genome.wustl.edu	37	chr20	33730242	33730242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgctgtcctggagcaCttcaaccactctttggaatt	8	13	2	0			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr20:33730242C>T	ENST00000374492.3	-	4	403	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	EDEM2_ENST00000540582.1_Missense_Mutation_p.V59M|EDEM2_ENST00000374491.3_Missense_Mutation_p.V63M|EDEM2_ENST00000541621.1_De_novo_Start_InFrame|EDEM2_ENST00000542871.1_De_novo_Start_OutOfFrame	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	100					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCTGGAGCACTTCAACCACT	0.428																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0								ENSG00000088298						83	75	78					20																	33730242		2203	4300	6503	EDEM2	SO:0001583	missense	0			-	HGNC	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.298G>A	20.37:g.33730242C>T	ENSP00000363616:p.Val100Met	Somatic	0	81	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	19	53.66	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.V100M	ENST00000374492.3	37	c.298	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642576	0.47153	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.44083	0.93;0.93;0.93	5.87	5.87	0.94306	.	0.194687	0.44902	D	0.000410	T	0.39655	0.1086	L	0.33137	0.985	0.53688	D	0.999972	B;B;B	0.27117	0.062;0.168;0.098	B;B;B	0.30943	0.012;0.074;0.122	T	0.13255	-1.0516	10	0.45353	T	0.12	-19.5919	19.8286	0.96626	0.0:1.0:0.0:0.0	.	59;63;100	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	M	63;100;59	ENSP00000363615:V63M;ENSP00000363616:V100M;ENSP00000441548:V59M	ENSP00000363615:V63M	V	-	1	0	EDEM2	33193903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.515000	0.53429	2.785000	0.95823	0.655000	0.94253	GTG	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.428	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	protein_coding	OTTHUMT00000078842.2	C	NM_018217	-		33730242	-1	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	SNP	0.998	T	T	33730242	C	T	33730242	3	4	67	1	0	0	0	0	1	0	0	0	4914	565	20	2	1470	2	EDEM2	20	33730242	Missense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	30887928	33730242	29295278	67	3683											
CECR2	27443	genome.wustl.edu	37	chr22	17983960	17983960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcaccgagagttttcGcgagaggacctcccttcgag	12	12	1	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr22:17983960G>A	ENST00000400585.2	+	7	731	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CECR2_ENST00000400573.5_Missense_Mutation_p.R239H|CECR2_ENST00000342247.5_Missense_Mutation_p.R219H|CECR2_ENST00000262608.8_Missense_Mutation_p.R220H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					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.R239H(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)		GAGAGTTTTCGCGAGAGGACC	0.562																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000099954						81	88	86					22																	17983960		1964	4145	6109	CECR2	SO:0001583	missense	0			-	HGNC	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.293G>A	22.37:g.17983960G>A	ENSP00000383428:p.Arg98His	Somatic	0	80	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	4	69.23	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R239H	ENST00000400585.2	37	c.716		22	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458572	0.84317	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.35	5.35	0.76521	.	0.000000	0.47852	D	0.000214	T	0.67468	0.2896	L	0.56769	1.78	0.40122	D	0.976617	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.966;0.987	T	0.69807	-0.5045	10	0.72032	D	0.01	-14.7554	19.4213	0.94723	0.0:0.0:1.0:0.0	.	261;98;261;239	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	H	219;98;239;220	ENSP00000341219:R219H;ENSP00000383428:R98H;ENSP00000383417:R239H;ENSP00000262608:R220H	ENSP00000262608:R220H	R	+	2	0	CECR2	16363960	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.337000	0.79256	2.664000	0.90586	0.655000	0.94253	CGC	-	NULL		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	G	NM_031413	-		17983960	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	17983960	G	A	17983960	3	1	67	1	0	0	0	0	1	0	0	0	3208	1087	38	1	680	1	CECR2	22	17983960	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09		17983960	33320606	68	3684											
EMID1	129080	genome.wustl.edu	37	chr22	29611585	29611585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcccgtgagtggaggtgCtgccctgggcactcaggagt	16	12	1	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr22:29611585C>T	ENST00000404820.3	+	3	412	c.285C>T	c.(283-285)tgC>tgT	p.C95C	EMID1_ENST00000404755.3_Silent_p.C95C|EMID1_ENST00000334018.6_Silent_p.C95C|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	95	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGTGGAGGTGCTGCCCTGGGC	0.627																																																	0								ENSG00000186998						100	92	95					22																	29611585		2203	4300	6503	EMID1	SO:0001819	synonymous_variant	0			-	HGNC	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.285C>T	22.37:g.29611585C>T		Somatic	0	97	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B0QYK6|Q6ICG1|Q86SS7	Silent	SNP							pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain	p.C95	ENST00000404820.3	37	c.285		22																																																																																			-	pfam_EMI_domain,pfscan_EMI_domain		0.627	EMID1-002	NOVEL	basic|appris_principal	protein_coding	EMID1	protein_coding	OTTHUMT00000321075.1	C	NM_133455	-		29611585	1	no_errors	ENST00000334018	ensembl	human	known	74_37	silent	SNP	1.000	T	T	29611585	C	T	29611585	2	4	67	1	0	0	0	0	0	0	0	1	5093	805	28	2		2	EMID1	22	29611585	Silent	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09	11627625	29611585	21692981	69	3685											
TMEM184B	25829	genome.wustl.edu	37	chr22	38643803	38643803	+	Frame_Shift_Del	DEL	C	C	-													catgtgatgagcagggccgtCcacacgaagaagccagagat							TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr22:38643803delC	ENST00000361906.3	-	2	373	c.165delG	c.(163-165)tggfs	p.W55fs	TMEM184B_ENST00000361684.4_Frame_Shift_Del_p.W55fs	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	55						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCAGGGCCGTCCACACGAAGA	0.607																																																	0								ENSG00000198792						61	54	57					22																	38643803		2203	4300	6503	TMEM184B	SO:0001589	frameshift_variant	0				HGNC	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.165delG	22.37:g.38643803delC	ENSP00000355210:p.Trp55fs	Somatic	0	77	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Frame_Shift_Del	DEL							pfam_Ost-alpha	p.W55fs	ENST00000361906.3	37	c.165	CCDS13969.2	22																																																																																			-	pfam_Ost-alpha		0.607	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	protein_coding	OTTHUMT00000075445.4	C	NM_012264			38643803	-1	no_errors	ENST00000361684	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	38643803	C	-	38643803	7	5	67	1	0	1	0	1	0	0	0	0	16112	856	30	0	1090	0	TMEM184B	22	38643803	Frame_Shift_Del	DEL	C	TCGA-DX-A6B8-01A-11D-A307-09	9032218	38643803	12660763	70	3686											
RANGAP1	5905	genome.wustl.edu	37	chr22	41642642	41642642	+	Frame_Shift_Del	DEL	G	G	-													cgtctgcagcagactgtggcGggcgaaggagcaggattcca					rs201423590		TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chr22:41642642delG	ENST00000455915.2	-	15	3198	c.1729delC	c.(1729-1731)cgcfs	p.R577fs	RANGAP1_ENST00000405486.1_Frame_Shift_Del_p.R577fs|RANGAP1_ENST00000356244.3_Frame_Shift_Del_p.R577fs|RANGAP1_ENST00000407260.4_Frame_Shift_Del_p.R522fs			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	577					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGACTGTGGCGGGCGAAGGAG	0.622																																																	0								ENSG00000100401																																			RANGAP1	SO:0001589	frameshift_variant	0				HGNC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1729delC	22.37:g.41642642delG	ENSP00000401470:p.Arg577fs	Somatic	0	133	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	Q96JJ2	Frame_Shift_Del	DEL							pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R577fs	ENST00000455915.2	37	c.1729	CCDS14012.1	22																																																																																			-	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C		0.622	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	protein_coding	OTTHUMT00000320606.1	G	NM_002883			41642642	-1	no_errors	ENST00000356244	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	41642642	G	-	41642642	7	5	67	1	0	1	0	1	0	0	0	0	13041	1116	39	0	38	0	RANGAP1	22	41642642	Frame_Shift_Del	DEL	G	TCGA-DX-A6B8-01A-11D-A307-09	2998839	41642642	9661924	71	3687											
ATRX	546	genome.wustl.edu	37	chrX	76937411	76937411	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctttcatggaatatttctCagtatcagatgatgaacaat	6	6	4	3			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chrX:76937411C>A	ENST00000373344.5	-	9	3551	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1075*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1113					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAATATTTCTCAGTATCAGAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						94	100	98					X																	76937411		2203	4293	6496	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3337G>T	X.37:g.76937411C>A	ENSP00000362441:p.Glu1113*	Somatic	0	16	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	0	100.00	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1113*	ENST00000373344.5	37	c.3337	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.988366	0.99499	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.51	4.64	0.57946	.	0.253331	0.31071	N	0.008305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-16.1903	10.7509	0.46209	0.0:0.9101:0.0:0.0899	.	.	.	.	X	1113;1075;1040	.	ENSP00000362441:E1113X	E	-	1	0	ATRX	76824067	1.000000	0.71417	0.846000	0.33378	0.977000	0.68977	5.292000	0.65673	1.084000	0.41184	0.513000	0.50165	GAG	-	NULL		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76937411	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.992	A	A	76937411	C	A	76937411	4	1	67	1	0	0	0	0	0	1	0	0	1208	835	29	3	4249	3	ATRX	23	76937411	Nonsense_Mutation	SNP	C	TCGA-DX-A6B8-01A-11D-A307-09		76937411	78333149	72	3688											
PCDH11Y	83259	genome.wustl.edu	37	chrY	4925426	4925426	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagagaactcggctataaacTctaaatatactctcccagcg	6	12	2	1			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chrY:4925426T>A	ENST00000333703.4	+	4	1042	c.529T>A	c.(529-531)Tct>Act	p.S177T	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S188T|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S188T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	188	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCTATAAACTCTAAATATAC	0.363																																																	0								ENSG00000099715						19	18	18					Y																	4925426		632	1930	2562	PCDH11Y	SO:0001583	missense	0			-	HGNC	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.529T>A	Y.37:g.4925426T>A	ENSP00000330552:p.Ser177Thr	Somatic	0	71	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	1	95.24	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S188T	ENST00000333703.4	37	c.562	CCDS14776.1	Y																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.363	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	protein_coding	OTTHUMT00000084979.2	T	NM_032973	-		4925426	1	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4925426	T	A	4925426	3	1	67	1	0	0	0	0	1	0	0	0	11511	1551	54	5	600	5	PCDH11Y	24	4925426	Missense_Mutation	SNP	T	TCGA-DX-A6B8-01A-11D-A307-09		4925426	54448140	73	3689											
USP9Y	8287	genome.wustl.edu	37	chrY	14902412	14902412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattcctaatccctcatccGagtgcgtacttagaaatgag	8	11	1	2			TCGA-DX-A6B8-01A-11D-A307-09	TCGA-DX-A6B8-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f06f79b3-53f9-4c0a-935f-e721ebcada6b	b50283e5-96cd-4cf4-a35d-6a07340996aa	g.chrY:14902412G>A	ENST00000338981.3	+	25	4579	c.3634G>A	c.(3634-3636)Gag>Aag	p.E1212K	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1212					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCCTCATCCGAGTGCGTACT	0.388																																																	0								ENSG00000114374						81	76	77					Y																	14902412		608	1947	2555	USP9Y	SO:0001583	missense	0			-	HGNC	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.3634G>A	Y.37:g.14902412G>A	ENSP00000342812:p.Glu1212Lys	Somatic	0	98	0		0.73195998727305				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	O14601	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.E1212K	ENST00000338981.3	37	c.3634	CCDS14781.1	Y																																																																																			-	superfamily_ARM-type_fold		0.388	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	protein_coding	OTTHUMT00000088703.2	G	NM_004654	-		14902412	1	no_errors	ENST00000338981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14902412	G	A	14902412	3	1	67	1	0	0	0	0	1	0	0	0	17098	1059	37	1	3724	1	USP9Y	24	14902412	Missense_Mutation	SNP	G	TCGA-DX-A6B8-01A-11D-A307-09	9976986	14902412	44471154	74	3690											
ABCD3	5825	genome.wustl.edu	37	chr1	94948795	94948795	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactcagtcttccgaaaactGgtaagataacacacttgagg	8	10	2	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr1:94948795G>T	ENST00000370214.4	+	10	921	c.897G>T	c.(895-897)ctG>ctT	p.L299L	ABCD3_ENST00000454898.2_Splice_Site_p.L323L|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Splice_Site_p.L226L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	299	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCCGAAAACTGGTAAGATAAC	0.343																																																	0								ENSG00000117528						73	76	75					1																	94948795		2203	4300	6503	ABCD3	SO:0001630	splice_region_variant	0			-	HGNC	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.897+1G>T	1.37:g.94948795G>T		Somatic	0	83	0		0.552198751195319	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.30	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP							pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.L323	ENST00000370214.4	37	c.969	CCDS749.1	1																																																																																			-	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter		0.343	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	protein_coding	OTTHUMT00000029597.1	G	NM_002858	-	Silent	94948795	1	no_errors	ENST00000454898	ensembl	human	known	74_37	silent	SNP	1.000	T	T	94948795	G	T	94948795	5	4	68	1	0	0	0	0	0	0	1	0	62	1362	47	3	966	3	ABCD3	1	94948795	Splice_Site	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		94948795	154301826	1	3691											
CTTNBP2NL	55917	genome.wustl.edu	37	chr1	112991755	112991755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaacatgcaggagcgcatGctgtcccagctggctgctgc	13	12	0	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr1:112991755G>T	ENST00000271277.6	+	4	516	c.291G>T	c.(289-291)atG>atT	p.M97I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	97					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)		AGGAGCGCATGCTGTCCCAGC	0.458																																																	0								ENSG00000143079						59	57	58					1																	112991755		2203	4300	6503	CTTNBP2NL	SO:0001583	missense	0			-	HGNC	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.291G>T	1.37:g.112991755G>T	ENSP00000271277:p.Met97Ile	Somatic	0	35	0		0.552198751195319	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B3KMS5|Q96B40	Missense_Mutation	SNP							pfam_Cortactin-binding_p2_N	p.M97I	ENST00000271277.6	37	c.291	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.201860	0.94997	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.46063	0.88;0.88	5.65	5.65	0.86999	Cortactin-binding protein-2, N-terminal (1);	0.035822	0.85682	D	0.000000	T	0.54565	0.1866	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.43798	-0.9369	10	0.34782	T	0.22	-23.3098	19.3262	0.94262	0.0:0.0:1.0:0.0	.	97	Q9P2B4	CT2NL_HUMAN	I	97	ENSP00000271277:M97I;ENSP00000390976:M97I	ENSP00000271277:M97I	M	+	3	0	CTTNBP2NL	112793278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.677000	0.91161	0.561000	0.74099	ATG	-	pfam_Cortactin-binding_p2_N		0.458	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	protein_coding	OTTHUMT00000030686.1	G	NM_018704	-		112991755	1	no_errors	ENST00000271277	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112991755	G	T	112991755	3	4	68	1	0	0	0	0	1	0	0	0	4048	1319	46	3	297	3	CTTNBP2NL	1	112991755	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	18042960	112991755	136258866	2	3692											
DENND4B	9909	genome.wustl.edu	37	chr1	153914353	153914353	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccatgctcacgcttccaaGggtaggcggtgggggcctga	16	11	1	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr1:153914353G>T	ENST00000361217.4	-	6	1465	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	349	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACGCTTCCAAGGGTAGGCGGT	0.632																																																	0								ENSG00000198837						41	47	45					1																	153914353		2112	4218	6330	DENND4B	SO:0001819	synonymous_variant	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1047C>A	1.37:g.153914353G>T		Somatic	0	41	0		0.552198751195319	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5T4K0	Silent	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P349	ENST00000361217.4	37	c.1047	CCDS44228.1	1																																																																																			-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	G	XM_375806	-		153914353	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	silent	SNP	1.000	T	T	153914353	G	T	153914353	2	4	68	1	0	0	0	0	0	0	0	1	4436	987	35	3		3	DENND4B	1	153914353	Silent	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	40922598	153914353	95336268	3	3693											
SLC4A5	57835	genome.wustl.edu	37	chr2	74474299	74474299	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatgaagctgataagggtGgagaagccctcctcggtgaa	14	7	0	5			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr2:74474299G>T	ENST00000377634.4	-	19	2322	c.1923C>A	c.(1921-1923)tcC>tcA	p.S641S	SLC4A5_ENST00000423644.1_Silent_p.S641S|SLC4A5_ENST00000346834.4_Silent_p.S641S|SLC4A5_ENST00000357822.5_Silent_p.S641S|SLC4A5_ENST00000359484.4_Silent_p.S577S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.S641S|SLC4A5_ENST00000394019.2_Silent_p.S641S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Silent_p.S577S					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGATAAGGGTGGAGAAGCCCT	0.473																																																	0								ENSG00000188687						226	222	223					2																	74474299		2203	4300	6503	SLC4A5	SO:0001819	synonymous_variant	0			-	HGNC	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1923C>A	2.37:g.74474299G>T		Somatic	0	46	0		0.552198751195319	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.S641	ENST00000377634.4	37	c.1923	CCDS1936.1	2																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.473	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	G		-		74474299	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	silent	SNP	1.000	T	T	74474299	G	T	74474299	2	4	68	1	0	0	0	0	0	0	0	1	14665	1335	47	3		3	SLC4A5	2	74474299	Silent	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		74474299	168725074	4	3694											
CACNB4	785	genome.wustl.edu	37	chr2	152830203	152830203	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctccgagtcttcaattcCatgcaggtacaaattgtcat	7	11	3	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr2:152830203C>A	ENST00000539935.1	-	3	215				CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000397327.2_5'UTR|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.G9*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.G9*|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000475848.1_5'UTR	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTCAATTCCATGCAGGTAC	0.463																																																	0								ENSG00000182389						69	68	68					2																	152830203		1865	4113	5978	CACNB4	SO:0001627	intron_variant	0			-	HGNC	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.148-90319G>T	2.37:g.152830203C>A		Somatic	0	40	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Nonsense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.G9*	ENST00000539935.1	37	c.25	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.685638	0.98431	.	.	ENSG00000182389	ENST00000360283;ENST00000534999	.	.	.	5.78	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.8402	0.63435	0.0:0.9255:0.0:0.0745	.	.	.	.	X	9	.	ENSP00000353425:G9X	G	-	1	0	CACNB4	152538449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.633000	0.74286	1.464000	0.47987	0.313000	0.20887	GGA	-	prints_VDCC_L_b3su		0.463	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3	-		152830203	-1	no_errors	ENST00000360283	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	152830203	C	A	152830203	1	1	68	0	1	0	0	0	0	0	0	0	2557	603	21	3		3	CACNB4	2	152830203	Intron	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	78355904	152830203	90369170	5	3695											
DOCK10	55619	genome.wustl.edu	37	chr2	225668868	225668868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtctggcaggaaggattgGatcctttgagagttccattg	13	6	1	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr2:225668868G>T	ENST00000258390.7	-	39	4296	c.4229C>A	c.(4228-4230)tCc>tAc	p.S1410Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1404Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1410					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)		GGAAGGATTGGATCCTTTGAG	0.373																																																	0								ENSG00000135905						104	102	103					2																	225668868		1872	4102	5974	DOCK10	SO:0001583	missense	0			-	HGNC	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.4229C>A	2.37:g.225668868G>T	ENSP00000258390:p.Ser1410Tyr	Somatic	0	49	0		0.552198751195319	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1410Y	ENST00000258390.7	37	c.4229	CCDS46528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.91|19.91	3.914098|3.914098	0.72983|0.72983	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.02103	.|4.45;4.45	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.501136	.|0.22110	.|N	.|0.064487	T|T	0.08313|0.08313	0.0207|0.0207	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;P;B	.|0.65815	.|0.976;0.995;0.901;0.294	.|P;D;B;B	.|0.75484	.|0.556;0.986;0.312;0.054	T|T	0.31833|0.31833	-0.9929|-0.9929	5|10	.|0.56958	.|D	.|0.05	.|.	19.8009|19.8009	0.96506|0.96506	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1410;264;1404;72	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	T|Y	292|1404;1410	.|ENSP00000386694:S1404Y;ENSP00000258390:S1410Y	.|ENSP00000258390:S1410Y	P|S	-|-	1|2	0|0	DOCK10|DOCK10	225377112|225377112	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.986000|0.986000	0.74619|0.74619	9.361000|9.361000	0.97122|0.97122	2.680000|2.680000	0.91292|0.91292	0.585000|0.585000	0.79938|0.79938	CCA|TCC	-	superfamily_ARM-type_fold		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G		-		225668868	-1	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	SNP	1.000	T	T	225668868	G	T	225668868	3	4	68	1	0	0	0	0	1	0	0	0	4687	1174	41	3	2403	3	DOCK10	2	225668868	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	72838665	225668868	17530505	6	3696											
AGAP1	116987	genome.wustl.edu	37	chr2	236877199	236877199	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccctcccctcacgccaacaGaaagaagcaccgaaggaaga	8	16	1	3	rs3207205		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr2:236877199G>A	ENST00000304032.8	+	13	2157	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	AGAP1_ENST00000409538.1_Missense_Mutation_p.R738K|AGAP1_ENST00000428334.2_Missense_Mutation_p.R365K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R473K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	526	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACGCCAACAGAAAGAAGCAC	0.622																																																	0								ENSG00000157985						45	55	52					2																	236877199		2203	4300	6503	AGAP1	SO:0001583	missense	0			-	HGNC	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1577G>A	2.37:g.236877199G>A	ENSP00000307634:p.Arg526Lys	Somatic	0	66	0		0.552198751195319	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	58	33.71	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.R526K	ENST00000304032.8	37	c.1577	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388720	0.61956	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.75821	-0.32;-0.97;-0.97;0.74	5.09	5.09	0.68999	Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	N	0.25825	0.765	0.80722	D	1	D;B	0.56035	0.974;0.005	D;B	0.70487	0.969;0.021	T	0.68614	-0.5362	10	0.02654	T	1	.	18.5143	0.90930	0.0:0.0:1.0:0.0	rs3207205	473;526	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	K	526;473;738;365	ENSP00000307634:R526K;ENSP00000338378:R473K;ENSP00000386897:R738K;ENSP00000411824:R365K	ENSP00000307634:R526K	R	+	2	0	AGAP1	236541938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.744000	0.98853	2.359000	0.80004	0.650000	0.86243	AGA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.622	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	G	NM_014914	rs3207205		236877199	1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	SNP	1.000	A	A	236877199	G	A	236877199	3	1	68	1	0	0	0	0	1	0	0	0	366	942	33	2	1627	2	AGAP1	2	236877199	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	11208331	236877199	6322174	7	3697			1	47		2	2	25	G		3.333627e-05
AGAP1	116987	genome.wustl.edu	37	chr2	236877223	236877223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaccgaaggaagaaaaGcactagcaacttcaaagccg	10	10	1	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr2:236877223G>C	ENST00000304032.8	+	13	2181	c.1601G>C	c.(1600-1602)aGc>aCc	p.S534T	AGAP1_ENST00000409538.1_Missense_Mutation_p.S746T|AGAP1_ENST00000428334.2_Missense_Mutation_p.S373T|AGAP1_ENST00000336665.5_Missense_Mutation_p.S481T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	534	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGAAGAAAAGCACTAGCAAC	0.597																																																	0								ENSG00000157985						48	60	56					2																	236877223		2203	4300	6503	AGAP1	SO:0001583	missense	0			-	HGNC	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1601G>C	2.37:g.236877223G>C	ENSP00000307634:p.Ser534Thr	Somatic	0	55	0		0.552198751195319	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	50	34.21	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.S534T	ENST00000304032.8	37	c.1601	CCDS33408.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.631222|1.631222	0.28978|0.28978	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000448025;ENST00000418654|ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T|T;T;T;T	0.60171|0.78816	0.21;2.01|-0.63;-1.21;-1.21;0.43	5.09|5.09	4.21|4.21	0.49690|0.49690	.|Pleckstrin homology domain (3);	.|0.191754	.|0.53938	.|D	.|0.000055	T|T	0.78419|0.78419	0.4280|0.4280	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;P	.|0.40578	.|0.447;0.722	.|B;P	.|0.45913	.|0.125;0.497	T|T	0.77070|0.77070	-0.2724|-0.2724	7|10	0.34782|0.39692	T|T	0.22|0.17	.|.	13.5513|13.5513	0.61734|0.61734	0.0752:0.0:0.9248:0.0|0.0752:0.0:0.9248:0.0	.|.	.|481;534	.|Q9UPQ3-2;Q9UPQ3	.|.;AGAP1_HUMAN	N|T	167;61|534;481;746;373	ENSP00000403482:K167N;ENSP00000393838:K61N|ENSP00000307634:S534T;ENSP00000338378:S481T;ENSP00000386897:S746T;ENSP00000411824:S373T	ENSP00000393838:K61N|ENSP00000307634:S534T	K|S	+|+	3|2	2|0	AGAP1|AGAP1	236541962|236541962	1.000000|1.000000	0.71417|0.71417	0.910000|0.910000	0.35882|0.35882	0.336000|0.336000	0.28762|0.28762	9.751000|9.751000	0.98889|0.98889	1.140000|1.140000	0.42260|0.42260	-0.145000|-0.145000	0.13849|0.13849	AAG|AGC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	G	NM_014914	-		236877223	1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	SNP	1.000	C	C	236877223	G	C	236877223	3	2	68	1	0	0	0	0	1	0	0	0	366	971	34	4	1651	4	AGAP1	2	236877223	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	24	236877223	6322150	8	3698			1	47		2	2	25	G		3.333627e-05
CLCN2	1181	genome.wustl.edu	37	chr3	184069817	184069817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttgtgcaaagaggtcCgctccaccagctggaaggga	12	12	0	1	rs147728691		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr3:184069817C>A	ENST00000265593.4	-	22	2570	c.2399G>T	c.(2398-2400)cGg>cTg	p.R800L	CLCN2_ENST00000434054.2_Missense_Mutation_p.R756L|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R800L|CLCN2_ENST00000344937.7_Missense_Mutation_p.R783L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	800	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAAAGAGGTCCGCTCCACCAG	0.562																																																	0								ENSG00000114859						135	131	132					3																	184069817		2203	4300	6503	CLCN2	SO:0001583	missense	0			-	HGNC	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2399G>T	3.37:g.184069817C>A	ENSP00000265593:p.Arg800Leu	Somatic	0	28	0		0.552198751195319	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.R800L	ENST00000265593.4	37	c.2399	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	21.4	4.139919	0.77775	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-2.35	5.59	5.59	0.84812	Cystathionine beta-synthase, core (3);	0.055712	0.64402	D	0.000001	D	0.95095	0.8411	M	0.79926	2.475	0.80722	D	1	P;P;P;P	0.50369	0.934;0.869;0.932;0.934	P;B;P;P	0.48815	0.591;0.268;0.545;0.495	D	0.95443	0.8527	10	0.66056	D	0.02	-26.0779	18.3639	0.90384	0.0:1.0:0.0:0.0	.	756;800;783;800	E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	L	800;783;756;800	ENSP00000265593:R800L;ENSP00000345056:R783L;ENSP00000400425:R756L;ENSP00000391928:R800L	ENSP00000265593:R800L	R	-	2	0	CLCN2	185552511	0.025000	0.19082	1.000000	0.80357	0.997000	0.91878	1.934000	0.40163	2.640000	0.89533	0.462000	0.41574	CGG	-	pfam_CBS_dom		0.562	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	protein_coding	OTTHUMT00000345571.1	C		-		184069817	-1	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	SNP	1.000	A	A	184069817	C	A	184069817	3	1	68	1	0	0	0	0	1	0	0	0	3465	652	23	3	309	3	CLCN2	3	184069817	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		184069817	13952613	9	3699											
C4orf37	285555	genome.wustl.edu	37	chr4	98865141	98865141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagaaattcccacaccCtgtgaatgccaaaattcctg	5	13	2	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr4:98865141C>A	ENST00000295268.3	-	8	1040	c.951G>T	c.(949-951)caG>caT	p.Q317H		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	317																	TTCCCACACCCTGTGAATGCC	0.328																																																	0								ENSG00000163116						117	113	114					4																	98865141		2203	4300	6503	STPG2	SO:0001583	missense	0			-	HGNC	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.951G>T	4.37:g.98865141C>A	ENSP00000295268:p.Gln317His	Somatic	0	45	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Missense_Mutation	SNP							NULL	p.Q317H	ENST00000295268.3	37	c.951	CCDS3645.1	4	.	.	.	.	.	.	.	.	.	.	C	5.180	0.218713	0.09810	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.49432	0.78;2.65	4.0	3.1	0.35709	.	1.491800	0.04640	N	0.405231	T	0.50343	0.1610	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.36962	-0.9726	10	0.41790	T	0.15	-27.9385	6.558	0.22471	0.0:0.8584:0.0:0.1416	.	317	Q8N412	CD037_HUMAN	H	31;317	ENSP00000428346:Q31H;ENSP00000295268:Q317H	ENSP00000295268:Q317H	Q	-	3	2	C4orf37	99084164	0.326000	0.24669	0.043000	0.18650	0.032000	0.12392	1.364000	0.34171	1.188000	0.43014	0.558000	0.71614	CAG	-	NULL		0.328	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	protein_coding	OTTHUMT00000253642.1	C	NM_174952	-		98865141	-1	no_errors	ENST00000295268	ensembl	human	known	74_37	missense	SNP	0.055	A	A	98865141	C	A	98865141	3	1	68	1	0	0	0	0	1	0	0	0	2269	680	24	3	444	3	C4orf37	4	98865141	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		98865141	92289135	10	3700											
NFKB1	4790	genome.wustl.edu	37	chr4	103531766	103531766	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggagaactttgagcctctCtatgacctggatgactcttg	11	9	2	4			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr4:103531766C>A	ENST00000505458.1	+	20	2536	c.2259C>A	c.(2257-2259)ctC>ctA	p.L753L	NFKB1_ENST00000394820.4_Silent_p.L753L|NFKB1_ENST00000226574.4_Silent_p.L754L|NFKB1_ENST00000600343.1_Silent_p.L573L			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	753	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TTGAGCCTCTCTATGACCTGG	0.517																																																	0								ENSG00000109320						136	132	133					4																	103531766		2203	4300	6503	NFKB1	SO:0001819	synonymous_variant	0			-	HGNC	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2259C>A	4.37:g.103531766C>A		Somatic	0	34	0		0.552198751195319	104	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP							pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.L754	ENST00000505458.1	37	c.2262	CCDS54783.1	4																																																																																			-	superfamily_Ankyrin_rpt-contain_dom		0.517	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	protein_coding	OTTHUMT00000363411.1	C		-		103531766	1	no_errors	ENST00000226574	ensembl	human	known	74_37	silent	SNP	0.944	A	A	103531766	C	A	103531766	2	1	68	1	0	0	0	0	0	0	0	1	10377	900	32	3		3	NFKB1	4	103531766	Silent	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	4666625	103531766	87622510	11	3701											
FYB	2533	genome.wustl.edu	37	chr5	39153561	39153561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcttactttaggtcaaaCggaggtttaatgtttctggg	11	5	2	0	rs115158663		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:39153561C>T	ENST00000351578.6	-	3	1471	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P	FYB_ENST00000512982.1_Silent_p.P427P|FYB_ENST00000505428.1_Silent_p.P427P|FYB_ENST00000515010.1_Silent_p.P427P|FYB_ENST00000540520.1_Silent_p.P437P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	427	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTAGGTCAAACGGAGGTTTAA	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		18538	0		0	False		,,,				2504	0																0								ENSG00000082074	C	,	3,3995		0,3,1996	295	293	293		1281,1281	-2.4	1	5	dbSNP_132	293	0,8320		0,0,4160	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,3,6156	TT,TC,CC		0.0,0.075,0.0244	,	427/830,427/784	39153561	3,12315	1999	4160	6159	FYB	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1281G>A	5.37:g.39153561C>T		Somatic	0	81	0		0.552198751195319	17	22.73	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	54	39.33	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP							pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.P437	ENST00000351578.6	37	c.1311	CCDS47200.1	5																																																																																			-	NULL		0.483	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	protein_coding	OTTHUMT00000367098.1	C	NM_001465	rs115158663		39153561	-1	no_errors	ENST00000540520	ensembl	human	known	74_37	silent	SNP	0.790	T	T	39153561	C	T	39153561	2	4	68	1	0	0	0	0	0	0	0	1	6126	523	19	1		1	FYB	5	39153561	Silent	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		39153561	141761699	12	3702											
RASGRF2	5924	genome.wustl.edu	37	chr5	80375986	80375986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttcatcaaggactaaagGcaaggatagcaaactggccc	9	9	2	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:80375986G>T	ENST00000265080.4	+	6	1001	c.934G>T	c.(934-936)Gca>Tca	p.A312S	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	312	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGACTAAAGGCAAGGATAGC	0.294																																																	0								ENSG00000113319						90	99	96					5																	80375986		2203	4300	6503	RASGRF2	SO:0001583	missense	0			-	HGNC	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.934G>T	5.37:g.80375986G>T	ENSP00000265080:p.Ala312Ser	Somatic	0	59	0		0.552198751195319	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B9EG89|Q9UK56	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A312S	ENST00000265080.4	37	c.934	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956613	0.73902	.	.	ENSG00000113319	ENST00000265080	T	0.62941	-0.01	5.74	5.74	0.90152	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	N	0.13235	0.315	0.80722	D	1	P;P	0.44946	0.846;0.844	P;P	0.52646	0.68;0.705	T	0.50065	-0.8871	10	0.09338	T	0.73	.	19.919	0.97077	0.0:0.0:1.0:0.0	.	312;312	D6RAS9;O14827	.;RGRF2_HUMAN	S	312	ENSP00000265080:A312S	ENSP00000265080:A312S	A	+	1	0	RASGRF2	80411742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.751000	0.98889	2.712000	0.92718	0.561000	0.74099	GCA	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.294	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	protein_coding	OTTHUMT00000239215.2	G	NM_006909	-		80375986	1	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80375986	G	T	80375986	3	4	68	1	0	0	0	0	1	0	0	0	13081	1203	42	3	956	3	RASGRF2	5	80375986	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	41222425	80375986	100539274	13	3703											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482187	140482187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaatggcgagcctccgCgctcggccaccgccacgctg	13	17	0	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:140482187C>T	ENST00000231130.2	+	1	1954	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	652	Cadherin 6. {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)			CGAGCCTCCGCGCTCGGCCAC	0.711																																																	0								ENSG00000113205						20	24	23					5																	140482187		2031	3972	6003	PCDHB3	SO:0001583	missense	0			-	HGNC	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.1954C>T	5.37:g.140482187C>T	ENSP00000231130:p.Arg652Cys	Somatic	0	65	0		0.552198751195319	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51	B2R8P2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R652C	ENST00000231130.2	37	c.1954	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168849	0.21621	.	.	ENSG00000113205	ENST00000231130	T	0.55234	0.53	4.38	3.47	0.39725	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56292	0.1975	M	0.78801	2.425	0.44432	D	0.997357	B	0.22800	0.075	B	0.27715	0.082	T	0.59423	-0.7457	9	0.66056	D	0.02	.	13.5398	0.61668	0.1686:0.8314:0.0:0.0	.	652	Q9Y5E6	PCDB3_HUMAN	C	652	ENSP00000231130:R652C	ENSP00000231130:R652C	R	+	1	0	PCDHB3	140462371	0.003000	0.15002	0.227000	0.23927	0.089000	0.18198	2.015000	0.40961	0.875000	0.35847	0.556000	0.70494	CGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	C	NM_018937	-		140482187	1	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	SNP	0.752	T	T	140482187	C	T	140482187	3	4	68	1	0	0	0	0	1	0	0	0	11545	768	27	1	1956	1	PCDHB3	5	140482187	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	60106201	140482187	40433073	14	3704											
PCDH12	51294	genome.wustl.edu	37	chr5	141334716	141334716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaggctggtggcctctGtggggcttcctcactgccct	15	12	2	1	rs142096693		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr5:141334716G>A	ENST00000231484.3	-	1	3911	c.2701C>T	c.(2701-2703)Cag>Tag	p.Q901*	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	901					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCTCTGTGGGGCTTCC	0.647																																																	0								ENSG00000113555						32	37	36					5																	141334716		2203	4300	6503	PCDH12	SO:0001587	stop_gained	0			-	HGNC	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2701C>T	5.37:g.141334716G>A	ENSP00000231484:p.Gln901*	Somatic	0	59	0		0.552198751195319	85	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	53	39.08	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q901*	ENST00000231484.3	37	c.2701	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.843345	0.99700	.	.	ENSG00000113555	ENST00000231484	.	.	.	4.9	0.888	0.19206	.	1.379100	0.04361	N	0.357472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.1948	0.31389	0.0883:0.4667:0.445:0.0	.	.	.	.	X	901	.	ENSP00000231484:Q901X	Q	-	1	0	PCDH12	141314900	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.350000	0.20079	0.047000	0.15862	0.655000	0.94253	CAG	-	NULL		0.647	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	protein_coding	OTTHUMT00000251858.1	G	NM_016580	-		141334716	-1	no_errors	ENST00000231484	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	141334716	G	A	141334716	4	1	68	1	0	0	0	0	0	1	0	0	11512	1386	48	2	869	2	PCDH12	5	141334716	Nonsense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	852529	141334716	39580544	15	3705											
CAPN11	11131	genome.wustl.edu	37	chr6	44137083	44137083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctcaaggccaagggcGtgggccagcacgacaacgcc	15	15	1	0	rs555946152		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr6:44137083G>A	ENST00000398776.1	+	3	192	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	CAPN11_ENST00000542245.1_Missense_Mutation_p.V52M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	52					proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCAAGGGCGTGGGCCAGCA	0.507													G|||	1	0.000199681	0	0	5008	,	,		18377	0.001		0	False		,,,				2504	0																0								ENSG00000137225						40	42	41					6																	44137083		1930	4140	6070	CAPN11	SO:0001583	missense	0			-	HGNC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.154G>A	6.37:g.44137083G>A	ENSP00000381758:p.Val52Met	Somatic	0	46	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.V52M	ENST00000398776.1	37	c.154	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	G	6.331	0.429249	0.11987	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;T	0.97505	-4.41;-4.41;0.81	4.1	-4.32	0.03688	.	1.343570	0.05096	N	0.486237	D	0.84183	0.5416	N	0.19112	0.55	0.09310	N	0.999996	B	0.30709	0.291	B	0.13407	0.009	T	0.81611	-0.0854	10	0.52906	T	0.07	.	7.0583	0.25111	0.1302:0.4717:0.3146:0.0835	.	52	Q9UMQ6	CAN11_HUMAN	M	52;52;82	ENSP00000381758:V52M;ENSP00000441078:V52M;ENSP00000432420:V82M	ENSP00000381758:V52M	V	+	1	0	CAPN11	44245061	0.000000	0.05858	0.311000	0.25182	0.025000	0.11179	-2.444000	0.01012	-0.993000	0.03467	0.650000	0.86243	GTG	-	NULL		0.507	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	protein_coding	OTTHUMT00000040714.3	G		-		44137083	1	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	SNP	0.252	A	A	44137083	G	A	44137083	3	1	68	1	0	0	0	0	1	0	0	0	2626	1145	40	1	164	1	CAPN11	6	44137083	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		44137083	126977984	16	3706											
SENP6	26054	genome.wustl.edu	37	chr6	76376441	76376443	+	In_Frame_Del	DEL	TGA	TGA	-													cttttagtcattttgtccagTgatgatgatgatgacaacga							TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr6:76376441_76376443delTGA	ENST00000447266.2	+	10	1486_1488	c.1008_1010delTGA	c.(1006-1011)agtgat>agt	p.D341del	SENP6_ENST00000541192.1_5'Flank|SENP6_ENST00000370010.2_In_Frame_Del_p.D334del|SENP6_ENST00000327284.8_In_Frame_Del_p.D334del|SENP6_ENST00000370014.3_In_Frame_Del_p.D341del	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	341					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.D337N(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTTGTCCAGTGATGATGATGAT	0.305																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000112701																																			SENP6	SO:0001651	inframe_deletion	0				HGNC		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1008_1010delTGA	6.37:g.76376450_76376452delTGA	ENSP00000402527:p.Asp341del	Somatic	0	27	0		0.552198751195319	40	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	In_Frame_Del	DEL							pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D340in_frame_del	ENST00000447266.2	37	c.1008_1010	CCDS47454.1	6																																																																																			-	NULL		0.305	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	protein_coding	OTTHUMT00000041272.2	TGA	NM_015571			76376443	1	no_errors	ENST00000370014	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	76376443	TGA	-	76376441	7	5	68	1	0	1	0	1	0	0	0	0	14058	1693	59	0	1046	0	SENP6	6	76376441	In_Frame_Del	DEL	TGA	TCGA-DX-A6B9-01A-12D-A32I-09	32239358	76376441	94738626	17	3707											
ROS1	6098	genome.wustl.edu	37	chr6	117709109	117709109	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgacttcaggagggtcttgGgtggatactttcacctcata	12	8	4	1	rs140323539		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr6:117709109G>T	ENST00000368508.3	-	13	2046	c.1848C>A	c.(1846-1848)acC>acA	p.T616T	ROS1_ENST00000368507.3_Silent_p.T611T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	616	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGGGTCTTGGGTGGATACTT	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0								ENSG00000047936						147	146	146					6																	117709109		2203	4300	6503	ROS1	SO:0001819	synonymous_variant	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1848C>A	6.37:g.117709109G>T		Somatic	0	55	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q15368|Q5TDB5	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T616	ENST00000368508.3	37	c.1848	CCDS5116.1	6																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G		-		117709109	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	silent	SNP	0.018	T	T	117709109	G	T	117709109	2	4	68	1	0	0	0	0	0	0	0	1	13539	1219	43	3		3	ROS1	6	117709109	Silent	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	41332668	117709109	53405958	18	3708											
SAMD3	154075	genome.wustl.edu	37	chr6	130505678	130505678	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttctgctctgctaacatGcatttgacatcatagggaaa	7	10	3	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr6:130505678G>T	ENST00000368134.2	-	8	1082	c.474C>A	c.(472-474)tgC>tgA	p.C158*	SAMD3_ENST00000439090.2_Nonsense_Mutation_p.C158*|SAMD3_ENST00000437477.2_Nonsense_Mutation_p.C158*|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Nonsense_Mutation_p.C158*|SAMD3_ENST00000457563.2_Nonsense_Mutation_p.C182*|SAMD3_ENST00000532763.1_Nonsense_Mutation_p.C156*	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	158										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTGCTAACATGCATTTGACAT	0.428																																																	0								ENSG00000164483						130	114	119					6																	130505678		2203	4300	6503	SAMD3	SO:0001587	stop_gained	0			-	HGNC	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.474C>A	6.37:g.130505678G>T	ENSP00000357116:p.Cys158*	Somatic	0	34	0		0.552198751195319	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Nonsense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.C158*	ENST00000368134.2	37	c.474	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740079	0.89573	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	.	.	.	5.67	4.8	0.61643	.	0.222293	0.40908	D	0.000987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9399	0.41574	0.0742:0.138:0.7878:0.0	.	.	.	.	X	158;182;158;158;156;158;157;158;155	.	ENSP00000324874:C158X	C	-	3	2	SAMD3	130547371	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	1.701000	0.37825	1.392000	0.46585	0.655000	0.94253	TGC	-	NULL		0.428	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	protein_coding	OTTHUMT00000042197.3	G	NM_152552	-		130505678	-1	no_errors	ENST00000368134	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	130505678	G	T	130505678	4	4	68	1	0	0	0	0	0	1	0	0	13828	1311	46	3	1132	3	SAMD3	6	130505678	Nonsense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	12796569	130505678	40609389	19	3709											
GATA4	2626	genome.wustl.edu	37	chr8	11615950	11615950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggaacagcctggtctTggccgacagtcacggggaca	13	12	3	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr8:11615950T>C	ENST00000335135.4	+	7	1853	c.1295T>C	c.(1294-1296)tTg>tCg	p.L432S	GATA4_ENST00000532059.1_Missense_Mutation_p.L433S|GATA4_ENST00000528712.1_Missense_Mutation_p.L226S|C8orf49_ENST00000525043.2_5'Flank	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	432					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AGCCTGGTCTTGGCCGACAGT	0.577																																																	0								ENSG00000136574						117	96	103					8																	11615950		2203	4300	6503	GATA4	SO:0001583	missense	0			-	HGNC	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1295T>C	8.37:g.11615950T>C	ENSP00000334458:p.Leu432Ser	Somatic	0	40	0		0.552198751195319	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP							pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA	p.L432S	ENST00000335135.4	37	c.1295	CCDS5983.1	8	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207690	0.79240	.	.	ENSG00000136574	ENST00000528712;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D	0.99282	-5.68;-5.34;-5.35	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000100	D	0.99302	0.9756	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.99056	1.0829	10	0.87932	D	0	-19.2496	14.3663	0.66807	0.0:0.0:0.0:1.0	.	433;432	B7ZKZ4;P43694	.;GATA4_HUMAN	S	226;432;431;433	ENSP00000435043:L226S;ENSP00000334458:L432S;ENSP00000435712:L433S	ENSP00000259090:L431S	L	+	2	0	GATA4	11653359	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.803000	0.75180	2.175000	0.68902	0.460000	0.39030	TTG	-	pirsf_TF_GATA_4/5/6		0.577	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA4	protein_coding	OTTHUMT00000207587.2	T	NM_002052	-		11615950	1	no_errors	ENST00000335135	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11615950	T	C	11615950	3	2	68	1	0	0	0	0	1	0	0	0	6258	1821	63	5	1317	5	GATA4	8	11615950	Missense_Mutation	SNP	T	TCGA-DX-A6B9-01A-12D-A32I-09		11615950	134748072	20	3710											
NFIL3	4783	genome.wustl.edu	37	chr9	94171898	94171898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaagagaagaatgtacCatacttggggcactatgctt	12	6	0	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr9:94171898C>A	ENST00000297689.3	-	2	1513	c.1119G>T	c.(1117-1119)atG>atT	p.M373I		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	373					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAGAATGTACCATACTTGGGG	0.403																																					Esophageal Squamous(152;732 1832 10053 26981 51762)												0								ENSG00000165030						170	164	166					9																	94171898		2203	4300	6503	NFIL3	SO:0001583	missense	0			-	HGNC	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1119G>T	9.37:g.94171898C>A	ENSP00000297689:p.Met373Ile	Somatic	0	31	0		0.552198751195319	70	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP							pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.M373I	ENST00000297689.3	37	c.1119	CCDS6690.1	9	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741921	0.30865	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	4.97	0.65823	Vertebrate interleukin-3 regulated transcription factor (1);	1.492290	0.03788	N	0.262447	T	0.53530	0.1802	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.50491	-0.8822	9	0.52906	T	0.07	-7.6348	18.4124	0.90557	0.0:1.0:0.0:0.0	.	373	Q16649	NFIL3_HUMAN	I	373	.	ENSP00000297689:M373I	M	-	3	0	NFIL3	93211719	0.861000	0.29849	0.509000	0.27700	0.987000	0.75469	2.350000	0.44063	2.594000	0.87642	0.561000	0.74099	ATG	-	pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4		0.403	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	protein_coding	OTTHUMT00000053038.2	C	NM_005384	-		94171898	-1	no_errors	ENST00000297689	ensembl	human	known	74_37	missense	SNP	0.119	A	A	94171898	C	A	94171898	3	1	68	1	0	0	0	0	1	0	0	0	10375	594	21	3	273	3	NFIL3	9	94171898	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		94171898	47041533	21	3711											
SET	6418	genome.wustl.edu	37	chr9	131456028	131456028	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accattctgatgcaggtgctGatgagttaggagaggtcatc	13	7	2	4			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr9:131456028G>T	ENST00000372692.4	+	6	884	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	SET_ENST00000322030.8_Missense_Mutation_p.D202Y|SET_ENST00000409104.3_Missense_Mutation_p.D193Y|SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.D191Y	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	215	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TGCAGGTGCTGATGAGTTAGG	0.438			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0								ENSG00000119335						76	75	75					9																	131456028		2203	4299	6502	SET	SO:0001583	missense	0			-	HGNC	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.643G>T	9.37:g.131456028G>T	ENSP00000361777:p.Asp215Tyr	Somatic	0	40	0		0.552198751195319	447	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP							pfam_NAP_family	p.D215Y	ENST00000372692.4	37	c.643	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472054	0.84533	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.24538	1.85;2.96;1.85;2.96;2.96	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.83275	0.985;0.961;0.996	T	0.49244	-0.8960	10	0.87932	D	0	.	18.1692	0.89739	0.0:0.0:1.0:0.0	.	191;202;215	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	Y	215;193;202;191;190	ENSP00000361777:D215Y;ENSP00000387321:D193Y;ENSP00000318012:D202Y;ENSP00000361773:D191Y;ENSP00000361771:D190Y	ENSP00000318012:D202Y	D	+	1	0	SET	130495849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.849000	0.92178	2.538000	0.85594	0.555000	0.69702	GAT	-	pfam_NAP_family		0.438	SET-001	KNOWN	basic|CCDS	protein_coding	SET	protein_coding	OTTHUMT00000054476.2	G	NM_001122821	-		131456028	1	no_errors	ENST00000372692	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131456028	G	T	131456028	3	4	68	1	0	0	0	0	1	0	0	0	14136	1290	45	3	742	3	SET	9	131456028	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	37284130	131456028	9757403	22	3712											
MAN1B1	11253	genome.wustl.edu	37	chr9	140002840	140002840	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccctggctgctgcacagGtcccctcgggtggctattct	13	14	1	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr9:140002840G>T	ENST00000371589.4	+	13	1970	c.1897G>T	c.(1897-1899)Gtc>Ttc	p.V633F	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Splice_Site_p.V336F	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	633					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGCTGCACAGGTCCCCTCGGG	0.627																																																	0								ENSG00000177239						76	73	74					9																	140002840		2203	4300	6503	MAN1B1	SO:0001630	splice_region_variant	0			-	HGNC	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1897-1G>T	9.37:g.140002840G>T		Somatic	0	25	0		0.552198751195319	136	29.9	58	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.V633F	ENST00000371589.4	37	c.1897	CCDS7029.1	9	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923503	0.73213	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	T;T	0.74526	-0.85;-0.85	5.44	5.44	0.79542	.	.	.	.	.	D	0.92080	0.7490	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	D	0.94988	0.8132	8	.	.	.	.	18.2271	0.89921	0.0:0.0:1.0:0.0	.	306;633	B3KXZ1;Q9UKM7	.;MA1B1_HUMAN	F	633;336	ENSP00000360645:V633F;ENSP00000447256:V336F	.	V	+	1	0	MAN1B1	139122661	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	9.147000	0.94646	2.561000	0.86390	0.561000	0.74099	GTC	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.627	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	protein_coding	OTTHUMT00000055294.2	G	NM_016219	-	Missense_Mutation	140002840	1	no_errors	ENST00000371589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140002840	G	T	140002840	5	4	68	1	0	0	0	0	0	0	1	0	9214	1275	44	3	1947	3	MAN1B1	9	140002840	Splice_Site	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	8546812	140002840	1210591	23	3713											
DNAJC1	64215	genome.wustl.edu	37	chr10	22045671	22045671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccagcaacttgtacctaGcgatacagtcttcctgtagg	8	12	1	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr10:22045671G>T	ENST00000376980.3	-	12	1900	c.1610C>A	c.(1609-1611)gCt>gAt	p.A537D	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	537	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTTGTACCTAGCGATACAGTC	0.423																																																	0								ENSG00000136770						126	117	120					10																	22045671		2203	4300	6503	DNAJC1	SO:0001583	missense	0			-	HGNC	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1610C>A	10.37:g.22045671G>T	ENSP00000366179:p.Ala537Asp	Somatic	0	28	0		0.552198751195319	103	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP							pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A537D	ENST00000376980.3	37	c.1610	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966404	0.74131	.	.	ENSG00000136770	ENST00000376980	T	0.39592	1.07	5.44	5.44	0.79542	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.462170	0.24933	N	0.034460	T	0.47097	0.1427	N	0.25992	0.78	0.80722	D	1	D;D	0.61080	0.989;0.976	P;P	0.61003	0.882;0.812	T	0.21008	-1.0258	10	0.27785	T	0.31	-1.8284	15.1369	0.72576	0.0:0.141:0.859:0.0	.	258;537	Q96NY3;Q96KC8	.;DNJC1_HUMAN	D	537	ENSP00000366179:A537D	ENSP00000366179:A537D	A	-	2	0	DNAJC1	22085677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.723000	0.54955	2.712000	0.92718	0.561000	0.74099	GCT	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.423	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	protein_coding	OTTHUMT00000047149.1	G	NM_022365	-		22045671	-1	no_errors	ENST00000376980	ensembl	human	known	74_37	missense	SNP	0.996	T	T	22045671	G	T	22045671	3	4	68	1	0	0	0	0	1	0	0	0	4630	971	34	3	58	3	DNAJC1	10	22045671	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		22045671	113489076	24	3714											
HKDC1	80201	genome.wustl.edu	37	chr10	70992535	70992535	+	Frame_Shift_Del	DEL	T	T	-													aatagaaaatggggagttccTttccctggatctcggagggt							TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr10:70992535delT	ENST00000354624.5	+	3	375	c.242delT	c.(241-243)cttfs	p.L81fs	HKDC1_ENST00000395086.2_Frame_Shift_Del_p.L81fs|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	81	Hexokinase type-1 1.				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)			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						GGGGAGTTCCTTTCCCTGGAT	0.468																																																	0								ENSG00000156510						98	98	98					10																	70992535		2203	4300	6503	HKDC1	SO:0001589	frameshift_variant	0				HGNC		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.242delT	10.37:g.70992535delT	ENSP00000346643:p.Leu81fs	Somatic	0	35	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Frame_Shift_Del	DEL							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S82fs	ENST00000354624.5	37	c.242	CCDS7288.1	10																																																																																			-	pfam_Hexokinase_N		0.468	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	protein_coding	OTTHUMT00000048389.1	T	NM_025130			70992535	1	no_errors	ENST00000354624	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70992535	T	-	70992535	7	5	68	1	0	1	0	1	0	0	0	0	7195	1609	56	0	252	0	HKDC1	10	70992535	Frame_Shift_Del	DEL	T	TCGA-DX-A6B9-01A-12D-A32I-09	48946864	70992535	64542212	25	3715											
C10orf62	414157	genome.wustl.edu	37	chr10	99349965	99349965	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagaagacatctgggccctCagtgatccaagagatccacc	10	13	2	4			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr10:99349965C>A	ENST00000370640.3	+	1	516	c.311C>A	c.(310-312)tCa>tAa	p.S104*	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	104										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TCTGGGCCCTCAGTGATCCAA	0.597																																																	0								ENSG00000203942						57	58	57					10																	99349965		2203	4300	6503	C10orf62	SO:0001587	stop_gained	0			-	HGNC		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.311C>A	10.37:g.99349965C>A	ENSP00000359674:p.Ser104*	Somatic	0	32	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q49A70|Q8N3Y6	Nonsense_Mutation	SNP							NULL	p.S104*	ENST00000370640.3	37	c.311	CCDS31261.1	10	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717374	0.48622	.	.	ENSG00000203942	ENST00000370640	.	.	.	4.68	1.43	0.22495	.	0.804253	0.10045	U	0.722992	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0783	2.4055	0.04412	0.2101:0.5046:0.1784:0.1069	.	.	.	.	X	104	.	ENSP00000359674:S104X	S	+	2	0	C10orf62	99339955	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.126000	0.15769	0.549000	0.28973	0.643000	0.83706	TCA	-	NULL		0.597	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf62	protein_coding	OTTHUMT00000049723.1	C	NM_001009997	-		99349965	1	no_errors	ENST00000370640	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	99349965	C	A	99349965	4	1	68	1	0	0	0	0	0	1	0	0	1613	838	29	3	313	3	C10orf62	10	99349965	Nonsense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	28357430	99349965	36184782	26	3716											
CRTAC1	55118	genome.wustl.edu	37	chr10	99664503	99664503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagttgccatagacgatgtCcactttgccatcacggttga	9	12	1	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr10:99664503C>A	ENST00000370597.3	-	7	1274	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	CRTAC1_ENST00000298819.4_Missense_Mutation_p.D307Y|CRTAC1_ENST00000370591.2_Missense_Mutation_p.D307Y	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	307						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TAGACGATGTCCACTTTGCCA	0.627																																																	0								ENSG00000095713						122	118	119					10																	99664503		2203	4300	6503	CRTAC1	SO:0001583	missense	0			-	HGNC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.919G>T	10.37:g.99664503C>A	ENSP00000359629:p.Asp307Tyr	Somatic	0	36	0		0.552198751195319	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP							pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.D307Y	ENST00000370597.3	37	c.919	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752800	0.89753	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.88699	0.3214	10	0.87932	D	0	-36.5415	18.2232	0.89907	0.0:1.0:0.0:0.0	.	307;307;203	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	Y	203;307;307;299;307	ENSP00000408445:D203Y;ENSP00000359629:D307Y;ENSP00000298819:D307Y;ENSP00000310810:D299Y;ENSP00000359623:D307Y	ENSP00000298819:D307Y	D	-	1	0	CRTAC1	99654493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.709000	0.84645	2.303000	0.77524	0.561000	0.74099	GAC	-	pfam_FG-GAP		0.627	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	protein_coding	OTTHUMT00000049754.1	C	NM_018058	-		99664503	-1	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99664503	C	A	99664503	3	1	68	1	0	0	0	0	1	0	0	0	3898	855	30	3	1102	3	CRTAC1	10	99664503	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	314538	99664503	35870244	27	3717											
TREH	11181	genome.wustl.edu	37	chr11	118534048	118534048	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccctaggtgcttcacCtggagctatagacagtggca	11	11	2	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr11:118534048C>A	ENST00000529101.1	-	2	235	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	TREH_ENST00000264029.4_Splice_Site_p.E64*|TREH_ENST00000525958.1_Splice_Site_p.E64*|TREH_ENST00000397925.1_Splice_Site_p.E64*|TREH_ENST00000530256.1_Intron			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	64					carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	alpha,alpha-trehalase activity (GO:0004555)			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GGTGCTTCACCTGGAGCTATA	0.532																																																	0								ENSG00000118094						100	99	99					11																	118534048		2067	4192	6259	TREH	SO:0001630	splice_region_variant	0			-	HGNC	AB000824	CCDS73401.1, CCDS73402.1	11q23.3	2008-07-21				ENSG00000118094	3.2.1.28		12266	protein-coding gene	gene with protein product	"alpha,alpha-trehalase", "alpha,alpha-trehalose glucohydrolase"	275360				9427547	Standard	NM_007180		Approved	TRE, TREA, MGC129621	uc001pty.1	O43280		ENST00000529101.1:c.190+1G>T	11.37:g.118534048C>A		Somatic	0	58	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q32MB9|Q53FY8	Nonsense_Mutation	SNP							pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37	p.E64*	ENST00000529101.1	37	c.190		11	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169311	0.38315	.	.	ENSG00000118094	ENST00000529101;ENST00000264029;ENST00000525958;ENST00000397925	.	.	.	5.31	4.39	0.52855	.	0.313406	0.33309	N	0.005052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.6018	10.5699	0.45194	0.0:0.9092:0.0:0.0908	.	.	.	.	X	64	.	.	E	-	1	0	TREH	118039258	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	2.911000	0.48774	2.512000	0.84698	0.585000	0.79938	GAA	-	pfam_Glyco_hydro_37		0.532	TREH-001	KNOWN	basic|appris_candidate	protein_coding	TREH	protein_coding	OTTHUMT00000389639.1	C	NM_007180	-	Nonsense_Mutation	118534048	-1	no_errors	ENST00000264029	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	118534048	C	A	118534048	5	1	68	1	0	0	0	0	0	0	1	0	16476	695	24	3	1616	3	TREH	11	118534048	Splice_Site	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		118534048	16472468	28	3718											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46321265	46321265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattcatttgtttaagaTcagcatttacagatggttca	6	6	4	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr12:46321265T>C	ENST00000369367.3	-	11	2452	c.2219A>G	c.(2218-2220)gAt>gGt	p.D740G	SCAF11_ENST00000465950.1_Missense_Mutation_p.D425G|SCAF11_ENST00000549162.1_Missense_Mutation_p.D548G|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.D740G	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	740					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGTTTAAGATCAGCATTTAC	0.353																																																	0								ENSG00000139218						133	128	130					12																	46321265		2203	4300	6503	SCAF11	SO:0001583	missense	0			-	HGNC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2219A>G	12.37:g.46321265T>C	ENSP00000358374:p.Asp740Gly	Somatic	0	21	0		0.552198751195319	7	58.82	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP							smart_Znf_RING,pfscan_Znf_RING	p.D740G	ENST00000369367.3	37	c.2219	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195956	0.38806	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.49720	1.41;2.14;1.4;2.14;0.77	5.93	4.73	0.59995	.	0.259393	0.33382	N	0.004975	T	0.49762	0.1576	L	0.53249	1.67	0.28938	N	0.891168	D;P	0.56287	0.975;0.851	P;B	0.48815	0.591;0.321	T	0.54132	-0.8339	10	0.62326	D	0.03	-27.2192	11.6394	0.51224	0.0:0.0:0.1479:0.8521	.	548;740	F8VXG7;Q99590	.;SCAFB_HUMAN	G	425;740;548;740;680	ENSP00000449812:D425G;ENSP00000358374:D740G;ENSP00000448864:D548G;ENSP00000413036:D740G;ENSP00000446746:D680G	ENSP00000358374:D740G	D	-	2	0	SCAF11	44607532	0.912000	0.30974	0.897000	0.35233	0.504000	0.33889	1.236000	0.32683	2.281000	0.76405	0.533000	0.62120	GAT	-	NULL		0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	protein_coding	OTTHUMT00000313992.2	T	NM_004719	-		46321265	-1	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	SNP	0.744	C	C	46321265	T	C	46321265	3	2	68	1	0	0	0	0	1	0	0	0	14185	1435	50	5	2192	5	SFRS2IP	12	46321265	Missense_Mutation	SNP	T	TCGA-DX-A6B9-01A-12D-A32I-09		46321265	87530630	29	3719											
LRP1	4035	genome.wustl.edu	37	chr12	57561246	57561246	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctatcccacctgcttcccCctgactcagtttacctgcaa	5	18	1	1	rs149857225	byFrequency	TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr12:57561246C>A	ENST00000243077.3	+	19	3400	c.2934C>A	c.(2932-2934)ccC>ccA	p.P978P	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	978	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCTTCCCCCTGACTCAGT	0.517																																																	0								ENSG00000123384						198	165	177					12																	57561246		2203	4300	6503	LRP1	SO:0001819	synonymous_variant	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2934C>A	12.37:g.57561246C>A		Somatic	0	48	0		0.552198751195319	33	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P978	ENST00000243077.3	37	c.2934	CCDS8932.1	12																																																																																			-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.517	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	C	NM_002332	-		57561246	1	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	SNP	1.000	A	A	57561246	C	A	57561246	2	1	68	1	0	0	0	0	0	0	0	1	8953	610	22	3		3	LRP1	12	57561246	Silent	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	11239981	57561246	76290649	30	3720											
BTBD11	121551	genome.wustl.edu	37	chr12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctccccgctccaggcGtcccgtggactctgcacacg	9	20	2	0	rs201620480		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587																																																	0								ENSG00000151136	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25	24	24		1066,2455	5.2	1	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	BTBD11	SO:0001583	missense	0			-	HGNC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	12.37:g.108013765G>A	ENSP00000280758:p.Val819Ile	Somatic	0	20	0		0.552198751195319	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.V819I	ENST00000280758.5	37	c.2455	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	BTBD11	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC	-	NULL		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	protein_coding	OTTHUMT00000318003.1	G	NM_152322	rs201620480		108013765	1	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108013765	G	A	108013765	3	1	68	1	0	0	0	0	1	0	0	0	1541	1145	40	1	2602	1	BTBD11	12	108013765	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	50452519	108013765	25838130	31	3721											
COL4A1	1282	genome.wustl.edu	37	chr13	110831646	110831646	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgaagcccagggggtccGatcgctccatgttctccagg	12	15	1	1	rs377593990		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr13:110831646G>A	ENST00000375820.4	-	30	2437	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	772	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577																																																	0								ENSG00000187498	G		2,4404	4.2+/-10.8	0,2,2201	88	93	91		2316	-7.8	0	13		91	0,8600		0,0,4300	no	coding-synonymous	COL4A1	NM_001845.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		772/1670	110831646	2,13004	2203	4300	6503	COL4A1	SO:0001819	synonymous_variant	0			-	HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2316C>T	13.37:g.110831646G>A		Somatic	0	41	0		0.552198751195319	1615	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	75	13.79	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.I772	ENST00000375820.4	37	c.2316	CCDS9511.1	13																																																																																			-	pfam_Collagen		0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	G		-		110831646	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	silent	SNP	0.000	A	A	110831646	G	A	110831646	2	1	68	1	0	0	0	0	0	0	0	1	3691	1048	37	1		1	COL4A1	13	110831646	Silent	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		110831646	4338232	32	3722											
COL4A1	1282	genome.wustl.edu	37	chr13	110831720	110831720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgtgccaggaatgccggGaagacctggcaaacctttga	15	9	0	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr13:110831720G>A	ENST00000375820.4	-	30	2363	c.2242C>T	c.(2242-2244)Ccc>Tcc	p.P748S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	748	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAATGCCGGGAAGACCTGGC	0.557																																																	0								ENSG00000187498						69	73	72					13																	110831720		2203	4300	6503	COL4A1	SO:0001583	missense	0			-	HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2242C>T	13.37:g.110831720G>A	ENSP00000364979:p.Pro748Ser	Somatic	0	53	0		0.552198751195319	1646	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	56	26.32	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P748S	ENST00000375820.4	37	c.2242	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026338	0.54683	.	.	ENSG00000187498	ENST00000375820	D	0.97665	-4.48	4.7	4.7	0.59300	.	0.060648	0.64402	D	0.000003	D	0.97813	0.9282	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.97270	0.9910	10	0.29301	T	0.29	.	18.0343	0.89294	0.0:0.0:1.0:0.0	.	748	P02462	CO4A1_HUMAN	S	748	ENSP00000364979:P748S	ENSP00000364979:P748S	P	-	1	0	COL4A1	109629721	1.000000	0.71417	0.116000	0.21606	0.008000	0.06430	5.714000	0.68422	2.328000	0.79073	0.655000	0.94253	CCC	-	pfam_Collagen		0.557	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	G		-		110831720	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	SNP	0.891	A	A	110831720	G	A	110831720	3	1	68	1	0	0	0	0	1	0	0	0	3691	1174	41	2	2859	2	COL4A1	13	110831720	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	74	110831720	4338158	33	3723											
INO80	54617	genome.wustl.edu	37	chr15	41272454	41272454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggttggtgcctttgccCtgtttccggaccagagagtc	15	10	0	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr15:41272454C>A	ENST00000361937.3	-	36	5062	c.4638G>T	c.(4636-4638)caG>caT	p.Q1546H	INO80_ENST00000401393.3_Missense_Mutation_p.Q1546H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1546	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCCTTTGCCCTGTTTCCGGA	0.557																																																	0								ENSG00000128908						134	126	129					15																	41272454		2203	4300	6503	INO80	SO:0001583	missense	0			-	HGNC	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4638G>T	15.37:g.41272454C>A	ENSP00000355205:p.Gln1546His	Somatic	0	39	0		0.552198751195319	51	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6H8X4|Q9NTG6	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1546H	ENST00000361937.3	37	c.4638	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951190	0.18431	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	D;D	0.90900	-2.75;-2.75	5.4	4.49	0.54785	.	0.153645	0.43747	D	0.000522	T	0.74344	0.3704	N	0.03608	-0.345	0.34361	D	0.691021	B	0.06786	0.001	B	0.04013	0.001	T	0.70142	-0.4953	10	0.30854	T	0.27	.	3.8074	0.08783	0.1893:0.5956:0.0:0.2151	.	1546	Q9ULG1	INO80_HUMAN	H	182;1546;1546	ENSP00000355205:Q1546H;ENSP00000384686:Q1546H	ENSP00000263793:Q182H	Q	-	3	2	INO80	39059746	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.573000	0.36472	1.517000	0.48917	0.655000	0.94253	CAG	-	NULL		0.557	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	protein_coding	OTTHUMT00000252527.2	C	NM_017553	-		41272454	-1	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41272454	C	A	41272454	3	1	68	1	0	0	0	0	1	0	0	0	7748	680	24	3	36	3	INO80	15	41272454	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		41272454	61258938	34	3724											
COQ9	57017	genome.wustl.edu	37	chr16	57486822	57486822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgcccacgggtggacaGcagaggcgattgcagaagga	16	11	0	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr16:57486822G>T	ENST00000262507.6	+	3	421	c.352G>T	c.(352-354)Gca>Tca	p.A118S	COQ9_ENST00000567933.1_Missense_Mutation_p.A118S|COQ9_ENST00000567072.1_Missense_Mutation_p.A118S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	118					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CGGGTGGACAGCAGAGGCGAT	0.632																																																	0								ENSG00000088682						94	83	87					16																	57486822		2198	4300	6498	COQ9	SO:0001583	missense	0			-	HGNC	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.352G>T	16.37:g.57486822G>T	ENSP00000262507:p.Ala118Ser	Somatic	0	44	0		0.552198751195319	373	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP							pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9	p.A118S	ENST00000262507.6	37	c.352	CCDS32459.1	16	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472001	0.43942	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	2.93	0.34026	.	0.286626	0.38605	N	0.001632	T	0.28200	0.0696	L	0.37897	1.145	0.26825	N	0.96871	B;P;P;B;B	0.35628	0.041;0.499;0.513;0.036;0.091	B;B;B;B;B	0.34873	0.018;0.102;0.191;0.017;0.039	T	0.12451	-1.0547	9	0.09590	T	0.72	-7.9282	11.7967	0.52104	0.0:0.1301:0.736:0.1339	.	118;118;118;118;118	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	118	.	ENSP00000262507:A118S	A	+	1	0	COQ9	56044323	1.000000	0.71417	0.966000	0.40874	0.980000	0.70556	3.044000	0.49830	2.325000	0.78763	0.650000	0.86243	GCA	-	superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9		0.632	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ9	protein_coding	OTTHUMT00000432598.3	G	NM_020312	-		57486822	1	no_errors	ENST00000262507	ensembl	human	known	74_37	missense	SNP	0.602	T	T	57486822	G	T	57486822	3	4	68	1	0	0	0	0	1	0	0	0	3753	971	34	3	362	3	COQ9	16	57486822	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		57486822	32867931	35	3725											
BPTF	2186	genome.wustl.edu	37	chr17	65955758	65955759	+	In_Frame_Ins	INS	-	-	CCTCCAGCC													gccccccagtgacaccagctINScctccagcccctccagcccc					rs139709271|rs202116659		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr17:65955758_65955759insCCTCCAGCC	ENST00000321892.4	+	26	8467_8468	c.8406_8407insCCTCCAGCC	c.(8407-8409)cct>CCTCCAGCCcct	p.2803_2803P>PPAP	BPTF_ENST00000335221.5_In_Frame_Ins_p.2660_2660P>PPAP|BPTF_ENST00000424123.3_In_Frame_Ins_p.2521_2521P>PPAP|BPTF_ENST00000306378.6_In_Frame_Ins_p.2677_2677P>PPAP			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2803	Pro-rich.			AP -> VL (in Ref. 1; BAA89208). {ECO:0000305}.	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.A2676A(1)|p.A2659A(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)			TGACAccagctcctccagcccc	0.579																																																	2	Substitution - coding silent(2)	large_intestine(2)						ENSG00000171634																																			BPTF	SO:0001652	inframe_insertion	0				HGNC	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.8416_8424dupCCTCCAGCC	17.37:g.65955759_65955767dupCCTCCAGCC	ENSP00000315454:p.ProAlaPro2809dup	Somatic					0.552198751195319	64	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS							pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.2806in_frame_insPAP	ENST00000321892.4	37	c.8406_8407		17																																																																																			-	superfamily_Bromodomain,superfamily_Adenylate_cyclase-assoc_CAP_N		0.579	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		-	NM_182641, NM_004459			65955759	1	no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.001	CCTCCAGCC	CCTCCAGCC	65955759	-	CCTCCAGCC	65955758	7	5	68	1	0	1	1	0	0	0	0	0	1497	1538	54	0	8508	0	BPTF	17	65955758	In_Frame_Ins	INS	-	TCGA-DX-A6B9-01A-12D-A32I-09		65955758	15239452	36	3726											
PSMA8	143471	genome.wustl.edu	37	chr18	23731924	23731924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtagaatacataactcGcttcatagcaactttaaagc	5	10	1	1	rs371854509		TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr18:23731924G>A	ENST00000308268.6	+	3	439	c.350G>A	c.(349-351)cGc>cAc	p.R117H	PSMA8_ENST00000415576.2_Missense_Mutation_p.R111H|PSMA8_ENST00000343848.6_Missense_Mutation_p.R73H	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	117					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TACATAACTCGCTTCATAGCA	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		15159	0		0	False		,,,				2504	0																0								ENSG00000154611	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	96	86	89		332,218,350	5.3	1	18		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PSMA8	NM_001025096.1,NM_001025097.1,NM_144662.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	111/251,73/213,117/257	23731924	1,13005	2203	4300	6503	PSMA8	SO:0001583	missense	0			-	HGNC	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.350G>A	18.37:g.23731924G>A	ENSP00000311121:p.Arg117His	Somatic	0	59	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	44	46.34	B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP							pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.R117H	ENST00000308268.6	37	c.350	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237688	0.79800	0.0	1.16E-4	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	T;T;T	0.45668	0.89;0.89;0.89	5.34	5.34	0.76211	.	0.109676	0.64402	N	0.000005	T	0.55970	0.1954	M	0.78456	2.415	0.80722	D	1	P;D;P;B	0.53745	0.651;0.962;0.953;0.227	B;P;P;B	0.49665	0.081;0.618;0.483;0.119	T	0.62562	-0.6828	10	0.87932	D	0	-5.3374	16.5892	0.84760	0.0:0.0:1.0:0.0	.	85;117;111;73	F5GY34;Q8TAA3;Q8TAA3-5;Q8TAA3-2	.;PSA7L_HUMAN;.;.	H	117;111;73;85;73	ENSP00000311121:R117H;ENSP00000409284:R111H;ENSP00000345584:R73H	ENSP00000311121:R117H	R	+	2	0	PSMA8	21985922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.640000	0.61368	2.785000	0.95823	0.655000	0.94253	CGC	-	pfam_Proteasome_sua/b		0.393	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	protein_coding	OTTHUMT00000446255.1	G	NM_144662	-		23731924	1	no_errors	ENST00000308268	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23731924	G	A	23731924	3	1	68	1	0	0	0	0	1	0	0	0	12678	1087	38	1	360	1	PSMA8	18	23731924	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		23731924	54345324	37	3727											
ADAMTS1	9510	genome.wustl.edu	37	chr21	28214702	28214702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatagtgctctgcatcccGgtcactgggtgggttgtgct	14	10	3	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr21:28214702G>T	ENST00000284984.3	-	2	1487	c.1033C>A	c.(1033-1035)Cgg>Agg	p.R345R		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	345	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)		TCTGCATCCCGGTCACTGGGT	0.527																																																	0								ENSG00000154734						95	71	79					21																	28214702		2203	4300	6503	ADAMTS1	SO:0001819	synonymous_variant	0			-	HGNC	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.1033C>A	21.37:g.28214702G>T		Somatic	0	52	0		0.552198751195319	172	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.R345	ENST00000284984.3	37	c.1033	CCDS33524.1	21																																																																																			-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	protein_coding	OTTHUMT00000171650.2	G		-		28214702	-1	no_errors	ENST00000284984	ensembl	human	known	74_37	silent	SNP	0.999	T	T	28214702	G	T	28214702	2	4	68	1	0	0	0	0	0	0	0	1	255	1115	39	3		3	ADAMTS1	21	28214702	Silent	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		28214702	19915193	38	3728											
CELSR1	9620	genome.wustl.edu	37	chr22	46931967	46931967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcacctcgtagcccacCtccaggttctcccgcacgcg	9	19	2	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr22:46931967C>A	ENST00000262738.3	-	1	1100	c.1101G>T	c.(1099-1101)gaG>gaT	p.E367D	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.E367D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	367	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		CGTAGCCCACCTCCAGGTTCT	0.652																																																	0								ENSG00000075275						39	36	37					22																	46931967		2199	4298	6497	CELSR1	SO:0001583	missense	0			-	HGNC	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.1101G>T	22.37:g.46931967C>A	ENSP00000262738:p.Glu367Asp	Somatic	0	35	0		0.552198751195319	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.E367D	ENST00000262738.3	37	c.1101	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431358	0.62844	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01745	4.66;4.66	4.44	2.33	0.28932	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	U	0.000004	T	0.03959	0.0111	L	0.39147	1.195	0.29062	N	0.883851	P	0.49635	0.926	P	0.57620	0.824	T	0.24225	-1.0166	10	0.33141	T	0.24	.	10.168	0.42893	0.0:0.8329:0.0:0.1671	.	367	Q9NYQ6	CELR1_HUMAN	D	367	ENSP00000262738:E367D;ENSP00000379293:E367D	ENSP00000262738:E367D	E	-	3	2	CELSR1	45310631	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	0.941000	0.29005	0.355000	0.24131	0.456000	0.33151	GAG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	C	NM_014246	-		46931967	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46931967	C	A	46931967	3	1	68	1	0	0	0	0	1	0	0	0	3223	680	24	3	8083	3	CELSR1	22	46931967	Missense_Mutation	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09		46931967	4372599	39	3729											
NCAPH2	29781	genome.wustl.edu	37	chr22	50961469	50961469	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcatgtgccctttgacatCcacacctatggggaccagct	9	14	0	1			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chr22:50961469C>A	ENST00000420993.2	+	19	1673	c.1551C>A	c.(1549-1551)atC>atA	p.I517I	NCAPH2_ENST00000395701.3_Silent_p.I517I|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000299821.11_Silent_p.I518I	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	517					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCTTTGACATCCACACCTATG	0.637																																																	0								ENSG00000025770						58	41	46					22																	50961469		2203	4300	6503	NCAPH2	SO:0001819	synonymous_variant	0			-	HGNC	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1551C>A	22.37:g.50961469C>A		Somatic	0	38	0		0.552198751195319	174	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent	SNP							pfam_Condensin_II_H2-like	p.I518	ENST00000420993.2	37	c.1554	CCDS14094.2	22																																																																																			-	pfam_Condensin_II_H2-like		0.637	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	protein_coding	OTTHUMT00000317012.1	C	NM_152299	-		50961469	1	no_errors	ENST00000299821	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50961469	C	A	50961469	2	1	68	1	0	0	0	0	0	0	0	1	10212	845	30	3		3	NCAPH2	22	50961469	Silent	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	4029502	50961469	343097	40	3730											
ODZ1	10178	genome.wustl.edu	37	chrX	123556417	123556417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaatttgcagcacaatGttgttatccaagacatacaa	6	8	1	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chrX:123556417G>T	ENST00000371130.3	-	23	4218	c.4155C>A	c.(4153-4155)aaC>aaA	p.N1385K	TENM1_ENST00000422452.2_Missense_Mutation_p.N1392K|STAG2_ENST00000469481.1_3'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1385					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCAGCACAATGTTGTTATCCA	0.473																																																	0								ENSG00000009694						151	125	134					X																	123556417		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4155C>A	X.37:g.123556417G>T	ENSP00000360171:p.Asn1385Lys	Somatic	0	27	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.N1392K	ENST00000371130.3	37	c.4176	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877977	0.72294	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90444	-2.67;-2.67	5.68	2.97	0.34412	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95156	0.8430	M	0.90369	3.11	0.58432	D	0.999997	D;D;P	0.69078	0.997;0.993;0.944	D;P;P	0.75484	0.986;0.787;0.554	D	0.93556	0.6891	10	0.87932	D	0	.	8.5659	0.33538	0.3034:0.0:0.6966:0.0	.	1391;1392;1385	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1385;1392	ENSP00000360171:N1385K;ENSP00000403954:N1392K	ENSP00000360171:N1385K	N	-	3	2	ODZ1	123384098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.972000	0.49256	0.204000	0.20548	0.594000	0.82650	AAC	-	NULL		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	G	NM_014253	-		123556417	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123556417	G	T	123556417	3	4	68	1	0	0	0	0	1	0	0	0	10836	1368	48	3	4058	3	ODZ1	23	123556417	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09		123556417	31714143	41	3731											
HTATSF1	27336	genome.wustl.edu	37	chrX	135586547	135586547	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggattggagacctgagagGcgagccggaccatcccggat	15	10	0	2			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chrX:135586547G>T	ENST00000218364.4	+	6	933	c.759G>T	c.(757-759)agG>agT	p.R253S	HTATSF1_ENST00000535601.1_Missense_Mutation_p.R253S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	253					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GACCTGAGAGGCGAGCCGGAC	0.448																																																	0								ENSG00000102241						111	92	99					X																	135586547		2203	4300	6503	HTATSF1	SO:0001583	missense	0			-	HGNC	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.759G>T	X.37:g.135586547G>T	ENSP00000218364:p.Arg253Ser	Somatic	0	37	0		0.552198751195319	213	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R253S	ENST00000218364.4	37	c.759	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258443	0.59321	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.23552	1.9;1.9	5.77	1.7	0.24286	.	0.087322	0.85682	D	0.000000	T	0.27933	0.0688	L	0.43923	1.385	0.34011	D	0.651484	D	0.55605	0.972	P	0.50136	0.632	T	0.38308	-0.9667	10	0.66056	D	0.02	-8.4771	9.9163	0.41436	0.276:0.0:0.724:0.0	.	253	O43719	HTSF1_HUMAN	S	253	ENSP00000442699:R253S;ENSP00000218364:R253S	ENSP00000218364:R253S	R	+	3	2	HTATSF1	135414213	1.000000	0.71417	0.774000	0.31636	0.972000	0.66771	1.230000	0.32612	-0.100000	0.12241	0.538000	0.68166	AGG	-	NULL		0.448	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	protein_coding	OTTHUMT00000058497.1	G	NM_014500	-		135586547	1	no_errors	ENST00000218364	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135586547	G	T	135586547	3	4	68	1	0	0	0	0	1	0	0	0	7435	1194	42	3	781	3	HTATSF1	23	135586547	Missense_Mutation	SNP	G	TCGA-DX-A6B9-01A-12D-A32I-09	12030130	135586547	19684013	42	3732											
MAGEA1	4100	genome.wustl.edu	37	chrX	152482246	152482246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgtgcgggatcactgtcCggcacctgccggtactccag	13	14	1	0			TCGA-DX-A6B9-01A-12D-A32I-09	TCGA-DX-A6B9-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e062c178-feb3-4e3f-8ecb-f8bb99831131	d4f1cdfe-f1dd-496c-9021-403dd1e67786	g.chrX:152482246C>T	ENST00000356661.5	-	3	983	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	255	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCACTGTCCGGCACCTGCC	0.557																																																	0								ENSG00000198681						95	91	92					X																	152482246		2203	4300	6503	MAGEA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.765G>A	X.37:g.152482246C>T		Somatic	0	93	0		0.552198751195319	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	76	38.21	B2RC81|O00346	Silent	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P255	ENST00000356661.5	37	c.765	CCDS14720.1	X																																																																																			-	pfam_MAGE,pfscan_MAGE		0.557	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA1	protein_coding	OTTHUMT00000060940.1	C	NM_004988	-		152482246	-1	no_errors	ENST00000356661	ensembl	human	known	74_37	silent	SNP	0.000	T	T	152482246	C	T	152482246	2	4	68	1	0	0	0	0	0	0	0	1	9165	639	23	1		1	MAGEA1	23	152482246	Silent	SNP	C	TCGA-DX-A6B9-01A-12D-A32I-09	16895699	152482246	2788314	43	3733											
EIF4G3	8672	genome.wustl.edu	37	chr1	21183897	21183906	+	Splice_Site	DEL	TTAGTGATTT	TTAGTGATTT	-													ctttaaatgtcagactcaccTtagtgatttttaggaatttt					rs202143636		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	TTAGTGATTT	TTAGTGATTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr1:21183897_21183906delTTAGTGATTT	ENST00000264211.8	-	19	3355_3364	c.3161_3170delAAATCACTAA	c.(3160-3171)aaaatcactaag>ag	p.KITK1054fs	EIF4G3_ENST00000374937.3_Splice_Site_p.KITK1060fs|EIF4G3_ENST00000374935.3_Splice_Site_p.KITK774fs|EIF4G3_ENST00000400422.1_Splice_Site_p.KITK1054fs|EIF4G3_ENST00000602326.1_Splice_Site_p.KITK1060fs|EIF4G3_ENST00000537738.1_Splice_Site_p.KITK544fs|EIF4G3_ENST00000536266.1_Splice_Site_p.KITK658fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1054					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGACTCACCTTAGTGATTTTTAGGAATTT	0.438																																																	0								ENSG00000075151																																			EIF4G3	SO:0001630	splice_region_variant	0				HGNC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3171+1AAATCACTAA>-	1.37:g.21183897_21183906delTTAGTGATTT		Somatic					0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.K1060fs	ENST00000264211.8	37	c.3188_3179	CCDS214.1	1																																																																																			-	NULL		0.438	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	TTAGTGATTT	NM_003760		Frame_Shift_Del	21183906	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	21183906	TTAGTGATTT	-	21183897	8	5	69	1	0	1	0	1	0	0	1	0	5040	1623	56	0	1639	0	EIF4G3	1	21183897	Splice_Site	DEL	TTAGTGATTT	TCGA-DX-A6BA-01A-11D-A307-09		21183897	228066724	1	3734											
AKNAD1	254268	genome.wustl.edu	37	chr1	109394841	109394842	+	In_Frame_Ins	INS	-	-	TAA													ataacatgaaataatactttINStaataatagcttcctcttca							TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr1:109394841_109394842insTAA	ENST00000370001.3	-	2	713_714	c.445_446insTTA	c.(445-447)aaa>aTTAaa	p.148_149insI	AKNAD1_ENST00000369994.1_In_Frame_Ins_p.148_149insI|AKNAD1_ENST00000369995.3_In_Frame_Ins_p.148_149insI|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	148						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AATAATACTTTTAATAATAGCT	0.386																																																	0								ENSG00000162641																																			AKNAD1	SO:0001652	inframe_insertion	0				HGNC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.443_445dupTTA	1.37:g.109394845_109394847dupTAA	ENSP00000359018:p.Ile148_Ile148dup	Somatic	0	61	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	B9EK62|Q5T1N0|Q8N990|Q8NCN9	In_Frame_Ins	INS							pfam_TF_AT-hook	p.149in_frame_insI	ENST00000370001.3	37	c.446_445	CCDS791.2	1																																																																																			-	NULL		0.386	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	protein_coding	OTTHUMT00000030923.2	-	NM_152763			109394842	-1	no_errors	ENST00000370001	ensembl	human	known	74_37	in_frame_ins	INS	0.324:0.324	TAA	TAA	109394842	-	TAA	109394841	7	5	69	1	0	1	1	0	0	0	0	0	464	1841	64	0	2124	0	AKNAD1	1	109394841	In_Frame_Ins	INS	-	TCGA-DX-A6BA-01A-11D-A307-09	88210944	109394841	139855780	2	3735											
FMO2	2327	genome.wustl.edu	37	chr1	171178052	171178052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcaaagatcctaaacTggctgtgagactctatttcg	8	9	2	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr1:171178052T>A	ENST00000209929.7	+	9	1534	c.1376T>A	c.(1375-1377)cTg>cAg	p.L459Q	FMO2_ENST00000441535.1_Missense_Mutation_p.L459Q|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	457					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATCCTAAACTGGCTGTGAGA	0.493																																																	0								ENSG00000094963						204	199	201					1																	171178052		2203	4300	6503	FMO2	SO:0001583	missense	0			-	HGNC	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1376T>A	1.37:g.171178052T>A	ENSP00000209929:p.Leu459Gln	Somatic	0	133	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	59	52.03	Q53XR0	Missense_Mutation	SNP							pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.L459Q	ENST00000209929.7	37	c.1376	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054613	0.55218	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.65364	-0.15;-0.15	5.99	4.83	0.62350	.	0.070231	0.64402	D	0.000016	T	0.80093	0.4560	H	0.94385	3.53	0.43647	D	0.996052	D	0.89917	1.0	D	0.97110	1.0	D	0.85435	0.1151	10	0.87932	D	0	-13.6966	12.34	0.55089	0.0:0.0:0.1413:0.8587	.	459	Q99518	FMO2_HUMAN	Q	459	ENSP00000209929:L459Q;ENSP00000405905:L459Q	ENSP00000209929:L459Q	L	+	2	0	FMO2	169444676	1.000000	0.71417	0.796000	0.32109	0.092000	0.18411	7.923000	0.87546	1.038000	0.40049	0.533000	0.62120	CTG	-	pfam_Flavin_mOase-like		0.493	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	protein_coding	OTTHUMT00000086216.2	T	NM_001460	-		171178052	1	no_errors	ENST00000209929	ensembl	human	known	74_37	missense	SNP	1.000	A	A	171178052	T	A	171178052	3	1	69	1	0	0	0	0	1	0	0	0	5957	1580	55	5	1406	5	FMO2	1	171178052	Missense_Mutation	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09	61783211	171178052	78072569	3	3736											
RASAL2	9462	genome.wustl.edu	37	chr1	178427011	178427011	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acactcatgctgctcaagtgGagcatgcatctgtcatgctt	9	11	4	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr1:178427011G>T	ENST00000462775.1	+	12	2286	c.2161G>T	c.(2161-2163)Gag>Tag	p.E721*	RASAL2_ENST00000367649.3_Nonsense_Mutation_p.E862*|RASAL2_ENST00000448150.3_Nonsense_Mutation_p.E851*	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	721					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCTCAAGTGGAGCATGCATC	0.522																																																	0								ENSG00000075391						91	84	87					1																	178427011		2203	4300	6503	RASAL2	SO:0001587	stop_gained	0			-	HGNC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2161G>T	1.37:g.178427011G>T	ENSP00000420558:p.Glu721*	Somatic	0	40	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP							pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E862*	ENST00000462775.1	37	c.2584	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.881017|5.881017	0.97062|0.97062	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.255145|.	0.39146|.	N|.	0.001454|.	.|T	.|0.76169	.|0.3950	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74870	.|-0.3517	.|3	0.12430|.	T|.	0.62|.	.|.	19.2521|19.2521	0.93929|0.93929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	851;862;721|271	.|.	ENSP00000356621:E862X|.	E|G	+|+	1|2	0|0	RASAL2|RASAL2	176693634|176693634	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.744000|0.744000	0.42396|0.42396	3.999000|3.999000	0.57031|0.57031	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	pfam_DUF3498		0.522	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000084758.3	G	NM_170692	-		178427011	1	no_errors	ENST00000367649	ensembl	human	known	74_37	nonsense	SNP	0.985	T	T	178427011	G	T	178427011	4	4	69	1	0	0	0	0	0	1	0	0	13072	1175	41	3	2676	3	RASAL2	1	178427011	Nonsense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	7248959	178427011	70823610	4	3737											
LAMB3	3914	genome.wustl.edu	37	chr1	209791807	209791807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggccatacctggcttcctCagcctcagcctgcaaccggc	9	17	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr1:209791807C>T	ENST00000356082.4	-	19	3033	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	LAMB3_ENST00000367030.3_Missense_Mutation_p.E967K|LAMB3_ENST00000391911.1_Missense_Mutation_p.E967K	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	967	Domain I.				brown fat cell differentiation (GO:0050873)|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)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGCTTCCTCAGCCTCAGCC	0.617																																																	0								ENSG00000196878						48	50	49					1																	209791807		2203	4300	6503	LAMB3	SO:0001583	missense	0			-	HGNC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2899G>A	1.37:g.209791807C>T	ENSP00000348384:p.Glu967Lys	Somatic	0	75	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	63	30.77	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.E967K	ENST00000356082.4	37	c.2899	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775167	0.70107	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.21543	2.0;2.0;2.0;2.06	5.01	5.01	0.66863	.	0.057193	0.64402	D	0.000001	T	0.35098	0.0920	L	0.36672	1.1	0.42647	D	0.993436	D	0.76494	0.999	D	0.80764	0.994	T	0.04708	-1.0932	10	0.14252	T	0.57	.	17.9765	0.89129	0.0:1.0:0.0:0.0	.	967	Q13751	LAMB3_HUMAN	K	967;967;967;36	ENSP00000375778:E967K;ENSP00000348384:E967K;ENSP00000355997:E967K;ENSP00000398683:E36K	ENSP00000348384:E967K	E	-	1	0	LAMB3	207858430	0.991000	0.36638	0.987000	0.45799	0.639000	0.38242	2.663000	0.46774	2.344000	0.79699	0.555000	0.69702	GAG	-	NULL		0.617	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	protein_coding	OTTHUMT00000088525.2	C	NM_000228	-		209791807	-1	no_errors	ENST00000356082	ensembl	human	known	74_37	missense	SNP	0.971	T	T	209791807	C	T	209791807	3	4	69	1	0	0	0	0	1	0	0	0	8614	835	29	2	639	2	LAMB3	1	209791807	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	31364796	209791807	39458814	5	3738											
CAPN9	10753	genome.wustl.edu	37	chr1	230898442	230898442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtggtgatcgatgaccGcctgcccaccttcagggacc	13	14	1	2	rs201859022		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr1:230898442G>A	ENST00000271971.2	+	4	559	c.446G>A	c.(445-447)cGc>cAc	p.R149H	CAPN9_ENST00000354537.1_Missense_Mutation_p.R149H|CAPN9_ENST00000366666.2_Missense_Mutation_p.R86H|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	149	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATCGATGACCGCCTGCCCACC	0.567																																																	0								ENSG00000135773						123	109	114					1																	230898442		2203	4300	6503	CAPN9	SO:0001583	missense	0			-	HGNC	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.446G>A	1.37:g.230898442G>A	ENSP00000271971:p.Arg149His	Somatic	0	150	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	54	54.47	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.R149H	ENST00000271971.2	37	c.446	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886442	0.91814	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.18657	2.2;2.2;2.2	5.33	5.33	0.75918	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.68569	-0.5374	10	0.72032	D	0.01	.	13.3397	0.60538	0.0762:0.0:0.9238:0.0	.	86;149;149	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	H	149;149;86	ENSP00000271971:R149H;ENSP00000346538:R149H;ENSP00000355626:R86H	ENSP00000271971:R149H	R	+	2	0	CAPN9	228965065	1.000000	0.71417	0.954000	0.39281	0.940000	0.58332	7.358000	0.79466	2.489000	0.83994	0.591000	0.81541	CGC	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat		0.567	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	protein_coding	OTTHUMT00000092179.1	G	NM_006615	rs201859022		230898442	1	no_errors	ENST00000271971	ensembl	human	known	74_37	missense	SNP	0.999	A	A	230898442	G	A	230898442	3	1	69	1	0	0	0	0	1	0	0	0	2634	1087	38	1	460	1	CAPN9	1	230898442	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	21106635	230898442	18352179	6	3739											
PRKCE	5581	genome.wustl.edu	37	chr2	46378274	46378300	+	In_Frame_Del	DEL	CCGACAATGAGGACGACCTATTTGAGT	CCGACAATGAGGACGACCTATTTGAGT	-													tggacagcctccctttgaggCcgacaatgaggacgacctat					rs369510461		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	CCGACAATGAGGACGACCTATTTGAGT	CCGACAATGAGGACGACCTATTTGAGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr2:46378274_46378300delCCGACAATGAGGACGACCTATTTGAGT	ENST00000306156.3	+	13	2153_2179	c.1826_1852delCCGACAATGAGGACGACCTATTTGAGT	c.(1825-1854)gccgacaatgaggacgacctatttgagtcc>gcc	p.DNEDDLFES610del		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.N611N(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CCCTTTGAGGCCGACAATGAGGACGACCTATTTGAGTCCATCCTCCA	0.581																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000171132																																			PRKCE	SO:0001651	inframe_deletion	0				HGNC		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1826_1852delCCGACAATGAGGACGACCTATTTGAGT	2.37:g.46378274_46378300delCCGACAATGAGGACGACCTATTTGAGT	ENSP00000306124:p.Asp610_Ser618del	Somatic					0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	In_Frame_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.DNEDDLFES610in_frame_del	ENST00000306156.3	37	c.1826_1852	CCDS1824.1	2																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom		0.581	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	protein_coding	OTTHUMT00000250751.2	CCGACAATGAGGACGACCTATTTGAGT				46378300	1	no_errors	ENST00000306156	ensembl	human	known	74_37	in_frame_del	DEL	1.000:0.054:1.000:1.000:1.000:1.000:1.000:0.814:1.000:1.000:1.000:1.000:1.000:0.979:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	46378300	CCGACAATGAGGACGACCTATTTGAGT	-	46378274	7	5	69	1	0	1	0	1	0	0	0	0	12516	739	26	0	1876	0	PRKCE	2	46378274	In_Frame_Del	DEL	CCGACAATGAGGACGACCTATTTGAGT	TCGA-DX-A6BA-01A-11D-A307-09		46378274	196821099	7	3740											
BOLL	66037	genome.wustl.edu	37	chr2	198621169	198621169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctctggaactgaagtttCcatcagagacagtggaggag	12	8	2	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr2:198621169C>T	ENST00000392296.4	-	9	1021	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	BOLL_ENST00000282278.8_Missense_Mutation_p.E129K|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000321801.7_Missense_Mutation_p.E250K|BOLL_ENST00000430004.1_Missense_Mutation_p.E260K|BOLL_ENST00000433157.1_Missense_Mutation_p.E238K	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	238					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACTGAAGTTTCCATCAGAGAC	0.358																																																	0								ENSG00000152430						78	76	77					2																	198621169		2203	4300	6503	BOLL	SO:0001583	missense	0			-	HGNC		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.712G>A	2.37:g.198621169C>T	ENSP00000376116:p.Glu238Lys	Somatic	0	34	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	27	46.00	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP							pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.E250K	ENST00000392296.4	37	c.748	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457576	0.84317	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.31769	1.48;1.81;1.81;1.81	5.46	5.46	0.80206	.	0.072565	0.52532	D	0.000070	T	0.42539	0.1207	N	0.24115	0.695	0.37336	D	0.910196	B;P;D;D;D	0.67145	0.449;0.95;0.99;0.965;0.996	B;P;D;P;P	0.72982	0.107;0.469;0.979;0.708;0.848	T	0.50355	-0.8838	10	0.87932	D	0	-21.8573	16.2217	0.82262	0.0:1.0:0.0:0.0	.	129;266;250;238;244	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	K	260;238;250;129;238	ENSP00000397711:E260K;ENSP00000376116:E238K;ENSP00000314792:E250K;ENSP00000396099:E238K	ENSP00000282278:E129K	E	-	1	0	BOLL	198329414	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.725000	0.61979	2.577000	0.86979	0.557000	0.71058	GAA	-	NULL		0.358	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	protein_coding	OTTHUMT00000256107.3	C	NM_033030	-		198621169	-1	no_errors	ENST00000321801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	198621169	C	T	198621169	3	4	69	1	0	0	0	0	1	0	0	0	1489	864	30	2	151	2	BOLL	2	198621169	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	152242895	198621169	44578204	8	3741											
COL4A3	1285	genome.wustl.edu	37	chr2	228148947	228148947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccctggaattccaggaGtaaagggccagagaggaacc	15	9	0	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr2:228148947G>A	ENST00000396578.3	+	34	2929	c.2767G>A	c.(2767-2769)Gta>Ata	p.V923I	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	923	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AATTCCAGGAGTAAAGGGCCA	0.483																																																	0								ENSG00000169031						53	60	58					2																	228148947		1831	4087	5918	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2767G>A	2.37:g.228148947G>A	ENSP00000379823:p.Val923Ile	Somatic	0	68	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	100	14.53	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V923I	ENST00000396578.3	37	c.2767	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230460	0.22542	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93307	-3.2	5.79	-3.15	0.05233	.	1.264450	0.05582	N	0.573076	T	0.81083	0.4749	N	0.03967	-0.31	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.004;0.004;0.004;0.007	T	0.69738	-0.5064	10	0.23302	T	0.38	.	6.1142	0.20117	0.3896:0.3043:0.3061:0.0	.	923;923;923;923	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	I	923	ENSP00000379823:V923I	ENSP00000323334:V923I	V	+	1	0	COL4A3	227857191	0.000000	0.05858	0.022000	0.16811	0.410000	0.31052	-0.405000	0.07196	-0.268000	0.09312	0.655000	0.94253	GTA	-	pfam_Collagen		0.483	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	G	NM_000091	-		228148947	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.010	A	A	228148947	G	A	228148947	3	1	69	1	0	0	0	0	1	0	0	0	3693	1029	36	2	2901	2	COL4A3	2	228148947	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	29527778	228148947	15050426	9	3742											
FGD5	152273	genome.wustl.edu	37	chr3	14861642	14861642	+	Frame_Shift_Del	DEL	C	C	-													gttcttcccaactgagagcaCctctttttgcagcgagagct							TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr3:14861642delC	ENST00000285046.5	+	1	1174	c.1064delC	c.(1063-1065)accfs	p.T355fs	FGD5_ENST00000543601.1_Frame_Shift_Del_p.T114fs	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	355					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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACTGAGAGCACCTCTTTTTGC	0.532																																																	0								ENSG00000154783						67	68	67					3																	14861642		1912	4145	6057	FGD5	SO:0001589	frameshift_variant	0				HGNC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1064delC	3.37:g.14861642delC	ENSP00000285046:p.Thr355fs	Somatic	0	103	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	64	47.97	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Frame_Shift_Del	DEL							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S356fs	ENST00000285046.5	37	c.1064	CCDS46767.1	3																																																																																			-	NULL		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	protein_coding	OTTHUMT00000340628.1	C	NM_152536			14861642	1	no_errors	ENST00000285046	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	14861642	C	-	14861642	7	5	69	1	0	1	0	1	0	0	0	0	5838	507	18	0	1066	0	FGD5	3	14861642	Frame_Shift_Del	DEL	C	TCGA-DX-A6BA-01A-11D-A307-09		14861642	183160788	10	3743											
C3orf23	285343	genome.wustl.edu	37	chr3	44402983	44402983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaacagaccagagttcctccGatggccaggaaccttttagt	9	11	0	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr3:44402983G>T	ENST00000342649.4	+	4	719	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	TCAIM_ENST00000417237.1_Missense_Mutation_p.D98Y	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	98						mitochondrion (GO:0005739)											GAGTTCCTCCGATGGCCAGGA	0.398																																																	0								ENSG00000179152						66	65	66					3																	44402983		2203	4300	6503	TCAIM	SO:0001583	missense	0			-	HGNC		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.292G>T	3.37:g.44402983G>T	ENSP00000341539:p.Asp98Tyr	Somatic	0	75	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	32	57.89	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP							NULL	p.D98Y	ENST00000342649.4	37	c.292	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630369	0.67015	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.47869	0.83;0.83	5.4	5.4	0.78164	.	0.655619	0.16337	N	0.218873	T	0.40222	0.1108	N	0.14661	0.345	0.40605	D	0.981614	P	0.45212	0.853	P	0.51324	0.666	T	0.37056	-0.9722	10	0.66056	D	0.02	.	7.0511	0.25073	0.2105:0.0:0.7895:0.0	.	98	Q8N3R3	CC023_HUMAN	Y	98	ENSP00000402581:D98Y;ENSP00000341539:D98Y	ENSP00000341539:D98Y	D	+	1	0	C3orf23	44377987	0.998000	0.40836	0.741000	0.31004	0.928000	0.56348	3.153000	0.50685	2.528000	0.85240	0.467000	0.42956	GAT	-	NULL		0.398	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	protein_coding	OTTHUMT00000256655.2	G	NM_173826	-		44402983	1	no_errors	ENST00000342649	ensembl	human	known	74_37	missense	SNP	0.943	T	T	44402983	G	T	44402983	3	4	69	1	0	0	0	0	1	0	0	0	2218	1058	37	3	354	3	C3orf23	3	44402983	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	29541341	44402983	153619447	11	3744											
ZBTB38	253461	genome.wustl.edu	37	chr3	141164801	141164801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataacatacaaaccggtgtgGaaaatgttgtcctttgagtg	10	6	0	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr3:141164801G>A	ENST00000514251.1	+	4	3850	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E1192K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E1191K					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AACCGGTGTGGAAAATGTTGT	0.343																																																	0								ENSG00000177311						81	82	81					3																	141164801		1836	4085	5921	ZBTB38	SO:0001583	missense	0			-	HGNC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3571G>A	3.37:g.141164801G>A	ENSP00000426387:p.Glu1191Lys	Somatic	0	45	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E1192K	ENST00000514251.1	37	c.3574	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	0.276	-0.989597	0.02162	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09350	2.99;2.99;2.99	5.5	5.5	0.81552	.	0.660676	0.13948	N	0.351707	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.33445	-0.9868	9	.	.	.	-1.1738	15.9537	0.79865	0.0:0.1441:0.8559:0.0	.	1192;1191	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	1191;1191;1192	ENSP00000426387:E1191K;ENSP00000406955:E1191K;ENSP00000372635:E1192K	.	E	+	1	0	ZBTB38	142647491	0.071000	0.21146	0.009000	0.14445	0.039000	0.13416	1.550000	0.36223	2.579000	0.87056	0.655000	0.94253	GAA	-	NULL		0.343	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	protein_coding	OTTHUMT00000359329.2	G		-		141164801	1	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	SNP	0.046	A	A	141164801	G	A	141164801	3	1	69	1	0	0	0	0	1	0	0	0	17546	1175	41	2	3573	2	ZBTB38	3	141164801	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	96761818	141164801	56857629	12	3745											
ATP10D	57205	genome.wustl.edu	37	chr4	47563058	47563058	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagaattactacttgaatcTgccatgaggttggagaacaa	10	6	1	4			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr4:47563058T>A	ENST00000273859.3	+	14	2903	c.2634T>A	c.(2632-2634)tcT>tcA	p.S878S	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	878					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TACTTGAATCTGCCATGAGGT	0.383																																																	0								ENSG00000145246						172	161	165					4																	47563058		2203	4300	6503	ATP10D	SO:0001819	synonymous_variant	0			-	HGNC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2634T>A	4.37:g.47563058T>A		Somatic	0	143	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	119	37.50	A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S878	ENST00000273859.3	37	c.2634	CCDS3476.1	4																																																																																			-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.383	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	protein_coding	OTTHUMT00000216900.1	T	NM_020453	-		47563058	1	no_errors	ENST00000273859	ensembl	human	known	74_37	silent	SNP	1.000	A	A	47563058	T	A	47563058	2	1	69	1	0	0	0	0	0	0	0	1	1118	1567	55	5		5	ATP10D	4	47563058	Silent	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09		47563058	143591218	13	3746											
PCDHB15	56121	genome.wustl.edu	37	chr5	140626730	140626730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccctgcaggctttcgaGttccgcgtgggcgccacaga	15	13	0	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr5:140626730G>A	ENST00000231173.3	+	1	1584	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	528	Cadherin 5. {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(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTTTCGAGTTCCGCGTGG	0.672																																																	0								ENSG00000113248						62	72	68					5																	140626730		2203	4300	6503	PCDHB15	SO:0001819	synonymous_variant	0			-	HGNC	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1584G>A	5.37:g.140626730G>A		Somatic	0	349	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	219	243	47.30	Q8IUX5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E528	ENST00000231173.3	37	c.1584	CCDS4257.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.672	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	protein_coding	OTTHUMT00000251804.2	G	NM_018935	-		140626730	1	no_errors	ENST00000231173	ensembl	human	known	74_37	silent	SNP	0.735	A	A	140626730	G	A	140626730	2	1	69	1	0	0	0	0	0	0	0	1	11542	1020	36	2		2	PCDHB15	5	140626730	Silent	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		140626730	40288530	14	3747											
FOXC1	2296	genome.wustl.edu	37	chr6	1611233	1611233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcggtgaaggacaaggagGagaaggacaggctgcacctc	16	9	0	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr6:1611233G>A	ENST00000380874.2	+	1	553	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	185					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GGACAAGGAGGAGAAGGACAG	0.721																																					Pancreas(133;719 1821 3197 26645 35015)												0								ENSG00000054598						16	16	16					6																	1611233		2200	4299	6499	FOXC1	SO:0001583	missense	0			-	HGNC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.553G>A	6.37:g.1611233G>A	ENSP00000370256:p.Glu185Lys	Somatic	0	64	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	30	59.21	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E185K	ENST00000380874.2	37	c.553	CCDS4473.1	6	.	.	.	.	.	.	.	.	.	.	g	17.74	3.464853	0.63513	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.93019	-3.15	3.62	3.62	0.41486	.	0.351696	0.25037	U	0.033639	D	0.87649	0.6230	L	0.55213	1.73	0.58432	D	0.999999	P	0.40970	0.734	B	0.37731	0.257	D	0.88251	0.2916	10	0.46703	T	0.11	.	14.95	0.71064	0.0:0.0:1.0:0.0	.	185	Q12948	FOXC1_HUMAN	K	185	ENSP00000370256:E185K	ENSP00000370256:E185K	E	+	1	0	FOXC1	1556232	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.144000	0.71762	1.573000	0.49748	0.395000	0.25975	GAG	-	NULL		0.721	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	protein_coding	OTTHUMT00000043450.1	G		-		1611233	1	no_errors	ENST00000380874	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1611233	G	A	1611233	3	1	69	1	0	0	0	0	1	0	0	0	5996	1175	41	2	555	2	FOXC1	6	1611233	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		1611233	169503834	15	3748											
FNDC1	84624	genome.wustl.edu	37	chr6	159650887	159650887	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccggctctcaaaccatttggAgcaaagtccctcacctatcc	6	16	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr6:159650887A>T	ENST00000297267.9	+	10	1421	c.1221A>T	c.(1219-1221)ggA>ggT	p.G407G	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	407	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				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)		AACCATTTGGAGCAAAGTCCC	0.498																																																	0								ENSG00000164694						175	180	179					6																	159650887		1911	4127	6038	FNDC1	SO:0001819	synonymous_variant	0			-	HGNC	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.1221A>T	6.37:g.159650887A>T		Somatic	0	130	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	108	37.93	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G407	ENST00000297267.9	37	c.1221	CCDS47512.1	6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	protein_coding	OTTHUMT00000042897.3	A	NM_032532	-		159650887	1	no_errors	ENST00000297267	ensembl	human	known	74_37	silent	SNP	1.000	T	T	159650887	A	T	159650887	2	4	69	1	0	0	0	0	0	0	0	1	5970	291	11	5		5	FNDC1	6	159650887	Silent	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09	158039654	159650887	11464180	16	3749											
LRRC4	64101	genome.wustl.edu	37	chr7	127669285	127669285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaggcttgtactttcgcGttgtgtcctcaggcgagatc	12	10	1	1	rs564369603		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr7:127669285G>A	ENST00000249363.3	-	2	1666	c.1409C>T	c.(1408-1410)aCg>aTg	p.T470M	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	470	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)		GTACTTTCGCGTTGTGTCCTC	0.547																																																	0								ENSG00000128594						194	152	166					7																	127669285		2203	4300	6503	LRRC4	SO:0001583	missense	0			-	HGNC	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.1409C>T	7.37:g.127669285G>A	ENSP00000249363:p.Thr470Met	Somatic	0	54	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	31	55.71	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T470M	ENST00000249363.3	37	c.1409	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	G	6.644	0.487300	0.12641	.	.	ENSG00000128594	ENST00000249363	T	0.29397	1.57	4.68	3.8	0.43715	.	0.116273	0.32987	N	0.005416	T	0.16557	0.0398	N	0.12182	0.205	0.24394	N	0.994734	P	0.36110	0.537	B	0.33890	0.172	T	0.10706	-1.0618	10	0.49607	T	0.09	.	10.2112	0.43141	0.0966:0.0:0.9034:0.0	.	470	Q9HBW1	LRRC4_HUMAN	M	470	ENSP00000249363:T470M	ENSP00000249363:T470M	T	-	2	0	LRRC4	127456521	0.963000	0.33076	0.016000	0.15963	0.708000	0.40852	4.595000	0.61048	1.193000	0.43086	0.561000	0.74099	ACG	-	NULL		0.547	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	protein_coding	OTTHUMT00000349170.1	G	NM_022143	-		127669285	-1	no_errors	ENST00000249363	ensembl	human	known	74_37	missense	SNP	0.813	A	A	127669285	G	A	127669285	3	1	69	1	0	0	0	0	1	0	0	0	8999	1145	40	1	556	1	LRRC4	7	127669285	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		127669285	31469378	17	3750											
OR9A4	130075	genome.wustl.edu	37	chr7	141618923	141618923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgtccccgtgatgctttgggGattgctgctccctgggatgc	14	12	0	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr7:141618923G>T	ENST00000548136.1	+	1	307	c.248G>T	c.(247-249)gGa>gTa	p.G83V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATGCTTTGGGGATTGCTGCTC	0.517																																																	0								ENSG00000258083						112	114	113					7																	141618923		2203	4300	6503	OR9A4	SO:0001583	missense	0			-	HGNC		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.248G>T	7.37:g.141618923G>T	ENSP00000448789:p.Gly83Val	Somatic	0	137	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	121	39.20	B9EGV6|Q6IFI4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G83V	ENST00000548136.1	37	c.248	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251556	0.22880	.	.	ENSG00000258083	ENST00000548136	T	0.00882	5.58	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	L	0.37850	1.14	0.09310	N	0.999993	B	0.22800	0.075	B	0.23018	0.043	T	0.43442	-0.9391	9	0.87932	D	0	-3.9628	8.9047	0.35517	0.0:0.0:0.7774:0.2226	.	83	Q8NGU2	OR9A4_HUMAN	V	83	ENSP00000448789:G83V	ENSP00000386148:G83V	G	+	2	0	OR9A4	141265392	0.000000	0.05858	0.870000	0.34147	0.130000	0.20726	-0.288000	0.08377	2.121000	0.65114	0.655000	0.94253	GGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.517	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	protein_coding	OTTHUMT00000350806.3	G	NM_001001656	-		141618923	1	no_errors	ENST00000548136	ensembl	human	known	74_37	missense	SNP	0.000	T	T	141618923	G	T	141618923	3	4	69	1	0	0	0	0	1	0	0	0	11251	1174	41	3	250	3	OR9A4	7	141618923	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	13949638	141618923	17519740	18	3751											
GGH	8836	genome.wustl.edu	37	chr8	63938818	63938818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcaaatccaaggcatGtgccccacacaggaaaatag	8	12	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr8:63938818G>A	ENST00000260118.6	-	5	800	c.398C>T	c.(397-399)aCa>aTa	p.T133I	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	133	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TCCAAGGCATGTGCCCCACAC	0.393																																																	0								ENSG00000137563						113	100	105					8																	63938818		2203	4300	6503	GGH	SO:0001583	missense	0			-	HGNC	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.398C>T	8.37:g.63938818G>A	ENSP00000260118:p.Thr133Ile	Somatic	0	61	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	43	41.89		Missense_Mutation	SNP							pfam_Peptidase_C26,pfam_GATASE	p.T133I	ENST00000260118.6	37	c.398	CCDS6177.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284925	0.80803	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.21361	2.01	6.02	5.15	0.70609	.	0.084915	0.85682	D	0.000000	T	0.39733	0.1089	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.10683	-1.0619	9	.	.	.	-16.6995	14.4273	0.67225	0.0717:0.0:0.9283:0.0	.	133	Q92820	GGH_HUMAN	I	133;94	ENSP00000260118:T133I	.	T	-	2	0	GGH	64101372	1.000000	0.71417	0.945000	0.38365	0.967000	0.64934	6.700000	0.74619	1.561000	0.49584	0.655000	0.94253	ACA	-	pfam_Peptidase_C26,pfam_GATASE		0.393	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	protein_coding	OTTHUMT00000378453.1	G		-		63938818	-1	no_errors	ENST00000260118	ensembl	human	known	74_37	missense	SNP	0.999	A	A	63938818	G	A	63938818	3	1	69	1	0	0	0	0	1	0	0	0	6359	1377	48	2	578	2	GGH	8	63938818	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		63938818	82425204	19	3752											
TEK	7010	genome.wustl.edu	37	chr9	27158026	27158026	+	Frame_Shift_Del	DEL	A	A	-													atgtgaccagagaatgggctAaaaaagttgtttggaagaga							TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr9:27158026delA	ENST00000380036.4	+	2	692	c.250delA	c.(250-252)aaafs	p.K85fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.K85fs|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	85	Ig-like C2-type 1.				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)			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)	AGAATGGGCTAAAAAAGTTGT	0.468																																																	0								ENSG00000120156						98	99	99					9																	27158026		2203	4300	6503	TEK	SO:0001589	frameshift_variant	0				HGNC	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.250delA	9.37:g.27158026delA	ENSP00000369375:p.Lys85fs	Somatic	0	147	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	136	20.47	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V86fs	ENST00000380036.4	37	c.250	CCDS6519.1	9																																																																																			-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N		0.468	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	protein_coding	OTTHUMT00000051965.3	A				27158026	1	no_errors	ENST00000380036	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	27158026	A	-	27158026	7	5	69	1	0	1	0	1	0	0	0	0	15758	363	13	0	256	0	TEK	9	27158026	Frame_Shift_Del	DEL	A	TCGA-DX-A6BA-01A-11D-A307-09		27158026	114055405	20	3753											
C9orf11	54586	genome.wustl.edu	37	chr9	27294315	27294315	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctttcacttcttaccGttttttagagcaaaattcag	7	9	3	1	rs149742821		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr9:27294315G>A	ENST00000380032.3	-	3	371	c.288C>T	c.(286-288)aaC>aaT	p.N96N	EQTN_ENST00000380031.1_Splice_Site_p.N96N|EQTN_ENST00000537675.1_Splice_Site_p.N96N|EQTN_ENST00000484994.1_5'UTR	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	96					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.N96N(1)									ACTTCTTACCGTTTTTTAGAG	0.393																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000120160	G	,	0,4404		0,0,2202	149	123	132		288,288	1.7	0.5	9	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	C9orf11	NM_001161585.1,NM_020641.2	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	96/266,96/295	27294315	1,13003	2202	4300	6502	EQTN	SO:0001630	splice_region_variant	0			-	HGNC	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.289+1C>T	9.37:g.27294315G>A		Somatic	0	190	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	166	23.39	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP							NULL	p.N96	ENST00000380032.3	37	c.288	CCDS35001.1	9																																																																																			-	NULL		0.393	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EQTN	protein_coding	OTTHUMT00000055499.1	G	NM_020641	rs149742821	Silent	27294315	-1	no_errors	ENST00000380032	ensembl	human	known	74_37	silent	SNP	0.558	A	A	27294315	G	A	27294315	5	1	69	1	0	0	0	0	0	0	1	0	2450	1159	40	1	620	1	C9orf11	9	27294315	Splice_Site	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	136289	27294315	113919116	21	3754											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88924912	88924912	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcggaataagcagataaAagccttgtgttatgaagggc	13	5	0	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr9:88924912A>G	ENST00000375963.3	-	19	3571	c.3399T>C	c.(3397-3399)ctT>ctC	p.L1133L	ZCCHC6_ENST00000375960.2_Silent_p.L897L|ZCCHC6_ENST00000277141.6_Silent_p.L422L|ZCCHC6_ENST00000375961.2_Silent_p.L1133L|ZCCHC6_ENST00000375957.1_Silent_p.L71L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1133					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAGCAGATAAAAGCCTTGTGT	0.343																																																	0								ENSG00000083223						101	101	101					9																	88924912		2203	4300	6503	ZCCHC6	SO:0001819	synonymous_variant	0			-	HGNC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3399T>C	9.37:g.88924912A>G		Somatic	0	38	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	40	48.05	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP							pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L1133	ENST00000375963.3	37	c.3399	CCDS35057.1	9																																																																																			-	NULL		0.343	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	protein_coding	OTTHUMT00000052918.1	A	NM_024617	-		88924912	-1	no_errors	ENST00000375963	ensembl	human	known	74_37	silent	SNP	0.956	G	G	88924912	A	G	88924912	2	3	69	1	0	0	0	0	0	0	0	1	17599	1	1	5		5	ZCCHC6	9	88924912	Silent	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09	61630597	88924912	52288519	22	3755											
ABCA2	20	genome.wustl.edu	37	chr9	139910007	139910007	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgcggtccccaagcaggtCagcctcatccatgtggtggg	13	12	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr9:139910007C>T	ENST00000371605.3	-	23	3700	c.3553G>A	c.(3553-3555)Gac>Aac	p.D1185N	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.D1186N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D1186N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1185	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCAAGCAGGTCAGCCTCATCC	0.667																																																	0								ENSG00000107331						40	44	42					9																	139910007		2197	4293	6490	ABCA2	SO:0001583	missense	0			-	HGNC	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3553G>A	9.37:g.139910007C>T	ENSP00000360666:p.Asp1185Asn	Somatic	0	126	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	107	85	55.73	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1186N	ENST00000371605.3	37	c.3556		9	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722883	0.89298	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.97941	-4.62;-4.62;-4.62	4.46	4.46	0.54185	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.113884	0.56097	U	0.000027	D	0.98400	0.9468	M	0.81112	2.525	0.51767	D	0.999931	D;D	0.67145	0.986;0.996	P;P	0.60541	0.742;0.876	D	0.99624	1.0984	10	0.87932	D	0	.	16.704	0.85367	0.0:1.0:0.0:0.0	.	1185;1216	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	N	1186;1185;1216;1186	ENSP00000265662:D1186N;ENSP00000360666:D1185N;ENSP00000344155:D1186N	ENSP00000265662:D1186N	D	-	1	0	ABCA2	139029828	1.000000	0.71417	0.967000	0.41034	0.862000	0.49288	7.632000	0.83247	2.034000	0.60081	0.313000	0.20887	GAC	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.667	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	protein_coding		C	NM_001606	-		139910007	-1	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	SNP	0.997	T	T	139910007	C	T	139910007	3	4	69	1	0	0	0	0	1	0	0	0	32	826	29	2	3858	2	ABCA2	9	139910007	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	50985095	139910007	1303424	23	3756											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37488707	37488707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgaagaaaattcttgGgattctgaggtactatgtgt	12	3	2	3			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr10:37488707G>C	ENST00000602533.1	+	30	2700	c.2601G>C	c.(2599-2601)tgG>tgC	p.W867C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.W867C|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.W986C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	923					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						AAAATTCTTGGGATTCTGAGG	0.299																																																	0								ENSG00000148513						86	77	80					10																	37488707		1786	4057	5843	ANKRD30A	SO:0001583	missense	0			-	HGNC	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	ENST00000602533.1:c.2601G>C	10.37:g.37488707G>C	ENSP00000473551:p.Trp867Cys	Somatic	0	338	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	143	26	84.12	Q5W025	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.W867C	ENST00000602533.1	37	c.2601		10	.	.	.	.	.	.	.	.	.	.	g	4.263	0.047926	0.08243	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05855	3.38;3.38	0.868	0.868	0.19090	.	.	.	.	.	T	0.02970	0.0088	N	0.22421	0.69	0.09310	N	1	P	0.50156	0.932	B	0.31337	0.128	T	0.45011	-0.9290	9	0.37606	T	0.19	.	5.1189	0.14851	0.0:0.0:1.0:0.0	.	923	Q9BXX3	AN30A_HUMAN	C	867;986	ENSP00000354432:W867C;ENSP00000363792:W986C	ENSP00000354432:W867C	W	+	3	0	ANKRD30A	37528713	0.992000	0.36948	0.003000	0.11579	0.002000	0.02628	1.526000	0.35964	0.775000	0.33450	0.162000	0.16502	TGG	-	NULL		0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	protein_coding	OTTHUMT00000047588.2	G	NM_052997	-		37488707	1	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	SNP	0.004	C	C	37488707	G	C	37488707	3	2	69	1	0	0	0	0	1	0	0	0	658	1241	43	4	2719	4	ANKRD30A	10	37488707	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		37488707	98046040	24	3757											
PCDH15	65217	genome.wustl.edu	37	chr10	55955488	55955488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actattcttaaaggtgaagtCaaattgagactgtccgaaat	8	6	2	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr10:55955488C>G	ENST00000320301.6	-	11	1654	c.1260G>C	c.(1258-1260)ttG>ttC	p.L420F	PCDH15_ENST00000373965.2_Missense_Mutation_p.L420F|PCDH15_ENST00000395430.1_Missense_Mutation_p.L420F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L398F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L420F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L398F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L24F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L420F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L420F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L383F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L420F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L425F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L420F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L420F|PCDH15_ENST00000395440.1_Missense_Mutation_p.L420F|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				AAGGTGAAGTCAAATTGAGAC	0.363										HNSCC(58;0.16)																																							0								ENSG00000150275						124	116	119					10																	55955488		2203	4300	6503	PCDH15	SO:0001583	missense	0			-	HGNC	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.1260G>C	10.37:g.55955488C>G	ENSP00000322604:p.Leu420Phe	Somatic	0	80	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	9	82.00	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L420F	ENST00000320301.6	37	c.1260	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330140	0.24167	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.45;0.7;0.7;0.39;0.42;0.7;0.58;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.07	4.12	0.48240	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.66626	0.2808	M	0.65498	2.005	0.27584	N	0.949484	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;0.999;1.0;1.0;0.985;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.998;1.0;0.998;0.999;1.0;0.996;0.993;0.998;1.0;0.943;1.0;0.995	T	0.56601	-0.7952	9	0.45353	T	0.12	.	7.3435	0.26650	0.0:0.771:0.0:0.229	.	398;420;420;425;420;383;420;420;420;420;420;425;420;398;420	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	F	420;425;420;420;24;420;420;420;383;420;398;398;420;420;425;420;420	ENSP00000363076:L420F;ENSP00000410304:L425F;ENSP00000378826:L420F;ENSP00000386693:L24F;ENSP00000378832:L420F;ENSP00000378833:L420F;ENSP00000378827:L420F;ENSP00000378820:L383F;ENSP00000354950:L420F;ENSP00000378821:L398F;ENSP00000363068:L398F;ENSP00000322604:L420F;ENSP00000378818:L420F;ENSP00000412628:L420F;ENSP00000363066:L420F	ENSP00000322604:L420F	L	-	3	2	PCDH15	55625494	0.999000	0.42202	0.971000	0.41717	0.094000	0.18550	0.584000	0.23864	0.980000	0.38523	0.591000	0.81541	TTG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	C	NM_033056	-		55955488	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	SNP	1.000	G	G	55955488	C	G	55955488	3	3	69	1	0	0	0	0	1	0	0	0	11513	825	29	4	6343	4	PCDH15	10	55955488	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	18466781	55955488	79579259	25	3758											
KLRB1	3820	genome.wustl.edu	37	chr12	9754110	9754110	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacttacctgaaacactcaaCccagtaacaaccaagacaag	4	14	1	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr12:9754110C>G	ENST00000229402.3	-	2	217	c.171G>C	c.(169-171)ggG>ggC	p.G57G		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	57					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						AAACACTCAACCCAGTAACAA	0.438																																																	0								ENSG00000111796						147	122	130					12																	9754110		2203	4300	6503	KLRB1	SO:0001819	synonymous_variant	0			-	HGNC	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"Killer cell lectin-like receptors", "CD molecules", "C-type lectin domain containing"	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.171G>C	12.37:g.9754110C>G		Somatic	0	42	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	25	55.36	Q24K24	Silent	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G57	ENST00000229402.3	37	c.171	CCDS8601.1	12																																																																																			-	superfamily_C-type_lectin_fold		0.438	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRB1	protein_coding	OTTHUMT00000400280.1	C	NM_002258	-		9754110	-1	no_errors	ENST00000229402	ensembl	human	known	74_37	silent	SNP	0.339	G	G	9754110	C	G	9754110	2	3	69	1	0	0	0	0	0	0	0	1	8416	494	18	4		4	KLRB1	12	9754110	Silent	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09		9754110	124097785	26	3759											
CAPS2	84698	genome.wustl.edu	37	chr12	75676046	75676046	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attacctgaaattacttgagAatgcttctttgcacagtaac	6	8	1	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr12:75676046A>T	ENST00000409445.3	-	17	1850	c.1654T>A	c.(1654-1656)Tct>Act	p.S552T	CAPS2_ENST00000393284.3_Missense_Mutation_p.S320T|CAPS2_ENST00000442339.2_Missense_Mutation_p.S142T|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409799.1_Missense_Mutation_p.S470T|CAPS2_ENST00000409004.1_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	552	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATTACTTGAGAATGCTTCTTT	0.279																																																	0								ENSG00000180881						101	106	105					12																	75676046		2203	4300	6503	CAPS2	SO:0001583	missense	0			-	HGNC	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1654T>A	12.37:g.75676046A>T	ENSP00000386959:p.Ser552Thr	Somatic	0	123	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	31	63.95	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.S552T	ENST00000409445.3	37	c.1654	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935079	0.52866	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.23147	1.94;1.92;1.97;1.97	5.96	5.04	0.67666	.	0.250282	0.35067	N	0.003473	T	0.16171	0.0389	N	0.08118	0	0.26352	N	0.977196	B;B;B;B;B	0.27679	0.001;0.003;0.185;0.027;0.027	B;B;B;B;B	0.32211	0.007;0.012;0.142;0.032;0.032	T	0.20472	-1.0274	10	0.56958	D	0.05	-7.4279	12.7069	0.57065	0.082:0.0:0.918:0.0	.	142;320;288;552;470	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	T	470;552;288;320;142	ENSP00000386977:S470T;ENSP00000386959:S552T;ENSP00000376963:S320T;ENSP00000389633:S142T	ENSP00000367975:S288T	S	-	1	0	CAPS2	73962313	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.955000	0.49121	1.449000	0.47699	0.523000	0.50628	TCT	-	NULL		0.279	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	protein_coding	OTTHUMT00000327880.2	A		-		75676046	-1	no_errors	ENST00000409445	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75676046	A	T	75676046	3	4	69	1	0	0	0	0	1	0	0	0	2640	246	9	5	27	5	CAPS2	12	75676046	Missense_Mutation	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09	65921936	75676046	58175849	27	3760											
ANO4	121601	genome.wustl.edu	37	chr12	101436131	101436131	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtactttggagagaagAttgggttatattttgcctgg	15	4	0	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr12:101436131A>T	ENST00000392977.3	+	12	1249	c.1039A>T	c.(1039-1041)Att>Ttt	p.I347F	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.I312F			Q32M45	ANO4_HUMAN	anoctamin 4	347					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGAGAGAAGATTGGGTTATA	0.438										HNSCC(74;0.22)																																							0								ENSG00000151572						155	136	142					12																	101436131		2203	4300	6503	ANO4	SO:0001583	missense	0			-	HGNC	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1039A>T	12.37:g.101436131A>T	ENSP00000376703:p.Ile347Phe	Somatic	0	243	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	174	28.98	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP							pfam_Anoctamin	p.I347F	ENST00000392977.3	37	c.1039		12	.	.	.	.	.	.	.	.	.	.	A	32	5.191789	0.94923	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.73363	-0.74;-0.74	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.997	D	0.90345	0.4362	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	347;312	Q32M45;Q32M45-2	ANO4_HUMAN;.	F	312;347	ENSP00000376705:I312F;ENSP00000376703:I347F	ENSP00000376703:I347F	I	+	1	0	ANO4	99960262	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATT	-	pfam_Anoctamin		0.438	ANO4-002	KNOWN	basic	protein_coding	ANO4	protein_coding	OTTHUMT00000409295.1	A	NM_178826	-		101436131	1	no_errors	ENST00000392977	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101436131	A	T	101436131	3	4	69	1	0	0	0	0	1	0	0	0	699	333	12	5	972	5	ANO4	12	101436131	Missense_Mutation	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09	25760085	101436131	32415764	28	3761											
SPTB	6710	genome.wustl.edu	37	chr14	65253407	65253407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctcagcctctgggagGgattcgggcatgtcctcaga	14	11	3	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr14:65253407G>A	ENST00000389721.5	-	15	3308	c.3276C>T	c.(3274-3276)tcC>tcT	p.S1092S	SPTB_ENST00000556626.1_Silent_p.S1092S|SPTB_ENST00000542895.1_Silent_p.S1092S|SPTB_ENST00000389720.3_Silent_p.S1092S|SPTB_ENST00000389722.3_Silent_p.S1092S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1092					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)		CCTCTGGGAGGGATTCGGGCA	0.587																																																	0								ENSG00000070182						63	62	62					14																	65253407		2203	4300	6503	SPTB	SO:0001819	synonymous_variant	0			-	HGNC		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.3276C>T	14.37:g.65253407G>A		Somatic	0	60	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	40	48.05	Q15510|Q15519	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S1092	ENST00000389721.5	37	c.3276	CCDS32100.1	14																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	G		-		65253407	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	SNP	0.991	A	A	65253407	G	A	65253407	2	1	69	1	0	0	0	0	0	0	0	1	15125	1219	43	2		2	SPTB	14	65253407	Silent	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		65253407	42096133	29	3762											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84652065	84652065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccacatatacatggaccAaggatggaaccttgttacag	10	9	0	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr15:84652065A>C	ENST00000286744.5	+	21	3909	c.3685A>C	c.(3685-3687)Aag>Cag	p.K1229Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.K1229Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1229	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACATGGACCAAGGATGGAAC	0.373																																																	0								ENSG00000156218						104	112	109					15																	84652065		2203	4300	6503	ADAMTSL3	SO:0001583	missense	0			-	HGNC	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3685A>C	15.37:g.84652065A>C	ENSP00000286744:p.Lys1229Gln	Somatic	0	54	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	63	55.32	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.K1229Q	ENST00000286744.5	37	c.3685	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768745	0.69878	.	.	ENSG00000156218	ENST00000286744	T	0.18338	2.22	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.184072	0.26442	N	0.024348	T	0.51958	0.1705	M	0.92122	3.275	0.48901	D	0.999729	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.64782	-0.6326	10	0.72032	D	0.01	.	15.2359	0.73430	1.0:0.0:0.0:0.0	.	1229;1229	P82987-2;P82987	.;ATL3_HUMAN	Q	1229	ENSP00000286744:K1229Q	ENSP00000286744:K1229Q	K	+	1	0	ADAMTSL3	82443069	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	6.641000	0.74324	2.045000	0.60652	0.455000	0.32223	AAG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.373	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	A	NM_207517	-		84652065	1	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	SNP	1.000	C	C	84652065	A	C	84652065	3	2	69	1	0	0	0	0	1	0	0	0	276	131	5	5	3763	5	ADAMTSL3	15	84652065	Missense_Mutation	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09		84652065	17879327	30	3763											
KREMEN2	79412	genome.wustl.edu	37	chr16	3016141	3016141	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctcccacccgcagTaacccagacggtgacgtgca	8	19	0	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr16:3016141T>C	ENST00000303746.5	+	3	847	c.270T>C	c.(268-270)cgT>cgC	p.R90R	KREMEN2_ENST00000575769.1_Splice_Site_p.R90R|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000571007.1_Splice_Site_p.R90R|KREMEN2_ENST00000572045.1_Splice_Site_p.R90R|KREMEN2_ENST00000575885.1_Splice_Site_p.R90R|KREMEN2_ENST00000319500.6_Splice_Site_p.R90R			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	90	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCACCCGCAGTAACCCAGACG	0.632																																																	0								ENSG00000131650						56	54	55					16																	3016141		2198	4299	6497	KREMEN2	SO:0001630	splice_region_variant	0			-	HGNC	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.270-1T>C	16.37:g.3016141T>C		Somatic	0	60	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	60	22.08	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Silent	SNP							pirsf_Kremen,pfam_WSC_carb-bd,pfam_Kringle,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.R90	ENST00000303746.5	37	c.270	CCDS10483.1	16																																																																																			-	pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.632	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KREMEN2	protein_coding	OTTHUMT00000250964.2	T	NM_145347	-	Silent	3016141	1	no_errors	ENST00000303746	ensembl	human	known	74_37	silent	SNP	1.000	C	C	3016141	T	C	3016141	5	2	69	1	0	0	0	0	0	0	1	0	8445	1652	57	5	280	5	KREMEN2	16	3016141	Splice_Site	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09		3016141	87338612	31	3764											
KCNG4	93107	genome.wustl.edu	37	chr16	84270722	84270722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccgccaggaagctcaCgatcaccccgaaggcgctgg	13	17	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr16:84270722C>T	ENST00000308251.4	-	2	438	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	KCNG4_ENST00000568181.1_Missense_Mutation_p.V124M	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	124					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGGAAGCTCACGATCACCCCG	0.632																																																	0								ENSG00000168418						50	53	52					16																	84270722		2200	4300	6500	KCNG4	SO:0001583	missense	0			-	HGNC	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.370G>A	16.37:g.84270722C>T	ENSP00000312129:p.Val124Met	Somatic	0	119	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	11	87.78	Q96H24	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.V124M	ENST00000308251.4	37	c.370	CCDS10945.1	16	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511800	0.44660	.	.	ENSG00000168418	ENST00000308251	T	0.76316	-1.01	5.12	5.12	0.69794	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.196102	0.44285	D	0.000461	T	0.64000	0.2559	N	0.12663	0.25	0.34433	D	0.698795	P;P	0.47034	0.638;0.889	B;B	0.39876	0.312;0.236	T	0.76440	-0.2958	10	0.52906	T	0.07	.	17.5478	0.87867	0.0:1.0:0.0:0.0	.	124;124	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	M	124	ENSP00000312129:V124M	ENSP00000312129:V124M	V	-	1	0	KCNG4	82828223	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	2.297000	0.43593	2.374000	0.81015	0.549000	0.68633	GTG	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv3		0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	protein_coding	OTTHUMT00000269079.2	C	NM_172347	-		84270722	-1	no_errors	ENST00000308251	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84270722	C	T	84270722	3	4	69	1	0	0	0	0	1	0	0	0	8032	536	19	1	1195	1	KCNG4	16	84270722	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	81254581	84270722	6084031	32	3765											
ALOX15	246	genome.wustl.edu	37	chr17	4541604	4541604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcgcctcagcaccaCggggttggcgccattaagaa	13	12	1	2	rs3892408		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr17:4541604C>T	ENST00000570836.1	-	7	811	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	ALOX15_ENST00000545513.1_Missense_Mutation_p.V261M|ALOX15_ENST00000293761.3_Missense_Mutation_p.V239M|ALOX15_ENST00000574640.1_Missense_Mutation_p.V200M			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	239	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		V -> M (in dbSNP:rs3892408).		apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CTCAGCACCACGGGGTTGGCG	0.592																																																	0								ENSG00000161905						1	1	1					17																	4541604		903	1912	2815	ALOX15	SO:0001583	missense	0			-	HGNC	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.715G>A	17.37:g.4541604C>T	ENSP00000458832:p.Val239Met	Somatic	0	30	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.V261M	ENST00000570836.1	37	c.781	CCDS11049.1	17	317	0.14514652014652016	95	0.19308943089430894	61	0.1685082872928177	74	0.12937062937062938	87	0.11477572559366754	C	0.005	-2.196159	0.00299	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.07216	3.21;3.21	4.04	2.95	0.34219	Lipoxygenase, C-terminal (3);	0.316889	0.27469	N	0.019226	T	0.00012	0.0000	N	0.02266	-0.62	0.19775	N	0.99995	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.003;0.002	T	0.48080	-0.9066	10	0.06236	T	0.91	-15.1749	4.1582	0.10272	0.0:0.1104:0.2079:0.6817	rs9890466;rs12937345;rs62061508	261;200;239	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	M	239;261	ENSP00000293761:V239M;ENSP00000439855:V261M	ENSP00000293761:V239M	V	-	1	0	ALOX15	4488353	0.950000	0.32346	0.998000	0.56505	0.180000	0.23129	0.313000	0.19415	0.629000	0.30376	-0.358000	0.07595	GTG	-	pfam_LipOase_C,superfamily_LipOase_C		0.592	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	protein_coding	OTTHUMT00000207487.2	C		rs3892408		4541604	-1	no_errors	ENST00000545513	ensembl	human	known	74_37	missense	SNP	0.997	T	T	4541604	C	T	4541604	3	4	69	1	0	0	0	0	1	0	0	0	538	536	19	1	1309	1	ALOX15	17	4541604	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09		4541604	76653606	33	3766											
TP53	7157	genome.wustl.edu	37	chr17	7578290	7578290	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgaggaggggccagacCtaagagcaatcagtgaggaa	15	7	1	4			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S		ENSG00000141510						82	74	76					17																	7578290		2203	4300	6503	TP53	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;	-	HGNC	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.560-1G>A	17.37:g.7578290C>T		Somatic	0	93	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	14	77.27	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	Splice_Site	SNP							-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	-	-		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578290	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	7578290	C	T	7578290	5	4	69	1	0	0	0	0	0	0	1	0	16388	695	24	2	735	2	TP53	17	7578290	Splice_Site	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	3036686	7578290	73616920	34	3767											
NCOR1	9611	genome.wustl.edu	37	chr17	16004983	16004983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtactgggtgcagtttcCgtggtgggctcaagctcaac	14	9	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr17:16004983C>T	ENST00000268712.3	-	20	2528	c.2271G>A	c.(2269-2271)acG>acA	p.T757T	NCOR1_ENST00000583226.1_5'Flank|NCOR1_ENST00000395851.1_Silent_p.T773T|RNU6-314P_ENST00000516574.1_RNA|NCOR1_ENST00000395848.1_Silent_p.T664T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	757					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGCAGTTTCCGTGGTGGGCT	0.517																																																	0								ENSG00000141027						150	139	143					17																	16004983		2203	4300	6503	NCOR1	SO:0001819	synonymous_variant	0			-	HGNC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2271G>A	17.37:g.16004983C>T		Somatic	0	141	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	192	29.15	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T757	ENST00000268712.3	37	c.2271	CCDS11175.1	17																																																																																			-	NULL		0.517	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	protein_coding	OTTHUMT00000131751.5	C	NM_006311	-		16004983	-1	no_errors	ENST00000268712	ensembl	human	known	74_37	silent	SNP	0.000	T	T	16004983	C	T	16004983	2	4	69	1	0	0	0	0	0	0	0	1	10237	639	23	1		1	NCOR1	17	16004983	Silent	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	8426693	16004983	65190227	35	3768											
TBC1D29	26083	genome.wustl.edu	37	chr17	28887198	28887198	+	Frame_Shift_Del	DEL	G	G	-													ttctccgggtgctgaatgatGgggtaaggaggcacagggag							TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr17:28887198delG	ENST00000580161.1	+	3	2573	c.76delG	c.(76-78)gggfs	p.G26fs	TBC1D29_ENST00000579181.1_Frame_Shift_Del_p.G26fs|TBC1D29_ENST00000584297.1_Frame_Shift_Del_p.G26fs|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	26	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GCTGAATGATGGGGTAAGGAG	0.627																																																	0								ENSG00000266733						41	38	39					17																	28887198		2203	4300	6503	TBC1D29	SO:0001589	frameshift_variant	0				HGNC	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.76delG	17.37:g.28887198delG	ENSP00000462799:p.Gly26fs	Somatic	0	160	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	223	9.35		Frame_Shift_Del	DEL							superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.I27fs	ENST00000580161.1	37	c.76	CCDS32606.1	17																																																																																			-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	protein_coding	OTTHUMT00000443632.1	G	NM_015594			28887198	1	no_errors	ENST00000579181	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	28887198	G	-	28887198	7	5	69	1	0	1	0	1	0	0	0	0	15625	1348	47	0	82	0	TBC1D29	17	28887198	Frame_Shift_Del	DEL	G	TCGA-DX-A6BA-01A-11D-A307-09	12882215	28887198	52308012	36	3769											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47121387	47121387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaggcagtgggcgccaTcatcggcaagaaggggcagc	16	13	1	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr17:47121387T>C	ENST00000290341.3	+	11	1593	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I281T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	420	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGGCGCCATCATCGGCAAG	0.602																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0								ENSG00000159217						106	95	98					17																	47121387		2203	4300	6503	IGF2BP1	SO:0001583	missense	0			-	HGNC	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1259T>C	17.37:g.47121387T>C	ENSP00000290341:p.Ile420Thr	Somatic	0	110	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	68	28.42	C9JT33	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.I420T	ENST00000290341.3	37	c.1259	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	T	34	5.321683	0.95682	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.42900	0.96;0.96	6.17	6.17	0.99709	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.225856	0.44688	D	0.000430	T	0.72851	0.3512	M	0.94101	3.495	0.58432	D	0.999998	P;D	0.53885	0.941;0.963	P;D	0.65773	0.703;0.938	T	0.80238	-0.1465	10	0.87932	D	0	-22.3333	15.8048	0.78491	0.0:0.0:0.0:1.0	.	281;420	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	420;281	ENSP00000290341:I420T;ENSP00000389135:I281T	ENSP00000290341:I420T	I	+	2	0	IGF2BP1	44476386	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.013000	0.88655	2.371000	0.80710	0.533000	0.62120	ATC	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.602	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	T	NM_006546	-		47121387	1	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	SNP	1.000	C	C	47121387	T	C	47121387	3	2	69	1	0	0	0	0	1	0	0	0	7575	1435	50	5	1301	5	IGF2BP1	17	47121387	Missense_Mutation	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09	18234189	47121387	34073823	37	3770											
ABCA5	23461	genome.wustl.edu	37	chr17	67266815	67266815	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catttaaatgataaagatagTagttactaatgatattcact	5	4	1	3			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr17:67266815T>A	ENST00000392676.3	-	22	3033	c.2969A>T	c.(2968-2970)tAc>tTc	p.Y990F	ABCA5_ENST00000588877.1_Missense_Mutation_p.Y990F|ABCA5_ENST00000392677.2_Missense_Mutation_p.Y991F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	990					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATAAAGATAGTAGTTACTAAT	0.303																																																	0								ENSG00000154265						97	110	106					17																	67266815		2203	4271	6474	ABCA5	SO:0001583	missense	0			-	HGNC	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2969A>T	17.37:g.67266815T>A	ENSP00000376443:p.Tyr990Phe	Somatic	0	123	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	78	22.00	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y991F	ENST00000392676.3	37	c.2972	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853786	0.51270	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.83250	-1.7;-1.7	5.45	4.37	0.52481	.	0.338236	0.25558	N	0.029843	T	0.71829	0.3386	L	0.44542	1.39	0.23946	N	0.996384	B	0.26147	0.143	B	0.28553	0.091	T	0.56768	-0.7924	9	.	.	.	.	1.8664	0.03199	0.1423:0.0953:0.2211:0.5412	.	990	Q8WWZ7	ABCA5_HUMAN	F	991;990	ENSP00000376444:Y991F;ENSP00000376443:Y990F	.	Y	-	2	0	ABCA5	64778410	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.218000	0.42889	2.062000	0.61559	0.482000	0.46254	TAC	-	NULL		0.303	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	protein_coding	OTTHUMT00000450654.1	T	NM_018672	-		67266815	-1	no_errors	ENST00000392677	ensembl	human	known	74_37	missense	SNP	0.935	A	A	67266815	T	A	67266815	3	1	69	1	0	0	0	0	1	0	0	0	35	1638	57	5	2031	5	ABCA5	17	67266815	Missense_Mutation	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09	20145428	67266815	13928395	38	3771											
MOCOS	55034	genome.wustl.edu	37	chr18	33828939	33828939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtgaacggactcagattcGccaaagcagggtctgtgctg	13	9	2	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr18:33828939G>T	ENST00000261326.5	+	10	2036	c.2015G>T	c.(2014-2016)cGc>cTc	p.R672L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACTCAGATTCGCCAAAGCAGG	0.438																																																	0								ENSG00000075643						87	83	84					18																	33828939		2203	4300	6503	MOCOS	SO:0001583	missense	0			-	HGNC	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2015G>T	18.37:g.33828939G>T	ENSP00000261326:p.Arg672Leu	Somatic	0	47	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP							pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom	p.R672L	ENST00000261326.5	37	c.2015	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321097	0.23994	.	.	ENSG00000075643	ENST00000261326	T	0.30981	1.51	5.28	2.5	0.30297	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.278863	0.41712	D	0.000832	T	0.13670	0.0331	N	0.13299	0.325	0.22112	N	0.999353	B	0.12013	0.005	B	0.18871	0.023	T	0.31668	-0.9935	10	0.10636	T	0.68	-4.9893	5.5386	0.17026	0.1792:0.163:0.6578:0.0	.	672	Q96EN8	MOCOS_HUMAN	L	672	ENSP00000261326:R672L	ENSP00000261326:R672L	R	+	2	0	MOCOS	32082937	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.248000	0.58760	0.217000	0.20800	0.561000	0.74099	CGC	-	pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom		0.438	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	protein_coding	OTTHUMT00000255801.1	G		-		33828939	1	no_errors	ENST00000261326	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33828939	G	T	33828939	3	4	69	1	0	0	0	0	1	0	0	0	9691	1087	38	3	2053	3	MOCOS	18	33828939	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		33828939	44248309	39	3772											
SALL3	27164	genome.wustl.edu	37	chr18	76755241	76755241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccgctgcccgcgggcGtccaggtccccgccgggcct	14	21	0	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr18:76755241G>A	ENST00000537592.2	+	2	3250	c.3250G>A	c.(3250-3252)Gtc>Atc	p.V1084I	SALL3_ENST00000536229.3_Missense_Mutation_p.V879I|SALL3_ENST00000575389.2_Missense_Mutation_p.V1012I	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1084					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCGCGGGCGTCCAGGTCCC	0.711																																																	0								ENSG00000256463						15	16	16					18																	76755241		2189	4286	6475	SALL3	SO:0001583	missense	0			-	HGNC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3250G>A	18.37:g.76755241G>A	ENSP00000441823:p.Val1084Ile	Somatic	0	29	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	2	88.89	Q9UGH1	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1084I	ENST00000537592.2	37	c.3250	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	0.147	-1.095505	0.01858	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09538	2.97	4.95	-2.74	0.05932	.	0.369779	0.21346	N	0.076050	T	0.02610	0.0079	N	0.02539	-0.55	0.20307	N	0.999918	B;B	0.18863	0.031;0.004	B;B	0.14023	0.01;0.001	T	0.43015	-0.9417	10	0.06891	T	0.86	-37.2201	6.9602	0.24593	0.6465:0.1398:0.2137:0.0	.	744;1084	F5GXY4;Q9BXA9	.;SALL3_HUMAN	I	1084;1012;744	ENSP00000441823:V1084I	ENSP00000299466:V1084I	V	+	1	0	SALL3	74856229	0.730000	0.28100	0.000000	0.03702	0.009000	0.06853	1.406000	0.34646	-0.474000	0.06862	-1.020000	0.02445	GTC	-	NULL		0.711	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	G	NM_171999	-		76755241	1	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	SNP	0.054	A	A	76755241	G	A	76755241	3	1	69	1	0	0	0	0	1	0	0	0	13820	1145	40	1	3256	1	SALL3	18	76755241	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	42926302	76755241	1322007	40	3773											
C3	718	genome.wustl.edu	37	chr19	6682024	6682024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatacttggagatgtatctGtcaacaccattggccagctg	9	10	3	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr19:6682024G>C	ENST00000245907.6	-	35	4370	c.4278C>G	c.(4276-4278)gaC>gaG	p.D1426E	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1426	Properdin-binding.				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)	p.D1426E(1)		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)	AGATGTATCTGTCAACACCAT	0.547																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000125730						163	147	152					19																	6682024		2203	4300	6503	C3	SO:0001583	missense	0			-	HGNC	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.4278C>G	19.37:g.6682024G>C	ENSP00000245907:p.Asp1426Glu	Somatic	0	254	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	356	15.24	A7E236	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.D1426E	ENST00000245907.6	37	c.4278	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	3.408	-0.120878	0.06838	.	.	ENSG00000125730	ENST00000245907	T	0.20738	2.05	5.71	2.36	0.29203	Alpha-macroglobulin, receptor-binding (3);	0.363859	0.32488	N	0.006027	T	0.12050	0.0293	N	0.19112	0.55	0.27964	N	0.936663	B	0.17852	0.024	B	0.25506	0.061	T	0.25882	-1.0119	10	0.24483	T	0.36	.	7.2157	0.25959	0.0695:0.1236:0.6787:0.1282	.	1426	P01024	CO3_HUMAN	E	1426	ENSP00000245907:D1426E	ENSP00000245907:D1426E	D	-	3	2	C3	6633024	1.000000	0.71417	0.921000	0.36526	0.255000	0.26057	1.219000	0.32479	0.330000	0.23485	0.586000	0.80456	GAC	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd		0.547	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	G	NM_000064	-		6682024	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	SNP	1.000	C	C	6682024	G	C	6682024	3	2	69	1	0	0	0	0	1	0	0	0	2206	1368	48	4	741	4	C3	19	6682024	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		6682024	52446959	41	3774											
CYP4F2	8529	genome.wustl.edu	37	chr19	16003201	16003201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggcgtcagcatccgaCggtggcggctccacttgtca	14	13	2	0	rs371325087		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr19:16003201C>T	ENST00000221700.6	-	5	538	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											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						CAGCATCCGACGGTGGCGGCT	0.567																																																	0								ENSG00000186115	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	90	90		443	2.7	0.9	19		90	0,8600		0,0,4300	no	missense	CYP4F2	NM_001082.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	148/521	16003201	1,13005	2203	4300	6503	CYP4F2	SO:0001583	missense	0			-	HGNC	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.443G>A	19.37:g.16003201C>T	ENSP00000221700:p.Arg148His	Somatic	0	137	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	197	26.22		Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R148H	ENST00000221700.6	37	c.443	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	16.22	3.060572	0.55432	2.27E-4	0.0	ENSG00000186115	ENST00000221700	D	0.85629	-2.01	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000012	D	0.94499	0.8229	H	0.98594	4.275	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.95131	0.8255	10	0.87932	D	0	.	11.1194	0.48279	0.0:1.0:0.0:0.0	.	148	P78329	CP4F2_HUMAN	H	148	ENSP00000221700:R148H	ENSP00000221700:R148H	R	-	2	0	CYP4F2	15864201	1.000000	0.71417	0.918000	0.36340	0.401000	0.30781	6.048000	0.71046	1.486000	0.48398	0.289000	0.19496	CGT	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.567	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	protein_coding	OTTHUMT00000460372.3	C	NM_001082	-		16003201	-1	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	SNP	0.996	T	T	16003201	C	T	16003201	3	4	69	1	0	0	0	0	1	0	0	0	4190	536	19	1	1155	1	CYP4F2	19	16003201	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	9321177	16003201	43125782	42	3775											
NDUFA13	51079	genome.wustl.edu	37	chr19	19627062	19627062	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgagtatggcggcgtcaaaGgtgaagcaggacatgcctcc	15	10	1	1	rs137852869		TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr19:19627062G>C	ENST00000507754.4	+	1	499	c.15G>C	c.(13-15)aaG>aaC	p.K5N	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.K5N|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000608404.1_Missense_Mutation_p.K5N|NDUFA13_ENST00000512771.3_Missense_Mutation_p.K5N|NDUFA13_ENST00000252576.5_Missense_Mutation_p.K88N|TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000503283.1_Missense_Mutation_p.K5N|NDUFA13_ENST00000428459.2_Missense_Mutation_p.K5N|TSSK6_ENST00000585580.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	5			K -> N (in a Hurthle cell variant of papillary carcinoma sample). {ECO:0000269|PubMed:15841082}.		apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGGCGTCAAAGGTGAAGCAGG	0.617																																																	0			GRCh37	CM055453	NDUFA13	M	rs137852869	ENSG00000250067						45	49	47					19																	19627062		2203	4300	6503	YJEFN3	SO:0001583	missense	0			-	HGNC	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.15G>C	19.37:g.19627062G>C	ENSP00000423673:p.Lys5Asn	Somatic	0	89	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	55	40.86	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP							pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.K5N	ENST00000507754.4	37	c.15	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	35	5.528338	0.96446	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.78003	-1.14;-1.14;-1.14	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	M	0.85542	2.76	0.35668	D	0.813118	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.79784	0.951;0.989;0.993	D	0.92211	0.5776	10	0.49607	T	0.09	.	16.5154	0.84299	0.0:0.0:1.0:0.0	.	5;5;5	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	N	5;88;5;5	ENSP00000423673:K5N;ENSP00000252576:K88N;ENSP00000452549:K5N	ENSP00000252576:K88N	K	+	3	2	YJEFN3;NDUFA13;CTC-260F20.3	19488062	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.712000	0.84684	2.504000	0.84457	0.650000	0.86243	AAG	-	pfam_GRIM-19		0.617	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	protein_coding	OTTHUMT00000367916.6	G	NM_015965	rs137852869		19627062	1	no_errors	ENST00000608404	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19627062	G	C	19627062	3	2	69	1	0	0	0	0	1	0	0	0	10265	991	35	4	17	4	NDUFA13	19	19627062	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	3623861	19627062	39501921	43	3776											
CAPNS1	826	genome.wustl.edu	37	chr19	36632024	36632025	+	In_Frame_Ins	INS	-	-	GGC													gcctgatcagcggggccgggINSggcggcggcggcggcggcgg					rs550053789|rs536693322	byFrequency	TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr19:36632024_36632025insGGC	ENST00000246533.3	+	2	709_710	c.111_112insGGC	c.(112-114)ggc>GGCggc	p.38_38G>GG	CAPNS1_ENST00000588780.1_In_Frame_Ins_p.38_38G>GG|CAPNS1_ENST00000587718.1_In_Frame_Ins_p.38_38G>GG|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_In_Frame_Ins_p.38_38G>GG|CAPNS1_ENST00000588815.1_In_Frame_Ins_p.38_38G>GG	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	38	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGGGCcgggggcggcggcgg	0.752														26	0.00519169	0.0023	0.0058	5008	,	,		4221	0		0.0169	False		,,,				2504	0.002				Esophageal Squamous(129;1541 1691 5780 18353 34150)												0								ENSG00000126247																																			CAPNS1	SO:0001652	inframe_insertion	0				HGNC	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.139_141dupGGC	19.37:g.36632031_36632033dupGGC	ENSP00000246533:p.Gly56dup	Somatic	0	38	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8K0P1|Q8WTX3|Q96EW0	In_Frame_Ins	INS							pfscan_EF_hand_dom	p.41in_frame_insG	ENST00000246533.3	37	c.111_112	CCDS12489.1	19																																																																																			-	NULL		0.752	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	protein_coding	OTTHUMT00000457411.2	-				36632025	1	no_errors	ENST00000588780	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.907	GGC	GGC	36632025	-	GGC	36632024	7	5	69	1	0	1	1	0	0	0	0	0	2635	1219	43	0	113	0	CAPNS1	19	36632024	In_Frame_Ins	INS	-	TCGA-DX-A6BA-01A-11D-A307-09	17004962	36632024	22496959	44	3777											
RINL	126432	genome.wustl.edu	37	chr19	39361491	39361491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcctcttcagggtcgTcctcccttccttcctccttt	6	18	2	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr19:39361491T>C	ENST00000591812.1	-	8	829	c.743A>G	c.(742-744)gAc>gGc	p.D248G	RINL_ENST00000598904.1_Missense_Mutation_p.D134G|RINL_ENST00000340740.3_Missense_Mutation_p.D134G|RINL_ENST00000602238.1_5'UTR|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	248	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TTCAGGGTCGTCCTCCCTTCC	0.632																																																	0								ENSG00000187994						80	73	75					19																	39361491		2203	4299	6502	RINL	SO:0001583	missense	0			-	HGNC	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.743A>G	19.37:g.39361491T>C	ENSP00000467107:p.Asp248Gly	Somatic	0	79	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	74	44.03	B4DPG5	Missense_Mutation	SNP							pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.D248G	ENST00000591812.1	37	c.743	CCDS59386.1	19	.	.	.	.	.	.	.	.	.	.	T	8.206	0.799245	0.16397	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.42513	0.97	0.502	0.502	0.16932	.	3.019890	0.00832	N	0.001675	T	0.26340	0.0643	N	0.19112	0.55	0.09310	N	1	B;B	0.33073	0.396;0.396	B;B	0.26202	0.067;0.067	T	0.15263	-1.0443	9	0.27082	T	0.32	-0.2013	.	.	.	.	248;134	B4DPG5;Q6ZS11	.;RINL_HUMAN	G	134	ENSP00000340369:D134G	ENSP00000340369:D134G	D	-	2	0	RINL	44053331	0.042000	0.20092	0.054000	0.19295	0.030000	0.12068	2.551000	0.45820	0.437000	0.26423	0.260000	0.18958	GAC	-	NULL		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RINL	protein_coding	OTTHUMT00000460433.1	T	NM_198445	-		39361491	-1	no_errors	ENST00000591812	ensembl	human	known	74_37	missense	SNP	0.121	C	C	39361491	T	C	39361491	3	2	69	1	0	0	0	0	1	0	0	0	13383	1667	58	5	977	5	RINL	19	39361491	Missense_Mutation	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09	2729467	39361491	19767492	45	3778											
CHD6	84181	genome.wustl.edu	37	chr20	40033612	40033612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgatcagaaaatggacctGgaccaggcttgtcctcagct	10	11	2	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr20:40033612G>C	ENST00000373233.3	-	37	7946	c.7769C>G	c.(7768-7770)cCa>cGa	p.P2590R	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2590					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAATGGACCTGGACCAGGCTT	0.463																																																	0								ENSG00000124177						152	155	154					20																	40033612		2203	4300	6503	CHD6	SO:0001583	missense	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7769C>G	20.37:g.40033612G>C	ENSP00000362330:p.Pro2590Arg	Somatic	0	124	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	130	21.21	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2590R	ENST00000373233.3	37	c.7769	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876214	0.51801	.	.	ENSG00000124177	ENST00000373233	D	0.85411	-1.98	5.46	4.5	0.54988	.	0.104499	0.43260	D	0.000592	D	0.82967	0.5152	L	0.53249	1.67	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.80372	-0.1410	10	0.59425	D	0.04	-3.3385	16.3687	0.83346	0.0:0.1318:0.8682:0.0	.	2590	Q8TD26	CHD6_HUMAN	R	2590	ENSP00000362330:P2590R	ENSP00000362330:P2590R	P	-	2	0	CHD6	39467026	.	.	0.767000	0.31495	0.980000	0.70556	.	.	1.517000	0.48917	0.655000	0.94253	CCA	-	NULL		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	G		-		40033612	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	SNP	1.000	C	C	40033612	G	C	40033612	3	2	69	1	0	0	0	0	1	0	0	0	3331	1348	47	4	382	4	CHD6	20	40033612	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09		40033612	22991908	46	3779											
COL6A1	1291	genome.wustl.edu	37	chr21	47421263	47421263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggacttcgtcgtcaAggtcatcgaccggctgagcc	12	13	2	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr21:47421263A>G	ENST00000361866.3	+	30	2033	c.1919A>G	c.(1918-1920)aAg>aGg	p.K640R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	640	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TTCGTCGTCAAGGTCATCGAC	0.652																																																	0								ENSG00000142156						119	119	119					21																	47421263		2203	4300	6503	COL6A1	SO:0001583	missense	0			-	HGNC	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1919A>G	21.37:g.47421263A>G	ENSP00000355180:p.Lys640Arg	Somatic	0	79	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	57	46.23	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K640R	ENST00000361866.3	37	c.1919	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	A	15.95	2.985337	0.53934	.	.	ENSG00000142156	ENST00000361866	D	0.83591	-1.74	5.2	4.05	0.47172	von Willebrand factor, type A (3);	0.136669	0.49305	D	0.000152	T	0.73900	0.3646	L	0.35487	1.065	0.43408	D	0.995546	P	0.34934	0.476	B	0.36378	0.223	T	0.67883	-0.5555	10	0.28530	T	0.3	-22.3611	10.8129	0.46557	0.925:0.0:0.075:0.0	.	640	P12109	CO6A1_HUMAN	R	640	ENSP00000355180:K640R	ENSP00000355180:K640R	K	+	2	0	COL6A1	46245691	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	3.875000	0.56108	0.831000	0.34780	-0.404000	0.06349	AAG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	protein_coding	OTTHUMT00000206877.1	A	NM_001848	-		47421263	1	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47421263	A	G	47421263	3	3	69	1	0	0	0	0	1	0	0	0	3701	72	3	5	2037	5	COL6A1	21	47421263	Missense_Mutation	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09		47421263	708632	47	3780											
EWSR1	2130	genome.wustl.edu	37	chr22	29693838	29693838	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattttcaagggagcaAacttaaagtctcccttgctc	8	9	2	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr22:29693838A>T	ENST00000397938.2	+	13	1635	c.1316A>T	c.(1315-1317)aAa>aTa	p.K439I	EWSR1_ENST00000332035.6_Missense_Mutation_p.K383I|EWSR1_ENST00000331029.7_Missense_Mutation_p.K401I|EWSR1_ENST00000332050.6_Missense_Mutation_p.K366I|EWSR1_ENST00000406548.1_Missense_Mutation_p.K438I|EWSR1_ENST00000414183.2_Missense_Mutation_p.K444I	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	439	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		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						CAAGGGAGCAAACTTAAAGTC	0.512			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"																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0								ENSG00000182944						93	90	91					22																	29693838		2203	4300	6503	EWSR1	SO:0001583	missense	0			-	HGNC		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.1316A>T	22.37:g.29693838A>T	ENSP00000381031:p.Lys439Ile	Somatic	0	82	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP							pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.K444I	ENST00000397938.2	37	c.1331	CCDS13851.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.66|14.66	2.601742|2.601742	0.46423|0.46423	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	T;T;T;T;T;T|.	0.09255|.	3.0;3.0;3.0;3.0;3.0;3.0|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.059146|.	0.64402|.	U|.	0.000004|.	T|T	0.62171|0.62171	0.2406|0.2406	L|L	0.45228|0.45228	1.405|1.405	0.54753|0.54753	D|D	0.999983|0.999983	B;B;B;B;B|.	0.28324|.	0.007;0.014;0.007;0.207;0.014|.	B;P;B;P;P|.	0.49887|.	0.397;0.526;0.397;0.625;0.526|.	T|T	0.58702|0.58702	-0.7590|-0.7590	10|5	0.45353|.	T|.	0.12|.	.|.	16.1224|16.1224	0.81369|0.81369	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	383;438;383;444;439|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	I|H	366;439;438;401;444;383|94	ENSP00000330896:K366I;ENSP00000381031:K439I;ENSP00000385726:K438I;ENSP00000330516:K401I;ENSP00000400142:K444I;ENSP00000331699:K383I|.	ENSP00000330516:K401I|.	K|Q	+|+	2|3	0|2	EWSR1|EWSR1	28023838|28023838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.266000|6.266000	0.72540|0.72540	2.208000|2.208000	0.71279|0.71279	0.533000|0.533000	0.62120|0.62120	AAA|CAA	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.512	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	protein_coding	OTTHUMT00000321345.1	A	NM_005243	-		29693838	1	no_errors	ENST00000414183	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29693838	A	T	29693838	3	4	69	1	0	0	0	0	1	0	0	0	5298	14	1	5	1483	5	EWSR1	22	29693838	Missense_Mutation	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09		29693838	21610728	48	3781											
JOSD1	9929	genome.wustl.edu	37	chr22	39085422	39085422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgtcaccatggtgtttgGagacaacctaccaatgtgaa	11	8	1	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chr22:39085422G>A	ENST00000216039.5	-	2	872	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	65	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ATGGTGTTTGGAGACAACCTA	0.507																																																	0								ENSG00000100221						141	106	118					22																	39085422		2203	4300	6503	JOSD1	SO:0001583	missense	0			-	HGNC		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.193C>T	22.37:g.39085422G>A	ENSP00000216039:p.Pro65Ser	Somatic	0	129	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	16	78.08	A8K712	Missense_Mutation	SNP							pfam_Josephin,pfscan_Josephin	p.P65S	ENST00000216039.5	37	c.193	CCDS13976.1	22	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414905	0.83449	.	.	ENSG00000100221	ENST00000216039;ENST00000427389;ENST00000412832	T;T;T	0.39592	1.07;1.07;1.07	5.91	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58769	-0.7578	10	0.46703	T	0.11	.	11.5814	0.50894	0.0666:0.1252:0.8081:0.0	.	65	Q15040	JOS1_HUMAN	S	65	ENSP00000216039:P65S;ENSP00000410010:P65S;ENSP00000415189:P65S	ENSP00000216039:P65S	P	-	1	0	JOSD1	37415368	1.000000	0.71417	0.984000	0.44739	0.928000	0.56348	8.004000	0.88535	0.802000	0.34089	0.655000	0.94253	CCA	-	pfam_Josephin,pfscan_Josephin		0.507	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JOSD1	protein_coding	OTTHUMT00000321047.1	G	NM_014876	-		39085422	-1	no_errors	ENST00000216039	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39085422	G	A	39085422	3	1	69	1	0	0	0	0	1	0	0	0	7960	1174	41	2	427	2	JOSD1	22	39085422	Missense_Mutation	SNP	G	TCGA-DX-A6BA-01A-11D-A307-09	9391584	39085422	12219144	49	3782											
ITIH5L	347365	genome.wustl.edu	37	chrX	54784926	54784926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggccacaagaagctgAtccttggggccacgggctgc	16	11	0	2			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chrX:54784926A>G	ENST00000218436.6	-	8	1610	c.1581T>C	c.(1579-1581)gaT>gaC	p.D527D		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	527					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CAAGAAGCTGATCCTTGGGGC	0.622																																																	0								ENSG00000102313						18	18	18					X																	54784926		2203	4299	6502	ITIH6	SO:0001819	synonymous_variant	0			-	HGNC	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1581T>C	X.37:g.54784926A>G		Somatic	0	13	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	A6NN03	Silent	SNP							pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D527	ENST00000218436.6	37	c.1581	CCDS14361.1	X																																																																																			-	NULL		0.622	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	protein_coding	OTTHUMT00000056814.2	A	NM_198510	-		54784926	-1	no_errors	ENST00000218436	ensembl	human	known	74_37	silent	SNP	0.003	G	G	54784926	A	G	54784926	2	3	69	1	0	0	0	0	0	0	0	1	7910	330	12	5		5	ITIH5L	23	54784926	Silent	SNP	A	TCGA-DX-A6BA-01A-11D-A307-09		54784926	100485634	50	3783											
KIAA1210	57481	genome.wustl.edu	37	chrX	118284427	118284427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccttgggaatacgctcgaCttccaatcctggcccctcgg	10	15	0	0			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chrX:118284427C>A	ENST00000402510.2	-	1	115	c.116G>T	c.(115-117)aGt>aTt	p.S39I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	39										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATACGCTCGACTTCCAATCCT	0.602																																																	0								ENSG00000250423						43	48	46					X																	118284427		1980	4140	6120	KIAA1210	SO:0001583	missense	0			-	HGNC	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.116G>T	X.37:g.118284427C>A	ENSP00000384670:p.Ser39Ile	Somatic	0	91	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	44	50.00	B7ZCI8|Q5JPN4	Missense_Mutation	SNP							NULL	p.S39I	ENST00000402510.2	37	c.116	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	8.951	0.968177	0.18659	.	.	ENSG00000250423	ENST00000402510	T	0.12774	2.65	3.12	1.25	0.21368	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.29508	0.246	B	0.20955	0.032	T	0.34204	-0.9838	9	0.87932	D	0	.	2.8115	0.05443	0.277:0.5597:0.0:0.1633	.	39	Q9ULL0	K1210_HUMAN	I	39	ENSP00000384670:S39I	ENSP00000384670:S39I	S	-	2	0	RP13-347D8.6	118168455	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.194000	0.09559	0.190000	0.20209	0.600000	0.82982	AGT	-	NULL		0.602	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	protein_coding	OTTHUMT00000371251.2	C	NM_020721	-		118284427	-1	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	SNP	0.000	A	A	118284427	C	A	118284427	3	1	69	1	0	0	0	0	1	0	0	0	8216	565	20	3	5069	3	KIAA1210	23	118284427	Missense_Mutation	SNP	C	TCGA-DX-A6BA-01A-11D-A307-09	63499501	118284427	36986133	51	3784											
PNMA5	114824	genome.wustl.edu	37	chrX	152159721	152159721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggtggggatctaactTggggcatgacctctgcatcc	12	10	2	1			TCGA-DX-A6BA-01A-11D-A307-09	TCGA-DX-A6BA-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98730fa6-9c2d-4fd3-8862-ba7f78473395	971c456f-5be0-4a53-9780-492252d16f2e	g.chrX:152159721T>G	ENST00000439251.1	-	2	860	c.422A>C	c.(421-423)cAa>cCa	p.Q141P	PNMA5_ENST00000535214.1_Missense_Mutation_p.Q141P|PNMA5_ENST00000452693.1_Missense_Mutation_p.Q141P|PNMA5_ENST00000361887.5_Missense_Mutation_p.Q141P	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	141					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTAACTTGGGGCATGAC	0.542																																																	0								ENSG00000198883						148	151	150					X																	152159721		2203	4300	6503	PNMA5	SO:0001583	missense	0			-	HGNC	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.422A>C	X.37:g.152159721T>G	ENSP00000388850:p.Gln141Pro	Somatic	0	84	0		0.684682545084188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	62	34.04	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP							NULL	p.Q141P	ENST00000439251.1	37	c.422	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	T	8.913	0.959267	0.18507	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	2.77	-5.54	0.02544	.	.	.	.	.	T	0.10981	0.0268	M	0.78637	2.42	0.09310	N	1	B	0.22851	0.076	B	0.22152	0.038	T	0.31138	-0.9954	9	0.41790	T	0.15	.	3.2033	0.06657	0.1499:0.1198:0.529:0.2013	.	141	Q96PV4	PNMA5_HUMAN	P	141	ENSP00000354834:Q141P;ENSP00000445775:Q141P;ENSP00000388850:Q141P;ENSP00000392342:Q141P	ENSP00000354834:Q141P	Q	-	2	0	PNMA5	151910377	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.743000	0.04845	-1.511000	0.01794	0.381000	0.24937	CAA	-	NULL		0.542	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	protein_coding	OTTHUMT00000060925.1	T	NM_052926	-		152159721	-1	no_errors	ENST00000361887	ensembl	human	known	74_37	missense	SNP	0.000	G	G	152159721	T	G	152159721	3	3	69	1	0	0	0	0	1	0	0	0	12158	1812	63	5	928	5	PNMA5	23	152159721	Missense_Mutation	SNP	T	TCGA-DX-A6BA-01A-11D-A307-09	33875294	152159721	3110839	52	3785											
UBXN10	127733	genome.wustl.edu	37	chr1	20517768	20517768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaacctcctaccgacaCtgcagcattgaaacaatgga	6	12	0	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:20517768C>T	ENST00000375099.3	+	2	798	c.714C>T	c.(712-714)caC>caT	p.H238H		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	238	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCTACCGACACTGCAGCATTG	0.502																																																	0								ENSG00000162543						74	75	75					1																	20517768		2203	4300	6503	UBXN10	SO:0001819	synonymous_variant	0			-	HGNC	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.714C>T	1.37:g.20517768C>T		Somatic	0	47	0		0.648788084645867	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	Q5R386	Silent	SNP							pfam_UBX,smart_UBX,pfscan_UBX	p.H238	ENST00000375099.3	37	c.714	CCDS205.1	1																																																																																			-	pfam_UBX,smart_UBX,pfscan_UBX		0.502	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN10	protein_coding	OTTHUMT00000007693.1	C	NM_152376	-		20517768	1	no_errors	ENST00000375099	ensembl	human	known	74_37	silent	SNP	0.976	T	T	20517768	C	T	20517768	2	4	70	1	0	0	0	0	0	0	0	1	16919	564	20	2		2	UBXN10	1	20517768	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09		20517768	228732853	1	3786											
RUNX3	864	genome.wustl.edu	37	chr1	25229150	25229150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagaatgggttcagttcCgaggtgcctggaggacagca	16	8	1	1	rs567207182		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:25229150C>T	ENST00000308873.6	-	5	719	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RUNX3_ENST00000399916.1_Silent_p.S251S|RUNX3_ENST00000540420.1_Silent_p.S144S|RUNX3_ENST00000338888.3_Silent_p.S251S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	237	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGTTCAGTTCCGAGGTGCCTG	0.617													C|||	1	0.000199681	0	0	5008	,	,		14814	0		0	False		,,,				2504	0.001																0								ENSG00000020633						60	54	56					1																	25229150		2170	4261	6431	RUNX3	SO:0001819	synonymous_variant	0			-	HGNC	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.711G>A	1.37:g.25229150C>T		Somatic	0	166	0		0.648788084645867	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	39	38.10	B1AJV5|Q12969|Q13760	Silent	SNP							pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	p.S251	ENST00000308873.6	37	c.753	CCDS257.1	1																																																																																			-	pirsf_TF_Runt-rel_RUNX		0.617	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	protein_coding	OTTHUMT00000009284.1	C	NM_004350	-		25229150	-1	no_errors	ENST00000338888	ensembl	human	known	74_37	silent	SNP	0.997	T	T	25229150	C	T	25229150	2	4	70	1	0	0	0	0	0	0	0	1	13757	639	23	1		1	RUNX3	1	25229150	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	4711382	25229150	224021471	2	3787											
KANK4	163782	genome.wustl.edu	37	chr1	62737171	62737171	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgttaaccccaacaaacTgaaggttctttttggtccca	6	13	1	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:62737171T>G	ENST00000371153.4	-	4	2369	c.1991A>C	c.(1990-1992)cAg>cCg	p.Q664P	KANK4_ENST00000354381.3_Missense_Mutation_p.Q36P|KANK4_ENST00000371150.1_Missense_Mutation_p.Q20P	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	664						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCAACAAACTGAAGGTTCTT	0.473																																																	0								ENSG00000132854						210	193	199					1																	62737171		2203	4300	6503	KANK4	SO:0001583	missense	0			-	HGNC	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1991A>C	1.37:g.62737171T>G	ENSP00000360195:p.Gln664Pro	Somatic	0	119	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	149	31.19	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP							pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q664P	ENST00000371153.4	37	c.1991	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575873	0.86645	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.61040	0.14;0.33;0.29	5.67	5.67	0.87782	.	0.206588	0.24573	N	0.037370	T	0.79499	0.4456	M	0.86420	2.815	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	D;D	0.75484	0.961;0.986	T	0.83343	-0.0007	10	0.87932	D	0	-13.621	15.924	0.79597	0.0:0.0:0.0:1.0	.	36;664	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	P	664;36;20	ENSP00000360195:Q664P;ENSP00000346352:Q36P;ENSP00000360192:Q20P	ENSP00000346352:Q36P	Q	-	2	0	KANK4	62509759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.532000	0.81985	2.163000	0.67991	0.459000	0.35465	CAG	-	NULL		0.473	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	protein_coding	OTTHUMT00000024877.1	T	NM_181712	-		62737171	-1	no_errors	ENST00000371153	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62737171	T	G	62737171	3	3	70	1	0	0	0	0	1	0	0	0	7981	1580	55	5	1024	5	KANK4	1	62737171	Missense_Mutation	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	37508021	62737171	186513450	3	3788											
SLC44A5	204962	genome.wustl.edu	37	chr1	75669436	75669436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctagtttgtggattTtcctcctggaaaatcttcag	8	9	2	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:75669436T>C	ENST00000370859.3	-	24	2275	c.2130A>G	c.(2128-2130)gaA>gaG	p.E710E		NM_001130058.1	NP_001123530.1	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	710					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTTGTGGATTTTCCTCCTGGA	0.408																																																	0								ENSG00000137968						226	228	227					1																	75669436		692	1591	2283	SLC44A5	SO:0001819	synonymous_variant	0			-	HGNC	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370859.3:c.2130A>G	1.37:g.75669436T>C		Somatic	0	55	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	30	66.67	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP							pfam_Choline_transptr-like	p.E710	ENST00000370859.3	37	c.2130	CCDS44164.1	1																																																																																			-	NULL		0.408	SLC44A5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC44A5	protein_coding	OTTHUMT00000026823.3	T	NM_152697	-		75669436	-1	no_errors	ENST00000370859	ensembl	human	known	74_37	silent	SNP	0.000	C	C	75669436	T	C	75669436	2	2	70	1	0	0	0	0	0	0	0	1	14647	1838	64	5		5	SLC44A5	1	75669436	Silent	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	12932265	75669436	173581185	4	3789											
SNX27	81609	genome.wustl.edu	37	chr1	151611519	151611519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgggacaatcattttatgAttacacagaaaagcaagcag	9	6	1	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:151611519A>G	ENST00000458013.2	+	2	587	c.467A>G	c.(466-468)gAt>gGt	p.D156G	SNX27_ENST00000368838.1_Missense_Mutation_p.D63G|SNX27_ENST00000368843.3_Missense_Mutation_p.D156G			Q96L92	SNX27_HUMAN	sorting nexin family member 27	156					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCATTTTATGATTACACAGAA	0.473																																					Colon(46;291 966 40145 41237 41888)												0								ENSG00000143376						114	104	107					1																	151611519		2203	4300	6503	SNX27	SO:0001583	missense	0			-	HGNC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.467A>G	1.37:g.151611519A>G	ENSP00000400333:p.Asp156Gly	Somatic	0	65	0		0.648788084645867	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP							pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.D156G	ENST00000458013.2	37	c.467		1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173871	0.78452	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.29397	1.57;1.57;1.57	4.66	4.66	0.58398	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.962;0.993	T	0.51973	-0.8637	10	0.59425	D	0.04	.	13.0435	0.58913	1.0:0.0:0.0:0.0	.	156;156	Q96L92;Q96L92-3	SNX27_HUMAN;.	G	156;156;63	ENSP00000400333:D156G;ENSP00000357836:D156G;ENSP00000357831:D63G	ENSP00000357831:D63G	D	+	2	0	SNX27	149878143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.735000	0.91549	1.954000	0.56735	0.482000	0.46254	GAT	-	superfamily_Phox,smart_Phox		0.473	SNX27-003	NOVEL	basic	protein_coding	SNX27	protein_coding	OTTHUMT00000036624.3	A	NM_030918	-		151611519	1	no_errors	ENST00000368843	ensembl	human	known	74_37	missense	SNP	1.000	G	G	151611519	A	G	151611519	3	3	70	1	0	0	0	0	1	0	0	0	14905	333	12	5	473	5	SNX27	1	151611519	Missense_Mutation	SNP	A	TCGA-DX-A6BB-01A-12D-A32I-09	75942083	151611519	97639102	5	3790											
TCHH	7062	genome.wustl.edu	37	chr1	152086555	152086556	+	Start_Codon_Ins	INS	-	-	T													gcttctcagaagtggagacaINStttttttttctttccttcaa					rs141946179	byFrequency	TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGTGGAGACATTTTTTTTTCT	0.361																																																	0								ENSG00000159450																																			TCHH	SO:0001582	initiator_codon_variant	0				HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2dupA	1.37:g.152086564_152086564dupT		Somatic	0	23	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	Q5VUI3	Frame_Shift_Ins	INS							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.M1fs	ENST00000368804.1	37	c.2_1	CCDS41396.1	1																																																																																			-	NULL		0.361	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	-	NM_007113			152086556	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	152086556	-	T	152086555	7	5	70	1	0	1	1	0	0	0	0	0	15707	231	8	0	5837	0	TCHH	1	152086555	Start_Codon_Ins	INS	-	TCGA-DX-A6BB-01A-12D-A32I-09	475036	152086555	97164066	6	3791											
IGFN1	91156	genome.wustl.edu	37	chr1	201166387	201166387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacggatctgtaccgctgCacagcagtaaatgcgtacgg	12	11	1	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr1:201166387C>T	ENST00000335211.4	+	5	439	c.309C>T	c.(307-309)tgC>tgT	p.C103C	IGFN1_ENST00000451870.2_Silent_p.C103C|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	103	Ig-like 1.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTACCGCTGCACAGCAGTAA	0.552																																																	0								ENSG00000163395						152	139	143					1																	201166387		692	1591	2283	IGFN1	SO:0001819	synonymous_variant	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.309C>T	1.37:g.201166387C>T		Somatic	0	44	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	F8WAI1|Q9NT72	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C103	ENST00000335211.4	37	c.309	CCDS53455.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.552	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		C	NM_178275	-		201166387	1	no_errors	ENST00000335211	ensembl	human	known	74_37	silent	SNP	0.676	T	T	201166387	C	T	201166387	2	4	70	1	0	0	0	0	0	0	0	1	7592	718	25	2		2	IGFN1	1	201166387	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	49079832	201166387	48084234	7	3792											
ALMS1	7840	genome.wustl.edu	37	chr2	73676274	73676274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctttctatcagcagAccttacccaatagtcatcta	5	13	4	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr2:73676274A>T	ENST00000264448.6	+	8	2728	c.2617A>T	c.(2617-2619)Acc>Tcc	p.T873S	ALMS1_ENST00000409009.1_Missense_Mutation_p.T831S|ALMS1_ENST00000377715.1_Missense_Mutation_p.T873S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	873	34 X 47 AA approximate tandem repeat.				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						CTATCAGCAGACCTTACCCAA	0.483																																																	0								ENSG00000116127						87	91	90					2																	73676274		1888	4108	5996	ALMS1	SO:0001583	missense	0			-	HGNC	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.2617A>T	2.37:g.73676274A>T	ENSP00000264448:p.Thr873Ser	Somatic	0	36	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP							NULL	p.T873S	ENST00000264448.6	37	c.2617	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	5.780	0.328326	0.10956	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16073	3.25;3.25;2.37	3.66	-7.32	0.01436	.	6.448260	0.00541	N	0.000233	T	0.09335	0.0230	N	0.22421	0.69	0.09310	N	1	P;P;P	0.44241	0.825;0.829;0.683	B;B;B	0.38264	0.255;0.269;0.181	T	0.23619	-1.0183	10	0.10377	T	0.69	.	9.4102	0.38487	0.2543:0.1308:0.6149:0.0	.	873;831;873	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	831;873;873	ENSP00000386627:T831S;ENSP00000264448:T873S;ENSP00000366944:T873S	ENSP00000264448:T873S	T	+	1	0	ALMS1	73529782	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.893000	0.00708	-1.956000	0.01022	0.482000	0.46254	ACC	-	NULL		0.483	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	A	NM_015120	-		73676274	1	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	SNP	0.000	T	T	73676274	A	T	73676274	3	4	70	1	0	0	0	0	1	0	0	0	535	275	10	5	2647	5	ALMS1	2	73676274	Missense_Mutation	SNP	A	TCGA-DX-A6BB-01A-12D-A32I-09		73676274	169523099	8	3793											
LY75	4065	genome.wustl.edu	37	chr2	160750457	160750457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgccccactttcggtcaTattcataatttaaggtggtg	9	8	2	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr2:160750457T>C	ENST00000263636.4	-	3	632	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.Y202C|LY75_ENST00000553424.1_Missense_Mutation_p.Y202C|LY75_ENST00000554112.1_Missense_Mutation_p.Y202C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.Y202C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	202	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTCGGTCATATTCATAATT	0.408																																																	0								ENSG00000054219						101	95	97					2																	160750457		2203	4300	6503	LY75	SO:0001583	missense	0			-	HGNC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.605A>G	2.37:g.160750457T>C	ENSP00000263636:p.Tyr202Cys	Somatic	0	39	0		0.648788084645867	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.82	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Y202C	ENST00000263636.4	37	c.605	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948141	0.34377	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.54	5.54	0.83059	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.32190	N	0.006453	T	0.61148	0.2324	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.65573	0.936;0.935;0.912	T	0.58335	-0.7654	10	0.46703	T	0.11	-11.1798	6.8042	0.23768	0.0:0.082:0.1536:0.7643	.	202;202;202	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	C	202	ENSP00000451511:Y202C;ENSP00000451446:Y202C;ENSP00000263636:Y202C;ENSP00000423463:Y202C;ENSP00000421035:Y202C	ENSP00000423463:Y202C	Y	-	2	0	LY75;LY75-CD302	160458703	0.001000	0.12720	0.996000	0.52242	0.676000	0.39594	0.092000	0.15066	2.230000	0.72887	0.455000	0.32223	TAT	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.408	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	T		-		160750457	-1	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	SNP	0.159	C	C	160750457	T	C	160750457	3	2	70	1	0	0	0	0	1	0	0	0	9101	1406	49	5	4695	5	LY75	2	160750457	Missense_Mutation	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	87074183	160750457	82448916	9	3794											
DLX1	1745	genome.wustl.edu	37	chr2	172950516	172950516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccttctcccatgtcccaCgggcactactccatgcactg	6	18	2	0	rs377533627		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr2:172950516C>T	ENST00000361725.4	+	1	563	c.111C>T	c.(109-111)caC>caT	p.H37H	DLX1_ENST00000341900.6_Silent_p.H37H	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	37					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCATGTCCCACGGGCACTACT	0.622																																																	0								ENSG00000144355						144	136	139					2																	172950516		2203	4300	6503	DLX1	SO:0001819	synonymous_variant	0			-	HGNC	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"Homeoboxes / ANTP class : NKL subclass"	2914	protein-coding gene	gene with protein product		600029	"distal-less homeo box 1"			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.111C>T	2.37:g.172950516C>T		Somatic	0	73	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	51	21.54	D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.H37	ENST00000361725.4	37	c.111	CCDS2247.2	2																																																																																			-	NULL		0.622	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX1	protein_coding	OTTHUMT00000405916.1	C	XM_087198	-		172950516	1	no_errors	ENST00000361725	ensembl	human	known	74_37	silent	SNP	1.000	T	T	172950516	C	T	172950516	2	4	70	1	0	0	0	0	0	0	0	1	4572	535	19	1		1	DLX1	2	172950516	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	12200059	172950516	70248857	10	3795											
SLC39A10	57181	genome.wustl.edu	37	chr2	196581640	196581640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcccctgtcattctggatCcgatctgaaagaaacaggaa	10	10	3	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr2:196581640C>T	ENST00000409086.3	+	7	2251	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	SLC39A10_ENST00000359634.5_Missense_Mutation_p.S659F|SLC39A10_ENST00000541054.1_Missense_Mutation_p.S209F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	659					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CATTCTGGATCCGATCTGAAA	0.488																																																	0								ENSG00000196950						136	127	130					2																	196581640		2203	4300	6503	SLC39A10	SO:0001583	missense	0			-	HGNC		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1976C>T	2.37:g.196581640C>T	ENSP00000386766:p.Ser659Phe	Somatic	0	80	0		0.648788084645867	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP							pfam_ZIP	p.S659F	ENST00000409086.3	37	c.1976	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831824	0.71258	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.50813	0.73;0.73;0.73	5.54	5.54	0.83059	.	0.249082	0.39687	N	0.001290	T	0.55242	0.1908	L	0.39898	1.24	0.37215	D	0.904984	D	0.61080	0.989	P	0.61070	0.883	T	0.61033	-0.7144	10	0.66056	D	0.02	.	12.275	0.54730	0.2788:0.7212:0.0:0.0	.	659	Q9ULF5	S39AA_HUMAN	F	659;659;209	ENSP00000386766:S659F;ENSP00000352655:S659F;ENSP00000437787:S209F	ENSP00000352655:S659F	S	+	2	0	SLC39A10	196289885	0.999000	0.42202	0.782000	0.31804	0.587000	0.36485	6.194000	0.72082	2.890000	0.99128	0.650000	0.86243	TCC	-	pfam_ZIP		0.488	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	protein_coding	OTTHUMT00000335186.1	C	XM_047707	-		196581640	1	no_errors	ENST00000359634	ensembl	human	known	74_37	missense	SNP	0.989	T	T	196581640	C	T	196581640	3	4	70	1	0	0	0	0	1	0	0	0	14621	855	30	2	1998	2	SLC39A10	2	196581640	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	23631124	196581640	46617733	11	3796											
BCS1L	617	genome.wustl.edu	37	chr2	219526532	219526532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaccgtgatgtacacaGctgtgggctctgaatggcgt	15	8	1	3			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr2:219526532G>T	ENST00000431802.1	+	4	1210	c.511G>T	c.(511-513)Gct>Tct	p.A171S	BCS1L_ENST00000412366.1_Missense_Mutation_p.A171S|BCS1L_ENST00000392110.2_Missense_Mutation_p.A171S|BCS1L_ENST00000392111.2_Missense_Mutation_p.A171S|BCS1L_ENST00000439945.1_Missense_Mutation_p.A171S|BCS1L_ENST00000359273.3_Missense_Mutation_p.A171S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.A171S|ZNF142_ENST00000411696.2_5'Flank			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	171					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGTACACAGCTGTGGGCTC	0.537																																																	0								ENSG00000074582						97	87	90					2																	219526532		2203	4300	6503	BCS1L	SO:0001583	missense	0			-	HGNC	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.511G>T	2.37:g.219526532G>T	ENSP00000413908:p.Ala171Ser	Somatic	0	31	0		0.648788084645867	144	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B3KTW9|Q7Z2V7	Missense_Mutation	SNP							pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A171S	ENST00000431802.1	37	c.511	CCDS2419.1	2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258616	0.39896	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.33	5.33	0.75918	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	L	0.28014	0.82	0.80722	D	1	B	0.28026	0.198	B	0.35607	0.206	D	0.88499	0.3081	10	0.09084	T	0.74	-18.6979	19.2185	0.93788	0.0:0.0:1.0:0.0	.	171	Q9Y276	BCS1_HUMAN	S	171;171;51;171;171;171;171;171;171;171	ENSP00000398957:A171S;ENSP00000395440:A171S;ENSP00000412729:A51S;ENSP00000352219:A171S;ENSP00000375957:A171S;ENSP00000375958:A171S;ENSP00000375959:A171S;ENSP00000406494:A171S;ENSP00000404999:A171S;ENSP00000413908:A171S	ENSP00000352219:A171S	A	+	1	0	BCS1L	219234776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.649000	0.83500	2.774000	0.95407	0.650000	0.86243	GCT	-	pfam_BCS1_N		0.537	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	protein_coding	OTTHUMT00000336756.1	G	NM_004328	-		219526532	1	no_errors	ENST00000359273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	219526532	G	T	219526532	3	4	70	1	0	0	0	0	1	0	0	0	1389	971	34	3	521	3	BCS1L	2	219526532	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	22944892	219526532	23672841	12	3797											
DPPA2	151871	genome.wustl.edu	37	chr3	109028041	109028041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattagtactcaaaccgagTtgttgacaccagtcccgcaa	7	13	1	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr3:109028041T>G	ENST00000478945.1	-	4	564	c.318A>C	c.(316-318)caA>caC	p.Q106H		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	106	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAAACCGAGTTGTTGACACC	0.438																																																	0								ENSG00000163530						215	222	219					3																	109028041		2203	4300	6503	DPPA2	SO:0001583	missense	0			-	HGNC	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.318A>C	3.37:g.109028041T>G	ENSP00000417710:p.Gln106His	Somatic	0	75	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	57	25.00	Q8WVF0	Missense_Mutation	SNP							pfscan_SAP_dom	p.Q106H	ENST00000478945.1	37	c.318	CCDS2956.1	3	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426287	0.25726	.	.	ENSG00000163530	ENST00000478945	T	0.50001	0.76	4.48	-2.3	0.06785	DNA-binding SAP (2);	0.796261	0.11023	N	0.608169	T	0.38878	0.1057	M	0.65498	2.005	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.42965	-0.9420	10	0.72032	D	0.01	-3.9934	3.1136	0.06367	0.436:0.1919:0.0:0.372	.	106	Q7Z7J5	DPPA2_HUMAN	H	106	ENSP00000417710:Q106H	ENSP00000417710:Q106H	Q	-	3	2	DPPA2	110510731	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.161000	0.10026	-0.452000	0.07087	-0.441000	0.05720	CAA	-	pfscan_SAP_dom		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	protein_coding	OTTHUMT00000353938.1	T	NM_138815	-		109028041	-1	no_errors	ENST00000478945	ensembl	human	known	74_37	missense	SNP	0.000	G	G	109028041	T	G	109028041	3	3	70	1	0	0	0	0	1	0	0	0	4736	1722	60	5	598	5	DPPA2	3	109028041	Missense_Mutation	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09		109028041	88994389	13	3798											
VPS8	23355	genome.wustl.edu	37	chr3	184647436	184647436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattattgattgctacttacGtgaccctctgcgagaggtga	10	8	1	4			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr3:184647436G>A	ENST00000437079.3	+	33	2954	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	VPS8_ENST00000446204.2_Missense_Mutation_p.R836H|VPS8_ENST00000287546.4_Missense_Mutation_p.R928H|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.R926H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	928							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGCTACTTACGTGACCCTCTG	0.328																																																	0								ENSG00000156931						84	79	80					3																	184647436		1840	4073	5913	VPS8	SO:0001583	missense	0			-	HGNC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2783G>A	3.37:g.184647436G>A	ENSP00000397879:p.Arg928His	Somatic	0	36	0		0.648788084645867	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP							superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R928H	ENST00000437079.3	37	c.2783	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913715	0.33815	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.18960	2.19;2.19;2.19;2.18	5.53	3.72	0.42706	Quinonprotein alcohol dehydrogenase-like (1);	0.213578	0.48286	N	0.000187	T	0.19366	0.0465	L	0.59436	1.845	0.39426	D	0.967002	B;B;B	0.24317	0.003;0.101;0.002	B;B;B	0.21360	0.003;0.034;0.002	T	0.04900	-1.0919	10	0.33141	T	0.24	-10.8025	8.0323	0.30472	0.3201:0.0:0.6799:0.0	.	928;836;926	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	H	928;928;926;836	ENSP00000287546:R928H;ENSP00000397879:R928H;ENSP00000404704:R926H;ENSP00000405483:R836H	ENSP00000287546:R928H	R	+	2	0	VPS8	186130130	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.477000	0.35431	0.680000	0.31366	-0.244000	0.11960	CGT	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold		0.328	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	protein_coding		G	NM_015303	-		184647436	1	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	SNP	0.989	A	A	184647436	G	A	184647436	3	1	70	1	0	0	0	0	1	0	0	0	17225	1145	40	1	2905	1	VPS8	3	184647436	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	75619395	184647436	13374994	14	3799											
ATP13A5	344905	genome.wustl.edu	37	chr3	193036811	193036811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacttctgaaagattccCcatctttaaggttttgtggg	9	9	2	2	rs144655859		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr3:193036811C>A	ENST00000342358.4	-	17	2119	c.2002G>T	c.(2002-2004)Ggg>Tgg	p.G668W		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	668						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)		GAAAGATTCCCCATCTTTAAG	0.498																																																	0								ENSG00000187527						134	135	135					3																	193036811		2203	4300	6503	ATP13A5	SO:0001583	missense	0			-	HGNC	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.2002G>T	3.37:g.193036811C>A	ENSP00000341942:p.Gly668Trp	Somatic	0	90	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G668W	ENST00000342358.4	37	c.2002	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541057	0.27563	.	.	ENSG00000187527	ENST00000342358	T	0.69175	-0.38	5.89	-1.47	0.08772	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.711220	0.02294	N	0.070529	T	0.66127	0.2758	L	0.39245	1.2	0.09310	N	1	D	0.56521	0.976	P	0.51918	0.684	T	0.56438	-0.7979	10	0.62326	D	0.03	2.1934	6.4243	0.21760	0.0:0.4099:0.1241:0.466	.	668	Q4VNC0	AT135_HUMAN	W	668	ENSP00000341942:G668W	ENSP00000341942:G668W	G	-	1	0	ATP13A5	194519505	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.752000	0.04797	-0.365000	0.08076	0.655000	0.94253	GGG	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V		0.498	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	protein_coding	OTTHUMT00000343012.1	C	NM_198505	-		193036811	-1	no_errors	ENST00000342358	ensembl	human	known	74_37	missense	SNP	0.000	A	A	193036811	C	A	193036811	3	1	70	1	0	0	0	0	1	0	0	0	1127	623	22	3	1708	3	ATP13A5	3	193036811	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	8389375	193036811	4985619	15	3800											
FAM190A	401145	genome.wustl.edu	37	chr4	92520141	92520141	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttacacatgtacagcaggaAgaatgtgtttctccaccaca	7	10	1	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr4:92520141A>T	ENST00000509176.1	+	11	2924	c.2636A>T	c.(2635-2637)aAg>aTg	p.K879M	CCSER1_ENST00000333691.8_Missense_Mutation_p.K879M	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	879																	TACAGCAGGAAGAATGTGTTT	0.493																																																	0								ENSG00000184305						48	42	44					4																	92520141		692	1591	2283	CCSER1	SO:0001583	missense	0			-	HGNC		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2636A>T	4.37:g.92520141A>T	ENSP00000425040:p.Lys879Met	Somatic	0	55	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q4W5M0|Q86V57	Missense_Mutation	SNP							NULL	p.K879M	ENST00000509176.1	37	c.2636	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459845	0.63401	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.37411	1.2;1.2	5.49	5.49	0.81192	.	.	.	.	.	T	0.42063	0.1186	N	0.19112	0.55	0.33422	D	0.57994	D	0.69078	0.997	P	0.60345	0.873	T	0.57195	-0.7853	9	0.87932	D	0	-11.6829	14.4428	0.67330	1.0:0.0:0.0:0.0	.	879	Q9C0I3	F190A_HUMAN	M	879	ENSP00000425040:K879M;ENSP00000329482:K879M	ENSP00000329482:K879M	K	+	2	0	FAM190A	92739164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.648000	0.74359	2.205000	0.71048	0.528000	0.53228	AAG	-	NULL		0.493	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	protein_coding	OTTHUMT00000363109.3	A	NM_001145065	-		92520141	1	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	SNP	1.000	T	T	92520141	A	T	92520141	3	4	70	1	0	0	0	0	1	0	0	0	5523	72	3	5	2702	5	FAM190A	4	92520141	Missense_Mutation	SNP	A	TCGA-DX-A6BB-01A-12D-A32I-09		92520141	98634135	16	3801											
DKK2	27123	genome.wustl.edu	37	chr4	107845150	107845150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtctggctttggaggaGtaggtggcatctttccatac	14	7	2	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr4:107845150G>A	ENST00000285311.3	-	4	1446	c.741C>T	c.(739-741)taC>taT	p.Y247Y	DKK2_ENST00000510463.1_Silent_p.Y201Y|DKK2_ENST00000513208.1_Silent_p.Y147Y	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	247	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTTTGGAGGAGTAGGTGGCAT	0.448																																																	0								ENSG00000155011						147	136	140					4																	107845150		2203	4300	6503	DKK2	SO:0001819	synonymous_variant	0			-	HGNC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.741C>T	4.37:g.107845150G>A		Somatic	0	34	0		0.648788084645867	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP							pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.Y247	ENST00000285311.3	37	c.741	CCDS3675.1	4																																																																																			-	NULL		0.448	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	protein_coding	OTTHUMT00000253959.4	G		-		107845150	-1	no_errors	ENST00000285311	ensembl	human	novel	74_37	silent	SNP	1.000	A	A	107845150	G	A	107845150	2	1	70	1	0	0	0	0	0	0	0	1	4547	1024	36	2		2	DKK2	4	107845150	Silent	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	15325009	107845150	83309126	17	3802											
CCNH	902	genome.wustl.edu	37	chr5	86707051	86707051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtaacttaccacaacagatCttggcattgctggcttaaac	7	10	1	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr5:86707051C>T	ENST00000256897.4	-	2	454	c.230G>A	c.(229-231)aGa>aAa	p.R77K	CCNH_ENST00000504878.1_Missense_Mutation_p.R3K|CCNH_ENST00000508855.1_Missense_Mutation_p.R3K|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	77					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.R77K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CACAACAGATCTTGGCATTGC	0.383								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000134480						159	149	152					5																	86707051		2203	4300	6503	CCNH	SO:0001583	missense	0			-	HGNC	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.230G>A	5.37:g.86707051C>T	ENSP00000256897:p.Arg77Lys	Somatic	0	74	0		0.648788084645867	34	40.35	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	41	40.58	Q53X72|Q8TBL9	Missense_Mutation	SNP							pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1	p.R77K	ENST00000256897.4	37	c.230	CCDS4064.1	5	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841665	0.16963	.	.	ENSG00000134480	ENST00000508855;ENST00000256897;ENST00000504878	T;T;T	0.10860	2.83;2.83;2.83	6.07	4.29	0.51040	Cyclin, N-terminal (1);Cyclin-like (3);	0.134405	0.64402	N	0.000002	T	0.03434	0.0099	N	0.01631	-0.79	0.32090	N	0.591985	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.24368	-1.0162	10	0.14656	T	0.56	-13.2357	8.6305	0.33917	0.0:0.7265:0.0:0.2735	.	77;24	P51946;E9PDB6	CCNH_HUMAN;.	K	3;77;3	ENSP00000426454:R3K;ENSP00000256897:R77K;ENSP00000426075:R3K	ENSP00000256897:R77K	R	-	2	0	CCNH	86742807	0.901000	0.30685	0.998000	0.56505	0.996000	0.88848	2.337000	0.43947	1.581000	0.49865	0.655000	0.94253	AGA	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1		0.383	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNH	protein_coding	OTTHUMT00000239291.3	C	NM_001239	-		86707051	-1	no_errors	ENST00000256897	ensembl	human	known	74_37	missense	SNP	0.999	T	T	86707051	C	T	86707051	3	4	70	1	0	0	0	0	1	0	0	0	2927	913	32	2	773	2	CCNH	5	86707051	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09		86707051	94208209	18	3803											
TRPC7	57113	genome.wustl.edu	37	chr5	135651380	135651380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcacatcaccgtttaaaaTtgcttccacctcttctgtgt	5	12	4	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr5:135651380T>C	ENST00000513104.1	-	3	1150	c.868A>G	c.(868-870)Att>Gtt	p.I290V	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	290					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGTTTAAAATTGCTTCCACC	0.458																																																	0								ENSG00000069018						106	109	108					5																	135651380		2062	4221	6283	TRPC7	SO:0001583	missense	0			-	HGNC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.868A>G	5.37:g.135651380T>C	ENSP00000426070:p.Ile290Val	Somatic	0	72	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I290V	ENST00000513104.1	37	c.868	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.69|18.69	3.678041|3.678041	0.68042|0.68042	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000513104;ENST00000265193|ENST00000502753	T|.	0.66460|.	-0.21|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57666|0.57666	0.2069|0.2069	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	B;B|.	0.23128|.	0.08;0.078|.	B;B|.	0.28011|.	0.085;0.078|.	T|T	0.53620|0.53620	-0.8413|-0.8413	10|5	0.29301|.	T|.	0.29|.	-13.7912|-13.7912	16.0238|16.0238	0.80522|0.80522	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	290;290|.	Q70T25;Q9HCX4|.	.;TRPC7_HUMAN|.	V|S	290|289	ENSP00000426070:I290V|.	ENSP00000265193:I290V|.	I|N	-|-	1|2	0|0	TRPC7|TRPC7	135679279|135679279	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.967000|0.967000	0.64934|0.64934	7.868000|7.868000	0.87116|0.87116	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	ATT|AAT	-	tigrfam_TRP_channel		0.458	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	T	NM_020389	-		135651380	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135651380	T	C	135651380	3	2	70	1	0	0	0	0	1	0	0	0	16591	1493	52	5	1760	5	TRPC7	5	135651380	Missense_Mutation	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	48944329	135651380	45263880	19	3804											
C5orf45	51149	genome.wustl.edu	37	chr5	179268934	179268934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcaggtcttgactgaagCgggggcctggctcctccatt	14	11	1	2	rs373245055	byFrequency	TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr5:179268934C>T	ENST00000292586.6	-	5	512	c.422G>A	c.(421-423)cGc>cAc	p.R141H	C5orf45_ENST00000520698.1_Missense_Mutation_p.R86H|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000518235.1_Missense_Mutation_p.R141H|C5orf45_ENST00000376931.2_Missense_Mutation_p.R86H|C5orf45_ENST00000523084.1_Missense_Mutation_p.R7H|C5orf45_ENST00000403396.2_Missense_Mutation_p.R183H|C5orf45_ENST00000518219.1_Missense_Mutation_p.R141H	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	141										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						TTGACTGAAGCGGGGGCCTGG	0.567													c|||	2	0.000399361	0.0015	0	5008	,	,		18572	0		0	False		,,,				2504	0																0								ENSG00000161010	T	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	167	178	174		257,422	0.5	0	5		174	0,8600		0,0,4300	no	missense,missense	C5orf45	NM_001017987.2,NM_016175.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	86/289,141/344	179268934	1,13005	2203	4300	6503	C5orf45	SO:0001583	missense	0			-	HGNC		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.422G>A	5.37:g.179268934C>T	ENSP00000292586:p.Arg141His	Somatic	0	46	0		0.648788084645867	49	47.87	45	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	13	61.76	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP							NULL	p.R141H	ENST00000292586.6	37	c.422	CCDS34319.1	5	.	.	.	.	.	.	.	.	.	.	c	5.961	0.361326	0.11296	2.27E-4	0.0	ENSG00000161010	ENST00000403396;ENST00000518235;ENST00000520698;ENST00000376931;ENST00000518219;ENST00000523084;ENST00000292586	T;T;T;T;T;T;T	0.34072	1.95;1.95;1.95;2.13;1.95;1.38;1.95	4.61	0.509	0.16977	.	0.642318	0.13077	N	0.415634	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.0	T	0.18871	-1.0323	10	0.39692	T	0.17	-1.1032	8.0651	0.30657	0.0:0.2736:0.3231:0.4033	.	86;141;86;141;183	E7EMV9;B7Z1T6;E9PAK6;Q6NTE8;Q6NTE8-2	.;.;.;CE045_HUMAN;.	H	183;141;86;86;141;7;141	ENSP00000384599:R183H;ENSP00000430298:R141H;ENSP00000427849:R86H;ENSP00000366130:R86H;ENSP00000428460:R141H;ENSP00000429107:R7H;ENSP00000292586:R141H	ENSP00000292586:R141H	R	-	2	0	C5orf45	179201540	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.044000	0.13992	-0.228000	0.09869	-3.833000	0.00019	CGC	-	NULL		0.567	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	protein_coding	OTTHUMT00000373760.2	C	NM_016175	-		179268934	-1	no_errors	ENST00000292586	ensembl	human	known	74_37	missense	SNP	0.000	T	T	179268934	C	T	179268934	3	4	70	1	0	0	0	0	1	0	0	0	2306	768	27	1	621	1	C5orf45	5	179268934	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	43617554	179268934	1646326	20	3805											
PRPF4B	8899	genome.wustl.edu	37	chr6	4037782	4037782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaggtctccaagaagaAgaagcagatctcctcggaga	12	9	2	5			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr6:4037782A>G	ENST00000337659.6	+	3	1490	c.1390A>G	c.(1390-1392)Aga>Gga	p.R464G	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R450G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	464	Arg/Lys-rich (basic).				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)				TCCAAGAAGAAGAAGCAGATC	0.458																																																	0								ENSG00000112739						97	80	86					6																	4037782		2203	4300	6503	PRPF4B	SO:0001583	missense	0			-	HGNC	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.1390A>G	6.37:g.4037782A>G	ENSP00000337194:p.Arg464Gly	Somatic	0	34	0		0.648788084645867	4	78.95	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	0	100.00	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R464G	ENST00000337659.6	37	c.1390	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834768	0.50951	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70749	-0.51;-0.51	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.58810	1.83	0.51767	D	0.999938	D	0.54601	0.967	P	0.60789	0.879	T	0.67337	-0.5696	10	0.19590	T	0.45	.	12.0582	0.53548	0.8564:0.1436:0.0:0.0	.	464	Q13523	PRP4B_HUMAN	G	464;450	ENSP00000337194:R464G;ENSP00000439331:R450G	ENSP00000337194:R464G	R	+	1	2	PRPF4B	3982781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.766000	0.47629	1.898000	0.54952	0.459000	0.35465	AGA	-	NULL		0.458	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	protein_coding	OTTHUMT00000314018.2	A		-		4037782	1	no_errors	ENST00000337659	ensembl	human	known	74_37	missense	SNP	1.000	G	G	4037782	A	G	4037782	3	3	70	1	0	0	0	0	1	0	0	0	12578	64	3	5	1400	5	PRPF4B	6	4037782	Missense_Mutation	SNP	A	TCGA-DX-A6BB-01A-12D-A32I-09		4037782	167077285	21	3806											
FAM65B	9750	genome.wustl.edu	37	chr6	24874015	24874015	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcggaggaattttcaatGaaggagttacacctatggaa	12	5	1	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr6:24874015G>T	ENST00000259698.4	-	3	289	c.114C>A	c.(112-114)ttC>ttA	p.F38L	FAM65B_ENST00000510784.2_Missense_Mutation_p.F72L|FAM65B_ENST00000540914.1_Missense_Mutation_p.F38L|FAM65B_ENST00000538035.1_Missense_Mutation_p.F67L|FAM65B_ENST00000378023.4_Missense_Mutation_p.F38L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	38					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AATTTTCAATGAAGGAGTTAC	0.398																																																	0								ENSG00000111913						81	72	75					6																	24874015		1835	4095	5930	FAM65B	SO:0001583	missense	0			-	HGNC	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.114C>A	6.37:g.24874015G>T	ENSP00000259698:p.Phe38Leu	Somatic	0	42	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.F38L	ENST00000259698.4	37	c.114	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025328	0.54683	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02032	4.49;4.49;4.49;4.49;4.49	5.53	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.02083	0.0065	N	0.24115	0.695	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.64183	-0.6467	10	0.32370	T	0.25	-30.3837	8.9113	0.35555	0.2804:0.0:0.7196:0.0	.	72;67;38;38	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	L	38;67;38;38;72	ENSP00000259698:F38L;ENSP00000441138:F67L;ENSP00000367262:F38L;ENSP00000438425:F38L;ENSP00000441305:F72L	ENSP00000259698:F38L	F	-	3	2	FAM65B	24981994	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.614000	0.54160	0.719000	0.32188	-0.126000	0.14955	TTC	-	NULL		0.398	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	protein_coding	OTTHUMT00000040024.2	G		-		24874015	-1	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24874015	G	T	24874015	3	4	70	1	0	0	0	0	1	0	0	0	5602	1281	45	3	3186	3	FAM65B	6	24874015	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	20836233	24874015	146241052	22	3807											
GPX5	2880	genome.wustl.edu	37	chr6	28500188	28500188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacagaaagtcttcagTttcttgaaggtgagtaaatt	9	4	3	4			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr6:28500188T>C	ENST00000412168.2	+	4	539	c.450T>C	c.(448-450)agT>agC	p.S150S	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	150					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AAGTCTTCAGTTTCTTGAAGG	0.443																																																	0								ENSG00000224586						128	122	124					6																	28500188		2203	4300	6503	GPX5	SO:0001819	synonymous_variant	0			-	HGNC	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.450T>C	6.37:g.28500188T>C		Somatic	0	76	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	A1A4Y0	Silent	SNP							pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.S150	ENST00000412168.2	37	c.450	CCDS4652.1	6																																																																																			-	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase		0.443	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	protein_coding	OTTHUMT00000043672.2	T		-		28500188	1	no_errors	ENST00000412168	ensembl	human	known	74_37	silent	SNP	0.971	C	C	28500188	T	C	28500188	2	2	70	1	0	0	0	0	0	0	0	1	6745	1722	60	5		5	GPX5	6	28500188	Silent	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	3626173	28500188	142614879	23	3808											
MUC21	394263	genome.wustl.edu	37	chr6	30955050	30955050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaactctgggtccagCacgacctccagtgggaccag	11	16	1	0	rs56365660	byFrequency	TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr6:30955050C>T	ENST00000376296.3	+	2	1339	c.1098C>T	c.(1096-1098)agC>agT	p.S366S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	366	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTGGGTCCAGCACGACCTCCA	0.637																																																	0								ENSG00000204544						145	141	142					6																	30955050		2187	4282	6469	MUC21	SO:0001819	synonymous_variant	0			-	HGNC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1098C>T	6.37:g.30955050C>T		Somatic	0	75	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP							NULL	p.S366	ENST00000376296.3	37	c.1098	CCDS34388.1	6																																																																																			-	NULL		0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	C	NM_001010909	rs56365660		30955050	1	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	SNP	0.000	T	T	30955050	C	T	30955050	2	4	70	1	0	0	0	0	0	0	0	1	9979	709	25	2		2	MUC21	6	30955050	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	2454862	30955050	140160017	24	3809											
TDRD6	221400	genome.wustl.edu	37	chr6	46657281	46657281	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgaagaagtagatgaagaGatttcactcccagccttaag	10	8	1	5	rs200948216		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr6:46657281G>C	ENST00000316081.6	+	1	1416	c.1416G>C	c.(1414-1416)gaG>gaC	p.E472D	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E472D	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	472					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TAGATGAAGAGATTTCACTCC	0.458																																																	0								ENSG00000180113						98	89	92					6																	46657281		2203	4300	6503	TDRD6	SO:0001583	missense	0			-	HGNC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1416G>C	6.37:g.46657281G>C	ENSP00000346065:p.Glu472Asp	Somatic	0	39	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP							pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E472D	ENST00000316081.6	37	c.1416	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	0.889	-0.726282	0.03158	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.16324	2.35;2.36	5.88	-2.08	0.07254	.	0.767350	0.12638	N	0.451550	T	0.02047	0.0064	N	0.22421	0.69	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.18871	0.023;0.01	T	0.46062	-0.9218	10	0.12430	T	0.62	-0.6945	2.5396	0.04722	0.1404:0.2977:0.3498:0.2122	.	472;472	F5H5M3;O60522	.;TDRD6_HUMAN	D	472	ENSP00000443299:E472D;ENSP00000346065:E472D	ENSP00000346065:E472D	E	+	3	2	TDRD6	46765240	0.002000	0.14202	0.010000	0.14722	0.280000	0.26924	0.022000	0.13511	-0.094000	0.12374	0.655000	0.94253	GAG	-	NULL		0.458	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	G	XM_166443	-		46657281	1	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	SNP	0.003	C	C	46657281	G	C	46657281	3	2	70	1	0	0	0	0	1	0	0	0	15741	933	33	4	1418	4	TDRD6	6	46657281	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	15702231	46657281	124457786	25	3810											
PKHD1	5314	genome.wustl.edu	37	chr6	51892681	51892681	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacttctgtgaggtactggaTgtggagatcaaccctacaga	11	8	2	3			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr6:51892681T>A	ENST00000371117.3	-	31	3849	c.3574A>T	c.(3574-3576)Atc>Ttc	p.I1192F	PKHD1_ENST00000340994.4_Missense_Mutation_p.I1192F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1192	IPT/TIG 6; atypical.				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)					AGGTACTGGATGTGGAGATCA	0.433																																																	0								ENSG00000170927						73	72	72					6																	51892681		2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	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.3574A>T	6.37:g.51892681T>A	ENSP00000360158:p.Ile1192Phe	Somatic	0	47	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.I1192F	ENST00000371117.3	37	c.3574	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375138	0.82682	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88509	-2.23;-2.39	5.71	5.71	0.89125	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92606	0.7651	M	0.72894	2.215	0.41973	D	0.990761	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.96	D	0.93029	0.6447	10	0.52906	T	0.07	.	15.1592	0.72767	0.0:0.0:0.0:1.0	.	1192;1192	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1192	ENSP00000360158:I1192F;ENSP00000341097:I1192F	ENSP00000341097:I1192F	I	-	1	0	PKHD1	52000640	1.000000	0.71417	0.386000	0.26170	0.959000	0.62525	5.258000	0.65479	2.171000	0.68590	0.533000	0.62120	ATC	-	superfamily_Ig_E-set,smart_IPT		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	T	NM_138694	-		51892681	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	0.984	A	A	51892681	T	A	51892681	3	1	70	1	0	0	0	0	1	0	0	0	11973	1464	51	5	8837	5	PKHD1	6	51892681	Missense_Mutation	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	5235400	51892681	119222386	26	3811											
SLC26A4	5172	genome.wustl.edu	37	chr7	107353040	107353040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatagaaacagagctgacGgaagaagaacttgatgtcca	10	6	0	6	rs139556627		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr7:107353040G>A	ENST00000265715.3	+	20	2516	c.2292G>A	c.(2290-2292)acG>acA	p.T764T	SLC26A4_ENST00000543100.1_Silent_p.T333T|SLC26A4_ENST00000544569.1_Silent_p.T351T|SLC26A4_ENST00000541474.1_Silent_p.T325T	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	764					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.T764T(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGAGCTGACGGAAGAAGAAC	0.323									Pendred syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		18435	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)						ENSG00000091137	G		1,4405	2.1+/-5.4	0,1,2202	130	129	130		2292	0.3	0.2	7	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A4	NM_000441.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		764/781	107353040	2,13004	2203	4300	6503	SLC26A4	SO:0001819	synonymous_variant	0	Familial Cancer Database	Goiter-Deafness syndrome	-	HGNC	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2292G>A	7.37:g.107353040G>A		Somatic	0	62	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	B7Z266|O43170	Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T764	ENST00000265715.3	37	c.2292	CCDS5746.1	7																																																																																			-	NULL		0.323	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	protein_coding	OTTHUMT00000337148.1	G	NM_000441	rs139556627		107353040	1	no_errors	ENST00000265715	ensembl	human	known	74_37	silent	SNP	0.076	A	A	107353040	G	A	107353040	2	1	70	1	0	0	0	0	0	0	0	1	14527	1103	39	1		1	SLC26A4	7	107353040	Silent	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09		107353040	51785623	27	3812											
TOX	9760	genome.wustl.edu	37	chr8	59727987	59727987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgagcggctggtgctgCtgcatgttgagatgctggtg	18	6	0	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr8:59727987C>A	ENST00000361421.1	-	7	1522	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	434						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GCTGGTGCTGCTGCATGTTGA	0.567																																					Pancreas(161;610 1969 17913 21374 22725)												0								ENSG00000198846						64	67	66					8																	59727987		2203	4300	6503	TOX	SO:0001583	missense	0			-	HGNC		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1302G>T	8.37:g.59727987C>A	ENSP00000354842:p.Gln434His	Somatic	0	50	0		0.648788084645867	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	Q96AV5	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q434H	ENST00000361421.1	37	c.1302	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657589	0.29425	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.12569	2.67	5.91	5.04	0.67666	.	0.115474	0.64402	D	0.000014	T	0.09642	0.0237	N	0.02247	-0.625	0.48901	D	0.999723	D	0.56521	0.976	P	0.53809	0.735	T	0.45963	-0.9225	9	.	.	.	.	12.0087	0.53274	0.0:0.8611:0.0:0.1389	.	434	O94900	TOX_HUMAN	H	434;184	ENSP00000354842:Q434H	.	Q	-	3	2	TOX	59890541	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.167000	0.31847	1.500000	0.48636	0.591000	0.81541	CAG	-	NULL		0.567	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	protein_coding	OTTHUMT00000378307.1	C	NM_014729	-		59727987	-1	no_errors	ENST00000361421	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59727987	C	A	59727987	3	1	70	1	0	0	0	0	1	0	0	0	16384	796	28	3	290	3	TOX	8	59727987	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09		59727987	86636035	28	3813											
ZFHX4	79776	genome.wustl.edu	37	chr8	77768255	77768255	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttctccaaacagcacatttCaaaagtgagggagaccgttg	9	9	2	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr8:77768255C>G	ENST00000521891.2	+	10	9546	c.9098C>G	c.(9097-9099)tCa>tGa	p.S3033*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S3007*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S2988*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S2988*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2988			V -> G (in dbSNP:rs16939380).		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)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)																																							0								ENSG00000091656						66	66	66					8																	77768255		1959	4144	6103	ZFHX4	SO:0001587	stop_gained	0			-	HGNC		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.9098C>G	8.37:g.77768255C>G	ENSP00000430497:p.Ser3033*	Somatic	0	38	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S3033*	ENST00000521891.2	37	c.9098	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	51	18.191760	0.99901	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.33	4.46	0.54185	.	0.204155	0.24492	U	0.038046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.2922	0.43603	0.0:0.8508:0.0:0.1492	.	.	.	.	X	3033;3017;2988;2988;3007	.	ENSP00000050961:S2988X	S	+	2	0	ZFHX4	77930810	0.998000	0.40836	0.976000	0.42696	0.972000	0.66771	4.678000	0.61641	1.491000	0.48482	0.655000	0.94253	TCA	-	smart_Znf_U1		0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	C	NM_024721	-		77768255	1	no_errors	ENST00000521891	ensembl	human	known	74_37	nonsense	SNP	0.983	G	G	77768255	C	G	77768255	4	3	70	1	0	0	0	0	0	1	0	0	17642	838	29	4	9132	4	ZFHX4	8	77768255	Nonsense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	18040268	77768255	68595767	29	3814											
AGTPBP1	23287	genome.wustl.edu	37	chr9	88247722	88247722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagaggtctgggtcatggaGtgttggtccatcaggtactt	14	6	3	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr9:88247722G>T	ENST00000357081.3	-	14	2014	c.1870C>A	c.(1870-1872)Ctc>Atc	p.L624I	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.L462I|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.L584I|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.L636I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	624					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGTCATGGAGTGTTGGTCCA	0.433																																																	0								ENSG00000135049						172	141	151					9																	88247722		2203	4300	6503	AGTPBP1	SO:0001583	missense	0			-	HGNC	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1870C>A	9.37:g.88247722G>T	ENSP00000349592:p.Leu624Ile	Somatic	0	63	0		0.648788084645867	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	67	36.19	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP							pfam_Peptidase_M14,superfamily_ARM-type_fold	p.L636I	ENST00000357081.3	37	c.1906		9	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306121	0.60305	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.53423	2.0;1.99;1.96;0.62	6.03	6.03	0.97812	.	0.114304	0.64402	D	0.000011	T	0.48696	0.1514	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.48294	0.843;0.908;0.906;0.721	B;B;B;B	0.43123	0.36;0.232;0.409;0.26	T	0.46596	-0.9180	10	0.45353	T	0.12	-10.9082	16.9745	0.86309	0.0:0.1354:0.8646:0.0	.	636;624;462;584	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	I	624;584;636;462	ENSP00000349592:L624I;ENSP00000365251:L584I;ENSP00000365277:L636I;ENSP00000402804:L462I	ENSP00000349592:L624I	L	-	1	0	AGTPBP1	87437542	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.889000	0.69766	2.861000	0.98227	0.655000	0.94253	CTC	-	NULL		0.433	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	protein_coding	OTTHUMT00000052893.1	G	NM_015239	-		88247722	-1	no_errors	ENST00000376109	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88247722	G	T	88247722	3	4	70	1	0	0	0	0	1	0	0	0	400	1029	36	3	1862	3	AGTPBP1	9	88247722	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09		88247722	52965709	30	3815											
FAM120A	23196	genome.wustl.edu	37	chr9	96291677	96291677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcaggaagccaactagccGaaggcaagggaagccagatg	13	10	1	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr9:96291677G>A	ENST00000277165.6	+	9	1743	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	FAM120A_ENST00000333936.5_Missense_Mutation_p.E545K|FAM120A_ENST00000375389.3_Missense_Mutation_p.E517K|FAM120A_ENST00000340893.4_Missense_Mutation_p.E517K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	517				EGKG -> DSRR (in Ref. 1; AAF72867). {ECO:0000305}.		cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAACTAGCCGAAGGCAAGGG	0.562																																																	0								ENSG00000048828						66	59	61					9																	96291677		2203	4300	6503	FAM120A	SO:0001583	missense	0			-	HGNC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1549G>A	9.37:g.96291677G>A	ENSP00000277165:p.Glu517Lys	Somatic	0	45	0		0.648788084645867	59	18.92	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	66	9.46	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP							NULL	p.E545K	ENST00000277165.6	37	c.1633	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353619	0.82243	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.41	5.41	0.78517	.	0.252635	0.34700	N	0.003756	T	0.35219	0.0924	N	0.22421	0.69	0.49798	D	0.999826	P;B;P;B;P	0.52577	0.641;0.308;0.82;0.165;0.954	B;B;B;B;B	0.42062	0.079;0.084;0.054;0.023;0.374	T	0.13098	-1.0522	10	0.09338	T	0.73	-15.8002	19.1972	0.93695	0.0:0.0:1.0:0.0	.	517;545;517;517;517	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;.;F120A_HUMAN;.	K	517;517;545;517	ENSP00000364538:E517K;ENSP00000277165:E517K;ENSP00000334918:E545K;ENSP00000344698:E517K	ENSP00000277165:E517K	E	+	1	0	FAM120A	95331498	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.517000	0.81783	2.532000	0.85374	0.655000	0.94253	GAA	-	NULL		0.562	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	protein_coding	OTTHUMT00000053160.2	G	NM_014612	-		96291677	1	no_errors	ENST00000333936	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96291677	G	A	96291677	3	1	70	1	0	0	0	0	1	0	0	0	5417	1059	37	1	1583	1	FAM120A	9	96291677	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	8043955	96291677	44921754	31	3816											
RALGDS	5900	genome.wustl.edu	37	chr9	135976920	135976920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaccaggatgctcttgTacatgttgccattgtccacg	10	11	1	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr9:135976920T>C	ENST00000372050.3	-	16	2462	c.2441A>G	c.(2440-2442)tAc>tGc	p.Y814C	RALGDS_ENST00000372047.3_Missense_Mutation_p.Y802C|RALGDS_ENST00000393160.3_Missense_Mutation_p.Y759C|RALGDS_ENST00000542690.1_Missense_Mutation_p.Y885C|RALGDS_ENST00000393157.3_Missense_Mutation_p.Y813C|RALGDS_ENST00000372062.3_Missense_Mutation_p.Y785C|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	814	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GATGCTCTTGTACATGTTGCC	0.647			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0								ENSG00000160271						117	121	120					9																	135976920		2203	4300	6503	RALGDS	SO:0001583	missense	0			-	HGNC	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2441A>G	9.37:g.135976920T>C	ENSP00000361120:p.Tyr814Cys	Somatic	0	29	0		0.648788084645867	65	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y885C	ENST00000372050.3	37	c.2654	CCDS6959.1	9	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978779	0.74360	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.12	3.98	0.46160	Ras-association (3);	0.000000	0.64402	D	0.000002	T	0.79616	0.4476	M	0.86864	2.845	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.603;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D;D	0.91635	0.206;0.974;0.999;0.986;0.993;0.993;0.998	T	0.81158	-0.1060	10	0.87932	D	0	.	10.1356	0.42704	0.0:0.0793:0.0:0.9206	.	885;785;802;759;813;802;814	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	C	814;802;759;813;885;785	ENSP00000361120:Y814C;ENSP00000361117:Y802C;ENSP00000376867:Y759C;ENSP00000376864:Y813C;ENSP00000437518:Y885C;ENSP00000361132:Y785C	ENSP00000361117:Y802C	Y	-	2	0	RALGDS	134966741	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.934000	0.87649	0.894000	0.36317	0.379000	0.24179	TAC	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.647	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	protein_coding	OTTHUMT00000054837.1	T	NM_006266	-		135976920	-1	no_errors	ENST00000542690	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135976920	T	C	135976920	3	2	70	1	0	0	0	0	1	0	0	0	13024	1638	57	5	315	5	RALGDS	9	135976920	Missense_Mutation	SNP	T	TCGA-DX-A6BB-01A-12D-A32I-09	39685243	135976920	5236511	32	3817											
ZEB1	6935	genome.wustl.edu	37	chr10	31812861	31812861	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacacctttctccctctagGatgaaagacaagatactagc	6	12	3	3			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr10:31812861G>A	ENST00000320985.10	+	8	2712	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	ZEB1_ENST00000446923.2_Splice_Site_p.D852N|ZEB1_ENST00000542815.3_Splice_Site_p.D801N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Splice_Site_p.D848N|ZEB1_ENST00000361642.5_Splice_Site_p.D869N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	868					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCCCTCTAGGATGAAAGACA	0.333																																					Ovarian(40;423 959 14296 36701 49589)												0								ENSG00000148516						60	60	60					10																	31812861		2203	4300	6503	ZEB1	SO:0001630	splice_region_variant	0			-	HGNC	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2602-1G>A	10.37:g.31812861G>A		Somatic	0	22	0		0.648788084645867	29	42	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.D869N	ENST00000320985.10	37	c.2605	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470067	0.63625	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12039	3.03;2.72;2.76;2.72;2.78	5.57	5.57	0.84162	.	0.803616	0.11117	N	0.597829	T	0.15046	0.0363	L	0.29908	0.895	0.80722	D	1	B;P;B;P;P	0.36282	0.046;0.546;0.027;0.546;0.546	B;B;B;B;B	0.37239	0.015;0.244;0.011;0.164;0.136	T	0.30534	-0.9975	9	.	.	.	-10.7713	19.5459	0.95297	0.0:0.0:1.0:0.0	.	801;852;848;869;868	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	N	650;868;869;863;801;868;848;759;852	ENSP00000444282:D650N;ENSP00000354487:D869N;ENSP00000444891:D801N;ENSP00000319248:D868N;ENSP00000391612:D852N	.	D	+	1	0	ZEB1	31852867	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.230000	0.95299	2.635000	0.89317	0.585000	0.79938	GAT	-	NULL		0.333	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	protein_coding	OTTHUMT00000419083.2	G	NM_030751	-	Missense_Mutation	31812861	1	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31812861	G	A	31812861	5	1	70	1	0	0	0	0	0	0	1	0	17630	1188	41	2	2646	2	ZEB1	10	31812861	Splice_Site	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09		31812861	103721886	33	3818											
MRGPRX4	117196	genome.wustl.edu	37	chr11	18195098	18195098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcatccgcaaaatcctcGtttctgtgatgacctttccc	5	14	2	2	rs376982271		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr11:18195098G>A	ENST00000314254.3	+	1	715	c.295G>A	c.(295-297)Gtt>Att	p.V99I	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAAAATCCTCGTTTCTGTGAT	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		23921	0		0	False		,,,				2504	0																0								ENSG00000179817	G	ILE/VAL	1,4397	2.1+/-5.4	0,1,2198	127	103	111		295	-5.7	0	11		111	0,8586		0,0,4293	no	missense	MRGPRX4	NM_054032.3	29	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	99/323	18195098	1,12983	2199	4293	6492	MRGPRX4	SO:0001583	missense	0			-	HGNC	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.295G>A	11.37:g.18195098G>A	ENSP00000314042:p.Val99Ile	Somatic	0	43	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V99I	ENST00000314254.3	37	c.295	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	G	1.273	-0.612531	0.03690	2.27E-4	0.0	ENSG00000179817	ENST00000314254	T	0.09911	2.93	2.82	-5.65	0.02459	GPCR, rhodopsin-like superfamily (1);	2.205680	0.01516	N	0.018124	T	0.04543	0.0124	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29912	-0.9996	10	0.21540	T	0.41	.	1.0297	0.01535	0.179:0.3617:0.2077:0.2516	.	99	Q96LA9	MRGX4_HUMAN	I	99	ENSP00000314042:V99I	ENSP00000314042:V99I	V	+	1	0	MRGPRX4	18151674	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.026000	0.00004	-1.777000	0.01283	-2.811000	0.00111	GTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	protein_coding	OTTHUMT00000389788.1	G	NM_054032	-		18195098	1	no_errors	ENST00000314254	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18195098	G	A	18195098	3	1	70	1	0	0	0	0	1	0	0	0	9771	1145	40	1	297	1	MRGPRX4	11	18195098	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09		18195098	116811418	34	3819											
PAK1	5058	genome.wustl.edu	37	chr11	77048422	77048422	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattgtcactcttgatgtctCtgtgaatgacctggttcgaa	9	8	3	3			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr11:77048422C>A	ENST00000356341.3	-	12	1694	c.1163G>T	c.(1162-1164)aGa>aTa	p.R388I	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.R388I|PAK1_ENST00000528203.1_Missense_Mutation_p.R290I|PAK1_ENST00000530617.1_Missense_Mutation_p.R388I	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CTTGATGTCTCTGTGAATGAC	0.458																																																	0								ENSG00000149269						99	80	86					11																	77048422		2200	4292	6492	PAK1	SO:0001583	missense	0			-	HGNC	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1163G>T	11.37:g.77048422C>A	ENSP00000348696:p.Arg388Ile	Somatic	0	40	0		0.648788084645867	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.R388I	ENST00000356341.3	37	c.1163	CCDS8250.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.273678|5.273678	0.95459|0.95459	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000533285|ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.047154	.|0.85682	.|D	.|0.000000	T|T	0.72977|0.72977	0.3528|0.3528	H|H	0.97783|0.97783	4.075|4.075	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.995;1.0;1.0;1.0	D|D	0.83829|0.83829	0.0251|0.0251	5|10	.|0.87932	.|D	.|0	.|.	19.5071|19.5071	0.95124|0.95124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|290;388;388;388	.|E9PM17;B3KNX7;Q13153;Q13153-2	.|.;.;PAK1_HUMAN;.	H|I	109|388;388;388;290	.|ENSP00000348696:R388I;ENSP00000433423:R388I;ENSP00000278568:R388I;ENSP00000433211:R290I	.|ENSP00000278568:R388I	Q|R	-|-	3|2	2|0	PAK1|PAK1	76726070|76726070	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.480000|7.480000	0.81109|0.81109	2.617000|2.617000	0.88574|0.88574	0.557000|0.557000	0.71058|0.71058	CAG|AGA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.458	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	protein_coding	OTTHUMT00000382083.2	C	NM_002576	-		77048422	-1	no_errors	ENST00000278568	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77048422	C	A	77048422	3	1	70	1	0	0	0	0	1	0	0	0	11401	913	32	3	543	3	PAK1	11	77048422	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	58853324	77048422	57958094	35	3820											
SOX5	6660	genome.wustl.edu	37	chr12	23998927	23998927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctttaccttccggctcGtttttgatgagctcttccat	7	13	1	2	rs149450279		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr12:23998927G>A	ENST00000451604.2	-	3	572	c.471C>T	c.(469-471)aaC>aaT	p.N157N	SOX5_ENST00000545921.1_Silent_p.N147N|SOX5_ENST00000441133.2_Silent_p.N122N|SOX5_ENST00000541536.1_Silent_p.N144N|SOX5_ENST00000537393.1_Silent_p.N122N|SOX5_ENST00000381381.2_Silent_p.N144N|SOX5_ENST00000309359.1_Silent_p.N144N|SOX5_ENST00000546136.1_Silent_p.N144N|SOX5_ENST00000541847.1_Silent_p.N147N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	157					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.N157N(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						CTTCCGGCTCGTTTTTGATGA	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		17504	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000134532	G	,	0,4406		0,0,2203	105	96	99		471,432	-3	1	12	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	SOX5	NM_006940.4,NM_152989.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	157/764,144/751	23998927	2,13004	2203	4300	6503	SOX5	SO:0001819	synonymous_variant	0			-	HGNC	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.471C>T	12.37:g.23998927G>A		Somatic	0	28	0		0.648788084645867	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.N157	ENST00000451604.2	37	c.471	CCDS8699.1	12																																																																																			-	NULL		0.403	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	G	NM_006940	rs149450279		23998927	-1	no_errors	ENST00000451604	ensembl	human	known	74_37	silent	SNP	0.994	A	A	23998927	G	A	23998927	2	1	70	1	0	0	0	0	0	0	0	1	14962	1136	40	1		1	SOX5	12	23998927	Silent	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09		23998927	109852968	36	3821											
ATP7B	540	genome.wustl.edu	37	chr13	52523831	52523831	+	Frame_Shift_Del	DEL	A	A	-													tgaacaacaccaaaatcgatAaaaccgattacaatccatac							TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr13:52523831delA	ENST00000242839.4	-	12	2988	c.2832delT	c.(2830-2832)tttfs	p.F944fs	ATP7B_ENST00000418097.2_Frame_Shift_Del_p.F944fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Frame_Shift_Del_p.F866fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Del_p.F216fs|ATP7B_ENST00000400366.3_Frame_Shift_Del_p.F833fs|ATP7B_ENST00000400370.3_Frame_Shift_Del_p.F514fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	944					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAAAATCGATAAAACCGATTA	0.398									Wilson disease																																								0								ENSG00000123191						127	115	119					13																	52523831		1891	4121	6012	ATP7B	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2832delT	13.37:g.52523831delA	ENSP00000242839:p.Phe944fs	Somatic	0	35	0		0.648788084645867	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Del	DEL							pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.F944fs	ENST00000242839.4	37	c.2832	CCDS41892.1	13																																																																																			-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB		0.398	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	protein_coding	OTTHUMT00000045981.1	A	NM_000053			52523831	-1	no_errors	ENST00000242839	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52523831	A	-	52523831	7	5	70	1	0	1	0	1	0	0	0	0	1191	359	13	0	1605	0	ATP7B	13	52523831	Frame_Shift_Del	DEL	A	TCGA-DX-A6BB-01A-12D-A32I-09		52523831	62646047	37	3822											
MYCBP2	23077	genome.wustl.edu	37	chr13	77799597	77799597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatccacagctgacttGgactgcccggagctcacagt	11	12	1	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr13:77799597G>A	ENST00000544440.2	-	19	2733	c.2716C>T	c.(2716-2718)Caa>Taa	p.Q906*	MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.Q944*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.Q906*|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											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)		CAGCTGACTTGGACTGCCCGG	0.453																																																	0								ENSG00000005810						164	139	147					13																	77799597		2203	4300	6503	MYCBP2	SO:0001587	stop_gained	0			-	HGNC	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.2716C>T	13.37:g.77799597G>A	ENSP00000444596:p.Gln906*	Somatic	0	61	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	78	29.09		Nonsense_Mutation	SNP							pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q944*	ENST00000544440.2	37	c.2830		13	.	.	.	.	.	.	.	.	.	.	G	42	9.477140	0.99181	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	906;944;906	.	ENSP00000349892:Q906X	Q	-	1	0	MYCBP2	76697598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.452000	0.97615	2.861000	0.98227	0.655000	0.94253	CAA	-	superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold		0.453	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	G	NM_015057	-		77799597	-1	no_errors	ENST00000407578	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	77799597	G	A	77799597	4	1	70	1	0	0	0	0	0	1	0	0	10020	1357	47	2	11466	2	MYCBP2	13	77799597	Nonsense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	25275766	77799597	37370281	38	3823											
C14orf21	161424	genome.wustl.edu	37	chr14	24769849	24769850	+	In_Frame_Ins	INS	-	-	GAGGAG													gattgctggggagtgctgcaINSgaggaggaggaggaggagga					rs113258190|rs544761261|rs71119069	byFrequency	TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr14:24769849_24769850insGAGGAG	ENST00000267425.3	+	2	576_577	c.483_484insGAGGAG	c.(484-486)gag>GAGGAGgag	p.162_162E>EEE	NOP9_ENST00000396802.3_In_Frame_Ins_p.162_162E>EEE|DHRS1_ENST00000396813.1_5'Flank|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	162	Poly-Glu.						poly(A) RNA binding (GO:0044822)	p.A161_E162insG(1)									GGAGTGCTGCAgaggaggagga	0.579																																																	1	Insertion - In frame(1)	liver(1)						ENSG00000196943																																			NOP9	SO:0001652	inframe_insertion	0				HGNC		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.502_507dupGAGGAG	14.37:g.24769850_24769855dupGAGGAG	ENSP00000267425:p.GluGlu168dup	Somatic					0.648788084645867	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MY76|Q8IVF0|Q8TBS6	In_Frame_Ins	INS							superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.165in_frame_insEE	ENST00000267425.3	37	c.483_484	CCDS9624.1	14																																																																																			-	superfamily_ARM-type_fold		0.579	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	protein_coding	OTTHUMT00000073186.2	-				24769850	1	no_errors	ENST00000267425	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.015	GAGGAG	GAGGAG	24769850	-	GAGGAG	24769849	7	5	70	1	0	1	1	0	0	0	0	0	1771	175	7	0	489	0	C14orf21	14	24769849	In_Frame_Ins	INS	-	TCGA-DX-A6BB-01A-12D-A32I-09		24769849	82579691	39	3824											
C14orf102	55051	genome.wustl.edu	37	chr14	90756883	90756883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaactgcaggaaggcctcCaccagctggaactgaagatc	11	11	0	3			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr14:90756883C>T	ENST00000354366.3	-	10	2143	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V	NRDE2_ENST00000357904.3_Silent_p.V406V	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	637																	GGAAGGCCTCCACCAGCTGGA	0.468																																																	0								ENSG00000119720						82	84	83					14																	90756883		2203	4300	6503	NRDE2	SO:0001819	synonymous_variant	0			-	HGNC	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1911G>A	14.37:g.90756883C>T		Somatic	0	29	0		0.648788084645867	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP							pfam_NRDE-2	p.V637	ENST00000354366.3	37	c.1911	CCDS9890.1	14																																																																																			-	NULL		0.468	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	protein_coding	OTTHUMT00000411264.1	C	NM_017970	-		90756883	-1	no_errors	ENST00000354366	ensembl	human	known	74_37	silent	SNP	0.000	T	T	90756883	C	T	90756883	2	4	70	1	0	0	0	0	0	0	0	1	1737	581	21	2		2	C14orf102	14	90756883	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	65987034	90756883	16592657	40	3825											
CHRFAM7A	89832	genome.wustl.edu	37	chr15	30665316	30665316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcaaagggaaaccagcGtacatcgatgtagcaggaac	10	10	1	0	rs527713019		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr15:30665316G>A	ENST00000299847.2	-	6	646	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	CHRFAM7A_ENST00000401522.3_De_novo_Start_OutOfFrame|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000397827.3_De_novo_Start_OutOfFrame	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	65						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GGAAACCAGCGTACATCGATG	0.493													.|||	1	0.000199681	0	0	5008	,	,		21469	0.001		0	False		,,,				2504	0																0								ENSG00000166664																																			CHRFAM7A	SO:0001583	missense	0			-	HGNC	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.193C>T	15.37:g.30665316G>A	ENSP00000299847:p.Arg65Cys	Somatic	0	65	0		0.648788084645867	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	A8KAB9	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.R65C	ENST00000299847.2	37	c.193	CCDS32184.1	15	.	.	.	.	.	.	.	.	.	.	.	13.66	2.303252	0.40795	.	.	ENSG00000166664	ENST00000299847	T	0.80393	-1.37	1.94	1.94	0.25998	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90009	0.4120	10	0.72032	D	0.01	.	9.9401	0.41576	0.0:0.0:1.0:0.0	.	65	Q494W8	CRFM7_HUMAN	C	65	ENSP00000299847:R65C	ENSP00000299847:R65C	R	-	1	0	CHRFAM7A	28452608	1.000000	0.71417	0.985000	0.45067	0.180000	0.23129	5.561000	0.67339	1.400000	0.46741	0.184000	0.17185	CGC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.493	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	protein_coding	OTTHUMT00000430700.1	G	NM_148911	-		30665316	-1	no_errors	ENST00000299847	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30665316	G	A	30665316	3	1	70	1	0	0	0	0	1	0	0	0	3377	1145	40	1	1065	1	CHRFAM7A	15	30665316	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09		30665316	71866076	41	3826											
FBN1	2200	genome.wustl.edu	37	chr15	48797234	48797234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttaccaacacacacacGgccatccagacccacagcca	4	18	1	1	rs193922185		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr15:48797234G>A	ENST00000316623.5	-	16	2403	c.1948C>T	c.(1948-1950)Cgt>Tgt	p.R650C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	650	EGF-like 10; 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)		ACACACACACGGCCATCCAGA	0.498																																																	0								ENSG00000166147						146	130	136					15																	48797234		2197	4296	6493	FBN1	SO:0001583	missense	0			-	HGNC	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.1948C>T	15.37:g.48797234G>A	ENSP00000325527:p.Arg650Cys	Somatic	0	38	0		0.648788084645867	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R650C	ENST00000316623.5	37	c.1948	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.156145	0.94686	.	.	ENSG00000166147	ENST00000316623	D	0.93019	-3.15	5.68	5.68	0.88126	Matrix fibril-associated (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96987	0.9719	10	0.56958	D	0.05	.	18.3597	0.90371	0.0:0.0:1.0:0.0	.	650	P35555	FBN1_HUMAN	C	650	ENSP00000325527:R650C	ENSP00000325527:R650C	R	-	1	0	FBN1	46584526	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.932000	0.87634	2.689000	0.91719	0.655000	0.94253	CGT	-	pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.498	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	G		rs193922185		48797234	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48797234	G	A	48797234	3	1	70	1	0	0	0	0	1	0	0	0	5704	1116	39	1	6871	1	FBN1	15	48797234	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	18131918	48797234	53734158	42	3827											
LINGO1	84894	genome.wustl.edu	37	chr15	77907078	77907078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcacgtgggctgctgccGgttgaagttgagccgccagc	17	12	0	2	rs199628078		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr15:77907078G>A	ENST00000355300.6	-	2	1345	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	LINGO1_ENST00000561030.1_Missense_Mutation_p.R385W	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	391	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCTGCTGCCGGTTGAAGTTG	0.652																																																	0								ENSG00000169783	G	TRP/ARG	0,4128		0,0,2064	20	24	23		1171	2.7	1	15		23	2,8378		0,2,4188	yes	missense	LINGO1	NM_032808.5	101	0,2,6252	AA,AG,GG		0.0239,0.0,0.016	benign	391/621	77907078	2,12506	2064	4190	6254	LINGO1	SO:0001583	missense	0			-	HGNC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1171C>T	15.37:g.77907078G>A	ENSP00000347451:p.Arg391Trp	Somatic	0	68	0		0.648788084645867	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R391W	ENST00000355300.6	37	c.1171	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613981	0.28712	0.0	2.39E-4	ENSG00000169783	ENST00000355300	T	0.55760	0.5	4.93	2.72	0.32119	Cysteine-rich flanking region, C-terminal (1);	0.222919	0.40640	N	0.001046	T	0.46946	0.1419	L	0.51422	1.61	0.51482	D	0.999929	B	0.12013	0.005	B	0.04013	0.001	T	0.51741	-0.8667	10	0.72032	D	0.01	.	13.7055	0.62636	0.0:0.0:0.6353:0.3647	.	391	Q96FE5	LIGO1_HUMAN	W	391	ENSP00000347451:R391W	ENSP00000347451:R391W	R	-	1	2	LINGO1	75694133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.058000	0.41374	1.001000	0.39076	0.462000	0.41574	CGG	-	NULL		0.652	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	protein_coding	OTTHUMT00000419546.1	G	NM_032808	rs199628078		77907078	-1	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	SNP	0.995	A	A	77907078	G	A	77907078	3	1	70	1	0	0	0	0	1	0	0	0	8816	1115	39	1	695	1	LINGO1	15	77907078	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	29109844	77907078	24624314	43	3828											
CHTF18	63922	genome.wustl.edu	37	chr16	841936	841936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggtactctgtggtggAgatgaacgccaggtgagtga	18	7	1	4			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr16:841936A>G	ENST00000262315.9	+	9	1253	c.1190A>G	c.(1189-1191)gAg>gGg	p.E397G	CHTF18_ENST00000455171.2_Missense_Mutation_p.E425G|CHTF18_ENST00000317063.6_Missense_Mutation_p.E592G	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	397					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCTGTGGTGGAGATGAACGCC	0.627																																																	0								ENSG00000127586						51	54	53					16																	841936		2168	4272	6440	CHTF18	SO:0001583	missense	0			-	HGNC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1190A>G	16.37:g.841936A>G	ENSP00000262315:p.Glu397Gly	Somatic	0	46	0		0.648788084645867	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E592G	ENST00000262315.9	37	c.1775	CCDS45371.1	16	.	.	.	.	.	.	.	.	.	.	A	25.2	4.610956	0.87258	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	D;D;D	0.94280	-3.39;-3.39;-3.39	5.04	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97145	0.9827	10	0.87932	D	0	-24.8415	12.7304	0.57195	1.0:0.0:0.0:0.0	rs35825134	425;397	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	G	592;425;397	ENSP00000313029:E592G;ENSP00000406252:E425G;ENSP00000262315:E397G	ENSP00000262315:E397G	E	+	2	0	CHTF18	781937	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	9.075000	0.94004	1.899000	0.54978	0.482000	0.46254	GAG	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.627	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	protein_coding	OTTHUMT00000109061.3	A	NM_022092	-		841936	1	no_errors	ENST00000317063	ensembl	human	known	74_37	missense	SNP	1.000	G	G	841936	A	G	841936	3	3	70	1	0	0	0	0	1	0	0	0	3416	304	11	5	1224	5	CHTF18	16	841936	Missense_Mutation	SNP	A	TCGA-DX-A6BB-01A-12D-A32I-09		841936	89512817	44	3829											
CLCN7	1186	genome.wustl.edu	37	chr16	1497076	1497076	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacagcttgaacacccgtggGagcgacgcctcctgcagcag	12	14	0	1			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr16:1497076G>C	ENST00000382745.4	-	24	2867	c.2262C>G	c.(2260-2262)ctC>ctG	p.L754L	CCDC154_ENST00000389176.3_5'Flank|CLCN7_ENST00000448525.1_Silent_p.L730L|LA16c-390E6.5_ENST00000566287.1_RNA|CCDC154_ENST00000409671.1_5'Flank|CLCN7_ENST00000262318.8_Missense_Mutation_p.P731A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	754	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				ACACCCGTGGGAGCGACGCCT	0.706																																																	0								ENSG00000103249						19	20	20					16																	1497076		2178	4285	6463	CLCN7	SO:0001819	synonymous_variant	0			-	HGNC	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.2262C>G	16.37:g.1497076G>C		Somatic	0	30	0		0.648788084645867	134	14.65	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.P731A	ENST00000382745.4	37	c.2191	CCDS32361.1	16																																																																																			-	NULL		0.706	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	protein_coding	OTTHUMT00000103598.2	G	NM_001287	-		1497076	-1	no_errors	ENST00000262318	ensembl	human	putative	74_37	missense	SNP	0.098	C	C	1497076	G	C	1497076	2	2	70	1	0	0	0	0	0	0	0	1	3470	1161	41	4		4	CLCN7	16	1497076	Silent	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	655140	1497076	88857677	45	3830											
SMG1	23049	genome.wustl.edu	37	chr16	18840640	18840640	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatgcagctgaacccgctGcaggcttgtcttacaagaag	10	10	1	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr16:18840640G>A	ENST00000446231.2	-	54	9983	c.9571C>T	c.(9571-9573)Cag>Tag	p.Q3191*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q3191*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3191					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						TGAACCCGCTGCAGGCTTGTC	0.418																																																	0								ENSG00000157106						45	42	43					16																	18840640		1881	4109	5990	SMG1	SO:0001587	stop_gained	0			-	HGNC	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.9571C>T	16.37:g.18840640G>A	ENSP00000402515:p.Gln3191*	Somatic	0	50	0		0.648788084645867	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3191*	ENST00000446231.2	37	c.9571	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	52	19.984588	0.99925	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.71	5.71	0.89125	.	0.097264	0.45867	D	0.000332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	19.9183	0.97074	0.0:0.0:1.0:0.0	.	.	.	.	X	3191	.	ENSP00000374118:Q3191X	Q	-	1	0	SMG1	18748141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.697000	0.92050	0.579000	0.79373	CAG	-	NULL		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	protein_coding	OTTHUMT00000391817.1	G	NM_015092	-		18840640	-1	no_errors	ENST00000389467	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	18840640	G	A	18840640	4	1	70	1	0	0	0	0	0	1	0	0	14803	1328	46	2	1454	2	SMG1	16	18840640	Nonsense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	17343564	18840640	71514113	46	3831											
ARHGAP17	55114	genome.wustl.edu	37	chr16	24964277	24964277	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagcatgggggtctgaataGaactcatccaggtgagaagt	13	7	2	3			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr16:24964277G>T	ENST00000289968.6	-	11	1008	c.939C>A	c.(937-939)ttC>ttA	p.F313L	ARHGAP17_ENST00000575975.1_5'Flank|ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.F313L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	313	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTCTGAATAGAACTCATCCA	0.502																																																	0								ENSG00000140750						93	93	93					16																	24964277		2197	4300	6497	ARHGAP17	SO:0001583	missense	0			-	HGNC	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.939C>A	16.37:g.24964277G>T	ENSP00000289968:p.Phe313Leu	Somatic	0	40	0		0.648788084645867	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP							pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.F313L	ENST00000289968.6	37	c.939	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390134	0.82902	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.16597	2.33;2.33	5.95	3.81	0.43845	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.46145	D	0.000302	T	0.27419	0.0673	L	0.41356	1.27	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.994;0.987;0.994	T	0.01532	-1.1331	10	0.33940	T	0.23	.	8.3362	0.32217	0.2242:0.0:0.7758:0.0	.	313;313;313	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	L	313	ENSP00000289968:F313L;ENSP00000303130:F313L	ENSP00000289968:F313L	F	-	3	2	ARHGAP17	24871778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.857000	0.39399	1.520000	0.48965	0.563000	0.77884	TTC	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.502	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	protein_coding	OTTHUMT00000436548.3	G	NM_018054	-		24964277	-1	no_errors	ENST00000289968	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24964277	G	T	24964277	3	4	70	1	0	0	0	0	1	0	0	0	867	933	33	3	1746	3	ARHGAP17	16	24964277	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	6123637	24964277	65390476	47	3832											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	ENSG00000141510						50	50	50					17																	7578406		2203	4300	6503	TP53	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;	-	HGNC	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic	0	27	0		0.648788084645867	6	86.67	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	4	86.21	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	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);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs28934578		7578406	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7578406	C	T	7578406	3	4	70	1	0	0	0	0	1	0	0	0	16388	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09		7578406	73616804	48	3833											
EBI3	10148	genome.wustl.edu	37	chr19	4236994	4236994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggccccgagccaggtactAcgtccaagtggcggctcagg	15	14	1	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr19:4236994A>G	ENST00000221847.5	+	5	652	c.599A>G	c.(598-600)tAc>tGc	p.Y200C		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	200	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGTACTACGTCCAAGTG	0.602																																																	0								ENSG00000105246						55	55	55					19																	4236994		2203	4300	6503	EBI3	SO:0001583	missense	0			-	HGNC	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.599A>G	19.37:g.4236994A>G	ENSP00000221847:p.Tyr200Cys	Somatic	0	28	0		0.648788084645867	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	17.65	A0N0N2|O75269	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y200C	ENST00000221847.5	37	c.599	CCDS12123.1	19	.	.	.	.	.	.	.	.	.	.	A	8.628	0.893023	0.17613	.	.	ENSG00000105246	ENST00000221847	T	0.57273	0.41	5.41	-6.19	0.02078	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.682853	0.14562	N	0.312016	T	0.11110	0.0271	N	0.00210	-1.845	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.36138	-0.9760	10	0.34782	T	0.22	-9.3604	4.1764	0.10353	0.3694:0.0:0.2954:0.3352	.	200	Q14213	IL27B_HUMAN	C	200	ENSP00000221847:Y200C	ENSP00000221847:Y200C	Y	+	2	0	EBI3	4187994	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	-0.144000	0.10280	-0.519000	0.06444	-2.009000	0.00441	TAC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.602	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBI3	protein_coding	OTTHUMT00000458005.1	A		-		4236994	1	no_errors	ENST00000221847	ensembl	human	known	74_37	missense	SNP	0.000	G	G	4236994	A	G	4236994	3	3	70	1	0	0	0	0	1	0	0	0	4885	391	14	5	617	5	EBI3	19	4236994	Missense_Mutation	SNP	A	TCGA-DX-A6BB-01A-12D-A32I-09		4236994	54891989	49	3834											
OCEL1	79629	genome.wustl.edu	37	chr19	17339619	17339619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccctgcctaggatcctgGcttcctggacaagcaggctc	11	15	0	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr19:17339619G>A	ENST00000215061.4	+	6	724	c.680G>A	c.(679-681)gGc>gAc	p.G227D	OCEL1_ENST00000601529.1_3'UTR|OCEL1_ENST00000597836.1_Missense_Mutation_p.G171D	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	227										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TAGGATCCTGGCTTCCTGGAC	0.552																																																	0								ENSG00000099330						62	59	60					19																	17339619		2203	4300	6503	OCEL1	SO:0001583	missense	0			-	HGNC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.680G>A	19.37:g.17339619G>A	ENSP00000215061:p.Gly227Asp	Somatic	0	46	0		0.648788084645867	192	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_Occludin_RNApol2_elong_fac_ELL	p.G227D	ENST00000215061.4	37	c.680	CCDS12351.1	19	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984931	0.53934	.	.	ENSG00000099330	ENST00000215061	T	0.20738	2.05	4.12	1.89	0.25635	Occludin/RNA polymerase II elongation factor, ELL domain (1);	1.110570	0.06616	N	0.756546	T	0.19127	0.0459	L	0.29908	0.895	0.27491	N	0.952298	P	0.37914	0.611	B	0.41036	0.346	T	0.24476	-1.0159	10	0.49607	T	0.09	-6.7488	8.3554	0.32327	0.0:0.1662:0.6641:0.1697	.	227	Q9H607	OCEL1_HUMAN	D	227	ENSP00000215061:G227D	ENSP00000215061:G227D	G	+	2	0	OCEL1	17200619	0.390000	0.25213	0.997000	0.53966	0.971000	0.66376	1.532000	0.36029	2.140000	0.66376	0.491000	0.48974	GGC	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.552	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCEL1	protein_coding	OTTHUMT00000463307.1	G	NM_024578	-		17339619	1	no_errors	ENST00000215061	ensembl	human	known	74_37	missense	SNP	0.433	A	A	17339619	G	A	17339619	3	1	70	1	0	0	0	0	1	0	0	0	10818	1203	42	2	702	2	OCEL1	19	17339619	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	13102625	17339619	41789364	50	3835											
SYNGR4	23546	genome.wustl.edu	37	chr19	48876925	48876925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcctcagctgcctggCcttcctcgtcctggacacac	9	18	1	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr19:48876925C>T	ENST00000344846.2	+	3	495	c.245C>T	c.(244-246)gCc>gTc	p.A82V	SYNGR4_ENST00000601610.1_Missense_Mutation_p.A33V|SYNGR4_ENST00000595322.1_Missense_Mutation_p.A33V	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	82	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)		AGCTGCCTGGCCTTCCTCGTC	0.627																																																	0								ENSG00000105467						91	83	86					19																	48876925		2203	4300	6503	SYNGR4	SO:0001583	missense	0			-	HGNC	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.245C>T	19.37:g.48876925C>T	ENSP00000344041:p.Ala82Val	Somatic	0	20	0		0.648788084645867	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	Q3KP58	Missense_Mutation	SNP							pfam_Marvel,pirsf_Synaptogyrin	p.A82V	ENST00000344846.2	37	c.245	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	C	9.988	1.229932	0.22542	.	.	ENSG00000105467	ENST00000344846	T	0.25579	1.79	3.96	-7.92	0.01160	Marvel (1);MARVEL-like domain (1);	0.618562	0.16849	N	0.197037	T	0.09642	0.0237	L	0.28274	0.84	0.24034	N	0.996107	B	0.10296	0.003	B	0.12156	0.007	T	0.29119	-1.0022	10	0.13108	T	0.6	-13.9006	3.3676	0.07208	0.1111:0.1114:0.2234:0.5541	.	82	O95473	SNG4_HUMAN	V	82	ENSP00000344041:A82V	ENSP00000344041:A82V	A	+	2	0	SYNGR4	53568737	0.000000	0.05858	0.654000	0.29608	0.933000	0.57130	-1.562000	0.02156	-1.393000	0.02079	-0.378000	0.06908	GCC	-	pfam_Marvel,pirsf_Synaptogyrin		0.627	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	protein_coding	OTTHUMT00000465704.1	C		-		48876925	1	no_errors	ENST00000344846	ensembl	human	known	74_37	missense	SNP	0.877	T	T	48876925	C	T	48876925	3	4	70	1	0	0	0	0	1	0	0	0	15458	739	26	2	251	2	SYNGR4	19	48876925	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09	31537306	48876925	10252058	51	3836											
SIGLEC9	27180	genome.wustl.edu	37	chr19	51631241	51631241	+	Frame_Shift_Del	DEL	G	G	-													gagtgactcagggggtggtcGggggagctggagccacagcc					rs372152063		TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr19:51631241delG	ENST00000250360.3	+	5	1118	c.1051delG	c.(1051-1053)gggfs	p.G352fs	SIGLEC9_ENST00000440804.3_Frame_Shift_Del_p.G352fs	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	352					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGGGTGGTCGGGGGAGCTGG	0.547																																																	0								ENSG00000129450						137	140	139					19																	51631241		2203	4300	6503	SIGLEC9	SO:0001589	frameshift_variant	0				HGNC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1051delG	19.37:g.51631241delG	ENSP00000250360:p.Gly352fs	Somatic	0	55	0		0.648788084645867	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q6GTU4|Q9BYI9	Frame_Shift_Del	DEL							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.G352fs	ENST00000250360.3	37	c.1051	CCDS12825.1	19																																																																																			-	NULL		0.547	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	protein_coding	OTTHUMT00000464224.1	G	NM_014441			51631241	1	no_errors	ENST00000440804	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	51631241	G	-	51631241	7	5	70	1	0	1	0	1	0	0	0	0	14323	1116	39	0	1069	0	SIGLEC9	19	51631241	Frame_Shift_Del	DEL	G	TCGA-DX-A6BB-01A-12D-A32I-09	2754316	51631241	7497742	52	3837											
LIM2	3982	genome.wustl.edu	37	chr19	51890427	51890427	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctttccctctttgagccGcagagttctccatctggaat	7	14	3	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr19:51890427G>A	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Missense_Mutation_p.R91W	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		tctttgagccgcagagttctc	0.622																																																	0								ENSG00000105370						49	43	45					19																	51890427		2203	4300	6503	LIM2	SO:0001627	intron_variant	0			-	HGNC		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.175+95C>T	19.37:g.51890427G>A		Somatic	0	53	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.R91W	ENST00000596399.1	37	c.271	CCDS59415.1	19	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655382	0.29425	.	.	ENSG00000105370	ENST00000221973	.	.	.	3.97	-1.24	0.09435	.	4.661830	0.01204	N	0.007660	T	0.22244	0.0536	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	8	0.44086	T	0.13	.	0.2938	0.00262	0.3344:0.2049:0.261:0.1997	.	91	P55344-2	.	W	91	.	ENSP00000221973:R91W	R	-	1	2	LIM2	56582239	0.003000	0.15002	0.006000	0.13384	0.425000	0.31504	-0.084000	0.11268	0.054000	0.16065	-0.302000	0.09304	CGG	-	NULL		0.622	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	protein_coding	OTTHUMT00000464247.1	G	NM_030657	-		51890427	-1	no_errors	ENST00000221973	ensembl	human	known	74_37	missense	SNP	0.018	A	A	51890427	G	A	51890427	1	1	70	0	1	0	0	0	0	0	0	0	8797	1086	38	1		1	LIM2	19	51890427	Intron	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	259186	51890427	7238556	53	3838											
BPIL3	128859	genome.wustl.edu	37	chr20	31622058	31622058	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacctggagtgggcatcttCcaatgtgtgtccacaggcat	12	10	1	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr20:31622058C>T	ENST00000349552.1	+	3	264	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	88						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGGCATCTTCCAATGTGTGT	0.562																																																	0								ENSG00000167104						171	132	145					20																	31622058		2203	4300	6503	BPIFB6	SO:0001819	synonymous_variant	0			-	HGNC	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.264C>T	20.37:g.31622058C>T		Somatic	0	44	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25		Silent	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.F88	ENST00000349552.1	37	c.264	CCDS13211.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.562	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	protein_coding	OTTHUMT00000078658.2	C	NM_174897	-		31622058	1	no_errors	ENST00000349552	ensembl	human	known	74_37	silent	SNP	1.000	T	T	31622058	C	T	31622058	2	4	70	1	0	0	0	0	0	0	0	1	1495	854	30	2		2	BPIL3	20	31622058	Silent	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09		31622058	31403462	54	3839											
MMP9	4318	genome.wustl.edu	37	chr20	44641114	44641114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagttcggccacgcgctggGcttagatcattcctcagtgc	12	12	2	2			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr20:44641114G>T	ENST00000372330.3	+	8	1242	c.1223G>T	c.(1222-1224)gGc>gTc	p.G408V	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	408					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CACGCGCTGGGCTTAGATCAT	0.637																																																	0								ENSG00000100985						77	70	72					20																	44641114		2203	4300	6503	MMP9	SO:0001583	missense	0			-	HGNC		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1223G>T	20.37:g.44641114G>T	ENSP00000361405:p.Gly408Val	Somatic	0	66	0		0.648788084645867	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	72	16.28	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.G408V	ENST00000372330.3	37	c.1223	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854531	0.91355	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	D	0.84730	-1.89	4.99	4.99	0.66335	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94984	0.8377	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96392	0.9290	10	0.87932	D	0	.	17.4497	0.87588	0.0:0.0:1.0:0.0	.	408	P14780	MMP9_HUMAN	V	408;53	ENSP00000361405:G408V	ENSP00000361405:G408V	G	+	2	0	MMP9	44074521	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.519000	0.98025	2.606000	0.88127	0.561000	0.74099	GGC	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	protein_coding	OTTHUMT00000080337.1	G		-		44641114	1	no_errors	ENST00000372330	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44641114	G	T	44641114	3	4	70	1	0	0	0	0	1	0	0	0	9671	1203	42	3	1253	3	MMP9	20	44641114	Missense_Mutation	SNP	G	TCGA-DX-A6BB-01A-12D-A32I-09	13019056	44641114	18384406	55	3840											
CCT8	10694	genome.wustl.edu	37	chr21	30434490	30434490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaacaccatcgtctactgCcctttctatgtcatccatca	3	14	4	0			TCGA-DX-A6BB-01A-12D-A32I-09	TCGA-DX-A6BB-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14de9fa-e0f4-4b94-90c3-e3f0392b5f17	2aa256b7-1d6e-4de9-89f3-c13f1318af23	g.chr21:30434490C>A	ENST00000286788.4	-	11	1377	c.1171G>T	c.(1171-1173)Gca>Tca	p.A391S	AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000540844.1_Missense_Mutation_p.A318S|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.A372S	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	391				A -> V (in Ref. 1; BAA02792). {ECO:0000305}.	'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TCGTCTACTGCCCTTTCTATG	0.353																																																	0								ENSG00000156261						176	169	171					21																	30434490		2203	4300	6503	CCT8	SO:0001583	missense	0			-	HGNC	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1171G>T	21.37:g.30434490C>A	ENSP00000286788:p.Ala391Ser	Somatic	0	40	0		0.648788084645867	363	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.A391S	ENST00000286788.4	37	c.1171	CCDS33528.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.356340	0.95854	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.13420	2.59;2.59;2.59	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.42529	1.33	0.80722	D	1	D;D;P;P;P	0.61080	0.989;0.97;0.947;0.934;0.767	D;P;P;P;B	0.65010	0.931;0.888;0.888;0.821;0.341	T	0.00239	-1.1888	10	0.44086	T	0.13	-21.4844	19.1736	0.93590	0.0:1.0:0.0:0.0	.	318;372;391;390;391	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	S	390;391;372;318	ENSP00000286788:A391S;ENSP00000444984:A372S;ENSP00000442730:A318S	ENSP00000286788:A391S	A	-	1	0	CCT8	29356361	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.183000	0.77697	2.836000	0.97738	0.655000	0.94253	GCA	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta		0.353	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	protein_coding	OTTHUMT00000171822.1	C		-		30434490	-1	no_errors	ENST00000286788	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30434490	C	A	30434490	3	1	70	1	0	0	0	0	1	0	0	0	2962	739	26	3	495	3	CCT8	21	30434490	Missense_Mutation	SNP	C	TCGA-DX-A6BB-01A-12D-A32I-09		30434490	17695405	56	3841											
NOTCH2	4853	genome.wustl.edu	37	chr1	120484302	120484302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtctggcacttatccCcagtgaaacccggaaggcag	11	12	2	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr1:120484302C>A	ENST00000256646.2	-	18	3047	c.2828G>T	c.(2827-2829)gGg>gTg	p.G943V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	943	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GCACTTATCCCCAGTGAAACC	0.478			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0								ENSG00000134250						96	81	86					1																	120484302		2203	4300	6503	NOTCH2	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	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.2828G>T	1.37:g.120484302C>A	ENSP00000256646:p.Gly943Val	Somatic	0	26	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G943V	ENST00000256646.2	37	c.2828	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234231	0.79688	.	.	ENSG00000134250	ENST00000256646	D	0.98249	-4.82	6.08	5.18	0.71444	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38381	U	0.001702	D	0.99444	0.9803	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.986;1.0	D	0.97953	1.0333	10	0.87932	D	0	.	14.7263	0.69346	0.0:0.931:0.0:0.069	.	943;943	Q6IQ50;Q04721	.;NOTC2_HUMAN	V	943	ENSP00000256646:G943V	ENSP00000256646:G943V	G	-	2	0	NOTCH2	120285825	1.000000	0.71417	0.956000	0.39512	0.753000	0.42808	5.676000	0.68131	1.592000	0.50018	-0.216000	0.12614	GGG	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.478	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	protein_coding	OTTHUMT00000033679.1	C	NM_024408	-		120484302	-1	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120484302	C	A	120484302	3	1	71	1	0	0	0	0	1	0	0	0	10550	623	22	3	4655	3	NOTCH2	1	120484302	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09		120484302	128766319	1	3842											
FLG2	388698	genome.wustl.edu	37	chr1	152324804	152324804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtgtgtcctcgtgagtGtggtctttgtgagaaccctg	15	7	1	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr1:152324804G>A	ENST00000388718.5	-	3	5530	c.5458C>T	c.(5458-5460)Cac>Tac	p.H1820Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1820					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGTGAGTGTGGTCTTTGT	0.527																																																	0								ENSG00000143520						315	277	290					1																	152324804		2203	4300	6503	FLG2	SO:0001583	missense	0			-	HGNC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5458C>T	1.37:g.152324804G>A	ENSP00000373370:p.His1820Tyr	Somatic	0	74	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	83	21.70	Q9H4U1	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.H1820Y	ENST00000388718.5	37	c.5458	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318271	0.23994	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	0.508	0.508	0.16972	.	.	.	.	.	T	0.01940	0.0061	L	0.33485	1.01	0.09310	N	1	P	0.38110	0.618	B	0.32805	0.153	T	0.44097	-0.9350	8	0.59425	D	0.04	.	.	.	.	.	1820	Q5D862	FILA2_HUMAN	Y	1820	ENSP00000373370:H1820Y	ENSP00000373370:H1820Y	H	-	1	0	FLG2	150591428	.	.	0.009000	0.14445	0.129000	0.20672	.	.	0.564000	0.29238	0.297000	0.19635	CAC	-	prints_Filaggrin		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	G	NM_001014342	-		152324804	-1	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	SNP	0.006	A	A	152324804	G	A	152324804	3	1	71	1	0	0	0	0	1	0	0	0	5925	1377	48	2	1721	2	FLG2	1	152324804	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	31840502	152324804	96925817	2	3843											
FCRL3	115352	genome.wustl.edu	37	chr1	157666077	157666077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaatcagctgccctccGgtgggccggatctctagatt	10	14	3	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000160856						95	91	93					1																	157666077		2203	4300	6503	FCRL3	SO:0001819	synonymous_variant	0			-	HGNC	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.885C>T	1.37:g.157666077G>A		Somatic	0	43	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T295	ENST00000368184.3	37	c.885	CCDS1167.1	1																																																																																			-	smart_Ig_sub,pfscan_Ig-like_dom		0.517	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	protein_coding	OTTHUMT00000051419.2	G	NM_052939	-		157666077	-1	no_errors	ENST00000492769	ensembl	human	known	74_37	silent	SNP	0.000	A	A	157666077	G	A	157666077	2	1	71	1	0	0	0	0	0	0	0	1	5798	1103	39	1		1	FCRL3	1	157666077	Silent	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	5341273	157666077	91584544	3	3844											
ARPC5	10092	genome.wustl.edu	37	chr1	183602270	183602270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttcagagctgcctgtaGggcagctgtcatgtttcctg	12	10	3	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr1:183602270G>T	ENST00000359856.6	-	2	229	c.163C>A	c.(163-165)Cta>Ata	p.L55I	ARPC5_ENST00000294742.6_Missense_Mutation_p.L58I|RGL1_ENST00000536277.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000367534.1_Missense_Mutation_p.L55I|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	55					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						GCTGCCTGTAGGGCAGCTGTC	0.468																																					Melanoma(136;1596 1789 3041 4830 41075)												0								ENSG00000162704						131	134	133					1																	183602270		2203	4300	6503	ARPC5	SO:0001583	missense	0			-	HGNC	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"Actin related protein 2/3 complex subunits"	708	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p16"	604227	"actin related protein 2/3 complex, subunit 5 (16 kD)"			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.163C>A	1.37:g.183602270G>T	ENSP00000352918:p.Leu55Ile	Somatic	0	30	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NEC4|Q6PG42	Missense_Mutation	SNP							pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	p.L58I	ENST00000359856.6	37	c.172	CCDS1357.1	1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790845	0.70452	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.78	4.78	0.61160	.	0.073722	0.56097	D	0.000035	T	0.77592	0.4153	M	0.85710	2.77	0.51233	D	0.999917	B	0.23735	0.09	B	0.44224	0.444	T	0.78188	-0.2301	9	0.59425	D	0.04	-2.6151	10.5342	0.44994	0.1556:0.0:0.8444:0.0	.	55	O15511	ARPC5_HUMAN	I	55;55;58	.	ENSP00000294742:L58I	L	-	1	2	ARPC5	181868893	0.986000	0.35501	0.787000	0.31911	0.983000	0.72400	1.920000	0.40025	2.732000	0.93576	0.655000	0.94253	CTA	-	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc		0.468	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	protein_coding	OTTHUMT00000085477.1	G	NM_005717	-		183602270	-1	no_errors	ENST00000294742	ensembl	human	known	74_37	missense	SNP	0.857	T	T	183602270	G	T	183602270	3	4	71	1	0	0	0	0	1	0	0	0	974	991	35	3	304	3	ARPC5	1	183602270	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	25936193	183602270	65648351	4	3845											
YOD1	55432	genome.wustl.edu	37	chr1	207222921	207222921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacgacatagtacacaCtagtaaagaggcaagagttg	10	8	0	2			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr1:207222921C>T	ENST00000315927.4	-	2	537	c.491G>A	c.(490-492)aGt>aAt	p.S164N	YOD1_ENST00000367084.1_Missense_Mutation_p.S120N|YOD1_ENST00000391927.1_Missense_Mutation_p.S120N|PFKFB2_ENST00000411990.2_5'UTR	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	164	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					ATAGTACACACTAGTAAAGAG	0.483																																																	0								ENSG00000180667						71	65	67					1																	207222921		2203	4300	6503	YOD1	SO:0001583	missense	0			-	HGNC		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.491G>A	1.37:g.207222921C>T	ENSP00000326813:p.Ser164Asn	Somatic	0	59	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP							pfam_OTU,pfscan_OTU	p.S164N	ENST00000315927.4	37	c.491	CCDS31002.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967186	0.92855	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	T;T;T	0.56103	0.48;0.48;0.48	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.037718	0.85682	D	0.000000	T	0.77432	0.4129	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.79584	-0.1743	10	0.87932	D	0	-8.3519	19.4269	0.94746	0.0:1.0:0.0:0.0	.	120;164	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	N	120;164;120	ENSP00000356051:S120N;ENSP00000326813:S164N;ENSP00000375793:S120N	ENSP00000326813:S164N	S	-	2	0	YOD1	205289544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.836000	0.97738	0.655000	0.94253	AGT	-	pfam_OTU,pfscan_OTU		0.483	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	YOD1	protein_coding	OTTHUMT00000087837.1	C	NM_018566	-		207222921	-1	no_errors	ENST00000315927	ensembl	human	known	74_37	missense	SNP	1.000	T	T	207222921	C	T	207222921	3	4	71	1	0	0	0	0	1	0	0	0	17495	565	20	2	559	2	YOD1	1	207222921	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	23620651	207222921	42027700	5	3846											
FBXO41	150726	genome.wustl.edu	37	chr2	73490860	73490860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggccagccagagcgagCggtcggtgaggatgtttgga	18	8	0	2			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr2:73490860C>T	ENST00000521871.1	-	8	2436	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	FBXO41_ENST00000295133.5_Missense_Mutation_p.R735H|FBXO41_ENST00000520530.2_Missense_Mutation_p.R674H			Q8TF61	FBX41_HUMAN	F-box protein 41	674										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CCAGAGCGAGCGGTCGGTGAG	0.637																																																	0								ENSG00000163013						68	85	79					2																	73490860		2153	4249	6402	FBXO41	SO:0001583	missense	0			-	HGNC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2021G>A	2.37:g.73490860C>T	ENSP00000428646:p.Arg674His	Somatic	0	27	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	G3V0Z7|Q2M1V8	Missense_Mutation	SNP							superfamily_F-box_dom	p.R735H	ENST00000521871.1	37	c.2204	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	33	5.226317	0.95173	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.54071	0.59;0.59	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67205	-0.5729	10	0.62326	D	0.03	0.7957	17.897	0.88891	0.0:1.0:0.0:0.0	.	674	Q8TF61	FBX41_HUMAN	H	735;674	ENSP00000295133:R735H;ENSP00000428646:R674H	ENSP00000295133:R735H	R	-	2	0	FBXO41	73344368	1.000000	0.71417	0.973000	0.42090	0.974000	0.67602	5.751000	0.68720	2.813000	0.96785	0.561000	0.74099	CGC	-	NULL		0.637	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	protein_coding	OTTHUMT00000377381.1	C		-		73490860	-1	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73490860	C	T	73490860	3	4	71	1	0	0	0	0	1	0	0	0	5752	768	27	1	630	1	FBXO41	2	73490860	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09		73490860	169708513	6	3847											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447163	226447163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtatttccccccgcccccGtgcattgctcccccaactcc	6	21	0	0			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr2:226447163G>A	ENST00000272907.6	+	4	1443	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	344	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCCGCCCCCGTGCATTGCTC	0.632																																																	0								ENSG00000144460						19	21	20					2																	226447163		1880	4083	5963	NYAP2	SO:0001583	missense	0			-	HGNC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1030G>A	2.37:g.226447163G>A	ENSP00000272907:p.Val344Met	Somatic	0	23	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	15.15	A2RRN4|Q96NL2	Missense_Mutation	SNP							NULL	p.V344M	ENST00000272907.6	37	c.1030	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293486	0.80914	.	.	ENSG00000144460	ENST00000272907	T	0.52295	0.67	5.27	5.27	0.74061	.	0.147007	0.46758	D	0.000276	T	0.68007	0.2954	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	P	0.62298	0.9	T	0.72093	-0.4394	10	0.72032	D	0.01	-16.0337	18.916	0.92506	0.0:0.0:1.0:0.0	.	344	Q9P242	K1486_HUMAN	M	344	ENSP00000272907:V344M	ENSP00000272907:V344M	V	+	1	0	KIAA1486	226155407	1.000000	0.71417	0.771000	0.31576	0.816000	0.46133	9.476000	0.97823	2.462000	0.83206	0.650000	0.86243	GTG	-	NULL		0.632	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	protein_coding	OTTHUMT00000331258.1	G	NM_020864	-		226447163	1	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	SNP	0.995	A	A	226447163	G	A	226447163	3	1	71	1	0	0	0	0	1	0	0	0	8239	1145	40	1	1040	1	KIAA1486	2	226447163	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	152956303	226447163	16752210	7	3848											
KIAA1109	84162	genome.wustl.edu	37	chr4	123280877	123280877	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatctagaacctactcttaGgtaagtaatgagtatataca	7	7	2	2			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr4:123280877G>T	ENST00000264501.4	+	85	15174	c.14801G>T	c.(14800-14802)aGa>aTa	p.R4934I	KIAA1109_ENST00000388738.3_Splice_Site_p.R4934I			Q2LD37	K1109_HUMAN	KIAA1109	4934					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						CCTACTCTTAGGTAAGTAATG	0.308																																																	0								ENSG00000138688						106	95	98					4																	123280877		1856	4090	5946	KIAA1109	SO:0001630	splice_region_variant	0			-	HGNC	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.14801+1G>T	4.37:g.123280877G>T		Somatic	0	36	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP							pfam_Fragile_site-assoc_C	p.R4934I	ENST00000264501.4	37	c.14801	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.454354|5.454354	0.96223|0.96223	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.62364	.|0.03;0.03;0.03	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80675|0.80675	0.4668|0.4668	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.994;0.997	.|D;D	.|0.81914	.|0.975;0.995	T|T	0.81145|0.81145	-0.1066|-0.1066	5|10	.|0.87932	.|D	.|0	.|.	20.3731|20.3731	0.98895|0.98895	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4933;4934	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	Y|I	1310|4934;4934;1603;535	.|ENSP00000264501:R4934I;ENSP00000373390:R4934I;ENSP00000410874:R1603I	.|ENSP00000264501:R4934I	D|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123500327|123500327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.789000|9.789000	0.99068|0.99068	2.829000|2.829000	0.97493|0.97493	0.650000|0.650000	0.86243|0.86243	GAT|AGA	-	pfam_Fragile_site-assoc_C		0.308	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	G	NM_020797	-	Missense_Mutation	123280877	1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123280877	G	T	123280877	5	4	71	1	0	0	0	0	0	0	1	0	8210	1014	35	3	15131	3	KIAA1109	4	123280877	Splice_Site	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		123280877	67873399	8	3849											
CDH10	1008	genome.wustl.edu	37	chr5	24511594	24511594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggctgtgccaactggggAggattcaagaactcgaagat	13	7	1	2			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr5:24511594A>G	ENST00000264463.4	-	6	1351	c.844T>C	c.(844-846)Tcc>Ccc	p.S282P		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	282	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCAACTGGGGAGGATTCAAGA	0.433										HNSCC(23;0.051)																																							0								ENSG00000040731						86	78	81					5																	24511594		2203	4300	6503	CDH10	SO:0001583	missense	0			-	HGNC	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.844T>C	5.37:g.24511594A>G	ENSP00000264463:p.Ser282Pro	Somatic	0	44	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q9ULB3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S282P	ENST00000264463.4	37	c.844	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150873	0.57151	.	.	ENSG00000040731	ENST00000264463	T	0.01871	4.59	4.98	4.98	0.66077	Cadherin (3);Cadherin-like (1);	0.214071	0.42821	D	0.000646	T	0.08223	0.0205	M	0.80616	2.505	0.34144	D	0.666702	D	0.54772	0.968	P	0.53062	0.717	T	0.07214	-1.0784	10	0.72032	D	0.01	.	10.0797	0.42381	0.8314:0.1686:0.0:0.0	.	282	Q9Y6N8	CAD10_HUMAN	P	282	ENSP00000264463:S282P	ENSP00000264463:S282P	S	-	1	0	CDH10	24547351	0.526000	0.26298	0.996000	0.52242	0.938000	0.57974	1.285000	0.33261	1.859000	0.53934	0.528000	0.53228	TCC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.433	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	protein_coding	OTTHUMT00000207345.2	A	NM_006727	-		24511594	-1	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	SNP	0.699	G	G	24511594	A	G	24511594	3	3	71	1	0	0	0	0	1	0	0	0	3098	304	11	5	1550	5	CDH10	5	24511594	Missense_Mutation	SNP	A	TCGA-DX-A6BE-01A-41D-A32I-09		24511594	156403666	9	3850											
CCDC125	202243	genome.wustl.edu	37	chr5	68616304	68616304	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatcaccttctgtcatgtCatcctcttctgtttcccaga	4	13	6	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr5:68616304C>T	ENST00000396496.2	-	2	171	c.64G>A	c.(64-66)Gac>Aac	p.D22N	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.D22N|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.D22N			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	22						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCTGTCATGTCATCCTCTTCT	0.428																																																	0								ENSG00000183323						130	125	126					5																	68616304		2203	4300	6503	CCDC125	SO:0001583	missense	0			-	HGNC	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.64G>A	5.37:g.68616304C>T	ENSP00000379754:p.Asp22Asn	Somatic	0	34	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q86Z19	Missense_Mutation	SNP							NULL	p.D22N	ENST00000396496.2	37	c.64	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	c	22.6	4.307706	0.81247	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.58506	0.44;0.44;0.33	4.67	4.67	0.58626	.	0.174808	0.39544	N	0.001329	T	0.73481	0.3592	M	0.72118	2.19	0.29542	N	0.852029	D;D	0.89917	0.999;1.0	D;D	0.87578	0.964;0.998	T	0.71213	-0.4659	10	0.59425	D	0.04	.	13.453	0.61182	0.0:1.0:0.0:0.0	.	22;22	F8W912;Q86Z20	.;CC125_HUMAN	N	22	ENSP00000379754:D22N;ENSP00000379756:D22N;ENSP00000372865:D22N	ENSP00000372865:D22N	D	-	1	0	CCDC125	68652060	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.261000	0.58841	2.334000	0.79466	0.457000	0.33378	GAC	-	NULL		0.428	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	protein_coding	OTTHUMT00000254027.4	C	NM_176816	-		68616304	-1	no_errors	ENST00000396496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68616304	C	T	68616304	3	4	71	1	0	0	0	0	1	0	0	0	2763	826	29	2	1515	2	CCDC125	5	68616304	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	44104710	68616304	112298956	10	3851											
COL11A2	1302	genome.wustl.edu	37	chr6	33144998	33144998	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccctggggcccgggaAgaccctacatacagggaaag	14	12	0	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr6:33144998A>C	ENST00000374708.4	-	22	1976	c.1718T>G	c.(1717-1719)cTt>cGt	p.L573R	COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374714.1_Missense_Mutation_p.L633R|COL11A2_ENST00000357486.1_Missense_Mutation_p.L638R|COL11A2_ENST00000374712.1_Missense_Mutation_p.L578R|COL11A2_ENST00000395197.1_Missense_Mutation_p.L599R|COL11A2_ENST00000361917.1_Missense_Mutation_p.L552R|COL11A2_ENST00000374713.1_Missense_Mutation_p.L612R|COL11A2_ENST00000341947.2_Missense_Mutation_p.L659R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	659	Collagen-like 3.|Triple-helical 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)			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						GGGCCCGGGAAGACCCTACAT	0.562																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						45	53	50					6																	33144998		1508	2706	4214	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.1718T>G	6.37:g.33144998A>C	ENSP00000363840:p.Leu573Arg	Somatic	0	58	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	50	18.03	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.L659R	ENST00000374708.4	37	c.1976	CCDS43452.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.42|13.42	2.231338|2.231338	0.39399|0.39399	.|.	.|.	ENSG00000204248|ENSG00000204248	ENST00000395196|ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	.|D;D;D;D;D;D;D;D	.|0.94000	.|-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	4.16|4.16	2.97|2.97	0.34412|0.34412	.|.	.|0.067818	.|0.64402	.|D	.|0.000018	D|D	0.92348|0.92348	0.7572|0.7572	L|L	0.49571|0.49571	1.57|1.57	0.44711|0.44711	D|D	0.997705|0.997705	B|D;D;D	0.13594|0.89917	0.008|0.997;0.975;1.0	B|D;P;D	0.12156|0.76071	0.007|0.947;0.877;0.987	D|D	0.90948|0.90948	0.4803|0.4803	8|10	0.23302|0.46703	T|T	0.38|0.11	.|.	8.0806|8.0806	0.30741|0.30741	0.8189:0.0:0.0:0.1811|0.8189:0.0:0.0:0.1811	.|.	65|552;573;659	A2ABA7|P13942-8;P13942-6;P13942	.|.;.;COBA2_HUMAN	V|R	39|573;659;638;633;612;599;578;552	.|ENSP00000363840:L573R;ENSP00000339915:L659R;ENSP00000350079:L638R;ENSP00000363846:L633R;ENSP00000363845:L612R;ENSP00000378623:L599R;ENSP00000363844:L578R;ENSP00000355123:L552R	ENSP00000378622:F39V|ENSP00000339915:L659R	F|L	-|-	1|2	0|0	COL11A2|COL11A2	33252976|33252976	0.740000|0.740000	0.28207|0.28207	0.804000|0.804000	0.32291|0.32291	0.246000|0.246000	0.25737|0.25737	4.162000|4.162000	0.58177|0.58177	0.634000|0.634000	0.30469|0.30469	-0.350000|-0.350000	0.07774|0.07774	TTC|CTT	-	NULL		0.562	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	A		-		33144998	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33144998	A	C	33144998	3	2	71	1	0	0	0	0	1	0	0	0	3670	72	3	5	3406	5	COL11A2	6	33144998	Missense_Mutation	SNP	A	TCGA-DX-A6BE-01A-41D-A32I-09		33144998	137970069	11	3852											
RIMS1	22999	genome.wustl.edu	37	chr6	73043350	73043350	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acggatggggacttcaggaaGatccatcatgaagagcacca	12	9	2	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr6:73043350G>T	ENST00000521978.1	+	29	4178	c.4178G>T	c.(4177-4179)aGa>aTa	p.R1393I	RIMS1_ENST00000538414.1_Missense_Mutation_p.R199I|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1216I|RIMS1_ENST00000401910.3_Missense_Mutation_p.R713I|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1176I|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1242I|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1176I	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1393	Ser-rich.				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)				ACTTCAGGAAGATCCATCATG	0.453																																																	0								ENSG00000079841						66	66	66					6																	73043350		1971	4164	6135	RIMS1	SO:0001583	missense	0			-	HGNC	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.4178G>T	6.37:g.73043350G>T	ENSP00000428417:p.Arg1393Ile	Somatic	0	32	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	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							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R1393I	ENST00000521978.1	37	c.4178	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.83|15.83|15.83	2.949877|2.949877|2.949877	0.53186|0.53186|0.53186	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|.|T;T;T;T;T;T;T;T;T	.|.|0.20463	.|.|2.36;2.47;2.47;2.47;2.42;2.5;2.31;2.12;2.07	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|.	.|.|0.079158	.|.|0.53938	.|.|D	.|.|0.000060	T|T|T	0.24353|0.24353|0.24353	0.0590|0.0590|0.0590	L|L|L	0.31752|0.31752|0.31752	0.955|0.955|0.955	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;D;B;B;B;B;B	.|.|0.69078	.|.|0.001;0.997;0.001;0.001;0.002;0.004;0.002	.|.|B;D;B;B;B;B;B	.|.|0.73708	.|.|0.001;0.981;0.003;0.002;0.001;0.004;0.003	T|T|T	0.01238|0.01238|0.01238	-1.1409|-1.1409|-1.1409	5|5|10	.|.|0.51188	.|.|T	.|.|0.08	-27.4946|-27.4946|-27.4946	14.3911|14.3911|14.3911	0.66978|0.66978|0.66978	0.0:0.0:0.8523:0.1477|0.0:0.0:0.8523:0.1477|0.0:0.0:0.8523:0.1477	.|.|.	.|.|199;1242;713;1176;469;1216;1393	.|.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;RIMS1_HUMAN	Y|N|I	311|738|1216;1242;1216;1176;1242;1176;1393;713;558;441;199	.|.|ENSP00000430101:R1216I;ENSP00000275037:R1176I;ENSP00000264839:R1242I;ENSP00000429959:R1176I;ENSP00000428417:R1393I;ENSP00000385649:R713I;ENSP00000389503:R558I;ENSP00000359448:R441I;ENSP00000439730:R199I	.|.|ENSP00000264839:R1242I	D|K|R	+|+|+	1|3|2	0|2|0	RIMS1|RIMS1|RIMS1	73100071|73100071|73100071	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	5.042000|5.042000|5.042000	0.64202|0.64202|0.64202	2.683000|2.683000|2.683000	0.91414|0.91414|0.91414	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|AAG|AGA	-	NULL		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	G		-		73043350	1	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73043350	G	T	73043350	3	4	71	1	0	0	0	0	1	0	0	0	13375	942	33	3	4455	3	RIMS1	6	73043350	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	39898352	73043350	98071717	12	3853											
BBS9	27241	genome.wustl.edu	37	chr7	33303966	33303966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgaacagcaaaaacttGgttctggaaaaagactagtt	9	6	1	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr7:33303966G>A	ENST00000242067.6	+	7	1203	c.682G>A	c.(682-684)Ggt>Agt	p.G228S	BBS9_ENST00000354265.4_Missense_Mutation_p.G228S|BBS9_ENST00000396127.2_Missense_Mutation_p.G228S|BBS9_ENST00000355070.2_Missense_Mutation_p.G228S|BBS9_ENST00000350941.3_Missense_Mutation_p.G228S|BBS9_ENST00000425508.2_Missense_Mutation_p.G183S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	228					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCAAAAACTTGGTTCTGGAAA	0.294									Bardet-Biedl syndrome																																								0								ENSG00000122507						41	46	44					7																	33303966		2201	4299	6500	BBS9	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	-	HGNC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.682G>A	7.37:g.33303966G>A	ENSP00000242067:p.Gly228Ser	Somatic	0	144	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	164	20.77	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP							NULL	p.G228S	ENST00000242067.6	37	c.682	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381850	0.42207	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.24	5.24	0.73138	.	0.161449	0.53938	D	0.000041	T	0.63593	0.2524	N	0.17082	0.46	0.43555	D	0.995861	B;B;B;B;B	0.15930	0.003;0.002;0.007;0.002;0.015	B;B;B;B;B	0.20577	0.008;0.009;0.013;0.009;0.03	T	0.58103	-0.7695	10	0.02654	T	1	-7.8611	12.6537	0.56776	0.0865:0.0:0.9135:0.0	.	228;228;228;228;228	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	S	228;228;228;228;228;228;228;183;106;106	ENSP00000242067:G228S;ENSP00000313122:G228S;ENSP00000379433:G228S;ENSP00000347182:G228S;ENSP00000346214:G228S;ENSP00000405151:G183S;ENSP00000388646:G106S	ENSP00000242067:G228S	G	+	1	0	BBS9	33270491	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.933000	0.56545	2.448000	0.82819	0.655000	0.94253	GGT	-	NULL		0.294	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	protein_coding	OTTHUMT00000329064.1	G		-		33303966	1	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33303966	G	A	33303966	3	1	71	1	0	0	0	0	1	0	0	0	1342	1348	47	2	704	2	BBS9	7	33303966	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		33303966	125834697	13	3854											
TSC22D4	81628	genome.wustl.edu	37	chr7	100075194	100075194	+	Frame_Shift_Del	DEL	G	G	-													gcctgaggtccaggagaggtGgggggtggacggagccagga							TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr7:100075194delG	ENST00000300181.2	-	2	1222	c.468delC	c.(466-468)cccfs	p.P156fs	TSC22D4_ENST00000393991.1_Intron|TSC22D4_ENST00000496728.1_5'Flank	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	156					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGAGAGGTGGGGGGTGGAC	0.692																																																	0								ENSG00000166925						8	10	10					7																	100075194		2114	4173	6287	TSC22D4	SO:0001589	frameshift_variant	0				HGNC	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.468delC	7.37:g.100075194delG	ENSP00000300181:p.Pro156fs	Somatic	0	8	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	A4D2C3|A8MWR6|D6W5V9	Frame_Shift_Del	DEL							pfam_TSC-22_Dip_Bun	p.T157fs	ENST00000300181.2	37	c.468	CCDS5695.1	7																																																																																			-	NULL		0.692	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D4	protein_coding	OTTHUMT00000316970.1	G	NM_030935			100075194	-1	no_errors	ENST00000300181	ensembl	human	known	74_37	frame_shift_del	DEL	0.536	-	-	100075194	G	-	100075194	7	5	71	1	0	1	0	1	0	0	0	0	16617	1335	47	0	735	0	TSC22D4	7	100075194	Frame_Shift_Del	DEL	G	TCGA-DX-A6BE-01A-41D-A32I-09	66771228	100075194	59063469	14	3855											
NKAIN3	286183	genome.wustl.edu	37	chr8	63659614	63659614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggacgattacacgtacGtctctgtcacaggctgcatc	10	11	2	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr8:63659614G>A	ENST00000523211.1	+	4	529	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V133I	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TTACACGTACGTCTCTGTCAC	0.498																																																	0								ENSG00000185942						128	130	129					8																	63659614		2085	4223	6308	NKAIN3	SO:0001583	missense	0			-	HGNC	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.397G>A	8.37:g.63659614G>A	ENSP00000429073:p.Val133Ile	Somatic	0	43	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00		Missense_Mutation	SNP							pfam_Na/K-Atpase_Interacting	p.V133I	ENST00000523211.1	37	c.397	CCDS55239.1	8	.	.	.	.	.	.	.	.	.	.	G	4.022	0.001510	0.07819	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.13196	2.61;2.61	5.49	4.62	0.57501	.	0.168540	0.41194	N	0.000937	T	0.05686	0.0149	N	0.04805	-0.155	0.30287	N	0.790765	B	0.22800	0.075	B	0.20767	0.031	T	0.28364	-1.0046	10	0.07644	T	0.81	-21.9403	9.4637	0.38800	0.1595:0.0:0.8405:0.0	.	133	Q8N8D7	NKAI3_HUMAN	I	133	ENSP00000429073:V133I;ENSP00000333627:V133I	ENSP00000333627:V133I	V	+	1	0	NKAIN3	63822168	1.000000	0.71417	0.058000	0.19502	0.549000	0.35272	4.750000	0.62162	1.324000	0.45282	0.650000	0.86243	GTC	-	pfam_Na/K-Atpase_Interacting		0.498	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN3	protein_coding	OTTHUMT00000378447.2	G	NM_173688	-		63659614	1	no_errors	ENST00000328472	ensembl	human	known	74_37	missense	SNP	0.974	A	A	63659614	G	A	63659614	3	1	71	1	0	0	0	0	1	0	0	0	10439	1145	40	1	411	1	NKAIN3	8	63659614	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		63659614	82704408	15	3856											
C9orf41	138199	genome.wustl.edu	37	chr9	77611400	77611400	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccacctggcttgagtattttCcatattgtatcaatataatc	5	9	1	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr9:77611400C>G	ENST00000376834.3	-	6	1139	c.987G>C	c.(985-987)tgG>tgC	p.W329C	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	329										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TGAGTATTTTCCATATTGTAT	0.294																																																	0								ENSG00000156017						90	93	92					9																	77611400		2203	4290	6493	C9orf41	SO:0001583	missense	0			-	HGNC	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.987G>C	9.37:g.77611400C>G	ENSP00000366030:p.Trp329Cys	Somatic	0	49	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	484	18.21	Q7Z383|Q8N7C5	Missense_Mutation	SNP							pfam_N2227	p.W329C	ENST00000376834.3	37	c.987	CCDS6649.1	9	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703999	0.68501	.	.	ENSG00000156017	ENST00000376834	T	0.03801	3.8	5.67	4.77	0.60923	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	M	0.63843	1.955	0.80722	D	1	P	0.52061	0.95	P	0.58130	0.833	T	0.00819	-1.1553	10	0.41790	T	0.15	-5.6822	15.7033	0.77558	0.138:0.862:0.0:0.0	.	329	Q8N4J0	CI041_HUMAN	C	329	ENSP00000366030:W329C	ENSP00000366030:W329C	W	-	3	0	C9orf41	76801220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.431000	0.80335	1.394000	0.46624	0.650000	0.86243	TGG	-	pfam_N2227		0.294	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf41	protein_coding	OTTHUMT00000052703.1	C	NM_152420	-		77611400	-1	no_errors	ENST00000376834	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77611400	C	G	77611400	3	3	71	1	0	0	0	0	1	0	0	0	2484	856	30	4	254	4	C9orf41	9	77611400	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09		77611400	63602031	16	3857			1	48		2	2	42	C		4.767828e-05
C9orf41	138199	genome.wustl.edu	37	chr9	77611441	77611441	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattacattgtgagctgtgtCtatgaagaaacaggtagcaa	10	5	1	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr9:77611441C>G	ENST00000376834.3	-	6	1098	c.946G>C	c.(946-948)Gac>Cac	p.D316H	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	316										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TGAGCTGTGTCTATGAAGAAA	0.284																																																	0								ENSG00000156017						91	96	94					9																	77611441		2203	4292	6495	C9orf41	SO:0001583	missense	0			-	HGNC	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.946G>C	9.37:g.77611441C>G	ENSP00000366030:p.Asp316His	Somatic	0	54	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	87	454	16.08	Q7Z383|Q8N7C5	Missense_Mutation	SNP							pfam_N2227	p.D316H	ENST00000376834.3	37	c.946	CCDS6649.1	9	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776274	0.90195	.	.	ENSG00000156017	ENST00000376834	T	0.03181	4.02	5.67	5.67	0.87782	N2227-like (1);	0.097766	0.64402	D	0.000002	T	0.27205	0.0667	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08106	-1.0738	10	0.87932	D	0	-15.9196	19.3831	0.94545	0.0:1.0:0.0:0.0	.	316	Q8N4J0	CI041_HUMAN	H	316	ENSP00000366030:D316H	ENSP00000366030:D316H	D	-	1	0	C9orf41	76801261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.689000	0.91719	0.650000	0.86243	GAC	-	pfam_N2227		0.284	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf41	protein_coding	OTTHUMT00000052703.1	C	NM_152420	-		77611441	-1	no_errors	ENST00000376834	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77611441	C	G	77611441	3	3	71	1	0	0	0	0	1	0	0	0	2484	913	32	4	295	4	C9orf41	9	77611441	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	41	77611441	63601990	17	3858			1	48		2	2	42	C		4.767828e-05
DHDPSL	112817	genome.wustl.edu	37	chr10	99361669	99361669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggctcaggtgtgccaGctggagcgactgtgctgcac	17	11	1	0			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr10:99361669G>T	ENST00000370646.4	+	6	1117	c.756G>T	c.(754-756)caG>caT	p.Q252H	PI4K2A_ENST00000555577.1_Missense_Mutation_p.Q89H|PI4K2A_ENST00000370649.3_Missense_Mutation_p.Q89H|HOGA1_ENST00000370647.4_Missense_Mutation_p.Q89H	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	252					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						AGGTGTGCCAGCTGGAGCGAC	0.652																																																	0								ENSG00000155252						36	35	36					10																	99361669		2203	4300	6503	PI4K2A	SO:0001583	missense	0			-	HGNC	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.756G>T	10.37:g.99361669G>T	ENSP00000359680:p.Gln252His	Somatic	0	33	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom	p.Q89H	ENST00000370646.4	37	c.267	CCDS7467.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.725376|2.725376	0.48833|0.48833	.|.	.|.	ENSG00000241935|ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967	ENST00000370642|ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649	.|D;D;D;D	.|0.94376	.|-3.41;-3.41;-2.13;-2.13	5.07|5.07	4.17|4.17	0.49024|0.49024	.|Aldolase-type TIM barrel (1);	.|0.053822	.|0.64402	.|D	.|0.000001	D|D	0.90717|0.90717	0.7087|0.7087	L|L	0.28400|0.28400	0.85|0.85	0.39736|0.39736	D|D	0.971689|0.971689	.|P;B;B	.|0.45396	.|0.857;0.274;0.02	.|P;B;B	.|0.49301	.|0.606;0.054;0.008	D|D	0.90670|0.90670	0.4597|0.4597	5|10	.|0.56958	.|D	.|0.05	-14.6721|-14.6721	10.1823|10.1823	0.42975|0.42975	0.154:0.0:0.846:0.0|0.154:0.0:0.846:0.0	.|.	.|89;89;252	.|E9PAM4;Q86XE5-3;Q86XE5	.|.;.;HOGA1_HUMAN	S|H	56|89;252;89;89	.|ENSP00000359681:Q89H;ENSP00000359680:Q252H;ENSP00000452243:Q89H;ENSP00000359683:Q89H	.|ENSP00000359680:Q252H	A|Q	+|+	1|3	0|2	HOGA1|PI4K2A;HOGA1;RP11-548K23.11	99351659|99351659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.413000|4.413000	0.59795|0.59795	1.274000|1.274000	0.44362|0.44362	0.561000|0.561000	0.74099|0.74099	GCT|CAG	-	NULL		0.652	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	protein_coding	OTTHUMT00000049726.1	G	NM_138413	-		99361669	1	no_errors	ENST00000555577	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99361669	G	T	99361669	3	4	71	1	0	0	0	0	1	0	0	0	4482	962	34	3	778	3	DHDPSL	10	99361669	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		99361669	36173078	18	3859											
PGA5	5222	genome.wustl.edu	37	chr11	61017218	61017218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggcacctctctgctgaCcggcccaaccagccccattg	8	20	1	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr11:61017218C>T	ENST00000312403.5	+	7	1036	c.851C>T	c.(850-852)aCc>aTc	p.T284I	PGA5_ENST00000541528.1_Missense_Mutation_p.T24I|PGA4_ENST00000422676.2_Missense_Mutation_p.T284I|CTD-2331C18.5_ENST00000537594.1_RNA|PGA5_ENST00000451616.2_Missense_Mutation_p.T130I	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	284					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						TCTCTGCTGACCGGCCCAACC	0.592																																																	0								ENSG00000256713						125	129	127					11																	61017218		2202	4297	6499	PGA5	SO:0001583	missense	0			-	HGNC	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.851C>T	11.37:g.61017218C>T	ENSP00000309542:p.Thr284Ile	Somatic	0	68	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP							pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.T284I	ENST00000312403.5	37	c.851	CCDS8001.1	11	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968571	0.34754	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000537359;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	2.91	-1.36	0.09085	.	1.093690	0.07037	N	0.829508	T	0.46619	0.1402	N	0.25426	0.745	0.09310	N	1	B	0.21225	0.053	B	0.37731	0.257	T	0.50118	-0.8865	10	0.26408	T	0.33	.	5.543	0.17049	0.0:0.5937:0.1432:0.2631	.	284	B7ZW62	.	I	284;284;241;143;130;24	ENSP00000395402:T284I;ENSP00000309542:T284I;ENSP00000408739:T130I;ENSP00000441981:T24I	ENSP00000395402:T284I	T	+	2	0	PGA4;PGA5	60773794	0.035000	0.19736	0.007000	0.13788	0.883000	0.51084	2.498000	0.45363	-0.258000	0.09446	0.420000	0.28162	ACC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase		0.592	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA5	protein_coding	OTTHUMT00000397972.1	C	NM_014224	-		61017218	1	no_errors	ENST00000312403	ensembl	human	known	74_37	missense	SNP	0.087	T	T	61017218	C	T	61017218	3	4	71	1	0	0	0	0	1	0	0	0	11774	507	18	2	877	2	PGA5	11	61017218	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09		61017218	73989298	19	3860											
TMEM25	84866	genome.wustl.edu	37	chr11	118403122	118403122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagctcaactgctctctgCaggaccccagaagtggccga	11	13	2	2			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr11:118403122C>A	ENST00000313236.5	+	3	381	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	TMEM25_ENST00000524725.1_Missense_Mutation_p.Q110K|TMEM25_ENST00000544878.1_Missense_Mutation_p.Q110K|TMEM25_ENST00000533102.1_Missense_Mutation_p.Q110K|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.Q110K|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000359862.4_Missense_Mutation_p.Q110K|TMEM25_ENST00000411589.2_Missense_Mutation_p.Q110K|TMEM25_ENST00000442938.2_Missense_Mutation_p.Q110K|TMEM25_ENST00000354064.7_Intron|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	110	Ig-like.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CTGCTCTCTGCAGGACCCCAG	0.602																																																	0								ENSG00000149582						73	73	73					11																	118403122		2200	4295	6495	TMEM25	SO:0001583	missense	0			-	HGNC	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.328C>A	11.37:g.118403122C>A	ENSP00000315635:p.Gln110Lys	Somatic	0	29	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP							pfam_CD80_C2-set,pfscan_Ig-like_dom	p.Q110K	ENST00000313236.5	37	c.328	CCDS8398.1	11	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723780	0.68959	.	.	ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533137;ENST00000532762;ENST00000533102;ENST00000313236;ENST00000524725;ENST00000533689	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.31	4.38	0.52667	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499360	0.21032	N	0.081328	T	0.64427	0.2597	N	0.24115	0.695	0.23559	N	0.997413	B;P;B;P;P;P;P;B	0.52170	0.001;0.951;0.0;0.6;0.545;0.94;0.943;0.001	B;P;B;B;B;P;P;B	0.51615	0.003;0.675;0.002;0.296;0.196;0.546;0.506;0.002	T	0.56463	-0.7975	10	0.02654	T	1	-7.1141	10.8942	0.47012	0.341:0.659:0.0:0.0	.	110;110;110;110;110;110;110;110	F5H294;Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-2	.;TMM25_HUMAN;.;.;.;.;.;.	K	110;110;110;110;110;110;78;110;110;110;110;110	ENSP00000411882:Q110K;ENSP00000416071:Q110K;ENSP00000352924:Q110K;ENSP00000432040:Q110K;ENSP00000439408:Q110K;ENSP00000346237:Q110K;ENSP00000433938:Q78K;ENSP00000433906:Q110K;ENSP00000431548:Q110K;ENSP00000315635:Q110K;ENSP00000431205:Q110K;ENSP00000436746:Q110K	ENSP00000315635:Q110K	Q	+	1	0	TMEM25	117908332	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.997000	0.29731	1.178000	0.42870	0.561000	0.74099	CAG	-	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.602	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM25	protein_coding	OTTHUMT00000389266.1	C	NM_032780	-		118403122	1	no_errors	ENST00000533102	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118403122	C	A	118403122	3	1	71	1	0	0	0	0	1	0	0	0	16157	711	25	3	334	3	TMEM25	11	118403122	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	57385904	118403122	16603394	20	3861											
PTPRO	5800	genome.wustl.edu	37	chr12	15704508	15704508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagatgaatcccaatgtgGtagtgatctccgtgctggcc	12	10	1	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr12:15704508G>T	ENST00000281171.4	+	15	2791	c.2461G>T	c.(2461-2463)Gta>Tta	p.V821L	PTPRO_ENST00000445537.2_Missense_Mutation_p.V10L|PTPRO_ENST00000442921.2_Missense_Mutation_p.V10L|PTPRO_ENST00000544244.1_Missense_Mutation_p.V10L|PTPRO_ENST00000348962.2_Missense_Mutation_p.V821L|PTPRO_ENST00000542557.1_Missense_Mutation_p.V10L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	821					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCCCAATGTGGTAGTGATCTC	0.403																																																	0								ENSG00000151490						271	239	250					12																	15704508		2203	4300	6503	PTPRO	SO:0001583	missense	0			-	HGNC	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2461G>T	12.37:g.15704508G>T	ENSP00000281171:p.Val821Leu	Somatic	0	65	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V821L	ENST00000281171.4	37	c.2461	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564913	0.65651	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.04406	3.81;3.8;3.63;3.74;3.63;3.74	5.2	5.2	0.72013	.	0.157339	0.29159	N	0.012969	T	0.04227	0.0117	N	0.14661	0.345	0.44834	D	0.997846	B;B;B	0.29037	0.231;0.012;0.007	B;B;B	0.22386	0.039;0.016;0.005	T	0.54853	-0.8231	10	0.34782	T	0.22	.	18.921	0.92525	0.0:0.0:1.0:0.0	.	10;821;821	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	L	821;821;10;10;10;10	ENSP00000281171:V821L;ENSP00000343434:V821L;ENSP00000404188:V10L;ENSP00000437571:V10L;ENSP00000393449:V10L;ENSP00000439234:V10L	ENSP00000281171:V821L	V	+	1	0	PTPRO	15595775	1.000000	0.71417	0.883000	0.34634	0.993000	0.82548	6.797000	0.75150	2.693000	0.91896	0.563000	0.77884	GTA	-	NULL		0.403	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	protein_coding	OTTHUMT00000401079.1	G		-		15704508	1	no_errors	ENST00000281171	ensembl	human	known	74_37	missense	SNP	0.998	T	T	15704508	G	T	15704508	3	4	71	1	0	0	0	0	1	0	0	0	12817	1261	44	3	2519	3	PTPRO	12	15704508	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		15704508	118147387	21	3862											
KRT81	3887	genome.wustl.edu	37	chr12	52681806	52681806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcctcggcccggctgcGggtgacaatgtcgtcatact	13	14	1	1	rs144716678	byFrequency	TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr12:52681806G>A	ENST00000327741.5	-	5	930	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	288	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCGGCTGCGGGTGACAATG	0.572													.|||	3	0.000599042	0	0	5008	,	,		20689	0		0	False		,,,				2504	0.0031																0								ENSG00000205426	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	98	105		862	3.5	1	12	dbSNP_134	105	4,8596	3.7+/-12.6	0,4,4296	no	missense	KRT81	NM_002281.3	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging	288/506	52681806	5,13001	2203	4300	6503	KRT81	SO:0001583	missense	0			-	HGNC	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.862C>T	12.37:g.52681806G>A	ENSP00000369349:p.Arg288Cys	Somatic	0	54	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R288C	ENST00000327741.5	37	c.862	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539428	0.45176	2.27E-4	4.65E-4	ENSG00000205426	ENST00000327741;ENST00000389388	T	0.75821	-0.97	4.48	3.55	0.40652	Filament (1);	0.000000	0.42053	U	0.000779	T	0.74801	0.3764	M	0.83774	2.66	0.44807	D	0.99781	P	0.36633	0.562	B	0.36186	0.219	T	0.80108	-0.1520	10	0.72032	D	0.01	.	11.8153	0.52207	0.0:0.0:0.6857:0.3143	.	288	Q14533	KRT81_HUMAN	C	288	ENSP00000369349:R288C	ENSP00000369349:R288C	R	-	1	0	KRT81	50968073	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	1.881000	0.39638	2.052000	0.61016	0.556000	0.70494	CGC	-	pfam_IF,superfamily_Prefoldin		0.572	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	protein_coding	OTTHUMT00000395128.2	G	NM_002281	rs144716678		52681806	-1	no_errors	ENST00000327741	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52681806	G	A	52681806	3	1	71	1	0	0	0	0	1	0	0	0	8497	1116	39	1	675	1	KRT81	12	52681806	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	36977298	52681806	81170089	22	3863											
TRHDE	29953	genome.wustl.edu	37	chr12	73014948	73014948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtggccgaaaaataatTttaatggatctcttgttcaa	9	5	2	0			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr12:73014948T>C	ENST00000261180.4	+	14	2491	c.2395T>C	c.(2395-2397)Ttt>Ctt	p.F799L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	799					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAAAATAATTTTAATGGATC	0.318																																																	0								ENSG00000072657						110	102	105					12																	73014948		2203	4299	6502	TRHDE	SO:0001583	missense	0			-	HGNC	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2395T>C	12.37:g.73014948T>C	ENSP00000261180:p.Phe799Leu	Somatic	0	47	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	335	15.40	A5PL19|Q6UWJ4	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F799L	ENST00000261180.4	37	c.2395	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	T	8.544	0.873999	0.17395	.	.	ENSG00000072657	ENST00000261180	T	0.05855	3.38	5.64	4.5	0.54988	.	0.394831	0.28425	N	0.015390	T	0.02418	0.0074	N	0.02539	-0.55	0.26427	N	0.976001	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	10	0.27785	T	0.31	.	5.7766	0.18283	0.0:0.143:0.1422:0.7148	.	799	Q9UKU6	TRHDE_HUMAN	L	799	ENSP00000261180:F799L	ENSP00000261180:F799L	F	+	1	0	TRHDE	71301215	0.999000	0.42202	0.999000	0.59377	0.251000	0.25915	1.009000	0.29886	1.077000	0.40990	-0.263000	0.10527	TTT	-	NULL		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	protein_coding	OTTHUMT00000405380.1	T	NM_013381	-		73014948	1	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	SNP	0.981	C	C	73014948	T	C	73014948	3	2	71	1	0	0	0	0	1	0	0	0	16486	1841	64	5	2449	5	TRHDE	12	73014948	Missense_Mutation	SNP	T	TCGA-DX-A6BE-01A-41D-A32I-09	20333142	73014948	60836947	23	3864											
SYT1	6857	genome.wustl.edu	37	chr12	79611315	79611315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctaaaatggtgagcgagagtCaccatgaggccctggcagcc	13	11	1	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr12:79611315C>T	ENST00000261205.4	+	4	673	c.16C>T	c.(16-18)Cac>Tac	p.H6Y	SYT1_ENST00000552744.1_Missense_Mutation_p.H6Y|SYT1_ENST00000393240.3_Missense_Mutation_p.H6Y|SYT1_ENST00000457153.2_Missense_Mutation_p.H6Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	6					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						GAGCGAGAGTCACCATGAGGC	0.542																																																	0								ENSG00000067715						42	42	42					12																	79611315		2203	4300	6503	SYT1	SO:0001583	missense	0			-	HGNC		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.16C>T	12.37:g.79611315C>T	ENSP00000261205:p.His6Tyr	Somatic	0	22	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	Q6AI31	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.H6Y	ENST00000261205.4	37	c.16	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411995	0.62511	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.58797	0.32;0.32;0.31;0.32;1.96;2.54	5.51	5.51	0.81932	.	0.275440	0.40469	N	0.001082	T	0.49626	0.1568	L	0.29908	0.895	0.38538	D	0.949135	B;B	0.16603	0.018;0.018	B;B	0.12156	0.007;0.007	T	0.44236	-0.9341	10	0.39692	T	0.17	.	19.4105	0.94670	0.0:1.0:0.0:0.0	.	6;6	Q6AI31;P21579	.;SYT1_HUMAN	Y	6	ENSP00000376932:H6Y;ENSP00000261205:H6Y;ENSP00000391056:H6Y;ENSP00000447575:H6Y;ENSP00000448861:H6Y;ENSP00000401559:H6Y	ENSP00000261205:H6Y	H	+	1	0	SYT1	78135446	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.054000	0.76649	2.583000	0.87209	0.643000	0.83706	CAC	-	NULL		0.542	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	protein_coding	OTTHUMT00000259415.1	C	NM_005639	-		79611315	1	no_errors	ENST00000261205	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79611315	C	T	79611315	3	4	71	1	0	0	0	0	1	0	0	0	15472	826	29	2	18	2	SYT1	12	79611315	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	6596367	79611315	54240580	24	3865											
SLC12A6	9990	genome.wustl.edu	37	chr15	34553189	34553189	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcataattggaattattgaGataagcatttcgagctttct	7	5	2	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr15:34553189G>T	ENST00000354181.3	-	4	841	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000397702.2_Missense_Mutation_p.L58I|SLC12A6_ENST00000558589.1_Missense_Mutation_p.L108I|SLC12A6_ENST00000458406.2_Missense_Mutation_p.L58I|SLC12A6_ENST00000558667.1_Missense_Mutation_p.L117I|SLC12A6_ENST00000560611.1_Missense_Mutation_p.L117I|SLC12A6_ENST00000290209.5_Missense_Mutation_p.L66I|SLC12A6_ENST00000397707.2_Missense_Mutation_p.L102I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	117					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GAATTATTGAGATAAGCATTT	0.348																																																	0								ENSG00000140199						68	73	72					15																	34553189		2201	4298	6499	SLC12A6	SO:0001583	missense	0			-	HGNC	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.349C>A	15.37:g.34553189G>T	ENSP00000346112:p.Leu117Ile	Somatic	0	23	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L108I	ENST00000354181.3	37	c.322	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	G	5.657	0.305885	0.10733	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.83075	-1.67;-1.67;-1.68;-1.68	5.09	5.09	0.68999	.	0.161370	0.42964	D	0.000640	T	0.65502	0.2697	N	0.04746	-0.17	0.80722	D	1	B;B;B	0.17038	0.0;0.02;0.0	B;B;B	0.14578	0.003;0.011;0.001	T	0.62992	-0.6736	10	0.06365	T	0.9	.	17.4339	0.87546	0.0:0.0:1.0:0.0	.	102;117;66	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	I	66;102;108;58;58	ENSP00000290209:L66I;ENSP00000380819:L102I;ENSP00000380814:L58I;ENSP00000387725:L58I	ENSP00000290209:L66I	L	-	1	0	SLC12A6	32340481	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.381000	0.66208	2.648000	0.89879	0.563000	0.77884	CTC	-	tigrfam_Na/K/Cl_cotransptS		0.348	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	protein_coding	OTTHUMT00000417991.1	G	NM_005135	-		34553189	-1	no_errors	ENST00000558589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34553189	G	T	34553189	3	4	71	1	0	0	0	0	1	0	0	0	14395	942	33	3	3195	3	SLC12A6	15	34553189	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		34553189	67978203	25	3866											
COX4NB	10328	genome.wustl.edu	37	chr16	85813472	85813472	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggccagtcttcacagtagtCactacgggtcaaacatgaag	10	10	4	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr16:85813472C>A	ENST00000253457.3	-	5	719	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	EMC8_ENST00000435200.2_Splice_Site_p.*127L|RNU1-103P_ENST00000516502.1_RNA	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	159						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCACAGTAGTCACTACGGGTC	0.527																																																	0								ENSG00000131148						58	53	55					16																	85813472		2198	4300	6498	EMC8	SO:0001630	splice_region_variant	0			-	HGNC	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"family with sequence similarity 158, member B"	604886	"chromosome 16 open reading frame 4", "neighbor of COX4", "chromosome 16 open reading frame 2", "COX4 neighbor"	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.474-1G>T	16.37:g.85813472C>A		Somatic	0	22	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	C9JB21	Missense_Mutation	SNP							pfam_UPF0172	p.D159Y	ENST00000253457.3	37	c.475	CCDS10954.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.737858|2.737858	0.49045|0.49045	.|.	.|.	ENSG00000131148|ENSG00000131148	ENST00000253457|ENST00000435200	T|.	0.44482|.	0.92|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55146|.	0.1902|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|.	0.49960|.	-0.8883|.	9|.	0.59425|.	D|.	0.04|.	-32.5456|-32.5456	18.8005|18.8005	0.92015|0.92015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	159|.	O43402|.	CX4NB_HUMAN|.	Y|L	159|127	ENSP00000253457:D159Y|.	ENSP00000253457:D159Y|.	D|X	-|-	1|2	0|2	COX4NB|COX4NB	84370973|84370973	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.645000|0.645000	0.38454|0.38454	7.380000|7.380000	0.79704|0.79704	2.435000|2.435000	0.82474|0.82474	0.561000|0.561000	0.74099|0.74099	GAC|TGA	-	pfam_UPF0172		0.527	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC8	protein_coding	OTTHUMT00000269099.1	C	NM_006067	-	Missense_Mutation	85813472	-1	no_errors	ENST00000253457	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85813472	C	A	85813472	5	1	71	1	0	0	0	0	0	0	1	0	3773	840	29	3	161	3	COX4NB	16	85813472	Splice_Site	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09		85813472	4541281	26	3867											
SLC16A13	201232	genome.wustl.edu	37	chr17	6943237	6943237	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accttgtaacagaagcactaGatactaaagttcccctaccc	5	13	0	2			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr17:6943237G>C	ENST00000308027.6	+	4	1545	c.1237G>C	c.(1237-1239)Gat>Cat	p.D413H		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	413						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGAAGCACTAGATACTAAAGT	0.537																																																	0								ENSG00000174327						124	132	130					17																	6943237		2203	4300	6503	SLC16A13	SO:0001583	missense	0			-	HGNC	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.1237G>C	17.37:g.6943237G>C	ENSP00000309751:p.Asp413His	Somatic	0	28	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	16	65.22	A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP							pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D413H	ENST00000308027.6	37	c.1237	CCDS11085.1	17	.	.	.	.	.	.	.	.	.	.	G	7.373	0.627196	0.14257	.	.	ENSG00000174327	ENST00000308027	T	0.09538	2.97	5.97	3.95	0.45737	.	1.213990	0.05842	N	0.619584	T	0.09379	0.0231	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33599	-0.9862	10	0.62326	D	0.03	.	8.4654	0.32953	0.0818:0.1536:0.7646:0.0	.	413	Q7RTY0	MOT13_HUMAN	H	413	ENSP00000309751:D413H	ENSP00000309751:D413H	D	+	1	0	SLC16A13	6883961	0.864000	0.29904	0.005000	0.12908	0.004000	0.04260	3.966000	0.56795	0.829000	0.34733	0.655000	0.94253	GAT	-	NULL		0.537	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	protein_coding	OTTHUMT00000219923.2	G		-		6943237	1	no_errors	ENST00000308027	ensembl	human	known	74_37	missense	SNP	0.005	C	C	6943237	G	C	6943237	3	2	71	1	0	0	0	0	1	0	0	0	14414	942	33	4	1251	4	SLC16A13	17	6943237	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		6943237	74251973	27	3868											
EFTUD2	9343	genome.wustl.edu	37	chr17	42962623	42962623	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaaaccttgtaacttaCtccatctcatacaccgtaac	4	13	1	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr17:42962623C>T	ENST00000426333.2	-	4	648		c.e4+1		EFTUD2_ENST00000591382.1_Splice_Site|EFTUD2_ENST00000589211.1_5'Flank|EFTUD2_ENST00000592576.1_Splice_Site|RN7SL405P_ENST00000582502.1_RNA|EFTUD2_ENST00000402521.3_Splice_Site	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2						gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGTAACTTACTCCATCTCAT	0.388																																					Ovarian(10;65 485 10258 29980 30707)												0								ENSG00000108883						228	224	225					17																	42962623		2203	4300	6503	EFTUD2	SO:0001630	splice_region_variant	0			-	HGNC	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.350+1G>A	17.37:g.42962623C>T		Somatic	0	45	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Splice_Site	SNP							-	e3+1	ENST00000426333.2	37	c.350+1	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372953	0.61624	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6363	0.95735	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFTUD2	40318149	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	7.336000	0.79245	2.648000	0.89879	0.585000	0.79938	.	-	-		0.388	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	protein_coding	OTTHUMT00000448672.1	C	NM_004247	-	Intron	42962623	-1	no_errors	ENST00000426333	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	42962623	C	T	42962623	5	4	71	1	0	0	0	0	0	0	1	0	4963	579	20	2	2667	2	EFTUD2	17	42962623	Splice_Site	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	36019386	42962623	38232587	28	3869											
HOXB6	3216	genome.wustl.edu	37	chr17	46675273	46675273	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgactctttctcgcggtaGaaggccggcgccggcccgta	14	15	2	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr17:46675273G>A	ENST00000484302.2	-	2	862	c.240C>T	c.(238-240)ttC>ttT	p.F80F	HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB6_ENST00000225648.3_Silent_p.F80F|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000474040.1_RNA			P17509	HXB6_HUMAN	homeobox B6	80					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCTCGCGGTAGAAGGCCGGCG	0.726																																																	0								ENSG00000108511						5	6	6					17																	46675273		2132	4143	6275	HOXB6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"Homeoboxes / ANTP class : HOXL subclass"	5117	protein-coding gene	gene with protein product		142961	"homeo box B6"	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.240C>T	17.37:g.46675273G>A		Somatic	0	37	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.F80	ENST00000484302.2	37	c.240	CCDS11531.1	17																																																																																			-	NULL		0.726	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB6	protein_coding	OTTHUMT00000358146.2	G		-		46675273	-1	no_errors	ENST00000225648	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46675273	G	A	46675273	2	1	71	1	0	0	0	0	0	0	0	1	7307	933	33	2		2	HOXB6	17	46675273	Silent	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09	3712650	46675273	34519937	29	3870											
SCN4A	6329	genome.wustl.edu	37	chr17	62049824	62049824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccttgttgagtacgaTgaaggtctaaggtgggagag	15	6	1	3			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr17:62049824T>C	ENST00000435607.1	-	2	356	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	SCN4A_ENST00000578147.1_Missense_Mutation_p.I94V|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	94					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGAGTACGATGAAGGTCTAA	0.597																																																	0								ENSG00000007314						71	78	75					17																	62049824		2180	4272	6452	SCN4A	SO:0001583	missense	0			-	HGNC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.280A>G	17.37:g.62049824T>C	ENSP00000396320:p.Ile94Val	Somatic	0	51	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	56	15.15	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.I94V	ENST00000435607.1	37	c.280	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676696	0.47886	.	.	ENSG00000007314	ENST00000435607	D	0.96073	-3.9	4.23	4.23	0.50019	.	0.104015	0.64402	D	0.000005	D	0.92756	0.7697	L	0.45581	1.43	0.42896	D	0.994217	P	0.37612	0.602	B	0.38954	0.286	D	0.91735	0.5399	10	0.33940	T	0.23	.	12.6526	0.56770	0.0:0.0:0.0:1.0	.	94	P35499	SCN4A_HUMAN	V	94	ENSP00000396320:I94V	ENSP00000396320:I94V	I	-	1	0	SCN4A	59403556	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.740000	0.47418	1.777000	0.52277	0.260000	0.18958	ATC	-	NULL		0.597	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		T	NM_000334	-		62049824	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62049824	T	C	62049824	3	2	71	1	0	0	0	0	1	0	0	0	13928	1464	51	5	5322	5	SCN4A	17	62049824	Missense_Mutation	SNP	T	TCGA-DX-A6BE-01A-41D-A32I-09	15374551	62049824	19145386	30	3871											
NDUFA7	4701	genome.wustl.edu	37	chr19	8386199	8386199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgccccgcgcaccccggacGcccagttccgcagccgctgg	12	22	0	0			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr19:8386199G>T	ENST00000301457.2	-	1	81	c.44C>A	c.(43-45)gCg>gAg	p.A15E	RPS28_ENST00000600659.2_5'Flank|NDUFA7_ENST00000598884.1_Missense_Mutation_p.A15E	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	15					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						CACCCCGGACGCCCAGTTCCG	0.716																																																	0								ENSG00000267855						5	9	8					19																	8386199		1855	4007	5862	NDUFA7	SO:0001583	missense	0			-	HGNC	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.44C>A	19.37:g.8386199G>T	ENSP00000301457:p.Ala15Glu	Somatic	0	25	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77		Missense_Mutation	SNP							pfam_NADH-UbQ_OxRdtase_B14.5a_su	p.A15E	ENST00000301457.2	37	c.44	CCDS42492.1	19	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435192	0.62955	.	.	ENSG00000167774	ENST00000301457	T	0.45276	0.9	5.54	4.51	0.55191	.	0.166015	0.41823	D	0.000817	T	0.37785	0.1016	L	0.40543	1.245	0.30085	N	0.808798	P	0.37038	0.579	B	0.41332	0.354	T	0.46205	-0.9208	10	0.72032	D	0.01	-5.6882	10.1648	0.42873	0.1583:0.0:0.8417:0.0	.	15	O95182	NDUA7_HUMAN	E	15	ENSP00000301457:A15E	ENSP00000301457:A15E	A	-	2	0	NDUFA7	8292199	0.495000	0.26051	0.888000	0.34837	0.310000	0.27922	3.319000	0.51983	1.584000	0.49913	0.655000	0.94253	GCG	-	pfam_NADH-UbQ_OxRdtase_B14.5a_su		0.716	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA7	protein_coding	OTTHUMT00000461373.1	G	NM_005001	-		8386199	-1	no_errors	ENST00000301457	ensembl	human	known	74_37	missense	SNP	0.759	T	T	8386199	G	T	8386199	3	4	71	1	0	0	0	0	1	0	0	0	10272	1087	38	3	313	3	NDUFA7	19	8386199	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		8386199	50742784	31	3872											
MARCH2	51257	genome.wustl.edu	37	chr19	8495621	8495621	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgttcatcacaccgcTggccgccatctcaggctggt	9	15	3	0			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr19:8495621T>A	ENST00000602117.1	+	4	907	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.L151Q|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.L151Q|RP11-886P16.6_ENST00000595706.1_RNA			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	151					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						ATCACACCGCTGGCCGCCATC	0.672																																																	0								ENSG00000099785						107	89	95					19																	8495621		2203	4300	6503	MARCH2	SO:0001583	missense	0			-	HGNC	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.452T>A	19.37:g.8495621T>A	ENSP00000471536:p.Leu151Gln	Somatic	0	44	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.L151Q	ENST00000602117.1	37	c.452	CCDS12202.1	19	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507307	0.85282	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.23552	1.9;1.9	4.26	4.26	0.50523	.	0.087235	0.47455	D	0.000223	T	0.52092	0.1713	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.60742	-0.7203	10	0.87932	D	0	-12.4912	12.6155	0.56573	0.0:0.0:0.0:1.0	.	151	Q9P0N8	MARH2_HUMAN	Q	151	ENSP00000377518:L151Q;ENSP00000215555:L151Q	ENSP00000215555:L151Q	L	+	2	0	MARCH2	8401621	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	7.817000	0.86213	1.915000	0.55452	0.368000	0.22195	CTG	-	NULL		0.672	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	protein_coding	OTTHUMT00000460361.2	T	NM_016496	-		8495621	1	no_errors	ENST00000215555	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8495621	T	A	8495621	3	1	71	1	0	0	0	0	1	0	0	0	9303	1580	55	5	462	5	MARCH2	19	8495621	Missense_Mutation	SNP	T	TCGA-DX-A6BE-01A-41D-A32I-09	109422	8495621	50633362	32	3873											
OLFM2	93145	genome.wustl.edu	37	chr19	9968504	9968504	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcgcgatacgtccgcaactCaaggacctccatggactggg	12	13	1	0			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr19:9968504C>G	ENST00000264833.4	-	3	432	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	OLFM2_ENST00000590841.1_Missense_Mutation_p.E5Q	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	83					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCGCAACTCAAGGACCTCC	0.612																																																	0								ENSG00000105088						80	70	73					19																	9968504		2203	4300	6503	OLFM2	SO:0001583	missense	0			-	HGNC	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.247G>C	19.37:g.9968504C>G	ENSP00000264833:p.Glu83Gln	Somatic	0	48	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	421	15.74	Q6IMJ3|Q96FC2	Missense_Mutation	SNP							pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.E83Q	ENST00000264833.4	37	c.247	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	c	14.09	2.431016	0.43122	.	.	ENSG00000105088	ENST00000264833	T	0.46063	0.88	3.91	3.91	0.45181	.	0.060593	0.64402	D	0.000005	T	0.29223	0.0727	N	0.22421	0.69	0.35252	D	0.77878	P	0.38788	0.647	B	0.38156	0.266	T	0.39099	-0.9630	9	.	.	.	.	13.4645	0.61245	0.0:1.0:0.0:0.0	.	83	O95897	NOE2_HUMAN	Q	83	ENSP00000264833:E83Q	.	E	-	1	0	OLFM2	9829504	0.997000	0.39634	1.000000	0.80357	0.476000	0.33039	1.823000	0.39062	2.021000	0.59480	0.306000	0.20318	GAG	-	pfam_Noelin-1		0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	protein_coding	OTTHUMT00000451119.1	C		-		9968504	-1	no_errors	ENST00000264833	ensembl	human	known	74_37	missense	SNP	1.000	G	G	9968504	C	G	9968504	3	3	71	1	0	0	0	0	1	0	0	0	10855	835	29	4	1133	4	OLFM2	19	9968504	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09	1472883	9968504	49160479	33	3874											
DMWD	1762	genome.wustl.edu	37	chr19	46289542	46289544	+	In_Frame_Del	DEL	CTC	CTC	-													cctgtgcccgcagcctcgggCtcctcctcctcctcttcgcc							TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr19:46289542_46289544delCTC	ENST00000270223.6	-	3	1255_1257	c.1210_1212delGAG	c.(1210-1212)gagdel	p.E404del	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_In_Frame_Del_p.E404del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	404										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGCCTCGGGCTCCTCCTCCTCC	0.695																																																	0								ENSG00000185800																																			DMWD	SO:0001651	inframe_deletion	0				HGNC	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1210_1212delGAG	19.37:g.46289551_46289553delCTC	ENSP00000270223:p.Glu404del	Somatic	0	17	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33		In_Frame_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E404in_frame_del	ENST00000270223.6	37	c.1212_1210	CCDS33054.1	19																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.695	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DMWD	protein_coding	OTTHUMT00000402063.1	CTC	NM_004943			46289544	-1	no_errors	ENST00000270223	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	46289544	CTC	-	46289542	7	5	71	1	0	1	0	1	0	0	0	0	4595	796	28	0	824	0	DMWD	19	46289542	In_Frame_Del	DEL	CTC	TCGA-DX-A6BE-01A-41D-A32I-09	36321038	46289542	12839441	34	3875											
KIAA1755	85449	genome.wustl.edu	37	chr20	36859721	36859721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgcccggccctgtccCggccacctggaggacagagg	17	16	0	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chr20:36859721C>A	ENST00000279024.4	-	5	2025	c.1754G>T	c.(1753-1755)cGg>cTg	p.R585L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	585										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCCCTGTCCCGGCCACCTGG	0.632																																																	0								ENSG00000149633						33	34	34					20																	36859721		2202	4300	6502	KIAA1755	SO:0001583	missense	0			-	HGNC	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1754G>T	20.37:g.36859721C>A	ENSP00000279024:p.Arg585Leu	Somatic	0	37	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q9C0A8	Missense_Mutation	SNP							superfamily_CRAL-TRIO_dom	p.R585L	ENST00000279024.4	37	c.1754	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448015	0.63178	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.26223	1.75	4.97	2.89	0.33648	.	0.347822	0.20881	N	0.083986	T	0.49864	0.1582	M	0.88906	2.99	0.20307	N	0.999914	D	0.76494	0.999	D	0.69307	0.963	T	0.36866	-0.9730	10	0.72032	D	0.01	.	6.363	0.21439	0.0:0.6406:0.1698:0.1897	.	585	Q5JYT7	K1755_HUMAN	L	585;132	ENSP00000279024:R585L	ENSP00000279024:R585L	R	-	2	0	KIAA1755	36293135	0.413000	0.25400	0.945000	0.38365	0.862000	0.49288	1.977000	0.40589	1.307000	0.44944	0.655000	0.94253	CGG	-	superfamily_CRAL-TRIO_dom		0.632	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	protein_coding	OTTHUMT00000079144.3	C	NM_001029864	-		36859721	-1	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	SNP	0.131	A	A	36859721	C	A	36859721	3	1	71	1	0	0	0	0	1	0	0	0	8259	652	23	3	1888	3	KIAA1755	20	36859721	Missense_Mutation	SNP	C	TCGA-DX-A6BE-01A-41D-A32I-09		36859721	26165799	35	3876											
TIMP1	7076	genome.wustl.edu	37	chrX	47445973	47445973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagtggcactcattgcttGtggacggaccagctcctcca	11	13	1	1			TCGA-DX-A6BE-01A-41D-A32I-09	TCGA-DX-A6BE-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	406790e5-4047-4f74-86ed-6ce0c93069a3	33cfaab4-e272-46bf-9cf9-18bc3880eddf	g.chrX:47445973G>T	ENST00000218388.4	+	6	677	c.507G>T	c.(505-507)ttG>ttT	p.L169F	TIMP1_ENST00000377017.1_Missense_Mutation_p.L105F|MIR4769_ENST00000584126.1_RNA|SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	169					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						CTCATTGCTTGTGGACGGACC	0.607																																																	0								ENSG00000102265						137	103	115					X																	47445973		2203	4300	6503	TIMP1	SO:0001583	missense	0			-	HGNC		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.507G>T	X.37:g.47445973G>T	ENSP00000218388:p.Leu169Phe	Somatic	0	23	0		0.53128414361258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q14252|Q9UCU1	Missense_Mutation	SNP							pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.L169F	ENST00000218388.4	37	c.507	CCDS14281.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.624267|3.624267	0.66901|0.66901	.|.	.|.	ENSG00000102265|ENSG00000102265	ENST00000445623|ENST00000218388;ENST00000377017	.|D;D	.|0.94650	.|-3.48;-3.48	5.23|5.23	3.46|3.46	0.39613|0.39613	.|Tissue inhibitor of metalloproteinases-like, OB-fold (1);	.|0.000000	.|0.44688	.|D	.|0.000439	D|D	0.96611|0.96611	0.8894|0.8894	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.94686|0.94686	0.7870|0.7870	5|10	.|0.46703	.|T	.|0.11	.|.	7.382|7.382	0.26862|0.26862	0.2072:0.0:0.7928:0.0|0.2072:0.0:0.7928:0.0	.|.	.|169	.|P01033	.|TIMP1_HUMAN	F|F	127|169;105	.|ENSP00000218388:L169F;ENSP00000366216:L105F	.|ENSP00000218388:L169F	C|L	+|+	2|3	0|2	TIMP1|TIMP1	47330917|47330917	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.992000|0.992000	0.81027|0.81027	2.618000|2.618000	0.46393|0.46393	0.435000|0.435000	0.26365|0.26365	0.523000|0.523000	0.50628|0.50628	TGT|TTG	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP		0.607	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP1	protein_coding	OTTHUMT00000056423.1	G	NM_003254	-		47445973	1	no_errors	ENST00000218388	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47445973	G	T	47445973	3	4	71	1	0	0	0	0	1	0	0	0	15924	1368	48	3	525	3	TIMP1	23	47445973	Missense_Mutation	SNP	G	TCGA-DX-A6BE-01A-41D-A32I-09		47445973	107824587	36	3877											
MEGF6	1953	genome.wustl.edu	37	chr1	3418451	3418451	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccccacaggagcaggagctCgagcagttcacgccaaacgt	11	15	1	0	rs200439973	byFrequency	TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:3418451C>A	ENST00000356575.4	-	18	2449	c.2223G>T	c.(2221-2223)tcG>tcT	p.S741S	MEGF6_ENST00000294599.4_Silent_p.S636S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	741	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCAGGAGCTCGAGCAGTTCA	0.682																																					Ovarian(73;978 3658)												0								ENSG00000162591						23	32	29					1																	3418451		2000	4141	6141	MEGF6	SO:0001819	synonymous_variant	0			-	HGNC	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2223G>T	1.37:g.3418451C>A		Somatic	0	77	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	48	35.14	Q4AC86|Q5VV39	Silent	SNP							pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.S741	ENST00000356575.4	37	c.2223	CCDS41237.1	1																																																																																			-	smart_EG-like_dom		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	protein_coding	OTTHUMT00000354866.1	C	NM_001409	-		3418451	-1	no_errors	ENST00000356575	ensembl	human	known	74_37	silent	SNP	0.000	A	A	3418451	C	A	3418451	2	1	72	1	0	0	0	0	0	0	0	1	9464	871	31	3		3	MEGF6	1	3418451	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		3418451	245832170	1	3878											
APCS	325	genome.wustl.edu	37	chr1	159558150	159558150	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagttatcgaaaagttcccGgctccagtgcacatctgtgt	9	10	1	0	rs28383572	byFrequency	TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:159558150G>C	ENST00000255040.2	+	2	421	c.324G>C	c.(322-324)ccG>ccC	p.P108P		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	108	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AAAAGTTCCCGGCTCCAGTGC	0.433																																																	0								ENSG00000132703						81	82	82					1																	159558150		2203	4300	6503	APCS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.324G>C	1.37:g.159558150G>C		Somatic	0	164	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	143	16.37		Silent	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.P108	ENST00000255040.2	37	c.324	CCDS1186.1	1																																																																																			-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.433	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	protein_coding	OTTHUMT00000059024.2	G	NM_001639	-		159558150	1	no_errors	ENST00000255040	ensembl	human	known	74_37	silent	SNP	0.000	C	C	159558150	G	C	159558150	2	2	72	1	0	0	0	0	0	0	0	1	767	1103	39	4		4	APCS	1	159558150	Silent	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	156139699	159558150	89692471	2	3879											
TNR	7143	genome.wustl.edu	37	chr1	175372327	175372327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacagacgcagagcccctCctcacattgtcctcgcccac	6	19	2	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:175372327C>T	ENST00000367674.2	-	4	1633	c.925G>A	c.(925-927)Gag>Aag	p.E309K	TNR_ENST00000263525.2_Missense_Mutation_p.E309K			Q92752	TENR_HUMAN	tenascin R	309	Cys-rich.				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.E309K(1)		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)					CAGAGCCCCTCCTCACATTGT	0.607																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000116147						97	78	84					1																	175372327		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.925G>A	1.37:g.175372327C>T	ENSP00000356646:p.Glu309Lys	Somatic	0	43	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	42	59.22	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E309K	ENST00000367674.2	37	c.925	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781250	0.70222	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.03441	3.93;3.93	6.04	6.04	0.98038	EGF, extracellular (1);	0.059909	0.64402	D	0.000003	T	0.04227	0.0117	N	0.26042	0.785	0.42105	D	0.991354	P;P	0.37594	0.501;0.601	B;B	0.34038	0.081;0.174	T	0.57774	-0.7753	10	0.28530	T	0.3	.	20.1743	0.98175	0.0:1.0:0.0:0.0	.	309;309	B4DIX8;Q92752	.;TENR_HUMAN	K	309	ENSP00000356646:E309K;ENSP00000263525:E309K	ENSP00000263525:E309K	E	-	1	0	TNR	173638950	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.239000	0.51360	2.873000	0.98535	0.561000	0.74099	GAG	-	pfam_EGF_extracell,smart_EG-like_dom		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175372327	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	175372327	C	T	175372327	3	4	72	1	0	0	0	0	1	0	0	0	16345	864	30	2	3231	2	TNR	1	175372327	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	15814177	175372327	73878294	3	3880			1	49		3	3	76	C		1.716645e-08
TNR	7143	genome.wustl.edu	37	chr1	175372358	175372358	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctcgcccactgcaggcattCagacactgccgctggccgca	10	18	1	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:175372358C>T	ENST00000367674.2	-	4	1602	c.894G>A	c.(892-894)ctG>ctA	p.L298L	TNR_ENST00000263525.2_Silent_p.L298L			Q92752	TENR_HUMAN	tenascin R	298	Cys-rich.				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)				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)					TGCAGGCATTCAGACACTGCC	0.627																																																	0								ENSG00000116147						107	78	88					1																	175372358		2203	4300	6503	TNR	SO:0001819	synonymous_variant	0			-	HGNC	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.894G>A	1.37:g.175372358C>T		Somatic	0	58	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	62	57.24	C9J563|Q15568|Q5R3G0	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.L298	ENST00000367674.2	37	c.894	CCDS1318.1	1																																																																																			-	pfam_EGF_extracell,smart_EG-like_dom		0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175372358	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	SNP	1.000	T	T	175372358	C	T	175372358	2	4	72	1	0	0	0	0	0	0	0	1	16345	813	29	2		2	TNR	1	175372358	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	31	175372358	73878263	4	3881			1	49		3	3	76	C		1.716645e-08
TNR	7143	genome.wustl.edu	37	chr1	175372402	175372402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccaacgtagccctcctCgcataaacaggtaccgttgg	8	15	1	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:175372402C>T	ENST00000367674.2	-	4	1558	c.850G>A	c.(850-852)Gag>Aag	p.E284K	TNR_ENST00000263525.2_Missense_Mutation_p.E284K			Q92752	TENR_HUMAN	tenascin R	284	Cys-rich.|EGF-like 4.				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)				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)					TAGCCCTCCTCGCATAAACAG	0.612																																																	0								ENSG00000116147						134	88	103					1																	175372402		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.850G>A	1.37:g.175372402C>T	ENSP00000356646:p.Glu284Lys	Somatic	0	68	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	83	52.57	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E284K	ENST00000367674.2	37	c.850	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502289	0.26949	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.04454	3.62;3.62	6.04	5.13	0.70059	EGF-like region, conserved site (2);	0.360210	0.29602	N	0.011688	T	0.05593	0.0147	L	0.33137	0.985	0.23988	N	0.996254	B;B	0.14805	0.011;0.0	B;B	0.04013	0.001;0.001	T	0.30880	-0.9963	10	0.28530	T	0.3	.	16.1971	0.82040	0.0:0.2611:0.7389:0.0	.	284;284	B4DIX8;Q92752	.;TENR_HUMAN	K	284	ENSP00000356646:E284K;ENSP00000263525:E284K	ENSP00000263525:E284K	E	-	1	0	TNR	173639025	0.997000	0.39634	1.000000	0.80357	0.224000	0.24922	1.520000	0.35899	1.564000	0.49628	-0.311000	0.09066	GAG	-	pfam_EGF_extracell,smart_EG-like_dom		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175372402	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	175372402	C	T	175372402	3	4	72	1	0	0	0	0	1	0	0	0	16345	893	31	1	3306	1	TNR	1	175372402	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	44	175372402	73878219	5	3882			1	49		3	3	76	C		1.716645e-08
PLEKHA6	22874	genome.wustl.edu	37	chr1	204210828	204210828	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtacctttgttgagagctgCctgcttctctgcctctacct	8	13	2	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:204210828C>G	ENST00000272203.3	-	16	2603	c.2287G>C	c.(2287-2289)Gca>Cca	p.A763P	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A783P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	763										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGAGAGCTGCCTGCTTCTCT	0.552																																																	0								ENSG00000143850						142	128	132					1																	204210828		2203	4300	6503	PLEKHA6	SO:0001583	missense	0			-	HGNC	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2287G>C	1.37:g.204210828C>G	ENSP00000272203:p.Ala763Pro	Somatic	1	118	0.84		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	100	30.56	A7MD51|Q5VTI6	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A763P	ENST00000272203.3	37	c.2287	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688429	0.48097	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10477	2.87;3.34	5.24	3.37	0.38596	.	0.457832	0.21336	N	0.076218	T	0.08133	0.0203	L	0.36672	1.1	0.29491	N	0.855623	P	0.47409	0.895	B	0.39706	0.307	T	0.14035	-1.0487	10	0.20046	T	0.44	-2.4044	9.792	0.40710	0.0:0.8394:0.0:0.1606	.	763	Q9Y2H5	PKHA6_HUMAN	P	763;783	ENSP00000272203:A763P;ENSP00000402046:A783P	ENSP00000272203:A763P	A	-	1	0	PLEKHA6	202477451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.258000	0.32944	0.797000	0.33971	0.644000	0.83932	GCA	-	NULL		0.552	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	protein_coding	OTTHUMT00000087889.3	C	NM_014935	-		204210828	-1	no_errors	ENST00000272203	ensembl	human	known	74_37	missense	SNP	1.000	G	G	204210828	C	G	204210828	3	3	72	1	0	0	0	0	1	0	0	0	12062	739	26	4	887	4	PLEKHA6	1	204210828	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	28838426	204210828	45039793	6	3883											
FAM71A	149647	genome.wustl.edu	37	chr1	212798632	212798632	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaccatgagaaacaacAgctgcgcctgaagttcgcca	9	12	1	3			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:212798632A>T	ENST00000294829.3	+	1	844	c.413A>T	c.(412-414)cAg>cTg	p.Q138L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	138						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GAGAAACAACAGCTGCGCCTG	0.483																																																	0								ENSG00000162771						98	103	101					1																	212798632		2203	4300	6503	FAM71A	SO:0001583	missense	0			-	HGNC		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.413A>T	1.37:g.212798632A>T	ENSP00000294829:p.Gln138Leu	Somatic	0	69	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	39	44.29	Q5VTZ1	Missense_Mutation	SNP							pfam_DUF3699	p.Q138L	ENST00000294829.3	37	c.413	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623629	0.66901	.	.	ENSG00000162771	ENST00000294829	T	0.17691	2.26	4.29	4.29	0.51040	.	0.000000	0.49916	D	0.000136	T	0.43188	0.1236	M	0.85299	2.745	0.38450	D	0.946945	D	0.76494	0.999	D	0.91635	0.999	T	0.51888	-0.8648	10	0.72032	D	0.01	-22.3147	10.0499	0.42210	1.0:0.0:0.0:0.0	.	138	Q8IYT1	FA71A_HUMAN	L	138	ENSP00000294829:Q138L	ENSP00000294829:Q138L	Q	+	2	0	FAM71A	210865255	0.992000	0.36948	1.000000	0.80357	0.694000	0.40290	2.083000	0.41615	1.949000	0.56562	0.455000	0.32223	CAG	-	pfam_DUF3699		0.483	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	protein_coding	OTTHUMT00000098529.1	A	NM_153606	-		212798632	1	no_errors	ENST00000294829	ensembl	human	known	74_37	missense	SNP	1.000	T	T	212798632	A	T	212798632	3	4	72	1	0	0	0	0	1	0	0	0	5609	188	7	5	415	5	FAM71A	1	212798632	Missense_Mutation	SNP	A	TCGA-DX-A6BF-01A-11D-A307-09	8587804	212798632	36451989	7	3884											
SPATA17	128153	genome.wustl.edu	37	chr1	217955579	217955579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctttggagccaacgttgCgggtggcagaaccaatcgat	14	10	0	1	rs200145412		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:217955579C>T	ENST00000366933.4	+	8	842	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	263						cytoplasm (GO:0005737)		p.R263W(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GCCAACGTTGCGGGTGGCAGA	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000162814						92	95	94					1																	217955579		2203	4300	6503	SPATA17	SO:0001583	missense	0			-	HGNC	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.787C>T	1.37:g.217955579C>T	ENSP00000355900:p.Arg263Trp	Somatic	1	100	0.99		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	59	23.38	A5D6N2	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R263W	ENST00000366933.4	37	c.787	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475316	0.63737	.	.	ENSG00000162814	ENST00000366933	T	0.61510	0.1	4.73	-2.29	0.06805	.	0.224021	0.37530	N	0.002041	T	0.69548	0.3123	M	0.81942	2.565	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63233	-0.6683	10	0.62326	D	0.03	-20.1943	7.058	0.25109	0.1875:0.5633:0.0:0.2492	.	263	Q96L03	SPT17_HUMAN	W	263	ENSP00000355900:R263W	ENSP00000355900:R263W	R	+	1	2	SPATA17	216022202	1.000000	0.71417	0.000000	0.03702	0.531000	0.34715	0.845000	0.27668	-1.105000	0.03011	-1.969000	0.00466	CGG	-	NULL		0.453	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	protein_coding	OTTHUMT00000092433.2	C	NM_138796	rs200145412		217955579	1	no_errors	ENST00000366933	ensembl	human	known	74_37	missense	SNP	0.068	T	T	217955579	C	T	217955579	3	4	72	1	0	0	0	0	1	0	0	0	15009	759	27	1	817	1	SPATA17	1	217955579	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	5156947	217955579	31295042	8	3885											
OR1C1	26188	genome.wustl.edu	37	chr1	247921188	247921188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcacagaagaaatgatggAtgatattggaggcacagaag	13	4	1	5			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:247921188A>G	ENST00000408896.2	-	1	794	c.521T>C	c.(520-522)aTc>aCc	p.I174T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	174					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(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)			GAAATGATGGATGATATTGGA	0.478																																																	0								ENSG00000221888						67	67	67					1																	247921188		2115	4243	6358	OR1C1	SO:0001583	missense	0			-	HGNC	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.521T>C	1.37:g.247921188A>G	ENSP00000386138:p.Ile174Thr	Somatic	0	48	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	18.18	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I174T	ENST00000408896.2	37	c.521	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555262	0.65425	.	.	ENSG00000221888	ENST00000408896	T	0.00211	8.54	3.19	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00967	0.0032	H	0.97896	4.1	0.22240	N	0.99927	D	0.76494	0.999	D	0.77557	0.99	T	0.18085	-1.0348	9	0.87932	D	0	.	11.5853	0.50914	1.0:0.0:0.0:0.0	.	174	Q15619	OR1C1_HUMAN	T	174	ENSP00000386138:I174T	ENSP00000386138:I174T	I	-	2	0	OR1C1	245987811	0.173000	0.23056	0.978000	0.43139	0.973000	0.67179	4.748000	0.62148	1.459000	0.47892	0.473000	0.43528	ATC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	protein_coding	OTTHUMT00000096855.1	A		-		247921188	-1	no_errors	ENST00000408896	ensembl	human	known	74_37	missense	SNP	0.749	G	G	247921188	A	G	247921188	3	3	72	1	0	0	0	0	1	0	0	0	10954	333	12	5	425	5	OR1C1	1	247921188	Missense_Mutation	SNP	A	TCGA-DX-A6BF-01A-11D-A307-09	29965609	247921188	1329433	9	3886											
OR2T8	343172	genome.wustl.edu	37	chr1	248084655	248084655	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggtggagagtgcttcctCttagcagccatggcctatga	14	9	1	2	rs112164391		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr1:248084655C>T	ENST00000319968.4	+	1	336	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTGCTTCCTCTTAGCAGCCA	0.597																																																	0								ENSG00000177462						5	2	3					1																	248084655		1551	3034	4585	OR2T8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.336C>T	1.37:g.248084655C>T		Somatic	0	34	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L112	ENST00000319968.4	37	c.336	CCDS31100.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.597	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	protein_coding	OTTHUMT00000096862.1	C	NM_001005522	rs112164391		248084655	1	no_errors	ENST00000319968	ensembl	human	known	74_37	silent	SNP	0.314	T	T	248084655	C	T	248084655	2	4	72	1	0	0	0	0	0	0	0	1	11032	900	32	2		2	OR2T8	1	248084655	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	163467	248084655	1165966	10	3887											
ALK	238	genome.wustl.edu	37	chr2	29456563	29456563	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctggattaactggtttgtCtgtagaaacaaaaagcacgt	9	6	2	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr2:29456563C>G	ENST00000389048.3	-	14	3262		c.e14-1		ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase						activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ACTGGTTTGTCTGTAGAAACA	0.448			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0								ENSG00000171094						128	126	127					2																	29456563		2203	4300	6503	ALK	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	-	HGNC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2356-1G>C	2.37:g.29456563C>G		Somatic	0	127	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	106	31.61	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Splice_Site	SNP							-	e14-1	ENST00000389048.3	37	c.2356-1	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380951	0.82792	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5908	0.91212	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALK	29310067	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.229000	0.65316	2.395000	0.81488	0.561000	0.74099	.	-	-		0.448	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	C	NM_004304	-	Intron	29456563	-1	no_errors	ENST00000389048	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	29456563	C	G	29456563	5	3	72	1	0	0	0	0	0	0	1	0	525	927	32	4	2571	4	ALK	2	29456563	Splice_Site	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		29456563	213742810	11	3888											
TTN	7273	genome.wustl.edu	37	chr2	179442717	179442717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatataatgacttaccaAttgggtccagtgccacaaca	6	11	1	1	rs368301580		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr2:179442717A>G	ENST00000591111.1	-	272	63826	c.63602T>C	c.(63601-63603)aTt>aCt	p.I21201T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13902T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I13969T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I22842T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20274T|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13777T|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21201					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)			TGACTTACCAATTGGGTCCAG	0.408																																																	0								ENSG00000155657	A	THR/ILE,THR/ILE,THR/ILE,THR/ILE	0,3766		0,0,1883	70	66	67		41330,60821,41705,41906	5.7	1	2		67	1,8217		0,1,4108	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	89,89,89,89	0,1,5991	GG,GA,AA		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	13777/26927,20274/33424,13902/27052,13969/27119	179442717	1,11983	1883	4109	5992	TTN	SO:0001583	missense	0			-	HGNC	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.63602T>C	2.37:g.179442717A>G	ENSP00000465570:p.Ile21201Thr	Somatic	0	128	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	112	32.12	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I20274T	ENST00000591111.1	37	c.60821		2	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597209	0.28445	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62498	0.02;0.28;0.24;0.25	5.68	5.68	0.88126	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77961	0.4209	M	0.65975	2.015	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.991;0.998;0.998;0.991	T	0.80398	-0.1399	9	0.87932	D	0	.	15.9184	0.79542	1.0:0.0:0.0:0.0	.	13777;13902;13969;21201	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	20274;13777;13969;13902;13775	ENSP00000343764:I20274T;ENSP00000434586:I13777T;ENSP00000340554:I13969T;ENSP00000352154:I13902T	ENSP00000340554:I13969T	I	-	2	0	TTN	179150963	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	9.339000	0.96797	2.175000	0.68902	0.528000	0.53228	ATT	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378	-		179442717	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	G	G	179442717	A	G	179442717	3	3	72	1	0	0	0	0	1	0	0	0	16742	101	4	5	39618	5	TTN	2	179442717	Missense_Mutation	SNP	A	TCGA-DX-A6BF-01A-11D-A307-09	149986154	179442717	63756656	12	3889											
CCDC141	285025	genome.wustl.edu	37	chr2	179733848	179733848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttctaagccttacctctTccttgacttgatggaactgg	7	13	2	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr2:179733848T>C	ENST00000420890.2	-	15	2507	c.2390A>G	c.(2389-2391)gAa>gGa	p.E797G	CCDC141_ENST00000295723.5_Missense_Mutation_p.E222G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	797										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTTACCTCTTCCTTGACTTG	0.353																																																	0								ENSG00000163492						171	155	161					2																	179733848		2203	4300	6503	CCDC141	SO:0001583	missense	0			-	HGNC	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2390A>G	2.37:g.179733848T>C	ENSP00000395995:p.Glu797Gly	Somatic	0	167	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	195	17.37	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E797G	ENST00000420890.2	37	c.2390		2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111778	0.77210	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.51817	0.69;1.3;1.29;1.31	5.49	5.49	0.81192	.	0.098719	0.44285	D	0.000463	T	0.53498	0.1800	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.62560	0.904	T	0.55490	-0.8133	10	0.54805	T	0.06	-8.4263	13.3938	0.60838	0.0:0.0:0.0:1.0	.	222	Q6ZP82	CC141_HUMAN	G	797;241;222;797	ENSP00000395995:E797G;ENSP00000344627:E241G;ENSP00000295723:E222G;ENSP00000390190:E797G	ENSP00000295723:E222G	E	-	2	0	CCDC141	179442093	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.639000	0.61361	2.194000	0.70268	0.533000	0.62120	GAA	-	NULL		0.353	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	protein_coding		T	NM_173648	-		179733848	-1	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	SNP	1.000	C	C	179733848	T	C	179733848	3	2	72	1	0	0	0	0	1	0	0	0	2777	1783	62	5	1998	5	CCDC141	2	179733848	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	291131	179733848	63465525	13	3890											
ANKZF1	55139	genome.wustl.edu	37	chr2	220098857	220098857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttcttttatggcagaaGaagaccctcgggaagcagtc	10	9	2	3	rs375422658		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr2:220098857G>A	ENST00000323348.5	+	9	1225	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.E141K|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E351K	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	351						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGGCAGAAGAAGACCCTCG	0.463																																																	0								ENSG00000163516	G	LYS/GLU,LYS/GLU	1,3761		0,1,1880	41	40	40		1051,1051	4.1	1	2		40	0,8238		0,0,4119	no	missense,missense	ANKZF1	NM_001042410.1,NM_018089.2	56,56	0,1,5999	AA,AG,GG		0.0,0.0266,0.0083	benign,benign	351/727,351/727	220098857	1,11999	1881	4119	6000	ANKZF1	SO:0001583	missense	0			-	HGNC	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1051G>A	2.37:g.220098857G>A	ENSP00000321617:p.Glu351Lys	Somatic	0	51	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	Q9NVZ4	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E351K	ENST00000323348.5	37	c.1051	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110993	0.06924	2.66E-4	0.0	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.25579	1.79;2.03;1.79	4.94	4.07	0.47477	.	0.383548	0.30528	N	0.009423	T	0.17831	0.0428	L	0.45698	1.435	0.29762	N	0.835455	P;B;B	0.37330	0.59;0.05;0.053	B;B;B	0.36378	0.223;0.009;0.026	T	0.08806	-1.0704	10	0.06099	T	0.92	-5.9175	8.76	0.34669	0.1007:0.0:0.8993:0.0	.	295;141;351	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	K	351;141;351	ENSP00000321617:E351K;ENSP00000386815:E141K;ENSP00000386337:E351K	ENSP00000321617:E351K	E	+	1	0	ANKZF1	219807101	1.000000	0.71417	0.995000	0.50966	0.274000	0.26718	2.213000	0.42844	1.299000	0.44798	0.655000	0.94253	GAA	-	NULL		0.463	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	protein_coding	OTTHUMT00000335790.1	G	NM_018089	-		220098857	1	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	SNP	1.000	A	A	220098857	G	A	220098857	3	1	72	1	0	0	0	0	1	0	0	0	693	943	33	2	1081	2	ANKZF1	2	220098857	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	40365009	220098857	23100516	14	3891											
TRIP12	9320	genome.wustl.edu	37	chr2	230683116	230683116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgacaggaaaccctccCagtgtctcctcatttcccat	5	16	3	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr2:230683116C>T	ENST00000283943.5	-	8	1597	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.L176L|TRIP12_ENST00000389044.4_Silent_p.L521L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	473					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GAAACCCTCCCAGTGTCTCCT	0.438																																																	0								ENSG00000153827						149	143	145					2																	230683116		2203	4300	6503	TRIP12	SO:0001819	synonymous_variant	0			-	HGNC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1419G>A	2.37:g.230683116C>T		Somatic	0	70	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	20	65.52	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP							pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.L473	ENST00000283943.5	37	c.1419	CCDS33391.1	2																																																																																			-	superfamily_ARM-type_fold		0.438	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	protein_coding	OTTHUMT00000331861.3	C	NM_004238	-		230683116	-1	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	SNP	1.000	T	T	230683116	C	T	230683116	2	4	72	1	0	0	0	0	0	0	0	1	16563	581	21	2		2	TRIP12	2	230683116	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	10584259	230683116	12516257	15	3892											
UGT1A10	54575	genome.wustl.edu	37	chr2	234545737	234545737	+	Frame_Shift_Del	DEL	T	T	-													ccctgctcctctttcctatgTccccaatgatctcttagggt							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr2:234545737delT	ENST00000344644.5	+	1	638	c.569delT	c.(568-570)gtcfs	p.V190fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.V190fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	190					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)			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)	CTTTCCTATGTCCCCAATGAT	0.468																																																	0								ENSG00000242515						167	170	169					2																	234545737		2203	4300	6503	UGT1A10	SO:0001589	frameshift_variant	0				HGNC	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.569delT	2.37:g.234545737delT	ENSP00000343838:p.Val190fs	Somatic	0	205	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	115	27.22	O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V190fs	ENST00000344644.5	37	c.569	CCDS33403.1	2																																																																																			-	pfam_UDP_glucos_trans		0.468	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	protein_coding	OTTHUMT00000130986.1	T	NM_019075			234545737	1	no_errors	ENST00000344644	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	234545737	T	-	234545737	7	5	72	1	0	1	0	1	0	0	0	0	16952	1667	58	0	571	0	UGT1A10	2	234545737	Frame_Shift_Del	DEL	T	TCGA-DX-A6BF-01A-11D-A307-09	3862621	234545737	8653636	16	3893											
PBRM1	55193	genome.wustl.edu	37	chr3	52643669	52643669	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcatctttgtagatcaaagActccggctcattgtatgtac	8	9	3	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr3:52643669A>T	ENST00000296302.7	-	16	2228	c.2227T>A	c.(2227-2229)Tct>Act	p.S743T	PBRM1_ENST00000356770.4_Missense_Mutation_p.S711T|PBRM1_ENST00000409114.3_Missense_Mutation_p.S758T|PBRM1_ENST00000409767.1_Missense_Mutation_p.S758T|PBRM1_ENST00000409057.1_Missense_Mutation_p.S743T|PBRM1_ENST00000410007.1_Missense_Mutation_p.S743T|PBRM1_ENST00000394830.3_Missense_Mutation_p.S743T|PBRM1_ENST00000337303.4_Missense_Mutation_p.S743T			Q86U86	PB1_HUMAN	polybromo 1	743	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGATCAAAGACTCCGGCTCA	0.428			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0								ENSG00000163939						125	122	123					3																	52643669		2203	4300	6503	PBRM1	SO:0001583	missense	0			-	HGNC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2227T>A	3.37:g.52643669A>T	ENSP00000296302:p.Ser743Thr	Somatic	0	88	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	62	42.59	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP							pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.S743T	ENST00000296302.7	37	c.2227		3	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773904	0.69992	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	6.17	6.17	0.99709	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	L	0.49640	1.575	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.76494	0.994;0.987;0.998;0.999;0.987;0.987;0.984;0.999;0.999;0.984;0.984	D;D;D;D;D;D;D;D;D;D;D	0.85130	0.985;0.982;0.996;0.997;0.978;0.978;0.969;0.994;0.997;0.969;0.969	T	0.34502	-0.9826	10	0.54805	T	0.06	-39.086	16.8222	0.85835	1.0:0.0:0.0:0.0	.	743;118;743;743;743;743;758;758;743;711;743	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	T	711;743;743;743;743;743;758;758;743;702	ENSP00000349213:S711T;ENSP00000378307:S743T;ENSP00000296302:S743T;ENSP00000338302:S743T;ENSP00000386593:S743T;ENSP00000386529:S743T;ENSP00000386643:S758T;ENSP00000386601:S758T;ENSP00000387775:S743T;ENSP00000397662:S702T	ENSP00000296302:S743T	S	-	1	0	PBRM1	52618709	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	TCT	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	A	NM_018165	-		52643669	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52643669	A	T	52643669	3	4	72	1	0	0	0	0	1	0	0	0	11493	275	10	5	2733	5	PBRM1	3	52643669	Missense_Mutation	SNP	A	TCGA-DX-A6BF-01A-11D-A307-09		52643669	145378761	17	3894											
ATXN7	6314	genome.wustl.edu	37	chr3	63981233	63981233	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatctccacacgtattcctCaccggacaaactctgtgccg	6	17	3	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr3:63981233C>T	ENST00000295900.6	+	12	2285	c.1735C>T	c.(1735-1737)Cac>Tac	p.H579Y	ATXN7_ENST00000487717.1_Missense_Mutation_p.H579Y|ATXN7_ENST00000398590.3_Missense_Mutation_p.H579Y|ATXN7_ENST00000538065.1_Missense_Mutation_p.H579Y|ATXN7_ENST00000484332.1_Missense_Mutation_p.H434Y	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	579					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACGTATTCCTCACCGGACAAA	0.517																																																	0								ENSG00000163635						91	96	94					3																	63981233		2192	4296	6488	ATXN7	SO:0001583	missense	0			-	HGNC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1735C>T	3.37:g.63981233C>T	ENSP00000295900:p.His579Tyr	Somatic	0	63	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	50	41.86	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP							pfam_SCA7_dom	p.H579Y	ENST00000295900.6	37	c.1735	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481920	0.63849	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.2	5.2	0.72013	.	0.050736	0.85682	D	0.000000	T	0.55049	0.1896	L	0.53249	1.67	0.80722	D	1	B;D;D	0.65815	0.31;0.995;0.976	B;P;P	0.55161	0.133;0.77;0.454	T	0.55891	-0.8069	10	0.51188	T	0.08	-4.1977	18.7972	0.91999	0.0:1.0:0.0:0.0	.	434;579;579	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	Y	579;579;579;579;434	ENSP00000381590:H579Y;ENSP00000295900:H579Y;ENSP00000420234:H579Y;ENSP00000439585:H579Y;ENSP00000428277:H434Y	ENSP00000295900:H579Y	H	+	1	0	ATXN7	63956273	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.192000	0.77771	2.442000	0.82660	0.558000	0.71614	CAC	-	NULL		0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	protein_coding	OTTHUMT00000352070.1	C	NM_000333	-		63981233	1	no_errors	ENST00000398590	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63981233	C	T	63981233	3	4	72	1	0	0	0	0	1	0	0	0	1215	826	29	2	1841	2	ATXN7	3	63981233	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	11337564	63981233	134041197	18	3895											
GBE1	2632	genome.wustl.edu	37	chr3	81548345	81548345	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctctgatgccctccataTtccgctgcatctgaatctag	7	13	3	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr3:81548345T>C	ENST00000429644.2	-	15	2611	c.1968A>G	c.(1966-1968)gaA>gaG	p.E656E	GBE1_ENST00000489715.1_Silent_p.E615E	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	656					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GCCCTCCATATTCCGCTGCAT	0.408									Glycogen Storage Disease, type IV																																								0								ENSG00000114480						99	94	96					3																	81548345		1889	4115	6004	GBE1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-	HGNC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1968A>G	3.37:g.81548345T>C		Somatic	0	140	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	110	33.53	B3KWV3|Q96EN0	Silent	SNP							pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.E656	ENST00000429644.2	37	c.1968	CCDS54612.1	3																																																																																			-	pfam_A-amylase_b_C		0.408	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	protein_coding	OTTHUMT00000352760.2	T		-		81548345	-1	no_errors	ENST00000429644	ensembl	human	known	74_37	silent	SNP	0.449	C	C	81548345	T	C	81548345	2	2	72	1	0	0	0	0	0	0	0	1	6272	1490	52	5		5	GBE1	3	81548345	Silent	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	17567112	81548345	116474085	19	3896											
GPR156	165829	genome.wustl.edu	37	chr3	119900165	119900165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaggggagctgacatggCcagtcaggccagccaggtag	17	10	1	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr3:119900165C>A	ENST00000464295.1	-	8	1185	c.740G>T	c.(739-741)gGc>gTc	p.G247V	GPR156_ENST00000315843.3_Missense_Mutation_p.G247V|GPR156_ENST00000461057.1_Missense_Mutation_p.G243V			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GCTGACATGGCCAGTCAGGCC	0.562																																																	0								ENSG00000175697						69	65	66					3																	119900165		2203	4300	6503	GPR156	SO:0001583	missense	0			-	HGNC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.740G>T	3.37:g.119900165C>A	ENSP00000417261:p.Gly247Val	Somatic	0	62	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	51	37.04	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.G247V	ENST00000464295.1	37	c.740	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806265	0.50421	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.87571	-2.27;-2.27;-2.27	6.08	3.62	0.41486	GPCR, family 3, C-terminal (2);	0.306556	0.31685	N	0.007240	T	0.73249	0.3563	N	0.08118	0	0.42125	D	0.991442	P;P	0.42584	0.784;0.784	B;B	0.42138	0.377;0.377	T	0.69266	-0.5190	9	.	.	.	-6.1148	8.5445	0.33413	0.0:0.1725:0.0:0.8275	.	243;247	E9PFZ4;Q8NFN8	.;GP156_HUMAN	V	247;247;243	ENSP00000417261:G247V;ENSP00000324553:G247V;ENSP00000418758:G243V	.	G	-	2	0	GPR156	121382855	1.000000	0.71417	0.921000	0.36526	0.958000	0.62258	3.427000	0.52785	1.027000	0.39758	-0.345000	0.07892	GGC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.562	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	protein_coding	OTTHUMT00000355139.1	C	NM_153002	-		119900165	-1	no_errors	ENST00000315843	ensembl	human	known	74_37	missense	SNP	0.994	A	A	119900165	C	A	119900165	3	1	72	1	0	0	0	0	1	0	0	0	6663	739	26	3	1716	3	GPR156	3	119900165	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	38351820	119900165	78122265	20	3897											
TRIM42	287015	genome.wustl.edu	37	chr3	140401456	140401456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccctgcaaccacagccTgtgcgagaagtgcctgcggc	13	15	0	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr3:140401456T>C	ENST00000286349.3	+	2	685	c.494T>C	c.(493-495)cTg>cCg	p.L165P		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	165						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AACCACAGCCTGTGCGAGAAG	0.602																																																	0								ENSG00000155890						111	101	104					3																	140401456		2203	4300	6503	TRIM42	SO:0001583	missense	0			-	HGNC	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.494T>C	3.37:g.140401456T>C	ENSP00000286349:p.Leu165Pro	Somatic	0	50	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP							pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L165P	ENST00000286349.3	37	c.494	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216675	0.58452	.	.	ENSG00000155890	ENST00000286349	T	0.40756	1.02	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.202363	0.24886	N	0.034812	T	0.51109	0.1655	L	0.52011	1.625	0.58432	D	0.999995	D	0.67145	0.996	P	0.56700	0.804	T	0.54397	-0.8300	10	0.87932	D	0	-4.5405	11.4966	0.50413	0.0:0.0:0.0:1.0	.	165	Q8IWZ5	TRI42_HUMAN	P	165	ENSP00000286349:L165P	ENSP00000286349:L165P	L	+	2	0	TRIM42	141884146	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.703000	0.61824	1.978000	0.57642	0.459000	0.35465	CTG	-	pfscan_Znf_RING		0.602	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	protein_coding	OTTHUMT00000359531.2	T	NM_152616	-		140401456	1	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140401456	T	C	140401456	3	2	72	1	0	0	0	0	1	0	0	0	16524	1580	55	5	500	5	TRIM42	3	140401456	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	20501291	140401456	57620974	21	3898											
DNAJB11	51726	genome.wustl.edu	37	chr3	186299271	186299271	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggcgcttccaaatgacccagGaggtggtctgcgacgaatgc	14	11	1	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr3:186299271G>C	ENST00000439351.1	+	6	1497	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E190Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	190					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AATGACCCAGGAGGTGGTCTG	0.507																																																	0								ENSG00000090520						83	86	85					3																	186299271		2203	4300	6503	DNAJB11	SO:0001583	missense	0			-	HGNC	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.568G>C	3.37:g.186299271G>C	ENSP00000414398:p.Glu190Gln	Somatic	0	58	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	62	21.52	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP							pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E190Q	ENST00000439351.1	37	c.568	CCDS3277.1	3	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702322	0.48307	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.68181	-0.31;-0.31	5.85	5.85	0.93711	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	N	0.02960	-0.455	0.80722	D	1	B	0.16396	0.017	B	0.21708	0.036	T	0.42137	-0.9469	10	0.14252	T	0.57	-27.0675	17.6588	0.88185	0.0:0.0:1.0:0.0	.	190	Q9UBS4	DJB11_HUMAN	Q	190	ENSP00000414398:E190Q;ENSP00000265028:E190Q	ENSP00000265028:E190Q	E	+	1	0	DNAJB11	187781965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GAG	-	superfamily_HSP40/DnaJ_pept-bd		0.507	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB11	protein_coding	OTTHUMT00000344779.1	G		-		186299271	1	no_errors	ENST00000265028	ensembl	human	known	74_37	missense	SNP	1.000	C	C	186299271	G	C	186299271	3	2	72	1	0	0	0	0	1	0	0	0	4618	1175	41	4	586	4	DNAJB11	3	186299271	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	45897815	186299271	11723159	22	3899											
GAK	2580	genome.wustl.edu	37	chr4	862361	862361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcaggaagcgactggcGtccgcgctgctgcttggcgg	18	11	0	0	rs112202640		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr4:862361G>A	ENST00000314167.4	-	20	2471	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	GAK_ENST00000511163.1_Silent_p.D708D|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	787			D -> Y (in dbSNP:rs34585705). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGCGACTGGCGTCCGCGCTGC	0.687													G|||	1	0.000199681	8e-04	0	5008	,	,		16189	0		0	False		,,,				2504	0																0								ENSG00000178950	G		4,4398	9.9+/-24.2	0,4,2197	37	35	36		2361	-2.2	0	4	dbSNP_132	36	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	GAK	NM_005255.2		0,5,6494	AA,AG,GG		0.0116,0.0909,0.0385		787/1312	862361	5,12993	2201	4298	6499	GAK	SO:0001819	synonymous_variant	0			-	HGNC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2361C>T	4.37:g.862361G>A		Somatic	0	127	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	94	109	46.31	Q5U4P5|Q9BVY6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.D787	ENST00000314167.4	37	c.2361	CCDS3340.1	4																																																																																			-	NULL		0.687	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	protein_coding	OTTHUMT00000239188.1	G	NM_005255	rs112202640		862361	-1	no_errors	ENST00000314167	ensembl	human	known	74_37	silent	SNP	0.003	A	A	862361	G	A	862361	2	1	72	1	0	0	0	0	0	0	0	1	6197	1136	40	1		1	GAK	4	862361	Silent	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09		862361	190291915	23	3900											
VEGFC	7424	genome.wustl.edu	37	chr4	177609025	177609025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgagccaggcatctgCagatgtgattattccacatg	9	11	1	3			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr4:177609025C>T	ENST00000280193.2	-	5	1176	c.761G>A	c.(760-762)tGc>tAc	p.C254Y	RP11-313E19.2_ENST00000504017.1_RNA|VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	254					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CAGGCATCTGCAGATGTGATT	0.453																																																	0								ENSG00000150630						112	107	109					4																	177609025		1915	4132	6047	VEGFC	SO:0001583	missense	0			-	HGNC	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.761G>A	4.37:g.177609025C>T	ENSP00000280193:p.Cys254Tyr	Somatic	0	109	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	115	175	39.66	B2R9Q8	Missense_Mutation	SNP							pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.C254Y	ENST00000280193.2	37	c.761	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046127	0.75846	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	4.73	0.59995	.	0.051100	0.85682	N	0.000000	T	0.79185	0.4403	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82468	-0.0442	9	0.87932	D	0	-13.7135	14.8702	0.70450	0.0:0.9308:0.0:0.0692	.	254	P49767	VEGFC_HUMAN	Y	254	.	ENSP00000280193:C254Y	C	-	2	0	VEGFC	177846019	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	6.478000	0.73596	1.490000	0.48466	0.650000	0.86243	TGC	-	NULL		0.453	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	protein_coding	OTTHUMT00000361991.1	C	NM_005429	-		177609025	-1	no_errors	ENST00000280193	ensembl	human	known	74_37	missense	SNP	1.000	T	T	177609025	C	T	177609025	3	4	72	1	0	0	0	0	1	0	0	0	17159	710	25	2	513	2	VEGFC	4	177609025	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	176746664	177609025	13545251	24	3901											
CDH9	1007	genome.wustl.edu	37	chr5	26988429	26988429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaataatggtatataatgGtaagtcctcattatctgcaa	7	5	2	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr5:26988429G>T	ENST00000231021.4	-	2	184	c.12C>A	c.(10-12)taC>taA	p.Y4*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	4					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y4Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTATATAATGGTAAGTCCTCA	0.323																																					Melanoma(8;187 585 15745 40864 52829)												1	Substitution - coding silent(1)	ovary(1)						ENSG00000113100						115	121	119					5																	26988429		2203	4300	6503	CDH9	SO:0001587	stop_gained	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.12C>A	5.37:g.26988429G>T	ENSP00000231021:p.Tyr4*	Somatic	0	83	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	64	34.69	Q3B7I5	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y4*	ENST00000231021.4	37	c.12	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013996	0.75161	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	.	.	.	5.64	-0.691	0.11305	.	1.118860	0.06498	N	0.735813	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6663	0.23042	0.5324:0.0:0.3457:0.1218	.	.	.	.	X	4	.	.	Y	-	3	2	CDH9	27024186	0.010000	0.17322	0.046000	0.18839	0.396000	0.30629	-0.197000	0.09518	-0.188000	0.10499	0.591000	0.81541	TAC	-	NULL		0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	G	NM_016279	-		26988429	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	nonsense	SNP	0.001	T	T	26988429	G	T	26988429	4	4	72	1	0	0	0	0	0	1	0	0	3119	1256	44	3	2401	3	CDH9	5	26988429	Nonsense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09		26988429	153926831	25	3902											
GRIA1	2890	genome.wustl.edu	37	chr5	153078447	153078447	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagatccttatgtgatgctCaagaagaacgccaatcagtt	9	8	2	4			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr5:153078447C>G	ENST00000285900.5	+	10	1609	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	GRIA1_ENST00000518142.1_Silent_p.L342L|GRIA1_ENST00000448073.4_Silent_p.L432L|GRIA1_ENST00000521843.2_Silent_p.L353L|GRIA1_ENST00000340592.5_Silent_p.L422L|GRIA1_ENST00000518783.1_Silent_p.L432L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	422					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ATGTGATGCTCAAGAAGAACG	0.507																																																	0								ENSG00000155511						124	106	112					5																	153078447		2203	4300	6503	GRIA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1266C>G	5.37:g.153078447C>G		Somatic	0	90	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	103	18.25	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L432	ENST00000285900.5	37	c.1296	CCDS4322.1	5																																																																																			-	pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	C		-		153078447	1	no_errors	ENST00000448073	ensembl	human	known	74_37	silent	SNP	1.000	G	G	153078447	C	G	153078447	2	3	72	1	0	0	0	0	0	0	0	1	6769	813	29	4		4	GRIA1	5	153078447	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	126090018	153078447	27836813	26	3903											
KLHL32	114792	genome.wustl.edu	37	chr6	97561755	97561755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatggatgtggatactctcCatacagttgccctgtcccac	8	12	1	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr6:97561755C>A	ENST00000369261.4	+	7	1087	c.724C>A	c.(724-726)Cat>Aat	p.H242N	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.H173N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H206N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	242								p.H242N(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGATACTCTCCATACAGTTGC	0.537																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000186231						163	134	144					6																	97561755		2203	4300	6503	KLHL32	SO:0001583	missense	0			-	HGNC	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.724C>A	6.37:g.97561755C>A	ENSP00000358265:p.His242Asn	Somatic	0	97	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	87	35.56	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H242N	ENST00000369261.4	37	c.724	CCDS5038.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.264738|2.264738	0.40095|0.40095	.|.	.|.	ENSG00000186231|ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200|ENST00000369255;ENST00000447886	T;T;T|T	0.68025|0.34072	-0.3;-0.3;-0.3|1.38	5.09|5.09	5.09|5.09	0.68999|0.68999	BTB/Kelch-associated (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32645|0.32645	0.0836|0.0836	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;B;P|.	0.53619|.	0.959;0.961;0.006;0.943|.	B;P;B;P|.	0.49192|.	0.37;0.484;0.006;0.602|.	T|T	0.09729|0.09729	-1.0661|-1.0661	10|7	0.72032|0.54805	D|T	0.01|0.06	.|.	18.6745|18.6745	0.91524|0.91524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;206;242;242|.	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08|.	.;.;KLH32_HUMAN;.|.	N|Q	242;206;173|194;164	ENSP00000358265:H242N;ENSP00000440382:H206N;ENSP00000441527:H173N|ENSP00000389310:P164Q	ENSP00000358265:H242N|ENSP00000358259:P194Q	H|P	+|+	1|2	0|0	KLHL32|KLHL32	97668476|97668476	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.896000|0.896000	0.52359|0.52359	6.892000|6.892000	0.75644|0.75644	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	CAT|CCA	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.537	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	protein_coding	OTTHUMT00000041570.1	C	NM_052904	-		97561755	1	no_errors	ENST00000369261	ensembl	human	known	74_37	missense	SNP	1.000	A	A	97561755	C	A	97561755	3	1	72	1	0	0	0	0	1	0	0	0	8388	594	21	3	746	3	KLHL32	6	97561755	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		97561755	73553312	27	3904											
MYB	4602	genome.wustl.edu	37	chr6	135515004	135515004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttccataccctgtagCgttacatgtaaatatagtca	6	9	2	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr6:135515004C>A	ENST00000367814.4	+	7	977	c.791C>A	c.(790-792)gCg>gAg	p.A264E	MYB_ENST00000533624.1_Missense_Mutation_p.A264E|MYB_ENST00000525369.1_Missense_Mutation_p.A264E|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000527615.1_Missense_Mutation_p.A264E|MYB_ENST00000534121.1_Missense_Mutation_p.A264E|MYB_ENST00000420123.2_Missense_Mutation_p.A240E|MYB_ENST00000316528.8_Missense_Mutation_p.A264E|MYB_ENST00000341911.5_Missense_Mutation_p.A264E|MYB_ENST00000528774.1_Missense_Mutation_p.A264E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.A264E|MYB_ENST00000442647.2_Missense_Mutation_p.A264E	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	264					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)		TACCCTGTAGCGTTACATGTA	0.448			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0								ENSG00000118513						235	206	216					6																	135515004		2203	4300	6503	MYB	SO:0001583	missense	0			-	HGNC		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.791C>A	6.37:g.135515004C>A	ENSP00000356788:p.Ala264Glu	Somatic	0	181	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	87	185	31.99	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP							pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A264E	ENST00000367814.4	37	c.791	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764782	0.90020	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.31769	2.77;2.25;2.23;2.24;1.48;1.97;2.77;2.76;1.9;2.27	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;P;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.989;0.892;1.0;0.987;1.0	D;D;D;D;D;P;B;D;P;D	0.91635	0.994;0.987;0.998;0.991;0.999;0.867;0.334;0.999;0.698;0.998	T	0.56396	-0.7986	10	0.72032	D	0.01	-7.0423	18.8089	0.92050	0.0:1.0:0.0:0.0	.	264;264;240;264;264;264;264;264;264;264	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	E	264;264;264;264;264;264;240;264;264;264;264;264;218	ENSP00000339992:A264E;ENSP00000410825:A264E;ENSP00000326328:A264E;ENSP00000356788:A264E;ENSP00000433227:A264E;ENSP00000435938:A264E;ENSP00000434723:A264E;ENSP00000432851:A264E;ENSP00000435055:A264E;ENSP00000436605:A264E	ENSP00000237302:A264E	A	+	2	0	MYB	135556697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.204000	0.72143	2.437000	0.82529	0.650000	0.86243	GCG	-	NULL		0.448	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	protein_coding	OTTHUMT00000042347.4	C		-		135515004	1	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135515004	C	A	135515004	3	1	72	1	0	0	0	0	1	0	0	0	10009	768	27	3	817	3	MYB	6	135515004	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	37953249	135515004	35600063	28	3905											
CRHR2	1395	genome.wustl.edu	37	chr7	30721617	30721617	+	Missense_Mutation	SNP	C	C	T													cgctgcggggccagcacgttCcgatctggtccaaggtcgtg							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr7:30721617C>T	ENST00000471646.1	-	2	560	c.143G>A	c.(142-144)gGa>gAa	p.G48E	CRHR2_ENST00000506074.2_Missense_Mutation_p.G48E|CRHR2_ENST00000348438.4_Missense_Mutation_p.G75E|CRHR2_ENST00000341843.4_Missense_Mutation_p.G34E	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	48					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCAGCACGTTCCGATCTGGTC	0.692																																																	0								ENSG00000106113						30	28	28					7																	30721617		2200	4295	6495	CRHR2	SO:0001583	missense	0			-	HGNC		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.143G>A	7.37:g.30721617C>T	ENSP00000418722:p.Gly48Glu	Somatic	0	205	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	195	158	55.24	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.G75E	ENST00000471646.1	37	c.224	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.173737	0.94807	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.27	4.27	0.50696	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000001	T	0.74107	0.3673	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.995;0.991;0.981;0.997	T	0.77890	-0.2419	10	0.52906	T	0.07	.	14.6183	0.68565	0.0:1.0:0.0:0.0	.	48;48;75;34;48	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	E	48;75;34;48	ENSP00000418722:G48E;ENSP00000340943:G75E;ENSP00000344304:G34E;ENSP00000426498:G48E	ENSP00000344304:G34E	G	-	2	0	CRHR2	30688142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.521000	0.73778	2.379000	0.81126	0.655000	0.94253	GGA	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.692	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	protein_coding	OTTHUMT00000250448.3	C		-		30721617	-1	no_errors	ENST00000348438	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30721617	C	T	30721617	3	4	72	1	0	0	0	0	1	0	0	0	3874	855	30	2	1136	2	CRHR2	7	30721617	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		30721617	128417046	29	3906	53	2									
CRHR2	1395	genome.wustl.edu	37	chr7	30721622	30721622	+	Missense_Mutation	SNP	C	C	G													cggggccagcacgttccgatCtggtccaaggtcgtgttgca							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr7:30721622C>G	ENST00000471646.1	-	2	555	c.138G>C	c.(136-138)caG>caC	p.Q46H	CRHR2_ENST00000506074.2_Missense_Mutation_p.Q46H|CRHR2_ENST00000348438.4_Missense_Mutation_p.Q73H|CRHR2_ENST00000341843.4_Missense_Mutation_p.Q32H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	46					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACGTTCCGATCTGGTCCAAGG	0.687																																																	0								ENSG00000106113						29	27	28					7																	30721622		2200	4293	6493	CRHR2	SO:0001583	missense	0			-	HGNC		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.138G>C	7.37:g.30721622C>G	ENSP00000418722:p.Gln46His	Somatic	0	209	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	200	165	54.79	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.Q73H	ENST00000471646.1	37	c.219	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667219	0.47677	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.27	2.44	0.29823	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.369023	0.25514	N	0.030146	T	0.61800	0.2376	L	0.49126	1.545	0.37606	D	0.920756	P;P;P;P;P	0.48089	0.681;0.792;0.905;0.837;0.681	B;B;P;P;B	0.52217	0.311;0.404;0.693;0.605;0.311	T	0.62153	-0.6914	10	0.41790	T	0.15	.	7.7429	0.28851	0.0:0.7416:0.165:0.0934	.	46;46;73;32;46	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	H	46;73;32;46	ENSP00000418722:Q46H;ENSP00000340943:Q73H;ENSP00000344304:Q32H;ENSP00000426498:Q46H	ENSP00000344304:Q32H	Q	-	3	2	CRHR2	30688147	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.326000	0.43849	0.552000	0.29026	-0.140000	0.14226	CAG	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.687	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	protein_coding	OTTHUMT00000250448.3	C		-		30721622	-1	no_errors	ENST00000348438	ensembl	human	known	74_37	missense	SNP	1.000	G	G	30721622	C	G	30721622	3	3	72	1	0	0	0	0	1	0	0	0	3874	912	32	4	1141	4	CRHR2	7	30721622	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	5	30721622	128417041	30	3907	53	2									
CRHR2	1395	genome.wustl.edu	37	chr7	30721808	30721808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctaccctcggggtccaggGgtggcccccagccgtccaag	14	17	0	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr7:30721808G>T	ENST00000471646.1	-	1	506	c.89C>A	c.(88-90)cCc>cAc	p.P30H	CRHR2_ENST00000506074.2_Missense_Mutation_p.P30H|CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000341843.4_Intron	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	30					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGTCCAGGGGTGGCCCCCA	0.741																																																	0								ENSG00000106113						8	11	10					7																	30721808		2180	4266	6446	CRHR2	SO:0001583	missense	0			-	HGNC		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.89C>A	7.37:g.30721808G>T	ENSP00000418722:p.Pro30His	Somatic	0	37	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.P30H	ENST00000471646.1	37	c.89	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628719	0.28978	.	.	ENSG00000106113	ENST00000471646;ENST00000506074	T;T	0.42513	0.97;1.06	4.45	2.65	0.31530	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B;P;B	0.34815	0.196;0.47;0.196	B;B;B	0.28784	0.039;0.094;0.039	T	0.09122	-1.0689	9	0.42905	T	0.14	.	6.8834	0.24187	0.2093:0.0:0.7907:0.0	.	30;30;30	B3SXT0;B3SXS6;Q13324	.;.;CRFR2_HUMAN	H	30	ENSP00000418722:P30H;ENSP00000426498:P30H	ENSP00000418722:P30H	P	-	2	0	CRHR2	30688333	0.029000	0.19370	0.065000	0.19835	0.876000	0.50452	1.499000	0.35671	0.635000	0.30488	0.563000	0.77884	CCC	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF2_rcpt		0.741	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	protein_coding	OTTHUMT00000250448.3	G		-		30721808	-1	no_errors	ENST00000471646	ensembl	human	known	74_37	missense	SNP	0.128	T	T	30721808	G	T	30721808	3	4	72	1	0	0	0	0	1	0	0	0	3874	1232	43	3	1194	3	CRHR2	7	30721808	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	186	30721808	128416855	31	3908											
CDK14	5218	genome.wustl.edu	37	chr7	90355898	90355898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatatgtgtcacaaagatGtctacacggaactgccaggg	11	9	2	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr7:90355898G>A	ENST00000380050.3	+	3	272	c.141G>A	c.(139-141)atG>atA	p.M47I	CDK14_ENST00000496279.1_3'UTR|CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000406263.1_Start_Codon_SNP_p.M1I|CDK14_ENST00000265741.3_Missense_Mutation_p.M29I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	47					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCACAAAGATGTCTACACGGA	0.388																																					GBM(83;1228 1256 8311 16577 31299)												0								ENSG00000058091						79	72	74					7																	90355898		2203	4300	6503	CDK14	SO:0001583	missense	0			-	HGNC		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.141G>A	7.37:g.90355898G>A	ENSP00000369390:p.Met47Ile	Somatic	0	141	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	76	19.15	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M47I	ENST00000380050.3	37	c.141		7	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756667	0.49362	.	.	ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263	T;T;T;T;T;T;T	0.69306	2.15;2.15;2.15;2.15;-0.39;-0.37;-0.38	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	L	0.27053	0.805	0.80722	D	1	P;P	0.39044	0.656;0.525	P;P	0.48627	0.584;0.48	T	0.59947	-0.7358	10	0.23891	T	0.37	-19.0256	19.8788	0.96888	0.0:0.0:1.0:0.0	.	29;47	O94921-2;O94921	.;CDK14_HUMAN	I	1;1;1;1;47;1;29;1	ENSP00000393616:M1I;ENSP00000410770:M1I;ENSP00000394570:M1I;ENSP00000406848:M1I;ENSP00000369390:M47I;ENSP00000265741:M29I;ENSP00000385034:M1I	ENSP00000265741:M29I	M	+	3	0	CDK14	90193834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.998000	0.93550	2.704000	0.92352	0.563000	0.77884	ATG	-	NULL		0.388	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	protein_coding	OTTHUMT00000059970.5	G	NM_012395	-		90355898	1	no_errors	ENST00000380050	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90355898	G	A	90355898	3	1	72	1	0	0	0	0	1	0	0	0	3132	1377	48	2	93	2	CDK14	7	90355898	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	59634090	90355898	68782765	32	3909											
CADPS2	93664	genome.wustl.edu	37	chr7	122526253	122526253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcgccgccgccgcccgcgcGccccggcgcgtcccgccgcc	14	26	0	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr7:122526253G>T	ENST00000449022.2	-	1	158	c.139C>A	c.(139-141)Cgc>Agc	p.R47S	CADPS2_ENST00000412584.2_Missense_Mutation_p.R47S|CADPS2_ENST00000334010.7_Missense_Mutation_p.R47S|CADPS2_ENST00000313070.7_Missense_Mutation_p.R47S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	47				APGR -> GRG (in Ref. 2; AAN38707). {ECO:0000305}.	cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ccgcccgcgcgccccggcgcg	0.751																																																	0								ENSG00000081803						2	3	3					7																	122526253		1020	2374	3394	CADPS2	SO:0001583	missense	0			-	HGNC		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.139C>A	7.37:g.122526253G>T	ENSP00000398481:p.Arg47Ser	Somatic	0	33	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	40.00	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP							pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R47S	ENST00000449022.2	37	c.139	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314229	0.23908	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000412584;ENST00000449022	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.09	4.09	0.47781	.	0.682414	0.13327	N	0.396231	T	0.13798	0.0334	N	0.01874	-0.695	0.34396	D	0.694766	B;B	0.31625	0.081;0.332	B;B	0.26693	0.072;0.049	T	0.21075	-1.0256	10	0.02654	T	1	-5.4813	9.1409	0.36903	0.0:0.0:0.7823:0.2177	.	47;47	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	S	47	ENSP00000325581:R47S;ENSP00000333940:R47S;ENSP00000400401:R47S;ENSP00000398481:R47S	ENSP00000325581:R47S	R	-	1	0	CADPS2	122313489	1.000000	0.71417	0.976000	0.42696	0.673000	0.39480	1.841000	0.39240	2.080000	0.62538	0.557000	0.71058	CGC	-	NULL		0.751	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	protein_coding	OTTHUMT00000347414.2	G	NM_017954	-		122526253	-1	no_errors	ENST00000449022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122526253	G	T	122526253	3	4	72	1	0	0	0	0	1	0	0	0	2573	1087	38	3	3915	3	CADPS2	7	122526253	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	32170355	122526253	36612410	33	3910											
DEFB134	613211	genome.wustl.edu	37	chr8	11853731	11853731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggatcccaaaggaaaagAaagacaaacacaacaaggag	9	8	0	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr8:11853731A>G	ENST00000526438.1	-	1	90	c.30T>C	c.(28-30)ttT>ttC	p.F10F	DEFB134_ENST00000382205.4_Silent_p.F10F	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	10					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		AAAGGAAAAGAAAGACAAACA	0.478																																																	0								ENSG00000205882						142	142	142					8																	11853731		2203	4300	6503	DEFB134	SO:0001819	synonymous_variant	0			-	HGNC	AY621331, DQ012024	CCDS34847.1	8p23.1	2010-04-15			ENSG00000205882	ENSG00000205882		"Defensins, beta"	32399	protein-coding gene	gene with protein product						16033865	Standard	NM_001033019		Approved		uc011kxn.2	Q4QY38	OTTHUMG00000158718	ENST00000526438.1:c.30T>C	8.37:g.11853731A>G		Somatic	0	266	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	272	16.31	A1L4A4	Silent	SNP							NULL	p.F10	ENST00000526438.1	37	c.30	CCDS34847.1	8																																																																																			-	NULL		0.478	DEFB134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB134	protein_coding	OTTHUMT00000351887.2	A	NM_001033019	-		11853731	-1	no_errors	ENST00000526438	ensembl	human	known	74_37	silent	SNP	0.026	G	G	11853731	A	G	11853731	2	3	72	1	0	0	0	0	0	0	0	1	4420	243	9	5		5	DEFB134	8	11853731	Silent	SNP	A	TCGA-DX-A6BF-01A-11D-A307-09		11853731	134510291	34	3911											
ZMAT4	79698	genome.wustl.edu	37	chr8	40532319	40532319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgccatcataatgttgctGggccatcagagggttattaa	10	8	2	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr8:40532319G>T	ENST00000297737.6	-	5	627	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	161						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAATGTTGCTGGGCCATCAGA	0.483																																																	0								ENSG00000165061						199	192	195					8																	40532319		2203	4300	6503	ZMAT4	SO:0001583	missense	0			-	HGNC	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.481C>A	8.37:g.40532319G>T	ENSP00000297737:p.Gln161Lys	Somatic	0	173	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	172	18.10	Q8WUT8	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.Q161K	ENST00000297737.6	37	c.481	CCDS34885.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541691	0.85917	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.42513	0.97;0.97	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.119769	0.64402	D	0.000007	T	0.48277	0.1491	L	0.59436	1.845	0.54753	D	0.999986	P	0.46859	0.885	P	0.45538	0.484	T	0.35375	-0.9791	10	0.36615	T	0.2	-27.6248	18.9244	0.92538	0.0:0.0:1.0:0.0	.	161	Q9H898	ZMAT4_HUMAN	K	161	ENSP00000297737:Q161K;ENSP00000428423:Q161K	ENSP00000297737:Q161K	Q	-	1	0	ZMAT4	40651476	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.366000	0.97143	2.817000	0.96982	0.557000	0.71058	CAG	-	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like		0.483	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	protein_coding	OTTHUMT00000376950.1	G	NM_024645	-		40532319	-1	no_errors	ENST00000297737	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40532319	G	T	40532319	3	4	72	1	0	0	0	0	1	0	0	0	17701	1357	47	3	220	3	ZMAT4	8	40532319	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	28678588	40532319	105831703	35	3912											
TOX	9760	genome.wustl.edu	37	chr8	59851920	59851920	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatattggagactgtgaTttcagggaggtccatgtttt	12	6	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr8:59851920T>A	ENST00000361421.1	-	3	572	c.352A>T	c.(352-354)Atc>Ttc	p.I118F		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	118						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAGACTGTGATTTCAGGGAGG	0.473																																					Pancreas(161;610 1969 17913 21374 22725)												0								ENSG00000198846						137	130	132					8																	59851920		2203	4300	6503	TOX	SO:0001583	missense	0			-	HGNC		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.352A>T	8.37:g.59851920T>A	ENSP00000354842:p.Ile118Phe	Somatic	0	278	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	165	38.43	Q96AV5	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.I118F	ENST00000361421.1	37	c.352	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669984	0.47677	.	.	ENSG00000198846	ENST00000361421	T	0.42131	0.98	5.56	5.56	0.83823	.	0.054103	0.64402	D	0.000001	T	0.40956	0.1138	L	0.60455	1.87	0.53005	D	0.999962	P	0.39480	0.675	B	0.36567	0.228	T	0.29971	-0.9994	9	.	.	.	.	15.7046	0.77569	0.0:0.0:0.0:1.0	.	118	O94900	TOX_HUMAN	F	118	ENSP00000354842:I118F	.	I	-	1	0	TOX	60014474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.705000	0.61838	2.123000	0.65237	0.482000	0.46254	ATC	-	NULL		0.473	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	protein_coding	OTTHUMT00000378307.1	T	NM_014729	-		59851920	-1	no_errors	ENST00000361421	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59851920	T	A	59851920	3	1	72	1	0	0	0	0	1	0	0	0	16384	1493	52	5	1256	5	TOX	8	59851920	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	19319601	59851920	86512102	36	3913											
OR13C5	138799	genome.wustl.edu	37	chr9	107360878	107360878	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgtcagtggcatccaAgtcatctgaattaagtgtct	9	7	4	1	rs141268591		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr9:107360878A>G	ENST00000374779.2	-	1	910	c.817T>C	c.(817-819)Ttg>Ctg	p.L273L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L273M(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGGCATCCAAGTCATCTGAA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000255800	A		1,4405	2.1+/-5.4	0,1,2202	136	126	129		817	-6.3	0	9	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	OR13C5	NM_001004482.1		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		273/319	107360878	1,13005	2203	4300	6503	OR13C5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.817T>C	9.37:g.107360878A>G		Somatic	0	185	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	240	15.49	B2RNE5|B9EGW5|Q6IF53	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L273	ENST00000374779.2	37	c.817	CCDS35091.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	protein_coding	OTTHUMT00000053479.2	A	NM_001004482	rs141268591		107360878	-1	no_errors	ENST00000374779	ensembl	human	known	74_37	silent	SNP	0.000	G	G	107360878	A	G	107360878	2	3	72	1	0	0	0	0	0	0	0	1	10939	69	3	5		5	OR13C5	9	107360878	Silent	SNP	A	TCGA-DX-A6BF-01A-11D-A307-09		107360878	33852553	37	3914											
TUBB8	347688	genome.wustl.edu	37	chr10	95173	95173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcgtgagcacgatctcCctcatggccaaggcgggatt	12	12	3	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr10:95173C>T	ENST00000309812.4	-	1	68	c.6G>A	c.(4-6)agG>agA	p.R2R	TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000332708.5_Silent_p.R2R	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	2					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCACGATCTCCCTCATGGCCA	0.672																																					Pancreas(192;2041 3010 9013 18103)												0								ENSG00000173876						18	16	17					10																	95173		2196	4295	6491	TUBB8	SO:0001819	synonymous_variant	0			-	HGNC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.6G>A	10.37:g.95173C>T		Somatic	0	212	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	131	38.03	Q5SQX9|Q8WZ78	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.R2	ENST00000309812.4	37	c.6	CCDS7051.1	10																																																																																			-	pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase		0.672	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	protein_coding	OTTHUMT00000467795.1	C	NM_177987	-		95173	-1	no_errors	ENST00000309812	ensembl	human	known	74_37	silent	SNP	1.000	T	T	95173	C	T	95173	2	4	72	1	0	0	0	0	0	0	0	1	16768	622	22	2		2	TUBB8	10	95173	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		95173	135439574	38	3915											
MCM10	55388	genome.wustl.edu	37	chr10	13214625	13214626	+	Splice_Site	INS	-	-	A													tattttacttttgattaagtINSagagaagtctccccggccac							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr10:13214625_13214626insA	ENST00000484800.2	+	5	558_559	c.455_456insA	c.(454-459)gtagag>gtAagag	p.E153fs	MCM10_ENST00000378694.1_Intron|MCM10_ENST00000378714.3_Intron			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	153	N-terminal domain. {ECO:0000250}.				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						TTTGATTAAGTAGAGAAGTCTC	0.431																																																	0								ENSG00000065328																																			MCM10	SO:0001630	splice_region_variant	0				HGNC	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.455-1->A	10.37:g.13214626_13214626dupA		Somatic	0	67	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	57	32.14	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Frame_Shift_Ins	INS							pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.E153fs	ENST00000484800.2	37	c.455_456	CCDS7096.1	10																																																																																			-	NULL		0.431	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	protein_coding	OTTHUMT00000356853.1	-	NM_182751		Frame_Shift_Ins	13214626	1	no_errors	ENST00000484800	ensembl	human	known	74_37	frame_shift_ins	INS	0.076:0.155	A	A	13214626	-	A	13214625	8	5	72	1	0	1	1	0	0	0	1	0	9387	1652	57	0	469	0	MCM10	10	13214625	Splice_Site	INS	-	TCGA-DX-A6BF-01A-11D-A307-09	13119452	13214625	122320122	39	3916											
KIAA1217	56243	genome.wustl.edu	37	chr10	24834028	24834028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatccccgccaatatcGtcaggtagttttaccttaaa	8	11	1	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr10:24834028G>A	ENST00000376454.3	+	20	5360	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R927H|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R901H|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R1460H|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R861H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1183H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1208H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R1098H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1777					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						CGCCAATATCGTCAGGTAGTT	0.473																																																	0								ENSG00000120549						60	65	63					10																	24834028		2203	4300	6503	KIAA1217	SO:0001583	missense	0			-	HGNC	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.5330G>A	10.37:g.24834028G>A	ENSP00000365637:p.Arg1777His	Somatic	0	70	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	57	16.18	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP							pfam_AIP3_C	p.R1777H	ENST00000376454.3	37	c.5330	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040141	0.93630	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.64618	1.14;0.86;0.61;0.97;-0.11;-0.02;0.31;0.57	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.70275	2.135	0.39623	D	0.970059	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D	0.91635	0.999;0.996;0.999;0.904;0.999;0.999;0.999;0.999	T	0.80311	-0.1436	10	0.54805	T	0.06	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	1183;1208;861;901;1460;927;1777;1178	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	H	1098;1183;1460;1777;1208;927;1366;901;1460;861	ENSP00000365645:R1098H;ENSP00000392625:R1183H;ENSP00000365637:R1777H;ENSP00000365635:R1208H;ENSP00000302343:R927H;ENSP00000379722:R901H;ENSP00000365634:R1460H;ENSP00000379723:R861H	ENSP00000302343:R927H	R	+	2	0	KIAA1217	24874034	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	9.443000	0.97568	2.723000	0.93209	0.655000	0.94253	CGT	-	NULL		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	G	NM_019590	-		24834028	1	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24834028	G	A	24834028	3	1	72	1	0	0	0	0	1	0	0	0	8218	1145	40	1	5408	1	KIAA1217	10	24834028	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	11619403	24834028	110700719	40	3917											
CH25H	9023	genome.wustl.edu	37	chr10	90966518	90966518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagcccaaagaaaacagttCccagacgctcatatactgcg	8	12	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr10:90966518C>T	ENST00000371852.2	-	1	553	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	178					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GAAAACAGTTCCCAGACGCTC	0.577																																																	0								ENSG00000138135						161	157	158					10																	90966518		2203	4300	6503	CH25H	SO:0001583	missense	0			-	HGNC	AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"Fatty acid hydroxylase domain containing"	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.532G>A	10.37:g.90966518C>T	ENSP00000360918:p.Glu178Lys	Somatic	0	81	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	58	30.12	B2RBY3	Missense_Mutation	SNP							pfam_Fatty_acid_hydroxylase	p.E178K	ENST00000371852.2	37	c.532	CCDS7400.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.422104	0.96111	.	.	ENSG00000138135	ENST00000371852	D	0.85861	-2.04	4.88	4.88	0.63580	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.95201	0.8444	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96684	0.9506	10	0.87932	D	0	-39.757	17.8989	0.88897	0.0:1.0:0.0:0.0	.	178	O95992	CH25H_HUMAN	K	178	ENSP00000360918:E178K	ENSP00000360918:E178K	E	-	1	0	CH25H	90956498	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.625000	0.83145	2.628000	0.89032	0.563000	0.77884	GAA	-	pfam_Fatty_acid_hydroxylase		0.577	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CH25H	protein_coding	OTTHUMT00000049291.1	C	NM_003956	-		90966518	-1	no_errors	ENST00000371852	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90966518	C	T	90966518	3	4	72	1	0	0	0	0	1	0	0	0	3309	864	30	2	290	2	CH25H	10	90966518	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	66132490	90966518	44568229	41	3918											
PANK1	53354	genome.wustl.edu	37	chr10	91344218	91344218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccaacggctccaaaaTaaccctacgaaaacaataca	5	14	0	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr10:91344218T>C	ENST00000307534.4	-	7	1897	c.1742A>G	c.(1741-1743)tAt>tGt	p.Y581C	PANK1_ENST00000342512.3_Missense_Mutation_p.Y356C|PANK1_ENST00000371774.2_Missense_Mutation_p.Y383C|PANK1_ENST00000322191.6_Missense_Mutation_p.Y297C	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	581					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GGCTCCAAAATAACCCTACGA	0.393																																																	0								ENSG00000152782						135	133	134					10																	91344218		2203	4300	6503	PANK1	SO:0001583	missense	0			-	HGNC	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1742A>G	10.37:g.91344218T>C	ENSP00000302108:p.Tyr581Cys	Somatic	0	127	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	95	11.21	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP							pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.Y581C	ENST00000307534.4	37	c.1742	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660135	0.67586	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99809	-6.86;-6.48;-6.86;-6.86	4.8	4.8	0.61643	.	0.123295	0.56097	D	0.000023	D	0.99816	0.9919	M	0.93678	3.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.997;1.0;0.975;0.999	D	0.96792	0.9583	10	0.87932	D	0	-21.2291	13.9575	0.64160	0.0:0.0:0.0:1.0	.	383;581;297;356	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	C	356;297;383;581;444	ENSP00000345118:Y356C;ENSP00000318526:Y297C;ENSP00000360839:Y383C;ENSP00000302108:Y581C	ENSP00000302108:Y581C	Y	-	2	0	PANK1	91334198	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.333000	0.79214	2.134000	0.65973	0.533000	0.62120	TAT	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.393	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	protein_coding		T		-		91344218	-1	no_errors	ENST00000307534	ensembl	human	known	74_37	missense	SNP	1.000	C	C	91344218	T	C	91344218	3	2	72	1	0	0	0	0	1	0	0	0	11418	1406	49	5	58	5	PANK1	10	91344218	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	377700	91344218	44190529	42	3919											
FADS1	3992	genome.wustl.edu	37	chr11	61569925	61569925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccagagctgccctgactcCtttagtgagctgcagggaca	12	12	0	3			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr11:61569925C>G	ENST00000350997.7	-	12	1696	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FADS1_ENST00000542506.1_Missense_Mutation_p.K347N|FADS1_ENST00000460649.1_Missense_Mutation_p.K133N|FADS1_ENST00000536991.1_Missense_Mutation_p.K179N|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Missense_Mutation_p.K347N	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	431					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCCCTGACTCCTTTAGTGAGC	0.542																																																	0								ENSG00000149485						33	34	33					11																	61569925		2056	4212	6268	FADS1	SO:0001583	missense	0			-	HGNC		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1464G>C	11.37:g.61569925C>G	ENSP00000322229:p.Lys488Asn	Somatic	0	157	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	118	35.87	A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP							pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.K488N	ENST00000350997.7	37	c.1464	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811074	0.70797	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506	T;T;T;T	0.60672	0.17;0.78;1.79;1.79	5.21	3.33	0.38152	.	0.000000	0.50627	U	0.000111	T	0.69575	0.3126	L	0.55990	1.75	0.45852	D	0.998716	D	0.89917	1.0	D	0.85130	0.997	T	0.70952	-0.4732	10	0.87932	D	0	-11.0637	12.061	0.53562	0.0:0.8562:0.0:0.1438	.	431	O60427	FADS1_HUMAN	N	363;488;347;179;347;133;347	ENSP00000322229:K488N;ENSP00000439097:K179N;ENSP00000405087:K347N;ENSP00000441403:K347N	ENSP00000322229:K488N	K	-	3	2	FADS1	61326501	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.254000	0.32897	0.712000	0.32039	-0.137000	0.14449	AAG	-	pirsf_Fatty_acid/sphinglp_desaturase		0.542	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	protein_coding	OTTHUMT00000347648.2	C	NM_013402	-		61569925	-1	no_errors	ENST00000350997	ensembl	human	known	74_37	missense	SNP	1.000	G	G	61569925	C	G	61569925	3	3	72	1	0	0	0	0	1	0	0	0	5367	680	24	4	45	4	FADS1	11	61569925	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		61569925	73436591	43	3920											
SLC22A10	387775	genome.wustl.edu	37	chr11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtttactgtgtactaCgcttcttggcaggtttttct	8	10	2	0	rs200183991		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr11:63064875C>T	ENST00000332793.6	+	3	609	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_ENST00000544661.1_Missense_Mutation_p.R48C|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	203						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTGTGTACTACGCTTCTTGGC	0.408																																																	0								ENSG00000184999	C	CYS/ARG	2,4092		0,2,2045	170	169	169		607	2.3	0.3	11		169	0,8428		0,0,4214	yes	missense	SLC22A10	NM_001039752.3	180	0,2,6259	TT,TC,CC		0.0,0.0489,0.016	probably-damaging	203/542	63064875	2,12520	2047	4214	6261	SLC22A10	SO:0001583	missense	0			-	HGNC	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.607C>T	11.37:g.63064875C>T	ENSP00000327569:p.Arg203Cys	Somatic	0	122	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	54	54.62	Q68CJ0	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R203C	ENST00000332793.6	37	c.607	CCDS41661.1	11	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306314	0.60305	4.89E-4	0.0	ENSG00000184999	ENST00000544661;ENST00000332793	D;D	0.90261	-2.64;-2.64	3.26	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.066213	0.64402	N	0.000009	D	0.93341	0.7877	M	0.92077	3.27	0.80722	D	1	P	0.50819	0.939	P	0.50352	0.638	D	0.92539	0.6040	10	0.72032	D	0.01	.	8.4548	0.32893	0.0:0.8776:0.0:0.1224	.	203	Q63ZE4	S22AA_HUMAN	C	48;203	ENSP00000445667:R48C;ENSP00000327569:R203C	ENSP00000327569:R203C	R	+	1	0	SLC22A10	62821451	0.772000	0.28567	0.265000	0.24526	0.132000	0.20833	1.238000	0.32707	0.751000	0.32900	0.447000	0.29281	CGC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.408	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	protein_coding	OTTHUMT00000382622.3	C	NM_001039752	rs200183991		63064875	1	no_errors	ENST00000332793	ensembl	human	known	74_37	missense	SNP	0.874	T	T	63064875	C	T	63064875	3	4	72	1	0	0	0	0	1	0	0	0	14449	536	19	1	617	1	SLC22A10	11	63064875	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	1494950	63064875	71941641	44	3921											
ODZ4	26011	genome.wustl.edu	37	chr11	78780916	78780916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcctcgctgtccgcggacGagctggtgtagcggcgctcg	15	15	0	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr11:78780916G>A	ENST00000278550.7	-	5	536	c.74C>T	c.(73-75)tCg>tTg	p.S25L	TENM4_ENST00000533038.1_5'UTR	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	25	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTCCGCGGACGAGCTGGTGTA	0.687																																																	0								ENSG00000149256						32	38	36					11																	78780916		692	1591	2283	TENM4	SO:0001583	missense	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.74C>T	11.37:g.78780916G>A	ENSP00000278550:p.Ser25Leu	Somatic	0	141	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	94	36.05	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S25L	ENST00000278550.7	37	c.74	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.877602	0.97055	.	.	ENSG00000149256	ENST00000278550	T	0.41400	1.0	4.54	4.54	0.55810	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.64057	0.2564	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.968	T	0.65076	-0.6256	9	.	.	.	.	17.8567	0.88765	0.0:0.0:1.0:0.0	.	25;25	G3CAT1;Q6N022	.;TEN4_HUMAN	L	25	ENSP00000278550:S25L	.	S	-	2	0	ODZ4	78458564	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.229000	0.95273	2.525000	0.85131	0.655000	0.94253	TCG	-	pfam_Ten_N		0.687	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	G		-		78780916	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78780916	G	A	78780916	3	1	72	1	0	0	0	0	1	0	0	0	10839	1059	37	1	8355	1	ODZ4	11	78780916	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	15716041	78780916	56225600	45	3922											
FAT3	120114	genome.wustl.edu	37	chr11	92523332	92523332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcactggcgtgctctataCtgccgagaggctggaccatg	13	11	1	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr11:92523332C>T	ENST00000298047.6	+	7	4576	c.4559C>T	c.(4558-4560)aCt>aTt	p.T1520I	FAT3_ENST00000525166.1_Missense_Mutation_p.T1370I|FAT3_ENST00000409404.2_Missense_Mutation_p.T1520I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1520	Cadherin 14. {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)				GTGCTCTATACTGCCGAGAGG	0.488										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						157	153	154					11																	92523332		2034	4194	6228	FAT3	SO:0001583	missense	0			-	HGNC	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.4559C>T	11.37:g.92523332C>T	ENSP00000298047:p.Thr1520Ile	Somatic	0	52	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T1520I	ENST00000298047.6	37	c.4559		11	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830117	0.50845	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01613	4.73;4.73;4.73	6.17	4.0	0.46444	.	.	.	.	.	T	0.03348	0.0097	M	0.66297	2.02	0.80722	D	1	B	0.22800	0.075	B	0.27608	0.081	T	0.45249	-0.9274	9	0.21014	T	0.42	.	14.0278	0.64597	0.0:0.8588:0.0:0.1412	.	1520	Q8TDW7-3	.	I	1520;1520;1370	ENSP00000298047:T1520I;ENSP00000387040:T1520I;ENSP00000432586:T1370I	ENSP00000298047:T1520I	T	+	2	0	FAT3	92162980	1.000000	0.71417	0.597000	0.28824	0.321000	0.28281	4.894000	0.63206	1.616000	0.50265	0.655000	0.94253	ACT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92523332	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	0.992	T	T	92523332	C	T	92523332	3	4	72	1	0	0	0	0	1	0	0	0	5693	565	20	2	4585	2	FAT3	11	92523332	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	13742416	92523332	42483184	46	3923											
MMP7	4316	genome.wustl.edu	37	chr11	102398334	102398334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggggatctctttgccccaCatgtttaaagcctttgacac	9	11	1	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr11:102398334C>A	ENST00000260227.4	-	3	457	c.405G>T	c.(403-405)atG>atT	p.M135I		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	135					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	CTTTGCCCCACATGTTTAAAG	0.438																																																	0								ENSG00000137673						124	120	121					11																	102398334		2203	4299	6502	MMP7	SO:0001583	missense	0			-	HGNC	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"matrix metalloproteinase 7 (matrilysin, uterine)"	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.405G>T	11.37:g.102398334C>A	ENSP00000260227:p.Met135Ile	Somatic	0	150	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	42	55.32	Q9BTK9	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.M135I	ENST00000260227.4	37	c.405	CCDS8317.1	11	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579246	0.28180	.	.	ENSG00000137673	ENST00000260227	T	0.48836	0.8	4.85	1.9	0.25705	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.671381	0.13295	N	0.398721	T	0.27134	0.0665	L	0.28192	0.835	0.24613	N	0.993714	B;B;B	0.30914	0.3;0.001;0.006	B;B;B	0.25987	0.065;0.005;0.026	T	0.17077	-1.0381	10	0.44086	T	0.13	0.6303	1.5284	0.02530	0.1362:0.4069:0.1331:0.3239	.	135;135;135	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	I	135	ENSP00000260227:M135I	ENSP00000260227:M135I	M	-	3	0	MMP7	101903544	0.010000	0.17322	0.629000	0.29254	0.963000	0.63663	-1.190000	0.03058	0.461000	0.27071	0.563000	0.77884	ATG	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A		0.438	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP7	protein_coding	OTTHUMT00000109633.2	C		-		102398334	-1	no_errors	ENST00000260227	ensembl	human	known	74_37	missense	SNP	0.104	A	A	102398334	C	A	102398334	3	1	72	1	0	0	0	0	1	0	0	0	9669	478	17	3	414	3	MMP7	11	102398334	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	9875002	102398334	32608182	47	3924											
ING4	51147	genome.wustl.edu	37	chr12	6760372	6760372	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttatctatttcttctTccgttcttgggagcagcgtg	10	11	4	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:6760372T>A	ENST00000396807.4	-	8	777	c.739A>T	c.(739-741)Aag>Tag	p.K247*	ING4_ENST00000423703.2_3'UTR|ING4_ENST00000412586.2_Nonsense_Mutation_p.K244*|ING4_ENST00000446105.2_Nonsense_Mutation_p.K243*|ING4_ENST00000444704.2_Nonsense_Mutation_p.K223*|ING4_ENST00000486287.1_5'UTR|ING4_ENST00000341550.4_Nonsense_Mutation_p.K246*	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	247					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TATTTCTTCTTCCGTTCTTGG	0.527																																																	0								ENSG00000111653						98	89	92					12																	6760372		2203	4300	6503	ING4	SO:0001587	stop_gained	0			-	HGNC	AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.739A>T	12.37:g.6760372T>A	ENSP00000380024:p.Lys247*	Somatic	0	227	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	98	191	33.91	A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Nonsense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K247*	ENST00000396807.4	37	c.739	CCDS44813.1	12	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783834	0.70222	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000412586	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.39297	D	0.964849	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.006	13.5557	0.61757	0.0:0.0:0.0:1.0	.	.	.	.	X	246;247;243;223;244	.	ENSP00000343396:K246X	K	-	1	0	ING4	6630633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.625000	0.74248	2.068000	0.61886	0.459000	0.35465	AAG	-	superfamily_Znf_FYVE_PHD		0.527	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	protein_coding	OTTHUMT00000280467.2	T	NM_198287	-		6760372	-1	no_errors	ENST00000396807	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	6760372	T	A	6760372	4	1	72	1	0	0	0	0	0	1	0	0	7740	1792	62	5	14	5	ING4	12	6760372	Nonsense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09		6760372	127091523	48	3925											
FMNL3	91010	genome.wustl.edu	37	chr12	50050265	50050265	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagctgccagaagctctaaGacaagggctttggtcctaag	11	10	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:50050265G>T	ENST00000293590.5	-	9	1040	c.807C>A	c.(805-807)gtC>gtA	p.V269V	FMNL3_ENST00000335154.5_Silent_p.V269V|FMNL3_ENST00000550488.1_Silent_p.V269V|FMNL3_ENST00000352151.5_Silent_p.V218V			Q8IVF7	FMNL3_HUMAN	formin-like 3	269	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GAAGCTCTAAGACAAGGGCTT	0.493																																																	0								ENSG00000161791						69	70	70					12																	50050265		2041	4218	6259	FMNL3	SO:0001819	synonymous_variant	0			-	HGNC	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.807C>A	12.37:g.50050265G>T		Somatic	0	137	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	58	45.79	B0JZA7|Q6ZRJ1	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.V269	ENST00000293590.5	37	c.807		12																																																																																			-	pfam_GTPase-bd,superfamily_ARM-type_fold		0.493	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	protein_coding		G	NM_175736	-		50050265	-1	no_errors	ENST00000293590	ensembl	human	known	74_37	silent	SNP	0.998	T	T	50050265	G	T	50050265	2	4	72	1	0	0	0	0	0	0	0	1	5955	929	33	3		3	FMNL3	12	50050265	Silent	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	43289893	50050265	83801630	49	3926											
KRT83	3889	genome.wustl.edu	37	chr12	52708514	52708514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccaggttcccgttgcaGggggcactgcagacgctgcc	13	15	0	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:52708514G>A	ENST00000293670.3	-	9	1445	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	AC121757.1_ENST00000594763.1_5'Flank	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	461	Tail.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCGTTGCAGGGGGCACTGC	0.667																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0								ENSG00000170523						26	23	24					12																	52708514		2197	4298	6495	KRT83	SO:0001819	synonymous_variant	0			-	HGNC	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1383C>T	12.37:g.52708514G>A		Somatic	0	140	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	98	22.83	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.P461	ENST00000293670.3	37	c.1383	CCDS8823.1	12																																																																																			-	NULL		0.667	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	protein_coding	OTTHUMT00000405182.1	G	NM_002282	-		52708514	-1	no_errors	ENST00000293670	ensembl	human	known	74_37	silent	SNP	0.984	A	A	52708514	G	A	52708514	2	1	72	1	0	0	0	0	0	0	0	1	8499	987	35	2		2	KRT83	12	52708514	Silent	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	2658249	52708514	81143381	50	3927											
AVIL	10677	genome.wustl.edu	37	chr12	58204272	58204272	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctccttgtctccctcgatCactcctattttagcacggcc	6	17	2	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:58204272C>G	ENST00000257861.3	-	6	1051	c.621G>C	c.(619-621)gtG>gtC	p.V207V	AVIL_ENST00000537081.1_Silent_p.V200V	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	207	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCCCTCGATCACTCCTATTT	0.562																																																	0								ENSG00000135407						115	100	105					12																	58204272		2203	4300	6503	AVIL	SO:0001819	synonymous_variant	0			-	HGNC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.621G>C	12.37:g.58204272C>G		Somatic	0	68	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	492	88	84.83	B2RAU7|Q2NKM9	Silent	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.V207	ENST00000257861.3	37	c.621	CCDS8959.1	12																																																																																			-	pfam_Gelsolin_dom,smart_Villin/Gelsolin		0.562	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	protein_coding	OTTHUMT00000409276.1	C	NM_006576	-		58204272	-1	no_errors	ENST00000257861	ensembl	human	known	74_37	silent	SNP	1.000	G	G	58204272	C	G	58204272	2	3	72	1	0	0	0	0	0	0	0	1	1227	813	29	4		4	AVIL	12	58204272	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	5495758	58204272	75647623	51	3928											
XRCC6BP1	91419	genome.wustl.edu	37	chr12	58335516	58335525	+	Frame_Shift_Del	DEL	GCCCCGCGGC	GCCCCGCGGC	-													tccggacgagcgccggcgggGccccgcggcaggggagcagc					rs369268420		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	GCCCCGCGGC	GCCCCGCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:58335516_58335525delGCCCCGCGGC	ENST00000300145.3	+	1	157_166	c.32_41delGCCCCGCGGC	c.(31-42)ggccccgcggcafs	p.GPAA11fs		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	11					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						cgccggcggggccccgcggcAGGGGAGCAG	0.686																																																	0								ENSG00000166896																																			XRCC6BP1	SO:0001589	frameshift_variant	0				HGNC	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"Ku70 binding protein 3"					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.32_41delGCCCCGCGGC	12.37:g.58335516_58335525delGCCCCGCGGC	ENSP00000300145:p.Gly11fs	Somatic					0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q1RLM4|Q96E81	Frame_Shift_Del	DEL							pfam_Peptidase_M76_ATP23	p.G11fs	ENST00000300145.3	37	c.32_41	CCDS41802.1	12																																																																																			-	NULL		0.686	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC6BP1	protein_coding	OTTHUMT00000409390.1	GCCCCGCGGC	NM_033276			58335525	1	no_errors	ENST00000300145	ensembl	human	known	74_37	frame_shift_del	DEL	0.092:0.099:0.094:0.074:0.002:0.002:0.000:0.001:0.003:0.000	-	-	58335525	GCCCCGCGGC	-	58335516	7	5	72	1	0	1	0	1	0	0	0	0	17465	1203	42	0	34	0	XRCC6BP1	12	58335516	Frame_Shift_Del	DEL	GCCCCGCGGC	TCGA-DX-A6BF-01A-11D-A307-09	131244	58335516	75516379	52	3929											
MON2	23041	genome.wustl.edu	37	chr12	62931931	62931931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtgccttgaaacctgGgagagctgtagaaggaccca	15	9	0	3			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:62931931G>T	ENST00000393632.2	+	17	2565	c.2174G>T	c.(2173-2175)gGg>gTg	p.G725V	MON2_ENST00000552115.1_Missense_Mutation_p.G725V|MON2_ENST00000393630.3_Missense_Mutation_p.G725V|MON2_ENST00000546600.1_Missense_Mutation_p.G725V|MON2_ENST00000393629.2_Missense_Mutation_p.G725V|MON2_ENST00000280379.6_Missense_Mutation_p.G725V|MON2_ENST00000552738.1_Missense_Mutation_p.G702V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	725					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAAACCTGGGAGAGCTGTA	0.358																																																	0								ENSG00000061987						52	63	59					12																	62931931		2203	4300	6503	MON2	SO:0001583	missense	0			-	HGNC		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2174G>T	12.37:g.62931931G>T	ENSP00000377252:p.Gly725Val	Somatic	0	162	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	116	737	13.60	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.G725V	ENST00000393632.2	37	c.2174	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861111	0.71949	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.38;0.36;0.4	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	L	0.58101	1.795	0.80722	D	1	P;P;B;P	0.50528	0.604;0.724;0.39;0.936	B;B;B;P	0.48921	0.205;0.284;0.439;0.595	T	0.58335	-0.7654	9	.	.	.	-11.5637	19.4611	0.94918	0.0:0.0:1.0:0.0	.	725;702;725;725	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	V	725;725;725;725;653;702;725;725	ENSP00000377252:G725V;ENSP00000377250:G725V;ENSP00000280379:G725V;ENSP00000447407:G725V;ENSP00000449215:G702V;ENSP00000377249:G725V;ENSP00000446635:G725V	.	G	+	2	0	MON2	61218198	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.718000	0.84743	2.657000	0.90304	0.655000	0.94253	GGG	-	NULL		0.358	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	protein_coding	OTTHUMT00000406767.3	G	NM_015026	-		62931931	1	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62931931	G	T	62931931	3	4	72	1	0	0	0	0	1	0	0	0	9702	1232	43	3	2240	3	MON2	12	62931931	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	4596415	62931931	70919964	53	3930											
DPY19L2	283417	genome.wustl.edu	37	chr12	63991687	63991687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctataagatcactcaggcGaatctgggagaaaataaagt	10	6	3	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:63991687G>A	ENST00000324472.4	-	14	1546	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	455					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCACTCAGGCGAATCTGGGAG	0.313																																																	0								ENSG00000177990						35	39	38					12																	63991687		2195	4277	6472	DPY19L2	SO:0001583	missense	0			-	HGNC		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1363C>T	12.37:g.63991687G>A	ENSP00000315988:p.Arg455Cys	Somatic	1	135	0.74		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	1866	1411	56.92	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP							pfam_Dpy-19	p.R455C	ENST00000324472.4	37	c.1363	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639038	0.29157	.	.	ENSG00000177990	ENST00000324472;ENST00000541083	T;T	0.56275	0.47;0.47	3.14	3.14	0.36123	.	0.175210	0.49305	D	0.000149	T	0.34978	0.0916	.	.	.	0.80722	D	1	B	0.22080	0.064	B	0.18561	0.022	T	0.12708	-1.0537	8	.	.	.	.	9.9551	0.41661	0.0:0.0:1.0:0.0	.	455	Q6NUT2	D19L2_HUMAN	C	455;121	ENSP00000315988:R455C;ENSP00000443126:R121C	.	R	-	1	0	DPY19L2	62277954	1.000000	0.71417	0.964000	0.40570	0.846000	0.48090	2.984000	0.49353	1.748000	0.51833	0.580000	0.79431	CGC	-	pfam_Dpy-19		0.313	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	protein_coding	OTTHUMT00000400689.2	G	NM_173812	-		63991687	-1	no_errors	ENST00000324472	ensembl	human	known	74_37	missense	SNP	0.996	A	A	63991687	G	A	63991687	3	1	72	1	0	0	0	0	1	0	0	0	4743	1058	37	1	949	1	DPY19L2	12	63991687	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	1059756	63991687	69860208	54	3931											
HELB	92797	genome.wustl.edu	37	chr12	66725161	66725161	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacctccagcagattttccGtccccacggaagagctctgg	10	15	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:66725161G>T	ENST00000247815.4	+	12	2957	c.2898G>T	c.(2896-2898)ccG>ccT	p.P966P		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	966			P -> L (in dbSNP:rs1185244). {ECO:0000269|PubMed:14702039}.		DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CAGATTTTCCGTCCCCACGGA	0.498																																																	0								ENSG00000127311						68	61	63					12																	66725161		2203	4300	6503	HELB	SO:0001819	synonymous_variant	0			-	HGNC	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2898G>T	12.37:g.66725161G>T		Somatic	0	52	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP							superfamily_P-loop_NTPase	p.P966	ENST00000247815.4	37	c.2898	CCDS8976.1	12																																																																																			-	NULL		0.498	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	protein_coding	OTTHUMT00000401919.1	G		-		66725161	1	no_errors	ENST00000247815	ensembl	human	known	74_37	silent	SNP	0.000	T	T	66725161	G	T	66725161	2	4	72	1	0	0	0	0	0	0	0	1	7047	1132	40	3		3	HELB	12	66725161	Silent	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	2733474	66725161	67126734	55	3932											
CAND1	55832	genome.wustl.edu	37	chr12	67675783	67675786	+	Frame_Shift_Del	DEL	GAAG	GAAG	-													aaagtagtgaaaatgattttGaagttattggaagataaaaa							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	GAAG	GAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:67675783_67675786delGAAG	ENST00000545606.1	+	2	599_602	c.162_165delGAAG	c.(160-165)ttgaagfs	p.LK54fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	54					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)		AAATGATTTTGAAGTTATTGGAAG	0.363																																																	0								ENSG00000111530																																			CAND1	SO:0001589	frameshift_variant	0				HGNC		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.162_165delGAAG	12.37:g.67675783_67675786delGAAG	ENSP00000442318:p.Leu54fs	Somatic	0	115	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	479	13.38	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L54fs	ENST00000545606.1	37	c.162_165	CCDS8977.1	12																																																																																			-	pfam_HEAT,superfamily_ARM-type_fold		0.363	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	GAAG	NM_018448			67675786	1	no_errors	ENST00000545606	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	67675786	GAAG	-	67675783	7	5	72	1	0	1	0	1	0	0	0	0	2617	1281	45	0	168	0	CAND1	12	67675783	Frame_Shift_Del	DEL	GAAG	TCGA-DX-A6BF-01A-11D-A307-09	950622	67675783	66176112	56	3933	54	2									
CAND1	55832	genome.wustl.edu	37	chr12	67675789	67675790	+	Frame_Shift_Ins	INS	-	-	G													tgaaaatgattttgaagttaINSttggaagataaaaatggaga							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:67675789_67675790insG	ENST00000545606.1	+	2	605_606	c.168_169insG	c.(169-171)ttgfs	p.L57fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	57					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)		TTTTGAAGTTATTGGAAGATAA	0.361																																																	0								ENSG00000111530																																			CAND1	SO:0001589	frameshift_variant	0				HGNC		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	Exception_encountered	12.37:g.67675789_67675790insG	ENSP00000442318:p.Leu57fs	Somatic	0	120	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	510	12.97	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Ins	INS							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L56fs	ENST00000545606.1	37	c.168_169	CCDS8977.1	12																																																																																			-	pfam_HEAT,superfamily_ARM-type_fold		0.361	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	-	NM_018448			67675790	1	no_errors	ENST00000545606	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	G	G	67675790	-	G	67675789	7	5	72	1	0	1	1	0	0	0	0	0	2617	446	16	0	174	0	CAND1	12	67675789	Frame_Shift_Ins	INS	-	TCGA-DX-A6BF-01A-11D-A307-09	6	67675789	66176106	57	3934	54	2									
CAPS2	84698	genome.wustl.edu	37	chr12	75678836	75678836	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccattgccattgtcattcaGaattagccatgcagactcaa	7	11	3	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:75678836G>A	ENST00000409445.3	-	16	1673	c.1477C>T	c.(1477-1479)Ctg>Ttg	p.L493L	CAPS2_ENST00000393284.3_Silent_p.L261L|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Silent_p.L83L|CAPS2_ENST00000409799.1_Silent_p.L411L|RP11-560G2.1_ENST00000549953.1_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	493	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTGTCATTCAGAATTAGCCAT	0.333																																																	0								ENSG00000180881						132	120	124					12																	75678836		2202	4298	6500	CAPS2	SO:0001819	synonymous_variant	0			-	HGNC	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1477C>T	12.37:g.75678836G>A		Somatic	0	78	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	481	1793	21.15	Q6PH84|Q8N242|Q8NAY5	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.L493	ENST00000409445.3	37	c.1477	CCDS9008.2	12																																																																																			-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.333	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	protein_coding	OTTHUMT00000327880.2	G		-		75678836	-1	no_errors	ENST00000409445	ensembl	human	known	74_37	silent	SNP	0.948	A	A	75678836	G	A	75678836	2	1	72	1	0	0	0	0	0	0	0	1	2640	933	33	2		2	CAPS2	12	75678836	Silent	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	8003047	75678836	58173059	58	3935											
KRR1	11103	genome.wustl.edu	37	chr12	75905323	75905323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcttcggcttctggttacGaaattcactttttccagcgc	9	12	2	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:75905323G>A	ENST00000229214.4	-	1	78	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	KRR1_ENST00000438169.2_Missense_Mutation_p.R19C	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	19					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTCTGGTTACGAAATTCACTT	0.502																																																	0								ENSG00000111615						117	107	110					12																	75905323		2203	4300	6503	KRR1	SO:0001583	missense	0			-	HGNC	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.55C>T	12.37:g.75905323G>A	ENSP00000229214:p.Arg19Cys	Somatic	0	79	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	269	744	26.55	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom	p.R19C	ENST00000229214.4	37	c.55	CCDS9012.1	12	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221026	0.58560	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.51071	0.73;0.72	4.27	4.27	0.50696	.	0.389989	0.24645	N	0.036769	T	0.56108	0.1963	M	0.83603	2.65	0.28453	N	0.916252	D;D;D	0.61697	0.987;0.975;0.99	P;B;B	0.47015	0.534;0.333;0.425	T	0.62072	-0.6931	10	0.87932	D	0	16.4917	12.5093	0.55999	0.0:0.0:1.0:0.0	.	19;19;19	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	C	19	ENSP00000229214:R19C;ENSP00000411740:R19C	ENSP00000229214:R19C	R	-	1	0	KRR1	74191590	0.260000	0.24053	0.387000	0.26183	0.134000	0.20937	2.168000	0.42424	2.661000	0.90470	0.650000	0.86243	CGT	-	NULL		0.502	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRR1	protein_coding	OTTHUMT00000405727.1	G	NM_007043	-		75905323	-1	no_errors	ENST00000229214	ensembl	human	known	74_37	missense	SNP	0.414	A	A	75905323	G	A	75905323	3	1	72	1	0	0	0	0	1	0	0	0	8448	1058	37	1	1130	1	KRR1	12	75905323	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	226487	75905323	57946572	59	3936											
NAV3	89795	genome.wustl.edu	37	chr12	78515848	78515848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtctggagtcaccgtcgtCcggtacgggcagcatgggca	15	12	2	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:78515848C>A	ENST00000397909.2	+	16	4051	c.3878C>A	c.(3877-3879)tCc>tAc	p.S1293Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S1293Y|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1293Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1293	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACCGTCGTCCGGTACGGGC	0.532										HNSCC(70;0.22)																																							0								ENSG00000067798						50	51	51					12																	78515848		2108	4229	6337	NAV3	SO:0001583	missense	0			-	HGNC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3878C>A	12.37:g.78515848C>A	ENSP00000381007:p.Ser1293Tyr	Somatic	0	55	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	193	1505	11.37	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP							pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1293Y	ENST00000397909.2	37	c.3878		12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421873	0.83559	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.29655	1.57;1.58;1.56	5.96	5.96	0.96718	.	0.000000	0.38326	U	0.001739	T	0.53818	0.1820	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.961;0.997;0.952	T	0.50092	-0.8868	10	0.72032	D	0.01	-13.2083	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1293;1293;1293	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	Y	1293	ENSP00000446132:S1293Y;ENSP00000381007:S1293Y;ENSP00000228327:S1293Y	ENSP00000228327:S1293Y	S	+	2	0	NAV3	77039979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.590000	0.82653	2.814000	0.96858	0.655000	0.94253	TCC	-	NULL		0.532	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	C	NM_001024383	-		78515848	1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78515848	C	A	78515848	3	1	72	1	0	0	0	0	1	0	0	0	10187	855	30	3	3940	3	NAV3	12	78515848	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	2610525	78515848	55336047	60	3937											
C12orf63	144535	genome.wustl.edu	37	chr12	97043825	97043825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggatcattttatgaaaaTctttttatactgcaggagag	8	4	2	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:97043825T>G	ENST00000524981.4	+	35	4870	c.4847T>G	c.(4846-4848)aTc>aGc	p.I1616S				Q96N23	CL055_HUMAN		0																	TTTATGAAAATCTTTTTATAC	0.368																																																	0								ENSG00000188596						111	116	114					12																	97043825		2203	4300	6503	C12orf55	SO:0001583	missense	0			-	HGNC																												ENST00000524981.4:c.4847T>G	12.37:g.97043825T>G	ENSP00000431759:p.Ile1616Ser	Somatic	0	136	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	181	15.42		Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.I1616S	ENST00000524981.4	37	c.4847		12	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915735	0.33815	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.75	3.09	0.35607	.	0.194613	0.35646	N	0.003080	T	0.38746	0.1052	L	0.55481	1.735	0.30000	N	0.816127	P	0.49358	0.923	B	0.43916	0.436	T	0.42799	-0.9430	9	0.56958	D	0.05	-5.1623	8.9103	0.35548	0.0:0.1726:0.0:0.8274	.	41	Q6ZTY8	CL063_HUMAN	S	1616;41	.	ENSP00000345466:I41S	I	+	2	0	C12orf63	95567956	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	1.441000	0.35035	1.019000	0.39547	0.533000	0.62120	ATC	-	NULL		0.368	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	T		-		97043825	1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	SNP	0.972	G	G	97043825	T	G	97043825	3	3	72	1	0	0	0	0	1	0	0	0	1708	1435	50	5	124	5	C12orf63	12	97043825	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	18527977	97043825	36808070	61	3938											
NR1H4	9971	genome.wustl.edu	37	chr12	100926316	100926316	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgatggatatgtacatgCgaagaaagtgtcaagagtgt	14	3	1	3	rs113090017		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr12:100926316C>T	ENST00000551379.1	+	3	584	c.556C>T	c.(556-558)Cga>Tga	p.R186*	NR1H4_ENST00000392986.3_Nonsense_Mutation_p.R176*|NR1H4_ENST00000548884.1_Nonsense_Mutation_p.R176*|NR1H4_ENST00000188403.7_Nonsense_Mutation_p.R186*|NR1H4_ENST00000549996.1_Intron			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	186					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TATGTACATGCGAAGAAAGTG	0.408																																																	0								ENSG00000012504						213	189	197					12																	100926316		2203	4300	6503	NR1H4	SO:0001587	stop_gained	0			-	HGNC	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.556C>T	12.37:g.100926316C>T	ENSP00000447149:p.Arg186*	Somatic	0	159	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	695	149	82.15	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Nonsense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.R186*	ENST00000551379.1	37	c.556	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.639807	0.97726	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000551379;ENST00000188403	.	.	.	5.67	-0.234	0.13074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6076	0.88042	0.6927:0.3073:0.0:0.0	.	.	.	.	X	176;176;186;186	.	ENSP00000188403:R186X	R	+	1	2	NR1H4	99450447	0.997000	0.39634	0.575000	0.28536	0.909000	0.53808	0.545000	0.23268	-0.168000	0.10853	-1.367000	0.01198	CGA	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.408	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	protein_coding	OTTHUMT00000409140.1	C	NM_005123	-		100926316	1	no_errors	ENST00000551379	ensembl	human	known	74_37	nonsense	SNP	0.997	T	T	100926316	C	T	100926316	4	4	72	1	0	0	0	0	0	1	0	0	10621	760	27	1	536	1	NR1H4	12	100926316	Nonsense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	3882491	100926316	32925579	62	3939											
RNASE10	338879	genome.wustl.edu	37	chr14	20979050	20979050	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcatagcccagtatgcattCatccatgaggatctaaacac	7	11	2	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr14:20979050C>A	ENST00000328444.5	+	1	439	c.420C>A	c.(418-420)ttC>ttA	p.F140L	RNASE10_ENST00000430083.1_Missense_Mutation_p.F168L	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	140					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AGTATGCATTCATCCATGAGG	0.458																																																	0								ENSG00000182545						136	98	111					14																	20979050		2203	4300	6503	RNASE10	SO:0001583	missense	0			-	HGNC		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"Ribonucleases, RNase A"	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.420C>A	14.37:g.20979050C>A	ENSP00000333358:p.Phe140Leu	Somatic	0	36	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	A2RUQ3|B4DKY4	Missense_Mutation	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.F140L	ENST00000328444.5	37	c.420	CCDS32035.1	14	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191938	0.38707	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.38240	1.15;1.15	4.82	1.71	0.24356	Ribonuclease A, domain (3);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.87547	2.89	0.33160	D	0.54679	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.66913	-0.5803	10	0.87932	D	0	-9.3092	6.523	0.22285	0.0:0.6737:0.0:0.3263	.	140;168	Q5GAN6;B4DKY4	RNS10_HUMAN;.	L	168;140	ENSP00000392996:F168L;ENSP00000333358:F140L	ENSP00000333358:F140L	F	+	3	2	RNASE10	20048890	1.000000	0.71417	0.993000	0.49108	0.038000	0.13279	0.734000	0.26101	0.632000	0.30432	0.655000	0.94253	TTC	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA		0.458	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE10	protein_coding	OTTHUMT00000411088.1	C	XM_292225	-		20979050	1	no_errors	ENST00000328444	ensembl	human	known	74_37	missense	SNP	0.995	A	A	20979050	C	A	20979050	3	1	72	1	0	0	0	0	1	0	0	0	13408	825	29	3	422	3	RNASE10	14	20979050	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		20979050	86370490	63	3940											
RNF31	55072	genome.wustl.edu	37	chr14	24620802	24620802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgagctacagcgccaaCgcctagagcccttccgccag	10	16	0	3	rs374504041		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr14:24620802C>T	ENST00000324103.6	+	10	2166	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	RNF31_ENST00000559275.1_Missense_Mutation_p.R465C|RNF31_ENST00000382687.3_Missense_Mutation_p.R465C|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R91C	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	616	Interaction with RBCK1.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACAGCGCCAACGCCTAGAGCC	0.647																																																	0								ENSG00000092098	C	CYS/ARG	0,3998		0,0,1999	44	47	46		1846	5.4	1	14		46	1,8339		0,1,4169	no	missense	RNF31	NM_017999.4	180	0,1,6168	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	616/1073	24620802	1,12337	1999	4170	6169	RNF31	SO:0001583	missense	0			-	HGNC	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1846C>T	14.37:g.24620802C>T	ENSP00000315112:p.Arg616Cys	Somatic	0	66	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	66	24.14	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP							pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.R616C	ENST00000324103.6	37	c.1846	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317757	0.81469	0.0	1.2E-4	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.45276	0.9;0.9	5.42	5.42	0.78866	.	0.070986	0.64402	D	0.000014	T	0.50871	0.1641	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.76494	0.965;0.999;0.999	B;P;P	0.56700	0.443;0.549;0.804	T	0.50964	-0.8765	10	0.72032	D	0.01	-14.5947	18.1527	0.89679	0.0:1.0:0.0:0.0	.	375;616;465	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	C	616;465	ENSP00000315112:R616C;ENSP00000372134:R465C	ENSP00000315112:R616C	R	+	1	0	RNF31	23690642	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.462000	0.53042	2.819000	0.97034	0.655000	0.94253	CGC	-	superfamily_DEATH-like_dom		0.647	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	protein_coding	OTTHUMT00000071921.3	C	NM_017999	-		24620802	1	no_errors	ENST00000324103	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24620802	C	T	24620802	3	4	72	1	0	0	0	0	1	0	0	0	13495	536	19	1	1884	1	RNF31	14	24620802	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	3641752	24620802	82728738	64	3941											
SLC35F4	341880	genome.wustl.edu	37	chr14	58063546	58063546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatgtgatataccgcaaaGcccattgcctgctgccagct	8	13	0	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr14:58063546G>A	ENST00000339762.6	-	1	69	c.70C>T	c.(70-72)Ctt>Ttt	p.L24F	SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	24					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATACCGCAAAGCCCATTGCCT	0.418																																																	0								ENSG00000151812						78	79	79					14																	58063546		2012	4190	6202	SLC35F4	SO:0001583	missense	0			-	HGNC			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.70C>T	14.37:g.58063546G>A	ENSP00000342518:p.Leu24Phe	Somatic	0	99	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	82	31.67	A6NDQ3	Missense_Mutation	SNP							pfam_DMT,pfam_SLC35_F1/F2/F6	p.L24F	ENST00000339762.6	37	c.70		14	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191738	0.21954	.	.	ENSG00000151812	ENST00000339762	T	0.53640	0.61	4.01	0.683	0.17998	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.29488	-1.0010	8	0.59425	D	0.04	.	1.6694	0.02808	0.1394:0.189:0.4771:0.1944	.	24	A4IF30	S35F4_HUMAN	F	24	ENSP00000342518:L24F	ENSP00000342518:L24F	L	-	1	0	SLC35F4	57133299	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.280000	0.02804	0.113000	0.18004	0.557000	0.71058	CTT	-	NULL		0.418	SLC35F4-201	KNOWN	basic	protein_coding	SLC35F4	protein_coding		G	XM_292260	-		58063546	-1	no_errors	ENST00000339762	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58063546	G	A	58063546	3	1	72	1	0	0	0	0	1	0	0	0	14599	971	34	2	1527	2	SLC35F4	14	58063546	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	33442744	58063546	49285994	65	3942											
HDGFRP3	50810	genome.wustl.edu	37	chr15	83826716	83826716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacaatccttcgttaaatCctttccgtttgtttgacttt	4	12	0	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr15:83826716C>T	ENST00000299633.4	-	3	842	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		80					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCGTTAAATCCTTTCCGTTT	0.368																																																	0								ENSG00000166503						155	138	144					15																	83826716		2203	4300	6503	HDGFRP3	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000299633.4:c.239G>A	15.37:g.83826716C>T	ENSP00000299633:p.Gly80Glu	Somatic	0	250	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	109	155	41.29		Missense_Mutation	SNP							pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.G80E	ENST00000299633.4	37	c.239	CCDS32314.1	15	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951441	0.92660	.	.	ENSG00000166503	ENST00000299633	T	0.70164	-0.46	5.28	5.28	0.74379	PWWP (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.89904	3.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86817	0.2002	10	0.48119	T	0.1	.	19.2734	0.94019	0.0:1.0:0.0:0.0	.	80	Q9Y3E1	HDGR3_HUMAN	E	80	ENSP00000299633:G80E	ENSP00000299633:G80E	G	-	2	0	AC024270.1	81617720	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.702000	0.84576	2.629000	0.89072	0.563000	0.77884	GGA	-	pfam_PWWP_dom		0.368	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFRP3	protein_coding	OTTHUMT00000419898.1	C		-		83826716	-1	no_errors	ENST00000299633	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83826716	C	T	83826716	3	4	72	1	0	0	0	0	1	0	0	0	7023	855	30	2	388	2	HDGFRP3	15	83826716	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		83826716	18704676	66	3943											
ABCA3	21	genome.wustl.edu	37	chr16	2338234	2338234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgacgcaggtcagagGcaccaggacctgtgccgcca	15	13	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr16:2338234G>T	ENST00000301732.5	-	21	3497	c.2797C>A	c.(2797-2799)Cct>Act	p.P933T	ABCA3_ENST00000382381.3_Missense_Mutation_p.P875T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	933					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGGTCAGAGGCACCAGGACC	0.627																																																	0								ENSG00000167972						51	42	45					16																	2338234		2196	4298	6494	ABCA3	SO:0001583	missense	0			-	HGNC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2797C>A	16.37:g.2338234G>T	ENSP00000301732:p.Pro933Thr	Somatic	0	96	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	84	23.64	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P933T	ENST00000301732.5	37	c.2797	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882623	0.51908	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.93426	-3.22	5.54	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	M	0.85710	2.77	0.80722	D	1	B;D	0.76494	0.417;0.999	P;D	0.76575	0.472;0.988	D	0.96176	0.9127	10	0.44086	T	0.13	.	12.9976	0.58657	0.0775:0.0:0.9225:0.0	.	937;933	Q4LE27;Q99758	.;ABCA3_HUMAN	T	933;937	ENSP00000301732:P933T	ENSP00000301732:P933T	P	-	1	0	ABCA3	2278235	1.000000	0.71417	0.245000	0.24217	0.277000	0.26821	9.331000	0.96430	1.570000	0.49709	0.655000	0.94253	CCT	-	NULL		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	protein_coding	OTTHUMT00000250784.2	G	NM_001089	-		2338234	-1	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2338234	G	T	2338234	3	4	72	1	0	0	0	0	1	0	0	0	33	1203	42	3	2369	3	ABCA3	16	2338234	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09		2338234	88016519	67	3944											
PHF12	57649	genome.wustl.edu	37	chr17	27246285	27246285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggatgagaggagccacaCggcaactcctgcaaaaaaga	11	10	0	2	rs202119121		TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr17:27246285C>T	ENST00000332830.4	-	6	1655	c.845G>A	c.(844-846)cGt>cAt	p.R282H	PHF12_ENST00000577226.1_Missense_Mutation_p.R282H|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.R282H	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGAGCCACACGGCAACTCCT	0.517																																																	0								ENSG00000109118						59	50	53					17																	27246285		2203	4300	6503	PHF12	SO:0001583	missense	0			-	HGNC	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.845G>A	17.37:g.27246285C>T	ENSP00000329933:p.Arg282His	Somatic	0	60	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R282H	ENST00000332830.4	37	c.845	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.504816	0.96371	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	T;T;T	0.32753	1.44;1.44;1.44	5.65	5.65	0.86999	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.46885	1.475	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	0.91635	0.998;0.997;0.999;0.998;0.998	T	0.48980	-0.8986	10	0.72032	D	0.01	-16.4675	18.302	0.90167	0.0:1.0:0.0:0.0	.	264;282;282;282;282	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	H	282	ENSP00000329933:R282H;ENSP00000368157:R282H;ENSP00000268756:R282H	ENSP00000268756:R282H	R	-	2	0	PHF12	24270411	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.772000	0.85439	2.679000	0.91253	0.555000	0.69702	CGT	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.517	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	protein_coding	OTTHUMT00000255941.1	C	NM_020889	rs202119121		27246285	-1	no_errors	ENST00000332830	ensembl	human	known	74_37	missense	SNP	0.999	T	T	27246285	C	T	27246285	3	4	72	1	0	0	0	0	1	0	0	0	11825	536	19	1	2235	1	PHF12	17	27246285	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		27246285	53948925	68	3945											
MYO1D	4642	genome.wustl.edu	37	chr17	31094749	31094749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagcaacaactctgaattCggcagcatcattgatagaag	8	9	3	3			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr17:31094749C>T	ENST00000318217.5	-	7	1040	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MYO1D_ENST00000583621.1_Missense_Mutation_p.E246K|MYO1D_ENST00000579584.1_Missense_Mutation_p.E246K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E158K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	246	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E246K(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTCTGAATTCGGCAGCATCA	0.363																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000176658						88	77	81					17																	31094749		2203	4300	6503	MYO1D	SO:0001583	missense	0			-	HGNC	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.736G>A	17.37:g.31094749C>T	ENSP00000324527:p.Glu246Lys	Somatic	0	27	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6H8V3|Q8NHP9	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E246K	ENST00000318217.5	37	c.736	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571597	0.65765	.	.	ENSG00000176658	ENST00000318217	T	0.72835	-0.69	6.0	5.01	0.66863	Myosin head, motor domain (2);	0.187967	0.25099	U	0.033151	T	0.70064	0.3181	M	0.62723	1.935	0.50467	D	0.999873	B;B	0.22080	0.064;0.064	B;B	0.26202	0.067;0.067	T	0.68534	-0.5383	10	0.56958	D	0.05	.	14.8407	0.70220	0.0:0.8553:0.1447:0.0	.	157;246	Q7Z3N6;O94832	.;MYO1D_HUMAN	K	246	ENSP00000324527:E246K	ENSP00000324527:E246K	E	-	1	0	MYO1D	28118862	1.000000	0.71417	0.942000	0.38095	0.967000	0.64934	7.487000	0.81328	1.505000	0.48720	0.655000	0.94253	GAA	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.363	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	protein_coding	OTTHUMT00000447457.1	C		-		31094749	-1	no_errors	ENST00000318217	ensembl	human	known	74_37	missense	SNP	0.985	T	T	31094749	C	T	31094749	3	4	72	1	0	0	0	0	1	0	0	0	10073	893	31	1	2348	1	MYO1D	17	31094749	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	3848464	31094749	50100461	69	3946											
WNK4	65266	genome.wustl.edu	37	chr17	40934869	40934869	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaacatcgtccgcttctatGattcgtggaagtcggtgctg	11	11	1	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr17:40934869G>A	ENST00000246914.5	+	2	733	c.712G>A	c.(712-714)Gat>Aat	p.D238N		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		CCGCTTCTATGATTCGTGGAA	0.597																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								ENSG00000126562						104	91	95					17																	40934869		2203	4300	6503	WNK4	SO:0001583	missense	0			-	HGNC	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.712G>A	17.37:g.40934869G>A	ENSP00000246914:p.Asp238Asn	Somatic	0	92	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	102	30.61	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D238N	ENST00000246914.5	37	c.712	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.394699	0.96009	.	.	ENSG00000126562	ENST00000246914	T	0.27720	1.65	3.97	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.166856	0.28914	N	0.013727	T	0.52677	0.1749	M	0.66297	2.02	0.46376	D	0.999016	D	0.54047	0.964	D	0.65684	0.937	T	0.59177	-0.7503	10	0.72032	D	0.01	-9.3159	16.2013	0.82084	0.0:0.0:1.0:0.0	.	238	Q96J92	WNK4_HUMAN	N	238	ENSP00000246914:D238N	ENSP00000246914:D238N	D	+	1	0	WNK4	38188395	1.000000	0.71417	0.980000	0.43619	0.956000	0.61745	9.616000	0.98359	2.045000	0.60652	0.462000	0.41574	GAT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	protein_coding	OTTHUMT00000452389.1	G		-		40934869	1	no_errors	ENST00000246914	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40934869	G	A	40934869	3	1	72	1	0	0	0	0	1	0	0	0	17387	1290	45	2	718	2	WNK4	17	40934869	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	9840120	40934869	40260341	70	3947											
SIRT7	51547	genome.wustl.edu	37	chr17	79872574	79872574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctgagacaccacatgcTgcacctggaaggcagaacgg	12	11	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr17:79872574T>C	ENST00000328666.6	-	6	547	c.485A>G	c.(484-486)cAg>cGg	p.Q162R		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	162	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACCACATGCTGCACCTGGAA	0.647																																																	0								ENSG00000187531						54	51	52					17																	79872574		2202	4294	6496	SIRT7	SO:0001583	missense	0			-	HGNC	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.485A>G	17.37:g.79872574T>C	ENSP00000329466:p.Gln162Arg	Somatic	0	72	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	64	54.29	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP							pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.Q162R	ENST00000328666.6	37	c.485	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	T	10.06	1.245898	0.22796	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.16743	2.32	4.2	4.2	0.49525	.	0.131711	0.52532	D	0.000076	T	0.08403	0.0209	N	0.04260	-0.245	0.51482	D	0.999926	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.22836	-1.0205	10	0.21014	T	0.42	-24.8158	13.4573	0.61206	0.0:0.0:0.0:1.0	.	162;162	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	R	162;145	ENSP00000329466:Q162R	ENSP00000329466:Q162R	Q	-	2	0	SIRT7	77465866	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	1.450000	0.35134	1.762000	0.52044	0.459000	0.35465	CAG	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.647	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	protein_coding	OTTHUMT00000439961.1	T	NM_016538	-		79872574	-1	no_errors	ENST00000328666	ensembl	human	known	74_37	missense	SNP	1.000	C	C	79872574	T	C	79872574	3	2	72	1	0	0	0	0	1	0	0	0	14351	1580	55	5	737	5	SIRT7	17	79872574	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	38937705	79872574	1322636	71	3948											
MUC16	94025	genome.wustl.edu	37	chr19	9056656	9056656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaggcagcaaatctgTactcagatgatgagtacttt	10	7	2	4			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr19:9056656T>C	ENST00000397910.4	-	3	30993	c.30790A>G	c.(30790-30792)Aca>Gca	p.T10264A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10266	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						AGCAAATCTGTACTCAGATGA	0.463																																																	0								ENSG00000181143						75	76	75					19																	9056656		1990	4143	6133	MUC16	SO:0001583	missense	0			-	HGNC	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.30790A>G	19.37:g.9056656T>C	ENSP00000381008:p.Thr10264Ala	Somatic	0	67	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	67	27.17	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T10264A	ENST00000397910.4	37	c.30790	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	6.422	0.446073	0.12164	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.23	2.21	0.28008	.	.	.	.	.	T	0.04363	0.0120	N	0.19112	0.55	.	.	.	D	0.76494	0.999	D	0.80764	0.994	T	0.39272	-0.9622	8	0.87932	D	0	.	4.8723	0.13639	0.0:0.1418:0.0:0.8582	.	10264	B5ME49	.	A	10264	ENSP00000381008:T10264A	ENSP00000381008:T10264A	T	-	1	0	MUC16	8917656	0.005000	0.15991	0.006000	0.13384	0.033000	0.12548	0.931000	0.28871	0.641000	0.30601	0.378000	0.23410	ACA	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	T	NM_024690	-		9056656	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.007	C	C	9056656	T	C	9056656	3	2	72	1	0	0	0	0	1	0	0	0	9975	1638	57	5	13061	5	MUC16	19	9056656	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09		9056656	50072327	72	3949											
MUC16	94025	genome.wustl.edu	37	chr19	9068845	9068845	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatcattgagatcattgtTcatgacactggttgtttctg	8	8	4	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr19:9068845T>G	ENST00000397910.4	-	3	18804	c.18601A>C	c.(18601-18603)Aac>Cac	p.N6201H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6203	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						AGATCATTGTTCATGACACTG	0.478																																																	0								ENSG00000181143						114	116	116					19																	9068845		2075	4191	6266	MUC16	SO:0001583	missense	0			-	HGNC	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.18601A>C	19.37:g.9068845T>G	ENSP00000381008:p.Asn6201His	Somatic	0	199	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	174	38.16	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.N6201H	ENST00000397910.4	37	c.18601	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	0.889	-0.726098	0.03158	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.09	-2.17	0.07059	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	.	.	.	D	0.53462	0.96	B	0.41299	0.353	T	0.16335	-1.0406	8	0.87932	D	0	.	2.2608	0.04067	0.0:0.2886:0.3088:0.4026	.	6201	B5ME49	.	H	6201	ENSP00000381008:N6201H	ENSP00000381008:N6201H	N	-	1	0	MUC16	8929845	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.365000	0.20348	-0.823000	0.04301	0.317000	0.21355	AAC	-	NULL		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	T	NM_024690	-		9068845	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	G	G	9068845	T	G	9068845	3	3	72	1	0	0	0	0	1	0	0	0	9975	1783	62	5	25250	5	MUC16	19	9068845	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	12189	9068845	50060138	73	3950											
IL27RA	9466	genome.wustl.edu	37	chr19	14161662	14161662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccatcgctggacagggcCctcctggtcccatcctccgg	10	18	0	0			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr19:14161662C>A	ENST00000263379.2	+	11	1620	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	499	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGGACAGGGCCCTCCTGGTCC	0.597																																					Colon(164;1849 1896 4443 37792 47834)												0								ENSG00000104998						88	67	74					19																	14161662		2203	4300	6503	IL27RA	SO:0001583	missense	0			-	HGNC	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1495C>A	19.37:g.14161662C>A	ENSP00000263379:p.Pro499Thr	Somatic	0	95	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	86	22.52	A0N0L1|O60624	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P499T	ENST00000263379.2	37	c.1495	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160515	0.38119	.	.	ENSG00000104998	ENST00000263379	T	0.57595	0.39	4.69	3.66	0.41972	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001368	T	0.48677	0.1513	L	0.32530	0.975	0.24148	N	0.995704	D	0.62365	0.991	P	0.58013	0.831	T	0.32481	-0.9905	10	0.12766	T	0.61	-18.475	7.814	0.29247	0.0:0.8869:0.0:0.1131	.	499	Q6UWB1	I27RA_HUMAN	T	499	ENSP00000263379:P499T	ENSP00000263379:P499T	P	+	1	0	IL27RA	14022662	0.044000	0.20184	0.991000	0.47740	0.052000	0.14988	2.146000	0.42216	2.151000	0.67156	0.461000	0.40582	CCT	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.597	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	protein_coding	OTTHUMT00000458539.1	C	NM_004843	-		14161662	1	no_errors	ENST00000263379	ensembl	human	known	74_37	missense	SNP	0.417	A	A	14161662	C	A	14161662	3	1	72	1	0	0	0	0	1	0	0	0	7683	623	22	3	1537	3	IL27RA	19	14161662	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	5092817	14161662	44967321	74	3951											
CD97	976	genome.wustl.edu	37	chr19	14507287	14507287	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccgaaggtctgcacaggTagaggccccaggaagacgcc	14	12	1	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr19:14507287T>C	ENST00000242786.5	+	5	558		c.e5+2		CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Splice_Site	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCTGCACAGGTAGAGGCCCCA	0.612																																																	0								ENSG00000123146						101	83	89					19																	14507287		2203	4300	6503	CD97	SO:0001630	splice_region_variant	0			-	HGNC		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.478+2T>C	19.37:g.14507287T>C		Somatic	1	182	0.55		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	142	28.14	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Splice_Site	SNP							-	e5+2	ENST00000242786.5	37	c.478+2	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266603	0.23136	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000393059	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3798	0.38306	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD97	14368287	0.962000	0.33011	0.919000	0.36401	0.077000	0.17291	1.078000	0.30754	1.713000	0.51359	0.454000	0.30748	.	-	-		0.612	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	protein_coding	OTTHUMT00000459821.2	T	NM_078481	-	Intron	14507287	1	no_errors	ENST00000242786	ensembl	human	known	74_37	splice_site	SNP	0.995	C	C	14507287	T	C	14507287	5	2	72	1	0	0	0	0	0	0	1	0	3051	1652	57	5	498	5	CD97	19	14507287	Splice_Site	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09	345625	14507287	44621696	75	3952											
LILRA5	353514	genome.wustl.edu	37	chr19	54823155	54823155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaccaccagctccagggGgtcgctgggctctgaccagc	13	15	2	1			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr19:54823155G>T	ENST00000301219.3	-	4	507	c.388C>A	c.(388-390)Ccc>Acc	p.P130T	LILRA5_ENST00000446712.3_Missense_Mutation_p.P118T|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.P130T|LILRA5_ENST00000346508.3_Missense_Mutation_p.P118T	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	130	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCTCCAGGGGGTCGCTGGGC	0.612																																																	0								ENSG00000187116						130	123	126					19																	54823155		2203	4300	6503	LILRA5	SO:0001583	missense	0			-	HGNC	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.388C>A	19.37:g.54823155G>T	ENSP00000301219:p.Pro130Thr	Somatic	1	162	0.61		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	110	38.67	A6NHI3	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2	p.P130T	ENST00000301219.3	37	c.388	CCDS12888.1	19	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239551	0.22711	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	3.16	-2.38	0.06622	Immunoglobulin-like fold (1);	0.357134	0.20065	U	0.099994	T	0.16257	0.0391	M	0.81802	2.56	0.21527	N	0.99965	P;P;P;P	0.48589	0.638;0.48;0.912;0.761	B;B;P;P	0.46299	0.13;0.268;0.511;0.459	T	0.09618	-1.0666	10	0.62326	D	0.03	.	1.8919	0.03249	0.1299:0.3789:0.299:0.1922	.	118;130;118;130	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	T	130;118;118;130	ENSP00000301219:P130T;ENSP00000302948:P118T;ENSP00000389499:P118T;ENSP00000404236:P130T	ENSP00000301219:P130T	P	-	1	0	LILRA5	59514967	0.000000	0.05858	0.232000	0.24009	0.786000	0.44442	-0.947000	0.03901	-0.351000	0.08249	0.411000	0.27672	CCC	-	smart_Ig_sub		0.612	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	protein_coding	OTTHUMT00000140231.1	G	NM_181985	-		54823155	-1	no_errors	ENST00000301219	ensembl	human	known	74_37	missense	SNP	0.668	T	T	54823155	G	T	54823155	3	4	72	1	0	0	0	0	1	0	0	0	8790	1232	43	3	613	3	LILRA5	19	54823155	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	40315868	54823155	4305828	76	3953											
TMC2	117532	genome.wustl.edu	37	chr20	2591222	2591222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacacatttctcttggcccTgatggatgacgtccacctca	7	14	2	2			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chr20:2591222T>G	ENST00000358864.1	+	12	1586	c.1571T>G	c.(1570-1572)cTg>cGg	p.L524R	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	524					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCTTGGCCCTGATGGATGAC	0.488																																																	0								ENSG00000149488						98	80	86					20																	2591222		2203	4300	6503	TMC2	SO:0001583	missense	0			-	HGNC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1571T>G	20.37:g.2591222T>G	ENSP00000351732:p.Leu524Arg	Somatic	0	133	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	158	14.44	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP							pfam_TMC	p.L524R	ENST00000358864.1	37	c.1571	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252978	0.80135	.	.	ENSG00000149488	ENST00000358864	T	0.78246	-1.16	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.98;0.999;0.994;0.989	D	0.91144	0.4948	10	0.87932	D	0	-10.8242	13.3454	0.60571	0.0:0.0:0.0:1.0	.	355;356;524;524	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	R	524	ENSP00000351732:L524R	ENSP00000351732:L524R	L	+	2	0	TMC2	2539222	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.977000	0.88081	2.103000	0.63969	0.528000	0.53228	CTG	-	NULL		0.488	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	protein_coding	OTTHUMT00000077601.2	T		-		2591222	1	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	SNP	1.000	G	G	2591222	T	G	2591222	3	3	72	1	0	0	0	0	1	0	0	0	15992	1580	55	5	1617	5	TMC2	20	2591222	Missense_Mutation	SNP	T	TCGA-DX-A6BF-01A-11D-A307-09		2591222	60434298	77	3954											
KIAA1210	57481	genome.wustl.edu	37	chrX	118221164	118221164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgatgacatctgtggCtggaatttagacctatctga	9	9	2	4			TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chrX:118221164C>T	ENST00000402510.2	-	11	4028	c.4029G>A	c.(4027-4029)caG>caA	p.Q1343Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1343										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACATCTGTGGCTGGAATTTAG	0.483																																																	0								ENSG00000250423						211	199	203					X																	118221164		1931	4138	6069	KIAA1210	SO:0001819	synonymous_variant	0			-	HGNC	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4029G>A	X.37:g.118221164C>T		Somatic	0	122	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	98	20.33	B7ZCI8|Q5JPN4	Silent	SNP							NULL	p.Q1343	ENST00000402510.2	37	c.4029	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	1.808	-0.475486	0.04414	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.38	1.65	0.23941	.	.	.	.	.	T	0.31295	0.0792	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	5.9841	0.19423	0.0:0.6576:0.0:0.3424	.	.	.	.	T	750	.	.	A	-	1	0	KIAA1210	118105192	0.021000	0.18746	0.000000	0.03702	0.010000	0.07245	0.453000	0.21811	0.210000	0.20664	0.513000	0.50165	GCC	-	NULL		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	protein_coding	OTTHUMT00000371251.2	C	NM_020721	-		118221164	-1	no_errors	ENST00000402510	ensembl	human	known	74_37	silent	SNP	0.000	T	T	118221164	C	T	118221164	2	4	72	1	0	0	0	0	0	0	0	1	8216	796	28	2		2	KIAA1210	23	118221164	Silent	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09		118221164	37049396	78	3955											
SOX3	6658	genome.wustl.edu	37	chrX	139586328	139586328	+	Missense_Mutation	SNP	G	G	A													gccggccatgtcgtagcggtGcatcggcggcagcgcgggcg							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chrX:139586328G>A	ENST00000370536.2	-	1	897	c.898C>T	c.(898-900)Cac>Tac	p.H300Y		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	300					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCGTAGCGGTGCATcggcggc	0.736																																																	0								ENSG00000134595						2	3	2					X																	139586328		1471	2999	4470	SOX3	SO:0001583	missense	0			-	HGNC		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.898C>T	X.37:g.139586328G>A	ENSP00000359567:p.His300Tyr	Somatic	0	11	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.H300Y	ENST00000370536.2	37	c.898	CCDS14669.1	X	.	.	.	.	.	.	.	.	.	.	g	15.76	2.929862	0.52759	.	.	ENSG00000134595	ENST00000370536	D	0.98313	-4.86	3.34	3.34	0.38264	.	0.060315	0.64402	U	0.000003	D	0.98394	0.9466	M	0.69358	2.11	0.58432	D	0.999999	D	0.67145	0.996	D	0.72982	0.979	D	0.98216	1.0475	9	.	.	.	.	13.2044	0.59787	0.0:0.0:1.0:0.0	.	300	P41225	SOX3_HUMAN	Y	300	ENSP00000359567:H300Y	.	H	-	1	0	SOX3	139413994	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	8.507000	0.90522	1.515000	0.48885	0.173000	0.16961	CAC	-	NULL		0.736	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	protein_coding	OTTHUMT00000058577.1	G		-		139586328	-1	no_errors	ENST00000370536	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139586328	G	A	139586328	3	1	72	1	0	0	0	0	1	0	0	0	14959	1319	46	2	446	2	SOX3	23	139586328	Missense_Mutation	SNP	G	TCGA-DX-A6BF-01A-11D-A307-09	21365164	139586328	15684232	79	3956	55	2									
SOX3	6658	genome.wustl.edu	37	chrX	139586329	139586329	+	Missense_Mutation	SNP	C	C	T													ccggccatgtcgtagcggtgCatcggcggcagcgcgggcgg							TCGA-DX-A6BF-01A-11D-A307-09	TCGA-DX-A6BF-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09472bd-b614-4330-8621-641bd47c0cdc	af336ff1-8473-43df-b844-5310e7d3e162	g.chrX:139586329C>T	ENST00000370536.2	-	1	896	c.897G>A	c.(895-897)atG>atA	p.M299I		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	299				Missing (in Ref. 2; CAA50465). {ECO:0000305}.	central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CGTAGCGGTGCATcggcggca	0.741																																																	0								ENSG00000134595						2	3	2					X																	139586329		1469	3005	4474	SOX3	SO:0001583	missense	0			-	HGNC		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.897G>A	X.37:g.139586329C>T	ENSP00000359567:p.Met299Ile	Somatic	0	10	0		0.625264586847597				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.M299I	ENST00000370536.2	37	c.897	CCDS14669.1	X	.	.	.	.	.	.	.	.	.	.	c	12.74	2.029407	0.35797	.	.	ENSG00000134595	ENST00000370536	D	0.98120	-4.73	3.34	3.34	0.38264	.	0.098210	0.64402	U	0.000002	D	0.96046	0.8712	M	0.64404	1.975	0.50813	D	0.999896	B	0.28400	0.21	B	0.31869	0.137	D	0.94786	0.7958	9	.	.	.	.	13.2044	0.59787	0.0:1.0:0.0:0.0	.	299	P41225	SOX3_HUMAN	I	299	ENSP00000359567:M299I	.	M	-	3	0	SOX3	139413995	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	6.773000	0.75006	1.515000	0.48885	0.173000	0.16961	ATG	-	NULL		0.741	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	protein_coding	OTTHUMT00000058577.1	C		-		139586329	-1	no_errors	ENST00000370536	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139586329	C	T	139586329	3	4	72	1	0	0	0	0	1	0	0	0	14959	710	25	2	447	2	SOX3	23	139586329	Missense_Mutation	SNP	C	TCGA-DX-A6BF-01A-11D-A307-09	1	139586329	15684231	80	3957	55	2									
CSMD2	114784	genome.wustl.edu	37	chr1	34002679	34002679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaccagggtccgcacaCgtggtcagggtcggatctgg	16	12	2	0	rs61801993	byFrequency	TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr1:34002679C>T	ENST00000373381.4	-	62	9998	c.9822G>A	c.(9820-9822)acG>acA	p.T3274T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCCGCACACGTGGTCAGGG	0.517																																																	0								ENSG00000121904						144	122	129					1																	34002679		2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9822G>A	1.37:g.34002679C>T		Somatic	0	84	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	98	14.04	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3274	ENST00000373381.4	37	c.9822		1																																																																																			-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		C	NM_052896	-		34002679	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	0.656	T	T	34002679	C	T	34002679	2	4	73	1	0	0	0	0	0	0	0	1	3947	523	19	1		1	CSMD2	1	34002679	Silent	SNP	C	TCGA-DX-A6BG-01A-11D-A307-09		34002679	215247942	1	3958											
C1orf173	127254	genome.wustl.edu	37	chr1	75078322	75078322	+	Frame_Shift_Del	DEL	G	G	-													catacttgtagcaaggagatGatctctcaacacacacaaac							TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr1:75078322delG	ENST00000326665.5	-	9	1390	c.1172delC	c.(1171-1173)tcafs	p.S392fs	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Frame_Shift_Del_p.S195fs	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		392										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAAGGAGATGATCTCTCAAC	0.423																																																	0								ENSG00000178965						133	118	123					1																	75078322		2203	4300	6503	C1orf173	SO:0001589	frameshift_variant	0				HGNC																												ENST00000326665.5:c.1172delC	1.37:g.75078322delG	ENSP00000322609:p.Ser392fs	Somatic	0	107	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	111	15.27	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Del	DEL							NULL	p.S391fs	ENST00000326665.5	37	c.1172	CCDS30755.1	1																																																																																			-	NULL		0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	G				75078322	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	75078322	G	-	75078322	7	5	73	1	0	1	0	1	0	0	0	0	2016	1294	45	0	3444	0	C1orf173	1	75078322	Frame_Shift_Del	DEL	G	TCGA-DX-A6BG-01A-11D-A307-09	41075643	75078322	174172299	2	3959											
LOR	4014	genome.wustl.edu	37	chr1	153233982	153233984	+	In_Frame_Del	DEL	TCT	TCT	-													cggcgggggcggcggctctgTctgcggctactctggcggcg							TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr1:153233982_153233984delTCT	ENST00000368742.3	+	2	614_616	c.557_559delTCT	c.(556-561)gtctgc>ggc	p.186_187VC>G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	186					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcggctctgtctgcggctactc	0.744																																																	0								ENSG00000203782			26,716		11,4,356						-3.1	0		dbSNP_120	1	116,1736		32,52,842	no	coding	LOR	NM_000427.2		43,56,1198	A1A1,A1R,RR		6.2635,3.504,5.4742				142,2452				LOR	SO:0001651	inframe_deletion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.557_559delTCT	1.37:g.153233982_153233984delTCT	ENSP00000357731:p.Val186_Cys187delinsGly	Somatic	0	10	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	Q5T869|Q5XKF8	In_Frame_Del	DEL							NULL	p.VC186in_frame_delG	ENST00000368742.3	37	c.557_559	CCDS30870.1	1																																																																																			-	NULL		0.744	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	TCT	NM_000427			153233984	1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.001:0.002	-	-	153233984	TCT	-	153233982	7	5	73	1	0	1	0	1	0	0	0	0	8899	1667	58	0	559	0	LOR	1	153233982	In_Frame_Del	DEL	TCT	TCGA-DX-A6BG-01A-11D-A307-09	78155660	153233982	96016639	3	3960											
ALMS1	7840	genome.wustl.edu	37	chr2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA													ctgccatggccgggcgagctINSggaggaggaggaggaggagg					rs55889738|rs72319667|rs200709146|rs61156725|rs70965731|rs193922695|rs3074417	byFrequency	TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				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)		p.E27_E28delEE(1)|p.E28_A29insE(1)		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						CCGGGCGAGCTggaggaggagg	0.698																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	ovary(1)|breast(1)						ENSG00000116127																																			ALMS1	SO:0001652	inframe_insertion	0				HGNC	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.72_74dupGGA	2.37:g.73613038_73613040dupGGA	ENSP00000264448:p.Glu28_Glu28dup	Somatic	0	41	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS							NULL	p.16in_frame_insE	ENST00000264448.6	37	c.35_36	CCDS42697.1	2																																																																																			-	NULL		0.698	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	-	NM_015120			73613032	1	no_errors	ENST00000264448	ensembl	human	known	74_37	in_frame_ins	INS	0.999:0.989	GGA	GGA	73613032	-	GGA	73613031	7	5	73	1	0	1	1	0	0	0	0	0	535	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-DX-A6BG-01A-11D-A307-09		73613031	169586342	4	3961											
DLX2	1746	genome.wustl.edu	37	chr2	172966994	172966994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggccgctggcttggtaCtggtaggaacccatgtgcgc	15	10	0	1			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr2:172966994C>G	ENST00000234198.4	-	1	634	c.273G>C	c.(271-273)caG>caC	p.Q91H	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_Missense_Mutation_p.Q91H	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	91					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGGCTTGGTACTGGTAGGAAC	0.662																																					GBM(188;775 2993 11256 23072)												0								ENSG00000115844						92	85	88					2																	172966994		2203	4300	6503	DLX2	SO:0001583	missense	0			-	HGNC	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.273G>C	2.37:g.172966994C>G	ENSP00000234198:p.Gln91His	Somatic	0	229	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	373	9.90	B4DMK4|B7ZA14	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q91H	ENST00000234198.4	37	c.273	CCDS2248.1	2	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851678	0.71719	.	.	ENSG00000115844	ENST00000234198;ENST00000466293	D;D	0.93659	-2.79;-3.26	4.61	3.72	0.42706	.	0.060924	0.64402	N	0.000002	D	0.94876	0.8344	M	0.72479	2.2	0.54753	D	0.999983	D;P	0.65815	0.995;0.774	D;B	0.66497	0.944;0.345	D	0.93494	0.6838	10	0.40728	T	0.16	-18.9762	8.7181	0.34423	0.0:0.7585:0.1545:0.087	.	91;91	B7ZA14;Q07687	.;DLX2_HUMAN	H	91	ENSP00000234198:Q91H;ENSP00000446904:Q91H	ENSP00000234198:Q91H	Q	-	3	2	DLX2	172675240	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.446000	0.35090	2.103000	0.63969	0.561000	0.74099	CAG	-	pfam_Distal-less_N		0.662	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	protein_coding	OTTHUMT00000255368.3	C		-		172966994	-1	no_errors	ENST00000234198	ensembl	human	known	74_37	missense	SNP	1.000	G	G	172966994	C	G	172966994	3	3	73	1	0	0	0	0	1	0	0	0	4573	564	20	4	725	4	DLX2	2	172966994	Missense_Mutation	SNP	C	TCGA-DX-A6BG-01A-11D-A307-09	99353963	172966994	70232379	5	3962											
EXOSC7	23016	genome.wustl.edu	37	chr3	45048925	45048925	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagattggctatcggcAtgtggtggatgctactcttc	12	8	1	1	rs141843360		TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr3:45048925A>T	ENST00000265564.7	+	7	677	c.629A>T	c.(628-630)cAt>cTt	p.H210L	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	210					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 catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GGCTATCGGCATGTGGTGGAT	0.617																																																	0								ENSG00000075914						65	55	59					3																	45048925		2203	4300	6503	EXOSC7	SO:0001583	missense	0			-	HGNC	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.629A>T	3.37:g.45048925A>T	ENSP00000265564:p.His210Leu	Somatic	0	53	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	62	10.14	Q96E72	Missense_Mutation	SNP							pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.H210L	ENST00000265564.7	37	c.629	CCDS2725.1	3	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287013	0.40494	.	.	ENSG00000075914	ENST00000265564	T	0.37058	1.22	5.77	5.77	0.91146	Exoribonuclease, phosphorolytic domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.42529	1.33	0.80722	D	1	B;B	0.33528	0.23;0.416	B;B	0.30316	0.054;0.114	T	0.09250	-1.0683	10	0.02654	T	1	-16.023	16.0957	0.81123	1.0:0.0:0.0:0.0	.	210;210	B2RDZ9;Q15024	.;EXOS7_HUMAN	L	210	ENSP00000265564:H210L	ENSP00000265564:H210L	H	+	2	0	EXOSC7	45023929	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.339000	0.96797	2.199000	0.70637	0.533000	0.62120	CAT	-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2		0.617	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC7	protein_coding	OTTHUMT00000256754.2	A	NM_015004	-		45048925	1	no_errors	ENST00000265564	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45048925	A	T	45048925	3	4	73	1	0	0	0	0	1	0	0	0	5321	217	8	5	655	5	EXOSC7	3	45048925	Missense_Mutation	SNP	A	TCGA-DX-A6BG-01A-11D-A307-09		45048925	152973505	6	3963											
SLC4A9	83697	genome.wustl.edu	37	chr5	139745807	139745807	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccttgatgctttcctGggcctagccacaccaaagct	10	13	0	1			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr5:139745807G>T	ENST00000230993.6	+	14	2078	c.2043G>T	c.(2041-2043)ctG>ctT	p.L681L	SLC4A9_ENST00000506757.2_Silent_p.L657L|SLC4A9_ENST00000506545.1_Silent_p.L594L|SLC4A9_ENST00000432095.2_Silent_p.L643L|SLC4A9_ENST00000507527.1_Silent_p.L681L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	681	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTTTCCTGGGCCTAGCCA	0.602																																																	0								ENSG00000113073						44	47	46					5																	139745807		2042	4202	6244	SLC4A9	SO:0001819	synonymous_variant	0			-	HGNC	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2043G>T	5.37:g.139745807G>T		Somatic	0	46	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L681	ENST00000230993.6	37	c.2043	CCDS58973.1	5																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.602	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	G	NM_031467	-		139745807	1	no_errors	ENST00000230993	ensembl	human	known	74_37	silent	SNP	0.997	T	T	139745807	G	T	139745807	2	4	73	1	0	0	0	0	0	0	0	1	14668	1335	47	3		3	SLC4A9	5	139745807	Silent	SNP	G	TCGA-DX-A6BG-01A-11D-A307-09		139745807	41169453	7	3964											
WNK2	65268	genome.wustl.edu	37	chr9	96030314	96030326	+	Frame_Shift_Del	DEL	TCCCAAGCCAACG	TCCCAAGCCAACG	-													tcattcaggagagccgacaaTcccaagccaacgcccccgtg					rs148431579|rs145181072		TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	TCCCAAGCCAACG	TCCCAAGCCAACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr9:96030314_96030326delTCCCAAGCCAACG	ENST00000297954.4	+	17	3880_3892	c.3880_3892delTCCCAAGCCAACG	c.(3880-3894)tcccaagccaacgccfs	p.SQANA1294fs	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Frame_Shift_Del_p.SQANA906fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.SQANA1294fs|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Frame_Shift_Del_p.SQANA906fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1294					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAGCCGACAATCCCAAGCCAACGCCCCCGTGTA	0.587																																																	0								ENSG00000165238																																			WNK2	SO:0001589	frameshift_variant	0				HGNC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3880_3892delTCCCAAGCCAACG	9.37:g.96030314_96030326delTCCCAAGCCAACG	ENSP00000297954:p.Ser1294fs	Somatic					0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S1294fs	ENST00000297954.4	37	c.3880_3892		9																																																																																			-	NULL		0.587	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	TCCCAAGCCAACG	NM_006648			96030326	1	no_errors	ENST00000297954	ensembl	human	known	74_37	frame_shift_del	DEL	0.968:1.000:0.997:1.000:0.962:0.188:0.002:0.001:0.000:0.037:0.042:0.034:0.972	-	-	96030326	TCCCAAGCCAACG	-	96030314	7	5	73	1	0	1	0	1	0	0	0	0	17385	1435	50	0	3946	0	WNK2	9	96030314	Frame_Shift_Del	DEL	TCCCAAGCCAACG	TCGA-DX-A6BG-01A-11D-A307-09		96030314	45183117	8	3965											
KIAA1598	57698	genome.wustl.edu	37	chr10	118689409	118689409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattctgatatttcaaTtccaattcctttttatcttc	2	9	4	2			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr10:118689409T>C	ENST00000355371.4	-	10	1460	c.963A>G	c.(961-963)gaA>gaG	p.E321E	KIAA1598_ENST00000392901.4_Silent_p.E261E|KIAA1598_ENST00000392903.2_Silent_p.E321E|KIAA1598_ENST00000260777.10_Silent_p.E321E|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	321					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GATATTTCAATTCCAATTCCT	0.333																																																	0								ENSG00000187164						188	180	183					10																	118689409		2202	4299	6501	KIAA1598	SO:0001819	synonymous_variant	0			-	HGNC	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.963A>G	10.37:g.118689409T>C		Somatic	0	189	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	188	12.56	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP							superfamily_Adenylate_cyclase-assoc_CAP_N	p.E321	ENST00000355371.4	37	c.963	CCDS44482.1	10																																																																																			-	superfamily_Adenylate_cyclase-assoc_CAP_N		0.333	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	protein_coding		T	NM_018330	-		118689409	-1	no_errors	ENST00000392903	ensembl	human	known	74_37	silent	SNP	0.630	C	C	118689409	T	C	118689409	2	2	73	1	0	0	0	0	0	0	0	1	8248	1490	52	5		5	KIAA1598	10	118689409	Silent	SNP	T	TCGA-DX-A6BG-01A-11D-A307-09		118689409	16845338	9	3966											
FREM2	341640	genome.wustl.edu	37	chr13	39265060	39265060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatgaacagccagagatGtttatgagagaatttatggt	11	3	0	5			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr13:39265060G>A	ENST00000280481.7	+	1	3795	c.3579G>A	c.(3577-3579)atG>atA	p.M1193I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1193					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)		AGCCAGAGATGTTTATGAGAG	0.408																																																	0								ENSG00000150893						236	225	229					13																	39265060		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.3579G>A	13.37:g.39265060G>A	ENSP00000280481:p.Met1193Ile	Somatic	0	75	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.M1193I	ENST00000280481.7	37	c.3579	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520046	0.00967	.	.	ENSG00000150893	ENST00000280481	T	0.42900	0.96	6.07	-0.644	0.11479	.	0.235838	0.49305	N	0.000149	T	0.12050	0.0293	N	0.02357	-0.585	0.31271	N	0.691794	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	10	0.02654	T	1	.	6.7678	0.23576	0.41:0.3003:0.2897:0.0	.	1193	Q5SZK8	FREM2_HUMAN	I	1193	ENSP00000280481:M1193I	ENSP00000280481:M1193I	M	+	3	0	FREM2	38163060	0.021000	0.18746	0.873000	0.34254	0.855000	0.48748	-0.733000	0.04898	-0.137000	0.11455	-0.133000	0.14855	ATG	-	superfamily_Cadherin-like		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	G	NM_207361	-		39265060	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	0.970	A	A	39265060	G	A	39265060	3	1	73	1	0	0	0	0	1	0	0	0	6047	1377	48	2	3581	2	FREM2	13	39265060	Missense_Mutation	SNP	G	TCGA-DX-A6BG-01A-11D-A307-09		39265060	75904818	10	3967											
PROZ	8858	genome.wustl.edu	37	chr13	113826312	113826312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaacacagaggctcctggTttctcacgggggtcctgggc	15	11	1	2			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr13:113826312T>C	ENST00000375547.2	+	8	1103	c.1096T>C	c.(1096-1098)Ttt>Ctt	p.F366L	PROZ_ENST00000342783.4_Missense_Mutation_p.F388L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	366	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGGCTCCTGGTTTCTCACGGG	0.567																																																	0								ENSG00000126231						38	36	36					13																	113826312		2203	4298	6501	PROZ	SO:0001583	missense	0			-	HGNC	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1096T>C	13.37:g.113826312T>C	ENSP00000364697:p.Phe366Leu	Somatic	0	95	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	100	17.74	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP							pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.F366L	ENST00000375547.2	37	c.1096	CCDS9531.1	13	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136400	0.56936	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92858	-3.12;-3.12	3.96	3.96	0.45880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.95647	0.8703	10	0.87932	D	0	.	13.1102	0.59268	0.0:0.0:0.0:1.0	.	388;366	P22891-2;P22891	.;PROZ_HUMAN	L	366;388	ENSP00000364697:F366L;ENSP00000344458:F388L	ENSP00000344458:F388L	F	+	1	0	PROZ	112874313	1.000000	0.71417	0.995000	0.50966	0.083000	0.17756	3.541000	0.53618	1.540000	0.49301	0.260000	0.18958	TTT	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.567	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	protein_coding	OTTHUMT00000045845.1	T	NM_003891	-		113826312	1	no_errors	ENST00000375547	ensembl	human	known	74_37	missense	SNP	1.000	C	C	113826312	T	C	113826312	3	2	73	1	0	0	0	0	1	0	0	0	12567	1725	60	5	1126	5	PROZ	13	113826312	Missense_Mutation	SNP	T	TCGA-DX-A6BG-01A-11D-A307-09	74561252	113826312	1343566	11	3968											
ZNF710	374655	genome.wustl.edu	37	chr15	90617472	90617472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaagggcaacctgagccGgcacatgaaggtcaagcatg	12	11	2	2			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr15:90617472G>A	ENST00000268154.4	+	4	2026	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	592					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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AACCTGAGCCGGCACATGAAG	0.577																																																	0								ENSG00000140548						57	50	52					15																	90617472		2200	4298	6498	ZNF710	SO:0001583	missense	0			-	HGNC	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1775G>A	15.37:g.90617472G>A	ENSP00000268154:p.Arg592Gln	Somatic	0	41	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R592Q	ENST00000268154.4	37	c.1775	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040424	0.93630	.	.	ENSG00000140548	ENST00000268154	T	0.07444	3.19	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.213498	0.29145	N	0.013013	T	0.19087	0.0458	L	0.38953	1.18	0.43230	D	0.995123	D	0.89917	1.0	D	0.70227	0.968	T	0.02860	-1.1101	10	0.21540	T	0.41	-39.5858	17.485	0.87684	0.0:0.0:1.0:0.0	.	592	Q8N1W2	ZN710_HUMAN	Q	592	ENSP00000268154:R592Q	ENSP00000268154:R592Q	R	+	2	0	ZNF710	88418476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.704000	0.92352	0.650000	0.86243	CGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	protein_coding	OTTHUMT00000313423.1	G	NM_198526	-		90617472	1	no_errors	ENST00000268154	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90617472	G	A	90617472	3	1	73	1	0	0	0	0	1	0	0	0	18122	1116	39	1	1785	1	ZNF710	15	90617472	Missense_Mutation	SNP	G	TCGA-DX-A6BG-01A-11D-A307-09		90617472	11913920	12	3969											
NF1	4763	genome.wustl.edu	37	chr17	29560033	29560033	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acattaggcttaggttaccaCaaggatctccagacaagagc	9	10	1	2			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr17:29560033C>G	ENST00000358273.4	+	27	3893	c.3510C>G	c.(3508-3510)caC>caG	p.H1170Q	NF1_ENST00000356175.3_Missense_Mutation_p.H1170Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1170					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)	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)		TAGGTTACCACAAGGATCTCC	0.393			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)						ENSG00000196712						81	75	77					17																	29560033		2203	4300	6503	NF1	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.3510C>G	17.37:g.29560033C>G	ENSP00000351015:p.His1170Gln	Somatic	0	82	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	110	9.84	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.H1170Q	ENST00000358273.4	37	c.3510	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260572	0.59431	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.64803	-0.12;3.06;2.75	5.73	4.75	0.60458	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.65815	0.992;0.995;0.96;0.985	P;P;D;P	0.69142	0.849;0.894;0.962;0.84	T	0.80574	-0.1322	10	0.72032	D	0.01	.	11.8095	0.52175	0.0:0.8463:0.0:0.1537	.	1170;220;1170;1170	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	Q	1170;1170;836	ENSP00000351015:H1170Q;ENSP00000348498:H1170Q;ENSP00000389907:H836Q	ENSP00000348498:H1170Q	H	+	3	2	NF1	26584159	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.440000	0.35024	1.397000	0.46682	0.555000	0.69702	CAC	-	superfamily_ARM-type_fold		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	-		29560033	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29560033	C	G	29560033	3	3	73	1	0	0	0	0	1	0	0	0	10358	477	17	4	3677	4	NF1	17	29560033	Missense_Mutation	SNP	C	TCGA-DX-A6BG-01A-11D-A307-09		29560033	51635177	13	3970											
HNF1B	6928	genome.wustl.edu	37	chr17	36104586	36104586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctcggtgttgagcGcctgcagctccttgaggatg	13	14	0	2			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr17:36104586G>A	ENST00000225893.4	-	1	651	c.290C>T	c.(289-291)gCg>gTg	p.A97V	RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000560016.1_Missense_Mutation_p.A97V|HNF1B_ENST00000561193.1_Missense_Mutation_p.A97V|HNF1B_ENST00000427275.2_Missense_Mutation_p.A97V	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	97					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|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)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGTGTTGAGCGCCTGCAGCTC	0.692																																					Colon(71;102 1179 9001 27917 43397)												0								ENSG00000108753						45	50	48					17																	36104586		2203	4299	6502	HNF1B	SO:0001583	missense	0			-	HGNC	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.290C>T	17.37:g.36104586G>A	ENSP00000225893:p.Ala97Val	Somatic	0	156	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	167	10.22	B4DKM3|E0YMJ9	Missense_Mutation	SNP							pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A97V	ENST00000225893.4	37	c.290	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147887	0.57151	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593	D;D	0.98550	-4.99;-4.99	5.13	4.14	0.48551	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.169055	0.53938	D	0.000058	D	0.95316	0.8480	L	0.29908	0.895	0.40532	D	0.980941	B;B	0.30179	0.126;0.271	B;B	0.25140	0.036;0.058	D	0.94385	0.7608	10	0.56958	D	0.05	8.6033	14.7146	0.69257	0.0:0.1457:0.8543:0.0	.	97;97	E0YMJ6;P35680	.;HNF1B_HUMAN	V	97	ENSP00000225893:A97V;ENSP00000412212:A97V	ENSP00000225893:A97V	A	-	2	0	HNF1B	33178699	0.088000	0.21588	0.998000	0.56505	0.992000	0.81027	1.959000	0.40412	1.350000	0.45770	0.561000	0.74099	GCG	-	pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom		0.692	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	protein_coding	OTTHUMT00000256807.3	G	NM_000458	-		36104586	-1	no_errors	ENST00000225893	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36104586	G	A	36104586	3	1	73	1	0	0	0	0	1	0	0	0	7254	1087	38	1	1419	1	HNF1B	17	36104586	Missense_Mutation	SNP	G	TCGA-DX-A6BG-01A-11D-A307-09	6544553	36104586	45090624	14	3971											
ZNF521	25925	genome.wustl.edu	37	chr18	22804482	22804482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtgtcttcagtccccCcaccttgcctttcccctcaa	6	19	3	0			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chr18:22804482C>G	ENST00000361524.3	-	4	3548	c.3400G>C	c.(3400-3402)Ggg>Cgg	p.G1134R	ZNF521_ENST00000538137.2_Missense_Mutation_p.G1134R|ZNF521_ENST00000584787.1_Missense_Mutation_p.G914R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1134					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCAGTCCCCCCACCTTGCCT	0.547			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						146	126	133					18																	22804482		2203	4300	6503	ZNF521	SO:0001583	missense	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3400G>C	18.37:g.22804482C>G	ENSP00000354794:p.Gly1134Arg	Somatic	0	115	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	123	12.14	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1134R	ENST00000361524.3	37	c.3400	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.023022	0.07634	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08546	3.09;3.08	5.98	5.11	0.69529	.	0.469690	0.23836	N	0.044088	T	0.06096	0.0158	N	0.08118	0	0.40382	D	0.979459	B	0.32101	0.356	B	0.34652	0.187	T	0.43491	-0.9388	10	0.62326	D	0.03	-19.3037	13.5646	0.61810	0.0:0.9286:0.0:0.0714	.	1134	Q96K83	ZN521_HUMAN	R	1134;1168;1134	ENSP00000354794:G1134R;ENSP00000382352:G1134R	ENSP00000354794:G1134R	G	-	1	0	ZNF521	21058480	0.893000	0.30496	0.599000	0.28851	0.097000	0.18754	2.268000	0.43338	1.544000	0.49359	0.650000	0.86243	GGG	-	NULL		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	C	NM_015461	-		22804482	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	SNP	0.992	G	G	22804482	C	G	22804482	3	3	73	1	0	0	0	0	1	0	0	0	17972	623	22	4	555	4	ZNF521	18	22804482	Missense_Mutation	SNP	C	TCGA-DX-A6BG-01A-11D-A307-09		22804482	55272766	15	3972											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29301312	29301312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacattgctacaggacagtGgtctctacgcctgtgtcatc	9	12	2	0			TCGA-DX-A6BG-01A-11D-A307-09	TCGA-DX-A6BG-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fecf5edc-7a04-4f9d-a478-20c262780124	e882eeb1-035e-495c-b29b-5fcef3b36cfc	g.chrX:29301312G>A	ENST00000378993.1	+	3	1013	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G114S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	114	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACAGGACAGTGGTCTCTACGC	0.448																																																	0								ENSG00000169306						95	82	86					X																	29301312		2202	4300	6502	IL1RAPL1	SO:0001583	missense	0			-	HGNC	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.340G>A	X.37:g.29301312G>A	ENSP00000368278:p.Gly114Ser	Somatic	0	52	0		0.556767944237802				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A0AVG4|Q9UJ53	Missense_Mutation	SNP							pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.G114S	ENST00000378993.1	37	c.340	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798724	0.90538	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	D;D	0.87103	-2.21;-2.21	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94689	0.8287	M	0.88704	2.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95357	0.8452	10	0.87932	D	0	.	17.9294	0.88992	0.0:0.0:1.0:0.0	.	114	Q9NZN1	IRPL1_HUMAN	S	114	ENSP00000368278:G114S;ENSP00000305200:G114S	ENSP00000305200:G114S	G	+	1	0	IL1RAPL1	29211233	1.000000	0.71417	0.985000	0.45067	0.823000	0.46562	9.476000	0.97823	2.454000	0.82982	0.600000	0.82982	GGT	-	smart_Ig_sub,pfscan_Ig-like_dom		0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	protein_coding	OTTHUMT00000056155.1	G	NM_014271	-		29301312	1	no_errors	ENST00000302196	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29301312	G	A	29301312	3	1	73	1	0	0	0	0	1	0	0	0	7663	1348	47	2	346	2	IL1RAPL1	23	29301312	Missense_Mutation	SNP	G	TCGA-DX-A6BG-01A-11D-A307-09		29301312	125969248	16	3973											
FAM163A	148753	genome.wustl.edu	37	chr1	179783087	179783087	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagccagccctgtggGgtggccgcgagccactgcac	14	17	0	0			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr1:179783087G>T	ENST00000341785.4	+	5	663	c.267G>T	c.(265-267)ggG>ggT	p.G89G	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	89						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGCCCTGTGGGGTGGCCGCGA	0.667																																																	0								ENSG00000143340						33	31	32					1																	179783087		2203	4300	6503	FAM163A	SO:0001819	synonymous_variant	0			-	HGNC	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.267G>T	1.37:g.179783087G>T		Somatic	0	78	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	34	43.33	A8K8R7	Silent	SNP							NULL	p.G89	ENST00000341785.4	37	c.267	CCDS1333.1	1																																																																																			-	NULL		0.667	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	protein_coding	OTTHUMT00000085300.1	G	NM_173509	-		179783087	1	no_errors	ENST00000341785	ensembl	human	known	74_37	silent	SNP	0.638	T	T	179783087	G	T	179783087	2	4	74	1	0	0	0	0	0	0	0	1	5478	1219	43	3		3	FAM163A	1	179783087	Silent	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09		179783087	69467534	1	3974											
MTTP	4547	genome.wustl.edu	37	chr4	100521804	100521804	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actttttggatttcaaaagtGacagcagcattatcctccag	7	9	1	1			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr4:100521804G>A	ENST00000265517.5	+	9	1353	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	MTTP_ENST00000457717.1_Missense_Mutation_p.D384N|MTTP_ENST00000511045.1_Missense_Mutation_p.D411N|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	384	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.		D -> A (in dbSNP:rs17029215). {ECO:0000269|PubMed:8939939}.		cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTTCAAAAGTGACAGCAGCAT	0.433																																																	0								ENSG00000138823						109	108	108					4																	100521804		2203	4300	6503	MTTP	SO:0001583	missense	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1150G>A	4.37:g.100521804G>A	ENSP00000265517:p.Asp384Asn	Somatic	0	134	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	73	38.66	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP							pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D384N	ENST00000265517.5	37	c.1150	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772568	0.31411	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.39229	1.09;1.09;1.09	4.86	3.14	0.36123	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.664814	0.16092	N	0.230019	T	0.33789	0.0875	L	0.57536	1.79	0.09310	N	1	P;B	0.35226	0.491;0.351	B;B	0.32022	0.139;0.061	T	0.14282	-1.0478	10	0.15066	T	0.55	-13.1503	9.1662	0.37052	0.235:0.0:0.765:0.0	.	411;384	E9PBP6;P55157	.;MTP_HUMAN	N	411;384;384;384	ENSP00000427679:D411N;ENSP00000400821:D384N;ENSP00000265517:D384N	ENSP00000265517:D384N	D	+	1	0	MTTP	100740827	0.814000	0.29104	0.528000	0.27938	0.896000	0.52359	2.506000	0.45433	0.461000	0.27071	0.655000	0.94253	GAC	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	G		-		100521804	1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	SNP	0.190	A	A	100521804	G	A	100521804	3	1	74	1	0	0	0	0	1	0	0	0	9966	1290	45	2	1184	2	MTTP	4	100521804	Missense_Mutation	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09		100521804	90632472	2	3975											
NOTCH4	4855	genome.wustl.edu	37	chr6	32188317	32188317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagccactcacacacaCgcagtgaaagctaccagcag	8	17	1	1	rs144492578	byFrequency	TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr6:32188317C>T	ENST00000375023.3	-	6	1162	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	342	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCACACACACGCAGTGAAAG	0.612													C|||	2	0.000399361	0.0015	0	5008	,	,		18417	0		0	False		,,,				2504	0																0								ENSG00000204301	C	MET/VAL	3,3019		0,3,1508	102	100	101		1024	4.9	1	6	dbSNP_134	101	0,5418		0,0,2709	yes	missense	NOTCH4	NM_004557.3	21	0,3,4217	TT,TC,CC		0.0,0.0993,0.0355	probably-damaging	342/2004	32188317	3,8437	1511	2709	4220	NOTCH4	SO:0001583	missense	0			-	HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1024G>A	6.37:g.32188317C>T	ENSP00000364163:p.Val342Met	Somatic	0	111	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	41	50.60	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.V342M	ENST00000375023.3	37	c.1024	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154163	0.78114	9.93E-4	0.0	ENSG00000204301	ENST00000375023	D	0.91894	-2.93	4.9	4.9	0.64082	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39687	N	0.001289	D	0.93779	0.8011	L	0.55103	1.725	0.80722	D	1	D;P	0.89917	1.0;0.915	D;B	0.97110	1.0;0.378	D	0.93414	0.6771	10	0.48119	T	0.1	.	15.6115	0.76721	0.0:1.0:0.0:0.0	.	342;342	Q6P3V5;Q99466	.;NOTC4_HUMAN	M	342	ENSP00000364163:V342M	ENSP00000364163:V342M	V	-	1	0	NOTCH4	32296295	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.366000	0.66122	2.539000	0.85634	0.491000	0.48974	GTG	-	pirsf_Notch,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	C		rs144492578		32188317	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32188317	C	T	32188317	3	4	74	1	0	0	0	0	1	0	0	0	10553	536	19	1	5087	1	NOTCH4	6	32188317	Missense_Mutation	SNP	C	TCGA-DX-A6BH-01A-12D-A307-09		32188317	138926750	3	3976											
UPK3B	80761	genome.wustl.edu	37	chr7	76144537	76144538	+	Frame_Shift_Ins	INS	-	-	GGGGCTGGGGGAGATGG													ctagcctggcctctttgcatINSggggctgggggagatggggc							TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr7:76144537_76144538insGGGGCTGGGGGAGATGG	ENST00000257632.5	+	4	1060_1061	c.932_933insGGGGCTGGGGGAGATGG	c.(931-936)atggggfs	p.MG311fs	UPK3B_ENST00000419923.2_Frame_Shift_Ins_p.MG311fs|UPK3B_ENST00000394849.1_Frame_Shift_Ins_p.MG256fs|UPK3B_ENST00000334348.3_3'UTR|UPK3B_ENST00000448265.3_Frame_Shift_Ins_p.MG311fs|UPK3B_ENST00000443097.2_3'UTR			Q9BT76	UPK3B_HUMAN	uroplakin 3B	311					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCTCTTTGCATGGGGCTGGGGG	0.693																																																	0								ENSG00000243566																																			UPK3B	SO:0001589	frameshift_variant	0				HGNC	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.933_949dupGGGGCTGGGGGAGATGG	7.37:g.76144537_76144538insGGGGCTGGGGGAGATGG	ENSP00000257632:p.Met311fs	Somatic					0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Frame_Shift_Ins	INS							NULL	p.G315fs	ENST00000257632.5	37	c.932_933	CCDS5588.1	7																																																																																			-	NULL		0.693	UPK3B-002	KNOWN	basic|CCDS	protein_coding	UPK3B	protein_coding	OTTHUMT00000313978.2	-	NM_030570			76144538	1	no_errors	ENST00000257632	ensembl	human	known	74_37	frame_shift_ins	INS	0.004:0.021	GGGGCTGGGGGAGATGG	GGGGCTGGGGGAGATGG	76144538	-	GGGGCTGGGGGAGATGG	76144537	7	5	74	1	0	1	1	0	0	0	0	0	17018	1464	51	0	1030	0	UPK3B	7	76144537	Frame_Shift_Ins	INS	-	TCGA-DX-A6BH-01A-12D-A307-09		76144537	82994126	4	3977											
DEFB104A	503618	genome.wustl.edu	37	chr8	7332563	7332563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatagagtagaagagaaaTggctaatagcagcacaagtc	11	5	0	4	rs200740890		TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr8:7332563T>C	ENST00000316169.2	-	1	41	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_001040702.1	NP_001035792.1	Q8WTQ1	D104A_HUMAN	defensin, beta 104B	10			I -> V (in dbSNP:rs2680507). {ECO:0000269|PubMed:11481241, ECO:0000269|PubMed:15489334}.		defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AGAAGAGAAATGGCTAATAGC	0.502																																																	0								ENSG00000177023						5	4	4					8																	7332563		1628	2812	4440	DEFB104B	SO:0001583	missense	0			-	HGNC		CCDS34812.1	8p23.1	2011-03-29			ENSG00000177023	ENSG00000177023		"Defensins, beta"	26165	protein-coding gene	gene with protein product							Standard	NM_001040702		Approved		uc003wrn.3	Q8WTQ1	OTTHUMG00000149986	ENST00000316169.2:c.28A>G	8.37:g.7332563T>C	ENSP00000322191:p.Ile10Val	Somatic	0	27	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q496I2|Q496I3|Q496I4	Missense_Mutation	SNP							NULL	p.I10V	ENST00000316169.2	37	c.28	CCDS34812.1	8	.	.	.	.	.	.	.	.	.	.	T	2.033	-0.421928	0.04734	.	.	ENSG00000177023	ENST00000316169	T	0.14144	2.53	2.6	-1.3	0.09259	.	.	.	.	.	T	0.07683	0.0193	.	.	.	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.32322	-0.9911	7	0.32370	T	0.25	.	5.6826	0.17784	0.0:0.4706:0.0:0.5294	.	10	Q8WTQ1	D104A_HUMAN	V	10	ENSP00000322191:I10V	ENSP00000322191:I10V	I	-	1	0	DEFB104B	7319973	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	-0.670000	0.05256	-0.133000	0.11537	0.369000	0.22263	ATT	-	NULL		0.502	DEFB104B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB104B	protein_coding	OTTHUMT00000315230.1	T		rs200740890		7332563	-1	no_errors	ENST00000316169	ensembl	human	known	74_37	missense	SNP	0.005	C	C	7332563	T	C	7332563	3	2	74	1	0	0	0	0	1	0	0	0	4397	1464	51	5	198	5	DEFB104A	8	7332563	Missense_Mutation	SNP	T	TCGA-DX-A6BH-01A-12D-A307-09		7332563	139031459	5	3978											
RBMXL2	27288	genome.wustl.edu	37	chr11	7110476	7110476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgctcctgatgaaagAccgagaaaccaacaagtcga	11	10	0	4			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr11:7110476A>G	ENST00000306904.5	+	1	312	c.125A>G	c.(124-126)gAc>gGc	p.D42G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	42	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGATGAAAGACCGAGAAACC	0.582																																																	0								ENSG00000170748						44	43	43					11																	7110476		2201	4296	6497	RBMXL2	SO:0001583	missense	0			-	HGNC	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.125A>G	11.37:g.7110476A>G	ENSP00000304139:p.Asp42Gly	Somatic	0	72	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP							pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.D42G	ENST00000306904.5	37	c.125	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	A	18.65	3.668814	0.67814	.	.	ENSG00000170748	ENST00000306904	D	0.91792	-2.91	2.39	2.39	0.29439	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.94899	0.8351	M	0.81942	2.565	0.58432	D	0.999999	D	0.64830	0.994	D	0.77004	0.989	D	0.94111	0.7371	10	0.66056	D	0.02	.	8.6459	0.34005	1.0:0.0:0.0:0.0	.	42	O75526	HNRGT_HUMAN	G	42	ENSP00000304139:D42G	ENSP00000304139:D42G	D	+	2	0	RBMXL2	7067052	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.685000	0.91246	1.330000	0.45394	0.374000	0.22700	GAC	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.582	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	protein_coding	OTTHUMT00000384552.1	A	NM_014469	-		7110476	1	no_errors	ENST00000306904	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7110476	A	G	7110476	3	3	74	1	0	0	0	0	1	0	0	0	13162	275	10	5	127	5	RBMXL2	11	7110476	Missense_Mutation	SNP	A	TCGA-DX-A6BH-01A-12D-A307-09		7110476	127896040	6	3979											
SLC17A6	57084	genome.wustl.edu	37	chr11	22363276	22363276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgggcgtggccattgtgGacatggtcaacaacagcacc	12	12	1	0			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr11:22363276G>A	ENST00000263160.3	+	2	726	c.289G>A	c.(289-291)Gac>Aac	p.D97N		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	97					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGCCATTGTGGACATGGTCAA	0.647																																																	0								ENSG00000091664						76	62	67					11																	22363276		2203	4300	6503	SLC17A6	SO:0001583	missense	0			-	HGNC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.289G>A	11.37:g.22363276G>A	ENSP00000263160:p.Asp97Asn	Somatic	0	212	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	160	10.11	A6NKS2	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D97N	ENST00000263160.3	37	c.289	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618470	0.66787	.	.	ENSG00000091664	ENST00000263160	T	0.57752	0.38	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.044121	0.85682	D	0.000000	T	0.61689	0.2367	M	0.76170	2.325	0.47245	D	0.999367	B	0.20780	0.048	B	0.33121	0.158	T	0.56697	-0.7936	10	0.34782	T	0.22	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	97	Q9P2U8	VGLU2_HUMAN	N	97	ENSP00000263160:D97N	ENSP00000263160:D97N	D	+	1	0	SLC17A6	22319852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.298000	0.51818	2.781000	0.95711	0.650000	0.86243	GAC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.647	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	protein_coding	OTTHUMT00000387671.1	G	NM_020346	-		22363276	1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22363276	G	A	22363276	3	1	74	1	0	0	0	0	1	0	0	0	14429	1174	41	2	295	2	SLC17A6	11	22363276	Missense_Mutation	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09	15252800	22363276	112643240	7	3980											
OR8B8	26493	genome.wustl.edu	37	chr11	124310339	124310339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagagcataggaaatgaAgatggtgactgtgggcacac	14	5	0	4			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr11:124310339A>G	ENST00000328064.2	-	1	715	c.643T>C	c.(643-645)Ttc>Ctc	p.F215L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	215					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		TAGGAAATGAAGATGGTGACT	0.493																																																	0								ENSG00000197125						188	161	170					11																	124310339		2201	4299	6500	OR8B8	SO:0001583	missense	0			-	HGNC	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"GPCR / Class A : Olfactory receptors"	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.643T>C	11.37:g.124310339A>G	ENSP00000330280:p.Phe215Leu	Somatic	0	88	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A1L446|Q96RC8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F215L	ENST00000328064.2	37	c.643	CCDS8446.1	11	.	.	.	.	.	.	.	.	.	.	A	7.878	0.729657	0.15507	.	.	ENSG00000197125	ENST00000328064	T	0.00017	9.09	3.67	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.128358	0.35495	N	0.003169	T	0.00039	0.0001	N	0.01352	-0.895	0.37093	D	0.899541	B	0.26512	0.151	B	0.30782	0.12	T	0.14227	-1.0480	10	0.05525	T	0.97	.	3.2323	0.06752	0.5588:0.0:0.1038:0.3374	.	215	Q15620	OR8B8_HUMAN	L	215	ENSP00000330280:F215L	ENSP00000330280:F215L	F	-	1	0	OR8B8	123815549	0.000000	0.05858	1.000000	0.80357	0.748000	0.42578	-0.228000	0.09114	1.896000	0.54893	0.455000	0.32223	TTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	protein_coding	OTTHUMT00000387056.1	A	NM_012378	-		124310339	-1	no_errors	ENST00000328064	ensembl	human	known	74_37	missense	SNP	0.998	G	G	124310339	A	G	124310339	3	3	74	1	0	0	0	0	1	0	0	0	11232	72	3	5	295	5	OR8B8	11	124310339	Missense_Mutation	SNP	A	TCGA-DX-A6BH-01A-12D-A307-09	101947063	124310339	10696177	8	3981											
DTX3	196403	genome.wustl.edu	37	chr12	58002321	58002321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgaacacccaaacccaGgagttcggtatcctggcacc	10	14	0	1			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr12:58002321G>A	ENST00000548198.1	+	4	2273	c.769G>A	c.(769-771)Gga>Aga	p.G257R	DTX3_ENST00000337737.3_Missense_Mutation_p.G257R|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000551632.1_Missense_Mutation_p.G260R|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000548804.1_Missense_Mutation_p.G257R			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	257					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCCAAACCCAGGAGTTCGGTA	0.617																																																	0								ENSG00000178498						62	65	64					12																	58002321		2077	4212	6289	DTX3	SO:0001583	missense	0			-	HGNC	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.769G>A	12.37:g.58002321G>A	ENSP00000447873:p.Gly257Arg	Somatic	0	80	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	321	386	45.40	Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G260R	ENST00000548198.1	37	c.778	CCDS41800.1	12	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694607	0.88830	.	.	ENSG00000178498	ENST00000548804;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000550300	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71652	-0.4528	10	0.87932	D	0	-3.6819	15.6095	0.76704	0.0:0.0:1.0:0.0	.	257	Q8N9I9	DTX3_HUMAN	R	257;257;257;260;45	ENSP00000449294:G257R;ENSP00000338050:G257R;ENSP00000447873:G257R;ENSP00000448696:G260R;ENSP00000446996:G45R	ENSP00000338050:G257R	G	+	1	0	DTX3	56288588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.504000	0.97986	2.044000	0.60594	0.585000	0.79938	GGA	-	NULL		0.617	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	protein_coding	OTTHUMT00000407848.1	G	NM_178502	-		58002321	1	no_errors	ENST00000551632	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58002321	G	A	58002321	3	1	74	1	0	0	0	0	1	0	0	0	4797	1001	35	2	779	2	DTX3	12	58002321	Missense_Mutation	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09		58002321	75849574	9	3982											
C14orf169	399671	genome.wustl.edu	37	chr14	73957841	73957841	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttgaggtccaggaagatacGaaagcagctgcgaagtgttg	14	7	0	2			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr14:73957841G>T	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											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)		AGGAAGATACGAAAGCAGCTG	0.672																																																	0								ENSG00000255242						43	48	46					14																	73957841		1948	4146	6094	C14orf169	SO:0001627	intron_variant	0			-	HGNC	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.2844+1928C>A	14.37:g.73957841G>T		Somatic	0	63	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	B7Z7V9|E9KL41	RNA	SNP							-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			-	-		0.672	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	protein_coding	OTTHUMT00000414422.2	G	NM_203309	-		73957841	1	no_errors	ENST00000531973	ensembl	human	known	74_37	rna	SNP	0.997	T	T	73957841	G	T	73957841	1	4	74	0	1	0	0	0	0	0	0	0	1760	1058	37	3		3	C14orf169	14	73957841	Intron	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09		73957841	33391699	10	3983											
RTL1	388015	genome.wustl.edu	37	chr14	101347411	101347411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgacggtaacgttgcaggtCgtcttgcagggcttctcgca	13	11	2	1			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr14:101347411C>T	ENST00000534062.1	-	1	3773	c.3715G>A	c.(3715-3717)Gac>Aac	p.D1239N	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1239					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGTTGCAGGTCGTCTTGCAGG	0.637																																																	0								ENSG00000254656						18	19	19					14																	101347411		1568	3580	5148	RTL1	SO:0001583	missense	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3715G>A	14.37:g.101347411C>T	ENSP00000435342:p.Asp1239Asn	Somatic	0	136	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	83	33.86	E9PKS8	Missense_Mutation	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.D1239N	ENST00000534062.1	37	c.3715	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651895	0.88056	.	.	ENSG00000254656	ENST00000534062	T	0.46451	0.87	3.48	3.48	0.39840	.	0.000000	0.36555	N	0.002533	T	0.46833	0.1413	L	0.29908	0.895	0.26988	N	0.965217	D	0.89917	1.0	D	0.67103	0.949	T	0.21895	-1.0232	10	0.42905	T	0.14	.	10.771	0.46323	0.0:1.0:0.0:0.0	.	1239	E9PKS8	.	N	1239	ENSP00000435342:D1239N	ENSP00000435342:D1239N	D	-	1	0	RTL1	100417164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.960000	0.29253	2.239000	0.73571	0.655000	0.94253	GAC	-	NULL		0.637	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	C	NM_001134888	-		101347411	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101347411	C	T	101347411	3	4	74	1	0	0	0	0	1	0	0	0	13732	884	31	1	365	1	RTL1	14	101347411	Missense_Mutation	SNP	C	TCGA-DX-A6BH-01A-12D-A307-09	27389570	101347411	6002129	11	3984											
GJD2	57369	genome.wustl.edu	37	chr15	35044752	35044752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttggcaggtccttgttaCgaatctcatagattgacttt	8	10	1	2			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr15:35044752C>T	ENST00000290374.4	-	2	1369	c.893G>A	c.(892-894)cGt>cAt	p.R298H	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	298					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTCCTTGTTACGAATCTCATA	0.537																																																	0								ENSG00000159248						87	73	77					15																	35044752		2201	4298	6499	GJD2	SO:0001583	missense	0			-	HGNC	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.893G>A	15.37:g.35044752C>T	ENSP00000290374:p.Arg298His	Somatic	0	106	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	Q2M241|Q9P2R0	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.R298H	ENST00000290374.4	37	c.893	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217329	0.79352	.	.	ENSG00000159248	ENST00000290374	D	0.98221	-4.8	5.86	5.86	0.93980	.	1.877190	0.02285	N	0.069770	D	0.98416	0.9473	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	D	0.90709	0.4626	10	0.36615	T	0.2	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	298	Q9UKL4	CXD2_HUMAN	H	298	ENSP00000290374:R298H	ENSP00000290374:R298H	R	-	2	0	GJD2	32832044	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGT	-	NULL		0.537	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	protein_coding	OTTHUMT00000251875.2	C		-		35044752	-1	no_errors	ENST00000290374	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35044752	C	T	35044752	3	4	74	1	0	0	0	0	1	0	0	0	6419	536	19	1	76	1	GJD2	15	35044752	Missense_Mutation	SNP	C	TCGA-DX-A6BH-01A-12D-A307-09		35044752	67486640	12	3985											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42110432	42110432	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatctacattgccaccagctGttctgacaagaatctctcca	6	13	3	2			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr15:42110432G>T	ENST00000456763.2	+	19	2235	c.2039G>T	c.(2038-2040)tGt>tTt	p.C680F	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.C674F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.C557F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.C513F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.C674F	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	680										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)		GCCACCAGCTGTTCTGACAAG	0.557																																																	0								ENSG00000137802						132	111	119					15																	42110432		2203	4300	6503	MAPKBP1	SO:0001583	missense	0			-	HGNC	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.2039G>T	15.37:g.42110432G>T	ENSP00000393099:p.Cys680Phe	Somatic	0	46	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C680F	ENST00000456763.2	37	c.2039	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	g	22.1	4.241916	0.79912	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.65732	1.59;1.59;1.04;-0.17;1.04	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	0.81927	0.4926	M	0.83603	2.65	0.80722	D	1	D;P;D;D;B	0.89917	0.999;0.923;1.0;0.989;0.39	D;P;D;D;B	0.91635	0.987;0.903;0.999;0.92;0.434	D	0.84277	0.0492	10	0.87932	D	0	-9.5229	19.3937	0.94596	0.0:0.0:1.0:0.0	.	513;557;674;680;674	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	F	674;557;513;680;674	ENSP00000397570:C674F;ENSP00000221214:C557F;ENSP00000260357:C513F;ENSP00000393099:C680F;ENSP00000426154:C674F	ENSP00000221214:C557F	C	+	2	0	MAPKBP1	39897724	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.866000	0.99616	2.574000	0.86865	0.561000	0.74099	TGT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	protein_coding	OTTHUMT00000359745.1	G	NM_014994	-		42110432	1	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42110432	G	T	42110432	3	4	74	1	0	0	0	0	1	0	0	0	9294	1377	48	3	2109	3	MAPKBP1	15	42110432	Missense_Mutation	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09	7065680	42110432	60420960	13	3986											
RABEP1	9135	genome.wustl.edu	37	chr17	5253801	5253801	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagttaaaacatacgtgGcagaaggccaatgaccagtt	9	9	0	2			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chr17:5253801G>A	ENST00000546142.2	+	7	1027	c.840G>A	c.(838-840)tgG>tgA	p.W280*	RABEP1_ENST00000341923.6_Nonsense_Mutation_p.W280*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.W280*|RABEP1_ENST00000262477.6_Nonsense_Mutation_p.W280*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.W237*			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	280					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AACATACGTGGCAGAAGGCCA	0.448																																																	0								ENSG00000029725						89	87	88					17																	5253801		1945	4145	6090	RABEP1	SO:0001587	stop_gained	0			-	HGNC	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.840G>A	17.37:g.5253801G>A	ENSP00000437701:p.Trp280*	Somatic	0	74	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	B2RAG7|O95369|Q8IVX3	Nonsense_Mutation	SNP							pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.W280*	ENST00000546142.2	37	c.840	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.378856	0.98248	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-7.8874	19.2026	0.93717	0.0:0.0:1.0:0.0	.	.	.	.	X	280;280;273;280;280;237	.	ENSP00000262477:W280X	W	+	3	0	RABEP1	5194525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.266000	0.95659	2.850000	0.98022	0.650000	0.86243	TGG	-	NULL		0.448	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	protein_coding	OTTHUMT00000439349.1	G	NM_004703	-		5253801	1	no_errors	ENST00000262477	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	5253801	G	A	5253801	4	1	74	1	0	0	0	0	0	1	0	0	12969	1212	42	2	866	2	RABEP1	17	5253801	Nonsense_Mutation	SNP	G	TCGA-DX-A6BH-01A-12D-A307-09		5253801	75941409	14	3987											
FLNA	2316	genome.wustl.edu	37	chrX	153591107	153591107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttggctactccggggcCgtatactttgaccttgttgg	12	10	1	1			TCGA-DX-A6BH-01A-12D-A307-09	TCGA-DX-A6BH-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98f225b0-b093-4073-98ee-cbd5999e7912	2c5832b3-1c6f-4176-8191-6d4b43a5391e	g.chrX:153591107C>T	ENST00000369850.3	-	16	2562	c.2326G>A	c.(2326-2328)Ggc>Agc	p.G776S	FLNA_ENST00000344736.4_Missense_Mutation_p.G776S|FLNA_ENST00000360319.4_Missense_Mutation_p.G776S|FLNA_ENST00000422373.1_Missense_Mutation_p.G776S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	776					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					ACTCCGGGGCCGTATACTTTG	0.637																																																	0								ENSG00000196924						25	28	27					X																	153591107		2029	4152	6181	FLNA	SO:0001583	missense	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2326G>A	X.37:g.153591107C>T	ENSP00000358866:p.Gly776Ser	Somatic	0	182	0		0.549717187685235				WXS	Illumina HiSeq 2500	Phase_IV	tier1	98	43	69.50	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G776S	ENST00000369850.3	37	c.2326	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352607	0.82132	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97346	0.9132	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98487	1.0608	10	0.87932	D	0	.	18.3446	0.90317	0.0:1.0:0.0:0.0	.	776;776	P21333-2;P21333	.;FLNA_HUMAN	S	776;749;776;776;776	ENSP00000353467:G776S;ENSP00000416926:G776S;ENSP00000358866:G776S;ENSP00000358863:G776S	ENSP00000358863:G776S	G	-	1	0	FLNA	153244301	1.000000	0.71417	0.846000	0.33378	0.405000	0.30901	7.818000	0.86416	2.272000	0.75746	0.529000	0.55759	GGC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	C		-		153591107	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153591107	C	T	153591107	3	4	74	1	0	0	0	0	1	0	0	0	5935	652	23	1	5749	1	FLNA	23	153591107	Missense_Mutation	SNP	C	TCGA-DX-A6BH-01A-12D-A307-09		153591107	1679453	15	3988											
RAB11FIP5	26056	genome.wustl.edu	37	chr2	73316055	73316055	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtgagcgggtgaggaGttcggcgccaggtccctggt	19	9	0	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr2:73316055G>C	ENST00000258098.6	-	2	1060	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	274					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CGGGTGAGGAGTTCGGCGCCA	0.692																																																	0								ENSG00000135631						25	25	25					2																	73316055		2203	4300	6503	RAB11FIP5	SO:0001583	missense	0			-	HGNC	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.820C>G	2.37:g.73316055G>C	ENSP00000258098:p.Leu274Val	Somatic	0	107	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	105	11.76	O94939|Q9P0M1	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L274V	ENST00000258098.6	37	c.820	CCDS1923.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579835	0.46006	.	.	ENSG00000135631	ENST00000258098	T	0.47177	0.85	5.36	4.47	0.54385	.	0.089901	0.42964	D	0.000625	T	0.22475	0.0542	N	0.08118	0	0.27159	N	0.961217	P;P	0.49090	0.651;0.919	B;B	0.40256	0.057;0.324	T	0.07829	-1.0752	10	0.15952	T	0.53	-21.9048	8.2874	0.31937	0.088:0.1609:0.7511:0.0	.	274;274	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	V	274	ENSP00000258098:L274V	ENSP00000258098:L274V	L	-	1	0	RAB11FIP5	73169563	0.992000	0.36948	1.000000	0.80357	0.806000	0.45545	1.582000	0.36568	2.688000	0.91661	0.561000	0.74099	CTC	-	NULL		0.692	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	protein_coding	OTTHUMT00000251995.1	G	NM_015470	-		73316055	-1	no_errors	ENST00000258098	ensembl	human	known	74_37	missense	SNP	1.000	C	C	73316055	G	C	73316055	3	2	75	1	0	0	0	0	1	0	0	0	12905	1029	36	4	1157	4	RAB11FIP5	2	73316055	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09		73316055	169883318	1	3989											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883090	228883090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatttccttggaggatgttGtagcagttgaagaatcgggc	13	5	0	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr2:228883090G>T	ENST00000392056.3	-	7	2526	c.2480C>A	c.(2479-2481)aCa>aAa	p.T827K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T827K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	827						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)		GGAGGATGTTGTAGCAGTTGA	0.473																																																	0								ENSG00000153820						726	689	702					2																	228883090		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.2480C>A	2.37:g.228883090G>T	ENSP00000375909:p.Thr827Lys	Somatic	0	196	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	122	21.29	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.T827K	ENST00000392056.3	37	c.2480	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	0	-2.744411	0.00087	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.08282	3.11;3.11	5.97	3.53	0.40419	.	0.560547	0.21611	N	0.071791	T	0.01387	0.0045	N	0.00092	-2.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44065	-0.9352	10	0.02654	T	1	-7.7737	8.6558	0.34062	0.0:0.0679:0.1317:0.8004	.	827;827	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	827	ENSP00000375909:T827K;ENSP00000339886:T827K	ENSP00000339886:T827K	T	-	2	0	SPHKAP	228591334	0.263000	0.24083	0.003000	0.11579	0.145000	0.21501	0.883000	0.28200	0.477000	0.27464	-0.266000	0.10368	ACA	-	NULL		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	G	NM_030623	-		228883090	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.003	T	T	228883090	G	T	228883090	3	4	75	1	0	0	0	0	1	0	0	0	15055	1377	48	3	2646	3	SPHKAP	2	228883090	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	155567035	228883090	14316283	2	3990											
APEH	327	genome.wustl.edu	37	chr3	49714115	49714115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttccggttgggcatccGcttttgcaccaatcgcaggt	11	14	0	0			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr3:49714115G>A	ENST00000296456.5	+	8	1218	c.818G>A	c.(817-819)cGc>cAc	p.R273H	APEH_ENST00000438011.1_Missense_Mutation_p.R273H	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	273					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGGGCATCCGCTTTTGCACC	0.597																																																	0								ENSG00000164062						142	132	136					3																	49714115		2203	4300	6503	APEH	SO:0001583	missense	0			-	HGNC	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.818G>A	3.37:g.49714115G>A	ENSP00000296456:p.Arg273His	Somatic	0	316	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	335	8.47	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP							pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.R273H	ENST00000296456.5	37	c.818	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898592	0.72639	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T;T;T	0.42900	0.96;0.96;1.0;0.96;0.96	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.054049	0.85682	D	0.000000	T	0.52853	0.1760	L	0.58101	1.795	0.41544	D	0.988532	D;D	0.67145	0.996;0.996	P;P	0.55871	0.786;0.786	T	0.51671	-0.8676	10	0.45353	T	0.12	-34.4157	12.9303	0.58282	0.0738:0.0:0.9262:0.0	.	273;273	C9JIF9;P13798	.;ACPH_HUMAN	H	273;172;198;273;224	ENSP00000296456:R273H;ENSP00000414369:R172H;ENSP00000402365:R198H;ENSP00000415862:R273H;ENSP00000410366:R224H	ENSP00000296456:R273H	R	+	2	0	APEH	49689119	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.754000	0.68743	2.665000	0.90641	0.650000	0.86243	CGC	-	NULL		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	protein_coding	OTTHUMT00000346415.2	G		-		49714115	1	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49714115	G	A	49714115	3	1	75	1	0	0	0	0	1	0	0	0	768	1087	38	1	848	1	APEH	3	49714115	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09		49714115	148308315	3	3991											
MCF2L2	23101	genome.wustl.edu	37	chr3	182937682	182937682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctgggtctatctccaTatcttcaggagactcgaaat	7	11	5	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr3:182937682T>A	ENST00000328913.3	-	21	2629	c.2332A>T	c.(2332-2334)Atg>Ttg	p.M778L	MCF2L2_ENST00000473233.1_Missense_Mutation_p.M778L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	778	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTATCTCCATATCTTCAGGA	0.358																																																	0								ENSG00000053524						87	87	87					3																	182937682		2203	4300	6503	MCF2L2	SO:0001583	missense	0			-	HGNC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2332A>T	3.37:g.182937682T>A	ENSP00000328118:p.Met778Leu	Somatic	0	55	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M778L	ENST00000328913.3	37	c.2332	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.221151	0.00286	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01584	4.75;4.76	4.05	0.465	0.16711	Dbl homology (DH) domain (4);	0.621206	0.13482	N	0.384646	T	0.00724	0.0024	N	0.03194	-0.395	0.53688	D	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.48375	-0.9041	10	0.10902	T	0.67	.	0.9716	0.01416	0.4804:0.2263:0.115:0.1783	.	778	Q86YR7	MF2L2_HUMAN	L	778	ENSP00000328118:M778L;ENSP00000420070:M778L	ENSP00000328118:M778L	M	-	1	0	MCF2L2	184420376	0.476000	0.25901	0.575000	0.28536	0.179000	0.23085	0.175000	0.16762	0.073000	0.16731	-1.273000	0.01405	ATG	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.358	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	protein_coding	OTTHUMT00000350868.1	T	NM_015078	-		182937682	-1	no_errors	ENST00000328913	ensembl	human	known	74_37	missense	SNP	0.638	A	A	182937682	T	A	182937682	3	1	75	1	0	0	0	0	1	0	0	0	9382	1406	49	5	1052	5	MCF2L2	3	182937682	Missense_Mutation	SNP	T	TCGA-DX-A6BK-01A-11D-A307-09	133223567	182937682	15084748	4	3992											
NOP14	8602	genome.wustl.edu	37	chr4	2958424	2958424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgttcctcgatcctcagcatCgctgtcactgtccacaatgt	7	15	2	0	rs149998901		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr4:2958424C>T	ENST00000314262.6	-	3	493	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NOP14_ENST00000416614.2_Missense_Mutation_p.D149N|NOP14_ENST00000398071.4_Missense_Mutation_p.D149N|NOP14_ENST00000502735.1_Missense_Mutation_p.D149N|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	149					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCTCAGCATCGCTGTCACTG	0.488																																																	0								ENSG00000087269	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	190	158	169		445	5.4	0.9	4	dbSNP_134	169	0,8600		0,0,4300	no	missense	NOP14	NM_003703.1	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	149/858	2958424	1,13005	2203	4300	6503	NOP14	SO:0001583	missense	0			-	HGNC	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.445G>A	4.37:g.2958424C>T	ENSP00000315674:p.Asp149Asn	Somatic	0	49	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	55	12.70	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP							pfam_Nop14	p.D149N	ENST00000314262.6	37	c.445	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372488	0.82573	2.27E-4	0.0	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.41	5.41	0.78517	.	0.050570	0.85682	D	0.000000	T	0.60612	0.2282	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.83275	0.874;0.996	T	0.65360	-0.6187	10	0.87932	D	0	-39.7512	18.8106	0.92056	0.0:1.0:0.0:0.0	.	149;149	E9PFK5;P78316	.;NOP14_HUMAN	N	149;149;149;149;48	ENSP00000405068:D149N;ENSP00000315674:D149N;ENSP00000427415:D149N;ENSP00000381146:D149N	ENSP00000315674:D149N	D	-	1	0	NOP14	2928222	1.000000	0.71417	0.948000	0.38648	0.164000	0.22412	7.598000	0.82745	2.535000	0.85469	0.655000	0.94253	GAT	-	pfam_Nop14		0.488	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	protein_coding	OTTHUMT00000358135.2	C	NM_003703	rs149998901		2958424	-1	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2958424	C	T	2958424	3	4	75	1	0	0	0	0	1	0	0	0	10538	884	31	1	2192	1	NOP14	4	2958424	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09		2958424	188195852	5	3993											
EGFLAM	133584	genome.wustl.edu	37	chr5	38431329	38431329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgagcttcgtgtatctcGcacagcaaagaatggaatct	10	10	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr5:38431329G>A	ENST00000354891.3	+	15	2451	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R468H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R68H|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R702H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	702	Laminin G-like 2. {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)					CGTGTATCTCGCACAGCAAAG	0.443																																					Colon(62;485 1295 3347 17454)												0								ENSG00000164318						143	122	129					5																	38431329		2203	4300	6503	EGFLAM	SO:0001583	missense	0			-	HGNC	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.2105G>A	5.37:g.38431329G>A	ENSP00000346964:p.Arg702His	Somatic	0	171	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	177	14.08	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.R702H	ENST00000354891.3	37	c.2105	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.319935	0.95682	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.78	5.78	0.91487	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	0.92886	0.7737	M	0.93328	3.405	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	0.93987	0.7263	10	0.87932	D	0	-11.9526	20.0139	0.97470	0.0:0.0:1.0:0.0	.	468;702;702	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	702;702;468;68;468	ENSP00000346964:R702H;ENSP00000313084:R702H;ENSP00000337607:R468H;ENSP00000380385:R68H	ENSP00000313084:R702H	R	+	2	0	EGFLAM	38467086	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.062000	0.93920	2.724000	0.93272	0.563000	0.77884	CGC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.443	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	G	NM_152403	-		38431329	1	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38431329	G	A	38431329	3	1	75	1	0	0	0	0	1	0	0	0	4968	1087	38	1	2177	1	EGFLAM	5	38431329	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09		38431329	142483931	6	3994											
SCAND3	114821	genome.wustl.edu	37	chr6	28543143	28543143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatattactgagttcactgaCaacctggcttgaaaattccc	6	10	1	3			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr6:28543143C>G	ENST00000452236.2	-	3	1956	c.1339G>C	c.(1339-1341)Gtc>Ctc	p.V447L	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						AGTTCACTGACAACCTGGCTT	0.433																																																	0								ENSG00000232040						59	60	59					6																	28543143		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.1339G>C	6.37:g.28543143C>G	ENSP00000395259:p.Val447Leu	Somatic	0	80	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.22		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.V447L	ENST00000452236.2	37	c.1339	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097164	0.56075	.	.	ENSG00000232040	ENST00000452236	T	0.39787	1.06	2.95	2.95	0.34219	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.38348	0.1037	L	0.39085	1.19	0.26983	N	0.965318	D	0.58970	0.984	D	0.65443	0.935	T	0.12218	-1.0556	9	0.72032	D	0.01	.	11.7317	0.51741	0.0:1.0:0.0:0.0	.	447	Q6R2W3	SCND3_HUMAN	L	447	ENSP00000395259:V447L	ENSP00000395259:V447L	V	-	1	0	SCAND3	28651122	0.001000	0.12720	0.978000	0.43139	0.977000	0.68977	0.113000	0.15499	1.668000	0.50843	0.563000	0.77884	GTC	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.433	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	C		-		28543143	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	0.999	G	G	28543143	C	G	28543143	3	3	75	1	0	0	0	0	1	0	0	0	13884	478	17	4	2646	4	SCAND3	6	28543143	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09		28543143	142571924	7	3995											
TREML4	285852	genome.wustl.edu	37	chr6	41197265	41197265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttttctctttagccccaaCcacgtctcctatgtggactc	5	15	3	0			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr6:41197265C>G	ENST00000341495.2	+	3	505	c.401C>G	c.(400-402)aCc>aGc	p.T134S	TREML4_ENST00000448827.2_Missense_Mutation_p.T134S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	134						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTAGCCCCAACCACGTCTCCT	0.567																																																	0								ENSG00000188056						170	168	169					6																	41197265		2203	4300	6503	TREML4	SO:0001583	missense	0			-	HGNC	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"Immunoglobulin superfamily / V-set domain containing"	30807	protein-coding gene	gene with protein product	"TREM like transcript 4"	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.401C>G	6.37:g.41197265C>G	ENSP00000342570:p.Thr134Ser	Somatic	0	209	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	196	21.91	B7ZL92	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T134S	ENST00000341495.2	37	c.401	CCDS34446.1	6	.	.	.	.	.	.	.	.	.	.	.	3.441	-0.114147	0.06881	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.04083	3.71;3.71	2.69	-0.277	0.12898	Immunoglobulin-like fold (1);	.	.	.	.	T	0.00496	0.0016	N	0.11560	0.145	0.09310	N	1	B	0.26483	0.15	B	0.19946	0.027	T	0.45629	-0.9248	9	0.02654	T	1	-1.0736	2.2698	0.04087	0.2451:0.4583:0.0:0.2966	.	134	Q6UXN2	TRML4_HUMAN	S	134	ENSP00000342570:T134S;ENSP00000418078:T134S	ENSP00000342570:T134S	T	+	2	0	TREML4	41305243	0.001000	0.12720	0.000000	0.03702	0.091000	0.18340	0.498000	0.22530	-0.091000	0.12440	0.467000	0.42956	ACC	-	NULL		0.567	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML4	protein_coding	OTTHUMT00000043873.2	C		-		41197265	1	no_errors	ENST00000341495	ensembl	human	known	74_37	missense	SNP	0.000	G	G	41197265	C	G	41197265	3	3	75	1	0	0	0	0	1	0	0	0	16481	507	18	4	411	4	TREML4	6	41197265	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	12654122	41197265	129917802	8	3996											
SIM1	6492	genome.wustl.edu	37	chr6	100838449	100838449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgagagccaaagcagtTtggagagacagtagggtggt	17	6	0	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr6:100838449T>G	ENST00000369208.3	-	12	2871	c.2089A>C	c.(2089-2091)Aac>Cac	p.N697H	SIM1_ENST00000262901.4_Missense_Mutation_p.N697H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	697	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAAAGCAGTTTGGAGAGACA	0.438																																																	0								ENSG00000112246						106	105	105					6																	100838449		2203	4300	6503	SIM1	SO:0001583	missense	0			-	HGNC	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2089A>C	6.37:g.100838449T>G	ENSP00000358210:p.Asn697His	Somatic	0	84	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	99	16.81	Q5TDP7	Missense_Mutation	SNP							pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.N697H	ENST00000369208.3	37	c.2089	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336978	0.41398	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03580	3.88;3.88	6.16	6.16	0.99307	Single-minded, C-terminal (1);	0.110120	0.64402	D	0.000009	T	0.02083	0.0065	N	0.22421	0.69	0.41298	D	0.987025	P	0.46277	0.875	B	0.41510	0.359	T	0.57423	-0.7814	10	0.72032	D	0.01	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	697	P81133	SIM1_HUMAN	H	697	ENSP00000358210:N697H;ENSP00000262901:N697H	ENSP00000262901:N697H	N	-	1	0	SIM1	100945170	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.181000	0.71988	2.367000	0.80283	0.528000	0.53228	AAC	-	NULL		0.438	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	protein_coding	OTTHUMT00000041628.3	T	NM_005068	-		100838449	-1	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100838449	T	G	100838449	3	3	75	1	0	0	0	0	1	0	0	0	14331	1841	64	5	215	5	SIM1	6	100838449	Missense_Mutation	SNP	T	TCGA-DX-A6BK-01A-11D-A307-09	59641184	100838449	70276618	9	3997											
ZNF716	441234	genome.wustl.edu	37	chr7	57528451	57528451	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacatgttctcatttcacccAagaccttcagtcagagcagg	7	12	4	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr7:57528451A>T	ENST00000420713.1	+	4	396	c.284A>T	c.(283-285)cAa>cTa	p.Q95L		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	95					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)|kidney(1)|lung(20)|ovary(2)	24						CATTTCACCCAAGACCTTCAG	0.323																																																	0								ENSG00000182111						59	58	59					7																	57528451		692	1591	2283	ZNF716	SO:0001583	missense	0			-	HGNC	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.284A>T	7.37:g.57528451A>T	ENSP00000394248:p.Gln95Leu	Somatic	0	135	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	120	18.37		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q95L	ENST00000420713.1	37	c.284	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069074	0.36470	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05513	3.43	0.195	0.195	0.15151	.	.	.	.	.	T	0.13329	0.0323	L	0.47078	1.49	0.19575	N	0.999963	D	0.60160	0.987	D	0.67725	0.953	T	0.16158	-1.0412	9	0.66056	D	0.02	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	83	A6NP11	ZN716_HUMAN	L	95;83	ENSP00000394248:Q95L	ENSP00000387687:Q83L	Q	+	2	0	ZNF716	57532393	0.009000	0.17119	0.049000	0.19019	0.049000	0.14656	0.806000	0.27126	0.257000	0.21650	0.254000	0.18369	CAA	-	NULL		0.323	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	protein_coding	OTTHUMT00000345309.1	A	NM_001159279	-		57528451	1	no_errors	ENST00000420713	ensembl	human	known	74_37	missense	SNP	0.458	T	T	57528451	A	T	57528451	3	4	75	1	0	0	0	0	1	0	0	0	18126	130	5	5	298	5	ZNF716	7	57528451	Missense_Mutation	SNP	A	TCGA-DX-A6BK-01A-11D-A307-09		57528451	101610212	10	3998											
PCLO	27445	genome.wustl.edu	37	chr7	82585951	82585951	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggctgttcaggagaaacttCatggggttgtgttttctttt	12	5	3	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr7:82585951C>A	ENST00000333891.9	-	5	4655	c.4318G>T	c.(4318-4320)Gaa>Taa	p.E1440*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E1440*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1440K(2)|p.E1371K(1)		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						GGAGAAACTTCATGGGGTTGT	0.378																																																	3	Substitution - Missense(3)	lung(3)						ENSG00000186472						130	120	123					7																	82585951		1823	4075	5898	PCLO	SO:0001587	stop_gained	0			-	HGNC	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.4318G>T	7.37:g.82585951C>A	ENSP00000334319:p.Glu1440*	Somatic	0	200	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	197	8.37		Nonsense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E1440*	ENST00000333891.9	37	c.4318	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.951791	0.99494	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.62	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.58	0.39481	0.0:0.737:0.0:0.263	.	.	.	.	X	1371;1440;1440	.	ENSP00000334319:E1440X	E	-	1	0	PCLO	82423887	0.004000	0.15560	0.001000	0.08648	0.566000	0.35808	1.898000	0.39809	1.018000	0.39521	0.655000	0.94253	GAA	-	NULL		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82585951	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	82585951	C	A	82585951	4	1	75	1	0	0	0	0	0	1	0	0	11585	835	29	3	11211	3	PCLO	7	82585951	Nonsense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	25057500	82585951	76552712	11	3999											
TRIP6	7205	genome.wustl.edu	37	chr7	100470808	100470808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaggagtgtgggctgctGctctcctctgagggcgagtg	16	10	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr7:100470808G>A	ENST00000200457.4	+	9	1674	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	SRRT_ENST00000388793.4_5'Flank|SRRT_ENST00000432932.1_5'Flank|SRRT_ENST00000347433.4_5'Flank|SRRT_ENST00000457580.2_5'Flank	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	438	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGGGCTGCTGCTCTCCTCTG	0.612																																																	0								ENSG00000087077						60	55	56					7																	100470808		2203	4300	6503	TRIP6	SO:0001819	synonymous_variant	0			-	HGNC	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1314G>A	7.37:g.100470808G>A		Somatic	0	98	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	81	19.80	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L438	ENST00000200457.4	37	c.1314	CCDS5708.1	7																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP6	protein_coding	OTTHUMT00000347151.2	G	NM_003302	-		100470808	1	no_errors	ENST00000200457	ensembl	human	known	74_37	silent	SNP	1.000	A	A	100470808	G	A	100470808	2	1	75	1	0	0	0	0	0	0	0	1	16566	1306	46	2		2	TRIP6	7	100470808	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	17884857	100470808	58667855	12	4000											
CLCN1	1180	genome.wustl.edu	37	chr7	143048760	143048760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccagcttccggaacaCgacttcaactcgaaagagta	8	13	1	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr7:143048760C>T	ENST00000343257.2	+	23	2756	c.2669C>T	c.(2668-2670)aCg>aTg	p.T890M		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	890					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)			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)					TTCCGGAACACGACTTCAACT	0.582																																																	0								ENSG00000188037						46	43	44					7																	143048760		2203	4300	6503	CLCN1	SO:0001583	missense	0			-	HGNC	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.2669C>T	7.37:g.143048760C>T	ENSP00000339867:p.Thr890Met	Somatic	0	83	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	90	8.16	A4D2H5|Q2M202	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.T890M	ENST00000343257.2	37	c.2669	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397568	0.42512	.	.	ENSG00000188037	ENST00000343257	D	0.86097	-2.07	4.8	4.8	0.61643	.	0.128581	0.50627	D	0.000108	D	0.89591	0.6759	M	0.62723	1.935	0.34906	D	0.74699	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.947	D	0.91645	0.5330	10	0.44086	T	0.13	.	10.9786	0.47480	0.0:0.9089:0.0:0.0911	.	89;890	Q75L28;P35523	.;CLCN1_HUMAN	M	890	ENSP00000339867:T890M	ENSP00000339867:T890M	T	+	2	0	CLCN1	142758882	0.376000	0.25098	0.068000	0.19968	0.193000	0.23685	3.858000	0.55979	2.378000	0.81104	0.561000	0.74099	ACG	-	NULL		0.582	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	protein_coding	OTTHUMT00000327420.1	C	NM_000083	-		143048760	1	no_errors	ENST00000343257	ensembl	human	known	74_37	missense	SNP	0.835	T	T	143048760	C	T	143048760	3	4	75	1	0	0	0	0	1	0	0	0	3464	536	19	1	2759	1	CLCN1	7	143048760	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	42577952	143048760	16089903	13	4001											
ZNF467	168544	genome.wustl.edu	37	chr7	149461818	149461818	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taggctcagaagaagagcggGggcggcgccacctcgggggg	20	10	1	3			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr7:149461818G>C	ENST00000302017.3	-	5	2186	c.1773C>G	c.(1771-1773)ccC>ccG	p.P591P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAAGAGCGGGGGCGGCGCCA	0.701																																																	0								ENSG00000181444																																			ZNF467	SO:0001819	synonymous_variant	0			-	HGNC	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1773C>G	7.37:g.149461818G>C		Somatic	0	64	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	73	9.88		Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P591	ENST00000302017.3	37	c.1773	CCDS5899.1	7																																																																																			-	NULL		0.701	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	protein_coding	OTTHUMT00000349833.1	G	NM_207336	-		149461818	-1	no_errors	ENST00000302017	ensembl	human	known	74_37	silent	SNP	0.004	C	C	149461818	G	C	149461818	2	2	75	1	0	0	0	0	0	0	0	1	17934	1219	43	4		4	ZNF467	7	149461818	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	6413058	149461818	9676845	14	4002											
RP1L1	94137	genome.wustl.edu	37	chr8	10467754	10467754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctccaggttcgagctcGccctctgctcctcactgtct	8	17	3	0	rs201382029		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr8:10467754G>A	ENST00000382483.3	-	4	4077	c.3854C>T	c.(3853-3855)gCg>gTg	p.A1285V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1285			A -> S (in allele RP1L1-3). {ECO:0000269|PubMed:12724644}.		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)				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)		GTTCGAGCTCGCCCTCTGCTC	0.507																																																	0								ENSG00000183638	G	VAL/ALA	6,4168		0,6,2081	164	166	166		3854	-4.6	0	8		166	1,8423		0,1,4211	yes	missense	RP1L1	NM_178857.5	64	0,7,6292	AA,AG,GG		0.0119,0.1437,0.0556	benign	1285/2401	10467754	7,12591	2087	4212	6299	RP1L1	SO:0001583	missense	0			-	HGNC	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.3854C>T	8.37:g.10467754G>A	ENSP00000371923:p.Ala1285Val	Somatic	1	238	0.42		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	217	8.44	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A1285V	ENST00000382483.3	37	c.3854	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438940	0.12104	0.001437	1.19E-4	ENSG00000183638	ENST00000382483	T	0.03860	3.78	4.17	-4.58	0.03410	.	4.365480	0.00993	N	0.003548	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B	0.26363	0.147	B	0.06405	0.002	T	0.38457	-0.9660	10	0.31617	T	0.26	0.6041	1.0446	0.01567	0.2432:0.3253:0.2718:0.1597	.	1285	A6NKC6	.	V	1285	ENSP00000371923:A1285V	ENSP00000371923:A1285V	A	-	2	0	RP1L1	10505164	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.694000	0.05115	-0.498000	0.06632	-0.424000	0.05967	GCG	-	NULL		0.507	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G		rs201382029		10467754	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	SNP	0.000	A	A	10467754	G	A	10467754	3	1	75	1	0	0	0	0	1	0	0	0	13541	1087	38	1	3352	1	RP1L1	8	10467754	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09		10467754	135896268	15	4003											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110487369	110487369	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaagcattattccatttcaGaagaaacgactgactcatat	5	9	2	3			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr8:110487369G>T	ENST00000378402.5	+	51	8732	c.8628G>T	c.(8626-8628)caG>caT	p.Q2876H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2876					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)			TTCCATTTCAGAAGAAACGAC	0.348										HNSCC(38;0.096)																																							0								ENSG00000205038						110	103	105					8																	110487369		1883	4118	6001	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.8628G>T	8.37:g.110487369G>T	ENSP00000367655:p.Gln2876His	Somatic	0	78	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	107	13.01	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Q2876H	ENST00000378402.5	37	c.8628	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572067	0.28092	.	.	ENSG00000205038	ENST00000378402	D	0.85861	-2.04	5.69	3.58	0.41010	.	0.083581	0.50627	D	0.000102	T	0.73853	0.3640	L	0.29908	0.895	0.23572	N	0.997389	B	0.30763	0.294	B	0.35859	0.212	T	0.58440	-0.7636	10	0.14656	T	0.56	.	5.705	0.17903	0.1837:0.0:0.6556:0.1607	.	2876	Q86WI1	PKHL1_HUMAN	H	2876	ENSP00000367655:Q2876H	ENSP00000367655:Q2876H	Q	+	3	2	PKHD1L1	110556545	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.212000	0.42835	1.400000	0.46741	0.655000	0.94253	CAG	-	NULL		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-		110487369	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	0.999	T	T	110487369	G	T	110487369	3	4	75	1	0	0	0	0	1	0	0	0	11974	933	33	3	8830	3	PKHD1L1	8	110487369	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	100019615	110487369	35876653	16	4004											
DOCK8	81704	genome.wustl.edu	37	chr9	371452	371452	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgacttttatgaagaagtGaaaattaagctccccgctaa	7	9	0	4			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:371452G>A	ENST00000453981.1	+	17	2005	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Silent_p.V98V|DOCK8_ENST00000432829.2_Silent_p.V563V|DOCK8_ENST00000469391.1_Silent_p.V563V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	631	DHR-1.				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)		ATGAAGAAGTGAAAATTAAGC	0.428																																																	0								ENSG00000107099						98	93	94					9																	371452		2203	4300	6503	DOCK8	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000453981.1:c.1893G>A	9.37:g.371452G>A		Somatic	0	55	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.V631	ENST00000453981.1	37	c.1893	CCDS6440.2	9																																																																																			-	NULL		0.428	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307	-		371452	1	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	SNP	0.998	A	A	371452	G	A	371452	2	1	75	1	0	0	0	0	0	0	0	1	4695	1277	45	2		2	DOCK8	9	371452	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09		371452	140841979	17	4005			1	50		3	3	95	G		9.2354e-09
DOCK8	81704	genome.wustl.edu	37	chr9	371527	371527	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccatatcagctgtcagcaGaagcaaggagcctccgtgga	11	11	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:371527G>A	ENST00000453981.1	+	17	2080	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Silent_p.Q123Q|DOCK8_ENST00000432829.2_Silent_p.Q588Q|DOCK8_ENST00000469391.1_Silent_p.Q588Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	656	DHR-1.				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)		GCTGTCAGCAGAAGCAAGGAG	0.493																																																	0								ENSG00000107099						98	87	91					9																	371527		2203	4300	6503	DOCK8	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000453981.1:c.1968G>A	9.37:g.371527G>A		Somatic	0	66	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	58	23.68	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.Q656	ENST00000453981.1	37	c.1968	CCDS6440.2	9																																																																																			-	NULL		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307	-		371527	1	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	SNP	1.000	A	A	371527	G	A	371527	2	1	75	1	0	0	0	0	0	0	0	1	4695	933	33	2		2	DOCK8	9	371527	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	75	371527	140841904	18	4006			1	50		3	3	95	G		9.2354e-09
DOCK8	81704	genome.wustl.edu	37	chr9	371546	371546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagcaaggagcctccgtgGaaactctcctgggatattca	11	10	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:371546G>A	ENST00000453981.1	+	17	2099	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Missense_Mutation_p.E130K|DOCK8_ENST00000432829.2_Missense_Mutation_p.E595K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E595K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	663	DHR-1.				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)		AGCCTCCGTGGAAACTCTCCT	0.483																																																	0								ENSG00000107099						81	73	76					9																	371546		2203	4300	6503	DOCK8	SO:0001583	missense	0			-	HGNC	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	ENST00000453981.1:c.1987G>A	9.37:g.371546G>A	ENSP00000408464:p.Glu663Lys	Somatic	0	70	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	55	26.67	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.E663K	ENST00000453981.1	37	c.1987	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	34	5.345148	0.95807	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.20881	2.27;2.26;2.3;2.04	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	M	0.72576	2.205	0.80722	D	1	D;D;D	0.60160	0.975;0.987;0.987	D;D;D	0.69654	0.934;0.965;0.965	T	0.42120	-0.9470	10	0.66056	D	0.02	.	19.8831	0.96905	0.0:0.0:1.0:0.0	.	595;130;663	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	K	663;663;595;595;130	ENSP00000408464:E663K;ENSP00000394888:E595K;ENSP00000419438:E595K;ENSP00000371766:E130K	ENSP00000287364:E663K	E	+	1	0	DOCK8	361546	1.000000	0.71417	0.913000	0.36048	0.955000	0.61496	9.756000	0.98918	2.705000	0.92388	0.655000	0.94253	GAA	-	NULL		0.483	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307	-		371546	1	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	371546	G	A	371546	3	1	75	1	0	0	0	0	1	0	0	0	4695	1175	41	2	2053	2	DOCK8	9	371546	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	19	371546	140841885	19	4007			1	50		3	3	95	G		9.2354e-09
HAUS6	54801	genome.wustl.edu	37	chr9	19087122	19087122	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttccaatcctatacattcaGatctcaagtttcgtacctgc	4	12	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:19087122G>C	ENST00000380502.3	-	6	1084	c.617C>G	c.(616-618)tCt>tGt	p.S206C	HAUS6_ENST00000380496.1_Missense_Mutation_p.S70C|Y_RNA_ENST00000364248.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	206					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TATACATTCAGATCTCAAGTT	0.338																																																	0								ENSG00000147874						150	142	145					9																	19087122		2203	4300	6503	HAUS6	SO:0001583	missense	0			-	HGNC	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.617C>G	9.37:g.19087122G>C	ENSP00000369871:p.Ser206Cys	Somatic	0	120	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	106	16.54	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP							NULL	p.S206C	ENST00000380502.3	37	c.617	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222212	0.39300	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.23147	1.92;1.92	5.18	4.25	0.50352	.	0.349077	0.30676	N	0.009111	T	0.45256	0.1333	M	0.76002	2.32	0.38271	D	0.94215	D;D	0.76494	0.986;0.999	P;D	0.63192	0.789;0.912	T	0.52697	-0.8541	10	0.87932	D	0	-2.4227	9.3077	0.37885	0.1063:0.0:0.8937:0.0	.	70;206	Q5VY60;Q7Z4H7	.;HAUS6_HUMAN	C	206;70	ENSP00000369871:S206C;ENSP00000369865:S70C	ENSP00000369865:S70C	S	-	2	0	HAUS6	19077122	1.000000	0.71417	0.987000	0.45799	0.084000	0.17831	3.352000	0.52239	1.239000	0.43787	0.591000	0.81541	TCT	-	NULL		0.338	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	protein_coding	OTTHUMT00000051825.1	G	NM_017645	-		19087122	-1	no_errors	ENST00000380502	ensembl	human	known	74_37	missense	SNP	0.993	C	C	19087122	G	C	19087122	3	2	75	1	0	0	0	0	1	0	0	0	6972	942	33	4	2298	4	HAUS6	9	19087122	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	18715576	19087122	122126309	20	4008											
RNF38	152006	genome.wustl.edu	37	chr9	36390529	36390529	+	Missense_Mutation	SNP	G	G	A													ctgatcacttgggaggagagGgaacaggctctgaagtctca							TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:36390529G>A	ENST00000259605.6	-	2	204	c.97C>T	c.(97-99)Cct>Tct	p.P33S	RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	33					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GGGAGGAGAGGGAACAGGCTC	0.468																																																	0								ENSG00000137075						138	135	136					9																	36390529		2203	4300	6503	RNF38	SO:0001583	missense	0			-	HGNC		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.97C>T	9.37:g.36390529G>A	ENSP00000259605:p.Pro33Ser	Somatic	0	81	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	80	13.98	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P33S	ENST00000259605.6	37	c.97	CCDS6603.1	9	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437302	0.62955	.	.	ENSG00000137075	ENST00000259605	T	0.13420	2.59	5.73	5.73	0.89815	.	0.198451	0.34700	N	0.003757	T	0.14399	0.0348	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25641	-1.0126	10	0.10636	T	0.68	-7.4734	15.3962	0.74794	0.0:0.0:1.0:0.0	.	33	Q9H0F5	RNF38_HUMAN	S	33	ENSP00000259605:P33S	ENSP00000259605:P33S	P	-	1	0	RNF38	36380529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.489000	0.60309	2.699000	0.92147	0.655000	0.94253	CCT	-	NULL		0.468	RNF38-001	KNOWN	basic|CCDS	protein_coding	RNF38	protein_coding	OTTHUMT00000052422.3	G	NM_022781	-		36390529	-1	no_errors	ENST00000259605	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36390529	G	A	36390529	3	1	75	1	0	0	0	0	1	0	0	0	13498	1232	43	2	1494	2	RNF38	9	36390529	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	17303407	36390529	104822902	21	4009	56	2									
RNF38	152006	genome.wustl.edu	37	chr9	36390530	36390530	+	Silent	SNP	G	G	A													tgatcacttgggaggagaggGaacaggctctgaagtctcac							TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:36390530G>A	ENST00000259605.6	-	2	203	c.96C>T	c.(94-96)ttC>ttT	p.F32F	RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	32					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GGAGGAGAGGGAACAGGCTCT	0.473																																																	0								ENSG00000137075						137	135	136					9																	36390530		2203	4300	6503	RNF38	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.96C>T	9.37:g.36390530G>A		Somatic	0	81	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	80	13.83	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F32	ENST00000259605.6	37	c.96	CCDS6603.1	9																																																																																			-	NULL		0.473	RNF38-001	KNOWN	basic|CCDS	protein_coding	RNF38	protein_coding	OTTHUMT00000052422.3	G	NM_022781	-		36390530	-1	no_errors	ENST00000259605	ensembl	human	known	74_37	silent	SNP	1.000	A	A	36390530	G	A	36390530	2	1	75	1	0	0	0	0	0	0	0	1	13498	1165	41	2		2	RNF38	9	36390530	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	1	36390530	104822901	22	4010	56	2									
RNF38	152006	genome.wustl.edu	37	chr9	36390607	36390607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgctgaattggccccggGagatatctgggaaaaagagg	15	6	1	4			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:36390607G>A	ENST00000259605.6	-	2	126	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	7					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TTGGCCCCGGGAGATATCTGG	0.468																																																	0								ENSG00000137075						91	92	92					9																	36390607		2203	4300	6503	RNF38	SO:0001583	missense	0			-	HGNC		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.19C>T	9.37:g.36390607G>A	ENSP00000259605:p.Pro7Ser	Somatic	0	62	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	60	13.04	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P7S	ENST00000259605.6	37	c.19	CCDS6603.1	9	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436287	0.62955	.	.	ENSG00000137075	ENST00000259605	T	0.13420	2.59	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000006	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B	0.25667	0.131	B	0.13407	0.009	T	0.19128	-1.0315	10	0.87932	D	0	-4.4408	15.3962	0.74794	0.0:0.0:1.0:0.0	.	7	Q9H0F5	RNF38_HUMAN	S	7	ENSP00000259605:P7S	ENSP00000259605:P7S	P	-	1	0	RNF38	36380607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.010000	0.49559	2.699000	0.92147	0.655000	0.94253	CCC	-	NULL		0.468	RNF38-001	KNOWN	basic|CCDS	protein_coding	RNF38	protein_coding	OTTHUMT00000052422.3	G	NM_022781	-		36390607	-1	no_errors	ENST00000259605	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36390607	G	A	36390607	3	1	75	1	0	0	0	0	1	0	0	0	13498	1174	41	2	1572	2	RNF38	9	36390607	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	77	36390607	104822824	23	4011											
LAMC3	10319	genome.wustl.edu	37	chr9	133914292	133914292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgaggaatgcacgtttgatCgggagctcttccgcagcaca	12	12	1	1	rs146887458		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr9:133914292C>T	ENST00000361069.4	+	5	1151	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	340	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACGTTTGATCGGGAGCTCTT	0.607																																																	0								ENSG00000050555						72	74	74					9																	133914292		2203	4300	6503	LAMC3	SO:0001583	missense	0			-	HGNC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1018C>T	9.37:g.133914292C>T	ENSP00000354360:p.Arg340Trp	Somatic	0	42	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	61	17.57	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R340W	ENST00000361069.4	37	c.1018	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598470	0.28445	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.28255	1.62	4.85	2.89	0.33648	EGF-like, laminin (3);	0.797278	0.11827	N	0.525646	T	0.27278	0.0669	L	0.49640	1.575	0.35140	D	0.768801	B	0.18968	0.032	B	0.20955	0.032	T	0.30880	-0.9963	10	0.62326	D	0.03	.	6.2969	0.21091	0.1396:0.6526:0.1283:0.0795	.	340	Q9Y6N6	LAMC3_HUMAN	W	340	ENSP00000354360:R340W	ENSP00000325873:R340W	R	+	1	2	LAMC3	132904113	0.002000	0.14202	0.987000	0.45799	0.600000	0.36913	0.337000	0.19841	1.081000	0.41110	0.650000	0.86243	CGG	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.607	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	C	NM_006059	rs146887458		133914292	1	no_errors	ENST00000361069	ensembl	human	known	74_37	missense	SNP	0.990	T	T	133914292	C	T	133914292	3	4	75	1	0	0	0	0	1	0	0	0	8618	875	31	1	1036	1	LAMC3	9	133914292	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	97523685	133914292	7299139	24	4012											
MEN1	4221	genome.wustl.edu	37	chr11	64572627	64572627	+	Frame_Shift_Del	DEL	A	A	-													agaatcgcagcaggtgggcgAagcactcagggtcctggagg							TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr11:64572627delA	ENST00000337652.1	-	9	1747	c.1244delT	c.(1243-1245)ttcfs	p.F415fs	MEN1_ENST00000394376.1_Frame_Shift_Del_p.F415fs|MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Frame_Shift_Del_p.F410fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.F410fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.F415fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.F375fs|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Frame_Shift_Del_p.F415fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.F415fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000315422.4_Frame_Shift_Del_p.F410fs|MEN1_ENST00000377316.2_Intron	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	415					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGGTGGGCGAAGCACTCAGG	0.627			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0								ENSG00000133895						72	67	69					11																	64572627		2201	4297	6498	MEN1	SO:0001589	frameshift_variant	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism		HGNC	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1244delT	11.37:g.64572627delA	ENSP00000337088:p.Phe415fs	Somatic	0	105	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	51	28.17	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL							pfam_Menin	p.F415fs	ENST00000337652.1	37	c.1244	CCDS8083.1	11																																																																																			-	pfam_Menin		0.627	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	protein_coding	OTTHUMT00000143881.1	A				64572627	-1	no_errors	ENST00000337652	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	64572627	A	-	64572627	7	5	75	1	0	1	0	1	0	0	0	0	9474	246	9	0	611	0	MEN1	11	64572627	Frame_Shift_Del	DEL	A	TCGA-DX-A6BK-01A-11D-A307-09		64572627	70433889	25	4013											
VWF	7450	genome.wustl.edu	37	chr12	6153547	6153547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttggtacactcgagcccTtcagcccgcaggttgtcagc	11	13	2	0			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr12:6153547T>C	ENST00000261405.5	-	18	2606	c.2352A>G	c.(2350-2352)gaA>gaG	p.E784E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	784	Amino-terminal.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACTCGAGCCCTTCAGCCCGCA	0.582																																																	0								ENSG00000110799						99	82	88					12																	6153547		2203	4300	6503	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2352A>G	12.37:g.6153547T>C		Somatic	0	84	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	137	8.67	Q8TCE8|Q99806	Silent	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.E784	ENST00000261405.5	37	c.2352	CCDS8539.1	12																																																																																			-	pirsf_VWF,superfamily_TIL_dom		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	T	NM_000552	-		6153547	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	0.229	C	C	6153547	T	C	6153547	2	2	75	1	0	0	0	0	0	0	0	1	17253	1606	56	5		5	VWF	12	6153547	Silent	SNP	T	TCGA-DX-A6BK-01A-11D-A307-09		6153547	127698348	26	4014											
FGD4	121512	genome.wustl.edu	37	chr12	32751500	32751500	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagagcttatgtcaacCgacttgacctcttagatcag	8	10	3	4	rs118203972		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr12:32751500C>T	ENST00000427716.2	+	5	1094	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FGD4_ENST00000531134.1_Nonsense_Mutation_p.R309*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R361*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R131*|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R336*|FGD4_ENST00000381025.3_5'UTR	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	224	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|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)	p.R224*(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTATGTCAACCGACTTGACCT	0.299																																																	1	Substitution - Nonsense(1)	ovary(1)	GRCh37	CM073065	FGD4	M	rs118203972	ENSG00000139132						87	86	86					12																	32751500		2203	4299	6502	FGD4	SO:0001587	stop_gained	0			-	HGNC	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.670C>T	12.37:g.32751500C>T	ENSP00000394487:p.Arg224*	Somatic	0	48	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R224*	ENST00000427716.2	37	c.670	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037646	0.93630	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	.	.	.	4.91	3.95	0.45737	.	0.000000	0.43110	D	0.000613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1136	13.1135	0.59288	0.2701:0.7299:0.0:0.0	.	.	.	.	X	361;309;224;131;336	.	ENSP00000379089:R224X	R	+	1	2	FGD4	32642767	0.997000	0.39634	0.999000	0.59377	0.763000	0.43281	2.023000	0.41040	2.426000	0.82243	0.655000	0.94253	CGA	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.299	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	protein_coding	OTTHUMT00000268017.1	C	NM_139241	rs118203972		32751500	1	no_errors	ENST00000427716	ensembl	human	known	74_37	nonsense	SNP	0.988	T	T	32751500	C	T	32751500	4	4	75	1	0	0	0	0	0	1	0	0	5837	644	23	1	680	1	FGD4	12	32751500	Nonsense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	26597953	32751500	101100395	27	4015											
HERC2	8924	genome.wustl.edu	37	chr15	28359945	28359945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaggaataaaatccttatCaaccttttaaggagaaaaag	6	7	1	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr15:28359945C>T	ENST00000261609.7	-	90	13834	c.13726G>A	c.(13726-13728)Gat>Aat	p.D4576N		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)		AAATCCTTATCAACCTTTTAA	0.507																																																	0								ENSG00000128731						73	68	70					15																	28359945		2203	4300	6503	HERC2	SO:0001583	missense	0			-	HGNC	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.13726G>A	15.37:g.28359945C>T	ENSP00000261609:p.Asp4576Asn	Somatic	0	112	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	108	20.59		Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.D4576N	ENST00000261609.7	37	c.13726	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.088526	0.94100	.	.	ENSG00000128731	ENST00000261609	T	0.66460	-0.21	5.17	5.17	0.71159	HECT (4);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90473	0.4454	10	0.87932	D	0	.	18.6672	0.91495	0.0:1.0:0.0:0.0	.	4576;265	O95714;Q8ND39	HERC2_HUMAN;.	N	4576	ENSP00000261609:D4576N	ENSP00000261609:D4576N	D	-	1	0	HERC2	26033540	1.000000	0.71417	0.919000	0.36401	0.750000	0.42670	7.787000	0.85759	2.407000	0.81776	0.655000	0.94253	GAT	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.507	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667	-		28359945	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28359945	C	T	28359945	3	4	75	1	0	0	0	0	1	0	0	0	7060	826	29	2	794	2	HERC2	15	28359945	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09		28359945	74171447	28	4016											
FBXL16	146330	genome.wustl.edu	37	chr16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-													gggtgggtgggggtggtggcTggcaggggcggttcttggtg							TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	TGG	TGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W|FBXL16_ENST00000562585.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729																																																	0								ENSG00000127585																																			FBXL16	SO:0001651	inframe_deletion	0				HGNC	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.141_143delCCA	16.37:g.747263_747265delTGG	ENSP00000380746:p.Cys47_Gln48delinsTrp	Somatic	0	9	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	In_Frame_Del	DEL							superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.CQ47in_frame_delW	ENST00000397621.1	37	c.143_141	CCDS10421.1	16																																																																																			-	NULL		0.729	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	protein_coding	OTTHUMT00000206851.2	TGG	NM_153350			747265	-1	no_errors	ENST00000324361	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	747265	TGG	-	747263	7	5	75	1	0	1	0	1	0	0	0	0	5714	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-DX-A6BK-01A-11D-A307-09		747263	89607490	29	4017											
C16orf78	123970	genome.wustl.edu	37	chr16	49412407	49412407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagagattcaggaaggaCgccgcctcctaccgaagcct	12	12	1	1	rs143423404		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr16:49412407C>T	ENST00000299191.3	+	3	414	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	99						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCAGGAAGGACGCCGCCTCCT	0.572																																																	0								ENSG00000166152	C		0,4398		0,0,2199	42	37	39		297	-5.1	0	16	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C16orf78	NM_144602.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		99/266	49412407	1,12997	2199	4300	6499	C16orf78	SO:0001819	synonymous_variant	0			-	HGNC	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.297C>T	16.37:g.49412407C>T		Somatic	0	130	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	145	15.20		Silent	SNP							NULL	p.D99	ENST00000299191.3	37	c.297	CCDS10738.1	16																																																																																			-	NULL		0.572	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	protein_coding	OTTHUMT00000256846.1	C	NM_144602	rs143423404		49412407	1	no_errors	ENST00000299191	ensembl	human	known	74_37	silent	SNP	0.000	T	T	49412407	C	T	49412407	2	4	75	1	0	0	0	0	0	0	0	1	1837	535	19	1		1	C16orf78	16	49412407	Silent	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	48665144	49412407	40942346	30	4018											
GEMIN4	50628	genome.wustl.edu	37	chr17	650858	650858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgttccagaaagcgcTctagttctgcatggcagatg	10	10	3	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr17:650858T>G	ENST00000319004.5	-	2	543	c.425A>C	c.(424-426)gAg>gCg	p.E142A	GEMIN4_ENST00000437269.1_Missense_Mutation_p.E142A|GEMIN4_ENST00000576778.1_Missense_Mutation_p.E131A	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	142					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)		CAGAAAGCGCTCTAGTTCTGC	0.562																																																	0								ENSG00000179409						93	96	95					17																	650858		2046	4188	6234	GEMIN4	SO:0001583	missense	0			-	HGNC	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.425A>C	17.37:g.650858T>G	ENSP00000321706:p.Glu142Ala	Somatic	0	128	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	97	21.14	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP							NULL	p.E142A	ENST00000319004.5	37	c.425	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438363	0.25900	.	.	ENSG00000179409	ENST00000319004;ENST00000437269	T;T	0.13089	2.62;2.62	5.66	5.66	0.87406	.	0.543529	0.20350	N	0.094070	T	0.13329	0.0323	L	0.54323	1.7	0.09310	N	1	B;P	0.38827	0.167;0.649	B;B	0.33454	0.085;0.164	T	0.24870	-1.0148	10	0.49607	T	0.09	-17.7694	9.9704	0.41749	0.0:0.0795:0.0:0.9205	.	142;142	E7EN12;P57678	.;GEMI4_HUMAN	A	142	ENSP00000321706:E142A;ENSP00000392460:E142A	ENSP00000321706:E142A	E	-	2	0	GEMIN4	597608	0.041000	0.20044	0.994000	0.49952	0.485000	0.33311	2.164000	0.42387	2.173000	0.68751	0.533000	0.62120	GAG	-	NULL		0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	protein_coding	OTTHUMT00000437181.1	T	NM_015721	-		650858	-1	no_errors	ENST00000319004	ensembl	human	known	74_37	missense	SNP	0.128	G	G	650858	T	G	650858	3	3	75	1	0	0	0	0	1	0	0	0	6332	1551	54	5	2755	5	GEMIN4	17	650858	Missense_Mutation	SNP	T	TCGA-DX-A6BK-01A-11D-A307-09		650858	80544352	31	4019											
KRT32	3882	genome.wustl.edu	37	chr17	39623131	39623131	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctggagctcctcaatGgtcctgaaatgagactggta	11	9	2	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr17:39623131G>T	ENST00000225899.3	-	1	550	c.447C>A	c.(445-447)acC>acA	p.T149T	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	149	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCTCCTCAATGGTCCTGAAAT	0.557																																																	0								ENSG00000108759						76	68	71					17																	39623131		2203	4300	6503	KRT32	SO:0001819	synonymous_variant	0			-	HGNC	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.447C>A	17.37:g.39623131G>T		Somatic	0	167	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	131	21.08		Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.T149	ENST00000225899.3	37	c.447	CCDS11393.1	17																																																																																			-	pfam_IF		0.557	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	protein_coding	OTTHUMT00000257293.1	G	NM_002278	-		39623131	-1	no_errors	ENST00000225899	ensembl	human	known	74_37	silent	SNP	0.974	T	T	39623131	G	T	39623131	2	4	75	1	0	0	0	0	0	0	0	1	8470	1335	47	3		3	KRT32	17	39623131	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	38972273	39623131	41572079	32	4020											
CSH2	1443	genome.wustl.edu	37	chr17	61950102	61950102	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcggagcagctctagattCtgcaggggaaggaccggcag	16	9	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr17:61950102C>T	ENST00000392886.2	-	4	443		c.e4-1		CSH2_ENST00000345366.7_Intron|CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000336844.5_Splice_Site	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						GCTCTAGATTCTGCAGGGGAA	0.622																																																	0								ENSG00000213218						4	4	4					17																	61950102		1787	3699	5486	CSH2	SO:0001630	splice_region_variant	0			-	HGNC	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.292-1G>A	17.37:g.61950102C>T		Somatic	0	45	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	65	10.96	P01243|Q0VDB1|Q14407	Splice_Site	SNP							-	e4-1	ENST00000392886.2	37	c.292-1	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828436	0.16749	.	.	ENSG00000213218	ENST00000336844;ENST00000392886	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3045	0.66375	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSH2	59303834	1.000000	0.71417	0.676000	0.29932	0.030000	0.12068	5.169000	0.64984	1.924000	0.55735	0.462000	0.41574	.	-	-		0.622	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	protein_coding	OTTHUMT00000417657.1	C	NM_020991	-	Intron	61950102	-1	no_errors	ENST00000392886	ensembl	human	known	74_37	splice_site	SNP	0.999	T	T	61950102	C	T	61950102	5	4	75	1	0	0	0	0	0	0	1	0	3943	927	32	2	418	2	CSH2	17	61950102	Splice_Site	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09	22326971	61950102	19245108	33	4021											
PRKACA	5566	genome.wustl.edu	37	chr19	14204564	14204564	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggaggttccgcagcAggtccttcaagtcagagctg	13	12	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr19:14204564A>T	ENST00000308677.4	-	9	1002	c.806T>A	c.(805-807)cTg>cAg	p.L269Q	PRKACA_ENST00000590853.1_Intron|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000589994.1_Missense_Mutation_p.L261Q|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GTTCCGCAGCAGGTCCTTCAA	0.547																																																	0								ENSG00000072062						91	83	86					19																	14204564		2203	4300	6503	PRKACA	SO:0001583	missense	0			-	HGNC		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.806T>A	19.37:g.14204564A>T	ENSP00000309591:p.Leu269Gln	Somatic	0	107	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	114	14.93	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L269Q	ENST00000308677.4	37	c.806	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407917	0.83340	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	T	0.73363	-0.74	4.89	4.89	0.63831	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	0.41712	D	0.000839	D	0.90452	0.7010	H	0.97365	3.99	0.46901	D	0.999245	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.971	D	0.93112	0.6517	10	0.87932	D	0	.	12.4877	0.55883	1.0:0.0:0.0:0.0	.	269;261	P17612;P17612-2	KAPCA_HUMAN;.	Q	269;261;269	ENSP00000309591:L269Q	ENSP00000309591:L269Q	L	-	2	0	PRKACA	14065564	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.153000	0.94687	1.843000	0.53566	0.402000	0.26972	CTG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.547	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	protein_coding	OTTHUMT00000459004.1	A	NM_002730	-		14204564	-1	no_errors	ENST00000308677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14204564	A	T	14204564	3	4	75	1	0	0	0	0	1	0	0	0	12502	188	7	5	257	5	PRKACA	19	14204564	Missense_Mutation	SNP	A	TCGA-DX-A6BK-01A-11D-A307-09		14204564	44924419	34	4022											
OR10H1	26539	genome.wustl.edu	37	chr19	15918231	15918231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacagcccagcagggccGtgatacacaccaagcccacg	10	15	0	1	rs371707981		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr19:15918231G>A	ENST00000334920.2	-	1	705	c.617C>T	c.(616-618)aCg>aTg	p.T206M		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCAGGGCCGTGATACACAC	0.562													.|||	1	0.000199681	8e-04	0	5008	,	,		22617	0		0	False		,,,				2504	0																0								ENSG00000186723	A	MET/THR	1,4405		0,1,2202	148	116	127		617	-2.7	0	19		127	0,8596		0,0,4298	no	missense	OR10H1	NM_013940.2	81	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	206/319	15918231	1,13001	2203	4298	6501	OR10H1	SO:0001583	missense	0			-	HGNC	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.617C>T	19.37:g.15918231G>A	ENSP00000335596:p.Thr206Met	Somatic	0	370	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	112	318	26.05	Q6IFQ2|Q96R59	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T206M	ENST00000334920.2	37	c.617	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	.	1.907	-0.451753	0.04572	2.27E-4	0.0	ENSG00000186723	ENST00000334920	T	0.37584	1.19	4.71	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.917063	0.09119	N	0.845926	T	0.24160	0.0585	N	0.17764	0.52	0.09310	N	1	B	0.25105	0.118	B	0.32090	0.14	T	0.41016	-0.9532	10	0.62326	D	0.03	.	8.6121	0.33808	0.5579:0.0:0.4421:0.0	.	206	Q9Y4A9	O10H1_HUMAN	M	206	ENSP00000335596:T206M	ENSP00000335596:T206M	T	-	2	0	OR10H1	15779231	0.000000	0.05858	0.004000	0.12327	0.075000	0.17131	-1.174000	0.03105	-0.413000	0.07507	-1.817000	0.00601	ACG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	protein_coding	OTTHUMT00000460364.1	G		-		15918231	-1	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	SNP	0.006	A	A	15918231	G	A	15918231	3	1	75	1	0	0	0	0	1	0	0	0	10907	1145	40	1	343	1	OR10H1	19	15918231	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	1713667	15918231	43210752	35	4023											
ACTN4	81	genome.wustl.edu	37	chr19	39214576	39214576	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccttccctcccacacactaGaaaacagagaagcagctgga	7	15	0	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr19:39214576G>C	ENST00000252699.2	+	14	1627		c.e14-1		ACTN4_ENST00000424234.2_Splice_Site|ACTN4_ENST00000390009.3_Splice_Site	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4						actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCACACACTAGAAAACAGAGA	0.627																																					Colon(168;199 1940 10254 46213 46384)												0								ENSG00000130402						26	29	28					19																	39214576		2203	4300	6503	ACTN4	SO:0001630	splice_region_variant	0			-	HGNC	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1552-1G>C	19.37:g.39214576G>C		Somatic	1	112	0.88		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	137	25.95	A4K467|D6PXK4|O76048	Splice_Site	SNP							-	e14-1	ENST00000252699.2	37	c.1552-1	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967246	0.53507	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8109	0.69994	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTN4	43906416	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.536000	0.98067	2.092000	0.63282	0.561000	0.74099	.	-	-		0.627	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	protein_coding	OTTHUMT00000268091.1	G		-	Intron	39214576	1	no_errors	ENST00000252699	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	39214576	G	C	39214576	5	2	75	1	0	0	0	0	0	0	1	0	207	956	33	4	1605	4	ACTN4	19	39214576	Splice_Site	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	23296345	39214576	19914407	36	4024											
ACTN4	81	genome.wustl.edu	37	chr19	39214715	39214715	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccataccatcgaggagattGaggttcgcaccccccggccc	10	16	0	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr19:39214715G>C	ENST00000252699.2	+	14	1766	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	ACTN4_ENST00000424234.2_Missense_Mutation_p.E174Q|ACTN4_ENST00000390009.3_Missense_Mutation_p.E345Q	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	564					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E564K(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGAGGAGATTGAGGTTCGCAC	0.642																																					Colon(168;199 1940 10254 46213 46384)												1	Substitution - Missense(1)	endometrium(1)						ENSG00000130402						57	59	58					19																	39214715		2203	4300	6503	ACTN4	SO:0001583	missense	0			-	HGNC	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1690G>C	19.37:g.39214715G>C	ENSP00000252699:p.Glu564Gln	Somatic	0	168	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	95	187	33.69	A4K467|D6PXK4|O76048	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E564Q	ENST00000252699.2	37	c.1690	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	2.962	-0.214469	0.06101	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009	T;T;T	0.67865	-0.29;-0.29;-0.29	3.75	3.75	0.43078	.	0.070985	0.56097	D	0.000028	T	0.24005	0.0581	N	0.00121	-2.07	0.51482	D	0.999925	B	0.02656	0.0	B	0.06405	0.002	T	0.51411	-0.8709	10	0.02654	T	1	.	14.8549	0.70329	0.0:0.0:1.0:0.0	.	564	O43707	ACTN4_HUMAN	Q	564;174;345	ENSP00000252699:E564Q;ENSP00000411187:E174Q;ENSP00000439497:E345Q	ENSP00000252699:E564Q	E	+	1	0	ACTN4	43906555	1.000000	0.71417	0.998000	0.56505	0.649000	0.38597	3.658000	0.54482	2.106000	0.64143	0.561000	0.74099	GAG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.642	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	protein_coding	OTTHUMT00000268091.1	G		-		39214715	1	no_errors	ENST00000252699	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39214715	G	C	39214715	3	2	75	1	0	0	0	0	1	0	0	0	207	1291	45	4	1744	4	ACTN4	19	39214715	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	139	39214715	19914268	37	4025											
SYCN	342898	genome.wustl.edu	37	chr19	39694754	39694754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcagttctcatagtaGgggtcgctcttgtcatagag	12	10	3	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr19:39694754G>A	ENST00000318438.6	-	1	152	c.141C>T	c.(139-141)ccC>ccT	p.P47P		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	47					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTCATAGTAGGGGTCGCTCT	0.687																																																	0								ENSG00000179751						21	25	24					19																	39694754		2000	4153	6153	SYCN	SO:0001819	synonymous_variant	0			-	HGNC	BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"insulin synthesis associated 1"	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.141C>T	19.37:g.39694754G>A		Somatic	0	142	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	390	17.47		Silent	SNP							NULL	p.P47	ENST00000318438.6	37	c.141	CCDS46070.1	19																																																																																			-	NULL		0.687	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCN	protein_coding	OTTHUMT00000463830.1	G		-		39694754	-1	no_errors	ENST00000318438	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39694754	G	A	39694754	2	1	75	1	0	0	0	0	0	0	0	1	15437	987	35	2		2	SYCN	19	39694754	Silent	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	480039	39694754	19434229	38	4026											
XKR7	343702	genome.wustl.edu	37	chr20	30584994	30584994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggcctcggcgggagagCgtgcagggacccccacccca	16	15	0	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr20:30584994C>T	ENST00000562532.2	+	3	1648	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	492						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCGGGAGAGCGTGCAGGGAC	0.697																																																	0								ENSG00000260903						28	32	30					20																	30584994		2203	4299	6502	XKR7	SO:0001583	missense	0			-	HGNC	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1474C>T	20.37:g.30584994C>T	ENSP00000477059:p.Arg492Cys	Somatic	0	72	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	71	19.78	Q9NUG5	Missense_Mutation	SNP							pfam_Transport_prot_XK	p.R492C	ENST00000562532.2	37	c.1474	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028545	0.35797	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.442859	0.23598	N	0.046479	T	0.50531	0.1621	N	0.08118	0	0.53005	D	0.999969	D	0.89917	1.0	P	0.59221	0.854	T	0.61973	-0.6952	9	0.72032	D	0.01	-15.4125	17.137	0.86743	0.0:1.0:0.0:0.0	.	492	Q5GH72	XKR7_HUMAN	C	492	.	ENSP00000217299:R492C	R	+	1	0	XKR7	30048655	0.889000	0.30405	0.976000	0.42696	0.176000	0.22953	0.575000	0.23729	2.518000	0.84900	0.561000	0.74099	CGT	-	NULL		0.697	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	protein_coding	OTTHUMT00000078597.3	C	NM_001011718	-		30584994	1	no_errors	ENST00000562532	ensembl	human	known	74_37	missense	SNP	0.996	T	T	30584994	C	T	30584994	3	4	75	1	0	0	0	0	1	0	0	0	17443	768	27	1	1484	1	XKR7	20	30584994	Missense_Mutation	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09		30584994	32440526	39	4027											
CPNE1	8904	genome.wustl.edu	37	chr20	34220147	34220147	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgattgtcctttaattcctGagctgagacctaggtagggg	12	8	0	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr20:34220147G>A	ENST00000317619.3	-	7	788	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	CPNE1_ENST00000397443.1_Nonsense_Mutation_p.Q132*|CPNE1_ENST00000397446.1_Nonsense_Mutation_p.Q132*|CPNE1_ENST00000397442.1_Nonsense_Mutation_p.Q132*|CPNE1_ENST00000397445.1_Nonsense_Mutation_p.Q132*|CPNE1_ENST00000352393.4_Nonsense_Mutation_p.Q132*|CPNE1_ENST00000317677.5_Nonsense_Mutation_p.Q137*			Q99829	CPNE1_HUMAN	copine I	132					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTTAATTCCTGAGCTGAGACC	0.483																																																	0								ENSG00000214078						139	123	128					20																	34220147		2203	4300	6503	CPNE1	SO:0001587	stop_gained	0			-	HGNC	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.394C>T	20.37:g.34220147G>A	ENSP00000326126:p.Gln132*	Somatic	0	132	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	133	16.77	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Nonsense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.Q137*	ENST00000317619.3	37	c.409	CCDS13260.1	20	.	.	.	.	.	.	.	.	.	.	g	17.93	3.508457	0.64410	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000414664;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240;ENST00000437100;ENST00000414711	.	.	.	5.09	5.09	0.68999	.	0.066034	0.64402	U	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.0126	11.7208	0.51680	0.0:0.1778:0.8222:0.0	.	.	.	.	X	132;137;132;132;132;132;132;132;132;132;132;132;132;132;132	.	ENSP00000326126:Q132X	Q	-	1	0	CPNE1	33683561	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	6.092000	0.71414	2.659000	0.90383	0.552000	0.68991	CAG	-	superfamily_C2_dom		0.483	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	protein_coding	OTTHUMT00000078909.3	G	NM_152930	-		34220147	-1	no_errors	ENST00000317677	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	34220147	G	A	34220147	4	1	75	1	0	0	0	0	0	1	0	0	3813	1299	45	2	1267	2	CPNE1	20	34220147	Nonsense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	3635153	34220147	28805373	40	4028											
PLCG1	5335	genome.wustl.edu	37	chr20	39793948	39793948	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccatgatgtactctgagAacgacatcagcaactctatc	6	12	3	2			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr20:39793948A>T	ENST00000373271.1	+	14	1855	c.1450A>T	c.(1450-1452)Aac>Tac	p.N484Y	PLCG1_ENST00000373272.2_Missense_Mutation_p.N484Y|PLCG1_ENST00000244007.3_Missense_Mutation_p.N484Y	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	484					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTACTCTGAGAACGACATCAG	0.577																																																	0								ENSG00000124181						104	95	98					20																	39793948		2203	4300	6503	PLCG1	SO:0001583	missense	0			-	HGNC	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1450A>T	20.37:g.39793948A>T	ENSP00000362368:p.Asn484Tyr	Somatic	0	112	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	150	12.79	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.N484Y	ENST00000373271.1	37	c.1450	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992833	0.74703	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.67523	-0.27;-0.27;-0.27	5.66	5.66	0.87406	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	L	0.60455	1.87	0.80722	D	1	P;P;P	0.47034	0.889;0.732;0.823	P;B;B	0.50314	0.637;0.321;0.434	T	0.75396	-0.3332	10	0.62326	D	0.03	.	15.8839	0.79226	1.0:0.0:0.0:0.0	.	484;484;484	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Y	484	ENSP00000244007:N484Y;ENSP00000362368:N484Y;ENSP00000362369:N484Y	ENSP00000244007:N484Y	N	+	1	0	PLCG1	39227362	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.730000	0.91510	2.158000	0.67659	0.533000	0.62120	AAC	-	superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	protein_coding	OTTHUMT00000080514.3	A	NM_182811	-		39793948	1	no_errors	ENST00000244007	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39793948	A	T	39793948	3	4	75	1	0	0	0	0	1	0	0	0	12037	246	9	5	1504	5	PLCG1	20	39793948	Missense_Mutation	SNP	A	TCGA-DX-A6BK-01A-11D-A307-09	5573801	39793948	23231572	41	4029											
COL18A1	80781	genome.wustl.edu	37	chr21	46908330	46908330	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctcctctgccctgacAgggacctcccggcctgccgg	12	17	2	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chr21:46908330A>G	ENST00000359759.4	+	17	3162		c.e17-1		COL18A1_ENST00000400337.2_Splice_Site|COL18A1_ENST00000355480.5_Splice_Site			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGCCCTGACAGGGACCTCCC	0.577																																																	0								ENSG00000182871						95	104	101					21																	46908330		2024	4160	6184	COL18A1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3142-1A>G	21.37:g.46908330A>G		Somatic	0	79	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	67	9.46	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Splice_Site	SNP							-	e17-2	ENST00000359759.4	37	c.3142-2		21	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059152	0.36373	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759;ENST00000539645	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4738	0.33001	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL18A1	45732758	0.995000	0.38212	0.799000	0.32177	0.019000	0.09904	3.467000	0.53078	1.575000	0.49775	0.529000	0.55759	.	-	-		0.577	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	A		-	Intron	46908330	1	no_errors	ENST00000359759	ensembl	human	known	74_37	splice_site	SNP	0.936	G	G	46908330	A	G	46908330	5	3	75	1	0	0	0	0	0	0	1	0	3677	202	7	5	3320	5	COL18A1	21	46908330	Splice_Site	SNP	A	TCGA-DX-A6BK-01A-11D-A307-09		46908330	1221565	42	4030											
MAP3K15	389840	genome.wustl.edu	37	chrX	19398277	19398277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaccaagctcatggaaCggaggcttgctggtggccat	14	11	2	0			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chrX:19398277C>T	ENST00000338883.4	-	19	2549	c.2550G>A	c.(2548-2550)ccG>ccA	p.P850P	MAP3K15_ENST00000359173.3_Silent_p.P285P|MAP3K15_ENST00000469203.2_Silent_p.P682P|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTCATGGAACGGAGGCTTGC	0.532																																																	0								ENSG00000180815						59	48	52					X																	19398277		2203	4300	6503	MAP3K15	SO:0001819	synonymous_variant	0			-	HGNC	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2550G>A	X.37:g.19398277C>T		Somatic	0	74	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	107	12.30	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P850	ENST00000338883.4	37	c.2550		X																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	protein_coding		C	NM_001001671	-		19398277	-1	no_errors	ENST00000338883	ensembl	human	known	74_37	silent	SNP	0.241	T	T	19398277	C	T	19398277	2	4	75	1	0	0	0	0	0	0	0	1	9251	523	19	1		1	MAP3K15	23	19398277	Silent	SNP	C	TCGA-DX-A6BK-01A-11D-A307-09		19398277	135872283	43	4031											
FAM47C	442444	genome.wustl.edu	37	chrX	37027354	37027354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctcccaagactcgcGtatctcatctccatcgggag	9	15	2	2	rs182976429		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chrX:37027354G>A	ENST00000358047.3	+	1	923	c.871G>A	c.(871-873)Gta>Ata	p.V291I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	291										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGACTCGCGTATCTCATCT	0.602																																																	0								ENSG00000198173						76	66	69					X																	37027354		2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.871G>A	X.37:g.37027354G>A	ENSP00000367913:p.Val291Ile	Somatic	1	274	0.36		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	282	17.01	Q6ZU46	Missense_Mutation	SNP							NULL	p.V291I	ENST00000358047.3	37	c.871	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	g	7.728	0.698554	0.15106	.	.	ENSG00000198173	ENST00000358047	T	0.18502	2.21	0.998	-2.0	0.07433	.	.	.	.	.	T	0.11196	0.0273	L	0.61218	1.895	0.09310	N	1	P	0.36535	0.557	B	0.20184	0.028	T	0.13656	-1.0501	9	0.37606	T	0.19	.	2.7803	0.05359	0.4751:0.2575:0.2674:0.0	.	291	Q5HY64	FA47C_HUMAN	I	291	ENSP00000367913:V291I	ENSP00000367913:V291I	V	+	1	0	FAM47C	36937275	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.841000	0.27613	-0.798000	0.04444	-0.799000	0.03217	GTA	-	NULL		0.602	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	G	NM_001013736	-		37027354	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.001	A	A	37027354	G	A	37027354	3	1	75	1	0	0	0	0	1	0	0	0	5573	1145	40	1	873	1	FAM47C	23	37027354	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	17629077	37027354	118243206	44	4032											
FOXP3	50943	genome.wustl.edu	37	chrX	49114812	49114812	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggcatgggccccgcctcGaagatctcggccctggaagg	16	13	1	1			TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chrX:49114812G>A	ENST00000376207.4	-	2	338	c.151C>T	c.(151-153)Cga>Tga	p.R51*	FOXP3_ENST00000376197.1_Nonsense_Mutation_p.R36*|FOXP3_ENST00000518685.1_Nonsense_Mutation_p.R51*|FOXP3_ENST00000455775.2_Nonsense_Mutation_p.R51*|FOXP3_ENST00000557224.1_Nonsense_Mutation_p.R51*|FOXP3_ENST00000376199.2_Nonsense_Mutation_p.R51*	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	51					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|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 beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GCCCCGCCTCGAAGATCTCGG	0.697																																					GBM(182;1432 2112 16160 23073 31774)												0								ENSG00000049768						18	19	18					X																	49114812		2037	3946	5983	FOXP3	SO:0001587	stop_gained	0			-	HGNC		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.151C>T	X.37:g.49114812G>A	ENSP00000365380:p.Arg51*	Somatic	0	100	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	131	11.49	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Nonsense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R51*	ENST00000376207.4	37	c.151	CCDS14323.1	X	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290352	0.40494	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	.	.	.	4.47	3.61	0.41365	.	0.196027	0.25164	N	0.032649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4213	0.27073	0.1209:0.0:0.8791:0.0	.	.	.	.	X	51;51;51;51;36;51	.	ENSP00000365369:R36X	R	-	1	2	FOXP3	49001756	0.995000	0.38212	0.717000	0.30585	0.042000	0.13812	1.838000	0.39211	1.005000	0.39183	0.513000	0.50165	CGA	-	NULL		0.697	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	protein_coding	OTTHUMT00000060814.1	G	NM_014009	-		49114812	-1	no_errors	ENST00000376207	ensembl	human	known	74_37	nonsense	SNP	0.233	A	A	49114812	G	A	49114812	4	1	75	1	0	0	0	0	0	1	0	0	6030	1066	37	1	1188	1	FOXP3	23	49114812	Nonsense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	12087458	49114812	106155748	45	4033											
BCORL1	63035	genome.wustl.edu	37	chrX	129147217	129147217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggttgactgctcacccGccggagtaaaggctttggac	12	11	1	1	rs147775035		TCGA-DX-A6BK-01A-11D-A307-09	TCGA-DX-A6BK-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9880e9-9009-4ed4-848d-e09740417390	aa4de766-b1c9-4fc1-8163-69c7643ff109	g.chrX:129147217G>A	ENST00000218147.7	+	4	666	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	BCORL1_ENST00000303743.5_Missense_Mutation_p.A157T|BCORL1_ENST00000540052.1_Missense_Mutation_p.A157T|BCORL1_ENST00000359304.2_Missense_Mutation_p.A157T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	157					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						CTGCTCACCCGCCGGAGTAAA	0.577													G|||	0	0	0	0	3775	,	,		15151	0		0	False		,,,				2504	0																0								ENSG00000085185	G	THR/ALA	0,3835		0,0,1632,571	54	48	50		469	4.4	0	X	dbSNP_134	50	1,6727		0,1,2427,1872	no	missense	BCORL1	NM_021946.4	58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	157/1712	129147217	1,10562	2203	4300	6503	BCORL1	SO:0001583	missense	0			-	HGNC	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.469G>A	X.37:g.129147217G>A	ENSP00000218147:p.Ala157Thr	Somatic	0	110	0		0.437070698553481				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	127	22.89	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A157T	ENST00000218147.7	37	c.469	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	8.450	0.852860	0.17106	0.0	1.49E-4	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.50548	0.75;1.12;0.74;0.75	5.28	4.4	0.53042	.	0.000000	0.35151	N	0.003415	T	0.28134	0.0694	N	0.14661	0.345	0.09310	N	1	B;B	0.23442	0.073;0.085	B;B	0.21360	0.034;0.007	T	0.14811	-1.0459	9	.	.	.	-4.0007	10.3573	0.43972	0.077:0.1327:0.7903:0.0	.	157;157	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	T	157	ENSP00000218147:A157T;ENSP00000307541:A157T;ENSP00000352253:A157T;ENSP00000437775:A157T	.	A	+	1	0	BCORL1	128974898	0.018000	0.18449	0.002000	0.10522	0.006000	0.05464	1.485000	0.35519	0.982000	0.38575	0.529000	0.55759	GCC	-	NULL		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	G	NM_021946	rs147775035		129147217	1	no_errors	ENST00000303743	ensembl	human	known	74_37	missense	SNP	0.042	A	A	129147217	G	A	129147217	3	1	75	1	0	0	0	0	1	0	0	0	1387	1087	38	1	479	1	BCORL1	23	129147217	Missense_Mutation	SNP	G	TCGA-DX-A6BK-01A-11D-A307-09	80032405	129147217	26123343	46	4034											
GABRD	2563	genome.wustl.edu	37	chr1	1959608	1959608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccagacggttactcatcgGaggacatcgtctactactgg	10	12	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:1959608G>A	ENST00000378585.4	+	6	651	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	190					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Ketazolam(DB01587)|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)	TTACTCATCGGAGGACATCGT	0.642																																																	0								ENSG00000187730						70	58	62					1																	1959608		2202	4300	6502	GABRD	SO:0001583	missense	0			-	HGNC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.568G>A	1.37:g.1959608G>A	ENSP00000367848:p.Glu190Lys	Somatic	0	33	0		0.61599154991593	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	Q8N4N9	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E190K	ENST00000378585.4	37	c.568	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346990	0.61183	.	.	ENSG00000187730	ENST00000378585	T	0.79247	-1.25	3.58	3.58	0.41010	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	N	0.20530	0.585	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82686	-0.0334	10	0.66056	D	0.02	-16.402	14.7342	0.69404	0.0:0.0:1.0:0.0	.	190	O14764	GBRD_HUMAN	K	190	ENSP00000367848:E190K	ENSP00000367848:E190K	E	+	1	0	GABRD	1949468	1.000000	0.71417	0.870000	0.34147	0.027000	0.11550	9.275000	0.95738	2.031000	0.59945	0.561000	0.74099	GAG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.642	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	protein_coding	OTTHUMT00000098493.1	G	NM_000815	-		1959608	1	no_errors	ENST00000378585	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1959608	G	A	1959608	3	1	76	1	0	0	0	0	1	0	0	0	6171	1175	41	2	590	2	GABRD	1	1959608	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		1959608	247291013	1	4035											
CAMTA1	23261	genome.wustl.edu	37	chr1	7796530	7796530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactcaaagactttccgcGgaatgaccctactccacctg	6	16	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:7796530G>A	ENST00000303635.7	+	13	3400	c.3193G>A	c.(3193-3195)Gga>Aga	p.G1065R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G1065R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1065					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		GACTTTCCGCGGAATGACCCT	0.592			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								ENSG00000171735						132	120	124					1																	7796530		2203	4300	6503	CAMTA1	SO:0001583	missense	0			-	HGNC	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.3193G>A	1.37:g.7796530G>A	ENSP00000306522:p.Gly1065Arg	Somatic	0	43	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.64	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP							pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G1065R	ENST00000303635.7	37	c.3193	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474081	0.84640	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.49720	0.77;0.77	5.58	5.58	0.84498	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.81497	2.545	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;0.999;1.0;0.999	T	0.75789	-0.3194	10	0.87932	D	0	-13.6807	19.5825	0.95473	0.0:0.0:1.0:0.0	.	1065;152;21;1065	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	R	1065;1065;152;21	ENSP00000306522:G1065R;ENSP00000402561:G1065R	ENSP00000306522:G1065R	G	+	1	0	CAMTA1	7719117	1.000000	0.71417	0.341000	0.25589	0.535000	0.34838	9.793000	0.99091	2.624000	0.88883	0.655000	0.94253	GGA	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.592	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	G	NM_015215	-		7796530	1	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7796530	G	A	7796530	3	1	76	1	0	0	0	0	1	0	0	0	2615	1117	39	1	3243	1	CAMTA1	1	7796530	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	5836922	7796530	241454091	2	4036											
PADI6	353238	genome.wustl.edu	37	chr1	17707595	17707595	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatcctgcttgtgaattgCaaccctgctgatgtgggcca	11	12	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:17707595C>A	ENST00000434762.2	+	0	539							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TTGTGAATTGCAACCCTGCTG	0.493																																																	0								ENSG00000256049						76	79	78					1																	17707595		1946	4144	6090	PADI6			0			-	HGNC	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17707595C>A		Somatic	0	26	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	Q330K5|Q70SX3	RNA	SNP							-	NULL	ENST00000434762.2	37	NULL		1																																																																																			-	-		0.493	PADI6-001	KNOWN	basic	processed_transcript	PADI6	processed_transcript	OTTHUMT00000006804.4	C	NM_207421	-		17707595	1	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	SNP	0.017	A	A	17707595	C	A	17707595	1	1	76	0	1	0	0	0	0	0	0	0	11383	718	25	3		3	PADI6	1	17707595	RNA	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	9911065	17707595	231543026	3	4037											
ABCA4	24	genome.wustl.edu	37	chr1	94577077	94577077	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggattgttcacattgcagaaGatcccctggagccacggcag	12	11	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:94577077G>T	ENST00000370225.3	-	3	305	c.219C>A	c.(217-219)atC>atA	p.I73I	ABCA4_ENST00000535735.1_Silent_p.I73I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	73					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)		CATTGCAGAAGATCCCCTGGA	0.483																																																	0								ENSG00000198691						75	73	74					1																	94577077		2203	4300	6503	ABCA4	SO:0001819	synonymous_variant	0			-	HGNC	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.219C>A	1.37:g.94577077G>T		Somatic	0	46	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.I73	ENST00000370225.3	37	c.219	CCDS747.1	1																																																																																			-	tigrfam_Rim_ABC_transpt		0.483	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	G	NM_000350	-		94577077	-1	no_errors	ENST00000370225	ensembl	human	known	74_37	silent	SNP	1.000	T	T	94577077	G	T	94577077	2	4	76	1	0	0	0	0	0	0	0	1	34	932	33	3		3	ABCA4	1	94577077	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	76869482	94577077	154673544	4	4038											
LIX1L	128077	genome.wustl.edu	37	chr1	145497479	145497479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaagggcaaatcaatgttGgagttccaggtactttccca	9	9	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:145497479G>T	ENST00000369308.3	+	4	758	c.684G>T	c.(682-684)ttG>ttT	p.L228F	RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	228										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATCAATGTTGGAGTTCCAGG	0.453																																																	0								ENSG00000152022						81	66	71					1																	145497479		2203	4300	6503	LIX1L	SO:0001583	missense	0			-	HGNC	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"Lix1 homolog (mouse) like", "Lix1 homolog (chicken)-like"			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.684G>T	1.37:g.145497479G>T	ENSP00000358314:p.Leu228Phe	Somatic	0	40	0		0.61599154991593	65	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6AI36	Missense_Mutation	SNP							NULL	p.L228F	ENST00000369308.3	37	c.684	CCDS915.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000016	0.74818	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.1	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.70657	0.3249	M	0.78049	2.395	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	T	0.75470	-0.3306	9	0.87932	D	0	-19.2704	10.0195	0.42035	0.1054:0.0:0.8946:0.0	.	228	Q8IVB5	LIX1L_HUMAN	F	228;175	.	ENSP00000358314:L228F	L	+	3	2	LIX1L	144208836	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.212000	0.58514	1.285000	0.44548	0.563000	0.77884	TTG	-	NULL		0.453	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1L	protein_coding	OTTHUMT00000038513.1	G	NM_153713	-		145497479	1	no_errors	ENST00000369308	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145497479	G	T	145497479	3	4	76	1	0	0	0	0	1	0	0	0	8834	1339	47	3	698	3	LIX1L	1	145497479	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	50920402	145497479	103753142	5	4039											
PGLYRP3	114771	genome.wustl.edu	37	chr1	153271624	153271624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcaattcctagggcaAtatcgttgaatccataagtg	10	7	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:153271624A>G	ENST00000290722.1	-	6	864	c.812T>C	c.(811-813)aTt>aCt	p.I271T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	271					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTAGGGCAATATCGTTGAA	0.532																																																	0								ENSG00000159527						114	96	102					1																	153271624		2203	4300	6503	PGLYRP3	SO:0001583	missense	0			-	HGNC	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.812T>C	1.37:g.153271624A>G	ENSP00000290722:p.Ile271Thr	Somatic	0	53	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	A1A4U8|Q5SY65	Missense_Mutation	SNP							pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.I271T	ENST00000290722.1	37	c.812	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007623	0.35415	.	.	ENSG00000159527	ENST00000290722	T	0.12672	2.66	4.59	4.59	0.56863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.096973	0.43416	D	0.000566	T	0.13329	0.0323	M	0.79805	2.47	0.34518	D	0.707825	P	0.51537	0.946	P	0.50617	0.646	T	0.12785	-1.0534	10	0.17832	T	0.49	-33.1972	10.3569	0.43969	1.0:0.0:0.0:0.0	.	271	Q96LB9	PGRP3_HUMAN	T	271	ENSP00000290722:I271T	ENSP00000290722:I271T	I	-	2	0	PGLYRP3	151538248	0.719000	0.27986	0.995000	0.50966	0.782000	0.44232	4.643000	0.61390	1.700000	0.51204	0.260000	0.18958	ATT	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain		0.532	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	protein_coding	OTTHUMT00000039488.1	A	NM_052891	-		153271624	-1	no_errors	ENST00000290722	ensembl	human	known	74_37	missense	SNP	0.995	G	G	153271624	A	G	153271624	3	3	76	1	0	0	0	0	1	0	0	0	11797	101	4	5	221	5	PGLYRP3	1	153271624	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	7774145	153271624	95978997	6	4040											
PEX19	5824	genome.wustl.edu	37	chr1	160251926	160251926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatgttcccttccccaTccccttcgtccatgcctagc	8	17	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:160251926T>C	ENST00000368072.5	-	5	518	c.497A>G	c.(496-498)gAt>gGt	p.D166G	PEX19_ENST00000440949.3_Missense_Mutation_p.D76G|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.D19G|DCAF8_ENST00000556710.1_Missense_Mutation_p.D19G	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	166					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTTCCCCATCCCCTTCGTC	0.502																																																	0								ENSG00000132716						143	116	125					1																	160251926		2203	4300	6503	DCAF8	SO:0001583	missense	0			-	HGNC	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.497A>G	1.37:g.160251926T>C	ENSP00000357051:p.Asp166Gly	Somatic	0	41	0		0.61599154991593	95	1.02	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP							pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D19G	ENST00000368072.5	37	c.56	CCDS1201.1	1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203753	0.58234	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.63744	-0.06;-0.06	5.38	4.25	0.50352	.	0.223546	0.47455	N	0.000227	T	0.16171	0.0389	N	0.03948	-0.315	0.53005	D	0.999964	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.11131	-1.0600	10	0.11794	T	0.64	-9.4486	10.5264	0.44952	0.0:0.0777:0.0:0.9223	.	19;166	G3V3G9;P40855	.;PEX19_HUMAN	G	19;19;36;166;146;76;146	ENSP00000451989:D19G;ENSP00000451235:D19G	ENSP00000357051:D166G	D	-	2	0	RP11-574F21.3;PEX19;DCAF8	158518550	0.995000	0.38212	0.997000	0.53966	0.985000	0.73830	3.301000	0.51842	0.874000	0.35823	0.460000	0.39030	GAT	-	pfam_Pex19		0.502	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8	protein_coding	OTTHUMT00000080642.2	T	NM_002857	-		160251926	-1	no_errors	ENST00000608310	ensembl	human	known	74_37	missense	SNP	0.994	C	C	160251926	T	C	160251926	3	2	76	1	0	0	0	0	1	0	0	0	11746	1435	50	5	418	5	PEX19	1	160251926	Missense_Mutation	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	6980302	160251926	88998695	7	4041											
HMCN1	83872	genome.wustl.edu	37	chr1	186151337	186151337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacagatgcctgccagcaTgagtgtaagaatacctttgg	10	8	0	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:186151337T>G	ENST00000271588.4	+	105	16561	c.16332T>G	c.(16330-16332)caT>caG	p.H5444Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.H5327Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5444	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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						CCTGCCAGCATGAGTGTAAGA	0.423																																																	0								ENSG00000143341						148	142	144					1																	186151337		2203	4300	6503	HMCN1	SO:0001583	missense	0			-	HGNC	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.16332T>G	1.37:g.186151337T>G	ENSP00000271588:p.His5444Gln	Somatic	0	24	0		0.61599154991593	11	42.11	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.H5444Q	ENST00000271588.4	37	c.16332	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.687510	0.48097	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.86769	-2.17;-2.17;-2.17	5.53	1.86	0.25419	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	N	0.25485	0.75	0.39772	D	0.972175	D	0.55800	0.973	D	0.66196	0.942	D	0.83659	0.0160	10	0.46703	T	0.11	.	9.5339	0.39211	0.0:0.2949:0.0:0.7051	.	5444	Q96RW7	HMCN1_HUMAN	Q	5444;5327;119	ENSP00000271588:H5444Q;ENSP00000356462:H5327Q;ENSP00000406205:H119Q	ENSP00000271588:H5444Q	H	+	3	2	HMCN1	184417960	0.599000	0.26891	0.999000	0.59377	0.992000	0.81027	-0.242000	0.08928	0.055000	0.16094	-0.371000	0.07208	CAT	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	T	NM_031935	-		186151337	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	0.999	G	G	186151337	T	G	186151337	3	3	76	1	0	0	0	0	1	0	0	0	7222	1461	51	5	16750	5	HMCN1	1	186151337	Missense_Mutation	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	25899411	186151337	63099284	8	4042											
INTS7	25896	genome.wustl.edu	37	chr1	212148708	212148708	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagctctttggccatgtcatGattaccctaaaaacaaaaaa	5	9	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:212148708G>T	ENST00000366994.3	-	13	1719	c.1615C>A	c.(1615-1617)Cat>Aat	p.H539N	INTS7_ENST00000440600.2_Missense_Mutation_p.H490N|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.H539N|INTS7_ENST00000366993.3_Missense_Mutation_p.H539N	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	539					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GCCATGTCATGATTACCCTAA	0.378																																																	0								ENSG00000143493						78	85	83					1																	212148708		2203	4300	6503	INTS7	SO:0001583	missense	0			-	HGNC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1615C>A	1.37:g.212148708G>T	ENSP00000355961:p.His539Asn	Somatic	0	39	0		0.61599154991593	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.H490N	ENST00000366994.3	37	c.1468	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703229	0.88924	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.72982	0.979;0.979;0.979;0.979	T	0.49579	-0.8925	10	0.41790	T	0.15	-26.5119	20.6208	0.99490	0.0:0.0:1.0:0.0	.	490;539;539;539	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	N	539;539;539;490	ENSP00000355961:H539N;ENSP00000355960:H539N;ENSP00000355959:H539N;ENSP00000388908:H490N	ENSP00000355959:H539N	H	-	1	0	INTS7	210215331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.507000	0.97996	2.882000	0.98803	0.655000	0.94253	CAT	-	NULL		0.378	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	protein_coding	OTTHUMT00000090142.1	G	NM_015434	-		212148708	-1	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	212148708	G	T	212148708	3	4	76	1	0	0	0	0	1	0	0	0	7785	1290	45	3	1305	3	INTS7	1	212148708	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	25997371	212148708	37101913	9	4043											
EPHX1	2052	genome.wustl.edu	37	chr1	226030114	226030114	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctggctgcctatattctaGagaagttttccacctggacc	9	11	2	1	rs531109510		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr1:226030114G>T	ENST00000366837.4	+	7	1175	c.979G>T	c.(979-981)Gag>Tag	p.E327*	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Nonsense_Mutation_p.E327*	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	327					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATATTCTAGAGAAGTTTTC	0.587																																																	0								ENSG00000143819						125	135	131					1																	226030114		2203	4300	6503	EPHX1	SO:0001587	stop_gained	0			-	HGNC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.979G>T	1.37:g.226030114G>T	ENSP00000355802:p.Glu327*	Somatic	0	53	0		0.61599154991593	139	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Nonsense_Mutation	SNP							pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.E327*	ENST00000366837.4	37	c.979	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.570794	0.98365	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.5744	19.084	0.93194	0.0:0.0:1.0:0.0	.	.	.	.	X	327	.	ENSP00000272167:E327X	E	+	1	0	EPHX1	224096737	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.707000	0.98725	2.575000	0.86900	0.561000	0.74099	GAG	-	pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	protein_coding	OTTHUMT00000092064.1	G	NM_000120	-		226030114	1	no_errors	ENST00000272167	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	226030114	G	T	226030114	4	4	76	1	0	0	0	0	0	1	0	0	5181	943	33	3	1001	3	EPHX1	1	226030114	Nonsense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	13881406	226030114	23220507	10	4044											
NTSR2	23620	genome.wustl.edu	37	chr2	11800227	11800227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgggcatggtacggcaGccagcagatgacatacatga	13	11	0	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:11800227G>T	ENST00000306928.5	-	3	965	c.931C>A	c.(931-933)Ctg>Atg	p.L311M		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	311					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)			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)	TGGTACGGCAGCCAGCAGATG	0.567																																																	0								ENSG00000169006						99	85	89					2																	11800227		2203	4300	6503	NTSR2	SO:0001583	missense	0			-	HGNC	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.931C>A	2.37:g.11800227G>T	ENSP00000303686:p.Leu311Met	Somatic	0	19	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn	p.L311M	ENST00000306928.5	37	c.931	CCDS1681.1	2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752318	0.49362	.	.	ENSG00000169006	ENST00000306928	T	0.76060	-0.99	3.33	-1.29	0.09288	GPCR, rhodopsin-like superfamily (1);	0.719989	0.11770	N	0.531232	T	0.62171	0.2406	L	0.41961	1.31	0.30178	N	0.800642	B	0.31989	0.35	B	0.31614	0.133	T	0.53337	-0.8453	10	0.16896	T	0.51	-1.0449	11.6113	0.51062	0.0:0.0:0.4674:0.5326	.	311	O95665	NTR2_HUMAN	M	311	ENSP00000303686:L311M	ENSP00000303686:L311M	L	-	1	2	NTSR2	11717678	1.000000	0.71417	0.994000	0.49952	0.794000	0.44872	0.648000	0.24828	-0.271000	0.09272	0.650000	0.86243	CTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	protein_coding	OTTHUMT00000239297.1	G		-		11800227	-1	no_errors	ENST00000306928	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11800227	G	T	11800227	3	4	76	1	0	0	0	0	1	0	0	0	10713	962	34	3	309	3	NTSR2	2	11800227	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		11800227	231399146	11	4045											
RAD51AP2	729475	genome.wustl.edu	37	chr2	17699541	17699541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccagaggcagtcgccagcCcgccttaaagacacctccag	9	17	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:17699541C>A	ENST00000399080.2	-	1	165	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	48										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTCGCCAGCCCGCCTTAAAG	0.557																																																	0								ENSG00000214842						72	76	74					2																	17699541		1905	4119	6024	RAD51AP2	SO:0001583	missense	0			-	HGNC	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.142G>T	2.37:g.17699541C>A	ENSP00000382030:p.Gly48Cys	Somatic	0	41	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Missense_Mutation	SNP							NULL	p.G48C	ENST00000399080.2	37	c.142	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334049	0.24253	.	.	ENSG00000214842	ENST00000399080	T	0.33865	1.39	3.72	1.61	0.23674	.	.	.	.	.	T	0.35364	0.0929	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.60345	0.873	T	0.11991	-1.0565	9	0.66056	D	0.02	2.3002	4.1663	0.10308	0.0:0.6159:0.2292:0.1549	.	48	Q09MP3	R51A2_HUMAN	C	48	ENSP00000382030:G48C	ENSP00000382030:G48C	G	-	1	0	RAD51AP2	17563022	0.000000	0.05858	0.070000	0.20053	0.020000	0.10135	-0.035000	0.12205	0.405000	0.25532	0.591000	0.81541	GGC	-	NULL		0.557	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	protein_coding	OTTHUMT00000323801.3	C	NM_001099218	-		17699541	-1	no_errors	ENST00000399080	ensembl	human	known	74_37	missense	SNP	0.070	A	A	17699541	C	A	17699541	3	1	76	1	0	0	0	0	1	0	0	0	12995	623	22	3	3349	3	RAD51AP2	2	17699541	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	5899314	17699541	225499832	12	4046											
C2orf28	51374	genome.wustl.edu	37	chr2	27435287	27435287	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctggtgccctgggctgcCgccctgctcctcgctctggg	13	18	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:27435287C>A	ENST00000606999.1	+	1	109	c.51C>A	c.(49-51)gcC>gcA	p.A17A	ATRAID_ENST00000405489.3_5'UTR|SLC5A6_ENST00000408041.1_5'Flank|SLC5A6_ENST00000310574.3_5'Flank|ATRAID_ENST00000380171.3_Silent_p.A72A	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	17					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CCTGGGCTGCCGCCCTGCTCC	0.692																																																	0								ENSG00000138085						12	14	13					2																	27435287		2160	4239	6399	ATRAID	SO:0001819	synonymous_variant	0			-	HGNC	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.51C>A	2.37:g.27435287C>A		Somatic	0	52	0		0.61599154991593	360	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Silent	SNP							pfscan_EG-like_dom	p.A72	ENST00000606999.1	37	c.216		2																																																																																			-	NULL		0.692	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	ATRAID	protein_coding	OTTHUMT00000470709.1	C	NM_016085	-		27435287	1	no_errors	ENST00000380171	ensembl	human	known	74_37	silent	SNP	0.000	A	A	27435287	C	A	27435287	2	1	76	1	0	0	0	0	0	0	0	1	2162	639	23	3		3	C2orf28	2	27435287	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	9735746	27435287	215764086	13	4047											
SUPT7L	9913	genome.wustl.edu	37	chr2	27880347	27880347	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtcccagccgggcctcCcggtccacagcaaaacgcag	11	17	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:27880347C>A	ENST00000337768.5	-	4	1178	c.609G>T	c.(607-609)cgG>cgT	p.R203R	SUPT7L_ENST00000464789.2_Silent_p.R201R|SUPT7L_ENST00000405491.1_Silent_p.R201R|SUPT7L_ENST00000406540.1_Silent_p.R201R|SUPT7L_ENST00000404798.2_Silent_p.R68R	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	203					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GCCGGGCCTCCCGGTCCACAG	0.522																																																	0								ENSG00000119760						74	79	77					2																	27880347		2012	4167	6179	SUPT7L	SO:0001819	synonymous_variant	0			-	HGNC	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.609G>T	2.37:g.27880347C>A		Somatic	0	53	0		0.61599154991593	117	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4E3W3|Q6IB21|Q9H2T6	Silent	SNP							pfam_BTP,smart_BTP	p.R203	ENST00000337768.5	37	c.609	CCDS42667.1	2																																																																																			-	pfam_BTP,smart_BTP		0.522	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	protein_coding	OTTHUMT00000324568.1	C	NM_014860	-		27880347	-1	no_errors	ENST00000337768	ensembl	human	known	74_37	silent	SNP	0.990	A	A	27880347	C	A	27880347	2	1	76	1	0	0	0	0	0	0	0	1	15408	610	22	3		3	SUPT7L	2	27880347	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	445060	27880347	215319026	14	4048											
FAM98A	25940	genome.wustl.edu	37	chr2	33812310	33812310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgattactactcacccaGtgggctggtcccattggctt	10	11	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:33812310G>T	ENST00000238823.8	-	5	740	c.600C>A	c.(598-600)caC>caA	p.H200Q	FAM98A_ENST00000403368.1_Missense_Mutation_p.H200Q|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.H5Q			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	201							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TACTCACCCAGTGGGCTGGTC	0.328																																																	0								ENSG00000119812						112	113	113					2																	33812310		2203	4300	6503	FAM98A	SO:0001583	missense	0			-	HGNC		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.600C>A	2.37:g.33812310G>T	ENSP00000238823:p.His200Gln	Somatic	0	48	0		0.61599154991593	71	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP							pfam_Uncharacterised_FAM98	p.H200Q	ENST00000238823.8	37	c.600	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	G	4.672	0.124901	0.08931	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000441530	T;T;T	0.34859	1.34;1.34;1.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.00746	-1.225	0.58432	D	0.999995	D;B;D;D	0.76494	0.982;0.046;0.997;0.999	D;B;D;D	0.85130	0.934;0.137;0.991;0.997	T	0.42189	-0.9466	10	0.02654	T	1	-10.7087	10.6341	0.45554	0.1423:0.0:0.8577:0.0	.	201;31;200;77	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	Q	200;201;200;5	ENSP00000238823:H200Q;ENSP00000384711:H200Q;ENSP00000408716:H5Q	ENSP00000238823:H200Q	H	-	3	2	FAM98A	33665814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.299000	0.59073	2.861000	0.98227	0.655000	0.94253	CAC	-	pfam_Uncharacterised_FAM98		0.328	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	protein_coding	OTTHUMT00000325457.2	G	NM_015475	-		33812310	-1	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33812310	G	T	33812310	3	4	76	1	0	0	0	0	1	0	0	0	5658	1020	36	3	972	3	FAM98A	2	33812310	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	5931963	33812310	209387063	15	4049											
SFTPB	6439	genome.wustl.edu	37	chr2	85895264	85895266	+	In_Frame_Del	DEL	GCA	GCA	-													gcctgggccacagagcgtggGcagcagcagcagcagccact					rs147057701		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:85895264_85895266delGCA	ENST00000519937.2	-	1	60_62	c.41_43delTGC	c.(40-45)ctgccc>ccc	p.L14del	SFTPB_ENST00000393822.3_In_Frame_Del_p.L26del|SFTPB_ENST00000409383.1_In_Frame_Del_p.L26del|SFTPB_ENST00000342375.3_In_Frame_Del_p.L14del			P07988	PSPB_HUMAN	surfactant protein B	14					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGCGTGGGCAGCAGCAGCAG	0.64																																																	0								ENSG00000168878		,	56,3532		3,50,1741					,	3.5	0.8		dbSNP_134	24	135,6753		12,111,3321	no	coding,coding	SFTPB	NM_198843.2,NM_000542.3	,	15,161,5062	A1A1,A1R,RR		1.9599,1.5608,1.8232	,	,		191,10285				SFTPB	SO:0001651	inframe_deletion	0				HGNC	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.41_43delTGC	2.37:g.85895273_85895275delGCA	ENSP00000428719:p.Leu14del	Somatic	0	18	0		0.61599154991593	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q96R04	In_Frame_Del	DEL							pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin	p.L26in_frame_del	ENST00000519937.2	37	c.79_77		2																																																																																			-	NULL		0.64	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	SFTPB	protein_coding	OTTHUMT00000252499.3	GCA	NM_198843			85895266	-1	no_errors	ENST00000393822	ensembl	human	known	74_37	in_frame_del	DEL	0.966:0.981:0.990	-	-	85895266	GCA	-	85895264	7	5	76	1	0	1	0	1	0	0	0	0	14199	1203	42	0	1142	0	SFTPB	2	85895264	In_Frame_Del	DEL	GCA	TCGA-DX-A6YQ-01A-12D-A33E-09	52082954	85895264	157304109	16	4050											
TMEM131	23505	genome.wustl.edu	37	chr2	98428883	98428883	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaatagaaagtttacttaCcgatgattgatctgataaag	8	5	1	4			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:98428883C>A	ENST00000186436.5	-	17	2092		c.e17+1			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGTTTACTTACCGATGATTGA	0.338																																																	0								ENSG00000075568						90	84	86					2																	98428883		1841	4091	5932	TMEM131	SO:0001630	splice_region_variant	0			-	HGNC	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1863+1G>T	2.37:g.98428883C>A		Somatic	0	48	0		0.61599154991593	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	39	62.86		Splice_Site	SNP							-	e17+1	ENST00000186436.5	37	c.1863+1	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093046	0.76756	.	.	ENSG00000075568	ENST00000186436	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3239	0.87242	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM131	97795315	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.072000	0.71238	2.832000	0.97577	0.655000	0.94253	.	-	-		0.338	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	protein_coding	OTTHUMT00000329285.2	C	XM_371542	-	Intron	98428883	-1	no_errors	ENST00000186436	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	98428883	C	A	98428883	5	1	76	1	0	0	0	0	0	0	1	0	16051	521	18	3	3887	3	TMEM131	2	98428883	Splice_Site	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	12533619	98428883	144770490	17	4051											
TFCP2L1	29842	genome.wustl.edu	37	chr2	121992844	121992844	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcccatctgcgggaccacaGatctggaccaaatcatctcg	8	14	4	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:121992844G>T	ENST00000263707.5	-	11	1144	c.1047C>A	c.(1045-1047)atC>atA	p.I349I		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	349					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CGGGACCACAGATCTGGACCA	0.552																																																	0								ENSG00000115112						106	101	103					2																	121992844		2203	4300	6503	TFCP2L1	SO:0001819	synonymous_variant	0			-	HGNC	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1047C>A	2.37:g.121992844G>T		Somatic	0	41	0		0.61599154991593	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q4ZG43	Silent	SNP							pfam_CP2,superfamily_SAM/pointed	p.I349	ENST00000263707.5	37	c.1047	CCDS2134.1	2																																																																																			-	superfamily_SAM/pointed		0.552	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	protein_coding	OTTHUMT00000338539.1	G	NM_014553	-		121992844	-1	no_errors	ENST00000263707	ensembl	human	known	74_37	silent	SNP	1.000	T	T	121992844	G	T	121992844	2	4	76	1	0	0	0	0	0	0	0	1	15803	932	33	3		3	TFCP2L1	2	121992844	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	23563961	121992844	121206529	18	4052											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125175087	125175087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attgcactcagtgagagcccGatttgttcgctttgtgcccc	10	12	1	1	rs547539440		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:125175087G>T	ENST00000431078.1	+	4	813	c.449G>T	c.(448-450)cGa>cTa	p.R150L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	150	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R150Q(1)		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)		GTGAGAGCCCGATTTGTTCGC	0.507																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000155052						97	100	99					2																	125175087		1994	4172	6166	CNTNAP5	SO:0001583	missense	0			-	HGNC	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.449G>T	2.37:g.125175087G>T	ENSP00000399013:p.Arg150Leu	Somatic	0	61	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R150L	ENST00000431078.1	37	c.449	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808980	0.90707	.	.	ENSG00000155052	ENST00000431078	D	0.99194	-5.54	6.17	5.3	0.74995	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.142474	0.31989	N	0.006746	D	0.99438	0.9801	M	0.93898	3.47	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.98427	1.0580	10	0.87932	D	0	.	14.0828	0.64937	0.0719:0.0:0.9281:0.0	.	150	Q8WYK1	CNTP5_HUMAN	L	150	ENSP00000399013:R150L	ENSP00000399013:R150L	R	+	2	0	CNTNAP5	124891557	1.000000	0.71417	0.449000	0.26957	0.811000	0.45836	7.444000	0.80532	1.630000	0.50440	0.655000	0.94253	CGA	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G		-		125175087	1	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	SNP	0.998	T	T	125175087	G	T	125175087	3	4	76	1	0	0	0	0	1	0	0	0	3652	1058	37	3	463	3	CNTNAP5	2	125175087	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	3182243	125175087	118024286	19	4053											
LCT	3938	genome.wustl.edu	37	chr2	136548305	136548305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtctgtttcttcccgctggGacactccattctctgtgaca	9	13	3	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:136548305G>T	ENST00000264162.2	-	15	5268	c.5258C>A	c.(5257-5259)tCc>tAc	p.S1753Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1753	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCCCGCTGGGACACTCCATT	0.507																																																	0								ENSG00000115850						157	131	140					2																	136548305		2203	4300	6503	LCT	SO:0001583	missense	0			-	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5258C>A	2.37:g.136548305G>T	ENSP00000264162:p.Ser1753Tyr	Somatic	0	55	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q4ZG58	Missense_Mutation	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.S1753Y	ENST00000264162.2	37	c.5258	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073172	0.76415	.	.	ENSG00000115850	ENST00000264162	T	0.35605	1.3	6.06	6.06	0.98353	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.87900	2.915	0.80722	D	1	D	0.56968	0.978	D	0.69142	0.962	T	0.70905	-0.4745	10	0.87932	D	0	-36.3897	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1753	P09848	LPH_HUMAN	Y	1753	ENSP00000264162:S1753Y	ENSP00000264162:S1753Y	S	-	2	0	LCT	136264775	1.000000	0.71417	0.862000	0.33874	0.347000	0.29111	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	TCC	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	G	NM_002299	-		136548305	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136548305	G	T	136548305	3	4	76	1	0	0	0	0	1	0	0	0	8695	1174	41	3	537	3	LCT	2	136548305	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	11373218	136548305	106651068	20	4054											
LCT	3938	genome.wustl.edu	37	chr2	136570168	136570168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcgttgctgatgaggCgggaggtgtaatgcgacaga	20	5	0	3	rs146706415	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:136570168C>T	ENST00000264162.2	-	7	2076	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	689	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCTGATGAGGCGGGAGGTGTA	0.557													C|||	2	0.000399361	0.0015	0	5008	,	,		20285	0		0	False		,,,				2504	0																0								ENSG00000115850	C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	98	90	93		2066	2.5	1	2	dbSNP_134	93	0,8600		0,0,4300	yes	missense	LCT	NM_002299.2	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	689/1928	136570168	4,13002	2203	4300	6503	LCT	SO:0001583	missense	0			GMAF=0.0005	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2066G>A	2.37:g.136570168C>T	ENSP00000264162:p.Arg689His	Somatic	0	33	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	9	64.29	Q4ZG58	Missense_Mutation	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.R689H	ENST00000264162.2	37	c.2066	CCDS2178.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.51	3.144457	0.57044	9.08E-4	0.0	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.34072	1.38	5.49	2.55	0.30701	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.316283	0.34725	N	0.003738	T	0.29882	0.0747	L	0.45698	1.435	0.44816	D	0.997826	P	0.45715	0.865	B	0.43194	0.411	T	0.02713	-1.1120	10	0.37606	T	0.19	-14.8521	7.055	0.25093	0.2448:0.6204:0.0:0.1348	.	689	P09848	LPH_HUMAN	H	689;121	ENSP00000264162:R689H	ENSP00000264162:R689H	R	-	2	0	LCT	136286638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.562000	0.36353	0.683000	0.31428	0.655000	0.94253	CGC	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	C	NM_002299	rs146706415		136570168	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136570168	C	T	136570168	3	4	76	1	0	0	0	0	1	0	0	0	8695	768	27	1	3761	1	LCT	2	136570168	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	21863	136570168	106629205	21	4055											
TANC1	85461	genome.wustl.edu	37	chr2	160035450	160035450	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgattctcaacgtggccctCgcatccctccaccccatgac	6	20	1	1	rs201404392		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:160035450C>A	ENST00000263635.6	+	14	2523	c.2286C>A	c.(2284-2286)ctC>ctA	p.L762L	TANC1_ENST00000454300.1_Silent_p.L656L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	762					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACGTGGCCCTCGCATCCCTCC	0.547																																																	0								ENSG00000115183						169	172	171					2																	160035450		2007	4157	6164	TANC1	SO:0001819	synonymous_variant	0			-	HGNC	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2286C>A	2.37:g.160035450C>A		Somatic	0	40	0		0.61599154991593	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	C9JD88|Q49AI8	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L762	ENST00000263635.6	37	c.2286	CCDS42766.1	2																																																																																			-	NULL		0.547	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	protein_coding	OTTHUMT00000333135.1	C		-		160035450	1	no_errors	ENST00000263635	ensembl	human	known	74_37	silent	SNP	0.448	A	A	160035450	C	A	160035450	2	1	76	1	0	0	0	0	0	0	0	1	15551	871	31	3		3	TANC1	2	160035450	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	23465282	160035450	83163923	22	4056											
FASTKD1	79675	genome.wustl.edu	37	chr2	170417232	170417232	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagttctgttttgttcacCagttgttgttgaaaatgtcg	10	5	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:170417232C>A	ENST00000453153.2	-	5	982	c.636G>T	c.(634-636)ctG>ctT	p.L212L	FASTKD1_ENST00000453929.2_Silent_p.L212L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	212					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTTTGTTCACCAGTTGTTGTT	0.328																																																	0								ENSG00000138399						39	39	39					2																	170417232		2202	4299	6501	FASTKD1	SO:0001819	synonymous_variant	0			-	HGNC	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.636G>T	2.37:g.170417232C>A		Somatic	0	41	0		0.61599154991593	39	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP							pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.L212	ENST00000453153.2	37	c.636	CCDS33318.1	2																																																																																			-	NULL		0.328	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	protein_coding	OTTHUMT00000337788.2	C	NM_024622	-		170417232	-1	no_errors	ENST00000453153	ensembl	human	known	74_37	silent	SNP	0.935	A	A	170417232	C	A	170417232	2	1	76	1	0	0	0	0	0	0	0	1	5687	581	21	3		3	FASTKD1	2	170417232	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	10381782	170417232	72782141	23	4057											
DUSP19	142679	genome.wustl.edu	37	chr2	183960369	183960369	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaataagtgtgacagaataCaggagaacagttcatgagtt	11	5	1	4			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:183960369C>T	ENST00000354221.4	+	4	812	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Nonsense_Mutation_p.Q162*|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	213					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TGACAGAATACAGGAGAACAG	0.403																																																	0								ENSG00000162999						93	90	91					2																	183960369		2203	4300	6503	DUSP19	SO:0001587	stop_gained	0			-	HGNC	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.637C>T	2.37:g.183960369C>T	ENSP00000346160:p.Gln213*	Somatic	0	45	0		0.61599154991593	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RA79|Q547H4|Q8WYN4	Nonsense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	p.Q213*	ENST00000354221.4	37	c.637	CCDS2289.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351086	0.82132	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	.	.	.	5.56	0.453	0.16639	.	2.446060	0.01435	N	0.014884	.	.	.	.	.	.	0.20307	N	0.999912	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	5.1541	0.15025	0.4328:0.3084:0.1959:0.063	.	.	.	.	X	162;213	.	ENSP00000343905:Q162X	Q	+	1	0	DUSP19	183668614	0.255000	0.24002	0.000000	0.03702	0.141000	0.21300	0.434000	0.21494	-0.121000	0.11787	-0.924000	0.02725	CAG	-	NULL		0.403	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP19	protein_coding	OTTHUMT00000255866.1	C		-		183960369	1	no_errors	ENST00000354221	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	183960369	C	T	183960369	4	4	76	1	0	0	0	0	0	1	0	0	4820	479	17	2	651	2	DUSP19	2	183960369	Nonsense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	13543137	183960369	59239004	24	4058											
DNAH7	56171	genome.wustl.edu	37	chr2	196729289	196729289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccttagagatttcaacttGgaaaactgaataatcagcca	6	10	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:196729289G>T	ENST00000312428.6	-	41	7190	c.7090C>A	c.(7090-7092)Caa>Aaa	p.Q2364K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2364	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCAACTTGGAAAACTGAA	0.473																																																	0								ENSG00000118997						86	85	85					2																	196729289		1914	4129	6043	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7090C>A	2.37:g.196729289G>T	ENSP00000311273:p.Gln2364Lys	Somatic	0	32	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.Q2364K	ENST00000312428.6	37	c.7090	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893157	0.33442	.	.	ENSG00000118997	ENST00000312428	T	0.52057	0.68	5.07	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);	0.061524	0.64402	D	0.000003	T	0.76593	0.4009	H	0.94771	3.58	0.80722	D	1	P	0.50710	0.938	P	0.61874	0.895	D	0.83578	0.0116	10	0.87932	D	0	.	18.2236	0.89910	0.0:0.0:1.0:0.0	.	2364	Q8WXX0	DYH7_HUMAN	K	2364	ENSP00000311273:Q2364K	ENSP00000311273:Q2364K	Q	-	1	0	DNAH7	196437534	1.000000	0.71417	0.983000	0.44433	0.015000	0.08874	6.477000	0.73591	2.636000	0.89361	0.557000	0.71058	CAA	-	superfamily_P-loop_NTPase		0.473	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	G	NM_018897	-		196729289	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196729289	G	T	196729289	3	4	76	1	0	0	0	0	1	0	0	0	4608	1357	47	3	5084	3	DNAH7	2	196729289	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	12768920	196729289	46470084	25	4059											
TMEM169	92691	genome.wustl.edu	37	chr2	216965176	216965176	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaggactgttctccctacAgcattgtggagttgcttgaa	12	8	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:216965176A>T	ENST00000295658.4	+	3	1012	c.805A>T	c.(805-807)Agc>Tgc	p.S269C	TMEM169_ENST00000454545.1_Missense_Mutation_p.S269C|TMEM169_ENST00000406027.2_Missense_Mutation_p.S269C|TMEM169_ENST00000437356.2_Missense_Mutation_p.S269C	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	269						integral component of membrane (GO:0016021)				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)		TTCTCCCTACAGCATTGTGGA	0.537																																																	0								ENSG00000163449						116	110	112					2																	216965176		2203	4300	6503	TMEM169	SO:0001583	missense	0			-	HGNC	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.805A>T	2.37:g.216965176A>T	ENSP00000295658:p.Ser269Cys	Somatic	0	31	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	B2R8W6	Missense_Mutation	SNP							NULL	p.S269C	ENST00000295658.4	37	c.805	CCDS2401.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442766	0.83993	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.99	4.99	0.66335	.	0.038528	0.85682	D	0.000000	T	0.75496	0.3857	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75819	-0.3183	8	.	.	.	-19.0687	13.9978	0.64414	1.0:0.0:0.0:0.0	.	269	Q96HH4	TM169_HUMAN	C	269	.	.	S	+	1	0	TMEM169	216673421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.115000	0.94336	2.078000	0.62432	0.533000	0.62120	AGC	-	NULL		0.537	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	protein_coding	OTTHUMT00000256666.2	A	NM_138390	-		216965176	1	no_errors	ENST00000295658	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216965176	A	T	216965176	3	4	76	1	0	0	0	0	1	0	0	0	16091	188	7	5	811	5	TMEM169	2	216965176	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	20235887	216965176	26234197	26	4060											
ANKZF1	55139	genome.wustl.edu	37	chr2	220099841	220099841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctggaatgcactgcttGctgcttgccgagctggagat	13	10	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:220099841G>T	ENST00000323348.5	+	10	1672	c.1498G>T	c.(1498-1500)Gct>Tct	p.A500S	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A290S|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A500S|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	500						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A500P(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCACTGCTTGCTGCTTGCCG	0.607																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000163516						52	56	55					2																	220099841		2020	4180	6200	ANKZF1	SO:0001583	missense	0			-	HGNC	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1498G>T	2.37:g.220099841G>T	ENSP00000321617:p.Ala500Ser	Somatic	0	20	0		0.61599154991593	39	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q9NVZ4	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A500S	ENST00000323348.5	37	c.1498	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694669	0.30052	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.53857	0.6;0.6;0.6	5.41	4.51	0.55191	Ankyrin repeat-containing domain (2);	0.050173	0.85682	D	0.000000	T	0.47229	0.1434	M	0.63428	1.95	0.32603	N	0.525645	P	0.48407	0.91	B	0.42462	0.388	T	0.58730	-0.7585	10	0.33141	T	0.24	-6.021	8.2297	0.31590	0.1588:0.0:0.8412:0.0	.	500	Q9H8Y5	ANKZ1_HUMAN	S	500;290;500	ENSP00000321617:A500S;ENSP00000386815:A290S;ENSP00000386337:A500S	ENSP00000321617:A500S	A	+	1	0	ANKZF1	219808085	0.278000	0.24230	0.957000	0.39632	0.623000	0.37688	1.952000	0.40343	2.814000	0.96858	0.591000	0.81541	GCT	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt		0.607	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	protein_coding	OTTHUMT00000335790.1	G	NM_018089	-		220099841	1	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	SNP	0.930	T	T	220099841	G	T	220099841	3	4	76	1	0	0	0	0	1	0	0	0	693	1319	46	3	1532	3	ANKZF1	2	220099841	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	3134665	220099841	23099532	27	4061											
OBSL1	23363	genome.wustl.edu	37	chr2	220424007	220424007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacatacaaactcgccccCgtcctcgggctgagcagcag	9	16	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:220424007C>T	ENST00000404537.1	-	9	3222	c.3166G>A	c.(3166-3168)Ggg>Agg	p.G1056R	OBSL1_ENST00000373876.1_Missense_Mutation_p.G1056R|OBSL1_ENST00000265318.4_Missense_Mutation_p.G1056R|OBSL1_ENST00000603926.1_Missense_Mutation_p.G1056R|OBSL1_ENST00000265317.5_Missense_Mutation_p.G47R|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1056	Ig-like 8.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AACTCGCCCCCGTCCTCGGGC	0.612																																																	0								ENSG00000124006																																			OBSL1	SO:0001583	missense	0			-	HGNC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3166G>A	2.37:g.220424007C>T	ENSP00000385636:p.Gly1056Arg	Somatic	0	20	0		0.61599154991593	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	4	50.00	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1056R	ENST00000404537.1	37	c.3166	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649218	0.29336	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.41065	2.63;2.63;2.63;1.01	4.34	4.34	0.51931	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55909	0.1950	M	0.68593	2.085	0.09310	N	1	P;D;D;D	0.89917	0.937;1.0;1.0;1.0	P;D;D;D	0.97110	0.603;1.0;1.0;0.997	T	0.49943	-0.8885	9	0.41790	T	0.15	.	3.8349	0.08889	0.2368:0.6191:0.0:0.1441	.	47;1057;1056;47	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	R	1056;1056;1056;47	ENSP00000265318:G1056R;ENSP00000385636:G1056R;ENSP00000362983:G1056R;ENSP00000265317:G47R	ENSP00000265317:G47R	G	-	1	0	OBSL1	220132251	0.000000	0.05858	0.945000	0.38365	0.088000	0.18126	-0.115000	0.10741	2.256000	0.74724	0.491000	0.48974	GGG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.612	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	protein_coding	OTTHUMT00000322012.1	C		-		220424007	-1	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	SNP	0.044	T	T	220424007	C	T	220424007	3	4	76	1	0	0	0	0	1	0	0	0	10815	652	23	1	2599	1	OBSL1	2	220424007	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	324166	220424007	22775366	28	4062											
ANO7	50636	genome.wustl.edu	37	chr2	242149951	242149951	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcctcatcctctccaagatCtatgtatccctggcccacgt	5	16	3	1	rs189738174		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr2:242149951C>G	ENST00000274979.8	+	15	1792	c.1689C>G	c.(1687-1689)atC>atG	p.I563M	ANO7_ENST00000402430.3_Missense_Mutation_p.I562M	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	563					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCTCCAAGATCTATGTATCCC	0.642																																																	0								ENSG00000146205						108	91	97					2																	242149951		2203	4300	6503	ANO7	SO:0001583	missense	0			-	HGNC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1689C>G	2.37:g.242149951C>G	ENSP00000274979:p.Ile563Met	Somatic	0	20	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	Q6IWH6	Missense_Mutation	SNP							pfam_Anoctamin	p.I563M	ENST00000274979.8	37	c.1689	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721326	0.30503	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.66280	-0.2;-0.2	3.34	2.34	0.29019	.	2.468800	0.02314	U	0.072346	T	0.71558	0.3354	M	0.64170	1.965	0.30702	N	0.750212	P	0.44690	0.841	P	0.50617	0.646	T	0.61347	-0.7081	10	0.44086	T	0.13	.	10.9405	0.47270	0.0:0.8076:0.1923:0.0	.	563	Q6IWH7	ANO7_HUMAN	M	563;562	ENSP00000274979:I563M;ENSP00000385418:I562M	ENSP00000274979:I563M	I	+	3	3	ANO7	241798624	0.233000	0.23772	0.064000	0.19789	0.297000	0.27493	-0.167000	0.09940	1.576000	0.49790	0.313000	0.20887	ATC	-	pfam_Anoctamin		0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	C	NM_001001891	-		242149951	1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	SNP	0.998	G	G	242149951	C	G	242149951	3	3	76	1	0	0	0	0	1	0	0	0	702	903	32	4	1819	4	ANO7	2	242149951	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	21725944	242149951	1049422	29	4063											
SRGAP3	9901	genome.wustl.edu	37	chr3	9034675	9034675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggccttgtcatccaGcaatggcccactgctggcct	12	13	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:9034675G>T	ENST00000383836.3	-	20	2900	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.L801M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	825					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTGTCATCCAGCAATGGCCCA	0.587			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0								ENSG00000196220						80	68	72					3																	9034675		2203	4300	6503	SRGAP3	SO:0001583	missense	0			-	HGNC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2473C>A	3.37:g.9034675G>T	ENSP00000373347:p.Leu825Met	Somatic	0	38	0		0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	Q8IX13|Q8IZV8	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L825M	ENST00000383836.3	37	c.2473	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203102	0.58234	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26810	1.71;2.12	5.41	3.28	0.37604	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.38241	0.1033	L	0.40543	1.245	0.52099	D	0.999948	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.06463	-1.0825	10	0.31617	T	0.26	.	12.607	0.56529	0.1614:0.0:0.8386:0.0	.	801;825	O43295-2;O43295	.;SRGP2_HUMAN	M	825;801	ENSP00000373347:L825M;ENSP00000353587:L801M	ENSP00000353587:L801M	L	-	1	2	SRGAP3	9009675	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.160000	0.42348	1.281000	0.44480	-0.218000	0.12543	CTG	-	superfamily_SH3_domain		0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	protein_coding	OTTHUMT00000207137.3	G		-		9034675	-1	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	SNP	1.000	T	T	9034675	G	T	9034675	3	4	76	1	0	0	0	0	1	0	0	0	15154	962	34	3	838	3	SRGAP3	3	9034675	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		9034675	188987755	30	4064											
MLH1	4292	genome.wustl.edu	37	chr3	37070375	37070375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggatcattaacctcActagtgttttgagtctccag	10	8	3	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:37070375A>T	ENST00000231790.2	+	13	1726	c.1510A>T	c.(1510-1512)Act>Tct	p.T504S	MLH1_ENST00000455445.2_Missense_Mutation_p.T263S|MLH1_ENST00000435176.1_Missense_Mutation_p.T406S|MLH1_ENST00000539477.1_Missense_Mutation_p.T263S|MLH1_ENST00000458205.2_Missense_Mutation_p.T263S|MLH1_ENST00000536378.1_Missense_Mutation_p.T263S	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	504	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CATTAACCTCACTAGTGTTTT	0.493		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	1	Whole gene deletion(1)	ovary(1)						ENSG00000076242						225	227	227					3																	37070375		2203	4300	6503	MLH1	SO:0001583	missense	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	-	HGNC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1510A>T	3.37:g.37070375A>T	ENSP00000231790:p.Thr504Ser	Somatic	0	108	0		0.61599154991593	19	84.96	113	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	29	67.05	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP							pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.T504S	ENST00000231790.2	37	c.1510	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914731	0.72983	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000396438;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378;ENST00000450420;ENST00000413740	D;D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.9	5.9	0.94986	.	0.094616	0.64402	D	0.000001	D	0.93187	0.7830	M	0.62088	1.915	0.58432	D	0.999999	B;B;B;D;B;B;B	0.89917	0.419;0.283;0.419;1.0;0.283;0.263;0.007	B;B;B;D;B;B;B	0.91635	0.083;0.201;0.201;0.999;0.249;0.074;0.014	D	0.91951	0.5571	10	0.31617	T	0.26	-23.6381	16.3245	0.82970	1.0:0.0:0.0:0.0	.	406;406;263;47;263;504;504	E9PCU2;B4DQ11;B7Z821;E9PE33;B4DI13;Q53GX1;P40692	.;.;.;.;.;.;MLH1_HUMAN	S	504;368;47;47;263;263;263;406;263;45;45	ENSP00000231790:T504S;ENSP00000402667:T263S;ENSP00000443665:T263S;ENSP00000398272:T263S;ENSP00000402564:T406S;ENSP00000444286:T263S;ENSP00000393006:T45S;ENSP00000416476:T45S	ENSP00000231790:T504S	T	+	1	0	MLH1	37045379	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.856000	0.75450	2.254000	0.74563	0.460000	0.39030	ACT	-	NULL		0.493	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	protein_coding	OTTHUMT00000253337.2	A	NM_000249	-		37070375	1	no_errors	ENST00000231790	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37070375	A	T	37070375	3	4	76	1	0	0	0	0	1	0	0	0	9619	159	6	5	1560	5	MLH1	3	37070375	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	28035700	37070375	160952055	31	4065											
TLR9	54106	genome.wustl.edu	37	chr3	52255758	52255758	+	Frame_Shift_Del	DEL	C	C	-													tcatctcgcccactttgccgCccccgccagggaagccaggc							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:52255758delC	ENST00000360658.2	-	2	3207	c.2574delG	c.(2572-2574)gggfs	p.G858fs	TLR9_ENST00000494383.1_Frame_Shift_Del_p.A1013fs|TLR9_ENST00000597542.1_Frame_Shift_Del_p.G882fs	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	858					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CACTTTGCCGCCCCCGCCAGG	0.632																																																	0								ENSG00000239732						58	59	59					3																	52255758		2203	4300	6503	TLR9	SO:0001589	frameshift_variant	0				HGNC	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2574delG	3.37:g.52255758delC	ENSP00000353874:p.Gly858fs	Somatic	0	33	0		0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Frame_Shift_Del	DEL							pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.R883fs	ENST00000360658.2	37	c.2646	CCDS2848.1	3																																																																																			-	NULL		0.632	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	protein_coding	OTTHUMT00000350203.1	C				52255758	-1	no_errors	ENST00000597542	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	52255758	C	-	52255758	7	5	76	1	0	1	0	1	0	0	0	0	15965	726	26	0	528	0	TLR9	3	52255758	Frame_Shift_Del	DEL	C	TCGA-DX-A6YQ-01A-12D-A33E-09	15185383	52255758	145766672	32	4066											
PBRM1	55193	genome.wustl.edu	37	chr3	52598199	52598199	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgtcattttctggtatttCagttggcctgcaggagagga	12	6	3	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:52598199C>A	ENST00000296302.7	-	23	3743	c.3742G>T	c.(3742-3744)Gaa>Taa	p.E1248*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1248*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1248*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1263*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E1216*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1223*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1223*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1263*			Q86U86	PB1_HUMAN	polybromo 1	1248	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTGGTATTTCAGTTGGCCTG	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0								ENSG00000163939						96	95	95					3																	52598199		2203	4300	6503	PBRM1	SO:0001587	stop_gained	0			-	HGNC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3742G>T	3.37:g.52598199C>A	ENSP00000296302:p.Glu1248*	Somatic	0	57	0		0.61599154991593	47	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP							pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.E1248*	ENST00000296302.7	37	c.3742		3	.	.	.	.	.	.	.	.	.	.	C	42	9.757182	0.99256	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.4527	19.2735	0.94021	0.0:1.0:0.0:0.0	.	.	.	.	X	1216;1223;1248;1248;1248;1223;1263;1263;1247	.	ENSP00000296302:E1248X	E	-	1	0	PBRM1	52573239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.549000	0.85964	0.655000	0.94253	GAA	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	C	NM_018165	-		52598199	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	52598199	C	A	52598199	4	1	76	1	0	0	0	0	0	1	0	0	11493	835	29	3	1190	3	PBRM1	3	52598199	Nonsense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	342441	52598199	145424231	33	4067											
GNL3	26354	genome.wustl.edu	37	chr3	52724985	52724985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcaaagaagaatgctGctccattcagaagtgaagtc	11	7	1	5			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:52724985G>T	ENST00000418458.1	+	8	852	c.679G>T	c.(679-681)Gct>Tct	p.A227S	SNORD19B_ENST00000516978.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.A215S|SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000391191.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	227	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAAGAATGCTGCTCCATTCAG	0.423																																																	0								ENSG00000163938						105	108	107					3																	52724985		2203	4300	6503	GNL3	SO:0001583	missense	0			-	HGNC	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.679G>T	3.37:g.52724985G>T	ENSP00000395772:p.Ala227Ser	Somatic	0	48	0		0.61599154991593	301	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP							pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.A227S	ENST00000418458.1	37	c.679	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	1.390	-0.581125	0.03854	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.17691	2.26;2.26	6.03	2.17	0.27698	.	0.691492	0.15397	N	0.264520	T	0.07954	0.0199	N	0.21194	0.64	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40175	-0.9577	10	0.09338	T	0.73	.	1.8038	0.03076	0.2357:0.1391:0.4818:0.1434	.	227	Q9BVP2	GNL3_HUMAN	S	227;215	ENSP00000395772:A227S;ENSP00000378278:A215S	ENSP00000378278:A215S	A	+	1	0	GNL3	52700025	0.007000	0.16637	0.025000	0.17156	0.441000	0.31987	0.727000	0.25999	0.109000	0.17891	0.655000	0.94253	GCT	-	superfamily_P-loop_NTPase		0.423	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	protein_coding	OTTHUMT00000352032.1	G	NM_014366	-		52724985	1	no_errors	ENST00000418458	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52724985	G	T	52724985	3	4	76	1	0	0	0	0	1	0	0	0	6539	1319	46	3	709	3	GNL3	3	52724985	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	126786	52724985	145297445	34	4068											
ITIH3	3699	genome.wustl.edu	37	chr3	52831124	52831124	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcaccctggtcagggcCtctgggaggaagttggagaa	15	10	3	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:52831124C>A	ENST00000449956.2	+	5	396	c.390C>A	c.(388-390)gcC>gcA	p.A130A	ITIH3_ENST00000416872.2_Silent_p.A130A	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	130	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTCAGGGCCTCTGGGAGGA	0.617																																																	0								ENSG00000162267						32	36	35					3																	52831124		2076	4209	6285	ITIH3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.390C>A	3.37:g.52831124C>A		Somatic	0	41	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A130	ENST00000449956.2	37	c.390	CCDS46845.1	3																																																																																			-	pfam_VIT,smart_VIT		0.617	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	protein_coding	OTTHUMT00000352668.2	C	NM_002217	-		52831124	1	no_errors	ENST00000449956	ensembl	human	known	74_37	silent	SNP	1.000	A	A	52831124	C	A	52831124	2	1	76	1	0	0	0	0	0	0	0	1	7907	668	24	3		3	ITIH3	3	52831124	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	106139	52831124	145191306	35	4069											
ROBO1	6091	genome.wustl.edu	37	chr3	78766516	78766516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttaaattctgcactgtcatCcacagttactgccaagttac	5	11	2	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:78766516C>A	ENST00000464233.1	-	7	939	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	ROBO1_ENST00000495273.1_Missense_Mutation_p.D237Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.D237Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.D237Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	276	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCACTGTCATCCACAGTTACT	0.418																																																	0								ENSG00000169855						194	183	187					3																	78766516		1886	4113	5999	ROBO1	SO:0001583	missense	0			-	HGNC	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.826G>T	3.37:g.78766516C>A	ENSP00000420321:p.Asp276Tyr	Somatic	0	50	0		0.61599154991593	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D276Y	ENST00000464233.1	37	c.826	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729330	0.89390	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043683	0.85682	D	0.000000	T	0.77896	0.4199	L	0.45581	1.43	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.998;0.999	D;D;D;D	0.75484	0.986;0.969;0.98;0.975	T	0.74999	-0.3472	9	.	.	.	.	19.4858	0.95028	0.0:1.0:0.0:0.0	.	276;237;237;237	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	Y	237;237;276;237;237;276	ENSP00000406043:D237Y;ENSP00000420321:D276Y;ENSP00000420637:D237Y;ENSP00000417992:D237Y	.	D	-	1	0	ROBO1	78849206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.607000	0.88179	0.462000	0.41574	GAT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.418	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	protein_coding	OTTHUMT00000352610.1	C	NM_002941	-		78766516	-1	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78766516	C	A	78766516	3	1	76	1	0	0	0	0	1	0	0	0	13521	855	30	3	4242	3	ROBO1	3	78766516	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	25935392	78766516	119255914	36	4070											
ZNF80	7634	genome.wustl.edu	37	chr3	113955795	113955795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtcttcccctcacgaaCcaaagtgtctttacttggtc	8	12	3	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:113955795C>T	ENST00000482457.2	-	1	630	c.127G>A	c.(127-129)Gtt>Att	p.V43I	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	43					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCCTCACGAACCAAAGTGTCT	0.498																																					GBM(23;986 1114 21716)												0								ENSG00000174255						119	109	113					3																	113955795		2203	4300	6503	ZNF80	SO:0001583	missense	0			-	HGNC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.127G>A	3.37:g.113955795C>T	ENSP00000417192:p.Val43Ile	Somatic	0	52	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.44	Q6NSW4|Q6NT14	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V43I	ENST00000482457.2	37	c.127	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.468697	0.01053	.	.	ENSG00000174255	ENST00000482457	T	0.05717	3.4	2.45	0.25	0.15535	.	.	.	.	.	T	0.01940	0.0061	N	0.02721	-0.515	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.46275	-0.9203	9	0.02654	T	1	.	2.8499	0.05554	0.0:0.3751:0.2407:0.3841	.	43	P51504	ZNF80_HUMAN	I	43	ENSP00000417192:V43I	ENSP00000309812:V43I	V	-	1	0	ZNF80	115438485	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.022000	0.13511	0.040000	0.15660	-0.150000	0.13652	GTT	-	NULL		0.498	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	protein_coding	OTTHUMT00000354696.2	C	NM_007136	-		113955795	-1	no_errors	ENST00000308095	ensembl	human	known	74_37	missense	SNP	0.002	T	T	113955795	C	T	113955795	3	4	76	1	0	0	0	0	1	0	0	0	18175	507	18	2	698	2	ZNF80	3	113955795	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	35189279	113955795	84066635	37	4071											
DHX36	170506	genome.wustl.edu	37	chr3	154018909	154018909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgtgttctttttgttctgGaacatacctaaaataaaaac	5	7	3	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:154018909G>T	ENST00000496811.1	-	10	1305	c.1225C>A	c.(1225-1227)Cca>Aca	p.P409T	DHX36_ENST00000544526.1_Missense_Mutation_p.P409T|DHX36_ENST00000329463.5_Missense_Mutation_p.P409T|DHX36_ENST00000308361.6_Missense_Mutation_p.P409T	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	409					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.P409A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTGTTCTGGAACATACCTA	0.294																																																	1	Substitution - Missense(1)	urinary_tract(1)						ENSG00000174953						66	68	67					3																	154018909		2203	4298	6501	DHX36	SO:0001583	missense	0			-	HGNC	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1225C>A	3.37:g.154018909G>T	ENSP00000417078:p.Pro409Thr	Somatic	0	25	0		0.61599154991593	84	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P409T	ENST00000496811.1	37	c.1225	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923339	0.52653	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	M	0.74546	2.27	0.58432	D	0.999999	B;B;B	0.26002	0.064;0.139;0.038	B;B;B	0.30251	0.054;0.113;0.053	T	0.04307	-1.0961	10	0.22109	T	0.4	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	409;409;409	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	T	409;409;409;409;323	ENSP00000417078:P409T;ENSP00000309296:P409T;ENSP00000444247:P409T;ENSP00000330113:P409T;ENSP00000419862:P323T	ENSP00000309296:P409T	P	-	1	0	DHX36	155501603	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.965000	0.87945	2.788000	0.95919	0.557000	0.71058	CCA	-	superfamily_P-loop_NTPase		0.294	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	protein_coding	OTTHUMT00000353349.1	G	NM_020865	-		154018909	-1	no_errors	ENST00000496811	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154018909	G	T	154018909	3	4	76	1	0	0	0	0	1	0	0	0	4511	1174	41	3	1865	3	DHX36	3	154018909	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	40063114	154018909	44003521	38	4072											
TIPARP	25976	genome.wustl.edu	37	chr3	156396247	156396247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcacttgtatttatgGcagggattgtttgaagcacc	12	7	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr3:156396247G>T	ENST00000461166.1	+	2	1349	c.761G>T	c.(760-762)gGc>gTc	p.G254V	TIPARP_ENST00000486483.1_Missense_Mutation_p.G254V|TIPARP_ENST00000542783.1_Missense_Mutation_p.G254V|TIPARP_ENST00000295924.7_Missense_Mutation_p.G254V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	254					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGTATTTATGGCAGGGATTGT	0.443																																					Ovarian(171;276 1987 3319 6837 11197)												0								ENSG00000163659						144	150	148					3																	156396247		2203	4300	6503	TIPARP	SO:0001583	missense	0			-	HGNC	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.761G>T	3.37:g.156396247G>T	ENSP00000420612:p.Gly254Val	Somatic	0	42	0		0.61599154991593	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	11.54	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.G254V	ENST00000461166.1	37	c.761	CCDS3177.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120195	0.77323	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.33	5.33	0.75918	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.68952	2.095	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	T	0.76369	-0.2984	10	0.72032	D	0.01	.	18.6261	0.91340	0.0:0.0:1.0:0.0	.	254	Q7Z3E1	PARPT_HUMAN	V	254	ENSP00000418757:G254V;ENSP00000295924:G254V;ENSP00000420612:G254V;ENSP00000419982:G254V;ENSP00000418829:G254V;ENSP00000438345:G254V	ENSP00000295924:G254V	G	+	2	0	TIPARP	157878941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.498000	0.84270	0.563000	0.77884	GGC	-	NULL		0.443	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	protein_coding	OTTHUMT00000351618.1	G	NM_015508	-		156396247	1	no_errors	ENST00000295924	ensembl	human	known	74_37	missense	SNP	1.000	T	T	156396247	G	T	156396247	3	4	76	1	0	0	0	0	1	0	0	0	15931	1203	42	3	763	3	TIPARP	3	156396247	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	2377338	156396247	41626183	39	4073											
MTHFD2L	441024	genome.wustl.edu	37	chr4	75041117	75041117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattagttcagttaccactaCcaggtacataatgctcctct	5	11	2	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr4:75041117C>T	ENST00000395759.2	+	3	475	c.448C>T	c.(448-450)Cca>Tca	p.P150S	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.P15S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.P92S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.P92S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	150					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			GTTACCACTACCAGGTACATA	0.333																																																	0								ENSG00000163738						129	129	129					4																	75041117		2203	4300	6503	MTHFD2L	SO:0001583	missense	0			-	HGNC	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.448C>T	4.37:g.75041117C>T	ENSP00000379108:p.Pro150Ser	Somatic	0	74	0		0.61599154991593	9	18.18	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	134	21.18	Q6P079|Q8N560	Missense_Mutation	SNP							pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.P150S	ENST00000395759.2	37	c.448	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530470	0.85706	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.38560	1.13;1.55;1.22;1.23;1.62	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.989;0.999	D	0.84323	0.0517	10	0.87932	D	0	-22.9907	16.6388	0.85066	0.0:1.0:0.0:0.0	.	150;92	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	15;150;92;92;92	ENSP00000405692:P15S;ENSP00000379108:P150S;ENSP00000330982:P92S;ENSP00000352012:P92S;ENSP00000321984:P92S	ENSP00000321984:P92S	P	+	1	0	MTHFD2L	75259981	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.098000	0.76974	2.803000	0.96430	0.643000	0.83706	CCA	-	pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase		0.333	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	protein_coding		C	NM_001004346	-		75041117	1	no_errors	ENST00000395759	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75041117	C	T	75041117	3	4	76	1	0	0	0	0	1	0	0	0	9932	507	18	2	458	2	MTHFD2L	4	75041117	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		75041117	116113159	40	4074											
UCP1	7350	genome.wustl.edu	37	chr4	141489848	141489848	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagagctggacccccagGgtcgggtgtacgtccgaggc	17	11	0	2	rs555213120		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr4:141489848G>T	ENST00000262999.3	-	1	111	c.36C>A	c.(34-36)acC>acA	p.T12T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	12					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GGACCCCCAGGGTCGGGTGTA	0.622													g|||	1	0.000199681	8e-04	0	5008	,	,		15945	0		0	False		,,,				2504	0																0								ENSG00000109424						36	31	33					4																	141489848		2203	4300	6503	UCP1	SO:0001819	synonymous_variant	0			-	HGNC	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.36C>A	4.37:g.141489848G>T		Somatic	0	41	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	Q13218|Q4KMZ3|Q68G66	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.T12	ENST00000262999.3	37	c.36	CCDS3753.1	4																																																																																			-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.622	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	protein_coding	OTTHUMT00000257273.1	G		-		141489848	-1	no_errors	ENST00000262999	ensembl	human	known	74_37	silent	SNP	1.000	T	T	141489848	G	T	141489848	2	4	76	1	0	0	0	0	0	0	0	1	16937	1219	43	3		3	UCP1	4	141489848	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	66448731	141489848	49664428	41	4075											
SMARCA5	8467	genome.wustl.edu	37	chr4	144442729	144442731	+	In_Frame_Del	DEL	AAC	AAC	-													taaaaaaagatgagaagcagAacttactatccgttggcgag							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	AAC	AAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr4:144442729_144442731delAAC	ENST00000283131.3	+	3	862_864	c.400_402delAAC	c.(400-402)aacdel	p.N134del		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	134					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGAGAAGCAGAACTTACTATCCG	0.374																																																	0								ENSG00000153147																																			SMARCA5	SO:0001651	inframe_deletion	0				HGNC	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.400_402delAAC	4.37:g.144442729_144442731delAAC	ENSP00000283131:p.Asn134del	Somatic	0	85	0		0.61599154991593	121	39.5	79	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	92	29.23		In_Frame_Del	DEL							pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N134in_frame_del	ENST00000283131.3	37	c.400_402	CCDS3761.1	4																																																																																			-	superfamily_P-loop_NTPase		0.374	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	protein_coding	OTTHUMT00000365077.3	AAC				144442731	1	no_errors	ENST00000283131	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	144442731	AAC	-	144442729	7	5	76	1	0	1	0	1	0	0	0	0	14779	246	9	0	410	0	SMARCA5	4	144442729	In_Frame_Del	DEL	AAC	TCGA-DX-A6YQ-01A-12D-A33E-09	2952881	144442729	46711547	42	4076											
TKTL2	84076	genome.wustl.edu	37	chr4	164394869	164394869	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggtcttcacgtcgggcttGgcgtcgttggccatcatctc	12	13	4	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr4:164394869G>T	ENST00000280605.3	-	1	178	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	6						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGTCGGGCTTGGCGTCGTTGG	0.642																																																	0								ENSG00000151005						29	26	27					4																	164394869		2203	4300	6503	TKTL2	SO:0001819	synonymous_variant	0			-	HGNC	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.18C>A	4.37:g.164394869G>T		Somatic	0	31	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A4FVB4|Q8NCT0|Q96M82	Silent	SNP							pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.A6	ENST00000280605.3	37	c.18	CCDS3805.1	4																																																																																			-	NULL		0.642	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	G	NM_032136	-		164394869	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	silent	SNP	0.001	T	T	164394869	G	T	164394869	2	4	76	1	0	0	0	0	0	0	0	1	15943	1335	47	3		3	TKTL2	4	164394869	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	19952140	164394869	26759407	43	4077											
ADCY2	108	genome.wustl.edu	37	chr5	7626396	7626396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtaattgcatcaagtcGcggatcaagttggaatttga	10	7	2	1	rs149422716	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:7626396G>T	ENST00000338316.4	+	4	776	c.687G>T	c.(685-687)tcG>tcT	p.S229S		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	229					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCATCAAGTCGCGGATCAAGT	0.393																																																	0								ENSG00000078295						120	115	117					5																	7626396		2203	4300	6503	ADCY2	SO:0001819	synonymous_variant	0			-	HGNC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.687G>T	5.37:g.7626396G>T		Somatic	0	52	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S229	ENST00000338316.4	37	c.687	CCDS3872.2	5																																																																																			-	NULL		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	G	NM_020546	-		7626396	1	no_errors	ENST00000338316	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7626396	G	T	7626396	2	4	76	1	0	0	0	0	0	0	0	1	294	1074	38	3		3	ADCY2	5	7626396	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		7626396	173288864	44	4078											
TARS	6897	genome.wustl.edu	37	chr5	33463875	33463875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccttttggctgtcccCtcgccaggtaatggtagttc	11	12	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:33463875C>T	ENST00000265112.3	+	17	2164	c.1853C>T	c.(1852-1854)cCt>cTt	p.P618L	TARS_ENST00000502553.1_Missense_Mutation_p.P618L|TARS_ENST00000455217.2_Missense_Mutation_p.P651L|TARS_ENST00000414361.2_Missense_Mutation_p.P497L|TARS_ENST00000541634.1_Missense_Mutation_p.P514L|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	618					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGCTGTCCCCTCGCCAGGTA	0.398																																																	0								ENSG00000113407						112	97	102					5																	33463875		2203	4300	6503	TARS	SO:0001583	missense	0			-	HGNC	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1853C>T	5.37:g.33463875C>T	ENSP00000265112:p.Pro618Leu	Somatic	0	61	0		0.61599154991593	27	89.82	247	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	15	58.97	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.P618L	ENST00000265112.3	37	c.1853	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.194284	0.94960	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.75260	-0.9;-0.9;-0.92	5.86	5.86	0.93980	Anticodon-binding (2);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	H	0.99746	4.745	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.99;0.999	D;D;D;D	0.72625	0.978;0.933;0.914;0.933	D	0.95818	0.8847	10	0.87932	D	0	-8.7674	20.2019	0.98263	0.0:1.0:0.0:0.0	.	497;651;514;618	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	L	618;618;514;651;497	ENSP00000424387:P618L;ENSP00000265112:P618L;ENSP00000387710:P651L	ENSP00000265112:P618L	P	+	2	0	TARS	33499632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.568000	0.82369	2.776000	0.95493	0.655000	0.94253	CCT	-	superfamily_Anticodon-bd,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa		0.398	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	protein_coding	OTTHUMT00000207367.1	C	NM_152295	-		33463875	1	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33463875	C	T	33463875	3	4	76	1	0	0	0	0	1	0	0	0	15566	681	24	2	1919	2	TARS	5	33463875	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	25837479	33463875	147451385	45	4079											
TARS	6897	genome.wustl.edu	37	chr5	33467090	33467090	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagtataacttcattttaGgtaagaatggaaacttacca	6	7	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:33467090G>T	ENST00000265112.3	+	18	2334	c.2023G>T	c.(2023-2025)Gtt>Ttt	p.V675F	TARS_ENST00000502553.1_Splice_Site_p.V675F|TARS_ENST00000455217.2_Splice_Site_p.V708F|TARS_ENST00000414361.2_Splice_Site_p.V554F|TARS_ENST00000541634.1_Splice_Site_p.V571F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	675					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTTCATTTTAGGTAAGAATGG	0.353																																																	0								ENSG00000113407						54	52	53					5																	33467090		2203	4300	6503	TARS	SO:0001630	splice_region_variant	0			-	HGNC	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2023+1G>T	5.37:g.33467090G>T		Somatic	0	33	0		0.61599154991593	282	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.V675F	ENST00000265112.3	37	c.2023	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	g	31	5.067024	0.93898	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.47	5.47	0.80525	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.96030	0.8707	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.952;1.0;1.0;1.0	D	0.97786	1.0235	10	0.87932	D	0	-27.8794	18.9331	0.92574	0.0:0.0:1.0:0.0	.	554;708;571;675	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	F	675;675;571;708;554	ENSP00000424387:V675F;ENSP00000265112:V675F;ENSP00000438469:V571F;ENSP00000387710:V708F;ENSP00000394291:V554F	ENSP00000265112:V675F	V	+	1	0	TARS	33502847	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.808000	0.99193	2.558000	0.86282	0.655000	0.94253	GTT	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.353	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	protein_coding	OTTHUMT00000207367.1	G	NM_152295	-	Missense_Mutation	33467090	1	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33467090	G	T	33467090	5	4	76	1	0	0	0	0	0	0	1	0	15566	1014	35	3	2093	3	TARS	5	33467090	Splice_Site	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	3215	33467090	147448170	46	4080											
FSTL4	23105	genome.wustl.edu	37	chr5	132902896	132902896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcttcttgtgacttcAaagcttctgggctcctgcaa	7	13	4	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:132902896A>G	ENST00000265342.7	-	3	390	c.141T>C	c.(139-141)ttT>ttC	p.F47F		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	47						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTGACTTCAAAGCTTCTGG	0.348																																																	0								ENSG00000053108						99	102	101					5																	132902896		2203	4300	6503	FSTL4	SO:0001819	synonymous_variant	0			-	HGNC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.141T>C	5.37:g.132902896A>G		Somatic	0	56	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	58	17.14	Q8TBU0|Q9UPU1	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.F47	ENST00000265342.7	37	c.141	CCDS34238.1	5																																																																																			-	NULL		0.348	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	protein_coding	OTTHUMT00000370212.1	A	XM_048786	-		132902896	-1	no_errors	ENST00000265342	ensembl	human	known	74_37	silent	SNP	1.000	G	G	132902896	A	G	132902896	2	3	76	1	0	0	0	0	0	0	0	1	6081	127	5	5		5	FSTL4	5	132902896	Silent	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	99435806	132902896	48012364	47	4081											
PKD2L2	27039	genome.wustl.edu	37	chr5	137226243	137226243	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaattgttactctaCtttatttttttaataaacct	3	7	2	0	rs537075402		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:137226243C>A	ENST00000508883.1	+	2	131	c.105C>A	c.(103-105)taC>taA	p.Y35*	PKD2L2_ENST00000502810.1_Nonsense_Mutation_p.Y35*|RP11-381K20.2_ENST00000508281.2_RNA|PKD2L2_ENST00000290431.5_Nonsense_Mutation_p.Y35*|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000508638.1_Nonsense_Mutation_p.Y35*			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	35					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTTACTCTACTTTATTTTTT	0.289																																																	0								ENSG00000078795						75	77	76					5																	137226243		1790	4060	5850	PKD2L2	SO:0001587	stop_gained	0			-	HGNC	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.105C>A	5.37:g.137226243C>A	ENSP00000424725:p.Tyr35*	Somatic	1	103	0.95		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	122	25.61	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Nonsense_Mutation	SNP							pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.Y35*	ENST00000508883.1	37	c.105		5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515739	0.85495	.	.	ENSG00000078795	ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	.	.	.	5.8	4.0	0.46444	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8203	8.8458	0.35170	0.0:0.7685:0.0:0.2315	.	.	.	.	X	35	.	ENSP00000290431:Y35X	Y	+	3	2	PKD2L2	137254142	0.967000	0.33354	1.000000	0.80357	0.990000	0.78478	0.916000	0.28651	1.430000	0.47334	0.460000	0.39030	TAC	-	NULL		0.289	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	protein_coding	OTTHUMT00000372521.1	C	NM_014386	-		137226243	1	no_errors	ENST00000508883	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	137226243	C	A	137226243	4	1	76	1	0	0	0	0	0	1	0	0	11970	576	20	3	111	3	PKD2L2	5	137226243	Nonsense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	4323347	137226243	43689017	48	4082											
PCDHA4	56144	genome.wustl.edu	37	chr5	140187880	140187880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactgggtacagtcatcGccctgatcagcgtgtccgac	10	15	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:140187880G>A	ENST00000530339.1	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A370T|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A370T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	370	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.A370S(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)			TACAGTCATCGCCCTGATCAG	0.493																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000204967						97	94	95					5																	140187880		2203	4300	6503	PCDHA4	SO:0001583	missense	0			-	HGNC	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.1108G>A	5.37:g.140187880G>A	ENSP00000435300:p.Ala370Thr	Somatic	0	55	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	69	8.00	O75285|Q2M253	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A370T	ENST00000530339.1	37	c.1108	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	14.66	2.600395	0.46423	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52754	0.65;0.65;0.65	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.40302	U	0.001121	T	0.59810	0.2221	M	0.64567	1.98	0.29498	N	0.855113	P;D;D	0.57257	0.853;0.963;0.979	B;P;P	0.53518	0.322;0.728;0.728	T	0.61787	-0.6991	10	0.59425	D	0.04	.	18.0295	0.89278	0.0:0.0:1.0:0.0	.	370;370;370	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	370	ENSP00000423470:A370T;ENSP00000349344:A370T;ENSP00000435300:A370T	ENSP00000349344:A370T	A	+	1	0	PCDHA4	140168064	1.000000	0.71417	0.553000	0.28255	0.264000	0.26372	4.379000	0.59575	2.341000	0.79615	0.591000	0.81541	GCC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.493	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140187880	1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	SNP	0.882	A	A	140187880	G	A	140187880	3	1	76	1	0	0	0	0	1	0	0	0	11528	1087	38	1	1110	1	PCDHA4	5	140187880	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	2961637	140187880	40727380	49	4083											
ZNF300	91975	genome.wustl.edu	37	chr5	150282891	150282891	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggttgtttgagccttacAgaagtctcagcaggcaccat	10	9	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:150282891A>G	ENST00000274599.5	-	3	394				ZNF300_ENST00000427179.1_Intron|ZNF300_ENST00000394226.2_Intron|ZNF300_ENST00000446148.2_Splice_Site_p.S7S|ZNF300_ENST00000418587.2_Intron	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300						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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGCCTTACAGAAGTCTCAG	0.418																																																	0								ENSG00000145908																																			ZNF300	SO:0001627	intron_variant	0			-	HGNC	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.27-147T>C	5.37:g.150282891A>G		Somatic	0	61	0		0.61599154991593	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	94	18.97	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S7	ENST00000274599.5	37	c.21	CCDS4311.2	5																																																																																			-	NULL		0.418	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	protein_coding		A	NM_052860	-		150282891	-1	no_errors	ENST00000446148	ensembl	human	known	74_37	silent	SNP	0.001	G	G	150282891	A	G	150282891	1	3	76	0	1	0	0	0	0	0	0	0	17838	202	7	5		5	ZNF300	5	150282891	Intron	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	10095011	150282891	30632369	50	4084											
NSD1	64324	genome.wustl.edu	37	chr5	176721530	176721530	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactggcctgagacttccGccgccagacagactgctcat	9	17	1	3	rs369778799		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr5:176721530G>T	ENST00000439151.2	+	23	7206	c.7161G>T	c.(7159-7161)ccG>ccT	p.P2387P	NSD1_ENST00000361032.4_Silent_p.P2284P|NSD1_ENST00000347982.4_Silent_p.P2118P|NSD1_ENST00000354179.4_Silent_p.P2118P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2387	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		TGAGACTTCCGCCGCCAGACA	0.577			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0								ENSG00000165671						58	63	61					5																	176721530		2203	4300	6503	NSD1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	-	HGNC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7161G>T	5.37:g.176721530G>T		Somatic	0	42	0		0.61599154991593	71	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q96PD8|Q96RN7	Silent	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P2387	ENST00000439151.2	37	c.7161	CCDS4412.1	5																																																																																			-	NULL		0.577	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	G	NM_172349	-		176721530	1	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	SNP	0.000	T	T	176721530	G	T	176721530	2	4	76	1	0	0	0	0	0	0	0	1	10671	1074	38	3		3	NSD1	5	176721530	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	26438639	176721530	4193730	51	4085											
OR12D3	81797	genome.wustl.edu	37	chr6	29342525	29342525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccaattctaagagcggCttgacatcgtagaagaagtg	12	8	1	4			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:29342525C>T	ENST00000396806.3	-	1	543	c.540G>A	c.(538-540)aaG>aaA	p.K180K	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	180						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(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTAAGAGCGGCTTGACATCGT	0.448																																																	0								ENSG00000112462						93	94	94					6																	29342525		1510	2708	4218	OR12D3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.540G>A	6.37:g.29342525C>T		Somatic	0	20	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A2BDZ1|Q5SQI8|Q6IF23	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K180	ENST00000396806.3	37	c.540	CCDS4658.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	protein_coding	OTTHUMT00000076056.3	C		-		29342525	-1	no_errors	ENST00000396806	ensembl	human	known	74_37	silent	SNP	0.071	T	T	29342525	C	T	29342525	2	4	76	1	0	0	0	0	0	0	0	1	10934	796	28	2		2	OR12D3	6	29342525	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		29342525	141772542	52	4086											
C6orf129	154467	genome.wustl.edu	37	chr6	37451009	37451009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaggaggataaagatggCcacagagagcagcatgttct	13	8	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:37451009C>A	ENST00000373408.3	-	4	305	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S		NM_138493.2	NP_612502.1	Q9P0B6	CC167_HUMAN	coiled-coil domain containing 167	83						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						ATAAAGATGGCCACAGAGAGC	0.542																																																	0								ENSG00000198937						243	204	217					6																	37451009		2203	4300	6503	CCDC167	SO:0001583	missense	0			-	HGNC		CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937			21239	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 129"	C6orf129			Standard	NM_138493		Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.247G>T	6.37:g.37451009C>A	ENSP00000362507:p.Ala83Ser	Somatic	0	32	0		0.61599154991593	157	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5T7F7|Q9BTQ9	Missense_Mutation	SNP							NULL	p.A83S	ENST00000373408.3	37	c.247	CCDS34441.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.954335|3.954335	0.73902|0.73902	.|.	.|.	ENSG00000198937|ENSG00000198937	ENST00000373408|ENST00000373405;ENST00000411755	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|1.106660	.|0.06595	.|N	.|0.752702	T|T	0.66752|0.66752	0.2821|0.2821	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999967|0.999967	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.59085|0.59085	-0.7520|-0.7520	7|6	0.66056|0.51188	D|T	0.02|0.08	-7.5774|-7.5774	15.6895|15.6895	0.77439|0.77439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83|.	Q9P0B6|.	CC167_HUMAN|.	S|V	83|65	.|.	ENSP00000362507:A83S|ENSP00000362504:G65V	A|G	-|-	1|2	0|0	CCDC167|CCDC167	37558987|37558987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.983000|2.983000	0.49345|0.49345	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	GCC|GGC	-	NULL		0.542	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC167	protein_coding	OTTHUMT00000040417.1	C	NM_138493	-		37451009	-1	no_errors	ENST00000373408	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37451009	C	A	37451009	3	1	76	1	0	0	0	0	1	0	0	0	2330	739	26	3	50	3	C6orf129	6	37451009	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	8108484	37451009	133664058	53	4087											
FAM83B	222584	genome.wustl.edu	37	chr6	54805724	54805724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcagacagaaaatctaaAgaatcaacagactgagaatc	7	7	2	5			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:54805724A>G	ENST00000306858.7	+	5	2071	c.1955A>G	c.(1954-1956)aAg>aGg	p.K652R	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	652										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAATCTAAAGAATCAACAG	0.333																																																	0								ENSG00000168143						54	57	56					6																	54805724		2200	4300	6500	FAM83B	SO:0001583	missense	0			-	HGNC	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1955A>G	6.37:g.54805724A>G	ENSP00000304078:p.Lys652Arg	Somatic	0	61	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	Q2M1P3|Q96DQ2	Missense_Mutation	SNP							pfam_DUF1669	p.K652R	ENST00000306858.7	37	c.1955	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523887	0.27299	.	.	ENSG00000168143	ENST00000306858	T	0.36878	1.23	5.55	4.39	0.52855	.	0.826156	0.11030	N	0.607374	T	0.16171	0.0389	L	0.59436	1.845	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.25984	-1.0116	10	0.49607	T	0.09	-17.8201	6.6484	0.22949	0.7914:0.0:0.0721:0.1365	.	652	Q5T0W9	FA83B_HUMAN	R	652	ENSP00000304078:K652R	ENSP00000304078:K652R	K	+	2	0	FAM83B	54913683	0.993000	0.37304	0.022000	0.16811	0.965000	0.64279	3.634000	0.54302	1.050000	0.40346	0.533000	0.62120	AAG	-	NULL		0.333	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	protein_coding	OTTHUMT00000040994.1	A	XM_294139	-		54805724	1	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	SNP	0.089	G	G	54805724	A	G	54805724	3	3	76	1	0	0	0	0	1	0	0	0	5636	72	3	5	1969	5	FAM83B	6	54805724	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	17354715	54805724	116309343	54	4088											
GABRR1	2569	genome.wustl.edu	37	chr6	89907776	89907776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccatcaggctggacccGcaacatgacgttgtctgtgg	11	12	2	1	rs201013212		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:89907776G>A	ENST00000454853.2	-	5	645	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	GABRR1_ENST00000369451.3_Missense_Mutation_p.R92W|GABRR1_ENST00000435811.1_Missense_Mutation_p.R162W	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	179					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)			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)	GGCTGGACCCGCAACATGACG	0.483																																																	0								ENSG00000146276						198	172	181					6																	89907776		2203	4300	6503	GABRR1	SO:0001583	missense	0			-	HGNC		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.535C>T	6.37:g.89907776G>A	ENSP00000412673:p.Arg179Trp	Somatic	0	65	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	31	67.37	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.R179W	ENST00000454853.2	37	c.535	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072444	0.76415	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.79247	-1.25;-1.25;-1.25	5.83	4.94	0.65067	Neurotransmitter-gated ion-channel ligand-binding (3);	0.079850	0.64402	D	0.000002	D	0.83848	0.5343	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.84811	0.0790	9	.	.	.	-26.7525	16.0638	0.80859	0.0:0.0:0.8649:0.1351	.	162;179	P24046-2;P24046	.;GBRR1_HUMAN	W	179;162;92;92	ENSP00000412673:R179W;ENSP00000394687:R162W;ENSP00000358463:R92W	.	R	-	1	2	GABRR1	89964495	1.000000	0.71417	0.992000	0.48379	0.722000	0.41435	3.490000	0.53245	1.405000	0.46838	0.561000	0.74099	CGG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.483	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	G		rs201013212		89907776	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89907776	G	A	89907776	3	1	76	1	0	0	0	0	1	0	0	0	6178	1086	38	1	928	1	GABRR1	6	89907776	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	35102052	89907776	81207291	55	4089											
RNASET2	8635	genome.wustl.edu	37	chr6	167369655	167369655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcagggccccgcgcaGggctgcagggcgcatggtgc	18	15	0	0	rs11557915	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:167369655G>T	ENST00000508775.1	-	1	535	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	RNASET2_ENST00000366855.6_De_novo_Start_OutOfFrame|RNASET2_ENST00000476238.2_Missense_Mutation_p.L6M|RP11-514O12.4_ENST00000507747.1_5'Flank	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	6					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GCCCCGCGCAGGGCTGCAGGG	0.687																																																	0								ENSG00000026297						9	9	9					6																	167369655		1980	3815	5795	RNASET2	SO:0001583	missense	0			-	HGNC	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.16C>A	6.37:g.167369655G>T	ENSP00000426455:p.Leu6Met	Somatic	0	39	0		0.61599154991593	122	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP							pfam_RNase_T2-like,superfamily_RNase_T2-like	p.L6M	ENST00000508775.1	37	c.16	CCDS5295.1	6	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739892	0.30865	.	.	ENSG00000026297	ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180;ENST00000310843;ENST00000425007	T;T;T	0.65364	-0.15;-0.15;-0.15	2.81	-5.07	0.02938	.	7.083910	0.00906	U	0.002418	T	0.16514	0.0397	N	0.14661	0.345	0.09310	N	1	B	0.31227	0.314	B	0.17979	0.02	T	0.03060	-1.1077	9	.	.	.	-8.0963	8.1328	0.31037	0.0:0.5807:0.262:0.1573	.	6	O00584	RNT2_HUMAN	M	6	ENSP00000426455:L6M;ENSP00000422846:L6M;ENSP00000426059:L6M	.	L	-	1	2	RNASET2	167289645	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.058000	0.03482	-1.220000	0.02594	0.313000	0.20887	CTG	-	NULL		0.687	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASET2	protein_coding	OTTHUMT00000043089.2	G	NM_003730	-		167369655	-1	no_errors	ENST00000476238	ensembl	human	known	74_37	missense	SNP	0.000	T	T	167369655	G	T	167369655	3	4	76	1	0	0	0	0	1	0	0	0	13426	991	35	3	790	3	RNASET2	6	167369655	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	77461879	167369655	3745412	56	4090											
FRMD1	79981	genome.wustl.edu	37	chr6	168465633	168465633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcccaggtcagcctgcagcGcgcaggcagccagcaggaag	15	15	1	0	rs568201228	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:168465633G>T	ENST00000283309.6	-	5	630	c.566C>A	c.(565-567)gCg>gAg	p.A189E	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.A121E|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	189	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCCTGCAGCGCGCAGGCAGC	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0								ENSG00000153303						55	47	50					6																	168465633		2203	4300	6503	FRMD1	SO:0001583	missense	0			-	HGNC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.566C>A	6.37:g.168465633G>T	ENSP00000283309:p.Ala189Glu	Somatic	0	24	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.A189E	ENST00000283309.6	37	c.566	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019447	0.35606	.	.	ENSG00000153303	ENST00000283309;ENST00000440994	T;T	0.79141	-1.24;-1.24	2.75	1.85	0.25348	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.501681	0.17573	U	0.169414	T	0.82107	0.4965	M	0.77406	2.37	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.993;0.994;0.981	T	0.82546	-0.0403	10	0.87932	D	0	.	10.465	0.44602	0.0:0.5921:0.4079:0.0	.	101;189;121	B7Z8G9;Q8N878;Q8N878-2	.;FRMD1_HUMAN;.	E	189;121	ENSP00000283309:A189E;ENSP00000414115:A121E	ENSP00000283309:A189E	A	-	2	0	FRMD1	168208482	0.632000	0.27172	0.194000	0.23346	0.015000	0.08874	1.398000	0.34554	0.333000	0.23563	0.313000	0.20887	GCG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	protein_coding	OTTHUMT00000362513.2	G	NM_024919	-		168465633	-1	no_errors	ENST00000283309	ensembl	human	known	74_37	missense	SNP	0.996	T	T	168465633	G	T	168465633	3	4	76	1	0	0	0	0	1	0	0	0	6051	1087	38	3	1111	3	FRMD1	6	168465633	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1095978	168465633	2649434	57	4091											
TBP	6908	genome.wustl.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	10	12	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000230354.6_Silent_p.Q60Q|TBP_ENST00000540980.1_Silent_p.Q40Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|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 I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																	0								ENSG00000112592						43	45	44					6																	170871004		2203	4300	6503	TBP	SO:0001819	synonymous_variant	0			-	HGNC	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	6.37:g.170871004G>A		Somatic	0	43	0		0.61599154991593	56	3.45	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP							pfam_TBP,prints_TBP	p.Q60	ENST00000392092.2	37	c.180	CCDS5315.1	6																																																																																			-	NULL		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	protein_coding	OTTHUMT00000043271.2	G	NM_003194	-		170871004	1	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	SNP	0.991	A	A	170871004	G	A	170871004	2	1	76	1	0	0	0	0	0	0	0	1	15651	962	34	2		2	TBP	6	170871004	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	2405371	170871004	244063	58	4092											
NSUN5	55695	genome.wustl.edu	37	chr7	72717521	72717521	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctttggcctgtgagGctgagctagagaagtgtaga	15	6	0	5			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:72717521G>A	ENST00000252594.6	-	0	1377				NSUN5_ENST00000428206.1_3'UTR|NSUN5_ENST00000438747.2_Missense_Mutation_p.A431V|NSUN5_ENST00000310326.8_Splice_Site_p.S429S			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5						rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GGCCTGTGAGGCTGAGCTAGA	0.587																																																	0								ENSG00000130305						122	107	112					7																	72717521		2203	4300	6503	NSUN5	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.*72C>T	7.37:g.72717521G>A		Somatic	0	90	0		0.61599154991593	103	22.56	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	77	14.44	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP							pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.A431V	ENST00000252594.6	37	c.1292	CCDS5547.1	7	.	.	.	.	.	.	.	.	.	.	.	10.24	1.295606	0.23564	.	.	ENSG00000130305	ENST00000438747	T	0.12147	2.71	4.28	-2.69	0.06022	.	1.499030	0.03680	N	0.245433	T	0.08044	0.0201	.	.	.	0.23542	N	0.997452	B	0.02656	0.0	B	0.08055	0.003	T	0.34179	-0.9839	9	0.27082	T	0.32	.	5.5804	0.17247	0.1586:0.2598:0.5816:0.0	.	431	Q96P11-2	.	V	431	ENSP00000388464:A431V	ENSP00000388464:A431V	A	-	2	0	NSUN5	72355457	0.000000	0.05858	0.008000	0.14137	0.320000	0.28249	-0.249000	0.08842	-0.323000	0.08602	0.289000	0.19496	GCC	-	NULL		0.587	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	protein_coding	OTTHUMT00000252113.1	G	NM_148956	-		72717521	-1	no_errors	ENST00000438747	ensembl	human	known	74_37	missense	SNP	0.027	A	A	72717521	G	A	72717521	1	1	76	0	1	0	0	0	0	0	0	0	10683	1217	42	2		2	NSUN5	7	72717521	3'UTR	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		72717521	86421142	59	4093											
CALCR	799	genome.wustl.edu	37	chr7	93106949	93106949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgtcatcccagcacagCcatccatcccaggtgcgatt	10	14	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:93106949C>A	ENST00000394441.1	-	4	552	c.237G>T	c.(235-237)tgG>tgT	p.W79C	CALCR_ENST00000359558.2_Missense_Mutation_p.W97C|CALCR_ENST00000426151.1_Missense_Mutation_p.W79C|CALCR_ENST00000360249.4_Missense_Mutation_p.W79C|CALCR_ENST00000421592.1_Missense_Mutation_p.W79C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	97					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CCCAGCACAGCCATCCATCCC	0.423																																																	0								ENSG00000004948						93	78	83					7																	93106949		2203	4300	6503	CALCR	SO:0001583	missense	0			-	HGNC	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.237G>T	7.37:g.93106949C>A	ENSP00000377959:p.Trp79Cys	Somatic	0	34	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.W97C	ENST00000394441.1	37	c.291	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927608	0.73327	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.06	4.06	0.47325	.	.	.	.	.	D	0.84275	0.5436	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88882	0.3340	9	0.72032	D	0.01	.	16.1994	0.82060	0.0:1.0:0.0:0.0	.	97;79	F5H605;A4D1G6	.;.	C	97;79;79;79;79;79	ENSP00000352561:W97C;ENSP00000353385:W79C;ENSP00000399552:W79C;ENSP00000377959:W79C;ENSP00000389295:W79C	ENSP00000352561:W97C	W	-	3	0	CALCR	92944885	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	7.123000	0.77176	2.544000	0.85801	0.557000	0.71058	TGG	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.423	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	C	NM_001742	-		93106949	-1	no_errors	ENST00000359558	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93106949	C	A	93106949	3	1	76	1	0	0	0	0	1	0	0	0	2581	740	26	3	1279	3	CALCR	7	93106949	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	20389428	93106949	66031714	60	4094											
LMTK2	22853	genome.wustl.edu	37	chr7	97823854	97823854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaggcagtcacgtttttCgatgatgtcacagtctacct	9	9	3	2	rs560743982		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:97823854C>T	ENST00000297293.5	+	11	4370	c.4077C>T	c.(4075-4077)ttC>ttT	p.F1359F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1359					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCACGTTTTTCGATGATGTCA	0.483																																																	0								ENSG00000164715						94	77	83					7																	97823854		2203	4300	6503	LMTK2	SO:0001819	synonymous_variant	0			-	HGNC	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4077C>T	7.37:g.97823854C>T		Somatic	0	34	0		0.61599154991593	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	36	42.19	A4D272|Q75MG7|Q9UPS3	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F1359	ENST00000297293.5	37	c.4077	CCDS5654.1	7																																																																																			-	NULL		0.483	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	protein_coding	OTTHUMT00000334560.1	C	NM_014916	-		97823854	1	no_errors	ENST00000297293	ensembl	human	known	74_37	silent	SNP	0.635	T	T	97823854	C	T	97823854	2	4	76	1	0	0	0	0	0	0	0	1	8861	883	31	1		1	LMTK2	7	97823854	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	4716905	97823854	61314809	61	4095											
SRPK2	6733	genome.wustl.edu	37	chr7	104758460	104758460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttcagcttggtgatgtgtCgcagttctcctacaggggaa	13	9	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:104758460C>T	ENST00000393651.3	-	16	2012	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	SRPK2_ENST00000489828.1_Missense_Mutation_p.R631Q|SRPK2_ENST00000357311.3_Missense_Mutation_p.R631Q|SRPK2_ENST00000493638.1_5'Flank	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGTGATGTGTCGCAGTTCTCC	0.483																																																	0								ENSG00000135250						70	60	64					7																	104758460		2203	4300	6503	SRPK2	SO:0001583	missense	0			-	HGNC	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1925G>A	7.37:g.104758460C>T	ENSP00000377262:p.Arg642Gln	Somatic	0	28	0		0.61599154991593	85	50.87	88	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R642Q	ENST00000393651.3	37	c.1925	CCDS34724.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.258986|4.258986	0.80246|0.80246	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000474770|ENST00000393651;ENST00000357311;ENST00000489828	.|T;T;T	.|0.20332	.|2.08;2.08;2.08	5.76|5.76	5.76|5.76	0.90799|0.90799	.|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|T	0.38983|0.38983	0.1061|0.1061	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|P;P	.|0.59012	.|0.85;0.8	T|T	0.02320|0.02320	-1.1177|-1.1177	5|10	.|0.59425	.|D	.|0.04	-19.5337|-19.5337	20.3242|20.3242	0.98691|0.98691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|642;631	.|P78362-2;P78362	.|.;SRPK2_HUMAN	N|Q	147|642;631;631	.|ENSP00000377262:R642Q;ENSP00000349863:R631Q;ENSP00000419791:R631Q	.|ENSP00000349863:R631Q	D|R	-|-	1|2	0|0	SRPK2|SRPK2	104545696|104545696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	6.030000|6.030000	0.70903|0.70903	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|CGA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.483	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	protein_coding	OTTHUMT00000348723.1	C	NM_182691	-		104758460	-1	no_errors	ENST00000393651	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104758460	C	T	104758460	3	4	76	1	0	0	0	0	1	0	0	0	15167	884	31	1	178	1	SRPK2	7	104758460	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	6934606	104758460	54380203	62	4096											
DOCK4	9732	genome.wustl.edu	37	chr7	111617310	111617310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgctggcctgcaccgggGtgtctttcttccgatgtcga	13	12	2	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:111617310G>A	ENST00000437633.1	-	8	834	c.578C>T	c.(577-579)aCc>aTc	p.T193I	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.T193I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	193					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGCACCGGGGTGTCTTTCTT	0.498																																																	0								ENSG00000128512						65	66	65					7																	111617310		1969	4164	6133	DOCK4	SO:0001583	missense	0			-	HGNC		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.578C>T	7.37:g.111617310G>A	ENSP00000404179:p.Thr193Ile	Somatic	0	56	0		0.61599154991593	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	48	52.48	O14584|O94824|Q8NB45	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.T193I	ENST00000437633.1	37	c.578	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.378671|3.378671	0.61735|0.61735	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.03301	.|3.98;3.98	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.07728|0.07728	0.0194|0.0194	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.26845	.|0.161;0.161;0.161;0.161	.|B;B;B;B	.|0.29598	.|0.067;0.104;0.104;0.104	T|T	0.16482|0.16482	-1.0401|-1.0401	5|10	.|0.46703	.|T	.|0.11	.|.	19.2437|19.2437	0.93893|0.93893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|193;193;193;193	.|A4D0S8;Q149N6;Q149N5;Q8N1I0	.|.;.;.;DOCK4_HUMAN	S|I	181|181;193;193;181;192	.|ENSP00000410746:T193I;ENSP00000404179:T193I	.|ENSP00000345432:T181I	P|T	-|-	1|2	0|0	DOCK4|DOCK4	111404546|111404546	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.862000|0.862000	0.49288|0.49288	7.581000|7.581000	0.82535|0.82535	2.527000|2.527000	0.85204|0.85204	0.563000|0.563000	0.77884|0.77884	CCC|ACC	-	NULL		0.498	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	protein_coding	OTTHUMT00000338369.4	G	NM_014705	-		111617310	-1	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111617310	G	A	111617310	3	1	76	1	0	0	0	0	1	0	0	0	4691	1261	44	2	5502	2	DOCK4	7	111617310	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	6858850	111617310	47521353	63	4097											
MET	4233	genome.wustl.edu	37	chr7	116340033	116340033	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgcctctggagtgtAttctcacagaaaagagaaaa	10	6	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:116340033A>T	ENST00000318493.6	+	2	1082	c.895A>T	c.(895-897)Att>Ttt	p.I299F	MET_ENST00000436117.2_Missense_Mutation_p.I299F|MET_ENST00000397752.3_Missense_Mutation_p.I299F			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTGGAGTGTATTCTCACAGA	0.423			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0								ENSG00000105976						76	72	73					7																	116340033		1840	4092	5932	MET	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	-	HGNC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.895A>T	7.37:g.116340033A>T	ENSP00000317272:p.Ile299Phe	Somatic	0	31	0		0.61599154991593	100	21.26	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP							pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.I299F	ENST00000318493.6	37	c.895	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285649	0.40394	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11063	2.81;2.81;2.81	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.047093	0.85682	D	0.000000	T	0.39145	0.1067	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;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	0.952;1.0;0.995;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;0.999	T	0.21449	-1.0245	10	0.48119	T	0.1	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	299;299;299;299;299;299;299;299;299;299;299;299;299	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	F	299	ENSP00000380860:I299F;ENSP00000317272:I299F;ENSP00000410980:I299F	ENSP00000317272:I299F	I	+	1	0	MET	116127269	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	6.976000	0.76135	2.371000	0.80710	0.533000	0.62120	ATT	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.423	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	protein_coding	OTTHUMT00000059620.3	A		-		116340033	1	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116340033	A	T	116340033	3	4	76	1	0	0	0	0	1	0	0	0	9487	449	16	5	897	5	MET	7	116340033	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	4722723	116340033	42798630	64	4098											
FAM40B	57464	genome.wustl.edu	37	chr7	129103922	129103922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgctggctgcagctcccaCctctaaggctaagacagact	9	14	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:129103922C>A	ENST00000249344.2	+	15	1629	c.1589C>A	c.(1588-1590)aCc>aAc	p.T530N	STRIP2_ENST00000435494.2_Missense_Mutation_p.T530N	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	530					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GCAGCTCCCACCTCTAAGGCT	0.478																																																	0								ENSG00000128578						113	100	104					7																	129103922		2203	4300	6503	STRIP2	SO:0001583	missense	0			-	HGNC	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.1589C>A	7.37:g.129103922C>A	ENSP00000249344:p.Thr530Asn	Somatic	0	30	0		0.61599154991593	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8WUZ4	Missense_Mutation	SNP							pfam_DUF3402,pfam_N1221	p.T530N	ENST00000249344.2	37	c.1589	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864004	0.91511	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.51325	0.72;0.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.996	T	0.70963	-0.4729	10	0.38643	T	0.18	-25.8567	18.5982	0.91236	0.0:1.0:0.0:0.0	.	530;530	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	N	530	ENSP00000249344:T530N;ENSP00000392393:T530N	ENSP00000249344:T530N	T	+	2	0	FAM40B	128891158	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.767000	0.85331	2.746000	0.94184	0.643000	0.83706	ACC	-	pfam_DUF3402		0.478	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP2	protein_coding	OTTHUMT00000349418.1	C	NM_001134336	-		129103922	1	no_errors	ENST00000249344	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129103922	C	A	129103922	3	1	76	1	0	0	0	0	1	0	0	0	5563	507	18	3	1647	3	FAM40B	7	129103922	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	12763889	129103922	30034741	65	4099											
PRSS1	5644	genome.wustl.edu	37	chr7	142459862	142459862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctctggctggggcaaCactgcgagctctggcggtga	14	12	3	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:142459862C>T	ENST00000311737.7	+	3	444	c.438C>T	c.(436-438)aaC>aaT	p.N146N	PRSS1_ENST00000486171.1_Silent_p.N160N	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCTGGGGCAACACTGCGAGCT	0.572																																																	0								ENSG00000204983						70	71	71					7																	142459862		2203	4300	6503	PRSS1	SO:0001819	synonymous_variant	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.438C>T	7.37:g.142459862C>T		Somatic	0	31	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	21	56.25	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N146	ENST00000311737.7	37	c.438	CCDS5872.1	7																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	C		-		142459862	1	no_errors	ENST00000311737	ensembl	human	known	74_37	silent	SNP	1.000	T	T	142459862	C	T	142459862	2	4	76	1	0	0	0	0	0	0	0	1	12619	477	17	2		2	PRSS1	7	142459862	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	13355940	142459862	16678801	66	4100											
UBE3C	9690	genome.wustl.edu	37	chr7	157041079	157041079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggctctctatgagaacatGctggtggagctgccctttgc	12	10	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr7:157041079G>T	ENST00000348165.5	+	19	2859	c.2499G>T	c.(2497-2499)atG>atT	p.M833I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	833	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATGAGAACATGCTGGTGGAGC	0.473																																																	0								ENSG00000009335						96	96	96					7																	157041079		2203	4300	6503	UBE3C	SO:0001583	missense	0			-	HGNC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2499G>T	7.37:g.157041079G>T	ENSP00000309198:p.Met833Ile	Somatic	0	42	0		0.61599154991593	86	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.M833I	ENST00000348165.5	37	c.2499	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032931	0.54790	.	.	ENSG00000009335	ENST00000348165	T	0.53206	0.63	5.74	5.74	0.90152	HECT (4);	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	N	0.00566	-1.37	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.008;0.013	T	0.41161	-0.9524	10	0.02654	T	1	-43.8002	19.9122	0.97029	0.0:0.0:1.0:0.0	.	833;686	Q15386;B4DHJ9	UBE3C_HUMAN;.	I	833	ENSP00000309198:M833I	ENSP00000309198:M833I	M	+	3	0	UBE3C	156733840	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	9.502000	0.97981	2.702000	0.92279	0.655000	0.94253	ATG	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.473	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	protein_coding	OTTHUMT00000348108.1	G	NM_014671	-		157041079	1	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	SNP	1.000	T	T	157041079	G	T	157041079	3	4	76	1	0	0	0	0	1	0	0	0	16888	1319	46	3	2573	3	UBE3C	7	157041079	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	14581217	157041079	2097584	67	4101											
MYOM2	9172	genome.wustl.edu	37	chr8	2024315	2024315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgtgacctggaagccGcccaacaccaccactgagag	10	15	1	2	rs563008335		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:2024315G>A	ENST00000262113.4	+	11	1356	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAAGCCGCCCAACACCA	0.622													G|||	1	0.000199681	0	0	5008	,	,		14476	0.001		0	False		,,,				2504	0																0								ENSG00000036448						50	47	48					8																	2024315		2203	4300	6503	MYOM2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1215G>A	8.37:g.2024315G>A		Somatic	0	71	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	79	28.18	Q7Z3Y2	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P405	ENST00000262113.4	37	c.1215	CCDS5957.1	8																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.622	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	G	NM_003970	-		2024315	1	no_errors	ENST00000262113	ensembl	human	known	74_37	silent	SNP	0.015	A	A	2024315	G	A	2024315	2	1	76	1	0	0	0	0	0	0	0	1	10094	1074	38	1		1	MYOM2	8	2024315	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		2024315	144339707	68	4102											
SGK223	157285	genome.wustl.edu	37	chr8	8234395	8234395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctcttcacctacctcGgagttctggctcacaggccc	8	17	5	0	rs200101338		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:8234395G>A	ENST00000520004.1	-	3	1788	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	SGK223_ENST00000330777.4_Silent_p.S508S			Q86YV5	SG223_HUMAN		510							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CACCTACCTCGGAGTTCTGGC	0.652																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319	G		2,4184		0,2,2091	21	24	23		1524	-7.4	0	8		23	4,8426		0,4,4211	no	coding-synonymous	SGK223	NM_001080826.1		0,6,6302	AA,AG,GG		0.0474,0.0478,0.0476		508/1403	8234395	6,12610	2093	4215	6308	SGK223	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000520004.1:c.1524C>T	8.37:g.8234395G>A		Somatic	0	55	0		0.61599154991593	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	Q8N3N5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.S508	ENST00000520004.1	37	c.1524	CCDS43706.1	8																																																																																			-	NULL		0.652	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	G		rs200101338		8234395	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	silent	SNP	0.001	A	A	8234395	G	A	8234395	2	1	76	1	0	0	0	0	0	0	0	1	14218	1103	39	1		1	SGK223	8	8234395	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	6210080	8234395	138129627	69	4103											
USP17L2	377630	genome.wustl.edu	37	chr8	11995398	11995398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatattgcacattcttggcaAgtttgttgcctgtgacatcg	10	8	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:11995398A>G	ENST00000333796.3	-	1	1188	c.872T>C	c.(871-873)cTt>cCt	p.L291P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	291	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ATTCTTGGCAAGTTTGTTGCC	0.502																																																	0								ENSG00000223443						22	26	25					8																	11995398		1355	3008	4363	USP17L2	SO:0001583	missense	0			-	HGNC	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.872T>C	8.37:g.11995398A>G	ENSP00000333329:p.Leu291Pro	Somatic	0	98	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	83	25.89		Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.L291P	ENST00000333796.3	37	c.872	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	A	9.055	0.993040	0.19043	.	.	ENSG00000223443	ENST00000333796	T	0.07216	3.21	0.745	0.745	0.18359	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.555420	0.14724	N	0.302170	T	0.23133	0.0559	M	0.86805	2.84	0.21355	N	0.999716	P	0.39748	0.686	P	0.55455	0.776	T	0.09143	-1.0688	10	0.87932	D	0	.	3.6197	0.08090	0.5857:0.4142:0.0:1.0E-4	.	291	Q6R6M4	U17L2_HUMAN	P	291	ENSP00000333329:L291P	ENSP00000333329:L291P	L	-	2	0	USP17L2	12032807	0.009000	0.17119	0.002000	0.10522	0.003000	0.03518	1.678000	0.37586	0.611000	0.30052	0.386000	0.25728	CTT	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.502	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	protein_coding	OTTHUMT00000383303.2	A	NM_201402	-		11995398	-1	no_errors	ENST00000333796	ensembl	human	known	74_37	missense	SNP	0.001	G	G	11995398	A	G	11995398	3	3	76	1	0	0	0	0	1	0	0	0	17055	72	3	5	724	5	USP17L2	8	11995398	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	3761003	11995398	134368624	70	4104											
DLC1	10395	genome.wustl.edu	37	chr8	12952388	12952388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactgtccttcgtagttgaCacagtctatggcaccttcat	8	11	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:12952388C>A	ENST00000276297.4	-	12	3815	c.3406G>T	c.(3406-3408)Gtc>Ttc	p.V1136F	DLC1_ENST00000512044.2_Missense_Mutation_p.V733F|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.V625F|DLC1_ENST00000358919.2_Missense_Mutation_p.V699F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1136	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						TCGTAGTTGACACAGTCTATG	0.498																																																	0								ENSG00000164741						82	78	79					8																	12952388		2203	4300	6503	DLC1	SO:0001583	missense	0			-	HGNC	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.3406G>T	8.37:g.12952388C>A	ENSP00000276297:p.Val1136Phe	Somatic	0	50	0		0.61599154991593	166	0.6	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.V1136F	ENST00000276297.4	37	c.3406	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626096	0.66901	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.97	4.1	0.47936	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.194223	0.44688	D	0.000435	T	0.38188	0.1031	L	0.57536	1.79	0.80722	D	1	B;D;P	0.71674	0.325;0.998;0.508	B;D;B	0.72982	0.153;0.979;0.099	T	0.16837	-1.0389	10	0.87932	D	0	.	8.732	0.34505	0.1497:0.7741:0.0:0.0762	.	1136;733;699	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	1136;699;75;733;625	ENSP00000276297:V1136F;ENSP00000351797:V699F;ENSP00000422595:V733F;ENSP00000428028:V625F	ENSP00000276297:V1136F	V	-	1	0	DLC1	12996759	0.992000	0.36948	0.954000	0.39281	0.967000	0.64934	2.999000	0.49473	1.466000	0.48025	0.650000	0.86243	GTC	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.498	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094	-		12952388	-1	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12952388	C	A	12952388	3	1	76	1	0	0	0	0	1	0	0	0	4552	478	17	3	1208	3	DLC1	8	12952388	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	956990	12952388	133411634	71	4105											
STC1	6781	genome.wustl.edu	37	chr8	23702549	23702549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttcggacaagtctgttatAgtatctgcatcaagaaagag	10	7	3	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:23702549A>T	ENST00000290271.2	-	4	761	c.478T>A	c.(478-480)Tat>Aat	p.Y160N	STC1_ENST00000524323.1_Missense_Mutation_p.Y91N	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	160					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGTCTGTTATAGTATCTGCAT	0.522																																																	0								ENSG00000159167						103	96	98					8																	23702549		2203	4300	6503	STC1	SO:0001583	missense	0			-	HGNC		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.478T>A	8.37:g.23702549A>T	ENSP00000290271:p.Tyr160Asn	Somatic	0	31	0		0.61599154991593	117	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	B4DN22|Q71UE5	Missense_Mutation	SNP							pfam_Stanniocalcin	p.Y160N	ENST00000290271.2	37	c.478	CCDS6043.1	8	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747530	0.89663	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.79933	-0.1594	9	0.87932	D	0	-9.0847	15.6301	0.76899	1.0:0.0:0.0:0.0	.	160	P52823	STC1_HUMAN	N	160;91;91	.	ENSP00000290271:Y160N	Y	-	1	0	STC1	23758494	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.790000	0.91844	2.367000	0.80283	0.528000	0.53228	TAT	-	pfam_Stanniocalcin		0.522	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC1	protein_coding	OTTHUMT00000215143.1	A		-		23702549	-1	no_errors	ENST00000290271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23702549	A	T	23702549	3	4	76	1	0	0	0	0	1	0	0	0	15282	420	15	5	269	5	STC1	8	23702549	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	10750161	23702549	122661473	72	4106											
TGS1	96764	genome.wustl.edu	37	chr8	56698829	56698829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagaaataaagttaaaatAaaaaagaaaaaacatcaaaa	3	3	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:56698829A>G	ENST00000260129.5	+	4	849	c.372A>G	c.(370-372)atA>atG	p.I124M		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	124					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAGTTAAAATAAAAAAGAAAA	0.259																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0								ENSG00000137574						14	14	14					8																	56698829		2141	4265	6406	TGS1	SO:0001583	missense	0			-	HGNC	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.372A>G	8.37:g.56698829A>G	ENSP00000260129:p.Ile124Met	Somatic	0	36	0		0.61599154991593	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP							pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.I124M	ENST00000260129.5	37	c.372	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	A	9.682	1.149508	0.21288	.	.	ENSG00000137574	ENST00000260129	T	0.17370	2.28	5.36	-6.02	0.02192	.	1.088660	0.07112	N	0.842302	T	0.09024	0.0223	L	0.35723	1.085	0.09310	N	1	B;P	0.45283	0.07;0.855	B;B	0.39027	0.01;0.288	T	0.22417	-1.0217	10	0.46703	T	0.11	0.0087	0.0728	0.00024	0.2689:0.1931:0.2305:0.3075	.	124;124	B2RBJ7;Q96RS0	.;TGS1_HUMAN	M	124	ENSP00000260129:I124M	ENSP00000260129:I124M	I	+	3	3	TGS1	56861383	0.000000	0.05858	0.052000	0.19188	0.532000	0.34746	-1.654000	0.01984	-0.598000	0.05806	-0.258000	0.10820	ATA	-	NULL		0.259	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	protein_coding	OTTHUMT00000378152.1	A	NM_024831	-		56698829	1	no_errors	ENST00000260129	ensembl	human	known	74_37	missense	SNP	0.006	G	G	56698829	A	G	56698829	3	3	76	1	0	0	0	0	1	0	0	0	15844	352	13	5	386	5	TGS1	8	56698829	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	32996280	56698829	89665193	73	4107											
ASPH	444	genome.wustl.edu	37	chr8	62438653	62438653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatctcggattaactTccagtttctttctaaagact	5	11	4	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:62438653T>C	ENST00000379454.4	-	22	1970	c.1783A>G	c.(1783-1785)Aag>Gag	p.K595E	ASPH_ENST00000541428.1_Missense_Mutation_p.K566E	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	595					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGATTAACTTCCAGTTTCTT	0.453																																																	0								ENSG00000198363						83	82	82					8																	62438653		2203	4300	6503	ASPH	SO:0001583	missense	0			-	HGNC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1783A>G	8.37:g.62438653T>C	ENSP00000368767:p.Lys595Glu	Somatic	0	46	0		0.61599154991593	184	27.17	69	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K595E	ENST00000379454.4	37	c.1783	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718042	0.48622	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.42513	0.97;0.97	5.68	5.68	0.88126	.	0.054845	0.64402	D	0.000001	T	0.28001	0.0690	N	0.12637	0.245	0.80722	D	1	B;B	0.30763	0.081;0.294	B;B	0.31495	0.017;0.131	T	0.10132	-1.0643	10	0.25106	T	0.35	-24.1086	15.9351	0.79698	0.0:0.0:0.0:1.0	.	566;595	F5H667;Q12797	.;ASPH_HUMAN	E	566;595	ENSP00000437864:K566E;ENSP00000368767:K595E	ENSP00000368767:K595E	K	-	1	0	ASPH	62601207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.647000	0.67923	2.159000	0.67721	0.528000	0.53228	AAG	-	pfam_Asp_Arg_b-Hydrxlase		0.453	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	protein_coding	OTTHUMT00000378510.3	T	NM_004318	-		62438653	-1	no_errors	ENST00000379454	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62438653	T	C	62438653	3	2	76	1	0	0	0	0	1	0	0	0	1053	1792	62	5	509	5	ASPH	8	62438653	Missense_Mutation	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	5739824	62438653	83925369	74	4108											
HSF1	3297	genome.wustl.edu	37	chr8	145533178	145533178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacatcgagcagggcggCctggtcaagccagagagaga	15	11	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:145533178C>T	ENST00000528838.1	+	3	424	c.264C>T	c.(262-264)ggC>ggT	p.G88G	HSF1_ENST00000400780.4_Silent_p.G23G	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	88					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			AGCAGGGCGGCCTGGTCAAGC	0.607																																																	0								ENSG00000185122						118	118	118					8																	145533178		2203	4296	6499	HSF1	SO:0001819	synonymous_variant	0			-	HGNC	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.264C>T	8.37:g.145533178C>T		Somatic	0	67	0		0.61599154991593	258	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K4L0|A8MW26|Q53XT4	Silent	SNP							pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.G88	ENST00000528838.1	37	c.264	CCDS6419.1	8																																																																																			-	pfam_HSF_DNA-bd,smart_HSF_DNA-bd		0.607	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	protein_coding	OTTHUMT00000382053.1	C	NM_005526	-		145533178	1	no_errors	ENST00000528838	ensembl	human	known	74_37	silent	SNP	1.000	T	T	145533178	C	T	145533178	2	4	76	1	0	0	0	0	0	0	0	1	7397	726	26	2		2	HSF1	8	145533178	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	83094525	145533178	830844	75	4109											
DGAT1	8694	genome.wustl.edu	37	chr8	145541664	145541664	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagcacaaggtgggggcgaaGaggaagtagtagagatctgg	18	4	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr8:145541664G>C	ENST00000332324.4	-	9	1041	c.768C>G	c.(766-768)ctC>ctG	p.L256L	DGAT1_ENST00000531896.1_Missense_Mutation_p.L287V|GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	256					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGGGGCGAAGAGGAAGTAGT	0.617																																																	0								ENSG00000185000						36	42	40					8																	145541664		2203	4295	6498	DGAT1	SO:0001819	synonymous_variant	0			-	HGNC	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.768C>G	8.37:g.145541664G>C		Somatic	0	19	0		0.61599154991593	55	33.73	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP							superfamily_PEP-util_enz_mobile_dom	p.L287V	ENST00000332324.4	37	c.859	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415904	0.25552	.	.	ENSG00000185000	ENST00000531896	.	.	.	4.68	-2.85	0.05734	.	0.639724	0.15908	N	0.238735	T	0.31888	0.0811	.	.	.	0.20074	N	0.999938	.	.	.	.	.	.	T	0.30534	-0.9975	6	0.66056	D	0.02	-23.293	2.8497	0.05554	0.144:0.3315:0.4075:0.117	.	.	.	.	V	287	.	ENSP00000432795:L287V	L	-	1	0	DGAT1	145512472	0.882000	0.30256	0.994000	0.49952	0.950000	0.60333	-0.045000	0.12003	-0.171000	0.10797	0.484000	0.47621	CTT	-	NULL		0.617	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	protein_coding	OTTHUMT00000382059.3	G	NM_012079	-		145541664	-1	no_errors	ENST00000531896	ensembl	human	putative	74_37	missense	SNP	0.929	C	C	145541664	G	C	145541664	2	2	76	1	0	0	0	0	0	0	0	1	4459	929	33	4		4	DGAT1	8	145541664	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	8486	145541664	822358	76	4110											
FREM1	158326	genome.wustl.edu	37	chr9	14746430	14746430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagtagcctgagtgctGgtgccacccggctggacagg	16	11	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr9:14746430G>T	ENST00000380880.3	-	35	6958	c.6175C>A	c.(6175-6177)Cag>Aag	p.Q2059K	FREM1_ENST00000422223.2_Missense_Mutation_p.Q2059K|FREM1_ENST00000380894.1_Missense_Mutation_p.Q595K|FREM1_ENST00000380881.4_Missense_Mutation_p.Q2060K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2059					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCTGAGTGCTGGTGCCACCCG	0.488																																																	0								ENSG00000164946						135	138	137					9																	14746430		1992	4158	6150	FREM1	SO:0001583	missense	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6175C>A	9.37:g.14746430G>T	ENSP00000370262:p.Gln2059Lys	Somatic	0	46	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.Q2060K	ENST00000380880.3	37	c.6178	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453029	0.43531	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	6.03	4.19	0.49359	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.521176	0.22413	N	0.060381	T	0.08447	0.0210	N	0.08118	0	0.20873	N	0.999834	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.26815	-1.0092	10	0.29301	T	0.29	-1.5149	9.3906	0.38370	0.2686:0.0:0.7314:0.0	.	2059;595	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	K	2060;2059;595;2059	ENSP00000370263:Q2060K;ENSP00000412940:Q2059K;ENSP00000370278:Q595K;ENSP00000370262:Q2059K	ENSP00000370262:Q2059K	Q	-	1	0	FREM1	14736430	0.999000	0.42202	0.988000	0.46212	0.972000	0.66771	2.786000	0.47790	1.553000	0.49476	0.557000	0.71058	CAG	-	superfamily_C-type_lectin_fold,smart_C-type_lectin		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	G	NM_144966	-		14746430	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	SNP	0.977	T	T	14746430	G	T	14746430	3	4	76	1	0	0	0	0	1	0	0	0	6046	1357	47	3	376	3	FREM1	9	14746430	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		14746430	126467001	77	4111											
FGD3	89846	genome.wustl.edu	37	chr9	95796885	95796885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgcggctgtcagagagCggtgagacctggagcgaggt	17	11	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr9:95796885C>T	ENST00000375482.3	+	17	2344	c.1848C>T	c.(1846-1848)agC>agT	p.S616S	FGD3_ENST00000538555.1_Silent_p.S219S|FGD3_ENST00000337352.6_Silent_p.S616S|FGD3_ENST00000416701.2_Silent_p.S615S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	616	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGTCAGAGAGCGGTGAGACCT	0.672																																																	0								ENSG00000127084						40	48	45					9																	95796885		2013	4173	6186	FGD3	SO:0001819	synonymous_variant	0			-	HGNC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1848C>T	9.37:g.95796885C>T		Somatic	0	40	0		0.61599154991593	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	44	38.03	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.S616	ENST00000375482.3	37	c.1848	CCDS43849.1	9																																																																																			-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.672	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	protein_coding	OTTHUMT00000055493.1	C	NM_033086	-		95796885	1	no_errors	ENST00000337352	ensembl	human	known	74_37	silent	SNP	0.000	T	T	95796885	C	T	95796885	2	4	76	1	0	0	0	0	0	0	0	1	5836	767	27	1		1	FGD3	9	95796885	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	81050455	95796885	45416546	78	4112											
SLC2A6	11182	genome.wustl.edu	37	chr9	136343454	136343454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctgggatgacaggggaTgtgtagaccagggcataccc	17	8	0	2	rs199947289	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr9:136343454T>C	ENST00000371899.4	-	2	254	c.177A>G	c.(175-177)acA>acG	p.T59T	SLC2A6_ENST00000371897.4_Silent_p.T59T|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	59					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGACAGGGGATGTGTAGACCA	0.587													T|||	2	0.000399361	0	0	5008	,	,		18451	0.002		0	False		,,,				2504	0																0								ENSG00000160326						165	159	161					9																	136343454		2203	4300	6503	SLC2A6	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.177A>G	9.37:g.136343454T>C		Somatic	0	97	0		0.61599154991593	6	45.45	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	50	29.58	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.T59	ENST00000371899.4	37	c.177	CCDS6975.1	9																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.587	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	protein_coding	OTTHUMT00000054909.1	T	NM_017585	rs199947289		136343454	-1	no_errors	ENST00000371899	ensembl	human	known	74_37	silent	SNP	0.323	C	C	136343454	T	C	136343454	2	2	76	1	0	0	0	0	0	0	0	1	14557	1451	51	5		5	SLC2A6	9	136343454	Silent	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	40546569	136343454	4869977	79	4113											
C10orf18	54906	genome.wustl.edu	37	chr10	5788391	5788391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcacccttgaaaacaaaGtggatattcttgatgcagca	9	9	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:5788391G>T	ENST00000328090.5	+	15	3632	c.3007G>T	c.(3007-3009)Gtg>Ttg	p.V1003L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1003																	TGAAAACAAAGTGGATATTCT	0.473																																																	0								ENSG00000108021						98	94	95					10																	5788391		1986	4166	6152	FAM208B	SO:0001583	missense	0			-	HGNC	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.3007G>T	10.37:g.5788391G>T	ENSP00000328426:p.Val1003Leu	Somatic	0	63	0		0.61599154991593	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP							pfam_DUF3715,pfam_DUF3699	p.V1003L	ENST00000328090.5	37	c.3007	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	12.48	1.952136	0.34471	.	.	ENSG00000108021	ENST00000328090	T	0.45276	0.9	5.3	4.39	0.52855	.	0.746895	0.11802	N	0.528049	T	0.36690	0.0976	L	0.52573	1.65	0.09310	N	1	B	0.23442	0.085	B	0.22152	0.038	T	0.12889	-1.0530	10	0.37606	T	0.19	.	8.8891	0.35423	0.0998:0.0:0.9002:0.0	.	1003	Q5VWN6	F208B_HUMAN	L	1003	ENSP00000328426:V1003L	ENSP00000328426:V1003L	V	+	1	0	C10orf18	5828397	0.064000	0.20934	0.092000	0.20876	0.057000	0.15508	1.404000	0.34623	2.450000	0.82876	0.655000	0.94253	GTG	-	pfam_DUF3715		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	protein_coding	OTTHUMT00000046571.2	G	NM_017782	-		5788391	1	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	SNP	0.050	T	T	5788391	G	T	5788391	3	4	76	1	0	0	0	0	1	0	0	0	1598	1029	36	3	3053	3	C10orf18	10	5788391	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		5788391	129746356	80	4114											
APBB1IP	54518	genome.wustl.edu	37	chr10	26849132	26849132	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggaatacggatagccaaGgtgagagagcgttcggactt	15	6	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:26849132G>T	ENST00000376236.4	+	12	1709	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	418	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GGATAGCCAAGGTGAGAGAGC	0.522																																																	0								ENSG00000077420						117	102	107					10																	26849132		2203	4300	6503	APBB1IP	SO:0001630	splice_region_variant	0			-	HGNC	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1254+1G>T	10.37:g.26849132G>T		Somatic	0	47	0		0.61599154991593	55	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP							pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.K418N	ENST00000376236.4	37	c.1254	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712747	0.89112	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.18338	2.22	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51521	-0.8695	10	0.87932	D	0	.	18.0722	0.89413	0.0:0.0:1.0:0.0	.	418	Q7Z5R6	AB1IP_HUMAN	N	418	ENSP00000365411:K418N	ENSP00000365411:K418N	K	+	3	2	APBB1IP	26889138	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.670000	0.83925	2.671000	0.90904	0.644000	0.83932	AAG	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.522	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	protein_coding	OTTHUMT00000047270.1	G	NM_019043	-	Missense_Mutation	26849132	1	no_errors	ENST00000376236	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26849132	G	T	26849132	5	4	76	1	0	0	0	0	0	0	1	0	760	1014	35	3	1292	3	APBB1IP	10	26849132	Splice_Site	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	21060741	26849132	108685615	81	4115											
OR13A1	79290	genome.wustl.edu	37	chr10	45799437	45799437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtaatgcagcgggtggCagatggctgcgtaccggtca	16	9	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:45799437C>A	ENST00000553795.1	-	4	742	c.434G>T	c.(433-435)tGc>tTc	p.C145F	OR13A1_ENST00000536058.1_Missense_Mutation_p.C145F|OR13A1_ENST00000374401.2_Missense_Mutation_p.C145F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CAGCGGGTGGCAGATGGCTGC	0.627																																																	0								ENSG00000256574						32	26	28					10																	45799437		2203	4300	6503	OR13A1	SO:0001583	missense	0			-	HGNC	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.434G>T	10.37:g.45799437C>A	ENSP00000451950:p.Cys145Phe	Somatic	0	18	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C145F	ENST00000553795.1	37	c.434	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	c	22.0	4.223670	0.79576	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.34472	1.36;1.36;1.36	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.72526	0.3471	H	0.95260	3.645	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.80856	-0.1195	10	0.87932	D	0	-77.0753	17.5765	0.87950	0.0:1.0:0.0:0.0	.	145	Q8NGR1	O13A1_HUMAN	F	145	ENSP00000451950:C145F;ENSP00000438657:C145F;ENSP00000363522:C145F	ENSP00000311379:C145F	C	-	2	0	OR13A1	45119443	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.604000	0.67626	2.724000	0.93272	0.650000	0.86243	TGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.627	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	protein_coding	OTTHUMT00000047779.2	C	NM_001004297	-		45799437	-1	no_errors	ENST00000374401	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45799437	C	A	45799437	3	1	76	1	0	0	0	0	1	0	0	0	10935	710	25	3	556	3	OR13A1	10	45799437	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	18950305	45799437	89735310	82	4116											
HKDC1	80201	genome.wustl.edu	37	chr10	70980216	70980216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggtccacttgatggcaTtttacttcagcaagctgaag	10	9	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:70980216T>C	ENST00000354624.5	+	1	158	c.25T>C	c.(25-27)Ttt>Ctt	p.F9L	HKDC1_ENST00000395086.2_Missense_Mutation_p.F9L|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	9					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)			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						CTTGATGGCATTTTACTTCAG	0.498																																																	0								ENSG00000156510						90	81	84					10																	70980216		2203	4300	6503	HKDC1	SO:0001583	missense	0			-	HGNC		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.25T>C	10.37:g.70980216T>C	ENSP00000346643:p.Phe9Leu	Somatic	0	58	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	15	66.67	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.F9L	ENST00000354624.5	37	c.25	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955926	0.73902	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98889	-5.21;-5.21	5.44	5.44	0.79542	.	0.121431	0.56097	D	0.000030	D	0.96824	0.8963	L	0.44542	1.39	0.49687	D	0.99981	B	0.02656	0.0	B	0.04013	0.001	D	0.94924	0.8076	10	0.41790	T	0.15	-4.6952	15.5123	0.75793	0.0:0.0:0.0:1.0	.	9	Q2TB90	HKDC1_HUMAN	L	9	ENSP00000346643:F9L;ENSP00000378521:F9L	ENSP00000346643:F9L	F	+	1	0	HKDC1	70650222	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	7.546000	0.82137	2.065000	0.61736	0.533000	0.62120	TTT	-	NULL		0.498	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	protein_coding	OTTHUMT00000048389.1	T	NM_025130	-		70980216	1	no_errors	ENST00000354624	ensembl	human	known	74_37	missense	SNP	0.997	C	C	70980216	T	C	70980216	3	2	76	1	0	0	0	0	1	0	0	0	7195	1493	52	5	27	5	HKDC1	10	70980216	Missense_Mutation	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	25180779	70980216	64554531	83	4117											
RGR	5995	genome.wustl.edu	37	chr10	86017696	86017696	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcggctggggcccCtatgccatcctgtatctata	10	14	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:86017696C>A	ENST00000359452.4	+	6	728	c.690C>A	c.(688-690)ccC>ccA	p.P230P	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	226					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GCTGGGGCCCCTATGCCATCC	0.547																																					NSCLC(15;204 545 5889 6385 32445)												0								ENSG00000148604						89	79	82					10																	86017696		2203	4300	6503	RGR	SO:0001819	synonymous_variant	0			-	HGNC	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.690C>A	10.37:g.86017696C>A		Somatic	0	34	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NKK7|Q96FC5	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn	p.P230	ENST00000359452.4	37	c.690	CCDS7374.1	10																																																																																			-	pfscan_GPCR_Rhodpsn_7TM		0.547	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	protein_coding	OTTHUMT00000049116.1	C	NM_002921	-		86017696	1	no_errors	ENST00000359452	ensembl	human	known	74_37	silent	SNP	0.997	A	A	86017696	C	A	86017696	2	1	76	1	0	0	0	0	0	0	0	1	13299	668	24	3		3	RGR	10	86017696	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	15037480	86017696	49517051	84	4118											
OPALIN	93377	genome.wustl.edu	37	chr10	98109509	98109509	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtgaatcaaagtaaaTagtaaagccaccagcagggc	10	9	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:98109509T>G	ENST00000371172.3	-	4	552	c.147A>C	c.(145-147)ctA>ctC	p.L49L	OPALIN_ENST00000393870.2_Silent_p.L38L|OPALIN_ENST00000393871.1_Silent_p.L26L|OPALIN_ENST00000419479.1_Silent_p.L39L|OPALIN_ENST00000536387.1_Silent_p.L39L	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	49						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCAAAGTAAATAGTAAAGCCA	0.507																																																	0								ENSG00000197430						71	69	69					10																	98109509		2203	4300	6503	OPALIN	SO:0001819	synonymous_variant	0			-	HGNC	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"transmembrane protein 10"	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.147A>C	10.37:g.98109509T>G		Somatic	0	36	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Silent	SNP							NULL	p.L49	ENST00000371172.3	37	c.147	CCDS7448.1	10																																																																																			-	NULL		0.507	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPALIN	protein_coding	OTTHUMT00000049606.1	T	NM_033207	-		98109509	-1	no_errors	ENST00000371172	ensembl	human	known	74_37	silent	SNP	0.000	G	G	98109509	T	G	98109509	2	3	76	1	0	0	0	0	0	0	0	1	10875	1393	49	5		5	OPALIN	10	98109509	Silent	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	12091813	98109509	37425238	85	4119											
ZDHHC16	84287	genome.wustl.edu	37	chr10	99212667	99212667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgtgtgctgaagatGgatcaccactgccgtatcct	11	11	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:99212667G>T	ENST00000370854.3	+	5	732	c.543G>T	c.(541-543)atG>atT	p.M181I	ZDHHC16_ENST00000393760.1_Missense_Mutation_p.M181I|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.M116I|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.M181I|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.M181I|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.M181I|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000495735.1_3'UTR	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	181					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TGCTGAAGATGGATCACCACT	0.512																																																	0								ENSG00000171307						430	283	333					10																	99212667		2203	4300	6503	ZDHHC16	SO:0001583	missense	0			-	HGNC	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.543G>T	10.37:g.99212667G>T	ENSP00000359891:p.Met181Ile	Somatic	0	39	0		0.61599154991593	72	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.M181I	ENST00000370854.3	37	c.543	CCDS7460.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.440794|4.440794	0.83993|0.83993	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000370842;ENST00000345745;ENST00000433086|ENST00000420089;ENST00000417044	T;T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Zinc finger, DHHC-type, palmitoyltransferase (2);|.	0.038966|.	0.85682|.	D|.	0.000000|.	D|D	0.91009|0.91009	0.7172|0.7172	H|H	0.98295|0.98295	4.195|4.195	0.80722|0.80722	D|D	1|1	D;D;D;P;D;D;D|.	0.89917|.	0.975;1.0;0.999;0.826;0.999;0.997;0.999|.	P;D;D;B;D;D;D|.	0.91635|.	0.875;0.992;0.999;0.446;0.979;0.967;0.986|.	D|D	0.93976|0.93976	0.7254|0.7254	10|5	0.87932|.	D|.	0|.	-3.1828|-3.1828	19.3993|19.3993	0.94621|0.94621	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	181;116;181;156;116;181;181|.	B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-4;Q969W1-2;Q969W1|.	.;.;.;.;.;.;ZDH16_HUMAN|.	I|L	181;181;181;181;181;181;116;116|157;123	ENSP00000359891:M181I;ENSP00000377357:M181I;ENSP00000400719:M181I;ENSP00000359883:M181I;ENSP00000345383:M181I;ENSP00000359879:M181I;ENSP00000304487:M116I;ENSP00000398532:M116I|.	ENSP00000304487:M116I|.	M|W	+|+	3|2	0|0	ZDHHC16|ZDHHC16	99202657|99202657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.365000|9.365000	0.97139|0.97139	2.821000|2.821000	0.97095|0.97095	0.561000|0.561000	0.74099|0.74099	ATG|TGG	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase		0.512	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	protein_coding	OTTHUMT00000049658.2	G	NM_032327	-		99212667	1	no_errors	ENST00000370854	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99212667	G	T	99212667	3	4	76	1	0	0	0	0	1	0	0	0	17613	1348	47	3	557	3	ZDHHC16	10	99212667	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1103158	99212667	36322080	86	4120											
GBF1	8729	genome.wustl.edu	37	chr10	104121645	104121645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactgttccaacctctttgaGgaactcacaaagctgctgtc	7	12	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:104121645G>C	ENST00000369983.3	+	14	1919	c.1659G>C	c.(1657-1659)gaG>gaC	p.E553D		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	553					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCTCTTTGAGGAACTCACAA	0.473																																																	0								ENSG00000107862						102	89	93					10																	104121645		2203	4300	6503	GBF1	SO:0001583	missense	0			-	HGNC	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1659G>C	10.37:g.104121645G>C	ENSP00000359000:p.Glu553Asp	Somatic	0	18	0		0.61599154991593	35	47.76	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	9	65.38	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP							pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.E553D	ENST00000369983.3	37	c.1659	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933518	0.52866	.	.	ENSG00000107862	ENST00000369983	T	0.68903	-0.36	6.17	-1.5	0.08691	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	M	0.63843	1.955	0.58432	D	0.999991	B;B;B	0.27594	0.182;0.146;0.012	B;B;B	0.29176	0.099;0.04;0.007	T	0.61342	-0.7082	10	0.62326	D	0.03	-17.6937	13.8793	0.63674	0.7309:0.0:0.2691:0.0	.	553;553;553	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	D	553	ENSP00000359000:E553D	ENSP00000359000:E553D	E	+	3	2	GBF1	104111635	0.995000	0.38212	0.994000	0.49952	0.985000	0.73830	0.465000	0.22004	-0.151000	0.11176	-0.136000	0.14681	GAG	-	superfamily_ARM-type_fold		0.473	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	protein_coding	OTTHUMT00000050051.1	G		-		104121645	1	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	SNP	0.984	C	C	104121645	G	C	104121645	3	2	76	1	0	0	0	0	1	0	0	0	6273	991	35	4	1709	4	GBF1	10	104121645	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	4908978	104121645	31413102	87	4121											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133976760	133976760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgatgccctgcagcaggaGgccggggctaaggtggctga	17	9	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr10:133976760G>T	ENST00000298622.4	+	19	2400	c.2262G>T	c.(2260-2262)gaG>gaT	p.E754D	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	754						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCAGCAGGAGGCCGGGGCTA	0.627																																																	0								ENSG00000188385						49	39	42					10																	133976760		2194	4290	6484	JAKMIP3	SO:0001583	missense	0			-	HGNC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2262G>T	10.37:g.133976760G>T	ENSP00000298622:p.Glu754Asp	Somatic	0	45	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	12	76.92	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP							NULL	p.E754D	ENST00000298622.4	37	c.2262	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878711	0.33162	.	.	ENSG00000188385	ENST00000298622	T	0.26957	1.7	3.97	-1.33	0.09172	.	.	.	.	.	T	0.15825	0.0381	L	0.31664	0.95	0.30296	N	0.789881	P;B	0.35507	0.506;0.02	B;B	0.36134	0.218;0.019	T	0.33650	-0.9860	9	0.17369	T	0.5	.	9.1058	0.36696	0.5803:0.0:0.4197:0.0	.	191;754	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	D	754	ENSP00000298622:E754D	ENSP00000298622:E754D	E	+	3	2	JAKMIP3	133826750	0.972000	0.33761	0.733000	0.30861	0.823000	0.46562	0.034000	0.13776	-0.124000	0.11724	-0.384000	0.06662	GAG	-	NULL		0.627	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	protein_coding	OTTHUMT00000051049.3	G	NM_194303	-		133976760	1	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	SNP	0.686	T	T	133976760	G	T	133976760	3	4	76	1	0	0	0	0	1	0	0	0	7944	991	35	3	2336	3	JAKMIP3	10	133976760	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	29855115	133976760	1557987	88	4122											
MUC2	4583	genome.wustl.edu	37	chr11	1104259	1104259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctaggcatctggggagcgGgtgagcggggtgggcacagc	20	10	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:1104259G>T	ENST00000441003.2	+	49	8477	c.8450G>T	c.(8449-8451)gGg>gTg	p.G2817V		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5179					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGGGAGCGGGTGAGCGGGG	0.672																																																	0								ENSG00000198788						33	37	36					11																	1104259		1863	4085	5948	MUC2	SO:0001583	missense	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8450G>T	11.37:g.1104259G>T	ENSP00000415183:p.Gly2817Val	Somatic	0	33	0		0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q14878	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G2817V	ENST00000441003.2	37	c.8450		11	.	.	.	.	.	.	.	.	.	.	G	0.267	-0.995808	0.02145	.	.	ENSG00000198788	ENST00000441003	T	0.12984	2.63	2.52	-5.03	0.02973	.	.	.	.	.	T	0.06872	0.0175	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.29212	-1.0019	9	0.87932	D	0	.	1.0775	0.01635	0.3169:0.3367:0.1361:0.2103	.	2817	E7EUV1	.	V	2817	ENSP00000415183:G2817V	ENSP00000415183:G2817V	G	+	2	0	MUC2	1094259	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.293000	0.01145	-3.710000	0.00117	-1.310000	0.01310	GGG	-	NULL		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1104259	1	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	SNP	0.000	T	T	1104259	G	T	1104259	3	4	76	1	0	0	0	0	1	0	0	0	9977	1232	43	3	8636	3	MUC2	11	1104259	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		1104259	133902257	89	4123											
TRPM5	29850	genome.wustl.edu	37	chr11	2437219	2437219	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggccagcttgagctcatccaGatagtcctgaggctcctggc	12	13	1	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:2437219G>T	ENST00000155858.6	-	8	1053	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	TRPM5_ENST00000452833.1_Missense_Mutation_p.L351M|TRPM5_ENST00000528453.1_Missense_Mutation_p.L349M|TRPM5_ENST00000533060.1_Missense_Mutation_p.L349M	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGCTCATCCAGATAGTCCTGA	0.647																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						80	53	62					11																	2437219		2187	4293	6480	TRPM5	SO:0001583	missense	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1045C>A	11.37:g.2437219G>T	ENSP00000155858:p.Leu349Met	Somatic	0	30	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.L351M	ENST00000155858.6	37	c.1051	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410813	0.62399	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	3.93	3.0	0.34707	.	0.000000	0.56097	D	0.000022	T	0.76926	0.4056	M	0.68317	2.08	0.42835	D	0.994035	D;D;D	0.89917	1.0;1.0;0.983	D;D;P	0.78314	0.991;0.991;0.885	T	0.77046	-0.2733	10	0.44086	T	0.13	-6.5666	11.454	0.50169	0.0963:0.0:0.9037:0.0	.	349;351;349	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	M	343;349;351;349;349;349	ENSP00000434383:L343M;ENSP00000155858:L349M;ENSP00000387965:L351M;ENSP00000434121:L349M;ENSP00000436809:L349M	ENSP00000155858:L349M	L	-	1	2	TRPM5	2393795	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.621000	0.54210	2.219000	0.72066	0.491000	0.48974	CTG	-	superfamily_Ankyrin_rpt-contain_dom		0.647	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	G	NM_014555	-		2437219	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2437219	G	T	2437219	3	4	76	1	0	0	0	0	1	0	0	0	16596	933	33	3	2520	3	TRPM5	11	2437219	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1332960	2437219	132569297	90	4124											
OR51E1	143503	genome.wustl.edu	37	chr11	4673847	4673847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaggctcagttctggttgGccttcccattgtgctccctc	10	13	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:4673847G>T	ENST00000530215.1	+	1	132	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	OR51E1_ENST00000396952.5_Missense_Mutation_p.A31S			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCTGGTTGGCCTTCCCATT	0.478																																																	0								ENSG00000180785						281	205	231					11																	4673847		2201	4298	6499	OR51E1	SO:0001583	missense	0			-	HGNC	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.91G>T	11.37:g.4673847G>T	ENSP00000431593:p.Ala31Ser	Somatic	0	55	0		0.61599154991593	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A31S	ENST00000530215.1	37	c.91		11	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868468	0.72065	.	.	ENSG00000180785	ENST00000396952;ENST00000530215	T;T	0.02974	4.09;8.08	4.87	4.87	0.63330	.	0.236139	0.29791	N	0.011187	T	0.02047	0.0064	N	0.12853	0.265	0.38311	D	0.943265	B	0.23490	0.086	B	0.24269	0.052	T	0.35773	-0.9775	10	0.02654	T	1	.	16.7377	0.85451	0.0:0.0:1.0:0.0	.	30	Q8TCB6	O51E1_HUMAN	S	31	ENSP00000380155:A31S;ENSP00000431593:A31S	ENSP00000380155:A31S	A	+	1	0	OR51E1	4630423	0.365000	0.25006	1.000000	0.80357	0.992000	0.81027	0.629000	0.24538	2.530000	0.85305	0.655000	0.94253	GCC	-	prints_GPCR_Rhodpsn		0.478	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	OR51E1	protein_coding	OTTHUMT00000385957.1	G	NM_152430	-		4673847	1	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4673847	G	T	4673847	3	4	76	1	0	0	0	0	1	0	0	0	11096	1203	42	3	93	3	OR51E1	11	4673847	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	2236628	4673847	130332669	91	4125											
DCHS1	8642	genome.wustl.edu	37	chr11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggtcattgatgtccaGcagtgtcacgtccagcaggg	14	10	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGTCCAGCAGTGTCACG	0.607																																																	0								ENSG00000166341						105	105	105					11																	6662109		2201	4296	6497	DCHS1	SO:0001583	missense	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.736C>A	11.37:g.6662109G>T	ENSP00000299441:p.Leu246Met	Somatic	0	42	0		0.61599154991593	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	15.38	O15098	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L246M	ENST00000299441.3	37	c.736	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479284	0.44044	.	.	ENSG00000166341	ENST00000299441	T	0.43688	0.94	4.71	3.73	0.42828	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.218597	0.23340	N	0.049245	T	0.67287	0.2877	M	0.87381	2.88	0.28461	N	0.915875	D	0.76494	0.999	D	0.87578	0.998	T	0.63559	-0.6610	10	0.45353	T	0.12	.	14.5287	0.67909	0.0:0.1468:0.8532:0.0	.	246	Q96JQ0	PCD16_HUMAN	M	246	ENSP00000299441:L246M	ENSP00000299441:L246M	L	-	1	2	DCHS1	6618685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.325000	0.52030	2.312000	0.78011	0.544000	0.68410	CTG	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	G	NM_003737	-		6662109	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	SNP	0.997	T	T	6662109	G	T	6662109	3	4	76	1	0	0	0	0	1	0	0	0	4289	962	34	3	9240	3	DCHS1	11	6662109	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1988262	6662109	128344407	92	4126											
E2F8	79733	genome.wustl.edu	37	chr11	19258889	19258889	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgccacttcgtcaaggcaGatgtcattattcacagcagg	9	11	4	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:19258889G>T	ENST00000527884.1	-	4	655	c.423C>A	c.(421-423)atC>atA	p.I141I	E2F8_ENST00000250024.4_Silent_p.I141I|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	141					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						CGTCAAGGCAGATGTCATTAT	0.378																																																	0								ENSG00000129173						103	97	99					11																	19258889		2199	4293	6492	E2F8	SO:0001819	synonymous_variant	0			-	HGNC		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.423C>A	11.37:g.19258889G>T		Somatic	0	80	0		0.61599154991593	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	69	9.21	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP							pfam_E2F_TDP	p.I141	ENST00000527884.1	37	c.423	CCDS7849.1	11																																																																																			-	pfam_E2F_TDP		0.378	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	protein_coding	OTTHUMT00000387830.1	G	NM_024680	-		19258889	-1	no_errors	ENST00000250024	ensembl	human	known	74_37	silent	SNP	1.000	T	T	19258889	G	T	19258889	2	4	76	1	0	0	0	0	0	0	0	1	4875	932	33	3		3	E2F8	11	19258889	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	12596780	19258889	115747627	93	4127											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34111815	34111815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagagcaacgaccacagaaGgaaccaattgatcagattca	8	10	2	4			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:34111815G>T	ENST00000341394.4	+	13	1572	c.1383G>T	c.(1381-1383)aaG>aaT	p.K461N	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.K380N|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.K461N|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.K461N|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.K461N	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	461					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GACCACAGAAGGAACCAATTG	0.428																																																	0								ENSG00000135387						131	112	118					11																	34111815		2202	4298	6500	CAPRIN1	SO:0001583	missense	0			-	HGNC	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1383G>T	11.37:g.34111815G>T	ENSP00000340329:p.Lys461Asn	Somatic	0	64	0		0.61599154991593	344	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP							pfam_Caprin-1_C	p.K461N	ENST00000341394.4	37	c.1383	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826814	0.32329	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.72	0.695	0.18070	.	0.205046	0.50627	D	0.000110	T	0.13670	0.0331	L	0.36672	1.1	0.49915	D	0.999839	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.13818	-1.0495	10	0.17369	T	0.5	.	9.8784	0.41218	0.5196:0.0:0.4804:0.0	.	461;461	Q14444;Q14444-2	CAPR1_HUMAN;.	N	461;461;461;461;380	ENSP00000340329:K461N;ENSP00000374296:K461N;ENSP00000434150:K461N;ENSP00000434204:K461N;ENSP00000431581:K380N	ENSP00000340329:K461N	K	+	3	2	CAPRIN1	34068391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.000000	0.29770	0.357000	0.24183	0.650000	0.86243	AAG	-	pfam_Caprin-1_C		0.428	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	protein_coding	OTTHUMT00000388680.2	G	NM_005898	-		34111815	1	no_errors	ENST00000341394	ensembl	human	known	74_37	missense	SNP	0.997	T	T	34111815	G	T	34111815	3	4	76	1	0	0	0	0	1	0	0	0	2637	991	35	3	1429	3	CAPRIN1	11	34111815	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	14852926	34111815	100894701	94	4128											
PAMR1	25891	genome.wustl.edu	37	chr11	35454312	35454312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggaagtgctgagatcCcgactggcagcgaggcagat	16	8	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:35454312C>T	ENST00000378880.2	-	11	2200	c.1755G>A	c.(1753-1755)cgG>cgA	p.R585R	PAMR1_ENST00000378878.3_Silent_p.R474R|PAMR1_ENST00000278360.3_Silent_p.R602R|PAMR1_ENST00000532848.1_Silent_p.R545R	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	585	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTGAGATCCCGACTGGCAG	0.592																																																	0								ENSG00000149090						75	67	69					11																	35454312		2202	4298	6500	PAMR1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1755G>A	11.37:g.35454312C>T		Somatic	0	49	0		0.61599154991593	74	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.R602	ENST00000378880.2	37	c.1806	CCDS31460.1	11																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.592	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	protein_coding	OTTHUMT00000389177.1	C	NM_015430	-		35454312	-1	no_errors	ENST00000278360	ensembl	human	known	74_37	silent	SNP	0.991	T	T	35454312	C	T	35454312	2	4	76	1	0	0	0	0	0	0	0	1	11415	610	22	2		2	PAMR1	11	35454312	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	1342497	35454312	99552204	95	4129											
GRIK4	2900	genome.wustl.edu	37	chr11	120833172	120833172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttttcccagaattcccGctaccagacctaccaacgca	5	16	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:120833172G>T	ENST00000527524.2	+	18	2335	c.2048G>T	c.(2047-2049)cGc>cTc	p.R683L	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					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)	p.R683H(2)		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)		CAGAATTCCCGCTACCAGACC	0.483																																																	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)						ENSG00000149403						59	54	56					11																	120833172		2203	4299	6502	GRIK4	SO:0001583	missense	0			-	HGNC	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.2048G>T	11.37:g.120833172G>T	ENSP00000435648:p.Arg683Leu	Somatic	0	60	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8K9L1	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R683L	ENST00000527524.2	37	c.2048	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.410260	0.96072	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.10099	2.91;2.91	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.083443	0.85682	D	0.000000	T	0.32734	0.0839	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00834	-1.1547	10	0.87932	D	0	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	683;683	A6H8K8;Q16099	.;GRIK4_HUMAN	L	683	ENSP00000435648:R683L;ENSP00000404063:R683L	ENSP00000404063:R683L	R	+	2	0	GRIK4	120338382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.676000	0.91093	0.655000	0.94253	CGC	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.483	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	G	NM_014619	-		120833172	1	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120833172	G	T	120833172	3	4	76	1	0	0	0	0	1	0	0	0	6778	1087	38	3	2110	3	GRIK4	11	120833172	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	85378860	120833172	14173344	96	4130											
FOXRED1	55572	genome.wustl.edu	37	chr11	126146398	126146398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattaggtagcaactacctaGgtggtcgtagccccactgag	12	10	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr11:126146398G>T	ENST00000263578.5	+	9	1155	c.1081G>T	c.(1081-1083)Ggt>Tgt	p.G361C	FOXRED1_ENST00000442061.2_Missense_Mutation_p.G191C|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.G347C	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	361						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CAACTACCTAGGTGGTCGTAG	0.552																																																	0								ENSG00000110074						93	89	90					11																	126146398		2201	4298	6499	FOXRED1	SO:0001583	missense	0			-	HGNC		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1081G>T	11.37:g.126146398G>T	ENSP00000263578:p.Gly361Cys	Somatic	0	39	0		0.61599154991593	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase	p.G361C	ENST00000263578.5	37	c.1081	CCDS8471.1	11	.	.	.	.	.	.	.	.	.	.	g	10.23	1.293679	0.23564	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.86497	-2.13;-2.13;-2.13	5.52	5.52	0.82312	FAD dependent oxidoreductase (1);	0.198470	0.52532	D	0.000068	T	0.77226	0.4099	N	0.10629	0.01	0.32715	N	0.511072	B;B;B	0.22746	0.0;0.074;0.0	B;B;B	0.26770	0.002;0.073;0.004	T	0.72821	-0.4177	9	.	.	.	-7.4428	19.1206	0.93362	0.0:0.0:1.0:0.0	.	347;228;361	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	C	361;191;347	ENSP00000263578:G361C;ENSP00000404371:G191C;ENSP00000434178:G347C	.	G	+	1	0	FOXRED1	125651608	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	6.032000	0.70918	2.619000	0.88677	0.574000	0.79327	GGT	-	pfam_FAD-dep_OxRdtase		0.552	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	protein_coding	OTTHUMT00000386434.1	G	NM_017547	-		126146398	1	no_errors	ENST00000263578	ensembl	human	known	74_37	missense	SNP	0.996	T	T	126146398	G	T	126146398	3	4	76	1	0	0	0	0	1	0	0	0	6035	1000	35	3	1115	3	FOXRED1	11	126146398	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	5313226	126146398	8860118	97	4131											
ZCRB1	85437	genome.wustl.edu	37	chr12	42706971	42706971	+	Frame_Shift_Del	DEL	T	T	-													actcctgaactgggtttccaTtttttttgttcttcttcaat							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr12:42706971delT	ENST00000266529.3	-	8	735	c.552delA	c.(550-552)aaafs	p.K184fs	ZCRB1_ENST00000552673.1_Frame_Shift_Del_p.K143fs|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	184					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TGGGTTTCCATTTTTTTTGTT	0.328																																																	0								ENSG00000139168						123	112	116					12																	42706971		2203	4300	6503	ZCRB1	SO:0001589	frameshift_variant	0				HGNC	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	29620	protein-coding gene	gene with protein product	"U11/U12 snRNP 31K"	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.552delA	12.37:g.42706971delT	ENSP00000266529:p.Lys184fs	Somatic	0	54	0		0.61599154991593	260	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q6PJX0|Q96TA6	Frame_Shift_Del	DEL							pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.K184fs	ENST00000266529.3	37	c.552	CCDS8740.1	12																																																																																			-	NULL		0.328	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCRB1	protein_coding	OTTHUMT00000403813.1	T	NM_033114			42706971	-1	no_errors	ENST00000266529	ensembl	human	known	74_37	frame_shift_del	DEL	0.732	-	-	42706971	T	-	42706971	7	5	76	1	0	1	0	1	0	0	0	0	17603	1490	52	0	105	0	ZCRB1	12	42706971	Frame_Shift_Del	DEL	T	TCGA-DX-A6YQ-01A-12D-A33E-09		42706971	91144924	98	4132											
MAP3K12	7786	genome.wustl.edu	37	chr12	53876539	53876539	+	Frame_Shift_Del	DEL	G	G	-													aatctgggctggtggagccaGgggctgagccctcacttggt							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr12:53876539delG	ENST00000267079.2	-	12	2174	c.1949delC	c.(1948-1950)cctfs	p.P650fs	MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.P683fs|MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.P683fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	650					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGTGGAGCCAGGGGCTGAGCC	0.687																																																	0								ENSG00000139625						37	44	42					12																	53876539		2201	4299	6500	MAP3K12	SO:0001589	frameshift_variant	0				HGNC	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1949delC	12.37:g.53876539delG	ENSP00000267079:p.Pro650fs	Somatic	0	30	0		0.61599154991593	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL							pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P650fs	ENST00000267079.2	37	c.1949	CCDS8860.1	12																																																																																			-	pirsf_MAP3K12_MAP3K13		0.687	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	protein_coding	OTTHUMT00000406267.1	G	NM_006301			53876539	-1	no_errors	ENST00000267079	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	53876539	G	-	53876539	7	5	76	1	0	1	0	1	0	0	0	0	9248	1000	35	0	646	0	MAP3K12	12	53876539	Frame_Shift_Del	DEL	G	TCGA-DX-A6YQ-01A-12D-A33E-09	11169568	53876539	79975356	99	4133											
ITGA7	3679	genome.wustl.edu	37	chr12	56088249	56088249	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccaacagcagctctacctCcagttccgtggtctcaatgc	9	15	2	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr12:56088249C>A	ENST00000555728.1	-	18	2495	c.2467G>T	c.(2467-2469)Gag>Tag	p.E823*	ITGA7_ENST00000257879.6_Nonsense_Mutation_p.E779*|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.E686*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.E783*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.E783*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.E779*|ITGA7_ENST00000257880.7_Nonsense_Mutation_p.E823*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.E773*			Q13683	ITA7_HUMAN	integrin, alpha 7	823					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCTCTACCTCCAGTTCCGTG	0.582																																																	0								ENSG00000135424						74	65	68					12																	56088249		2203	4300	6503	ITGA7	SO:0001587	stop_gained	0			-	HGNC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2467G>T	12.37:g.56088249C>A	ENSP00000452387:p.Glu823*	Somatic	0	42	0		0.61599154991593	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Nonsense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E823*	ENST00000555728.1	37	c.2467		12	.	.	.	.	.	.	.	.	.	.	C	38	7.144508	0.98092	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	.	.	.	4.56	3.65	0.41850	.	0.382752	0.26119	N	0.026234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	11.0515	0.47893	0.0:0.9067:0.0:0.0933	.	.	.	.	X	783;779;773;686;823;783;779;652;823	.	ENSP00000257879:E779X	E	-	1	0	ITGA7	54374516	0.036000	0.19791	1.000000	0.80357	0.963000	0.63663	1.546000	0.36179	1.255000	0.44051	0.555000	0.69702	GAG	-	pfam_Integrin_alpha-2		0.582	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	protein_coding	OTTHUMT00000410138.1	C	NM_002206	-		56088249	-1	no_errors	ENST00000555728	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	56088249	C	A	56088249	4	1	76	1	0	0	0	0	0	1	0	0	7883	864	30	3	1114	3	ITGA7	12	56088249	Nonsense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	2211710	56088249	77763646	100	4134											
NACA	4666	genome.wustl.edu	37	chr12	57110121	57110121	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggggctggagccactgtGgaaaggggtcctttagaacc	16	8	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr12:57110121G>T	ENST00000454682.1	-	3	5474	c.5193C>A	c.(5191-5193)tcC>tcA	p.S1731S	NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1731	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGCCACTGTGGAAAGGGGTC	0.512			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0								ENSG00000196531						227	210	215					12																	57110121		1568	3582	5150	NACA	SO:0001819	synonymous_variant	0			-	HGNC	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5193C>A	12.37:g.57110121G>T		Somatic	0	41	0		0.61599154991593	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Silent	SNP							pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.S1731	ENST00000454682.1	37	c.5193		12																																																																																			-	NULL		0.512	NACA-201	KNOWN	basic	protein_coding	NACA	protein_coding		G	NM_005594	-		57110121	-1	no_errors	ENST00000454682	ensembl	human	known	74_37	silent	SNP	0.000	T	T	57110121	G	T	57110121	2	4	76	1	0	0	0	0	0	0	0	1	10135	1335	47	3		3	NACA	12	57110121	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1021872	57110121	76741774	101	4135											
PTPRB	5787	genome.wustl.edu	37	chr12	70988365	70988365	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggaagtagcatgtttgtcCacaacaccgccatgaactag	9	10	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr12:70988365C>A	ENST00000261266.5	-	4	773	c.744G>T	c.(742-744)gtG>gtT	p.V248V	PTPRB_ENST00000551525.1_Silent_p.V465V|PTPRB_ENST00000451516.2_Silent_p.V248V|PTPRB_ENST00000334414.6_Silent_p.V466V|PTPRB_ENST00000550358.1_Silent_p.V466V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.V248V|PTPRB_ENST00000538708.1_Silent_p.V248V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	248	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTTTGTCCACAACACCGC	0.502																																																	0								ENSG00000127329						160	162	161					12																	70988365		2019	4204	6223	PTPRB	SO:0001819	synonymous_variant	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.744G>T	12.37:g.70988365C>A		Somatic	0	69	0		0.61599154991593	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP							pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V466	ENST00000261266.5	37	c.1398	CCDS44944.1	12																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	C		-		70988365	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	silent	SNP	0.968	A	A	70988365	C	A	70988365	2	1	76	1	0	0	0	0	0	0	0	1	12804	581	21	3		3	PTPRB	12	70988365	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	13878244	70988365	62863530	102	4136											
C13orf39	196541	genome.wustl.edu	37	chr13	103339326	103339326	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggaaacaaggcctggtcCggcaccaatttcaagtattt	9	9	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr13:103339326C>A	ENST00000267273.6	-	3	369	c.364G>T	c.(364-366)Gga>Tga	p.G122*		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	122	S-adenosyl-L-methionine binding. {ECO:0000269|Ref.5}.				peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AGGCCTGGTCCGGCACCAATT	0.373																																																	0								ENSG00000139780						77	69	71					13																	103339326		2203	4300	6503	METTL21C	SO:0001587	stop_gained	0			-	HGNC		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.364G>T	13.37:g.103339326C>A	ENSP00000267273:p.Gly122*	Somatic	0	57	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Nonsense_Mutation	SNP							pfam_Nicotinamide_N-MeTfrase-like	p.G122*	ENST00000267273.6	37	c.364	CCDS32003.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.262163	0.95368	.	.	ENSG00000139780	ENST00000267273	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.3638	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000267273:G122X	G	-	1	0	METTL21C	102137327	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.138000	0.77305	2.831000	0.97527	0.650000	0.86243	GGA	-	pfam_Nicotinamide_N-MeTfrase-like		0.373	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21C	protein_coding	OTTHUMT00000045682.2	C	NM_001010977	-		103339326	-1	no_errors	ENST00000267273	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	103339326	C	A	103339326	4	1	76	1	0	0	0	0	0	1	0	0	1734	661	23	3	438	3	C13orf39	13	103339326	Nonsense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		103339326	11830552	103	4137											
FAM155A	728215	genome.wustl.edu	37	chr13	107822972	107822972	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtacaagaacacacagcttgAgtctgctgttgcacagtctt	9	10	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr13:107822972A>T	ENST00000375915.2	-	3	1388	c.1250T>A	c.(1249-1251)cTc>cAc	p.L417H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	417						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						ACACAGCTTGAGTCTGCTGTT	0.502																																																	0								ENSG00000204442						263	182	210					13																	107822972		2203	4300	6503	FAM155A	SO:0001583	missense	0			-	HGNC	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.1250T>A	13.37:g.107822972A>T	ENSP00000365080:p.Leu417His	Somatic	0	57	0		0.61599154991593	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	B2RUV1|B7Z334	Missense_Mutation	SNP							NULL	p.L417H	ENST00000375915.2	37	c.1250	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695882	0.88830	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73353	-0.4009	9	0.87932	D	0	.	15.2977	0.73922	1.0:0.0:0.0:0.0	.	417	B1AL88	F155A_HUMAN	H	417	.	ENSP00000365080:L417H	L	-	2	0	FAM155A	106620973	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.533000	0.90617	2.199000	0.70637	0.519000	0.50382	CTC	-	NULL		0.502	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	protein_coding	OTTHUMT00000045736.2	A	NM_001080396	-		107822972	-1	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107822972	A	T	107822972	3	4	76	1	0	0	0	0	1	0	0	0	5467	304	11	5	130	5	FAM155A	13	107822972	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	4483646	107822972	7346906	104	4138											
GRK1	6011	genome.wustl.edu	37	chr13	114321791	114321791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcagctcccaaccctcCcgggacaagaagtacctggc	11	16	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr13:114321791C>A	ENST00000335678.6	+	1	322	c.90C>A	c.(88-90)tcC>tcA	p.S30S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	30	N-terminal.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCCAACCCTCCCGGGACAAGA	0.622																																																	0								ENSG00000185974						28	34	32					13																	114321791		2078	4207	6285	GRK1	SO:0001819	synonymous_variant	0			-	HGNC			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.90C>A	13.37:g.114321791C>A		Somatic	0	59	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q53X14	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.S30	ENST00000335678.6	37	c.90		13																																																																																			-	NULL		0.622	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	protein_coding	OTTHUMT00000470655.1	C	NM_002929	-		114321791	1	no_errors	ENST00000335678	ensembl	human	known	74_37	silent	SNP	0.993	A	A	114321791	C	A	114321791	2	1	76	1	0	0	0	0	0	0	0	1	6792	610	22	3		3	GRK1	13	114321791	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	6498819	114321791	848087	105	4139											
POTEG	404785	genome.wustl.edu	37	chr14	19559063	19559063	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgatccgaatattccagatGagtatggaaataccgctcta	8	9	1	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr14:19559063G>C	ENST00000409832.3	+	3	761	c.709G>C	c.(709-711)Gag>Cag	p.E237Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	237										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TATTCCAGATGAGTATGGAAA	0.393																																																	0								ENSG00000222036						47	51	50					14																	19559063		1266	2814	4080	POTEG	SO:0001583	missense	0			-	HGNC		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.709G>C	14.37:g.19559063G>C	ENSP00000386971:p.Glu237Gln	Somatic	0	258	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	241	12.68	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E237Q	ENST00000409832.3	37	c.709	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	g	10.34	1.323315	0.24080	.	.	ENSG00000222036	ENST00000409832	T	0.53640	0.61	1.87	-2.81	0.05805	Ankyrin repeat-containing domain (3);	3.877450	0.00775	N	0.001236	T	0.54647	0.1871	L	0.48260	1.515	0.09310	N	1	D	0.55800	0.973	P	0.58266	0.836	T	0.50224	-0.8853	10	0.44086	T	0.13	.	6.539	0.22370	0.6634:0.0:0.3366:0.0	.	237	Q6S5H5	POTEG_HUMAN	Q	237	ENSP00000386971:E237Q	ENSP00000386971:E237Q	E	+	1	0	POTEG	18629063	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-2.861000	0.00726	-0.873000	0.04032	0.184000	0.17185	GAG	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.393	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	protein_coding	OTTHUMT00000408579.1	G	NM_001005356	-		19559063	1	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	SNP	0.000	C	C	19559063	G	C	19559063	3	2	76	1	0	0	0	0	1	0	0	0	12268	1291	45	4	719	4	POTEG	14	19559063	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		19559063	87790477	106	4140											
NUMB	8650	genome.wustl.edu	37	chr14	73743865	73743865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggctgcagaggagcagcTgaggcctggggctgctgagc	18	10	0	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr14:73743865T>C	ENST00000355058.3	-	13	1655	c.1377A>G	c.(1375-1377)tcA>tcG	p.S459S	NUMB_ENST00000555738.2_Silent_p.S302S|NUMB_ENST00000555394.1_Silent_p.S411S|NUMB_ENST00000554546.1_Silent_p.S400S|NUMB_ENST00000560335.1_Silent_p.S313S|NUMB_ENST00000356296.4_Silent_p.S411S|NUMB_ENST00000554521.2_Silent_p.S253S|NUMB_ENST00000454166.4_Silent_p.S313S|NUMB_ENST00000544991.3_Silent_p.S264S|NUMB_ENST00000557597.1_Silent_p.S448S|NUMB_ENST00000556772.1_Silent_p.S315S|NUMB_ENST00000555238.1_Silent_p.S459S|NUMB_ENST00000359560.3_Silent_p.S448S|NUMB_ENST00000559312.1_Silent_p.S264S|NUMB_ENST00000535282.1_Silent_p.S448S			P49757	NUMB_HUMAN	numb homolog (Drosophila)	459					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GAGGAGCAGCTGAGGCCTGGG	0.607																																																	0								ENSG00000133961						47	45	46					14																	73743865		2203	4300	6503	NUMB	SO:0001819	synonymous_variant	0			-	HGNC	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1377A>G	14.37:g.73743865T>C		Somatic	0	31	0		0.61599154991593	104	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.S459	ENST00000355058.3	37	c.1377	CCDS32116.1	14																																																																																			-	pirsf_Numb/numb-like		0.607	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	protein_coding	OTTHUMT00000414416.1	T		-		73743865	-1	no_errors	ENST00000355058	ensembl	human	known	74_37	silent	SNP	0.908	C	C	73743865	T	C	73743865	2	2	76	1	0	0	0	0	0	0	0	1	10753	1567	55	5		5	NUMB	14	73743865	Silent	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	54184802	73743865	33605675	107	4141											
C14orf43	91748	genome.wustl.edu	37	chr14	74205954	74205956	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgctgtggtTgctgctgctgctgctgcttc							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr14:74205954_74205956delTGC	ENST00000286523.5	-	2	1538_1540	c.756_758delGCA	c.(754-759)cagcaa>caa	p.252_253QQ>Q	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.252_253QQ>Q	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	252	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ctgctgtggttgctgctgctgct	0.645																																																	0								ENSG00000156030																																			ELMSAN1	SO:0001651	inframe_deletion	0				HGNC	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.756_758delGCA	14.37:g.74205963_74205965delTGC	ENSP00000286523:p.Gln253del	Somatic	0	39	0		0.61599154991593	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL							pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.Q253in_frame_del	ENST00000286523.5	37	c.758_756	CCDS9819.1	14																																																																																			-	NULL		0.645	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	protein_coding	OTTHUMT00000317793.1	TGC	NM_194278			74205956	-1	no_errors	ENST00000286523	ensembl	human	known	74_37	in_frame_del	DEL	0.074:0.180:0.001	-	-	74205956	TGC	-	74205954	7	5	76	1	0	1	0	1	0	0	0	0	1776	1812	63	0	2423	0	C14orf43	14	74205954	In_Frame_Del	DEL	TGC	TCGA-DX-A6YQ-01A-12D-A33E-09	462089	74205954	33143586	108	4142											
GJD2	57369	genome.wustl.edu	37	chr15	35045464	35045464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcaggcctggttacagcCgggctgcagggtgttgcaca	15	10	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr15:35045464C>A	ENST00000290374.4	-	2	657	c.181G>T	c.(181-183)Ggc>Tgc	p.G61C	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	61					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGGTTACAGCCGGGCTGCAGG	0.547																																																	0								ENSG00000159248						92	82	85					15																	35045464		2201	4298	6499	GJD2	SO:0001583	missense	0			-	HGNC	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.181G>T	15.37:g.35045464C>A	ENSP00000290374:p.Gly61Cys	Somatic	0	44	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	Q2M241|Q9P2R0	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.G61C	ENST00000290374.4	37	c.181	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823427	0.71143	.	.	ENSG00000159248	ENST00000290374	D	0.99814	-6.89	5.09	5.09	0.68999	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.64402	D	0.000015	D	0.99837	0.9926	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96897	0.9657	10	0.87932	D	0	.	18.6722	0.91516	0.0:1.0:0.0:0.0	.	61	Q9UKL4	CXD2_HUMAN	C	61	ENSP00000290374:G61C	ENSP00000290374:G61C	G	-	1	0	GJD2	32832756	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.651000	0.83577	2.648000	0.89879	0.555000	0.69702	GGC	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin		0.547	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	protein_coding	OTTHUMT00000251875.2	C		-		35045464	-1	no_errors	ENST00000290374	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35045464	C	A	35045464	3	1	76	1	0	0	0	0	1	0	0	0	6419	652	23	3	788	3	GJD2	15	35045464	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		35045464	67485928	109	4143											
THBS1	7057	genome.wustl.edu	37	chr15	39874116	39874116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtgtgtggcaccaacCgcattccaggtgagtttgtg	13	9	0	1	rs201203521		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr15:39874116C>A	ENST00000260356.5	+	2	223	c.58C>A	c.(58-60)Cgc>Agc	p.R20S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	20					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGGCACCAACCGCATTCCAGG	0.607											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000137801						130	107	115					15																	39874116		2200	4297	6497	THBS1	SO:0001583	missense	0			-	HGNC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.58C>A	15.37:g.39874116C>A	ENSP00000260356:p.Arg20Ser	Somatic	0	22	0	889	0.61599154991593	66	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R20S	ENST00000260356.5	37	c.58	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875501	0.51695	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.77098	-1.07;0.8	4.94	2.84	0.33178	.	0.464939	0.16116	N	0.228869	T	0.65354	0.2683	L	0.36672	1.1	0.31878	N	0.618894	B	0.31625	0.332	B	0.26693	0.072	T	0.69359	-0.5166	10	0.51188	T	0.08	-14.3285	9.3684	0.38239	0.4152:0.5848:0.0:0.0	.	20	P07996	TSP1_HUMAN	S	20	ENSP00000260356:R20S;ENSP00000380720:R20S	ENSP00000260356:R20S	R	+	1	0	THBS1	37661408	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.304000	0.19228	1.251000	0.43983	0.591000	0.81541	CGC	-	NULL		0.607	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	protein_coding	OTTHUMT00000257831.2	C	NM_003246	-		39874116	1	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39874116	C	A	39874116	3	1	76	1	0	0	0	0	1	0	0	0	15860	652	23	3	60	3	THBS1	15	39874116	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	4828652	39874116	62657276	110	4144											
ZFYVE19	84936	genome.wustl.edu	37	chr15	41099899	41099900	+	In_Frame_Ins	INS	-	-	GGGGCGGGGCGGGGC													gacagtgccagtgggcgtgtINSggggcggggcagggcaggga					rs371684343|rs200042011|rs142730574|rs369585041	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr15:41099899_41099900insGGGGCGGGGCGGGGC	ENST00000355341.4	+	1	613_614	c.112_113insGGGGCGGGGCGGGGC	c.(112-114)tgg>tGGGGCGGGGCGGGGCgg	p.38_39insGGAGR	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000299173.10_In_Frame_Ins_p.38_39insGGAGR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000564258.1_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	38					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTGGGCGTGTGgggcggggca	0.718																																																	0								ENSG00000166140																																			ZFYVE19	SO:0001652	inframe_insertion	0				HGNC	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		Exception_encountered	15.37:g.41099899_41099900insGGGGCGGGGCGGGGC	ENSP00000347498:p.Trp38_Gly39insGlyGlyAlaGlyArg	Somatic					0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	In_Frame_Ins	INS							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.42in_frame_insGRGGA	ENST00000355341.4	37	c.112_113	CCDS42025.1	15																																																																																			-	NULL		0.718	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	protein_coding	OTTHUMT00000418996.1	-	NM_032850			41099900	1	no_errors	ENST00000355341	ensembl	human	known	74_37	in_frame_ins	INS	0.028:0.002	GGGGCGGGGCGGGGC	GGGGCGGGGCGGGGC	41099900	-	GGGGCGGGGCGGGGC	41099899	7	5	76	1	0	1	1	0	0	0	0	0	17672	1696	59	0	114	0	ZFYVE19	15	41099899	In_Frame_Ins	INS	-	TCGA-DX-A6YQ-01A-12D-A33E-09	1225783	41099899	61431493	111	4145											
TYRO3	7301	genome.wustl.edu	37	chr15	41859686	41859686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtgccaatgccttGgggccctctccctatgctga	12	14	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr15:41859686G>T	ENST00000263798.3	+	7	1136	c.912G>T	c.(910-912)ttG>ttT	p.L304F	TYRO3_ENST00000559066.1_Missense_Mutation_p.L259F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	304	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CCAATGCCTTGGGGCCCTCTC	0.642																																																	0								ENSG00000092445						95	95	95					15																	41859686		2203	4300	6503	TYRO3	SO:0001583	missense	0			-	HGNC	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.912G>T	15.37:g.41859686G>T	ENSP00000263798:p.Leu304Phe	Somatic	0	39	0		0.61599154991593	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O14953|Q86VR3	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L304F	ENST00000263798.3	37	c.912	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595799	0.66332	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57273	0.41	4.64	3.7	0.42460	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34338	N	0.004057	T	0.60470	0.2271	L	0.52573	1.65	0.43156	D	0.994931	D	0.62365	0.991	P	0.62382	0.901	T	0.60860	-0.7179	10	0.49607	T	0.09	-11.093	10.361	0.43994	0.0959:0.0:0.9041:0.0	.	304	Q06418	TYRO3_HUMAN	F	236;304	ENSP00000263798:L304F	ENSP00000263798:L304F	L	+	3	2	TYRO3	39646978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.453000	0.52978	2.417000	0.82017	0.655000	0.94253	TTG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	protein_coding	OTTHUMT00000252693.2	G		-		41859686	1	no_errors	ENST00000263798	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41859686	G	T	41859686	3	4	76	1	0	0	0	0	1	0	0	0	16821	1339	47	3	938	3	TYRO3	15	41859686	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	759787	41859686	60671706	112	4146											
MAP1A	4130	genome.wustl.edu	37	chr15	43815018	43815018	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccaagaaggaggagaagagGaaagataccaaacctgagct	13	7	0	5			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr15:43815018G>T	ENST00000300231.5	+	4	1797	c.1347G>T	c.(1345-1347)agG>agT	p.R449S	MAP1A_ENST00000382031.1_Missense_Mutation_p.R687S|MAP1A_ENST00000399453.1_Missense_Mutation_p.R449S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	449	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	aggagaagaggaaAGATACCA	0.453																																																	0								ENSG00000166963						36	36	36					15																	43815018		1916	4125	6041	MAP1A	SO:0001583	missense	0			-	HGNC	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1347G>T	15.37:g.43815018G>T	ENSP00000300231:p.Arg449Ser	Somatic	0	35	0		0.61599154991593	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP							NULL	p.R449S	ENST00000300231.5	37	c.1347	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332015	0.24167	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.19669	2.13;2.13;2.13	5.5	4.57	0.56435	.	0.000000	0.37857	N	0.001901	T	0.25158	0.0611	M	0.65975	2.015	0.35541	D	0.803047	P	0.35272	0.493	B	0.34242	0.178	T	0.30909	-0.9962	10	0.45353	T	0.12	-9.0091	14.8374	0.70194	0.0697:0.0:0.9303:0.0	.	449	P78559	MAP1A_HUMAN	S	687;449;449;449	ENSP00000371462:R687S;ENSP00000382380:R449S;ENSP00000300231:R449S	ENSP00000300231:R449S	R	+	3	2	MAP1A	41602310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.986000	0.56937	2.880000	0.98712	0.650000	0.86243	AGG	-	NULL		0.453	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	protein_coding	OTTHUMT00000132894.5	G	NM_002373	-		43815018	1	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43815018	G	T	43815018	3	4	76	1	0	0	0	0	1	0	0	0	9229	1165	41	3	1349	3	MAP1A	15	43815018	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1955332	43815018	58716374	113	4147											
GLDN	342035	genome.wustl.edu	37	chr15	51696485	51696485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatttcagatttgaatttgGccaggaaacatcccaaactc	6	9	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr15:51696485G>T	ENST00000335449.6	+	10	1246	c.1190G>T	c.(1189-1191)gGc>gTc	p.G397V	GLDN_ENST00000396399.2_Missense_Mutation_p.G273V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	397	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTTGAATTTGGCCAGGAAACA	0.353																																																	0								ENSG00000186417						131	141	137					15																	51696485		2196	4293	6489	GLDN	SO:0001583	missense	0			-	HGNC	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1190G>T	15.37:g.51696485G>T	ENSP00000335196:p.Gly397Val	Somatic	0	61	0		0.61599154991593	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6UXZ7|Q7Z359	Missense_Mutation	SNP							pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.G397V	ENST00000335449.6	37	c.1190	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643705	0.29246	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90324	-2.65;-2.65	5.71	2.65	0.31530	Olfactomedin-like (3);	0.167970	0.28262	N	0.015987	T	0.82075	0.4958	L	0.29908	0.895	0.53688	D	0.999977	P	0.40360	0.714	B	0.40782	0.34	T	0.76661	-0.2877	10	0.31617	T	0.26	.	4.2602	0.10737	0.3127:0.3334:0.354:0.0	.	397	Q6ZMI3	GLDN_HUMAN	V	397;273;273	ENSP00000335196:G397V;ENSP00000379681:G273V	ENSP00000335196:G397V	G	+	2	0	GLDN	49483777	0.067000	0.21026	1.000000	0.80357	0.776000	0.43924	0.518000	0.22847	1.423000	0.47198	0.563000	0.77884	GGC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.353	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	protein_coding	OTTHUMT00000254667.2	G	NM_181789	-		51696485	1	no_errors	ENST00000335449	ensembl	human	known	74_37	missense	SNP	0.925	T	T	51696485	G	T	51696485	3	4	76	1	0	0	0	0	1	0	0	0	6436	1203	42	3	1228	3	GLDN	15	51696485	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	7881467	51696485	50834907	114	4148											
PKD1	5310	genome.wustl.edu	37	chr16	2153897	2153897	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtggatgaggtctcCtgcagacatgcgtgaggtca	16	9	2	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr16:2153897C>A	ENST00000262304.4	-	23	8370		c.e23-1		PKD1_ENST00000423118.1_Splice_Site|PKD1_ENST00000561991.1_Splice_Site	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGAGGTCTCCTGCAGACATG	0.662																																																	0								ENSG00000008710						10	9	10					16																	2153897		2139	4244	6383	PKD1	SO:0001630	splice_region_variant	0			-	HGNC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8162-1G>T	16.37:g.2153897C>A		Somatic	0	41	0		0.61599154991593	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q15140|Q15141	Splice_Site	SNP							-	e23-1	ENST00000262304.4	37	c.8162-1	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	.	12.57	1.977743	0.34848	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9217	0.86166	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1	2093898	1.000000	0.71417	0.495000	0.27527	0.117000	0.20001	4.137000	0.58010	2.207000	0.71202	0.484000	0.47621	.	-	-		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	C		-	Intron	2153897	-1	no_errors	ENST00000262304	ensembl	human	known	74_37	splice_site	SNP	0.998	A	A	2153897	C	A	2153897	5	1	76	1	0	0	0	0	0	0	1	0	11965	695	24	3	4846	3	PKD1	16	2153897	Splice_Site	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		2153897	88200856	115	4149											
ZNF174	7727	genome.wustl.edu	37	chr16	3458702	3458702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactgtgggaaaagcttcaCgtggaattcagagctgaaga	13	6	2	4	rs533699877		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr16:3458702C>A	ENST00000268655.4	+	3	1592	c.1007C>A	c.(1006-1008)aCg>aAg	p.T336K	ZNF174_ENST00000571936.1_Missense_Mutation_p.T336K	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	336					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AAAAGCTTCACGTGGAATTCA	0.527																																																	0								ENSG00000103343						61	63	62					16																	3458702		2197	4300	6497	ZNF174	SO:0001583	missense	0			-	HGNC	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1007C>A	16.37:g.3458702C>A	ENSP00000268655:p.Thr336Lys	Somatic	0	39	0		0.61599154991593	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q53Y68|Q9BQ34	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T336K	ENST00000268655.4	37	c.1007	CCDS10504.1	16	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481838	0.26598	.	.	ENSG00000103343	ENST00000268655	T	0.00976	5.48	5.26	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.137517	0.33980	N	0.004370	T	0.00580	0.0019	N	0.11845	0.185	0.09310	N	0.999996	B	0.34241	0.444	B	0.32805	0.153	T	0.51474	-0.8701	10	0.24483	T	0.36	.	3.7943	0.08733	0.1715:0.576:0.1651:0.0873	.	336	Q15697	ZN174_HUMAN	K	336	ENSP00000268655:T336K	ENSP00000268655:T336K	T	+	2	0	ZNF174	3398703	0.000000	0.05858	0.910000	0.35882	0.011000	0.07611	-0.405000	0.07196	1.576000	0.49790	-0.182000	0.12963	ACG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	protein_coding	OTTHUMT00000251510.1	C	NM_003450	-		3458702	1	no_errors	ENST00000268655	ensembl	human	known	74_37	missense	SNP	0.036	A	A	3458702	C	A	3458702	3	1	76	1	0	0	0	0	1	0	0	0	17751	536	19	3	1101	3	ZNF174	16	3458702	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	1304805	3458702	86896051	116	4150											
MAZ	4150	genome.wustl.edu	37	chr16	29819035	29819035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaagccctaccagtgccCggtgtgccagcagcgcttca	12	15	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr16:29819035C>T	ENST00000322945.6	+	2	1094	c.929C>T	c.(928-930)cCg>cTg	p.P310L	AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.P310L|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000545521.1_Missense_Mutation_p.P287L|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.15_ENST00000566537.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	310					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TACCAGTGCCCGGTGTGCCAG	0.617																																					Colon(72;875 1167 15364 30899 37091)												0								ENSG00000103495						60	65	63					16																	29819035		2132	4250	6382	MAZ	SO:0001583	missense	0			-	HGNC	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.929C>T	16.37:g.29819035C>T	ENSP00000313362:p.Pro310Leu	Somatic	0	44	0		0.61599154991593	494	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P310L	ENST00000322945.6	37	c.929	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313221	0.40895	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.27256	3.22;3.22;1.68	3.12	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065681	0.64402	D	0.000009	T	0.33059	0.0850	L	0.33137	0.985	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.886;1.0	D;D;P;D	0.70935	0.971;0.971;0.595;0.951	T	0.03503	-1.1030	10	0.41790	T	0.15	-6.8825	7.8686	0.29552	0.247:0.753:0.0:0.0	.	287;75;310;310	C6G496;Q59GP8;P56270;G5E927	.;.;MAZ_HUMAN;.	L	287;310;310;86	ENSP00000443956:P287L;ENSP00000313362:P310L;ENSP00000219782:P310L	ENSP00000219782:P310L	P	+	2	0	MAZ	29726536	0.892000	0.30473	0.995000	0.50966	0.014000	0.08584	1.851000	0.39338	1.464000	0.47987	0.442000	0.29010	CCG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	protein_coding	OTTHUMT00000435536.1	C	NM_002383	-		29819035	1	no_errors	ENST00000219782	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29819035	C	T	29819035	3	4	76	1	0	0	0	0	1	0	0	0	9342	652	23	1	935	1	MAZ	16	29819035	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	26360333	29819035	60535718	117	4151											
VPS4A	27183	genome.wustl.edu	37	chr16	69352829	69352829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcattttgccaatcaaattCccacacttgttcacaggtga	6	11	3	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr16:69352829C>A	ENST00000254950.11	+	5	603	c.447C>A	c.(445-447)ttC>ttA	p.F149L	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.F173L	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CAATCAAATTCCCACACTTGT	0.562																																																	0								ENSG00000132612						110	128	122					16																	69352829		2053	4222	6275	VPS4A	SO:0001583	missense	0			-	HGNC	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.447C>A	16.37:g.69352829C>A	ENSP00000254950:p.Phe149Leu	Somatic	0	50	0		0.61599154991593	265	0.75	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.F149L	ENST00000254950.11	37	c.447	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418180	0.62622	.	.	ENSG00000132612	ENST00000254950	D	0.94862	-3.54	6.17	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.71920	2.185	0.80722	D	1	B	0.31705	0.336	B	0.26517	0.07	D	0.88903	0.3354	10	0.59425	D	0.04	-26.8316	11.2496	0.49017	0.0:0.7967:0.0:0.2033	.	149	Q9UN37	VPS4A_HUMAN	L	149	ENSP00000254950:F149L	ENSP00000254950:F149L	F	+	3	2	VPS4A	67910330	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.512000	0.22755	0.467000	0.27218	-0.150000	0.13652	TTC	-	superfamily_P-loop_NTPase		0.562	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	protein_coding	OTTHUMT00000430563.3	C	NM_013245	-		69352829	1	no_errors	ENST00000254950	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69352829	C	A	69352829	3	1	76	1	0	0	0	0	1	0	0	0	17219	854	30	3	465	3	VPS4A	16	69352829	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	39533794	69352829	21001924	118	4152											
VPS4A	27183	genome.wustl.edu	37	chr16	69353364	69353364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctacctggccaaagccGtggcaacagaggccaacaac	9	14	0	1	rs573192094		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr16:69353364G>A	ENST00000254950.11	+	6	694	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.V204M	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GGCCAAAGCCGTGGCAACAGA	0.582																																																	0								ENSG00000132612						55	60	59					16																	69353364		2019	4178	6197	VPS4A	SO:0001583	missense	0			-	HGNC	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.538G>A	16.37:g.69353364G>A	ENSP00000254950:p.Val180Met	Somatic	0	65	0		0.61599154991593	143	45	117	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54		Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.V180M	ENST00000254950.11	37	c.538	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.208627	0.95069	.	.	ENSG00000132612	ENST00000254950	D	0.95307	-3.67	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97286	0.9921	10	0.87932	D	0	-29.0773	20.2159	0.98296	0.0:0.0:1.0:0.0	.	180	Q9UN37	VPS4A_HUMAN	M	180	ENSP00000254950:V180M	ENSP00000254950:V180M	V	+	1	0	VPS4A	67910865	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	9.858000	0.99539	2.882000	0.98803	0.655000	0.94253	GTG	-	pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.582	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	protein_coding	OTTHUMT00000430563.3	G	NM_013245	-		69353364	1	no_errors	ENST00000254950	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69353364	G	A	69353364	3	1	76	1	0	0	0	0	1	0	0	0	17219	1145	40	1	560	1	VPS4A	16	69353364	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	535	69353364	21001389	119	4153											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76513331	76513331	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaagctatctatgagcagtCatgtgaagcctataagcaca	8	8	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr16:76513331C>T	ENST00000476707.1	+	11	1926	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S544L|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S592L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S520L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	593	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						TATGAGCAGTCATGTGAAGCC	0.333																																																	0								ENSG00000152910						107	115	112					16																	76513331		2198	4298	6496	CNTNAP4	SO:0001583	missense	0			-	HGNC	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.1787C>T	16.37:g.76513331C>T	ENSP00000417628:p.Ser596Leu	Somatic	0	60	0		0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	E9PFZ6|Q86YZ7	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S592L	ENST00000476707.1	37	c.1775		16	.	.	.	.	.	.	.	.	.	.	C	32	5.158952	0.94686	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.57	5.57	0.84162	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	0.000000	0.33916	N	0.004437	T	0.64182	0.2575	.	.	.	0.80722	D	1	D;P;D;D	0.89917	1.0;0.947;1.0;1.0	D;D;D;D	0.91635	0.999;0.913;0.999;0.999	T	0.65985	-0.6035	9	0.87932	D	0	.	19.3573	0.94420	0.0:1.0:0.0:0.0	.	520;596;568;593	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	592;544;520;596	ENSP00000306893:S592L;ENSP00000439733:S544L;ENSP00000418741:S520L;ENSP00000417628:S596L	ENSP00000306893:S592L	S	+	2	0	CNTNAP4	75070832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.589000	0.82641	2.902000	0.99343	0.650000	0.86243	TCA	-	superfamily_Fibrinogen_a/b/g_C_dom		0.333	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	C	NM_033401	-		76513331	1	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76513331	C	T	76513331	3	4	76	1	0	0	0	0	1	0	0	0	3651	838	29	2	1837	2	CNTNAP4	16	76513331	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	7159967	76513331	13841422	120	4154											
MYH13	8735	genome.wustl.edu	37	chr17	10248638	10248638	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgtggtggttgaaaaactGttgcagtttctcattggtga	12	5	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:10248638G>C	ENST00000418404.3	-	14	1628	c.1465C>G	c.(1465-1467)Cag>Gag	p.Q489E	MYH13_ENST00000252172.4_Missense_Mutation_p.Q489E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	489	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGAAAAACTGTTGCAGTTTC	0.463																																																	0								ENSG00000006788						154	138	144					17																	10248638		2203	4297	6500	MYH13	SO:0001583	missense	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1465C>G	17.37:g.10248638G>C	ENSP00000404570:p.Gln489Glu	Somatic	0	154	0		0.61599154991593	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	287	10.87	O95252|Q9P0U8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q489E	ENST00000418404.3	37	c.1465	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698000	0.88830	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D;D	0.89196	-2.48;-2.14	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.96611	0.8894	H	0.95950	3.745	0.49582	D	0.999803	P	0.35481	0.504	P	0.60117	0.869	D	0.97357	0.9967	9	0.87932	D	0	.	17.6701	0.88214	0.0:0.0:1.0:0.0	.	489	Q9UKX3	MYH13_HUMAN	E	489;164	ENSP00000252172:Q489E;ENSP00000404570:Q164E	ENSP00000252172:Q489E	Q	-	1	0	MYH13	10189363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.450000	0.97607	2.471000	0.83476	0.655000	0.94253	CAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.463	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	G	NM_003802	-		10248638	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10248638	G	C	10248638	3	2	76	1	0	0	0	0	1	0	0	0	10034	1386	48	4	4459	4	MYH13	17	10248638	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09		10248638	70946572	121	4155											
MYH4	4622	genome.wustl.edu	37	chr17	10351814	10351814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttccaccctctgcaatttGctctgtcaggtcagaaatct	6	13	5	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:10351814G>T	ENST00000255381.2	-	33	4665	c.4555C>A	c.(4555-4557)Caa>Aaa	p.Q1519K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1519					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						TCTGCAATTTGCTCTGTCAGG	0.363																																																	0								ENSG00000264424						103	98	99					17																	10351814		2202	4300	6502	MYH4	SO:0001583	missense	0			-	HGNC		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.4555C>A	17.37:g.10351814G>T	ENSP00000255381:p.Gln1519Lys	Somatic	0	34	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	72	19.10		Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1519K	ENST00000255381.2	37	c.4555	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645060	0.87859	.	.	ENSG00000141048	ENST00000255381	D	0.83163	-1.69	5.49	5.49	0.81192	Myosin tail (1);	0.224065	0.22179	U	0.063533	D	0.93736	0.7998	H	0.95712	3.71	0.54753	D	0.999983	D	0.63046	0.992	D	0.63113	0.911	D	0.95044	0.8181	10	0.87932	D	0	.	19.7383	0.96217	0.0:0.0:1.0:0.0	.	1519	Q9Y623	MYH4_HUMAN	K	1519	ENSP00000255381:Q1519K	ENSP00000255381:Q1519K	Q	-	1	0	MYH4	10292539	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.784000	0.99039	2.742000	0.94016	0.655000	0.94253	CAA	-	pfam_Myosin_tail,superfamily_tRNA-bd_arm		0.363	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533	-		10351814	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10351814	G	T	10351814	3	4	76	1	0	0	0	0	1	0	0	0	10039	1328	46	3	1296	3	MYH4	17	10351814	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	103176	10351814	70843396	122	4156											
SUPT6H	6830	genome.wustl.edu	37	chr17	27002030	27002030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaatgtcagatgacgaggacGatgacgaggaggaatatggc	15	5	1	3	rs376272646		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:27002030G>T	ENST00000314616.6	+	5	671	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D130Y|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	130	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D130Y(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGACGAGGACGATGACGAGGA	0.498																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000109111						92	84	87					17																	27002030		2203	4300	6503	SUPT6H	SO:0001583	missense	0			-	HGNC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.388G>T	17.37:g.27002030G>T	ENSP00000319104:p.Asp130Tyr	Somatic	0	68	0		0.61599154991593	131	0.75	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP							pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D130Y	ENST00000314616.6	37	c.388	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161209	0.57368	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.41	5.41	0.78517	.	0.046129	0.85682	D	0.000000	T	0.74809	0.3765	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	P	0.56088	0.791	T	0.77446	-0.2585	9	0.87932	D	0	-24.5167	19.558	0.95361	0.0:0.0:1.0:0.0	.	130	Q7KZ85	SPT6H_HUMAN	Y	130	.	ENSP00000319104:D130Y	D	+	1	0	SUPT6H	24026157	1.000000	0.71417	0.961000	0.40146	0.628000	0.37860	7.049000	0.76613	2.697000	0.92050	0.655000	0.94253	GAT	-	pirsf_TF_Spt6		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	G	NM_003170	-		27002030	1	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27002030	G	T	27002030	3	4	76	1	0	0	0	0	1	0	0	0	15407	1058	37	3	402	3	SUPT6H	17	27002030	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	16650216	27002030	54193180	123	4157											
TIAF1	9220	genome.wustl.edu	37	chr17	27401040	27401040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agagggtggggtgggggctgGaggtgcggatggtccacaca	22	6	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:27401040G>T	ENST00000359450.6	-	1	4835	c.178C>A	c.(178-180)Cca>Aca	p.P60T	MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.P60T	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	60					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGGGGGCTGGAGGTGCGGAT	0.557																																																	0								ENSG00000221995						94	78	84					17																	27401040		2203	4300	6503	TIAF1	SO:0001583	missense	0			-	HGNC	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.178C>A	17.37:g.27401040G>T	ENSP00000352424:p.Pro60Thr	Somatic	0	47	0		0.61599154991593	83	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A2RRE2|Q6PEG2	Missense_Mutation	SNP							NULL	p.P60T	ENST00000359450.6	37	c.178	CCDS32599.1	17	.	.	.	.	.	.	.	.	.	.	G	0.780	-0.762789	0.02996	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	4.83	-7.46	0.01369	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.32829	0.386	B	0.28011	0.085	T	0.30208	-0.9986	8	0.87932	D	0	.	5.2903	0.15723	0.5599:0.0:0.2133:0.2268	.	60	O95411	TIAF1_HUMAN	T	60	.	ENSP00000386130:P60T	P	-	1	0	TIAF1	24425166	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.017000	0.12590	-0.990000	0.03481	-0.982000	0.02568	CCA	-	NULL		0.557	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAF1	protein_coding	OTTHUMT00000372394.2	G	NM_004740	-		27401040	-1	no_errors	ENST00000359450	ensembl	human	known	74_37	missense	SNP	0.000	T	T	27401040	G	T	27401040	3	4	76	1	0	0	0	0	1	0	0	0	15895	1174	41	3	173	3	TIAF1	17	27401040	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	399010	27401040	53794170	124	4158											
ARHGAP27	201176	genome.wustl.edu	37	chr17	43472839	43472839	+	Missense_Mutation	SNP	T	T	G													cagtcagtgcggcgggaagaTgtccgcgcactgctgcagga							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:43472839T>G	ENST00000428638.1	-	17	2652	c.2653A>C	c.(2653-2655)Atc>Ctc	p.I885L	ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.I663L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.I544L|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.I863L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.I858L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.I517L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.I544L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	885	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGCGGGAAGATGTCCGCGCAC	0.687											OREG0024481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000159314						23	19	21					17																	43472839		2184	4267	6451	ARHGAP27	SO:0001583	missense	0			-	HGNC	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2653A>C	17.37:g.43472839T>G	ENSP00000403323:p.Ile885Leu	Somatic	0	29	0	916	0.61599154991593	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	18	45.71	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.I885L	ENST00000428638.1	37	c.2653		17	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204940	0.38905	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	4.45	3.35	0.38373	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.225301	0.36778	N	0.002415	T	0.23249	0.0562	L	0.53249	1.67	0.80722	D	1	B;P	0.47962	0.069;0.903	B;D	0.72075	0.167;0.976	T	0.01212	-1.1417	10	0.28530	T	0.3	.	8.3321	0.32193	0.0:0.0965:0.0:0.9035	.	858;885	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	L	663;544;517;863;885;858;544	ENSP00000432762:I663L;ENSP00000366121:I544L;ENSP00000431591:I517L;ENSP00000433942:I863L;ENSP00000403323:I885L;ENSP00000409330:I858L;ENSP00000408235:I544L	ENSP00000366121:I544L	I	-	1	0	ARHGAP27	40828622	1.000000	0.71417	0.997000	0.53966	0.300000	0.27592	1.299000	0.33424	0.729000	0.32403	0.443000	0.29094	ATC	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.687	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	protein_coding		T	NM_199282	-		43472839	-1	no_errors	ENST00000428638	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43472839	T	G	43472839	3	3	76	1	0	0	0	0	1	0	0	0	876	1464	51	5	20	5	ARHGAP27	17	43472839	Missense_Mutation	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	16071799	43472839	37722371	125	4159	57	2									
ARHGAP27	201176	genome.wustl.edu	37	chr17	43472842	43472842	+	Frame_Shift_Del	DEL	C	C	-													tcagtgcggcgggaagatgtCcgcgcactgctgcaggatga					rs547059220	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:43472842delC	ENST00000428638.1	-	17	2649	c.2650delG	c.(2650-2652)gacfs	p.D884fs	ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Frame_Shift_Del_p.D662fs|ARHGAP27_ENST00000376922.2_Frame_Shift_Del_p.D543fs|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000532891.2_Frame_Shift_Del_p.D862fs|ARHGAP27_ENST00000442348.1_Frame_Shift_Del_p.D857fs|ARHGAP27_ENST00000528384.1_Frame_Shift_Del_p.D516fs|ARHGAP27_ENST00000455881.1_Frame_Shift_Del_p.D543fs			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	884	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGGAAGATGTCCGCGCACTGC	0.692											OREG0024481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000159314						25	20	22					17																	43472842		2183	4272	6455	ARHGAP27	SO:0001589	frameshift_variant	0				HGNC	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2650delG	17.37:g.43472842delC	ENSP00000403323:p.Asp884fs	Somatic	0	30	0	916	0.61599154991593	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Frame_Shift_Del	DEL							pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.D884fs	ENST00000428638.1	37	c.2650		17																																																																																			-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	protein_coding		C	NM_199282			43472842	-1	no_errors	ENST00000428638	ensembl	human	known	74_37	frame_shift_del	DEL	0.234	-	-	43472842	C	-	43472842	7	5	76	1	0	1	0	1	0	0	0	0	876	855	30	0	23	0	ARHGAP27	17	43472842	Frame_Shift_Del	DEL	C	TCGA-DX-A6YQ-01A-12D-A33E-09	3	43472842	37722368	126	4160	57	2									
COL1A1	1277	genome.wustl.edu	37	chr17	48271370	48271370	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggcaccaggtgggcctggGggtccggggcgaccatcttg	19	12	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:48271370G>T	ENST00000225964.5	-	25	1819	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	567	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GTGGGCCTGGGGGTCCGGGGC	0.617			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0								ENSG00000108821						51	55	54					17																	48271370		2203	4300	6503	COL1A1	SO:0001819	synonymous_variant	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1701C>A	17.37:g.48271370G>T		Somatic	0	39	0		0.61599154991593	3491	0.09	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P567	ENST00000225964.5	37	c.1701	CCDS11561.1	17																																																																																			-	NULL		0.617	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	G		-		48271370	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	silent	SNP	0.977	T	T	48271370	G	T	48271370	2	4	76	1	0	0	0	0	0	0	0	1	3679	1219	43	3		3	COL1A1	17	48271370	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	4798528	48271370	32923840	127	4161											
MTMR4	9110	genome.wustl.edu	37	chr17	56572454	56572454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgctggatcacatccgtggGaaaggggagtccatcatcat	12	9	3	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:56572454G>T	ENST00000323456.5	-	16	3173	c.3049C>A	c.(3049-3051)Ccc>Acc	p.P1017T	MTMR4_ENST00000579925.1_Missense_Mutation_p.P960T	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1017					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACATCCGTGGGAAAGGGGAGT	0.527																																																	0								ENSG00000108389						206	177	186					17																	56572454		2203	4300	6503	MTMR4	SO:0001583	missense	0			-	HGNC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3049C>A	17.37:g.56572454G>T	ENSP00000325285:p.Pro1017Thr	Somatic	0	51	0		0.61599154991593	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP							pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.P1017T	ENST00000323456.5	37	c.3049	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498055	0.44455	.	.	ENSG00000108389	ENST00000323456	D	0.93247	-3.19	5.58	5.58	0.84498	.	0.050137	0.85682	D	0.000000	D	0.94971	0.8373	L	0.50333	1.59	0.40193	D	0.977429	D	0.76494	0.999	D	0.65684	0.937	D	0.92981	0.6406	10	0.19590	T	0.45	.	18.5537	0.91075	0.0:0.0:1.0:0.0	.	1017	Q9NYA4	MTMR4_HUMAN	T	1017	ENSP00000325285:P1017T	ENSP00000325285:P1017T	P	-	1	0	MTMR4	53927453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.795000	0.69074	2.627000	0.88993	0.555000	0.69702	CCC	-	NULL		0.527	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	protein_coding	OTTHUMT00000444721.1	G	NM_004687	-		56572454	-1	no_errors	ENST00000323456	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56572454	G	T	56572454	3	4	76	1	0	0	0	0	1	0	0	0	9948	1174	41	3	554	3	MTMR4	17	56572454	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	8301084	56572454	24622756	128	4162											
KCNJ16	3773	genome.wustl.edu	37	chr17	68128480	68128480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttatcttatattctctcGtggttgatatttggctctgt	7	7	4	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:68128480G>A	ENST00000589377.1	+	2	415	c.252G>A	c.(250-252)tcG>tcA	p.S84S	KCNJ16_ENST00000392671.1_Silent_p.S84S|KCNJ16_ENST00000283936.1_Silent_p.S84S|KCNJ16_ENST00000392670.1_Silent_p.S84S|KCNJ16_ENST00000586462.1_Silent_p.S123S|KCNJ16_ENST00000585558.1_Silent_p.S119S	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	84					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ATATTCTCTCGTGGTTGATAT	0.413																																																	0								ENSG00000153822						236	207	217					17																	68128480		2203	4300	6503	KCNJ16	SO:0001819	synonymous_variant	0			-	HGNC	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.252G>A	17.37:g.68128480G>A		Somatic	0	60	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	12	70.00		Silent	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.S84	ENST00000589377.1	37	c.252	CCDS11687.1	17																																																																																			-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.413	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	protein_coding	OTTHUMT00000450880.1	G	NM_018658	-		68128480	1	no_errors	ENST00000283936	ensembl	human	known	74_37	silent	SNP	0.794	A	A	68128480	G	A	68128480	2	1	76	1	0	0	0	0	0	0	0	1	8052	1132	40	1		1	KCNJ16	17	68128480	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	11556026	68128480	13066730	129	4163											
ITGB4	3691	genome.wustl.edu	37	chr17	73750863	73750863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actcgaccacactgcccaggGactactccaccctcacctcc	5	21	1	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr17:73750863G>T	ENST00000200181.3	+	34	4712	c.4525G>T	c.(4525-4527)Gac>Tac	p.D1509Y	ITGB4_ENST00000449880.2_Missense_Mutation_p.D1439Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.D1439Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.D1439Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.D1439Y|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1509					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGCCCAGGGACTACTCCAC	0.617																																																	0								ENSG00000132470						310	189	230					17																	73750863		2203	4300	6503	ITGB4	SO:0001583	missense	0			-	HGNC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4525G>T	17.37:g.73750863G>T	ENSP00000200181:p.Asp1509Tyr	Somatic	0	28	0		0.61599154991593	9	52.63	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP							pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.D1509Y	ENST00000200181.3	37	c.4525	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601438	0.46423	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.75704	-0.96;-0.89;-0.89	5.39	5.39	0.77823	.	0.300274	0.26855	N	0.022156	T	0.80486	0.4632	L	0.32530	0.975	0.80722	D	1	B;D;B	0.89917	0.004;1.0;0.02	B;D;B	0.85130	0.008;0.997;0.017	T	0.82424	-0.0464	10	0.87932	D	0	.	15.8645	0.79055	0.0:0.0:1.0:0.0	.	1439;1439;1509	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Y	1509;1439;1439	ENSP00000200181:D1509Y;ENSP00000344079:D1439Y;ENSP00000400217:D1439Y	ENSP00000200181:D1509Y	D	+	1	0	ITGB4	71262458	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.020000	0.64066	2.517000	0.84864	0.561000	0.74099	GAC	-	pirsf_Integrin_bsu-4		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	protein_coding	OTTHUMT00000448334.1	G		-		73750863	1	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73750863	G	T	73750863	3	4	76	1	0	0	0	0	1	0	0	0	7899	1174	41	3	4655	3	ITGB4	17	73750863	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	5622383	73750863	7444347	130	4164											
NEDD4L	23327	genome.wustl.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																																	0								ENSG00000049759																																			NEDD4L	SO:0001651	inframe_deletion	0				HGNC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del	Somatic	0	38	0		0.61599154991593	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.P194in_frame_del	ENST00000400345.3	37	c.570_572	CCDS45872.1	18																																																																																			-	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom		0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	protein_coding	OTTHUMT00000448749.1	TCC				55992286	1	no_errors	ENST00000400345	ensembl	human	known	74_37	in_frame_del	DEL	0.796:0.984:0.981	-	-	55992286	TCC	-	55992284	7	5	76	1	0	1	0	1	0	0	0	0	10313	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-DX-A6YQ-01A-12D-A33E-09		55992284	22084964	131	4165											
MC4R	4160	genome.wustl.edu	37	chr18	58038604	58038604	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaatatctgctagacaagtCacaaaggcctcccaggggat	9	10	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr18:58038604C>A	ENST00000299766.3	-	1	1397	c.979G>T	c.(979-981)Gac>Tac	p.D327Y		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	327					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CTAGACAAGTCACAAAGGCCT	0.418																																																	0								ENSG00000166603						119	117	118					18																	58038604		2203	4300	6503	MC4R	SO:0001583	missense	0			-	HGNC	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.979G>T	18.37:g.58038604C>A	ENSP00000299766:p.Asp327Tyr	Somatic	0	36	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.D327Y	ENST00000299766.3	37	c.979	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	C	8.294	0.818456	0.16607	.	.	ENSG00000166603	ENST00000299766	T	0.58940	0.3	5.65	4.78	0.61160	.	0.355818	0.28198	N	0.016231	T	0.48241	0.1489	L	0.36672	1.1	0.39559	D	0.969103	B	0.23128	0.08	B	0.23150	0.044	T	0.51212	-0.8734	10	0.62326	D	0.03	.	12.3576	0.55184	0.0:0.9198:0.0:0.0802	.	327	P32245	MC4R_HUMAN	Y	327	ENSP00000299766:D327Y	ENSP00000299766:D327Y	D	-	1	0	MC4R	56189584	1.000000	0.71417	0.999000	0.59377	0.435000	0.31806	3.123000	0.50453	1.636000	0.50526	-0.136000	0.14681	GAC	-	prints_Mcort_rcpt_4		0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	protein_coding	OTTHUMT00000256139.1	C	NM_005912	-		58038604	-1	no_errors	ENST00000299766	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58038604	C	A	58038604	3	1	76	1	0	0	0	0	1	0	0	0	9368	826	29	3	23	3	MC4R	18	58038604	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	2046320	58038604	20038644	132	4166											
CLPP	8192	genome.wustl.edu	37	chr19	6362546	6362546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatccacatgtacatcaaCagccctggtgagcagggtct	9	14	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:6362546C>A	ENST00000245816.4	+	3	483	c.360C>A	c.(358-360)aaC>aaA	p.N120K	CTB-180A7.3_ENST00000595644.1_RNA|CLPP_ENST00000596605.1_Missense_Mutation_p.N33K|CLPP_ENST00000596149.1_Missense_Mutation_p.N33K	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	120					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						TGTACATCAACAGCCCTGGTG	0.582																																																	0								ENSG00000125656						135	103	114					19																	6362546		2203	4300	6503	CLPP	SO:0001583	missense	0			-	HGNC	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"ATPases / AAA-type"	2084	protein-coding gene	gene with protein product	"ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"	601119	"ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog", "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)", "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.360C>A	19.37:g.6362546C>A	ENSP00000245816:p.Asn120Lys	Somatic	0	37	0		0.61599154991593	336	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2R4W5	Missense_Mutation	SNP							pfam_ClpP/TepA,prints_ClpP	p.N120K	ENST00000245816.4	37	c.360	CCDS12162.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273317	0.80580	.	.	ENSG00000125656	ENST00000245816	.	.	.	4.69	-0.125	0.13519	.	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86389	0.1734	9	0.87932	D	0	-53.6226	9.2258	0.37405	0.0:0.5934:0.0:0.4066	.	120	Q16740	CLPP_HUMAN	K	120	.	ENSP00000245816:N120K	N	+	3	2	CLPP	6313546	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.235000	0.43044	0.144000	0.18951	0.563000	0.77884	AAC	-	pfam_ClpP/TepA,prints_ClpP		0.582	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPP	protein_coding	OTTHUMT00000452984.1	C	NM_006012	-		6362546	1	no_errors	ENST00000245816	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6362546	C	A	6362546	3	1	76	1	0	0	0	0	1	0	0	0	3554	477	17	3	370	3	CLPP	19	6362546	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		6362546	52766437	133	4167											
CD209	30835	genome.wustl.edu	37	chr19	7808042	7808042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaagattacatttgtcGtcgttccagccattgccact	8	11	0	1	rs553008652	byFrequency	TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:7808042G>A	ENST00000315599.7	-	7	1120	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	CD209_ENST00000593821.1_Silent_p.D230D|CD209_ENST00000301357.8_Silent_p.D230D|CD209_ENST00000394173.4_Silent_p.D205D|CD209_ENST00000593660.1_Silent_p.D296D|CD209_ENST00000601951.1_Silent_p.D342D|CD209_ENST00000354397.6_Silent_p.D360D|CD209_ENST00000602261.1_Silent_p.D274D|CD209_ENST00000394161.5_Silent_p.D130D|CD209_ENST00000204801.8_Silent_p.D322D|CD209_ENST00000315591.8_Silent_p.D342D	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	366	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TACATTTGTCGTCGTTCCAGC	0.522													a|||	2	0.000399361	0	0	5008	,	,		17546	0		0	False		,,,				2504	0.002																0								ENSG00000090659						234	219	224					19																	7808042		2203	4300	6503	CD209	SO:0001819	synonymous_variant	0			-	HGNC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1098C>T	19.37:g.7808042G>A		Somatic	0	85	0		0.61599154991593	69	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	44	51.11	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.D366	ENST00000315599.7	37	c.1098	CCDS12186.1	19																																																																																			-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.522	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD209	protein_coding	OTTHUMT00000462241.1	G	NM_021155	-		7808042	-1	no_errors	ENST00000315599	ensembl	human	known	74_37	silent	SNP	0.003	A	A	7808042	G	A	7808042	2	1	76	1	0	0	0	0	0	0	0	1	2986	1136	40	1		1	CD209	19	7808042	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1445496	7808042	51320941	134	4168											
OR7C1	26664	genome.wustl.edu	37	chr19	14910160	14910160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagaagatggtgtggcTgcagaactgagatagacccc	13	9	0	5			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:14910160T>C	ENST00000248073.2	-	1	863	c.789A>G	c.(787-789)gcA>gcG	p.A263A	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	263					spermatogenesis (GO:0007283)	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(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ATGGTGTGGCTGCAGAACTGA	0.542																																																	0								ENSG00000127530						89	82	84					19																	14910160		2203	4300	6503	OR7C1	SO:0001819	synonymous_variant	0			-	HGNC	X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.789A>G	19.37:g.14910160T>C		Somatic	0	49	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	25	56.14	Q15621|Q6IFP2|Q96R94	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A263	ENST00000248073.2	37	c.789	CCDS12317.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	protein_coding	OTTHUMT00000466519.1	T		-		14910160	-1	no_errors	ENST00000248073	ensembl	human	known	74_37	silent	SNP	0.000	C	C	14910160	T	C	14910160	2	2	76	1	0	0	0	0	0	0	0	1	11219	1567	55	5		5	OR7C1	19	14910160	Silent	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	7102118	14910160	44218823	135	4169											
CPAMD8	27151	genome.wustl.edu	37	chr19	17040028	17040028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggaactcatacttgttGggggtggagatgtggactct	14	6	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:17040028G>A	ENST00000443236.1	-	24	3040	c.3009C>T	c.(3007-3009)ccC>ccT	p.P1003P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	956						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATACTTGTTGGGGGTGGAGA	0.572																																																	0								ENSG00000160111						51	57	55					19																	17040028		2072	4216	6288	CPAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3009C>T	19.37:g.17040028G>A		Somatic	0	63	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	Q8NC09|Q9ULD7	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.P1003	ENST00000443236.1	37	c.3009	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066460	0.20067	.	.	ENSG00000160111	ENST00000443236	T	0.35236	1.32	3.39	-1.86	0.07760	.	0.000000	0.64402	U	0.000011	T	0.34600	0.0903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29671	-1.0004	7	0.87932	D	0	.	1.5758	0.02624	0.1761:0.334:0.3229:0.167	.	.	.	.	L	1014	ENSP00000402505:P1014L	ENSP00000402505:P1014L	P	-	2	0	CPAMD8	16901028	1.000000	0.71417	0.973000	0.42090	0.973000	0.67179	0.868000	0.27982	0.405000	0.25532	-0.182000	0.12963	CCA	-	NULL		0.572	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	G	NM_015692	-		17040028	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	SNP	0.999	A	A	17040028	G	A	17040028	2	1	76	1	0	0	0	0	0	0	0	1	3797	1335	47	2		2	CPAMD8	19	17040028	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	2129868	17040028	42088955	136	4170											
ZNF223	7766	genome.wustl.edu	37	chr19	44571365	44571365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccaaatgtgaagactgtGggaagcgctacaagaggcgc	13	9	0	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:44571365G>T	ENST00000434772.3	+	5	1639	c.1384G>T	c.(1384-1386)Ggg>Tgg	p.G462W	ZNF223_ENST00000591793.1_Missense_Mutation_p.G572W	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	462					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(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGAAGACTGTGGGAAGCGCTA	0.368																																																	0								ENSG00000267022						53	55	54					19																	44571365		2203	4300	6503	ZNF223	SO:0001583	missense	0			-	Uniprot_gn	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1384G>T	19.37:g.44571365G>T	ENSP00000401947:p.Gly462Trp	Somatic	0	49	0		0.61599154991593	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G572W	ENST00000434772.3	37	c.1714	CCDS12635.1	19	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281976	0.59867	.	.	ENSG00000178386	ENST00000434772	T	0.23754	1.89	2.46	1.34	0.21922	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49779	0.1577	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51911	-0.8645	9	0.87932	D	0	.	10.1702	0.42904	0.0:0.2054:0.7946:0.0	.	462	Q9UK11	ZN223_HUMAN	W	462	ENSP00000401947:G462W	ENSP00000401947:G462W	G	+	1	0	ZNF223	49263205	1.000000	0.71417	0.014000	0.15608	0.654000	0.38779	1.947000	0.40293	0.319000	0.23209	0.313000	0.20887	GGG	-	NULL		0.368	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	protein_coding	OTTHUMT00000460469.2	G		-		44571365	1	no_errors	ENST00000591793	ensembl	human	known	74_37	missense	SNP	0.996	T	T	44571365	G	T	44571365	3	4	76	1	0	0	0	0	1	0	0	0	17784	1348	47	3	1398	3	ZNF223	19	44571365	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	27531337	44571365	14557618	137	4171											
ZNF225	7768	genome.wustl.edu	37	chr19	44622636	44622636	+	Splice_Site	SNP	G	G	T													tgacttttcacgttcacaggGcatcaatcactccacagaga							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:44622636G>T	ENST00000262894.6	+	4	424	c.144G>T	c.(142-144)ggG>ggT	p.G48G	ZNF225_ENST00000592780.1_Splice_Site_p.G48G|ZNF225_ENST00000590612.1_Splice_Site_p.G48G	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	48	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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGTTCACAGGGCATCAATCAC	0.383																																																	0								ENSG00000256294						86	83	84					19																	44622636		2203	4300	6503	ZNF225	SO:0001630	splice_region_variant	0			-	HGNC	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.143-1G>T	19.37:g.44622636G>T		Somatic	0	90	0		0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G48	ENST00000262894.6	37	c.144	CCDS46100.1	19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.383	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	protein_coding	OTTHUMT00000460581.1	G		-	Silent	44622636	1	no_errors	ENST00000262894	ensembl	human	known	74_37	silent	SNP	0.001	T	T	44622636	G	T	44622636	5	4	76	1	0	0	0	0	0	0	1	0	17786	1217	42	3	154	3	ZNF225	19	44622636	Splice_Site	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	51271	44622636	14506347	138	4172	58	2									
ZNF225	7768	genome.wustl.edu	37	chr19	44622637	44622637	+	Missense_Mutation	SNP	C	C	T													gacttttcacgttcacagggCatcaatcactccacagagat							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:44622637C>T	ENST00000262894.6	+	4	425	c.145C>T	c.(145-147)Cat>Tat	p.H49Y	ZNF225_ENST00000592780.1_Missense_Mutation_p.H49Y|ZNF225_ENST00000590612.1_Missense_Mutation_p.H49Y	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	49	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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTTCACAGGGCATCAATCACT	0.378																																																	0								ENSG00000256294						87	84	85					19																	44622637		2203	4300	6503	ZNF225	SO:0001583	missense	0			-	HGNC	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.145C>T	19.37:g.44622637C>T	ENSP00000262894:p.His49Tyr	Somatic	0	90	0		0.61599154991593	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H49Y	ENST00000262894.6	37	c.145	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040230	0.19669	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.00724	5.78	1.77	0.707	0.18139	Krueppel-associated box (3);	.	.	.	.	T	0.00468	0.0015	N	0.10945	0.07	0.09310	N	1	P	0.50528	0.936	B	0.43889	0.435	T	0.23119	-1.0197	9	0.02654	T	1	.	4.0899	0.09965	0.0:0.779:0.0:0.221	.	49	Q9UK10	ZN225_HUMAN	Y	49;13	ENSP00000262894:H49Y	ENSP00000262894:H49Y	H	+	1	0	ZNF225	49314477	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.089000	0.11180	0.294000	0.22547	0.555000	0.69702	CAT	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.378	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	protein_coding	OTTHUMT00000460581.1	C		-		44622637	1	no_errors	ENST00000262894	ensembl	human	known	74_37	missense	SNP	0.002	T	T	44622637	C	T	44622637	3	4	76	1	0	0	0	0	1	0	0	0	17786	710	25	2	155	2	ZNF225	19	44622637	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	1	44622637	14506346	139	4173	58	2									
FOSB	2354	genome.wustl.edu	37	chr19	45974168	45974168	+	Frame_Shift_Del	DEL	C	C	-													agtgggcctgggcctgcccgCccagcccgagcccggcctag							TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:45974168delC	ENST00000353609.3	+	2	1000	c.408delC	c.(406-408)cgcfs	p.R136fs	FOSB_ENST00000417353.2_Frame_Shift_Del_p.R136fs|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Frame_Shift_Del_p.R136fs|FOSB_ENST00000590335.1_Frame_Shift_Del_p.R136fs|FOSB_ENST00000586615.1_Frame_Shift_Del_p.R87fs|FOSB_ENST00000585836.1_Frame_Shift_Del_p.R97fs|FOSB_ENST00000591858.1_Frame_Shift_Del_p.R97fs|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592811.1_Frame_Shift_Del_p.R87fs	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	136					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GGCCTGCCCGCCCAGCCCGAG	0.647																																																	0								ENSG00000125740						35	42	40					19																	45974168		2203	4298	6501	FOSB	SO:0001589	frameshift_variant	0				HGNC		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.408delC	19.37:g.45974168delC	ENSP00000245919:p.Arg136fs	Somatic	0	12	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Frame_Shift_Del	DEL							pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.P137fs	ENST00000353609.3	37	c.408	CCDS12664.1	19																																																																																			-	NULL		0.647	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	protein_coding	OTTHUMT00000459561.1	C	NM_006732			45974168	1	no_errors	ENST00000353609	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	45974168	C	-	45974168	7	5	76	1	0	1	0	1	0	0	0	0	5988	726	26	0	414	0	FOSB	19	45974168	Frame_Shift_Del	DEL	C	TCGA-DX-A6YQ-01A-12D-A33E-09	1351531	45974168	13154815	140	4174											
SNRPD2	6633	genome.wustl.edu	37	chr19	46190817	46190817	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacaggcggcccctacttGccggcgatgagcgggttccg	15	14	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:46190817G>T	ENST00000342669.3	-	3	795	c.351C>A	c.(349-351)ggC>ggA	p.G117G	SNRPD2_ENST00000588301.1_Silent_p.G117G|SNRPD2_ENST00000585392.1_Silent_p.G53G|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000587367.1_Silent_p.G107G|SNRPD2_ENST00000588599.1_Silent_p.G107G|SNRPD2_ENST00000391932.3_Silent_p.G107G	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	117					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GCCCCTACTTGCCGGCGATGA	0.522																																																	0								ENSG00000125743						66	61	63					19																	46190817		2203	4300	6503	SNRPD2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.351C>A	19.37:g.46190817G>T		Somatic	0	43	0		0.61599154991593	1039	0.19	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.51	A8K797|J3KPM5|P43330	Silent	SNP							pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.G117	ENST00000342669.3	37	c.351	CCDS33053.1	19																																																																																			-	superfamily_LSM_dom		0.522	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	protein_coding	OTTHUMT00000459648.1	G	NM_004597	-		46190817	-1	no_errors	ENST00000342669	ensembl	human	known	74_37	silent	SNP	1.000	T	T	46190817	G	T	46190817	2	4	76	1	0	0	0	0	0	0	0	1	14873	1306	46	3		3	SNRPD2	19	46190817	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	216649	46190817	12938166	141	4175											
CCDC9	26093	genome.wustl.edu	37	chr19	47774588	47774588	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagacgagggggaagagaatGagggggaagaggatgaagaa	20	1	0	6			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:47774588G>T	ENST00000221922.6	+	12	1471	c.1249G>T	c.(1249-1251)Gag>Tag	p.E417*		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	417	Glu-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		ggaagagaatgagggggaaga	0.582																																																	0								ENSG00000105321						80	70	74					19																	47774588		2203	4299	6502	CCDC9	SO:0001587	stop_gained	0			-	HGNC	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1249G>T	19.37:g.47774588G>T	ENSP00000221922:p.Glu417*	Somatic	0	34	0		0.61599154991593	125	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Nonsense_Mutation	SNP							NULL	p.E417*	ENST00000221922.6	37	c.1249	CCDS12698.1	19	.	.	.	.	.	.	.	.	.	.	.	25.4	4.632823	0.87660	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	.	.	.	3.85	3.85	0.44370	.	0.946005	0.08747	N	0.899607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.1029	0.48186	0.0:0.0:1.0:0.0	.	.	.	.	X	417;399	.	ENSP00000221922:E417X	E	+	1	0	CCDC9	52466428	0.006000	0.16342	0.071000	0.20095	0.254000	0.26022	0.139000	0.16036	1.955000	0.56771	0.305000	0.20034	GAG	-	NULL		0.582	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC9	protein_coding	OTTHUMT00000466917.1	G	NM_015603	-		47774588	1	no_errors	ENST00000221922	ensembl	human	known	74_37	nonsense	SNP	0.612	T	T	47774588	G	T	47774588	4	4	76	1	0	0	0	0	0	1	0	0	2869	1291	45	3	1291	3	CCDC9	19	47774588	Nonsense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1583771	47774588	11354395	142	4176											
ASPDH	554235	genome.wustl.edu	37	chr19	51017057	51017057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatagcccaccacgcccacCctccacgggcccctgtcggc	8	23	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:51017057C>A	ENST00000389208.4	-	1	85	c.24G>T	c.(22-24)agG>agT	p.R8S	ASPDH_ENST00000597030.1_Intron|JOSD2_ENST00000598418.1_5'Flank|ASPDH_ENST00000376916.3_Intron|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000601423.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	8					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CCACGCCCACCCTCCACGGGC	0.692																																																	0								ENSG00000204653						36	45	42					19																	51017057		692	1591	2283	ASPDH	SO:0001583	missense	0			-	HGNC		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.24G>T	19.37:g.51017057C>A	ENSP00000373860:p.Arg8Ser	Somatic	0	85	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	105	15.32	Q6NZ37	Missense_Mutation	SNP							pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd	p.R8S	ENST00000389208.4	37	c.24	CCDS46153.1	19	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374864	0.42105	.	.	ENSG00000204653	ENST00000389208	T	0.56611	0.45	3.76	1.57	0.23409	NAD(P)-binding domain (1);	0.260151	0.29501	U	0.011964	T	0.41834	0.1176	L	0.52011	1.625	0.31346	N	0.683123	B	0.23377	0.084	B	0.21360	0.034	T	0.44467	-0.9326	10	0.87932	D	0	.	6.1416	0.20263	0.0:0.7513:0.0:0.2487	.	8	A6ND91	ASPD_HUMAN	S	8	ENSP00000373860:R8S	ENSP00000373860:R8S	R	-	3	2	ASPDH	55708869	0.171000	0.23029	0.940000	0.37924	0.739000	0.42172	0.013000	0.13310	0.215000	0.20761	0.462000	0.41574	AGG	-	NULL		0.692	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	protein_coding	OTTHUMT00000464861.1	C	NM_001024656	-		51017057	-1	no_errors	ENST00000389208	ensembl	human	known	74_37	missense	SNP	0.806	A	A	51017057	C	A	51017057	3	1	76	1	0	0	0	0	1	0	0	0	1051	622	22	3	855	3	ASPDH	19	51017057	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	3242469	51017057	8111926	143	4177											
TFPT	29844	genome.wustl.edu	37	chr19	54617940	54617940	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catctcgctcccggagccctGagccgcccagaccacctgac	9	20	1	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:54617940G>T	ENST00000391759.1	-	2	569	c.164C>A	c.(163-165)tCa>tAa	p.S55*	PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391758.1_Nonsense_Mutation_p.S46*|TFPT_ENST00000391757.1_Nonsense_Mutation_p.S55*|PRPF31_ENST00000419967.1_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	55					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCGGAGCCCTGAGCCGCCCAG	0.637			T	TCF3	pre-B ALL																																			Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0								ENSG00000105619						99	110	107					19																	54617940		2203	4300	6503	TFPT	SO:0001587	stop_gained	0			-	HGNC	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.164C>A	19.37:g.54617940G>T	ENSP00000375639:p.Ser55*	Somatic	0	44	0		0.61599154991593	137	0.71	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Nonsense_Mutation	SNP							NULL	p.S55*	ENST00000391759.1	37	c.164	CCDS12878.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.582535	0.98371	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	5.06	5.06	0.68205	.	0.702903	0.13090	N	0.414620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4201	14.3073	0.66393	0.0:0.0:1.0:0.0	.	.	.	.	X	55;46;55	.	ENSP00000375637:S55X	S	-	2	0	TFPT	59309752	0.978000	0.34361	0.523000	0.27875	0.663000	0.39108	5.464000	0.66719	2.516000	0.84829	0.563000	0.77884	TCA	-	NULL		0.637	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPT	protein_coding	OTTHUMT00000141215.4	G	NM_013342	-		54617940	-1	no_errors	ENST00000391759	ensembl	human	known	74_37	nonsense	SNP	0.470	T	T	54617940	G	T	54617940	4	4	76	1	0	0	0	0	0	1	0	0	15817	1294	45	3	617	3	TFPT	19	54617940	Nonsense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	3600883	54617940	4511043	144	4178											
NLRP9	338321	genome.wustl.edu	37	chr19	56220321	56220321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtattcctcgtcaatccaaGgtccatgtgaaatggtcaga	9	9	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:56220321G>C	ENST00000332836.2	-	9	2960	c.2933C>G	c.(2932-2934)cCt>cGt	p.P978R	CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	978						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCAATCCAAGGTCCATGTGA	0.478																																																	0								ENSG00000185792						105	101	102					19																	56220321		2203	4300	6503	NLRP9	SO:0001583	missense	0			-	HGNC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2933C>G	19.37:g.56220321G>C	ENSP00000331857:p.Pro978Arg	Somatic	0	56	0		0.61599154991593	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	62	23.46	B2RN12|Q86W27	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P978R	ENST00000332836.2	37	c.2933	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127819	0.20959	.	.	ENSG00000185792	ENST00000332836	T	0.72942	-0.7	2.65	-1.06	0.10002	.	.	.	.	.	T	0.56366	0.1980	L	0.29908	0.895	0.09310	N	0.999998	P	0.51351	0.944	P	0.44860	0.462	T	0.50065	-0.8871	9	0.52906	T	0.07	.	5.6222	0.17463	0.4372:0.0:0.5628:0.0	.	978	Q7RTR0	NALP9_HUMAN	R	978	ENSP00000331857:P978R	ENSP00000331857:P978R	P	-	2	0	NLRP9	60912133	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.298000	0.19120	-0.143000	0.11334	-0.150000	0.13652	CCT	-	NULL		0.478	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	protein_coding	OTTHUMT00000453653.1	G	NM_176820	-		56220321	-1	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	SNP	0.000	C	C	56220321	G	C	56220321	3	2	76	1	0	0	0	0	1	0	0	0	10486	1000	35	4	46	4	NLRP9	19	56220321	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1602381	56220321	2908662	145	4179											
ZNF264	9422	genome.wustl.edu	37	chr19	57723678	57723678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgagtgcctcgagtgtGggaaggctttcaaccaccga	12	11	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr19:57723678G>T	ENST00000263095.6	+	4	1627	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	ZNF264_ENST00000536056.1_Missense_Mutation_p.G405W	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	405					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(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		CCTCGAGTGTGGGAAGGCTTT	0.542																																																	0								ENSG00000083844						62	59	60					19																	57723678		2203	4300	6503	ZNF264	SO:0001583	missense	0			-	HGNC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1213G>T	19.37:g.57723678G>T	ENSP00000263095:p.Gly405Trp	Somatic	0	44	0		0.61599154991593	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K8Y9|Q9P1V0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G405W	ENST00000263095.6	37	c.1213	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084081	0.55861	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.23754	1.89;1.89	1.98	0.906	0.19314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54208	0.1844	M	0.93106	3.38	0.35927	D	0.832231	D	0.89917	1.0	D	0.87578	0.998	T	0.63902	-0.6532	9	0.87932	D	0	.	7.8243	0.29305	0.1445:0.0:0.8555:0.0	.	405	O43296	ZN264_HUMAN	W	405	ENSP00000263095:G405W;ENSP00000440376:G405W	ENSP00000263095:G405W	G	+	1	0	ZNF264	62415490	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	6.849000	0.75414	0.396000	0.25283	0.491000	0.48974	GGG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.542	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	protein_coding	OTTHUMT00000465080.1	G		-		57723678	1	no_errors	ENST00000263095	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57723678	G	T	57723678	3	4	76	1	0	0	0	0	1	0	0	0	17811	1348	47	3	1227	3	ZNF264	19	57723678	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1503357	57723678	1405305	146	4180											
SNRPB	6628	genome.wustl.edu	37	chr20	2442576	2442576	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catactctgtggccaagggtCaaagaaggcctgaagtaaga	12	8	2	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr20:2442576C>T	ENST00000438552.2	-	7	848				SNRPB_ENST00000381342.2_Silent_p.*232*|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1						gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|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)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GGCCAAGGGTCAAAGAAGGCC	0.532																																																	0								ENSG00000125835						87	71	76					20																	2442576		2203	4300	6503	SNRPB	SO:0001627	intron_variant	0			-	HGNC		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.686-137G>A	20.37:g.2442576C>T		Somatic	0	67	0		0.61599154991593	447	13.54	70	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	81	20.59	Q15490|Q6IB35|Q9UIS5	Silent	SNP							pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.*232	ENST00000438552.2	37	c.695	CCDS13026.1	20	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817791	0.16607	.	.	ENSG00000125835	ENST00000303103	.	.	.	4.9	3.88	0.44766	.	0.204155	0.32987	N	0.005417	T	0.66489	0.2794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69135	-0.5225	6	0.87932	D	0	.	10.6392	0.45584	0.0:0.806:0.194:0.0	.	.	.	.	N	232	.	ENSP00000303591:D232N	D	-	1	0	SNRPB	2390576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.975000	0.40569	2.717000	0.92951	0.655000	0.94253	GAC	-	NULL		0.532	SNRPB-002	KNOWN	basic|CCDS	protein_coding	SNRPB	protein_coding	OTTHUMT00000077585.2	C		-		2442576	-1	no_errors	ENST00000381342	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2442576	C	T	2442576	1	4	76	0	1	0	0	0	0	0	0	0	14869	837	29	2		2	SNRPB	20	2442576	Intron	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		2442576	60582944	147	4181											
PTPRA	5786	genome.wustl.edu	37	chr20	2945566	2945566	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacggcagaaccagttaaaGaagaggccaaaacttcaaat	8	9	1	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr20:2945566G>T	ENST00000216877.6	+	5	533	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	PTPRA_ENST00000380393.3_Nonsense_Mutation_p.E45*|PTPRA_ENST00000425918.2_Nonsense_Mutation_p.E56*|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Nonsense_Mutation_p.E45*|PTPRA_ENST00000318266.5_Nonsense_Mutation_p.E45*|PTPRA_ENST00000356147.3_Nonsense_Mutation_p.E45*	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	45					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCAGTTAAAGAAGAGGCCAA	0.388																																																	0								ENSG00000132670						103	96	98					20																	2945566		2203	4300	6503	PTPRA	SO:0001587	stop_gained	0			-	HGNC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.133G>T	20.37:g.2945566G>T	ENSP00000216877:p.Glu45*	Somatic	0	34	0		0.61599154991593	190	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Nonsense_Mutation	SNP							pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E56*	ENST00000216877.6	37	c.166	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926972	0.73327	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	.	.	.	4.54	2.54	0.30619	.	0.939771	0.08904	U	0.876794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	7.7489	0.28886	0.201:0.0:0.799:0.0	.	.	.	.	X	45;45;45;45;45;45;56;45;45;45	.	ENSP00000216877:E45X	E	+	1	0	PTPRA	2893566	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	1.849000	0.39318	0.448000	0.26722	0.650000	0.86243	GAA	-	pirsf_Tyr_Pase_rcpt_a/e-type		0.388	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	G		-		2945566	1	no_errors	ENST00000425918	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	2945566	G	T	2945566	4	4	76	1	0	0	0	0	0	1	0	0	12803	943	33	3	139	3	PTPRA	20	2945566	Nonsense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	502990	2945566	60079954	148	4182											
PTPRT	11122	genome.wustl.edu	37	chr20	41419840	41419840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaaatgccatacctgatAgaaatgtggccagaaagtgc	11	7	0	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr20:41419840A>G	ENST00000373187.1	-	3	480	c.481T>C	c.(481-483)Tat>Cat	p.Y161H	PTPRT_ENST00000373184.1_Missense_Mutation_p.Y161H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y161H|PTPRT_ENST00000373198.4_Missense_Mutation_p.Y161H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y161H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Y161H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Y161H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	161	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)				CATACCTGATAGAAATGTGGC	0.478																																																	0								ENSG00000196090						96	100	99					20																	41419840		1967	4171	6138	PTPRT	SO:0001583	missense	0			-	HGNC	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.481T>C	20.37:g.41419840A>G	ENSP00000362283:p.Tyr161His	Somatic	0	76	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	84	22.94	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Y161H	ENST00000373187.1	37	c.481	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567167	0.86439	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27;4.27;4.27	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00611	-1.1645	10	0.87932	D	0	.	15.9059	0.79430	1.0:0.0:0.0:0.0	.	161;161	O14522-1;O14522	.;PTPRT_HUMAN	H	161	ENSP00000362286:Y161H;ENSP00000362283:Y161H;ENSP00000362289:Y161H;ENSP00000348408:Y161H;ENSP00000362294:Y161H;ENSP00000362280:Y161H;ENSP00000362297:Y161H	ENSP00000348408:Y161H	Y	-	1	0	PTPRT	40853254	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.161000	0.67846	0.459000	0.35465	TAT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.478	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	A		-		41419840	-1	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	SNP	1.000	G	G	41419840	A	G	41419840	3	3	76	1	0	0	0	0	1	0	0	0	12820	420	15	5	4021	5	PTPRT	20	41419840	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	38474274	41419840	21605680	149	4183											
CTCFL	140690	genome.wustl.edu	37	chr20	56090832	56090832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcatagctgcactggCaacactgaaaggggcgctcc	13	12	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr20:56090832C>A	ENST00000608263.1	-	5	1779	c.1118G>T	c.(1117-1119)tGc>tTc	p.C373F	CTCFL_ENST00000429804.3_Missense_Mutation_p.C373F|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.C373F|CTCFL_ENST00000423479.3_Missense_Mutation_p.C373F|CTCFL_ENST00000539382.1_Missense_Mutation_p.C168F|CTCFL_ENST00000371196.2_Missense_Mutation_p.C373F|CTCFL_ENST00000608425.1_Missense_Mutation_p.C373F|CTCFL_ENST00000433949.3_Missense_Mutation_p.C168F|CTCFL_ENST00000609232.1_Missense_Mutation_p.C373F|CTCFL_ENST00000608903.1_Missense_Mutation_p.C111F|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000502686.2_Missense_Mutation_p.C111F|CTCFL_ENST00000422869.2_Missense_Mutation_p.C373F|CTCFL_ENST00000608440.1_Missense_Mutation_p.C373F	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	373					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTGCACTGGCAACACTGAAA	0.483																																																	0								ENSG00000124092						174	165	168					20																	56090832		2203	4300	6503	CTCFL	SO:0001583	missense	0			-	HGNC		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1118G>T	20.37:g.56090832C>A	ENSP00000476783:p.Cys373Phe	Somatic	0	64	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	55	35.29	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C373F	ENST00000608263.1	37	c.1118	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	6.200	0.405064	0.11754	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.24	-6.88	0.01665	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.445910	0.04419	N	0.367221	T	0.06735	0.0172	N	0.04746	-0.17	0.09310	N	1	B;P;B;P;P	0.41450	0.244;0.512;0.295;0.75;0.512	B;B;B;B;B	0.42062	0.281;0.173;0.374;0.226;0.171	T	0.14476	-1.0471	10	0.29301	T	0.29	1.9081	1.1248	0.01732	0.1895:0.2307:0.3226:0.2571	.	373;373;373;373;373	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	F	373;373;373;373;373;111;373;373;168;373	ENSP00000415579:C373F;ENSP00000243914:C373F;ENSP00000360239:C373F;ENSP00000415329:C373F;ENSP00000392034:C373F;ENSP00000437999:C111F;ENSP00000413713:C373F;ENSP00000403369:C373F;ENSP00000439998:C168F;ENSP00000399061:C373F	ENSP00000243914:C373F	C	-	2	0	CTCFL	55524238	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	-0.214000	0.09292	-1.536000	0.01738	-0.172000	0.13284	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	protein_coding	OTTHUMT00000472040.1	C	NM_080618	-		56090832	-1	no_errors	ENST00000423479	ensembl	human	known	74_37	missense	SNP	0.001	A	A	56090832	C	A	56090832	3	1	76	1	0	0	0	0	1	0	0	0	4003	710	25	3	897	3	CTCFL	20	56090832	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	14670992	56090832	6934688	150	4184											
KRTAP24-1	643803	genome.wustl.edu	37	chr21	31654526	31654526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccactgcacaaatacCtcagaggtggaaaggtactg	10	10	1	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr21:31654526C>T	ENST00000340345.4	-	1	750	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	242	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GCACAAATACCTCAGAGGTGG	0.448																																																	0								ENSG00000188694						92	88	89					21																	31654526		1842	4092	5934	KRTAP24-1	SO:0001583	missense	0			-	HGNC	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.725G>A	21.37:g.31654526C>T	ENSP00000339238:p.Arg242Lys	Somatic	0	45	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	Q1XDX0	Missense_Mutation	SNP							pfam_KRTAP_PMG	p.R242K	ENST00000340345.4	37	c.725	CCDS42915.1	21	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091357	0.76756	.	.	ENSG00000188694	ENST00000340345	T	0.32023	1.47	3.75	3.75	0.43078	.	0.460512	0.20990	N	0.082057	T	0.35189	0.0923	L	0.29908	0.895	0.32911	D	0.514527	D	0.76494	0.999	D	0.73708	0.981	T	0.06734	-1.0810	10	0.07030	T	0.85	-10.9873	11.3491	0.49577	0.0:1.0:0.0:0.0	.	242	Q3LI83	KR241_HUMAN	K	242	ENSP00000339238:R242K	ENSP00000339238:R242K	R	-	2	0	KRTAP24-1	30576397	0.995000	0.38212	1.000000	0.80357	0.969000	0.65631	1.628000	0.37060	2.382000	0.81193	0.557000	0.71058	AGG	-	NULL		0.448	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	protein_coding	OTTHUMT00000246806.2	C	NM_001085455	-		31654526	-1	no_errors	ENST00000340345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31654526	C	T	31654526	3	4	76	1	0	0	0	0	1	0	0	0	8544	681	24	2	43	2	KRTAP24-1	21	31654526	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		31654526	16475369	151	4185											
DSCAM	1826	genome.wustl.edu	37	chr21	41416026	41416026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcttgcgaggggctgaCgctgtaactgtcgctctctt	13	10	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr21:41416026C>T	ENST00000400454.1	-	31	5839	c.5362G>A	c.(5362-5364)Gtc>Atc	p.V1788I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1788					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)				GAGGGGCTGACGCTGTAACTG	0.637																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						109	117	114					21																	41416026		2186	4294	6480	DSCAM	SO:0001583	missense	0			-	HGNC	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.5362G>A	21.37:g.41416026C>T	ENSP00000383303:p.Val1788Ile	Somatic	0	25	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	17	48.48	O60468	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1788I	ENST00000400454.1	37	c.5362	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	c	20.3	3.961060	0.74016	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60040	0.22;0.32	5.53	5.53	0.82687	.	0.060719	0.64402	D	0.000003	T	0.66167	0.2762	L	0.27053	0.805	0.37713	D	0.924639	D	0.76494	0.999	D	0.71184	0.972	T	0.68723	-0.5333	10	0.42905	T	0.14	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	1788	O60469	DSCAM_HUMAN	I	1788;1540	ENSP00000383303:V1788I;ENSP00000385342:V1540I	ENSP00000383303:V1788I	V	-	1	0	DSCAM	40337896	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	6.003000	0.70701	2.605000	0.88082	0.655000	0.94253	GTC	-	NULL		0.637	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41416026	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41416026	C	T	41416026	3	4	76	1	0	0	0	0	1	0	0	0	4770	536	19	1	688	1	DSCAM	21	41416026	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	9761500	41416026	6713869	152	4186											
C21orf29	54084	genome.wustl.edu	37	chr21	45947272	45947272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cggtccacttgtagacggcgGatgtggctttgcgattggct	15	9	0	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr21:45947272G>T	ENST00000323084.4	-	7	1117	c.1052C>A	c.(1051-1053)tCc>tAc	p.S351Y	TSPEAR_ENST00000397916.1_Missense_Mutation_p.S283Y	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	351					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.S351Y(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTAGACGGCGGATGTGGCTTT	0.552																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000175894						260	236	244					21																	45947272		2203	4300	6503	TSPEAR	SO:0001583	missense	0			-	HGNC	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1052C>A	21.37:g.45947272G>T	ENSP00000321987:p.Ser351Tyr	Somatic	0	38	0		0.61599154991593	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06		Missense_Mutation	SNP							pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.S351Y	ENST00000323084.4	37	c.1052	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872392	0.51695	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.20200	2.09;2.1	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.55412	-0.8145	10	0.87932	D	0	-15.3549	18.4735	0.90783	0.0:0.0:1.0:0.0	.	351	Q8WU66	TSEAR_HUMAN	Y	351;204;283;352	ENSP00000321987:S351Y;ENSP00000381012:S283Y	ENSP00000321987:S351Y	S	-	2	0	TSPEAR	44771700	1.000000	0.71417	0.088000	0.20740	0.010000	0.07245	8.983000	0.93477	2.355000	0.79922	0.563000	0.77884	TCC	-	pfscan_EAR		0.552	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	protein_coding	OTTHUMT00000098761.1	G	NM_144991	-		45947272	-1	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	SNP	0.992	T	T	45947272	G	T	45947272	3	4	76	1	0	0	0	0	1	0	0	0	2126	1174	41	3	981	3	C21orf29	21	45947272	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	4531246	45947272	2182623	153	4187											
BCR	613	genome.wustl.edu	37	chr22	23523835	23523835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggggatgcatccaggcccCcttaccggggacgctcctcg	14	15	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:23523835C>A	ENST00000305877.8	+	1	1439	c.688C>A	c.(688-690)Cct>Act	p.P230T	BCR_ENST00000398512.5_Missense_Mutation_p.P230T|BCR_ENST00000359540.3_Missense_Mutation_p.P230T	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	230	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ATCCAGGCCCCCTTACCGGGG	0.677			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0								ENSG00000186716						28	30	29					22																	23523835		2184	4268	6452	BCR	SO:0001583	missense	0			-	HGNC		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.688C>A	22.37:g.23523835C>A	ENSP00000303507:p.Pro230Thr	Somatic	0	37	0		0.61599154991593	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.11	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.P230T	ENST00000305877.8	37	c.688	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	C	0.670	-0.802250	0.02841	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.40756	1.84;1.84;1.02	4.15	-3.16	0.05217	.	1.311420	0.05240	N	0.511983	T	0.14356	0.0347	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14727	-1.0462	10	0.07644	T	0.81	.	1.9737	0.03412	0.1264:0.1647:0.3778:0.331	.	230;230	P11274-2;P11274	.;BCR_HUMAN	T	230	ENSP00000303507:P230T;ENSP00000352535:P230T;ENSP00000381524:P230T	ENSP00000290956:P230T	P	+	1	0	BCR	21853835	0.418000	0.25440	0.000000	0.03702	0.002000	0.02628	0.414000	0.21164	-0.619000	0.05648	-1.109000	0.02080	CCT	-	NULL		0.677	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	protein_coding	OTTHUMT00000075819.1	C	NM_004327	-		23523835	1	no_errors	ENST00000305877	ensembl	human	known	74_37	missense	SNP	0.000	A	A	23523835	C	A	23523835	3	1	76	1	0	0	0	0	1	0	0	0	1388	623	22	3	690	3	BCR	22	23523835	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		23523835	27780731	154	4188											
SGSM1	129049	genome.wustl.edu	37	chr22	25270488	25270488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagagggagtcagtgGgagccagccagatgggacac	18	9	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:25270488G>T	ENST00000400359.4	+	13	1405	c.1398G>T	c.(1396-1398)tgG>tgT	p.W466C	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	466						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAGTCAGTGGGAGCCAGCCA	0.657																																																	0								ENSG00000167037						38	40	39					22																	25270488		2058	4206	6264	SGSM1	SO:0001583	missense	0			-	HGNC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1398G>T	22.37:g.25270488G>T	ENSP00000383212:p.Trp466Cys	Somatic	0	47	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP							pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.W466C	ENST00000400359.4	37	c.1398	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	4.495	0.091759	0.08632	.	.	ENSG00000167037	ENST00000400359	T	0.06608	3.28	4.63	3.53	0.40419	.	.	.	.	.	T	0.06600	0.0169	N	0.22421	0.69	0.42463	D	0.992796	D	0.55172	0.97	P	0.47206	0.541	T	0.27331	-1.0077	9	0.56958	D	0.05	-3.3271	10.1853	0.42993	0.0:0.2022:0.7978:0.0	.	466	Q2NKQ1	SGSM1_HUMAN	C	466	ENSP00000383212:W466C	ENSP00000383212:W466C	W	+	3	0	SGSM1	23600488	1.000000	0.71417	0.992000	0.48379	0.069000	0.16628	2.329000	0.43876	2.563000	0.86464	0.563000	0.77884	TGG	-	NULL		0.657	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	protein_coding	OTTHUMT00000320282.1	G	XM_059318	-		25270488	1	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	SNP	0.932	T	T	25270488	G	T	25270488	3	4	76	1	0	0	0	0	1	0	0	0	14230	1241	43	3	1448	3	SGSM1	22	25270488	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	1746653	25270488	26034078	155	4189											
CCDC117	150275	genome.wustl.edu	37	chr22	29169758	29169758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaagcgagaggaggaggaGgatgatgagtaagtttcagt	16	4	1	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:29169758G>C	ENST00000249064.4	+	2	407	c.231G>C	c.(229-231)gaG>gaC	p.E77D	CCDC117_ENST00000443309.2_5'UTR|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000421503.2_Missense_Mutation_p.E77D	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	77								p.E77D(1)		breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						AGGAGGAGGAGGATGATGAGT	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000159873						301	264	277					22																	29169758		2203	4300	6503	CCDC117	SO:0001583	missense	0			-	HGNC	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.231G>C	22.37:g.29169758G>C	ENSP00000249064:p.Glu77Asp	Somatic	0	65	0		0.61599154991593	8	59.09	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP							NULL	p.E77D	ENST00000249064.4	37	c.231	CCDS13846.1	22	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245039	0.39697	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.15256	2.44;2.46	5.03	-3.0	0.05480	.	0.305004	0.29616	N	0.011657	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14578	0.011;0.011	T	0.44236	-0.9341	10	0.02654	T	1	.	3.5404	0.07809	0.3397:0.0:0.3715:0.2888	.	77;77	B7Z2V1;Q8IWD4	.;CC117_HUMAN	D	77	ENSP00000249064:E77D;ENSP00000387827:E77D	ENSP00000249064:E77D	E	+	3	2	CCDC117	27499758	0.988000	0.35896	0.656000	0.29637	0.955000	0.61496	-0.014000	0.12656	-0.666000	0.05310	-0.367000	0.07326	GAG	-	NULL		0.368	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC117	protein_coding	OTTHUMT00000321258.1	G	NM_173510	-		29169758	1	no_errors	ENST00000249064	ensembl	human	known	74_37	missense	SNP	0.860	C	C	29169758	G	C	29169758	3	2	76	1	0	0	0	0	1	0	0	0	2756	991	35	4	237	4	CCDC117	22	29169758	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	3899270	29169758	22134808	156	4190											
EMID1	129080	genome.wustl.edu	37	chr22	29629378	29629378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcacccaggagacccattGctgtccaacaccttcactga	7	16	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:29629378G>T	ENST00000404820.3	+	9	961	c.834G>T	c.(832-834)ttG>ttT	p.L278F	EMID1_ENST00000334018.6_Missense_Mutation_p.L278F|EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.L278F			Q96A84	EMID1_HUMAN	EMI domain containing 1	276	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GAGACCCATTGCTGTCCAACA	0.592																																																	0								ENSG00000186998						196	202	200					22																	29629378		2203	4300	6503	EMID1	SO:0001583	missense	0			-	HGNC	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.834G>T	22.37:g.29629378G>T	ENSP00000384452:p.Leu278Phe	Somatic	0	54	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP							pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain	p.L278F	ENST00000404820.3	37	c.834		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.013|0.013	-1.640826|-1.640826	0.00799|0.00799	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000433143|ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820	.|D;T;D;D	.|0.90504	.|-2.68;0.84;-2.46;-2.63	5.24|5.24	-3.87|-3.87	0.04218|0.04218	.|.	.|1.630380	.|0.04769	.|N	.|0.427673	T|T	0.80670|0.80670	0.4667|0.4667	N|N	0.17564|0.17564	0.495|0.495	0.18873|0.18873	N|N	0.999988|0.999988	.|B;B;B;B	.|0.15930	.|0.009;0.001;0.009;0.015	.|B;B;B;B	.|0.14578	.|0.005;0.002;0.005;0.011	T|T	0.66040|0.66040	-0.6022|-0.6022	5|10	.|0.40728	.|T	.|0.16	0.2213|0.2213	5.649|5.649	0.17606|0.17606	0.4149:0.0:0.431:0.1541|0.4149:0.0:0.431:0.1541	.|.	.|278;278;276;278	.|B0QYK4;B0QYK5;Q96A84;Q96A84-3	.|.;.;EMID1_HUMAN;.	F|F	141|278;199;278;278	.|ENSP00000335481:L278F;ENSP00000403816:L199F;ENSP00000385414:L278F;ENSP00000384452:L278F	.|ENSP00000335481:L278F	C|L	+|+	2|3	0|2	EMID1|EMID1	27959378|27959378	0.499000|0.499000	0.26083|0.26083	0.021000|0.021000	0.16686|0.16686	0.085000|0.085000	0.17905|0.17905	-0.437000|-0.437000	0.06914|0.06914	-0.689000|-0.689000	0.05149|0.05149	-0.982000|-0.982000	0.02568|0.02568	TGC|TTG	-	NULL		0.592	EMID1-002	NOVEL	basic|appris_principal	protein_coding	EMID1	protein_coding	OTTHUMT00000321075.1	G	NM_133455	-		29629378	1	no_errors	ENST00000334018	ensembl	human	known	74_37	missense	SNP	0.043	T	T	29629378	G	T	29629378	3	4	76	1	0	0	0	0	1	0	0	0	5093	1310	46	3	868	3	EMID1	22	29629378	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	459620	29629378	21675188	157	4191											
NEFH	4744	genome.wustl.edu	37	chr22	29885939	29885939	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaagccaagactccagcGaaggaggaagcaaggtcccc	12	13	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:29885939G>A	ENST00000310624.6	+	4	2343	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	776	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGACTCCAGCGAAGGAGGAAG	0.542																																																	0								ENSG00000100285						76	76	76					22																	29885939		2203	4300	6503	NEFH	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2310G>A	22.37:g.29885939G>A		Somatic	0	89	0		0.61599154991593	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP							pfam_IF,pfam_DUF1388	p.A770	ENST00000310624.6	37	c.2310	CCDS13858.1	22																																																																																			-	NULL		0.542	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	protein_coding	OTTHUMT00000321553.2	G	NM_021076	-		29885939	1	no_errors	ENST00000310624	ensembl	human	known	74_37	silent	SNP	0.004	A	A	29885939	G	A	29885939	2	1	76	1	0	0	0	0	0	0	0	1	10316	1045	37	1		1	NEFH	22	29885939	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	256561	29885939	21418627	158	4192											
NF2	4771	genome.wustl.edu	37	chr22	30032860	30032860	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcctggctcaaaatggacAagaaggttgggctagaactc	13	8	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:30032860A>T	ENST00000338641.4	+	2	676	c.235A>T	c.(235-237)Aag>Tag	p.K79*	NF2_ENST00000403999.3_Nonsense_Mutation_p.K79*|NF2_ENST00000413209.2_Nonsense_Mutation_p.K79*|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000361676.4_Intron|NF2_ENST00000397789.3_Nonsense_Mutation_p.K79*|NF2_ENST00000361452.4_Nonsense_Mutation_p.K79*|NF2_ENST00000403435.1_Nonsense_Mutation_p.K79*|NF2_ENST00000334961.7_Intron|NF2_ENST00000361166.4_Nonsense_Mutation_p.K79*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	79	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		K -> E (in vestibular schwannoma). {ECO:0000269|PubMed:7951231}.		actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.M39_K80del(3)|p.?(3)|p.K79E(1)|p.K76fs*5(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAAATGGACAAGAAGGTTGG	0.542			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Unknown(3)|Deletion - In frame(3)|Substitution - Missense(1)|Deletion - Frameshift(1)	soft_tissue(4)|meninges(1)|stomach(1)|large_intestine(1)|lung(1)						ENSG00000186575						109	103	105					22																	30032860		2203	4300	6503	NF2	SO:0001587	stop_gained	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	-	HGNC	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.235A>T	22.37:g.30032860A>T	ENSP00000344666:p.Lys79*	Somatic	0	54	0		0.61599154991593	4	55.56	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	11	73.33	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP							pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin	p.K79*	ENST00000338641.4	37	c.235	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	A	40	8.300822	0.98750	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361166	.	.	.	6.02	6.02	0.97574	.	0.047341	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	.	.	.	X	79	.	.	K	+	1	0	NF2	28362860	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.435000	0.80391	2.311000	0.77944	0.533000	0.62120	AAG	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.542	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	protein_coding	OTTHUMT00000075615.3	A	NM_000268	-		30032860	1	no_errors	ENST00000338641	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	30032860	A	T	30032860	4	4	76	1	0	0	0	0	0	1	0	0	10359	131	5	5	241	5	NF2	22	30032860	Nonsense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	146921	30032860	21271706	159	4193											
CSF2RB	1439	genome.wustl.edu	37	chr22	37334065	37334065	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctctctgggcctcccctcaGaccagacccccagcttatgt	7	19	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:37334065G>C	ENST00000403662.3	+	14	2437	c.2215G>C	c.(2215-2217)Gac>Cac	p.D739H	CSF2RB_ENST00000262825.5_Missense_Mutation_p.D745H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D745H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D686H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	739					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTCCCCTCAGACCAGACCCC	0.612																																																	0								ENSG00000100368						57	64	61					22																	37334065		2203	4300	6503	CSF2RB	SO:0001583	missense	0			-	HGNC	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2215G>C	22.37:g.37334065G>C	ENSP00000384053:p.Asp739His	Somatic	0	30	0		0.61599154991593	16	5.88	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	102	32	75.56	Q5JZI1|Q6ICE0	Missense_Mutation	SNP							pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D745H	ENST00000403662.3	37	c.2233	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243148	0.22796	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92099	-2.46;-2.97;-2.97;-2.97	5.16	2.98	0.34508	.	0.841308	0.10137	N	0.711347	D	0.90212	0.6940	M	0.63428	1.95	0.09310	N	1	B;B	0.29508	0.246;0.159	B;B	0.29663	0.105;0.028	T	0.79417	-0.1812	10	0.39692	T	0.17	-7.7796	11.5954	0.50970	0.0:0.4018:0.5982:0.0	.	745;739	P32927-2;P32927	.;IL3RB_HUMAN	H	739;739;745;745;686	ENSP00000384053:D739H;ENSP00000262825:D745H;ENSP00000385271:D745H;ENSP00000440003:D686H	ENSP00000262825:D745H	D	+	1	0	CSF2RB	35664011	0.096000	0.21769	0.001000	0.08648	0.190000	0.23558	1.810000	0.38932	0.513000	0.28278	0.555000	0.69702	GAC	-	pirsf_IL3_rcpt_beta		0.612	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	protein_coding	OTTHUMT00000318854.1	G	NM_000395	-		37334065	1	no_errors	ENST00000262825	ensembl	human	known	74_37	missense	SNP	0.001	C	C	37334065	G	C	37334065	3	2	76	1	0	0	0	0	1	0	0	0	3937	942	33	4	2265	4	CSF2RB	22	37334065	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	7301205	37334065	13970501	160	4194											
FAM83F	113828	genome.wustl.edu	37	chr22	40391373	40391373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccctggcctactggccCgaccgttccgacaccgaggt	12	16	0	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:40391373C>T	ENST00000333407.6	+	1	421	c.327C>T	c.(325-327)ccC>ccT	p.P109P	FAM83F_ENST00000488874.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	109										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCTACTGGCCCGACCGTTCCG	0.731																																																	0								ENSG00000133477						4	6	5					22																	40391373		1635	3605	5240	FAM83F	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.327C>T	22.37:g.40391373C>T		Somatic	0	17	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	Q96FD6	Silent	SNP							pfam_DUF1669	p.P109	ENST00000333407.6	37	c.327	CCDS14000.2	22																																																																																			-	pfam_DUF1669		0.731	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	protein_coding	OTTHUMT00000319624.3	C	NM_138435	-		40391373	1	no_errors	ENST00000333407	ensembl	human	known	74_37	silent	SNP	0.983	T	T	40391373	C	T	40391373	2	4	76	1	0	0	0	0	0	0	0	1	5640	639	23	1		1	FAM83F	22	40391373	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	3057308	40391373	10913193	161	4195											
ADSL	158	genome.wustl.edu	37	chr22	40762509	40762509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgtgatgaaggtgaaaGcagaattatgtctgtagagt	13	3	1	5			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:40762509G>A	ENST00000216194.7	+	13	1494	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T	ADSL_ENST00000342312.6_Missense_Mutation_p.A421T|ADSL_ENST00000454266.2_Missense_Mutation_p.A494T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	480					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAGGTGAAAGCAGAATTATG	0.373																																					Colon(4;65 130 1097 1516)												0								ENSG00000239900						124	119	120					22																	40762509		2203	4300	6503	ADSL	SO:0001583	missense	0			-	HGNC	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1438G>A	22.37:g.40762509G>A	ENSP00000216194:p.Ala480Thr	Somatic	0	74	0		0.61599154991593	81	43.84	64	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	54	43.16	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP							pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase	p.A494T	ENST00000216194.7	37	c.1480	CCDS14001.1	22	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540772	0.65085	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.96104	-3.91;-3.91;-3.65	5.47	5.47	0.80525	.	0.159160	0.56097	D	0.000040	D	0.93409	0.7898	M	0.70595	2.14	0.31195	N	0.700425	B;B;B;B	0.23540	0.087;0.02;0.046;0.046	B;B;B;B	0.26094	0.066;0.034;0.031;0.031	D	0.88752	0.3251	9	.	.	.	-10.9115	8.1622	0.31204	0.1601:0.0:0.8399:0.0	.	494;421;480;480	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	T	480;494;300;421	ENSP00000216194:A480T;ENSP00000390107:A494T;ENSP00000341429:A421T	.	A	+	1	0	ADSL	39092455	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.930000	0.56522	2.853000	0.98044	0.655000	0.94253	GCA	-	NULL		0.373	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	protein_coding	OTTHUMT00000321386.1	G	NM_000026	-		40762509	1	no_errors	ENST00000454266	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40762509	G	A	40762509	3	1	76	1	0	0	0	0	1	0	0	0	346	971	34	2	1488	2	ADSL	22	40762509	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	371136	40762509	10542057	162	4196											
RANGAP1	5905	genome.wustl.edu	37	chr22	41642614	41642614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggctttgagtctagaccTtgtacagcgtctgcagcaga	12	9	2	4			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chr22:41642614T>C	ENST00000455915.2	-	15	3226	c.1757A>G	c.(1756-1758)aAg>aGg	p.K586R	RANGAP1_ENST00000405486.1_Missense_Mutation_p.K586R|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K586R|RANGAP1_ENST00000407260.4_Missense_Mutation_p.K531R			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	586					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTCTAGACCTTGTACAGCGT	0.627																																																	0								ENSG00000100401						58	45	49					22																	41642614		2192	4292	6484	RANGAP1	SO:0001583	missense	0			-	HGNC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1757A>G	22.37:g.41642614T>C	ENSP00000401470:p.Lys586Arg	Somatic	0	55	0		0.61599154991593	408	13.71	65	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	Q96JJ2	Missense_Mutation	SNP							pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.K586R	ENST00000455915.2	37	c.1757	CCDS14012.1	22	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574360	0.45902	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.44881	0.91;0.91;0.91;1.37	5.68	4.63	0.57726	Ran-GTPase activating protein 1, C-terminal (3);	0.647288	0.16499	N	0.211758	T	0.31949	0.0813	L	0.33485	1.01	0.21445	N	0.99969	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.005	T	0.18085	-1.0348	10	0.30854	T	0.27	-17.066	10.4868	0.44726	0.0:0.1362:0.0:0.8638	.	531;586	F8W7I9;P46060	.;RAGP1_HUMAN	R	586;586;586;586;531	ENSP00000385866:K586R;ENSP00000348577:K586R;ENSP00000401470:K586R;ENSP00000385354:K531R	ENSP00000348577:K586R	K	-	2	0	RANGAP1	39972560	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.330000	0.52068	0.951000	0.37770	0.383000	0.25322	AAG	-	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	protein_coding	OTTHUMT00000320606.1	T	NM_002883	-		41642614	-1	no_errors	ENST00000356244	ensembl	human	known	74_37	missense	SNP	0.721	C	C	41642614	T	C	41642614	3	2	76	1	0	0	0	0	1	0	0	0	13041	1609	56	5	10	5	RANGAP1	22	41642614	Missense_Mutation	SNP	T	TCGA-DX-A6YQ-01A-12D-A33E-09	880105	41642614	9661952	163	4197											
ASMT	438	genome.wustl.edu	37	chrX	1743283	1743283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggccacctggcagaCgccgtgaggtgggggctgcc	19	12	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:1743283C>T	ENST00000381229.4	+	3	402	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ASMT_ENST00000381241.3_Silent_p.D122D|ASMT_ENST00000381233.3_Silent_p.D122D			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	122					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	ACCTGGCAGACGCCGTGAGGT	0.672													c|||	2	0.000399361	0.0015	0	5008	,	,		18650	0		0	False		,,,				2504	0																0								ENSG00000196433		,,	3,4403		0,3,2200	82	75	77		366,366,366	-1.5	0	X	dbSNP_134	77	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	0,4,6495	TT,TC,CC		0.0116,0.0681,0.0308	,,	122/374,122/299,122/374	1743283	4,12994	2203	4296	6499	ASMT	SO:0001819	synonymous_variant	0			-	HGNC	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.366C>T	X.37:g.1743283C>T		Somatic	0	78	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	13	80.28	B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP							pfam_O_MeTrfase_2,pirsf_COMT	p.D122	ENST00000381229.4	37	c.366		X																																																																																			-	pfam_O_MeTrfase_2,pirsf_COMT		0.672	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	protein_coding	OTTHUMT00000055612.1	C	NM_004043	-		1743283	1	no_errors	ENST00000381241	ensembl	human	known	74_37	silent	SNP	0.452	T	T	1743283	C	T	1743283	2	4	76	1	0	0	0	0	0	0	0	1	1045	535	19	1		1	ASMT	23	1743283	Silent	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09		1743283	153527277	164	4198											
NLGN4X	57502	genome.wustl.edu	37	chrX	5811526	5811526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttcaagttgtgcaaatgagGaacgagttccaaccagaaag	11	7	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:5811526G>T	ENST00000381095.3	-	6	2410	c.1783C>A	c.(1783-1785)Cct>Act	p.P595T	NLGN4X_ENST00000275857.6_Missense_Mutation_p.P595T|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P595T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P615T|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P595T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	595					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P595S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGCAAATGAGGAACGAGTTCC	0.468																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000146938						173	161	165					X																	5811526		2170	4258	6428	NLGN4X	SO:0001583	missense	0			-	HGNC	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1783C>A	X.37:g.5811526G>T	ENSP00000370485:p.Pro595Thr	Somatic	0	29	0		0.61599154991593	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q6UX10|Q9ULG0	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P615T	ENST00000381095.3	37	c.1843	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185732	0.57909	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	4.1	4.1	0.47936	.	0.000000	0.36628	N	0.002493	T	0.75700	0.3885	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.981;0.995	T	0.80289	-0.1445	10	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:1.0:0.0	.	652;595;615	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	595;615;595;595;595	ENSP00000370485:P595T;ENSP00000370483:P615T;ENSP00000275857:P595T;ENSP00000370482:P595T;ENSP00000439203:P595T	ENSP00000275857:P595T	P	-	1	0	NLGN4X	5821526	1.000000	0.71417	0.011000	0.14972	0.724000	0.41520	8.442000	0.90317	1.654000	0.50703	0.513000	0.50165	CCT	-	NULL		0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	G	NM_020742	-		5811526	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	SNP	0.992	T	T	5811526	G	T	5811526	3	4	76	1	0	0	0	0	1	0	0	0	10466	1174	41	3	671	3	NLGN4X	23	5811526	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	4068243	5811526	149459034	165	4199											
STARD8	9754	genome.wustl.edu	37	chrX	67939184	67939184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacaagggctcactgctGcggcttaccgcgttcatgga	12	13	2	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:67939184G>A	ENST00000252336.6	+	6	1965	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L	STARD8_ENST00000374597.3_Silent_p.L531L|STARD8_ENST00000374599.3_Silent_p.L611L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	531					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCTCACTGCTGCGGCTTACCG	0.602																																																	0								ENSG00000130052						81	50	60					X																	67939184		2203	4300	6503	STARD8	SO:0001819	synonymous_variant	0			-	HGNC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1593G>A	X.37:g.67939184G>A		Somatic	0	90	0		0.61599154991593	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	29	64.63	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.L611	ENST00000252336.6	37	c.1833	CCDS14390.1	X																																																																																			-	NULL		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	protein_coding	OTTHUMT00000057026.2	G	NM_014725	-		67939184	1	no_errors	ENST00000374599	ensembl	human	known	74_37	silent	SNP	0.998	A	A	67939184	G	A	67939184	2	1	76	1	0	0	0	0	0	0	0	1	15270	1306	46	2		2	STARD8	23	67939184	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	62127658	67939184	87331376	166	4200											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961451	73961451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatccatattgactggccCctgctggaaaggaaagcaga	10	10	1	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:73961451C>A	ENST00000055682.6	-	3	3552	c.2941G>T	c.(2941-2943)Ggg>Tgg	p.G981W		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	981					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGACTGGCCCCTGCTGGAAA	0.448																																																	0								ENSG00000050030						87	76	79					X																	73961451		2203	4300	6503	KIAA2022	SO:0001583	missense	0			-	HGNC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2941G>T	X.37:g.73961451C>A	ENSP00000055682:p.Gly981Trp	Somatic	0	53	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP							NULL	p.G981W	ENST00000055682.6	37	c.2941	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087612	0.55968	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37411	1.2;1.2	5.58	3.83	0.44106	.	0.453697	0.26871	N	0.022063	T	0.49321	0.1550	L	0.47716	1.5	0.51482	D	0.999922	D	0.69078	0.997	D	0.65874	0.939	T	0.45963	-0.9225	10	0.87932	D	0	-0.2484	11.4435	0.50110	0.0:0.8511:0.0:0.1489	.	981	Q5QGS0	K2022_HUMAN	W	981	ENSP00000362567:G981W;ENSP00000055682:G981W	ENSP00000055682:G981W	G	-	1	0	KIAA2022	73878176	1.000000	0.71417	0.953000	0.39169	0.792000	0.44763	1.946000	0.40283	0.551000	0.29008	0.600000	0.82982	GGG	-	NULL		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	C	NM_001008537	-		73961451	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73961451	C	A	73961451	3	1	76	1	0	0	0	0	1	0	0	0	8271	623	22	3	1617	3	KIAA2022	23	73961451	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	6022267	73961451	81309109	167	4201											
ZMAT1	84460	genome.wustl.edu	37	chrX	101159271	101159271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaaacttatctgtaaaaaGttcagccttttcctgttcat	4	9	3	0	rs367645895		TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:101159271G>T	ENST00000372782.3	-	3	201	c.154C>A	c.(154-156)Ctt>Att	p.L52I	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L52I	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	52						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCTGTAAAAAGTTCAGCCTTT	0.318																																																	0								ENSG00000166432						106	97	100					X																	101159271		2201	4300	6501	ZMAT1	SO:0001583	missense	0			-	HGNC	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.154C>A	X.37:g.101159271G>T	ENSP00000361868:p.Leu52Ile	Somatic	0	48	0		0.61599154991593	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	29.17	Q8NDS3|Q96JN6	Missense_Mutation	SNP							superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.L52I	ENST00000372782.3	37	c.154	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992989	0.54041	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.15718	2.4;2.4	4.75	0.981	0.19756	.	2.946150	0.01654	N	0.024720	T	0.08447	0.0210	N	0.05383	-0.06	0.09310	N	0.999999	P	0.42827	0.791	B	0.29785	0.107	T	0.29058	-1.0024	10	0.52906	T	0.07	2.3531	7.6487	0.28336	0.3934:0.0:0.6066:0.0	.	52	Q5H9K5	ZMAT1_HUMAN	I	52	ENSP00000361868:L52I;ENSP00000437529:L52I	ENSP00000361868:L52I	L	-	1	0	ZMAT1	101045927	0.805000	0.28982	0.004000	0.12327	0.981000	0.71138	0.744000	0.26245	-0.035000	0.13691	0.590000	0.80494	CTT	-	NULL		0.318	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	protein_coding	OTTHUMT00000057598.1	G		-		101159271	-1	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	SNP	0.052	T	T	101159271	G	T	101159271	3	4	76	1	0	0	0	0	1	0	0	0	17698	1029	36	3	1782	3	ZMAT1	23	101159271	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	27197820	101159271	54111289	168	4202											
ESX1	80712	genome.wustl.edu	37	chrX	103494923	103494923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttactttagaaaaagggacAtgcataataactgttgatga	8	5	0	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:103494923A>T	ENST00000372588.4	-	4	1290	c.1207T>A	c.(1207-1209)Tgt>Agt	p.C403S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	403					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AAAAAGGGACATGCATAATAA	0.473																																					Pancreas(200;1705 2227 25194 28471 45274)												0								ENSG00000123576						61	60	60					X																	103494923		2203	4300	6503	ESX1	SO:0001583	missense	0			-	HGNC	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1207T>A	X.37:g.103494923A>T	ENSP00000361669:p.Cys403Ser	Somatic	0	133	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	103	24.26	B0QYU3|Q7Z6K7	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.C403S	ENST00000372588.4	37	c.1207	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	A	2.710	-0.268932	0.05716	.	.	ENSG00000123576	ENST00000372588	T	0.52754	0.65	4.09	1.42	0.22433	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	9	0.20519	T	0.43	-0.0475	2.7571	0.05296	0.1774:0.3816:0.3384:0.1025	.	403	Q8N693	ESX1_HUMAN	S	403	ENSP00000361669:C403S	ENSP00000361669:C403S	C	-	1	0	ESX1	103381579	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.154000	0.10130	0.167000	0.19631	-0.819000	0.03115	TGT	-	NULL		0.473	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	protein_coding	OTTHUMT00000057763.2	A	NM_153448	-		103494923	-1	no_errors	ENST00000372588	ensembl	human	known	74_37	missense	SNP	0.000	T	T	103494923	A	T	103494923	3	4	76	1	0	0	0	0	1	0	0	0	5265	217	8	5	17	5	ESX1	23	103494923	Missense_Mutation	SNP	A	TCGA-DX-A6YQ-01A-12D-A33E-09	2335652	103494923	51775637	169	4203											
DCX	1641	genome.wustl.edu	37	chrX	110653472	110653472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagaaacgtaccttcttgGctttcttctcattactcagt	7	10	4	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:110653472G>T	ENST00000338081.3	-	2	569	c.398C>A	c.(397-399)gCc>gAc	p.A133D	DCX_ENST00000356220.3_Missense_Mutation_p.A52D|DCX_ENST00000488120.1_Missense_Mutation_p.A52D|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.A52D|DCX_ENST00000356915.2_Missense_Mutation_p.A52D	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	133					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TACCTTCTTGGCTTTCTTCTC	0.552																																																	0								ENSG00000077279						289	215	240					X																	110653472		2203	4300	6503	DCX	SO:0001583	missense	0			-	HGNC	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.398C>A	X.37:g.110653472G>T	ENSP00000337697:p.Ala133Asp	Somatic	0	75	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	54	25.00	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.A133D	ENST00000338081.3	37	c.398	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.389603|4.389603	0.82902|0.82902	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	D;D;D;D;D;D|.	0.94576|.	-2.4;-2.4;-2.4;-2.4;-2.4;-3.46|.	5.37|5.37	4.51|4.51	0.55191|0.55191	Doublecortin domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58206|0.58206	0.2106|0.2106	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.993|.	D;D|.	0.70016|.	0.967;0.956|.	T|T	0.54735|0.54735	-0.8249|-0.8249	10|5	0.87932|.	D|.	0|.	.|.	13.0652|13.0652	0.59030|0.59030	0.0785:0.0:0.9214:0.0|0.0785:0.0:0.9214:0.0	.|.	121;133|.	B4DM53;O43602|.	.;DCX_HUMAN|.	D|T	52;52;133;52;52;52|125	ENSP00000349385:A52D;ENSP00000361061:A52D;ENSP00000337697:A133D;ENSP00000348553:A52D;ENSP00000419861:A52D;ENSP00000418811:A52D|.	ENSP00000337697:A133D|.	A|P	-|-	2|1	0|0	DCX|DCX	110540128|110540128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	1.238000|1.238000	0.43771|0.43771	0.513000|0.513000	0.50165|0.50165	GCC|CCA	-	smart_Doublecortin_dom,pirsf_Doublecortin_chordata		0.552	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	protein_coding	OTTHUMT00000357058.1	G	NM_178153	-		110653472	-1	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110653472	G	T	110653472	3	4	76	1	0	0	0	0	1	0	0	0	4320	1203	42	3	966	3	DCX	23	110653472	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	7158549	110653472	44617088	170	4204											
IGSF1	3547	genome.wustl.edu	37	chrX	130408685	130408685	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttttccttctacgttgttGatgacaaagtctccatcctc	5	13	2	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:130408685G>A	ENST00000361420.3	-	18	3718	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I	IGSF1_ENST00000370903.3_Silent_p.I1218I|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.I1204I|IGSF1_ENST00000370904.1_Silent_p.I1204I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1213	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTACGTTGTTGATGACAAAGT	0.522																																																	0								ENSG00000147255						229	211	217					X																	130408685		2203	4300	6503	IGSF1	SO:0001819	synonymous_variant	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3639C>T	X.37:g.130408685G>A		Somatic	0	42	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	80	11.11	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I1218	ENST00000361420.3	37	c.3654	CCDS14629.1	X																																																																																			-	smart_Ig_sub,smart_Ig_sub2		0.522	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130408685	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	silent	SNP	0.983	A	A	130408685	G	A	130408685	2	1	76	1	0	0	0	0	0	0	0	1	7598	1280	45	2		2	IGSF1	23	130408685	Silent	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	19755213	130408685	24861875	171	4205			1	51		5	5	324	G		4.539469e-13
IGSF1	3547	genome.wustl.edu	37	chrX	130408707	130408707	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgacaaagtctccatcctctGaaaactgctgaggtgcttct	8	11	3	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:130408707G>C	ENST00000361420.3	-	18	3696	c.3617C>G	c.(3616-3618)tCa>tGa	p.S1206*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S1211*|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S1197*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.S1197*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1206	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCATCCTCTGAAAACTGCTG	0.498																																																	0								ENSG00000147255						217	206	210					X																	130408707		2203	4300	6503	IGSF1	SO:0001587	stop_gained	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3617C>G	X.37:g.130408707G>C	ENSP00000355010:p.Ser1206*	Somatic	0	45	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	76	11.63	B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S1211*	ENST00000361420.3	37	c.3632	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	40	8.435862	0.98810	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	5.35	4.47	0.54385	.	0.931858	0.08884	N	0.879565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	9.3694	0.38246	0.1063:0.0:0.8937:0.0	.	.	.	.	X	1197;1206;1197;1211	.	ENSP00000355010:S1206X	S	-	2	0	IGSF1	130236388	0.182000	0.23173	0.997000	0.53966	0.958000	0.62258	1.220000	0.32491	2.376000	0.81061	0.594000	0.82650	TCA	-	smart_Ig_sub,smart_Ig_sub2		0.498	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130408707	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	nonsense	SNP	0.957	C	C	130408707	G	C	130408707	4	2	76	1	0	0	0	0	0	1	0	0	7598	1294	45	4	405	4	IGSF1	23	130408707	Nonsense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	22	130408707	24861853	172	4206			1	51		5	5	324	G		4.539469e-13
IGSF1	3547	genome.wustl.edu	37	chrX	130408744	130408744	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctccatcatgttctaGgacaaattcaacacctggca	5	12	5	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:130408744G>C	ENST00000361420.3	-	18	3659	c.3580C>G	c.(3580-3582)Cta>Gta	p.L1194V	IGSF1_ENST00000370903.3_Missense_Mutation_p.L1199V|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.L1185V|IGSF1_ENST00000370904.1_Missense_Mutation_p.L1185V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1194	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCATGTTCTAGGACAAATTCA	0.502																																																	0								ENSG00000147255						168	165	166					X																	130408744		2203	4300	6503	IGSF1	SO:0001583	missense	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3580C>G	X.37:g.130408744G>C	ENSP00000355010:p.Leu1194Val	Somatic	0	81	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	93	10.58	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L1199V	ENST00000361420.3	37	c.3595	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594177	0.46214	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.35	3.59	0.41128	Immunoglobulin-like fold (1);	0.168825	0.28296	N	0.015878	T	0.44350	0.1289	M	0.89968	3.075	0.29624	N	0.845943	D;D;D	0.69078	0.979;0.997;0.992	D;D;D	0.76071	0.92;0.976;0.987	T	0.48896	-0.8994	10	0.87932	D	0	.	7.462	0.27300	0.2039:0.0:0.7961:0.0	.	1185;638;1194	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	1185;1194;1185;1199	ENSP00000359947:L1185V;ENSP00000355010:L1194V;ENSP00000359941:L1185V;ENSP00000359940:L1199V	ENSP00000355010:L1194V	L	-	1	2	IGSF1	130236425	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.370000	0.34238	0.566000	0.29273	0.594000	0.82650	CTA	-	smart_Ig_sub,smart_Ig_sub2		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130408744	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	SNP	0.994	C	C	130408744	G	C	130408744	3	2	76	1	0	0	0	0	1	0	0	0	7598	991	35	4	442	4	IGSF1	23	130408744	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	37	130408744	24861816	173	4207			1	51		5	5	324	G		4.539469e-13
IGSF1	3547	genome.wustl.edu	37	chrX	130408805	130408805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatgtccttccctaacttGaacatggtgctgggccaggc	12	11	0	2			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:130408805G>T	ENST00000361420.3	-	18	3598	c.3519C>A	c.(3517-3519)ttC>ttA	p.F1173L	IGSF1_ENST00000370903.3_Missense_Mutation_p.F1178L|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.F1164L|IGSF1_ENST00000370904.1_Missense_Mutation_p.F1164L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1173	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCTAACTTGAACATGGTGC	0.488																																																	0								ENSG00000147255						111	116	114					X																	130408805		2203	4300	6503	IGSF1	SO:0001583	missense	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3519C>A	X.37:g.130408805G>T	ENSP00000355010:p.Phe1173Leu	Somatic	0	90	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	132	10.20	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F1178L	ENST00000361420.3	37	c.3534	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	2.470	-0.322222	0.05350	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.03	4.1	0.47936	Immunoglobulin-like fold (1);	0.133656	0.35040	N	0.003494	T	0.10465	0.0256	N	0.05177	-0.1	0.33563	D	0.597671	D;B;D	0.59357	0.979;0.169;0.985	P;B;D	0.72338	0.889;0.262;0.977	T	0.23013	-1.0200	10	0.45353	T	0.12	.	9.7945	0.40726	0.0:0.2043:0.7957:0.0	.	1164;617;1173	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	L	1164;1173;1164;1178	ENSP00000359947:F1164L;ENSP00000355010:F1173L;ENSP00000359941:F1164L;ENSP00000359940:F1178L	ENSP00000355010:F1173L	F	-	3	2	IGSF1	130236486	0.958000	0.32768	1.000000	0.80357	0.408000	0.30992	0.668000	0.25127	2.225000	0.72522	0.594000	0.82650	TTC	-	smart_Ig_sub		0.488	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130408805	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130408805	G	T	130408805	3	4	76	1	0	0	0	0	1	0	0	0	7598	1281	45	3	503	3	IGSF1	23	130408805	Missense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	61	130408805	24861755	174	4208			1	51		5	5	324	G		4.539469e-13
IGSF1	3547	genome.wustl.edu	37	chrX	130409008	130409008	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagggagtcactgtgatttGaagctgcaaagggagtagag	15	6	1	3			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:130409008G>T	ENST00000361420.3	-	17	3516	c.3437C>A	c.(3436-3438)tCa>tAa	p.S1146*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S1151*|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S1137*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.S1137*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1146	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACTGTGATTTGAAGCTGCAAA	0.468																																																	0								ENSG00000147255						166	160	162					X																	130409008		2203	4300	6503	IGSF1	SO:0001587	stop_gained	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3437C>A	X.37:g.130409008G>T	ENSP00000355010:p.Ser1146*	Somatic	0	60	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51	B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S1151*	ENST00000361420.3	37	c.3452	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	41	8.601538	0.98881	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	5.35	4.48	0.54585	.	2.260420	0.01731	N	0.028871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1551	0.31165	0.1092:0.0:0.8908:0.0	.	.	.	.	X	1137;1146;1137;1151	.	ENSP00000355010:S1146X	S	-	2	0	IGSF1	130236689	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	2.987000	0.49378	2.376000	0.81061	0.594000	0.82650	TCA	-	smart_Ig_sub		0.468	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130409008	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	nonsense	SNP	0.857	T	T	130409008	G	T	130409008	4	4	76	1	0	0	0	0	0	1	0	0	7598	1294	45	3	589	3	IGSF1	23	130409008	Nonsense_Mutation	SNP	G	TCGA-DX-A6YQ-01A-12D-A33E-09	203	130409008	24861552	175	4209			1	51		5	5	324	G		4.539469e-13
GPR112	139378	genome.wustl.edu	37	chrX	135405422	135405422	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggcagcttgtactactttCaactctgggaccacatcctg	8	13	2	0			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:135405422C>A	ENST00000394143.1	+	5	847	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.Q123K|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.Q186K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	186					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)					GTACTACTTTCAACTCTGGGA	0.443																																																	0								ENSG00000156920						171	150	157					X																	135405422		2203	4300	6503	GPR112	SO:0001583	missense	0			-	HGNC	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.556C>A	X.37:g.135405422C>A	ENSP00000377699:p.Gln186Lys	Somatic	0	44	0		0.61599154991593	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	83	20.95	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.Q186K	ENST00000394143.1	37	c.556	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916273	0.73098	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.62788	-0.0;-0.0;-0.0	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.71324	0.3326	L	0.34521	1.04	0.23056	N	0.998361	D	0.69078	0.997	D	0.83275	0.996	T	0.64997	-0.6275	9	0.59425	D	0.04	.	15.2305	0.73383	0.0:1.0:0.0:0.0	.	186	Q8IZF6	GP112_HUMAN	K	186;186;123	ENSP00000377699:Q186K;ENSP00000359686:Q186K;ENSP00000287534:Q123K	ENSP00000287534:Q123K	Q	+	1	0	GPR112	135233088	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.991000	0.49409	2.349000	0.79799	0.513000	0.50165	CAA	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	C		-		135405422	1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135405422	C	A	135405422	3	1	76	1	0	0	0	0	1	0	0	0	6631	827	29	3	562	3	GPR112	23	135405422	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	4996414	135405422	19865138	176	4210											
PLXNA3	55558	genome.wustl.edu	37	chrX	153692617	153692617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaactgctctgcccctcaCcctccctccaggagctccga	8	19	2	1			TCGA-DX-A6YQ-01A-12D-A33E-09	TCGA-DX-A6YQ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8	d69e4b21-e6ab-4164-9ba6-809891a82b67	g.chrX:153692617C>T	ENST00000369682.3	+	8	1964	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	597					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)			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)					CTGCCCCTCACCCTCCCTCCA	0.697																																																	0								ENSG00000130827						23	23	23					X																	153692617		2199	4293	6492	PLXNA3	SO:0001583	missense	0			-	HGNC	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.1789C>T	X.37:g.153692617C>T	ENSP00000358696:p.Pro597Ser	Somatic	0	21	0		0.61599154991593	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q5HY36	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P597S	ENST00000369682.3	37	c.1789	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235506	0.39498	.	.	ENSG00000130827	ENST00000369682	T	0.01209	5.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	M	0.80616	2.505	0.80722	D	1	P	0.50819	0.939	P	0.46825	0.528	T	0.22556	-1.0213	10	0.87932	D	0	.	17.0691	0.86568	0.0:1.0:0.0:0.0	.	597	P51805	PLXA3_HUMAN	S	597	ENSP00000358696:P597S	ENSP00000358696:P597S	P	+	1	0	PLXNA3	153345811	0.141000	0.22595	0.200000	0.23457	0.036000	0.12997	1.286000	0.33273	2.295000	0.77249	0.597000	0.82753	CCC	-	NULL		0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	protein_coding	OTTHUMT00000081634.1	C	NM_017514	-		153692617	1	no_errors	ENST00000369682	ensembl	human	known	74_37	missense	SNP	0.999	T	T	153692617	C	T	153692617	3	4	76	1	0	0	0	0	1	0	0	0	12123	507	18	2	1815	2	PLXNA3	23	153692617	Missense_Mutation	SNP	C	TCGA-DX-A6YQ-01A-12D-A33E-09	18287195	153692617	1577943	177	4211											
PPCS	79717	genome.wustl.edu	37	chr1	42925276	42925276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttccaatacagatAacaatgaagatggtgccaaa	6	7	1	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr1:42925276A>G	ENST00000372561.3	+	3	622	c.615A>G	c.(613-615)atA>atG	p.I205M	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Missense_Mutation_p.I32M|PPCS_ENST00000372556.3_Silent_p.*57*|PPCS_ENST00000455780.1_Missense_Mutation_p.I32M	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	205					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAATACAGATAACAATGAAGA	0.373																																																	0								ENSG00000127125						53	53	53					1																	42925276		1835	4079	5914	PPCS	SO:0001583	missense	0			-	HGNC	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.615A>G	1.37:g.42925276A>G	ENSP00000361642:p.Ile205Met	Somatic	0	25	0		0.625730280766084	27	62.5	45	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	26	59.38	Q3KQT2|Q5VVM0	Missense_Mutation	SNP							pfam_DNA/pantothenate-metab_flavo_C,superfamily_DNA/pantothenate-metab_flavo_C	p.I205M	ENST00000372561.3	37	c.615	CCDS41311.1	1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282870	0.59867	.	.	ENSG00000127125	ENST00000372562;ENST00000455780;ENST00000372561	.	.	.	6.02	6.02	0.97574	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.040889	0.85682	D	0.000000	T	0.70448	0.3225	M	0.69248	2.105	0.53688	D	0.999971	D	0.62365	0.991	D	0.67382	0.951	T	0.72014	-0.4418	9	0.49607	T	0.09	-11.8342	9.74	0.40413	0.8459:0.0:0.0:0.154	.	205	Q9HAB8	PPCS_HUMAN	M	32;32;205	.	ENSP00000361642:I205M	I	+	3	3	PPCS	42697863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.545000	0.36169	2.311000	0.77944	0.533000	0.62120	ATA	-	pfam_DNA/pantothenate-metab_flavo_C,superfamily_DNA/pantothenate-metab_flavo_C		0.373	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPCS	protein_coding	OTTHUMT00000019166.1	A	NM_024664	-		42925276	1	no_errors	ENST00000372561	ensembl	human	known	74_37	missense	SNP	1.000	G	G	42925276	A	G	42925276	3	3	77	1	0	0	0	0	1	0	0	0	12307	352	13	5	625	5	PPCS	1	42925276	Missense_Mutation	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09		42925276	206325345	1	4212											
C1orf175	374977	genome.wustl.edu	37	chr1	55151962	55151962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcgagctcctgtccgTcaacagctgcatgggccgtg	13	14	1	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr1:55151962T>G	ENST00000421030.2	+	15	2837	c.2552T>G	c.(2551-2553)gTc>gGc	p.V851G	MROH7_ENST00000395690.2_Missense_Mutation_p.V851G|MROH7_ENST00000339553.5_Missense_Mutation_p.V851G|MROH7_ENST00000409996.1_Missense_Mutation_p.V419G|MROH7_ENST00000454855.2_Missense_Mutation_p.V369G|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.V851G|MROH7_ENST00000545244.1_Missense_Mutation_p.V419G	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	851						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTCCTGTCCGTCAACAGCTGC	0.657																																																	0								ENSG00000271723						45	52	50					1																	55151962		2122	4236	6358	MROH7-TTC4	SO:0001583	missense	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2552T>G	1.37:g.55151962T>G	ENSP00000396622:p.Val851Gly	Somatic	0	31	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	16	62.79	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.V851G	ENST00000421030.2	37	c.2552	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124789	0.37533	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.33438	1.5;3.47;1.41;1.5;1.5;1.41	4.97	4.97	0.65823	Armadillo-type fold (1);	0.299432	0.23902	N	0.043436	T	0.43411	0.1246	L	0.39147	1.195	0.43540	D	0.995839	D;B;P;D	0.76494	0.999;0.234;0.48;0.999	D;B;B;D	0.79108	0.992;0.14;0.118;0.992	T	0.18524	-1.0334	10	0.37606	T	0.19	-12.9887	10.9524	0.47336	0.0:0.0:0.0:1.0	.	851;851;419;851	F8W8P2;Q68CQ1;F5H7R4;Q68CQ1-9	.;HEAT8_HUMAN;.;.	G	851;419;880;851;419;369;851	ENSP00000396622:V851G;ENSP00000442333:V419G;ENSP00000343211:V851G;ENSP00000387048:V419G;ENSP00000401130:V369G;ENSP00000379044:V851G	ENSP00000343211:V851G	V	+	2	0	HEATR8	54924550	0.967000	0.33354	0.993000	0.49108	0.814000	0.46013	3.776000	0.55356	2.072000	0.62099	0.533000	0.62120	GTC	-	superfamily_ARM-type_fold		0.657	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	T	NM_198547	-		55151962	1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	SNP	0.997	G	G	55151962	T	G	55151962	3	3	77	1	0	0	0	0	1	0	0	0	2018	1667	58	5	2602	5	C1orf175	1	55151962	Missense_Mutation	SNP	T	TCGA-DX-A6YR-01A-33D-A351-09	12226686	55151962	194098659	2	4213											
DRAM2	128338	genome.wustl.edu	37	chr1	111674157	111674157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggaaggaaactgaggCcttgctgaaaccaccacatt	10	10	0	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr1:111674157C>A	ENST00000286692.4	-	3	637	c.20G>T	c.(19-21)gGc>gTc	p.G7V	DRAM2_ENST00000539140.1_Missense_Mutation_p.G7V|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	7					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						GAAACTGAGGCCTTGCTGAAA	0.388																																																	0								ENSG00000156171						122	121	122					1																	111674157		2203	4300	6503	DRAM2	SO:0001583	missense	0			-	HGNC	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"transmembrane protein 77"	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.20G>T	1.37:g.111674157C>A	ENSP00000286692:p.Gly7Val	Somatic	0	58	0		0.625730280766084	67	1.45	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Missense_Mutation	SNP							pfam_Frag1/DRAM/Sfk1	p.G7V	ENST00000286692.4	37	c.20	CCDS30801.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362328	0.82353	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79203	-0.1900	9	0.87932	D	0	-2.3378	16.0793	0.80989	0.0:1.0:0.0:0.0	.	7	Q6UX65	DRAM2_HUMAN	V	7	.	ENSP00000286692:G7V	G	-	2	0	DRAM2	111475680	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.925000	0.70062	2.873000	0.98535	0.561000	0.74099	GGC	-	NULL		0.388	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM2	protein_coding	OTTHUMT00000032930.3	C	NM_178454	-		111674157	-1	no_errors	ENST00000286692	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111674157	C	A	111674157	3	1	77	1	0	0	0	0	1	0	0	0	4756	739	26	3	808	3	DRAM2	1	111674157	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	56522195	111674157	137576464	3	4214											
GJA8	2703	genome.wustl.edu	37	chr1	147380140	147380140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgaatgagcactccaccGtcatcggcagagtctggctc	12	12	2	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr1:147380140G>A	ENST00000369235.1	+	1	58	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	GJA8_ENST00000240986.4_Missense_Mutation_p.V20I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	20					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCACTCCACCGTCATCGGCAG	0.562																																					Melanoma(76;1255 1795 8195 52096)												0								ENSG00000121634						112	107	109					1																	147380140		2203	4300	6503	GJA8	SO:0001583	missense	0			-	HGNC	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.58G>A	1.37:g.147380140G>A	ENSP00000358238:p.Val20Ile	Somatic	0	35	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	17	67.92	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.V20I	ENST00000369235.1	37	c.58	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	19.76	3.887106	0.72410	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99105	-5.43;-5.43	5.03	4.12	0.48240	Connexin, N-terminal (1);	0.063532	0.64402	N	0.000008	D	0.98356	0.9454	L	0.58925	1.835	0.47819	D	0.99952	D	0.67145	0.996	P	0.60886	0.88	D	0.97715	1.0193	10	0.36615	T	0.2	.	13.6813	0.62487	0.0756:0.0:0.9244:0.0	.	20	P48165	CXA8_HUMAN	I	20	ENSP00000240986:V20I;ENSP00000358238:V20I	ENSP00000240986:V20I	V	+	1	0	GJA8	145846764	1.000000	0.71417	0.791000	0.31998	0.961000	0.63080	7.955000	0.87856	1.112000	0.41740	-0.194000	0.12790	GTC	-	pfam_Connexin_N		0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	protein_coding	OTTHUMT00000060647.1	G	NM_005267	-		147380140	1	no_errors	ENST00000240986	ensembl	human	known	74_37	missense	SNP	0.995	A	A	147380140	G	A	147380140	3	1	77	1	0	0	0	0	1	0	0	0	6407	1145	40	1	60	1	GJA8	1	147380140	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	35705983	147380140	101870481	4	4215											
TPR	7175	genome.wustl.edu	37	chr1	186313635	186313635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctgctccttcgcagcttGtagagcttcaacatcagcag	8	13	2	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr1:186313635G>T	ENST00000367478.4	-	25	3585	c.3289C>A	c.(3289-3291)Caa>Aaa	p.Q1097K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1097					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCGCAGCTTGTAGAGCTTCA	0.408			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0								ENSG00000047410						194	175	181					1																	186313635		1934	4159	6093	TPR	SO:0001583	missense	0			-	HGNC	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3289C>A	1.37:g.186313635G>T	ENSP00000356448:p.Gln1097Lys	Somatic	0	50	0		0.625730280766084	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP							pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q1097K	ENST00000367478.4	37	c.3289	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978122	0.92982	.	.	ENSG00000047410	ENST00000367478	T	0.27104	1.69	5.42	5.42	0.78866	Tetratricopeptide, MLP1/MLP2-like (1);	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.81112	2.525	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.51601	-0.8685	10	0.32370	T	0.25	.	19.2133	0.93766	0.0:0.0:1.0:0.0	.	1097	P12270	TPR_HUMAN	K	1097	ENSP00000356448:Q1097K	ENSP00000356448:Q1097K	Q	-	1	0	TPR	184580258	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.434000	0.97515	2.553000	0.86117	0.555000	0.69702	CAA	-	pfam_TPR_MLP1_2		0.408	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	protein_coding	OTTHUMT00000086353.2	G	NM_003292	-		186313635	-1	no_errors	ENST00000367478	ensembl	human	known	74_37	missense	SNP	1.000	T	T	186313635	G	T	186313635	3	4	77	1	0	0	0	0	1	0	0	0	16423	1386	48	3	3910	3	TPR	1	186313635	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	38933495	186313635	62936986	5	4216											
LRP2	4036	genome.wustl.edu	37	chr2	170062573	170062573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgctcttggttttggaaCgcgggctatcacagtgcggt	13	8	2	0	rs199918722		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr2:170062573C>T	ENST00000263816.3	-	40	7801	c.7516G>A	c.(7516-7518)Gtt>Att	p.V2506I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2506					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGTTTTGGAACGCGGGCTATC	0.423																																																	0								ENSG00000081479	C	ILE/VAL	0,4406		0,0,2203	153	148	150		7516	3.4	0	2		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2506/4656	170062573	1,13005	2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7516G>A	2.37:g.170062573C>T	ENSP00000263816:p.Val2506Ile	Somatic	0	18	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	2	88.89	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V2506I	ENST00000263816.3	37	c.7516	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800845	0.50315	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.93488	-3.23	6.17	3.37	0.38596	Six-bladed beta-propeller, TolB-like (1);	0.108694	0.64402	N	0.000007	D	0.84534	0.5493	N	0.16307	0.4	0.80722	D	1	B	0.31054	0.306	B	0.19391	0.025	T	0.78168	-0.2309	10	0.36615	T	0.2	.	10.2735	0.43497	0.2446:0.6928:0.0:0.0625	.	2506	P98164	LRP2_HUMAN	I	2506	ENSP00000263816:V2506I	ENSP00000263816:V2506I	V	-	1	0	LRP2	169770819	1.000000	0.71417	0.002000	0.10522	0.810000	0.45777	6.093000	0.71422	0.454000	0.26884	0.655000	0.94253	GTT	-	smart_LDLR_classB_rpt		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	rs199918722		170062573	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	0.815	T	T	170062573	C	T	170062573	3	4	77	1	0	0	0	0	1	0	0	0	8958	536	19	1	6611	1	LRP2	2	170062573	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		170062573	73136800	6	4217											
CERKL	375298	genome.wustl.edu	37	chr2	182403828	182403828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagacttacctaatatggAcctctgatgcaacttccatt	5	10	1	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr2:182403828A>G	ENST00000339098.5	-	13	1606	c.1607T>C	c.(1606-1608)gTc>gCc	p.V536A	CERKL_ENST00000410087.3_Missense_Mutation_p.V510A|CERKL_ENST00000374970.2_Missense_Mutation_p.V441A|CERKL_ENST00000374969.2_Missense_Mutation_p.V397A|CERKL_ENST00000409440.3_Missense_Mutation_p.V492A			Q49MI3	CERKL_HUMAN	ceramide kinase-like	536					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCTAATATGGACCTCTGATGC	0.378																																																	0								ENSG00000188452						138	132	134					2																	182403828		2203	4300	6503	CERKL	SO:0001583	missense	0			-	HGNC	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1607T>C	2.37:g.182403828A>G	ENSP00000341159:p.Val536Ala	Somatic	0	161	0		0.625730280766084	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	88	28	75.86	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP							pfam_Diacylglycerol_kinase_cat_dom	p.V536A	ENST00000339098.5	37	c.1607	CCDS42789.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323832	0.81580	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	M	0.76838	2.35	0.41341	D	0.9873	D;D;D;D;D	0.71674	0.998;0.995;0.997;0.992;0.997	P;P;D;P;P	0.63957	0.888;0.869;0.92;0.874;0.849	T	0.43686	-0.9376	10	0.87932	D	0	.	15.8884	0.79273	1.0:0.0:0.0:0.0	.	492;397;441;510;536	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	A	510;492;397;536;441	ENSP00000386725:V510A;ENSP00000387080:V492A;ENSP00000364108:V397A;ENSP00000341159:V536A;ENSP00000364109:V441A	ENSP00000341159:V536A	V	-	2	0	CERKL	182112073	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.642000	0.67888	2.209000	0.71365	0.533000	0.62120	GTC	-	NULL		0.378	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERKL	protein_coding	OTTHUMT00000334811.1	A		-		182403828	-1	no_errors	ENST00000339098	ensembl	human	known	74_37	missense	SNP	1.000	G	G	182403828	A	G	182403828	3	3	77	1	0	0	0	0	1	0	0	0	3270	275	10	5	77	5	CERKL	2	182403828	Missense_Mutation	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09	12341255	182403828	60795545	7	4218											
AQP12B	653437	genome.wustl.edu	37	chr2	241622006	241622006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtccaaggtgaccccGtgcgccaggaagagcaggaa	14	14	0	2	rs373980987		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr2:241622006G>A	ENST00000407834.3	-	1	311	c.249C>T	c.(247-249)caC>caT	p.H83H		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	71						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AGGTGACCCCGTGCGCCAGGA	0.677																																																	0								ENSG00000185176			0,4406		0,0,2203	50	51	51		249	0.1	0.6	2		51	1,8599		0,1,4299	no	coding-synonymous	AQP12B	NM_001102467.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		83/308	241622006	1,13005	2203	4300	6503	AQP12B	SO:0001819	synonymous_variant	0			-	HGNC	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.249C>T	2.37:g.241622006G>A		Somatic	0	127	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	88	22.12	A4QPB9	Silent	SNP							pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.H83	ENST00000407834.3	37	c.249	CCDS46560.1	2																																																																																			-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP		0.677	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	protein_coding	OTTHUMT00000325625.1	G		-		241622006	-1	no_errors	ENST00000407834	ensembl	human	known	74_37	silent	SNP	0.972	A	A	241622006	G	A	241622006	2	1	77	1	0	0	0	0	0	0	0	1	825	1136	40	1		1	AQP12B	2	241622006	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	59218178	241622006	1577367	8	4219											
C3orf15	89876	genome.wustl.edu	37	chr3	119462955	119462955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtcatgctggctgagcGccagcggcgggtacgagagg	17	10	1	2	rs201045322		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr3:119462955G>A	ENST00000273390.5	+	14	1891	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	441						mitochondrion (GO:0005739)											CTGGCTGAGCGCCAGCGGCGG	0.582																																																	0								ENSG00000183833						81	74	76					3																	119462955		2203	4300	6503	MAATS1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1814G>A	3.37:g.119462955G>A	ENSP00000273390:p.Arg605His	Somatic	0	21	0		0.625730280766084	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP							superfamily_S-AdoMet_deCO2ase_core	p.R605H	ENST00000273390.5	37	c.1814	CCDS2994.1	3	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	35	5.575518	0.96553	.	.	ENSG00000183833	ENST00000273390	T	0.29655	1.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.67608	-0.5627	10	0.72032	D	0.01	-12.6434	19.7305	0.96180	0.0:0.0:1.0:0.0	.	441;543;605	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	H	605	ENSP00000273390:R605H	ENSP00000273390:R605H	R	+	2	0	C3orf15	120945645	1.000000	0.71417	0.847000	0.33407	0.948000	0.59901	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGC	-	NULL		0.582	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	protein_coding	OTTHUMT00000355222.1	G	NM_033364	rs201045322		119462955	1	no_errors	ENST00000273390	ensembl	human	known	74_37	missense	SNP	0.994	A	A	119462955	G	A	119462955	3	1	77	1	0	0	0	0	1	0	0	0	2211	1087	38	1	1868	1	C3orf15	3	119462955	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		119462955	78559475	9	4220											
ASTE1	28990	genome.wustl.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T													ggtattctgtttcttctgccINStttttttttttgaatttgat							TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000533801.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)						ENSG00000034533																																			ASTE1	SO:0001589	frameshift_variant	0				HGNC	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.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs	Somatic	0	22	0		0.625730280766084	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS							pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			-	NULL		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	-	NM_014065			130733047	-1	no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_ins	INS	0.003:0.014	T	T	130733047	-	T	130733046	7	5	77	1	0	1	1	0	0	0	0	0	1062	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-DX-A6YR-01A-33D-A351-09	11270091	130733046	67289384	10	4221											
CP	1356	genome.wustl.edu	37	chr3	148924108	148924108	+	Frame_Shift_Del	DEL	A	A	-													tgttacactcctggacctggAaaaaggcttgcaaaccggct							TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr3:148924108delA	ENST00000264613.6	-	6	1317	c.1055delT	c.(1054-1056)ttcfs	p.F352fs		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	352	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGGACCTGGAAAAAGGCTTG	0.428																																																	0								ENSG00000047457						111	110	110					3																	148924108		2203	4300	6503	CP	SO:0001589	frameshift_variant	0				HGNC	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1055delT	3.37:g.148924108delA	ENSP00000264613:p.Phe352fs	Somatic	0	28	0		0.625730280766084	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q14063|Q2PP18|Q9UKS4	Frame_Shift_Del	DEL							pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.F352fs	ENST00000264613.6	37	c.1055	CCDS3141.1	3																																																																																			-	pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin		0.428	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	protein_coding	OTTHUMT00000317498.1	A	NM_000096			148924108	-1	no_errors	ENST00000264613	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	148924108	A	-	148924108	7	5	77	1	0	1	0	1	0	0	0	0	3789	246	9	0	2198	0	CP	3	148924108	Frame_Shift_Del	DEL	A	TCGA-DX-A6YR-01A-33D-A351-09	18191062	148924108	49098322	11	4222											
ARAP2	116984	genome.wustl.edu	37	chr4	36212335	36212335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcttccaccttgtcctcGcttattttctcctttctgtt	3	13	3	0	rs538850005		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr4:36212335G>A	ENST00000303965.4	-	6	1653	c.1164C>T	c.(1162-1164)agC>agT	p.S388S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	388					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						CCTTGTCCTCGCTTATTTTCT	0.338													G|||	1	0.000199681	0	0	5008	,	,		18462	0.001		0	False		,,,				2504	0																0								ENSG00000047365						118	125	123					4																	36212335		2202	4300	6502	ARAP2	SO:0001819	synonymous_variant	0			-	HGNC	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.1164C>T	4.37:g.36212335G>A		Somatic	0	21	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S388	ENST00000303965.4	37	c.1164	CCDS3441.1	4																																																																																			-	NULL		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	G	NM_015230	-		36212335	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	SNP	0.810	A	A	36212335	G	A	36212335	2	1	77	1	0	0	0	0	0	0	0	1	839	1078	38	1		1	ARAP2	4	36212335	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		36212335	154941941	12	4223											
SEPT11	55752	genome.wustl.edu	37	chr4	77952007	77952007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggaagacaagaagaaGgagcttgaggaggaggtgaa	17	2	0	5			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr4:77952007G>T	ENST00000264893.6	+	9	1359	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	SEPT11_ENST00000505788.1_Missense_Mutation_p.K386N|SEPT11_ENST00000541121.1_Missense_Mutation_p.K396N|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000502584.1_Missense_Mutation_p.K386N|SEPT11_ENST00000510515.1_Missense_Mutation_p.K396N	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	386					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						ACAAGAAGAAGGAGCTTGAGG	0.483																																																	0								ENSG00000138758						102	105	104					4																	77952007		2203	4300	6503	SEPT11	SO:0001583	missense	0			-	HGNC	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1158G>T	4.37:g.77952007G>T	ENSP00000264893:p.Lys386Asn	Somatic	0	42	0		0.625730280766084	84	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP							pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.K396N	ENST00000264893.6	37	c.1188	CCDS34018.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.61|16.61	3.170031|3.170031	0.57584|0.57584	.|.	.|.	ENSG00000138758|ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000505788;ENST00000510515;ENST00000541121;ENST00000502401|ENST00000506731	D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86|.	5.93|5.93	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.61640|0.61640	0.2363|0.2363	L|L	0.56199|0.56199	1.76|1.76	0.43385|0.43385	D|D	0.995497|0.995497	P;P|.	0.40731|.	0.728;0.608|.	P;B|.	0.44359|.	0.447;0.137|.	T|T	0.60120|0.60120	-0.7325|-0.7325	10|5	0.66056|.	D|.	0.02|.	.|.	10.9497|10.9497	0.47321|0.47321	0.1415:0.0:0.8585:0.0|0.1415:0.0:0.8585:0.0	.|.	396;386|.	Q9NVA2-2;Q9NVA2|.	.;SEP11_HUMAN|.	N|M	386;386;386;396;396;39|115	ENSP00000264893:K386N;ENSP00000426344:K386N;ENSP00000424925:K386N;ENSP00000422896:K396N;ENSP00000443701:K396N|.	ENSP00000264893:K386N|.	K|R	+|+	3|2	2|0	SEPT11|SEPT11	78171031|78171031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.000000|3.000000	0.49481|0.49481	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	AAG|AGG	-	pirsf_Septin		0.483	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	protein_coding	OTTHUMT00000362676.1	G	NM_018243	-		77952007	1	no_errors	ENST00000541121	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77952007	G	T	77952007	3	4	77	1	0	0	0	0	1	0	0	0	14069	991	35	3	1192	3	SEPT11	4	77952007	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	41739672	77952007	113202269	13	4224											
ING2	3622	genome.wustl.edu	37	chr4	184431445	184431445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttttagaaacgttaaaGgaaattgatgatgtctacga	8	4	1	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr4:184431445G>A	ENST00000302327.3	+	2	385	c.183G>A	c.(181-183)aaG>aaA	p.K61K	ING2_ENST00000434682.2_Silent_p.K21K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	61					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACGTTAAAGGAAATTGATG	0.308																																																	0								ENSG00000168556						69	81	77					4																	184431445		2160	4276	6436	ING2	SO:0001819	synonymous_variant	0			-	HGNC	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.183G>A	4.37:g.184431445G>A		Somatic	0	36	0		0.625730280766084	12	25	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	19	52.38	B6ZDS1|O95698	Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K61	ENST00000302327.3	37	c.183	CCDS3833.1	4																																																																																			-	NULL		0.308	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING2	protein_coding	OTTHUMT00000318652.1	G	NM_001564	-		184431445	1	no_errors	ENST00000302327	ensembl	human	known	74_37	silent	SNP	1.000	A	A	184431445	G	A	184431445	2	1	77	1	0	0	0	0	0	0	0	1	7738	991	35	2		2	ING2	4	184431445	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	106479438	184431445	6722831	14	4225											
FAT1	2195	genome.wustl.edu	37	chr4	187539627	187539627	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtaaaggtatagaaaggttCtgaaaattttggaagctgca	11	3	1	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr4:187539627C>A	ENST00000441802.2	-	10	8322	c.8113G>T	c.(8113-8115)Gaa>Taa	p.E2705*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2705	Cadherin 25. {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						TAGAAAGGTTCTGAAAATTTT	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						123	124	124					4																	187539627		1849	4087	5936	FAT1	SO:0001587	stop_gained	0			-	HGNC	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.8113G>T	4.37:g.187539627C>A	ENSP00000406229:p.Glu2705*	Somatic	0	31	0		0.625730280766084	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	7	75.00		Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E2705*	ENST00000441802.2	37	c.8113	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	49	15.460513	0.99834	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	18.8402	0.92180	0.0:1.0:0.0:0.0	.	.	.	.	X	2705;2707	.	ENSP00000260147:E2707X	E	-	1	0	FAT1	187776621	1.000000	0.71417	0.988000	0.46212	0.433000	0.31745	7.651000	0.83577	2.757000	0.94681	0.655000	0.94253	GAA	-	superfamily_Cadherin-like,pfscan_Cadherin		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245	-		187539627	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	187539627	C	A	187539627	4	1	77	1	0	0	0	0	0	1	0	0	5691	922	32	3	5725	3	FAT1	4	187539627	Nonsense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	3108182	187539627	3614649	15	4226											
HAPLN1	1404	genome.wustl.edu	37	chr5	82940427	82940427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagacacgcctgctgcGcctcgtgaaaattgagattg	12	11	0	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr5:82940427G>A	ENST00000274341.4	-	4	1380	c.530C>T	c.(529-531)gCg>gTg	p.A177V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	177	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGCCTGCTGCGCCTCGTGAAA	0.582																																																	0								ENSG00000145681						38	36	37					5																	82940427		2203	4300	6503	HAPLN1	SO:0001583	missense	0			-	HGNC		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.530C>T	5.37:g.82940427G>A	ENSP00000274341:p.Ala177Val	Somatic	0	41	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	B2R9A9	Missense_Mutation	SNP							pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.A177V	ENST00000274341.4	37	c.530	CCDS4061.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.268298	0.95429	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.8	5.8	0.92144	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88221	0.2897	10	0.87932	D	0	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	177	P10915	HPLN1_HUMAN	V	177;177;177;176	ENSP00000274341:A177V;ENSP00000422592:A177V;ENSP00000421341:A177V;ENSP00000426610:A176V	ENSP00000274341:A177V	A	-	2	0	HAPLN1	82976183	1.000000	0.71417	0.968000	0.41197	0.636000	0.38137	9.476000	0.97823	2.733000	0.93635	0.650000	0.86243	GCG	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.582	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN1	protein_coding	OTTHUMT00000239256.2	G	NM_001884	-		82940427	-1	no_errors	ENST00000274341	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82940427	G	A	82940427	3	1	77	1	0	0	0	0	1	0	0	0	6956	1087	38	1	542	1	HAPLN1	5	82940427	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		82940427	97974833	16	4227											
FTMT	94033	genome.wustl.edu	37	chr5	121187750	121187750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgcgctcccgctgcGttgggccccggggcgcccct	14	19	0	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr5:121187750G>A	ENST00000321339.1	+	1	101	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	31					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTCCCGCTGCGTTGGGCCCCG	0.771																																																	0								ENSG00000181867						10	11	11					5																	121187750		2179	4259	6438	FTMT	SO:0001583	missense	0			-	HGNC	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.92G>A	5.37:g.121187750G>A	ENSP00000313691:p.Arg31His	Somatic	0	24	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00		Missense_Mutation	SNP							pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R31H	ENST00000321339.1	37	c.92	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724205	0.30593	.	.	ENSG00000181867	ENST00000321339	T	0.65549	-0.16	3.06	2.16	0.27623	.	.	.	.	.	T	0.49201	0.1543	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.47603	0.551	T	0.32188	-0.9916	9	0.31617	T	0.26	.	9.5278	0.39175	0.0:0.0:0.7879:0.212	.	31	Q8N4E7	FTMT_HUMAN	H	31	ENSP00000313691:R31H	ENSP00000313691:R31H	R	+	2	0	FTMT	121215649	0.001000	0.12720	0.135000	0.22099	0.006000	0.05464	0.447000	0.21710	0.813000	0.34350	0.650000	0.86243	CGT	-	NULL		0.771	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	protein_coding	OTTHUMT00000250884.1	G	NM_177478	-		121187750	1	no_errors	ENST00000321339	ensembl	human	known	74_37	missense	SNP	0.371	A	A	121187750	G	A	121187750	3	1	77	1	0	0	0	0	1	0	0	0	6087	1145	40	1	94	1	FTMT	5	121187750	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	38247323	121187750	59727510	17	4228											
PCDHA6	56142	genome.wustl.edu	37	chr5	140208762	140208762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcctgtacgtgaagaCgctcaatttggtactgtcat	9	10	2	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr5:140208762C>T	ENST00000529310.1	+	1	1200	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.D362D|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_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	362	Cadherin 4. {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)			TACGTGAAGACGCTCAATTTG	0.498																																																	0								ENSG00000081842						116	112	113					5																	140208762		2203	4297	6500	PCDHA6	SO:0001819	synonymous_variant	0			-	HGNC	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.1086C>T	5.37:g.140208762C>T		Somatic	0	70	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	O75283|Q9NRT8	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D362	ENST00000529310.1	37	c.1086	CCDS47281.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.498	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	C	NM_018909	-		140208762	1	no_errors	ENST00000529310	ensembl	human	known	74_37	silent	SNP	0.935	T	T	140208762	C	T	140208762	2	4	77	1	0	0	0	0	0	0	0	1	11530	535	19	1		1	PCDHA6	5	140208762	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	19021012	140208762	40706498	18	4229											
OR2V2	285659	genome.wustl.edu	37	chr5	180582017	180582017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcccacagtactgctgaCcttgtcctcttctccgtggt	7	15	3	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr5:180582017C>A	ENST00000328275.1	+	1	75	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACTGCTGACCTTGTCCTCT	0.547																																																	0								ENSG00000182613						275	222	240					5																	180582017		2203	4300	6503	OR2V2	SO:0001583	missense	0			-	HGNC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.75C>A	5.37:g.180582017C>A	ENSP00000332185:p.Asp25Glu	Somatic	0	76	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	62	29.55	Q6IFL6|Q8NGV1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D25E	ENST00000328275.1	37	c.75	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	9.244	1.039021	0.19669	.	.	ENSG00000182613	ENST00000328275	T	0.00424	7.45	3.38	-6.75	0.01738	.	0.000000	0.38778	N	0.001580	T	0.00241	0.0007	N	0.02142	-0.665	0.09310	N	1	D	0.64830	0.994	D	0.72625	0.978	T	0.46484	-0.9188	10	0.05833	T	0.94	.	13.4866	0.61369	0.0:0.1345:0.0:0.8655	.	25	Q96R30	OR2V2_HUMAN	E	25	ENSP00000332185:D25E	ENSP00000332185:D25E	D	+	3	2	OR2V2	180514623	0.000000	0.05858	0.003000	0.11579	0.386000	0.30323	-2.033000	0.01425	-1.823000	0.01210	0.305000	0.20034	GAC	-	NULL		0.547	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	protein_coding	OTTHUMT00000253529.1	C		-		180582017	1	no_errors	ENST00000328275	ensembl	human	known	74_37	missense	SNP	0.000	A	A	180582017	C	A	180582017	3	1	77	1	0	0	0	0	1	0	0	0	11033	506	18	3	77	3	OR2V2	5	180582017	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	40373255	180582017	333243	19	4230											
TBC1D7	51256	genome.wustl.edu	37	chr6	13307950	13307950	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagtctgccatcttccaGattcaagtattgttcaaacg	7	11	4	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr6:13307950G>T	ENST00000379300.3	-	6	790	c.547C>A	c.(547-549)Ctg>Atg	p.L183M	TBC1D7_ENST00000379307.2_Missense_Mutation_p.L156M|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.L137M|TBC1D7_ENST00000607658.1_Missense_Mutation_p.L156M|TBC1D7_ENST00000356436.4_Missense_Mutation_p.L183M	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	183	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CCATCTTCCAGATTCAAGTAT	0.423																																																	0								ENSG00000145979						85	80	82					6																	13307950		2203	4300	6503	TBC1D7	SO:0001583	missense	0			-	HGNC	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.547C>A	6.37:g.13307950G>T	ENSP00000368602:p.Leu183Met	Somatic	0	39	0		0.625730280766084	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L183M	ENST00000379300.3	37	c.547	CCDS4523.1	6	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762114	0.69763	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	T;T;T;T;T;T;T;T;T	0.30981	2.71;2.71;2.71;1.92;2.71;2.71;2.71;2.71;1.51	6.17	5.31	0.75309	Rab-GAP/TBC domain (3);	0.130049	0.53938	D	0.000053	T	0.35941	0.0949	M	0.63428	1.95	0.41661	D	0.989183	P;D;P;B	0.54772	0.809;0.968;0.946;0.419	P;P;P;P	0.58331	0.575;0.837;0.672;0.475	T	0.11397	-1.0589	10	0.34782	T	0.22	-13.5968	14.5747	0.68238	0.0:0.0:0.7205:0.2795	.	137;156;156;183	Q2TU37;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;TBCD7_HUMAN	M	124;183;183;156;137;156;156;183;156;156	ENSP00000348813:L183M;ENSP00000368602:L183M;ENSP00000368609:L156M;ENSP00000343100:L137M;ENSP00000414292:L156M;ENSP00000404680:L156M;ENSP00000394425:L183M;ENSP00000417005:L156M;ENSP00000412102:L156M	ENSP00000334212:L124M	L	-	1	2	TBC1D7	13415929	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.355000	0.44107	1.643000	0.50594	-0.122000	0.15005	CTG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.423	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D7	protein_coding	OTTHUMT00000039896.2	G	NM_016495	-		13307950	-1	no_errors	ENST00000356436	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13307950	G	T	13307950	3	4	77	1	0	0	0	0	1	0	0	0	15631	933	33	3	346	3	TBC1D7	6	13307950	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		13307950	157807117	20	4231											
PKHD1	5314	genome.wustl.edu	37	chr6	51747956	51747956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcatcactttccaagaCgtcaattccaaaatctctgc	4	12	3	1	rs148284341		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr6:51747956C>T	ENST00000371117.3	-	46	7560	c.7285G>A	c.(7285-7287)Gtc>Atc	p.V2429I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2429I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2429					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)					CTTTCCAAGACGTCAATTCCA	0.368																																																	0								ENSG00000170927	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	92	79	83		7285,7285	3.1	1	6	dbSNP_134	83	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	2429/4075,2429/3397	51747956	2,13004	2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	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.7285G>A	6.37:g.51747956C>T	ENSP00000360158:p.Val2429Ile	Somatic	0	65	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	74	18.68	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.V2429I	ENST00000371117.3	37	c.7285	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	3.089	-0.187402	0.06299	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79033	-1.23;-1.23	5.6	3.13	0.36017	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.208186	0.42053	N	0.000775	T	0.15998	0.0385	N	0.00621	-1.32	0.18873	N	0.999984	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.44112	-0.9349	10	0.02654	T	1	.	7.6221	0.28191	0.0:0.1854:0.0:0.8146	.	2429;2429;2429	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	2429	ENSP00000360158:V2429I;ENSP00000341097:V2429I	ENSP00000341097:V2429I	V	-	1	0	PKHD1	51855915	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.936000	0.28938	0.371000	0.24564	-0.383000	0.06682	GTC	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1		0.368	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	C	NM_138694	rs148284341		51747956	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51747956	C	T	51747956	3	4	77	1	0	0	0	0	1	0	0	0	11973	536	19	1	5066	1	PKHD1	6	51747956	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	38440006	51747956	119367111	21	4232											
MYO1G	64005	genome.wustl.edu	37	chr7	45005706	45005706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaatgatggggatgaggCgggctcggctctgctccagt	16	10	1	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:45005706C>T	ENST00000258787.7	-	16	2259	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	708						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGGATGAGGCGGGCTCGGCT	0.632																																																	0								ENSG00000136286						67	64	65					7																	45005706		2203	4300	6503	MYO1G	SO:0001583	missense	0			-	HGNC	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2123G>A	7.37:g.45005706C>T	ENSP00000258787:p.Arg708His	Somatic	0	32	0		0.625730280766084	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R708H	ENST00000258787.7	37	c.2123	CCDS34629.1	7	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655067	0.29425	.	.	ENSG00000136286	ENST00000258787	T	0.73575	-0.76	4.69	0.588	0.17445	Myosin head, motor domain (1);	0.374933	0.19492	N	0.112963	T	0.62708	0.2450	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.52881	-0.8516	10	0.48119	T	0.1	.	8.789	0.34839	0.0:0.469:0.0:0.531	.	708	B0I1T2	MYO1G_HUMAN	H	708	ENSP00000258787:R708H	ENSP00000258787:R708H	R	-	2	0	MYO1G	44972231	0.000000	0.05858	0.015000	0.15790	0.982000	0.71751	0.058000	0.14301	-0.124000	0.11724	-0.254000	0.11334	CGC	-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.632	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1G	protein_coding	OTTHUMT00000341832.2	C		-		45005706	-1	no_errors	ENST00000258787	ensembl	human	known	74_37	missense	SNP	0.001	T	T	45005706	C	T	45005706	3	4	77	1	0	0	0	0	1	0	0	0	10076	768	27	1	961	1	MYO1G	7	45005706	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		45005706	114132957	22	4233											
BCL7B	9275	genome.wustl.edu	37	chr7	72951686	72951686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacagaagcgcttcaggGgcggggcacctgagtcttcc	13	14	2	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:72951686G>A	ENST00000223368.2	-	6	974	c.551C>T	c.(550-552)cCc>cTc	p.P184L	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Missense_Mutation_p.P127L	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	184							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTTCAGGGGCGGGGCACC	0.632																																																	0								ENSG00000106635						66	69	68					7																	72951686		2203	4300	6503	BCL7B	SO:0001583	missense	0			-	HGNC	X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.551C>T	7.37:g.72951686G>A	ENSP00000223368:p.Pro184Leu	Somatic	0	55	0		0.625730280766084	58	31.76	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP							pfam_BCL7	p.P184L	ENST00000223368.2	37	c.551	CCDS5550.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622985	0.46840	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.51817	0.69	5.13	4.25	0.50352	.	0.054468	0.64402	D	0.000001	T	0.38108	0.1028	L	0.41492	1.28	0.53005	D	0.999967	B;B	0.17852	0.012;0.024	B;B	0.12837	0.006;0.008	T	0.31392	-0.9945	10	0.87932	D	0	.	9.656	0.39925	0.0939:0.0:0.9061:0.0	.	127;184	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	L	184;127	ENSP00000223368:P184L	ENSP00000223368:P184L	P	-	2	0	BCL7B	72589622	1.000000	0.71417	0.948000	0.38648	0.959000	0.62525	3.935000	0.56560	1.398000	0.46701	-0.272000	0.10252	CCC	-	NULL		0.632	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	protein_coding	OTTHUMT00000252194.1	G	NM_001707	-		72951686	-1	no_errors	ENST00000223368	ensembl	human	known	74_37	missense	SNP	0.954	A	A	72951686	G	A	72951686	3	1	77	1	0	0	0	0	1	0	0	0	1379	1232	43	2	61	2	BCL7B	7	72951686	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	27945980	72951686	86186977	23	4234											
TRPV5	56302	genome.wustl.edu	37	chr7	142627168	142627168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgcaaaagcctcacAtgtggtgggctcaaagacca	9	12	2	1	rs367563090		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:142627168A>G	ENST00000265310.1	-	3	682	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	TRPV5_ENST00000442623.1_Missense_Mutation_p.C112R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	112					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AAAGCCTCACATGTGGTGGGC	0.547																																																	0								ENSG00000127412	A	ARG/CYS	1,4405	2.1+/-5.4	0,1,2202	99	96	97		334	3.1	0.3	7		97	0,8600		0,0,4300	no	missense	TRPV5	NM_019841.4	180	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	112/730	142627168	1,13005	2203	4300	6503	TRPV5	SO:0001583	missense	0			-	HGNC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.334T>C	7.37:g.142627168A>G	ENSP00000265310:p.Cys112Arg	Somatic	0	32	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.C112R	ENST00000265310.1	37	c.334	CCDS5875.1	7	.	.	.	.	.	.	.	.	.	.	A	10.36	1.328983	0.24167	2.27E-4	0.0	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.52057	0.68;0.68;0.68	4.32	3.11	0.35812	Ankyrin repeat-containing domain (3);	0.228496	0.47093	D	0.000260	T	0.36826	0.0981	N	0.10707	0.03	0.51482	D	0.999922	P;P	0.41080	0.605;0.737	P;B	0.50708	0.648;0.381	T	0.21552	-1.0242	10	0.41790	T	0.15	-15.3499	9.9603	0.41693	0.8287:0.1713:0.0:0.0	.	112;112	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	R	112;106;112	ENSP00000265310:C112R;ENSP00000406361:C106R;ENSP00000406572:C112R	ENSP00000265310:C112R	C	-	1	0	TRPV5	142337290	0.993000	0.37304	0.291000	0.24904	0.008000	0.06430	3.138000	0.50570	0.757000	0.33036	0.379000	0.24179	TGT	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,tigrfam_TRP_channel		0.547	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	protein_coding	OTTHUMT00000347660.1	A	NM_019841	-		142627168	-1	no_errors	ENST00000265310	ensembl	human	known	74_37	missense	SNP	0.779	G	G	142627168	A	G	142627168	3	3	77	1	0	0	0	0	1	0	0	0	16606	217	8	5	1907	5	TRPV5	7	142627168	Missense_Mutation	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09	69675482	142627168	16511495	24	4235											
CNTNAP2	26047	genome.wustl.edu	37	chr7	148080943	148080943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctctcccccatgtcgtcCgccaccgacccctggcacct	6	23	1	0	rs201219937	byFrequency	TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:148080943C>T	ENST00000361727.3	+	22	4194	c.3678C>T	c.(3676-3678)tcC>tcT	p.S1226S	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.S285S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1226					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCATGTCGTCCGCCACCGACC	0.597										HNSCC(39;0.1)																																							0								ENSG00000174469						22	23	23					7																	148080943		2203	4300	6503	CNTNAP2	SO:0001819	synonymous_variant	0			-	HGNC	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3678C>T	7.37:g.148080943C>T		Somatic	0	42	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	66	18.52	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1226	ENST00000361727.3	37	c.3678	CCDS5889.1	7																																																																																			-	NULL		0.597	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	protein_coding	OTTHUMT00000327668.1	C		-		148080943	1	no_errors	ENST00000361727	ensembl	human	known	74_37	silent	SNP	0.004	T	T	148080943	C	T	148080943	2	4	77	1	0	0	0	0	0	0	0	1	3649	639	23	1		1	CNTNAP2	7	148080943	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	5453775	148080943	11057720	25	4236											
ZNF467	168544	genome.wustl.edu	37	chr7	149462898	149462898	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcgtgcgcaggtggcgggtCagatgggccttcttgctgaa	17	9	2	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:149462898C>A	ENST00000302017.3	-	5	1106	c.693G>T	c.(691-693)ctG>ctT	p.L231L	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGGCGGGTCAGATGGGCCT	0.682																																																	0								ENSG00000181444						18	16	17					7																	149462898		2201	4297	6498	ZNF467	SO:0001819	synonymous_variant	0			-	HGNC	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.693G>T	7.37:g.149462898C>A		Somatic	0	34	0		0.625730280766084	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41		Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L231	ENST00000302017.3	37	c.693	CCDS5899.1	7																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	protein_coding	OTTHUMT00000349833.1	C	NM_207336	-		149462898	-1	no_errors	ENST00000302017	ensembl	human	known	74_37	silent	SNP	1.000	A	A	149462898	C	A	149462898	2	1	77	1	0	0	0	0	0	0	0	1	17934	813	29	3		3	ZNF467	7	149462898	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	1381955	149462898	9675765	26	4237											
SSPO	23145	genome.wustl.edu	37	chr7	149480380	149480380	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactcccagcgccacgccttCgcagaggcggcctgtgccat	11	18	0	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:149480380C>T	ENST00000378016.2	+	0	2262							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCACGCCTTCGCAGAGGCGG	0.642																																																	0								ENSG00000197558						44	49	47					7																	149480380		2108	4215	6323	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480380C>T		Somatic	0	30	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C		-		149480380	1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	0.000	T	T	149480380	C	T	149480380	1	4	77	0	1	0	0	0	0	0	0	0	15196	883	31	1		1	SSPO	7	149480380	RNA	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	17482	149480380	9658283	27	4238											
KCNH2	3757	genome.wustl.edu	37	chr7	150642533	150642533	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggtagggagaggcgtcGtgtggggccttcttggggaa	20	8	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr7:150642533G>A	ENST00000262186.5	-	15	3801	c.3400C>T	c.(3400-3402)Cga>Tga	p.R1134*	KCNH2_ENST00000392968.2_Nonsense_Mutation_p.R1038*|KCNH2_ENST00000330883.4_Nonsense_Mutation_p.R794*	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1134					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)	GAGAGGCGTCGTGTGGGGCCT	0.677																																					GBM(137;110 1844 13671 20123 45161)												0			GRCh37	CD057243	KCNH2	D		ENSG00000055118						9	10	10					7																	150642533		2161	4248	6409	KCNH2	SO:0001587	stop_gained	0			-	HGNC	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.3400C>T	7.37:g.150642533G>A	ENSP00000262186:p.Arg1134*	Somatic	0	40	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	32	50.00	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Nonsense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R1134*	ENST00000262186.5	37	c.3400	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	G	43	10.163859	0.99350	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	.	.	.	5.09	4.2	0.49525	.	0.000000	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.807	0.46524	0.0:0.0:0.8105:0.1895	.	.	.	.	X	794;1038;1134	.	ENSP00000262186:R1134X	R	-	1	2	KCNH2	150273466	0.930000	0.31532	0.989000	0.46669	0.430000	0.31655	2.525000	0.45598	1.111000	0.41721	0.557000	0.71058	CGA	-	NULL		0.677	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	protein_coding	OTTHUMT00000350741.2	G	NM_000238	-		150642533	-1	no_errors	ENST00000262186	ensembl	human	known	74_37	nonsense	SNP	0.996	A	A	150642533	G	A	150642533	4	1	77	1	0	0	0	0	0	1	0	0	8034	1153	40	1	83	1	KCNH2	7	150642533	Nonsense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	1162153	150642533	8496130	28	4239											
COL22A1	169044	genome.wustl.edu	37	chr8	139606332	139606332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggctcccccatggggcCggcccggcctggaagcccat	13	18	0	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr8:139606332C>T	ENST00000303045.6	-	63	4989	c.4543G>A	c.(4543-4545)Ggc>Agc	p.G1515S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1495S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1515	Collagen-like 15.|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)		p.G1515C(1)		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)			CCCATGGGGCCGGCCCGGCCT	0.652										HNSCC(7;0.00092)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000169436						28	32	30					8																	139606332		2203	4300	6503	COL22A1	SO:0001583	missense	0			-	HGNC	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.4543G>A	8.37:g.139606332C>T	ENSP00000303153:p.Gly1515Ser	Somatic	0	90	0		0.625730280766084	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP							pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1515S	ENST00000303045.6	37	c.4543	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648643	0.87958	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99527	-6.09;-6.09	5.92	5.92	0.95590	.	0.000000	0.50627	D	0.000102	D	0.99680	0.9880	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97924	1.0316	10	0.87932	D	0	.	19.3539	0.94402	0.0:1.0:0.0:0.0	.	1495;1515	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1515;1495;1208	ENSP00000303153:G1515S;ENSP00000387655:G1495S	ENSP00000303153:G1515S	G	-	1	0	COL22A1	139675514	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	7.453000	0.80700	2.820000	0.97059	0.650000	0.86243	GGC	-	pfam_Collagen		0.652	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	C	XM_291257	-		139606332	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139606332	C	T	139606332	3	4	77	1	0	0	0	0	1	0	0	0	3683	652	23	1	349	1	COL22A1	8	139606332	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		139606332	6757690	29	4240											
NXNL2	158046	genome.wustl.edu	37	chr9	91150536	91150536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgaggcgcggcggcccGcgcccttcgaagtggtcttc	16	15	1	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr9:91150536G>A	ENST00000375854.3	+	1	521	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	NXNL2_ENST00000375855.3_Missense_Mutation_p.A63T|NXNL2_ENST00000487646.2_3'UTR	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	63	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)					lung(3)	3						GCGGCGGCCCGCGCCCTTCGA	0.706																																																	0								ENSG00000130045						14	20	18					9																	91150536		2180	4275	6455	NXNL2	SO:0001583	missense	0			-	HGNC	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"chromosome 9 open reading frame 121"	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.187G>A	9.37:g.91150536G>A	ENSP00000365014:p.Ala63Thr	Somatic	0	11	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	B1AMD0|Q8TBG6	Missense_Mutation	SNP							superfamily_Thioredoxin-like_fold	p.A63T	ENST00000375854.3	37	c.187	CCDS55325.1	9	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138513	0.77775	.	.	ENSG00000130045	ENST00000375854;ENST00000375855	T;T	0.80480	-1.38;-1.38	3.95	3.95	0.45737	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.939	D	0.84003	0.0344	10	0.18710	T	0.47	-15.7778	16.176	0.81851	0.0:0.0:1.0:0.0	.	63;63	Q5VZ03;Q5VZ03-3	NXNL2_HUMAN;.	T	63	ENSP00000365014:A63T;ENSP00000365015:A63T	ENSP00000365014:A63T	A	+	1	0	NXNL2	90340356	1.000000	0.71417	0.938000	0.37757	0.125000	0.20455	8.384000	0.90160	2.040000	0.60383	0.491000	0.48974	GCG	-	superfamily_Thioredoxin-like_fold		0.706	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NXNL2	protein_coding		G	NM_145283	-		91150536	1	no_errors	ENST00000375854	ensembl	human	known	74_37	missense	SNP	0.997	A	A	91150536	G	A	91150536	3	1	77	1	0	0	0	0	1	0	0	0	10791	1087	38	1	189	1	NXNL2	9	91150536	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		91150536	50062895	30	4241											
RGS3	5998	genome.wustl.edu	37	chr9	116359104	116359104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacctgcagagcgtcacGcggggctgcttcgacctggc	14	14	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr9:116359104G>A	ENST00000374140.2	+	26	3677	c.3468G>A	c.(3466-3468)acG>acA	p.T1156T	RGS3_ENST00000350696.5_Silent_p.T1156T|RGS3_ENST00000343817.5_Silent_p.T875T|RGS3_ENST00000342620.5_Silent_p.T126T|RGS3_ENST00000394646.3_Silent_p.T549T|RGS3_ENST00000374134.3_Silent_p.T477T|RGS3_ENST00000462403.1_Silent_p.T269T|RGS3_ENST00000462143.1_Silent_p.T477T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1156	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGCGTCACGCGGGGCTGCT	0.607																																																	0								ENSG00000138835						136	106	116					9																	116359104		2203	4300	6503	RGS3	SO:0001819	synonymous_variant	0			-	HGNC	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3468G>A	9.37:g.116359104G>A		Somatic	0	72	0		0.625730280766084	232	1.28	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	77	17.20	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP							pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.T1156	ENST00000374140.2	37	c.3468	CCDS43869.1	9																																																																																			-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam		0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	protein_coding	OTTHUMT00000055561.3	G	NM_017790	-		116359104	1	no_errors	ENST00000350696	ensembl	human	known	74_37	silent	SNP	0.345	A	A	116359104	G	A	116359104	2	1	77	1	0	0	0	0	0	0	0	1	13314	1074	38	1		1	RGS3	9	116359104	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	25208568	116359104	24854327	31	4242											
MEGF9	1955	genome.wustl.edu	37	chr9	123476543	123476548	+	In_Frame_Del	DEL	CGGCGG	CGGCGG	-													cgccgaggcggctgaggcgaCggcggcggcggcggcggcgg					rs200946879|rs369989873	byFrequency	TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	CGGCGG	CGGCGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr9:123476543_123476548delCGGCGG	ENST00000373930.3	-	1	200_205	c.89_94delCCGCCG	c.(88-96)gccgccgtc>gtc	p.AA30del	MEGF9_ENST00000426959.1_In_Frame_Del_p.AA22del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	30	Ala-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						gctgaggcgacggcggcggcggcggc	0.782														3349	0.66873	0.6044	0.7637	5008	,	,		7106	0.5853		0.7058	False		,,,				2504	0.7362																0								ENSG00000106780			26,6		13,0,3						2.8	0.2		dbSNP_119	1	80,32		39,2,15	no	coding	MEGF9	NM_001080497.2		52,2,18	A1A1,A1R,RR		28.5714,18.75,26.3889				106,38				MEGF9	SO:0001651	inframe_deletion	0				HGNC	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.89_94delCCGCCG	9.37:g.123476549_123476554delCGGCGG	ENSP00000363040:p.Ala30_Ala31del	Somatic					0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z315|O75098	In_Frame_Del	DEL							pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.AA22in_frame_del	ENST00000373930.3	37	c.70_65	CCDS48010.2	9																																																																																			-	NULL		0.782	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	protein_coding	OTTHUMT00000055513.1	CGGCGG	NM_001080497			123476548	-1	no_errors	ENST00000426959	ensembl	human	known	74_37	in_frame_del	DEL	0.255:0.243:0.247:0.263:0.993:0.998	-	-	123476548	CGGCGG	-	123476543	7	5	77	1	0	1	0	1	0	0	0	0	9466	536	19	0	1881	0	MEGF9	9	123476543	In_Frame_Del	DEL	CGGCGG	TCGA-DX-A6YR-01A-33D-A351-09	7117439	123476543	17736888	32	4243											
ZNF37A	7587	genome.wustl.edu	37	chr10	38406967	38406967	+	Frame_Shift_Del	DEL	A	A	-													cagagaacacacacagggggAaaaccctatgaatgtcatga							TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:38406967delA	ENST00000361085.5	+	7	1233	c.888delA	c.(886-888)ggafs	p.G296fs	ZNF37A_ENST00000351773.3_Frame_Shift_Del_p.G296fs	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	296					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(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACACAGGGGGAAAACCCTATG	0.413																																																	0								ENSG00000075407						68	71	70					10																	38406967		2203	4298	6501	ZNF37A	SO:0001589	frameshift_variant	0				HGNC	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.888delA	10.37:g.38406967delA	ENSP00000354377:p.Gly296fs	Somatic	0	53	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	B3KRQ3|D3DRZ3|Q96B88	Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K297fs	ENST00000361085.5	37	c.888	CCDS31183.1	10																																																																																			-	pfscan_Znf_C2H2		0.413	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	protein_coding	OTTHUMT00000047624.2	A	NM_003421			38406967	1	no_errors	ENST00000351773	ensembl	human	known	74_37	frame_shift_del	DEL	0.714	-	-	38406967	A	-	38406967	7	5	77	1	0	1	0	1	0	0	0	0	17879	233	9	0	902	0	ZNF37A	10	38406967	Frame_Shift_Del	DEL	A	TCGA-DX-A6YR-01A-33D-A351-09		38406967	97127780	33	4244											
ANK3	288	genome.wustl.edu	37	chr10	61834026	61834026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actagaggtggtgggctttgGttccaattccataaaagtag	12	6	0	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:61834026G>T	ENST00000280772.2	-	37	6804	c.6613C>A	c.(6613-6615)Cca>Aca	p.P2205T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2205					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)			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						GTGGGCTTTGGTTCCAATTCC	0.443																																																	0								ENSG00000151150						138	136	137					10																	61834026		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.6613C>A	10.37:g.61834026G>T	ENSP00000280772:p.Pro2205Thr	Somatic	0	34	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P2205T	ENST00000280772.2	37	c.6613	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560586	0.27827	.	.	ENSG00000151150	ENST00000280772	T	0.62364	0.03	6.05	4.06	0.47325	.	0.000000	0.41605	D	0.000847	T	0.52468	0.1736	L	0.48642	1.525	0.80722	D	1	B	0.27625	0.183	B	0.22386	0.039	T	0.52682	-0.8543	10	0.42905	T	0.14	.	12.0451	0.53475	0.0662:0.1208:0.813:0.0	.	2205	Q12955	ANK3_HUMAN	T	2205	ENSP00000280772:P2205T	ENSP00000280772:P2205T	P	-	1	0	ANK3	61504032	0.995000	0.38212	0.994000	0.49952	0.657000	0.38888	2.402000	0.44521	2.875000	0.98604	0.643000	0.83706	CCA	-	NULL		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61834026	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	0.998	T	T	61834026	G	T	61834026	3	4	77	1	0	0	0	0	1	0	0	0	622	1261	44	3	6861	3	ANK3	10	61834026	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	23427059	61834026	73700721	34	4245											
C10orf54	64115	genome.wustl.edu	37	chr10	73521633	73521633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaggtctgcacctcgCccctcgagctgcggtaccac	11	17	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:73521633C>T	ENST00000394957.3	-	2	291	c.233G>A	c.(232-234)gGc>gAc	p.G78D	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	78	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTGCACCTCGCCCCTCGAGCT	0.647																																																	0								ENSG00000107738						104	91	95					10																	73521633		2203	4300	6503	C10orf54	SO:0001583	missense	0			-	HGNC	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.233G>A	10.37:g.73521633C>T	ENSP00000378409:p.Gly78Asp	Somatic	0	24	0		0.625730280766084	71	12.35	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G78D	ENST00000394957.3	37	c.233	CCDS31218.1	10	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876501	0.51801	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.02863	4.13	4.46	4.46	0.54185	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.573727	0.21247	N	0.077720	T	0.10766	0.0263	M	0.65975	2.015	0.09310	N	0.999999	D;D	0.69078	0.997;0.983	D;P	0.63283	0.913;0.709	T	0.04781	-1.0927	10	0.36615	T	0.2	-7.9643	13.1341	0.59399	0.0:0.8388:0.1612:0.0	.	74;78	Q2TA85;Q9H7M9	.;GI24_HUMAN	D	78;74	ENSP00000378409:G78D	ENSP00000263569:G74D	G	-	2	0	C10orf54	73191639	0.034000	0.19679	0.114000	0.21550	0.949000	0.60115	3.268000	0.51585	2.767000	0.95098	0.655000	0.94253	GGC	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.647	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf54	protein_coding	OTTHUMT00000048548.1	C	NM_022153	-		73521633	-1	no_errors	ENST00000394957	ensembl	human	known	74_37	missense	SNP	0.018	T	T	73521633	C	T	73521633	3	4	77	1	0	0	0	0	1	0	0	0	1609	739	26	2	726	2	C10orf54	10	73521633	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	11687607	73521633	62013114	35	4246											
KCNMA1	3778	genome.wustl.edu	37	chr10	79397225	79397225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcttgggctcgtggaccgagGacgaggaggaagaggaggag	20	6	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:79397225G>T	ENST00000286628.8	-	1	175	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	KCNMA1_ENST00000372443.1_Missense_Mutation_p.S59Y|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S59Y|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S59Y|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S59Y|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S59Y|KCNMA1_ENST00000480683.1_Missense_Mutation_p.S59Y|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S59Y|KCNMA1_ENST00000286627.5_Missense_Mutation_p.S59Y|KCNMA1_ENST00000481070.1_Missense_Mutation_p.S59Y	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	59	Poly-Ser.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GTGGACCgaggacgaggagga	0.607																																																	0								ENSG00000156113						38	33	35					10																	79397225		2203	4300	6503	KCNMA1	SO:0001583	missense	0			-	HGNC	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.176C>A	10.37:g.79397225G>T	ENSP00000286628:p.Ser59Tyr	Somatic	0	37	0		0.625730280766084	14	30	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	24.19	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.S59Y	ENST00000286628.8	37	c.176		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.167038|4.167038	0.78339|0.78339	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000457953;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.|T;T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95;0.95	3.6|3.6	3.6|3.6	0.41247|0.41247	.|.	.|0.269330	.|0.25964	.|U	.|0.027180	T|T	0.45875|0.45875	0.1364|0.1364	N|N	0.14661|0.14661	0.345|0.345	0.37372|0.37372	D|D	0.911673|0.911673	.|D;D;D;D;P;D;D	.|0.89917	.|0.998;1.0;0.972;0.994;0.956;0.984;0.972	.|D;D;D;D;D;D;D	.|0.85130	.|0.99;0.997;0.962;0.983;0.923;0.983;0.962	T|T	0.58188|0.58188	-0.7680|-0.7680	5|10	.|0.72032	.|D	.|0.01	-4.0831|-4.0831	12.9702|12.9702	0.58508|0.58508	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|59;59;59;59;59;59;59	.|D5MRH1;Q12791-6;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.|.;.;.;.;KCMA1_HUMAN;.;.	T|Y	10|59;33;59;59;33;59;59;59	.|ENSP00000361517:S59Y;ENSP00000396608:S33Y;ENSP00000361520:S59Y;ENSP00000286627:S59Y;ENSP00000385552:S59Y;ENSP00000346321:S59Y;ENSP00000385806:S59Y	.|ENSP00000286627:S59Y	P|S	-|-	1|2	0|0	KCNMA1|KCNMA1	79067231|79067231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.327000|4.327000	0.59247|0.59247	1.940000|1.940000	0.56252|0.56252	0.455000|0.455000	0.32223|0.32223	CCT|TCC	-	NULL		0.607	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	protein_coding	OTTHUMT00000048885.3	G	NM_002247	-		79397225	-1	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79397225	G	T	79397225	3	4	77	1	0	0	0	0	1	0	0	0	8075	1174	41	3	3818	3	KCNMA1	10	79397225	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	5875592	79397225	56137522	36	4247			1	52		2	2	19	G		5.058546e-05
KCNMA1	3778	genome.wustl.edu	37	chr10	79397243	79397243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacgaggaggaagaggagGaggaagaagaagaagaggaa	20	1	0	5			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:79397243G>A	ENST00000286628.8	-	1	157	c.158C>T	c.(157-159)tCc>tTc	p.S53F	KCNMA1_ENST00000372443.1_Missense_Mutation_p.S53F|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S53F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S53F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S53F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S53F|KCNMA1_ENST00000480683.1_Missense_Mutation_p.S53F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S53F|KCNMA1_ENST00000286627.5_Missense_Mutation_p.S53F|KCNMA1_ENST00000481070.1_Missense_Mutation_p.S53F	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	53	Poly-Ser.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ggaagaggaggaggaagaaga	0.592																																																	0								ENSG00000156113						30	26	28					10																	79397243		2203	4300	6503	KCNMA1	SO:0001583	missense	0			-	HGNC	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.158C>T	10.37:g.79397243G>A	ENSP00000286628:p.Ser53Phe	Somatic	0	27	0		0.625730280766084	7	30	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.S53F	ENST00000286628.8	37	c.158		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.69|12.69	2.015079|2.015079	0.35511|0.35511	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000457953;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.|T;T;T;T;D;T;T;T	.|0.85013	.|0.88;0.88;0.88;0.88;-1.93;0.88;0.88;0.88	3.33|3.33	1.41|1.41	0.22369|0.22369	.|.	.|0.806035	.|0.10124	.|U	.|0.712982	T|T	0.70561|0.70561	0.3238|0.3238	N|N	0.08118|0.08118	0|0	0.22292|0.22292	N|N	0.999229|0.999229	.|P;P;B;B;P;B;B	.|0.44090	.|0.712;0.81;0.006;0.028;0.826;0.011;0.006	.|B;B;B;B;B;B;B	.|0.43536	.|0.19;0.423;0.003;0.008;0.188;0.008;0.003	T|T	0.62115|0.62115	-0.6922|-0.6922	5|10	.|0.49607	.|T	.|0.09	0.0109|0.0109	4.7693|4.7693	0.13148|0.13148	0.2977:0.0:0.7023:0.0|0.2977:0.0:0.7023:0.0	.|.	.|53;53;53;53;53;53;53	.|D5MRH1;Q12791-6;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7	.|.;.;.;.;KCMA1_HUMAN;.;.	S|F	4|53;27;53;53;27;53;53;53	.|ENSP00000361517:S53F;ENSP00000396608:S27F;ENSP00000361520:S53F;ENSP00000286627:S53F;ENSP00000286628:S27F;ENSP00000385552:S53F;ENSP00000346321:S53F;ENSP00000385806:S53F	.|ENSP00000286627:S53F	P|S	-|-	1|2	0|0	KCNMA1|KCNMA1	79067249|79067249	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	.|.	.|.	0.673000|0.673000	0.31224|0.31224	0.455000|0.455000	0.32223|0.32223	CCT|TCC	-	NULL		0.592	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	protein_coding	OTTHUMT00000048885.3	G	NM_002247	-		79397243	-1	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	SNP	0.999	A	A	79397243	G	A	79397243	3	1	77	1	0	0	0	0	1	0	0	0	8075	1174	41	2	3836	2	KCNMA1	10	79397243	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	18	79397243	56137504	37	4248			1	52		2	2	19	G		5.058546e-05
MMRN2	79812	genome.wustl.edu	37	chr10	88717176	88717176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtcctcagcctctgccttCcagaccccaggtgtcctgga	10	16	2	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:88717176C>T	ENST00000372027.5	-	1	444	c.123G>A	c.(121-123)tgG>tgA	p.W41*	SNCG_ENST00000348795.4_5'Flank|SNCG_ENST00000372017.3_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	41					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCTCTGCCTTCCAGACCCCAG	0.652																																																	0								ENSG00000173269						99	99	99					10																	88717176		2203	4300	6503	MMRN2	SO:0001587	stop_gained	0			-	HGNC	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.123G>A	10.37:g.88717176C>T	ENSP00000361097:p.Trp41*	Somatic	0	68	0		0.625730280766084	34	2.86	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	Q504V7|Q6P2N2	Nonsense_Mutation	SNP							pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.W41*	ENST00000372027.5	37	c.123	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029177	0.75504	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	.	.	.	3.99	1.08	0.20341	.	0.566996	0.16172	N	0.226231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-3.8335	3.4482	0.07488	0.2002:0.5839:0.0:0.2159	.	.	.	.	X	41	.	ENSP00000361097:W41X	W	-	3	0	MMRN2	88707156	0.222000	0.23652	0.002000	0.10522	0.090000	0.18270	1.169000	0.31871	0.240000	0.21263	0.462000	0.41574	TGG	-	NULL		0.652	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	protein_coding	OTTHUMT00000049179.2	C	NM_024756	-		88717176	-1	no_errors	ENST00000372027	ensembl	human	known	74_37	nonsense	SNP	0.002	T	T	88717176	C	T	88717176	4	4	77	1	0	0	0	0	0	1	0	0	9673	856	30	2	2754	2	MMRN2	10	88717176	Nonsense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	9319933	88717176	46817571	38	4249											
HPSE2	60495	genome.wustl.edu	37	chr10	100242511	100242511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagttgatgataaaaaGtgtaatggacccacgaacgt	10	6	0	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:100242511G>T	ENST00000370552.3	-	11	1554	c.1495C>A	c.(1495-1497)Ctt>Att	p.L499I	HPSE2_ENST00000404542.1_Missense_Mutation_p.L387I|HPSE2_ENST00000370549.1_Missense_Mutation_p.L441I|HPSE2_ENST00000370546.1_Missense_Mutation_p.L499I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	499					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATGATAAAAAGTGTAATGGAC	0.433																																																	0								ENSG00000172987						109	96	100					10																	100242511		2203	4300	6503	HPSE2	SO:0001583	missense	0			-	HGNC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1495C>A	10.37:g.100242511G>T	ENSP00000359583:p.Leu499Ile	Somatic	0	45	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP							pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.L499I	ENST00000370552.3	37	c.1495	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264929	0.40095	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.49720	0.77;0.82;1.06;0.79	5.34	5.34	0.76211	.	0.073806	0.52532	D	0.000080	T	0.34395	0.0896	N	0.20845	0.615	0.48288	D	0.99962	B;B;B;B	0.20052	0.041;0.021;0.037;0.002	B;B;B;B	0.21151	0.033;0.022;0.028;0.008	T	0.08994	-1.0695	10	0.33141	T	0.24	-6.9312	14.6935	0.69103	0.0716:0.0:0.9284:0.0	.	387;499;441;499	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	I	499;441;499;387	ENSP00000359583:L499I;ENSP00000359580:L441I;ENSP00000359577:L499I;ENSP00000384384:L387I	ENSP00000359577:L499I	L	-	1	0	HPSE2	100232501	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.381000	0.59587	2.677000	0.91161	0.655000	0.94253	CTT	-	NULL		0.433	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	protein_coding	OTTHUMT00000049789.1	G	NM_021828	-		100242511	-1	no_errors	ENST00000370552	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100242511	G	T	100242511	3	4	77	1	0	0	0	0	1	0	0	0	7347	1029	36	3	329	3	HPSE2	10	100242511	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	11525335	100242511	35292236	39	4250											
HPSE2	60495	genome.wustl.edu	37	chr10	100503735	100503735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagttattgggattaCgacgcagtgcatttagagca	12	7	0	1	rs373235110		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:100503735C>T	ENST00000370552.3	-	4	748	c.689G>A	c.(688-690)cGt>cAt	p.R230H	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.R230H	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	230					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATTGGGATTACGACGCAGTGC	0.453																																																	0								ENSG00000172987						121	115	117					10																	100503735		2203	4300	6503	HPSE2	SO:0001583	missense	0			-	HGNC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.689G>A	10.37:g.100503735C>T	ENSP00000359583:p.Arg230His	Somatic	0	56	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP							pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R230H	ENST00000370552.3	37	c.689	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.206756	0.95033	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.29397	1.57;1.57	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.56823	-0.7915	10	0.51188	T	0.08	-5.3324	20.1554	0.98111	0.0:1.0:0.0:0.0	.	230;230	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	H	230	ENSP00000359583:R230H;ENSP00000359577:R230H	ENSP00000359577:R230H	R	-	2	0	HPSE2	100493725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.376000	0.79658	2.838000	0.97847	0.591000	0.81541	CGT	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF		0.453	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	protein_coding	OTTHUMT00000049789.1	C	NM_021828	-		100503735	-1	no_errors	ENST00000370552	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100503735	C	T	100503735	3	4	77	1	0	0	0	0	1	0	0	0	7347	536	19	1	1163	1	HPSE2	10	100503735	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	261224	100503735	35031012	40	4251											
FRG2B	441581	genome.wustl.edu	37	chr10	135439015	135439015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcccctatggtgggcaTcacaggtctcctggatttca	10	12	3	0	rs75470891		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr10:135439015T>C	ENST00000425520.1	-	4	477	c.425A>G	c.(424-426)gAt>gGt	p.D142G	FRG2B_ENST00000443774.1_Missense_Mutation_p.D143G	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	142						nucleus (GO:0005634)		p.D143G(1)|p.D142G(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATGGTGGGCATCACAGGTCTC	0.517																																																	2	Substitution - Missense(2)	prostate(2)						ENSG00000225899						94	106	102					10																	135439015		2200	4298	6498	FRG2B	SO:0001583	missense	0			-	HGNC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.425A>G	10.37:g.135439015T>C	ENSP00000401310:p.Asp142Gly	Somatic	0	79	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q5VSQ1	Missense_Mutation	SNP							NULL	p.D142G	ENST00000425520.1	37	c.425	CCDS44502.1	10	.	.	.	.	.	.	.	.	.	.	.	7.820	0.717602	0.15372	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.46063	0.88;0.88	.	.	.	.	2.387620	0.01707	N	0.027493	T	0.45115	0.1326	N	0.19112	0.55	0.80722	P	0.0	D	0.61697	0.99	D	0.66351	0.943	T	0.44967	-0.9293	7	0.25751	T	0.34	-0.0211	.	.	.	.	142	Q96QU4	FRG2B_HUMAN	G	143;142	ENSP00000408343:D143G;ENSP00000401310:D142G	ENSP00000401310:D142G	D	-	2	0	FRG2B	135289005	0.038000	0.19896	0.258000	0.24420	0.260000	0.26232	0.264000	0.18497	0.103000	0.17682	0.102000	0.15555	GAT	-	NULL		0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	protein_coding	OTTHUMT00000467780.1	T	NM_001080998	rs75470891		135439015	-1	no_errors	ENST00000425520	ensembl	human	known	74_37	missense	SNP	0.272	C	C	135439015	T	C	135439015	3	2	77	1	0	0	0	0	1	0	0	0	6049	1435	50	5	414	5	FRG2B	10	135439015	Missense_Mutation	SNP	T	TCGA-DX-A6YR-01A-33D-A351-09	34935280	135439015	95732	41	4252											
GALNTL4	374378	genome.wustl.edu	37	chr11	11454275	11454275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaaagcgcttcattgAcgaagatgaacacgatgctc	10	10	1	4			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:11454275A>T	ENST00000227756.4	-	3	899	c.488T>A	c.(487-489)gTc>gAc	p.V163D		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	163	Catalytic subdomain A.				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)										CGCTTCATTGACGAAGATGAA	0.542																																																	0								ENSG00000110328						101	85	90					11																	11454275		2201	4294	6495	GALNT18	SO:0001583	missense	0			-	HGNC	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.488T>A	11.37:g.11454275A>T	ENSP00000227756:p.Val163Asp	Somatic	0	39	0		0.625730280766084	31	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	O95903|Q8NDY9	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V163D	ENST00000227756.4	37	c.488	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	A	14.28	2.486934	0.44249	.	.	ENSG00000110328	ENST00000227756	T	0.61510	0.1	5.78	4.65	0.58169	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000002	T	0.67401	0.2889	M	0.83012	2.62	0.80722	D	1	P	0.38250	0.624	P	0.46885	0.53	T	0.67133	-0.5747	10	0.42905	T	0.14	.	10.6771	0.45792	0.9247:0.0:0.0753:0.0	.	163	Q6P9A2	GLTL4_HUMAN	D	163	ENSP00000227756:V163D	ENSP00000227756:V163D	V	-	2	0	GALNTL4	11410851	1.000000	0.71417	0.981000	0.43875	0.085000	0.17905	7.327000	0.79147	1.020000	0.39573	-0.250000	0.11733	GTC	-	pfam_Glyco_trans_2		0.542	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	protein_coding	OTTHUMT00000385848.1	A	NM_198516	-		11454275	-1	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11454275	A	T	11454275	3	4	77	1	0	0	0	0	1	0	0	0	6225	275	10	5	1371	5	GALNTL4	11	11454275	Missense_Mutation	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09		11454275	123552241	42	4253											
MYBPC3	4607	genome.wustl.edu	37	chr11	47372888	47372888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcccgcactgtcagcGtatgccgtgtgccctctgtg	10	16	2	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:47372888G>A	ENST00000545968.1	-	2	248	c.194C>T	c.(193-195)aCg>aTg	p.T65M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.T65M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.T65M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	65					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACTGTCAGCGTATGCCGTGT	0.622																																																	0								ENSG00000134571																																			MYBPC3	SO:0001583	missense	0			-	HGNC	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.194C>T	11.37:g.47372888G>A	ENSP00000442795:p.Thr65Met	Somatic	0	39	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T65M	ENST00000545968.1	37	c.194	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540415	0.45176	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.70986	-0.53;-0.53;-0.53	4.27	3.35	0.38373	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78635	0.4314	L	0.55481	1.735	0.42114	D	0.991398	D	0.76494	0.999	D	0.69307	0.963	T	0.80269	-0.1453	9	0.87932	D	0	.	12.034	0.53415	0.0848:0.0:0.9152:0.0	.	65	Q14896	MYPC3_HUMAN	M	65	ENSP00000442795:T65M;ENSP00000382193:T65M;ENSP00000256993:T65M	ENSP00000256993:T65M	T	-	2	0	MYBPC3	47329464	1.000000	0.71417	0.967000	0.41034	0.014000	0.08584	6.242000	0.72376	1.011000	0.39340	0.467000	0.42956	ACG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2		0.622	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	protein_coding	OTTHUMT00000392271.3	G		-		47372888	-1	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	SNP	0.997	A	A	47372888	G	A	47372888	3	1	77	1	0	0	0	0	1	0	0	0	10015	1145	40	1	3755	1	MYBPC3	11	47372888	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	35918613	47372888	87633628	43	4254											
FOLH1	2346	genome.wustl.edu	37	chr11	49207240	49207240	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgctgggtaacctggTgtgagagggtctcctgcacc	13	11	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:49207240T>G	ENST00000256999.2	-	6	1067	c.807A>C	c.(805-807)acA>acC	p.T269T	FOLH1_ENST00000340334.7_Silent_p.T254T|FOLH1_ENST00000356696.3_Silent_p.T269T|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Silent_p.T254T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	269					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGTAACCTGGTGTGAGAGGGT	0.428																																																	0								ENSG00000086205						55	56	56					11																	49207240		2201	4298	6499	FOLH1	SO:0001819	synonymous_variant	0			-	HGNC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.807A>C	11.37:g.49207240T>G		Somatic	0	91	0		0.625730280766084	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	72	28.71	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP							pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.T269	ENST00000256999.2	37	c.807	CCDS7946.1	11																																																																																			-	NULL		0.428	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	protein_coding	OTTHUMT00000390896.1	T	NM_004476	-		49207240	-1	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	SNP	1.000	G	G	49207240	T	G	49207240	2	3	77	1	0	0	0	0	0	0	0	1	5981	1683	59	5		5	FOLH1	11	49207240	Silent	SNP	T	TCGA-DX-A6YR-01A-33D-A351-09	1834352	49207240	85799276	44	4255											
SF1	7536	genome.wustl.edu	37	chr11	64532898	64532898	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcctgtccaccaggggCgttgctgaggctgtctgcct	12	14	1	1	rs539758407		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:64532898C>T	ENST00000377390.3	-	0	2649				SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Missense_Mutation_p.R560H|SF1_ENST00000227503.9_3'UTR|SF1_ENST00000422298.2_3'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.R627H|SF1_ENST00000377387.1_3'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCACCAGGGGCGTTGCTGAGG	0.567																																																	0								ENSG00000168066						114	124	120					11																	64532898		2201	4297	6498	SF1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.*392G>A	11.37:g.64532898C>T		Somatic	0	55	0		0.625730280766084	222	28.43	89	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R627H	ENST00000377390.3	37	c.1880	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170675	0.38315	.	.	ENSG00000168066	ENST00000377394;ENST00000334944	T;T	0.60920	0.15;0.71	5.36	4.45	0.53987	.	.	.	.	.	T	0.64461	0.2600	.	.	.	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.53006	0.715;0.715	T	0.68138	-0.5488	8	0.87932	D	0	.	10.2964	0.43627	0.0:0.9088:0.0:0.0912	.	560;627	Q15637-6;Q15637-2	.;.	H	560;627	ENSP00000366611:R560H;ENSP00000334414:R627H	ENSP00000334414:R627H	R	-	2	0	SF1	64289474	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.136000	0.31467	1.268000	0.44264	-0.369000	0.07265	CGC	-	NULL		0.567	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	protein_coding	OTTHUMT00000143242.1	C	NM_004630	-		64532898	-1	no_errors	ENST00000334944	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64532898	C	T	64532898	1	4	77	0	1	0	0	0	0	0	0	0	14153	768	27	1		1	SF1	11	64532898	3'UTR	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	15325658	64532898	70473618	45	4256											
MOGAT2	80168	genome.wustl.edu	37	chr11	75440005	75440005	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacagctttggtttaaTaccctaccgccggcccatca	7	15	1	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:75440005T>A	ENST00000198801.5	+	5	891	c.821T>A	c.(820-822)aTa>aAa	p.I274K	MOGAT2_ENST00000526712.1_Missense_Mutation_p.I192K	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	274					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TTTGGTTTAATACCCTACCGC	0.562																																																	0								ENSG00000166391						145	123	130					11																	75440005		2200	4293	6493	MOGAT2	SO:0001583	missense	0			-	HGNC	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.821T>A	11.37:g.75440005T>A	ENSP00000198801:p.Ile274Lys	Somatic	0	26	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP							pfam_DAGAT	p.I274K	ENST00000198801.5	37	c.821	CCDS8240.1	11	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735557	0.69189	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.15372	2.43;2.43	6.03	6.03	0.97812	.	0.797994	0.12254	N	0.485419	T	0.44787	0.1310	M	0.86502	2.82	0.26071	N	0.981229	P	0.46064	0.872	P	0.54590	0.756	T	0.44574	-0.9319	10	0.87932	D	0	-9.8809	15.3932	0.74767	0.0:0.0:0.0:1.0	.	274	Q3SYC2	MOGT2_HUMAN	K	274;192	ENSP00000198801:I274K;ENSP00000436283:I192K	ENSP00000198801:I274K	I	+	2	0	MOGAT2	75117653	0.971000	0.33674	0.033000	0.17914	0.901000	0.52897	7.654000	0.83653	2.308000	0.77769	0.533000	0.62120	ATA	-	pfam_DAGAT		0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT2	protein_coding	OTTHUMT00000383520.1	T	NM_025098	-		75440005	1	no_errors	ENST00000198801	ensembl	human	known	74_37	missense	SNP	0.099	A	A	75440005	T	A	75440005	3	1	77	1	0	0	0	0	1	0	0	0	9697	1406	49	5	839	5	MOGAT2	11	75440005	Missense_Mutation	SNP	T	TCGA-DX-A6YR-01A-33D-A351-09	10907107	75440005	59566511	46	4257											
AASDHPPT	60496	genome.wustl.edu	37	chr11	105967630	105967630	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatacgaaatggtacaaagtCatgatgattccctgagtaac	8	7	1	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:105967630C>T	ENST00000278618.4	+	6	1148	c.926C>T	c.(925-927)tCa>tTa	p.S309L	RP11-677I18.3_ENST00000532422.1_RNA|RP11-677I18.3_ENST00000527594.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	309				TKS -> YKVMMIP (in Ref. 4; AAG49439). {ECO:0000305}.	macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GGTACAAAGTCATGATGATTC	0.353																																																	0								ENSG00000149313						59	51	54					11																	105967630		2200	4298	6498	AASDHPPT	SO:0001583	missense	0			-	HGNC	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.926C>T	11.37:g.105967630C>T	ENSP00000278618:p.Ser309Leu	Somatic	0	25	0		0.625730280766084	15	28.57	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP							pfam_4-PPantetheinyl_Trfase_SF,superfamily_4-PPantetheinyl_Trfase_SF	p.S309L	ENST00000278618.4	37	c.926	CCDS31664.1	11	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026666	0.54683	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.71	3.83	0.44106	.	0.520959	0.20445	N	0.092219	T	0.29321	0.0730	N	0.24115	0.695	0.26347	N	0.977262	B	0.09022	0.002	B	0.04013	0.001	T	0.27606	-1.0069	9	0.87932	D	0	.	10.7831	0.46390	0.0:0.8485:0.0:0.1515	.	309	Q9NRN7	ADPPT_HUMAN	L	309	.	ENSP00000278618:S309L	S	+	2	0	AASDHPPT	105472840	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	1.974000	0.40559	1.419000	0.47118	0.650000	0.86243	TCA	-	NULL		0.353	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDHPPT	protein_coding	OTTHUMT00000388734.1	C	NM_015423	-		105967630	1	no_errors	ENST00000278618	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105967630	C	T	105967630	3	4	77	1	0	0	0	0	1	0	0	0	23	838	29	2	948	2	AASDHPPT	11	105967630	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	30527625	105967630	29038886	47	4258											
SIAE	54414	genome.wustl.edu	37	chr11	124543597	124543597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgagtacaagccccggcGcgaccatgcttgcaaggatc	12	15	0	0	rs144571829	byFrequency	TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr11:124543597G>A	ENST00000263593.3	-	1	180	c.8C>T	c.(7-9)gCg>gTg	p.A3V	SPA17_ENST00000532692.1_5'Flank|SIAE_ENST00000545756.1_5'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_5'Flank			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	3			A -> G (rare variant found in a patient with Crohn disease; probably not involved in disease susceptibility; the mutant enzyme has normal activity and is normally secreted). {ECO:0000269|PubMed:20555325}.		carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		AAGCCCCGGCGCGACCATGCT	0.697																																																	0								ENSG00000110013						24	27	26					11																	124543597		2198	4297	6495	SIAE	SO:0001583	missense	0			-	HGNC	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.8C>T	11.37:g.124543597G>A	ENSP00000263593:p.Ala3Val	Somatic	0	232	0		0.625730280766084	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	100	31.03	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP							pfam_DUF303_acetylest	p.A3V	ENST00000263593.3	37	c.8	CCDS8449.1	11	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663305	0.47572	.	.	ENSG00000110013	ENST00000263593	D	0.84070	-1.8	5.21	2.24	0.28232	.	1.004470	0.08013	N	0.990638	T	0.72930	0.3522	L	0.36672	1.1	0.20926	N	0.999821	B	0.11235	0.004	B	0.06405	0.002	T	0.55692	-0.8101	10	0.29301	T	0.29	-20.1632	4.7094	0.12865	0.1832:0.0:0.6444:0.1724	.	3	Q9HAT2	SIAE_HUMAN	V	3	ENSP00000263593:A3V	ENSP00000263593:A3V	A	-	2	0	SIAE	124048807	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.429000	0.21412	0.260000	0.21731	0.467000	0.42956	GCG	-	NULL		0.697	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	protein_coding	OTTHUMT00000387070.1	G	NM_170601	-		124543597	-1	no_errors	ENST00000263593	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124543597	G	A	124543597	3	1	77	1	0	0	0	0	1	0	0	0	14306	1087	38	1	1603	1	SIAE	11	124543597	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	18575967	124543597	10462919	48	4259											
ITPR2	3709	genome.wustl.edu	37	chr12	26592165	26592165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttcagttgtattgaacaCacggcacttggattctcgag	9	10	2	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:26592165C>A	ENST00000381340.3	-	47	6954	c.6538G>T	c.(6538-6540)Gtg>Ttg	p.V2180L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2180					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTATTGAACACACGGCACTTG	0.383																																																	0								ENSG00000123104						164	151	155					12																	26592165		1867	4114	5981	ITPR2	SO:0001583	missense	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6538G>T	12.37:g.26592165C>A	ENSP00000370744:p.Val2180Leu	Somatic	0	57	0		0.625730280766084	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	O94773	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.V2180L	ENST00000381340.3	37	c.6538	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920640	0.52653	.	.	ENSG00000123104	ENST00000381340	D	0.91740	-2.9	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	M	0.72894	2.215	0.80722	D	1	B	0.15473	0.013	B	0.20184	0.028	T	0.82436	-0.0458	10	0.15066	T	0.55	.	11.0159	0.47689	0.0:0.8586:0.0:0.1414	.	2180	Q14571	ITPR2_HUMAN	L	2180	ENSP00000370744:V2180L	ENSP00000370744:V2180L	V	-	1	0	ITPR2	26483432	1.000000	0.71417	0.966000	0.40874	0.952000	0.60782	4.814000	0.62627	2.873000	0.98535	0.563000	0.77884	GTG	-	NULL		0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	C	NM_002223	-		26592165	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	SNP	0.996	A	A	26592165	C	A	26592165	3	1	77	1	0	0	0	0	1	0	0	0	7923	478	17	3	1611	3	ITPR2	12	26592165	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		26592165	107259730	49	4260											
SCN8A	6334	genome.wustl.edu	37	chr12	52159701	52159701	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccttcctcattgtctttCgagtgttgtgcggggagtgg	13	8	2	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:52159701C>T	ENST00000354534.6	+	16	2969	c.2791C>T	c.(2791-2793)Cga>Tga	p.R931*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.R931*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.R931*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CATTGTCTTTCGAGTGTTGTG	0.493																																																	0								ENSG00000196876						225	228	227					12																	52159701		2202	4300	6502	SCN8A	SO:0001587	stop_gained	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2791C>T	12.37:g.52159701C>T	ENSP00000346534:p.Arg931*	Somatic	0	69	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	53	30.26	B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R931*	ENST00000354534.6	37	c.2791	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.541727	0.98348	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6486	0.91421	0.0:1.0:0.0:0.0	.	.	.	.	X	931;931;931;931;844	.	ENSP00000346534:R931X	R	+	1	2	SCN8A	50445968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.977000	0.40589	2.817000	0.96982	0.563000	0.77884	CGA	-	pfam_Ion_trans_dom		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	C	NM_014191	-		52159701	1	no_errors	ENST00000354534	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	52159701	C	T	52159701	4	4	77	1	0	0	0	0	0	1	0	0	13932	876	31	1	2849	1	SCN8A	12	52159701	Nonsense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	25567536	52159701	81692194	50	4261											
ITGB7	3695	genome.wustl.edu	37	chr12	53585695	53585695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcgactgtattcccggCggtcatagatttccaccgag	10	12	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:53585695C>T	ENST00000267082.5	-	15	2495	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	ITGB7_ENST00000422257.3_Missense_Mutation_p.R755H|ITGB7_ENST00000550743.2_Missense_Mutation_p.R607H|ITGB7_ENST00000338737.4_Missense_Mutation_p.R607H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	755					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTATTCCCGGCGGTCATAGAT	0.597																																																	0								ENSG00000139626						58	59	59					12																	53585695		2203	4300	6503	ITGB7	SO:0001583	missense	0			-	HGNC		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2264G>A	12.37:g.53585695C>T	ENSP00000267082:p.Arg755His	Somatic	0	91	0		0.625730280766084	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	20.00	Q9UCP7|Q9UCS7	Missense_Mutation	SNP							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R755H	ENST00000267082.5	37	c.2264	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722224	0.89298	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.91124	-2.79;-2.79;-2.79	4.86	3.9	0.45041	Integrin beta subunit, cytoplasmic (2);	0.000000	0.43110	D	0.000619	D	0.94889	0.8348	M	0.83603	2.65	0.27666	N	0.946922	D	0.89917	1.0	D	0.77004	0.989	D	0.89123	0.3504	10	0.72032	D	0.01	.	13.1591	0.59535	0.1603:0.8397:0.0:0.0	.	755	P26010	ITB7_HUMAN	H	755;755;607	ENSP00000408741:R755H;ENSP00000267082:R755H;ENSP00000345501:R607H	ENSP00000267082:R755H	R	-	2	0	ITGB7	51871962	0.998000	0.40836	0.977000	0.42913	0.984000	0.73092	3.640000	0.54350	2.431000	0.82371	0.655000	0.94253	CGC	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom,prints_Integrin_bsu		0.597	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	protein_coding	OTTHUMT00000405821.2	C		-		53585695	-1	no_errors	ENST00000267082	ensembl	human	known	74_37	missense	SNP	0.996	T	T	53585695	C	T	53585695	3	4	77	1	0	0	0	0	1	0	0	0	7902	768	27	1	140	1	ITGB7	12	53585695	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	1425994	53585695	80266200	51	4262											
GNPTAB	79158	genome.wustl.edu	37	chr12	102142886	102142886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atataaaacttacctgctcaGcaaaaaatgagaatatagta	5	6	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:102142886G>A	ENST00000299314.7	-	20	3948	c.3686C>T	c.(3685-3687)gCt>gTt	p.A1229V		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1229					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						TACCTGCTCAGCAAAAAATGA	0.318																																																	0								ENSG00000111670						99	100	100					12																	102142886		2203	4300	6503	GNPTAB	SO:0001583	missense	0			-	HGNC	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.3686C>T	12.37:g.102142886G>A	ENSP00000299314:p.Ala1229Val	Somatic	0	34	0		0.625730280766084	26	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP							pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.A1229V	ENST00000299314.7	37	c.3686	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596982	0.87055	.	.	ENSG00000111670	ENST00000299314	D	0.96459	-4.02	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94613	0.7806	10	0.17369	T	0.5	-20.0654	20.0349	0.97554	0.0:0.0:1.0:0.0	.	1229	Q3T906	GNPTA_HUMAN	V	1229	ENSP00000299314:A1229V	ENSP00000299314:A1229V	A	-	2	0	GNPTAB	100667017	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.444000	0.97578	2.744000	0.94065	0.650000	0.86243	GCT	-	NULL		0.318	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	protein_coding	OTTHUMT00000409182.1	G		-		102142886	-1	no_errors	ENST00000299314	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102142886	G	A	102142886	3	1	77	1	0	0	0	0	1	0	0	0	6547	971	34	2	92	2	GNPTAB	12	102142886	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	48557191	102142886	31709009	52	4263											
STAB2	55576	genome.wustl.edu	37	chr12	103981330	103981330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccccagctgaaaccacaGggcaggtaagaggagactta	12	11	0	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:103981330G>T	ENST00000388887.2	+	1	280	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAAACCACAGGGCAGGTAAG	0.363																																																	0								ENSG00000136011						105	99	101					12																	103981330		2203	4300	6503	STAB2	SO:0001583	missense	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.76G>T	12.37:g.103981330G>T	ENSP00000373539:p.Gly26Trp	Somatic	0	44	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00		Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G26W	ENST00000388887.2	37	c.76	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066556	0.55539	.	.	ENSG00000136011	ENST00000388887	T	0.42900	0.96	5.77	2.76	0.32466	.	1.251780	0.05734	N	0.600164	T	0.41604	0.1166	L	0.47190	1.495	0.09310	N	1	P	0.52463	0.953	P	0.46975	0.533	T	0.21008	-1.0258	10	0.37606	T	0.19	.	5.6284	0.17495	0.1663:0.3123:0.5214:0.0	.	26	Q8WWQ8	STAB2_HUMAN	W	26	ENSP00000373539:G26W	ENSP00000373539:G26W	G	+	1	0	STAB2	102505460	0.002000	0.14202	0.001000	0.08648	0.476000	0.33039	0.971000	0.29396	0.749000	0.32854	0.655000	0.94253	GGG	-	NULL		0.363	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	G		-		103981330	1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	SNP	0.000	T	T	103981330	G	T	103981330	3	4	77	1	0	0	0	0	1	0	0	0	15245	1000	35	3	78	3	STAB2	12	103981330	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	1838444	103981330	29870565	53	4264											
LHX5	64211	genome.wustl.edu	37	chr12	113906052	113906052	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgcttggccttgatggtGgtgcgggggccgcgccgctt	18	11	0	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:113906052G>T	ENST00000261731.3	-	3	1128	c.555C>A	c.(553-555)acC>acA	p.T185T		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	185					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CCTTGATGGTGGTGCGGGGGC	0.677																																																	0								ENSG00000089116						103	89	94					12																	113906052		2203	4300	6503	LHX5	SO:0001819	synonymous_variant	0			-	HGNC	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.555C>A	12.37:g.113906052G>T		Somatic	0	41	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q32MA4	Silent	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.T185	ENST00000261731.3	37	c.555	CCDS9171.1	12																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.677	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX5	protein_coding	OTTHUMT00000404788.3	G	NM_022363	-		113906052	-1	no_errors	ENST00000261731	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113906052	G	T	113906052	2	4	77	1	0	0	0	0	0	0	0	1	8776	1335	47	3		3	LHX5	12	113906052	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	9924722	113906052	19945843	54	4265											
GPR109A	338442	genome.wustl.edu	37	chr12	123187043	123187043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacacttcacaattctgcGtgcccgaagtgtgcaggagc	12	11	2	0	rs201581105		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr12:123187043G>A	ENST00000328880.5	-	1	847	c.788C>T	c.(787-789)aCg>aTg	p.T263M	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	263					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	ACAATTCTGCGTGCCCGAAGT	0.542																																																	0								ENSG00000182782	G	MET/THR	0,4406		0,0,2203	97	81	87		788	2.4	0	12		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	HCAR2	NM_177551.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	263/364	123187043	1,13005	2203	4300	6503	HCAR2	SO:0001583	missense	0			-	HGNC	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.788C>T	12.37:g.123187043G>A	ENSP00000375066:p.Thr263Met	Somatic	0	59	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	A0PJL5|A7LGG3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T263M	ENST00000328880.5	37	c.788	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	1.042	-0.678588	0.03378	0.0	1.16E-4	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.72835	-0.69	4.41	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.606355	0.15248	N	0.272514	T	0.59059	0.2166	L	0.46157	1.445	0.09310	N	1	B	0.25235	0.121	B	0.29942	0.109	T	0.49293	-0.8955	10	0.34782	T	0.22	-4.49	3.4892	0.07632	0.2622:0.2125:0.5253:0.0	.	263	Q8TDS4	HCAR2_HUMAN	M	263	ENSP00000375066:T263M	ENSP00000375066:T263M	T	-	2	0	HCAR2	121752996	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.607000	0.05648	0.695000	0.31675	0.557000	0.71058	ACG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	protein_coding	OTTHUMT00000370202.1	G	NM_177551	-		123187043	-1	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	SNP	0.001	A	A	123187043	G	A	123187043	3	1	77	1	0	0	0	0	1	0	0	0	6627	1145	40	1	307	1	GPR109A	12	123187043	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	9280991	123187043	10664852	55	4266											
TFDP1	7027	genome.wustl.edu	37	chr13	114294576	114294576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacgagaatgacgaggaCgactgacgtcctccccactt	9	13	1	3			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr13:114294576C>T	ENST00000375370.5	+	12	1439	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	TFDP1_ENST00000544902.1_Silent_p.D380D|TFDP1_ENST00000538138.1_Silent_p.D310D	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	409	Asp/Glu-rich (acidic; NCB domain).				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			atgacgaggacgactgacgTC	0.512										TSP Lung(29;0.18)																																							0								ENSG00000198176						38	33	35					13																	114294576		2203	4300	6503	TFDP1	SO:0001819	synonymous_variant	0			-	HGNC	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1227C>T	13.37:g.114294576C>T		Somatic	0	65	0		0.625730280766084	179	31.42	82	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	69	43.44	B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP							pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.D409	ENST00000375370.5	37	c.1227	CCDS9538.1	13																																																																																			-	NULL		0.512	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	protein_coding	OTTHUMT00000045918.3	C	NM_007111	-		114294576	1	no_errors	ENST00000375370	ensembl	human	known	74_37	silent	SNP	0.006	T	T	114294576	C	T	114294576	2	4	77	1	0	0	0	0	0	0	0	1	15804	535	19	1		1	TFDP1	13	114294576	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		114294576	875302	56	4267											
C14orf115	55237	genome.wustl.edu	37	chr14	74823735	74823735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtgcaagggggagggCagcctgctgttcgaggcggc	20	9	0	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr14:74823735C>A	ENST00000256362.4	+	2	490	c.249C>A	c.(247-249)ggC>ggA	p.G83G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	83					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGGGGAGGGCAGCCTGCTGT	0.667																																																	0								ENSG00000133980						53	48	49					14																	74823735		2203	4300	6503	VRTN	SO:0001819	synonymous_variant	0			-	HGNC	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.249C>A	14.37:g.74823735C>A		Somatic	0	15	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	34.62	Q9NVC7	Silent	SNP							pfam_Transposase_8	p.G83	ENST00000256362.4	37	c.249	CCDS9830.1	14																																																																																			-	NULL		0.667	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	protein_coding	OTTHUMT00000412339.1	C	NM_018228	-		74823735	1	no_errors	ENST00000256362	ensembl	human	known	74_37	silent	SNP	0.967	A	A	74823735	C	A	74823735	2	1	77	1	0	0	0	0	0	0	0	1	1742	697	25	3		3	C14orf115	14	74823735	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		74823735	32525805	57	4268											
PTPN21	11099	genome.wustl.edu	37	chr14	88946616	88946616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccattacggatccgacCgttgaggtcaatctgggctc	11	12	2	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr14:88946616C>T	ENST00000556564.1	-	13	1443	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S	PTPN21_ENST00000328736.3_Missense_Mutation_p.G387S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	387					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGATCCGACCGTTGAGGTCA	0.488																																																	0								ENSG00000070778						89	75	80					14																	88946616		2203	4300	6503	PTPN21	SO:0001583	missense	0			-	HGNC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1159G>A	14.37:g.88946616C>T	ENSP00000452414:p.Gly387Ser	Somatic	0	29	0		0.625730280766084	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18		Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.G387S	ENST00000556564.1	37	c.1159	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237374	0.79800	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.79033	-1.23;-1.23	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	M	0.78637	2.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86136	0.1578	10	0.31617	T	0.26	.	19.3874	0.94563	0.0:1.0:0.0:0.0	.	387	Q16825	PTN21_HUMAN	S	387	ENSP00000330276:G387S;ENSP00000452414:G387S	ENSP00000330276:G387S	G	-	1	0	PTPN21	88016369	1.000000	0.71417	0.710000	0.30468	0.487000	0.33371	6.066000	0.71185	2.590000	0.87494	0.561000	0.74099	GGT	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.488	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	protein_coding	OTTHUMT00000410303.1	C		-		88946616	-1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88946616	C	T	88946616	3	4	77	1	0	0	0	0	1	0	0	0	12794	652	23	1	2393	1	PTPN21	14	88946616	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	14122881	88946616	18402924	58	4269											
CHRNA7	1139	genome.wustl.edu	37	chr15	32460274	32460274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagatgagcgccgtggCgccgccgcccgccagcaacg	16	15	0	2	rs374714000		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr15:32460274C>T	ENST00000306901.3	+	10	1221	c.1124C>T	c.(1123-1125)gCg>gTg	p.A375V	CHRNA7_ENST00000455693.2_Missense_Mutation_p.A194V|CHRNA7_ENST00000454250.3_Missense_Mutation_p.A404V	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	375				A -> G (in Ref. 1; CAA49778). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	AGCGCCGTGGCGCCGCCGCCC	0.701																																					Esophageal Squamous(193;529 2900 40232 43193)												0								ENSG00000175344	C	VAL/ALA,VAL/ALA	0,4390		0,0,2195	33	42	39		1124,1211	2.9	0	15		39	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CHRNA7	NM_000746.4,NM_001190455.1	64,64	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	375/503,404/532	32460274	1,12981	2195	4296	6491	CHRNA7	SO:0001583	missense	0			-	HGNC	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1124C>T	15.37:g.32460274C>T	ENSP00000303727:p.Ala375Val	Somatic	0	108	0		0.625730280766084	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	103	15.57	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A404V	ENST00000306901.3	37	c.1211	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	c	7.505	0.653377	0.14580	0.0	1.16E-4	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.23348	1.91;1.91;1.91	3.84	2.87	0.33458	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.080770	0.07165	N	0.851430	T	0.15435	0.0372	N	0.16266	0.395	0.09310	N	1	B;B	0.27316	0.0;0.175	B;B	0.29862	0.002;0.108	T	0.34700	-0.9818	10	0.22109	T	0.4	.	4.5623	0.12166	0.0:0.6413:0.2256:0.1331	.	404;375	B4DFS0;P36544	.;ACHA7_HUMAN	V	285;404;375;194	ENSP00000407546:A404V;ENSP00000303727:A375V;ENSP00000405989:A194V	ENSP00000303727:A375V	A	+	2	0	CHRNA7	30247566	0.948000	0.32251	0.004000	0.12327	0.198000	0.23893	2.960000	0.49161	1.115000	0.41800	0.650000	0.86243	GCG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.701	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	protein_coding	OTTHUMT00000251410.2	C		-		32460274	1	no_errors	ENST00000454250	ensembl	human	known	74_37	missense	SNP	0.031	T	T	32460274	C	T	32460274	3	4	77	1	0	0	0	0	1	0	0	0	3390	768	27	1	1162	1	CHRNA7	15	32460274	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		32460274	70071118	59	4270											
RPS27L	51065	genome.wustl.edu	37	chr15	63447932	63447933	+	Splice_Site	INS	-	-	A													tggtgatcttgtagcaacctINSaaaaaaaaaaaaaggcaatg					rs368882344|rs547223571		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr15:63447932_63447933insA	ENST00000455271.1	-	3	604		c.e3-2		RPS27L_ENST00000559763.1_5'Flank|RPS27L_ENST00000439025.1_Splice_Site|RPS27L_ENST00000411926.1_Splice_Site|RPS27L_ENST00000462430.1_Splice_Site|RPS27L_ENST00000330964.5_Splice_Site					ribosomal protein S27-like											large_intestine(1)	1						TGTAGCAACCTAAAAAAAAAAA	0.396																																																	0								ENSG00000185088																																			RPS27L	SO:0001630	splice_region_variant	0				HGNC	BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"S ribosomal proteins"	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000455271.1:c.20-2->T	15.37:g.63447943_63447943dupA		Somatic	0	32	0		0.625730280766084	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63		Splice_Site	INS							-	e3-2	ENST00000455271.1	37	c.116-3_116-2		15																																																																																			-	-		0.396	RPS27L-003	PUTATIVE	basic|exp_conf	protein_coding	RPS27L	protein_coding	OTTHUMT00000339349.2	-	NM_015920		Intron	63447933	-1	no_errors	ENST00000330964	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.554	A	A	63447933	-	A	63447932	8	5	77	1	0	1	1	0	0	0	1	0	13648	1536	53	0	148	0	RPS27L	15	63447932	Splice_Site	INS	-	TCGA-DX-A6YR-01A-33D-A351-09	30987658	63447932	39083460	60	4271											
VASN	114990	genome.wustl.edu	37	chr16	4431389	4431391	+	In_Frame_Del	DEL	CTG	CTG	-													ccccgctgcgcctgccccgcCtgctgctgctggacctcagc							TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr16:4431389_4431391delCTG	ENST00000304735.3	+	2	666_668	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	174					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704																																																	0								ENSG00000168140		,,,,	13,3925		1,11,1957					,,,,	4.8	1			8	53,7679		3,47,3816	no	coding,intron,intron,intron,intron	CORO7,VASN,CORO7-PAM16	NM_138440.2,NM_024535.4,NM_001201479.1,NM_001201473.1,NM_001201472.1	,,,,	4,58,5773	A1A1,A1R,RR		0.6855,0.3301,0.5656	,,,,	,,,,		66,11604				VASN	SO:0001651	inframe_deletion	0				HGNC	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.511_513delCTG	16.37:g.4431398_4431400delCTG	ENSP00000306864:p.Leu174del	Somatic	0	24	0		0.625730280766084	227	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q6UXL4|Q6UXL5|Q96CX1	In_Frame_Del	DEL							pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L174in_frame_del	ENST00000304735.3	37	c.511_513	CCDS10514.1	16																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.704	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	protein_coding	OTTHUMT00000251632.1	CTG	NM_138440			4431391	1	no_errors	ENST00000304735	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	4431391	CTG	-	4431389	7	5	77	1	0	1	0	1	0	0	0	0	17134	680	24	0	513	0	VASN	16	4431389	In_Frame_Del	DEL	CTG	TCGA-DX-A6YR-01A-33D-A351-09		4431389	85923364	61	4272											
KCNG4	93107	genome.wustl.edu	37	chr16	84270517	84270517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggagtgcgaggcggggCggcgggtctccctctgctgc	20	12	2	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr16:84270517C>T	ENST00000308251.4	-	2	643	c.575G>A	c.(574-576)cGc>cAc	p.R192H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R192H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	192					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGAGGCGGGGCGGCGGGTCTC	0.682																																																	0								ENSG00000168418						24	24	24					16																	84270517		2199	4296	6495	KCNG4	SO:0001583	missense	0			-	HGNC	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.575G>A	16.37:g.84270517C>T	ENSP00000312129:p.Arg192His	Somatic	0	89	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	41.86	Q96H24	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R192H	ENST00000308251.4	37	c.575	CCDS10945.1	16	.	.	.	.	.	.	.	.	.	.	C	4.549	0.101955	0.08731	.	.	ENSG00000168418	ENST00000308251	D	0.96651	-4.08	5.11	1.96	0.26148	.	1.220070	0.05980	N	0.644022	D	0.91492	0.7314	N	0.25647	0.755	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.09377	0.004;0.003	T	0.79754	-0.1670	10	0.13108	T	0.6	.	7.577	0.27942	0.2933:0.6275:0.0:0.0792	.	192;192	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	192	ENSP00000312129:R192H	ENSP00000312129:R192H	R	-	2	0	KCNG4	82828018	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.329000	0.19698	0.134000	0.18681	-0.332000	0.08345	CGC	-	NULL		0.682	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	protein_coding	OTTHUMT00000269079.2	C	NM_172347	-		84270517	-1	no_errors	ENST00000308251	ensembl	human	known	74_37	missense	SNP	0.000	T	T	84270517	C	T	84270517	3	4	77	1	0	0	0	0	1	0	0	0	8032	768	27	1	990	1	KCNG4	16	84270517	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	79839128	84270517	6084236	62	4273											
RSAD1	55316	genome.wustl.edu	37	chr17	48562112	48562112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggttttccaggggtcttCggtgttcctgggagggtctg	16	8	2	0	rs375677855		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr17:48562112C>T	ENST00000258955.2	+	9	1304	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	407					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGGGTCTTCGGTGTTCCTG	0.607													C|||	1	0.000199681	0	0	5008	,	,		17114	0		0	False		,,,				2504	0.001																0								ENSG00000136444	C	TRP/ARG	0,4406		0,0,2203	80	69	73		1219	4.7	1	17		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	RSAD1	NM_018346.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	407/443	48562112	1,13005	2203	4300	6503	RSAD1	SO:0001583	missense	0			-	HGNC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1219C>T	17.37:g.48562112C>T	ENSP00000258955:p.Arg407Trp	Somatic	0	79	0		0.625730280766084	40	31.03	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	51	32.89	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP							pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.R407W	ENST00000258955.2	37	c.1219	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434114	0.83776	0.0	1.16E-4	ENSG00000136444	ENST00000258955	T	0.55588	0.51	5.76	4.74	0.60224	HemN, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.08118	0	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.62177	-0.6909	10	0.87932	D	0	-38.2165	14.0583	0.64784	0.2485:0.7515:0.0:0.0	.	407	Q9HA92	RSAD1_HUMAN	W	407	ENSP00000258955:R407W	ENSP00000258955:R407W	R	+	1	2	RSAD1	45917111	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	1.702000	0.37836	2.709000	0.92574	0.655000	0.94253	CGG	-	pfam_HemN_C_dom		0.607	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	C	NM_018346	-		48562112	1	no_errors	ENST00000258955	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48562112	C	T	48562112	3	4	77	1	0	0	0	0	1	0	0	0	13702	875	31	1	1253	1	RSAD1	17	48562112	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		48562112	32633098	63	4274											
MYO5B	4645	genome.wustl.edu	37	chr18	47431168	47431168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctggagcaccacagcCgctctgatcctccgcaggtg	11	14	2	1	rs372848572		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr18:47431168C>T	ENST00000285039.7	-	20	2744	c.2445G>A	c.(2443-2445)gcG>gcA	p.A815A	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	815	Arg-rich.|IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)	p.A815A(1)		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)		GCACCACAGCCGCTCTGATCC	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000167306	C		0,4006		0,0,2003	35	40	39		2445	-10.7	0	18		39	1,8321		0,1,4160	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6163	TT,TC,CC		0.012,0.0,0.0081		815/1849	47431168	1,12327	2003	4161	6164	MYO5B	SO:0001819	synonymous_variant	0			-	HGNC	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.2445G>A	18.37:g.47431168C>T		Somatic	0	110	0		0.625730280766084	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	67	21.18	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A815	ENST00000285039.7	37	c.2445	CCDS42436.1	18																																																																																			-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.622	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	C		-		47431168	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	silent	SNP	0.001	T	T	47431168	C	T	47431168	2	4	77	1	0	0	0	0	0	0	0	1	10081	639	23	1		1	MYO5B	18	47431168	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		47431168	30646080	64	4275											
HCN2	610	genome.wustl.edu	37	chr19	603785	603785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctgcgcacgtggttcGtggtggacttcgtgtcctcc	13	11	1	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:603785G>A	ENST00000251287.2	+	2	927	c.874G>A	c.(874-876)Gtg>Atg	p.V292M		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	292					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CACGTGGTTCGTGGTGGACTT	0.562																																					Melanoma(145;1175 2427 8056 36306)												0								ENSG00000099822						181	140	154					19																	603785		2198	4298	6496	HCN2	SO:0001583	missense	0			-	HGNC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.874G>A	19.37:g.603785G>A	ENSP00000251287:p.Val292Met	Somatic	0	71	0		0.625730280766084	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	56	17.65	O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.V292M	ENST00000251287.2	37	c.874	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	15.26	2.779739	0.49891	.	.	ENSG00000099822	ENST00000251287	D	0.98550	-4.99	3.05	3.05	0.35203	Ion transport (1);	.	.	.	.	D	0.97445	0.9164	M	0.87827	2.91	0.42380	D	0.992486	P	0.48911	0.917	B	0.40477	0.33	D	0.97485	1.0050	9	0.48119	T	0.1	.	13.6304	0.62191	0.0:0.0:1.0:0.0	.	292	Q9UL51	HCN2_HUMAN	M	292	ENSP00000251287:V292M	ENSP00000251287:V292M	V	+	1	0	HCN2	554785	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.411000	0.59781	1.749000	0.51849	0.299000	0.19835	GTG	-	pfam_Ion_trans_dom		0.562	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	protein_coding	OTTHUMT00000452100.1	G	NM_001194	-		603785	1	no_errors	ENST00000251287	ensembl	human	known	74_37	missense	SNP	1.000	A	A	603785	G	A	603785	3	1	77	1	0	0	0	0	1	0	0	0	6999	1145	40	1	880	1	HCN2	19	603785	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		603785	58525198	65	4276											
MATK	4145	genome.wustl.edu	37	chr19	3778349	3778349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcatgaggacgtgcacGgggcctggacagccctcggg	16	13	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:3778349G>A	ENST00000310132.6	-	14	1754	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	MATK_ENST00000395045.2_Silent_p.P453P|MATK_ENST00000585778.1_Silent_p.P451P|MATK_ENST00000395040.2_Silent_p.P411P	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	452	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACGTGCACGGGGCCTGGAC	0.692																																																	0								ENSG00000007264						28	33	31					19																	3778349		2203	4294	6497	MATK	SO:0001819	synonymous_variant	0			-	HGNC	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1356C>T	19.37:g.3778349G>A		Somatic	0	79	0		0.625730280766084	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	11	85.14	B3KNZ9|Q9NST8	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P453	ENST00000310132.6	37	c.1359	CCDS12114.1	19																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	protein_coding	OTTHUMT00000453639.1	G	NM_139355	-		3778349	-1	no_errors	ENST00000395045	ensembl	human	known	74_37	silent	SNP	0.000	A	A	3778349	G	A	3778349	2	1	77	1	0	0	0	0	0	0	0	1	9334	1103	39	1		1	MATK	19	3778349	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	3174564	3778349	55350634	66	4277											
UHRF1	29128	genome.wustl.edu	37	chr19	4960773	4960773	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccagcctctgcagaccGtcctcaaccagctcttcccc	6	19	3	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:4960773G>A	ENST00000592666.1	+	0	2916							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTGCAGACCGTCCTCAACCA	0.612																																																	0								ENSG00000034063						11	13	13					19																	4960773		1849	4048	5897	UHRF1			0			-	HGNC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960773G>A		Somatic	0	33	0		0.625730280766084	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP							-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	G	1.015	-0.686587	0.03328	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.43	-2.58	0.06228	Zinc finger, RING/FYVE/PHD-type (1);	0.437398	0.22834	N	0.055076	T	0.14227	0.0344	.	.	.	0.23834	N	0.996716	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.001	T	0.41610	-0.9499	7	0.02654	T	1	-37.4898	6.9817	0.24706	0.5298:0.2106:0.2597:0.0	.	794;781	Q2HIX7;Q96T88	.;UHRF1_HUMAN	I	780;395;780;780;793	.	ENSP00000262952:V780I	V	+	1	0	UHRF1	4911773	0.000000	0.05858	0.024000	0.17045	0.537000	0.34900	-0.174000	0.09839	-0.195000	0.10382	-0.367000	0.07326	GTC	-	-		0.612	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	processed_transcript	OTTHUMT00000450444.1	G	NM_001048201	-		4960773	1	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	SNP	0.027	A	A	4960773	G	A	4960773	1	1	77	0	1	0	0	0	0	0	0	0	16974	1145	40	1		1	UHRF1	19	4960773	RNA	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	1182424	4960773	54168210	67	4278											
LPHN1	22859	genome.wustl.edu	37	chr19	14288464	14288464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattctccaccatgatgaCgtcgctgccggggcaccgca	12	15	1	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:14288464C>T	ENST00000340736.6	-	3	460	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	LPHN1_ENST00000361434.3_Missense_Mutation_p.V55I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	55	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCATGATGACGTCGCTGCCG	0.657																																																	0								ENSG00000072071						118	94	102					19																	14288464		2203	4300	6503	LPHN1	SO:0001583	missense	0			-	HGNC	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.163G>A	19.37:g.14288464C>T	ENSP00000340688:p.Val55Ile	Somatic	0	42	0		0.625730280766084	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP							pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.V55I	ENST00000340736.6	37	c.163	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.449484	0.96205	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.16597	2.33;2.33	5.15	5.15	0.70609	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.64402	D	0.000001	T	0.44244	0.1284	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	T	0.40270	-0.9572	10	0.56958	D	0.05	.	16.11	0.81255	0.0:1.0:0.0:0.0	.	55;55	O94910-2;O94910	.;LPHN1_HUMAN	I	55	ENSP00000340688:V55I;ENSP00000355328:V55I	ENSP00000340688:V55I	V	-	1	0	LPHN1	14149464	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.607000	0.82883	2.412000	0.81896	0.591000	0.81541	GTC	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.657	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	protein_coding	OTTHUMT00000459696.1	C	NM_014921	-		14288464	-1	no_errors	ENST00000340736	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14288464	C	T	14288464	3	4	77	1	0	0	0	0	1	0	0	0	8917	536	19	1	4349	1	LPHN1	19	14288464	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	9327691	14288464	44840519	68	4279											
ILVBL	10994	genome.wustl.edu	37	chr19	15234361	15234361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggccacgttctctccGccatgccggacgcttgcctt	10	17	1	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:15234361G>A	ENST00000263383.3	-	3	301	c.162C>T	c.(160-162)ggC>ggT	p.G54G	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	54						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.G54G(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CGTTCTCTCCGCCATGCCGGA	0.627																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000105135						74	64	67					19																	15234361		2203	4300	6503	ILVBL	SO:0001819	synonymous_variant	0			-	HGNC	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.162C>T	19.37:g.15234361G>A		Somatic	0	36	0		0.625730280766084	58	23.68	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP							pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.G54	ENST00000263383.3	37	c.162	CCDS12325.1	19																																																																																			-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	protein_coding	OTTHUMT00000385439.1	G	NM_006844	-		15234361	-1	no_errors	ENST00000263383	ensembl	human	known	74_37	silent	SNP	0.470	A	A	15234361	G	A	15234361	2	1	77	1	0	0	0	0	0	0	0	1	7717	1074	38	1		1	ILVBL	19	15234361	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	945897	15234361	43894622	69	4280											
KLF2	10365	genome.wustl.edu	37	chr19	16437824	16437824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatcacctggcgctgcaCatgaaacggcacatgtagcc	10	14	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:16437824C>T	ENST00000248071.5	+	3	1157	c.1050C>T	c.(1048-1050)caC>caT	p.H350H	KLF2_ENST00000592003.1_Missense_Mutation_p.T78I|CTD-2562J15.6_ENST00000588799.1_RNA	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	350					cell morphogenesis (GO:0000902)|cellular response to cycloheximide (GO:0071409)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|cellular response to tumor necrosis factor (GO:0071356)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						TGGCGCTGCACATGAAACGGC	0.697																																																	0								ENSG00000127528						33	24	27					19																	16437824		2202	4299	6501	KLF2	SO:0001819	synonymous_variant	0			-	HGNC	AF123344	CCDS12343.1	19p13.11	2013-10-15	2013-10-15		ENSG00000127528	ENSG00000127528		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6347	protein-coding gene	gene with protein product		602016	"Kruppel-like factor 2 (lung)"			10217429, 10458913	Standard	NM_016270		Approved	LKLF	uc002ndw.3	Q9Y5W3	OTTHUMG00000182330	ENST00000248071.5:c.1050C>T	19.37:g.16437824C>T		Somatic	0	55	0		0.625730280766084	198	14.89	35	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	74	17.78	Q6IPC4|Q9UJS5|Q9UKR6	Missense_Mutation	SNP							NULL	p.T78I	ENST00000248071.5	37	c.233	CCDS12343.1	19																																																																																			-	NULL		0.697	KLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF2	protein_coding	OTTHUMT00000460562.1	C		-		16437824	1	no_errors	ENST00000592003	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	16437824	C	T	16437824	2	4	77	1	0	0	0	0	0	0	0	1	8348	477	17	2		2	KLF2	19	16437824	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	1203463	16437824	42691159	70	4281											
KIAA0355	9710	genome.wustl.edu	37	chr19	34838875	34838875	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtcgccggccaggcaAcccccggggcaactggccgc	15	18	0	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:34838875A>T	ENST00000299505.6	+	11	3488	c.2615A>T	c.(2614-2616)aAc>aTc	p.N872I	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	872										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGGCCAGGCAACCCCCGGGGC	0.637																																																	0								ENSG00000166398						40	41	41					19																	34838875		2203	4300	6503	KIAA0355	SO:0001583	missense	0			-	HGNC		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2615A>T	19.37:g.34838875A>T	ENSP00000299505:p.Asn872Ile	Somatic	0	39	0		0.625730280766084	25	7.14	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.19	Q2M3W4	Missense_Mutation	SNP							NULL	p.N872I	ENST00000299505.6	37	c.2615	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	A	27.3	4.818388	0.90790	.	.	ENSG00000166398	ENST00000299505	.	.	.	6.06	6.06	0.98353	.	0.149689	0.64402	D	0.000016	T	0.33089	0.0851	L	0.27053	0.805	0.53688	D	0.999973	P	0.42203	0.773	B	0.37304	0.246	T	0.28364	-1.0046	9	0.87932	D	0	-40.8057	8.6722	0.34156	0.8022:0.1306:0.0672:0.0	.	872	O15063	K0355_HUMAN	I	872	.	ENSP00000299505:N872I	N	+	2	0	KIAA0355	39530715	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.700000	0.61803	2.324000	0.78689	0.533000	0.62120	AAC	-	NULL		0.637	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	protein_coding	OTTHUMT00000451678.4	A	NM_014686	-		34838875	1	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34838875	A	T	34838875	3	4	77	1	0	0	0	0	1	0	0	0	8172	43	2	5	2653	5	KIAA0355	19	34838875	Missense_Mutation	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09	18401051	34838875	24290108	71	4282											
SHANK1	50944	genome.wustl.edu	37	chr19	51201120	51201120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcttgctctcctgagagCgattcgccacttcttccagg	9	14	2	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:51201120C>T	ENST00000293441.1	-	12	1859	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	SHANK1_ENST00000359082.3_Missense_Mutation_p.R614H|SHANK1_ENST00000391814.1_Missense_Mutation_p.R614H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	614					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)			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)		CTCCTGAGAGCGATTCGCCAC	0.572																																																	0								ENSG00000161681						84	73	77					19																	51201120		2203	4300	6503	SHANK1	SO:0001583	missense	0			-	HGNC	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.1841G>A	19.37:g.51201120C>T	ENSP00000293441:p.Arg614His	Somatic	0	78	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	78	24.27	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R614H	ENST00000293441.1	37	c.1841	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352798	0.24512	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.13901	2.55;2.55;2.55	3.27	3.27	0.37495	Src homology-3 domain (1);	0.351137	0.21186	U	0.078724	T	0.19046	0.0457	L	0.42245	1.32	0.09310	N	0.999998	D	0.71674	0.998	P	0.57009	0.811	T	0.03922	-1.0992	10	0.87932	D	0	-24.5534	5.2959	0.15752	0.0:0.7553:0.0:0.2447	.	614	Q9Y566	SHAN1_HUMAN	H	614	ENSP00000293441:R614H;ENSP00000351984:R614H;ENSP00000375690:R614H	ENSP00000293441:R614H	R	-	2	0	SHANK1	55892932	0.708000	0.27876	0.998000	0.56505	0.696000	0.40369	1.102000	0.31050	1.836000	0.53414	0.457000	0.33378	CGC	-	superfamily_SH3_domain		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	C	NM_016148	-		51201120	-1	no_errors	ENST00000391814	ensembl	human	known	74_37	missense	SNP	0.109	T	T	51201120	C	T	51201120	3	4	77	1	0	0	0	0	1	0	0	0	14272	768	27	1	4692	1	SHANK1	19	51201120	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	16362245	51201120	7927863	72	4283											
KLK15	55554	genome.wustl.edu	37	chr19	51330315	51330315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgttgcggtggctgcgCgcttcgtagcgcgggtgtgg	19	9	0	0	rs559995592		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:51330315C>T	ENST00000598239.1	-	3	330	c.300G>A	c.(298-300)gcG>gcA	p.A100A	KLK15_ENST00000326856.4_Silent_p.A99A|KLK15_ENST00000416184.1_Silent_p.A100A|KLK15_ENST00000596931.1_Silent_p.A99A|KLK15_ENST00000301421.2_Silent_p.A100A	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGTGGCTGCGCGCTTCGTAGC	0.672																																					Pancreas(140;10 2513 7143 9246)												0								ENSG00000174562						63	57	59					19																	51330315		2203	4298	6501	KLK15	SO:0001819	synonymous_variant	0			-	HGNC	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.300G>A	19.37:g.51330315C>T		Somatic	0	45	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A100	ENST00000598239.1	37	c.300	CCDS12805.1	19																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.672	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	protein_coding	OTTHUMT00000465160.1	C	NM_017509	-		51330315	-1	no_errors	ENST00000598239	ensembl	human	known	74_37	silent	SNP	0.000	T	T	51330315	C	T	51330315	2	4	77	1	0	0	0	0	0	0	0	1	8405	755	27	1		1	KLK15	19	51330315	Silent	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	129195	51330315	7798668	73	4284											
ZNF665	79788	genome.wustl.edu	37	chr19	53668216	53668216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtaaggtttttctccAgtatgaactctccaatgcct	6	11	2	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:53668216A>G	ENST00000600412.1	-	2	1447	c.1332T>C	c.(1330-1332)acT>acC	p.T444T	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.T509T			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	444					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(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GTTTTTCTCCAGTATGAACTC	0.393																																																	0								ENSG00000197497						120	127	125					19																	53668216		2203	4300	6503	ZNF665	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1332T>C	19.37:g.53668216A>G		Somatic	0	55	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	90	20.35	A8K5T8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T509	ENST00000600412.1	37	c.1527		19																																																																																			-	pfscan_Znf_C2H2		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	protein_coding	OTTHUMT00000464179.1	A	NM_024733	-		53668216	-1	no_errors	ENST00000396424	ensembl	human	known	74_37	silent	SNP	0.405	G	G	53668216	A	G	53668216	2	3	77	1	0	0	0	0	0	0	0	1	18080	175	7	5		5	ZNF665	19	53668216	Silent	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09	2337901	53668216	5460767	74	4285											
LILRA1	11024	genome.wustl.edu	37	chr19	55107308	55107308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgggccctgtgagccGctcctacgggggccagtaca	13	16	0	1	rs35534776	byFrequency	TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:55107308G>A	ENST00000251372.3	+	6	1048	c.866G>A	c.(865-867)cGc>cAc	p.R289H	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	289	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGTGAGCCGCTCCTACGGG	0.647																																																	0								ENSG00000104974						43	58	53					19																	55107308		2203	4300	6503	LILRA1	SO:0001583	missense	0			-	HGNC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.866G>A	19.37:g.55107308G>A	ENSP00000251372:p.Arg289His	Somatic	0	185	0		0.625730280766084	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	148	21.58	O75018|Q3MJA6	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.R289H	ENST00000251372.3	37	c.866	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	3.545	-0.092935	0.07053	.	.	ENSG00000104974	ENST00000251372	T	0.12569	2.67	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.535700	0.01092	N	0.005193	T	0.07548	0.0190	N	0.25144	0.715	0.09310	N	1	B	0.22851	0.076	B	0.21546	0.035	T	0.19451	-1.0305	10	0.11485	T	0.65	.	1.3079	0.02092	0.1666:0.3949:0.2401:0.1984	.	289	O75019	LIRA1_HUMAN	H	289	ENSP00000251372:R289H	ENSP00000251372:R289H	R	+	2	0	LILRA1	59799120	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.648000	0.01995	-1.418000	0.02014	-1.052000	0.02337	CGC	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.647	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	protein_coding	OTTHUMT00000140807.2	G	NM_006863	-		55107308	1	no_errors	ENST00000251372	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55107308	G	A	55107308	3	1	77	1	0	0	0	0	1	0	0	0	8786	1087	38	1	884	1	LILRA1	19	55107308	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	1439092	55107308	4021675	75	4286											
KIR3DL2	3812	genome.wustl.edu	37	chr19	55363537	55363537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcttcagtgtcactatcGtcgtgggtttaacaatttca	9	9	4	0	rs549922142		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr19:55363537G>A	ENST00000326321.3	+	3	188	c.155G>A	c.(154-156)cGt>cAt	p.R52H	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R52H	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	52	Ig-like C2-type 1.				cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGTCACTATCGTCGTGGGTTT	0.552													.|||	1	0.000199681	0	0.0014	5008	,	,		10951	0		0	False		,,,				2504	0																0								ENSG00000240403						9	8	9					19																	55363537		2023	3972	5995	KIR3DL2	SO:0001583	missense	0			-	HGNC	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.155G>A	19.37:g.55363537G>A	ENSP00000325525:p.Arg52His	Somatic	0	31	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub	p.R52H	ENST00000326321.3	37	c.155	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	g	0.330	-0.956797	0.02267	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.12147	2.71;2.71	1.62	-3.23	0.05109	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06872	0.0175	N	0.21448	0.665	0.09310	N	1	B;B	0.14438	0.01;0.007	B;B	0.12837	0.004;0.008	T	0.26643	-1.0097	9	0.42905	T	0.14	.	0.6215	0.00778	0.2527:0.3501:0.1559:0.2413	.	52;52	Q95366;P43630	.;KI3L2_HUMAN	H	52	ENSP00000325525:R52H;ENSP00000270442:R52H	ENSP00000270442:R52H	R	+	2	0	KIR3DL2	60055349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.463000	0.02361	-3.254000	0.00203	-1.109000	0.02080	CGT	-	pfam_Immunoglobulin,smart_Ig_sub		0.552	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	protein_coding	OTTHUMT00000141241.1	G		-		55363537	1	no_errors	ENST00000326321	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55363537	G	A	55363537	3	1	77	1	0	0	0	0	1	0	0	0	8323	1145	40	1	165	1	KIR3DL2	19	55363537	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	256229	55363537	3765446	76	4287											
TOX2	84969	genome.wustl.edu	37	chr20	42635240	42635240	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatgagatccccccgataacAcctcccaacctcccggagcc	6	19	0	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr20:42635240A>T	ENST00000358131.5	+	3	454	c.246A>T	c.(244-246)acA>acT	p.T82T	TOX2_ENST00000423191.2_Silent_p.T31T|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000372999.1_Silent_p.T31T|TOX2_ENST00000341197.4_Silent_p.T73T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	82	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCCCGATAACACCTCCCAACC	0.592																																																	0								ENSG00000124191						176	141	153					20																	42635240		2203	4300	6503	TOX2	SO:0001819	synonymous_variant	0			-	HGNC	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.246A>T	20.37:g.42635240A>T		Somatic	0	58	0		0.625730280766084	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T73	ENST00000358131.5	37	c.219	CCDS42875.1	20																																																																																			-	NULL		0.592	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	protein_coding	OTTHUMT00000079329.2	A		-		42635240	1	no_errors	ENST00000341197	ensembl	human	known	74_37	silent	SNP	0.963	T	T	42635240	A	T	42635240	2	4	77	1	0	0	0	0	0	0	0	1	16385	146	6	5		5	TOX2	20	42635240	Silent	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09		42635240	20390280	77	4288											
RTEL1	51750	genome.wustl.edu	37	chr20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgtcatcctggggcaacGctgctgctgctgctggagac							TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr20:62292822_62292824delGCT	ENST00000360203.5	+	3	599_601	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000318100.4_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645																																																	0								ENSG00000258366																																			RTEL1	SO:0001651	inframe_deletion	0				HGNC	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.274_276delGCT	20.37:g.62292831_62292833delGCT	ENSP00000353332:p.Ala96del	Somatic	0	14	0		0.625730280766084	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76		In_Frame_Del	DEL							pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A95in_frame_del	ENST00000360203.5	37	c.274_276		20																																																																																			-	superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.645	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	protein_coding	OTTHUMT00000289781.1	GCT	NM_032957			62292824	1	no_errors	ENST00000318100	ensembl	human	known	74_37	in_frame_del	DEL	0.006:0.021:0.035	-	-	62292824	GCT	-	62292822	7	5	77	1	0	1	0	1	0	0	0	0	13728	1087	38	0	280	0	RTEL1	20	62292822	In_Frame_Del	DEL	GCT	TCGA-DX-A6YR-01A-33D-A351-09	19657582	62292822	732698	78	4289											
CLDN8	9073	genome.wustl.edu	37	chr21	31588020	31588020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgcctgtaggtccGgagaaagagccagcagggaa	15	10	1	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr21:31588020G>A	ENST00000399899.1	-	1	371	c.224C>T	c.(223-225)cCg>cTg	p.P75L	CLDN8_ENST00000286809.1_Missense_Mutation_p.P75L	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	75					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|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)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CTGTAGGTCCGGAGAAAGAGC	0.507																																																	0								ENSG00000156284						89	80	83					21																	31588020		2203	4300	6503	CLDN8	SO:0001583	missense	0			-	HGNC	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"Claudins"	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.224C>T	21.37:g.31588020G>A	ENSP00000382783:p.Pro75Leu	Somatic	0	62	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	30	48.28	D3DSE3|Q53EX7	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.P75L	ENST00000399899.1	37	c.224	CCDS13587.1	21	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354496	0.61293	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.88431	-2.38;-2.38	5.05	4.15	0.48705	.	0.057668	0.64402	D	0.000001	D	0.94512	0.8233	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94468	0.7682	10	0.42905	T	0.14	.	14.7066	0.69194	0.0:0.0:0.8537:0.1463	.	75	P56748	CLD8_HUMAN	L	75	ENSP00000382783:P75L;ENSP00000286809:P75L	ENSP00000286809:P75L	P	-	2	0	CLDN8	30509891	0.985000	0.35326	0.331000	0.25455	0.819000	0.46315	2.030000	0.41108	1.453000	0.47775	0.650000	0.86243	CCG	-	pfam_PMP22/EMP/MP20/Claudin		0.507	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	protein_coding	OTTHUMT00000182260.1	G	NM_199328	-		31588020	-1	no_errors	ENST00000286809	ensembl	human	known	74_37	missense	SNP	0.789	A	A	31588020	G	A	31588020	3	1	77	1	0	0	0	0	1	0	0	0	3493	1116	39	1	457	1	CLDN8	21	31588020	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		31588020	16541875	79	4290											
MYO18B	84700	genome.wustl.edu	37	chr22	26247469	26247469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggggctcactcgcttcCgccggcaattccaggtgctg	12	14	1	0	rs371063606		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr22:26247469C>T	ENST00000407587.2	+	21	3980	c.3811C>T	c.(3811-3813)Cgc>Tgc	p.R1271C	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1270C|MYO18B_ENST00000335473.7_Missense_Mutation_p.R1270C			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1270	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CACTCGCTTCCGCCGGCAATT	0.577																																																	0								ENSG00000133454	C	CYS/ARG	1,4331		0,1,2165	32	32	32		3808	4.7	1	22		32	0,8506		0,0,4253	no	missense	MYO18B	NM_032608.5	180	0,1,6418	TT,TC,CC		0.0,0.0231,0.0078	probably-damaging	1270/2568	26247469	1,12837	2166	4253	6419	MYO18B	SO:0001583	missense	0			-	HGNC	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.3811C>T	22.37:g.26247469C>T	ENSP00000386096:p.Arg1271Cys	Somatic	0	53	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	72	29.41	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1270C	ENST00000407587.2	37	c.3808		22	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845414	0.71603	2.31E-4	0.0	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72505	-0.66;-0.66;-0.66	4.72	4.72	0.59763	Myosin head, motor domain (2);	0.129079	0.51477	D	0.000099	D	0.85741	0.5767	M	0.87180	2.865	0.50813	D	0.999893	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	D	0.88512	0.3090	10	0.87932	D	0	.	15.5835	0.76465	0.0:1.0:0.0:0.0	.	783;1270;1271;1270	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	C	1270;1270;1271	ENSP00000441229:R1270C;ENSP00000334563:R1270C;ENSP00000386096:R1271C	ENSP00000334563:R1270C	R	+	1	0	MYO18B	24577469	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.598000	0.46223	2.356000	0.79943	0.561000	0.74099	CGC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	C	NM_032608	-		26247469	1	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26247469	C	T	26247469	3	4	77	1	0	0	0	0	1	0	0	0	10068	652	23	1	3886	1	MYO18B	22	26247469	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09		26247469	25057097	80	4291											
SEZ6L	23544	genome.wustl.edu	37	chr22	26688611	26688611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcccgccccaagcacGccttgccccccaagaagaaa	10	17	0	2			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr22:26688611G>A	ENST00000248933.6	+	2	429	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SEZ6L_ENST00000343706.4_Missense_Mutation_p.A112T|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A112T|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A112T|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A112T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	112					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCCAAGCACGCCTTGCCCCC	0.647																																																	0								ENSG00000100095						43	36	39					22																	26688611		2203	4300	6503	SEZ6L	SO:0001583	missense	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.334G>A	22.37:g.26688611G>A	ENSP00000248933:p.Ala112Thr	Somatic	0	128	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	224	11.02	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A112T	ENST00000248933.6	37	c.334	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	1.111	-0.658295	0.03454	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.15	-7.7	0.01259	.	1.340970	0.05467	N	0.552354	T	0.10380	0.0254	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B;B	0.23891	0.001;0.001;0.009;0.093;0.001;0.001	B;B;B;B;B;B	0.12837	0.001;0.001;0.005;0.008;0.001;0.001	T	0.20009	-1.0288	10	0.13108	T	0.6	.	3.7933	0.08730	0.5686:0.1179:0.2071:0.1064	.	112;112;112;112;112;112	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	T	112	ENSP00000384772:A112T;ENSP00000437037:A112T;ENSP00000354185:A112T;ENSP00000248933:A112T;ENSP00000342661:A112T	ENSP00000248933:A112T	A	+	1	0	SEZ6L	25018611	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	-1.455000	0.01923	-0.300000	0.09419	GCC	-	NULL		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	G		-		26688611	1	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	SNP	0.000	A	A	26688611	G	A	26688611	3	1	77	1	0	0	0	0	1	0	0	0	14151	1087	38	1	340	1	SEZ6L	22	26688611	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	441142	26688611	24615955	81	4292											
PIM3	415116	genome.wustl.edu	37	chr22	50355434	50355434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttcgggtgcgctgctcaaGgacacggtctacaccgactt	13	12	2	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chr22:50355434G>T	ENST00000360612.4	+	4	1026	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGCTGCTCAAGGACACGGTCT	0.662																																																	0								ENSG00000198355						28	26	27					22																	50355434		2203	4300	6503	PIM3	SO:0001583	missense	0			-	HGNC	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.591G>T	22.37:g.50355434G>T	ENSP00000353824:p.Lys197Asn	Somatic	0	58	0		0.625730280766084	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K197N	ENST00000360612.4	37	c.591	CCDS33678.1	22	.	.	.	.	.	.	.	.	.	.	g	11.21	1.570848	0.28003	.	.	ENSG00000198355	ENST00000360612	T	0.18657	2.2	3.23	-2.24	0.06909	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	U	0.000000	T	0.17619	0.0423	L	0.28400	0.85	0.53005	D	0.999965	D	0.58970	0.984	P	0.54924	0.764	T	0.19614	-1.0300	10	0.87932	D	0	.	2.1105	0.03702	0.1864:0.1511:0.5072:0.1552	.	197	Q86V86	PIM3_HUMAN	N	197	ENSP00000353824:K197N	ENSP00000353824:K197N	K	+	3	2	PIM3	48741438	1.000000	0.71417	0.231000	0.23993	0.001000	0.01503	3.328000	0.52052	-0.634000	0.05538	-1.074000	0.02243	AAG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM3	protein_coding	OTTHUMT00000317406.1	G	NM_001001852	-		50355434	1	no_errors	ENST00000360612	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50355434	G	T	50355434	3	4	77	1	0	0	0	0	1	0	0	0	11931	991	35	3	605	3	PIM3	22	50355434	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	23666823	50355434	949132	82	4293											
SLC7A3	84889	genome.wustl.edu	37	chrX	70147136	70147136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagagtctcacctgaGgatgagaacacaaatcgaca	11	8	1	4			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chrX:70147136G>A	ENST00000374299.3	-	8	1426	c.1282C>T	c.(1282-1284)Ctc>Ttc	p.L428F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.L428F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	428					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTCACCTGAGGATGAGAACA	0.448																																																	0								ENSG00000165349						112	90	97					X																	70147136		2203	4300	6503	SLC7A3	SO:0001583	missense	0			-	HGNC	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1282C>T	X.37:g.70147136G>A	ENSP00000363417:p.Leu428Phe	Somatic	0	25	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	21	48.78	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.L428F	ENST00000374299.3	37	c.1282	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665709	0.67700	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	T;T	0.57752	0.38;0.38	4.93	4.06	0.47325	Amino acid permease domain (1);	0.120078	0.56097	D	0.000022	T	0.76004	0.3927	M	0.93106	3.38	0.58432	D	0.999997	P	0.43909	0.821	P	0.60012	0.867	T	0.80672	-0.1278	10	0.87932	D	0	.	12.463	0.55743	0.0:0.0:0.8315:0.1685	.	428	Q8WY07	CTR3_HUMAN	F	428	ENSP00000363417:L428F;ENSP00000298085:L428F	ENSP00000298085:L428F	L	-	1	0	SLC7A3	70063861	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.492000	0.97957	1.058000	0.40530	0.529000	0.55759	CTC	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.448	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	protein_coding	OTTHUMT00000057080.1	G	NM_032803	-		70147136	-1	no_errors	ENST00000298085	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70147136	G	A	70147136	3	1	77	1	0	0	0	0	1	0	0	0	14706	1000	35	2	597	2	SLC7A3	23	70147136	Missense_Mutation	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09		70147136	85123424	83	4294											
TAF7L	54457	genome.wustl.edu	37	chrX	100531414	100531419	+	In_Frame_Del	DEL	TCATCC	TCATCC	-													cctcttctttgtcttcatctTcatcctcatcctcatcctca					rs377399072|rs199759165		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	TCATCC	TCATCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chrX:100531414_100531419delTCATCC	ENST00000372907.3	-	10	1058_1063	c.1047_1052delGGATGA	c.(1045-1053)gaggatgaa>gaa	p.349_351EDE>E	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_In_Frame_Del_p.263_265EDE>E|TAF7L_ENST00000372905.2_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	349	Glu-rich.		Missing. {ECO:0000269|PubMed:11279525, ECO:0000269|PubMed:16597641, ECO:0000269|PubMed:17714218}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTCTtcatcttcatcctcatcctcat	0.422														459	0.121589	0.084	0.0893	3775	,	,		14668	0.0317		0.1759	False		,,,				2504	0.0787				Ovarian(104;431 1530 3210 15406 18594)												0								ENSG00000102387																																			TAF7L	SO:0001651	inframe_deletion	0				HGNC	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1047_1052delGGATGA	X.37:g.100531420_100531425delTCATCC	ENSP00000361998:p.Glu353_Asp354del	Somatic					0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	In_Frame_Del	DEL							pfam_TAFII55_prot_cons_reg	p.ED353in_frame_del	ENST00000372907.3	37	c.1052_1047	CCDS35347.1	X																																																																																			-	NULL		0.422	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	protein_coding	OTTHUMT00000057526.2	TCATCC				100531419	-1	no_errors	ENST00000372907	ensembl	human	known	74_37	in_frame_del	DEL	0.002:0.004:0.000:0.078:0.088:0.000	-	-	100531419	TCATCC	-	100531414	7	5	77	1	0	1	0	1	0	0	0	0	15540	1783	62	0	352	0	TAF7L	23	100531414	In_Frame_Del	DEL	TCATCC	TCGA-DX-A6YR-01A-33D-A351-09	30384278	100531414	54739146	84	4295											
GUCY2F	2986	genome.wustl.edu	37	chrX	108708524	108708524	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttaggacccggtagggGgtgtgcttataaggtaaact	13	7	0	0			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chrX:108708524G>T	ENST00000218006.2	-	3	1170	c.879C>A	c.(877-879)acC>acA	p.T293T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	293					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)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCCGGTAGGGGGTGTGCTTAT	0.468																																																	0								ENSG00000101890						151	123	132					X																	108708524		2203	4300	6503	GUCY2F	SO:0001819	synonymous_variant	0			-	HGNC	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.879C>A	X.37:g.108708524G>T		Somatic	0	36	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	42	37.31	Q9UJF1	Silent	SNP							pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.T293	ENST00000218006.2	37	c.879	CCDS14545.1	X																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.468	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	protein_coding	OTTHUMT00000057884.1	G	NM_001522	-		108708524	-1	no_errors	ENST00000218006	ensembl	human	known	74_37	silent	SNP	0.978	T	T	108708524	G	T	108708524	2	4	77	1	0	0	0	0	0	0	0	1	6900	1219	43	3		3	GUCY2F	23	108708524	Silent	SNP	G	TCGA-DX-A6YR-01A-33D-A351-09	8177110	108708524	46562036	85	4296											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996581	140996581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgactgccacagaaagtgcaAgctccagtgtcatgtccccc	9	15	1	1			TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chrX:140996581A>G	ENST00000285879.4	+	4	3677	c.3391A>G	c.(3391-3393)Agc>Ggc	p.S1131G	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S198G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1131										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAAGTGCAAGCTCCAGTGT	0.498										HNSCC(15;0.026)																																							0								ENSG00000155495						88	75	79					X																	140996581		2203	4300	6503	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3391A>G	X.37:g.140996581A>G	ENSP00000285879:p.Ser1131Gly	Somatic	0	41	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	8	85.71	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.S1131G	ENST00000285879.4	37	c.3391	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	a	0.962	-0.702996	0.03255	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05139	4.4;3.49	1.06	1.06	0.20224	.	.	.	.	.	T	0.08088	0.0202	L	0.51422	1.61	0.09310	N	1	P	0.43392	0.805	P	0.45506	0.483	T	0.26815	-1.0092	9	0.54805	T	0.06	.	4.0185	0.09655	1.0:0.0:0.0:0.0	.	1131	O60732	MAGC1_HUMAN	G	1131;198	ENSP00000285879:S1131G;ENSP00000385500:S198G	ENSP00000285879:S1131G	S	+	1	0	MAGEC1	140824247	0.006000	0.16342	0.009000	0.14445	0.028000	0.11728	1.347000	0.33975	0.667000	0.31107	0.231000	0.17811	AGC	-	NULL		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	A	NM_005462	-		140996581	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.009	G	G	140996581	A	G	140996581	3	3	77	1	0	0	0	0	1	0	0	0	9182	72	3	5	3397	5	MAGEC1	23	140996581	Missense_Mutation	SNP	A	TCGA-DX-A6YR-01A-33D-A351-09	32288057	140996581	14273979	86	4297											
GPR50	9248	genome.wustl.edu	37	chrX	150345294	150345294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatctttatgttctgcgCgatggttatcaccatcgttg	8	9	4	0	rs372712912		TCGA-DX-A6YR-01A-33D-A351-09	TCGA-DX-A6YR-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0851f971-c95c-4c39-8390-f62598885c5a	f97fc91e-8830-4217-9c02-02531bdffc59	g.chrX:150345294C>T	ENST00000218316.3	+	1	170	c.101C>T	c.(100-102)gCg>gTg	p.A34V	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	34					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTCTGCGCGATGGTTATC	0.522																																																	0								ENSG00000102195						128	124	125					X																	150345294		1899	4106	6005	GPR50	SO:0001583	missense	0			-	HGNC	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.101C>T	X.37:g.150345294C>T	ENSP00000218316:p.Ala34Val	Somatic	0	71	0		0.625730280766084	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	62	36.08	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.A34V	ENST00000218316.3	37	c.101	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	C	7.795	0.712382	0.15306	.	.	ENSG00000102195	ENST00000218316	T	0.33438	1.41	3.88	1.91	0.25777	.	0.704021	0.13056	N	0.417277	T	0.13927	0.0337	N	0.08118	0	0.20873	N	0.999835	B	0.09022	0.002	B	0.08055	0.003	T	0.23190	-1.0195	10	0.35671	T	0.21	0.0044	5.3749	0.16160	0.0:0.6867:0.0:0.3133	.	34	Q13585	MTR1L_HUMAN	V	34	ENSP00000218316:A34V	ENSP00000218316:A34V	A	+	2	0	GPR50	150095952	0.611000	0.26992	0.233000	0.24025	0.442000	0.32017	0.030000	0.13688	0.199000	0.20427	0.292000	0.19580	GCG	-	prints_GPCR_Rhodpsn		0.522	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	protein_coding	OTTHUMT00000060874.1	C	NM_004224	-		150345294	1	no_errors	ENST00000218316	ensembl	human	known	74_37	missense	SNP	0.649	T	T	150345294	C	T	150345294	3	4	77	1	0	0	0	0	1	0	0	0	6699	768	27	1	103	1	GPR50	23	150345294	Missense_Mutation	SNP	C	TCGA-DX-A6YR-01A-33D-A351-09	9348713	150345294	4925266	87	4298											
TMEM52	339456	genome.wustl.edu	37	chr1	1849499	1849499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtaggagggtggaggctccGgggtgtacaggctgtaggca	20	7	0	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:1849499G>T	ENST00000310991.3	-	5	459	c.452C>A	c.(451-453)cCg>cAg	p.P151Q	TMEM52_ENST00000378602.3_Missense_Mutation_p.P136Q	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	151						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	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;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGAGGCTCCGGGGTGTACAG	0.632																																																	0								ENSG00000178821						108	111	110					1																	1849499		2203	4300	6503	TMEM52	SO:0001583	missense	0			-	HGNC	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.452C>A	1.37:g.1849499G>T	ENSP00000311122:p.Pro151Gln	Somatic	0	65	0		0.572090768057978	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q4VXS6|Q6UX25	Missense_Mutation	SNP							NULL	p.P151Q	ENST00000310991.3	37	c.452	CCDS35.1	1	.	.	.	.	.	.	.	.	.	.	.	9.520	1.107999	0.20714	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.29142	1.58;1.58	3.35	2.34	0.29019	.	0.704752	0.12174	N	0.492705	T	0.33352	0.0860	L	0.40543	1.245	0.09310	N	1	D;D	0.64830	0.966;0.994	P;P	0.55545	0.74;0.778	T	0.11084	-1.0602	10	0.49607	T	0.09	-20.7213	4.0449	0.09768	0.3856:0.0:0.6144:0.0	.	151;136	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	Q	136;151	ENSP00000367865:P136Q;ENSP00000311122:P151Q	ENSP00000311122:P151Q	P	-	2	0	TMEM52	1839359	0.000000	0.05858	0.028000	0.17463	0.124000	0.20399	0.282000	0.18829	0.840000	0.34995	0.561000	0.74099	CCG	-	NULL		0.632	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM52	protein_coding	OTTHUMT00000002781.1	G	NM_178545	-		1849499	-1	no_errors	ENST00000310991	ensembl	human	known	74_37	missense	SNP	0.032	T	T	1849499	G	T	1849499	3	4	78	1	0	0	0	0	1	0	0	0	16185	1116	39	3	181	3	TMEM52	1	1849499	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		1849499	247401122	1	4299											
MACF1	23499	genome.wustl.edu	37	chr1	39800992	39800992	+	Frame_Shift_Del	DEL	A	A	-													tgatacaaatgaagagcaggAaaaagcagtgacaaaaatag							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:39800992delA	ENST00000372915.3	+	36	8834	c.8747delA	c.(8746-8748)gaafs	p.E2916fs	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Del_p.E2911fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E2948fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1351fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2916					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGAGCAGGAAAAAGCAGTG	0.348																																																	0								ENSG00000127603						47	52	51					1																	39800992		2203	4300	6503	MACF1	SO:0001589	frameshift_variant	0				HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8747delA	1.37:g.39800992delA	ENSP00000362006:p.Glu2916fs	Somatic	0	56	0		0.572090768057978	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A2950fs	ENST00000372915.3	37	c.8843		1																																																																																			-	superfamily_RNaseH-like_dom		0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	A	NM_033044			39800992	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	frame_shift_del	DEL	0.536	-	-	39800992	A	-	39800992	7	5	78	1	0	1	0	1	0	0	0	0	9146	246	9	0	8823	0	MACF1	1	39800992	Frame_Shift_Del	DEL	A	TCGA-DX-A6YU-01A-12D-A33E-09	37951493	39800992	209449629	2	4300											
CCDC30	728621	genome.wustl.edu	37	chr1	43108234	43108234	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaagtcatagagcaagaaCagttgatccacagcaacaaa	8	9	1	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:43108234C>G	ENST00000340612.4	+	11	1729	c.1729C>G	c.(1729-1731)Cag>Gag	p.Q577E	CCDC30_ENST00000342022.4_Missense_Mutation_p.Q577E|CCDC30_ENST00000428554.2_Missense_Mutation_p.Q577E|CCDC30_ENST00000507855.1_Missense_Mutation_p.Q366E|CCDC30_ENST00000390640.4_Missense_Mutation_p.Q366E			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	577						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGAGCAAGAACAGTTGATCCA	0.468																																																	0								ENSG00000186409						171	166	168					1																	43108234		2203	4300	6503	CCDC30	SO:0001583	missense	0			-	HGNC	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1729C>G	1.37:g.43108234C>G	ENSP00000340378:p.Gln577Glu	Somatic	0	66	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	62	19.48	Q14F06|Q5VVM5	Missense_Mutation	SNP							NULL	p.Q577E	ENST00000340612.4	37	c.1729	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.206028	0.00292	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.62	0.453	0.16639	.	0.272836	0.39687	N	0.001288	T	0.10680	0.0261	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26360	-1.0105	10	0.02654	T	1	.	2.5241	0.04687	0.1586:0.2869:0.4176:0.1369	.	577;366	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	E	577;366;577;577;366	ENSP00000397035:Q577E;ENSP00000426711:Q366E;ENSP00000340378:Q577E;ENSP00000339280:Q577E;ENSP00000375051:Q366E	ENSP00000340378:Q577E	Q	+	1	0	CCDC30	42880821	0.038000	0.19896	0.002000	0.10522	0.223000	0.24884	0.995000	0.29706	-0.154000	0.11118	-0.165000	0.13383	CAG	-	NULL		0.468	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	protein_coding	OTTHUMT00000019524.3	C	NM_025030	-		43108234	1	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	SNP	0.036	G	G	43108234	C	G	43108234	3	3	78	1	0	0	0	0	1	0	0	0	2807	479	17	4	1771	4	CCDC30	1	43108234	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	3307242	43108234	206142387	3	4301											
ITGA10	8515	genome.wustl.edu	37	chr1	145527693	145527693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgaatttggatacagtGtcttacaacatgttgggggt	12	5	1	1	rs146922585		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:145527693G>T	ENST00000369304.3	+	2	308	c.133G>T	c.(133-135)Gtc>Ttc	p.V45F	ITGA10_ENST00000538811.1_Silent_p.V19V|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	45					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)					TGGATACAGTGTCTTACAACA	0.527																																																	0								ENSG00000143127						125	124	125					1																	145527693		2203	4300	6503	ITGA10	SO:0001583	missense	0			-	HGNC	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.133G>T	1.37:g.145527693G>T	ENSP00000358310:p.Val45Phe	Somatic	0	88	0		0.572090768057978	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V45F	ENST00000369304.3	37	c.133	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104898	0.77096	.	.	ENSG00000143127	ENST00000369304	T	0.74421	-0.84	5.02	4.09	0.47781	.	0.000000	0.64402	D	0.000002	D	0.84615	0.5511	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.86163	0.1595	10	0.87932	D	0	.	9.5982	0.39587	0.0981:0.0:0.9019:0.0	.	45;45	O75578;O75578-2	ITA10_HUMAN;.	F	45	ENSP00000358310:V45F	ENSP00000358310:V45F	V	+	1	0	ITGA10	144239050	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.004000	0.63966	2.611000	0.88343	0.655000	0.94253	GTC	-	smart_Int_alpha_beta-p		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	G	NM_003637	-		145527693	1	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145527693	G	T	145527693	3	4	78	1	0	0	0	0	1	0	0	0	7875	1377	48	3	139	3	ITGA10	1	145527693	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	102419459	145527693	103722928	4	4302											
CD5L	922	genome.wustl.edu	37	chr1	157805788	157805788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaataccactaggggttccGctggcagctccacagcccag	10	14	0	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:157805788G>A	ENST00000368174.4	-	3	309	c.213C>T	c.(211-213)agC>agT	p.S71S	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	71	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGGGTTCCGCTGGCAGCTC	0.542																																																	0								ENSG00000073754						162	168	166					1																	157805788		2203	4300	6503	CD5L	SO:0001819	synonymous_variant	0			-	HGNC	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.213C>T	1.37:g.157805788G>A		Somatic	0	33	0		0.572090768057978	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A8K7M5|Q6UX63	Silent	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.S71	ENST00000368174.4	37	c.213	CCDS1171.1	1																																																																																			-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.542	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	protein_coding	OTTHUMT00000058346.1	G	NM_005894	-		157805788	-1	no_errors	ENST00000368174	ensembl	human	known	74_37	silent	SNP	0.000	A	A	157805788	G	A	157805788	2	1	78	1	0	0	0	0	0	0	0	1	3029	1078	38	1		1	CD5L	1	157805788	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	12278095	157805788	91444833	5	4303											
FAM78B	149297	genome.wustl.edu	37	chr1	166135346	166135346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcggaggctttgaagtagGgggtcttgtagcgcaggacg	20	6	1	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:166135346G>T	ENST00000338353.3	-	2	729	c.140C>A	c.(139-141)cCc>cAc	p.P47H	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.P47H			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	47										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTTGAAGTAGGGGGTCTTGTA	0.642																																																	0								ENSG00000188859						83	62	69					1																	166135346		2203	4300	6503	FAM78B	SO:0001583	missense	0			-	HGNC	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.140C>A	1.37:g.166135346G>T	ENSP00000339681:p.Pro47His	Somatic	0	66	0		0.572090768057978	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B7Z693	Missense_Mutation	SNP							NULL	p.P47H	ENST00000338353.3	37	c.140	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187524	0.78789	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.105217	0.64402	D	0.000003	T	0.72228	0.3434	M	0.71581	2.175	0.50313	D	0.999865	D	0.89917	1.0	D	0.87578	0.998	T	0.77362	-0.2616	8	0.87932	D	0	-27.227	14.279	0.66199	0.0:0.0:1.0:0.0	.	47	Q5VT40	FA78B_HUMAN	H	47	.	ENSP00000339681:P47H	P	-	2	0	FAM78B	164401970	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.032000	0.93736	2.205000	0.71048	0.467000	0.42956	CCC	-	NULL		0.642	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	protein_coding	OTTHUMT00000343108.1	G	NM_001017961	-		166135346	-1	no_errors	ENST00000338353	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166135346	G	T	166135346	3	4	78	1	0	0	0	0	1	0	0	0	5629	1232	43	3	653	3	FAM78B	1	166135346	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	8329558	166135346	83115275	6	4304											
GLUL	2752	genome.wustl.edu	37	chr1	182354511	182354511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaccattctcctcccGcatggccttggtgctgaagt	9	14	2	2	rs532199483	byFrequency	TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:182354511G>A	ENST00000331872.6	-	6	1324	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	GLUL_ENST00000311223.5_Missense_Mutation_p.R262W|GLUL_ENST00000339526.4_Missense_Mutation_p.R262W|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.R262W	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	262					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TTCTCCTCCCGCATGGCCTTG	0.502																																																	0								ENSG00000135821						55	52	53					1																	182354511		2203	4300	6503	GLUL	SO:0001583	missense	0			-	HGNC	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.784C>T	1.37:g.182354511G>A	ENSP00000356537:p.Arg262Trp	Somatic	0	39	0		0.572090768057978	1936	0.15	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP							pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.R262W	ENST00000331872.6	37	c.784	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104507	0.56291	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.44	2.23	0.28157	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	H	0.96604	3.85	0.80722	D	1	P	0.38800	0.648	B	0.40506	0.331	D	0.92129	0.5710	10	0.87932	D	0	-8.2927	12.5786	0.56378	0.0:0.0:0.335:0.665	.	262	P15104	GLNA_HUMAN	W	262	ENSP00000356537:R262W;ENSP00000307900:R262W;ENSP00000398320:R262W;ENSP00000344958:R262W	ENSP00000307900:R262W	R	-	1	2	GLUL	180621134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.984000	0.29565	0.652000	0.30806	-0.127000	0.14921	CGG	-	pfam_Gln_synth_cat_dom		0.502	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	protein_coding	OTTHUMT00000091043.1	G	NM_002065	-		182354511	-1	no_errors	ENST00000311223	ensembl	human	known	74_37	missense	SNP	1.000	A	A	182354511	G	A	182354511	3	1	78	1	0	0	0	0	1	0	0	0	6480	1086	38	1	345	1	GLUL	1	182354511	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	16219165	182354511	66896110	7	4305											
IGFN1	91156	genome.wustl.edu	37	chr1	201196039	201196039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaaggctccgtgctacCgggagcccgacctgagccag	14	14	0	2	rs532414867		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:201196039C>T	ENST00000335211.4	+	23	10946	c.10816C>T	c.(10816-10818)Cgg>Tgg	p.R3606W	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1149						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGTGCTACCGGGAGCCCGA	0.667													C|||	1	0.000199681	0	0	5008	,	,		14729	0.001		0	False		,,,				2504	0																0								ENSG00000163395						70	83	79					1																	201196039		2203	4293	6496	IGFN1	SO:0001583	missense	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10816C>T	1.37:g.201196039C>T	ENSP00000334714:p.Arg3606Trp	Somatic	0	51	0		0.572090768057978	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	F8WAI1|Q9NT72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R3606W	ENST00000335211.4	37	c.10816	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.68|12.68	2.010590|2.010590	0.35511|0.35511	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211	.|T	.|0.56103	.|0.48	5.05|5.05	0.152|0.152	0.14893|0.14893	.|.	.|0.486105	.|0.19668	.|N	.|0.108825	T|T	0.55986|0.55986	0.1955|0.1955	L|L	0.27053|0.27053	0.805|0.805	0.19300|0.19300	N|N	0.999979|0.999979	.|D	.|0.76494	.|0.999	.|D	.|0.71870	.|0.975	T|T	0.54997|0.54997	-0.8209|-0.8209	5|10	.|0.87932	.|D	.|0	.|.	12.7769|12.7769	0.57453|0.57453	0.7424:0.2576:0.0:0.0|0.7424:0.2576:0.0:0.0	.|.	.|3606	.|F8WAI1	.|.	L|W	1023|3606	.|ENSP00000334714:R3606W	.|ENSP00000334714:R3606W	P|R	+|+	2|1	0|2	IGFN1|IGFN1	199462662|199462662	0.091000|0.091000	0.21658|0.21658	0.014000|0.014000	0.15608|0.15608	0.221000|0.221000	0.24807|0.24807	1.315000|1.315000	0.33608|0.33608	0.119000|0.119000	0.18210|0.18210	-0.310000|-0.310000	0.09108|0.09108	CCG|CGG	-	NULL		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		C	NM_178275	-		201196039	1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	0.019	T	T	201196039	C	T	201196039	3	4	78	1	0	0	0	0	1	0	0	0	7592	643	23	1	10902	1	IGFN1	1	201196039	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	18841528	201196039	48054582	8	4306											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T													atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0								ENSG00000077157																																			PPP1R12B	SO:0001627	intron_variant	0				HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT		Somatic	0	45	0		0.572090768057978	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			-	NULL		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	-	NM_032105			202407190	1	no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	78	0	1	1	1	0	0	0	0	0	12360	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-DX-A6YU-01A-12D-A33E-09	1211150	202407189	46843432	9	4307											
TRAF3IP3	80342	genome.wustl.edu	37	chr1	209955427	209955427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcgatggctcccagtGctgatggtggtgattgctgc	17	8	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:209955427G>A	ENST00000367024.1	+	17	2106	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	TRAF3IP3_ENST00000010338.4_Silent_p.V510V|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.A142T|TRAF3IP3_ENST00000367025.3_Silent_p.V530V|TRAF3IP3_ENST00000467830.1_3'UTR|TRAF3IP3_ENST00000367026.3_Silent_p.V510V			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	530						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGCTCCCAGTGCTGATGGTGG	0.478																																																	0								ENSG00000009790						123	112	116					1																	209955427		2203	4300	6503	TRAF3IP3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1590G>A	1.37:g.209955427G>A		Somatic	0	71	0		0.572090768057978	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	40	14.89	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP							pfam_Leu_zip_homeo	p.A142T	ENST00000367024.1	37	c.424	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871136	0.33069	.	.	ENSG00000009790	ENST00000477431	T	0.50277	0.75	5.29	1.15	0.20763	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	T	0.40813	-0.9543	6	0.72032	D	0.01	2.8265	3.4085	0.07350	0.0793:0.2742:0.3649:0.2816	.	.	.	.	T	142	ENSP00000417417:A142T	ENSP00000417417:A142T	A	+	1	0	TRAF3IP3	208022050	0.529000	0.26322	0.012000	0.15200	0.772000	0.43724	0.014000	0.13333	-0.034000	0.13713	0.557000	0.71058	GCT	-	NULL		0.478	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	protein_coding	OTTHUMT00000088734.2	G		-		209955427	1	no_errors	ENST00000477431	ensembl	human	putative	74_37	missense	SNP	0.079	A	A	209955427	G	A	209955427	2	1	78	1	0	0	0	0	0	0	0	1	16449	1306	46	2		2	TRAF3IP3	1	209955427	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	7548238	209955427	39295194	10	4308											
TRIM67	440730	genome.wustl.edu	37	chr1	231342468	231342468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caacagcacctacaacgcccGagtcaaagctttcaactctt	5	15	3	0	rs201556896	byFrequency	TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr1:231342468G>T	ENST00000366653.5	+	7	1751	c.1751G>T	c.(1750-1752)cGa>cTa	p.R584L	TRIM67_ENST00000366652.2_Missense_Mutation_p.R584L|TRIM67_ENST00000444294.3_Missense_Mutation_p.R582L|TRIM67_ENST00000449018.3_Missense_Mutation_p.R522L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	584	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.R584Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TACAACGCCCGAGTCAAAGCT	0.507																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000119283						76	83	80					1																	231342468		2063	4220	6283	TRIM67	SO:0001583	missense	0			-	HGNC	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1751G>T	1.37:g.231342468G>T	ENSP00000355613:p.Arg584Leu	Somatic	0	51	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.R584L	ENST00000366653.5	37	c.1751	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651598	0.67472	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	H	0.95294	3.65	0.80722	D	1	B	0.31879	0.344	B	0.42738	0.396	T	0.71321	-0.4628	10	0.62326	D	0.03	.	19.7611	0.96319	0.0:0.0:1.0:0.0	.	584	Q6ZTA4	TRI67_HUMAN	L	582;584;522;584	ENSP00000412124:R582L;ENSP00000355612:R584L;ENSP00000400163:R522L;ENSP00000355613:R584L	ENSP00000355612:R584L	R	+	2	0	TRIM67	229409091	1.000000	0.71417	0.997000	0.53966	0.146000	0.21551	9.658000	0.98594	2.741000	0.93983	0.655000	0.94253	CGA	-	pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	protein_coding	OTTHUMT00000092649.3	G	NM_001004342	-		231342468	1	no_errors	ENST00000366652	ensembl	human	known	74_37	missense	SNP	1.000	T	T	231342468	G	T	231342468	3	4	78	1	0	0	0	0	1	0	0	0	16547	1058	37	3	1777	3	TRIM67	1	231342468	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	21387041	231342468	17908153	11	4309											
ACP1	52	genome.wustl.edu	37	chr2	272100	272100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccccctgactaccgagggCagagctgcatgaagaggcac	12	14	0	4			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:272100C>A	ENST00000272065.5	+	3	274	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	ACP1_ENST00000407983.3_Missense_Mutation_p.Q61K|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	61						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	CTACCGAGGGCAGAGCTGCAT	0.517																																																	0								ENSG00000143727						139	125	129					2																	272100		2203	4300	6503	ACP1	SO:0001583	missense	0			-	HGNC	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.181C>A	2.37:g.272100C>A	ENSP00000272065:p.Gln61Lys	Somatic	0	90	0		0.572090768057978	96	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP							pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.Q61K	ENST00000272065.5	37	c.181	CCDS1639.1	2	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639319	0.47153	.	.	ENSG00000143727	ENST00000272065;ENST00000407983	T;T	0.29917	1.55;1.55	5.63	5.63	0.86233	Phosphotyrosine protein phosphatase I superfamily (3);	.	.	.	.	T	0.30135	0.0755	L	0.38838	1.175	0.80722	D	1	B;B	0.29766	0.003;0.256	B;B	0.33960	0.005;0.173	T	0.03130	-1.1069	9	0.37606	T	0.19	.	17.5236	0.87793	0.0:1.0:0.0:0.0	.	61;61	P24666;B5MCC7	PPAC_HUMAN;.	K	61	ENSP00000272065:Q61K;ENSP00000385404:Q61K	ENSP00000272065:Q61K	Q	+	1	0	ACP1	262100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.424000	0.80242	2.797000	0.96272	0.655000	0.94253	CAG	-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_phospatase/Ars_reductase		0.517	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	protein_coding	OTTHUMT00000195862.3	C		-		272100	1	no_errors	ENST00000272065	ensembl	human	known	74_37	missense	SNP	1.000	A	A	272100	C	A	272100	3	1	78	1	0	0	0	0	1	0	0	0	162	711	25	3	191	3	ACP1	2	272100	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09		272100	242927273	12	4310			1	53		2	2	30	C		9.273807e-05
ACP1	52	genome.wustl.edu	37	chr2	272129	272129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaggcacggcattccCatgagccacgttgcccggca	12	13	0	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:272129C>T	ENST00000272065.5	+	3	303	c.210C>T	c.(208-210)ccC>ccT	p.P70P	ACP1_ENST00000407983.3_Silent_p.P70P|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	70						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	ACGGCATTCCCATGAGCCACG	0.572																																																	0								ENSG00000143727						162	139	147					2																	272129		2203	4300	6503	ACP1	SO:0001819	synonymous_variant	0			-	HGNC	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.210C>T	2.37:g.272129C>T		Somatic	0	80	0		0.572090768057978	106	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Silent	SNP							pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.P70	ENST00000272065.5	37	c.210	CCDS1639.1	2																																																																																			-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF		0.572	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	protein_coding	OTTHUMT00000195862.3	C		-		272129	1	no_errors	ENST00000272065	ensembl	human	known	74_37	silent	SNP	1.000	T	T	272129	C	T	272129	2	4	78	1	0	0	0	0	0	0	0	1	162	581	21	2		2	ACP1	2	272129	Silent	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	29	272129	242927244	13	4311			1	53		2	2	30	C		9.273807e-05
YWHAQ	10971	genome.wustl.edu	37	chr2	9770428	9770428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggacctgcggcccccgaCcacgttcttgtaggccacgg	14	16	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:9770428C>T	ENST00000381844.4	-	1	317	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	YWHAQ_ENST00000238081.3_Missense_Mutation_p.V52I			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	52					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CGGCCCCCGACCACGTTCTTG	0.607																																																	0								ENSG00000134308						51	53	52					2																	9770428		2203	4300	6503	YWHAQ	SO:0001583	missense	0			-	HGNC	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.154G>A	2.37:g.9770428C>T	ENSP00000371267:p.Val52Ile	Somatic	0	42	0		0.572090768057978	513	0.19	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP							pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.V52I	ENST00000381844.4	37	c.154	CCDS1666.1	2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825734	0.90955	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	T;T;T	0.38401	1.14;1.14;1.14	5.23	5.23	0.72850	14-3-3 domain (4);	0.000000	0.64402	D	0.000013	T	0.41673	0.1169	L	0.35644	1.08	0.58432	D	0.999999	B	0.24092	0.097	P	0.45343	0.477	T	0.13737	-1.0498	10	0.02654	T	1	.	18.7935	0.91983	0.0:1.0:0.0:0.0	.	52	P27348	1433T_HUMAN	I	52;52;17;52	ENSP00000238081:V52I;ENSP00000371267:V52I;ENSP00000398990:V52I	ENSP00000238081:V52I	V	-	1	0	YWHAQ	9687879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.438000	0.82558	0.491000	0.48974	GTC	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.607	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	protein_coding	OTTHUMT00000039014.4	C	NM_006826	-		9770428	-1	no_errors	ENST00000238081	ensembl	human	known	74_37	missense	SNP	1.000	T	T	9770428	C	T	9770428	3	4	78	1	0	0	0	0	1	0	0	0	17512	507	18	2	603	2	YWHAQ	2	9770428	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	9498299	9770428	233428945	14	4312											
THNSL2	55258	genome.wustl.edu	37	chr2	88484878	88484878	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgacatccgtgtcagtgtCggatgaagccatcacccaga	11	11	2	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:88484878C>A	ENST00000324166.5	+	7	2800	c.1109C>A	c.(1108-1110)tCg>tAg	p.S370*	THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000358591.2_Nonsense_Mutation_p.S370*|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	370					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTGTCAGTGTCGGATGAAGCC	0.572																																																	0								ENSG00000144115						40	46	44					2																	88484878		2180	4289	6469	THNSL2	SO:0001587	stop_gained	0			-	HGNC		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1109C>A	2.37:g.88484878C>A	ENSP00000327323:p.Ser370*	Somatic	0	41	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Nonsense_Mutation	SNP							pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.S370*	ENST00000324166.5	37	c.1109	CCDS2002.2	2	.	.	.	.	.	.	.	.	.	.	C	48	14.431868	0.99795	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	.	.	.	5.81	3.97	0.46021	.	0.530317	0.20118	N	0.098866	.	.	.	.	.	.	0.22796	N	0.998729	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.589	0.45298	0.0:0.7949:0.1336:0.0715	.	.	.	.	X	370	.	ENSP00000327323:S370X	S	+	2	0	THNSL2	88265993	0.964000	0.33143	0.042000	0.18584	0.005000	0.04900	2.336000	0.43938	0.758000	0.33059	0.655000	0.94253	TCG	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like		0.572	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	protein_coding	OTTHUMT00000252662.1	C	NM_018271	-		88484878	1	no_errors	ENST00000324166	ensembl	human	known	74_37	nonsense	SNP	0.075	A	A	88484878	C	A	88484878	4	1	78	1	0	0	0	0	0	1	0	0	15870	893	31	3	1135	3	THNSL2	2	88484878	Nonsense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	78714450	88484878	154714495	15	4313											
LIMS2	55679	genome.wustl.edu	37	chr2	128415042	128415042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagcagtgctcatggtAcagctccccattgctgttga	10	12	1	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:128415042A>C	ENST00000355119.4	-	2	271	c.106T>G	c.(106-108)Tac>Gac	p.Y36D	LIMS2_ENST00000545738.2_Missense_Mutation_p.Y58D|LIMS2_ENST00000409808.2_Missense_Mutation_p.Y31D|LIMS2_ENST00000410011.1_Missense_Mutation_p.Y31D|LIMS2_ENST00000409455.1_Missense_Mutation_p.Y31D|LIMS2_ENST00000324938.5_Missense_Mutation_p.Y60D	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	36	LIM zinc-binding 1. {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)		TGCTCATGGTACAGCTCCCCA	0.632																																																	0								ENSG00000072163						101	87	92					2																	128415042		2203	4300	6503	LIMS2	SO:0001583	missense	0			-	HGNC	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.106T>G	2.37:g.128415042A>C	ENSP00000347240:p.Tyr36Asp	Somatic	0	71	0		0.572090768057978	60	10.29	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	49	24.62	A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP							pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.Y60D	ENST00000355119.4	37	c.178	CCDS54395.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324018	0.81580	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.25	5.25	0.73442	Zinc finger, LIM-type (5);	0.214672	0.41605	D	0.000860	D	0.97383	0.9144	H	0.96720	3.87	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.983;0.985;0.929	D	0.98753	1.0721	10	0.87932	D	0	.	15.1498	0.72689	1.0:0.0:0.0:0.0	.	58;36;60	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	D	58;36;60;31;31;31;31;58;31	ENSP00000443794:Y58D;ENSP00000347240:Y36D;ENSP00000326888:Y60D;ENSP00000386383:Y31D;ENSP00000386637:Y31D;ENSP00000387002:Y31D	ENSP00000326888:Y60D	Y	-	1	0	LIMS2	128131512	1.000000	0.71417	0.993000	0.49108	0.710000	0.40934	7.395000	0.79876	1.982000	0.57802	0.379000	0.24179	TAC	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM		0.632	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LIMS2	protein_coding	OTTHUMT00000331133.2	A	NM_017980	-		128415042	-1	no_errors	ENST00000324938	ensembl	human	known	74_37	missense	SNP	1.000	C	C	128415042	A	C	128415042	3	2	78	1	0	0	0	0	1	0	0	0	8806	391	14	5	955	5	LIMS2	2	128415042	Missense_Mutation	SNP	A	TCGA-DX-A6YU-01A-12D-A33E-09	39930164	128415042	114784331	16	4314											
USP37	57695	genome.wustl.edu	37	chr2	219374834	219374834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcccaaacttcttttgGcagagggagtctggcttgaa	11	8	2	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:219374834G>T	ENST00000258399.3	-	11	1305	c.893C>A	c.(892-894)gCc>gAc	p.A298D	USP37_ENST00000415516.1_Missense_Mutation_p.A226D|USP37_ENST00000454775.1_Missense_Mutation_p.A298D|USP37_ENST00000418019.1_Missense_Mutation_p.A298D	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	298					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTTCTTTTGGCAGAGGGAGT	0.363																																																	0								ENSG00000135913						95	97	96					2																	219374834		2203	4300	6503	USP37	SO:0001583	missense	0			-	HGNC	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.893C>A	2.37:g.219374834G>T	ENSP00000258399:p.Ala298Asp	Somatic	0	64	0		0.572090768057978	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.A298D	ENST00000258399.3	37	c.893	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435726	0.62955	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.45668	0.89;0.89;0.9;0.89	5.82	5.82	0.92795	.	0.056823	0.64402	D	0.000001	T	0.59838	0.2223	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.878	T	0.48317	-0.9046	10	0.17832	T	0.49	-6.8265	20.0951	0.97834	0.0:0.0:1.0:0.0	.	226;298	Q86T82-2;Q86T82	.;UBP37_HUMAN	D	298;298;226;298	ENSP00000258399:A298D;ENSP00000393662:A298D;ENSP00000400902:A226D;ENSP00000396585:A298D	ENSP00000258399:A298D	A	-	2	0	USP37	219083078	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.464000	0.73534	2.753000	0.94483	0.467000	0.42956	GCC	-	NULL		0.363	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	protein_coding	OTTHUMT00000256779.3	G	NM_020935	-		219374834	-1	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	SNP	1.000	T	T	219374834	G	T	219374834	3	4	78	1	0	0	0	0	1	0	0	0	17075	1203	42	3	2110	3	USP37	2	219374834	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	90959792	219374834	23824539	17	4315											
AGFG1	3267	genome.wustl.edu	37	chr2	228389621	228389621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaactttgcacatttcaaCagtcatgcaggtaagtgttt	8	8	2	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:228389621C>A	ENST00000310078.8	+	5	944	c.684C>A	c.(682-684)aaC>aaA	p.N228K	AGFG1_ENST00000373671.3_Missense_Mutation_p.N228K|AGFG1_ENST00000409315.1_Missense_Mutation_p.N228K|AGFG1_ENST00000409979.2_Missense_Mutation_p.N228K|AGFG1_ENST00000409171.1_Missense_Mutation_p.N228K	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	228					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CACATTTCAACAGTCATGCAG	0.403																																																	0								ENSG00000173744						138	125	129					2																	228389621		2203	4300	6503	AGFG1	SO:0001583	missense	0			-	HGNC		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.684C>A	2.37:g.228389621C>A	ENSP00000312059:p.Asn228Lys	Somatic	0	68	0		0.572090768057978	68	19.77	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP							pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.N228K	ENST00000310078.8	37	c.684	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132737	0.77662	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.24350	1.88;1.86;1.86;1.95;1.86	6.08	4.29	0.51040	.	0.044828	0.85682	D	0.000000	T	0.41419	0.1158	L	0.54323	1.7	0.80722	D	1	P;D;D;D	0.69078	0.948;0.991;0.997;0.985	P;P;D;P	0.75484	0.648;0.805;0.986;0.643	T	0.17531	-1.0366	10	0.13470	T	0.59	.	12.7451	0.57278	0.0:0.8675:0.0:0.1325	.	228;228;228;228	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	K	228;213;228;228;228;228;150	ENSP00000387282:N228K;ENSP00000312059:N228K;ENSP00000387154:N228K;ENSP00000362775:N228K;ENSP00000387218:N228K	ENSP00000312059:N228K	N	+	3	2	AGFG1	228097865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.119000	0.50422	0.896000	0.36366	0.591000	0.81541	AAC	-	NULL		0.403	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	protein_coding	OTTHUMT00000256895.2	C	NM_004504	-		228389621	1	no_errors	ENST00000409979	ensembl	human	known	74_37	missense	SNP	1.000	A	A	228389621	C	A	228389621	3	1	78	1	0	0	0	0	1	0	0	0	380	477	17	3	702	3	AGFG1	2	228389621	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	9014787	228389621	14809752	18	4316											
RBM44	375316	genome.wustl.edu	37	chr2	238737936	238737936	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgggatagaaataaatGgaaagtcagtaaatgtgtgg	13	1	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:238737936G>T	ENST00000409864.1	+	13	2934	c.2680G>T	c.(2680-2682)Gga>Tga	p.G894*	RBM44_ENST00000316997.4_Nonsense_Mutation_p.G894*			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	893	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			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)		AGAAATAAATGGAAAGTCAGT	0.328																																																	0								ENSG00000177483						111	107	108					2																	238737936		1834	4087	5921	RBM44	SO:0001587	stop_gained	0			-	HGNC	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.2680G>T	2.37:g.238737936G>T	ENSP00000386727:p.Gly894*	Somatic	0	30	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A0AUW3	Nonsense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G894*	ENST00000409864.1	37	c.2680	CCDS46554.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.223700	0.99106	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5154	13.3283	0.60473	0.0:0.0:1.0:0.0	.	.	.	.	X	894	.	ENSP00000321179:G894X	G	+	1	0	RBM44	238402675	1.000000	0.71417	0.978000	0.43139	0.964000	0.63967	3.617000	0.54181	2.274000	0.75844	0.551000	0.68910	GGA	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.328	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	protein_coding	OTTHUMT00000328733.2	G	NM_001080504	-		238737936	1	no_errors	ENST00000316997	ensembl	human	known	74_37	nonsense	SNP	0.996	T	T	238737936	G	T	238737936	4	4	78	1	0	0	0	0	0	1	0	0	13146	1349	47	3	2726	3	RBM44	2	238737936	Nonsense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	10348315	238737936	4461437	19	4317											
AGXT	189	genome.wustl.edu	37	chr2	241808604	241808604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatcatggacgagatcaaGgaaggcatccagtacgtgtt	12	8	2	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr2:241808604G>T	ENST00000307503.3	+	2	570	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	61					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 (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	ACGAGATCAAGGAAGGCATCC	0.617																																																	0								ENSG00000172482						145	119	128					2																	241808604		2203	4300	6503	AGXT	SO:0001583	missense	0			-	HGNC	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.183G>T	2.37:g.241808604G>T	ENSP00000302620:p.Lys61Asn	Somatic	0	45	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	Q53QU6	Missense_Mutation	SNP							pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.K61N	ENST00000307503.3	37	c.183	CCDS2543.1	2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072712	0.55646	.	.	ENSG00000172482	ENST00000307503	D	0.87412	-2.25	4.13	2.94	0.34122	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.92198	0.7526	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91862	0.5500	10	0.52906	T	0.07	-34.7233	10.6704	0.45755	0.1405:0.0:0.8595:0.0	.	61;61	B7Z548;P21549	.;SPYA_HUMAN	N	61	ENSP00000302620:K61N	ENSP00000302620:K61N	K	+	3	2	AGXT	241457277	0.996000	0.38824	1.000000	0.80357	0.799000	0.45148	2.328000	0.43867	2.018000	0.59344	0.491000	0.48974	AAG	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase		0.617	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	protein_coding	OTTHUMT00000257186.1	G	NM_000030	-		241808604	1	no_errors	ENST00000307503	ensembl	human	known	74_37	missense	SNP	0.890	T	T	241808604	G	T	241808604	3	4	78	1	0	0	0	0	1	0	0	0	404	991	35	3	189	3	AGXT	2	241808604	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	3070668	241808604	1390769	20	4318											
SRGAP3	9901	genome.wustl.edu	37	chr3	9101969	9101969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttatagctgcgttggtGgctgccagattgagcaagta	13	7	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:9101969G>T	ENST00000383836.3	-	6	1174	c.747C>A	c.(745-747)gcC>gcA	p.A249A	SRGAP3_ENST00000360413.3_Silent_p.A249A|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	249	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGCGTTGGTGGCTGCCAGAT	0.507			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0								ENSG00000196220						223	194	204					3																	9101969		2203	4300	6503	SRGAP3	SO:0001819	synonymous_variant	0			-	HGNC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.747C>A	3.37:g.9101969G>T		Somatic	0	88	0		0.572090768057978	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q8IX13|Q8IZV8	Silent	SNP							pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A249	ENST00000383836.3	37	c.747	CCDS2572.1	3																																																																																			-	NULL		0.507	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	protein_coding	OTTHUMT00000207137.3	G		-		9101969	-1	no_errors	ENST00000383836	ensembl	human	known	74_37	silent	SNP	1.000	T	T	9101969	G	T	9101969	2	4	78	1	0	0	0	0	0	0	0	1	15154	1335	47	3		3	SRGAP3	3	9101969	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		9101969	188920461	21	4319											
SLC6A11	6538	genome.wustl.edu	37	chr3	10916711	10916711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgatacgaggggtcacGttgcccggggcctcagaggg	16	12	2	2	rs144481019		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:10916711G>A	ENST00000254488.2	+	6	888	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	274					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T274T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GAGGGGTCACGTTGCCCGGGG	0.557																																																	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)						ENSG00000132164	G		0,4406		0,0,2203	212	188	196		822	-3.5	0.7	3	dbSNP_134	196	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		274/633	10916711	4,13002	2203	4300	6503	SLC6A11	SO:0001819	synonymous_variant	0			-	HGNC	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.822G>A	3.37:g.10916711G>A		Somatic	0	73	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	B2R6U6|Q8IYC9	Silent	SNP							pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.T274	ENST00000254488.2	37	c.822	CCDS2602.1	3																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.557	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	protein_coding	OTTHUMT00000251927.1	G	NM_014229	rs144481019		10916711	1	no_errors	ENST00000254488	ensembl	human	known	74_37	silent	SNP	0.096	A	A	10916711	G	A	10916711	2	1	78	1	0	0	0	0	0	0	0	1	14682	1132	40	1		1	SLC6A11	3	10916711	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	1814742	10916711	187105719	22	4320											
NR2C2	7182	genome.wustl.edu	37	chr3	15062399	15062399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaccgctgtcagttttgCcggctgaaaaaatgcttaga	11	9	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:15062399C>T	ENST00000425241.1	+	5	878	c.516C>T	c.(514-516)tgC>tgT	p.C172C	NR2C2_ENST00000406272.2_Silent_p.C172C|NR2C2_ENST00000393102.3_Silent_p.C172C|NR2C2_ENST00000323373.6_Silent_p.C191C			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	172					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCAGTTTTGCCGGCTGAAAA	0.418																																																	0								ENSG00000177463						93	90	91					3																	15062399		2203	4300	6503	NR2C2	SO:0001819	synonymous_variant	0			-	HGNC	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.516C>T	3.37:g.15062399C>T		Somatic	0	84	0		0.572090768057978	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K3H5|B6ZGT8|P55092	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.C191	ENST00000425241.1	37	c.573		3																																																																																			-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.418	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	protein_coding	OTTHUMT00000340729.1	C	NM_003298	-		15062399	1	no_errors	ENST00000323373	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15062399	C	T	15062399	2	4	78	1	0	0	0	0	0	0	0	1	10625	747	26	2		2	NR2C2	3	15062399	Silent	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	4145688	15062399	182960031	23	4321											
NME6	10201	genome.wustl.edu	37	chr3	48339991	48339991	+	Frame_Shift_Del	DEL	G	G	-													ctggagagcctgagggcttcGcaagattgaggccatctcac							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:48339991delG	ENST00000452211.1	-	3	253	c.16delC	c.(16-18)cgafs	p.R6fs	NME6_ENST00000421967.1_Frame_Shift_Del_p.R14fs|NME6_ENST00000447314.1_Intron|NME6_ENST00000444069.1_Intron|NME6_ENST00000415644.1_Frame_Shift_Del_p.R6fs|NME6_ENST00000415053.1_Frame_Shift_Del_p.R6fs|NME6_ENST00000451657.1_Frame_Shift_Del_p.R6fs|NME6_ENST00000435684.1_Frame_Shift_Del_p.R6fs|NME6_ENST00000442597.1_Frame_Shift_Del_p.R6fs|NME6_ENST00000426689.2_Frame_Shift_Del_p.R6fs|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Frame_Shift_Del_p.R6fs|NME6_ENST00000426723.1_Frame_Shift_Del_p.R6fs			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	6					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGGGCTTCGCAAGATTGAG	0.547																																																	0								ENSG00000172113						85	67	73					3																	48339991		2203	4300	6503	NME6	SO:0001589	frameshift_variant	0				HGNC	AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.16delC	3.37:g.48339991delG	ENSP00000392352:p.Arg6fs	Somatic	0	52	0		0.572090768057978	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Frame_Shift_Del	DEL							pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.R14fs	ENST00000452211.1	37	c.40		3																																																																																			-	NULL		0.547	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	NME6	protein_coding	OTTHUMT00000346107.1	G	NM_005793			48339991	-1	no_errors	ENST00000421967	ensembl	human	known	74_37	frame_shift_del	DEL	0.541	-	-	48339991	G	-	48339991	7	5	78	1	0	1	0	1	0	0	0	0	10497	1095	38	0	564	0	NME6	3	48339991	Frame_Shift_Del	DEL	G	TCGA-DX-A6YU-01A-12D-A33E-09	33277592	48339991	149682439	24	4322											
PLXNB1	5364	genome.wustl.edu	37	chr3	48462153	48462153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagacacaccagttacacCcccagcggctgctcacacag	8	18	1	1	rs374536221		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:48462153C>A	ENST00000358536.4	-	10	2218	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V	PLXNB1_ENST00000456774.1_Missense_Mutation_p.G650V|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G650V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G650V|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	650					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)		CCAGTTACACCCCCAGCGGCT	0.642																																																	0								ENSG00000164050	T	VAL/GLY,VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	54	48	50		1949,1949	4.4	1	3		50	0,8600		0,0,4300	no	missense,missense	PLXNB1	NM_001130082.1,NM_002673.4	109,109	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	650/2136,650/2136	48462153	1,13005	2203	4300	6503	PLXNB1	SO:0001583	missense	0			-	HGNC	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.1949G>T	3.37:g.48462153C>A	ENSP00000351338:p.Gly650Val	Somatic	0	84	0		0.572090768057978	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G650V	ENST00000358536.4	37	c.1949	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	c	18.82	3.704557	0.68615	2.27E-4	0.0	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03386	3.95;3.97;3.95;3.97	5.24	4.38	0.52667	.	0.063397	0.64402	D	0.000008	T	0.16811	0.0404	M	0.80746	2.51	0.80722	D	1	D;P	0.89917	1.0;0.869	D;P	0.74674	0.984;0.731	T	0.02047	-1.1223	10	0.30854	T	0.27	.	13.1637	0.59558	0.0:0.923:0.0:0.077	.	650;650	O43157;O43157-2	PLXB1_HUMAN;.	V	650	ENSP00000296440:G650V;ENSP00000351242:G650V;ENSP00000351338:G650V;ENSP00000414199:G650V	ENSP00000296440:G650V	G	-	2	0	PLXNB1	48437157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.664000	0.61540	1.242000	0.43836	-0.215000	0.12644	GGG	-	superfamily_Plexin-like_fold,smart_Plexin-like_fold		0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	C	NM_002673	-		48462153	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48462153	C	A	48462153	3	1	78	1	0	0	0	0	1	0	0	0	12125	623	22	3	4574	3	PLXNB1	3	48462153	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	122162	48462153	149560277	25	4323											
DOCK3	1795	genome.wustl.edu	37	chr3	51264843	51264843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgaccggttccggggcTcccacctgcgctttgagttc	11	15	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:51264843T>C	ENST00000266037.9	+	16	1530	c.1507T>C	c.(1507-1509)Tcc>Ccc	p.S503P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	503	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCCGGGGCTCCCACCTGCG	0.473																																																	0								ENSG00000088538						90	89	89					3																	51264843		1840	4079	5919	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1507T>C	3.37:g.51264843T>C	ENSP00000266037:p.Ser503Pro	Somatic	0	33	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	13.79	O15017	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S503P	ENST00000266037.9	37	c.1507	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535613	0.85812	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.35847	-0.9772	10	0.54805	T	0.06	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	503	Q8IZD9	DOCK3_HUMAN	P	503	ENSP00000266037:S503P	ENSP00000266037:S503P	S	+	1	0	DOCK3	51239883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.320000	0.78422	0.528000	0.53228	TCC	-	NULL		0.473	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	T	NM_004947	-		51264843	1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	C	C	51264843	T	C	51264843	3	2	78	1	0	0	0	0	1	0	0	0	4690	1551	54	5	1569	5	DOCK3	3	51264843	Missense_Mutation	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09	2802690	51264843	146757587	26	4324											
PDE12	201626	genome.wustl.edu	37	chr3	57545573	57545573	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attatgttggtggctttcatGgatgtctagattacattttc	9	5	2	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:57545573G>T	ENST00000311180.8	+	3	1775	c.1672G>T	c.(1672-1674)Gga>Tga	p.G558*	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	558					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGCTTTCATGGATGTCTAGA	0.408																																					Colon(125;308 1634 19198 50622 50717)												0								ENSG00000174840						264	252	256					3																	57545573		2203	4300	6503	PDE12	SO:0001587	stop_gained	0			-	HGNC	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1672G>T	3.37:g.57545573G>T	ENSP00000309142:p.Gly558*	Somatic	0	43	0		0.572090768057978	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Nonsense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.G558*	ENST00000311180.8	37	c.1672	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.041391	0.98021	.	.	ENSG00000174840	ENST00000311180	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6179	20.1197	0.97955	0.0:0.0:1.0:0.0	.	.	.	.	X	558	.	ENSP00000309142:G558X	G	+	1	0	PDE12	57520613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.755000	0.94549	0.557000	0.71058	GGA	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.408	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	protein_coding	OTTHUMT00000351440.2	G	NM_177966	-		57545573	1	no_errors	ENST00000311180	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	57545573	G	T	57545573	4	4	78	1	0	0	0	0	0	1	0	0	11634	1349	47	3	1682	3	PDE12	3	57545573	Nonsense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	6280730	57545573	140476857	27	4325											
SIDT1	54847	genome.wustl.edu	37	chr3	113342518	113342518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgctcttctgcatcgtgGccaccgctgtgatgtgggct	12	14	2	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:113342518G>A	ENST00000264852.4	+	23	2971	c.2245G>A	c.(2245-2247)Gcc>Acc	p.A749T	SIDT1_ENST00000393830.3_Missense_Mutation_p.A754T|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	749					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTGCATCGTGGCCACCGCTGT	0.577																																																	0								ENSG00000072858						103	105	105					3																	113342518		2203	4300	6503	SIDT1	SO:0001583	missense	0			-	HGNC	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2245G>A	3.37:g.113342518G>A	ENSP00000264852:p.Ala749Thr	Somatic	0	37	0		0.572090768057978	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q17RR4	Missense_Mutation	SNP							NULL	p.A754T	ENST00000264852.4	37	c.2260	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769590	0.90020	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.24723	1.84;1.84	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	T	0.35740	0.0942	L	0.58101	1.795	0.54753	D	0.999987	P;P	0.44241	0.829;0.749	P;P	0.45449	0.481;0.462	T	0.04386	-1.0955	10	0.49607	T	0.09	-19.5746	18.6103	0.91283	0.0:0.0:1.0:0.0	.	754;749	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	T	749;754	ENSP00000264852:A749T;ENSP00000377416:A754T	ENSP00000264852:A749T	A	+	1	0	SIDT1	114825208	1.000000	0.71417	0.964000	0.40570	0.975000	0.68041	4.438000	0.59961	2.695000	0.91970	0.561000	0.74099	GCC	-	NULL		0.577	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	protein_coding	OTTHUMT00000317564.1	G	NM_017699	-		113342518	1	no_errors	ENST00000393830	ensembl	human	known	74_37	missense	SNP	0.995	A	A	113342518	G	A	113342518	3	1	78	1	0	0	0	0	1	0	0	0	14310	1203	42	2	2335	2	SIDT1	3	113342518	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	55796945	113342518	84679912	28	4326											
ACAD9	28976	genome.wustl.edu	37	chr3	128627900	128627900	+	Frame_Shift_Del	DEL	G	G	-													ctgggccgaactgtggacctGgggctgacaggcaaccatgg							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:128627900delG	ENST00000308982.7	+	14	1524	c.1443delG	c.(1441-1443)ctgfs	p.L481fs	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	481						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGTGGACCTGGGGCTGACAG	0.577																																																	0								ENSG00000177646						65	58	60					3																	128627900		2203	4300	6503	ACAD9	SO:0001589	frameshift_variant	0				HGNC	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1443delG	3.37:g.128627900delG	ENSP00000312618:p.Leu481fs	Somatic	0	38	0		0.572090768057978	85	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	D3DNB8|Q8WXX3	Frame_Shift_Del	DEL							pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L483fs	ENST00000308982.7	37	c.1443	CCDS3053.1	3																																																																																			-	NULL		0.577	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	protein_coding	OTTHUMT00000358405.1	G	NM_014049			128627900	1	no_errors	ENST00000308982	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	128627900	G	-	128627900	7	5	78	1	0	1	0	1	0	0	0	0	111	1335	47	0	1497	0	ACAD9	3	128627900	Frame_Shift_Del	DEL	G	TCGA-DX-A6YU-01A-12D-A33E-09	15285382	128627900	69394530	29	4327											
C3orf72	401089	genome.wustl.edu	37	chr3	138668445	138668445	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctccccaagatgtgccttCacatggctgtccggcattcg	10	14	2	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:138668445C>A	ENST00000383165.3	+	2	315	c.184C>A	c.(184-186)Cac>Aac	p.H62N	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		62										large_intestine(1)|lung(3)	4						GATGTGCCTTCACATGGCTGT	0.567																																																	0								ENSG00000206262						73	77	76					3																	138668445		1943	4155	6098	C3orf72	SO:0001583	missense	0			-	HGNC																												ENST00000383165.3:c.184C>A	3.37:g.138668445C>A	ENSP00000372651:p.His62Asn	Somatic	0	59	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A6NGX0	Missense_Mutation	SNP							NULL	p.H62N	ENST00000383165.3	37	c.184	CCDS43155.1	3	.	.	.	.	.	.	.	.	.	.	C	5.372	0.253939	0.10185	.	.	ENSG00000206262	ENST00000383165	.	.	.	2.75	-1.66	0.08265	.	.	.	.	.	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.24941	-1.0146	8	0.87932	D	0	.	0.3587	0.00361	0.2105:0.3315:0.1899:0.2681	.	62	Q6ZUU3	CC072_HUMAN	N	62	.	ENSP00000372651:H62N	H	+	1	0	C3orf72	140151135	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.722000	0.04958	-0.432000	0.07297	-0.226000	0.12346	CAC	-	NULL		0.567	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf72	protein_coding	OTTHUMT00000357986.1	C		-		138668445	1	no_errors	ENST00000383165	ensembl	human	known	74_37	missense	SNP	0.000	A	A	138668445	C	A	138668445	3	1	78	1	0	0	0	0	1	0	0	0	2246	826	29	3	190	3	C3orf72	3	138668445	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	10040545	138668445	59353985	30	4328											
VEPH1	79674	genome.wustl.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T													atgctttcactttgctgaggINStttttttttaagtgcaagta							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396																																																	0								ENSG00000197415																																			VEPH1	SO:0001589	frameshift_variant	0				HGNC	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1662dupA	3.37:g.157081235_157081235dupT	ENSP00000354919:p.Asn554fs	Somatic	0	27	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Ins	INS							pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N554fs	ENST00000362010.2	37	c.1662_1661	CCDS3179.1	3																																																																																			-	NULL		0.396	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	protein_coding	OTTHUMT00000351845.3	-	NM_024621			157081227	-1	no_errors	ENST00000362010	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	157081227	-	T	157081226	7	5	78	1	0	1	1	0	0	0	0	0	17161	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-DX-A6YU-01A-12D-A33E-09	18412781	157081226	40941204	31	4329											
ALG3	10195	genome.wustl.edu	37	chr3	183960417	183960417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagcagagctgcaggatgtgGaagggtatgtgttccaggag	17	6	0	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:183960417G>T	ENST00000397676.3	-	9	1232	c.1202C>A	c.(1201-1203)tCc>tAc	p.S401Y	ALG3_ENST00000455059.1_Missense_Mutation_p.S361Y|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Missense_Mutation_p.S345Y|ALG3_ENST00000445626.2_Missense_Mutation_p.S353Y|MIR1224_ENST00000408193.1_RNA|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	401					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGATGTGGAAGGGTATGT	0.587																																																	0								ENSG00000214160						61	65	64					3																	183960417		2065	4217	6282	ALG3	SO:0001583	missense	0			-	HGNC	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1202C>A	3.37:g.183960417G>T	ENSP00000380793:p.Ser401Tyr	Somatic	0	45	0		0.572090768057978	158	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8JZZ6|Q9BT71	Missense_Mutation	SNP							pfam_Glycosyltransferase_ALG3	p.S401Y	ENST00000397676.3	37	c.1202	CCDS46968.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.426752|4.426752	0.83667|0.83667	.|.	.|.	ENSG00000214160|ENSG00000214160	ENST00000446569|ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	.|D;D;D;D	.|0.89552	.|-2.53;-2.53;-2.53;-2.53	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.96253|0.96253	0.8778|0.8778	H|H	0.94925|0.94925	3.6|3.6	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.999	.|D;D;D;D	.|0.79784	.|0.96;0.982;0.993;0.972	D|D	0.97059|0.97059	0.9769|0.9769	5|10	.|0.87932	.|D	.|0	-20.5003|-20.5003	18.6456|18.6456	0.91409|0.91409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|353;345;361;401	.|A8JZZ6;B4DS50;C9J7S5;Q92685	.|.;.;.;ALG3_HUMAN	L|Y	304|345;401;353;361	.|ENSP00000402976:S345Y;ENSP00000380793:S401Y;ENSP00000402744:S353Y;ENSP00000397613:S361Y	.|ENSP00000380793:S401Y	F|S	-|-	3|2	2|0	ALG3|ALG3	185443111|185443111	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.954000|0.954000	0.61252|0.61252	9.824000|9.824000	0.99380|0.99380	2.645000|2.645000	0.89757|0.89757	0.462000|0.462000	0.41574|0.41574	TTC|TCC	-	pfam_Glycosyltransferase_ALG3		0.587	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG3	protein_coding	OTTHUMT00000346033.1	G	NM_005787	-		183960417	-1	no_errors	ENST00000397676	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183960417	G	T	183960417	3	4	78	1	0	0	0	0	1	0	0	0	520	1174	41	3	118	3	ALG3	3	183960417	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	26879191	183960417	14062013	32	4330											
PIGZ	80235	genome.wustl.edu	37	chr3	196675189	196675189	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccccacgttacatgggaGgataccagcaccagcagcca	12	14	0	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr3:196675189G>T	ENST00000412723.1	-	3	725	c.579C>A	c.(577-579)tcC>tcA	p.S193S	PIGZ_ENST00000443835.1_Missense_Mutation_p.P90H	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	193					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TTACATGGGAGGATACCAGCA	0.607																																																	0								ENSG00000119227						113	101	105					3																	196675189		2203	4300	6503	PIGZ	SO:0001819	synonymous_variant	0			-	HGNC	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.579C>A	3.37:g.196675189G>T		Somatic	0	78	0		0.572090768057978	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q9H9G6	Missense_Mutation	SNP							pfam_GPI_mannosylTrfase	p.P90H	ENST00000412723.1	37	c.269	CCDS3324.1	3	.	.	.	.	.	.	.	.	.	.	G	2.066	-0.414187	0.04766	.	.	ENSG00000119227	ENST00000443835	.	.	.	5.19	-0.0286	0.13921	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.23994	N	0.996233	.	.	.	.	.	.	T	0.35525	-0.9785	5	0.72032	D	0.01	-20.3531	0.8722	0.01217	0.2071:0.2281:0.3314:0.2334	.	.	.	.	H	90	.	ENSP00000389327:P90H	P	-	2	0	PIGZ	198159586	0.939000	0.31865	0.474000	0.27266	0.117000	0.20001	-0.067000	0.11579	-0.222000	0.09958	0.549000	0.68633	CCT	-	NULL		0.607	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGZ	protein_coding	OTTHUMT00000340486.2	G	NM_025163	-		196675189	-1	no_errors	ENST00000443835	ensembl	human	putative	74_37	missense	SNP	0.845	T	T	196675189	G	T	196675189	2	4	78	1	0	0	0	0	0	0	0	1	11907	987	35	3		3	PIGZ	3	196675189	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	12714772	196675189	1347241	33	4331											
UGDH	7358	genome.wustl.edu	37	chr4	39505572	39505584	+	Frame_Shift_Del	DEL	GCATTTTTTTATG	GCATTTTTTTATG	-													gaagataaaggctggctttaGcatttttttatgaatgcgtt					rs147122976		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	GCATTTTTTTATG	GCATTTTTTTATG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr4:39505572_39505584delGCATTTTTTTATG	ENST00000316423.6	-	11	1627_1639	c.1285_1297delCATAAAAAAATGC	c.(1285-1299)cataaaaaaatgctafs	p.HKKML429fs	UGDH_ENST00000507089.1_Frame_Shift_Del_p.HKKML332fs|UGDH_ENST00000506179.1_Frame_Shift_Del_p.HKKML429fs|UGDH_ENST00000501493.2_Frame_Shift_Del_p.HKKML362fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	429					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GCTGGCTTTAGCATTTTTTTATGAATGCGTTCA	0.455																																																	0								ENSG00000109814																																			UGDH	SO:0001589	frameshift_variant	0				HGNC	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1285_1297delCATAAAAAAATGC	4.37:g.39505572_39505584delGCATTTTTTTATG	ENSP00000319501:p.His429fs	Somatic					0.572090768057978	217	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KUU2|B4DN25|O60589	Frame_Shift_Del	DEL							pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.H429fs	ENST00000316423.6	37	c.1297_1285	CCDS3455.1	4																																																																																			-	pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_UDP-Glc/GDP-Man		0.455	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	protein_coding	OTTHUMT00000216818.3	GCATTTTTTTATG	NM_003359			39505584	-1	no_errors	ENST00000316423	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000	-	-	39505584	GCATTTTTTTATG	-	39505572	7	5	78	1	0	1	0	1	0	0	0	0	16947	962	34	0	195	0	UGDH	4	39505572	Frame_Shift_Del	DEL	GCATTTTTTTATG	TCGA-DX-A6YU-01A-12D-A33E-09		39505572	151648704	34	4332											
COPS4	51138	genome.wustl.edu	37	chr4	83966800	83966800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcgtcagatcctggaaaaAgccattcagttatctggagc	9	9	3	1	rs555889521		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr4:83966800A>G	ENST00000264389.2	+	2	231	c.96A>G	c.(94-96)aaA>aaG	p.K32K	COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Silent_p.K32K|COPS4_ENST00000503682.1_Silent_p.K32K|COPS4_ENST00000509093.1_Silent_p.K32K	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	32					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TCCTGGAAAAAGCCATTCAGT	0.343																																																	0								ENSG00000138663						105	103	104					4																	83966800		2203	4300	6503	COPS4	SO:0001819	synonymous_variant	0			-	HGNC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.96A>G	4.37:g.83966800A>G		Somatic	0	103	0		0.572090768057978	67	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP							NULL	p.K42R	ENST00000264389.2	37	c.125	CCDS3600.1	4																																																																																			-	NULL		0.343	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS4	protein_coding	OTTHUMT00000252643.1	A		-		83966800	1	no_errors	ENST00000507376	ensembl	human	known	74_37	missense	SNP	1.000	G	G	83966800	A	G	83966800	2	3	78	1	0	0	0	0	0	0	0	1	3737	69	3	5		5	COPS4	4	83966800	Silent	SNP	A	TCGA-DX-A6YU-01A-12D-A33E-09	44461228	83966800	107187476	35	4333											
TNIP3	79931	genome.wustl.edu	37	chr4	122068281	122068281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctcttgattaagtcTctctcgatccgatcgttcct	5	13	4	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr4:122068281T>C	ENST00000509841.1	-	10	967	c.889A>G	c.(889-891)Aga>Gga	p.R297G	TNIP3_ENST00000057513.3_Missense_Mutation_p.R220G|TNIP3_ENST00000454328.1_Missense_Mutation_p.R220G|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.R290G	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGATTAAGTCTCTCTCGATCC	0.378																																																	0								ENSG00000050730						220	213	215					4																	122068281		2203	4300	6503	TNIP3	SO:0001583	missense	0			-	HGNC	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.889A>G	4.37:g.122068281T>C	ENSP00000426613:p.Arg297Gly	Somatic	0	49	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24		Missense_Mutation	SNP							NULL	p.R220G	ENST00000509841.1	37	c.658	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707745	0.68615	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54	5.4	4.18	0.49190	.	0.000000	0.64402	D	0.000001	D	0.98532	0.9510	M	0.83118	2.625	0.28295	N	0.9234	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.95553	0.8622	10	0.87932	D	0	-15.1832	12.3143	0.54946	0.0:0.0:0.1417:0.8583	.	290;220	B4DVF5;Q96KP6	.;TNIP3_HUMAN	G	220;220;290;297	ENSP00000057513:R220G;ENSP00000411817:R220G;ENSP00000427106:R290G;ENSP00000426613:R297G	ENSP00000057513:R220G	R	-	1	2	TNIP3	122287731	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.497000	0.35649	0.856000	0.35383	0.460000	0.39030	AGA	-	NULL		0.378	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	protein_coding	OTTHUMT00000364000.4	T	NM_024873	-		122068281	-1	no_errors	ENST00000057513	ensembl	human	known	74_37	missense	SNP	1.000	C	C	122068281	T	C	122068281	3	2	78	1	0	0	0	0	1	0	0	0	16323	1559	54	5	339	5	TNIP3	4	122068281	Missense_Mutation	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09	38101481	122068281	69085995	36	4334											
DCLK2	166614	genome.wustl.edu	37	chr4	151000434	151000434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacggggaccgctacttcaaGggcctggtgtttgccatctc	12	12	2	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr4:151000434G>T	ENST00000296550.7	+	1	1009	c.255G>T	c.(253-255)aaG>aaT	p.K85N	DCLK2_ENST00000302176.8_Missense_Mutation_p.K85N|DCLK2_ENST00000506325.1_Missense_Mutation_p.K85N	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	85	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCTACTTCAAGGGCCTGGTGT	0.642																																					GBM(195;186 2215 13375 16801 37459)												0								ENSG00000170390						31	34	33					4																	151000434		2201	4300	6501	DCLK2	SO:0001583	missense	0			-	HGNC	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.255G>T	4.37:g.151000434G>T	ENSP00000296550:p.Lys85Asn	Somatic	0	60	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.K85N	ENST00000296550.7	37	c.255	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735309	0.48939	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.94000	-3.33;-3.33;-3.33	4.22	2.44	0.29823	Doublecortin domain (4);	0.164262	0.52532	N	0.000075	D	0.93000	0.7772	L	0.45470	1.425	0.54753	D	0.999985	B;B;D	0.53462	0.322;0.078;0.96	B;B;P	0.56916	0.297;0.087;0.809	D	0.90988	0.4833	10	0.49607	T	0.09	.	10.0333	0.42114	0.1484:0.0:0.8516:0.0	.	85;85;85	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	N	85	ENSP00000296550:K85N;ENSP00000427235:K85N;ENSP00000303887:K85N	ENSP00000296550:K85N	K	+	3	2	DCLK2	151219884	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.606000	0.36826	0.496000	0.27904	0.563000	0.77884	AAG	-	smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.642	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	protein_coding	OTTHUMT00000364952.1	G	NM_001040260	-		151000434	1	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151000434	G	T	151000434	3	4	78	1	0	0	0	0	1	0	0	0	4294	991	35	3	257	3	DCLK2	4	151000434	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	28932153	151000434	40153842	37	4335											
C5orf42	65250	genome.wustl.edu	37	chr5	37206408	37206408	+	Frame_Shift_Del	DEL	G	G	-													ccacacagcctctggaaccaGgccaccaataaatagtaatt							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr5:37206408delG	ENST00000508244.1	-	16	3133	c.3040delC	c.(3040-3042)ctgfs	p.L1014fs	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.L1014fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1014						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTGGAACCAGGCCACCAATA	0.438																																																	0								ENSG00000197603						134	114	120					5																	37206408		692	1591	2283	C5orf42	SO:0001589	frameshift_variant	0				HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3040delC	5.37:g.37206408delG	ENSP00000421690:p.Leu1014fs	Somatic	0	78	0		0.572090768057978	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.96	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Del	DEL							superfamily_Quino_amine_DH_bsu	p.L1014fs	ENST00000508244.1	37	c.3040	CCDS34146.2	5																																																																																			-	NULL		0.438	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	G	NM_023073			37206408	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	37206408	G	-	37206408	7	5	78	1	0	1	0	1	0	0	0	0	2303	991	35	0	6697	0	C5orf42	5	37206408	Frame_Shift_Del	DEL	G	TCGA-DX-A6YU-01A-12D-A33E-09		37206408	143708852	38	4336											
SNX18	112574	genome.wustl.edu	37	chr5	53815309	53815309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcgagctcttcgcggaGcagcccaggcaggacctgga	15	12	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr5:53815309G>A	ENST00000326277.3	+	1	1717	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	SNX18_ENST00000343017.6_Silent_p.E509E|SNX18_ENST00000381410.4_Silent_p.E509E	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	509	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCTTCGCGGAGCAGCCCAGGC	0.587																																																	0								ENSG00000178996						86	83	84					5																	53815309		2203	4300	6503	SNX18	SO:0001819	synonymous_variant	0			-	HGNC	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1527G>A	5.37:g.53815309G>A		Somatic	0	43	0		0.572090768057978	92	1.08	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP							pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.E509	ENST00000326277.3	37	c.1527	CCDS3962.1	5																																																																																			-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9		0.587	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	protein_coding	OTTHUMT00000214072.2	G		-		53815309	1	no_errors	ENST00000326277	ensembl	human	known	74_37	silent	SNP	1.000	A	A	53815309	G	A	53815309	2	1	78	1	0	0	0	0	0	0	0	1	14897	962	34	2		2	SNX18	5	53815309	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	16608901	53815309	127099951	39	4337											
DNAH8	1769	genome.wustl.edu	37	chr6	38998064	38998064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctatttacaagaaacccAggcgaactgatttgaccttc	7	11	0	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr6:38998064A>G	ENST00000359357.3	+	91	13623	c.13369A>G	c.(13369-13371)Agg>Ggg	p.R4457G	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4421G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4457					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGAAACCCAGGCGAACTGA	0.493																																																	0								ENSG00000124721						135	126	129					6																	38998064		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13369A>G	6.37:g.38998064A>G	ENSP00000352312:p.Arg4457Gly	Somatic	0	60	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R4457G	ENST00000359357.3	37	c.13369		6	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785421	0.31593	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08546	3.08;3.08;3.08	5.15	-1.05	0.10036	Dynein heavy chain (1);	0.053545	0.64402	D	0.000001	T	0.04815	0.0130	M	0.86178	2.8	0.23581	N	0.997363	B	0.34061	0.436	B	0.36766	0.232	T	0.33085	-0.9882	10	0.24483	T	0.36	.	10.3043	0.43672	0.4496:0.4822:0.0682:0.0	.	4457	Q96JB1	DYH8_HUMAN	G	4662;4457;4421	ENSP00000333363:R4662G;ENSP00000352312:R4457G;ENSP00000402294:R4421G	ENSP00000333363:R4662G	R	+	1	2	DNAH8	39106042	0.001000	0.12720	0.619000	0.29118	0.982000	0.71751	0.182000	0.16900	-0.026000	0.13895	0.528000	0.53228	AGG	-	pfam_Dynein_heavy_dom		0.493	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	A	NM_001206927	-		38998064	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	0.016	G	G	38998064	A	G	38998064	3	3	78	1	0	0	0	0	1	0	0	0	4609	179	7	5	13723	5	DNAH8	6	38998064	Missense_Mutation	SNP	A	TCGA-DX-A6YU-01A-12D-A33E-09		38998064	132117003	40	4338											
ROS1	6098	genome.wustl.edu	37	chr6	117662358	117662358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggagccttccaattaaaTtgcaaactagtgttctctgg	8	8	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr6:117662358T>C	ENST00000368508.3	-	30	5217	c.5019A>G	c.(5017-5019)caA>caG	p.Q1673Q	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.Q1667Q	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1673	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCAATTAAATTGCAAACTAG	0.373			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0								ENSG00000047936						113	110	111					6																	117662358		2203	4300	6503	ROS1	SO:0001819	synonymous_variant	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5019A>G	6.37:g.117662358T>C		Somatic	0	53	0		0.572090768057978	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	57	41.24	Q15368|Q5TDB5	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q1673	ENST00000368508.3	37	c.5019	CCDS5116.1	6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	T		-		117662358	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	silent	SNP	0.596	C	C	117662358	T	C	117662358	2	2	78	1	0	0	0	0	0	0	0	1	13539	1490	52	5		5	ROS1	6	117662358	Silent	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09	78664294	117662358	53452709	41	4339											
PEX7	5191	genome.wustl.edu	37	chr6	137146370	137146370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtggaaccctactaaTattggatccagatgaagctg	11	8	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr6:137146370T>C	ENST00000318471.4	+	2	230	c.149T>C	c.(148-150)aTa>aCa	p.I50T	PEX7_ENST00000367756.4_Missense_Mutation_p.I50T|PEX7_ENST00000541292.1_Missense_Mutation_p.I50T	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	50					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		ACCCTACTAATATTGGATCCA	0.368																																																	0								ENSG00000112357						129	126	127					6																	137146370		2203	4300	6503	PEX7	SO:0001583	missense	0			-	HGNC	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.149T>C	6.37:g.137146370T>C	ENSP00000315680:p.Ile50Thr	Somatic	0	124	0		0.572090768057978	13	35	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	58	30.95	C0H5X6	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I50T	ENST00000318471.4	37	c.149	CCDS5180.1	6	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373956	0.24857	.	.	ENSG00000112357	ENST00000367756;ENST00000541292;ENST00000318471	D;T;D	0.93426	-3.22;-0.57;-1.75	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.204720	0.50627	D	0.000120	D	0.88157	0.6361	M	0.68317	2.08	0.09310	N	1	B	0.21309	0.054	B	0.20767	0.031	D	0.83678	0.0170	10	0.72032	D	0.01	-17.4627	13.1423	0.59442	0.0:0.0:0.0:1.0	.	50	O00628	PEX7_HUMAN	T	50	ENSP00000356730:I50T;ENSP00000441004:I50T;ENSP00000315680:I50T	ENSP00000315680:I50T	I	+	2	0	PEX7	137188063	1.000000	0.71417	0.004000	0.12327	0.391000	0.30476	5.408000	0.66368	2.121000	0.65114	0.533000	0.62120	ATA	-	superfamily_WD40_repeat_dom		0.368	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX7	protein_coding	OTTHUMT00000042387.2	T	NM_000288	-		137146370	1	no_errors	ENST00000318471	ensembl	human	known	74_37	missense	SNP	0.015	C	C	137146370	T	C	137146370	3	2	78	1	0	0	0	0	1	0	0	0	11753	1406	49	5	155	5	PEX7	6	137146370	Missense_Mutation	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09	19484012	137146370	33968697	42	4340											
PDE10A	10846	genome.wustl.edu	37	chr6	165749697	165749697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacggcattgtagaaccCaagctgcctccatgcaaaaa	9	13	0	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr6:165749697C>A	ENST00000366882.1	-	22	2306	c.2152G>T	c.(2152-2154)Ggg>Tgg	p.G718W	PDE10A_ENST00000539869.2_Missense_Mutation_p.G728W|PDE10A_ENST00000354448.4_Missense_Mutation_p.G718W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	718					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTGTAGAACCCAAGCTGCCTC	0.458																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0								ENSG00000112541						67	64	65					6																	165749697		2203	4300	6503	PDE10A	SO:0001583	missense	0			-	HGNC	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2152G>T	6.37:g.165749697C>A	ENSP00000355847:p.Gly718Trp	Somatic	0	42	0		0.572090768057978	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G728W	ENST00000366882.1	37	c.2182		6	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791401	0.90367	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.81659	-1.52;-1.52	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91910	0.5539	10	0.87932	D	0	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	728;718	Q9ULW9;Q9Y233	.;PDE10_HUMAN	W	718;746;728;718;717	ENSP00000355847:G718W;ENSP00000346435:G718W	ENSP00000341187:G728W	G	-	1	0	PDE10A	165669687	1.000000	0.71417	0.294000	0.24946	0.916000	0.54674	7.075000	0.76798	2.681000	0.91329	0.655000	0.94253	GGG	-	pfam_PDEase_catalytic_dom		0.458	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	protein_coding	OTTHUMT00000043031.1	C		-		165749697	-1	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	SNP	0.253	A	A	165749697	C	A	165749697	3	1	78	1	0	0	0	0	1	0	0	0	11632	594	21	3	195	3	PDE10A	6	165749697	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	28603327	165749697	5365370	43	4341											
ACTB	60	genome.wustl.edu	37	chr7	5567780	5567791	+	In_Frame_Del	DEL	TTGAAGGTAGTT	TTGAAGGTAGTT	-													cgtcacacttcatgatggagTtgaaggtagtttcgtggatg					rs11546896		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	TTGAAGGTAGTT	TTGAAGGTAGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr7:5567780_5567791delTTGAAGGTAGTT	ENST00000331789.5	-	5	1019_1030	c.828_839delAACTACCTTCAA	c.(826-840)gaaactaccttcaac>gac	p.276_280ETTFN>D	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	276			T -> I (in DFNA20; dbSNP:rs28999112). {ECO:0000269|PubMed:14684684}.		adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CATGATGGAGTTGAAGGTAGTTTCGTGGATGC	0.571																																																	0								ENSG00000075624																																			ACTB	SO:0001651	inframe_deletion	0				HGNC	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.828_839delAACTACCTTCAA	7.37:g.5567780_5567791delTTGAAGGTAGTT	ENSP00000349960:p.Glu276_Asn280delinsAsp	Somatic					0.572090768057978	15816	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	In_Frame_Del	DEL							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.ETTFN276in_frame_delD	ENST00000331789.5	37	c.839_828	CCDS5341.1	7																																																																																			-	pfam_Actin-related,smart_Actin-related		0.571	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	protein_coding	OTTHUMT00000059589.4	TTGAAGGTAGTT	NM_001101			5567791	-1	no_errors	ENST00000331789	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.983:1.000:1.000:1.000	-	-	5567791	TTGAAGGTAGTT	-	5567780	7	5	78	1	0	1	0	1	0	0	0	0	193	1725	60	0	296	0	ACTB	7	5567780	In_Frame_Del	DEL	TTGAAGGTAGTT	TCGA-DX-A6YU-01A-12D-A33E-09		5567780	153570883	44	4342			2	54		2	2	15	N	TTGAAGGTAGTT_GTGGATGCCACAGGA	4.477118e-05
ACTB	60	genome.wustl.edu	37	chr7	5567794	5567808	+	In_Frame_Del	DEL	GTGGATGCCACAGGA	GTGGATGCCACAGGA	-													atggagttgaaggtagtttcGtggatgccacaggactccat					rs370842886|rs377390140|rs373362107	byFrequency	TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	GTGGATGCCACAGGA	GTGGATGCCACAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr7:5567794_5567808delGTGGATGCCACAGGA	ENST00000331789.5	-	5	1002_1016	c.811_825delTCCTGTGGCATCCAC	c.(811-825)tcctgtggcatccacdel	p.SCGIH271del	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	271					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGTAGTTTCGTGGATGCCACAGGACTCCATGCCT	0.572																																																	0								ENSG00000075624																																			ACTB	SO:0001651	inframe_deletion	0				HGNC	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.811_825delTCCTGTGGCATCCAC	7.37:g.5567794_5567808delGTGGATGCCACAGGA	ENSP00000349960:p.Ser271_His275del	Somatic					0.572090768057978	14741	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	In_Frame_Del	DEL							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.SCGIH271in_frame_del	ENST00000331789.5	37	c.825_811	CCDS5341.1	7																																																																																			-	pfam_Actin-related,smart_Actin-related		0.572	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	protein_coding	OTTHUMT00000059589.4	GTGGATGCCACAGGA	NM_001101			5567808	-1	no_errors	ENST00000331789	ensembl	human	known	74_37	in_frame_del	DEL	0.895:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	5567808	GTGGATGCCACAGGA	-	5567794	7	5	78	1	0	1	0	1	0	0	0	0	193	1136	40	0	310	0	ACTB	7	5567794	In_Frame_Del	DEL	GTGGATGCCACAGGA	TCGA-DX-A6YU-01A-12D-A33E-09	14	5567794	153570869	45	4343			2	54		2	2	15	N	TTGAAGGTAGTT_GTGGATGCCACAGGA	4.477118e-05
SUMF2	5260	genome.wustl.edu	37	chr7	56147316	56147316	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgtaagcagccgggtGgtgacaaggagaaaagcctt	16	7	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr7:56147316G>A	ENST00000297373.2	-	0	1431				SUMF2_ENST00000342190.6_Missense_Mutation_p.G277S|SUMF2_ENST00000413756.1_Silent_p.V345V|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000395435.2_3'UTR|SUMF2_ENST00000434526.2_3'UTR|SUMF2_ENST00000395436.2_3'UTR|SUMF2_ENST00000275607.9_3'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						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)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCAGCCGGGTGGTGACAAGGA	0.577											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(184;580 2064 5329 24177 35303)												0								ENSG00000129103						76	81	79					7																	56147316		2203	4300	6503	SUMF2	SO:0001628	intergenic_variant	0			-	HGNC	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56147316G>A		Somatic	0	74	0	1013	0.572090768057978	313	11.58	41	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP							pfam_FGE_dom,superfamily_C-type_lectin_fold	p.G277S	ENST00000297373.2	37	c.829	CCDS5525.1	7	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862711	0.32884	.	.	ENSG00000129103	ENST00000342190	D	0.91792	-2.91	3.8	-3.12	0.05282	.	0.590849	0.18594	N	0.136660	T	0.77671	0.4165	N	0.08118	0	0.09310	N	0.999999	B;B	0.29552	0.248;0.103	B;B	0.26202	0.067;0.058	T	0.68569	-0.5374	10	0.66056	D	0.02	-25.0441	5.4125	0.16356	0.3003:0.3314:0.3683:0.0	.	240;277	Q8NBJ7-4;F8WA42	.;.	S	277	ENSP00000341938:G277S	ENSP00000341938:G277S	G	+	1	0	SUMF2	56114810	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.318000	0.08050	-0.561000	0.06094	-0.379000	0.06801	GGT	-	NULL		0.577	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF2	protein_coding	OTTHUMT00000251587.1	G	NM_006213	-		56147316	1	no_errors	ENST00000342190	ensembl	human	known	74_37	missense	SNP	0.000	A	A	56147316	G	A	56147316	1	1	78	0	1	0	0	0	0	0	0	0	15393	1348	47	2		2	SUMF2	7	56147316	IGR	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	50579522	56147316	102991347	46	4344											
PHKG1	5260	genome.wustl.edu	37	chr7	56155339	56155339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggatgtccacctccttcaGcgtggcttctcgcagctccc	9	17	2	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr7:56155339G>T	ENST00000297373.2	-	3	408	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	PHKG1_ENST00000537360.1_Missense_Mutation_p.A36D|PHKG1_ENST00000452681.2_Missense_Mutation_p.L72M|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCTCCTTCAGCGTGGCTTCT	0.652																																					Melanoma(184;580 2064 5329 24177 35303)												0								ENSG00000164776						76	51	60					7																	56155339		2203	4300	6503	PHKG1	SO:0001583	missense	0			-	HGNC	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.214C>A	7.37:g.56155339G>T	ENSP00000297373:p.Leu72Met	Somatic	0	40	0		0.572090768057978	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma	p.L72M	ENST00000297373.2	37	c.214	CCDS5525.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.372275|1.372275	0.24857|0.24857	.|.	.|.	ENSG00000164776|ENSG00000164776	ENST00000537360|ENST00000452681;ENST00000297373	T|T;T	0.70045|0.44881	-0.45|3.13;0.91	5.42|5.42	3.52|3.52	0.40303|0.40303	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.606658	.|0.14620	.|N	.|0.308456	T|T	0.26231|0.26231	0.0640|0.0640	N|N	0.21508|0.21508	0.67|0.67	0.21675|0.21675	N|N	0.999596|0.999596	B|B;B;B	0.18166|0.19331	0.026|0.0;0.035;0.01	B|B;B;B	0.13407|0.24848	0.009|0.026;0.026;0.056	T|T	0.12268|0.12268	-1.0554|-1.0554	9|10	0.62326|0.33940	D|T	0.03|0.23	-17.4861|-17.4861	4.577|4.577	0.12238|0.12238	0.0777:0.2142:0.5106:0.1976|0.0777:0.2142:0.5106:0.1976	.|.	36|72;72;72	B7Z5U3|B7Z6U2;F5H2S1;Q16816	.|.;.;PHKG1_HUMAN	D|M	36|72	ENSP00000441528:A36D|ENSP00000445440:L72M;ENSP00000297373:L72M	ENSP00000441528:A36D|ENSP00000297373:L72M	A|L	-|-	2|1	0|2	PHKG1|PHKG1	56122833|56122833	0.063000|0.063000	0.20901|0.20901	0.991000|0.991000	0.47740|0.47740	0.721000|0.721000	0.41392|0.41392	0.443000|0.443000	0.21644|0.21644	1.439000|1.439000	0.47511|0.47511	0.563000|0.563000	0.77884|0.77884	GCT|CTG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKG1	protein_coding	OTTHUMT00000251587.1	G	NM_006213	-		56155339	-1	no_errors	ENST00000452681	ensembl	human	known	74_37	missense	SNP	0.733	T	T	56155339	G	T	56155339	3	4	78	1	0	0	0	0	1	0	0	0	11848	962	34	3	981	3	PHKG1	7	56155339	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	8023	56155339	102983324	47	4345											
ZNF425	155054	genome.wustl.edu	37	chr7	148802643	148802643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcctcttcttttgtcctgGgagttccttcgtcatctgga	8	11	4	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr7:148802643G>T	ENST00000378061.2	-	4	452	c.320C>A	c.(319-321)cCc>cAc	p.P107H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	107					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTTGTCCTGGGAGTTCCTTC	0.388																																																	0								ENSG00000204947						74	71	72					7																	148802643		2203	4300	6503	ZNF425	SO:0001583	missense	0			-	HGNC	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.320C>A	7.37:g.148802643G>T	ENSP00000367300:p.Pro107His	Somatic	0	47	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B3KPM1|Q08AG3	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.P107H	ENST00000378061.2	37	c.320	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	4.823	0.153072	0.09185	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07114	3.22;4.94	2.45	-0.284	0.12870	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46992	-0.9151	9	0.13108	T	0.6	.	2.1889	0.03893	0.4848:0.0:0.2855:0.2298	.	107	Q6IV72	ZN425_HUMAN	H	107;129	ENSP00000367300:P107H;ENSP00000420379:P129H	ENSP00000367300:P107H	P	-	2	0	ZNF425	148433576	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.132000	0.15891	-0.197000	0.10350	-1.286000	0.01371	CCC	-	NULL		0.388	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	protein_coding	OTTHUMT00000352726.1	G	XM_088140	-		148802643	-1	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	SNP	0.000	T	T	148802643	G	T	148802643	3	4	78	1	0	0	0	0	1	0	0	0	17906	1232	43	3	1942	3	ZNF425	7	148802643	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	92647304	148802643	10336020	48	4346											
IDO1	3620	genome.wustl.edu	37	chr8	39771493	39771493	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtaaagagtaccatattGatgaagaagtgggctttgct	11	5	1	4			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr8:39771493G>T	ENST00000518237.1	+	1	691	c.52G>T	c.(52-54)Gat>Tat	p.D18Y	IDO1_ENST00000522495.1_Missense_Mutation_p.D18Y|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.2_ENST00000520185.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	18					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GTACCATATTGATGAAGAAGT	0.448																																																	0								ENSG00000131203						83	83	83					8																	39771493		1924	4135	6059	IDO1	SO:0001583	missense	0			-	HGNC	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.52G>T	8.37:g.39771493G>T	ENSP00000430950:p.Asp18Tyr	Somatic	0	69	0		0.572090768057978	118	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q540B4	Missense_Mutation	SNP							pfam_Indolamine_dOase	p.D18Y	ENST00000518237.1	37	c.52	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686675	0.29962	.	.	ENSG00000131203	ENST00000518804;ENST00000519154;ENST00000522495;ENST00000522840;ENST00000518237	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.66	1.17	0.20885	.	0.358411	0.24267	N	0.040040	T	0.54532	0.1864	M	0.71871	2.18	0.27060	N	0.963574	D	0.62365	0.991	P	0.62382	0.901	T	0.47142	-0.9140	9	.	.	.	-18.2688	1.5071	0.02489	0.1792:0.1443:0.4674:0.2091	.	18	P14902	I23O1_HUMAN	Y	18	ENSP00000429297:D18Y;ENSP00000428716:D18Y;ENSP00000430505:D18Y;ENSP00000429933:D18Y;ENSP00000430950:D18Y	.	D	+	1	0	IDO1	39890650	0.999000	0.42202	0.853000	0.33588	0.035000	0.12851	0.766000	0.26560	0.407000	0.25591	-0.291000	0.09656	GAT	-	pfam_Indolamine_dOase		0.448	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	protein_coding	OTTHUMT00000376987.1	G	NM_002164	-		39771493	1	no_errors	ENST00000518237	ensembl	human	known	74_37	missense	SNP	0.504	T	T	39771493	G	T	39771493	3	4	78	1	0	0	0	0	1	0	0	0	7503	1290	45	3	54	3	IDO1	8	39771493	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		39771493	106592529	49	4347											
CHD7	55636	genome.wustl.edu	37	chr8	61769387	61769387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaggaggcggggaaggagGaaaaatgtggagggacttga	20	2	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr8:61769387G>A	ENST00000423902.2	+	34	8027	c.7548G>A	c.(7546-7548)agG>agA	p.R2516R	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2516					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGGAAGGAGGAAAAATGTGG	0.542																																																	0								ENSG00000171316						81	83	83					8																	61769387		2039	4196	6235	CHD7	SO:0001819	synonymous_variant	0			-	HGNC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7548G>A	8.37:g.61769387G>A		Somatic	0	19	0		0.572090768057978	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2516	ENST00000423902.2	37	c.7548	CCDS47865.1	8																																																																																			-	NULL		0.542	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	G	XM_098762	-		61769387	1	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	SNP	1.000	A	A	61769387	G	A	61769387	2	1	78	1	0	0	0	0	0	0	0	1	3332	1165	41	2		2	CHD7	8	61769387	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	21997894	61769387	84594635	50	4348											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110477410	110477410	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtccagtattctcacacaccGaacaaggctggctttcgctg	9	13	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr8:110477410G>T	ENST00000378402.5	+	49	8453	c.8349G>T	c.(8347-8349)ccG>ccT	p.P2783P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2783					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)			CTCACACACCGAACAAGGCTG	0.408										HNSCC(38;0.096)																																							0								ENSG00000205038						88	91	90					8																	110477410		1955	4135	6090	PKHD1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.8349G>T	8.37:g.110477410G>T		Somatic	0	41	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q567P2|Q9UF27	Silent	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.P2783	ENST00000378402.5	37	c.8349	CCDS47911.1	8																																																																																			-	NULL		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-		110477410	1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	SNP	0.032	T	T	110477410	G	T	110477410	2	4	78	1	0	0	0	0	0	0	0	1	11974	1045	37	3		3	PKHD1L1	8	110477410	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	48708023	110477410	35886612	51	4349											
BAI1	575	genome.wustl.edu	37	chr8	143570413	143570413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggccgatgaagcatccGtgtttgtggtgggcaccgtg	16	9	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr8:143570413G>A	ENST00000517894.1	+	15	3364	c.2470G>A	c.(2470-2472)Gtg>Atg	p.V824M	BAI1_ENST00000323289.5_Missense_Mutation_p.V824M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	824					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)			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)					TGAAGCATCCGTGTTTGTGGT	0.672																																																	0								ENSG00000181790						52	52	52					8																	143570413		2000	4149	6149	BAI1	SO:0001583	missense	0			-	HGNC	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.2470G>A	8.37:g.143570413G>A	ENSP00000430945:p.Val824Met	Somatic	0	86	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22		Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.V824M	ENST00000517894.1	37	c.2470		8	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575935	0.45902	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.10005	2.92;2.92	4.94	4.94	0.65067	.	0.255230	0.31566	U	0.007437	T	0.20740	0.0499	L	0.55481	1.735	0.33733	D	0.618518	D	0.71674	0.998	P	0.59703	0.862	T	0.16276	-1.0408	10	0.36615	T	0.2	.	9.317	0.37941	0.0989:0.0:0.9011:0.0	.	824	E9PBK0	.	M	824	ENSP00000430945:V824M;ENSP00000313046:V824M	ENSP00000313046:V824M	V	+	1	0	BAI1	143567415	1.000000	0.71417	0.926000	0.36857	0.265000	0.26407	3.804000	0.55568	2.269000	0.75478	0.462000	0.41574	GTG	-	pfam_DUF3497		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	G	NM_001702	-		143570413	1	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	SNP	0.997	A	A	143570413	G	A	143570413	3	1	78	1	0	0	0	0	1	0	0	0	1298	1145	40	1	2524	1	BAI1	8	143570413	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	33093003	143570413	2793609	52	4350											
PUF60	22827	genome.wustl.edu	37	chr8	144898811	144898811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatgagtctcagaggctatgGaaaactccacaaagatcttg	9	8	2	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr8:144898811G>T	ENST00000526683.1	-	12	2114	c.1559C>A	c.(1558-1560)tCc>tAc	p.S520Y	SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.S460Y|PUF60_ENST00000349157.6_Missense_Mutation_p.S503Y|PUF60_ENST00000453551.2_Missense_Mutation_p.S477Y|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.S491Y|PUF60_ENST00000527197.1_Missense_Mutation_p.S474Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	520	Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	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;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAGGCTATGGAAAACTCCAC	0.532																																																	0								ENSG00000179950						287	302	297					8																	144898811		2058	4204	6262	PUF60	SO:0001583	missense	0			-	HGNC	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1559C>A	8.37:g.144898811G>T	ENSP00000434359:p.Ser520Tyr	Somatic	0	80	0		0.572090768057978	702	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.S520Y	ENST00000526683.1	37	c.1559	CCDS47934.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002674	0.74932	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31	5.22	4.35	0.52113	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.123753	0.56097	N	0.000022	T	0.23370	0.0565	M	0.91818	3.245	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.53266	0.722;0.531	T	0.14420	-1.0473	10	0.87932	D	0	.	12.4847	0.55866	0.0809:0.0:0.9191:0.0	.	503;520	Q9UHX1-2;Q9UHX1	.;PUF60_HUMAN	Y	520;477;460;491;503;474	ENSP00000434359:S520Y;ENSP00000402953:S477Y;ENSP00000322016:S460Y;ENSP00000395417:S491Y;ENSP00000322036:S503Y;ENSP00000431960:S474Y	ENSP00000322016:S460Y	S	-	2	0	PUF60	144970799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.952000	0.93031	1.197000	0.43143	0.551000	0.68910	TCC	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.532	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	protein_coding	OTTHUMT00000382222.1	G	NM_014281	-		144898811	-1	no_errors	ENST00000526683	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144898811	G	T	144898811	3	4	78	1	0	0	0	0	1	0	0	0	12832	1174	41	3	124	3	PUF60	8	144898811	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	1328398	144898811	1465211	53	4351											
FGD3	89846	genome.wustl.edu	37	chr9	95768364	95768364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccccattcctgaagatgTacggcgagtatgtcaagaac	11	10	1	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr9:95768364T>C	ENST00000375482.3	+	6	1235	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	FGD3_ENST00000416701.2_Missense_Mutation_p.Y247H|FGD3_ENST00000337352.6_Missense_Mutation_p.Y247H	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	247	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGAAGATGTACGGCGAGTA	0.552																																																	0								ENSG00000127084						81	91	87					9																	95768364		2166	4290	6456	FGD3	SO:0001583	missense	0			-	HGNC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.739T>C	9.37:g.95768364T>C	ENSP00000364631:p.Tyr247His	Somatic	0	80	0		0.572090768057978	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	57	12.31	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.Y247H	ENST00000375482.3	37	c.739	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550359	0.86127	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.61980	0.06;0.06;0.06	4.54	4.54	0.55810	Dbl homology (DH) domain (5);	0.000000	0.34652	N	0.003786	D	0.84701	0.5530	H	0.96518	3.835	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	0.89366	0.3671	10	0.87932	D	0	.	13.4128	0.60952	0.0:0.0:0.0:1.0	.	247;247;247	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	H	247	ENSP00000364631:Y247H;ENSP00000413833:Y247H;ENSP00000336914:Y247H	ENSP00000336914:Y247H	Y	+	1	0	FGD3	94808185	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	7.506000	0.81665	2.005000	0.58758	0.533000	0.62120	TAC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.552	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	protein_coding	OTTHUMT00000055493.1	T	NM_033086	-		95768364	1	no_errors	ENST00000337352	ensembl	human	known	74_37	missense	SNP	1.000	C	C	95768364	T	C	95768364	3	2	78	1	0	0	0	0	1	0	0	0	5836	1638	57	5	753	5	FGD3	9	95768364	Missense_Mutation	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09		95768364	45445067	54	4352											
WDR34	89891	genome.wustl.edu	37	chr9	131398646	131398646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgacggctgctggggaCgcaggtctcgccggtccagg	18	14	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr9:131398646C>T	ENST00000372715.2	-	4	677	c.617G>A	c.(616-618)cGt>cAt	p.R206H	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	206			R -> C (in dbSNP:rs148543026). {ECO:0000269|PubMed:24183451}.			axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CTGCTGGGGACGCAGGTCTCG	0.677																																																	0								ENSG00000119333						59	54	56					9																	131398646		2201	4298	6499	WDR34	SO:0001583	missense	0			-	HGNC	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.617G>A	9.37:g.131398646C>T	ENSP00000361800:p.Arg206His	Somatic	0	97	0		0.572090768057978	139	29.8	59	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	55	21.43	Q5VXV4|Q9BV46	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R206H	ENST00000372715.2	37	c.617	CCDS6906.2	9	.	.	.	.	.	.	.	.	.	.	c	11.03	1.519704	0.27211	.	.	ENSG00000119333	ENST00000372715;ENST00000451652	D;T	0.85702	-2.02;-0.21	5.75	-2.36	0.06663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.699661	0.14782	N	0.298744	T	0.72787	0.3504	N	0.20986	0.625	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.56884	-0.7905	10	0.45353	T	0.12	-1.1348	11.4973	0.50415	0.0:0.3354:0.0:0.6646	.	197;89;206	A2A3F9;B4DXR8;Q96EX3	.;.;WDR34_HUMAN	H	206;197	ENSP00000361800:R206H;ENSP00000411370:R197H	ENSP00000361800:R206H	R	-	2	0	WDR34	130438467	0.883000	0.30277	0.342000	0.25602	0.044000	0.14063	1.190000	0.32126	-0.714000	0.04975	-1.163000	0.01768	CGT	-	superfamily_WD40_repeat_dom		0.677	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR34	protein_coding	OTTHUMT00000054463.1	C	NM_052844	-		131398646	-1	no_errors	ENST00000372715	ensembl	human	known	74_37	missense	SNP	0.863	T	T	131398646	C	T	131398646	3	4	78	1	0	0	0	0	1	0	0	0	17295	536	19	1	1017	1	WDR34	9	131398646	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	35630282	131398646	9814785	55	4353											
NDOR1	27158	genome.wustl.edu	37	chr9	140108673	140108673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgccctccaagttcaCcctgctgttcctccaagagg	8	17	1	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr9:140108673C>A	ENST00000344894.5	+	6	613	c.530C>A	c.(529-531)aCc>aAc	p.T177N	NDOR1_ENST00000371521.4_Missense_Mutation_p.T177N|NDOR1_ENST00000458322.2_Missense_Mutation_p.T177N|NDOR1_ENST00000427047.2_Missense_Mutation_p.T143N	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCAAGTTCACCCTGCTGTTC	0.697																																																	0								ENSG00000188566						37	30	33					9																	140108673		2203	4298	6501	NDOR1	SO:0001583	missense	0			-	HGNC	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.530C>A	9.37:g.140108673C>A	ENSP00000343344:p.Thr177Asn	Somatic	0	45	0		0.572090768057978	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Missense_Mutation	SNP							pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.T177N	ENST00000344894.5	37	c.530	CCDS7036.1	9	.	.	.	.	.	.	.	.	.	.	C	8.012	0.757682	0.15846	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.03181	4.26;4.02;4.26;4.26	4.57	0.576	0.17380	Riboflavin synthase-like beta-barrel (1);	0.403479	0.25836	N	0.027991	T	0.03434	0.0099	L	0.53249	1.67	0.24481	N	0.99435	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.002;0.003;0.001	T	0.44143	-0.9347	10	0.17832	T	0.49	-0.0332	5.2138	0.15332	0.0:0.4994:0.1655:0.3351	.	177;143;177;177	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	N	177;143;177;177	ENSP00000389905:T177N;ENSP00000394309:T143N;ENSP00000360576:T177N;ENSP00000343344:T177N	ENSP00000343344:T177N	T	+	2	0	NDOR1	139228494	0.000000	0.05858	0.945000	0.38365	0.750000	0.42670	0.370000	0.20433	0.229000	0.21039	-0.150000	0.13652	ACC	-	superfamily_Riboflavin_synthase-like_b-brl		0.697	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	protein_coding	OTTHUMT00000254704.1	C	NM_014434	-		140108673	1	no_errors	ENST00000371521	ensembl	human	known	74_37	missense	SNP	0.482	A	A	140108673	C	A	140108673	3	1	78	1	0	0	0	0	1	0	0	0	10251	507	18	3	552	3	NDOR1	9	140108673	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	8710027	140108673	1104758	56	4354											
USP6NL	9712	genome.wustl.edu	37	chr10	11505780	11505780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccgttgctcaagtgatGgacgccccaagactgaagtt	11	11	1	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr10:11505780G>T	ENST00000609104.1	-	15	1541	c.1147C>A	c.(1147-1149)Cat>Aat	p.H383N	USP6NL_ENST00000277575.5_Missense_Mutation_p.H400N|USP6NL_ENST00000379237.2_Missense_Mutation_p.H406N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	383					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTCAAGTGATGGACGCCCCAA	0.592																																																	0								ENSG00000148429						28	31	30					10																	11505780		1924	4110	6034	USP6NL	SO:0001583	missense	0			-	HGNC	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1147C>A	10.37:g.11505780G>T	ENSP00000476462:p.His383Asn	Somatic	0	78	0		0.572090768057978	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.H406N	ENST00000609104.1	37	c.1216	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408708	0.04799	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03358	3.96;3.96	5.38	-2.14	0.07123	.	0.542144	0.20128	N	0.098654	T	0.00815	0.0027	N	0.00237	-1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46133	-0.9213	10	0.02654	T	1	.	10.3781	0.44094	0.1092:0.0:0.4826:0.4082	.	383;400	Q92738;Q92738-2	US6NL_HUMAN;.	N	383;400;383	ENSP00000277575:H400N;ENSP00000368539:H383N	ENSP00000277575:H400N	H	-	1	0	USP6NL	11545786	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	0.096000	0.15147	-0.249000	0.09569	-0.467000	0.05162	CAT	-	NULL		0.592	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	protein_coding	OTTHUMT00000046764.3	G	NM_014688	-		11505780	-1	no_errors	ENST00000379237	ensembl	human	known	74_37	missense	SNP	0.133	T	T	11505780	G	T	11505780	3	4	78	1	0	0	0	0	1	0	0	0	17094	1348	47	3	1343	3	USP6NL	10	11505780	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		11505780	124028967	57	4355											
FUT11	170384	genome.wustl.edu	37	chr10	75535408	75535408	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgaaattttgggattacCtacatgaaatcttcatgaag	8	6	2	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr10:75535408C>A	ENST00000372841.3	+	3	1487	c.1444C>A	c.(1444-1446)Cta>Ata	p.L482I	RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	482					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TTGGGATTACCTACATGAAAT	0.458																																																	0								ENSG00000196968						115	102	107					10																	75535408		2203	4300	6503	FUT11	SO:0001583	missense	0			-	HGNC	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1444C>A	10.37:g.75535408C>A	ENSP00000361932:p.Leu482Ile	Somatic	0	41	0		0.572090768057978	46	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q495W7|Q8IYE4	Missense_Mutation	SNP							pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.L482I	ENST00000372841.3	37	c.1444	CCDS7333.1	10	.	.	.	.	.	.	.	.	.	.	C	7.639	0.680473	0.14907	.	.	ENSG00000196968	ENST00000372841	T	0.34072	1.38	5.8	0.932	0.19466	.	0.345569	0.32473	N	0.006054	T	0.12902	0.0313	N	0.10874	0.06	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.10428	-1.0630	10	0.11182	T	0.66	-24.444	1.3286	0.02130	0.3121:0.3832:0.1054:0.1993	.	482	Q495W5	FUT11_HUMAN	I	482	ENSP00000361932:L482I	ENSP00000361932:L482I	L	+	1	2	FUT11	75205414	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.088000	0.50175	0.257000	0.21650	0.563000	0.77884	CTA	-	pirsf_Alpha-1_3-FUT_met		0.458	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	protein_coding	OTTHUMT00000048689.1	C	NM_173540	-		75535408	1	no_errors	ENST00000372841	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75535408	C	A	75535408	3	1	78	1	0	0	0	0	1	0	0	0	6105	680	24	3	1454	3	FUT11	10	75535408	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	64029628	75535408	59999339	58	4356											
PITX3	5309	genome.wustl.edu	37	chr10	103991442	103991443	+	Frame_Shift_Del	DEL	TG	TG	-													ggaaggtcgcctctagctccTgtagctgctggctggtgaag							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr10:103991442_103991443delTG	ENST00000370002.3	-	3	376_377	c.223_224delCA	c.(223-225)cagfs	p.Q75fs	PITX3_ENST00000539804.1_Frame_Shift_Del_p.Q75fs	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	75					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	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)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCTAGCTCCTGTAGCTGCTGG	0.658																																																	0								ENSG00000107859																																			PITX3	SO:0001589	frameshift_variant	0				HGNC		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.223_224delCA	10.37:g.103991442_103991443delTG	ENSP00000359019:p.Gln75fs	Somatic	0	55	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q5VZL2	Frame_Shift_Del	DEL							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.Q75fs	ENST00000370002.3	37	c.224_223	CCDS7532.1	10																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom		0.658	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	protein_coding	OTTHUMT00000050031.1	TG				103991443	-1	no_errors	ENST00000370002	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	103991443	TG	-	103991442	7	5	78	1	0	1	0	1	0	0	0	0	11958	1580	55	0	692	0	PITX3	10	103991442	Frame_Shift_Del	DEL	TG	TCGA-DX-A6YU-01A-12D-A33E-09	28456034	103991442	31543305	59	4357											
MRGPRX4	117196	genome.wustl.edu	37	chr11	18195201	18195201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatctggtaccgctgccGccgccccacacacctgtcag	9	20	2	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:18195201G>A	ENST00000314254.3	+	1	818	c.398G>A	c.(397-399)cGc>cAc	p.R133H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TACCGCTGCCGCCGCCCCACA	0.582																																																	0								ENSG00000179817						153	148	150					11																	18195201		2199	4293	6492	MRGPRX4	SO:0001583	missense	0			-	HGNC	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.398G>A	11.37:g.18195201G>A	ENSP00000314042:p.Arg133His	Somatic	0	28	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R133H	ENST00000314254.3	37	c.398	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	G	3.009	-0.204359	0.06180	.	.	ENSG00000179817	ENST00000314254	T	0.09817	2.94	2.86	-4.82	0.03171	GPCR, rhodopsin-like superfamily (1);	0.860927	0.10112	N	0.714573	T	0.03095	0.0091	N	0.03084	-0.415	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.46400	-0.9194	10	0.07482	T	0.82	.	7.3041	0.26436	0.6394:0.0:0.3606:0.0	.	133	Q96LA9	MRGX4_HUMAN	H	133	ENSP00000314042:R133H	ENSP00000314042:R133H	R	+	2	0	MRGPRX4	18151777	0.000000	0.05858	0.449000	0.26957	0.147000	0.21601	-0.618000	0.05578	-0.630000	0.05567	-1.137000	0.01932	CGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.582	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	protein_coding	OTTHUMT00000389788.1	G	NM_054032	-		18195201	1	no_errors	ENST00000314254	ensembl	human	known	74_37	missense	SNP	0.003	A	A	18195201	G	A	18195201	3	1	78	1	0	0	0	0	1	0	0	0	9771	1087	38	1	400	1	MRGPRX4	11	18195201	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		18195201	116811315	60	4358											
LUZP2	338645	genome.wustl.edu	37	chr11	24750765	24750765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagaagtctttaaggagcGaagcaccattcttcgtcagc	10	9	3	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:24750765G>A	ENST00000336930.6	+	2	179	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	38						extracellular region (GO:0005576)				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						TTTAAGGAGCGAAGCACCATT	0.433																																																	0								ENSG00000187398						72	73	73					11																	24750765		2203	4299	6502	LUZP2	SO:0001583	missense	0			-	HGNC	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.113G>A	11.37:g.24750765G>A	ENSP00000336817:p.Arg38Gln	Somatic	0	38	0		0.572090768057978	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP							NULL	p.R38Q	ENST00000336930.6	37	c.113	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.569002	0.96540	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.27557	1.66;1.66	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52653	-0.8547	10	0.66056	D	0.02	-14.8207	17.9426	0.89030	0.0:0.0:1.0:0.0	.	38	Q86TE4	LUZP2_HUMAN	Q	38	ENSP00000336817:R38Q;ENSP00000437032:R38Q	ENSP00000336817:R38Q	R	+	2	0	LUZP2	24707341	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	8.890000	0.92477	2.843000	0.97960	0.655000	0.94253	CGA	-	NULL		0.433	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	protein_coding	OTTHUMT00000387861.1	G	NM_001009909	-		24750765	1	no_errors	ENST00000336930	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24750765	G	A	24750765	3	1	78	1	0	0	0	0	1	0	0	0	9089	1058	37	1	119	1	LUZP2	11	24750765	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	6555564	24750765	110255751	61	4359											
LRRN4CL	221091	genome.wustl.edu	37	chr11	62455864	62455864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccggcaaaggcggccaCgccgtctcagtctcatctgc	11	16	3	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:62455864C>T	ENST00000317449.4	-	2	594	c.117G>A	c.(115-117)gcG>gcA	p.A39A		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	39						integral component of membrane (GO:0016021)				cervix(1)|kidney(1)	2						AAGGCGGCCACGCCGTCTCAG	0.647																																																	0								ENSG00000177363						19	20	20					11																	62455864		2200	4288	6488	LRRN4CL	SO:0001819	synonymous_variant	0			-	HGNC	AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"Fibronectin type III domain containing"	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.117G>A	11.37:g.62455864C>T		Somatic	0	73	0		0.572090768057978	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K5L9	Silent	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A39	ENST00000317449.4	37	c.117	CCDS8030.1	11																																																																																			-	NULL		0.647	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4CL	protein_coding	OTTHUMT00000395168.1	C	NM_203422	-		62455864	-1	no_errors	ENST00000317449	ensembl	human	known	74_37	silent	SNP	0.000	T	T	62455864	C	T	62455864	2	4	78	1	0	0	0	0	0	0	0	1	9040	523	19	1		1	LRRN4CL	11	62455864	Silent	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	37705099	62455864	72550652	62	4360											
RBM4B	83759	genome.wustl.edu	37	chr11	66436591	66436591	+	Frame_Shift_Del	DEL	C	C	-													tgtaaggtgttcgaactgctCcatattgttcattatactgc							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:66436591delC	ENST00000525754.1	-	2	1252	c.584delG	c.(583-585)ggafs	p.G195fs	RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000310046.4_Frame_Shift_Del_p.G195fs|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000529195.2_5'Flank|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	195					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TCGAACTGCTCCATATTGTTC	0.498																																																	0								ENSG00000173914						134	122	126					11																	66436591		2200	4295	6495	RBM4B	SO:0001589	frameshift_variant	0				HGNC	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.584delG	11.37:g.66436591delC	ENSP00000433071:p.Gly195fs	Somatic	0	43	0		0.572090768057978	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B3KT83	Frame_Shift_Del	DEL							pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.G195fs	ENST00000525754.1	37	c.584	CCDS8149.1	11																																																																																			-	NULL		0.498	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	protein_coding	OTTHUMT00000393851.1	C	NM_031492			66436591	-1	no_errors	ENST00000310046	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	66436591	C	-	66436591	7	5	78	1	0	1	0	1	0	0	0	0	13150	855	30	0	499	0	RBM4B	11	66436591	Frame_Shift_Del	DEL	C	TCGA-DX-A6YU-01A-12D-A33E-09	3980727	66436591	68569925	63	4361											
XRRA1	254225	genome.wustl.edu	37	chr11	74554931	74554931	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatgttccggggatccCgcaagcgaatgaagatgtca	12	9	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:74554931C>A	ENST00000299563.4	+	0	7823				XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000340360.6_Missense_Mutation_p.R698L|XRRA1_ENST00000321448.8_Missense_Mutation_p.R423L|RN7SL239P_ENST00000490061.2_RNA	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CCGGGGATCCCGCAAGCGAAT	0.557																																																	0								ENSG00000166435						90	96	94					11																	74554931		1929	4127	6056	XRRA1	SO:0001628	intergenic_variant	0			-	HGNC	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74554931C>A		Somatic	0	75	0		0.572090768057978	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q6N015	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R698L	ENST00000299563.4	37	c.2093	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888160	0.91814	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.60920	0.15;0.89	5.36	4.46	0.54185	.	.	.	.	.	T	0.71126	0.3303	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.69078	0.984;0.969;0.997;0.997	P;P;P;P	0.61533	0.687;0.753;0.89;0.89	T	0.74942	-0.3492	9	0.72032	D	0.01	-9.2333	11.6626	0.51356	0.0:0.9152:0.0:0.0848	.	698;642;308;684	Q6P2D8;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.	L	698;423;684;642	ENSP00000339918:R698L;ENSP00000319303:R423L	ENSP00000319303:R423L	R	-	2	0	XRRA1	74232579	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.387000	0.44389	1.503000	0.48686	0.561000	0.74099	CGG	-	NULL		0.557	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	protein_coding	OTTHUMT00000384741.1	C	XM_495886	-		74554931	-1	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74554931	C	A	74554931	1	1	78	0	1	0	0	0	0	0	0	0	17468	652	23	3		3	XRRA1	11	74554931	IGR	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	8118340	74554931	60451585	64	4362											
PANX1	24145	genome.wustl.edu	37	chr11	93913360	93913360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagatggatgttgttgatGgcaaaactcccatgtctgca	10	8	2	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:93913360G>A	ENST00000227638.3	+	4	1523	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	PANX1_ENST00000436171.2_Missense_Mutation_p.G380S	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	380					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TGTTGTTGATGGCAAAACTCC	0.507																																																	0								ENSG00000110218						83	76	79					11																	93913360		2201	4298	6499	PANX1	SO:0001583	missense	0			-	HGNC	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.1138G>A	11.37:g.93913360G>A	ENSP00000227638:p.Gly380Ser	Somatic	0	49	0		0.572090768057978	22	33.33	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP							pfam_Innexin,pfscan_Innexin	p.G380S	ENST00000227638.3	37	c.1138	CCDS8296.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383166	0.82792	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.19806	2.13;2.12	5.42	5.42	0.78866	.	0.143817	0.64402	D	0.000006	T	0.43077	0.1231	M	0.66506	2.035	0.58432	D	0.999998	D;D	0.71674	0.997;0.998	P;D	0.65233	0.859;0.933	T	0.21965	-1.0230	10	0.52906	T	0.07	-31.4195	15.2581	0.73601	0.0:0.1406:0.8594:0.0	.	380;380	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	S	380	ENSP00000227638:G380S;ENSP00000411461:G380S	ENSP00000227638:G380S	G	+	1	0	PANX1	93553008	1.000000	0.71417	0.358000	0.25811	0.107000	0.19398	3.766000	0.55280	2.542000	0.85734	0.655000	0.94253	GGC	-	pfscan_Innexin		0.507	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	protein_coding	OTTHUMT00000396121.1	G	NM_015368	-		93913360	1	no_errors	ENST00000227638	ensembl	human	known	74_37	missense	SNP	0.999	A	A	93913360	G	A	93913360	3	1	78	1	0	0	0	0	1	0	0	0	11422	1348	47	2	1152	2	PANX1	11	93913360	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	19358429	93913360	41093156	65	4363											
DSCAML1	57453	genome.wustl.edu	37	chr11	117351251	117351251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgctccgggccttcaCctcccggatctccagctctg	9	17	4	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr11:117351251C>A	ENST00000321322.6	-	14	2873	c.2872G>T	c.(2872-2874)Gtg>Ttg	p.V958L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V688L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	898	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CGGGCCTTCACCTCCCGGATC	0.627																																																	0								ENSG00000177103						36	36	36					11																	117351251		2201	4292	6493	DSCAML1	SO:0001583	missense	0			-	HGNC		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.2872G>T	11.37:g.117351251C>A	ENSP00000315465:p.Val958Leu	Somatic	0	68	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V958L	ENST00000321322.6	37	c.2872	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340208	0.60963	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58940	0.3;0.3	4.12	4.12	0.48240	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56558	0.1993	L	0.60957	1.885	0.58432	D	0.999999	B	0.19935	0.04	B	0.26969	0.075	T	0.57219	-0.7849	9	0.39692	T	0.17	.	16.1999	0.82063	0.0:1.0:0.0:0.0	.	898	Q8TD84	DSCL1_HUMAN	L	688;958;665	ENSP00000434335:V688L;ENSP00000315465:V958L	ENSP00000315465:V958L	V	-	1	0	DSCAML1	116856461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.508000	0.81686	2.151000	0.67156	0.485000	0.47835	GTG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	C	NM_020693	-		117351251	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117351251	C	A	117351251	3	1	78	1	0	0	0	0	1	0	0	0	4771	507	18	3	3549	3	DSCAML1	11	117351251	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	23437891	117351251	17655265	66	4364											
GALNT8	26290	genome.wustl.edu	37	chr12	4881618	4881618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcccctccagggaggagCtgtcataaacagagatacca	9	12	2	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr12:4881618C>T	ENST00000252318.2	+	11	2106	c.1769C>T	c.(1768-1770)gCt>gTt	p.A590V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	590	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGGGAGGAGCTGTCATAAAC	0.527																																					Colon(108;631 1558 7270 20097 39846)												0								ENSG00000130035						90	86	87					12																	4881618		2203	4300	6503	GALNT8	SO:0001583	missense	0			-	HGNC	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1769C>T	12.37:g.4881618C>T	ENSP00000252318:p.Ala590Val	Somatic	0	93	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2RU02	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A590V	ENST00000252318.2	37	c.1769	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452966	0.43531	.	.	ENSG00000130035	ENST00000252318	T	0.27256	1.68	4.22	4.22	0.49857	Ricin B-related lectin (1);Ricin B lectin (3);	0.462508	0.21188	N	0.078685	T	0.35451	0.0932	M	0.68952	2.095	0.09310	N	1	P	0.44946	0.846	P	0.48982	0.597	T	0.13361	-1.0512	10	0.33940	T	0.23	.	11.9861	0.53149	0.0:1.0:0.0:0.0	.	590	Q9NY28	GALT8_HUMAN	V	590	ENSP00000252318:A590V	ENSP00000252318:A590V	A	+	2	0	GALNT8	4751879	0.004000	0.15560	0.008000	0.14137	0.003000	0.03518	1.564000	0.36375	2.195000	0.70347	0.650000	0.86243	GCT	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.527	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	protein_coding	OTTHUMT00000388277.2	C	NM_017417	-		4881618	1	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	SNP	0.002	T	T	4881618	C	T	4881618	3	4	78	1	0	0	0	0	1	0	0	0	6221	797	28	2	1811	2	GALNT8	12	4881618	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09		4881618	128970277	67	4365											
GRIP1	23426	genome.wustl.edu	37	chr12	66770956	66770956	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagcaggaccaaggctacctCcagttctctcagaattcctg	8	13	2	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr12:66770956C>A	ENST00000398016.3	-	20	2643	c.2575G>T	c.(2575-2577)Gag>Tag	p.E859*	GRIP1_ENST00000359742.4_Nonsense_Mutation_p.E911*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.E911*	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)			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)		AAGGCTACCTCCAGTTCTCTC	0.428																																																	0								ENSG00000155974						190	188	189					12																	66770956		1859	4096	5955	GRIP1	SO:0001587	stop_gained	0			-	HGNC	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.2575G>T	12.37:g.66770956C>A	ENSP00000381098:p.Glu859*	Somatic	0	63	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E911*	ENST00000398016.3	37	c.2731	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.774094|8.774094	0.98948|0.98948	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80037	.|0.4550	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77640	.|-0.2512	.|3	.|.	.|.	.|.	-28.1898|-28.1898	20.0833|20.0833	0.97789|0.97789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	859;911;911;859;803;751|725	.|.	.|.	E|W	-|-	1|3	0|0	GRIP1|GRIP1	65057223|65057223	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.650000|0.650000	0.38633|0.38633	7.398000|7.398000	0.79919|0.79919	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GAG|TGG	-	NULL		0.428	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	C		-		66770956	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	66770956	C	A	66770956	4	1	78	1	0	0	0	0	0	1	0	0	6789	864	30	3	675	3	GRIP1	12	66770956	Nonsense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	61889338	66770956	67080939	68	4366											
FICD	11153	genome.wustl.edu	37	chr12	108912292	108912292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcaagatggacccggacttCgtggacgcgctcaccgagtt	12	13	2	1	rs200978347		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr12:108912292C>A	ENST00000552695.1	+	3	652	c.417C>A	c.(415-417)ttC>ttA	p.F139L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	139					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						ACCCGGACTTCGTGGACGCGC	0.572																																																	0								ENSG00000198855						110	90	97					12																	108912292		2203	4300	6503	FICD	SO:0001583	missense	0			-	HGNC	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)"					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.417C>A	12.37:g.108912292C>A	ENSP00000446479:p.Phe139Leu	Somatic	0	94	0		0.572090768057978	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	O75406	Missense_Mutation	SNP							pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F139L	ENST00000552695.1	37	c.417	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140362	0.21205	.	.	ENSG00000198855	ENST00000552695	T	0.75821	-0.97	5.38	-6.12	0.02124	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.319919	0.38897	N	0.001528	T	0.52041	0.1710	L	0.38175	1.15	0.80722	D	1	B	0.20459	0.045	B	0.19148	0.024	T	0.31280	-0.9949	10	0.11794	T	0.64	-10.6867	7.9911	0.30242	0.0:0.3473:0.1826:0.4701	.	139	Q9BVA6	FICD_HUMAN	L	139	ENSP00000446479:F139L	ENSP00000446479:F139L	F	+	3	2	FICD	107436422	0.004000	0.15560	0.000000	0.03702	0.275000	0.26752	-1.227000	0.02950	-1.236000	0.02542	0.655000	0.94253	TTC	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.572	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	protein_coding	OTTHUMT00000404842.1	C	NM_007076	-		108912292	1	no_errors	ENST00000552695	ensembl	human	known	74_37	missense	SNP	0.541	A	A	108912292	C	A	108912292	3	1	78	1	0	0	0	0	1	0	0	0	5889	883	31	3	423	3	FICD	12	108912292	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	42141336	108912292	24939603	69	4367											
FLJ10357	55701	genome.wustl.edu	37	chr14	21542353	21542353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctacaaggcatcaacaAggaccggccaacaggtcgcc	12	13	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr14:21542353A>G	ENST00000298694.4	+	3	591	c.464A>G	c.(463-465)aAg>aGg	p.K155R	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.K155R			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	155						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGCATCAACAAGGACCGGCCA	0.607																																																	0								ENSG00000165801						58	62	61					14																	21542353		2203	4300	6503	ARHGEF40	SO:0001583	missense	0			-	HGNC		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.464A>G	14.37:g.21542353A>G	ENSP00000298694:p.Lys155Arg	Somatic	0	53	0		0.572090768057978	62	24.39	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K155R	ENST00000298694.4	37	c.464	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423755	0.43020	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02498	4.33;4.27	4.76	4.76	0.60689	.	0.000000	0.52532	D	0.000080	T	0.02888	0.0086	L	0.31065	0.9	0.32608	N	0.525002	B;P	0.42518	0.296;0.782	B;B	0.40677	0.154;0.337	T	0.45220	-0.9276	10	0.15499	T	0.54	.	12.2726	0.54714	1.0:0.0:0.0:0.0	.	155;155	Q8TER5;G3V3N2	ARH40_HUMAN;.	R	155	ENSP00000298694:K155R;ENSP00000298693:K155R	ENSP00000298693:K155R	K	+	2	0	ARHGEF40	20612193	0.904000	0.30761	1.000000	0.80357	0.991000	0.79684	1.964000	0.40462	1.991000	0.58162	0.459000	0.35465	AAG	-	NULL		0.607	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	protein_coding	OTTHUMT00000413122.1	A		-		21542353	1	no_errors	ENST00000298694	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21542353	A	G	21542353	3	3	78	1	0	0	0	0	1	0	0	0	5928	72	3	5	474	5	FLJ10357	14	21542353	Missense_Mutation	SNP	A	TCGA-DX-A6YU-01A-12D-A33E-09		21542353	85807187	70	4368											
RTL1	388015	genome.wustl.edu	37	chr14	101350508	101350508	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattctctgcgatcgccagaGaagtgctttggggcgggcag	15	9	1	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr14:101350508G>A	ENST00000534062.1	-	1	676	c.618C>T	c.(616-618)ttC>ttT	p.F206F	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	206					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATCGCCAGAGAAGTGCTTTG	0.493																																																	0								ENSG00000254656						108	89	95					14																	101350508		692	1591	2283	RTL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.618C>T	14.37:g.101350508G>A		Somatic	0	41	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	6	64.71	E9PKS8	Silent	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.F206	ENST00000534062.1	37	c.618	CCDS53910.1	14																																																																																			-	NULL		0.493	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	G	NM_001134888	-		101350508	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	silent	SNP	0.694	A	A	101350508	G	A	101350508	2	1	78	1	0	0	0	0	0	0	0	1	13732	933	33	2		2	RTL1	14	101350508	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	79808155	101350508	5999032	71	4369											
TECPR2	9895	genome.wustl.edu	37	chr14	102904421	102904421	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctcagcttggtggtctcCgagaagtatatctggtgcct	11	10	3	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr14:102904421C>A	ENST00000359520.7	+	10	2683	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	TECPR2_ENST00000558678.1_Silent_p.S819S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	819					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGTGGTCTCCGAGAAGTATA	0.587											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000196663						143	146	145					14																	102904421		2203	4300	6503	TECPR2	SO:0001819	synonymous_variant	0			-	HGNC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2457C>A	14.37:g.102904421C>A		Somatic	0	47	0	1370	0.572090768057978	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP							pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.S819	ENST00000359520.7	37	c.2457	CCDS32162.1	14																																																																																			-	NULL		0.587	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	protein_coding	OTTHUMT00000415056.2	C	NM_014844	-		102904421	1	no_errors	ENST00000359520	ensembl	human	known	74_37	silent	SNP	0.019	A	A	102904421	C	A	102904421	2	1	78	1	0	0	0	0	0	0	0	1	15751	639	23	3		3	TECPR2	14	102904421	Silent	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	1553913	102904421	4445119	72	4370											
FURIN	5045	genome.wustl.edu	37	chr15	91421487	91421489	+	In_Frame_Del	DEL	GGG	GGG	-													atgacggcaagacagtggatGggccagcccgcctcgccgag							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	GGG	GGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr15:91421487_91421489delGGG	ENST00000268171.3	+	8	1072_1074	c.793_795delGGG	c.(793-795)gggdel	p.G265del		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	265	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GACAGTGGATGGGCCAGCCCGCC	0.655																																																	0								ENSG00000140564																																			FURIN	SO:0001651	inframe_deletion	0				HGNC	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.793_795delGGG	15.37:g.91421487_91421489delGGG	ENSP00000268171:p.Gly265del	Somatic	0	125	0		0.572090768057978	63	18.18	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	Q14336|Q6LBS3|Q9UCZ5	In_Frame_Del	DEL							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.G265in_frame_del	ENST00000268171.3	37	c.793_795	CCDS10364.1	15																																																																																			-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.655	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	protein_coding	OTTHUMT00000313492.1	GGG	NM_002569			91421489	1	no_errors	ENST00000268171	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.996	-	-	91421489	GGG	-	91421487	7	5	78	1	0	1	0	1	0	0	0	0	6101	1348	47	0	819	0	FURIN	15	91421487	In_Frame_Del	DEL	GGG	TCGA-DX-A6YU-01A-12D-A33E-09		91421487	11109905	73	4371											
WDR24	84219	genome.wustl.edu	37	chr16	739189	739189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacagagtcctttctgCggaggtcaaagcacttcatg	11	10	3	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr16:739189C>A	ENST00000248142.6	-	3	637	c.638G>T	c.(637-639)cGc>cTc	p.R213L	WDR24_ENST00000293883.4_Missense_Mutation_p.R151L|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	213										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTCCTTTCTGCGGAGGTCAAA	0.612																																																	0								ENSG00000127580						75	71	72					16																	739189		2200	4300	6500	WDR24	SO:0001583	missense	0			-	HGNC	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.638G>T	16.37:g.739189C>A	ENSP00000248142:p.Arg213Leu	Somatic	0	54	0		0.572090768057978	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R213L	ENST00000248142.6	37	c.638		16	.	.	.	.	.	.	.	.	.	.	c	20.3	3.959586	0.74016	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.33216	1.42;1.42	5.14	5.14	0.70334	.	0.117336	0.64402	D	0.000012	T	0.64940	0.2644	M	0.92169	3.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.70128	-0.4957	10	0.33141	T	0.24	-13.9453	17.5824	0.87972	0.0:1.0:0.0:0.0	.	151	Q96S15-2	.	L	213;151	ENSP00000248142:R213L;ENSP00000293883:R151L	ENSP00000248142:R213L	R	-	2	0	WDR24	679190	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.218000	0.77991	2.391000	0.81399	0.561000	0.74099	CGC	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.612	WDR24-201	KNOWN	basic	protein_coding	WDR24	protein_coding		C	NM_032259	-		739189	-1	no_errors	ENST00000248142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	739189	C	A	739189	3	1	78	1	0	0	0	0	1	0	0	0	17288	768	27	3	1956	3	WDR24	16	739189	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09		739189	89615564	74	4372											
TRAF7	84231	genome.wustl.edu	37	chr16	2220714	2220716	+	In_Frame_Del	DEL	GAG	GAG	-													gctccacattctcactgcccGaggaggaggaggagccggta							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr16:2220714_2220716delGAG	ENST00000326181.6	+	5	463_465	c.331_333delGAG	c.(331-333)gagdel	p.E115del		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	115					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CTCACTGCCCGAGGAGGAGGAGG	0.69																																																	0								ENSG00000131653																																			TRAF7	SO:0001651	inframe_deletion	0				HGNC	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.331_333delGAG	16.37:g.2220723_2220725delGAG	ENSP00000318944:p.Glu115del	Somatic	0	34	0		0.572090768057978	98	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q9H073	In_Frame_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E114in_frame_del	ENST00000326181.6	37	c.331_333	CCDS10461.1	16																																																																																			-	NULL		0.69	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	protein_coding	OTTHUMT00000250762.1	GAG	NM_032271			2220716	1	no_errors	ENST00000326181	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	2220716	GAG	-	2220714	7	5	78	1	0	1	0	1	0	0	0	0	16453	1059	37	0	345	0	TRAF7	16	2220714	In_Frame_Del	DEL	GAG	TCGA-DX-A6YU-01A-12D-A33E-09	1481525	2220714	88134039	75	4373											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53675388	53675388	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgttaactcaaatattcCtgtcaaattacaataatttt	3	7	3	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr16:53675388C>A	ENST00000379925.3	-	18	2734		c.e18-1		RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site|RPGRIP1L_ENST00000262135.4_Splice_Site	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like						camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCAAATATTCCTGTCAAATTA	0.333																																																	0								ENSG00000103494						75	71	72					16																	53675388		2198	4300	6498	RPGRIP1L	SO:0001630	splice_region_variant	0			-	HGNC		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2684-1G>T	16.37:g.53675388C>A		Somatic	0	44	0		0.572090768057978	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	A0PJ88|Q9Y2K8	Splice_Site	SNP							-	e17-1	ENST00000379925.3	37	c.2684-1	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702697	0.68501	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7732	0.85544	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPGRIP1L	52232889	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.369000	0.66138	2.537000	0.85549	0.591000	0.81541	.	-	-		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	protein_coding	OTTHUMT00000422187.1	C	NM_015272	-	Intron	53675388	-1	no_errors	ENST00000379925	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	53675388	C	A	53675388	5	1	78	1	0	0	0	0	0	0	1	0	13558	695	24	3	1304	3	RPGRIP1L	16	53675388	Splice_Site	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	51454674	53675388	36679365	76	4374											
MMP2	4313	genome.wustl.edu	37	chr16	55518075	55518075	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatcaactttggccgctgGggtaggcagaagatggggca	16	7	1	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr16:55518075G>T	ENST00000219070.4	+	3	1037	c.528G>T	c.(526-528)tgG>tgT	p.W176C	MMP2_ENST00000570308.1_Splice_Site_p.W100C|MMP2_ENST00000543485.1_Splice_Site_p.W100C|MMP2_ENST00000437642.2_Splice_Site_p.W126C	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	176	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TTGGCCGCTGGGGTAGGCAGA	0.582																																																	0								ENSG00000087245						59	50	53					16																	55518075		2198	4300	6498	MMP2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.529+1G>T	16.37:g.55518075G>T		Somatic	0	64	0		0.572090768057978	1235	0.08	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.W176C	ENST00000219070.4	37	c.528	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238185	0.58886	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.20598	2.06;2.06;2.06	4.72	4.72	0.59763	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.163679	0.56097	D	0.000027	T	0.27384	0.0672	N	0.12182	0.205	0.80722	D	1	D;D	0.76494	0.987;0.999	B;P	0.61397	0.42;0.888	T	0.24476	-1.0159	10	0.56958	D	0.05	.	18.0532	0.89356	0.0:0.0:1.0:0.0	.	126;176	E9PE45;P08253	.;MMP2_HUMAN	C	176;100;126	ENSP00000219070:W176C;ENSP00000444143:W100C;ENSP00000394237:W126C	ENSP00000219070:W176C	W	+	3	0	MMP2	54075576	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.209000	0.51122	2.346000	0.79739	0.455000	0.32223	TGG	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	protein_coding	OTTHUMT00000256913.3	G		-	Missense_Mutation	55518075	1	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55518075	G	T	55518075	5	4	78	1	0	0	0	0	0	0	1	0	9660	1246	43	3	545	3	MMP2	16	55518075	Splice_Site	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	1842687	55518075	34836678	77	4375											
ZNF821	55565	genome.wustl.edu	37	chr16	71898846	71898846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccaacaggctgttctGtattttctaactctttctcc	4	14	4	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr16:71898846G>T	ENST00000565601.1	-	4	679	c.272C>A	c.(271-273)aCa>aAa	p.T91K	ZNF821_ENST00000313565.6_Missense_Mutation_p.T49K|ZNF821_ENST00000564943.1_Intron|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000425432.1_Missense_Mutation_p.T91K|ZNF821_ENST00000564134.1_Missense_Mutation_p.T91K|ZNF821_ENST00000446827.2_Missense_Mutation_p.T49K	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	91					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(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						AGGCTGTTCTGTATTTTCTAA	0.537																																																	0								ENSG00000102984						314	215	248					16																	71898846		2198	4300	6498	ZNF821	SO:0001583	missense	0			-	HGNC	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.272C>A	16.37:g.71898846G>T	ENSP00000455648:p.Thr91Lys	Somatic	0	76	0		0.572090768057978	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T91K	ENST00000565601.1	37	c.272	CCDS56006.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713701	0.30413	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01279	6.66;5.06;5.06	5.92	4.97	0.65823	.	0.688787	0.15037	N	0.284137	T	0.01222	0.0040	N	0.08118	0	0.24283	N	0.9952	B;B	0.14438	0.01;0.003	B;B	0.14023	0.007;0.01	T	0.51560	-0.8690	10	0.28530	T	0.3	-0.6077	14.364	0.66792	0.0708:0.0:0.9292:0.0	.	91;49	B4DKK4;O75541-2	.;.	K	91;49;49	ENSP00000398089:T91K;ENSP00000313822:T49K;ENSP00000405908:T49K	ENSP00000313822:T49K	T	-	2	0	ZNF821	70456347	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.581000	0.53914	1.520000	0.48965	0.655000	0.94253	ACA	-	NULL		0.537	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	protein_coding	OTTHUMT00000434180.1	G	NM_017530	-		71898846	-1	no_errors	ENST00000425432	ensembl	human	known	74_37	missense	SNP	0.995	T	T	71898846	G	T	71898846	3	4	78	1	0	0	0	0	1	0	0	0	18185	1377	48	3	982	3	ZNF821	16	71898846	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	16380771	71898846	18455907	78	4376											
OR1D2	4991	genome.wustl.edu	37	chr17	2996238	2996238	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgctgctcaggactctctGacatccccaggagaaggaac	11	13	2	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr17:2996238G>T	ENST00000331459.1	-	1	52	c.53C>A	c.(52-54)tCa>tAa	p.S18*		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	18					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGGACTCTCTGACATCCCCAG	0.493																																																	0								ENSG00000184166						93	88	90					17																	2996238		2203	4300	6503	OR1D2	SO:0001587	stop_gained	0			-	HGNC	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.53C>A	17.37:g.2996238G>T	ENSP00000327585:p.Ser18*	Somatic	0	49	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q6IFL8|Q96RA4|Q9UM78	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S18*	ENST00000331459.1	37	c.53	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701406	0.68501	.	.	ENSG00000184166	ENST00000331459	.	.	.	3.42	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7505	0.28894	0.121:0.0:0.8789:0.0	.	.	.	.	X	18	.	ENSP00000327585:S18X	S	-	2	0	OR1D2	2942988	0.008000	0.16893	0.004000	0.12327	0.282000	0.26991	1.566000	0.36396	1.723000	0.51488	0.543000	0.68304	TCA	-	NULL		0.493	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	protein_coding	OTTHUMT00000207207.1	G	NM_002548	-		2996238	-1	no_errors	ENST00000331459	ensembl	human	known	74_37	nonsense	SNP	0.012	T	T	2996238	G	T	2996238	4	4	78	1	0	0	0	0	0	1	0	0	10955	1294	45	3	888	3	OR1D2	17	2996238	Nonsense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		2996238	78198972	79	4377											
TP53	7157	genome.wustl.edu	37	chr17	7578553	7578553	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttgagggcaggggagTactgtaggaagaggaaggag	19	3	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr17:7578553T>C	ENST00000269305.4	-	5	566	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	TP53_ENST00000445888.2_Splice_Site_p.Y126C|TP53_ENST00000420246.2_Splice_Site_p.Y126C|TP53_ENST00000455263.2_Splice_Site_p.Y126C|TP53_ENST00000413465.2_Splice_Site_p.Y126C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.Y126C	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(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)	GGCAGGGGAGTACTGTAGGAA	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|liver(1)						ENSG00000141510						43	43	43					17																	7578553		2203	4300	6503	TP53	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;	-	HGNC	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.376-1A>G	17.37:g.7578553T>C		Somatic	0	23	0		0.572090768057978	49	66.45	101	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	4	50.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y126C	ENST00000269305.4	37	c.377	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320083	0.81469	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.48	5.48	0.80851	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	0.99869	0.9938	M	0.90483	3.12	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	0.999;1.0;1.0;0.989;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126C;ENSP00000352610:Y126C;ENSP00000269305:Y126C;ENSP00000398846:Y126C;ENSP00000391127:Y126C;ENSP00000391478:Y126C;ENSP00000423862:Y33C;ENSP00000424104:Y126C;ENSP00000426252:Y126C	ENSP00000269305:Y126C	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-	Missense_Mutation	7578553	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7578553	T	C	7578553	5	2	78	1	0	0	0	0	0	0	1	0	16388	1652	57	5	921	5	TP53	17	7578553	Splice_Site	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09	4582315	7578553	73616657	80	4378											
NF1	4763	genome.wustl.edu	37	chr17	29663696	29663696	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattgacaagacatgcttatCtccaactcctactttagaac	4	11	1	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr17:29663696C>A	ENST00000358273.4	+	42	6574	c.6191C>A	c.(6190-6192)tCt>tAt	p.S2064Y	NF1_ENST00000356175.3_Missense_Mutation_p.S2043Y|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2064					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.?(3)	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)		ACATGCTTATCTCCAACTCCT	0.348			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000196712						127	103	111					17																	29663696		2203	4300	6503	NF1	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.6191C>A	17.37:g.29663696C>A	ENSP00000351015:p.Ser2064Tyr	Somatic	0	62	0		0.572090768057978	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S2064Y	ENST00000358273.4	37	c.6191	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316500	0.81469	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.11169	2.96;3.11;2.8	5.63	5.63	0.86233	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.63428	1.95	0.80722	D	1	D;D	0.64830	0.994;0.989	D;P	0.77004	0.989;0.885	T	0.00909	-1.1518	10	0.87932	D	0	.	20.0345	0.97552	0.0:1.0:0.0:0.0	.	2043;2064	P21359-2;P21359	.;NF1_HUMAN	Y	2064;2043;1709	ENSP00000351015:S2064Y;ENSP00000348498:S2043Y;ENSP00000389907:S1709Y	ENSP00000348498:S2043Y	S	+	2	0	NF1	26687822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.334000	0.79224	2.797000	0.96272	0.655000	0.94253	TCT	-	superfamily_ARM-type_fold		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	-		29663696	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29663696	C	A	29663696	3	1	78	1	0	0	0	0	1	0	0	0	10358	913	32	3	6418	3	NF1	17	29663696	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	22085143	29663696	51531514	81	4379											
CCL2	6347	genome.wustl.edu	37	chr17	32583311	32583311	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atctcagtgcagaggctcgcGagctatagaagaatcaccag	11	10	2	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr17:32583311G>T	ENST00000225831.4	+	2	212	c.147G>T	c.(145-147)gcG>gcT	p.A49A	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_Silent_p.A49A	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	49					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	AGAGGCTCGCGAGCTATAGAA	0.463																																																	0								ENSG00000108691						80	80	80					17																	32583311		2203	4300	6503	CCL2	SO:0001819	synonymous_variant	0			-	HGNC	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"Chemokine ligands", "Endogenous ligands"	10618	protein-coding gene	gene with protein product	"monocyte chemotactic protein 1, homologous to mouse Sig-je", "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2"	158105	"small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.147G>T	17.37:g.32583311G>T		Somatic	0	39	0		0.572090768057978	143	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2R4V3|Q9UDF3	Silent	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.A49	ENST00000225831.4	37	c.147	CCDS11277.1	17																																																																																			-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.463	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL2	protein_coding	OTTHUMT00000256384.2	G	NM_002982	-		32583311	1	no_errors	ENST00000225831	ensembl	human	known	74_37	silent	SNP	0.136	T	T	32583311	G	T	32583311	2	4	78	1	0	0	0	0	0	0	0	1	2893	1045	37	3		3	CCL2	17	32583311	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	2919615	32583311	48611899	82	4380											
GRIN2C	2905	genome.wustl.edu	37	chr17	72838591	72838591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactcacacttctgactccaGactggagatccgtctccagg	8	14	3	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr17:72838591G>A	ENST00000293190.5	-	13	3831	c.3685C>T	c.(3685-3687)Ctg>Ttg	p.L1229L		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1229					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|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)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGACTCCAGACTGGAGATC	0.602																																																	0								ENSG00000161509						28	26	27					17																	72838591		2203	4300	6503	GRIN2C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3685C>T	17.37:g.72838591G>A		Somatic	0	88	0		0.572090768057978	9	10	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	31	44.64	B2RTT1	Silent	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L1229	ENST00000293190.5	37	c.3685	CCDS32724.1	17																																																																																			-	NULL		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	protein_coding	OTTHUMT00000103824.1	G		-		72838591	-1	no_errors	ENST00000293190	ensembl	human	known	74_37	silent	SNP	0.998	A	A	72838591	G	A	72838591	2	1	78	1	0	0	0	0	0	0	0	1	6783	933	33	2		2	GRIN2C	17	72838591	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	40255280	72838591	8356619	83	4381											
RNF213	57674	genome.wustl.edu	37	chr17	78264516	78264516	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagcaatatctgtgagctGcactacaccaggtgagcgtg	12	10	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr17:78264516G>T	ENST00000582970.1	+	7	1403	c.1260G>T	c.(1258-1260)ctG>ctT	p.L420L	RNF213_ENST00000508628.2_Silent_p.L469L|RNF213_ENST00000319921.4_Silent_p.L420L|RNF213_ENST00000456466.1_Silent_p.L420L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	420					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)			TCTGTGAGCTGCACTACACCA	0.458																																																	0								ENSG00000173821						97	70	79					17																	78264516		2203	4300	6503	RNF213	SO:0001819	synonymous_variant	0			-	HGNC	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.1260G>T	17.37:g.78264516G>T		Somatic	0	71	0		0.572090768057978	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L420	ENST00000582970.1	37	c.1260	CCDS58606.1	17																																																																																			-	NULL		0.458	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914	-		78264516	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	SNP	0.870	T	T	78264516	G	T	78264516	2	4	78	1	0	0	0	0	0	0	0	1	13485	1306	46	3		3	RNF213	17	78264516	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	5425925	78264516	2930694	84	4382											
LAMA3	3909	genome.wustl.edu	37	chr18	21441699	21441699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacagtatggtggcGgatctccaggagctgcccgc	15	12	1	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr18:21441699G>A	ENST00000313654.9	+	35	4753	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	LAMA3_ENST00000399516.3_Silent_p.A1504A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1504	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)					GTATGGTGGCGGATCTCCAGG	0.587																																																	0								ENSG00000053747						42	45	44					18																	21441699		2033	4192	6225	LAMA3	SO:0001819	synonymous_variant	0			-	HGNC	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.4512G>A	18.37:g.21441699G>A		Somatic	0	29	0		0.572090768057978	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.A1504	ENST00000313654.9	37	c.4512	CCDS42419.1	18																																																																																			-	superfamily_Growth_fac_rcpt_N_dom,pfscan_Laminin_B_type_IV		0.587	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129	-		21441699	1	no_errors	ENST00000313654	ensembl	human	known	74_37	silent	SNP	0.001	A	A	21441699	G	A	21441699	2	1	78	1	0	0	0	0	0	0	0	1	8609	1103	39	1		1	LAMA3	18	21441699	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		21441699	56635549	85	4383											
CNDP1	84735	genome.wustl.edu	37	chr18	72238471	72238471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacctttggtggcatcctTcatgaaccaatggctgatct	10	10	2	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr18:72238471T>C	ENST00000358821.3	+	7	1035	c.807T>C	c.(805-807)ctT>ctC	p.L269L	CNDP1_ENST00000582365.1_Silent_p.L226L	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	269						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GTGGCATCCTTCATGAACCAA	0.413																																					Melanoma(32;1029 1042 25286 38395 44237)												0								ENSG00000150656						239	205	217					18																	72238471		2203	4300	6503	CNDP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.807T>C	18.37:g.72238471T>C		Somatic	0	43	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP							pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.L269	ENST00000358821.3	37	c.807	CCDS12007.1	18																																																																																			-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1		0.413	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	protein_coding	OTTHUMT00000256326.1	T	NM_032649	-		72238471	1	no_errors	ENST00000358821	ensembl	human	known	74_37	silent	SNP	0.000	C	C	72238471	T	C	72238471	2	2	78	1	0	0	0	0	0	0	0	1	3595	1770	62	5		5	CNDP1	18	72238471	Silent	SNP	T	TCGA-DX-A6YU-01A-12D-A33E-09	50796772	72238471	5838777	86	4384											
COL5A3	50509	genome.wustl.edu	37	chr19	10104349	10104349	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgaagccacgatcaccCtgtccagagacaccagtgag	9	15	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr19:10104349C>A	ENST00000264828.3	-	18	1727		c.e18-1		CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						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)	p.?(1)		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)			CACGATCACCCTGTCCAGAGA	0.597																																																	1	Unknown(1)	breast(1)						ENSG00000080573						171	143	152					19																	10104349		2203	4300	6503	COL5A3	SO:0001630	splice_region_variant	0			-	HGNC	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.1642-1G>T	19.37:g.10104349C>A		Somatic	0	92	0		0.572090768057978	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	Q9NZQ6	Splice_Site	SNP							-	e18-1	ENST00000264828.3	37	c.1642-1	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409124	0.83340	.	.	ENSG00000080573	ENST00000264828	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0482	0.86510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A3	9965349	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.676000	0.74498	2.634000	0.89283	0.563000	0.77884	.	-	-		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719	-	Intron	10104349	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	10104349	C	A	10104349	5	1	78	1	0	0	0	0	0	0	1	0	3700	695	24	3	3796	3	COL5A3	19	10104349	Splice_Site	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09		10104349	49024634	87	4385											
CYP4F11	57834	genome.wustl.edu	37	chr19	16034882	16034882	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagatggcggcaatatattCactgggcttcctgcatgaag	11	9	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr19:16034882C>A	ENST00000402119.4	-	6	1084	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CYP4F11_ENST00000326742.8_Nonsense_Mutation_p.E220*|CYP4F11_ENST00000248041.8_Nonsense_Mutation_p.E220*|CYP4F11_ENST00000591841.1_5'UTR	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCAATATATTCACTGGGCTTC	0.473																																																	0								ENSG00000171903						84	82	83					19																	16034882		2203	4300	6503	CYP4F11	SO:0001587	stop_gained	0			-	HGNC	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.658G>T	19.37:g.16034882C>A	ENSP00000384588:p.Glu220*	Somatic	0	52	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		Nonsense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E220*	ENST00000402119.4	37	c.658	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	c	15.18	2.757853	0.49468	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	.	.	.	2.52	-2.04	0.07343	.	0.652316	0.12737	U	0.443324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	2.5673	0.04786	0.1791:0.5159:0.1771:0.1279	.	.	.	.	X	220	.	ENSP00000248041:E220X	E	-	1	0	CYP4F11	15895882	0.026000	0.19158	0.306000	0.25113	0.083000	0.17756	0.519000	0.22862	-0.039000	0.13602	-0.680000	0.03767	GAA	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.473	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	protein_coding	OTTHUMT00000460385.2	C	NM_021187	-		16034882	-1	no_errors	ENST00000248041	ensembl	human	known	74_37	nonsense	SNP	0.547	A	A	16034882	C	A	16034882	4	1	78	1	0	0	0	0	0	1	0	0	4188	835	29	3	944	3	CYP4F11	19	16034882	Nonsense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	5930533	16034882	43094101	88	4386											
CILP2	148113	genome.wustl.edu	37	chr19	19654128	19654128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagctgcggggactgcGcccagaccaggctggcatct	15	14	1	1	rs201485988		TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr19:19654128G>A	ENST00000291495.5	+	7	1134	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	CILP2_ENST00000586018.1_Missense_Mutation_p.R356H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	350	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				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						CGGGGACTGCGCCCAGACCAG	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		16543	0		0	False		,,,				2504	0																0								ENSG00000160161	G	HIS/ARG	0,4406		0,0,2203	49	52	51		1049	-7.8	0	19		51	1,8597	1.2+/-3.3	0,1,4298	no	missense	CILP2	NM_153221.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	350/1157	19654128	1,13003	2203	4299	6502	CILP2	SO:0001583	missense	0			GMAF=0	HGNC	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.1049G>A	19.37:g.19654128G>A	ENSP00000291495:p.Arg350His	Somatic	0	100	0		0.572090768057978	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R350H	ENST00000291495.5	37	c.1049	CCDS12405.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.28	1.307532	0.23821	0.0	1.16E-4	ENSG00000160161	ENST00000291495	T	0.12255	2.7	4.79	-7.81	0.01210	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.626322	0.17411	N	0.175199	T	0.08626	0.0214	L	0.35542	1.07	0.09310	N	1	B;B	0.20052	0.041;0.041	B;B	0.21546	0.035;0.035	T	0.19516	-1.0303	10	0.36615	T	0.2	-11.0386	13.277	0.60191	0.6344:0.0:0.3656:0.0	.	350;350	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	350	ENSP00000291495:R350H	ENSP00000291495:R350H	R	+	2	0	CILP2	19515128	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.168000	0.09925	-1.031000	0.03308	-0.489000	0.04712	CGC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.647	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	G	NM_153221	rs201485988		19654128	1	no_errors	ENST00000291495	ensembl	human	known	74_37	missense	SNP	0.000	A	A	19654128	G	A	19654128	3	1	78	1	0	0	0	0	1	0	0	0	3432	1087	38	1	1075	1	CILP2	19	19654128	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	3619246	19654128	39474855	89	4387											
ZNF208	7757	genome.wustl.edu	37	chr19	22156134	22156134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattttcttatgataactaaGggttgaggaccacttatagg	9	5	1	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr19:22156134G>T	ENST00000397126.4	-	4	1850	c.1702C>A	c.(1702-1704)Ctt>Att	p.L568I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGAC	0.348																																																	0								ENSG00000160321						24	24	24					19																	22156134		1927	4105	6032	ZNF208	SO:0001583	missense	0			-	HGNC	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1702C>A	19.37:g.22156134G>T	ENSP00000380315:p.Leu568Ile	Somatic	0	36	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L568I	ENST00000397126.4	37	c.1702	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.352251	0.24512	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.53857	0.6	2.82	-0.969	0.10310	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62405	0.2425	.	.	.	0.09310	N	1	D	0.56287	0.975	D	0.68192	0.956	T	0.52902	-0.8513	8	0.66056	D	0.02	.	3.8868	0.09102	0.2071:0.0:0.4802:0.3127	.	468	O43345	ZN208_HUMAN	I	568;468	ENSP00000380315:L568I	ENSP00000380315:L568I	L	-	1	0	ZNF208	21947974	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.203000	0.17315	-0.694000	0.05113	-2.649000	0.00149	CTT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	G	NM_007153	-		22156134	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	SNP	0.003	T	T	22156134	G	T	22156134	3	4	78	1	0	0	0	0	1	0	0	0	17773	1000	35	3	2144	3	ZNF208	19	22156134	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	2502006	22156134	36972849	90	4388											
KLK8	11202	genome.wustl.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	14	10	0	2	rs56296296	byFrequency	TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000320838.5_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000593490.1_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000129455	C	ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	174	161	165		721,856,298,	3.6	0.9	19	dbSNP_129	165	0,8600		0,0,4300	no	missense,missense,missense,utr-3	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	29,29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	241/261,286/306,100/120,	51499377	1,13005	2203	4300	6503	KLK8	SO:0001583	missense	0			-	HGNC	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.721G>A	19.37:g.51499377C>T	ENSP00000472016:p.Val241Ile	Somatic	0	38	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V286I	ENST00000600767.1	37	c.856	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602044	0.46423	2.27E-4	0.0	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.90732	-2.72;-2.72;-2.72	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001253	D	0.92331	0.7567	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.968;0.997	D	0.90875	0.4749	10	0.48119	T	0.1	.	7.4155	0.27042	0.0:0.8058:0.0:0.1942	rs56296296	100;241;286	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	I	286;241;100	ENSP00000375682:V286I;ENSP00000291726:V241I;ENSP00000341555:V100I	ENSP00000291726:V241I	V	-	1	0	KLK8	56191189	0.998000	0.40836	0.855000	0.33649	0.063000	0.16089	3.907000	0.56348	1.308000	0.44962	0.563000	0.77884	GTC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.542	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	protein_coding	OTTHUMT00000465032.2	C	NM_007196	rs56296296		51499377	-1	no_errors	ENST00000391806	ensembl	human	known	74_37	missense	SNP	0.962	T	T	51499377	C	T	51499377	3	4	78	1	0	0	0	0	1	0	0	0	8412	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	29343243	51499377	7629606	91	4389											
PPP1R12C	54776	genome.wustl.edu	37	chr19	55610363	55610363	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgccatgctcggccagcaGgcggcaggcatcctccacgc	12	19	0	0			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr19:55610363G>C	ENST00000263433.3	-	5	847	c.832C>G	c.(832-834)Ctg>Gtg	p.L278V	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.L278V|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.L204V	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCGGCCAGCAGGCGGCAGGCA	0.716																																																	0								ENSG00000125503						15	13	14					19																	55610363		2156	4258	6414	PPP1R12C	SO:0001583	missense	0			-	HGNC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.832C>G	19.37:g.55610363G>C	ENSP00000263433:p.Leu278Val	Somatic	0	65	0		0.572090768057978	197	15.38	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04		Missense_Mutation	SNP							pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L278V	ENST00000263433.3	37	c.832	CCDS12916.1	19	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831113	0.71258	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.69175	-0.38;-0.38;-0.38	4.6	1.08	0.20341	Ankyrin repeat-containing domain (4);	0.219175	0.29822	N	0.011105	T	0.64023	0.2561	L	0.47716	1.5	0.46725	D	0.999175	D;P;D	0.53745	0.962;0.865;0.962	P;B;P	0.53450	0.726;0.421;0.726	T	0.59867	-0.7373	10	0.51188	T	0.08	.	5.8197	0.18520	0.1757:0.0:0.6708:0.1536	.	204;278;278	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	V	278;278;204	ENSP00000263433:L278V;ENSP00000365573:L278V;ENSP00000387833:L204V	ENSP00000263433:L278V	L	-	1	2	PPP1R12C	60302175	0.999000	0.42202	0.984000	0.44739	0.983000	0.72400	0.517000	0.22832	0.115000	0.18071	0.462000	0.41574	CTG	-	pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.716	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	protein_coding	OTTHUMT00000451814.2	G	NM_017607	-		55610363	-1	no_errors	ENST00000263433	ensembl	human	known	74_37	missense	SNP	0.997	C	C	55610363	G	C	55610363	3	2	78	1	0	0	0	0	1	0	0	0	12361	991	35	4	1588	4	PPP1R12C	19	55610363	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	4110986	55610363	3518620	92	4390											
C20orf177	63939	genome.wustl.edu	37	chr20	58519635	58519635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggccccccactgcccctGggacctcaggggcactgaaa	11	17	1	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr20:58519635G>T	ENST00000358293.3	+	5	1052	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.G213W	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	213																	CACTGCCCCTGGGACCTCAGG	0.537																																																	0								ENSG00000196227						34	40	38					20																	58519635		2203	4298	6501	FAM217B	SO:0001583	missense	0			-	HGNC	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.637G>T	20.37:g.58519635G>T	ENSP00000351040:p.Gly213Trp	Somatic	0	66	0		0.572090768057978	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	B3KWH1|Q9NTA3	Missense_Mutation	SNP							NULL	p.G213W	ENST00000358293.3	37	c.637	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002595	0.54254	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26660	1.72;1.72	5.8	3.87	0.44632	.	0.768824	0.11980	N	0.510874	T	0.36441	0.0967	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.11131	-1.0600	10	0.72032	D	0.01	-20.4218	6.8862	0.24202	0.2033:0.13:0.6668:0.0	.	213	Q9NTX9	CT177_HUMAN	W	213	ENSP00000351040:G213W;ENSP00000354056:G213W	ENSP00000351040:G213W	G	+	1	0	C20orf177	57953030	0.378000	0.25114	0.014000	0.15608	0.008000	0.06430	0.710000	0.25748	1.459000	0.47892	0.655000	0.94253	GGG	-	NULL		0.537	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	protein_coding	OTTHUMT00000268139.1	G	NM_022106	-		58519635	1	no_errors	ENST00000358293	ensembl	human	known	74_37	missense	SNP	0.051	T	T	58519635	G	T	58519635	3	4	78	1	0	0	0	0	1	0	0	0	2098	1348	47	3	639	3	C20orf177	20	58519635	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		58519635	4505885	93	4391											
SEZ6L	23544	genome.wustl.edu	37	chr22	26695005	26695005	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactctggggatgtcacggtGatggacctgcactcaggtgg	16	9	3	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr22:26695005G>T	ENST00000248933.6	+	5	1313	c.1218G>T	c.(1216-1218)gtG>gtT	p.V406V	SEZ6L_ENST00000360929.3_Silent_p.V406V|SEZ6L_ENST00000403121.1_Silent_p.V179V|SEZ6L_ENST00000404234.3_Silent_p.V406V|SEZ6L_ENST00000343706.4_Silent_p.V406V|SEZ6L_ENST00000529632.2_Silent_p.V406V|SEZ6L_ENST00000402979.1_Silent_p.V179V			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	406	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ATGTCACGGTGATGGACCTGC	0.592																																																	0								ENSG00000100095						63	53	57					22																	26695005		2203	4300	6503	SEZ6L	SO:0001819	synonymous_variant	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1218G>T	22.37:g.26695005G>T		Somatic	0	30	0		0.572090768057978	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V406	ENST00000248933.6	37	c.1218	CCDS13833.1	22																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.592	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	G		-		26695005	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	SNP	1.000	T	T	26695005	G	T	26695005	2	4	78	1	0	0	0	0	0	0	0	1	14151	1277	45	3		3	SEZ6L	22	26695005	Silent	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		26695005	24609561	94	4392											
KREMEN1	83999	genome.wustl.edu	37	chr22	29490359	29490359	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagcatccatacaacactCtgaaataccccaacggggag	7	14	1	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr22:29490359C>A	ENST00000407188.1	+	2	205	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	KREMEN1_ENST00000400335.4_Missense_Mutation_p.L71M|KREMEN1_ENST00000327813.5_Missense_Mutation_p.L71M|KREMEN1_ENST00000400338.2_Missense_Mutation_p.L71M			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	69	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						ATACAACACTCTGAAATACCC	0.483																																																	0								ENSG00000183762						75	73	74					22																	29490359		1876	4097	5973	KREMEN1	SO:0001583	missense	0			-	HGNC	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.205C>A	22.37:g.29490359C>A	ENSP00000385431:p.Leu69Met	Somatic	0	82	0		0.572090768057978	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP							pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.L71M	ENST00000407188.1	37	c.211	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734396	0.48939	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.99	2.9	0.33743	.	0.000000	0.48286	D	0.000194	T	0.68109	0.2965	L	0.49126	1.545	0.43476	D	0.995695	D;D	0.71674	0.989;0.998	P;D	0.69142	0.885;0.962	T	0.65063	-0.6259	10	0.46703	T	0.11	.	7.0997	0.25330	0.0:0.7211:0.0:0.2789	.	71;71	Q96MU8-2;Q96MU8-3	.;.	M	71;71;71;69	ENSP00000383189:L71M;ENSP00000383192:L71M;ENSP00000331242:L71M;ENSP00000385431:L69M	ENSP00000331242:L71M	L	+	1	2	KREMEN1	27820359	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.324000	0.19610	0.632000	0.30432	0.650000	0.86243	CTG	-	pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	protein_coding	OTTHUMT00000320947.1	C		-		29490359	1	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29490359	C	A	29490359	3	1	78	1	0	0	0	0	1	0	0	0	8444	912	32	3	217	3	KREMEN1	22	29490359	Missense_Mutation	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	2795354	29490359	21814207	95	4393											
SHANK3	85358	genome.wustl.edu	37	chr22	51143505	51143505	+	Frame_Shift_Del	DEL	G	G	-													gtgacaaggaagccagaagaGgacggggctcggcgcagagg							TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chr22:51143505delG	ENST00000414786.2	+	16	2195	c.1968delG	c.(1966-1968)gagfs	p.E656fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.E671fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.E686fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	670	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCCAGAAGAGGACGGGGCTC	0.587																																																	0								ENSG00000251322						82	94	90					22																	51143505		2156	4255	6411	SHANK3	SO:0001589	frameshift_variant	0				HGNC	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1968delG	22.37:g.51143505delG	ENSP00000464552:p.Glu656fs	Somatic	0	53	0		0.572090768057978	57	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	D7UT47|Q8TET3	Frame_Shift_Del	DEL							pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D687fs	ENST00000414786.2	37	c.2058		22																																																																																			-	NULL		0.587	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	protein_coding	OTTHUMT00000316674.2	G	NM_001080420			51143505	1	no_errors	ENST00000262795	ensembl	human	known	74_37	frame_shift_del	DEL	0.791	-	-	51143505	G	-	51143505	7	5	78	1	0	1	0	1	0	0	0	0	14274	991	35	0	2124	0	SHANK3	22	51143505	Frame_Shift_Del	DEL	G	TCGA-DX-A6YU-01A-12D-A33E-09	21653146	51143505	161061	96	4394											
FAM9B	171483	genome.wustl.edu	37	chrX	8993603	8993603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaactctgtcacaaaGgtcttcaaagtcctcaagag	8	9	5	1			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chrX:8993603G>A	ENST00000327220.5	-	8	878	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	FAM9B_ENST00000362066.3_Missense_Mutation_p.L212F|FAM9B_ENST00000428477.1_Missense_Mutation_p.L172F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	172						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTCACAAAGGTCTTCAAAG	0.318																																																	0								ENSG00000177138						79	76	77					X																	8993603		2203	4298	6501	FAM9B	SO:0001583	missense	0			-	HGNC		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.514C>T	X.37:g.8993603G>A	ENSP00000318716:p.Leu172Phe	Somatic	0	191	0		0.572090768057978	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	168	18.45	Q0IJ68|Q8N7Z8	Missense_Mutation	SNP							pfam_Cor1/Xlr/Xmr	p.L172F	ENST00000327220.5	37	c.514	CCDS14132.1	X	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.120720	0.00031	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.605	-1.21	0.09524	.	.	.	.	.	T	0.16428	0.0395	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29610	-1.0006	7	0.12103	T	0.63	.	.	.	.	.	172;212	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	F	212;172;172	.	ENSP00000318716:L172F	L	-	1	0	FAM9B	8953603	0.059000	0.20769	0.000000	0.03702	0.000000	0.00434	-0.338000	0.07842	-3.065000	0.00255	-3.432000	0.00037	CTT	-	pfam_Cor1/Xlr/Xmr		0.318	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9B	protein_coding	OTTHUMT00000055702.2	G	NM_205849	-		8993603	-1	no_errors	ENST00000327220	ensembl	human	known	74_37	missense	SNP	0.000	A	A	8993603	G	A	8993603	3	1	78	1	0	0	0	0	1	0	0	0	5662	1000	35	2	50	2	FAM9B	23	8993603	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09		8993603	146276957	97	4395											
GPR173	54328	genome.wustl.edu	37	chrX	53106448	53106448	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgagtatcgtcaccgCaagatgaagccagtgcagat	10	11	2	3			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chrX:53106448C>G	ENST00000332582.4	+	2	1136	c.645C>G	c.(643-645)cgC>cgG	p.R215R		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	215					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ATCGTCACCGCAAGATGAAGC	0.597																																																	0								ENSG00000184194						23	22	23					X																	53106448		2197	4287	6484	GPR173	SO:0001819	synonymous_variant	0			-	HGNC	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.645C>G	X.37:g.53106448C>G		Somatic	0	38	0		0.572090768057978	0	100	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	14	60.00	B1B0A5	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R215	ENST00000332582.4	37	c.645	CCDS14349.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	protein_coding	OTTHUMT00000056717.2	C	NM_018969	-		53106448	1	no_errors	ENST00000332582	ensembl	human	known	74_37	silent	SNP	1.000	G	G	53106448	C	G	53106448	2	3	78	1	0	0	0	0	0	0	0	1	6673	697	25	4		4	GPR173	23	53106448	Silent	SNP	C	TCGA-DX-A6YU-01A-12D-A33E-09	44112845	53106448	102164112	98	4396											
GABRQ	55879	genome.wustl.edu	37	chrX	151815504	151815504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccctggactatcggatGcatgagaagttgtgggtccc	13	9	0	2			TCGA-DX-A6YU-01A-12D-A33E-09	TCGA-DX-A6YU-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ace05a35-d1b2-4aa7-9c34-05b79d14a493	da7c4573-b81f-450f-9aeb-48c58a975706	g.chrX:151815504G>A	ENST00000370306.2	+	4	422	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	134					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|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)	ACTATCGGATGCATGAGAAGT	0.483																																																	0								ENSG00000147402						304	211	242					X																	151815504		2203	4300	6503	GABRQ	SO:0001583	missense	0			-	HGNC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.402G>A	X.37:g.151815504G>A	ENSP00000359329:p.Met134Ile	Somatic	0	90	0		0.572090768057978	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.M134I	ENST00000370306.2	37	c.402	CCDS14707.1	X	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329244	0.24167	.	.	ENSG00000147402	ENST00000370306	T	0.77098	-1.07	5.42	3.59	0.41128	Neurotransmitter-gated ion-channel ligand-binding (3);	0.467652	0.18599	N	0.136516	T	0.69024	0.3065	L	0.34521	1.04	0.22066	N	0.999384	P	0.34462	0.454	B	0.34931	0.192	T	0.60667	-0.7218	10	0.87932	D	0	.	12.7988	0.57573	0.0:0.3064:0.6936:0.0	.	134	Q9UN88	GBRT_HUMAN	I	134	ENSP00000359329:M134I	ENSP00000359329:M134I	M	+	3	0	GABRQ	151566160	1.000000	0.71417	0.002000	0.10522	0.211000	0.24417	1.332000	0.33805	0.433000	0.26313	0.544000	0.68410	ATG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.483	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	protein_coding	OTTHUMT00000058763.2	G	NM_018558	-		151815504	1	no_errors	ENST00000370306	ensembl	human	known	74_37	missense	SNP	0.425	A	A	151815504	G	A	151815504	3	1	78	1	0	0	0	0	1	0	0	0	6177	1319	46	2	416	2	GABRQ	23	151815504	Missense_Mutation	SNP	G	TCGA-DX-A6YU-01A-12D-A33E-09	98709056	151815504	3455056	99	4397											
KIAA0319L	79932	genome.wustl.edu	37	chr1	35917355	35917355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacactgctgttagcattctCgagctgcaccccatcaggtc	8	14	2	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:35917355C>T	ENST00000325722.3	-	13	2170	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E83K	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	646	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTAGCATTCTCGAGCTGCACC	0.507											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000142687						128	123	125					1																	35917355		2203	4300	6503	KIAA0319L	SO:0001583	missense	0			-	HGNC	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1936G>A	1.37:g.35917355C>T	ENSP00000318406:p.Glu646Lys	Somatic	0	65	0	859	0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.53	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP							pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.E646K	ENST00000325722.3	37	c.1936	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976877	0.74360	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.70986	3.18;-0.39;3.18;-0.53	5.98	3.89	0.44902	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (1);	0.211885	0.50627	N	0.000111	T	0.56108	0.1963	L	0.27053	0.805	0.80722	D	1	D;P;P	0.58268	0.982;0.716;0.865	P;B;B	0.44518	0.452;0.06;0.294	T	0.50550	-0.8815	10	0.30854	T	0.27	-9.6201	8.0297	0.30457	0.0:0.7285:0.0:0.2715	.	646;646;88	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	K	646;83;646;646	ENSP00000318406:E646K;ENSP00000362363:E83K;ENSP00000395883:E646K;ENSP00000407576:E646K	ENSP00000318406:E646K	E	-	1	0	KIAA0319L	35689942	0.994000	0.37717	0.619000	0.29118	0.981000	0.71138	3.156000	0.50708	0.672000	0.31204	0.650000	0.86243	GAG	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom		0.507	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	protein_coding	OTTHUMT00000012684.2	C	NM_024874	-		35917355	-1	no_errors	ENST00000325722	ensembl	human	known	74_37	missense	SNP	0.971	T	T	35917355	C	T	35917355	3	4	79	1	0	0	0	0	1	0	0	0	8171	893	31	1	1249	1	KIAA0319L	1	35917355	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		35917355	213333266	1	4398											
FOXD2	2306	genome.wustl.edu	37	chr1	47904668	47904669	+	In_Frame_Ins	INS	-	-	CCGCAC													cgccggggccggccccgcatINSccgcacccgcacccgcacgc					rs113438724|rs3046924|rs71053113	byFrequency	TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:47904668_47904669insCCGCAC	ENST00000334793.5	+	1	2980_2981	c.861_862insCCGCAC	c.(862-864)ccg>CCGCACccg	p.288_288P>PHP		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	288	Ala-rich.|Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		cggccccgcatccgcacccgca	0.787														4830	0.964457	0.9107	0.9827	5008	,	,		7050	0.9881		0.992	False		,,,				2504	0.9714																0								ENSG00000186564			161,17		80,1,8						-2.5	0.2		dbSNP_102	1	364,38		182,0,19	no	coding	FOXD2	NM_004474.3		262,1,27	A1A1,A1R,RR		9.4527,9.5506,9.4828				525,55				FOXD2	SO:0001652	inframe_insertion	0				HGNC	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.874_879dupCCGCAC	1.37:g.47904669_47904674dupCCGCAC	ENSP00000335493:p.HisPro292dup	Somatic					0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5SVZ3	In_Frame_Ins	INS							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.291in_frame_insPH	ENST00000334793.5	37	c.861_862	CCDS30708.1	1																																																																																			-	NULL		0.787	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	protein_coding	OTTHUMT00000021831.1	-	NM_004474			47904669	1	no_errors	ENST00000334793	ensembl	human	known	74_37	in_frame_ins	INS	0.056:0.602	CCGCAC	CCGCAC	47904669	-	CCGCAC	47904668	7	5	79	1	0	1	1	0	0	0	0	0	5999	1432	50	0	863	0	FOXD2	1	47904668	In_Frame_Ins	INS	-	TCGA-DX-A6YX-01A-11D-A417-09	11987313	47904668	201345953	2	4399											
TTC4	7268	genome.wustl.edu	37	chr1	55207181	55207181	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaaggtgtaccagataCgatgactaagccagggcccc	13	10	0	3	rs200228539		TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:55207181C>T	ENST00000371281.3	+	10	1246	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	387										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GTACCAGATACGATGACTAAG	0.512													C|||	1	0.000199681	0	0	5008	,	,		19064	0.001		0	False		,,,				2504	0																0								ENSG00000243725						81	84	83					1																	55207181		2203	4300	6503	TTC4	SO:0001587	stop_gained	0			GMAF=0.0005	HGNC		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1159C>T	1.37:g.55207181C>T	ENSP00000360329:p.Arg387*	Somatic	0	32	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q53Y95|Q5TA96|Q9H3I2	Nonsense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR-contain_dom	p.R387*	ENST00000371281.3	37	c.1159	CCDS596.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.64	3.439464	0.63067	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	.	.	.	5.1	-0.219	0.13135	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	3.4176	0.07381	0.3546:0.4306:0.0803:0.1344	.	.	.	.	X	387;398	.	ENSP00000360329:R387X	R	+	1	2	TTC4	54979769	0.860000	0.29831	0.124000	0.21820	0.193000	0.23685	1.201000	0.32259	-0.108000	0.12066	-1.059000	0.02297	CGA	-	NULL		0.512	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC4	protein_coding	OTTHUMT00000027432.1	C	NM_004623	rs200228539		55207181	1	no_errors	ENST00000371281	ensembl	human	known	74_37	nonsense	SNP	0.144	T	T	55207181	C	T	55207181	4	4	79	1	0	0	0	0	0	1	0	0	16717	528	19	1	1197	1	TTC4	1	55207181	Nonsense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09	7302513	55207181	194043440	3	4400											
GBP2	2634	genome.wustl.edu	37	chr1	89578203	89578203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttattcttcagctcctgCagcttctgagtaaagagacg	8	10	3	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:89578203C>T	ENST00000370466.3	-	8	1582	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	438					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCAGCTCCTGCAGCTTCTGAG	0.463																																																	0								ENSG00000162645						180	174	176					1																	89578203		2203	4300	6503	GBP2	SO:0001819	synonymous_variant	0			-	HGNC	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1314G>A	1.37:g.89578203C>T		Somatic	0	43	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.L438	ENST00000370466.3	37	c.1314	CCDS719.1	1																																																																																			-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.463	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	protein_coding	OTTHUMT00000029406.2	C	NM_004120	-		89578203	-1	no_errors	ENST00000370466	ensembl	human	known	74_37	silent	SNP	0.000	T	T	89578203	C	T	89578203	2	4	79	1	0	0	0	0	0	0	0	1	6276	697	25	2		2	GBP2	1	89578203	Silent	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09	34371022	89578203	159672418	4	4401											
LRIG2	9860	genome.wustl.edu	37	chr1	113655143	113655143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaatggatctgactattcGcactggtgccatggccagat	11	11	1	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:113655143G>T	ENST00000361127.5	+	14	2039	c.1841G>T	c.(1840-1842)cGc>cTc	p.R614L	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	614	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478																																																	0								ENSG00000198799						145	139	141					1																	113655143		2203	4300	6503	LRIG2	SO:0001583	missense	0			-	HGNC	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1841G>T	1.37:g.113655143G>T	ENSP00000355396:p.Arg614Leu	Somatic	0	40	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q9NSN2	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R614L	ENST00000361127.5	37	c.1841	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	g	34	5.351914	0.95830	.	.	ENSG00000198799	ENST00000361127	T	0.67523	-0.27	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	N	0.24115	0.695	0.80722	D	1	P	0.43314	0.803	P	0.53006	0.715	T	0.55140	-0.8187	10	0.24483	T	0.36	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	L	614	ENSP00000355396:R614L	ENSP00000355396:R614L	R	+	2	0	LRIG2	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	protein_coding	OTTHUMT00000033549.2	G	NM_014813	-		113655143	1	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113655143	G	T	113655143	3	4	79	1	0	0	0	0	1	0	0	0	8947	1087	38	3	1895	3	LRIG2	1	113655143	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	24076940	113655143	135595478	5	4402											
CD2	914	genome.wustl.edu	37	chr1	117311333	117311333	+	Frame_Shift_Del	DEL	C	C	-													cagcagaaaggcccgcccctCcccagacctcgagttcagcc							TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:117311333delC	ENST00000369478.3	+	5	1092	c.984delC	c.(982-984)ctcfs	p.L328fs		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	328	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GCCCGCCCCTCCCCAGACCTC	0.542																																					NSCLC(14;263 555 26380 43512 51332)												0								ENSG00000116824						75	82	80					1																	117311333		2203	4300	6503	CD2	SO:0001589	frameshift_variant	0				HGNC	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.984delC	1.37:g.117311333delC	ENSP00000358490:p.Leu328fs	Somatic	0	22	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q96TE5	Frame_Shift_Del	DEL							pfam_Ig_C2-set,pfam_Ig_V-set,prints_CD2	p.R330fs	ENST00000369478.3	37	c.984	CCDS889.1	1																																																																																			-	NULL		0.542	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	protein_coding	OTTHUMT00000059039.2	C	NM_001767			117311333	1	no_errors	ENST00000369478	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	117311333	C	-	117311333	7	5	79	1	0	1	0	1	0	0	0	0	2981	842	30	0	1002	0	CD2	1	117311333	Frame_Shift_Del	DEL	C	TCGA-DX-A6YX-01A-11D-A417-09	3656190	117311333	131939288	6	4403											
INTS3	65123	genome.wustl.edu	37	chr1	153737498	153737498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgagctatatcagaagcaGcccaagattggctaccacct	8	13	1	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:153737498G>T	ENST00000318967.2	+	20	2617	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.Q477H|INTS3_ENST00000435409.2_Missense_Mutation_p.Q683H|INTS3_ENST00000456435.1_Missense_Mutation_p.Q477H	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	684					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCAGAAGCAGCCCAAGATTG	0.532																																																	0								ENSG00000143624						233	222	226					1																	153737498		2203	4300	6503	INTS3	SO:0001583	missense	0			-	HGNC	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2049G>T	1.37:g.153737498G>T	ENSP00000318641:p.Gln683His	Somatic	0	32	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP							pfam_Int_cplx_su3	p.Q683H	ENST00000318967.2	37	c.2049	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887087	0.52014	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.91	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	M	0.64404	1.975	0.42968	D	0.994425	D;D;D	0.64830	0.994;0.98;0.988	D;D;D	0.78314	0.991;0.948;0.977	T	0.59925	-0.7362	9	0.62326	D	0.03	.	7.1424	0.25564	0.2806:0.0:0.7194:0.0	.	477;684;683	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	683;477;683;477	.	ENSP00000318641:Q683H	Q	+	3	2	INTS3	152004122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.298000	0.43602	0.258000	0.21686	0.563000	0.77884	CAG	-	NULL		0.532	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	protein_coding	OTTHUMT00000090045.2	G	NM_023015	-		153737498	1	no_errors	ENST00000318967	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153737498	G	T	153737498	3	4	79	1	0	0	0	0	1	0	0	0	7781	962	34	3	2127	3	INTS3	1	153737498	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	36426165	153737498	95513123	7	4404											
LAMC2	3918	genome.wustl.edu	37	chr1	183195971	183195971	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtgcttctggctacaagaGagattcagcgagactggggc	14	8	2	3			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:183195971G>T	ENST00000264144.4	+	9	1270	c.1205G>T	c.(1204-1206)aGa>aTa	p.R402I	LAMC2_ENST00000493293.1_Missense_Mutation_p.R402I	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	402	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGCTACAAGAGAGATTCAGCG	0.547																																																	0								ENSG00000058085						191	202	198					1																	183195971		2203	4300	6503	LAMC2	SO:0001583	missense	0			-	HGNC	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1205G>T	1.37:g.183195971G>T	ENSP00000264144:p.Arg402Ile	Somatic	0	52	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.R402I	ENST00000264144.4	37	c.1205	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877617	0.91664	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.64803	-0.12;-0.12	5.39	5.39	0.77823	EGF-like, laminin (2);	0.000000	0.85682	D	0.000000	D	0.83280	0.5220	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86433	0.1762	10	0.87932	D	0	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	402;402;402	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	I	402	ENSP00000432063:R402I;ENSP00000264144:R402I	ENSP00000264144:R402I	R	+	2	0	LAMC2	181462594	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.045000	0.93812	2.512000	0.84698	0.549000	0.68633	AGA	-	pfam_EGF_laminin,smart_EGF_laminin		0.547	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	protein_coding	OTTHUMT00000086258.1	G	NM_005562	-		183195971	1	no_errors	ENST00000264144	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183195971	G	T	183195971	3	4	79	1	0	0	0	0	1	0	0	0	8617	942	33	3	1239	3	LAMC2	1	183195971	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	29458473	183195971	66054650	8	4405											
OBSCN	84033	genome.wustl.edu	37	chr1	228562289	228562289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctctgtccttttgcagacgGagcccccctggagagcagca	12	14	1	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr1:228562289G>T	ENST00000422127.1	+	97	22543	c.22499G>T	c.(22498-22500)gGa>gTa	p.G7500V	OBSCN_ENST00000570156.2_Missense_Mutation_p.G8457V|OBSCN_ENST00000366707.4_Missense_Mutation_p.G5134V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7500	Ig-like 55.				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)				TTTGCAGACGGAGCCCCCCTG	0.627																																																	0								ENSG00000154358						82	91	88					1																	228562289		2087	4229	6316	OBSCN	SO:0001583	missense	0			-	HGNC	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.22499G>T	1.37:g.228562289G>T	ENSP00000409493:p.Gly7500Val	Somatic	0	55	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G7500V	ENST00000422127.1	37	c.22499	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172108	0.78452	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	D;D	0.87179	-2.22;-2.22	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.814740	0.10871	N	0.624929	D	0.95755	0.8619	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95184	0.8302	10	0.87932	D	0	.	18.6541	0.91441	0.0:0.0:1.0:0.0	.	7500	Q5VST9	OBSCN_HUMAN	V	7500;5134	ENSP00000409493:G7500V;ENSP00000355668:G5134V	ENSP00000355668:G5134V	G	+	2	0	OBSCN	226628912	1.000000	0.71417	0.090000	0.20809	0.003000	0.03518	5.865000	0.69583	2.420000	0.82092	0.561000	0.74099	GGA	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228562289	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.942	T	T	228562289	G	T	228562289	3	4	79	1	0	0	0	0	1	0	0	0	10814	1174	41	3	24091	3	OBSCN	1	228562289	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	45366318	228562289	20688332	9	4406											
VPS54	51542	genome.wustl.edu	37	chr2	64193060	64193060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtaaaactgaattaaaaGttaaggaatcatccaaggca	8	5	1	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr2:64193060G>A	ENST00000272322.4	-	6	687	c.533C>T	c.(532-534)aCt>aTt	p.T178I	VPS54_ENST00000354504.3_Missense_Mutation_p.T61I|VPS54_ENST00000409558.4_Missense_Mutation_p.T166I			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	178					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAATTAAAAGTTAAGGAATC	0.313																																																	0								ENSG00000143952						57	62	60					2																	64193060		2203	4300	6503	VPS54	SO:0001583	missense	0			-	HGNC	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.533C>T	2.37:g.64193060G>A	ENSP00000272322:p.Thr178Ile	Somatic	0	188	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	92	8.00	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP							pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.T178I	ENST00000272322.4	37	c.533	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221044	0.79464	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.39997	1.15;1.05;1.05	5.47	4.57	0.56435	.	0.045974	0.85682	D	0.000000	T	0.64527	0.2606	M	0.73962	2.25	0.80722	D	1	P;D;D	0.89917	0.692;1.0;1.0	P;D;D	0.87578	0.711;0.998;0.997	T	0.67421	-0.5675	10	0.49607	T	0.09	.	15.4953	0.75643	0.0:0.0:0.8605:0.1395	.	61;178;166	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	I	61;178;166;166;178	ENSP00000346499:T61I;ENSP00000272322:T178I;ENSP00000386980:T166I	ENSP00000272322:T178I	T	-	2	0	VPS54	64046564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.855000	0.75445	1.274000	0.44362	0.467000	0.42956	ACT	-	NULL		0.313	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	protein_coding	OTTHUMT00000327062.2	G	NM_016516	-		64193060	-1	no_errors	ENST00000272322	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64193060	G	A	64193060	3	1	79	1	0	0	0	0	1	0	0	0	17223	1029	36	2	2472	2	VPS54	2	64193060	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09		64193060	179006313	10	4407											
SCN2A	6326	genome.wustl.edu	37	chr2	166243439	166243439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttcactggagaatgtGtgctgaaactgatctctctt	9	8	4	3			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr2:166243439G>A	ENST00000375437.2	+	26	5025	c.4735G>A	c.(4735-4737)Gtg>Atg	p.V1579M	SCN2A_ENST00000283256.6_Missense_Mutation_p.V1579M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1579M|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1579M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1579					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGAGAATGTGTGCTGAAACT	0.393																																																	0								ENSG00000136531						251	228	236					2																	166243439		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4735G>A	2.37:g.166243439G>A	ENSP00000364586:p.Val1579Met	Somatic	0	70	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	3	89.29	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V1579M	ENST00000375437.2	37	c.4735	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926066	0.52759	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.17	5.17	0.71159	Ion transport (1);	0.079198	0.52532	D	0.000080	D	0.98940	0.9640	M	0.78223	2.4	0.45662	D	0.998588	P;P	0.46277	0.467;0.875	B;P	0.58266	0.237;0.836	D	0.99869	1.1094	10	0.87932	D	0	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	1579;1579	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1579	ENSP00000364586:V1579M;ENSP00000349973:V1579M;ENSP00000283256:V1579M;ENSP00000364576:V1579M	ENSP00000283256:V1579M	V	+	1	0	SCN2A	165951685	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.734000	0.55037	2.418000	0.82041	0.650000	0.86243	GTG	-	pfam_Ion_trans_dom		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	G	NM_021007	-		166243439	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	166243439	G	A	166243439	3	1	79	1	0	0	0	0	1	0	0	0	13924	1377	48	2	4929	2	SCN2A	2	166243439	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	102050379	166243439	76955934	11	4408											
DGKD	8527	genome.wustl.edu	37	chr2	234343069	234343069	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcttgtgtgctgataacaGaaaagaaatggaagattgga	11	4	1	4			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr2:234343069G>T	ENST00000264057.2	+	4	404	c.392G>T	c.(391-393)aGa>aTa	p.R131I	DGKD_ENST00000409813.3_Missense_Mutation_p.R87I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	131	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTGATAACAGAAAAGAAATG	0.408																																																	0								ENSG00000077044						163	163	163					2																	234343069		2203	4300	6503	DGKD	SO:0001583	missense	0			-	HGNC	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.392G>T	2.37:g.234343069G>T	ENSP00000264057:p.Arg131Ile	Somatic	0	80	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R131I	ENST00000264057.2	37	c.392	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917261	0.92249	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.066582	0.64402	D	0.000018	T	0.54695	0.1874	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.83275	0.996;0.961	T	0.54695	-0.8255	10	0.56958	D	0.05	.	18.6329	0.91366	0.0:0.0:1.0:0.0	.	87;131	Q16760-2;Q16760	.;DGKD_HUMAN	I	131;67;101;87	ENSP00000264057:R131I;ENSP00000407938:R67I;ENSP00000395530:R101I;ENSP00000386455:R87I	ENSP00000264057:R131I	R	+	2	0	DGKD	234007808	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	9.108000	0.94275	2.717000	0.92951	0.563000	0.77884	AGA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.408	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	protein_coding	OTTHUMT00000257072.2	G	NM_003648	-		234343069	1	no_errors	ENST00000264057	ensembl	human	known	74_37	missense	SNP	1.000	T	T	234343069	G	T	234343069	3	4	79	1	0	0	0	0	1	0	0	0	4469	942	33	3	430	3	DGKD	2	234343069	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	68099630	234343069	8856304	12	4409											
EPHA3	2042	genome.wustl.edu	37	chr3	89259542	89259542	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggtggaggttagagggtCttgtgtcaacaattctaagg	14	6	3	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr3:89259542C>T	ENST00000336596.2	+	3	911	c.686C>T	c.(685-687)tCt>tTt	p.S229F	EPHA3_ENST00000452448.2_Missense_Mutation_p.S229F|EPHA3_ENST00000494014.1_Missense_Mutation_p.S229F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	229	Cys-rich.		S -> Y (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.S229Y(1)		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)		GTTAGAGGGTCTTGTGTCAAC	0.483										TSP Lung(6;0.00050)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000044524						156	150	152					3																	89259542		2203	4300	6503	EPHA3	SO:0001583	missense	0			-	HGNC	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.686C>T	3.37:g.89259542C>T	ENSP00000337451:p.Ser229Phe	Somatic	0	55	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q9H2V3|Q9H2V4	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S229F	ENST00000336596.2	37	c.686	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617573	0.87359	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73789	-0.76;2.68;-0.78	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.74023	0.982;0.965	D	0.87250	0.2272	9	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	229;229	P29320;P29320-2	EPHA3_HUMAN;.	F	229	ENSP00000337451:S229F;ENSP00000399926:S229F;ENSP00000419190:S229F	.	S	+	2	0	EPHA3	89342232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.072000	0.71238	2.798000	0.96311	0.655000	0.94253	TCT	-	pirsf_Tyr_kinase_ephrin_rcpt		0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	C	NM_005233	-		89259542	1	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89259542	C	T	89259542	3	4	79	1	0	0	0	0	1	0	0	0	5170	913	32	2	696	2	EPHA3	3	89259542	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		89259542	108762888	13	4410											
ZXDC	79364	genome.wustl.edu	37	chr3	126194126	126194126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgtgcgtgagcaggtGcaccttgagctggtgcttct	15	12	1	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr3:126194126G>T	ENST00000389709.3	-	1	636	c.583C>A	c.(583-585)Cac>Aac	p.H195N	ZXDC_ENST00000336332.5_Missense_Mutation_p.H195N	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	195					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GTGAGCAGGTGCACCTTGAGC	0.721																																																	0								ENSG00000070476						6	8	7					3																	126194126		1938	4052	5990	ZXDC	SO:0001583	missense	0			-	HGNC	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.583C>A	3.37:g.126194126G>T	ENSP00000374359:p.His195Asn	Somatic	0	19	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H195N	ENST00000389709.3	37	c.583	CCDS43145.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348728	0.82132	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.52754	0.65;0.65	3.53	3.53	0.40419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.76062	0.3935	H	0.95043	3.615	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.83705	0.0184	10	0.87932	D	0	-17.3742	12.9961	0.58648	0.0:0.0:1.0:0.0	.	195;195	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	N	195	ENSP00000374359:H195N;ENSP00000337694:H195N	ENSP00000337694:H195N	H	-	1	0	ZXDC	127676816	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.417000	0.80156	1.701000	0.51217	0.485000	0.47835	CAC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.721	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	protein_coding	OTTHUMT00000370327.2	G	NM_025112	-		126194126	-1	no_errors	ENST00000389709	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126194126	G	T	126194126	3	4	79	1	0	0	0	0	1	0	0	0	18259	1319	46	3	2039	3	ZXDC	3	126194126	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	36934584	126194126	71828304	14	4411											
TET2	54790	genome.wustl.edu	37	chr4	106158255	106158255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttactctcaaatcacagaaGcaagtaaaagttgaaatgtc	6	8	2	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr4:106158255G>T	ENST00000540549.1	+	3	4016	c.3156G>T	c.(3154-3156)aaG>aaT	p.K1052N	TET2_ENST00000513237.1_Missense_Mutation_p.K1073N|TET2_ENST00000545826.1_Missense_Mutation_p.K1052N|TET2_ENST00000413648.2_Missense_Mutation_p.K1052N|TET2_ENST00000305737.2_Missense_Mutation_p.K1052N|TET2_ENST00000380013.4_Missense_Mutation_p.K1052N|TET2_ENST00000394764.1_Missense_Mutation_p.K1052N			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1052					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)		AATCACAGAAGCAAGTAAAAG	0.448			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0								ENSG00000168769						78	75	76					4																	106158255		2203	4300	6503	TET2	SO:0001583	missense	0			-	HGNC	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.3156G>T	4.37:g.106158255G>T	ENSP00000442788:p.Lys1052Asn	Somatic	0	45	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP							NULL	p.K1052N	ENST00000540549.1	37	c.3156	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396828	0.62177	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.20598	2.06;2.06;3.28;2.06;2.06;2.06;2.06	5.79	3.95	0.45737	.	0.474719	0.20378	N	0.093519	T	0.22859	0.0552	L	0.40543	1.245	0.36581	D	0.873566	P;P;P	0.51537	0.467;0.467;0.946	B;B;P	0.50314	0.279;0.279;0.637	T	0.16247	-1.0409	10	0.66056	D	0.02	.	6.3434	0.21335	0.3902:0.0:0.6098:0.0	.	1073;1052;1052	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	N	1052;1052;1052;1073;1052;1052;1052	ENSP00000306705:K1052N;ENSP00000442788:K1052N;ENSP00000442867:K1052N;ENSP00000425443:K1073N;ENSP00000369351:K1052N;ENSP00000378245:K1052N;ENSP00000391448:K1052N	ENSP00000265149:K1052N	K	+	3	2	TET2	106377704	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.939000	0.28978	1.318000	0.45170	0.655000	0.94253	AAG	-	NULL		0.448	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	G	NM_017628	-		106158255	1	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	106158255	G	T	106158255	3	4	79	1	0	0	0	0	1	0	0	0	15777	962	34	3	3158	3	TET2	4	106158255	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09		106158255	84996021	15	4412											
DNAH5	1767	genome.wustl.edu	37	chr5	13829759	13829759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcatggccactgagcGgaaattaatcttcaagtttt	7	10	3	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr5:13829759G>A	ENST00000265104.4	-	38	6408	c.6304C>T	c.(6304-6306)Cgc>Tgc	p.R2102C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2102	AAA 1. {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.R2102C(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)					GCCACTGAGCGGAAATTAATC	0.448									Kartagener syndrome																																								1	Substitution - Missense(1)	endometrium(1)						ENSG00000039139						115	105	108					5																	13829759		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.6304C>T	5.37:g.13829759G>A	ENSP00000265104:p.Arg2102Cys	Somatic	0	62	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	69	10.39	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R2102C	ENST00000265104.4	37	c.6304	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159228	0.78226	.	.	ENSG00000039139	ENST00000265104	T	0.15256	2.44	5.46	5.46	0.80206	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77718	-0.2483	10	0.87932	D	0	.	14.1892	0.65628	0.0:0.0:0.8504:0.1495	.	2102	Q8TE73	DYH5_HUMAN	C	2102	ENSP00000265104:R2102C	ENSP00000265104:R2102C	R	-	1	0	DNAH5	13882759	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.541000	0.67212	2.550000	0.86006	0.655000	0.94253	CGC	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13829759	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	A	A	13829759	G	A	13829759	3	1	79	1	0	0	0	0	1	0	0	0	4606	1116	39	1	7738	1	DNAH5	5	13829759	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09		13829759	167085501	16	4413											
SEMA6A	57556	genome.wustl.edu	37	chr5	115822489	115822489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacaacatcacgcccGttgatacgaatcacatctgt	8	13	3	1	rs201133760	byFrequency	TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr5:115822489G>A	ENST00000343348.6	-	10	1705	c.918C>T	c.(916-918)aaC>aaT	p.N306N	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'Flank|SEMA6A_ENST00000510263.1_Silent_p.N306N|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.N306N	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	306	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATCACGCCCGTTGATACGAA	0.473													G|||	3	0.000599042	0	0.0014	5008	,	,		17603	0		0.002	False		,,,				2504	0																0								ENSG00000092421						140	136	137					5																	115822489		1998	4195	6193	SEMA6A	SO:0001819	synonymous_variant	0			GMAF=0	HGNC	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.918C>T	5.37:g.115822489G>A		Somatic	0	126	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	54	38.64	Q9P2H9	Silent	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.N306	ENST00000343348.6	37	c.918	CCDS47256.1	5																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.473	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	protein_coding	OTTHUMT00000371270.1	G	NM_020796	rs201133760		115822489	-1	no_errors	ENST00000257414	ensembl	human	known	74_37	silent	SNP	0.994	A	A	115822489	G	A	115822489	2	1	79	1	0	0	0	0	0	0	0	1	14047	1136	40	1		1	SEMA6A	5	115822489	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	101992730	115822489	65092771	17	4414											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347582	140347582	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaggccacactgcctttcCgactgaatggctttggaaac	11	11	0	1	rs551685820		TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr5:140347582C>G	ENST00000289269.5	+	1	1763	c.1231C>G	c.(1231-1233)Cga>Gga	p.R411G	PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	411	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(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCCTTTCCGACTGAATGG	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		21228	0		0	False		,,,				2504	0				Melanoma(190;638 2083 3390 11909 52360)												0								ENSG00000243232						90	86	87					5																	140347582		2203	4300	6503	PCDHAC2	SO:0001583	missense	0			-	HGNC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1231C>G	5.37:g.140347582C>G	ENSP00000289269:p.Arg411Gly	Somatic	0	26	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R411G	ENST00000289269.5	37	c.1231	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	1.096	-0.662629	0.03454	.	.	ENSG00000243232	ENST00000289269	T	0.55234	0.53	5.82	0.486	0.16836	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	N	0.003724	T	0.40015	0.1100	L	0.46741	1.465	0.20196	N	0.99993	B;B	0.16166	0.004;0.016	B;B	0.17722	0.013;0.019	T	0.32025	-0.9922	10	0.54805	T	0.06	.	6.2459	0.20818	0.5929:0.2398:0.0981:0.0691	.	411;411	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	G	411	ENSP00000289269:R411G	ENSP00000289269:R411G	R	+	1	2	PCDHAC2	140327766	0.993000	0.37304	0.944000	0.38274	0.015000	0.08874	1.894000	0.39768	0.055000	0.16094	-0.140000	0.14226	CGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.572	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	protein_coding	OTTHUMT00000251802.2	C	NM_018899	-		140347582	1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	SNP	0.143	G	G	140347582	C	G	140347582	3	3	79	1	0	0	0	0	1	0	0	0	11535	644	23	4	1233	4	PCDHAC2	5	140347582	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09	24525093	140347582	40567678	18	4415											
KIF4B	285643	genome.wustl.edu	37	chr5	154394598	154394598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgatggagaagaatcaGtccctggtagaggagaatga	13	7	1	6			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr5:154394598G>A	ENST00000435029.4	+	1	1339	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	393					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAAGAATCAGTCCCTGGTAG	0.463																																																	0								ENSG00000226650						127	128	128					5																	154394598		2203	4300	6503	KIF4B	SO:0001819	synonymous_variant	0			-	HGNC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1179G>A	5.37:g.154394598G>A		Somatic	0	82	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41		Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q393	ENST00000435029.4	37	c.1179	CCDS47324.1	5																																																																																			-	NULL		0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	G		-		154394598	1	no_errors	ENST00000435029	ensembl	human	known	74_37	silent	SNP	0.065	A	A	154394598	G	A	154394598	2	1	79	1	0	0	0	0	0	0	0	1	8306	1020	36	2		2	KIF4B	5	154394598	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	14047016	154394598	26520662	19	4416											
DOCK2	1794	genome.wustl.edu	37	chr5	169504797	169504797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcatctctctggcttcCatgaattctgactgcagcac	6	14	4	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr5:169504797C>T	ENST00000256935.8	+	48	5030	c.4950C>T	c.(4948-4950)tcC>tcT	p.S1650S	DOCK2_ENST00000520908.1_Silent_p.S1142S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S711S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1650					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)			CTCTGGCTTCCATGAATTCTG	0.597																																																	0								ENSG00000134516						123	108	113					5																	169504797		2203	4300	6503	DOCK2	SO:0001819	synonymous_variant	0			-	HGNC	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.4950C>T	5.37:g.169504797C>T		Somatic	0	29	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	Q2M3I0|Q96AK7	Silent	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.S1650	ENST00000256935.8	37	c.4950	CCDS4371.1	5																																																																																			-	NULL		0.597	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	-		169504797	1	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	SNP	0.999	T	T	169504797	C	T	169504797	2	4	79	1	0	0	0	0	0	0	0	1	4689	581	21	2		2	DOCK2	5	169504797	Silent	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09	15110199	169504797	11410463	20	4417											
MICB	4277	genome.wustl.edu	37	chr6	31477568	31477568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctccagagcttgtgaGcctgcaggtcctggatcaac	10	13	3	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr6:31477568G>T	ENST00000252229.6	+	6	1113	c.1034G>T	c.(1033-1035)aGc>aTc	p.S345I	MICB_ENST00000399150.3_Missense_Mutation_p.S302I|MICB_ENST00000538442.1_Missense_Mutation_p.S313I	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GAGCTTGTGAGCCTGCAGGTC	0.527																																																	0								ENSG00000204516						124	121	122					6																	31477568		1249	2580	3829	MICB	SO:0001583	missense	0			-	HGNC		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.1034G>T	6.37:g.31477568G>T	ENSP00000252229:p.Ser345Ile	Somatic	0	45	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90		Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S345I	ENST00000252229.6	37	c.1034	CCDS43449.1	6	.	.	.	.	.	.	.	.	.	.	N	10.51	1.371047	0.24771	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.01126	5.3;5.3;5.41	1.11	-0.91	0.10511	.	.	.	.	.	T	0.00875	0.0029	L	0.27053	0.805	0.09310	N	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.78314	0.983;0.991;0.991	T	0.52290	-0.8595	9	0.87932	D	0	.	3.9685	0.09443	0.4956:0.0:0.5044:0.0	.	313;302;345	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	I	313;302;345	ENSP00000442345:S313I;ENSP00000382103:S302I;ENSP00000252229:S345I	ENSP00000252229:S345I	S	+	2	0	MICB	31585547	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.376000	0.07465	-0.369000	0.08028	0.313000	0.20887	AGC	-	NULL		0.527	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	protein_coding	OTTHUMT00000076102.3	G	NM_005931	-		31477568	1	no_errors	ENST00000252229	ensembl	human	known	74_37	missense	SNP	0.001	T	T	31477568	G	T	31477568	3	4	79	1	0	0	0	0	1	0	0	0	9577	971	34	3	1056	3	MICB	6	31477568	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09		31477568	139637499	21	4418											
C6orf97	80129	genome.wustl.edu	37	chr6	151869452	151869452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagcttagagacctgcGcaaagaaaatgaattcgtga	9	8	2	4	rs200538059		TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr6:151869452G>A	ENST00000239374.7	+	5	701	c.602G>A	c.(601-603)cGc>cAc	p.R201H	CCDC170_ENST00000367290.5_Missense_Mutation_p.R201H	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	201								p.R201H(1)									AGAGACCTGCGCAAAGAAAAT	0.353																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000120262	G	HIS/ARG	0,3670		0,0,1835	59	54	56		602	3.3	1	6		56	1,8157		0,1,4078	yes	missense	C6orf97	NM_025059.3	29	0,1,5913	AA,AG,GG		0.0123,0.0,0.0085	benign	201/716	151869452	1,11827	1835	4079	5914	CCDC170	SO:0001583	missense	0			-	HGNC	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.602G>A	6.37:g.151869452G>A	ENSP00000239374:p.Arg201His	Somatic	0	106	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.R201H	ENST00000239374.7	37	c.602	CCDS43515.1	6	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691904	0.15039	0.0	1.23E-4	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10099	2.91;2.91	5.48	3.32	0.38043	.	0.552403	0.19336	N	0.116789	T	0.01156	0.0038	N	0.02011	-0.69	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.15499	T	0.54	1.1149	10.969	0.47428	0.2274:0.0:0.7726:0.0	.	201	Q8IYT3	CF097_HUMAN	H	201	ENSP00000239374:R201H;ENSP00000356259:R201H	ENSP00000239374:R201H	R	+	2	0	C6orf97	151911145	1.000000	0.71417	0.993000	0.49108	0.723000	0.41478	1.873000	0.39558	1.271000	0.44313	0.585000	0.79938	CGC	-	NULL		0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	protein_coding	OTTHUMT00000042727.2	G	NM_025059	rs200538059		151869452	1	no_errors	ENST00000367290	ensembl	human	known	74_37	missense	SNP	0.998	A	A	151869452	G	A	151869452	3	1	79	1	0	0	0	0	1	0	0	0	2376	1087	38	1	620	1	C6orf97	6	151869452	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	120391884	151869452	19245615	22	4419											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121623806	121623806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttacaatggctcattgaCatctcctccctgcacagaca	5	14	2	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr7:121623806C>A	ENST00000393386.2	+	7	1118	c.707C>A	c.(706-708)aCa>aAa	p.T236K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T236K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	236	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGCTCATTGACATCTCCTCCC	0.378																																																	0								ENSG00000106278						173	155	161					7																	121623806		2203	4300	6503	PTPRZ1	SO:0001583	missense	0			-	HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.707C>A	7.37:g.121623806C>A	ENSP00000377047:p.Thr236Lys	Somatic	0	69	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	31	55.71	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.T236K	ENST00000393386.2	37	c.707	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891087	0.91889	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.78126	-1.15;-1.15	5.62	5.62	0.85841	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.074260	0.56097	D	0.000037	D	0.92414	0.7592	H	0.96430	3.82	0.42913	D	0.994264	D;D	0.89917	1.0;1.0	D;D	0.76071	0.973;0.987	D	0.94216	0.7463	10	0.87932	D	0	.	20.011	0.97449	0.0:1.0:0.0:0.0	.	236;236	C9JFM0;P23471	.;PTPRZ_HUMAN	K	236	ENSP00000377047:T236K;ENSP00000410000:T236K	ENSP00000377047:T236K	T	+	2	0	PTPRZ1	121411042	1.000000	0.71417	0.959000	0.39883	0.977000	0.68977	7.256000	0.78350	2.813000	0.96785	0.543000	0.68304	ACA	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	C	NM_002851	-		121623806	1	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121623806	C	A	121623806	3	1	79	1	0	0	0	0	1	0	0	0	12822	478	17	3	733	3	PTPRZ1	7	121623806	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		121623806	37514857	23	4420											
FLNC	2318	genome.wustl.edu	37	chr7	128486157	128486160	+	Frame_Shift_Del	DEL	ACCT	ACCT	-													cctcgggggccaagacagacAcctatgtgacagacaatggg							TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	ACCT	ACCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr7:128486157_128486160delACCT	ENST00000325888.8	+	22	4165_4168	c.3904_3907delACCT	c.(3904-3909)acctatfs	p.TY1302fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.TY1302fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1302					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						CAAGACAGACACCTATGTGACAGA	0.627																																																	0								ENSG00000128591																																			FLNC	SO:0001589	frameshift_variant	0				HGNC	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.3904_3907delACCT	7.37:g.128486157_128486160delACCT	ENSP00000327145:p.Thr1302fs	Somatic	0	33	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T1302fs	ENST00000325888.8	37	c.3904_3907	CCDS43644.1	7																																																																																			-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	ACCT				128486160	1	no_errors	ENST00000325888	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.980:0.983	-	-	128486160	ACCT	-	128486157	7	5	79	1	0	1	0	1	0	0	0	0	5937	159	6	0	3990	0	FLNC	7	128486157	Frame_Shift_Del	DEL	ACCT	TCGA-DX-A6YX-01A-11D-A417-09	6862351	128486157	30652506	24	4421											
RP1L1	94137	genome.wustl.edu	37	chr8	10469906	10469906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcgcctccctcgctggCctcctgctgagaggtctcgg	15	15	1	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:10469906C>T	ENST00000382483.3	-	4	1925	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	568					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)				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)		CCCTCGCTGGCCTCCTGCTGA	0.657																																																	0								ENSG00000183638						56	66	63					8																	10469906		2116	4236	6352	RP1L1	SO:0001583	missense	0			-	HGNC	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.1702G>A	8.37:g.10469906C>T	ENSP00000371923:p.Ala568Thr	Somatic	0	71	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	12	67.57	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A568T	ENST00000382483.3	37	c.1702	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448533	0.43429	.	.	ENSG00000183638	ENST00000382483	T	0.06528	3.29	4.34	-0.551	0.11822	.	3.538250	0.01140	N	0.006183	T	0.05090	0.0136	N	0.24115	0.695	0.09310	N	1	B	0.25486	0.127	B	0.23852	0.049	T	0.38001	-0.9681	10	0.62326	D	0.03	0.8502	1.8857	0.03237	0.3486:0.3592:0.1841:0.1081	.	568	A6NKC6	.	T	568	ENSP00000371923:A568T	ENSP00000371923:A568T	A	-	1	0	RP1L1	10507316	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.756000	0.04777	0.012000	0.14892	0.455000	0.32223	GCC	-	NULL		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	C		-		10469906	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	SNP	0.000	T	T	10469906	C	T	10469906	3	4	79	1	0	0	0	0	1	0	0	0	13541	739	26	2	5504	2	RP1L1	8	10469906	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		10469906	135894116	25	4422											
USP17L2	377630	genome.wustl.edu	37	chr8	11995025	11995025	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtccaactcgggtgcctgGaggcaggggtggtctctctt	15	11	2	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:11995025G>A	ENST00000333796.3	-	1	1561	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	415	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CGGGTGCCTGGAGGCAGGGGT	0.572																																																	0								ENSG00000223443						54	60	58					8																	11995025		1659	3714	5373	USP17L2	SO:0001819	synonymous_variant	0			-	HGNC	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1245C>T	8.37:g.11995025G>A		Somatic	0	130	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	36	62.24		Silent	SNP							pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.L415	ENST00000333796.3	37	c.1245	CCDS43713.1	8																																																																																			-	pfam_HABP4_PAIRBP1-bd		0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	protein_coding	OTTHUMT00000383303.2	G	NM_201402	-		11995025	-1	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	SNP	0.003	A	A	11995025	G	A	11995025	2	1	79	1	0	0	0	0	0	0	0	1	17055	1161	41	2		2	USP17L2	8	11995025	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	1525119	11995025	134368997	26	4423			1	55		3	3	472	G		3.491898e-07
USP17L2	377630	genome.wustl.edu	37	chr8	11995433	11995433	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatcggagaatctcttcaaGacaaggatgaggaccttggc	11	9	2	3	rs75180221		TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:11995433G>T	ENST00000333796.3	-	1	1153	c.837C>A	c.(835-837)gtC>gtA	p.V279V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	279	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ATCTCTTCAAGACAAGGATGA	0.488																																																	0								ENSG00000223443						28	31	30					8																	11995433		1227	2812	4039	USP17L2	SO:0001819	synonymous_variant	0			-	HGNC	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.837C>A	8.37:g.11995433G>T		Somatic	0	124	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	50	42.53		Silent	SNP							pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.V279	ENST00000333796.3	37	c.837	CCDS43713.1	8																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.488	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	protein_coding	OTTHUMT00000383303.2	G	NM_201402	rs75180221		11995433	-1	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	SNP	0.021	T	T	11995433	G	T	11995433	2	4	79	1	0	0	0	0	0	0	0	1	17055	929	33	3		3	USP17L2	8	11995433	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	408	11995433	134368589	27	4424			1	55		3	3	472	G		3.491898e-07
USP17L2	377630	genome.wustl.edu	37	chr8	11995496	11995496	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttggaggccggcgccctctgGagacaaagaccgcaatgata	13	11	1	3			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:11995496G>C	ENST00000333796.3	-	1	1090	c.774C>G	c.(772-774)ctC>ctG	p.L258L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	258	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCGCCCTCTGGAGACAAAGAC	0.498																																																	0								ENSG00000223443						17	22	20					8																	11995496		1033	2414	3447	USP17L2	SO:0001819	synonymous_variant	0			-	HGNC	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.774C>G	8.37:g.11995496G>C		Somatic	0	101	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	45	45.78		Silent	SNP							pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.L258	ENST00000333796.3	37	c.774	CCDS43713.1	8																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.498	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	protein_coding	OTTHUMT00000383303.2	G	NM_201402	-		11995496	-1	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	SNP	0.003	C	C	11995496	G	C	11995496	2	2	79	1	0	0	0	0	0	0	0	1	17055	1161	41	4		4	USP17L2	8	11995496	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	63	11995496	134368526	28	4425			1	55		3	3	472	G		3.491898e-07
KIF13B	23303	genome.wustl.edu	37	chr8	28974507	28974507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcaccgcggagtcccaGgaggcttctgctttcacctg	11	15	2	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:28974507G>A	ENST00000524189.1	-	31	3716	c.3678C>T	c.(3676-3678)tcC>tcT	p.S1226S	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1226					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGGAGTCCCAGGAGGCTTCTG	0.582																																																	0								ENSG00000197892						52	55	54					8																	28974507		1941	4147	6088	KIF13B	SO:0001819	synonymous_variant	0			-	HGNC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3678C>T	8.37:g.28974507G>A		Somatic	0	17	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1226	ENST00000524189.1	37	c.3678	CCDS55217.1	8																																																																																			-	pfam_Kinesin-like		0.582	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	protein_coding	OTTHUMT00000376878.1	G		-		28974507	-1	no_errors	ENST00000524189	ensembl	human	known	74_37	silent	SNP	0.804	A	A	28974507	G	A	28974507	2	1	79	1	0	0	0	0	0	0	0	1	8277	987	35	2		2	KIF13B	8	28974507	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	16979011	28974507	117389515	29	4426											
ASAP1	50807	genome.wustl.edu	37	chr8	131124344	131124344	+	Frame_Shift_Del	DEL	C	C	-													ttctcaaagcccatacctttCccggcgttcctaggaggcag					rs116410358	byFrequency	TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:131124344delC	ENST00000518721.1	-	24	2624	c.2397delG	c.(2395-2397)gggfs	p.G799fs	ASAP1_ENST00000357668.1_Frame_Shift_Del_p.G799fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	799	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.G799G(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCATACCTTTCCCGGCGTTCC	0.547																																																	1	Substitution - coding silent(1)	ovary(1)						ENSG00000153317						124	122	123					8																	131124344		2203	4300	6503	ASAP1	SO:0001589	frameshift_variant	0				HGNC	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2397delG	8.37:g.131124344delC	ENSP00000429900:p.Gly799fs	Somatic	0	88	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B2RNV3	Frame_Shift_Del	DEL							pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.G801fs	ENST00000518721.1	37	c.2397	CCDS6362.1	8																																																																																			-	NULL		0.547	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	protein_coding	OTTHUMT00000380170.1	C	NM_018482			131124344	-1	no_errors	ENST00000357668	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	131124344	C	-	131124344	7	5	79	1	0	1	0	1	0	0	0	0	1010	842	30	0	1020	0	ASAP1	8	131124344	Frame_Shift_Del	DEL	C	TCGA-DX-A6YX-01A-11D-A417-09	102149837	131124344	15239678	30	4427											
TMEM71	137835	genome.wustl.edu	37	chr8	133759251	133759251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaccagttgtcttcacttgGagaagagttgatgtcaccaa	9	9	3	3			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr8:133759251G>A	ENST00000356838.3	-	5	509	c.367C>T	c.(367-369)Cca>Tca	p.P123S	TMEM71_ENST00000377901.4_Missense_Mutation_p.P142S|TMEM71_ENST00000523829.1_Missense_Mutation_p.P142S|TMEM71_ENST00000517538.1_5'Flank	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	142						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTTCACTTGGAGAAGAGTTG	0.418																																																	0								ENSG00000165071						144	126	132					8																	133759251		2203	4300	6503	TMEM71	SO:0001583	missense	0			-	HGNC	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.367C>T	8.37:g.133759251G>A	ENSP00000349296:p.Pro123Ser	Somatic	0	139	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	132	80	61.97	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP							NULL	p.P123S	ENST00000356838.3	37	c.367	CCDS6366.1	8	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769343	0.15983	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000522334	.	.	.	5.46	0.351	0.16042	.	0.682520	0.14718	N	0.302536	T	0.33235	0.0856	M	0.67953	2.075	0.09310	N	1	B;B;B	0.27351	0.176;0.176;0.176	B;B;B	0.26202	0.046;0.046;0.067	T	0.23691	-1.0181	9	0.18710	T	0.47	0.0158	4.7591	0.13099	0.3245:0.1518:0.5237:0.0	.	142;142;123	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	S	142;123;142;45	.	ENSP00000349296:P123S	P	-	1	0	TMEM71	133828433	0.038000	0.19896	0.001000	0.08648	0.136000	0.21042	0.480000	0.22244	0.037000	0.15575	0.313000	0.20887	CCA	-	NULL		0.418	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM71	protein_coding	OTTHUMT00000379591.1	G	NM_144649	-		133759251	-1	no_errors	ENST00000356838	ensembl	human	known	74_37	missense	SNP	0.002	A	A	133759251	G	A	133759251	3	1	79	1	0	0	0	0	1	0	0	0	16207	1174	41	2	487	2	TMEM71	8	133759251	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	2634907	133759251	12604771	31	4428											
GBA2	57704	genome.wustl.edu	37	chr9	35740618	35740618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgtgggttaccgtgGtagctgcctgtgaaggggtc	17	7	0	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr9:35740618G>A	ENST00000378103.3	-	6	1557	c.1034C>T	c.(1033-1035)aCc>aTc	p.T345I	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.T345I|GBA2_ENST00000545786.1_Missense_Mutation_p.T351I	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	345					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTTACCGTGGTAGCTGCCTG	0.592																																																	0								ENSG00000070610						113	89	97					9																	35740618		2203	4300	6503	GBA2	SO:0001583	missense	0			-	HGNC	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1034C>T	9.37:g.35740618G>A	ENSP00000367343:p.Thr345Ile	Somatic	0	42	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	3	88.46	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP							pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.T351I	ENST00000378103.3	37	c.1052	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865930	0.32977	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.66	5.66	0.87406	Beta-glucosidase, GBA2 type, N-terminal (1);	0.125415	0.64402	D	0.000020	T	0.47414	0.1444	N	0.20766	0.605	0.37578	D	0.919686	P;B;B	0.51537	0.946;0.017;0.175	P;B;B	0.51453	0.67;0.009;0.129	T	0.39440	-0.9614	9	0.12766	T	0.61	-19.5581	16.9097	0.86137	0.0:0.0:1.0:0.0	.	351;345;345	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	I	345;345;351	.	ENSP00000367334:T345I	T	-	2	0	GBA2	35730618	0.645000	0.27286	0.996000	0.52242	0.976000	0.68499	2.805000	0.47939	2.676000	0.91093	0.655000	0.94253	ACC	-	pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type		0.592	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	protein_coding	OTTHUMT00000055456.1	G	NM_020944	-		35740618	-1	no_errors	ENST00000545786	ensembl	human	known	74_37	missense	SNP	0.798	A	A	35740618	G	A	35740618	3	1	79	1	0	0	0	0	1	0	0	0	6269	1261	44	2	1797	2	GBA2	9	35740618	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09		35740618	105472813	32	4429											
DCAF10	79269	genome.wustl.edu	37	chr9	37860098	37860098	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaagttcttggtgagAgtgaccacggaaactgcatc	11	11	1	3			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr9:37860098A>T	ENST00000377724.3	+	6	1584	c.1219A>T	c.(1219-1221)Agt>Tgt	p.S407C	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR|DCAF10_ENST00000242323.7_Missense_Mutation_p.S370C	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	407					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TCTTGGTGAGAGTGACCACGG	0.463																																																	0								ENSG00000122741						135	113	121					9																	37860098		2203	4300	6503	DCAF10	SO:0001583	missense	0			-	HGNC	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1219A>T	9.37:g.37860098A>T	ENSP00000366953:p.Ser407Cys	Somatic	0	44	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S407C	ENST00000377724.3	37	c.1219	CCDS6613.2	9	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468965	0.63625	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.73789	-0.4;-0.78	5.9	1.97	0.26223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.043136	0.85682	D	0.000000	T	0.55909	0.1950	N	0.08118	0	0.24955	N	0.991765	B;B	0.32425	0.03;0.371	B;B	0.35971	0.008;0.215	T	0.55075	-0.8197	10	0.66056	D	0.02	.	12.1536	0.54064	0.5338:0.4661:0.0:0.0	.	370;407	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	C	407;370	ENSP00000366953:S407C;ENSP00000242323:S370C	ENSP00000242323:S370C	S	+	1	0	DCAF10	37850098	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.044000	0.49830	0.448000	0.26722	0.533000	0.62120	AGT	-	superfamily_WD40_repeat_dom		0.463	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	protein_coding	OTTHUMT00000052485.2	A	NM_024345	-		37860098	1	no_errors	ENST00000377724	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37860098	A	T	37860098	3	4	79	1	0	0	0	0	1	0	0	0	4263	304	11	5	1241	5	DCAF10	9	37860098	Missense_Mutation	SNP	A	TCGA-DX-A6YX-01A-11D-A417-09	2119480	37860098	103353333	33	4430											
DIP2C	22982	genome.wustl.edu	37	chr10	412231	412231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcaaaggtgttcttgGtcatgccagagaggccatag	11	10	3	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr10:412231G>T	ENST00000280886.6	-	19	2339	c.2252C>A	c.(2251-2253)aCc>aAc	p.T751N	DIP2C_ENST00000540204.1_Missense_Mutation_p.T72N|DIP2C_ENST00000381496.3_Missense_Mutation_p.T644N	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	751						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTGTTCTTGGTCATGCCAGA	0.572																																																	0								ENSG00000151240						147	99	115					10																	412231		2203	4300	6503	DIP2C	SO:0001583	missense	0			-	HGNC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2252C>A	10.37:g.412231G>T	ENSP00000280886:p.Thr751Asn	Somatic	0	70	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B4DPI5|Q5SS78	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.T751N	ENST00000280886.6	37	c.2252	CCDS7054.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900176|4.900176	0.92035|0.92035	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000421992|ENST00000280886;ENST00000381496;ENST00000540204	.|T;T;T	.|0.58652	.|0.32;0.32;0.52	5.35|5.35	5.35|5.35	0.76521|0.76521	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77916|0.77916	0.4202|0.4202	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.60575	.|0.988;0.976	.|D;D	.|0.65323	.|0.93;0.934	T|T	0.80772|0.80772	-0.1233|-0.1233	5|10	.|0.62326	.|D	.|0.03	-34.3622|-34.3622	19.0863|19.0863	0.93204|0.93204	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|72;751	.|B4DPI5;Q9Y2E4	.|.;DIP2C_HUMAN	T|N	219|751;644;72	.|ENSP00000280886:T751N;ENSP00000370907:T644N;ENSP00000443826:T72N	.|ENSP00000280886:T751N	P|T	-|-	1|2	0|0	DIP2C|DIP2C	402231|402231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.869000|9.869000	0.99810|0.99810	2.507000|2.507000	0.84556|0.84556	0.563000|0.563000	0.77884|0.77884	CCA|ACC	-	pfam_AMP-dep_Synth/Lig		0.572	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	protein_coding	OTTHUMT00000046389.1	G	NM_014974	-		412231	-1	no_errors	ENST00000280886	ensembl	human	known	74_37	missense	SNP	1.000	T	T	412231	G	T	412231	3	4	79	1	0	0	0	0	1	0	0	0	4531	1261	44	3	2494	3	DIP2C	10	412231	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09		412231	135122516	34	4431											
ZNF32	7580	genome.wustl.edu	37	chr10	44139630	44139630	+	Frame_Shift_Del	DEL	C	C	-													ttgccatgcagaatacaattCcccctggtgtggaaactctt							TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr10:44139630delC	ENST00000395797.1	-	3	878	c.690delG	c.(688-690)gggfs	p.G230fs	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.G230fs	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	230					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(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GAATACAATTCCCCCTGGTGT	0.522																																																	0								ENSG00000169740						97	95	96					10																	44139630		2203	4300	6503	ZNF32	SO:0001589	frameshift_variant	0				HGNC	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.690delG	10.37:g.44139630delC	ENSP00000379143:p.Gly230fs	Somatic	0	36	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q92951	Frame_Shift_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N231fs	ENST00000395797.1	37	c.690	CCDS7206.1	10																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	protein_coding	OTTHUMT00000047723.1	C	NM_006973			44139630	-1	no_errors	ENST00000374433	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	44139630	C	-	44139630	7	5	79	1	0	1	0	1	0	0	0	0	17845	842	30	0	135	0	ZNF32	10	44139630	Frame_Shift_Del	DEL	C	TCGA-DX-A6YX-01A-11D-A417-09	43727399	44139630	91395117	35	4432											
CTNNA3	29119	genome.wustl.edu	37	chr10	68280512	68280512	+	Frame_Shift_Del	DEL	G	G	-													ttttgggtcttgcagccaaaGcaagtgcagcattaataatc							TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr10:68280512delG	ENST00000433211.2	-	11	1568	c.1394delC	c.(1393-1395)gctfs	p.A465fs	CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.A465fs	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						TGCAGCCAAAGCAAGTGCAGC	0.403																																																	0								ENSG00000183230						129	113	118					10																	68280512		2203	4300	6503	CTNNA3	SO:0001589	frameshift_variant	0				HGNC	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.1394delC	10.37:g.68280512delG	ENSP00000389714:p.Ala465fs	Somatic	0	57	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	4	80.00		Frame_Shift_Del	DEL							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A465fs	ENST00000433211.2	37	c.1394	CCDS7269.1	10																																																																																			-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.403	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	G	NM_013266			68280512	-1	no_errors	ENST00000373744	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	68280512	G	-	68280512	7	5	79	1	0	1	0	1	0	0	0	0	4016	971	34	0	1325	0	CTNNA3	10	68280512	Frame_Shift_Del	DEL	G	TCGA-DX-A6YX-01A-11D-A417-09	24140882	68280512	67254235	36	4433											
ZBTB39	9880	genome.wustl.edu	37	chr12	57398662	57398662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttccttcagcaggttgtTggggtggttggtgctttgca	16	6	1	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr12:57398662T>C	ENST00000300101.2	-	2	125	c.40A>G	c.(40-42)Aac>Gac	p.N14D		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	14					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)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGCAGGTTGTTGGGGTGGTTG	0.527																																																	0								ENSG00000166860						115	104	108					12																	57398662		2203	4299	6502	ZBTB39	SO:0001583	missense	0			-	HGNC	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.40A>G	12.37:g.57398662T>C	ENSP00000300101:p.Asn14Asp	Somatic	0	52	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A7MD38|Q9UD98	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.N14D	ENST00000300101.2	37	c.40	CCDS31839.1	12	.	.	.	.	.	.	.	.	.	.	T	9.615	1.132186	0.21041	.	.	ENSG00000166860	ENST00000300101	T	0.70282	-0.47	5.93	5.93	0.95920	BTB/POZ fold (2);	0.153333	0.64402	D	0.000018	T	0.49609	0.1567	N	0.11651	0.15	0.30355	N	0.78443	P	0.44734	0.842	B	0.33750	0.169	T	0.61168	-0.7117	10	0.72032	D	0.01	-34.0578	14.335	0.66584	0.0:0.0:0.0:1.0	.	14	O15060	ZBT39_HUMAN	D	14	ENSP00000300101:N14D	ENSP00000300101:N14D	N	-	1	0	ZBTB39	55684929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.936000	0.63506	2.271000	0.75665	0.459000	0.35465	AAC	-	superfamily_BTB/POZ_fold		0.527	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	protein_coding	OTTHUMT00000411214.1	T	NM_014830	-		57398662	-1	no_errors	ENST00000300101	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57398662	T	C	57398662	3	2	79	1	0	0	0	0	1	0	0	0	17547	1812	63	5	2102	5	ZBTB39	12	57398662	Missense_Mutation	SNP	T	TCGA-DX-A6YX-01A-11D-A417-09		57398662	76453233	37	4434											
OAS3	4940	genome.wustl.edu	37	chr12	113401152	113401152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccgctgatcccacctggAacgtgggccacggtagctgg	13	15	0	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr12:113401152A>G	ENST00000228928.7	+	10	2298	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	707	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TCCCACCTGGAACGTGGGCCA	0.652																																																	0								ENSG00000111331						13	15	14					12																	113401152		1945	4119	6064	OAS3	SO:0001583	missense	0			-	HGNC	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2119A>G	12.37:g.113401152A>G	ENSP00000228928:p.Asn707Asp	Somatic	0	23	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	Q2HJ14|Q9H3P5	Missense_Mutation	SNP							pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.N707D	ENST00000228928.7	37	c.2119	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581617	0.46006	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.55052	0.54	4.39	3.25	0.37280	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.42154	0.1190	L	0.28115	0.83	0.80722	D	1	B	0.26577	0.153	B	0.37304	0.246	T	0.34551	-0.9824	9	0.59425	D	0.04	.	6.3665	0.21457	0.8868:0.0:0.1132:0.0	.	707	Q9Y6K5	OAS3_HUMAN	D	707;706	ENSP00000228928:N707D	ENSP00000228928:N707D	N	+	1	0	OAS3	111885535	0.999000	0.42202	0.999000	0.59377	0.895000	0.52256	1.870000	0.39529	0.731000	0.32448	0.460000	0.39030	AAC	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.652	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	protein_coding	OTTHUMT00000405920.1	A		-		113401152	1	no_errors	ENST00000228928	ensembl	human	known	74_37	missense	SNP	0.998	G	G	113401152	A	G	113401152	3	3	79	1	0	0	0	0	1	0	0	0	10803	246	9	5	2157	5	OAS3	12	113401152	Missense_Mutation	SNP	A	TCGA-DX-A6YX-01A-11D-A417-09	56002490	113401152	20450743	38	4435											
RGS6	9628	genome.wustl.edu	37	chr14	72924986	72924986	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgttcttacagttgaagcAatacacttggggagccttat	9	8	1	1	rs540336961		TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr14:72924986A>C	ENST00000553530.1	+	5	450	c.243A>C	c.(241-243)gcA>gcC	p.A81A	RGS6_ENST00000434263.2_Silent_p.A12A|RGS6_ENST00000554782.1_5'Flank|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000402788.2_Silent_p.A81A|RGS6_ENST00000407322.4_Silent_p.A81A|RGS6_ENST00000343854.6_Silent_p.A81A|RGS6_ENST00000404301.2_Silent_p.A81A|RGS6_ENST00000406236.4_Silent_p.A81A|RGS6_ENST00000553525.1_Silent_p.A81A|RGS6_ENST00000555571.1_Silent_p.A81A|RGS6_ENST00000355512.6_Silent_p.A81A|RGS6_ENST00000556437.1_Silent_p.A81A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	81	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGTTGAAGCAATACACTTGG	0.453																																					Ovarian(143;1926 2468 21071 48641)												0								ENSG00000182732						124	103	110					14																	72924986		2203	4300	6503	RGS6	SO:0001819	synonymous_variant	0			-	HGNC	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.243A>C	14.37:g.72924986A>C		Somatic	0	68	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP							pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A81	ENST00000553530.1	37	c.243	CCDS9808.1	14																																																																																			-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.453	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	protein_coding	OTTHUMT00000413033.2	A		-		72924986	1	no_errors	ENST00000553525	ensembl	human	known	74_37	silent	SNP	1.000	C	C	72924986	A	C	72924986	2	2	79	1	0	0	0	0	0	0	0	1	13317	117	5	5		5	RGS6	14	72924986	Silent	SNP	A	TCGA-DX-A6YX-01A-11D-A417-09		72924986	34424554	39	4436											
EID1	399694	genome.wustl.edu	37	chr15	49170547	49170552	+	Intron	DEL	GGAGGA	GGAGGA	-													ctcgaggaggaaggcccaatGgaggaggaggaggcccagcc							TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	GGAGGA	GGAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr15:49170547_49170552delGGAGGA	ENST00000332408.4	-	4	1269				EID1_ENST00000560490.1_In_Frame_Del_p.EE39del|SHC4_ENST00000537958.1_5'Flank|EID1_ENST00000530028.2_In_Frame_Del_p.EE61del|SHC4_ENST00000396535.3_5'Flank|EID1_ENST00000558295.1_Intron	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGGCCCAATGGAGGAGGAGGAGGCC	0.694																																																	0								ENSG00000255302																																			EID1	SO:0001627	intron_variant	0				HGNC	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5892TCCTCC>-	15.37:g.49170553_49170558delGGAGGA		Somatic					0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6UXQ3|Q8IYW3	In_Frame_Del	DEL							NULL	p.EE61in_frame_del	ENST00000332408.4	37	c.174_179	CCDS10130.1	15																																																																																			-	NULL		0.694	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID1	protein_coding	OTTHUMT00000254371.1	GGAGGA	NM_203349			49170552	1	no_errors	ENST00000530028	ensembl	human	known	74_37	in_frame_del	DEL	0.957:0.993:0.998:1.000:1.000:1.000	-	-	49170552	GGAGGA	-	49170547	6	5	79	0	1	1	0	1	0	0	0	0	4988	1348	47	0		0	EID1	15	49170547	Intron	DEL	GGAGGA	TCGA-DX-A6YX-01A-11D-A417-09		49170547	53360845	40	4437											
CNOT1	23019	genome.wustl.edu	37	chr16	58572108	58572108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatattaaccaaatgattgCgaattagcagctccacagcc	7	11	0	1	rs185344213		TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr16:58572108C>T	ENST00000317147.5	-	37	5530	c.5198G>A	c.(5197-5199)cGc>cAc	p.R1733H	CNOT1_ENST00000245138.4_Missense_Mutation_p.R584H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1728H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1733					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAATGATTGCGAATTAGCAG	0.388													C|||	1	0.000199681	0	0.0014	5008	,	,		21636	0		0	False		,,,				2504	0																0								ENSG00000125107						103	94	97					16																	58572108		2198	4300	6498	CNOT1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5198G>A	16.37:g.58572108C>T	ENSP00000320949:p.Arg1733His	Somatic	0	51	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP							pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.R1733H	ENST00000317147.5	37	c.5198	CCDS10799.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.548859	0.96488	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T;T	0.17691	2.26;2.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	M	0.76838	2.35	0.80722	D	1	D;P;D	0.89917	0.999;0.702;1.0	D;B;D	0.70716	0.912;0.241;0.97	T	0.38757	-0.9646	10	0.62326	D	0.03	.	19.894	0.96945	0.0:1.0:0.0:0.0	.	584;1733;1728	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1733;584;1728	ENSP00000320949:R1733H;ENSP00000245138:R584H	ENSP00000245138:R584H	R	-	2	0	CNOT1	57129609	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.091000	0.71406	2.700000	0.92200	0.591000	0.81541	CGC	-	NULL		0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	C	NM_016284	rs185344213		58572108	-1	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58572108	C	T	58572108	3	4	79	1	0	0	0	0	1	0	0	0	3619	768	27	1	1984	1	CNOT1	16	58572108	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		58572108	31782645	41	4438											
VPS4A	27183	genome.wustl.edu	37	chr16	69354619	69354619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataacaatgatgggactctGgttcttggagccacaaacat	9	8	2	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr16:69354619G>A	ENST00000254950.11	+	8	954	c.798G>A	c.(796-798)ctG>ctA	p.L266L	COG8_ENST00000564419.1_5'UTR	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGGGACTCTGGTTCTTGGAG	0.567																																																	0								ENSG00000132612						35	39	38					16																	69354619		1981	4162	6143	VPS4A	SO:0001819	synonymous_variant	0			-	HGNC	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.798G>A	16.37:g.69354619G>A		Somatic	0	32	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	1	93.33		Silent	SNP							pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.L266	ENST00000254950.11	37	c.798	CCDS45517.1	16																																																																																			-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.567	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	protein_coding	OTTHUMT00000430563.3	G	NM_013245	-		69354619	1	no_errors	ENST00000254950	ensembl	human	known	74_37	silent	SNP	1.000	A	A	69354619	G	A	69354619	2	1	79	1	0	0	0	0	0	0	0	1	17219	1335	47	2		2	VPS4A	16	69354619	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	10782511	69354619	21000134	42	4439											
MYO15A	51168	genome.wustl.edu	37	chr17	18023164	18023164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccctatgcgccgtacgaCgcgccatacccaccctatga	8	17	0	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr17:18023164C>T	ENST00000205890.5	+	2	1388	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCGTACGACGCGCCATACC	0.607																																																	0								ENSG00000091536						82	93	89					17																	18023164		2034	4177	6211	MYO15A	SO:0001819	synonymous_variant	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1050C>T	17.37:g.18023164C>T		Somatic	0	86	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	7	86.54	B4DFC7	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.D350	ENST00000205890.5	37	c.1050	CCDS42271.1	17																																																																																			-	NULL		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	C	NM_016239	-		18023164	1	no_errors	ENST00000205890	ensembl	human	known	74_37	silent	SNP	0.000	T	T	18023164	C	T	18023164	2	4	79	1	0	0	0	0	0	0	0	1	10065	535	19	1		1	MYO15A	17	18023164	Silent	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		18023164	63172046	43	4440											
TNFAIP1	7126	genome.wustl.edu	37	chr17	26671442	26671442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactcaacgtcctactctAtgagactccccgcgtccccg	7	18	2	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr17:26671442A>G	ENST00000226225.2	+	7	1034	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	POLDIP2_ENST00000003607.4_5'Flank|TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.Y152C	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	256					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTCCTACTCTATGAGACTCCC	0.567																																																	0								ENSG00000109079						58	50	53					17																	26671442		2203	4300	6503	TNFAIP1	SO:0001583	missense	0			-	HGNC		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.767A>G	17.37:g.26671442A>G	ENSP00000226225:p.Tyr256Cys	Somatic	0	51	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	4	84.00	B7Z6M4|Q5TZQ1	Missense_Mutation	SNP							pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.Y256C	ENST00000226225.2	37	c.767	CCDS11227.1	17	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415486	0.62511	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.59224	0.28	5.65	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78961	-0.1997	10	0.87932	D	0	-13.2031	10.6989	0.45915	0.9266:0.0:0.0734:0.0	.	256	Q13829	BACD2_HUMAN	C	256;152	ENSP00000226225:Y256C	ENSP00000226225:Y256C	Y	+	2	0	TNFAIP1	23695569	1.000000	0.71417	0.875000	0.34327	0.400000	0.30750	5.861000	0.69553	1.165000	0.42670	0.533000	0.62120	TAT	-	NULL		0.567	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP1	protein_coding	OTTHUMT00000255681.2	A	NM_021137	-		26671442	1	no_errors	ENST00000226225	ensembl	human	known	74_37	missense	SNP	0.995	G	G	26671442	A	G	26671442	3	3	79	1	0	0	0	0	1	0	0	0	16279	449	16	5	789	5	TNFAIP1	17	26671442	Missense_Mutation	SNP	A	TCGA-DX-A6YX-01A-11D-A417-09	8648278	26671442	54523768	44	4441											
SEZ6	124925	genome.wustl.edu	37	chr17	27284100	27284100	+	Frame_Shift_Del	DEL	G	G	-													ggggggtcactccaatgcgaGgggtgcccaggcacacactt							TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr17:27284100delG	ENST00000317338.12	-	13	3083	c.2655delC	c.(2653-2655)cccfs	p.P885fs	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Frame_Shift_Del_p.P885fs|SEZ6_ENST00000360295.9_Frame_Shift_Del_p.P885fs|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	885	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCCAATGCGAGGGGTGCCCAG	0.617																																																	0								ENSG00000063015						22	24	23					17																	27284100		2050	4181	6231	SEZ6	SO:0001589	frameshift_variant	0				HGNC	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2655delC	17.37:g.27284100delG	ENSP00000312942:p.Pro885fs	Somatic	0	19	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Frame_Shift_Del	DEL							pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S886fs	ENST00000317338.12	37	c.2655	CCDS45639.1	17																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.617	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	protein_coding	OTTHUMT00000397475.3	G				27284100	-1	no_errors	ENST00000317338	ensembl	human	known	74_37	frame_shift_del	DEL	0.714	-	-	27284100	G	-	27284100	7	5	79	1	0	1	0	1	0	0	0	0	14150	987	35	0	362	0	SEZ6	17	27284100	Frame_Shift_Del	DEL	G	TCGA-DX-A6YX-01A-11D-A417-09	612658	27284100	53911110	45	4442											
SCN4A	6329	genome.wustl.edu	37	chr17	62018305	62018305	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcccattctcgtggccataCatcttgctcatggtgttggc	9	12	3	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr17:62018305C>G	ENST00000435607.1	-	24	5413	c.5337G>C	c.(5335-5337)atG>atC	p.M1779I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M1779I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1779					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTGGCCATACATCTTGCTCA	0.637																																																	0								ENSG00000007314						57	62	60					17																	62018305		2145	4242	6387	SCN4A	SO:0001583	missense	0			-	HGNC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5337G>C	17.37:g.62018305C>G	ENSP00000396320:p.Met1779Ile	Somatic	0	23	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.M1779I	ENST00000435607.1	37	c.5337	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	1.152	-0.646433	0.03531	.	.	ENSG00000007314	ENST00000435607	D	0.95756	-3.8	4.23	4.23	0.50019	.	0.483231	0.21618	N	0.071684	D	0.87184	0.6114	N	0.08118	0	0.29296	N	0.868999	B	0.02656	0.0	B	0.01281	0.0	T	0.79727	-0.1682	10	0.54805	T	0.06	.	6.1881	0.20508	0.0:0.7077:0.1911:0.1012	.	1779	P35499	SCN4A_HUMAN	I	1779	ENSP00000396320:M1779I	ENSP00000396320:M1779I	M	-	3	0	SCN4A	59372037	0.996000	0.38824	1.000000	0.80357	0.105000	0.19272	0.377000	0.20552	2.352000	0.79861	0.561000	0.74099	ATG	-	NULL		0.637	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		C	NM_000334	-		62018305	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62018305	C	G	62018305	3	3	79	1	0	0	0	0	1	0	0	0	13928	478	17	4	177	4	SCN4A	17	62018305	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09	34734205	62018305	19176905	46	4443											
SMURF2	64750	genome.wustl.edu	37	chr17	62552085	62552085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacagccattcccattattCgtccaacaaagtggaaatag	6	11	0	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr17:62552085C>T	ENST00000262435.9	-	14	1650	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	488	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			TCCCATTATTCGTCCAACAAA	0.333																																																	0								ENSG00000108854						79	69	72					17																	62552085		2203	4300	6503	SMURF2	SO:0001583	missense	0			-	HGNC	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.1463G>A	17.37:g.62552085C>T	ENSP00000262435:p.Arg488Gln	Somatic	1	165	0.6		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	85	72	54.14	Q52LL1|Q9H260	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R488Q	ENST00000262435.9	37	c.1463	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633616	0.67015	.	.	ENSG00000108854	ENST00000262435	T	0.58506	0.33	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82764	-0.0296	10	0.87932	D	0	.	19.6588	0.95855	0.0:1.0:0.0:0.0	.	488	Q9HAU4	SMUF2_HUMAN	Q	488	ENSP00000262435:R488Q	ENSP00000262435:R488Q	R	-	2	0	SMURF2	59982547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.648000	0.89879	0.563000	0.77884	CGA	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.333	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	protein_coding	OTTHUMT00000445227.1	C	NM_022739	-		62552085	-1	no_errors	ENST00000262435	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62552085	C	T	62552085	3	4	79	1	0	0	0	0	1	0	0	0	14828	884	31	1	807	1	SMURF2	17	62552085	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09	533780	62552085	18643125	47	4444											
ZNRF4	148066	genome.wustl.edu	37	chr19	5456439	5456439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacctgtgtgccatctgcCtggatgagtatgaggagggc	15	9	1	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr19:5456439C>T	ENST00000222033.4	+	1	1014	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	313						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGCCATCTGCCTGGATGAGTA	0.627																																																	0								ENSG00000105428						88	100	96					19																	5456439		2133	4242	6375	ZNRF4	SO:0001819	synonymous_variant	0			-	HGNC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.937C>T	19.37:g.5456439C>T		Somatic	0	21	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	A8K886|O75866	Silent	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L313	ENST00000222033.4	37	c.937	CCDS42475.1	19																																																																																			-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.627	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	protein_coding	OTTHUMT00000450924.1	C	NM_181710	-		5456439	1	no_errors	ENST00000222033	ensembl	human	known	74_37	silent	SNP	0.994	T	T	5456439	C	T	5456439	2	4	79	1	0	0	0	0	0	0	0	1	18221	680	24	2		2	ZNRF4	19	5456439	Silent	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		5456439	53672544	48	4445											
MUC16	94025	genome.wustl.edu	37	chr19	9026241	9026241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacttcctggagccagtgcGacgcatgtcctcctcgtact	10	14	0	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr19:9026241G>A	ENST00000397910.4	-	14	36948	c.36745C>T	c.(36745-36747)Cgc>Tgc	p.R12249C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12251	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GAGCCAGTGCGACGCATGTCC	0.552																																																	0								ENSG00000181143						244	223	230					19																	9026241		2076	4214	6290	MUC16	SO:0001583	missense	0			-	HGNC	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.36745C>T	19.37:g.9026241G>A	ENSP00000381008:p.Arg12249Cys	Somatic	0	78	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	48	15.79	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R12249C	ENST00000397910.4	37	c.36745	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.444	0.450006	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.39056	1.1	2.58	0.112	0.14623	.	.	.	.	.	T	0.29524	0.0736	M	0.71581	2.175	.	.	.	P	0.46277	0.875	B	0.28553	0.091	T	0.39121	-0.9629	8	0.87932	D	0	.	3.3118	0.07020	0.1519:0.0:0.5975:0.2506	.	12249	B5ME49	.	C	12249	ENSP00000381008:R12249C	ENSP00000381008:R12249C	R	-	1	0	MUC16	8887241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.995000	0.01472	0.109000	0.17891	0.195000	0.17529	CGC	-	pfam_SEA_dom,smart_SEA_dom		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9026241	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9026241	G	A	9026241	3	1	79	1	0	0	0	0	1	0	0	0	9975	1058	37	1	7062	1	MUC16	19	9026241	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	3569802	9026241	50102742	49	4446											
MAP3K10	4294	genome.wustl.edu	37	chr19	40721091	40721091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaggccagacactccGgagagccctgggccccccag	12	19	0	2			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr19:40721091G>A	ENST00000253055.3	+	10	3045	c.2757G>A	c.(2755-2757)ccG>ccA	p.P919P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	919					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGACACTCCGGAGAGCCCTG	0.692																																																	0								ENSG00000130758						9	9	9					19																	40721091		2164	4272	6436	MAP3K10	SO:0001819	synonymous_variant	0			-	HGNC	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2757G>A	19.37:g.40721091G>A		Somatic	0	52	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	Q12761|Q14871	Silent	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.P919	ENST00000253055.3	37	c.2757	CCDS12549.1	19																																																																																			-	pirsf_MAPKKK9/10/11		0.692	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	protein_coding	OTTHUMT00000462552.1	G	NM_002446	-		40721091	1	no_errors	ENST00000253055	ensembl	human	known	74_37	silent	SNP	0.001	A	A	40721091	G	A	40721091	2	1	79	1	0	0	0	0	0	0	0	1	9246	1103	39	1		1	MAP3K10	19	40721091	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	31694850	40721091	18407892	50	4447											
LILRB5	10990	genome.wustl.edu	37	chr19	54760408	54760408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcctgcaggggtctcaTagtagcagcggtatcgccct	12	13	1	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chr19:54760408T>G	ENST00000316219.5	-	3	406	c.299A>C	c.(298-300)tAt>tCt	p.Y100S	LILRB5_ENST00000450632.1_Missense_Mutation_p.Y100S|LILRB5_ENST00000449561.2_Missense_Mutation_p.Y100S|LILRB5_ENST00000345866.6_Missense_Mutation_p.Y100S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	100	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGGTCTCATAGTAGCAGCG	0.632																																																	0								ENSG00000105609						166	161	163					19																	54760408		2203	4300	6503	LILRB5	SO:0001583	missense	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.299A>C	19.37:g.54760408T>G	ENSP00000320390:p.Tyr100Ser	Somatic	0	52	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	Q8N760	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Y100S	ENST00000316219.5	37	c.299	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	T	6.517	0.463591	0.12402	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	3.29	-1.67	0.08238	Immunoglobulin-like fold (1);	1.897590	0.02347	N	0.075545	T	0.27697	0.0681	L	0.55743	1.74	0.09310	N	1	P;B;B;D;D	0.67145	0.896;0.314;0.452;0.996;0.965	D;P;P;D;D	0.80764	0.953;0.693;0.558;0.994;0.991	T	0.19910	-1.0291	10	0.62326	D	0.03	.	1.0339	0.01544	0.1539:0.2114:0.154:0.4807	.	100;91;100;100;100	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	S	100	ENSP00000320390:Y100S;ENSP00000414225:Y100S;ENSP00000406478:Y100S;ENSP00000263430:Y100S	ENSP00000320390:Y100S	Y	-	2	0	LILRB5	59452220	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.176000	0.09811	-1.130000	0.02914	-2.085000	0.00377	TAT	-	smart_Ig_sub,smart_Ig_sub2		0.632	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	T		-		54760408	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	SNP	0.000	G	G	54760408	T	G	54760408	3	3	79	1	0	0	0	0	1	0	0	0	8796	1406	49	5	1520	5	LILRB5	19	54760408	Missense_Mutation	SNP	T	TCGA-DX-A6YX-01A-11D-A417-09	14039317	54760408	4368575	51	4448											
MAGEB4	4115	genome.wustl.edu	37	chrX	30260295	30260295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgtgcccgtgagaaaCgccagcggacccgtggtcag	14	14	1	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chrX:30260295C>T	ENST00000378982.2	+	1	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567																																																	0								ENSG00000120289						99	79	86					X																	30260295		2202	4300	6502	MAGEB4	SO:0001583	missense	0			-	HGNC		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.43C>T	X.37:g.30260295C>T	ENSP00000368266:p.Arg15Cys	Somatic	0	46	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R15C	ENST00000378982.2	37	c.43	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126557	0.37533	.	.	ENSG00000120289	ENST00000378982	T	0.06933	3.24	3.22	-1.76	0.08006	Melanoma associated antigen, MAGE, N-terminal (1);	1.576910	0.05036	U	0.475533	T	0.21062	0.0507	M	0.76574	2.34	0.09310	N	1	D	0.57257	0.979	P	0.56865	0.808	T	0.27706	-1.0066	10	0.44086	T	0.13	.	7.626	0.28212	0.0:0.3504:0.0:0.6496	.	15	O15481	MAGB4_HUMAN	C	15	ENSP00000368266:R15C	ENSP00000368266:R15C	R	+	1	0	MAGEB4	30170216	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.801000	0.01743	-0.647000	0.05444	-0.268000	0.10319	CGC	-	pfam_Melanoma_ass_antigen_N		0.567	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	protein_coding	OTTHUMT00000056159.1	C	NM_002367	-		30260295	1	no_errors	ENST00000378982	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30260295	C	T	30260295	3	4	79	1	0	0	0	0	1	0	0	0	9180	536	19	1	45	1	MAGEB4	23	30260295	Missense_Mutation	SNP	C	TCGA-DX-A6YX-01A-11D-A417-09		30260295	125010265	52	4449											
SH3BGRL	6451	genome.wustl.edu	37	chrX	80532631	80532631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagccacaggttacccccTgccacctcagattttcaatg	6	16	2	1			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chrX:80532631T>C	ENST00000373212.5	+	2	452	c.194T>C	c.(193-195)cTg>cCg	p.L65P	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	65					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				GGTTACCCCCTGCCACCTCAG	0.378																																																	0								ENSG00000131171						58	55	56					X																	80532631		2203	4300	6503	SH3BGRL	SO:0001583	missense	0			-	HGNC	AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"SH3 domain binding glutamic acid-rich protein like"			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.194T>C	X.37:g.80532631T>C	ENSP00000362308:p.Leu65Pro	Somatic	0	237	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	80	148	35.09	Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Missense_Mutation	SNP							pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.L65P	ENST00000373212.5	37	c.194	CCDS14449.1	X	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644981	0.47258	.	.	ENSG00000131171	ENST00000373212	T	0.77750	-1.12	5.7	4.52	0.55395	Thioredoxin-like fold (2);	0.069891	0.56097	D	0.000022	D	0.88448	0.6439	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.979;0.998;0.996	D	0.88761	0.3257	10	0.87932	D	0	-3.3786	11.2759	0.49165	0.0:0.0:0.1509:0.8491	.	17;64;65	B0AZV6;D3DTE6;O75368	.;.;SH3L1_HUMAN	P	65	ENSP00000362308:L65P	ENSP00000362308:L65P	L	+	2	0	SH3BGRL	80419287	1.000000	0.71417	0.734000	0.30879	0.289000	0.27227	7.384000	0.79751	0.760000	0.33108	-0.369000	0.07265	CTG	-	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold		0.378	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGRL	protein_coding	OTTHUMT00000057350.1	T	NM_003022	-		80532631	1	no_errors	ENST00000373212	ensembl	human	known	74_37	missense	SNP	0.903	C	C	80532631	T	C	80532631	3	2	79	1	0	0	0	0	1	0	0	0	14249	1580	55	5	200	5	SH3BGRL	23	80532631	Missense_Mutation	SNP	T	TCGA-DX-A6YX-01A-11D-A417-09	50272336	80532631	74737929	53	4450											
LHFPL1	340596	genome.wustl.edu	37	chrX	111914310	111914310	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctccatgcagcaacccagGacagcagctagtgccaccag	9	16	0	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chrX:111914310G>A	ENST00000371968.3	-	2	548	c.309C>T	c.(307-309)gtC>gtT	p.V103V	LHFPL1_ENST00000536453.1_Silent_p.V103V|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	103						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AGCAACCCAGGACAGCAGCTA	0.577																																																	0								ENSG00000182508						82	64	70					X																	111914310		2203	4300	6503	LHFPL1	SO:0001819	synonymous_variant	0			-	HGNC	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.309C>T	X.37:g.111914310G>A		Somatic	0	21	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	A8K1N1|Q496M9|Q496N0|Q6UXU2	Silent	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.V103	ENST00000371968.3	37	c.309	CCDS14562.1	X																																																																																			-	pfam_Lipome_HGMIC_fus_partner-like		0.577	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL1	protein_coding	OTTHUMT00000057947.1	G	NM_178175	-		111914310	-1	no_errors	ENST00000371968	ensembl	human	known	74_37	silent	SNP	1.000	A	A	111914310	G	A	111914310	2	1	79	1	0	0	0	0	0	0	0	1	8766	1161	41	2		2	LHFPL1	23	111914310	Silent	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	31381679	111914310	43356250	54	4451											
RHOXF2	84528	genome.wustl.edu	37	chrX	119293221	119293221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagggcgccgtcggggGgctggagcctggcaacgcgc	18	15	0	0			TCGA-DX-A6YX-01A-11D-A417-09	TCGA-DX-A6YX-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292eef9c-c947-4841-99cc-5f5d183e2f1c	1ca46aad-e03c-417b-9dca-178b183c93c1	g.chrX:119293221G>A	ENST00000371388.3	+	2	570	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	127					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GCCGTCGGGGGGCTGGAGCCT	0.662																																																	0								ENSG00000131721						9	11	10					X																	119293221		2162	4212	6374	RHOXF2	SO:0001583	missense	0			-	HGNC		CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"Homeoboxes / PRD class"	30011	protein-coding gene	gene with protein product	"cancer/testis antigen 107"	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.380G>A	X.37:g.119293221G>A	ENSP00000360441:p.Gly127Glu	Somatic	0	57	0		0.737003630223975				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	64	31.18	Q9BR00	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G127E	ENST00000371388.3	37	c.380	CCDS14594.1	X	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839375	0.32513	.	.	ENSG00000131721	ENST00000371388	D	0.92397	-3.03	1.92	-1.78	0.07957	Homeodomain-related (1);Homeodomain-like (1);	.	.	.	.	D	0.84465	0.5478	N	0.19112	0.55	0.09310	N	1	P	0.41232	0.743	B	0.40602	0.334	T	0.74979	-0.3479	9	0.62326	D	0.03	-0.2643	9.2156	0.37344	0.0:0.6616:0.3384:0.0	.	127	Q9BQY4	RHXF2_HUMAN	E	127	ENSP00000360441:G127E	ENSP00000360441:G127E	G	+	2	0	RHOXF2	119177249	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.069000	0.14552	-0.617000	0.05664	-0.545000	0.04230	GGG	-	superfamily_Homeodomain-like		0.662	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	protein_coding	OTTHUMT00000411977.1	G	NM_032498	-		119293221	1	no_errors	ENST00000371388	ensembl	human	known	74_37	missense	SNP	0.000	A	A	119293221	G	A	119293221	3	1	79	1	0	0	0	0	1	0	0	0	13356	1232	43	2	1269	2	RHOXF2	23	119293221	Missense_Mutation	SNP	G	TCGA-DX-A6YX-01A-11D-A417-09	7378911	119293221	35977339	55	4452											
PIK3CD	5293	genome.wustl.edu	37	chr1	9782110	9782114	+	Frame_Shift_Del	DEL	CAAGG	CAAGG	-													aagacccccaagccccagacCaaggagctgatgcacttgtg							TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	CAAGG	CAAGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:9782110_9782114delCAAGG	ENST00000377346.4	+	17	2328_2332	c.2133_2137delCAAGG	c.(2131-2139)accaaggagfs	p.KE712fs	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.KE736fs|PIK3CD_ENST00000536656.1_Frame_Shift_Del_p.KE736fs	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	712					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGCCCCAGACCAAGGAGCTGATGCA	0.624											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000171608																																			PIK3CD	SO:0001589	frameshift_variant	0				HGNC		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2133_2137delCAAGG	1.37:g.9782110_9782114delCAAGG	ENSP00000366563:p.Lys712fs	Somatic				659	0.469240834679579	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Del	DEL							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K736fs	ENST00000377346.4	37	c.2205_2209	CCDS104.1	1																																																																																			-	superfamily_Kinase-like_dom		0.624	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	protein_coding	OTTHUMT00000004235.1	CAAGG	NM_005026			9782114	1	no_errors	ENST00000536656	ensembl	human	known	74_37	frame_shift_del	DEL	0.944:1.000:1.000:1.000:1.000	-	-	9782114	CAAGG	-	9782110	7	5	80	1	0	1	0	1	0	0	0	0	11917	581	21	0	2191	0	PIK3CD	1	9782110	Frame_Shift_Del	DEL	CAAGG	TCGA-DX-A6YZ-01A-12D-A351-09		9782110	239468511	1	4453											
RSC1A1	6248	genome.wustl.edu	37	chr1	15987514	15987514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaatctgtcaatcagaaaCcatagctgagggccaaacca	8	10	3	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:15987514C>T	ENST00000345034.1	+	1	1151	c.1151C>T	c.(1150-1152)aCc>aTc	p.T384I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	384					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCAGAAACCATAGCTGAG	0.398																																																	0								ENSG00000215695						53	51	52					1																	15987514		2203	4300	6503	RSC1A1	SO:0001583	missense	0			-	HGNC	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1151C>T	1.37:g.15987514C>T	ENSP00000341963:p.Thr384Ile	Somatic	0	33	0		0.469240834679579	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	19	57.78	B2RBP5	Missense_Mutation	SNP							superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T384I	ENST00000345034.1	37	c.1151	CCDS161.1	1	.	.	.	.	.	.	.	.	.	.	C	0.277	-0.989036	0.02162	.	.	ENSG00000215695	ENST00000345034	T	0.23147	1.92	5.29	-2.45	0.06481	.	1.192850	0.06565	N	0.747408	T	0.09335	0.0230	N	0.04508	-0.205	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.28996	-1.0026	10	0.21540	T	0.41	-20.4739	2.2462	0.04032	0.1209:0.2828:0.134:0.4623	.	384	Q92681	RSCA1_HUMAN	I	384	ENSP00000341963:T384I	ENSP00000341963:T384I	T	+	2	0	RSC1A1	15860101	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.813000	0.04491	-0.487000	0.06735	0.563000	0.77884	ACC	-	NULL		0.398	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	protein_coding	OTTHUMT00000145500.1	C	NM_006511	-		15987514	1	no_errors	ENST00000345034	ensembl	human	known	74_37	missense	SNP	0.002	T	T	15987514	C	T	15987514	3	4	80	1	0	0	0	0	1	0	0	0	13706	507	18	2	1153	2	RSC1A1	1	15987514	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	6205404	15987514	233263107	2	4454											
DDR2	4921	genome.wustl.edu	37	chr1	162722976	162722976	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagagtccacagctgcCaaatatggaaggtgaggatg	14	7	1	2	rs374354520		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:162722976C>G	ENST00000367922.3	+	5	612	c.174C>G	c.(172-174)gcC>gcG	p.A58A	DDR2_ENST00000367921.3_Silent_p.A58A	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	58	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)			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)	CCACAGCTGCCAAATATGGAA	0.532																																					NSCLC(161;314 2006 8283 19651 23192)												0								ENSG00000162733	C	,	0,4406		0,0,2203	87	78	81		174,174	4.2	1	1		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DDR2	NM_001014796.1,NM_006182.2	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	58/856,58/856	162722976	1,13005	2203	4300	6503	DDR2	SO:0001819	synonymous_variant	0			-	HGNC	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.174C>G	1.37:g.162722976C>G		Somatic	0	10	0		0.469240834679579	33	26.67	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	Q7Z730	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A58	ENST00000367922.3	37	c.174	CCDS1241.1	1																																																																																			-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.532	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	C	NM_006182	-		162722976	1	no_errors	ENST00000367921	ensembl	human	known	74_37	silent	SNP	1.000	G	G	162722976	C	G	162722976	2	3	80	1	0	0	0	0	0	0	0	1	4339	581	21	4		4	DDR2	1	162722976	Silent	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	146735462	162722976	86527645	3	4455											
PTPRC	5788	genome.wustl.edu	37	chr1	198685831	198685831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaagattgcctcaatctgGataaaaacctgatcaaatat	5	7	3	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:198685831G>T	ENST00000367376.2	+	13	1477	c.1306G>T	c.(1306-1308)Gat>Tat	p.D436Y	PTPRC_ENST00000442510.2_Missense_Mutation_p.D438Y|PTPRC_ENST00000352140.3_Missense_Mutation_p.D388Y|PTPRC_ENST00000594404.1_Missense_Mutation_p.D275Y|PTPRC_ENST00000348564.6_Missense_Mutation_p.D277Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	436	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTCAATCTGGATAAAAACCT	0.303																																																	0								ENSG00000081237						45	48	47					1																	198685831		2202	4295	6497	PTPRC	SO:0001583	missense	0			-	HGNC	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1306G>T	1.37:g.198685831G>T	ENSP00000356346:p.Asp436Tyr	Somatic	0	44	0		0.469240834679579	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP							pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D438Y	ENST00000367376.2	37	c.1312		1	.	.	.	.	.	.	.	.	.	.	G	7.805	0.714405	0.15306	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.58940	0.3	4.43	-8.85	0.00799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	3.349420	0.00604	N	0.000396	T	0.58821	0.2149	L	0.46157	1.445	0.09310	N	1	P;P;B;B;B	0.48764	0.896;0.915;0.283;0.277;0.098	P;P;B;B;B	0.51229	0.532;0.663;0.329;0.325;0.226	T	0.71745	-0.4500	10	0.59425	D	0.04	.	11.4131	0.49937	0.6172:0.2464:0.1364:0.0	.	372;372;277;388;436	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	Y	438;372;388;388;322;436;370;275	ENSP00000193532:D388Y	ENSP00000306782:D275Y	D	+	1	0	PTPRC	196952454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.233000	0.00139	-3.900000	0.00093	-1.223000	0.01593	GAT	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.303	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	protein_coding		G		-		198685831	1	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	SNP	0.000	T	T	198685831	G	T	198685831	3	4	80	1	0	0	0	0	1	0	0	0	12805	1174	41	3	1363	3	PTPRC	1	198685831	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	35962855	198685831	50564790	4	4456											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232601100	232601100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacggctgactttggaaaaGttacacctttgggaatcggt	11	8	0	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:232601100G>T	ENST00000366630.1	-	8	2664	c.2306C>A	c.(2305-2307)aCt>aAt	p.T769N	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T769N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	769	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTGGAAAAGTTACACCTTT	0.428																																																	0								ENSG00000116991						76	77	76					1																	232601100		1903	4157	6060	SIPA1L2	SO:0001583	missense	0			-	HGNC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2306C>A	1.37:g.232601100G>T	ENSP00000355589:p.Thr769Asn	Somatic	0	40	0		0.469240834679579	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.T769N	ENST00000366630.1	37	c.2306	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258680	0.59321	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.95035	-3.59;-3.59	5.91	5.91	0.95273	Rap/ran-GAP (2);	0.048822	0.85682	D	0.000000	D	0.95345	0.8489	M	0.64997	1.995	0.54753	D	0.99998	P	0.38745	0.645	P	0.46419	0.516	D	0.94313	0.7547	10	0.46703	T	0.11	-22.0728	20.2885	0.98538	0.0:0.0:1.0:0.0	.	769	Q9P2F8	SI1L2_HUMAN	N	769	ENSP00000355589:T769N;ENSP00000262861:T769N	ENSP00000262861:T769N	T	-	2	0	SIPA1L2	230667723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	2.791000	0.96007	0.650000	0.86243	ACT	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	G	XM_045839	-		232601100	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	SNP	1.000	T	T	232601100	G	T	232601100	3	4	80	1	0	0	0	0	1	0	0	0	14338	1029	36	3	2922	3	SIPA1L2	1	232601100	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	33915269	232601100	16649521	5	4457											
NRXN1	9378	genome.wustl.edu	37	chr2	50170914	50170914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactctgctgaggccacaaGgatgtcatctgtggtctgca	11	11	4	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:50170914G>A	ENST00000406316.2	-	21	5530	c.4054C>T	c.(4054-4056)Ctt>Ttt	p.L1352F	NRXN1_ENST00000404971.1_Missense_Mutation_p.L1422F|NRXN1_ENST00000406859.3_Missense_Mutation_p.L1352F|NRXN1_ENST00000402717.3_Missense_Mutation_p.L1374F|NRXN1_ENST00000405472.3_Missense_Mutation_p.L1374F|NRXN1_ENST00000401710.1_Missense_Mutation_p.L370F|NRXN1_ENST00000342183.5_Missense_Mutation_p.L317F|NRXN1_ENST00000401669.2_Missense_Mutation_p.L1382F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1352					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)			GAGGCCACAAGGATGTCATCT	0.428																																																	0								ENSG00000179915						65	59	61					2																	50170914		2202	4300	6502	NRXN1	SO:0001583	missense	0			-	HGNC	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.4054C>T	2.37:g.50170914G>A	ENSP00000384311:p.Leu1352Phe	Somatic	0	46	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1374F	ENST00000406316.2	37	c.4120	CCDS54360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.431586|4.431586	0.83776|0.83776	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262	T;T;T;T;T;T;T;T|.	0.72942|.	0.82;2.02;0.02;-0.01;-0.7;-0.6;-0.3;-0.15|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.45361|.	U|.	0.000369|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.72894|0.72894	2.215|2.215	0.41103|0.41103	D|D	0.985689|0.985689	P;P;D;D;D;D|.	0.69078|.	0.952;0.794;0.992;0.996;0.996;0.997|.	P;P;P;D;D;D|.	0.78314|.	0.644;0.637;0.866;0.921;0.934;0.991|.	T|T	0.72697|0.72697	-0.4215|-0.4215	10|5	0.52906|.	T|.	0.07|.	.|.	13.077|13.077	0.59093|0.59093	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	17;1422;317;1352;1374;17|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.	.;.;NRX1B_HUMAN;.;.;.|.	F|L	317;271;370;1422;1352;1374;1382;1423;1374;1352|18	ENSP00000341184:L317F;ENSP00000385580:L370F;ENSP00000385142:L1422F;ENSP00000384311:L1352F;ENSP00000434015:L1374F;ENSP00000385017:L1382F;ENSP00000385434:L1374F;ENSP00000385681:L1352F|.	ENSP00000341184:L317F|.	L|P	-|-	1|2	0|0	NRXN1|NRXN1	50024418|50024418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.830000|4.830000	0.62745|0.62745	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	CTT|CCT	-	NULL		0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	G		-		50170914	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50170914	G	A	50170914	3	1	80	1	0	0	0	0	1	0	0	0	10667	1000	35	2	387	2	NRXN1	2	50170914	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		50170914	193028459	6	4458											
CKAP2L	150468	genome.wustl.edu	37	chr2	113513727	113513727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctgaaagccattattGttatgtttattaccactggt	7	6	0	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:113513727G>A	ENST00000302450.6	-	4	1299	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Silent_p.N242N	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	407						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGCCATTATTGTTATGTTTAT	0.423																																																	0								ENSG00000169607						221	216	218					2																	113513727		2203	4300	6503	CKAP2L	SO:0001819	synonymous_variant	0			-	HGNC	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1221C>T	2.37:g.113513727G>A		Somatic	0	36	0		0.469240834679579	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP							NULL	p.N407	ENST00000302450.6	37	c.1221	CCDS2100.1	2																																																																																			-	NULL		0.423	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	protein_coding	OTTHUMT00000254082.2	G	NM_152515	-		113513727	-1	no_errors	ENST00000302450	ensembl	human	known	74_37	silent	SNP	0.000	A	A	113513727	G	A	113513727	2	1	80	1	0	0	0	0	0	0	0	1	3445	1368	48	2		2	CKAP2L	2	113513727	Silent	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	63342813	113513727	129685646	7	4459											
FMNL2	114793	genome.wustl.edu	37	chr2	153494158	153494158	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctctgtcttctttccTgtctttgtccggtttgtgaa	7	13	4	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:153494158T>C	ENST00000475377.2	+	10	1241	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	FMNL2_ENST00000288670.9_Silent_p.P972P			Q96PY5	FMNL2_HUMAN	formin-like 2	972	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCTTCTTTCCTGTCTTTGTCC	0.423																																																	0								ENSG00000157827						151	146	147					2																	153494158		1899	4119	6018	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1041T>C	2.37:g.153494158T>C		Somatic	0	54	0		0.469240834679579	54	8.33	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	82	9.89	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.P972	ENST00000475377.2	37	c.2916		2																																																																																			-	pfam_FH2_Formin,smart_FH2_Formin		0.423	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	protein_coding	OTTHUMT00000333583.3	T	NM_052905	-		153494158	1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	0.016	C	C	153494158	T	C	153494158	2	2	80	1	0	0	0	0	0	0	0	1	5954	1567	55	5		5	FMNL2	2	153494158	Silent	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	39980431	153494158	89705215	8	4460											
TTC21B	79809	genome.wustl.edu	37	chr2	166805913	166805913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatatcatacctggattagGactcattttatgggcatata	7	6	2	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:166805913G>A	ENST00000243344.7	-	3	390	c.253C>T	c.(253-255)Cct>Tct	p.P85S	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	85					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTGGATTAGGACTCATTTTA	0.313																																																	0								ENSG00000123607						108	120	116					2																	166805913		2202	4297	6499	TTC21B	SO:0001583	missense	0			-	HGNC	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.253C>T	2.37:g.166805913G>A	ENSP00000243344:p.Pro85Ser	Somatic	0	49	0		0.469240834679579	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P85S	ENST00000243344.7	37	c.253	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154097	0.38021	.	.	ENSG00000123607	ENST00000243344	T	0.53857	0.6	5.4	2.21	0.28008	.	0.609533	0.18067	N	0.152756	T	0.29556	0.0737	N	0.17082	0.46	0.80722	D	1	B;B	0.15141	0.012;0.002	B;B	0.14023	0.01;0.002	T	0.06144	-1.0843	10	0.15066	T	0.55	-2.626	6.4645	0.21973	0.2336:0.1415:0.6249:0.0	.	85;85	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	S	85	ENSP00000243344:P85S	ENSP00000243344:P85S	P	-	1	0	TTC21B	166514159	0.999000	0.42202	0.991000	0.47740	0.924000	0.55760	1.037000	0.30241	1.276000	0.44395	0.591000	0.81541	CCT	-	NULL		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	protein_coding	OTTHUMT00000333770.1	G	NM_024753	-		166805913	-1	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	SNP	0.946	A	A	166805913	G	A	166805913	3	1	80	1	0	0	0	0	1	0	0	0	16695	1174	41	2	3805	2	TTC21B	2	166805913	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	13311755	166805913	76393460	9	4461											
CIR1	9541	genome.wustl.edu	37	chr2	175243727	175243727	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattctcgatctgtgttgacAtgaccccatttgtgacattt	7	10	2	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:175243727A>T	ENST00000342016.3	-	7	500	c.408T>A	c.(406-408)caT>caA	p.H136Q	CIR1_ENST00000362053.5_Missense_Mutation_p.H136Q	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	136					mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CTGTGTTGACATGACCCCATT	0.383																																																	0								ENSG00000138433						169	138	149					2																	175243727		2203	4300	6503	CIR1	SO:0001583	missense	0			-	HGNC	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.408T>A	2.37:g.175243727A>T	ENSP00000339723:p.His136Gln	Somatic	0	56	0		0.469240834679579	93	19.13	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	82	17.17	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP							pfam_CIR_N_dom,superfamily_Znf_CCHC	p.H136Q	ENST00000342016.3	37	c.408	CCDS2256.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.965256|3.965256	0.74131|0.74131	.|.	.|.	ENSG00000138433|ENSG00000138433	ENST00000377973|ENST00000342016	.|D	.|0.97811	.|-4.55	5.33|5.33	2.98|2.98	0.34508|0.34508	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98365|0.98365	0.9457|0.9457	M|M	0.85462|0.85462	2.755|2.755	0.43777|0.43777	D|D	0.996304|0.996304	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	D|D	0.98059|0.98059	1.0392|1.0392	5|10	.|0.59425	.|D	.|0.04	.|.	8.3905|8.3905	0.32526|0.32526	0.7716:0.0:0.2284:0.0|0.7716:0.0:0.2284:0.0	.|.	.|136	.|Q86X95	.|CIR1_HUMAN	S|Q	41|136	.|ENSP00000339723:H136Q	.|ENSP00000339723:H136Q	C|H	-|-	1|3	0|2	CIR1|CIR1	174951973|174951973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.134000|1.134000	0.31442|0.31442	0.976000|0.976000	0.38417|0.38417	0.528000|0.528000	0.53228|0.53228	TGT|CAT	-	superfamily_Znf_CCHC		0.383	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	protein_coding	OTTHUMT00000255460.1	A	NM_004882	-		175243727	-1	no_errors	ENST00000342016	ensembl	human	known	74_37	missense	SNP	1.000	T	T	175243727	A	T	175243727	3	4	80	1	0	0	0	0	1	0	0	0	3434	214	8	5	960	5	CIR1	2	175243727	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	8437814	175243727	67955646	10	4462											
TTN	7273	genome.wustl.edu	37	chr2	179604055	179604055	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttattctcaaaataccaattCacctctttagcatttgttat	2	9	3	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:179604055C>A	ENST00000591111.1	-	46	13178	c.12954G>T	c.(12952-12954)gtG>gtT	p.V4318V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.V4464V|TTN_ENST00000589042.1_Silent_p.V4635V|TTN_ENST00000359218.5_Silent_p.V4397V|TTN_ENST00000460472.2_Silent_p.V4272V|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12077	Ig-like 23.				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)			AATACCAATTCACCTCTTTAG	0.378																																																	0								ENSG00000155657						138	123	128					2																	179604055		1897	4119	6016	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.12954G>T	2.37:g.179604055C>A		Somatic	0	35	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	56	17.65	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							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V4464	ENST00000591111.1	37	c.13392		2																																																																																			-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179604055	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179604055	C	A	179604055	2	1	80	1	0	0	0	0	0	0	0	1	16742	813	29	3		3	TTN	2	179604055	Silent	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	4360328	179604055	63595318	11	4463											
FSIP2	401024	genome.wustl.edu	37	chr2	186655562	186655562	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaaatgaaatatttAtctttatttgacgttgatcc	6	4	1	4			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:186655562A>C	ENST00000424728.1	+	16	3699	c.3699A>C	c.(3697-3699)ttA>ttC	p.L1233F	AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.L1322F			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1233										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAATATTTATCTTTATTTG	0.318																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.3699A>C	2.37:g.186655562A>C	ENSP00000401306:p.Leu1233Phe	Somatic	0	29	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.L1322F	ENST00000424728.1	37	c.3966		2	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686229	0.29962	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.61158	0.13;0.14	4.53	0.877	0.19145	.	0.000000	0.40640	N	0.001054	T	0.54240	0.1846	L	0.55990	1.75	0.26152	N	0.980124	.	.	.	.	.	.	T	0.51442	-0.8705	8	0.87932	D	0	.	6.4487	0.21892	0.7086:0.0:0.2914:0.0	.	.	.	.	F	1322;1233;1233	ENSP00000344403:L1322F;ENSP00000401306:L1233F	ENSP00000321903:L1233F	L	+	3	2	FSIP2	186363807	0.998000	0.40836	0.999000	0.59377	0.684000	0.39900	0.553000	0.23391	0.149000	0.19098	0.533000	0.62120	TTA	-	NULL		0.318	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	A	NM_173651	-		186655562	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.998	C	C	186655562	A	C	186655562	3	2	80	1	0	0	0	0	1	0	0	0	6077	446	16	5	4028	5	FSIP2	2	186655562	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	7051507	186655562	56543811	12	4464											
CCK	885	genome.wustl.edu	37	chr3	42299608	42299608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctaggaggggtactcataCtcctcggcactgcgacggcc	12	14	2	0	rs200351516		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:42299608C>A	ENST00000396169.2	-	5	1235	c.330G>T	c.(328-330)gaG>gaT	p.E110D	CCK_ENST00000434608.1_Missense_Mutation_p.E110D|CCK_ENST00000334681.5_Missense_Mutation_p.E110D	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GGTACTCATACTCCTCGGCAC	0.552																																																	0								ENSG00000187094						107	98	101					3																	42299608		2203	4300	6503	CCK	SO:0001583	missense	0			-	HGNC		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"Endogenous ligands"	1569	protein-coding gene	gene with protein product	"prepro-cholecystokinin", "cholecystokinin triacontatriapeptide"	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.330G>T	3.37:g.42299608C>A	ENSP00000379472:p.Glu110Asp	Somatic	0	70	0		0.469240834679579	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	79	19.39		Missense_Mutation	SNP							pfam_Gastrin,smart_Gastrin	p.E110D	ENST00000396169.2	37	c.330	CCDS2696.1	3	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932631	0.52866	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.27104	1.69;1.69;1.69	5.7	1.63	0.23807	Gastrin/cholecystokinin peptide hormone (2);	0.146062	0.64402	N	0.000012	T	0.17323	0.0416	L	0.38953	1.18	0.43499	D	0.995741	B	0.22276	0.067	B	0.25291	0.059	T	0.05699	-1.0869	10	0.40728	T	0.16	-16.2998	5.7631	0.18211	0.0:0.3462:0.4548:0.1991	.	110	P06307	CCKN_HUMAN	D	110	ENSP00000379472:E110D;ENSP00000335657:E110D;ENSP00000409124:E110D	ENSP00000335657:E110D	E	-	3	2	CCK	42274612	0.995000	0.38212	0.999000	0.59377	0.958000	0.62258	0.608000	0.24223	0.634000	0.30469	0.650000	0.86243	GAG	-	pfam_Gastrin,smart_Gastrin		0.552	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCK	protein_coding	OTTHUMT00000343380.1	C	NM_000729	-		42299608	-1	no_errors	ENST00000334681	ensembl	human	known	74_37	missense	SNP	0.998	A	A	42299608	C	A	42299608	3	1	80	1	0	0	0	0	1	0	0	0	2881	564	20	3	21	3	CCK	3	42299608	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		42299608	155722822	13	4465											
BSN	8927	genome.wustl.edu	37	chr3	49679989	49679989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggtgtctcctcagccccctCaacccaccaagccttccaca	6	20	3	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:49679989C>G	ENST00000296452.4	+	3	1036	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	308					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)		TCAGCCCCCTCAACCCACCAA	0.697																																																	0								ENSG00000164061						12	14	14					3																	49679989		2195	4287	6482	BSN	SO:0001583	missense	0			-	HGNC	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.922C>G	3.37:g.49679989C>G	ENSP00000296452:p.Gln308Glu	Somatic	0	29	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	O43161|Q7LGH3	Missense_Mutation	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q308E	ENST00000296452.4	37	c.922	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880830	0.17467	.	.	ENSG00000164061	ENST00000296452	T	0.18016	2.24	4.74	3.87	0.44632	.	0.885835	0.09407	N	0.806401	T	0.12347	0.0300	L	0.34521	1.04	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.02654	T	1	.	11.319	0.49410	0.0:0.9142:0.0:0.0858	.	308	Q9UPA5	BSN_HUMAN	E	308	ENSP00000296452:Q308E	ENSP00000296452:Q308E	Q	+	1	0	BSN	49654993	0.000000	0.05858	0.991000	0.47740	0.941000	0.58515	0.521000	0.22893	1.109000	0.41680	0.462000	0.41574	CAA	-	NULL		0.697	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	C	NM_003458	-		49679989	1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	0.320	G	G	49679989	C	G	49679989	3	3	80	1	0	0	0	0	1	0	0	0	1532	827	29	4	932	4	BSN	3	49679989	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	7380381	49679989	148342441	14	4466											
DNAH1	25981	genome.wustl.edu	37	chr3	52412622	52412622	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcctattcccccagctggGgccccccacattgcccactt	6	20	1	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:52412622G>C	ENST00000420323.2	+	47	7464	c.7203G>C	c.(7201-7203)ggG>ggC	p.G2401G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2401	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCAGCTGGGGCCCCCCACA	0.632																																																	0								ENSG00000114841						83	93	89					3																	52412622		1962	4155	6117	DNAH1	SO:0001819	synonymous_variant	0			-	HGNC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7203G>C	3.37:g.52412622G>C		Somatic	0	78	0		0.469240834679579	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	113	18.12	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.G2401	ENST00000420323.2	37	c.7203	CCDS46842.1	3																																																																																			-	superfamily_P-loop_NTPase		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	protein_coding	OTTHUMT00000350816.1	G	NM_015512	-		52412622	1	no_errors	ENST00000420323	ensembl	human	known	74_37	silent	SNP	0.784	C	C	52412622	G	C	52412622	2	2	80	1	0	0	0	0	0	0	0	1	4599	1219	43	4		4	DNAH1	3	52412622	Silent	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	2732633	52412622	145609808	15	4467											
OR5H6	79295	genome.wustl.edu	37	chr3	97983472	97983472	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctctctctgaatgcatggTacaatttttttcccttgtaa	5	9	2	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:97983472T>A	ENST00000383696.2	+	1	385	c.344T>A	c.(343-345)gTa>gAa	p.V115E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAATGCATGGTACAATTTTTT	0.388																																																	0								ENSG00000230301						110	100	103					3																	97983472		2203	4300	6503	OR5H6	SO:0001583	missense	0			-	HGNC	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.344T>A	3.37:g.97983472T>A	ENSP00000373196:p.Val115Glu	Somatic	0	52	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	67	21.18	Q6IF88	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V115E	ENST00000383696.2	37	c.344	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	9.387	1.074428	0.20227	.	.	ENSG00000230301	ENST00000383696	T	0.03152	4.03	2.19	-1.75	0.08031	GPCR, rhodopsin-like superfamily (1);	0.545744	0.16469	N	0.213054	T	0.06645	0.0170	M	0.79258	2.445	0.09310	N	1	B	0.30584	0.286	B	0.37015	0.239	T	0.21280	-1.0250	10	0.72032	D	0.01	.	6.6505	0.22959	0.0:0.493:0.0:0.507	.	115	Q8NGV6	OR5H6_HUMAN	E	115	ENSP00000373196:V115E	ENSP00000373196:V115E	V	+	2	0	OR5H6	99466162	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	-0.775000	0.04679	-0.243000	0.09653	0.163000	0.16589	GTA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.388	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	protein_coding	OTTHUMT00000359111.2	T		-		97983472	1	no_errors	ENST00000383696	ensembl	human	known	74_37	missense	SNP	0.010	A	A	97983472	T	A	97983472	3	1	80	1	0	0	0	0	1	0	0	0	11165	1638	57	5	346	5	OR5H6	3	97983472	Missense_Mutation	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	45570850	97983472	100038958	16	4468											
PIK3CB	5291	genome.wustl.edu	37	chr3	138461596	138461596	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcatttacttcaggaTccttcaaggaatcaaattca	5	8	5	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:138461596T>A	ENST00000477593.1	-	4	498	c.425A>T	c.(424-426)gAt>gTt	p.D142V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D142V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	142					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)	TACTTCAGGATCCTTCAAGGA	0.328																																																	0								ENSG00000051382						72	71	72					3																	138461596		2202	4300	6502	PIK3CB	SO:0001583	missense	0			-	HGNC		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.425A>T	3.37:g.138461596T>A	ENSP00000418143:p.Asp142Val	Somatic	0	33	0		0.469240834679579	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00	D3DNF0|Q24JU2	Missense_Mutation	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D142V	ENST00000477593.1	37	c.425	CCDS3104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.1|26.1	4.701509|4.701509	0.88924|0.88924	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000462294	T;T|.	0.51071|.	0.72;0.72|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73659|0.73659	0.3615|0.3615	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	P|.	0.59115|.	0.852|.	T|T	0.72646|0.72646	-0.4230|-0.4230	10|5	0.72032|.	D|.	0.01|.	-21.2554|-21.2554	16.5311|16.5311	0.84359|0.84359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	142|.	P42338|.	PK3CB_HUMAN|.	V|F	142|10	ENSP00000418143:D142V;ENSP00000289153:D142V|.	ENSP00000289153:D142V|.	D|I	-|-	2|1	0|0	PIK3CB|PIK3CB	139944286|139944286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.660000|6.660000	0.74417|0.74417	2.306000|2.306000	0.77630|0.77630	0.482000|0.482000	0.46254|0.46254	GAT|ATC	-	NULL		0.328	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	protein_coding	OTTHUMT00000358019.1	T		-		138461596	-1	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138461596	T	A	138461596	3	1	80	1	0	0	0	0	1	0	0	0	11916	1435	50	5	2865	5	PIK3CB	3	138461596	Missense_Mutation	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	40478124	138461596	59560834	17	4469											
HOPX	84525	genome.wustl.edu	37	chr4	57516895	57516895	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaatcgaaagccaagcaCggcagactatcatgggggta	12	8	1	1	rs141906115		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:57516895C>T	ENST00000337881.7	-	3	801				HOPX_ENST00000381255.3_Intron|HOPX_ENST00000508121.1_Intron|HOPX_ENST00000317745.7_Intron|HOPX_ENST00000556614.2_Intron|HOPX_ENST00000556376.2_Intron|HOPX_ENST00000381260.3_Silent_p.P76P|HOPX_ENST00000553379.2_Intron|HOPX_ENST00000420433.1_Intron|HOPX_ENST00000503639.3_Intron|HOPX_ENST00000554144.1_Silent_p.P94P|HOPX_ENST00000555760.2_Intron	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AAGCCAAGCACGGCAGACTAT	0.458													C|||	1	0.000199681	0	0	5008	,	,		19327	0		0.001	False		,,,				2504	0																0								ENSG00000171476						76	69	71					4																	57516895		692	1591	2283	HOPX	SO:0001627	intron_variant	0			GMAF=0.0005	HGNC		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.145-1932G>A	4.37:g.57516895C>T		Somatic	0	43	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP							superfamily_Homeodomain-like	p.P94	ENST00000337881.7	37	c.282	CCDS3507.1	4																																																																																			-	NULL		0.458	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	protein_coding	OTTHUMT00000250689.4	C		rs141906115		57516895	-1	no_errors	ENST00000554144	ensembl	human	known	74_37	silent	SNP	0.000	T	T	57516895	C	T	57516895	1	4	80	0	1	0	0	0	0	0	0	0	7287	523	19	1		1	HOPX	4	57516895	Intron	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		57516895	133637381	18	4470											
EPHA5	2044	genome.wustl.edu	37	chr4	66509122	66509122	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatcccaggtcccccatgaCagtgcgtgaatccaataaat	7	14	0	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:66509122C>G	ENST00000273854.3	-	2	805	c.205G>C	c.(205-207)Gtc>Ctc	p.V69L	EPHA5_ENST00000511294.1_Missense_Mutation_p.V69L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V69L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V69L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCCCCATGACAGTGCGTGAA	0.313										TSP Lung(17;0.13)																																							0								ENSG00000145242						54	55	54					4																	66509122		2203	4299	6502	EPHA5	SO:0001583	missense	0			-	HGNC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.205G>C	4.37:g.66509122C>G	ENSP00000273854:p.Val69Leu	Somatic	0	101	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	111	15.91	Q7Z3F2	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V69L	ENST00000273854.3	37	c.205	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376855	0.82682	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.49916	D	0.000137	T	0.09113	0.0225	M	0.61703	1.905	0.51012	D	0.999901	B;B;B;P	0.45957	0.237;0.425;0.313;0.869	B;B;B;P	0.44359	0.22;0.3;0.14;0.447	T	0.03957	-1.0989	10	0.44086	T	0.13	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	69;69;69;69	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	69	ENSP00000273854:V69L;ENSP00000389208:V69L;ENSP00000346899:V69L;ENSP00000427638:V69L	ENSP00000273854:V69L	V	-	1	0	EPHA5	66191717	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.151000	0.71806	2.749000	0.94314	0.460000	0.39030	GTC	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.313	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	protein_coding	OTTHUMT00000251388.2	C	NM_004439	-		66509122	-1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	SNP	1.000	G	G	66509122	C	G	66509122	3	3	80	1	0	0	0	0	1	0	0	0	5172	478	17	4	2976	4	EPHA5	4	66509122	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	8992227	66509122	124645154	19	4471											
FGA	2243	genome.wustl.edu	37	chr4	155507582	155507582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctcccagagttccaGcttccagtacttccaggtcc	8	16	0	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:155507582G>C	ENST00000302053.3	-	5	1077	c.999C>G	c.(997-999)agC>agG	p.S333R	FGA_ENST00000403106.3_Missense_Mutation_p.S333R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	333					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGAGTTCCAGCTTCCAGTAC	0.567																																					NSCLC(143;340 1922 20892 22370 48145)												0								ENSG00000171560						90	98	95					4																	155507582		2203	4300	6503	FGA	SO:0001583	missense	0			-	HGNC		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.999C>G	4.37:g.155507582G>C	ENSP00000306361:p.Ser333Arg	Somatic	0	43	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	76	18.28	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S333R	ENST00000302053.3	37	c.999	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	G	9.130	1.011158	0.19277	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.82711	-1.64;-1.64	4.95	-7.88	0.01178	.	60.353500	0.00166	N	0.000001	T	0.70780	0.3263	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.18561	0.022;0.0	T	0.60372	-0.7276	10	0.51188	T	0.08	.	10.7526	0.46217	0.3257:0.1118:0.5625:0.0	.	333;333	P02671-2;P02671	.;FIBA_HUMAN	R	333	ENSP00000306361:S333R;ENSP00000385981:S333R	ENSP00000306361:S333R	S	-	3	2	FGA	155727032	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.064000	0.03461	-1.597000	0.01609	-0.894000	0.02916	AGC	-	NULL		0.567	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	protein_coding	OTTHUMT00000317593.1	G	NM_000508	-		155507582	-1	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	SNP	0.000	C	C	155507582	G	C	155507582	3	2	80	1	0	0	0	0	1	0	0	0	5832	962	34	4	1653	4	FGA	4	155507582	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	88998460	155507582	35646694	20	4472											
ACCN5	51802	genome.wustl.edu	37	chr4	156784866	156784866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagtgggagatggcagTggtttctttgaaaggcaaag	15	6	2	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:156784866T>C	ENST00000537611.2	-	2	127	c.81A>G	c.(79-81)ccA>ccG	p.P27P	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	27					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GAGATGGCAGTGGTTTCTTTG	0.373																																																	0								ENSG00000256394						102	103	103					4																	156784866		2203	4300	6503	ASIC5	SO:0001819	synonymous_variant	0			-	HGNC	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.81A>G	4.37:g.156784866T>C		Somatic	0	52	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	70	17.65		Silent	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC	p.P27	ENST00000537611.2	37	c.81	CCDS3793.1	4																																																																																			-	NULL		0.373	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	protein_coding	OTTHUMT00000366464.1	T		-		156784866	-1	no_errors	ENST00000537611	ensembl	human	known	74_37	silent	SNP	0.012	C	C	156784866	T	C	156784866	2	2	80	1	0	0	0	0	0	0	0	1	132	1683	59	5		5	ACCN5	4	156784866	Silent	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	1277284	156784866	34369410	21	4473											
CTNND2	1501	genome.wustl.edu	37	chr5	10973707	10973707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtactcgctggcgggagggCgatggtggacctggtcctcg	18	10	0	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr5:10973707C>T	ENST00000304623.8	-	22	3725	c.3536G>A	c.(3535-3537)cGc>cAc	p.R1179H	CTNND2_ENST00000511377.1_Missense_Mutation_p.R1088H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.R746H|CTNND2_ENST00000359640.2_Missense_Mutation_p.R1121H|CTNND2_ENST00000503622.1_Missense_Mutation_p.R842H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1179					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCGGGAGGGCGATGGTGGAC	0.532																																																	0								ENSG00000169862						139	119	126					5																	10973707		2203	4300	6503	CTNND2	SO:0001583	missense	0			-	HGNC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3536G>A	5.37:g.10973707C>T	ENSP00000307134:p.Arg1179His	Somatic	0	60	0		0.469240834679579	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	93	12.15	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1179H	ENST00000304623.8	37	c.3536	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808875	0.70797	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78816	-1.07;-1.15;-1.07;-1.21;-1.2	5.93	5.93	0.95920	.	0.184770	0.46145	D	0.000316	T	0.69851	0.3157	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.979;0.979;0.996	P;P;P	0.48270	0.556;0.556;0.572	T	0.75599	-0.3262	10	0.56958	D	0.05	-21.0892	20.3368	0.98748	0.0:1.0:0.0:0.0	.	842;771;1179	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	1179;1121;1088;274;746;842	ENSP00000307134:R1179H;ENSP00000352661:R1121H;ENSP00000426510:R1088H;ENSP00000391155:R746H;ENSP00000426887:R842H	ENSP00000307134:R1179H	R	-	2	0	CTNND2	11026707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.805000	0.96524	0.655000	0.94253	CGC	-	NULL		0.532	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	C	NM_001332	-		10973707	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10973707	C	T	10973707	3	4	80	1	0	0	0	0	1	0	0	0	4022	768	27	1	145	1	CTNND2	5	10973707	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		10973707	169941553	22	4474											
SLC4A9	83697	genome.wustl.edu	37	chr5	139751133	139751133	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccagggtccacctcttcaCagccatccagcttgcctgtc	8	17	2	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr5:139751133C>G	ENST00000230993.6	+	19	2701	c.2666C>G	c.(2665-2667)aCa>aGa	p.T889R	SLC4A9_ENST00000506545.1_Missense_Mutation_p.T802R|SLC4A9_ENST00000507527.1_Missense_Mutation_p.T889R|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000506757.2_Missense_Mutation_p.T865R|SLC4A9_ENST00000432095.2_Missense_Mutation_p.T851R	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	889	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTCTTCACAGCCATCCAG	0.547																																																	0								ENSG00000113073						136	139	138					5																	139751133		2064	4226	6290	SLC4A9	SO:0001583	missense	0			-	HGNC	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2666C>G	5.37:g.139751133C>G	ENSP00000230993:p.Thr889Arg	Somatic	0	25	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T889R	ENST00000230993.6	37	c.2666	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663384	0.88251	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.09	5.09	0.68999	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.93831	0.8027	H	0.94385	3.53	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;0.999;0.999;0.999	D	0.95235	0.8346	10	0.87932	D	0	.	18.6839	0.91557	0.0:1.0:0.0:0.0	.	802;889;851;865	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	R	889;865;851;802;889	ENSP00000230993:T889R;ENSP00000424424:T865R;ENSP00000410056:T851R;ENSP00000422855:T802R;ENSP00000427661:T889R	ENSP00000230993:T889R	T	+	2	0	SLC4A9	139731317	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.644000	0.83416	2.660000	0.90430	0.643000	0.83706	ACA	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	C	NM_031467	-		139751133	1	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	SNP	1.000	G	G	139751133	C	G	139751133	3	3	80	1	0	0	0	0	1	0	0	0	14668	478	17	4	2668	4	SLC4A9	5	139751133	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	128777426	139751133	41164127	23	4475											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347067	140347067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcatcccagcccgctcggGtacggcacagatctctgtgc	13	15	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr5:140347067G>T	ENST00000289269.5	+	1	1248	c.716G>T	c.(715-717)gGt>gTt	p.G239V	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	239	Cadherin 2. {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(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCGGGTACGGCACAG	0.622																																					Melanoma(190;638 2083 3390 11909 52360)												0								ENSG00000243232						60	59	59					5																	140347067		2203	4300	6503	PCDHAC2	SO:0001583	missense	0			-	HGNC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.716G>T	5.37:g.140347067G>T	ENSP00000289269:p.Gly239Val	Somatic	0	30	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G239V	ENST00000289269.5	37	c.716	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371588	0.61624	.	.	ENSG00000243232	ENST00000289269	T	0.55413	0.52	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000643	T	0.80849	0.4702	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.98	D	0.86107	0.1560	10	0.87932	D	0	.	16.1595	0.81693	0.0:0.1332:0.8668:0.0	.	239;239	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	V	239	ENSP00000289269:G239V	ENSP00000289269:G239V	G	+	2	0	PCDHAC2	140327251	1.000000	0.71417	0.961000	0.40146	0.919000	0.55068	6.532000	0.73825	2.713000	0.92767	0.561000	0.74099	GGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	protein_coding	OTTHUMT00000251802.2	G	NM_018899	-		140347067	1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140347067	G	T	140347067	3	4	80	1	0	0	0	0	1	0	0	0	11535	1261	44	3	718	3	PCDHAC2	5	140347067	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	595934	140347067	40568193	24	4476											
TFAP2D	83741	genome.wustl.edu	37	chr6	50696680	50696680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctgaggtaaagaggcGcctctccccacctgagtgcc	11	14	1	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr6:50696680G>A	ENST00000008391.3	+	4	938	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473																																																	0								ENSG00000008197						105	103	104					6																	50696680		2203	4300	6503	TFAP2D	SO:0001583	missense	0			-	HGNC	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.710G>A	6.37:g.50696680G>A	ENSP00000008391:p.Arg237His	Somatic	0	37	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31		Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C	p.R237H	ENST00000008391.3	37	c.710	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.511803	0.96402	.	.	ENSG00000008197	ENST00000008391	D	0.99042	-5.36	5.97	5.97	0.96955	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99320	1.0906	10	0.62326	D	0.03	-16.1487	20.4387	0.99107	0.0:0.0:1.0:0.0	.	237	Q7Z6R9	AP2D_HUMAN	H	237	ENSP00000008391:R237H	ENSP00000008391:R237H	R	+	2	0	TFAP2D	50804639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGC	-	pfam_TF_AP2_C		0.473	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	protein_coding	OTTHUMT00000040881.1	G	NM_172238	-		50696680	1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50696680	G	A	50696680	3	1	80	1	0	0	0	0	1	0	0	0	15797	1087	38	1	724	1	TFAP2D	6	50696680	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		50696680	120418387	25	4477											
EYS	346007	genome.wustl.edu	37	chr6	64791889	64791889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagatggaaagaataaaCctgcatctaaaaaagaaaat	7	4	1	4			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr6:64791889C>A	ENST00000370621.3	-	32	6957	c.6431G>T	c.(6430-6432)gGt>gTt	p.G2144V	EYS_ENST00000370616.2_Missense_Mutation_p.G2144V|EYS_ENST00000503581.1_Missense_Mutation_p.G2144V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2144					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAAGAATAAACCTGCATCTAA	0.313																																																	0								ENSG00000188107						51	43	45					6																	64791889		692	1582	2274	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6431G>T	6.37:g.64791889C>A	ENSP00000359655:p.Gly2144Val	Somatic	0	42	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	99	9.17	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G2144V	ENST00000370621.3	37	c.6431		6	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569850	0.28003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;D;D	0.81579	-1.49;-1.51;-1.51	5.42	-10.8	0.00216	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.29028	0.0721	N	0.16233	0.39	0.09310	N	1	B;B	0.16802	0.019;0.003	B;B	0.12156	0.007;0.002	T	0.11131	-1.0600	9	0.13470	T	0.59	.	3.4773	0.07589	0.1474:0.1058:0.2309:0.5159	.	2144;2144	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	V	2144	ENSP00000424243:G2144V;ENSP00000359655:G2144V;ENSP00000359650:G2144V	ENSP00000359650:G2144V	G	-	2	0	EYS	64849848	0.000000	0.05858	0.000000	0.03702	0.411000	0.31082	-0.112000	0.10791	-2.400000	0.00579	-0.311000	0.09066	GGT	-	superfamily_ConA-like_lec_gl_sf		0.313	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		64791889	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.000	A	A	64791889	C	A	64791889	3	1	80	1	0	0	0	0	1	0	0	0	5334	507	18	3	3051	3	EYS	6	64791889	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	14095209	64791889	106323178	26	4478											
GCK	2645	genome.wustl.edu	37	chr7	44189417	44189417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcaggagatcatcgtggcCaccgtgtcattcaccattgc	10	12	3	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:44189417C>A	ENST00000403799.3	-	6	1090	c.621G>T	c.(619-621)gtG>gtT	p.V207V	GCK_ENST00000395796.3_Silent_p.V206V|GCK_ENST00000345378.2_Silent_p.V208V|GCK_ENST00000437084.1_Silent_p.V190V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	207	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCATCGTGGCCACCGTGTCAT	0.567																																																	0								ENSG00000106633						168	139	149					7																	44189417		2203	4300	6503	GCK	SO:0001819	synonymous_variant	0			-	HGNC	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.621G>T	7.37:g.44189417C>A		Somatic	0	33	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	A4D2J2|A4D2J3|Q05810	Silent	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.V208	ENST00000403799.3	37	c.624	CCDS5479.1	7																																																																																			-	pfam_Hexokinase_N,prints_Hexokinase		0.567	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	protein_coding	OTTHUMT00000251069.2	C		-		44189417	-1	no_errors	ENST00000345378	ensembl	human	known	74_37	silent	SNP	1.000	A	A	44189417	C	A	44189417	2	1	80	1	0	0	0	0	0	0	0	1	6295	581	21	3		3	GCK	7	44189417	Silent	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		44189417	114949246	27	4479											
TAS2R39	259285	genome.wustl.edu	37	chr7	142881433	142881433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctaccctgccagccacTcaattctactgattcaagat	5	15	3	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:142881433T>A	ENST00000446620.1	+	1	922	c.922T>A	c.(922-924)Tca>Aca	p.S308T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	308					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGCCAGCCACTCAATTCTACT	0.478																																																	0								ENSG00000236398						49	48	48					7																	142881433		1890	4115	6005	TAS2R39	SO:0001583	missense	0			-	HGNC	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.922T>A	7.37:g.142881433T>A	ENSP00000405095:p.Ser308Thr	Somatic	0	33	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP							pfam_TAS2_rcpt	p.S308T	ENST00000446620.1	37	c.922	CCDS47729.1	7	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964782	0.34659	.	.	ENSG00000236398	ENST00000446620	T	0.37411	1.2	4.8	4.8	0.61643	.	.	.	.	.	T	0.62853	0.2462	M	0.87097	2.86	0.27749	N	0.9442	D	0.89917	1.0	D	0.79108	0.992	T	0.59236	-0.7492	9	0.59425	D	0.04	.	10.5402	0.45029	0.1444:0.0:0.0:0.8556	.	308	P59534	T2R39_HUMAN	T	308	ENSP00000405095:S308T	ENSP00000405095:S308T	S	+	1	0	TAS2R39	142591555	0.258000	0.24033	0.138000	0.22173	0.022000	0.10575	1.450000	0.35134	2.156000	0.67533	0.528000	0.53228	TCA	-	pfam_TAS2_rcpt		0.478	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R39	protein_coding	OTTHUMT00000327090.2	T	NM_176881	-		142881433	1	no_errors	ENST00000446620	ensembl	human	known	74_37	missense	SNP	0.769	A	A	142881433	T	A	142881433	3	1	80	1	0	0	0	0	1	0	0	0	15583	1551	54	5	924	5	TAS2R39	7	142881433	Missense_Mutation	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	98692016	142881433	16257230	28	4480											
NOS3	4846	genome.wustl.edu	37	chr7	150691049	150691049	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaccagcgccagaacacaGgtaagggccaggcagctagg	13	14	0	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:150691049G>T	ENST00000484524.1	+	1	158	c.158G>T	c.(157-159)aGc>aTc	p.S53I	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Splice_Site_p.S53I|NOS3_ENST00000467517.1_Splice_Site_p.S53I	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	47					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGAACACAGGTAAGGGCCA	0.682																																																	0								ENSG00000164867						9	10	10					7																	150691049		2117	4195	6312	NOS3	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.158+1G>T	7.37:g.150691049G>T		Somatic	0	70	0		0.469240834679579	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	102	11.97	Q495E5	Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S53I	ENST00000484524.1	37	c.158	CCDS55182.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.08|16.08	3.021963|3.021963	0.54576|0.54576	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000484576|ENST00000297494;ENST00000484524;ENST00000467517	.|T;T;T	.|0.15017	.|4.64;2.88;2.46	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|2.843040	.|0.01521	.|N	.|0.018356	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.08118|0.08118	0|0	0.42193|0.42193	D|D	0.991736|0.991736	.|D;D;D;D	.|0.61697	.|0.99;0.99;0.99;0.972	.|D;D;D;P	.|0.66497	.|0.944;0.944;0.944;0.766	T|T	0.13602|0.13602	-1.0503|-1.0503	6|10	0.72032|0.40728	D|T	0.01|0.16	.|.	14.2007|14.2007	0.65703|0.65703	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|53;53;53;53	.|A0S0A6;E9PFR2;A0S0A8;P29474	.|.;.;.;NOS3_HUMAN	M|I	53|53	.|ENSP00000297494:S53I;ENSP00000420215:S53I;ENSP00000420551:S53I	ENSP00000418338:R53M|ENSP00000297494:S53I	R|S	+|+	2|2	0|0	NOS3|NOS3	150321982|150321982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	4.827000|4.827000	0.62723|0.62723	2.422000|2.422000	0.82143|0.82143	0.579000|0.579000	0.79373|0.79373	AGG|AGC	-	pirsf_NOS_euk		0.682	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000351550.1	G	NM_000603	-	Missense_Mutation	150691049	1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150691049	G	T	150691049	5	4	80	1	0	0	0	0	0	0	1	0	10546	1014	35	3	160	3	NOS3	7	150691049	Splice_Site	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	7809616	150691049	8447614	29	4481											
SOX7	83595	genome.wustl.edu	37	chr8	10584160	10584160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgggacagcgtcagCgccttccacgactttcctgc	9	16	3	0	rs368097716		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:10584160C>T	ENST00000304501.1	-	2	333	c.255G>A	c.(253-255)gcG>gcA	p.A85A	SOX7_ENST00000553390.1_Silent_p.A137A|SOX7_ENST00000554914.1_Silent_p.A137A|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	85					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ACAGCGTCAGCGCCTTCCACG	0.642																																																	0								ENSG00000171056	C		0,4406		0,0,2203	38	40	39		255	-4.3	0.9	8		39	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SOX7	NM_031439.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		85/389	10584160	1,13003	2203	4299	6502	SOX7	SO:0001819	synonymous_variant	0			-	HGNC	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.255G>A	8.37:g.10584160C>T		Somatic	0	28	0		0.469240834679579	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B4DKV0|Q53YD0	Silent	SNP							pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.A137	ENST00000304501.1	37	c.411	CCDS5977.1	8																																																																																			-	pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom		0.642	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	protein_coding	OTTHUMT00000207131.1	C		-		10584160	-1	no_errors	ENST00000553390	ensembl	human	known	74_37	silent	SNP	0.721	T	T	10584160	C	T	10584160	2	4	80	1	0	0	0	0	0	0	0	1	14964	755	27	1		1	SOX7	8	10584160	Silent	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		10584160	135779862	30	4482											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68170325	68170325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaccttatttacccttgGttgcattctaggtatcttgc	7	9	2	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:68170325G>T	ENST00000262215.3	-	16	2825	c.2436C>A	c.(2434-2436)aaC>aaA	p.N812K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N266K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	812	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTACCCTTGGTTGCATTCTA	0.408																																																	0								ENSG00000066777						95	93	93					8																	68170325		2203	4300	6503	ARFGEF1	SO:0001583	missense	0			-	HGNC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2436C>A	8.37:g.68170325G>T	ENSP00000262215:p.Asn812Lys	Somatic	0	37	0		0.469240834679579	10	23.08	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.N812K	ENST00000262215.3	37	c.2436	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597544	0.66332	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	D;D	0.81996	-1.56;-1.56	4.87	4.0	0.46444	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92935	0.6367	10	0.87932	D	0	.	10.2282	0.43238	0.1597:0.0:0.8403:0.0	.	812;266	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	K	266;812	ENSP00000428429:N266K;ENSP00000262215:N812K	ENSP00000262215:N812K	N	-	3	2	ARFGEF1	68332879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.391000	0.44424	1.036000	0.39998	0.563000	0.77884	AAC	-	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom		0.408	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	protein_coding	OTTHUMT00000379441.4	G	NM_006421	-		68170325	-1	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68170325	G	T	68170325	3	4	80	1	0	0	0	0	1	0	0	0	852	1252	44	3	3209	3	ARFGEF1	8	68170325	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	57586165	68170325	78193697	31	4483											
TMEM67	91147	genome.wustl.edu	37	chr8	94827578	94827578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtattatggaaatgaagCtactcttcttatttttgatc	6	7	2	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:94827578C>T	ENST00000453321.3	+	27	2868	c.2810C>T	c.(2809-2811)gCt>gTt	p.A937V	TMEM67_ENST00000409623.3_Missense_Mutation_p.A856V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	937					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGAAATGAAGCTACTCTTCTT	0.299																																																	0								ENSG00000164953						148	125	133					8																	94827578		2203	4296	6499	TMEM67	SO:0001583	missense	0			-	HGNC	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2810C>T	8.37:g.94827578C>T	ENSP00000389998:p.Ala937Val	Somatic	0	42	0		0.469240834679579	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP							pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.A937V	ENST00000453321.3	37	c.2810	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133662	0.37630	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.96745	-4.11;-4.11	5.76	4.86	0.63082	.	0.186433	0.47093	D	0.000246	D	0.91918	0.7441	L	0.27053	0.805	0.36614	D	0.875352	B;B	0.34399	0.32;0.452	B;B	0.34991	0.193;0.164	D	0.91040	0.4870	10	0.08599	T	0.76	-10.8372	16.846	0.85981	0.0:0.8719:0.1281:0.0	.	937;856	Q5HYA8;G5E9H2	MKS3_HUMAN;.	V	937;856	ENSP00000389998:A937V;ENSP00000386966:A856V	ENSP00000314488:A927V	A	+	2	0	TMEM67	94896754	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.576000	0.60915	2.721000	0.93114	0.591000	0.81541	GCT	-	pfam_Meckelin		0.299	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	protein_coding	OTTHUMT00000329641.2	C	NM_153704	-		94827578	1	no_errors	ENST00000453321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94827578	C	T	94827578	3	4	80	1	0	0	0	0	1	0	0	0	16203	797	28	2	3054	2	TMEM67	8	94827578	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	26657253	94827578	51536444	32	4484											
PHF20L1	51105	genome.wustl.edu	37	chr8	133851693	133851693	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaataatgggagaatgtgCgggttatcatttttcaaaga	11	3	2	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:133851693C>A	ENST00000395386.2	+	18	2552	c.2253C>A	c.(2251-2253)tgC>tgA	p.C751*	PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.C138*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.C726*|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	751							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGAGAATGTGCGGGTTATCAT	0.388																																																	0								ENSG00000129292						144	140	142					8																	133851693		1885	4110	5995	PHF20L1	SO:0001587	stop_gained	0			-	HGNC	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2253C>A	8.37:g.133851693C>A	ENSP00000378784:p.Cys751*	Somatic	0	66	0		0.469240834679579	10	23.08	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.C138*	ENST00000395386.2	37	c.414	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	C	34	5.338423	0.95783	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.41	-7.56	0.01322	.	0.311107	0.26453	U	0.024285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.7213	17.2278	0.86975	0.0:0.2403:0.0:0.7597	.	.	.	.	X	751;138;726	.	ENSP00000220847:C138X	C	+	3	2	PHF20L1	133920875	0.931000	0.31567	0.523000	0.27875	0.958000	0.62258	0.004000	0.13106	-1.557000	0.01692	-0.768000	0.03414	TGC	-	NULL		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	protein_coding	OTTHUMT00000308949.3	C	NM_016018	-		133851693	1	no_errors	ENST00000220847	ensembl	human	known	74_37	nonsense	SNP	0.618	A	A	133851693	C	A	133851693	4	1	80	1	0	0	0	0	0	1	0	0	11834	776	27	3	2415	3	PHF20L1	8	133851693	Nonsense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	39024115	133851693	12512329	33	4485											
SLC24A2	25769	genome.wustl.edu	37	chr9	19516346	19516346	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggccattgctgctgacAgccactggctggaatctgtg	12	10	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:19516346A>G	ENST00000341998.2	-	10	1852	c.1791T>C	c.(1789-1791)gcT>gcC	p.A597A	SLC24A2_ENST00000286344.3_Silent_p.A580A	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	597					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGCTGCTGACAGCCACTGGCT	0.547																																																	0								ENSG00000155886						58	53	55					9																	19516346		2203	4300	6503	SLC24A2	SO:0001819	synonymous_variant	0			-	HGNC	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1791T>C	9.37:g.19516346A>G		Somatic	0	27	0		0.469240834679579	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP							pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.A597	ENST00000341998.2	37	c.1791	CCDS6493.1	9																																																																																			-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.547	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	protein_coding	OTTHUMT00000051866.2	A	NM_020344	-		19516346	-1	no_errors	ENST00000341998	ensembl	human	known	74_37	silent	SNP	0.011	G	G	19516346	A	G	19516346	2	3	80	1	0	0	0	0	0	0	0	1	14474	175	7	5		5	SLC24A2	9	19516346	Silent	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09		19516346	121697085	34	4486											
PCSK5	5125	genome.wustl.edu	37	chr9	78773965	78773965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctcggataaccccaaCcgccatgtcaactacctgga	9	15	1	0	rs551470745		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:78773965C>A	ENST00000545128.1	+	12	2035	c.1497C>A	c.(1495-1497)aaC>aaA	p.N499K	PCSK5_ENST00000376767.3_Missense_Mutation_p.N499K|PCSK5_ENST00000376752.4_Missense_Mutation_p.N499K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	499					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATAACCCCAACCGCCATGTCA	0.552																																																	0								ENSG00000099139						168	148	155					9																	78773965		2203	4300	6503	PCSK5	SO:0001583	missense	0			-	HGNC		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1497C>A	9.37:g.78773965C>A	ENSP00000446280:p.Asn499Lys	Somatic	0	51	0		0.469240834679579	32	17.95	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.N499K	ENST00000545128.1	37	c.1497	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838545	0.71373	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.16	4.31	0.51392	.	0.039030	0.85682	D	0.000000	T	0.49287	0.1548	L	0.33668	1.02	0.50467	D	0.999878	B;B	0.25272	0.03;0.122	B;B	0.22386	0.013;0.039	T	0.52132	-0.8616	10	0.72032	D	0.01	-41.4783	9.7955	0.40733	0.0:0.6969:0.0:0.3031	.	499;499	Q92824-2;B1AMG5	.;.	K	499;202;499;499;499;172	ENSP00000446280:N499K;ENSP00000365958:N499K;ENSP00000365943:N499K;ENSP00000411654:N172K	ENSP00000365943:N499K	N	+	3	2	PCSK5	77963785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.836000	0.27545	1.612000	0.50221	0.650000	0.86243	AAC	-	superfamily_Galactose-bd-like		0.552	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	protein_coding		C		-		78773965	1	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78773965	C	A	78773965	3	1	80	1	0	0	0	0	1	0	0	0	11605	506	18	3	1543	3	PCSK5	9	78773965	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	59257619	78773965	62439466	35	4487											
OGN	4969	genome.wustl.edu	37	chr9	95155370	95155370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttcagcttaacttacgtAtgtctgcaaaatctttggca	6	8	3	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:95155370A>G	ENST00000262551.4	-	4	845	c.425T>C	c.(424-426)aTa>aCa	p.I142T	OGN_ENST00000375561.5_Missense_Mutation_p.I142T|OGN_ENST00000468743.1_5'UTR|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	142					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.I142K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAACTTACGTATGTCTGCAAA	0.343																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000106809						76	68	71					9																	95155370		2203	4300	6503	OGN	SO:0001583	missense	0			-	HGNC	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.425T>C	9.37:g.95155370A>G	ENSP00000262551:p.Ile142Thr	Somatic	0	63	0		0.469240834679579	171	24.23	55	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	76	15.56	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I142T	ENST00000262551.4	37	c.425	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761835	0.49468	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.56941	0.43;0.43;0.43	4.85	4.85	0.62838	.	0.191833	0.53938	D	0.000056	T	0.36468	0.0968	N	0.12637	0.245	0.45747	D	0.998649	B;B	0.31931	0.316;0.347	B;B	0.30646	0.118;0.111	T	0.41945	-0.9480	10	0.87932	D	0	.	14.7485	0.69508	1.0:0.0:0.0:0.0	.	200;142	B4DI63;P20774	.;MIME_HUMAN	T	142;142;200	ENSP00000262551:I142T;ENSP00000364711:I142T;ENSP00000396709:I200T	ENSP00000262551:I142T	I	-	2	0	OGN	94195191	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	1.968000	0.57251	0.455000	0.32223	ATA	-	smart_Leu-rich_rpt_typical-subtyp		0.343	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	protein_coding	OTTHUMT00000053087.1	A	NM_024416	-		95155370	-1	no_errors	ENST00000262551	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95155370	A	G	95155370	3	3	80	1	0	0	0	0	1	0	0	0	10848	449	16	5	487	5	OGN	9	95155370	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	16381405	95155370	46058061	36	4488											
OR13F1	138805	genome.wustl.edu	37	chr9	107266907	107266907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatgatggcatatgacCggtatgtggccatctgcaac	11	11	1	2	rs201311592		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:107266907C>T	ENST00000334726.2	+	1	453	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122W(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGCATATGACCGGTATGTGGC	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000186881						88	75	79					9																	107266907		2203	4300	6503	OR13F1	SO:0001583	missense	0			-	HGNC		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.364C>T	9.37:g.107266907C>T	ENSP00000334452:p.Arg122Trp	Somatic	0	24	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q6IF50	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122W	ENST00000334726.2	37	c.364	CCDS35087.1	9	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229519	0.58777	.	.	ENSG00000186881	ENST00000334726	T	0.77620	-1.11	4.3	-0.056	0.13807	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	D	0.88588	0.6477	H	0.97587	4.035	0.39159	D	0.962364	D	0.89917	1.0	D	0.65010	0.931	D	0.84909	0.0847	10	0.87932	D	0	.	4.4927	0.11820	0.1912:0.5389:0.0:0.2699	.	122	Q8NGS4	O13F1_HUMAN	W	122	ENSP00000334452:R122W	ENSP00000334452:R122W	R	+	1	2	OR13F1	106306728	0.978000	0.34361	0.996000	0.52242	0.996000	0.88848	0.830000	0.27462	-0.009000	0.14296	0.655000	0.94253	CGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	protein_coding	OTTHUMT00000053475.1	C		rs201311592		107266907	1	no_errors	ENST00000334726	ensembl	human	known	74_37	missense	SNP	0.999	T	T	107266907	C	T	107266907	3	4	80	1	0	0	0	0	1	0	0	0	10943	643	23	1	366	1	OR13F1	9	107266907	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	12111537	107266907	33946524	37	4489											
TNC	3371	genome.wustl.edu	37	chr9	117849123	117849123	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcacacacgcactcattcTccacgcatcgtccacggttg	6	17	3	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:117849123T>A	ENST00000350763.4	-	3	1298	c.887A>T	c.(886-888)gAg>gTg	p.E296V	TNC_ENST00000340094.3_Missense_Mutation_p.E296V|TNC_ENST00000537320.1_Missense_Mutation_p.E296V|TNC_ENST00000423613.2_Missense_Mutation_p.E296V|TNC_ENST00000345230.3_Missense_Mutation_p.E296V|TNC_ENST00000341037.4_Missense_Mutation_p.E296V|TNC_ENST00000346706.3_Missense_Mutation_p.E296V|TNC_ENST00000535648.1_Missense_Mutation_p.E296V|TNC_ENST00000542877.1_Missense_Mutation_p.E296V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	296	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GCACTCATTCTCCACGCATCG	0.557																																																	0								ENSG00000041982						232	173	193					9																	117849123		2203	4300	6503	TNC	SO:0001583	missense	0			-	HGNC		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.887A>T	9.37:g.117849123T>A	ENSP00000265131:p.Glu296Val	Somatic	0	26	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E296V	ENST00000350763.4	37	c.887	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037971	0.75617	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.56	5.56	0.83823	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.200501	0.50627	D	0.000110	T	0.18635	0.0447	L	0.56769	1.78	0.37736	D	0.925457	P;P	0.46859	0.791;0.885	B;P	0.46585	0.392;0.521	T	0.02015	-1.1229	10	0.72032	D	0.01	.	15.1655	0.72821	0.0:0.0:0.0:1.0	.	296;296	E9PC84;P24821	.;TENA_HUMAN	V	296	ENSP00000344400:E296V;ENSP00000438152:E296V;ENSP00000344555:E296V;ENSP00000345861:E296V;ENSP00000265131:E296V;ENSP00000339553:E296V;ENSP00000411406:E296V;ENSP00000443478:E296V;ENSP00000442242:E296V	ENSP00000344400:E296V	E	-	2	0	TNC	116888944	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.737000	0.62066	2.238000	0.73509	0.460000	0.39030	GAG	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160	-		117849123	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117849123	T	A	117849123	3	1	80	1	0	0	0	0	1	0	0	0	16277	1551	54	5	5822	5	TNC	9	117849123	Missense_Mutation	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	10582216	117849123	23364308	38	4490											
BLOC1S2	282991	genome.wustl.edu	37	chr10	102039885	102039885	+	Frame_Shift_Del	DEL	T	T	-													aagtaaaaacggttacccagTttttttgaatatgcatccaa							TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr10:102039885delT	ENST00000370372.2	-	4	445	c.393delA	c.(391-393)aaafs	p.K131fs	BLOC1S2_ENST00000441611.1_Frame_Shift_Del_p.K88fs|BLOC1S2_ENST00000361832.2_5'Flank	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	131					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|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)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GGTTACCCAGTTTTTTTGAAT	0.388																																																	0								ENSG00000196072						100	101	101					10																	102039885		2203	4300	6503	BLOC1S2	SO:0001589	frameshift_variant	0				HGNC	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"Biogenesis of lysosomal organelles complex-1 subunits"	20984	protein-coding gene	gene with protein product	"centrosome protein oncogene", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 2", "BLOC-1 subunit 2"	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.393delA	10.37:g.102039885delT	ENSP00000359398:p.Lys131fs	Somatic	0	34	0		0.469240834679579	64	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	B4DQV2|Q5W040|Q8WUI8	Frame_Shift_Del	DEL							pfam_BLOC1_su2	p.K131fs	ENST00000370372.2	37	c.393	CCDS7490.1	10																																																																																			-	pfam_BLOC1_su2		0.388	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S2	protein_coding	OTTHUMT00000049861.2	T	NM_173809			102039885	-1	no_errors	ENST00000370372	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	102039885	T	-	102039885	7	5	80	1	0	1	0	1	0	0	0	0	1449	1722	60	0	43	0	BLOC1S2	10	102039885	Frame_Shift_Del	DEL	T	TCGA-DX-A6YZ-01A-12D-A351-09		102039885	33494862	39	4491											
SBF2	81846	genome.wustl.edu	37	chr11	10051374	10051374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattagactttccaaggAgacattcaggctgtccacat	8	10	1	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:10051374A>G	ENST00000256190.8	-	5	588	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	151	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)		CTTTCCAAGGAGACATTCAGG	0.413																																																	0								ENSG00000133812						205	205	205					11																	10051374		2201	4294	6495	SBF2	SO:0001583	missense	0			-	HGNC	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.451T>C	11.37:g.10051374A>G	ENSP00000256190:p.Ser151Pro	Somatic	0	45	0		0.469240834679579	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP							pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S151P	ENST00000256190.8	37	c.451	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378569	0.24944	.	.	ENSG00000133812	ENST00000256190	T	0.10192	2.9	5.54	4.41	0.53225	DENN (3);	0.277708	0.36101	N	0.002785	T	0.04363	0.0120	N	0.02213	-0.635	0.47065	D	0.9993	B	0.11235	0.004	B	0.17979	0.02	T	0.39251	-0.9623	9	.	.	.	.	11.3332	0.49487	0.9285:0.0:0.0715:0.0	.	151	Q86WG5	MTMRD_HUMAN	P	151	ENSP00000256190:S151P	.	S	-	1	0	SBF2	10007950	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.489000	0.73641	0.947000	0.37659	0.477000	0.44152	TCC	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.413	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	protein_coding	OTTHUMT00000386911.2	A	NM_030962	-		10051374	-1	no_errors	ENST00000256190	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10051374	A	G	10051374	3	3	80	1	0	0	0	0	1	0	0	0	13867	304	11	5	5242	5	SBF2	11	10051374	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09		10051374	124955142	40	4492											
NUCB2	4925	genome.wustl.edu	37	chr11	17316992	17316992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatattcaccctgtggAaagtgcgaagatagaaccac	8	9	1	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:17316992A>G	ENST00000529010.1	+	3	341	c.122A>G	c.(121-123)gAa>gGa	p.E41G	NUCB2_ENST00000458064.2_Missense_Mutation_p.E41G|NUCB2_ENST00000323688.6_Missense_Mutation_p.E41G	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	41						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCTGTGGAAAGTGCGAAG	0.343																																																	0								ENSG00000070081						187	169	175					11																	17316992		1850	4100	5950	NUCB2	SO:0001583	missense	0			-	HGNC	AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.122A>G	11.37:g.17316992A>G	ENSP00000436455:p.Glu41Gly	Somatic	0	59	0		0.469240834679579	224	5.88	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.53	A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.E41G	ENST00000529010.1	37	c.122	CCDS41623.1	11	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055052	0.75960	.	.	ENSG00000070081	ENST00000530527;ENST00000526120;ENST00000533738;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000533926;ENST00000458064	T;T;T	0.21361	2.01;2.01;2.04	5.7	5.7	0.88788	.	0.432895	0.28901	N	0.013775	T	0.28134	0.0694	M	0.77103	2.36	0.53688	D	0.999975	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.002	T	0.04255	-1.0965	9	.	.	.	-7.8316	14.5454	0.68027	1.0:0.0:0.0:0.0	.	41;41;41	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	G	41	ENSP00000320168:E41G;ENSP00000436455:E41G;ENSP00000408702:E41G	.	E	+	2	0	NUCB2	17273568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.246000	0.78247	2.173000	0.68751	0.528000	0.53228	GAA	-	NULL		0.343	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUCB2	protein_coding	OTTHUMT00000387614.2	A	NM_005013	-		17316992	1	no_errors	ENST00000323688	ensembl	human	known	74_37	missense	SNP	1.000	G	G	17316992	A	G	17316992	3	3	80	1	0	0	0	0	1	0	0	0	10721	246	9	5	124	5	NUCB2	11	17316992	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	7265618	17316992	117689524	41	4493											
FAT3	120114	genome.wustl.edu	37	chr11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggttatcagtgaagacGccttggtgggagactctgtc	15	8	2	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31. {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)				CAGTGAAGACGCCTTGGTGGG	0.483										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						47	48	47					11																	92568224		1939	4145	6084	FAT3	SO:0001583	missense	0			-	HGNC	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.10060G>A	11.37:g.92568224G>A	ENSP00000298047:p.Ala3354Thr	Somatic	0	36	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3354T	ENST00000298047.6	37	c.10060		11	.	.	.	.	.	.	.	.	.	.	G	35	5.467291	0.96257	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02682	4.2;4.2;4.2	5.46	5.46	0.80206	.	.	.	.	.	T	0.12050	0.0293	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02560	-1.1141	9	0.42905	T	0.14	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3354	Q8TDW7-3	.	T	3354;3354;3204	ENSP00000298047:A3354T;ENSP00000387040:A3354T;ENSP00000432586:A3204T	ENSP00000298047:A3354T	A	+	1	0	FAT3	92207872	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.626000	0.74253	2.539000	0.85634	0.655000	0.94253	GCC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		G	NM_001008781	-		92568224	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92568224	G	A	92568224	3	1	80	1	0	0	0	0	1	0	0	0	5693	1087	38	1	10114	1	FAT3	11	92568224	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	75251232	92568224	42438292	42	4494											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123479374	123479374	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcttctgtgcaggagaggtCcaggccttctatgaggacct	12	11	3	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:123479374C>A	ENST00000529750.1	+	11	1419	c.1092C>A	c.(1090-1092)gtC>gtA	p.V364V	GRAMD1B_ENST00000456860.2_Silent_p.V371V|GRAMD1B_ENST00000450171.2_Silent_p.V55V|GRAMD1B_ENST00000322282.7_Silent_p.V364V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	364						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CAGGAGAGGTCCAGGCCTTCT	0.567																																																	0								ENSG00000023171						43	44	43					11																	123479374		2004	4168	6172	GRAMD1B	SO:0001819	synonymous_variant	0			-	HGNC	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1092C>A	11.37:g.123479374C>A		Somatic	0	26	0		0.469240834679579	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	Q6UW85|Q9ULL9	Silent	SNP							pfam_GRAM,smart_GRAM	p.V364	ENST00000529750.1	37	c.1092	CCDS53720.1	11																																																																																			-	NULL		0.567	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	protein_coding	OTTHUMT00000387404.2	C	XM_370660	-		123479374	1	no_errors	ENST00000322282	ensembl	human	known	74_37	silent	SNP	1.000	A	A	123479374	C	A	123479374	2	1	80	1	0	0	0	0	0	0	0	1	6750	842	30	3		3	GRAMD1B	11	123479374	Silent	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	30911150	123479374	11527142	43	4495											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3747504	3747504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggagcggccgggggtacGgacccccaggccctggctcc	17	16	0	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:3747504G>T	ENST00000440314.2	-	14	1861	c.1388C>A	c.(1387-1389)cCg>cAg	p.P463Q		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCGGGGGTACGGACCCCCAGG	0.617																																																	0								ENSG00000130038						20	24	23					12																	3747504		692	1591	2283	EFCAB4B	SO:0001583	missense	0			-	HGNC																												ENST00000440314.2:c.1388C>A	12.37:g.3747504G>T	ENSP00000409382:p.Pro463Gln	Somatic	0	97	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	86	23.89	B4E1X0|B9EK63	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.P463Q	ENST00000440314.2	37	c.1388	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372877	0.42105	.	.	ENSG00000130038	ENST00000440314	T	0.63913	-0.07	4.63	-5.2	0.02823	.	.	.	.	.	T	0.40767	0.1130	.	.	.	0.09310	N	0.999999	B	0.12630	0.006	B	0.09377	0.004	T	0.30268	-0.9984	8	0.72032	D	0.01	.	0.6974	0.00901	0.3494:0.1064:0.22:0.3242	.	463	Q9BSW2-2	.	Q	463	ENSP00000409382:P463Q	ENSP00000409382:P463Q	P	-	2	0	EFCAB4B	3617765	0.053000	0.20554	0.000000	0.03702	0.000000	0.00434	1.087000	0.30865	-1.304000	0.02329	-0.484000	0.04775	CCG	-	NULL		0.617	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	protein_coding	OTTHUMT00000398640.2	G		-		3747504	-1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	SNP	0.000	T	T	3747504	G	T	3747504	3	4	80	1	0	0	0	0	1	0	0	0	4939	1116	39	3	835	3	EFCAB4B	12	3747504	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		3747504	130104391	44	4496											
SLC2A13	114134	genome.wustl.edu	37	chr12	40345132	40345132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattaaagctcggcgagttgGgggataactcagcattctgc	12	8	2	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:40345132G>T	ENST00000280871.4	-	4	1011	c.961C>A	c.(961-963)Cca>Aca	p.P321T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CGGCGAGTTGGGGGATAACTC	0.373										HNSCC(50;0.14)																																							0								ENSG00000151229						81	81	81					12																	40345132		2203	4300	6503	SLC2A13	SO:0001583	missense	0			-	HGNC	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.961C>A	12.37:g.40345132G>T	ENSP00000280871:p.Pro321Thr	Somatic	0	92	0		0.469240834679579	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	96	19.83	Q17S07	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.P321T	ENST00000280871.4	37	c.961	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189672	0.38707	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58506	0.33;0.33	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051545	0.85682	D	0.000000	T	0.48059	0.1479	L	0.41124	1.26	0.80722	D	1	B;B	0.32968	0.153;0.392	B;B	0.30401	0.115;0.115	T	0.42207	-0.9465	10	0.10377	T	0.69	-13.595	18.9337	0.92577	0.0:0.0:1.0:0.0	.	321;321	Q96QE2;E9PE47	MYCT_HUMAN;.	T	321	ENSP00000280871:P321T;ENSP00000370239:P321T	ENSP00000280871:P321T	P	-	1	0	SLC2A13	38631399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.706000	0.92434	0.555000	0.69702	CCA	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	protein_coding	OTTHUMT00000132849.2	G		-		40345132	-1	no_errors	ENST00000280871	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40345132	G	T	40345132	3	4	80	1	0	0	0	0	1	0	0	0	14550	1232	43	3	1013	3	SLC2A13	12	40345132	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	36597628	40345132	93506763	45	4497											
SENP1	29843	genome.wustl.edu	37	chr12	48458904	48458904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatttatgaccttttttttGtgtttcttggacaacagtaa	6	5	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:48458904G>T	ENST00000004980.5	-	12	1697	c.1219C>A	c.(1219-1221)Caa>Aaa	p.Q407K	SENP1_ENST00000448372.1_Missense_Mutation_p.Q407K|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Missense_Mutation_p.Q407K|SENP1_ENST00000549518.1_Missense_Mutation_p.Q407K|SENP1_ENST00000549595.1_Missense_Mutation_p.Q407K			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	407					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CCTTTTTTTTGTGTTTCTTGG	0.348																																																	0								ENSG00000079387						126	118	120					12																	48458904		1833	4082	5915	SENP1	SO:0001583	missense	0			-	HGNC	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1219C>A	12.37:g.48458904G>T	ENSP00000004980:p.Gln407Lys	Somatic	0	32	0		0.469240834679579	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K7P5|Q86XC8	Missense_Mutation	SNP							pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q407K	ENST00000004980.5	37	c.1219	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	G	4.728	0.135290	0.09032	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.45	3.6	0.41247	.	0.852888	0.10669	N	0.647745	T	0.06050	0.0157	N	0.08118	0	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.20672	-1.0268	10	0.07644	T	0.81	0.1021	6.8356	0.23935	0.0:0.7122:0.1888:0.099	.	407;407	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	407	ENSP00000004980:Q407K;ENSP00000394791:Q407K;ENSP00000446681:Q407K;ENSP00000450076:Q407K;ENSP00000447328:Q407K	ENSP00000004980:Q407K	Q	-	1	0	SENP1	46745171	0.915000	0.31059	0.934000	0.37439	0.646000	0.38490	1.480000	0.35464	0.657000	0.30906	-0.502000	0.04539	CAA	-	NULL		0.348	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	protein_coding	OTTHUMT00000406471.1	G	NM_014554	-		48458904	-1	no_errors	ENST00000004980	ensembl	human	known	74_37	missense	SNP	0.856	T	T	48458904	G	T	48458904	3	4	80	1	0	0	0	0	1	0	0	0	14054	1386	48	3	740	3	SENP1	12	48458904	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	8113772	48458904	85392991	46	4498											
NTN4	59277	genome.wustl.edu	37	chr12	96180807	96180807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccaggccaaatgtagcGgagcagttagtcgcaaagta	11	9	1	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:96180807G>A	ENST00000343702.4	-	2	943	c.495C>T	c.(493-495)tcC>tcT	p.S165S	NTN4_ENST00000553059.1_Silent_p.S165S|NTN4_ENST00000344911.4_Silent_p.S128S|NTN4_ENST00000538383.1_Silent_p.S128S	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	165	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAATGTAGCGGAGCAGTTAG	0.507																																																	0								ENSG00000074527						106	99	101					12																	96180807		2203	4300	6503	NTN4	SO:0001819	synonymous_variant	0			-	HGNC	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.495C>T	12.37:g.96180807G>A		Somatic	0	50	0		0.469240834679579	65	18.75	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	68	13.92	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.S165	ENST00000343702.4	37	c.495	CCDS9054.1	12																																																																																			-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.507	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	protein_coding	OTTHUMT00000408372.1	G	NM_021229	-		96180807	-1	no_errors	ENST00000343702	ensembl	human	known	74_37	silent	SNP	0.000	A	A	96180807	G	A	96180807	2	1	80	1	0	0	0	0	0	0	0	1	10704	1103	39	1		1	NTN4	12	96180807	Silent	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	47721903	96180807	37671088	47	4499											
GPN3	51184	genome.wustl.edu	37	chr12	110902999	110902999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcttcacagtgctggacCatggtggcacagtaggtgct	15	9	1	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:110902999C>A	ENST00000228827.3	-	2	131	c.69G>T	c.(67-69)atG>atT	p.M23I	GPN3_ENST00000537466.2_Missense_Mutation_p.M33I|GPN3_ENST00000543199.1_Missense_Mutation_p.M62I|GPN3_ENST00000552180.1_5'UTR	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						AGTGCTGGACCATGGTGGCAC	0.493																																																	0								ENSG00000111231						164	131	142					12																	110902999		2203	4300	6503	GPN3	SO:0001583	missense	0			-	HGNC	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"GPN-loop GTPases"	30186	protein-coding gene	gene with protein product			"ATP binding domain 1 family, member C"	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.69G>T	12.37:g.110902999C>A	ENSP00000228827:p.Met23Ile	Somatic	0	47	0		0.469240834679579	52	32.05	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	43	36.76		Missense_Mutation	SNP							pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase	p.M62I	ENST00000228827.3	37	c.186	CCDS9147.1	12	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285544	0.59867	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000550974	T;T;T;T	0.21191	2.25;2.25;2.25;2.02	5.95	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.35542	1.07	0.80722	D	1	B;B	0.16802	0.015;0.019	B;B	0.20767	0.031;0.016	T	0.03403	-1.1040	10	0.20519	T	0.43	-17.7725	16.7096	0.85381	0.1304:0.8696:0.0:0.0	.	33;23	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	I	23;62;33;1	ENSP00000228827:M23I;ENSP00000442770:M62I;ENSP00000443068:M33I;ENSP00000447480:M1I	ENSP00000228827:M23I	M	-	3	0	GPN3	109387382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.619000	0.54196	1.523000	0.49018	0.563000	0.77884	ATG	-	pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase		0.493	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN3	protein_coding	OTTHUMT00000404607.1	C	NM_016301	-		110902999	-1	no_errors	ENST00000543199	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110902999	C	A	110902999	3	1	80	1	0	0	0	0	1	0	0	0	6621	594	21	3	813	3	GPN3	12	110902999	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	14722192	110902999	22948896	48	4500											
DACH1	1602	genome.wustl.edu	37	chr13	72440659	72440664	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-													ctgccgccgccgcctccgctGccgccgccgccgccgccgcc					rs202136379		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	GCCGCC	GCCGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr13:72440659_72440664delGCCGCC	ENST00000359684.2	-	1	243_248	c.244_249delGGCGGC	c.(244-249)ggcggcdel	p.GG82del	DACH1_ENST00000313174.7_In_Frame_Del_p.GG82del|DACH1_ENST00000305425.4_In_Frame_Del_p.GG82del|DACH1_ENST00000354591.4_In_Frame_Del_p.GG82del			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	82	Poly-Gly.			Missing (in Ref. 1; AAF01351 and 2; AAL08487). {ECO:0000305}.	cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		cgcctccgctgccgccgccgccgccg	0.791																																																	0								ENSG00000165659																																			DACH1	SO:0001651	inframe_deletion	0				HGNC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.244_249delGGCGGC	13.37:g.72440665_72440670delGCCGCC	ENSP00000352712:p.Gly82_Gly83del	Somatic					0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	In_Frame_Del	DEL							pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.GG82in_frame_del	ENST00000359684.2	37	c.249_244		13																																																																																			-	NULL		0.791	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	protein_coding	OTTHUMT00000045240.1	GCCGCC	NM_004392			72440664	-1	no_errors	ENST00000359684	ensembl	human	known	74_37	in_frame_del	DEL	0.750:0.744:0.739:0.734:0.729:0.725	-	-	72440664	GCCGCC	-	72440659	7	5	80	1	0	1	0	1	0	0	0	0	4222	1306	46	0	1921	0	DACH1	13	72440659	In_Frame_Del	DEL	GCCGCC	TCGA-DX-A6YZ-01A-12D-A351-09		72440659	42729219	49	4501											
ZC3H14	79882	genome.wustl.edu	37	chr14	89076098	89076098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtagtcagctctgccGttacttccctgcttgtaaga	8	12	2	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr14:89076098G>A	ENST00000251038.5	+	15	2273	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	ZC3H14_ENST00000393514.5_Missense_Mutation_p.R658H|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R677H|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R518H|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R552H|ZC3H14_ENST00000406216.3_Missense_Mutation_p.R229H|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R526H|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R367H|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R518H|ZC3H14_ENST00000555900.1_Missense_Mutation_p.R385H|ZC3H14_ENST00000318308.6_Missense_Mutation_p.R253H	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	683						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCTCTGCCGTTACTTCCCT	0.393																																																	0								ENSG00000100722						120	111	114					14																	89076098		2203	4300	6503	ZC3H14	SO:0001583	missense	0			-	HGNC	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.2048G>A	14.37:g.89076098G>A	ENSP00000251038:p.Arg683His	Somatic	0	45	0		0.469240834679579	38	28.3	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP							smart_Znf_CCCH	p.R683H	ENST00000251038.5	37	c.2048	CCDS32133.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.936319|4.936319	0.92458|0.92458	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000318308;ENST00000555900;ENST00000406216;ENST00000555792|ENST00000556000	D;D;D;D|.	0.86097|.	-2.07;-2.07;-2.07;-2.07|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Zinc finger, CCCH-type (1);|.	0.054550|.	0.64402|.	D|.	0.000001|.	T|T	0.81103|0.81103	0.4753|0.4753	M|M	0.90309|0.90309	3.105|3.105	0.40617|0.40617	D|D	0.981721|0.981721	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D;D;D|.	0.91635|.	0.995;0.996;0.998;0.999;0.991;0.982;0.992;0.999|.	D|D	0.84606|0.84606	0.0675|0.0675	10|5	0.87932|.	D|.	0|.	-14.7746|-14.7746	14.0108|14.0108	0.64495|0.64495	0.0772:0.0:0.9228:0.0|0.0772:0.0:0.9228:0.0	.|.	552;532;677;682;229;253;526;683|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-8;Q6PJT7-6;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;.;.;ZC3HE_HUMAN|.	H|I	683;658;620;518;526;532;552;367;677;658;518;253;385;229;98|598	ENSP00000327176:R253H;ENSP00000451530:R385H;ENSP00000384682:R229H;ENSP00000450823:R98H|.	ENSP00000251038:R683H|.	R|V	+|+	2|1	0|0	ZC3H14|ZC3H14	88145851|88145851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.834000|6.834000	0.75339|0.75339	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CGT|GTT	-	smart_Znf_CCCH		0.393	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	protein_coding	OTTHUMT00000410387.1	G	NM_024824	-		89076098	1	no_errors	ENST00000251038	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89076098	G	A	89076098	3	1	80	1	0	0	0	0	1	0	0	0	17573	1145	40	1	2495	1	ZC3H14	14	89076098	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		89076098	18273442	50	4502											
TC2N	123036	genome.wustl.edu	37	chr14	92268696	92268696	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgggttatacacatcaTagctaggtccgtgctgggat	12	7	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr14:92268696T>G	ENST00000435962.2	-	4	694	c.371A>C	c.(370-372)tAt>tCt	p.Y124S	TC2N_ENST00000340892.5_Missense_Mutation_p.Y124S|TC2N_ENST00000556018.1_Missense_Mutation_p.Y124S|TC2N_ENST00000360594.5_Missense_Mutation_p.Y124S	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	124					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATACACATCATAGCTAGGTCC	0.428																																																	0								ENSG00000165929						136	108	118					14																	92268696		2203	4300	6503	TC2N	SO:0001583	missense	0			-	HGNC	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.371A>C	14.37:g.92268696T>G	ENSP00000387882:p.Tyr124Ser	Somatic	0	63	0		0.469240834679579	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95		Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.Y124S	ENST00000435962.2	37	c.371	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508862	0.44660	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.13538	3.47;3.47;3.47;2.58	5.36	4.22	0.49857	.	0.368835	0.31673	N	0.007255	T	0.14013	0.0339	L	0.56769	1.78	0.39087	D	0.961011	B;B	0.32829	0.386;0.011	B;B	0.31337	0.128;0.001	T	0.05989	-1.0852	10	0.34782	T	0.22	-5.9749	9.6278	0.39761	0.0:0.1459:0.0:0.8541	.	124;124	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	S	124	ENSP00000387882:Y124S;ENSP00000343199:Y124S;ENSP00000353802:Y124S;ENSP00000451317:Y124S	ENSP00000343199:Y124S	Y	-	2	0	TC2N	91338449	0.967000	0.33354	0.990000	0.47175	0.741000	0.42261	0.570000	0.23653	0.875000	0.35847	0.528000	0.53228	TAT	-	NULL		0.428	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	protein_coding	OTTHUMT00000411778.1	T	NM_152332	-		92268696	-1	no_errors	ENST00000340892	ensembl	human	known	74_37	missense	SNP	0.980	G	G	92268696	T	G	92268696	3	3	80	1	0	0	0	0	1	0	0	0	15672	1406	49	5	1137	5	TC2N	14	92268696	Missense_Mutation	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09	3192598	92268696	15080844	51	4503											
EXD1	161829	genome.wustl.edu	37	chr15	41483675	41483675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctcttttctagaaaggagaGatatttaggggctacttgaa	10	5	2	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr15:41483675G>C	ENST00000314992.5	-	8	845	c.655C>G	c.(655-657)Ctc>Gtc	p.L219V	EXD1_ENST00000458580.2_Missense_Mutation_p.L277V|RN7SL497P_ENST00000476341.2_RNA	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	219							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						AGAAAGGAGAGATATTTAGGG	0.373																																																	0								ENSG00000178997						83	88	86					15																	41483675		2203	4300	6503	EXD1	SO:0001583	missense	0			-	HGNC	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.655C>G	15.37:g.41483675G>C	ENSP00000321029:p.Leu219Val	Somatic	0	197	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	140	27.08	A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP							pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.L219V	ENST00000314992.5	37	c.655	CCDS10072.1	15	.	.	.	.	.	.	.	.	.	.	G	5.009	0.187417	0.09547	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.47528	0.84;0.85	5.55	3.67	0.42095	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.294551	0.27366	N	0.019687	T	0.21801	0.0525	N	0.02916	-0.46	0.09310	N	0.999998	B;B	0.15719	0.014;0.011	B;B	0.24269	0.052;0.022	T	0.12553	-1.0543	10	0.34782	T	0.22	-1.089	6.8111	0.23805	0.0:0.358:0.4174:0.2246	.	277;219	B7Z839;Q8NHP7	.;EXD1_HUMAN	V	219;277	ENSP00000321029:L219V;ENSP00000415056:L277V	ENSP00000321029:L219V	L	-	1	0	EXD1	39270967	0.956000	0.32656	0.994000	0.49952	0.694000	0.40290	1.530000	0.36007	1.331000	0.45412	0.491000	0.48974	CTC	-	superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.373	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	protein_coding	OTTHUMT00000252553.2	G	NM_152596	-		41483675	-1	no_errors	ENST00000314992	ensembl	human	known	74_37	missense	SNP	0.267	C	C	41483675	G	C	41483675	3	2	80	1	0	0	0	0	1	0	0	0	5299	942	33	4	901	4	EXD1	15	41483675	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		41483675	61047717	52	4504											
TAT	6898	genome.wustl.edu	37	chr16	71606163	71606163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggattattgacaatgagaCaagctgtcttttcatcaatt	7	6	3	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr16:71606163C>T	ENST00000355962.4	-	6	765	c.632G>A	c.(631-633)tGt>tAt	p.C211Y	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	211					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GACAATGAGACAAGCTGTCTT	0.423																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0								ENSG00000198650						152	140	144					16																	71606163		2198	4300	6498	TAT	SO:0001583	missense	0			-	HGNC		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.632G>A	16.37:g.71606163C>T	ENSP00000348234:p.Cys211Tyr	Somatic	0	58	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2R8I1|D3DWS2	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.C211Y	ENST00000355962.4	37	c.632	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688298	0.88639	.	.	ENSG00000198650	ENST00000355962	D	0.90444	-2.67	6.17	6.17	0.99709	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94013	0.8082	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	D	0.93638	0.6962	10	0.87932	D	0	-14.5102	20.8794	0.99867	0.0:1.0:0.0:0.0	.	211	P17735	ATTY_HUMAN	Y	211	ENSP00000348234:C211Y	ENSP00000348234:C211Y	C	-	2	0	TAT	70163664	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGT	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.423	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	protein_coding	OTTHUMT00000268989.1	C		-		71606163	-1	no_errors	ENST00000355962	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71606163	C	T	71606163	3	4	80	1	0	0	0	0	1	0	0	0	15597	478	17	2	760	2	TAT	16	71606163	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		71606163	18748590	53	4505											
AURKB	9212	genome.wustl.edu	37	chr17	8110163	8110163	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagaatcaagtagatcctccTccggtcataaaaatagttgt	7	8	2	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr17:8110163T>A	ENST00000585124.1	-	6	535	c.442A>T	c.(442-444)Agg>Tgg	p.R148W	AURKB_ENST00000578549.1_Missense_Mutation_p.R116W|AURKB_ENST00000535053.1_Intron|AURKB_ENST00000316199.6_Missense_Mutation_p.R149W|AURKB_ENST00000534871.1_Missense_Mutation_p.R107W	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	148	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)			breast(1)|central_nervous_system(1)|lung(2)	4						TAGATCCTCCTCCGGTCATAA	0.537																																					NSCLC(134;1161 2470 43664 51568)												0								ENSG00000178999						37	38	38					17																	8110163		2203	4300	6503	AURKB	SO:0001583	missense	0			-	HGNC	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.442A>T	17.37:g.8110163T>A	ENSP00000463999:p.Arg148Trp	Somatic	0	64	0		0.469240834679579	9	35.71	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R148W	ENST00000585124.1	37	c.442	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054909	0.36277	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T;T	0.08634	3.07;3.09	6.07	-1.51	0.08664	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.466082	0.22311	N	0.061728	T	0.16300	0.0392	L	0.58510	1.815	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.58520	0.84;0.84	T	0.04915	-1.0918	10	0.87932	D	0	-13.9679	10.4811	0.44693	0.0751:0.0:0.4297:0.4952	.	148;148	C7G533;Q96GD4	.;AURKB_HUMAN	W	148;107	ENSP00000313950:R148W;ENSP00000443869:R107W	ENSP00000313950:R148W	R	-	1	2	AURKB	8050888	0.000000	0.05858	0.699000	0.30290	0.970000	0.65996	0.246000	0.18160	0.025000	0.15241	0.533000	0.62120	AGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.537	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	protein_coding	OTTHUMT00000226995.2	T	NM_004217	-		8110163	-1	no_errors	ENST00000585124	ensembl	human	known	74_37	missense	SNP	0.009	A	A	8110163	T	A	8110163	3	1	80	1	0	0	0	0	1	0	0	0	1223	1550	54	5	608	5	AURKB	17	8110163	Missense_Mutation	SNP	T	TCGA-DX-A6YZ-01A-12D-A351-09		8110163	73085047	54	4506											
WFIKKN2	124857	genome.wustl.edu	37	chr17	48917817	48917817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcgtgcagcctgcccGccctgcaggggccctgcaaa	14	17	0	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr17:48917817G>A	ENST00000311378.4	+	2	1696	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A297T	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	390	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGCCTGCCCGCCCTGCAGGG	0.657																																																	0								ENSG00000173714						35	35	35					17																	48917817		2203	4297	6500	WFIKKN2	SO:0001583	missense	0			-	HGNC	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1168G>A	17.37:g.48917817G>A	ENSP00000311184:p.Ala390Thr	Somatic	0	33	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	Q6UXZ9	Missense_Mutation	SNP							pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.A390T	ENST00000311378.4	37	c.1168	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	g	15.29	2.788242	0.49997	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.58506	0.33;0.33	5.41	3.4	0.38934	Proteinase inhibitor I2, Kunitz metazoa (6);	0.098130	0.64402	D	0.000001	T	0.60612	0.2282	M	0.81802	2.56	0.42354	D	0.992382	P	0.38455	0.632	B	0.35240	0.198	T	0.66268	-0.5966	10	0.48119	T	0.1	.	17.3692	0.87371	0.0:0.1512:0.8488:0.0	.	390	Q8TEU8	WFKN2_HUMAN	T	297;390;96	ENSP00000405889:A297T;ENSP00000311184:A390T	ENSP00000311184:A390T	A	+	1	0	WFIKKN2	46272816	1.000000	0.71417	0.850000	0.33497	0.960000	0.62799	4.318000	0.59190	0.640000	0.30582	0.556000	0.70494	GCC	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m		0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	protein_coding	OTTHUMT00000368358.1	G	NM_175575	-		48917817	1	no_errors	ENST00000311378	ensembl	human	known	74_37	missense	SNP	0.883	A	A	48917817	G	A	48917817	3	1	80	1	0	0	0	0	1	0	0	0	17366	1087	38	1	1174	1	WFIKKN2	17	48917817	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	40807654	48917817	32277393	55	4507											
CACNG5	27091	genome.wustl.edu	37	chr17	64881179	64881179	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggccccaccctggcttctAccgccctcggctgagcaact	9	19	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr17:64881179A>T	ENST00000533854.1	+	6	887	c.650A>T	c.(649-651)tAc>tTc	p.Y217F	CACNG5_ENST00000307139.3_Missense_Mutation_p.Y217F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	217				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTGGCTTCTACCGCCCTCGG	0.622																																																	0								ENSG00000075429						62	55	57					17																	64881179		2203	4300	6503	CACNG5	SO:0001583	missense	0			-	HGNC	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.650A>T	17.37:g.64881179A>T	ENSP00000436836:p.Tyr217Phe	Somatic	0	28	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.Y217F	ENST00000533854.1	37	c.650	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363194	0.82353	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.44881	0.91;0.91	3.42	3.42	0.39159	.	.	.	.	.	T	0.46073	0.1374	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.19712	-1.0297	9	0.19590	T	0.45	.	12.1181	0.53875	1.0:0.0:0.0:0.0	.	217	Q9UF02	CCG5_HUMAN	F	217	ENSP00000436836:Y217F;ENSP00000303092:Y217F	ENSP00000303092:Y217F	Y	+	2	0	CACNG5	62311641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.462000	0.90374	1.815000	0.52974	0.491000	0.48974	TAC	-	NULL		0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	protein_coding	OTTHUMT00000389882.1	A	NM_014404, NM_145811	-		64881179	1	no_errors	ENST00000307139	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64881179	A	T	64881179	3	4	80	1	0	0	0	0	1	0	0	0	2562	391	14	5	985	5	CACNG5	17	64881179	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	15963362	64881179	16314031	56	4508											
RNF125	54941	genome.wustl.edu	37	chr18	29648272	29648272	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattgtaggattttaatatAattgaggaagctcttatccg	8	4	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr18:29648272A>T	ENST00000217740.3	+	6	1116	c.624A>T	c.(622-624)atA>atT	p.I208I	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	208					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						ATTTTAATATAATTGAGGAAG	0.338																																																	0								ENSG00000101695						42	44	43					18																	29648272		2198	4297	6495	RNF125	SO:0001819	synonymous_variant	0			-	HGNC	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"RING-type (C3HC4) zinc fingers"	21150	protein-coding gene	gene with protein product		610432	"ring finger protein 125"				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.624A>T	18.37:g.29648272A>T		Somatic	0	44	0		0.469240834679579	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	Q9NX39	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I208	ENST00000217740.3	37	c.624	CCDS11902.1	18																																																																																			-	NULL		0.338	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	protein_coding	OTTHUMT00000255354.1	A	NM_017831	-		29648272	1	no_errors	ENST00000217740	ensembl	human	known	74_37	silent	SNP	1.000	T	T	29648272	A	T	29648272	2	4	80	1	0	0	0	0	0	0	0	1	13442	352	13	5		5	RNF125	18	29648272	Silent	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09		29648272	48428976	57	4509											
NDUFA7	4701	genome.wustl.edu	37	chr19	8386227	8386227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgctggatgagacGggtggcggacgccatcttcc	15	14	1	1	rs553849517		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:8386227G>A	ENST00000301457.2	-	1	53	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R6C|RPS28_ENST00000600659.2_5'Flank	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	6					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						TGGATGAGACGGGTGGCGGAC	0.716													G|||	1	0.000199681	0	0	5008	,	,		11554	0		0.001	False		,,,				2504	0																0								ENSG00000267855						6	10	9					19																	8386227		1893	4051	5944	NDUFA7	SO:0001583	missense	0			-	HGNC	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.16C>T	19.37:g.8386227G>A	ENSP00000301457:p.Arg6Cys	Somatic	0	19	0		0.469240834679579	112	27.27	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57		Missense_Mutation	SNP							pfam_NADH-UbQ_OxRdtase_B14.5a_su	p.R6C	ENST00000301457.2	37	c.16	CCDS42492.1	19	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785850	0.70337	.	.	ENSG00000167774	ENST00000301457	T	0.47528	0.84	5.54	0.293	0.15742	.	0.140274	0.48286	D	0.000194	T	0.50582	0.1624	L	0.40543	1.245	0.09310	N	0.999998	D	0.76494	0.999	P	0.60609	0.877	T	0.44483	-0.9325	10	0.66056	D	0.02	-11.93	10.0863	0.42421	0.0:0.1155:0.4214:0.4631	.	6	O95182	NDUA7_HUMAN	C	6	ENSP00000301457:R6C	ENSP00000301457:R6C	R	-	1	0	NDUFA7	8292227	0.059000	0.20769	0.001000	0.08648	0.640000	0.38277	0.676000	0.25247	0.334000	0.23590	0.655000	0.94253	CGT	-	pfam_NADH-UbQ_OxRdtase_B14.5a_su		0.716	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA7	protein_coding	OTTHUMT00000461373.1	G	NM_005001	-		8386227	-1	no_errors	ENST00000301457	ensembl	human	known	74_37	missense	SNP	0.008	A	A	8386227	G	A	8386227	3	1	80	1	0	0	0	0	1	0	0	0	10272	1116	39	1	341	1	NDUFA7	19	8386227	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		8386227	50742756	58	4510											
DAND5	199699	genome.wustl.edu	37	chr19	13084345	13084345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctcgcaagcgttgggCacccgtggtcctgtggtgtc	15	13	0	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:13084345C>T	ENST00000317060.2	+	2	646	c.467C>T	c.(466-468)gCa>gTa	p.A156V	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	156	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			AAGCGTTGGGCACCCGTGGTC	0.592																																																	0								ENSG00000179284						161	133	143					19																	13084345		2203	4300	6503	DAND5	SO:0001583	missense	0			-	HGNC	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.467C>T	19.37:g.13084345C>T	ENSP00000323155:p.Ala156Val	Somatic	0	36	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	44	29.03		Missense_Mutation	SNP							pfam_DAN,pirsf_Cerberus	p.A156V	ENST00000317060.2	37	c.467	CCDS12291.1	19	.	.	.	.	.	.	.	.	.	.	C	4.366	0.067408	0.08388	.	.	ENSG00000179284	ENST00000317060	T	0.27256	1.68	5.67	-5.12	0.02893	DAN (1);	1.578800	0.04420	N	0.367407	T	0.08223	0.0205	N	0.01464	-0.85	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.44605	-0.9317	10	0.02654	T	1	1.6309	12.3056	0.54900	0.0:0.2422:0.0:0.7578	.	156	Q8N907	DAND5_HUMAN	V	156	ENSP00000323155:A156V	ENSP00000323155:A156V	A	+	2	0	DAND5	12945345	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.122000	0.10627	-0.658000	0.05366	0.655000	0.94253	GCA	-	pfam_DAN,pirsf_Cerberus		0.592	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DAND5	protein_coding	OTTHUMT00000452761.1	C	NM_152654	-		13084345	1	no_errors	ENST00000317060	ensembl	human	known	74_37	missense	SNP	0.000	T	T	13084345	C	T	13084345	3	4	80	1	0	0	0	0	1	0	0	0	4232	710	25	2	473	2	DAND5	19	13084345	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	4698118	13084345	46044638	59	4511											
PSG11	5680	genome.wustl.edu	37	chr19	43523004	43523004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagggtcctgcagtataCtttgtgacaccaaatagaaa	8	8	1	2	rs142166158		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:43523004C>A	ENST00000401740.1	-	3	730	c.627G>T	c.(625-627)aaG>aaT	p.K209N	PSG11_ENST00000403486.1_Missense_Mutation_p.K87N|PSG11_ENST00000320078.7_Missense_Mutation_p.K209N|PSG11_ENST00000306322.7_Missense_Mutation_p.K87N|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	209	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTGCAGTATACTTTGTGACAC	0.498																																																	0								ENSG00000243130	C	ASN/LYS,ASN/LYS,ASN/LYS	0,4400		0,0,2200	239	251	247		261,627,261	0	0	19	dbSNP_134	247	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	94,94,94	0,1,6497	AA,AC,CC		0.0116,0.0,0.0077	,,	87/214,209/336,87/214	43523004	1,12995	2200	4298	6498	PSG11	SO:0001583	missense	0			-	HGNC	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.627G>T	19.37:g.43523004C>A	ENSP00000384995:p.Lys209Asn	Somatic	0	166	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	201	12.61	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K209N	ENST00000401740.1	37	c.627	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	c	6.368	0.436084	0.12104	0.0	1.16E-4	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	1.13	-0.0155	0.13976	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13243	0.0321	L	0.46157	1.445	0.09310	N	1	P;B	0.38335	0.627;0.022	B;B	0.42827	0.399;0.06	T	0.27088	-1.0084	9	0.72032	D	0.01	.	2.9657	0.05907	0.0:0.6454:0.0:0.3546	.	87;209	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	209;87;87;209	ENSP00000319140:K209N;ENSP00000385427:K87N;ENSP00000304913:K87N;ENSP00000384995:K209N	ENSP00000304913:K87N	K	-	3	2	PSG11	48214844	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.155000	0.16362	0.567000	0.29293	0.184000	0.17185	AAG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.498	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	protein_coding	OTTHUMT00000323079.1	C	NM_002785	rs142166158		43523004	-1	no_errors	ENST00000320078	ensembl	human	known	74_37	missense	SNP	0.003	A	A	43523004	C	A	43523004	3	1	80	1	0	0	0	0	1	0	0	0	12659	564	20	3	392	3	PSG11	19	43523004	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	30438659	43523004	15605979	60	4512											
ZNF665	79788	genome.wustl.edu	37	chr19	53678802	53678802	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgagagaattctatggccAcatccttgaatgtcaactgt	8	10	2	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:53678802A>G	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.V13A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						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(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCTATGGCCACATCCTTGAA	0.433																																																	0								ENSG00000197497						119	120	120					19																	53678802		2203	4300	6503	ZNF665	SO:0001627	intron_variant	0			-	HGNC		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9202T>C	19.37:g.53678802A>G		Somatic	0	86	0		0.469240834679579	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	152	10.00	A8K5T8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V13A	ENST00000600412.1	37	c.38		19	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195162	0.58017	.	.	ENSG00000197497	ENST00000396424	T	0.10382	2.88	2.67	2.67	0.31697	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.23454	N	0.997643	D	0.69078	0.997	D	0.64042	0.921	T	0.02844	-1.1103	8	0.87932	D	0	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	13	Q9H7R5-2	.	A	13	ENSP00000379702:V13A	ENSP00000379702:V13A	V	-	2	0	ZNF665	58370614	0.995000	0.38212	0.994000	0.49952	0.876000	0.50452	3.360000	0.52299	1.214000	0.43395	0.533000	0.62120	GTG	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	protein_coding	OTTHUMT00000464179.1	A	NM_024733	-		53678802	-1	no_errors	ENST00000396424	ensembl	human	known	74_37	missense	SNP	1.000	G	G	53678802	A	G	53678802	1	3	80	0	1	0	0	0	0	0	0	0	18080	159	6	5		5	ZNF665	19	53678802	Intron	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	10155798	53678802	5450181	61	4513											
NLRP12	91662	genome.wustl.edu	37	chr19	54314363	54314363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtcccacggtcctcgCgtgtccccggcctgtgtcca	12	17	0	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:54314363C>T	ENST00000324134.6	-	3	718	c.550G>A	c.(550-552)Gcg>Acg	p.A184T	NLRP12_ENST00000345770.5_Missense_Mutation_p.A184T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A184T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGGTCCTCGCGTGTCCCCGG	0.642																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000142405						85	70	75					19																	54314363		2203	4300	6503	NLRP12	SO:0001583	missense	0			-	HGNC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.550G>A	19.37:g.54314363C>T	ENSP00000319377:p.Ala184Thr	Somatic	0	19	0		0.469240834679579	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A184T	ENST00000324134.6	37	c.550	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	5.330	0.246174	0.10130	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.04	-2.75	0.05914	.	0.569423	0.14536	N	0.313599	T	0.73385	0.3580	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.31968	0.349;0.036;0.008;0.036	B;B;B;B	0.20955	0.032;0.007;0.002;0.007	T	0.61397	-0.7071	10	0.36615	T	0.2	.	1.4061	0.02281	0.2935:0.3937:0.1351:0.1778	.	184;184;184;184	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	184	ENSP00000319377:A184T;ENSP00000438030:A184T;ENSP00000340473:A184T;ENSP00000346231:A184T;ENSP00000375655:A184T;ENSP00000375653:A184T;ENSP00000375652:A184T	ENSP00000319377:A184T	A	-	1	0	NLRP12	59006175	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.692000	0.05127	-0.630000	0.05567	0.297000	0.19635	GCG	-	NULL		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	C	NM_144687	-		54314363	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	SNP	0.000	T	T	54314363	C	T	54314363	3	4	80	1	0	0	0	0	1	0	0	0	10476	768	27	1	2763	1	NLRP12	19	54314363	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	635561	54314363	4814620	62	4514											
LILRB3	11025	genome.wustl.edu	37	chr19	54723010	54723010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactcaccagatgtcctgtGtttgctgtgacgctgacgtc	10	12	1	3			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:54723010G>A	ENST00000391750.1	-	9	1550	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.H472Y|LILRA6_ENST00000440558.2_Missense_Mutation_p.H472Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.H472Y|LILRB3_ENST00000407860.2_Missense_Mutation_p.H489Y|LILRB3_ENST00000245620.9_Missense_Mutation_p.H472Y|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.H484Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.H472Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	472					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GATGTCCTGTGTTTGCTGTGA	0.612																																																	0								ENSG00000204577						143	108	120					19																	54723010		2203	4300	6503	LILRB3	SO:0001583	missense	0			-	HGNC	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1414C>T	19.37:g.54723010G>A	ENSP00000375630:p.His472Tyr	Somatic	0	58	0		0.469240834679579	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	58	10.77	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H489Y	ENST00000391750.1	37	c.1465	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.244540	0.00271	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00493	7.02;7.02;7.02;7.02;7.0;7.0;7.02;7.03	2.82	-5.64	0.02466	.	9.129300	0.00496	U	0.000154	T	0.00637	0.0021	M	0.62723	1.935	0.09310	N	1	P;P;P;P;B;B;B	0.49696	0.814;0.927;0.692;0.902;0.065;0.006;0.01	B;P;B;P;B;B;B	0.51582	0.424;0.628;0.157;0.674;0.064;0.017;0.037	T	0.57365	-0.7824	10	0.02654	T	1	.	3.4894	0.07632	0.3128:0.4473:0.1276:0.1123	.	489;472;472;484;489;472;472	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	Y	472;472;484;472;489;472;472;472	ENSP00000375630:H472Y;ENSP00000412771:H472Y;ENSP00000345184:H484Y;ENSP00000245620:H472Y;ENSP00000384274:H489Y;ENSP00000390120:H472Y;ENSP00000270464:H472Y;ENSP00000411227:H472Y	ENSP00000270464:H472Y	H	-	1	0	LILRB3;LILRA6	59414822	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.243000	0.00543	-3.171000	0.00225	0.447000	0.29281	CAC	-	NULL		0.612	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	protein_coding	OTTHUMT00000142844.5	G	NM_006864	-		54723010	-1	no_errors	ENST00000407860	ensembl	human	known	74_37	missense	SNP	0.000	A	A	54723010	G	A	54723010	3	1	80	1	0	0	0	0	1	0	0	0	8794	1377	48	2	508	2	LILRB3	19	54723010	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	408647	54723010	4405973	63	4515											
PI3	5266	genome.wustl.edu	37	chr20	43804753	43804753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgaaggctcttgcgggAtggcctgtttcgttccccag	14	11	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:43804753A>C	ENST00000243924.3	+	2	378	c.331A>C	c.(331-333)Atg>Ctg	p.M111L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	111	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTCTTGCGGGATGGCCTGTTT	0.542																																																	0								ENSG00000124102						96	87	90					20																	43804753		2203	4300	6503	PI3	SO:0001583	missense	0			-	HGNC	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"WAP four-disulfide core domain containing"	8947	protein-coding gene	gene with protein product	"skin-derived antileukoproteinase", "trappin-2"	182257	"protease inhibitor 3, skin-derived (SKALP)"			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.331A>C	20.37:g.43804753A>C	ENSP00000243924:p.Met111Leu	Somatic	0	29	0		0.469240834679579	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	73	18.89	E1P618|Q6FG74	Missense_Mutation	SNP							pfam_Trappin_transglut-bd_rpt,pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core	p.M111L	ENST00000243924.3	37	c.331	CCDS13344.1	20	.	.	.	.	.	.	.	.	.	.	A	9.739	1.164313	0.21538	.	.	ENSG00000124102	ENST00000243924	T	0.70749	-0.51	4.49	-1.04	0.10068	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	2.549720	0.01903	N	0.039326	T	0.48892	0.1525	N	0.05592	-0.015	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.28996	-1.0026	10	0.29301	T	0.29	.	5.0718	0.14611	0.3561:0.3473:0.0:0.2966	.	111	P19957	ELAF_HUMAN	L	111	ENSP00000243924:M111L	ENSP00000243924:M111L	M	+	1	0	PI3	43238167	0.024000	0.19004	0.000000	0.03702	0.011000	0.07611	0.127000	0.15790	-0.326000	0.08564	-0.321000	0.08615	ATG	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core		0.542	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI3	protein_coding	OTTHUMT00000079418.3	A	NM_002638	-		43804753	1	no_errors	ENST00000243924	ensembl	human	known	74_37	missense	SNP	0.001	C	C	43804753	A	C	43804753	3	2	80	1	0	0	0	0	1	0	0	0	11872	333	12	5	337	5	PI3	20	43804753	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09		43804753	19220767	64	4516											
NCOA3	8202	genome.wustl.edu	37	chr20	46279839	46279839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcagcagcagca	12	14	0	0	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000341724.6_Silent_p.Q1181Q|NCOA3_ENST00000371997.3_Silent_p.Q1246Q|NCOA3_ENST00000372004.3_Silent_p.Q1251Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	Acetyltransferase.|Poly-Gln.				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)	p.Q1255delQ(1)		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						agcagcaacagcagcagcagc	0.557																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)						ENSG00000124151						41	44	43					20																	46279839		2202	4300	6502	NCOA3	SO:0001819	synonymous_variant	0			-	HGNC	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.3765G>A	20.37:g.46279839G>A		Somatic	0	37	0		0.469240834679579	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP							pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1255	ENST00000371998.3	37	c.3765	CCDS13407.1	20																																																																																			-	pirsf_Nuclear_rcpt_coactivator		0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	protein_coding	OTTHUMT00000080405.1	G	NM_006534	rs2664555		46279839	1	no_errors	ENST00000371998	ensembl	human	known	74_37	silent	SNP	0.598	A	A	46279839	G	A	46279839	2	1	80	1	0	0	0	0	0	0	0	1	10232	962	34	2		2	NCOA3	20	46279839	Silent	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	2475086	46279839	16745681	65	4517											
SPO11	23626	genome.wustl.edu	37	chr20	55908249	55908249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaacaaaatgacaggtttgAagattctgtgggtcttcaga	10	5	3	4			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:55908249A>T	ENST00000371263.3	+	3	360	c.251A>T	c.(250-252)gAa>gTa	p.E84V	SPO11_ENST00000371260.4_Missense_Mutation_p.E46V|SPO11_ENST00000345868.4_Missense_Mutation_p.E46V	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	84					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GACAGGTTTGAAGATTCTGTG	0.323								Editing and processing nucleases																																									0								ENSG00000054796						80	84	82					20																	55908249		2203	4300	6503	SPO11	SO:0001583	missense	0			-	HGNC	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.251A>T	20.37:g.55908249A>T	ENSP00000360310:p.Glu84Val	Somatic	0	55	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	130	10.96	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP							pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.E84V	ENST00000371263.3	37	c.251	CCDS13456.1	20	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789082	0.49997	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.20738	2.18;2.05;2.05;2.19	5.39	4.27	0.50696	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.398475	0.30704	N	0.009049	T	0.17534	0.0421	L	0.44542	1.39	0.28984	N	0.888467	B;B	0.32573	0.376;0.164	B;B	0.29942	0.109;0.051	T	0.07462	-1.0771	10	0.30854	T	0.27	-12.4168	11.5955	0.50970	0.8514:0.1486:0.0:0.0	.	46;84	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	V	84;46;46;62	ENSP00000360310:E84V;ENSP00000316034:E46V;ENSP00000360307:E46V;ENSP00000413185:E62V	ENSP00000316034:E46V	E	+	2	0	SPO11	55341656	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.443000	0.52907	0.961000	0.38030	0.482000	0.46254	GAA	-	NULL		0.323	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	protein_coding	OTTHUMT00000079836.2	A	NM_012444	-		55908249	1	no_errors	ENST00000371263	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55908249	A	T	55908249	3	4	80	1	0	0	0	0	1	0	0	0	15084	246	9	5	261	5	SPO11	20	55908249	Missense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	9628410	55908249	7117271	66	4518											
ZNF831	128611	genome.wustl.edu	37	chr20	57768815	57768815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagccccagcccccgCagagcacccctcgctggcca	9	22	0	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:57768815C>A	ENST00000371030.2	+	1	2741	c.2741C>A	c.(2740-2742)gCa>gAa	p.A914E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	914							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGCCCCCGCAGAGCACCCC	0.632																																																	0								ENSG00000124203						30	32	31					20																	57768815		1931	4132	6063	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2741C>A	20.37:g.57768815C>A	ENSP00000360069:p.Ala914Glu	Somatic	0	86	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	222	8.23	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A914E	ENST00000371030.2	37	c.2741	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409912	0.25465	.	.	ENSG00000124203	ENST00000371030	T	0.04862	3.54	4.53	1.47	0.22746	.	0.780999	0.11218	N	0.586995	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	10	0.62326	D	0.03	-3.9229	3.4056	0.07340	0.0957:0.171:0.5582:0.1751	.	914	Q5JPB2	ZN831_HUMAN	E	914	ENSP00000360069:A914E	ENSP00000360069:A914E	A	+	2	0	ZNF831	57202210	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.213000	0.17521	0.116000	0.18110	-0.128000	0.14901	GCA	-	NULL		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	C	NM_178457	-		57768815	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.002	A	A	57768815	C	A	57768815	3	1	80	1	0	0	0	0	1	0	0	0	18192	710	25	3	2743	3	ZNF831	20	57768815	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	1860566	57768815	5256705	67	4519											
TPTE	7179	genome.wustl.edu	37	chr21	10942923	10942923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttttgcccacttacccGccttcttatcagcttttcaa	4	14	3	0	rs76723236	byFrequency	TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr21:10942923G>A	ENST00000361285.4	-	12	993	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	TPTE_ENST00000298232.7_Missense_Mutation_p.R204W|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R184W	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	222					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CCACTTACCCGCCTTCTTATC	0.318																																																	0								ENSG00000166157						104	94	98					21																	10942923		2203	4299	6502	TPTE	SO:0001583	missense	0			-	HGNC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.664C>T	21.37:g.10942923G>A	ENSP00000355208:p.Arg222Trp	Somatic	0	153	0		0.469240834679579	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	345	10.82	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R222W	ENST00000361285.4	37	c.664	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110372	0.20714	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.97455	-4.39;-4.39;-4.39	2.07	-0.258	0.12975	.	0.147653	0.64402	U	0.000017	D	0.92890	0.7738	N	0.14661	0.345	0.20196	N	0.999925	D;D;B	0.56521	0.976;0.976;0.042	B;P;B	0.52710	0.279;0.707;0.008	D	0.87285	0.2295	10	0.72032	D	0.01	-5.1188	4.2955	0.10899	0.1714:0.0:0.5546:0.2741	.	184;204;222	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	W	204;222;184	ENSP00000298232:R204W;ENSP00000355208:R222W;ENSP00000344441:R184W	ENSP00000298232:R204W	R	-	1	2	TPTE	9964794	0.985000	0.35326	0.103000	0.21229	0.018000	0.09664	0.502000	0.22594	-0.070000	0.12908	0.194000	0.17425	CGG	-	NULL		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	G		rs76723236		10942923	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	SNP	0.999	A	A	10942923	G	A	10942923	3	1	80	1	0	0	0	0	1	0	0	0	16437	1086	38	1	1043	1	TPTE	21	10942923	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09		10942923	37186972	68	4520											
IFNAR1	3454	genome.wustl.edu	37	chr21	34697383	34697383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcgtcctcctgggcgCgacgaccctagtgctcgtcg	14	14	0	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr21:34697383C>A	ENST00000270139.3	+	1	175	c.23C>A	c.(22-24)gCg>gAg	p.A8E	IFNAR1_ENST00000442357.2_Missense_Mutation_p.A8E|IFNAR1_ENST00000416947.2_Intron|IFNAR1_ENST00000493503.1_Intron	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	8					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CTCCTGGGCGCGACGACCCTA	0.682																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												0								ENSG00000142166						27	20	22					21																	34697383		2200	4298	6498	IFNAR1	SO:0001583	missense	0			-	HGNC		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.23C>A	21.37:g.34697383C>A	ENSP00000270139:p.Ala8Glu	Somatic	0	49	0		0.469240834679579	23	31.43	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	52	28.77	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP							pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.A8E	ENST00000270139.3	37	c.23	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530070	0.45073	.	.	ENSG00000142166	ENST00000270139;ENST00000442071;ENST00000442357	T;T;T	0.64438	1.04;0.49;-0.1	3.33	1.51	0.23008	.	1.861860	0.02430	N	0.083468	T	0.76118	0.3943	M	0.73962	2.25	0.47737	D	0.999501	D	0.63880	0.993	D	0.66847	0.947	T	0.62586	-0.6823	10	0.87932	D	0	-3.5201	2.9153	0.05750	0.2174:0.5418:0.0:0.2409	.	8	P17181	INAR1_HUMAN	E	8	ENSP00000270139:A8E;ENSP00000400161:A8E;ENSP00000407406:A8E	ENSP00000270139:A8E	A	+	2	0	IFNAR1	33619253	0.000000	0.05858	0.058000	0.19502	0.869000	0.49853	0.032000	0.13732	0.409000	0.25649	0.655000	0.94253	GCG	-	pirsf_Interferon_alpha/beta_rcpt-1		0.682	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	protein_coding	OTTHUMT00000139823.4	C		-		34697383	1	no_errors	ENST00000270139	ensembl	human	known	74_37	missense	SNP	0.304	A	A	34697383	C	A	34697383	3	1	80	1	0	0	0	0	1	0	0	0	7546	768	27	3	25	3	IFNAR1	21	34697383	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09	23754460	34697383	13432512	69	4521											
PWP2	5822	genome.wustl.edu	37	chr21	45539347	45539347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacttcaacagcatggtGgccctggcctactcgcccga	11	16	1	0			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr21:45539347G>A	ENST00000291576.7	+	10	1258	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	377					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACAGCATGGTGGCCCTGGCCT	0.667																																																	0								ENSG00000241945						41	28	32					21																	45539347		2196	4292	6488	PWP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1131G>A	21.37:g.45539347G>A		Somatic	0	81	0		0.469240834679579	27	15.62	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	94	16.07	B2RAG8|Q96A77	Silent	SNP							pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V377	ENST00000291576.7	37	c.1131	CCDS33579.1	21																																																																																			-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	protein_coding	OTTHUMT00000195736.3	G	NM_005049	-		45539347	1	no_errors	ENST00000291576	ensembl	human	known	74_37	silent	SNP	0.836	A	A	45539347	G	A	45539347	2	1	80	1	0	0	0	0	0	0	0	1	12852	1335	47	2		2	PWP2	21	45539347	Silent	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	10841964	45539347	2590548	70	4522											
ARVCF	421	genome.wustl.edu	37	chr22	19961646	19961646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctcaccatccagttgcCggcactgaggttctgcagag	11	14	2	2			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr22:19961646C>T	ENST00000263207.3	-	12	2368	c.2077G>A	c.(2077-2079)Ggc>Agc	p.G693S	ARVCF_ENST00000401994.1_Missense_Mutation_p.G630S|ARVCF_ENST00000406522.1_Missense_Mutation_p.G624S|ARVCF_ENST00000344269.3_Missense_Mutation_p.G630S|ARVCF_ENST00000406259.1_Missense_Mutation_p.G687S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	693					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ATCCAGTTGCCGGCACTGAGG	0.667																																																	0								ENSG00000099889						51	52	52					22																	19961646		2203	4300	6503	ARVCF	SO:0001583	missense	0			-	HGNC		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2077G>A	22.37:g.19961646C>T	ENSP00000263207:p.Gly693Ser	Somatic	0	72	0		0.469240834679579	12	29.41	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	89	32.06	B7WNV2	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G693S	ENST00000263207.3	37	c.2077	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.336089	0.95758	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.955;1.0	T	0.70945	-0.4734	9	.	.	.	-12.0975	16.8906	0.86086	0.0:1.0:0.0:0.0	.	693;209	O00192;E7EV58	ARVC_HUMAN;.	S	693;630;630;624;687	ENSP00000263207:G693S;ENSP00000342042:G630S;ENSP00000384341:G630S;ENSP00000384732:G624S;ENSP00000385444:G687S	.	G	-	1	0	ARVCF	18341646	1.000000	0.71417	0.959000	0.39883	0.959000	0.62525	5.703000	0.68340	2.596000	0.87737	0.561000	0.74099	GGC	-	superfamily_ARM-type_fold		0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	protein_coding	OTTHUMT00000075314.5	C	NM_001670	-		19961646	-1	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19961646	C	T	19961646	3	4	80	1	0	0	0	0	1	0	0	0	1003	652	23	1	843	1	ARVCF	22	19961646	Missense_Mutation	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		19961646	31342920	71	4523											
PNPLA3	80339	genome.wustl.edu	37	chr22	44335890	44335890	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgagtgaagaaatgAaagacaaaggtggatacatg	12	5	0	5			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr22:44335890A>T	ENST00000216180.3	+	7	1170	c.997A>T	c.(997-999)Aaa>Taa	p.K333*	PNPLA3_ENST00000423180.2_Nonsense_Mutation_p.K329*	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	333					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGAAGAAATGAAAGACAAAGG	0.418																																																	0								ENSG00000100344						161	148	152					22																	44335890		2203	4300	6503	PNPLA3	SO:0001587	stop_gained	0			-	HGNC		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.997A>T	22.37:g.44335890A>T	ENSP00000216180:p.Lys333*	Somatic	0	52	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	55	25.68	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Nonsense_Mutation	SNP							pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.K333*	ENST00000216180.3	37	c.997	CCDS14054.1	22	.	.	.	.	.	.	.	.	.	.	A	33	5.197420	0.94960	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	.	.	.	5.3	4.27	0.50696	.	0.899372	0.09383	N	0.809666	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7297	8.0992	0.30846	0.9077:0.0:0.0923:0.0	.	.	.	.	X	333;329	.	ENSP00000216180:K333X	K	+	1	0	PNPLA3	42667223	0.082000	0.21442	0.007000	0.13788	0.011000	0.07611	3.224000	0.51238	0.842000	0.35045	0.374000	0.22700	AAA	-	NULL		0.418	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	protein_coding	OTTHUMT00000318891.1	A	NM_025225	-		44335890	1	no_errors	ENST00000216180	ensembl	human	known	74_37	nonsense	SNP	0.077	T	T	44335890	A	T	44335890	4	4	80	1	0	0	0	0	0	1	0	0	12168	247	9	5	1023	5	PNPLA3	22	44335890	Nonsense_Mutation	SNP	A	TCGA-DX-A6YZ-01A-12D-A351-09	24374244	44335890	6968676	72	4524											
MUM1L1	139221	genome.wustl.edu	37	chrX	105450550	105450550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgatgatgaggaagaCgaagaacttccacgcttcat	10	7	1	6	rs367590084		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chrX:105450550C>T	ENST00000357175.2	+	4	1774	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	MUM1L1_ENST00000337685.2_Silent_p.D375D|MUM1L1_ENST00000372552.1_Silent_p.D375D	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	375						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGAGGAAGACGAAGAACTTC	0.388																																																	0								ENSG00000157502	C	,	0,3146		0,0,1288,570	41	35	37		1125,1125	-8.9	0	X		37	1,6406		0,1,2312,1781	no	coding-synonymous,coding-synonymous	MUM1L1	NM_001171020.1,NM_152423.4	,	0,1,3600,2351	TT,TC,CC,C		0.0156,0.0,0.0105	,	375/697,375/697	105450550	1,9552	1858	4094	5952	MUM1L1	SO:0001819	synonymous_variant	0			-	HGNC	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1125C>T	X.37:g.105450550C>T		Somatic	0	32	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP							superfamily_PyrdxlP-dep_Trfase	p.D375	ENST00000357175.2	37	c.1125	CCDS55469.1	X																																																																																			-	NULL		0.388	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	protein_coding	OTTHUMT00000057795.1	C	NM_152423	-		105450550	1	no_errors	ENST00000337685	ensembl	human	known	74_37	silent	SNP	0.003	T	T	105450550	C	T	105450550	2	4	80	1	0	0	0	0	0	0	0	1	9988	535	19	1		1	MUM1L1	23	105450550	Silent	SNP	C	TCGA-DX-A6YZ-01A-12D-A351-09		105450550	49820010	73	4525											
COL4A5	1287	genome.wustl.edu	37	chrX	107924142	107924142	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggacccagtggagtacctgGatcagctggccctgaggggg	17	10	1	1			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chrX:107924142G>C	ENST00000361603.2	+	44	4269	c.4025G>C	c.(4024-4026)gGa>gCa	p.G1342A	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1348A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1342	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAGTACCTGGATCAGCTGGC	0.443									Alport syndrome with Diffuse Leiomyomatosis																																								0								ENSG00000188153						131	121	124					X																	107924142		2203	4299	6502	COL4A5	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4025G>C	X.37:g.107924142G>C	ENSP00000354505:p.Gly1342Ala	Somatic	0	40	0		0.469240834679579	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1348A	ENST00000361603.2	37	c.4043	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013667	0.75161	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99607	-6.27;-6.27	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.97103	3.94	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.996	D	0.96890	0.9652	10	0.72032	D	0.01	.	18.2781	0.90089	0.0:0.0:1.0:0.0	.	1345;1342	E7EVY4;P29400	.;CO4A5_HUMAN	A	1348;1342;1348	ENSP00000331902:G1348A;ENSP00000354505:G1342A	ENSP00000331902:G1348A	G	+	2	0	COL4A5	107810798	1.000000	0.71417	0.982000	0.44146	0.513000	0.34164	9.076000	0.94009	2.255000	0.74692	0.506000	0.49869	GGA	-	pfam_Collagen		0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	protein_coding	OTTHUMT00000057880.2	G		-		107924142	1	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	SNP	1.000	C	C	107924142	G	C	107924142	3	2	80	1	0	0	0	0	1	0	0	0	3696	1174	41	4	4210	4	COL4A5	23	107924142	Missense_Mutation	SNP	G	TCGA-DX-A6YZ-01A-12D-A351-09	2473592	107924142	47346418	74	4526											
CCDC27	148870	genome.wustl.edu	37	chr1	3679935	3679935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctccctggccgagtcGtttgaggaggagctgctggc	15	13	0	1	rs201495912		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr1:3679935G>A	ENST00000294600.2	+	7	1302	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	406	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGCCGAGTCGTTTGAGGAGG	0.607													G|||	1	0.000199681	0	0	5008	,	,		18046	0		0.001	False		,,,				2504	0																0								ENSG00000162592			0,4406		0,0,2203	63	63	63		1218	-5.7	0	1		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC27	NM_152492.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		406/657	3679935	1,13005	2203	4300	6503	CCDC27	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1218G>A	1.37:g.3679935G>A		Somatic	0	61	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	78	23.53	Q5TBV3|Q96M50	Silent	SNP							superfamily_Prefoldin	p.S406	ENST00000294600.2	37	c.1218	CCDS50.1	1																																																																																			-	NULL		0.607	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	G	NM_152492	rs201495912		3679935	1	no_errors	ENST00000294600	ensembl	human	known	74_37	silent	SNP	0.000	A	A	3679935	G	A	3679935	2	1	81	1	0	0	0	0	0	0	0	1	2803	1132	40	1		1	CCDC27	1	3679935	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		3679935	245570686	1	4527											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74929126	74929126	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaccatttggtttgcagcGgctgcggcagcagacatggc	14	10	0	2	rs145840620		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr1:74929126G>T	ENST00000370899.3	+	23	2353	c.2316G>T	c.(2314-2316)gcG>gcT	p.A772A	TNNI3K_ENST00000370891.2_Splice_Site_p.A772A|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.A785A|TNNI3K_ENST00000326637.3_Splice_Site_p.A671A	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGTTTGCAGCGGCTGCGGCAG	0.443																																																	0								ENSG00000259030						147	143	144					1																	74929126		2203	4300	6503	FPGT-TNNI3K	SO:0001630	splice_region_variant	0			-	HGNC			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2315-1G>T	1.37:g.74929126G>T		Somatic	0	58	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Silent	SNP							pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A785	ENST00000370899.3	37	c.2355		1																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.443	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	protein_coding	OTTHUMT00000026438.3	G		-	Silent	74929126	1	no_errors	ENST00000557284	ensembl	human	known	74_37	silent	SNP	0.977	T	T	74929126	G	T	74929126	5	4	81	1	0	0	0	0	0	0	1	0	16336	1130	39	3	2450	3	TNNI3K	1	74929126	Splice_Site	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	71249191	74929126	174321495	2	4528											
F3	2152	genome.wustl.edu	37	chr1	94998750	94998750	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccttctgactaaagtccGttcatcttctacggtcacat	6	12	5	1	rs5901	byFrequency	TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr1:94998750G>T	ENST00000334047.7	-	4	650	c.487C>A	c.(487-489)Cgg>Agg	p.R163R	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.R163R	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	163			R -> W (in dbSNP:rs5901).		activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ACTAAAGTCCGTTCATCTTCT	0.403																																					Melanoma(40;358 1339 15970 39161)												0								ENSG00000117525						133	118	123					1																	94998750		2203	4300	6503	F3	SO:0001819	synonymous_variant	0			-	HGNC	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"CD molecules"	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.487C>A	1.37:g.94998750G>T		Somatic	0	57	0		0.659797275363318	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D3DT47|Q6FHG2|Q86WH4	Silent	SNP							pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	p.R163	ENST00000334047.7	37	c.487	CCDS750.1	1																																																																																			-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor		0.403	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F3	protein_coding	OTTHUMT00000029593.1	G	NM_001993	-		94998750	-1	no_errors	ENST00000334047	ensembl	human	known	74_37	silent	SNP	0.000	T	T	94998750	G	T	94998750	2	4	81	1	0	0	0	0	0	0	0	1	5349	1144	40	3		3	F3	1	94998750	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	20069624	94998750	154251871	3	4529											
RHBG	57127	genome.wustl.edu	37	chr1	156354347	156354348	+	Frame_Shift_Ins	INS	-	-	C													gaagctaccctttctggactINSccccccccagactcccagca					rs71591938|rs11303415|rs587735548	byFrequency	TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr1:156354347_156354348insC	ENST00000368249.1	+	9	1302_1303	c.1264_1265insC	c.(1264-1266)tccfs	p.S422fs	RHBG_ENST00000494874.1_Intron|RHBG_ENST00000255013.3_Frame_Shift_Ins_p.S353fs|RHBG_ENST00000368246.2_Splice_Site|RHBG_ENST00000400992.2_Frame_Shift_Ins_p.S390fs	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	422	Interaction with ANK3.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R425fs*>17(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTTCTGGACTCCCCCCCCAGA	0.634											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Deletion - Frameshift(1)	ovary(1)						ENSG00000132677																																			RHBG	SO:0001589	frameshift_variant	0				HGNC	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1272dupC	1.37:g.156354355_156354355dupC	ENSP00000357232:p.Ser422fs	Somatic	0	71	0	1777	0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	97	17.80	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Frame_Shift_Ins	INS							pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.R393fs	ENST00000368249.1	37	c.1168_1169		1																																																																																			-	superfamily_NH4_transpt_AmtB-like_dom		0.634	RHBG-001	NOVEL	basic	protein_coding	RHBG	protein_coding	OTTHUMT00000060589.2	-	NM_001256395			156354348	1	no_errors	ENST00000400992	ensembl	human	known	74_37	frame_shift_ins	INS	0.006:0.723	C	C	156354348	-	C	156354347	7	5	81	1	0	1	1	0	0	0	0	0	13332	1551	54	0	1298	0	RHBG	1	156354347	Frame_Shift_Ins	INS	-	TCGA-DX-A6Z0-01A-13D-A36J-09	61355597	156354347	92896274	4	4530											
CNTN2	6900	genome.wustl.edu	37	chr1	205030406	205030406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagtggcgcaaagtggaCggctccctgtccccgcagtg	13	13	1	0	rs199743054		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr1:205030406C>T	ENST00000331830.4	+	8	1115	c.831C>T	c.(829-831)gaC>gaT	p.D277D	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	277	Ig-like C2-type 3.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAAAGTGGACGGCTCCCTGT	0.652											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)												0								ENSG00000184144						91	69	77					1																	205030406		2203	4300	6503	CNTN2	SO:0001819	synonymous_variant	0			-	HGNC	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.831C>T	1.37:g.205030406C>T		Somatic	0	30	0	2149	0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	P78432|Q5T054	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D277	ENST00000331830.4	37	c.831	CCDS1449.1	1																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.652	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	protein_coding	OTTHUMT00000090080.3	C	NM_005076	rs199743054		205030406	1	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	SNP	0.974	T	T	205030406	C	T	205030406	2	4	81	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNTN2	1	205030406	Silent	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	48676059	205030406	44220215	5	4531											
USH2A	7399	genome.wustl.edu	37	chr1	216500945	216500945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttacctgtttgtaagtGccacttggtataatcgaaaa	8	8	0	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr1:216500945G>T	ENST00000307340.3	-	5	1222	c.836C>A	c.(835-837)gCa>gAa	p.A279E	USH2A_ENST00000366942.3_Missense_Mutation_p.A279E|USH2A_ENST00000366943.2_Missense_Mutation_p.A279E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	279	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTGTAAGTGCCACTTGGTA	0.353										HNSCC(13;0.011)																																							0								ENSG00000042781						154	147	150					1																	216500945		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.836C>A	1.37:g.216500945G>T	ENSP00000305941:p.Ala279Glu	Somatic	0	58	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.A279E	ENST00000307340.3	37	c.836	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043913	0.93685	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.80994	-1.44;-1.44;-1.44	5.76	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin, N-terminal (2);	0.183135	0.25839	U	0.027978	D	0.86806	0.6021	M	0.61703	1.905	0.38266	D	0.942013	D;D	0.69078	0.997;0.993	P;D	0.63192	0.904;0.912	D	0.89237	0.3581	10	0.66056	D	0.02	.	14.6527	0.68808	0.0696:0.0:0.9304:0.0	.	279;279	O75445-2;O75445	.;USH2A_HUMAN	E	279	ENSP00000305941:A279E;ENSP00000355910:A279E;ENSP00000355909:A279E	ENSP00000305941:A279E	A	-	2	0	USH2A	214567568	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.137000	0.77295	1.441000	0.47550	0.563000	0.77884	GCA	-	superfamily_ConA-like_lec_gl_sf,smart_LamG-like,smart_Laminin_N,pfscan_Laminin_N		0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		216500945	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216500945	G	T	216500945	3	4	81	1	0	0	0	0	1	0	0	0	17043	1319	46	3	15058	3	USH2A	1	216500945	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	11470539	216500945	32749676	6	4532											
LPIN1	23175	genome.wustl.edu	37	chr2	11955338	11955338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggcccctgctgctgagtCccagcagcctcttctctgcc	11	17	2	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr2:11955338C>T	ENST00000256720.2	+	17	2359	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	LPIN1_ENST00000404113.2_Missense_Mutation_p.P257S|LPIN1_ENST00000396097.1_Missense_Mutation_p.P486S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P798S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P841S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P762S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	756	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCTGCTGAGTCCCAGCAGCCT	0.637																																																	0								ENSG00000134324						26	29	28					2																	11955338		2203	4300	6503	LPIN1	SO:0001583	missense	0			-	HGNC	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2266C>T	2.37:g.11955338C>T	ENSP00000256720:p.Pro756Ser	Somatic	0	33	0		0.659797275363318	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP							pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.P841S	ENST00000256720.2	37	c.2521	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610375	0.66558	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.94	4.05	0.47172	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.051910	0.85682	D	0.000000	D	0.93180	0.7828	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.97	D;D;D	0.97110	1.0;1.0;0.992	D	0.94287	0.7525	10	0.87932	D	0	-23.1896	15.2248	0.73342	0.0:0.8586:0.1414:0.0	.	257;841;756	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	S	841;798;762;756;486;257	ENSP00000397908:P841S;ENSP00000379406:P798S;ENSP00000401522:P762S;ENSP00000256720:P756S;ENSP00000379404:P486S;ENSP00000386120:P257S	ENSP00000256720:P756S	P	+	1	0	LPIN1	11872789	1.000000	0.71417	0.992000	0.48379	0.458000	0.32498	7.338000	0.79269	1.061000	0.40601	-0.310000	0.09108	CCC	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.637	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	protein_coding	OTTHUMT00000239296.3	C	NM_145693	-		11955338	1	no_errors	ENST00000449576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11955338	C	T	11955338	3	4	81	1	0	0	0	0	1	0	0	0	8920	855	30	2	2328	2	LPIN1	2	11955338	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		11955338	231244035	7	4533											
SLC9A2	6549	genome.wustl.edu	37	chr2	103274465	103274465	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctttggagagtccctGctgaatgatgcagtaacagt	12	8	1	3			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr2:103274465G>T	ENST00000233969.2	+	2	874	c.732G>T	c.(730-732)ctG>ctT	p.L244L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	244					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAGTCCCTGCTGAATGATG	0.532																																																	0								ENSG00000115616						154	144	147					2																	103274465		2203	4300	6503	SLC9A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.732G>T	2.37:g.103274465G>T		Somatic	0	42	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B2RMS2	Silent	SNP							pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L244	ENST00000233969.2	37	c.732	CCDS2062.1	2																																																																																			-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.532	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	protein_coding	OTTHUMT00000253292.2	G		-		103274465	1	no_errors	ENST00000233969	ensembl	human	known	74_37	silent	SNP	1.000	T	T	103274465	G	T	103274465	2	4	81	1	0	0	0	0	0	0	0	1	14720	1306	46	3		3	SLC9A2	2	103274465	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	91319127	103274465	139924908	8	4534											
RGPD3	653489	genome.wustl.edu	37	chr2	107069174	107069174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagggtctgtacaacacacGaattccactctaaacttgaa	6	10	2	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr2:107069174G>A	ENST00000409886.3	-	5	701	c.614C>T	c.(613-615)tCg>tTg	p.S205L	RGPD3_ENST00000304514.7_Missense_Mutation_p.S205L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	205					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACAACACACGAATTCCACTC	0.428																																																	0								ENSG00000153165						1	1	1					2																	107069174		105	218	323	RGPD3	SO:0001583	missense	0			-	HGNC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.614C>T	2.37:g.107069174G>A	ENSP00000386588:p.Ser205Leu	Somatic	0	27	0		0.659797275363318	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	B8ZZM4	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S205L	ENST00000409886.3	37	c.614	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	3.687	-0.064302	0.07273	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.32753	1.44;1.44	2.69	1.75	0.24633	.	.	.	.	.	T	0.30479	0.0766	M	0.66939	2.045	0.21105	N	0.999783	B	0.09022	0.002	B	0.04013	0.001	T	0.28202	-1.0051	9	0.56958	D	0.05	-2.8542	7.9075	0.29771	0.1378:0.0:0.8622:0.0	.	205	A6NKT7	RGPD3_HUMAN	L	205;205;148	ENSP00000386588:S205L;ENSP00000303659:S205L	ENSP00000303659:S205L	S	-	2	0	RGPD3	106435606	0.948000	0.32251	0.996000	0.52242	0.210000	0.24377	1.390000	0.34464	0.416000	0.25844	0.186000	0.17326	TCG	-	NULL		0.428	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	protein_coding	OTTHUMT00000329975.1	G	XM_929931	-		107069174	-1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	SNP	0.946	A	A	107069174	G	A	107069174	3	1	81	1	0	0	0	0	1	0	0	0	13295	1059	37	1	4738	1	RGPD3	2	107069174	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	3794709	107069174	136130199	9	4535											
SCTR	6344	genome.wustl.edu	37	chr2	120209612	120209612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaggatcacaggaccacGaatgatccaccagatggatg	13	9	1	3	rs144810736	byFrequency	TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr2:120209612G>A	ENST00000019103.5	-	9	1162	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	299					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)	ACAGGACCACGAATGATCCAC	0.592													G|||	2	0.000399361	0	0.0029	5008	,	,		21577	0		0	False		,,,				2504	0																0								ENSG00000080293	G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	146	104	118		895	5.3	1	2	dbSNP_134	118	33,8567	21.6+/-65.8	0,33,4267	yes	missense	SCTR	NM_002980.2	180	0,37,6466	AA,AG,GG		0.3837,0.0908,0.2845	probably-damaging	299/441	120209612	37,12969	2203	4300	6503	SCTR	SO:0001583	missense	0			-	HGNC		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.895C>T	2.37:g.120209612G>A	ENSP00000019103:p.Arg299Cys	Somatic	0	41	0		0.659797275363318	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	Q12961|Q13213|Q53T00	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1	p.R299C	ENST00000019103.5	37	c.895	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168832	0.78339	9.08E-4	0.003837	ENSG00000080293	ENST00000019103	T	0.36520	1.25	5.33	5.33	0.75918	GPCR, family 2-like (1);	0.000000	0.47852	D	0.000206	T	0.64472	0.2601	M	0.86502	2.82	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.69661	-0.5085	10	0.87932	D	0	.	13.6707	0.62422	0.0:0.0:0.8356:0.1644	.	299	P47872	SCTR_HUMAN	C	299	ENSP00000019103:R299C	ENSP00000019103:R299C	R	-	1	0	SCTR	119926082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.818000	0.55678	2.775000	0.95449	0.655000	0.94253	CGT	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.592	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	protein_coding	OTTHUMT00000254198.2	G		rs144810736		120209612	-1	no_errors	ENST00000019103	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120209612	G	A	120209612	3	1	81	1	0	0	0	0	1	0	0	0	13951	1058	37	1	447	1	SCTR	2	120209612	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	13140438	120209612	122989761	10	4536											
INPP5D	3635	genome.wustl.edu	37	chr2	234072418	234072418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggcagggaaagacgcggGacgactctgcggactacatc	16	10	1	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr2:234072418G>A	ENST00000359570.5	+	14	1270	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	INPP5D_ENST00000538935.1_Missense_Mutation_p.D423N|INPP5D_ENST00000455936.2_Missense_Mutation_p.D188N|INPP5D_ENST00000450745.1_Missense_Mutation_p.D188N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	436					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAAGACGCGGGACGACTCTGC	0.557																																					NSCLC(82;1215 1426 16163 20348 41018)												0								ENSG00000168918						147	153	151					2																	234072418		2055	4187	6242	INPP5D	SO:0001583	missense	0			-	HGNC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1270G>A	2.37:g.234072418G>A	ENSP00000352575:p.Asp424Asn	Somatic	0	59	0		0.659797275363318	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	70	16.67	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.D424N	ENST00000359570.5	37	c.1270		2	.	.	.	.	.	.	.	.	.	.	G	33	5.214614	0.95104	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.97232	-4.28;-4.22;-4.3;-4.3;-4.27;-4.27;-4.27	5.08	5.08	0.68730	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.102976	0.64402	D	0.000004	D	0.98005	0.9343	.	.	.	0.53688	D	0.999977	D;D	0.69078	0.997;0.987	P;P	0.62491	0.903;0.841	D	0.97752	1.0215	9	0.41790	T	0.15	.	18.6649	0.91486	0.0:0.0:1.0:0.0	.	435;436	Q92835-2;Q92835	.;SHIP1_HUMAN	N	424;423;188;188;57;57;57	ENSP00000352575:D424N;ENSP00000441010:D423N;ENSP00000407916:D188N;ENSP00000404610:D188N;ENSP00000400151:D57N;ENSP00000397421:D57N;ENSP00000405338:D57N	ENSP00000352575:D424N	D	+	1	0	INPP5D	233736490	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.203000	0.95033	2.652000	0.90054	0.655000	0.94253	GAC	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.557	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	protein_coding		G	NM_001017915	-		234072418	1	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	SNP	1.000	A	A	234072418	G	A	234072418	3	1	81	1	0	0	0	0	1	0	0	0	7758	1174	41	2	860	2	INPP5D	2	234072418	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	113862806	234072418	9126955	11	4537											
FGD5	152273	genome.wustl.edu	37	chr3	14960294	14960294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatggagaaagtgccctacGctctaaagattgagacttcc	10	9	1	4			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr3:14960294G>T	ENST00000285046.5	+	13	3633	c.3523G>T	c.(3523-3525)Gct>Tct	p.A1175S	FGD5_ENST00000543601.1_Missense_Mutation_p.A934S|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1175	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGTGCCCTACGCTCTAAAGAT	0.597																																																	0								ENSG00000154783						101	99	100					3																	14960294		2045	4193	6238	FGD5	SO:0001583	missense	0			-	HGNC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3523G>T	3.37:g.14960294G>T	ENSP00000285046:p.Ala1175Ser	Somatic	0	95	0		0.659797275363318	28	76.47	91	WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	35	69.30	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A1175S	ENST00000285046.5	37	c.3523	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380868	0.42207	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.74842	-0.88;-0.88	3.86	3.86	0.44501	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.280885	0.25025	N	0.033733	T	0.77246	0.4102	L	0.54323	1.7	0.24173	N	0.995611	B;B	0.32620	0.173;0.378	P;P	0.47827	0.558;0.558	T	0.67273	-0.5712	10	0.27082	T	0.32	-18.4664	12.6537	0.56776	0.0:0.0:1.0:0.0	.	934;1175	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	S	1175;934	ENSP00000285046:A1175S;ENSP00000445949:A934S	ENSP00000285046:A1175S	A	+	1	0	FGD5	14935298	0.569000	0.26643	0.319000	0.25293	0.646000	0.38490	3.278000	0.51662	1.988000	0.58038	0.591000	0.81541	GCT	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	protein_coding	OTTHUMT00000340628.1	G	NM_152536	-		14960294	1	no_errors	ENST00000285046	ensembl	human	known	74_37	missense	SNP	0.530	T	T	14960294	G	T	14960294	3	4	81	1	0	0	0	0	1	0	0	0	5838	1087	38	3	3573	3	FGD5	3	14960294	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		14960294	183062136	12	4538											
COL7A1	1294	genome.wustl.edu	37	chr3	48622990	48622990	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatggtctccacactcacCctctcgcccttggcagtggc	9	17	3	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr3:48622990C>T	ENST00000328333.8	-	31	4001	c.3894G>A	c.(3892-3894)agG>agA	p.R1298R	COL7A1_ENST00000454817.1_Splice_Site_p.R1298R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1298	Interrupted collagenous region.|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)		CCACACTCACCCTCTCGCCCT	0.572																																																	0								ENSG00000114270						59	69	66					3																	48622990		2203	4298	6501	COL7A1	SO:0001630	splice_region_variant	0			-	HGNC	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.3894+1G>A	3.37:g.48622990C>T		Somatic	0	57	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	70	15.48	Q14054|Q16507	Silent	SNP							pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1298	ENST00000328333.8	37	c.3894	CCDS2773.1	3																																																																																			-	pfam_Collagen		0.572	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	C	NM_000094	-	Silent	48622990	-1	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48622990	C	T	48622990	5	4	81	1	0	0	0	0	0	0	1	0	3706	637	22	2	5292	2	COL7A1	3	48622990	Splice_Site	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	33662696	48622990	149399440	13	4539											
ARAP2	116984	genome.wustl.edu	37	chr4	36212251	36212251	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcattcttctactgtTgagtattctgattcagaagc	8	7	4	4			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr4:36212251T>G	ENST00000303965.4	-	6	1737	c.1248A>C	c.(1246-1248)tcA>tcC	p.S416S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	416					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						CTTCTACTGTTGAGTATTCTG	0.363																																																	0								ENSG00000047365						115	122	120					4																	36212251		2203	4299	6502	ARAP2	SO:0001819	synonymous_variant	0			-	HGNC	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.1248A>C	4.37:g.36212251T>G		Somatic	0	69	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S416	ENST00000303965.4	37	c.1248	CCDS3441.1	4																																																																																			-	NULL		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	T	NM_015230	-		36212251	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	SNP	0.988	G	G	36212251	T	G	36212251	2	3	81	1	0	0	0	0	0	0	0	1	839	1799	63	5		5	ARAP2	4	36212251	Silent	SNP	T	TCGA-DX-A6Z0-01A-13D-A36J-09		36212251	154942025	14	4540											
SOX30	11063	genome.wustl.edu	37	chr5	157065660	157065660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcactggagacgctgggCtggaaaagtgtgacagggct	17	8	0	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr5:157065660C>A	ENST00000265007.6	-	4	1799	c.1458G>T	c.(1456-1458)caG>caT	p.Q486H	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.Q181H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	486					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACGCTGGGCTGGAAAAGTG	0.527																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0								ENSG00000039600						60	61	61					5																	157065660		2203	4300	6503	SOX30	SO:0001583	missense	0			-	HGNC	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1458G>T	5.37:g.157065660C>A	ENSP00000265007:p.Gln486His	Somatic	0	41	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	86	17.31	O94995|Q8IYX6	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q486H	ENST00000265007.6	37	c.1458	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404460	0.62288	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.97959	-4.36;-4.63	5.49	3.46	0.39613	.	0.111699	0.40728	N	0.001040	D	0.96244	0.8775	N	0.24115	0.695	0.26855	N	0.968072	D;D	0.65815	0.976;0.995	P;P	0.62885	0.556;0.908	D	0.91147	0.4950	10	0.34782	T	0.22	.	9.1802	0.37136	0.0:0.7288:0.0:0.2712	.	181;486	B4DXW7;O94993	.;SOX30_HUMAN	H	486;181	ENSP00000265007:Q486H;ENSP00000427984:Q181H	ENSP00000265007:Q486H	Q	-	3	2	SOX30	156998238	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.265000	0.33027	1.329000	0.45376	-0.142000	0.14014	CAG	-	NULL		0.527	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	protein_coding	OTTHUMT00000252571.2	C	NM_007017	-		157065660	-1	no_errors	ENST00000265007	ensembl	human	known	74_37	missense	SNP	0.997	A	A	157065660	C	A	157065660	3	1	81	1	0	0	0	0	1	0	0	0	14960	796	28	3	811	3	SOX30	5	157065660	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		157065660	23849600	15	4541											
EGFL8	80864	genome.wustl.edu	37	chr6	32134340	32134340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgagtcctacagccaacCagtgtacaagccctacctga	7	15	0	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr6:32134340C>T	ENST00000395512.1	+	3	272	c.167C>T	c.(166-168)cCa>cTa	p.P56L	AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Missense_Mutation_p.P56L|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	56	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TACAGCCAACCAGTGTACAAG	0.587																																																	0								ENSG00000241404						116	102	107					6																	32134340		1511	2709	4220	EGFL8	SO:0001583	missense	0			-	HGNC	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.167C>T	6.37:g.32134340C>T	ENSP00000378888:p.Pro56Leu	Somatic	0	55	0		0.659797275363318	20	31.03	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP							pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain	p.P56L	ENST00000395512.1	37	c.167	CCDS4743.1	6	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023256	0.93462	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	T;T;T	0.44482	0.92;0.92;0.92	5.93	5.93	0.95920	EMI domain (2);	.	.	.	.	T	0.58119	0.2100	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59506	-0.7442	9	0.66056	D	0.02	-9.0746	15.841	0.78845	0.0:1.0:0.0:0.0	.	56	Q99944	EGFL8_HUMAN	L	56	ENSP00000333380:P56L;ENSP00000378888:P56L;ENSP00000401694:P56L	ENSP00000333380:P56L	P	+	2	0	EGFL8	32242318	0.995000	0.38212	0.942000	0.38095	0.990000	0.78478	5.383000	0.66219	2.814000	0.96858	0.655000	0.94253	CCA	-	pfam_EMI_domain,pfscan_EMI_domain		0.587	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	protein_coding	OTTHUMT00000076463.3	C	NM_030652	-		32134340	1	no_errors	ENST00000333845	ensembl	human	known	74_37	missense	SNP	0.997	T	T	32134340	C	T	32134340	3	4	81	1	0	0	0	0	1	0	0	0	4967	594	21	2	173	2	EGFL8	6	32134340	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		32134340	138980727	16	4542											
TNFRSF21	27242	genome.wustl.edu	37	chr6	47200704	47200704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaggggtccaggcgtaCctgccgcaacactgtgtcct	12	14	1	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr6:47200704C>T	ENST00000296861.2	-	6	2158	c.1765G>A	c.(1765-1767)Gta>Ata	p.V589I		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	589					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TCCAGGCGTACCTGCCGCAAC	0.532																																																	0								ENSG00000146072						75	75	75					6																	47200704		2203	4300	6503	TNFRSF21	SO:0001583	missense	0			-	HGNC	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1765G>A	6.37:g.47200704C>T	ENSP00000296861:p.Val589Ile	Somatic	0	40	0		0.659797275363318	30	26.83	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	15	59.46	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP							pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.V589I	ENST00000296861.2	37	c.1765	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752436	0.89753	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.69435	-0.4	5.84	5.84	0.93424	.	0.112081	0.64402	D	0.000010	T	0.67335	0.2882	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.71679	-0.4520	10	0.87932	D	0	.	18.3151	0.90218	0.0:1.0:0.0:0.0	.	589	O75509	TNR21_HUMAN	I	589;278	ENSP00000296861:V589I	ENSP00000296861:V589I	V	-	1	0	TNFRSF21	47308663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.070000	0.71220	2.765000	0.95021	0.655000	0.94253	GTA	-	superfamily_DEATH-like_dom		0.532	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	protein_coding	OTTHUMT00000040814.1	C	NM_014452	-		47200704	-1	no_errors	ENST00000296861	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47200704	C	T	47200704	3	4	81	1	0	0	0	0	1	0	0	0	16302	507	18	2	206	2	TNFRSF21	6	47200704	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	15066364	47200704	123914363	17	4543											
ZNF12	7559	genome.wustl.edu	37	chr7	6732294	6732294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtttattttcctcttcCtggattctctctattaggtc	7	9	3	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr7:6732294C>T	ENST00000405858.1	-	5	820	c.279G>A	c.(277-279)caG>caA	p.Q93Q	ZNF12_ENST00000404360.1_Silent_p.Q57Q|ZNF12_ENST00000342651.5_Silent_p.Q93Q|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	93					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTCCTCTTCCTGGATTCTCT	0.348																																																	0								ENSG00000164631						124	124	124					7																	6732294		1821	4087	5908	ZNF12	SO:0001819	synonymous_variant	0			-	HGNC	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.279G>A	7.37:g.6732294C>T		Somatic	0	48	0		0.659797275363318	16	15.79	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	78	9.30	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q93	ENST00000405858.1	37	c.279	CCDS47538.1	7																																																																																			-	NULL		0.348	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	protein_coding	OTTHUMT00000324373.2	C	NM_016265	-		6732294	-1	no_errors	ENST00000405858	ensembl	human	known	74_37	silent	SNP	0.000	T	T	6732294	C	T	6732294	2	4	81	1	0	0	0	0	0	0	0	1	17725	680	24	2		2	ZNF12	7	6732294	Silent	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		6732294	152406369	18	4544											
THSD7A	221981	genome.wustl.edu	37	chr7	11633081	11633081	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaacctggcactctttggtGatcacacaggactggaaggt	12	9	2	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr7:11633081G>T	ENST00000423059.4	-	3	1322	c.1071C>A	c.(1069-1071)atC>atA	p.I357I		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	357					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCTTTGGTGATCACACAGG	0.488										HNSCC(18;0.044)																																							0								ENSG00000005108						114	112	113					7																	11633081		1946	4141	6087	THSD7A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1071C>A	7.37:g.11633081G>T		Somatic	0	23	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39		Silent	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.I357	ENST00000423059.4	37	c.1071	CCDS47543.1	7																																																																																			-	NULL		0.488	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2	-		11633081	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	SNP	0.422	T	T	11633081	G	T	11633081	2	4	81	1	0	0	0	0	0	0	0	1	15886	1280	45	3		3	THSD7A	7	11633081	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	4900787	11633081	147505582	19	4545											
PDE1C	5137	genome.wustl.edu	37	chr7	32109993	32109993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttcaatctccttggTtggcgactccatagctgcag	8	11	3	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr7:32109993T>C	ENST00000396191.1	-	1	468	c.13A>G	c.(13-15)Acc>Gcc	p.T5A	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Missense_Mutation_p.T5A|PDE1C_ENST00000396184.3_Missense_Mutation_p.T5A|PDE1C_ENST00000321453.7_Missense_Mutation_p.T5A	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	5					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ATCTCCTTGGTTGGCGACTCC	0.557																																																	0								ENSG00000154678						119	122	121					7																	32109993		2203	4300	6503	PDE1C	SO:0001583	missense	0			-	HGNC	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.13A>G	7.37:g.32109993T>C	ENSP00000379494:p.Thr5Ala	Somatic	0	63	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	110	26.17	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.T5A	ENST00000396191.1	37	c.13	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	T	9.163	1.019127	0.19355	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.71103	-0.54;-0.54;-0.51;-0.51	4.94	4.94	0.65067	.	.	.	.	.	T	0.42268	0.1195	N	0.01048	-1.04	0.34891	D	0.745576	B;B	0.19445	0.0;0.036	B;B	0.22152	0.002;0.038	T	0.50457	-0.8826	9	0.17832	T	0.49	.	14.7175	0.69280	0.0:0.0:0.0:1.0	.	5;5	Q14123-2;Q14123	.;PDE1C_HUMAN	A	5	ENSP00000379494:T5A;ENSP00000318105:T5A;ENSP00000379487:T5A;ENSP00000379485:T5A	ENSP00000318105:T5A	T	-	1	0	PDE1C	32076518	1.000000	0.71417	0.949000	0.38748	0.464000	0.32679	7.716000	0.84723	2.186000	0.69663	0.533000	0.62120	ACC	-	NULL		0.557	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	T		-		32109993	-1	no_errors	ENST00000321453	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32109993	T	C	32109993	3	2	81	1	0	0	0	0	1	0	0	0	11637	1725	60	5	1959	5	PDE1C	7	32109993	Missense_Mutation	SNP	T	TCGA-DX-A6Z0-01A-13D-A36J-09	20476912	32109993	127028670	20	4546											
RELN	5649	genome.wustl.edu	37	chr7	103183203	103183203	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgataaatccaggtctcGtgtcatcaacatgcgcaagc	9	10	3	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr7:103183203G>A	ENST00000428762.1	-	43	6805	c.6646C>T	c.(6646-6648)Cga>Tga	p.R2216*	RELN_ENST00000343529.5_Nonsense_Mutation_p.R2216*|RELN_ENST00000424685.2_Nonsense_Mutation_p.R2216*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2216					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)		TCCAGGTCTCGTGTCATCAAC	0.373																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						119	112	114					7																	103183203		2203	4300	6503	RELN	SO:0001587	stop_gained	0			-	HGNC		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.6646C>T	7.37:g.103183203G>A	ENSP00000392423:p.Arg2216*	Somatic	0	58	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP							pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.R2216*	ENST00000428762.1	37	c.6646	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.610394	0.99803	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	0.220988	0.39909	N	0.001236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	2216	.	ENSP00000345694:R2216X	R	-	1	2	RELN	102970439	0.808000	0.29022	1.000000	0.80357	0.969000	0.65631	2.586000	0.46119	2.814000	0.96858	0.591000	0.81541	CGA	-	superfamily_Sialidases		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	G	NM_005045	-		103183203	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	nonsense	SNP	0.991	A	A	103183203	G	A	103183203	4	1	81	1	0	0	0	0	0	1	0	0	13228	1153	40	1	3828	1	RELN	7	103183203	Nonsense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	71073210	103183203	55955460	21	4547											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174830	150174830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaggaaatgtcccaagccGaaaaactccttaaaaattta	5	10	0	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr7:150174830G>A	ENST00000307271.3	+	5	2534	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	654						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463																																																	0								ENSG00000171115						43	48	46					7																	150174830		2165	4288	6453	GIMAP8	SO:0001583	missense	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1960G>A	7.37:g.150174830G>A	ENSP00000305107:p.Glu654Lys	Somatic	0	131	0		0.659797275363318	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	124	39.61		Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.E654K	ENST00000307271.3	37	c.1960	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.568140	0.00133	.	.	ENSG00000171115	ENST00000307271	T	0.05319	3.46	3.5	-6.99	0.01605	AIG1 (1);	1.518970	0.04492	N	0.379769	T	0.01661	0.0053	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23691	-1.0181	10	0.17369	T	0.5	.	1.1102	0.01702	0.3935:0.0925:0.2347:0.2792	.	654	Q8ND71	GIMA8_HUMAN	K	654	ENSP00000305107:E654K	ENSP00000305107:E654K	E	+	1	0	GIMAP8	149805763	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.873000	0.01637	-5.955000	0.00008	-1.384000	0.01168	GAA	-	pfam_AIG1		0.463	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	G	NM_175571	-		150174830	1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	SNP	0.000	A	A	150174830	G	A	150174830	3	1	81	1	0	0	0	0	1	0	0	0	6387	1059	37	1	1974	1	GIMAP8	7	150174830	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	46991627	150174830	8963833	22	4548											
PGM5	5239	genome.wustl.edu	37	chr9	71080114	71080114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtgtggggaagagagCtttggcactggtaggctttg	16	5	1	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr9:71080114C>A	ENST00000396396.1	+	7	1378	c.1149C>A	c.(1147-1149)agC>agA	p.S383R	PGM5_ENST00000396392.1_Missense_Mutation_p.S383R	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	383	Substrate binding. {ECO:0000250|UniProtKB:P00949}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GGGAAGAGAGCTTTGGCACTG	0.478																																																	0								ENSG00000154330						210	190	197					9																	71080114		2203	4300	6503	PGM5	SO:0001583	missense	0			-	HGNC	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1149C>A	9.37:g.71080114C>A	ENSP00000379678:p.Ser383Arg	Somatic	0	50	0		0.659797275363318	31	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	37.29	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP							pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.S383R	ENST00000396396.1	37	c.1149	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795843	0.70452	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.68479	-0.33;-0.33	5.87	1.83	0.25207	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.88725	0.3232	10	0.87932	D	0	.	10.2516	0.43372	0.0:0.6944:0.0:0.3056	.	383	Q15124	PGM5_HUMAN	R	383	ENSP00000379678:S383R;ENSP00000379674:S383R	ENSP00000379674:S383R	S	+	3	2	PGM5	70269934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.201000	0.32259	0.438000	0.26450	0.655000	0.94253	AGC	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	protein_coding	OTTHUMT00000052548.2	C	NM_021965	-		71080114	1	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71080114	C	A	71080114	3	1	81	1	0	0	0	0	1	0	0	0	11803	796	28	3	1175	3	PGM5	9	71080114	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		71080114	70133317	23	4549											
PIP5K1B	8395	genome.wustl.edu	37	chr9	71437582	71437583	+	Frame_Shift_Ins	INS	-	-	A													acctggaaaacaaaatgaagINSaaaaaacctataaaaaggtg							TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr9:71437582_71437583insA	ENST00000265382.3	+	4	357_358	c.52_53insA	c.(52-54)gaafs	p.E18fs	PIP5K1B_ENST00000541509.1_Frame_Shift_Ins_p.E18fs|RP11-203L2.4_ENST00000442103.1_RNA	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	18					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ACAAAATGAAGAAAAAACCTAT	0.386																																																	0								ENSG00000107242																																			PIP5K1B	SO:0001589	frameshift_variant	0				HGNC	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.58dupA	9.37:g.71437588_71437588dupA	ENSP00000265382:p.Glu18fs	Somatic	0	56	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	51	34.62	A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Frame_Shift_Ins	INS							pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.T20fs	ENST00000265382.3	37	c.52_53	CCDS6624.1	9																																																																																			-	NULL		0.386	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP5K1B	protein_coding	OTTHUMT00000052561.2	-	NM_003558			71437583	1	no_errors	ENST00000478500	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	71437583	-	A	71437582	7	5	81	1	0	1	1	0	0	0	0	0	11942	943	33	0	54	0	PIP5K1B	9	71437582	Frame_Shift_Ins	INS	-	TCGA-DX-A6Z0-01A-13D-A36J-09	357468	71437582	69775849	24	4550											
ASTN2	23245	genome.wustl.edu	37	chr9	119204815	119204815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctccctcgtgtatccAcagcatacagagtgaacctg	9	13	0	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr9:119204815A>G	ENST00000313400.4	-	21	3615	c.3515T>C	c.(3514-3516)gTg>gCg	p.V1172A	ASTN2_ENST00000288520.5_Missense_Mutation_p.V273A|ASTN2_ENST00000341734.4_Missense_Mutation_p.V224A|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1121A|ASTN2_ENST00000361477.3_Missense_Mutation_p.V224A|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1168A			O75129	ASTN2_HUMAN	astrotactin 2	1172	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCGTGTATCCACAGCATACAG	0.537																																																	0								ENSG00000148219						152	126	135					9																	119204815		2203	4300	6503	ASTN2	SO:0001583	missense	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3515T>C	9.37:g.119204815A>G	ENSP00000314038:p.Val1172Ala	Somatic	0	47	0		0.659797275363318	23	4.17	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	82	10.87	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.V1172A	ENST00000313400.4	37	c.3515		9	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950882	0.73787	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.43	5.43	0.79202	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.64830	0.99;0.99;0.971;0.994;0.966;0.99;0.99	D;D;P;D;P;D;D	0.73380	0.971;0.971;0.761;0.97;0.872;0.971;0.98	T	0.63373	-0.6652	10	0.87932	D	0	-20.342	15.5086	0.75760	1.0:0.0:0.0:0.0	.	224;224;1121;1172;1168;224;273	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	A	1172;1168;273;224;895;1121;224	ENSP00000314038:V1172A;ENSP00000363108:V1168A;ENSP00000288520:V273A;ENSP00000339925:V224A;ENSP00000363098:V895A;ENSP00000354504:V1121A;ENSP00000355116:V224A	ENSP00000288520:V273A	V	-	2	0	ASTN2	118244636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.150000	0.94667	2.061000	0.61500	0.533000	0.62120	GTG	-	superfamily_Fibronectin_type3		0.537	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		A	NM_014010	-		119204815	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	SNP	1.000	G	G	119204815	A	G	119204815	3	3	81	1	0	0	0	0	1	0	0	0	1065	159	6	5	557	5	ASTN2	9	119204815	Missense_Mutation	SNP	A	TCGA-DX-A6Z0-01A-13D-A36J-09	47767233	119204815	22008616	25	4551											
PPYR1	5540	genome.wustl.edu	37	chr10	47087136	47087136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccctctgcaagatgtcggCcttcatccagtgcatgtcgg	11	13	2	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr10:47087136C>A	ENST00000395716.1	+	2	438	c.353C>A	c.(352-354)gCc>gAc	p.A118D	NPY4R_ENST00000374312.1_Missense_Mutation_p.A118D			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	118					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AAGATGTCGGCCTTCATCCAG	0.582																																																	0								ENSG00000204174						280	255	263					10																	47087136		2203	4300	6503	NPY4R	SO:0001583	missense	0			-	HGNC		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.353C>A	10.37:g.47087136C>A	ENSP00000379066:p.Ala118Asp	Somatic	0	41	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.A118D	ENST00000395716.1	37	c.353	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	9.317	1.057162	0.19907	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38077	1.16;1.16	5.0	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.245466	0.42053	D	0.000779	T	0.35278	0.0926	M	0.81682	2.555	0.30801	N	0.73983	P	0.34699	0.464	B	0.32928	0.155	T	0.44711	-0.9310	10	0.54805	T	0.06	.	4.8391	0.13481	0.1697:0.65:0.0:0.1803	.	118	P50391	NPY4R_HUMAN	D	118	ENSP00000363431:A118D;ENSP00000379066:A118D	ENSP00000363431:A118D	A	+	2	0	PPYR1	46507142	1.000000	0.71417	0.064000	0.19789	0.030000	0.12068	5.635000	0.67841	0.643000	0.30638	-0.136000	0.14681	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	protein_coding	OTTHUMT00000047837.1	C		-		47087136	1	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	SNP	0.979	A	A	47087136	C	A	47087136	3	1	81	1	0	0	0	0	1	0	0	0	12421	739	26	3	355	3	PPYR1	10	47087136	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		47087136	88447611	26	4552											
TDRD1	56165	genome.wustl.edu	37	chr10	115962849	115962849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgactgtccacttggaGttactaaggaaatagccatt	10	7	0	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr10:115962849G>A	ENST00000369280.1	+	7	1175	c.715G>A	c.(715-717)Gtt>Att	p.V239I	TDRD1_ENST00000369281.2_Missense_Mutation_p.V239I|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.V239I|TDRD1_ENST00000251864.2_Missense_Mutation_p.V239I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	239					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACTTGGAGTTACTAAGGA	0.373																																																	0								ENSG00000095627						95	90	92					10																	115962849		2203	4300	6503	TDRD1	SO:0001583	missense	0			-	HGNC	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.715G>A	10.37:g.115962849G>A	ENSP00000358286:p.Val239Ile	Somatic	0	66	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	62	39.22	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP							pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.V239I	ENST00000369280.1	37	c.715		10	.	.	.	.	.	.	.	.	.	.	G	4.196	0.035101	0.08148	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.19532	3.02;3.01;2.14;3.03	5.96	-1.25	0.09405	.	1.045250	0.07480	N	0.903690	T	0.14527	0.0351	L	0.44542	1.39	0.22127	N	0.999347	B;B;B;B	0.14012	0.005;0.005;0.009;0.004	B;B;B;B	0.18561	0.01;0.01;0.022;0.011	T	0.39396	-0.9616	10	0.13853	T	0.58	-1.4698	4.4234	0.11492	0.3932:0.3101:0.2967:0.0	.	239;239;239;239	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	I	239	ENSP00000358288:V239I;ENSP00000251864:V239I;ENSP00000358287:V239I;ENSP00000358286:V239I	ENSP00000251864:V239I	V	+	1	0	TDRD1	115952839	0.877000	0.30153	0.153000	0.22517	0.429000	0.31625	0.018000	0.13422	-0.090000	0.12462	-0.225000	0.12378	GTT	-	NULL		0.373	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	protein_coding	OTTHUMT00000050457.2	G		-		115962849	1	no_errors	ENST00000251864	ensembl	human	known	74_37	missense	SNP	0.262	A	A	115962849	G	A	115962849	3	1	81	1	0	0	0	0	1	0	0	0	15737	1029	36	2	737	2	TDRD1	10	115962849	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	68875713	115962849	19571898	27	4553											
MRGPRX2	117194	genome.wustl.edu	37	chr11	19076965	19076965	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgtccatctctacaccaGactgcttctcgacatctccg	7	16	3	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr11:19076965G>T	ENST00000329773.2	-	2	1072	c.985C>A	c.(985-987)Ctg>Atg	p.L329M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	329					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTCTACACCAGACTGCTTCTC	0.532																																					GBM(198;1966 2199 4849 37227 49954)												0								ENSG00000183695						59	59	59					11																	19076965		2199	4293	6492	MRGPRX2	SO:0001583	missense	0			-	HGNC		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.985C>A	11.37:g.19076965G>T	ENSP00000333800:p.Leu329Met	Somatic	0	36	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L329M	ENST00000329773.2	37	c.985	CCDS7847.1	11	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154999	0.38021	.	.	ENSG00000183695	ENST00000329773	T	0.07021	3.23	4.03	-0.17	0.13335	.	3.755410	0.00866	N	0.001974	T	0.21881	0.0527	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	D	0.66716	0.946	T	0.10291	-1.0636	10	0.72032	D	0.01	.	1.8332	0.03134	0.1094:0.1996:0.3903:0.3007	.	329	Q96LB1	MRGX2_HUMAN	M	329	ENSP00000333800:L329M	ENSP00000333800:L329M	L	-	1	2	MRGPRX2	19033541	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.287000	0.08388	-0.015000	0.14150	0.655000	0.94253	CTG	-	NULL		0.532	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX2	protein_coding	OTTHUMT00000387819.1	G	NM_054030	-		19076965	-1	no_errors	ENST00000329773	ensembl	human	known	74_37	missense	SNP	0.000	T	T	19076965	G	T	19076965	3	4	81	1	0	0	0	0	1	0	0	0	9769	933	33	3	11	3	MRGPRX2	11	19076965	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		19076965	115929551	28	4554											
NELL1	4745	genome.wustl.edu	37	chr11	20939733	20939733	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttctattatcaaggggatCatccaagatgggaagatcat	9	7	5	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr11:20939733C>T	ENST00000357134.5	+	6	761	c.609C>T	c.(607-609)atC>atT	p.I203I	NELL1_ENST00000325319.5_Silent_p.I146I|NELL1_ENST00000298925.5_Silent_p.I231I|NELL1_ENST00000532434.1_Silent_p.I203I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	203	Laminin G-like.				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						TCAAGGGGATCATCCAAGATG	0.378																																																	0								ENSG00000165973						145	140	142					11																	20939733		2203	4299	6502	NELL1	SO:0001819	synonymous_variant	0			-	HGNC	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.609C>T	11.37:g.20939733C>T		Somatic	0	64	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.I203	ENST00000357134.5	37	c.609	CCDS7855.1	11																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.378	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	protein_coding	OTTHUMT00000387588.1	C	NM_006157	-		20939733	1	no_errors	ENST00000357134	ensembl	human	known	74_37	silent	SNP	0.991	T	T	20939733	C	T	20939733	2	4	81	1	0	0	0	0	0	0	0	1	10335	816	29	2		2	NELL1	11	20939733	Silent	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	1862768	20939733	114066783	29	4555											
SORL1	6653	genome.wustl.edu	37	chr11	121403173	121403173	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggatttttcctcttcagGcacttcctggacctcactac	6	14	3	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr11:121403173G>T	ENST00000260197.7	+	12	1726	c.1597G>T	c.(1597-1599)Gca>Tca	p.A533S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	533					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCCTCTTCAGGCACTTCCTGG	0.512																																																	0								ENSG00000137642						118	101	107					11																	121403173		2203	4299	6502	SORL1	SO:0001630	splice_region_variant	0			-	HGNC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1597-1G>T	11.37:g.121403173G>T		Somatic	0	37	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RNX7|Q92856	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A533S	ENST00000260197.7	37	c.1597	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423040	0.43020	.	.	ENSG00000137642	ENST00000260197	T	0.42513	0.97	5.03	4.11	0.48088	VPS10 (1);	0.275715	0.33127	N	0.005244	T	0.22704	0.0548	N	0.14661	0.345	0.80722	D	1	B	0.28667	0.219	B	0.22880	0.042	T	0.05517	-1.0880	9	.	.	.	.	10.2283	0.43238	0.0:0.1481:0.6982:0.1537	.	533	Q92673	SORL_HUMAN	S	533	ENSP00000260197:A533S	.	A	+	1	0	SORL1	120908383	1.000000	0.71417	0.976000	0.42696	0.930000	0.56654	6.101000	0.71479	1.088000	0.41272	0.655000	0.94253	GCA	-	smart_VPS10		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	protein_coding	OTTHUMT00000387626.2	G	NM_003105	-	Missense_Mutation	121403173	1	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121403173	G	T	121403173	5	4	81	1	0	0	0	0	0	0	1	0	14942	1217	42	3	1643	3	SORL1	11	121403173	Splice_Site	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	100463440	121403173	13603343	30	4556											
OR8D1	283159	genome.wustl.edu	37	chr11	124179847	124179847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagaacacagaggacacCttctcctggtccagggagtt	12	10	1	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr11:124179847C>A	ENST00000357821.2	-	1	886	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGAGGACACCTTCTCCTGGT	0.463																																																	0								ENSG00000196341						109	104	106					11																	124179847		2201	4299	6500	OR8D1	SO:0001583	missense	0			-	HGNC	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.816G>T	11.37:g.124179847C>A	ENSP00000350474:p.Lys272Asn	Somatic	0	79	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	46	34.29	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K272N	ENST00000357821.2	37	c.816	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	8.692	0.907606	0.17833	.	.	ENSG00000196341	ENST00000357821	T	0.00207	8.55	4.29	-2.53	0.06326	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001689	T	0.00496	0.0016	M	0.92077	3.27	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48456	-0.9034	10	0.59425	D	0.04	.	4.2567	0.10721	0.2431:0.3836:0.0:0.3732	.	272	Q8WZ84	OR8D1_HUMAN	N	272	ENSP00000350474:K272N	ENSP00000350474:K272N	K	-	3	2	OR8D1	123685057	0.000000	0.05858	0.266000	0.24541	0.005000	0.04900	-2.707000	0.00820	-0.105000	0.12132	-0.363000	0.07495	AAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	protein_coding	OTTHUMT00000387285.1	C	NM_001002917	-		124179847	-1	no_errors	ENST00000357821	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124179847	C	A	124179847	3	1	81	1	0	0	0	0	1	0	0	0	11233	680	24	3	113	3	OR8D1	11	124179847	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	2776674	124179847	10826669	31	4557											
ZNF740	283337	genome.wustl.edu	37	chr12	53580211	53580211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgatatatgtgatatgcGtttcatccagaagtaccacc	8	9	1	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr12:53580211G>A	ENST00000416904.3	+	6	855	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TGTGATATGCGTTTCATCCAG	0.502																																																	0								ENSG00000139651						77	79	78					12																	53580211		2036	4182	6218	ZNF740	SO:0001583	missense	0			-	HGNC	BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"Zinc fingers, C2H2-type"	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.410G>A	12.37:g.53580211G>A	ENSP00000409463:p.Arg137His	Somatic	0	53	0		0.659797275363318	25	19.35	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A8K9M9	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R137H	ENST00000416904.3	37	c.410	CCDS44896.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827887	0.90955	.	.	ENSG00000139651	ENST00000416904	T	0.19938	2.11	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108925	0.39083	N	0.001468	T	0.44726	0.1307	M	0.73430	2.235	0.49051	D	0.999746	D	0.89917	1.0	D	0.68353	0.957	T	0.33292	-0.9874	10	0.72032	D	0.01	-14.9527	12.4482	0.55664	0.0778:0.0:0.9222:0.0	.	137	Q8NDX6	ZN740_HUMAN	H	137	ENSP00000409463:R137H	ENSP00000409463:R137H	R	+	2	0	ZNF740	51866478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.419000	0.66435	2.894000	0.99253	0.655000	0.94253	CGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF740	protein_coding	OTTHUMT00000406890.2	G	NM_001004304	-		53580211	1	no_errors	ENST00000416904	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53580211	G	A	53580211	3	1	81	1	0	0	0	0	1	0	0	0	18135	1145	40	1	428	1	ZNF740	12	53580211	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		53580211	80271684	32	4558											
FSCB	84075	genome.wustl.edu	37	chr14	44976108	44976108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtattaccaatacgatggGtagctttggggctagatgat	12	5	0	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr14:44976108G>A	ENST00000340446.4	-	1	374	c.83C>T	c.(82-84)aCc>aTc	p.T28I	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	28						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AATACGATGGGTAGCTTTGGG	0.428																																																	0								ENSG00000189139						243	233	236					14																	44976108		2203	4300	6503	FSCB	SO:0001583	missense	0			-	HGNC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.83C>T	14.37:g.44976108G>A	ENSP00000344579:p.Thr28Ile	Somatic	0	67	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	91	22.22	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP							NULL	p.T28I	ENST00000340446.4	37	c.83	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382372	0.24944	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14893	2.47	5.49	1.57	0.23409	.	.	.	.	.	T	0.17959	0.0431	L	0.50333	1.59	0.09310	N	1	P	0.50528	0.936	P	0.46320	0.512	T	0.13361	-1.0512	9	0.72032	D	0.01	-1.5349	4.9021	0.13781	0.2514:0.0:0.5971:0.1515	.	28	Q5H9T9	FSCB_HUMAN	I	28	ENSP00000344579:T28I	ENSP00000344579:T28I	T	-	2	0	FSCB	44045858	0.008000	0.16893	0.029000	0.17559	0.172000	0.22775	0.560000	0.23500	0.379000	0.24794	0.555000	0.69702	ACC	-	NULL		0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	protein_coding	OTTHUMT00000276788.1	G	NM_032135	-		44976108	-1	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	SNP	0.003	A	A	44976108	G	A	44976108	3	1	81	1	0	0	0	0	1	0	0	0	6068	1261	44	2	2398	2	FSCB	14	44976108	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		44976108	62373432	33	4559											
IGDCC3	9543	genome.wustl.edu	37	chr15	65621813	65621813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatccacacgtttctcgtctCggcccagctggccccgctgt	9	17	2	0	rs371434447		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr15:65621813C>T	ENST00000327987.4	-	13	2371	c.2120G>A	c.(2119-2121)cGa>cAa	p.R707Q	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	707					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTCGTCTCGGCCCAGCTG	0.662																																																	0								ENSG00000174498	C	GLN/ARG	1,4395		0,1,2197	49	58	55		2120	3.3	0.5	15		55	0,8584		0,0,4292	no	missense	IGDCC3	NM_004884.3	43	0,1,6489	TT,TC,CC		0.0,0.0227,0.0077	benign	707/815	65621813	1,12979	2198	4292	6490	IGDCC3	SO:0001583	missense	0			-	HGNC	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2120G>A	15.37:g.65621813C>T	ENSP00000332773:p.Arg707Gln	Somatic	0	70	0		0.659797275363318	13	23.53	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	108	20.00	O95215	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R707Q	ENST00000327987.4	37	c.2120	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	6.655	0.489291	0.12641	2.27E-4	0.0	ENSG00000174498	ENST00000327987	T	0.65549	-0.16	5.29	3.35	0.38373	.	0.946368	0.08825	N	0.888237	T	0.41811	0.1175	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28933	-1.0028	10	0.18710	T	0.47	-0.0428	3.631	0.08131	0.3147:0.4664:0.1365:0.0825	.	707	Q8IVU1	IGDC3_HUMAN	Q	707	ENSP00000332773:R707Q	ENSP00000332773:R707Q	R	-	2	0	IGDCC3	63408866	0.000000	0.05858	0.480000	0.27341	0.003000	0.03518	0.716000	0.25836	0.572000	0.29383	0.655000	0.94253	CGA	-	NULL		0.662	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	protein_coding	OTTHUMT00000256826.1	C	NM_004884	-		65621813	-1	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	SNP	0.003	T	T	65621813	C	T	65621813	3	4	81	1	0	0	0	0	1	0	0	0	7570	884	31	1	332	1	IGDCC3	15	65621813	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		65621813	36909579	34	4560											
GPR114	221188	genome.wustl.edu	37	chr16	57609003	57609003	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcttaaactcgctctaCggtagggctggagggcggcc	13	12	2	0	rs370635864		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr16:57609003C>T	ENST00000340339.4	+	11	2008	c.1485C>T	c.(1483-1485)taC>taT	p.Y495Y	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Splice_Site_p.Y495Y	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	495					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)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACTCGCTCTACGGTAGGGCTG	0.597													C|||	1	0.000199681	0	0	5008	,	,		18969	0		0	False		,,,				2504	0.001																0								ENSG00000159618	C		0,4396		0,0,2198	68	60	63		1485	-3.3	1	16		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	GPR114	NM_153837.1		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		495/529	57609003	1,12995	2198	4300	6498	GPR114	SO:0001630	splice_region_variant	0			-	HGNC	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1486+1C>T	16.37:g.57609003C>T		Somatic	0	40	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.Y495	ENST00000340339.4	37	c.1485	CCDS10785.1	16																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.597	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	protein_coding	OTTHUMT00000257336.3	C	NM_153837	-	Silent	57609003	1	no_errors	ENST00000340339	ensembl	human	known	74_37	silent	SNP	0.931	T	T	57609003	C	T	57609003	5	4	81	1	0	0	0	0	0	0	1	0	6633	550	19	1	1523	1	GPR114	16	57609003	Splice_Site	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09		57609003	32745750	35	4561											
TP53	7157	genome.wustl.edu	37	chr17	7577074	7577075	+	Frame_Shift_Ins	INS	-	-	TTCTC													gctcccctttcttgcggagaINSttctcttcctctgtgcgccg							TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr17:7577074_7577075insTTCTC	ENST00000269305.4	-	8	1052_1053	c.863_864insGAGAA	c.(862-864)aatfs	p.N288fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N288fs	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	288	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N288fs*13(17)|p.0?(8)|p.N288S(6)|p.E286fs*17(2)|p.?(2)|p.N288fs*18(2)|p.R283fs*16(2)|p.N288fs*17(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.N288K(1)|p.E285fs*13(1)|p.N288fs*57(1)|p.E287fs*17(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)	TCTTGCGGAGATTCTCTTCCTC	0.569		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Deletion - Frameshift(27)|Whole gene deletion(8)|Substitution - Missense(7)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	upper_aerodigestive_tract(22)|breast(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|liver(3)|large_intestine(2)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|biliary_tract(1)|lung(1)|oesophagus(1)|prostate(1)						ENSG00000141510																																			TP53	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;		HGNC	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.859_863dupGAGAA	17.37:g.7577075_7577079dupTTCTC	ENSP00000269305:p.Asn288fs	Somatic					0.659797275363318	40	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N288fs	ENST00000269305.4	37	c.864_863	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd		0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546			7577075	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	INS	0.990:0.994	TTCTC	TTCTC	7577075	-	TTCTC	7577074	7	5	81	1	0	1	1	0	0	0	0	0	16388	330	12	0	422	0	TP53	17	7577074	Frame_Shift_Ins	INS	-	TCGA-DX-A6Z0-01A-13D-A36J-09		7577074	73618136	36	4562											
HDAC5	10014	genome.wustl.edu	37	chr17	42158226	42158226	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattgtagaacgcctgctGggtgccattgccatggtgaa	13	9	1	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr17:42158226G>C	ENST00000393622.2	-	21	2963	c.2632C>G	c.(2632-2634)Cag>Gag	p.Q878E	HDAC5_ENST00000586802.1_Missense_Mutation_p.Q878E|HDAC5_ENST00000225983.6_Missense_Mutation_p.Q879E|HDAC5_ENST00000336057.5_Missense_Mutation_p.Q793E	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	878	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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 kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AACGCCTGCTGGGTGCCATTG	0.542																																																	0								ENSG00000108840						138	116	124					17																	42158226		2203	4300	6503	HDAC5	SO:0001583	missense	0			-	HGNC	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2632C>G	17.37:g.42158226G>C	ENSP00000377244:p.Gln878Glu	Somatic	0	65	0		0.659797275363318	173	13	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP							pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.Q879E	ENST00000393622.2	37	c.2635	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778695	0.90195	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69806	-0.43;-0.43;-0.43	4.63	4.63	0.57726	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	T	0.77850	0.4192	M	0.66297	2.02	0.80722	D	1	P;P;D	0.54964	0.472;0.933;0.969	B;P;P	0.59889	0.115;0.664;0.865	T	0.80663	-0.1282	10	0.66056	D	0.02	-15.3658	16.4039	0.83651	0.0:0.0:1.0:0.0	.	793;879;878	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	E	879;878;793	ENSP00000225983:Q879E;ENSP00000377244:Q878E;ENSP00000337290:Q793E	ENSP00000225983:Q879E	Q	-	1	0	HDAC5	39513752	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.630000	0.98420	2.411000	0.81874	0.563000	0.77884	CAG	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse		0.542	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	protein_coding	OTTHUMT00000457686.1	G	NM_001015053	-		42158226	-1	no_errors	ENST00000225983	ensembl	human	known	74_37	missense	SNP	1.000	C	C	42158226	G	C	42158226	3	2	81	1	0	0	0	0	1	0	0	0	7012	1357	47	4	764	4	HDAC5	17	42158226	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	34581152	42158226	39036984	37	4563											
EVI5L	115704	genome.wustl.edu	37	chr19	7916385	7916385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacatccatgtatgcctcGtcctggttcctcacactgtt	6	15	1	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:7916385G>A	ENST00000270530.4	+	7	1015	c.819G>A	c.(817-819)tcG>tcA	p.S273S	EVI5L_ENST00000538904.2_Silent_p.S273S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	273	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TGTATGCCTCGTCCTGGTTCC	0.607																																																	0								ENSG00000142459						348	234	273					19																	7916385		2203	4300	6503	EVI5L	SO:0001819	synonymous_variant	0			-	HGNC	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.819G>A	19.37:g.7916385G>A		Somatic	0	58	0		0.659797275363318	45	45.78	38	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	101	29.37	B9A6I9	Silent	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S273	ENST00000270530.4	37	c.819	CCDS12188.1	19																																																																																			-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.607	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	protein_coding	OTTHUMT00000461347.1	G	NM_145245	-		7916385	1	no_errors	ENST00000538904	ensembl	human	known	74_37	silent	SNP	0.046	A	A	7916385	G	A	7916385	2	1	81	1	0	0	0	0	0	0	0	1	5292	1132	40	1		1	EVI5L	19	7916385	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		7916385	51212598	38	4564											
FBN3	84467	genome.wustl.edu	37	chr19	8197971	8197971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgacgcacatggtgctGgtggcacactcgttgtggtc	14	11	0	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:8197971G>A	ENST00000600128.1	-	14	2025	c.1611C>T	c.(1609-1611)acC>acT	p.T537T	FBN3_ENST00000601739.1_Silent_p.T537T|FBN3_ENST00000270509.2_Silent_p.T537T			Q75N90	FBN3_HUMAN	fibrillin 3	537	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACATGGTGCTGGTGGCACACT	0.642																																																	0								ENSG00000142449						53	34	40					19																	8197971		2201	4298	6499	FBN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1611C>T	19.37:g.8197971G>A		Somatic	0	74	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	76	54.76	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.T537	ENST00000600128.1	37	c.1611	CCDS12196.1	19																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447	-		8197971	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	SNP	1.000	A	A	8197971	G	A	8197971	2	1	81	1	0	0	0	0	0	0	0	1	5706	1335	47	2		2	FBN3	19	8197971	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	281586	8197971	50931012	39	4565											
ANGPTL4	51129	genome.wustl.edu	37	chr19	8430863	8430863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaaggctcagaacagcaGgatccagcaactcttccaca	7	14	3	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:8430863G>A	ENST00000301455.2	+	2	515	c.344G>A	c.(343-345)aGg>aAg	p.R115K	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.R115K|ANGPTL4_ENST00000541807.1_5'UTR	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	115					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGAACAGCAGGATCCAGCAA	0.552																																																	0								ENSG00000167772						76	70	72					19																	8430863		2203	4300	6503	ANGPTL4	SO:0001583	missense	0			-	HGNC	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.344G>A	19.37:g.8430863G>A	ENSP00000301455:p.Arg115Lys	Somatic	0	49	0		0.659797275363318	7	58.82	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	54	43.30	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.R115K	ENST00000301455.2	37	c.344	CCDS12200.1	19	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816887	0.50633	.	.	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.42513	0.97;0.97	4.81	2.61	0.31194	.	2.329500	0.01348	N	0.011810	T	0.27900	0.0687	N	0.12746	0.255	0.80722	D	1	B;B	0.27594	0.182;0.182	B;B	0.27380	0.079;0.079	T	0.07635	-1.0762	10	0.28530	T	0.3	.	6.0619	0.19842	0.2577:0.0:0.7423:0.0	.	115;115	A8MY84;Q9BY76	.;ANGL4_HUMAN	K	115	ENSP00000301455:R115K;ENSP00000377534:R115K	ENSP00000301455:R115K	R	+	2	0	ANGPTL4	8336863	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.835000	0.48175	0.362000	0.24319	0.655000	0.94253	AGG	-	NULL		0.552	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL4	protein_coding	OTTHUMT00000460322.1	G	NM_139314	-		8430863	1	no_errors	ENST00000301455	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8430863	G	A	8430863	3	1	81	1	0	0	0	0	1	0	0	0	616	1000	35	2	350	2	ANGPTL4	19	8430863	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	232892	8430863	50698120	40	4566											
EPOR	2057	genome.wustl.edu	37	chr19	11489388	11489388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagttacccttgtgggtGgtgaagaggccttcaaactc	13	8	1	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:11489388G>A	ENST00000222139.6	-	7	998	c.894C>T	c.(892-894)acC>acT	p.T298T	EPOR_ENST00000592375.2_Silent_p.T298T	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	298					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCTTGTGGGTGGTGAAGAGGC	0.537																																																	0								ENSG00000187266						109	100	103					19																	11489388		2203	4300	6503	EPOR	SO:0001819	synonymous_variant	0			-	HGNC	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.894C>T	19.37:g.11489388G>A		Somatic	0	52	0		0.659797275363318	25	30.56	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	85	20.56	B2RCG4|Q15443|Q2M205	Silent	SNP							pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T298	ENST00000222139.6	37	c.894	CCDS12260.1	19																																																																																			-	pirsf_Erythropoietin_rcpt		0.537	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	protein_coding	OTTHUMT00000458791.1	G		-		11489388	-1	no_errors	ENST00000222139	ensembl	human	known	74_37	silent	SNP	1.000	A	A	11489388	G	A	11489388	2	1	81	1	0	0	0	0	0	0	0	1	5191	1335	47	2		2	EPOR	19	11489388	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	3058525	11489388	47639595	41	4567											
NOTCH3	4854	genome.wustl.edu	37	chr19	15276214	15276214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgacatcagcatggctgGcgatgagctcttccaccatg	10	12	2	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:15276214G>T	ENST00000263388.2	-	31	5855	c.5780C>A	c.(5779-5781)gCc>gAc	p.A1927D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1927					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCATGGCTGGCGATGAGCTC	0.582																																																	0								ENSG00000074181						92	78	82					19																	15276214		2203	4300	6503	NOTCH3	SO:0001583	missense	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5780C>A	19.37:g.15276214G>T	ENSP00000263388:p.Ala1927Asp	Somatic	0	26	0		0.659797275363318	84	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1927D	ENST00000263388.2	37	c.5780	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743813	0.69418	.	.	ENSG00000074181	ENST00000263388	T	0.62498	0.02	5.14	5.14	0.70334	Ankyrin repeat-containing domain (4);	0.000000	0.32190	N	0.006458	T	0.57359	0.2048	N	0.17082	0.46	0.43029	D	0.99459	P	0.51933	0.949	P	0.50537	0.643	T	0.61272	-0.7096	10	0.46703	T	0.11	.	17.5455	0.87860	0.0:0.0:1.0:0.0	.	1927	Q9UM47	NOTC3_HUMAN	D	1927	ENSP00000263388:A1927D	ENSP00000263388:A1927D	A	-	2	0	NOTCH3	15137214	0.993000	0.37304	1.000000	0.80357	0.479000	0.33129	2.647000	0.46639	2.676000	0.91093	0.561000	0.74099	GCC	-	pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	G	NM_000435	-		15276214	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15276214	G	T	15276214	3	4	81	1	0	0	0	0	1	0	0	0	10552	1203	42	3	1197	3	NOTCH3	19	15276214	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	3786826	15276214	43852769	42	4568											
PTGIR	5739	genome.wustl.edu	37	chr19	47124905	47124905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgctgctgtcaggggCgacagcctgggtgaagcagc	15	12	2	1	rs200508770		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:47124905C>T	ENST00000291294.2	-	3	926	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	PTGIR_ENST00000598865.1_Missense_Mutation_p.A53T|PTGIR_ENST00000594275.1_Missense_Mutation_p.A22T|PTGIR_ENST00000597185.1_5'UTR	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	265					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CTGTCAGGGGCGACAGCCTGG	0.642																																																	0								ENSG00000160013						36	32	33					19																	47124905		2159	4229	6388	PTGIR	SO:0001583	missense	0			-	HGNC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.793G>A	19.37:g.47124905C>T	ENSP00000291294:p.Ala265Thr	Somatic	0	59	0		0.659797275363318	133	7.64	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	93	12.15		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt	p.A265T	ENST00000291294.2	37	c.793	CCDS12686.1	19	.	.	.	.	.	.	.	.	.	.	C	6.984	0.551608	0.13374	.	.	ENSG00000160013	ENST00000291294	T	0.72167	-0.63	4.39	-0.764	0.11027	GPCR, rhodopsin-like superfamily (1);	0.739442	0.12672	N	0.448680	T	0.41743	0.1172	N	0.12182	0.205	0.09310	N	1	B	0.16166	0.016	B	0.20184	0.028	T	0.22521	-1.0214	10	0.09590	T	0.72	-16.2589	2.6653	0.05046	0.349:0.3006:0.0:0.3504	.	265	P43119	PI2R_HUMAN	T	265	ENSP00000291294:A265T	ENSP00000291294:A265T	A	-	1	0	PTGIR	51816745	0.020000	0.18652	0.980000	0.43619	0.336000	0.28762	-0.688000	0.05150	0.066000	0.16515	-0.367000	0.07326	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt		0.642	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIR	protein_coding	OTTHUMT00000466581.1	C		rs200508770		47124905	-1	no_errors	ENST00000291294	ensembl	human	known	74_37	missense	SNP	0.008	T	T	47124905	C	T	47124905	3	4	81	1	0	0	0	0	1	0	0	0	12757	768	27	1	371	1	PTGIR	19	47124905	Missense_Mutation	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	31848691	47124905	12004078	43	4569											
PRPF31	26121	genome.wustl.edu	37	chr19	54625279	54625279	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcctgaataccgcgtcatCgtggatgccaacaacctgac	10	14	1	2			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr19:54625279C>T	ENST00000321030.4	+	4	628	c.279C>T	c.(277-279)atC>atT	p.I93I	PRPF31_ENST00000391755.1_Silent_p.I93I|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.I93I	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	93					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCGCGTCATCGTGGATGCCA	0.627																																																	0								ENSG00000105618						96	65	75					19																	54625279		2203	4300	6503	PRPF31	SO:0001819	synonymous_variant	0			-	HGNC	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.279C>T	19.37:g.54625279C>T		Somatic	0	29	0		0.659797275363318	288	29.93	123	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP							pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC	p.I93	ENST00000321030.4	37	c.279	CCDS12879.1	19																																																																																			-	pfam_NOSIC,smart_NOSIC		0.627	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF31	protein_coding	OTTHUMT00000141417.2	C		-		54625279	1	no_errors	ENST00000321030	ensembl	human	known	74_37	silent	SNP	0.904	T	T	54625279	C	T	54625279	2	4	81	1	0	0	0	0	0	0	0	1	12571	874	31	1		1	PRPF31	19	54625279	Silent	SNP	C	TCGA-DX-A6Z0-01A-13D-A36J-09	7500374	54625279	4503704	44	4570											
PLK1S1	101929591	genome.wustl.edu	37	chr20	21142511	21142511	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctcttttggtgttgcaGgttgcagtgcacgaggggat	14	7	1	0			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr20:21142511G>A	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TGGTGTTGCAGGTTGCAGTGC	0.408																																																	0								ENSG00000088970						59	53	55					20																	21142511		1895	4105	6000	PLK1S1			0			-	HGNC																													20.37:g.21142511G>A		Somatic	0	79	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	77	12.50		Splice_Site	SNP							-	NULL	ENST00000591761.1	37	c.NULL		20																																																																																			-	-		0.408	RP4-777D9.2-002	KNOWN	basic	antisense	PLK1S1	antisense	OTTHUMT00000078258.2	G		-		21142511	1	no_errors	ENST00000246027	ensembl	human	known	74_37	splice_site	SNP	0.991	A	A	21142511	G	A	21142511	1	1	81	0	1	0	0	0	0	0	0	0	12097	1014	35	2		2	PLK1S1	20	21142511	RNA	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		21142511	41883009	45	4571											
SLC12A5	57468	genome.wustl.edu	37	chr20	44669254	44669254	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacccacccaacttcccGtgagtgctgctgctctgagc	9	16	1	2	rs142641765		TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr20:44669254G>A	ENST00000454036.2	+	7	972		c.e7+1		SLC12A5_ENST00000243964.3_Splice_Site|SLC12A5_ENST00000372315.1_Silent_p.P285P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5						cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAACTTCCCGTGAGTGCTGC	0.567																																																	0								ENSG00000124140	G	,	0,4406		0,0,2203	183	151	162		,	5	1	20	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5	SLC12A5	NM_001134771.1,NM_020708.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	44669254	1,13005	2203	4300	6503	SLC12A5	SO:0001630	splice_region_variant	0			-	HGNC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.923+1G>A	20.37:g.44669254G>A		Somatic	0	20	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	38	30.91	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP							-	e7+1	ENST00000454036.2	37	c.923+1	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693747	0.88735	0.0	1.16E-4	ENSG00000124140	ENST00000454036;ENST00000243964	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3986	0.87453	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A5	44102661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.572000	0.86782	0.655000	0.94253	.	-	-		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	G		rs142641765	Intron	44669254	1	no_errors	ENST00000454036	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	44669254	G	A	44669254	5	1	81	1	0	0	0	0	0	0	1	0	14394	1159	40	1	1006	1	SLC12A5	20	44669254	Splice_Site	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	23526743	44669254	18356266	46	4572											
CDH26	60437	genome.wustl.edu	37	chr20	58587783	58587784	+	Intron	INS	-	-	A													agagtcaggtgttccttcctINSaaaaaaaaaagtctattttg					rs370682137	byFrequency	TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr20:58587783_58587784insA	ENST00000244047.5	+	15	2483				CDH26_ENST00000350849.6_Stop_Codon_Ins|CDH26_ENST00000348616.4_Stop_Codon_Ins|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Stop_Codon_Ins			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.*833fs?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTTCCTTCCTAAAAAAAAAAG	0.396													|||unknown(HR)	163	0.0325479	0.1082	0.0115	5008	,	,		18084	0.003		0.004	False		,,,				2504	0.0051																1	Deletion - Frameshift(1)	ovary(1)						ENSG00000124215																																			CDH26	SO:0001627	intron_variant	0				HGNC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5941->A	20.37:g.58587793_58587793dupA		Somatic	0	59	0		0.659797275363318	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Frame_Shift_Ins	INS							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.*834fs	ENST00000244047.5	37	c.2497_2498		20																																																																																			-	NULL		0.396	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		-	NM_177980			58587784	1	no_errors	ENST00000348616	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	A	A	58587784	-	A	58587783	6	5	81	0	1	1	1	0	0	0	0	0	3112	1535	53	0		0	CDH26	20	58587783	Intron	INS	-	TCGA-DX-A6Z0-01A-13D-A36J-09	13918529	58587783	4437737	47	4573											
DSCAM	1826	genome.wustl.edu	37	chr21	41496170	41496170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtactttcggatgatgccGttcagcttgagagggggaag	16	6	1	2	rs201137339	byFrequency	TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GGATGATGCCGTTCAGCTTGA	0.572													G|||	4	0.000798722	0.003	0	5008	,	,		17417	0		0	False		,,,				2504	0				Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587	G		11,4069		0,11,2029	155	164	161		3648	-3.6	1	21		161	0,8370		0,0,4185	no	coding-synonymous	DSCAM	NM_001389.3		0,11,6214	AA,AG,GG		0.0,0.2696,0.0884		1216/2013	41496170	11,12439	2040	4185	6225	DSCAM	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.3648C>T	21.37:g.41496170G>A		Somatic	0	98	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	85	23.21	O60468	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N1216	ENST00000400454.1	37	c.3648	CCDS42929.1	21																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	rs201137339		41496170	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	0.975	A	A	41496170	G	A	41496170	2	1	81	1	0	0	0	0	0	0	0	1	4770	1136	40	1		1	DSCAM	21	41496170	Silent	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		41496170	6633725	48	4574											
ZNF645	158506	genome.wustl.edu	37	chrX	22291373	22291373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaatttatatgacaaagtcGgatataaagtatgtccgcgc	8	7	0	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chrX:22291373G>A	ENST00000323684.1	+	1	309	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	89					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGACAAAGTCGGATATAAAGT	0.403																																																	0								ENSG00000175809						73	64	67					X																	22291373		2203	4300	6503	ZNF645	SO:0001583	missense	0			-	HGNC	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.265G>A	X.37:g.22291373G>A	ENSP00000323348:p.Gly89Arg	Somatic	0	68	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	83	13.40	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP							pfscan_Znf_RING,pfscan_Znf_C2H2	p.G89R	ENST00000323684.1	37	c.265	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267674	0.40095	.	.	ENSG00000175809	ENST00000323684	T	0.33216	1.42	3.49	0.633	0.17712	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.406566	0.23834	U	0.044116	T	0.19604	0.0471	L	0.46157	1.445	0.09310	N	1	D	0.54772	0.968	B	0.39617	0.305	T	0.17077	-1.0381	10	0.45353	T	0.12	.	4.096	0.09991	0.2276:0.0:0.5869:0.1855	.	89	Q8N7E2	ZN645_HUMAN	R	89	ENSP00000323348:G89R	ENSP00000323348:G89R	G	+	1	0	ZNF645	22201294	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.136000	0.15974	0.017000	0.15025	0.436000	0.28706	GGA	-	pfscan_Znf_RING		0.403	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	protein_coding	OTTHUMT00000056037.1	G	NM_152577	-		22291373	1	no_errors	ENST00000323684	ensembl	human	known	74_37	missense	SNP	0.002	A	A	22291373	G	A	22291373	3	1	81	1	0	0	0	0	1	0	0	0	18068	1117	39	1	267	1	ZNF645	23	22291373	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09		22291373	132979187	49	4575											
P2RY4	5030	genome.wustl.edu	37	chrX	69479428	69479428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcactgctgccaggacctGggctgaggcctagggatctc	13	14	2	1			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chrX:69479428G>T	ENST00000374519.2	-	1	226	c.47C>A	c.(46-48)cCa>cAa	p.P16Q		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	16					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCCAGGACCTGGGCTGAGGCC	0.582													g|||	1	0.000264901	0	0	3775	,	,		15531	0.001		0	False		,,,				2504	0																0								ENSG00000186912						27	24	25					X																	69479428		2203	4299	6502	P2RY4	SO:0001583	missense	0			-	HGNC	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.47C>A	X.37:g.69479428G>T	ENSP00000363643:p.Pro16Gln	Somatic	0	70	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	124	8.82	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt	p.P16Q	ENST00000374519.2	37	c.47	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	g	7.879	0.729757	0.15507	.	.	ENSG00000186912	ENST00000374519	T	0.71579	-0.58	3.71	2.81	0.32909	.	1.715750	0.03496	U	0.217294	T	0.53626	0.1808	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.44982	-0.9292	10	0.51188	T	0.08	.	7.8855	0.29648	0.1005:0.0:0.7405:0.1591	.	16	P51582	P2RY4_HUMAN	Q	16	ENSP00000363643:P16Q	ENSP00000363643:P16Q	P	-	2	0	P2RY4	69396153	0.003000	0.15002	0.001000	0.08648	0.039000	0.13416	0.672000	0.25187	0.237000	0.21200	-1.355000	0.01225	CCA	-	prints_P2Y4_rcpt		0.582	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	protein_coding	OTTHUMT00000057058.2	G	NM_002565	-		69479428	-1	no_errors	ENST00000374519	ensembl	human	known	74_37	missense	SNP	0.001	T	T	69479428	G	T	69479428	3	4	81	1	0	0	0	0	1	0	0	0	11355	1348	47	3	1054	3	P2RY4	23	69479428	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	47188055	69479428	85791132	50	4576											
PASD1	139135	genome.wustl.edu	37	chrX	150840783	150840783	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggagaagaagaagctgcaGgagcagaaaatgcaggagaa	15	5	0	5			TCGA-DX-A6Z0-01A-13D-A36J-09	TCGA-DX-A6Z0-10B-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a2fa11-0adf-4577-9f91-f6b4f9f2e6b8	784eea3d-4146-483c-baf7-ceb206185ee1	g.chrX:150840783G>C	ENST00000370357.4	+	14	1811	c.1566G>C	c.(1564-1566)caG>caC	p.Q522H		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	522	Lys-rich.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					agaagctgcaggagcagaaaa	0.547																																																	0								ENSG00000166049						39	40	40					X																	150840783		2161	4213	6374	PASD1	SO:0001583	missense	0			-	HGNC	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1566G>C	X.37:g.150840783G>C	ENSP00000359382:p.Gln522His	Somatic	0	48	0		0.659797275363318	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP							superfamily_PAS,smart_PAS,pfscan_PAS	p.Q522H	ENST00000370357.4	37	c.1566	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	5.936	0.356749	0.11239	.	.	ENSG00000166049	ENST00000370357	T	0.68624	-0.34	1.01	1.01	0.19927	.	.	.	.	.	T	0.59252	0.2180	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.69824	0.966	T	0.47328	-0.9126	9	0.52906	T	0.07	.	4.9567	0.14044	0.0:0.0:1.0:0.0	.	522	Q8IV76	PASD1_HUMAN	H	522	ENSP00000359382:Q522H	ENSP00000359382:Q522H	Q	+	3	2	PASD1	150591439	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.176000	0.16782	0.759000	0.33084	0.284000	0.19432	CAG	-	NULL		0.547	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	protein_coding	OTTHUMT00000060879.2	G	NM_173493	-		150840783	1	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	SNP	0.004	C	C	150840783	G	C	150840783	3	2	81	1	0	0	0	0	1	0	0	0	11473	991	35	4	1616	4	PASD1	23	150840783	Missense_Mutation	SNP	G	TCGA-DX-A6Z0-01A-13D-A36J-09	81361355	150840783	4429777	51	4577											
PLA2G5	5322	genome.wustl.edu	37	chr1	20416375	20416375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacagattcgcgtggggCgtggtcacctgcggtaaggc	15	9	1	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:20416375C>T	ENST00000375108.3	+	4	547	c.279C>T	c.(277-279)ggC>ggT	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|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)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000127472						95	78	84					1																	20416375		2203	4300	6503	PLA2G5	SO:0001819	synonymous_variant	0			-	HGNC	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.279C>T	1.37:g.20416375C>T		Somatic	0	35	0		0.74661848012032	70	2.78	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57	Q8N435	Silent	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.G93	ENST00000375108.3	37	c.279	CCDS202.1	1																																																																																			-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2		0.582	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G5	protein_coding	OTTHUMT00000007668.1	C	NM_000929	-		20416375	1	no_errors	ENST00000375108	ensembl	human	known	74_37	silent	SNP	0.390	T	T	20416375	C	T	20416375	2	4	82	1	0	0	0	0	0	0	0	1	12009	755	27	1		1	PLA2G5	1	20416375	Silent	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		20416375	228834246	1	4578											
ALPL	249	genome.wustl.edu	37	chr1	21890674	21890674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggctgtaaggacatcGcctaccagctcatgcataac	10	13	1	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:21890674G>A	ENST00000374840.3	+	6	863	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	ALPL_ENST00000540617.1_Missense_Mutation_p.A150T|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000539907.1_Missense_Mutation_p.A128T|ALPL_ENST00000425315.2_Missense_Mutation_p.A205T|ALPL_ENST00000374832.1_Missense_Mutation_p.A205T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	205					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	TAAGGACATCGCCTACCAGCT	0.667																																																	0								ENSG00000162551						82	74	76					1																	21890674		2203	4300	6503	ALPL	SO:0001583	missense	0			-	HGNC	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.613G>A	1.37:g.21890674G>A	ENSP00000363973:p.Ala205Thr	Somatic	0	66	0		0.74661848012032	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	69	23.91	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP							pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.A205T	ENST00000374840.3	37	c.613	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.688892	0.96784	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.39	5.39	0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.85630	2.765	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.987	P;D;P	0.66716	0.681;0.946;0.539	D	0.98948	1.0793	10	0.72032	D	0.01	-28.8682	17.7009	0.88294	0.0:0.0:1.0:0.0	.	128;153;205	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	T	128;150;205;205;205	ENSP00000437674:A128T;ENSP00000442672:A150T;ENSP00000363973:A205T;ENSP00000363965:A205T;ENSP00000394765:A205T	ENSP00000363965:A205T	A	+	1	0	ALPL	21763261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.503000	0.81632	2.521000	0.84997	0.561000	0.74099	GCC	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.667	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	protein_coding	OTTHUMT00000008202.1	G	NM_000478	-		21890674	1	no_errors	ENST00000374832	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21890674	G	A	21890674	3	1	82	1	0	0	0	0	1	0	0	0	547	1087	38	1	631	1	ALPL	1	21890674	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	1474299	21890674	227359947	2	4579											
CLIC4	25932	genome.wustl.edu	37	chr1	25167316	25167316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaagaaatgactggcaTctggagatacctaactaatg	8	8	1	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:25167316T>C	ENST00000374379.4	+	6	847	c.650T>C	c.(649-651)aTc>aCc	p.I217T		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	217	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		ATGACTGGCATCTGGAGATAC	0.388																																																	0								ENSG00000169504						126	120	122					1																	25167316		2203	4300	6503	CLIC4	SO:0001583	missense	0			-	HGNC	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.650T>C	1.37:g.25167316T>C	ENSP00000363500:p.Ile217Thr	Somatic	0	24	0		0.74661848012032	722	50.24	731	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	Q9UFW9|Q9UQJ6	Missense_Mutation	SNP							superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.I217T	ENST00000374379.4	37	c.650	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537519	0.65085	.	.	ENSG00000169504	ENST00000374379	D	0.94723	-3.5	5.86	5.86	0.93980	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.120421	0.64402	D	0.000004	D	0.94238	0.8150	M	0.80847	2.515	0.41164	D	0.986116	P;P	0.41159	0.615;0.74	B;B	0.37731	0.257;0.19	D	0.94746	0.7923	10	0.62326	D	0.03	-18.8529	16.2605	0.82541	0.0:0.0:0.0:1.0	.	197;217	B3KTR3;Q9Y696	.;CLIC4_HUMAN	T	217	ENSP00000363500:I217T	ENSP00000363500:I217T	I	+	2	0	CLIC4	25039903	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.040000	0.89188	2.237000	0.73441	0.460000	0.39030	ATC	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel		0.388	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	protein_coding	OTTHUMT00000009332.1	T	NM_013943	-		25167316	1	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	SNP	1.000	C	C	25167316	T	C	25167316	3	2	82	1	0	0	0	0	1	0	0	0	3530	1435	50	5	672	5	CLIC4	1	25167316	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	3276642	25167316	224083305	3	4580											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52704639	52704639	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcaagtcagaatgctactCaaatatttatgaacagagag	8	6	2	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:52704639C>T	ENST00000371591.1	+	3	1681	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S517L|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S517L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	517					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAATGCTACTCAAATATTTAT	0.363																																																	0								ENSG00000157077						48	50	49					1																	52704639		2203	4299	6502	ZFYVE9	SO:0001583	missense	0			-	HGNC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1550C>T	1.37:g.52704639C>T	ENSP00000360647:p.Ser517Leu	Somatic	0	26	0		0.74661848012032	15	37.5	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP							pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.S517L	ENST00000371591.1	37	c.1550	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878298	0.33162	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.56275	0.97;0.47;0.97;0.97	5.69	2.18	0.27775	.	0.410660	0.19877	N	0.104056	T	0.46151	0.1378	N	0.19112	0.55	0.23076	N	0.998334	P;B;D	0.56521	0.617;0.278;0.976	B;B;P	0.55785	0.242;0.057;0.784	T	0.21965	-1.0230	10	0.54805	T	0.06	.	7.7608	0.28951	0.0:0.5884:0.2361:0.1755	.	517;517;517	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	L	517	ENSP00000349737:S517L;ENSP00000355358:S517L;ENSP00000287727:S517L;ENSP00000360647:S517L	ENSP00000287727:S517L	S	+	2	0	ZFYVE9	52477227	0.978000	0.34361	1.000000	0.80357	0.997000	0.91878	1.007000	0.29860	1.411000	0.46957	0.655000	0.94253	TCA	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	C	NM_007324	-		52704639	1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	SNP	0.979	T	T	52704639	C	T	52704639	3	4	82	1	0	0	0	0	1	0	0	0	17678	838	29	2	1556	2	ZFYVE9	1	52704639	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	27537323	52704639	196545982	4	4581											
CEP350	9857	genome.wustl.edu	37	chr1	180062224	180062233	+	Frame_Shift_Del	DEL	GTTGAAAGAG	GTTGAAAGAG	-													ctccataaaagtgaggaaatGttgaaagagagacagtcaga							TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	GTTGAAAGAG	GTTGAAAGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:180062224_180062233delGTTGAAAGAG	ENST00000367607.3	+	34	7402_7411	c.6984_6993delGTTGAAAGAG	c.(6982-6993)atgttgaaagagfs	p.MLKE2328fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2328					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTGAGGAAATGTTGAAAGAGAGACAGTCAG	0.338																																																	0								ENSG00000135837																																			CEP350	SO:0001589	frameshift_variant	0				HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6984_6993delGTTGAAAGAG	1.37:g.180062224_180062233delGTTGAAAGAG	ENSP00000356579:p.Met2328fs	Somatic					0.74661848012032	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.M2328fs	ENST00000367607.3	37	c.6984_6993	CCDS1336.1	1																																																																																			-	NULL		0.338	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	GTTGAAAGAG	NM_014810			180062233	1	no_errors	ENST00000367607	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.001:0.004:0.066:0.121:0.165:0.206:0.221:0.109	-	-	180062233	GTTGAAAGAG	-	180062224	7	5	82	1	0	1	0	1	0	0	0	0	3256	1377	48	0	7114	0	CEP350	1	180062224	Frame_Shift_Del	DEL	GTTGAAAGAG	TCGA-DX-A6Z2-01A-12D-A36J-09	127357585	180062224	69188397	5	4582											
KCTD3	51133	genome.wustl.edu	37	chr1	215749265	215749265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttattgatagagatccaGcagcatttgcacccatttta	6	8	0	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:215749265G>T	ENST00000259154.4	+	4	499	c.205G>T	c.(205-207)Gca>Tca	p.A69S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TAGAGATCCAGCAGCATTTGC	0.264																																																	0								ENSG00000136636						37	39	38					1																	215749265		2177	4269	6446	KCTD3	SO:0001583	missense	0			-	HGNC	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.205G>T	1.37:g.215749265G>T	ENSP00000259154:p.Ala69Ser	Somatic	0	43	0		0.74661848012032	31	36	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	62	35.42	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP							pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.A69S	ENST00000259154.4	37	c.205	CCDS1515.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.456145|2.456145	0.43634|0.43634	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366945|ENST00000448333	T|.	0.75821|.	-0.97|.	5.6|5.6	4.69|4.69	0.59074|0.59074	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);|.	0.150335|.	0.64402|.	N|.	0.000015|.	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.13043|0.13043	0.29|0.29	0.36352|0.36352	D|D	0.860125|0.860125	B;B|.	0.13145|.	0.007;0.004|.	B;B|.	0.12156|.	0.005;0.007|.	T|T	0.38950|0.38950	-0.9637|-0.9637	10|5	0.38643|.	T|.	0.18|.	-25.4176|-25.4176	9.9319|9.9319	0.41528|0.41528	0.1523:0.0:0.8477:0.0|0.1523:0.0:0.8477:0.0	.|.	69;69|.	Q9Y597-2;Q9Y597|.	.;KCTD3_HUMAN|.	S|I	69|41	ENSP00000259154:A69S|.	ENSP00000259154:A69S|.	A|S	+|+	1|2	0|0	KCTD3|KCTD3	213815888|213815888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.657000|3.657000	0.54474|0.54474	2.655000|2.655000	0.90218|0.90218	0.650000|0.650000	0.86243|0.86243	GCA|AGC	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.264	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	protein_coding	OTTHUMT00000089871.2	G	NM_016121	-		215749265	1	no_errors	ENST00000259154	ensembl	human	known	74_37	missense	SNP	1.000	T	T	215749265	G	T	215749265	3	4	82	1	0	0	0	0	1	0	0	0	8112	971	34	3	219	3	KCTD3	1	215749265	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	35687041	215749265	33501356	6	4583											
MTR	4548	genome.wustl.edu	37	chr1	237044109	237044109	+	Frame_Shift_Del	DEL	C	C	-													agtgcacctgtaatccatgtCctggacgcgtccaagagtgt							TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr1:237044109delC	ENST00000366577.5	+	25	3043	c.2649delC	c.(2647-2649)gtcfs	p.V883fs	MTR_ENST00000535889.1_Frame_Shift_Del_p.V832fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	883	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TAATCCATGTCCTGGACGCGT	0.428																																																	0								ENSG00000116984						175	171	173					1																	237044109		2203	4300	6503	MTR	SO:0001589	frameshift_variant	0				HGNC	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2649delC	1.37:g.237044109delC	ENSP00000355536:p.Val883fs	Somatic	0	34	0		0.74661848012032	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL							pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.L884fs	ENST00000366577.5	37	c.2649	CCDS1614.1	1																																																																																			-	superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH		0.428	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	protein_coding	OTTHUMT00000096632.2	C	NM_000254			237044109	1	no_errors	ENST00000366577	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	237044109	C	-	237044109	7	5	82	1	0	1	0	1	0	0	0	0	9960	842	30	0	2747	0	MTR	1	237044109	Frame_Shift_Del	DEL	C	TCGA-DX-A6Z2-01A-12D-A36J-09	21294844	237044109	12206512	7	4584											
THADA	63892	genome.wustl.edu	37	chr2	43520007	43520007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgattttccttcatgGccaacaataagaacttctct	7	10	2	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:43520007G>A	ENST00000405006.4	-	32	5135	c.4784C>T	c.(4783-4785)gCc>gTc	p.A1595V	THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.A1276V|THADA_ENST00000405975.2_Missense_Mutation_p.A1595V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1595										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCCTTCATGGCCAACAATAA	0.498																																																	0								ENSG00000115970						52	51	52					2																	43520007		1974	4152	6126	THADA	SO:0001583	missense	0			-	HGNC	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4784C>T	2.37:g.43520007G>A	ENSP00000385995:p.Ala1595Val	Somatic	0	34	0		0.74661848012032	35	33.96	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	59	36.56	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP							pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.A1595V	ENST00000405006.4	37	c.4784	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.82|13.82	2.349789|2.349789	0.41599|0.41599	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.76|5.76	3.98|3.98	0.46160|0.46160	.|.	0.413822|.	0.25792|.	N|.	0.028273|.	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.19112|0.19112	0.55|0.55	0.30133|0.30133	N|N	0.804653|0.804653	P;B|.	0.36027|.	0.533;0.004|.	B;B|.	0.37833|.	0.259;0.006|.	T|T	0.23619|0.23619	-1.0183|-1.0183	10|5	0.16420|.	T|.	0.52|.	.|.	9.9259|9.9259	0.41492|0.41492	0.1587:0.0:0.8413:0.0|0.1587:0.0:0.8413:0.0	.|.	1522;1595|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	V|S	1595;1522;1276;1595|835	ENSP00000386088:A1595V;ENSP00000416048:A1276V;ENSP00000385995:A1595V|.	ENSP00000349464:A1522V|.	A|P	-|-	2|1	0|0	THADA|THADA	43373511|43373511	0.991000|0.991000	0.36638|0.36638	0.515000|0.515000	0.27774|0.27774	0.799000|0.799000	0.45148|0.45148	2.289000|2.289000	0.43523|0.43523	0.803000|0.803000	0.34113|0.34113	0.650000|0.650000	0.86243|0.86243	GCC|CCA	-	superfamily_ARM-type_fold		0.498	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	protein_coding	OTTHUMT00000326070.3	G	NM_022065	-		43520007	-1	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	SNP	0.802	A	A	43520007	G	A	43520007	3	1	82	1	0	0	0	0	1	0	0	0	15847	1203	42	2	1105	2	THADA	2	43520007	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		43520007	199679366	8	4585											
PIGF	5281	genome.wustl.edu	37	chr2	46842277	46842277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaaagatgggtatacagTagtctcttgatatcgttatc	8	6	1	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:46842277T>C	ENST00000281382.6	-	2	197	c.27A>G	c.(25-27)ctA>ctG	p.L9L	PIGF_ENST00000306465.4_Silent_p.L9L|PIGF_ENST00000495933.1_5'UTR|CRIPT_ENST00000238892.3_5'Flank	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	9					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGGTATACAGTAGTCTCTTGA	0.338																																																	0								ENSG00000151665						153	156	155					2																	46842277		2203	4300	6503	PIGF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"Phosphatidylinositol glycan anchor biosynthesis"	8962	protein-coding gene	gene with protein product		600153	"phosphatidylinositol glycan, class F"			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.27A>G	2.37:g.46842277T>C		Somatic	0	47	0		0.74661848012032	17	34.62	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	51	40.70	Q8WW20	Silent	SNP							pfam_GPI_biosynthesis_protein_Pig-F	p.L9	ENST00000281382.6	37	c.27	CCDS1827.1	2																																																																																			-	NULL		0.338	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGF	protein_coding	OTTHUMT00000250749.2	T	NM_173074	-		46842277	-1	no_errors	ENST00000281382	ensembl	human	known	74_37	silent	SNP	0.236	C	C	46842277	T	C	46842277	2	2	82	1	0	0	0	0	0	0	0	1	11889	1625	57	5		5	PIGF	2	46842277	Silent	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	3322270	46842277	196357096	9	4586											
NRXN1	9378	genome.wustl.edu	37	chr2	50850699	50850699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaatggggttttgagacAagtcgtagcagaagtattca	12	4	1	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:50850699A>C	ENST00000406316.2	-	6	2363	c.887T>G	c.(886-888)tTg>tGg	p.L296W	NRXN1_ENST00000405472.3_Missense_Mutation_p.L296W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.L296W|NRXN1_ENST00000402717.3_Missense_Mutation_p.L296W|NRXN1_ENST00000404971.1_Missense_Mutation_p.L329W|NRXN1_ENST00000406859.3_Missense_Mutation_p.L296W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	296	Laminin G-like 2. {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)			GTTTTGAGACAAGTCGTAGCA	0.378																																																	0								ENSG00000179915						131	121	124					2																	50850699		1872	4095	5967	NRXN1	SO:0001583	missense	0			-	HGNC	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.887T>G	2.37:g.50850699A>C	ENSP00000384311:p.Leu296Trp	Somatic	0	41	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L296W	ENST00000406316.2	37	c.887	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038970	0.75617	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.32;-1.47;-1.32;-1.47	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.89733	0.6800	M	0.81497	2.545	0.46260	D	0.998953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90626	0.4563	10	0.56958	D	0.05	.	15.4704	0.75437	1.0:0.0:0.0:0.0	.	329;296	Q9ULB1-3;F8WB18	.;.	W	329;296;296;296;330;296;296	ENSP00000385142:L329W;ENSP00000384311:L296W;ENSP00000434015:L296W;ENSP00000385017:L296W;ENSP00000385434:L296W;ENSP00000385681:L296W	ENSP00000385017:L296W	L	-	2	0	NRXN1	50704203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.240000	0.73641	0.528000	0.53228	TTG	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	A		-		50850699	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50850699	A	C	50850699	3	2	82	1	0	0	0	0	1	0	0	0	10667	131	5	5	3992	5	NRXN1	2	50850699	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09	4008422	50850699	192348674	10	4587											
PKP4	8502	genome.wustl.edu	37	chr2	159533343	159533343	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacctatgcagtattacaatAgccaaggggatgccacacat	8	11	0	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:159533343A>T	ENST00000389759.3	+	20	3332	c.3220A>T	c.(3220-3222)Agc>Tgc	p.S1074C	PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1074					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTATTACAATAGCCAAGGGGA	0.532										HNSCC(62;0.18)																																							0								ENSG00000144283						113	104	107					2																	159533343		2203	4300	6503	PKP4	SO:0001583	missense	0			-	HGNC	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3220A>T	2.37:g.159533343A>T	ENSP00000374409:p.Ser1074Cys	Somatic	0	62	0		0.74661848012032	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	91	38.51	Q86W91	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1074C	ENST00000389759.3	37	c.3220	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541094	0.65085	.	.	ENSG00000144283	ENST00000389759	T	0.75050	-0.9	6.17	6.17	0.99709	.	0.239148	0.50627	D	0.000107	T	0.66528	0.2798	N	0.22421	0.69	0.41020	D	0.985078	P;P	0.39624	0.681;0.681	B;B	0.39971	0.221;0.315	T	0.70978	-0.4725	10	0.62326	D	0.03	-15.7282	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1029;1074	Q4W5T8;Q99569	.;PKP4_HUMAN	C	1074	ENSP00000374409:S1074C	ENSP00000374409:S1074C	S	+	1	0	PKP4	159241589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.650000	0.74368	2.371000	0.80710	0.533000	0.62120	AGC	-	NULL		0.532	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	protein_coding	OTTHUMT00000333250.1	A		-		159533343	1	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	SNP	1.000	T	T	159533343	A	T	159533343	3	4	82	1	0	0	0	0	1	0	0	0	11989	420	15	5	3294	5	PKP4	2	159533343	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09	108682644	159533343	83666030	11	4588											
ABCB11	8647	genome.wustl.edu	37	chr2	169826677	169826677	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagctaccctttgtttctGgccaccactcatctggcctc	7	15	3	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:169826677G>A	ENST00000263817.6	-	15	1811	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	563	ABC transporter 1. {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)			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)	CTTTGTTTCTGGCCACCACTC	0.498																																																	0								ENSG00000073734						119	117	117					2																	169826677		1991	4199	6190	ABCB11	SO:0001587	stop_gained	0			-	HGNC	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.1687C>T	2.37:g.169826677G>A	ENSP00000263817:p.Gln563*	Somatic	0	39	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	Q53TL2|Q9UNB2	Nonsense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q563*	ENST00000263817.6	37	c.1687	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.339420	0.98767	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9291	0.92558	0.0:0.0:1.0:0.0	.	.	.	.	X	563	.	ENSP00000263817:Q563X	Q	-	1	0	ABCB11	169534923	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.869000	0.99810	2.461000	0.83175	0.655000	0.94253	CAG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.498	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	protein_coding	OTTHUMT00000333616.2	G	NM_003742	-		169826677	-1	no_errors	ENST00000263817	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	169826677	G	A	169826677	4	1	82	1	0	0	0	0	0	1	0	0	42	1357	47	2	2334	2	ABCB11	2	169826677	Nonsense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	10293334	169826677	73372696	12	4589											
SSFA2	6744	genome.wustl.edu	37	chr2	182786788	182786788	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatctgttttttcccaAgcaacatcagaatcatcttc	4	11	5	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:182786788A>G	ENST00000431877.2	+	16	3503	c.3324A>G	c.(3322-3324)caA>caG	p.Q1108Q	SSFA2_ENST00000409136.1_Silent_p.Q617Q|SSFA2_ENST00000428267.2_Silent_p.Q933Q|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Silent_p.Q1086Q|SSFA2_ENST00000320370.7_Silent_p.Q1108Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1108				QAT -> KQR (in Ref. 8; AAB00773). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTTTTCCCAAGCAACATCAG	0.458																																																	0								ENSG00000138434						95	98	97					2																	182786788		2203	4300	6503	SSFA2	SO:0001819	synonymous_variant	0			-	HGNC	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3324A>G	2.37:g.182786788A>G		Somatic	0	34	0		0.74661848012032	45	28.57	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	62	28.74	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP							NULL	p.Q1108	ENST00000431877.2	37	c.3324	CCDS46467.1	2																																																																																			-	NULL		0.458	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	protein_coding	OTTHUMT00000255793.2	A	NM_006751	-		182786788	1	no_errors	ENST00000431877	ensembl	human	known	74_37	silent	SNP	0.772	G	G	182786788	A	G	182786788	2	3	82	1	0	0	0	0	0	0	0	1	15190	69	3	5		5	SSFA2	2	182786788	Silent	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09	12960111	182786788	60412585	13	4590											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447647	226447647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtggctcccggtcccGgacacccacgagcccgctgg	14	19	0	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr2:226447647G>A	ENST00000272907.6	+	4	1927	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	505					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCCCGGTCCCGGACACCCACG	0.697																																																	0								ENSG00000144460						14	18	17					2																	226447647		1910	4114	6024	NYAP2	SO:0001583	missense	0			-	HGNC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1514G>A	2.37:g.226447647G>A	ENSP00000272907:p.Arg505Gln	Somatic	0	36	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	A2RRN4|Q96NL2	Missense_Mutation	SNP							NULL	p.R505Q	ENST00000272907.6	37	c.1514	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812455	0.32053	.	.	ENSG00000144460	ENST00000272907	T	0.36520	1.25	5.63	5.63	0.86233	.	0.114876	0.56097	D	0.000028	T	0.55386	0.1917	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.982;0.993	T	0.47156	-0.9139	10	0.38643	T	0.18	-21.3187	19.7096	0.96089	0.0:0.0:1.0:0.0	.	19;505	Q9P242-3;Q9P242	.;K1486_HUMAN	Q	505	ENSP00000272907:R505Q	ENSP00000272907:R505Q	R	+	2	0	KIAA1486	226155891	1.000000	0.71417	0.066000	0.19879	0.011000	0.07611	6.127000	0.71642	2.652000	0.90054	0.655000	0.94253	CGG	-	NULL		0.697	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	protein_coding	OTTHUMT00000331258.1	G	NM_020864	-		226447647	1	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	SNP	0.991	A	A	226447647	G	A	226447647	3	1	82	1	0	0	0	0	1	0	0	0	8239	1116	39	1	1524	1	KIAA1486	2	226447647	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	43660859	226447647	16751726	14	4591											
ULK4	54986	genome.wustl.edu	37	chr3	41723042	41723042	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagagccagaagattgctgtCagaatcaacactggccttct	10	10	3	4			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr3:41723042C>A	ENST00000301831.4	-	29	3397	c.2935G>T	c.(2935-2937)Gac>Tac	p.D979Y		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	979					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGATTGCTGTCAGAATCAACA	0.478																																																	0								ENSG00000168038						126	123	124					3																	41723042		1989	4154	6143	ULK4	SO:0001583	missense	0			-	HGNC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2935G>T	3.37:g.41723042C>A	ENSP00000301831:p.Asp979Tyr	Somatic	0	36	0		0.74661848012032	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	48	25.00	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D979Y	ENST00000301831.4	37	c.2935	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	c	14.10	2.433556	0.43224	.	.	ENSG00000168038	ENST00000301831	T	0.65364	-0.15	5.75	4.77	0.60923	Armadillo-type fold (1);	0.523011	0.16862	U	0.196497	T	0.41949	0.1181	L	0.29908	0.895	0.80722	D	1	P	0.43701	0.815	B	0.34722	0.188	T	0.48234	-0.9053	10	0.72032	D	0.01	.	3.7858	0.08700	0.0:0.6679:0.0:0.3321	.	979	Q96C45	ULK4_HUMAN	Y	979	ENSP00000301831:D979Y	ENSP00000301831:D979Y	D	-	1	0	ULK4	41698046	1.000000	0.71417	0.605000	0.28930	0.741000	0.42261	2.896000	0.48656	2.716000	0.92895	0.655000	0.94253	GAC	-	superfamily_ARM-type_fold		0.478	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	protein_coding	OTTHUMT00000343490.1	C	XM_929989	-		41723042	-1	no_errors	ENST00000301831	ensembl	human	known	74_37	missense	SNP	0.997	A	A	41723042	C	A	41723042	3	1	82	1	0	0	0	0	1	0	0	0	16985	826	29	3	928	3	ULK4	3	41723042	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		41723042	156299388	15	4592											
PTPRG	5793	genome.wustl.edu	37	chr3	62248555	62248555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcacaaaaacagatacaTcaacattttagcatgtgagt	6	8	1	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr3:62248555T>G	ENST00000474889.1	+	17	3019	c.2642T>G	c.(2641-2643)aTc>aGc	p.I881S	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.I852S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000469148.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	881	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)			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)		AACAGATACATCAACATTTTA	0.393																																																	0								ENSG00000144724						140	126	131					3																	62248555		2203	4300	6503	PTPRG	SO:0001583	missense	0			-	HGNC	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.2642T>G	3.37:g.62248555T>G	ENSP00000418112:p.Ile881Ser	Somatic	0	32	0		0.74661848012032	19	52.5	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.I881S	ENST00000474889.1	37	c.2642	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189360	0.57909	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.81996	-1.56;-1.56	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	N	0.05592	-0.015	0.80722	D	1	D;B;B	0.54964	0.969;0.149;0.424	P;B;B	0.55222	0.771;0.204;0.235	D	0.84467	0.0597	10	0.87932	D	0	.	16.2962	0.82776	0.0:0.0:0.0:1.0	.	127;852;881	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	881;852	ENSP00000418112:I881S;ENSP00000295874:I852S	ENSP00000295874:I852S	I	+	2	0	PTPRG	62223595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.304000	0.77564	0.528000	0.53228	ATC	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	T	NM_002841	-		62248555	1	no_errors	ENST00000474889	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62248555	T	G	62248555	3	3	82	1	0	0	0	0	1	0	0	0	12810	1435	50	5	2708	5	PTPRG	3	62248555	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	20525513	62248555	135773875	16	4593											
MED12L	116931	genome.wustl.edu	37	chr3	150877791	150877791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccagccctggcccccCcggccctggcatgagccccg	12	23	0	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr3:150877791C>T	ENST00000474524.1	+	7	1048	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	MED12L_ENST00000309237.4_Missense_Mutation_p.P337L|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.P337L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	337						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGGCCCCCCCGGCCCTGGC	0.582																																																	0								ENSG00000144893						82	94	90					3																	150877791		2203	4300	6503	MED12L	SO:0001583	missense	0			-	HGNC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1010C>T	3.37:g.150877791C>T	ENSP00000417235:p.Pro337Leu	Somatic	0	27	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P337L	ENST00000474524.1	37	c.1010	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307815	0.81247	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.33654	1.4;1.4;1.4	5.41	5.41	0.78517	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.068461	0.64402	D	0.000008	T	0.39655	0.1086	L	0.47716	1.5	0.80722	D	1	B;B;P	0.35575	0.042;0.034;0.51	B;B;B	0.38428	0.098;0.037;0.273	T	0.35847	-0.9772	10	0.87932	D	0	-18.0086	18.813	0.92065	0.0:1.0:0.0:0.0	.	337;337;337	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	L	337	ENSP00000403308:P337L;ENSP00000310760:P337L;ENSP00000417235:P337L	ENSP00000310760:P337L	P	+	2	0	MED12L	152360481	0.058000	0.20735	0.998000	0.56505	0.998000	0.95712	3.484000	0.53201	2.533000	0.85409	0.561000	0.74099	CCC	-	pfam_Mediator_Med12_LCEWAV		0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	protein_coding	OTTHUMT00000357707.2	C	NM_053002	-		150877791	1	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	SNP	0.993	T	T	150877791	C	T	150877791	3	4	82	1	0	0	0	0	1	0	0	0	9431	623	22	2	1036	2	MED12L	3	150877791	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	88629236	150877791	47144639	17	4594											
TMPRSS11E	28983	genome.wustl.edu	37	chr4	69343294	69343294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgcatcctatgagttTcaaccaggtgatgtgatgtt	10	8	1	4			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr4:69343294T>C	ENST00000305363.4	+	8	979	c.915T>C	c.(913-915)ttT>ttC	p.F305F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	305	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCTATGAGTTTCAACCAGGTG	0.398																																																	0								ENSG00000087128						259	248	252					4																	69343294		2203	4300	6503	TMPRSS11E	SO:0001819	synonymous_variant	0			-	HGNC	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.915T>C	4.37:g.69343294T>C		Somatic	0	39	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	85	28.57	A6NL71|Q14DC8|Q6UW31	Silent	SNP							pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.F305	ENST00000305363.4	37	c.915	CCDS33993.1	4																																																																																			-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1		0.398	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11E	protein_coding	OTTHUMT00000360584.1	T	NM_014058	-		69343294	1	no_errors	ENST00000305363	ensembl	human	known	74_37	silent	SNP	0.000	C	C	69343294	T	C	69343294	2	2	82	1	0	0	0	0	0	0	0	1	16249	1780	62	5		5	TMPRSS11E	4	69343294	Silent	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09		69343294	121810982	18	4595											
MAP9	79884	genome.wustl.edu	37	chr4	156273880	156273880	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagcttcctttttttcattCctatagagcatagtataaaa	4	7	1	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr4:156273880C>T	ENST00000311277.4	-	13	1952	c.1689G>A	c.(1687-1689)tgG>tgA	p.W563*	AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608092.1_RNA|MAP9_ENST00000515654.1_Splice_Site_p.W539*|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	563					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTTTTCATTCCTATAGAGCA	0.279																																																	0								ENSG00000164114						60	61	61					4																	156273880		2200	4291	6491	MAP9	SO:0001630	splice_region_variant	0			-	HGNC	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1689-1G>A	4.37:g.156273880C>T		Somatic	0	19	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Nonsense_Mutation	SNP							NULL	p.W563*	ENST00000311277.4	37	c.1689	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	38	7.154566	0.98099	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	.	.	.	5.24	5.24	0.73138	.	0.353403	0.31624	N	0.007328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6784	0.68998	0.0:1.0:0.0:0.0	.	.	.	.	X	563;539	.	ENSP00000310593:W563X	W	-	3	0	MAP9	156493330	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	2.242000	0.43106	2.586000	0.87340	0.650000	0.86243	TGG	-	NULL		0.279	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	protein_coding	OTTHUMT00000257771.3	C	NM_001039580	-	Nonsense_Mutation	156273880	-1	no_errors	ENST00000311277	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	156273880	C	T	156273880	5	4	82	1	0	0	0	0	0	0	1	0	9272	869	30	2	262	2	MAP9	4	156273880	Splice_Site	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	86930586	156273880	34880396	19	4596											
NUP155	9631	genome.wustl.edu	37	chr5	37348686	37348686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccttgtccatcttgtcCcaaatcatacacctgtgaat	4	13	2	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr5:37348686C>T	ENST00000231498.3	-	9	1119	c.916G>A	c.(916-918)Gga>Aga	p.G306R	NUP155_ENST00000381843.2_Missense_Mutation_p.G247R|NUP155_ENST00000513532.1_Missense_Mutation_p.G306R	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	306					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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 pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATCTTGTCCCAAATCATAC	0.333																																																	0								ENSG00000113569						123	111	115					5																	37348686		2203	4300	6503	NUP155	SO:0001583	missense	0			-	HGNC	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.916G>A	5.37:g.37348686C>T	ENSP00000231498:p.Gly306Arg	Somatic	0	20	0		0.74661848012032	11	47.62	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	Q9UBE9|Q9UFL5	Missense_Mutation	SNP							pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.G306R	ENST00000231498.3	37	c.916	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006277	0.93287	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.44482	0.92;0.92;0.92	5.84	5.84	0.93424	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76558	-0.2915	10	0.72032	D	0.01	-2.2182	20.1535	0.98095	0.0:1.0:0.0:0.0	.	306;306	E9PF10;O75694	.;NU155_HUMAN	R	306;247;268;306	ENSP00000231498:G306R;ENSP00000371265:G247R;ENSP00000422019:G306R	ENSP00000231498:G306R	G	-	1	0	NUP155	37384443	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.073000	0.76784	2.764000	0.94973	0.650000	0.86243	GGA	-	pfam_Nucleoporin_Nup133/Nup155_N		0.333	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298	-		37348686	-1	no_errors	ENST00000231498	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37348686	C	T	37348686	3	4	82	1	0	0	0	0	1	0	0	0	10758	632	22	2	3367	2	NUP155	5	37348686	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		37348686	143566574	20	4597											
SGTB	54557	genome.wustl.edu	37	chr5	64976603	64976603	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgcttcttcaaatttattCaaggcagtgagggccagcct	9	10	3	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr5:64976603C>A	ENST00000381007.4	-	7	733	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	166										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CAAATTTATTCAAGGCAGTGA	0.358																																																	0								ENSG00000197860						89	87	87					5																	64976603		2203	4300	6503	SGTB	SO:0001583	missense	0			-	HGNC	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.498G>T	5.37:g.64976603C>A	ENSP00000370395:p.Leu166Phe	Somatic	0	21	0		0.74661848012032	16	23.81	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21		Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L166F	ENST00000381007.4	37	c.498	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097535	0.76870	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.70986	-0.53;-0.53	5.31	4.41	0.53225	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.229885	0.50627	N	0.000104	T	0.80428	0.4621	M	0.88310	2.945	0.26816	N	0.968887	P	0.40909	0.732	P	0.47470	0.548	T	0.76438	-0.2959	10	0.87932	D	0	-17.9997	13.1153	0.59297	0.0:0.9195:0.0:0.0805	.	166	Q96EQ0	SGTB_HUMAN	F	166	ENSP00000370395:L166F;ENSP00000421447:L166F	ENSP00000370395:L166F	L	-	3	2	SGTB	65012359	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.761000	0.68801	1.182000	0.42928	0.557000	0.71058	TTG	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.358	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	protein_coding	OTTHUMT00000215057.2	C	NM_019072	-		64976603	-1	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64976603	C	A	64976603	3	1	82	1	0	0	0	0	1	0	0	0	14234	825	29	3	436	3	SGTB	5	64976603	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	27627917	64976603	115938657	21	4598											
PCDHA6	56142	genome.wustl.edu	37	chr5	140208853	140208853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcgctgacgcctcacGtccctttcaagctggtgtcc	9	16	2	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr5:140208853G>A	ENST00000529310.1	+	1	1291	c.1177G>A	c.(1177-1179)Gtc>Atc	p.V393I	PCDHA6_ENST00000527624.1_Missense_Mutation_p.V393I|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_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	393	Cadherin 4. {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)			GACGCCTCACGTCCCTTTCAA	0.552																																																	0								ENSG00000081842						187	172	177					5																	140208853		2203	4300	6503	PCDHA6	SO:0001583	missense	0			-	HGNC	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.1177G>A	5.37:g.140208853G>A	ENSP00000433378:p.Val393Ile	Somatic	0	67	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	67	39.64	O75283|Q9NRT8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V393I	ENST00000529310.1	37	c.1177	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	0.189	-1.054897	0.01965	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.51071	0.72;0.72	3.7	2.82	0.32997	Cadherin (4);Cadherin-like (1);	0.244071	0.19921	U	0.103096	T	0.22936	0.0554	N	0.12443	0.215	0.09310	N	1	B;B;P	0.36944	0.099;0.069;0.574	B;B;B	0.26517	0.016;0.042;0.07	T	0.09058	-1.0692	10	0.44086	T	0.13	.	8.0773	0.30724	0.0914:0.1599:0.7487:0.0	.	393;393;393	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	I	393	ENSP00000433378:V393I;ENSP00000434113:V393I	ENSP00000434113:V393I	V	+	1	0	PCDHA6	140189037	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.220000	0.09215	0.882000	0.36016	0.313000	0.20887	GTC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	G	NM_018909	-		140208853	1	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	SNP	0.017	A	A	140208853	G	A	140208853	3	1	82	1	0	0	0	0	1	0	0	0	11530	1145	40	1	1179	1	PCDHA6	5	140208853	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	75232250	140208853	40706407	22	4599											
MDC1	9656	genome.wustl.edu	37	chr6	30673085	30673085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgtggaggtggaaggcCggagctcaggggctgtgggc	22	7	2	0	rs200569280		TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr6:30673085C>T	ENST00000376406.3	-	10	4522	c.3875G>A	c.(3874-3876)cGg>cAg	p.R1292Q	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1028Q	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1292	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGTGGAAGGCCGGAGCTCAGG	0.547								Other conserved DNA damage response genes																																									0								ENSG00000137337						134	150	144					6																	30673085		2203	4300	6503	MDC1	SO:0001583	missense	0			-	HGNC	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3875G>A	6.37:g.30673085C>T	ENSP00000365588:p.Arg1292Gln	Somatic	0	49	0		0.74661848012032	30	6.25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP							pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.R1292Q	ENST00000376406.3	37	c.3875	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	0.461	-0.889245	0.02511	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.03580	3.88;3.88	3.06	1.87	0.25490	.	.	.	.	.	T	0.00328	0.0010	N	0.00642	-1.3	0.09310	N	1	B;B	0.28178	0.202;0.0	B;B	0.17979	0.02;0.0	T	0.32322	-0.9911	9	0.12766	T	0.61	.	5.0301	0.14405	0.0:0.2672:0.0:0.7328	.	1028;1292	Q14676-2;Q14676	.;MDC1_HUMAN	Q	1292;1028;899	ENSP00000365588:R1292Q;ENSP00000365587:R1028Q	ENSP00000365587:R1028Q	R	-	2	0	MDC1	30781064	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.260000	0.18424	0.132000	0.18615	-0.540000	0.04249	CGG	-	NULL		0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	protein_coding	OTTHUMT00000076103.1	C	NM_014641	rs200569280		30673085	-1	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30673085	C	T	30673085	3	4	82	1	0	0	0	0	1	0	0	0	9405	652	23	1	2418	1	MDC1	6	30673085	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		30673085	140441982	23	4600											
C6orf138	442213	genome.wustl.edu	37	chr6	47846497	47846497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaacgcccagctcaaTtgaggtgacgctaagaatta	10	11	1	4			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr6:47846497T>C	ENST00000339488.4	-	3	2116	c.2083A>G	c.(2083-2085)Att>Gtt	p.I695V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	695						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CCCAGCTCAATTGAGGTGACG	0.448																																																	0								ENSG00000244694						89	86	87					6																	47846497		2203	4300	6503	PTCHD4	SO:0001583	missense	0			-	HGNC		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2083A>G	6.37:g.47846497T>C	ENSP00000341914:p.Ile695Val	Somatic	0	27	0		0.74661848012032	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	9	52.63	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.I695V	ENST00000339488.4	37	c.2083	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	T	0.758	-0.770348	0.02974	.	.	ENSG00000244694	ENST00000339488	D	0.88818	-2.43	5.91	5.91	0.95273	.	0.056242	0.64402	D	0.000002	T	0.74627	0.3741	N	0.17278	0.47	0.80722	D	1	B	0.14012	0.009	B	0.25405	0.06	T	0.71163	-0.4673	10	0.32370	T	0.25	.	16.35	0.83199	0.0:0.0:0.0:1.0	.	695	Q6ZW05	CF138_HUMAN	V	695	ENSP00000341914:I695V	ENSP00000341914:I695V	I	-	1	0	C6orf138	47954456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.533000	0.60615	2.270000	0.75569	0.528000	0.53228	ATT	-	pfam_Patched		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	protein_coding	OTTHUMT00000317987.2	T	NM_001013732	-		47846497	-1	no_errors	ENST00000339488	ensembl	human	known	74_37	missense	SNP	1.000	C	C	47846497	T	C	47846497	3	2	82	1	0	0	0	0	1	0	0	0	2334	1493	52	5	461	5	C6orf138	6	47846497	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	17173412	47846497	123268570	24	4601											
COL12A1	1303	genome.wustl.edu	37	chr6	75811746	75811746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcctggctctccagcaTcacctttcatcccttggcga	8	15	3	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr6:75811746T>A	ENST00000322507.8	-	57	8747	c.8438A>T	c.(8437-8439)gAt>gTt	p.D2813V	COL12A1_ENST00000483888.2_Missense_Mutation_p.D2813V|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2737V|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1649V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2813	Collagen-like 2.|Triple-helical region (COL2) with 1 imperfection.				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						CTCTCCAGCATCACCTTTCAT	0.458																																																	0								ENSG00000111799						201	202	201					6																	75811746		1953	4140	6093	COL12A1	SO:0001583	missense	0			-	HGNC	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.8438A>T	6.37:g.75811746T>A	ENSP00000325146:p.Asp2813Val	Somatic	0	28	0		0.74661848012032	574	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.D2813V	ENST00000322507.8	37	c.8438	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155473	0.78114	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	5.83	5.83	0.93111	.	0.107652	0.64402	D	0.000007	D	0.95395	0.8505	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95716	0.8762	10	0.59425	D	0.04	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	1649;2813	Q99715-2;Q99715	.;COCA1_HUMAN	V	2813;451;2737;1649;2737;2813	ENSP00000325146:D2813V;ENSP00000399812:D451V;ENSP00000305147:D1649V;ENSP00000412864:D2737V;ENSP00000421216:D2813V	ENSP00000325146:D2813V	D	-	2	0	COL12A1	75868466	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	6.444000	0.73452	2.226000	0.72624	0.533000	0.62120	GAT	-	pfam_Collagen		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	T	NM_004370	-		75811746	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75811746	T	A	75811746	3	1	82	1	0	0	0	0	1	0	0	0	3671	1435	50	5	793	5	COL12A1	6	75811746	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	27965249	75811746	95303321	25	4602											
LAMA2	3908	genome.wustl.edu	37	chr6	129618898	129618898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaattcttttgggtctaaGtcattcgactgtgaagagag	11	6	3	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr6:129618898G>A	ENST00000421865.2	+	21	2974	c.2925G>A	c.(2923-2925)aaG>aaA	p.K975K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	975	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)			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)		TTGGGTCTAAGTCATTCGACT	0.483																																																	0								ENSG00000196569						99	89	92					6																	129618898		2203	4300	6503	LAMA2	SO:0001819	synonymous_variant	0			-	HGNC	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.2925G>A	6.37:g.129618898G>A		Somatic	0	27	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	55	26.67	Q14736|Q5VUM2|Q93022	Silent	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.K975	ENST00000421865.2	37	c.2925	CCDS5138.1	6																																																																																			-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.483	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	G		-		129618898	1	no_errors	ENST00000421865	ensembl	human	known	74_37	silent	SNP	0.963	A	A	129618898	G	A	129618898	2	1	82	1	0	0	0	0	0	0	0	1	8608	1020	36	2		2	LAMA2	6	129618898	Silent	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	53807152	129618898	41496169	26	4603											
TMED4	222068	genome.wustl.edu	37	chr7	44621732	44621732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagagcccctgggcgcctGtggcgcacagcgcgagaagc	16	13	0	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr7:44621732G>A	ENST00000457408.2	-	1	126	c.74C>T	c.(73-75)aCa>aTa	p.T25I	TMED4_ENST00000289577.5_Missense_Mutation_p.T25I|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.T25I	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	25					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTGGGCGCCTGTGGCGCACAG	0.687																																																	0								ENSG00000158604						16	14	15					7																	44621732		2160	4217	6377	TMED4	SO:0001583	missense	0			-	HGNC	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.74C>T	7.37:g.44621732G>A	ENSP00000404042:p.Thr25Ile	Somatic	0	30	0		0.74661848012032	172	48.81	164	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP							pfam_GOLD,pfscan_GOLD	p.T25I	ENST00000457408.2	37	c.74	CCDS5493.1	7	.	.	.	.	.	.	.	.	.	.	G	3.082	-0.188877	0.06299	.	.	ENSG00000158604	ENST00000457408;ENST00000289577;ENST00000419520;ENST00000481238	T;T;T	0.44881	2.23;0.91;1.46	5.05	0.963	0.19649	.	0.869149	0.10102	N	0.715791	T	0.20861	0.0502	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	0.21518	-1.0243	10	0.37606	T	0.19	-8.8202	1.0005	0.01476	0.2803:0.1553:0.4047:0.1597	.	25;25	Q7Z7H5-3;Q7Z7H5	.;TMED4_HUMAN	I	25	ENSP00000404042:T25I;ENSP00000289577:T25I;ENSP00000417443:T25I	ENSP00000289577:T25I	T	-	2	0	TMED4	44588257	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.101000	0.10973	-0.112000	0.11979	0.462000	0.41574	ACA	-	NULL		0.687	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED4	protein_coding	OTTHUMT00000251290.1	G	NM_182547	-		44621732	-1	no_errors	ENST00000457408	ensembl	human	known	74_37	missense	SNP	0.000	A	A	44621732	G	A	44621732	3	1	82	1	0	0	0	0	1	0	0	0	16013	1377	48	2	629	2	TMED4	7	44621732	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		44621732	114516931	27	4604											
PCLO	27445	genome.wustl.edu	37	chr7	82545961	82545961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctctgcttgtttctttcGaagttttgcagactcccttt	7	10	2	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr7:82545961G>A	ENST00000333891.9	-	7	11678	c.11341C>T	c.(11341-11343)Cga>Tga	p.R3781*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3781*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R501*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3781*(2)		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						TGTTTCTTTCGAAGTTTTGCA	0.443																																																	2	Substitution - Nonsense(2)	cervix(2)						ENSG00000186472						126	113	117					7																	82545961		1904	4134	6038	PCLO	SO:0001587	stop_gained	0			-	HGNC	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.11341C>T	7.37:g.82545961G>A	ENSP00000334319:p.Arg3781*	Somatic	0	21	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13		Nonsense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R3781*	ENST00000333891.9	37	c.11341	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324827	0.81580	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	6.04	0.584	0.17422	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.497	0.87720	0.0:0.0:0.6521:0.3479	.	.	.	.	X	3781;3781;501	.	ENSP00000334319:R3781X	R	-	1	2	PCLO	82383897	0.976000	0.34144	0.808000	0.32385	0.966000	0.64601	1.593000	0.36686	0.140000	0.18849	-0.375000	0.07067	CGA	-	NULL		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82545961	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	SNP	0.768	A	A	82545961	G	A	82545961	4	1	82	1	0	0	0	0	0	1	0	0	11585	1066	37	1	4180	1	PCLO	7	82545961	Nonsense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	37924229	82545961	76592702	28	4605											
CASD1	64921	genome.wustl.edu	37	chr7	94157518	94157518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggattttctgtggcatcctGaagttaatggttctatgaaa	10	5	2	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr7:94157518G>A	ENST00000297273.4	+	5	702	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	139						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGGCATCCTGAAGTTAATGG	0.289																																																	0								ENSG00000127995						144	152	149					7																	94157518		2203	4300	6503	CASD1	SO:0001583	missense	0			-	HGNC	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.415G>A	7.37:g.94157518G>A	ENSP00000297273:p.Glu139Lys	Somatic	0	72	0		0.74661848012032	16	38.46	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	97	38.36	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP							pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.E139K	ENST00000297273.4	37	c.415	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945208	0.92593	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	T;T	0.17370	2.28;2.28	4.83	4.83	0.62350	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.68952	2.095	0.80722	D	1	D;D;D	0.69078	0.982;0.997;0.997	P;D;D	0.80764	0.877;0.992;0.994	T	0.28170	-1.0052	10	0.52906	T	0.07	.	18.3072	0.90187	0.0:0.0:1.0:0.0	.	139;139;139	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	K	70;139	ENSP00000396261:E70K;ENSP00000297273:E139K	ENSP00000297273:E139K	E	+	1	0	CASD1	93995454	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.677000	0.91203	2.375000	0.81037	0.655000	0.94253	GAA	-	superfamily_Cyclin-like		0.289	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	protein_coding	OTTHUMT00000255216.1	G	NM_022900	-		94157518	1	no_errors	ENST00000297273	ensembl	human	known	74_37	missense	SNP	1.000	A	A	94157518	G	A	94157518	3	1	82	1	0	0	0	0	1	0	0	0	2666	1291	45	2	433	2	CASD1	7	94157518	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	11611557	94157518	64981145	29	4606											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121624027	121624028	+	Frame_Shift_Ins	INS	-	-	T													atctttttttcagttggctgINSttttttgtgaagttcttaca							TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr7:121624027_121624028insT	ENST00000393386.2	+	8	1195_1196	c.784_785insT	c.(784-786)gttfs	p.V262fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.V262fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	262	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCAGTTGGCTGTTTTTTGTGAA	0.317																																																	0								ENSG00000106278																																			PTPRZ1	SO:0001589	frameshift_variant	0				HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.790dupT	7.37:g.121624033_121624033dupT	ENSP00000377047:p.Val262fs	Somatic	0	28	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	56	15.15	A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Ins	INS							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.C264fs	ENST00000393386.2	37	c.784_785	CCDS34740.1	7																																																																																			-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.317	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	-	NM_002851			121624028	1	no_errors	ENST00000393386	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:1.000	T	T	121624028	-	T	121624027	7	5	82	1	0	1	1	0	0	0	0	0	12822	1377	48	0	814	0	PTPRZ1	7	121624027	Frame_Shift_Ins	INS	-	TCGA-DX-A6Z2-01A-12D-A36J-09	27466509	121624027	37514636	30	4607											
RUNX1T1	862	genome.wustl.edu	37	chr8	92998487	92998487	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttcccggtctgcttcttGacaccgccttagtacggtga	9	13	3	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr8:92998487G>C	ENST00000523629.1	-	9	1598	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q355E|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q345E|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q382E|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q393E|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q345E|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q355E|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q345E	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)	382	Important for oligomerization.				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)			TCTGCTTCTTGACACCGCCTT	0.488																																																	0								ENSG00000079102						133	132	132					8																	92998487		2203	4300	6503	RUNX1T1	SO:0001583	missense	0			-	HGNC	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.1144C>G	8.37:g.92998487G>C	ENSP00000428543:p.Gln382Glu	Somatic	0	35	0		0.74661848012032	29	32.56	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	75	24.24	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP							pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.Q393E	ENST00000523629.1	37	c.1177	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.263704	0.95399	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	M	0.71581	2.175	0.80722	D	1	P;D;P	0.61697	0.944;0.99;0.93	P;D;P	0.67548	0.599;0.952;0.839	T	0.76782	-0.2832	10	0.62326	D	0.03	-17.5096	19.773	0.96379	0.0:0.0:1.0:0.0	.	393;382;355	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	E	382;355;382;345;345;345;393;355	ENSP00000428543:Q382E;ENSP00000379520:Q355E;ENSP00000265814:Q382E;ENSP00000353504:Q345E;ENSP00000390137:Q345E;ENSP00000428742:Q345E;ENSP00000402257:Q393E;ENSP00000430728:Q355E	ENSP00000265814:Q382E	Q	-	1	0	RUNX1T1	93067663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	CAA	-	pfam_NHR2		0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635	-		92998487	-1	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	SNP	1.000	C	C	92998487	G	C	92998487	3	2	82	1	0	0	0	0	1	0	0	0	13755	1299	45	4	686	4	RUNX1T1	8	92998487	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		92998487	53365535	31	4608											
KIAA1539	80256	genome.wustl.edu	37	chr9	35108025	35108025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctctggcccccagcccagGgcctctcttcagctcccggg	10	20	3	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr9:35108025G>T	ENST00000378561.1	-	2	3302	c.247C>A	c.(247-249)Cct>Act	p.P83T	FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.P83T|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378554.2_Missense_Mutation_p.P83T|FAM214B_ENST00000378557.1_Missense_Mutation_p.P83T|FAM214B_ENST00000605244.1_Missense_Mutation_p.P83T|FAM214B_ENST00000603301.1_Missense_Mutation_p.P83T|FAM214B_ENST00000488109.2_Missense_Mutation_p.P83T			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	83						nucleus (GO:0005634)											CCCAGCCCAGGGCCTCTCTTC	0.637																																																	0								ENSG00000005238						35	36	36					9																	35108025		2203	4297	6500	FAM214B	SO:0001583	missense	0			-	HGNC	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.247C>A	9.37:g.35108025G>T	ENSP00000367823:p.Pro83Thr	Somatic	0	97	0		0.74661848012032	24	42.86	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	128	31.75	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP							NULL	p.P83T	ENST00000378561.1	37	c.247	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861812	0.51482	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.71	4.71	0.59529	.	0.179123	0.39834	N	0.001248	T	0.55721	0.1938	L	0.58101	1.795	0.27600	N	0.949002	D	0.89917	1.0	D	0.83275	0.996	T	0.51505	-0.8697	9	0.72032	D	0.01	-3.1149	7.2757	0.26283	0.0934:0.2307:0.6759:0.0	.	83	Q7L5A3	K1539_HUMAN	T	83	.	ENSP00000319897:P83T	P	-	1	0	KIAA1539	35098025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.862000	0.56009	2.455000	0.83008	0.555000	0.69702	CCT	-	NULL		0.637	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	protein_coding	OTTHUMT00000052261.1	G	NM_025182	-		35108025	-1	no_errors	ENST00000322813	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35108025	G	T	35108025	3	4	82	1	0	0	0	0	1	0	0	0	8244	1232	43	3	1397	3	KIAA1539	9	35108025	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		35108025	106105406	32	4609											
SGMS1	259230	genome.wustl.edu	37	chr10	52066985	52066985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaaaggccaatggtaagatcGaggtacaattccttggacat	11	7	0	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr10:52066985G>C	ENST00000361781.2	-	11	2118	c.1159C>G	c.(1159-1161)Cga>Gga	p.R387G	SGMS1_ENST00000429490.1_Missense_Mutation_p.R218G	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	393					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000198964						123	107	112					10																	52066985		2203	4300	6503	SGMS1	SO:0001583	missense	0			-	HGNC	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.1159C>G	10.37:g.52066985G>C	ENSP00000354829:p.Arg387Gly	Somatic	0	32	0		0.74661848012032	19	59.57	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	27	48.08	Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM	p.R387G	ENST00000361781.2	37	c.1159	CCDS7240.1	10	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463748	0.26335	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	T	0.46451	0.87	5.58	4.68	0.58851	.	0.065062	0.64402	D	0.000007	T	0.50820	0.1638	M	0.71036	2.16	0.80722	D	1	P;D	0.58268	0.87;0.982	B;P	0.55011	0.319;0.766	T	0.49224	-0.8962	10	0.21540	T	0.41	-9.5426	8.6492	0.34025	0.1716:0.0:0.8284:0.0	.	218;393	B4DJU2;Q86VZ5	.;SMS1_HUMAN	G	187;387;218	ENSP00000354829:R387G	ENSP00000354829:R387G	R	-	1	2	SGMS1	51736991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.287000	0.72671	1.494000	0.48533	0.655000	0.94253	CGA	-	NULL		0.493	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SGMS1	protein_coding	OTTHUMT00000048074.2	G	NM_147156	-		52066985	-1	no_errors	ENST00000361781	ensembl	human	known	74_37	missense	SNP	1.000	C	C	52066985	G	C	52066985	3	2	82	1	0	0	0	0	1	0	0	0	14222	1066	37	4	86	4	SGMS1	10	52066985	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		52066985	83467762	33	4610											
CDH23	64072	genome.wustl.edu	37	chr10	73461843	73461843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcatccagccacccaAcaagttctacagcctcaaca	5	16	2	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr10:73461843A>G	ENST00000224721.6	+	22	2482	c.2477A>G	c.(2476-2478)aAc>aGc	p.N826S	CDH23_ENST00000299366.7_Missense_Mutation_p.N866S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	821	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						CAGCCACCCAACAAGTTCTAC	0.652																																																	0								ENSG00000107736						103	126	118					10																	73461843		2171	4260	6431	CDH23	SO:0001583	missense	0			-	HGNC	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.2477A>G	10.37:g.73461843A>G	ENSP00000224721:p.Asn826Ser	Somatic	0	32	0		0.74661848012032	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N826S	ENST00000224721.6	37	c.2477		10	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537079	0.65085	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.061483	0.64402	D	0.000008	T	0.60418	0.2267	N	0.16166	0.38	0.80722	D	1	D;B;B	0.59767	0.986;0.286;0.153	D;B;B	0.70935	0.971;0.282;0.183	T	0.63283	-0.6672	9	0.38643	T	0.18	.	15.7079	0.77598	1.0:0.0:0.0:0.0	.	821;824;821	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	S	826;821;821;824;824;338	.	ENSP00000224721:N826S	N	+	2	0	CDH23	73131849	1.000000	0.71417	0.990000	0.47175	0.186000	0.23388	9.226000	0.95229	2.108000	0.64289	0.459000	0.35465	AAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	A	NM_052836	-		73461843	1	no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	SNP	1.000	G	G	73461843	A	G	73461843	3	3	82	1	0	0	0	0	1	0	0	0	3110	43	2	5	2775	5	CDH23	10	73461843	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09	21394858	73461843	62072904	34	4611											
LRDD	79751	genome.wustl.edu	37	chr11	799456	799456	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcagccacgtcctgccGgtcactctgctccagggcct	9	18	4	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr11:799456G>T	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Silent_p.R862R|PIDD_ENST00000411829.2_Silent_p.R845R	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTCCTGCCGGTCACTCTGC	0.682																																					Colon(93;848 1468 3270 23355 49636)												0								ENSG00000177595						52	52	52					11																	799456		2202	4292	6494	PIDD	SO:0001631	upstream_gene_variant	0			-	HGNC	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799456G>T	Exception_encountered	Somatic	0	43	0		0.74661848012032	101	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP							pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.R862	ENST00000531214.1	37	c.2584	CCDS7715.1	11																																																																																			-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain		0.682	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	protein_coding	OTTHUMT00000384124.1	G		-		799456	-1	no_errors	ENST00000347755	ensembl	human	known	74_37	silent	SNP	1.000	T	T	799456	G	T	799456	1	4	82	0	1	0	0	0	0	0	0	0	8938	1115	39	3		3	LRDD	11	799456	5'Flank	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		799456	134207060	35	4612											
OR5AP2	338675	genome.wustl.edu	37	chr11	56409135	56409135	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagtacatgaagaggaTtgttccaaagaatatggtga	12	5	0	4			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr11:56409135T>A	ENST00000302981.1	-	1	780	c.781A>T	c.(781-783)Atc>Ttc	p.I261F	OR5AP2_ENST00000544374.1_Missense_Mutation_p.I262F	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	261						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(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ATGAAGAGGATTGTTCCAAAG	0.463																																																	0								ENSG00000172464						115	99	105					11																	56409135		2201	4296	6497	OR5AP2	SO:0001583	missense	0			-	HGNC	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.781A>T	11.37:g.56409135T>A	ENSP00000303111:p.Ile261Phe	Somatic	0	28	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48	B2RNM8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I262F	ENST00000302981.1	37	c.784	CCDS31534.1	11	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033749	0.54896	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00188	8.59;8.59	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.130715	0.34676	N	0.003761	T	0.00412	0.0013	M	0.69823	2.125	0.09310	N	1	D	0.67145	0.996	D	0.66084	0.941	T	0.47711	-0.9096	10	0.72032	D	0.01	.	7.4617	0.27300	0.1402:0.0:0.146:0.7139	.	261	Q8NGF4	O5AP2_HUMAN	F	262;261	ENSP00000442701:I262F;ENSP00000303111:I261F	ENSP00000303111:I261F	I	-	1	0	OR5AP2	56165711	0.000000	0.05858	0.988000	0.46212	0.940000	0.58332	-0.776000	0.04674	2.090000	0.63153	0.519000	0.50382	ATC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	protein_coding	OTTHUMT00000391613.1	T	NM_001002925	-		56409135	-1	no_errors	ENST00000544374	ensembl	human	known	74_37	missense	SNP	0.019	A	A	56409135	T	A	56409135	3	1	82	1	0	0	0	0	1	0	0	0	11146	1493	52	5	173	5	OR5AP2	11	56409135	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	55609679	56409135	78597381	36	4613											
PPFIA1	8500	genome.wustl.edu	37	chr11	70184503	70184503	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgtcctaaacattgaAgcactgagggctgaactaga	10	9	0	4			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr11:70184503A>T	ENST00000253925.7	+	13	1730	c.1515A>T	c.(1513-1515)gaA>gaT	p.E505D	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E505D	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	505					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TAAACATTGAAGCACTGAGGG	0.408																																																	0								ENSG00000131626						142	134	137					11																	70184503		2200	4294	6494	PPFIA1	SO:0001583	missense	0			-	HGNC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1515A>T	11.37:g.70184503A>T	ENSP00000253925:p.Glu505Asp	Somatic	0	27	0		0.74661848012032	28	37.78	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	25	48.98	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E505D	ENST00000253925.7	37	c.1515	CCDS31627.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.936|7.936	0.741828|0.741828	0.15642|0.15642	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547|ENST00000530798	T;T|.	0.73363|.	-0.74;-0.74|.	4.45|4.45	1.92|1.92	0.25849|0.25849	.|.	0.066276|.	0.64402|.	U|.	0.000015|.	T|T	0.33469|0.33469	0.0864|0.0864	N|N	0.20574|0.20574	0.59|0.59	0.39213|0.39213	D|D	0.963358|0.963358	B;B|.	0.12013|.	0.005;0.004|.	B;B|.	0.18263|.	0.021;0.015|.	T|T	0.10847|0.10847	-1.0612|-1.0612	10|5	0.39692|.	T|.	0.17|.	.|.	2.5297|2.5297	0.04700|0.04700	0.5259:0.256:0.0862:0.1319|0.5259:0.256:0.0862:0.1319	.|.	505;505|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	D|C	505|57	ENSP00000253925:E505D;ENSP00000374198:E505D|.	ENSP00000253925:E505D|.	E|S	+|+	3|1	2|0	PPFIA1|PPFIA1	69862151|69862151	0.991000|0.991000	0.36638|0.36638	0.518000|0.518000	0.27811|0.27811	0.067000|0.067000	0.16453|0.16453	0.653000|0.653000	0.24902|0.24902	0.698000|0.698000	0.31739|0.31739	0.533000|0.533000	0.62120|0.62120	GAA|AGC	-	NULL		0.408	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	protein_coding	OTTHUMT00000393905.1	A	NM_003626	-		70184503	1	no_errors	ENST00000253925	ensembl	human	known	74_37	missense	SNP	0.714	T	T	70184503	A	T	70184503	3	4	82	1	0	0	0	0	1	0	0	0	12311	69	3	5	1561	5	PPFIA1	11	70184503	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09	13775368	70184503	64822013	37	4614											
ANO6	196527	genome.wustl.edu	37	chr12	45741992	45741992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacgaaagcatcatcaAgccagagcaagagtttttca	9	8	3	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr12:45741992A>G	ENST00000320560.8	+	5	729	c.527A>G	c.(526-528)aAg>aGg	p.K176R	ANO6_ENST00000435642.1_Missense_Mutation_p.K176R|ANO6_ENST00000425752.2_Missense_Mutation_p.K176R|ANO6_ENST00000423947.3_Missense_Mutation_p.K197R|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.K158R	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	176					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCATCATCAAGCCAGAGCAA	0.433																																																	0								ENSG00000177119						123	126	125					12																	45741992		2203	4300	6503	ANO6	SO:0001583	missense	0			-	HGNC	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.527A>G	12.37:g.45741992A>G	ENSP00000320087:p.Lys176Arg	Somatic	0	30	0		0.74661848012032	76	42.86	57	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	38.60	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP							pfam_Anoctamin	p.K176R	ENST00000320560.8	37	c.527	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347702	0.61183	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.18	5.18	0.71444	.	0.247458	0.42294	D	0.000738	T	0.67040	0.2851	L	0.41632	1.29	0.42683	D	0.993553	B;B;D;B	0.54601	0.048;0.014;0.967;0.075	B;B;P;B	0.47864	0.015;0.009;0.559;0.019	T	0.64322	-0.6435	10	0.20046	T	0.44	.	15.749	0.77969	1.0:0.0:0.0:0.0	.	158;197;176;176	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	R	176;197;176;176;158	ENSP00000391417:K176R;ENSP00000409126:K197R;ENSP00000413840:K176R;ENSP00000320087:K176R;ENSP00000413137:K158R	ENSP00000320087:K176R	K	+	2	0	ANO6	44028259	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.173000	0.50839	2.261000	0.74972	0.533000	0.62120	AAG	-	NULL		0.433	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	protein_coding	OTTHUMT00000404822.1	A	XM_113743	-		45741992	1	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	SNP	1.000	G	G	45741992	A	G	45741992	3	3	82	1	0	0	0	0	1	0	0	0	701	72	3	5	565	5	ANO6	12	45741992	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09		45741992	88109903	38	4615											
KCNH3	23416	genome.wustl.edu	37	chr12	49948282	49948282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgccccgcgcttcagtcGtggcctccgaggggagctca	14	14	2	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr12:49948282G>A	ENST00000257981.6	+	11	2341	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	694					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|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(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGCTTCAGTCGTGGCCTCCGA	0.652																																																	0								ENSG00000135519						55	53	54					12																	49948282		2203	4300	6503	KCNH3	SO:0001583	missense	0			-	HGNC	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2081G>A	12.37:g.49948282G>A	ENSP00000257981:p.Arg694His	Somatic	0	39	0		0.74661848012032	9	10	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	Q9UQ06	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R694H	ENST00000257981.6	37	c.2081	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061194	0.36373	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.81	3.92	0.45320	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.152220	0.30869	N	0.008719	D	0.89086	0.6615	N	0.08118	0	0.28503	N	0.913891	B	0.12013	0.005	B	0.08055	0.003	T	0.82820	-0.0268	10	0.49607	T	0.09	.	8.027	0.30442	0.1897:0.0:0.8103:0.0	.	694	Q9ULD8	KCNH3_HUMAN	H	694	ENSP00000257981:R694H	ENSP00000257981:R694H	R	+	2	0	KCNH3	48234549	0.000000	0.05858	0.999000	0.59377	0.990000	0.78478	-0.129000	0.10515	1.360000	0.45960	0.563000	0.77884	CGT	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	protein_coding	OTTHUMT00000404571.2	G	NM_012284	-		49948282	1	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	SNP	0.723	A	A	49948282	G	A	49948282	3	1	82	1	0	0	0	0	1	0	0	0	8035	1145	40	1	2123	1	KCNH3	12	49948282	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	4206290	49948282	83903613	39	4616											
ZCCHC8	55596	genome.wustl.edu	37	chr12	122966188	122966188	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagactcttgtctgtcacaCctagtgcatcttgaagttcc	8	11	4	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr12:122966188C>G	ENST00000336229.4	-	10	1029	c.899G>C	c.(898-900)gGt>gCt	p.G300A	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.G62A|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.G62A	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	300					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCTGTCACACCTAGTGCATC	0.408																																																	0								ENSG00000033030						69	67	67					12																	122966188		1832	4082	5914	ZCCHC8	SO:0001583	missense	0			-	HGNC	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.899G>C	12.37:g.122966188C>G	ENSP00000337313:p.Gly300Ala	Somatic	0	34	0		0.74661848012032	30	46.43	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	45	34.29	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP							pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.G300A	ENST00000336229.4	37	c.899		12	.	.	.	.	.	.	.	.	.	.	C	31	5.070779	0.93950	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.70164	-0.24;-0.24;-0.46	5.47	5.47	0.80525	PSP, proline-rich (2);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88920	0.3365	10	0.72032	D	0.01	-18.3053	19.3314	0.94291	0.0:1.0:0.0:0.0	.	300	Q6NZY4	ZCHC8_HUMAN	A	62;62;300;62;62	ENSP00000441423:G62A;ENSP00000438993:G62A;ENSP00000337313:G300A	ENSP00000337313:G300A	G	-	2	0	ZCCHC8	121532141	1.000000	0.71417	0.994000	0.49952	0.901000	0.52897	5.475000	0.66787	2.573000	0.86826	0.455000	0.32223	GGT	-	pfam_PSP,smart_PSP		0.408	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	protein_coding		C	NM_017612	-		122966188	-1	no_errors	ENST00000336229	ensembl	human	known	74_37	missense	SNP	1.000	G	G	122966188	C	G	122966188	3	3	82	1	0	0	0	0	1	0	0	0	17601	507	18	4	1244	4	ZCCHC8	12	122966188	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	73017906	122966188	10885707	40	4617											
UBC	7316	genome.wustl.edu	37	chr12	125396494	125396494	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttcacgaagatttgcatCccacctctgagacggagcac	9	13	3	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr12:125396494C>T	ENST00000538617.1	-	4	1000	c.684G>A	c.(682-684)ggG>ggA	p.G228G	UBC_ENST00000339647.5_Silent_p.G608G|UBC_ENST00000536769.1_Silent_p.G608G|UBC_ENST00000546120.1_Silent_p.G532G|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	608	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATTTGCATCCCACCTCTGA	0.527																																																	0								ENSG00000150991						124	75	92					12																	125396494		2201	4285	6486	UBC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.684G>A	12.37:g.125396494C>T		Somatic	0	28	0		0.74661848012032	1779	65.92	3465	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP							pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.G608	ENST00000538617.1	37	c.1824		12																																																																																			-	pfscan_Ubiquitin_supergroup		0.527	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	protein_coding	OTTHUMT00000400179.1	C	NM_021009	-		125396494	-1	no_errors	ENST00000339647	ensembl	human	known	74_37	silent	SNP	0.620	T	T	125396494	C	T	125396494	2	4	82	1	0	0	0	0	0	0	0	1	16849	842	30	2		2	UBC	12	125396494	Silent	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	2430306	125396494	8455401	41	4618											
RB1	5925	genome.wustl.edu	37	chr13	48941691	48941691	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaataaagatctagatgcaaGattatttttggatcatgata	7	3	2	4			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr13:48941691G>T	ENST00000267163.4	+	10	1139	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	334					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTAGATGCAAGATTATTTTTG	0.289		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139687						71	85	80					13																	48941691		2193	4288	6481	RB1	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1001G>T	13.37:g.48941691G>T	ENSP00000267163:p.Arg334Ile	Somatic	0	26	0		0.74661848012032	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R334I	ENST00000267163.4	37	c.1001	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526119	0.85600	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.97209	-4.29	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.98908	1.0779	10	0.72032	D	0.01	.	18.8309	0.92139	0.0:0.0:1.0:0.0	.	334	P06400	RB_HUMAN	I	313;334	ENSP00000267163:R334I	ENSP00000267163:R334I	R	+	2	0	RB1	47839692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.100000	0.76989	2.521000	0.84997	0.591000	0.81541	AGA	-	NULL		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-		48941691	1	no_errors	ENST00000267163	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48941691	G	T	48941691	3	4	82	1	0	0	0	0	1	0	0	0	13106	942	33	3	1039	3	RB1	13	48941691	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09		48941691	66228187	42	4619											
RNASE12	493901	genome.wustl.edu	37	chr14	21058865	21058865	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacagaagcaccaagaaaatTatcaccattattatcatcag	4	9	3	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr14:21058865T>A	ENST00000556526.1	-	1	117	c.18A>T	c.(16-18)atA>atT	p.I6I	RP11-14J7.6_ENST00000554006.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000555283.1_Silent_p.I6I|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	6						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CCAAGAAAATTATCACCATTA	0.408																																																	0								ENSG00000258436						127	119	122					14																	21058865		2203	4300	6503	RNASE12	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"Ribonucleases, RNase A"	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.18A>T	14.37:g.21058865T>A		Somatic	0	18	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43		Silent	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.I6	ENST00000556526.1	37	c.18	CCDS32037.1	14																																																																																			-	NULL		0.408	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE12	protein_coding	OTTHUMT00000411107.1	T		-		21058865	-1	no_errors	ENST00000556526	ensembl	human	known	74_37	silent	SNP	0.000	A	A	21058865	T	A	21058865	2	1	82	1	0	0	0	0	0	0	0	1	13410	1744	61	5		5	RNASE12	14	21058865	Silent	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09		21058865	86290675	43	4620											
TRAF3	7187	genome.wustl.edu	37	chr14	103369714	103369714	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagtccctccagaaccgcgtGaccgagctggagagcgtgga	15	12	0	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr14:103369714G>A	ENST00000560371.1	+	10	1300	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	TRAF3_ENST00000347662.4_Silent_p.V336V|TRAF3_ENST00000392745.2_Silent_p.V361V|TRAF3_ENST00000539721.1_Silent_p.V278V|TRAF3_ENST00000351691.5_Silent_p.V336V	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	361					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGAACCGCGTGACCGAGCTGG	0.652																																																	0								ENSG00000131323						73	71	72					14																	103369714		2203	4300	6503	TRAF3	SO:0001819	synonymous_variant	0			-	HGNC	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1083G>A	14.37:g.103369714G>A		Somatic	0	22	0		0.74661848012032	10	60	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	8	69.23	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP							pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V361	ENST00000560371.1	37	c.1083	CCDS9975.1	14																																																																																			-	pirsf_TNF_rcpt--assoc_TRAF		0.652	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	protein_coding	OTTHUMT00000415735.1	G	NM_145725	-		103369714	1	no_errors	ENST00000392745	ensembl	human	known	74_37	silent	SNP	1.000	A	A	103369714	G	A	103369714	2	1	82	1	0	0	0	0	0	0	0	1	16446	1277	45	2		2	TRAF3	14	103369714	Silent	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	82310849	103369714	3979826	44	4621											
KLC1	3831	genome.wustl.edu	37	chr14	104123941	104123941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaagcagaaactgcGtgcgcaggttcgtcgtctgt	14	10	1	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr14:104123941G>A	ENST00000348520.6	+	3	639	c.320G>A	c.(319-321)cGt>cAt	p.R107H	KLC1_ENST00000389744.4_Missense_Mutation_p.R107H|KLC1_ENST00000445352.4_Missense_Mutation_p.R107H|KLC1_ENST00000246489.7_Missense_Mutation_p.R107H|KLC1_ENST00000555836.1_Missense_Mutation_p.R107H|KLC1_ENST00000347839.6_Missense_Mutation_p.R107H|KLC1_ENST00000553286.1_Missense_Mutation_p.R107H|KLC1_ENST00000380038.3_Missense_Mutation_p.R107H|KLC1_ENST00000557575.1_Missense_Mutation_p.R107H|KLC1_ENST00000554280.1_Missense_Mutation_p.R107H|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.R279H|KLC1_ENST00000452929.2_Missense_Mutation_p.R107H|KLC1_ENST00000334553.6_Missense_Mutation_p.R107H|KLC1_ENST00000557450.1_Missense_Mutation_p.R107H	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CAGAAACTGCGTGCGCAGGTT	0.537																																																	0								ENSG00000126214						116	89	98					14																	104123941		2203	4300	6503	KLC1	SO:0001583	missense	0			-	HGNC	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.320G>A	14.37:g.104123941G>A	ENSP00000341154:p.Arg107His	Somatic	0	31	0		0.74661848012032	164	4.09	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP							pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R107H	ENST00000348520.6	37	c.320	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898752	0.91962	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.70595	2.14	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.988;0.848;0.996;0.994	T	0.68652	-0.5352	10	0.48119	T	0.1	-8.6285	19.7433	0.96241	0.0:0.0:1.0:0.0	.	107;107;279;107;107	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	H	107;107;107;107;107;107;107;107;107;107;107;107;107;107;107;279	ENSP00000450786:R107H;ENSP00000341154:R107H;ENSP00000369377:R107H;ENSP00000374394:R107H;ENSP00000450617:R107H;ENSP00000452487:R107H;ENSP00000334618:R107H;ENSP00000452481:R107H;ENSP00000334523:R107H;ENSP00000246489:R107H;ENSP00000450648:R107H;ENSP00000451242:R107H;ENSP00000414982:R107H;ENSP00000412693:R107H;ENSP00000439065:R279H	ENSP00000246489:R107H	R	+	2	0	KLC1;RP11-73M18.2	103193694	1.000000	0.71417	0.857000	0.33713	0.845000	0.48019	6.436000	0.73417	2.733000	0.93635	0.655000	0.94253	CGT	-	pfam_Rabaptin_Rab5-bd_dom		0.537	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	protein_coding	OTTHUMT00000402947.2	G	NM_005552	-		104123941	1	no_errors	ENST00000334553	ensembl	human	known	74_37	missense	SNP	0.998	A	A	104123941	G	A	104123941	3	1	82	1	0	0	0	0	1	0	0	0	8335	1145	40	1	326	1	KLC1	14	104123941	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	754227	104123941	3225599	45	4622											
CASC5	57082	genome.wustl.edu	37	chr15	40916633	40916633	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactgcacaaagatcaagatCtgattaaggatccacgaaat	7	9	2	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr15:40916633C>G	ENST00000346991.5	+	11	4639	c.4249C>G	c.(4249-4251)Ctg>Gtg	p.L1417V	CASC5_ENST00000399668.2_Missense_Mutation_p.L1391V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1417					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)		AGATCAAGATCTGATTAAGGA	0.363																																																	0								ENSG00000137812						93	88	90					15																	40916633		1864	4099	5963	CASC5	SO:0001583	missense	0			-	HGNC	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.4249C>G	15.37:g.40916633C>G	ENSP00000335463:p.Leu1417Val	Somatic	0	23	0		0.74661848012032	5	50	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP							NULL	p.L1417V	ENST00000346991.5	37	c.4249	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	C	2.011	-0.426988	0.04701	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06294	3.32;3.32	5.12	2.08	0.27032	.	0.645972	0.12791	N	0.438893	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33318	0.194;0.194;0.408	B;B;B	0.26864	0.045;0.045;0.074	T	0.44847	-0.9301	10	0.29301	T	0.29	.	3.746	0.08548	0.3541:0.4338:0.131:0.0811	.	1391;1417;1391	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	1417;1391;1391	ENSP00000335463:L1417V;ENSP00000382576:L1391V	ENSP00000260369:L1391V	L	+	1	2	CASC5	38703925	0.000000	0.05858	0.675000	0.29917	0.953000	0.61014	-0.147000	0.10234	0.229000	0.21039	0.603000	0.83216	CTG	-	NULL		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	protein_coding	OTTHUMT00000390224.2	C	NM_144508	-		40916633	1	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	SNP	0.007	G	G	40916633	C	G	40916633	3	3	82	1	0	0	0	0	1	0	0	0	2665	912	32	4	4287	4	CASC5	15	40916633	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		40916633	61614759	46	4623											
RTF1	23168	genome.wustl.edu	37	chr15	41769421	41769421	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaatccaagatcaactgaAtgagctggaggaacgggcag	12	8	1	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr15:41769421A>T	ENST00000389629.4	+	13	1631	c.1619A>T	c.(1618-1620)aAt>aTt	p.N540I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	540					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|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)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATCAACTGAATGAGCTGGAG	0.532																																																	0								ENSG00000137815						125	131	129					15																	41769421		2203	4300	6503	RTF1	SO:0001583	missense	0			-	HGNC	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1619A>T	15.37:g.41769421A>T	ENSP00000374280:p.Asn540Ile	Somatic	0	28	0		0.74661848012032	77	43.38	59	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.00	Q96BX6	Missense_Mutation	SNP							pfam_Plus-3,smart_Plus3-dom_subgr	p.N540I	ENST00000389629.4	37	c.1619	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599854	0.66332	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.42	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.44542	1.39	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47674	-0.9099	9	0.38643	T	0.18	-25.9816	11.8087	0.52171	0.8685:0.0:0.0:0.1314	.	540	Q92541	RTF1_HUMAN	I	540	.	ENSP00000374280:N540I	N	+	2	0	RTF1	39556713	1.000000	0.71417	0.940000	0.37924	0.990000	0.78478	8.735000	0.91549	1.050000	0.40346	0.460000	0.39030	AAT	-	NULL		0.532	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	protein_coding	OTTHUMT00000258111.1	A	NM_015138	-		41769421	1	no_errors	ENST00000389629	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41769421	A	T	41769421	3	4	82	1	0	0	0	0	1	0	0	0	13729	101	4	5	1669	5	RTF1	15	41769421	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09	852788	41769421	60761971	47	4624											
TGM7	116179	genome.wustl.edu	37	chr15	43585021	43585021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaataactgcattggCtggtgtgaaaagggaaactt	12	6	0	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr15:43585021C>T	ENST00000452443.2	-	3	329	c.325G>A	c.(325-327)Gcc>Acc	p.A109T		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	109					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ACTGCATTGGCTGGTGTGAAA	0.488																																																	0								ENSG00000159495						121	139	133					15																	43585021		2201	4299	6500	TGM7	SO:0001583	missense	0			-	HGNC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.325G>A	15.37:g.43585021C>T	ENSP00000389466:p.Ala109Thr	Somatic	0	58	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	75	39.02		Missense_Mutation	SNP							pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A109T	ENST00000452443.2	37	c.325	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244165	0.39697	.	.	ENSG00000159495	ENST00000452443	D	0.88431	-2.38	5.32	2.33	0.28932	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.265888	0.36555	N	0.002534	D	0.90494	0.7022	M	0.73962	2.25	0.28398	N	0.918753	P	0.47253	0.892	P	0.53360	0.724	D	0.83639	0.0149	10	0.30078	T	0.28	-15.8396	10.4638	0.44596	0.1411:0.5865:0.2723:0.0	.	109	Q96PF1	TGM7_HUMAN	T	109	ENSP00000389466:A109T	ENSP00000389466:A109T	A	-	1	0	TGM7	41372313	0.839000	0.29477	0.810000	0.32431	0.003000	0.03518	1.326000	0.33735	0.306000	0.22856	-0.305000	0.09177	GCC	-	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.488	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	protein_coding	OTTHUMT00000432489.1	C	NM_052955	-		43585021	-1	no_errors	ENST00000452443	ensembl	human	known	74_37	missense	SNP	0.912	T	T	43585021	C	T	43585021	3	4	82	1	0	0	0	0	1	0	0	0	15842	797	28	2	1851	2	TGM7	15	43585021	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	1815600	43585021	58946371	48	4625											
RASGRF1	5923	genome.wustl.edu	37	chr15	79324514	79324514	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtcctctcctcgcagTcaggcttggcctcgtagtgc	11	16	2	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr15:79324514T>A	ENST00000419573.3	-	7	1377	c.1103A>T	c.(1102-1104)gAc>gTc	p.D368V	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D368V|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	368	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTCCTCGCAGTCAGGCTTGGC	0.627																																																	0								ENSG00000058335						174	104	128					15																	79324514		2196	4293	6489	RASGRF1	SO:0001583	missense	0			-	HGNC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1103A>T	15.37:g.79324514T>A	ENSP00000405963:p.Asp368Val	Somatic	0	37	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	23	55.77	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D368V	ENST00000419573.3	37	c.1103	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360178	0.82353	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.62788	0.0	4.62	4.62	0.57501	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.29341	0.073;0.242;0.242;0.082	B;B;B;B	0.33254	0.065;0.16;0.16;0.059	T	0.39722	-0.9600	10	0.29301	T	0.29	.	12.0336	0.53412	0.0:0.0:0.0:1.0	.	368;368;368;368	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	V	368	ENSP00000405963:D368V	ENSP00000378224:D368V	D	-	2	0	RASGRF1	77111569	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.981000	0.56902	1.945000	0.56424	0.402000	0.26972	GAC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.627	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	T	NM_002891	-		79324514	-1	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79324514	T	A	79324514	3	1	82	1	0	0	0	0	1	0	0	0	13080	1667	58	5	2806	5	RASGRF1	15	79324514	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	35739493	79324514	23206878	49	4626											
CNOT1	23019	genome.wustl.edu	37	chr16	58592426	58592426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaatgcagtggtctgAttgggggttgaaaggggtgg	18	5	1	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr16:58592426A>C	ENST00000317147.5	-	18	2615	c.2283T>G	c.(2281-2283)aaT>aaG	p.N761K	CNOT1_ENST00000441024.2_Missense_Mutation_p.N761K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N761K|SNORA50_ENST00000384225.2_RNA|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	761					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGTGGTCTGATTGGGGGTTG	0.473																																																	0								ENSG00000125107						92	82	85					16																	58592426		2198	4300	6498	CNOT1	SO:0001583	missense	0			-	HGNC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2283T>G	16.37:g.58592426A>C	ENSP00000320949:p.Asn761Lys	Somatic	0	47	0		0.74661848012032	39	40.91	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	76	32.74	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP							pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.N761K	ENST00000317147.5	37	c.2283	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	8.812	0.935425	0.18206	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.42900	0.99;0.96	5.38	4.29	0.51040	.	0.040211	0.85682	D	0.000000	T	0.39226	0.1070	N	0.22421	0.69	0.80722	D	1	D;D;D	0.61080	0.989;0.981;0.989	D;D;D	0.72982	0.979;0.932;0.969	T	0.48479	-0.9032	10	0.05959	T	0.93	.	5.9597	0.19293	0.634:0.0:0.366:0.0	.	761;761;761	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	K	761;190;761;761	ENSP00000320949:N761K;ENSP00000413113:N761K	ENSP00000320949:N761K	N	-	3	2	CNOT1	57149927	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.903000	0.39858	0.989000	0.38761	0.533000	0.62120	AAT	-	NULL		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	A	NM_016284	-		58592426	-1	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58592426	A	C	58592426	3	2	82	1	0	0	0	0	1	0	0	0	3619	330	12	5	5197	5	CNOT1	16	58592426	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09		58592426	31762327	50	4627											
TP53	7157	genome.wustl.edu	37	chr17	7573976	7573976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagcctgggcatcctTgagttccaaggcctcattca	8	15	2	1	rs141402957		TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr17:7573976T>C	ENST00000269305.4	-	10	1240	c.1051A>G	c.(1051-1053)Aag>Gag	p.K351E	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.K351E|TP53_ENST00000359597.4_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	351	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.K351E(2)|p.I332fs*5(1)|p.L350fs*28(1)|p.?(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)	TGGGCATCCTTGAGTTCCAAG	0.592		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	13	Whole gene deletion(8)|Substitution - Missense(2)|Deletion - Frameshift(2)|Unknown(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|large_intestine(1)|stomach(1)|urinary_tract(1)						ENSG00000141510						60	46	51					17																	7573976		2203	4300	6503	TP53	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;	-	HGNC	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.1051A>G	17.37:g.7573976T>C	ENSP00000269305:p.Lys351Glu	Somatic	0	18	0		0.74661848012032	14	75	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	10	62.96	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	Missense_Mutation	SNP							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K351E	ENST00000269305.4	37	c.1051	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670342	0.67814	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.93133	-3.17;-3.17	5.43	4.35	0.52113	p53, tetramerisation domain (3);	0.488693	0.23008	N	0.052999	D	0.93723	0.7994	M	0.75447	2.3	0.32658	N	0.518472	P	0.38473	0.633	P	0.46389	0.515	D	0.94081	0.7344	10	0.49607	T	0.09	-24.255	9.4463	0.38699	0.0:0.0846:0.0:0.9154	.	351	P04637	P53_HUMAN	E	351;351;340	ENSP00000269305:K351E;ENSP00000391478:K351E	ENSP00000269305:K351E	K	-	1	0	TP53	7514701	0.982000	0.34865	0.862000	0.33874	0.967000	0.64934	0.993000	0.29680	0.900000	0.36469	0.459000	0.35465	AAG	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	rs141402957		7573976	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.959	C	C	7573976	T	C	7573976	3	2	82	1	0	0	0	0	1	0	0	0	16388	1821	63	5	138	5	TP53	17	7573976	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09		7573976	73621234	51	4628											
ERN1	2081	genome.wustl.edu	37	chr17	62122801	62122801	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctctaactgcttcacgatCgggccatccagggattcctt	8	14	2	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr17:62122801C>T	ENST00000433197.3	-	20	2666	c.2571G>A	c.(2569-2571)ccG>ccA	p.P857P		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTTCACGATCGGGCCATCCA	0.562																																																	0								ENSG00000178607						91	95	94					17																	62122801		2065	4213	6278	ERN1	SO:0001819	synonymous_variant	0			-	HGNC	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2571G>A	17.37:g.62122801C>T		Somatic	0	17	0		0.74661848012032	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00		Silent	SNP							pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.P857	ENST00000433197.3	37	c.2571	CCDS45762.1	17																																																																																			-	pfam_KEN_dom,superfamily_Kinase-like_dom		0.562	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	protein_coding	OTTHUMT00000443734.2	C	NM_001433	-		62122801	-1	no_errors	ENST00000433197	ensembl	human	known	74_37	silent	SNP	0.962	T	T	62122801	C	T	62122801	2	4	82	1	0	0	0	0	0	0	0	1	5239	871	31	1		1	ERN1	17	62122801	Silent	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	54548825	62122801	19072409	52	4629											
ARSG	22901	genome.wustl.edu	37	chr17	66339909	66339909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggtgctgcagcaggCgggttacgtcactgggataa	17	8	1	1	rs201030584		TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr17:66339909C>T	ENST00000448504.2	+	3	1179	c.383C>T	c.(382-384)gCg>gTg	p.A128V	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	128					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.A128V(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGCAGCAGGCGGGTTACGTC	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000141337						67	48	55					17																	66339909		2203	4300	6503	ARSG	SO:0001583	missense	0			-	HGNC	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.383C>T	17.37:g.66339909C>T	ENSP00000407193:p.Ala128Val	Somatic	0	27	0		0.74661848012032	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP							pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A128V	ENST00000448504.2	37	c.383	CCDS11676.1	17	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061080	0.55432	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.56	3.57	0.40892	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.282399	0.33364	N	0.004981	T	0.66005	0.2746	M	0.67517	2.055	0.58432	D	0.999992	D	0.61697	0.99	P	0.55087	0.768	T	0.65438	-0.6168	9	0.28530	T	0.3	.	14.195	0.65664	0.1503:0.8497:0.0:0.0	.	128	Q96EG1	ARSG_HUMAN	V	128	.	ENSP00000413953:A128V	A	+	2	0	ARSG	63851504	0.991000	0.36638	0.132000	0.22025	0.834000	0.47266	4.815000	0.62634	1.237000	0.43756	0.650000	0.86243	GCG	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.562	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	protein_coding	OTTHUMT00000448369.1	C	NM_014960	rs201030584		66339909	1	no_errors	ENST00000448504	ensembl	human	known	74_37	missense	SNP	0.266	T	T	66339909	C	T	66339909	3	4	82	1	0	0	0	0	1	0	0	0	992	768	27	1	389	1	ARSG	17	66339909	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	4217108	66339909	14855301	53	4630											
OR7C1	26664	genome.wustl.edu	37	chr19	14910726	14910726	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catctttgggacagtcgtggAggtaaaacagaggtcagcaa	13	7	2	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr19:14910726A>T	ENST00000248073.2	-	1	297	c.223T>A	c.(223-225)Tcc>Acc	p.S75T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	75					spermatogenesis (GO:0007283)	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(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ACAGTCGTGGAGGTAAAACAG	0.443																																																	0								ENSG00000127530						96	87	90					19																	14910726		2203	4300	6503	OR7C1	SO:0001583	missense	0			-	HGNC	X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.223T>A	19.37:g.14910726A>T	ENSP00000248073:p.Ser75Thr	Somatic	0	59	0		0.74661848012032	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	68	37.61	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75T	ENST00000248073.2	37	c.223	CCDS12317.1	19	.	.	.	.	.	.	.	.	.	.	a	6.137	0.393583	0.11638	.	.	ENSG00000127530	ENST00000248073	T	0.11821	2.74	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	U	0.002428	T	0.09113	0.0225	N	0.25201	0.72	0.25509	N	0.987472	P	0.35307	0.494	B	0.34138	0.176	T	0.23261	-1.0193	10	0.33940	T	0.23	.	10.5226	0.44929	1.0:0.0:0.0:0.0	.	75	O76099	OR7C1_HUMAN	T	75	ENSP00000248073:S75T	ENSP00000248073:S75T	S	-	1	0	OR7C1	14771726	0.000000	0.05858	0.477000	0.27303	0.003000	0.03518	-0.071000	0.11505	1.646000	0.50622	0.443000	0.29094	TCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	protein_coding	OTTHUMT00000466519.1	A		-		14910726	-1	no_errors	ENST00000248073	ensembl	human	known	74_37	missense	SNP	0.876	T	T	14910726	A	T	14910726	3	4	82	1	0	0	0	0	1	0	0	0	11219	304	11	5	741	5	OR7C1	19	14910726	Missense_Mutation	SNP	A	TCGA-DX-A6Z2-01A-12D-A36J-09		14910726	44218257	54	4631											
RUVBL2	10856	genome.wustl.edu	37	chr19	49513277	49513277	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagatctccaagctggGccgctccttcacacgcgccc	11	17	2	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr19:49513277G>C	ENST00000595090.1	+	8	1081	c.617G>C	c.(616-618)gGc>gCc	p.G206A	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G161A|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G161A	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	206					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCCAAGCTGGGCCGCTCCTTC	0.657																																																	0								ENSG00000183207						59	61	61					19																	49513277		2035	4157	6192	RUVBL2	SO:0001583	missense	0			-	HGNC	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.617G>C	19.37:g.49513277G>C	ENSP00000473172:p.Gly206Ala	Somatic	0	47	0		0.74661848012032	31	85.84	188	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	15	54.55	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP							pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.G206A	ENST00000595090.1	37	c.617	CCDS42588.1	19	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739523	0.89573	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.73897	-0.79	4.2	4.2	0.49525	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	H	0.99026	4.405	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	0.94481	0.7693	10	0.87932	D	0	-32.8075	14.4287	0.67233	0.0:0.0:1.0:0.0	.	206;206;172	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	A	206;161	ENSP00000413890:G161A	ENSP00000221413:G206A	G	+	2	0	RUVBL2	54205089	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.469000	0.90395	2.346000	0.79739	0.655000	0.94253	GGC	-	pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA		0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	protein_coding	OTTHUMT00000466235.1	G		-		49513277	1	no_errors	ENST00000595090	ensembl	human	known	74_37	missense	SNP	1.000	C	C	49513277	G	C	49513277	3	2	82	1	0	0	0	0	1	0	0	0	13761	1203	42	4	647	4	RUVBL2	19	49513277	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	34602551	49513277	9615706	55	4632											
LAMA5	3911	genome.wustl.edu	37	chr20	60908645	60908645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccttcggcctccacaCgcagggcccaggtgccaggg	13	18	0	0	rs563915762	byFrequency	TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr20:60908645C>T	ENST00000252999.3	-	24	3062	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	999	Domain IV 1 (domain IV B).				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)			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)			GGCCTCCACACGCAGGGCCCA	0.706													a|||	2	0.000399361	8e-04	0.0014	5008	,	,		9933	0		0	False		,,,				2504	0																0								ENSG00000130702						10	11	10					20																	60908645		2170	4270	6440	LAMA5	SO:0001583	missense	0			-	HGNC	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.2996G>A	20.37:g.60908645C>T	ENSP00000252999:p.Arg999His	Somatic	0	12	0		0.74661848012032	22	43.59	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R999H	ENST00000252999.3	37	c.2996	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	a	11.93	1.785289	0.31593	.	.	ENSG00000130702	ENST00000252999	T	0.18657	2.2	4.26	4.26	0.50523	.	0.368950	0.27193	N	0.020484	T	0.11623	0.0283	N	0.08118	0	0.22240	N	0.999266	B	0.14012	0.009	B	0.04013	0.001	T	0.21042	-1.0257	10	0.66056	D	0.02	.	10.9037	0.47067	0.8418:0.1582:0.0:0.0	.	999	O15230	LAMA5_HUMAN	H	999	ENSP00000252999:R999H	ENSP00000252999:R999H	R	-	2	0	LAMA5	60342040	0.545000	0.26449	0.891000	0.34965	0.206000	0.24218	3.636000	0.54317	0.500000	0.27991	-0.374000	0.07098	CGT	-	NULL		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	C	NM_005560	-		60908645	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	SNP	0.078	T	T	60908645	C	T	60908645	3	4	82	1	0	0	0	0	1	0	0	0	8611	536	19	1	8319	1	LAMA5	20	60908645	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		60908645	2116875	56	4633											
HSF2BP	11077	genome.wustl.edu	37	chr21	44949799	44949799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttccagaaccacagaCtggacaagcctcagtacatg	9	12	2	2			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chr21:44949799C>A	ENST00000291560.2	-	9	1171	c.840G>T	c.(838-840)caG>caT	p.Q280H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.Q205H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	280					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GAACCACAGACTGGACAAGCC	0.488																																																	0								ENSG00000160207						52	52	52					21																	44949799		2203	4300	6503	HSF2BP	SO:0001583	missense	0			-	HGNC	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.840G>T	21.37:g.44949799C>A	ENSP00000291560:p.Gln280His	Somatic	0	53	0		0.74661848012032	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	91	21.55	B4DX36	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.Q280H	ENST00000291560.2	37	c.840	CCDS13697.1	21	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627740	0.66901	.	.	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.68765	-0.35;0.81	5.57	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.76328	2.33	0.58432	D	0.999994	D	0.76494	0.999	D	0.85130	0.997	T	0.82196	-0.0577	10	0.72032	D	0.01	-12.4764	13.5232	0.61580	0.0:0.9242:0.0:0.0758	.	280	O75031	HSF2B_HUMAN	H	280;205	ENSP00000291560:Q280H;ENSP00000443367:Q205H	ENSP00000291560:Q280H	Q	-	3	2	HSF2BP	43774227	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	1.412000	0.34714	2.633000	0.89246	0.563000	0.77884	CAG	-	superfamily_ARM-type_fold		0.488	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	protein_coding	OTTHUMT00000195620.1	C	NM_007031	-		44949799	-1	no_errors	ENST00000291560	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44949799	C	A	44949799	3	1	82	1	0	0	0	0	1	0	0	0	7399	564	20	3	168	3	HSF2BP	21	44949799	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		44949799	3180096	57	4634											
FUNDC1	139341	genome.wustl.edu	37	chrX	44397736	44397736	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaagaaagccaccacCtactgcagttgctgcaagtt	9	10	0	3			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chrX:44397736C>G	ENST00000378045.4	-	3	406	c.238G>C	c.(238-240)Ggt>Cgt	p.G80R	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	80					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AAGCCACCACCTACTGCAGTT	0.373																																																	0								ENSG00000069509						112	95	101					X																	44397736		2203	4300	6503	FUNDC1	SO:0001583	missense	0			-	HGNC	BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.238G>C	X.37:g.44397736C>G	ENSP00000367284:p.Gly80Arg	Somatic	0	112	0		0.74661848012032	12	76.92	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	108	31.01		Missense_Mutation	SNP							pfam_FUN14	p.G80R	ENST00000378045.4	37	c.238	CCDS14263.1	X	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463475	0.84425	.	.	ENSG00000069509	ENST00000378045	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.90821	0.4709	9	0.87932	D	0	-13.4024	17.8993	0.88898	0.0:1.0:0.0:0.0	.	80	Q8IVP5	FUND1_HUMAN	R	80	.	ENSP00000367284:G80R	G	-	1	0	FUNDC1	44282680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.878000	0.75567	2.246000	0.74042	0.596000	0.82720	GGT	-	pfam_FUN14		0.373	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC1	protein_coding	OTTHUMT00000056320.1	C	NM_173794	-		44397736	-1	no_errors	ENST00000378045	ensembl	human	known	74_37	missense	SNP	1.000	G	G	44397736	C	G	44397736	3	3	82	1	0	0	0	0	1	0	0	0	6099	681	24	4	241	4	FUNDC1	23	44397736	Missense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09		44397736	110872824	58	4635											
DIAPH2	1730	genome.wustl.edu	37	chrX	96185820	96185820	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaggaatgaattcctccgttCaggactaaaaacaatgttac	7	8	1	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chrX:96185820C>G	ENST00000324765.8	+	10	1414	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*	DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.S356*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.S356*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.S356*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.S352*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	356	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)			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						TTCCTCCGTTCAGGACTAAAA	0.338																																																	0								ENSG00000147202						75	67	70					X																	96185820		2203	4299	6502	DIAPH2	SO:0001587	stop_gained	0			-	HGNC	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.1067C>G	X.37:g.96185820C>G	ENSP00000321348:p.Ser356*	Somatic	0	65	0		0.74661848012032	57	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	95	32.62	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.S356*	ENST00000324765.8	37	c.1067	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.964506	0.99019	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	4.91	4.02	0.46733	.	0.158745	0.40222	N	0.001155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.6849	0.62511	0.0:0.4812:0.5188:0.0	.	.	.	.	X	356;352;356;356;356;363	.	ENSP00000321348:S356X	S	+	2	0	DIAPH2	96072476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.327000	0.59247	0.955000	0.37878	0.591000	0.81541	TCA	-	pfam_FH3_dom,superfamily_ARM-type_fold		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309	-		96185820	1	no_errors	ENST00000324765	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	96185820	C	G	96185820	4	3	82	1	0	0	0	0	0	1	0	0	4521	838	29	4	1105	4	DIAPH2	23	96185820	Nonsense_Mutation	SNP	C	TCGA-DX-A6Z2-01A-12D-A36J-09	51788084	96185820	59084740	59	4636											
CUL4B	8450	genome.wustl.edu	37	chrX	119691849	119691849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccactgcttctttcagtTtttgccaggtttcatctgtg	7	11	4	0			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chrX:119691849T>G	ENST00000404115.3	-	4	1057	c.656A>C	c.(655-657)aAa>aCa	p.K219T	CUL4B_ENST00000336592.6_Missense_Mutation_p.K206T|CUL4B_ENST00000371322.5_Missense_Mutation_p.K201T	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	219					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCAGTTTTTGCCAGGT	0.338																																																	0								ENSG00000158290						185	154	165					X																	119691849		2203	4299	6502	CUL4B	SO:0001583	missense	0			-	HGNC	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.656A>C	X.37:g.119691849T>G	ENSP00000384109:p.Lys219Thr	Somatic	0	30	0		0.74661848012032	53	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K219T	ENST00000404115.3	37	c.656	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020938	0.75275	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.54	5.54	0.83059	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.043692	0.85682	D	0.000000	D	0.82393	0.5027	L	0.58810	1.83	0.80722	D	1	D;D	0.62365	0.991;0.989	D;D	0.68039	0.955;0.925	T	0.82295	-0.0528	9	.	.	.	-17.698	13.7592	0.62954	0.0:0.0:0.0:1.0	.	219;201	Q13620;Q13620-1	CUL4B_HUMAN;.	T	201;206;219;23	ENSP00000360373:K201T;ENSP00000338919:K206T;ENSP00000384109:K219T;ENSP00000360374:K23T	.	K	-	2	0	CUL4B	119575877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	1.846000	0.53633	0.477000	0.44152	AAA	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.338	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	protein_coding	OTTHUMT00000058103.1	T	NM_003588	-		119691849	-1	no_errors	ENST00000404115	ensembl	human	known	74_37	missense	SNP	1.000	G	G	119691849	T	G	119691849	3	3	82	1	0	0	0	0	1	0	0	0	4060	1841	64	5	2161	5	CUL4B	23	119691849	Missense_Mutation	SNP	T	TCGA-DX-A6Z2-01A-12D-A36J-09	23506029	119691849	35578711	60	4637											
FMR1	2332	genome.wustl.edu	37	chrX	147018109	147018109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaggattgaggctgaaaatGagaaaaatgttccacaagaa	11	4	0	5			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chrX:147018109G>A	ENST00000370475.4	+	10	1095	c.967G>A	c.(967-969)Gag>Aag	p.E323K	FMR1_ENST00000370470.1_Missense_Mutation_p.E323K|FMR1_ENST00000218200.8_Missense_Mutation_p.E323K|FMR1_ENST00000439526.2_Missense_Mutation_p.E321K|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370477.1_Missense_Mutation_p.E323K|FMR1_ENST00000370471.3_Missense_Mutation_p.E323K	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	323					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGAAAATGAGAAAAATGT	0.348									Fragile X syndrome																																								0								ENSG00000102081						136	126	129					X																	147018109		2203	4300	6503	FMR1	SO:0001583	missense	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	-	HGNC	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.967G>A	X.37:g.147018109G>A	ENSP00000359506:p.Glu323Lys	Somatic	0	112	0		0.74661848012032	7	91.46	75	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	127	31.75	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP							pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.E323K	ENST00000370475.4	37	c.967	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754960	0.89843	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470	T;T;T;T;T;T	0.63417	1.05;-0.04;1.09;-0.04;1.09;-0.04	5.53	5.53	0.82687	K Homology (1);K Homology, type 1 (1);	0.178539	0.64402	D	0.000016	T	0.67230	0.2871	L	0.41492	1.28	0.80722	D	1	B;P;P;P	0.39903	0.436;0.609;0.694;0.51	B;P;B;B	0.50378	0.307;0.639;0.189;0.142	T	0.67480	-0.5660	10	0.51188	T	0.08	-22.5075	17.6095	0.88048	0.0:0.0:1.0:0.0	.	323;239;323;321	Q06787;Q59GC1;Q06787-8;G3V0J0	FMR1_HUMAN;.;.;.	K	323;323;323;323;321;323	ENSP00000218200:E323K;ENSP00000359502:E323K;ENSP00000359508:E323K;ENSP00000359506:E323K;ENSP00000395923:E321K;ENSP00000359501:E323K	ENSP00000218200:E323K	E	+	1	0	FMR1	146825801	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.970000	0.88000	2.462000	0.83206	0.529000	0.55759	GAG	-	smart_KH_dom,pfscan_KH_dom_type_1		0.348	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	protein_coding	OTTHUMT00000058655.1	G	NM_002024	-		147018109	1	no_errors	ENST00000370475	ensembl	human	known	74_37	missense	SNP	1.000	A	A	147018109	G	A	147018109	3	1	82	1	0	0	0	0	1	0	0	0	5962	1291	45	2	1005	2	FMR1	23	147018109	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	27326260	147018109	8252451	61	4638											
SPRY3	10251	genome.wustl.edu	37	chrX	155003891	155003891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaacccaacctggagcaGgggtccacccaaaggctgat	11	14	0	1			TCGA-DX-A6Z2-01A-12D-A36J-09	TCGA-DX-A6Z2-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4035ea7d-e77b-4637-afb9-5be5411d0a38	4269113e-908e-4959-b1f2-6cfd8a779d59	g.chrX:155003891G>A	ENST00000302805.2	+	2	789	c.358G>A	c.(358-360)Ggg>Agg	p.G120R		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	120					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						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)					ACCTGGAGCAGGGGTCCACCC	0.562																																																	0								ENSG00000168939						96	97	97					X																	155003891		2203	4296	6499	SPRY3	SO:0001583	missense	0			-	HGNC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.358G>A	X.37:g.155003891G>A	ENSP00000302978:p.Gly120Arg	Somatic	0	57	0		0.74661848012032	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	51	42.70	A8K0H8	Missense_Mutation	SNP							pfam_Sprouty	p.G120R	ENST00000302805.2	37	c.358	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975533	0.18736	.	.	ENSG00000168939	ENST00000302805	T	0.54071	0.59	3.05	3.05	0.35203	.	0.141221	0.47093	D	0.000252	T	0.60818	0.2298	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.51036	-0.8756	9	0.16896	T	0.51	-7.6868	11.2005	0.48739	0.0:0.0:1.0:0.0	.	120	O43610	SPY3_HUMAN	R	120	ENSP00000302978:G120R	ENSP00000302978:G120R	G	+	1	0	SPRY3	154657085	0.999000	0.42202	0.997000	0.53966	0.538000	0.34931	4.980000	0.63812	1.552000	0.49463	0.279000	0.19357	GGG	-	NULL		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	protein_coding	OTTHUMT00000058823.2	G	NM_005840	-		155003891	1	no_errors	ENST00000302805	ensembl	human	known	74_37	missense	SNP	0.387	A	A	155003891	G	A	155003891	3	1	82	1	0	0	0	0	1	0	0	0	15114	1000	35	2	360	2	SPRY3	23	155003891	Missense_Mutation	SNP	G	TCGA-DX-A6Z2-01A-12D-A36J-09	7985782	155003891	266669	62	4639											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12887523	12887523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgttcttgagccaaagttCtacaaacacagtcaagggct	8	11	3	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:12887523C>T	ENST00000535591.1	-	3	529	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	112					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						AGCCAAAGTTCTACAAACACA	0.498																																																	0								ENSG00000204513																																			PRAMEF11	SO:0001583	missense	0			-	HGNC	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.334G>A	1.37:g.12887523C>T	ENSP00000439551:p.Glu112Lys	Somatic	0	240	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	83	46.10		Missense_Mutation	SNP							NULL	p.E112K	ENST00000535591.1	37	c.334	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397443	0.25205	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14022	2.54;2.54	1.48	1.48	0.22813	.	0.522608	0.16108	N	0.229234	T	0.11239	0.0274	L	0.45352	1.415	0.09310	N	1	B	0.27679	0.185	B	0.27380	0.079	T	0.21518	-1.0243	10	0.87932	D	0	.	6.4564	0.21932	0.0:1.0:0.0:0.0	.	112	O60813	PRA11_HUMAN	K	112;153;112	ENSP00000439551:E112K;ENSP00000391839:E112K	ENSP00000328783:E153K	E	-	1	0	PRAMEF11	12810110	0.000000	0.05858	0.018000	0.16275	0.012000	0.07955	0.131000	0.15870	1.137000	0.42214	0.400000	0.26472	GAA	-	NULL		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	protein_coding		C	XM_496341	-		12887523	-1	no_errors	ENST00000535591	ensembl	human	known	74_37	missense	SNP	0.020	T	T	12887523	C	T	12887523	3	4	83	1	0	0	0	0	1	0	0	0	12432	922	32	2	984	2	PRAMEF11	1	12887523	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09		12887523	236363098	1	4640											
JUN	3725	genome.wustl.edu	37	chr1	59248443	59248443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatctgtcacgttcttGgggcacaggaactgggtggg	15	9	4	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:59248443G>A	ENST00000371222.2	-	1	1342	c.300C>T	c.(298-300)ccC>ccT	p.P100P	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	100					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TCACGTTCTTGGGGCACAGGA	0.672			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0								ENSG00000177606						75	82	80					1																	59248443		2203	4297	6500	JUN	SO:0001819	synonymous_variant	0			-	HGNC	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.300C>T	1.37:g.59248443G>A		Somatic	0	43	0		0.623049900416291	2023	13.57	321	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	119	10.53	Q6FHM7|Q96G93	Silent	SNP							pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.P100	ENST00000371222.2	37	c.300	CCDS610.1	1																																																																																			-	pfam_JNK		0.672	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	protein_coding	OTTHUMT00000023042.1	G	NM_002228	-		59248443	-1	no_errors	ENST00000371222	ensembl	human	known	74_37	silent	SNP	1.000	A	A	59248443	G	A	59248443	2	1	83	1	0	0	0	0	0	0	0	1	7971	1335	47	2		2	JUN	1	59248443	Silent	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	46360920	59248443	190002178	2	4641											
HOOK1	51361	genome.wustl.edu	37	chr1	60314110	60314110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccaacatgatgtatatGcataatacagtcagcttaga	7	7	1	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:60314110G>C	ENST00000371208.3	+	11	1310	c.1053G>C	c.(1051-1053)atG>atC	p.M351I	HOOK1_ENST00000395561.2_Missense_Mutation_p.M309I|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	351	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGATGTATATGCATAATACAG	0.348																																																	0								ENSG00000134709						85	85	85					1																	60314110		2203	4300	6503	HOOK1	SO:0001583	missense	0			-	HGNC	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1053G>C	1.37:g.60314110G>C	ENSP00000360252:p.Met351Ile	Somatic	0	55	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP							pfam_Hook-related_fam,superfamily_Prefoldin	p.M351I	ENST00000371208.3	37	c.1053	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883153	0.91740	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.18016	2.24;2.24	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	L	0.58428	1.81	0.80722	D	1	P	0.51933	0.949	P	0.58331	0.837	T	0.00385	-1.1773	10	0.24483	T	0.36	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	351	Q9UJC3	HOOK1_HUMAN	I	351;309	ENSP00000360252:M351I;ENSP00000378928:M309I	ENSP00000360252:M351I	M	+	3	0	HOOK1	60086698	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.805000	0.96524	0.460000	0.39030	ATG	-	pfam_Hook-related_fam		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	protein_coding	OTTHUMT00000024934.1	G	NM_015888	-		60314110	1	no_errors	ENST00000371208	ensembl	human	known	74_37	missense	SNP	1.000	C	C	60314110	G	C	60314110	3	2	83	1	0	0	0	0	1	0	0	0	7284	1319	46	4	1095	4	HOOK1	1	60314110	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	1065667	60314110	188936511	3	4642											
ABCA4	24	genome.wustl.edu	37	chr1	94463415	94463415	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccccagggccaacttGcctggtccagtgtggtctgt	14	13	1	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:94463415G>T	ENST00000370225.3	-	48	6816		c.e48+1		ABCA4_ENST00000536513.1_Splice_Site|ABCA4_ENST00000535881.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						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)		GGGCCAACTTGCCTGGTCCAG	0.567																																																	0								ENSG00000198691						105	88	94					1																	94463415		2203	4300	6503	ABCA4	SO:0001630	splice_region_variant	0			-	HGNC	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.6729+1C>A	1.37:g.94463415G>T		Somatic	0	40	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP							-	e48+2	ENST00000370225.3	37	c.6729+2	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948479	0.53186	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.39	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4966	0.07657	0.3664:0.0:0.6336:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA4	94236003	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	4.651000	0.61447	2.523000	0.85059	0.563000	0.77884	.	-	-		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	G	NM_000350	-	Intron	94463415	-1	no_errors	ENST00000370225	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	94463415	G	T	94463415	5	4	83	1	0	0	0	0	0	0	1	0	34	1333	46	3	102	3	ABCA4	1	94463415	Splice_Site	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	34149305	94463415	154787206	4	4643											
SYPL2	284612	genome.wustl.edu	37	chr1	110019410	110019410	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcaggttgcaccggatCcaatatgagatgcccctctg	10	13	1	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:110019410C>T	ENST00000369872.3	+	4	483	c.267C>T	c.(265-267)atC>atT	p.I89I	SYPL2_ENST00000401021.3_Silent_p.I89I|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	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)	p.I89I(2)		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)		TGCACCGGATCCAATATGAGA	0.592																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000143028						56	60	59					1																	110019410		2031	4184	6215	SYPL2	SO:0001819	synonymous_variant	0			-	HGNC	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.267C>T	1.37:g.110019410C>T		Somatic	0	18	0		0.623049900416291	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP							pfam_Marvel,prints_Synaptophysin/porin	p.I89	ENST00000369872.3	37	c.267	CCDS41365.1	1																																																																																			-	pfam_Marvel		0.592	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYPL2	protein_coding	OTTHUMT00000030191.1	C	NM_001006603	-		110019410	1	no_errors	ENST00000369872	ensembl	human	known	74_37	silent	SNP	0.927	T	T	110019410	C	T	110019410	2	4	83	1	0	0	0	0	0	0	0	1	15470	845	30	2		2	SYPL2	1	110019410	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	15555995	110019410	139231211	5	4644											
ANKRD35	148741	genome.wustl.edu	37	chr1	145558228	145558228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtgctaatgaagatgcTgtggatgcagaaaaccgtag	13	6	0	3			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:145558228T>C	ENST00000355594.4	+	5	432	c.345T>C	c.(343-345)gcT>gcC	p.A115A	ANKRD35_ENST00000544626.1_Intron	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	115										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAAGATGCTGTGGATGCAG	0.537																																					Melanoma(9;127 754 22988 51047)												0								ENSG00000198483						118	105	109					1																	145558228		2203	4300	6503	ANKRD35	SO:0001819	synonymous_variant	0			-	HGNC	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.345T>C	1.37:g.145558228T>C		Somatic	0	35	0		0.623049900416291	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A115	ENST00000355594.4	37	c.345	CCDS919.1	1																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.537	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	protein_coding	OTTHUMT00000038515.1	T	NM_144698	-		145558228	1	no_errors	ENST00000355594	ensembl	human	known	74_37	silent	SNP	0.998	C	C	145558228	T	C	145558228	2	2	83	1	0	0	0	0	0	0	0	1	664	1567	55	5		5	ANKRD35	1	145558228	Silent	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09	35538818	145558228	103692393	6	4645											
IGFN1	91156	genome.wustl.edu	37	chr1	201181230	201181230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgacacgaactccaaGgatggtccagagcgagccag	15	10	0	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr1:201181230G>T	ENST00000335211.4	+	12	7339	c.7209G>T	c.(7207-7209)aaG>aaT	p.K2403N	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGAACTCCAAGGATGGTCCAG	0.592																																																	0								ENSG00000163395						31	28	29					1																	201181230		692	1591	2283	IGFN1	SO:0001583	missense	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7209G>T	1.37:g.201181230G>T	ENSP00000334714:p.Lys2403Asn	Somatic	0	28	0		0.623049900416291	35	5.41	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	6	66.67	F8WAI1|Q9NT72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K2403N	ENST00000335211.4	37	c.7209	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	13.08	2.129812	0.37630	.	.	ENSG00000163395	ENST00000335211	T	0.59224	0.28	2.73	-0.748	0.11087	.	.	.	.	.	T	0.31638	0.0803	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23440	-1.0188	6	.	.	.	.	7.3829	0.26866	0.4783:0.0:0.5217:0.0	.	.	.	.	N	2403	ENSP00000334714:K2403N	.	K	+	3	2	IGFN1	199447853	0.001000	0.12720	0.000000	0.03702	0.082000	0.17680	0.348000	0.20031	-0.112000	0.11979	0.298000	0.19748	AAG	-	NULL		0.592	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		G	NM_178275	-		201181230	1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	0.000	T	T	201181230	G	T	201181230	3	4	83	1	0	0	0	0	1	0	0	0	7592	991	35	3	7251	3	IGFN1	1	201181230	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	55623002	201181230	48069391	7	4646											
RRM2	6241	genome.wustl.edu	37	chr2	10269400	10269400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgactttatggagaatAtttcactggaaggaaagact	9	5	1	3			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:10269400A>G	ENST00000304567.5	+	10	1126	c.1057A>G	c.(1057-1059)Att>Gtt	p.I353V	RRM2_ENST00000360566.2_Missense_Mutation_p.I413V	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	353					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TATGGAGAATATTTCACTGGA	0.393																																																	0								ENSG00000171848						82	81	81					2																	10269400		2203	4300	6503	RRM2	SO:0001583	missense	0			-	HGNC		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.1057A>G	2.37:g.10269400A>G	ENSP00000302955:p.Ile353Val	Somatic	0	63	0		0.623049900416291	224	47.42	202	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	47.46	B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP							pfam_RNR_small,superfamily_Ferritin-like_SF	p.I413V	ENST00000304567.5	37	c.1237	CCDS1669.1	2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.710146	0.68730	.	.	ENSG00000171848	ENST00000360566;ENST00000304567	D;D	0.97731	-4.51;-4.51	5.67	5.67	0.87782	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.92738	3.34	0.80722	D	1	B	0.18863	0.031	B	0.17433	0.018	D	0.96612	0.9453	10	0.87932	D	0	-21.2513	15.92	0.79556	1.0:0.0:0.0:0.0	.	353	P31350	RIR2_HUMAN	V	413;353	ENSP00000353770:I413V;ENSP00000302955:I353V	ENSP00000302955:I353V	I	+	1	0	RRM2	10186851	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.110000	0.94302	2.159000	0.67721	0.455000	0.32223	ATT	-	superfamily_Ferritin-like_SF		0.393	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2	protein_coding	OTTHUMT00000364902.2	A		-		10269400	1	no_errors	ENST00000360566	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10269400	A	G	10269400	3	3	83	1	0	0	0	0	1	0	0	0	13690	449	16	5	1275	5	RRM2	2	10269400	Missense_Mutation	SNP	A	TCGA-DX-A7EF-01A-11D-A33E-09		10269400	232929973	8	4647											
ABCG5	64240	genome.wustl.edu	37	chr2	44041643	44041643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaattcagtccgtagaactCattgactacaagaatctcac	6	10	3	3			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:44041643C>T	ENST00000260645.1	-	12	1874	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	ABCG5_ENST00000405322.1_Missense_Mutation_p.E408K|ABCG5_ENST00000543989.1_Missense_Mutation_p.E184K	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	579	ABC transmembrane type-2.				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)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|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)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCGTAGAACTCATTGACTACA	0.308																																																	0								ENSG00000138075						77	78	77					2																	44041643		2202	4295	6497	ABCG5	SO:0001583	missense	0			-	HGNC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1735G>A	2.37:g.44041643C>T	ENSP00000260645:p.Glu579Lys	Somatic	0	149	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	130	23.98	Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E579K	ENST00000260645.1	37	c.1735	CCDS1814.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.074191	0.94000	.	.	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	T;T;T	0.74002	-0.8;-0.8;-0.8	5.09	5.09	0.68999	ABC-2 type transporter (1);	0.719989	0.12710	N	0.445600	D	0.86981	0.6064	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.86395	0.1738	10	0.66056	D	0.02	.	18.2993	0.90158	0.0:1.0:0.0:0.0	.	408;579	E7EX35;Q9H222	.;ABCG5_HUMAN	K	579;408;184	ENSP00000260645:E579K;ENSP00000384513:E408K;ENSP00000445107:E184K	ENSP00000260645:E579K	E	-	1	0	ABCG5	43895147	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.683000	0.74533	2.639000	0.89480	0.557000	0.71058	GAG	-	pfam_ABC_2_trans		0.308	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	protein_coding	OTTHUMT00000250675.1	C	NM_022436	-		44041643	-1	no_errors	ENST00000260645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44041643	C	T	44041643	3	4	83	1	0	0	0	0	1	0	0	0	71	835	29	2	228	2	ABCG5	2	44041643	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	33772243	44041643	199157730	9	4648											
ALMS1	7840	genome.wustl.edu	37	chr2	73827825	73827825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaacttggagattgtgaacGgtgccaaaaaacacactcga	10	8	0	2	rs187887110		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:73827825G>A	ENST00000264448.6	+	18	11797	c.11686G>A	c.(11686-11688)Ggt>Agt	p.G3896S	ALMS1_ENST00000409009.1_Missense_Mutation_p.G3854S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3896					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						GATTGTGAACGGTGCCAAAAA	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		19532	0		0	False		,,,				2504	0																0								ENSG00000116127	G	SER/GLY	2,4152		0,2,2075	61	61	61		11686	4.2	0.2	2		61	0,8478		0,0,4239	no	missense	ALMS1	NM_015120.4	56	0,2,6314	AA,AG,GG		0.0,0.0481,0.0158	probably-damaging	3896/4168	73827825	2,12630	2077	4239	6316	ALMS1	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.11686G>A	2.37:g.73827825G>A	ENSP00000264448:p.Gly3896Ser	Somatic	0	95	0		0.623049900416291	2	90.91	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	7	84.09	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP							NULL	p.G3896S	ENST00000264448.6	37	c.11686	CCDS42697.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.43	3.621324	0.66787	4.81E-4	0.0	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06849	3.26;3.25	5.2	4.25	0.50352	.	0.214042	0.33477	N	0.004873	T	0.16385	0.0394	L	0.46157	1.445	0.26659	N	0.971945	D;D	0.76494	0.999;0.999	D;P	0.67548	0.952;0.903	T	0.03761	-1.1006	10	0.46703	T	0.11	.	6.224	0.20698	0.1932:0.0:0.8068:0.0	.	3854;3896	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	S	3854;3896	ENSP00000386627:G3854S;ENSP00000264448:G3896S	ENSP00000264448:G3896S	G	+	1	0	ALMS1	73681333	0.990000	0.36364	0.232000	0.24009	0.820000	0.46376	2.265000	0.43311	2.718000	0.92993	0.650000	0.86243	GGT	-	NULL		0.458	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	G	NM_015120	rs187887110		73827825	1	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	SNP	0.127	A	A	73827825	G	A	73827825	3	1	83	1	0	0	0	0	1	0	0	0	535	1116	39	1	11756	1	ALMS1	2	73827825	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	29786182	73827825	169371548	10	4649											
EIF2AK3	9451	genome.wustl.edu	37	chr2	88885426	88885426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgatacaaaacaaaatcGttgcaactatttctttccac	3	10	1	1	rs200171164		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:88885426G>A	ENST00000303236.3	-	9	1884	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.T377M	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	528					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AAACAAAATCGTTGCAACTAT	0.408																																					GBM(138;671 1851 16235 39058 45249)												0								ENSG00000172071						223	202	209					2																	88885426		2203	4300	6503	EIF2AK3	SO:0001583	missense	0			-	HGNC	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1583C>T	2.37:g.88885426G>A	ENSP00000307235:p.Thr528Met	Somatic	0	115	0		0.623049900416291	21	12.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	55	30.86	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T528M	ENST00000303236.3	37	c.1583	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001736	0.74932	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.50548	0.74;0.74;0.74	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.68317	2.08	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.63862	-0.6541	10	0.37606	T	0.19	-22.0537	20.3343	0.98733	0.0:0.0:1.0:0.0	.	528	Q9NZJ5	E2AK3_HUMAN	M	377;528;377;407	ENSP00000408325:T377M;ENSP00000307235:T528M;ENSP00000412076:T407M	ENSP00000307235:T528M	T	-	2	0	EIF2AK3	88666541	1.000000	0.71417	0.189000	0.23252	0.585000	0.36419	8.441000	0.90313	2.822000	0.97130	0.650000	0.86243	ACG	-	NULL		0.408	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	protein_coding	OTTHUMT00000338233.2	G	NM_004836	rs200171164		88885426	-1	no_errors	ENST00000303236	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88885426	G	A	88885426	3	1	83	1	0	0	0	0	1	0	0	0	5000	1145	40	1	1803	1	EIF2AK3	2	88885426	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	15057601	88885426	154313947	11	4650											
SLC4A10	57282	genome.wustl.edu	37	chr2	162719573	162719573	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattccatggacaaaaatgGtaaatgtttatttattgtgc	7	4	0	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:162719573G>T	ENST00000446997.1	+	6	859		c.e6+1		SLC4A10_ENST00000272716.5_Splice_Site|SLC4A10_ENST00000535165.1_Splice_Site|SLC4A10_ENST00000493021.1_Splice_Site|SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000421911.1_Splice_Site|SLC4A10_ENST00000415876.2_Splice_Site	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GACAAAAATGGTAAATGTTTA	0.323																																																	0								ENSG00000144290						68	74	72					2																	162719573		1841	4114	5955	SLC4A10	SO:0001630	splice_region_variant	0			-	HGNC		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.766+1G>T	2.37:g.162719573G>T		Somatic	0	61	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Splice_Site	SNP							-	e6+1	ENST00000446997.1	37	c.766+1	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353794	0.82243	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6853	0.95977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A10	162427819	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.751000	0.98889	2.759000	0.94783	0.591000	0.81541	.	-	-		0.323	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	protein_coding	OTTHUMT00000333090.1	G	NM_022058	-	Intron	162719573	1	no_errors	ENST00000446997	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	162719573	G	T	162719573	5	4	83	1	0	0	0	0	0	0	1	0	14659	1275	44	3	874	3	SLC4A10	2	162719573	Splice_Site	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	73834147	162719573	80479800	12	4651											
ACSL3	2181	genome.wustl.edu	37	chr2	223806326	223806326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaacgcaaagagcttaAaacacattaccaggcggaca	9	10	0	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:223806326A>G	ENST00000357430.3	+	17	2648	c.2117A>G	c.(2116-2118)aAa>aGa	p.K706R	ACSL3_ENST00000392066.3_Missense_Mutation_p.K706R	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	706					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAAGAGCTTAAAACACATTAC	0.408			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0								ENSG00000123983						105	102	103					2																	223806326		2203	4300	6503	ACSL3	SO:0001583	missense	0			-	HGNC	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.2117A>G	2.37:g.223806326A>G	ENSP00000350012:p.Lys706Arg	Somatic	0	46	0		0.623049900416291	77	50.96	80	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	Q60I92|Q8IUM9	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.K706R	ENST00000357430.3	37	c.2117	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173437	0.38413	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.20200	2.09;2.09	5.94	5.94	0.96194	.	0.046320	0.85682	D	0.000000	T	0.17746	0.0426	L	0.39514	1.22	0.58432	D	0.999997	B	0.15473	0.013	B	0.19946	0.027	T	0.08371	-1.0725	10	0.13108	T	0.6	-24.4618	12.6022	0.56503	0.8242:0.1758:0.0:0.0	.	706	O95573	ACSL3_HUMAN	R	706	ENSP00000350012:K706R;ENSP00000375918:K706R	ENSP00000350012:K706R	K	+	2	0	ACSL3	223514570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.794000	0.75135	2.265000	0.75225	0.482000	0.46254	AAA	-	NULL		0.408	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	protein_coding	OTTHUMT00000256862.2	A	NM_004457	-		223806326	1	no_errors	ENST00000357430	ensembl	human	known	74_37	missense	SNP	1.000	G	G	223806326	A	G	223806326	3	3	83	1	0	0	0	0	1	0	0	0	178	14	1	5	2171	5	ACSL3	2	223806326	Missense_Mutation	SNP	A	TCGA-DX-A7EF-01A-11D-A33E-09	61086753	223806326	19393047	13	4652											
GPR55	9290	genome.wustl.edu	37	chr2	231775273	231775273	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatcccaaagatcttcctGggggaccggaggtggctcac	13	12	2	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr2:231775273G>T	ENST00000392040.1	-	2	597	c.405C>A	c.(403-405)ccC>ccA	p.P135P	GPR55_ENST00000392039.2_Silent_p.P135P|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	135					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.P135P(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGATCTTCCTGGGGGACCGGA	0.542																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000135898						51	50	51					2																	231775273		2203	4300	6503	GPR55	SO:0001819	synonymous_variant	0			-	HGNC	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.405C>A	2.37:g.231775273G>T		Somatic	0	47	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q8N580	Silent	SNP							pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P135	ENST00000392040.1	37	c.405	CCDS2480.1	2																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	protein_coding	OTTHUMT00000332618.1	G	NM_005683	-		231775273	-1	no_errors	ENST00000392039	ensembl	human	known	74_37	silent	SNP	0.948	T	T	231775273	G	T	231775273	2	4	83	1	0	0	0	0	0	0	0	1	6701	1335	47	3		3	GPR55	2	231775273	Silent	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	7968947	231775273	11424100	14	4653											
CLASP2	23122	genome.wustl.edu	37	chr3	33602411	33602411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaaccaatcttgaagatcaTctttgtggacttgtatgaaa	7	7	3	3			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr3:33602411T>A	ENST00000468888.2	-	28	2889	c.2843A>T	c.(2842-2844)gAt>gTt	p.D948V	CLASP2_ENST00000399362.4_Missense_Mutation_p.D947V|CLASP2_ENST00000539981.1_Missense_Mutation_p.D717V|CLASP2_ENST00000480013.1_Missense_Mutation_p.D727V|CLASP2_ENST00000359576.5_Missense_Mutation_p.D939V|CLASP2_ENST00000307312.7_Missense_Mutation_p.D429V|CLASP2_ENST00000461133.3_Missense_Mutation_p.D707V			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	728	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGAAGATCATCTTTGTGGAC	0.383																																																	0								ENSG00000163539						148	154	152					3																	33602411		1861	4111	5972	CLASP2	SO:0001583	missense	0			-	HGNC	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2843A>T	3.37:g.33602411T>A	ENSP00000419974:p.Asp948Val	Somatic	0	85	0		0.623049900416291	21	8.7	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	65	8.45	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP							pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D947V	ENST00000468888.2	37	c.2840		3	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338894	0.81911	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.104955	0.64402	D	0.000003	T	0.60038	0.2238	N	0.12182	0.205	0.80722	D	1	P;P;B	0.48350	0.909;0.773;0.078	P;B;B	0.50617	0.646;0.369;0.102	T	0.65857	-0.6066	10	0.51188	T	0.08	-20.1628	15.5744	0.76365	0.0:0.0:0.0:1.0	.	728;939;947	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	V	948;947;939;429;717;727;707	ENSP00000419974:D948V;ENSP00000382297:D947V;ENSP00000352581:D939V;ENSP00000304743:D429V;ENSP00000439039:D717V;ENSP00000417518:D727V;ENSP00000419305:D707V	ENSP00000304743:D429V	D	-	2	0	CLASP2	33577415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.717000	0.84732	2.086000	0.62901	0.533000	0.62120	GAT	-	superfamily_ARM-type_fold		0.383	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	protein_coding	OTTHUMT00000344320.4	T	NM_001207044	-		33602411	-1	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33602411	T	A	33602411	3	1	83	1	0	0	0	0	1	0	0	0	3457	1435	50	5	1749	5	CLASP2	3	33602411	Missense_Mutation	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09		33602411	164420019	15	4654											
OR5H14	403273	genome.wustl.edu	37	chr3	97868430	97868430	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttactccttgggaatttagcTtttgtggatgctttgttatc	9	6	0	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr3:97868430T>A	ENST00000437310.1	+	1	261	c.201T>A	c.(199-201)gcT>gcA	p.A67A	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67						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)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAATTTAGCTTTTGTGGATG	0.398																																																	0								ENSG00000236032						310	313	312					3																	97868430		2203	4300	6503	OR5H14	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.201T>A	3.37:g.97868430T>A		Somatic	0	95	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	B9EH15	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A67	ENST00000437310.1	37	c.201	CCDS33798.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H14	protein_coding	OTTHUMT00000359112.1	T		-		97868430	1	no_errors	ENST00000437310	ensembl	human	known	74_37	silent	SNP	0.000	A	A	97868430	T	A	97868430	2	1	83	1	0	0	0	0	0	0	0	1	11162	1596	56	5		5	OR5H14	3	97868430	Silent	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09	64266019	97868430	100154000	16	4655											
NLGN1	22871	genome.wustl.edu	37	chr3	173997210	173997210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagctgtagccacagcGgatcttcactcaaactttgg	9	13	3	0	rs200258151	byFrequency	TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr3:173997210G>A	ENST00000457714.1	+	6	1848	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	NLGN1_ENST00000361589.4_Silent_p.A473A|NLGN1_ENST00000401917.3_Silent_p.A513A|NLGN1_ENST00000545397.1_Silent_p.A473A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	490					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TAGCCACAGCGGATCTTCACT	0.498													G|||	2	0.000399361	0.0015	0	5008	,	,		17609	0		0	False		,,,				2504	0																0								ENSG00000169760	G		1,4405	2.1+/-5.4	0,1,2202	90	87	88		1419	4.9	1	3		88	0,8600		0,0,4300	no	coding-synonymous	NLGN1	NM_014932.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		473/824	173997210	1,13005	2203	4300	6503	NLGN1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1419G>A	3.37:g.173997210G>A		Somatic	0	44	0		0.623049900416291	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.21	Q9UPT2	Silent	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.A513	ENST00000457714.1	37	c.1539	CCDS3222.1	3																																																																																			-	pfam_CarbesteraseB		0.498	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	protein_coding	OTTHUMT00000347054.3	G	NM_014932	rs200258151		173997210	1	no_errors	ENST00000401917	ensembl	human	known	74_37	silent	SNP	1.000	A	A	173997210	G	A	173997210	2	1	83	1	0	0	0	0	0	0	0	1	10463	1103	39	1		1	NLGN1	3	173997210	Silent	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	76128780	173997210	24025220	17	4656											
PCDH7	5099	genome.wustl.edu	37	chr4	30723421	30723421	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagagctgggtggaccTgtttgagggtcaggtcatcg	16	9	2	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr4:30723421T>A	ENST00000361762.2	+	1	1385	c.377T>A	c.(376-378)cTg>cAg	p.L126Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.L126Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGGGTGGACCTGTTTGAGGGT	0.622																																																	0								ENSG00000169851						56	44	48					4																	30723421		2203	4300	6503	PCDH7	SO:0001583	missense	0			-	HGNC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.377T>A	4.37:g.30723421T>A	ENSP00000355243:p.Leu126Gln	Somatic	0	61	0		0.623049900416291	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67	O60246|O60247|Q4W5C4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L126Q	ENST00000361762.2	37	c.377	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	T	18.10	3.549501	0.65311	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.59224	0.3;0.28	5.24	5.24	0.73138	Cadherin (3);	.	.	.	.	T	0.76176	0.3951	M	0.78456	2.415	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79557	-0.1754	9	0.66056	D	0.02	.	14.8227	0.70085	0.0:0.0:0.0:1.0	.	126;126;126	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	Q	126	ENSP00000355243:L126Q;ENSP00000441802:L126Q	ENSP00000330302:L126Q	L	+	2	0	PCDH7	30332519	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.943000	0.87716	1.984000	0.57885	0.374000	0.22700	CTG	-	smart_Cadherin,pfscan_Cadherin		0.622	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	protein_coding	OTTHUMT00000360366.1	T	NM_032457, NM_002589	-		30723421	1	no_errors	ENST00000543491	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30723421	T	A	30723421	3	1	83	1	0	0	0	0	1	0	0	0	11518	1580	55	5	379	5	PCDH7	4	30723421	Missense_Mutation	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09		30723421	160430855	18	4657											
USP46	64854	genome.wustl.edu	37	chr4	53497234	53497234	+	Frame_Shift_Del	DEL	G	G	-													acattttacatacttacattGaccaatccgaaatagtgttc							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr4:53497234delG	ENST00000441222.3	-	2	298	c.114delC	c.(112-114)gtcfs	p.V38fs	USP46_ENST00000508499.1_Frame_Shift_Del_p.V31fs|USP46_ENST00000504078.1_5'Flank|USP46_ENST00000451218.2_Intron	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	38	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TACTTACATTGACCAATCCGA	0.333																																																	0								ENSG00000109189						61	55	57					4																	53497234		1841	4091	5932	USP46	SO:0001589	frameshift_variant	0				HGNC	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.114delC	4.37:g.53497234delG	ENSP00000407818:p.Val38fs	Somatic	0	38	0		0.623049900416291	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Frame_Shift_Del	DEL							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.N39fs	ENST00000441222.3	37	c.114	CCDS47053.1	4																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.333	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	protein_coding	OTTHUMT00000361516.2	G	NM_022832			53497234	-1	no_errors	ENST00000441222	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	53497234	G	-	53497234	7	5	83	1	0	1	0	1	0	0	0	0	17084	1277	45	0	1018	0	USP46	4	53497234	Frame_Shift_Del	DEL	G	TCGA-DX-A7EF-01A-11D-A33E-09	22773813	53497234	137657042	19	4658											
DAPP1	27071	genome.wustl.edu	37	chr4	100756843	100756843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctcaaatggatgtgaCggcagctaccttctgaggga	11	11	2	2	rs554960188		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr4:100756843C>T	ENST00000512369.1	+	2	233	c.165C>T	c.(163-165)gaC>gaT	p.D55D	DAPP1_ENST00000296414.7_Silent_p.D55D	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	55	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGATGTGACGGCAGCTACC	0.547																																																	0								ENSG00000070190						130	127	128					4																	100756843		2072	4203	6275	DAPP1	SO:0001819	synonymous_variant	0			-	HGNC	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.165C>T	4.37:g.100756843C>T		Somatic	0	41	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	Q8TCK5|Q9UHF2	Silent	SNP							pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.D55	ENST00000512369.1	37	c.165	CCDS47112.1	4																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.547	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	protein_coding	OTTHUMT00000363215.1	C		-		100756843	1	no_errors	ENST00000512369	ensembl	human	known	74_37	silent	SNP	0.976	T	T	100756843	C	T	100756843	2	4	83	1	0	0	0	0	0	0	0	1	4241	535	19	1		1	DAPP1	4	100756843	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	47259609	100756843	90397433	20	4659											
CCT5	22948	genome.wustl.edu	37	chr5	10261729	10261729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttctcagagctcacagccGagaagctgggctttgctggt	14	10	2	2	rs140095139	byFrequency	TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr5:10261729G>A	ENST00000280326.4	+	8	1471	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515390.1_Missense_Mutation_p.E296K|CCT5_ENST00000506600.1_Missense_Mutation_p.E258K|CCT5_ENST00000515676.1_Missense_Mutation_p.E313K|CCT5_ENST00000503026.1_Missense_Mutation_p.E330K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	351					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GCTCACAGCCGAGAAGCTGGG	0.517																																																	0								ENSG00000150753	G	LYS/GLU	0,4406		0,0,2203	170	179	176		1051	4.5	0.8	5	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCT5	NM_012073.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	351/542	10261729	2,13004	2203	4300	6503	CCT5	SO:0001583	missense	0			-	HGNC	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1051G>A	5.37:g.10261729G>A	ENSP00000280326:p.Glu351Lys	Somatic	0	56	0		0.623049900416291	869	26.54	315	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.E351K	ENST00000280326.4	37	c.1051	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792887	0.90453	0.0	2.33E-4	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.39	4.5	0.54988	.	0.045357	0.85682	D	0.000000	T	0.78792	0.4339	M	0.65320	2	0.80722	D	1	B;P;B;P;P;P	0.46457	0.232;0.878;0.335;0.839;0.839;0.839	B;P;B;B;B;B	0.45753	0.07;0.492;0.034;0.37;0.37;0.37	T	0.80148	-0.1503	10	0.52906	T	0.07	-37.331	15.0426	0.71803	0.0:0.1428:0.8572:0.0	.	258;296;200;349;351;351	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	K	351;330;296;324;313;258	ENSP00000280326:E351K;ENSP00000423318:E330K;ENSP00000426923:E296K;ENSP00000427297:E313K;ENSP00000423052:E258K	ENSP00000280326:E351K	E	+	1	0	CCT5	10314729	1.000000	0.71417	0.839000	0.33178	0.982000	0.71751	9.193000	0.94954	1.234000	0.43709	0.558000	0.71614	GAG	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi		0.517	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	protein_coding	OTTHUMT00000253688.2	G		rs140095139		10261729	1	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	SNP	0.999	A	A	10261729	G	A	10261729	3	1	83	1	0	0	0	0	1	0	0	0	2958	1059	37	1	1081	1	CCT5	5	10261729	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		10261729	170653531	21	4660											
RASA1	5921	genome.wustl.edu	37	chr5	86658444	86658444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgtaaaacaaaggatgCcttttataaaaacattgtta	6	7	0	0	rs199894378		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr5:86658444C>T	ENST00000274376.6	+	10	1973	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	RASA1_ENST00000456692.2_Missense_Mutation_p.A293V|RASA1_ENST00000512763.1_Missense_Mutation_p.A303V|RASA1_ENST00000506290.1_Missense_Mutation_p.A304V	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	470					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACAAAGGATGCCTTTTATAAA	0.318																																																	0								ENSG00000145715						79	86	83					5																	86658444		2203	4291	6494	RASA1	SO:0001583	missense	0			-	HGNC		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1409C>T	5.37:g.86658444C>T	ENSP00000274376:p.Ala470Val	Somatic	0	101	0		0.623049900416291	36	2.7	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2R6W3|Q9UDI1	Missense_Mutation	SNP							pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.A470V	ENST00000274376.6	37	c.1409	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625523	0.87560	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.28	5.28	0.74379	.	0.099626	0.64402	D	0.000002	T	0.16300	0.0392	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B	0.31837	0.192;0.342;0.192;0.124;0.192	B;B;B;B;B	0.25506	0.038;0.039;0.028;0.061;0.041	T	0.02596	-1.1136	10	0.33940	T	0.23	.	19.2595	0.93962	0.0:1.0:0.0:0.0	.	304;303;304;293;470	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	V	470;503;293;303;304	ENSP00000274376:A470V;ENSP00000411221:A293V;ENSP00000422008:A303V;ENSP00000420905:A304V	ENSP00000274376:A470V	A	+	2	0	RASA1	86694200	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.964000	0.70379	2.614000	0.88457	0.455000	0.32223	GCC	-	NULL		0.318	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	protein_coding	OTTHUMT00000369729.1	C	NM_002890	-		86658444	1	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86658444	C	T	86658444	3	4	83	1	0	0	0	0	1	0	0	0	13068	739	26	2	1459	2	RASA1	5	86658444	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	76396715	86658444	94256816	22	4661											
WWC1	23286	genome.wustl.edu	37	chr5	167894900	167894900	+	Frame_Shift_Del	DEL	C	C	-													gacagacaagatgatgagggCagctgccaaggatgtgcaca							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr5:167894900delC	ENST00000265293.4	+	22	3708	c.3206delC	c.(3205-3207)gcafs	p.A1071fs	WWC1_ENST00000521089.1_Frame_Shift_Del_p.A1077fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1071	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATGATGAGGGCAGCTGCCAAG	0.612																																																	0								ENSG00000113645						80	78	79					5																	167894900		2203	4300	6503	WWC1	SO:0001589	frameshift_variant	0				HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3206delC	5.37:g.167894900delC	ENSP00000265293:p.Ala1071fs	Somatic	0	49	0		0.623049900416291	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Frame_Shift_Del	DEL							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A1069fs	ENST00000265293.4	37	c.3206	CCDS4366.1	5																																																																																			-	NULL		0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	C	NM_015238			167894900	1	no_errors	ENST00000265293	ensembl	human	known	74_37	frame_shift_del	DEL	0.970	-	-	167894900	C	-	167894900	7	5	83	1	0	1	0	1	0	0	0	0	17418	710	25	0	3310	0	WWC1	5	167894900	Frame_Shift_Del	DEL	C	TCGA-DX-A7EF-01A-11D-A33E-09	81236456	167894900	13020360	23	4662											
ZNF76	7629	genome.wustl.edu	37	chr6	35262984	35262984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggccatgcagcaagggGctgtgaccctggagacaaca	14	12	0	2	rs73409749	byFrequency	TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr6:35262984G>A	ENST00000373953.3	+	14	1938	c.1672G>A	c.(1672-1674)Gct>Act	p.A558T	ZNF76_ENST00000440666.2_Missense_Mutation_p.A532T|DEF6_ENST00000542066.1_5'Flank|DEF6_ENST00000316637.5_5'Flank|ZNF76_ENST00000339411.5_Missense_Mutation_p.A503T	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	558					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCAGCAAGGGGCTGTGACCCT	0.602																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0								ENSG00000065029						65	51	56					6																	35262984		2203	4300	6503	ZNF76	SO:0001583	missense	0			-	HGNC	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1672G>A	6.37:g.35262984G>A	ENSP00000363064:p.Ala558Thr	Somatic	0	48	0		0.623049900416291	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q9BQB2	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A558T	ENST00000373953.3	37	c.1672	CCDS4801.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.088574|3.088574	0.55968|0.55968	.|.	.|.	ENSG00000065029|ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411|ENST00000448999;ENST00000417184	T;T;T|.	0.10477|.	2.95;2.95;2.87|.	5.91|5.91	-0.613|-0.613	0.11594|0.11594	.|.	0.319821|.	0.22584|.	N|.	0.058165|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.22421|0.22421	0.69|0.69	0.32725|0.32725	N|N	0.509737|0.509737	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.09552|0.09552	-1.0669|-1.0669	10|6	0.32370|0.54805	T|T	0.25|0.06	.|.	5.4369|5.4369	0.16486|0.16486	0.4237:0.1918:0.3844:0.0|0.4237:0.1918:0.3844:0.0	.|.	503;558|.	P36508-2;P36508|.	.;ZNF76_HUMAN|.	T|D	558;532;503|349;375	ENSP00000363064:A558T;ENSP00000392243:A532T;ENSP00000344097:A503T|.	ENSP00000344097:A503T|ENSP00000410765:G375D	A|G	+|+	1|2	0|0	ZNF76|ZNF76	35370962|35370962	0.100000|0.100000	0.21855|0.21855	0.549000|0.549000	0.28204|0.28204	0.952000|0.952000	0.60782|0.60782	-0.176000|-0.176000	0.09811|0.09811	-0.129000|-0.129000	0.11620|0.11620	0.655000|0.655000	0.94253|0.94253	GCT|GGC	-	NULL		0.602	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	protein_coding	OTTHUMT00000040279.2	G	NM_003427	-		35262984	1	no_errors	ENST00000373953	ensembl	human	known	74_37	missense	SNP	0.953	A	A	35262984	G	A	35262984	3	1	83	1	0	0	0	0	1	0	0	0	18142	1203	42	2	1722	2	ZNF76	6	35262984	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		35262984	135852083	24	4663											
TBC1D22B	55633	genome.wustl.edu	37	chr6	37247153	37247153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccagttttcatgagtttGcacggaataccagtgatgct	9	10	1	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr6:37247153G>T	ENST00000373491.3	+	3	333	c.187G>T	c.(187-189)Gca>Tca	p.A63S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	63							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TCATGAGTTTGCACGGAATAC	0.418																																																	0								ENSG00000065491						151	142	145					6																	37247153		2203	4300	6503	TBC1D22B	SO:0001583	missense	0			-	HGNC	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.187G>T	6.37:g.37247153G>T	ENSP00000362590:p.Ala63Ser	Somatic	0	62	0		0.623049900416291	11	38.89	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A63S	ENST00000373491.3	37	c.187	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983741	0.74474	.	.	ENSG00000065491	ENST00000373491	D	0.88431	-2.38	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.62723	1.935	0.80722	D	1	B	0.32051	0.354	B	0.29353	0.101	T	0.80612	-0.1305	10	0.21540	T	0.41	.	18.6505	0.91429	0.0:0.0:1.0:0.0	.	63	Q9NU19	TB22B_HUMAN	S	63	ENSP00000362590:A63S	ENSP00000362590:A63S	A	+	1	0	TBC1D22B	37355131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.766000	0.95052	0.655000	0.94253	GCA	-	NULL		0.418	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	protein_coding	OTTHUMT00000040402.1	G	NM_017772	-		37247153	1	no_errors	ENST00000373491	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37247153	G	T	37247153	3	4	83	1	0	0	0	0	1	0	0	0	15619	1319	46	3	197	3	TBC1D22B	6	37247153	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	1984169	37247153	133867914	25	4664											
COL19A1	1310	genome.wustl.edu	37	chr6	70909399	70909399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgggccaccagggaAggatgggttgcctgggccac	17	11	0	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr6:70909399A>C	ENST00000322773.4	+	49	3284	c.3182A>C	c.(3181-3183)aAg>aCg	p.K1061T	COL19A1_ENST00000393344.1_Missense_Mutation_p.K683T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1061	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCACCAGGGAAGGATGGGTTG	0.488																																																	0								ENSG00000082293						67	71	69					6																	70909399		2203	4300	6503	COL19A1	SO:0001583	missense	0			-	HGNC		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3182A>C	6.37:g.70909399A>C	ENSP00000316030:p.Lys1061Thr	Somatic	0	86	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.K1061T	ENST00000322773.4	37	c.3182	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055660	0.55325	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.93488	-3.23;-3.23	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.81497	2.545	0.47153	D	0.999336	D	0.89917	1.0	D	0.66084	0.941	D	0.93867	0.7159	10	0.15952	T	0.53	.	16.3469	0.83138	1.0:0.0:0.0:0.0	.	1061	Q14993	COJA1_HUMAN	T	1061;683;136	ENSP00000316030:K1061T;ENSP00000377013:K683T	ENSP00000316030:K1061T	K	+	2	0	COL19A1	70966120	1.000000	0.71417	0.993000	0.49108	0.774000	0.43823	6.372000	0.73123	2.263000	0.75096	0.528000	0.53228	AAG	-	NULL		0.488	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	protein_coding	OTTHUMT00000041127.1	A		-		70909399	1	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70909399	A	C	70909399	3	2	83	1	0	0	0	0	1	0	0	0	3678	72	3	5	3372	5	COL19A1	6	70909399	Missense_Mutation	SNP	A	TCGA-DX-A7EF-01A-11D-A33E-09	33662246	70909399	100205668	26	4665											
PCLO	27445	genome.wustl.edu	37	chr7	82582943	82582944	+	Frame_Shift_Ins	INS	-	-	T													ctggagatgcaactgttaacINSttttttttaggaagaatagt							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr7:82582943_82582944insT	ENST00000333891.9	-	5	7662_7663	c.7325_7326insA	c.(7324-7326)aagfs	p.K2442fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.K2442fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K2442N(2)|p.K2373N(1)		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						CAACTGTTAACTTTTTTTTAGG	0.495																																																	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)						ENSG00000186472																																			PCLO	SO:0001589	frameshift_variant	0				HGNC	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.7326dupA	7.37:g.82582951_82582951dupT	ENSP00000334319:p.Lys2442fs	Somatic	0	44	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67		Frame_Shift_Ins	INS							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.L2443fs	ENST00000333891.9	37	c.7326_7325	CCDS47630.1	7																																																																																			-	NULL		0.495	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	-	NM_014510			82582944	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	frame_shift_ins	INS	0.096:0.984	T	T	82582944	-	T	82582943	7	5	83	1	0	1	1	0	0	0	0	0	11585	564	20	0	8203	0	PCLO	7	82582943	Frame_Shift_Ins	INS	-	TCGA-DX-A7EF-01A-11D-A33E-09		82582943	76555720	27	4666											
MET	4233	genome.wustl.edu	37	chr7	116339237	116339237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaggcactagcaaagtcCgagatgaatgtgaatatgaa	11	5	0	5			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr7:116339237C>T	ENST00000318493.6	+	2	286	c.99C>T	c.(97-99)tcC>tcT	p.S33S	MET_ENST00000397752.3_Silent_p.S33S|MET_ENST00000436117.2_Silent_p.S33S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAGCAAAGTCCGAGATGAATG	0.498			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0								ENSG00000105976						91	90	90					7																	116339237		1964	4165	6129	MET	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	-	HGNC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.99C>T	7.37:g.116339237C>T		Somatic	0	70	0		0.623049900416291	42	68.61	94	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	33	53.52	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP							pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S33	ENST00000318493.6	37	c.99	CCDS47689.1	7																																																																																			-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semap_dom		0.498	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	protein_coding	OTTHUMT00000059620.3	C		-		116339237	1	no_errors	ENST00000318493	ensembl	human	known	74_37	silent	SNP	0.005	T	T	116339237	C	T	116339237	2	4	83	1	0	0	0	0	0	0	0	1	9487	639	23	1		1	MET	7	116339237	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	33756294	116339237	42799426	28	4667											
OPN1SW	611	genome.wustl.edu	37	chr7	128415802	128415802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggccccactgaagagaTatttttgaacagataaaact	7	10	0	4	rs200504235		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr7:128415802T>G	ENST00000249389.2	-	1	42	c.43A>C	c.(43-45)Atc>Ctc	p.I15L		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	15					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACTGAAGAGATATTTTTGAAC	0.522													T|||	1	0.000199681	8e-04	0	5008	,	,		17509	0		0	False		,,,				2504	0																0								ENSG00000128617	T	LEU/ILE	1,4405	2.1+/-5.4	0,1,2202	55	60	59		43	-0.3	0.4	7		59	0,8600		0,0,4300	yes	missense	OPN1SW	NM_001708.2	5	0,1,6502	GG,GT,TT		0.0,0.0227,0.0077	benign	15/349	128415802	1,13005	2203	4300	6503	OPN1SW	SO:0001583	missense	0			GMAF=0.0005	HGNC	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.43A>C	7.37:g.128415802T>G	ENSP00000249389:p.Ile15Leu	Somatic	0	59	0		0.623049900416291	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	80	25.93	Q13877	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.I15L	ENST00000249389.2	37	c.43	CCDS5806.1	7	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	5.561	0.288291	0.10513	2.27E-4	0.0	ENSG00000128617	ENST00000249389	T	0.36157	1.27	4.87	-0.303	0.12792	.	0.716386	0.14218	N	0.333594	T	0.23926	0.0579	L	0.44542	1.39	0.27052	N	0.963752	B	0.02656	0.0	B	0.06405	0.002	T	0.18999	-1.0319	10	0.26408	T	0.33	.	4.7141	0.12887	0.0:0.2685:0.3506:0.3809	.	15	P03999	OPSB_HUMAN	L	15	ENSP00000249389:I15L	ENSP00000249389:I15L	I	-	1	0	OPN1SW	128203038	0.999000	0.42202	0.433000	0.26760	0.019000	0.09904	0.546000	0.23284	-0.188000	0.10499	-0.648000	0.03929	ATC	-	prints_Opsin_blue		0.522	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	protein_coding	OTTHUMT00000350655.1	T	NM_001708	rs200504235		128415802	-1	no_errors	ENST00000249389	ensembl	human	known	74_37	missense	SNP	0.972	G	G	128415802	T	G	128415802	3	3	83	1	0	0	0	0	1	0	0	0	10882	1406	49	5	1023	5	OPN1SW	7	128415802	Missense_Mutation	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09	12076565	128415802	30722861	29	4668											
SLC13A4	26266	genome.wustl.edu	37	chr7	135366355	135366355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcgcccatgctgggtAagtgtccaggtggaagaggc	15	11	0	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr7:135366355A>G	ENST00000354042.4	-	16	2526	c.1837T>C	c.(1837-1839)Tac>Cac	p.Y613H	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	613					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CATGCTGGGTAAGTGTCCAGG	0.542																																																	0								ENSG00000164707						188	139	156					7																	135366355		2203	4300	6503	SLC13A4	SO:0001583	missense	0			-	HGNC	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1837T>C	7.37:g.135366355A>G	ENSP00000297282:p.Tyr613His	Somatic	0	66	0		0.623049900416291	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	146	10.98	A4D1Q4|Q8N631	Missense_Mutation	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.Y613H	ENST00000354042.4	37	c.1837	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008063	0.54361	.	.	ENSG00000164707	ENST00000354042	T	0.68765	-0.35	5.11	5.11	0.69529	.	0.111999	0.64402	D	0.000008	T	0.65954	0.2741	M	0.63843	1.955	0.31021	N	0.718109	D;P	0.57571	0.98;0.856	B;B	0.44278	0.445;0.328	T	0.74144	-0.3760	10	0.62326	D	0.03	.	12.9197	0.58224	1.0:0.0:0.0:0.0	.	482;613	Q59HF0;Q9UKG4	.;S13A4_HUMAN	H	613	ENSP00000297282:Y613H	ENSP00000297282:Y613H	Y	-	1	0	SLC13A4	135016895	1.000000	0.71417	0.981000	0.43875	0.408000	0.30992	9.103000	0.94232	2.160000	0.67779	0.454000	0.30748	TAC	-	NULL		0.542	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	protein_coding	OTTHUMT00000340558.1	A	NM_012450	-		135366355	-1	no_errors	ENST00000354042	ensembl	human	known	74_37	missense	SNP	1.000	G	G	135366355	A	G	135366355	3	3	83	1	0	0	0	0	1	0	0	0	14402	362	13	5	47	5	SLC13A4	7	135366355	Missense_Mutation	SNP	A	TCGA-DX-A7EF-01A-11D-A33E-09	6950553	135366355	23772308	30	4669											
NAT1	9	genome.wustl.edu	37	chr8	18080367	18080367	+	Frame_Shift_Del	DEL	T	T	-													aaaaagtgctgaaaaatataTttaatatttccttgcagaga							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr8:18080367delT	ENST00000517492.1	+	3	1449	c.811delT	c.(811-813)tttfs	p.F271fs	NAT1_ENST00000539092.1_Frame_Shift_Del_p.F271fs|NAT1_ENST00000545197.1_Frame_Shift_Del_p.F333fs|NAT1_ENST00000307719.4_Frame_Shift_Del_p.F271fs|NAT1_ENST00000520546.1_Frame_Shift_Del_p.F271fs|NAT1_ENST00000541942.1_Frame_Shift_Del_p.F271fs|NAT1_ENST00000518029.1_Frame_Shift_Del_p.F271fs|NAT1_ENST00000535084.1_Frame_Shift_Del_p.F271fs			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GAAAAATATATTTAATATTTC	0.333																																																	0								ENSG00000171428						30	33	32					8																	18080367		2196	4299	6495	NAT1	SO:0001589	frameshift_variant	0				HGNC	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.811delT	8.37:g.18080367delT	ENSP00000429407:p.Phe271fs	Somatic	0	76	0		0.623049900416291	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	C9JWA6|Q86SY5	Frame_Shift_Del	DEL							pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.F333fs	ENST00000517492.1	37	c.997	CCDS6007.1	8																																																																																			-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase		0.333	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	protein_coding	OTTHUMT00000374828.1	T	NM_000662			18080367	1	no_errors	ENST00000545197	ensembl	human	known	74_37	frame_shift_del	DEL	0.982	-	-	18080367	T	-	18080367	7	5	83	1	0	1	0	1	0	0	0	0	10175	1493	52	0	1007	0	NAT1	8	18080367	Frame_Shift_Del	DEL	T	TCGA-DX-A7EF-01A-11D-A33E-09		18080367	128283655	31	4670											
TTC39B	158219	genome.wustl.edu	37	chr9	15211327	15211327	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggatgtcctgttgctcgAaggtcaggacagcctgcaac	12	11	2	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr9:15211327A>T	ENST00000512701.2	-	5	587	c.551T>A	c.(550-552)tTc>tAc	p.F184Y	TTC39B_ENST00000507285.1_Missense_Mutation_p.F19Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.F118Y|TTC39B_ENST00000297615.5_Missense_Mutation_p.F115Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.F184Y|TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000507993.1_Missense_Mutation_p.F19Y|TTC39B_ENST00000355694.2_Missense_Mutation_p.F118Y			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	184										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTGTTGCTCGAAGGTCAGGAC	0.463																																																	0								ENSG00000155158						154	133	141					9																	15211327		2203	4300	6503	TTC39B	SO:0001583	missense	0			-	HGNC	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.551T>A	9.37:g.15211327A>T	ENSP00000422496:p.Phe184Tyr	Somatic	0	46	0		0.623049900416291	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP							pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.F184Y	ENST00000512701.2	37	c.551	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	A	34	5.308083	0.95629	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993;ENST00000541445	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.989;0.989	D;D;D;D;D	0.87578	0.997;0.998;0.996;0.934;0.934	T	0.74278	-0.3717	10	0.51188	T	0.08	-21.6203	15.7917	0.78369	1.0:0.0:0.0:0.0	.	115;184;184;118;118	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	Y	184;115;118;184;19;19;118	ENSP00000370231:F184Y;ENSP00000297615:F115Y;ENSP00000347920:F118Y;ENSP00000422496:F184Y;ENSP00000426539:F19Y;ENSP00000423392:F19Y;ENSP00000442880:F118Y	ENSP00000297615:F115Y	F	-	2	0	TTC39B	15201327	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.930000	0.92872	2.218000	0.71995	0.533000	0.62120	TTC	-	pfam_OMP_IML2_mit/TPR_39		0.463	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	protein_coding	OTTHUMT00000051758.3	A	NM_152574	-		15211327	-1	no_errors	ENST00000512701	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15211327	A	T	15211327	3	4	83	1	0	0	0	0	1	0	0	0	16715	246	9	5	1582	5	TTC39B	9	15211327	Missense_Mutation	SNP	A	TCGA-DX-A7EF-01A-11D-A33E-09		15211327	126002104	32	4671											
TSC1	7248	genome.wustl.edu	37	chr9	135772703	135772703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatccttttctgagcctcaTacctgctctctgcggcctgc	7	15	3	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr9:135772703T>C	ENST00000298552.3	-	22	3064	c.2843A>G	c.(2842-2844)tAt>tGt	p.Y948C	TSC1_ENST00000440111.2_Missense_Mutation_p.Y948C|TSC1_ENST00000545250.1_Missense_Mutation_p.Y897C	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	948					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGAGCCTCATACCTGCTCTC	0.423			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)						ENSG00000165699						106	110	109					9																	135772703		2203	4300	6503	TSC1	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	-	HGNC	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2843A>G	9.37:g.135772703T>C	ENSP00000298552:p.Tyr948Cys	Somatic	0	69	0		0.623049900416291	7	56.25	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	14	67.44	B7Z897|Q5VVN5	Missense_Mutation	SNP							pfam_Hamartin,superfamily_ARM-type_fold	p.Y948C	ENST00000298552.3	37	c.2843	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970225	0.53614	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.87029	-2.2;-2.2;-2.03	5.61	5.61	0.85477	.	0.062767	0.64402	D	0.000003	D	0.84897	0.5574	M	0.62723	1.935	0.80722	D	1	P;P	0.42456	0.78;0.453	B;B	0.37346	0.247;0.159	D	0.85382	0.1120	10	0.42905	T	0.14	-13.3069	14.9826	0.71321	0.0:0.0:0.0:1.0	.	897;948	B7Z897;Q92574	.;TSC1_HUMAN	C	948;948;897	ENSP00000298552:Y948C;ENSP00000394524:Y948C;ENSP00000444017:Y897C	ENSP00000298552:Y948C	Y	-	2	0	TSC1	134762524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.006000	0.63978	2.137000	0.66172	0.528000	0.53228	TAT	-	NULL		0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	protein_coding	OTTHUMT00000054799.1	T		-		135772703	-1	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135772703	T	C	135772703	3	2	83	1	0	0	0	0	1	0	0	0	16612	1406	49	5	659	5	TSC1	9	135772703	Missense_Mutation	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09	120561376	135772703	5440728	33	4672											
MYO3A	53904	genome.wustl.edu	37	chr10	26463350	26463350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaacaccaacagaagTagcaagaaacactcataatt	5	10	2	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr10:26463350T>C	ENST00000265944.5	+	30	4323	c.4157T>C	c.(4156-4158)gTa>gCa	p.V1386A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1386					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						CCAACAGAAGTAGCAAGAAAC	0.388																																																	0								ENSG00000095777						141	132	135					10																	26463350		2203	4300	6503	MYO3A	SO:0001583	missense	0			-	HGNC	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.4157T>C	10.37:g.26463350T>C	ENSP00000265944:p.Val1386Ala	Somatic	0	60	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.V1386A	ENST00000265944.5	37	c.4157	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	T	7.436	0.639771	0.14386	.	.	ENSG00000095777	ENST00000265944	T	0.76060	-0.99	5.94	-3.72	0.04411	.	0.872750	0.10166	N	0.707700	T	0.51415	0.1673	N	0.22421	0.69	0.24330	N	0.995003	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.09338	T	0.73	.	7.6591	0.28392	0.0:0.381:0.4178:0.2012	.	1386	Q8NEV4	MYO3A_HUMAN	A	1386	ENSP00000265944:V1386A	ENSP00000265944:V1386A	V	+	2	0	MYO3A	26503356	0.006000	0.16342	0.018000	0.16275	0.400000	0.30750	-0.524000	0.06222	-0.677000	0.05231	-0.376000	0.06991	GTA	-	NULL		0.388	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	T	NM_017433	-		26463350	1	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	SNP	0.063	C	C	26463350	T	C	26463350	3	2	83	1	0	0	0	0	1	0	0	0	10078	1638	57	5	4267	5	MYO3A	10	26463350	Missense_Mutation	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09		26463350	109071397	34	4673											
ANK3	288	genome.wustl.edu	37	chr10	61833091	61833091	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaacatctttatagattttGgagagaatttcttttttggg	9	3	2	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr10:61833091G>T	ENST00000280772.2	-	37	7739	c.7548C>A	c.(7546-7548)tcC>tcA	p.S2516S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2516					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)			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						TATAGATTTTGGAGAGAATTT	0.413																																																	0								ENSG00000151150						102	111	108					10																	61833091		2203	4300	6503	ANK3	SO:0001819	synonymous_variant	0			-	HGNC	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.7548C>A	10.37:g.61833091G>T		Somatic	0	45	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S2516	ENST00000280772.2	37	c.7548	CCDS7258.1	10																																																																																			-	NULL		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61833091	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	SNP	1.000	T	T	61833091	G	T	61833091	2	4	83	1	0	0	0	0	0	0	0	1	622	1335	47	3		3	ANK3	10	61833091	Silent	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	35369741	61833091	73701656	35	4674											
KNDC1	85442	genome.wustl.edu	37	chr10	134980985	134980985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcctgtccatgcggaGcgtggcccacgccgccatct	13	16	1	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr10:134980985G>C	ENST00000304613.3	+	2	224	c.203G>C	c.(202-204)aGc>aCc	p.S68T	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.S3T|KNDC1_ENST00000368572.2_Missense_Mutation_p.S68T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	68	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCATGCGGAGCGTGGCCCAC	0.657																																																	0								ENSG00000171798						43	33	36					10																	134980985		2199	4298	6497	KNDC1	SO:0001583	missense	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.203G>C	10.37:g.134980985G>C	ENSP00000304437:p.Ser68Thr	Somatic	0	56	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S68T	ENST00000304613.3	37	c.203	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	.	13.72	2.322190	0.41096	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.73575	-0.76;-0.76;1.0	4.05	3.14	0.36123	KIND (2);	0.140304	0.44483	D	0.000444	T	0.81498	0.4835	M	0.62723	1.935	0.40708	D	0.982546	D;D	0.71674	0.998;0.996	D;D	0.70935	0.971;0.966	T	0.82002	-0.0673	10	0.87932	D	0	-9.6631	9.4479	0.38708	0.1089:0.0:0.8911:0.0	.	3;68	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	T	68;68;3	ENSP00000304437:S68T;ENSP00000357561:S68T;ENSP00000357560:S3T	ENSP00000304437:S68T	S	+	2	0	KNDC1	134830975	1.000000	0.71417	0.123000	0.21794	0.016000	0.09150	9.236000	0.95360	0.826000	0.34661	0.313000	0.20887	AGC	-	smart_KIND		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	G	NM_152643	-		134980985	1	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	SNP	1.000	C	C	134980985	G	C	134980985	3	2	83	1	0	0	0	0	1	0	0	0	8428	971	34	4	209	4	KNDC1	10	134980985	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	73147894	134980985	553762	36	4675											
TMEM132A	54972	genome.wustl.edu	37	chr11	60704165	60704165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctcaagcaccctggcccGaaaggaggctggggggcggc	16	14	1	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr11:60704165G>A	ENST00000453848.2	+	11	3016	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R954Q			Q24JP5	T132A_HUMAN	transmembrane protein 132A	953	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACCCTGGCCCGAAAGGAGGCT	0.697																																																	0								ENSG00000006118						10	14	13					11																	60704165		2179	4278	6457	TMEM132A	SO:0001583	missense	0			-	HGNC	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2858G>A	11.37:g.60704165G>A	ENSP00000405823:p.Arg953Gln	Somatic	0	41	0		0.623049900416291	78	29.73	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP							NULL	p.R954Q	ENST00000453848.2	37	c.2861	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250416	0.59212	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05925	3.37;3.37	4.55	4.55	0.56014	.	0.250281	0.28047	N	0.016809	T	0.09992	0.0245	L	0.53249	1.67	0.29495	N	0.85534	P;P	0.52061	0.95;0.95	B;B	0.42798	0.398;0.398	T	0.02661	-1.1127	10	0.87932	D	0	-20.3357	15.6405	0.76997	0.0:0.0:1.0:0.0	.	953;954	Q24JP5;Q24JP5-2	T132A_HUMAN;.	Q	704;953;954	ENSP00000405823:R953Q;ENSP00000005286:R954Q	ENSP00000005286:R954Q	R	+	2	0	TMEM132A	60460741	0.943000	0.32029	0.992000	0.48379	0.953000	0.61014	2.611000	0.46334	2.537000	0.85549	0.655000	0.94253	CGA	-	NULL		0.697	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	protein_coding	OTTHUMT00000396352.1	G	NM_017870	-		60704165	1	no_errors	ENST00000005286	ensembl	human	known	74_37	missense	SNP	0.905	A	A	60704165	G	A	60704165	3	1	83	1	0	0	0	0	1	0	0	0	16052	1058	37	1	2903	1	TMEM132A	11	60704165	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		60704165	74302351	37	4676											
AHNAK	79026	genome.wustl.edu	37	chr11	62288755	62288755	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttgggggccttgatgttCatctctggcatcttgaactt	10	8	3	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr11:62288755C>T	ENST00000378024.4	-	5	13408	c.13134G>A	c.(13132-13134)atG>atA	p.M4378I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4378					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGATGTTCATCTCTGGCA	0.473																																																	0								ENSG00000124942						146	152	150					11																	62288755		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13134G>A	11.37:g.62288755C>T	ENSP00000367263:p.Met4378Ile	Somatic	0	106	0		0.623049900416291	771	31.9	363	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M4378I	ENST00000378024.4	37	c.13134	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	6.448	0.450753	0.12223	.	.	ENSG00000124942	ENST00000378024	T	0.01126	5.3	4.84	2.96	0.34315	.	0.056663	0.64402	D	0.000005	T	0.01695	0.0054	L	0.61218	1.895	0.31043	N	0.716115	B	0.13145	0.007	B	0.12156	0.007	T	0.14008	-1.0488	10	0.21014	T	0.42	.	10.8698	0.46877	0.0:0.8439:0.0:0.1561	.	4378	Q09666	AHNK_HUMAN	I	4378	ENSP00000367263:M4378I	ENSP00000367263:M4378I	M	-	3	0	AHNAK	62045331	0.984000	0.35163	1.000000	0.80357	0.141000	0.21300	1.185000	0.32065	0.562000	0.29204	0.551000	0.68910	ATG	-	NULL		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	C	NM_024060	-		62288755	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62288755	C	T	62288755	3	4	83	1	0	0	0	0	1	0	0	0	414	826	29	2	4658	2	AHNAK	11	62288755	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	1584590	62288755	72717761	38	4677											
AEBP2	121536	genome.wustl.edu	37	chr12	19667686	19667686	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaagctacccaaagaTactgccttgcttttggaccc	6	12	1	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr12:19667686T>A	ENST00000398864.3	+	7	1475	c.1449T>A	c.(1447-1449)gaT>gaA	p.D483E	AEBP2_ENST00000266508.9_Missense_Mutation_p.D483E|AEBP2_ENST00000541908.1_Missense_Mutation_p.D254E|AEBP2_ENST00000360995.4_Missense_Mutation_p.D267E	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	483	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TACCCAAAGATACTGCCTTGC	0.323																																																	0								ENSG00000139154						78	75	76					12																	19667686		1821	4079	5900	AEBP2	SO:0001583	missense	0			-	HGNC		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1449T>A	12.37:g.19667686T>A	ENSP00000381840:p.Asp483Glu	Somatic	0	72	0		0.623049900416291	10	66.67	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D483E	ENST00000398864.3	37	c.1449	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354879	0.61293	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995;ENST00000512223;ENST00000398731	T;T;T;T	0.69926	-0.25;-0.33;-0.44;-0.19	5.79	2.09	0.27110	.	.	.	.	.	T	0.70666	0.3250	L	0.39898	1.24	0.40415	D	0.979782	D	0.64830	0.994	D	0.72625	0.978	T	0.66685	-0.5861	9	0.37606	T	0.19	.	9.825	0.40905	0.0:0.2504:0.0:0.7496	.	483	Q6ZN18	AEBP2_HUMAN	E	254;483;417;483;267;93;81	ENSP00000437983:D254E;ENSP00000381840:D483E;ENSP00000266508:D483E;ENSP00000354267:D267E	ENSP00000266508:D483E	D	+	3	2	AEBP2	19558953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.670000	0.46833	0.454000	0.26884	0.524000	0.50904	GAT	-	NULL		0.323	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	protein_coding	OTTHUMT00000401575.1	T	NM_153207	-		19667686	1	no_errors	ENST00000398864	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19667686	T	A	19667686	3	1	83	1	0	0	0	0	1	0	0	0	350	1403	49	5	1475	5	AEBP2	12	19667686	Missense_Mutation	SNP	T	TCGA-DX-A7EF-01A-11D-A33E-09		19667686	114184209	39	4678											
KRT6C	286887	genome.wustl.edu	37	chr12	52867394	52867394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacccaggccaccactgCccctggagcgggacacggag	12	18	0	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr12:52867394C>T	ENST00000252250.6	-	1	175	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	43	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCCACCACTGCCCCTGGAGCG	0.667																																																	0								ENSG00000170465						15	23	20					12																	52867394		2136	4255	6391	KRT6C	SO:0001583	missense	0			-	HGNC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.128G>A	12.37:g.52867394C>T	ENSP00000252250:p.Gly43Asp	Somatic	0	56	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G43D	ENST00000252250.6	37	c.128	CCDS8829.1	12	.	.	.	.	.	.	.	.	.	.	c	13.72	2.321913	0.41096	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.98617	-5.03	3.02	3.02	0.34903	.	0.246454	0.29814	N	0.011138	D	0.98950	0.9643	M	0.92077	3.27	0.38158	D	0.938945	D	0.54047	0.964	P	0.53450	0.726	D	0.99930	1.1317	10	0.87932	D	0	.	15.2806	0.73781	0.0:1.0:0.0:0.0	.	43	P48668	K2C6C_HUMAN	D	43;28	ENSP00000252250:G43D	ENSP00000252250:G43D	G	-	2	0	KRT6C	51153661	0.094000	0.21725	0.999000	0.59377	0.501000	0.33797	3.115000	0.50391	1.979000	0.57680	0.514000	0.50259	GGC	-	NULL		0.667	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	protein_coding	OTTHUMT00000404976.1	C	NM_173086	-		52867394	-1	no_errors	ENST00000252250	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52867394	C	T	52867394	3	4	83	1	0	0	0	0	1	0	0	0	8484	739	26	2	1602	2	KRT6C	12	52867394	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	33199708	52867394	80984501	40	4679											
SMARCC2	6601	genome.wustl.edu	37	chr12	56583194	56583194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgggtcacggtgtccgCggcctcgtagtacttcacgt	13	12	2	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr12:56583194C>T	ENST00000267064.4	-	1	138	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.A18T|SMARCC2_ENST00000550164.1_Missense_Mutation_p.A18T|SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000394023.3_Missense_Mutation_p.A18T	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	18					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)			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)			ACGGTGTCCGCGGCCTCGTAG	0.726																																																	0								ENSG00000139613						45	42	43					12																	56583194		2203	4299	6502	SMARCC2	SO:0001583	missense	0			-	HGNC	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.52G>A	12.37:g.56583194C>T	ENSP00000267064:p.Ala18Thr	Somatic	0	91	0		0.623049900416291	66	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP							pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.A18T	ENST00000267064.4	37	c.52	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720473	0.48728	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	2.06	0.0325	0.14176	.	0.207047	0.30538	N	0.009408	T	0.09905	0.0243	N	0.22421	0.69	0.27760	N	0.943869	B;B;B;B	0.19706	0.038;0.022;0.022;0.038	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.14643	-1.0465	10	0.62326	D	0.03	0.0868	1.0099	0.01495	0.2309:0.3893:0.2273:0.1524	.	18;23;18;18	F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;SMRC2_HUMAN;.	T	18	ENSP00000377591:A18T;ENSP00000449396:A18T;ENSP00000302919:A18T;ENSP00000267064:A18T	ENSP00000267064:A18T	A	-	1	0	SMARCC2	54869461	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	1.600000	0.36762	0.010000	0.14839	-0.549000	0.04216	GCG	-	NULL		0.726	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	protein_coding	OTTHUMT00000408370.1	C		-		56583194	-1	no_errors	ENST00000267064	ensembl	human	known	74_37	missense	SNP	0.977	T	T	56583194	C	T	56583194	3	4	83	1	0	0	0	0	1	0	0	0	14784	768	27	1	3801	1	SMARCC2	12	56583194	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	3715800	56583194	77268701	41	4680											
GNS	2799	genome.wustl.edu	37	chr12	65115480	65115480	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacatacacagtctgggaaGcattgctgtagggatatttc	10	8	2	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr12:65115480G>T	ENST00000258145.3	-	12	1484	c.1314C>A	c.(1312-1314)tgC>tgA	p.C438*	GNS_ENST00000543646.1_Nonsense_Mutation_p.C470*|GNS_ENST00000418919.2_Nonsense_Mutation_p.C382*|GNS_ENST00000542058.1_Nonsense_Mutation_p.C418*	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	438					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AGTCTGGGAAGCATTGCTGTA	0.423																																																	0								ENSG00000135677						140	118	125					12																	65115480		2203	4300	6503	GNS	SO:0001587	stop_gained	0			-	HGNC		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1314C>A	12.37:g.65115480G>T	ENSP00000258145:p.Cys438*	Somatic	0	22	0		0.623049900416291	215	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B4DYH8|Q53F05	Nonsense_Mutation	SNP							pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.C438*	ENST00000258145.3	37	c.1314	CCDS8970.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.861131|4.861131	0.91433|0.91433	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	.|.	.|.	.|.	5.71|5.71	-5.86|-5.86	0.02304|0.02304	.|.	0.087047|.	0.85682|.	D|.	0.000000|.	.|T	.|0.58163	.|0.2103	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63107	.|-0.6711	.|3	.|.	.|.	.|.	-21.6015|-21.6015	17.3523|17.3523	0.87327|0.87327	0.4393:0.0:0.5607:0.0|0.4393:0.0:0.5607:0.0	.|.	.|.	.|.	.|.	X|I	382;438;470;418;355|224	.|.	.|.	C|L	-|-	3|1	2|0	GNS|GNS	63401747|63401747	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.852000|0.852000	0.48524|0.48524	1.156000|1.156000	0.31712|0.31712	-0.990000|-0.990000	0.03481|0.03481	-1.300000|-1.300000	0.01332|0.01332	TGC|CTT	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.423	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	protein_coding	OTTHUMT00000401195.2	G		-		65115480	-1	no_errors	ENST00000258145	ensembl	human	known	74_37	nonsense	SNP	0.920	T	T	65115480	G	T	65115480	4	4	83	1	0	0	0	0	0	1	0	0	6552	963	34	3	356	3	GNS	12	65115480	Nonsense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	8532286	65115480	68736415	42	4681											
PCDH20	64881	genome.wustl.edu	37	chr13	61987993	61987994	+	Frame_Shift_Ins	INS	-	-	C													ggccaggctgccgatgagcaINScccccgcgggtagtccctcg							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr13:61987993_61987994insC	ENST00000409186.1	-	5	2343_2344	c.238_239insG	c.(238-240)gtgfs	p.V80fs	PCDH20_ENST00000409204.4_Frame_Shift_Ins_p.V80fs			Q8N6Y1	PCD20_HUMAN	protocadherin 20	80	Cadherin 1. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCCGATGAGCACCCCCGCGGGT	0.663																																																	0								ENSG00000197991																																			PCDH20	SO:0001589	frameshift_variant	0				HGNC	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.239dupG	13.37:g.61987998_61987998dupC	ENSP00000386653:p.Val80fs	Somatic	0	18	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Frame_Shift_Ins	INS							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V80fs	ENST00000409186.1	37	c.239_238	CCDS9442.2	13																																																																																			-	pfscan_Cadherin		0.663	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	protein_coding	OTTHUMT00000333054.2	-	NM_022843			61987994	-1	no_errors	ENST00000409186	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.994	C	C	61987994	-	C	61987993	7	5	83	1	0	1	1	0	0	0	0	0	11517	159	6	0	2620	0	PCDH20	13	61987993	Frame_Shift_Ins	INS	-	TCGA-DX-A7EF-01A-11D-A33E-09		61987993	53181885	43	4682											
MYH6	4624	genome.wustl.edu	37	chr14	23862702	23862702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgatttcatccagcccaGccatctcctctgttaggttc	7	14	3	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr14:23862702G>A	ENST00000356287.3	-	22	2983	c.2954C>T	c.(2953-2955)gCt>gTt	p.A985V	MYH6_ENST00000405093.3_Missense_Mutation_p.A985V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	985					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)			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)		ATCCAGCCCAGCCATCTCCTC	0.527																																																	0								ENSG00000197616						187	181	183					14																	23862702		2203	4300	6503	MYH6	SO:0001583	missense	0			-	HGNC	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.2954C>T	14.37:g.23862702G>A	ENSP00000348634:p.Ala985Val	Somatic	0	38	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A985V	ENST00000356287.3	37	c.2954	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	17.55	3.416677	0.62511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83591	-1.74;-1.74	5.12	5.12	0.69794	.	.	.	.	.	D	0.85349	0.5676	M	0.79926	2.475	0.54753	D	0.999987	B	0.17852	0.024	B	0.21151	0.033	D	0.83606	0.0131	9	0.87932	D	0	.	18.9196	0.92520	0.0:0.0:1.0:0.0	.	985	P13533	MYH6_HUMAN	V	985	ENSP00000386041:A985V;ENSP00000348634:A985V	ENSP00000348634:A985V	A	-	2	0	MYH6	22932542	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.532000	0.98057	2.557000	0.86248	0.650000	0.86243	GCT	-	NULL		0.527	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	protein_coding	OTTHUMT00000071796.3	G		-		23862702	-1	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23862702	G	A	23862702	3	1	83	1	0	0	0	0	1	0	0	0	10040	971	34	2	2933	2	MYH6	14	23862702	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		23862702	83486838	44	4683											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22851033	22851033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatactcgaaatgtcgtccGggcctctcacctgcttaaca	8	13	1	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr15:22851033G>T	ENST00000283645.4	+	11	1425	c.1295G>T	c.(1294-1296)cGg>cTg	p.R432L	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R432L|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	432					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R432L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AATGTCGTCCGGGCCTCTCAC	0.478																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000153575						162	153	156					15																	22851033		2203	4300	6503	TUBGCP5	SO:0001583	missense	0			-	HGNC	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1295G>T	15.37:g.22851033G>T	ENSP00000283645:p.Arg432Leu	Somatic	0	47	0		0.623049900416291	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP							pfam_TUBGCP	p.R432L	ENST00000283645.4	37	c.1295	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	19.13	3.767084	0.69878	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08546	3.08;3.08	5.62	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	L	0.56769	1.78	0.80722	D	1	P;P	0.48834	0.916;0.916	P;P	0.49502	0.613;0.613	T	0.00446	-1.1734	10	0.39692	T	0.17	-23.5634	16.3335	0.83051	0.0:0.132:0.868:0.0	.	432;432	Q96RT8;E9PB12	GCP5_HUMAN;.	L	432	ENSP00000283645:R432L;ENSP00000409217:R432L	ENSP00000283645:R432L	R	+	2	0	TUBGCP5	20402474	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	7.332000	0.79203	2.795000	0.96236	0.655000	0.94253	CGG	-	pfam_TUBGCP		0.478	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	protein_coding	OTTHUMT00000250998.2	G	NM_052903	-		22851033	1	no_errors	ENST00000283645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22851033	G	T	22851033	3	4	83	1	0	0	0	0	1	0	0	0	16776	1116	39	3	1337	3	TUBGCP5	15	22851033	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		22851033	79680359	45	4684											
CHRNA7	1139	genome.wustl.edu	37	chr15	32460485	32460485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccgctacattgccaaCcgcttccgctgccaggacga	11	15	0	0	rs200301018		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr15:32460485C>T	ENST00000306901.3	+	10	1432	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	CHRNA7_ENST00000454250.3_Silent_p.N474N|CHRNA7_ENST00000455693.2_Silent_p.N264N	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	445					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ACATTGCCAACCGCTTCCGCT	0.667																																					Esophageal Squamous(193;529 2900 40232 43193)												0								ENSG00000175344						1	2	2					15																	32460485		1021	2461	3482	CHRNA7	SO:0001819	synonymous_variant	0			-	HGNC	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1335C>T	15.37:g.32460485C>T		Somatic	0	18	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	3	62.50	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N474	ENST00000306901.3	37	c.1422	CCDS10027.1	15																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.667	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	protein_coding	OTTHUMT00000251410.2	C		rs200301018		32460485	1	no_errors	ENST00000454250	ensembl	human	known	74_37	silent	SNP	1.000	T	T	32460485	C	T	32460485	2	4	83	1	0	0	0	0	0	0	0	1	3390	506	18	2		2	CHRNA7	15	32460485	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	9609452	32460485	70070907	46	4685											
PARP6	56965	genome.wustl.edu	37	chr15	72541646	72541646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctttgccataggctgCtccatgcagcttgcagggaa	12	11	0	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr15:72541646C>T	ENST00000569795.1	-	20	2188	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	PARP6_ENST00000260376.7_Intron|PARP6_ENST00000287196.9_Missense_Mutation_p.A501T|PARP6_ENST00000413097.2_Intron			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	501	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCATAGGCTGCTCCATGCAGC	0.488																																																	0								ENSG00000137817						82	83	83					15																	72541646		1938	4130	6068	PARP6	SO:0001583	missense	0			-	HGNC	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.1501G>A	15.37:g.72541646C>T	ENSP00000456348:p.Ala501Thr	Somatic	0	53	0		0.623049900416291	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A501T	ENST00000569795.1	37	c.1501	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002848	0.93287	.	.	ENSG00000137817	ENST00000419739;ENST00000287196	T;T	0.13901	2.55;2.55	4.93	4.93	0.64822	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	U	0.000002	T	0.33323	0.0859	L	0.58101	1.795	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.85130	0.997;0.989;0.994	T	0.00901	-1.1521	10	0.24483	T	0.36	-7.4672	17.6582	0.88184	0.0:1.0:0.0:0.0	.	502;501;434	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	T	502;501	ENSP00000403265:A502T;ENSP00000287196:A501T	ENSP00000287196:A501T	A	-	1	0	PARP6	70328700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.513000	0.81739	2.719000	0.93026	0.655000	0.94253	GCA	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.488	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	protein_coding	OTTHUMT00000257315.2	C	NM_020214	-		72541646	-1	no_errors	ENST00000287196	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72541646	C	T	72541646	3	4	83	1	0	0	0	0	1	0	0	0	11466	797	28	2	411	2	PARP6	15	72541646	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	40081161	72541646	29989746	47	4686											
PTX4	390667	genome.wustl.edu	37	chr16	1536545	1536545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgttcctggtggaggCgtttgggaaaacgagggtgg	18	7	0	0	rs148493506		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr16:1536545C>T	ENST00000447419.2	-	3	857	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	PTX4_ENST00000293922.1_Missense_Mutation_p.A273T|PTX4_ENST00000440447.2_Silent_p.T129T			Q96A99	PTX4_HUMAN	pentraxin 4, long	278	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTGGTGGAGGCGTTTGGGAAA	0.647																																																	0								ENSG00000251692	C	THR/ALA	1,4397	2.1+/-5.4	0,1,2198	47	47	47		817	-3.1	0	16	dbSNP_134	47	0,8600		0,0,4300	no	missense	PTX4	NM_001013658.1	58	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	273/474	1536545	1,12997	2199	4300	6499	PTX4	SO:0001583	missense	0			-	HGNC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.832G>A	16.37:g.1536545C>T	ENSP00000445277:p.Ala278Thr	Somatic	0	12	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	3	66.67		Missense_Mutation	SNP							pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.A278T	ENST00000447419.2	37	c.832		16	.	.	.	.	.	.	.	.	.	.	C	2.204	-0.382340	0.04966	2.27E-4	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.62105	0.05;0.05	5.58	-3.06	0.05379	.	0.370607	0.26227	N	0.025597	T	0.33000	0.0848	N	0.21508	0.67	0.20638	N	0.999871	B	0.28378	0.209	B	0.22753	0.041	T	0.23726	-1.0180	10	0.11794	T	0.64	.	4.5068	0.11893	0.2312:0.4007:0.0:0.3681	.	273	Q96A99-2	.	T	278;273	ENSP00000445277:A278T;ENSP00000293922:A273T	ENSP00000293922:A273T	A	-	1	0	PTX4	1476546	0.000000	0.05858	0.041000	0.18516	0.004000	0.04260	-2.305000	0.01133	-0.159000	0.11021	-0.841000	0.03054	GCC	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.647	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	protein_coding	OTTHUMT00000432526.1	C	NM_001013658	rs148493506		1536545	-1	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	SNP	0.013	T	T	1536545	C	T	1536545	3	4	83	1	0	0	0	0	1	0	0	0	12831	768	27	1	607	1	PTX4	16	1536545	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09		1536545	88818208	48	4687											
NOMO2	283820	genome.wustl.edu	37	chr16	18554998	18554998	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccctttcatgggctccccatCacttcggacagagccagaca	8	16	2	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr16:18554998C>G	ENST00000381474.3	-	7	741	c.676G>C	c.(676-678)Gat>Cat	p.D226H	NOMO2_ENST00000543392.1_Missense_Mutation_p.D59H|NOMO2_ENST00000330537.6_Missense_Mutation_p.D226H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	226						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GGCTCCCCATCACTTCGGACA	0.473																																																	0								ENSG00000185164						175	140	152					16																	18554998		2196	4298	6494	NOMO2	SO:0001583	missense	0			-	HGNC	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.676G>C	16.37:g.18554998C>G	ENSP00000370883:p.Asp226His	Somatic	0	156	0		0.623049900416291	210	11.34	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	133	11.92	Q4G177	Missense_Mutation	SNP							pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.D226H	ENST00000381474.3	37	c.676	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	19.92	3.915677	0.73098	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04275	3.68;3.67;3.66	3.24	3.24	0.37175	Carboxypeptidase-like, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.991	P;P	0.61800	0.894;0.747	T	0.02371	-1.1169	10	0.56958	D	0.05	-25.9319	13.9357	0.64023	0.0:1.0:0.0:0.0	.	59;226	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	226;226;59	ENSP00000331851:D226H;ENSP00000370883:D226H;ENSP00000439970:D59H	ENSP00000331851:D226H	D	-	1	0	NOMO2	18462499	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	6.814000	0.75236	1.781000	0.52344	0.400000	0.26472	GAT	-	superfamily_CarboxyPept-like_regulatory		0.473	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	protein_coding	OTTHUMT00000435858.1	C	NM_001004060	-		18554998	-1	no_errors	ENST00000381474	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18554998	C	G	18554998	3	3	83	1	0	0	0	0	1	0	0	0	10534	826	29	4	3235	4	NOMO2	16	18554998	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	17018453	18554998	71799755	49	4688											
SALL1	6299	genome.wustl.edu	37	chr16	51175081	51175081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccactttttcagaggacGgggtggtaactgccgctgcc	13	11	1	1	rs201220768		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr16:51175081G>T	ENST00000251020.4	-	2	1085	c.1052C>A	c.(1051-1053)cCg>cAg	p.P351Q	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.P254Q	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	351					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)			TTCAGAGGACGGGGTGGTAAC	0.512																																					GBM(103;1352 1446 1855 4775 8890)												0								ENSG00000103449						68	73	72					16																	51175081		2198	4300	6498	SALL1	SO:0001583	missense	0			-	HGNC	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.1052C>A	16.37:g.51175081G>T	ENSP00000251020:p.Pro351Gln	Somatic	0	30	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P351Q	ENST00000251020.4	37	c.1052	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202508	0.58234	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08370	3.11;3.1	4.52	4.52	0.55395	.	0.219921	0.48286	D	0.000189	T	0.07052	0.0179	N	0.21448	0.665	0.52099	D	0.999945	B	0.21309	0.054	B	0.21151	0.033	T	0.34254	-0.9836	10	0.15066	T	0.55	.	17.4195	0.87511	0.0:0.0:1.0:0.0	.	351	Q9NSC2	SALL1_HUMAN	Q	351;254;315	ENSP00000251020:P351Q;ENSP00000407914:P254Q	ENSP00000251020:P351Q	P	-	2	0	SALL1	49732582	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.849000	0.75414	2.317000	0.78254	0.462000	0.41574	CCG	-	NULL		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	G	NM_002968	-		51175081	-1	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51175081	G	T	51175081	3	4	83	1	0	0	0	0	1	0	0	0	13818	1116	39	3	2930	3	SALL1	16	51175081	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	32620083	51175081	39179672	50	4689											
MAP2K4	6416	genome.wustl.edu	37	chr17	12013743	12013743	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaaattattcacagaGgtgggtatggattggtattt	11	3	1	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr17:12013743G>A	ENST00000353533.5	+	6	748	c.685G>A	c.(685-687)Gat>Aat	p.D229N	MAP2K4_ENST00000415385.3_Splice_Site_p.D240N|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|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)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATTCACAGAGGTGGGTATGG	0.313			"D, Mis, N"		"pancreatic, breast, colorectal"																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)						ENSG00000065559						89	90	89					17																	12013743		2203	4299	6502	MAP2K4	SO:0001630	splice_region_variant	0			-	HGNC	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.685+1G>A	17.37:g.12013743G>A		Somatic	0	148	0		0.623049900416291	12	14.29	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D240N	ENST00000353533.5	37	c.718	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315198	0.60524	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	D;D	0.92965	-3.14;-3.14	5.32	5.32	0.75619	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	0.97204	0.9086	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.997;0.998	D	0.98021	1.0371	10	0.87932	D	0	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	101;240;229	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	N	229;240;206;101	ENSP00000262445:D229N;ENSP00000410402:D240N	ENSP00000262445:D229N	D	+	1	0	MAP2K4	11954468	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	GAT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.313	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	protein_coding	OTTHUMT00000441226.1	G		-	Missense_Mutation	12013743	1	no_errors	ENST00000415385	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12013743	G	A	12013743	5	1	83	1	0	0	0	0	0	0	1	0	9241	1014	35	2	707	2	MAP2K4	17	12013743	Splice_Site	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		12013743	69181467	51	4690											
NXPH3	11248	genome.wustl.edu	37	chr17	47656469	47656469	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaacggggccgccggacctCgctttgcacccacgacccag	12	17	0	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr17:47656469C>A	ENST00000328741.5	+	2	928	c.566C>A	c.(565-567)tCg>tAg	p.S189*	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Nonsense_Mutation_p.S189*	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	189	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CGCCGGACCTCGCTTTGCACC	0.592																																																	0								ENSG00000182575						95	92	93					17																	47656469		2203	4300	6503	NXPH3	SO:0001587	stop_gained	0			-	HGNC	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.566C>A	17.37:g.47656469C>A	ENSP00000329295:p.Ser189*	Somatic	0	34	0		0.623049900416291	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q8NDC3|Q8TBF6|Q9ULR1	Nonsense_Mutation	SNP							pfam_NXPH/NXPE,pirsf_Neurexophilin	p.S189*	ENST00000328741.5	37	c.566	CCDS11550.1	17	.	.	.	.	.	.	.	.	.	.	c	35	5.448163	0.96205	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.44	4.44	0.53790	.	0.401030	0.25701	N	0.028873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.4206	12.7421	0.57259	0.0:0.8346:0.1654:0.0	.	.	.	.	X	189	.	ENSP00000329295:S189X	S	+	2	0	NXPH3	45011468	0.011000	0.17503	1.000000	0.80357	0.997000	0.91878	2.034000	0.41145	2.310000	0.77875	0.556000	0.70494	TCG	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.592	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	protein_coding	OTTHUMT00000365143.1	C		-		47656469	1	no_errors	ENST00000328741	ensembl	human	known	74_37	nonsense	SNP	0.997	A	A	47656469	C	A	47656469	4	1	83	1	0	0	0	0	0	1	0	0	10794	893	31	3	572	3	NXPH3	17	47656469	Nonsense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	35642726	47656469	33538741	52	4691											
EPN3	55040	genome.wustl.edu	37	chr17	48617655	48617655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtacctgccctggccccGccctccacacactgctctgc	7	21	1	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr17:48617655G>A	ENST00000268933.3	+	6	1518	c.939G>A	c.(937-939)ccG>ccA	p.P313P	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Intron|EPN3_ENST00000537145.1_Silent_p.P341P	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	313						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCTGGCCCCGCCCTCCACAC	0.662																																																	0								ENSG00000049283						88	69	76					17																	48617655		2203	4300	6503	EPN3	SO:0001819	synonymous_variant	0			-	HGNC	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.939G>A	17.37:g.48617655G>A		Somatic	0	44	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP							pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.P341	ENST00000268933.3	37	c.1023	CCDS11570.1	17																																																																																			-	NULL		0.662	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	protein_coding	OTTHUMT00000367573.1	G	NM_017957	-		48617655	1	no_errors	ENST00000537145	ensembl	human	known	74_37	silent	SNP	0.952	A	A	48617655	G	A	48617655	2	1	83	1	0	0	0	0	0	0	0	1	5189	1074	38	1		1	EPN3	17	48617655	Silent	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	961186	48617655	32577555	53	4692											
SDK2	54549	genome.wustl.edu	37	chr17	71382003	71382003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctgccatcggattagcaCggaggtggtggtgtggggcg	18	8	0	0	rs562611295	byFrequency	TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr17:71382003C>A	ENST00000392650.3	-	32	4552	c.4552G>T	c.(4552-4554)Gtg>Ttg	p.V1518L	SDK2_ENST00000388726.3_Missense_Mutation_p.V1518L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1518	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						CGGATTAGCACGGAGGTGGTG	0.637																																																	0								ENSG00000069188						76	65	68					17																	71382003		2203	4299	6502	SDK2	SO:0001583	missense	0			-	HGNC	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.4552G>T	17.37:g.71382003C>A	ENSP00000376421:p.Val1518Leu	Somatic	0	26	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1518L	ENST00000392650.3	37	c.4552	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707220	0.89018	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.53857	0.6;0.6;0.6	4.57	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	N	0.20881	0.62	0.58432	D	0.999996	D;P;D	0.69078	0.997;0.929;0.994	D;P;D	0.64687	0.928;0.79;0.928	T	0.49390	-0.8945	10	0.15066	T	0.55	.	17.3082	0.87201	0.0:1.0:0.0:0.0	.	1518;1518;1518	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	1142;1518;1518;694;1518	ENSP00000376421:V1518L;ENSP00000373378:V1518L;ENSP00000407098:V694L	ENSP00000324967:V1518L	V	-	1	0	SDK2	68893598	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	7.046000	0.76592	2.248000	0.74166	0.655000	0.94253	GTG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	C	NM_019064	-		71382003	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71382003	C	A	71382003	3	1	83	1	0	0	0	0	1	0	0	0	13977	536	19	3	2022	3	SDK2	17	71382003	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	22764348	71382003	9813207	54	4693											
LGALS3BP	3959	genome.wustl.edu	37	chr17	76967850	76967850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttcgcagagcatcagGgctttgttttcgtaggcaat	11	10	1	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr17:76967850G>A	ENST00000262776.3	-	6	1874	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	522					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGAGCATCAGGGCTTTGTTTT	0.602											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)												0								ENSG00000108679						58	57	57					17																	76967850		2203	4300	6503	LGALS3BP	SO:0001819	synonymous_variant	0			-	HGNC	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1566C>T	17.37:g.76967850G>A		Somatic	0	59	0	1172	0.623049900416291	1188	28.38	474	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP							pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR	p.A522	ENST00000262776.3	37	c.1566	CCDS11759.1	17																																																																																			-	NULL		0.602	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	protein_coding	OTTHUMT00000437785.3	G	NM_005567	-		76967850	-1	no_errors	ENST00000262776	ensembl	human	known	74_37	silent	SNP	0.981	A	A	76967850	G	A	76967850	2	1	83	1	0	0	0	0	0	0	0	1	8746	1219	43	2		2	LGALS3BP	17	76967850	Silent	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	5585847	76967850	4227360	55	4694											
ZNF790	388536	genome.wustl.edu	37	chr19	37314268	37314268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taaagagaacgcttctggctGataaatgcaaaaacctgccc	8	10	1	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr19:37314268G>C	ENST00000356725.4	-	4	268	c.148C>G	c.(148-150)Cag>Gag	p.Q50E	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	50	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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCTTCTGGCTGATAAATGCAA	0.428																																																	0								ENSG00000197863						46	42	44					19																	37314268		2203	4300	6503	ZNF790	SO:0001583	missense	0			-	HGNC	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.148C>G	19.37:g.37314268G>C	ENSP00000349161:p.Gln50Glu	Somatic	0	44	0		0.623049900416291	3	66.67	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	12	57.14		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q50E	ENST00000356725.4	37	c.148	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	G	8.598	0.886198	0.17540	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.00784	5.7;5.7;5.7	3.58	-0.421	0.12332	Krueppel-associated box (3);	.	.	.	.	T	0.00608	0.0020	N	0.16266	0.395	0.09310	N	1	P	0.38504	0.634	B	0.33254	0.16	T	0.52895	-0.8514	9	0.62326	D	0.03	.	8.5918	0.33693	0.0:0.0:0.3925:0.6075	.	50	Q6PG37	ZN790_HUMAN	E	50	ENSP00000349161:Q50E;ENSP00000435944:Q50E;ENSP00000433389:Q50E	ENSP00000349161:Q50E	Q	-	1	0	ZNF790	42006108	0.000000	0.05858	0.850000	0.33497	0.481000	0.33189	-0.463000	0.06696	0.251000	0.21505	0.460000	0.39030	CAG	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	protein_coding	OTTHUMT00000385341.2	G	NM_206894	-		37314268	-1	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	SNP	0.277	C	C	37314268	G	C	37314268	3	2	83	1	0	0	0	0	1	0	0	0	18169	1299	45	4	1770	4	ZNF790	19	37314268	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		37314268	21814715	56	4695											
SLC27A5	10998	genome.wustl.edu	37	chr19	59010563	59010563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacgccctccacctcgtgCgtggacacgttctcgccctt	8	18	1	0			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr19:59010563C>T	ENST00000263093.2	-	8	1801	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Silent_p.T480T|SLC27A5_ENST00000594786.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	564					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCACCTCGTGCGTGGACACGT	0.642																																																	0								ENSG00000083807						81	71	74					19																	59010563		2203	4300	6503	SLC27A5	SO:0001819	synonymous_variant	0			-	HGNC	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1692G>A	19.37:g.59010563C>T		Somatic	0	64	0		0.623049900416291	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KVP6|B4DPQ1	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.T564	ENST00000263093.2	37	c.1692	CCDS12983.1	19																																																																																			-	pfam_AMP-dep_Synth/Lig		0.642	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	protein_coding	OTTHUMT00000467060.1	C	NM_012254	-		59010563	-1	no_errors	ENST00000263093	ensembl	human	known	74_37	silent	SNP	0.197	T	T	59010563	C	T	59010563	2	4	83	1	0	0	0	0	0	0	0	1	14537	755	27	1		1	SLC27A5	19	59010563	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	21696295	59010563	118420	57	4696											
SEL1L2	80343	genome.wustl.edu	37	chr20	13936777	13936777	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttcctctgctttgataGctgcaatacacaaaattttt	5	8	1	1	rs377357095		TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr20:13936777G>A	ENST00000284951.5	-	2	133	c.59C>T	c.(58-60)aCt>aTt	p.T20I	SEL1L2_ENST00000378072.5_Splice_Site_p.T20I|AL117333.1_ENST00000408401.1_RNA|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	20						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						TGCTTTGATAGCTGCAATACA	0.214																																																	0								ENSG00000101251						38	36	37					20																	13936777		1781	4030	5811	SEL1L2	SO:0001630	splice_region_variant	0			-	HGNC	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.59-1C>T	20.37:g.13936777G>A		Somatic	0	129	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	63	29.21	B4DXX5	Missense_Mutation	SNP							pfam_Sel1-like,smart_Sel1-like	p.T20I	ENST00000284951.5	37	c.59		20	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.282421	0.01398	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.22945	1.93;2.26	4.57	0.926	0.19430	.	0.816969	0.10656	N	0.649244	T	0.10937	0.0267	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.18871	0.015;0.023	T	0.38650	-0.9651	10	0.16896	T	0.51	.	5.8104	0.18463	0.0:0.099:0.4404:0.4606	.	20;20	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	I	20	ENSP00000367312:T20I;ENSP00000284951:T20I	ENSP00000284951:T20I	T	-	2	0	SEL1L2	13884777	0.988000	0.35896	0.126000	0.21872	0.031000	0.12232	0.222000	0.17699	0.038000	0.15604	0.462000	0.41574	ACT	-	NULL		0.214	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	G	NM_025229	-	Missense_Mutation	13936777	-1	no_errors	ENST00000284951	ensembl	human	known	74_37	missense	SNP	0.440	A	A	13936777	G	A	13936777	5	1	83	1	0	0	0	0	0	0	1	0	14019	985	34	2	2083	2	SEL1L2	20	13936777	Splice_Site	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		13936777	49088743	58	4697											
ZNF335	63925	genome.wustl.edu	37	chr20	44578874	44578876	+	In_Frame_Del	DEL	TGT	TGT	-													tcactgtgcagggtggccagTgtttcgtcatcactgttcag							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr20:44578874_44578876delTGT	ENST00000322927.2	-	22	3569_3571	c.3469_3471delACA	c.(3469-3471)acadel	p.T1157del	ZNF335_ENST00000426788.1_In_Frame_Del_p.T1002del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1157					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGTGGCCAGTGTTTCGTCATCA	0.626																																																	0								ENSG00000198026																																			ZNF335	SO:0001651	inframe_deletion	0				HGNC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3469_3471delACA	20.37:g.44578874_44578876delTGT	ENSP00000325326:p.Thr1157del	Somatic	0	35	0		0.623049900416291	60	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	B4DLG7|Q548D0|Q9H684	In_Frame_Del	DEL							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1157in_frame_del	ENST00000322927.2	37	c.3471_3469	CCDS13389.1	20																																																																																			-	NULL		0.626	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	TGT	NM_022095			44578876	-1	no_errors	ENST00000322927	ensembl	human	known	74_37	in_frame_del	DEL	0.141:0.993:0.993	-	-	44578876	TGT	-	44578874	7	5	83	1	0	1	0	1	0	0	0	0	17859	1683	59	0	585	0	ZNF335	20	44578874	In_Frame_Del	DEL	TGT	TCGA-DX-A7EF-01A-11D-A33E-09	30642097	44578874	18446646	59	4698											
PTTG1IP	754	genome.wustl.edu	37	chr21	46276273	46276276	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													tggtgatgatcagcgcctcaAagttcactggagattcaagc							TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr21:46276273_46276276delAAGT	ENST00000330938.3	-	4	501_504	c.281_284delACTT	c.(280-285)aactttfs	p.NF94fs	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_Frame_Shift_Del_p.NF73fs|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	94					multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CAGCGCCTCAAAGTTCACTGGAGA	0.613																																																	0								ENSG00000183255																																			PTTG1IP	SO:0001589	frameshift_variant	0				HGNC	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.281_284delACTT	21.37:g.46276273_46276276delAAGT	ENSP00000328325:p.Asn94fs	Somatic	0	45	0		0.623049900416291	344	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B2RDP7|D3DSL9|Q9NS09	Frame_Shift_Del	DEL							smart_Plexin-like_fold	p.N94fs	ENST00000330938.3	37	c.284_281	CCDS13715.1	21																																																																																			-	NULL		0.613	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1IP	protein_coding	OTTHUMT00000206553.1	AAGT				46276276	-1	no_errors	ENST00000330938	ensembl	human	known	74_37	frame_shift_del	DEL	0.995:1.000:1.000:1.000	-	-	46276276	AAGT	-	46276273	7	5	83	1	0	1	0	1	0	0	0	0	12828	14	1	0	270	0	PTTG1IP	21	46276273	Frame_Shift_Del	DEL	AAGT	TCGA-DX-A7EF-01A-11D-A33E-09		46276273	1853622	60	4699											
TMEM211	255349	genome.wustl.edu	37	chr22	25331358	25331358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcactggagaagatgatgGtcctcccttggaccttggtt	13	9	0	3			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr22:25331358G>T	ENST00000423535.1	-	3	544	c.545C>A	c.(544-546)aCc>aAc	p.T182N	TMEM211_ENST00000382744.1_Missense_Mutation_p.T111N|TMEM211_ENST00000407886.1_Missense_Mutation_p.T111N			Q6ICI0	TM211_HUMAN	transmembrane protein 211	182						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GAAGATGATGGTCCTCCCTTG	0.522																																																	0								ENSG00000206069						110	101	104					22																	25331358		2203	4300	6503	TMEM211	SO:0001583	missense	0			-	HGNC		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.545C>A	22.37:g.25331358G>T	ENSP00000387813:p.Thr182Asn	Somatic	0	34	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50		Missense_Mutation	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.T182N	ENST00000423535.1	37	c.545		22	.	.	.	.	.	.	.	.	.	.	G	2.384	-0.341496	0.05243	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	T;T;T	0.77229	-1.08;-0.65;-1.08	3.72	1.54	0.23209	.	0.962208	0.08543	N	0.930123	T	0.68495	0.3007	L	0.51422	1.61	0.09310	N	1	B	0.33073	0.396	B	0.29176	0.099	T	0.58405	-0.7642	10	0.54805	T	0.06	-26.0238	5.3803	0.16187	0.2838:0.0:0.7162:0.0	.	182	Q6ICI0	TM211_HUMAN	N	111;182;111	ENSP00000385494:T111N;ENSP00000387813:T182N;ENSP00000372192:T111N	ENSP00000372192:T111N	T	-	2	0	TMEM211	23661358	0.444000	0.25649	0.003000	0.11579	0.016000	0.09150	1.071000	0.30666	0.484000	0.27630	0.455000	0.32223	ACC	-	NULL		0.522	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	TMEM211	protein_coding		G	NM_001001663	-		25331358	-1	no_errors	ENST00000423535	ensembl	human	known	74_37	missense	SNP	0.024	T	T	25331358	G	T	25331358	3	4	83	1	0	0	0	0	1	0	0	0	16142	1261	44	3	61	3	TMEM211	22	25331358	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09		25331358	25973208	61	4700											
SSTR3	6753	genome.wustl.edu	37	chr22	37603369	37603369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgaccgtgcgggccacCggagctgtgcgccagcgggc	18	15	0	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr22:37603369C>T	ENST00000328544.3	-	2	1007	c.474G>A	c.(472-474)ccG>ccA	p.P158P	SSTR3_ENST00000402501.1_Silent_p.P158P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	158					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TGCGGGCCACCGGAGCTGTGC	0.682																																																	0								ENSG00000183473						50	48	49					22																	37603369		2203	4298	6501	SSTR3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.474G>A	22.37:g.37603369C>T		Somatic	0	18	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	A8K550|Q53ZR7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.P158	ENST00000328544.3	37	c.474	CCDS13944.1	22																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.682	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	protein_coding	OTTHUMT00000318802.1	C		-		37603369	-1	no_errors	ENST00000328544	ensembl	human	known	74_37	silent	SNP	0.000	T	T	37603369	C	T	37603369	2	4	83	1	0	0	0	0	0	0	0	1	15206	639	23	1		1	SSTR3	22	37603369	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	12272011	37603369	13701197	62	4701											
GRAP2	9402	genome.wustl.edu	37	chr22	40351885	40351885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggaaggatatgtgccCaagaatttcatagacatcca	9	9	1	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chr22:40351885C>T	ENST00000344138.4	+	3	404	c.141C>T	c.(139-141)ccC>ccT	p.P47P	GRAP2_ENST00000544756.1_Intron|GRAP2_ENST00000543252.1_Silent_p.P47P|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000407075.3_Silent_p.P47P	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	47	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GATATGTGCCCAAGAATTTCA	0.463																																																	0								ENSG00000100351						109	96	100					22																	40351885		2203	4300	6503	GRAP2	SO:0001819	synonymous_variant	0			-	HGNC	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.141C>T	22.37:g.40351885C>T		Somatic	0	62	0		0.623049900416291	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	18	68.97	B7Z8I3|O43726|Q9NRB7	Silent	SNP							pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.P47	ENST00000344138.4	37	c.141	CCDS13999.1	22																																																																																			-	pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain		0.463	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	protein_coding	OTTHUMT00000321295.1	C	NM_004810	-		40351885	1	no_errors	ENST00000344138	ensembl	human	known	74_37	silent	SNP	1.000	T	T	40351885	C	T	40351885	2	4	83	1	0	0	0	0	0	0	0	1	6756	581	21	2		2	GRAP2	22	40351885	Silent	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	2748516	40351885	10952681	63	4702											
PHKA1	5255	genome.wustl.edu	37	chrX	71932722	71932722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagatgctgtacacattatCtcggacccaagcatctttct	6	12	3	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chrX:71932722C>G	ENST00000373542.4	-	2	295	c.136G>C	c.(136-138)Gat>Cat	p.D46H	PHKA1_ENST00000339490.3_Missense_Mutation_p.D46H|PHKA1_ENST00000541944.1_Missense_Mutation_p.D46H|PHKA1_ENST00000373539.3_Missense_Mutation_p.D46H|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000373545.3_Missense_Mutation_p.D46H	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	46					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TACACATTATCTCGGACCCAA	0.507																																																	0								ENSG00000067177						68	56	60					X																	71932722		2203	4300	6503	PHKA1	SO:0001583	missense	0			-	HGNC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.136G>C	X.37:g.71932722C>G	ENSP00000362643:p.Asp46His	Somatic	0	53	0		0.623049900416291	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.D46H	ENST00000373542.4	37	c.136	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531812	0.85706	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.99905	-7.71;-7.71;-7.71;-7.71;-7.71	4.67	4.67	0.58626	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.046059	0.85682	D	0.000000	D	0.99921	0.9963	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.95864	0.8885	10	0.87932	D	0	-9.1022	14.0737	0.64877	0.0:1.0:0.0:0.0	.	46;46;46	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	H	46	ENSP00000362646:D46H;ENSP00000362643:D46H;ENSP00000441251:D46H;ENSP00000342469:D46H;ENSP00000362640:D46H	ENSP00000342469:D46H	D	-	1	0	PHKA1	71849447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.521000	0.81832	2.284000	0.76573	0.600000	0.82982	GAT	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.507	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	protein_coding	OTTHUMT00000058896.1	C		-		71932722	-1	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71932722	C	G	71932722	3	3	83	1	0	0	0	0	1	0	0	0	11845	913	32	4	3659	4	PHKA1	23	71932722	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09		71932722	83337838	64	4703											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961334	73961334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtcatcagtgatatcatCatcgccatccttttcacagg	7	11	5	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chrX:73961334C>A	ENST00000055682.6	-	3	3669	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1020					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGATATCATCATCGCCATCC	0.473																																																	0								ENSG00000050030						78	71	74					X																	73961334		2203	4300	6503	KIAA2022	SO:0001583	missense	0			-	HGNC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3058G>T	X.37:g.73961334C>A	ENSP00000055682:p.Asp1020Tyr	Somatic	0	37	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP							NULL	p.D1020Y	ENST00000055682.6	37	c.3058	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230222	0.79688	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37584	1.19;1.19	5.58	5.58	0.84498	.	0.264036	0.42548	D	0.000691	T	0.50017	0.1591	L	0.47716	1.5	0.80722	D	1	P	0.45212	0.853	P	0.54026	0.74	T	0.50136	-0.8863	10	0.87932	D	0	-1.8784	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1020	Q5QGS0	K2022_HUMAN	Y	1020	ENSP00000362567:D1020Y;ENSP00000055682:D1020Y	ENSP00000055682:D1020Y	D	-	1	0	KIAA2022	73878059	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.344000	0.79699	0.600000	0.82982	GAT	-	NULL		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	C	NM_001008537	-		73961334	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73961334	C	A	73961334	3	1	83	1	0	0	0	0	1	0	0	0	8271	826	29	3	1500	3	KIAA2022	23	73961334	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	2028612	73961334	81309226	65	4704											
TRPC5	7224	genome.wustl.edu	37	chrX	111090651	111090651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccattcctcccttggaCgagaaccattatactgaaag	6	12	0	2			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chrX:111090651C>T	ENST00000262839.2	-	6	2309	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	464					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCCCTTGGACGAGAACCATT	0.428																																																	0								ENSG00000072315						75	63	67					X																	111090651		2203	4300	6503	TRPC5	SO:0001583	missense	0			-	HGNC	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1391G>A	X.37:g.111090651C>T	ENSP00000262839:p.Arg464His	Somatic	0	38	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R464H	ENST00000262839.2	37	c.1391	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098511	0.37048	.	.	ENSG00000072315	ENST00000262839	T	0.70869	-0.52	5.51	5.51	0.81932	Ion transport (1);	0.058084	0.64402	D	0.000003	T	0.55321	0.1913	N	0.25485	0.75	0.49687	D	0.999811	B;B	0.15930	0.006;0.015	B;B	0.15870	0.009;0.014	T	0.50972	-0.8764	10	0.15066	T	0.55	-5.5772	12.0125	0.53295	0.0:0.9192:0.0:0.0808	.	465;464	Q59G51;Q9UL62	.;TRPC5_HUMAN	H	464	ENSP00000262839:R464H	ENSP00000262839:R464H	R	-	2	0	TRPC5	110977307	0.055000	0.20627	1.000000	0.80357	0.998000	0.95712	1.489000	0.35562	2.325000	0.78763	0.529000	0.55759	CGT	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.428	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	protein_coding	OTTHUMT00000057945.1	C	NM_012471	-		111090651	-1	no_errors	ENST00000262839	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111090651	C	T	111090651	3	4	83	1	0	0	0	0	1	0	0	0	16589	536	19	1	1554	1	TRPC5	23	111090651	Missense_Mutation	SNP	C	TCGA-DX-A7EF-01A-11D-A33E-09	37129317	111090651	44179909	66	4705											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996230	140996230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcataaagggcacctatGcctctgaggaggtcatctgg	11	10	5	1			TCGA-DX-A7EF-01A-11D-A33E-09	TCGA-DX-A7EF-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c5c19d-3879-4216-ab2b-b4ab3be9ca98	c66e0b91-0c95-4208-90c7-39a8f030fff1	g.chrX:140996230G>T	ENST00000285879.4	+	4	3326	c.3040G>T	c.(3040-3042)Gcc>Tcc	p.A1014S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.A81S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1014	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCTATGCCTCTGAGGA	0.547										HNSCC(15;0.026)																																							0								ENSG00000155495						86	78	81					X																	140996230		2203	4300	6503	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3040G>T	X.37:g.140996230G>T	ENSP00000285879:p.Ala1014Ser	Somatic	0	57	0		0.623049900416291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.26	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.A1014S	ENST00000285879.4	37	c.3040	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	9.349	1.065135	0.20067	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05925	3.37;3.37	0.837	0.837	0.18896	.	.	.	.	.	T	0.16342	0.0393	M	0.79475	2.455	0.09310	N	1	P	0.46952	0.887	P	0.53518	0.728	T	0.05852	-1.0860	8	0.72032	D	0.01	.	.	.	.	.	1014	O60732	MAGC1_HUMAN	S	1014;81	ENSP00000285879:A1014S;ENSP00000385500:A81S	ENSP00000285879:A1014S	A	+	1	0	MAGEC1	140823896	0.001000	0.12720	0.006000	0.13384	0.090000	0.18270	0.081000	0.14823	0.696000	0.31696	0.279000	0.19357	GCC	-	pfam_MAGE,pfscan_MAGE		0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	G	NM_005462	-		140996230	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.005	T	T	140996230	G	T	140996230	3	4	83	1	0	0	0	0	1	0	0	0	9182	1319	46	3	3046	3	MAGEC1	23	140996230	Missense_Mutation	SNP	G	TCGA-DX-A7EF-01A-11D-A33E-09	29905579	140996230	14274330	67	4706											
PRAMEF18	645414	genome.wustl.edu	37	chr1	13695804	13695804	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaccatccatggacgtgtcAttgccgtgaaagcagaaagt	11	9	1	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:13695804A>T	ENST00000376101.2	-	3	953	c.954T>A	c.(952-954)aaT>aaA	p.N318K	PRAMEF19_ENST00000540591.1_Missense_Mutation_p.N387K			Q5SWL8	PRA19_HUMAN	PRAME family member 19	318					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)					lung(3)	3	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)		TGGACGTGTCATTGCCGTGAA	0.557																																																	0								ENSG00000204480						9	11	10					1																	13695804		2068	4146	6214	PRAMEF19	SO:0001583	missense	0			-	HGNC			1p36.21	2013-01-17			ENSG00000204480	ENSG00000204480		"-"	24908	protein-coding gene	gene with protein product							Standard	NM_001099790		Approved	OTTHUMG00000007919	uc009vnu.1	Q5SWL8	OTTHUMG00000007919	ENST00000376101.2:c.954T>A	1.37:g.13695804A>T	ENSP00000365269:p.Asn318Lys	Somatic	0	120	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	69	31.00		Missense_Mutation	SNP							NULL	p.N387K	ENST00000376101.2	37	c.1161		1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931493	0.34096	.	.	ENSG00000204480	ENST00000376101;ENST00000540591	T;T	0.66099	-0.19;4.77	1.18	0.145	0.14829	.	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.86502	2.82	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63242	-0.6681	10	0.87932	D	0	.	3.4735	0.07575	0.295:0.0:0.705:0.0	.	387	F5H544	.	K	318;387	ENSP00000365269:N318K;ENSP00000446004:N387K	ENSP00000365269:N318K	N	-	3	2	PRAMEF19	13568391	0.000000	0.05858	0.002000	0.10522	0.105000	0.19272	-0.138000	0.10374	0.056000	0.16144	0.136000	0.15936	AAT	-	NULL		0.557	PRAMEF19-001	KNOWN	basic	protein_coding	PRAMEF19	protein_coding	OTTHUMT00000021794.2	A	NM_001099790	-		13695804	-1	no_errors	ENST00000540591	ensembl	human	known	74_37	missense	SNP	0.002	T	T	13695804	A	T	13695804	3	4	84	1	0	0	0	0	1	0	0	0	12438	214	8	5	1734	5	PRAMEF18	1	13695804	Missense_Mutation	SNP	A	TCGA-DX-A7EI-01A-11D-A33E-09		13695804	235554817	1	4707											
STXBP3	6814	genome.wustl.edu	37	chr1	109321988	109321988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgaactgacctttcaGgcaatggcatatgatctact	8	10	2	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:109321988G>T	ENST00000370008.3	+	9	815	c.765G>T	c.(763-765)caG>caT	p.Q255H	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	255	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TGACCTTTCAGGCAATGGCAT	0.368																																																	0								ENSG00000116266						199	187	191					1																	109321988		2203	4300	6503	STXBP3	SO:0001583	missense	0			-	HGNC	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.765G>T	1.37:g.109321988G>T	ENSP00000359025:p.Gln255His	Somatic	0	43	0		0.608108911283498	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP							pfam_Sec1-like,superfamily_Sec1-like	p.Q255H	ENST00000370008.3	37	c.765	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803589	0.70682	.	.	ENSG00000116266	ENST00000370008	D	0.82167	-1.58	5.77	3.63	0.41609	.	0.056656	0.64402	N	0.000001	D	0.87649	0.6230	M	0.89478	3.035	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.87797	0.2622	10	0.87932	D	0	-10.1474	4.1217	0.10108	0.2173:0.0:0.5775:0.2051	.	255	O00186	STXB3_HUMAN	H	255	ENSP00000359025:Q255H	ENSP00000359025:Q255H	Q	+	3	2	STXBP3	109123511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.316000	0.51960	1.396000	0.46663	0.655000	0.94253	CAG	-	pfam_Sec1-like,superfamily_Sec1-like		0.368	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	protein_coding	OTTHUMT00000030591.1	G	NM_007269	-		109321988	1	no_errors	ENST00000370008	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109321988	G	T	109321988	3	4	84	1	0	0	0	0	1	0	0	0	15361	991	35	3	799	3	STXBP3	1	109321988	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	95626184	109321988	139928633	2	4708											
LRIG2	9860	genome.wustl.edu	37	chr1	113637357	113637357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatggagcattttttggCttgaataacatggaagaact	11	4	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:113637357C>T	ENST00000361127.5	+	6	981	c.783C>T	c.(781-783)ggC>ggT	p.G261G		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	261					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CATTTTTTGGCTTGAATAACA	0.403																																																	0								ENSG00000198799						153	157	156					1																	113637357		2203	4300	6503	LRIG2	SO:0001819	synonymous_variant	0			-	HGNC	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.783C>T	1.37:g.113637357C>T		Somatic	0	98	0		0.608108911283498	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q9NSN2	Silent	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G261	ENST00000361127.5	37	c.783	CCDS30808.1	1																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.403	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	protein_coding	OTTHUMT00000033549.2	C	NM_014813	-		113637357	1	no_errors	ENST00000361127	ensembl	human	known	74_37	silent	SNP	0.987	T	T	113637357	C	T	113637357	2	4	84	1	0	0	0	0	0	0	0	1	8947	784	28	2		2	LRIG2	1	113637357	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	4315369	113637357	135613264	3	4709											
CD101	9398	genome.wustl.edu	37	chr1	117559985	117559985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctggagatcaccttcaCtgccatcacagacagtggca	9	14	3	2	rs371863251		TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:117559985C>T	ENST00000256652.4	+	5	1560	c.1502C>T	c.(1501-1503)aCt>aTt	p.T501I	CD101_ENST00000369470.1_Missense_Mutation_p.T501I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	501	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCACCTTCACTGCCATCACA	0.517																																																	0								ENSG00000134256	C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	99	90	93		1502	2.7	0	1		93	0,8600		0,0,4300	no	missense	CD101	NM_004258.3	89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	501/1022	117559985	1,13005	2203	4300	6503	CD101	SO:0001583	missense	0			-	HGNC	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1502C>T	1.37:g.117559985C>T	ENSP00000256652:p.Thr501Ile	Somatic	0	36	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q15856	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.T501I	ENST00000256652.4	37	c.1502	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574316	0.28092	2.27E-4	0.0	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.62639	0.01;0.01	4.62	2.72	0.32119	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.038600	0.07580	N	0.920109	T	0.39627	0.1085	L	0.54323	1.7	0.09310	N	1	B	0.27316	0.175	B	0.34038	0.174	T	0.48468	-0.9033	10	0.48119	T	0.1	-0.5717	6.1531	0.20322	0.0:0.7071:0.191:0.1019	.	501	Q93033	IGSF2_HUMAN	I	501	ENSP00000256652:T501I;ENSP00000358482:T501I	ENSP00000256652:T501I	T	+	2	0	CD101	117361508	0.000000	0.05858	0.000000	0.03702	0.725000	0.41563	-0.470000	0.06639	0.645000	0.30675	0.655000	0.94253	ACT	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.517	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	protein_coding	OTTHUMT00000033274.1	C	NM_004258	-		117559985	1	no_errors	ENST00000256652	ensembl	human	known	74_37	missense	SNP	0.001	T	T	117559985	C	T	117559985	3	4	84	1	0	0	0	0	1	0	0	0	2964	565	20	2	1520	2	CD101	1	117559985	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	3922628	117559985	131690636	4	4710											
CRTC2	200186	genome.wustl.edu	37	chr1	153924094	153924094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcctggaggttgggaTtgcttagggaggactgcagg	20	5	0	0			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:153924094T>C	ENST00000368633.1	-	11	1173	c.1046A>G	c.(1045-1047)aAt>aGt	p.N349S	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	349	Ser-rich.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGGTTGGGATTGCTTAGGGA	0.582																																																	0								ENSG00000160741						86	89	88					1																	153924094		2203	4300	6503	CRTC2	SO:0001583	missense	0			-	HGNC	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1046A>G	1.37:g.153924094T>C	ENSP00000357622:p.Asn349Ser	Somatic	0	34	0		0.608108911283498	118	59.45	173	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	58	48.21	Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP							NULL	p.N349S	ENST00000368633.1	37	c.1046	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728880	0.30684	.	.	ENSG00000160741	ENST00000368633	T	0.12361	2.69	4.35	4.35	0.52113	.	0.132595	0.48286	D	0.000195	T	0.17152	0.0412	M	0.62723	1.935	0.35480	D	0.798072	D	0.63880	0.993	D	0.72625	0.978	T	0.06789	-1.0807	10	0.13853	T	0.58	-9.5422	11.5331	0.50622	0.0:0.0:0.0:1.0	.	349	Q53ET0	CRTC2_HUMAN	S	349	ENSP00000357622:N349S	ENSP00000357622:N349S	N	-	2	0	CRTC2	152190718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.776000	0.75023	1.836000	0.53414	0.455000	0.32223	AAT	-	NULL		0.582	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	protein_coding	OTTHUMT00000090272.3	T	NM_181715	-		153924094	-1	no_errors	ENST00000368633	ensembl	human	known	74_37	missense	SNP	1.000	C	C	153924094	T	C	153924094	3	2	84	1	0	0	0	0	1	0	0	0	3902	1493	52	5	1051	5	CRTC2	1	153924094	Missense_Mutation	SNP	T	TCGA-DX-A7EI-01A-11D-A33E-09	36364109	153924094	95326527	5	4711											
OR10J5	127385	genome.wustl.edu	37	chr1	159505683	159505683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgatgatgttagcaaccaGagttaaaatgtagacagtta	9	4	0	4			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:159505683G>T	ENST00000334857.2	-	1	159	c.115C>A	c.(115-117)Ctg>Atg	p.L39M		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTAGCAACCAGAGTTAAAATG	0.403																																																	0								ENSG00000184155						136	122	127					1																	159505683		2203	4300	6503	OR10J5	SO:0001583	missense	0			-	HGNC		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.115C>A	1.37:g.159505683G>T	ENSP00000334441:p.Leu39Met	Somatic	0	48	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B9EH35|Q6IFH2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L39M	ENST00000334857.2	37	c.115	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139780	0.21205	.	.	ENSG00000184155	ENST00000334857	T	0.00611	6.23	4.43	1.48	0.22813	.	.	.	.	.	T	0.00967	0.0032	M	0.82193	2.58	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.46624	-0.9178	9	0.52906	T	0.07	.	8.3329	0.32197	0.2727:0.0:0.7273:0.0	.	39	Q8NHC4	O10J5_HUMAN	M	39	ENSP00000334441:L39M	ENSP00000334441:L39M	L	-	1	2	OR10J5	157772307	0.001000	0.12720	0.002000	0.10522	0.315000	0.28087	-0.196000	0.09532	0.214000	0.20742	0.557000	0.71058	CTG	-	prints_GPCR_Rhodpsn		0.403	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	protein_coding	OTTHUMT00000059021.1	G	NM_001004469	-		159505683	-1	no_errors	ENST00000334857	ensembl	human	known	74_37	missense	SNP	0.004	T	T	159505683	G	T	159505683	3	4	84	1	0	0	0	0	1	0	0	0	10914	933	33	3	816	3	OR10J5	1	159505683	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	5581589	159505683	89744938	6	4712											
SLC9A11	284525	genome.wustl.edu	37	chr1	173526547	173526547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagagtaaattaaaaaCtcctttaattccagaccacg	5	11	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:173526547C>T	ENST00000367714.3	-	10	1569	c.1147G>A	c.(1147-1149)Gtt>Att	p.V383I	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.V281I	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	383					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAATTAAAAACTCCTTTAATT	0.358																																																	0								ENSG00000162753						132	144	140					1																	173526547		2203	4300	6503	SLC9C2	SO:0001583	missense	0			-	HGNC	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1147G>A	1.37:g.173526547C>T	ENSP00000356687:p.Val383Ile	Somatic	0	84	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	51	30.67	Q86UF3	Missense_Mutation	SNP							pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V383I	ENST00000367714.3	37	c.1147	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	2.161	-0.392213	0.04932	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.24151	1.87;1.87	5.57	-3.25	0.05079	Cation/H+ exchanger (1);	1.118770	0.06767	N	0.782799	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.19946	0.027	T	0.44922	-0.9296	10	0.54805	T	0.06	-4.6968	4.0852	0.09943	0.3191:0.2488:0.0:0.4321	.	383	Q5TAH2	S9A11_HUMAN	I	383;281	ENSP00000356687:V383I;ENSP00000445437:V281I	ENSP00000356687:V383I	V	-	1	0	SLC9A11	171793170	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.820000	0.04457	-0.417000	0.07461	-0.293000	0.09583	GTT	-	pfam_Cation/H_exchanger		0.358	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	protein_coding	OTTHUMT00000084205.1	C	NM_178527	-		173526547	-1	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	SNP	0.000	T	T	173526547	C	T	173526547	3	4	84	1	0	0	0	0	1	0	0	0	14719	565	20	2	2303	2	SLC9A11	1	173526547	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	14020864	173526547	75724074	7	4713											
C4BPB	725	genome.wustl.edu	37	chr1	207271592	207271592	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccaggaagctcccaaaccaGagtgtgagaaggcacttgta	11	10	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:207271592G>C	ENST00000243611.5	+	5	895	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000391923.1_Missense_Mutation_p.E201Q|C4BPB_ENST00000367076.3_Missense_Mutation_p.E200Q|C4BPB_ENST00000367078.3_Missense_Mutation_p.E201Q	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	201					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						tcccaaaccagagtgtgagaa	0.517																																																	0								ENSG00000123843						138	115	123					1																	207271592		2203	4300	6503	C4BPB	SO:0001583	missense	0			-	HGNC	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.601G>C	1.37:g.207271592G>C	ENSP00000243611:p.Glu201Gln	Somatic	0	83	0		0.608108911283498	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	32	64.04	A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E201Q	ENST00000243611.5	37	c.601	CCDS1476.1	1	.	.	.	.	.	.	.	.	.	.	G	6.707	0.499034	0.12762	.	.	ENSG00000123843	ENST00000367078;ENST00000243611;ENST00000367076;ENST00000391923	T;T;T;T	0.23754	1.92;1.92;1.89;1.92	3.95	3.01	0.34805	.	1.290640	0.05637	N	0.582689	T	0.18593	0.0446	L	0.27053	0.805	0.19775	N	0.999956	B;B	0.24368	0.062;0.102	B;B	0.16289	0.007;0.015	T	0.23940	-1.0174	10	0.16896	T	0.51	-0.1205	9.5781	0.39470	0.0:0.2146:0.7854:0.0	.	201;200	P20851;P20851-2	C4BPB_HUMAN;.	Q	201;201;200;201	ENSP00000356045:E201Q;ENSP00000243611:E201Q;ENSP00000356043:E200Q;ENSP00000375790:E201Q	ENSP00000243611:E201Q	E	+	1	0	C4BPB	205338215	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.263000	0.18478	0.998000	0.38996	0.655000	0.94253	GAG	-	NULL		0.517	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	protein_coding	OTTHUMT00000087847.2	G	NM_000716	-		207271592	1	no_errors	ENST00000243611	ensembl	human	known	74_37	missense	SNP	0.001	C	C	207271592	G	C	207271592	3	2	84	1	0	0	0	0	1	0	0	0	2252	943	33	4	619	4	C4BPB	1	207271592	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	33745045	207271592	41979029	8	4714											
ANGEL2	90806	genome.wustl.edu	37	chr1	213186627	213186627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actactgaagtatgggtaagGagctcgagagtaatgtccag	13	6	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:213186627G>T	ENST00000366962.3	-	2	347	c.193C>A	c.(193-195)Cct>Act	p.P65T	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	65										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATGGGTAAGGAGCTCGAGAG	0.463																																																	0								ENSG00000174606						157	151	153					1																	213186627		2203	4300	6503	ANGEL2	SO:0001583	missense	0			-	HGNC	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.193C>A	1.37:g.213186627G>T	ENSP00000355929:p.Pro65Thr	Somatic	0	76	0		0.608108911283498	32	11.11	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	74	40.80	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.P65T	ENST00000366962.3	37	c.193	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417248	0.42918	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.23552	1.9	5.53	5.53	0.82687	.	0.131051	0.51477	D	0.000087	T	0.29620	0.0739	L	0.32530	0.975	0.80722	D	1	D;P	0.56521	0.976;0.91	P;B	0.52481	0.7;0.335	T	0.00651	-1.1626	10	0.41790	T	0.15	-16.9548	12.6382	0.56694	0.1192:0.0:0.8808:0.0	.	43;65	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	T	65;43	ENSP00000355929:P65T	ENSP00000309755:P43T	P	-	1	0	ANGEL2	211253250	0.999000	0.42202	0.713000	0.30519	0.720000	0.41350	3.108000	0.50337	2.745000	0.94114	0.563000	0.77884	CCT	-	NULL		0.463	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	protein_coding	OTTHUMT00000089693.1	G	NM_144567	-		213186627	-1	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	SNP	0.993	T	T	213186627	G	T	213186627	3	4	84	1	0	0	0	0	1	0	0	0	609	1174	41	3	1473	3	ANGEL2	1	213186627	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	5915035	213186627	36063994	9	4715											
ENAH	55740	genome.wustl.edu	37	chr1	225707034	225707051	+	In_Frame_Del	DEL	TCCAGGCGTTCCTGCCGC	TCCAGGCGTTCCTGCCGC	-													gtctttcttgcctctcccgaTccaggcgttcctgccgctcc					rs148381397|rs566336314|rs71170086|rs140432837|rs372263028	byFrequency	TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	TCCAGGCGTTCCTGCCGC	TCCAGGCGTTCCTGCCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:225707034_225707051delTCCAGGCGTTCCTGCCGC	ENST00000366844.3	-	5	1102_1119	c.651_668delGCGGCAGGAACGCCTGGA	c.(649-669)gagcggcaggaacgcctggat>gat	p.ERQERL217del	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_In_Frame_Del_p.ERQERL236del|ENAH_ENST00000366843.2_In_Frame_Del_p.ERQERL217del	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	217					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CCTCTCCCGATCCAGGcgttcctgccgctccaggcgtt	0.592																																																	0								ENSG00000154380																																			ENAH	SO:0001651	inframe_deletion	0				HGNC	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.651_668delGCGGCAGGAACGCCTGGA	1.37:g.225707034_225707051delTCCAGGCGTTCCTGCCGC	ENSP00000355809:p.Glu217_Leu222del	Somatic					0.608108911283498	307	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	In_Frame_Del	DEL							pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.ERQERL217in_frame_del	ENST00000366844.3	37	c.668_651	CCDS31041.1	1																																																																																			-	NULL		0.592	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	protein_coding	OTTHUMT00000357426.2	TCCAGGCGTTCCTGCCGC	NM_018212			225707051	-1	no_errors	ENST00000366844	ensembl	human	known	74_37	in_frame_del	DEL	0.907:0.905:0.902:0.900:0.899:0.898:0.897:0.897:0.897:0.898:0.899:0.901:0.903:0.906:0.909:0.913:0.917:0.921	-	-	225707051	TCCAGGCGTTCCTGCCGC	-	225707034	7	5	84	1	0	1	0	1	0	0	0	0	5113	1435	50	0	1151	0	ENAH	1	225707034	In_Frame_Del	DEL	TCCAGGCGTTCCTGCCGC	TCGA-DX-A7EI-01A-11D-A33E-09	12520407	225707034	23543587	10	4716											
CNST	163882	genome.wustl.edu	37	chr1	246810848	246810848	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacctcctgcattgatttctGagggtaaatattcacaggct	8	9	2	2	rs145092607		TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr1:246810848G>C	ENST00000366513.4	+	9	1614	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.E449Q	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	449					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ATTGATTTCTGAGGGTAAATA	0.473											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162852						154	166	162					1																	246810848		2203	4300	6503	CNST	SO:0001583	missense	0			-	HGNC	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1345G>C	1.37:g.246810848G>C	ENSP00000355470:p.Glu449Gln	Somatic	0	42	0	2468	0.608108911283498	30	3.23	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	73	20.65	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP							NULL	p.E449Q	ENST00000366513.4	37	c.1345	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270801	0.40194	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.19938	2.14;2.11	5.19	3.32	0.38043	.	0.600262	0.16751	N	0.201043	T	0.28928	0.0718	M	0.72894	2.215	0.09310	N	0.999998	P;D	0.56746	0.873;0.977	B;P	0.51016	0.382;0.656	T	0.16188	-1.0411	10	0.49607	T	0.09	-9.0811	4.2874	0.10862	0.2832:0.0:0.5607:0.1561	.	449;449	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	Q	449	ENSP00000355470:E449Q;ENSP00000355469:E449Q	ENSP00000355469:E449Q	E	+	1	0	CNST	244877471	0.004000	0.15560	0.215000	0.23724	0.622000	0.37654	1.225000	0.32551	0.697000	0.31718	0.467000	0.42956	GAG	-	NULL		0.473	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	protein_coding	OTTHUMT00000096780.1	G	NM_152609	-		246810848	1	no_errors	ENST00000366513	ensembl	human	known	74_37	missense	SNP	0.012	C	C	246810848	G	C	246810848	3	2	84	1	0	0	0	0	1	0	0	0	3636	1291	45	4	1375	4	CNST	1	246810848	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	21103814	246810848	2439773	11	4717											
GYPC	2995	genome.wustl.edu	37	chr2	127453545	127453545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgctgctgtggccatcGtcctagtctccctcctcttc	8	15	2	1	rs200879714		TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr2:127453545G>A	ENST00000259254.4	+	4	545	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	GYPC_ENST00000409836.3_Missense_Mutation_p.V53I|GYPC_ENST00000356887.7_Missense_Mutation_p.V51I|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	72						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TGTGGCCATCGTCCTAGTCTC	0.607																																					Melanoma(110;806 1600 6704 9981 33404)												0								ENSG00000136732	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	196	153	167		214,157	2.4	0.3	2		167	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	GYPC	NM_002101.3,NM_016815.2	29,29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	72/129,53/110	127453545	3,13003	2203	4300	6503	GYPC	SO:0001583	missense	0			-	HGNC		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"CD molecules", "Blood group antigens"	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.214G>A	2.37:g.127453545G>A	ENSP00000259254:p.Val72Ile	Somatic	0	24	0		0.608108911283498	103	53.6	119	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	9	64.29	B2R522|Q53SV9|Q92642	Missense_Mutation	SNP							smart_Neurexin-like	p.V72I	ENST00000259254.4	37	c.214	CCDS2136.1	2	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666058	0.29604	0.0	3.49E-4	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.17854	2.7;2.25;2.74	5.22	2.41	0.29592	.	.	.	.	.	T	0.11067	0.0270	L	0.47190	1.495	0.31909	N	0.6149	P;P	0.47545	0.597;0.897	B;B	0.31290	0.041;0.127	T	0.18840	-1.0324	9	0.44086	T	0.13	-5.7083	6.9613	0.24599	0.1526:0.0:0.7071:0.1403	.	51;72	P04921-2;P04921	.;GLPC_HUMAN	I	72;51;53	ENSP00000259254:V72I;ENSP00000349354:V51I;ENSP00000386904:V53I	ENSP00000259254:V72I	V	+	1	0	GYPC	127170015	0.995000	0.38212	0.285000	0.24819	0.020000	0.10135	2.361000	0.44160	0.201000	0.20466	0.561000	0.74099	GTC	-	NULL		0.607	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYPC	protein_coding	OTTHUMT00000254297.1	G	NM_002101	rs200879714		127453545	1	no_errors	ENST00000259254	ensembl	human	known	74_37	missense	SNP	0.965	A	A	127453545	G	A	127453545	3	1	84	1	0	0	0	0	1	0	0	0	6912	1145	40	1	228	1	GYPC	2	127453545	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		127453545	115745828	12	4718											
TUBA3E	112714	genome.wustl.edu	37	chr2	130951829	130951829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggcacagtcagaatgttCcagggtcgtgtgggtggtta	16	6	1	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr2:130951829C>T	ENST00000312988.7	-	4	686	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	196					microtubule-based process (GO:0007017)|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)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCAGAATGTTCCAGGGTCGTG	0.537																																																	0								ENSG00000152086						101	101	101					2																	130951829		2200	4291	6491	TUBA3E	SO:0001583	missense	0			-	HGNC	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.586G>A	2.37:g.130951829C>T	ENSP00000318197:p.Glu196Lys	Somatic	0	103	0		0.608108911283498	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	46	52.53		Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.E196K	ENST00000312988.7	37	c.586	CCDS2158.1	2	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980416	0.53827	.	.	ENSG00000152086	ENST00000312988	T	0.70282	-0.47	2.71	2.71	0.32032	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.50627	U	0.000114	D	0.85004	0.5598	H	0.95224	3.64	0.48696	D	0.999694	P	0.35656	0.514	P	0.50970	0.655	D	0.87893	0.2685	10	0.87932	D	0	.	11.1953	0.48709	0.0:1.0:0.0:0.0	.	196	Q6PEY2	TBA3E_HUMAN	K	196	ENSP00000318197:E196K	ENSP00000318197:E196K	E	-	1	0	TUBA3E	130668299	1.000000	0.71417	0.980000	0.43619	0.880000	0.50808	6.636000	0.74299	1.540000	0.49301	0.449000	0.29647	GAA	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin		0.537	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	protein_coding	OTTHUMT00000254519.1	C	NM_207312	-		130951829	-1	no_errors	ENST00000312988	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130951829	C	T	130951829	3	4	84	1	0	0	0	0	1	0	0	0	16755	864	30	2	774	2	TUBA3E	2	130951829	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	3498284	130951829	112247544	13	4719											
MARCH7	64844	genome.wustl.edu	37	chr2	160605149	160605149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccaacagaccacaaGcatctgcagcatcaagcagt	8	14	2	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr2:160605149G>A	ENST00000259050.4	+	5	1470	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	MARCH7_ENST00000409175.1_Missense_Mutation_p.A450T|MARCH7_ENST00000539065.1_Missense_Mutation_p.A394T|MARCH7_ENST00000409591.1_Missense_Mutation_p.A412T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	450					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CAGACCACAAGCATCTGCAGC	0.443																																																	0								ENSG00000136536						107	111	109					2																	160605149		2203	4300	6503	MARCH7	SO:0001583	missense	0			-	HGNC	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1348G>A	2.37:g.160605149G>A	ENSP00000259050:p.Ala450Thr	Somatic	0	44	0		0.608108911283498	76	1.3	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.A450T	ENST00000259050.4	37	c.1348	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	G	7.508	0.654111	0.14580	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.11712	2.76;2.75;2.76;2.75	5.59	3.49	0.39957	.	0.313741	0.33732	N	0.004603	T	0.03095	0.0091	N	0.04880	-0.145	0.25146	N	0.99046	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.0	T	0.43048	-0.9415	10	0.02654	T	1	-13.2385	0.9041	0.01281	0.1587:0.2451:0.346:0.2501	.	394;412;450	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	T	450;394;450;412	ENSP00000386830:A450T;ENSP00000442992:A394T;ENSP00000259050:A450T;ENSP00000387238:A412T	ENSP00000259050:A450T	A	+	1	0	MARCH7	160313395	0.889000	0.30405	1.000000	0.80357	0.995000	0.86356	1.133000	0.31430	1.305000	0.44909	0.655000	0.94253	GCA	-	NULL		0.443	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	protein_coding	OTTHUMT00000255040.3	G	NM_022826	-		160605149	1	no_errors	ENST00000259050	ensembl	human	known	74_37	missense	SNP	1.000	A	A	160605149	G	A	160605149	3	1	84	1	0	0	0	0	1	0	0	0	9308	971	34	2	1362	2	MARCH7	2	160605149	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	29653320	160605149	82594224	14	4720											
ORC2L	4999	genome.wustl.edu	37	chr2	201778717	201778717	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtagcctgaaaattccccTaaaaaaaaaaaaaaacagga	5	7	0	1	rs200066674|rs201460825	byFrequency	TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr2:201778717T>A	ENST00000234296.2	-	16	1716		c.e16-2			NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AAAATTCCCCTAAAAAAAAAA	0.289																																																	0								ENSG00000115942						33	34	34					2																	201778717		2201	4300	6501	ORC2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1467-2A>T	2.37:g.201778717T>A		Somatic	1	120	0.76		0.608108911283498	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	123	9.15	Q13204|Q53TX5	Splice_Site	SNP							-	e14-2	ENST00000234296.2	37	c.1467-2	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631382	0.67015	.	.	ENSG00000115942	ENST00000234296	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0919	0.72201	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ORC2	201486962	1.000000	0.71417	0.982000	0.44146	0.760000	0.43138	7.328000	0.79160	1.949000	0.56562	0.533000	0.62120	.	-	-		0.289	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	protein_coding	OTTHUMT00000256191.2	T	NM_006190	-	Intron	201778717	-1	no_errors	ENST00000234296	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	201778717	T	A	201778717	5	1	84	1	0	0	0	0	0	0	1	0	11264	1536	53	5	280	5	ORC2L	2	201778717	Splice_Site	SNP	T	TCGA-DX-A7EI-01A-11D-A33E-09	41173568	201778717	41420656	15	4721											
STK36	27148	genome.wustl.edu	37	chr2	219562254	219562254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagttatgcctgagctgcCtgtcccagcatggaagtatc	10	13	0	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr2:219562254C>A	ENST00000295709.3	+	24	3109	c.2830C>A	c.(2830-2832)Ctg>Atg	p.L944M	STK36_ENST00000440309.1_Missense_Mutation_p.L944M|STK36_ENST00000392106.2_Missense_Mutation_p.L923M|STK36_ENST00000392105.3_Missense_Mutation_p.L923M	NM_015690.4	NP_056505.2			serine/threonine kinase 36											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)		CCTGAGCTGCCTGTCCCAGCA	0.552																																																	0								ENSG00000163482						75	68	70					2																	219562254		2203	4300	6503	STK36	SO:0001583	missense	0			-	HGNC	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.2830C>A	2.37:g.219562254C>A	ENSP00000295709:p.Leu944Met	Somatic	0	30	0		0.608108911283498	32	3.03	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L944M	ENST00000295709.3	37	c.2830	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947042	0.53186	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.79554	-1.25;-1.27;-1.28;-1.25	5.24	2.27	0.28462	.	0.000000	0.33057	N	0.005323	T	0.80166	0.4573	L	0.32530	0.975	0.37569	D	0.919375	D;P;P	0.76494	0.999;0.949;0.915	D;P;P	0.83275	0.996;0.712;0.519	T	0.77624	-0.2518	10	0.36615	T	0.2	-2.9825	5.476	0.16695	0.1444:0.6054:0.0:0.2502	.	923;923;944	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	M	944;923;923;944	ENSP00000295709:L944M;ENSP00000375955:L923M;ENSP00000375954:L923M;ENSP00000394095:L944M	ENSP00000295709:L944M	L	+	1	2	STK36	219270498	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.947000	0.29082	0.792000	0.33850	0.655000	0.94253	CTG	-	NULL		0.552	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	protein_coding	OTTHUMT00000256723.2	C		-		219562254	1	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	SNP	0.998	A	A	219562254	C	A	219562254	3	1	84	1	0	0	0	0	1	0	0	0	15309	680	24	3	2920	3	STK36	2	219562254	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	17783537	219562254	23637119	16	4722											
IL17RD	54756	genome.wustl.edu	37	chr3	57132322	57132322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgataaacttgctgagcgccGcggacgaactctgcttggcc	12	13	1	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr3:57132322G>A	ENST00000296318.7	-	12	1497	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	IL17RD_ENST00000427856.2_Missense_Mutation_p.A446V|IL17RD_ENST00000463523.1_Missense_Mutation_p.A326V|IL17RD_ENST00000320057.5_Missense_Mutation_p.A326V	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	470	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				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)		GCTGAGCGCCGCGGACGAACT	0.572																																																	0								ENSG00000144730						47	47	47					3																	57132322		2203	4300	6503	IL17RD	SO:0001583	missense	0			-	HGNC	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.1409C>T	3.37:g.57132322G>A	ENSP00000296318:p.Ala470Val	Somatic	0	27	0		0.608108911283498	7	56.25	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP							pfam_SEFIR,superfamily_TIR_dom	p.A470V	ENST00000296318.7	37	c.1409	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326816	0.24080	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.54	2.39	0.29439	SEFIR (1);	0.902169	0.09720	N	0.764573	T	0.22360	0.0539	L	0.36672	1.1	0.09310	N	1	B;B;B	0.32543	0.375;0.142;0.324	B;B;B	0.28849	0.095;0.059;0.035	T	0.18053	-1.0349	10	0.46703	T	0.11	-0.1845	6.7638	0.23556	0.0:0.2382:0.3831:0.3787	.	326;470;446	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	V	470;326;446;326	ENSP00000296318:A470V;ENSP00000322250:A326V;ENSP00000399209:A446V;ENSP00000417516:A326V	ENSP00000296318:A470V	A	-	2	0	IL17RD	57107362	0.000000	0.05858	0.001000	0.08648	0.215000	0.24574	-0.446000	0.06837	0.660000	0.30964	0.655000	0.94253	GCG	-	pfam_SEFIR		0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	protein_coding	OTTHUMT00000316680.1	G	NM_017563	-		57132322	-1	no_errors	ENST00000296318	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57132322	G	A	57132322	3	1	84	1	0	0	0	0	1	0	0	0	7644	1087	38	1	818	1	IL17RD	3	57132322	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		57132322	140890108	17	4723											
CWH43	80157	genome.wustl.edu	37	chr4	49005809	49005809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgggcagctgctgtgtctgGctgtgtcttcgccatcttta	12	10	3	0			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr4:49005809G>C	ENST00000226432.4	+	7	1043	c.860G>C	c.(859-861)gGc>gCc	p.G287A	CWH43_ENST00000513409.1_Missense_Mutation_p.G260A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	287					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTGGCTGTGTCTTC	0.512																																																	0								ENSG00000109182						98	86	90					4																	49005809		2203	4300	6503	CWH43	SO:0001583	missense	0			-	HGNC		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.860G>C	4.37:g.49005809G>C	ENSP00000226432:p.Gly287Ala	Somatic	0	36	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	1	94.12	B2RPD7	Missense_Mutation	SNP							superfamily_Endo/exonuclease/phosphatase	p.G287A	ENST00000226432.4	37	c.860	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509949	0.27036	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.55760	1.11;0.5	3.91	3.91	0.45181	.	0.000000	0.53938	D	0.000045	T	0.70072	0.3182	M	0.69823	2.125	0.35890	D	0.829639	D	0.89917	1.0	D	0.91635	0.999	T	0.76793	-0.2828	9	.	.	.	.	15.3556	0.74425	0.0:0.0:1.0:0.0	.	287	Q9H720	PG2IP_HUMAN	A	287;260	ENSP00000226432:G287A;ENSP00000422802:G260A	.	G	+	2	0	CWH43	48700566	1.000000	0.71417	0.158000	0.22627	0.006000	0.05464	5.830000	0.69324	2.480000	0.83734	0.591000	0.81541	GGC	-	NULL		0.512	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	protein_coding	OTTHUMT00000250496.2	G	NM_025087	-		49005809	1	no_errors	ENST00000226432	ensembl	human	known	74_37	missense	SNP	0.574	C	C	49005809	G	C	49005809	3	2	84	1	0	0	0	0	1	0	0	0	4075	1203	42	4	886	4	CWH43	4	49005809	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		49005809	142148467	18	4724											
UGT8	7368	genome.wustl.edu	37	chr4	115544435	115544435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaaagaaaaatttgaCctgctgctggtggaccctaa	10	8	0	4			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr4:115544435C>A	ENST00000310836.6	+	2	921	c.399C>A	c.(397-399)gaC>gaA	p.D133E	UGT8_ENST00000394511.3_Missense_Mutation_p.D133E	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	133					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAAAATTTGACCTGCTGCTGG	0.428																																																	0								ENSG00000174607						159	159	159					4																	115544435		2203	4300	6503	UGT8	SO:0001583	missense	0			-	HGNC	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.399C>A	4.37:g.115544435C>A	ENSP00000311648:p.Asp133Glu	Somatic	0	48	0		0.608108911283498	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B3KXU7|O00196	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D133E	ENST00000310836.6	37	c.399	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316113	0.60524	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.12147	2.71;2.71;2.71	5.19	2.5	0.30297	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.75884	2.315	0.58432	D	0.999995	D	0.61080	0.989	D	0.70716	0.97	T	0.02983	-1.1086	10	0.59425	D	0.04	.	9.5206	0.39133	0.0:0.711:0.0:0.289	.	133	Q16880	CGT_HUMAN	E	133	ENSP00000311648:D133E;ENSP00000421446:D133E;ENSP00000378019:D133E	ENSP00000311648:D133E	D	+	3	2	UGT8	115763884	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.640000	0.37186	0.702000	0.31825	-0.143000	0.13931	GAC	-	pfam_UDP_glucos_trans		0.428	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	protein_coding	OTTHUMT00000256426.2	C	NM_003360	-		115544435	1	no_errors	ENST00000310836	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115544435	C	A	115544435	3	1	84	1	0	0	0	0	1	0	0	0	16972	506	18	3	401	3	UGT8	4	115544435	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	66538626	115544435	75609841	19	4725											
APC	324	genome.wustl.edu	37	chr5	112175084	112175084	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatacagacttattgtgtaGaagatactccaatatgtttt	6	6	0	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr5:112175084G>T	ENST00000457016.1	+	16	4173	c.3793G>T	c.(3793-3795)Gaa>Taa	p.E1265*	APC_ENST00000508376.2_Nonsense_Mutation_p.E1265*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1265*			P25054	APC_HUMAN	adenomatous polyposis coli	1265	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1265*(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTATTGTGTAGAAGATACTCC	0.383		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	3	Substitution - Nonsense(1)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)						ENSG00000134982						53	55	55					5																	112175084		2202	4300	6502	APC	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	-	HGNC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3793G>T	5.37:g.112175084G>T	ENSP00000413133:p.Glu1265*	Somatic	0	31	0		0.608108911283498	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	2	91.67	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP							pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E1265*	ENST00000457016.1	37	c.3793	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.023727	0.98616	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.7007	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	1265	.	.	E	+	1	0	APC	112202983	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAA	-	pfam_APC_Cys-rich_rpt		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	G	NM_000038	-		112175084	1	no_errors	ENST00000257430	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	112175084	G	T	112175084	4	4	84	1	0	0	0	0	0	1	0	0	763	943	33	3	3851	3	APC	5	112175084	Nonsense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		112175084	68740176	20	4726											
RANBP17	64901	genome.wustl.edu	37	chr5	170632550	170632550	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatgttgatcgggctggcaaGagatcttcgagggattgcct	14	7	1	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr5:170632550G>C	ENST00000523189.1	+	20	2329	c.2165G>C	c.(2164-2166)aGa>aCa	p.R722T	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	722					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCTGGCAAGAGATCTTCGA	0.448			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0								ENSG00000204764						196	166	176					5																	170632550		2203	4300	6503	RANBP17	SO:0001583	missense	0			-	HGNC	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2165G>C	5.37:g.170632550G>C	ENSP00000427975:p.Arg722Thr	Somatic	0	60	0		0.608108911283498	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	96	15.04	Q8IU74	Missense_Mutation	SNP							pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R722T	ENST00000523189.1	37	c.2165	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470959	0.84533	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.67698	-0.28	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.87059	0.6083	M	0.93808	3.46	0.53005	D	0.999964	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.74674	0.979;0.984;0.979	D	0.88511	0.3089	10	0.54805	T	0.06	-14.8189	20.017	0.97481	0.0:0.0:1.0:0.0	.	722;47;722	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	T	722;152	ENSP00000427975:R722T	ENSP00000427975:R722T	R	+	2	0	RANBP17	170565155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.428000	0.90278	2.832000	0.97577	0.655000	0.94253	AGA	-	superfamily_ARM-type_fold		0.448	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	protein_coding	OTTHUMT00000372036.1	G	NM_022897	-		170632550	1	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	SNP	1.000	C	C	170632550	G	C	170632550	3	2	84	1	0	0	0	0	1	0	0	0	13035	942	33	4	2243	4	RANBP17	5	170632550	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	58457466	170632550	10282710	21	4727											
MXD3	83463	genome.wustl.edu	37	chr5	176734831	176734831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgaggagtccagactGtccgcccgcagccgctcccg	13	17	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr5:176734831G>A	ENST00000439742.2	-	5	934	c.456C>T	c.(454-456)gaC>gaT	p.D152D	MXD3_ENST00000513063.1_Silent_p.D152D|MXD3_ENST00000423571.2_Silent_p.D152D|MXD3_ENST00000427908.2_Silent_p.D152D	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	152					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCCAGACTGTCCGCCCGCA	0.706																																																	0								ENSG00000213347						14	15	15					5																	176734831		2189	4283	6472	MXD3	SO:0001819	synonymous_variant	0			-	HGNC	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.456C>T	5.37:g.176734831G>A		Somatic	0	28	0		0.608108911283498	149	25.85	53	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51	B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.D152	ENST00000439742.2	37	c.456	CCDS4416.1	5																																																																																			-	NULL		0.706	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD3	protein_coding	OTTHUMT00000253427.1	G		-		176734831	-1	no_errors	ENST00000439742	ensembl	human	known	74_37	silent	SNP	1.000	A	A	176734831	G	A	176734831	2	1	84	1	0	0	0	0	0	0	0	1	10002	1368	48	2		2	MXD3	5	176734831	Silent	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	6102281	176734831	4180429	22	4728											
BAT5	7920	genome.wustl.edu	37	chr6	31661170	31661170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagtggaagtcgactgGccagctccggaagtcaaagt	12	11	1	0			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr6:31661170G>A	ENST00000395952.3	-	6	631	c.469C>T	c.(469-471)Cca>Tca	p.P157S	ABHD16A_ENST00000538874.1_Silent_p.G58G|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P124S|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	157						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AAGTCGACTGGCCAGCTCCGG	0.567																																																	0								ENSG00000204427						43	43	43					6																	31661170		1510	2708	4218	ABHD16A	SO:0001583	missense	0			-	HGNC	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.469C>T	6.37:g.31661170G>A	ENSP00000379282:p.Pro157Ser	Somatic	0	59	0		0.608108911283498	46	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP							pfam_AB_hydrolase_1	p.P157S	ENST00000395952.3	37	c.469	CCDS4713.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224544	0.79576	.	.	ENSG00000204427	ENST00000395952;ENST00000440843	.	.	.	5.63	5.63	0.86233	.	0.055492	0.64402	D	0.000001	T	0.75729	0.3889	M	0.81497	2.545	0.80722	D	1	D;D	0.71674	0.998;0.965	D;P	0.64776	0.929;0.656	T	0.79024	-0.1972	9	0.87932	D	0	-9.6894	17.1851	0.86865	0.0:0.0:1.0:0.0	.	124;157	B7Z4R6;O95870	.;ABHGA_HUMAN	S	157;124	.	ENSP00000379282:P157S	P	-	1	0	ABHD16A	31769149	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	7.990000	0.88215	2.654000	0.90174	0.561000	0.74099	CCA	-	NULL		0.567	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16A	protein_coding	OTTHUMT00000076342.4	G		-		31661170	-1	no_errors	ENST00000395952	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31661170	G	A	31661170	3	1	84	1	0	0	0	0	1	0	0	0	1324	1203	42	2	1267	2	BAT5	6	31661170	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		31661170	139453897	23	4729											
CYP39A1	51302	genome.wustl.edu	37	chr6	46518104	46518104	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgaggcccaacagatgtCatattctttgtttatattca	7	7	3	2	rs200048080		TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr6:46518104C>T	ENST00000275016.2	-	12	1612	c.1409G>A	c.(1408-1410)tGa>tAa	p.*470*		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	0					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAACAGATGTCATATTCTTTG	0.478																																																	0								ENSG00000146233						130	136	134					6																	46518104		2203	4300	6503	CYP39A1	SO:0001819	synonymous_variant	0			-	HGNC	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1409G>A	6.37:g.46518104C>T		Somatic	0	47	0		0.608108911283498	20	80.95	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	202	30	86.70	Q5VTT0|Q96FW5	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.*470	ENST00000275016.2	37	c.1409	CCDS4916.1	6																																																																																			-	NULL		0.478	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	protein_coding	OTTHUMT00000040787.1	C		-		46518104	-1	no_errors	ENST00000275016	ensembl	human	known	74_37	silent	SNP	0.929	T	T	46518104	C	T	46518104	2	4	84	1	0	0	0	0	0	0	0	1	4179	837	29	2		2	CYP39A1	6	46518104	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	14856934	46518104	124596963	24	4730											
SYNE1	23345	genome.wustl.edu	37	chr6	152473241	152473241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgttgatcagttccagCtgcgtcaggcactcgtggac	12	11	2	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr6:152473241C>T	ENST00000367255.5	-	134	24766	c.24165G>A	c.(24163-24165)caG>caA	p.Q8055Q	SYNE1_ENST00000423061.1_Silent_p.Q7984Q|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.Q7984Q|SYNE1_ENST00000354674.4_Silent_p.Q210Q|SYNE1_ENST00000539504.1_Silent_p.Q210Q|SYNE1_ENST00000356820.4_Silent_p.Q2579Q|SYNE1_ENST00000341594.5_Silent_p.Q7667Q|SYNE1_ENST00000265368.4_Silent_p.Q8055Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8055					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)		TCAGTTCCAGCTGCGTCAGGC	0.547										HNSCC(10;0.0054)																																							0								ENSG00000131018						95	80	85					6																	152473241		2203	4300	6503	SYNE1	SO:0001819	synonymous_variant	0			-	HGNC	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.24165G>A	6.37:g.152473241C>T		Somatic	0	46	0		0.608108911283498	26	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q8055	ENST00000367255.5	37	c.24165	CCDS5236.2	6																																																																																			-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	C	NM_182961	-		152473241	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	SNP	1.000	T	T	152473241	C	T	152473241	2	4	84	1	0	0	0	0	0	0	0	1	15452	796	28	2		2	SYNE1	6	152473241	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	105955137	152473241	18641826	25	4731											
TCTE3	6991	genome.wustl.edu	37	chr6	170144314	170144314	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcatcaaaaggaggctcCacatactgaacattgtgaat	9	8	2	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr6:170144314C>A	ENST00000366774.3	-	2	277	c.177G>T	c.(175-177)gtG>gtT	p.V59V		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	59					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			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)		AAGGAGGCTCCACATACTGAA	0.388																																																	0								ENSG00000184786						65	67	66					6																	170144314		2203	4300	6503	TCTE3	SO:0001819	synonymous_variant	0			-	HGNC	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.177G>T	6.37:g.170144314C>A		Somatic	0	39	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Silent	SNP							pfam_Tctex	p.V59	ENST00000366774.3	37	c.177	CCDS5310.1	6																																																																																			-	NULL		0.388	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	protein_coding	OTTHUMT00000043243.1	C	NM_174910	-		170144314	-1	no_errors	ENST00000366774	ensembl	human	known	74_37	silent	SNP	0.329	A	A	170144314	C	A	170144314	2	1	84	1	0	0	0	0	0	0	0	1	15725	581	21	3		3	TCTE3	6	170144314	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	17671073	170144314	970753	26	4732											
CCDC132	55610	genome.wustl.edu	37	chr7	92985322	92985322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccattcctgataaagaatTtgtagaaacttatattaaag	5	6	0	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr7:92985322T>G	ENST00000305866.5	+	27	2833	c.2705T>G	c.(2704-2706)tTt>tGt	p.F902C	CCDC132_ENST00000544910.1_Missense_Mutation_p.F872C|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.F622C|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	902						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATAAAGAATTTGTAGAAACT	0.348																																																	0								ENSG00000004766						46	45	45					7																	92985322		1822	4075	5897	CCDC132	SO:0001583	missense	0			-	HGNC	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2705T>G	7.37:g.92985322T>G	ENSP00000307666:p.Phe902Cys	Somatic	0	66	0		0.608108911283498	14	48.28	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	31	59.74	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP							pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.F902C	ENST00000305866.5	37	c.2705	CCDS43617.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.76|18.76	3.693077|3.693077	0.68271|0.68271	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481|ENST00000443443	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Protein of unknown function DUF2451, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68805|0.68805	0.3041|0.3041	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.997;0.997;0.999|.	D;P;D|.	0.70487|.	0.944;0.906;0.969|.	T|T	0.66031|0.66031	-0.6024|-0.6024	9|5	0.87932|.	D|.	0|.	-22.0032|-22.0032	16.4116|16.4116	0.83717|0.83717	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	622;872;902|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	C|M	902;872;622|126	.|.	ENSP00000307666:F902C|.	F|I	+|+	2|3	0|3	CCDC132|CCDC132	92823258|92823258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.783000|0.783000	0.44284|0.44284	5.886000|5.886000	0.69743|0.69743	2.340000|2.340000	0.79590|0.79590	0.528000|0.528000	0.53228|0.53228	TTT|ATT	-	pfam_DUF2451_C		0.348	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	protein_coding	OTTHUMT00000341687.1	T	NM_017667	-		92985322	1	no_errors	ENST00000305866	ensembl	human	known	74_37	missense	SNP	1.000	G	G	92985322	T	G	92985322	3	3	84	1	0	0	0	0	1	0	0	0	2769	1841	64	5	2853	5	CCDC132	7	92985322	Missense_Mutation	SNP	T	TCGA-DX-A7EI-01A-11D-A33E-09		92985322	66153341	27	4733											
CPA1	1357	genome.wustl.edu	37	chr7	130022006	130022006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccttgtcagcaagatcCagattggcaacacctatgaa	8	12	1	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr7:130022006C>A	ENST00000011292.3	+	4	589	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59K	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	147					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCAAGATCCAGATTGGCAA	0.527																																																	0								ENSG00000091704						132	103	113					7																	130022006		2203	4300	6503	CPA1	SO:0001583	missense	0			-	HGNC		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.439C>A	7.37:g.130022006C>A	ENSP00000011292:p.Gln147Lys	Somatic	0	37	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.Q147K	ENST00000011292.3	37	c.439	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	C	0.888	-0.726491	0.03158	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.46	1.32	0.21799	Peptidase M14, carboxypeptidase A (2);	0.558393	0.20964	N	0.082509	T	0.06781	0.0173	L	0.35414	1.06	0.29477	N	0.856602	B;B	0.27264	0.003;0.173	B;B	0.29524	0.016;0.103	T	0.40757	-0.9546	10	0.02654	T	1	.	9.3035	0.37861	0.2552:0.3323:0.4125:0.0	.	59;147	B4DDW9;P15085	.;CBPA1_HUMAN	K	59;147;59;59	ENSP00000420218:Q59K;ENSP00000011292:Q147K;ENSP00000419408:Q59K;ENSP00000419497:Q59K	ENSP00000011292:Q147K	Q	+	1	0	CPA1	129809242	0.003000	0.15002	0.957000	0.39632	0.600000	0.36913	-0.091000	0.11146	-0.030000	0.13804	-0.314000	0.08810	CAG	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.527	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	protein_coding	OTTHUMT00000349736.2	C	NM_001868	-		130022006	1	no_errors	ENST00000011292	ensembl	human	known	74_37	missense	SNP	0.696	A	A	130022006	C	A	130022006	3	1	84	1	0	0	0	0	1	0	0	0	3791	595	21	3	453	3	CPA1	7	130022006	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	37036684	130022006	29116657	28	4734											
MPDZ	8777	genome.wustl.edu	37	chr9	13121767	13121767	+	Frame_Shift_Del	DEL	T	T	-													acaatacttaatcctaggccTtttcccggcttcttctgcag							TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr9:13121767delT	ENST00000319217.7	-	38	5449	c.5202delA	c.(5200-5202)aaafs	p.K1734fs	MPDZ_ENST00000541718.1_Frame_Shift_Del_p.K1734fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.K1701fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.K1748fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.K1734fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.K1734fs|MPDZ_ENST00000447879.1_Frame_Shift_Del_p.K1701fs|MPDZ_ENST00000538841.1_Frame_Shift_Del_p.K593fs|MPDZ_ENST00000541093.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1734	PDZ 11. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		ATCCTAGGCCTTTTCCCGGCT	0.453																																																	0								ENSG00000107186						117	112	114					9																	13121767		1934	4151	6085	MPDZ	SO:0001589	frameshift_variant	0				HGNC	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.5202delA	9.37:g.13121767delT	ENSP00000320006:p.Lys1734fs	Somatic	0	43	0		0.608108911283498	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Del	DEL							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.G1735fs	ENST00000319217.7	37	c.5202		9																																																																																			-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.453	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	T	NM_003829			13121767	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	13121767	T	-	13121767	7	5	84	1	0	1	0	1	0	0	0	0	9724	1606	56	0	959	0	MPDZ	9	13121767	Frame_Shift_Del	DEL	T	TCGA-DX-A7EI-01A-11D-A33E-09		13121767	128091664	29	4735											
FLJ46321	389763	genome.wustl.edu	37	chr9	84609274	84609274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaacagagtgagtcctGtgagacccaaaggaggagag	14	7	0	4			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr9:84609274G>A	ENST00000344803.2	+	4	3936	c.3889G>A	c.(3889-3891)Gtg>Atg	p.V1297M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1297					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGTGAGTCCTGTGAGACCCAA	0.537																																																	0								ENSG00000214929						38	39	38					9																	84609274		1942	4144	6086	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3889G>A	9.37:g.84609274G>A	ENSP00000341988:p.Val1297Met	Somatic	0	40	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	35	54.55		Missense_Mutation	SNP							NULL	p.V1297M	ENST00000344803.2	37	c.3889	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	2.989	-0.208565	0.06140	.	.	ENSG00000214929	ENST00000344803	T	0.04917	3.53	3.19	-3.54	0.04653	.	1.800120	0.03998	U	0.295983	T	0.03305	0.0096	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40701	-0.9549	10	0.36615	T	0.2	1.6795	1.719	0.02908	0.1416:0.424:0.1407:0.2938	.	1297	Q6ZQQ2	F75D1_HUMAN	M	1297	ENSP00000341988:V1297M	ENSP00000341988:V1297M	V	+	1	0	FAM75D1	83799094	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.610000	0.02064	-0.861000	0.04094	-3.688000	0.00024	GTG	-	NULL		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	G	NM_001001670	-		84609274	1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.000	A	A	84609274	G	A	84609274	3	1	84	1	0	0	0	0	1	0	0	0	5934	1377	48	2	3903	2	FLJ46321	9	84609274	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	71487507	84609274	56604157	30	4736											
KCNA4	3739	genome.wustl.edu	37	chr11	30033192	30033192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaacccaccatgcccgCcagcactcagtgccatgacg	7	18	2	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr11:30033192C>A	ENST00000328224.6	-	2	2267	c.1034G>T	c.(1033-1035)gGc>gTc	p.G345V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	345					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)	ACCATGCCCGCCAGCACTCAG	0.502																																																	0								ENSG00000182255						84	77	79					11																	30033192		2032	4196	6228	KCNA4	SO:0001583	missense	0			-	HGNC	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.1034G>T	11.37:g.30033192C>A	ENSP00000328511:p.Gly345Val	Somatic	0	60	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	3	88.46		Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G345V	ENST00000328224.6	37	c.1034	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	2.212	-0.380463	0.05000	.	.	ENSG00000182255	ENST00000328224	D	0.96802	-4.13	5.43	5.43	0.79202	.	1.390190	0.04470	N	0.375789	D	0.94928	0.8360	L	0.58810	1.83	0.28796	N	0.899046	B	0.18461	0.028	B	0.11329	0.006	D	0.83950	0.0316	10	0.26408	T	0.33	.	9.8522	0.41064	0.0:0.8485:0.0:0.1515	.	345	P22459	KCNA4_HUMAN	V	345	ENSP00000328511:G345V	ENSP00000328511:G345V	G	-	2	0	KCNA4	29989768	0.995000	0.38212	0.152000	0.22495	0.033000	0.12548	3.807000	0.55591	2.554000	0.86153	0.655000	0.94253	GGC	-	NULL		0.502	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	protein_coding	OTTHUMT00000388074.2	C	NM_002233	-		30033192	-1	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	SNP	0.129	A	A	30033192	C	A	30033192	3	1	84	1	0	0	0	0	1	0	0	0	8007	739	26	3	931	3	KCNA4	11	30033192	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09		30033192	104973324	31	4737											
TPCN2	219931	genome.wustl.edu	37	chr11	68854656	68854656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggccacctaccagatgaCtgtggagctcctgttcaggt	12	11	1	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr11:68854656C>T	ENST00000294309.3	+	24	2263	c.2162C>T	c.(2161-2163)aCt>aTt	p.T721I	TPCN2_ENST00000542467.1_Missense_Mutation_p.T539I|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	721					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TACCAGATGACTGTGGAGCTC	0.657																																																	0								ENSG00000162341						41	43	42					11																	68854656		2200	4294	6494	TPCN2	SO:0001583	missense	0			-	HGNC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2162C>T	11.37:g.68854656C>T	ENSP00000294309:p.Thr721Ile	Somatic	0	72	0		0.608108911283498	91	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q9NT82	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.T721I	ENST00000294309.3	37	c.2162	CCDS8189.1	11	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860977	0.51482	.	.	ENSG00000162341	ENST00000294309;ENST00000542467	D;D	0.98090	-4.29;-4.71	4.32	3.39	0.38822	.	0.994201	0.08146	N	0.990877	D	0.97586	0.9209	M	0.71581	2.175	0.09310	N	1	P;P	0.48230	0.856;0.907	B;P	0.47744	0.282;0.556	D	0.91788	0.5441	10	0.66056	D	0.02	-9.2842	14.0797	0.64912	0.0:0.8477:0.1523:0.0	.	539;721	E7ETX0;Q8NHX9	.;TPC2_HUMAN	I	721;539	ENSP00000294309:T721I;ENSP00000445551:T539I	ENSP00000294309:T721I	T	+	2	0	TPCN2	68611232	0.147000	0.22687	0.001000	0.08648	0.262000	0.26303	3.350000	0.52224	0.928000	0.37168	0.561000	0.74099	ACT	-	NULL		0.657	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	protein_coding	OTTHUMT00000396878.2	C	NM_139075	-		68854656	1	no_errors	ENST00000294309	ensembl	human	known	74_37	missense	SNP	0.015	T	T	68854656	C	T	68854656	3	4	84	1	0	0	0	0	1	0	0	0	16403	565	20	2	2256	2	TPCN2	11	68854656	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	38821464	68854656	66151860	32	4738											
NUMA1	4926	genome.wustl.edu	37	chr11	71728741	71728741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagagggttaccttgtcctGcagggctgcgctgagctcct	14	12	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr11:71728741G>T	ENST00000393695.3	-	13	1442	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K	NUMA1_ENST00000358965.6_Missense_Mutation_p.Q371K|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.Q371K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											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						ACCTTGTCCTGCAGGGCTGCG	0.577			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0								ENSG00000137497						78	71	74					11																	71728741		2200	4293	6493	NUMA1	SO:0001583	missense	0			-	HGNC	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.1111C>A	11.37:g.71728741G>T	ENSP00000377298:p.Gln371Lys	Somatic	0	47	0		0.608108911283498	145	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Missense_Mutation	SNP							superfamily_Prefoldin	p.Q371K	ENST00000393695.3	37	c.1111	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577103	0.28092	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.48201	2.2;2.6;2.6;1.39;0.82	5.51	4.59	0.56863	.	0.278024	0.31976	N	0.006776	T	0.37461	0.1004	L	0.58101	1.795	0.26762	N	0.969982	P;B;B;B;B;B	0.40660	0.726;0.287;0.287;0.0;0.287;0.0	B;B;B;B;B;B	0.37047	0.24;0.079;0.079;0.002;0.079;0.001	T	0.27640	-1.0068	10	0.07325	T	0.83	.	10.2298	0.43247	0.0:0.1479:0.6987:0.1534	.	371;371;371;371;371;371	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	K	371	ENSP00000260051:Q371K;ENSP00000351851:Q371K;ENSP00000377298:Q371K;ENSP00000444880:Q371K;ENSP00000442936:Q371K	ENSP00000260051:Q371K	Q	-	1	0	NUMA1	71406389	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	3.725000	0.54970	1.299000	0.44798	-0.182000	0.12963	CAG	-	NULL		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	protein_coding	OTTHUMT00000395769.1	G		-		71728741	-1	no_errors	ENST00000393695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71728741	G	T	71728741	3	4	84	1	0	0	0	0	1	0	0	0	10752	1328	46	3	5296	3	NUMA1	11	71728741	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	2874085	71728741	63277775	33	4739											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18439811	18439811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccattcagctagtggaaGtacctcaaagcagcaatacg	9	10	2	0			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr12:18439811G>T	ENST00000266497.5	+	2	747	c.709G>T	c.(709-711)Gta>Tta	p.V237L	PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.V237L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V237L|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V237L|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	237					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCTAGTGGAAGTACCTCAAAG	0.289																																																	0								ENSG00000139144						47	44	45					12																	18439811		1808	4065	5873	PIK3C2G	SO:0001583	missense	0			-	HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.709G>T	12.37:g.18439811G>T	ENSP00000266497:p.Val237Leu	Somatic	0	93	0		0.608108911283498	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	50	56.52	A1L3U0	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.V237L	ENST00000266497.5	37	c.709	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698346	0.30142	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.87	2.98	0.34508	.	1.993970	0.02224	N	0.064252	T	0.29093	0.0723	N	0.17082	0.46	0.20873	N	0.99984	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.002	T	0.16100	-1.0414	10	0.18710	T	0.47	-1.3182	7.6158	0.28156	0.1158:0.0:0.8842:0.0	.	236;237;237	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	L	237	ENSP00000443850:V237L;ENSP00000404845:V237L;ENSP00000266497:V237L;ENSP00000445381:V237L	ENSP00000266497:V237L	V	+	1	0	PIK3C2G	18331078	0.989000	0.36119	0.988000	0.46212	0.754000	0.42855	2.249000	0.43169	1.231000	0.43661	0.585000	0.79938	GTA	-	NULL		0.289	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	G	NM_004570	-		18439811	1	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	SNP	0.990	T	T	18439811	G	T	18439811	3	4	84	1	0	0	0	0	1	0	0	0	11913	1029	36	3	715	3	PIK3C2G	12	18439811	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		18439811	115412084	34	4740											
BAZ2A	11176	genome.wustl.edu	37	chr12	57004285	57004285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgcccttcttgatgcGcacctctctccgccacctgc	9	18	2	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr12:57004285G>T	ENST00000551812.1	-	8	1886	c.1693C>A	c.(1693-1695)Cgc>Agc	p.R565S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R563S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R535S|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R533S	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	565	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTCTTGATGCGCACCTCTCTC	0.592																																																	0								ENSG00000076108						45	48	47					12																	57004285		2093	4229	6322	BAZ2A	SO:0001583	missense	0			-	HGNC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1693C>A	12.37:g.57004285G>T	ENSP00000446880:p.Arg565Ser	Somatic	0	35	0		0.608108911283498	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R565S	ENST00000551812.1	37	c.1693	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026829	0.75390	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000551996	D;D;D;D	0.99470	-5.96;-5.96;-5.96;-5.96	4.86	4.86	0.63082	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98264	1.0500	10	0.66056	D	0.02	.	12.3875	0.55340	0.0:0.0:0.8314:0.1686	.	563;565	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	S	535;533;565;563;220	ENSP00000368754:R535S;ENSP00000179765:R533S;ENSP00000446880:R565S;ENSP00000447941:R563S	ENSP00000179765:R533S	R	-	1	0	BAZ2A	55290552	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.906000	0.69900	2.697000	0.92050	0.591000	0.81541	CGC	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd		0.592	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	G	NM_013449	-		57004285	-1	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57004285	G	T	57004285	3	4	84	1	0	0	0	0	1	0	0	0	1331	1087	38	3	4112	3	BAZ2A	12	57004285	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	38564474	57004285	76847610	35	4741											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58022875	58022875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacagccgagggttgggcGggtgtcttatgcggatagtg	19	6	1	0	rs200510000		TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr12:58022875G>A	ENST00000341156.4	-	7	1351	c.767C>T	c.(766-768)cCg>cTg	p.P256L	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.P201L|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	256					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)			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)			AGGGTTGGGCGGGTGTCTTAT	0.577																																																	0								ENSG00000135454	G	LEU/PRO	0,4406		0,0,2203	68	63	65		767	4.3	0.8	12		65	5,8595		0,5,4295	yes	missense	B4GALNT1	NM_001478.3	98	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	256/534	58022875	5,13001	2203	4300	6503	B4GALNT1	SO:0001583	missense	0			-	HGNC	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.767C>T	12.37:g.58022875G>A	ENSP00000341562:p.Pro256Leu	Somatic	0	69	0		0.608108911283498	746	18.96	175	WXS	Illumina HiSeq 2500	Phase_IV	tier1	142	691	17.03	B4DE26|Q8N636	Missense_Mutation	SNP							pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P256L	ENST00000341156.4	37	c.767	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	12.59	1.984464	0.35036	0.0	5.81E-4	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.19105	2.17;2.22	5.23	4.34	0.51931	.	0.456770	0.22088	N	0.064790	T	0.16896	0.0406	L	0.39147	1.195	0.28489	N	0.914586	B;B	0.15473	0.013;0.006	B;B	0.10450	0.002;0.005	T	0.13602	-1.0503	10	0.21540	T	0.41	-8.1271	10.9142	0.47126	0.0888:0.0:0.9112:0.0	.	201;256	B4DE26;Q00973	.;B4GN1_HUMAN	L	256;201	ENSP00000341562:P256L;ENSP00000401601:P201L	ENSP00000341562:P256L	P	-	2	0	B4GALNT1	56309142	0.965000	0.33210	0.819000	0.32651	0.622000	0.37654	4.056000	0.57448	1.215000	0.43411	0.655000	0.94253	CCG	-	pirsf_GM2_synthase		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	rs200510000		58022875	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	SNP	0.038	A	A	58022875	G	A	58022875	3	1	84	1	0	0	0	0	1	0	0	0	1266	1116	39	1	854	1	B4GALNT1	12	58022875	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	1018590	58022875	75829020	36	4742											
MRPL42	28977	genome.wustl.edu	37	chr12	93881334	93881334	+	Frame_Shift_Del	DEL	C	C	-													acatgatcaagtgctgaaaaCcagattggaagaaaaagttg							TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr12:93881334delC	ENST00000549982.1	+	5	442	c.281delC	c.(280-282)accfs	p.T94fs	MRPL42_ENST00000552217.1_Frame_Shift_Del_p.T94fs|MRPL42_ENST00000547098.1_Frame_Shift_Del_p.T94fs|MRPL42_ENST00000548545.1_Frame_Shift_Del_p.T94fs|MRPL42_ENST00000361630.2_Frame_Shift_Del_p.T94fs|MRPL42_ENST00000393128.4_Frame_Shift_Del_p.T94fs	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	94					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GTGCTGAAAACCAGATTGGAA	0.393																																																	0								ENSG00000198015						135	122	126					12																	93881334		2203	4300	6503	MRPL42	SO:0001589	frameshift_variant	0				HGNC	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"Mitochondrial ribosomal proteins / large subunits", "Mitochondrial ribosomal proteins / small subunits"	14493	protein-coding gene	gene with protein product	"mitochondrial ribosomal protein S32"	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.281delC	12.37:g.93881334delC	ENSP00000449884:p.Thr94fs	Somatic	0	64	0		0.608108911283498	512	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	558	13.89	Q6FID1|Q96Q48|Q9P0S1	Frame_Shift_Del	DEL							pfam_Ribosomal-S32_mit	p.R95fs	ENST00000549982.1	37	c.281	CCDS9045.1	12																																																																																			-	pfam_Ribosomal-S32_mit		0.393	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL42	protein_coding	OTTHUMT00000407715.1	C	NM_014050			93881334	1	no_errors	ENST00000361630	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	93881334	C	-	93881334	7	5	84	1	0	1	0	1	0	0	0	0	9808	507	18	0	319	0	MRPL42	12	93881334	Frame_Shift_Del	DEL	C	TCGA-DX-A7EI-01A-11D-A33E-09	35858459	93881334	39970561	37	4743											
XPO4	64328	genome.wustl.edu	37	chr13	21361716	21361716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaggcctccaggcaaagCtggcaaacctccgaactcat	9	14	2	0			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr13:21361716C>T	ENST00000255305.6	-	21	3140	c.3069G>A	c.(3067-3069)caG>caA	p.Q1023Q	XPO4_ENST00000400602.2_Silent_p.Q1023Q			Q9C0E2	XPO4_HUMAN	exportin 4	1023					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCAGGCAAAGCTGGCAAACCT	0.378																																																	0								ENSG00000132953						127	125	125					13																	21361716		1898	4125	6023	XPO4	SO:0001819	synonymous_variant	0			-	HGNC	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3069G>A	13.37:g.21361716C>T		Somatic	0	34	0		0.608108911283498	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP							superfamily_ARM-type_fold	p.Q1023	ENST00000255305.6	37	c.3069	CCDS41872.1	13																																																																																			-	superfamily_ARM-type_fold		0.378	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	protein_coding	OTTHUMT00000044096.1	C	NM_022459	-		21361716	-1	no_errors	ENST00000255305	ensembl	human	known	74_37	silent	SNP	1.000	T	T	21361716	C	T	21361716	2	4	84	1	0	0	0	0	0	0	0	1	17453	796	28	2		2	XPO4	13	21361716	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09		21361716	93808162	38	4744											
FLT1	2321	genome.wustl.edu	37	chr13	29041107	29041107	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtacagctagatatttGcagctgtagaagccagtgtg	13	6	0	2	rs142924808		TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr13:29041107G>T	ENST00000282397.4	-	3	572	c.321C>A	c.(319-321)tgC>tgA	p.C107*	FLT1_ENST00000539099.1_Nonsense_Mutation_p.C107*|FLT1_ENST00000541932.1_Nonsense_Mutation_p.C107*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	107	Ig-like C2-type 1.				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)	CTAGATATTTGCAGCTGTAGA	0.373																																																	0								ENSG00000102755						175	165	169					13																	29041107		2203	4300	6503	FLT1	SO:0001587	stop_gained	0			-	HGNC	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.321C>A	13.37:g.29041107G>T	ENSP00000282397:p.Cys107*	Somatic	0	42	0		0.608108911283498	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.C107*	ENST00000282397.4	37	c.321	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.628217	0.98399	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	.	.	.	5.81	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6452	0.62277	0.0725:0.0:0.9275:0.0	.	.	.	.	X	107	.	ENSP00000282397:C107X	C	-	3	2	FLT1	27939107	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.100000	0.50275	1.436000	0.47453	0.650000	0.86243	TGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	protein_coding	OTTHUMT00000044322.1	G		-		29041107	-1	no_errors	ENST00000282397	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	29041107	G	T	29041107	4	4	84	1	0	0	0	0	0	1	0	0	5943	1311	46	3	4070	3	FLT1	13	29041107	Nonsense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	7679391	29041107	86128771	39	4745											
HERC2	8924	genome.wustl.edu	37	chr15	28391408	28391408	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcacggagacgatcctgttGacgccgtccatgactgtgag	13	12	0	4			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr15:28391408G>T	ENST00000261609.7	-	71	11091	c.10983C>A	c.(10981-10983)gtC>gtA	p.V3661V		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)		CGATCCTGTTGACGCCGTCCA	0.567																																																	0								ENSG00000128731						152	106	122					15																	28391408		2203	4300	6503	HERC2	SO:0001819	synonymous_variant	0			-	HGNC	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.10983C>A	15.37:g.28391408G>T		Somatic	0	35	0		0.608108911283498	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Silent	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.V3661	ENST00000261609.7	37	c.10983	CCDS10021.1	15																																																																																			-	superfamily_CUB_dom		0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	G	NM_004667	-		28391408	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	silent	SNP	1.000	T	T	28391408	G	T	28391408	2	4	84	1	0	0	0	0	0	0	0	1	7060	1277	45	3		3	HERC2	15	28391408	Silent	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09		28391408	74139984	40	4746											
NDUFAF1	51103	genome.wustl.edu	37	chr15	41689216	41689216	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttggcttagagaattttctGagaaaataagtaccacgcag	10	6	1	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr15:41689216G>T	ENST00000260361.4	-	2	423	c.42C>A	c.(40-42)ctC>ctA	p.L14L		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	14					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AGAATTTTCTGAGAAAATAAG	0.423																																																	0								ENSG00000137806						38	39	38					15																	41689216		2202	4299	6501	NDUFAF1	SO:0001819	synonymous_variant	0			-	HGNC	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.42C>A	15.37:g.41689216G>T		Somatic	0	52	0		0.608108911283498	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q9BVZ5	Silent	SNP							pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	p.L14	ENST00000260361.4	37	c.42	CCDS10075.1	15																																																																																			-	NULL		0.423	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	protein_coding	OTTHUMT00000252692.2	G	NM_016013	-		41689216	-1	no_errors	ENST00000260361	ensembl	human	known	74_37	silent	SNP	0.000	T	T	41689216	G	T	41689216	2	4	84	1	0	0	0	0	0	0	0	1	10276	1277	45	3		3	NDUFAF1	15	41689216	Silent	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	13297808	41689216	60842176	41	4747											
CLPX	10845	genome.wustl.edu	37	chr15	65450174	65450174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctacatatccagcctgagTcaaagttgtacagtcacaga	8	11	2	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr15:65450174T>C	ENST00000300107.3	-	8	1155	c.967A>G	c.(967-969)Act>Gct	p.T323A		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	323					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						CCAGCCTGAGTCAAAGTTGTA	0.388																																																	0								ENSG00000166855						162	142	149					15																	65450174		2202	4299	6501	CLPX	SO:0001583	missense	0			-	HGNC	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.967A>G	15.37:g.65450174T>C	ENSP00000300107:p.Thr323Ala	Somatic	0	80	0		0.608108911283498	39	50.63	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	48	55.96	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP							pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	p.T323A	ENST00000300107.3	37	c.967	CCDS10202.1	15	.	.	.	.	.	.	.	.	.	.	T	33	5.211606	0.95069	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.43294	0.95	6.07	6.07	0.98685	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.043317	0.85682	D	0.000000	T	0.71151	0.3306	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.992;0.997	T	0.77104	-0.2711	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	323;323	Q9H072;O76031	.;CLPX_HUMAN	A	323	ENSP00000300107:T323A	ENSP00000300107:T323A	T	-	1	0	CLPX	63237227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ACT	-	pfam_ATPase_AAA-2,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX		0.388	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	protein_coding	OTTHUMT00000256828.2	T	NM_006660	-		65450174	-1	no_errors	ENST00000300107	ensembl	human	known	74_37	missense	SNP	1.000	C	C	65450174	T	C	65450174	3	2	84	1	0	0	0	0	1	0	0	0	3558	1667	58	5	962	5	CLPX	15	65450174	Missense_Mutation	SNP	T	TCGA-DX-A7EI-01A-11D-A33E-09	23760958	65450174	37081218	42	4748											
ABAT	18	genome.wustl.edu	37	chr16	8857959	8857959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacccgccctcggaatcCtgcctccggagaactttgtg	10	15	0	2			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr16:8857959C>T	ENST00000396600.2	+	7	1338	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	ABAT_ENST00000425191.2_Silent_p.L134L|ABAT_ENST00000567812.1_Silent_p.L149L|ABAT_ENST00000569156.1_Silent_p.L134L|ABAT_ENST00000268251.8_Silent_p.L134L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	134					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCTCGGAATCCTGCCTCCGGA	0.562																																																	0								ENSG00000183044						93	83	86					16																	8857959		2197	4300	6497	ABAT	SO:0001819	synonymous_variant	0			-	HGNC	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.400C>T	16.37:g.8857959C>T		Somatic	0	33	0		0.608108911283498	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	41.94	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP							pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk	p.L134	ENST00000396600.2	37	c.400	CCDS10534.1	16																																																																																			-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk		0.562	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	protein_coding	OTTHUMT00000433620.2	C	NM_020686	-		8857959	1	no_errors	ENST00000268251	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8857959	C	T	8857959	2	4	84	1	0	0	0	0	0	0	0	1	27	680	24	2		2	ABAT	16	8857959	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09		8857959	81496794	43	4749											
TRAF4	9618	genome.wustl.edu	37	chr17	27076468	27076468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggggctccctggatgAgagttctctgggctttggtt	17	8	1	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr17:27076468A>G	ENST00000262395.5	+	7	1415	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G	AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000262396.6_Splice_Site|TRAF4_ENST00000444415.3_Intron|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	429	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCCCTGGATGAGAGTTCTCTG	0.552																																																	0								ENSG00000076604						64	63	63					17																	27076468		2203	4300	6503	TRAF4	SO:0001583	missense	0			-	HGNC	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1286A>G	17.37:g.27076468A>G	ENSP00000262395:p.Glu429Gly	Somatic	0	37	0		0.608108911283498	4	89.74	35	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	0	100.00	O75615|Q14848|Q2KJU4|Q2PJN8	Splice_Site	SNP							-	e5-2	ENST00000262395.5	37	c.463-2	CCDS11243.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.32|16.32	3.089626|3.089626	0.55968|0.55968	.|.	.|.	ENSG00000076604|ENSG00000076604	ENST00000262396|ENST00000262395;ENST00000454852;ENST00000394924;ENST00000394925	.|T	.|0.32023	.|1.47	6.11|6.11	5.04|5.04	0.67666|0.67666	.|TRAF-type (1);TRAF-like (1);MATH (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.31606	.|0.0802	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|P	.|0.42757	.|0.789	.|B	.|0.43658	.|0.426	.|T	.|0.03706	.|-1.1011	.|10	.|0.39692	.|T	.|0.17	.|.	11.0142|11.0142	0.47679|0.47679	0.9283:0.0:0.0717:0.0|0.9283:0.0:0.0717:0.0	.|.	.|429	.|Q9BUZ4	.|TRAF4_HUMAN	.|G	-1|429;157;126;103	.|ENSP00000262395:E429G	.|ENSP00000262395:E429G	.|E	+|+	.|2	.|0	TRAF4|TRAF4	24100595|24100595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.950000|6.950000	0.75977|0.75977	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	.|GAG	-	-		0.552	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	protein_coding	OTTHUMT00000255944.2	A	NM_145751	-		27076468	1	no_errors	ENST00000262396	ensembl	human	novel	74_37	splice_site	SNP	1.000	G	G	27076468	A	G	27076468	3	3	84	1	0	0	0	0	1	0	0	0	16450	304	11	5	1312	5	TRAF4	17	27076468	Missense_Mutation	SNP	A	TCGA-DX-A7EI-01A-11D-A33E-09		27076468	54118742	44	4750											
RNF213	57674	genome.wustl.edu	37	chr17	78313806	78313806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcactgttgctgcgccGctgcctgaccctgggctccc	14	16	0	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr17:78313806G>A	ENST00000582970.1	+	26	5782	c.5639G>A	c.(5638-5640)cGc>cAc	p.R1880H	RNF213_ENST00000508628.2_Missense_Mutation_p.R1929H|RNF213_ENST00000336301.6_5'Flank	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1880					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)			TTGCTGCGCCGCTGCCTGACC	0.627																																																	0								ENSG00000173821						20	22	21					17																	78313806		692	1591	2283	RNF213	SO:0001583	missense	0			-	HGNC	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.5639G>A	17.37:g.78313806G>A	ENSP00000464087:p.Arg1880His	Somatic	0	26	0		0.608108911283498	1	90	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	2	94.12	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.R1880H	ENST00000582970.1	37	c.5639	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639845	0.47153	.	.	ENSG00000173821	ENST00000508628;ENST00000411702	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.75598	0.3871	M	0.62723	1.935	0.80722	D	1	.	.	.	.	.	.	T	0.76900	-0.2788	6	0.87932	D	0	.	19.4123	0.94679	0.0:0.0:1.0:0.0	.	.	.	.	H	1880;1929	.	ENSP00000396478:R1929H	R	+	2	0	RNF213	75928401	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	9.500000	0.97977	2.825000	0.97269	0.650000	0.86243	CGC	-	NULL		0.627	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914	-		78313806	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78313806	G	A	78313806	3	1	84	1	0	0	0	0	1	0	0	0	13485	1087	38	1	6056	1	RNF213	17	78313806	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	51237338	78313806	2881404	45	4751											
PRODH2	58510	genome.wustl.edu	37	chr19	36297635	36297635	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttcacccgggctgttcCagcgcacagccagggcagcc	12	18	1	0			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr19:36297635C>T	ENST00000301175.3	-	7	1021	c.1004G>A	c.(1003-1005)tGg>tAg	p.W335*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	335					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			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)			CGGGCTGTTCCAGCGCACAGC	0.657																																																	0								ENSG00000250799						27	27	27					19																	36297635		2203	4300	6503	PRODH2	SO:0001587	stop_gained	0			-	HGNC	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.1004G>A	19.37:g.36297635C>T	ENSP00000301175:p.Trp335*	Somatic	0	83	0		0.608108911283498	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	164	1239	11.66		Nonsense_Mutation	SNP							pfam_Proline_DH	p.W335*	ENST00000301175.3	37	c.1004	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364962	0.61513	.	.	ENSG00000250799	ENST00000301175	.	.	.	4.94	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.9375	0.35708	0.0:0.9004:0.0:0.0996	.	.	.	.	X	335	.	ENSP00000301175:W335X	W	-	2	0	PRODH2	40989475	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	3.547000	0.53663	1.314000	0.45095	0.591000	0.81541	TGG	-	pfam_Proline_DH		0.657	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	protein_coding	OTTHUMT00000452552.2	C	NM_021232	-		36297635	-1	no_errors	ENST00000301175	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	36297635	C	T	36297635	4	4	84	1	0	0	0	0	0	1	0	0	12554	595	21	2	626	2	PRODH2	19	36297635	Nonsense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09		36297635	22831348	46	4752											
LILRA4	23547	genome.wustl.edu	37	chr19	54844969	54844969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataacagaatcccgaggaaCagcaggaccaagccagccac	9	13	0	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr19:54844969C>T	ENST00000291759.4	-	8	1430	c.1374G>A	c.(1372-1374)ctG>ctA	p.L458L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	458					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCCGAGGAACAGCAGGACCA	0.562																																																	0								ENSG00000239961						100	88	92					19																	54844969		2203	4300	6503	LILRA4	SO:0001819	synonymous_variant	0			-	HGNC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1374G>A	19.37:g.54844969C>T		Somatic	0	74	0		0.608108911283498	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	43	50.00	Q32MC4	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.L458	ENST00000291759.4	37	c.1374	CCDS12890.1	19																																																																																			-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.562	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	protein_coding	OTTHUMT00000140229.2	C	NM_012276	-		54844969	-1	no_errors	ENST00000291759	ensembl	human	known	74_37	silent	SNP	0.000	T	T	54844969	C	T	54844969	2	4	84	1	0	0	0	0	0	0	0	1	8789	465	17	2		2	LILRA4	19	54844969	Silent	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	18547334	54844969	4284014	47	4753											
CST3	1471	genome.wustl.edu	37	chr20	23618269	23618282	+	Frame_Shift_Del	DEL	GCGCACCACCTGCA	GCGCACCACCTGCA	-													gcacgcacctgcttgcgggcGcgcaccacctgcagcgcgcg					rs373743268|rs377587451	byFrequency	TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	GCGCACCACCTGCA	GCGCACCACCTGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr20:23618269_23618282delGCGCACCACCTGCA	ENST00000398411.1	-	1	300_313	c.218_231delTGCAGGTGGTGCGC	c.(217-231)ctgcaggtggtgcgcfs	p.LQVVR73fs	CST3_ENST00000398409.1_Frame_Shift_Del_p.LQVVR73fs|CST3_ENST00000376925.3_Frame_Shift_Del_p.LQVVR73fs			P01034	CYTC_HUMAN	cystatin C	73					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCTTGCGGGCGCGCACCACCTGCAGCGCGCGGCT	0.724																																																	0								ENSG00000101439																																			CST3	SO:0001589	frameshift_variant	0				HGNC		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"cystatin C (amyloid angiopathy and cerebral hemorrhage)"			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.218_231delTGCAGGTGGTGCGC	20.37:g.23618269_23618282delGCGCACCACCTGCA	ENSP00000381448:p.Leu73fs	Somatic					0.608108911283498	1833	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R5J9|D3DW42|Q6FGW9	Frame_Shift_Del	DEL							pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L73fs	ENST00000398411.1	37	c.231_218	CCDS13158.1	20																																																																																			-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.724	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CST3	protein_coding	OTTHUMT00000256831.1	GCGCACCACCTGCA	NM_000099			23618282	-1	no_errors	ENST00000376925	ensembl	human	known	74_37	frame_shift_del	DEL	0.010:0.014:0.007:0.010:0.010:0.003:0.010:0.026:0.021:0.004:0.000:0.000:0.000:0.000	-	-	23618282	GCGCACCACCTGCA	-	23618269	7	5	84	1	0	1	0	1	0	0	0	0	3975	1074	38	0	221	0	CST3	20	23618269	Frame_Shift_Del	DEL	GCGCACCACCTGCA	TCGA-DX-A7EI-01A-11D-A33E-09		23618269	39407251	48	4754											
CHMP4B	128866	genome.wustl.edu	37	chr20	32438798	32438798	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttaatgcaggacattgctGaccagcaagaacttgcagag	11	8	0	3			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chr20:32438798G>C	ENST00000217402.2	+	3	574	c.409G>C	c.(409-411)Gac>Cac	p.D137H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	137					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GGACATTGCTGACCAGCAAGA	0.438																																																	0								ENSG00000101421						127	115	119					20																	32438798		2203	4300	6503	CHMP4B	SO:0001583	missense	0			-	HGNC	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.409G>C	20.37:g.32438798G>C	ENSP00000217402:p.Asp137His	Somatic	0	86	0		0.608108911283498	568	33.64	288	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	144	15.79	E1P5N4|Q53ZD6	Missense_Mutation	SNP							pfam_Snf7	p.D137H	ENST00000217402.2	37	c.409	CCDS13228.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.192566	0.94960	.	.	ENSG00000101421	ENST00000217402	T	0.75260	-0.92	5.66	5.66	0.87406	.	0.085587	0.85682	D	0.000000	D	0.84772	0.5546	M	0.64630	1.985	0.80722	D	1	P	0.41366	0.747	P	0.58577	0.841	D	0.84547	0.0642	10	0.87932	D	0	-28.3174	20.1253	0.97977	0.0:0.0:1.0:0.0	.	137	Q9H444	CHM4B_HUMAN	H	137	ENSP00000217402:D137H	ENSP00000217402:D137H	D	+	1	0	CHMP4B	31902459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GAC	-	pfam_Snf7		0.438	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP4B	protein_coding	OTTHUMT00000078738.2	G		-		32438798	1	no_errors	ENST00000217402	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32438798	G	C	32438798	3	2	84	1	0	0	0	0	1	0	0	0	3359	1290	45	4	419	4	CHMP4B	20	32438798	Missense_Mutation	SNP	G	TCGA-DX-A7EI-01A-11D-A33E-09	8820529	32438798	30586722	49	4755											
MXRA5	25878	genome.wustl.edu	37	chrX	3236006	3236006	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtaccgttcttgagaacctCaaaccgttgtatcctggtat	9	10	2	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chrX:3236006C>G	ENST00000217939.6	-	6	5870	c.5716G>C	c.(5716-5718)Gag>Cag	p.E1906Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1906	Ig-like C2-type 3.					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)				TTGAGAACCTCAAACCGTTGT	0.473																																																	0								ENSG00000101825						52	40	44					X																	3236006		2203	4300	6503	MXRA5	SO:0001583	missense	0			-	HGNC	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.5716G>C	X.37:g.3236006C>G	ENSP00000217939:p.Glu1906Gln	Somatic	0	32	0		0.608108911283498	180	28.46	72	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	54	18.18	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E1906Q	ENST00000217939.6	37	c.5716	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	13.61	2.287536	0.40494	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67523	-0.27	3.22	3.22	0.36961	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35151	U	0.003413	T	0.55386	0.1917	N	0.11201	0.11	0.46631	D	0.999136	P	0.39601	0.68	P	0.47941	0.562	T	0.55055	-0.8200	10	0.27785	T	0.31	.	14.3589	0.66757	0.0:1.0:0.0:0.0	.	1906	Q9NR99	MXRA5_HUMAN	Q	1906	ENSP00000217939:E1906Q	ENSP00000217939:E1906Q	E	-	1	0	MXRA5	3246006	1.000000	0.71417	0.011000	0.14972	0.341000	0.28922	3.132000	0.50523	1.239000	0.43787	0.529000	0.55759	GAG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	C	NM_015419	-		3236006	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	SNP	1.000	G	G	3236006	C	G	3236006	3	3	84	1	0	0	0	0	1	0	0	0	10005	835	29	4	2778	4	MXRA5	23	3236006	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09		3236006	152034554	50	4756											
BHLHB9	80823	genome.wustl.edu	37	chrX	102003976	102003976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaaactgaaaaaaaggCtgctatacaagctaaagctg	9	8	0	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chrX:102003976C>T	ENST00000372735.1	+	4	638	c.53C>T	c.(52-54)gCt>gTt	p.A18V	BHLHB9_ENST00000447531.1_Missense_Mutation_p.A18V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A18V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A18V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A18V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	18					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAAAAAAGGCTGCTATACAA	0.507																																																	0								ENSG00000198908						74	68	70					X																	102003976		2203	4300	6503	BHLHB9	SO:0001583	missense	0			-	HGNC	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.53C>T	X.37:g.102003976C>T	ENSP00000361820:p.Ala18Val	Somatic	0	37	0		0.608108911283498	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q9C0G2	Missense_Mutation	SNP							pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A18V	ENST00000372735.1	37	c.53	CCDS14502.1	X	.	.	.	.	.	.	.	.	.	.	C	8.974	0.973685	0.18736	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	4.07	4.07	0.47477	.	.	.	.	.	T	0.10594	0.0259	L	0.27053	0.805	0.09310	N	1	B	0.26081	0.141	B	0.22152	0.038	T	0.17471	-1.0368	8	.	.	.	-13.445	13.2841	0.60232	0.0:1.0:0.0:0.0	.	18	Q6PI77	BHLH9_HUMAN	V	18	ENSP00000403226:A18V;ENSP00000354675:A18V;ENSP00000405893:A18V;ENSP00000391722:A18V;ENSP00000361820:A18V	.	A	+	2	0	BHLHB9	101890632	0.133000	0.22466	0.004000	0.12327	0.021000	0.10359	2.075000	0.41538	2.299000	0.77371	0.436000	0.28706	GCT	-	NULL		0.507	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	protein_coding	OTTHUMT00000057630.1	C	NM_030639	-		102003976	1	no_errors	ENST00000361229	ensembl	human	known	74_37	missense	SNP	0.007	T	T	102003976	C	T	102003976	3	4	84	1	0	0	0	0	1	0	0	0	1420	797	28	2	55	2	BHLHB9	23	102003976	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	98767970	102003976	53266584	51	4757											
FLNA	2316	genome.wustl.edu	37	chrX	153587439	153587439	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggaggttggcacgaaCcatgcctgggctcaggccgg	17	11	1	1			TCGA-DX-A7EI-01A-11D-A33E-09	TCGA-DX-A7EI-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be26a68a-6f7b-4f67-94ba-2def13816208	ececb6a0-c3f5-4daa-84c1-d752cacc49e7	g.chrX:153587439C>G	ENST00000369850.3	-	26	4623	c.4387G>C	c.(4387-4389)Gtt>Ctt	p.V1463L	FLNA_ENST00000422373.1_Missense_Mutation_p.V1463L|FLNA_ENST00000344736.4_Missense_Mutation_p.V1463L|FLNA_ENST00000360319.4_Missense_Mutation_p.V1463L|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1463					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TTGGCACGAACCATGCCTGGG	0.587																																																	0								ENSG00000196924						141	146	144					X																	153587439		2084	4209	6293	FLNA	SO:0001583	missense	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4387G>C	X.37:g.153587439C>G	ENSP00000358866:p.Val1463Leu	Somatic	0	58	0		0.608108911283498	1614	0.06	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	44	29.03	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V1463L	ENST00000369850.3	37	c.4387	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351449	0.82132	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.69	5.69	0.88448	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.94142	0.8121	L	0.60067	1.865	0.80722	D	1	D;P	0.69078	0.997;0.767	D;P	0.69142	0.962;0.475	D	0.94629	0.7820	10	0.87932	D	0	.	17.4064	0.87474	0.0:1.0:0.0:0.0	.	1463;1463	P21333-2;P21333	.;FLNA_HUMAN	L	1463;1436;1463;1463;1463	ENSP00000353467:V1463L;ENSP00000416926:V1463L;ENSP00000358866:V1463L;ENSP00000358863:V1463L	ENSP00000358863:V1463L	V	-	1	0	FLNA	153240633	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.910000	0.63321	2.379000	0.81126	0.600000	0.82982	GTT	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.587	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	C		-		153587439	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153587439	C	G	153587439	3	3	84	1	0	0	0	0	1	0	0	0	5935	507	18	4	3648	4	FLNA	23	153587439	Missense_Mutation	SNP	C	TCGA-DX-A7EI-01A-11D-A33E-09	51583463	153587439	1683121	52	4758											
HP1BP3	50809	genome.wustl.edu	37	chr1	21106864	21106864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacttgtccgcgtggatcaGctgagctcctactataagtg	10	10	1	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:21106864G>A	ENST00000312239.5	-	2	209	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	HP1BP3_ENST00000375000.1_Silent_p.L24L|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	24					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GCGTGGATCAGCTGAGCTCCT	0.502																																																	0								ENSG00000127483						130	103	112					1																	21106864		2203	4300	6503	HP1BP3	SO:0001819	synonymous_variant	0			-	HGNC	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.70C>T	1.37:g.21106864G>A		Somatic	0	110	0		0.491148301723028	46	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP							pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.L24	ENST00000312239.5	37	c.70	CCDS30621.1	1																																																																																			-	NULL		0.502	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	protein_coding	OTTHUMT00000007457.2	G	NM_016287	-		21106864	-1	no_errors	ENST00000312239	ensembl	human	known	74_37	silent	SNP	1.000	A	A	21106864	G	A	21106864	2	1	85	1	0	0	0	0	0	0	0	1	7330	962	34	2		2	HP1BP3	1	21106864	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		21106864	228143757	1	4759											
HSPG2	3339	genome.wustl.edu	37	chr1	22168130	22168130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgggtgcccacgatgGtgatgatggagccattggga	18	8	0	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:22168130G>T	ENST00000374695.3	-	70	9309	c.9230C>A	c.(9229-9231)aCc>aAc	p.T3077N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3077	Ig-like C2-type 16.				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)	GCCCACGATGGTGATGATGGA	0.602																																																	0								ENSG00000142798						123	101	108					1																	22168130		2203	4300	6503	HSPG2	SO:0001583	missense	0			-	HGNC	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.9230C>A	1.37:g.22168130G>T	ENSP00000363827:p.Thr3077Asn	Somatic	0	89	0		0.491148301723028	339	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.T3077N	ENST00000374695.3	37	c.9230	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711079	0.68730	.	.	ENSG00000142798	ENST00000374695	T	0.69926	-0.44	5.22	3.34	0.38264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177776	0.27035	N	0.021247	T	0.76990	0.4065	M	0.73217	2.22	0.34550	D	0.711257	D;D	0.67145	0.996;0.994	D;D	0.74348	0.983;0.974	T	0.80113	-0.1518	10	0.38643	T	0.18	.	9.4259	0.38578	0.0794:0.145:0.7756:0.0	.	1017;3077	Q59EG0;P98160	.;PGBM_HUMAN	N	3077	ENSP00000363827:T3077N	ENSP00000363827:T3077N	T	-	2	0	HSPG2	22040717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.175000	0.77632	0.587000	0.29643	-0.304000	0.09214	ACC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.602	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22168130	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22168130	G	T	22168130	3	4	85	1	0	0	0	0	1	0	0	0	7432	1261	44	3	4057	3	HSPG2	1	22168130	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	1061266	22168130	227082491	2	4760											
ZNF683	257101	genome.wustl.edu	37	chr1	26691177	26691177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatgccatgccaccacgcTccaggcctggggagtcggtt	14	13	0	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:26691177T>C	ENST00000436292.1	-	4	980	c.860A>G	c.(859-861)gAg>gGg	p.E287G	ZNF683_ENST00000374204.1_Missense_Mutation_p.E287G|ZNF683_ENST00000349618.3_Missense_Mutation_p.E287G|ZNF683_ENST00000403843.1_Missense_Mutation_p.E287G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	287					natural killer cell differentiation (GO:0001779)|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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCCACCACGCTCCAGGCCTGG	0.612																																																	0								ENSG00000176083						70	72	71					1																	26691177		2203	4300	6503	ZNF683	SO:0001583	missense	0			-	HGNC	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.860A>G	1.37:g.26691177T>C	ENSP00000388792:p.Glu287Gly	Somatic	0	121	0		0.491148301723028	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E287G	ENST00000436292.1	37	c.860		1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663048	0.29515	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.09163	3.02;3.02;3.01;3.01	4.44	2.05	0.26809	.	0.740503	0.11606	N	0.547321	T	0.06142	0.0159	N	0.19112	0.55	0.09310	N	1	B;B	0.33238	0.403;0.001	B;B	0.33890	0.172;0.003	T	0.40572	-0.9556	10	0.25106	T	0.35	-8.5948	3.4553	0.07512	0.1972:0.1071:0.0:0.6957	.	287;287	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	G	287	ENSP00000384782:E287G;ENSP00000388792:E287G;ENSP00000363320:E287G;ENSP00000344095:E287G	ENSP00000344095:E287G	E	-	2	0	ZNF683	26563764	0.014000	0.17966	0.001000	0.08648	0.039000	0.13416	1.548000	0.36201	0.228000	0.21019	0.459000	0.35465	GAG	-	NULL		0.612	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	protein_coding	OTTHUMT00000009794.2	T	NM_173574	-		26691177	-1	no_errors	ENST00000403843	ensembl	human	known	74_37	missense	SNP	0.004	C	C	26691177	T	C	26691177	3	2	85	1	0	0	0	0	1	0	0	0	18097	1551	54	5	666	5	ZNF683	1	26691177	Missense_Mutation	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	4523047	26691177	222559444	3	4761											
GRIK3	2899	genome.wustl.edu	37	chr1	37267481	37267481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggggctaaggatgtgcTgcaggccatgctgtccttgc	14	11	0	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:37267481T>G	ENST00000373091.3	-	16	2747	c.2731A>C	c.(2731-2733)Agc>Cgc	p.S911R		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	911					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)			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)				AAGGATGTGCTGCAGGCCATG	0.602																																																	0								ENSG00000163873						93	75	81					1																	37267481		2203	4300	6503	GRIK3	SO:0001583	missense	0			-	HGNC	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.2731A>C	1.37:g.37267481T>G	ENSP00000362183:p.Ser911Arg	Somatic	0	30	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S911R	ENST00000373091.3	37	c.2731	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143042	0.57044	.	.	ENSG00000163873	ENST00000373091	T	0.12039	2.72	5.86	4.73	0.59995	.	0.115971	0.56097	D	0.000024	T	0.09247	0.0228	N	0.14661	0.345	0.80722	D	1	B	0.19583	0.037	B	0.18263	0.021	T	0.10917	-1.0609	10	0.59425	D	0.04	.	11.604	0.51020	0.0:0.0692:0.0:0.9308	.	911	Q13003	GRIK3_HUMAN	R	911	ENSP00000362183:S911R	ENSP00000362183:S911R	S	-	1	0	GRIK3	37040068	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.615000	0.83006	1.050000	0.40346	0.523000	0.50628	AGC	-	NULL		0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	T	NM_000831	-		37267481	-1	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	SNP	1.000	G	G	37267481	T	G	37267481	3	3	85	1	0	0	0	0	1	0	0	0	6777	1580	55	5	32	5	GRIK3	1	37267481	Missense_Mutation	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	10576304	37267481	211983140	4	4762											
ZNF684	127396	genome.wustl.edu	37	chr1	41012818	41012818	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaagtcatttgaatgtaagGaatgtgggaaaaccttcagg	12	4	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:41012818G>T	ENST00000372699.3	+	5	1074	c.823G>T	c.(823-825)Gaa>Taa	p.E275*	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	275					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(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGAATGTAAGGAATGTGGGAA	0.383																																																	0								ENSG00000117010						66	69	68					1																	41012818		2203	4300	6503	ZNF684	SO:0001587	stop_gained	0			-	HGNC		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"Zinc fingers, C2H2-type", "-"	28418	protein-coding gene	gene with protein product	"hypothetical protein MGC27466"					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.823G>T	1.37:g.41012818G>T	ENSP00000361784:p.Glu275*	Somatic	0	62	0		0.491148301723028	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q2NKY4	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E275*	ENST00000372699.3	37	c.823	CCDS454.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.327556	0.95733	.	.	ENSG00000117010	ENST00000372699	.	.	.	4.29	3.3	0.37823	.	0.000000	0.36519	N	0.002556	.	.	.	.	.	.	0.32893	D	0.512158	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.0772	0.53652	0.0:0.1758:0.8242:0.0	.	.	.	.	X	275	.	ENSP00000361784:E275X	E	+	1	0	ZNF684	40785405	0.003000	0.15002	1.000000	0.80357	0.998000	0.95712	0.469000	0.22067	2.393000	0.81446	0.591000	0.81541	GAA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	protein_coding	OTTHUMT00000019260.3	G	NM_152373	-		41012818	1	no_errors	ENST00000372699	ensembl	human	known	74_37	nonsense	SNP	0.556	T	T	41012818	G	T	41012818	4	4	85	1	0	0	0	0	0	1	0	0	18098	1175	41	3	837	3	ZNF684	1	41012818	Nonsense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	3745337	41012818	208237803	5	4763											
TACSTD2	4070	genome.wustl.edu	37	chr1	59041881	59041898	+	In_Frame_Del	DEL	CTCCCCCAGTTCCTTGAT	CTCCCCCAGTTCCTTGAT	-													aagctcggttcctttctcaaCtcccccagttccttgatctc					rs529900062|rs376943593	byFrequency	TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	CTCCCCCAGTTCCTTGAT	CTCCCCCAGTTCCTTGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:59041881_59041898delCTCCCCCAGTTCCTTGAT	ENST00000371225.2	-	1	1268_1285	c.931_948delATCAAGGAACTGGGGGAG	c.(931-948)atcaaggaactgggggagdel	p.IKELGE311del		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	311					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CCTTTCTCAACTCCCCCAGTTCCTTGATCTCCACCTTC	0.61																																																	0								ENSG00000184292																																			TACSTD2	SO:0001651	inframe_deletion	0				HGNC	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.931_948delATCAAGGAACTGGGGGAG	1.37:g.59041881_59041898delCTCCCCCAGTTCCTTGAT	ENSP00000360269:p.Ile311_Glu316del	Somatic					0.491148301723028	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q15658|Q6FG48|Q7Z7Q4|Q96QD2	In_Frame_Del	DEL							pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.IKELGE311in_frame_del	ENST00000371225.2	37	c.948_931	CCDS609.1	1																																																																																			-	NULL		0.61	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACSTD2	protein_coding	OTTHUMT00000027818.1	CTCCCCCAGTTCCTTGAT	NM_002353			59041898	-1	no_errors	ENST00000371225	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.935:0.910:0.989:0.996:0.994:0.999:0.999:0.998:0.997:0.993	-	-	59041898	CTCCCCCAGTTCCTTGAT	-	59041881	7	5	85	1	0	1	0	1	0	0	0	0	15515	564	20	0	27	0	TACSTD2	1	59041881	In_Frame_Del	DEL	CTCCCCCAGTTCCTTGAT	TCGA-DX-A7EL-01A-12D-A36J-09	18029063	59041881	190208740	6	4764											
BRDT	676	genome.wustl.edu	37	chr1	92470012	92470012	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattcatggaaaagtttaggCaaaccagtgaaaccatcagg	10	7	2	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:92470012C>G	ENST00000362005.3	+	18	2848	c.2430C>G	c.(2428-2430)ggC>ggG	p.G810G	BRDT_ENST00000394530.3_Silent_p.G764G|BRDT_ENST00000399546.2_Silent_p.G810G|BRDT_ENST00000402388.1_Silent_p.G810G|BRDT_ENST00000370389.2_Silent_p.G737G	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	810					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGTTTAGGCAAACCAGTGA	0.358																																																	0								ENSG00000137948						81	88	86					1																	92470012		2202	4300	6502	BRDT	SO:0001819	synonymous_variant	0			-	HGNC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2430C>G	1.37:g.92470012C>G		Somatic	0	65	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G810	ENST00000362005.3	37	c.2430	CCDS735.1	1																																																																																			-	NULL		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	protein_coding	OTTHUMT00000027980.2	C	NM_207189	-		92470012	1	no_errors	ENST00000362005	ensembl	human	known	74_37	silent	SNP	1.000	G	G	92470012	C	G	92470012	2	3	85	1	0	0	0	0	0	0	0	1	1510	697	25	4		4	BRDT	1	92470012	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	33428131	92470012	156780609	7	4765											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576852	158576852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcttttggtcctcttGgtctccttcttcttcatcac	5	14	8	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:158576852G>A	ENST00000361284.1	+	1	624	c.624G>A	c.(622-624)ttG>ttA	p.L208L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGTCCTCTTGGTCTCCTTCT	0.522																																																	0								ENSG00000198967						152	132	138					1																	158576852		2203	4300	6503	OR10Z1	SO:0001819	synonymous_variant	0			-	HGNC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.624G>A	1.37:g.158576852G>A		Somatic	0	34	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q5VYL0|Q6IFR7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L208	ENST00000361284.1	37	c.624	CCDS30901.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.522	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	protein_coding	OTTHUMT00000051853.1	G	NM_001004478	-		158576852	1	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	SNP	0.029	A	A	158576852	G	A	158576852	2	1	85	1	0	0	0	0	0	0	0	1	10925	1339	47	2		2	OR10Z1	1	158576852	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	66106840	158576852	90673769	8	4766											
CD55	1604	genome.wustl.edu	37	chr1	207532941	207532941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggacgctagtaaccatgGgcttgctgacttagccaaag	12	9	0	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:207532941G>T	ENST00000367064.3	+	10	1390	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C	CD55_ENST00000367065.5_Missense_Mutation_p.G416V|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.G417V|CD55_ENST00000391921.4_Missense_Mutation_p.G314C|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	378					CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGTAACCATGGGCTTGCTGAC	0.323																																																	0								ENSG00000196352						93	93	93					1																	207532941		2203	4300	6503	CD55	SO:0001583	missense	0			-	HGNC	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.1132G>T	1.37:g.207532941G>T	ENSP00000356031:p.Gly378Cys	Somatic	0	76	0		0.491148301723028	72	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G417V	ENST00000367064.3	37	c.1250	CCDS31006.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.875324|1.875324	0.33162|0.33162	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000367064;ENST00000391921;ENST00000536840|ENST00000314754;ENST00000367065	T;T|T;T	0.42513|0.39997	0.97;1.3|1.05;1.07	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|.	.|.	.|.	.|.	T|T	0.44705|0.44705	0.1306|0.1306	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|P;D	0.89917|0.57899	1.0;1.0|0.937;0.981	D;D|B;P	0.79784|0.54026	0.993;0.993|0.326;0.74	T|T	0.17107|0.17107	-1.0380|-1.0380	9|9	0.72032|0.36615	D|T	0.01|0.2	.|.	15.3525|15.3525	0.74399|0.74399	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	314;378|416;417	B1AP15;P08174|Q14UF6;P08174-2	.;DAF_HUMAN|.;.	C|V	378;314;314|417;416	ENSP00000356031:G378C;ENSP00000375788:G314C|ENSP00000316333:G417V;ENSP00000356032:G416V	ENSP00000356031:G378C|ENSP00000316333:G417V	G|G	+|+	1|2	0|0	CD55|CD55	205599564|205599564	0.992000|0.992000	0.36948|0.36948	0.899000|0.899000	0.35326|0.35326	0.012000|0.012000	0.07955|0.07955	2.633000|2.633000	0.46519|0.46519	2.770000|2.770000	0.95276|0.95276	0.563000|0.563000	0.77884|0.77884	GGC|GGG	-	NULL		0.323	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	protein_coding	OTTHUMT00000088208.2	G	NM_000574	-		207532941	1	no_errors	ENST00000314754	ensembl	human	known	74_37	missense	SNP	0.983	T	T	207532941	G	T	207532941	3	4	85	1	0	0	0	0	1	0	0	0	3026	1232	43	3	1292	3	CD55	1	207532941	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	48956089	207532941	41717680	9	4767											
DPYSL5	56896	genome.wustl.edu	37	chr2	27167529	27167529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatccttccctagactttAaaggttagaggagtggaccg	10	10	0	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:27167529A>G	ENST00000288699.6	+	12	1604	c.1446A>G	c.(1444-1446)ttA>ttG	p.L482L	DPYSL5_ENST00000401478.1_Silent_p.L482L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	482					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAGACTTTAAAGGTTAGAG	0.547																																																	0								ENSG00000157851						76	71	73					2																	27167529		2203	4300	6503	DPYSL5	SO:0001819	synonymous_variant	0			-	HGNC	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1446A>G	2.37:g.27167529A>G		Somatic	0	95	0		0.491148301723028	27	3.57	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP							pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L482	ENST00000288699.6	37	c.1446	CCDS1730.1	2																																																																																			-	superfamily_Metal-dep_hydrolase_composite		0.547	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	protein_coding	OTTHUMT00000214187.2	A	NM_020134	-		27167529	1	no_errors	ENST00000288699	ensembl	human	known	74_37	silent	SNP	0.995	G	G	27167529	A	G	27167529	2	3	85	1	0	0	0	0	0	0	0	1	4752	359	13	5		5	DPYSL5	2	27167529	Silent	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09		27167529	216031844	10	4768											
ZNF512	84450	genome.wustl.edu	37	chr2	27822468	27822468	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggtcaggtggagtatcagCcaaggggaaaaggaaaccca	15	7	2	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:27822468C>G	ENST00000355467.4	+	4	379	c.296C>G	c.(295-297)gCc>gGc	p.A99G	ZNF512_ENST00000379717.1_Missense_Mutation_p.A98G|ZNF512_ENST00000413371.2_Missense_Mutation_p.A22G|ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.P10A|ZNF512_ENST00000416005.2_Missense_Mutation_p.A98G	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	99					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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGAGTATCAGCCAAGGGGAAA	0.403																																																	0								ENSG00000243943						110	111	111					2																	27822468		2203	4300	6503	ZNF512	SO:0001583	missense	0			-	HGNC	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.296C>G	2.37:g.27822468C>G	ENSP00000347648:p.Ala99Gly	Somatic	0	97	0		0.491148301723028	40	29.82	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A99G	ENST00000355467.4	37	c.296	CCDS1758.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.77|13.77	2.336738|2.336738	0.41398|0.41398	.|.	.|.	ENSG00000243943|ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371|ENST00000556601	.|.	.|.	.|.	5.65|5.65	3.71|3.71	0.42584|0.42584	.|.	1.287310|.	0.05013|.	N|.	0.471236|.	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.15983|0.15983	-1.0418|-1.0418	9|5	0.19147|.	T|.	0.46|.	1.3249|1.3249	5.2301|5.2301	0.15416|0.15416	0.1409:0.6182:0.1558:0.085|0.1409:0.6182:0.1558:0.085	.|.	22;98;99|.	B4DES6;B4DSM5;Q96ME7|.	.;.;ZN512_HUMAN|.	G|A	98;99;98;22|10	.|.	ENSP00000347648:A99G|.	A|P	+|+	2|1	0|0	ZNF512|ZNF512	27675972|27675972	0.933000|0.933000	0.31639|0.31639	0.824000|0.824000	0.32777|0.32777	0.885000|0.885000	0.51271|0.51271	1.135000|1.135000	0.31454|0.31454	1.356000|1.356000	0.45884|0.45884	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	NULL		0.403	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	protein_coding	OTTHUMT00000215029.2	C	NM_032434	-		27822468	1	no_errors	ENST00000355467	ensembl	human	known	74_37	missense	SNP	0.235	G	G	27822468	C	G	27822468	3	3	85	1	0	0	0	0	1	0	0	0	17963	739	26	4	310	4	ZNF512	2	27822468	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	654939	27822468	215376905	11	4769											
IL1F7	27178	genome.wustl.edu	37	chr2	113676368	113676368	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaagctgaaatgagcccCagtgaggtcagcgattagga	13	8	1	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:113676368C>A	ENST00000263326.3	+	5	681	c.639C>A	c.(637-639)ccC>ccA	p.P213P	IL37_ENST00000352179.3_Silent_p.P192P|IL37_ENST00000353225.3_Silent_p.P173P|IL37_ENST00000311328.2_Silent_p.P187P|IL37_ENST00000349806.3_Silent_p.P152P	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	213					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAATGAGCCCCAGTGAGGTCA	0.413																																																	0								ENSG00000125571						63	67	66					2																	113676368		2203	4300	6503	IL37	SO:0001819	synonymous_variant	0			-	HGNC	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.639C>A	2.37:g.113676368C>A		Somatic	0	25	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Silent	SNP							pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36	p.P213	ENST00000263326.3	37	c.639	CCDS2103.1	2																																																																																			-	NULL		0.413	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	protein_coding	OTTHUMT00000254126.1	C	NM_014439	-		113676368	1	no_errors	ENST00000263326	ensembl	human	known	74_37	silent	SNP	0.000	A	A	113676368	C	A	113676368	2	1	85	1	0	0	0	0	0	0	0	1	7657	581	21	3		3	IL1F7	2	113676368	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	85853900	113676368	129523005	12	4770											
LRP1B	53353	genome.wustl.edu	37	chr2	141272314	141272314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatttttgtgcggaacaaGcaaattggttccaagagcaa	9	7	0	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:141272314G>A	ENST00000389484.3	-	51	9148	c.8177C>T	c.(8176-8178)gCt>gTt	p.A2726V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2726	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		TGCGGAACAAGCAAATTGGTT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						98	92	94					2																	141272314		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.8177C>T	2.37:g.141272314G>A	ENSP00000374135:p.Ala2726Val	Somatic	0	75	0		0.491148301723028	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2726V	ENST00000389484.3	37	c.8177	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314706	0.60524	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.44482	0.92	5.29	5.29	0.74685	.	0.075106	0.52532	U	0.000069	T	0.45074	0.1324	L	0.42008	1.315	0.47476	D	0.999433	B	0.28713	0.22	B	0.38156	0.266	T	0.27839	-1.0062	10	0.30854	T	0.27	.	19.2903	0.94096	0.0:0.0:1.0:0.0	.	2726	Q9NZR2	LRP1B_HUMAN	V	2726;2664	ENSP00000374135:A2726V	ENSP00000374135:A2726V	A	-	2	0	LRP1B	140988784	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.174000	0.71943	2.633000	0.89246	0.655000	0.94253	GCT	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		141272314	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141272314	G	A	141272314	3	1	85	1	0	0	0	0	1	0	0	0	8957	971	34	2	5786	2	LRP1B	2	141272314	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	27595946	141272314	101927059	13	4771											
SCN7A	6332	genome.wustl.edu	37	chr2	167263047	167263047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcagattatgaaacacCtttggtccttttccaagacg	7	10	1	3	rs370436682		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:167263047C>T	ENST00000409855.1	-	25	4218	c.4092G>A	c.(4090-4092)aaG>aaA	p.K1364K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1364					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TATGAAACACCTTTGGTCCTT	0.443																																																	0								ENSG00000136546	C		0,3950		0,0,1975	112	106	108		4092	4.4	1	2		108	2,8314		0,2,4156	no	coding-synonymous	SCN7A	NM_002976.3		0,2,6131	TT,TC,CC		0.0241,0.0,0.0163		1364/1683	167263047	2,12264	1975	4158	6133	SCN7A	SO:0001819	synonymous_variant	0			-	HGNC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4092G>A	2.37:g.167263047C>T		Somatic	0	70	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48		Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.K1364	ENST00000409855.1	37	c.4092	CCDS46442.1	2																																																																																			-	pfam_Ion_trans_dom		0.443	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	protein_coding	OTTHUMT00000333745.1	C		-		167263047	-1	no_errors	ENST00000409855	ensembl	human	known	74_37	silent	SNP	1.000	T	T	167263047	C	T	167263047	2	4	85	1	0	0	0	0	0	0	0	1	13931	680	24	2		2	SCN7A	2	167263047	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	25990733	167263047	75936326	14	4772											
ZC3H15	55854	genome.wustl.edu	37	chr2	187370520	187370520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtcaatgatgatgaTgaggaagcagatgatacccg	13	6	1	6			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:187370520T>C	ENST00000337859.6	+	8	1145	c.918T>C	c.(916-918)gaT>gaC	p.D306D	ZC3H15_ENST00000544130.1_Silent_p.D101D	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	306					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ATGATGATGATGAGGAAGCAG	0.403																																																	0								ENSG00000065548						126	121	123					2																	187370520		2009	4171	6180	ZC3H15	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.918T>C	2.37:g.187370520T>C		Somatic	0	87	0		0.491148301723028	135	36.32	77	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	42	37.31	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.D306	ENST00000337859.6	37	c.918	CCDS42791.1	2																																																																																			-	NULL		0.403	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	protein_coding	OTTHUMT00000334547.2	T	NM_018471	-		187370520	1	no_errors	ENST00000337859	ensembl	human	known	74_37	silent	SNP	0.998	C	C	187370520	T	C	187370520	2	2	85	1	0	0	0	0	0	0	0	1	17574	1461	51	5		5	ZC3H15	2	187370520	Silent	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	20107473	187370520	55828853	15	4773											
CCDC13	152206	genome.wustl.edu	37	chr3	42793507	42793507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgacagcctggtcaggGctgtctgcagctgaaaaagc	14	10	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:42793507G>A	ENST00000310232.6	-	5	607	c.524C>T	c.(523-525)gCc>gTc	p.A175V	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	175										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCTGGTCAGGGCTGTCTGCAG	0.557																																																	0								ENSG00000244607						63	60	61					3																	42793507		2203	4300	6503	CCDC13	SO:0001583	missense	0			-	HGNC	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.524C>T	3.37:g.42793507G>A	ENSP00000309836:p.Ala175Val	Somatic	0	31	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	18.75		Missense_Mutation	SNP							superfamily_Prefoldin	p.A175V	ENST00000310232.6	37	c.524	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643291	0.47153	.	.	ENSG00000244607	ENST00000310232	T	0.25250	1.81	4.01	4.01	0.46588	.	0.431263	0.25997	N	0.026980	T	0.46541	0.1398	M	0.79475	2.455	0.09310	N	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.87578	0.996;0.99;0.998	T	0.35871	-0.9771	10	0.14656	T	0.56	.	11.938	0.52884	0.0:0.0:1.0:0.0	.	175;175;175	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	V	175	ENSP00000309836:A175V	ENSP00000309836:A175V	A	-	2	0	CCDC13	42768511	0.661000	0.27430	0.013000	0.15412	0.326000	0.28443	3.148000	0.50647	2.508000	0.84585	0.655000	0.94253	GCC	-	NULL		0.557	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	protein_coding	OTTHUMT00000256652.1	G	NM_144719	-		42793507	-1	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	SNP	0.013	A	A	42793507	G	A	42793507	3	1	85	1	0	0	0	0	1	0	0	0	2767	1203	42	2	1671	2	CCDC13	3	42793507	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		42793507	155228923	16	4774											
NME6	10201	genome.wustl.edu	37	chr3	48336679	48336679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccatgagcgtcctccagaGctggatggcatccttgtggg	13	12	0	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:48336679G>T	ENST00000452211.1	-	6	517	c.280C>A	c.(280-282)Ctc>Atc	p.L94I	NME6_ENST00000421967.1_Missense_Mutation_p.L102I|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Missense_Mutation_p.S80R|NME6_ENST00000435684.1_Missense_Mutation_p.S80R|NME6_ENST00000415053.1_Missense_Mutation_p.L94I|NME6_ENST00000451657.1_Missense_Mutation_p.S80R|NME6_ENST00000442597.1_Missense_Mutation_p.L94I|NME6_ENST00000426689.2_Missense_Mutation_p.L94I|NME6_ENST00000415644.1_Intron|NME6_ENST00000447314.1_Missense_Mutation_p.L49I|NME6_ENST00000426723.1_Intron|NME6_ENST00000444069.1_5'UTR			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	94					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTCCTCCAGAGCTGGATGGCA	0.572																																																	0								ENSG00000172113						64	56	59					3																	48336679		2203	4300	6503	NME6	SO:0001583	missense	0			-	HGNC	AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.280C>A	3.37:g.48336679G>T	ENSP00000392352:p.Leu94Ile	Somatic	0	63	0		0.491148301723028	58	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP							pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.L102I	ENST00000452211.1	37	c.304		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.796580|3.796580	0.70567|0.70567	.|.	.|.	ENSG00000172113|ENSG00000172113	ENST00000421967;ENST00000426689;ENST00000452211;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930;ENST00000456495|ENST00000450160;ENST00000451657;ENST00000435684	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|.	4.91|4.91	2.86|2.86	0.33363|0.33363	.|.	0.236715|.	0.41938|.	D|.	0.000784|.	T|T	0.28400|0.28400	0.0702|0.0702	L|L	0.33624|0.33624	1.015|1.015	0.21604|0.21604	N|N	0.999624|0.999624	B;B|P	0.27882|0.45474	0.192;0.165|0.859	B;B|B	0.42361|0.43274	0.385;0.229|0.414	T|T	0.11060|0.11060	-1.0603|-1.0603	10|8	0.22109|0.72032	T|D	0.4|0.01	-5.4355|-5.4355	6.2452|6.2452	0.20813|0.20813	0.3486:0.0:0.6514:0.0|0.3486:0.0:0.6514:0.0	.|.	94;94|80	O75414;C9J9V6|O75414-3	NDK6_HUMAN;.|.	I|R	102;94;94;94;94;49;94;94|80	ENSP00000416658:L102I;ENSP00000440286:L94I;ENSP00000392352:L94I;ENSP00000399582:L94I;ENSP00000406642:L94I;ENSP00000414842:L49I;ENSP00000411116:L94I;ENSP00000392715:L94I|.	ENSP00000399582:L94I|ENSP00000393261:S80R	L|S	-|-	1|3	0|2	NME6|NME6	48311683|48311683	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.819000|0.819000	0.46315|0.46315	4.209000|4.209000	0.58493|0.58493	0.609000|0.609000	0.30018|0.30018	0.655000|0.655000	0.94253|0.94253	CTC|AGC	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase		0.572	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	NME6	protein_coding	OTTHUMT00000346107.1	G	NM_005793	-		48336679	-1	no_errors	ENST00000421967	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48336679	G	T	48336679	3	4	85	1	0	0	0	0	1	0	0	0	10497	971	34	3	288	3	NME6	3	48336679	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	5543172	48336679	149685751	17	4775											
GOLGB1	2804	genome.wustl.edu	37	chr3	121413302	121413302	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgctttacttcttgtTgtttttcttttaacagttcc	6	8	2	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:121413302T>A	ENST00000340645.5	-	13	6178	c.6053A>T	c.(6052-6054)cAa>cTa	p.Q2018L	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q2023L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2018					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TACTTCTTGTTGTTTTTCTTT	0.368																																																	0								ENSG00000173230						149	153	152					3																	121413302		2203	4299	6502	GOLGB1	SO:0001583	missense	0			-	HGNC	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6053A>T	3.37:g.121413302T>A	ENSP00000341848:p.Gln2018Leu	Somatic	0	14	0		0.491148301723028	40	20	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q2018L	ENST00000340645.5	37	c.6053	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387279	0.42308	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.22134	1.97;1.97	5.21	5.21	0.72293	.	0.000000	0.48767	D	0.000178	T	0.44582	0.1300	M	0.71581	2.175	0.54753	D	0.999987	D;D;D;D	0.89917	0.996;0.996;1.0;1.0	D;D;D;D	0.87578	0.99;0.99;0.997;0.998	T	0.33777	-0.9855	10	0.46703	T	0.11	.	13.0741	0.59077	0.0:0.0:0.0:1.0	.	1943;2023;2023;2018	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	L	2018;2023	ENSP00000341848:Q2018L;ENSP00000377275:Q2023L	ENSP00000341848:Q2018L	Q	-	2	0	GOLGB1	122895992	1.000000	0.71417	0.935000	0.37517	0.989000	0.77384	7.778000	0.85637	2.174000	0.68829	0.533000	0.62120	CAA	-	superfamily_Prefoldin		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	T	NM_004487	-		121413302	-1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121413302	T	A	121413302	3	1	85	1	0	0	0	0	1	0	0	0	6567	1812	63	5	3766	5	GOLGB1	3	121413302	Missense_Mutation	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	73076623	121413302	76609128	18	4776											
KLHL24	54800	genome.wustl.edu	37	chr3	183368664	183368664	+	Frame_Shift_Del	DEL	T	T	-													attgcttaggaatccagcgcTttgctgatacccattcactc							TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:183368664delT	ENST00000454652.2	+	4	906	c.520delT	c.(520-522)tttfs	p.F174fs	KLHL24_ENST00000242810.6_Frame_Shift_Del_p.F174fs|KLHL24_ENST00000476808.1_Frame_Shift_Del_p.F174fs	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	174	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AATCCAGCGCTTTGCTGATAC	0.418																																																	0								ENSG00000114796						99	96	97					3																	183368664		2203	4300	6503	KLHL24	SO:0001589	frameshift_variant	0				HGNC		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.520delT	3.37:g.183368664delT	ENSP00000395012:p.Phe174fs	Somatic	0	17	0		0.491148301723028	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A5PLN8|Q9H620|Q9NXT9	Frame_Shift_Del	DEL							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F174fs	ENST00000454652.2	37	c.520	CCDS3246.1	3																																																																																			-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	protein_coding	OTTHUMT00000346586.2	T	NM_017644			183368664	1	no_errors	ENST00000242810	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	183368664	T	-	183368664	7	5	85	1	0	1	0	1	0	0	0	0	8381	1609	56	0	522	0	KLHL24	3	183368664	Frame_Shift_Del	DEL	T	TCGA-DX-A7EL-01A-12D-A36J-09	61955362	183368664	14653766	19	4777											
ARHGAP10	79658	genome.wustl.edu	37	chr4	148876500	148876500	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctcatgacctatgagttAcatggagatttcattgttcc	7	10	2	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr4:148876500A>T	ENST00000336498.3	+	16	1664	c.1425A>T	c.(1423-1425)ttA>ttT	p.L475F	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.L124F	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1238					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCTATGAGTTACATGGAGATT	0.348																																																	0								ENSG00000071205						155	173	167					4																	148876500		2203	4299	6502	ARHGAP10	SO:0001583	missense	0			-	HGNC	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1425A>T	4.37:g.148876500A>T	ENSP00000336923:p.Leu475Phe	Somatic	0	51	0		0.491148301723028	339	14.18	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	68	11.69	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L475F	ENST00000336498.3	37	c.1425	CCDS34075.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.98|14.98	2.697793|2.697793	0.48307|0.48307	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000336498;ENST00000414545|ENST00000507661	T;T|.	0.24538|.	1.85;1.85|.	5.26|5.26	2.81|2.81	0.32909|0.32909	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.145380|.	0.44688|.	D|.	0.000424|.	T|T	0.56077|0.56077	0.1961|0.1961	L|L	0.49778|0.49778	1.585|1.585	0.54753|0.54753	D|D	0.999987|0.999987	P;D;D|.	0.63880|.	0.605;0.993;0.958|.	B;P;P|.	0.61070|.	0.264;0.883;0.77|.	T|T	0.47262|0.47262	-0.9131|-0.9131	10|5	0.28530|.	T|.	0.3|.	.|.	8.1991|8.1991	0.31413|0.31413	0.6796:0.0:0.3204:0.0|0.6796:0.0:0.3204:0.0	.|.	56;124;475|.	Q86T21;E7EUW5;A1A4S6|.	.;.;RHG10_HUMAN|.	F|S	475;124|153	ENSP00000336923:L475F;ENSP00000406624:L124F|.	ENSP00000336923:L475F|.	L|T	+|+	3|1	2|0	ARHGAP10|ARHGAP10	149095950|149095950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	1.709000|1.709000	0.37909|0.37909	0.404000|0.404000	0.25506|0.25506	-0.290000|-0.290000	0.09829|0.09829	TTA|ACA	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.348	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	protein_coding	OTTHUMT00000365005.1	A	NM_024605	-		148876500	1	no_errors	ENST00000336498	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148876500	A	T	148876500	3	4	85	1	0	0	0	0	1	0	0	0	862	388	14	5	1487	5	ARHGAP10	4	148876500	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09		148876500	42277776	20	4778											
CMYA5	202333	genome.wustl.edu	37	chr5	79032251	79032251	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagaaggaaagaagcagCaggaacatcagccttattct	9	8	3	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:79032251C>T	ENST00000446378.2	+	2	7694	c.7663C>T	c.(7663-7665)Cag>Tag	p.Q2555*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2555					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)		AAAGAAGCAGCAGGAACATCA	0.368																																																	0								ENSG00000164309						68	65	66					5																	79032251		1893	4114	6007	CMYA5	SO:0001587	stop_gained	0			-	HGNC	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.7663C>T	5.37:g.79032251C>T	ENSP00000394770:p.Gln2555*	Somatic	0	36	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP							pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q2555*	ENST00000446378.2	37	c.7663	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	46	12.602527	0.99681	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.16	4.29	0.51040	.	0.302484	0.23782	N	0.044602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7649	0.51924	0.0:0.8239:0.1761:0.0	.	.	.	.	X	2555	.	ENSP00000394770:Q2555X	Q	+	1	0	CMYA5	79068007	0.975000	0.34042	0.613000	0.29037	0.384000	0.30261	2.182000	0.42556	1.384000	0.46424	0.462000	0.41574	CAG	-	NULL		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	C	NM_153610	-		79032251	1	no_errors	ENST00000446378	ensembl	human	known	74_37	nonsense	SNP	0.279	T	T	79032251	C	T	79032251	4	4	85	1	0	0	0	0	0	1	0	0	3592	711	25	2	7669	2	CMYA5	5	79032251	Nonsense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09		79032251	101883009	21	4779											
DMXL1	1657	genome.wustl.edu	37	chr5	118533525	118533525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaacaagttcttctccgacGacttgaaatccatggtgggc	11	10	2	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:118533525G>A	ENST00000311085.8	+	32	7699	c.7619G>A	c.(7618-7620)cGa>cAa	p.R2540Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2540Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2540										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTCTCCGACGACTTGAAATC	0.433																																																	0								ENSG00000172869						136	135	135					5																	118533525		2202	4300	6502	DMXL1	SO:0001583	missense	0			-	HGNC	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7619G>A	5.37:g.118533525G>A	ENSP00000309690:p.Arg2540Gln	Somatic	0	99	0		0.491148301723028	33	21.43	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	77	18.09		Missense_Mutation	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2540Q	ENST00000311085.8	37	c.7619	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989586	0.93106	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09723	2.96;2.95	5.41	5.41	0.78517	.	0.051242	0.85682	D	0.000000	T	0.17450	0.0419	L	0.47190	1.495	0.58432	D	0.999999	D;P	0.58268	0.982;0.895	P;B	0.48227	0.571;0.295	T	0.00857	-1.1538	10	0.30854	T	0.27	-8.6847	19.5578	0.95358	0.0:0.0:1.0:0.0	.	2540;2540	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	2540	ENSP00000309690:R2540Q;ENSP00000439479:R2540Q	ENSP00000309690:R2540Q	R	+	2	0	DMXL1	118561424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.173000	0.77612	2.695000	0.91970	0.563000	0.77884	CGA	-	NULL		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	G	NM_005509	-		118533525	1	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118533525	G	A	118533525	3	1	85	1	0	0	0	0	1	0	0	0	4596	1058	37	1	7745	1	DMXL1	5	118533525	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	39501274	118533525	62381735	22	4780											
SEC24A	10802	genome.wustl.edu	37	chr5	134050773	134050773	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcatttttgctatgtgtcaAgtgaaaaaccagcccttggt	9	9	1	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:134050773A>T	ENST00000398844.2	+	19	3075	c.2787A>T	c.(2785-2787)caA>caT	p.Q929H	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	929					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATGTGTCAAGTGAAAAACC	0.393																																																	0								ENSG00000113615						159	144	149					5																	134050773		1872	4110	5982	SEC24A	SO:0001583	missense	0			-	HGNC	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2787A>T	5.37:g.134050773A>T	ENSP00000381823:p.Gln929His	Somatic	0	77	0		0.491148301723028	47	30.43	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	38	43.28	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP							pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.Q929H	ENST00000398844.2	37	c.2787	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995446	0.74703	.	.	ENSG00000113615	ENST00000398844	D	0.89746	-2.56	5.93	5.93	0.95920	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.93858	0.8035	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.68192	0.817;0.956	D	0.92476	0.5989	10	0.18710	T	0.47	-12.4558	12.1777	0.54194	0.932:0.0:0.068:0.0	.	693;929	B4E205;O95486	.;SC24A_HUMAN	H	929	ENSP00000381823:Q929H	ENSP00000381823:Q929H	Q	+	3	2	SEC24A	134078672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.270000	0.75569	0.460000	0.39030	CAA	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom		0.393	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	protein_coding	OTTHUMT00000371563.1	A		-		134050773	1	no_errors	ENST00000398844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134050773	A	T	134050773	3	4	85	1	0	0	0	0	1	0	0	0	14002	69	3	5	2861	5	SEC24A	5	134050773	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09	15517248	134050773	46864487	23	4781											
MDC1	9656	genome.wustl.edu	37	chr6	30679822	30679822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaggtcctgctccacttGtgccacaggtggcccaccct	12	15	0	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:30679822G>T	ENST00000376406.3	-	5	2544	c.1897C>A	c.(1897-1899)Caa>Aaa	p.Q633K	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.Q633K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	633					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGCTCCACTTGTGCCACAGGT	0.602								Other conserved DNA damage response genes																																									0								ENSG00000137337						68	59	62					6																	30679822		1510	2709	4219	MDC1	SO:0001583	missense	0			-	HGNC	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1897C>A	6.37:g.30679822G>T	ENSP00000365588:p.Gln633Lys	Somatic	0	47	0		0.491148301723028	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP							pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.Q633K	ENST00000376406.3	37	c.1897	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	0.421	-0.908350	0.02434	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02369	4.4;4.32	4.57	2.69	0.31865	.	0.490323	0.15224	N	0.273784	T	0.00936	0.0031	L	0.44542	1.39	0.09310	N	1	B;B;P;B	0.38535	0.325;0.194;0.635;0.047	B;B;B;B	0.29077	0.074;0.074;0.098;0.037	T	0.50118	-0.8865	10	0.42905	T	0.14	-0.4669	6.8483	0.24000	0.0:0.1937:0.606:0.2003	.	633;505;633;633	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	K	633;633;633;505	ENSP00000365588:Q633K;ENSP00000365587:Q633K	ENSP00000365587:Q633K	Q	-	1	0	MDC1	30787801	0.001000	0.12720	0.052000	0.19188	0.916000	0.54674	0.669000	0.25142	2.378000	0.81104	0.462000	0.41574	CAA	-	NULL		0.602	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	protein_coding	OTTHUMT00000076103.1	G	NM_014641	-		30679822	-1	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	SNP	0.019	T	T	30679822	G	T	30679822	3	4	85	1	0	0	0	0	1	0	0	0	9405	1386	48	3	4416	3	MDC1	6	30679822	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		30679822	140435245	24	4782											
TNXB	7148	genome.wustl.edu	37	chr6	32032641	32032641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccacgcgctggccaccGtggaagccgtacaggttcat	14	14	1	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:32032641G>A	ENST00000375244.3	-	19	6999	c.6798C>T	c.(6796-6798)caC>caT	p.H2266H	TNXB_ENST00000375247.2_Silent_p.H2266H			P22105	TENX_HUMAN	tenascin XB	2338					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGGCCACCGTGGAAGCCGT	0.617																																																	0								ENSG00000168477						50	57	55					6																	32032641		1246	2545	3791	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6798C>T	6.37:g.32032641G>A		Somatic	0	81	0		0.491148301723028	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.H2266	ENST00000375244.3	37	c.6798		6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32032641	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	0.001	A	A	32032641	G	A	32032641	2	1	85	1	0	0	0	0	0	0	0	1	16353	1136	40	1		1	TNXB	6	32032641	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	1352819	32032641	139082426	25	4783											
COL11A2	1302	genome.wustl.edu	37	chr6	33156189	33156189	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accaaagatgatcactccatGggtgtccaatactggacgag	10	10	1	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:33156189G>C	ENST00000374708.4	-	4	814	c.556C>G	c.(556-558)Cat>Gat	p.H186D	COL11A2_ENST00000374712.1_Missense_Mutation_p.H186D|COL11A2_ENST00000361917.1_Missense_Mutation_p.H186D|COL11A2_ENST00000341947.2_Missense_Mutation_p.H186D|COL11A2_ENST00000374713.1_Missense_Mutation_p.H186D|COL11A2_ENST00000395194.1_Missense_Mutation_p.H186D|COL11A2_ENST00000395197.1_Missense_Mutation_p.H186D|COL11A2_ENST00000357486.1_Missense_Mutation_p.H186D|COL11A2_ENST00000374714.1_Missense_Mutation_p.H186D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	186	Laminin G-like.				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)			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						ATCACTCCATGGGTGTCCAAT	0.537																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						119	125	123					6																	33156189		1511	2709	4220	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.556C>G	6.37:g.33156189G>C	ENSP00000363840:p.His186Asp	Somatic	0	55	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.H186D	ENST00000374708.4	37	c.556	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463885	0.12402	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59	3.72	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.461581	0.19473	U	0.113388	T	0.00300	0.0009	N	0.00268	-1.735	0.29351	N	0.865314	P;B;B;P	0.43287	0.583;0.001;0.003;0.802	B;B;B;B	0.42771	0.397;0.003;0.003;0.333	T	0.34428	-0.9829	10	0.25751	T	0.34	.	8.5253	0.33302	0.0:0.0:0.58:0.42	.	186;186;186;186	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	D	186	ENSP00000363840:H186D;ENSP00000339915:H186D;ENSP00000350079:H186D;ENSP00000363846:H186D;ENSP00000363845:H186D;ENSP00000378623:H186D;ENSP00000363844:H186D;ENSP00000355123:H186D;ENSP00000405520:H186D;ENSP00000378620:H186D	ENSP00000339915:H186D	H	-	1	0	COL11A2	33264167	0.646000	0.27295	0.914000	0.36105	0.687000	0.40016	1.095000	0.30964	0.852000	0.35287	0.453000	0.30009	CAT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.537	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	G		-		33156189	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	0.941	C	C	33156189	G	C	33156189	3	2	85	1	0	0	0	0	1	0	0	0	3670	1348	47	4	4981	4	COL11A2	6	33156189	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	1123548	33156189	137958878	26	4784											
ITPR3	3710	genome.wustl.edu	37	chr6	33646250	33646250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaccagttcctgcagaAgttctgtgcagggaaccccg	11	14	1	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:33646250A>G	ENST00000374316.5	+	30	4761	c.3701A>G	c.(3700-3702)aAg>aGg	p.K1234R	ITPR3_ENST00000605930.1_Missense_Mutation_p.K1234R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1234					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)	TTCCTGCAGAAGTTCTGTGCA	0.632																																																	0								ENSG00000096433						71	64	66					6																	33646250		2203	4300	6503	ITPR3	SO:0001583	missense	0			-	HGNC	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.3701A>G	6.37:g.33646250A>G	ENSP00000363435:p.Lys1234Arg	Somatic	0	37	0		0.491148301723028	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	Q14649|Q5TAQ2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.K1234R	ENST00000374316.5	37	c.3701	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	A	34	5.364374	0.95877	.	.	ENSG00000096433	ENST00000374316	D	0.95377	-3.69	5.65	5.65	0.86999	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.50333	1.59	0.58432	D	0.999997	P	0.48294	0.908	P	0.52386	0.697	D	0.95422	0.8508	10	0.72032	D	0.01	-41.5509	15.8765	0.79166	1.0:0.0:0.0:0.0	.	1234	Q14573	ITPR3_HUMAN	R	1234	ENSP00000363435:K1234R	ENSP00000363435:K1234R	K	+	2	0	ITPR3	33754228	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.332000	0.96446	2.154000	0.67381	0.459000	0.35465	AAG	-	pfam_Ca-rel_channel		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	protein_coding	OTTHUMT00000040204.2	A	NM_002224	-		33646250	1	no_errors	ENST00000374316	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33646250	A	G	33646250	3	3	85	1	0	0	0	0	1	0	0	0	7924	72	3	5	3815	5	ITPR3	6	33646250	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09	490061	33646250	137468817	27	4785											
CTAGE9	643854	genome.wustl.edu	37	chr6	132031121	132031121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagctcttcctttgttttgTccacttcagataactgaata	5	9	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:132031121T>C	ENST00000314099.8	-	1	1085	c.1037A>G	c.(1036-1038)gAc>gGc	p.D346G	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	346						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTTTGTTTTGTCCACTTCAGA	0.323																																																	0								ENSG00000236761						1	1	1					6																	132031121		209	555	764	CTAGE9	SO:0001583	missense	0			-	HGNC		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1037A>G	6.37:g.132031121T>C	ENSP00000395587:p.Asp346Gly	Somatic	0	55	0		0.491148301723028	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95		Missense_Mutation	SNP							NULL	p.D346G	ENST00000314099.8	37	c.1037	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	7.453	0.643095	0.14451	.	.	ENSG00000236761	ENST00000314099	T	0.38401	1.14	.	.	.	.	.	.	.	.	T	0.35422	0.0931	M	0.88450	2.955	0.23855	N	0.996659	D	0.58970	0.984	P	0.59171	0.853	T	0.12293	-1.0553	8	0.35671	T	0.21	.	2.1243	0.03734	0.4998:2.0E-4:2.0E-4:0.4998	.	346	A4FU28	CTGE9_HUMAN	G	346	ENSP00000395587:D346G	ENSP00000395587:D346G	D	-	2	0	CTAGE9	132072814	0.875000	0.30112	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	0.000000	0.14550	0.000000	0.15137	GAC	-	NULL		0.323	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	protein_coding	OTTHUMT00000109220.1	T	NM_001145659	-		132031121	-1	no_errors	ENST00000314099	ensembl	human	known	74_37	missense	SNP	0.942	C	C	132031121	T	C	132031121	3	2	85	1	0	0	0	0	1	0	0	0	3998	1667	58	5	1300	5	CTAGE9	6	132031121	Missense_Mutation	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	98384871	132031121	39083946	28	4786											
ENPP1	5167	genome.wustl.edu	37	chr6	132185704	132185704	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtggctacagcttcctaaaGatgaaaggtctgtaggcaat	11	7	1	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:132185704G>A	ENST00000360971.2	+	10	1104	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	362	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|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 ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GCTTCCTAAAGATGAAAGGTC	0.299																																					Colon(104;336 1535 5856 11019 33782)												0								ENSG00000197594						78	75	76					6																	132185704		2203	4296	6499	ENPP1	SO:0001583	missense	0			-	HGNC	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1084G>A	6.37:g.132185704G>A	ENSP00000354238:p.Asp362Asn	Somatic	0	19	0		0.491148301723028	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.D362N	ENST00000360971.2	37	c.1084	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822964	0.32237	.	.	ENSG00000197594	ENST00000360971	T	0.74106	-0.81	5.98	2.22	0.28083	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.464926	0.24965	N	0.034192	T	0.30386	0.0763	N	0.25890	0.77	0.33269	D	0.560749	B	0.19583	0.037	B	0.21546	0.035	T	0.04607	-1.0939	10	0.08179	T	0.78	-7.6094	4.1728	0.10337	0.127:0.2328:0.5199:0.1204	.	362	P22413	ENPP1_HUMAN	N	362	ENSP00000354238:D362N	ENSP00000354238:D362N	D	+	1	0	ENPP1	132227397	0.058000	0.20735	0.658000	0.29665	0.747000	0.42532	0.604000	0.24164	0.124000	0.18369	0.650000	0.86243	GAT	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.299	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	protein_coding	OTTHUMT00000042238.2	G		-		132185704	1	no_errors	ENST00000360971	ensembl	human	known	74_37	missense	SNP	0.907	A	A	132185704	G	A	132185704	3	1	85	1	0	0	0	0	1	0	0	0	5131	942	33	2	1122	2	ENPP1	6	132185704	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	154583	132185704	38929363	29	4787											
TULP4	56995	genome.wustl.edu	37	chr6	158924606	158924606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacctccaaagccacttggGcacagaggtgatggtagaga	13	10	0	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:158924606G>A	ENST00000367097.3	+	13	5268	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1304					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCCACTTGGGCACAGAGGTG	0.582																																																	0								ENSG00000130338						55	59	57					6																	158924606		2203	4300	6503	TULP4	SO:0001583	missense	0			-	HGNC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3911G>A	6.37:g.158924606G>A	ENSP00000356064:p.Gly1304Asp	Somatic	0	66	0		0.491148301723028	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP							pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1304D	ENST00000367097.3	37	c.3911	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803059	0.70682	.	.	ENSG00000130338	ENST00000367097	T	0.64803	-0.12	5.18	5.18	0.71444	.	0.057950	0.64402	D	0.000001	T	0.62036	0.2395	L	0.59436	1.845	0.80722	D	1	D	0.54964	0.969	P	0.50490	0.642	T	0.63769	-0.6562	10	0.49607	T	0.09	-29.3102	18.8692	0.92306	0.0:0.0:1.0:0.0	.	1304	Q9NRJ4	TULP4_HUMAN	D	1304	ENSP00000356064:G1304D	ENSP00000356064:G1304D	G	+	2	0	TULP4	158844594	1.000000	0.71417	0.981000	0.43875	0.702000	0.40608	4.731000	0.62022	2.696000	0.92011	0.561000	0.74099	GGC	-	NULL		0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	protein_coding	OTTHUMT00000042869.1	G	NM_020245	-		158924606	1	no_errors	ENST00000367097	ensembl	human	known	74_37	missense	SNP	0.335	A	A	158924606	G	A	158924606	3	1	85	1	0	0	0	0	1	0	0	0	16783	1203	42	2	3961	2	TULP4	6	158924606	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	26738902	158924606	12190461	30	4788											
PACRG	135138	genome.wustl.edu	37	chr6	163483279	163483279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgagttttttgctcggcaagGaatccacgacatgctggaac	11	9	0	1	rs374040289		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:163483279G>T	ENST00000337019.3	+	4	613	c.389G>T	c.(388-390)gGa>gTa	p.G130V	PACRG_ENST00000366888.2_Missense_Mutation_p.G130V|PACRG_ENST00000366889.2_Missense_Mutation_p.G130V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	130					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GCTCGGCAAGGAATCCACGAC	0.433																																																	0								ENSG00000112530	G	VAL/GLY,VAL/GLY,VAL/GLY	0,4406		0,0,2203	101	96	98		389,389,389	4.8	1	6		98	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	PACRG	NM_001080378.1,NM_001080379.1,NM_152410.2	109,109,109	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	130/258,130/258,130/297	163483279	2,13004	2203	4300	6503	PACRG	SO:0001583	missense	0			-	HGNC	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.389G>T	6.37:g.163483279G>T	ENSP00000337946:p.Gly130Val	Somatic	0	47	0		0.491148301723028	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP							pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.G130V	ENST00000337019.3	37	c.389	CCDS5284.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.430739|4.430739	0.83776|0.83776	0.0|0.0	2.33E-4|2.33E-4	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T;T;T|.	0.66280|.	-0.13;-0.2;-0.2|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84520|0.84520	0.5490|0.5490	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.88560|0.88560	0.3122|0.3122	10|5	0.87932|.	D|.	0|.	-11.5199|-11.5199	18.3664|18.3664	0.90392|0.90392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	V|S	130|45	ENSP00000337946:G130V;ENSP00000355855:G130V;ENSP00000355854:G130V|.	ENSP00000337946:G130V|.	G|R	+|+	2|3	0|2	PACRG|PACRG	163403269|163403269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.366000|9.366000	0.97143|0.97143	2.401000|2.401000	0.81631|0.81631	0.609000|0.609000	0.83330|0.83330	GGA|AGG	-	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold		0.433	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	protein_coding	OTTHUMT00000400424.1	G	NM_152410	-		163483279	1	no_errors	ENST00000337019	ensembl	human	known	74_37	missense	SNP	1.000	T	T	163483279	G	T	163483279	3	4	85	1	0	0	0	0	1	0	0	0	11372	1174	41	3	399	3	PACRG	6	163483279	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	4558673	163483279	7631788	31	4789											
INTS1	26173	genome.wustl.edu	37	chr7	1538144	1538144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcattgaagatcaccaaCttgatggtggtgcccaggtt	11	9	2	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:1538144C>A	ENST00000404767.3	-	10	1414	c.1329G>T	c.(1327-1329)aaG>aaT	p.K443N	INTS1_ENST00000389470.4_Missense_Mutation_p.K571N|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	443					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGATCACCAACTTGATGGTGG	0.622																																																	0								ENSG00000164880						96	110	105					7																	1538144		2139	4239	6378	INTS1	SO:0001583	missense	0			-	HGNC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1329G>T	7.37:g.1538144C>A	ENSP00000385722:p.Lys443Asn	Somatic	0	80	0		0.491148301723028	68	11.69	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP							pfam_DUF3677,superfamily_ARM-type_fold	p.K571N	ENST00000404767.3	37	c.1713	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448908	0.63178	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.54675	2.43;0.56	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.73477	-0.3970	10	0.87932	D	0	.	12.4065	0.55443	0.0:0.9175:0.0:0.0825	.	571;443	A4D212;Q8N201	.;INT1_HUMAN	N	443;571	ENSP00000385722:K443N;ENSP00000374121:K571N	ENSP00000374121:K571N	K	-	3	2	INTS1	1504670	1.000000	0.71417	0.999000	0.59377	0.378000	0.30076	2.044000	0.41241	2.216000	0.71823	0.591000	0.81541	AAG	-	NULL		0.622	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	protein_coding	OTTHUMT00000323683.1	C		-		1538144	-1	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1538144	C	A	1538144	3	1	85	1	0	0	0	0	1	0	0	0	7777	564	20	3	5399	3	INTS1	7	1538144	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09		1538144	157600519	32	4790											
C7orf10	79783	genome.wustl.edu	37	chr7	40277290	40277290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatgatgctgttgcctcgGctgtttctggtctgatgcac	12	9	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:40277290G>A	ENST00000335693.4	+	7	585	c.562G>A	c.(562-564)Gct>Act	p.A188T	C7orf10_ENST00000401647.2_Missense_Mutation_p.A188T|C7orf10_ENST00000309930.5_Missense_Mutation_p.A188T	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		188					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						TGTTGCCTCGGCTGTTTCTGG	0.423																																																	0								ENSG00000175600						173	161	165					7																	40277290		1961	4168	6129	C7orf10	SO:0001583	missense	0			-	HGNC																												ENST00000335693.4:c.562G>A	7.37:g.40277290G>A	ENSP00000338475:p.Ala188Thr	Somatic	0	47	0		0.491148301723028	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	12.90	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP							pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.A188T	ENST00000335693.4	37	c.562	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771011	0.90108	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.92446	-3.04;-0.4;-0.4	5.35	5.35	0.76521	CoA-transferase family III domain (2);	0.093782	0.64402	N	0.000001	D	0.97377	0.9142	H	0.95365	3.66	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.70227	0.968;0.964;0.947	D	0.98274	1.0505	10	0.87932	D	0	-8.1766	19.0288	0.92946	0.0:0.0:1.0:0.0	.	188;188;151	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	T	188	ENSP00000312054:A188T;ENSP00000385222:A188T;ENSP00000338475:A188T	ENSP00000312054:A188T	A	+	1	0	C7orf10	40243815	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.243000	0.72384	2.675000	0.91044	0.655000	0.94253	GCT	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.423	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	protein_coding	OTTHUMT00000338388.1	G		-		40277290	1	no_errors	ENST00000309930	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40277290	G	A	40277290	3	1	85	1	0	0	0	0	1	0	0	0	2378	1203	42	2	477	2	C7orf10	7	40277290	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	38739146	40277290	118861373	33	4791											
NPC1L1	29881	genome.wustl.edu	37	chr7	44578865	44578865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacagctccacggggtcCgtagtgagttctgtaaagac	12	11	1	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:44578865C>T	ENST00000289547.4	-	2	1186	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	NPC1L1_ENST00000381160.3_Silent_p.T377T|NPC1L1_ENST00000423141.1_Silent_p.T377T|NPC1L1_ENST00000546276.1_Silent_p.T377T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	377					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACGGGGTCCGTAGTGAGTT	0.612																																																	0								ENSG00000015520						72	81	78					7																	44578865		2203	4300	6503	NPC1L1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1131G>A	7.37:g.44578865C>T		Somatic	0	55	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP							pfam_Patched,pfscan_SSD	p.T377	ENST00000289547.4	37	c.1131	CCDS5491.1	7																																																																																			-	NULL		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	protein_coding	OTTHUMT00000251256.1	C	NM_013389	-		44578865	-1	no_errors	ENST00000289547	ensembl	human	known	74_37	silent	SNP	0.015	T	T	44578865	C	T	44578865	2	4	85	1	0	0	0	0	0	0	0	1	10573	639	23	1		1	NPC1L1	7	44578865	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	4301575	44578865	114559798	34	4792											
TNS3	64759	genome.wustl.edu	37	chr7	47408586	47408586	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgactcccaaaagtccGctcccgctcataggggccgt	9	17	2	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:47408586G>T	ENST00000398879.1	-	17	2023	c.1657C>A	c.(1657-1659)Cgg>Agg	p.R553R	TNS3_ENST00000311160.9_Silent_p.R553R|TNS3_ENST00000355730.3_Silent_p.R313R			Q68CZ2	TENS3_HUMAN	tensin 3	553					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCAAAAGTCCGCTCCCGCTCA	0.627																																																	0								ENSG00000136205						39	43	42					7																	47408586		2039	4187	6226	TNS3	SO:0001819	synonymous_variant	0			-	HGNC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1657C>A	7.37:g.47408586G>T		Somatic	0	33	0		0.491148301723028	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP							pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R553	ENST00000398879.1	37	c.1657	CCDS5506.2	7																																																																																			-	NULL		0.627	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	protein_coding	OTTHUMT00000157253.1	G	NM_022748	-		47408586	-1	no_errors	ENST00000311160	ensembl	human	known	74_37	silent	SNP	0.699	T	T	47408586	G	T	47408586	2	4	85	1	0	0	0	0	0	0	0	1	16351	1086	38	3		3	TNS3	7	47408586	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	2829721	47408586	111730077	35	4793											
BAZ1B	9031	genome.wustl.edu	37	chr7	72912943	72912943	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaatcacaggcaccatcaGatttcttctcagtggcctct	8	12	5	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:72912943G>T	ENST00000339594.4	-	4	793	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S152Y	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	152	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCACCATCAGATTTCTTCTC	0.443																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0								ENSG00000009954						145	138	140					7																	72912943		2203	4300	6503	BAZ1B	SO:0001583	missense	0			-	HGNC	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.455C>A	7.37:g.72912943G>T	ENSP00000342434:p.Ser152Tyr	Somatic	0	39	0		0.491148301723028	74	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP							pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S152Y	ENST00000339594.4	37	c.455	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287101	0.59867	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60672	0.17;0.17	5.55	5.55	0.83447	.	0.259543	0.37623	N	0.002011	T	0.54191	0.1843	L	0.27053	0.805	0.43688	D	0.996138	D	0.62365	0.991	P	0.51999	0.687	T	0.45131	-0.9282	10	0.10902	T	0.67	-8.7753	18.0691	0.89400	0.0:0.0:1.0:0.0	.	152	Q9UIG0	BAZ1B_HUMAN	Y	152	ENSP00000342434:S152Y;ENSP00000385442:S152Y	ENSP00000342434:S152Y	S	-	2	0	BAZ1B	72550879	1.000000	0.71417	0.990000	0.47175	0.351000	0.29236	7.109000	0.77062	2.600000	0.87896	0.563000	0.77884	TCT	-	NULL		0.443	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	protein_coding	OTTHUMT00000252123.4	G	NM_032408	-		72912943	-1	no_errors	ENST00000339594	ensembl	human	known	74_37	missense	SNP	0.999	T	T	72912943	G	T	72912943	3	4	85	1	0	0	0	0	1	0	0	0	1330	942	33	3	4060	3	BAZ1B	7	72912943	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	25504357	72912943	86225720	36	4794											
ABHD11	83451	genome.wustl.edu	37	chr7	73150897	73150897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcaactcttagaccaGgaagcctcggatggcagcta	11	12	1	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:73150897G>A	ENST00000222800.3	-	6	1009	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000395147.4_Silent_p.L257L|ABHD11_ENST00000437775.2_Silent_p.L307L|LINC00035_ENST00000427153.1_RNA	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	314						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCTTAGACCAGGAAGCCTCGG	0.617																																																	0								ENSG00000106077						90	87	88					7																	73150897		2203	4300	6503	ABHD11	SO:0001819	synonymous_variant	0			-	HGNC	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.940C>T	7.37:g.73150897G>A		Somatic	0	54	0		0.491148301723028	81	1.22	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Silent	SNP							pfam_AB_hydrolase_1,pfam_PGAP1-like,pfam_Thioesterase,pfam_Esterase_put,prints_AB_hydrolase_1	p.L314	ENST00000222800.3	37	c.940	CCDS5558.1	7																																																																																			-	NULL		0.617	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD11	protein_coding	OTTHUMT00000252306.1	G		-		73150897	-1	no_errors	ENST00000222800	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73150897	G	A	73150897	2	1	85	1	0	0	0	0	0	0	0	1	75	991	35	2		2	ABHD11	7	73150897	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	237954	73150897	85987766	37	4795											
HIP1	3092	genome.wustl.edu	37	chr7	75185340	75185340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgacttgcctctgtgctgGccagtttgagctgagtgtcc	13	11	1	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:75185340G>A	ENST00000336926.6	-	18	1843	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	HIP1_ENST00000434438.2_Missense_Mutation_p.A606V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	606					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCTGTGCTGGCCAGTTTGAG	0.607			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0								ENSG00000127946						169	151	157					7																	75185340		2203	4300	6503	HIP1	SO:0001583	missense	0			-	HGNC	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1817C>T	7.37:g.75185340G>A	ENSP00000336747:p.Ala606Val	Somatic	0	42	0		0.491148301723028	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP							pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.A606V	ENST00000336926.6	37	c.1817	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098612	0.20552	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15256	2.68;2.44	5.29	3.45	0.39498	.	1.657620	0.02713	N	0.113045	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.22347	-1.0219	10	0.49607	T	0.09	-2.5951	7.3997	0.26956	0.0868:0.324:0.5891:0.0	.	606;606	E7ES17;O00291	.;HIP1_HUMAN	V	606	ENSP00000336747:A606V;ENSP00000410300:A606V	ENSP00000336747:A606V	A	-	2	0	HIP1	75023276	0.094000	0.21725	0.087000	0.20705	0.753000	0.42808	1.824000	0.39072	0.764000	0.33197	0.650000	0.86243	GCC	-	NULL		0.607	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	protein_coding	OTTHUMT00000342863.2	G	NM_005338	-		75185340	-1	no_errors	ENST00000336926	ensembl	human	known	74_37	missense	SNP	0.018	A	A	75185340	G	A	75185340	3	1	85	1	0	0	0	0	1	0	0	0	7116	1203	42	2	1352	2	HIP1	7	75185340	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	2034443	75185340	83953323	38	4796											
C7orf63	79846	genome.wustl.edu	37	chr7	89933287	89933287	+	Frame_Shift_Del	DEL	A	A	-													gctatccaatgattagatacAaaaaaacctctatttactag							TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:89933287delA	ENST00000389297.4	+	18	2306	c.2055delA	c.(2053-2055)acafs	p.T685fs	C7orf63_ENST00000497910.1_Frame_Shift_Del_p.T667fs|C7orf63_ENST00000316089.8_Intron	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		685										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GATTAGATACAAAAAAACCTC	0.308																																																	0								ENSG00000105792						96	85	88					7																	89933287		692	1591	2283	C7orf63	SO:0001589	frameshift_variant	0				HGNC																												ENST00000389297.4:c.2055delA	7.37:g.89933287delA	ENSP00000373948:p.Thr685fs	Somatic	0	55	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Frame_Shift_Del	DEL							superfamily_ARM-type_fold	p.K687fs	ENST00000389297.4	37	c.2055	CCDS43613.2	7																																																																																			-	NULL		0.308	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	protein_coding	OTTHUMT00000139891.4	A				89933287	1	no_errors	ENST00000389297	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	89933287	A	-	89933287	7	5	85	1	0	1	0	1	0	0	0	0	2411	117	5	0	2125	0	C7orf63	7	89933287	Frame_Shift_Del	DEL	A	TCGA-DX-A7EL-01A-12D-A36J-09	14747947	89933287	69205376	39	4797											
GNE	10020	genome.wustl.edu	37	chr9	36246334	36246334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaatcatgatatcagGcttcaggcgattaaggacat	9	7	3	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr9:36246334G>T	ENST00000539815.1	-	2	350	c.310C>A	c.(310-312)Cct>Act	p.P104T	GNE_ENST00000396594.3_Missense_Mutation_p.P135T|GNE_ENST00000539208.1_Missense_Mutation_p.P45T|GNE_ENST00000377902.5_Missense_Mutation_p.P104T|GNE_ENST00000447283.2_Missense_Mutation_p.P104T|GNE_ENST00000543356.2_Missense_Mutation_p.P99T			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	104					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ATGATATCAGGCTTCAGGCGA	0.522																																					GBM(184;106 2118 20004 35750 50727)												0								ENSG00000159921						77	67	71					9																	36246334		2203	4300	6503	GNE	SO:0001583	missense	0			-	HGNC	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.310C>A	9.37:g.36246334G>T	ENSP00000439155:p.Pro104Thr	Somatic	0	40	0		0.491148301723028	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP							pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.P135T	ENST00000539815.1	37	c.403	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425616	0.83667	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99876	-7.41;-7.41;-7.41;-7.41;-7.41	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.89095	3.005	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	0.998;0.999;1.0;0.999;0.999	D	0.96553	0.9409	10	0.87932	D	0	-9.0225	17.0847	0.86608	0.0:0.0:1.0:0.0	.	45;63;135;104;104	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	T	104;135;99;104;76;45;104	ENSP00000367134:P104T;ENSP00000379839:P135T;ENSP00000439155:P104T;ENSP00000445117:P45T;ENSP00000414760:P104T	ENSP00000340770:P99T	P	-	1	0	GNE	36236334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.029000	0.93718	2.627000	0.88993	0.467000	0.42956	CCT	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase		0.522	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	protein_coding	OTTHUMT00000052412.4	G	NM_005476	-		36246334	-1	no_errors	ENST00000396594	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36246334	G	T	36246334	3	4	85	1	0	0	0	0	1	0	0	0	6524	1203	42	3	1898	3	GNE	9	36246334	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		36246334	104967097	40	4798											
TXNDC8	255220	genome.wustl.edu	37	chr9	113091512	113091512	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagatttaagattcttacCggagaattgttcacatccac	7	8	2	4	rs200152415		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr9:113091512C>T	ENST00000374511.3	-	3	237	c.189G>A	c.(187-189)ccG>ccA	p.P63P	TXNDC8_ENST00000374507.4_Intron|TXNDC8_ENST00000423740.2_Intron|TXNDC8_ENST00000374510.4_Splice_Site_p.P63P			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	63	Thioredoxin.				acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGATTCTTACCGGAGAATTGT	0.294													C|||	1	0.000199681	8e-04	0	5008	,	,		18853	0		0	False		,,,				2504	0																0								ENSG00000204193	C		2,4402	4.2+/-10.8	0,2,2200	97	99	99		189	4.1	1	9		99	2,8588	2.2+/-6.3	0,2,4293	yes	coding-synonymous-near-splice	TXNDC8	NM_001003936.2		0,4,6493	TT,TC,CC		0.0233,0.0454,0.0308		63/116	113091512	4,12990	2202	4295	6497	TXNDC8	SO:0001630	splice_region_variant	0			-	HGNC	BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 3"						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.189+1G>A	9.37:g.113091512C>T		Somatic	0	74	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	A1L4I2|A6NDK7|Q5T934	Silent	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.P63	ENST00000374511.3	37	c.189		9																																																																																			-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.294	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC8	protein_coding		C	NM_001003936	rs200152415	Silent	113091512	-1	no_errors	ENST00000374511	ensembl	human	known	74_37	silent	SNP	0.964	T	T	113091512	C	T	113091512	5	4	85	1	0	0	0	0	0	0	1	0	16808	666	23	1	174	1	TXNDC8	9	113091512	Splice_Site	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	76845178	113091512	28121919	41	4799											
TOR1A	1861	genome.wustl.edu	37	chr9	132580862	132580862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctttgagcttgatgtcttCcctctgctttccactcctcc	6	15	3	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr9:132580862C>T	ENST00000351698.4	-	4	733	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	TOR1A_ENST00000473084.1_5'Flank	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	229	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGATGTCTTCCCTCTGCTTT	0.488																																																	0								ENSG00000136827						189	175	180					9																	132580862		2203	4300	6503	TOR1A	SO:0001583	missense	0			-	HGNC	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.685G>A	9.37:g.132580862C>T	ENSP00000345719:p.Glu229Lys	Somatic	0	92	0		0.491148301723028	126	40.85	87	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	51	31.08	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP							pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.E229K	ENST00000351698.4	37	c.685	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.335992	0.95758	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.40476	1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.73216	-0.4053	10	0.62326	D	0.03	-10.2461	19.8676	0.96824	0.0:1.0:0.0:0.0	.	229	O14656	TOR1A_HUMAN	K	198;229	ENSP00000345719:E229K	ENSP00000345719:E229K	E	-	1	0	TOR1A	131620683	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GAA	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr		0.488	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	protein_coding	OTTHUMT00000054611.1	C	NM_000113	-		132580862	-1	no_errors	ENST00000351698	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132580862	C	T	132580862	3	4	85	1	0	0	0	0	1	0	0	0	16378	864	30	2	321	2	TOR1A	9	132580862	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	19489350	132580862	8632569	42	4800											
SURF2	6835	genome.wustl.edu	37	chr9	136226880	136226882	+	In_Frame_Del	DEL	GGA	GGA	-													gcctgcctgcctggtgcaccGgaggaggaggagggaggacc					rs149969130		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr9:136226880_136226882delGGA	ENST00000371964.4	+	4	433_435	c.392_394delGGA	c.(391-396)cggagg>cgg	p.131_132RR>R	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	131						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTGGTGCACCGGAGGAGGAGGAG	0.635																																																	0								ENSG00000148291																																			SURF2	SO:0001651	inframe_deletion	0				HGNC		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.392_394delGGA	9.37:g.136226889_136226891delGGA	ENSP00000361032:p.Arg135del	Somatic	0	48	0		0.491148301723028	143	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q6IBP9|Q96CD1	In_Frame_Del	DEL							pfam_Surf2	p.R135in_frame_del	ENST00000371964.4	37	c.392_394	CCDS6967.1	9																																																																																			-	pfam_Surf2		0.635	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	protein_coding	OTTHUMT00000054883.1	GGA	NM_017503			136226882	1	no_errors	ENST00000371964	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.001:0.000	-	-	136226882	GGA	-	136226880	7	5	85	1	0	1	0	1	0	0	0	0	15411	1116	39	0	406	0	SURF2	9	136226880	In_Frame_Del	DEL	GGA	TCGA-DX-A7EL-01A-12D-A36J-09	3646018	136226880	4986551	43	4801											
TET1	80312	genome.wustl.edu	37	chr10	70432803	70432803	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaagctctcccttacatGtaagtgtccttctttattca	4	12	3	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr10:70432803G>A	ENST00000373644.4	+	8	5033		c.e8+1			NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1						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						TCCCTTACATGTAAGTGTCCT	0.318																																																	0								ENSG00000138336						95	89	91					10																	70432803		2203	4300	6503	TET1	SO:0001630	splice_region_variant	0			-	HGNC	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.4824+1G>A	10.37:g.70432803G>A		Somatic	0	86	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Splice_Site	SNP							-	e7+1	ENST00000373644.4	37	c.4824+1	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379149	0.82682	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TET1	70102809	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.451000	0.73481	2.779000	0.95612	0.591000	0.81541	.	-	-		0.318	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	G	NM_030625	-	Intron	70432803	1	no_errors	ENST00000373644	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	70432803	G	A	70432803	5	1	85	1	0	0	0	0	0	0	1	0	15776	1391	48	2	4851	2	TET1	10	70432803	Splice_Site	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		70432803	65101944	44	4802											
CYP2C19	1557	genome.wustl.edu	37	chr10	96609706	96609706	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacttccctcacttctgtGctacatgacaacaaagaatt	4	11	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr10:96609706G>T	ENST00000371321.3	+	8	1264	c.1182G>T	c.(1180-1182)gtG>gtT	p.V394V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	394					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCACTTCTGTGCTACATGACA	0.398																																																	0								ENSG00000165841						173	159	164					10																	96609706		2203	4300	6503	CYP2C19	SO:0001819	synonymous_variant	0			-	HGNC	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1182G>T	10.37:g.96609706G>T		Somatic	0	79	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.V394	ENST00000371321.3	37	c.1182	CCDS7436.1	10																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B		0.398	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	protein_coding	OTTHUMT00000049490.1	G	NM_000769	-		96609706	1	no_errors	ENST00000371321	ensembl	human	known	74_37	silent	SNP	1.000	T	T	96609706	G	T	96609706	2	4	85	1	0	0	0	0	0	0	0	1	4168	1306	46	3		3	CYP2C19	10	96609706	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	26176903	96609706	38925041	45	4803											
CD81	975	genome.wustl.edu	37	chr11	2417894	2417894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatcgatgacctcttctccGggaagctgtacctcatcggc	10	13	3	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:2417894G>C	ENST00000263645.5	+	7	854	c.598G>C	c.(598-600)Ggg>Cgg	p.G200R	CD81_ENST00000381036.3_Missense_Mutation_p.G238R|CD81_ENST00000526072.1_Missense_Mutation_p.G129R|CD81_ENST00000481687.1_Missense_Mutation_p.G206R|CD81_ENST00000492627.1_Missense_Mutation_p.G129R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	200					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTCTTCTCCGGGAAGCTGTA	0.677																																																	0								ENSG00000110651						94	89	91					11																	2417894		2202	4298	6500	CD81	SO:0001583	missense	0			-	HGNC		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.598G>C	11.37:g.2417894G>C	ENSP00000263645:p.Gly200Arg	Somatic	0	49	0		0.491148301723028	1929	41.46	1369	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	P18582|Q5U0J6	Missense_Mutation	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G200R	ENST00000263645.5	37	c.598	CCDS7734.1	11	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672820	0.47781	.	.	ENSG00000110651	ENST00000263645;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	3.39	3.39	0.38822	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.779778	0.12008	N	0.508137	D	0.86192	0.5874	N	0.25647	0.755	0.18873	N	0.999986	D;D	0.71674	0.998;0.973	D;P	0.65684	0.937;0.687	T	0.74411	-0.3674	10	0.33940	T	0.23	.	6.7103	0.23274	0.1299:0.0:0.8701:0.0	.	238;200	A6NMH8;P60033	.;CD81_HUMAN	R	200;129;189;238;193;129;206	ENSP00000263645:G200R;ENSP00000437242:G129R;ENSP00000433767:G189R;ENSP00000370424:G238R;ENSP00000432249:G193R;ENSP00000431780:G129R;ENSP00000432033:G206R	ENSP00000263645:G200R	G	+	1	0	CD81	2374470	0.984000	0.35163	0.975000	0.42487	0.952000	0.60782	2.994000	0.49433	1.919000	0.55581	0.462000	0.41574	GGG	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.677	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD81	protein_coding	OTTHUMT00000027357.4	G	NM_004356	-		2417894	1	no_errors	ENST00000263645	ensembl	human	known	74_37	missense	SNP	0.081	C	C	2417894	G	C	2417894	3	2	85	1	0	0	0	0	1	0	0	0	3041	1116	39	4	624	4	CD81	11	2417894	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		2417894	132588622	46	4804											
SOX6	55553	genome.wustl.edu	37	chr11	16119196	16119196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagcagcagcagctgCcattgttgatggaatgaact	11	9	0	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:16119196C>A	ENST00000352083.6	-	8	1014	c.937G>T	c.(937-939)Gca>Tca	p.A313S	SOX6_ENST00000528429.1_Missense_Mutation_p.A313S|SOX6_ENST00000527619.1_Missense_Mutation_p.A316S|SOX6_ENST00000528252.1_Missense_Mutation_p.A313S|SOX6_ENST00000316399.6_Missense_Mutation_p.A313S|SOX6_ENST00000396356.3_Missense_Mutation_p.A313S			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	313	Poly-Ala.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|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)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCAGCAGCTGCCATTGTTGAT	0.453																																																	0								ENSG00000110693						99	99	99					11																	16119196		2200	4294	6494	SOX6	SO:0001583	missense	0			-	HGNC	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.937G>T	11.37:g.16119196C>A	ENSP00000339876:p.Ala313Ser	Somatic	0	55	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A313S	ENST00000352083.6	37	c.937		11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858267	0.71834	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98849	-5.08;-5.06;-5.08;-5.18;-5.17;-5.06	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	L	0.49126	1.545	0.80722	D	1	D;D;D	0.71674	0.982;0.998;0.996	P;D;D	0.76071	0.885;0.979;0.987	D	0.98600	1.0658	10	0.31617	T	0.26	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	313;313;316	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	S	313;313;313;313;316;313	ENSP00000324948:A313S;ENSP00000339876:A313S;ENSP00000379644:A313S;ENSP00000432134:A313S;ENSP00000434455:A316S;ENSP00000433233:A313S	ENSP00000324948:A313S	A	-	1	0	SOX6	16075772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.563000	0.77884	GCA	-	NULL		0.453	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	protein_coding	OTTHUMT00000386811.1	C	NM_033326	-		16119196	-1	no_errors	ENST00000352083	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16119196	C	A	16119196	3	1	85	1	0	0	0	0	1	0	0	0	14963	739	26	3	1627	3	SOX6	11	16119196	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	13701302	16119196	118887320	47	4805											
ABCC8	6833	genome.wustl.edu	37	chr11	17449472	17449472	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attccatctggggtccacgtGaagtagcctcccatgatctt	9	12	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:17449472G>T	ENST00000389817.3	-	15	2126	c.2058C>A	c.(2056-2058)ttC>ttA	p.F686L	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Missense_Mutation_p.F686L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	686	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		F -> S (in HHF1). {ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:16357843}.		carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGGTCCACGTGAAGTAGCCTC	0.587																																																	0								ENSG00000006071						162	126	138					11																	17449472		2200	4293	6493	ABCC8	SO:0001583	missense	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2058C>A	11.37:g.17449472G>T	ENSP00000374467:p.Phe686Leu	Somatic	0	63	0		0.491148301723028	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F686L	ENST00000389817.3	37	c.2058	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284478	0.80803	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91631	-2.88;-2.88	5.3	4.38	0.52667	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.79805	2.47	0.54753	D	0.999982	P	0.45283	0.855	P	0.47251	0.542	D	0.93410	0.6768	10	0.87932	D	0	.	12.7833	0.57489	0.0808:0.0:0.9192:0.0	.	686	Q09428	ABCC8_HUMAN	L	686;686;690	ENSP00000374467:F686L;ENSP00000303960:F686L	ENSP00000303960:F686L	F	-	3	2	ABCC8	17406048	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.918000	0.63376	1.224000	0.43551	0.561000	0.74099	TTC	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	G	NM_000352	-		17449472	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17449472	G	T	17449472	3	4	85	1	0	0	0	0	1	0	0	0	58	1281	45	3	2787	3	ABCC8	11	17449472	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	1330276	17449472	117557044	48	4806											
USP28	57646	genome.wustl.edu	37	chr11	113711441	113711441	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttcacagcgttttctcTttgagcgtttagtttctgca	8	9	3	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:113711441T>G	ENST00000003302.4	-	5	481	c.413A>C	c.(412-414)aAg>aCg	p.K138T	USP28_ENST00000545540.1_Missense_Mutation_p.K13T|USP28_ENST00000260188.5_Missense_Mutation_p.K138T|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.K138T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	138					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCGTTTTCTCTTTGAGCGTTT	0.423																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0								ENSG00000048028						117	100	106					11																	113711441		2201	4296	6497	USP28	SO:0001583	missense	0			-	HGNC	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.413A>C	11.37:g.113711441T>G	ENSP00000003302:p.Lys138Thr	Somatic	0	61	0		0.491148301723028	16	44.83	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.K138T	ENST00000003302.4	37	c.413	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009498	0.75046	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	T;T;T;T	0.43294	1.25;1.26;0.95;1.67	5.75	5.75	0.90469	.	0.244071	0.46442	D	0.000297	T	0.65291	0.2677	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;1.0;0.983;0.971	D;D;P;P	0.87578	0.917;0.998;0.883;0.862	T	0.67681	-0.5608	10	0.54805	T	0.06	-28.7226	15.7118	0.77635	0.0:0.0:0.0:1.0	.	138;13;138;138	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	T	138;138;13;138;66	ENSP00000003302:K138T;ENSP00000260188:K138T;ENSP00000444991:K13T;ENSP00000445743:K138T	ENSP00000003302:K138T	K	-	2	0	USP28	113216651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.181000	0.69327	0.477000	0.44152	AAG	-	NULL		0.423	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	protein_coding	OTTHUMT00000398789.1	T		-		113711441	-1	no_errors	ENST00000003302	ensembl	human	known	74_37	missense	SNP	1.000	G	G	113711441	T	G	113711441	3	3	85	1	0	0	0	0	1	0	0	0	17065	1609	56	5	2904	5	USP28	11	113711441	Missense_Mutation	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	96261969	113711441	21295075	49	4807											
SIDT2	51092	genome.wustl.edu	37	chr11	117064673	117064673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccagggactcagcacCtggcaggtgagcactcaccc	10	15	3	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:117064673C>T	ENST00000324225.4	+	24	2847	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	SIDT2_ENST00000431081.2_Silent_p.T769T|SIDT2_ENST00000532062.1_Silent_p.T64T	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	772					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)		GACTCAGCACCTGGCAGGTGA	0.572																																																	0								ENSG00000149577						72	66	68					11																	117064673		2201	4296	6497	SIDT2	SO:0001819	synonymous_variant	0			-	HGNC	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.2316C>T	11.37:g.117064673C>T		Somatic	0	25	0		0.491148301723028	88	40.94	61	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	8	52.94	Q8NBY7|Q9Y357	Silent	SNP							NULL	p.T793	ENST00000324225.4	37	c.2379	CCDS31682.1	11																																																																																			-	NULL		0.572	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	protein_coding	OTTHUMT00000392836.1	C	NM_015996	-		117064673	1	no_errors	ENST00000278951	ensembl	human	known	74_37	silent	SNP	1.000	T	T	117064673	C	T	117064673	2	4	85	1	0	0	0	0	0	0	0	1	14311	668	24	2		2	SIDT2	11	117064673	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	3353232	117064673	17941843	50	4808											
HINFP	25988	genome.wustl.edu	37	chr11	119004898	119004898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacaagagggatcgggccTgggaacgtcgctgaacgaga	15	10	0	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:119004898T>C	ENST00000350777.2	+	10	1307	c.1244T>C	c.(1243-1245)cTg>cCg	p.L415P	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	415	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGATCGGGCCTGGGAACGTCG	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000172273						62	63	63					11																	119004898		2200	4295	6495	HINFP	SO:0001583	missense	0			-	HGNC	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1244T>C	11.37:g.119004898T>C	ENSP00000318085:p.Leu415Pro	Somatic	0	56	0	1492	0.491148301723028	44	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L415P	ENST00000350777.2	37	c.1244	CCDS8414.1	11	.	.	.	.	.	.	.	.	.	.	T	8.652	0.898551	0.17686	.	.	ENSG00000172273	ENST00000350777	T	0.08720	3.06	5.31	1.72	0.24424	.	0.364292	0.20332	N	0.094416	T	0.02727	0.0082	N	0.02916	-0.46	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	10	0.28530	T	0.3	-2.8576	3.2646	0.06860	0.2272:0.3059:0.0:0.4669	.	415	Q9BQA5	HINFP_HUMAN	P	415	ENSP00000318085:L415P	ENSP00000318085:L415P	L	+	2	0	HINFP	118510108	0.997000	0.39634	0.694000	0.30210	0.446000	0.32137	1.007000	0.29860	0.489000	0.27749	0.533000	0.62120	CTG	-	NULL		0.567	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	protein_coding	OTTHUMT00000388201.2	T	NM_015517	-		119004898	1	no_errors	ENST00000350777	ensembl	human	known	74_37	missense	SNP	0.130	C	C	119004898	T	C	119004898	3	2	85	1	0	0	0	0	1	0	0	0	7112	1580	55	5	1278	5	HINFP	11	119004898	Missense_Mutation	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	1940225	119004898	16001618	51	4809											
STT3A	3703	genome.wustl.edu	37	chr11	125472725	125472725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacctctgctgcaatctAccatgtactccattttttcc	4	14	3	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:125472725A>C	ENST00000529196.1	+	6	505	c.299A>C	c.(298-300)tAc>tCc	p.Y100S	STT3A_ENST00000531491.1_Missense_Mutation_p.Y8S|STT3A_ENST00000392708.4_Missense_Mutation_p.Y100S			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	100					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCTGCAATCTACCATGTACTC	0.453																																																	0								ENSG00000134910						239	208	219					11																	125472725		2201	4299	6500	STT3A	SO:0001583	missense	0			-	HGNC	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.299A>C	11.37:g.125472725A>C	ENSP00000436962:p.Tyr100Ser	Somatic	0	59	0		0.491148301723028	155	25.12	52	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP							pfam_Oligo_trans_STT3	p.Y100S	ENST00000529196.1	37	c.299	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784945	0.90282	.	.	ENSG00000134910	ENST00000527606;ENST00000392708;ENST00000529196;ENST00000531491;ENST00000525652;ENST00000529886	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.92923	3.36	0.80722	D	1	D;D	0.53885	0.963;0.963	D;P	0.64321	0.924;0.906	D	0.88548	0.3114	9	0.72032	D	0.01	-13.2495	15.9216	0.79580	1.0:0.0:0.0:0.0	.	8;100	E9PNQ1;P46977	.;STT3A_HUMAN	S	100;100;100;8;100;100	.	ENSP00000376472:Y100S	Y	+	2	0	STT3A	124977935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.291000	0.77112	0.533000	0.62120	TAC	-	pfam_Oligo_trans_STT3		0.453	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	protein_coding	OTTHUMT00000386691.1	A	NM_152713	-		125472725	1	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	SNP	1.000	C	C	125472725	A	C	125472725	3	2	85	1	0	0	0	0	1	0	0	0	15340	391	14	5	313	5	STT3A	11	125472725	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09	6467827	125472725	9533791	52	4810											
MYL6	4637	genome.wustl.edu	37	chr12	56553456	56553456	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgtgatgagggccctGggccagaaccctaccaacgc	15	12	0	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr12:56553456G>T	ENST00000550697.1	+	3	358	c.117G>T	c.(115-117)ctG>ctT	p.L39L	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548400.1_Intron|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000551589.1_Silent_p.L39L|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547408.1_Silent_p.L39L|MYL6_ENST00000547649.1_Silent_p.L39L|MYL6_ENST00000293422.5_Silent_p.L40L|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000536128.1_Silent_p.L132L|MYL6_ENST00000548293.1_Silent_p.L39L|MYL6_ENST00000348108.4_Silent_p.L40L	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TGAGGGCCCTGGGCCAGAACC	0.572																																																	0								ENSG00000092841						117	108	111					12																	56553456		2203	4300	6503	MYL6	SO:0001819	synonymous_variant	0			-	HGNC	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.117G>T	12.37:g.56553456G>T		Somatic	0	131	0		0.491148301723028	21242	0.11	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.00	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.L39	ENST00000550697.1	37	c.117	CCDS8906.1	12																																																																																			-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.572	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	protein_coding	OTTHUMT00000407928.3	G		-		56553456	1	no_errors	ENST00000547649	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56553456	G	T	56553456	2	4	85	1	0	0	0	0	0	0	0	1	10053	1335	47	3		3	MYL6	12	56553456	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		56553456	77298439	53	4811											
HELB	92797	genome.wustl.edu	37	chr12	66703801	66703801	+	Frame_Shift_Del	DEL	T	T	-													atgctgaaagagccatcgccTtttcaatttgtgacctgatg							TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr12:66703801delT	ENST00000247815.4	+	4	1152	c.1093delT	c.(1093-1095)tttfs	p.F365fs		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	365					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCCATCGCCTTTTCAATTTG	0.423																																																	0								ENSG00000127311						213	211	211					12																	66703801		2203	4300	6503	HELB	SO:0001589	frameshift_variant	0				HGNC	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1093delT	12.37:g.66703801delT	ENSP00000247815:p.Phe365fs	Somatic	0	42	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	A8K4C9|Q4G0T2|Q9H7L5	Frame_Shift_Del	DEL							superfamily_P-loop_NTPase	p.S366fs	ENST00000247815.4	37	c.1093	CCDS8976.1	12																																																																																			-	superfamily_P-loop_NTPase		0.423	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	protein_coding	OTTHUMT00000401919.1	T				66703801	1	no_errors	ENST00000247815	ensembl	human	known	74_37	frame_shift_del	DEL	0.098	-	-	66703801	T	-	66703801	7	5	85	1	0	1	0	1	0	0	0	0	7047	1609	56	0	1107	0	HELB	12	66703801	Frame_Shift_Del	DEL	T	TCGA-DX-A7EL-01A-12D-A36J-09	10150345	66703801	67148094	54	4812											
FANCM	57697	genome.wustl.edu	37	chr14	45633722	45633722	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtagaactggccgtaaacGtcaaggcaggatagttatta	13	6	1	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr14:45633722G>C	ENST00000267430.5	+	10	1827	c.1742G>C	c.(1741-1743)cGt>cCt	p.R581P	FANCM_ENST00000556036.1_Missense_Mutation_p.R581P|FANCM_ENST00000542564.2_Missense_Mutation_p.R555P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	581	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						GGCCGTAAACGTCAAGGCAGG	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0								ENSG00000187790						68	63	65					14																	45633722		2203	4300	6503	FANCM	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	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.1742G>C	14.37:g.45633722G>C	ENSP00000267430:p.Arg581Pro	Somatic	0	91	0		0.491148301723028	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	84	22.94	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R581P	ENST00000267430.5	37	c.1742	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.116284	0.94339	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.04758	3.56;3.56;3.56	6.07	6.07	0.98685	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.991	T	0.02477	-1.1153	10	0.87932	D	0	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	555;581;581	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	P	581;581;555	ENSP00000450596:R581P;ENSP00000267430:R581P;ENSP00000442493:R555P	ENSP00000267430:R581P	R	+	2	0	FANCM	44703472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.432000	0.97498	2.885000	0.99019	0.655000	0.94253	CGT	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.403	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	protein_coding	OTTHUMT00000410474.1	G	XM_048128	-		45633722	1	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	SNP	1.000	C	C	45633722	G	C	45633722	3	2	85	1	0	0	0	0	1	0	0	0	5673	1145	40	4	1780	4	FANCM	14	45633722	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		45633722	61715818	55	4813											
MPP5	64398	genome.wustl.edu	37	chr14	67787071	67787071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaatgaattgcgtcagagGctcatgaacaaagaaaagga	11	6	2	5	rs200780431		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr14:67787071G>T	ENST00000261681.4	+	12	2155	c.1494G>T	c.(1492-1494)agG>agT	p.R498S	MPP5_ENST00000555925.1_Missense_Mutation_p.R464S|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	498	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TGCGTCAGAGGCTCATGAACA	0.433																																																	0								ENSG00000072415						115	108	110					14																	67787071		2203	4300	6503	MPP5	SO:0001583	missense	0			-	HGNC	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1494G>T	14.37:g.67787071G>T	ENSP00000261681:p.Arg498Ser	Somatic	0	60	0		0.491148301723028	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R498S	ENST00000261681.4	37	c.1494	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998609	0.74818	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.40756	1.02;1.02	5.58	3.73	0.42828	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.042800	0.85682	D	0.000000	T	0.63510	0.2517	M	0.85945	2.785	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.65340	-0.6192	10	0.87932	D	0	.	8.1537	0.31156	0.3325:0.0:0.6675:0.0	.	498	Q8N3R9	MPP5_HUMAN	S	498;464	ENSP00000261681:R498S;ENSP00000451488:R464S	ENSP00000261681:R498S	R	+	3	2	MPP5	66856824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.664000	0.25068	0.792000	0.33850	0.655000	0.94253	AGG	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like		0.433	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	protein_coding	OTTHUMT00000412498.1	G	NM_022474	-		67787071	1	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67787071	G	T	67787071	3	4	85	1	0	0	0	0	1	0	0	0	9739	1194	42	3	1532	3	MPP5	14	67787071	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	22153349	67787071	39562469	56	4814											
PLCB2	5330	genome.wustl.edu	37	chr15	40590121	40590121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatgatgggatagggggAggtcttaaaggcgctttctg	17	5	2	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:40590121A>G	ENST00000260402.3	-	12	1444	c.1195T>C	c.(1195-1197)Tcc>Ccc	p.S399P	PLCB2_ENST00000557821.1_Missense_Mutation_p.S399P|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000456256.2_Missense_Mutation_p.S399P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	399	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGATAGGGGGAGGTCTTAAAG	0.542																																																	0								ENSG00000137841						100	120	113					15																	40590121		2145	4253	6398	PLCB2	SO:0001583	missense	0			-	HGNC		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1195T>C	15.37:g.40590121A>G	ENSP00000260402:p.Ser399Pro	Somatic	0	81	0		0.491148301723028	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	A8K6J2|B9EGH5	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S399P	ENST00000260402.3	37	c.1195	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647898	0.87958	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.60920	0.15;0.15	4.87	4.87	0.63330	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.84552	0.5497	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.927;0.999	D	0.90389	0.4394	10	0.87932	D	0	.	14.935	0.70948	1.0:0.0:0.0:0.0	.	399;399;399	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	P	399	ENSP00000260402:S399P;ENSP00000411991:S399P	ENSP00000260402:S399P	S	-	1	0	PLCB2	38377413	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.109000	0.94291	2.181000	0.69327	0.460000	0.39030	TCC	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.542	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	protein_coding	OTTHUMT00000418430.1	A		-		40590121	-1	no_errors	ENST00000260402	ensembl	human	known	74_37	missense	SNP	1.000	G	G	40590121	A	G	40590121	3	3	85	1	0	0	0	0	1	0	0	0	12030	304	11	5	2446	5	PLCB2	15	40590121	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09		40590121	61941271	57	4815											
CTDSPL2	51496	genome.wustl.edu	37	chr15	44811494	44811494	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagcctttgcatatcagGtaggaagaaagttgataaac	9	7	1	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:44811494G>T	ENST00000260327.4	+	11	1802		c.e11+1		CTDSPL2_ENST00000558966.1_Splice_Site|CTD-2329K10.1_ENST00000561324.1_RNA|CTDSPL2_ENST00000396780.1_Splice_Site|CTDSPL2_ENST00000558373.1_Splice_Site	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TGCATATCAGGTAGGAAGAAA	0.328																																																	0								ENSG00000137770						57	64	61					15																	44811494		2198	4296	6494	CTDSPL2	SO:0001630	splice_region_variant	0			-	HGNC	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1239+1G>T	15.37:g.44811494G>T		Somatic	0	114	0		0.491148301723028	0	87.5	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	46	34.29	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Splice_Site	SNP							-	e10+1	ENST00000260327.4	37	c.1239+1	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088020	0.76642	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9306	0.97117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTDSPL2	42598786	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.841000	0.99482	2.728000	0.93425	0.650000	0.86243	.	-	-		0.328	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	protein_coding	OTTHUMT00000253851.1	G	NM_016396	-	Intron	44811494	1	no_errors	ENST00000260327	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	44811494	G	T	44811494	5	4	85	1	0	0	0	0	0	0	1	0	4008	1275	44	3	1278	3	CTDSPL2	15	44811494	Splice_Site	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	4221373	44811494	57719898	58	4816											
SQRDL	58472	genome.wustl.edu	37	chr15	45951302	45951302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggaatcaccatggctgccCgcatgaagaggaaagtgggt	15	9	1	2	rs376077055		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:45951302C>A	ENST00000260324.7	+	2	567	c.181C>A	c.(181-183)Cgc>Agc	p.R61S	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.R61S|SQRDL_ENST00000568606.1_Missense_Mutation_p.R61S	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	61					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CATGGCTGCCCGCATGAAGAG	0.617																																																	0								ENSG00000137767						46	49	48					15																	45951302		2197	4297	6494	SQRDL	SO:0001583	missense	0			-	HGNC	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.181C>A	15.37:g.45951302C>A	ENSP00000260324:p.Arg61Ser	Somatic	0	31	0		0.491148301723028	257	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q9UQM8	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R61S	ENST00000260324.7	37	c.181	CCDS10127.1	15	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919424	0.73098	.	.	ENSG00000137767	ENST00000260324	T	0.47869	0.83	5.5	5.5	0.81552	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.35341	1.055	0.80722	D	1	B	0.31241	0.315	B	0.35073	0.195	T	0.17623	-1.0363	10	0.19590	T	0.45	.	17.9821	0.89145	0.0:1.0:0.0:0.0	.	61	Q9Y6N5	SQRD_HUMAN	S	61	ENSP00000260324:R61S	ENSP00000260324:R61S	R	+	1	0	SQRDL	43738594	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.226000	0.58606	2.580000	0.87095	0.655000	0.94253	CGC	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.617	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQRDL	protein_coding	OTTHUMT00000254319.2	C		-		45951302	1	no_errors	ENST00000260324	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45951302	C	A	45951302	3	1	85	1	0	0	0	0	1	0	0	0	15136	652	23	3	183	3	SQRDL	15	45951302	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	1139808	45951302	56580090	59	4817											
SECISBP2L	9728	genome.wustl.edu	37	chr15	49301523	49301523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcatacagtatggagaGttctgacttgctggagagag	15	5	2	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:49301523G>T	ENST00000559471.1	-	14	2180	c.1917C>A	c.(1915-1917)aaC>aaA	p.N639K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.N594K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	639							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						AGTATGGAGAGTTCTGACTTG	0.433																																																	0								ENSG00000138593						176	159	164					15																	49301523		2197	4295	6492	SECISBP2L	SO:0001583	missense	0			-	HGNC	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.1917C>A	15.37:g.49301523G>T	ENSP00000453854:p.Asn639Lys	Somatic	0	47	0		0.491148301723028	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q8N767	Missense_Mutation	SNP							pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.N639K	ENST00000559471.1	37	c.1917	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695351	0.68386	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72505	-0.66	5.07	-1.07	0.09968	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	L	0.50919	1.6	0.45962	D	0.998782	D;D	0.89917	0.999;1.0	D;D	0.74348	0.941;0.983	T	0.69859	-0.5031	10	0.07175	T	0.84	.	10.0224	0.42051	0.5793:0.0:0.4207:0.0	.	639;594	Q93073;Q93073-2	SBP2L_HUMAN;.	K	594;639	ENSP00000261847:N594K	ENSP00000261847:N594K	N	-	3	2	SECISBP2L	47088815	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	0.803000	0.27083	-0.061000	0.13110	0.655000	0.94253	AAC	-	NULL		0.433	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	protein_coding	OTTHUMT00000417277.1	G	NM_014701	-		49301523	-1	no_errors	ENST00000559471	ensembl	human	known	74_37	missense	SNP	0.997	T	T	49301523	G	T	49301523	3	4	85	1	0	0	0	0	1	0	0	0	14015	1020	36	3	1408	3	SECISBP2L	15	49301523	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	3350221	49301523	53229869	60	4818											
ZNF423	23090	genome.wustl.edu	37	chr16	49671660	49671660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaactgcatcacagggtagGcatggttcttgtgcagcttg	12	9	2	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr16:49671660G>T	ENST00000561648.1	-	4	1456	c.1403C>A	c.(1402-1404)gCc>gAc	p.A468D	ZNF423_ENST00000262383.2_Missense_Mutation_p.A468D|ZNF423_ENST00000535559.1_Missense_Mutation_p.A351D|ZNF423_ENST00000563137.2_Missense_Mutation_p.A408D|ZNF423_ENST00000562871.1_Missense_Mutation_p.A408D|ZNF423_ENST00000567169.1_Missense_Mutation_p.A351D|ZNF423_ENST00000562520.1_Missense_Mutation_p.A408D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	468					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACAGGGTAGGCATGGTTCTT	0.567																																																	0								ENSG00000102935						148	123	131					16																	49671660		2198	4300	6498	ZNF423	SO:0001583	missense	0			-	HGNC	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1403C>A	16.37:g.49671660G>T	ENSP00000455426:p.Ala468Asp	Somatic	0	64	0		0.491148301723028	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A468D	ENST00000561648.1	37	c.1403	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	4.043	0.005694	0.07866	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09538	2.97;3.05	5.05	5.05	0.67936	.	0.106857	0.64402	D	0.000006	T	0.08846	0.0219	N	0.24115	0.695	0.46654	D	0.999142	B	0.31680	0.335	B	0.28139	0.086	T	0.33085	-0.9882	9	.	.	.	.	18.4335	0.90634	0.0:0.0:1.0:0.0	.	468	Q2M1K9	ZN423_HUMAN	D	468;351	ENSP00000262383:A468D;ENSP00000442321:A351D	.	A	-	2	0	ZNF423	48229161	1.000000	0.71417	0.999000	0.59377	0.767000	0.43475	7.313000	0.78978	2.346000	0.79739	0.561000	0.74099	GCC	-	NULL		0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	protein_coding	OTTHUMT00000423258.1	G	NM_015069	-		49671660	-1	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49671660	G	T	49671660	3	4	85	1	0	0	0	0	1	0	0	0	17905	1203	42	3	2471	3	ZNF423	16	49671660	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		49671660	40683093	61	4819											
KLHL36	79786	genome.wustl.edu	37	chr16	84695592	84695592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagaccgtgcaggtgtaCgaccgcgaggccgacaagtg	14	12	0	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr16:84695592C>T	ENST00000564996.1	+	5	1845	c.1704C>T	c.(1702-1704)taC>taT	p.Y568Y	KLHL36_ENST00000258157.5_Silent_p.Y505Y	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	568					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGCAGGTGTACGACCGCGAGG	0.677																																																	0								ENSG00000135686						20	22	21					16																	84695592		2197	4296	6493	KLHL36	SO:0001819	synonymous_variant	0			-	HGNC	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1704C>T	16.37:g.84695592C>T		Somatic	0	85	0		0.491148301723028	70	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8N5G6|Q9H9U6	Silent	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y568	ENST00000564996.1	37	c.1704	CCDS10948.1	16																																																																																			-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.677	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	protein_coding	OTTHUMT00000269084.2	C		-		84695592	1	no_errors	ENST00000564996	ensembl	human	known	74_37	silent	SNP	0.995	T	T	84695592	C	T	84695592	2	4	85	1	0	0	0	0	0	0	0	1	8391	547	19	1		1	KLHL36	16	84695592	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	35023932	84695592	5659161	62	4820											
FBXO39	162517	genome.wustl.edu	37	chr17	6690669	6690669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagaggacaagaccctGcaggaaatttacaggaagta	11	6	0	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:6690669G>T	ENST00000321535.4	+	4	1381	c.1251G>T	c.(1249-1251)ctG>ctT	p.L417L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	417										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACAAGACCCTGCAGGAAATTT	0.418																																																	0								ENSG00000177294						134	128	130					17																	6690669		2203	4300	6503	FBXO39	SO:0001819	synonymous_variant	0			-	HGNC	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1251G>T	17.37:g.6690669G>T		Somatic	0	20	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08		Silent	SNP							NULL	p.L417	ENST00000321535.4	37	c.1251	CCDS11082.1	17																																																																																			-	NULL		0.418	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	protein_coding	OTTHUMT00000219866.2	G	NM_153230	-		6690669	1	no_errors	ENST00000321535	ensembl	human	known	74_37	silent	SNP	0.998	T	T	6690669	G	T	6690669	2	4	85	1	0	0	0	0	0	0	0	1	5749	1306	46	3		3	FBXO39	17	6690669	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		6690669	74504541	63	4821											
MYH8	4626	genome.wustl.edu	37	chr17	10323509	10323509	+	Frame_Shift_Del	DEL	A	A	-													aggtagggagcagcttcgccAaaaacagccatctcagcgtc							TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:10323509delA	ENST00000403437.2	-	3	130	c.36delT	c.(34-36)tttfs	p.F12fs	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	12					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGCTTCGCCAAAAACAGCCA	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0								ENSG00000133020						93	87	89					17																	10323509		2203	4300	6503	MYH8	SO:0001589	frameshift_variant	0	Familial Cancer Database	Carney Complex Variant		HGNC		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.36delT	17.37:g.10323509delA	ENSP00000384330:p.Phe12fs	Somatic	0	33	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q14910	Frame_Shift_Del	DEL							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F12fs	ENST00000403437.2	37	c.36	CCDS11153.1	17																																																																																			-	NULL		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	A	NM_002472			10323509	-1	no_errors	ENST00000403437	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	10323509	A	-	10323509	7	5	85	1	0	1	0	1	0	0	0	0	10043	127	5	0	5929	0	MYH8	17	10323509	Frame_Shift_Del	DEL	A	TCGA-DX-A7EL-01A-12D-A36J-09	3632840	10323509	70871701	64	4822											
ELAC2	60528	genome.wustl.edu	37	chr17	12906831	12906832	+	Frame_Shift_Del	DEL	CA	CA	-													tggtacctgctgtccacaagCacagatgctggggccatgtg							TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:12906831_12906832delCA	ENST00000338034.4	-	12	1282_1283	c.1043_1044delTG	c.(1042-1044)gtgfs	p.V348fs	ELAC2_ENST00000395962.2_Frame_Shift_Del_p.V329fs|ELAC2_ENST00000426905.3_Frame_Shift_Del_p.V308fs|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	348					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGTCCACAAGCACAGATGCTGG	0.579											OREG0024189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006744																																			ELAC2	SO:0001589	frameshift_variant	0				HGNC	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1043_1044delTG	17.37:g.12906833_12906834delCA	ENSP00000337445:p.Val348fs	Somatic	0	85	0	683	0.491148301723028	157	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	45	40.00	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Frame_Shift_Del	DEL							pfam_Beta-lactamas-like	p.V348fs	ENST00000338034.4	37	c.1044_1043	CCDS11164.1	17																																																																																			-	NULL		0.579	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	protein_coding	OTTHUMT00000129934.5	CA				12906832	-1	no_errors	ENST00000338034	ensembl	human	known	74_37	frame_shift_del	DEL	0.933:0.932	-	-	12906832	CA	-	12906831	7	5	85	1	0	1	0	1	0	0	0	0	5049	697	25	0	1488	0	ELAC2	17	12906831	Frame_Shift_Del	DEL	CA	TCGA-DX-A7EL-01A-12D-A36J-09	2583322	12906831	68288379	65	4823											
TEKT3	64518	genome.wustl.edu	37	chr17	15215789	15215789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttggcccaggactcaggCactgagacactgaaaaagag	11	9	1	3			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:15215789C>T	ENST00000395930.1	-	7	1074	c.888G>A	c.(886-888)gtG>gtA	p.V296V	TEKT3_ENST00000338696.2_Silent_p.V296V|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	296			V -> A (in dbSNP:rs6502446).		cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGGACTCAGGCACTGAGACAC	0.473																																																	0								ENSG00000125409						46	48	47					17																	15215789		2203	4300	6503	TEKT3	SO:0001819	synonymous_variant	0			-	HGNC	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.888G>A	17.37:g.15215789C>T		Somatic	0	40	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP							pfam_Tektin,prints_Tektin	p.V296	ENST00000395930.1	37	c.888	CCDS11169.1	17																																																																																			-	pfam_Tektin		0.473	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	protein_coding	OTTHUMT00000130385.2	C	NM_031898	-		15215789	-1	no_errors	ENST00000338696	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15215789	C	T	15215789	2	4	85	1	0	0	0	0	0	0	0	1	15761	697	25	2		2	TEKT3	17	15215789	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	2308958	15215789	65979421	66	4824											
NAGLU	4669	genome.wustl.edu	37	chr17	40695606	40695606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccctacagatgaataccAgcatctggtacaaccgatct	7	13	2	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:40695606A>G	ENST00000225927.2	+	6	1683	c.1582A>G	c.(1582-1584)Agc>Ggc	p.S528G	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	528					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GATGAATACCAGCATCTGGTA	0.632																																																	0								ENSG00000108784						25	23	24					17																	40695606		2191	4285	6476	NAGLU	SO:0001583	missense	0			-	HGNC		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1582A>G	17.37:g.40695606A>G	ENSP00000225927:p.Ser528Gly	Somatic	0	42	0		0.491148301723028	66	41.59	47	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00		Missense_Mutation	SNP							pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.S528G	ENST00000225927.2	37	c.1582	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	A	1.312	-0.601787	0.03744	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98649	-5.05	4.69	-1.85	0.07784	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.733388	0.14074	N	0.343180	D	0.94719	0.8296	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.88217	0.2894	10	0.20046	T	0.44	-0.7028	7.0095	0.24855	0.3119:0.0:0.5377:0.1504	.	528	P54802	ANAG_HUMAN	G	528;204	ENSP00000225927:S528G	ENSP00000225927:S528G	S	+	1	0	NAGLU	37949132	0.021000	0.18746	0.018000	0.16275	0.306000	0.27790	0.899000	0.28417	-0.143000	0.11334	0.459000	0.35465	AGC	-	pfam_NAGLU_tim-barrel		0.632	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	protein_coding	OTTHUMT00000450385.1	A	NM_000263	-		40695606	1	no_errors	ENST00000225927	ensembl	human	known	74_37	missense	SNP	0.010	G	G	40695606	A	G	40695606	3	3	85	1	0	0	0	0	1	0	0	0	10145	188	7	5	1604	5	NAGLU	17	40695606	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09	25479817	40695606	40499604	67	4825											
COL1A1	1277	genome.wustl.edu	37	chr17	48272451	48272451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttgctgccaggagcaCcaggttcaccctgcaagggg	12	14	1	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:48272451C>T	ENST00000225964.5	-	20	1428	c.1310G>A	c.(1309-1311)gGt>gAt	p.G437D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	437	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCCAGGAGCACCAGGTTCACC	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0								ENSG00000108821						54	57	56					17																	48272451		2203	4300	6503	COL1A1	SO:0001583	missense	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1310G>A	17.37:g.48272451C>T	ENSP00000225964:p.Gly437Asp	Somatic	0	42	0		0.491148301723028	935	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G437D	ENST00000225964.5	37	c.1310	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963467	0.53507	.	.	ENSG00000108821	ENST00000225964	D	0.99532	-6.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.98068	4.14	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96986	0.9718	10	0.87932	D	0	.	17.4882	0.87694	0.0:1.0:0.0:0.0	.	437	P02452	CO1A1_HUMAN	D	437	ENSP00000225964:G437D	ENSP00000225964:G437D	G	-	2	0	COL1A1	45627450	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	6.036000	0.70948	2.733000	0.93635	0.563000	0.77884	GGT	-	pfam_Collagen		0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	C		-		48272451	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48272451	C	T	48272451	3	4	85	1	0	0	0	0	1	0	0	0	3679	507	18	2	3212	2	COL1A1	17	48272451	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	7576845	48272451	32922759	68	4826											
CYP4F11	57834	genome.wustl.edu	37	chr19	16024597	16024597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaagtccaccctctgcgCgcaatatcagctcgggtttc	9	15	2	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr19:16024597C>T	ENST00000402119.4	-	12	1946	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F11_ENST00000248041.8_Missense_Mutation_p.R507H|CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R182H	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACCCTCTGCGCGCAATATCAG	0.612																																																	0								ENSG00000171903						61	55	57					19																	16024597		2203	4300	6503	CYP4F11	SO:0001583	missense	0			-	HGNC	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1520G>A	19.37:g.16024597C>T	ENSP00000384588:p.Arg507His	Somatic	0	79	0		0.491148301723028	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77		Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R507H	ENST00000402119.4	37	c.1520	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	c	12.70	2.017687	0.35606	.	.	ENSG00000171903	ENST00000402119;ENST00000248041	T;T	0.79845	-1.31;-1.31	2.74	0.475	0.16774	.	0.000000	0.64402	U	0.000011	D	0.86108	0.5854	M	0.86028	2.79	0.44719	D	0.997717	D	0.61697	0.99	P	0.60949	0.881	D	0.83488	0.0068	10	0.66056	D	0.02	.	6.7411	0.23437	0.0:0.742:0.0:0.258	.	507	Q9HBI6	CP4FB_HUMAN	H	507	ENSP00000384588:R507H;ENSP00000248041:R507H	ENSP00000248041:R507H	R	-	2	0	CYP4F11	15885597	1.000000	0.71417	0.056000	0.19401	0.001000	0.01503	5.003000	0.63959	0.052000	0.16007	-0.369000	0.07265	CGC	-	superfamily_Cyt_P450		0.612	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	protein_coding	OTTHUMT00000460385.2	C	NM_021187	-		16024597	-1	no_errors	ENST00000248041	ensembl	human	known	74_37	missense	SNP	0.800	T	T	16024597	C	T	16024597	3	4	85	1	0	0	0	0	1	0	0	0	4188	768	27	1	58	1	CYP4F11	19	16024597	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09		16024597	43104386	69	4827											
MORC3	23515	genome.wustl.edu	37	chr21	37741363	37741363	+	Frame_Shift_Del	DEL	C	C	-													gagtagtcagtttgaaaattCagtttataaaggtgatgatg							TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr21:37741363delC	ENST00000400485.1	+	15	1773	c.1697delC	c.(1696-1698)tcafs	p.S566fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	566					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)			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						TTTGAAAATTCAGTTTATAAA	0.333																																																	0								ENSG00000159256						86	77	80					21																	37741363		1877	4117	5994	MORC3	SO:0001589	frameshift_variant	0				HGNC	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.1697delC	21.37:g.37741363delC	ENSP00000383333:p.Ser566fs	Somatic	0	42	0		0.491148301723028	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8KA92|Q9UEZ2	Frame_Shift_Del	DEL							pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.S566fs	ENST00000400485.1	37	c.1697	CCDS42924.1	21																																																																																			-	NULL		0.333	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	protein_coding	OTTHUMT00000194640.1	C	NM_015358			37741363	1	no_errors	ENST00000400485	ensembl	human	known	74_37	frame_shift_del	DEL	0.728	-	-	37741363	C	-	37741363	7	5	85	1	0	1	0	1	0	0	0	0	9705	838	29	0	1755	0	MORC3	21	37741363	Frame_Shift_Del	DEL	C	TCGA-DX-A7EL-01A-12D-A36J-09		37741363	10388532	70	4828											
UMODL1	89766	genome.wustl.edu	37	chr21	43531405	43531405	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caggtgaaccccagccagcgGagcaccagccacgcgaactc	11	17	0	1			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr21:43531405G>T	ENST00000408910.2	+	11	1899				UMODL1_ENST00000408989.2_Silent_p.R691R|UMODL1_ENST00000400427.1_Silent_p.R619R|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400424.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCAGCCAGCGGAGCACCAGCC	0.731																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0								ENSG00000177398						5	7	6					21																	43531405		1792	3896	5688	UMODL1	SO:0001627	intron_variant	0			-	HGNC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1899+174G>T	21.37:g.43531405G>T		Somatic	0	24	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP							pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.R691	ENST00000408910.2	37	c.2073	CCDS42936.1	21																																																																																			-	NULL		0.731	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	protein_coding	OTTHUMT00000195292.2	G		-		43531405	1	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	SNP	0.000	T	T	43531405	G	T	43531405	1	4	85	0	1	0	0	0	0	0	0	0	16987	1161	41	3		3	UMODL1	21	43531405	Intron	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	5790042	43531405	4598490	71	4829											
HSF2BP	11077	genome.wustl.edu	37	chr21	45064234	45064234	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaagtgctcacaatccAttttcagctgctctaattct	4	11	4	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr21:45064234A>T	ENST00000291560.2	-	4	558	c.227T>A	c.(226-228)aTg>aAg	p.M76K	HSF2BP_ENST00000542962.1_Start_Codon_SNP_p.M1K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	76					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTCACAATCCATTTTCAGCTG	0.448																																																	0								ENSG00000160207						163	152	156					21																	45064234		2203	4300	6503	HSF2BP	SO:0001583	missense	0			-	HGNC	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.227T>A	21.37:g.45064234A>T	ENSP00000291560:p.Met76Lys	Somatic	0	44	0		0.491148301723028	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B4DX36	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.M76K	ENST00000291560.2	37	c.227	CCDS13697.1	21	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822794	0.50739	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	4.33	0.51752	.	0.346964	0.35646	N	0.003067	T	0.43831	0.1265	L	0.51422	1.61	0.80722	D	1	B	0.26547	0.152	B	0.21708	0.036	T	0.29488	-1.0010	9	0.02654	T	1	.	9.6638	0.39972	0.9208:0.0:0.0792:0.0	.	76	O75031	HSF2B_HUMAN	K	76;1;76	.	ENSP00000291560:M76K	M	-	2	0	HSF2BP	43888662	1.000000	0.71417	0.860000	0.33809	0.998000	0.95712	3.258000	0.51507	0.929000	0.37192	0.533000	0.62120	ATG	-	NULL		0.448	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	protein_coding	OTTHUMT00000195620.1	A	NM_007031	-		45064234	-1	no_errors	ENST00000291560	ensembl	human	known	74_37	missense	SNP	0.998	T	T	45064234	A	T	45064234	3	4	85	1	0	0	0	0	1	0	0	0	7399	217	8	5	801	5	HSF2BP	21	45064234	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09	1532829	45064234	3065661	72	4830											
LZTR1	8216	genome.wustl.edu	37	chr22	21336825	21336825	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaacagtgcatcgctggcgGcgcctcccgccctgcgacga	13	16	0	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:21336825G>C	ENST00000215739.8	+	1	524	c.165G>C	c.(163-165)cgG>cgC	p.R55R	LZTR1_ENST00000389355.3_Silent_p.R55R|LZTR1_ENST00000479606.1_Intron|XXbac-B135H6.18_ENST00000610278.1_lincRNA	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	55					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATCGCTGGCGGCGCCTCCCGC	0.662																																																	0								ENSG00000099949						27	25	25					22																	21336825		2203	4300	6503	LZTR1	SO:0001819	synonymous_variant	0			-	HGNC	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.165G>C	22.37:g.21336825G>C		Somatic	0	141	0		0.491148301723028	29	40.82	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	76	24.00	Q14776|Q20WK0	Silent	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R55	ENST00000215739.8	37	c.165	CCDS33606.1	22																																																																																			-	NULL		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	protein_coding	OTTHUMT00000320387.1	G	NM_006767	-		21336825	1	no_errors	ENST00000215739	ensembl	human	known	74_37	silent	SNP	0.999	C	C	21336825	G	C	21336825	2	2	85	1	0	0	0	0	0	0	0	1	9139	1190	42	4		4	LZTR1	22	21336825	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		21336825	29967741	73	4831											
MN1	4330	genome.wustl.edu	37	chr22	28194945	28194945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgctgctgCtgctgctgctgctgctgttg	14	11	0	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgctgct	0.647			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0								ENSG00000169184						3	5	4					22																	28194945		1291	2827	4118	MN1	SO:0001819	synonymous_variant	0			-	HGNC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1587G>A	22.37:g.28194945C>T		Somatic	0	61	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A9Z1V9	Silent	SNP							NULL	p.Q529	ENST00000302326.4	37	c.1587	CCDS42998.1	22																																																																																			-	NULL		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	protein_coding	OTTHUMT00000320737.1	C	NM_002430	-		28194945	-1	no_errors	ENST00000302326	ensembl	human	known	74_37	silent	SNP	0.972	T	T	28194945	C	T	28194945	2	4	85	1	0	0	0	0	0	0	0	1	9675	796	28	2		2	MN1	22	28194945	Silent	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	6858120	28194945	23109621	74	4832											
FOXRED2	80020	genome.wustl.edu	37	chr22	36894076	36894076	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcggccagcacaccgaacatCtggtagagcccagaagcctc	10	15	1	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:36894076C>G	ENST00000397224.4	-	6	1437	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	FOXRED2_ENST00000397223.4_Missense_Mutation_p.Q448H|FOXRED2_ENST00000216187.6_Missense_Mutation_p.Q448H|FOXRED2_ENST00000366463.3_5'UTR	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	448					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACCGAACATCTGGTAGAGCC	0.637																																																	0								ENSG00000100350						88	82	84					22																	36894076		2203	4300	6503	FOXRED2	SO:0001583	missense	0			-	HGNC	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1344G>C	22.37:g.36894076C>G	ENSP00000380401:p.Gln448His	Somatic	0	127	0		0.491148301723028	30	31.82	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Q448H	ENST00000397224.4	37	c.1344	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039313	0.75617	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.23552	1.9;1.9;1.9	5.07	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.84846	2.72	0.58432	D	0.999997	D	0.54772	0.968	P	0.55087	0.768	T	0.49542	-0.8929	10	0.56958	D	0.05	-33.2634	10.203	0.43097	0.0:0.8447:0.0:0.1553	.	448	Q8IWF2	FXRD2_HUMAN	H	448	ENSP00000380401:Q448H;ENSP00000216187:Q448H;ENSP00000380400:Q448H	ENSP00000216187:Q448H	Q	-	3	2	FOXRED2	35224022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.640000	0.37186	1.105000	0.41606	0.650000	0.86243	CAG	-	NULL		0.637	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	protein_coding	OTTHUMT00000104098.2	C	NM_024955	-		36894076	-1	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	SNP	1.000	G	G	36894076	C	G	36894076	3	3	85	1	0	0	0	0	1	0	0	0	6036	912	32	4	726	4	FOXRED2	22	36894076	Missense_Mutation	SNP	C	TCGA-DX-A7EL-01A-12D-A36J-09	8699131	36894076	14410490	75	4833											
NPTXR	23467	genome.wustl.edu	37	chr22	39222586	39222586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcccgggcactgagtaGgagaagggggtgccctggcc	18	12	0	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:39222586G>A	ENST00000333039.2	-	3	1140	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	339	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCACTGAGTAGGAGAAGGGGG	0.667																																					Pancreas(139;2521 3281 36965)												0								ENSG00000221890						67	64	65					22																	39222586		2203	4300	6503	NPTXR	SO:0001819	synonymous_variant	0			-	HGNC	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1017C>T	22.37:g.39222586G>A		Somatic	0	75	0		0.491148301723028	14	36.36	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00		Silent	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S339	ENST00000333039.2	37	c.1017	CCDS33647.1	22																																																																																			-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.667	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	protein_coding	OTTHUMT00000318194.2	G	NM_014293	-		39222586	-1	no_errors	ENST00000333039	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39222586	G	A	39222586	2	1	85	1	0	0	0	0	0	0	0	1	10606	987	35	2		2	NPTXR	22	39222586	Silent	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09	2328510	39222586	12081980	76	4834											
MOV10L1	54456	genome.wustl.edu	37	chr22	50558966	50558966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccaagttttcttccccAatatccaatcccagatagac	3	14	1	2			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:50558966A>G	ENST00000262794.5	+	10	1573	c.1490A>G	c.(1489-1491)cAa>cGa	p.Q497R	MOV10L1_ENST00000545383.1_Missense_Mutation_p.Q497R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.Q477R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.Q497R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	497					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCTTCCCCAATATCCAATC	0.368																																																	0								ENSG00000073146						113	115	114					22																	50558966		2203	4300	6503	MOV10L1	SO:0001583	missense	0			-	HGNC	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1490A>G	22.37:g.50558966A>G	ENSP00000262794:p.Gln497Arg	Somatic	0	100	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.Q497R	ENST00000262794.5	37	c.1490	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808939	0.31961	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85773	-1.84;-1.84;-1.43;-2.03	5.68	5.68	0.88126	.	0.562734	0.19264	N	0.118591	D	0.84674	0.5524	M	0.70275	2.135	0.80722	D	1	P;P;P;B	0.43094	0.799;0.682;0.554;0.411	P;B;B;B	0.45138	0.471;0.168;0.118;0.118	T	0.81200	-0.1041	10	0.18710	T	0.47	-21.3345	10.1935	0.43041	0.8514:0.0:0.0:0.1486	.	258;477;497;497	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	497;497;497;477	ENSP00000438978:Q497R;ENSP00000262794:Q497R;ENSP00000379199:Q497R;ENSP00000438542:Q477R	ENSP00000262794:Q497R	Q	+	2	0	MOV10L1	48901093	0.942000	0.31987	0.949000	0.38748	0.887000	0.51463	3.734000	0.55037	2.159000	0.67721	0.528000	0.53228	CAA	-	NULL		0.368	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	protein_coding	OTTHUMT00000075009.2	A	NM_018995	-		50558966	1	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	SNP	0.868	G	G	50558966	A	G	50558966	3	3	85	1	0	0	0	0	1	0	0	0	9721	130	5	5	1569	5	MOV10L1	22	50558966	Missense_Mutation	SNP	A	TCGA-DX-A7EL-01A-12D-A36J-09	11336380	50558966	745600	77	4835											
SSX1	6756	genome.wustl.edu	37	chrX	48125797	48125797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatttatgaagagatcaGtgaccctgaggaagatgacg	14	5	1	7			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chrX:48125797G>T	ENST00000376919.3	+	7	678	c.542G>T	c.(541-543)aGt>aTt	p.S181I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAAGAGATCAGTGACCCTGAG	0.493			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)			Dom	yes		X	Xp11.23-p11.22	6756	"synovial sarcoma, X breakpoint 1"		M	0								ENSG00000126752						319	297	305					X																	48125797		1511	2706	4217	SSX1	SO:0001583	missense	0			-	HGNC	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.542G>T	X.37:g.48125797G>T	ENSP00000366118:p.Ser181Ile	Somatic	0	353	0		0.491148301723028	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	140	36.65	A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP							pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S181I	ENST00000376919.3	37	c.542	CCDS14290.1	X	.	.	.	.	.	.	.	.	.	.	N	14.28	2.489388	0.44249	.	.	ENSG00000126752	ENST00000376919	T	0.15487	2.42	2.39	2.39	0.29439	SSXRD motif (1);	0.249770	0.28971	N	0.013550	T	0.20820	0.0501	L	0.61218	1.895	0.24345	N	0.994946	P	0.36789	0.57	B	0.42386	0.386	T	0.09314	-1.0680	10	0.87932	D	0	.	7.6005	0.28073	0.0:0.0:1.0:0.0	.	181	Q16384	SSX1_HUMAN	I	181	ENSP00000366118:S181I	ENSP00000366118:S181I	S	+	2	0	SSX1	48010741	0.992000	0.36948	0.743000	0.31040	0.157000	0.22087	2.968000	0.49224	1.493000	0.48517	0.380000	0.24917	AGT	-	pfam_SSXRD_motif		0.493	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	protein_coding	OTTHUMT00000056485.1	G	NM_005635	-		48125797	1	no_errors	ENST00000376919	ensembl	human	known	74_37	missense	SNP	0.735	T	T	48125797	G	T	48125797	3	4	85	1	0	0	0	0	1	0	0	0	15210	1029	36	3	564	3	SSX1	23	48125797	Missense_Mutation	SNP	G	TCGA-DX-A7EL-01A-12D-A36J-09		48125797	107144763	78	4836											
GATA1	2623	genome.wustl.edu	37	chrX	48651599	48651599	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcagtaaacgggcaggTactcagtgcaccaactgcca	10	11	2	0			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chrX:48651599T>C	ENST00000376670.3	+	5	876	c.765T>C	c.(763-765)ggT>ggC	p.G255G	GATA1_ENST00000376665.3_Silent_p.G255G	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	255					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AACGGGCAGGTACTCAGTGCA	0.587			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0								ENSG00000102145						162	110	128					X																	48651599		2203	4300	6503	GATA1	SO:0001819	synonymous_variant	0			-	HGNC	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.765T>C	X.37:g.48651599T>C		Somatic	0	86	0		0.491148301723028	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q96GB8	Silent	SNP							pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G255	ENST00000376670.3	37	c.765	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	t	9.883	1.202121	0.22121	.	.	ENSG00000102145	ENST00000447551	.	.	.	4.01	-0.008	0.14007	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22591	-1.0212	4	.	.	.	-9.2994	0.3754	0.00386	0.1869:0.2486:0.1882:0.3763	.	.	.	.	A	20	.	.	V	+	2	0	GATA1	48536543	0.037000	0.19845	0.997000	0.53966	0.920000	0.55202	-1.020000	0.03618	-0.156000	0.11079	0.237000	0.17872	GTA	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA		0.587	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	protein_coding	OTTHUMT00000056517.1	T	NM_002049	-		48651599	1	no_errors	ENST00000376670	ensembl	human	known	74_37	silent	SNP	0.957	C	C	48651599	T	C	48651599	2	2	85	1	0	0	0	0	0	0	0	1	6255	1625	57	5		5	GATA1	23	48651599	Silent	SNP	T	TCGA-DX-A7EL-01A-12D-A36J-09	525802	48651599	106618961	79	4837											
CYP4A11	1579	genome.wustl.edu	37	chr1	47400674	47400674	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaaaagacagaacctGtgtgctgatgggccagctgg	15	7	0	4			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr1:47400674G>C	ENST00000310638.4	-	6	819	c.788C>G	c.(787-789)aCa>aGa	p.T263R	CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.T263R|CYP4A11_ENST00000371905.1_Missense_Mutation_p.T263R|CYP4A11_ENST00000496519.1_5'Flank	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	263					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GACAGAACCTGTGTGCTGATG	0.582																																																	0								ENSG00000187048						117	115	116					1																	47400674		2203	4300	6503	CYP4A11	SO:0001583	missense	0			-	HGNC	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.788C>G	1.37:g.47400674G>C	ENSP00000311095:p.Thr263Arg	Somatic	0	56	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.T263R	ENST00000310638.4	37	c.788	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	N	23.1	4.373327	0.82573	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70045	-0.45;-0.34;-0.45	5.13	5.13	0.70059	.	0.053373	0.64402	D	0.000001	D	0.85230	0.5649	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88034	0.2777	10	0.87932	D	0	.	18.9327	0.92572	0.0:0.0:1.0:0.0	.	263	Q02928	CP4AB_HUMAN	R	263	ENSP00000311095:T263R;ENSP00000360971:T263R;ENSP00000360972:T263R	ENSP00000311095:T263R	T	-	2	0	CYP4A11	47173261	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.032000	0.88838	2.551000	0.86045	0.650000	0.86243	ACA	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.582	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	protein_coding	OTTHUMT00000022022.1	G	NM_000778	-		47400674	-1	no_errors	ENST00000371904	ensembl	human	known	74_37	missense	SNP	1.000	C	C	47400674	G	C	47400674	3	2	86	1	0	0	0	0	1	0	0	0	4185	1377	48	4	799	4	CYP4A11	1	47400674	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		47400674	201849947	1	4838											
CCDC18	343099	genome.wustl.edu	37	chr1	93730316	93730316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgctgactctcaaaagtCttctgttcagcaactaaacg	6	11	5	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr1:93730316C>T	ENST00000343253.7	+	27	4242	c.3740C>T	c.(3739-3741)tCt>tTt	p.S1247F	RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000602488.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|CCDC18_ENST00000334652.5_3'UTR|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|CCDC18_ENST00000401026.3_Missense_Mutation_p.S1248F|CCDC18_ENST00000338949.4_3'UTR|RP4-717I23.3_ENST00000451302.2_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|CCDC18_ENST00000557479.1_Missense_Mutation_p.S1366F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1247										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTCAAAAGTCTTCTGTTCAG	0.353																																																	0								ENSG00000122483						91	85	86					1																	93730316		1856	4099	5955	CCDC18	SO:0001583	missense	0			-	HGNC			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3740C>T	1.37:g.93730316C>T	ENSP00000343377:p.Ser1247Phe	Somatic	0	78	0		0.513044603562384	31	13.89	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	Q6ZU17	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S1366F	ENST00000343253.7	37	c.4097		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.80|12.80	2.045600|2.045600	0.36085|0.36085	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.77|5.77	3.84|3.84	0.44239|0.44239	.|.	.|0.550760	.|0.19223	.|N	.|0.119626	T|T	0.31295|0.31295	0.0792|0.0792	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|P;B	.|0.50617	.|0.937;0.384	.|P;B	.|0.53809	.|0.735;0.405	T|T	0.13442|0.13442	-1.0509|-1.0509	5|9	.|0.33141	.|T	.|0.24	.|.	12.839|12.839	0.57790|0.57790	0.0:0.6865:0.3135:0.0|0.0:0.6865:0.3135:0.0	.|.	.|166;1366	.|Q5T9S4;G3V388	.|.;.	F|F	1301|1247;1248;1366	.|.	.|ENSP00000343377:S1247F	L|S	+|+	1|2	0|0	CCDC18|CCDC18	93502904|93502904	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	0.985000|0.985000	0.29578|0.29578	0.748000|0.748000	0.32831|0.32831	0.591000|0.591000	0.81541|0.81541	CTT|TCT	-	superfamily_tRNA-bd_arm		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	protein_coding	OTTHUMT00000382327.1	C	NM_206886	-		93730316	1	no_errors	ENST00000557479	ensembl	human	known	74_37	missense	SNP	0.998	T	T	93730316	C	T	93730316	3	4	86	1	0	0	0	0	1	0	0	0	2796	913	32	2	4203	2	CCDC18	1	93730316	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	46329642	93730316	155520305	2	4839											
ABCA4	24	genome.wustl.edu	37	chr1	94497568	94497568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagcaggggtgtcggggGttgacgttttctcttttctg	14	9	2	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr1:94497568G>A	ENST00000370225.3	-	27	3980	c.3894C>T	c.(3892-3894)aaC>aaT	p.N1298N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1298					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)		GGTGTCGGGGGTTGACGTTTT	0.527																																																	0								ENSG00000198691						61	69	66					1																	94497568		2203	4299	6502	ABCA4	SO:0001819	synonymous_variant	0			-	HGNC	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.3894C>T	1.37:g.94497568G>A		Somatic	0	111	0		0.513044603562384	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	30	60.53	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.N1298	ENST00000370225.3	37	c.3894	CCDS747.1	1																																																																																			-	tigrfam_Rim_ABC_transpt		0.527	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	G	NM_000350	-		94497568	-1	no_errors	ENST00000370225	ensembl	human	known	74_37	silent	SNP	0.000	A	A	94497568	G	A	94497568	2	1	86	1	0	0	0	0	0	0	0	1	34	1252	44	2		2	ABCA4	1	94497568	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	767252	94497568	154753053	3	4840											
URB2	9816	genome.wustl.edu	37	chr1	229773015	229773015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtgacttccctatccaGctggagggagagcagttgga	14	8	0	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr1:229773015G>A	ENST00000258243.2	+	4	2791	c.2655G>A	c.(2653-2655)caG>caA	p.Q885Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	885						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCCTATCCAGCTGGAGGGAG	0.488																																																	0								ENSG00000135763						118	117	117					1																	229773015		2203	4300	6503	URB2	SO:0001819	synonymous_variant	0			-	HGNC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2655G>A	1.37:g.229773015G>A		Somatic	0	58	0		0.513044603562384	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5VYC9	Silent	SNP							pfam_Urb2/Npa2_C	p.Q885	ENST00000258243.2	37	c.2655	CCDS31052.1	1																																																																																			-	NULL		0.488	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	G	NM_014777	-		229773015	1	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	SNP	0.001	A	A	229773015	G	A	229773015	2	1	86	1	0	0	0	0	0	0	0	1	17032	962	34	2		2	URB2	1	229773015	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	135275447	229773015	19477606	4	4841											
KCNK1	3775	genome.wustl.edu	37	chr1	233802387	233802387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggtaaggccttctgCatcatctactccgtcattgg	11	10	4	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr1:233802387C>T	ENST00000366621.3	+	2	570	c.402C>T	c.(400-402)tgC>tgT	p.C134C	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.C18C	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	134					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	AGGCCTTCTGCATCATCTACT	0.567																																																	0								ENSG00000135750						213	145	168					1																	233802387		2203	4300	6503	KCNK1	SO:0001819	synonymous_variant	0			-	HGNC	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.402C>T	1.37:g.233802387C>T		Somatic	0	62	0		0.513044603562384	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q13307|Q5T5E8	Silent	SNP							pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.C134	ENST00000366621.3	37	c.402	CCDS1599.1	1																																																																																			-	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl		0.567	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	protein_coding	OTTHUMT00000092565.1	C	NM_002245	-		233802387	1	no_errors	ENST00000366621	ensembl	human	known	74_37	silent	SNP	1.000	T	T	233802387	C	T	233802387	2	4	86	1	0	0	0	0	0	0	0	1	8060	718	25	2		2	KCNK1	1	233802387	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	4029372	233802387	15448234	5	4842											
OR11L1	391189	genome.wustl.edu	37	chr1	248005032	248005032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatgtacataggggagTgcagtcgcaggccctggctc	15	10	0	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr1:248005032T>C	ENST00000355784.2	-	1	222	c.167A>G	c.(166-168)cAc>cGc	p.H56R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	56						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATAGGGGAGTGCAGTCGCAG	0.557																																																	0								ENSG00000197591						75	66	69					1																	248005032		2203	4300	6503	OR11L1	SO:0001583	missense	0			-	HGNC	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.167A>G	1.37:g.248005032T>C	ENSP00000348033:p.His56Arg	Somatic	0	74	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.H56R	ENST00000355784.2	37	c.167	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	T	8.565	0.878660	0.17395	.	.	ENSG00000197591	ENST00000355784	T	0.15952	2.38	4.2	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.198503	0.24532	N	0.037718	T	0.17492	0.0420	L	0.61036	1.89	0.20563	N	0.999885	B	0.20780	0.048	B	0.25614	0.062	T	0.19910	-1.0291	10	0.62326	D	0.03	.	7.435	0.27150	0.0:0.2296:0.0:0.7704	.	56	Q8NGX0	O11L1_HUMAN	R	56	ENSP00000348033:H56R	ENSP00000348033:H56R	H	-	2	0	OR11L1	246071655	0.800000	0.28916	0.217000	0.23759	0.500000	0.33767	1.225000	0.32551	0.161000	0.19458	0.443000	0.29094	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	protein_coding	OTTHUMT00000096850.1	T	NM_001001959	-		248005032	-1	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	SNP	0.663	C	C	248005032	T	C	248005032	3	2	86	1	0	0	0	0	1	0	0	0	10932	1696	59	5	805	5	OR11L1	1	248005032	Missense_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	14202645	248005032	1245589	6	4843											
SEMA4F	10505	genome.wustl.edu	37	chr2	74903023	74903023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtgtgtggcccatgccGgggagcaccgagggtgagtg	19	8	0	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:74903023G>A	ENST00000357877.2	+	12	1779	c.1630G>A	c.(1630-1632)Ggg>Agg	p.G544R	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.G389R	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	544	PSI.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGCCCATGCCGGGGAGCACCG	0.582																																																	0								ENSG00000135622						65	63	64					2																	74903023		2203	4300	6503	SEMA4F	SO:0001583	missense	0			-	HGNC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1630G>A	2.37:g.74903023G>A	ENSP00000350547:p.Gly544Arg	Somatic	0	44	0		0.513044603562384	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q542Y7|Q9NS35	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.G544R	ENST00000357877.2	37	c.1630	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	4.976	0.181258	0.09495	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.18960	2.18;2.18	4.38	4.38	0.52667	.	1.135720	0.07189	U	0.855427	T	0.20780	0.0500	L	0.33485	1.01	0.09310	N	0.999991	B;B	0.30021	0.227;0.265	B;B	0.26094	0.04;0.066	T	0.20638	-1.0269	10	0.66056	D	0.02	.	14.4764	0.67548	0.0:0.0:1.0:0.0	.	389;544	O95754-2;O95754	.;SEM4F_HUMAN	R	544;389	ENSP00000350547:G544R;ENSP00000342675:G389R	ENSP00000342675:G389R	G	+	1	0	SEMA4F	74756531	0.010000	0.17322	0.669000	0.29828	0.042000	0.13812	0.828000	0.27435	2.280000	0.76307	0.467000	0.42956	GGG	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold		0.582	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	protein_coding	OTTHUMT00000252214.2	G	NM_004263	-		74903023	1	no_errors	ENST00000357877	ensembl	human	known	74_37	missense	SNP	0.161	A	A	74903023	G	A	74903023	3	1	86	1	0	0	0	0	1	0	0	0	14043	1116	39	1	1676	1	SEMA4F	2	74903023	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		74903023	168296350	7	4844											
MARCH7	64844	genome.wustl.edu	37	chr2	160604560	160604560	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtagagatgaagccccaatCataagcaattcagaaagggt	10	7	2	3	rs375346228		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:160604560C>G	ENST00000259050.4	+	5	881	c.759C>G	c.(757-759)atC>atG	p.I253M	MARCH7_ENST00000409175.1_Missense_Mutation_p.I253M|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.I215M|MARCH7_ENST00000539065.1_Missense_Mutation_p.I197M	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	253	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAGCCCCAATCATAAGCAATT	0.398																																																	0								ENSG00000136536						43	42	43					2																	160604560		2203	4300	6503	MARCH7	SO:0001583	missense	0			-	HGNC	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.759C>G	2.37:g.160604560C>G	ENSP00000259050:p.Ile253Met	Somatic	0	74	0		0.513044603562384	24	42.86	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.I253M	ENST00000259050.4	37	c.759	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	C	9.329	1.060078	0.19987	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.11821	2.75;2.75;2.75;2.74	5.87	1.38	0.22167	.	0.613165	0.17128	N	0.185927	T	0.05318	0.0141	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.30709	0.017;0.291;0.291	B;B;B	0.28232	0.002;0.087;0.054	T	0.31558	-0.9939	10	0.45353	T	0.12	-14.5264	2.1867	0.03889	0.1254:0.2899:0.1233:0.4614	.	197;215;253	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	M	253;197;253;215	ENSP00000386830:I253M;ENSP00000442992:I197M;ENSP00000259050:I253M;ENSP00000387238:I215M	ENSP00000259050:I253M	I	+	3	3	MARCH7	160312806	0.222000	0.23652	0.540000	0.28089	0.804000	0.45430	-0.171000	0.09883	-0.081000	0.12662	0.650000	0.86243	ATC	-	NULL		0.398	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	protein_coding	OTTHUMT00000255040.3	C	NM_022826	-		160604560	1	no_errors	ENST00000259050	ensembl	human	known	74_37	missense	SNP	0.655	G	G	160604560	C	G	160604560	3	3	86	1	0	0	0	0	1	0	0	0	9308	816	29	4	773	4	MARCH7	2	160604560	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	85701537	160604560	82594813	8	4845											
SCN1A	6323	genome.wustl.edu	37	chr2	166854568	166854568	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttctgctggttgaAattatctatgatgacaccaa	6	8	3	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:166854568A>T	ENST00000303395.4	-	23	4455	c.4456T>A	c.(4456-4458)Ttc>Atc	p.F1486I	SCN1A_ENST00000375405.3_Missense_Mutation_p.F1475I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1458I|SCN1A_ENST00000423058.2_Missense_Mutation_p.F1486I|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1486					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)	TGCTGGTTGAAATTATCTATG	0.333																																																	0								ENSG00000144285						74	69	70					2																	166854568		2202	4295	6497	SCN1A	SO:0001583	missense	0			-	HGNC	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.4456T>A	2.37:g.166854568A>T	ENSP00000303540:p.Phe1486Ile	Somatic	0	142	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	18	70.00	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.F1486I	ENST00000303395.4	37	c.4456	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	32	5.188809	0.94923	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	H	0.98351	4.21	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.991;0.981;0.999	D	0.98614	1.0664	10	0.87932	D	0	.	14.9581	0.71135	1.0:0.0:0.0:0.0	.	1475;1458;1486	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	1486;1486;1475;1458	ENSP00000407030:F1486I;ENSP00000303540:F1486I;ENSP00000364554:F1475I;ENSP00000386312:F1458I	ENSP00000303540:F1486I	F	-	1	0	SCN1A	166562814	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.204000	0.95041	1.934000	0.56057	0.383000	0.25322	TTC	-	NULL		0.333	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	A	NM_006920	-		166854568	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166854568	A	T	166854568	3	4	86	1	0	0	0	0	1	0	0	0	13922	14	1	5	1589	5	SCN1A	2	166854568	Missense_Mutation	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	6250008	166854568	76344805	9	4846											
MYO3B	140469	genome.wustl.edu	37	chr2	171248945	171248945	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacataacttccaaggagtcTtacagaagacaattcgaagc	8	9	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:171248945T>A	ENST00000408978.4	+	16	1874	c.1731T>A	c.(1729-1731)tcT>tcA	p.S577S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.S586S|MYO3B_ENST00000409044.3_Silent_p.S577S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	577	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCAAGGAGTCTTACAGAAGAC	0.418																																																	0								ENSG00000071909						119	109	112					2																	171248945		1922	4135	6057	MYO3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1731T>A	2.37:g.171248945T>A		Somatic	0	44	0		0.513044603562384	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.S586	ENST00000408978.4	37	c.1758	CCDS42773.1	2																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	T		-		171248945	1	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	SNP	1.000	A	A	171248945	T	A	171248945	2	1	86	1	0	0	0	0	0	0	0	1	10079	1596	56	5		5	MYO3B	2	171248945	Silent	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	4394377	171248945	71950428	10	4847											
ITGAV	3685	genome.wustl.edu	37	chr2	187529902	187529902	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagaaaaccaaactcgccAggtggtatgtgaccttggaa	11	9	0	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:187529902A>C	ENST00000261023.3	+	21	2397	c.2123A>C	c.(2122-2124)cAg>cCg	p.Q708P	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q662P|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q672P	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	708					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)	CAAACTCGCCAGGTGGTATGT	0.353																																					Melanoma(58;108 1995 6081)												0								ENSG00000138448						74	75	74					2																	187529902		2203	4300	6503	ITGAV	SO:0001583	missense	0			-	HGNC		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.2123A>C	2.37:g.187529902A>C	ENSP00000261023:p.Gln708Pro	Somatic	0	74	0		0.513044603562384	112	53.72	130	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q708P	ENST00000261023.3	37	c.2123	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003951	0.54254	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46819	0.86;0.86;0.86	5.89	5.89	0.94794	Integrin alpha-2 (1);	0.276884	0.40222	N	0.001159	T	0.37320	0.0999	N	0.19112	0.55	0.32286	N	0.567009	P;P;P	0.46784	0.884;0.817;0.884	B;P;B	0.45343	0.377;0.477;0.377	T	0.54043	-0.8352	10	0.72032	D	0.01	.	9.7992	0.40753	0.7446:0.0:0.0:0.2554	.	662;672;708	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	P	708;672;662	ENSP00000261023:Q708P;ENSP00000364042:Q672P;ENSP00000404291:Q662P	ENSP00000261023:Q708P	Q	+	2	0	ITGAV	187238147	0.954000	0.32549	1.000000	0.80357	0.998000	0.95712	2.298000	0.43602	2.250000	0.74265	0.477000	0.44152	CAG	-	pfam_Integrin_alpha-2		0.353	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	protein_coding	OTTHUMT00000255882.2	A	NM_002210	-		187529902	1	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	SNP	0.990	C	C	187529902	A	C	187529902	3	2	86	1	0	0	0	0	1	0	0	0	7890	188	7	5	2256	5	ITGAV	2	187529902	Missense_Mutation	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	16280957	187529902	55669471	11	4848											
ORC2L	4999	genome.wustl.edu	37	chr2	201798656	201798656	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcagaggttaaaactttTgaactgctgtgagcttcaaa	8	7	2	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:201798656T>C	ENST00000234296.2	-	10	999	c.750A>G	c.(748-750)tcA>tcG	p.S250S		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	250					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTAAAACTTTTGAACTGCTGT	0.343																																																	0								ENSG00000115942						96	99	98					2																	201798656		2203	4298	6501	ORC2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.750A>G	2.37:g.201798656T>C		Somatic	0	62	0		0.513044603562384	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q13204|Q53TX5	Silent	SNP							pfam_ORC2	p.S250	ENST00000234296.2	37	c.750	CCDS2334.1	2																																																																																			-	NULL		0.343	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	protein_coding	OTTHUMT00000256191.2	T	NM_006190	-		201798656	-1	no_errors	ENST00000234296	ensembl	human	known	74_37	silent	SNP	0.993	C	C	201798656	T	C	201798656	2	2	86	1	0	0	0	0	0	0	0	1	11264	1799	63	5		5	ORC2L	2	201798656	Silent	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	14268754	201798656	41400717	12	4849											
SPP2	6694	genome.wustl.edu	37	chr2	234959657	234959657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcctccttaagggatgCcctcagtgcctctgtggtaa	9	13	2	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr2:234959657C>T	ENST00000168148.3	+	2	216	c.128C>T	c.(127-129)gCc>gTc	p.A43V	SPP2_ENST00000373368.1_Missense_Mutation_p.A43V|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	43					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTAAGGGATGCCCTCAGTGCC	0.493																																																	0								ENSG00000072080						135	112	120					2																	234959657		2203	4300	6503	SPP2	SO:0001583	missense	0			-	HGNC		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.128C>T	2.37:g.234959657C>T	ENSP00000168148:p.Ala43Val	Somatic	0	39	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP							pfam_Spp-24,pfam_Prot_inh_cystat	p.A43V	ENST00000168148.3	37	c.128	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370472	0.42003	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.69561	-0.41;-0.41	5.38	4.5	0.54988	.	0.142998	0.47455	N	0.000221	T	0.63745	0.2537	M	0.69823	2.125	0.30839	N	0.735835	P	0.52316	0.952	B	0.40636	0.335	T	0.71583	-0.4549	10	0.87932	D	0	-18.5772	10.4176	0.44331	0.0:0.9091:0.0:0.0909	.	43	Q13103	SPP24_HUMAN	V	43	ENSP00000362466:A43V;ENSP00000168148:A43V	ENSP00000168148:A43V	A	+	2	0	SPP2	234624396	0.978000	0.34361	0.108000	0.21378	0.544000	0.35116	2.283000	0.43470	1.261000	0.44149	0.650000	0.86243	GCC	-	pfam_Prot_inh_cystat		0.493	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	protein_coding	OTTHUMT00000131313.3	C	NM_006944	-		234959657	1	no_errors	ENST00000168148	ensembl	human	known	74_37	missense	SNP	0.383	T	T	234959657	C	T	234959657	3	4	86	1	0	0	0	0	1	0	0	0	15094	739	26	2	134	2	SPP2	2	234959657	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	33161001	234959657	8239716	13	4850											
CELSR3	1951	genome.wustl.edu	37	chr3	48700023	48700023	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggagcaggagtatgggggtCgaccgtcccccgaggccccg	17	13	0	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr3:48700023C>A	ENST00000164024.4	-	1	325	c.45G>T	c.(43-45)tcG>tcT	p.S15S	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.S15S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	15					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)		GTATGGGGGTCGACCGTCCCC	0.741																																																	0								ENSG00000008300						5	7	6					3																	48700023		1994	4057	6051	CELSR3	SO:0001819	synonymous_variant	0			-	HGNC	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.45G>T	3.37:g.48700023C>A		Somatic	0	22	0		0.513044603562384	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	O75092	Silent	SNP							pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S15	ENST00000164024.4	37	c.45	CCDS2775.1	3																																																																																			-	NULL		0.741	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	C	NM_001407	-		48700023	-1	no_errors	ENST00000544264	ensembl	human	known	74_37	silent	SNP	0.009	A	A	48700023	C	A	48700023	2	1	86	1	0	0	0	0	0	0	0	1	3225	871	31	3		3	CELSR3	3	48700023	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		48700023	149322407	14	4851											
C3orf54	7318	genome.wustl.edu	37	chr3	49841868	49841868	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcggaggtgtcaggcagCacatggcgagaggaagaact	15	8	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr3:49841868C>T	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.S104S	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGTCAGGCAGCACATGGCGAG	0.632																																																	0								ENSG00000185614						95	91	92					3																	49841868		2203	4300	6503	FAM212A	SO:0001628	intergenic_variant	0			-	HGNC	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49841868C>T		Somatic	0	36	0		0.513044603562384	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q9BRB2	Silent	SNP							NULL	p.S104	ENST00000333486.3	37	c.312	CCDS2805.1	3																																																																																			-	NULL		0.632	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM212A	protein_coding	OTTHUMT00000350503.1	C	NM_003335	-		49841868	1	no_errors	ENST00000333323	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49841868	C	T	49841868	1	4	86	0	1	0	0	0	0	0	0	0	2235	709	25	2		2	C3orf54	3	49841868	IGR	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	1141845	49841868	148180562	15	4852											
OR5AC2	81050	genome.wustl.edu	37	chr3	97806244	97806244	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagatgcttgtacttcAacctctataacccctaggat	5	11	3	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr3:97806244A>C	ENST00000358642.2	+	1	228	c.228A>C	c.(226-228)tcA>tcC	p.S76S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	76					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)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTGTACTTCAACCTCTATAA	0.428																																																	0								ENSG00000196578						232	225	227					3																	97806244		2203	4300	6503	OR5AC2	SO:0001819	synonymous_variant	0			-	HGNC	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.228A>C	3.37:g.97806244A>C		Somatic	0	60	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S76	ENST00000358642.2	37	c.228	CCDS33796.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AC2	protein_coding	OTTHUMT00000359116.1	A		-		97806244	1	no_errors	ENST00000358642	ensembl	human	known	74_37	silent	SNP	0.001	C	C	97806244	A	C	97806244	2	2	86	1	0	0	0	0	0	0	0	1	11143	117	5	5		5	OR5AC2	3	97806244	Silent	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	47964376	97806244	100216186	16	4853											
SIDT1	54847	genome.wustl.edu	37	chr3	113325932	113325932	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacatctgttactacaacttCctctgtgctcaccccttggg	7	14	3	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr3:113325932C>T	ENST00000264852.4	+	15	2175	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Silent_p.F483F	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	483					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACTACAACTTCCTCTGTGCTC	0.488																																																	0								ENSG00000072858						144	116	126					3																	113325932		2203	4300	6503	SIDT1	SO:0001819	synonymous_variant	0			-	HGNC	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1449C>T	3.37:g.113325932C>T		Somatic	0	104	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	44	22.81	Q17RR4	Silent	SNP							NULL	p.F483	ENST00000264852.4	37	c.1449	CCDS2974.1	3																																																																																			-	NULL		0.488	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	protein_coding	OTTHUMT00000317564.1	C	NM_017699	-		113325932	1	no_errors	ENST00000393830	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113325932	C	T	113325932	2	4	86	1	0	0	0	0	0	0	0	1	14310	854	30	2		2	SIDT1	3	113325932	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	15519688	113325932	84696498	17	4854											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133384	119133384	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaccagggaggttgagAtcgtctcacaagaagaggag	14	9	1	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr3:119133384A>T	ENST00000264245.4	+	12	3140	c.2608A>T	c.(2608-2610)Atc>Ttc	p.I870F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	870					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGGTTGAGATCGTCTCACA	0.507																																					Pancreas(7;176 297 5394 51128 51241)												0								ENSG00000031081						91	94	93					3																	119133384		2046	4200	6246	ARHGAP31	SO:0001583	missense	0			-	HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2608A>T	3.37:g.119133384A>T	ENSP00000264245:p.Ile870Phe	Somatic	0	71	0		0.513044603562384	33	15.38	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	31	44.64	Q9ULL6	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.I870F	ENST00000264245.4	37	c.2608	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115588	0.37339	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08896	3.04	4.66	-4.97	0.03029	.	1.287970	0.05227	N	0.509661	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43572	-0.9383	10	0.62326	D	0.03	.	2.0635	0.03597	0.4031:0.1316:0.3374:0.1279	.	870	Q2M1Z3	RHG31_HUMAN	F	870	ENSP00000264245:I870F	ENSP00000264245:I870F	I	+	1	0	ARHGAP31	120616074	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.536000	0.02208	-0.767000	0.04633	-0.366000	0.07423	ATC	-	NULL		0.507	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	A		-		119133384	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	SNP	0.000	T	T	119133384	A	T	119133384	3	4	86	1	0	0	0	0	1	0	0	0	880	333	12	5	2654	5	ARHGAP31	3	119133384	Missense_Mutation	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	5807452	119133384	78889046	18	4855											
HS3ST1	9957	genome.wustl.edu	37	chr4	11401252	11401252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgctcaggcactttgggCgacgtgaaatacgcgggggt	15	10	1	1	rs190695013		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr4:11401252C>T	ENST00000002596.5	-	2	1552	c.378G>A	c.(376-378)tcG>tcA	p.S126S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	126					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						GCACTTTGGGCGACGTGAAAT	0.607																																																	0								ENSG00000002587						65	64	65					4																	11401252		2203	4300	6503	HS3ST1	SO:0001819	synonymous_variant	0			-	HGNC	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.378G>A	4.37:g.11401252C>T		Somatic	0	68	0		0.513044603562384	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	B3KUA6|Q6PEY8	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S126	ENST00000002596.5	37	c.378	CCDS3408.1	4																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.607	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	protein_coding	OTTHUMT00000207073.3	C	NM_005114	-		11401252	-1	no_errors	ENST00000002596	ensembl	human	known	74_37	silent	SNP	0.988	T	T	11401252	C	T	11401252	2	4	86	1	0	0	0	0	0	0	0	1	7365	755	27	1		1	HS3ST1	4	11401252	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		11401252	179753024	19	4856											
ANKRD56	345079	genome.wustl.edu	37	chr4	77817206	77817206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaagcttcacaatccaCtcatgctccctggcatctag	7	15	3	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr4:77817206C>T	ENST00000334306.2	-	1	1796	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	599																	TCACAATCCACTCATGCTCCC	0.562																																																	0								ENSG00000186212						64	59	61					4																	77817206		2203	4300	6503	SOWAHB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1797G>A	4.37:g.77817206C>T		Somatic	0	43	0		0.513044603562384	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RP29	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E599	ENST00000334306.2	37	c.1797	CCDS34017.1	4																																																																																			-	NULL		0.562	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHB	protein_coding	OTTHUMT00000362762.1	C	NM_001029870	-		77817206	-1	no_errors	ENST00000334306	ensembl	human	known	74_37	silent	SNP	0.887	T	T	77817206	C	T	77817206	2	4	86	1	0	0	0	0	0	0	0	1	682	564	20	2		2	ANKRD56	4	77817206	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	66415954	77817206	113337070	20	4857											
PDCD6	10016	genome.wustl.edu	37	chr5	271858	271869	+	In_Frame_Del	DEL	CCGGCCCTGGGG	CCGGCCCTGGGG	-													ggccgcctactcttaccgccCcggccctggggccggccctg					rs529816592|rs147793210|rs201564379	byFrequency	TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	CCGGCCCTGGGG	CCGGCCCTGGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr5:271858_271869delCCGGCCCTGGGG	ENST00000264933.4	+	1	123_134	c.23_34delCCGGCCCTGGGG	c.(22-36)cccggccctggggcc>ccc	p.GPGA9del	PDCD6_ENST00000509581.1_In_Frame_Del_p.GPGA9del|CTD-2083E4.6_ENST00000512642.1_RNA|PDCD6_ENST00000505221.1_In_Frame_Del_p.GPGA9del|PDCD6_ENST00000507528.1_In_Frame_Del_p.GPGA9del	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.A12_G15delAGPG(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			TCTTACCGCCCCGGCCCTGGGGCCGGCCCTGG	0.741														513	0.102436	0.1316	0.1657	5008	,	,		10520	0.0546		0.0905	False		,,,				2504	0.0798																2	Deletion - In frame(2)	breast(2)						ENSG00000249915			265,2557		60,145,1206						2.2	1		dbSNP_126	6	779,5791		158,463,2664	no	coding	PDCD6	NM_013232.3		218,608,3870	A1A1,A1R,RR		11.8569,9.3905,11.1158				1044,8348				PDCD6	SO:0001651	inframe_deletion	0				HGNC	AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"EF-hand domain containing"	8765	protein-coding gene	gene with protein product	"apoptosis-linked gene-2"	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.23_34delCCGGCCCTGGGG	5.37:g.271858_271869delCCGGCCCTGGGG	ENSP00000264933:p.Gly9_Ala12del	Somatic					0.513044603562384	66	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RD16|E7ESR3|Q2YDC2|Q5TZS0	In_Frame_Del	DEL							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.AGPG12in_frame_del	ENST00000264933.4	37	c.23_34	CCDS3854.1	5																																																																																			-	NULL		0.741	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDCD6	protein_coding	OTTHUMT00000206609.2	CCGGCCCTGGGG	NM_013232			271869	1	no_errors	ENST00000264933	ensembl	human	known	74_37	in_frame_del	DEL	0.730:0.549:0.748:0.757:0.746:0.751:0.779:0.760:0.906:0.916:0.892:0.925	-	-	271869	CCGGCCCTGGGG	-	271858	7	5	86	1	0	1	0	1	0	0	0	0	11625	623	22	0	25	0	PDCD6	5	271858	In_Frame_Del	DEL	CCGGCCCTGGGG	TCGA-DX-A7EM-01A-11D-A36J-09		271858	180643402	21	4858											
RNASEN	29102	genome.wustl.edu	37	chr5	31449481	31449481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgaattcctggcatgatcagGattcattccaaaatttaaat	6	7	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr5:31449481G>T	ENST00000511367.2	-	21	2972	c.2728C>A	c.(2728-2730)Cct>Act	p.P910T	DROSHA_ENST00000513349.1_Missense_Mutation_p.P873T|DROSHA_ENST00000344624.3_Missense_Mutation_p.P910T|DROSHA_ENST00000442743.1_Missense_Mutation_p.P873T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	910	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCATGATCAGGATTCATTCCA	0.388																																																	0								ENSG00000113360						72	67	68					5																	31449481		1877	4109	5986	DROSHA	SO:0001583	missense	0			-	HGNC	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.2728C>A	5.37:g.31449481G>T	ENSP00000425979:p.Pro910Thr	Somatic	0	58	0		0.513044603562384	61	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.P910T	ENST00000511367.2	37	c.2728	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.121899	0.94429	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.48522	1.41;1.41;0.81;0.81	5.76	5.76	0.90799	Ribonuclease III (2);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.63428	1.95	0.80722	D	1	D;P	0.54047	0.964;0.624	P;B	0.52598	0.703;0.432	T	0.63655	-0.6588	10	0.87932	D	0	-13.4251	19.9787	0.97318	0.0:0.0:1.0:0.0	.	873;910	E7EMP9;Q9NRR4	.;RNC_HUMAN	T	910;910;873;873;835;866	ENSP00000425979:P910T;ENSP00000339845:P910T;ENSP00000409335:P873T;ENSP00000424161:P873T	ENSP00000265075:P835T	P	-	1	0	DROSHA	31485238	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.310000	0.96267	2.719000	0.93026	0.555000	0.69702	CCT	-	superfamily_RNase_III_dom,pfscan_RNase_III_dom		0.388	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	G	NM_013235	-		31449481	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31449481	G	T	31449481	3	4	86	1	0	0	0	0	1	0	0	0	13425	1174	41	3	1456	3	RNASEN	5	31449481	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	31177623	31449481	149465779	22	4859											
TBCA	6902	genome.wustl.edu	37	chr5	77072041	77072041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttaccgcttcaccacgCcggtcttgatcttgatctgt	7	15	4	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr5:77072041C>T	ENST00000380377.4	-	1	144	c.41G>A	c.(40-42)gGc>gAc	p.G14D	TBCA_ENST00000520039.1_Missense_Mutation_p.G14D|TBCA_ENST00000522370.1_Intron|TBCA_ENST00000306388.6_Missense_Mutation_p.G14D|TBCA_ENST00000518338.2_Missense_Mutation_p.G14D|TBCA_ENST00000520361.1_Missense_Mutation_p.G14D	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	14					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		CTTCACCACGCCGGTCTTGAT	0.701																																																	0								ENSG00000171530						31	28	29					5																	77072041		2192	4289	6481	TBCA	SO:0001583	missense	0			-	HGNC	AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"tubulin-specific chaperone a"			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.41G>A	5.37:g.77072041C>T	ENSP00000369736:p.Gly14Asp	Somatic	0	54	0		0.513044603562384	702	0.43	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DT30	Missense_Mutation	SNP							pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd	p.G14D	ENST00000380377.4	37	c.41	CCDS4040.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872930	0.91664	.	.	ENSG00000171530	ENST00000380377;ENST00000306388;ENST00000520361;ENST00000520039	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.78916	2.43	0.31051	N	0.715268	D;P	0.89917	1.0;0.956	D;P	0.76575	0.988;0.869	T	0.76080	-0.3090	9	0.54805	T	0.06	-2.2089	17.6639	0.88199	0.0:1.0:0.0:0.0	.	14;14	B4DT30;O75347	.;TBCA_HUMAN	D	14	.	ENSP00000306362:G14D	G	-	2	0	TBCA	77107797	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.472000	0.60189	2.319000	0.78375	0.555000	0.69702	GGC	-	pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd		0.701	TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCA	protein_coding	OTTHUMT00000220021.3	C	NM_004607	-		77072041	-1	no_errors	ENST00000380377	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77072041	C	T	77072041	3	4	86	1	0	0	0	0	1	0	0	0	15636	739	26	2	301	2	TBCA	5	77072041	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	45622560	77072041	103843219	23	4860											
TTC1	7265	genome.wustl.edu	37	chr5	159492027	159492027	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggattcctctaccggCtcgtactccatcaatttcgt	6	13	2	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr5:159492027C>G	ENST00000231238.5	+	8	944	c.834C>G	c.(832-834)ggC>ggG	p.G278G	TTC1_ENST00000522793.1_Silent_p.G278G|TTC1_ENST00000520274.1_3'UTR	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	278					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CCTCTACCGGCTCGTACTCCA	0.383																																																	0								ENSG00000113312						62	64	63					5																	159492027		2203	4300	6503	TTC1	SO:0001819	synonymous_variant	0			-	HGNC	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.834C>G	5.37:g.159492027C>G		Somatic	0	51	0		0.513044603562384	62	63.53	108	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	9	65.38	B2RCT2|D3DQJ8|Q9BVT3	Silent	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G278	ENST00000231238.5	37	c.834	CCDS4348.1	5																																																																																			-	NULL		0.383	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC1	protein_coding	OTTHUMT00000252675.3	C	NM_003314	-		159492027	1	no_errors	ENST00000231238	ensembl	human	known	74_37	silent	SNP	1.000	G	G	159492027	C	G	159492027	2	3	86	1	0	0	0	0	0	0	0	1	16685	784	28	4		4	TTC1	5	159492027	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	82419986	159492027	21423233	24	4861											
THOC3	84321	genome.wustl.edu	37	chr5	175395009	175395009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccccgaggctaggcgaCgcccgtcgcaactccaggcc	13	17	0	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr5:175395009C>T	ENST00000265097.4	-	1	293	c.203G>A	c.(202-204)cGt>cAt	p.R68H	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000513482.1_Missense_Mutation_p.R68H|THOC3_ENST00000510300.1_5'Flank	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	68					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GGCTAGGCGACGCCCGTCGCA	0.672																																																	0								ENSG00000051596						11	12	12					5																	175395009		1939	3876	5815	THOC3	SO:0001583	missense	0			-	HGNC	BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"WD repeat domain containing", "THO complex subunits"	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.203G>A	5.37:g.175395009C>T	ENSP00000265097:p.Arg68His	Somatic	0	64	0		0.513044603562384	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q6NZ53	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_TIF_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R68H	ENST00000265097.4	37	c.203	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183255	0.78677	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.60171	0.21;0.21	3.97	3.97	0.46021	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.207319	0.36778	N	0.002415	T	0.67135	0.2861	L	0.53249	1.67	0.58432	D	0.999997	P;P	0.51933	0.949;0.868	P;P	0.57244	0.816;0.475	T	0.72093	-0.4394	10	0.72032	D	0.01	-4.2286	15.2133	0.73244	0.0:1.0:0.0:0.0	.	68;68	Q6NZ53;Q96J01	.;THOC3_HUMAN	H	68	ENSP00000265097:R68H;ENSP00000422243:R68H	ENSP00000265097:R68H	R	-	2	0	THOC3	175327615	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.246000	0.58740	2.027000	0.59764	0.511000	0.50034	CGT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.672	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	protein_coding	OTTHUMT00000253148.1	C		-		175395009	-1	no_errors	ENST00000265097	ensembl	human	known	74_37	missense	SNP	1.000	T	T	175395009	C	T	175395009	3	4	86	1	0	0	0	0	1	0	0	0	15873	536	19	1	876	1	THOC3	5	175395009	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	15902982	175395009	5520251	25	4862											
COL23A1	91522	genome.wustl.edu	37	chr5	177673297	177673297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaataaggcccggtggGccaactggcccctggataga	13	13	0	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr5:177673297G>A	ENST00000390654.3	-	24	1728	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	457	Collagen-like 4.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGCCCGGTGGGCCAACTGGCC	0.552																																																	0								ENSG00000050767						33	39	37					5																	177673297		1856	4055	5911	COL23A1	SO:0001819	synonymous_variant	0			-	HGNC	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1371C>T	5.37:g.177673297G>A		Somatic	0	55	0		0.513044603562384	22	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q8IVR4|Q9NT93	Silent	SNP							pfam_Collagen	p.G457	ENST00000390654.3	37	c.1371	CCDS4436.1	5																																																																																			-	pfam_Collagen		0.552	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	protein_coding	OTTHUMT00000253475.1	G	NM_173465	-		177673297	-1	no_errors	ENST00000390654	ensembl	human	known	74_37	silent	SNP	0.998	A	A	177673297	G	A	177673297	2	1	86	1	0	0	0	0	0	0	0	1	3684	1190	42	2		2	COL23A1	5	177673297	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	2278288	177673297	3241963	26	4863											
PRIM2	5558	genome.wustl.edu	37	chr6	57498984	57498984	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagattttggatttagtaaaGgggacacattaccaggtagc	11	5	0	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr6:57498984G>T	ENST00000389488.2	+	0	1335				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATTTAGTAAAGGGGACACATT	0.299																																																	0								ENSG00000146143						88	80	83					6																	57498984		1839	4083	5922	PRIM2	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1332G>T	6.37:g.57498984G>T		Somatic	0	165	0		0.513044603562384	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	106	14.52	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP							-	NULL	ENST00000389488.2	37	NULL		6																																																																																			-	-		0.299	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	protein_coding	OTTHUMT00000043468.3	G	NM_000947	-		57498984	1	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	SNP	0.983	T	T	57498984	G	T	57498984	1	4	86	0	1	0	0	0	0	0	0	0	12496	991	35	3		3	PRIM2	6	57498984	3'UTR	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		57498984	113616083	27	4864											
HTR1B	3351	genome.wustl.edu	37	chr6	78172797	78172797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggccggtgacagtgtaCatggtgctgatgggcatcac	15	10	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr6:78172797C>T	ENST00000369947.2	-	1	693	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	108					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGACAGTGTACATGGTGCTGA	0.607																																																	0								ENSG00000135312						118	97	104					6																	78172797		2203	4300	6503	HTR1B	SO:0001583	missense	0			-	HGNC	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.324G>A	6.37:g.78172797C>T	ENSP00000358963:p.Met108Ile	Somatic	0	57	0		0.513044603562384	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q4VAY7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam	p.M108I	ENST00000369947.2	37	c.324	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357840	0.24598	.	.	ENSG00000135312	ENST00000369947	T	0.71222	-0.55	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.364079	0.29822	N	0.011103	T	0.20210	0.0486	N	0.00885	-1.115	0.42311	D	0.992217	B	0.13594	0.008	B	0.17979	0.02	T	0.29549	-1.0008	9	.	.	.	.	11.0963	0.48145	0.0:0.9162:0.0:0.0838	.	108	P28222	5HT1B_HUMAN	I	108	ENSP00000358963:M108I	.	M	-	3	0	HTR1B	78229516	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.120000	0.31271	2.640000	0.89533	0.561000	0.74099	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam		0.607	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	protein_coding	OTTHUMT00000041292.1	C	NM_000863	-		78172797	-1	no_errors	ENST00000369947	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78172797	C	T	78172797	3	4	86	1	0	0	0	0	1	0	0	0	7439	478	17	2	852	2	HTR1B	6	78172797	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	20673813	78172797	92942270	28	4865											
SYTL3	94120	genome.wustl.edu	37	chr6	159178331	159178331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccggagagtgtttcttgGagaagtgatcattcctctgg	14	8	3	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr6:159178331G>A	ENST00000297239.9	+	13	1420	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	SYTL3_ENST00000360448.3_Missense_Mutation_p.G341E|SYTL3_ENST00000367081.3_Missense_Mutation_p.G135E			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	409	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GTGTTTCTTGGAGAAGTGATC	0.602																																																	0								ENSG00000164674						80	68	72					6																	159178331		2203	4300	6503	SYTL3	SO:0001583	missense	0			-	HGNC	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1226G>A	6.37:g.159178331G>A	ENSP00000297239:p.Gly409Glu	Somatic	0	80	0		0.513044603562384	8	20	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.G409E	ENST00000297239.9	37	c.1226	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905204	0.92035	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.70516	-0.49;-0.49;-0.49	5.07	5.07	0.68467	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058667	0.64402	D	0.000002	D	0.90287	0.6962	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.993;0.999	D	0.94345	0.7574	10	0.87932	D	0	-5.9275	18.4301	0.90622	0.0:0.0:1.0:0.0	.	135;409;341	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	E	341;409;409;135	ENSP00000353631:G341E;ENSP00000297239:G409E;ENSP00000356048:G135E	ENSP00000297239:G409E	G	+	2	0	SYTL3	159098319	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.712000	0.91403	2.356000	0.79943	0.491000	0.48974	GGA	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.602	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	protein_coding	OTTHUMT00000042876.1	G		-		159178331	1	no_errors	ENST00000297239	ensembl	human	known	74_37	missense	SNP	1.000	A	A	159178331	G	A	159178331	3	1	86	1	0	0	0	0	1	0	0	0	15491	1174	41	2	1056	2	SYTL3	6	159178331	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	81005534	159178331	11936736	29	4866											
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31124408	31124408	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttggctacagcacatccctCgtcaccctcaccactgccat	6	18	2	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr7:31124408C>G	ENST00000304166.4	+	8	784	c.495C>G	c.(493-495)ctC>ctG	p.L165L	ADCYAP1R1_ENST00000409363.1_Silent_p.L144L|ADCYAP1R1_ENST00000409489.1_Silent_p.L165L|ADCYAP1R1_ENST00000396211.2_Silent_p.L165L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	165					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCACATCCCTCGTCACCCTCA	0.557																																					Ovarian(44;225 1186 2158 11092)												0								ENSG00000078549						296	218	245					7																	31124408		2203	4300	6503	ADCYAP1R1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.495C>G	7.37:g.31124408C>G		Somatic	0	76	0		0.513044603562384	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.L165	ENST00000304166.4	37	c.495	CCDS5433.1	7																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	protein_coding	OTTHUMT00000215041.3	C	NM_001118	-		31124408	1	no_errors	ENST00000304166	ensembl	human	known	74_37	silent	SNP	0.304	G	G	31124408	C	G	31124408	2	3	86	1	0	0	0	0	0	0	0	1	303	871	31	4		4	ADCYAP1R1	7	31124408	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		31124408	128014255	30	4867											
NUDCD3	23386	genome.wustl.edu	37	chr7	44467221	44467221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccctgacctccaggtcAgtatagtcctgtgaccaggt	11	13	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr7:44467221A>G	ENST00000355451.7	-	3	870	c.591T>C	c.(589-591)acT>acC	p.T197T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	197	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CCTCCAGGTCAGTATAGTCCT	0.522																																																	0								ENSG00000015676						134	123	127					7																	44467221		2203	4300	6503	NUDCD3	SO:0001819	synonymous_variant	0			-	HGNC	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.591T>C	7.37:g.44467221A>G		Somatic	0	66	0		0.513044603562384	163	0.61	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.09	Q9BTI3|Q9H7W9|Q9UPT4	Silent	SNP							pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.T197	ENST00000355451.7	37	c.591	CCDS5490.2	7																																																																																			-	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom		0.522	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	protein_coding	OTTHUMT00000251248.3	A	NM_015332	-		44467221	-1	no_errors	ENST00000355451	ensembl	human	known	74_37	silent	SNP	0.022	G	G	44467221	A	G	44467221	2	3	86	1	0	0	0	0	0	0	0	1	10726	175	7	5		5	NUDCD3	7	44467221	Silent	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	13342813	44467221	114671442	31	4868											
RBM28	55131	genome.wustl.edu	37	chr7	127965931	127965931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttcttgagtcatgaactgGgcaaatgcacaacctgcaca	9	11	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr7:127965931G>T	ENST00000223073.2	-	11	1257	c.1143C>A	c.(1141-1143)gcC>gcA	p.A381A	RBM28_ENST00000415472.2_Silent_p.A240A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	381	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCATGAACTGGGCAAATGCAC	0.448																																																	0								ENSG00000106344						71	64	66					7																	127965931		2203	4300	6503	RBM28	SO:0001819	synonymous_variant	0			-	HGNC	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1143C>A	7.37:g.127965931G>T		Somatic	0	19	0		0.513044603562384	46	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A381	ENST00000223073.2	37	c.1143	CCDS5801.1	7																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.448	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	protein_coding	OTTHUMT00000349442.2	G	NM_018077	-		127965931	-1	no_errors	ENST00000223073	ensembl	human	known	74_37	silent	SNP	0.895	T	T	127965931	G	T	127965931	2	4	86	1	0	0	0	0	0	0	0	1	13136	1219	43	3		3	RBM28	7	127965931	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	83498710	127965931	31172732	32	4869											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1844543	1844543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacagtgaatatgtgaaCaatttcagcacagccgtggc	10	9	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr8:1844543C>T	ENST00000398564.1	+	14	1560	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	ARHGEF10_ENST00000262112.6_Silent_p.N520N|ARHGEF10_ENST00000518288.1_Silent_p.N520N|ARHGEF10_ENST00000349830.3_Silent_p.N495N|ARHGEF10_ENST00000520359.1_Silent_p.N457N|ARHGEF10_ENST00000398560.1_Silent_p.N481N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	520	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AATATGTGAACAATTTCAGCA	0.408																																																	0								ENSG00000104728						134	130	132					8																	1844543		2203	4300	6503	ARHGEF10	SO:0001819	synonymous_variant	0			-	HGNC	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1560C>T	8.37:g.1844543C>T		Somatic	0	67	0		0.513044603562384	95	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.N520	ENST00000398564.1	37	c.1560		8																																																																																			-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.408	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	protein_coding		C		-		1844543	1	no_errors	ENST00000398564	ensembl	human	known	74_37	silent	SNP	0.999	T	T	1844543	C	T	1844543	2	4	86	1	0	0	0	0	0	0	0	1	894	477	17	2		2	ARHGEF10	8	1844543	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		1844543	144519479	33	4870											
CSMD1	64478	genome.wustl.edu	37	chr8	3072082	3072082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccccaatcacacaggtgaTggatgaggggtcaagaatct	12	9	3	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr8:3072082T>A	ENST00000520002.1	-	31	5362	c.4807A>T	c.(4807-4809)Atc>Ttc	p.I1603F	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.I1602F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I1603F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I1603F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I1603F|CSMD1_ENST00000542608.1_Missense_Mutation_p.I1602F|CSMD1_ENST00000539096.1_Missense_Mutation_p.I1602F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1603	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		ACACAGGTGATGGATGAGGGG	0.483																																																	0								ENSG00000183117						79	79	79					8																	3072082		2015	4173	6188	CSMD1	SO:0001583	missense	0			-	HGNC			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.4807A>T	8.37:g.3072082T>A	ENSP00000430733:p.Ile1603Phe	Somatic	0	54	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I1603F	ENST00000520002.1	37	c.4807		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.95|14.95	2.689363|2.689363	0.48097|0.48097	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.68765	.|-0.35;-0.35;-0.35;-0.35;-0.35	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.073810	.|0.51477	.|D	.|0.000093	T|T	0.81772|0.81772	0.4893|0.4893	M|M	0.79123|0.79123	2.44|2.44	0.58432|0.58432	D|D	0.999995|0.999995	.|D;P;D	.|0.67145	.|0.996;0.889;0.961	.|D;P;P	.|0.77004	.|0.989;0.781;0.838	D|D	0.83490|0.83490	0.0069|0.0069	5|10	.|0.54805	.|T	.|0.06	.|.	15.6593|15.6593	0.77169|0.77169	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1603;1603;1603	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	L|F	1082|1603;1603;1465;1602;1602;1602	.|ENSP00000383047:I1603F;ENSP00000430733:I1603F;ENSP00000441462:I1602F;ENSP00000446243:I1602F;ENSP00000441675:I1602F	.|ENSP00000320445:I1465F	H|I	-|-	2|1	0|0	CSMD1|CSMD1	3059489|3059489	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.098000|0.098000	0.18820|0.18820	3.788000|3.788000	0.55446|0.55446	2.095000|2.095000	0.63458|0.63458	0.482000|0.482000	0.46254|0.46254	CAT|ATC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	T	NM_033225	-		3072082	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3072082	T	A	3072082	3	1	86	1	0	0	0	0	1	0	0	0	3946	1464	51	5	6054	5	CSMD1	8	3072082	Missense_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	1227539	3072082	143291940	34	4871											
LPL	4023	genome.wustl.edu	37	chr8	19811678	19811678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtatgcagaagccccgagtCgtctttctcctgatgatgca	10	11	2	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr8:19811678C>T	ENST00000311322.8	+	5	1059	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	197					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AGCCCCGAGTCGTCTTTCTCC	0.463																																																	0								ENSG00000175445						133	128	130					8																	19811678		2203	4300	6503	LPL	SO:0001583	missense	0			-	HGNC		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.589C>T	8.37:g.19811678C>T	ENSP00000309757:p.Arg197Cys	Somatic	0	87	0		0.513044603562384	156	25	52	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP							pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase	p.R197C	ENST00000311322.8	37	c.589	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639105	0.67244	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.93366	-3.21	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.226102	0.47852	D	0.000212	D	0.97476	0.9174	H	0.94306	3.52	0.31507	N	0.664025	D	0.89917	1.0	D	0.76575	0.988	D	0.98183	1.0458	8	.	.	.	-23.5122	13.211	0.59825	0.1589:0.8411:0.0:0.0	.	197	P06858	LIPL_HUMAN	C	197;121;183	ENSP00000309757:R197C	.	R	+	1	0	LPL	19855958	0.992000	0.36948	0.997000	0.53966	0.393000	0.30537	2.861000	0.48380	2.941000	0.99782	0.655000	0.94253	CGT	-	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase		0.463	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	protein_coding	OTTHUMT00000089113.3	C		-		19811678	1	no_errors	ENST00000311322	ensembl	human	known	74_37	missense	SNP	0.989	T	T	19811678	C	T	19811678	3	4	86	1	0	0	0	0	1	0	0	0	8923	884	31	1	607	1	LPL	8	19811678	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	16739596	19811678	126552344	35	4872											
ECM2	1842	genome.wustl.edu	37	chr9	95284902	95284902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactccaggaaaacttgaaaAggattcaaacttttcctcca	5	10	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr9:95284902A>G	ENST00000344604.5	-	2	396	c.247T>C	c.(247-249)Ttt>Ctt	p.F83L	ECM2_ENST00000375540.1_Missense_Mutation_p.F83L|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.F83L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	83					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						AAACTTGAAAAGGATTCAAAC	0.383																																																	0								ENSG00000106823						100	109	106					9																	95284902		2203	4300	6503	ECM2	SO:0001583	missense	0			-	HGNC	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.247T>C	9.37:g.95284902A>G	ENSP00000344758:p.Phe83Leu	Somatic	0	73	0		0.513044603562384	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.F83L	ENST00000344604.5	37	c.247	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	A	3.290	-0.145140	0.06627	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.56	1.09	0.20402	.	0.601209	0.16657	N	0.204964	T	0.11707	0.0285	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.26950	-1.0088	10	0.13470	T	0.59	.	3.3937	0.07298	0.3691:0.0:0.4253:0.2056	.	83;83;83;83	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	L	83	ENSP00000393971:F83L;ENSP00000344758:F83L;ENSP00000364690:F83L;ENSP00000378905:F83L	ENSP00000344758:F83L	F	-	1	0	ECM2	94324723	0.039000	0.19947	0.017000	0.16124	0.500000	0.33767	0.628000	0.24522	0.392000	0.25172	0.528000	0.53228	TTT	-	NULL		0.383	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	protein_coding	OTTHUMT00000053091.1	A	NM_001393	-		95284902	-1	no_errors	ENST00000344604	ensembl	human	known	74_37	missense	SNP	0.006	G	G	95284902	A	G	95284902	3	3	86	1	0	0	0	0	1	0	0	0	4900	72	3	5	1888	5	ECM2	9	95284902	Missense_Mutation	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09		95284902	45928529	36	4873											
ACTL7B	10880	genome.wustl.edu	37	chr9	111617550	111617550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccagcgtagtcggcgcGgctggtcaggcccggcagca	15	16	1	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr9:111617550G>A	ENST00000374667.3	-	1	1689	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	221						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R221S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGTCGGCGCGGCTGGTCAGG	0.662																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000148156						50	40	43					9																	111617550		2203	4300	6503	ACTL7B	SO:0001583	missense	0			-	HGNC	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.661C>T	9.37:g.111617550G>A	ENSP00000363799:p.Arg221Cys	Somatic	0	25	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	B2R9Q2|Q5JSV1	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R221C	ENST00000374667.3	37	c.661	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867799	0.51588	.	.	ENSG00000148156	ENST00000374667	D	0.95137	-3.62	4.63	3.74	0.42951	.	0.389949	0.18921	N	0.127476	D	0.95487	0.8534	H	0.95043	3.615	0.50632	D	0.999887	B	0.23540	0.087	B	0.22386	0.039	D	0.94507	0.7715	10	0.87932	D	0	.	10.4648	0.44600	0.0948:0.0:0.9052:0.0	.	221	Q9Y614	ACL7B_HUMAN	C	221	ENSP00000363799:R221C	ENSP00000363799:R221C	R	-	1	0	ACTL7B	110657371	0.920000	0.31207	0.018000	0.16275	0.223000	0.24884	1.915000	0.39976	1.177000	0.42855	0.655000	0.94253	CGC	-	pfam_Actin-related,smart_Actin-related		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	protein_coding	OTTHUMT00000053571.1	G	NM_006686	-		111617550	-1	no_errors	ENST00000374667	ensembl	human	known	74_37	missense	SNP	0.808	A	A	111617550	G	A	111617550	3	1	86	1	0	0	0	0	1	0	0	0	201	1116	39	1	590	1	ACTL7B	9	111617550	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	16332648	111617550	29595881	37	4874											
MAPKAP1	79109	genome.wustl.edu	37	chr9	128434681	128434681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catagccctgagtctcaccaTtgcttccctgaatttctgac	6	14	2	3	rs559227539		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr9:128434681T>G	ENST00000373498.1	-	1	241	c.173A>C	c.(172-174)aAt>aCt	p.N58T	MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.N58T|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.N58T|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.N58T|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.N58T			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	58	Interaction with MAP3K2.|Interaction with NBN.				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)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AGTCTCACCATTGCTTCCCTG	0.438																																																	0								ENSG00000119487						150	109	123					9																	128434681		2203	4300	6503	MAPKAP1	SO:0001583	missense	0			-	HGNC	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.173A>C	9.37:g.128434681T>G	ENSP00000362597:p.Asn58Thr	Somatic	0	50	0		0.513044603562384	115	27.22	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP							pfam_SIN1	p.N58T	ENST00000373498.1	37	c.173	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	T	8.392	0.839938	0.16891	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000373496;ENST00000433483	.	.	.	5.71	-0.554	0.11811	.	0.405452	0.32357	N	0.006216	T	0.36963	0.0986	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.24675	0.082;0.011;0.011;0.109	B;B;B;B	0.30943	0.023;0.014;0.013;0.122	T	0.06127	-1.0844	9	0.13470	T	0.59	-3.1463	8.6113	0.33804	0.0:0.4826:0.1154:0.402	.	58;58;58;58	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	T	58;58;58;58;13;58;58;58	.	ENSP00000265960:N58T	N	-	2	0	MAPKAP1	127474502	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	0.844000	0.27654	-0.126000	0.11682	0.533000	0.62120	AAT	-	pfam_SIN1		0.438	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	protein_coding	OTTHUMT00000054092.1	T		-		128434681	-1	no_errors	ENST00000265960	ensembl	human	known	74_37	missense	SNP	0.988	G	G	128434681	T	G	128434681	3	3	86	1	0	0	0	0	1	0	0	0	9290	1493	52	5	1457	5	MAPKAP1	9	128434681	Missense_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	16817131	128434681	12778750	38	4875											
FNBP1	23048	genome.wustl.edu	37	chr9	132687393	132687393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaattcaatgtctccaggaGgctcaaaccctgatttataa	6	10	3	1	rs199820551		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr9:132687393G>T	ENST00000446176.2	-	9	1019	c.833C>A	c.(832-834)cCt>cAt	p.P278H	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.P278H|FNBP1_ENST00000420781.1_Missense_Mutation_p.P278H	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	278	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTCTCCAGGAGGCTCAAACCC	0.403			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0								ENSG00000187239						133	125	127					9																	132687393		1871	4106	5977	FNBP1	SO:0001583	missense	0			-	HGNC	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.833C>A	9.37:g.132687393G>T	ENSP00000413625:p.Pro278His	Somatic	0	81	0		0.513044603562384	190	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP							pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.P278H	ENST00000446176.2	37	c.833	CCDS48040.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.316985|4.316985	0.81469|0.81469	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	.|T;T;T	.|0.19938	.|2.11;2.11;2.11	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.104534	.|0.64402	.|D	.|0.000002	T|T	0.51295|0.51295	0.1666|0.1666	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|P;D;P;D;D;P;D	.|0.89917	.|0.804;1.0;0.895;1.0;1.0;0.876;1.0	.|B;D;B;D;D;B;D	.|0.87578	.|0.181;0.998;0.369;0.992;0.998;0.313;0.992	T|T	0.55289|0.55289	-0.8164|-0.8164	5|10	.|0.87932	.|D	.|0	-17.0034|-17.0034	18.4048|18.4048	0.90532|0.90532	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|278;278;278;278;239;278;278	.|B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;FNBP1_HUMAN	I|H	240|278	.|ENSP00000413625:P278H;ENSP00000407548:P278H;ENSP00000347907:P278H	.|ENSP00000347907:P278H	L|P	-|-	1|2	0|0	FNBP1|FNBP1	131727214|131727214	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.986000|0.986000	0.74619|0.74619	9.278000|9.278000	0.95766|0.95766	2.655000|2.655000	0.90218|0.90218	0.462000|0.462000	0.41574|0.41574	CTC|CCT	-	NULL		0.403	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	protein_coding	OTTHUMT00000054630.2	G		-		132687393	-1	no_errors	ENST00000446176	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132687393	G	T	132687393	3	4	86	1	0	0	0	0	1	0	0	0	5967	1000	35	3	1056	3	FNBP1	9	132687393	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	4252712	132687393	8526038	39	4876											
SEC16A	9919	genome.wustl.edu	37	chr9	139336249	139336249	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctggccaatcctccctagCcttgagctcccggaggtggc	11	16	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr9:139336249C>G	ENST00000371706.3	-	28	6396	c.6363G>C	c.(6361-6363)agG>agC	p.R2121S	SEC16A_ENST00000313084.5_Missense_Mutation_p.R372S|INPP5E_ENST00000371712.3_5'Flank|SEC16A_ENST00000431893.2_Missense_Mutation_p.R2141S|SEC16A_ENST00000313050.7_Missense_Mutation_p.R2344S|SEC16A_ENST00000467838.1_5'UTR|SEC16A_ENST00000290037.6_Missense_Mutation_p.R2146S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2166	Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCTCCCTAGCCTTGAGCTCC	0.612																																																	0								ENSG00000148396						62	73	70					9																	139336249		2106	4234	6340	SEC16A	SO:0001583	missense	0			-	HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6363G>C	9.37:g.139336249C>G	ENSP00000360771:p.Arg2121Ser	Somatic	0	32	0		0.513044603562384	32	59.49	47	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP							NULL	p.R2344S	ENST00000371706.3	37	c.7032		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.697978|2.697978	0.48307|0.48307	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000433860|ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.|T;T;T;T;T;T	.|0.71579	.|0.32;-0.58;0.79;1.29;1.1;1.1	5.26|5.26	2.38|2.38	0.29361|0.29361	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80053|0.80053	0.4553|0.4553	M|M	0.66939|0.66939	2.045|2.045	0.33139|0.33139	D|D	0.544082|0.544082	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;1.0;0.998;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D;D;D	.|0.87578	.|0.997;0.994;0.993;0.998;0.991;0.994;0.996;0.996;0.997	D|D	0.83729|0.83729	0.0197|0.0197	5|10	.|0.87932	.|D	.|0	-29.3916|-29.3916	10.1169|10.1169	0.42596|0.42596	0.0:0.7107:0.0:0.2893|0.0:0.7107:0.0:0.2893	.|.	.|184;2321;2188;2141;1714;2166;721;372;187	.|B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;C9JVR0;Q8N9G1;F6VLX6	.|.;.;.;.;.;SC16A_HUMAN;.;.;.	P|S	493|2344;738;1046;2121;372;187;2146;2141;1714;721	.|ENSP00000325827:R2344S;ENSP00000277537:R738S;ENSP00000403525:R1046S;ENSP00000360771:R2121S;ENSP00000290037:R2146S;ENSP00000387583:R2141S	.|ENSP00000277537:R738S	A|R	-|-	1|3	0|2	SEC16A|SEC16A	138456070|138456070	0.220000|0.220000	0.23631|0.23631	0.011000|0.011000	0.14972|0.14972	0.010000|0.010000	0.07245|0.07245	0.634000|0.634000	0.24614|0.24614	0.626000|0.626000	0.30322|0.30322	-0.274000|-0.274000	0.10170|0.10170	GCT|AGG	-	NULL		0.612	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055077.1	C	XM_088459	-		139336249	-1	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	SNP	0.046	G	G	139336249	C	G	139336249	3	3	86	1	0	0	0	0	1	0	0	0	13994	738	26	4	45	4	SEC16A	9	139336249	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	6648856	139336249	1877182	40	4877											
ZMYND19	116225	genome.wustl.edu	37	chr9	140481430	140481430	+	Frame_Shift_Del	DEL	G	G	-													aagacccacctctgcttgctGgaggtctcttcagccttggg							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr9:140481430delG	ENST00000298585.2	-	4	574	c.348delC	c.(346-348)tccfs	p.S117fs	ZMYND19_ENST00000471957.1_5'Flank	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	117						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TCTGCTTGCTGGAGGTCTCTT	0.627																																																	0								ENSG00000165724						48	45	46					9																	140481430		2203	4300	6503	ZMYND19	SO:0001589	frameshift_variant	0				HGNC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.348delC	9.37:g.140481430delG	ENSP00000298585:p.Ser117fs	Somatic	0	96	0		0.513044603562384	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q5T366	Frame_Shift_Del	DEL							pfam_Znf_MYND,pfscan_Znf_MYND	p.S117fs	ENST00000298585.2	37	c.348	CCDS7048.1	9																																																																																			-	NULL		0.627	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	protein_coding	OTTHUMT00000055356.1	G	NM_138462			140481430	-1	no_errors	ENST00000298585	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	140481430	G	-	140481430	7	5	86	1	0	1	0	1	0	0	0	0	17717	1335	47	0	347	0	ZMYND19	9	140481430	Frame_Shift_Del	DEL	G	TCGA-DX-A7EM-01A-11D-A36J-09	1145181	140481430	732001	41	4878											
CUBN	8029	genome.wustl.edu	37	chr10	16942707	16942707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtcacgaccagctgattgGaacctgactgtattgtcctg	10	10	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr10:16942707G>T	ENST00000377833.4	-	53	8392	c.8327C>A	c.(8326-8328)tCc>tAc	p.S2776Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2776	CUB 20. {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)			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)	CAGCTGATTGGAACCTGACTG	0.448																																																	0								ENSG00000107611						197	165	175					10																	16942707		2203	4300	6503	CUBN	SO:0001583	missense	0			-	HGNC	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.8327C>A	10.37:g.16942707G>T	ENSP00000367064:p.Ser2776Tyr	Somatic	0	78	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.S2776Y	ENST00000377833.4	37	c.8327	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316170	0.60524	.	.	ENSG00000107611	ENST00000377833	T	0.24723	1.84	5.59	5.59	0.84812	CUB (5);	0.000000	0.44097	D	0.000500	T	0.57873	0.2083	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61337	-0.7083	10	0.72032	D	0.01	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	2776	O60494	CUBN_HUMAN	Y	2776	ENSP00000367064:S2776Y	ENSP00000367064:S2776Y	S	-	2	0	CUBN	16982713	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	9.150000	0.94667	2.783000	0.95769	0.655000	0.94253	TCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	G	NM_001081	-		16942707	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16942707	G	T	16942707	3	4	86	1	0	0	0	0	1	0	0	0	4053	1174	41	3	2604	3	CUBN	10	16942707	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		16942707	118592040	42	4879											
PLXDC2	84898	genome.wustl.edu	37	chr10	20568746	20568746	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttattgtatcagagcagtgcTaaaatttctaggacagaaca	8	6	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr10:20568746T>A	ENST00000377252.4	+	14	2429	c.1588T>A	c.(1588-1590)Taa>Aaa	p.*530K	PLXDC2_ENST00000377242.3_Nonstop_Mutation_p.*481K|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	0					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGAGCAGTGCTAAAATTTCTA	0.403																																																	0								ENSG00000120594						85	84	84					10																	20568746		2203	4300	6503	PLXDC2	SO:0001578	stop_lost	0			-	HGNC	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1588T>A	10.37:g.20568746T>A	ENSP00000366460:p.*530Lysext*3	Somatic	0	59	0		0.513044603562384	54	1.82	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q96E59|Q96PD9|Q96SU9	Nonstop_Mutation	SNP							pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	p.*530K	ENST00000377252.4	37	c.1588	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850395	0.71719	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	.	.	.	K	530;481;393;516	.	.	X	+	1	0	PLXDC2	20608752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.333000	0.79214	2.260000	0.74910	0.528000	0.53228	TAA	-	NULL		0.403	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	protein_coding	OTTHUMT00000047101.2	T	NM_032812	-		20568746	1	no_errors	ENST00000377252	ensembl	human	known	74_37	nonstop	SNP	1.000	A	A	20568746	T	A	20568746	4	1	86	1	0	0	0	0	0	0	0	0	12120	1535	53	5	1642	5	PLXDC2	10	20568746	Nonstop_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	3626039	20568746	114966001	43	4880											
ODF3	113746	genome.wustl.edu	37	chr11	198465	198465	+	Splice_Site	DEL	C	C	-													ctccacgtccaccctgcaggCcccgctgcgtacatgctgcc							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:198465delC	ENST00000325113.4	+	5	731	c.414delC	c.(412-414)ggc>gg	p.G138fs	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Splice_Site_p.G138fs	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACCCTGCAGGCCCCGCTGCGT	0.672																																																	0								ENSG00000177947						47	47	47					11																	198465		2203	4300	6503	ODF3	SO:0001630	splice_region_variant	0				HGNC	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.413-1C>-	11.37:g.198465delC		Somatic	0	63	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B7ZLT0|Q69YX0	Frame_Shift_Del	DEL							pfam_SHIPPO-rpt	p.A140fs	ENST00000325113.4	37	c.414	CCDS7688.1	11																																																																																			-	NULL		0.672	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3	protein_coding	OTTHUMT00000239287.1	C			Frame_Shift_Del	198465	1	no_errors	ENST00000325113	ensembl	human	known	74_37	frame_shift_del	DEL	0.960	-	-	198465	C	-	198465	8	5	86	1	0	1	0	1	0	0	1	0	10831	753	26	0	428	0	ODF3	11	198465	Splice_Site	DEL	C	TCGA-DX-A7EM-01A-11D-A36J-09		198465	134808051	44	4881											
RAG2	5897	genome.wustl.edu	37	chr11	36615530	36615530	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtagcaggaatccttAgagaaaattgtaggcttcag	14	5	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:36615530A>T	ENST00000311485.3	-	2	350	c.189T>A	c.(187-189)tcT>tcA	p.S63S	C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	63					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGGAATCCTTAGAGAAAATTG	0.468									Familial Hemophagocytic Lymphohistiocytosis																																								0								ENSG00000175097						132	137	135					11																	36615530		2202	4298	6500	RAG2	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.189T>A	11.37:g.36615530A>T		Somatic	0	96	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	23	53.06	A8K9E9|Q8TBL4	Silent	SNP							pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.S63	ENST00000311485.3	37	c.189	CCDS7903.1	11																																																																																			-	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller		0.468	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	protein_coding	OTTHUMT00000389536.1	A	NM_000536	-		36615530	-1	no_errors	ENST00000311485	ensembl	human	known	74_37	silent	SNP	0.411	T	T	36615530	A	T	36615530	2	4	86	1	0	0	0	0	0	0	0	1	13013	407	15	5		5	RAG2	11	36615530	Silent	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	36417065	36615530	98390986	45	4882											
PPP2R5B	5526	genome.wustl.edu	37	chr11	64695300	64695300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatatcttccggactctGccgcccagtgagaaccctga	10	13	2	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:64695300G>A	ENST00000164133.2	+	4	1045	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	141					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCCGGACTCTGCCGCCCAGTG	0.522																																																	0								ENSG00000068971						81	81	81					11																	64695300		2201	4297	6498	PPP2R5B	SO:0001819	synonymous_variant	0			-	HGNC	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.423G>A	11.37:g.64695300G>A		Somatic	0	75	0		0.513044603562384	81	21.36	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	27.12	Q13853	Silent	SNP							pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.L141	ENST00000164133.2	37	c.423	CCDS8085.1	11																																																																																			-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.522	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	protein_coding	OTTHUMT00000385465.1	G	NM_006244	-		64695300	1	no_errors	ENST00000164133	ensembl	human	known	74_37	silent	SNP	0.968	A	A	64695300	G	A	64695300	2	1	86	1	0	0	0	0	0	0	0	1	12398	1306	46	2		2	PPP2R5B	11	64695300	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	28079770	64695300	70311216	46	4883											
CATSPER1	117144	genome.wustl.edu	37	chr11	65788571	65788571	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaggatacagaggcAggtaaacatgaggatgagga	14	7	0	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:65788571A>C	ENST00000312106.5	-	5	1914	c.1777T>G	c.(1777-1779)Tgc>Ggc	p.C593G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	593					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATACAGAGGCAGGTAAACATG	0.662																																																	0								ENSG00000175294						49	36	40					11																	65788571		2200	4295	6495	CATSPER1	SO:0001583	missense	0			-	HGNC	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1777T>G	11.37:g.65788571A>C	ENSP00000309052:p.Cys593Gly	Somatic	0	244	0		0.513044603562384	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	95	93	50.53	Q96P76	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.C593G	ENST00000312106.5	37	c.1777	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622201	0.66787	.	.	ENSG00000175294	ENST00000312106	D	0.98567	-5.0	4.95	3.81	0.43845	Ion transport (1);	0.210019	0.24229	N	0.040370	D	0.96858	0.8974	N	0.25789	0.76	0.35241	D	0.777809	D	0.58268	0.982	P	0.58780	0.845	D	0.97241	0.9891	10	0.72032	D	0.01	-33.289	8.0064	0.30327	0.8187:0.0:0.0:0.1813	.	593	Q8NEC5	CTSR1_HUMAN	G	593	ENSP00000309052:C593G	ENSP00000309052:C593G	C	-	1	0	CATSPER1	65545147	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.622000	0.67750	0.718000	0.32166	0.459000	0.35465	TGC	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.662	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	A	NM_053054	-		65788571	-1	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	SNP	1.000	C	C	65788571	A	C	65788571	3	2	86	1	0	0	0	0	1	0	0	0	2689	188	7	5	597	5	CATSPER1	11	65788571	Missense_Mutation	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	1093271	65788571	69217945	47	4884											
GDPD5	81544	genome.wustl.edu	37	chr11	75155507	75155508	+	Frame_Shift_Ins	INS	-	-	C													agcttctgctcgagggccttINSccggaaggacatgagcgtgt							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:75155507_75155508insC	ENST00000336898.3	-	10	1584_1585	c.747_748insG	c.(745-750)cggaagfs	p.K250fs	GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.K250fs|GDPD5_ENST00000526177.1_Frame_Shift_Ins_p.K112fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.K131fs|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.K5fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.K131fs	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	250	GP-PDE.				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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCGAGGGCCTTCCGGAAGGACA	0.589																																																	0								ENSG00000158555																																			GDPD5	SO:0001589	frameshift_variant	0				HGNC	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.748dupG	11.37:g.75155509_75155509dupC	ENSP00000337972:p.Lys250fs	Somatic	0	72	0		0.513044603562384	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Frame_Shift_Ins	INS							pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.K249fs	ENST00000336898.3	37	c.748_747	CCDS8238.1	11																																																																																			-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl		0.589	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	protein_coding	OTTHUMT00000384409.1	-	NM_030792			75155508	-1	no_errors	ENST00000336898	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.998	C	C	75155508	-	C	75155507	7	5	86	1	0	1	1	0	0	0	0	0	6329	1792	62	0	1101	0	GDPD5	11	75155507	Frame_Shift_Ins	INS	-	TCGA-DX-A7EM-01A-11D-A36J-09	9366936	75155507	59851009	48	4885											
GPR83	10888	genome.wustl.edu	37	chr11	94134307	94134307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagaagtgcgaggcattgGgcacggccagggccgcctcc	16	12	0	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:94134307G>T	ENST00000243673.2	-	1	278	c.107C>A	c.(106-108)cCc>cAc	p.P36H	GPR83_ENST00000539203.2_Missense_Mutation_p.P36H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	36					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGAGGCATTGGGCACGGCCAG	0.662																																																	0								ENSG00000123901						51	54	53					11																	94134307		2201	4298	6499	GPR83	SO:0001583	missense	0			-	HGNC	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.107C>A	11.37:g.94134307G>T	ENSP00000243673:p.Pro36His	Somatic	0	51	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P36H	ENST00000243673.2	37	c.107	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195642	0.58126	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61859	0.07;0.09	4.68	4.68	0.58851	.	0.171432	0.40728	N	0.001030	T	0.67116	0.2859	M	0.62723	1.935	0.45227	D	0.99823	D	0.64830	0.994	P	0.53722	0.733	T	0.71748	-0.4499	10	0.59425	D	0.04	.	16.5734	0.84631	0.0:0.0:1.0:0.0	.	36	Q9NYM4	GPR83_HUMAN	H	36	ENSP00000243673:P36H;ENSP00000441550:P36H	ENSP00000243673:P36H	P	-	2	0	GPR83	93773955	1.000000	0.71417	0.922000	0.36590	0.397000	0.30659	3.838000	0.55828	2.162000	0.67917	0.462000	0.41574	CCC	-	NULL		0.662	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	protein_coding	OTTHUMT00000396232.1	G	NM_016540	-		94134307	-1	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	SNP	0.975	T	T	94134307	G	T	94134307	3	4	86	1	0	0	0	0	1	0	0	0	6715	1232	43	3	1180	3	GPR83	11	94134307	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	18978800	94134307	40872209	49	4886											
BTG4	54766	genome.wustl.edu	37	chr11	111369380	111369380	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgccagtgacttctgtatGtttcaaacaagatcgtcatc	8	9	3	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:111369380G>C	ENST00000356018.2	-	2	321	c.122C>G	c.(121-123)aCa>aGa	p.T41R	BTG4_ENST00000525791.1_Missense_Mutation_p.T41R	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	41					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		ACTTCTGTATGTTTCAAACAA	0.413																																																	0								ENSG00000137707						129	111	117					11																	111369380		2201	4297	6498	BTG4	SO:0001583	missense	0			-	HGNC	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.122C>G	11.37:g.111369380G>C	ENSP00000348300:p.Thr41Arg	Somatic	0	68	0		0.513044603562384	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	Q8NEH7	Missense_Mutation	SNP							pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.T41R	ENST00000356018.2	37	c.122	CCDS8346.1	11	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635100	0.29068	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.47	4.48	0.54585	Anti-proliferative protein (3);	0.243504	0.46758	D	0.000278	T	0.14227	0.0344	N	0.01668	-0.77	0.27557	N	0.950305	B;B	0.22003	0.002;0.063	B;B	0.22152	0.01;0.038	T	0.17501	-1.0367	9	0.14656	T	0.56	.	12.7162	0.57117	0.0:0.0:0.445:0.555	.	41;41	Q8NEH7;Q9NY30	.;BTG4_HUMAN	R	41	.	ENSP00000348300:T41R	T	-	2	0	BTG4	110874590	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.754000	0.55189	1.103000	0.41568	0.591000	0.81541	ACA	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn		0.413	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG4	protein_coding	OTTHUMT00000391177.1	G		-		111369380	-1	no_errors	ENST00000356018	ensembl	human	known	74_37	missense	SNP	0.974	C	C	111369380	G	C	111369380	3	2	86	1	0	0	0	0	1	0	0	0	1558	1377	48	4	569	4	BTG4	11	111369380	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	17235073	111369380	23637136	50	4887											
APOA5	116519	genome.wustl.edu	37	chr11	116660976	116660976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaaactctggggcgaaGgcactgtggcctggtggagg	18	7	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:116660976G>A	ENST00000227665.4	-	3	1003	c.969C>T	c.(967-969)gcC>gcT	p.A323A	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Silent_p.A323A			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	323					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGGGGCGAAGGCACTGTGGC	0.592																																																	0								ENSG00000110243						100	94	96					11																	116660976		2201	4296	6497	APOA5	SO:0001819	synonymous_variant	0			-	HGNC	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.969C>T	11.37:g.116660976G>A		Somatic	0	65	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Silent	SNP							pfam_ApoA1_A4_E	p.A323	ENST00000227665.4	37	c.969	CCDS8376.2	11																																																																																			-	NULL		0.592	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	protein_coding	OTTHUMT00000106285.2	G		-		116660976	-1	no_errors	ENST00000227665	ensembl	human	known	74_37	silent	SNP	1.000	A	A	116660976	G	A	116660976	2	1	86	1	0	0	0	0	0	0	0	1	784	987	35	2		2	APOA5	11	116660976	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	5291596	116660976	18345540	51	4888											
NLRX1	79671	genome.wustl.edu	37	chr11	119050471	119050471	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggctcaggccatggtgctgGagatgtttcgagaggaggac	17	7	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:119050471G>T	ENST00000409109.1	+	7	2328	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	NLRX1_ENST00000409265.4_Nonsense_Mutation_p.E581*|NLRX1_ENST00000525863.1_Nonsense_Mutation_p.E581*|NLRX1_ENST00000292199.2_Nonsense_Mutation_p.E581*|NLRX1_ENST00000409991.1_Nonsense_Mutation_p.E581*	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	581	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		CATGGTGCTGGAGATGTTTCG	0.607																																																	0								ENSG00000160703						112	115	114					11																	119050471		2200	4295	6495	NLRX1	SO:0001587	stop_gained	0			-	HGNC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1741G>T	11.37:g.119050471G>T	ENSP00000387334:p.Glu581*	Somatic	0	85	0		0.513044603562384	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Nonsense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.E581*	ENST00000409109.1	37	c.1741	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	G	44	10.742915	0.99460	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	.	.	.	X	581	.	ENSP00000292199:E581X	E	+	1	0	NLRX1	118555681	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.325000	0.96381	2.503000	0.84419	0.561000	0.74099	GAG	-	NULL		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	protein_coding	OTTHUMT00000335403.1	G	NM_170722	-		119050471	1	no_errors	ENST00000292199	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	119050471	G	T	119050471	4	4	86	1	0	0	0	0	0	1	0	0	10487	1175	41	3	1763	3	NLRX1	11	119050471	Nonsense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	2389495	119050471	15956045	52	4889											
ROBO3	64221	genome.wustl.edu	37	chr11	124750363	124750363	+	Frame_Shift_Del	DEL	G	G	-													agcttcctgtcccggggccaGggcaccagcacatgttccac							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr11:124750363delG	ENST00000397801.1	+	27	4200	c.4008delG	c.(4006-4008)cagfs	p.Q1336fs	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Frame_Shift_Del_p.Q99fs|ROBO3_ENST00000538940.1_Frame_Shift_Del_p.Q1314fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1336					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCGGGGCCAGGGCACCAGCA	0.657																																																	0								ENSG00000154134						24	29	27					11																	124750363		2024	4195	6219	ROBO3	SO:0001589	frameshift_variant	0				HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4008delG	11.37:g.124750363delG	ENSP00000380903:p.Gln1336fs	Somatic	0	26	0		0.513044603562384	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00		Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1337fs	ENST00000397801.1	37	c.4008	CCDS44755.1	11																																																																																			-	NULL		0.657	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	G	XM_370663			124750363	1	no_errors	ENST00000397801	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	124750363	G	-	124750363	7	5	86	1	0	1	0	1	0	0	0	0	13523	991	35	0	4114	0	ROBO3	11	124750363	Frame_Shift_Del	DEL	G	TCGA-DX-A7EM-01A-11D-A36J-09	5699892	124750363	10256153	53	4890											
DDX23	9416	genome.wustl.edu	37	chr12	49224454	49224454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcctgctcgtcccgtgCggccaatgcggtggatgtaa	13	12	1	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr12:49224454C>T	ENST00000308025.3	-	17	2340	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	754	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TCGTCCCGTGCGGCCAATGCG	0.572																																																	0								ENSG00000174243						93	80	84					12																	49224454		2203	4300	6503	DDX23	SO:0001583	missense	0			-	HGNC	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.2261G>A	12.37:g.49224454C>T	ENSP00000310723:p.Arg754His	Somatic	0	66	0		0.513044603562384	155	0.64	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B2R600|B4DH15|O43188	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R754H	ENST00000308025.3	37	c.2261	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.586395	0.96578	.	.	ENSG00000174243	ENST00000308025	D	0.99143	-5.48	5.97	5.97	0.96955	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97700	1.0184	10	0.87932	D	0	-3.566	19.1994	0.93704	0.0:1.0:0.0:0.0	.	754	Q9BUQ8	DDX23_HUMAN	H	754	ENSP00000310723:R754H	ENSP00000310723:R754H	R	-	2	0	DDX23	47510721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.837000	0.97791	0.655000	0.94253	CGC	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.572	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	protein_coding	OTTHUMT00000408897.2	C	NM_004818	-		49224454	-1	no_errors	ENST00000308025	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49224454	C	T	49224454	3	4	86	1	0	0	0	0	1	0	0	0	4352	768	27	1	205	1	DDX23	12	49224454	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		49224454	84627441	54	4891											
ATF7	11016	genome.wustl.edu	37	chr12	53911055	53911055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagagcgaacactgaGgccattgctaggggctgttg	15	9	0	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr12:53911055G>T	ENST00000548446.2	-	12	1463	c.1351C>A	c.(1351-1353)Ctc>Atc	p.L451I	ATF7_ENST00000456903.4_Missense_Mutation_p.L440I|ATF7_ENST00000328463.7_Missense_Mutation_p.L451I|ATF7_ENST00000420353.2_Missense_Mutation_p.L440I|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000415113.1_Missense_Mutation_p.L419I|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000546661.1_5'UTR			P17544	ATF7_HUMAN	activating transcription factor 7	451	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CGAACACTGAGGCCATTGCTA	0.572																																																	0								ENSG00000170653						88	89	89					12																	53911055		2059	4200	6259	ATF7	SO:0001583	missense	0			-	HGNC	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1351C>A	12.37:g.53911055G>T	ENSP00000449938:p.Leu451Ile	Somatic	0	21	0		0.513044603562384	53	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP							pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.L451I	ENST00000548446.2	37	c.1351		12	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661408	0.67700	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.48201	0.82;0.82;0.85;0.82;0.82	4.6	4.6	0.57074	.	0.150333	0.45126	D	0.000398	T	0.63260	0.2496	L	0.53249	1.67	0.58432	D	0.999992	D;D;B	0.67145	0.996;0.993;0.267	D;D;B	0.72625	0.978;0.952;0.039	T	0.60974	-0.7156	10	0.38643	T	0.18	-22.2708	16.792	0.85591	0.0:0.0:1.0:0.0	.	419;440;451	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	I	451;451;264;419;440;440	ENSP00000449938:L451I;ENSP00000329212:L451I;ENSP00000404880:L419I;ENSP00000399465:L440I;ENSP00000387406:L440I	ENSP00000304187:L264I	L	-	1	0	ATF7	52197322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.731000	0.68554	2.582000	0.87167	0.555000	0.69702	CTC	-	pirsf_TF_cAMP-dep		0.572	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ATF7	protein_coding	OTTHUMT00000406302.2	G	NM_001130059	-		53911055	-1	no_errors	ENST00000328463	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53911055	G	T	53911055	3	4	86	1	0	0	0	0	1	0	0	0	1086	1000	35	3	137	3	ATF7	12	53911055	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	4686601	53911055	79940840	55	4892											
E2F7	144455	genome.wustl.edu	37	chr12	77440013	77440013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttggcaggctgtgccGtccatgccagccatactgat	12	11	0	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr12:77440013G>A	ENST00000322886.7	-	5	869	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	E2F7_ENST00000416496.2_Missense_Mutation_p.R212W	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	212					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|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)|identical protein binding (GO:0042802)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGGCTGTGCCGTCCATGCCAG	0.517																																																	0								ENSG00000165891						104	99	101					12																	77440013		2203	4300	6503	E2F7	SO:0001583	missense	0			-	HGNC	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.634C>T	12.37:g.77440013G>A	ENSP00000323246:p.Arg212Trp	Somatic	0	31	0		0.513044603562384	22	47.83	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP							pfam_E2F_TDP	p.R212W	ENST00000322886.7	37	c.634	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682816	0.88542	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.21361	2.27;2.01;2.01	6.17	4.31	0.51392	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.103999	0.64402	D	0.000002	T	0.46580	0.1400	M	0.76002	2.32	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.44283	-0.9338	10	0.48119	T	0.1	-12.9512	14.932	0.70923	0.0:0.0:0.7388:0.2612	.	212;212	F8VSE7;Q96AV8	.;E2F7_HUMAN	W	212	ENSP00000323246:R212W;ENSP00000393639:R212W;ENSP00000448245:R212W	ENSP00000323246:R212W	R	-	1	2	E2F7	75964144	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.733000	0.68571	0.893000	0.36288	0.655000	0.94253	CGG	-	NULL		0.517	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	protein_coding	OTTHUMT00000406716.1	G	XM_084871	-		77440013	-1	no_errors	ENST00000322886	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77440013	G	A	77440013	3	1	86	1	0	0	0	0	1	0	0	0	4874	1144	40	1	2137	1	E2F7	12	77440013	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	23528958	77440013	56411882	56	4893											
FAM48A	55578	genome.wustl.edu	37	chr13	37607692	37607692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtggttcagctgtagctaGgatgagctggctctcaagca	14	8	2	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr13:37607692G>T	ENST00000350612.6	-	10	821	c.601C>A	c.(601-603)Cta>Ata	p.L201I	SUPT20H_ENST00000542180.1_Missense_Mutation_p.L189I|SUPT20H_ENST00000356185.3_Missense_Mutation_p.L202I|SUPT20H_ENST00000360252.4_Missense_Mutation_p.L202I|SUPT20H_ENST00000475892.1_Missense_Mutation_p.L201I|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L202I|AL138706.1_ENST00000408173.1_RNA	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	201					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GCTGTAGCTAGGATGAGCTGG	0.393																																																	0								ENSG00000102710						154	134	141					13																	37607692		2203	4300	6503	SUPT20H	SO:0001583	missense	0			-	HGNC	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.601C>A	13.37:g.37607692G>T	ENSP00000218894:p.Leu201Ile	Somatic	0	77	0		0.513044603562384	113	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP							pfam_Spt20	p.L201I	ENST00000350612.6	37	c.601	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975899	0.74360	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.85	3.9	0.45041	.	0.000000	0.64402	D	0.000004	T	0.67581	0.2908	M	0.87180	2.865	0.49687	D	0.999814	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.995;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.979;0.98;0.98;1.0;1.0	T	0.67703	-0.5602	10	0.72032	D	0.01	-11.5162	5.7981	0.18397	0.537:0.0:0.463:0.0	.	189;201;201;202;202;201	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	I	202;201;201;202;201;202;189	ENSP00000353388:L202I;ENSP00000417510:L201I;ENSP00000218894:L201I;ENSP00000348512:L202I;ENSP00000419754:L202I;ENSP00000439000:L189I	ENSP00000218894:L201I	L	-	1	2	FAM48A	36505692	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	3.426000	0.52778	0.740000	0.32651	0.655000	0.94253	CTA	-	pfam_Spt20		0.393	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	protein_coding	OTTHUMT00000354766.1	G	NM_017569	-		37607692	-1	no_errors	ENST00000350612	ensembl	human	known	74_37	missense	SNP	0.999	T	T	37607692	G	T	37607692	3	4	86	1	0	0	0	0	1	0	0	0	5574	991	35	3	1806	3	FAM48A	13	37607692	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		37607692	77562186	57	4894											
RB1	5925	genome.wustl.edu	37	chr13	49037932	49037933	+	Frame_Shift_Del	DEL	TG	TG	-													gaccttaaattcaaaatcatTgtaacagcatacaaggatct							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr13:49037932_49037933delTG	ENST00000267163.4	+	21	2310_2311	c.2172_2173delTG	c.(2170-2175)attgtafs	p.V725fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	725	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCAAAATCATTGTAACAGCATA	0.302		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)						ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2172_2173delTG	13.37:g.49037932_49037933delTG	ENSP00000267163:p.Val725fs	Somatic	0	34	0		0.513044603562384	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.V725fs	ENST00000267163.4	37	c.2172_2173	CCDS31973.1	13																																																																																			-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like		0.302	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	TG				49037933	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	0.997:1.000	-	-	49037933	TG	-	49037932	7	5	86	1	0	1	0	1	0	0	0	0	13106	1800	63	0	2254	0	RB1	13	49037932	Frame_Shift_Del	DEL	TG	TCGA-DX-A7EM-01A-11D-A36J-09	11430240	49037932	66131946	58	4895											
RB1	5925	genome.wustl.edu	37	chr13	49037972	49037972	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgctgttcaggagGtaggtaattttccatagtaa	9	7	2	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr13:49037972G>A	ENST00000267163.4	+	21	2349		c.e21+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGTTCAGGAGGTAGGTAATTT	0.303		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	25	Whole gene deletion(15)|Unknown(10)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CS013111|CS022882|CS040295	RB1	S		ENSG00000139687						82	84	84					13																	49037972		2203	4291	6494	RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2211+1G>A	13.37:g.49037972G>A		Somatic	0	32	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP							-	e21+1	ENST00000267163.4	37	c.2211+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006365	0.93287	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47935973	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.281000	0.95811	2.941000	0.99782	0.655000	0.94253	.	-	-		0.303	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-	Intron	49037972	1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	49037972	G	A	49037972	5	1	86	1	0	0	0	0	0	0	1	0	13106	1275	44	2	2294	2	RB1	13	49037972	Splice_Site	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	40	49037972	66131906	59	4896											
MYCBP2	23077	genome.wustl.edu	37	chr13	77667412	77667412	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaacgtagatatctcaTttcatcctggaatagattgt	8	6	2	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr13:77667412T>A	ENST00000544440.2	-	59	10158	c.10141A>T	c.(10141-10143)Atg>Ttg	p.M3381L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3381L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M3419L					MYC binding protein 2, E3 ubiquitin protein ligase											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)		AGATATCTCATTTCATCCTGG	0.378																																																	0								ENSG00000005810						157	152	154					13																	77667412		2203	4300	6503	MYCBP2	SO:0001583	missense	0			-	HGNC	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.10141A>T	13.37:g.77667412T>A	ENSP00000444596:p.Met3381Leu	Somatic	0	67	0		0.513044603562384	46	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11		Missense_Mutation	SNP							pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.M3419L	ENST00000544440.2	37	c.10255		13	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834375	0.32421	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.25912	1.77;1.77;1.77	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	N	0.22421	0.69	0.58432	D	0.999997	B	0.27068	0.167	B	0.41332	0.354	T	0.03651	-1.1016	10	0.06625	T	0.88	.	16.0628	0.80852	0.0:0.0:0.0:1.0	.	3381	O75592	MYCB2_HUMAN	L	3381;3419;3381	ENSP00000349892:M3381L;ENSP00000384288:M3419L;ENSP00000444596:M3381L	ENSP00000349892:M3381L	M	-	1	0	MYCBP2	76565413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.696000	0.84270	2.189000	0.69895	0.455000	0.32223	ATG	-	superfamily_ARM-type_fold		0.378	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	T	NM_015057	-		77667412	-1	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77667412	T	A	77667412	3	1	86	1	0	0	0	0	1	0	0	0	10020	1493	52	5	3881	5	MYCBP2	13	77667412	Missense_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	28629440	77667412	37502466	60	4897											
ZNF828	283489	genome.wustl.edu	37	chr13	115090079	115090079	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagttctagctgcttccccAgaaccttggggaccatcccc	8	17	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr13:115090079A>G	ENST00000361283.1	+	3	1071	c.762A>G	c.(760-762)ccA>ccG	p.P254P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	254	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTGCTTCCCCAGAACCTTGGG	0.562																																																	0								ENSG00000198824						67	77	74					13																	115090079		2203	4300	6503	CHAMP1	SO:0001819	synonymous_variant	0			-	HGNC	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.762A>G	13.37:g.115090079A>G		Somatic	0	56	0		0.513044603562384	26	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P254	ENST00000361283.1	37	c.762	CCDS9545.1	13																																																																																			-	NULL		0.562	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	protein_coding	OTTHUMT00000045977.2	A	NM_032436	-		115090079	1	no_errors	ENST00000361283	ensembl	human	known	74_37	silent	SNP	0.973	G	G	115090079	A	G	115090079	2	3	86	1	0	0	0	0	0	0	0	1	18188	175	7	5		5	ZNF828	13	115090079	Silent	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	37422667	115090079	79799	61	4898											
GALC	2581	genome.wustl.edu	37	chr14	88454869	88454870	+	Splice_Site	INS	-	-	A													tagaagtcgggaggttgcctINSaaaaaaaaaagttttcaaaa					rs561184126	byFrequency	TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr14:88454869_88454870insA	ENST00000261304.2	-	2	302		c.e2-2		GALC_ENST00000393568.4_Intron|GALC_ENST00000393569.2_Splice_Site|GALC_ENST00000544807.2_Splice_Site|GALC_ENST00000554916.1_Splice_Site	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase						carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGGTTGCCTAAAAAAAAAAG	0.351																																																	0								ENSG00000054983																																			GALC	SO:0001630	splice_region_variant	0				HGNC	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.196-2->T	14.37:g.88454879_88454879dupA		Somatic	0	29	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Splice_Site	INS							-	e2-2	ENST00000261304.2	37	c.196-3_196-2	CCDS9878.2	14																																																																																			-	-		0.351	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	protein_coding	OTTHUMT00000071559.2	-			Intron	88454870	-1	no_errors	ENST00000261304	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.945	A	A	88454870	-	A	88454869	8	5	86	1	0	1	1	0	0	0	1	0	6203	1536	53	0	1990	0	GALC	14	88454869	Splice_Site	INS	-	TCGA-DX-A7EM-01A-11D-A36J-09		88454869	18894671	62	4899											
SERPINA5	5104	genome.wustl.edu	37	chr14	95053727	95053727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcttgtgcctgGtgcttctcagccctcagggg	10	15	4	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr14:95053727G>A	ENST00000554866.1	+	2	142	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	SERPINA5_ENST00000554276.1_Missense_Mutation_p.V10M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V10M|SERPINA5_ENST00000329597.7_Missense_Mutation_p.V10M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	10					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTGTGCCTGGTGCTTCTCAG	0.607																																																	0								ENSG00000188488						75	83	80					14																	95053727		2203	4300	6503	SERPINA5	SO:0001583	missense	0			-	HGNC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.28G>A	14.37:g.95053727G>A	ENSP00000451126:p.Val10Met	Somatic	0	57	0		0.513044603562384	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q07616|Q9UG30	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V10M	ENST00000554866.1	37	c.28	CCDS9928.1	14	.	.	.	.	.	.	.	.	.	.	G	8.120	0.780763	0.16120	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554506;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598;ENST00000556064	D;D;D;D;D;T;T;T;T;D;T	0.88201	-1.72;-1.72;-2.35;-1.72;-1.72;-0.91;-0.91;-0.91;-0.91;-1.72;-0.91	4.43	-8.86	0.00795	Serpin domain (1);	4.446440	0.00732	N	0.000946	T	0.71281	0.3321	N	0.08118	0	0.18873	N	0.999989	B;B	0.17268	0.021;0.012	B;B	0.15484	0.013;0.006	T	0.61013	-0.7148	10	0.34782	T	0.22	.	1.7214	0.02912	0.3481:0.1695:0.3565:0.1259	.	10;10	G3V5Q9;P05154	.;IPSP_HUMAN	M	10	ENSP00000450484:V10M;ENSP00000450837:V10M;ENSP00000452469:V10M;ENSP00000451126:V10M;ENSP00000333203:V10M;ENSP00000450745:V10M;ENSP00000451215:V10M;ENSP00000451697:V10M;ENSP00000451650:V10M;ENSP00000451610:V10M;ENSP00000450485:V10M	ENSP00000333203:V10M	V	+	1	0	SERPINA5	94123480	0.000000	0.05858	0.019000	0.16419	0.621000	0.37620	-2.502000	0.00965	-1.278000	0.02408	-0.311000	0.09066	GTG	-	superfamily_Serpin_dom		0.607	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	protein_coding	OTTHUMT00000410726.1	G	NM_000624	-		95053727	1	no_errors	ENST00000329597	ensembl	human	known	74_37	missense	SNP	0.169	A	A	95053727	G	A	95053727	3	1	86	1	0	0	0	0	1	0	0	0	14100	1261	44	2	30	2	SERPINA5	14	95053727	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	6598858	95053727	12295813	63	4900											
PPP1R13B	23368	genome.wustl.edu	37	chr14	104202499	104202499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtagtcccacagagcataCgccacacctttgttcatcac	6	15	2	1	rs375070779		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr14:104202499C>T	ENST00000202556.9	-	16	3354	c.3072G>A	c.(3070-3072)gcG>gcA	p.A1024A	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.V388I|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	1024	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACAGAGCATACGCCACACCTT	0.607																																																	0								ENSG00000088808	C		0,4316		0,0,2158	142	145	144		3072	-0.1	0.6	14		144	1,8503		0,1,4251	no	coding-synonymous	PPP1R13B	NM_015316.2		0,1,6409	TT,TC,CC		0.0118,0.0,0.0078		1024/1091	104202499	1,12819	2158	4252	6410	PPP1R13B	SO:0001819	synonymous_variant	0			-	HGNC	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.3072G>A	14.37:g.104202499C>T		Somatic	0	80	0		0.513044603562384	30	30.23	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	32	39.62	B2RMX5|O94870	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V388I	ENST00000202556.9	37	c.1162	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353459	0.61293	0.0	1.18E-4	ENSG00000088808	ENST00000423488	T	0.53640	0.61	5.39	-0.0717	0.13742	.	.	.	.	.	T	0.28797	0.0714	.	.	.	0.21184	N	0.999764	.	.	.	.	.	.	T	0.28235	-1.0050	6	0.16420	T	0.52	.	7.3741	0.26818	0.0:0.4407:0.3602:0.199	.	.	.	.	I	388	ENSP00000395213:V388I	ENSP00000395213:V388I	V	-	1	0	PPP1R13B	103272252	0.995000	0.38212	0.635000	0.29338	0.951000	0.60555	0.527000	0.22987	0.230000	0.21059	0.555000	0.69702	GTA	-	NULL		0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	protein_coding	OTTHUMT00000414591.1	C	NM_015316	-		104202499	-1	no_errors	ENST00000423488	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104202499	C	T	104202499	2	4	86	1	0	0	0	0	0	0	0	1	12362	523	19	1		1	PPP1R13B	14	104202499	Silent	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	9148772	104202499	3147041	64	4901											
BRF1	2972	genome.wustl.edu	37	chr14	105678473	105678473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtggccaccttctttgCtggctgcgtagacaccagag	11	14	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr14:105678473C>T	ENST00000546474.1	-	16	16760	c.1801G>A	c.(1801-1803)Gca>Aca	p.A601T	BRF1_ENST00000547530.1_Missense_Mutation_p.A127T|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.A397T|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.A508T|BRF1_ENST00000379937.2_Missense_Mutation_p.A574T|BRF1_ENST00000327359.3_Missense_Mutation_p.A486T|BRF1_ENST00000446501.2_Missense_Mutation_p.A363T	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	601					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACCTTCTTTGCTGGCTGCGTA	0.627																																																	0								ENSG00000185024						94	74	81					14																	105678473		2202	4299	6501	BRF1	SO:0001583	missense	0			-	HGNC	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1801G>A	14.37:g.105678473C>T	ENSP00000448323:p.Ala601Thr	Somatic	0	80	0		0.513044603562384	62	31.87	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	28.77	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP							pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.A601T	ENST00000546474.1	37	c.1801	CCDS10001.1	14	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592632	0.28357	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000547530;ENST00000446501;ENST00000327359;ENST00000440513	.	.	.	3.93	3.03	0.35002	.	0.228496	0.36066	N	0.002813	T	0.30417	0.0764	L	0.40543	1.245	0.09310	N	0.999993	B;P;P;B	0.35174	0.043;0.488;0.478;0.054	B;B;B;B	0.33254	0.054;0.079;0.16;0.034	T	0.17684	-1.0361	9	0.51188	T	0.08	.	7.972	0.30132	0.0:0.8797:0.0:0.1203	.	508;160;574;601	F5H5Z7;Q6ZV39;Q92994-5;Q92994	.;.;.;TF3B_HUMAN	T	397;574;601;127;363;486;508	.	ENSP00000329029:A486T	A	-	1	0	BRF1	104749518	0.035000	0.19736	0.157000	0.22605	0.559000	0.35586	0.588000	0.23924	0.926000	0.37118	0.430000	0.28490	GCA	-	NULL		0.627	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	protein_coding	OTTHUMT00000074548.4	C	NM_001519	-		105678473	-1	no_errors	ENST00000546474	ensembl	human	known	74_37	missense	SNP	0.033	T	T	105678473	C	T	105678473	3	4	86	1	0	0	0	0	1	0	0	0	1512	797	28	2	244	2	BRF1	14	105678473	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	1475974	105678473	1671067	65	4902											
THBS1	7057	genome.wustl.edu	37	chr15	39876249	39876249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccagccctgccatccGcactaactacattggccaca	7	16	0	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr15:39876249G>A	ENST00000260356.5	+	5	929	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	255	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CCTGCCATCCGCACTAACTAC	0.512											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000137801						74	70	72					15																	39876249		2200	4297	6497	THBS1	SO:0001583	missense	0			-	HGNC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.764G>A	15.37:g.39876249G>A	ENSP00000260356:p.Arg255His	Somatic	0	77	0	889	0.513044603562384	1784	0.28	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R255H	ENST00000260356.5	37	c.764	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977309	0.92982	.	.	ENSG00000137801	ENST00000260356	T	0.77877	-1.13	5.88	5.88	0.94601	.	0.000000	0.36555	N	0.002526	D	0.82337	0.5015	M	0.70275	2.135	0.47511	D	0.999448	D	0.60160	0.987	P	0.48488	0.579	T	0.83162	-0.0098	10	0.51188	T	0.08	-32.5056	19.2015	0.93713	0.0:0.0:1.0:0.0	.	255	P07996	TSP1_HUMAN	H	255	ENSP00000260356:R255H	ENSP00000260356:R255H	R	+	2	0	THBS1	37663541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.624000	0.74243	2.786000	0.95864	0.655000	0.94253	CGC	-	NULL		0.512	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	protein_coding	OTTHUMT00000257831.2	G	NM_003246	-		39876249	1	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39876249	G	A	39876249	3	1	86	1	0	0	0	0	1	0	0	0	15860	1087	38	1	778	1	THBS1	15	39876249	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		39876249	62655143	66	4903											
PRTG	283659	genome.wustl.edu	37	chr15	55965592	55965592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgcttgtagctttgggcGtcctatgtgaagtccatact	10	10	1	1	rs373946986		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr15:55965592G>A	ENST00000389286.4	-	10	1876	c.1829C>T	c.(1828-1830)aCg>aTg	p.T610M		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGCTTTGGGCGTCCTATGTGA	0.413																																																	0								ENSG00000166450	G	MET/THR	2,3764		0,2,1881	61	60	60		1829	4.7	0.9	15		60	0,8220		0,0,4110	no	missense	PRTG	NM_173814.4	81	0,2,5991	AA,AG,GG		0.0,0.0531,0.0167	probably-damaging	610/1151	55965592	2,11984	1883	4110	5993	PRTG	SO:0001583	missense	0			-	HGNC	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1829C>T	15.37:g.55965592G>A	ENSP00000373937:p.Thr610Met	Somatic	0	42	0		0.513044603562384	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00		Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T610M	ENST00000389286.4	37	c.1829	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389444	0.61956	5.31E-4	0.0	ENSG00000166450	ENST00000389286	T	0.62364	0.03	4.67	4.67	0.58626	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81658	-0.0833	10	0.87932	D	0	-15.0501	16.9427	0.86222	0.0:0.0:1.0:0.0	.	610	Q2VWP7	PRTG_HUMAN	M	610	ENSP00000373937:T610M	ENSP00000373937:T610M	T	-	2	0	PRTG	53752884	1.000000	0.71417	0.865000	0.33974	0.346000	0.29079	9.457000	0.97630	2.306000	0.77630	0.650000	0.86243	ACG	-	superfamily_Fibronectin_type3		0.413	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	protein_coding	OTTHUMT00000419357.1	G	NM_173814	-		55965592	-1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55965592	G	A	55965592	3	1	86	1	0	0	0	0	1	0	0	0	12643	1145	40	1	1667	1	PRTG	15	55965592	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	16089343	55965592	46565800	67	4904											
OTOA	146183	genome.wustl.edu	37	chr16	21716518	21716518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctggtttgtttctacaatGacctggaattgctggatgcc	11	8	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr16:21716518G>A	ENST00000286149.4	+	11	1052	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	OTOA_ENST00000388958.3_Missense_Mutation_p.D337N|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388956.4_Missense_Mutation_p.D258N|OTOA_ENST00000388957.3_Missense_Mutation_p.D13N			Q7RTW8	OTOAN_HUMAN	otoancorin	351					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)				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)		TTTCTACAATGACCTGGAATT	0.537																																																	0								ENSG00000155719						107	100	102					16																	21716518		2199	4300	6499	OTOA	SO:0001583	missense	0			-	HGNC	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.1051G>A	16.37:g.21716518G>A	ENSP00000286149:p.Asp351Asn	Somatic	0	69	0		0.513044603562384	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP							NULL	p.D351N	ENST00000286149.4	37	c.1051		16	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257204	0.59321	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78003	2.67;-1.14;2.67;-1.14	5.3	5.3	0.74995	.	0.233267	0.43110	D	0.000618	T	0.71651	0.3365	L	0.47716	1.5	0.35084	D	0.763723	P;B;P	0.36909	0.573;0.214;0.573	B;B;B	0.34991	0.193;0.098;0.193	T	0.77419	-0.2595	10	0.30078	T	0.28	-8.938	16.4606	0.84044	0.0:0.0:1.0:0.0	.	258;13;337	B3KWU3;Q7RTW8-2;E9PF51	.;.;.	N	337;351;258;13	ENSP00000373610:D337N;ENSP00000286149:D351N;ENSP00000373608:D258N;ENSP00000373609:D13N	ENSP00000286149:D351N	D	+	1	0	OTOA	21624019	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	3.636000	0.54317	2.480000	0.83734	0.561000	0.74099	GAC	-	NULL		0.537	OTOA-003	KNOWN	basic	protein_coding	OTOA	protein_coding	OTTHUMT00000430021.1	G		-		21716518	1	no_errors	ENST00000286149	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21716518	G	A	21716518	3	1	86	1	0	0	0	0	1	0	0	0	11304	1290	45	2	1097	2	OTOA	16	21716518	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		21716518	68638235	68	4905											
ZNF688	146542	genome.wustl.edu	37	chr16	30582409	30582409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcactctcctgttccaTccaagagatgagggctggtt	10	12	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr16:30582409T>C	ENST00000223459.6	-	2	1336	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000567855.1_Missense_Mutation_p.M78V|ZNF688_ENST00000563707.1_Intron|ZNF688_ENST00000395219.1_Missense_Mutation_p.M64V	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	78	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)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCTGTTCCATCCAAGAGATG	0.632																																																	0								ENSG00000229809						37	39	38					16																	30582409		2197	4300	6497	ZNF688	SO:0001583	missense	0			-	HGNC	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.232A>G	16.37:g.30582409T>C	ENSP00000223459:p.Met78Val	Somatic	0	156	0		0.513044603562384	47	22.95	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	72	25.77	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M78V	ENST00000223459.6	37	c.232	CCDS10684.1	16	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638833	0.29157	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.03413	3.94;5.79	5.2	2.98	0.34508	Krueppel-associated box (3);	.	.	.	.	T	0.01254	0.0041	N	0.01352	-0.895	0.29501	N	0.854958	B;B	0.17852	0.012;0.024	B;B	0.15052	0.004;0.012	T	0.41360	-0.9513	9	0.07030	T	0.85	.	6.2962	0.21087	0.0:0.1893:0.0:0.8107	.	78;64	P0C7X2;A8MV39	ZN688_HUMAN;.	V	64;78	ENSP00000378645:M64V;ENSP00000223459:M78V	ENSP00000223459:M78V	M	-	1	0	ZNF688	30489910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.227000	0.32576	1.100000	0.41517	0.533000	0.62120	ATG	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.632	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	protein_coding	OTTHUMT00000255544.2	T	NM_145271	-		30582409	-1	no_errors	ENST00000223459	ensembl	human	known	74_37	missense	SNP	1.000	C	C	30582409	T	C	30582409	3	2	86	1	0	0	0	0	1	0	0	0	18100	1435	50	5	606	5	ZNF688	16	30582409	Missense_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09	8865891	30582409	59772344	69	4906											
LPCAT2	54947	genome.wustl.edu	37	chr16	55559549	55559549	+	Missense_Mutation	SNP	G	G	T													agctgacccacccaataactGgttggaggaggtaagaaata							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr16:55559549G>T	ENST00000262134.5	+	2	485	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	101					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCCAATAACTGGTTGGAGGAG	0.323																																																	0								ENSG00000087253						72	66	68					16																	55559549		2198	4300	6498	LPCAT2	SO:0001583	missense	0			-	HGNC	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.301G>T	16.37:g.55559549G>T	ENSP00000262134:p.Gly101Cys	Somatic	0	82	0		0.513044603562384	11	15.38	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP							pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.G101C	ENST00000262134.5	37	c.301	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395408	0.62066	.	.	ENSG00000087253	ENST00000262134	T	0.29655	1.56	5.33	4.36	0.52297	.	0.098557	0.64402	D	0.000001	T	0.47764	0.1463	M	0.79805	2.47	0.58432	D	0.99999	D	0.54397	0.966	P	0.52309	0.695	T	0.54754	-0.8246	10	0.52906	T	0.07	-3.8214	13.8217	0.63325	0.0753:0.0:0.9247:0.0	.	101	Q7L5N7	PCAT2_HUMAN	C	101	ENSP00000262134:G101C	ENSP00000262134:G101C	G	+	1	0	LPCAT2	54117050	1.000000	0.71417	0.818000	0.32626	0.931000	0.56810	4.846000	0.62860	1.358000	0.45922	0.591000	0.81541	GGT	-	NULL		0.323	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	protein_coding	OTTHUMT00000256977.2	G	NM_017839	-		55559549	1	no_errors	ENST00000262134	ensembl	human	known	74_37	missense	SNP	0.969	T	T	55559549	G	T	55559549	3	4	86	1	0	0	0	0	1	0	0	0	8913	1348	47	3	307	3	LPCAT2	16	55559549	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	24977140	55559549	34795204	70	4907	59	2									
LPCAT2	54947	genome.wustl.edu	37	chr16	55559550	55559550	+	Missense_Mutation	SNP	G	G	T													gctgacccacccaataactgGttggaggaggtaagaaataa							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr16:55559550G>T	ENST00000262134.5	+	2	486	c.302G>T	c.(301-303)gGt>gTt	p.G101V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	101					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCAATAACTGGTTGGAGGAGG	0.323																																																	0								ENSG00000087253						71	66	68					16																	55559550		2198	4300	6498	LPCAT2	SO:0001583	missense	0			-	HGNC	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.302G>T	16.37:g.55559550G>T	ENSP00000262134:p.Gly101Val	Somatic	0	82	0		0.513044603562384	10	16.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP							pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.G101V	ENST00000262134.5	37	c.302	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545044	0.27652	.	.	ENSG00000087253	ENST00000262134	T	0.27890	1.64	5.33	3.29	0.37713	.	0.098557	0.64402	D	0.000001	T	0.35624	0.0938	M	0.79805	2.47	0.80722	D	1	P	0.40302	0.712	B	0.41374	0.355	T	0.09952	-1.0651	10	0.33141	T	0.24	-3.8214	8.9079	0.35535	0.1684:0.0:0.8316:0.0	.	101	Q7L5N7	PCAT2_HUMAN	V	101	ENSP00000262134:G101V	ENSP00000262134:G101V	G	+	2	0	LPCAT2	54117051	1.000000	0.71417	0.839000	0.33178	0.922000	0.55478	1.522000	0.35921	0.637000	0.30526	0.591000	0.81541	GGT	-	NULL		0.323	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	protein_coding	OTTHUMT00000256977.2	G	NM_017839	-		55559550	1	no_errors	ENST00000262134	ensembl	human	known	74_37	missense	SNP	0.986	T	T	55559550	G	T	55559550	3	4	86	1	0	0	0	0	1	0	0	0	8913	1261	44	3	308	3	LPCAT2	16	55559550	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	1	55559550	34795203	71	4908	59	2									
VPS53	55275	genome.wustl.edu	37	chr17	440273	440273	+	Frame_Shift_Del	DEL	A	A	-													cgccccaggacttactttgcAaatttaacgcagaactgagt							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:440273delA	ENST00000571805.1	-	18	2146	c.2010delT	c.(2008-2010)tttfs	p.F670fs	VPS53_ENST00000401468.3_Frame_Shift_Del_p.F393fs|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Frame_Shift_Del_p.F472fs|RP5-1029F21.4_ENST00000570974.1_RNA|VPS53_ENST00000291074.5_Frame_Shift_Del_p.F641fs|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Frame_Shift_Del_p.F670fs			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	670					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CTTACTTTGCAAATTTAACGC	0.448																																																	0								ENSG00000141252						138	103	115					17																	440273		2203	4300	6503	VPS53	SO:0001589	frameshift_variant	0				HGNC		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.2010delT	17.37:g.440273delA	ENSP00000459312:p.Phe670fs	Somatic	0	55	0		0.513044603562384	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Frame_Shift_Del	DEL							pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.F670fs	ENST00000571805.1	37	c.2010		17																																																																																			-	NULL		0.448	VPS53-006	KNOWN	basic	protein_coding	VPS53	protein_coding	OTTHUMT00000436940.2	A	NM_018289			440273	-1	no_errors	ENST00000437048	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	440273	A	-	440273	7	5	86	1	0	1	0	1	0	0	0	0	17222	127	5	0	523	0	VPS53	17	440273	Frame_Shift_Del	DEL	A	TCGA-DX-A7EM-01A-11D-A36J-09		440273	80754937	72	4909											
DNAH9	1770	genome.wustl.edu	37	chr17	11833231	11833231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaccctggagaagaagctgGaggagcacagtgagaacagc	15	9	0	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:11833231G>C	ENST00000262442.4	+	63	11994	c.11926G>C	c.(11926-11928)Gag>Cag	p.E3976Q	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.E288Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3976	AAA 6. {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)			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)		GAAGAAGCTGGAGGAGCACAG	0.587																																																	0								ENSG00000007174						74	57	63					17																	11833231		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	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.11926G>C	17.37:g.11833231G>C	ENSP00000262442:p.Glu3976Gln	Somatic	0	55	0		0.513044603562384	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	130	10.34	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3976Q	ENST00000262442.4	37	c.11926	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029954	0.93575	.	.	ENSG00000007174	ENST00000262442;ENST00000396001	T;T	0.09817	2.94;2.94	5.19	5.19	0.71726	Dynein heavy chain (1);	0.053068	0.64402	D	0.000001	T	0.43897	0.1268	M	0.91249	3.19	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.54241	-0.8323	10	0.72032	D	0.01	.	18.9079	0.92471	0.0:0.0:1.0:0.0	.	3976	Q9NYC9	DYH9_HUMAN	Q	3976;288	ENSP00000262442:E3976Q;ENSP00000379323:E288Q	ENSP00000262442:E3976Q	E	+	1	0	DNAH9	11773956	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.601000	0.98297	2.699000	0.92147	0.563000	0.77884	GAG	-	pfam_Dynein_heavy_dom		0.587	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372	-		11833231	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11833231	G	C	11833231	3	2	86	1	0	0	0	0	1	0	0	0	4610	1175	41	4	12176	4	DNAH9	17	11833231	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	11392958	11833231	69361979	73	4910											
TMIGD1	388364	genome.wustl.edu	37	chr17	28656451	28656451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcagttcttcctctctgGtgtggttttgaacagcacat	10	9	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:28656451G>T	ENST00000328886.4	-	3	251	c.179C>A	c.(178-180)aCc>aAc	p.T60N	TMIGD1_ENST00000538566.2_Missense_Mutation_p.T60N	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	60	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTCCTCTCTGGTGTGGTTTTG	0.448																																																	0								ENSG00000182271						110	100	103					17																	28656451		2203	4300	6503	TMIGD1	SO:0001583	missense	0			-	HGNC	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.179C>A	17.37:g.28656451G>T	ENSP00000332404:p.Thr60Asn	Somatic	0	52	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K2K1|Q6ZMC6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T60N	ENST00000328886.4	37	c.179	CCDS32605.1	17	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784717	0.49997	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.12465	2.68;2.68	5.52	2.23	0.28157	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.495885	0.24630	N	0.036898	T	0.14485	0.0350	L	0.60455	1.87	0.33096	D	0.538631	D;P	0.53462	0.96;0.934	P;B	0.44990	0.466;0.417	T	0.21759	-1.0236	10	0.34782	T	0.22	-2.6684	7.0403	0.25017	0.2031:0.2093:0.5876:0.0	.	60;60	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	N	60	ENSP00000332404:T60N;ENSP00000446118:T60N	ENSP00000332404:T60N	T	-	2	0	TMIGD1	25680577	0.887000	0.30362	0.194000	0.23346	0.958000	0.62258	1.298000	0.33412	0.635000	0.30488	0.579000	0.79373	ACC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.448	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIGD1	protein_coding	OTTHUMT00000447955.1	G	NM_206832	-		28656451	-1	no_errors	ENST00000328886	ensembl	human	known	74_37	missense	SNP	0.471	T	T	28656451	G	T	28656451	3	4	86	1	0	0	0	0	1	0	0	0	16237	1261	44	3	629	3	TMIGD1	17	28656451	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	16823220	28656451	52538759	74	4911											
C17orf66	256957	genome.wustl.edu	37	chr17	34191503	34191503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccttgcctcttctcacctGtgctgcatagaactgctcat	6	14	3	1	rs143483228		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:34191503G>T	ENST00000311880.2	-	5	656	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	C17orf66_ENST00000592980.1_Missense_Mutation_p.Q130K|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		170					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTCTCACCTGTGCTGCATAG	0.507																																																	0								ENSG00000172653	G	LYS/GLN	0,4406		0,0,2203	128	119	122		508	4.2	1	17	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	C17orf66	NM_152781.2	53	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	170/571	34191503	1,13005	2203	4300	6503	C17orf66	SO:0001583	missense	0			-	HGNC																												ENST00000311880.2:c.508C>A	17.37:g.34191503G>T	ENSP00000309560:p.Gln170Lys	Somatic	0	42	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.Q170K	ENST00000311880.2	37	c.508	CCDS11299.1	17	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036812	0.35893	0.0	1.16E-4	ENSG00000172653	ENST00000311880	T	0.49432	0.78	5.17	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.320888	0.22837	N	0.055028	T	0.31734	0.0806	L	0.32530	0.975	0.23661	N	0.99717	B;P;B	0.46784	0.046;0.884;0.056	B;B;B	0.40940	0.011;0.344;0.035	T	0.10132	-1.0643	10	0.11485	T	0.65	.	8.654	0.34051	0.1042:0.0:0.8958:0.0	.	136;130;170	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	K	170	ENSP00000309560:Q170K	ENSP00000309560:Q170K	Q	-	1	0	C17orf66	31215616	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.734000	0.47368	1.372000	0.46190	0.655000	0.94253	CAG	-	superfamily_ARM-type_fold		0.507	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	protein_coding	OTTHUMT00000256487.1	G		rs143483228		34191503	-1	no_errors	ENST00000311880	ensembl	human	known	74_37	missense	SNP	0.998	T	T	34191503	G	T	34191503	3	4	86	1	0	0	0	0	1	0	0	0	1876	1386	48	3	1248	3	C17orf66	17	34191503	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	5535052	34191503	47003707	75	4912											
MAPT	4137	genome.wustl.edu	37	chr17	44060683	44060683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccacacgccaaccttcGgggacaggacctgaggacac	13	14	0	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:44060683G>A	ENST00000571987.1	+	5	513	c.513G>A	c.(511-513)tcG>tcA	p.S171S	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000344290.5_Silent_p.S171S|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000262410.5_Silent_p.S171S|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Silent_p.S171S|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	171					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GCCAACCTTCGGGGACAGGAC	0.697																																																	0								ENSG00000186868						12	14	13					17																	44060683		2193	4289	6482	MAPT	SO:0001819	synonymous_variant	0			-	HGNC	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.513G>A	17.37:g.44060683G>A		Somatic	0	33	0		0.513044603562384	27	10	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP							pfam_MAP_tubulin-bd_rpt,prints_Tau	p.S171	ENST00000571987.1	37	c.513	CCDS11501.1	17																																																																																			-	NULL		0.697	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	protein_coding	OTTHUMT00000440133.1	G	NM_016835	-		44060683	1	no_errors	ENST00000344290	ensembl	human	known	74_37	silent	SNP	0.000	A	A	44060683	G	A	44060683	2	1	86	1	0	0	0	0	0	0	0	1	9299	1103	39	1		1	MAPT	17	44060683	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	9869180	44060683	37134527	76	4913											
MYST2	11143	genome.wustl.edu	37	chr17	47869337	47869337	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcagaaagtgatggcacAtcccgacgatctgctcgagt	11	10	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:47869337A>C	ENST00000259021.4	+	2	385	c.105A>C	c.(103-105)acA>acC	p.T35T	KAT7_ENST00000424009.2_Silent_p.T35T|KAT7_ENST00000454930.2_Silent_p.T35T|KAT7_ENST00000510819.1_Silent_p.T35T|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000509773.1_Silent_p.T35T|FAM117A_ENST00000514018.1_5'Flank	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	35	Ser-rich.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGATGGCACATCCCGACGAT	0.478																																																	0								ENSG00000136504						134	120	125					17																	47869337		2203	4300	6503	KAT7	SO:0001819	synonymous_variant	0			-	HGNC	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.105A>C	17.37:g.47869337A>C		Somatic	0	101	0		0.513044603562384	83	35.88	47	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP							pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.T35	ENST00000259021.4	37	c.105	CCDS11554.1	17																																																																																			-	NULL		0.478	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	protein_coding	OTTHUMT00000366032.1	A	NM_007067	-		47869337	1	no_errors	ENST00000259021	ensembl	human	known	74_37	silent	SNP	0.112	C	C	47869337	A	C	47869337	2	2	86	1	0	0	0	0	0	0	0	1	10105	204	8	5		5	MYST2	17	47869337	Silent	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	3808654	47869337	33325873	77	4914											
CCDC40	55036	genome.wustl.edu	37	chr17	78073483	78073483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgccaccatcctggaccGcgtgcgggacgagtaccccc	11	18	0	0	rs368814379		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:78073483G>A	ENST00000397545.4	+	20	3365	c.3338G>A	c.(3337-3339)cGc>cAc	p.R1113H	GAA_ENST00000390015.3_5'Flank|GAA_ENST00000302262.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1113					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCCTGGACCGCGTGCGGGAC	0.652																																																	0								ENSG00000141519	G	HIS/ARG	0,4124		0,0,2062	42	48	46		3338	-0.3	0	17		46	1,8403		0,1,4201	no	missense	CCDC40	NM_017950.3	29	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	benign	1113/1143	78073483	1,12527	2062	4202	6264	CCDC40	SO:0001583	missense	0			-	HGNC	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3338G>A	17.37:g.78073483G>A	ENSP00000380679:p.Arg1113His	Somatic	0	76	0		0.513044603562384	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP							pfam_E3_ubiquit_lig_BRE1	p.R1113H	ENST00000397545.4	37	c.3338	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	7.263	0.605513	0.14002	0.0	1.19E-4	ENSG00000141519	ENST00000397545	T	0.45668	0.89	4.76	-0.311	0.12761	.	.	.	.	.	T	0.18800	0.0451	N	0.04297	-0.235	0.18873	N	0.999985	B;B	0.22276	0.008;0.067	B;B	0.13407	0.004;0.009	T	0.22906	-1.0203	9	0.22109	T	0.4	-13.0511	10.0461	0.42188	0.6186:0.0:0.3814:0.0	.	1113;896	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	H	1113	ENSP00000380679:R1113H	ENSP00000380679:R1113H	R	+	2	0	CCDC40	75688078	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.114000	0.10757	-0.137000	0.11455	-0.290000	0.09829	CGC	-	NULL		0.652	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	protein_coding	OTTHUMT00000256005.2	G	XM_371082	-		78073483	1	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	SNP	0.107	A	A	78073483	G	A	78073483	3	1	86	1	0	0	0	0	1	0	0	0	2814	1087	38	1	3416	1	CCDC40	17	78073483	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	30204146	78073483	3121727	78	4915											
B3GNTL1	146712	genome.wustl.edu	37	chr17	80919003	80919003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctggtccacgcggatgaCgccgccgcccttcctgaggt	12	16	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr17:80919003C>T	ENST00000320865.3	-	8	668	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_Missense_Mutation_p.V108I	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	219							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACGCGGATGACGCCGCCGCCC	0.697																																																	0								ENSG00000175711						36	32	33					17																	80919003		2203	4300	6503	B3GNTL1	SO:0001583	missense	0			-	HGNC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.655G>A	17.37:g.80919003C>T	ENSP00000319979:p.Val219Ile	Somatic	0	30	0		0.513044603562384	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q6GV30|Q8WUT3	Missense_Mutation	SNP							pfam_Glyco_trans_2	p.V219I	ENST00000320865.3	37	c.655	CCDS32778.1	17	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377366	0.11466	.	.	ENSG00000175711	ENST00000320865	T	0.47177	0.85	5.21	1.83	0.25207	.	0.195596	0.43747	D	0.000534	T	0.36248	0.0960	L	0.37630	1.12	0.09310	N	0.999994	B	0.20780	0.048	B	0.20384	0.029	T	0.21245	-1.0251	9	.	.	.	-32.6517	14.347	0.66672	0.0:0.577:0.423:0.0	.	219	Q67FW5	B3GNL_HUMAN	I	219	ENSP00000319979:V219I	.	V	-	1	0	B3GNTL1	78512292	0.035000	0.19736	0.008000	0.14137	0.041000	0.13682	1.447000	0.35101	0.676000	0.31285	0.650000	0.86243	GTC	-	NULL		0.697	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	protein_coding	OTTHUMT00000438949.1	C	NM_001009905	-		80919003	-1	no_errors	ENST00000320865	ensembl	human	known	74_37	missense	SNP	0.056	T	T	80919003	C	T	80919003	3	4	86	1	0	0	0	0	1	0	0	0	1265	536	19	1	450	1	B3GNTL1	17	80919003	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	2845520	80919003	276207	79	4916											
DSG4	147409	genome.wustl.edu	37	chr18	28993429	28993429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcggcaatattttagtaggGccagaaattcaagtgatgca	11	6	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr18:28993429G>T	ENST00000308128.4	+	16	3129	c.2994G>T	c.(2992-2994)ggG>ggT	p.G998G	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.G1017G	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	998					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTTAGTAGGGCCAGAAATTC	0.498																																																	0								ENSG00000175065						125	125	125					18																	28993429		2203	4300	6503	DSG4	SO:0001819	synonymous_variant	0			-	HGNC	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2994G>T	18.37:g.28993429G>T		Somatic	0	77	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.G1017	ENST00000308128.4	37	c.3051	CCDS11897.1	18																																																																																			-	NULL		0.498	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	protein_coding	OTTHUMT00000254941.1	G	NM_177986	-		28993429	1	no_errors	ENST00000359747	ensembl	human	known	74_37	silent	SNP	0.929	T	T	28993429	G	T	28993429	2	4	86	1	0	0	0	0	0	0	0	1	4781	1190	42	3		3	DSG4	18	28993429	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09		28993429	49083819	80	4917											
MUC16	94025	genome.wustl.edu	37	chr19	9087836	9087836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccttaggatccgtagTggtgatgtaggtggtggggt	17	4	0	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr19:9087836T>C	ENST00000397910.4	-	1	4182	c.3979A>G	c.(3979-3981)Act>Gct	p.T1327A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1327	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						GGATCCGTAGTGGTGATGTAG	0.517																																																	0								ENSG00000181143						148	148	148					19																	9087836		2158	4260	6418	MUC16	SO:0001583	missense	0			-	HGNC	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.3979A>G	19.37:g.9087836T>C	ENSP00000381008:p.Thr1327Ala	Somatic	0	62	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T1327A	ENST00000397910.4	37	c.3979	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	3.926	-0.017107	0.07681	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.48	-2.96	0.05547	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	.	.	.	B	0.27594	0.182	B	0.21708	0.036	T	0.45760	-0.9239	8	0.87932	D	0	.	2.5182	0.04674	0.4482:0.0:0.2307:0.3211	.	1327	B5ME49	.	A	1327	ENSP00000381008:T1327A	ENSP00000381008:T1327A	T	-	1	0	MUC16	8948836	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-0.433000	0.06948	-1.160000	0.02804	0.254000	0.18369	ACT	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	T	NM_024690	-		9087836	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	C	C	9087836	T	C	9087836	3	2	86	1	0	0	0	0	1	0	0	0	9975	1696	59	5	39880	5	MUC16	19	9087836	Missense_Mutation	SNP	T	TCGA-DX-A7EM-01A-11D-A36J-09		9087836	50041147	81	4918											
CBR3	874	genome.wustl.edu	37	chr21	37518768	37518768	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctccagatgccactgagccAcaaggccagttggtccatga	10	14	0	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr21:37518768A>T	ENST00000290354.5	+	3	1073	c.792A>T	c.(790-792)ccA>ccT	p.P264P	CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	264					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	CCACTGAGCCACAAGGCCAGT	0.498																																																	0								ENSG00000159231						69	68	69					21																	37518768		2203	4300	6503	CBR3	SO:0001819	synonymous_variant	0			-	HGNC	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.792A>T	21.37:g.37518768A>T		Somatic	0	48	0		0.513044603562384	70	12.35	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q6FHP2	Silent	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P264	ENST00000290354.5	37	c.792	CCDS13642.1	21																																																																																			-	NULL		0.498	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3	protein_coding	OTTHUMT00000194632.1	A		-		37518768	1	no_errors	ENST00000290354	ensembl	human	known	74_37	silent	SNP	0.996	T	T	37518768	A	T	37518768	2	4	86	1	0	0	0	0	0	0	0	1	2711	146	6	5		5	CBR3	21	37518768	Silent	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09		37518768	10611127	82	4919											
TTC3	7267	genome.wustl.edu	37	chr21	38461127	38461127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttctgagataaatttgAagaaactacaacatcttgag	8	6	2	4			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr21:38461127A>G	ENST00000399017.2	+	5	3114	c.367A>G	c.(367-369)Aag>Gag	p.K123E	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.K123E|TTC3_ENST00000354749.2_Missense_Mutation_p.K123E|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.K123E	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					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)				GATAAATTTGAAGAAACTACA	0.328																																					Ovarian(38;194 1649 35661)												0								ENSG00000182670						70	69	70					21																	38461127		2203	4300	6503	TTC3	SO:0001583	missense	0			-	HGNC	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.367A>G	21.37:g.38461127A>G	ENSP00000381981:p.Lys123Glu	Somatic	0	84	0		0.513044603562384	27	35.71	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.K123E	ENST00000399017.2	37	c.367	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440676	0.43326	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.53423	2.43;0.62;2.39;2.74;2.74;2.74	4.85	3.7	0.42460	.	0.209144	0.32836	N	0.005598	T	0.39708	0.1088	M	0.61703	1.905	0.80722	D	1	B	0.30741	0.293	B	0.26517	0.07	T	0.28202	-1.0051	10	0.49607	T	0.09	-1.9079	5.6629	0.17678	0.7539:0.0:0.2461:0.0	.	123	P53804	TTC3_HUMAN	E	123	ENSP00000403943:K123E;ENSP00000408456:K123E;ENSP00000391891:K123E;ENSP00000347889:K123E;ENSP00000381981:K123E;ENSP00000346791:K123E	ENSP00000346791:K123E	K	+	1	0	TTC3	37382997	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.650000	0.46665	0.733000	0.32492	0.454000	0.30748	AAG	-	NULL		0.328	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	protein_coding	OTTHUMT00000194776.1	A		-		38461127	1	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38461127	A	G	38461127	3	3	86	1	0	0	0	0	1	0	0	0	16704	247	9	5	381	5	TTC3	21	38461127	Missense_Mutation	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	942359	38461127	9668768	83	4920											
C22orf13	83606	genome.wustl.edu	37	chr22	24940035	24940035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaggtgcgcctggatgtCcttcacactcactgtgctgt	11	13	2	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr22:24940035C>T	ENST00000407471.3	-	5	593	c.403G>A	c.(403-405)Gac>Aac	p.D135N	GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000435822.1_Missense_Mutation_p.D135N|GUCD1_ENST00000404664.3_Missense_Mutation_p.D191N|GUCD1_ENST00000447813.2_Intron	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	135																	GCCTGGATGTCCTTCACACTC	0.627																																																	0								ENSG00000138867						62	52	56					22																	24940035		2203	4300	6503	GUCD1	SO:0001583	missense	0			-	HGNC	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 13"	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.403G>A	22.37:g.24940035C>T	ENSP00000386076:p.Asp135Asn	Somatic	0	35	0		0.513044603562384	118	24.84	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP							pfam_Guanylyl_cyclase	p.D135N	ENST00000407471.3	37	c.403	CCDS33621.1	22	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349921	0.82132	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664	.	.	.	4.89	4.89	0.63831	.	0.168095	0.52532	D	0.000079	T	0.65176	0.2666	M	0.62723	1.935	0.80722	D	1	D;D;P	0.53312	0.959;0.959;0.801	P;P;B	0.50049	0.629;0.629;0.322	T	0.68864	-0.5296	9	0.52906	T	0.07	-43.1115	17.3799	0.87402	0.0:1.0:0.0:0.0	.	191;199;135	B5MCL7;B4DH83;Q96NT3	.;.;CV013_HUMAN	N	135;135;191	.	ENSP00000381297:D135N	D	-	1	0	C22orf13	23270035	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.832000	0.69337	2.411000	0.81874	0.563000	0.77884	GAC	-	pfam_Guanylyl_cyclase		0.627	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GUCD1	protein_coding	OTTHUMT00000319819.1	C	NM_031444	-		24940035	-1	no_errors	ENST00000407471	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24940035	C	T	24940035	3	4	86	1	0	0	0	0	1	0	0	0	2137	855	30	2	327	2	C22orf13	22	24940035	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		24940035	26364531	84	4921											
MN1	4330	genome.wustl.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgctgctgtTgctgctgctgctgctgctgc					rs34890218|rs45480998|rs45597040	byFrequency	TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - coding silent(1)	prostate(1)						ENSG00000169184			226,138,2110		41,6,138,37,58,957						-0.4	1		dbSNP_126	5	429,825,4222		34,24,337,178,445,1720	no	codingComplex	MN1	NM_002430.2		75,30,475,215,503,2677	A1A1,A1A2,A1R,A2A2,A2R,RR		22.8999,14.713,20.3522				655,963,6332				MN1	SO:0001651	inframe_deletion	0				HGNC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598delGCA	22.37:g.28194943_28194945delTGC	ENSP00000304956:p.Gln550del	Somatic	0	51	0		0.513044603562384	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	A9Z1V9	In_Frame_Del	DEL							NULL	p.Q536in_frame_del	ENST00000302326.4	37	c.1598_1596	CCDS42998.1	22																																																																																			-	NULL		0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	protein_coding	OTTHUMT00000320737.1	TGC	NM_002430			28194936	-1	no_errors	ENST00000302326	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.998	-	-	28194936	TGC	-	28194934	7	5	86	1	0	1	0	1	0	0	0	0	9675	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-DX-A7EM-01A-11D-A36J-09	3254899	28194934	23109632	85	4922											
MPST	4357	genome.wustl.edu	37	chr22	37420488	37420488	+	Frame_Shift_Del	DEL	G	G	-													cctacgaccacatgctgcccGgggccgagcatttcgcggag					rs370740546		TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr22:37420488delG	ENST00000397225.2	+	2	1147	c.232delG	c.(232-234)gggfs	p.G78fs	MPST_ENST00000429360.2_Frame_Shift_Del_p.G78fs|MPST_ENST00000404393.1_Frame_Shift_Del_p.G78fs|MPST_ENST00000341116.3_Frame_Shift_Del_p.G78fs|MPST_ENST00000401419.3_Frame_Shift_Del_p.G78fs|MPST_ENST00000397129.1_Frame_Shift_Del_p.G98fs|MPST_ENST00000404802.3_Frame_Shift_Del_p.G78fs			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	78	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CATGCTGCCCGGGGCCGAGCA	0.711																																																	0								ENSG00000128309						10	8	9					22																	37420488		2133	4207	6340	MPST	SO:0001589	frameshift_variant	0				HGNC	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"human liver rhodanese"	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.232delG	22.37:g.37420488delG	ENSP00000380402:p.Gly78fs	Somatic	0	17	0		0.513044603562384	134	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Frame_Shift_Del	DEL							pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.A99fs	ENST00000397225.2	37	c.292	CCDS13939.1	22																																																																																			-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.711	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MPST	protein_coding	OTTHUMT00000318832.1	G	NM_001013440			37420488	1	no_errors	ENST00000397129	ensembl	human	known	74_37	frame_shift_del	DEL	0.004	-	-	37420488	G	-	37420488	7	5	86	1	0	1	0	1	0	0	0	0	9746	1116	39	0	298	0	MPST	22	37420488	Frame_Shift_Del	DEL	G	TCGA-DX-A7EM-01A-11D-A36J-09	9225554	37420488	13884078	86	4923											
SREBF2	6721	genome.wustl.edu	37	chr22	42269822	42269822	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accctggtgggcagcagtggGaccattctgaccacaatgcc	12	13	1	1			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr22:42269822G>T	ENST00000361204.4	+	5	1054	c.888G>T	c.(886-888)ggG>ggT	p.G296G		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	296	Interaction with LMNA. {ECO:0000250}.				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						GCAGCAGTGGGACCATTCTGA	0.527																																																	0								ENSG00000198911						51	38	43					22																	42269822		2203	4300	6503	SREBF2	SO:0001819	synonymous_variant	0			-	HGNC	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.888G>T	22.37:g.42269822G>T		Somatic	0	83	0		0.513044603562384	157	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G296	ENST00000361204.4	37	c.888	CCDS14023.1	22																																																																																			-	NULL		0.527	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	protein_coding	OTTHUMT00000321956.1	G	NM_004599	-		42269822	1	no_errors	ENST00000361204	ensembl	human	known	74_37	silent	SNP	0.999	T	T	42269822	G	T	42269822	2	4	86	1	0	0	0	0	0	0	0	1	15149	1161	41	3		3	SREBF2	22	42269822	Silent	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	4849334	42269822	9034744	87	4924											
C22orf9	23313	genome.wustl.edu	37	chr22	45607985	45607985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgcggtcatccttgaagCaccctgcagagggaggccag	14	12	1	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chr22:45607985C>T	ENST00000336156.5	-	2	133	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	KIAA0930_ENST00000251993.7_Missense_Mutation_p.C28Y|KIAA0930_ENST00000443310.3_Missense_Mutation_p.C5Y|KIAA0930_ENST00000391627.2_5'UTR|KIAA0930_ENST00000492273.1_Missense_Mutation_p.C28Y|KIAA0930_ENST00000496226.1_Missense_Mutation_p.C32Y	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	23										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ATCCTTGAAGCACCCTGCAGA	0.592																																																	0								ENSG00000100364						52	49	50					22																	45607985		2202	4300	6502	KIAA0930	SO:0001583	missense	0			-	HGNC	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.68G>A	22.37:g.45607985C>T	ENSP00000336720:p.Cys23Tyr	Somatic	0	66	0		0.513044603562384	74	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP							pfam_DUF2045	p.C28Y	ENST00000336156.5	37	c.83	CCDS33665.1	22	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325235	0.81580	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000443310;ENST00000424508	.	.	.	5.33	4.3	0.51218	.	0.094831	0.85682	D	0.000000	T	0.49389	0.1554	L	0.29908	0.895	0.54753	D	0.999989	B;B;B;B	0.30439	0.047;0.183;0.279;0.112	B;B;B;B	0.33521	0.017;0.039;0.165;0.08	T	0.52786	-0.8529	9	0.66056	D	0.02	-20.0673	15.2406	0.73468	0.1417:0.8583:0.0:0.0	.	5;23;28;94	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	Y	23;28;5;5	.	ENSP00000251993:C28Y	C	-	2	0	KIAA0930	43986649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.467000	0.53078	1.228000	0.43614	0.561000	0.74099	TGC	-	NULL		0.592	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	protein_coding	OTTHUMT00000321975.2	C	NM_001009880	-		45607985	-1	no_errors	ENST00000251993	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45607985	C	T	45607985	3	4	86	1	0	0	0	0	1	0	0	0	2153	710	25	2	1182	2	C22orf9	22	45607985	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	3338163	45607985	5696581	88	4925											
GPR34	2857	genome.wustl.edu	37	chrX	41555919	41555919	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccaacttctttttagaCgatttcaaggtgaaccaagt	8	8	2	2			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chrX:41555919C>T	ENST00000378142.4	+	3	1317	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Nonsense_Mutation_p.R345*|CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	345					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(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TCTTTTTAGACGATTTCAAGG	0.393																																																	0								ENSG00000171659						82	70	74					X																	41555919		2203	4300	6503	GPR34	SO:0001587	stop_gained	0			-	HGNC	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.1033C>T	X.37:g.41555919C>T	ENSP00000367384:p.Arg345*	Somatic	0	28	0		0.513044603562384	57	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	3	90.32	O95853	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R345*	ENST00000378142.4	37	c.1033	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.320000	0.95682	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	.	.	.	5.83	0.889	0.19212	.	0.173984	0.36854	N	0.002369	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7513	11.9899	0.53169	0.5419:0.3766:0.0815:0.0	.	.	.	.	X	345;345;298	.	ENSP00000367378:R345X	R	+	1	2	GPR34	41440863	0.954000	0.32549	0.992000	0.48379	0.990000	0.78478	0.083000	0.14871	0.097000	0.17492	0.591000	0.81541	CGA	-	NULL		0.393	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	protein_coding	OTTHUMT00000056264.1	C	NM_005300	-		41555919	1	no_errors	ENST00000378138	ensembl	human	known	74_37	nonsense	SNP	0.933	T	T	41555919	C	T	41555919	4	4	86	1	0	0	0	0	0	1	0	0	6691	528	19	1	1035	1	GPR34	23	41555919	Nonsense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09		41555919	113714641	89	4926											
DIAPH2	1730	genome.wustl.edu	37	chrX	96197015	96197015	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtactttctctccttttcAggccacaatattataaaata	4	9	2	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chrX:96197015A>G	ENST00000324765.8	+	13	1672		c.e13-1		DIAPH2_ENST00000373049.4_Splice_Site|DIAPH2_ENST00000373054.4_Splice_Site|DIAPH2_ENST00000355827.4_Splice_Site|DIAPH2_ENST00000373061.3_Splice_Site			O60879	DIAP2_HUMAN	diaphanous-related formin 2						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)			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						TCTCCTTTTCAGGCCACAATA	0.353																																																	0								ENSG00000147202						101	98	99					X																	96197015		2203	4300	6503	DIAPH2	SO:0001630	splice_region_variant	0			-	HGNC	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.1326-1A>G	X.37:g.96197015A>G		Somatic	0	49	0		0.513044603562384	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Splice_Site	SNP							-	e13-2	ENST00000324765.8	37	c.1326-2	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758575	0.31137	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5657	0.68173	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIAPH2	96083671	1.000000	0.71417	0.948000	0.38648	0.023000	0.10783	8.742000	0.91588	1.900000	0.55004	0.481000	0.45027	.	-	-		0.353	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	protein_coding	OTTHUMT00000058871.2	A	NM_006729, NM_007309	-	Intron	96197015	1	no_errors	ENST00000324765	ensembl	human	known	74_37	splice_site	SNP	0.998	G	G	96197015	A	G	96197015	5	3	86	1	0	0	0	0	0	0	1	0	4521	202	7	5	1374	5	DIAPH2	23	96197015	Splice_Site	SNP	A	TCGA-DX-A7EM-01A-11D-A36J-09	54641096	96197015	59073545	90	4927											
KIAA1210	57481	genome.wustl.edu	37	chrX	118215393	118215393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgggttctggaacttggCtgggagagttgaagatcgtt	15	5	1	3			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chrX:118215393C>T	ENST00000402510.2	-	14	5028	c.5029G>A	c.(5029-5031)Gcc>Acc	p.A1677T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1677										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGAACTTGGCTGGGAGAGTT	0.468																																																	0								ENSG00000250423						168	154	158					X																	118215393		1897	4102	5999	KIAA1210	SO:0001583	missense	0			-	HGNC	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.5029G>A	X.37:g.118215393C>T	ENSP00000384670:p.Ala1677Thr	Somatic	0	60	0		0.513044603562384	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B7ZCI8|Q5JPN4	Missense_Mutation	SNP							NULL	p.A1677T	ENST00000402510.2	37	c.5029	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.877029|2.877029	0.51801|0.51801	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.10668|.	2.85|.	5.12|5.12	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.46947|0.46947	1.48|1.48	0.09310|0.09310	N|N	1|1	B|.	0.32573|.	0.376|.	B|.	0.33392|.	0.163|.	T|T	0.30504|0.30504	-0.9976|-0.9976	9|5	0.27785|.	T|.	0.31|.	.|.	1.924|1.924	0.03313|0.03313	0.1279:0.3205:0.1287:0.4229|0.1279:0.3205:0.1287:0.4229	.|.	1677|.	Q9ULL0|.	K1210_HUMAN|.	T|N	1677|1083	ENSP00000384670:A1677T|.	ENSP00000384670:A1677T|.	A|S	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118099421|118099421	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-0.427000|-0.427000	0.06999|0.06999	-0.912000|-0.912000	0.03837|0.03837	-1.130000|-1.130000	0.01982|0.01982	GCC|AGC	-	NULL		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	protein_coding	OTTHUMT00000371251.2	C	NM_020721	-		118215393	-1	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	SNP	0.000	T	T	118215393	C	T	118215393	3	4	86	1	0	0	0	0	1	0	0	0	8216	797	28	2	104	2	KIAA1210	23	118215393	Missense_Mutation	SNP	C	TCGA-DX-A7EM-01A-11D-A36J-09	22018378	118215393	37055167	91	4928											
ZNF185	7739	genome.wustl.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																																	0								ENSG00000147394		,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				ZNF185	SO:0001651	inframe_deletion	0				HGNC	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del	Somatic	0	33	0		0.513044603562384	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL							smart_Znf_LIM,pfscan_Znf_LIM	p.E162in_frame_del	ENST00000370268.4	37	c.475_477	CCDS48184.1	X																																																																																			-	NULL		0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	protein_coding	OTTHUMT00000377480.1	GAG	NM_007150			152087572	1	no_errors	ENST00000370270	ensembl	human	known	74_37	in_frame_del	DEL	0.026:0.052:0.078	-	-	152087572	GAG	-	152087570	7	5	86	1	0	1	0	1	0	0	0	0	17759	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-DX-A7EM-01A-11D-A36J-09	33872177	152087570	3182990	92	4929											
TKTL1	8277	genome.wustl.edu	37	chrX	153537746	153537746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atggctcggacaaggactggGagttgcatgtggaatggcat	16	6	0	0			TCGA-DX-A7EM-01A-11D-A36J-09	TCGA-DX-A7EM-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de108904-cf45-4b19-9a45-e00f2a196711	da54443c-60f6-47cc-972a-f0a18afcf190	g.chrX:153537746G>T	ENST00000369915.3	+	3	491	c.302G>T	c.(301-303)gGa>gTa	p.G101V	TKTL1_ENST00000369912.2_Missense_Mutation_p.G45V|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	101					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)			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)					CAAGGACTGGGAGTTGCATGT	0.532																																																	0								ENSG00000007350						329	278	296					X																	153537746		2203	4300	6503	TKTL1	SO:0001583	missense	0			-	HGNC	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.302G>T	X.37:g.153537746G>T	ENSP00000358931:p.Gly101Val	Somatic	0	47	0		0.513044603562384	0	100	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	5	83.33	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP							pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.G101V	ENST00000369915.3	37	c.302	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152625	0.57259	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912	T;T;T	0.30981	1.51;1.51;1.51	4.88	4.88	0.63580	Transketolase, N-terminal (1);	0.055419	0.64402	D	0.000001	T	0.63153	0.2487	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71189	-0.4666	10	0.59425	D	0.04	-25.6937	16.0378	0.80642	0.0:0.0:1.0:0.0	.	95;101	B7Z7I0;P51854	.;TKTL1_HUMAN	V	101;45;101;45	ENSP00000358931:G101V;ENSP00000401111:G101V;ENSP00000358928:G45V	ENSP00000358928:G45V	G	+	2	0	TKTL1	153190940	1.000000	0.71417	0.842000	0.33263	0.027000	0.11550	9.275000	0.95738	2.391000	0.81399	0.600000	0.82982	GGA	-	pfam_Transketolase_N,pfam_DH_E1		0.532	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	protein_coding	OTTHUMT00000058923.1	G	NM_012253	-		153537746	1	no_errors	ENST00000369915	ensembl	human	known	74_37	missense	SNP	0.998	T	T	153537746	G	T	153537746	3	4	86	1	0	0	0	0	1	0	0	0	15942	1174	41	3	312	3	TKTL1	23	153537746	Missense_Mutation	SNP	G	TCGA-DX-A7EM-01A-11D-A36J-09	1450176	153537746	1732814	93	4930											
TTN	7273	genome.wustl.edu	37	chr2	179399581	179399581	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgcttcacagacctggtGaacataacttacaatttctc	6	10	2	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr2:179399581G>T	ENST00000591111.1	-	308	97062	c.96838C>A	c.(96838-96840)Cac>Aac	p.H32280N	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H31353N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H24981N|TTN_ENST00000460472.2_Missense_Mutation_p.H24856N|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H25048N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H33921N			Q8WZ42	TITIN_HUMAN	titin	32280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CAGACCTGGTGAACATAACTT	0.333																																																	0								ENSG00000155657						73	73	73					2																	179399581		1861	4107	5968	TTN	SO:0001583	missense	0			-	HGNC	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.96838C>A	2.37:g.179399581G>T	ENSP00000465570:p.His32280Asn	Somatic	0	58	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H31353N	ENST00000591111.1	37	c.94057		2	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053705	0.19907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41858	0.1177	L	0.37630	1.12	0.26276	N	0.978353	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.19148	0.012;0.012;0.024;0.024	T	0.38200	-0.9672	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	24856;24981;25048;32280	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	31353;24856;25048;24981;24853	ENSP00000343764:H31353N;ENSP00000434586:H24856N;ENSP00000340554:H25048N;ENSP00000352154:H24981N	ENSP00000340554:H25048N	H	-	1	0	TTN	179107827	1.000000	0.71417	0.990000	0.47175	0.831000	0.47069	4.859000	0.62954	2.857000	0.98124	0.650000	0.86243	CAC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179399581	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.995	T	T	179399581	G	T	179399581	3	4	87	1	0	0	0	0	1	0	0	0	16742	1290	45	3	6238	3	TTN	2	179399581	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		179399581	63799792	1	4931											
RAPH1	65059	genome.wustl.edu	37	chr2	204313494	204313494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccattgacccactgatgCagtgtcctcacatcatcaca	5	15	3	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr2:204313494C>T	ENST00000319170.5	-	11	1778	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	RAPH1_ENST00000453034.1_Silent_p.L545L|RAPH1_ENST00000374488.2_Silent_p.L518L|RAPH1_ENST00000418114.1_Silent_p.L493L|RAPH1_ENST00000374489.2_Silent_p.L520L|RAPH1_ENST00000374493.3_Silent_p.L545L|RAPH1_ENST00000457812.1_Silent_p.L493L|RAPH1_ENST00000308091.4_Silent_p.L545L|RAPH1_ENST00000423104.1_Silent_p.L520L|RAPH1_ENST00000419464.1_Silent_p.L493L|RAPH1_ENST00000439222.1_Silent_p.L518L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	493	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCACTGATGCAGTGTCCTCA	0.383																																																	0								ENSG00000173166						175	157	163					2																	204313494		2203	4300	6503	RAPH1	SO:0001819	synonymous_variant	0			-	HGNC	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1479G>A	2.37:g.204313494C>T		Somatic	0	92	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q96Q37|Q9C0I2	Silent	SNP							pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.L545	ENST00000319170.5	37	c.1635	CCDS2359.1	2																																																																																			-	pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	protein_coding	OTTHUMT00000256363.2	C	NM_025252	-		204313494	-1	no_errors	ENST00000374493	ensembl	human	known	74_37	silent	SNP	0.997	T	T	204313494	C	T	204313494	2	4	87	1	0	0	0	0	0	0	0	1	13058	697	25	2		2	RAPH1	2	204313494	Silent	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09	24913913	204313494	38885879	2	4932											
CHL1	10752	genome.wustl.edu	37	chr3	403486	403486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttcacctgaggcagtcGtgtcctggtaagccggtggc	14	11	1	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr3:403486G>A	ENST00000256509.2	+	13	2053	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.V455M|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					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)	p.V471M(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAGGCAGTCGTGTCCTGGTA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000134121						176	161	166					3																	403486		2203	4300	6503	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1411G>A	3.37:g.403486G>A	ENSP00000256509:p.Val471Met	Somatic	0	82	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	35	52.70	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V471M	ENST00000256509.2	37	c.1411	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109991	0.56398	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.76968	-1.06;-1.06	5.06	3.93	0.45458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234344	0.37219	N	0.002188	D	0.88028	0.6327	M	0.88241	2.94	0.40075	D	0.976063	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.76071	0.987;0.987;0.918	D	0.89456	0.3733	10	0.87932	D	0	.	10.1345	0.42697	0.1355:0.0:0.8645:0.0	.	455;455;471	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	M	471;455	ENSP00000256509:V471M;ENSP00000380628:V455M	ENSP00000256509:V471M	V	+	1	0	CHL1	378486	0.944000	0.32072	0.941000	0.38009	0.691000	0.40173	2.202000	0.42743	2.490000	0.84030	0.563000	0.77884	GTG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.438	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	G	NM_006614	-		403486	1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	0.627	A	A	403486	G	A	403486	3	1	87	1	0	0	0	0	1	0	0	0	3351	1145	40	1	1453	1	CHL1	3	403486	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		403486	197618944	3	4933											
MCF2L2	23101	genome.wustl.edu	37	chr3	182994710	182994710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgctccagctcagggttCcccctttcatgatggctttc	9	14	2	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr3:182994710C>T	ENST00000328913.3	-	15	2109	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	MCF2L2_ENST00000473233.1_Silent_p.G604G|MCF2L2_ENST00000447025.2_Silent_p.G604G|MCF2L2_ENST00000414362.2_Silent_p.G604G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	604							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTCAGGGTTCCCCCTTTCAT	0.517																																																	0								ENSG00000053524						29	28	28					3																	182994710		2203	4300	6503	MCF2L2	SO:0001819	synonymous_variant	0			-	HGNC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1812G>A	3.37:g.182994710C>T		Somatic	0	135	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	66	41.07	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G604	ENST00000328913.3	37	c.1812	CCDS3243.1	3																																																																																			-	NULL		0.517	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	protein_coding	OTTHUMT00000350868.1	C	NM_015078	-		182994710	-1	no_errors	ENST00000328913	ensembl	human	known	74_37	silent	SNP	0.000	T	T	182994710	C	T	182994710	2	4	87	1	0	0	0	0	0	0	0	1	9382	842	30	2		2	MCF2L2	3	182994710	Silent	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09	182591224	182994710	15027720	4	4934											
DNAH5	1767	genome.wustl.edu	37	chr5	13911598	13911598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttatggttgccacaAtgccctgaaatattatgaga	7	7	1	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr5:13911598A>G	ENST00000265104.4	-	12	1645	c.1541T>C	c.(1540-1542)aTt>aCt	p.I514T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	514	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)					GGTTGCCACAATGCCCTGAAA	0.318									Kartagener syndrome																																								0								ENSG00000039139						93	93	93					5																	13911598		2202	4300	6502	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.1541T>C	5.37:g.13911598A>G	ENSP00000265104:p.Ile514Thr	Somatic	0	111	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	135	45	75.00	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I514T	ENST00000265104.4	37	c.1541	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582887	0.46006	.	.	ENSG00000039139	ENST00000265104	T	0.56611	0.45	5.6	5.6	0.85130	Dynein heavy chain, domain-1 (1);	0.161531	0.53938	D	0.000051	T	0.52741	0.1753	M	0.66439	2.03	0.48135	D	0.999599	B	0.12630	0.006	B	0.27715	0.082	T	0.54377	-0.8303	10	0.59425	D	0.04	.	10.4439	0.44481	0.9271:0.0:0.0729:0.0	.	514	Q8TE73	DYH5_HUMAN	T	514	ENSP00000265104:I514T	ENSP00000265104:I514T	I	-	2	0	DNAH5	13964598	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.608000	0.74168	2.264000	0.75181	0.533000	0.62120	ATT	-	pfam_Dynein_heavy_dom-1		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	A	NM_001369	-		13911598	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	G	G	13911598	A	G	13911598	3	3	87	1	0	0	0	0	1	0	0	0	4606	101	4	5	12605	5	DNAH5	5	13911598	Missense_Mutation	SNP	A	TCGA-DX-A7EN-01A-11D-A38Z-09		13911598	167003662	5	4935											
CENPH	64946	genome.wustl.edu	37	chr5	68490472	68490472	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaattatttatttgcAggtgaagaaaaaactccaga	6	5	1	3			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr5:68490472A>C	ENST00000283006.2	+	3	277		c.e3-1		CENPH_ENST00000515001.1_Splice_Site	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATTTATTTGCAGGTGAAGAAA	0.284																																																	0								ENSG00000153044						37	42	40					5																	68490472		2197	4298	6495	CENPH	SO:0001630	splice_region_variant	0			-	HGNC	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.191-1A>C	5.37:g.68490472A>C		Somatic	0	142	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	66	48.44		Splice_Site	SNP							-	e3-2	ENST00000283006.2	37	c.191-2	CCDS3998.1	5	.	.	.	.	.	.	.	.	.	.	A	11.86	1.763656	0.31228	.	.	ENSG00000153044	ENST00000283006;ENST00000515001;ENST00000502689	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1177	0.48270	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPH	68526228	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.152000	0.58111	2.194000	0.70268	0.482000	0.46254	.	-	-		0.284	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	protein_coding	OTTHUMT00000215083.1	A		-	Intron	68490472	1	no_errors	ENST00000283006	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	68490472	A	C	68490472	5	2	87	1	0	0	0	0	0	0	1	0	3234	202	7	5	199	5	CENPH	5	68490472	Splice_Site	SNP	A	TCGA-DX-A7EN-01A-11D-A38Z-09	54578874	68490472	112424788	6	4936											
OR2J3	442186	genome.wustl.edu	37	chr6	29080103	29080103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccctcgtttctgccacCtgctggctgtggcttcttgg	11	14	2	0			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr6:29080103C>G	ENST00000377169.1	+	1	436	c.436C>G	c.(436-438)Ctg>Gtg	p.L146V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCTGCCACCTGCTGGCTGT	0.512																																																	0								ENSG00000204701						350	373	365					6																	29080103		1385	2625	4010	OR2J3	SO:0001583	missense	0			-	HGNC		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.436C>G	6.37:g.29080103C>G	ENSP00000366374:p.Leu146Val	Somatic	0	54	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L146V	ENST00000377169.1	37	c.436	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143811	0.06627	.	.	ENSG00000204701	ENST00000377169	T	0.00069	8.77	2.78	-3.44	0.04796	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.55103	1.725	0.09310	N	1	B	0.17852	0.024	B	0.29077	0.098	T	0.34354	-0.9832	9	0.17369	T	0.5	.	0.4174	0.00451	0.2991:0.3116:0.1473:0.2419	.	146	O76001	OR2J3_HUMAN	V	146	ENSP00000366374:L146V	ENSP00000366374:L146V	L	+	1	2	OR2J3	29188082	0.000000	0.05858	0.008000	0.14137	0.914000	0.54420	-1.425000	0.02446	-1.066000	0.03164	0.436000	0.28706	CTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	protein_coding	OTTHUMT00000076132.2	C		-		29080103	1	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	SNP	0.000	G	G	29080103	C	G	29080103	3	3	87	1	0	0	0	0	1	0	0	0	11006	680	24	4	438	4	OR2J3	6	29080103	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09		29080103	142034964	7	4937											
KCNV1	27012	genome.wustl.edu	37	chr8	110984849	110984849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgacgccaaagataCgggcagctgtggaagatcca	14	8	0	4			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr8:110984849C>T	ENST00000524391.1	-	3	1661	c.629G>A	c.(628-630)cGt>cAt	p.R210H	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R210H			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	210					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCAAAGATACGGGCAGCTGT	0.517																																																	0								ENSG00000164794						93	87	89					8																	110984849		2203	4300	6503	KCNV1	SO:0001583	missense	0			-	HGNC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.629G>A	8.37:g.110984849C>T	ENSP00000435954:p.Arg210His	Somatic	0	65	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q9UHJ4	Missense_Mutation	SNP							pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R210H	ENST00000524391.1	37	c.629	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314042	0.81358	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97642	-4.47;-4.47	5.35	5.35	0.76521	.	0.125508	0.47852	D	0.000210	D	0.97374	0.9141	M	0.82923	2.615	0.40274	D	0.97832	D	0.65815	0.995	P	0.51833	0.681	D	0.97730	1.0202	10	0.72032	D	0.01	.	11.5104	0.50490	0.0:0.9183:0.0:0.0817	.	210	Q6PIU1	KCNV1_HUMAN	H	210;210;86	ENSP00000435954:R210H;ENSP00000297404:R210H	ENSP00000297404:R210H	R	-	2	0	KCNV1	111054025	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.552000	0.53705	2.499000	0.84300	0.557000	0.71058	CGT	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv4		0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	protein_coding	OTTHUMT00000385525.1	C	NM_014379	-		110984849	-1	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110984849	C	T	110984849	3	4	87	1	0	0	0	0	1	0	0	0	8096	536	19	1	881	1	KCNV1	8	110984849	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09		110984849	35379173	8	4938											
GOLM1	51280	genome.wustl.edu	37	chr9	88650294	88650294	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacacccaccttccccggcaGcttcctgctcctcctcctgt	5	22	0	0			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr9:88650294G>C	ENST00000388712.3	-	8	1172	c.1004C>G	c.(1003-1005)gCt>gGt	p.A335G	GOLM1_ENST00000388711.3_Missense_Mutation_p.A335G|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TTCCCCGGCAGCTTCCTGCTC	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000135052						56	64	62					9																	88650294		2203	4300	6503	GOLM1	SO:0001583	missense	0			-	HGNC	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1004C>G	9.37:g.88650294G>C	ENSP00000373364:p.Ala335Gly	Somatic	0	58	0	1261	0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	43.64	Q6IAF4|Q9NRB9	Missense_Mutation	SNP							NULL	p.A335G	ENST00000388712.3	37	c.1004	CCDS35054.1	9	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218386	0.39201	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.47869	0.83;0.83	4.13	2.11	0.27256	.	1.256360	0.05284	N	0.519803	T	0.40067	0.1102	L	0.50333	1.59	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22765	-1.0207	10	0.21540	T	0.41	-5.916	5.3166	0.15858	0.1137:0.2076:0.6787:0.0	.	335	Q8NBJ4	GOLM1_HUMAN	G	335	ENSP00000373364:A335G;ENSP00000373363:A335G	ENSP00000373363:A335G	A	-	2	0	GOLM1	87840114	0.003000	0.15002	0.003000	0.11579	0.298000	0.27526	1.304000	0.33482	1.105000	0.41606	0.456000	0.33151	GCT	-	NULL		0.622	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	protein_coding	OTTHUMT00000052904.2	G	NM_177937	-		88650294	-1	no_errors	ENST00000388711	ensembl	human	known	74_37	missense	SNP	0.001	C	C	88650294	G	C	88650294	3	2	87	1	0	0	0	0	1	0	0	0	6569	971	34	4	213	4	GOLM1	9	88650294	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		88650294	52563137	9	4939											
CEL	1056	genome.wustl.edu	37	chr9	135946015	135946015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagtctctaaggccatgaTcgcctactggaccaactttg	9	12	1	1	rs77696629	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr9:135946015T>C	ENST00000372080.4	+	10	1479	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	485					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AAGGCCATGATCGCCTACTGG	0.612																																																	0								ENSG00000170835						76	86	83					9																	135946015		2018	4177	6195	CEL	SO:0001583	missense	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1463T>C	9.37:g.135946015T>C	ENSP00000361151:p.Ile488Thr	Somatic	0	45	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.I488T	ENST00000372080.4	37	c.1463	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234627	0.79800	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.68025	-0.3	5.72	4.57	0.56435	Carboxylesterase, type B (1);	0.094910	0.64402	D	0.000001	T	0.72993	0.3530	L	0.38175	1.15	0.80722	D	1	D	0.54047	0.964	D	0.75020	0.985	T	0.74463	-0.3657	10	0.87932	D	0	.	11.5416	0.50669	0.134:0.0:0.0:0.866	.	485	P19835	CEL_HUMAN	T	488;487	ENSP00000361151:I488T	ENSP00000304021:I487T	I	+	2	0	CEL	134935836	1.000000	0.71417	0.959000	0.39883	0.951000	0.60555	7.622000	0.83099	0.976000	0.38417	0.391000	0.25812	ATC	-	pfam_CarbesteraseB		0.612	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	T		rs77696629		135946015	1	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135946015	T	C	135946015	3	2	87	1	0	0	0	0	1	0	0	0	3211	1435	50	5	1501	5	CEL	9	135946015	Missense_Mutation	SNP	T	TCGA-DX-A7EN-01A-11D-A38Z-09	47295721	135946015	5267416	10	4940											
SEC61A2	55176	genome.wustl.edu	37	chr10	12203044	12203044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtccatgtcgttgtttAtatcatcttcatgttggggt	9	8	3	0			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr10:12203044A>G	ENST00000298428.9	+	10	1180	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.Y364C|SEC61A2_ENST00000379020.4_Missense_Mutation_p.Y298C|SEC61A2_ENST00000379033.3_Missense_Mutation_p.Y342C	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	364					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GTCGTTGTTTATATCATCTTC	0.443																																																	0								ENSG00000065665						224	174	191					10																	12203044		2203	4300	6503	SEC61A2	SO:0001583	missense	0			-	HGNC	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1091A>G	10.37:g.12203044A>G	ENSP00000298428:p.Tyr364Cys	Somatic	0	48	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	0	100.00	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP							pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.Y364C	ENST00000298428.9	37	c.1091	CCDS7088.1	10	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043108	0.75732	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560	.	.	.	5.54	5.54	0.83059	SecY subunit domain (2);	0.000000	0.64402	D	0.000011	D	0.90314	0.6970	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.999	D	0.93886	0.7175	9	0.87932	D	0	-8.1598	15.1606	0.72782	1.0:0.0:0.0:0.0	.	342;364;364	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	C	342;364;364;298;112	.	ENSP00000298428:Y364C	Y	+	2	0	SEC61A2	12243050	1.000000	0.71417	0.983000	0.44433	0.753000	0.42808	9.287000	0.95975	2.230000	0.72887	0.528000	0.53228	TAT	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha		0.443	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	protein_coding	OTTHUMT00000046795.1	A	NM_018144	-		12203044	1	no_errors	ENST00000298428	ensembl	human	known	74_37	missense	SNP	1.000	G	G	12203044	A	G	12203044	3	3	87	1	0	0	0	0	1	0	0	0	14009	449	16	5	1129	5	SEC61A2	10	12203044	Missense_Mutation	SNP	A	TCGA-DX-A7EN-01A-11D-A38Z-09		12203044	123331703	11	4941											
OR5B3	441608	genome.wustl.edu	37	chr11	58170846	58170846	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgagtcattggttagtcctaGaagaatgaattgtgttactt	10	4	1	4			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr11:58170846G>C	ENST00000309403.2	-	1	36	c.37C>G	c.(37-39)Cta>Gta	p.L13V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTTAGTCCTAGAAGAATGAAT	0.383																																																	0								ENSG00000172769						120	117	118					11																	58170846		2199	4285	6484	OR5B3	SO:0001583	missense	0			-	HGNC	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.37C>G	11.37:g.58170846G>C	ENSP00000308270:p.Leu13Val	Somatic	0	53	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	Q6IEV6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L13V	ENST00000309403.2	37	c.37	CCDS31549.1	11	.	.	.	.	.	.	.	.	.	.	g	1.884	-0.457218	0.04540	.	.	ENSG00000172769	ENST00000309403	T	0.00631	6.09	4.05	1.9	0.25705	.	0.000000	0.34067	N	0.004298	T	0.00695	0.0023	L	0.35723	1.085	0.09310	N	1	B	0.16802	0.019	B	0.19666	0.026	T	0.46289	-0.9202	10	0.17832	T	0.49	-4.3513	12.9589	0.58447	0.0:0.305:0.695:0.0	.	13	Q8NH48	OR5B3_HUMAN	V	13	ENSP00000308270:L13V	ENSP00000308270:L13V	L	-	1	2	OR5B3	57927422	0.000000	0.05858	0.243000	0.24186	0.496000	0.33645	-1.406000	0.02490	1.014000	0.39417	0.484000	0.47621	CTA	-	NULL		0.383	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	protein_coding	OTTHUMT00000394886.1	G	NM_001005469	-		58170846	-1	no_errors	ENST00000309403	ensembl	human	known	74_37	missense	SNP	0.029	C	C	58170846	G	C	58170846	3	2	87	1	0	0	0	0	1	0	0	0	11154	933	33	4	909	4	OR5B3	11	58170846	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		58170846	76835670	12	4942											
ME3	10873	genome.wustl.edu	37	chr11	86209110	86209110	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacagggatgcccatgccGtagcagcccaggtctcccag	11	17	1	0	rs35059554	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr11:86209110G>T	ENST00000393324.3	-	5	853	c.600C>A	c.(598-600)taC>taA	p.Y200*	ME3_ENST00000323418.6_Nonsense_Mutation_p.Y138*|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Nonsense_Mutation_p.Y200*|ME3_ENST00000359636.2_Nonsense_Mutation_p.Y200*|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	200					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TGCCCATGCCGTAGCAGCCCA	0.642																																																	0								ENSG00000151376						101	89	93					11																	86209110		2202	4299	6501	ME3	SO:0001587	stop_gained	0			-	HGNC	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.600C>A	11.37:g.86209110G>T	ENSP00000376998:p.Tyr200*	Somatic	0	21	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B7Z6V0|Q8TBJ0	Nonsense_Mutation	SNP							pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.Y200*	ENST00000393324.3	37	c.600	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.850721	0.98525	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	.	.	.	5.47	-6.24	0.02046	.	0.173767	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2439	0.73490	0.5233:0.0:0.4767:0.0	.	.	.	.	X	200;200;200;200;138;138	.	.	Y	-	3	2	ME3	85886758	0.000000	0.05858	0.782000	0.31804	0.960000	0.62799	-4.102000	0.00295	-1.202000	0.02655	-0.794000	0.03295	TAC	-	pfam_Malic_N,prints_Malic_OxRdtase		0.642	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	protein_coding	OTTHUMT00000393767.2	G		-		86209110	-1	no_errors	ENST00000359636	ensembl	human	known	74_37	nonsense	SNP	0.502	T	T	86209110	G	T	86209110	4	4	87	1	0	0	0	0	0	1	0	0	9421	1140	40	3	1254	3	ME3	11	86209110	Nonsense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09	28038264	86209110	48797406	13	4943											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103173848	103173848	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagaggtgtccccactgcctCtaaatctcaaacgtttatac	6	12	2	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr11:103173848C>G	ENST00000375735.2	+	76	11266	c.11122C>G	c.(11122-11124)Cta>Gta	p.L3708V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3715V|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	3708	AAA 6. {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)		CCCACTGCCTCTAAATCTCAA	0.308																																																	0								ENSG00000187240						53	47	49					11																	103173848		1800	4068	5868	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.11122C>G	11.37:g.103173848C>G	ENSP00000364887:p.Leu3708Val	Somatic	0	153	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	82	45.70	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3715V	ENST00000375735.2	37	c.11143	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746803	0.30955	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.09445	2.98;2.98	5.35	3.49	0.39957	Dynein heavy chain (1);	0.172959	0.39615	N	0.001303	T	0.15305	0.0369	M	0.69823	2.125	0.53688	D	0.999975	B;B	0.20164	0.042;0.034	B;B	0.28385	0.089;0.079	T	0.02464	-1.1155	10	0.32370	T	0.25	.	11.7772	0.51993	0.0:0.857:0.0:0.143	.	3708;3715	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	3708;3715	ENSP00000364887:L3708V;ENSP00000381167:L3715V	ENSP00000364887:L3708V	L	+	1	2	DYNC2H1	102679058	0.998000	0.40836	0.999000	0.59377	0.938000	0.57974	0.655000	0.24933	0.655000	0.30866	-0.136000	0.14681	CTA	-	pfam_Dynein_heavy_dom		0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	C	XM_370652	-		103173848	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	G	G	103173848	C	G	103173848	3	3	87	1	0	0	0	0	1	0	0	0	4848	912	32	4	11449	4	DYNC2H1	11	103173848	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09	16964738	103173848	31832668	14	4944											
WNK1	65125	genome.wustl.edu	37	chr12	994968	994968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctctgttcagtgaacaCagctcatctggagctcagca	10	12	5	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:994968C>T	ENST00000315939.6	+	19	5641	c.4998C>T	c.(4996-4998)caC>caT	p.H1666H	WNK1_ENST00000535572.1_Silent_p.H1419H|WNK1_ENST00000530271.2_Silent_p.H2164H|WNK1_ENST00000537687.1_Silent_p.H1926H|WNK1_ENST00000340908.4_Silent_p.H1259H	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1666					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)			TCAGTGAACACAGCTCATCTG	0.478																																					Colon(19;451 567 6672 12618 28860)												0								ENSG00000060237						92	84	86					12																	994968		2203	4300	6503	WNK1	SO:0001819	synonymous_variant	0			-	HGNC	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.4998C>T	12.37:g.994968C>T		Somatic	0	34	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H2164	ENST00000315939.6	37	c.6492	CCDS8506.1	12																																																																																			-	NULL		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	C	NM_018979	-		994968	1	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	SNP	0.097	T	T	994968	C	T	994968	2	4	87	1	0	0	0	0	0	0	0	1	17384	477	17	2		2	WNK1	12	994968	Silent	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09		994968	132856927	15	4945											
DYRK4	8798	genome.wustl.edu	37	chr12	4708298	4708298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtgcttgcagatgctttCggtagagaaaatcattcact	10	7	2	2	rs371159844		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:4708298C>T	ENST00000540757.2	+	7	825	c.665C>T	c.(664-666)tCg>tTg	p.S222L	DYRK4_ENST00000010132.5_Missense_Mutation_p.S222L|DYRK4_ENST00000543431.1_Missense_Mutation_p.S222L	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	222	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)			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)			CAGATGCTTTCGGTAGAGAAA	0.463																																																	0								ENSG00000010219	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	139	127	131		665	4.2	0.9	12		131	0,8600		0,0,4300	no	missense	DYRK4	NM_003845.1	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	222/521	4708298	1,13005	2203	4300	6503	DYRK4	SO:0001583	missense	0			-	HGNC	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.665C>T	12.37:g.4708298C>T	ENSP00000441755:p.Ser222Leu	Somatic	0	72	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	12	72.09	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S222L	ENST00000540757.2	37	c.665	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305885	0.23736	2.27E-4	0.0	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.29	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.186823	0.47093	D	0.000242	T	0.43765	0.1262	N	0.21373	0.66	0.80722	D	1	B;B;B	0.31351	0.114;0.32;0.008	B;B;B	0.29524	0.024;0.103;0.046	T	0.36114	-0.9761	10	0.51188	T	0.08	.	6.7346	0.23403	0.7582:0.1627:0.0791:0.0	.	337;222;222	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	L	337;222;222;222	ENSP00000437534:S337L;ENSP00000441755:S222L;ENSP00000010132:S222L;ENSP00000439697:S222L	ENSP00000010132:S222L	S	+	2	0	DYRK4	4578559	1.000000	0.71417	0.950000	0.38849	0.508000	0.34012	4.249000	0.58766	0.856000	0.35383	-0.410000	0.06199	TCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.463	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	C		-		4708298	1	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	SNP	0.998	T	T	4708298	C	T	4708298	3	4	87	1	0	0	0	0	1	0	0	0	4860	893	31	1	683	1	DYRK4	12	4708298	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09	3713330	4708298	129143597	16	4946											
LAG3	3902	genome.wustl.edu	37	chr12	6882880	6882880	+	Frame_Shift_Del	DEL	C	C	-													cagtggcccgcccgctgccgCccccggccatcccctggccc							TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:6882880delC	ENST00000203629.2	+	3	557	c.224delC	c.(223-225)gccfs	p.A75fs	LAG3_ENST00000441671.2_Frame_Shift_Del_p.A75fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	75	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCCGCTGCCGCCCCCGGCCAT	0.741																																																	0								ENSG00000089692						3	5	4					12																	6882880		1170	2425	3595	LAG3	SO:0001589	frameshift_variant	0				HGNC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.224delC	12.37:g.6882880delC	ENSP00000203629:p.Ala75fs	Somatic	0	16	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A8K7T9|Q7Z643	Frame_Shift_Del	DEL							smart_Ig_sub,pfscan_Ig-like_dom	p.G77fs	ENST00000203629.2	37	c.224	CCDS8561.1	12																																																																																			-	smart_Ig_sub		0.741	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	protein_coding	OTTHUMT00000402846.1	C				6882880	1	no_errors	ENST00000203629	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	6882880	C	-	6882880	7	5	87	1	0	1	0	1	0	0	0	0	8602	739	26	0	234	0	LAG3	12	6882880	Frame_Shift_Del	DEL	C	TCGA-DX-A7EN-01A-11D-A38Z-09	2174582	6882880	126969015	17	4947											
CEP290	80184	genome.wustl.edu	37	chr12	88457822	88457822	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagttcaatattttcagatGacaacttcaagttttccttc	4	9	4	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:88457822G>A	ENST00000552810.1	-	45	6549	c.6206C>T	c.(6205-6207)tCa>tTa	p.S2069L	CEP290_ENST00000547691.2_Missense_Mutation_p.S1129L|CEP290_ENST00000397838.3_Missense_Mutation_p.S1129L|CEP290_ENST00000309041.7_Missense_Mutation_p.S2071L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2069					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						ATTTTCAGATGACAACTTCAA	0.313																																																	0								ENSG00000198707						46	42	43					12																	88457822		1809	4064	5873	CEP290	SO:0001583	missense	0			-	HGNC	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.6206C>T	12.37:g.88457822G>A	ENSP00000448012:p.Ser2069Leu	Somatic	1	145	0.68		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	82	43.84	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP							NULL	p.S2071L	ENST00000552810.1	37	c.6212	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.129897	0.94473	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66460	0.38;-0.21;-0.21;0.38	5.68	5.68	0.88126	.	0.128054	0.53938	D	0.000044	T	0.76133	0.3945	M	0.65975	2.015	0.50039	D	0.999846	D	0.56968	0.978	P	0.53954	0.738	T	0.72880	-0.4158	10	0.30854	T	0.27	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	2069	O15078	CE290_HUMAN	L	1129;2069;2071;1129	ENSP00000446905:S1129L;ENSP00000448012:S2069L;ENSP00000308021:S2071L;ENSP00000380938:S1129L	ENSP00000308021:S2071L	S	-	2	0	CEP290	86981953	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.084000	0.94076	2.683000	0.91414	0.555000	0.69702	TCA	-	NULL		0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114	-		88457822	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88457822	G	A	88457822	3	1	87	1	0	0	0	0	1	0	0	0	3255	1294	45	2	1273	2	CEP290	12	88457822	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09	81574942	88457822	45394073	18	4948											
NOS1	4842	genome.wustl.edu	37	chr12	117672496	117672496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagggaagacacccaggtGgtccccaggctggtactgca	14	13	0	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:117672496G>T	ENST00000338101.4	-	21	3215	c.3211C>A	c.(3211-3213)Cac>Aac	p.H1071N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.H1037N			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)			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)		ACACCCAGGTGGTCCCCAGGC	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						45	50	48					12																	117672496		2038	4187	6225	NOS1	SO:0001583	missense	0			-	HGNC		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.3211C>A	12.37:g.117672496G>T	ENSP00000337459:p.His1071Asn	Somatic	0	102	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	56	39.78		Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.H1037N	ENST00000338101.4	37	c.3109	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.270846	0.95429	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.70164	-0.46;-0.46	5.05	5.05	0.67936	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);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86953	2.85	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.87018	0.2127	10	0.72032	D	0.01	-41.9998	18.583	0.91178	0.0:0.0:1.0:0.0	.	1037	P29475	NOS1_HUMAN	N	932;1037;1037;1071	ENSP00000320758:H1037N;ENSP00000337459:H1071N	ENSP00000320758:H1037N	H	-	1	0	NOS1	116156879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.525000	0.98039	2.615000	0.88500	0.561000	0.74099	CAC	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	G		-		117672496	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117672496	G	T	117672496	3	4	87	1	0	0	0	0	1	0	0	0	10543	1348	47	3	1231	3	NOS1	12	117672496	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09	29214674	117672496	16179399	19	4949											
RB1	5925	genome.wustl.edu	37	chr13	49033886	49033886	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccttctgtctgagcacccaGaattagaacatatcatctgg	8	11	4	3	rs137853295		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr13:49033886G>T	ENST00000267163.4	+	20	2161	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	675	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGAGCACCCAGAATTAGAACA	0.423		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CM920604	RB1	M	rs137853295	ENSG00000139687						113	110	111					13																	49033886		2203	4300	6503	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2023G>T	13.37:g.49033886G>T	ENSP00000267163:p.Glu675*	Somatic	0	123	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	3	92.50	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.E675*	ENST00000267163.4	37	c.2023	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.237438	0.98719	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.7	5.7	0.88788	.	0.183316	0.47093	D	0.000258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.9984	19.8339	0.96646	0.0:0.0:1.0:0.0	.	.	.	.	X	654;675	.	ENSP00000267163:E675X	E	+	1	0	RB1	47931887	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.698000	0.92095	0.585000	0.79938	GAA	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like		0.423	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		rs137853295		49033886	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	49033886	G	T	49033886	4	4	87	1	0	0	0	0	0	1	0	0	13106	943	33	3	2101	3	RB1	13	49033886	Nonsense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		49033886	66135992	20	4950											
SYT16	83851	genome.wustl.edu	37	chr14	62542040	62542040	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagggcagcttggagatggaGacagcttttaatagccgggg	17	6	0	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr14:62542040G>A	ENST00000430451.2	+	3	1121	c.924G>A	c.(922-924)gaG>gaA	p.E308E	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.E308E	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	308					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGATGGAGACAGCTTTTA	0.502																																																	0								ENSG00000139973						114	115	114					14																	62542040		1956	4145	6101	SYT16	SO:0001819	synonymous_variant	0			-	HGNC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.924G>A	14.37:g.62542040G>A		Somatic	0	35	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP							NULL	p.E308	ENST00000430451.2	37	c.924	CCDS45121.1	14																																																																																			-	NULL		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	protein_coding	OTTHUMT00000411700.1	G	NM_031914	-		62542040	1	no_errors	ENST00000446982	ensembl	human	known	74_37	silent	SNP	0.982	A	A	62542040	G	A	62542040	2	1	87	1	0	0	0	0	0	0	0	1	15479	933	33	2		2	SYT16	14	62542040	Silent	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		62542040	44807500	21	4951											
INF2	64423	genome.wustl.edu	37	chr14	105173863	105173874	+	In_Frame_Del	DEL	CCCCACCCCCAC	CCCCACCCCCAC	-													cctggagcagcaggcgtccaCcccacccccacccccacccc					rs573567814|rs553174468	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	CCCCACCCCCAC	CCCCACCCCCAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr14:105173863_105173874delCCCCACCCCCAC	ENST00000392634.4	+	8	1371_1382	c.1259_1270delCCCCACCCCCAC	c.(1258-1272)accccacccccaccc>acc	p.PPPP425del	INF2_ENST00000330634.7_In_Frame_Del_p.PPPP425del	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	425	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.P427_P428delPP(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGGCGTCCAccccacccccacccccaccccc	0.712														802	0.160144	0.0613	0.1686	5008	,	,		3151	0.126		0.2614	False		,,,				2504	0.2188																1	Deletion - In frame(1)	skin(1)						ENSG00000203485		,	32,140,1168		15,1,1,53,33,567					,	-6.6	0		dbSNP_107	5	65,790,2431		28,5,4,309,167,1130	no	codingComplex,codingComplex	INF2	NM_022489.3,NM_001031714.3	,	43,6,5,362,200,1697	A1A1,A1A2,A1R,A2A2,A2R,RR		26.0195,12.8358,22.2006	,	,		97,930,3599				INF2	SO:0001651	inframe_deletion	0				HGNC	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1259_1270delCCCCACCCCCAC	14.37:g.105173863_105173874delCCCCACCCCCAC	ENSP00000376410:p.Pro425_Pro428del	Somatic					0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	In_Frame_Del	DEL							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.PPPP424in_frame_del	ENST00000392634.4	37	c.1259_1270	CCDS9989.2	14																																																																																			-	NULL		0.712	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	protein_coding	OTTHUMT00000074371.4	CCCCACCCCCAC	NM_022489			105173874	1	no_errors	ENST00000392634	ensembl	human	known	74_37	in_frame_del	DEL	0.431:0.313:0.918:0.874:0.812:0.982:0.976:0.941:0.992:0.945:0.221:0.238	-	-	105173874	CCCCACCCCCAC	-	105173863	7	5	87	1	0	1	0	1	0	0	0	0	7736	507	18	0	1289	0	INF2	14	105173863	In_Frame_Del	DEL	CCCCACCCCCAC	TCGA-DX-A7EN-01A-11D-A38Z-09	42631823	105173863	2175677	22	4952											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|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	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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	ENSG00000141510						67	58	61					17																	7577120		2203	4300	6503	TP53	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;	GMAF=0.0005	HGNC	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	Somatic	0	33	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs28934576		7577120	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.864	T	T	7577120	C	T	7577120	3	4	87	1	0	0	0	0	1	0	0	0	16388	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09		7577120	73618090	23	4953											
TP53	7157	genome.wustl.edu	37	chr17	7578242	7578242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcatccaaatactccaCacgcaaatttccttccactc	2	16	2	0			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:7578242C>A	ENST00000269305.4	-	6	796	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L	TP53_ENST00000359597.4_Missense_Mutation_p.V203L|TP53_ENST00000420246.2_Missense_Mutation_p.V203L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V203L|TP53_ENST00000445888.2_Missense_Mutation_p.V203L|TP53_ENST00000413465.2_Missense_Mutation_p.V203L	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	203	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 -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (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.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(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)	AAATACTCCACACGCAAATTT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	23	Whole gene deletion(8)|Substitution - Missense(5)|Unknown(5)|Deletion - Frameshift(4)|Complex - compound substitution(1)	biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(2)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|breast(1)|ovary(1)						ENSG00000141510						131	116	121					17																	7578242		2203	4300	6503	TP53	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;	-	HGNC	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.607G>T	17.37:g.7578242C>A	ENSP00000269305:p.Val203Leu	Somatic	0	69	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	37	49.32	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V203L	ENST00000269305.4	37	c.607	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695281	0.48202	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	5.41	3.39	0.38822	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110322	0.64402	D	0.000011	D	0.98779	0.9589	L	0.38175	1.15	0.29926	N	0.822297	B;B;B;B;B;B;B	0.27140	0.169;0.0;0.002;0.009;0.0;0.0;0.14	B;B;B;B;B;B;B	0.32762	0.152;0.002;0.014;0.003;0.002;0.002;0.051	D	0.99978	1.2320	10	0.87932	D	0	-2.4908	9.8126	0.40833	0.0:0.7818:0.1399:0.0784	.	164;203;203;110;203;203;203	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	203;203;203;203;203;203;192;110;71;110;71	ENSP00000410739:V203L;ENSP00000352610:V203L;ENSP00000269305:V203L;ENSP00000398846:V203L;ENSP00000391127:V203L;ENSP00000391478:V203L;ENSP00000425104:V71L;ENSP00000423862:V110L	ENSP00000269305:V203L	V	-	1	0	TP53	7518967	0.437000	0.25593	0.001000	0.08648	0.018000	0.09664	1.249000	0.32839	0.752000	0.32923	0.655000	0.94253	GTG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578242	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.809	A	A	7578242	C	A	7578242	3	1	87	1	0	0	0	0	1	0	0	0	16388	478	17	3	687	3	TP53	17	7578242	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09	1122	7578242	73616968	24	4954											
ABI3	51225	genome.wustl.edu	37	chr17	47295170	47295170	+	Frame_Shift_Del	DEL	C	C	-													tagccactgtccagcggctgCcccccggccagaaggtcatc							TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:47295170delC	ENST00000225941.1	+	3	853	c.355delC	c.(355-357)cccfs	p.P120fs	ABI3_ENST00000419580.2_Frame_Shift_Del_p.P114fs	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	120					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCAGCGGCTGCCCCCCGGCCA	0.607										HNSCC(55;0.14)																																							0								ENSG00000108798						94	93	94					17																	47295170		2203	4300	6503	ABI3	SO:0001589	frameshift_variant	0				HGNC	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.355delC	17.37:g.47295170delC	ENSP00000225941:p.Pro120fs	Somatic	0	40	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	C9IZN8|Q9H0P6	Frame_Shift_Del	DEL							pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G121fs	ENST00000225941.1	37	c.355	CCDS11546.1	17																																																																																			-	pfam_Abl-interactor_HHR_dom		0.607	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	protein_coding	OTTHUMT00000364475.1	C	NM_016428			47295170	1	no_errors	ENST00000225941	ensembl	human	known	74_37	frame_shift_del	DEL	0.866	-	-	47295170	C	-	47295170	7	5	87	1	0	1	0	1	0	0	0	0	90	739	26	0	365	0	ABI3	17	47295170	Frame_Shift_Del	DEL	C	TCGA-DX-A7EN-01A-11D-A38Z-09	39716928	47295170	33900040	25	4955											
TIMP2	7077	genome.wustl.edu	37	chr17	76867051	76867051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgaggagggggccgtgTagataaactctatatccttc	12	10	1	1	rs374979973		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:76867051T>C	ENST00000262768.7	-	3	567	c.269A>G	c.(268-270)tAc>tGc	p.Y90C	TIMP2_ENST00000536189.2_Missense_Mutation_p.Y13C|TIMP2_ENST00000586057.1_Missense_Mutation_p.Y13C|TIMP2_ENST00000585421.1_Missense_Mutation_p.Y13C	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	90	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GGGGGCCGTGTAGATAAACTC	0.532																																																	0								ENSG00000035862						106	100	102					17																	76867051		2203	4300	6503	TIMP2	SO:0001583	missense	0			-	HGNC		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.269A>G	17.37:g.76867051T>C	ENSP00000262768:p.Tyr90Cys	Somatic	0	57	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	23	61.67	Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP							pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.Y90C	ENST00000262768.7	37	c.269	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210619	0.58343	.	.	ENSG00000035862	ENST00000262768;ENST00000536189	D;D	0.93859	-3.3;-3.3	4.88	2.43	0.29744	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.215756	0.41001	D	0.000963	D	0.95912	0.8669	M	0.87456	2.885	0.33159	D	0.546782	D	0.89917	1.0	D	0.71414	0.973	D	0.95361	0.8455	10	0.87932	D	0	.	6.814	0.23820	0.1502:0.0:0.1563:0.6935	.	90	P16035	TIMP2_HUMAN	C	90;13	ENSP00000262768:Y90C;ENSP00000441724:Y13C	ENSP00000262768:Y90C	Y	-	2	0	TIMP2	74378646	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.571000	0.23669	0.686000	0.31488	0.358000	0.22013	TAC	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.532	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP2	protein_coding	OTTHUMT00000335662.1	T	NM_003255	-		76867051	-1	no_errors	ENST00000262768	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76867051	T	C	76867051	3	2	87	1	0	0	0	0	1	0	0	0	15925	1638	57	5	405	5	TIMP2	17	76867051	Missense_Mutation	SNP	T	TCGA-DX-A7EN-01A-11D-A38Z-09	29571881	76867051	4328159	26	4956											
PPAN	56342	genome.wustl.edu	37	chr19	10218217	10218217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaaggactgcgtggcaGtggctgggcccctcggggtc	18	12	0	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:10218217G>T	ENST00000253107.7	+	3	332	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.V23L|PPAN_ENST00000556468.1_Missense_Mutation_p.V76L|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.V76L|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.V76L	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	76	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTGCGTGGCAGTGGCTGGGCC	0.478																																																	0								ENSG00000243207						60	68	65					19																	10218217		2203	4300	6503	PPAN-P2RY11	SO:0001583	missense	0			-	HGNC	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.226G>T	19.37:g.10218217G>T	ENSP00000253107:p.Val76Leu	Somatic	0	62	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP							pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.V76L	ENST00000253107.7	37	c.226	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379867	0.61845	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223;ENST00000430370	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.81	4.77	0.60923	Brix domain (3);	.	.	.	.	T	0.38374	0.1038	M	0.62209	1.925	0.54753	D	0.999983	D;D;D	0.59357	0.985;0.97;0.97	P;P;P	0.60345	0.873;0.686;0.749	T	0.09997	-1.0649	9	0.26408	T	0.33	-43.0658	14.7259	0.69343	0.0:0.1457:0.8542:0.0	.	76;76;76	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	L	76;76;76;76;76;23;14;14	ENSP00000411918:V76L;ENSP00000377385:V76L;ENSP00000253107:V76L;ENSP00000450710:V76L;ENSP00000377382:V23L;ENSP00000410485:V14L;ENSP00000415988:V14L	ENSP00000253107:V76L	V	+	1	0	PPAN;PPAN-P2RY11	10079217	1.000000	0.71417	0.998000	0.56505	0.296000	0.27459	4.250000	0.58772	1.452000	0.47756	0.555000	0.69702	GTG	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix		0.478	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	protein_coding	OTTHUMT00000316658.1	G	NM_020230	-		10218217	1	no_errors	ENST00000393796	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10218217	G	T	10218217	3	4	87	1	0	0	0	0	1	0	0	0	12290	1029	36	3	236	3	PPAN	19	10218217	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		10218217	48910766	27	4957											
DPY19L3	147991	genome.wustl.edu	37	chr19	32954861	32954861	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgggagttacttctgaagtCagtccatctttataacccaa	7	9	3	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:32954861C>G	ENST00000342179.5	+	14	1747	c.1532C>G	c.(1531-1533)tCa>tGa	p.S511*	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Nonsense_Mutation_p.S511*|DPY19L3_ENST00000392250.2_Nonsense_Mutation_p.S511*	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	511						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTTCTGAAGTCAGTCCATCTT	0.408																																																	0								ENSG00000178904						213	188	196					19																	32954861		2203	4300	6503	DPY19L3	SO:0001587	stop_gained	0			-	HGNC		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1532C>G	19.37:g.32954861C>G	ENSP00000344937:p.Ser511*	Somatic	0	86	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	31	53.03	Q68DC7|Q6ZTB7|Q6ZTS2	Nonsense_Mutation	SNP							pfam_Dpy-19	p.S511*	ENST00000342179.5	37	c.1532	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.291509	0.97449	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	.	.	.	4.93	1.59	0.23543	.	0.715338	0.13844	N	0.358858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.4215	5.2805	0.15673	0.0:0.2636:0.258:0.4783	.	.	.	.	X	511	.	ENSP00000315672:S511X	S	+	2	0	DPY19L3	37646701	0.038000	0.19896	0.039000	0.18376	0.981000	0.71138	0.247000	0.18179	-0.031000	0.13781	0.557000	0.71058	TCA	-	pfam_Dpy-19		0.408	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	protein_coding	OTTHUMT00000450311.1	C	NM_207325	-		32954861	1	no_errors	ENST00000342179	ensembl	human	known	74_37	nonsense	SNP	0.002	G	G	32954861	C	G	32954861	4	3	87	1	0	0	0	0	0	1	0	0	4744	838	29	4	1582	4	DPY19L3	19	32954861	Nonsense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09	22736644	32954861	26174122	28	4958											
ZNF83	55769	genome.wustl.edu	37	chr19	53117787	53117787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgatttttaacaggctGcttttgtgcatcatcctttc	7	9	1	1			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:53117787G>T	ENST00000597597.1	-	2	2284	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	ZNF83_ENST00000545872.1_Missense_Mutation_p.Q11K|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q11K|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q11K|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q11K|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q11K|ZNF83_ENST00000391789.4_Missense_Mutation_p.Q11K|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	11					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(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTAACAGGCTGCTTTTGTGCA	0.398																																																	0								ENSG00000167766						50	54	53					19																	53117787		2203	4300	6503	ZNF83	SO:0001583	missense	0			-	HGNC	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.31C>A	19.37:g.53117787G>T	ENSP00000472619:p.Gln11Lys	Somatic	0	74	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q11K	ENST00000597597.1	37	c.31	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.314457	0.00235	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.06933	3.26;3.26;3.26;3.26;3.26;3.24	2.25	-4.5	0.03493	.	.	.	.	.	T	0.00875	0.0029	N	0.00007	-3.165	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49133	-0.8971	9	0.39692	T	0.17	.	0.3076	0.00283	0.3417:0.2674:0.1735:0.2174	.	11;11	P51522-2;P51522	.;ZNF83_HUMAN	K	11	ENSP00000445993:Q11K;ENSP00000301096:Q11K;ENSP00000445470:Q11K;ENSP00000440713:Q11K;ENSP00000439681:Q11K;ENSP00000375666:Q11K	ENSP00000301096:Q11K	Q	-	1	0	ZNF83	57809599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.024000	0.12435	-1.359000	0.02174	-2.451000	0.00208	CAG	-	NULL		0.398	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	protein_coding	OTTHUMT00000463700.1	G	NM_018300	-		53117787	-1	no_errors	ENST00000301096	ensembl	human	known	74_37	missense	SNP	0.000	T	T	53117787	G	T	53117787	3	4	87	1	0	0	0	0	1	0	0	0	18190	1328	46	3	1523	3	ZNF83	19	53117787	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09	20162926	53117787	6011196	29	4959											
NLRP8	126205	genome.wustl.edu	37	chr19	56467377	56467377	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctttttgcctgaagcgGtgtcaatatttgcatgaggt	11	7	2	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:56467377G>T	ENST00000291971.3	+	3	2024	c.1953G>T	c.(1951-1953)cgG>cgT	p.R651R	NLRP8_ENST00000590542.1_Silent_p.R651R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	651			R -> W (in dbSNP:rs41481648).		neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			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)		GCCTGAAGCGGTGTCAATATT	0.458																																																	0								ENSG00000179709						143	132	136					19																	56467377		2203	4300	6503	NLRP8	SO:0001819	synonymous_variant	0			-	HGNC	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.1953G>T	19.37:g.56467377G>T		Somatic	0	97	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q7RTR4	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R651	ENST00000291971.3	37	c.1953	CCDS12937.1	19																																																																																			-	NULL		0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811	-		56467377	1	no_errors	ENST00000291971	ensembl	human	known	74_37	silent	SNP	0.006	T	T	56467377	G	T	56467377	2	4	87	1	0	0	0	0	0	0	0	1	10485	1248	44	3		3	NLRP8	19	56467377	Silent	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09	3349590	56467377	2661606	30	4960											
RIPK4	54101	genome.wustl.edu	37	chr21	43161219	43161219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccgagtgcccgtgggCggcagccaggtgcagcgccg	16	16	0	0	rs199540981		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr21:43161219C>T	ENST00000352483.2	-	9	2342	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	760					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687													C|||	1	0.000199681	0	0	5008	,	,		16448	0.001		0	False		,,,				2504	0																0								ENSG00000183421						54	61	58					21																	43161219		2203	4298	6501	RIPK4	SO:0001583	missense	0			GMAF=0.0005	HGNC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2278G>A	21.37:g.43161219C>T	ENSP00000330161:p.Ala760Thr	Somatic	0	37	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	10	69.70	Q96KH0	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A760T	ENST00000352483.2	37	c.2278		21	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.75	1.439558	0.25900	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.61	4.61	0.57282	.	0.137225	0.33650	N	0.004689	T	0.58652	0.2137	L	0.49350	1.555	0.09310	N	1	D	0.56287	0.975	P	0.46975	0.533	T	0.53165	-0.8477	10	0.22706	T	0.39	-28.7062	12.4094	0.55459	0.0:0.8305:0.1695:0.0	.	712	P57078-2	.	T	712;760;649;649	ENSP00000332454:A712T;ENSP00000330161:A760T;ENSP00000441754:A649T;ENSP00000442901:A649T	ENSP00000332454:A712T	A	-	1	0	RIPK4	42034288	0.576000	0.26700	0.140000	0.22221	0.193000	0.23685	2.352000	0.44080	2.116000	0.64780	0.650000	0.86243	GCC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.687	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	protein_coding		C	NM_020639	rs199540981		43161219	-1	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	SNP	0.024	T	T	43161219	C	T	43161219	3	4	87	1	0	0	0	0	1	0	0	0	13391	768	27	1	224	1	RIPK4	21	43161219	Missense_Mutation	SNP	C	TCGA-DX-A7EN-01A-11D-A38Z-09		43161219	4968676	31	4961											
PRODH	5625	genome.wustl.edu	37	chr22	18907073	18907073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagtaggtctgctcgGcatccaccatcagccgcacg	12	14	2	0	rs573044597		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr22:18907073G>A	ENST00000357068.6	-	10	1407	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	PRODH_ENST00000420436.1_Missense_Mutation_p.A273V|PRODH_ENST00000334029.2_Missense_Mutation_p.A273V	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	381					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGTCTGCTCGGCATCCACCAT	0.602													.|||	1	0.000199681	8e-04	0	5008	,	,		14825	0		0	False		,,,				2504	0																0								ENSG00000100033						28	27	27					22																	18907073		2203	4299	6502	PRODH	SO:0001583	missense	0			-	HGNC	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.1142C>T	22.37:g.18907073G>A	ENSP00000349577:p.Ala381Val	Somatic	0	47	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP							pfam_Proline_DH	p.A381V	ENST00000357068.6	37	c.1142	CCDS13754.1	22	.	.	.	.	.	.	.	.	.	.	.	34	5.410403	0.96072	.	.	ENSG00000100033	ENST00000357068;ENST00000313755;ENST00000446371	T	0.49432	0.78	4.36	4.36	0.52297	Proline dehydrogenase (1);	0.047781	0.85682	N	0.000000	T	0.79347	0.4430	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.976;1.0;0.986	D	0.87000	0.2116	10	0.87932	D	0	-39.6297	15.3502	0.74376	0.0:0.0:1.0:0.0	.	297;381;273	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	V	381;26;106	ENSP00000349577:A381V	ENSP00000318329:A26V	A	-	2	0	PRODH	17287073	1.000000	0.71417	0.722000	0.30670	0.969000	0.65631	9.076000	0.94009	2.397000	0.81536	0.543000	0.68304	GCC	-	pfam_Proline_DH		0.602	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	protein_coding	OTTHUMT00000316637.2	G	NM_016335	-		18907073	-1	no_errors	ENST00000357068	ensembl	human	known	74_37	missense	SNP	0.997	A	A	18907073	G	A	18907073	3	1	87	1	0	0	0	0	1	0	0	0	12553	1203	42	2	680	2	PRODH	22	18907073	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		18907073	32397493	32	4962											
PORCN	64840	genome.wustl.edu	37	chrX	48372971	48372971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtcaatggtggaagttGtcacaagctggaacctgccc	12	11	2	0			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chrX:48372971G>T	ENST00000326194.6	+	9	947	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F	PORCN_ENST00000355092.3_Missense_Mutation_p.V296F|PORCN_ENST00000355961.4_Missense_Mutation_p.V297F|PORCN_ENST00000367574.4_Missense_Mutation_p.V220F|PORCN_ENST00000537758.1_Missense_Mutation_p.V302F|PORCN_ENST00000359882.4_Missense_Mutation_p.V296F|PORCN_ENST00000361988.3_Missense_Mutation_p.V291F	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	302					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGGAAGTTGTCACAAGCTG	0.502																																																	0								ENSG00000102312						120	83	96					X																	48372971		2203	4300	6503	PORCN	SO:0001583	missense	0			-	HGNC	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.904G>T	X.37:g.48372971G>T	ENSP00000322304:p.Val302Phe	Somatic	0	110	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	75	34.78	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP							pfam_MBOAT_fam	p.V302F	ENST00000326194.6	37	c.904	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741158	0.89573	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	M	0.87381	2.88	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;0.999;0.999;1.0;1.0	D	0.89949	0.4078	10	0.87932	D	0	-20.4692	15.8854	0.79244	0.0:0.0:1.0:0.0	.	296;302;220;291;297	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	F	296;302;220;297;291;302;296	ENSP00000352946:V296F;ENSP00000446401:V302F;ENSP00000356546:V220F;ENSP00000348233:V297F;ENSP00000354978:V291F;ENSP00000322304:V302F;ENSP00000347207:V296F	ENSP00000322304:V302F	V	+	1	0	PORCN	48257915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.023000	0.93683	2.350000	0.79820	0.529000	0.55759	GTC	-	pfam_MBOAT_fam		0.502	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	protein_coding	OTTHUMT00000356990.1	G	NM_022825	-		48372971	1	no_errors	ENST00000326194	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48372971	G	T	48372971	3	4	87	1	0	0	0	0	1	0	0	0	12260	1377	48	3	938	3	PORCN	23	48372971	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09		48372971	106897589	33	4963											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic					0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT	TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	87	1	0	1	1	0	0	0	0	0	14304	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-DX-A7EN-01A-11D-A38Z-09	1977787	50350758	104919802	34	4964											
PCDH11X	27328	genome.wustl.edu	37	chrX	91642819	91642819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaccatgatgcaggcaGccttaccagcacatctcatg	11	12	1	2			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chrX:91642819G>A	ENST00000373094.1	+	5	4075	c.3230G>A	c.(3229-3231)aGc>aAc	p.S1077N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1077N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1040N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1040N|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1067N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1067N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1077					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						GATGCAGGCAGCCTTACCAGC	0.562																																					NSCLC(38;925 1092 2571 38200 45895)												0								ENSG00000102290						173	132	146					X																	91642819		2201	4298	6499	PCDH11X	SO:0001583	missense	0			-	HGNC	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.3230G>A	X.37:g.91642819G>A	ENSP00000362186:p.Ser1077Asn	Somatic	0	87	0		0.780509681566549				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	29	54.69	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1077N	ENST00000373094.1	37	c.3230	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664728	0.29604	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.63580	-0.05;0.04;-0.03;0.07;-0.0;-0.03	3.4	2.43	0.29744	.	0.000000	0.53938	U	0.000055	T	0.60586	0.2280	L	0.58810	1.83	0.23776	N	0.99687	P;P;P;P;P	0.48503	0.82;0.911;0.911;0.911;0.856	P;P;P;P;B	0.44990	0.466;0.466;0.466;0.466;0.276	T	0.59236	-0.7492	10	0.87932	D	0	.	12.6145	0.56569	0.0:0.1849:0.8151:0.0	.	1040;1067;1077;1067;1077	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1077;1067;1040;1067;1077;1077;1040	ENSP00000362186:S1077N;ENSP00000362189:S1067N;ENSP00000362180:S1040N;ENSP00000355105:S1067N;ENSP00000384758:S1077N;ENSP00000298274:S1040N	ENSP00000298274:S1040N	S	+	2	0	PCDH11X	91529475	1.000000	0.71417	0.957000	0.39632	0.190000	0.23558	2.941000	0.49011	1.297000	0.44761	0.502000	0.49764	AGC	-	NULL		0.562	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	protein_coding	OTTHUMT00000057436.1	G	NM_032969	-		91642819	1	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	SNP	0.862	A	A	91642819	G	A	91642819	3	1	87	1	0	0	0	0	1	0	0	0	11510	971	34	2	3370	2	PCDH11X	23	91642819	Missense_Mutation	SNP	G	TCGA-DX-A7EN-01A-11D-A38Z-09	41292061	91642819	63627741	35	4965											
CSMD2	114784	genome.wustl.edu	37	chr1	34191064	34191064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgggtcccgtggtaaaCcccgatcaagggcgctgagt	13	12	1	1	rs200072338		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:34191064C>T	ENST00000373381.4	-	17	2757	c.2581G>A	c.(2581-2583)Gtt>Att	p.V861I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	821						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGTGGTAAACCCCGATCAAG	0.537																																																	0								ENSG00000121904						114	114	114					1																	34191064		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2581G>A	1.37:g.34191064C>T	ENSP00000362479:p.Val861Ile	Somatic	0	61	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	57	38.71	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V861I	ENST00000373381.4	37	c.2581		1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431673	0.25813	.	.	ENSG00000121904	ENST00000373381	T	0.59906	0.23	5.89	4.97	0.65823	CUB (5);	0.119417	0.56097	D	0.000026	T	0.47691	0.1459	N	0.17379	0.485	0.80722	D	1	P;B	0.40083	0.702;0.084	B;B	0.43623	0.425;0.232	T	0.47355	-0.9124	10	0.36615	T	0.2	.	15.5007	0.75698	0.1395:0.8605:0.0:0.0	.	821;861	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	861	ENSP00000362479:V861I	ENSP00000241312:V821I	V	-	1	0	CSMD2	33963651	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	4.467000	0.60155	1.480000	0.48289	-0.181000	0.13052	GTT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		C	NM_052896	-		34191064	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	0.994	T	T	34191064	C	T	34191064	3	4	88	1	0	0	0	0	1	0	0	0	3947	507	18	2	8214	2	CSMD2	1	34191064	Missense_Mutation	SNP	C	TCGA-DX-A7EO-01A-11D-A36J-09		34191064	215059557	1	4966											
HMCN1	83872	genome.wustl.edu	37	chr1	185834938	185834938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatataaagtctatgaagaAattgcctctacaagttctgg	9	6	3	2			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:185834938A>C	ENST00000271588.4	+	4	793	c.564A>C	c.(562-564)gaA>gaC	p.E188D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E188D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	188	VWFA.				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)			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						TCTATGAAGAAATTGCCTCTA	0.348																																																	0								ENSG00000143341						86	91	89					1																	185834938		2203	4300	6503	HMCN1	SO:0001583	missense	0			-	HGNC	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.564A>C	1.37:g.185834938A>C	ENSP00000271588:p.Glu188Asp	Somatic	0	129	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	168	11.11	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E188D	ENST00000271588.4	37	c.564	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243643	0.79912	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97752	-4.52;-4.52	5.65	4.51	0.55191	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	N	0.17631	0.505	0.50467	D	0.999877	D	0.89917	1.0	D	0.87578	0.998	D	0.95376	0.8469	10	0.42905	T	0.14	.	9.0609	0.36433	0.858:0.0:0.142:0.0	.	188	Q96RW7	HMCN1_HUMAN	D	188	ENSP00000271588:E188D;ENSP00000356462:E188D	ENSP00000271588:E188D	E	+	3	2	HMCN1	184101561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.274000	0.51631	2.135000	0.66039	0.533000	0.62120	GAA	-	NULL		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	A	NM_031935	-		185834938	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	1.000	C	C	185834938	A	C	185834938	3	2	88	1	0	0	0	0	1	0	0	0	7222	11	1	5	578	5	HMCN1	1	185834938	Missense_Mutation	SNP	A	TCGA-DX-A7EO-01A-11D-A36J-09	151643874	185834938	63415683	2	4967											
CENPF	1063	genome.wustl.edu	37	chr1	214815232	214815232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaagaaagagagagtgAgagaaatcaatgtaatttta	11	1	1	6			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:214815232A>G	ENST00000366955.3	+	12	3719	c.3551A>G	c.(3550-3552)gAg>gGg	p.E1184G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					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)		AGAGAGAGTGAGAGAAATCAA	0.338																																					Colon(80;575 1284 11000 14801 43496)												0								ENSG00000117724						47	53	51					1																	214815232		2201	4296	6497	CENPF	SO:0001583	missense	0			-	HGNC	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.3551A>G	1.37:g.214815232A>G	ENSP00000355922:p.Glu1184Gly	Somatic	0	39	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP							pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.E1184G	ENST00000366955.3	37	c.3551	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584359	0.65992	.	.	ENSG00000117724	ENST00000366955	T	0.04156	3.69	5.31	2.89	0.33648	.	0.200392	0.24769	N	0.035750	T	0.17492	0.0420	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02202	-1.1196	9	0.72032	D	0.01	.	11.0085	0.47649	0.701:0.2989:0.0:0.0	.	1184	P49454	CENPF_HUMAN	G	1184	ENSP00000355922:E1184G	ENSP00000355922:E1184G	E	+	2	0	CENPF	212881855	0.954000	0.32549	0.011000	0.14972	0.375000	0.29983	3.113000	0.50376	0.292000	0.22492	0.496000	0.49642	GAG	-	NULL		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	A	NM_016343	-		214815232	1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	SNP	0.046	G	G	214815232	A	G	214815232	3	3	88	1	0	0	0	0	1	0	0	0	3233	304	11	5	3593	5	CENPF	1	214815232	Missense_Mutation	SNP	A	TCGA-DX-A7EO-01A-11D-A36J-09	28980294	214815232	34435389	3	4968											
MGAT5	4249	genome.wustl.edu	37	chr2	135160626	135160626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaactgtttatggctccaGcacaaagaatattcccagtt	7	10	0	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr2:135160626G>A	ENST00000409645.1	+	12	1700	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	MGAT5_ENST00000281923.2_Missense_Mutation_p.S483N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	483					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TATGGCTCCAGCACAAAGAAT	0.408																																																	0								ENSG00000152127						99	98	98					2																	135160626		2203	4300	6503	MGAT5	SO:0001583	missense	0			-	HGNC	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1448G>A	2.37:g.135160626G>A	ENSP00000386377:p.Ser483Asn	Somatic	0	35	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	D3DP70	Missense_Mutation	SNP							NULL	p.S483N	ENST00000409645.1	37	c.1448	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279710	0.59758	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.69	5.69	0.88448	.	0.122515	0.85682	D	0.000000	T	0.55337	0.1914	L	0.36672	1.1	0.80722	D	1	B	0.30281	0.275	B	0.30782	0.12	T	0.49485	-0.8935	9	0.21540	T	0.41	-22.8441	19.8275	0.96624	0.0:0.0:1.0:0.0	.	483	Q09328	MGT5A_HUMAN	N	483	.	ENSP00000281923:S483N	S	+	2	0	MGAT5	134877096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	AGC	-	NULL		0.408	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	protein_coding	OTTHUMT00000254584.3	G	NM_002410	-		135160626	1	no_errors	ENST00000281923	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135160626	G	A	135160626	3	1	88	1	0	0	0	0	1	0	0	0	9550	971	34	2	1490	2	MGAT5	2	135160626	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09		135160626	108038747	4	4969											
DNAH12	201625	genome.wustl.edu	37	chr3	57431127	57431127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtttggaaccatcataGccactgttctaaaaagaacc	6	10	2	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:57431127G>A	ENST00000351747.2	-	28	4310	c.4130C>T	c.(4129-4131)gCt>gTt	p.A1377V		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1377	AAA 1. {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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACCATCATAGCCACTGTTCT	0.343																																																	0								ENSG00000174844						48	43	44					3																	57431127		692	1591	2283	DNAH12	SO:0001583	missense	0			-	HGNC	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4130C>T	3.37:g.57431127G>A	ENSP00000295937:p.Ala1377Val	Somatic	0	59	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A1377V	ENST00000351747.2	37	c.4130		3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502735	0.85176	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.14022	2.54;2.54	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.46483	0.1395	M	0.90019	3.08	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	T	0.54302	-0.8314	9	0.87932	D	0	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	1377	Q6ZR08	DYH12_HUMAN	V	1377;1400	ENSP00000295937:A1377V;ENSP00000418137:A1400V	ENSP00000295937:A1377V	A	-	2	0	DNAH12	57406167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.607000	0.98328	2.753000	0.94483	0.467000	0.42956	GCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	protein_coding		G	NM_178504	-		57431127	-1	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57431127	G	A	57431127	3	1	88	1	0	0	0	0	1	0	0	0	4602	971	34	2	5276	2	DNAH12	3	57431127	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09		57431127	140591303	5	4970											
TM4SF1	4071	genome.wustl.edu	37	chr3	149093481	149093482	+	Frame_Shift_Del	DEL	CA	CA	-													acctaccgcacatcgtttgcCacagttttcatggccacagc					rs145699705		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:149093481_149093482delCA	ENST00000305366.3	-	2	569_570	c.252_253delTG	c.(250-255)tgtggcfs	p.CG84fs	TM4SF1_ENST00000472441.1_5'UTR|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	84						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CATCGTTTGCCACAGTTTTCAT	0.515																																																	0								ENSG00000169908																																			TM4SF1	SO:0001589	frameshift_variant	0				HGNC	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.252_253delTG	3.37:g.149093483_149093484delCA	ENSP00000304277:p.Cys84fs	Somatic	0	32	0		0.49556294218954	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	10	64.29	Q6IB51	Frame_Shift_Del	DEL							pfam_L6_membrane	p.C84fs	ENST00000305366.3	37	c.253_252	CCDS3143.1	3																																																																																			-	pfam_L6_membrane		0.515	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	protein_coding	OTTHUMT00000356368.1	CA				149093482	-1	no_errors	ENST00000305366	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.919	-	-	149093482	CA	-	149093481	7	5	88	1	0	1	0	1	0	0	0	0	15973	594	21	0	371	0	TM4SF1	3	149093481	Frame_Shift_Del	DEL	CA	TCGA-DX-A7EO-01A-11D-A36J-09	91662354	149093481	48928949	6	4971											
PHC3	80012	genome.wustl.edu	37	chr3	169846633	169846633	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaaacctggccctgggacaGaatttcaggctgcacttgta	10	11	1	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:169846633G>T	ENST00000494943.1	-	8	1659	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	PHC3_ENST00000495893.2_Missense_Mutation_p.L543M|PHC3_ENST00000467570.1_Missense_Mutation_p.L490M			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	531	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CCCTGGGACAGAATTTCAGGC	0.512																																																	0								ENSG00000173889						128	131	130					3																	169846633		1950	4142	6092	PHC3	SO:0001583	missense	0			-	HGNC		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1591C>A	3.37:g.169846633G>T	ENSP00000420271:p.Leu531Met	Somatic	0	56	0		0.49556294218954	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.L543M	ENST00000494943.1	37	c.1627		3	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706524	0.48412	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.35048	1.36;1.33	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.48554	0.1506	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.995;0.999	D;D;D;D	0.87578	0.986;0.998;0.979;0.998	T	0.33111	-0.9881	10	0.33141	T	0.24	-11.3471	10.2726	0.43491	0.1467:0.0:0.8533:0.0	.	490;490;531;543	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	M	531;543;490	ENSP00000420271:L531M;ENSP00000420294:L543M	ENSP00000419089:L490M	L	-	1	2	PHC3	171329327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.083000	0.57643	2.670000	0.90874	0.563000	0.77884	CTG	-	NULL		0.512	PHC3-004	KNOWN	basic	protein_coding	PHC3	protein_coding	OTTHUMT00000352182.3	G	NM_024947	-		169846633	-1	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	SNP	1.000	T	T	169846633	G	T	169846633	3	4	88	1	0	0	0	0	1	0	0	0	11820	933	33	3	1392	3	PHC3	3	169846633	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09	20753152	169846633	28175797	7	4972											
LPHN3	23284	genome.wustl.edu	37	chr4	62363037	62363037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgcagctactaatttTcatgatgctcttagctccaa	6	12	2	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr4:62363037T>C	ENST00000514591.1	+	3	355	c.26T>C	c.(25-27)tTc>tCc	p.F9S	LPHN3_ENST00000512091.2_Missense_Mutation_p.F9S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F9S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F9S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F9S|LPHN3_ENST00000504896.1_Missense_Mutation_p.F9S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F9S|LPHN3_ENST00000506720.1_Missense_Mutation_p.F9S|LPHN3_ENST00000545650.1_Missense_Mutation_p.F9S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F9S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F9S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F9S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F9S|LPHN3_ENST00000509896.1_Missense_Mutation_p.F9S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F9S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	9					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTAATTTTCATGATGCTC	0.363																																																	0								ENSG00000150471						158	148	151					4																	62363037		1852	4111	5963	LPHN3	SO:0001583	missense	0			-	HGNC	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.26T>C	4.37:g.62363037T>C	ENSP00000422533:p.Phe9Ser	Somatic	0	59	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP							pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.F9S	ENST00000514591.1	37	c.26	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	T	6.738	0.505031	0.12822	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70045	-0.43;-0.42;-0.45;-0.45;-0.43;-0.42;-0.45;-0.45;-0.42;-0.43;-0.42;-0.42;-0.42;-0.42;-0.42	4.91	2.41	0.29592	.	.	.	.	.	T	0.44477	0.1295	N	0.19112	0.55	0.21220	N	0.999752	B;B;B	0.27765	0.013;0.188;0.009	B;B;B	0.17979	0.012;0.02;0.01	T	0.20107	-1.0285	9	0.22109	T	0.4	.	5.9427	0.19201	0.0:0.0859:0.1657:0.7484	.	9;9;9	E9PE04;E7EN28;Q9HAR2-2	.;.;.	S	9	ENSP00000423388:F9S;ENSP00000422533:F9S;ENSP00000423787:F9S;ENSP00000425033:F9S;ENSP00000424120:F9S;ENSP00000439831:F9S;ENSP00000421476:F9S;ENSP00000424030:F9S;ENSP00000421372:F9S;ENSP00000425201:F9S;ENSP00000423434:F9S;ENSP00000421627:F9S;ENSP00000420931:F9S;ENSP00000425884:F9S;ENSP00000424258:F9S	ENSP00000280009:F9S	F	+	2	0	LPHN3	62045632	1.000000	0.71417	0.631000	0.29282	0.019000	0.09904	2.391000	0.44424	0.223000	0.20920	-0.379000	0.06801	TTC	-	NULL		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	protein_coding	OTTHUMT00000361765.1	T		-		62363037	1	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	SNP	0.999	C	C	62363037	T	C	62363037	3	2	88	1	0	0	0	0	1	0	0	0	8919	1783	62	5	28	5	LPHN3	4	62363037	Missense_Mutation	SNP	T	TCGA-DX-A7EO-01A-11D-A36J-09		62363037	128791239	8	4973											
PTPRK	5796	genome.wustl.edu	37	chr6	128505867	128505867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcaatgggtcttggcGgttctaggagagatgagtgt	18	4	2	2			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr6:128505867G>A	ENST00000368215.3	-	7	871	c.872C>T	c.(871-873)cCg>cTg	p.P291L	PTPRK_ENST00000532331.1_Missense_Mutation_p.P291L|PTPRK_ENST00000368207.3_Missense_Mutation_p.P291L|PTPRK_ENST00000368210.3_Missense_Mutation_p.P291L|PTPRK_ENST00000368226.4_Missense_Mutation_p.P291L|PTPRK_ENST00000368227.3_Missense_Mutation_p.P291L|PTPRK_ENST00000368213.5_Missense_Mutation_p.P291L|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	291					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGTCTTGGCGGTTCTAGGAG	0.393																																																	0								ENSG00000152894						57	54	55					6																	128505867		2203	4299	6502	PTPRK	SO:0001583	missense	0			-	HGNC	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.872C>T	6.37:g.128505867G>A	ENSP00000357198:p.Pro291Leu	Somatic	0	73	0		0.49556294218954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	78	8.24	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P291L	ENST00000368215.3	37	c.872		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.084153|4.084153	0.76642|0.76642	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676|ENST00000490332	T;T;T;T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47;1.47;1.47;1.47|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73830|0.73830	0.3637|0.3637	M|M	0.78049|0.78049	2.395|2.395	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|.	0.97110|.	0.999;1.0;1.0;1.0;0.999;0.999|.	T|T	0.73534|0.73534	-0.3952|-0.3952	10|5	0.52906|.	T|.	0.07|.	.|.	19.4299|19.4299	0.94759|0.94759	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	291;291;291;148;291;291|.	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2|.	.;.;.;.;PTPRK_HUMAN;.|.	L|C	291;291;291;291;291;291;291;148|108	ENSP00000357209:P291L;ENSP00000357210:P291L;ENSP00000432973:P291L;ENSP00000357196:P291L;ENSP00000357193:P291L;ENSP00000357198:P291L;ENSP00000357190:P291L|.	ENSP00000357190:P291L|.	P|R	-|-	2|1	0|0	PTPRK|PTPRK	128547560|128547560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	9.869000|9.869000	0.99810|0.99810	2.585000|2.585000	0.87301|0.87301	0.563000|0.563000	0.77884|0.77884	CCG|CGC	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	protein_coding	OTTHUMT00000042163.1	G		-		128505867	-1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128505867	G	A	128505867	3	1	88	1	0	0	0	0	1	0	0	0	12813	1116	39	1	3568	1	PTPRK	6	128505867	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09		128505867	42609200	9	4974											
FAM131B	9715	genome.wustl.edu	37	chr7	143056847	143056847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccgtcccaggagaaaTcagttcgagtttgctgtgag	13	8	1	3			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr7:143056847T>C	ENST00000409408.1	-	2	1776	c.68A>G	c.(67-69)gAt>gGt	p.D23G	FAM131B_ENST00000443739.2_Missense_Mutation_p.D51G|FAM131B_ENST00000409346.1_Missense_Mutation_p.D23G|FAM131B_ENST00000409578.1_Intron|FAM131B_ENST00000409222.3_Missense_Mutation_p.D23G			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	23										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGGAGAAATCAGTTCGAGT	0.582																																																	0								ENSG00000159784						69	53	58					7																	143056847		2199	4297	6496	FAM131B	SO:0001583	missense	0			-	HGNC	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.68A>G	7.37:g.143056847T>C	ENSP00000387017:p.Asp23Gly	Somatic	0	52	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP							NULL	p.D51G	ENST00000409408.1	37	c.152	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025625	0.54683	.	.	ENSG00000159784	ENST00000443739;ENST00000409346;ENST00000409408;ENST00000409222	T;T;T;T	0.29917	1.94;1.55;1.55;1.55	4.98	4.98	0.66077	.	0.352416	0.25143	N	0.032811	T	0.27454	0.0674	L	0.46157	1.445	0.40291	D	0.978501	B	0.25609	0.13	B	0.20955	0.032	T	0.11012	-1.0605	10	0.66056	D	0.02	-9.5855	10.7805	0.46376	0.0:0.0:0.1589:0.8411	.	23	Q86XD5	F131B_HUMAN	G	51;23;23;23	ENSP00000410603:D51G;ENSP00000386984:D23G;ENSP00000387017:D23G;ENSP00000387147:D23G	ENSP00000387147:D23G	D	-	2	0	FAM131B	142766969	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	5.123000	0.64703	1.855000	0.53841	0.383000	0.25322	GAT	-	NULL		0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	protein_coding	OTTHUMT00000328057.1	T	NM_014690	-		143056847	-1	no_errors	ENST00000443739	ensembl	human	known	74_37	missense	SNP	1.000	C	C	143056847	T	C	143056847	3	2	88	1	0	0	0	0	1	0	0	0	5442	1435	50	5	950	5	FAM131B	7	143056847	Missense_Mutation	SNP	T	TCGA-DX-A7EO-01A-11D-A36J-09		143056847	16081816	10	4975											
CTAGE4	100128553	genome.wustl.edu	37	chr7	143882454	143882454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatcatatcctgattcaActcttcctccacaaagggaa	6	12	3	1	rs199890465		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr7:143882454A>G	ENST00000486333.1	+	1	1896	c.1858A>G	c.(1858-1860)Act>Gct	p.T620A		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	620						integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TCCTGATTCAACTCTTCCTCC	0.453																																																	0								ENSG00000225932						0	1	1					7																	143882454		0	5	5	CTAGE4	SO:0001583	missense	0			-	HGNC	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1858A>G	7.37:g.143882454A>G	ENSP00000419539:p.Thr620Ala	Somatic	0	11	0		0.49556294218954	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	A8K871|O95046	Missense_Mutation	SNP							superfamily_tRNA-bd_arm	p.T620A	ENST00000486333.1	37	c.1858	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	1.759	-0.487290	0.04352	.	.	ENSG00000225932	ENST00000486333	T	0.59638	0.25	.	.	.	.	.	.	.	.	T	0.11965	0.0291	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	7	0.02654	T	1	.	.	.	.	.	620	Q8IX94	CTGE4_HUMAN	A	620	ENSP00000419539:T620A	ENSP00000419539:T620A	T	+	1	0	CTAGE4	143513387	0.869000	0.29996	0.052000	0.19188	0.053000	0.15095	-0.081000	0.11321	-1.345000	0.02214	-1.352000	0.01234	ACT	-	NULL		0.453	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	protein_coding	OTTHUMT00000349970.1	A	NM_198495	rs199890465		143882454	1	no_errors	ENST00000486333	ensembl	human	known	74_37	missense	SNP	0.063	G	G	143882454	A	G	143882454	3	3	88	1	0	0	0	0	1	0	0	0	3995	43	2	5	1860	5	CTAGE4	7	143882454	Missense_Mutation	SNP	A	TCGA-DX-A7EO-01A-11D-A36J-09	825607	143882454	15256209	11	4976											
CA8	767	genome.wustl.edu	37	chr8	61178601	61178601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaggcaatggtcctccCgaaagaactgaaaaagaaaa	9	9	0	4			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr8:61178601C>T	ENST00000317995.4	-	3	564	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	100			S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation). {ECO:0000269|PubMed:19461874}.		one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	ATGGTCCTCCCGAAAGAACTG	0.388																																																	0								ENSG00000178538						60	58	58					8																	61178601		2203	4300	6503	CA8	SO:0001819	synonymous_variant	0			-	HGNC	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.300G>A	8.37:g.61178601C>T		Somatic	0	145	0		0.49556294218954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	130	9.09	A8K0A5|B3KQZ7|Q32MY2	Silent	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S100	ENST00000317995.4	37	c.300	CCDS6174.1	8																																																																																			-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.388	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	protein_coding	OTTHUMT00000383445.1	C		-		61178601	-1	no_errors	ENST00000317995	ensembl	human	known	74_37	silent	SNP	0.091	T	T	61178601	C	T	61178601	2	4	88	1	0	0	0	0	0	0	0	1	2525	639	23	1		1	CA8	8	61178601	Silent	SNP	C	TCGA-DX-A7EO-01A-11D-A36J-09		61178601	85185421	12	4977											
TERF1	7013	genome.wustl.edu	37	chr8	73921283	73921284	+	In_Frame_Ins	INS	-	-	GAGGAG													aggtgcaggtgggggcccccINSgaggaggaggaggaggagga					rs375837075|rs149294115|rs3832552	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr8:73921283_73921284insGAGGAG	ENST00000276603.5	+	1	185_186	c.162_163insGAGGAG	c.(163-165)gag>GAGGAGgag	p.55_55E>EEE	TERF1_ENST00000276602.6_In_Frame_Ins_p.55_55E>EEE	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	55	Asp/Glu-rich (acidic).|Poly-Glu.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TGGGGGCCCCCgaggaggagga	0.653														22	0.00439297	8e-04	0.0303	5008	,	,		13580	0		0	False		,,,				2504	0																0								ENSG00000147601																																			TERF1	SO:0001652	inframe_insertion	0				HGNC	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.181_186dupGAGGAG	8.37:g.73921284_73921289dupGAGGAG	ENSP00000276603:p.GluGlu61dup	Somatic					0.49556294218954	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Ins	INS							pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.58in_frame_insEE	ENST00000276603.5	37	c.162_163	CCDS6211.1	8																																																																																			-	pirsf_Telomere_repeat-bd-1/2		0.653	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	protein_coding	OTTHUMT00000379093.1	-	NM_017489			73921284	1	no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.121	GAGGAG	GAGGAG	73921284	-	GAGGAG	73921283	7	5	88	1	0	1	1	0	0	0	0	0	15768	639	23	0	164	0	TERF1	8	73921283	In_Frame_Ins	INS	-	TCGA-DX-A7EO-01A-11D-A36J-09	12742682	73921283	72442739	13	4978											
DENND4C	55667	genome.wustl.edu	37	chr9	19296118	19296118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaaaaatggtctccaAatccatcaatacaaacaaat	6	8	2	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr9:19296118A>G	ENST00000380432.2	+	2	239	c.206A>G	c.(205-207)aAa>aGa	p.K69R	DENND4C_ENST00000434457.2_Missense_Mutation_p.K305R|DENND4C_ENST00000602925.1_Missense_Mutation_p.K305R			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	69					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGTCTCCAAATCCATCAAT	0.383																																																	0								ENSG00000137145						157	147	150					9																	19296118		1857	4097	5954	DENND4C	SO:0001583	missense	0			-	HGNC	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.206A>G	9.37:g.19296118A>G	ENSP00000369797:p.Lys69Arg	Somatic	0	83	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	66	21.43	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K305R	ENST00000380432.2	37	c.914		9	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818868	0.32145	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.88	3.74	0.42951	.	0.106321	0.64402	N	0.000006	T	0.38506	0.1043	N	0.21282	0.65	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.11641	-1.0579	9	0.10377	T	0.69	-15.5586	10.5893	0.45300	0.924:0.0:0.076:0.0	.	69	Q5VZ89	DEN4C_HUMAN	R	69	.	ENSP00000369802:K69R	K	+	2	0	DENND4C	19286118	1.000000	0.71417	0.886000	0.34754	0.640000	0.38277	2.155000	0.42301	0.880000	0.35969	0.482000	0.46254	AAA	-	NULL		0.383	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	protein_coding		A	NM_017925	-		19296118	1	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	SNP	1.000	G	G	19296118	A	G	19296118	3	3	88	1	0	0	0	0	1	0	0	0	4437	14	1	5	212	5	DENND4C	9	19296118	Missense_Mutation	SNP	A	TCGA-DX-A7EO-01A-11D-A36J-09		19296118	121917313	14	4979											
CYLC2	1539	genome.wustl.edu	37	chr9	105767654	105767654	+	Frame_Shift_Del	DEL	A	A	-													gaaaagaaggatgaggatggAaaaaaagatgcaaacaaagg							TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr9:105767654delA	ENST00000374798.3	+	5	811	c.741delA	c.(739-741)ggafs	p.G247fs	CYLC2_ENST00000487798.1_Frame_Shift_Del_p.G247fs	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	247	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGAGGATGGAAAAAAAGATG	0.363																																																	0								ENSG00000155833						111	106	108					9																	105767654		2203	4300	6503	CYLC2	SO:0001589	frameshift_variant	0				HGNC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.741delA	9.37:g.105767654delA	ENSP00000420256:p.Gly247fs	Somatic	0	29	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R8F4|Q5VVJ9	Frame_Shift_Del	DEL							NULL	p.D250fs	ENST00000374798.3	37	c.741	CCDS35085.1	9																																																																																			-	NULL		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	A	NM_001340			105767654	1	no_errors	ENST00000374798	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	105767654	A	-	105767654	7	5	88	1	0	1	0	1	0	0	0	0	4144	233	9	0	759	0	CYLC2	9	105767654	Frame_Shift_Del	DEL	A	TCGA-DX-A7EO-01A-11D-A36J-09	86471536	105767654	35445777	15	4980											
KIAA0649	9858	genome.wustl.edu	37	chr9	138377272	138377272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtccagcccagaagcctcAggtccaaggtcacaaccacg	9	16	2	1	rs141353268		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr9:138377272A>G	ENST00000356818.2	+	4	1465	c.916A>G	c.(916-918)Agg>Ggg	p.R306G	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R306G|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R306G|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R306G|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R306G	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	306					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAAGCCTCAGGTCCAAGGT	0.597																																																	0								ENSG00000196422																																			PPP1R26	SO:0001583	missense	0			-	HGNC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.916A>G	9.37:g.138377272A>G	ENSP00000349274:p.Arg306Gly	Somatic	0	42	0		0.49556294218954	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP							NULL	p.R306G	ENST00000356818.2	37	c.916	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868993	0.32977	.	.	ENSG00000196422	ENST00000356818	T	0.11712	2.75	5.37	1.34	0.21922	.	0.472484	0.19213	N	0.119862	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.28459	-1.0043	10	0.48119	T	0.1	-10.8744	8.2536	0.31741	0.4295:0.4928:0.0777:0.0	.	306	Q5T8A7	PPR26_HUMAN	G	306	ENSP00000349274:R306G	ENSP00000349274:R306G	R	+	1	2	KIAA0649	137517093	0.491000	0.26019	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	-0.034000	0.13713	0.533000	0.62120	AGG	-	NULL		0.597	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	protein_coding	OTTHUMT00000054987.1	A	NM_014811	rs141353268		138377272	1	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	SNP	0.000	G	G	138377272	A	G	138377272	3	3	88	1	0	0	0	0	1	0	0	0	8189	179	7	5	918	5	KIAA0649	9	138377272	Missense_Mutation	SNP	A	TCGA-DX-A7EO-01A-11D-A36J-09	32609618	138377272	2836159	16	4981											
SORCS3	22986	genome.wustl.edu	37	chr10	106927044	106927044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagtacaatgtctggtTcctagactggggtggtgccc	14	8	1	3			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr10:106927044T>A	ENST00000369701.3	+	13	2065	c.1838T>A	c.(1837-1839)tTc>tAc	p.F613Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	613					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)		AATGTCTGGTTCCTAGACTGG	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						133	116	122					10																	106927044		2203	4300	6503	SORCS3	SO:0001583	missense	0			-	HGNC	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.1838T>A	10.37:g.106927044T>A	ENSP00000358715:p.Phe613Tyr	Somatic	0	42	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.F613Y	ENST00000369701.3	37	c.1838	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716459	0.15306	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.31247	1.5;1.5	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.28400	0.85	0.44395	D	0.997305	B	0.20052	0.041	B	0.28011	0.085	T	0.09122	-1.0689	9	.	.	.	.	11.188	0.48669	0.1371:0.0:0.0:0.8629	.	613	Q9UPU3	SORC3_HUMAN	Y	613;58	ENSP00000358715:F613Y;ENSP00000376876:F58Y	.	F	+	2	0	SORCS3	106917034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.037000	0.41174	2.197000	0.70478	0.533000	0.62120	TTC	-	smart_VPS10		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	T	NM_014978	-		106927044	1	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106927044	T	A	106927044	3	1	88	1	0	0	0	0	1	0	0	0	14940	1783	62	5	1888	5	SORCS3	10	106927044	Missense_Mutation	SNP	T	TCGA-DX-A7EO-01A-11D-A36J-09		106927044	28607703	17	4982											
PNLIPRP2	5408	genome.wustl.edu	37	chr10	118401628	118401628	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatgtctatattttcagagGatccctcaaaccagatgcaa	6	9	3	2			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr10:118401628G>A	ENST00000298771.7	+	0	1206				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATTTTCAGAGGATCCCTCAAA	0.348																																																	0								ENSG00000165862						43	42	43					10																	118401628		1868	4088	5956	PNLIPRP2			0			-	HGNC	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118401628G>A		Somatic	0	93	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	A8K627|Q6IB55	Missense_Mutation	SNP							pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom	p.G393E	ENST00000298771.7	37	c.1178		10	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632132	0.67015	.	.	ENSG00000165862	ENST00000537242	T	0.49432	0.78	5.7	5.7	0.88788	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.56097	D	0.000038	T	0.50103	0.1596	.	.	.	0.33503	D	0.590124	D	0.53745	0.962	P	0.54856	0.762	T	0.48151	-0.9060	9	0.09084	T	0.74	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	394	P54317	LIPR2_HUMAN	E	393	ENSP00000446346:G393E	ENSP00000446346:G393E	G	+	2	0	PNLIPRP2	118391618	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.190000	0.50973	2.706000	0.92434	0.557000	0.71058	GGA	-	pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.348	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	polymorphic_pseudogene	OTTHUMT00000050546.6	G	NM_005396	-		118401628	1	no_errors	ENST00000537242	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118401628	G	A	118401628	1	1	88	0	1	0	0	0	0	0	0	0	12153	1174	41	2		2	PNLIPRP2	10	118401628	RNA	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09	11474584	118401628	17133119	18	4983											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16863266	16863266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgcatccccgtgtgcaCagcctgtagcatgaaggcag	12	14	0	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:16863266C>T	ENST00000355661.3	-	9	710	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	PLEKHA7_ENST00000532079.1_Intron|RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.V234M|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.V234M			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCCGTGTGCACAGCCTGTAGC	0.537																																																	0								ENSG00000166689						51	44	47					11																	16863266		2200	4294	6494	PLEKHA7	SO:0001583	missense	0			-	HGNC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.700G>A	11.37:g.16863266C>T	ENSP00000347883:p.Val234Met	Somatic	0	32	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.V234M	ENST00000355661.3	37	c.700	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903584	0.72754	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.13657	2.57;2.57;2.57	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.516858	0.22386	N	0.060755	T	0.34279	0.0892	M	0.62723	1.935	0.36905	D	0.890603	P;D	0.67145	0.942;0.996	P;P	0.62014	0.772;0.897	T	0.08391	-1.0724	10	0.51188	T	0.08	-19.7327	19.2366	0.93862	0.0:1.0:0.0:0.0	.	234;234	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	M	234	ENSP00000435389:V234M;ENSP00000347883:V234M;ENSP00000416895:V234M	ENSP00000347883:V234M	V	-	1	0	PLEKHA7	16819842	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	3.959000	0.56744	2.857000	0.98124	0.650000	0.86243	GTG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	protein_coding	OTTHUMT00000387242.2	C	NM_175058	-		16863266	-1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	SNP	0.998	T	T	16863266	C	T	16863266	3	4	88	1	0	0	0	0	1	0	0	0	12063	478	17	2	2725	2	PLEKHA7	11	16863266	Missense_Mutation	SNP	C	TCGA-DX-A7EO-01A-11D-A36J-09		16863266	118143250	19	4984											
DPP3	10072	genome.wustl.edu	37	chr11	66249827	66249862	+	In_Frame_Del	DEL	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	-													ctggctgtgctgcttcagacCtcccctgaggccccctacat					rs114567543|rs34243583|rs375779987	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:66249827_66249862delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	ENST00000360510.2	+	2	221_256	c.156_191delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	c.(154-192)acctcccctgaggccccctacatctatgctctgctcagc>acc	p.SPEAPYIYALLS53del	DPP3_ENST00000453114.1_In_Frame_Del_p.SPEAPYIYALLS53del|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000532677.1_In_Frame_Del_p.SPEAPYIYALLS72del|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_In_Frame_Del_p.SPEAPYIYALLS53del|DPP3_ENST00000530165.1_In_Frame_Del_p.SPEAPYIYALLS53del|DPP3_ENST00000531863.1_In_Frame_Del_p.SPEAPYIYALLS73del|CTD-3074O7.5_ENST00000533502.1_RNA			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	53					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						TGCTTCAGACCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAGCCGCCTCTTC	0.653																																																	0								ENSG00000254986																																			DPP3	SO:0001651	inframe_deletion	0				HGNC	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.156_191delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	11.37:g.66249827_66249862delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	ENSP00000353701:p.Ser53_Ser64del	Somatic					0.49556294218954	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	In_Frame_Del	DEL							pirsf_Dipeptidyl-peptase3	p.SPEAPYIYALLS53in_frame_del	ENST00000360510.2	37	c.156_191	CCDS8141.1	11																																																																																			-	pirsf_Dipeptidyl-peptase3		0.653	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG				66249862	1	no_errors	ENST00000360510	ensembl	human	known	74_37	in_frame_del	DEL	0.253:0.995:0.998:0.972:0.992:0.976:0.006:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.854:0.865:0.996:1.000:1.000:1.000:1.000:1.000:0.999:0.962:0.999:1.000:0.997:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	66249862	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	-	66249827	7	5	88	1	0	1	0	1	0	0	0	0	4730	668	24	0	158	0	DPP3	11	66249827	In_Frame_Del	DEL	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	TCGA-DX-A7EO-01A-11D-A36J-09	49386561	66249827	68756689	20	4985			1	56		2	2	32	N	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG_-	3.204419e-05
DPP3	10072	genome.wustl.edu	37	chr11	66249858	66249859	+	Frame_Shift_Ins	INS	-	-	T													cccctacatctatgctctgcINStcagccgcctcttccgcgcc							TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:66249858_66249859insT	ENST00000360510.2	+	2	252_253	c.187_188insT	c.(187-189)ctcfs	p.L63fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.L63fs|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.L82fs|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.L63fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.L63fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.L83fs|CTD-3074O7.5_ENST00000533502.1_RNA			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	63					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						CTATGCTCTGCTCAGCCGCCTC	0.644																																																	0								ENSG00000254986																																			DPP3	SO:0001589	frameshift_variant	0				HGNC	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.188dupT	11.37:g.66249859_66249859dupT	ENSP00000353701:p.Leu63fs	Somatic	0	39	0		0.49556294218954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS							pirsf_Dipeptidyl-peptase3	p.S64fs	ENST00000360510.2	37	c.187_188	CCDS8141.1	11																																																																																			-	pirsf_Dipeptidyl-peptase3		0.644	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	-				66249859	1	no_errors	ENST00000360510	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	66249859	-	T	66249858	7	5	88	1	0	1	1	0	0	0	0	0	4730	797	28	0	189	0	DPP3	11	66249858	Frame_Shift_Ins	INS	-	TCGA-DX-A7EO-01A-11D-A36J-09	31	66249858	68756658	21	4986			1	56		2	2	32	N	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG_-	3.204419e-05
OAS2	4939	genome.wustl.edu	37	chr12	113425106	113425106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctggccgccttcaaCgctctgagtaagcattgctg	13	11	2	1	rs369863340	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr12:113425106C>T	ENST00000342315.4	+	2	655	c.441C>T	c.(439-441)aaC>aaT	p.N147N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.N147N|OAS2_ENST00000449768.2_Silent_p.N147N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	147	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													C|||	2	0.000399361	0	0.0014	5008	,	,		19067	0		0	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)												0								ENSG00000111335	C	,,	0,4406		0,0,2203	48	51	50		441,441,441	-6.3	0.1	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	147/173,147/688,147/720	113425106	1,13005	2203	4300	6503	OAS2	SO:0001819	synonymous_variant	0			-	HGNC	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.441C>T	12.37:g.113425106C>T		Somatic	0	45	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	36	41.94	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP							pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.N147	ENST00000342315.4	37	c.441	CCDS31906.1	12																																																																																			-	NULL		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	protein_coding	OTTHUMT00000405937.1	C		-		113425106	1	no_errors	ENST00000342315	ensembl	human	known	74_37	silent	SNP	0.389	T	T	113425106	C	T	113425106	2	4	88	1	0	0	0	0	0	0	0	1	10802	535	19	1		1	OAS2	12	113425106	Silent	SNP	C	TCGA-DX-A7EO-01A-11D-A36J-09		113425106	20426789	22	4987											
MTMR15	22909	genome.wustl.edu	37	chr15	31217365	31217365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggggctggcggatccGgaagtcagaacgggacaccg	17	10	1	2	rs141117593		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr15:31217365G>A	ENST00000362065.4	+	9	2499	c.2208G>A	c.(2206-2208)ccG>ccA	p.P736P	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	736					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGCGGATCCGGAAGTCAGAA	0.552								Direct reversal of damage																																									0								ENSG00000198690	A		1,4403	2.1+/-5.4	0,1,2201	46	48	47		2208	-11.4	0	15	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	FAN1	NM_014967.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		736/1018	31217365	1,13003	2202	4300	6502	FAN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2208G>A	15.37:g.31217365G>A		Somatic	0	67	0		0.49556294218954	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.43	A8K4M2|Q86WU8	Silent	SNP							pfam_VRR_NUC,smart_Znf_Rad18_put	p.P736	ENST00000362065.4	37	c.2208	CCDS32186.1	15																																																																																			-	NULL		0.552	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	protein_coding	OTTHUMT00000430740.1	G	NM_014967	rs141117593		31217365	1	no_errors	ENST00000362065	ensembl	human	known	74_37	silent	SNP	0.000	A	A	31217365	G	A	31217365	2	1	88	1	0	0	0	0	0	0	0	1	9945	1103	39	1		1	MTMR15	15	31217365	Silent	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09		31217365	71314027	23	4988											
IL27	246778	genome.wustl.edu	37	chr16	28515297	28515297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcaggctcagctgggGcctccctgggggccttggga	16	14	1	0			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr16:28515297G>A	ENST00000356897.1	-	2	128	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTCAGCTGGGGCCTCCCTGGG	0.642																																																	0								ENSG00000197272						33	37	35					16																	28515297		2197	4300	6497	IL27	SO:0001583	missense	0			-	HGNC	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"Interleukins and interleukin receptors"	19157	protein-coding gene	gene with protein product		608273	"interleukin 30"	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.106C>T	16.37:g.28515297G>A	ENSP00000349365:p.Pro36Ser	Somatic	0	98	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	72	14.29	B1AM69	Missense_Mutation	SNP							superfamily_4_helix_cytokine-like_core	p.P36S	ENST00000356897.1	37	c.106	CCDS10633.1	16	.	.	.	.	.	.	.	.	.	.	G	8.600	0.886568	0.17540	.	.	ENSG00000197272	ENST00000356897	T	0.33654	1.4	3.31	-0.043	0.13861	.	0.424701	0.17329	N	0.178218	T	0.15565	0.0375	N	0.16903	0.455	0.22330	N	0.999197	B	0.25563	0.129	B	0.18263	0.021	T	0.18053	-1.0349	10	0.19590	T	0.45	.	3.3114	0.07017	0.2273:0.0:0.5697:0.203	.	36	Q8NEV9	IL27A_HUMAN	S	36	ENSP00000349365:P36S	ENSP00000349365:P36S	P	-	1	0	IL27	28422798	0.001000	0.12720	0.965000	0.40720	0.938000	0.57974	0.160000	0.16462	-0.371000	0.08004	0.306000	0.20318	CCC	-	NULL		0.642	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27	protein_coding	OTTHUMT00000214114.1	G	NM_145659	-		28515297	-1	no_errors	ENST00000356897	ensembl	human	known	74_37	missense	SNP	0.951	A	A	28515297	G	A	28515297	3	1	88	1	0	0	0	0	1	0	0	0	7682	1203	42	2	641	2	IL27	16	28515297	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09		28515297	61839456	24	4989											
GPR114	221188	genome.wustl.edu	37	chr16	57602029	57602029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaagcttggtgtgctAggctggggtaagcacatcat	14	7	2	0			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr16:57602029A>G	ENST00000340339.4	+	9	1606	c.1083A>G	c.(1081-1083)ctA>ctG	p.L361L	GPR114_ENST00000349457.3_Silent_p.L361L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	361					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)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TTGGTGTGCTAGGCTGGGGTA	0.552																																																	0								ENSG00000159618						120	92	101					16																	57602029		2198	4300	6498	GPR114	SO:0001819	synonymous_variant	0			-	HGNC	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1083A>G	16.37:g.57602029A>G		Somatic	0	32	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.L361	ENST00000340339.4	37	c.1083	CCDS10785.1	16																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.552	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	protein_coding	OTTHUMT00000257336.3	A	NM_153837	-		57602029	1	no_errors	ENST00000340339	ensembl	human	known	74_37	silent	SNP	0.994	G	G	57602029	A	G	57602029	2	3	88	1	0	0	0	0	0	0	0	1	6633	407	15	5		5	GPR114	16	57602029	Silent	SNP	A	TCGA-DX-A7EO-01A-11D-A36J-09	29086732	57602029	32752724	25	4990											
ANKFY1	51479	genome.wustl.edu	37	chr17	4088163	4088163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatggttataggcgatcGccatgtgcagtggcgtctgc	15	10	1	0			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr17:4088163G>A	ENST00000341657.4	-	12	1684	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A550V|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A592V|Y_RNA_ENST00000516003.1_RNA	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	550					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATAGGCGATCGCCATGTGCAG	0.557																																																	0								ENSG00000185722						87	94	92					17																	4088163		2160	4253	6413	ANKFY1	SO:0001583	missense	0			-	HGNC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1649C>T	17.37:g.4088163G>A	ENSP00000343362:p.Ala550Val	Somatic	0	61	0		0.49556294218954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.A592V	ENST00000341657.4	37	c.1775		17	.	.	.	.	.	.	.	.	.	.	G	36	5.689510	0.96784	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.73897	-0.79	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.949;0.915;0.915	D	0.92924	0.6358	10	0.87932	D	0	-14.8437	18.9587	0.92670	0.0:0.0:1.0:0.0	.	491;550;550;592	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	550;491	ENSP00000343362:A550V	ENSP00000343362:A550V	A	-	2	0	ANKFY1	4034912	1.000000	0.71417	0.971000	0.41717	0.801000	0.45260	9.835000	0.99442	2.728000	0.93425	0.655000	0.94253	GCG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.557	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	protein_coding	OTTHUMT00000438702.1	G	NM_016376	-		4088163	-1	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4088163	G	A	4088163	3	1	88	1	0	0	0	0	1	0	0	0	626	1087	38	1	1919	1	ANKFY1	17	4088163	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09		4088163	77107047	26	4991											
CHD3	1107	genome.wustl.edu	37	chr17	7802799	7802799	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagccgggccatcattcgtGagaatgaattctcctttgag	10	10	2	3			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr17:7802799G>T	ENST00000330494.7	+	15	2632	c.2482G>T	c.(2482-2484)Gag>Tag	p.E828*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.E887*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E828*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	828	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCATTCGTGAGAATGAATT	0.483																																																	0								ENSG00000170004						131	128	129					17																	7802799		2203	4300	6503	CHD3	SO:0001587	stop_gained	0			-	HGNC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2482G>T	17.37:g.7802799G>T	ENSP00000332628:p.Glu828*	Somatic	0	42	0		0.49556294218954	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E828*	ENST00000330494.7	37	c.2482	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	40	7.919312	0.98560	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	5.1	5.1	0.69264	.	0.000000	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-35.2494	19.0554	0.93062	0.0:0.0:1.0:0.0	.	.	.	.	X	887;828;828	.	ENSP00000332628:E828X	E	+	1	0	CHD3	7743524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	GAG	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.483	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	G	NM_001005273	-		7802799	1	no_errors	ENST00000330494	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	7802799	G	T	7802799	4	4	88	1	0	0	0	0	0	1	0	0	3328	1291	45	3	2821	3	CHD3	17	7802799	Nonsense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09	3714636	7802799	73392411	27	4992											
OR1I1	126370	genome.wustl.edu	37	chr19	15198749	15198749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacccctttatctacagCatacggaacaaggatatgaa	6	11	2	1			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:15198749C>T	ENST00000209540.2	+	1	959	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TTATCTACAGCATACGGAACA	0.537																																																	0								ENSG00000094661						113	98	103					19																	15198749		2203	4300	6503	OR1I1	SO:0001819	synonymous_variant	0			-	HGNC	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.873C>T	19.37:g.15198749C>T		Somatic	0	45	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	Q96R92	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S291	ENST00000209540.2	37	c.873	CCDS32937.1	19																																																																																			-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.537	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	protein_coding	OTTHUMT00000465665.1	C		-		15198749	1	no_errors	ENST00000209540	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15198749	C	T	15198749	2	4	88	1	0	0	0	0	0	0	0	1	10960	709	25	2		2	OR1I1	19	15198749	Silent	SNP	C	TCGA-DX-A7EO-01A-11D-A36J-09		15198749	43930234	28	4993											
ETFB	2109	genome.wustl.edu	37	chr19	51857627	51857627	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggtgggggcctcagcGccaaccctctcccaggctgg	14	14	2	1	rs143544475	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:51857627G>A	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000354232.4_Missense_Mutation_p.A89V	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGGCCTCAGCGccaaccctct	0.632																																																	0								ENSG00000105379	G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	53	52	52		266,	-9	0	19	dbSNP_134	52	0,8600		0,0,4300	no	missense,intron	ETFB	NM_001014763.1,NM_001985.2	64,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,	89/347,	51857627	2,13004	2203	4300	6503	ETFB	SO:0001627	intron_variant	0			-	HGNC	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-65C>T	19.37:g.51857627G>A		Somatic	0	46	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP							pfam_ETF_a/b_N,smart_ETF_a/b_N	p.A89V	ENST00000309244.4	37	c.266	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	g	5.385	0.256283	0.10185	4.54E-4	0.0	ENSG00000105379	ENST00000354232	D	0.83914	-1.78	4.49	-8.98	0.00754	.	.	.	.	.	T	0.63450	0.2512	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47560	-0.9108	7	.	.	.	.	8.449	0.32860	0.5027:0.3795:0.1179:0.0	.	89	P38117-2	.	V	89	ENSP00000346173:A89V	.	A	-	2	0	ETFB	56549439	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.673000	0.01951	-1.511000	0.01794	-1.634000	0.00779	GCG	-	NULL		0.632	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	protein_coding	OTTHUMT00000464273.1	G		rs143544475		51857627	-1	no_errors	ENST00000354232	ensembl	human	known	74_37	missense	SNP	0.000	A	A	51857627	G	A	51857627	1	1	88	0	1	0	0	0	0	0	0	0	5272	1087	38	1		1	ETFB	19	51857627	Intron	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09	36658878	51857627	7271356	29	4994											
NLRP9	338321	genome.wustl.edu	37	chr19	56223940	56223940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacaggaatcggaagtaaGgaaacagcccatcaacctgg	10	10	1	0			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:56223940G>T	ENST00000332836.2	-	7	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	840						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGGAAGTAAGGAAACAGCCC	0.423																																																	0								ENSG00000185792						78	72	74					19																	56223940		2200	4291	6491	NLRP9	SO:0001583	missense	0			-	HGNC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2518C>A	19.37:g.56223940G>T	ENSP00000331857:p.Leu840Ile	Somatic	0	46	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RN12|Q86W27	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L840I	ENST00000332836.2	37	c.2518	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046056	0.19748	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.53423	0.62	4.0	-0.935	0.10423	.	.	.	.	.	T	0.31263	0.0791	L	0.53561	1.675	0.09310	N	1	B	0.31931	0.347	B	0.32393	0.145	T	0.29366	-1.0014	9	0.05620	T	0.96	.	3.2488	0.06807	0.2064:0.0:0.4336:0.36	.	840	Q7RTR0	NALP9_HUMAN	I	840	ENSP00000331857:L840I	ENSP00000331857:L840I	L	-	1	0	NLRP9	60915752	0.076000	0.21285	0.001000	0.08648	0.005000	0.04900	-0.080000	0.11339	-0.105000	0.12132	0.638000	0.83543	CTT	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.423	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	protein_coding	OTTHUMT00000453653.1	G	NM_176820	-		56223940	-1	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	SNP	0.001	T	T	56223940	G	T	56223940	3	4	88	1	0	0	0	0	1	0	0	0	10486	1000	35	3	469	3	NLRP9	19	56223940	Missense_Mutation	SNP	G	TCGA-DX-A7EO-01A-11D-A36J-09	4366313	56223940	2905043	30	4995											
NXT2	55916	genome.wustl.edu	37	chrX	108781279	108781279	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatttttcttgtaggatttTaaaacttatgtagatcaggc	8	4	2	1	rs34213752		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chrX:108781279T>A	ENST00000372106.1	+	2	152	c.21T>A	c.(19-21)ttT>ttA	p.F7L	NXT2_ENST00000372103.1_5'UTR|NXT2_ENST00000218004.1_Missense_Mutation_p.F62L|NXT2_ENST00000372107.1_5'UTR	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	7					mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGTAGGATTTTAAAACTTATG	0.363																																																	0								ENSG00000101888						111	110	110					X																	108781279		2203	4300	6503	NXT2	SO:0001583	missense	0			-	HGNC	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.21T>A	X.37:g.108781279T>A	ENSP00000361178:p.Phe7Leu	Somatic	0	86	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	64	49.61	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP							pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.F62L	ENST00000372106.1	37	c.186	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637768	0.29157	.	.	ENSG00000101888	ENST00000218004;ENST00000372106	.	.	.	4.75	3.58	0.41010	.	0.098140	0.64402	D	0.000001	T	0.48021	0.1477	L	0.28458	0.855	0.80722	D	1	D;P	0.55800	0.973;0.767	P;B	0.56278	0.795;0.398	T	0.36089	-0.9762	9	0.25106	T	0.35	.	5.9762	0.19379	0.0:0.2182:0.0:0.7818	.	7;62	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	L	62;7	.	ENSP00000218004:F62L	F	+	3	2	NXT2	108667935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.815000	0.55651	0.719000	0.32188	0.486000	0.48141	TTT	-	NULL		0.363	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	protein_coding	OTTHUMT00000057886.1	T	NM_018698	-		108781279	1	no_errors	ENST00000218004	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108781279	T	A	108781279	3	1	88	1	0	0	0	0	1	0	0	0	10797	1751	61	5	196	5	NXT2	23	108781279	Missense_Mutation	SNP	T	TCGA-DX-A7EO-01A-11D-A36J-09		108781279	46489281	31	4996											
F8	2157	genome.wustl.edu	37	chrX	154158427	154158428	+	Frame_Shift_Ins	INS	-	-	T													cttttctatttcttcctgaaINStttttttttcttgattgtgt					rs387906450		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chrX:154158427_154158428insT	ENST00000360256.4	-	14	3837_3838	c.3637_3638insA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTCCTGAATTTTTTTTTCT	0.327																																																	0			GRCh37	CD930955|CI962274	F8	D|I		ENSG00000185010																																			F8	SO:0001589	frameshift_variant	0				HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3638dupA	X.37:g.154158436_154158436dupT	ENSP00000353393:p.Ile1213fs	Somatic	0	37	0		0.49556294218954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q14286|Q5HY69	Frame_Shift_Ins	INS							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I1213fs	ENST00000360256.4	37	c.3638_3637	CCDS35457.1	X																																																																																			-	NULL		0.327	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	-				154158428	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	frame_shift_ins	INS	0.011:0.000	T	T	154158428	-	T	154158427	7	5	88	1	0	1	1	0	0	0	0	0	5352	101	4	0	3497	0	F8	23	154158427	Frame_Shift_Ins	INS	-	TCGA-DX-A7EO-01A-11D-A36J-09	45377148	154158427	1112133	32	4997											
KIF1B	23095	genome.wustl.edu	37	chr1	10403307	10403307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccgcctcagccgtgccGccgattcttccctccaccca	7	21	2	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:10403307G>A	ENST00000377086.1	+	34	3852	c.3650G>A	c.(3649-3651)cGc>cAc	p.R1217H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1171H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1217H			O60333	KIF1B_HUMAN	kinesin family member 1B	1217					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCCGTGCCGCCGATTCTTC	0.448																																																	0								ENSG00000054523						94	93	94					1																	10403307		2203	4300	6503	KIF1B	SO:0001583	missense	0			-	HGNC	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3650G>A	1.37:g.10403307G>A	ENSP00000366290:p.Arg1217His	Somatic	0	71	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	65	17.72	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1171H	ENST00000377086.1	37	c.3512		1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124080	0.56613	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.79141	-1.24;-1.24;-1.24	4.78	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;P;D	0.87578	0.985;0.931;0.998;0.997;0.854;0.989	D	0.87886	0.2681	10	0.72032	D	0.01	.	15.299	0.73931	0.0:0.1407:0.8593:0.0	.	1203;1177;1217;1191;1217;1171	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1217;1171;1217;1217	ENSP00000263934:R1171H;ENSP00000366290:R1217H;ENSP00000366284:R1217H	ENSP00000263934:R1171H	R	+	2	0	KIF1B	10325894	1.000000	0.71417	0.344000	0.25628	0.157000	0.22087	7.444000	0.80532	1.140000	0.42260	0.655000	0.94253	CGC	-	NULL		0.448	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	protein_coding	OTTHUMT00000005102.1	G		-		10403307	1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	SNP	0.999	A	A	10403307	G	A	10403307	3	1	89	1	0	0	0	0	1	0	0	0	8286	1087	38	1	5123	1	KIF1B	1	10403307	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		10403307	238847314	1	4998											
UBXN10	127733	genome.wustl.edu	37	chr1	20517676	20517676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgttagatcaccaacaGgccaaaggtttgtacgccat	9	10	1	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:20517676G>T	ENST00000375099.3	+	2	706	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	208	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						ATCACCAACAGGCCAAAGGTT	0.502																																																	0								ENSG00000162543						118	114	115					1																	20517676		2203	4300	6503	UBXN10	SO:0001583	missense	0			-	HGNC	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.622G>T	1.37:g.20517676G>T	ENSP00000364240:p.Gly208Cys	Somatic	0	32	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q5R386	Missense_Mutation	SNP							pfam_UBX,smart_UBX,pfscan_UBX	p.G208C	ENST00000375099.3	37	c.622	CCDS205.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232147	0.79688	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.92	4.92	0.64577	UBX (3);	0.000000	0.64402	D	0.000008	T	0.79770	0.4503	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82532	-0.0410	9	0.87932	D	0	-23.464	16.8349	0.85954	0.0:0.0:1.0:0.0	.	208	Q96LJ8	UBX10_HUMAN	C	208	.	ENSP00000364240:G208C	G	+	1	0	UBXN10	20390263	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	8.602000	0.90868	2.543000	0.85770	0.591000	0.81541	GGC	-	pfam_UBX,smart_UBX,pfscan_UBX		0.502	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN10	protein_coding	OTTHUMT00000007693.1	G	NM_152376	-		20517676	1	no_errors	ENST00000375099	ensembl	human	known	74_37	missense	SNP	0.999	T	T	20517676	G	T	20517676	3	4	89	1	0	0	0	0	1	0	0	0	16919	1000	35	3	624	3	UBXN10	1	20517676	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	10114369	20517676	228732945	2	4999											
CCDC23	374969	genome.wustl.edu	37	chr1	43273167	43273167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgactctgttgagggcaTagatctgaatgagagaaaga	12	5	3	7			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:43273167T>C	ENST00000372521.4	-	3	217	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	CCDC23_ENST00000372522.1_Missense_Mutation_p.Y40C|CCDC23_ENST00000537227.1_Missense_Mutation_p.Y40C	NM_199342.3	NP_955374.1	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23	40					negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein ubiquitination (GO:0031397)|protein secretion (GO:0009306)	apical part of cell (GO:0045177)				large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTTGAGGGCATAGATCTGAAT	0.458																																																	0								ENSG00000177868						122	119	120					1																	43273167		2203	4300	6503	CCDC23	SO:0001583	missense	0			-	HGNC	AL512353, CAH72714	CCDS474.1	1p34.2	2008-02-05			ENSG00000177868	ENSG00000177868			29204	protein-coding gene	gene with protein product							Standard	NM_199342		Approved	MGC45441	uc001cib.2	Q8N300	OTTHUMG00000007566	ENST00000372521.4:c.119A>G	1.37:g.43273167T>C	ENSP00000361599:p.Tyr40Cys	Somatic	0	54	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	57	9.52	A8K5P1|D3DPW7	Missense_Mutation	SNP							NULL	p.Y40C	ENST00000372521.4	37	c.119	CCDS474.1	1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073654	0.55646	.	.	ENSG00000177868	ENST00000372522;ENST00000372521;ENST00000537227	.	.	.	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000035	T	0.78698	0.4324	.	.	.	0.46798	D	0.999208	D	0.89917	1.0	D	0.83275	0.996	T	0.81391	-0.0954	8	0.87932	D	0	.	12.6933	0.56988	0.0:0.0:0.0:1.0	.	40	Q8N300	CCD23_HUMAN	C	40	.	ENSP00000361599:Y40C	Y	-	2	0	CCDC23	43045754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.674000	0.68117	2.239000	0.73571	0.533000	0.62120	TAT	-	NULL		0.458	CCDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC23	protein_coding	OTTHUMT00000019997.1	T	NM_199342	-		43273167	-1	no_errors	ENST00000372521	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43273167	T	C	43273167	3	2	89	1	0	0	0	0	1	0	0	0	2800	1406	49	5	85	5	CCDC23	1	43273167	Missense_Mutation	SNP	T	TCGA-DX-A7EQ-01A-11D-A387-09	22755491	43273167	205977454	3	5000											
COL24A1	255631	genome.wustl.edu	37	chr1	86362070	86362070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtataccttgttcccctaagAgaccatctggtcctcttgat	7	12	2	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:86362070A>G	ENST00000370571.2	-	29	3167	c.2801T>C	c.(2800-2802)cTc>cCc	p.L934P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L934P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	934	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCCTAAGAGACCATCTGG	0.333																																																	0								ENSG00000171502						116	109	111					1																	86362070		1829	4082	5911	COL24A1	SO:0001583	missense	0			-	HGNC	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2801T>C	1.37:g.86362070A>G	ENSP00000359603:p.Leu934Pro	Somatic	0	40	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.L934P	ENST00000370571.2	37	c.2801	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	A	9.110	1.006262	0.19199	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.89875	-2.58;-1.96	5.46	4.33	0.51752	.	2.339190	0.02353	N	0.076112	T	0.59293	0.2183	N	0.01771	-0.73	0.49687	D	0.999813	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.35101	-0.9802	10	0.22706	T	0.39	.	8.3653	0.32382	0.8385:0.0:0.1615:0.0	.	934;934	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	P	934	ENSP00000359603:L934P;ENSP00000392531:L934P	ENSP00000359603:L934P	L	-	2	0	COL24A1	86134658	0.999000	0.42202	0.967000	0.41034	0.991000	0.79684	2.817000	0.48034	0.904000	0.36572	0.533000	0.62120	CTC	-	NULL		0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	protein_coding	OTTHUMT00000029335.4	A	NM_152890	-		86362070	-1	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	SNP	0.989	G	G	86362070	A	G	86362070	3	3	89	1	0	0	0	0	1	0	0	0	3685	304	11	5	2471	5	COL24A1	1	86362070	Missense_Mutation	SNP	A	TCGA-DX-A7EQ-01A-11D-A387-09	43088903	86362070	162888551	4	5001											
HIPK1	204851	genome.wustl.edu	37	chr1	114506024	114506024	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggaagctgtacaccaCtaatggtagcaactctccac	8	12	2	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:114506024C>A	ENST00000369558.1	+	10	2351	c.2119C>A	c.(2119-2121)Cta>Ata	p.L707I	HIPK1_ENST00000369553.1_Missense_Mutation_p.L313I|HIPK1_ENST00000426820.2_Missense_Mutation_p.L707I|HIPK1_ENST00000369559.4_Missense_Mutation_p.L707I|HIPK1_ENST00000406344.1_Missense_Mutation_p.L313I|HIPK1_ENST00000369561.4_Missense_Mutation_p.L673I|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000340480.4_Missense_Mutation_p.L333I|HIPK1_ENST00000369554.2_Intron			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	707					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		CTGTACACCACTAATGGTAGC	0.547																																																	0								ENSG00000163349						80	75	77					1																	114506024		2203	4300	6503	HIPK1	SO:0001583	missense	0			-	HGNC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2119C>A	1.37:g.114506024C>A	ENSP00000358571:p.Leu707Ile	Somatic	0	100	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	58	42.00	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L707I	ENST00000369558.1	37	c.2119	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992570	0.74703	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T	0.54071	0.66;0.68;0.71;0.71;0.59;3.72;2.79;2.79	5.51	5.51	0.81932	.	0.000000	0.45361	D	0.000363	T	0.47078	0.1426	N	0.14661	0.345	0.80722	D	1	B;D;D	0.67145	0.138;0.993;0.996	B;D;D	0.72625	0.022;0.952;0.978	T	0.38542	-0.9656	10	0.20046	T	0.44	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	313;707;707	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	I	778;707;707;707;673;333;313;313	ENSP00000407442:L778I;ENSP00000358572:L707I;ENSP00000409673:L707I;ENSP00000358571:L707I;ENSP00000358574:L673I;ENSP00000340956:L333I;ENSP00000358566:L313I;ENSP00000384960:L313I	ENSP00000340956:L333I	L	+	1	2	HIPK1	114307547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.756000	0.94617	0.655000	0.94253	CTA	-	NULL		0.547	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	protein_coding	OTTHUMT00000033127.1	C	NM_198268	-		114506024	1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114506024	C	A	114506024	3	1	89	1	0	0	0	0	1	0	0	0	7118	564	20	3	2171	3	HIPK1	1	114506024	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	28143954	114506024	134744597	5	5002											
SLC26A9	115019	genome.wustl.edu	37	chr1	205897159	205897159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccactgtgagaccacaggCgacaccggggtggggaacct	14	12	0	1	rs147218911		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:205897159C>T	ENST00000367135.3	-	9	1085	c.972G>A	c.(970-972)tcG>tcA	p.S324S	SLC26A9_ENST00000367134.2_Silent_p.S324S|SLC26A9_ENST00000340781.4_Silent_p.S324S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGACCACAGGCGACACCGGGG	0.627																																																	0								ENSG00000174502	C	,	1,4405	2.1+/-5.4	0,1,2202	50	46	48		972,972	-5.5	0	1	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	324/792,324/888	205897159	1,13005	2203	4300	6503	SLC26A9	SO:0001819	synonymous_variant	0			-	HGNC	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.972G>A	1.37:g.205897159C>T		Somatic	0	59	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	45.28	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S324	ENST00000367135.3	37	c.972	CCDS30990.1	1																																																																																			-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.627	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	protein_coding	OTTHUMT00000087742.1	C	NM_052934	rs147218911		205897159	-1	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	SNP	0.001	T	T	205897159	C	T	205897159	2	4	89	1	0	0	0	0	0	0	0	1	14532	755	27	1		1	SLC26A9	1	205897159	Silent	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	91391135	205897159	43353462	6	5003											
EHBP1	23301	genome.wustl.edu	37	chr2	63175630	63175630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatcaagaaaaattctAtgcagagcttagtgatctga	9	5	3	5			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:63175630A>G	ENST00000263991.5	+	14	2236	c.1754A>G	c.(1753-1755)tAt>tGt	p.Y585C	EHBP1_ENST00000354487.3_Missense_Mutation_p.Y550C|EHBP1_ENST00000405289.1_Missense_Mutation_p.Y550C|EHBP1_ENST00000431489.1_Missense_Mutation_p.Y550C|EHBP1_ENST00000405015.3_Missense_Mutation_p.Y550C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	585						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAAATTCTATGCAGAGCTT	0.383																																																	0								ENSG00000115504						65	66	65					2																	63175630		2203	4300	6503	EHBP1	SO:0001583	missense	0			-	HGNC	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1754A>G	2.37:g.63175630A>G	ENSP00000263991:p.Tyr585Cys	Somatic	0	32	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Y585C	ENST00000263991.5	37	c.1754	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156972	0.57259	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.75821	-0.97;-0.97;-0.96;-0.95;-0.95	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83682	0.0172	10	0.40728	T	0.16	.	16.0152	0.80434	1.0:0.0:0.0:0.0	.	550;550;585	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	C	550;550;585;550;550	ENSP00000384143:Y550C;ENSP00000403783:Y550C;ENSP00000263991:Y585C;ENSP00000346482:Y550C;ENSP00000385524:Y550C	ENSP00000263991:Y585C	Y	+	2	0	EHBP1	63029134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.829000	0.92055	2.180000	0.69256	0.533000	0.62120	TAT	-	NULL		0.383	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	protein_coding	OTTHUMT00000251616.1	A	NM_015252	-		63175630	1	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	SNP	1.000	G	G	63175630	A	G	63175630	3	3	89	1	0	0	0	0	1	0	0	0	4977	449	16	5	1804	5	EHBP1	2	63175630	Missense_Mutation	SNP	A	TCGA-DX-A7EQ-01A-11D-A387-09		63175630	180023743	7	5004											
ZNF2	7549	genome.wustl.edu	37	chr2	95847067	95847067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacggtcagccctgtccaGggaaattctcactaaagaga	11	11	2	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:95847067G>A	ENST00000340539.5	+	5	956	c.494G>A	c.(493-495)aGg>aAg	p.R165K	ZNF2_ENST00000295210.6_Missense_Mutation_p.R127K|ZNF2_ENST00000398107.2_Missense_Mutation_p.R123K|ZNF2_ENST00000453539.2_Missense_Mutation_p.R178K|ZNF2_ENST00000425369.1_Missense_Mutation_p.R85K	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	165					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GCCCTGTCCAGGGAAATTCTC	0.557																																																	0								ENSG00000163067						54	62	59					2																	95847067		2061	4234	6295	ZNF2	SO:0001583	missense	0			-	HGNC	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.494G>A	2.37:g.95847067G>A	ENSP00000345392:p.Arg165Lys	Somatic	0	122	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	76	32.46	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R165K	ENST00000340539.5	37	c.494	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227413	0.06022	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.05580	3.42;3.57;3.46;3.56;3.55	5.53	0.347	0.16022	.	0.435365	0.19871	N	0.104195	T	0.03434	0.0099	N	0.12182	0.205	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	0.39482	-0.9612	10	0.44086	T	0.13	-11.3356	7.5837	0.27980	0.6512:0.0:0.3488:0.0	.	127;123;164	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	K	123;165;85;127;178	ENSP00000381178:R123K;ENSP00000345392:R165K;ENSP00000406017:R85K;ENSP00000295210:R127K;ENSP00000411051:R178K	ENSP00000295210:R127K	R	+	2	0	ZNF2	95210794	0.038000	0.19896	0.009000	0.14445	0.005000	0.04900	0.183000	0.16919	-0.035000	0.13691	-0.290000	0.09829	AGG	-	NULL		0.557	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	protein_coding	OTTHUMT00000338595.2	G	NM_021088	-		95847067	1	no_errors	ENST00000340539	ensembl	human	known	74_37	missense	SNP	0.427	A	A	95847067	G	A	95847067	3	1	89	1	0	0	0	0	1	0	0	0	17767	1000	35	2	508	2	ZNF2	2	95847067	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	32671437	95847067	147352306	8	5005											
TTN	7273	genome.wustl.edu	37	chr2	179435239	179435239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaacaggtccttcaggtGgccctggtctgtcaagaacc	10	12	3	1	rs72646900		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:179435239G>A	ENST00000591111.1	-	276	70921	c.70697C>T	c.(70696-70698)cCa>cTa	p.P23566L	TTN_ENST00000589042.1_Missense_Mutation_p.P25207L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16334L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22639L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16267L|TTN_ENST00000460472.2_Missense_Mutation_p.P16142L|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23566	Fibronectin type-III 71. {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)			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)			TCCTTCAGGTGGCCCTGGTCT	0.448																																																	0								ENSG00000155657						58	55	56					2																	179435239		1938	4131	6069	TTN	SO:0001583	missense	0			-	HGNC	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.70697C>T	2.37:g.179435239G>A	ENSP00000465570:p.Pro23566Leu	Somatic	0	46	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P22639L	ENST00000591111.1	37	c.67916		2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981253	0.34942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.27	4.39	0.52855	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79435	0.4445	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.55749	0.783;0.783;0.783;0.783	D	0.86742	0.1955	9	0.87932	D	0	.	15.7021	0.77549	0.0:0.0:0.862:0.138	.	16142;16267;16334;23566	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22639;16142;16334;16267;16140	ENSP00000343764:P22639L;ENSP00000434586:P16142L;ENSP00000340554:P16334L;ENSP00000352154:P16267L	ENSP00000340554:P16334L	P	-	2	0	TTN	179143485	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.518000	0.73764	1.337000	0.45525	0.650000	0.86243	CCA	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179435239	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179435239	G	A	179435239	3	1	89	1	0	0	0	0	1	0	0	0	16742	1348	47	2	32507	2	TTN	2	179435239	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	83588172	179435239	63764134	9	5006											
BOLL	66037	genome.wustl.edu	37	chr2	198607837	198607837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagtgatggcacttggaGcataaacctggtgatatgtt	12	6	0	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:198607837G>A	ENST00000392296.4	-	10	1085	c.776C>T	c.(775-777)gCt>gTt	p.A259V	BOLL_ENST00000321801.7_Missense_Mutation_p.A271V|BOLL_ENST00000430004.1_Missense_Mutation_p.A281V|BOLL_ENST00000282278.8_Missense_Mutation_p.A150V|BOLL_ENST00000433157.1_Missense_Mutation_p.A259V|AC011997.1_ENST00000409845.1_Intron	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	259					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						GGCACTTGGAGCATAAACCTG	0.343																																																	0								ENSG00000152430						83	82	82					2																	198607837		2203	4300	6503	BOLL	SO:0001583	missense	0			-	HGNC		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.776C>T	2.37:g.198607837G>A	ENSP00000376116:p.Ala259Val	Somatic	0	43	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	4	66.67	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP							pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.A271V	ENST00000392296.4	37	c.812	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442326	0.63067	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.28255	1.62;1.79;1.79;1.79	5.25	5.25	0.73442	.	0.155243	0.43416	D	0.000570	T	0.26376	0.0644	N	0.19112	0.55	0.32582	N	0.528316	P;P;B;B;B	0.48089	0.51;0.905;0.29;0.19;0.137	B;B;B;B;B	0.44044	0.197;0.439;0.13;0.068;0.057	T	0.28964	-1.0027	10	0.66056	D	0.02	.	16.7967	0.85604	0.0:0.0:1.0:0.0	.	150;287;271;259;265	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	V	281;259;271;150;259	ENSP00000397711:A281V;ENSP00000376116:A259V;ENSP00000314792:A271V;ENSP00000396099:A259V	ENSP00000282278:A150V	A	-	2	0	BOLL	198316082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.555000	0.67301	2.722000	0.93159	0.561000	0.74099	GCT	-	NULL		0.343	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	protein_coding	OTTHUMT00000256107.3	G	NM_033030	-		198607837	-1	no_errors	ENST00000321801	ensembl	human	known	74_37	missense	SNP	1.000	A	A	198607837	G	A	198607837	3	1	89	1	0	0	0	0	1	0	0	0	1489	971	34	2	83	2	BOLL	2	198607837	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	19172598	198607837	44591536	10	5007											
NMUR1	10316	genome.wustl.edu	37	chr2	232393509	232393509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcccattgcccacagCgcccaccacgaagatcagca	9	17	2	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:232393509C>T	ENST00000305141.4	-	2	356	c.223G>A	c.(223-225)Gct>Act	p.A75T		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	75					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTGCCCACAGCGCCCACCACG	0.607																																																	0								ENSG00000171596						82	67	72					2																	232393509		2203	4300	6503	NMUR1	SO:0001583	missense	0			-	HGNC	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.223G>A	2.37:g.232393509C>T	ENSP00000305877:p.Ala75Thr	Somatic	0	39	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.A75T	ENST00000305141.4	37	c.223	CCDS2486.1	2	.	.	.	.	.	.	.	.	.	.	c	6.073	0.381763	0.11524	.	.	ENSG00000171596	ENST00000305141	T	0.36699	1.24	5.21	-5.38	0.02673	.	0.646253	0.16401	N	0.216013	T	0.22936	0.0554	L	0.31845	0.965	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.04440	-1.0951	10	0.39692	T	0.17	-3.6879	12.3279	0.55022	0.0:0.4003:0.0:0.5997	.	75	Q9HB89	NMUR1_HUMAN	T	75	ENSP00000305877:A75T	ENSP00000305877:A75T	A	-	1	0	NMUR1	232101753	0.231000	0.23751	0.004000	0.12327	0.038000	0.13279	0.478000	0.22212	-1.524000	0.01764	-0.266000	0.10368	GCT	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.607	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR1	protein_coding	OTTHUMT00000256961.1	C	NM_006056	-		232393509	-1	no_errors	ENST00000305141	ensembl	human	known	74_37	missense	SNP	0.166	T	T	232393509	C	T	232393509	3	4	89	1	0	0	0	0	1	0	0	0	10508	768	27	1	1065	1	NMUR1	2	232393509	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	33785672	232393509	10805864	11	5008											
STAG1	10274	genome.wustl.edu	37	chr3	136261014	136261014	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgcattctgcatatttcGaaacatctctattctcacag	4	11	4	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr3:136261014G>A	ENST00000383202.2	-	6	674	c.418C>T	c.(418-420)Cga>Tga	p.R140*	STAG1_ENST00000236698.5_Nonsense_Mutation_p.R140*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R140*|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	140					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGCATATTTCGAAACATCTCT	0.313																																																	0								ENSG00000118007						139	134	136					3																	136261014		2202	4287	6489	STAG1	SO:0001587	stop_gained	0			-	HGNC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.418C>T	3.37:g.136261014G>A	ENSP00000372689:p.Arg140*	Somatic	0	59	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	14.00	O00539|Q6P275	Nonsense_Mutation	SNP							pfam_STAG,superfamily_ARM-type_fold	p.R140*	ENST00000383202.2	37	c.418	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.884418	0.97062	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	.	.	.	5.06	4.05	0.47172	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.5368	0.45009	0.0:0.0:0.5947:0.4053	.	.	.	.	X	140	.	ENSP00000236698:R140X	R	-	1	2	STAG1	137743704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.766000	0.47629	2.501000	0.84356	0.462000	0.41574	CGA	-	NULL		0.313	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	G	NM_005862	-		136261014	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	136261014	G	A	136261014	4	1	89	1	0	0	0	0	0	1	0	0	15249	1066	37	1	3474	1	STAG1	3	136261014	Nonsense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		136261014	61761416	12	5009											
ANK2	287	genome.wustl.edu	37	chr4	114288730	114288730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcctttagggttctcgGtacttcaagaggagttatgc	11	8	3	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr4:114288730G>A	ENST00000357077.4	+	42	11094	c.11041G>A	c.(11041-11043)Gta>Ata	p.V3681I	ANK2_ENST00000264366.6_Missense_Mutation_p.V3648I|ANK2_ENST00000510275.2_Missense_Mutation_p.V248I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1596I|ANK2_ENST00000506722.1_Missense_Mutation_p.V1587I|ANK2_ENST00000509550.1_Missense_Mutation_p.V772I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3681					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)		AGGGTTCTCGGTACTTCAAGA	0.363																																																	0								ENSG00000145362						69	69	69					4																	114288730		2203	4300	6503	ANK2	SO:0001583	missense	0			-	HGNC	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.11041G>A	4.37:g.114288730G>A	ENSP00000349588:p.Val3681Ile	Somatic	0	49	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.V3681I	ENST00000357077.4	37	c.11041	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.885231|1.885231	0.33255|0.33255	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96200	.|-0.27;-0.25;-0.29;-0.3;-1.02;-2.01;-3.94	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.49305	.|D	.|0.000151	D|D	0.94506|0.94506	0.8231|0.8231	L|L	0.59436|0.59436	1.845|1.845	0.18873|0.18873	N|N	0.999987|0.999987	.|B;B;P;B;P;B	.|0.39480	.|0.146;0.442;0.524;0.217;0.675;0.363	.|B;B;B;B;B;B	.|0.39840	.|0.057;0.219;0.095;0.098;0.311;0.281	D|D	0.88774|0.88774	0.3266|0.3266	5|10	.|0.36615	.|T	.|0.2	.|.	19.6306|19.6306	0.95700|0.95700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|772;631;597;1596;3681;1587	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	D|I	597|1587;631;1596;3681;3648;1587;772;248;691	.|ENSP00000421067:V1587I;ENSP00000378044:V1596I;ENSP00000349588:V3681I;ENSP00000264366:V3648I;ENSP00000426944:V772I;ENSP00000421023:V248I;ENSP00000422498:V691I	.|ENSP00000264366:V3648I	G|V	+|+	2|1	0|0	ANK2|ANK2	114508179|114508179	0.930000|0.930000	0.31532|0.31532	0.227000|0.227000	0.23927|0.23927	0.623000|0.623000	0.37688|0.37688	3.690000|3.690000	0.54713|0.54713	2.647000|2.647000	0.89833|0.89833	0.484000|0.484000	0.47621|0.47621	GGT|GTA	-	NULL		0.363	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	G	NM_001148	-		114288730	1	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	SNP	0.168	A	A	114288730	G	A	114288730	3	1	89	1	0	0	0	0	1	0	0	0	621	1261	44	2	11272	2	ANK2	4	114288730	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		114288730	76865546	13	5010											
RICTOR	253260	genome.wustl.edu	37	chr5	38982076	38982076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgacttaattggcaatcgaTcacatttttcaagatggtgt	8	7	2	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:38982076T>G	ENST00000357387.3	-	8	676	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	RICTOR_ENST00000296782.5_Missense_Mutation_p.I216L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGGCAATCGATCACATTTTTC	0.388																																																	0								ENSG00000164327						151	159	156					5																	38982076		2203	4300	6503	RICTOR	SO:0001583	missense	0			-	HGNC		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.646A>C	5.37:g.38982076T>G	ENSP00000349959:p.Ile216Leu	Somatic	0	105	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	79	34.17		Missense_Mutation	SNP							superfamily_ARM-type_fold	p.I216L	ENST00000357387.3	37	c.646	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121570	0.20877	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.63744	-0.06;-0.06;-0.06	4.98	4.98	0.66077	Armadillo-like helical (1);Armadillo-type fold (1);	0.100558	0.64402	D	0.000003	T	0.61286	0.2335	N	0.05414	-0.055	0.80722	D	1	P;B;B;P	0.51147	0.942;0.034;0.066;0.942	D;B;B;D	0.64595	0.927;0.023;0.024;0.927	T	0.70579	-0.4833	10	0.87932	D	0	-6.2934	14.6687	0.68929	0.0:0.0:0.0:1.0	.	216;216;216;216	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	L	216;216;200	ENSP00000349959:I216L;ENSP00000296782:I216L;ENSP00000423162:I200L	ENSP00000296782:I216L	I	-	1	0	RICTOR	39017833	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.551000	0.82182	1.864000	0.54056	0.383000	0.25322	ATC	-	superfamily_ARM-type_fold		0.388	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	protein_coding	OTTHUMT00000366985.1	T	NM_152756	-		38982076	-1	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38982076	T	G	38982076	3	3	89	1	0	0	0	0	1	0	0	0	13366	1435	50	5	4604	5	RICTOR	5	38982076	Missense_Mutation	SNP	T	TCGA-DX-A7EQ-01A-11D-A387-09		38982076	141933184	14	5011											
BRD8	10902	genome.wustl.edu	37	chr5	137502401	137502401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccagcttctaaaagccggGaaagagtgggagcacctaac	12	10	1	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:137502401G>A	ENST00000254900.5	-	10	1174	c.803C>T	c.(802-804)tCc>tTc	p.S268F	BRD8_ENST00000230901.5_Missense_Mutation_p.S341F|BRD8_ENST00000455658.2_Missense_Mutation_p.S227F|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Missense_Mutation_p.S268F	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	268					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAAAAGCCGGGAAAGAGTGGG	0.433																																																	0								ENSG00000112983						50	43	45					5																	137502401		2203	4300	6503	BRD8	SO:0001583	missense	0			-	HGNC	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.803C>T	5.37:g.137502401G>A	ENSP00000254900:p.Ser268Phe	Somatic	0	31	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S268F	ENST00000254900.5	37	c.803	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018603	0.75275	.	.	ENSG00000112983	ENST00000254900;ENST00000230901;ENST00000402931;ENST00000455658	T;T;T;T	0.42900	1.17;1.15;0.97;0.96	5.65	5.65	0.86999	.	0.050764	0.85682	D	0.000000	T	0.55561	0.1928	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.997;0.999	D;D;D;D;D	0.83275	0.996;0.991;0.991;0.991;0.996	T	0.56013	-0.8049	10	0.72032	D	0.01	-7.8492	18.891	0.92403	0.0:0.0:1.0:0.0	.	227;252;47;341;268	F8W820;B4DN43;B4DMS9;Q9H0E9-2;Q9H0E9	.;.;.;.;BRD8_HUMAN	F	268;341;268;227	ENSP00000254900:S268F;ENSP00000230901:S341F;ENSP00000384845:S268F;ENSP00000408396:S227F	ENSP00000230901:S341F	S	-	2	0	BRD8	137530300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.529000	0.81952	2.941000	0.99782	0.655000	0.94253	TCC	-	NULL		0.433	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	protein_coding	OTTHUMT00000251282.3	G	NM_006696	-		137502401	-1	no_errors	ENST00000254900	ensembl	human	known	74_37	missense	SNP	1.000	A	A	137502401	G	A	137502401	3	1	89	1	0	0	0	0	1	0	0	0	1508	1174	41	2	3040	2	BRD8	5	137502401	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	98520325	137502401	43412859	15	5012											
GABRP	2568	genome.wustl.edu	37	chr5	170236578	170236578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttttcccaggagtgaCgaccgtgttatcaatgacca	10	11	1	2	rs558177227		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:170236578C>T	ENST00000518525.1	+	10	1303	c.839C>T	c.(838-840)aCg>aTg	p.T280M	GABRP_ENST00000519598.1_Missense_Mutation_p.T280M|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000265294.4_Missense_Mutation_p.T280M			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	280					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	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(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)	CCAGGAGTGACGACCGTGTTA	0.532											OREG0017032	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	,	,		19289	0		0.001	False		,,,				2504	0																0								ENSG00000094755						226	200	209					5																	170236578		2203	4300	6503	GABRP	SO:0001583	missense	0			-	HGNC	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.839C>T	5.37:g.170236578C>T	ENSP00000430100:p.Thr280Met	Somatic	0	126	0	1883	0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	58	47.75	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T280M	ENST00000518525.1	37	c.839	CCDS4375.1	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908843	0.92107	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.89415	-2.51;-2.51;-2.51	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94803	0.7972	10	0.87932	D	0	.	18.75	0.91810	0.0:1.0:0.0:0.0	.	280	O00591	GBRP_HUMAN	M	280	ENSP00000430100:T280M;ENSP00000265294:T280M;ENSP00000430772:T280M	ENSP00000265294:T280M	T	+	2	0	GABRP	170169156	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.529000	0.85273	0.655000	0.94253	ACG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.532	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	protein_coding	OTTHUMT00000252834.3	C	NM_014211	-		170236578	1	no_errors	ENST00000265294	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170236578	C	T	170236578	3	4	89	1	0	0	0	0	1	0	0	0	6176	536	19	1	869	1	GABRP	5	170236578	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	32734177	170236578	10678682	16	5013											
STK10	6793	genome.wustl.edu	37	chr5	171533797	171533797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctttcatggtctcacaCatgaccacctcgggggccat	10	13	3	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:171533797C>T	ENST00000176763.5	-	6	958	c.615G>A	c.(613-615)atG>atA	p.M205I		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	205	Activation segment.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTCTCACACATGACCACCT	0.562											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000072786						109	97	101					5																	171533797		2203	4300	6503	STK10	SO:0001583	missense	0			-	HGNC	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.615G>A	5.37:g.171533797C>T	ENSP00000176763:p.Met205Ile	Somatic	0	34	0	1893	0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	12.90	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP							pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M205I	ENST00000176763.5	37	c.615	CCDS34290.1	5	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032512	0.54790	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.64991	-0.13	4.86	1.96	0.26148	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097482	0.64402	D	0.000002	T	0.40222	0.1108	N	0.11341	0.13	0.47183	D	0.999344	B	0.10296	0.003	B	0.15870	0.014	T	0.18304	-1.0341	10	0.66056	D	0.02	.	9.3696	0.38246	0.1508:0.5642:0.285:0.0	.	205	O94804	STK10_HUMAN	I	205	ENSP00000176763:M205I	ENSP00000176763:M205I	M	-	3	0	STK10	171466402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.012000	0.57131	0.208000	0.20626	0.655000	0.94253	ATG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.562	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	protein_coding	OTTHUMT00000372374.2	C	NM_005990	-		171533797	-1	no_errors	ENST00000176763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171533797	C	T	171533797	3	4	89	1	0	0	0	0	1	0	0	0	15293	478	17	2	2347	2	STK10	5	171533797	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	1297219	171533797	9381463	17	5014											
DSP	1832	genome.wustl.edu	37	chr6	7581360	7581360	+	Frame_Shift_Del	DEL	A	A	-													gctggatggccacctgagggAaaagcagaggacccaggaag							TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr6:7581360delA	ENST00000379802.3	+	23	5278	c.4937delA	c.(4936-4938)gaafs	p.E1646fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1646	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CACCTGAGGGAAAAGCAGAGG	0.577																																																	0								ENSG00000096696						66	71	69					6																	7581360		2203	4300	6503	DSP	SO:0001589	frameshift_variant	0				HGNC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4937delA	6.37:g.7581360delA	ENSP00000369129:p.Glu1646fs	Somatic	0	35	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL							pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K1647fs	ENST00000379802.3	37	c.4937	CCDS4501.1	6																																																																																			-	NULL		0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	protein_coding	OTTHUMT00000039786.2	A	NM_004415			7581360	1	no_errors	ENST00000379802	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	7581360	A	-	7581360	7	5	89	1	0	1	0	1	0	0	0	0	4783	246	9	0	5027	0	DSP	6	7581360	Frame_Shift_Del	DEL	A	TCGA-DX-A7EQ-01A-11D-A387-09		7581360	163533707	18	5015											
EEF1A1	1915	genome.wustl.edu	37	chr6	74227622	74227622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttgatgacacccaccgCaactgtctgtctcatatcac	6	14	3	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr6:74227622C>T	ENST00000316292.9	-	7	2291	c.1300G>A	c.(1300-1302)Gcg>Acg	p.A434T	EEF1A1_ENST00000331523.2_Missense_Mutation_p.A434T|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.A434T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	434					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCCACCGCAACTGTCTGT	0.413											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000156508						38	40	39					6																	74227622		2203	4300	6503	EEF1A1	SO:0001583	missense	0			-	HGNC	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1300G>A	6.37:g.74227622C>T	ENSP00000339063:p.Ala434Thr	Somatic	0	119	0	1151	0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	85	42.67	P04719|P04720|Q6IQ15	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.A434T	ENST00000316292.9	37	c.1300	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036670	0.54896	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.55760	0.5;0.5;0.5	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.71854	0.3389	H	0.99940	5	0.80722	D	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.22880	0.042;0.042;0.042	T	0.79923	-0.1598	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	434;434;434	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	T	434;434;434;413	ENSP00000339063:A434T;ENSP00000339053:A434T;ENSP00000330054:A434T	ENSP00000339053:A434T	A	-	1	0	EEF1A1	74284343	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.405000	0.80007	2.381000	0.81170	0.556000	0.70494	GCG	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	protein_coding	OTTHUMT00000041210.2	C	NM_001402	-		74227622	-1	no_errors	ENST00000309268	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74227622	C	T	74227622	3	4	89	1	0	0	0	0	1	0	0	0	4925	710	25	2	92	2	EEF1A1	6	74227622	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	66646262	74227622	96887445	19	5016											
C6orf118	168090	genome.wustl.edu	37	chr6	165693595	165693595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgataaatttccaaaGgccccttaaaatacataaga	4	9	0	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr6:165693595G>T	ENST00000230301.8	-	9	1381	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	C6orf118_ENST00000494696.2_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	454										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)		AATTTCCAAAGGCCCCTTAAA	0.299																																																	0								ENSG00000112539						81	74	76					6																	165693595		2203	4299	6502	C6orf118	SO:0001583	missense	0			-	HGNC		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.1361C>A	6.37:g.165693595G>T	ENSP00000230301:p.Pro454His	Somatic	0	62	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q8TC11	Missense_Mutation	SNP							superfamily_Ribonuclease/ribotoxin	p.P454H	ENST00000230301.8	37	c.1361	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	7.008	0.556211	0.13436	.	.	ENSG00000112539	ENST00000230301	T	0.14266	2.52	3.79	1.98	0.26296	.	3.478530	0.00604	N	0.000399	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999995	B	0.19706	0.038	B	0.20384	0.029	T	0.36672	-0.9738	10	0.54805	T	0.06	3.8994	4.6594	0.12634	0.1126:0.0:0.6724:0.215	.	454	Q5T5N4	CF118_HUMAN	H	454	ENSP00000230301:P454H	ENSP00000230301:P454H	P	-	2	0	C6orf118	165613585	0.065000	0.20965	0.000000	0.03702	0.034000	0.12701	0.873000	0.28052	0.553000	0.29044	-0.182000	0.12963	CCT	-	NULL		0.299	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	protein_coding	OTTHUMT00000043026.1	G	NM_144980	-		165693595	-1	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	SNP	0.000	T	T	165693595	G	T	165693595	3	4	89	1	0	0	0	0	1	0	0	0	2325	1000	35	3	52	3	C6orf118	6	165693595	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	91465973	165693595	5421472	20	5017											
AKR1D1	6718	genome.wustl.edu	37	chr7	137776523	137776523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattctttcagctatgggctAcaaatcatgtcccagagatg	9	9	3	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr7:137776523A>G	ENST00000242375.3	+	3	313	c.271A>G	c.(271-273)Aca>Gca	p.T91A	AKR1D1_ENST00000468877.2_Intron|RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000432161.1_Missense_Mutation_p.T91A|AKR1D1_ENST00000411726.2_Missense_Mutation_p.T91A	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	91					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	GCTATGGGCTACAAATCATGT	0.448																																																	0								ENSG00000122787						96	93	94					7																	137776523		2203	4300	6503	AKR1D1	SO:0001583	missense	0			-	HGNC	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.271A>G	7.37:g.137776523A>G	ENSP00000242375:p.Thr91Ala	Somatic	0	77	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	39	44.29	A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP							pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T91A	ENST00000242375.3	37	c.271	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956940	0.73902	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.51325	1.93;1.93;1.93;0.71	5.4	5.4	0.78164	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.54965	1.715	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.996;0.982	D;D;P	0.76575	0.988;0.943;0.768	T	0.65734	-0.6096	10	0.72032	D	0.01	.	13.4313	0.61057	1.0:0.0:0.0:0.0	.	91;91;91	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	A	91;91;91;35	ENSP00000389197:T91A;ENSP00000402374:T91A;ENSP00000242375:T91A;ENSP00000397042:T35A	ENSP00000242375:T91A	T	+	1	0	AKR1D1	137427063	1.000000	0.71417	0.680000	0.29994	0.701000	0.40568	8.184000	0.89702	2.271000	0.75665	0.533000	0.62120	ACA	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.448	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	protein_coding	OTTHUMT00000341637.1	A	NM_005989	-		137776523	1	no_errors	ENST00000242375	ensembl	human	known	74_37	missense	SNP	0.996	G	G	137776523	A	G	137776523	3	3	89	1	0	0	0	0	1	0	0	0	473	391	14	5	281	5	AKR1D1	7	137776523	Missense_Mutation	SNP	A	TCGA-DX-A7EQ-01A-11D-A387-09		137776523	21362140	21	5018											
ZNF862	643641	genome.wustl.edu	37	chr7	149545354	149545354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatagcatggctgagctcCtgccaagttcaagagctgaa	11	9	1	4			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr7:149545354C>T	ENST00000223210.4	+	4	1017	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGCTGAGCTCCTGCCAAGTTC	0.527																																																	0								ENSG00000106479						16	18	17					7																	149545354		1850	4098	5948	ZNF862	SO:0001819	synonymous_variant	0			-	HGNC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.772C>T	7.37:g.149545354C>T		Somatic	0	78	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	A0AUL8	Silent	SNP							pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.L258	ENST00000223210.4	37	c.772	CCDS47741.1	7																																																																																			-	NULL		0.527	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	protein_coding	OTTHUMT00000350165.1	C	NM_001099220	-		149545354	1	no_errors	ENST00000223210	ensembl	human	known	74_37	silent	SNP	0.997	T	T	149545354	C	T	149545354	2	4	89	1	0	0	0	0	0	0	0	1	18202	680	24	2		2	ZNF862	7	149545354	Silent	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	11768831	149545354	9593309	22	5019											
REPIN1	29803	genome.wustl.edu	37	chr7	150069822	150069822	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgcggcaaagccttcagcCagaagtccaacctggtgtcg	11	13	1	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr7:150069822C>G	ENST00000425389.2	+	1	1570	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	REPIN1_ENST00000540729.1_Missense_Mutation_p.Q498E|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.Q555E|REPIN1_ENST00000397281.2_Missense_Mutation_p.Q498E|REPIN1_ENST00000444957.1_Missense_Mutation_p.Q498E	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	498					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCCTTCAGCCAGAAGTCCAA	0.672																																																	0								ENSG00000214022						41	49	47					7																	150069822		2202	4299	6501	REPIN1	SO:0001583	missense	0			-	HGNC	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1492C>G	7.37:g.150069822C>G	ENSP00000388287:p.Gln498Glu	Somatic	0	47	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q555E	ENST00000425389.2	37	c.1663	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863189	0.51482	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49762	0.1576	L	0.45744	1.44	0.80722	D	1	D;D	0.63880	0.993;0.992	P;D	0.69654	0.785;0.965	T	0.40627	-0.9553	9	0.33940	T	0.23	-23.9681	13.8973	0.63781	0.0:1.0:0.0:0.0	.	555;498	C9J3L7;Q9BWE0	.;REPI1_HUMAN	E	498;498;498;555;498	ENSP00000445016:Q498E;ENSP00000380451:Q498E;ENSP00000407714:Q498E;ENSP00000417291:Q555E;ENSP00000388287:Q498E	ENSP00000380451:Q498E	Q	+	1	0	REPIN1	149700755	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-0.035000	0.12205	2.142000	0.66516	0.462000	0.41574	CAG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	protein_coding	OTTHUMT00000376940.1	C	NM_014374	-		150069822	1	no_errors	ENST00000489432	ensembl	human	known	74_37	missense	SNP	1.000	G	G	150069822	C	G	150069822	3	3	89	1	0	0	0	0	1	0	0	0	13235	595	21	4	1669	4	REPIN1	7	150069822	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	524468	150069822	9068841	23	5020											
PREX2	80243	genome.wustl.edu	37	chr8	69030858	69030858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgcagctcgtatttcCacagtgatgaaatggactca	10	10	1	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr8:69030858C>A	ENST00000288368.4	+	27	3677	c.3400C>A	c.(3400-3402)Cac>Aac	p.H1134N		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1134					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCGTATTTCCACAGTGATGA	0.438																																																	0								ENSG00000046889						149	132	138					8																	69030858		2203	4300	6503	PREX2	SO:0001583	missense	0			-	HGNC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3400C>A	8.37:g.69030858C>A	ENSP00000288368:p.His1134Asn	Somatic	0	87	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.53	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP							pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H1134N	ENST00000288368.4	37	c.3400	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831717	0.71258	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.35421	1.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.44542	1.39	0.80722	D	1	P	0.38395	0.629	B	0.41036	0.346	T	0.09487	-1.0672	10	0.32370	T	0.25	.	18.7437	0.91784	0.0:1.0:0.0:0.0	.	1134	Q70Z35	PREX2_HUMAN	N	1134;1139	ENSP00000288368:H1134N	ENSP00000288368:H1134N	H	+	1	0	PREX2	69193412	1.000000	0.71417	0.933000	0.37362	0.983000	0.72400	7.439000	0.80444	2.435000	0.82474	0.591000	0.81541	CAC	-	NULL		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	protein_coding	OTTHUMT00000378620.1	C	NM_025170	-		69030858	1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69030858	C	A	69030858	3	1	89	1	0	0	0	0	1	0	0	0	12482	594	21	3	3735	3	PREX2	8	69030858	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09		69030858	77333164	24	5021											
ZHX2	22882	genome.wustl.edu	37	chr8	123964551	123964551	+	Frame_Shift_Del	DEL	C	C	-													ccactaaatactaccaaataCaactctgccctggatacaaa							TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr8:123964551delC	ENST00000314393.4	+	3	1636	c.801delC	c.(799-801)tacfs	p.Y267fs		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	267	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCAAATACAACTCTGCCC	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0								ENSG00000178764						157	163	161					8																	123964551		2203	4300	6503	ZHX2	SO:0001589	frameshift_variant	0				HGNC	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.801delC	8.37:g.123964551delC	ENSP00000314709:p.Tyr267fs	Somatic	0	57	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	39	40.00		Frame_Shift_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Y267fs	ENST00000314393.4	37	c.801	CCDS6336.1	8																																																																																			-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	protein_coding	OTTHUMT00000381709.1	C	NM_014943			123964551	1	no_errors	ENST00000314393	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	123964551	C	-	123964551	7	5	89	1	0	1	0	1	0	0	0	0	17683	489	17	0	803	0	ZHX2	8	123964551	Frame_Shift_Del	DEL	C	TCGA-DX-A7EQ-01A-11D-A387-09	54933693	123964551	22399471	25	5022											
SEMA4D	10507	genome.wustl.edu	37	chr9	92006299	92006299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggggctgtctgggcttttTcggatcacgtcagcaaacac	12	11	3	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:92006299T>C	ENST00000450295.1	-	9	1430	c.654A>G	c.(652-654)cgA>cgG	p.R218R	SEMA4D_ENST00000455551.2_Silent_p.R218R|SEMA4D_ENST00000339861.4_Silent_p.R218R|SEMA4D_ENST00000420987.1_Silent_p.R218R|SEMA4D_ENST00000438547.2_Silent_p.R218R|SEMA4D_ENST00000356444.2_Silent_p.R218R|SEMA4D_ENST00000343780.4_Silent_p.R218R|SEMA4D_ENST00000422704.2_Silent_p.R218R			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	218	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTGGGCTTTTTCGGATCACGT	0.552																																																	0								ENSG00000187764						138	117	124					9																	92006299		2203	4300	6503	SEMA4D	SO:0001819	synonymous_variant	0			-	HGNC	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.654A>G	9.37:g.92006299T>C		Somatic	0	35	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP							pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R218	ENST00000450295.1	37	c.654	CCDS6685.1	9																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.552	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	protein_coding	OTTHUMT00000342411.1	T	NM_006378	-		92006299	-1	no_errors	ENST00000356444	ensembl	human	known	74_37	silent	SNP	0.012	C	C	92006299	T	C	92006299	2	2	89	1	0	0	0	0	0	0	0	1	14042	1770	62	5		5	SEMA4D	9	92006299	Silent	SNP	T	TCGA-DX-A7EQ-01A-11D-A387-09		92006299	49207132	26	5023											
PBX3	5090	genome.wustl.edu	37	chr9	128678030	128678030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctaatgagactggacaatAtgcttttggcagaaggggtt	13	5	0	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:128678030A>G	ENST00000373489.5	+	3	356	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	PBX3_ENST00000373483.2_Intron|PBX3_ENST00000342287.5_Missense_Mutation_p.M114V|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.M114V|PBX3_ENST00000447726.2_Missense_Mutation_p.M39V	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	114					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ACTGGACAATATGCTTTTGGC	0.557																																																	0								ENSG00000167081						61	66	64					9																	128678030		2203	4300	6503	PBX3	SO:0001583	missense	0			-	HGNC		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.340A>G	9.37:g.128678030A>G	ENSP00000362588:p.Met114Val	Somatic	0	71	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	38	49.33	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP							pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.M114V	ENST00000373489.5	37	c.340	CCDS6865.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.03|19.03	3.748510|3.748510	0.69533|0.69533	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998|ENST00000428092	T;T;T;T;T|.	0.39592|.	1.07;1.07;1.07;1.07;1.07|.	5.87|5.87	5.87|5.87	0.94306|0.94306	PBX (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83459|0.83459	0.5259|0.5259	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.957;1.0|.	D;D;D|.	0.91635|.	0.999;0.981;0.999|.	D|D	0.86018|0.86018	0.1505|0.1505	10|5	0.72032|.	D|.	0.01|.	.|.	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	25;114;114|.	B7Z5Q0;Q5JS98;P40426|.	.;.;PBX3_HUMAN|.	V|C	114;114;114;39;25|34	ENSP00000362588:M114V;ENSP00000341990:M114V;ENSP00000362586:M114V;ENSP00000387456:M39V;ENSP00000444005:M25V|.	ENSP00000341990:M114V|.	M|Y	+|+	1|2	0|0	PBX3|PBX3	127717851|127717851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.910000|8.910000	0.92685|0.92685	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|TAT	-	pfam_PBX		0.557	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	protein_coding	OTTHUMT00000417765.1	A		-		128678030	1	no_errors	ENST00000373489	ensembl	human	known	74_37	missense	SNP	1.000	G	G	128678030	A	G	128678030	3	3	89	1	0	0	0	0	1	0	0	0	11496	449	16	5	350	5	PBX3	9	128678030	Missense_Mutation	SNP	A	TCGA-DX-A7EQ-01A-11D-A387-09	36671731	128678030	12535401	27	5024											
C9orf117	286207	genome.wustl.edu	37	chr9	130471904	130471904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatgccttcgaggcgcAgctggcccaggtgcgccacg	16	13	0	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:130471904A>C	ENST00000373295.2	+	2	405	c.365A>C	c.(364-366)cAg>cCg	p.Q122P	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	122										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TTCGAGGCGCAGCTGGCCCAG	0.602																																																	0								ENSG00000160401						44	50	48					9																	130471904		2080	4205	6285	C9orf117	SO:0001583	missense	0			-	HGNC	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.365A>C	9.37:g.130471904A>C	ENSP00000362392:p.Gln122Pro	Somatic	0	43	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A5D8T9	Missense_Mutation	SNP							NULL	p.Q122P	ENST00000373295.2	37	c.365	CCDS43878.1	9	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731489	0.69189	.	.	ENSG00000160401	ENST00000373295	T	0.46819	0.86	4.88	4.88	0.63580	.	0.061292	0.64402	D	0.000003	T	0.65015	0.2651	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.67722	-0.5597	10	0.54805	T	0.06	-30.3961	12.4423	0.55631	1.0:0.0:0.0:0.0	.	122	Q5JU67	CI117_HUMAN	P	122	ENSP00000362392:Q122P	ENSP00000362392:Q122P	Q	+	2	0	C9orf117	129511725	1.000000	0.71417	0.953000	0.39169	0.875000	0.50365	5.420000	0.66441	1.832000	0.53329	0.418000	0.28097	CAG	-	NULL		0.602	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C9orf117	protein_coding	OTTHUMT00000054215.2	A	NM_001012502	-		130471904	1	no_errors	ENST00000373295	ensembl	human	known	74_37	missense	SNP	1.000	C	C	130471904	A	C	130471904	3	2	89	1	0	0	0	0	1	0	0	0	2453	188	7	5	371	5	C9orf117	9	130471904	Missense_Mutation	SNP	A	TCGA-DX-A7EQ-01A-11D-A387-09	1793874	130471904	10741527	28	5025											
GPR158	57512	genome.wustl.edu	37	chr10	25877983	25877983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatctctgctatgcagtgCggacagtcccatcggcattc	9	12	1	0	rs377328410		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr10:25877983C>T	ENST00000376351.3	+	8	2160	c.1801C>T	c.(1801-1803)Cgg>Tgg	p.R601W		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	601					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTATGCAGTGCGGACAGTCCC	0.398																																																	0								ENSG00000151025	C	TRP/ARG	0,4406		0,0,2203	115	106	109		1801	4.9	1	10		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	601/1216	25877983	1,13005	2203	4300	6503	GPR158	SO:0001583	missense	0			-	HGNC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1801C>T	10.37:g.25877983C>T	ENSP00000365529:p.Arg601Trp	Somatic	0	95	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	54	43.75	Q6QR81|Q9ULT3	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R601W	ENST00000376351.3	37	c.1801	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137238	0.77775	0.0	1.16E-4	ENSG00000151025	ENST00000376351	D	0.91577	-2.87	4.94	4.94	0.65067	GPCR, family 3, C-terminal (2);	0.082130	0.48767	D	0.000171	D	0.96147	0.8744	M	0.88906	2.99	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.96878	0.9644	10	0.87932	D	0	.	18.5361	0.91011	0.0:1.0:0.0:0.0	.	601	Q5T848	GP158_HUMAN	W	601	ENSP00000365529:R601W	ENSP00000365529:R601W	R	+	1	2	GPR158	25917989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.740000	0.38228	2.447000	0.82792	0.655000	0.94253	CGG	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.398	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	C	XM_166110	-		25877983	1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25877983	C	T	25877983	3	4	89	1	0	0	0	0	1	0	0	0	6665	759	27	1	1831	1	GPR158	10	25877983	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09		25877983	109656764	29	5026											
PITPNM1	9600	genome.wustl.edu	37	chr11	67259587	67259587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgttcccgggccctcacGctccgcctggctggggcccc	14	18	1	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr11:67259587G>A	ENST00000534749.1	-	23	3840	c.3652C>T	c.(3652-3654)Cgt>Tgt	p.R1218C	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R1218C|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R1217C			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1218					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGCCCTCACGCTCCGCCTGG	0.677																																					GBM(28;144 709 4607 5525)												0								ENSG00000110697						37	40	39					11																	67259587		2200	4292	6492	PITPNM1	SO:0001583	missense	0			-	HGNC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3652C>T	11.37:g.67259587G>A	ENSP00000437286:p.Arg1218Cys	Somatic	0	134	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	55	49.07	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP							pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.R1218C	ENST00000534749.1	37	c.3652	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644112	0.47258	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.48201	0.82;0.82;0.82	4.73	4.73	0.59995	.	0.710727	0.12166	N	0.493552	T	0.49490	0.1560	L	0.54323	1.7	0.58432	D	0.999994	P;P	0.52061	0.95;0.916	B;B	0.43052	0.406;0.23	T	0.55774	-0.8088	10	0.54805	T	0.06	-10.1171	16.6458	0.85176	0.0:0.0:1.0:0.0	.	1217;1218	O00562-2;O00562	.;PITM1_HUMAN	C	1218;1217;1218	ENSP00000437286:R1218C;ENSP00000398787:R1217C;ENSP00000348772:R1218C	ENSP00000348772:R1218C	R	-	1	0	PITPNM1	67016163	0.947000	0.32204	0.089000	0.20774	0.053000	0.15095	2.760000	0.47581	2.353000	0.79882	0.462000	0.41574	CGT	-	NULL		0.677	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	protein_coding	OTTHUMT00000395520.1	G	NM_004910	-		67259587	-1	no_errors	ENST00000356404	ensembl	human	known	74_37	missense	SNP	0.933	A	A	67259587	G	A	67259587	3	1	89	1	0	0	0	0	1	0	0	0	11952	1087	38	1	86	1	PITPNM1	11	67259587	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		67259587	67746929	30	5027											
MYF5	4617	genome.wustl.edu	37	chr12	81111289	81111289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaactactatagcctgccGggacagagctgctcggagcc	13	12	0	2	rs141800220		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr12:81111289G>A	ENST00000228644.3	+	1	599	c.447G>A	c.(445-447)ccG>ccA	p.P149P		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	149					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						ATAGCCTGCCGGGACAGAGCT	0.557																																																	0								ENSG00000111049						121	130	127					12																	81111289		2203	4300	6503	MYF5	SO:0001819	synonymous_variant	0			-	HGNC		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.447G>A	12.37:g.81111289G>A		Somatic	0	58	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	30	48.28	Q6ISR9	Silent	SNP							pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.P149	ENST00000228644.3	37	c.447	CCDS9020.1	12																																																																																			-	pfam_Myf5,superfamily_bHLH_dom		0.557	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	protein_coding	OTTHUMT00000407757.1	G	NM_005593	-		81111289	1	no_errors	ENST00000228644	ensembl	human	known	74_37	silent	SNP	0.888	A	A	81111289	G	A	81111289	2	1	89	1	0	0	0	0	0	0	0	1	10029	1103	39	1		1	MYF5	12	81111289	Silent	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		81111289	52740606	31	5028											
MTRF1	9617	genome.wustl.edu	37	chr13	41834665	41834665	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taattcttcaattgcttgttCagtctcctgaatttcttggt	6	8	5	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr13:41834665C>T	ENST00000379480.4	-	2	479	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MTRF1_ENST00000430347.2_Missense_Mutation_p.E140K|MTRF1_ENST00000379477.1_Missense_Mutation_p.E127K|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	127					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		ATTGCTTGTTCAGTCTCCTGA	0.393																																																	0								ENSG00000120662						162	157	159					13																	41834665		2203	4300	6503	MTRF1	SO:0001583	missense	0			-	HGNC	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.379G>A	13.37:g.41834665C>T	ENSP00000368793:p.Glu127Lys	Somatic	0	62	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP							pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.E140K	ENST00000379480.4	37	c.418	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103747	0.37145	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000239852;ENST00000452359	T;T;T;T	0.24538	2.8;2.8;2.8;1.85	4.41	2.64	0.31445	.	0.620154	0.16219	N	0.224121	T	0.17874	0.0429	L	0.34521	1.04	0.39409	D	0.966728	B;B	0.17852	0.024;0.008	B;B	0.15484	0.013;0.003	T	0.05566	-1.0877	10	0.51188	T	0.08	-6.7378	6.6021	0.22707	0.0:0.6668:0.1636:0.1696	.	140;127	B4DG01;O75570	.;RF1M_HUMAN	K	127;127;140;127;127	ENSP00000368793:E127K;ENSP00000368790:E127K;ENSP00000400031:E140K;ENSP00000399279:E127K	ENSP00000239852:E127K	E	-	1	0	MTRF1	40732665	0.659000	0.27411	0.923000	0.36655	0.982000	0.71751	1.025000	0.30090	0.450000	0.26774	0.467000	0.42956	GAA	-	NULL		0.393	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	protein_coding	OTTHUMT00000044666.3	C	NM_004294	-		41834665	-1	no_errors	ENST00000430347	ensembl	human	known	74_37	missense	SNP	0.942	T	T	41834665	C	T	41834665	3	4	89	1	0	0	0	0	1	0	0	0	9961	835	29	2	994	2	MTRF1	13	41834665	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09		41834665	73335213	32	5029											
FCF1	51077	genome.wustl.edu	37	chr14	75190037	75190037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattggggcagaagtatcgaGtggctctaaggtaggaagga	16	4	1	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr14:75190037G>T	ENST00000341162.4	+	5	409	c.355G>T	c.(355-357)Gtg>Ttg	p.V119L	FCF1_ENST00000534938.2_Missense_Mutation_p.V107L|FCF1_ENST00000553615.1_Missense_Mutation_p.V104L	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	119	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		GAAGTATCGAGTGGCTCTAAG	0.383																																																	0								ENSG00000119616						112	107	109					14																	75190037		2203	4300	6503	FCF1	SO:0001583	missense	0			-	HGNC	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 111", "FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.355G>T	14.37:g.75190037G>T	ENSP00000344393:p.Val119Leu	Somatic	0	70	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	44	22.81	Q86TW8|Q8TBL8	Missense_Mutation	SNP							pfam_Fcf1/Utp23,smart_PIN_dom	p.V119L	ENST00000341162.4	37	c.355	CCDS9832.1	14	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391061	0.42410	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.39	5.39	0.77823	Nucleotide binding protein, PINc (1);	0.054331	0.64402	D	0.000001	T	0.41719	0.1171	N	0.11870	0.19	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.20384	0.029;0.005	T	0.27571	-1.0070	9	0.12766	T	0.61	.	19.3429	0.94350	0.0:0.0:1.0:0.0	.	119;104	Q9Y324;G3V5S9	FCF1_HUMAN;.	L	30;119;107;104	.	ENSP00000344393:V119L	V	+	1	0	FCF1	74259790	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.292000	0.96076	2.795000	0.96236	0.655000	0.94253	GTG	-	pfam_Fcf1/Utp23,smart_PIN_dom		0.383	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCF1	protein_coding	OTTHUMT00000413622.1	G	NM_015962	-		75190037	1	no_errors	ENST00000341162	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75190037	G	T	75190037	3	4	89	1	0	0	0	0	1	0	0	0	5779	1029	36	3	373	3	FCF1	14	75190037	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		75190037	32159503	33	5030											
GPR132	29933	genome.wustl.edu	37	chr14	105517724	105517724	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggggcgaagcagactaggaaGatgacaaccaccgcgatggc	15	10	0	3			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr14:105517724G>C	ENST00000329797.3	-	4	1661	c.750C>G	c.(748-750)atC>atG	p.I250M	GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000392585.2_Missense_Mutation_p.I241M|GPR132_ENST00000539291.2_Missense_Mutation_p.I250M	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	250					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGACTAGGAAGATGACAACCA	0.577																																																	0								ENSG00000183484						114	112	112					14																	105517724		2203	4300	6503	GPR132	SO:0001583	missense	0			-	HGNC	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.750C>G	14.37:g.105517724G>C	ENSP00000328818:p.Ile250Met	Somatic	0	35	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I250M	ENST00000329797.3	37	c.750	CCDS9997.1	14	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179120	0.38511	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.72505	-0.66;-0.66;-0.66	4.88	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.170357	0.44285	D	0.000464	T	0.78748	0.4332	M	0.81239	2.535	0.37012	D	0.895778	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.77910	-0.2411	10	0.41790	T	0.15	.	1.9588	0.03381	0.344:0.0:0.3926:0.2634	.	241;250	B4E144;Q9UNW8	.;GP132_HUMAN	M	250;241;250	ENSP00000328818:I250M;ENSP00000376364:I241M;ENSP00000438094:I250M	ENSP00000328818:I250M	I	-	3	3	GPR132	104588769	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	0.854000	0.27791	1.040000	0.40099	0.563000	0.77884	ATC	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	protein_coding	OTTHUMT00000409278.1	G	NM_013345	-		105517724	-1	no_errors	ENST00000329797	ensembl	human	known	74_37	missense	SNP	1.000	C	C	105517724	G	C	105517724	3	2	89	1	0	0	0	0	1	0	0	0	6644	932	33	4	396	4	GPR132	14	105517724	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	30327687	105517724	1831816	34	5031											
TM2D3	80213	genome.wustl.edu	37	chr15	102186981	102186981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggtagcgctgccgaGgacaggacaccgtcatgcag	16	11	1	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr15:102186981G>T	ENST00000333202.3	-	4	454	c.449C>A	c.(448-450)cCt>cAt	p.P150H	TM2D3_ENST00000561373.1_Missense_Mutation_p.P85H|TM2D3_ENST00000428002.2_Missense_Mutation_p.P124H|TM2D3_ENST00000559107.1_Missense_Mutation_p.P150H|RNU6-807P_ENST00000516805.1_RNA|TM2D3_ENST00000347970.3_Missense_Mutation_p.P124H	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	150						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCGCTGCCGAGGACAGGACAC	0.498																																																	0								ENSG00000184277						138	113	122					15																	102186981		2203	4300	6503	TM2D3	SO:0001583	missense	0			-	HGNC	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.449C>A	15.37:g.102186981G>T	ENSP00000330433:p.Pro150His	Somatic	0	45	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP							pfam_TM2	p.P150H	ENST00000333202.3	37	c.449	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.090252	0.94149	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	T;T;T	0.74632	-0.86;-0.86;-0.86	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.997;0.993;1.0	D	0.87452	0.2402	10	0.56958	D	0.05	-15.1649	17.3697	0.87373	0.0:0.0:1.0:0.0	.	150;124;124;150	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	H	124;124;150	ENSP00000402179:P124H;ENSP00000327584:P124H;ENSP00000330433:P150H	ENSP00000330433:P150H	P	-	2	0	TM2D3	100004504	1.000000	0.71417	0.852000	0.33557	0.983000	0.72400	9.566000	0.98157	2.704000	0.92352	0.585000	0.79938	CCT	-	NULL		0.498	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	protein_coding	OTTHUMT00000313623.1	G	NM_078474	-		102186981	-1	no_errors	ENST00000333202	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102186981	G	T	102186981	3	4	89	1	0	0	0	0	1	0	0	0	15972	1000	35	3	306	3	TM2D3	15	102186981	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		102186981	344411	35	5032											
MMP25	64386	genome.wustl.edu	37	chr16	3100142	3100142	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagcgaaccctgacatGgaggtaggtcctggggccca	15	10	0	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr16:3100142G>A	ENST00000336577.4	+	3	602	c.365G>A	c.(364-366)tGg>tAg	p.W122*	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	137					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)	ACCCTGACATGGAGGTAGGTC	0.697																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0								ENSG00000008516						64	64	64					16																	3100142		2197	4299	6496	MMP25	SO:0001587	stop_gained	0			-	HGNC	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.365G>A	16.37:g.3100142G>A	ENSP00000337816:p.Trp122*	Somatic	0	61	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.43	Q96F04|Q96TE2	Nonsense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.W122*	ENST00000336577.4	37	c.365	CCDS10492.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995070	0.93167	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	.	.	.	5.06	5.06	0.68205	.	0.000000	0.46145	D	0.000309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	15.8905	0.79293	0.0:0.0:1.0:0.0	.	.	.	.	X	122;49	.	ENSP00000324953:W49X	W	+	2	0	MMP25	3040143	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.638000	0.61353	2.356000	0.79943	0.655000	0.94253	TGG	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.697	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	protein_coding	OTTHUMT00000437116.1	G	NM_022468	-		3100142	1	no_errors	ENST00000336577	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	3100142	G	A	3100142	4	1	89	1	0	0	0	0	0	1	0	0	9664	1357	47	2	375	2	MMP25	16	3100142	Nonsense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09		3100142	87254611	36	5033											
ADCY9	115	genome.wustl.edu	37	chr16	4033317	4033317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgggggaggcacggtgGccgcctcgtacttcaggaag	19	11	1	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr16:4033317G>A	ENST00000294016.3	-	7	2973	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	812					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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCACGGTGGCCGCCTCGTA	0.642											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162104						39	30	33					16																	4033317		2186	4295	6481	ADCY9	SO:0001583	missense	0			-	HGNC	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2435C>T	16.37:g.4033317G>A	ENSP00000294016:p.Ala812Val	Somatic	0	45	0	615	0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	19	57.78	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP							pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A812V	ENST00000294016.3	37	c.2435	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	8.318	0.823569	0.16678	.	.	ENSG00000162104	ENST00000294016	D	0.82711	-1.64	5.94	5.94	0.96194	.	0.731345	0.13522	N	0.381627	T	0.70631	0.3246	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55970	-0.8056	10	0.30854	T	0.27	.	10.302	0.43659	0.0691:0.0:0.7961:0.1348	.	812	O60503	ADCY9_HUMAN	V	812	ENSP00000294016:A812V	ENSP00000294016:A812V	A	-	2	0	ADCY9	3973318	0.209000	0.23505	0.008000	0.14137	0.006000	0.05464	3.046000	0.49846	2.826000	0.97356	0.561000	0.74099	GCC	-	NULL		0.642	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	protein_coding	OTTHUMT00000438076.1	G		-		4033317	-1	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	SNP	0.014	A	A	4033317	G	A	4033317	3	1	89	1	0	0	0	0	1	0	0	0	301	1203	42	2	1646	2	ADCY9	16	4033317	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	933175	4033317	86321436	37	5034											
ITGAL	3683	genome.wustl.edu	37	chr16	30484205	30484205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggcgctgctgtctgGgttctttttcttcggtaggc	14	10	3	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr16:30484205G>T	ENST00000356798.6	+	1	227	c.47G>T	c.(46-48)gGg>gTg	p.G16V	ITGAL_ENST00000358164.5_Missense_Mutation_p.G16V|ITGAL_ENST00000454514.2_Missense_Mutation_p.G16V|Y_RNA_ENST00000410769.1_RNA|ITGAL_ENST00000433423.2_Missense_Mutation_p.G16V	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	16					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTGCTGTCTGGGTTCTTTTTC	0.592																																					NSCLC(110;1462 1641 3311 33990 49495)												0								ENSG00000005844						132	107	115					16																	30484205		2197	4300	6497	ITGAL	SO:0001583	missense	0			-	HGNC		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.47G>T	16.37:g.30484205G>T	ENSP00000349252:p.Gly16Val	Somatic	0	48	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.G16V	ENST00000356798.6	37	c.47	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976259	0.53720	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514;ENST00000433423	D;T;D;T	0.92199	-2.99;0.65;-2.99;0.2	4.76	3.78	0.43462	.	0.154798	0.30584	N	0.009310	D	0.92954	0.7758	L	0.56769	1.78	0.36977	D	0.894098	D;D;B	0.60160	0.987;0.964;0.307	P;P;B	0.59825	0.864;0.726;0.083	D	0.92502	0.6009	10	0.30078	T	0.28	.	10.8937	0.47010	0.0:0.1903:0.8097:0.0	.	16;16;16	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	V	16	ENSP00000349252:G16V;ENSP00000350886:G16V;ENSP00000408615:G16V;ENSP00000409377:G16V	ENSP00000349252:G16V	G	+	2	0	ITGAL	30391706	0.440000	0.25618	0.542000	0.28115	0.006000	0.05464	1.149000	0.31626	1.329000	0.45376	0.563000	0.77884	GGG	-	NULL		0.592	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	protein_coding	OTTHUMT00000434508.2	G		-		30484205	1	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	SNP	0.464	T	T	30484205	G	T	30484205	3	4	89	1	0	0	0	0	1	0	0	0	7888	1232	43	3	49	3	ITGAL	16	30484205	Missense_Mutation	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	26450888	30484205	59870548	38	5035											
ERBB2	2064	genome.wustl.edu	37	chr17	37864783	37864783	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctgcagcttcgaagcctCacaggtggccttcaccgtca	11	14	3	0			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr17:37864783C>T	ENST00000269571.5	+	3	594	c.435C>T	c.(433-435)ctC>ctT	p.L145L	ERBB2_ENST00000578199.1_Silent_p.L115L|ERBB2_ENST00000584450.1_Silent_p.L145L|ERBB2_ENST00000540042.1_Silent_p.L115L|ERBB2_ENST00000541774.1_Silent_p.L130L|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.L115L|ERBB2_ENST00000406381.2_Silent_p.L115L|ERBB2_ENST00000540147.1_Silent_p.L115L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	145					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TTCGAAGCCTCACAGGTGGCC	0.577		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0								ENSG00000141736						47	52	50					17																	37864783		2203	4300	6503	ERBB2	SO:0001819	synonymous_variant	0			-	HGNC	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.435C>T	17.37:g.37864783C>T		Somatic	0	58	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L145	ENST00000269571.5	37	c.435	CCDS32642.1	17																																																																																			-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	C		-		37864783	1	no_errors	ENST00000269571	ensembl	human	known	74_37	silent	SNP	1.000	T	T	37864783	C	T	37864783	2	4	89	1	0	0	0	0	0	0	0	1	5208	813	29	2		2	ERBB2	17	37864783	Silent	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09		37864783	43330427	39	5036											
OTOP2	92736	genome.wustl.edu	37	chr17	72927065	72927065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggagccctgccaagaCctcaccttcaccaacctgga	7	18	2	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr17:72927065C>T	ENST00000580223.1	+	5	1365	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	OTOP2_ENST00000331427.4_Silent_p.D445D			Q7RTS6	OTOP2_HUMAN	otopetrin 2	445						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTGCCAAGACCTCACCTTCA	0.637																																																	0								ENSG00000183034						105	85	92					17																	72927065		2203	4300	6503	OTOP2	SO:0001819	synonymous_variant	0			-	HGNC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1335C>T	17.37:g.72927065C>T		Somatic	0	82	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53		Silent	SNP							pfam_Otopetrin	p.D445	ENST00000580223.1	37	c.1335	CCDS11708.1	17																																																																																			-	NULL		0.637	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	protein_coding	OTTHUMT00000445306.1	C	NM_178160	-		72927065	1	no_errors	ENST00000331427	ensembl	human	known	74_37	silent	SNP	0.952	T	T	72927065	C	T	72927065	2	4	89	1	0	0	0	0	0	0	0	1	11308	506	18	2		2	OTOP2	17	72927065	Silent	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	35062282	72927065	8268145	40	5037											
MIER2	54531	genome.wustl.edu	37	chr19	306713	306713	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcatcacgttacagcTgcaggggagagaccaagaga	14	9	2	2			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:306713T>A	ENST00000264819.4	-	14	1627		c.e14-2		CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		ACGTTACAGCTGCAGGGGAGA	0.662																																																	0								ENSG00000105556						89	72	78					19																	306713		2170	4244	6414	MIER2	SO:0001630	splice_region_variant	0			-	HGNC	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1617-2A>T	19.37:g.306713T>A		Somatic	0	61	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	41	51.19	Q9ULM7	Splice_Site	SNP							-	e14-2	ENST00000264819.4	37	c.1617-2	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648287	0.47258	.	.	ENSG00000105556	ENST00000264819	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4846	0.44713	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MIER2	257713	0.988000	0.35896	0.958000	0.39756	0.489000	0.33432	1.039000	0.30266	1.751000	0.51876	0.402000	0.26972	.	-	-		0.662	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	protein_coding	OTTHUMT00000451784.1	T	XM_041843	-	Intron	306713	-1	no_errors	ENST00000264819	ensembl	human	known	74_37	splice_site	SNP	0.997	A	A	306713	T	A	306713	5	1	89	1	0	0	0	0	0	0	1	0	9583	1594	55	5	26	5	MIER2	19	306713	Splice_Site	SNP	T	TCGA-DX-A7EQ-01A-11D-A387-09		306713	58822270	41	5038											
CYP4F12	66002	genome.wustl.edu	37	chr19	15807832	15807832	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccgcaggaagctggaattGatcatgcgcgccgagggcgg	16	12	1	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:15807832G>A	ENST00000550308.1	+	13	1892	c.1512G>A	c.(1510-1512)ttG>ttA	p.L504L	CYP4F12_ENST00000324632.10_Silent_p.L504L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	504					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)	AGCTGGAATTGATCATGCGCG	0.582																																																	0								ENSG00000186204						57	60	59					19																	15807832		2202	4300	6502	CYP4F12	SO:0001819	synonymous_variant	0			-	HGNC	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.1512G>A	19.37:g.15807832G>A		Somatic	1	148	0.67		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	120	9.09	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L504	ENST00000550308.1	37	c.1512	CCDS42517.1	19																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.582	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	G		-		15807832	1	no_errors	ENST00000324632	ensembl	human	known	74_37	silent	SNP	0.967	A	A	15807832	G	A	15807832	2	1	89	1	0	0	0	0	0	0	0	1	4189	1281	45	2		2	CYP4F12	19	15807832	Silent	SNP	G	TCGA-DX-A7EQ-01A-11D-A387-09	15501119	15807832	43321151	42	5039											
ZFP30	22835	genome.wustl.edu	37	chr19	38126321	38126321	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttttcaccagtatgtattCtctgatggagagttagatga	10	6	2	4	rs541723751		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:38126321C>T	ENST00000351218.2	-	6	1678	c.1121G>A	c.(1120-1122)aGa>aAa	p.R374K	ZFP30_ENST00000514101.2_Missense_Mutation_p.R374K|ZFP30_ENST00000392144.1_Missense_Mutation_p.R374K|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	374					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.R374I(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGTATTCTCTGATGGAG	0.408													C|||	1	0.000199681	0	0	5008	,	,		23114	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000120784						69	72	71					19																	38126321		2203	4300	6503	ZFP30	SO:0001583	missense	0			-	HGNC	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1121G>A	19.37:g.38126321C>T	ENSP00000343581:p.Arg374Lys	Somatic	0	47	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	Q58EY8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R374K	ENST00000351218.2	37	c.1121	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983845	0.53827	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.18338	2.22;2.22;2.22	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001838	T	0.30665	0.0772	L	0.44542	1.39	0.26230	N	0.979036	D;D	0.53745	0.962;0.962	D;D	0.73380	0.98;0.98	T	0.02037	-1.1225	10	0.41790	T	0.15	.	11.7606	0.51900	0.0:0.82:0.18:0.0	.	374;374	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	K	374;374;374;289	ENSP00000343581:R374K;ENSP00000422930:R374K;ENSP00000375988:R374K	ENSP00000343581:R374K	R	-	2	0	ZFP30	42818161	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.472000	0.22116	2.175000	0.68902	0.591000	0.81541	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	protein_coding	OTTHUMT00000109601.2	C	NM_014898	-		38126321	-1	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	SNP	0.996	T	T	38126321	C	T	38126321	3	4	89	1	0	0	0	0	1	0	0	0	17651	913	32	2	442	2	ZFP30	19	38126321	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	22318489	38126321	21002662	43	5040											
PSG1	5669	genome.wustl.edu	37	chr19	43373052	43373052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctttaccctgggactgaCcgggaggctctgaccattta	11	12	1	2	rs377302599		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:43373052C>A	ENST00000436291.2	-	4	960	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F	PSG1_ENST00000595356.1_Missense_Mutation_p.V282F|PSG1_ENST00000312439.6_Missense_Mutation_p.V282F|PSG1_ENST00000244296.2_Missense_Mutation_p.V282F|PSG1_ENST00000595124.1_Missense_Mutation_p.V189F|PSG1_ENST00000403380.3_Missense_Mutation_p.V189F	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	282	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTGGGACTGACCGGGAGGCTC	0.473																																																	0								ENSG00000231924						32	39	37					19																	43373052		1502	2692	4194	PSG1	SO:0001583	missense	0			-	HGNC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.844G>T	19.37:g.43373052C>A	ENSP00000413041:p.Val282Phe	Somatic	0	209	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	79	47.33	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V282F	ENST00000436291.2	37	c.844	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.125049	0.01770	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	1.63	0.488	0.16848	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17492	0.0420	M	0.64170	1.965	0.09310	N	1	B;B;B;B;B;B;B	0.30605	0.01;0.049;0.287;0.028;0.046;0.087;0.044	B;B;B;B;B;B;B	0.41666	0.06;0.111;0.363;0.087;0.127;0.168;0.093	T	0.36986	-0.9725	9	0.38643	T	0.18	.	4.0031	0.09588	0.0:0.7512:0.0:0.2488	.	282;189;282;189;282;154;282	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;B4DTG5;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	F	282;189;282;282	ENSP00000413041:V282F;ENSP00000385386:V189F;ENSP00000308970:V282F;ENSP00000244296:V282F	ENSP00000244296:V282F	V	-	1	0	PSG1	48064892	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.800000	0.04555	0.008000	0.14787	0.195000	0.17529	GTC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	protein_coding	OTTHUMT00000321426.1	C		-		43373052	-1	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	SNP	0.000	A	A	43373052	C	A	43373052	3	1	89	1	0	0	0	0	1	0	0	0	12658	507	18	3	480	3	PSG1	19	43373052	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	5246731	43373052	15755931	44	5041											
CGB	1082	genome.wustl.edu	37	chr19	49526360	49526360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccacggggttcacgccgCgcgggcagccagggagccgg	18	14	1	1			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:49526360C>T	ENST00000357383.4	-	3	642	c.281G>A	c.(280-282)cGc>cAc	p.R94H	CTB-60B18.6_ENST00000591656.1_Missense_Mutation_p.R80H	NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	94					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTTCACGCCGCGCGGGCAGCC	0.697																																																	0								ENSG00000104827						1	1	1					19																	49526360		404	1078	1482	CGB	SO:0001583	missense	0			-	HGNC	J00117	CCDS12749.1	19q13.3	2013-02-25				ENSG00000104827		"Endogenous ligands"	1886	protein-coding gene	gene with protein product		118860				6774259, 6194155	Standard	NM_000737		Approved	CGB3	uc002plv.2	P01233		ENST00000357383.4:c.281G>A	19.37:g.49526360C>T	ENSP00000349954:p.Arg94His	Somatic	0	41	0		0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	7	75.86	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP							pfam_Cys_knot,smart_Gonadotropin_bsu	p.R94H	ENST00000357383.4	37	c.281	CCDS12749.1	19	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981286	0.34942	.	.	ENSG00000104827	ENST00000448402;ENST00000357383	D	0.91011	-2.77	1.8	0.676	0.17958	.	0.120878	0.56097	D	0.000026	D	0.89283	0.6671	.	.	.	0.22017	N	0.99942	.	.	.	.	.	.	T	0.82739	-0.0308	7	0.87932	D	0	-6.8125	8.1145	0.30935	0.0:0.2573:0.7427:0.0	.	.	.	.	H	97;94	ENSP00000349954:R94H	ENSP00000349954:R94H	R	-	2	0	CGB	54218172	0.980000	0.34600	0.963000	0.40424	0.011000	0.07611	2.839000	0.48207	0.321000	0.23259	-1.188000	0.01700	CGC	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.697	CGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB	protein_coding	OTTHUMT00000452164.2	C	NM_000737	-		49526360	-1	no_errors	ENST00000357383	ensembl	human	known	74_37	missense	SNP	0.993	T	T	49526360	C	T	49526360	3	4	89	1	0	0	0	0	1	0	0	0	3298	768	27	1	220	1	CGB	19	49526360	Missense_Mutation	SNP	C	TCGA-DX-A7EQ-01A-11D-A387-09	6153308	49526360	9602623	45	5042											
ZNF444	55311	genome.wustl.edu	37	chr19	56671273	56671281	+	In_Frame_Del	DEL	CCCCGGCAG	CCCCGGCAG	-													cggcgccaccgcgacacgcaCcccggcagccccggcagccc					rs371421706|rs60359254	byFrequency	TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	CCCCGGCAG	CCCCGGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:56671273_56671281delCCCCGGCAG	ENST00000337080.3	+	5	1054_1062	c.687_695delCCCCGGCAG	c.(685-696)caccccggcagc>cac	p.PGS233del	ZNF444_ENST00000592949.1_In_Frame_Del_p.PGS232del|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	233					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)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCGACACGCACCCCGGCAGCCCCGGCAGC	0.746														97	0.019369	0.028	0.013	5008	,	,		9074	0.0129		0.0328	False		,,,				2504	0.0051																0								ENSG00000167685			57,1581		23,11,785						3.3	1		dbSNP_129	2	164,3494		53,58,1718	no	coding	ZNF444	NM_018337.2		76,69,2503	A1A1,A1R,RR		4.4833,3.4799,4.173				221,5075				ZNF444	SO:0001651	inframe_deletion	0				HGNC	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.687_695delCCCCGGCAG	19.37:g.56671282_56671290delCCCCGGCAG	ENSP00000338860:p.Pro233_Ser235del	Somatic					0.554249442223842				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8TEQ9|Q8WU35|Q9NUU1	In_Frame_Del	DEL							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.PGS233in_frame_del	ENST00000337080.3	37	c.687_695	CCDS12939.1	19																																																																																			-	pfscan_Znf_C2H2		0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF444	protein_coding	OTTHUMT00000457503.1	CCCCGGCAG	NM_018337			56671281	1	no_errors	ENST00000337080	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.996:0.995:0.994:0.994:0.994:0.994:0.995:0.997	-	-	56671281	CCCCGGCAG	-	56671273	7	5	89	1	0	1	0	1	0	0	0	0	17924	506	18	0	697	0	ZNF444	19	56671273	In_Frame_Del	DEL	CCCCGGCAG	TCGA-DX-A7EQ-01A-11D-A387-09	7144913	56671273	2457710	46	5043											
C1orf159	54991	genome.wustl.edu	37	chr1	1021377	1021377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaggaagagggaggcgGccacgcgcggagcccctgca	17	14	0	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:1021377G>T	ENST00000379339.1	-	9	644	c.434C>A	c.(433-435)gCc>gAc	p.A145D	C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.A109D|C1orf159_ENST00000448924.1_Missense_Mutation_p.A145D|C1orf159_ENST00000379319.1_Missense_Mutation_p.A109D|C1orf159_ENST00000437760.1_Missense_Mutation_p.A109D|C1orf159_ENST00000421241.2_Missense_Mutation_p.A109D|C1orf159_ENST00000379320.1_Missense_Mutation_p.A109D			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	145						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGGAGGCGGCCACGCGCGG	0.667																																																	0								ENSG00000131591						52	53	52					1																	1021377		2203	4300	6503	C1orf159	SO:0001583	missense	0			-	HGNC	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.434C>A	1.37:g.1021377G>T	ENSP00000368644:p.Ala145Asp	Somatic	0	42	0		0.473291439996773	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP							NULL	p.A145D	ENST00000379339.1	37	c.434		1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601685	0.46423	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.53	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.73962	2.25	0.50467	D	0.999876	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.999	D;D;D;D;D	0.74023	0.925;0.982;0.977;0.982;0.925	T	0.69308	-0.5179	9	0.87932	D	0	-7.6332	7.8186	0.29274	0.2208:0.0:0.7792:0.0	.	109;145;109;109;109	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	D	145;145;109;109;109;109;109;120;109	.	ENSP00000294576:A109D	A	-	2	0	C1orf159	1011240	0.997000	0.39634	0.311000	0.25182	0.025000	0.11179	2.616000	0.46376	0.322000	0.23283	0.491000	0.48974	GCC	-	NULL		0.667	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf159	protein_coding	OTTHUMT00000001851.2	G	NM_017891	-		1021377	-1	no_errors	ENST00000379339	ensembl	human	known	74_37	missense	SNP	0.972	T	T	1021377	G	T	1021377	3	4	90	1	0	0	0	0	1	0	0	0	2010	1203	42	3	286	3	C1orf159	1	1021377	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		1021377	248229244	1	5044											
COL11A1	1301	genome.wustl.edu	37	chr1	103404612	103404612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcccttgtcacccttGctgcctttttgtcccggctc	6	16	2	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:103404612G>A	ENST00000370096.3	-	44	3729	c.3417C>T	c.(3415-3417)agC>agT	p.S1139S	COL11A1_ENST00000512756.1_Silent_p.S1023S|COL11A1_ENST00000353414.4_Silent_p.S1100S|COL11A1_ENST00000358392.2_Silent_p.S1151S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1139	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCACCCTTGCTGCCTTTTT	0.328																																																	0								ENSG00000060718						156	156	156					1																	103404612		2203	4300	6503	COL11A1	SO:0001819	synonymous_variant	0			-	HGNC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3417C>T	1.37:g.103404612G>A		Somatic	0	81	0		0.473291439996773	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.S1151	ENST00000370096.3	37	c.3453	CCDS778.1	1																																																																																			-	NULL		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	G	NM_080630	-		103404612	-1	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	SNP	1.000	A	A	103404612	G	A	103404612	2	1	90	1	0	0	0	0	0	0	0	1	3669	1310	46	2		2	COL11A1	1	103404612	Silent	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	102383235	103404612	145846009	2	5045											
CELSR2	1952	genome.wustl.edu	37	chr1	109794550	109794550	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacccaaccagagtacacaGtgcggctcaatgaggatgca	10	11	1	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:109794550G>T	ENST00000271332.3	+	1	1910	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	617	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGAGTACACAGTGCGGCTCAA	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						172	150	158					1																	109794550		2203	4300	6503	CELSR2	SO:0001583	missense	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1849G>T	1.37:g.109794550G>T	ENSP00000271332:p.Val617Leu	Somatic	0	82	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5T2Y7|Q92566	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V617L	ENST00000271332.3	37	c.1849	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	8.480	0.859603	0.17178	.	.	ENSG00000143126	ENST00000271332	T	0.01584	4.75	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00552	0.0018	L	0.35854	1.095	0.31312	N	0.686983	B	0.06786	0.001	B	0.06405	0.002	T	0.48433	-0.9036	9	0.07990	T	0.79	.	7.2426	0.26104	0.1285:0.1577:0.7138:0.0	.	617	Q9HCU4	CELR2_HUMAN	L	617	ENSP00000271332:V617L	ENSP00000271332:V617L	V	+	1	0	CELSR2	109596073	0.059000	0.20769	0.981000	0.43875	0.876000	0.50452	0.460000	0.21924	2.600000	0.87896	0.650000	0.86243	GTG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	G	NM_001408	-		109794550	1	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	SNP	0.955	T	T	109794550	G	T	109794550	3	4	90	1	0	0	0	0	1	0	0	0	3224	1029	36	3	1851	3	CELSR2	1	109794550	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	6389938	109794550	139456071	3	5046											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144868067	144868067	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcccagttctatggtgcccCttggaggagagtgaggctgg	15	9	1	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:144868067C>G	ENST00000369354.3	-	33	5561	c.5372G>C	c.(5371-5373)aGg>aCg	p.R1791T	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1927T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1876T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1685T|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1791T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1791					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATGGTGCCCCTTGGAGGAGA	0.557			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								ENSG00000178104						184	192	189					1																	144868067		2203	4296	6499	PDE4DIP	SO:0001583	missense	0			-	HGNC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5372G>C	1.37:g.144868067C>G	ENSP00000358360:p.Arg1791Thr	Somatic	0	153	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	118	18.62	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP							pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R1791T	ENST00000369354.3	37	c.5372	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	0.820	-0.748914	0.03065	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01584	4.75;4.85;4.85;4.84;4.85	5.44	4.52	0.55395	.	.	.	.	.	T	0.00724	0.0024	L	0.46157	1.445	0.34958	D	0.751949	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.38200	-0.9672	9	0.08599	T	0.76	.	12.0401	0.53448	0.0:0.8268:0.1732:0.0	.	1685;1791	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	T	1685;1791;1791;1876;1927	ENSP00000327209:R1685T;ENSP00000358360:R1791T;ENSP00000358363:R1791T;ENSP00000435654:R1876T;ENSP00000358366:R1927T	ENSP00000327209:R1685T	R	-	2	0	PDE4DIP	143579424	0.010000	0.17322	0.009000	0.14445	0.010000	0.07245	1.701000	0.37825	1.508000	0.48769	0.650000	0.86243	AGG	-	NULL		0.557	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	C	NM_022359	-		144868067	-1	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	SNP	0.013	G	G	144868067	C	G	144868067	3	3	90	1	0	0	0	0	1	0	0	0	11645	681	24	4	1716	4	PDE4DIP	1	144868067	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	35073517	144868067	104382554	4	5047											
TCHH	7062	genome.wustl.edu	37	chr1	152085283	152085283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgcctcttctgcctgCgtcgttgcccaggttcttct	9	15	4	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:152085283C>T	ENST00000368804.1	-	2	409	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	137					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCCTGCGTCGTTGCCC	0.572																																																	0								ENSG00000159450						251	248	249					1																	152085283		2038	4182	6220	TCHH	SO:0001583	missense	0			-	HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.410G>A	1.37:g.152085283C>T	ENSP00000357794:p.Arg137His	Somatic	0	51	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	15	54.55	Q5VUI3	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R137H	ENST00000368804.1	37	c.410	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	2.759	-0.258258	0.05791	.	.	ENSG00000159450	ENST00000368804	T	0.06371	3.31	5.01	-1.36	0.09085	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.46965	-0.9153	9	0.34782	T	0.22	-0.6981	5.8919	0.18917	0.0:0.3852:0.1359:0.4789	.	137	Q07283	TRHY_HUMAN	H	137	ENSP00000357794:R137H	ENSP00000357794:R137H	R	-	2	0	TCHH	150351907	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.240000	0.08952	-0.153000	0.11137	-1.189000	0.01698	CGC	-	NULL		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	C	NM_007113	-		152085283	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152085283	C	T	152085283	3	4	90	1	0	0	0	0	1	0	0	0	15707	768	27	1	5425	1	TCHH	1	152085283	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	7217216	152085283	97165338	5	5048											
LOR	4014	genome.wustl.edu	37	chr1	153233991	153233992	+	In_Frame_Ins	INS	-	-	CTCTGGCGGCGG													ggcggctctgtctgcggctaINSctctggcggcggctctggct					rs11272549|rs547333583|rs561634896	byFrequency	TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:153233991_153233992insCTCTGGCGGCGG	ENST00000368742.3	+	2	623_624	c.566_567insCTCTGGCGGCGG	c.(565-570)tactct>taCTCTGGCGGCGGctct	p.194_195insGGGS		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	194					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggcg	0.743														3247	0.648363	0.6664	0.7954	5008	,	,		5032	0.4563		0.7147	False		,,,				2504	0.6493																0								ENSG00000203782			178,190		86,6,92						-7.1	0		dbSNP_120	1	749,435		350,49,193	no	coding	LOR	NM_000427.2		436,55,285	A1A1,A1R,RR		36.7399,48.3696,40.2706				927,625				LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.567_578dupCTCTGGCGGCGG	1.37:g.153233991_153233992insCTCTGGCGGCGG	ENSP00000357731:p.Gly191_Ser194dup	Somatic					0.473291439996773	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T869|Q5XKF8	In_Frame_Ins	INS							NULL	p.193in_frame_insGSGG	ENST00000368742.3	37	c.566_567	CCDS30870.1	1																																																																																			-	NULL		0.743	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233992	1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.014:0.200	CTCTGGCGGCGG	CTCTGGCGGCGG	153233992	-	CTCTGGCGGCGG	153233991	7	5	90	1	0	1	1	0	0	0	0	0	8899	391	14	0	568	0	LOR	1	153233991	In_Frame_Ins	INS	-	TCGA-DX-A7ER-01A-11D-A36J-09	1148708	153233991	96016630	6	5049											
OBSCN	84033	genome.wustl.edu	37	chr1	228494137	228494137	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagggctccacggccacCctgcagtgtgagctgtctga	15	12	1	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr1:228494137C>A	ENST00000422127.1	+	44	11768	c.11724C>A	c.(11722-11724)acC>acA	p.T3908T	OBSCN_ENST00000366707.4_Silent_p.T1542T|OBSCN_ENST00000366709.4_Silent_p.T1027T|OBSCN_ENST00000570156.2_Silent_p.T4865T|OBSCN_ENST00000284548.11_Silent_p.T3908T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3908	Ig-like 40.				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)				CCACGGCCACCCTGCAGTGTG	0.687																																																	0								ENSG00000154358						15	17	17					1																	228494137		1927	4095	6022	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.11724C>A	1.37:g.228494137C>A		Somatic	0	24	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T3908	ENST00000422127.1	37	c.11724	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228494137	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.006	A	A	228494137	C	A	228494137	2	1	90	1	0	0	0	0	0	0	0	1	10814	610	22	3		3	OBSCN	1	228494137	Silent	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	75260146	228494137	20756484	7	5050											
STRN	6801	genome.wustl.edu	37	chr2	37111108	37111108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaatttcatgttcaggaaGcctggagctgctgggtctgg	13	7	3	0	rs541490607		TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr2:37111108G>T	ENST00000263918.4	-	9	1161	c.1153C>A	c.(1153-1155)Ctt>Att	p.L385I	STRN_ENST00000379213.2_Missense_Mutation_p.L336I	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	385					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)			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)				TGTTCAGGAAGCCTGGAGCTG	0.393																																																	0								ENSG00000115808						88	81	83					2																	37111108		2203	4300	6503	STRN	SO:0001583	missense	0			-	HGNC	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.1153C>A	2.37:g.37111108G>T	ENSP00000263918:p.Leu385Ile	Somatic	0	39	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP							pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L385I	ENST00000263918.4	37	c.1153	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619147	0.28801	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.64803	-0.12;-0.07	5.63	4.73	0.59995	.	0.184614	0.49305	D	0.000153	T	0.42698	0.1214	N	0.14661	0.345	0.44129	D	0.996912	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.008	T	0.23833	-1.0177	10	0.20519	T	0.43	-8.5338	11.293	0.49261	0.0:0.1376:0.7194:0.1429	.	336;385	O43815-2;O43815	.;STRN_HUMAN	I	385;360;336	ENSP00000263918:L385I;ENSP00000368513:L336I	ENSP00000263918:L385I	L	-	1	0	STRN	36964612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.793000	0.47845	1.308000	0.44962	0.650000	0.86243	CTT	-	NULL		0.393	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	protein_coding	OTTHUMT00000218568.1	G		-		37111108	-1	no_errors	ENST00000263918	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37111108	G	T	37111108	3	4	90	1	0	0	0	0	1	0	0	0	15336	971	34	3	1229	3	STRN	2	37111108	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		37111108	206088265	8	5051											
ERLEC1	27248	genome.wustl.edu	37	chr2	54041683	54041683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctctgattcaggatGgtgtcacatttttatggaaa	10	5	3	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr2:54041683G>T	ENST00000185150.4	+	12	1361	c.1230G>T	c.(1228-1230)atG>atT	p.M410I	ERLEC1_ENST00000378239.5_Missense_Mutation_p.M356I|ERLEC1_ENST00000405123.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	410	PRKCSH 2.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GATTCAGGATGGTGTCACATT	0.338																																																	0								ENSG00000068912						83	86	85					2																	54041683		2203	4299	6502	ERLEC1	SO:0001583	missense	0			-	HGNC	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1230G>T	2.37:g.54041683G>T	ENSP00000185150:p.Met410Ile	Somatic	0	50	0		0.473291439996773	76	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.M410I	ENST00000185150.4	37	c.1230	CCDS1848.1	2	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652766	0.29336	.	.	ENSG00000068912	ENST00000185150;ENST00000378239	T;T	0.03717	3.83;3.83	4.95	4.95	0.65309	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.205916	0.52532	D	0.000062	T	0.04861	0.0131	.	.	.	0.30107	N	0.806926	B;B	0.31485	0.325;0.27	B;B	0.29862	0.108;0.085	T	0.08146	-1.0736	9	0.51188	T	0.08	-13.8967	16.7544	0.85495	0.0:0.0:1.0:0.0	.	356;410	Q96DZ1-2;Q96DZ1	.;ERLEC_HUMAN	I	410;356	ENSP00000185150:M410I;ENSP00000367485:M356I	ENSP00000185150:M410I	M	+	3	0	ERLEC1	53895187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.455000	0.83008	0.561000	0.74099	ATG	-	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom		0.338	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	protein_coding	OTTHUMT00000251404.1	G	NM_015701	-		54041683	1	no_errors	ENST00000185150	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54041683	G	T	54041683	3	4	90	1	0	0	0	0	1	0	0	0	5233	1348	47	3	1276	3	ERLEC1	2	54041683	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	16930575	54041683	189157690	9	5052											
SLC26A6	65010	genome.wustl.edu	37	chr3	48667882	48667882	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggctcaccttgggcaggtCatggaagagttccccaagtt	14	10	2	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr3:48667882C>A	ENST00000395550.2	-	11	1362	c.1315G>T	c.(1315-1317)Gac>Tac	p.D439Y	SLC26A6_ENST00000420764.2_Missense_Mutation_p.D439Y|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D403Y|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D418Y|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D332Y|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D439Y|SLC26A6_ENST00000482282.1_5'Flank			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	439					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TTGGGCAGGTCATGGAAGAGT	0.587																																					NSCLC(13;369 479 28271 30152 44026)												0								ENSG00000225697						46	53	51					3																	48667882		1973	4123	6096	SLC26A6	SO:0001583	missense	0			-	HGNC	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1315G>T	3.37:g.48667882C>A	ENSP00000378920:p.Asp439Tyr	Somatic	0	92	0		0.473291439996773	14	26.32	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	35	45.31	B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.D439Y	ENST00000395550.2	37	c.1315	CCDS43087.1	3	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988187	0.35036	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.6	2.67	0.31697	Sulphate transporter (1);	.	.	.	.	D	0.89815	0.6824	N	0.25647	0.755	0.09310	N	0.999999	D;B;D;P;D;D;P	0.67145	0.996;0.045;0.981;0.896;0.98;0.958;0.81	D;B;D;P;D;D;B	0.71184	0.972;0.029;0.935;0.745;0.935;0.935;0.34	T	0.79313	-0.1855	9	0.66056	D	0.02	.	5.3201	0.15876	0.1377:0.5228:0.2667:0.0728	.	403;452;332;439;439;439;3844	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	Y	439;439;439;332;452;418;403;247	ENSP00000404684:D439Y;ENSP00000378920:D439Y;ENSP00000373239:D439Y;ENSP00000337648:D332Y;ENSP00000351597:D418Y;ENSP00000401066:D403Y;ENSP00000389922:D247Y	ENSP00000337648:D332Y	D	-	1	0	SLC26A6	48642886	0.201000	0.23410	0.453000	0.27007	0.345000	0.29048	0.608000	0.24223	0.694000	0.31654	0.655000	0.94253	GAC	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.587	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC26A6	protein_coding	OTTHUMT00000345040.1	C	NM_022911	-		48667882	-1	no_errors	ENST00000395550	ensembl	human	known	74_37	missense	SNP	0.079	A	A	48667882	C	A	48667882	3	1	90	1	0	0	0	0	1	0	0	0	14529	826	29	3	1044	3	SLC26A6	3	48667882	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09		48667882	149354548	10	5053											
DNAH12	201625	genome.wustl.edu	37	chr3	57445409	57445409	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttctggcatctgttgcatGatatcctcagaacaaaagat	7	9	4	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr3:57445409G>T	ENST00000351747.2	-	20	2952	c.2772C>A	c.(2770-2772)atC>atA	p.I924I		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	924	Stem. {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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTGTTGCATGATATCCTCAG	0.413																																																	0								ENSG00000174844						197	153	166					3																	57445409		692	1591	2283	DNAH12	SO:0001819	synonymous_variant	0			-	HGNC	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2772C>A	3.37:g.57445409G>T		Somatic	0	89	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I924	ENST00000351747.2	37	c.2772		3																																																																																			-	pfam_Dynein_heavy_dom-2		0.413	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	protein_coding		G	NM_178504	-		57445409	-1	no_errors	ENST00000351747	ensembl	human	known	74_37	silent	SNP	0.999	T	T	57445409	G	T	57445409	2	4	90	1	0	0	0	0	0	0	0	1	4602	1280	45	3		3	DNAH12	3	57445409	Silent	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	8777527	57445409	140577021	11	5054											
ACOX2	8309	genome.wustl.edu	37	chr3	58514611	58514611	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgccaggaaatggaaggcAtaactgatggccagctgagg	14	8	0	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr3:58514611A>C	ENST00000302819.5	-	9	1356	c.1065T>G	c.(1063-1065)taT>taG	p.Y355*	ACOX2_ENST00000459701.2_Nonsense_Mutation_p.Y341*	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	355					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AATGGAAGGCATAACTGATGG	0.507																																																	0								ENSG00000168306						135	128	130					3																	58514611		2203	4300	6503	ACOX2	SO:0001587	stop_gained	0			-	HGNC	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1065T>G	3.37:g.58514611A>C	ENSP00000307697:p.Tyr355*	Somatic	0	97	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	29	53.23	A6NF16|B2R8U5	Nonsense_Mutation	SNP							pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.Y355*	ENST00000302819.5	37	c.1065	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	A	38	6.732831	0.97796	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	.	.	.	5.08	-5.89	0.02282	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.2052	15.3923	0.74755	0.4504:0.0:0.5496:0.0	.	.	.	.	X	341;355	.	ENSP00000307697:Y355X	Y	-	3	2	ACOX2	58489651	0.055000	0.20627	0.388000	0.26195	0.945000	0.59286	-0.855000	0.04295	-1.009000	0.03400	-0.441000	0.05720	TAT	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.507	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	protein_coding	OTTHUMT00000353541.1	A		-		58514611	-1	no_errors	ENST00000302819	ensembl	human	known	74_37	nonsense	SNP	0.874	C	C	58514611	A	C	58514611	4	2	90	1	0	0	0	0	0	1	0	0	159	224	8	5	1008	5	ACOX2	3	58514611	Nonsense_Mutation	SNP	A	TCGA-DX-A7ER-01A-11D-A36J-09	1069202	58514611	139507819	12	5055											
ROBO2	6092	genome.wustl.edu	37	chr3	77614263	77614263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccatgtcagatcctgtgcGcacacaaggtactttcaaca	7	13	2	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr3:77614263G>A	ENST00000461745.1	+	12	2741	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	ROBO2_ENST00000487694.3_Missense_Mutation_p.R630H|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.R614H(1)|p.R630H(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATCCTGTGCGCACACAAGGT	0.468																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000185008						127	125	126					3																	77614263		1967	4155	6122	ROBO2	SO:0001583	missense	0			-	HGNC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1841G>A	3.37:g.77614263G>A	ENSP00000417164:p.Arg614His	Somatic	0	97	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	32	58.44	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R614H	ENST00000461745.1	37	c.1841	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.323084	0.95708	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	D;D;D	0.82711	-1.64;-1.64;-1.64	6.02	6.02	0.97574	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000320	D	0.91287	0.7253	M	0.71581	2.175	0.40145	D	0.976884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.90917	0.4780	9	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	630;614;614	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	630;630;634;614;614;335	ENSP00000417335:R630H;ENSP00000417164:R614H;ENSP00000327536:R614H	ENSP00000327536:R614H	R	+	2	0	ROBO2	77696953	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	CGC	-	superfamily_Fibronectin_type3		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000352600.2	G	XM_031246	-		77614263	1	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77614263	G	A	77614263	3	1	90	1	0	0	0	0	1	0	0	0	13522	1087	38	1	1889	1	ROBO2	3	77614263	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	19099652	77614263	120408167	13	5056											
GPM6A	2823	genome.wustl.edu	37	chr4	176556169	176556169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccggcaggcgtctttcaCataggcccagttggcagaca	11	13	2	1	rs1049820	byFrequency	TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr4:176556169C>A	ENST00000280187.7	-	8	769	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	GPM6A_ENST00000506894.1_Missense_Mutation_p.V231L|GPM6A_ENST00000393658.2_Missense_Mutation_p.V242L|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_Missense_Mutation_p.V235L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	242			V -> L (in dbSNP:rs1049820).		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)		GCGTCTTTCACATAGGCCCAG	0.438																																																	0								ENSG00000150625						83	77	79					4																	176556169		2203	4300	6503	GPM6A	SO:0001583	missense	0			-	HGNC		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.724G>T	4.37:g.176556169C>A	ENSP00000280187:p.Val242Leu	Somatic	0	20	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP							pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.V242L	ENST00000280187.7	37	c.724	CCDS3824.1	4	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566063	0.27915	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	N	0.00771	-1.2	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12837	0.007;0.007;0.008	D	0.89068	0.3467	10	0.02654	T	1	-19.8899	20.3627	0.98863	0.0:1.0:0.0:0.0	rs1049820;rs1803466;rs3189995;rs1049820	235;231;242	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	L	242;242;231;235	ENSP00000280187:V242L;ENSP00000377268:V242L;ENSP00000421578:V231L;ENSP00000423984:V235L	ENSP00000280187:V242L	V	-	1	0	GPM6A	176793163	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	GTG	-	pfam_Myelin_PLP		0.438	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	protein_coding	OTTHUMT00000362163.1	C		rs1049820		176556169	-1	no_errors	ENST00000280187	ensembl	human	known	74_37	missense	SNP	1.000	A	A	176556169	C	A	176556169	3	1	90	1	0	0	0	0	1	0	0	0	6617	478	17	3	116	3	GPM6A	4	176556169	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09		176556169	14598107	14	5057											
TRPC7	57113	genome.wustl.edu	37	chr5	135692561	135692561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatactcctggcagtgcGccgccaggatgatgggcgtg	14	12	1	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr5:135692561G>A	ENST00000513104.1	-	2	797	c.515C>T	c.(514-516)gCg>gTg	p.A172V	TRPC7_ENST00000355180.3_Missense_Mutation_p.A172V|TRPC7_ENST00000426057.2_Missense_Mutation_p.A172V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	172					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGCAGTGCGCCGCCAGGAT	0.632																																																	0								ENSG00000069018						128	137	134					5																	135692561		2203	4300	6503	TRPC7	SO:0001583	missense	0			-	HGNC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.515C>T	5.37:g.135692561G>A	ENSP00000426070:p.Ala172Val	Somatic	0	27	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A172V	ENST00000513104.1	37	c.515	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	34	5.335741	0.95758	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.72725	-0.68;-0.68;-0.68	5.26	5.26	0.73747	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.85225	0.5648	M	0.80616	2.505	0.47737	D	0.999508	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.75020	0.97;0.985;0.965;0.965	D	0.86781	0.1979	10	0.87932	D	0	-16.9024	19.0783	0.93171	0.0:0.0:1.0:0.0	.	172;172;172;172	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	V	172	ENSP00000347312:A172V;ENSP00000441628:A172V;ENSP00000426070:A172V	ENSP00000265193:A172V	A	-	2	0	TRPC7	135720460	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	9.657000	0.98554	2.731000	0.93534	0.650000	0.86243	GCG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel		0.632	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	G	NM_020389	-		135692561	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135692561	G	A	135692561	3	1	90	1	0	0	0	0	1	0	0	0	16591	1087	38	1	2117	1	TRPC7	5	135692561	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		135692561	45222699	15	5058											
HIST1H1D	3007	genome.wustl.edu	37	chr6	26234678	26234678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccagcagcggttgctgGcttctttaccttcttaggag	12	11	2	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr6:26234678G>T	ENST00000244534.5	-	1	538	c.484C>A	c.(484-486)Cca>Aca	p.P162T		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	162					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCGGTTGCTGGCTTCTTTACC	0.537																																																	0								ENSG00000124575						95	102	99					6																	26234678		2203	4300	6503	HIST1H1D	SO:0001583	missense	0			-	HGNC	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.484C>A	6.37:g.26234678G>T	ENSP00000244534:p.Pro162Thr	Somatic	0	60	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B2R751|Q2M2I2	Missense_Mutation	SNP							pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.P162T	ENST00000244534.5	37	c.484	CCDS4597.1	6	.	.	.	.	.	.	.	.	.	.	.	9.356	1.066761	0.20067	.	.	ENSG00000124575	ENST00000244534	T	0.25414	1.8	5.22	4.35	0.52113	.	0.057257	0.64402	D	0.000001	T	0.06645	0.0170	N	0.08118	0	0.50039	D	0.999845	B	0.30851	0.297	B	0.33890	0.172	T	0.21484	-1.0244	10	0.21014	T	0.42	-16.0129	15.3421	0.74306	0.0:0.1402:0.8598:0.0	.	162	P16402	H13_HUMAN	T	162	ENSP00000244534:P162T	ENSP00000244534:P162T	P	-	1	0	HIST1H1D	26342657	1.000000	0.71417	0.889000	0.34880	0.011000	0.07611	4.080000	0.57620	1.348000	0.45733	-0.156000	0.13503	CCA	-	NULL		0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1D	protein_coding	OTTHUMT00000040095.1	G	NM_005320	-		26234678	-1	no_errors	ENST00000244534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26234678	G	T	26234678	3	4	90	1	0	0	0	0	1	0	0	0	7127	1203	42	3	185	3	HIST1H1D	6	26234678	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		26234678	144880389	16	5059											
OR10C1	442194	genome.wustl.edu	37	chr6	29408456	29408456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcctacgggcgtatcctcGttaccatcttccggatccca	8	16	1	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr6:29408456G>T	ENST00000444197.2	+	1	1374	c.664G>T	c.(664-666)Gtt>Ttt	p.V222F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGTATCCTCGTTACCATCTT	0.587																																																	0								ENSG00000206474						206	222	216					6																	29408456		1511	2709	4220	OR10C1	SO:0001583	missense	0			-	HGNC		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.664G>T	6.37:g.29408456G>T	ENSP00000419119:p.Val222Phe	Somatic	0	61	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	18	55.00	Q5SUN7|Q96R18	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V222F	ENST00000444197.2	37	c.664	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	G	0.290	-0.980684	0.02197	.	.	ENSG00000206474	ENST00000444197	T	0.37235	1.21	3.49	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.408635	0.17808	N	0.161305	T	0.10121	0.0248	L	0.38692	1.165	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.32241	-0.9914	10	0.19147	T	0.46	.	8.7036	0.34340	0.199:0.0:0.801:0.0	.	222	Q96KK4	O10C1_HUMAN	F	222	ENSP00000419119:V222F	ENSP00000419119:V222F	V	+	1	0	OR10C1	29516435	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.396000	0.02513	0.680000	0.31366	-0.216000	0.12614	GTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	protein_coding	OTTHUMT00000076415.2	G		-		29408456	1	no_errors	ENST00000444197	ensembl	human	known	74_37	missense	SNP	0.005	T	T	29408456	G	T	29408456	3	4	90	1	0	0	0	0	1	0	0	0	10900	1145	40	3	666	3	OR10C1	6	29408456	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	3173778	29408456	141706611	17	5060											
LAMB1	3912	genome.wustl.edu	37	chr7	107601660	107601660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcgcacttacagaatcgatCagcgtgtaggggctctccac	10	13	2	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr7:107601660C>T	ENST00000222399.6	-	17	2330	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	LAMB1_ENST00000393561.1_Silent_p.L724L|LAMB1_ENST00000393560.1_Silent_p.L700L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	700	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAGAATCGATCAGCGTGTAGG	0.552																																																	0								ENSG00000091136						120	108	112					7																	107601660		2203	4300	6503	LAMB1	SO:0001819	synonymous_variant	0			-	HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2100G>A	7.37:g.107601660C>T		Somatic	0	81	0		0.473291439996773	10	52.38	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	Q14D91	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L700	ENST00000222399.6	37	c.2100	CCDS5750.1	7																																																																																			-	pfscan_Laminin_IV		0.552	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	C	NM_002291	-		107601660	-1	no_errors	ENST00000222399	ensembl	human	known	74_37	silent	SNP	0.963	T	T	107601660	C	T	107601660	2	4	90	1	0	0	0	0	0	0	0	1	8612	813	29	2		2	LAMB1	7	107601660	Silent	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09		107601660	51537003	18	5061											
TMEM74	157753	genome.wustl.edu	37	chr8	109797134	109797134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagaggaggagggggatGctggagaagaactaagttta	18	3	0	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr8:109797134G>A	ENST00000297459.3	-	2	372	c.194C>T	c.(193-195)gCa>gTa	p.A65V	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	65					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGAGGGGGATGCTGGAGAAGA	0.512																																																	0								ENSG00000164841						122	122	122					8																	109797134		2203	4300	6503	TMEM74	SO:0001583	missense	0			-	HGNC	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.194C>T	8.37:g.109797134G>A	ENSP00000297459:p.Ala65Val	Somatic	0	72	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	44	43.59		Missense_Mutation	SNP							NULL	p.A65V	ENST00000297459.3	37	c.194	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	G	2.063	-0.414932	0.04766	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.9	2.01	0.26516	.	0.562189	0.19115	N	0.122338	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.14952	-1.0454	9	0.45353	T	0.12	-1.7759	5.026	0.14385	0.199:0.0:0.5558:0.2452	.	65	Q96NL1	TMM74_HUMAN	V	65	.	ENSP00000297459:A65V	A	-	2	0	TMEM74	109866310	0.004000	0.15560	0.029000	0.17559	0.241000	0.25554	1.203000	0.32284	0.086000	0.17137	-0.136000	0.14681	GCA	-	NULL		0.512	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	protein_coding	OTTHUMT00000380755.1	G	NM_153015	-		109797134	-1	no_errors	ENST00000297459	ensembl	human	known	74_37	missense	SNP	0.000	A	A	109797134	G	A	109797134	3	1	90	1	0	0	0	0	1	0	0	0	16209	1319	46	2	727	2	TMEM74	8	109797134	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		109797134	36566888	19	5062											
NTRK2	4915	genome.wustl.edu	37	chr9	87339224	87339224	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagatctcttgtgtggcggAaaatcttgtaggagaagatc	13	6	2	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr9:87339224A>T	ENST00000323115.4	+	7	1159	c.806A>T	c.(805-807)gAa>gTa	p.E269V	NTRK2_ENST00000376214.1_Missense_Mutation_p.E269V|NTRK2_ENST00000359847.3_Missense_Mutation_p.E269V|NTRK2_ENST00000376213.1_Missense_Mutation_p.E269V|NTRK2_ENST00000395866.2_Missense_Mutation_p.E113V|NTRK2_ENST00000304053.6_Missense_Mutation_p.E269V|NTRK2_ENST00000277120.3_Missense_Mutation_p.E269V|NTRK2_ENST00000376208.1_Missense_Mutation_p.E269V|NTRK2_ENST00000395882.1_Missense_Mutation_p.E269V			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	269	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGTGTGGCGGAAAATCTTGTA	0.408										TSP Lung(25;0.17)																																							0								ENSG00000148053						219	207	211					9																	87339224		2203	4300	6503	NTRK2	SO:0001583	missense	0			-	HGNC	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.806A>T	9.37:g.87339224A>T	ENSP00000314586:p.Glu269Val	Somatic	0	96	0		0.473291439996773	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.E269V	ENST00000323115.4	37	c.806	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490587	0.84962	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051349	0.85682	D	0.000000	T	0.78515	0.4295	L	0.55743	1.74	0.58432	D	0.999999	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	D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.999;0.995;0.992;0.999;0.997	T	0.80645	-0.1290	10	0.72032	D	0.01	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	113;269;269;269;269;269;315;269	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	V	269;269;269;269;269;269;269;269;113	ENSP00000365387:E269V;ENSP00000365386:E269V;ENSP00000379221:E269V;ENSP00000365381:E269V;ENSP00000306167:E269V;ENSP00000277120:E269V;ENSP00000314586:E269V;ENSP00000352906:E269V;ENSP00000379207:E113V	ENSP00000277120:E269V	E	+	2	0	NTRK2	86529044	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.708000	0.84633	2.123000	0.65237	0.377000	0.23210	GAA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt		0.408	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	A		-		87339224	1	no_errors	ENST00000277120	ensembl	human	known	74_37	missense	SNP	1.000	T	T	87339224	A	T	87339224	3	4	90	1	0	0	0	0	1	0	0	0	10709	246	9	5	832	5	NTRK2	9	87339224	Missense_Mutation	SNP	A	TCGA-DX-A7ER-01A-11D-A36J-09		87339224	53874207	20	5063											
LCN12	286256	genome.wustl.edu	37	chr9	139849851	139849851	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggccagcgtctgttgAaggatgaagcagctcctgtc	12	13	1	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr9:139849851A>G	ENST00000371633.3	+	6	579	c.579A>G	c.(577-579)tgA>tgG	p.*193W	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	0					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCGTCTGTTGAAGGATGAAGC	0.627																																																	0								ENSG00000184925						52	61	58					9																	139849851		2093	4221	6314	LCN12	SO:0001578	stop_lost	0			-	HGNC	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.579A>G	9.37:g.139849851A>G	ENSP00000360696:p.*193Trpext*?	Somatic	0	78	0		0.473291439996773	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33	A2AMJ7	Nonstop_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_N_gelatinase	p.*193W	ENST00000371633.3	37	c.579	CCDS7018.2	9	.	.	.	.	.	.	.	.	.	.	A	9.622	1.134213	0.21123	.	.	ENSG00000184925	ENST00000371633	.	.	.	1.85	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7384	0.18079	1.0:0.0:0.0:0.0	.	.	.	.	W	193	.	.	X	+	3	0	LCN12	138969672	0.039000	0.19947	0.109000	0.21407	0.041000	0.13682	1.052000	0.30429	1.129000	0.42072	0.391000	0.25812	TGA	-	NULL		0.627	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN12	protein_coding	OTTHUMT00000257990.1	A	NM_178536	-		139849851	1	no_errors	ENST00000371633	ensembl	human	known	74_37	nonstop	SNP	0.134	G	G	139849851	A	G	139849851	4	3	90	1	0	0	0	0	0	0	0	0	8684	259	9	5	601	5	LCN12	9	139849851	Nonstop_Mutation	SNP	A	TCGA-DX-A7ER-01A-11D-A36J-09	52510627	139849851	1363580	21	5064											
ANK3	288	genome.wustl.edu	37	chr10	61835172	61835172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgactacagagtatactgGcactgttataattgatgaag	9	5	0	4			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr10:61835172G>A	ENST00000280772.2	-	37	5658	c.5467C>T	c.(5467-5469)Cca>Tca	p.P1823S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1823	Ser-rich.				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)			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						GAGTATACTGGCACTGTTATA	0.413																																																	0								ENSG00000151150						132	138	136					10																	61835172		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.5467C>T	10.37:g.61835172G>A	ENSP00000280772:p.Pro1823Ser	Somatic	0	34	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P1823S	ENST00000280772.2	37	c.5467	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236854	0.58886	.	.	ENSG00000151150	ENST00000280772	T	0.77098	-1.07	5.54	5.54	0.83059	.	0.000000	0.41823	D	0.000809	D	0.87293	0.6141	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87312	0.2312	10	0.59425	D	0.04	.	19.5542	0.95335	0.0:0.0:1.0:0.0	.	1823	Q12955	ANK3_HUMAN	S	1823	ENSP00000280772:P1823S	ENSP00000280772:P1823S	P	-	1	0	ANK3	61505178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.472000	0.97709	2.643000	0.89663	0.461000	0.40582	CCA	-	NULL		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61835172	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61835172	G	A	61835172	3	1	90	1	0	0	0	0	1	0	0	0	622	1203	42	2	8007	2	ANK3	10	61835172	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		61835172	73699575	22	5065											
CDH23	64072	genome.wustl.edu	37	chr10	73545427	73545427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcccctggaccgcgagCggatcccagagtacaagctg	13	15	0	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr10:73545427C>T	ENST00000224721.6	+	43	5772	c.5767C>T	c.(5767-5769)Cgg>Tgg	p.R1923W		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1918	Cadherin 18. {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						GGACCGCGAGCGGATCCCAGA	0.592																																																	0								ENSG00000107736						47	53	51					10																	73545427		2109	4206	6315	CDH23	SO:0001583	missense	0			-	HGNC	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.5767C>T	10.37:g.73545427C>T	ENSP00000224721:p.Arg1923Trp	Somatic	0	75	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1923W	ENST00000224721.6	37	c.5767		10	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444241	0.63067	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	1.89	0.25635	Cadherin (4);Cadherin-like (1);	0.074456	0.53938	D	0.000048	T	0.69522	0.3120	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	P	0.61722	0.893	T	0.69544	-0.5117	9	0.48119	T	0.1	.	10.3235	0.43780	0.3714:0.525:0.1036:0.0	.	1918	Q9H251	CAD23_HUMAN	W	1923;1918;1921	.	ENSP00000224721:R1923W	R	+	1	2	CDH23	73215433	1.000000	0.71417	0.989000	0.46669	0.659000	0.38960	1.214000	0.32419	0.531000	0.28639	0.455000	0.32223	CGG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	C	NM_052836	-		73545427	1	no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	73545427	C	T	73545427	3	4	90	1	0	0	0	0	1	0	0	0	3110	759	27	1	6267	1	CDH23	10	73545427	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	11710255	73545427	61989320	23	5066											
NPAS4	266743	genome.wustl.edu	37	chr11	66192048	66192048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctaccaagacttactttGcccaggagggatgcagtttt	9	11	0	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr11:66192048G>A	ENST00000311034.2	+	7	1863	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	563					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						GACTTACTTTGCCCAGGAGGG	0.587																																																	0								ENSG00000174576						102	111	108					11																	66192048		2200	4295	6495	NPAS4	SO:0001583	missense	0			-	HGNC	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.1687G>A	11.37:g.66192048G>A	ENSP00000311196:p.Ala563Thr	Somatic	0	39	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP							pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.A563T	ENST00000311034.2	37	c.1687	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506066	0.26949	.	.	ENSG00000174576	ENST00000311034	T	0.50277	0.75	4.69	1.5	0.22942	.	0.364605	0.23893	N	0.043534	T	0.18593	0.0446	N	0.08118	0	0.27821	N	0.941798	B	0.33694	0.421	B	0.30029	0.11	T	0.05084	-1.0907	10	0.30078	T	0.28	-3.1907	1.0957	0.01672	0.2215:0.1828:0.4295:0.1662	.	563	Q8IUM7	NPAS4_HUMAN	T	563	ENSP00000311196:A563T	ENSP00000311196:A563T	A	+	1	0	NPAS4	65948624	0.993000	0.37304	0.995000	0.50966	0.973000	0.67179	0.560000	0.23500	0.542000	0.28846	0.655000	0.94253	GCC	-	NULL		0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	protein_coding	OTTHUMT00000392634.1	G	NM_178864	-		66192048	1	no_errors	ENST00000311034	ensembl	human	known	74_37	missense	SNP	0.933	A	A	66192048	G	A	66192048	3	1	90	1	0	0	0	0	1	0	0	0	10567	1319	46	2	1713	2	NPAS4	11	66192048	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		66192048	68814468	24	5067											
DERA	51071	genome.wustl.edu	37	chr12	16189290	16189290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgaataggtgccagtaCtctgctctcggacattgaga	10	10	2	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr12:16189290C>T	ENST00000428559.2	+	8	1087	c.875C>T	c.(874-876)aCt>aTt	p.T292I	DERA_ENST00000532964.1_Missense_Mutation_p.T249I|DERA_ENST00000526530.1_Missense_Mutation_p.T204I	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	292					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GGTGCCAGTACTCTGCTCTCG	0.433																																																	0								ENSG00000023697						104	101	102					12																	16189290		1866	4109	5975	DERA	SO:0001583	missense	0			-	HGNC	AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.875C>T	12.37:g.16189290C>T	ENSP00000416583:p.Thr292Ile	Somatic	0	45	0		0.473291439996773	14	57.58	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	Q53HN9|Q6PHW2	Missense_Mutation	SNP							pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC	p.T292I	ENST00000428559.2	37	c.875	CCDS44838.1	12	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725937	0.48833	.	.	ENSG00000023697	ENST00000428559;ENST00000532964;ENST00000526530	.	.	.	5.57	4.67	0.58626	Aldolase-type TIM barrel (1);	0.365666	0.32987	N	0.005405	T	0.45236	0.1332	L	0.39245	1.2	0.29389	N	0.862764	B	0.28470	0.213	B	0.34385	0.181	T	0.52253	-0.8600	9	0.87932	D	0	-6.6333	15.6664	0.77234	0.0:0.7016:0.2984:0.0	.	292	Q9Y315	DEOC_HUMAN	I	292;249;204	.	ENSP00000416583:T292I	T	+	2	0	DERA	16080557	0.354000	0.24912	0.251000	0.24312	0.845000	0.48019	3.167000	0.50793	1.337000	0.45525	0.655000	0.94253	ACT	-	pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC		0.433	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERA	protein_coding	OTTHUMT00000384731.1	C	NM_015954	-		16189290	1	no_errors	ENST00000428559	ensembl	human	known	74_37	missense	SNP	0.979	T	T	16189290	C	T	16189290	3	4	90	1	0	0	0	0	1	0	0	0	4447	565	20	2	905	2	DERA	12	16189290	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09		16189290	117662605	25	5068											
MED21	9412	genome.wustl.edu	37	chr12	27179393	27179418	+	Frame_Shift_Del	DEL	AATGTGGTCCTCCTGCCTCTTTCAAT	AATGTGGTCCTCCTGCCTCTTTCAAT	-													tgccattggagtattgcagcAatgtggtcctcctgcctctt							TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	AATGTGGTCCTCCTGCCTCTTTCAAT	AATGTGGTCCTCCTGCCTCTTTCAAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr12:27179393_27179418delAATGTGGTCCTCCTGCCTCTTTCAAT	ENST00000282892.3	+	2	113_138	c.83_108delAATGTGGTCCTCCTGCCTCTTTCAAT	c.(82-108)caatgtggtcctcctgcctctttcaatfs	p.QCGPPASFN28fs	MED21_ENST00000536503.1_Intron|MED21_ENST00000546323.1_Frame_Shift_Del_p.QCGPPASFN28fs	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	28					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)					GTATTGCAGCAATGTGGTCCTCCTGCCTCTTTCAATAATATTCAGA	0.372																																																	0								ENSG00000152944																																			MED21	SO:0001589	frameshift_variant	0				HGNC	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.83_108delAATGTGGTCCTCCTGCCTCTTTCAAT	12.37:g.27179393_27179418delAATGTGGTCCTCCTGCCTCTTTCAAT	ENSP00000282892:p.Gln28fs	Somatic					0.473291439996773	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R4I3|Q6IB05|Q92811	Frame_Shift_Del	DEL							pfam_Mediator_Med21	p.C29fs	ENST00000282892.3	37	c.83_108	CCDS8711.1	12																																																																																			-	pfam_Mediator_Med21		0.372	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED21	protein_coding	OTTHUMT00000403262.1	AATGTGGTCCTCCTGCCTCTTTCAAT	NM_004264			27179418	1	no_errors	ENST00000282892	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.686:1.000:1.000:0.944:1.000:1.000:0.985:1.000:1.000:0.995:1.000:1.000:0.994:1.000:1.000:0.997:1.000:1.000:1.000	-	-	27179418	AATGTGGTCCTCCTGCCTCTTTCAAT	-	27179393	7	5	90	1	0	1	0	1	0	0	0	0	9441	130	5	0	89	0	MED21	12	27179393	Frame_Shift_Del	DEL	AATGTGGTCCTCCTGCCTCTTTCAAT	TCGA-DX-A7ER-01A-11D-A36J-09	10990103	27179393	106672502	26	5069											
KIF5A	3798	genome.wustl.edu	37	chr12	57962771	57962771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagactggagcagagggagCcgtgctggacgaggcaaaga	17	8	0	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr12:57962771C>T	ENST00000455537.2	+	9	1014	c.740C>T	c.(739-741)gCc>gTc	p.A247V	KIF5A_ENST00000286452.5_Missense_Mutation_p.A158V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	247	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCAGAGGGAGCCGTGCTGGAC	0.567																																																	0								ENSG00000155980						144	112	123					12																	57962771		2203	4300	6503	KIF5A	SO:0001583	missense	0			-	HGNC	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.740C>T	12.37:g.57962771C>T	ENSP00000408979:p.Ala247Val	Somatic	0	43	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A6H8M5|Q4LE26	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A247V	ENST00000455537.2	37	c.740	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014652	0.75161	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.75260	-0.92;-0.92	4.23	4.23	0.50019	Kinesin, motor domain (4);	0.123056	0.53938	D	0.000053	T	0.57446	0.2054	N	0.11927	0.2	0.80722	D	1	B;B	0.28667	0.055;0.219	B;B	0.26693	0.038;0.072	T	0.57487	-0.7803	10	0.32370	T	0.25	.	15.9283	0.79639	0.0:1.0:0.0:0.0	.	158;247	B7Z2M7;Q12840	.;KIF5A_HUMAN	V	247;158	ENSP00000408979:A247V;ENSP00000286452:A158V	ENSP00000286452:A158V	A	+	2	0	KIF5A	56249038	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.444000	0.80532	2.362000	0.80069	0.555000	0.69702	GCC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.567	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	protein_coding	OTTHUMT00000407634.1	C	NM_004984	-		57962771	1	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57962771	C	T	57962771	3	4	90	1	0	0	0	0	1	0	0	0	8307	739	26	2	774	2	KIF5A	12	57962771	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	30783378	57962771	75889124	27	5070											
MMP17	4326	genome.wustl.edu	37	chr12	132329694	132329694	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgtgccccacagatgcagcActcactttgacgcggtggcc	11	15	1	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr12:132329694A>T	ENST00000360564.1	+	7	1102	c.1000A>T	c.(1000-1002)Act>Tct	p.T334S	MMP17_ENST00000535004.1_5'Flank|MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.T250S	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	334					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CAGATGCAGCACTCACTTTGA	0.667																																																	0								ENSG00000198598						110	102	105					12																	132329694		2203	4300	6503	MMP17	SO:0001583	missense	0			-	HGNC	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1000A>T	12.37:g.132329694A>T	ENSP00000353767:p.Thr334Ser	Somatic	0	85	0		0.473291439996773	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q14850	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.T334S	ENST00000360564.1	37	c.1000	CCDS31927.1	12	.	.	.	.	.	.	.	.	.	.	A	8.659	0.900125	0.17686	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.16196	2.36;2.4;2.59	4.12	0.618	0.17624	Hemopexin/matrixin (2);	0.731147	0.13224	N	0.404174	T	0.12646	0.0307	L	0.33485	1.01	0.09310	N	1	B	0.13145	0.007	B	0.16722	0.016	T	0.24870	-1.0148	10	0.49607	T	0.09	.	8.3017	0.32019	0.5929:0.0:0.4071:0.0	.	334	Q9ULZ9	MMP17_HUMAN	S	334;250;175	ENSP00000353767:T334S;ENSP00000441106:T250S;ENSP00000442104:T175S	ENSP00000353767:T334S	T	+	1	0	MMP17	130895647	0.001000	0.12720	0.001000	0.08648	0.319000	0.28217	0.261000	0.18442	-0.115000	0.11915	0.472000	0.43445	ACT	-	superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	protein_coding	OTTHUMT00000397757.1	A	NM_016155	-		132329694	1	no_errors	ENST00000360564	ensembl	human	known	74_37	missense	SNP	0.001	T	T	132329694	A	T	132329694	3	4	90	1	0	0	0	0	1	0	0	0	9658	159	6	5	1026	5	MMP17	12	132329694	Missense_Mutation	SNP	A	TCGA-DX-A7ER-01A-11D-A36J-09	74366923	132329694	1522201	28	5071											
FLT3	2322	genome.wustl.edu	37	chr13	28623854	28623854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaccttatccataagGgttcccctactttaagaaat	5	11	0	1	rs117240821		TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr13:28623854G>T	ENST00000241453.7	-	7	881	c.800C>A	c.(799-801)cCc>cAc	p.P267H	FLT3_ENST00000537084.1_Missense_Mutation_p.P267H|FLT3_ENST00000380982.4_Missense_Mutation_p.P267H	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	267	Ig-like C2-type.				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)	TATCCATAAGGGTTCCCCTAC	0.398			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0								ENSG00000122025						123	115	118					13																	28623854		2203	4300	6503	FLT3	SO:0001583	missense	0			-	HGNC	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.800C>A	13.37:g.28623854G>T	ENSP00000241453:p.Pro267His	Somatic	0	70	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P267H	ENST00000241453.7	37	c.800	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144552	0.77888	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.20200	2.09;2.09;2.09	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.35970	0.0950	L	0.27053	0.805	0.47511	D	0.99944	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.04752	-1.0929	10	0.59425	D	0.04	.	18.4627	0.90745	0.0:0.0:1.0:0.0	.	267;267	P36888-2;P36888	.;FLT3_HUMAN	H	267	ENSP00000241453:P267H;ENSP00000370369:P267H;ENSP00000438139:P267H	ENSP00000241453:P267H	P	-	2	0	FLT3	27521854	1.000000	0.71417	0.878000	0.34440	0.899000	0.52679	6.013000	0.70776	2.873000	0.98535	0.561000	0.74099	CCC	-	pfam_Immunoglobulin,pfscan_Ig-like_dom		0.398	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	G		-		28623854	-1	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	SNP	0.970	T	T	28623854	G	T	28623854	3	4	90	1	0	0	0	0	1	0	0	0	5944	1232	43	3	2253	3	FLT3	13	28623854	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		28623854	86546024	29	5072											
RXFP2	122042	genome.wustl.edu	37	chr13	32356836	32356836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctagaaatcaaattgGttttgttccagagaagacat	8	7	2	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr13:32356836G>T	ENST00000298386.2	+	11	952	c.881G>T	c.(880-882)gGt>gTt	p.G294V	RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATCAAATTGGTTTTGTTCCA	0.388																																																	0								ENSG00000133105						82	80	80					13																	32356836		2203	4300	6503	RXFP2	SO:0001583	missense	0			-	HGNC	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.881G>T	13.37:g.32356836G>T	ENSP00000298386:p.Gly294Val	Somatic	0	75	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	38	40.62	B1ALE9|Q3KU23	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.G294V	ENST00000298386.2	37	c.881	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494376	0.26774	.	.	ENSG00000133105	ENST00000298386	T	0.57273	0.41	5.6	1.68	0.24146	.	0.571237	0.19519	N	0.112325	T	0.36826	0.0981	N	0.17345	0.48	0.80722	D	1	B	0.19583	0.037	B	0.34346	0.18	T	0.07693	-1.0759	10	0.32370	T	0.25	.	7.9229	0.29857	0.6665:0.0:0.3335:0.0	.	294	Q8WXD0	RXFP2_HUMAN	V	294	ENSP00000298386:G294V	ENSP00000298386:G294V	G	+	2	0	RXFP2	31254836	0.961000	0.32948	1.000000	0.80357	0.995000	0.86356	1.005000	0.29834	0.101000	0.17610	-0.290000	0.09829	GGT	-	smart_Leu-rich_rpt_typical-subtyp		0.388	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	protein_coding	OTTHUMT00000044399.1	G	NM_130806	-		32356836	1	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32356836	G	T	32356836	3	4	90	1	0	0	0	0	1	0	0	0	13768	1261	44	3	923	3	RXFP2	13	32356836	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09	3732982	32356836	82813042	30	5073											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36277946	36277946	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctcaccgatgacgatGcgcaggtgcttgaggcgagt	14	12	1	2			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr14:36277946G>T	ENST00000389698.3	-	1	486	c.96C>A	c.(94-96)cgC>cgA	p.R32R	AL162311.1_ENST00000582013.1_RNA|RALGAPA1_ENST00000382366.3_Silent_p.R32R|RALGAPA1_ENST00000258840.6_Silent_p.R32R|RALGAPA1_ENST00000307138.6_Silent_p.R32R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	32					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGATGACGATGCGCAGGTGCT	0.647																																																	0								ENSG00000174373						78	54	62					14																	36277946		2203	4300	6503	RALGAPA1	SO:0001819	synonymous_variant	0			-	HGNC	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.96C>A	14.37:g.36277946G>T		Somatic	0	55	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP							pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.R32	ENST00000389698.3	37	c.96	CCDS32065.1	14																																																																																			-	NULL		0.647	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	protein_coding	OTTHUMT00000409829.1	G	XM_210022	-		36277946	-1	no_errors	ENST00000258840	ensembl	human	known	74_37	silent	SNP	1.000	T	T	36277946	G	T	36277946	2	4	90	1	0	0	0	0	0	0	0	1	13021	1306	46	3		3	RALGAPA1	14	36277946	Silent	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		36277946	71071594	31	5074											
CASC5	57082	genome.wustl.edu	37	chr15	40913679	40913679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacttgtaatcaggatgCcagaatattagccatgaccc	8	10	1	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr15:40913679C>T	ENST00000346991.5	+	11	1685	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.A406V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	432	Interaction with BUB1 and BUB1B.				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)		AATCAGGATGCCAGAATATTA	0.368																																																	0								ENSG00000137812						101	101	101					15																	40913679		1823	4077	5900	CASC5	SO:0001583	missense	0			-	HGNC	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.1295C>T	15.37:g.40913679C>T	ENSP00000335463:p.Ala432Val	Somatic	0	35	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP							NULL	p.A432V	ENST00000346991.5	37	c.1295	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	C	4.982	0.182426	0.09495	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05580	3.42;3.43	5.17	-1.65	0.08291	.	1.592950	0.03263	N	0.183510	T	0.07818	0.0196	M	0.61703	1.905	0.09310	N	1	B;B;B	0.20052	0.019;0.019;0.041	B;B;B	0.14578	0.011;0.011;0.011	T	0.37911	-0.9685	10	0.40728	T	0.16	.	2.095	0.03666	0.1059:0.4174:0.2249:0.2518	.	406;432;406	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	432;406;406	ENSP00000335463:A432V;ENSP00000382576:A406V	ENSP00000260369:A406V	A	+	2	0	CASC5	38700971	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.696000	0.05104	-0.490000	0.06707	0.460000	0.39030	GCC	-	NULL		0.368	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	protein_coding	OTTHUMT00000390224.2	C	NM_144508	-		40913679	1	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	SNP	0.000	T	T	40913679	C	T	40913679	3	4	90	1	0	0	0	0	1	0	0	0	2665	739	26	2	1333	2	CASC5	15	40913679	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09		40913679	61617713	32	5075											
SNX33	257364	genome.wustl.edu	37	chr15	75942421	75942421	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccctgtgctctcccagtaCgaaggcttccagcatttcct	7	16	1	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr15:75942421C>G	ENST00000308527.5	+	1	2175	c.978C>G	c.(976-978)taC>taG	p.Y326*	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	326	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCTCCCAGTACGAAGGCTTCC	0.592																																																	0								ENSG00000173548						84	88	86					15																	75942421		2197	4294	6491	SNX33	SO:0001587	stop_gained	0			-	HGNC	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.978C>G	15.37:g.75942421C>G	ENSP00000311427:p.Tyr326*	Somatic	0	68	0		0.473291439996773	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	45.95	B1NM17	Nonsense_Mutation	SNP							pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.Y326*	ENST00000308527.5	37	c.978	CCDS10283.1	15	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559099	0.45590	.	.	ENSG00000173548	ENST00000308527	.	.	.	5.68	-11.4	0.00090	.	0.263771	0.38548	N	0.001644	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-23.63	14.0861	0.64957	0.0783:0.6398:0.0:0.2819	.	.	.	.	X	326	.	ENSP00000311427:Y326X	Y	+	3	2	SNX33	73729476	0.001000	0.12720	0.513000	0.27749	0.838000	0.47535	-1.442000	0.02407	-2.234000	0.00715	-1.193000	0.01689	TAC	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox		0.592	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	protein_coding	OTTHUMT00000286471.1	C	NM_153271	-		75942421	1	no_errors	ENST00000308527	ensembl	human	known	74_37	nonsense	SNP	0.267	G	G	75942421	C	G	75942421	4	3	90	1	0	0	0	0	0	1	0	0	14911	547	19	4	980	4	SNX33	15	75942421	Nonsense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	35028742	75942421	26588971	33	5076											
CDK10	8558	genome.wustl.edu	37	chr16	89760638	89760638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccaccagcatcgacatGtggtgaggagatacggttac	12	10	0	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr16:89760638G>T	ENST00000353379.7	+	9	709	c.666G>T	c.(664-666)atG>atT	p.M222I	CDK10_ENST00000505473.1_Missense_Mutation_p.M151I|CDK10_ENST00000331006.8_Missense_Mutation_p.M175I	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCATCGACATGTGGTGAGGAG	0.627																																																	0								ENSG00000185324						92	71	78					16																	89760638		2198	4300	6498	CDK10	SO:0001583	missense	0			-	HGNC	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.666G>T	16.37:g.89760638G>T	ENSP00000338673:p.Met222Ile	Somatic	0	74	0		0.473291439996773	274	0.36	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M222I	ENST00000353379.7	37	c.666	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604197	0.66445	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.62232	0.04;0.04;0.04	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.034048	0.85682	D	0.000000	T	0.46367	0.1389	N	0.10685	0.025	0.80722	D	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.16722	0.016;0.007;0.004	T	0.33111	-0.9881	10	0.37606	T	0.19	-50.0794	18.9133	0.92494	0.0:0.0:1.0:0.0	.	222;151;151	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	I	175;193;151;222	ENSP00000329957:M175I;ENSP00000424415:M151I;ENSP00000338673:M222I	ENSP00000329957:M175I	M	+	3	0	CDK10	88288139	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.349000	0.73013	2.768000	0.95171	0.650000	0.86243	ATG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.627	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	protein_coding	OTTHUMT00000269925.2	G		-		89760638	1	no_errors	ENST00000353379	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89760638	G	T	89760638	3	4	90	1	0	0	0	0	1	0	0	0	3127	1377	48	3	700	3	CDK10	16	89760638	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		89760638	594115	34	5077											
ZZEF1	23140	genome.wustl.edu	37	chr17	4008090	4008090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagagtcagttctacctcTggggtagaacagcagctata	11	8	3	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr17:4008090T>C	ENST00000381638.2	-	8	1534	c.1410A>G	c.(1408-1410)ccA>ccG	p.P470P	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	470							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTCTACCTCTGGGGTAGAAC	0.438																																																	0								ENSG00000074755						70	65	67					17																	4008090		2203	4300	6503	ZZEF1	SO:0001819	synonymous_variant	0			-	HGNC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1410A>G	17.37:g.4008090T>C		Somatic	0	44	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP							pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.P470	ENST00000381638.2	37	c.1410	CCDS11043.1	17																																																																																			-	NULL		0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	protein_coding	OTTHUMT00000207480.1	T	NM_015113	-		4008090	-1	no_errors	ENST00000381638	ensembl	human	known	74_37	silent	SNP	1.000	C	C	4008090	T	C	4008090	2	2	90	1	0	0	0	0	0	0	0	1	18262	1567	55	5		5	ZZEF1	17	4008090	Silent	SNP	T	TCGA-DX-A7ER-01A-11D-A36J-09		4008090	77187120	35	5078											
KIAA0195	9772	genome.wustl.edu	37	chr17	73484164	73484164	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctggttgaaggagacatCatagctttgaggcctggcca	13	9	1	3			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr17:73484164C>T	ENST00000314256.7	+	6	955	c.561C>T	c.(559-561)atC>atT	p.I187I	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.I197I|KIAA0195_ENST00000583795.1_3'UTR	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	187						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGAGACATCATAGCTTTGA	0.557																																																	0								ENSG00000177728						133	105	115					17																	73484164		2203	4300	6503	KIAA0195	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.561C>T	17.37:g.73484164C>T		Somatic	0	84	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	45	45.12	O75536|Q86XF1	Silent	SNP							pfam_ATPase_P-typ_cation-transptr_C	p.I187	ENST00000314256.7	37	c.561	CCDS32732.1	17																																																																																			-	NULL		0.557	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	protein_coding	OTTHUMT00000447303.1	C	NM_014738	-		73484164	1	no_errors	ENST00000314256	ensembl	human	known	74_37	silent	SNP	1.000	T	T	73484164	C	T	73484164	2	4	90	1	0	0	0	0	0	0	0	1	8162	816	29	2		2	KIAA0195	17	73484164	Silent	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	69476074	73484164	7711046	36	5079											
CACNA1A	773	genome.wustl.edu	37	chr19	13410084	13410084	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatacagggcctcccggctgGccagcaagttctgctttcgc	11	14	1	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr19:13410084G>C	ENST00000360228.5	-	19	2362	c.2363C>G	c.(2362-2364)gCc>gGc	p.A788G	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A789G	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	789					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)			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)	CTCCCGGCTGGCCAGCAAGTT	0.597																																																	0								ENSG00000141837						74	81	78					19																	13410084		2073	4202	6275	CACNA1A	SO:0001583	missense	0			-	HGNC	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.2363C>G	19.37:g.13410084G>C	ENSP00000353362:p.Ala788Gly	Somatic	0	73	0		0.473291439996773	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	33	47.62	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.A788G	ENST00000360228.5	37	c.2363	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	9.636	1.137807	0.21123	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96300	-3.97	4.0	4.0	0.46444	.	0.635417	0.11828	U	0.525526	D	0.93838	0.8029	L	0.47190	1.495	0.26200	N	0.979463	B;P;P	0.37864	0.255;0.571;0.61	B;B;B	0.37550	0.038;0.121;0.253	D	0.89669	0.3882	10	0.72032	D	0.01	.	10.4237	0.44365	0.0:0.0:0.8044:0.1956	.	789;792;788	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	G	788;792;789;789	ENSP00000353362:A788G	ENSP00000317661:A789G	A	-	2	0	CACNA1A	13271084	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	7.358000	0.79466	2.073000	0.62155	0.561000	0.74099	GCC	-	NULL		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	G	NM_000068	-		13410084	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	SNP	1.000	C	C	13410084	G	C	13410084	3	2	90	1	0	0	0	0	1	0	0	0	2540	1203	42	4	5375	4	CACNA1A	19	13410084	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		13410084	45718899	37	5080											
RFX1	5989	genome.wustl.edu	37	chr19	14104401	14104401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgcaccggttggctgCgagggtgcgggtacagccgg	21	9	0	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr19:14104401C>T	ENST00000254325.4	-	2	489	c.255G>A	c.(253-255)tcG>tcA	p.S85S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	85					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGTTGGCTGCGAGGGTGCGG	0.647																																																	0								ENSG00000132005						44	37	40					19																	14104401		2203	4300	6503	RFX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.255G>A	19.37:g.14104401C>T		Somatic	0	62	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Silent	SNP							pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S85	ENST00000254325.4	37	c.255	CCDS12301.1	19																																																																																			-	NULL		0.647	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	protein_coding	OTTHUMT00000458510.1	C	NM_002918	-		14104401	-1	no_errors	ENST00000254325	ensembl	human	known	74_37	silent	SNP	0.072	T	T	14104401	C	T	14104401	2	4	90	1	0	0	0	0	0	0	0	1	13270	755	27	1		1	RFX1	19	14104401	Silent	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09	694317	14104401	45024582	38	5081											
GLT25D1	79709	genome.wustl.edu	37	chr19	17679325	17679325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccccacagggctactAcaagcgcacacctgcctaca	6	18	1	0	rs375611652		TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr19:17679325A>G	ENST00000252599.4	+	5	752	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	211					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CAGGGCTACTACAAGCGCACA	0.597																																																	0								ENSG00000130309	A	CYS/TYR	0,4406		0,0,2203	93	76	82		632	4.8	1	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLT25D1	NM_024656.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	211/623	17679325	1,13005	2203	4300	6503	COLGALT1	SO:0001583	missense	0			-	HGNC	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.632A>G	19.37:g.17679325A>G	ENSP00000252599:p.Tyr211Cys	Somatic	0	44	0		0.473291439996773	13	40.91	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	22	50.00	Q8NC64	Missense_Mutation	SNP							pfam_Glyco_trans_25	p.Y211C	ENST00000252599.4	37	c.632	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038684	0.75617	0.0	1.16E-4	ENSG00000130309	ENST00000252599	T	0.24908	1.83	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70417	-0.4877	10	0.87932	D	0	-9.8249	12.1992	0.54315	1.0:0.0:0.0:0.0	.	211	Q8NBJ5	GT251_HUMAN	C	211	ENSP00000252599:Y211C	ENSP00000252599:Y211C	Y	+	2	0	GLT25D1	17540325	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.156000	0.94705	1.788000	0.52465	0.402000	0.26972	TAC	-	NULL		0.597	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT1	protein_coding	OTTHUMT00000464216.1	A	NM_024656	-		17679325	1	no_errors	ENST00000252599	ensembl	human	known	74_37	missense	SNP	1.000	G	G	17679325	A	G	17679325	3	3	90	1	0	0	0	0	1	0	0	0	6468	391	14	5	650	5	GLT25D1	19	17679325	Missense_Mutation	SNP	A	TCGA-DX-A7ER-01A-11D-A36J-09	3574924	17679325	41449658	39	5082											
KCNB1	3745	genome.wustl.edu	37	chr20	48098845	48098845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcagtcgcggagcttgCccagccgcgtgcggggcagg	18	12	0	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr20:48098845C>A	ENST00000371741.4	-	1	339	c.173G>T	c.(172-174)gGc>gTc	p.G58V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	58					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GCGGAGCTTGCCCAGCCGCGT	0.692																																																	0								ENSG00000158445						16	16	16					20																	48098845		2189	4264	6453	KCNB1	SO:0001583	missense	0			-	HGNC	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.173G>T	20.37:g.48098845C>A	ENSP00000360806:p.Gly58Val	Somatic	0	31	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q14193	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.G58V	ENST00000371741.4	37	c.173	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958852	0.92726	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.78816	-1.21	4.86	4.86	0.63082	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	H	0.96142	3.775	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.94474	0.7687	10	0.87932	D	0	.	17.8086	0.88609	0.0:1.0:0.0:0.0	.	58	Q14721	KCNB1_HUMAN	V	58;13	ENSP00000360806:G58V	ENSP00000360806:G58V	G	-	2	0	KCNB1	47532252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.528000	0.85240	0.563000	0.77884	GGC	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.692	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	protein_coding	OTTHUMT00000080374.3	C	NM_004975	-		48098845	-1	no_errors	ENST00000371741	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48098845	C	A	48098845	3	1	90	1	0	0	0	0	1	0	0	0	8014	739	26	3	2411	3	KCNB1	20	48098845	Missense_Mutation	SNP	C	TCGA-DX-A7ER-01A-11D-A36J-09		48098845	14926675	40	5083											
C22orf30	253143	genome.wustl.edu	37	chr22	32108558	32108558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttgggaggttgagacGggcactggagggcctctcct	15	11	1	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chr22:32108558G>A	ENST00000327423.6	-	4	5456	c.5267C>T	c.(5266-5268)cCg>cTg	p.P1756L	PRR14L_ENST00000397493.2_Missense_Mutation_p.P1756L|PRR14L_ENST00000434485.1_Missense_Mutation_p.P1756L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1756										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AGGTTGAGACGGGCACTGGAG	0.552																																																	0								ENSG00000183530						34	36	35					22																	32108558		692	1591	2283	PRR14L	SO:0001583	missense	0			-	HGNC	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5267C>T	22.37:g.32108558G>A	ENSP00000331845:p.Pro1756Leu	Somatic	0	32	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	13	51.85	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP							NULL	p.P1756L	ENST00000327423.6	37	c.5267	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	7.781	0.709431	0.15239	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.07216	3.21;3.23;3.21	5.81	-0.139	0.13460	.	0.724111	0.12900	N	0.429849	T	0.03263	0.0095	N	0.12182	0.205	0.09310	N	1	B;B;B	0.28667	0.219;0.219;0.219	B;B;B	0.20184	0.028;0.028;0.028	T	0.41288	-0.9517	10	0.30078	T	0.28	0.7532	1.7142	0.02898	0.2907:0.1276:0.45:0.1317	.	1756;1756;1756	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	1756	ENSP00000380630:P1756L;ENSP00000331845:P1756L;ENSP00000388314:P1756L	ENSP00000331845:P1756L	P	-	2	0	PRR14L	30438558	0.322000	0.24634	0.016000	0.15963	0.182000	0.23217	0.781000	0.26774	-0.156000	0.11079	-0.182000	0.12963	CCG	-	NULL		0.552	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	protein_coding	OTTHUMT00000074993.2	G	NM_173566	-		32108558	-1	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	SNP	0.001	A	A	32108558	G	A	32108558	3	1	90	1	0	0	0	0	1	0	0	0	2144	1116	39	1	1212	1	C22orf30	22	32108558	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		32108558	19196008	41	5084											
FAM104B	90736	genome.wustl.edu	37	chrX	55170270	55170270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttttatttcaggaccaaagGacataaaccagtttatgaca	7	7	1	1			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chrX:55170270G>T	ENST00000358460.4	-	4	443	c.290C>A	c.(289-291)tCc>tAc	p.S97Y	FAM104B_ENST00000332132.4_Missense_Mutation_p.S98Y|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	97										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AGGACCAAAGGACATAAACCA	0.368																																																	0								ENSG00000182518						142	124	130					X																	55170270		2203	4300	6503	FAM104B	SO:0001583	missense	0			-	HGNC	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.290C>A	X.37:g.55170270G>T	ENSP00000364101:p.Ser97Tyr	Somatic	0	71	0		0.473291439996773	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP							NULL	p.S98Y	ENST00000358460.4	37	c.293	CCDS35305.2	X	.	.	.	.	.	.	.	.	.	.	g	5.046	0.194102	0.09599	.	.	ENSG00000182518	ENST00000358460;ENST00000332132	T;T	0.45668	0.89;0.89	1.22	0.236	0.15471	.	21.583900	0.01591	U	0.021569	T	0.32406	0.0828	N	0.08118	0	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.50231	0.635;0.635	T	0.19614	-1.0300	10	0.72032	D	0.01	.	4.7436	0.13026	0.0:0.3996:0.6004:0.0	.	97;98	Q5XKR9;Q5XKR9-2	F104B_HUMAN;.	Y	97;98	ENSP00000364101:S97Y;ENSP00000333394:S98Y	ENSP00000333394:S98Y	S	-	2	0	FAM104B	55186995	0.007000	0.16637	0.001000	0.08648	0.035000	0.12851	0.341000	0.19909	0.013000	0.14918	0.513000	0.50165	TCC	-	NULL		0.368	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM104B	protein_coding	OTTHUMT00000056851.1	G	NM_138362	-		55170270	-1	no_errors	ENST00000332132	ensembl	human	known	74_37	missense	SNP	0.001	T	T	55170270	G	T	55170270	3	4	90	1	0	0	0	0	1	0	0	0	5388	1174	41	3	61	3	FAM104B	23	55170270	Missense_Mutation	SNP	G	TCGA-DX-A7ER-01A-11D-A36J-09		55170270	100100290	42	5085											
PCDH11Y	83259	genome.wustl.edu	37	chrY	4925493	4925493	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggagttcaaaactacgaacTaattaaggtgcgttttaaaa	8	6	1	0			TCGA-DX-A7ER-01A-11D-A36J-09	TCGA-DX-A7ER-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fe739b3-f74d-4241-ad59-41d70c6e190f	e9334f05-85a9-45d3-b341-aacb77034f08	g.chrY:4925493T>A	ENST00000333703.4	+	4	1109	c.596T>A	c.(595-597)cTa>cAa	p.L199Q	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.L210Q|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.L210Q	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	210	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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACTACGAACTAATTAAGGTG	0.318																																																	0								ENSG00000099715																																			PCDH11Y	SO:0001583	missense	0			-	HGNC	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.596T>A	Y.37:g.4925493T>A	ENSP00000330552:p.Leu199Gln	Somatic	0	107	0		0.473291439996773	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	98	1	98.99	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L210Q	ENST00000333703.4	37	c.629	CCDS14776.1	Y																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.318	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	protein_coding	OTTHUMT00000084979.2	T	NM_032973	-		4925493	1	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4925493	T	A	4925493	3	1	90	1	0	0	0	0	1	0	0	0	11511	1522	53	5	667	5	PCDH11Y	24	4925493	Missense_Mutation	SNP	T	TCGA-DX-A7ER-01A-11D-A36J-09		4925493	54448073	43	5086											
PABPC4	8761	genome.wustl.edu	37	chr1	40030432	40030432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttaggtgtataatatggaGgccttccctgagcctgtaag	13	7	0	1	rs567524034		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:40030432G>A	ENST00000372857.3	-	9	2051	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	PABPC4_ENST00000372856.3_Missense_Mutation_p.P420L|PABPC4_ENST00000372858.3_Missense_Mutation_p.P420L|RP11-69E11.8_ENST00000415255.1_RNA|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.P420L	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	420					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATAATATGGAGGCCTTCCCTG	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		19751	0		0	False		,,,				2504	0																0								ENSG00000090621						129	117	121					1																	40030432		2203	4300	6503	PABPC4	SO:0001583	missense	0			-	HGNC	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1259C>T	1.37:g.40030432G>A	ENSP00000361948:p.Pro420Leu	Somatic	0	42	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.P420L	ENST00000372857.3	37	c.1259	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.140404|4.140404	0.77775|0.77775	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.15952	.|2.44;2.42;2.47;2.38	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.052254	.|0.85682	.|D	.|0.000000	T|T	0.19886|0.19886	0.0478|0.0478	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22541	.|0.071;0.0;0.002	.|B;B;B	.|0.23275	.|0.045;0.008;0.004	T|T	0.04678|0.04678	-1.0934|-1.0934	5|10	.|0.21014	.|T	.|0.42	.|.	20.3591|20.3591	0.98849|0.98849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|420;420;420	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	F|L	322;147|420	.|ENSP00000361953:P420L;ENSP00000361949:P420L;ENSP00000361948:P420L;ENSP00000361947:P420L	.|ENSP00000361947:P420L	L|P	-|-	1|2	0|0	PABPC4|PABPC4	39803019|39803019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.835000|9.835000	0.99442|0.99442	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	CTC|CCT	-	tigrfam_PABP_1234		0.498	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	protein_coding	OTTHUMT00000025220.1	G	NM_001135653	-		40030432	-1	no_errors	ENST00000372858	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40030432	G	A	40030432	3	1	91	1	0	0	0	0	1	0	0	0	11368	1000	35	2	751	2	PABPC4	1	40030432	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		40030432	209220189	1	5087											
TAL1	6886	genome.wustl.edu	37	chr1	47685823	47685823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgttggtgaagatacGccgcacaactttggtgtggg	15	9	0	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:47685823G>T	ENST00000294339.3	-	4	1141	c.565C>A	c.(565-567)Cgt>Agt	p.R189S	TAL1_ENST00000371883.3_Missense_Mutation_p.R191S|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.R189S	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	189	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|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)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTGAAGATACGCCGCACAACT	0.557			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic																																			Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0								ENSG00000162367						36	35	35					1																	47685823		2203	4300	6503	TAL1	SO:0001583	missense	0			-	HGNC	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"Basic helix-loop-helix proteins"	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.565C>A	1.37:g.47685823G>T	ENSP00000294339:p.Arg189Ser	Somatic	0	54	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DQ24	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R191S	ENST00000294339.3	37	c.571	CCDS547.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.484753	0.96323	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.99129	-5.46;-5.46;-5.46	5.53	5.53	0.82687	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98931	1.0787	10	0.87932	D	0	.	19.4674	0.94948	0.0:0.0:1.0:0.0	.	189	P17542	TAL1_HUMAN	S	189;191;189	ENSP00000360951:R189S;ENSP00000360950:R191S;ENSP00000294339:R189S	ENSP00000294339:R189S	R	-	1	0	TAL1	47458410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.607000	0.88179	0.579000	0.79373	CGT	-	pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom		0.557	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TAL1	protein_coding	OTTHUMT00000021640.1	G	NM_003189	-		47685823	-1	no_errors	ENST00000371883	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47685823	G	T	47685823	3	4	91	1	0	0	0	0	1	0	0	0	15548	1087	38	3	434	3	TAL1	1	47685823	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	7655391	47685823	201564798	2	5088											
ST6GALNAC5	81849	genome.wustl.edu	37	chr1	77528785	77528785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctttatcacagagaaacGagtctttaagaactgggcac	9	10	2	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:77528785G>A	ENST00000477717.1	+	5	1140	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	302					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACAGAGAAACGAGTCTTTAAG	0.413																																																	0								ENSG00000117069						141	131	134					1																	77528785		2203	4300	6503	ST6GALNAC5	SO:0001583	missense	0			-	HGNC		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.905G>A	1.37:g.77528785G>A	ENSP00000417583:p.Arg302Gln	Somatic	0	89	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	57	24.00	B1AK82	Missense_Mutation	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R302Q	ENST00000477717.1	37	c.905	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399730	0.83120	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31247	1.5	5.93	5.93	0.95920	.	0.174129	0.50627	D	0.000114	T	0.18923	0.0454	L	0.49350	1.555	0.48762	D	0.999704	P	0.39696	0.683	B	0.36885	0.235	T	0.03394	-1.1041	10	0.17369	T	0.5	-38.9358	20.3422	0.98769	0.0:0.0:1.0:0.0	.	302	Q9BVH7	SIA7E_HUMAN	Q	302;212	ENSP00000417583:R302Q	ENSP00000406658:R212Q	R	+	2	0	ST6GALNAC5	77301373	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.463000	0.60128	2.810000	0.96702	0.655000	0.94253	CGA	-	pirsf_Sialyl_trans		0.413	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	protein_coding	OTTHUMT00000026692.2	G	NM_030965	-		77528785	1	no_errors	ENST00000477717	ensembl	human	known	74_37	missense	SNP	0.983	A	A	77528785	G	A	77528785	3	1	91	1	0	0	0	0	1	0	0	0	15234	1058	37	1	923	1	ST6GALNAC5	1	77528785	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	29842962	77528785	171721836	3	5089											
EXTL2	2135	genome.wustl.edu	37	chr1	101342367	101342367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgccaaactgagaaagCaaaaacaaggtctggggtgc	11	9	1	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:101342367C>T	ENST00000370114.3	-	4	1923	c.487G>A	c.(487-489)Gct>Act	p.A163T	EXTL2_ENST00000370113.3_Missense_Mutation_p.A163T|EXTL2_ENST00000535414.1_Missense_Mutation_p.A150T	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	163					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ACTGAGAAAGCAAAAACAAGG	0.368																																																	0								ENSG00000162694						150	137	141					1																	101342367		2203	4299	6502	EXTL2	SO:0001583	missense	0			-	HGNC	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"Exostosin glycosyltransferase family"	3516	protein-coding gene	gene with protein product	"alpha-1,4-N-acteylhexosaminyltransferase"	602411	"exostoses (multiple)-like 2"			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.487G>A	1.37:g.101342367C>T	ENSP00000359132:p.Ala163Thr	Somatic	0	56	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B2R795|D3DT60	Missense_Mutation	SNP							pfam_HexNAc_Trfase_a	p.A163T	ENST00000370114.3	37	c.487	CCDS775.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000837	0.93227	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.67	5.67	0.87782	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.94	D	0.96454	0.9336	10	0.87932	D	0	-21.6885	19.7556	0.96287	0.0:1.0:0.0:0.0	.	162;163	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	T	163;163;150;171	ENSP00000359132:A163T;ENSP00000359131:A163T;ENSP00000444385:A150T;ENSP00000403363:A171T	ENSP00000359131:A163T	A	-	1	0	EXTL2	101114955	1.000000	0.71417	0.991000	0.47740	0.755000	0.42902	7.219000	0.78000	2.660000	0.90430	0.650000	0.86243	GCT	-	pfam_HexNAc_Trfase_a		0.368	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL2	protein_coding	OTTHUMT00000032705.1	C	NM_001439	-		101342367	-1	no_errors	ENST00000370114	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101342367	C	T	101342367	3	4	91	1	0	0	0	0	1	0	0	0	5328	710	25	2	513	2	EXTL2	1	101342367	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	23813582	101342367	147908254	4	5090											
PSRC1	84722	genome.wustl.edu	37	chr1	109823657	109823657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggacggatctgatggGggtgggtgggcctggtggag	23	6	1	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:109823657G>A	ENST00000438534.2	-	5	874	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	PSRC1_ENST00000369907.3_Missense_Mutation_p.P216S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P216S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P246S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P216S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P216S|PSRC1_ENST00000369904.3_Intron	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	246	4 X 4 AA repeats of P-X-X-P.|Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GATCTGATGGGGGTGGGTGGG	0.607																																																	0								ENSG00000134222						35	42	40					1																	109823657		2203	4300	6503	PSRC1	SO:0001583	missense	0			-	HGNC		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.736C>T	1.37:g.109823657G>A	ENSP00000413591:p.Pro246Ser	Somatic	0	54	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP							NULL	p.P246S	ENST00000438534.2	37	c.736		1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897578	0.33535	.	.	ENSG00000134222	ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031	T;T;T;T;T	0.49720	0.86;0.86;0.77;0.86;0.86	6.17	0.554	0.17241	.	0.411149	0.23876	N	0.043699	T	0.13030	0.0316	L	0.32530	0.975	0.09310	N	1	B;B;B	0.15141	0.006;0.001;0.012	B;B;B	0.15052	0.012;0.007;0.008	T	0.14868	-1.0457	10	0.62326	D	0.03	0.0495	2.2425	0.04023	0.1494:0.1284:0.4582:0.264	.	246;216;216	Q6PGN9;Q6PGN9-2;A8K0M8	PSRC1_HUMAN;.;.	S	216;216;246;216;216;216	ENSP00000386323:P216S;ENSP00000358923:P216S;ENSP00000413591:P246S;ENSP00000358925:P216S;ENSP00000358919:P216S	ENSP00000358919:P216S	P	-	1	0	PSRC1	109625180	0.010000	0.17322	0.001000	0.08648	0.006000	0.05464	0.083000	0.14871	0.481000	0.27557	0.655000	0.94253	CCC	-	NULL		0.607	PSRC1-202	KNOWN	basic	protein_coding	PSRC1	protein_coding	OTTHUMT00000335567.3	G	NM_032636	-		109823657	-1	no_errors	ENST00000409138	ensembl	human	known	74_37	missense	SNP	0.000	A	A	109823657	G	A	109823657	3	1	91	1	0	0	0	0	1	0	0	0	12724	1232	43	2	399	2	PSRC1	1	109823657	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	8481290	109823657	139426964	5	5091											
C1orf161	126868	genome.wustl.edu	37	chr1	116675980	116675980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaacccccagatcggcccGccctgatggttgccccggcc	11	18	0	3	rs540660033		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr1:116675980G>A	ENST00000369500.3	+	7	1348	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	361										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGATCGGCCCGCCCTGATGGT	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		16916	0		0	False		,,,				2504	0																0								ENSG00000173212						39	40	40					1																	116675980		2203	4300	6503	MAB21L3	SO:0001819	synonymous_variant	0			-	HGNC	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.1083G>A	1.37:g.116675980G>A		Somatic	0	84	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	94	11.32	Q5TDL7	Silent	SNP							pfam_Mab-21_dom	p.P361	ENST00000369500.3	37	c.1083	CCDS886.1	1																																																																																			-	NULL		0.562	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L3	protein_coding	OTTHUMT00000033486.1	G	NM_152367	-		116675980	1	no_errors	ENST00000369500	ensembl	human	known	74_37	silent	SNP	0.628	A	A	116675980	G	A	116675980	2	1	91	1	0	0	0	0	0	0	0	1	2011	1074	38	1		1	C1orf161	1	116675980	Silent	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	6852323	116675980	132574641	6	5092											
VIT	5212	genome.wustl.edu	37	chr2	36986282	36986282	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaattaacatcttaaccGgtcaagctccactggctctg	8	11	3	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:36986282G>T	ENST00000389975.3	+	6	789				VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.G194C|VIT_ENST00000401530.1_Intron|VIT_ENST00000379241.3_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CATCTTAACCGGTCAAGCTCC	0.463																																																	0								ENSG00000205221																																			VIT	SO:0001627	intron_variant	0			-	HGNC	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+93G>T	2.37:g.36986282G>T		Somatic	0	43	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP							pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.G194C	ENST00000389975.3	37	c.580	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	2.597	-0.293759	0.05568	.	.	ENSG00000205221	ENST00000457137	D	0.92199	-2.99	4.45	-4.09	0.03951	.	.	.	.	.	D	0.89887	0.6845	.	.	.	0.09310	N	1	P	0.48407	0.91	P	0.48454	0.578	T	0.83355	-0.0001	7	.	.	.	.	11.6163	0.51092	0.7431:0.0:0.2569:0.0	.	194	Q6UXI7-3	.	C	194	ENSP00000393561:G194C	.	G	+	1	0	VIT	36839786	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-2.145000	0.01295	-0.730000	0.04869	-0.226000	0.12346	GGT	-	NULL		0.463	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	protein_coding		G		-		36986282	1	no_errors	ENST00000457137	ensembl	human	known	74_37	missense	SNP	0.000	T	T	36986282	G	T	36986282	1	4	91	0	1	0	0	0	0	0	0	0	17178	1116	39	3		3	VIT	2	36986282	Intron	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		36986282	206213091	7	5093											
BMP10	27302	genome.wustl.edu	37	chr2	69093564	69093564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttccggtctactccatcGtatatcatacgatccctttg	5	12	2	0	rs375928014		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:69093564G>A	ENST00000295379.1	-	2	632	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	158					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						CTACTCCATCGTATATCATAC	0.453																																																	0								ENSG00000163217	G		0,4406		0,0,2203	79	67	71		474	-0.9	1	2		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP10	NM_014482.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		158/425	69093564	1,13005	2203	4300	6503	BMP10	SO:0001819	synonymous_variant	0			-	HGNC	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.474C>T	2.37:g.69093564G>A		Somatic	0	52	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	Q53R17|Q6NTE0	Silent	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.Y158	ENST00000295379.1	37	c.474	CCDS1890.1	2																																																																																			-	pfam_TGF-b_N		0.453	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	protein_coding	OTTHUMT00000251768.1	G	NM_014482	-		69093564	-1	no_errors	ENST00000295379	ensembl	human	known	74_37	silent	SNP	0.820	A	A	69093564	G	A	69093564	2	1	91	1	0	0	0	0	0	0	0	1	1457	1140	40	1		1	BMP10	2	69093564	Silent	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	32107282	69093564	174105809	8	5094											
DYNC1I2	1781	genome.wustl.edu	37	chr2	172602373	172602373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcgtgtgagatggacccAttctggcagagagattgctg	13	7	1	3			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:172602373A>G	ENST00000397119.3	+	17	1906	c.1739A>G	c.(1738-1740)cAt>cGt	p.H580R	DYNC1I2_ENST00000409453.1_Missense_Mutation_p.H580R|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.H574R|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.H554R|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.H572R|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.H572R|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.H580R|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.H580R|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.H574R|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.H554R|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.H554R	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	580					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGATGGACCCATTCTGGCAGA	0.433																																																	0								ENSG00000077380						205	202	203					2																	172602373		1942	4134	6076	DYNC1I2	SO:0001583	missense	0			-	HGNC	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1739A>G	2.37:g.172602373A>G	ENSP00000380308:p.His580Arg	Somatic	0	85	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP							pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.H580R	ENST00000397119.3	37	c.1739	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012147	0.35511	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.75367	-0.79;-0.93;-0.8;-0.72;-0.56;-0.56;-0.79;-0.8;-0.72;-0.58;-0.56	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.088351	0.85682	D	0.000000	T	0.60508	0.2274	N	0.17594	0.5	0.80722	D	1	B;B;B;B;B	0.17268	0.0;0.021;0.007;0.007;0.021	B;B;B;B;B	0.22152	0.001;0.027;0.038;0.038;0.017	T	0.56263	-0.8008	10	0.16420	T	0.52	-3.8319	16.0448	0.80714	1.0:0.0:0.0:0.0	.	303;572;554;554;580	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	R	554;580;574;580;572;554;554;574;580;580;572	ENSP00000339430:H554R;ENSP00000433791:H580R;ENSP00000263811:H574R;ENSP00000380308:H580R;ENSP00000386522:H572R;ENSP00000423339:H554R;ENSP00000386397:H554R;ENSP00000386591:H574R;ENSP00000386415:H580R;ENSP00000386886:H580R;ENSP00000350692:H572R	ENSP00000263811:H574R	H	+	2	0	DYNC1I2	172310619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.221000	0.95188	2.206000	0.71126	0.482000	0.46254	CAT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.433	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	protein_coding	OTTHUMT00000333683.2	A	NM_001378	-		172602373	1	no_errors	ENST00000397119	ensembl	human	known	74_37	missense	SNP	1.000	G	G	172602373	A	G	172602373	3	3	91	1	0	0	0	0	1	0	0	0	4845	217	8	5	1801	5	DYNC1I2	2	172602373	Missense_Mutation	SNP	A	TCGA-DX-A7ES-01A-31D-A38Z-09	103508809	172602373	70597000	9	5095											
DNAH7	56171	genome.wustl.edu	37	chr2	196771666	196771666	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggatttgttgagcaaccacaGagagtacttccaaatcaatt	8	8	1	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:196771666G>T	ENST00000312428.6	-	26	4272	c.4172C>A	c.(4171-4173)tCt>tAt	p.S1391Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1391	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCAACCACAGAGAGTACTTC	0.358																																																	0								ENSG00000118997						94	86	88					2																	196771666		1876	4102	5978	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4172C>A	2.37:g.196771666G>T	ENSP00000311273:p.Ser1391Tyr	Somatic	0	30	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.S1391Y	ENST00000312428.6	37	c.4172	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902999	0.72754	.	.	ENSG00000118997	ENST00000312428	T	0.45276	0.9	5.07	5.07	0.68467	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88958	0.3391	10	0.87932	D	0	.	18.2423	0.89971	0.0:0.0:1.0:0.0	.	1391	Q8WXX0	DYH7_HUMAN	Y	1391	ENSP00000311273:S1391Y	ENSP00000311273:S1391Y	S	-	2	0	DNAH7	196479911	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.711000	0.84669	2.634000	0.89283	0.557000	0.71058	TCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	G	NM_018897	-		196771666	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196771666	G	T	196771666	3	4	91	1	0	0	0	0	1	0	0	0	4608	942	33	3	8062	3	DNAH7	2	196771666	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	24169293	196771666	46427707	10	5096											
PSMD1	5707	genome.wustl.edu	37	chr2	231937071	231937071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaactgttggcacccctAttgcttctgtgcctggatcc	9	13	1	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr2:231937071A>G	ENST00000308696.6	+	7	985	c.823A>G	c.(823-825)Att>Gtt	p.I275V	PSMD1_ENST00000373635.4_Missense_Mutation_p.I275V|PSMD1_ENST00000409643.1_Missense_Mutation_p.I275V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	275					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGGCACCCCTATTGCTTCTGT	0.408																																																	0								ENSG00000173692						162	165	164					2																	231937071		2203	4300	6503	PSMD1	SO:0001583	missense	0			-	HGNC	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.823A>G	2.37:g.231937071A>G	ENSP00000309474:p.Ile275Val	Somatic	0	104	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	70	14.63	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP							pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.I275V	ENST00000308696.6	37	c.823	CCDS2482.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.41|14.41	2.526903|2.526903	0.44969|0.44969	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643|ENST00000444007	.|.	.|.	.|.	5.98|5.98	3.55|3.55	0.40652|0.40652	Armadillo-type fold (1);|.	0.043220|.	0.85682|.	D|.	0.000000|.	T|T	0.67297|0.67297	0.2878|0.2878	L|L	0.58925|0.58925	1.835|1.835	0.58432|0.58432	D|D	0.999994|0.999994	B;B|.	0.30973|.	0.027;0.302|.	B;B|.	0.22386|.	0.021;0.039|.	T|T	0.63134|0.63134	-0.6705|-0.6705	9|5	0.23302|.	T|.	0.38|.	-7.3897|-7.3897	13.0469|13.0469	0.58931|0.58931	0.7462:0.2538:0.0:0.0|0.7462:0.2538:0.0:0.0	.|.	275;275|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	V|C	275|126	.|.	ENSP00000309474:I275V|.	I|Y	+|+	1|2	0|0	PSMD1|PSMD1	231645315|231645315	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	5.142000|5.142000	0.64820|0.64820	0.479000|0.479000	0.27511|0.27511	0.528000|0.528000	0.53228|0.53228	ATT|TAT	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2		0.408	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	protein_coding	OTTHUMT00000256958.2	A		-		231937071	1	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	SNP	0.996	G	G	231937071	A	G	231937071	3	3	91	1	0	0	0	0	1	0	0	0	12697	449	16	5	849	5	PSMD1	2	231937071	Missense_Mutation	SNP	A	TCGA-DX-A7ES-01A-31D-A38Z-09	35165405	231937071	11262302	11	5097											
SATB1	6304	genome.wustl.edu	37	chr3	18390964	18390964	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtacaggcccacgtcttGtatgaaactctggaggattc	12	9	2	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr3:18390964G>A	ENST00000338745.6	-	11	3724	c.1990C>T	c.(1990-1992)Caa>Taa	p.Q664*	SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q696*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q664*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	664					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCACGTCTTGTATGAAACTC	0.532																																																	0								ENSG00000182568						108	109	108					3																	18390964		2203	4300	6503	SATB1	SO:0001587	stop_gained	0			-	HGNC		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1990C>T	3.37:g.18390964G>A	ENSP00000341024:p.Gln664*	Somatic	0	82	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.39	B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.Q696*	ENST00000338745.6	37	c.2086	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.662395	0.97743	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	5.1	4.23	0.50019	.	0.168155	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-15.4861	13.4057	0.60911	0.0762:0.0:0.9238:0.0	.	.	.	.	X	664;664;696	.	ENSP00000341024:Q664X	Q	-	1	0	SATB1	18365968	1.000000	0.71417	0.906000	0.35671	0.901000	0.52897	7.713000	0.84693	1.140000	0.42260	0.563000	0.77884	CAA	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.532	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	G	NM_001131010	-		18390964	-1	no_errors	ENST00000417717	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	18390964	G	A	18390964	4	1	91	1	0	0	0	0	0	1	0	0	13861	1386	48	2	305	2	SATB1	3	18390964	Nonsense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		18390964	179631466	12	5098											
SEC22C	9117	genome.wustl.edu	37	chr3	42602771	42602771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagttaaaatgccacttcaCtttctgaatgatgctgtctg	7	8	3	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr3:42602771C>A	ENST00000264454.3	-	4	507	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L	SEC22C_ENST00000423701.2_Missense_Mutation_p.V122L|SEC22C_ENST00000536332.1_Missense_Mutation_p.V52L|SEC22C_ENST00000273156.7_Missense_Mutation_p.V122L|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Missense_Mutation_p.V122L			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	122					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCCACTTCACTTTCTGAATG	0.393																																																	0								ENSG00000093183						77	76	76					3																	42602771		2203	4300	6503	SEC22C	SO:0001583	missense	0			-	HGNC	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.364G>T	3.37:g.42602771C>A	ENSP00000264454:p.Val122Leu	Somatic	0	41	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP							superfamily_Longin-like_dom,pfscan_Longin_dom	p.V122L	ENST00000264454.3	37	c.364	CCDS2700.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.842|9.842	1.191293|1.191293	0.21954|0.21954	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000451653|ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332;ENST00000264454;ENST00000456515;ENST00000450981	.|T;T;T;T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.59|5.59	2.37|2.37	0.29283|0.29283	.|Longin (1);Longin-like (1);	.|0.471757	.|0.23293	.|N	.|0.049779	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.12569|0.12569	0.235|0.235	0.31697|0.31697	N|N	0.641137|0.641137	.|B;B;B;B	.|0.10296	.|0.0;0.002;0.0;0.003	.|B;B;B;B	.|0.08055	.|0.002;0.002;0.001;0.003	T|T	0.20571|0.20571	-1.0271|-1.0271	5|10	.|0.20046	.|T	.|0.44	-9.5655|-9.5655	7.8433|7.8433	0.29410|0.29410	0.0:0.7213:0.0:0.2787|0.0:0.7213:0.0:0.2787	.|.	.|52;122;122;122	.|F5H0H7;Q9BRL7-3;Q9BRL7;Q9BRL7-2	.|.;.;SC22C_HUMAN;.	I|L	43|122;122;122;52;122;122;122	.|ENSP00000414576:V122L;ENSP00000273156:V122L;ENSP00000407564:V122L;ENSP00000439845:V52L;ENSP00000264454:V122L;ENSP00000391170:V122L;ENSP00000397170:V122L	.|ENSP00000264454:V122L	S|V	-|-	2|1	0|0	SEC22C|SEC22C	42577775|42577775	0.993000|0.993000	0.37304|0.37304	0.997000|0.997000	0.53966|0.53966	0.937000|0.937000	0.57800|0.57800	1.378000|1.378000	0.34328|0.34328	0.565000|0.565000	0.29255|0.29255	-0.290000|-0.290000	0.09829|0.09829	AGT|GTG	-	superfamily_Longin-like_dom		0.393	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC22C	protein_coding	OTTHUMT00000254734.1	C	NM_004206	-		42602771	-1	no_errors	ENST00000264454	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42602771	C	A	42602771	3	1	91	1	0	0	0	0	1	0	0	0	13998	565	20	3	609	3	SEC22C	3	42602771	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	24211807	42602771	155419659	13	5099											
EIF4A2	1974	genome.wustl.edu	37	chr3	186504939	186504939	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagttggatacactttgTgacttgtacgagacactgac	11	7	0	3			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr3:186504939T>G	ENST00000323963.5	+	8	859	c.795T>G	c.(793-795)tgT>tgG	p.C265W	SNORA63_ENST00000363548.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.C170W|SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.C266W|SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363450.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	265	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATACACTTTGTGACTTGTACG	0.408			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0								ENSG00000156976						114	116	115					3																	186504939		2203	4300	6503	EIF4A2	SO:0001583	missense	0			-	HGNC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.795T>G	3.37:g.186504939T>G	ENSP00000326381:p.Cys265Trp	Somatic	0	95	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	65	15.58	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.C266W	ENST00000323963.5	37	c.798	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512103	0.64522	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04654	3.58;3.58;3.58	5.12	5.12	0.69794	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.982;0.983;0.961	T	0.00120	-1.2030	10	0.87932	D	0	-22.7477	13.1874	0.59688	0.0:0.0:0.0:1.0	.	121;170;266;265	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	W	265;266;170	ENSP00000326381:C265W;ENSP00000398370:C266W;ENSP00000348925:C170W	ENSP00000326381:C265W	C	+	3	2	EIF4A2	187987633	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.720000	0.54933	2.272000	0.75746	0.460000	0.39030	TGT	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.408	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	protein_coding	OTTHUMT00000344609.1	T	NM_001967	-		186504939	1	no_errors	ENST00000440191	ensembl	human	known	74_37	missense	SNP	1.000	G	G	186504939	T	G	186504939	3	3	91	1	0	0	0	0	1	0	0	0	5027	1702	59	5	825	5	EIF4A2	3	186504939	Missense_Mutation	SNP	T	TCGA-DX-A7ES-01A-31D-A38Z-09	143902168	186504939	11517491	14	5100											
KCNH2	3757	genome.wustl.edu	37	chr7	150647132	150647132	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtttaggtgaattaaaGgagcccagtgaccctgcagg	13	8	0	3			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr7:150647132G>A	ENST00000262186.5	-	9	2800				KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000430723.3_Missense_Mutation_p.P841L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						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)	GTGAATTAAAGGAGCCCAGTG	0.602																																					GBM(137;110 1844 13671 20123 45161)												0								ENSG00000055118						28	39	35					7																	150647132		1291	2273	3564	KCNH2	SO:0001627	intron_variant	0			-	HGNC	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.2398+123C>T	7.37:g.150647132G>A		Somatic	0	75	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.P841L	ENST00000262186.5	37	c.2522	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931912	0.34096	.	.	ENSG00000055118	ENST00000430723	D	0.99259	-5.64	2.85	0.967	0.19674	.	.	.	.	.	D	0.95424	0.8514	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	D	0.92297	0.5846	9	0.62326	D	0.03	.	4.6046	0.12371	0.3281:0.0:0.6719:0.0	.	841;501	G5E9I0;Q708S9	.;.	L	841	ENSP00000387657:P841L	ENSP00000387657:P841L	P	-	2	0	KCNH2	150278065	0.757000	0.28394	0.007000	0.13788	0.375000	0.29983	0.355000	0.20163	0.244000	0.21351	0.462000	0.41574	CCT	-	smart_cNMP-bd_dom		0.602	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	protein_coding	OTTHUMT00000350741.2	G	NM_000238	-		150647132	-1	no_errors	ENST00000430723	ensembl	human	known	74_37	missense	SNP	0.080	A	A	150647132	G	A	150647132	1	1	91	0	1	0	0	0	0	0	0	0	8034	1000	35	2		2	KCNH2	7	150647132	Intron	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		150647132	8491531	15	5101											
PTPN3	5774	genome.wustl.edu	37	chr9	112172683	112172683	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagctttgtgccggattgttCtcggataaactccttcatca	8	10	3	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr9:112172683C>T	ENST00000374541.2	-	15	1430	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	PTPN3_ENST00000412145.1_Silent_p.E311E|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000262539.3_Silent_p.E288E|PTPN3_ENST00000446349.1_Silent_p.E266E	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	442					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCGGATTGTTCTCGGATAAAC	0.483																																																	0								ENSG00000070159						81	88	85					9																	112172683		2202	4300	6502	PTPN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1326G>A	9.37:g.112172683C>T		Somatic	0	51	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	75	32	70.09	A0AUW9|E7EN99|E9PGU7	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E442	ENST00000374541.2	37	c.1326	CCDS6776.1	9																																																																																			-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.483	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	protein_coding	OTTHUMT00000053598.4	C		-		112172683	-1	no_errors	ENST00000374541	ensembl	human	known	74_37	silent	SNP	1.000	T	T	112172683	C	T	112172683	2	4	91	1	0	0	0	0	0	0	0	1	12797	912	32	2		2	PTPN3	9	112172683	Silent	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09		112172683	29040748	16	5102											
CCAR1	55749	genome.wustl.edu	37	chr10	70531091	70531091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaaaaaagcaaaaaagaTgagagaaaagataaaaaaga	8	1	0	5			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr10:70531091T>C	ENST00000265872.6	+	18	2546	c.2427T>C	c.(2425-2427)gaT>gaC	p.D809D	CCAR1_ENST00000535016.1_Silent_p.D794D|CCAR1_ENST00000543719.1_Silent_p.D794D	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	809	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gcaaaaaagatgagagaaaag	0.318																																																	0								ENSG00000060339						52	53	53					10																	70531091		2202	4298	6500	CCAR1	SO:0001819	synonymous_variant	0			-	HGNC	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2427T>C	10.37:g.70531091T>C		Somatic	0	77	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.75	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP							pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.D809	ENST00000265872.6	37	c.2427	CCDS7282.1	10																																																																																			-	NULL		0.318	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	protein_coding	OTTHUMT00000048356.2	T	NM_018237	-		70531091	1	no_errors	ENST00000265872	ensembl	human	known	74_37	silent	SNP	0.932	C	C	70531091	T	C	70531091	2	2	91	1	0	0	0	0	0	0	0	1	2732	1461	51	5		5	CCAR1	10	70531091	Silent	SNP	T	TCGA-DX-A7ES-01A-31D-A38Z-09		70531091	65003656	17	5103											
INCENP	3619	genome.wustl.edu	37	chr11	61913137	61913137	+	Frame_Shift_Del	DEL	A	A	-													tggcagaggagaaggccaagAaaaaggcggcggccaagaag							TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr11:61913137delA	ENST00000394818.3	+	14	2075	c.1873delA	c.(1873-1875)aaafs	p.K626fs	INCENP_ENST00000278849.4_Frame_Shift_Del_p.K622fs	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	626					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGGCCAAGAAAAAGGCGGC	0.617																																																	0								ENSG00000149503						69	49	56					11																	61913137		2192	4293	6485	INCENP	SO:0001589	frameshift_variant	0				HGNC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1873delA	11.37:g.61913137delA	ENSP00000378295:p.Lys626fs	Somatic	0	41	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A8MQD2|Q5Y192	Frame_Shift_Del	DEL							pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.K626fs	ENST00000394818.3	37	c.1873	CCDS44624.1	11																																																																																			-	NULL		0.617	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	protein_coding	OTTHUMT00000394723.2	A	NM_020238			61913137	1	no_errors	ENST00000394818	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	61913137	A	-	61913137	7	5	91	1	0	1	0	1	0	0	0	0	7735	247	9	0	1923	0	INCENP	11	61913137	Frame_Shift_Del	DEL	A	TCGA-DX-A7ES-01A-31D-A38Z-09		61913137	73093379	18	5104											
KDM2A	22992	genome.wustl.edu	37	chr11	67013488	67013488	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactcagtcacatgttccctCtgtggagaggtggatcagaa	11	10	4	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr11:67013488C>T	ENST00000529006.2	+	15	2312	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	KDM2A_ENST00000308783.5_Silent_p.L80L|KDM2A_ENST00000530342.1_Silent_p.L183L|KDM2A_ENST00000398645.2_Silent_p.L622L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	622					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CATGTTCCCTCTGTGGAGAGG	0.443																																																	0								ENSG00000173120						117	115	115					11																	67013488		1952	4147	6099	KDM2A	SO:0001819	synonymous_variant	0			-	HGNC	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1866C>T	11.37:g.67013488C>T		Somatic	0	48	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP							pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L622	ENST00000529006.2	37	c.1866	CCDS44657.1	11																																																																																			-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.443	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	protein_coding	OTTHUMT00000393140.2	C	NM_012308	-		67013488	1	no_errors	ENST00000529006	ensembl	human	known	74_37	silent	SNP	0.997	T	T	67013488	C	T	67013488	2	4	91	1	0	0	0	0	0	0	0	1	8126	900	32	2		2	KDM2A	11	67013488	Silent	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	5100351	67013488	67993028	19	5105											
APOA5	116519	genome.wustl.edu	37	chr11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggaaagcctgaagtcGctggcgcacctcctcggaga	14	13	0	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr11:116661095G>A	ENST00000227665.4	-	3	884	c.850C>T	c.(850-852)Cga>Tga	p.R284*	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Nonsense_Mutation_p.R284*			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	284					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662																																																	0								ENSG00000110243						66	72	70					11																	116661095		2201	4296	6497	APOA5	SO:0001587	stop_gained	0			-	HGNC	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.850C>T	11.37:g.116661095G>A	ENSP00000227665:p.Arg284*	Somatic	0	40	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Nonsense_Mutation	SNP							pfam_ApoA1_A4_E	p.R284*	ENST00000227665.4	37	c.850	CCDS8376.2	11	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036702	0.54896	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	.	.	.	4.75	-2.01	0.07410	.	0.000000	0.40908	D	0.000997	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8156	15.491	0.75605	0.0:0.0:0.2763:0.7237	.	.	.	.	X	284	.	ENSP00000227665:R284X	R	-	1	2	APOA5	116166305	0.331000	0.24713	0.995000	0.50966	0.418000	0.31294	0.455000	0.21843	-0.187000	0.10516	-1.194000	0.01681	CGA	-	pfam_ApoA1_A4_E		0.662	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	protein_coding	OTTHUMT00000106285.2	G		-		116661095	-1	no_errors	ENST00000227665	ensembl	human	known	74_37	nonsense	SNP	0.960	A	A	116661095	G	A	116661095	4	1	91	1	0	0	0	0	0	1	0	0	784	1095	38	1	254	1	APOA5	11	116661095	Nonsense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	49647607	116661095	18345421	20	5106											
KDM5A	5927	genome.wustl.edu	37	chr12	495084	495084	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaagttcattcaggcgctgGactcttggagtgaaacgaaa	11	8	4	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:495084G>T	ENST00000399788.2	-	2	584	c.222C>A	c.(220-222)gtC>gtA	p.V74V	KDM5A_ENST00000382815.4_Silent_p.V74V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	74					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCAGGCGCTGGACTCTTGGAG	0.383			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0								ENSG00000073614						109	107	107					12																	495084		1842	4107	5949	KDM5A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.222C>A	12.37:g.495084G>T		Somatic	0	72	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8MV76|Q4LE72|Q86XZ1	Silent	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.V74	ENST00000399788.2	37	c.222	CCDS41736.1	12																																																																																			-	superfamily_ARID/BRIGHT_DNA-bd		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	protein_coding	OTTHUMT00000397812.1	G	NM_005056	-		495084	-1	no_errors	ENST00000399788	ensembl	human	known	74_37	silent	SNP	0.990	T	T	495084	G	T	495084	2	4	91	1	0	0	0	0	0	0	0	1	8135	1161	41	3		3	KDM5A	12	495084	Silent	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		495084	133356811	21	5107											
LRRK2	120892	genome.wustl.edu	37	chr12	40704301	40704301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctgatgagaagcaacgCaaagcctgcatgagtaaaat	10	7	1	3	rs35363614		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:40704301C>T	ENST00000298910.7	+	31	4444	c.4386C>T	c.(4384-4386)cgC>cgT	p.R1462R		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1462	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGCAACGCAAAGCCTGCA	0.483																																																	0								ENSG00000188906						154	147	149					12																	40704301		2203	4300	6503	LRRK2	SO:0001819	synonymous_variant	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4386C>T	12.37:g.40704301C>T		Somatic	0	30	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	72	11.11	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R1462	ENST00000298910.7	37	c.4386	CCDS31774.1	12																																																																																			-	superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom		0.483	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	C	XM_058513	-		40704301	1	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	SNP	0.996	T	T	40704301	C	T	40704301	2	4	91	1	0	0	0	0	0	0	0	1	9035	697	25	2		2	LRRK2	12	40704301	Silent	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	40209217	40704301	93147594	22	5108											
PAN2	9924	genome.wustl.edu	37	chr12	56722345	56722345	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccattctccaggctctggatCtgccgaatatcatcactgcc	7	15	5	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:56722345C>A	ENST00000425394.2	-	3	739	c.363G>T	c.(361-363)caG>caT	p.Q121H	PAN2_ENST00000440411.3_Missense_Mutation_p.Q121H|PAN2_ENST00000548043.1_Missense_Mutation_p.Q121H|PAN2_ENST00000257931.5_Missense_Mutation_p.Q121H	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGCTCTGGATCTGCCGAATAT	0.468																																																	0								ENSG00000135473						75	74	74					12																	56722345		2203	4300	6503	PAN2	SO:0001583	missense	0			-	HGNC	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.363G>T	12.37:g.56722345C>A	ENSP00000401721:p.Gln121His	Somatic	0	44	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33		Missense_Mutation	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67	p.Q121H	ENST00000425394.2	37	c.363	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075477	0.36662	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.07	1.13	0.20643	WD40 repeat-like-containing domain (1);	0.113886	0.64402	N	0.000009	T	0.36552	0.0971	N	0.19112	0.55	0.34792	D	0.735888	B;B;B	0.21821	0.061;0.061;0.036	B;B;B	0.23716	0.032;0.048;0.014	T	0.22382	-1.0218	10	0.37606	T	0.19	-7.8219	6.3169	0.21196	0.0:0.6378:0.1336:0.2286	.	121;121;121	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	H	121	ENSP00000401721:Q121H;ENSP00000388231:Q121H;ENSP00000257931:Q121H;ENSP00000449861:Q121H	ENSP00000257931:Q121H	Q	-	3	2	PAN2	55008612	0.999000	0.42202	0.998000	0.56505	0.989000	0.77384	0.558000	0.23469	0.106000	0.17784	0.650000	0.86243	CAG	-	superfamily_WD40_repeat_dom		0.468	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	protein_coding	OTTHUMT00000409024.1	C	NM_014871	-		56722345	-1	no_errors	ENST00000425394	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56722345	C	A	56722345	3	1	91	1	0	0	0	0	1	0	0	0	11416	912	32	3	3341	3	PAN2	12	56722345	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	16018044	56722345	77129550	23	5109											
NUP107	57122	genome.wustl.edu	37	chr12	69113363	69113363	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgctattttataggaacaGaattagaacctgttgaaggg	10	4	0	3			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:69113363G>C	ENST00000229179.4	+	14	1512	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	NUP107_ENST00000378905.2_Missense_Mutation_p.E243Q|NUP107_ENST00000539906.1_Missense_Mutation_p.E365Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	394					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 export from nucleus (GO:0006406)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATAGGAACAGAATTAGAACC	0.299																																																	0								ENSG00000111581						40	45	43					12																	69113363		2191	4295	6486	NUP107	SO:0001583	missense	0			-	HGNC	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1180G>C	12.37:g.69113363G>C	ENSP00000229179:p.Glu394Gln	Somatic	0	58	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	77	41.22	B4DZ67|Q6PJE1	Missense_Mutation	SNP							pfam_Nup84_Nup100	p.E394Q	ENST00000229179.4	37	c.1180	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070557	0.76301	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.4	4.51	0.55191	.	0.043741	0.85682	D	0.000000	T	0.77452	0.4132	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.74674	0.984;0.978;0.976	T	0.79017	-0.1975	8	.	.	.	-12.8188	14.4398	0.67309	0.0714:0.0:0.9286:0.0	.	365;243;394	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	Q	394;243;365	.	.	E	+	1	0	NUP107	67399630	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.292000	0.78731	1.425000	0.47237	0.484000	0.47621	GAA	-	pfam_Nup84_Nup100		0.299	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	protein_coding	OTTHUMT00000403195.1	G	NM_020401	-		69113363	1	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	SNP	1.000	C	C	69113363	G	C	69113363	3	2	91	1	0	0	0	0	1	0	0	0	10755	943	33	4	1234	4	NUP107	12	69113363	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	12391018	69113363	64738532	24	5110											
CPM	1368	genome.wustl.edu	37	chr12	69264130	69264130	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccttgagacattattatattCaaaagcatcggggaaatttc	7	7	1	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:69264130C>T	ENST00000551568.1	-	5	541	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CPM_ENST00000338356.3_Missense_Mutation_p.E161K|CPM_ENST00000546373.1_Missense_Mutation_p.E161K	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	161					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTATTATATTCAAAAGCATCG	0.418																																																	0								ENSG00000135678						81	83	82					12																	69264130		2203	4300	6503	CPM	SO:0001583	missense	0			-	HGNC	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.481G>A	12.37:g.69264130C>T	ENSP00000448517:p.Glu161Lys	Somatic	0	44	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	120	360	25.00	B2R800|Q9H2K9	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E161K	ENST00000551568.1	37	c.481	CCDS8987.1	12	.	.	.	.	.	.	.	.	.	.	C	9.359	1.067446	0.20067	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.37	5.37	0.77165	Peptidase M14, carboxypeptidase A (2);	0.684609	0.14495	N	0.316092	T	0.09379	0.0231	L	0.31371	0.925	0.58432	D	0.999998	B	0.19200	0.034	B	0.19148	0.024	T	0.23691	-1.0181	9	.	.	.	-8.2792	12.8027	0.57594	0.0:0.9248:0.0:0.0751	.	161	P14384	CBPM_HUMAN	K	161	ENSP00000448517:E161K;ENSP00000339157:E161K;ENSP00000447255:E161K;ENSP00000446799:E161K	.	E	-	1	0	CPM	67550397	1.000000	0.71417	0.982000	0.44146	0.283000	0.27025	1.781000	0.38644	2.689000	0.91719	0.655000	0.94253	GAA	-	pfam_Peptidase_M14,pfam_Aste_AspA,smart_Peptidase_M14		0.418	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPM	protein_coding	OTTHUMT00000403355.1	C	NM_198320	-		69264130	-1	no_errors	ENST00000338356	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69264130	C	T	69264130	3	4	91	1	0	0	0	0	1	0	0	0	3810	835	29	2	870	2	CPM	12	69264130	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	150767	69264130	64587765	25	5111											
GLIPR1L1	256710	genome.wustl.edu	37	chr12	75737700	75737700	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtctatcatgctccagagtCtgtggccattatacacaggt	9	10	3	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr12:75737700C>G	ENST00000378695.4	+	2	492	c.402C>G	c.(400-402)gtC>gtG	p.V134V	GLIPR1L1_ENST00000312442.2_Silent_p.V134V|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	134	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						GCTCCAGAGTCTGTGGCCATT	0.333																																																	0								ENSG00000173401						83	82	82					12																	75737700		2203	4300	6503	GLIPR1L1	SO:0001819	synonymous_variant	0			-	HGNC	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.402C>G	12.37:g.75737700C>G		Somatic	0	91	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	166	92	64.34	Q96L06	Silent	SNP							pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.V134	ENST00000378695.4	37	c.402		12																																																																																			-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_V5_allergen		0.333	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	protein_coding	OTTHUMT00000405714.1	C	NM_152779	-		75737700	1	no_errors	ENST00000378695	ensembl	human	known	74_37	silent	SNP	0.031	G	G	75737700	C	G	75737700	2	3	91	1	0	0	0	0	0	0	0	1	6444	900	32	4		4	GLIPR1L1	12	75737700	Silent	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	6473570	75737700	58114195	26	5112											
TGM1	7051	genome.wustl.edu	37	chr14	24723980	24723980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggccccctggtccaCaagatggggccggtattcct	12	14	0	1			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr14:24723980C>T	ENST00000206765.6	-	13	2101	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	TGM1_ENST00000544573.1_Missense_Mutation_p.V218M	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	660					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCTGGTCCACAAGATGGGGC	0.627																																																	0								ENSG00000092295						74	69	71					14																	24723980		2203	4300	6503	TGM1	SO:0001583	missense	0			-	HGNC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1978G>A	14.37:g.24723980C>T	ENSP00000206765:p.Val660Met	Somatic	0	44	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B4DWR7|Q197M4	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V660M	ENST00000206765.6	37	c.1978	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829143	0.90955	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.71461	-0.57;-0.57	5.31	5.31	0.75309	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	M	0.74647	2.275	0.53688	D	0.999976	D	0.89917	1.0	D	0.79784	0.993	D	0.85020	0.0911	10	0.72032	D	0.01	-16.2017	16.5174	0.84304	0.0:1.0:0.0:0.0	.	660	P22735	TGM1_HUMAN	M	660;218	ENSP00000206765:V660M;ENSP00000439446:V218M	ENSP00000206765:V660M	V	-	1	0	TGM1	23793820	0.994000	0.37717	0.976000	0.42696	0.954000	0.61252	3.160000	0.50739	2.754000	0.94517	0.655000	0.94253	GTG	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.627	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	protein_coding	OTTHUMT00000073160.6	C	NM_000359	-		24723980	-1	no_errors	ENST00000206765	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24723980	C	T	24723980	3	4	91	1	0	0	0	0	1	0	0	0	15836	478	17	2	487	2	TGM1	14	24723980	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09		24723980	82625560	27	5113											
ANGEL1	23357	genome.wustl.edu	37	chr14	77275610	77275610	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcatggggatagctgcCcacatggagccctccacccc	11	16	0	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr14:77275610C>T	ENST00000251089.2	-	2	553	c.441G>A	c.(439-441)tgG>tgA	p.W147*	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	147										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GGATAGCTGCCCACATGGAGC	0.632																																																	0								ENSG00000013523						33	35	34					14																	77275610		2203	4300	6503	ANGEL1	SO:0001587	stop_gained	0			-	HGNC	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.441G>A	14.37:g.77275610C>T	ENSP00000251089:p.Trp147*	Somatic	0	23	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B4DWL7|O94859|Q8NCS9	Nonsense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.W147*	ENST00000251089.2	37	c.441	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767922	0.69878	.	.	ENSG00000013523	ENST00000251089	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.8548	17.7836	0.88531	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000251089:W147X	W	-	3	0	ANGEL1	76345363	1.000000	0.71417	0.997000	0.53966	0.439000	0.31926	3.264000	0.51553	2.644000	0.89710	0.655000	0.94253	TGG	-	NULL		0.632	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	protein_coding	OTTHUMT00000413712.2	C	NM_015305	-		77275610	-1	no_errors	ENST00000251089	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	77275610	C	T	77275610	4	4	91	1	0	0	0	0	0	1	0	0	608	624	22	2	1607	2	ANGEL1	14	77275610	Nonsense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	52551630	77275610	30073930	28	5114											
BCL11B	64919	genome.wustl.edu	37	chr14	99724166	99724166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatggcggcctccacatgGtcagcctctgctggagacag	14	12	2	1	rs200739087		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr14:99724166G>T	ENST00000357195.3	-	2	78	c.69C>A	c.(67-69)gaC>gaA	p.D23E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Missense_Mutation_p.D23E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	23					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCTCCACATGGTCAGCCTCTG	0.607			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0								ENSG00000127152						37	41	40					14																	99724166		2203	4300	6503	BCL11B	SO:0001583	missense	0			-	HGNC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.69C>A	14.37:g.99724166G>T	ENSP00000349723:p.Asp23Glu	Somatic	0	34	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q9H162	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D23E	ENST00000357195.3	37	c.69	CCDS9950.1	14	.	.	.	.	.	.	.	.	.	.	G	3.928	-0.016771	0.07681	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.09350	3.03;2.99	6.08	3.19	0.36642	.	1.050250	0.07554	N	0.915841	T	0.05547	0.0146	N	0.05280	-0.08	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.003;0.005	T	0.29852	-0.9998	10	0.02654	T	1	-15.209	11.5647	0.50798	0.0638:0.2481:0.6881:0.0	.	23;23	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	E	23	ENSP00000349723:D23E;ENSP00000280435:D23E	ENSP00000280435:D23E	D	-	3	2	BCL11B	98793919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.032000	0.49736	0.402000	0.25451	0.655000	0.94253	GAC	-	NULL		0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	protein_coding	OTTHUMT00000072332.2	G	NM_138576	-		99724166	-1	no_errors	ENST00000357195	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99724166	G	T	99724166	3	4	91	1	0	0	0	0	1	0	0	0	1364	1252	44	3	2627	3	BCL11B	14	99724166	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09	22448556	99724166	7625374	29	5115											
ITGA11	22801	genome.wustl.edu	37	chr15	68612722	68612722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcagcaccctctggCagtactccctgagaacaaga	8	15	2	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr15:68612722C>T	ENST00000315757.7	-	20	2503	c.2417G>A	c.(2416-2418)tGc>tAc	p.C806Y	ITGA11_ENST00000423218.2_Missense_Mutation_p.C806Y	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	806					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACCCTCTGGCAGTACTCCCT	0.587																																																	0								ENSG00000137809						26	27	27					15																	68612722		2028	4191	6219	ITGA11	SO:0001583	missense	0			-	HGNC	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2417G>A	15.37:g.68612722C>T	ENSP00000327290:p.Cys806Tyr	Somatic	0	13	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.C806Y	ENST00000315757.7	37	c.2417	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376544	0.82682	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.60672	0.17;0.18	5.62	5.62	0.85841	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.77482	-0.2571	10	0.87932	D	0	.	18.6297	0.91355	0.0:1.0:0.0:0.0	.	806;806	A8K8T0;Q9UKX5	.;ITA11_HUMAN	Y	806;806;441	ENSP00000327290:C806Y;ENSP00000403392:C806Y	ENSP00000327290:C806Y	C	-	2	0	ITGA11	66399776	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.825000	0.69286	2.651000	0.90000	0.561000	0.74099	TGC	-	pfam_Integrin_alpha-2		0.587	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	protein_coding		C	NM_012211	-		68612722	-1	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68612722	C	T	68612722	3	4	91	1	0	0	0	0	1	0	0	0	7876	710	25	2	1193	2	ITGA11	15	68612722	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09		68612722	33918670	30	5116											
MVP	9961	genome.wustl.edu	37	chr16	29852944	29852944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgattggaagcacctacAtgctgacccaggacgaagtc	11	11	0	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr16:29852944A>G	ENST00000357402.5	+	9	1357	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	MVP_ENST00000395353.1_Missense_Mutation_p.M407V|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	407					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AAGCACCTACATGCTGACCCA	0.622																																																	0								ENSG00000013364						26	24	25					16																	29852944		2197	4299	6496	MVP	SO:0001583	missense	0			-	HGNC	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1219A>G	16.37:g.29852944A>G	ENSP00000349977:p.Met407Val	Somatic	0	39	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP							pfam_Vault_N,pfam_MVP_shoulder	p.M407V	ENST00000357402.5	37	c.1219	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167990	0.57476	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.11604	2.76;2.76	5.61	5.61	0.85477	.	0.036730	0.85682	D	0.000000	T	0.36413	0.0966	M	0.91972	3.26	0.80722	D	1	D	0.58268	0.982	P	0.58266	0.836	T	0.42015	-0.9476	10	0.54805	T	0.06	-41.5369	13.7625	0.62975	1.0:0.0:0.0:0.0	.	407	Q14764	MVP_HUMAN	V	407	ENSP00000349977:M407V;ENSP00000378760:M407V	ENSP00000349977:M407V	M	+	1	0	MVP	29760445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.324000	0.79115	2.123000	0.65237	0.460000	0.39030	ATG	-	NULL		0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	protein_coding	OTTHUMT00000109711.3	A	NM_005115	-		29852944	1	no_errors	ENST00000357402	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29852944	A	G	29852944	3	3	91	1	0	0	0	0	1	0	0	0	9998	217	8	5	1249	5	MVP	16	29852944	Missense_Mutation	SNP	A	TCGA-DX-A7ES-01A-31D-A38Z-09		29852944	60501809	31	5117											
HYDIN	54768	genome.wustl.edu	37	chr16	71196449	71196449	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catacctacaagttttgatgTgaaatacagcatttttgttg	7	6	0	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr16:71196449T>A	ENST00000393567.2	-	6	851	c.701A>T	c.(700-702)cAc>cTc	p.H234L	HYDIN_ENST00000448691.1_Missense_Mutation_p.H234L|HYDIN_ENST00000448089.2_Missense_Mutation_p.H234L|HYDIN_ENST00000541601.1_Missense_Mutation_p.H251L|HYDIN_ENST00000393550.2_Missense_Mutation_p.H234L|HYDIN_ENST00000288168.10_Missense_Mutation_p.H251L|HYDIN_ENST00000321489.5_Missense_Mutation_p.H234L|HYDIN_ENST00000538248.1_Missense_Mutation_p.H261L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	234					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)				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)				AGTTTTGATGTGAAATACAGC	0.388																																																	0								ENSG00000157423						62	59	60					16																	71196449		2196	4296	6492	HYDIN	SO:0001583	missense	0			-	HGNC	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.701A>T	16.37:g.71196449T>A	ENSP00000377197:p.His234Leu	Somatic	0	73	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_PapD-like	p.H234L	ENST00000393567.2	37	c.701	CCDS59269.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.96|11.96	1.796117|1.796117	0.31777|0.31777	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000538382	T;T;T;T;T;T;T;T|.	0.14266|.	5.6;3.76;3.76;3.76;3.75;3.76;3.39;2.52|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.32819|.	U|.	0.005610|.	T|T	0.69142|0.69142	0.3078|0.3078	L|L	0.57536|0.57536	1.79|1.79	0.40268|0.40268	D|D	0.978254|0.978254	B;B;B;B;P|.	0.40180|.	0.0;0.0;0.001;0.0;0.705|.	B;B;B;B;B|.	0.38327|.	0.003;0.003;0.004;0.003;0.271|.	T|T	0.69480|0.69480	-0.5134|-0.5134	10|5	0.07175|.	T|.	0.84|.	.|.	14.5089|14.5089	0.67772|0.67772	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	261;251;251;234;234|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	L|S	234;234;234;234;234;261;251;251;234|73	ENSP00000377197:H234L;ENSP00000398544:H234L;ENSP00000394826:H234L;ENSP00000314736:H234L;ENSP00000444970:H261L;ENSP00000437341:H251L;ENSP00000288168:H251L;ENSP00000377181:H234L|.	ENSP00000288168:H251L|.	H|T	-|-	2|1	0|0	HYDIN|HYDIN	69753950|69753950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	1.507000|1.507000	0.35758|0.35758	1.980000|1.980000	0.57719|0.57719	0.482000|0.482000	0.46254|0.46254	CAC|ACA	-	superfamily_PapD-like		0.388	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	T		-		71196449	-1	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71196449	T	A	71196449	3	1	91	1	0	0	0	0	1	0	0	0	7469	1696	59	5	14997	5	HYDIN	16	71196449	Missense_Mutation	SNP	T	TCGA-DX-A7ES-01A-31D-A38Z-09	41343505	71196449	19158304	32	5118											
DSC3	1825	genome.wustl.edu	37	chr18	28612217	28612217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattaagtatcacctttttgCaggcttcaccagcacgactg	7	12	2	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr18:28612217C>T	ENST00000360428.4	-	2	175	c.95G>A	c.(94-96)tGc>tAc	p.C32Y	DSC3_ENST00000434452.1_Missense_Mutation_p.C32Y	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	32					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CACCTTTTTGCAGGCTTCACC	0.294																																																	0								ENSG00000134762						82	79	80					18																	28612217		2202	4300	6502	DSC3	SO:0001583	missense	0			-	HGNC	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.95G>A	18.37:g.28612217C>T	ENSP00000353608:p.Cys32Tyr	Somatic	0	43	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.C32Y	ENST00000360428.4	37	c.95	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948661	0.73787	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.41065	1.01;1.01	5.35	5.35	0.76521	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.57184	0.2036	M	0.81112	2.525	0.58432	D	0.999995	P;P	0.52170	0.865;0.951	P;P	0.49665	0.519;0.618	T	0.60131	-0.7323	9	0.44086	T	0.13	.	17.9938	0.89176	0.0:1.0:0.0:0.0	.	32;32	Q14574;Q14574-2	DSC3_HUMAN;.	Y	32	ENSP00000353608:C32Y;ENSP00000392068:C32Y	ENSP00000353608:C32Y	C	-	2	0	DSC3	26866215	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	3.242000	0.51384	2.780000	0.95670	0.655000	0.94253	TGC	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like		0.294	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	protein_coding	OTTHUMT00000447384.1	C	NM_001941, NM_024423	-		28612217	-1	no_errors	ENST00000360428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28612217	C	T	28612217	3	4	91	1	0	0	0	0	1	0	0	0	4769	710	25	2	2686	2	DSC3	18	28612217	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09		28612217	49465031	33	5119											
CEP250	11190	genome.wustl.edu	37	chr20	34055380	34055380	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggctgaacttcaggaccGgtgagatggcctggggtccc	16	10	1	2	rs139021763		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr20:34055380G>A	ENST00000397527.1	+	9	1571	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	CEP250_ENST00000397524.1_Splice_Site_p.R284Q|CEP250_ENST00000342580.4_Splice_Site_p.R284Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	284					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTCAGGACCGGTGAGATGGC	0.572																																																	0								ENSG00000126001	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	60	52	55		851	5.1	1	20	dbSNP_134	55	0,8600		0,0,4300	no	missense-near-splice	CEP250	NM_007186.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	284/2443	34055380	1,13005	2203	4300	6503	CEP250	SO:0001630	splice_region_variant	0			-	HGNC	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.851+1G>A	20.37:g.34055380G>A		Somatic	0	21	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP							superfamily_Prefoldin	p.R284Q	ENST00000397527.1	37	c.851	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397522	0.62177	2.27E-4	0.0	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.64438	2.17;2.17;-0.1;1.28	6.08	5.14	0.70334	.	0.602442	0.14926	N	0.290385	T	0.52322	0.1727	L	0.51914	1.62	0.43740	D	0.996238	B;P	0.43287	0.135;0.802	B;B	0.32533	0.016;0.147	T	0.53208	-0.8471	10	0.39692	T	0.17	.	12.5871	0.56424	0.0771:0.0:0.9229:0.0	.	284;284	A6PVI9;Q9BV73	.;CP250_HUMAN	Q	284	ENSP00000380661:R284Q;ENSP00000341541:R284Q;ENSP00000380658:R284Q;ENSP00000413827:R284Q	ENSP00000341541:R284Q	R	+	2	0	CEP250	33518794	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.910000	0.56371	1.582000	0.49881	0.655000	0.94253	CGG	-	NULL		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	G	NM_007186	rs139021763	Missense_Mutation	34055380	1	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34055380	G	A	34055380	5	1	91	1	0	0	0	0	0	0	1	0	3254	1130	39	1	873	1	CEP250	20	34055380	Splice_Site	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		34055380	28970140	34	5120											
GNAS	2778	genome.wustl.edu	37	chr20	57430245	57430245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagaaggtacccctggCggagaagcgcagacagatgc	15	10	1	4			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr20:57430245C>T	ENST00000371100.4	+	1	2477	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A642V|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A642V|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R579W	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACCCCTGGCGGAGAAGCGC	0.592			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0								ENSG00000087460						24	28	27					20																	57430245		2027	4202	6229	GNAS	SO:0001583	missense	0			-	HGNC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1925C>T	20.37:g.57430245C>T	ENSP00000360141:p.Ala642Val	Somatic	0	45	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.A642V	ENST00000371100.4	37	c.1925	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.632|3.632	-0.075297|-0.075297	0.07184|0.07184	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102;ENST00000349036|ENST00000306120;ENST00000423897	D;D;D|.	0.89810|.	-2.41;-2.41;-2.57|.	3.84|3.84	-3.82|-3.82	0.04281|0.04281	.|.	11.375600|.	0.00166|.	N|.	0.000002|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.08118|0.08118	0|0	0.24069|0.24069	N|N	0.995984|0.995984	B|.	0.28178|.	0.202|.	B|.	0.17433|.	0.018|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|6	0.44086|0.87932	T|D	0.13|0	.|.	4.5295|4.5295	0.11997|0.11997	0.5251:0.2857:0.0:0.1892|0.5251:0.2857:0.0:0.1892	.|.	642|.	Q5JWF2|.	GNAS1_HUMAN|.	V|W	642;642;642;15|579;5	ENSP00000360141:A642V;ENSP00000360143:A642V;ENSP00000265621:A15V|.	ENSP00000265621:A15V|ENSP00000302237:R579W	A|R	+|+	2|1	0|2	GNAS|GNAS	56863640|56863640	0.002000|0.002000	0.14202|0.14202	0.204000|0.204000	0.23530|0.23530	0.101000|0.101000	0.19017|0.19017	-0.367000|-0.367000	0.07553|0.07553	-0.810000|-0.810000	0.04375|0.04375	-0.362000|-0.362000	0.07510|0.07510	GCG|CGG	-	NULL		0.592	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	protein_coding	OTTHUMT00000080417.3	C	NM_000516	-		57430245	1	no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	SNP	0.333	T	T	57430245	C	T	57430245	3	4	91	1	0	0	0	0	1	0	0	0	6512	768	27	1	2669	1	GNAS	20	57430245	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	23374865	57430245	5595275	35	5121											
POFUT2	23275	genome.wustl.edu	37	chr21	46703407	46703407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctctgcgtaactttgcaGgacgtaaacctggtcaataa	8	12	2	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chr21:46703407G>T	ENST00000349485.5	-	3	444	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	POFUT2_ENST00000331343.7_Missense_Mutation_p.L140M|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	140					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TAACTTTGCAGGACGTAAACC	0.532																																																	0								ENSG00000186866						248	220	229					21																	46703407		2203	4300	6503	POFUT2	SO:0001583	missense	0			-	HGNC	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.418C>A	21.37:g.46703407G>T	ENSP00000339613:p.Leu140Met	Somatic	0	55	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP							pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749	p.L140M	ENST00000349485.5	37	c.418	CCDS13719.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.450447|2.450447	0.43531|0.43531	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000331343;ENST00000349485|ENST00000451615	T;T|.	0.34275|.	1.37;1.37|.	4.52|4.52	3.63|3.63	0.41609|0.41609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76205|0.76205	0.3955|0.3955	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.78099|0.78099	-0.2336|-0.2336	10|5	0.62326|.	D|.	0.03|.	-21.8352|-21.8352	10.6054|10.6054	0.45392|0.45392	0.0965:0.0:0.9035:0.0|0.0965:0.0:0.9035:0.0	.|.	140;140|.	Q9Y2G5-1;Q9Y2G5|.	.;OFUT2_HUMAN|.	M|H	140|17	ENSP00000329682:L140M;ENSP00000339613:L140M|.	ENSP00000329682:L140M|.	L|P	-|-	1|2	2|0	POFUT2|POFUT2	45527835|45527835	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.029000|0.029000	0.11900|0.11900	7.299000|7.299000	0.78831|0.78831	1.034000|1.034000	0.39945|0.39945	-0.142000|-0.142000	0.14014|0.14014	CTG|CCT	-	pfam_GDP-Fuc_O-FucTrfase		0.532	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	protein_coding	OTTHUMT00000192573.2	G	NM_015227	-		46703407	-1	no_errors	ENST00000349485	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46703407	G	T	46703407	3	4	91	1	0	0	0	0	1	0	0	0	12186	991	35	3	1038	3	POFUT2	21	46703407	Missense_Mutation	SNP	G	TCGA-DX-A7ES-01A-31D-A38Z-09		46703407	1426488	36	5122											
GPKOW	27238	genome.wustl.edu	37	chrX	48973411	48973429	+	Frame_Shift_Del	DEL	CCTGCTGGGAGACAGGCCG	CCTGCTGGGAGACAGGCCG	-													caaggtgttcttgtcaaactCctgctgggagacaggccgca					rs368470725		TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	CCTGCTGGGAGACAGGCCG	CCTGCTGGGAGACAGGCCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chrX:48973411_48973429delCCTGCTGGGAGACAGGCCG	ENST00000156109.5	-	6	946_964	c.868_886delCGGCCTGTCTCCCAGCAGG	c.(868-888)cggcctgtctcccagcaggagfs	p.RPVSQQE290fs		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	290						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TTGTCAAACTCCTGCTGGGAGACAGGCCGCAGGTAGTAC	0.566																																																	0								ENSG00000068394																																			GPKOW	SO:0001589	frameshift_variant	0				HGNC	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.868_886delCGGCCTGTCTCCCAGCAGG	X.37:g.48973411_48973429delCCTGCTGGGAGACAGGCCG	ENSP00000156109:p.Arg290fs	Somatic					0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q59EK5|Q9BQA8	Frame_Shift_Del	DEL							pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.R290fs	ENST00000156109.5	37	c.886_868	CCDS35251.1	X																																																																																			-	NULL		0.566	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	protein_coding	OTTHUMT00000056535.2	CCTGCTGGGAGACAGGCCG	NM_015698			48973429	-1	no_errors	ENST00000156109	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.998:0.990:0.536:0.595:0.805:0.856:0.830:0.816:0.730:0.514:0.607:0.575:0.077:0.077:0.054:0.028:0.016:0.001	-	-	48973429	CCTGCTGGGAGACAGGCCG	-	48973411	7	5	91	1	0	1	0	1	0	0	0	0	6615	864	30	0	568	0	GPKOW	23	48973411	Frame_Shift_Del	DEL	CCTGCTGGGAGACAGGCCG	TCGA-DX-A7ES-01A-31D-A38Z-09		48973411	106297149	37	5123											
TRO	7216	genome.wustl.edu	37	chrX	54956774	54956774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatgggttaagcaccaAtgctggatttggtggtggac	15	6	0	0			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chrX:54956774A>G	ENST00000173898.7	+	12	3729	c.3617A>G	c.(3616-3618)aAt>aGt	p.N1206S	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.N809S|TRO_ENST00000420798.2_Missense_Mutation_p.N737S|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1206	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						TTAAGCACCAATGCTGGATTT	0.542																																																	0								ENSG00000067445						60	58	59					X																	54956774		2050	4176	6226	TRO	SO:0001583	missense	0			-	HGNC	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.3617A>G	X.37:g.54956774A>G	ENSP00000173898:p.Asn1206Ser	Somatic	0	24	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.N1206S	ENST00000173898.7	37	c.3617	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.661597	0.00772	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.07114	3.22;3.22;3.22	2.85	1.98	0.26296	.	.	.	.	.	T	0.02455	0.0075	N	0.01705	-0.755	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.25884	0.044;0.064	T	0.46541	-0.9184	9	0.02654	T	1	.	4.6909	0.12780	0.3235:0.0:0.6765:0.0	.	809;1206	B1AKE9;Q12816	.;TROP_HUMAN	S	1206;737;809	ENSP00000173898:N1206S;ENSP00000405126:N737S;ENSP00000364181:N809S	ENSP00000173898:N1206S	N	+	2	0	TRO	54973499	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-0.236000	0.09003	0.153000	0.19213	-0.228000	0.12330	AAT	-	NULL		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	protein_coding	OTTHUMT00000056837.3	A	NM_016157	-		54956774	1	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	SNP	0.015	G	G	54956774	A	G	54956774	3	3	91	1	0	0	0	0	1	0	0	0	16581	101	4	5	3659	5	TRO	23	54956774	Missense_Mutation	SNP	A	TCGA-DX-A7ES-01A-31D-A38Z-09	5983363	54956774	100313786	38	5124											
DOCK11	139818	genome.wustl.edu	37	chrX	117744376	117744376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actatagtttggctagcttcCtgaaggtgagttcaaggcag	12	7	1	2			TCGA-DX-A7ES-01A-31D-A38Z-09	TCGA-DX-A7ES-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	350f490c-6cb9-42f6-a54e-4707072be422	f5ab5ae4-49e5-4a01-9112-6aa58c023e0e	g.chrX:117744376C>A	ENST00000276202.7	+	28	3154	c.3091C>A	c.(3091-3093)Ctg>Atg	p.L1031M	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1031M	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1031					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCTAGCTTCCTGAAGGTGAG	0.433																																																	0								ENSG00000147251						91	78	82					X																	117744376		2203	4300	6503	DOCK11	SO:0001583	missense	0			-	HGNC	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3091C>A	X.37:g.117744376C>A	ENSP00000276202:p.Leu1031Met	Somatic	0	59	0		0.534437794321074				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1031M	ENST00000276202.7	37	c.3091	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038419	0.55003	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75050	-0.9;-0.9	5.14	3.38	0.38709	.	0.071602	0.56097	D	0.000034	T	0.82176	0.4980	M	0.82323	2.585	0.37226	D	0.905459	D;D	0.63046	0.984;0.992	P;P	0.59948	0.823;0.866	T	0.82849	-0.0254	10	0.72032	D	0.01	-6.7619	6.3086	0.21153	0.1471:0.695:0.0:0.1579	.	1031;1031	A6NIW2;Q5JSL3	.;DOC11_HUMAN	M	1031	ENSP00000276204:L1031M;ENSP00000276202:L1031M	ENSP00000276202:L1031M	L	+	1	2	DOCK11	117628404	1.000000	0.71417	0.812000	0.32479	0.901000	0.52897	3.385000	0.52485	0.502000	0.28037	-0.198000	0.12761	CTG	-	NULL		0.433	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	protein_coding	OTTHUMT00000356002.1	C	NM_144658	-		117744376	1	no_errors	ENST00000276202	ensembl	human	known	74_37	missense	SNP	0.998	A	A	117744376	C	A	117744376	3	1	91	1	0	0	0	0	1	0	0	0	4688	680	24	3	3201	3	DOCK11	23	117744376	Missense_Mutation	SNP	C	TCGA-DX-A7ES-01A-31D-A38Z-09	62787602	117744376	37526184	39	5125											
TTLL10	254173	genome.wustl.edu	37	chr1	1117778	1117778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttttcccagagacctacCgcctggacctcaaacacgag	8	14	1	1	rs367856945		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:1117778C>T	ENST00000379290.1	+	10	1041	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.R290C|TTLL10_ENST00000379288.3_Missense_Mutation_p.R217C			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	290	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAGACCTACCGCCTGGACCT	0.617																																																	0								ENSG00000162571		CYS/ARG,CYS/ARG	3,4403	4.2+/-10.8	0,3,2200	119	117	117		868,649	3.2	1	1		117	0,8600		0,0,4300	no	missense,missense	TTLL10	NM_001130045.1,NM_153254.2	180,180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	290/674,217/405	1117778	3,13003	2203	4300	6503	TTLL10	SO:0001583	missense	0			-	HGNC	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.868C>T	1.37:g.1117778C>T	ENSP00000368592:p.Arg290Cys	Somatic	0	73	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	53	43.01	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.R290C	ENST00000379290.1	37	c.868	CCDS44036.1	1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468080	0.43839	6.81E-4	0.0	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.05717	3.4;3.4;3.4	3.16	3.16	0.36331	.	0.581837	0.15621	N	0.252865	T	0.17238	0.0414	L	0.52573	1.65	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.73380	0.97;0.98	T	0.01909	-1.1249	10	0.36615	T	0.2	.	12.1869	0.54245	0.0:1.0:0.0:0.0	.	217;290	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	C	290;290;217	ENSP00000368592:R290C;ENSP00000368591:R290C;ENSP00000368590:R217C	ENSP00000368590:R217C	R	+	1	0	TTLL10	1107641	1.000000	0.71417	0.968000	0.41197	0.038000	0.13279	6.094000	0.71431	1.793000	0.52555	0.479000	0.44913	CGC	-	pfam_TTL/TTLL_fam		0.617	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	protein_coding	OTTHUMT00000002421.3	C	NM_153254	-		1117778	1	no_errors	ENST00000379289	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1117778	C	T	1117778	3	4	92	1	0	0	0	0	1	0	0	0	16730	652	23	1	894	1	TTLL10	1	1117778	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09		1117778	248132843	1	5126											
DNAJC11	55735	genome.wustl.edu	37	chr1	6696236	6696236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgatgcaggacgcccCggaactgatagagcactttc	10	13	1	3	rs558222069		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:6696236C>T	ENST00000377577.5	-	15	1718	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R494Q|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R442Q|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R480Q	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	532						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGACGCCCCGGAACTGATA	0.557													C|||	1	0.000199681	0	0	5008	,	,		18357	0		0	False		,,,				2504	0.001																0								ENSG00000007923						90	77	82					1																	6696236		2203	4300	6503	DNAJC11	SO:0001583	missense	0			-	HGNC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1595G>A	1.37:g.6696236C>T	ENSP00000366800:p.Arg532Gln	Somatic	0	74	0		0.515229469712394	26	39.53	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP							pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.R532Q	ENST00000377577.5	37	c.1595	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781825	0.90282	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.26373	2.37;2.43;2.09;1.74	5.52	4.61	0.57282	DnaJ-like protein C11, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.40322	0.1112	L	0.48935	1.535	0.58432	D	0.999993	D;P;D	0.89917	1.0;0.933;0.978	D;B;P	0.67231	0.95;0.41;0.598	T	0.08868	-1.0701	10	0.27082	T	0.32	-15.5675	13.4422	0.61119	0.0:0.925:0.0:0.075	.	442;480;532	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	Q	532;480;494;442	ENSP00000366800:R532Q;ENSP00000294401:R480Q;ENSP00000444020:R494Q;ENSP00000366796:R442Q	ENSP00000294401:R480Q	R	-	2	0	DNAJC11	6618823	1.000000	0.71417	0.893000	0.35052	0.991000	0.79684	7.298000	0.78815	1.329000	0.45376	0.655000	0.94253	CGG	-	pfam_DnaJ-like_C11_C		0.557	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	protein_coding	OTTHUMT00000004216.3	C	NM_018198	-		6696236	-1	no_errors	ENST00000377577	ensembl	human	known	74_37	missense	SNP	0.999	T	T	6696236	C	T	6696236	3	4	92	1	0	0	0	0	1	0	0	0	4632	652	23	1	92	1	DNAJC11	1	6696236	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	5578458	6696236	242554385	2	5127											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16054813	16054813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacctgcagctgctgtacGtgctgctcacagactgctat	10	13	1	1	rs199779846		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:16054813G>A	ENST00000375799.3	+	11	2109	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.V608M|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	628					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCTGCTGTACGTGCTGCTCAC	0.642																																																	0								ENSG00000116786						39	47	45					1																	16054813		2149	4255	6404	PLEKHM2	SO:0001583	missense	0			-	HGNC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1882G>A	1.37:g.16054813G>A	ENSP00000364956:p.Val628Met	Somatic	0	41	0		0.515229469712394	15	6.25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP							pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.V628M	ENST00000375799.3	37	c.1882	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570298	0.86542	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.55234	0.54;0.53	5.61	5.61	0.85477	.	0.144546	0.49305	D	0.000154	T	0.53158	0.1779	N	0.24115	0.695	0.54753	D	0.999981	D	0.63880	0.993	P	0.52758	0.708	T	0.57757	-0.7756	10	0.72032	D	0.01	-23.3302	17.8127	0.88620	0.0:0.0:1.0:0.0	.	628	Q8IWE5	PKHM2_HUMAN	M	628;608	ENSP00000364956:V628M;ENSP00000364950:V608M	ENSP00000364950:V608M	V	+	1	0	PLEKHM2	15927400	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.546000	0.73887	2.652000	0.90054	0.655000	0.94253	GTG	-	NULL		0.642	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	protein_coding	OTTHUMT00000008463.1	G	NM_015164	rs199779846		16054813	1	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16054813	G	A	16054813	3	1	92	1	0	0	0	0	1	0	0	0	12083	1145	40	1	1924	1	PLEKHM2	1	16054813	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	9358577	16054813	233195808	3	5128											
CNR2	1269	genome.wustl.edu	37	chr1	24202015	24202015	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcaacagctgtcttctgGggaccactcaggatcatgta	10	11	4	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:24202015G>T	ENST00000374472.4	-	2	254	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CNR2_ENST00000536471.1_Silent_p.P31P	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	31					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CTGTCTTCTGGGGACCACTCA	0.547																																																	0								ENSG00000188822						90	94	93					1																	24202015		2203	4300	6503	CNR2	SO:0001819	synonymous_variant	0			-	HGNC	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.93C>A	1.37:g.24202015G>T		Somatic	0	37	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.P31	ENST00000374472.4	37	c.93	CCDS245.1	1																																																																																			-	prints_Cnbnoid_rcpt		0.547	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR2	protein_coding	OTTHUMT00000038949.1	G	NM_001841	-		24202015	-1	no_errors	ENST00000374472	ensembl	human	known	74_37	silent	SNP	0.737	T	T	24202015	G	T	24202015	2	4	92	1	0	0	0	0	0	0	0	1	3634	1219	43	3		3	CNR2	1	24202015	Silent	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	8147202	24202015	225048606	4	5129											
LAPTM5	7805	genome.wustl.edu	37	chr1	31212769	31212769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggacaggaagggcagcaGgtacttctcccggttctgaa	14	10	2	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:31212769G>A	ENST00000294507.3	-	4	348	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	92					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGGCAGCAGGTACTTCTCC	0.592																																																	0								ENSG00000162511						152	112	126					1																	31212769		2203	4300	6503	LAPTM5	SO:0001819	synonymous_variant	0			-	HGNC	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.274C>T	1.37:g.31212769G>A		Somatic	0	57	0		0.515229469712394	71	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q13240|Q14698|Q3KP54	Silent	SNP							pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	p.L92	ENST00000294507.3	37	c.274	CCDS337.1	1																																																																																			-	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5		0.592	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM5	protein_coding	OTTHUMT00000010463.1	G	NM_006762	-		31212769	-1	no_errors	ENST00000294507	ensembl	human	known	74_37	silent	SNP	1.000	A	A	31212769	G	A	31212769	2	1	92	1	0	0	0	0	0	0	0	1	8628	991	35	2		2	LAPTM5	1	31212769	Silent	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	7010754	31212769	218037852	5	5130											
FAF1	11124	genome.wustl.edu	37	chr1	51267315	51267315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacatacctttgtagaatgCcattttcctgtggtattaca	6	8	0	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:51267315C>T	ENST00000396153.2	-	3	600	c.149G>A	c.(148-150)gGc>gAc	p.G50D	FAF1_ENST00000371778.4_Missense_Mutation_p.G50D	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	50	UBA.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTAGAATGCCATTTTCCTG	0.348																																																	3	Whole gene deletion(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)						ENSG00000185104						146	149	148					1																	51267315		2203	4300	6503	FAF1	SO:0001583	missense	0			-	HGNC	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.149G>A	1.37:g.51267315C>T	ENSP00000379457:p.Gly50Asp	Somatic	0	35	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP							pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.G50D	ENST00000396153.2	37	c.149	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809125	0.31961	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.34521	1.04	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.61941	-0.6959	9	0.51188	T	0.08	-23.4151	14.1249	0.65213	0.0:1.0:0.0:0.0	.	50	Q9UNN5	FAF1_HUMAN	D	50;50;42;50	.	ENSP00000360843:G50D	G	-	2	0	FAF1	51039903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.085000	0.57657	2.475000	0.83589	0.561000	0.74099	GGC	-	NULL		0.348	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	protein_coding	OTTHUMT00000021807.1	C	NM_007051	-		51267315	-1	no_errors	ENST00000371778	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51267315	C	T	51267315	3	4	92	1	0	0	0	0	1	0	0	0	5371	739	26	2	1871	2	FAF1	1	51267315	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	20054546	51267315	197983306	6	5131											
PRKAA2	5563	genome.wustl.edu	37	chr1	57173295	57173295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggctctttgaccggaaGcacattgtcttcagtttcac	8	12	4	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:57173295G>A	ENST00000371244.4	+	9	1634	c.1568G>A	c.(1567-1569)aGc>aAc	p.S523N		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	523			S -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTGACCGGAAGCACATTGTCT	0.468																																																	0								ENSG00000162409						177	158	164					1																	57173295		2203	4300	6503	PRKAA2	SO:0001583	missense	0			-	HGNC	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.1568G>A	1.37:g.57173295G>A	ENSP00000360290:p.Ser523Asn	Somatic	0	26	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q9H1E8|Q9UD43	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S523N	ENST00000371244.4	37	c.1568	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307104	0.40795	.	.	ENSG00000162409	ENST00000371244	T	0.72615	-0.67	5.46	4.55	0.56014	.	0.105227	0.64402	D	0.000009	T	0.62877	0.2464	L	0.40543	1.245	0.58432	D	0.999999	B	0.11235	0.004	B	0.12837	0.008	T	0.59830	-0.7380	10	0.42905	T	0.14	-12.4265	14.4749	0.67539	0.0701:0.0:0.9299:0.0	.	523	P54646	AAPK2_HUMAN	N	523	ENSP00000360290:S523N	ENSP00000360290:S523N	S	+	2	0	PRKAA2	56945883	1.000000	0.71417	0.971000	0.41717	0.609000	0.37215	5.204000	0.65180	1.538000	0.49270	0.655000	0.94253	AGC	-	NULL		0.468	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	G	NM_006252	-		57173295	1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57173295	G	A	57173295	3	1	92	1	0	0	0	0	1	0	0	0	12499	971	34	2	1602	2	PRKAA2	1	57173295	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	5905980	57173295	192077326	7	5132											
HMCN1	83872	genome.wustl.edu	37	chr1	186113796	186113796	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaggaaatgcgaagggagtGatgtccagagtgatttttgc	15	4	0	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr1:186113796G>A	ENST00000271588.4	+	91	14456	c.14227G>A	c.(14227-14229)Gat>Aat	p.D4743N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D4743N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4743	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						CGAAGGGAGTGATGTCCAGAG	0.473																																																	0								ENSG00000143341						119	111	113					1																	186113796		2203	4300	6503	HMCN1	SO:0001583	missense	0			-	HGNC	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.14227G>A	1.37:g.186113796G>A	ENSP00000271588:p.Asp4743Asn	Somatic	0	51	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.D4743N	ENST00000271588.4	37	c.14227	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306105	0.60305	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.60672	0.17;0.17	5.82	5.82	0.92795	.	0.188525	0.53938	D	0.000043	T	0.43964	0.1271	N	0.25201	0.72	0.43745	D	0.996245	B	0.16603	0.018	B	0.16289	0.015	T	0.26018	-1.0115	10	0.22109	T	0.4	.	15.2714	0.73705	0.0687:0.0:0.9313:0.0	.	4743	Q96RW7	HMCN1_HUMAN	N	4743	ENSP00000271588:D4743N;ENSP00000356462:D4743N	ENSP00000271588:D4743N	D	+	1	0	HMCN1	184380419	1.000000	0.71417	0.982000	0.44146	0.897000	0.52465	7.594000	0.82698	2.765000	0.95021	0.650000	0.86243	GAT	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.473	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	G	NM_031935	-		186113796	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	0.998	A	A	186113796	G	A	186113796	3	1	92	1	0	0	0	0	1	0	0	0	7222	1290	45	2	14589	2	HMCN1	1	186113796	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	128940501	186113796	63136825	8	5133											
ROCK2	9475	genome.wustl.edu	37	chr2	11355735	11355735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccttttctctttctaactGtcttaatgctgattccacac	4	13	3	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr2:11355735G>T	ENST00000315872.6	-	14	1946	c.1498C>A	c.(1498-1500)Cag>Aag	p.Q500K	ROCK2_ENST00000401753.1_Missense_Mutation_p.Q257K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	500	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCTAACTGTCTTAATGCT	0.308																																																	0								ENSG00000134318						73	69	71					2																	11355735		1812	4069	5881	ROCK2	SO:0001583	missense	0			-	HGNC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1498C>A	2.37:g.11355735G>T	ENSP00000317985:p.Gln500Lys	Somatic	0	56	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.Q500K	ENST00000315872.6	37	c.1498	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378604	0.61735	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	D;D	0.83163	-1.69;-1.69	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.63843	1.955	0.58432	D	0.999999	B	0.29341	0.242	B	0.29353	0.101	T	0.77635	-0.2514	10	0.18710	T	0.47	.	18.4356	0.90645	0.0:0.0:1.0:0.0	.	500	O75116	ROCK2_HUMAN	K	500;257	ENSP00000317985:Q500K;ENSP00000385509:Q257K	ENSP00000317985:Q500K	Q	-	1	0	ROCK2	11273186	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.676000	0.84012	2.434000	0.82447	0.655000	0.94253	CAG	-	pirsf_Rho-assoc_coiled-coil_kin		0.308	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	protein_coding	OTTHUMT00000313886.3	G		-		11355735	-1	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11355735	G	T	11355735	3	4	92	1	0	0	0	0	1	0	0	0	13526	1386	48	3	2748	3	ROCK2	2	11355735	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09		11355735	231843638	9	5134											
NCOA1	8648	genome.wustl.edu	37	chr2	24974871	24974871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatggttccccaaggtgagGccaactttgctccatctcta	9	12	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr2:24974871G>T	ENST00000406961.1	+	20	4379	c.3727G>T	c.(3727-3729)Gcc>Tcc	p.A1243S	NCOA1_ENST00000348332.3_Missense_Mutation_p.A1243S|NCOA1_ENST00000405141.1_Missense_Mutation_p.A1243S|NCOA1_ENST00000395856.3_Missense_Mutation_p.A1243S|NCOA1_ENST00000538539.1_Missense_Mutation_p.A1243S|NCOA1_ENST00000407230.1_Missense_Mutation_p.A1092S|NCOA1_ENST00000288599.5_Missense_Mutation_p.A1243S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1243					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGGTGAGGCCAACTTTGC	0.448			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								ENSG00000084676						79	72	75					2																	24974871		2203	4300	6503	NCOA1	SO:0001583	missense	0			-	HGNC	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3727G>T	2.37:g.24974871G>T	ENSP00000385216:p.Ala1243Ser	Somatic	0	53	0		0.515229469712394	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP							pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.A1243S	ENST00000406961.1	37	c.3727	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635907	0.47049	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.34	3.47	0.39725	Domain of unknown function DUF1518 (1);	0.117560	0.56097	D	0.000022	T	0.12689	0.0308	N	0.08118	0	0.25964	N	0.982585	B;B;B;B;B	0.29481	0.089;0.206;0.245;0.206;0.245	B;B;B;B;B	0.31946	0.098;0.085;0.138;0.085;0.138	T	0.23797	-1.0178	10	0.22109	T	0.4	.	9.9441	0.41598	0.0857:0.2256:0.6886:0.0	.	1243;1243;1243;1243;1092	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	S	1243;1243;1092;1243;1243;1243;1243	ENSP00000385216:A1243S;ENSP00000385097:A1243S;ENSP00000385195:A1092S;ENSP00000444039:A1243S;ENSP00000320940:A1243S;ENSP00000288599:A1243S;ENSP00000379197:A1243S	ENSP00000288599:A1243S	A	+	1	0	NCOA1	24828375	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.865000	0.48412	1.485000	0.48380	0.585000	0.79938	GCC	-	pfam_DUF1518,pirsf_Nuclear_rcpt_coactivator		0.448	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	protein_coding	OTTHUMT00000246852.3	G	NM_147223	-		24974871	1	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24974871	G	T	24974871	3	4	92	1	0	0	0	0	1	0	0	0	10230	1203	42	3	3789	3	NCOA1	2	24974871	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	13619136	24974871	218224502	10	5135											
IL18RAP	8807	genome.wustl.edu	37	chr2	103068622	103068622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaaccactgggaggagctCccagcctaaggaatggtgaa	13	9	0	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr2:103068622C>A	ENST00000264260.2	+	12	2370	c.1781C>A	c.(1780-1782)tCc>tAc	p.S594Y	IL18RAP_ENST00000409369.1_Missense_Mutation_p.S452Y	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	594					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGAGGAGCTCCCAGCCTAAG	0.512																																																	0								ENSG00000115607						70	79	76					2																	103068622		2203	4300	6503	IL18RAP	SO:0001583	missense	0			-	HGNC	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1781C>A	2.37:g.103068622C>A	ENSP00000264260:p.Ser594Tyr	Somatic	0	48	0		0.515229469712394	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.S594Y	ENST00000264260.2	37	c.1781	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915987	0.52546	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02709	4.26;4.19	5.92	4.97	0.65823	.	3.468750	0.00531	N	0.000215	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	0.999998	B	0.34290	0.447	B	0.27715	0.082	T	0.24440	-1.0160	10	0.72032	D	0.01	.	8.4648	0.32949	0.2101:0.7075:0.0:0.0824	.	594	O95256	I18RA_HUMAN	Y	594;452	ENSP00000264260:S594Y;ENSP00000387201:S452Y	ENSP00000264260:S594Y	S	+	2	0	IL18RAP	102435054	0.000000	0.05858	1.000000	0.80357	0.925000	0.55904	0.198000	0.17217	2.801000	0.96364	0.650000	0.86243	TCC	-	NULL		0.512	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	protein_coding	OTTHUMT00000253291.2	C	NM_003853	-		103068622	1	no_errors	ENST00000264260	ensembl	human	known	74_37	missense	SNP	0.273	A	A	103068622	C	A	103068622	3	1	92	1	0	0	0	0	1	0	0	0	7650	855	30	3	1819	3	IL18RAP	2	103068622	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	78093751	103068622	140130751	11	5136											
CLK1	1195	genome.wustl.edu	37	chr2	201726031	201726035	+	Frame_Shift_Del	DEL	CTACC	CTACC	-													tataactacttcttccacttCtaccagaagacttgctacta							TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	CTACC	CTACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr2:201726031_201726035delCTACC	ENST00000321356.4	-	3	451_455	c.316_320delGGTAG	c.(316-321)ggtagafs	p.GR106fs	Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000434813.2_Frame_Shift_Del_p.GR148fs	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	106					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTTCCACTTCTACCAGAAGACTTG	0.405																																																	0								ENSG00000013441																																			CLK1	SO:0001589	frameshift_variant	0				HGNC	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.316_320delGGTAG	2.37:g.201726031_201726035delCTACC	ENSP00000326830:p.Gly106fs	Somatic					0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DFW7|Q0P694|Q8N5V8	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G106fs	ENST00000321356.4	37	c.320_316	CCDS2331.1	2																																																																																			-	NULL		0.405	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	protein_coding	OTTHUMT00000256192.2	CTACC				201726035	-1	no_errors	ENST00000321356	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.999:0.997:1.000:1.000	-	-	201726035	CTACC	-	201726031	7	5	92	1	0	1	0	1	0	0	0	0	3538	913	32	0	1178	0	CLK1	2	201726031	Frame_Shift_Del	DEL	CTACC	TCGA-DX-A7ET-01A-11D-A36J-09	98657409	201726031	41473342	12	5137											
RQCD1	9125	genome.wustl.edu	37	chr2	219458967	219458967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaagagggccaggtcaccGatccccggggtatccccctg	13	15	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr2:219458967G>A	ENST00000273064.6	+	8	1243	c.868G>A	c.(868-870)Gat>Aat	p.D290N	RQCD1_ENST00000509807.2_Missense_Mutation_p.D322N|RQCD1_ENST00000542068.1_Missense_Mutation_p.D290N	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	290					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGTCACCGATCCCCGGGG	0.577																																																	0								ENSG00000144580						67	63	64					2																	219458967		2203	4300	6503	RQCD1	SO:0001583	missense	0			-	HGNC	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.868G>A	2.37:g.219458967G>A	ENSP00000273064:p.Asp290Asn	Somatic	0	67	0		0.515229469712394	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP							pfam_Rcd1,superfamily_ARM-type_fold	p.D322N	ENST00000273064.6	37	c.964	CCDS33379.1	2	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791239	0.31685	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068	T;T;T	0.44482	0.92;1.5;0.92	5.71	4.83	0.62350	.	0.044027	0.85682	D	0.000000	T	0.25865	0.0630	N	0.20986	0.625	0.80722	D	1	P;P	0.48640	0.913;0.804	B;B	0.36378	0.223;0.06	T	0.04203	-1.0969	10	0.12103	T	0.63	-6.0835	16.1593	0.81686	0.0:0.0:0.8656:0.1344	.	322;290	B7Z1E5;Q92600	.;RCD1_HUMAN	N	290;322;290	ENSP00000273064:D290N;ENSP00000441357:D322N;ENSP00000443687:D290N	ENSP00000273064:D290N	D	+	1	0	RQCD1	219167211	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.754000	0.98908	1.404000	0.46819	0.591000	0.81541	GAT	-	NULL		0.577	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RQCD1	protein_coding	OTTHUMT00000336920.1	G	NM_005444	-		219458967	1	no_errors	ENST00000509807	ensembl	human	known	74_37	missense	SNP	1.000	A	A	219458967	G	A	219458967	3	1	92	1	0	0	0	0	1	0	0	0	13678	1058	37	1	898	1	RQCD1	2	219458967	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	17732936	219458967	23740406	13	5138											
FSTL1	11167	genome.wustl.edu	37	chr3	120122120	120122120	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttgaaagatgggttgagGcacttgagaaactcttggaa	15	4	1	4			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr3:120122120G>T	ENST00000295633.3	-	8	1019	c.663C>A	c.(661-663)tgC>tgA	p.C221*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.C186*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	221	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.			C -> S (in Ref. 4; BAF83827). {ECO:0000305}.	BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ATGGGTTGAGGCACTTGAGAA	0.443																																																	0								ENSG00000163430						109	110	110					3																	120122120		2203	4300	6503	FSTL1	SO:0001587	stop_gained	0			-	HGNC	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.663C>A	3.37:g.120122120G>T	ENSP00000295633:p.Cys221*	Somatic	0	40	0		0.515229469712394	209	0.48	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K523|B4DTT5|D3DN90|Q549Z0	Nonsense_Mutation	SNP							pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.C221*	ENST00000295633.3	37	c.663	CCDS2998.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.424183|5.424183	0.96111|0.96111	.|.	.|.	ENSG00000163430|ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703|ENST00000480823	.|.	.|.	.|.	6.16|6.16	2.49|2.49	0.30216|0.30216	.|.	0.122794|.	0.85682|.	D|.	0.000000|.	.|T	.|0.50429	.|0.1615	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56920	.|-0.7899	.|3	0.02654|.	T|.	1|.	-19.8937|-19.8937	9.6129|9.6129	0.39674|0.39674	0.2627:0.0:0.7373:0.0|0.2627:0.0:0.7373:0.0	.|.	.|.	.|.	.|.	X|T	221;164;186|9	.|.	ENSP00000295633:C221X|.	C|P	-|-	3|1	2|0	FSTL1|FSTL1	121604810|121604810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.995000|2.995000	0.49441|0.49441	0.195000|0.195000	0.20347|0.20347	-0.143000|-0.143000	0.13931|0.13931	TGC|CCT	-	pfscan_EF_hand_dom		0.443	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	protein_coding	OTTHUMT00000355399.1	G	NM_007085	-		120122120	-1	no_errors	ENST00000295633	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	120122120	G	T	120122120	4	4	92	1	0	0	0	0	0	1	0	0	6079	1195	42	3	279	3	FSTL1	3	120122120	Nonsense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09		120122120	77900310	14	5139											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125855695	125855695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagctggtggggcatgCggacagtgcgcttgttcact	16	8	1	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr3:125855695C>T	ENST00000393434.2	-	11	1605	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R419H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R318H|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R429H|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.R419H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	419	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTGGGGCATGCGGACAGTGCG	0.577																																																	0								ENSG00000144908						97	83	88					3																	125855695		2203	4300	6503	ALDH1L1	SO:0001583	missense	0			-	HGNC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1256G>A	3.37:g.125855695C>T	ENSP00000377083:p.Arg419His	Somatic	0	36	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.R419H	ENST00000393434.2	37	c.1256	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.022104	0.07634	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.21	3.67	-7.34	0.01427	Acyl carrier protein-like (1);Aldehyde/histidinol dehydrogenase (1);	1.411540	0.04478	N	0.377306	T	0.07234	0.0183	L	0.28400	0.85	0.09310	N	1	B;B;B	0.15719	0.014;0.009;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.26155	-1.0111	10	0.44086	T	0.13	.	13.8719	0.63624	0.0:0.2998:0.0:0.7002	.	318;471;419	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	H	429;419;318;419;419	ENSP00000273450:R429H;ENSP00000420293:R419H;ENSP00000395881:R318H;ENSP00000377083:R419H;ENSP00000377081:R419H	ENSP00000273450:R429H	R	-	2	0	ALDH1L1	127338385	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.418000	0.02462	-1.781000	0.01277	-0.483000	0.04790	CGC	-	superfamily_Ald_DH/histidinol_DH,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH		0.577	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	protein_coding	OTTHUMT00000354391.1	C	NM_012190	-		125855695	-1	no_errors	ENST00000393434	ensembl	human	known	74_37	missense	SNP	0.001	T	T	125855695	C	T	125855695	3	4	92	1	0	0	0	0	1	0	0	0	494	768	27	1	1504	1	ALDH1L1	3	125855695	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	5733575	125855695	72166735	15	5140											
ATP13A5	344905	genome.wustl.edu	37	chr3	193028437	193028437	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgacacctactttaatttctGaaattcttcaataaggcttg	5	8	3	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr3:193028437G>C	ENST00000342358.4	-	21	2632	c.2515C>G	c.(2515-2517)Cag>Gag	p.Q839E	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	839						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)		TTTAATTTCTGAAATTCTTCA	0.363																																																	0								ENSG00000187527						117	106	110					3																	193028437		2203	4300	6503	ATP13A5	SO:0001583	missense	0			-	HGNC	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.2515C>G	3.37:g.193028437G>C	ENSP00000341942:p.Gln839Glu	Somatic	0	46	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.Q839E	ENST00000342358.4	37	c.2515	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994461	0.74703	.	.	ENSG00000187527	ENST00000342358	T	0.58358	0.34	5.78	5.78	0.91487	HAD-like domain (2);	0.000000	0.64402	D	0.000001	T	0.77498	0.4139	M	0.89534	3.04	0.43729	D	0.996215	D	0.60575	0.988	D	0.65573	0.936	T	0.81145	-0.1066	10	0.72032	D	0.01	-12.3617	17.8559	0.88762	0.0:0.0:1.0:0.0	.	839	Q4VNC0	AT135_HUMAN	E	839	ENSP00000341942:Q839E	ENSP00000341942:Q839E	Q	-	1	0	ATP13A5	194511131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	2.894000	0.99253	0.655000	0.94253	CAG	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.363	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	protein_coding	OTTHUMT00000343012.1	G	NM_198505	-		193028437	-1	no_errors	ENST00000342358	ensembl	human	known	74_37	missense	SNP	1.000	C	C	193028437	G	C	193028437	3	2	92	1	0	0	0	0	1	0	0	0	1127	1299	45	4	1179	4	ATP13A5	3	193028437	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	67172742	193028437	4993993	16	5141											
N4BP2	55728	genome.wustl.edu	37	chr4	40123372	40123372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcactcctgaaaaccAtgaatcgatgacaagtatat	7	9	1	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr4:40123372A>G	ENST00000261435.6	+	9	4057	c.3641A>G	c.(3640-3642)cAt>cGt	p.H1214R		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1214					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCTGAAAACCATGAATCGATG	0.418																																																	0								ENSG00000078177						74	73	74					4																	40123372		2203	4300	6503	N4BP2	SO:0001583	missense	0			-	HGNC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3641A>G	4.37:g.40123372A>G	ENSP00000261435:p.His1214Arg	Somatic	0	38	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP							pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.H1214R	ENST00000261435.6	37	c.3641	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	A	1.930	-0.446146	0.04604	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.16597	2.33	5.6	1.83	0.25207	.	1.176710	0.06286	N	0.698344	T	0.13114	0.0318	N	0.22421	0.69	0.09310	N	1	B;B	0.22909	0.077;0.046	B;B	0.25140	0.058;0.026	T	0.38243	-0.9670	10	0.48119	T	0.1	0.1539	6.9921	0.24761	0.4512:0.4684:0.0:0.0804	.	1214;1214	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	R	1214;1134	ENSP00000261435:H1214R	ENSP00000261435:H1214R	H	+	2	0	N4BP2	39799767	0.946000	0.32159	0.000000	0.03702	0.032000	0.12392	0.804000	0.27098	0.029000	0.15352	-0.286000	0.09958	CAT	-	NULL		0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	protein_coding	OTTHUMT00000250458.2	A	NM_018177	-		40123372	1	no_errors	ENST00000261435	ensembl	human	known	74_37	missense	SNP	0.001	G	G	40123372	A	G	40123372	3	3	92	1	0	0	0	0	1	0	0	0	10112	217	8	5	3667	5	N4BP2	4	40123372	Missense_Mutation	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09		40123372	151030904	17	5142											
HIST1H4C	8364	genome.wustl.edu	37	chr6	26104193	26104193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtctggtcgcggcaaAggcggaaaaggcttggggaa	16	7	2	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr6:26104193A>G	ENST00000377803.2	+	1	90	c.18A>G	c.(16-18)aaA>aaG	p.K6K		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	6					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GTCGCGGCAAAGGCGGAAAAG	0.498																																																	0								ENSG00000197061						53	55	54					6																	26104193		2203	4300	6503	HIST1H4C	SO:0001819	synonymous_variant	0			-	HGNC	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.18A>G	6.37:g.26104193A>G		Somatic	0	29	0		0.515229469712394	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	45.83	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP							pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.K6	ENST00000377803.2	37	c.18	CCDS4583.1	6																																																																																			-	superfamily_Histone-fold,prints_Histone_H4		0.498	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	protein_coding	OTTHUMT00000040092.2	A	NM_003542	-		26104193	1	no_errors	ENST00000377803	ensembl	human	known	74_37	silent	SNP	0.254	G	G	26104193	A	G	26104193	2	3	92	1	0	0	0	0	0	0	0	1	7169	69	3	5		5	HIST1H4C	6	26104193	Silent	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09		26104193	145010874	18	5143											
HSPA1B	3304	genome.wustl.edu	37	chr6	31797299	31797299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtgcaggaggcggagaaGtacaaagcggaggacgaggt	19	5	0	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr6:31797299G>T	ENST00000375650.3	+	1	1788	c.1572G>T	c.(1570-1572)aaG>aaT	p.K524N	HSPA1B_ENST00000545241.1_Missense_Mutation_p.K433N	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	524					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						AGGCGGAGAAGTACAAAGCGG	0.617																																																	0								ENSG00000204388						10	7	8					6																	31797299		1588	3164	4752	HSPA1B	SO:0001583	missense	0			-	HGNC		CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1572G>T	6.37:g.31797299G>T	ENSP00000364801:p.Lys524Asn	Somatic	0	46	0		0.515229469712394	80	25.93	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K524N	ENST00000375650.3	37	c.1572	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285485	0.23478	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.05855	3.38;3.38	4.2	2.28	0.28536	.	0.000000	0.40064	N	0.001186	T	0.05227	0.0139	.	.	.	0.48288	D	0.999622	.	.	.	.	.	.	T	0.17561	-1.0365	7	0.72032	D	0.01	-19.9116	4.772	0.13160	0.2063:0.2056:0.5881:0.0	.	.	.	.	N	591;524;507;433	ENSP00000364801:K524N;ENSP00000442789:K433N	ENSP00000364801:K524N	K	+	3	2	HSPA1B	31905278	0.065000	0.20965	0.994000	0.49952	0.980000	0.70556	-0.066000	0.11598	0.823000	0.34589	0.467000	0.42956	AAG	-	pfam_Hsp_70_fam		0.617	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	protein_coding	OTTHUMT00000076402.2	G		-		31797299	1	no_errors	ENST00000375650	ensembl	human	known	74_37	missense	SNP	0.991	T	T	31797299	G	T	31797299	3	4	92	1	0	0	0	0	1	0	0	0	7411	1020	36	3	1574	3	HSPA1B	6	31797299	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	5693106	31797299	139317768	19	5144											
PPIL6	285755	genome.wustl.edu	37	chr6	109714072	109714072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaattctacacatatgtAttggtctttcattctgtgtt	6	7	4	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr6:109714072A>G	ENST00000521072.2	-	8	1473	c.893T>C	c.(892-894)aTa>aCa	p.I298T	PPIL6_ENST00000440797.2_Missense_Mutation_p.I324T|PPIL6_ENST00000424445.2_Missense_Mutation_p.I266T	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	298	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ACACATATGTATTGGTCTTTC	0.318																																																	0								ENSG00000185250						225	204	211					6																	109714072		2203	4300	6503	PPIL6	SO:0001583	missense	0			-	HGNC		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.893T>C	6.37:g.109714072A>G	ENSP00000427929:p.Ile298Thr	Somatic	0	39	0		0.515229469712394	27	41.3	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.I298T	ENST00000521072.2	37	c.893	CCDS5074.1	6	.	.	.	.	.	.	.	.	.	.	A	5.536	0.283757	0.10458	.	.	ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072	T;T;T	0.41758	0.99;0.99;0.99	5.39	0.0629	0.14346	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.800802	0.11154	N	0.593822	T	0.04182	0.0116	N	0.02985	-0.445	0.09310	N	1	B;B;B	0.12013	0.003;0.003;0.005	B;B;B	0.12156	0.007;0.007;0.007	T	0.42172	-0.9467	10	0.13108	T	0.6	-1.0202	3.422	0.07397	0.504:0.0:0.2207:0.2754	.	324;266;298	A9NIU9;E7EX15;Q8IXY8	.;.;PPIL6_HUMAN	T	266;324;298	ENSP00000407731:I266T;ENSP00000392257:I324T;ENSP00000427929:I298T	ENSP00000407731:I266T	I	-	2	0	PPIL6	109820765	0.002000	0.14202	0.001000	0.08648	0.085000	0.17905	0.709000	0.25734	-0.134000	0.11516	-0.516000	0.04426	ATA	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.318	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	protein_coding	OTTHUMT00000089003.4	A		-		109714072	-1	no_errors	ENST00000521072	ensembl	human	known	74_37	missense	SNP	0.001	G	G	109714072	A	G	109714072	3	3	92	1	0	0	0	0	1	0	0	0	12336	449	16	5	46	5	PPIL6	6	109714072	Missense_Mutation	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09	77916773	109714072	61400995	20	5145											
FIG4	9896	genome.wustl.edu	37	chr6	110059609	110059609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataattaaaagtactgtgcAtcgtgactggcttttgtata	8	5	0	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr6:110059609A>G	ENST00000230124.3	+	7	852	c.728A>G	c.(727-729)cAt>cGt	p.H243R	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	243	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGTACTGTGCATCGTGACTGG	0.338																																																	0								ENSG00000112367						155	156	156					6																	110059609		2203	4299	6502	FIG4	SO:0001583	missense	0			-	HGNC	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.728A>G	6.37:g.110059609A>G	ENSP00000230124:p.His243Arg	Somatic	0	54	0		0.515229469712394	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	57	20.83	Q53H49|Q5TCS6	Missense_Mutation	SNP							pfam_Syja_N,pfscan_Syja_N	p.H243R	ENST00000230124.3	37	c.728	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797930	0.50208	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.56611	0.45;0.45	5.67	4.52	0.55395	Synaptojanin, N-terminal (2);	0.110613	0.64402	D	0.000009	T	0.40522	0.1120	L	0.42245	1.32	0.80722	D	1	P	0.51057	0.941	P	0.55577	0.779	T	0.27938	-1.0059	10	0.15952	T	0.53	-8.829	11.3622	0.49651	0.9294:0.0:0.0706:0.0	.	243	Q92562	FIG4_HUMAN	R	243;222	ENSP00000230124:H243R;ENSP00000412156:H222R	ENSP00000230124:H243R	H	+	2	0	FIG4	110166302	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.167000	0.77562	0.987000	0.38709	0.533000	0.62120	CAT	-	pfam_Syja_N,pfscan_Syja_N		0.338	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	protein_coding	OTTHUMT00000041768.1	A	NM_014845	-		110059609	1	no_errors	ENST00000230124	ensembl	human	known	74_37	missense	SNP	1.000	G	G	110059609	A	G	110059609	3	3	92	1	0	0	0	0	1	0	0	0	5890	217	8	5	754	5	FIG4	6	110059609	Missense_Mutation	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09	345537	110059609	61055458	21	5146											
LAMA2	3908	genome.wustl.edu	37	chr6	129826487	129826487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccatcaactacactacccGaagaattggtccagtaaata	5	12	1	1	rs201696115		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr6:129826487G>A	ENST00000421865.2	+	61	8739	c.8690G>A	c.(8689-8691)cGa>cAa	p.R2897Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2897	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)		TACACTACCCGAAGAATTGGT	0.403																																																	0								ENSG00000196569						82	83	83					6																	129826487		2203	4300	6503	LAMA2	SO:0001583	missense	0			-	HGNC	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.8690G>A	6.37:g.129826487G>A	ENSP00000400365:p.Arg2897Gln	Somatic	0	71	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	54	21.74	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2897Q	ENST00000421865.2	37	c.8690	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220377	0.79464	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75821	-0.97	5.78	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.102971	0.64402	D	0.000002	T	0.46483	0.1395	L	0.40543	1.245	0.40440	D	0.980034	D;D	0.53312	0.959;0.959	B;B	0.37692	0.256;0.256	T	0.51442	-0.8705	9	.	.	.	.	9.1664	0.37054	0.2165:0.0:0.7835:0.0	.	2898;2897	A6NF00;P24043	.;LAMA2_HUMAN	Q	2897;2896;2897;915	ENSP00000400365:R2897Q	.	R	+	2	0	LAMA2	129868180	0.998000	0.40836	0.759000	0.31340	0.997000	0.91878	2.929000	0.48916	1.448000	0.47680	0.655000	0.94253	CGA	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	G		rs201696115		129826487	1	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	SNP	0.985	A	A	129826487	G	A	129826487	3	1	92	1	0	0	0	0	1	0	0	0	8608	1058	37	1	8932	1	LAMA2	6	129826487	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	19766878	129826487	41288580	22	5147											
CCDC129	223075	genome.wustl.edu	37	chr7	31683399	31683399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctatacctgcccactgCtgcatctgctgtcatcacca	6	16	3	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr7:31683399C>T	ENST00000407970.3	+	11	2453	c.2415C>T	c.(2413-2415)tgC>tgT	p.C805C	CCDC129_ENST00000451887.2_Silent_p.C831C|CCDC129_ENST00000409210.1_Silent_p.C713C|CCDC129_ENST00000319386.3_Silent_p.C657C	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	805	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGCCCACTGCTGCATCTGCT	0.582																																																	0								ENSG00000180347						89	78	82					7																	31683399		2203	4300	6503	CCDC129	SO:0001819	synonymous_variant	0			-	HGNC	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2415C>T	7.37:g.31683399C>T		Somatic	0	28	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP							NULL	p.C831	ENST00000407970.3	37	c.2493	CCDS5435.2	7																																																																																			-	NULL		0.582	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	protein_coding	OTTHUMT00000318975.1	C	NM_194300	-		31683399	1	no_errors	ENST00000451887	ensembl	human	known	74_37	silent	SNP	0.033	T	T	31683399	C	T	31683399	2	4	92	1	0	0	0	0	0	0	0	1	2766	805	28	2		2	CCDC129	7	31683399	Silent	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09		31683399	127455264	23	5148											
KCND2	3751	genome.wustl.edu	37	chr7	119915492	119915492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtatcatcgacgtggtggCcatcctgccttattacattg	10	10	1	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr7:119915492C>T	ENST00000331113.4	+	1	1771	c.806C>T	c.(805-807)gCc>gTc	p.A269V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	269					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GACGTGGTGGCCATCCTGCCT	0.512																																																	0								ENSG00000184408						173	144	154					7																	119915492		2203	4300	6503	KCND2	SO:0001583	missense	0			-	HGNC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.806C>T	7.37:g.119915492C>T	ENSP00000333496:p.Ala269Val	Somatic	0	46	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.A269V	ENST00000331113.4	37	c.806	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830433	0.91036	.	.	ENSG00000184408	ENST00000331113	D	0.98150	-4.75	5.27	5.27	0.74061	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.74647	2.275	0.80722	D	1	D	0.61080	0.989	D	0.70016	0.967	D	0.98755	1.0722	9	.	.	.	.	19.2668	0.93990	0.0:1.0:0.0:0.0	.	269	Q9NZV8	KCND2_HUMAN	V	269	ENSP00000333496:A269V	.	A	+	2	0	KCND2	119702728	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.636000	0.89361	0.557000	0.71058	GCC	-	pfam_Ion_trans_dom,prints_K_chnl		0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	C	NM_012281	-		119915492	1	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119915492	C	T	119915492	3	4	92	1	0	0	0	0	1	0	0	0	8021	739	26	2	808	2	KCND2	7	119915492	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	88232093	119915492	39223171	24	5149											
RALYL	138046	genome.wustl.edu	37	chr8	85686863	85686863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagaccaaaacctggaaaCaagaggcccctttctgcact	7	13	1	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr8:85686863C>A	ENST00000521268.1	+	3	1411	c.306C>A	c.(304-306)aaC>aaA	p.N102K	RALYL_ENST00000521376.1_Missense_Mutation_p.N29K|RALYL_ENST00000521695.1_Missense_Mutation_p.N102K|RALYL_ENST00000522455.1_Missense_Mutation_p.N102K|RALYL_ENST00000517638.1_Missense_Mutation_p.N115K|RALYL_ENST00000523850.1_Missense_Mutation_p.N29K|RALYL_ENST00000518566.1_Missense_Mutation_p.N102K	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	102							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AACCTGGAAACAAGAGGCCCC	0.358																																																	0								ENSG00000184672						63	63	63					8																	85686863		1830	4095	5925	RALYL	SO:0001583	missense	0			-	HGNC		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.306C>A	8.37:g.85686863C>A	ENSP00000430367:p.Asn102Lys	Somatic	0	88	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.N102K	ENST00000521268.1	37	c.306	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658367	0.47467	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.16457	2.98;2.98;2.98;2.95;2.96;2.6;2.34	5.78	2.95	0.34219	Nucleotide-binding, alpha-beta plait (1);	0.425662	0.27031	N	0.021273	T	0.07773	0.0195	N	0.08118	0	0.24736	N	0.993064	B;B;B;B;B	0.32467	0.002;0.354;0.372;0.051;0.354	B;B;B;B;B	0.30943	0.005;0.09;0.114;0.122;0.09	T	0.27297	-1.0078	10	0.35671	T	0.21	-11.917	7.7059	0.28650	0.0:0.7268:0.0:0.2732	.	102;102;29;115;102	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	K	102;102;102;102;115;29;29	ENSP00000430394:N102K;ENSP00000428667:N102K;ENSP00000430367:N102K;ENSP00000430065:N102K;ENSP00000430128:N115K;ENSP00000428807:N29K;ENSP00000428310:N29K	ENSP00000430128:N115K	N	+	3	2	RALYL	85849418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.797000	0.26999	0.325000	0.23359	0.655000	0.94253	AAC	-	pirsf_hnRNP_C_Raly		0.358	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	protein_coding	OTTHUMT00000379448.1	C		-		85686863	1	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85686863	C	A	85686863	3	1	92	1	0	0	0	0	1	0	0	0	13028	477	17	3	355	3	RALYL	8	85686863	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09		85686863	60677159	25	5150											
RECQL4	113655	genome.wustl.edu	37	chr8	145739006	145739006	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttcggaggagcgcagCgatccgctctgtgtcctcgc	15	13	1	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr8:145739006C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.A717T|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGAGCGCAGCGATCCGCTCT	0.602																																																	0								ENSG00000160957						29	33	32					8																	145739006		2085	4217	6302	RECQL4	SO:0001628	intergenic_variant	0			-	HGNC		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739006C>T		Somatic	0	38	0		0.515229469712394	31	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76		Missense_Mutation	SNP							pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.A717T	ENST00000301327.4	37	c.2149	CCDS6431.1	8																																																																																			-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.602	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	protein_coding	OTTHUMT00000382478.2	C	NM_138431	-		145739006	-1	no_errors	ENST00000428558	ensembl	human	known	74_37	missense	SNP	0.987	T	T	145739006	C	T	145739006	1	4	92	0	1	0	0	0	0	0	0	0	13210	768	27	1		1	RECQL4	8	145739006	IGR	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	60052143	145739006	625016	26	5151											
CEP78	84131	genome.wustl.edu	37	chr9	80879143	80879143	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcacagtcattgacaaaTatgatcctggatgatgaagg	10	7	1	4			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr9:80879143T>C	ENST00000424347.2	+	13	1825	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N	CEP78_ENST00000376597.4_Silent_p.N513N|CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000415759.2_Silent_p.N513N|CEP78_ENST00000376598.2_Silent_p.N512N|CEP78_ENST00000277082.5_Silent_p.N512N			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	512					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CATTGACAAATATGATCCTGG	0.358																																																	0								ENSG00000148019						105	98	100					9																	80879143		1846	4089	5935	CEP78	SO:0001819	synonymous_variant	0			-	HGNC	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1536T>C	9.37:g.80879143T>C		Somatic	0	71	0		0.515229469712394	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	40	39.39	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.N513	ENST00000424347.2	37	c.1539		9																																																																																			-	NULL		0.358	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	protein_coding	OTTHUMT00000052766.2	T	XM_095991	-		80879143	1	no_errors	ENST00000376597	ensembl	human	known	74_37	silent	SNP	0.948	C	C	80879143	T	C	80879143	2	2	92	1	0	0	0	0	0	0	0	1	3264	1403	49	5		5	CEP78	9	80879143	Silent	SNP	T	TCGA-DX-A7ET-01A-11D-A36J-09		80879143	60334288	27	5152											
TDRD7	23424	genome.wustl.edu	37	chr9	100240849	100240849	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaaatgattgcaataccAcctcaggtactatgttacca	6	10	1	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr9:100240849A>G	ENST00000355295.4	+	13	2590	c.2295A>G	c.(2293-2295)ccA>ccG	p.P765P	TDRD7_ENST00000422139.2_Silent_p.P691P|TDRD7_ENST00000540902.1_Silent_p.P85P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	765					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTGCAATACCACCTCAGGTAC	0.413																																																	0								ENSG00000196116						98	95	96					9																	100240849		2203	4300	6503	TDRD7	SO:0001819	synonymous_variant	0			-	HGNC	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2295A>G	9.37:g.100240849A>G		Somatic	0	74	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	69	18.60	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP							pfam_Tudor,smart_Tudor,pfscan_Tudor	p.P765	ENST00000355295.4	37	c.2295	CCDS6725.1	9																																																																																			-	pfam_Tudor		0.413	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	protein_coding	OTTHUMT00000053322.1	A	NM_014290	-		100240849	1	no_errors	ENST00000355295	ensembl	human	known	74_37	silent	SNP	1.000	G	G	100240849	A	G	100240849	2	3	92	1	0	0	0	0	0	0	0	1	15742	146	6	5		5	TDRD7	9	100240849	Silent	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09	19361706	100240849	40972582	28	5153											
SARDH	1757	genome.wustl.edu	37	chr9	136535785	136535785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccctccccaggaaggGcaccggcgacttgagcttgc	13	16	0	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr9:136535785G>A	ENST00000371872.4	-	19	2673	c.2416C>T	c.(2416-2418)Ccc>Tcc	p.P806S	SARDH_ENST00000371868.1_Missense_Mutation_p.P234S|SARDH_ENST00000422262.2_Missense_Mutation_p.P638S|SARDH_ENST00000439388.1_Missense_Mutation_p.P806S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	806					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCAGGAAGGGCACCGGCGAC	0.701																																																	0								ENSG00000123453						13	13	13					9																	136535785		2175	4273	6448	SARDH	SO:0001583	missense	0			-	HGNC		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2416C>T	9.37:g.136535785G>A	ENSP00000360938:p.Pro806Ser	Somatic	0	76	0		0.515229469712394	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.P806S	ENST00000371872.4	37	c.2416	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266732	0.59540	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.01	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	L	0.52206	1.635	0.80722	D	1	P;P	0.43750	0.814;0.816	P;P	0.52343	0.696;0.688	D	0.86070	0.1537	10	0.56958	D	0.05	-23.641	15.5165	0.75828	0.0:0.1386:0.8614:0.0	.	806;234	Q9UL12;Q5SYV2	SARDH_HUMAN;.	S	806;234;806;638	ENSP00000360938:P806S;ENSP00000360934:P234S;ENSP00000403084:P806S;ENSP00000415537:P638S	ENSP00000360934:P234S	P	-	1	0	SARDH	135525606	1.000000	0.71417	0.959000	0.39883	0.246000	0.25737	7.494000	0.81503	1.084000	0.41184	0.585000	0.79938	CCC	-	NULL		0.701	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	protein_coding	OTTHUMT00000054931.1	G		-		136535785	-1	no_errors	ENST00000371872	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136535785	G	A	136535785	3	1	92	1	0	0	0	0	1	0	0	0	13849	1203	42	2	352	2	SARDH	9	136535785	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	36294936	136535785	4677646	29	5154											
PLCE1	51196	genome.wustl.edu	37	chr10	95995711	95995711	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagataatttcttacaaCgagtgggacaaaatggctta	9	6	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr10:95995711C>T	ENST00000371380.3	+	6	2489	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.R444*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.R444*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.R752*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	752	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)				TTTCTTACAACGAGTGGGACA	0.408																																																	0								ENSG00000138193						100	96	97					10																	95995711		1853	4110	5963	PLCE1	SO:0001587	stop_gained	0			-	HGNC		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.2254C>T	10.37:g.95995711C>T	ENSP00000360431:p.Arg752*	Somatic	0	50	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R752*	ENST00000371380.3	37	c.2254	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	46	12.416272	0.99665	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	.	.	.	X	752;752;444;444	.	ENSP00000260766:R752X	R	+	1	2	PLCE1	95985701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.350000	0.52224	2.521000	0.84997	0.655000	0.94253	CGA	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	C	NM_016341	-		95995711	1	no_errors	ENST00000260766	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	95995711	C	T	95995711	4	4	92	1	0	0	0	0	0	1	0	0	12036	528	19	1	2562	1	PLCE1	10	95995711	Nonsense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09		95995711	39539036	30	5155											
NELL1	4745	genome.wustl.edu	37	chr11	20699519	20699519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccttcagatggatatcGtcaccgagcttgaccttgtg	10	11	2	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr11:20699519G>A	ENST00000357134.5	+	2	249	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	NELL1_ENST00000298925.5_Missense_Mutation_p.V61I|NELL1_ENST00000532434.1_Missense_Mutation_p.V33I|NELL1_ENST00000325319.5_Missense_Mutation_p.V33I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	33					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						GATGGATATCGTCACCGAGCT	0.473																																																	0								ENSG00000165973						179	163	168					11																	20699519		2203	4300	6503	NELL1	SO:0001583	missense	0			-	HGNC	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.97G>A	11.37:g.20699519G>A	ENSP00000349654:p.Val33Ile	Somatic	0	52	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.V33I	ENST00000357134.5	37	c.97	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	0.035	-1.310797	0.01342	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.01933	4.55;4.55;4.55;4.55	6.11	1.11	0.20524	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.138090	0.46758	N	0.000266	T	0.00580	0.0019	N	0.00197	-1.87	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.46610	-0.9179	10	0.11794	T	0.64	-7.2337	6.934	0.24457	0.6621:0.1117:0.2262:0.0	.	33;61;33;33	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	I	61;33;33;33	ENSP00000298925:V61I;ENSP00000349654:V33I;ENSP00000317837:V33I;ENSP00000437170:V33I	ENSP00000298925:V61I	V	+	1	0	NELL1	20656095	0.910000	0.30920	0.004000	0.12327	0.274000	0.26718	1.521000	0.35910	-0.296000	0.08947	-2.261000	0.00279	GTC	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.473	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	protein_coding	OTTHUMT00000387588.1	G	NM_006157	-		20699519	1	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	SNP	0.660	A	A	20699519	G	A	20699519	3	1	92	1	0	0	0	0	1	0	0	0	10335	1145	40	1	103	1	NELL1	11	20699519	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09		20699519	114306997	31	5156											
ABTB2	25841	genome.wustl.edu	37	chr11	34181876	34181876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgggtgaagatggtagCcagttgctggatgacggagt	18	5	0	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr11:34181876C>T	ENST00000435224.2	-	12	2846	c.2422G>A	c.(2422-2424)Gct>Act	p.A808T	ABTB2_ENST00000298992.2_Missense_Mutation_p.A622T	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	808					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AAGATGGTAGCCAGTTGCTGG	0.622																																																	0								ENSG00000166016						90	90	90					11																	34181876		2202	4298	6500	ABTB2	SO:0001583	missense	0			-	HGNC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2422G>A	11.37:g.34181876C>T	ENSP00000410157:p.Ala808Thr	Somatic	0	45	0		0.515229469712394	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.A808T	ENST00000435224.2	37	c.2422	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536807	0.65085	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.62639	0.02;0.01	5.09	5.09	0.68999	.	0.055992	0.64402	D	0.000001	T	0.66157	0.2761	M	0.76574	2.34	0.58432	D	0.999998	P	0.44139	0.827	B	0.40901	0.343	T	0.73773	-0.3877	10	0.72032	D	0.01	-9.3397	18.0892	0.89469	0.0:1.0:0.0:0.0	.	622	Q8N961	ABTB2_HUMAN	T	808;622	ENSP00000410157:A808T;ENSP00000298992:A622T	ENSP00000298992:A622T	A	-	1	0	ABTB2	34138452	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	2.381000	0.44336	2.370000	0.80446	0.561000	0.74099	GCT	-	NULL		0.622	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	protein_coding	OTTHUMT00000388703.3	C	NM_145804	-		34181876	-1	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34181876	C	T	34181876	3	4	92	1	0	0	0	0	1	0	0	0	103	739	26	2	679	2	ABTB2	11	34181876	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	13482357	34181876	100824640	32	5157											
PHLDB1	23187	genome.wustl.edu	37	chr11	118498020	118498020	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctttgcatttccctccaGcagaatcagaaagtctggta	8	11	2	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr11:118498020G>T	ENST00000361417.2	+	7	892		c.e7-1		PHLDB1_ENST00000356063.5_Splice_Site	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTTCCCTCCAGCAGAATCAGA	0.532																																																	0								ENSG00000019144						54	53	53					11																	118498020		2200	4295	6495	PHLDB1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.482-1G>T	11.37:g.118498020G>T		Somatic	0	85	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Splice_Site	SNP							-	e5-1	ENST00000361417.2	37	c.482-1	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	G	0.514	-0.865014	0.02590	.	.	ENSG00000019144	ENST00000361417;ENST00000545313;ENST00000356063	.	.	.	5.82	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.23893	N	0.996545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9625	0.53017	0.0807:0.0:0.9193:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHLDB1	118003230	0.403000	0.25319	0.078000	0.20375	0.050000	0.14768	0.837000	0.27558	1.466000	0.48025	0.563000	0.77884	.	-	-		0.532	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	G	NM_015157	-	Intron	118498020	1	no_errors	ENST00000361417	ensembl	human	known	74_37	splice_site	SNP	0.174	T	T	118498020	G	T	118498020	5	4	92	1	0	0	0	0	0	0	1	0	11853	985	34	3	499	3	PHLDB1	11	118498020	Splice_Site	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	84316144	118498020	16508496	33	5158											
ROBO3	64221	genome.wustl.edu	37	chr11	124738935	124738935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatcgtgcacgggcgccGcgcgcggccggacgaaggtg	19	14	0	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr11:124738935G>A	ENST00000397801.1	+	2	590	c.398G>A	c.(397-399)cGc>cAc	p.R133H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R111H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	133	Ig-like C2-type 1.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACGGGCGCCGCGCGCGGCCG	0.701																																																	0								ENSG00000154134						10	12	12					11																	124738935		1909	4097	6006	ROBO3	SO:0001583	missense	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.398G>A	11.37:g.124738935G>A	ENSP00000380903:p.Arg133His	Somatic	0	36	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00		Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R133H	ENST00000397801.1	37	c.398	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.301445	0.95601	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.65178	-0.14;-0.13	5.03	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.177399	0.27406	N	0.019506	T	0.67287	0.2877	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69194	-0.5209	10	0.56958	D	0.05	.	12.8358	0.57771	0.0801:0.0:0.9199:0.0	.	133	Q96MS0	ROBO3_HUMAN	H	133;111	ENSP00000380903:R133H;ENSP00000441797:R111H	ENSP00000380903:R133H	R	+	2	0	ROBO3	124244145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.627000	0.67784	1.124000	0.41980	0.462000	0.41574	CGC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.701	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	G	XM_370663	-		124738935	1	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124738935	G	A	124738935	3	1	92	1	0	0	0	0	1	0	0	0	13523	1087	38	1	404	1	ROBO3	11	124738935	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	6240915	124738935	10267581	34	5159											
SLC6A12	6539	genome.wustl.edu	37	chr12	306033	306033	+	Frame_Shift_Del	DEL	A	A	-													cagccttggggaaggcgatgAaggccagcccaggacctgcc							TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr12:306033delA	ENST00000428720.1	-	11	1834	c.1091delT	c.(1090-1092)ttcfs	p.F364fs	SLC6A12_ENST00000397296.2_Frame_Shift_Del_p.F364fs|SLC6A12_ENST00000536824.1_Frame_Shift_Del_p.F364fs|SLC6A12_ENST00000424061.2_Frame_Shift_Del_p.F364fs|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000359674.4_Frame_Shift_Del_p.F364fs|RP11-283I3.1_ENST00000544067.1_RNA	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	364					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GAAGGCGATGAAGGCCAGCCC	0.577																																																	0								ENSG00000111181						91	83	86					12																	306033		2203	4300	6503	SLC6A12	SO:0001589	frameshift_variant	0				HGNC	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1091delT	12.37:g.306033delA	ENSP00000388184:p.Phe364fs	Somatic	0	48	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A0AV52|B2R992|D3DUN8	Frame_Shift_Del	DEL							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.F364fs	ENST00000428720.1	37	c.1091	CCDS8501.1	12																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.577	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	protein_coding	OTTHUMT00000206671.2	A	NM_003044			306033	-1	no_errors	ENST00000359674	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	306033	A	-	306033	7	5	92	1	0	1	0	1	0	0	0	0	14683	246	9	0	777	0	SLC6A12	12	306033	Frame_Shift_Del	DEL	A	TCGA-DX-A7ET-01A-11D-A36J-09		306033	133545862	35	5160											
OR4M1	441670	genome.wustl.edu	37	chr14	20249201	20249201	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aataccaacagggccatgtcCacctgctattcccacattac	5	15	0	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr14:20249201C>G	ENST00000315957.4	+	1	801	c.720C>G	c.(718-720)tcC>tcG	p.S240S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGCCATGTCCACCTGCTATT	0.458																																																	0								ENSG00000176299						270	236	247					14																	20249201		2203	4300	6503	OR4M1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.720C>G	14.37:g.20249201C>G		Somatic	0	202	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	163	14.21	B9EH18|Q6IFA3	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S240	ENST00000315957.4	37	c.720	CCDS32021.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	protein_coding	OTTHUMT00000409770.1	C		-		20249201	1	no_errors	ENST00000315957	ensembl	human	known	74_37	silent	SNP	0.994	G	G	20249201	C	G	20249201	2	3	92	1	0	0	0	0	0	0	0	1	11077	581	21	4		4	OR4M1	14	20249201	Silent	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09		20249201	87100339	36	5161											
RNASE2	6036	genome.wustl.edu	37	chr14	21424364	21424364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacaacagagatcaacgacGagaccctccacagtatccgg	9	13	1	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr14:21424364G>A	ENST00000304625.2	+	2	524	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	145					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GATCAACGACGAGACCCTCCA	0.468																																																	0								ENSG00000169385						125	123	124					14																	21424364		2203	4300	6503	RNASE2	SO:0001583	missense	0			-	HGNC	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.434G>A	14.37:g.21424364G>A	ENSP00000303276:p.Arg145Gln	Somatic	0	77	0		0.515229469712394	123	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	53	50.47	Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.R145Q	ENST00000304625.2	37	c.434	CCDS9561.1	14	.	.	.	.	.	.	.	.	.	.	g	1.685	-0.505460	0.04261	.	.	ENSG00000169385	ENST00000304625	T	0.13538	2.58	2.88	-4.08	0.03963	Ribonuclease A, domain (4);	.	.	.	.	T	0.06917	0.0176	L	0.32530	0.975	0.09310	N	1	P	0.36874	0.572	B	0.28991	0.097	T	0.36817	-0.9732	9	0.10377	T	0.69	.	9.2925	0.37795	0.6961:0.0:0.3039:0.0	.	145	P10153	RNAS2_HUMAN	Q	145	ENSP00000303276:R145Q	ENSP00000303276:R145Q	R	+	2	0	RNASE2	20494204	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.672000	0.00843	-1.128000	0.02922	-1.280000	0.01385	CGA	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.468	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE2	protein_coding	OTTHUMT00000073799.2	G		-		21424364	1	no_errors	ENST00000304625	ensembl	human	known	74_37	missense	SNP	0.000	A	A	21424364	G	A	21424364	3	1	92	1	0	0	0	0	1	0	0	0	13412	1058	37	1	436	1	RNASE2	14	21424364	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	1175163	21424364	85925176	37	5162											
C14orf39	317761	genome.wustl.edu	37	chr14	60945104	60945104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaacatcacatgttggcttCcagctatagaaaaaaatata	5	7	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr14:60945104C>T	ENST00000321731.3	-	5	396	c.237G>A	c.(235-237)tgG>tgA	p.W79*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	79					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGTTGGCTTCCAGCTATAGA	0.264																																																	0								ENSG00000179008						55	54	54					14																	60945104		2201	4293	6494	C14orf39	SO:0001587	stop_gained	0			-	HGNC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.237G>A	14.37:g.60945104C>T	ENSP00000324920:p.Trp79*	Somatic	0	123	0		0.515229469712394	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	71	40.34	Q08AQ4	Nonsense_Mutation	SNP							NULL	p.W79*	ENST00000321731.3	37	c.237	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518601	0.27211	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	.	.	.	5.56	5.56	0.83823	.	0.090504	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3696	17.3748	0.87389	0.0:1.0:0.0:0.0	.	.	.	.	X	79;50;79	.	ENSP00000324920:W79X	W	-	3	0	C14orf39	60014857	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	4.769000	0.62300	2.771000	0.95319	0.650000	0.86243	TGG	-	NULL		0.264	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	protein_coding	OTTHUMT00000276948.1	C	NM_174978	-		60945104	-1	no_errors	ENST00000321731	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	60945104	C	T	60945104	4	4	92	1	0	0	0	0	0	1	0	0	1774	856	30	2	1582	2	C14orf39	14	60945104	Nonsense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	39520740	60945104	46404436	38	5163											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42436674	42436674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccacgaactccctgccaGccacatagtccttgtgcaag	9	15	0	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr15:42436674G>T	ENST00000382396.4	-	17	2035	c.1949C>A	c.(1948-1950)gCt>gAt	p.A650D	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A652D			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	650	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCCCTGCCAGCCACATAGTC	0.612																																																	0								ENSG00000168907						67	60	62					15																	42436674		2203	4299	6502	PLA2G4F	SO:0001583	missense	0			-	HGNC		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1949C>A	15.37:g.42436674G>T	ENSP00000371833:p.Ala650Asp	Somatic	0	50	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6ZMC8	Missense_Mutation	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.A652D	ENST00000382396.4	37	c.1955	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241659	0.58995	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.12569	2.67;2.67	5.84	4.9	0.64082	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.541645	0.18219	N	0.147939	T	0.11410	0.0278	L	0.46157	1.445	0.09310	N	1	B;B	0.31680	0.335;0.335	B;B	0.25140	0.058;0.058	T	0.15178	-1.0446	10	0.26408	T	0.33	-10.2029	9.7032	0.40200	0.0:0.2098:0.5624:0.2277	.	437;650	A2RRC4;Q68DD2	.;PA24F_HUMAN	D	646;652;650;650	ENSP00000380442:A652D;ENSP00000371833:A650D	ENSP00000290497:A646D	A	-	2	0	PLA2G4F	40223966	0.000000	0.05858	0.064000	0.19789	0.938000	0.57974	0.604000	0.24164	2.758000	0.94735	0.609000	0.83330	GCT	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.612	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	protein_coding	OTTHUMT00000420463.1	G	NM_213600	-		42436674	-1	no_errors	ENST00000397272	ensembl	human	known	74_37	missense	SNP	0.011	T	T	42436674	G	T	42436674	3	4	92	1	0	0	0	0	1	0	0	0	12008	971	34	3	616	3	PLA2G4F	15	42436674	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09		42436674	60094718	39	5164											
PYGO1	26108	genome.wustl.edu	37	chr15	55838428	55838428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggcatcctgatcatcGttcacctcgtttgtacaaat	7	10	2	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr15:55838428G>A	ENST00000302000.6	-	3	1147	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	PYGO1_ENST00000563719.1_Silent_p.N351N	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	351	Interaction with H3K4me2.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCTGATCATCGTTCACCTCGT	0.448																																																	0								ENSG00000171016						210	185	193					15																	55838428		2193	4292	6485	PYGO1	SO:0001819	synonymous_variant	0			-	HGNC	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1053C>T	15.37:g.55838428G>A		Somatic	0	17	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A7Y2D6	Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.N351	ENST00000302000.6	37	c.1053	CCDS10155.1	15																																																																																			-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.448	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	protein_coding	OTTHUMT00000254977.2	G	NM_015617	-		55838428	-1	no_errors	ENST00000302000	ensembl	human	known	74_37	silent	SNP	0.996	A	A	55838428	G	A	55838428	2	1	92	1	0	0	0	0	0	0	0	1	12871	1136	40	1		1	PYGO1	15	55838428	Silent	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	13401754	55838428	46692964	40	5165											
LINGO1	84894	genome.wustl.edu	37	chr15	77906924	77906924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcccggcacacaaactgcAccgtgtggccctcgtccaca	10	18	0	0			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr15:77906924A>G	ENST00000355300.6	-	2	1499	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	LINGO1_ENST00000561030.1_Missense_Mutation_p.V436A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	442	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CACAAACTGCACCGTGTGGCC	0.662																																																	0								ENSG00000169783						13	17	15					15																	77906924		2084	4170	6254	LINGO1	SO:0001583	missense	0			-	HGNC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1325T>C	15.37:g.77906924A>G	ENSP00000347451:p.Val442Ala	Somatic	0	31	0		0.515229469712394	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V442A	ENST00000355300.6	37	c.1325	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220851	0.39201	.	.	ENSG00000169783	ENST00000355300	T	0.32272	1.46	4.55	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.13168	0.305	0.80722	D	1	B	0.33120	0.398	P	0.44860	0.462	T	0.10965	-1.0607	10	0.18710	T	0.47	.	13.8933	0.63753	1.0:0.0:0.0:0.0	.	442	Q96FE5	LIGO1_HUMAN	A	442	ENSP00000347451:V442A	ENSP00000347451:V442A	V	-	2	0	LINGO1	75693979	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.339000	0.96797	1.686000	0.51046	0.379000	0.24179	GTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	protein_coding	OTTHUMT00000419546.1	A	NM_032808	-		77906924	-1	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77906924	A	G	77906924	3	3	92	1	0	0	0	0	1	0	0	0	8816	159	6	5	541	5	LINGO1	15	77906924	Missense_Mutation	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09	22068496	77906924	24624468	41	5166											
DDX28	55794	genome.wustl.edu	37	chr16	68055551	68055551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacttctccttcggcgagCcgccagctcaatcttctgaa	8	14	4	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr16:68055551C>T	ENST00000332395.5	-	1	2219	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	519	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTTCGGCGAGCCGCCAGCTCA	0.542																																																	0								ENSG00000182810						44	43	43					16																	68055551		2198	4300	6498	DDX28	SO:0001583	missense	0			-	HGNC	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1555G>A	16.37:g.68055551C>T	ENSP00000332340:p.Ala519Thr	Somatic	0	44	0		0.515229469712394	97	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43		Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A519T	ENST00000332395.5	37	c.1555	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.133185	0.94517	.	.	ENSG00000182810	ENST00000332395	T	0.03181	4.02	5.81	5.81	0.92471	Helicase, C-terminal (1);	0.055140	0.64402	D	0.000001	T	0.07458	0.0188	N	0.11255	0.115	0.58432	D	0.999997	D	0.63880	0.993	D	0.63703	0.917	T	0.59862	-0.7374	10	0.22109	T	0.4	-10.0988	20.089	0.97809	0.0:1.0:0.0:0.0	.	519	Q9NUL7	DDX28_HUMAN	T	519	ENSP00000332340:A519T	ENSP00000332340:A519T	A	-	1	0	DDX28	66613052	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.723000	0.68492	2.752000	0.94435	0.557000	0.71058	GCT	-	pfscan_Helicase_C		0.542	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	protein_coding	OTTHUMT00000268883.1	C	NM_018380	-		68055551	-1	no_errors	ENST00000332395	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68055551	C	T	68055551	3	4	92	1	0	0	0	0	1	0	0	0	4357	739	26	2	71	2	DDX28	16	68055551	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09		68055551	22299202	42	5167											
CDH15	1013	genome.wustl.edu	37	chr16	89251598	89251598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcacctatgtgaccaggGcagaggccacagatgccgac	13	13	0	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr16:89251598G>T	ENST00000289746.2	+	5	585	c.520G>T	c.(520-522)Gca>Tca	p.A174S		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGTGACCAGGGCAGAGGCCAC	0.677																																																	0								ENSG00000129910						35	35	35					16																	89251598		2188	4294	6482	CDH15	SO:0001583	missense	0			-	HGNC	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.520G>T	16.37:g.89251598G>T	ENSP00000289746:p.Ala174Ser	Somatic	0	55	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.30		Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A174S	ENST00000289746.2	37	c.520	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404156	0.83230	.	.	ENSG00000129910	ENST00000289746	T	0.51817	0.69	4.76	4.76	0.60689	Cadherin (5);Cadherin-like (1);	0.114099	0.37136	N	0.002225	T	0.60894	0.2304	L	0.47190	1.495	0.42157	D	0.99158	D	0.61080	0.989	D	0.64144	0.922	T	0.65701	-0.6104	10	0.87932	D	0	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	174	P55291	CAD15_HUMAN	S	174	ENSP00000289746:A174S	ENSP00000289746:A174S	A	+	1	0	CDH15	87779099	0.898000	0.30612	0.962000	0.40283	0.548000	0.35241	2.558000	0.45879	2.187000	0.69744	0.462000	0.41574	GCA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.677	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	protein_coding	OTTHUMT00000269920.1	G	NM_004933	-		89251598	1	no_errors	ENST00000289746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89251598	G	T	89251598	3	4	92	1	0	0	0	0	1	0	0	0	3102	1203	42	3	538	3	CDH15	16	89251598	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	21196047	89251598	1103155	43	5168											
TP53	7157	genome.wustl.edu	37	chr17	7579328	7579329	+	Frame_Shift_Ins	INS	-	-	TAAG													gaccgtgcaagtcacagactINStggctgtcccagaatgcaag					rs121912658		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr17:7579328_7579329insTAAG	ENST00000269305.4	-	4	547_548	c.358_359insCTTA	c.(358-360)aagfs	p.K120fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.K120fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.K120fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.K120fs|TP53_ENST00000574684.1_5'Flank	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	120	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> 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.0?(8)|p.K120M(5)|p.K120E(3)|p.G59fs*23(3)|p.K120fs*3(2)|p.K120R(2)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(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)	AGTCACAGACTTGGCTGTCCCA	0.564		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	34	Substitution - Missense(11)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(2)|Substitution - Nonsense(2)	upper_aerodigestive_tract(5)|urinary_tract(5)|bone(5)|lung(4)|breast(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|soft_tissue(1)|liver(1)|ovary(1)|pancreas(1)|prostate(1)	GRCh37	CM921039	TP53	M	rs121912658	ENSG00000141510																																			TP53	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;		HGNC	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.358_359insCTTA	17.37:g.7579328_7579329insTAAG	ENSP00000269305:p.Lys120fs	Somatic	0	126	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	88	40.54	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K120fs	ENST00000269305.4	37	c.359_358	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.564	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546			7579329	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	TAAG	TAAG	7579329	-	TAAG	7579328	7	5	92	1	0	1	1	0	0	0	0	0	16388	1609	56	0	943	0	TP53	17	7579328	Frame_Shift_Ins	INS	-	TCGA-DX-A7ET-01A-11D-A36J-09		7579328	73615882	44	5169											
PMP22	5376	genome.wustl.edu	37	chr17	15134333	15134333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaaccgtaggagtaatcCgagttgagatgccactccgg	13	10	0	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr17:15134333C>T	ENST00000395938.2	-	5	578	c.384G>A	c.(382-384)tcG>tcA	p.S128S	PMP22_ENST00000494511.1_Missense_Mutation_p.G69R|PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Silent_p.S128S	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	128					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGGAGTAATCCGAGTTGAGAT	0.597																																																	0								ENSG00000109099						73	64	67					17																	15134333		2203	4300	6503	PMP22	SO:0001819	synonymous_variant	0			-	HGNC	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.384G>A	17.37:g.15134333C>T		Somatic	0	64	0		0.515229469712394	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	Q8WV01	Missense_Mutation	SNP							NULL	p.G69R	ENST00000395938.2	37	c.205	CCDS11168.1	17																																																																																			-	NULL		0.597	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	protein_coding	OTTHUMT00000130378.1	C	NM_000304	-		15134333	-1	no_errors	ENST00000494511	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	15134333	C	T	15134333	2	4	92	1	0	0	0	0	0	0	0	1	12141	639	23	1		1	PMP22	17	15134333	Silent	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	7555005	15134333	66060877	45	5170											
RASD1	51655	genome.wustl.edu	37	chr17	17398573	17398578	+	In_Frame_Del	DEL	CGCCGC	CGCCGC	-													gccaaaggcgtcgcccgggtCgccgccgccgccgccgctgc					rs551947598|rs200956285|rs146717971	byFrequency	TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	CGCCGC	CGCCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr17:17398573_17398578delCGCCGC	ENST00000225688.3	-	2	918_923	c.707_712delGCGGCG	c.(706-714)ggcggcgac>gac	p.GG236del	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	236					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						TCGCCCGGGTcgccgccgccgccgcc	0.704														17	0.00339457	0.0076	0.0014	5008	,	,		14973	0.004		0.001	False		,,,				2504	0.001																0								ENSG00000108551		,	5,17,25,3003		2,0,0,1,3,0,11,5,15,1488					,	2.4	0.9			5	1,12,99,6120		0,0,0,1,4,0,4,10,79,3018	no	codingComplex,utr-3	RASD1	NM_016084.4,NM_001199989.1	,	2,0,0,2,7,0,15,15,94,4506	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		1.7972,1.541,1.713	,	,		6,29,124,9123				RASD1	SO:0001651	inframe_deletion	0				HGNC	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.707_712delGCGGCG	17.37:g.17398579_17398584delCGCCGC	ENSP00000225688:p.Gly236_Gly237del	Somatic					0.515229469712394	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R709|B4DFF4|Q9NYB4	In_Frame_Del	DEL							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.GG236in_frame_del	ENST00000225688.3	37	c.712_707	CCDS11185.1	17																																																																																			-	smart_Ran_GTPase		0.704	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	protein_coding	OTTHUMT00000131668.1	CGCCGC	NM_016084			17398578	-1	no_errors	ENST00000225688	ensembl	human	known	74_37	in_frame_del	DEL	0.406:0.464:0.573:0.575:0.556:0.538	-	-	17398578	CGCCGC	-	17398573	7	5	92	1	0	1	0	1	0	0	0	0	13074	884	31	0	137	0	RASD1	17	17398573	In_Frame_Del	DEL	CGCCGC	TCGA-DX-A7ET-01A-11D-A36J-09	2264240	17398573	63796637	46	5171											
FAM83G	644815	genome.wustl.edu	37	chr17	18881217	18881217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggtcactgagggttaCgtagtcgtcatcatcttctt	10	10	5	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr17:18881217C>T	ENST00000388995.6	-	5	1985	c.1762G>A	c.(1762-1764)Gta>Ata	p.V588I	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V588I|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V588I|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	588					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGAGGGTTACGTAGTCGTCA	0.637																																																	0								ENSG00000188522						43	50	47					17																	18881217		2027	4165	6192	FAM83G	SO:0001583	missense	0			-	HGNC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1762G>A	17.37:g.18881217C>T	ENSP00000373647:p.Val588Ile	Somatic	0	25	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP							pfam_DUF1669	p.V588I	ENST00000388995.6	37	c.1762	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	C	8.715	0.912901	0.17907	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.13901	2.55;2.55	5.91	3.81	0.43845	.	0.606625	0.15652	N	0.251339	T	0.12774	0.0310	L	0.55103	1.725	0.30727	N	0.747607	B	0.26708	0.157	B	0.15052	0.012	T	0.18398	-1.0338	10	0.14252	T	0.57	-18.1311	11.2998	0.49298	0.0:0.7548:0.0:0.2452	.	588	A6ND36	FA83G_HUMAN	I	588	ENSP00000373647:V588I;ENSP00000343279:V588I	ENSP00000343279:V588I	V	-	1	0	FAM83G	18821942	0.526000	0.26298	0.663000	0.29738	0.839000	0.47603	0.827000	0.27421	0.344000	0.23847	-0.797000	0.03246	GTA	-	NULL		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	protein_coding	OTTHUMT00000253108.4	C		-		18881217	-1	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	SNP	0.853	T	T	18881217	C	T	18881217	3	4	92	1	0	0	0	0	1	0	0	0	5641	536	19	1	717	1	FAM83G	17	18881217	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	1482644	18881217	62313993	47	5172											
CIRBP	1153	genome.wustl.edu	37	chr19	1271446	1271446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccgtgggggccgaggacGgggccgtgggttctctagag	19	10	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr19:1271446G>T	ENST00000588030.1	+	4	589	c.329G>T	c.(328-330)cGg>cTg	p.R110L	CIRBP_ENST00000413636.2_Intron|CIRBP_ENST00000588090.1_Missense_Mutation_p.R110L|CIRBP_ENST00000587323.1_Missense_Mutation_p.R110L|CIRBP_ENST00000589686.1_Missense_Mutation_p.R110L|CIRBP_ENST00000587896.1_Missense_Mutation_p.R110L|CIRBP_ENST00000589235.1_Missense_Mutation_p.R110L|CIRBP_ENST00000320936.5_Missense_Mutation_p.R110L|CIRBP_ENST00000586472.1_Missense_Mutation_p.R110L|CIRBP_ENST00000589660.1_Missense_Mutation_p.R110L|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000586773.1_Missense_Mutation_p.R110L|CIRBP_ENST00000589710.1_Missense_Mutation_p.R110L|CIRBP_ENST00000585630.1_Missense_Mutation_p.R110L|CIRBP_ENST00000444172.2_Missense_Mutation_p.R57L|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000588230.1_Missense_Mutation_p.R110L|CIRBP_ENST00000591935.1_Missense_Mutation_p.R110L			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	110	Gly-rich.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		GGCCGAGGACGGGGCCGTGGG	0.627																																																	0								ENSG00000099622						55	70	65					19																	1271446		2202	4299	6501	CIRBP	SO:0001583	missense	0			-	HGNC	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"RNA binding motif (RRM) containing"	1982	protein-coding gene	gene with protein product	"Cold-inducible RNA-binding protein", "glycine-rich RNA binding protein"	602649	"cold inducible RNA-binding protein"			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.329G>T	19.37:g.1271446G>T	ENSP00000468788:p.Arg110Leu	Somatic	0	54	0		0.515229469712394	33	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B3KT17|B4E2X2	Missense_Mutation	SNP							NULL	p.R57L	ENST00000588030.1	37	c.170	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067745	0.55539	.	.	ENSG00000099622	ENST00000320936;ENST00000444172	T	0.75477	-0.94	4.55	2.36	0.29203	.	0.072466	0.52532	D	0.000061	T	0.64260	0.2582	M	0.69358	2.11	0.54753	D	0.999986	B;B;B	0.29136	0.016;0.234;0.001	B;B;B	0.23574	0.006;0.047;0.001	T	0.52351	-0.8587	10	0.12103	T	0.63	.	7.45	0.27234	0.0898:0.0:0.7434:0.1668	.	110;110;110	Q53XX5;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	L	110;57	ENSP00000322887:R110L	ENSP00000322887:R110L	R	+	2	0	CIRBP	1222446	1.000000	0.71417	0.652000	0.29579	0.940000	0.58332	9.047000	0.93823	0.342000	0.23796	0.462000	0.41574	CGG	-	NULL		0.627	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	protein_coding	OTTHUMT00000449969.1	G	NM_001280	-		1271446	1	no_errors	ENST00000444172	ensembl	human	known	74_37	missense	SNP	0.999	T	T	1271446	G	T	1271446	3	4	92	1	0	0	0	0	1	0	0	0	3435	1116	39	3	339	3	CIRBP	19	1271446	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09		1271446	57857537	48	5173											
ZNF229	7772	genome.wustl.edu	37	chr19	44933794	44933794	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaagcaggtttgaacttcGaccaaatgccttcccacact	7	13	0	1	rs377446964		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr19:44933794G>A	ENST00000588931.1	-	6	1595	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Nonsense_Mutation_p.R382*|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	388					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)				TTTGAACTTCGACCAAATGCC	0.478																																																	0								ENSG00000167383						102	112	108					19																	44933794		2198	4299	6497	ZNF229	SO:0001587	stop_gained	0			-	HGNC	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.1162C>T	19.37:g.44933794G>A	ENSP00000466519:p.Arg388*	Somatic	0	98	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	24	76.24	B2RWN3|Q59FV2|Q86WL9	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R388*	ENST00000588931.1	37	c.1162	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.345153	0.99143	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.86	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	6.8977	0.24265	0.0981:0.0:0.7298:0.1721	.	.	.	.	X	388	.	ENSP00000291187:R388X	R	-	1	2	ZNF229	49625634	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.041000	0.12084	0.604000	0.29930	0.609000	0.83330	CGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	protein_coding	OTTHUMT00000460833.1	G	NM_014518	-		44933794	-1	no_errors	ENST00000588931	ensembl	human	known	74_37	nonsense	SNP	0.004	A	A	44933794	G	A	44933794	4	1	92	1	0	0	0	0	0	1	0	0	17789	1066	37	1	1319	1	ZNF229	19	44933794	Nonsense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	43662348	44933794	14195189	49	5174											
MARK4	57787	genome.wustl.edu	37	chr19	45801209	45801209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgacctccaaactgacccGaaggtgagctccgcggggat	13	13	0	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr19:45801209G>A	ENST00000262891.4	+	15	2205	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	MARK4_ENST00000300843.4_Missense_Mutation_p.R625Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	625					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AAACTGACCCGAAGGTGAGCT	0.677																																																	0								ENSG00000007047						4	4	4					19																	45801209		1983	3874	5857	MARK4	SO:0001583	missense	0			-	HGNC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1874G>A	19.37:g.45801209G>A	ENSP00000262891:p.Arg625Gln	Somatic	0	26	0		0.515229469712394	27	32.5	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R625Q	ENST00000262891.4	37	c.1874	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.143308	0.94560	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;D	0.82344	0.55;-1.6	4.37	4.37	0.52481	.	0.082600	0.48767	D	0.000163	D	0.88403	0.6427	L	0.55990	1.75	0.58432	D	0.999996	D;D	0.71674	0.997;0.998	D;D	0.75484	0.968;0.986	D	0.89488	0.3755	10	0.72032	D	0.01	.	14.5049	0.67746	0.0:0.0:1.0:0.0	.	625;625	Q96L34;Q96L34-2	MARK4_HUMAN;.	Q	625	ENSP00000262891:R625Q;ENSP00000300843:R625Q	ENSP00000262891:R625Q	R	+	2	0	MARK4	50493049	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.888000	0.92464	2.255000	0.74692	0.454000	0.30748	CGA	-	NULL		0.677	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	protein_coding	OTTHUMT00000457537.1	G	NM_031417	-		45801209	1	no_errors	ENST00000262891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45801209	G	A	45801209	3	1	92	1	0	0	0	0	1	0	0	0	9317	1058	37	1	1932	1	MARK4	19	45801209	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	867415	45801209	13327774	50	5175											
MEIS3	56917	genome.wustl.edu	37	chr19	47909762	47909762	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgccattctccttccaagTtcaaactcatccccactgat	3	15	3	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr19:47909762T>A	ENST00000558555.1	-	12	1287	c.1100A>T	c.(1099-1101)aAc>aTc	p.N367I	MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000561096.1_Missense_Mutation_p.N455I|MEIS3_ENST00000441740.2_Missense_Mutation_p.N350I|MEIS3_ENST00000561293.1_Missense_Mutation_p.N413I|MEIS3_ENST00000331559.5_Missense_Mutation_p.N396I|MEIS3_ENST00000559524.1_Missense_Mutation_p.N413I			Q99687	MEIS3_HUMAN	Meis homeobox 3	367				MSLNLEG -> DEFGTRKE (in Ref. 5). {ECO:0000305}.	negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	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)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TCCTTCCAAGTTCAAACTCAT	0.493																																																	0								ENSG00000105419						101	90	94					19																	47909762		2203	4300	6503	MEIS3	SO:0001583	missense	0			-	HGNC	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.1100A>T	19.37:g.47909762T>A	ENSP00000454073:p.Asn367Ile	Somatic	0	48	0		0.515229469712394	385	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.N413I	ENST00000558555.1	37	c.1238		19	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324206	0.41197	.	.	ENSG00000105419	ENST00000331559;ENST00000441740;ENST00000437609	D	0.87491	-2.26	3.55	3.55	0.40652	.	0.270402	0.31041	N	0.008368	D	0.88966	0.6581	L	0.44542	1.39	0.33667	D	0.610467	D;P;D;D	0.76494	0.997;0.57;0.958;0.999	P;B;P;D	0.75020	0.879;0.254;0.74;0.985	D	0.90927	0.4787	10	0.87932	D	0	-43.1811	8.7894	0.34841	0.0:0.0:0.0:1.0	.	259;367;350;413	Q8TCW1;Q99687;Q99687-3;Q99687-2	.;MEIS3_HUMAN;.;.	I	413;350;44	ENSP00000388667:N350I	ENSP00000333552:N413I	N	-	2	0	MEIS3	52601574	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	1.873000	0.39558	1.857000	0.53885	0.352000	0.21897	AAC	-	NULL		0.493	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	protein_coding	OTTHUMT00000417642.1	T	XM_085929	-		47909762	-1	no_errors	ENST00000559524	ensembl	human	known	74_37	missense	SNP	0.996	A	A	47909762	T	A	47909762	3	1	92	1	0	0	0	0	1	0	0	0	9471	1725	60	5	31	5	MEIS3	19	47909762	Missense_Mutation	SNP	T	TCGA-DX-A7ET-01A-11D-A36J-09	2108553	47909762	11219221	51	5176											
SLC8A2	6543	genome.wustl.edu	37	chr19	47969082	47969082	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaagaagactctcaggtgCttgatcttgcggctctcgcc	10	12	3	3			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr19:47969082C>G	ENST00000236877.6	-	2	974	c.579G>C	c.(577-579)aaG>aaC	p.K193N	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	193					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCTCAGGTGCTTGATCTTGC	0.562																																																	0								ENSG00000118160						70	48	55					19																	47969082		2203	4300	6503	SLC8A2	SO:0001583	missense	0			-	HGNC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.579G>C	19.37:g.47969082C>G	ENSP00000236877:p.Lys193Asn	Somatic	0	53	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B4DYQ9	Missense_Mutation	SNP							pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.K193N	ENST00000236877.6	37	c.579	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537919	0.65085	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.64438	-0.1	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.971	T	0.79688	-0.1699	10	0.87932	D	0	.	15.1426	0.72623	0.0:1.0:0.0:0.0	.	21;193	E9PGS7;Q9UPR5	.;NAC2_HUMAN	N	21;193	ENSP00000236877:K193N	ENSP00000236877:K193N	K	-	3	2	SLC8A2	52660894	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.600000	0.24104	2.098000	0.63641	0.462000	0.41574	AAG	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.562	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	protein_coding	OTTHUMT00000466997.1	C		-		47969082	-1	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47969082	C	G	47969082	3	3	92	1	0	0	0	0	1	0	0	0	14715	796	28	4	2222	4	SLC8A2	19	47969082	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	59320	47969082	11159901	52	5177											
ZNF613	79898	genome.wustl.edu	37	chr19	52448392	52448392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggcaacctccttattcatcGacgtactcacactggagaga	9	12	2	1	rs138087596	byFrequency	TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr19:52448392G>T	ENST00000293471.6	+	6	1935	c.1256G>T	c.(1255-1257)cGa>cTa	p.R419L	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R383L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	419					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)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTATTCATCGACGTACTCAC	0.408																																																	0								ENSG00000176024						73	70	71					19																	52448392		2203	4300	6503	ZNF613	SO:0001583	missense	0			-	HGNC	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1256G>T	19.37:g.52448392G>T	ENSP00000293471:p.Arg419Leu	Somatic	0	64	0		0.515229469712394	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	Q96SS9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R419L	ENST00000293471.6	37	c.1256	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745583	0.30955	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.37235	1.21;1.21	3.36	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.467838	0.15964	N	0.236109	T	0.15955	0.0384	N	0.03881	-0.34	0.23594	N	0.997334	B	0.02656	0.0	B	0.10450	0.005	T	0.22347	-1.0219	10	0.87932	D	0	.	7.902	0.29740	0.8919:0.0:0.1081:0.0	.	419	Q6PF04	ZN613_HUMAN	L	419;383;93	ENSP00000293471:R419L;ENSP00000375671:R383L	ENSP00000293471:R419L	R	+	2	0	ZNF613	57140204	0.000000	0.05858	0.830000	0.32933	0.826000	0.46750	-0.494000	0.06451	0.436000	0.26393	-0.436000	0.05848	CGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	protein_coding	OTTHUMT00000461104.2	G	NM_024840	-		52448392	1	no_errors	ENST00000293471	ensembl	human	known	74_37	missense	SNP	0.846	T	T	52448392	G	T	52448392	3	4	92	1	0	0	0	0	1	0	0	0	18045	1058	37	3	1270	3	ZNF613	19	52448392	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	4479310	52448392	6680591	53	5178											
MMP24	10893	genome.wustl.edu	37	chr20	33851599	33851599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcctctccacagggaacGacctcttcctggtggctgtg	10	15	2	0	rs376734021		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr20:33851599G>A	ENST00000246186.6	+	5	908	c.823G>A	c.(823-825)Gac>Aac	p.D275N	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	275					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CACAGGGAACGACCTCTTCCT	0.627																																																	0								ENSG00000125966						18	19	19					20																	33851599		2202	4299	6501	MMP24	SO:0001583	missense	0			-	HGNC	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.823G>A	20.37:g.33851599G>A	ENSP00000246186:p.Asp275Asn	Somatic	0	36	0		0.515229469712394	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	B7ZBG8|Q9H440	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D275N	ENST00000246186.6	37	c.823	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936445	0.92458	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.21191	2.02	5.05	5.05	0.67936	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	N	0.17838	0.53	0.80722	D	1	D	0.63880	0.993	P	0.61592	0.891	T	0.03000	-1.1084	10	0.38643	T	0.18	.	17.547	0.87865	0.0:0.0:1.0:0.0	.	275	Q9Y5R2	MMP24_HUMAN	N	275;223	ENSP00000246186:D275N	ENSP00000246186:D275N	D	+	1	0	MMP24	33315015	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	6.481000	0.73608	2.606000	0.88127	0.655000	0.94253	GAC	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	protein_coding	OTTHUMT00000078851.4	G	NM_006690	-		33851599	1	no_errors	ENST00000246186	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33851599	G	A	33851599	3	1	92	1	0	0	0	0	1	0	0	0	9663	1058	37	1	591	1	MMP24	20	33851599	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09		33851599	29173921	54	5179											
JPH2	57158	genome.wustl.edu	37	chr20	42789014	42789014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtactccgtagccatggCgcatgccgttggtgaactgg	15	11	0	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr20:42789014C>T	ENST00000372980.3	-	2	1285	c.413G>A	c.(412-414)cGc>cAc	p.R138H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	138	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTAGCCATGGCGCATGCCGTT	0.711																																																	0								ENSG00000149596						22	12	15					20																	42789014		2086	4080	6166	JPH2	SO:0001583	missense	0			-	HGNC	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.413G>A	20.37:g.42789014C>T	ENSP00000362071:p.Arg138His	Somatic	0	90	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	73	13.10	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP							pfam_MORN,smart_MORN,pirsf_Junctophilin	p.R138H	ENST00000372980.3	37	c.413	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	c	21.3	4.133132	0.77662	.	.	ENSG00000149596	ENST00000372980	T	0.60040	0.22	3.34	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.73032	0.3535	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77981	-0.2383	10	0.87932	D	0	.	14.8586	0.70362	0.0:1.0:0.0:0.0	.	138	Q9BR39	JPH2_HUMAN	H	138	ENSP00000362071:R138H	ENSP00000362071:R138H	R	-	2	0	JPH2	42222428	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.241000	0.78201	1.700000	0.51204	0.306000	0.20318	CGC	-	pfam_MORN,smart_MORN,pirsf_Junctophilin		0.711	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	protein_coding	OTTHUMT00000080307.1	C		-		42789014	-1	no_errors	ENST00000372980	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42789014	C	T	42789014	3	4	92	1	0	0	0	0	1	0	0	0	7963	768	27	1	1693	1	JPH2	20	42789014	Missense_Mutation	SNP	C	TCGA-DX-A7ET-01A-11D-A36J-09	8937415	42789014	20236506	55	5180											
APOL4	80832	genome.wustl.edu	37	chr22	36598054	36598054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagatgcagacgacaAagattttcagcaaagcagct	8	11	2	3	rs71296614		TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chr22:36598054A>G	ENST00000404685.3	-	2	253	c.29T>C	c.(28-30)tTt>tCt	p.F10S	APOL4_ENST00000332987.1_5'UTR|APOL4_ENST00000405511.1_5'UTR|APOL4_ENST00000429038.2_5'UTR|APOL4_ENST00000328429.4_5'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.F10S|APOL4_ENST00000397275.2_5'UTR|APOL4_ENST00000479929.1_Intron	NM_145660.1	NP_663693.1	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	10					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						GCAGACGACAAAGATTTTCAG	0.602																																																	0								ENSG00000100336						56	61	59					22																	36598054		2203	4300	6503	APOL4	SO:0001583	missense	0			-	HGNC	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"Apolipoproteins"	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000404685.3:c.29T>C	22.37:g.36598054A>G	ENSP00000385119:p.Phe10Ser	Somatic	0	50	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q9BQ37|Q9BXQ8	Missense_Mutation	SNP							pfam_ApoL	p.F10S	ENST00000404685.3	37	c.29		22	.	.	.	.	.	.	.	.	.	.	A	6.320	0.427186	0.11987	.	.	ENSG00000100336	ENST00000404685;ENST00000352371	T;T	0.32023	1.47;3.81	1.3	0.165	0.14995	.	2.280070	0.03776	U	0.260568	T	0.18923	0.0454	.	.	.	0.24278	N	0.99521	B	0.10296	0.003	B	0.04013	0.001	T	0.17289	-1.0374	9	0.31617	T	0.26	.	3.52	0.07739	0.2916:0.0:0.7084:0.0	.	10	Q9BPW4	APOL4_HUMAN	S	10	ENSP00000385119:F10S;ENSP00000338260:F10S	ENSP00000338260:F10S	F	-	2	0	APOL4	34928000	0.173000	0.23056	0.138000	0.22173	0.108000	0.19459	0.389000	0.20751	0.083000	0.17047	0.172000	0.16884	TTT	-	NULL		0.602	APOL4-001	PUTATIVE	basic	protein_coding	APOL4	protein_coding	OTTHUMT00000319255.2	A	NM_145660	-		36598054	-1	no_errors	ENST00000352371	ensembl	human	known	74_37	missense	SNP	0.174	G	G	36598054	A	G	36598054	3	3	92	1	0	0	0	0	1	0	0	0	808	14	1	5	1079	5	APOL4	22	36598054	Missense_Mutation	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09		36598054	14706512	56	5181											
VCX2	51480	genome.wustl.edu	37	chrX	8138101	8138101	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctctcggagacaggggaaAagctggccatccacacagtc	12	12	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chrX:8138101A>T	ENST00000317103.4	-	3	698	c.392T>A	c.(391-393)tTt>tAt	p.F131Y		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	131										endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GACAGGGGAAAAGCTGGCCAT	0.572																																																	0								ENSG00000177504						105	100	101					X																	8138101		2201	4283	6484	VCX2	SO:0001583	missense	0			-	HGNC	AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.392T>A	X.37:g.8138101A>T	ENSP00000321309:p.Phe131Tyr	Somatic	0	70	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	20	64.91	A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP							NULL	p.F131Y	ENST00000317103.4	37	c.392	CCDS35200.1	X	.	.	.	.	.	.	.	.	.	.	T	4.936	0.173830	0.09391	.	.	ENSG00000177504	ENST00000317103	T	0.15718	2.4	.	.	.	.	.	.	.	.	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46091	-0.9216	7	0.02654	T	1	.	.	.	.	.	131	Q9H322	VCX2_HUMAN	Y	131	ENSP00000321309:F131Y	ENSP00000321309:F131Y	F	-	2	0	VCX2	8098101	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.906000	0.04071	-2.269000	0.00684	-2.333000	0.00248	TTT	-	NULL		0.572	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	VCX2	protein_coding	OTTHUMT00000055690.1	A	NM_016378	-		8138101	-1	no_errors	ENST00000317103	ensembl	human	known	74_37	missense	SNP	0.000	T	T	8138101	A	T	8138101	3	4	92	1	0	0	0	0	1	0	0	0	17150	14	1	5	31	5	VCX2	23	8138101	Missense_Mutation	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09		8138101	147132459	57	5182											
PHKA1	5255	genome.wustl.edu	37	chrX	71855041	71855041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggggaaggtgatggtggGctggcctgtcatccgccagc	18	9	1	1			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chrX:71855041G>A	ENST00000373542.4	-	16	1837	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	PHKA1_ENST00000541944.1_Missense_Mutation_p.P560S|PHKA1_ENST00000373539.3_Missense_Mutation_p.P560S|PHKA1_ENST00000373545.3_Missense_Mutation_p.P560S|PHKA1_ENST00000339490.3_Missense_Mutation_p.P560S	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	560					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTGATGGTGGGCTGGCCTGTC	0.498																																																	0								ENSG00000067177						120	95	103					X																	71855041		2203	4300	6503	PHKA1	SO:0001583	missense	0			-	HGNC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1678C>T	X.37:g.71855041G>A	ENSP00000362643:p.Pro560Ser	Somatic	0	33	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.P560S	ENST00000373542.4	37	c.1678	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692499	0.68271	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.96365	-3.93;-3.99;-3.87;-3.92;-3.98	4.47	4.47	0.54385	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.99593	1.0976	10	0.87932	D	0	-24.9069	13.9669	0.64213	0.0:0.0:1.0:0.0	.	560;560;560	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	S	560	ENSP00000362646:P560S;ENSP00000362643:P560S;ENSP00000441251:P560S;ENSP00000342469:P560S;ENSP00000362640:P560S	ENSP00000342469:P560S	P	-	1	0	PHKA1	71771766	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	9.705000	0.98719	1.956000	0.56807	0.415000	0.27848	CCC	-	pfam_Glyco_hydro_15		0.498	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	protein_coding	OTTHUMT00000058896.1	G		-		71855041	-1	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71855041	G	A	71855041	3	1	92	1	0	0	0	0	1	0	0	0	11845	1203	42	2	2061	2	PHKA1	23	71855041	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	63716940	71855041	83415519	58	5183											
NRK	203447	genome.wustl.edu	37	chrX	105183864	105183864	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatattttcttatctatcAggtcataagaacagacttcg	6	7	4	2			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chrX:105183864A>G	ENST00000243300.9	+	23	4102		c.e23-1		NRK_ENST00000428173.2_Splice_Site	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase						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)			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						CTTATCTATCAGGTCATAAGA	0.284										HNSCC(51;0.14)																																							0								ENSG00000123572						35	30	32					X																	105183864		1791	4056	5847	NRK	SO:0001630	splice_region_variant	0			-	HGNC	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.3800-1A>G	X.37:g.105183864A>G		Somatic	0	27	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q32ND6|Q5H9K2|Q6ZMP2	Splice_Site	SNP							-	e23-2	ENST00000243300.9	37	c.3803-2		X	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951499	0.53186	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8137	0.63278	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRK	105070520	1.000000	0.71417	0.373000	0.26003	0.159000	0.22180	7.574000	0.82434	1.943000	0.56356	0.441000	0.28932	.	-	-		0.284	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	protein_coding	OTTHUMT00000106480.6	A	NM_198465	-	Intron	105183864	1	no_errors	ENST00000428173	ensembl	human	known	74_37	splice_site	SNP	0.991	G	G	105183864	A	G	105183864	5	3	92	1	0	0	0	0	0	0	1	0	10657	202	7	5	3888	5	NRK	23	105183864	Splice_Site	SNP	A	TCGA-DX-A7ET-01A-11D-A36J-09	33328823	105183864	50086696	59	5184											
AFF2	2334	genome.wustl.edu	37	chrX	147967440	147967440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcttgaggatgacctgaaGctgagcagtgatgaagatga	14	5	0	8			TCGA-DX-A7ET-01A-11D-A36J-09	TCGA-DX-A7ET-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1ae916d-acc8-4d6b-a887-073d27e808bf	d67007dd-9b20-44e4-9926-6d7cc9543082	g.chrX:147967440G>T	ENST00000370460.2	+	8	1763	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	AFF2_ENST00000370457.5_Missense_Mutation_p.K395N|AFF2_ENST00000342251.3_Missense_Mutation_p.K395N|AFF2_ENST00000286437.5_Missense_Mutation_p.K69N|AFF2_ENST00000370458.1_Missense_Mutation_p.K389N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	428					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)			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)					ATGACCTGAAGCTGAGCAGTG	0.448																																																	0								ENSG00000155966						342	294	311					X																	147967440		2203	4300	6503	AFF2	SO:0001583	missense	0			-	HGNC	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.1284G>T	X.37:g.147967440G>T	ENSP00000359489:p.Lys428Asn	Somatic	0	32	0		0.515229469712394	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.K428N	ENST00000370460.2	37	c.1284	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165033	0.57476	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.45	4.47	0.54385	.	0.058459	0.64402	D	0.000004	T	0.80110	0.4563	M	0.73598	2.24	0.46131	D	0.998887	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997;0.998;0.943	T	0.81008	-0.1127	10	0.72032	D	0.01	.	5.5048	0.16848	0.2821:0.0:0.7179:0.0	.	69;393;395;389;418;428;389	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	N	428;395;395;389;69	ENSP00000359489:K428N;ENSP00000359486:K395N;ENSP00000345459:K395N;ENSP00000359487:K389N;ENSP00000286437:K69N	ENSP00000286437:K69N	K	+	3	2	AFF2	147775133	1.000000	0.71417	0.998000	0.56505	0.599000	0.36880	2.078000	0.41567	2.259000	0.74868	0.594000	0.82650	AAG	-	pfam_TF_AF4/FMR2		0.448	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	-		147967440	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	0.999	T	T	147967440	G	T	147967440	3	4	92	1	0	0	0	0	1	0	0	0	357	962	34	3	1369	3	AFF2	23	147967440	Missense_Mutation	SNP	G	TCGA-DX-A7ET-01A-11D-A36J-09	42783576	147967440	7303120	60	5185											
CHD5	26038	genome.wustl.edu	37	chr1	6214848	6214848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccgctgctgccGcggagctgcccttgaagggg	16	17	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:6214848G>A	ENST00000262450.3	-	5	716	c.617C>T	c.(616-618)gCg>gTg	p.A206V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		cgctgctgccgcGGAGCTGCC	0.662																																																	0								ENSG00000116254						32	35	34					1																	6214848		2203	4300	6503	CHD5	SO:0001583	missense	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.617C>T	1.37:g.6214848G>A	ENSP00000262450:p.Ala206Val	Somatic	0	29	0		0.566033689646954	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A206V	ENST00000262450.3	37	c.617	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035996	0.54896	.	.	ENSG00000116254	ENST00000262450	D	0.90844	-2.74	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000003	D	0.93070	0.7794	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.91745	0.5407	10	0.28530	T	0.3	-28.4329	15.7436	0.77920	0.0:0.0:1.0:0.0	.	206	Q8TDI0	CHD5_HUMAN	V	206	ENSP00000262450:A206V	ENSP00000262450:A206V	A	-	2	0	CHD5	6137435	1.000000	0.71417	0.616000	0.29078	0.782000	0.44232	9.307000	0.96226	1.876000	0.54355	0.313000	0.20887	GCG	-	NULL		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	G	NM_015557	-		6214848	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6214848	G	A	6214848	3	1	93	1	0	0	0	0	1	0	0	0	3330	1087	38	1	5395	1	CHD5	1	6214848	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		6214848	243035773	1	5186											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16054148	16054148	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgagggaggctcaggagctGgaggcccagctgtccctggt	17	11	1	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:16054148G>T	ENST00000375799.3	+	9	1808	c.1581G>T	c.(1579-1581)ctG>ctT	p.L527L	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.L507L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	527					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTCAGGAGCTGGAGGCCCAGC	0.657																																																	0								ENSG00000116786						18	22	21					1																	16054148		1977	4155	6132	PLEKHM2	SO:0001819	synonymous_variant	0			-	HGNC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1581G>T	1.37:g.16054148G>T		Somatic	0	36	0		0.566033689646954	112	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP							pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.L527	ENST00000375799.3	37	c.1581	CCDS44063.1	1																																																																																			-	NULL		0.657	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	protein_coding	OTTHUMT00000008463.1	G	NM_015164	-		16054148	1	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	SNP	0.091	T	T	16054148	G	T	16054148	2	4	93	1	0	0	0	0	0	0	0	1	12083	1335	47	3		3	PLEKHM2	1	16054148	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	9839300	16054148	233196473	2	5187											
PTPRU	10076	genome.wustl.edu	37	chr1	29641954	29641954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcagagtgtgagggcGtcgtggacatttacaactgt	14	7	0	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:29641954G>A	ENST00000345512.3	+	24	3457	c.3328G>A	c.(3328-3330)Gtc>Atc	p.V1110I	PTPRU_ENST00000356870.3_Missense_Mutation_p.V1106I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V1097I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V1106I|PTPRU_ENST00000373779.3_Missense_Mutation_p.V1100I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V1106I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1110	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1110I(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTGTGAGGGCGTCGTGGACAT	0.592																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000060656						132	120	124					1																	29641954		2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3328G>A	1.37:g.29641954G>A	ENSP00000334941:p.Val1110Ile	Somatic	0	35	0		0.566033689646954	37	15.91	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V1110I	ENST00000345512.3	37	c.3328	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.142054	0.94560	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.66	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.85703	0.5758	L	0.31371	0.925	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.989;0.989;0.989;0.994;0.994	D	0.84377	0.0547	9	.	.	.	.	17.0877	0.86615	0.0:0.0:1.0:0.0	.	1097;1106;1100;1106;1110	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	I	1110;1100;1106;1106;1097;1106	ENSP00000334941:V1110I;ENSP00000362884:V1100I;ENSP00000349333:V1106I;ENSP00000314987:V1106I;ENSP00000392332:V1097I;ENSP00000432906:V1106I	.	V	+	1	0	PTPRU	29514541	1.000000	0.71417	0.927000	0.36925	0.996000	0.88848	9.657000	0.98554	2.579000	0.87056	0.561000	0.74099	GTC	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	G		-		29641954	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29641954	G	A	29641954	3	1	93	1	0	0	0	0	1	0	0	0	12821	1145	40	1	3444	1	PTPRU	1	29641954	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	13587806	29641954	219608667	3	5188											
NRD1	4898	genome.wustl.edu	37	chr1	52305981	52305981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcagtatcaagatcatcatCatgttcatcatcaaactcat	3	11	9	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:52305981C>T	ENST00000354831.7	-	2	736	c.547G>A	c.(547-549)Gat>Aat	p.D183N	NRD1_ENST00000544028.1_Missense_Mutation_p.D51N|NRD1_ENST00000352171.7_Missense_Mutation_p.D183N|NRD1_ENST00000539524.1_Missense_Mutation_p.D51N|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						agatcatcatcatgttcatca	0.373																																																	0								ENSG00000078618						238	199	212					1																	52305981		2203	4300	6503	NRD1	SO:0001583	missense	0			-	HGNC	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.547G>A	1.37:g.52305981C>T	ENSP00000346890:p.Asp183Asn	Somatic	0	31	0		0.566033689646954	42	8.7	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP							pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.D183N	ENST00000354831.7	37	c.547	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093931	0.36952	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.46451	1.32;3.33;0.87;1.33	4.96	4.96	0.65561	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.608391	0.15383	N	0.265194	T	0.25306	0.0615	N	0.08118	0	0.21822	N	0.999525	B;P;P	0.34522	0.361;0.455;0.455	B;B;B	0.34242	0.178;0.135;0.086	T	0.13926	-1.0491	10	0.34782	T	0.22	-0.7399	13.5536	0.61747	0.0:1.0:0.0:0.0	.	183;182;183	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	N	183;183;51;183;51	ENSP00000262679:D183N;ENSP00000346890:D183N;ENSP00000444416:D51N;ENSP00000442262:D51N	ENSP00000262679:D183N	D	-	1	0	NRD1	52078569	0.806000	0.28996	1.000000	0.80357	0.963000	0.63663	0.930000	0.28858	2.558000	0.86282	0.555000	0.69702	GAT	-	superfamily_Metalloenz_LuxS/M16		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	protein_coding	OTTHUMT00000023045.1	C	NM_002525	-		52305981	-1	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52305981	C	T	52305981	3	4	93	1	0	0	0	0	1	0	0	0	10647	826	29	2	3240	2	NRD1	1	52305981	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	22664027	52305981	196944640	4	5189											
DAB1	1600	genome.wustl.edu	37	chr1	57535064	57535064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttccgtttcgggatcaCggattggctcgtgtccagcc	11	12	2	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:57535064C>T	ENST00000371231.1	-	7	666	c.632G>A	c.(631-633)cGt>cAt	p.R211H	DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.R211H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.R211H|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	211					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.R211H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTCGGGATCACGGATTGGCTC	0.403																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000173406						143	130	134					1																	57535064		2203	4300	6503	DAB1	SO:0001583	missense	0			-	HGNC	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.632G>A	1.37:g.57535064C>T	ENSP00000360275:p.Arg211His	Somatic	0	46	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	62	16.22	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.R211H	ENST00000371231.1	37	c.632		1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232315	0.58777	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	T;T;T	0.48522	0.86;0.86;0.81	5.53	5.53	0.82687	.	0.118664	0.64402	D	0.000008	T	0.34600	0.0903	N	0.19112	0.55	0.80722	D	1	P;P	0.48998	0.918;0.584	B;B	0.37650	0.255;0.087	T	0.13818	-1.0495	10	0.35671	T	0.21	-37.0793	19.6556	0.95837	0.0:1.0:0.0:0.0	.	211;211	O75553;O75553-6	DAB1_HUMAN;.	H	211	ENSP00000360280:R211H;ENSP00000360278:R211H;ENSP00000360275:R211H	ENSP00000360275:R211H	R	-	2	0	DAB1	57307652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.529000	0.60588	2.882000	0.98803	0.655000	0.94253	CGT	-	NULL		0.403	DAB1-010	KNOWN	basic	protein_coding	DAB1	protein_coding	OTTHUMT00000027962.1	C	NM_021080	-		57535064	-1	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57535064	C	T	57535064	3	4	93	1	0	0	0	0	1	0	0	0	4219	536	19	1	1063	1	DAB1	1	57535064	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	5229083	57535064	191715557	5	5190											
FRRS1	391059	genome.wustl.edu	37	chr1	100176425	100176425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcccaacatgccaggctaCgaatccggtcattgcatagg	10	12	1	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:100176425C>T	ENST00000414213.1	-	15	2162	c.1561G>A	c.(1561-1563)Gta>Ata	p.V521I	FRRS1_ENST00000287474.5_Missense_Mutation_p.V521I|FRRS1_ENST00000492943.1_5'Flank			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	521	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.V521I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGCCAGGCTACGAATCCGGTC	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000156869						98	85	90					1																	100176425		2203	4300	6503	FRRS1	SO:0001583	missense	0			-	HGNC	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1561G>A	1.37:g.100176425C>T	ENSP00000393884:p.Val521Ile	Somatic	0	71	0		0.566033689646954	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	122	12.23	A6NLN7	Missense_Mutation	SNP							pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.V521I	ENST00000414213.1	37	c.1561		1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698681	0.88830	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.61	5.61	0.85477	.	0.302981	0.29587	N	0.011729	T	0.67702	0.2921	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	P	0.59424	0.857	T	0.60520	-0.7247	9	0.17832	T	0.49	-26.8416	19.5966	0.95541	0.0:1.0:0.0:0.0	.	521	Q6ZNA5-2	.	I	521	.	ENSP00000287474:V521I	V	-	1	0	FRRS1	99949013	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	2.104000	0.41815	2.802000	0.96397	0.655000	0.94253	GTA	-	pfscan_Cyt_b561/ferric_Rdtase_TM		0.448	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	protein_coding		C	NM_001013660	-		100176425	-1	no_errors	ENST00000287474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100176425	C	T	100176425	3	4	93	1	0	0	0	0	1	0	0	0	6062	536	19	1	331	1	FRRS1	1	100176425	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	42641361	100176425	149074196	6	5191											
ZNF697	90874	genome.wustl.edu	37	chr1	120165569	120165569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcgcactggccacagCggaagggcttctcgccggtg	14	14	2	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:120165569C>T	ENST00000421812.2	-	3	1516	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CTGGCCACAGCGGAAGGGCTT	0.677																																																	0								ENSG00000143067						20	24	22					1																	120165569		2201	4299	6500	ZNF697	SO:0001583	missense	0			-	HGNC	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1397G>A	1.37:g.120165569C>T	ENSP00000396857:p.Arg466His	Somatic	0	32	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	Q96IT2	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R466H	ENST00000421812.2	37	c.1397	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	C	4.622	0.115676	0.08831	.	.	ENSG00000143067	ENST00000421812	T	0.18174	2.23	5.08	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.452476	0.16555	N	0.209316	T	0.03095	0.0091	L	0.28608	0.87	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.41124	-0.9526	10	0.48119	T	0.1	-9.1066	1.7979	0.03065	0.1622:0.4896:0.1577:0.1905	.	466	Q5TEC3	ZN697_HUMAN	H	466	ENSP00000396857:R466H	ENSP00000396857:R466H	R	-	2	0	ZNF697	119967092	0.000000	0.05858	0.996000	0.52242	0.020000	0.10135	-0.698000	0.05092	0.212000	0.20703	-0.311000	0.09066	CGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	protein_coding	OTTHUMT00000036349.3	C	XM_371286	-		120165569	-1	no_errors	ENST00000421812	ensembl	human	known	74_37	missense	SNP	0.313	T	T	120165569	C	T	120165569	3	4	93	1	0	0	0	0	1	0	0	0	18107	768	27	1	244	1	ZNF697	1	120165569	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	19989144	120165569	129085052	7	5192											
DENND4B	9909	genome.wustl.edu	37	chr1	153913520	153913520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgcaggaagctggCaccactgcaggcaatgccga	13	13	0	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:153913520C>T	ENST00000361217.4	-	9	1604	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	396	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGCTGGCACCACTGCAG	0.642																																																	0								ENSG00000198837						12	15	14					1																	153913520		2017	4148	6165	DENND4B	SO:0001583	missense	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1186G>A	1.37:g.153913520C>T	ENSP00000354597:p.Ala396Thr	Somatic	0	25	0		0.566033689646954	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5T4K0	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A396T	ENST00000361217.4	37	c.1186	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914016	0.92178	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.11604	2.76;2.76	4.11	4.11	0.48088	DENN (3);	0.135216	0.49305	D	0.000158	T	0.17066	0.0410	L	0.49513	1.565	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.01042	-1.1471	10	0.45353	T	0.12	-15.7731	15.6194	0.76793	0.0:1.0:0.0:0.0	.	396	O75064	DEN4B_HUMAN	T	396;407	ENSP00000354597:A396T;ENSP00000357635:A407T	ENSP00000354597:A396T	A	-	1	0	DENND4B	152180144	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.540000	0.82074	2.294000	0.77228	0.462000	0.41574	GCC	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	C	XM_375806	-		153913520	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153913520	C	T	153913520	3	4	93	1	0	0	0	0	1	0	0	0	4436	710	25	2	3384	2	DENND4B	1	153913520	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	33747951	153913520	95337101	8	5193											
MTX1	4580	genome.wustl.edu	37	chr1	155178611	155178611	+	Frame_Shift_Del	DEL	C	C	-													aaaacatgctgctcgggggaCccccccgcagtccccgctcg							TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:155178611delC	ENST00000368376.3	+	1	122	c.16delC	c.(16-18)cccfs	p.P7fs	RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000541990.1_5'Flank|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000486260.1_Intron|THBS3_ENST00000457183.2_5'Flank|MTX1_ENST00000609421.1_5'Flank|MTX1_ENST00000316721.4_Frame_Shift_Del_p.P7fs	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	7					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTCGGGGGACCCCCCCGCAG	0.697																																																	0								ENSG00000173171		,	6,13,3813		0,0,6,0,13,1897	6	9	8		,	3.3	1	1		8	12,29,7789		1,0,10,2,25,3877	no	codingComplex,codingComplex	MTX1	NM_198883.2,NM_002455.3	,	1,0,16,2,38,5774	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5236,0.4958,0.5145	,	,	155178611	18,42,11602	2069	4174	6243	MTX1	SO:0001589	frameshift_variant	0				HGNC		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.16delC	1.37:g.155178611delC	ENSP00000357360:p.Pro7fs	Somatic	0	13	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Frame_Shift_Del	DEL							pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like	p.R8fs	ENST00000368376.3	37	c.16	CCDS1100.1	1																																																																																			-	NULL		0.697	MTX1-001	KNOWN	basic|CCDS	protein_coding	MTX1	protein_coding	OTTHUMT00000086844.1	C	NM_198883			155178611	1	no_errors	ENST00000368376	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	155178611	C	-	155178611	7	5	93	1	0	1	0	1	0	0	0	0	9969	507	18	0	18	0	MTX1	1	155178611	Frame_Shift_Del	DEL	C	TCGA-DX-A7EU-01A-22D-A36J-09	1265091	155178611	94072010	9	5194											
KCNT2	343450	genome.wustl.edu	37	chr1	196309693	196309693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaacaccaatcaagcagaCgccaaaccttaatttaaaaa	3	12	1	1	rs200217178		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:196309693C>T	ENST00000294725.9	-	16	2476	c.1561G>A	c.(1561-1563)Gtc>Atc	p.V521I	KCNT2_ENST00000609185.1_Missense_Mutation_p.V471I|KCNT2_ENST00000367431.4_Missense_Mutation_p.V471I|KCNT2_ENST00000367433.5_Missense_Mutation_p.V521I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.V132I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	521	RCK N-terminal.				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)			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						ATCAAGCAGACGCCAAACCTT	0.294																																																	0								ENSG00000162687	C	ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	39	40	40		1561	5.9	1	1		40	0,8596		0,0,4298	yes	missense	KCNT2	NM_198503.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	521/1136	196309693	1,12995	2200	4298	6498	KCNT2	SO:0001583	missense	0			-	HGNC	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.1561G>A	1.37:g.196309693C>T	ENSP00000294725:p.Val521Ile	Somatic	0	33	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.V521I	ENST00000294725.9	37	c.1561	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.210989	0.58343	2.27E-4	0.0	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.48201	0.82;1.6;0.82;0.82	5.95	5.95	0.96441	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.56097	D	0.000022	T	0.52141	0.1716	L	0.45581	1.43	0.80722	D	1	P;B;P;P;P	0.47106	0.89;0.347;0.752;0.531;0.89	P;B;B;B;P	0.48524	0.58;0.107;0.147;0.131;0.58	T	0.29761	-1.0001	10	0.20046	T	0.44	-18.9426	20.3812	0.98933	0.0:1.0:0.0:0.0	.	521;503;521;471;521	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	I	521;471;342;132;521	ENSP00000356403:V521I;ENSP00000356401:V471I;ENSP00000405474:V132I;ENSP00000294725:V521I	ENSP00000294725:V521I	V	-	1	0	KCNT2	194576316	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.821000	0.97095	0.650000	0.86243	GTC	-	pfam_K_chnl_Ca-activ_BK_asu		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503	rs200217178		196309693	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196309693	C	T	196309693	3	4	93	1	0	0	0	0	1	0	0	0	8094	536	19	1	1898	1	KCNT2	1	196309693	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	41131082	196309693	52940928	10	5195											
ENAH	55740	genome.wustl.edu	37	chr1	225754957	225754957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtaaagccttacctgatgGtcctgaatcttcctgcccac	7	13	1	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:225754957G>T	ENST00000366844.3	-	2	616	c.165C>A	c.(163-165)gaC>gaA	p.D55E	ENAH_ENST00000284563.6_Missense_Mutation_p.D55E|ENAH_ENST00000366843.2_Missense_Mutation_p.D55E|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	55	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTACCTGATGGTCCTGAATCT	0.393																																																	0								ENSG00000154380						237	217	224					1																	225754957		2203	4300	6503	ENAH	SO:0001583	missense	0			-	HGNC	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.165C>A	1.37:g.225754957G>T	ENSP00000355809:p.Asp55Glu	Somatic	0	52	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP							pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.D55E	ENST00000366844.3	37	c.165	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117678	0.56505	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	D;D;T	0.98717	-5.09;-5.09;1.48	5.41	3.52	0.40303	EVH1 (3);Pleckstrin homology-type (1);Ran binding protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	M	0.87758	2.905	0.58432	D	0.999999	P;P	0.50156	0.917;0.932	P;D	0.65773	0.897;0.938	D	0.99651	1.0991	10	0.87932	D	0	-20.2985	5.5071	0.16860	0.3772:0.0:0.6227:0.0	.	55;55	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	E	55;55;55;54	ENSP00000355809:D55E;ENSP00000355808:D55E;ENSP00000284563:D55E	ENSP00000284563:D55E	D	-	3	2	ENAH	223821580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.176000	0.31957	1.417000	0.47077	-0.140000	0.14226	GAC	-	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1		0.393	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	protein_coding	OTTHUMT00000357426.2	G	NM_018212	-		225754957	-1	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	225754957	G	T	225754957	3	4	93	1	0	0	0	0	1	0	0	0	5113	1252	44	3	1666	3	ENAH	1	225754957	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	29445264	225754957	23495664	11	5196											
COG2	22796	genome.wustl.edu	37	chr1	230807385	230807385	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggaggtgccatctccAggtaatttaaacaaccctgt	8	11	2	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr1:230807385A>G	ENST00000366669.4	+	8	1013	c.898A>G	c.(898-900)Agt>Ggt	p.S300G	COG2_ENST00000366668.3_Splice_Site_p.S300G|COG2_ENST00000534989.1_Splice_Site_p.S241G|COG2_ENST00000535166.1_Splice_Site_p.S184G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	300					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGCCATCTCCAGGTAATTTAA	0.498																																																	0								ENSG00000135775						93	92	93					1																	230807385		2203	4300	6503	COG2	SO:0001630	splice_region_variant	0			-	HGNC	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.899+1A>G	1.37:g.230807385A>G		Somatic	0	68	0		0.566033689646954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q86U99	Missense_Mutation	SNP							pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.S300G	ENST00000366669.4	37	c.898	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913338	0.52439	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.79258	2.445	0.80722	D	1	P;B	0.37688	0.605;0.263	B;B	0.30401	0.115;0.112	T	0.19289	-1.0310	10	0.26408	T	0.33	-13.5721	14.8802	0.70528	1.0:0.0:0.0:0.0	.	300;300	Q86U99;Q14746	.;COG2_HUMAN	G	300;184;300;241	ENSP00000355629:S300G;ENSP00000445724:S184G;ENSP00000355628:S300G;ENSP00000440349:S241G	ENSP00000355628:S300G	S	+	1	0	COG2	228874008	1.000000	0.71417	0.973000	0.42090	0.368000	0.29767	9.316000	0.96319	1.923000	0.55706	0.460000	0.39030	AGT	-	NULL		0.498	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	protein_coding	OTTHUMT00000092087.1	A	NM_007357	-	Missense_Mutation	230807385	1	no_errors	ENST00000366669	ensembl	human	known	74_37	missense	SNP	1.000	G	G	230807385	A	G	230807385	5	3	93	1	0	0	0	0	0	0	1	0	3660	202	7	5	928	5	COG2	1	230807385	Splice_Site	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	5052428	230807385	18443236	12	5197											
GEN1	348654	genome.wustl.edu	37	chr2	17941359	17941359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgggcagcgtcatgaAgccccacctcaggtatagta	11	10	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr2:17941359A>T	ENST00000381254.2	+	2	363	c.149A>T	c.(148-150)aAg>aTg	p.K50M	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.K50M	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	50	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCGTCATGAAGCCCCACCTC	0.398								Homologous recombination																																									0								ENSG00000178295						85	83	84					2																	17941359		2203	4300	6503	GEN1	SO:0001583	missense	0			-	HGNC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.149A>T	2.37:g.17941359A>T	ENSP00000370653:p.Lys50Met	Somatic	0	79	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q17RS9|Q6ZN37	Missense_Mutation	SNP							pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.K50M	ENST00000381254.2	37	c.149	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798717	0.70567	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465;ENST00000532257	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.48	4.31	0.51392	XPG N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.76011	0.3928	M	0.70595	2.14	0.42547	D	0.993097	D	0.89917	1.0	D	0.83275	0.996	T	0.78976	-0.1991	10	0.87932	D	0	-22.858	11.6726	0.51411	0.9299:0.0:0.0701:0.0	.	50	Q17RS7	GEN_HUMAN	M	50	ENSP00000318977:K50M;ENSP00000370653:K50M;ENSP00000435143:K50M;ENSP00000433180:K50M	ENSP00000318977:K50M	K	+	2	0	GEN1	17804840	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.900000	0.75687	2.307000	0.77673	0.528000	0.53228	AAG	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N		0.398	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	protein_coding	OTTHUMT00000241661.2	A	NM_182625	-		17941359	1	no_errors	ENST00000317402	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17941359	A	T	17941359	3	4	93	1	0	0	0	0	1	0	0	0	6337	72	3	5	151	5	GEN1	2	17941359	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09		17941359	225258014	13	5198											
CAPN13	92291	genome.wustl.edu	37	chr2	31000431	31000431	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggaagatgttgcactcttAcctgcgcctccttgttggat	11	10	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr2:31000431A>T	ENST00000295055.8	-	3	448		c.e3+1		CAPN13_ENST00000465960.2_Splice_Site|CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTGCACTCTTACCTGCGCCTC	0.522																																																	0								ENSG00000162949						66	67	67					2																	31000431		1964	4153	6117	CAPN13	SO:0001630	splice_region_variant	0			-	HGNC		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.271+1T>A	2.37:g.31000431A>T		Somatic	0	61	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP							-	e2+2	ENST00000295055.8	37	c.271+2	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959973	0.34565	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1833	0.59668	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN13	30853935	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	6.620000	0.74224	2.064000	0.61679	0.533000	0.62120	.	-	-		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	protein_coding	OTTHUMT00000325101.2	A	NM_144575	-	Intron	31000431	-1	no_errors	ENST00000295055	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	31000431	A	T	31000431	5	4	93	1	0	0	0	0	0	0	1	0	2628	405	14	5	1816	5	CAPN13	2	31000431	Splice_Site	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	13059072	31000431	212198942	14	5199											
PPM1B	5495	genome.wustl.edu	37	chr2	44429142	44429142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggtatctgatgacctGgaaaatgtgtgcaattgggt	13	5	1	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr2:44429142G>A	ENST00000282412.4	+	2	1216	c.804G>A	c.(802-804)ctG>ctA	p.L268L	PPM1B_ENST00000409895.4_Silent_p.L268L|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000378551.2_Silent_p.L268L|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Silent_p.L268L	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	268					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGATGACCTGGAAAATGTGT	0.353																																																	0								ENSG00000138032						106	103	104					2																	44429142		2203	4300	6503	PPM1B	SO:0001819	synonymous_variant	0			-	HGNC	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.804G>A	2.37:g.44429142G>A		Somatic	0	32	0		0.566033689646954	63	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP							pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom	p.L268	ENST00000282412.4	37	c.804	CCDS1817.1	2																																																																																			-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.353	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	protein_coding	OTTHUMT00000250672.1	G	NM_002706	-		44429142	1	no_errors	ENST00000282412	ensembl	human	known	74_37	silent	SNP	1.000	A	A	44429142	G	A	44429142	2	1	93	1	0	0	0	0	0	0	0	1	12341	1335	47	2		2	PPM1B	2	44429142	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	13428711	44429142	198770231	15	5200											
POPDC2	64091	genome.wustl.edu	37	chr3	119367292	119367292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctggtccagcatctgcaGcagtgggacccaggacatgg	13	12	2	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr3:119367292G>T	ENST00000264231.3	-	3	990	c.824C>A	c.(823-825)gCt>gAt	p.A275D	POPDC2_ENST00000538678.1_Missense_Mutation_p.A275D|POPDC2_ENST00000468801.1_Missense_Mutation_p.A275D|POPDC2_ENST00000493094.1_Missense_Mutation_p.A275D|POPDC2_ENST00000474523.1_5'UTR	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	275					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGCATCTGCAGCAGTGGGACC	0.567																																																	0								ENSG00000121577						107	102	104					3																	119367292		2203	4300	6503	POPDC2	SO:0001583	missense	0			-	HGNC	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.824C>A	3.37:g.119367292G>T	ENSP00000264231:p.Ala275Asp	Somatic	0	28	0		0.566033689646954	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q86UE7	Missense_Mutation	SNP							pfam_Popeye_prot,superfamily_cNMP-bd-like	p.A275D	ENST00000264231.3	37	c.824	CCDS2992.1	3	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193204	0.22037	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.18338	2.24;2.24;2.22;2.22	5.08	4.15	0.48705	.	0.343284	0.31381	N	0.007741	T	0.19167	0.0460	M	0.61703	1.905	0.27696	N	0.945964	P;P	0.39782	0.688;0.611	B;B	0.42692	0.395;0.196	T	0.06752	-1.0809	10	0.11794	T	0.64	.	9.7889	0.40692	0.0:0.1385:0.6671:0.1945	.	275;275	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	D	275	ENSP00000264231:A275D;ENSP00000417250:A275D;ENSP00000420715:A275D;ENSP00000438271:A275D	ENSP00000264231:A275D	A	-	2	0	POPDC2	120849982	0.998000	0.40836	0.006000	0.13384	0.147000	0.21601	6.903000	0.75703	1.184000	0.42957	0.561000	0.74099	GCT	-	NULL		0.567	POPDC2-002	KNOWN	basic|CCDS	protein_coding	POPDC2	protein_coding	OTTHUMT00000355378.1	G	NM_022135	-		119367292	-1	no_errors	ENST00000341124	ensembl	human	known	74_37	missense	SNP	0.714	T	T	119367292	G	T	119367292	3	4	93	1	0	0	0	0	1	0	0	0	12257	971	34	3	278	3	POPDC2	3	119367292	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		119367292	78655138	16	5201											
DNAJC13	23317	genome.wustl.edu	37	chr3	132175605	132175605	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttcaaatgcggaacttgaGagtcagttccaggctgtgag	13	8	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr3:132175605G>T	ENST00000260818.6	+	12	1526	c.1278G>T	c.(1276-1278)gaG>gaT	p.E426D	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	426					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CGGAACTTGAGAGTCAGTTCC	0.443																																																	0								ENSG00000138246						100	96	98					3																	132175605		2203	4300	6503	DNAJC13	SO:0001583	missense	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1278G>T	3.37:g.132175605G>T	ENSP00000260818:p.Glu426Asp	Somatic	0	29	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.E426D	ENST00000260818.6	37	c.1278	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091065	0.76756	.	.	ENSG00000138246	ENST00000260818	T	0.41065	1.01	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.82923	2.615	0.58432	D	0.999991	D;D;P	0.69078	0.986;0.997;0.956	P;D;D	0.65010	0.873;0.921;0.931	T	0.65957	-0.6042	10	0.62326	D	0.03	.	7.6819	0.28518	0.1918:0.0:0.8082:0.0	.	426;93;426	A7E2Y5;Q8N7A5;O75165	.;.;DJC13_HUMAN	D	426	ENSP00000260818:E426D	ENSP00000260818:E426D	E	+	3	2	DNAJC13	133658295	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.822000	0.48073	2.778000	0.95560	0.655000	0.94253	GAG	-	NULL		0.443	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	G	NM_015268	-		132175605	1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132175605	G	T	132175605	3	4	93	1	0	0	0	0	1	0	0	0	4634	933	33	3	1320	3	DNAJC13	3	132175605	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	12808313	132175605	65846825	17	5202											
SOX14	8403	genome.wustl.edu	37	chr3	137484304	137484304	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttcccaggcatgaccaaGactggcatagacccttattc	7	14	1	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr3:137484304G>T	ENST00000306087.1	+	1	726	c.678G>T	c.(676-678)aaG>aaT	p.K226N		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	226					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						GCATGACCAAGACTGGCATAG	0.642																																																	0								ENSG00000168875						52	41	45					3																	137484304		2197	4286	6483	SOX14	SO:0001583	missense	0			-	HGNC	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.678G>T	3.37:g.137484304G>T	ENSP00000305343:p.Lys226Asn	Somatic	0	51	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	B2RAC0|Q3KPH7	Missense_Mutation	SNP							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K226N	ENST00000306087.1	37	c.678	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297926	0.60086	.	.	ENSG00000168875	ENST00000306087	D	0.97642	-4.47	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	N	0.24115	0.695	0.48975	D	0.999731	D	0.67145	0.996	P	0.59487	0.858	D	0.95611	0.8672	10	0.87932	D	0	.	10.9624	0.47393	0.0861:0.0:0.9139:0.0	.	226	O95416	SOX14_HUMAN	N	226	ENSP00000305343:K226N	ENSP00000305343:K226N	K	+	3	2	SOX14	138966994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.333000	0.79357	0.561000	0.74099	AAG	-	NULL		0.642	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	protein_coding	OTTHUMT00000357182.1	G	NM_004189	-		137484304	1	no_errors	ENST00000306087	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137484304	G	T	137484304	3	4	93	1	0	0	0	0	1	0	0	0	14953	933	33	3	680	3	SOX14	3	137484304	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	5308699	137484304	60538126	18	5203											
SLIT2	9353	genome.wustl.edu	37	chr4	20525452	20525452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctccacaacttgaacctTctctccctatatgacaacaa	3	14	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr4:20525452T>C	ENST00000504154.1	+	13	1452	c.1200T>C	c.(1198-1200)ctT>ctC	p.L400L	SLIT2_ENST00000503837.1_Silent_p.L404L|SLIT2_ENST00000503823.1_Silent_p.L400L|SLIT2_ENST00000273739.5_Silent_p.L404L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	400					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTTGAACCTTCTCTCCCTAT	0.393																																																	0								ENSG00000145147						170	160	164					4																	20525452		2203	4300	6503	SLIT2	SO:0001819	synonymous_variant	0			-	HGNC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1200T>C	4.37:g.20525452T>C		Somatic	0	57	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L400	ENST00000504154.1	37	c.1200	CCDS3426.1	4																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.393	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	T		-		20525452	1	no_errors	ENST00000504154	ensembl	human	known	74_37	silent	SNP	0.992	C	C	20525452	T	C	20525452	2	2	93	1	0	0	0	0	0	0	0	1	14748	1770	62	5		5	SLIT2	4	20525452	Silent	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09		20525452	170628824	19	5204											
SHROOM3	57619	genome.wustl.edu	37	chr4	77662897	77662897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcggggacctgcttagcGgagcaaacggtggaacaagg	17	9	0	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr4:77662897G>A	ENST00000296043.6	+	5	4524	c.3571G>A	c.(3571-3573)Gga>Aga	p.G1191R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1191					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTGCTTAGCGGAGCAAACGG	0.697																																																	0								ENSG00000138771						5	5	5					4																	77662897		2123	4134	6257	SHROOM3	SO:0001583	missense	0			-	HGNC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3571G>A	4.37:g.77662897G>A	ENSP00000296043:p.Gly1191Arg	Somatic	0	14	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1191R	ENST00000296043.6	37	c.3571	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225606	0.22542	.	.	ENSG00000138771	ENST00000296043	T	0.20332	2.08	4.82	3.91	0.45181	.	1.135820	0.06690	N	0.769498	T	0.28433	0.0703	M	0.71581	2.175	0.09310	N	1	D;D;D	0.64830	0.994;0.994;0.994	B;P;B	0.46543	0.419;0.52;0.419	T	0.10800	-1.0614	10	0.11794	T	0.64	-5.2102	9.5112	0.39078	0.0:0.0:0.7897:0.2103	.	1015;1191;969	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	R	1191	ENSP00000296043:G1191R	ENSP00000296043:G1191R	G	+	1	0	SHROOM3	77881921	0.689000	0.27690	0.027000	0.17364	0.010000	0.07245	1.180000	0.32005	2.211000	0.71520	0.561000	0.74099	GGA	-	NULL		0.697	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	G	NM_020859	-		77662897	1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	SNP	0.002	A	A	77662897	G	A	77662897	3	1	93	1	0	0	0	0	1	0	0	0	14303	1117	39	1	3589	1	SHROOM3	4	77662897	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	57137445	77662897	113491379	20	5205											
WRNIP1	56897	genome.wustl.edu	37	chr6	2770457	2770457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctcttctgagccgctgtcGagtgattgttcttgagaagc	12	9	3	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr6:2770457G>T	ENST00000380773.4	+	3	1327	c.1118G>T	c.(1117-1119)cGa>cTa	p.R373L	WRNIP1_ENST00000380771.4_Missense_Mutation_p.R348L|WRNIP1_ENST00000380769.4_Missense_Mutation_p.R153L|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGCCGCTGTCGAGTGATTGTT	0.517																																																	0								ENSG00000124535						141	123	129					6																	2770457		2203	4300	6503	WRNIP1	SO:0001583	missense	0			-	HGNC	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1118G>T	6.37:g.2770457G>T	ENSP00000370150:p.Arg373Leu	Somatic	0	57	0		0.566033689646954	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Missense_Mutation	SNP							pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.R373L	ENST00000380773.4	37	c.1118	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.790955	0.96945	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769	D;T;D	0.92805	-3.11;1.02;-3.11	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.049773	0.85682	D	0.000000	D	0.93743	0.8000	L	0.48174	1.505	0.80722	D	1	D;P	0.63046	0.992;0.903	D;P	0.63033	0.91;0.836	D	0.93764	0.7069	10	0.87932	D	0	-17.4618	19.6125	0.95613	0.0:0.0:1.0:0.0	.	348;373	Q96S55-2;Q96S55	.;WRIP1_HUMAN	L	373;348;153	ENSP00000370150:R373L;ENSP00000370148:R348L;ENSP00000370146:R153L	ENSP00000370146:R153L	R	+	2	0	WRNIP1	2715456	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.794000	0.85869	2.879000	0.98667	0.650000	0.86243	CGA	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.517	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	protein_coding	OTTHUMT00000039641.1	G	NM_130395	-		2770457	1	no_errors	ENST00000380773	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2770457	G	T	2770457	3	4	93	1	0	0	0	0	1	0	0	0	17410	1058	37	3	1128	3	WRNIP1	6	2770457	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		2770457	168344610	21	5206											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62604721	62604721	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtggtgggggaggaggaAtggcacccccacggccccta	17	12	0	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr6:62604721A>T	ENST00000281156.4	-	6	907	c.629T>A	c.(628-630)aTt>aAt	p.I210N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGAGGAGGAATGGCACCCCC	0.542																																																	0								ENSG00000112232						32	35	34					6																	62604721		2203	4300	6503	KHDRBS2	SO:0001583	missense	0			-	HGNC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.629T>A	6.37:g.62604721A>T	ENSP00000281156:p.Ile210Asn	Somatic	0	55	0		0.566033689646954	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.I210N	ENST00000281156.4	37	c.629	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031654	0.35797	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.46451	0.87	5.52	5.52	0.82312	.	0.871864	0.10380	N	0.681665	T	0.12774	0.0310	N	0.08118	0	0.35683	D	0.814218	B	0.32160	0.358	B	0.26517	0.07	T	0.08289	-1.0729	10	0.28530	T	0.3	-2.3538	15.9239	0.79597	1.0:0.0:0.0:0.0	.	210	Q5VWX1	KHDR2_HUMAN	N	210	ENSP00000281156:I210N	ENSP00000281156:I210N	I	-	2	0	KHDRBS2	62662680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.463000	0.60128	2.207000	0.71202	0.533000	0.62120	ATT	-	NULL		0.542	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	protein_coding	OTTHUMT00000041066.2	A	NM_152688	-		62604721	-1	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62604721	A	T	62604721	3	4	93	1	0	0	0	0	1	0	0	0	8149	101	4	5	436	5	KHDRBS2	6	62604721	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	59834264	62604721	108510346	22	5207											
ASCC3	10973	genome.wustl.edu	37	chr6	101253758	101253758	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagcagttcaaatagcTtataaaaagagaaaaaagta	7	6	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr6:101253758T>A	ENST00000369162.2	-	5	1146		c.e5-2		ASCC3_ENST00000522650.1_Splice_Site	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCAAATAGCTTATAAAAAGA	0.308																																																	0								ENSG00000112249						41	42	42					6																	101253758		2200	4295	6495	ASCC3	SO:0001630	splice_region_variant	0			-	HGNC	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.802-2A>T	6.37:g.101253758T>A		Somatic	0	34	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Splice_Site	SNP							-	e4-2	ENST00000369162.2	37	c.802-2	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508781	0.64410	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0295	0.71696	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASCC3	101360479	1.000000	0.71417	0.963000	0.40424	0.767000	0.43475	6.168000	0.71908	2.010000	0.58986	0.383000	0.25322	.	-	-		0.308	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	protein_coding	OTTHUMT00000041632.2	T	NM_006828	-	Intron	101253758	-1	no_errors	ENST00000369162	ensembl	human	known	74_37	splice_site	SNP	0.999	A	A	101253758	T	A	101253758	5	1	93	1	0	0	0	0	0	0	1	0	1033	1623	56	5	5960	5	ASCC3	6	101253758	Splice_Site	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09	38649037	101253758	69861309	23	5208											
PLG	5340	genome.wustl.edu	37	chr6	161139335	161139335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccattcaagcaacacctcCaccatcttctggtcccacct	4	19	3	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr6:161139335C>A	ENST00000308192.9	+	8	860	c.797C>A	c.(796-798)cCa>cAa	p.P266Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	266					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)	GCAACACCTCCACCATCTTCT	0.507																																																	0								ENSG00000122194						102	94	96					6																	161139335		2203	4300	6503	PLG	SO:0001583	missense	0			-	HGNC	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.797C>A	6.37:g.161139335C>A	ENSP00000308938:p.Pro266Gln	Somatic	0	31	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP							pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.P266Q	ENST00000308192.9	37	c.797	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247179	0.39697	.	.	ENSG00000122194	ENST00000308192	T	0.62364	0.03	5.11	4.24	0.50183	Kringle-like fold (1);	0.000000	0.39083	U	0.001471	T	0.52322	0.1727	M	0.76433	2.335	0.47737	D	0.999509	P	0.44380	0.834	B	0.41917	0.37	T	0.62263	-0.6891	10	0.72032	D	0.01	.	12.7007	0.57032	0.0:0.918:0.0:0.082	.	266	P00747	PLMN_HUMAN	Q	266	ENSP00000308938:P266Q	ENSP00000308938:P266Q	P	+	2	0	PLG	161059325	0.969000	0.33509	0.010000	0.14722	0.199000	0.23934	2.188000	0.42612	1.275000	0.44379	0.591000	0.81541	CCA	-	pirsf_Pept_S1A_plasmin,superfamily_Kringle-like		0.507	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	protein_coding	OTTHUMT00000042959.2	C	NM_000301	-		161139335	1	no_errors	ENST00000308192	ensembl	human	known	74_37	missense	SNP	0.475	A	A	161139335	C	A	161139335	3	1	93	1	0	0	0	0	1	0	0	0	12088	594	21	3	831	3	PLG	6	161139335	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	59885577	161139335	9975732	24	5209											
LMTK2	22853	genome.wustl.edu	37	chr7	97770732	97770732	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagataattttgatgaTgagatagatttcacaccacc	7	6	1	6			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr7:97770732T>C	ENST00000297293.5	+	3	548	c.255T>C	c.(253-255)gaT>gaC	p.D85D	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	85					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATTTTGATGATGAGATAGATT	0.383																																																	0								ENSG00000164715						123	123	123					7																	97770732		2203	4300	6503	LMTK2	SO:0001819	synonymous_variant	0			-	HGNC	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.255T>C	7.37:g.97770732T>C		Somatic	0	25	0		0.566033689646954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A4D272|Q75MG7|Q9UPS3	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D85	ENST00000297293.5	37	c.255	CCDS5654.1	7																																																																																			-	NULL		0.383	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	protein_coding	OTTHUMT00000334560.1	T	NM_014916	-		97770732	1	no_errors	ENST00000297293	ensembl	human	known	74_37	silent	SNP	1.000	C	C	97770732	T	C	97770732	2	2	93	1	0	0	0	0	0	0	0	1	8861	1461	51	5		5	LMTK2	7	97770732	Silent	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09		97770732	61367931	25	5210											
C8orf80	389643	genome.wustl.edu	37	chr8	27884481	27884481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctttggcgtatttacctGcaagctccttgtagaggcca	10	10	0	1	rs368238162		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr8:27884481G>A	ENST00000413272.2	-	18	2385	c.2243C>T	c.(2242-2244)gCa>gTa	p.A748V	NUGGC_ENST00000341513.6_Missense_Mutation_p.A748V	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	748					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)										GTATTTACCTGCAAGCTCCTT	0.473																																																	0								ENSG00000189233	G	VAL/ALA	1,3943		0,1,1971	148	148	148		2243	5.8	1	8		148	0,8298		0,0,4149	no	missense	C8orf80	NM_001010906.1	64	0,1,6120	AA,AG,GG		0.0,0.0254,0.0082	benign	748/797	27884481	1,12241	1972	4149	6121	NUGGC	SO:0001583	missense	0			-	HGNC	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.2243C>T	8.37:g.27884481G>A	ENSP00000408697:p.Ala748Val	Somatic	0	42	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6ZP73	Missense_Mutation	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.A748V	ENST00000413272.2	37	c.2243	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710529	0.68730	2.54E-4	0.0	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13901	2.55;2.55	5.8	5.8	0.92144	.	0.377447	0.25202	N	0.032379	T	0.11110	0.0271	N	0.24115	0.695	0.34669	D	0.723515	B	0.22346	0.068	B	0.15870	0.014	T	0.12941	-1.0528	10	0.36615	T	0.2	-19.1885	15.5707	0.76333	0.0:0.0:1.0:0.0	.	748	Q68CJ6	SLIP_HUMAN	V	748	ENSP00000408697:A748V;ENSP00000345031:A748V	ENSP00000345031:A748V	A	-	2	0	C8orf80	27940400	1.000000	0.71417	0.983000	0.44433	0.963000	0.63663	3.236000	0.51336	2.744000	0.94065	0.655000	0.94253	GCA	-	NULL		0.473	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	protein_coding	OTTHUMT00000342494.1	G	NM_001010906	-		27884481	-1	no_errors	ENST00000341513	ensembl	human	known	74_37	missense	SNP	0.979	A	A	27884481	G	A	27884481	3	1	93	1	0	0	0	0	1	0	0	0	2441	1319	46	2	155	2	C8orf80	8	27884481	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		27884481	118479541	26	5211											
WRN	7486	genome.wustl.edu	37	chr8	31014958	31014958	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccaagcggtgaaagctggCtgcccccttgatttggagcg	13	12	0	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr8:31014958C>G	ENST00000298139.5	+	33	4143	c.3894C>G	c.(3892-3894)ggC>ggG	p.G1298G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1298					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)		TGAAAGCTGGCTGCCCCCTTG	0.507			"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)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								ENSG00000165392						79	71	74					8																	31014958		2203	4300	6503	WRN	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria	-	HGNC		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.3894C>G	8.37:g.31014958C>G		Somatic	0	30	0		0.566033689646954	8	11.11	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A1KYY9	Silent	SNP							pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.G1298	ENST00000298139.5	37	c.3894	CCDS6082.1	8																																																																																			-	NULL		0.507	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	C		-		31014958	1	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	SNP	1.000	G	G	31014958	C	G	31014958	2	3	93	1	0	0	0	0	0	0	0	1	17409	784	28	4		4	WRN	8	31014958	Silent	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	3130477	31014958	115349064	27	5212											
KCNV2	169522	genome.wustl.edu	37	chr9	2717764	2717764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacagagtgagaggagaCggtcctggagctacaggccc	14	10	1	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr9:2717764C>T	ENST00000382082.3	+	1	263	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	9					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGAGAGGAGACGGTCCTGGAG	0.617																																																	0								ENSG00000168263						69	72	71					9																	2717764		2203	4300	6503	KCNV2	SO:0001583	missense	0			-	HGNC	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.25C>T	9.37:g.2717764C>T	ENSP00000371514:p.Arg9Trp	Somatic	0	51	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	41	42.25	Q5T6X0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R9W	ENST00000382082.3	37	c.25	CCDS6447.1	9	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944201	0.18356	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.97016	-4.21	4.92	-0.82	0.10826	.	0.515173	0.14541	N	0.313265	D	0.88742	0.6519	N	0.17082	0.46	0.09310	N	1	B	0.19935	0.04	B	0.12837	0.008	T	0.79607	-0.1733	10	0.42905	T	0.14	.	3.5863	0.07972	0.2855:0.3403:0.295:0.0791	.	9	Q8TDN2	KCNV2_HUMAN	W	9	ENSP00000371514:R9W	ENSP00000371514:R9W	R	+	1	2	KCNV2	2707764	0.000000	0.05858	0.787000	0.31911	0.822000	0.46500	-0.453000	0.06778	-0.019000	0.14055	0.467000	0.42956	CGG	-	NULL		0.617	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	protein_coding	OTTHUMT00000051528.1	C	NM_133497	-		2717764	1	no_errors	ENST00000382082	ensembl	human	known	74_37	missense	SNP	0.005	T	T	2717764	C	T	2717764	3	4	93	1	0	0	0	0	1	0	0	0	8097	527	19	1	27	1	KCNV2	9	2717764	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09		2717764	138495667	28	5213											
C9orf125	84302	genome.wustl.edu	37	chr9	104238794	104238794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagggatgactccaggCaatagacatagtcctgcttc	10	11	1	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr9:104238794C>A	ENST00000374851.1	-	4	1728	c.581G>T	c.(580-582)tGc>tTc	p.C194F	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.C194F|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.C194F			Q9BRR3	TM246_HUMAN	transmembrane protein 246	194						integral component of membrane (GO:0016021)											TGACTCCAGGCAATAGACATA	0.502																																																	0								ENSG00000165152						99	79	86					9																	104238794		2203	4300	6503	TMEM246	SO:0001583	missense	0			-	HGNC	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.581G>T	9.37:g.104238794C>A	ENSP00000363984:p.Cys194Phe	Somatic	0	34	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	Q49AQ4	Missense_Mutation	SNP							NULL	p.C194F	ENST00000374851.1	37	c.581	CCDS6757.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187044	0.78789	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77720	-0.2482	9	0.66056	D	0.02	-26.8896	19.3614	0.94440	0.0:1.0:0.0:0.0	.	194	Q9BRR3	CI125_HUMAN	F	194	.	ENSP00000363980:C194F	C	-	2	0	C9orf125	103278615	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.541000	0.82084	2.809000	0.96659	0.650000	0.86243	TGC	-	NULL		0.502	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	protein_coding	OTTHUMT00000053444.1	C	NM_032342	-		104238794	-1	no_errors	ENST00000374847	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104238794	C	A	104238794	3	1	93	1	0	0	0	0	1	0	0	0	2456	710	25	3	634	3	C9orf125	9	104238794	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	101521030	104238794	36974637	29	5214											
C9orf7	11094	genome.wustl.edu	37	chr9	136330517	136330517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtttgcaaacacagtgGcggagaaggtggaccggctg	16	8	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr9:136330517G>T	ENST00000316948.4	+	3	348	c.268G>T	c.(268-270)Gcg>Tcg	p.A90S	CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000542192.1_Intron|CACFD1_ENST00000540581.1_Missense_Mutation_p.A90S|CACFD1_ENST00000291722.7_Intron	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	90					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										AAACACAGTGGCGGAGAAGGT	0.602																																																	0								ENSG00000160325						121	112	115					9																	136330517		2203	4300	6503	CACFD1	SO:0001583	missense	0			-	HGNC		CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"chromosome 9 open reading frame 7"	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.268G>T	9.37:g.136330517G>T	ENSP00000317121:p.Ala90Ser	Somatic	0	32	0		0.566033689646954	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Missense_Mutation	SNP							pfam_TVP18/Ca-channel_flower	p.A90S	ENST00000316948.4	37	c.268	CCDS6974.1	9	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696898	0.30142	.	.	ENSG00000160325	ENST00000535514;ENST00000316948;ENST00000540581;ENST00000444798	T;T;T	0.42900	0.96;0.96;0.96	5.35	3.42	0.39159	Membrane protein, Golgi apparatus TVP18/Calcium channel flower (1);	0.172324	0.50627	N	0.000102	T	0.26048	0.0635	N	0.21448	0.665	0.80722	D	1	B;B	0.29136	0.234;0.022	B;B	0.26202	0.067;0.023	T	0.03231	-1.1058	10	0.09590	T	0.72	-20.7265	13.2976	0.60307	0.0:0.0:0.4677:0.5323	.	90;90	F5GXX4;Q9UGQ2	.;FLOWR_HUMAN	S	80;90;90;62	ENSP00000317121:A90S;ENSP00000440832:A90S;ENSP00000414495:A62S	ENSP00000317121:A90S	A	+	1	0	C9orf7	135320338	1.000000	0.71417	0.594000	0.28785	0.974000	0.67602	3.296000	0.51802	0.568000	0.29311	0.491000	0.48974	GCG	-	pfam_TVP18/Ca-channel_flower		0.602	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACFD1	protein_coding	OTTHUMT00000054915.1	G	NM_017586	-		136330517	1	no_errors	ENST00000540581	ensembl	human	known	74_37	missense	SNP	0.969	T	T	136330517	G	T	136330517	3	4	93	1	0	0	0	0	1	0	0	0	2495	1203	42	3	278	3	C9orf7	9	136330517	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	32091723	136330517	4882914	30	5215											
SFMBT2	57713	genome.wustl.edu	37	chr10	7214483	7214483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcccgcggtgaagtccaCggcagaagacctccgtttct	12	14	1	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:7214483C>T	ENST00000361972.4	-	18	2215	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.V709M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	709					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTGAAGTCCACGGCAGAAGAC	0.632																																																	0								ENSG00000198879						46	45	45					10																	7214483		2203	4300	6503	SFMBT2	SO:0001583	missense	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2125G>A	10.37:g.7214483C>T	ENSP00000355109:p.Val709Met	Somatic	0	70	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A7MD09|Q9HCF5	Missense_Mutation	SNP							pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.V709M	ENST00000361972.4	37	c.2125	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962926	0.34659	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.18960	2.18;2.18	5.37	1.29	0.21616	.	0.404999	0.26753	N	0.022671	T	0.18964	0.0455	M	0.65498	2.005	0.28769	N	0.900481	B	0.19583	0.037	B	0.15870	0.014	T	0.13548	-1.0505	10	0.46703	T	0.11	.	5.0579	0.14542	0.1319:0.5123:0.0:0.3558	.	709	Q5VUG0	SMBT2_HUMAN	M	709	ENSP00000355109:V709M;ENSP00000380353:V709M	ENSP00000355109:V709M	V	-	1	0	SFMBT2	7254489	0.473000	0.25878	0.001000	0.08648	0.031000	0.12232	0.969000	0.29370	-0.025000	0.13918	-0.439000	0.05793	GTG	-	superfamily_ARM-type_fold		0.632	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	C	NM_001029880	-		7214483	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	0.289	T	T	7214483	C	T	7214483	3	4	93	1	0	0	0	0	1	0	0	0	14166	536	19	1	575	1	SFMBT2	10	7214483	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09		7214483	128320264	31	5216											
UPF2	26019	genome.wustl.edu	37	chr10	11997274	11997274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttttcgtttactggaaCctctgtcaaagtactggcca	8	10	2	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:11997274C>T	ENST00000356352.2	-	13	3280	c.2807G>A	c.(2806-2808)gGt>gAt	p.G936D	UPF2_ENST00000397053.2_Missense_Mutation_p.G936D|UPF2_ENST00000357604.5_Missense_Mutation_p.G936D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	936	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTTACTGGAACCTCTGTCAAA	0.388																																																	0								ENSG00000151461						61	55	57					10																	11997274		2203	4300	6503	UPF2	SO:0001583	missense	0			-	HGNC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2807G>A	10.37:g.11997274C>T	ENSP00000348708:p.Gly936Asp	Somatic	0	76	0		0.566033689646954	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.G936D	ENST00000356352.2	37	c.2807	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661096	0.88154	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.20881	2.04;2.04;2.04	4.6	4.6	0.57074	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.62186	-0.6907	10	0.56958	D	0.05	.	17.764	0.88471	0.0:1.0:0.0:0.0	.	936	Q9HAU5	RENT2_HUMAN	D	936	ENSP00000348708:G936D;ENSP00000350221:G936D;ENSP00000380244:G936D	ENSP00000348708:G936D	G	-	2	0	UPF2	12037280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.263000	0.75096	0.591000	0.81541	GGT	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.388	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	protein_coding	OTTHUMT00000046783.1	C		-		11997274	-1	no_errors	ENST00000356352	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11997274	C	T	11997274	3	4	93	1	0	0	0	0	1	0	0	0	17011	507	18	2	1047	2	UPF2	10	11997274	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	4782791	11997274	123537473	32	5217											
FAM171A1	221061	genome.wustl.edu	37	chr10	15256356	15256356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgagcatgggggtgtGcaggtccccttcgccgcccg	16	13	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:15256356G>T	ENST00000378116.4	-	8	1237	c.1231C>A	c.(1231-1233)Cac>Aac	p.H411N	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	411						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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						ATGGGGGTGTGCAGGTCCCCT	0.602																																																	0								ENSG00000148468						59	64	62					10																	15256356		2203	4300	6503	FAM171A1	SO:0001583	missense	0			-	HGNC	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.1231C>A	10.37:g.15256356G>T	ENSP00000367356:p.His411Asn	Somatic	0	40	0		0.566033689646954	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP							pfam_Uncharacterised_FAM171	p.H411N	ENST00000378116.4	37	c.1231	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388848	0.42308	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30182	1.54	5.14	5.14	0.70334	.	0.104537	0.64402	D	0.000003	T	0.35008	0.0917	L	0.57536	1.79	0.49213	D	0.999762	P	0.47191	0.891	P	0.45753	0.492	T	0.03576	-1.1023	10	0.32370	T	0.25	-35.1655	13.1337	0.59397	0.0762:0.0:0.9238:0.0	.	411	Q5VUB5	F1711_HUMAN	N	411;412	ENSP00000367356:H411N	ENSP00000367356:H411N	H	-	1	0	FAM171A1	15296362	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.752000	0.68728	2.667000	0.90743	0.563000	0.77884	CAC	-	pfam_Uncharacterised_FAM171		0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	protein_coding	OTTHUMT00000046984.1	G	XM_167709	-		15256356	-1	no_errors	ENST00000378116	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15256356	G	T	15256356	3	4	93	1	0	0	0	0	1	0	0	0	5492	1319	46	3	1445	3	FAM171A1	10	15256356	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	3259082	15256356	120278391	33	5218											
OGDHL	55753	genome.wustl.edu	37	chr10	50953842	50953842	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcagtccccagacccAccaggtccacgacaacatct	7	18	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:50953842A>G	ENST00000374103.4	-	11	1562		c.e11+1		OGDHL_ENST00000419399.1_Splice_Site|OGDHL_ENST00000432695.1_Splice_Site	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like						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						CCCCAGACCCACCAGGTCCAC	0.562																																																	0								ENSG00000197444						104	80	88					10																	50953842		2203	4300	6503	OGDHL	SO:0001630	splice_region_variant	0			-	HGNC	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.1476+1T>C	10.37:g.50953842A>G		Somatic	0	30	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Splice_Site	SNP							-	e10+2	ENST00000374103.4	37	c.1476+2	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	A	21.3	4.136096	0.77662	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5531	0.76170	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OGDHL	50623848	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.288000	0.96055	2.142000	0.66516	0.533000	0.62120	.	-	-		0.562	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	A	NM_018245	-	Intron	50953842	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	50953842	A	G	50953842	5	3	93	1	0	0	0	0	0	0	1	0	10842	173	6	5	1606	5	OGDHL	10	50953842	Splice_Site	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	35697486	50953842	84580905	34	5219											
UNC5B	219699	genome.wustl.edu	37	chr10	73044578	73044578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgtggcctggagctccGcgggcaccaccaagagtcgc	15	14	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:73044578G>A	ENST00000335350.6	+	3	822	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A136T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	136	Ig-like.				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						CTGGAGCTCCGCGGGCACCAC	0.672																																																	0								ENSG00000107731						80	75	77					10																	73044578		2203	4300	6503	UNC5B	SO:0001583	missense	0			-	HGNC	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.406G>A	10.37:g.73044578G>A	ENSP00000334329:p.Ala136Thr	Somatic	0	25	0		0.566033689646954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP							pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.A136T	ENST00000335350.6	37	c.406	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402100	0.83230	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.23552	1.9;1.9	4.82	2.83	0.33086	Immunoglobulin-like fold (1);	0.170003	0.51477	D	0.000085	T	0.25827	0.0629	L	0.46741	1.465	0.58432	D	0.999998	D;P	0.54964	0.969;0.948	P;B	0.46320	0.512;0.434	T	0.01688	-1.1295	10	0.21540	T	0.41	-12.1871	13.0513	0.58957	0.0:0.0:0.6997:0.3003	.	136;136	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	136	ENSP00000334329:A136T;ENSP00000362288:A136T	ENSP00000334329:A136T	A	+	1	0	UNC5B	72714584	1.000000	0.71417	0.184000	0.23157	0.899000	0.52679	5.639000	0.67868	0.359000	0.24239	0.555000	0.69702	GCG	-	smart_Ig_sub		0.672	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	G	NM_170744	-		73044578	1	no_errors	ENST00000335350	ensembl	human	known	74_37	missense	SNP	0.987	A	A	73044578	G	A	73044578	3	1	93	1	0	0	0	0	1	0	0	0	16999	1087	38	1	416	1	UNC5B	10	73044578	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	22090736	73044578	62490169	35	5220											
TNKS2	80351	genome.wustl.edu	37	chr10	93576932	93576932	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccaaccatccgaaatacaGatggaaggacagcattggat	10	9	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:93576932G>T	ENST00000371627.4	+	3	845	c.466G>T	c.(466-468)Gat>Tat	p.D156Y		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	156					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CCGAAATACAGATGGAAGGAC	0.403																																																	0								ENSG00000107854						95	76	83					10																	93576932		2203	4300	6503	TNKS2	SO:0001583	missense	0			-	HGNC	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.466G>T	10.37:g.93576932G>T	ENSP00000360689:p.Asp156Tyr	Somatic	0	29	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.D156Y	ENST00000371627.4	37	c.466	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001185	0.93227	.	.	ENSG00000107854	ENST00000371627	T	0.18016	2.24	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000038	T	0.40322	0.1112	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.05533	-1.0879	10	0.62326	D	0.03	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	156	Q9H2K2	TNKS2_HUMAN	Y	156	ENSP00000360689:D156Y	ENSP00000360689:D156Y	D	+	1	0	TNKS2	93566912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.699000	0.92147	0.655000	0.94253	GAT	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.403	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	protein_coding	OTTHUMT00000049374.1	G	NM_025235	-		93576932	1	no_errors	ENST00000371627	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93576932	G	T	93576932	3	4	93	1	0	0	0	0	1	0	0	0	16328	942	33	3	476	3	TNKS2	10	93576932	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	20532354	93576932	41957815	36	5221											
LGI1	9211	genome.wustl.edu	37	chr10	95537148	95537148	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggcaggttattcacatcGaactcctttgatgtgatcag	10	9	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:95537148G>A	ENST00000371418.4	+	3	560	c.300G>A	c.(298-300)tcG>tcA	p.S100S	LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Silent_p.S100S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	100					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TATTCACATCGAACTCCTTTG	0.358																																																	0								ENSG00000108231						116	106	109					10																	95537148		2203	4300	6503	LGI1	SO:0001819	synonymous_variant	0			-	HGNC	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.300G>A	10.37:g.95537148G>A		Somatic	0	45	0		0.566033689646954	8	11.11	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP							pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.S100	ENST00000371418.4	37	c.300	CCDS7431.1	10																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.358	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	protein_coding	OTTHUMT00000049445.1	G	NM_005097	-		95537148	1	no_errors	ENST00000371418	ensembl	human	known	74_37	silent	SNP	0.995	A	A	95537148	G	A	95537148	2	1	93	1	0	0	0	0	0	0	0	1	8753	1045	37	1		1	LGI1	10	95537148	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	1960216	95537148	39997599	37	5222											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133930650	133930650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgagcagcataagaccGcggtcttgctcacggagctc	12	12	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr10:133930650G>A	ENST00000298622.4	+	2	343	c.205G>A	c.(205-207)Gcg>Acg	p.A69T		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	69						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCATAAGACCGCGGTCTTGCT	0.582																																																	0								ENSG00000188385						47	53	51					10																	133930650		2181	4293	6474	JAKMIP3	SO:0001583	missense	0			-	HGNC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.205G>A	10.37:g.133930650G>A	ENSP00000298622:p.Ala69Thr	Somatic	0	35	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP							NULL	p.A69T	ENST00000298622.4	37	c.205	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.502193	0.00992	.	.	ENSG00000188385	ENST00000298622	T	0.07021	3.23	4.53	2.5	0.30297	.	0.320175	0.32093	N	0.006582	T	0.01627	0.0052	N	0.00621	-1.32	0.21290	N	0.999734	B	0.13145	0.007	B	0.04013	0.001	T	0.46190	-0.9209	10	0.02654	T	1	-20.8382	4.1123	0.10065	0.4847:0.0:0.5153:0.0	.	69	Q5VZ66	JKIP3_HUMAN	T	69	ENSP00000298622:A69T	ENSP00000298622:A69T	A	+	1	0	JAKMIP3	133780640	0.677000	0.27577	0.039000	0.18376	0.012000	0.07955	1.724000	0.38064	1.130000	0.42092	0.491000	0.48974	GCG	-	NULL		0.582	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	protein_coding	OTTHUMT00000051049.3	G	NM_194303	-		133930650	1	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	SNP	0.811	A	A	133930650	G	A	133930650	3	1	93	1	0	0	0	0	1	0	0	0	7944	1087	38	1	211	1	JAKMIP3	10	133930650	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	38393502	133930650	1604097	38	5223											
ABCC8	6833	genome.wustl.edu	37	chr11	17427096	17427096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatgctcccaaggggcGtggtctcaaaaaacctaaga	11	10	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:17427096G>A	ENST00000389817.3	-	27	3412	c.3344C>T	c.(3343-3345)aCg>aTg	p.T1115M	ABCC8_ENST00000302539.4_Missense_Mutation_p.T1116M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1115	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCCAAGGGGCGTGGTCTCAAA	0.453																																																	0								ENSG00000006071						154	152	153					11																	17427096		2200	4293	6493	ABCC8	SO:0001583	missense	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3344C>T	11.37:g.17427096G>A	ENSP00000374467:p.Thr1115Met	Somatic	0	31	0		0.566033689646954	4	66.67	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	17	48.48	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.T1116M	ENST00000389817.3	37	c.3347	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.061870	0.93846	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89939	-2.59;-2.59	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96269	0.9197	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1115	Q09428	ABCC8_HUMAN	M	1115;1116	ENSP00000374467:T1115M;ENSP00000303960:T1116M	ENSP00000303960:T1116M	T	-	2	0	ABCC8	17383672	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	ACG	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.453	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	G	NM_000352	-		17427096	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17427096	G	A	17427096	3	1	93	1	0	0	0	0	1	0	0	0	58	1145	40	1	1453	1	ABCC8	11	17427096	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		17427096	117579420	39	5224											
INCENP	3619	genome.wustl.edu	37	chr11	61897827	61897827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctttccagattctccAtggcgggagcgggtgctggc	14	13	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:61897827A>G	ENST00000394818.3	+	4	1030	c.828A>G	c.(826-828)ccA>ccG	p.P276P	INCENP_ENST00000278849.4_Silent_p.P276P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	276					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGATTCTCCATGGCGGGAGC	0.672																																																	0								ENSG00000149503						60	63	62					11																	61897827		2202	4299	6501	INCENP	SO:0001819	synonymous_variant	0			-	HGNC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.828A>G	11.37:g.61897827A>G		Somatic	0	62	0		0.566033689646954	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	44	35.29	A8MQD2|Q5Y192	Silent	SNP							pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.P276	ENST00000394818.3	37	c.828	CCDS44624.1	11																																																																																			-	NULL		0.672	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	protein_coding	OTTHUMT00000394723.2	A	NM_020238	-		61897827	1	no_errors	ENST00000394818	ensembl	human	known	74_37	silent	SNP	0.003	G	G	61897827	A	G	61897827	2	3	93	1	0	0	0	0	0	0	0	1	7735	204	8	5		5	INCENP	11	61897827	Silent	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	44470731	61897827	73108689	40	5225											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64594547	64594547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgtccctggcgccgggcCgcccgttggcagggcccacg	15	17	0	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:64594547C>T	ENST00000342711.5	-	34	4363	c.4364G>A	c.(4363-4365)cGg>cAg	p.R1455Q		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GGCGCCGGGCCGCCCGTTGGC	0.612																																																	0								ENSG00000171219						77	73	74					11																	64594547		2201	4297	6498	CDC42BPG	SO:0001583	missense	0			-	HGNC	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4364G>A	11.37:g.64594547C>T	ENSP00000345133:p.Arg1455Gln	Somatic	0	25	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R1455Q	ENST00000342711.5	37	c.4364	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452594	0.43531	.	.	ENSG00000171219	ENST00000342711	T	0.66815	-0.23	5.0	-5.78	0.02362	.	0.727675	0.11852	N	0.523267	T	0.54319	0.1851	L	0.57536	1.79	0.21604	N	0.999622	B	0.28605	0.217	B	0.22152	0.038	T	0.42732	-0.9434	10	0.52906	T	0.07	.	9.7063	0.40218	0.1022:0.2437:0.0:0.6541	.	1455	Q6DT37	MRCKG_HUMAN	Q	1455	ENSP00000345133:R1455Q	ENSP00000345133:R1455Q	R	-	2	0	CDC42BPG	64351123	0.820000	0.29190	0.000000	0.03702	0.108000	0.19459	-0.147000	0.10234	-1.216000	0.02607	0.561000	0.74099	CGG	-	NULL		0.612	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	protein_coding	OTTHUMT00000105352.4	C	XM_290516	-		64594547	-1	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	SNP	0.586	T	T	64594547	C	T	64594547	3	4	93	1	0	0	0	0	1	0	0	0	3076	652	23	1	307	1	CDC42BPG	11	64594547	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	2696720	64594547	70411969	41	5226											
PELI3	246330	genome.wustl.edu	37	chr11	66243176	66243176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggctcccacactgaaGcaactggaggcccagcggca	13	15	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:66243176G>A	ENST00000320740.7	+	8	1108	c.948G>A	c.(946-948)aaG>aaA	p.K316K	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000349459.6_Silent_p.K292K|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	316					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CCACACTGAAGCAACTGGAGG	0.701																																																	0								ENSG00000174516						20	22	22					11																	66243176		2172	4245	6417	PELI3	SO:0001819	synonymous_variant	0			-	HGNC	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.948G>A	11.37:g.66243176G>A		Somatic	0	12	0		0.566033689646954	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP							pfam_Pellino_fam	p.K316	ENST00000320740.7	37	c.948	CCDS31615.1	11																																																																																			-	pfam_Pellino_fam		0.701	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	protein_coding	OTTHUMT00000393226.1	G	NM_145065	-		66243176	1	no_errors	ENST00000320740	ensembl	human	known	74_37	silent	SNP	1.000	A	A	66243176	G	A	66243176	2	1	93	1	0	0	0	0	0	0	0	1	11725	962	34	2		2	PELI3	11	66243176	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	1648629	66243176	68763340	42	5227											
PELI3	246330	genome.wustl.edu	37	chr11	66243493	66243493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccttgcggccacgtctGctctgagaagactgcccgct	11	15	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:66243493G>A	ENST00000320740.7	+	8	1425	c.1265G>A	c.(1264-1266)tGc>tAc	p.C422Y	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.C398Y|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	422					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCACGTCTGCTCTGAGAAG	0.667																																																	0								ENSG00000174516						25	23	24					11																	66243493		2175	4243	6418	PELI3	SO:0001583	missense	0			-	HGNC	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1265G>A	11.37:g.66243493G>A	ENSP00000322532:p.Cys422Tyr	Somatic	0	12	0		0.566033689646954	24	11.11	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP							pfam_Pellino_fam	p.C422Y	ENST00000320740.7	37	c.1265	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409469	0.83340	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.50548	0.74;0.74	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79108	0.967;0.992	T	0.74760	-0.3556	10	0.87932	D	0	-25.9835	15.3026	0.73966	0.0:0.0:1.0:0.0	.	398;422	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	Y	398;422	ENSP00000309848:C398Y;ENSP00000322532:C422Y	ENSP00000322532:C422Y	C	+	2	0	PELI3	66000069	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.657000	0.98554	2.471000	0.83476	0.655000	0.94253	TGC	-	pfam_Pellino_fam		0.667	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	protein_coding	OTTHUMT00000393226.1	G	NM_145065	-		66243493	1	no_errors	ENST00000320740	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66243493	G	A	66243493	3	1	93	1	0	0	0	0	1	0	0	0	11725	1319	46	2	1291	2	PELI3	11	66243493	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	317	66243493	68763023	43	5228											
C2CD3	26005	genome.wustl.edu	37	chr11	73814461	73814461	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggtgactttcggttgggGagcaccaagttctgtgcttt	13	8	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:73814461G>A	ENST00000334126.7	-	14	2521	c.2295C>T	c.(2293-2295)ctC>ctT	p.L765L	C2CD3_ENST00000313663.7_Silent_p.L765L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	765					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCGGTTGGGGAGCACCAAGT	0.438																																																	0								ENSG00000168014						214	210	211					11																	73814461		2200	4293	6493	C2CD3	SO:0001819	synonymous_variant	0			-	HGNC	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2295C>T	11.37:g.73814461G>A		Somatic	0	85	0		0.566033689646954	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.L765	ENST00000334126.7	37	c.2295		11																																																																																			-	NULL		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	protein_coding		G	NM_015531	-		73814461	-1	no_errors	ENST00000334126	ensembl	human	known	74_37	silent	SNP	0.000	A	A	73814461	G	A	73814461	2	1	93	1	0	0	0	0	0	0	0	1	2156	1161	41	2		2	C2CD3	11	73814461	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	7570968	73814461	61192055	44	5229											
TMEM25	84866	genome.wustl.edu	37	chr11	118402987	118402987	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacccccagattggccTggtatctggatggacagctg	13	12	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:118402987T>A	ENST00000313236.5	+	3	246	c.193T>A	c.(193-195)Tgg>Agg	p.W65R	TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000359862.4_Missense_Mutation_p.W65R|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.W65R|TMEM25_ENST00000524725.1_Missense_Mutation_p.W65R|TMEM25_ENST00000442938.2_Missense_Mutation_p.W65R|TMEM25_ENST00000411589.2_Missense_Mutation_p.W65R|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000533102.1_Missense_Mutation_p.W65R|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.W65R|TMEM25_ENST00000529001.1_3'UTR|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	65	Ig-like.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CAGATTGGCCTGGTATCTGGA	0.637																																																	0								ENSG00000149582						43	47	46					11																	118402987		2200	4295	6495	TMEM25	SO:0001583	missense	0			-	HGNC	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.193T>A	11.37:g.118402987T>A	ENSP00000315635:p.Trp65Arg	Somatic	0	33	0		0.566033689646954	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP							pfam_CD80_C2-set,pfscan_Ig-like_dom	p.W65R	ENST00000313236.5	37	c.193	CCDS8398.1	11	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454520	0.84209	.	.	ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533137;ENST00000532762;ENST00000533102;ENST00000313236;ENST00000527267;ENST00000524725;ENST00000533689	D;D;D;D;D;D;D;D;D;D;T;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;0.22;-3.03;-3.03	5.07	5.07	0.68467	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	L	0.29908	0.895	0.40023	D	0.975439	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998;0.999;0.997	D	0.93813	0.7112	10	0.87932	D	0	-3.5696	12.2076	0.54361	0.0:0.0:0.0:1.0	.	65;65;65;65;65;65;65;65	F5H294;Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-2	.;TMM25_HUMAN;.;.;.;.;.;.	R	65;65;65;65;65;65;33;65;65;65;33;65;65	ENSP00000411882:W65R;ENSP00000416071:W65R;ENSP00000352924:W65R;ENSP00000432040:W65R;ENSP00000439408:W65R;ENSP00000346237:W65R;ENSP00000433938:W33R;ENSP00000433906:W65R;ENSP00000431548:W65R;ENSP00000315635:W65R;ENSP00000435446:W33R;ENSP00000431205:W65R;ENSP00000436746:W65R	ENSP00000315635:W65R	W	+	1	0	TMEM25	117908197	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.968000	0.70413	1.904000	0.55121	0.459000	0.35465	TGG	-	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.637	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM25	protein_coding	OTTHUMT00000389266.1	T	NM_032780	-		118402987	1	no_errors	ENST00000533102	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118402987	T	A	118402987	3	1	93	1	0	0	0	0	1	0	0	0	16157	1580	55	5	199	5	TMEM25	11	118402987	Missense_Mutation	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09	44588526	118402987	16603529	45	5230											
TECTA	7007	genome.wustl.edu	37	chr11	121028808	121028808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctgccagaaactgcccGacatctccttccagcttatc	5	17	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr11:121028808G>A	ENST00000392793.1	+	14	4835	c.4564G>A	c.(4564-4566)Gac>Aac	p.D1522N	TECTA_ENST00000264037.2_Missense_Mutation_p.D1522N			O75443	TECTA_HUMAN	tectorin alpha	1522	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACTGCCCGACATCTCCTT	0.592																																																	0								ENSG00000109927						92	72	79					11																	121028808		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4564G>A	11.37:g.121028808G>A	ENSP00000376543:p.Asp1522Asn	Somatic	0	26	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05		Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.D1522N	ENST00000392793.1	37	c.4564	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.231592	0.95207	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60171	0.21;0.21	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	N	0.25485	0.75	0.51233	D	0.999915	D	0.76494	0.999	D	0.64042	0.921	T	0.54497	-0.8285	10	0.14252	T	0.57	.	19.7763	0.96395	0.0:0.0:1.0:0.0	.	1522	O75443	TECTA_HUMAN	N	1522	ENSP00000376543:D1522N;ENSP00000264037:D1522N	ENSP00000264037:D1522N	D	+	1	0	TECTA	120534018	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.405000	0.97313	2.687000	0.91594	0.563000	0.77884	GAC	-	pfam_VWF_type-D,smart_VWF_type-D		0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	G	NM_005422	-		121028808	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121028808	G	A	121028808	3	1	93	1	0	0	0	0	1	0	0	0	15754	1058	37	1	4614	1	TECTA	11	121028808	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	2625821	121028808	13977708	46	5231											
SLC38A4	55089	genome.wustl.edu	37	chr12	47172381	47172381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcccttggcctggttcTcatccagccctgcaggattg	12	13	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:47172381T>C	ENST00000447411.1	-	10	1102	c.896A>G	c.(895-897)gAg>gGg	p.E299G	SLC38A4_ENST00000266579.4_Missense_Mutation_p.E299G	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	299					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GGCCTGGTTCTCATCCAGCCC	0.463																																																	0								ENSG00000139209						107	95	99					12																	47172381		2203	4299	6502	SLC38A4	SO:0001583	missense	0			-	HGNC	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.896A>G	12.37:g.47172381T>C	ENSP00000389843:p.Glu299Gly	Somatic	0	34	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	20	52.38	A8K553	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.E299G	ENST00000447411.1	37	c.896	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	T	11.30	1.596635	0.28445	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04275	3.66;3.66	4.91	3.76	0.43208	.	0.347136	0.29348	N	0.012420	T	0.02848	0.0085	N	0.08118	0	0.20926	N	0.99983	B	0.02656	0.0	B	0.04013	0.001	T	0.44128	-0.9348	10	0.29301	T	0.29	-7.8326	10.5395	0.45024	0.0:0.0763:0.0:0.9237	.	299	Q969I6	S38A4_HUMAN	G	299	ENSP00000389843:E299G;ENSP00000266579:E299G	ENSP00000266579:E299G	E	-	2	0	SLC38A4	45458648	0.005000	0.15991	0.050000	0.19076	0.959000	0.62525	0.902000	0.28459	1.007000	0.39238	0.397000	0.26171	GAG	-	NULL		0.463	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	protein_coding	OTTHUMT00000404574.1	T		-		47172381	-1	no_errors	ENST00000266579	ensembl	human	known	74_37	missense	SNP	0.319	C	C	47172381	T	C	47172381	3	2	93	1	0	0	0	0	1	0	0	0	14614	1551	54	5	775	5	SLC38A4	12	47172381	Missense_Mutation	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09		47172381	86679514	47	5232											
GPR182	11318	genome.wustl.edu	37	chr12	57390107	57390107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgatagccagcctgctGcagcagccccccaccctgag	12	16	0	2	rs546209144		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:57390107G>A	ENST00000300098.1	+	2	1333	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	372					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CCAGCCTGCTGCAGCAGCCCC	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		20281	0		0	False		,,,				2504	0																0								ENSG00000166856						84	79	81					12																	57390107		2203	4300	6503	GPR182	SO:0001583	missense	0			-	HGNC	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.1114G>A	12.37:g.57390107G>A	ENSP00000300098:p.Ala372Thr	Somatic	0	38	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.A372T	ENST00000300098.1	37	c.1114	CCDS8927.1	12	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223097	0.39300	.	.	ENSG00000166856	ENST00000300098	T	0.70516	-0.49	4.68	-0.442	0.12253	.	0.162316	0.38058	N	0.001837	T	0.47967	0.1474	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.34625	-0.9821	10	0.62326	D	0.03	.	4.4234	0.11492	0.3669:0.1582:0.4749:0.0	.	372	O15218	GP182_HUMAN	T	372	ENSP00000300098:A372T	ENSP00000300098:A372T	A	+	1	0	GPR182	55676374	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.016000	0.13377	-0.175000	0.10725	-0.258000	0.10820	GCA	-	NULL		0.582	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR182	protein_coding	OTTHUMT00000411212.1	G	NM_007264	-		57390107	1	no_errors	ENST00000300098	ensembl	human	known	74_37	missense	SNP	0.005	A	A	57390107	G	A	57390107	3	1	93	1	0	0	0	0	1	0	0	0	6679	1319	46	2	1116	2	GPR182	12	57390107	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	10217726	57390107	76461788	48	5233											
AGAP2	116986	genome.wustl.edu	37	chr12	58123509	58123509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatgggagaaggaggggGttcccgactcagggggctca	17	10	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:58123509G>A	ENST00000547588.1	-	13	2469	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	AGAP2_ENST00000257897.3_Missense_Mutation_p.P488S	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	824	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GAAGGAGGGGGTTCCCGACTC	0.562																																																	0								ENSG00000135439						132	140	137					12																	58123509		2203	4300	6503	AGAP2	SO:0001583	missense	0			-	HGNC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2470C>T	12.37:g.58123509G>A	ENSP00000449241:p.Pro824Ser	Somatic	0	47	0		0.566033689646954	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	48	12.73	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.P824S	ENST00000547588.1	37	c.2470	CCDS44932.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.605950|2.605950	0.46527|0.46527	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.32753|.	1.52;1.44|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Pleckstrin homology domain (3);|.	0.612188|.	0.16176|.	N|.	0.226080|.	T|T	0.59959|0.59959	0.2232|0.2232	L|L	0.39898|0.39898	1.24|1.24	0.43988|0.43988	D|D	0.996686|0.996686	B;B;B|.	0.31680|.	0.335;0.037;0.256|.	B;B;B|.	0.33960|.	0.084;0.032;0.173|.	T|T	0.56529|0.56529	-0.7964|-0.7964	10|5	0.51188|.	T|.	0.08|.	.|.	16.2564|16.2564	0.82519|0.82519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	488;824;824|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	S|I	488;824|687	ENSP00000257897:P488S;ENSP00000449241:P824S|.	ENSP00000257897:P488S|.	P|T	-|-	1|2	0|0	AGAP2|AGAP2	56409776|56409776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	7.464000|7.464000	0.80887|0.80887	2.444000|2.444000	0.82710|0.82710	0.462000|0.462000	0.41574|0.41574	CCC|ACC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.562	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	protein_coding	OTTHUMT00000408367.1	G	NM_014770	-		58123509	-1	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58123509	G	A	58123509	3	1	93	1	0	0	0	0	1	0	0	0	368	1261	44	2	1136	2	AGAP2	12	58123509	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	733402	58123509	75728386	49	5234											
DPY19L2	283417	genome.wustl.edu	37	chr12	63974526	63974526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattatgctccattgattacGgaggtttgcataaccttgta	8	7	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:63974526G>A	ENST00000324472.4	-	19	1999	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	DPY19L2_ENST00000413230.2_Missense_Mutation_p.R53C	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	606					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CATTGATTACGGAGGTTTGCA	0.383																																																	0								ENSG00000177990						74	72	73					12																	63974526		2203	4300	6503	DPY19L2	SO:0001583	missense	0			-	HGNC		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1816C>T	12.37:g.63974526G>A	ENSP00000315988:p.Arg606Cys	Somatic	0	78	0		0.566033689646954	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	81	17.35	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP							pfam_Dpy-19	p.R606C	ENST00000324472.4	37	c.1816	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825002	0.32237	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.57907	0.37;0.37	3.49	3.49	0.39957	.	0.292617	0.38897	N	0.001523	T	0.40791	0.1131	L	0.38175	1.15	0.42137	D	0.991494	B	0.16603	0.018	B	0.18561	0.022	T	0.27502	-1.0072	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	606	Q6NUT2	D19L2_HUMAN	C	606;53	ENSP00000315988:R606C;ENSP00000439794:R53C	.	R	-	1	0	DPY19L2	62260793	1.000000	0.71417	0.934000	0.37439	0.516000	0.34256	6.378000	0.73150	1.920000	0.55613	0.305000	0.20034	CGT	-	pfam_Dpy-19		0.383	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	protein_coding	OTTHUMT00000400689.2	G	NM_173812	-		63974526	-1	no_errors	ENST00000324472	ensembl	human	known	74_37	missense	SNP	1.000	A	A	63974526	G	A	63974526	3	1	93	1	0	0	0	0	1	0	0	0	4743	1116	39	1	476	1	DPY19L2	12	63974526	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	5851017	63974526	69877369	50	5235											
MDM2	4193	genome.wustl.edu	37	chr12	69210612	69210612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttttttatcttggccaGtatattatgactaaacgatt	6	6	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:69210612G>A	ENST00000350057.5	+	2	102	c.102G>A	c.(100-102)caG>caA	p.Q34Q	MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.Q65Q|MDM2_ENST00000544561.1_Silent_p.Q59Q|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000462284.1_Silent_p.Q65Q|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Silent_p.Q59Q			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	59	Necessary for interaction with USP2.|SWIB.				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)			ATCTTGGCCAGTATATTATGA	0.289			A		"sarcoma, glioma, colorectal, other"																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0								ENSG00000135679						78	72	74					12																	69210612		1800	4073	5873	MDM2	SO:0001819	synonymous_variant	0			-	HGNC		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.102G>A	12.37:g.69210612G>A		Somatic	0	50	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP							pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.Q65	ENST00000350057.5	37	c.195		12																																																																																			-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4		0.289	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	protein_coding	OTTHUMT00000402665.1	G	NM_006880	-		69210612	1	no_errors	ENST00000462284	ensembl	human	known	74_37	silent	SNP	1.000	A	A	69210612	G	A	69210612	2	1	93	1	0	0	0	0	0	0	0	1	9415	1020	36	2		2	MDM2	12	69210612	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	5236086	69210612	64641283	51	5236											
DTX1	1840	genome.wustl.edu	37	chr12	113496104	113496104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgaatgagcacagccGctggcggccctacacggcca	14	14	0	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:113496104G>A	ENST00000257600.3	+	1	610	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	36	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAGCACAGCCGCTGGCGGCCC	0.672																																																	0								ENSG00000135144						71	62	65					12																	113496104		2203	4299	6502	DTX1	SO:0001583	missense	0			-	HGNC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.107G>A	12.37:g.113496104G>A	ENSP00000257600:p.Arg36His	Somatic	0	49	0		0.566033689646954	13	7.14	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	97	8.49	O60630|Q9BS04	Missense_Mutation	SNP							pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.R36H	ENST00000257600.3	37	c.107	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654946	0.88056	.	.	ENSG00000135144	ENST00000257600	T	0.45668	0.89	3.9	3.9	0.45041	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.50786	0.1636	L	0.38175	1.15	0.53688	D	0.999975	D	0.89917	1.0	D	0.81914	0.995	T	0.38351	-0.9665	10	0.17369	T	0.5	-5.0661	14.8783	0.70513	0.0:0.0:1.0:0.0	.	36	Q86Y01	DTX1_HUMAN	H	36	ENSP00000257600:R36H	ENSP00000257600:R36H	R	+	2	0	DTX1	111980487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.164000	0.77533	2.021000	0.59480	0.555000	0.69702	CGC	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom		0.672	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	protein_coding	OTTHUMT00000405045.2	G		-		113496104	1	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113496104	G	A	113496104	3	1	93	1	0	0	0	0	1	0	0	0	4795	1087	38	1	109	1	DTX1	12	113496104	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	44285492	113496104	20355791	52	5237											
RIMBP2	23504	genome.wustl.edu	37	chr12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgctcgttccccagcGtgcttgccaaccgcgactcg	10	17	0	0	rs147881182	byFrequency	TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr12:130927121G>A	ENST00000261655.4	-	8	888	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	242					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592																																																	0								ENSG00000060709	G	MET/THR	0,4406		0,0,2203	151	147	148		725	3.5	0	12	dbSNP_134	148	2,8598	2.2+/-6.3	0,2,4298	no	missense	RIMBP2	NM_015347.4	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	242/1053	130927121	2,13004	2203	4300	6503	RIMBP2	SO:0001583	missense	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.725C>T	12.37:g.130927121G>A	ENSP00000261655:p.Thr242Met	Somatic	0	52	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	57	20.83	Q96ID2	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.T242M	ENST00000261655.4	37	c.725	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733745	0.30684	0.0	2.33E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.85;2.85	4.42	3.52	0.40303	.	0.611371	0.18094	N	0.151888	T	0.27384	0.0672	M	0.68317	2.08	0.20074	N	0.999935	P;D	0.61080	0.742;0.989	P;P	0.47402	0.467;0.546	T	0.10590	-1.0623	10	0.51188	T	0.08	-11.8359	8.7052	0.34349	0.0846:0.1524:0.763:0.0	.	150;242	O15034-2;O15034	.;RIMB2_HUMAN	M	242;150;150;150	ENSP00000261655:T242M;ENSP00000440347:T150M;ENSP00000439159:T150M	ENSP00000261655:T242M	T	-	2	0	RIMBP2	129493074	0.261000	0.24063	0.008000	0.14137	0.305000	0.27757	1.406000	0.34646	0.835000	0.34877	0.561000	0.74099	ACG	-	NULL		0.592	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	rs147881182		130927121	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	SNP	0.237	A	A	130927121	G	A	130927121	3	1	93	1	0	0	0	0	1	0	0	0	13371	1145	40	1	2481	1	RIMBP2	12	130927121	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	17431017	130927121	2924774	53	5238											
KLF5	688	genome.wustl.edu	37	chr13	73636861	73636861	+	Frame_Shift_Del	DEL	G	G	-													gaaacgacgcatccactactGcgattaccctggtatgtgct							TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr13:73636861delG	ENST00000377687.4	+	2	1660	c.1124delG	c.(1123-1125)tgcfs	p.C375fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.C284fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	375					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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 positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ATCCACTACTGCGATTACCCT	0.498																																																	0								ENSG00000102554						139	142	141					13																	73636861		2203	4300	6503	KLF5	SO:0001589	frameshift_variant	0				HGNC	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1124delG	13.37:g.73636861delG	ENSP00000366915:p.Cys375fs	Somatic	0	43	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C375fs	ENST00000377687.4	37	c.1124	CCDS9448.1	13																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	protein_coding	OTTHUMT00000045263.1	G				73636861	1	no_errors	ENST00000377687	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	73636861	G	-	73636861	7	5	93	1	0	1	0	1	0	0	0	0	8351	1319	46	0	1130	0	KLF5	13	73636861	Frame_Shift_Del	DEL	G	TCGA-DX-A7EU-01A-22D-A36J-09		73636861	41533017	54	5239											
SOS2	6655	genome.wustl.edu	37	chr14	50623782	50623782	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcactgattggctgctcGcctttctctattgccaattt	7	12	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr14:50623782G>T	ENST00000216373.5	-	12	2266	c.1992C>A	c.(1990-1992)ggC>ggA	p.G664G	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.G631G	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	664	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGGCTGCTCGCCTTTCTCTA	0.358																																																	0								ENSG00000100485						88	77	81					14																	50623782		2203	4300	6503	SOS2	SO:0001819	synonymous_variant	0			-	HGNC	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1992C>A	14.37:g.50623782G>T		Somatic	0	57	0		0.566033689646954	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G664	ENST00000216373.5	37	c.1992	CCDS9697.1	14																																																																																			-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	protein_coding	OTTHUMT00000276878.2	G		-		50623782	-1	no_errors	ENST00000216373	ensembl	human	known	74_37	silent	SNP	0.954	T	T	50623782	G	T	50623782	2	4	93	1	0	0	0	0	0	0	0	1	14945	1074	38	3		3	SOS2	14	50623782	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		50623782	56725758	55	5240											
YY1	7528	genome.wustl.edu	37	chr14	100742831	100742831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctctgttttaagggctGcacaaagatgttcagggata	10	7	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr14:100742831G>T	ENST00000262238.4	+	4	1168	c.908G>T	c.(907-909)tGc>tTc	p.C303F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	303	Binding to DNA.|Involved in nuclear matrix association.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TTTAAGGGCTGCACAAAGATG	0.428																																																	0								ENSG00000100811						68	66	67					14																	100742831		2203	4300	6503	YY1	SO:0001583	missense	0			-	HGNC	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.908G>T	14.37:g.100742831G>T	ENSP00000262238:p.Cys303Phe	Somatic	0	35	0		0.566033689646954	67	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q14935	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.C303F	ENST00000262238.4	37	c.908	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276223	0.40294	.	.	ENSG00000100811	ENST00000262238;ENST00000553625	T	0.23348	1.91	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.61800	0.2376	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68853	-0.5299	10	0.87932	D	0	.	19.9056	0.97006	0.0:0.0:1.0:0.0	.	303	P25490	TYY1_HUMAN	F	303;113	ENSP00000262238:C303F	ENSP00000262238:C303F	C	+	2	0	YY1	99812584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.717000	0.98755	2.773000	0.95371	0.609000	0.83330	TGC	-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2		0.428	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	protein_coding	OTTHUMT00000318277.1	G	NM_003403	-		100742831	1	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100742831	G	T	100742831	3	4	93	1	0	0	0	0	1	0	0	0	17514	1319	46	3	922	3	YY1	14	100742831	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	50119049	100742831	6606709	56	5241											
MYO5A	4644	genome.wustl.edu	37	chr15	52688573	52688573	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaactgttcaaaactAtttatctcaaatgtttcaaa	3	7	3	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr15:52688573A>T	ENST00000399231.3	-	11	1584	c.1341T>A	c.(1339-1341)aaT>aaA	p.N447K	MYO5A_ENST00000553916.1_Missense_Mutation_p.N447K|MYO5A_ENST00000356338.6_Missense_Mutation_p.N447K|MYO5A_ENST00000399233.2_Missense_Mutation_p.N447K|MYO5A_ENST00000358212.6_Missense_Mutation_p.N447K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	447	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTCAAAACTATTTATCTCAA	0.254																																																	0								ENSG00000197535						47	44	44					15																	52688573		1765	4037	5802	MYO5A	SO:0001583	missense	0			-	HGNC		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1341T>A	15.37:g.52688573A>T	ENSP00000382177:p.Asn447Lys	Somatic	0	67	0		0.566033689646954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N447K	ENST00000399231.3	37	c.1341	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054998	0.75960	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	5.45	4.33	0.51752	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	H	0.99752	4.75	0.80722	D	1	D;P	0.71674	0.998;0.894	D;B	0.77004	0.989;0.421	D	0.95218	0.8331	10	0.87932	D	0	.	6.3543	0.21393	0.7062:0.0:0.2938:0.0	.	447;447	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	447;447;447;447;77;447	ENSP00000382177:N447K;ENSP00000382179:N447K;ENSP00000348693:N447K;ENSP00000350945:N447K;ENSP00000451109:N447K	ENSP00000348693:N447K	N	-	3	2	MYO5A	50475865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.229000	0.51278	1.008000	0.39264	0.528000	0.53228	AAT	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.254	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	protein_coding	OTTHUMT00000268102.1	A	NM_000259	-		52688573	-1	no_errors	ENST00000358212	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52688573	A	T	52688573	3	4	93	1	0	0	0	0	1	0	0	0	10080	446	16	5	4350	5	MYO5A	15	52688573	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09		52688573	49842819	57	5242											
ACAN	176	genome.wustl.edu	37	chr15	89390479	89390479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccccacccaggggtcGtcttccactaccgcccggga	9	20	1	0	rs369608360		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr15:89390479G>A	ENST00000561243.1	+	7	1435	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	ACAN_ENST00000352105.7_Missense_Mutation_p.V479I|ACAN_ENST00000558207.1_Missense_Mutation_p.V479I|ACAN_ENST00000439576.2_Missense_Mutation_p.V479I|ACAN_ENST00000559004.1_Missense_Mutation_p.V479I			P16112	PGCA_HUMAN	aggrecan	479	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			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)			CCCAGGGGTCGTCTTCCACTA	0.687													G|||	1	0.000199681	0	0	5008	,	,		15525	0.001		0	False		,,,				2504	0																0								ENSG00000157766	G	ILE/VAL,ILE/VAL	0,3896		0,0,1948	12	15	14		1435,1435	5.5	1	15		14	1,8169		0,1,4084	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	29,29	0,1,6032	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	479/2432,479/2531	89390479	1,12065	1948	4085	6033	ACAN	SO:0001583	missense	0			-	HGNC	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.1435G>A	15.37:g.89390479G>A	ENSP00000453342:p.Val479Ile	Somatic	0	53	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.V479I	ENST00000561243.1	37	c.1435	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101968	0.56183	0.0	1.22E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.20598	2.06;2.06	5.54	5.54	0.83059	.	.	.	.	.	T	0.49423	0.1556	M	0.79011	2.435	0.45662	D	0.998589	D;D;D	0.89917	1.0;1.0;0.971	D;D;P	0.69824	0.966;0.954;0.544	T	0.49781	-0.8903	9	0.59425	D	0.04	-17.3566	18.477	0.90797	0.0:0.0:1.0:0.0	.	479;479;479	E7ENV9;E7EX88;Q6PID9	.;.;.	I	479	ENSP00000387356:V479I;ENSP00000341615:V479I	ENSP00000268134:V479I	V	+	1	0	ACAN	87191483	1.000000	0.71417	0.979000	0.43373	0.355000	0.29361	6.579000	0.74036	2.589000	0.87451	0.655000	0.94253	GTC	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.687	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	G	NM_001135	-		89390479	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89390479	G	A	89390479	3	1	93	1	0	0	0	0	1	0	0	0	117	1145	40	1	1461	1	ACAN	15	89390479	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	36701906	89390479	13140913	58	5243											
TSC2	7249	genome.wustl.edu	37	chr16	2136285	2136285	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccggctcatcgagctgaAggactgccagccggacaagg	16	12	1	1	rs137854039		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr16:2136285A>T	ENST00000219476.3	+	37	5384	c.4754A>T	c.(4753-4755)aAg>aTg	p.K1585M	TSC2_ENST00000350773.4_Missense_Mutation_p.K1562M|TSC2_ENST00000439673.2_Missense_Mutation_p.K1482M|TSC2_ENST00000382538.6_Missense_Mutation_p.K1470M|TSC2_ENST00000401874.2_Missense_Mutation_p.K1518M|TSC2_ENST00000353929.4_Missense_Mutation_p.K1542M|TSC2_ENST00000568454.1_Missense_Mutation_p.K1529M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1585	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCGAGCTGAAGGACTGCCAG	0.612			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0								ENSG00000103197						117	95	102					16																	2136285		2198	4299	6497	TSC2	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	-	HGNC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4754A>T	16.37:g.2136285A>T	ENSP00000219476:p.Lys1585Met	Somatic	0	48	0		0.566033689646954	161	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP							pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.K1585M	ENST00000219476.3	37	c.4754	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751650	0.69533	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.80616	2.505	0.58432	D	0.999998	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;0.999;0.999;0.995;0.999;0.999;0.999	D	0.98169	1.0451	10	0.87932	D	0	-37.8633	13.9283	0.63978	1.0:0.0:0.0:0.0	.	1470;1482;1562;360;1541;1518;1585	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	M	1585;1519;1542;1482;1470;1562	ENSP00000219476:K1585M;ENSP00000248099:K1542M;ENSP00000399232:K1482M;ENSP00000371978:K1470M;ENSP00000344383:K1562M	ENSP00000219476:K1585M	K	+	2	0	TSC2	2076286	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.121000	0.71602	1.881000	0.54492	0.459000	0.35465	AAG	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.612	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	A	NM_000548	-		2136285	1	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2136285	A	T	2136285	3	4	93	1	0	0	0	0	1	0	0	0	16613	72	3	5	4896	5	TSC2	16	2136285	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09		2136285	88218468	59	5244											
CHD9	80205	genome.wustl.edu	37	chr16	53321893	53321893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatccagaatacaaAcctgccccagccatctttaa	7	12	1	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr16:53321893A>C	ENST00000398510.3	+	26	5301	c.5214A>C	c.(5212-5214)aaA>aaC	p.K1738N	CHD9_ENST00000566029.1_Missense_Mutation_p.K1738N|CHD9_ENST00000447540.1_Missense_Mutation_p.K1738N|CHD9_ENST00000564845.1_Missense_Mutation_p.K1738N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1738					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAATACAAACCTGCCCCAG	0.333																																																	0								ENSG00000177200						109	106	107					16																	53321893		1822	4082	5904	CHD9	SO:0001583	missense	0			-	HGNC	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5214A>C	16.37:g.53321893A>C	ENSP00000381522:p.Lys1738Asn	Somatic	0	43	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	11	66.67	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K1738N	ENST00000398510.3	37	c.5214		16	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055454	0.75960	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.90324	-2.65;-2.65	5.73	2.29	0.28610	.	0.099352	0.43579	D	0.000550	D	0.92202	0.7527	M	0.71206	2.165	0.52099	D	0.999945	D;P;P;D	0.56035	0.974;0.928;0.931;0.959	P;P;P;P	0.57846	0.638;0.828;0.522;0.714	D	0.89307	0.3630	10	0.45353	T	0.12	-16.0465	8.9999	0.36074	0.7186:0.0:0.2814:0.0	.	106;1738;1738;1738	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	N	1738;1738;106	ENSP00000396345:K1738N;ENSP00000381522:K1738N	ENSP00000381522:K1738N	K	+	3	2	CHD9	51879394	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.517000	0.35867	0.127000	0.18452	0.533000	0.62120	AAA	-	NULL		0.333	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	A	NM_025134	-		53321893	1	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53321893	A	C	53321893	3	2	93	1	0	0	0	0	1	0	0	0	3334	40	2	5	5316	5	CHD9	16	53321893	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	51185608	53321893	37032860	60	5245											
ZDHHC1	29800	genome.wustl.edu	37	chr16	67428948	67428948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgttcgcactttatacacGcgcctcttcctctttttctg	6	14	3	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr16:67428948G>T	ENST00000348579.2	-	10	1528	c.1187C>A	c.(1186-1188)gCg>gAg	p.A396E	ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000290942.5_5'Flank|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000393957.2_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	396					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CTTTATACACGCGCCTCTTCC	0.617																																																	0								ENSG00000159714						22	27	25					16																	67428948		2197	4300	6497	ZDHHC1	SO:0001583	missense	0			-	HGNC	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1187C>A	16.37:g.67428948G>T	ENSP00000340299:p.Ala396Glu	Somatic	0	33	0		0.566033689646954	89	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O15461	Missense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.A396E	ENST00000348579.2	37	c.1187	CCDS10836.1	16	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450246	0.43531	.	.	ENSG00000159714	ENST00000348579	T	0.43294	0.95	3.9	-4.21	0.03812	.	3.630500	0.01214	U	0.007919	T	0.22551	0.0544	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16041	-1.0416	10	0.59425	D	0.04	.	1.0536	0.01585	0.192:0.1374:0.2275:0.4431	.	396	Q8WTX9	ZDHC1_HUMAN	E	396	ENSP00000340299:A396E	ENSP00000340299:A396E	A	-	2	0	ZDHHC1	65986449	0.000000	0.05858	0.030000	0.17652	0.006000	0.05464	-1.069000	0.03444	-0.492000	0.06687	-0.264000	0.10439	GCG	-	NULL		0.617	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	protein_coding	OTTHUMT00000268845.1	G	NM_013304	-		67428948	-1	no_errors	ENST00000348579	ensembl	human	known	74_37	missense	SNP	0.002	T	T	67428948	G	T	67428948	3	4	93	1	0	0	0	0	1	0	0	0	17607	1087	38	3	278	3	ZDHHC1	16	67428948	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	14107055	67428948	22925805	61	5246											
ATMIN	23300	genome.wustl.edu	37	chr16	81078150	81078150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttactcgcagatacctctGctcagtcctatgggtgtagg	10	11	3	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr16:81078150G>A	ENST00000299575.4	+	4	2071	c.2047G>A	c.(2047-2049)Gct>Act	p.A683T	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.A527T|ATMIN_ENST00000566488.1_Missense_Mutation_p.A527T	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	683					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGATACCTCTGCTCAGTCCTA	0.458																																																	0								ENSG00000166454						103	111	108					16																	81078150		2202	4300	6502	ATMIN	SO:0001583	missense	0			-	HGNC	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2047G>A	16.37:g.81078150G>A	ENSP00000299575:p.Ala683Thr	Somatic	0	36	0		0.566033689646954	63	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K4H8|Q68DC9	Missense_Mutation	SNP							smart_Znf_C2H2-like	p.A683T	ENST00000299575.4	37	c.2047	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347916	0.24426	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.30448	1.53	5.49	3.41	0.39046	.	0.475431	0.26173	N	0.025919	T	0.14743	0.0356	N	0.16130	0.375	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18147	-1.0346	10	0.18276	T	0.48	-4.8447	6.7907	0.23697	0.2947:0.0:0.7053:0.0	.	683	O43313	ATMIN_HUMAN	T	683;454	ENSP00000299575:A683T	ENSP00000299575:A683T	A	+	1	0	ATMIN	79635651	0.012000	0.17670	0.988000	0.46212	0.922000	0.55478	0.597000	0.24059	1.533000	0.49186	0.655000	0.94253	GCT	-	NULL		0.458	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	protein_coding	OTTHUMT00000432140.1	G	NM_015251	-		81078150	1	no_errors	ENST00000299575	ensembl	human	known	74_37	missense	SNP	0.156	A	A	81078150	G	A	81078150	3	1	93	1	0	0	0	0	1	0	0	0	1110	1319	46	2	2061	2	ATMIN	16	81078150	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	13649202	81078150	9276603	62	5247											
DPH1	1801	genome.wustl.edu	37	chr17	1933486	1933486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcgctggtcgtatccgGggcagcggagcagggcggcc	21	12	0	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:1933486G>T	ENST00000263083.6	+	1	83	c.38G>T	c.(37-39)gGg>gTg	p.G13V		NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	13					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GTCGTATCCGGGGCAGCGGAG	0.672																																																	0								ENSG00000108963						11	15	14					17																	1933486		2003	4156	6159	DPH1	SO:0001583	missense	0			-	HGNC	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.38G>T	17.37:g.1933486G>T	ENSP00000263083:p.Gly13Val	Somatic	0	32	0		0.566033689646954	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP							pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2	p.G13V	ENST00000263083.6	37	c.38	CCDS42228.1	17	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462133	0.26248	.	.	ENSG00000108963	ENST00000263083	T	0.30182	1.54	4.71	-1.72	0.08107	.	0.282812	0.33534	N	0.004804	T	0.10208	0.0250	N	0.08118	0	0.19945	N	0.999946	B	0.02656	0.0	B	0.01281	0.0	T	0.10222	-1.0639	10	0.30854	T	0.27	.	0.9167	0.01306	0.347:0.3132:0.1879:0.1519	.	13	Q9BZG8	DPH1_HUMAN	V	13	ENSP00000263083:G13V	ENSP00000263083:G13V	G	+	2	0	DPH1	1880236	0.024000	0.19004	0.000000	0.03702	0.945000	0.59286	0.141000	0.16076	-0.446000	0.07149	-0.312000	0.09012	GGG	-	NULL		0.672	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH1	protein_coding	OTTHUMT00000438660.1	G	NM_001383	-		1933486	1	no_errors	ENST00000263083	ensembl	human	known	74_37	missense	SNP	0.001	T	T	1933486	G	T	1933486	3	4	93	1	0	0	0	0	1	0	0	0	4721	1232	43	3	40	3	DPH1	17	1933486	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		1933486	79261724	63	5248											
RNF167	26001	genome.wustl.edu	37	chr17	4844429	4844429	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctctgtttggggctAccttgagccaggagggcctc	13	12	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:4844429A>T	ENST00000262482.6	+	3	798	c.142A>T	c.(142-144)Acc>Tcc	p.T48S	RNF167_ENST00000575111.1_Missense_Mutation_p.T48S|RNF167_ENST00000572430.1_Missense_Mutation_p.T48S|RNF167_ENST00000570492.1_3'UTR|SLC25A11_ENST00000544061.2_5'Flank|RNF167_ENST00000576229.1_Missense_Mutation_p.T13S|RNF167_ENST00000571816.1_Missense_Mutation_p.T48S|SLC25A11_ENST00000225665.7_5'Flank	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	48					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GTTTGGGGCTACCTTGAGCCA	0.493																																																	0								ENSG00000108523						67	59	62					17																	4844429		2203	4300	6503	RNF167	SO:0001583	missense	0			-	HGNC	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"RING-type (C3HC4) zinc fingers"	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.142A>T	17.37:g.4844429A>T	ENSP00000262482:p.Thr48Ser	Somatic	0	35	0		0.566033689646954	182	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.T48S	ENST00000262482.6	37	c.142	CCDS11060.1	17	.	.	.	.	.	.	.	.	.	.	A	4.892	0.165808	0.09339	.	.	ENSG00000108523	ENST00000262482	T	0.03358	3.96	5.46	-4.31	0.03698	.	0.752361	0.12321	N	0.479222	T	0.00906	0.0030	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	10	0.06891	T	0.86	-0.4244	4.9709	0.14115	0.3072:0.0:0.4368:0.256	.	48	Q9H6Y7	RN167_HUMAN	S	48	ENSP00000262482:T48S	ENSP00000262482:T48S	T	+	1	0	RNF167	4785174	0.000000	0.05858	0.021000	0.16686	0.994000	0.84299	-0.659000	0.05323	-0.318000	0.08665	0.459000	0.35465	ACC	-	NULL		0.493	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF167	protein_coding	OTTHUMT00000216854.3	A	NM_015528	-		4844429	1	no_errors	ENST00000262482	ensembl	human	known	74_37	missense	SNP	0.003	T	T	4844429	A	T	4844429	3	4	93	1	0	0	0	0	1	0	0	0	13466	391	14	5	148	5	RNF167	17	4844429	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	2910943	4844429	76350781	64	5249											
TP53	7157	genome.wustl.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	12	7	0	0	rs587782664		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	GRCh37	CM011014	TP53	M		ENSG00000141510						130	102	112					17																	7577570		2203	4300	6503	TP53	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;	-	HGNC	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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	Somatic	0	40	0		0.566033689646954	4	92.98	53	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	8	77.78	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.M237I	ENST00000269305.4	37	c.711	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	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);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577570	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577570	C	T	7577570	3	4	93	1	0	0	0	0	1	0	0	0	16388	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	2733141	7577570	73617640	65	5250											
MFSD6L	162387	genome.wustl.edu	37	chr17	8701913	8701913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcctagctccttcaaCggagggcgctaagtagacgt	13	10	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:8701913C>T	ENST00000329805.4	-	1	754	c.526G>A	c.(526-528)Gtt>Att	p.V176I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	176						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCTCCTTCAACGGAGGGCGCT	0.532																																																	0								ENSG00000185156						122	113	116					17																	8701913		2203	4300	6503	MFSD6L	SO:0001583	missense	0			-	HGNC	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.526G>A	17.37:g.8701913C>T	ENSP00000330051:p.Val176Ile	Somatic	0	56	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	63	12.50	Q6YL34|Q8NA76	Missense_Mutation	SNP							superfamily_MFS_dom_general_subst_transpt	p.V176I	ENST00000329805.4	37	c.526	CCDS11146.1	17	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577926	0.28180	.	.	ENSG00000185156	ENST00000329805	T	0.44482	0.92	4.75	-4.98	0.03019	.	1.974330	0.03366	N	0.198280	T	0.31358	0.0794	M	0.63428	1.95	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.12760	-1.0535	10	0.12430	T	0.62	-13.3045	1.3981	0.02265	0.1323:0.2176:0.2364:0.4137	.	176	Q8IWD5	MFS6L_HUMAN	I	176	ENSP00000330051:V176I	ENSP00000330051:V176I	V	-	1	0	MFSD6L	8642638	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.043000	0.12043	-0.593000	0.05844	-0.175000	0.13238	GTT	-	NULL		0.532	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6L	protein_coding	OTTHUMT00000442554.1	C	NM_152599	-		8701913	-1	no_errors	ENST00000329805	ensembl	human	known	74_37	missense	SNP	0.000	T	T	8701913	C	T	8701913	3	4	93	1	0	0	0	0	1	0	0	0	9538	536	19	1	1238	1	MFSD6L	17	8701913	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	1124343	8701913	72493297	66	5251											
KRTAP4-11	653240	genome.wustl.edu	37	chr17	39274274	39274274	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcatctggggcggcagcaAgtgggctggcagcacataga	16	10	1	1	rs372676373	byFrequency	TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:39274274A>T	ENST00000391413.2	-	1	332	c.294T>A	c.(292-294)acT>acA	p.T98T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	98	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.C99fs*>97(1)|p.T98T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ggcggcagcaAGTGGGCTGGC	0.657																																																	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000212721						6	10	8					17																	39274274		662	1571	2233	KRTAP4-11	SO:0001819	synonymous_variant	0			-	HGNC	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.294T>A	17.37:g.39274274A>T		Somatic	0	95	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	49	45.92	A0AUY2	Silent	SNP							pfam_Keratin-assoc	p.T98	ENST00000391413.2	37	c.294	CCDS45675.1	17																																																																																			-	NULL		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-11	protein_coding	OTTHUMT00000257690.1	A		-		39274274	-1	no_errors	ENST00000391413	ensembl	human	known	74_37	silent	SNP	0.110	T	T	39274274	A	T	39274274	2	4	93	1	0	0	0	0	0	0	0	1	8551	59	3	5		5	KRTAP4-11	17	39274274	Silent	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	30572361	39274274	41920936	67	5252											
ITGA3	3675	genome.wustl.edu	37	chr17	48154746	48154746	+	Frame_Shift_Del	DEL	G	G	-													tcgccttctttcctcagcccGgggcctgccaagctaatgag							TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:48154746delG	ENST00000320031.8	+	16	2404	c.2074delG	c.(2074-2076)gggfs	p.G692fs	ITGA3_ENST00000007722.7_Frame_Shift_Del_p.G692fs	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	692					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCTCAGCCCGGGGCCTGCCA	0.592																																																	0								ENSG00000005884						97	90	92					17																	48154746		2203	4300	6503	ITGA3	SO:0001589	frameshift_variant	0				HGNC	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2074delG	17.37:g.48154746delG	ENSP00000315190:p.Gly692fs	Somatic	0	49	0		0.566033689646954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Frame_Shift_Del	DEL							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A693fs	ENST00000320031.8	37	c.2074	CCDS11558.1	17																																																																																			-	pfam_Integrin_alpha-2		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	protein_coding	OTTHUMT00000366298.1	G	NM_005501			48154746	1	no_errors	ENST00000320031	ensembl	human	known	74_37	frame_shift_del	DEL	0.455	-	-	48154746	G	-	48154746	7	5	93	1	0	1	0	1	0	0	0	0	7879	1116	39	0	2136	0	ITGA3	17	48154746	Frame_Shift_Del	DEL	G	TCGA-DX-A7EU-01A-22D-A36J-09	8880472	48154746	33040464	68	5253											
BTBD17	388419	genome.wustl.edu	37	chr17	72357877	72357877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccactgcccgctcacctgCatgggtgaccaggcccacca	10	19	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:72357877C>T	ENST00000375366.3	-	1	208	c.82G>A	c.(82-84)Gca>Aca	p.A28T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	28					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CGCTCACCTGCATGGGTGACC	0.692																																																	0								ENSG00000204347						51	40	44					17																	72357877		2203	4300	6503	BTBD17	SO:0001583	missense	0			-	HGNC		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.82G>A	17.37:g.72357877C>T	ENSP00000364515:p.Ala28Thr	Somatic	0	57	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77		Missense_Mutation	SNP							pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.A28T	ENST00000375366.3	37	c.82	CCDS32719.1	17	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870590	0.33069	.	.	ENSG00000204347	ENST00000375366	T	0.77877	-1.13	4.85	2.85	0.33270	.	0.261963	0.30949	N	0.008545	T	0.60287	0.2257	N	0.17082	0.46	0.34215	D	0.674745	B	0.15473	0.013	B	0.12837	0.008	T	0.63028	-0.6728	10	0.44086	T	0.13	.	8.9509	0.35788	0.0:0.8285:0.0:0.1715	.	28	A6NE02	BTBDH_HUMAN	T	28	ENSP00000364515:A28T	ENSP00000364515:A28T	A	-	1	0	BTBD17	69869472	0.651000	0.27340	0.986000	0.45419	0.201000	0.24016	0.909000	0.28558	1.056000	0.40484	0.558000	0.71614	GCA	-	NULL		0.692	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	protein_coding	OTTHUMT00000442542.1	C	NM_001080466	-		72357877	-1	no_errors	ENST00000375366	ensembl	human	known	74_37	missense	SNP	0.993	T	T	72357877	C	T	72357877	3	4	93	1	0	0	0	0	1	0	0	0	1544	710	25	2	1366	2	BTBD17	17	72357877	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	24203131	72357877	8837333	69	5254											
CD300LB	124599	genome.wustl.edu	37	chr17	72521968	72521968	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagtaaacatctgcgtcatCtcgcctgagcccctccatgg	8	16	3	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:72521968C>A	ENST00000392621.1	-	2	404	c.400G>T	c.(400-402)Gat>Tat	p.D134Y	CD300LB_ENST00000314401.3_Missense_Mutation_p.D134Y	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	97					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCTGCGTCATCTCGCCTGAGC	0.507																																																	0								ENSG00000178789						245	220	229					17																	72521968		2203	4300	6503	CD300LB	SO:0001583	missense	0			-	HGNC	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.400G>T	17.37:g.72521968C>A	ENSP00000376397:p.Asp134Tyr	Somatic	0	71	0		0.566033689646954	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.D134Y	ENST00000392621.1	37	c.400	CCDS11700.1	17	.	.	.	.	.	.	.	.	.	.	C	5.219	0.225888	0.09916	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.04917	3.53	5.17	-0.594	0.11664	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.155110	0.06495	N	0.735307	T	0.28234	0.0697	M	0.88450	2.955	0.09310	N	1	D;D	0.59357	0.967;0.985	P;D	0.67231	0.903;0.95	T	0.19386	-1.0307	10	0.87932	D	0	-16.8791	10.4168	0.44327	0.0:0.6555:0.0:0.3445	.	134;97	B4DQ71;A8K4G0	.;CLM7_HUMAN	Y	97;134	ENSP00000317337:D134Y	ENSP00000317337:D134Y	D	-	1	0	CD300LB	70033563	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.626000	0.02035	-0.241000	0.09681	-1.305000	0.01319	GAT	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.507	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300LB	protein_coding	OTTHUMT00000145082.2	C	NM_174892	-		72521968	-1	no_errors	ENST00000392621	ensembl	human	known	74_37	missense	SNP	0.000	A	A	72521968	C	A	72521968	3	1	93	1	0	0	0	0	1	0	0	0	3001	913	32	3	328	3	CD300LB	17	72521968	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	164091	72521968	8673242	70	5255											
FN3K	64122	genome.wustl.edu	37	chr17	80696429	80696429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcacgggcctggtgcGggtgccgaggcccatgaagg	19	11	0	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr17:80696429G>A	ENST00000300784.7	+	2	268	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	69					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGCCTGGTGCGGGTGCCGAGG	0.622																																					Melanoma(10;391 597 14592 32548 32749)												0								ENSG00000167363						57	60	59					17																	80696429		2203	4299	6502	FN3K	SO:0001583	missense	0			-	HGNC	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.206G>A	17.37:g.80696429G>A	ENSP00000300784:p.Arg69Gln	Somatic	0	39	0		0.566033689646954	34	19.05	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47		Missense_Mutation	SNP							pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.R69Q	ENST00000300784.7	37	c.206	CCDS11818.1	17	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245919	0.39697	.	.	ENSG00000167363	ENST00000300784;ENST00000457624;ENST00000536165	T	0.52526	0.66	4.93	3.96	0.45880	Protein kinase-like domain (1);	0.060136	0.64402	D	0.000006	T	0.47116	0.1428	M	0.64080	1.96	0.33252	D	0.558701	P;P	0.52061	0.903;0.95	B;P	0.44921	0.41;0.464	T	0.62987	-0.6737	9	.	.	.	-18.2467	11.2551	0.49050	0.0911:0.0:0.9089:0.0	.	69;24	Q9H479;B3KNR9	FN3K_HUMAN;.	Q	69;69;24	ENSP00000300784:R69Q	.	R	+	2	0	FN3K	78289718	0.175000	0.23083	0.019000	0.16419	0.072000	0.16883	2.304000	0.43655	1.207000	0.43291	0.585000	0.79938	CGG	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase		0.622	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	protein_coding	OTTHUMT00000439229.1	G	NM_022158	-		80696429	1	no_errors	ENST00000300784	ensembl	human	known	74_37	missense	SNP	0.840	A	A	80696429	G	A	80696429	3	1	93	1	0	0	0	0	1	0	0	0	5965	1116	39	1	212	1	FN3K	17	80696429	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	8174461	80696429	498781	71	5256											
CDH20	28316	genome.wustl.edu	37	chr18	59166690	59166690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacggaccttatgtggccaCtgtgccagaaatgtcccctg	12	12	0	1	rs565477850		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr18:59166690C>A	ENST00000262717.4	+	3	916	c.518C>A	c.(517-519)aCt>aAt	p.T173N	CDH20_ENST00000538374.1_Missense_Mutation_p.T173N|CDH20_ENST00000536675.2_Missense_Mutation_p.T173N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	173	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)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TATGTGGCCACTGTGCCAGAA	0.488																																																	0								ENSG00000101542						68	70	70					18																	59166690		2203	4300	6503	CDH20	SO:0001583	missense	0			-	HGNC	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.518C>A	18.37:g.59166690C>A	ENSP00000262717:p.Thr173Asn	Somatic	0	34	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	46	36.11	Q495S3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T173N	ENST00000262717.4	37	c.518	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626418	0.46840	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.52983	0.64;0.64;0.64	6.06	5.19	0.71726	Cadherin (4);Cadherin-like (1);	0.212130	0.49305	N	0.000157	T	0.35307	0.0927	N	0.12961	0.28	0.40351	D	0.979132	B	0.14012	0.009	B	0.23275	0.045	T	0.11299	-1.0593	10	0.42905	T	0.14	.	16.7608	0.85511	0.1302:0.8698:0.0:0.0	.	173	Q9HBT6	CAD20_HUMAN	N	173	ENSP00000444767:T173N;ENSP00000442226:T173N;ENSP00000262717:T173N	ENSP00000262717:T173N	T	+	2	0	CDH20	57317670	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.650000	0.54424	1.542000	0.49330	0.650000	0.86243	ACT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.488	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	protein_coding	OTTHUMT00000256141.2	C	NM_031891	-		59166690	1	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	SNP	0.994	A	A	59166690	C	A	59166690	3	1	93	1	0	0	0	0	1	0	0	0	3108	565	20	3	524	3	CDH20	18	59166690	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09		59166690	18910558	72	5257											
FBN3	84467	genome.wustl.edu	37	chr19	8131121	8131121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggtcagcagggcctcGgagtcaagggtggccaggtt	16	11	2	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:8131121G>A	ENST00000600128.1	-	64	8526	c.8112C>T	c.(8110-8112)tcC>tcT	p.S2704S	FBN3_ENST00000270509.2_Silent_p.S2704S|FBN3_ENST00000601739.1_Silent_p.S2704S			Q75N90	FBN3_HUMAN	fibrillin 3	2704						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGGCCTCGGAGTCAAGGG	0.662																																																	0								ENSG00000142449																																			FBN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8112C>T	19.37:g.8131121G>A		Somatic	0	76	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.S2704	ENST00000600128.1	37	c.8112	CCDS12196.1	19																																																																																			-	pirsf_FBN		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447	-		8131121	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	SNP	0.000	A	A	8131121	G	A	8131121	2	1	93	1	0	0	0	0	0	0	0	1	5706	1103	39	1		1	FBN3	19	8131121	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		8131121	50997862	73	5258											
ELAVL3	1995	genome.wustl.edu	37	chr19	11565658	11565658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcataccatcgatggCgatcggcgagaacctggcga	13	13	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:11565658C>T	ENST00000359227.3	-	7	1211	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	ELAVL3_ENST00000438662.2_Missense_Mutation_p.A256T	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	263					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCATCGATGGCGATCGGCGAG	0.682																																																	0								ENSG00000196361						96	107	103					19																	11565658		2203	4298	6501	ELAVL3	SO:0001583	missense	0			-	HGNC		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.787G>A	19.37:g.11565658C>T	ENSP00000352162:p.Ala263Thr	Somatic	0	43	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.A263T	ENST00000359227.3	37	c.787	CCDS32912.1	19	.	.	.	.	.	.	.	.	.	.	C	9.041	0.989614	0.18966	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08634	3.07;3.07	4.78	3.68	0.42216	.	0.050512	0.85682	D	0.000000	T	0.02193	0.0068	N	0.02665	-0.54	0.36000	D	0.837341	B;B	0.12013	0.001;0.005	B;B	0.06405	0.001;0.002	T	0.38845	-0.9642	10	0.02654	T	1	.	3.7517	0.08569	0.0:0.6373:0.0:0.3626	.	263;256	Q14576;Q14576-2	ELAV3_HUMAN;.	T	263;256	ENSP00000352162:A263T;ENSP00000390878:A256T	ENSP00000352162:A263T	A	-	1	0	ELAVL3	11426658	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.125000	0.50469	2.231000	0.72958	0.505000	0.49811	GCC	-	tigrfam_ELAD_HUD_SF		0.682	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	protein_coding	OTTHUMT00000458827.2	C	NM_001420	-		11565658	-1	no_errors	ENST00000359227	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11565658	C	T	11565658	3	4	93	1	0	0	0	0	1	0	0	0	5053	768	27	1	320	1	ELAVL3	19	11565658	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	3434537	11565658	47563325	74	5259											
HOOK2	29911	genome.wustl.edu	37	chr19	12874393	12874393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgctcccgctgactTcggcttttctcaaagtccat	6	15	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:12874393T>C	ENST00000397668.3	-	22	2032	c.1959A>G	c.(1957-1959)cgA>cgG	p.R653R	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Silent_p.R651R	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	653	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCCGCTGACTTCGGCTTTTCT	0.527																																																	0								ENSG00000095066						196	206	203					19																	12874393		2203	4300	6503	HOOK2	SO:0001819	synonymous_variant	0			-	HGNC	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1959A>G	19.37:g.12874393T>C		Somatic	0	40	0		0.566033689646954	24	41.46	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	35	37.50	O60562	Silent	SNP							pfam_Hook-related_fam,superfamily_UBA-like	p.R653	ENST00000397668.3	37	c.1959	CCDS42508.1	19																																																																																			-	pfam_Hook-related_fam		0.527	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	protein_coding	OTTHUMT00000451008.1	T	NM_013312	-		12874393	-1	no_errors	ENST00000397668	ensembl	human	known	74_37	silent	SNP	0.020	C	C	12874393	T	C	12874393	2	2	93	1	0	0	0	0	0	0	0	1	7285	1770	62	5		5	HOOK2	19	12874393	Silent	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09	1308735	12874393	46254590	75	5260											
CCDC105	126402	genome.wustl.edu	37	chr19	15132310	15132310	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcgctggcgcagaaggcGagcgagaccttggagctgaa	16	11	0	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:15132310G>A	ENST00000292574.3	+	4	1102	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	340						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCAGAAGGCGAGCGAGACCT	0.637																																																	0								ENSG00000160994						90	63	72					19																	15132310		2203	4300	6503	CCDC105	SO:0001819	synonymous_variant	0			-	HGNC	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1020G>A	19.37:g.15132310G>A		Somatic	0	41	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q8N7T5|Q8NDL5	Silent	SNP							pfam_Tektin	p.A340	ENST00000292574.3	37	c.1020	CCDS12322.1	19																																																																																			-	pfam_Tektin		0.637	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	protein_coding	OTTHUMT00000466293.1	G	NM_173482	-		15132310	1	no_errors	ENST00000292574	ensembl	human	known	74_37	silent	SNP	0.945	A	A	15132310	G	A	15132310	2	1	93	1	0	0	0	0	0	0	0	1	2742	1045	37	1		1	CCDC105	19	15132310	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	2257917	15132310	43996673	76	5261											
CCDC123	84902	genome.wustl.edu	37	chr19	33392250	33392250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttcttctgcgcttgcAggactgtcagcttctccatc	9	14	5	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:33392250A>G	ENST00000305768.5	-	15	1722	c.1634T>C	c.(1633-1635)cTg>cCg	p.L545P		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	545					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTGCGCTTGCAGGACTGTCAG	0.453																																																	0								ENSG00000121289						202	191	195					19																	33392250		2203	4300	6503	CEP89	SO:0001583	missense	0			-	HGNC	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1634T>C	19.37:g.33392250A>G	ENSP00000306105:p.Leu545Pro	Somatic	0	42	0		0.566033689646954	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B9EGA6|Q8N5J8	Missense_Mutation	SNP							NULL	p.L545P	ENST00000305768.5	37	c.1634	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471464	0.43942	.	.	ENSG00000121289	ENST00000305768	D	0.89875	-2.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94174	0.7426	10	0.46703	T	0.11	-10.7695	14.9292	0.70903	1.0:0.0:0.0:0.0	.	545	Q96ST8	CEP89_HUMAN	P	545	ENSP00000306105:L545P	ENSP00000306105:L545P	L	-	2	0	CEP89	38084090	0.997000	0.39634	0.856000	0.33681	0.042000	0.13812	4.962000	0.63687	2.059000	0.61396	0.528000	0.53228	CTG	-	NULL		0.453	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	protein_coding	OTTHUMT00000451300.2	A	NM_032816	-		33392250	-1	no_errors	ENST00000305768	ensembl	human	known	74_37	missense	SNP	0.997	G	G	33392250	A	G	33392250	3	3	93	1	0	0	0	0	1	0	0	0	2761	188	7	5	737	5	CCDC123	19	33392250	Missense_Mutation	SNP	A	TCGA-DX-A7EU-01A-22D-A36J-09	18259940	33392250	25736733	77	5262											
SHANK1	50944	genome.wustl.edu	37	chr19	51217492	51217492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccttgtccagcagccgcGccaccttgtcagatgtcccg	10	18	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:51217492G>A	ENST00000293441.1	-	4	605	c.587C>T	c.(586-588)gCg>gTg	p.A196V	SHANK1_ENST00000359082.3_Missense_Mutation_p.A196V|SHANK1_ENST00000391814.1_Missense_Mutation_p.A196V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	196					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)			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)		CAGCAGCCGCGCCACCTTGTC	0.592																																																	0								ENSG00000161681						66	54	58					19																	51217492		2203	4300	6503	SHANK1	SO:0001583	missense	0			-	HGNC	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.587C>T	19.37:g.51217492G>A	ENSP00000293441:p.Ala196Val	Somatic	0	67	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A196V	ENST00000293441.1	37	c.587	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239205	0.58995	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.64803	-0.12;-0.12;-0.12	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.201872	0.28677	U	0.014512	T	0.41282	0.1152	N	0.13198	0.31	0.43183	D	0.995006	P	0.43519	0.809	B	0.34093	0.175	T	0.47209	-0.9135	10	0.35671	T	0.21	-8.8376	15.7532	0.78005	0.0:0.0:1.0:0.0	.	196	Q9Y566	SHAN1_HUMAN	V	196	ENSP00000293441:A196V;ENSP00000351984:A196V;ENSP00000375690:A196V	ENSP00000293441:A196V	A	-	2	0	SHANK1	55909304	0.982000	0.34865	0.950000	0.38849	0.968000	0.65278	2.603000	0.46266	2.459000	0.83118	0.561000	0.74099	GCG	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.592	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	G	NM_016148	-		51217492	-1	no_errors	ENST00000391814	ensembl	human	known	74_37	missense	SNP	0.985	A	A	51217492	G	A	51217492	3	1	93	1	0	0	0	0	1	0	0	0	14272	1087	38	1	5978	1	SHANK1	19	51217492	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	17825242	51217492	7911491	78	5263											
ZNF610	162963	genome.wustl.edu	37	chr19	52869325	52869325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatactgcagagaaacctTacaaatgtactgaatgtggc	8	9	0	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:52869325T>C	ENST00000403906.3	+	6	1150	c.694T>C	c.(694-696)Tac>Cac	p.Y232H	ZNF610_ENST00000327920.8_Missense_Mutation_p.Y232H|ZNF610_ENST00000601151.1_Missense_Mutation_p.Y189H|ZNF610_ENST00000321287.8_Missense_Mutation_p.Y232H	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	232					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAGAAACCTTACAAATGTAC	0.383																																																	0								ENSG00000167554						68	68	68					19																	52869325		2203	4300	6503	ZNF610	SO:0001583	missense	0			-	HGNC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.694T>C	19.37:g.52869325T>C	ENSP00000383922:p.Tyr232His	Somatic	0	40	0		0.566033689646954	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y232H	ENST00000403906.3	37	c.694	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588361	0.46110	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.21734	1.99;1.99	1.82	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38241	0.1033	M	0.66560	2.04	0.09310	N	1	D;D	0.59357	0.981;0.985	P;D	0.63703	0.864;0.917	T	0.08086	-1.0739	9	0.62326	D	0.03	.	8.4	0.32581	0.0:0.0:0.0:1.0	.	189;232	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	H	232;189;232	ENSP00000383922:Y232H;ENSP00000327597:Y232H	ENSP00000324441:Y189H	Y	+	1	0	ZNF610	57561137	0.031000	0.19500	0.001000	0.08648	0.017000	0.09413	2.447000	0.44917	0.815000	0.34398	0.383000	0.25322	TAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	protein_coding	OTTHUMT00000462880.1	T	NM_173530	-		52869325	1	no_errors	ENST00000321287	ensembl	human	known	74_37	missense	SNP	0.068	C	C	52869325	T	C	52869325	3	2	93	1	0	0	0	0	1	0	0	0	18043	1754	61	5	708	5	ZNF610	19	52869325	Missense_Mutation	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09	1651833	52869325	6259658	79	5264											
NLRP4	147945	genome.wustl.edu	37	chr19	56369983	56369983	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctgcagagggtatgtgGacagacacatttgagttttg	14	6	0	3			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr19:56369983G>A	ENST00000301295.6	+	3	1646	c.1224G>A	c.(1222-1224)tgG>tgA	p.W408*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.W408*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.W333*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	408	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGTATGTGGACAGACACAT	0.567																																																	0								ENSG00000160505						90	91	91					19																	56369983		2203	4300	6503	NLRP4	SO:0001587	stop_gained	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1224G>A	19.37:g.56369983G>A	ENSP00000301295:p.Trp408*	Somatic	0	68	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	Q86W87|Q96AY6	Nonsense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.W408*	ENST00000301295.6	37	c.1224	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.038787	0.98624	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1952	0.65667	0.0:0.0:1.0:0.0	.	.	.	.	X	408	.	ENSP00000301295:W408X	W	+	3	0	NLRP4	61061795	0.985000	0.35326	0.977000	0.42913	0.392000	0.30506	1.829000	0.39121	2.273000	0.75805	0.650000	0.86243	TGG	-	NULL		0.567	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444	-		56369983	1	no_errors	ENST00000301295	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	56369983	G	A	56369983	4	1	93	1	0	0	0	0	0	1	0	0	10481	1183	41	2	1230	2	NLRP4	19	56369983	Nonsense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	3500658	56369983	2759000	80	5265											
C20orf194	25943	genome.wustl.edu	37	chr20	3305587	3305587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaggaatctaacccagatCccagagtttgctctgctacc	7	13	2	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr20:3305587C>T	ENST00000252032.9	-	14	1284	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	C20orf194_ENST00000453730.2_Missense_Mutation_p.G144E	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	406										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAACCCAGATCCCAGAGTTTG	0.408																																																	0								ENSG00000088854						105	110	108					20																	3305587		1861	4105	5966	C20orf194	SO:0001583	missense	0			-	HGNC	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1217G>A	20.37:g.3305587C>T	ENSP00000252032:p.Gly406Glu	Somatic	0	58	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	69	8.00	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP							NULL	p.G406E	ENST00000252032.9	37	c.1217	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	0.507	-0.868358	0.02590	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.28255	2.3;1.62	5.34	-2.06	0.07298	.	1.030850	0.07619	N	0.926750	T	0.12178	0.0296	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.30416	-0.9979	10	0.02654	T	1	.	2.1331	0.03754	0.2213:0.2986:0.3273:0.1527	.	145;406	Q0IIP3;Q5TEA3	.;CT194_HUMAN	E	406;144	ENSP00000252032:G406E;ENSP00000407229:G144E	ENSP00000252032:G406E	G	-	2	0	C20orf194	3253587	0.000000	0.05858	0.401000	0.26359	0.994000	0.84299	-0.094000	0.11094	-0.166000	0.10890	0.655000	0.94253	GGA	-	NULL		0.408	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	protein_coding	OTTHUMT00000077734.1	C	NM_001009984	-		3305587	-1	no_errors	ENST00000252032	ensembl	human	known	74_37	missense	SNP	0.004	T	T	3305587	C	T	3305587	3	4	93	1	0	0	0	0	1	0	0	0	2101	855	30	2	2412	2	C20orf194	20	3305587	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09		3305587	59719933	81	5266											
C20orf26	26074	genome.wustl.edu	37	chr20	20258030	20258030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggcccagtggaatgaCggcctgcacccagaccccat	10	16	0	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr20:20258030C>T	ENST00000245957.5	+	22	2800	c.2724C>T	c.(2722-2724)gaC>gaT	p.D908D	C20orf26_ENST00000377309.2_Silent_p.D264D	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		908										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)		AGTGGAATGACGGCCTGCACC	0.612																																																	0								ENSG00000089101						125	112	116					20																	20258030		2203	4300	6503	C20orf26	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000245957.5:c.2724C>T	20.37:g.20258030C>T		Somatic	0	44	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP							superfamily_Acyl_CoA_acyltransferase	p.D908	ENST00000245957.5	37	c.2724	CCDS33447.1	20																																																																																			-	NULL		0.612	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	protein_coding	OTTHUMT00000078228.3	C		-		20258030	1	no_errors	ENST00000245957	ensembl	human	known	74_37	silent	SNP	0.000	T	T	20258030	C	T	20258030	2	4	93	1	0	0	0	0	0	0	0	1	2108	535	19	1		1	C20orf26	20	20258030	Silent	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	16952443	20258030	42767490	82	5267											
PRIC285	85441	genome.wustl.edu	37	chr20	62195106	62195106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccccatggcccagcGccagcaggatctgccgctgc	12	18	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr20:62195106G>A	ENST00000467148.1	-	8	5138	c.5069C>T	c.(5068-5070)gCg>gTg	p.A1690V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A1121V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1690					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ATGGCCCAGCGCCAGCAGGAT	0.672																																																	0								ENSG00000130589						12	13	13					20																	62195106		2174	4279	6453	HELZ2	SO:0001583	missense	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5069C>T	20.37:g.62195106G>A	ENSP00000417401:p.Ala1690Val	Somatic	0	47	0		0.566033689646954	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	77	31.86	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.A1690V	ENST00000467148.1	37	c.5069	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.139012	0.00335	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.35605	1.3;1.3	4.93	0.238	0.15480	Ribonuclease II/R (2);	0.495041	0.21881	N	0.067727	T	0.21227	0.0511	L	0.39326	1.205	0.18873	N	0.999985	B;B	0.25904	0.137;0.112	B;B	0.19946	0.027;0.024	T	0.33317	-0.9873	10	0.02654	T	1	-27.7587	10.0559	0.42244	0.4596:0.0:0.5404:0.0	.	1690;1121	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	1121;1690	ENSP00000393257:A1121V;ENSP00000417401:A1690V	ENSP00000393257:A1121V	A	-	2	0	RP4-697K14.7	61665550	0.076000	0.21285	0.037000	0.18230	0.023000	0.10783	1.205000	0.32308	0.070000	0.16634	-0.424000	0.05967	GCG	-	NULL		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	G	NM_001037335	-		62195106	-1	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	SNP	0.008	A	A	62195106	G	A	62195106	3	1	93	1	0	0	0	0	1	0	0	0	12490	1087	38	1	2928	1	PRIC285	20	62195106	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	41937076	62195106	830414	83	5268											
KRTAP24-1	643803	genome.wustl.edu	37	chr21	31654516	31654516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggtctgctaccactGcacaaatacctcagaggtgg	10	11	3	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr21:31654516G>A	ENST00000340345.4	-	1	760	c.735C>T	c.(733-735)tgC>tgT	p.C245C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	245	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCTACCACTGCACAAATACC	0.453																																																	0								ENSG00000188694						89	86	87					21																	31654516		1840	4096	5936	KRTAP24-1	SO:0001819	synonymous_variant	0			-	HGNC	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.735C>T	21.37:g.31654516G>A		Somatic	0	37	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q1XDX0	Silent	SNP							pfam_KRTAP_PMG	p.C245	ENST00000340345.4	37	c.735	CCDS42915.1	21																																																																																			-	NULL		0.453	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	protein_coding	OTTHUMT00000246806.2	G	NM_001085455	-		31654516	-1	no_errors	ENST00000340345	ensembl	human	known	74_37	silent	SNP	0.979	A	A	31654516	G	A	31654516	2	1	93	1	0	0	0	0	0	0	0	1	8544	1311	46	2		2	KRTAP24-1	21	31654516	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		31654516	16475379	84	5269											
WRB	7485	genome.wustl.edu	37	chr21	40763742	40763742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataaaatgggtgataagtGtcgctttctacgtattgcag	11	5	1	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr21:40763742G>T	ENST00000333781.5	+	3	457	c.316G>T	c.(316-318)Gtc>Ttc	p.V106F	WRB_ENST00000380708.1_Missense_Mutation_p.V72F|WRB_ENST00000541890.1_Missense_Mutation_p.V106F|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000398753.1_Missense_Mutation_p.V72F	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	106					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(3)	3		Prostate(19;1.2e-06)				GGTGATAAGTGTCGCTTTCTA	0.463																																																	0								ENSG00000182093						124	118	120					21																	40763742		2203	4300	6503	WRB	SO:0001583	missense	0			-	HGNC		CCDS13664.1, CCDS54485.1	21q22.3	2007-10-04			ENSG00000182093	ENSG00000182093			12790	protein-coding gene	gene with protein product		602915				9544840	Standard	NM_004627		Approved	CHD5	uc002yxs.3	O00258	OTTHUMG00000066250	ENST00000333781.5:c.316G>T	21.37:g.40763742G>T	ENSP00000327716:p.Val106Phe	Somatic	0	31	0		0.566033689646954	55	11.29	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP							NULL	p.V106F	ENST00000333781.5	37	c.316	CCDS13664.1	21	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890512	0.33348	.	.	ENSG00000182093	ENST00000333781;ENST00000541890;ENST00000398753;ENST00000380713;ENST00000380708	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.33	4.33	0.51752	.	0.052759	0.64402	D	0.000001	T	0.25531	0.0621	N	0.08118	0	0.46437	D	0.999045	D;P	0.56287	0.975;0.611	P;B	0.53062	0.717;0.234	T	0.18524	-1.0334	10	0.10111	T	0.7	-20.5952	3.9712	0.09454	0.2691:0.0:0.7309:0.0	.	106;106	B4DRG4;O00258	.;WRB_HUMAN	F	106;106;72;72;72	ENSP00000327716:V106F;ENSP00000445363:V106F;ENSP00000381737:V72F;ENSP00000370089:V72F;ENSP00000370084:V72F	ENSP00000327716:V106F	V	+	1	0	WRB	39685612	1.000000	0.71417	0.403000	0.26384	0.310000	0.27922	6.511000	0.73733	2.480000	0.83734	0.650000	0.86243	GTC	-	NULL		0.463	WRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRB	protein_coding	OTTHUMT00000141745.3	G		-		40763742	1	no_errors	ENST00000333781	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40763742	G	T	40763742	3	4	93	1	0	0	0	0	1	0	0	0	17408	1377	48	3	326	3	WRB	21	40763742	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	9109226	40763742	7366153	85	5270											
USP18	11274	genome.wustl.edu	37	chr22	18652696	18652696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgtgggaagaagacccGtgggaaacaggtactcattc	13	8	1	2	rs373096161		TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr22:18652696G>A	ENST00000215794.7	+	7	1143	c.713G>A	c.(712-714)cGt>cAt	p.R238H		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	238	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						AAGAAGACCCGTGGGAAACAG	0.522																																																	0								ENSG00000184979						38	34	35					22																	18652696		2201	4296	6497	USP18	SO:0001583	missense	0			-	HGNC	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.713G>A	22.37:g.18652696G>A	ENSP00000215794:p.Arg238His	Somatic	0	87	0		0.566033689646954	7	30	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	91	13.33	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R238H	ENST00000215794.7	37	c.713	CCDS13752.1	22	.	.	.	.	.	.	.	.	.	.	.	11.94	1.789326	0.31685	.	.	ENSG00000184979	ENST00000215794;ENST00000441683	T	0.05786	3.39	5.22	-6.43	0.01926	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.281510	0.05094	N	0.485846	T	0.05547	0.0146	L	0.49778	1.585	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.47446	-0.9117	10	0.62326	D	0.03	.	2.0616	0.03593	0.3201:0.3524:0.2141:0.1134	.	238	Q9UMW8	UBP18_HUMAN	H	238;70	ENSP00000215794:R238H	ENSP00000215794:R238H	R	+	2	0	USP18	17032696	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-1.724000	0.01865	-0.650000	0.05423	-0.254000	0.11334	CGT	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.522	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP18	protein_coding	OTTHUMT00000316368.1	G		-		18652696	1	no_errors	ENST00000215794	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18652696	G	A	18652696	3	1	93	1	0	0	0	0	1	0	0	0	17056	1145	40	1	735	1	USP18	22	18652696	Missense_Mutation	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		18652696	32651870	86	5271											
DGCR8	54487	genome.wustl.edu	37	chr22	20077333	20077333	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgggaacgggaagcatacGggtaggggaggcatcagtcg	18	7	1	0			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr22:20077333G>T	ENST00000351989.3	+	4	1451	c.1022G>T	c.(1021-1023)cGg>cTg	p.R341L	DGCR8_ENST00000407755.1_Splice_Site_p.R341L|DGCR8_ENST00000383024.2_Splice_Site_p.R341L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	341	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGAAGCATACGGGTAGGGGAG	0.542																																																	0								ENSG00000128191						138	125	130					22																	20077333		2203	4300	6503	DGCR8	SO:0001630	splice_region_variant	0			-	HGNC	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1023+1G>T	22.37:g.20077333G>T		Somatic	0	32	0		0.566033689646954	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP							pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.R341L	ENST00000351989.3	37	c.1022	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.589108	0.96590	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.53206	0.69;0.63;0.63	5.68	5.68	0.88126	.	0.048535	0.85682	D	0.000000	T	0.73040	0.3536	M	0.82823	2.61	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.992;0.923	T	0.76380	-0.2980	10	0.87932	D	0	-10.7924	19.3812	0.94536	0.0:0.0:1.0:0.0	.	341;341	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	341	ENSP00000263209:R341L;ENSP00000372488:R341L;ENSP00000384726:R341L	ENSP00000263209:R341L	R	+	2	0	DGCR8	18457333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.972000	0.93424	2.677000	0.91161	0.650000	0.86243	CGG	-	NULL		0.542	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	protein_coding	OTTHUMT00000318654.1	G		-	Missense_Mutation	20077333	1	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20077333	G	T	20077333	5	4	93	1	0	0	0	0	0	0	1	0	4466	1130	39	3	1032	3	DGCR8	22	20077333	Splice_Site	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09	1424637	20077333	31227233	87	5272											
PATZ1	23598	genome.wustl.edu	37	chr22	31723052	31723052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggggcccccgagagccCggacatgcaccttctggatg	14	15	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr22:31723052C>T	ENST00000266269.5	-	5	2518	c.1889G>A	c.(1888-1890)cGg>cAg	p.R630Q	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.R584Q|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	630					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCGAGAGCCCGGACATGCAC	0.562																																																	0								ENSG00000100105						97	103	101					22																	31723052		2203	4300	6503	PATZ1	SO:0001583	missense	0			-	HGNC	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1889G>A	22.37:g.31723052C>T	ENSP00000266269:p.Arg630Gln	Somatic	0	50	0		0.566033689646954	20	20	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R630Q	ENST00000266269.5	37	c.1889	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289713	0.80914	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.09073	3.02;3.06	5.58	5.58	0.84498	.	0.182069	0.37393	N	0.002113	T	0.06280	0.0162	N	0.14661	0.345	0.80722	D	1	B;P	0.51351	0.248;0.944	B;B	0.36808	0.007;0.233	T	0.30268	-0.9984	10	0.72032	D	0.01	-11.1428	18.555	0.91080	0.0:1.0:0.0:0.0	.	584;630	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	Q	630;584	ENSP00000266269:R630Q;ENSP00000337520:R584Q	ENSP00000266269:R630Q	R	-	2	0	PATZ1	30053052	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.251000	0.43187	2.616000	0.88540	0.650000	0.86243	CGG	-	NULL		0.562	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	protein_coding	OTTHUMT00000321932.1	C	NM_032052	-		31723052	-1	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31723052	C	T	31723052	3	4	93	1	0	0	0	0	1	0	0	0	11478	652	23	1	178	1	PATZ1	22	31723052	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	11645719	31723052	19581514	88	5273											
CPT1B	1375	genome.wustl.edu	37	chr22	51007780	51007780	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccttcagctgtaggccTtgggaacttggaaaagatca	10	10	2	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chr22:51007780T>A	ENST00000360719.2	-	19	2443	c.2306A>T	c.(2305-2307)aAg>aTg	p.K769M	CPT1B_ENST00000312108.7_Missense_Mutation_p.K769M|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.K688M|CPT1B_ENST00000434492.2_Missense_Mutation_p.K564M|CPT1B_ENST00000457250.1_Missense_Mutation_p.K735M|CPT1B_ENST00000395650.2_Missense_Mutation_p.K769M|CPT1B_ENST00000405237.3_Missense_Mutation_p.K769M	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	769					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCTGTAGGCCTTGGGAACTTG	0.572																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0								ENSG00000205560						134	129	131					22																	51007780		2203	4300	6503	CPT1B	SO:0001583	missense	0			-	HGNC	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2306A>T	22.37:g.51007780T>A	ENSP00000353945:p.Lys769Met	Somatic	0	74	0		0.566033689646954	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP							pfam_Carn_acyl_trans	p.K769M	ENST00000360719.2	37	c.2306	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588654	0.46110	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.86097	-2.02;-2.02;-2.02;-1.94;-2.07;-1.79;-2.02	5.11	5.11	0.69529	.	1.324110	0.04547	N	0.389220	D	0.90484	0.7019	L	0.48986	1.54	0.50039	D	0.999845	D;D;D;D	0.76494	0.986;0.97;0.974;0.999	P;P;P;D	0.64042	0.65;0.811;0.598;0.921	T	0.80094	-0.1526	10	0.87932	D	0	-22.5681	11.3161	0.49392	0.0:0.0:0.0:1.0	.	688;735;564;769	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	M	769;769;769;735;688;564;769	ENSP00000385486:K769M;ENSP00000312189:K769M;ENSP00000353945:K769M;ENSP00000409342:K735M;ENSP00000414713:K688M;ENSP00000410966:K564M;ENSP00000379011:K769M	ENSP00000312189:K769M	K	-	2	0	CPT1B	49354646	0.439000	0.25610	0.994000	0.49952	0.038000	0.13279	2.766000	0.47629	1.926000	0.55796	0.459000	0.35465	AAG	-	NULL		0.572	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	protein_coding	OTTHUMT00000317264.5	T	NM_152246	-		51007780	-1	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	SNP	0.980	A	A	51007780	T	A	51007780	3	1	93	1	0	0	0	0	1	0	0	0	3834	1609	56	5	16	5	CPT1B	22	51007780	Missense_Mutation	SNP	T	TCGA-DX-A7EU-01A-22D-A36J-09	19284728	51007780	296786	89	5274											
ARSE	415	genome.wustl.edu	37	chrX	2864082	2864082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttgtccccatacagcccGtggagactcttcccgaggaa	10	14	1	1			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chrX:2864082G>A	ENST00000381134.3	-	7	1014	c.948C>T	c.(946-948)caC>caT	p.H316H	ARSE_ENST00000545496.1_Silent_p.H341H|ARSE_ENST00000540563.1_Silent_p.H271H	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	316					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				CATACAGCCCGTGGAGACTCT	0.483																																																	0								ENSG00000157399						117	104	108					X																	2864082		2203	4300	6503	ARSE	SO:0001819	synonymous_variant	0			-	HGNC	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.948C>T	X.37:g.2864082G>A		Somatic	0	76	0		0.566033689646954	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	Q53FT2|Q53FU8	Silent	SNP							pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.H341	ENST00000381134.3	37	c.1023	CCDS14122.1	X																																																																																			-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.483	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	protein_coding	OTTHUMT00000055643.1	G	NM_000047	-		2864082	-1	no_errors	ENST00000545496	ensembl	human	known	74_37	silent	SNP	0.789	A	A	2864082	G	A	2864082	2	1	93	1	0	0	0	0	0	0	0	1	990	1136	40	1		1	ARSE	23	2864082	Silent	SNP	G	TCGA-DX-A7EU-01A-22D-A36J-09		2864082	152406478	90	5275											
WDR45	11152	genome.wustl.edu	37	chrX	48932827	48932827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgttcttggaagtattgCgaccgaaggcgcagatgcaa	13	8	1	2			TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chrX:48932827C>T	ENST00000376372.3	-	10	1122	c.941G>A	c.(940-942)cGc>cAc	p.R314H	WDR45_ENST00000553851.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.R325H|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000485908.1_Missense_Mutation_p.R279H|WDR45_ENST00000376368.2_Missense_Mutation_p.R315H|WDR45_ENST00000396681.4_Missense_Mutation_p.R300H|WDR45_ENST00000356463.3_Missense_Mutation_p.R315H|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000491199.1_5'Flank|PRAF2_ENST00000376390.4_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	314					autophagy (GO:0006914)|cell death (GO:0008219)			p.R315H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGAAGTATTGCGACCGAAGGC	0.577																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000196998						72	59	63					X																	48932827		2203	4300	6503	WDR45	SO:0001583	missense	0			-	HGNC	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.941G>A	X.37:g.48932827C>T	ENSP00000365551:p.Arg314His	Somatic	0	33	0		0.566033689646954	674	0.59	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	13.33	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R325H	ENST00000376372.3	37	c.974	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330599	0.41297	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.09	3.12	0.35913	.	0.157867	0.43260	D	0.000589	T	0.52933	0.1765	N	0.04508	-0.205	0.30259	N	0.793321	P;P;P;B	0.51057	0.941;0.628;0.862;0.002	B;B;B;B	0.43728	0.333;0.115;0.429;0.004	T	0.54077	-0.8347	10	0.30078	T	0.28	-12.9519	5.3767	0.16170	0.2032:0.6827:0.0:0.1141	.	325;279;315;314	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	H	314;325;315;279;315;300	ENSP00000365551:R314H;ENSP00000365543:R325H;ENSP00000348848:R315H;ENSP00000419897:R279H;ENSP00000365546:R315H;ENSP00000379913:R300H	ENSP00000365543:R325H	R	-	2	0	WDR45	48819771	0.998000	0.40836	0.999000	0.59377	0.994000	0.84299	3.158000	0.50723	1.968000	0.57251	0.409000	0.27619	CGC	-	NULL		0.577	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	protein_coding	OTTHUMT00000083418.2	C	NM_007075	-		48932827	-1	no_errors	ENST00000322995	ensembl	human	known	74_37	missense	SNP	0.998	T	T	48932827	C	T	48932827	3	4	93	1	0	0	0	0	1	0	0	0	17304	768	27	1	149	1	WDR45	23	48932827	Missense_Mutation	SNP	C	TCGA-DX-A7EU-01A-22D-A36J-09	46068745	48932827	106337733	91	5276											
ATRX	546	genome.wustl.edu	37	chrX	76872085	76872086	+	Frame_Shift_Ins	INS	-	-	A													aggtgtattgtttacctgttINSaagtgatctaagtagtactg							TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chrX:76872085_76872086insA	ENST00000373344.5	-	22	5775_5776	c.5561_5562insT	c.(5560-5562)ttafs	p.L1854fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L1816fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1854					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTTTACCTGTTAAGTGATCTAA	0.332			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5562dupT	X.37:g.76872087_76872087dupA	ENSP00000362441:p.Leu1854fs	Somatic	0	106	0		0.566033689646954	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	46.15	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1854fs	ENST00000373344.5	37	c.5562_5561	CCDS14434.1	X																																																																																			-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.332	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	-	NM_000489			76872086	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	76872086	-	A	76872085	7	5	93	1	0	1	1	0	0	0	0	0	1208	1751	61	0	1972	0	ATRX	23	76872085	Frame_Shift_Ins	INS	-	TCGA-DX-A7EU-01A-22D-A36J-09	27939258	76872085	78398475	92	5277											
ZNF75D	7626	genome.wustl.edu	37	chrX	134427799	134427799	+	Frame_Shift_Del	DEL	C	C	-													ctgctctaacaccagcatttCcaagatctgctcttttgagt							TCGA-DX-A7EU-01A-22D-A36J-09	TCGA-DX-A7EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc	e53ef50a-f7fe-49d0-a177-771e1fad6e10	g.chrX:134427799delC	ENST00000370766.3	-	3	2977	c.268delG	c.(268-270)gaafs	p.E90fs	ZNF75D_ENST00000370764.1_Frame_Shift_Del_p.E90fs|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	90	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			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						ACCAGCATTTCCAAGATCTGC	0.498																																																	0								ENSG00000186376						84	74	77					X																	134427799		2203	4300	6503	ZNF75D	SO:0001589	frameshift_variant	0				HGNC	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.268delG	X.37:g.134427799delC	ENSP00000359802:p.Glu90fs	Somatic	0	37	0		0.566033689646954	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Frame_Shift_Del	DEL							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E90fs	ENST00000370766.3	37	c.268	CCDS14648.1	X																																																																																			-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.498	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	protein_coding	OTTHUMT00000058415.1	C	NM_007131			134427799	-1	no_errors	ENST00000370766	ensembl	human	known	74_37	frame_shift_del	DEL	0.728	-	-	134427799	C	-	134427799	7	5	93	1	0	1	0	1	0	0	0	0	18141	864	30	0	1284	0	ZNF75D	23	134427799	Frame_Shift_Del	DEL	C	TCGA-DX-A7EU-01A-22D-A36J-09	57555714	134427799	20842761	93	5278											
PLA2G2F	64600	genome.wustl.edu	37	chr1	20474783	20474783	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccgagaggagtaccgtggCttcctcaatgtctactgcca	10	12	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:20474783C>A	ENST00000375102.3	+	5	627	c.525C>A	c.(523-525)ggC>ggA	p.G175G		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	132					glycerophospholipid biosynthetic process (GO:0046474)|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)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGTACCGTGGCTTCCTCAATG	0.577																																																	0								ENSG00000158786						179	148	158					1																	20474783		2203	4300	6503	PLA2G2F	SO:0001819	synonymous_variant	0			-	HGNC	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.525C>A	1.37:g.20474783C>A		Somatic	0	34	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	Q5R385|Q8N217|Q9H506	Silent	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.G175	ENST00000375102.3	37	c.525	CCDS204.2	1																																																																																			-	superfamily_PLipase_A2_dom,smart_PLipase_A2_dom		0.577	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2F	protein_coding	OTTHUMT00000007687.1	C	NM_022819	-		20474783	1	no_errors	ENST00000375102	ensembl	human	known	74_37	silent	SNP	0.312	A	A	20474783	C	A	20474783	2	1	94	1	0	0	0	0	0	0	0	1	12001	784	28	3		3	PLA2G2F	1	20474783	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		20474783	228775838	1	5279											
HOOK1	51361	genome.wustl.edu	37	chr1	60302603	60302603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttggagaattggagcAacaggtgagtattttagtat	13	3	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:60302603A>C	ENST00000371208.3	+	7	790	c.533A>C	c.(532-534)cAa>cCa	p.Q178P	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q136P	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	178	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAATTGGAGCAACAGGTGAGT	0.318																																																	0								ENSG00000134709						90	101	97					1																	60302603		2203	4300	6503	HOOK1	SO:0001583	missense	0			-	HGNC	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.533A>C	1.37:g.60302603A>C	ENSP00000360252:p.Gln178Pro	Somatic	0	137	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	159	11.17	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP							pfam_Hook-related_fam,superfamily_Prefoldin	p.Q178P	ENST00000371208.3	37	c.533	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.283995	0.40394	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.18960	2.18;2.18	5.71	5.71	0.89125	.	0.363249	0.33290	N	0.005062	T	0.21427	0.0516	L	0.47716	1.5	0.46222	D	0.998932	P	0.35527	0.507	B	0.40038	0.317	T	0.04635	-1.0937	10	0.24483	T	0.36	.	10.0721	0.42339	0.9245:0.0:0.0755:0.0	.	178	Q9UJC3	HOOK1_HUMAN	P	178;136	ENSP00000360252:Q178P;ENSP00000378928:Q136P	ENSP00000360252:Q178P	Q	+	2	0	HOOK1	60075191	0.738000	0.28186	0.994000	0.49952	0.947000	0.59692	3.151000	0.50670	2.185000	0.69588	0.528000	0.53228	CAA	-	pfam_Hook-related_fam		0.318	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	protein_coding	OTTHUMT00000024934.1	A	NM_015888	-		60302603	1	no_errors	ENST00000371208	ensembl	human	known	74_37	missense	SNP	0.802	C	C	60302603	A	C	60302603	3	2	94	1	0	0	0	0	1	0	0	0	7284	130	5	5	559	5	HOOK1	1	60302603	Missense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09	39827820	60302603	188948018	2	5280											
TCHHL1	126637	genome.wustl.edu	37	chr1	152059969	152059969	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaactgatgatgccattactGtcaatattcagaagatttga	7	6	2	5			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:152059969G>C	ENST00000368806.1	-	3	253	c.189C>G	c.(187-189)gaC>gaG	p.D63E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	63	EF-hand.						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)			TGCCATTACTGTCAATATTCA	0.343																																																	0								ENSG00000182898						63	59	61					1																	152059969		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.189C>G	1.37:g.152059969G>C	ENSP00000357796:p.Asp63Glu	Somatic	0	26	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.D63E	ENST00000368806.1	37	c.189	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.342369	0.24339	.	.	ENSG00000182898	ENST00000368806	T	0.17528	2.27	5.3	2.01	0.26516	EF-hand-like domain (1);	0.376138	0.19302	N	0.117610	T	0.09247	0.0228	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	P	0.57152	0.814	T	0.08700	-1.0709	10	0.51188	T	0.08	-5.6773	5.1961	0.15239	0.4192:0.0:0.5808:0.0	.	63	Q5QJ38	TCHL1_HUMAN	E	63	ENSP00000357796:D63E	ENSP00000357796:D63E	D	-	3	2	TCHHL1	150326593	0.009000	0.17119	0.661000	0.29709	0.040000	0.13550	0.364000	0.20325	0.617000	0.30160	0.453000	0.30009	GAC	-	NULL		0.343	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	G	XM_060104	-		152059969	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.079	C	C	152059969	G	C	152059969	3	2	94	1	0	0	0	0	1	0	0	0	15708	1368	48	4	2529	4	TCHHL1	1	152059969	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	91757366	152059969	97190652	3	5281											
NR1I3	9970	genome.wustl.edu	37	chr1	161202645	161202645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacttgcagtaccatgAaagtgttgatgtctgcgaag	12	6	1	4			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:161202645A>G	ENST00000367982.4	-	5	655	c.500T>C	c.(499-501)tTc>tCc	p.F167S	NR1I3_ENST00000442691.2_Missense_Mutation_p.F167S|NR1I3_ENST00000505005.1_Missense_Mutation_p.F167S|NR1I3_ENST00000506209.1_Missense_Mutation_p.F138S|NR1I3_ENST00000508740.1_Missense_Mutation_p.F138S|NR1I3_ENST00000515452.1_Missense_Mutation_p.F167S|NR1I3_ENST00000367985.3_Missense_Mutation_p.F167S|NR1I3_ENST00000367981.3_Missense_Mutation_p.F138S|NR1I3_ENST00000428574.2_Missense_Mutation_p.F167S|NR1I3_ENST00000515621.1_Missense_Mutation_p.F92S|NR1I3_ENST00000504010.1_Missense_Mutation_p.F138S|NR1I3_ENST00000437437.2_Missense_Mutation_p.F138S|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.F167S|NR1I3_ENST00000512372.1_Missense_Mutation_p.F138S|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000412844.2_Missense_Mutation_p.F138S|NR1I3_ENST00000367983.4_Missense_Mutation_p.F167S|NR1I3_ENST00000367980.2_Missense_Mutation_p.F167S|NR1I3_ENST00000511676.1_Missense_Mutation_p.F138S|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.F167S|NR1I3_ENST00000502985.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	167					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGTACCATGAAAGTGTTGAT	0.517																																																	0								ENSG00000143257						146	146	146					1																	161202645		2203	4300	6503	NR1I3	SO:0001583	missense	0			-	HGNC	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.500T>C	1.37:g.161202645A>G	ENSP00000356961:p.Phe167Ser	Somatic	0	30	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.F167S	ENST00000367982.4	37	c.500	CCDS41430.1	1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.647184	0.67358	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.4	4.25	0.50352	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.165699	0.56097	D	0.000034	D	0.94857	0.8338	L	0.42245	1.32	0.38270	D	0.942121	P;P;D;B;D;B;P;P;D;P;D;P;D;P;P;D;D;D	0.76494	0.954;0.95;0.999;0.161;0.987;0.161;0.928;0.851;0.999;0.928;0.989;0.922;0.994;0.851;0.95;0.997;0.999;0.999	P;P;D;B;P;B;P;P;D;P;D;P;P;P;P;D;D;D	0.74674	0.727;0.857;0.977;0.129;0.776;0.184;0.895;0.818;0.977;0.86;0.956;0.701;0.902;0.802;0.708;0.977;0.984;0.977	D	0.93761	0.7067	9	0.39692	T	0.17	.	7.9888	0.30229	0.6395:0.0:0.0:0.3605	.	167;138;138;167;167;167;167;167;167;167;92;138;138;138;138;138;138;167	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	S	138;167;167;138;167;138;167;167;138;167;138;138;138;92;167;167;167;138;167	ENSP00000425417:F138S;ENSP00000356962:F167S;ENSP00000356959:F167S;ENSP00000407446:F138S;ENSP00000406493:F167S;ENSP00000399361:F138S;ENSP00000412672:F167S;ENSP00000424934:F167S;ENSP00000423666:F138S;ENSP00000356961:F167S;ENSP00000424345:F138S;ENSP00000427175:F138S;ENSP00000356960:F138S;ENSP00000421588:F92S;ENSP00000356963:F167S;ENSP00000356965:F167S;ENSP00000356958:F167S;ENSP00000423089:F138S;ENSP00000427034:F167S	ENSP00000356958:F167S	F	-	2	0	NR1I3	159469269	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.560000	0.45896	1.025000	0.39708	0.459000	0.35465	TTC	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.517	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR1I3	protein_coding	OTTHUMT00000083048.2	A		-		161202645	-1	no_errors	ENST00000367979	ensembl	human	known	74_37	missense	SNP	0.998	G	G	161202645	A	G	161202645	3	3	94	1	0	0	0	0	1	0	0	0	10623	246	9	5	688	5	NR1I3	1	161202645	Missense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09	9142676	161202645	88047976	4	5282											
POU2F1	5451	genome.wustl.edu	37	chr1	167381214	167381214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcacttcagacaccacctCcaacaacacagcaaccgtga	6	16	1	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:167381214C>T	ENST00000541643.3	+	15	1667	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.S502F|POU2F1_ENST00000367862.5_Missense_Mutation_p.S514F|POU2F1_ENST00000367866.2_Missense_Mutation_p.S525F|POU2F1_ENST00000429375.2_Missense_Mutation_p.S462F			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	502					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GACACCACCTCCAACAACACA	0.502																																																	0								ENSG00000143190						78	77	77					1																	167381214		2203	4300	6503	POU2F1	SO:0001583	missense	0			-	HGNC	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1505C>T	1.37:g.167381214C>T	ENSP00000441285:p.Ser502Phe	Somatic	0	25	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.S525F	ENST00000541643.3	37	c.1574		1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307100	0.60305	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86627	-2.15;-2.15;0.95;0.95;0.95;0.95;0.95	5.5	5.5	0.81552	.	0.000000	0.53938	D	0.000052	T	0.78566	0.4303	N	0.14661	0.345	0.29450	N	0.8585309999999999	P;P;P;B;P	0.42620	0.679;0.545;0.785;0.115;0.679	B;B;P;B;B	0.44990	0.276;0.371;0.466;0.143;0.276	D	0.83422	0.0033	9	0.72032	D	0.01	.	19.7622	0.96325	0.0:1.0:0.0:0.0	.	462;502;514;500;502	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	F	525;462;500;502;502;514;410	ENSP00000356840:S525F;ENSP00000401217:S462F;ENSP00000356839:S500F;ENSP00000414660:S502F;ENSP00000441285:S502F;ENSP00000356836:S514F;ENSP00000415993:S410F	ENSP00000356836:S514F	S	+	2	0	POU2F1	165647838	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.821000	0.48065	2.732000	0.93576	0.650000	0.86243	TCC	-	NULL		0.502	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	protein_coding		C	NM_002697	-		167381214	1	no_errors	ENST00000367866	ensembl	human	known	74_37	missense	SNP	1.000	T	T	167381214	C	T	167381214	3	4	94	1	0	0	0	0	1	0	0	0	12273	855	30	2	1555	2	POU2F1	1	167381214	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	6178569	167381214	81869407	5	5283											
NAV1	89796	genome.wustl.edu	37	chr1	201618518	201618518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggtggtgaccgtgctggGagacctggagcagctgctct	17	10	1	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:201618518G>A	ENST00000367296.4	+	1	1142	c.722G>A	c.(721-723)gGa>gAa	p.G241E	NAV1_ENST00000367302.1_Missense_Mutation_p.G254E|NAV1_ENST00000367297.4_Missense_Mutation_p.G241E|NAV1_ENST00000367300.3_Missense_Mutation_p.G241E|NAV1_ENST00000295624.6_Missense_Mutation_p.G241E	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	241					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				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						ACCGTGCTGGGAGACCTGGAG	0.677																																																	0								ENSG00000134369						11	13	13					1																	201618518		2192	4283	6475	NAV1	SO:0001583	missense	0			-	HGNC	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.722G>A	1.37:g.201618518G>A	ENSP00000356265:p.Gly241Glu	Somatic	0	44	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	74	8.64	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G241E	ENST00000367296.4	37	c.722	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575456	0.86645	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.72118	2.19	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	T	0.73607	-0.3929	10	0.87932	D	0	-18.4711	17.3345	0.87276	0.0:0.0:1.0:0.0	.	241	Q8NEY1-3	.	E	254;241;241;241;241	ENSP00000356271:G254E;ENSP00000356265:G241E;ENSP00000295624:G241E;ENSP00000356266:G241E;ENSP00000356269:G241E	ENSP00000295624:G241E	G	+	2	0	NAV1	199885141	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	8.829000	0.92055	2.180000	0.69256	0.313000	0.20887	GGA	-	NULL		0.677	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	G	NM_020443	-		201618518	1	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	SNP	1.000	A	A	201618518	G	A	201618518	3	1	94	1	0	0	0	0	1	0	0	0	10185	1174	41	2	724	2	NAV1	1	201618518	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	34237304	201618518	47632103	6	5284											
C1orf31	388753	genome.wustl.edu	37	chr1	234519488	234519488	+	Missense_Mutation	SNP	G	G	C													gataaaatattttgataaaaGaagagactacttaaaattca							TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:234519488G>C	ENST00000366613.1	+	3	338	c.302G>C	c.(301-303)aGa>aCa	p.R101T	COA6_ENST00000366615.4_Missense_Mutation_p.R131T|COA6_ENST00000366612.1_Missense_Mutation_p.R55T	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	101						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										TTTGATAAAAGAAGAGACTAC	0.294																																																	0								ENSG00000168275						32	36	34					1																	234519488		2193	4291	6484	COA6	SO:0001583	missense	0			-	HGNC		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"Mitochondrial respiratory chain complex assembly factors"	18025	protein-coding gene	gene with protein product		614772	"chromosome 1 open reading frame 31"	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.302G>C	1.37:g.234519488G>C	ENSP00000355572:p.Arg101Thr	Somatic	0	95	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	103	11.86	Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP							pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B	p.R131T	ENST00000366613.1	37	c.392	CCDS31059.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344621	0.82022	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.83755	-1.76;-1.76;-1.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.83223	2.63	0.51767	D	0.999939	D	0.89917	1.0	D	0.91635	0.999	D	0.92294	0.5844	10	0.66056	D	0.02	.	19.6405	0.95755	0.0:0.0:1.0:0.0	.	101	Q5JTJ3	CA031_HUMAN	T	131;132;101;55	ENSP00000355574:R131T;ENSP00000355572:R101T;ENSP00000355571:R55T	ENSP00000355571:R55T	R	+	2	0	C1orf31	232586111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.244000	0.72391	2.810000	0.96702	0.655000	0.94253	AGA	-	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B		0.294	COA6-002	NOVEL	basic|CCDS	protein_coding	COA6	protein_coding	OTTHUMT00000092613.1	G	NM_001012985	-		234519488	1	no_errors	ENST00000366615	ensembl	human	novel	74_37	missense	SNP	1.000	C	C	234519488	G	C	234519488	3	2	94	1	0	0	0	0	1	0	0	0	2039	942	33	4	312	4	C1orf31	1	234519488	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	32900970	234519488	14731133	7	5285	60	2									
C1orf31	388753	genome.wustl.edu	37	chr1	234519493	234519493	+	Missense_Mutation	SNP	G	G	A													aatattttgataaaagaagaGactacttaaaattcaaagaa							TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:234519493G>A	ENST00000366613.1	+	3	343	c.307G>A	c.(307-309)Gac>Aac	p.D103N	COA6_ENST00000366615.4_Missense_Mutation_p.D133N|COA6_ENST00000366612.1_Missense_Mutation_p.D57N	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	103						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										TAAAAGAAGAGACTACTTAAA	0.294																																																	0								ENSG00000168275						35	39	38					1																	234519493		2198	4294	6492	COA6	SO:0001583	missense	0			-	HGNC		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"Mitochondrial respiratory chain complex assembly factors"	18025	protein-coding gene	gene with protein product		614772	"chromosome 1 open reading frame 31"	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.307G>A	1.37:g.234519493G>A	ENSP00000355572:p.Asp103Asn	Somatic	0	101	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	102	13.45	Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP							pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B	p.D133N	ENST00000366613.1	37	c.397	CCDS31059.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607824	0.87258	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.82711	-1.64;-1.64;-1.64	5.78	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	L	0.55481	1.735	0.47374	D	0.9994	D	0.89917	1.0	D	0.91635	0.999	D	0.85874	0.1418	10	0.22109	T	0.4	.	16.1258	0.81395	0.0:0.0:0.8649:0.135	.	103	Q5JTJ3	CA031_HUMAN	N	133;134;103;57	ENSP00000355574:D133N;ENSP00000355572:D103N;ENSP00000355571:D57N	ENSP00000355571:D57N	D	+	1	0	C1orf31	232586116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.244000	0.72391	1.556000	0.49512	0.655000	0.94253	GAC	-	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B		0.294	COA6-002	NOVEL	basic|CCDS	protein_coding	COA6	protein_coding	OTTHUMT00000092613.1	G	NM_001012985	-		234519493	1	no_errors	ENST00000366615	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	234519493	G	A	234519493	3	1	94	1	0	0	0	0	1	0	0	0	2039	942	33	2	317	2	C1orf31	1	234519493	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	5	234519493	14731128	8	5286	60	2									
RYR2	6262	genome.wustl.edu	37	chr1	237527674	237527674	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagaaattcatgatgaaggTaagacatcttaatatatatg	7	4	2	4			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:237527674T>A	ENST00000366574.2	+	5	626		c.e5+2		RYR2_ENST00000360064.6_Intron|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGATGAAGGTAAGACATCTT	0.264																																																	0								ENSG00000198626						52	45	47					1																	237527674		1777	4042	5819	RYR2	SO:0001630	splice_region_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.309+2T>A	1.37:g.237527674T>A		Somatic	0	26	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q15411|Q546N8|Q5T3P2	Splice_Site	SNP							-	e5+2	ENST00000366574.2	37	c.309+2	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807228	0.70797	.	.	ENSG00000198626	ENST00000366574;ENST00000542537	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.017	0.58764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235594297	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.947000	0.63583	2.120000	0.65058	0.533000	0.62120	.	-	-		0.264	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	T	NM_001035	-	Intron	237527674	1	no_errors	ENST00000366574	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	237527674	T	A	237527674	5	1	94	1	0	0	0	0	0	0	1	0	13777	1652	57	5	329	5	RYR2	1	237527674	Splice_Site	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09	3008181	237527674	11722947	9	5287											
FMN2	56776	genome.wustl.edu	37	chr1	240492670	240492670	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcactaatccccaacTtttcagagcgagtcttttgc	6	12	3	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:240492670T>A	ENST00000319653.9	+	10	4569	c.4339T>A	c.(4339-4341)Ttt>Att	p.F1447I	FMN2_ENST00000545751.1_Missense_Mutation_p.F43I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1447	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATCCCCAACTTTTCAGAGCG	0.363																																																	0								ENSG00000155816						159	149	152					1																	240492670		2203	4300	6503	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4339T>A	1.37:g.240492670T>A	ENSP00000318884:p.Phe1447Ile	Somatic	0	26	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.F1447I	ENST00000319653.9	37	c.4339	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	35	5.453262	0.96223	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000545751;ENST00000537355	T;T;T	0.16073	2.37;2.37;2.37	5.65	5.65	0.86999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000009	T	0.40791	0.1131	M	0.63428	1.95	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;0.996;0.999;0.998	T	0.22138	-1.0225	10	0.72032	D	0.01	.	15.8761	0.79162	0.0:0.0:0.0:1.0	.	43;93;76;1447	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	I	1447;93;43;74	ENSP00000318884:F1447I;ENSP00000388922:F93I;ENSP00000437918:F43I	ENSP00000318884:F1447I	F	+	1	0	FMN2	238559293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.139000	0.66308	0.533000	0.62120	TTT	-	pfam_FH2_Formin,smart_FH2_Formin		0.363	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	T	XM_371352	-		240492670	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	1.000	A	A	240492670	T	A	240492670	3	1	94	1	0	0	0	0	1	0	0	0	5952	1609	56	5	4377	5	FMN2	1	240492670	Missense_Mutation	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09	2964996	240492670	8757951	10	5288											
OR2M7	391196	genome.wustl.edu	37	chr1	248487708	248487708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagtacatgggggtgtggaGctgggtatccaggtagatga	18	4	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr1:248487708G>C	ENST00000317965.2	-	1	191	c.163C>G	c.(163-165)Ctc>Gtc	p.L55V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	55						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(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGGGTGTGGAGCTGGGTATCC	0.537																																																	0								ENSG00000177186						301	285	291					1																	248487708		2203	4300	6503	OR2M7	SO:0001583	missense	0			-	HGNC	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.163C>G	1.37:g.248487708G>C	ENSP00000324557:p.Leu55Val	Somatic	0	85	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	80	9.09	B2RNL0|Q6IEX6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L55V	ENST00000317965.2	37	c.163	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441780	0.12164	.	.	ENSG00000177186	ENST00000317965	T	0.14022	2.54	1.54	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29501	U	0.011972	T	0.46756	0.1409	H	0.98487	4.245	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.40942	-0.9536	10	0.87932	D	0	.	6.7207	0.23328	0.3571:0.0:0.6429:0.0	.	55	Q8NG81	OR2M7_HUMAN	V	55	ENSP00000324557:L55V	ENSP00000324557:L55V	L	-	1	0	OR2M7	246554331	1.000000	0.71417	0.394000	0.26270	0.039000	0.13416	3.615000	0.54167	-0.703000	0.05049	-1.109000	0.02080	CTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	protein_coding	OTTHUMT00000097357.1	G	NM_001004691	-		248487708	-1	no_errors	ENST00000317965	ensembl	human	known	74_37	missense	SNP	0.336	C	C	248487708	G	C	248487708	3	2	94	1	0	0	0	0	1	0	0	0	11016	971	34	4	778	4	OR2M7	1	248487708	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	7995038	248487708	762913	11	5289											
PSME4	23198	genome.wustl.edu	37	chr2	54153144	54153144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattcagctgtggctgaaCaaagttctcgttccacctat	7	11	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr2:54153144C>T	ENST00000404125.1	-	13	1665	c.1610G>A	c.(1609-1611)tGt>tAt	p.C537Y	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	537					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)			TGTGGCTGAACAAAGTTCTCG	0.373																																																	0								ENSG00000068878						126	125	125					2																	54153144		2203	4300	6503	PSME4	SO:0001583	missense	0			-	HGNC	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.1610G>A	2.37:g.54153144C>T	ENSP00000384211:p.Cys537Tyr	Somatic	0	30	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP							pfam_DUF3437,superfamily_ARM-type_fold	p.C537Y	ENST00000404125.1	37	c.1610	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905087	0.72868	.	.	ENSG00000068878	ENST00000404125	T	0.04917	3.53	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	P	0.55965	0.788	T	0.03354	-1.1045	10	0.21014	T	0.42	.	19.1666	0.93560	0.0:1.0:0.0:0.0	.	537	Q14997	PSME4_HUMAN	Y	537	ENSP00000384211:C537Y	ENSP00000374643:C537Y	C	-	2	0	PSME4	54006648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.676000	0.84012	2.608000	0.88229	0.557000	0.71058	TGT	-	superfamily_ARM-type_fold		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	C	XM_040158	-		54153144	-1	no_errors	ENST00000404125	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54153144	C	T	54153144	3	4	94	1	0	0	0	0	1	0	0	0	12714	478	17	2	4057	2	PSME4	2	54153144	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		54153144	189046229	12	5290											
KLHL30	377007	genome.wustl.edu	37	chr2	239054412	239054412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcccgtggcgcccatGctgaagccccgcaccaacca	11	17	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr2:239054412G>A	ENST00000409223.1	+	5	1196	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	KLHL30_ENST00000305959.4_Missense_Mutation_p.M345I			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	363										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGCGCCCATGCTGAAGCCCC	0.667																																																	0								ENSG00000168427						24	32	30					2																	239054412		2037	4178	6215	KLHL30	SO:0001583	missense	0			-	HGNC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1089G>A	2.37:g.239054412G>A	ENSP00000386389:p.Met363Ile	Somatic	0	65	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	Q6ZUS1	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M363I	ENST00000409223.1	37	c.1089	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935744	0.92458	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.71103	-0.54;-0.54	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	M	0.91140	3.18	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.90551	0.4509	10	0.87932	D	0	.	16.2395	0.82399	0.0:0.0:1.0:0.0	.	363	Q0D2K2	KLH30_HUMAN	I	363;345	ENSP00000386389:M363I;ENSP00000302386:M345I	ENSP00000302386:M345I	M	+	3	0	KLHL30	238719151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.781000	0.99029	2.113000	0.64589	0.542000	0.68232	ATG	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.667	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	protein_coding	OTTHUMT00000328518.1	G	NM_198582	-		239054412	1	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	SNP	1.000	A	A	239054412	G	A	239054412	3	1	94	1	0	0	0	0	1	0	0	0	8386	1319	46	2	1103	2	KLHL30	2	239054412	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	184901268	239054412	4144961	13	5291											
CHCHD6	84303	genome.wustl.edu	37	chr3	126633574	126633574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattccatgaggcagcctcaAagatggagagcacaataaag	10	8	1	3			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr3:126633574A>G	ENST00000290913.3	+	6	640	c.547A>G	c.(547-549)Aag>Gag	p.K183E	CHCHD6_ENST00000508789.1_Missense_Mutation_p.K184E|CHCHD6_ENST00000515867.1_3'UTR	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	183					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						GGCAGCCTCAAAGATGGAGAG	0.383																																																	0								ENSG00000159685						98	106	103					3																	126633574		2203	4300	6503	CHCHD6	SO:0001583	missense	0			-	HGNC	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28184	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 23", "coiled-coil-helix cristae morphology 1"	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.547A>G	3.37:g.126633574A>G	ENSP00000290913:p.Lys183Glu	Somatic	0	50	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	78	13.33	D6R9U0|D6RIB4|H8Y0Y7	Missense_Mutation	SNP							pfam_DUF737	p.K183E	ENST00000290913.3	37	c.547	CCDS3041.1	3	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359204	0.24598	.	.	ENSG00000159685	ENST00000290913;ENST00000508789	T;T	0.40756	1.02;1.02	4.43	3.21	0.36854	.	0.272828	0.34362	N	0.004039	T	0.31734	0.0806	N	0.21194	0.64	0.22330	N	0.999194	D;D	0.53745	0.961;0.962	P;P	0.51701	0.626;0.677	T	0.13495	-1.0507	10	0.06757	T	0.87	-16.0023	9.4997	0.39011	0.7635:0.2365:0.0:0.0	.	184;183	D6R9U0;Q9BRQ6	.;CHCH6_HUMAN	E	183;184	ENSP00000290913:K183E;ENSP00000422912:K184E	ENSP00000290913:K183E	K	+	1	0	CHCHD6	128116264	0.489000	0.26004	0.951000	0.38953	0.214000	0.24535	1.991000	0.40727	1.777000	0.52277	0.460000	0.39030	AAG	-	pfam_DUF737		0.383	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD6	protein_coding	OTTHUMT00000356432.1	A	NM_032343	-		126633574	1	no_errors	ENST00000290913	ensembl	human	known	74_37	missense	SNP	0.498	G	G	126633574	A	G	126633574	3	3	94	1	0	0	0	0	1	0	0	0	3322	15	1	5	569	5	CHCHD6	3	126633574	Missense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09		126633574	71388856	14	5292											
FGG	2266	genome.wustl.edu	37	chr4	155526181	155526181	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaataatgccattatcAtaaccattaggagtagatgc	7	9	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr4:155526181A>C	ENST00000336098.3	-	9	1205	c.1167T>G	c.(1165-1167)taT>taG	p.Y389*	FGG_ENST00000405164.1_Nonsense_Mutation_p.Y397*|FGG_ENST00000407946.1_Nonsense_Mutation_p.Y397*|FGG_ENST00000404648.3_Nonsense_Mutation_p.Y389*	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	389	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCCATTATCATAACCATTAG	0.383																																																	0								ENSG00000171557						128	120	123					4																	155526181		2203	4300	6503	FGG	SO:0001587	stop_gained	0			-	HGNC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1167T>G	4.37:g.155526181A>C	ENSP00000336829:p.Tyr389*	Somatic	0	79	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	56	12.50	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Nonsense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Y389*	ENST00000336098.3	37	c.1167	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	A	33	5.203035	0.95033	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	6.17	3.68	0.42216	.	0.214072	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0821	0.48066	0.8738:0.0:0.1262:0.0	.	.	.	.	X	389;397;389;397	.	ENSP00000336829:Y389X	Y	-	3	2	FGG	155745631	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.930000	0.40124	0.527000	0.28560	-0.274000	0.10170	TAT	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.383	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	protein_coding	OTTHUMT00000317581.1	A	NM_021870	-		155526181	-1	no_errors	ENST00000336098	ensembl	human	known	74_37	nonsense	SNP	1.000	C	C	155526181	A	C	155526181	4	2	94	1	0	0	0	0	0	1	0	0	5872	224	8	5	217	5	FGG	4	155526181	Nonsense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09		155526181	35628095	15	5293											
TCOF1	6949	genome.wustl.edu	37	chr5	149755997	149755997	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcccaggcaaagtctgtGgggaaaggcctccaggtgaa	13	10	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr5:149755997G>T	ENST00000504761.2	+	14	2154	c.2154G>T	c.(2152-2154)gtG>gtT	p.V718V	TCOF1_ENST00000439160.2_Silent_p.V718V|TCOF1_ENST00000445265.2_Silent_p.V641V|TCOF1_ENST00000451292.1_Silent_p.V718V|TCOF1_ENST00000394269.3_Silent_p.V718V|TCOF1_ENST00000513346.1_Silent_p.V718V|TCOF1_ENST00000377797.3_Silent_p.V718V|TCOF1_ENST00000323668.7_Silent_p.V641V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	718					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGTCTGTGGGGAAAGGCC	0.617																																																	0								ENSG00000070814						49	53	51					5																	149755997		2203	4300	6503	TCOF1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2154G>T	5.37:g.149755997G>T		Somatic	0	35	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP							pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.V718	ENST00000504761.2	37	c.2154	CCDS54936.1	5																																																																																			-	pfam_TCS_treacle		0.617	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	G	NM_001008656	-		149755997	1	no_errors	ENST00000451292	ensembl	human	known	74_37	silent	SNP	0.212	T	T	149755997	G	T	149755997	2	4	94	1	0	0	0	0	0	0	0	1	15715	1335	47	3		3	TCOF1	5	149755997	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09		149755997	31159263	16	5294											
ODZ2	57451	genome.wustl.edu	37	chr5	167654985	167654985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggtatcagcttccacagCgagccccatgtcctagcggg	12	13	1	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr5:167654985C>T	ENST00000518659.1	+	25	5409	c.5370C>T	c.(5368-5370)agC>agT	p.S1790S	TENM2_ENST00000519204.1_Silent_p.S1669S|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000403607.2_Silent_p.S1614S|TENM2_ENST00000545108.1_Silent_p.S1789S|TENM2_ENST00000520394.1_Silent_p.S1551S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1790					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)										GCTTCCACAGCGAGCCCCATG	0.512																																																	0								ENSG00000145934						61	63	62					5																	167654985		2020	4183	6203	TENM2	SO:0001819	synonymous_variant	0			-	HGNC	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.5370C>T	5.37:g.167654985C>T		Somatic	0	26	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q9ULU2	Silent	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1790	ENST00000518659.1	37	c.5370		5																																																																																			-	superfamily_ConA-like_lec_gl_sf		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	C	NM_001122679	-		167654985	1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	SNP	0.218	T	T	167654985	C	T	167654985	2	4	94	1	0	0	0	0	0	0	0	1	10837	767	27	1		1	ODZ2	5	167654985	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	17898988	167654985	13260275	17	5295											
GCNT2	2651	genome.wustl.edu	37	chr6	10586804	10586804	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaacacctgtggacaagaCttccccctgaaaaccaaccg	6	15	1	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:10586804C>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.D194E|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTGGACAAGACTTCCCCCTGA	0.502																																																	0								ENSG00000111846						94	93	93					6																	10586804		2203	4300	6503	GCNT2	SO:0001627	intron_variant	0			-	HGNC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-34780C>A	6.37:g.10586804C>A		Somatic	0	26	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00		Missense_Mutation	SNP							pfam_Glyco_trans_14	p.D194E	ENST00000379597.3	37	c.582	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819185	0.71028	.	.	ENSG00000111846	ENST00000265012	T	0.23147	1.92	5.47	-6.48	0.01896	.	.	.	.	.	T	0.33294	0.0858	M	0.79805	2.47	0.39429	D	0.967046	D	0.55800	0.973	P	0.61477	0.889	T	0.59053	-0.7526	9	0.52906	T	0.07	.	16.9538	0.86252	0.0:0.6089:0.0:0.3911	.	194	Q8NFS9	GNT2C_HUMAN	E	194	ENSP00000265012:D194E	ENSP00000265012:D194E	D	+	3	2	GCNT2	10694790	0.474000	0.25886	0.528000	0.27938	0.983000	0.72400	-0.307000	0.08167	-1.697000	0.01420	-0.768000	0.03414	GAC	-	pfam_Glyco_trans_14		0.502	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	protein_coding	OTTHUMT00000327912.3	C	NM_145649	-		10586804	1	no_errors	ENST00000265012	ensembl	human	known	74_37	missense	SNP	0.929	A	A	10586804	C	A	10586804	1	1	94	0	1	0	0	0	0	0	0	0	6303	564	20	3		3	GCNT2	6	10586804	Intron	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		10586804	160528263	18	5296											
BAT2	7916	genome.wustl.edu	37	chr6	31602954	31602954	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccctggccccattggcacaGaacgatcacagcgtacagac	9	16	1	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:31602954G>A	ENST00000376033.2	+	22	5440	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1736K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1736	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CATTGGCACAGAACGATCACA	0.602																																																	0								ENSG00000204469						75	74	74					6																	31602954		2203	4300	6503	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5206G>A	6.37:g.31602954G>A	ENSP00000365201:p.Glu1736Lys	Somatic	0	22	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	15.79	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.E1736K	ENST00000376033.2	37	c.5206	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078887	0.55753	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.05717	3.4;3.4	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000012	T	0.15046	0.0363	L	0.57536	1.79	0.46499	D	0.999078	D	0.63880	0.993	D	0.70935	0.971	T	0.00073	-1.2127	10	0.87932	D	0	-13.9841	16.4508	0.83990	0.0:0.0:1.0:0.0	.	1736	P48634	PRC2A_HUMAN	K	1730;1719;1736;1736;961	ENSP00000365175:E1736K;ENSP00000365201:E1736K	ENSP00000365175:E1736K	E	+	1	0	PRRC2A	31710933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.880000	0.63107	2.873000	0.98535	0.561000	0.74099	GAA	-	NULL		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	G	NM_080686	-		31602954	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31602954	G	A	31602954	3	1	94	1	0	0	0	0	1	0	0	0	1319	943	33	2	5288	2	BAT2	6	31602954	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	21016150	31602954	139512113	19	5297			1	57		5	5	2353	G		3.504042e-11
BAT2	7916	genome.wustl.edu	37	chr6	31603240	31603240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctaacagcatcagtcactGaggtaagtgggagtaagagt	13	6	2	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:31603240G>A	ENST00000376033.2	+	23	5605	c.5371G>A	c.(5371-5373)Gag>Aag	p.E1791K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1791K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1791	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATCAGTCACTGAGGTAAGTGG	0.522																																																	0								ENSG00000204469						113	111	112					6																	31603240		1511	2709	4220	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5371G>A	6.37:g.31603240G>A	ENSP00000365201:p.Glu1791Lys	Somatic	0	33	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.E1791K	ENST00000376033.2	37	c.5371	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628901	0.46944	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01854	4.6;4.6	4.94	4.94	0.65067	.	0.207947	0.34268	N	0.004101	T	0.00845	0.0028	N	0.14661	0.345	0.37687	D	0.92369	P	0.37466	0.596	B	0.29077	0.098	T	0.64313	-0.6437	10	0.87932	D	0	-6.4453	15.578	0.76408	0.0:0.0:1.0:0.0	.	1791	P48634	PRC2A_HUMAN	K	1785;1774;1791;1791;1016	ENSP00000365175:E1791K;ENSP00000365201:E1791K	ENSP00000365175:E1791K	E	+	1	0	PRRC2A	31711219	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	4.776000	0.62354	2.758000	0.94735	0.561000	0.74099	GAG	-	NULL		0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	G	NM_080686	-		31603240	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	0.995	A	A	31603240	G	A	31603240	3	1	94	1	0	0	0	0	1	0	0	0	1319	1291	45	2	5457	2	BAT2	6	31603240	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	286	31603240	139511827	20	5298			1	57		5	5	2353	G		3.504042e-11
BAT2	7916	genome.wustl.edu	37	chr6	31604868	31604868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattatcaaaaactgagcaGcaaccttgggggacctggat	12	8	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:31604868G>T	ENST00000376033.2	+	29	6431	c.6197G>T	c.(6196-6198)aGc>aTc	p.S2066I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S2066I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2066	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAACTGAGCAGCAACCTTGGG	0.488																																																	0								ENSG00000204469						82	87	85					6																	31604868		1509	2709	4218	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6197G>T	6.37:g.31604868G>T	ENSP00000365201:p.Ser2066Ile	Somatic	0	52	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.53	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.S2066I	ENST00000376033.2	37	c.6197	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129812	0.21041	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01838	4.61;4.61	4.64	3.78	0.43462	.	0.082224	0.53938	D	0.000054	T	0.00875	0.0029	N	0.14661	0.345	0.37084	D	0.899121	B	0.23249	0.082	B	0.27887	0.084	T	0.52764	-0.8532	10	0.87932	D	0	-13.7224	13.0524	0.58962	0.0:0.1624:0.8376:0.0	.	2066	P48634	PRC2A_HUMAN	I	2058;2047;2066;2066;1291	ENSP00000365175:S2066I;ENSP00000365201:S2066I	ENSP00000365175:S2066I	S	+	2	0	PRRC2A	31712847	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.103000	0.31062	1.570000	0.49709	-0.127000	0.14921	AGC	-	NULL		0.488	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	G	NM_080686	-		31604868	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31604868	G	T	31604868	3	4	94	1	0	0	0	0	1	0	0	0	1319	971	34	3	6307	3	BAT2	6	31604868	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	1628	31604868	139510199	21	5299			1	57		5	5	2353	G		3.504042e-11
BAT2	7916	genome.wustl.edu	37	chr6	31605238	31605238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaggcctccccaccagatGccctgcgctggatacctaag	9	17	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:31605238G>A	ENST00000376033.2	+	31	6583	c.6349G>A	c.(6349-6351)Gcc>Acc	p.A2117T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A2117T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2117						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCACCAGATGCCCTGCGCTG	0.627																																																	0								ENSG00000204469						150	174	166					6																	31605238		1509	2708	4217	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6349G>A	6.37:g.31605238G>A	ENSP00000365201:p.Ala2117Thr	Somatic	0	61	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	71	12.35	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.A2117T	ENST00000376033.2	37	c.6349	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536147	0.27475	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02395	4.31;4.31	5.93	3.25	0.37280	.	0.115763	0.39341	N	0.001400	T	0.00998	0.0033	L	0.29908	0.895	0.38957	D	0.958467	B	0.06786	0.001	B	0.06405	0.002	T	0.48031	-0.9070	10	0.87932	D	0	-3.1837	8.219	0.31530	0.2444:0.0:0.7556:0.0	.	2117	P48634	PRC2A_HUMAN	T	2109;2098;2117;2117;1342	ENSP00000365175:A2117T;ENSP00000365201:A2117T	ENSP00000365175:A2117T	A	+	1	0	PRRC2A	31713217	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.127000	0.42035	0.438000	0.26450	-0.136000	0.14681	GCC	-	NULL		0.627	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	G	NM_080686	-		31605238	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31605238	G	A	31605238	3	1	94	1	0	0	0	0	1	0	0	0	1319	1319	46	2	6467	2	BAT2	6	31605238	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	370	31605238	139509829	22	5300			1	57		5	5	2353	G		3.504042e-11
BAT2	7916	genome.wustl.edu	37	chr6	31605306	31605306	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagaagggccctcccgacgGgcagaggagcctgggtcccg	17	14	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:31605306G>T	ENST00000376033.2	+	31	6651	c.6417G>T	c.(6415-6417)cgG>cgT	p.R2139R	PRRC2A_ENST00000376007.4_Silent_p.R2139R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2139						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTCCCGACGGGCAGAGGAGC	0.672																																																	0								ENSG00000204469						47	59	55					6																	31605306		1510	2708	4218	PRRC2A	SO:0001819	synonymous_variant	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6417G>T	6.37:g.31605306G>T		Somatic	0	97	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	139	10.32	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP							pfam_BAT2_N	p.R2139	ENST00000376033.2	37	c.6417	CCDS4708.1	6																																																																																			-	NULL		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	G	NM_080686	-		31605306	1	no_errors	ENST00000376007	ensembl	human	known	74_37	silent	SNP	0.964	T	T	31605306	G	T	31605306	2	4	94	1	0	0	0	0	0	0	0	1	1319	1219	43	3		3	BAT2	6	31605306	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	68	31605306	139509761	23	5301			1	57		5	5	2353	G		3.504042e-11
SPATS1	221409	genome.wustl.edu	37	chr6	44336210	44336210	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccacaaagcaggatcAatgctcccaccagtgaattt	8	12	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr6:44336210A>C	ENST00000288390.2	+	5	1016	c.669A>C	c.(667-669)tcA>tcC	p.S223S	SPATS1_ENST00000323108.8_Silent_p.S223S|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	223										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGCAGGATCAATGCTCCCAC	0.373																																																	0								ENSG00000249481						110	107	108					6																	44336210		2203	4300	6503	SPATS1	SO:0001819	synonymous_variant	0			-	HGNC	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.669A>C	6.37:g.44336210A>C		Somatic	0	51	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	67	9.46	Q496A2|Q496A5|Q96LJ0	Silent	SNP							NULL	p.S223	ENST00000288390.2	37	c.669	CCDS4911.1	6																																																																																			-	NULL		0.373	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATS1	protein_coding	OTTHUMT00000040738.2	A	NM_145026	-		44336210	1	no_errors	ENST00000288390	ensembl	human	known	74_37	silent	SNP	0.988	C	C	44336210	A	C	44336210	2	2	94	1	0	0	0	0	0	0	0	1	15025	117	5	5		5	SPATS1	6	44336210	Silent	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09	12730904	44336210	126778857	24	5302											
STK31	56164	genome.wustl.edu	37	chr7	23775341	23775341	+	Frame_Shift_Del	DEL	A	A	-													cagaactgacatctgtgaggAaaaaaaattggatcctggtc							TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:23775341delA	ENST00000355870.3	+	7	787	c.668delA	c.(667-669)gaafs	p.E223fs	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000354639.3_Frame_Shift_Del_p.E200fs	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000196335		,,	10,4254		5,0,2127	102	100	101		,,	4.3	1	7		102	11,8243		5,1,4121	no	frameshift,frameshift,frameshift	STK31	NM_032944.2,NM_031414.3,NM_001122833.1	,,	10,1,6248	A1A1,A1R,RR		0.1333,0.2345,0.1678	,,	,,	23775341	21,12497	2203	4300	6503	STK31	SO:0001589	frameshift_variant	0				HGNC	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.668delA	7.37:g.23775341delA	ENSP00000348132:p.Glu223fs	Somatic	0	20	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Frame_Shift_Del	DEL							pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom	p.K225fs	ENST00000355870.3	37	c.668	CCDS5386.1	7																																																																																			-	NULL		0.473	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	protein_coding	OTTHUMT00000214036.2	A	NM_031414			23775341	1	no_errors	ENST00000355870	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	23775341	A	-	23775341	7	5	94	1	0	1	0	1	0	0	0	0	15303	246	9	0	694	0	STK31	7	23775341	Frame_Shift_Del	DEL	A	TCGA-DX-A8BG-01A-12D-A417-09		23775341	135363322	25	5303											
MAGI2	9863	genome.wustl.edu	37	chr7	77764399	77764399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgatgagcttcacgatGtcagcgtgaggcatgttgat	12	8	2	4	rs151185251		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:77764399G>A	ENST00000354212.4	-	17	3223	c.2970C>T	c.(2968-2970)gaC>gaT	p.D990D	MAGI2_ENST00000419488.1_Silent_p.D976D|MAGI2_ENST00000522391.1_Silent_p.D990D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	990	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTTCACGATGTCAGCGTGAG	0.532																																																	0								ENSG00000187391	G		0,4406		0,0,2203	270	200	223		2970	5.2	1	7	dbSNP_134	223	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAGI2	NM_012301.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		990/1456	77764399	1,13005	2203	4300	6503	MAGI2	SO:0001819	synonymous_variant	0			-	HGNC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2970C>T	7.37:g.77764399G>A		Somatic	0	19	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.D990	ENST00000354212.4	37	c.2970	CCDS5594.1	7																																																																																			-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.532	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	protein_coding	OTTHUMT00000253197.3	G	NM_012301	rs151185251		77764399	-1	no_errors	ENST00000354212	ensembl	human	known	74_37	silent	SNP	1.000	A	A	77764399	G	A	77764399	2	1	94	1	0	0	0	0	0	0	0	1	9193	1368	48	2		2	MAGI2	7	77764399	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	53989058	77764399	81374264	26	5304											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121616308	121616308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggaagttaagagctttaTccattttgtttgaggtaata	10	3	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:121616308T>C	ENST00000393386.2	+	5	949	c.538T>C	c.(538-540)Tcc>Ccc	p.S180P	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S180P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	180	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAGAGCTTTATCCATTTTGTT	0.308																																																	0								ENSG00000106278						101	99	100					7																	121616308		2203	4297	6500	PTPRZ1	SO:0001583	missense	0			-	HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.538T>C	7.37:g.121616308T>C	ENSP00000377047:p.Ser180Pro	Somatic	0	78	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S180P	ENST00000393386.2	37	c.538	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849294	0.71603	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.56275	0.47;0.47	5.43	4.28	0.50868	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000003	T	0.68467	0.3004	M	0.69185	2.1	0.36695	D	0.87979	B;D	0.89917	0.043;1.0	B;D	0.91635	0.026;0.999	T	0.75193	-0.3404	10	0.87932	D	0	.	11.1789	0.48616	0.0:0.0725:0.0:0.9275	.	180;180	C9JFM0;P23471	.;PTPRZ_HUMAN	P	180	ENSP00000377047:S180P;ENSP00000410000:S180P	ENSP00000377047:S180P	S	+	1	0	PTPRZ1	121403544	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.504000	0.66968	0.907000	0.36646	0.443000	0.29094	TCC	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.308	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	T	NM_002851	-		121616308	1	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	SNP	1.000	C	C	121616308	T	C	121616308	3	2	94	1	0	0	0	0	1	0	0	0	12822	1435	50	5	556	5	PTPRZ1	7	121616308	Missense_Mutation	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09	43851909	121616308	37522355	27	5305											
AASS	10157	genome.wustl.edu	37	chr7	121733109	121733109	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gattaaaacttacctcttttCcaattcttttagtgctggtg	6	8	2	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:121733109C>A	ENST00000393376.1	-	15	1854	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	AASS_ENST00000417368.2_Nonsense_Mutation_p.E587*|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	587	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TACCTCTTTTCCAATTCTTTT	0.388																																																	0								ENSG00000008311						167	172	170					7																	121733109		2203	4300	6503	AASS	SO:0001587	stop_gained	0			-	HGNC	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1759G>T	7.37:g.121733109C>A	ENSP00000377040:p.Glu587*	Somatic	0	63	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	69	8.00	O95462	Nonsense_Mutation	SNP							pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E587*	ENST00000393376.1	37	c.1759	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.919362	0.97936	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	6.07	6.07	0.98685	.	0.046377	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-30.2508	14.7483	0.69505	0.0:0.7513:0.2487:0.0	.	.	.	.	X	587	.	ENSP00000351834:E587X	E	-	1	0	AASS	121520345	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.312000	0.59154	2.885000	0.99019	0.655000	0.94253	GAA	-	pfam_Saccharopine_DH/HSpermid_syn		0.388	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	protein_coding	OTTHUMT00000347300.1	C	NM_005763	-		121733109	-1	no_errors	ENST00000393376	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	121733109	C	A	121733109	4	1	94	1	0	0	0	0	0	1	0	0	24	864	30	3	1057	3	AASS	7	121733109	Nonsense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	116801	121733109	37405554	28	5306											
UBN2	254048	genome.wustl.edu	37	chr7	138916591	138916591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgggctgagcagccgccgCggccgccgagggagacggtg	19	15	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:138916591C>A	ENST00000473989.3	+	1	361	c.361C>A	c.(361-363)Cgg>Agg	p.R121R	UBN2_ENST00000288561.8_Silent_p.R38R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	121	Pro-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						GCAGCCGCCGCGGCCGCCGAG	0.761																																																	0								ENSG00000157741						9	11	10					7																	138916591		1903	4107	6010	UBN2	SO:0001819	synonymous_variant	0			-	HGNC	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.361C>A	7.37:g.138916591C>A		Somatic	0	23	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP							NULL	p.R121	ENST00000473989.3	37	c.361	CCDS43655.2	7																																																																																			-	NULL		0.761	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	C	NM_173569	-		138916591	1	no_errors	ENST00000473989	ensembl	human	known	74_37	silent	SNP	0.765	A	A	138916591	C	A	138916591	2	1	94	1	0	0	0	0	0	0	0	1	16900	759	27	3		3	UBN2	7	138916591	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	17183482	138916591	20222072	29	5307											
PDIA4	9601	genome.wustl.edu	37	chr7	148705263	148705263	+	Missense_Mutation	SNP	C	C	A													ccgcttacctggacgtccatCatgtggctccggggctcata							TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:148705263C>A	ENST00000286091.4	-	7	1351	c.1119G>T	c.(1117-1119)atG>atT	p.M373I		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	373					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGACGTCCATCATGTGGCTCC	0.557																																																	0								ENSG00000155660						73	75	74					7																	148705263		2203	4300	6503	PDIA4	SO:0001583	missense	0			-	HGNC	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1119G>T	7.37:g.148705263C>A	ENSP00000286091:p.Met373Ile	Somatic	0	62	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	100	15.25	A8K4K6|Q549T6	Missense_Mutation	SNP							pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.M373I	ENST00000286091.4	37	c.1119	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	C	9.642	1.139199	0.21205	.	.	ENSG00000155660	ENST00000286091	T	0.75821	-0.97	5.32	3.21	0.36854	Thioredoxin-like fold (2);	0.627745	0.17589	N	0.168846	T	0.42471	0.1204	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	10	0.25106	T	0.35	.	7.8596	0.29501	0.3904:0.4946:0.1149:0.0	.	373	P13667	PDIA4_HUMAN	I	373	ENSP00000286091:M373I	ENSP00000286091:M373I	M	-	3	0	PDIA4	148336196	0.002000	0.14202	0.170000	0.22879	0.820000	0.46376	0.062000	0.14389	1.361000	0.45981	0.650000	0.86243	ATG	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.557	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	protein_coding	OTTHUMT00000317077.1	C	NM_004911	-		148705263	-1	no_errors	ENST00000286091	ensembl	human	known	74_37	missense	SNP	0.047	A	A	148705263	C	A	148705263	3	1	94	1	0	0	0	0	1	0	0	0	11672	826	29	3	834	3	PDIA4	7	148705263	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	9788672	148705263	10433400	30	5308	61	2									
PDIA4	9601	genome.wustl.edu	37	chr7	148705272	148705272	+	Silent	SNP	C	C	A													tggacgtccatcatgtggctCcggggctcatacttggactg							TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:148705272C>A	ENST00000286091.4	-	7	1342	c.1110G>T	c.(1108-1110)cgG>cgT	p.R370R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	370					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCATGTGGCTCCGGGGCTCAT	0.552																																																	0								ENSG00000155660						77	79	78					7																	148705272		2203	4300	6503	PDIA4	SO:0001819	synonymous_variant	0			-	HGNC	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1110G>T	7.37:g.148705272C>A		Somatic	0	64	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	97	14.91	A8K4K6|Q549T6	Silent	SNP							pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.R370	ENST00000286091.4	37	c.1110	CCDS5893.1	7																																																																																			-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.552	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	protein_coding	OTTHUMT00000317077.1	C	NM_004911	-		148705272	-1	no_errors	ENST00000286091	ensembl	human	known	74_37	silent	SNP	0.345	A	A	148705272	C	A	148705272	2	1	94	1	0	0	0	0	0	0	0	1	11672	842	30	3		3	PDIA4	7	148705272	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	9	148705272	10433391	31	5309	61	2									
SSPO	23145	genome.wustl.edu	37	chr7	149506541	149506541	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccagggccctgcctcTtgtgcagagctcagcgcccc	12	17	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr7:149506541T>A	ENST00000378016.2	+	0	9315							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTGCCTCTTGTGCAGAGC	0.647																																																	0								ENSG00000197558						15	20	18					7																	149506541		1966	4099	6065	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149506541T>A		Somatic	0	40	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	58	13.43	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.647	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		T		-		149506541	1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	SNP	1.000	A	A	149506541	T	A	149506541	1	1	94	0	1	0	0	0	0	0	0	0	15196	1596	56	5		5	SSPO	7	149506541	RNA	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09	801269	149506541	9632122	32	5310											
CHMP7	91782	genome.wustl.edu	37	chr8	23115547	23115547	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccctttgtttccaggTgtaaagaagaagcccgccgg	11	11	1	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr8:23115547T>A	ENST00000397677.1	+	6	1441	c.793T>A	c.(793-795)Tgt>Agt	p.C265S	CHMP7_ENST00000313219.7_Splice_Site_p.C265S|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	265					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTTTCCAGGTGTAAAGAAGA	0.557																																																	0								ENSG00000147457						77	88	84					8																	23115547		2203	4300	6503	CHMP7	SO:0001630	splice_region_variant	0			-	HGNC	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.792-1T>A	8.37:g.23115547T>A		Somatic	0	18	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP							pfam_Snf7	p.C265S	ENST00000397677.1	37	c.793	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393224	0.83011	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.70986	-0.53;-0.53	5.75	4.58	0.56647	.	0.209841	0.64402	D	0.000010	T	0.73140	0.3549	L	0.43152	1.355	0.40231	D	0.977847	D;D	0.61697	0.99;0.979	P;P	0.62491	0.903;0.76	T	0.69015	-0.5257	10	0.21014	T	0.42	0.1363	9.9789	0.41802	0.151:0.0:0.0:0.849	.	155;265	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	S	265	ENSP00000380794:C265S;ENSP00000324491:C265S	ENSP00000324491:C265S	C	+	1	0	CHMP7	23171492	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.384000	0.52478	0.982000	0.38575	0.533000	0.62120	TGT	-	pfam_Snf7		0.557	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	protein_coding	OTTHUMT00000254717.1	T	NM_152272	-	Missense_Mutation	23115547	1	no_errors	ENST00000313219	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23115547	T	A	23115547	5	1	94	1	0	0	0	0	0	0	1	0	3363	1710	59	5	811	5	CHMP7	8	23115547	Splice_Site	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09		23115547	123248475	33	5311											
SNTG1	54212	genome.wustl.edu	37	chr8	51621506	51621506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcacaattgatttcagcAcaggatttatctgctttgat	7	8	3	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr8:51621506A>G	ENST00000522124.1	+	17	1913	c.1252A>G	c.(1252-1254)Aca>Gca	p.T418A	SNTG1_ENST00000276467.5_Missense_Mutation_p.T418A|SNTG1_ENST00000518864.1_Missense_Mutation_p.T418A|SNTG1_ENST00000517473.1_Missense_Mutation_p.T418A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	418					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGATTTCAGCACAGGATTTAT	0.368																																																	0								ENSG00000147481						186	159	168					8																	51621506		2203	4300	6503	SNTG1	SO:0001583	missense	0			-	HGNC	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1252A>G	8.37:g.51621506A>G	ENSP00000429842:p.Thr418Ala	Somatic	0	31	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q2M3Q0|Q9NY98	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.T418A	ENST00000522124.1	37	c.1252	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	A	7.798	0.712972	0.15306	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.69	1.97	0.26223	.	0.161752	0.64402	D	0.000004	T	0.41143	0.1146	N	0.08118	0	0.28277	N	0.924169	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23154	-1.0196	10	0.08837	T	0.75	-9.3309	5.6682	0.17707	0.7351:0.0:0.1391:0.1259	.	418;418	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	A	418	ENSP00000429276:T418A;ENSP00000429842:T418A;ENSP00000431123:T418A;ENSP00000276467:T418A	ENSP00000276467:T418A	T	+	1	0	SNTG1	51784059	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	3.657000	0.54474	0.095000	0.17434	0.528000	0.53228	ACA	-	NULL		0.368	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	A		-		51621506	1	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	SNP	1.000	G	G	51621506	A	G	51621506	3	3	94	1	0	0	0	0	1	0	0	0	14882	159	6	5	1310	5	SNTG1	8	51621506	Missense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09	28505959	51621506	94742516	34	5312											
DPY19L4	286148	genome.wustl.edu	37	chr8	95801976	95801976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttatatcttttaatagatGgtttgtgaagaaggtgacaa	9	2	1	4			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr8:95801976G>T	ENST00000414645.2	+	19	2109	c.2010G>T	c.(2008-2010)atG>atT	p.M670I	KB-1608C10.2_ENST00000521706.1_RNA|KB-1608C10.2_ENST00000510185.2_RNA	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	670						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTTAATAGATGGTTTGTGAAG	0.274																																																	0								ENSG00000156162						63	72	69					8																	95801976		2203	4299	6502	DPY19L4	SO:0001583	missense	0			-	HGNC		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.2010G>T	8.37:g.95801976G>T	ENSP00000389630:p.Met670Ile	Somatic	0	81	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	77	11.49	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP							pfam_Dpy-19	p.M670I	ENST00000414645.2	37	c.2010	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059038	0.19987	.	.	ENSG00000156162	ENST00000414645	T	0.54279	0.58	5.2	2.34	0.29019	.	0.057194	0.64402	D	0.000002	T	0.25865	0.0630	N	0.04203	-0.255	0.26416	N	0.976184	B	0.02656	0.0	B	0.06405	0.002	T	0.14364	-1.0475	10	0.29301	T	0.29	-10.5803	7.7969	0.29152	0.1412:0.0:0.7268:0.132	.	670	Q7Z388	D19L4_HUMAN	I	670	ENSP00000389630:M670I	ENSP00000389630:M670I	M	+	3	0	DPY19L4	95871152	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.461000	0.35255	0.245000	0.21373	0.563000	0.77884	ATG	-	pfam_Dpy-19		0.274	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	protein_coding	OTTHUMT00000379339.1	G	NM_181787	-		95801976	1	no_errors	ENST00000414645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95801976	G	T	95801976	3	4	94	1	0	0	0	0	1	0	0	0	4745	1348	47	3	2084	3	DPY19L4	8	95801976	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	44180470	95801976	50562046	35	5313											
ADCK5	203054	genome.wustl.edu	37	chr8	145617202	145617202	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttacaccggcttcatccactCggacccacatcctggcaacg	7	17	1	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr8:145617202C>G	ENST00000308860.6	+	10	1120	c.1076C>G	c.(1075-1077)tCg>tGg	p.S359W	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	359	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTCATCCACTCGGACCCACAT	0.577																																																	0								ENSG00000173137						73	75	74					8																	145617202		2202	4300	6502	ADCK5	SO:0001583	missense	0			-	HGNC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1076C>G	8.37:g.145617202C>G	ENSP00000310547:p.Ser359Trp	Somatic	0	13	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP							pfam_UbiB_dom,superfamily_Kinase-like_dom	p.S359W	ENST00000308860.6	37	c.1076	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275859	0.59649	.	.	ENSG00000173137	ENST00000308860	T	0.51071	0.72	5.54	5.54	0.83059	Protein kinase-like domain (1);	0.127000	0.52532	D	0.000068	T	0.67116	0.2859	M	0.72479	2.2	0.80722	D	1	D	0.67145	0.996	D	0.65323	0.934	T	0.70107	-0.4963	10	0.87932	D	0	-17.6427	16.9685	0.86293	0.0:1.0:0.0:0.0	.	359	Q3MIX3	ADCK5_HUMAN	W	359	ENSP00000310547:S359W	ENSP00000310547:S359W	S	+	2	0	ADCK5	145588010	1.000000	0.71417	0.972000	0.41901	0.189000	0.23516	5.102000	0.64572	2.617000	0.88574	0.555000	0.69702	TCG	-	superfamily_Kinase-like_dom		0.577	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	protein_coding	OTTHUMT00000382556.2	C	NM_174922	-		145617202	1	no_errors	ENST00000308860	ensembl	human	known	74_37	missense	SNP	1.000	G	G	145617202	C	G	145617202	3	3	94	1	0	0	0	0	1	0	0	0	291	893	31	4	1114	4	ADCK5	8	145617202	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	49815226	145617202	746820	36	5314											
PAX5	5079	genome.wustl.edu	37	chr9	36966611	36966611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcctctcaaacacgcGgtccagcacctccagctgct	9	17	1	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr9:36966611G>A	ENST00000358127.4	-	6	789	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	PAX5_ENST00000520281.1_Missense_Mutation_p.R196C|PAX5_ENST00000377853.2_Missense_Mutation_p.R239C|PAX5_ENST00000523145.1_Missense_Mutation_p.R131C|PAX5_ENST00000414447.1_Missense_Mutation_p.R196C|PAX5_ENST00000523241.1_Missense_Mutation_p.R239C|PAX5_ENST00000377847.2_Missense_Mutation_p.R239C|PAX5_ENST00000522003.1_Missense_Mutation_p.R131C|PAX5_ENST00000520154.1_Missense_Mutation_p.R239C|PAX5_ENST00000377852.2_Missense_Mutation_p.R239C|PAX5_ENST00000446742.1_Missense_Mutation_p.R173C	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	239					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|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)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TCAAACACGCGGTCCAGCACC	0.622			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																			Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	41	Unknown(41)	haematopoietic_and_lymphoid_tissue(41)						ENSG00000196092						127	101	110					9																	36966611		2203	4300	6503	PAX5	SO:0001583	missense	0			-	HGNC		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.715C>T	9.37:g.36966611G>A	ENSP00000350844:p.Arg239Cys	Somatic	0	28	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP							pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R239C	ENST00000358127.4	37	c.715	CCDS6607.1	9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549205	0.86127	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;D;D;T	0.98207	-4.32;-4.32;-4.28;-4.79;-4.75;-4.71;-3.95;-2.12;-2.61;-4.71;-4.76;1.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;B;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.055;1.0;1.0;1.0;1.0	D;P;D;D;D;B;D;D;D;D	0.80764	0.973;0.732;0.994;0.973;0.994;0.02;0.959;0.973;0.973;0.973	D	0.98626	1.0669	10	0.33141	T	0.24	.	19.4277	0.94751	0.0:0.0:1.0:0.0	.	196;196;173;239;47;239;239;239;239;239	C0KTF8;C0KTF7;C0KTF9;C0KTF6;C0KTE2;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	C	239;131;239;239;239;239;196;173;131;131;196;239;47	ENSP00000350844:R239C;ENSP00000367084:R239C;ENSP00000367083:R239C;ENSP00000429637:R239C;ENSP00000429291:R239C;ENSP00000430773:R196C;ENSP00000404687:R173C;ENSP00000429359:R131C;ENSP00000429197:R131C;ENSP00000412188:R196C;ENSP00000367078:R239C;ENSP00000429404:R47C	ENSP00000350844:R239C	R	-	1	0	PAX5	36956611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.568000	0.86640	0.655000	0.94253	CGC	-	NULL		0.622	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX5	protein_coding	OTTHUMT00000052433.1	G		-		36966611	-1	no_errors	ENST00000358127	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36966611	G	A	36966611	3	1	94	1	0	0	0	0	1	0	0	0	11484	1116	39	1	480	1	PAX5	9	36966611	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09		36966611	104246820	37	5315											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39099994	39099994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcatctccctccattgCgacacaagtgtccataggtg	8	14	2	0	rs528416073		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr9:39099994C>T	ENST00000297668.6	-	18	2982	c.2909G>A	c.(2908-2910)cGc>cAc	p.R970H	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R882H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	970	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCTCCATTGCGACACAAGTG	0.572													C|||	1	0.000199681	0	0	5008	,	,		17441	0		0.001	False		,,,				2504	0																0								ENSG00000106714						9	8	9					9																	39099994		2179	4254	6433	CNTNAP3	SO:0001583	missense	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2909G>A	9.37:g.39099994C>T	ENSP00000297668:p.Arg970His	Somatic	0	58	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	B1AMA0|Q9C0E9	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R970H	ENST00000297668.6	37	c.2909	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	c	3.151	-0.174185	0.06421	.	.	ENSG00000106714	ENST00000297668;ENST00000358144	T;T	0.76448	-1.02;-1.02	3.68	-7.35	0.01422	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.54663	0.1872	N	0.19112	0.55	0.80722	D	1	B;B	0.20368	0.044;0.001	B;B	0.12837	0.008;0.001	T	0.05550	-1.0878	9	0.22109	T	0.4	.	8.488	0.33082	0.2127:0.1198:0.0:0.6676	.	970;970	Q9BZ76-2;Q9BZ76	.;CNTP3_HUMAN	H	970;882	ENSP00000297668:R970H;ENSP00000350863:R882H	ENSP00000297668:R970H	R	-	2	0	CNTNAP3	39089994	0.103000	0.21917	0.019000	0.16419	0.795000	0.44927	0.056000	0.14256	-2.069000	0.00882	-1.166000	0.01754	CGC	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom		0.572	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	C	NM_033655	-		39099994	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	SNP	0.314	T	T	39099994	C	T	39099994	3	4	94	1	0	0	0	0	1	0	0	0	3650	768	27	1	985	1	CNTNAP3	9	39099994	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	2133383	39099994	102113437	38	5316											
URM1	81605	genome.wustl.edu	37	chr9	131151745	131151745	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagtctcccactccaggtGaggaagggatgggtagctgg	17	8	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr9:131151745G>A	ENST00000452446.1	+	4	456	c.394G>A	c.(394-396)Gag>Aag	p.E132K	URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR|RP11-339B21.11_ENST00000609303.1_lincRNA	NM_001135947.2	NP_001129419.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CACTCCAGGTGAGGAAGGGAT	0.552																																																	0								ENSG00000167118						26	34	32					9																	131151745		692	1591	2283	URM1	SO:0001583	missense	0			-	HGNC	AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"chromosome 9 open reading frame 74", "ubiquitin related modifier 1 homolog (S. cerevisiae)"	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000452446.1:c.394G>A	9.37:g.131151745G>A	ENSP00000412922:p.Glu132Lys	Somatic	0	58	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	65	10.96		Missense_Mutation	SNP							pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b	p.E132K	ENST00000452446.1	37	c.394	CCDS48035.1	9	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212983	0.39102	.	.	ENSG00000167118	ENST00000452446	.	.	.	4.24	-0.38	0.12490	.	.	.	.	.	T	0.17916	0.0430	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24693	-1.0153	6	.	.	.	.	3.1711	0.06552	0.3807:0.0:0.4347:0.1846	.	132	Q9BTM9-2	.	K	132	.	.	E	+	1	0	URM1	130191566	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	-0.102000	0.10956	-0.063000	0.13065	-0.140000	0.14226	GAG	-	NULL		0.552	URM1-201	KNOWN	basic|CCDS	protein_coding	URM1	protein_coding		G	NM_030914	-		131151745	1	no_errors	ENST00000452446	ensembl	human	known	74_37	missense	SNP	0.001	A	A	131151745	G	A	131151745	3	1	94	1	0	0	0	0	1	0	0	0	17034	1291	45	2	408	2	URM1	9	131151745	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	92051751	131151745	10061686	39	5317											
GPRIN2	9721	genome.wustl.edu	37	chr10	46999608	46999608	+	Frame_Shift_Del	DEL	C	C	-													tggcatgagggaggtgagggCtggtggctgctgccatgccc					rs374420863		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr10:46999608delC	ENST00000374317.1	+	3	1001	c.728delC	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Del_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGTGAGGGCTGGTGGCTGC	0.632																																																	0								ENSG00000204175						53	57	56					10																	46999608		2203	4300	6503	GPRIN2	SO:0001589	frameshift_variant	0				HGNC	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.728delC	10.37:g.46999608delC	ENSP00000363436:p.Ala243fs	Somatic	0	37	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.29	Q5SVF0	Frame_Shift_Del	DEL							NULL	p.A243fs	ENST00000374317.1	37	c.728	CCDS31192.1	10																																																																																			-	NULL		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	protein_coding	OTTHUMT00000047836.1	C	NM_014696			46999608	1	no_errors	ENST00000374314	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	46999608	C	-	46999608	7	5	94	1	0	1	0	1	0	0	0	0	6732	797	28	0	730	0	GPRIN2	10	46999608	Frame_Shift_Del	DEL	C	TCGA-DX-A8BG-01A-12D-A417-09		46999608	88535139	40	5318											
SAMD8	142891	genome.wustl.edu	37	chr10	76936171	76936171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaagctggaatttcttGcacactttatcctgggttct	8	10	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr10:76936171G>A	ENST00000542569.1	+	6	1072	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SAMD8_ENST00000372690.3_Silent_p.L386L|SAMD8_ENST00000372687.4_3'UTR	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	323					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGAATTTCTTGCACACTTTAT	0.378																																																	0								ENSG00000156671																																			SAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.969G>A	10.37:g.76936171G>A		Somatic	0	51	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q5JSC5|Q5JSC8|Q66K52	Silent	SNP							pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L386	ENST00000542569.1	37	c.1158	CCDS53543.1	10																																																																																			-	NULL		0.378	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	protein_coding		G	NM_144660	-		76936171	1	no_errors	ENST00000372690	ensembl	human	known	74_37	silent	SNP	1.000	A	A	76936171	G	A	76936171	2	1	94	1	0	0	0	0	0	0	0	1	13833	1310	46	2		2	SAMD8	10	76936171	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	29936563	76936171	58598576	41	5319											
FGFR2	2263	genome.wustl.edu	37	chr10	123279550	123279550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttactgccgttcttttcCacgtgcttgatccactggat	7	11	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr10:123279550C>T	ENST00000358487.5	-	7	1154	c.882G>A	c.(880-882)gtG>gtA	p.V294V	FGFR2_ENST00000346997.2_Silent_p.V294V|FGFR2_ENST00000457416.2_Silent_p.V294V|FGFR2_ENST00000360144.3_Silent_p.V205V|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Silent_p.V179V|FGFR2_ENST00000357555.5_Silent_p.V205V|FGFR2_ENST00000356226.4_Silent_p.V179V|FGFR2_ENST00000351936.6_Silent_p.V294V|FGFR2_ENST00000478859.1_Silent_p.V66V|FGFR2_ENST00000369056.1_Silent_p.V294V|FGFR2_ENST00000369060.4_Silent_p.V294V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	294	Ig-like C2-type 3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CGTTCTTTTCCACGTGCTTGA	0.547		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0								ENSG00000066468						129	121	124					10																	123279550		2203	4300	6503	FGFR2	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	-	HGNC	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.882G>A	10.37:g.123279550C>T		Somatic	0	51	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V294	ENST00000358487.5	37	c.882	CCDS31298.1	10																																																																																			-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.547	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	protein_coding	OTTHUMT00000050715.1	C	NM_022976, NM_000141	-		123279550	-1	no_errors	ENST00000457416	ensembl	human	known	74_37	silent	SNP	0.537	T	T	123279550	C	T	123279550	2	4	94	1	0	0	0	0	0	0	0	1	5868	581	21	2		2	FGFR2	10	123279550	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	46343379	123279550	12255197	42	5320											
HBG2	3048	genome.wustl.edu	37	chr11	5275523	5275523	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacatctcctggactcaccTtgaagttctcaggatccaca	6	13	3	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr11:5275523T>C	ENST00000380259.2	-	7	1554	c.314A>G	c.(313-315)aAg>aGg	p.K105R	HBG2_ENST00000380252.1_Splice_Site_p.K95R|HBG2_ENST00000336906.4_Splice_Site_p.K105R			P69892	HBG2_HUMAN	hemoglobin, gamma G	105			K -> N (in Macedonia-II). {ECO:0000269|PubMed:7713741}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGACTCACCTTGAAGTTCTC	0.493																																																	0								ENSG00000196565						161	125	137					11																	5275523		2201	4298	6499	HBG2	SO:0001630	splice_region_variant	0			-	HGNC	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.315+1A>G	11.37:g.5275523T>C		Somatic	0	70	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP							pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.K105R	ENST00000380259.2	37	c.314	CCDS7755.1	11	.	.	.	.	.	.	.	.	.	.	C	0.827	-0.746710	0.03065	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.93547	-3.24;-3.24;-3.24	4.08	0.253	0.15551	Globin-like (2);Globin, structural domain (2);	0.316663	0.33253	N	0.005101	T	0.80914	0.4715	N	0.11927	0.2	0.29269	N	0.870817	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.66685	-0.5861	10	0.02654	T	1	.	8.57	0.33563	0.0:0.4263:0.0:0.5737	.	105;105	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	R	95;105;105;105	ENSP00000369602:K95R;ENSP00000369609:K105R;ENSP00000338082:K105R	ENSP00000338082:K105R	K	-	2	0	HBG2	5232099	0.651000	0.27340	0.665000	0.29768	0.645000	0.38454	-0.109000	0.10840	-0.328000	0.08539	-0.790000	0.03334	AAG	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin		0.493	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG2	protein_coding	OTTHUMT00000142967.2	T	NM_000184	-	Missense_Mutation	5275523	-1	no_errors	ENST00000336906	ensembl	human	known	74_37	missense	SNP	0.998	C	C	5275523	T	C	5275523	5	2	94	1	0	0	0	0	0	0	1	0	6985	1623	56	5	137	5	HBG2	11	5275523	Splice_Site	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09		5275523	129730993	43	5321											
PACSIN3	29763	genome.wustl.edu	37	chr11	47199923	47199923	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcccagggtacctgctcGgaagctcagctcatcagctt	12	13	3	0	rs369095922		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr11:47199923G>A	ENST00000539589.1	-	10	1495	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|PACSIN3_ENST00000298838.6_Nonsense_Mutation_p.R385*	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	385	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GTACCTGCTCGGAAGCTCAGC	0.587																																																	0								ENSG00000165912	G	stop/ARG,stop/ARG,stop/ARG	0,4402		0,0,2201	99	88	92		1153,1153,1153	1.3	1	11		92	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained,stop-gained,stop-gained	PACSIN3	NM_001184974.1,NM_001184975.1,NM_016223.4	,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,	385/425,385/425,385/425	47199923	1,12997	2201	4298	6499	PACSIN3	SO:0001587	stop_gained	0			-	HGNC	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.1153C>T	11.37:g.47199923G>A	ENSP00000440945:p.Arg385*	Somatic	0	26	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	A6NH84|Q9H331|Q9NWV9	Nonsense_Mutation	SNP							pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.R385*	ENST00000539589.1	37	c.1153	CCDS31481.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.095560	0.97276	0.0	1.16E-4	ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462	.	.	.	4.56	1.27	0.21489	.	0.286587	0.32028	N	0.006683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-0.814	13.3213	0.60434	0.0:0.0:0.4172:0.5828	.	.	.	.	X	385	.	ENSP00000298838:R385X	R	-	1	2	PACSIN3	47156499	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.440000	0.44855	0.435000	0.26365	0.462000	0.41574	CGA	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.587	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN3	protein_coding	OTTHUMT00000391632.1	G	NM_016223	-		47199923	-1	no_errors	ENST00000298838	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	47199923	G	A	47199923	4	1	94	1	0	0	0	0	0	1	0	0	11378	1124	39	1	129	1	PACSIN3	11	47199923	Nonsense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	41924400	47199923	87806593	44	5322											
NAALAD2	10003	genome.wustl.edu	37	chr11	89880650	89880650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatgagacaaatgccaActatatatcgattgtggatg	8	9	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr11:89880650A>T	ENST00000534061.1	+	3	577	c.347A>T	c.(346-348)aAc>aTc	p.N116I	NAALAD2_ENST00000525171.1_Missense_Mutation_p.N116I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.N116I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.N116I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	116					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAAATGCCAACTATATATCG	0.368																																																	0								ENSG00000077616						94	93	94					11																	89880650		2201	4299	6500	NAALAD2	SO:0001583	missense	0			-	HGNC	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.347A>T	11.37:g.89880650A>T	ENSP00000432481:p.Asn116Ile	Somatic	0	63	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP							pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.N116I	ENST00000534061.1	37	c.347	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097387	0.76870	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.03	3.91	0.45181	.	0.067885	0.64402	D	0.000014	T	0.68677	0.3027	M	0.86268	2.805	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.996;0.999;0.942	D;D;D;D;P	0.75484	0.976;0.986;0.961;0.945;0.551	T	0.70938	-0.4736	9	.	.	.	-14.0936	10.5172	0.44896	0.9237:0.0:0.0763:0.0	.	116;116;116;116;116	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	I	116;116;116;116;62	ENSP00000432481:N116I;ENSP00000320083:N116I;ENSP00000435249:N116I;ENSP00000365111:N116I;ENSP00000435670:N62I	.	N	+	2	0	NAALAD2	89520298	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.730000	0.68546	0.882000	0.36016	0.524000	0.50904	AAC	-	NULL		0.368	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	protein_coding	OTTHUMT00000389424.2	A	NM_005467	-		89880650	1	no_errors	ENST00000534061	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89880650	A	T	89880650	3	4	94	1	0	0	0	0	1	0	0	0	10130	43	2	5	357	5	NAALAD2	11	89880650	Missense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09	42680727	89880650	45125866	45	5323											
KRT71	112802	genome.wustl.edu	37	chr12	52946513	52946513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcggggtccagctccaCgttgaggggggccaggaggc	18	11	1	1	rs150480717		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr12:52946513C>T	ENST00000267119.5	-	1	418	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	117	Head.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCCAGCTCCACGTTGAGGGGG	0.602																																																	0								ENSG00000139648	C	MET/VAL	0,4406		0,0,2203	102	96	98		349	4.8	1	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT71	NM_033448.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	117/524	52946513	1,13005	2203	4300	6503	KRT71	SO:0001583	missense	0			-	HGNC	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.349G>A	12.37:g.52946513C>T	ENSP00000267119:p.Val117Met	Somatic	0	46	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	52	17.46	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.V117M	ENST00000267119.5	37	c.349	CCDS8831.1	12	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293480	0.40594	0.0	1.16E-4	ENSG00000139648	ENST00000267119	T	0.75821	-0.97	4.82	4.82	0.62117	.	0.000000	0.40640	N	0.001041	T	0.78323	0.4265	M	0.90252	3.1	0.38086	D	0.936824	P	0.40266	0.71	B	0.36378	0.223	D	0.85524	0.1205	10	0.72032	D	0.01	.	14.7712	0.69679	0.0:0.8551:0.1449:0.0	.	117	Q3SY84	K2C71_HUMAN	M	117	ENSP00000267119:V117M	ENSP00000267119:V117M	V	-	1	0	KRT71	51232780	0.309000	0.24518	0.996000	0.52242	0.847000	0.48162	0.595000	0.24029	2.398000	0.81561	0.561000	0.74099	GTG	-	NULL		0.602	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	protein_coding	OTTHUMT00000396487.1	C	NM_033448	rs150480717		52946513	-1	no_errors	ENST00000267119	ensembl	human	known	74_37	missense	SNP	0.983	T	T	52946513	C	T	52946513	3	4	94	1	0	0	0	0	1	0	0	0	8486	536	19	1	1258	1	KRT71	12	52946513	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		52946513	80905382	46	5324											
ACACB	32	genome.wustl.edu	37	chr12	109680379	109680379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accacctacatctatgacttCccggaaatgttcaggcaggc	8	13	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr12:109680379C>A	ENST00000338432.7	+	37	5279	c.5160C>A	c.(5158-5160)ttC>ttA	p.F1720L	ACACB_ENST00000543201.1_Missense_Mutation_p.F386L|ACACB_ENST00000377848.3_Missense_Mutation_p.F1720L|ACACB_ENST00000377854.5_Missense_Mutation_p.F1650L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1720					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCTATGACTTCCCGGAAATGT	0.582																																																	0								ENSG00000076555						82	82	82					12																	109680379		2203	4300	6503	ACACB	SO:0001583	missense	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5160C>A	12.37:g.109680379C>A	ENSP00000341044:p.Phe1720Leu	Somatic	0	28	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP							pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.F1720L	ENST00000338432.7	37	c.5160	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102056	0.37048	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000537347	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.3	4.95	1.57	0.23409	.	0.044864	0.85682	N	0.000000	D	0.96343	0.8807	M	0.79926	2.475	0.58432	D	0.999999	B	0.09022	0.002	B	0.12837	0.008	D	0.93874	0.7165	10	0.51188	T	0.08	.	10.5504	0.45085	0.0:0.7298:0.0:0.2702	.	1720	O00763	ACACB_HUMAN	L	1720;1720;1650;951;386;45	ENSP00000341044:F1720L;ENSP00000367079:F1720L;ENSP00000367085:F1650L;ENSP00000444075:F386L	ENSP00000341044:F1720L	F	+	3	2	ACACB	108164762	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	0.911000	0.28584	0.612000	0.30071	-0.143000	0.13931	TTC	-	NULL		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	C	NM_001093	-		109680379	1	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	SNP	1.000	A	A	109680379	C	A	109680379	3	1	94	1	0	0	0	0	1	0	0	0	107	854	30	3	5302	3	ACACB	12	109680379	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	56733866	109680379	24171516	47	5325											
PDX1	3651	genome.wustl.edu	37	chr13	28498562	28498562	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accgagagacacatcaagatCtggttccaaaaccgccgcat	8	13	2	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr13:28498562C>A	ENST00000381033.4	+	2	695	c.576C>A	c.(574-576)atC>atA	p.I192I		NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ACATCAAGATCTGGTTCCAAA	0.592																																																	0								ENSG00000139515						51	54	53					13																	28498562		2203	4300	6503	PDX1	SO:0001819	synonymous_variant	0			-	HGNC	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"Homeoboxes / ANTP class : HOXL subclass"	6107	protein-coding gene	gene with protein product	"somatostatin transcription factor 1"	600733	"insulin promoter factor 1, homeodomain transcription factor"	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.576C>A	13.37:g.28498562C>A		Somatic	0	61	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.I192	ENST00000381033.4	37	c.576	CCDS9327.1	13																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.592	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDX1	protein_coding	OTTHUMT00000044310.2	C	NM_000209	-		28498562	1	no_errors	ENST00000381033	ensembl	human	known	74_37	silent	SNP	1.000	A	A	28498562	C	A	28498562	2	1	94	1	0	0	0	0	0	0	0	1	11697	903	32	3		3	PDX1	13	28498562	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		28498562	86671316	48	5326											
RB1	5925	genome.wustl.edu	37	chr13	48953787	48953787	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatccatgcttaaatcaGtaagttaaaaacaatataaa	5	5	1	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr13:48953787G>A	ENST00000267163.4	+	14	1527		c.e14+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCTTAAATCAGTAAGTTAAAA	0.428		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	25	Whole gene deletion(15)|Unknown(10)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CS030554|CS040291	RB1	S		ENSG00000139687						19	20	20					13																	48953787		2200	4300	6500	RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1389+1G>A	13.37:g.48953787G>A		Somatic	0	272	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	191	31.79	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP							-	e14+1	ENST00000267163.4	37	c.1389+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392897	0.83011	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7359	0.88392	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47851788	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.575000	0.82447	2.182000	0.69389	0.460000	0.39030	.	-	-		0.428	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-	Intron	48953787	1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	48953787	G	A	48953787	5	1	94	1	0	0	0	0	0	0	1	0	13106	1043	36	2	1444	2	RB1	13	48953787	Splice_Site	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	20455225	48953787	66216091	49	5327											
MYH7	4625	genome.wustl.edu	37	chr14	23895280	23895280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcatgaccagggggttGtccatcacccctgtggcaag	14	11	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr14:23895280G>T	ENST00000355349.3	-	19	2217	c.2055C>A	c.(2053-2055)gaC>gaA	p.D685E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	685	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGGGGGTTGTCCATCACCC	0.557																																																	0								ENSG00000092054						38	35	36					14																	23895280		2203	4300	6503	MYH7	SO:0001583	missense	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2055C>A	14.37:g.23895280G>T	ENSP00000347507:p.Asp685Glu	Somatic	0	37	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D685E	ENST00000355349.3	37	c.2055	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	6.261	0.416333	0.11870	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.89196	-2.48	4.75	4.75	0.60458	Myosin head, motor domain (2);	.	.	.	.	T	0.81446	0.4824	L	0.33137	0.985	0.40457	D	0.9802	B	0.06786	0.001	B	0.17722	0.019	T	0.74822	-0.3534	9	0.23891	T	0.37	.	8.8388	0.35129	0.0801:0.1512:0.7688:0.0	.	685	P12883	MYH7_HUMAN	E	685	ENSP00000347507:D685E	ENSP00000347507:D685E	D	-	3	2	MYH7	22965120	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.491000	0.22419	2.471000	0.83476	0.655000	0.94253	GAC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	G	NM_000257	-		23895280	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23895280	G	T	23895280	3	4	94	1	0	0	0	0	1	0	0	0	10041	1368	48	3	3840	3	MYH7	14	23895280	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09		23895280	83454260	50	5328											
RPS6KL1	83694	genome.wustl.edu	37	chr14	75375803	75375803	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctccccccttcttgCctggggcgctgtagagattg	12	15	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr14:75375803C>T	ENST00000555647.1	-	9	1648		c.e9+1		RPS6KL1_ENST00000557413.1_Splice_Site|RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000358328.4_Splice_Site|RPS6KL1_ENST00000354625.2_Splice_Site			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1							ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCCCTTCTTGCCTGGGGCGCT	0.627																																																	0								ENSG00000198208						56	59	58					14																	75375803		2203	4300	6503	RPS6KL1	SO:0001630	splice_region_variant	0			-	HGNC	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1360+1G>A	14.37:g.75375803C>T		Somatic	0	30	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Splice_Site	SNP							-	e7+1	ENST00000555647.1	37	c.1360+1	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202115	0.79127	.	.	ENSG00000198208	ENST00000555647;ENST00000556848;ENST00000354625;ENST00000553971;ENST00000553789;ENST00000557413;ENST00000358328	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5087	0.75764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KL1	74445556	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.965000	0.76067	2.383000	0.81215	0.655000	0.94253	.	-	-		0.627	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	protein_coding	OTTHUMT00000413732.1	C		-	Intron	75375803	-1	no_errors	ENST00000358328	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	75375803	C	T	75375803	5	4	94	1	0	0	0	0	0	0	1	0	13667	753	26	2	377	2	RPS6KL1	14	75375803	Splice_Site	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	51480523	75375803	31973737	51	5329											
CHRNA7	1139	genome.wustl.edu	37	chr15	32393542	32393542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaccaccaacatttggCtgcaaatggtaagttaagag	8	7	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr15:32393542C>T	ENST00000306901.3	+	3	329	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	CHRNA7_ENST00000455693.2_5'UTR|CHRNA7_ENST00000454250.3_Silent_p.L107L	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	78					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CAACATTTGGCTGCAAATGGT	0.373																																					Esophageal Squamous(193;529 2900 40232 43193)												0								ENSG00000175344						142	137	139					15																	32393542		2201	4300	6501	CHRNA7	SO:0001819	synonymous_variant	0			-	HGNC	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.232C>T	15.37:g.32393542C>T		Somatic	0	36	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L107	ENST00000306901.3	37	c.319	CCDS10027.1	15																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.373	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	protein_coding	OTTHUMT00000251410.2	C		-		32393542	1	no_errors	ENST00000454250	ensembl	human	known	74_37	silent	SNP	1.000	T	T	32393542	C	T	32393542	2	4	94	1	0	0	0	0	0	0	0	1	3390	796	28	2		2	CHRNA7	15	32393542	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		32393542	70137850	52	5330											
WDR76	79968	genome.wustl.edu	37	chr15	44158334	44158334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcactaggcacaacaCtttcactgggcgatggctga	9	12	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr15:44158334C>T	ENST00000263795.6	+	13	1695	c.1625C>T	c.(1624-1626)aCt>aTt	p.T542I	Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000381246.2_Missense_Mutation_p.T478I|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	542										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGGCACAACACTTTCACTGGG	0.453																																																	0								ENSG00000092470						92	85	87					15																	44158334		2198	4298	6496	WDR76	SO:0001583	missense	0			-	HGNC	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1625C>T	15.37:g.44158334C>T	ENSP00000263795:p.Thr542Ile	Somatic	0	35	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A0MNP5|Q05CI4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.T542I	ENST00000263795.6	37	c.1625	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101726	0.56183	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.65916	-0.18;-0.18	5.97	2.8	0.32819	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.197522	0.51477	D	0.000098	T	0.60753	0.2293	M	0.68317	2.08	0.35608	D	0.808446	P	0.46395	0.877	P	0.45881	0.496	T	0.70385	-0.4886	10	0.52906	T	0.07	-7.664	7.9232	0.29859	0.2914:0.6261:0.0:0.0825	.	542	Q9H967	WDR76_HUMAN	I	542;478	ENSP00000263795:T542I;ENSP00000370645:T478I	ENSP00000263795:T542I	T	+	2	0	WDR76	41945626	0.994000	0.37717	0.992000	0.48379	0.812000	0.45895	1.402000	0.34600	1.531000	0.49152	0.655000	0.94253	ACT	-	superfamily_WD40_repeat_dom		0.453	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	protein_coding	OTTHUMT00000133482.2	C	NM_024908	-		44158334	1	no_errors	ENST00000263795	ensembl	human	known	74_37	missense	SNP	0.993	T	T	44158334	C	T	44158334	3	4	94	1	0	0	0	0	1	0	0	0	17333	565	20	2	1675	2	WDR76	15	44158334	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	11764792	44158334	58373058	53	5331											
ARID3B	10620	genome.wustl.edu	37	chr15	74883555	74883555	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgagttccccagccgagctCcaggcagcaattgatggcaa	11	12	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr15:74883555C>T	ENST00000346246.5	+	6	1176	c.945C>T	c.(943-945)ctC>ctT	p.L315L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	315	Interaction with RB1.					nucleus (GO:0005634)	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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCCGAGCTCCAGGCAGCAA	0.567																																																	0								ENSG00000179361						96	110	105					15																	74883555		2197	4296	6493	ARID3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.945C>T	15.37:g.74883555C>T		Somatic	0	60	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	O95443|Q59HC9|Q6P9C9	Silent	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L315	ENST00000346246.5	37	c.945	CCDS10264.1	15																																																																																			-	superfamily_ARID/BRIGHT_DNA-bd		0.567	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	C	NM_006465	-		74883555	1	no_errors	ENST00000346246	ensembl	human	known	74_37	silent	SNP	0.958	T	T	74883555	C	T	74883555	2	4	94	1	0	0	0	0	0	0	0	1	917	842	30	2		2	ARID3B	15	74883555	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	30725221	74883555	27647837	54	5332											
KIF7	374654	genome.wustl.edu	37	chr15	90176192	90176192	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctgtagcaccttctccatCtcctggtccagccacttctt	6	16	3	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr15:90176192C>G	ENST00000394412.3	-	14	2830	c.2754G>C	c.(2752-2754)gaG>gaC	p.E918D		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	918					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTTCTCCATCTCCTGGTCCA	0.627																																																	0								ENSG00000166813						27	25	26					15																	90176192		2199	4295	6494	KIF7	SO:0001583	missense	0			-	HGNC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2754G>C	15.37:g.90176192C>G	ENSP00000377934:p.Glu918Asp	Somatic	0	21	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E918D	ENST00000394412.3	37	c.2754	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688726	0.48097	.	.	ENSG00000166813	ENST00000394412	T	0.36340	1.26	5.02	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.75777	2.31	0.43798	D	0.996349	D;D	0.76494	0.977;0.999	P;D	0.78314	0.725;0.991	T	0.56559	-0.7959	10	0.37606	T	0.19	.	12.1705	0.54155	0.0:0.8288:0.0:0.1712	.	404;918	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	D	918	ENSP00000377934:E918D	ENSP00000377934:E918D	E	-	3	2	KIF7	87977196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.828000	0.27435	1.092000	0.41356	0.462000	0.41574	GAG	-	NULL		0.627	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	protein_coding	OTTHUMT00000347782.1	C	NM_198525	-		90176192	-1	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	SNP	1.000	G	G	90176192	C	G	90176192	3	3	94	1	0	0	0	0	1	0	0	0	8311	912	32	4	1301	4	KIF7	15	90176192	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	15292637	90176192	12355200	55	5333			2	58		2	2	30	C		6.650996e-05
KIF7	374654	genome.wustl.edu	37	chr15	90176221	90176221	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagccacttcttctgctcctCaatcttctaaggaaaagtag	6	12	5	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr15:90176221C>G	ENST00000394412.3	-	14	2801	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	909					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCTGCTCCTCAATCTTCTAA	0.622																																																	0								ENSG00000166813						27	25	26					15																	90176221		2200	4299	6499	KIF7	SO:0001583	missense	0			-	HGNC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2725G>C	15.37:g.90176221C>G	ENSP00000377934:p.Glu909Gln	Somatic	0	20	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E909Q	ENST00000394412.3	37	c.2725	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552408	0.65311	.	.	ENSG00000166813	ENST00000394412	T	0.48522	0.81	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.83275	0.811;0.996	T	0.63514	-0.6620	10	0.22109	T	0.4	.	17.9147	0.88945	0.0:1.0:0.0:0.0	.	395;909	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	909	ENSP00000377934:E909Q	ENSP00000377934:E909Q	E	-	1	0	KIF7	87977225	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.985000	0.70556	2.306000	0.77630	0.462000	0.41574	GAG	-	NULL		0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	protein_coding	OTTHUMT00000347782.1	C	NM_198525	-		90176221	-1	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	SNP	1.000	G	G	90176221	C	G	90176221	3	3	94	1	0	0	0	0	1	0	0	0	8311	835	29	4	1330	4	KIF7	15	90176221	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	29	90176221	12355171	56	5334			2	58		2	2	30	C		6.650996e-05
GRIN2A	2903	genome.wustl.edu	37	chr16	10274089	10274089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtccaggggcagccccgcCgcctgctcggggccccacag	14	19	0	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr16:10274089C>T	ENST00000396573.2	-	3	489	c.180G>A	c.(178-180)gcG>gcA	p.A60A	GRIN2A_ENST00000330684.3_Silent_p.A60A|GRIN2A_ENST00000404927.2_Silent_p.A60A|GRIN2A_ENST00000562109.1_Silent_p.A60A|GRIN2A_ENST00000396575.2_Silent_p.A60A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	60					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCAGCCCCGCCGCCTGCTCGG	0.652																																																	0								ENSG00000183454						60	65	64					16																	10274089		2197	4299	6496	GRIN2A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.180G>A	16.37:g.10274089C>T		Somatic	0	34	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	46	29.23	O00669|Q17RZ6	Silent	SNP							pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A60	ENST00000396573.2	37	c.180	CCDS10539.1	16																																																																																			-	superfamily_Peripla_BP_I		0.652	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	C		-		10274089	-1	no_errors	ENST00000330684	ensembl	human	known	74_37	silent	SNP	0.000	T	T	10274089	C	T	10274089	2	4	94	1	0	0	0	0	0	0	0	1	6781	639	23	1		1	GRIN2A	16	10274089	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		10274089	80080664	57	5335											
GPR114	221188	genome.wustl.edu	37	chr16	57601387	57601387	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttccctcctgcagcaactCtccccagccctggtccctgc	6	21	2	0	rs116286411		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr16:57601387C>T	ENST00000340339.4	+	8	1228	c.705C>T	c.(703-705)ctC>ctT	p.L235L	GPR114_ENST00000349457.3_Silent_p.L235L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	235	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGCAGCAACTCTCCCCAGCCC	0.617																																																	0								ENSG00000159618						78	65	69					16																	57601387		2198	4300	6498	GPR114	SO:0001819	synonymous_variant	0			-	HGNC	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.705C>T	16.37:g.57601387C>T		Somatic	0	25	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.L235	ENST00000340339.4	37	c.705	CCDS10785.1	16																																																																																			-	smart_GPS_dom,pfscan_GPS_dom		0.617	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	protein_coding	OTTHUMT00000257336.3	C	NM_153837	-		57601387	1	no_errors	ENST00000340339	ensembl	human	known	74_37	silent	SNP	0.990	T	T	57601387	C	T	57601387	2	4	94	1	0	0	0	0	0	0	0	1	6633	900	32	2		2	GPR114	16	57601387	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	47327298	57601387	32753366	58	5336											
RLTPR	146206	genome.wustl.edu	37	chr16	67685131	67685131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgcaggagcatgtggaGctgctgggctgtggggctgg	21	7	0	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr16:67685131G>A	ENST00000334583.6	+	23	2554	c.2226G>A	c.(2224-2226)gaG>gaA	p.E742E	RLTPR_ENST00000545661.1_Silent_p.E706E	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	742					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCATGTGGAGCTGCTGGGCT	0.622																																																	0								ENSG00000159753						45	52	50					16																	67685131		2136	4252	6388	RLTPR	SO:0001819	synonymous_variant	0			-	HGNC	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2226G>A	16.37:g.67685131G>A		Somatic	0	50	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	B8X2Z3	Silent	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E742	ENST00000334583.6	37	c.2226	CCDS45513.1	16																																																																																			-	NULL		0.622	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	protein_coding	OTTHUMT00000467858.1	G	NM_001013838	-		67685131	1	no_errors	ENST00000334583	ensembl	human	known	74_37	silent	SNP	1.000	A	A	67685131	G	A	67685131	2	1	94	1	0	0	0	0	0	0	0	1	13402	962	34	2		2	RLTPR	16	67685131	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	10083744	67685131	22669622	59	5337											
CHD3	1107	genome.wustl.edu	37	chr17	7810224	7810224	+	Missense_Mutation	SNP	T	T	G													catcaatgggcgttggtcaaTgccggaactgatgcctgacc							TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:7810224T>G	ENST00000330494.7	+	30	4691	c.4541T>G	c.(4540-4542)aTg>aGg	p.M1514R	CHD3_ENST00000358181.4_Missense_Mutation_p.M1514R|CHD3_ENST00000380358.4_Missense_Mutation_p.M1573R|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1514					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGTTGGTCAATGCCGGAACTG	0.597																																																	0								ENSG00000170004						120	119	120					17																	7810224		2203	4300	6503	CHD3	SO:0001583	missense	0			-	HGNC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4541T>G	17.37:g.7810224T>G	ENSP00000332628:p.Met1514Arg	Somatic	0	22	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.M1514R	ENST00000330494.7	37	c.4541	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	T	10.83	1.462341	0.26248	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91124	-2.79;-2.7;-2.73	4.52	4.52	0.55395	Domain of unknown function DUF1086 (1);	0.000000	0.56097	D	0.000028	D	0.92886	0.7737	M	0.66939	2.045	0.58432	D	0.999996	D;P;P;P	0.57571	0.98;0.531;0.586;0.784	P;B;B;B	0.61533	0.89;0.201;0.302;0.39	D	0.92999	0.6421	10	0.72032	D	0.01	-28.129	9.6375	0.39819	0.0:0.0853:0.0:0.9147	.	90;1514;1514;1573	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	R	1573;1514;1514	ENSP00000369716:M1573R;ENSP00000350907:M1514R;ENSP00000332628:M1514R	ENSP00000332628:M1514R	M	+	2	0	CHD3	7750949	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.486000	0.45259	2.018000	0.59344	0.379000	0.24179	ATG	-	pfam_DUF1086		0.597	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	T	NM_001005273	-		7810224	1	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7810224	T	G	7810224	3	3	94	1	0	0	0	0	1	0	0	0	3328	1464	51	5	4940	5	CHD3	17	7810224	Missense_Mutation	SNP	T	TCGA-DX-A8BG-01A-12D-A417-09		7810224	73384986	60	5338	62	2									
CHD3	1107	genome.wustl.edu	37	chr17	7810227	7810227	+	Missense_Mutation	SNP	C	C	T													caatgggcgttggtcaatgcCggaactgatgcctgacccca					rs368103933		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:7810227C>T	ENST00000330494.7	+	30	4694	c.4544C>T	c.(4543-4545)cCg>cTg	p.P1515L	CHD3_ENST00000358181.4_Missense_Mutation_p.P1515L|CHD3_ENST00000380358.4_Missense_Mutation_p.P1574L|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1515					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1515L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGGTCAATGCCGGAACTGATG	0.592													C|||	1	0.000199681	0	0	5008	,	,		17925	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000170004	C	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	122	122	122		4721,4544,4544	4.5	1	17		122	0,8600		0,0,4300	no	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1574/2060,1515/2001,1515/1967	7810227	1,13005	2203	4300	6503	CHD3	SO:0001583	missense	0			-	HGNC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4544C>T	17.37:g.7810227C>T	ENSP00000332628:p.Pro1515Leu	Somatic	0	22	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P1515L	ENST00000330494.7	37	c.4544	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274498	0.59649	2.27E-4	0.0	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.94537	-3.45;-3.37;-3.36	4.52	4.52	0.55395	Domain of unknown function DUF1086 (1);	0.000000	0.45867	D	0.000325	D	0.97192	0.9082	M	0.80847	2.515	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;0.998;0.999;0.999	D	0.97862	1.0281	10	0.87932	D	0	-12.9622	17.3957	0.87444	0.0:1.0:0.0:0.0	.	91;1515;1515;1574	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	L	1574;1515;1515	ENSP00000369716:P1574L;ENSP00000350907:P1515L;ENSP00000332628:P1515L	ENSP00000332628:P1515L	P	+	2	0	CHD3	7750952	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	5.548000	0.67255	2.493000	0.84123	0.462000	0.41574	CCG	-	pfam_DUF1086		0.592	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	C	NM_001005273	-		7810227	1	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7810227	C	T	7810227	3	4	94	1	0	0	0	0	1	0	0	0	3328	652	23	1	4943	1	CHD3	17	7810227	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	3	7810227	73384983	61	5339	62	2									
CHD3	1107	genome.wustl.edu	37	chr17	7810447	7810447	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccttcccctgcagctaCtccagctccaagtgagaaag	9	14	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:7810447C>G	ENST00000330494.7	+	31	4820	c.4670C>G	c.(4669-4671)aCt>aGt	p.T1557S	CHD3_ENST00000358181.4_Missense_Mutation_p.T1557S|CHD3_ENST00000380358.4_Missense_Mutation_p.T1616S|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1557					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTGCAGCTACTCCAGCTCCA	0.517																																																	0								ENSG00000170004						92	95	94					17																	7810447		2203	4300	6503	CHD3	SO:0001583	missense	0			-	HGNC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4670C>G	17.37:g.7810447C>G	ENSP00000332628:p.Thr1557Ser	Somatic	0	32	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T1557S	ENST00000330494.7	37	c.4670	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749022	0.30955	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90133	-2.62;-2.54;-2.55	4.47	4.47	0.54385	.	0.000000	0.47852	D	0.000218	D	0.84379	0.5459	N	0.08118	0	0.47276	D	0.999379	D;P;P;P	0.61697	0.99;0.951;0.919;0.919	P;P;B;B	0.51701	0.677;0.479;0.373;0.373	D	0.83412	0.0028	10	0.29301	T	0.29	-15.0154	12.1876	0.54247	0.0:0.9139:0.0:0.0861	.	133;1557;1557;1616	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	S	1616;1557;1557	ENSP00000369716:T1616S;ENSP00000350907:T1557S;ENSP00000332628:T1557S	ENSP00000332628:T1557S	T	+	2	0	CHD3	7751172	0.143000	0.22626	1.000000	0.80357	0.962000	0.63368	1.263000	0.33004	2.471000	0.83476	0.407000	0.27541	ACT	-	NULL		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	C	NM_001005273	-		7810447	1	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7810447	C	G	7810447	3	3	94	1	0	0	0	0	1	0	0	0	3328	565	20	4	5073	4	CHD3	17	7810447	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	220	7810447	73384763	62	5340											
MYH13	8735	genome.wustl.edu	37	chr17	10216011	10216011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttttctccaacgatgcGcacttggagttcgccgtctc	10	12	2	0	rs368930513		TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:10216011G>A	ENST00000418404.3	-	30	4408	c.4245C>T	c.(4243-4245)tgC>tgT	p.C1415C	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.C1415C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1415					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.C1415C(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCAACGATGCGCACTTGGAGT	0.552																																																	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)						ENSG00000006788						50	54	53					17																	10216011		2195	4298	6493	MYH13	SO:0001819	synonymous_variant	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4245C>T	17.37:g.10216011G>A		Somatic	0	27	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	O95252|Q9P0U8	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C1415	ENST00000418404.3	37	c.4245	CCDS45613.1	17																																																																																			-	pfam_Myosin_tail		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	G	NM_003802	-		10216011	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	silent	SNP	0.993	A	A	10216011	G	A	10216011	2	1	94	1	0	0	0	0	0	0	0	1	10034	1079	38	1		1	MYH13	17	10216011	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	2405564	10216011	70979199	63	5341											
KRT33B	3884	genome.wustl.edu	37	chr17	39521801	39521801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagcgcaaggtgttgActtcctaatggagaaaaggg	15	7	0	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:39521801A>T	ENST00000251646.3	-	4	642	c.593T>A	c.(592-594)gTc>gAc	p.V198D		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	198	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAAGGTGTTGACTTCCTAATG	0.493																																																	0								ENSG00000131738						43	45	44					17																	39521801		2190	4300	6490	KRT33B	SO:0001583	missense	0			-	HGNC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.593T>A	17.37:g.39521801A>T	ENSP00000251646:p.Val198Asp	Somatic	0	29	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	61	11.59	O76010	Missense_Mutation	SNP							pfam_IF,prints_Keratin_I	p.V198D	ENST00000251646.3	37	c.593	CCDS11389.1	17	.	.	.	.	.	.	.	.	.	.	a	13.34	2.208149	0.39003	.	.	ENSG00000131738	ENST00000251646	D	0.91068	-2.78	4.51	3.42	0.39159	Filament (1);	0.000000	0.56097	D	0.000030	D	0.96408	0.8828	H	0.98048	4.135	0.58432	D	0.999995	D	0.56521	0.976	D	0.69654	0.965	D	0.95278	0.8383	10	0.87932	D	0	.	7.9614	0.30072	0.9038:0.0:0.0962:0.0	.	198	Q14525	KT33B_HUMAN	D	198	ENSP00000251646:V198D	ENSP00000251646:V198D	V	-	2	0	KRT33B	36775327	0.856000	0.29760	0.999000	0.59377	0.120000	0.20174	4.536000	0.60636	0.849000	0.35215	0.528000	0.53228	GTC	-	pfam_IF		0.493	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	protein_coding	OTTHUMT00000257292.1	A	NM_002279	-		39521801	-1	no_errors	ENST00000251646	ensembl	human	known	74_37	missense	SNP	0.999	T	T	39521801	A	T	39521801	3	4	94	1	0	0	0	0	1	0	0	0	8472	275	10	5	637	5	KRT33B	17	39521801	Missense_Mutation	SNP	A	TCGA-DX-A8BG-01A-12D-A417-09	29305790	39521801	41673409	64	5342											
ACSF2	80221	genome.wustl.edu	37	chr17	48538718	48538718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttggccaccgcccaggCgggcatcattctggtgagga	15	12	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:48538718C>T	ENST00000300441.4	+	3	544	c.440C>T	c.(439-441)gCg>gTg	p.A147V	ACSF2_ENST00000502667.1_Splice_Site|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Missense_Mutation_p.A172V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	147					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACCGCCCAGGCGGGCATCATT	0.622																																																	0								ENSG00000167107						40	33	36					17																	48538718		2203	4300	6503	ACSF2	SO:0001583	missense	0			-	HGNC	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.440C>T	17.37:g.48538718C>T	ENSP00000300441:p.Ala147Val	Somatic	0	14	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Splice_Site	SNP							-	e3+2	ENST00000300441.4	37	c.438+2	CCDS11567.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.005571|4.005571	0.74932|0.74932	.|.	.|.	ENSG00000167107|ENSG00000167107	ENST00000502667|ENST00000300441;ENST00000427954	.|T;T	.|0.52057	.|0.68;0.68	5.28|5.28	5.28|5.28	0.74379|0.74379	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.57577	.|0.2063	L|L	0.60904|0.60904	1.88|1.88	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60575	.|0.988;0.976	.|P;P	.|0.57846	.|0.828;0.721	.|T	.|0.53408	.|-0.8443	.|10	.|0.30078	.|T	.|0.28	.|-20.274	12.9444|12.9444	0.58364|0.58364	0.0:0.9213:0.0:0.0787|0.0:0.9213:0.0:0.0787	.|.	.|172;147	.|B4DFQ6;Q96CM8	.|.;ACSF2_HUMAN	.|V	-1|147;172	.|ENSP00000300441:A147V;ENSP00000401831:A172V	.|ENSP00000300441:A147V	.|A	+|+	.|2	.|0	ACSF2|ACSF2	45893717|45893717	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.976000|0.976000	0.68499|0.68499	4.359000|4.359000	0.59449|0.59449	2.467000|2.467000	0.83353|0.83353	0.655000|0.655000	0.94253|0.94253	.|GCG	-	-		0.622	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	protein_coding	OTTHUMT00000367423.3	C	NM_025149	-		48538718	1	no_errors	ENST00000502667	ensembl	human	novel	74_37	splice_site	SNP	0.998	T	T	48538718	C	T	48538718	3	4	94	1	0	0	0	0	1	0	0	0	175	768	27	1	450	1	ACSF2	17	48538718	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	9016917	48538718	32656492	65	5343											
ACSF2	80221	genome.wustl.edu	37	chr17	48539878	48539878	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggcagcacacggcagcatCtggaccagctccaatacaac	9	15	1	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr17:48539878C>T	ENST00000300441.4	+	6	828	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	ACSF2_ENST00000502667.1_Silent_p.L229L|ACSF2_ENST00000541920.1_Silent_p.L82L|ACSF2_ENST00000504392.1_Silent_p.L199L|ACSF2_ENST00000427954.2_Silent_p.L267L	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	242					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACGGCAGCATCTGGACCAGCT	0.617																																																	0								ENSG00000167107						92	77	82					17																	48539878		2203	4300	6503	ACSF2	SO:0001819	synonymous_variant	0			-	HGNC	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.724C>T	17.37:g.48539878C>T		Somatic	0	24	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.L242	ENST00000300441.4	37	c.724	CCDS11567.1	17																																																																																			-	pfam_AMP-dep_Synth/Lig		0.617	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	protein_coding	OTTHUMT00000367423.3	C	NM_025149	-		48539878	1	no_errors	ENST00000300441	ensembl	human	known	74_37	silent	SNP	0.066	T	T	48539878	C	T	48539878	2	4	94	1	0	0	0	0	0	0	0	1	175	912	32	2		2	ACSF2	17	48539878	Silent	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	1160	48539878	32655332	66	5344											
CEACAM8	1088	genome.wustl.edu	37	chr19	43093685	43093685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacattcatagggtcctacGtcattccttgtgacactgag	8	11	3	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr19:43093685G>A	ENST00000244336.5	-	3	728	c.627C>T	c.(625-627)gaC>gaT	p.D209D	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	209	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AGGGTCCTACGTCATTCCTTG	0.517																																																	0								ENSG00000124469						275	247	256					19																	43093685		2203	4300	6503	CEACAM8	SO:0001819	synonymous_variant	0			-	HGNC	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.627C>T	19.37:g.43093685G>A		Somatic	0	84	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	82	28.70	O60399|Q16574	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D209	ENST00000244336.5	37	c.627	CCDS12610.1	19																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.517	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	protein_coding	OTTHUMT00000321430.1	G		-		43093685	-1	no_errors	ENST00000244336	ensembl	human	known	74_37	silent	SNP	0.062	A	A	43093685	G	A	43093685	2	1	94	1	0	0	0	0	0	0	0	1	3200	1136	40	1		1	CEACAM8	19	43093685	Silent	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09		43093685	16035298	67	5345											
ZNF284	342909	genome.wustl.edu	37	chr19	44591144	44591144	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgtttccatcaaagaattCacactggagaaaagccttac	6	10	2	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr19:44591144C>T	ENST00000421176.3	+	5	1729	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	505					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)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TCAAAGAATTCACACTGGAGA	0.413																																																	0								ENSG00000186026						42	45	44					19																	44591144		2145	4283	6428	ZNF284	SO:0001583	missense	0			-	HGNC	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1513C>T	19.37:g.44591144C>T	ENSP00000411032:p.His505Tyr	Somatic	0	48	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	69	9.21	Q86WM1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H505Y	ENST00000421176.3	37	c.1513	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002987	0.54254	.	.	ENSG00000186026	ENST00000421176	T	0.67523	-0.27	2.37	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75162	0.3812	H	0.94264	3.515	0.25805	N	0.98446	B	0.26672	0.156	B	0.27796	0.083	T	0.72144	-0.4379	9	0.87932	D	0	.	11.8212	0.52238	0.0:1.0:0.0:0.0	.	505	Q2VY69	ZN284_HUMAN	Y	505	ENSP00000411032:H505Y	ENSP00000411032:H505Y	H	+	1	0	ZNF284	49282984	1.000000	0.71417	0.015000	0.15790	0.790000	0.44656	4.141000	0.58038	1.311000	0.45024	0.462000	0.41574	CAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	protein_coding	OTTHUMT00000460473.1	C	NM_001037813	-		44591144	1	no_errors	ENST00000421176	ensembl	human	known	74_37	missense	SNP	0.984	T	T	44591144	C	T	44591144	3	4	94	1	0	0	0	0	1	0	0	0	17828	826	29	2	1527	2	ZNF284	19	44591144	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	1497459	44591144	14537839	68	5346											
ZNF74	7625	genome.wustl.edu	37	chr22	20759979	20759979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgcgagactgtgtgCaggggaaaacgcctccacgc	14	15	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr22:20759979C>A	ENST00000400451.2	+	5	1170	c.656C>A	c.(655-657)gCa>gAa	p.A219E	ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.A187E|ZNF74_ENST00000356671.5_Missense_Mutation_p.A219E|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	219					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGACTGTGTGCAGGGGAAAAC	0.692																																																	0								ENSG00000185252						19	27	24					22																	20759979		2025	4166	6191	ZNF74	SO:0001583	missense	0			-	HGNC	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.656C>A	22.37:g.20759979C>A	ENSP00000383301:p.Ala219Glu	Somatic	0	31	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A219E	ENST00000400451.2	37	c.656	CCDS42982.1	22	.	.	.	.	.	.	.	.	.	.	C	8.079	0.771965	0.16051	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.05717	3.45;3.45;3.4	3.67	-1.1	0.09872	.	1.340890	0.05443	N	0.547966	T	0.04588	0.0125	N	0.25332	0.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44967	-0.9293	10	0.25751	T	0.34	-0.7341	4.1083	0.10047	0.3179:0.4881:0.0:0.194	.	219	Q16587	ZNF74_HUMAN	E	219;219;187	ENSP00000383301:A219E;ENSP00000349098:A219E;ENSP00000385855:A187E	ENSP00000349098:A219E	A	+	2	0	ZNF74	19089979	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.245000	0.32790	-0.089000	0.12484	0.655000	0.94253	GCA	-	NULL		0.692	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	protein_coding	OTTHUMT00000319648.2	C	NM_003426	-		20759979	1	no_errors	ENST00000356671	ensembl	human	known	74_37	missense	SNP	0.001	A	A	20759979	C	A	20759979	3	1	94	1	0	0	0	0	1	0	0	0	18134	710	25	3	674	3	ZNF74	22	20759979	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09		20759979	30544587	69	5347											
CSF2RB	1439	genome.wustl.edu	37	chr22	37334252	37334252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacccaggggaacgcccggCagatgtgtccccaacatccc	11	16	0	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr22:37334252C>G	ENST00000403662.3	+	14	2624	c.2402C>G	c.(2401-2403)gCa>gGa	p.A801G	CSF2RB_ENST00000406230.1_Missense_Mutation_p.A807G|CSF2RB_ENST00000262825.5_Missense_Mutation_p.A807G|CSF2RB_ENST00000536485.1_Missense_Mutation_p.A748G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	801					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GAACGCCCGGCAGATGTGTCC	0.662																																																	0								ENSG00000100368						65	69	67					22																	37334252		2203	4300	6503	CSF2RB	SO:0001583	missense	0			-	HGNC	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2402C>G	22.37:g.37334252C>G	ENSP00000384053:p.Ala801Gly	Somatic	0	58	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	69	14.81	Q5JZI1|Q6ICE0	Missense_Mutation	SNP							pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A807G	ENST00000403662.3	37	c.2420	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338881	0.24253	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92099	-2.46;-2.97;-2.97;-2.97	5.4	-7.21	0.01490	.	0.777720	0.10890	N	0.622791	T	0.81559	0.4848	L	0.46157	1.445	0.09310	N	1	B;B	0.15141	0.012;0.007	B;B	0.11329	0.006;0.003	T	0.68021	-0.5519	10	0.16420	T	0.52	-2.2166	0.2917	0.00259	0.3202:0.1836:0.1457:0.3505	.	807;801	P32927-2;P32927	.;IL3RB_HUMAN	G	801;801;807;807;748	ENSP00000384053:A801G;ENSP00000262825:A807G;ENSP00000385271:A807G;ENSP00000440003:A748G	ENSP00000262825:A807G	A	+	2	0	CSF2RB	35664198	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.728000	0.04925	-0.846000	0.04174	-0.300000	0.09419	GCA	-	pirsf_IL3_rcpt_beta		0.662	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	protein_coding	OTTHUMT00000318854.1	C	NM_000395	-		37334252	1	no_errors	ENST00000262825	ensembl	human	known	74_37	missense	SNP	0.000	G	G	37334252	C	G	37334252	3	3	94	1	0	0	0	0	1	0	0	0	3937	710	25	4	2452	4	CSF2RB	22	37334252	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	16574273	37334252	13970314	70	5348											
ODF3B	440836	genome.wustl.edu	37	chr22	50969671	50969671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttcggggagcaatggtgtGccgaggcgcactggggtacg	19	8	0	0			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chr22:50969671G>T	ENST00000428989.2	-	3	366	c.367C>A	c.(367-369)Cac>Aac	p.H123N	ODF3B_ENST00000329363.4_Missense_Mutation_p.H123N|TYMP_ENST00000252029.3_5'Flank|ODF3B_ENST00000403326.1_Missense_Mutation_p.H55N|ODF3B_ENST00000401779.1_Missense_Mutation_p.A99E|TYMP_ENST00000395680.1_5'Flank|TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000405135.1_Missense_Mutation_p.A138E|TYMP_ENST00000395678.3_5'Flank			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	123										lung(2)	2						GCAATGGTGTGCCGAGGCGCA	0.667																																																	0								ENSG00000177989						32	37	35					22																	50969671		2036	4167	6203	ODF3B	SO:0001583	missense	0			-	HGNC		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.367C>A	22.37:g.50969671G>T	ENSP00000390712:p.His123Asn	Somatic	0	32	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A0PK18	Missense_Mutation	SNP							pfam_SHIPPO-rpt	p.H123N	ENST00000428989.2	37	c.367	CCDS43039.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.86|13.86	2.363795|2.363795	0.41902|0.41902	.|.	.|.	ENSG00000177989|ENSG00000177989	ENST00000401779;ENST00000405135|ENST00000329363;ENST00000403326;ENST00000428989	T|T;T;T	0.35789|0.30448	1.29|1.53;1.54;1.53	4.38|4.38	2.27|2.27	0.28462|0.28462	.|.	.|.	.|.	.|.	.|.	T|T	0.29491|0.29491	0.0735|0.0735	L|L	0.41710|0.41710	1.295|1.295	0.26779|0.26779	N|N	0.969633|0.969633	P|P	0.51351|0.42620	0.944|0.785	P|P	0.56042|0.46585	0.79|0.521	T|T	0.11397|0.11397	-1.0589|-1.0589	9|9	0.72032|0.56958	D|D	0.01|0.05	-1.0287|-1.0287	6.5358|6.5358	0.22352|0.22352	0.2213:0.0:0.7787:0.0|0.2213:0.0:0.7787:0.0	.|.	99|123	B5MD02|A8MYP8	.|ODF3B_HUMAN	E|N	99;138|123;55;123	ENSP00000384012:A138E|ENSP00000382804:H123N;ENSP00000385123:H55N;ENSP00000390712:H123N	ENSP00000384310:A99E|ENSP00000382804:H123N	A|H	-|-	2|1	0|0	ODF3B|ODF3B	49316537|49316537	0.936000|0.936000	0.31750|0.31750	0.997000|0.997000	0.53966|0.53966	0.411000|0.411000	0.31082|0.31082	1.362000|1.362000	0.34148|0.34148	0.573000|0.573000	0.29400|0.29400	0.561000|0.561000	0.74099|0.74099	GCA|CAC	-	NULL		0.667	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3B	protein_coding	OTTHUMT00000317626.2	G		-		50969671	-1	no_errors	ENST00000329363	ensembl	human	known	74_37	missense	SNP	0.999	T	T	50969671	G	T	50969671	3	4	94	1	0	0	0	0	1	0	0	0	10832	1319	46	3	410	3	ODF3B	22	50969671	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09	13635419	50969671	334895	71	5349											
SHROOM2	357	genome.wustl.edu	37	chrX	9905384	9905384	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtctgtacacgcggcaGggtgctgagcccgaggcccc	14	14	2	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chrX:9905384G>C	ENST00000380913.3	+	7	3888	c.3798G>C	c.(3796-3798)caG>caC	p.Q1266H	SHROOM2_ENST00000418909.2_Missense_Mutation_p.Q101H	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1266					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)				ACACGCGGCAGGGTGCTGAGC	0.677																																																	0								ENSG00000146950						30	27	28					X																	9905384		2195	4298	6493	SHROOM2	SO:0001583	missense	0			-	HGNC	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.3798G>C	X.37:g.9905384G>C	ENSP00000370299:p.Gln1266His	Somatic	0	27	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	B9EIQ7	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q1266H	ENST00000380913.3	37	c.3798	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520548	0.27211	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.50813	2.21;1.34;0.73	4.98	2.15	0.27550	.	0.406249	0.25083	N	0.033268	T	0.53802	0.1819	L	0.61218	1.895	0.35312	D	0.783952	D;D	0.71674	0.998;0.996	P;P	0.59703	0.838;0.862	T	0.59736	-0.7398	10	0.56958	D	0.05	-4.0591	4.0466	0.09776	0.2204:0.0:0.4732:0.3065	.	101;1266	Q68DU3;Q13796	.;SHRM2_HUMAN	H	1266;101;101;101	ENSP00000370299:Q1266H;ENSP00000415229:Q101H;ENSP00000406724:Q101H	ENSP00000370299:Q1266H	Q	+	3	2	SHROOM2	9865384	0.991000	0.36638	0.010000	0.14722	0.073000	0.16967	0.319000	0.19522	0.026000	0.15269	0.594000	0.82650	CAG	-	NULL		0.677	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	G	NM_001649	-		9905384	1	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	SNP	0.978	C	C	9905384	G	C	9905384	3	2	94	1	0	0	0	0	1	0	0	0	14302	991	35	4	3824	4	SHROOM2	23	9905384	Missense_Mutation	SNP	G	TCGA-DX-A8BG-01A-12D-A417-09		9905384	145365176	72	5350											
CDKL5	6792	genome.wustl.edu	37	chrX	18616676	18616676	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagacttctggatcgttctcCttcaaggtcagcaaaaagaa	9	9	4	2			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chrX:18616676C>G	ENST00000379989.3	+	12	1205	c.920C>G	c.(919-921)cCt>cGt	p.P307R	CDKL5_ENST00000379996.3_Missense_Mutation_p.P307R	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	307					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GATCGTTCTCCTTCAAGGTCA	0.403																																																	0								ENSG00000008086						100	87	91					X																	18616676		2203	4300	6503	CDKL5	SO:0001583	missense	0			-	HGNC	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.920C>G	X.37:g.18616676C>G	ENSP00000369325:p.Pro307Arg	Somatic	0	96	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	132	13.16	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P307R	ENST00000379989.3	37	c.920	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188915	0.78789	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71341	-0.56;-0.56	5.52	5.52	0.82312	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	L	0.34521	1.04	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.81104	-0.1084	10	0.72032	D	0.01	-18.4952	18.4608	0.90737	0.0:1.0:0.0:0.0	.	307	O76039	CDKL5_HUMAN	R	307	ENSP00000369332:P307R;ENSP00000369325:P307R	ENSP00000369325:P307R	P	+	2	0	CDKL5	18526597	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.294000	0.78760	2.301000	0.77427	0.600000	0.82982	CCT	-	superfamily_Kinase-like_dom		0.403	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	protein_coding	OTTHUMT00000055945.2	C	NM_003159	-		18616676	1	no_errors	ENST00000379989	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18616676	C	G	18616676	3	3	94	1	0	0	0	0	1	0	0	0	3159	681	24	4	958	4	CDKL5	23	18616676	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	8711292	18616676	136653884	73	5351											
NHSL2	340527	genome.wustl.edu	37	chrX	71359470	71359470	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cactacaccttcccaactctCcattgaagtggaggccaggg	9	14	1	1			TCGA-DX-A8BG-01A-12D-A417-09	TCGA-DX-A8BG-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be	f98679ff-cde8-4cd6-8906-fa6534122ba7	g.chrX:71359470C>G	ENST00000373677.1	+	2	2236	c.974C>G	c.(973-975)tCc>tGc	p.S325C	NHSL2_ENST00000535692.1_Missense_Mutation_p.S325C|NHSL2_ENST00000540800.1_Missense_Mutation_p.S691C|NHSL2_ENST00000510661.1_Missense_Mutation_p.S460C			Q5HYW2	NHSL2_HUMAN	NHS-like 2	325	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCAACTCTCCATTGAAGTG	0.587																																																	0								ENSG00000204131						49	42	45					X																	71359470		2203	4300	6503	NHSL2	SO:0001583	missense	0			-	HGNC			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.974C>G	X.37:g.71359470C>G	ENSP00000362781:p.Ser325Cys	Somatic	0	33	0		0.452070488223343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.45	B2RN94	Missense_Mutation	SNP							NULL	p.S691C	ENST00000373677.1	37	c.2072		X	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328715	0.41197	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.60299	1.08;0.2;0.4;0.2	5.87	5.87	0.94306	.	0.059866	0.64402	D	0.000002	T	0.71626	0.3362	M	0.76170	2.325	0.45899	D	0.998748	D;D;P	0.56521	0.976;0.976;0.933	P;P;P	0.55391	0.775;0.775;0.775	T	0.75470	-0.3306	10	0.87932	D	0	-12.8259	16.4108	0.83712	0.0:1.0:0.0:0.0	.	691;460;325	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	C	691;325;460;325	ENSP00000444617:S691C;ENSP00000362781:S325C;ENSP00000424079:S460C;ENSP00000444914:S325C	ENSP00000362781:S325C	S	+	2	0	NHSL2	71276195	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	5.961000	0.70356	2.481000	0.83766	0.600000	0.82982	TCC	-	NULL		0.587	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	protein_coding	OTTHUMT00000057170.1	C	NM_001013627	-		71359470	1	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71359470	C	G	71359470	3	3	94	1	0	0	0	0	1	0	0	0	10414	855	30	4	2094	4	NHSL2	23	71359470	Missense_Mutation	SNP	C	TCGA-DX-A8BG-01A-12D-A417-09	52742794	71359470	83911090	74	5352											
GRIK3	2899	genome.wustl.edu	37	chr1	37325619	37325619	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctaaagcgtagagatcCtggatagagagaggtctgtg	15	5	2	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:37325619C>T	ENST00000373091.3	-	6	803		c.e6-1		GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						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)			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)				CGTAGAGATCCTGGATAGAGA	0.577																																																	0								ENSG00000163873						81	86	84					1																	37325619		2203	4300	6503	GRIK3	SO:0001630	splice_region_variant	0			-	HGNC	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.787-1G>A	1.37:g.37325619C>T		Somatic	0	31	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	A9Z1Z8|B1AMS6|Q13004|Q16136	Splice_Site	SNP							-	e6-1	ENST00000373091.3	37	c.787-1	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941129	0.53079	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK3	37098206	1.000000	0.71417	0.983000	0.44433	0.376000	0.30014	5.761000	0.68801	2.677000	0.91161	0.561000	0.74099	.	-	-		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	C	NM_000831	-	Intron	37325619	-1	no_errors	ENST00000373091	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	37325619	C	T	37325619	5	4	95	1	0	0	0	0	0	0	1	0	6777	695	24	2	2017	2	GRIK3	1	37325619	Splice_Site	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09		37325619	211925002	1	5353											
HIVEP3	59269	genome.wustl.edu	37	chr1	42046088	42046088	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggttttaccagctcaagttTttcatctgccttggaagcct	8	10	3	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:42046088T>A	ENST00000372583.1	-	4	5266	c.4381A>T	c.(4381-4383)Aaa>Taa	p.K1461*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1461					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGCTCAAGTTTTTCATCTGCC	0.522																																																	0								ENSG00000127124						105	107	107					1																	42046088		2203	4300	6503	HIVEP3	SO:0001587	stop_gained	0			-	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4381A>T	1.37:g.42046088T>A	ENSP00000361664:p.Lys1461*	Somatic	0	52	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	67	18.29	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1461*	ENST00000372583.1	37	c.4381	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	T	49	16.018718	0.99852	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.37	5.37	0.77165	.	0.226096	0.31102	N	0.008254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0063	11.2316	0.48916	0.0:0.0:0.1531:0.8469	.	.	.	.	X	1461	.	ENSP00000247584:K1461X	K	-	1	0	HIVEP3	41818675	0.760000	0.28428	0.997000	0.53966	0.997000	0.91878	2.900000	0.48687	2.254000	0.74563	0.533000	0.62120	AAA	-	NULL		0.522	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	T	NM_024503	-		42046088	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	nonsense	SNP	0.900	A	A	42046088	T	A	42046088	4	1	95	1	0	0	0	0	0	1	0	0	7190	1850	64	5	2863	5	HIVEP3	1	42046088	Nonsense_Mutation	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09	4720469	42046088	207204533	2	5354											
CLCA2	9635	genome.wustl.edu	37	chr1	86913240	86913240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccatcattctctgcaagCcctgaaagtgacagtgacct	7	13	2	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:86913240C>T	ENST00000370565.4	+	11	1925	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	588					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTCTGCAAGCCCTGAAAGTG	0.483																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0								ENSG00000137975						151	146	148					1																	86913240		2203	4300	6503	CLCA2	SO:0001583	missense	0			-	HGNC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1763C>T	1.37:g.86913240C>T	ENSP00000359596:p.Ala588Val	Somatic	0	34	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	A8K2T3|Q9Y6N2	Missense_Mutation	SNP							pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.A588V	ENST00000370565.4	37	c.1763	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738206	0.30774	.	.	ENSG00000137975	ENST00000370565	T	0.30448	1.53	5.61	4.7	0.59300	Domain of unknown function DUF1973 (1);	0.201250	0.42294	D	0.000727	T	0.12732	0.0309	L	0.56396	1.775	0.31943	N	0.610716	B	0.30763	0.294	B	0.31614	0.133	T	0.09314	-1.0680	10	0.17369	T	0.5	-9.8726	7.4261	0.27100	0.0:0.7125:0.1538:0.1337	.	588	Q9UQC9	CLCA2_HUMAN	V	588	ENSP00000359596:A588V	ENSP00000359596:A588V	A	+	2	0	CLCA2	86685828	0.266000	0.24112	0.996000	0.52242	0.764000	0.43329	0.347000	0.20014	2.653000	0.90120	0.655000	0.94253	GCC	-	pfam_DUF1973,tigrfam_CaCC_prot		0.483	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	protein_coding	OTTHUMT00000028284.1	C	NM_006536	-		86913240	1	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	SNP	0.914	T	T	86913240	C	T	86913240	3	4	95	1	0	0	0	0	1	0	0	0	3460	739	26	2	1805	2	CLCA2	1	86913240	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	44867152	86913240	162337381	3	5355											
MUC1	80128	genome.wustl.edu	37	chr1	155159745	155159745	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctagggggcacatagcGcccatgggtgtggtaggtgg	18	8	0	0	rs572153326		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:155159745G>A	ENST00000334634.4	+	0	3061				RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.R2C|MUC1_ENST00000368393.3_Missense_Mutation_p.A194V|MUC1_ENST00000368395.1_Missense_Mutation_p.R437C|MUC1_ENST00000368398.3_Missense_Mutation_p.R192C|MUC1_ENST00000368389.2_Missense_Mutation_p.R130C|MUC1_ENST00000343256.5_Missense_Mutation_p.R165C|MUC1_ENST00000368392.3_Missense_Mutation_p.R226C|MUC1_ENST00000337604.5_Missense_Mutation_p.R235C|MUC1_ENST00000457295.2_Missense_Mutation_p.R226C|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000338684.5_Missense_Mutation_p.R186C|MUC1_ENST00000438413.1_Missense_Mutation_p.R191C|MUC1_ENST00000368390.3_Missense_Mutation_p.R217C|MUC1_ENST00000368396.4_Missense_Mutation_p.R121C|MUC1_ENST00000342482.4_Missense_Mutation_p.R128C	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCACATAGCGCCCATGGGTG	0.597																																																	0								ENSG00000185499						96	97	97					1																	155159745		2203	4300	6503	MUC1	SO:0001628	intergenic_variant	0			-	HGNC		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155159745G>A		Somatic	0	26	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R437C	ENST00000334634.4	37	c.1309	CCDS1097.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.884434|4.884434	0.91814|0.91814	.|.	.|.	ENSG00000185499|ENSG00000185499	ENST00000368393|ENST00000368395;ENST00000338684;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000425082;ENST00000368389;ENST00000368396;ENST00000343256;ENST00000342482;ENST00000368398;ENST00000368390;ENST00000337604	T|T;T;T;T;T;T;T;T;T;T;T;T	0.57107|0.31510	0.42|1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.000000	.|0.38897	.|N	.|0.001531	T|T	0.44932|0.44932	0.1317|0.1317	M|M	0.79475|0.79475	2.455|2.455	0.25155|0.25155	N|N	0.990392|0.990392	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;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.64830|0.89917	0.978;0.994;0.989;0.978;0.994;0.994|1.0;1.0;1.0;0.997;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.997	B;P;P;B;P;P|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.53649|0.91635	0.389;0.731;0.543;0.389;0.731;0.731|0.997;0.999;0.996;0.962;0.969;0.988;0.999;0.997;0.988;0.997;0.969;0.996;0.996;0.996;0.996;0.886;0.999;0.981;0.983;0.996;0.996;0.999;0.996;0.994;0.969;0.983;0.997;0.996;0.969;0.972;0.886;0.978;0.969;0.991;0.983;0.988;0.995;0.962	T|T	0.32745|0.32745	-0.9895|-0.9895	9|10	0.87932|0.87932	D|D	0|0	-24.8661|-24.8661	12.7814|12.7814	0.57479|0.57479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176;124;215;194;115;154|174;1226;226;232;1214;235;1205;175;191;244;186;121;523;523;437;244;201;139;217;203;200;107;205;179;151;192;165;121;112;235;226;128;119;130;192;191;177;217	B6ECB2;Q7Z539;A5YRU7;A6ZID9;A5YRV4;Q7Z538|B6ECB3;P15941-2;Q7Z547;A6ZID5;P15941-3;P15941-8;P15941-4;A6ZIE3;Q7Z546;B6ECA3;A5YRV1;A6ZIE5;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID7;A6ZIE6;P15941-7;A6ZID6;A5YRV0;A6ZIF0;A5YRU8;A5YRV2;A6ZIE4;P15941-6;P15941-10;Q7Z550;Q7Z551;B1AVR0;Q0VAP5;Q7Z548;Q7Z549;B1AVQ8;A6ZIE0;B1AVQ7;A6ZIE2;Q0VAP6	.;.;.;.;.;.|.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V|C	194|437;186;226;191;226;523;130;121;165;128;192;217;235	ENSP00000357378:A194V|ENSP00000357380:R437C;ENSP00000343482:R186C;ENSP00000357377:R226C;ENSP00000389098:R191C;ENSP00000388172:R226C;ENSP00000357374:R130C;ENSP00000357381:R121C;ENSP00000339690:R165C;ENSP00000342814:R128C;ENSP00000357383:R192C;ENSP00000357375:R217C;ENSP00000338983:R235C	ENSP00000357378:A194V|ENSP00000338983:R235C	A|R	-|-	2|1	0|0	MUC1|MUC1	153426369|153426369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	3.750000|3.750000	0.55157|0.55157	2.372000|2.372000	0.80975|0.80975	0.557000|0.557000	0.71058|0.71058	GCG|CGC	-	NULL		0.597	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC1	protein_coding	OTTHUMT00000086728.1	G	NM_025058	-		155159745	-1	no_errors	ENST00000368395	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155159745	G	A	155159745	1	1	95	0	1	0	0	0	0	0	0	0	9972	1087	38	1		1	MUC1	1	155159745	IGR	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	68246505	155159745	94090876	4	5356											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232561478	232561478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaaggaggaccccctcCtgttgctgcagatgctctcg	11	14	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:232561478C>T	ENST00000366630.1	-	17	4845	c.4487G>A	c.(4486-4488)aGg>aAg	p.R1496K	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R570K|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1496K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1496					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACCCCCTCCTGTTGCTGCA	0.577																																																	0								ENSG00000116991						67	80	76					1																	232561478		2191	4287	6478	SIPA1L2	SO:0001583	missense	0			-	HGNC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4487G>A	1.37:g.232561478C>T	ENSP00000355589:p.Arg1496Lys	Somatic	0	25	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R1496K	ENST00000366630.1	37	c.4487	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.673327	0.96754	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.33216	1.42;1.42;1.42	5.66	5.66	0.87406	.	0.072630	0.53938	D	0.000048	T	0.53126	0.1777	L	0.56280	1.765	0.53688	D	0.999977	D;D	0.67145	0.992;0.996	P;D	0.76071	0.866;0.987	T	0.37337	-0.9710	10	0.39692	T	0.17	-33.7588	20.1225	0.97967	0.0:1.0:0.0:0.0	.	1496;570	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	K	1496;1496;570	ENSP00000355589:R1496K;ENSP00000262861:R1496K;ENSP00000309102:R570K	ENSP00000262861:R1496K	R	-	2	0	SIPA1L2	230628101	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.748000	0.68697	2.831000	0.97527	0.650000	0.86243	AGG	-	pfam_DUF3401		0.577	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	C	XM_045839	-		232561478	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	SNP	1.000	T	T	232561478	C	T	232561478	3	4	95	1	0	0	0	0	1	0	0	0	14338	681	24	2	705	2	SIPA1L2	1	232561478	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	77401733	232561478	16689143	5	5357											
ALLC	55821	genome.wustl.edu	37	chr2	3727502	3727502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggggatccaaggagtcatCcggggcttcgacgtggacgt	16	10	1	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:3727502C>T	ENST00000252505.3	+	5	378	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	91					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AAGGAGTCATCCGGGGCTTCG	0.552										HNSCC(21;0.051)																																							0								ENSG00000151360						151	161	158					2																	3727502		2131	4224	6355	ALLC	SO:0001819	synonymous_variant	0			-	HGNC	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.216C>T	2.37:g.3727502C>T		Somatic	0	45	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP							pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.I72	ENST00000252505.3	37	c.216	CCDS46223.1	2																																																																																			-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase		0.552	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	protein_coding	OTTHUMT00000322855.1	C		-		3727502	1	no_errors	ENST00000252505	ensembl	human	known	74_37	silent	SNP	0.998	T	T	3727502	C	T	3727502	2	4	95	1	0	0	0	0	0	0	0	1	534	845	30	2		2	ALLC	2	3727502	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09		3727502	239471871	6	5358											
C2orf39	92749	genome.wustl.edu	37	chr2	26676386	26676386	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgatgtcctcaagattctgGaggccttcgtcatgggtctg	12	9	4	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:26676386G>T	ENST00000288710.2	+	14	1962	c.1888G>T	c.(1888-1890)Gag>Tag	p.E630*		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	630					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAAGATTCTGGAGGCCTTCGT	0.602																																																	0								ENSG00000157856						57	59	58					2																	26676386		2203	4300	6503	DRC1	SO:0001587	stop_gained	0			-	HGNC	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1888G>T	2.37:g.26676386G>T	ENSP00000288710:p.Glu630*	Somatic	0	27	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Nonsense_Mutation	SNP							NULL	p.E630*	ENST00000288710.2	37	c.1888	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.752511	0.96890	.	.	ENSG00000157856	ENST00000288710	.	.	.	5.03	3.19	0.36642	.	0.212051	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-22.1294	7.1542	0.25628	0.3313:0.0:0.6687:0.0	.	.	.	.	X	630	.	ENSP00000288710:E630X	E	+	1	0	CCDC164	26529890	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.355000	0.20163	1.255000	0.44051	0.609000	0.83330	GAG	-	NULL		0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	protein_coding	OTTHUMT00000246862.1	G	NM_145038	-		26676386	1	no_errors	ENST00000288710	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	26676386	G	T	26676386	4	4	95	1	0	0	0	0	0	1	0	0	2166	1175	41	3	1942	3	C2orf39	2	26676386	Nonsense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	22948884	26676386	216522987	7	5359											
ALK	238	genome.wustl.edu	37	chr2	29940519	29940519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccatgtaaaataatcagGagaaggagaaggcatgtttg	11	4	1	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:29940519G>A	ENST00000389048.3	-	2	1618	c.712C>T	c.(712-714)Cct>Tct	p.P238S	ALK_ENST00000431873.1_Missense_Mutation_p.P238S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	238					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AAATAATCAGGAGAAGGAGAA	0.393			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0								ENSG00000171094						166	145	152					2																	29940519		2203	4300	6503	ALK	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	-	HGNC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.712C>T	2.37:g.29940519G>A	ENSP00000373700:p.Pro238Ser	Somatic	0	46	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P238S	ENST00000389048.3	37	c.712	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901385	0.33535	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79033	-1.23;2.34	4.86	3.96	0.45880	.	.	.	.	.	T	0.60521	0.2275	N	0.14661	0.345	0.30555	N	0.765079	B	0.06786	0.001	B	0.06405	0.002	T	0.53620	-0.8413	8	.	.	.	.	11.4034	0.49883	0.0901:0.0:0.9099:0.0	.	238	Q9UM73	ALK_HUMAN	S	238	ENSP00000373700:P238S;ENSP00000414027:P238S	.	P	-	1	0	ALK	29794023	0.997000	0.39634	0.931000	0.37212	0.244000	0.25665	0.885000	0.28227	2.404000	0.81709	0.655000	0.94253	CCT	-	NULL		0.393	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	G	NM_004304	-		29940519	-1	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	SNP	0.964	A	A	29940519	G	A	29940519	3	1	95	1	0	0	0	0	1	0	0	0	525	1174	41	2	4262	2	ALK	2	29940519	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	3264133	29940519	213258854	8	5360											
LRP1B	53353	genome.wustl.edu	37	chr2	142567933	142567933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacacaagtcacgtgatcGtggcaaagaaattcaccagg	11	9	2	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:142567933G>A	ENST00000389484.3	-	2	1091	c.120C>T	c.(118-120)caC>caT	p.H40H	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	40	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		TCACGTGATCGTGGCAAAGAA	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						61	59	60					2																	142567933		2203	4300	6503	LRP1B	SO:0001819	synonymous_variant	0			-	HGNC	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.120C>T	2.37:g.142567933G>A		Somatic	0	29	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	Q8WY29|Q8WY30|Q8WY31	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H40	ENST00000389484.3	37	c.120	CCDS2182.1	2																																																																																			-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		142567933	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	1.000	A	A	142567933	G	A	142567933	2	1	95	1	0	0	0	0	0	0	0	1	8957	1136	40	1		1	LRP1B	2	142567933	Silent	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	112627414	142567933	100631440	9	5361											
ITGB6	3694	genome.wustl.edu	37	chr2	160980365	160980365	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacacattcttctcgggcttGgccagctgctgacaggtggc	12	13	2	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:160980365G>C	ENST00000283249.2	-	12	2155	c.1918C>G	c.(1918-1920)Caa>Gaa	p.Q640E	ITGB6_ENST00000428609.2_Missense_Mutation_p.Q598E|ITGB6_ENST00000409872.1_Missense_Mutation_p.Q640E|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	640					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTCGGGCTTGGCCAGCTGCT	0.448																																																	0								ENSG00000115221						159	138	145					2																	160980365		2203	4300	6503	ITGB6	SO:0001583	missense	0			-	HGNC		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1918C>G	2.37:g.160980365G>C	ENSP00000283249:p.Gln640Glu	Somatic	0	30	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.Q640E	ENST00000283249.2	37	c.1918	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	0.719	-0.784307	0.02907	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	T;T;T	0.81330	-1.48;-1.48;-1.48	5.74	4.85	0.62838	Integrin beta subunit, tail (2);	0.342160	0.31709	N	0.007190	T	0.66066	0.2752	N	0.21448	0.665	0.28780	N	0.899875	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48636	-0.9018	10	0.05525	T	0.97	.	14.9376	0.70970	0.0:0.0:0.7267:0.2733	.	598;640	E9PEE8;P18564	.;ITB6_HUMAN	E	640;598;640	ENSP00000283249:Q640E;ENSP00000408024:Q598E;ENSP00000386367:Q640E	ENSP00000283249:Q640E	Q	-	1	0	ITGB6	160688611	1.000000	0.71417	0.978000	0.43139	0.495000	0.33615	3.220000	0.51207	1.542000	0.49330	0.561000	0.74099	CAA	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	protein_coding	OTTHUMT00000255036.1	G	NM_000888	-		160980365	-1	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	SNP	0.991	C	C	160980365	G	C	160980365	3	2	95	1	0	0	0	0	1	0	0	0	7901	1357	47	4	464	4	ITGB6	2	160980365	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	18412432	160980365	82219008	10	5362											
G6PC2	57818	genome.wustl.edu	37	chr2	169764394	169764394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaataactacacactgagCttccggttgctctgtgcctt	9	11	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:169764394C>A	ENST00000375363.3	+	5	965	c.873C>A	c.(871-873)agC>agA	p.S291R	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	291					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ACACACTGAGCTTCCGGTTGC	0.493																																																	0								ENSG00000152254						128	123	125					2																	169764394		2203	4300	6503	G6PC2	SO:0001583	missense	0			-	HGNC	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.873C>A	2.37:g.169764394C>A	ENSP00000364512:p.Ser291Arg	Somatic	0	39	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	E9PAX2|Q6AHZ0	Missense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.S291R	ENST00000375363.3	37	c.873	CCDS2230.1	2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.383042	0.25031	.	.	ENSG00000152254	ENST00000375363	T	0.76709	-1.04	5.98	2.89	0.33648	.	0.269559	0.37809	N	0.001922	T	0.60405	0.2266	L	0.37750	1.13	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.52675	-0.8544	10	0.15952	T	0.53	-6.8791	6.9045	0.24301	0.0:0.5991:0.0:0.4009	.	291	Q9NQR9	G6PC2_HUMAN	R	291	ENSP00000364512:S291R	ENSP00000364512:S291R	S	+	3	2	G6PC2	169472640	0.999000	0.42202	0.996000	0.52242	0.129000	0.20672	0.730000	0.26043	0.875000	0.35847	0.655000	0.94253	AGC	-	pirsf_Glucose-6-phosphatase		0.493	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	protein_coding	OTTHUMT00000255234.2	C	NM_021176	-		169764394	1	no_errors	ENST00000375363	ensembl	human	known	74_37	missense	SNP	0.997	A	A	169764394	C	A	169764394	3	1	95	1	0	0	0	0	1	0	0	0	6146	796	28	3	891	3	G6PC2	2	169764394	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	8784029	169764394	73434979	11	5363											
ZAK	51776	genome.wustl.edu	37	chr2	174034619	174034619	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaactatggcattgtcacAggtaagaattcagtgtttga	9	8	2	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:174034619A>G	ENST00000375213.3	+	3	324	c.246A>G	c.(244-246)acA>acG	p.T82T	MLTK_ENST00000480606.1_3'UTR|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Splice_Site_p.T82T|MLTK_ENST00000431503.2_5'UTR|MLTK_ENST00000539448.1_Splice_Site_p.T82T|MLTK_ENST00000409176.2_Splice_Site_p.T82T	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GCATTGTCACAGGTAAGAATT	0.343																																																	0								ENSG00000091436						129	126	127					2																	174034619		2203	4300	6503	MLTK	SO:0001630	splice_region_variant	0			-	Uniprot_gn																												ENST00000375213.3:c.247+1A>G	2.37:g.174034619A>G		Somatic	0	26	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T82	ENST00000375213.3	37	c.246	CCDS42777.1	2																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.343	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	A		-	Silent	174034619	1	no_errors	ENST00000375213	ensembl	human	known	74_37	silent	SNP	1.000	G	G	174034619	A	G	174034619	5	3	95	1	0	0	0	0	0	0	1	0	17519	202	7	5	252	5	ZAK	2	174034619	Splice_Site	SNP	A	TCGA-DX-A8BH-01A-11D-A37C-09	4270225	174034619	69164754	12	5364											
TTN	7273	genome.wustl.edu	37	chr2	179584151	179584151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcacgtctttcagcttgCggatgaaggaaggaggcaca	12	9	3	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:179584151C>A	ENST00000591111.1	-	81	23239	c.23015G>T	c.(23014-23016)cGc>cTc	p.R7672L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7989L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R6745L			Q8WZ42	TITIN_HUMAN	titin	13216	Ig-like 59.				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.R6745H(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)			TTTCAGCTTGCGGATGAAGGA	0.512																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000155657						79	81	80					2																	179584151		1909	4124	6033	TTN	SO:0001583	missense	0			-	HGNC	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.23015G>T	2.37:g.179584151C>A	ENSP00000465570:p.Arg7672Leu	Somatic	0	37	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R6745L	ENST00000591111.1	37	c.20234		2	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985090	0.35036	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76292	0.3967	L	0.42744	1.35	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	T	0.76429	-0.2962	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7672	Q8WZ42	TITIN_HUMAN	L	6745	ENSP00000343764:R6745L	ENSP00000343764:R6745L	R	-	2	0	TTN	179292396	0.947000	0.32204	1.000000	0.80357	0.989000	0.77384	1.414000	0.34736	2.894000	0.99253	0.655000	0.94253	CGC	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179584151	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.989	A	A	179584151	C	A	179584151	3	1	95	1	0	0	0	0	1	0	0	0	16742	768	27	3	80683	3	TTN	2	179584151	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	5549532	179584151	63615222	13	5365											
SLITRK3	22865	genome.wustl.edu	37	chr3	164906374	164906374	+	Frame_Shift_Del	DEL	G	G	-													gatggggttgttgcacatttGggtaaccgggtgggggatgt							TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr3:164906374delG	ENST00000475390.1	-	2	2688	c.2245delC	c.(2245-2247)caafs	p.Q749fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.Q749fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	749					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGCACATTTGGGTAACCGGG	0.592										HNSCC(40;0.11)																																							0								ENSG00000121871						76	75	75					3																	164906374		2203	4300	6503	SLITRK3	SO:0001589	frameshift_variant	0				HGNC	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2245delC	3.37:g.164906374delG	ENSP00000420091:p.Gln749fs	Somatic	0	31	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	Q1RMY6	Frame_Shift_Del	DEL							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q749fs	ENST00000475390.1	37	c.2245	CCDS3197.1	3																																																																																			-	NULL		0.592	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	protein_coding	OTTHUMT00000350126.1	G	NM_014926			164906374	-1	no_errors	ENST00000241274	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	164906374	G	-	164906374	7	5	95	1	0	1	0	1	0	0	0	0	14752	1357	47	0	692	0	SLITRK3	3	164906374	Frame_Shift_Del	DEL	G	TCGA-DX-A8BH-01A-11D-A37C-09		164906374	33116056	14	5366											
CTBP1	1487	genome.wustl.edu	37	chr4	1209972	1209972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggccttggcccgcagcGccactgcctgccccacgcga	12	19	0	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:1209972G>A	ENST00000290921.6	-	5	750	c.569C>T	c.(568-570)gCg>gTg	p.A190V	CTBP1_ENST00000382952.3_Missense_Mutation_p.A179V	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	190					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCGCAGCGCCACTGCCTG	0.682																																																	0								ENSG00000159692						38	36	36					4																	1209972		2203	4297	6500	CTBP1	SO:0001583	missense	0			-	HGNC	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.569C>T	4.37:g.1209972G>A	ENSP00000290921:p.Ala190Val	Somatic	0	26	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.A190V	ENST00000290921.6	37	c.569	CCDS3348.1	4	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503833	0.64410	.	.	ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180	D;D;D	0.84223	-1.82;-1.82;-1.82	4.62	3.77	0.43336	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.053822	0.64402	N	0.000001	D	0.87273	0.6136	M	0.64676	1.99	0.80722	D	1	D;D	0.71674	0.994;0.998	P;P	0.54460	0.654;0.753	D	0.85754	0.1345	10	0.38643	T	0.18	-24.5907	12.6245	0.56622	0.0812:0.0:0.9188:0.0	.	190;179	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	V	179;190;184	ENSP00000372411:A179V;ENSP00000290921:A190V;ENSP00000424684:A184V	ENSP00000290921:A190V	A	-	2	0	CTBP1	1199972	1.000000	0.71417	0.849000	0.33467	0.032000	0.12392	9.010000	0.93611	0.933000	0.37291	0.561000	0.74099	GCG	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd		0.682	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	protein_coding	OTTHUMT00000202938.1	G	NM_001328	-		1209972	-1	no_errors	ENST00000290921	ensembl	human	known	74_37	missense	SNP	0.999	A	A	1209972	G	A	1209972	3	1	95	1	0	0	0	0	1	0	0	0	3999	1087	38	1	773	1	CTBP1	4	1209972	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		1209972	189944304	15	5367											
DSPP	1834	genome.wustl.edu	37	chr4	88537344	88537344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcgatagcagtgacaGcagcaatagcagtgatagca	12	9	0	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:88537344G>A	ENST00000282478.7	+	4	3563	c.3530G>A	c.(3529-3531)aGc>aAc	p.S1177N	DSPP_ENST00000399271.1_Missense_Mutation_p.S1177N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1177	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagtgacagcagcaatagc	0.562																																																	0								ENSG00000152591						52	72	65					4																	88537344		1633	2898	4531	DSPP	SO:0001583	missense	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3530G>A	4.37:g.88537344G>A	ENSP00000282478:p.Ser1177Asn	Somatic	0	45	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A8MUI0|O95815	Missense_Mutation	SNP							NULL	p.S1177N	ENST00000282478.7	37	c.3530	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	g	0.255	-1.003573	0.02128	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	2.34	1.48	0.22813	.	0.953605	0.08550	U	0.929197	T	0.78515	0.4295	L	0.38175	1.15	0.09310	N	1	B	0.23540	0.087	B	0.28784	0.094	T	0.61068	-0.7137	10	0.11794	T	0.64	-5.9401	5.0651	0.14578	0.1784:0.0:0.8216:0.0	.	1177	Q9NZW4	DSPP_HUMAN	N	1177	ENSP00000382213:S1177N;ENSP00000282478:S1177N	ENSP00000282478:S1177N	S	+	2	0	DSPP	88756368	0.915000	0.31059	0.016000	0.15963	0.027000	0.11550	2.050000	0.41297	0.556000	0.29098	0.298000	0.19748	AGC	-	NULL		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	G	NM_014208	-		88537344	1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	SNP	0.201	A	A	88537344	G	A	88537344	3	1	95	1	0	0	0	0	1	0	0	0	4784	971	34	2	3544	2	DSPP	4	88537344	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	87327372	88537344	102616932	16	5368											
MTTP	4547	genome.wustl.edu	37	chr4	100530103	100530103	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatacatgctcgccattgttCaagacatcctacgttttgaa	6	10	1	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:100530103C>A	ENST00000265517.5	+	12	1941	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	MTTP_ENST00000457717.1_Missense_Mutation_p.Q580K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.Q607K			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	580	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CGCCATTGTTCAAGACATCCT	0.403																																																	0								ENSG00000138823						134	129	131					4																	100530103		2203	4300	6503	MTTP	SO:0001583	missense	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1738C>A	4.37:g.100530103C>A	ENSP00000265517:p.Gln580Lys	Somatic	0	9	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP							pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q580K	ENST00000265517.5	37	c.1738	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189049	0.38707	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.66995	-0.24;-0.24;-0.24	5.0	4.15	0.48705	Lipid transport protein, N-terminal (2);Vitellinogen, superhelical (2);	0.165052	0.56097	D	0.000039	T	0.60340	0.2261	L	0.58669	1.825	0.52501	D	0.999958	B;B	0.23735	0.025;0.09	B;B	0.28385	0.031;0.089	T	0.56450	-0.7977	10	0.02654	T	1	-28.3572	15.6762	0.77326	0.0:0.8624:0.1376:0.0	.	607;580	E9PBP6;P55157	.;MTP_HUMAN	K	607;580;580	ENSP00000427679:Q607K;ENSP00000400821:Q580K;ENSP00000265517:Q580K	ENSP00000265517:Q580K	Q	+	1	0	MTTP	100749126	1.000000	0.71417	0.781000	0.31783	0.846000	0.48090	4.402000	0.59722	1.210000	0.43336	-0.176000	0.13171	CAA	-	superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	C		-		100530103	1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100530103	C	A	100530103	3	1	95	1	0	0	0	0	1	0	0	0	9966	827	29	3	1784	3	MTTP	4	100530103	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	11992759	100530103	90624173	17	5369											
SCOC	60592	genome.wustl.edu	37	chr4	141294859	141294859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccctccttctcccggcgCctcaagcggaaggtgagggc	13	15	2	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:141294859C>A	ENST00000608372.1	+	1	196	c.169C>A	c.(169-171)Cct>Act	p.P57T	SCOC_ENST00000506597.1_Missense_Mutation_p.P57T|RP11-425I13.3_ENST00000609616.1_RNA|SCOC_ENST00000394205.3_Intron|SCOC_ENST00000506322.1_Intron|SCOC_ENST00000394201.4_5'UTR|SCOC_ENST00000338517.4_Intron|SCOC_ENST00000394203.3_Intron|SCOC_ENST00000502535.1_5'Flank|RP11-425I13.3_ENST00000608178.1_RNA|SCOC_ENST00000510586.1_5'UTR|SCOC_ENST00000512749.1_Intron|RP11-425I13.3_ENST00000512692.2_RNA			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	57					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					TCTCCCGGCGCCTCAAGCGGA	0.721																																																	0								ENSG00000153130						28	31	30					4																	141294859		692	1591	2283	SCOC	SO:0001583	missense	0			-	HGNC	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.169C>A	4.37:g.141294859C>A	ENSP00000477352:p.Pro57Thr	Somatic	0	60	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	53	26.39	B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP							pfam_DUF2205_coiled-coil	p.P57T	ENST00000608372.1	37	c.169	CCDS54806.1	4	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371488	0.24771	.	.	ENSG00000153130	ENST00000394201;ENST00000506597	.	.	.	5.27	4.43	0.53597	.	1.002640	0.08039	N	0.994872	T	0.39064	0.1064	L	0.29908	0.895	0.31208	N	0.699039	B;B	0.30068	0.267;0.164	B;B	0.30029	0.11;0.06	T	0.41502	-0.9505	9	0.49607	T	0.09	-11.951	10.2289	0.43243	0.0:0.908:0.0:0.092	.	57;57	E9PB65;Q9UIL1	.;SCOC_HUMAN	T	57	.	ENSP00000377751:P57T	P	+	1	0	SCOC	141514309	0.003000	0.15002	0.003000	0.11579	0.012000	0.07955	1.233000	0.32648	1.357000	0.45904	0.563000	0.77884	CCT	-	NULL		0.721	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	protein_coding	OTTHUMT00000257274.2	C		-		141294859	1	no_errors	ENST00000608372	ensembl	human	known	74_37	missense	SNP	0.015	A	A	141294859	C	A	141294859	3	1	95	1	0	0	0	0	1	0	0	0	13941	739	26	3	245	3	SCOC	4	141294859	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	40764756	141294859	49859417	18	5370											
FAT1	2195	genome.wustl.edu	37	chr4	187628455	187628455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatctgtggcttcaacctGgatgatttcactatgtacct	7	9	3	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:187628455G>T	ENST00000441802.2	-	2	2736	c.2527C>A	c.(2527-2529)Cag>Aag	p.Q843K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	843	Cadherin 7. {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						GCTTCAACCTGGATGATTTCA	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						156	153	154					4																	187628455		1973	4129	6102	FAT1	SO:0001583	missense	0			-	HGNC	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.2527C>A	4.37:g.187628455G>T	ENSP00000406229:p.Gln843Lys	Somatic	0	25	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Q843K	ENST00000441802.2	37	c.2527	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378371	0.61735	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51817	0.69	4.95	4.95	0.65309	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.37507	1.11	0.80722	D	1	P	0.38020	0.615	B	0.42386	0.386	T	0.16571	-1.0398	10	0.07813	T	0.8	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	843	Q14517	FAT1_HUMAN	K	843	ENSP00000406229:Q843K	ENSP00000260147:Q843K	Q	-	1	0	FAT1	187865449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.575000	0.86900	0.491000	0.48974	CAG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187628455	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187628455	G	T	187628455	3	4	95	1	0	0	0	0	1	0	0	0	5691	1357	47	3	11343	3	FAT1	4	187628455	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	46333596	187628455	3525821	19	5371											
C6	729	genome.wustl.edu	37	chr5	41149350	41149350	+	Frame_Shift_Del	DEL	T	T	-													cattggaacttacctgaacaTttttcccagtcatagcaggt							TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:41149350delT	ENST00000263413.3	-	17	2880	c.2616delA	c.(2614-2616)aaafs	p.K872fs	C6_ENST00000337836.5_Frame_Shift_Del_p.K872fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	872	C5b-binding domain.|Factor I module (FIM) 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TACCTGAACATTTTTCCCAGT	0.408																																																	0								ENSG00000039537						254	247	249					5																	41149350		2203	4300	6503	C6	SO:0001589	frameshift_variant	0				HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2616delA	5.37:g.41149350delT	ENSP00000263413:p.Lys872fs	Somatic	0	36	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		Frame_Shift_Del	DEL							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.K872fs	ENST00000263413.3	37	c.2616	CCDS3936.1	5																																																																																			-	smart_FacI_MAC		0.408	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	T				41149350	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	frame_shift_del	DEL	0.522	-	-	41149350	T	-	41149350	7	5	95	1	0	1	0	1	0	0	0	0	2317	1490	52	0	196	0	C6	5	41149350	Frame_Shift_Del	DEL	T	TCGA-DX-A8BH-01A-11D-A37C-09		41149350	139765910	20	5372											
RGNEF	64283	genome.wustl.edu	37	chr5	73160684	73160684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttgtaaagatgctgcgcCtgcatgcaccaaggtaattg	12	8	0	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:73160684C>A	ENST00000426542.2	+	16	2110	c.2090C>A	c.(2089-2091)cCt>cAt	p.P697H	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P697H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.P697H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P384H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P697H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P697H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P697H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	697					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)										GATGCTGCGCCTGCATGCACC	0.348																																																	0								ENSG00000214944						103	103	103					5																	73160684		1923	4139	6062	ARHGEF28	SO:0001583	missense	0			-	HGNC		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.2090C>A	5.37:g.73160684C>A	ENSP00000412175:p.Pro697His	Somatic	0	37	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P697H	ENST00000426542.2	37	c.2090	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271960	0.59649	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.92	4.14	0.48551	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.96420	0.8832	M	0.85373	2.75	0.19300	N	0.999974	D;D;D;P	0.67145	0.996;0.994;0.993;0.952	P;D;P;P	0.65233	0.9;0.933;0.897;0.834	D	0.90784	0.4681	9	0.87932	D	0	.	12.808	0.57624	0.0:0.8663:0.0:0.1337	.	384;697;697;697	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	H	697;697;697;697;697;697;384	ENSP00000296794:P697H;ENSP00000441913:P697H;ENSP00000441436:P697H;ENSP00000287898:P697H;ENSP00000411459:P697H;ENSP00000412175:P697H;ENSP00000296799:P384H	ENSP00000287898:P697H	P	+	2	0	RP11-428C6.1	73196440	0.305000	0.24481	0.008000	0.14137	0.004000	0.04260	3.213000	0.51153	1.521000	0.48983	0.655000	0.94253	CCT	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.348	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	C		-		73160684	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	0.400	A	A	73160684	C	A	73160684	3	1	95	1	0	0	0	0	1	0	0	0	13291	681	24	3	2152	3	RGNEF	5	73160684	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	32011334	73160684	107754576	21	5373											
POU5F2	134187	genome.wustl.edu	37	chr5	93076580	93076580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgggcttagggcaccgCtggaagaatttctccaggct	15	9	1	1	rs552948117		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:93076580C>T	ENST00000510627.4	-	1	763	c.690G>A	c.(688-690)caG>caA	p.Q230Q	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'UTR|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	230					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TAGGGCACCGCTGGAAGAATT	0.537													C|||	1	0.000199681	0	0	5008	,	,		17965	0		0.001	False		,,,				2504	0																0								ENSG00000248483						68	67	67					5																	93076580		1973	4178	6151	POU5F2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.690G>A	5.37:g.93076580C>T		Somatic	0	30	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q15169|Q6MZL7|Q8N748	Silent	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q230	ENST00000510627.4	37	c.690	CCDS59489.1	5																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.537	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	protein_coding	OTTHUMT00000369873.5	C	NM_153216	-		93076580	-1	no_errors	ENST00000510627	ensembl	human	known	74_37	silent	SNP	0.996	T	T	93076580	C	T	93076580	2	4	95	1	0	0	0	0	0	0	0	1	12285	796	28	2		2	POU5F2	5	93076580	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	19915896	93076580	87838680	22	5374											
TUBB2B	347733	genome.wustl.edu	37	chr6	3225063	3225063	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtactgctggtactcGgacaccaggtcgttcatgtt	11	11	1	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:3225063G>T	ENST00000259818.7	-	4	1451	c.1260C>A	c.(1258-1260)tcC>tcA	p.S420S	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	420					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|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)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCTGGTACTCGGACACCAGGT	0.642																																																	0								ENSG00000137285						47	34	39					6																	3225063		2202	4282	6484	TUBB2B	SO:0001819	synonymous_variant	0			-	HGNC	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.1260C>A	6.37:g.3225063G>T		Somatic	0	26	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A8K068	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.S420	ENST00000259818.7	37	c.1260	CCDS4485.1	6																																																																																			-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin		0.642	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	protein_coding	OTTHUMT00000039680.2	G	NM_178012	-		3225063	-1	no_errors	ENST00000259818	ensembl	human	known	74_37	silent	SNP	0.493	T	T	3225063	G	T	3225063	2	4	95	1	0	0	0	0	0	0	0	1	16762	1103	39	3		3	TUBB2B	6	3225063	Silent	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		3225063	167890004	23	5375											
MOG	4340	genome.wustl.edu	37	chr6	29625018	29625018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagaccctctctgcccaGctgcctctgctccttcctcc	5	20	3	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:29625018G>A	ENST00000376917.3	+	1	261	c.32G>A	c.(31-33)aGc>aAc	p.S11N	MOG_ENST00000533330.2_Missense_Mutation_p.S11N|MOG_ENST00000431798.2_Missense_Mutation_p.S11N|MOG_ENST00000494692.1_Missense_Mutation_p.S11N|MOG_ENST00000416766.2_Missense_Mutation_p.S11N|MOG_ENST00000483013.1_Missense_Mutation_p.S11N|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Missense_Mutation_p.S11N|MOG_ENST00000376902.3_Missense_Mutation_p.S11N|MOG_ENST00000396701.2_Missense_Mutation_p.S11N|MOG_ENST00000376898.3_Missense_Mutation_p.S11N|MOG_ENST00000376888.2_Missense_Mutation_p.S11N|MOG_ENST00000376894.4_Missense_Mutation_p.S11N|MOG_ENST00000376891.4_Missense_Mutation_p.S11N|MOG_ENST00000396704.3_Missense_Mutation_p.S11N	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	11					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTCTGCCCAGCTGCCTCTGC	0.567																																																	0								ENSG00000204655						106	62	78					6																	29625018		1510	2709	4219	MOG	SO:0001583	missense	0			-	HGNC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.32G>A	6.37:g.29625018G>A	ENSP00000366115:p.Ser11Asn	Somatic	0	29	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP							pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S11N	ENST00000376917.3	37	c.32	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	6.178	0.400938	0.11696	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34667	3.42;3.45;3.45;1.41;3.39;1.37;1.35;3.25;3.4;3.41;3.41;3.39;3.38;3.39	4.58	3.68	0.42216	.	0.270364	0.32703	N	0.005741	T	0.16171	0.0389	L	0.27053	0.805	0.22330	N	0.999199	P;P;B;B;B;B;B;P;B;B;B;P;B	0.40731	0.557;0.728;0.421;0.403;0.275;0.403;0.403;0.557;0.18;0.275;0.403;0.557;0.421	B;P;B;B;B;B;B;B;B;B;B;B;B	0.44359	0.295;0.447;0.073;0.172;0.056;0.158;0.172;0.221;0.025;0.121;0.221;0.152;0.108	T	0.03175	-1.1064	10	0.87932	D	0	.	10.6085	0.45408	0.0:0.1951:0.8049:0.0	.	11;11;11;11;11;11;11;11;11;11;11;11;11	E9PG44;E9PGF0;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.;.	N	11	ENSP00000366115:S11N;ENSP00000366100:S11N;ENSP00000431709:S11N;ENSP00000366085:S11N;ENSP00000366091:S11N;ENSP00000418090:S11N;ENSP00000420350:S11N;ENSP00000409394:S11N;ENSP00000366088:S11N;ENSP00000366095:S11N;ENSP00000410866:S11N;ENSP00000379929:S11N;ENSP00000417405:S11N;ENSP00000379932:S11N	ENSP00000366085:S11N	S	+	2	0	MOG	29732997	0.302000	0.24454	0.772000	0.31596	0.128000	0.20619	2.458000	0.45014	1.228000	0.43614	0.655000	0.94253	AGC	-	pirsf_Myelin-oligodendrocyte_glycop		0.567	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	protein_coding	OTTHUMT00000076160.3	G	NM_002433	-		29625018	1	no_errors	ENST00000376898	ensembl	human	known	74_37	missense	SNP	0.827	A	A	29625018	G	A	29625018	3	1	95	1	0	0	0	0	1	0	0	0	9695	971	34	2	34	2	MOG	6	29625018	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	26399955	29625018	141490049	24	5376											
DHX16	8449	genome.wustl.edu	37	chr6	30632764	30632764	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgaagtgggtggagctgaCggctcctaaggaaagagaag	17	5	0	3	rs544581944	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:30632764C>A	ENST00000376442.3	-	7	1326	c.1131G>T	c.(1129-1131)ccG>ccT	p.P377P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	377					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GTGGAGCTGACGGCTCCTAAG	0.587																																																	0								ENSG00000204560						44	46	45					6																	30632764		1511	2709	4220	DHX16	SO:0001819	synonymous_variant	0			-	HGNC	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1131G>T	6.37:g.30632764C>A		Somatic	0	43	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.00	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P377	ENST00000376442.3	37	c.1131	CCDS4685.1	6																																																																																			-	NULL		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	protein_coding	OTTHUMT00000076076.2	C	NM_003587	-		30632764	-1	no_errors	ENST00000376442	ensembl	human	known	74_37	silent	SNP	0.000	A	A	30632764	C	A	30632764	2	1	95	1	0	0	0	0	0	0	0	1	4504	523	19	3		3	DHX16	6	30632764	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	1007746	30632764	140482303	25	5377											
DNAH8	1769	genome.wustl.edu	37	chr6	38813373	38813373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgcatatctgccattaaGgagaaggatatcgaagccaa	9	7	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:38813373G>A	ENST00000359357.3	+	34	4472	c.4218G>A	c.(4216-4218)aaG>aaA	p.K1406K	DNAH8_ENST00000449981.2_Silent_p.K1623K|DNAH8_ENST00000441566.1_Silent_p.K1406K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1406					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGCCATTAAGGAGAAGGATA	0.368																																																	0								ENSG00000124721						80	74	76					6																	38813373		2203	4300	6503	DNAH8	SO:0001819	synonymous_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4218G>A	6.37:g.38813373G>A		Somatic	0	15	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1406	ENST00000359357.3	37	c.4218		6																																																																																			-	pfam_Dynein_heavy_dom-2		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38813373	1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38813373	G	A	38813373	2	1	95	1	0	0	0	0	0	0	0	1	4609	991	35	2		2	DNAH8	6	38813373	Silent	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	8180609	38813373	132301694	26	5378											
FRK	2444	genome.wustl.edu	37	chr6	116288797	116288797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaactgaccagatcccaatCgcttcagaagctgtatggag	9	11	1	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:116288797C>T	ENST00000606080.1	-	4	1162	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	FRK_ENST00000538210.1_Missense_Mutation_p.R97Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGATCCCAATCGCTTCAGAAG	0.448																																																	0								ENSG00000111816						165	152	156					6																	116288797		2203	4300	6503	FRK	SO:0001583	missense	0			-	HGNC	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.716G>A	6.37:g.116288797C>T	ENSP00000476145:p.Arg239Gln	Somatic	0	46	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.R239Q	ENST00000606080.1	37	c.716	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740858	0.49151	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.26067	1.76;1.76	5.36	3.46	0.39613	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.227351	0.28301	N	0.015843	T	0.06416	0.0165	L	0.33624	1.015	0.33377	D	0.574293	B	0.28439	0.212	B	0.18561	0.022	T	0.19224	-1.0312	10	0.49607	T	0.09	.	2.3622	0.04310	0.2672:0.4916:0.0:0.2412	.	239	P42685	FRK_HUMAN	Q	239;97	ENSP00000357615:R239Q;ENSP00000443075:R97Q	ENSP00000357615:R239Q	R	-	2	0	FRK	116395490	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.751000	0.47508	2.657000	0.90304	0.650000	0.86243	CGA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.448	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	protein_coding	OTTHUMT00000041924.2	C	NM_002031	-		116288797	-1	no_errors	ENST00000606080	ensembl	human	known	74_37	missense	SNP	0.997	T	T	116288797	C	T	116288797	3	4	95	1	0	0	0	0	1	0	0	0	6050	884	31	1	821	1	FRK	6	116288797	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	77475424	116288797	54826270	27	5379											
TPD52L1	7164	genome.wustl.edu	37	chr6	125550267	125550267	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccctccgccttgtagctaGaagacgaaattacaacacta	6	13	0	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:125550267G>T	ENST00000534000.1	+	3	435	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	TPD52L1_ENST00000368388.2_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000534199.1_Nonsense_Mutation_p.E18*|TPD52L1_ENST00000368402.5_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000532429.1_Nonsense_Mutation_p.E18*|TPD52L1_ENST00000304877.13_Nonsense_Mutation_p.E47*|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000528193.1_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000392482.2_Nonsense_Mutation_p.E18*|TPD52L1_ENST00000527711.1_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000524679.1_Nonsense_Mutation_p.E18*	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	47					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTTGTAGCTAGAAGACGAAAT	0.428																																																	0								ENSG00000111907						69	63	65					6																	125550267		2203	4300	6503	TPD52L1	SO:0001587	stop_gained	0			-	HGNC	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.139G>T	6.37:g.125550267G>T	ENSP00000434142:p.Glu47*	Somatic	0	36	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Nonsense_Mutation	SNP							pfam_TPD52	p.E47*	ENST00000534000.1	37	c.139	CCDS5130.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.825556	0.98510	.	.	ENSG00000111907	ENST00000534368;ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.8757	19.3517	0.94389	0.0:0.0:1.0:0.0	.	.	.	.	X	18;47;47;47;47;47;47;18;18;18;18;47	.	ENSP00000306285:E47X	E	+	1	0	TPD52L1	125591966	1.000000	0.71417	0.974000	0.42286	0.731000	0.41821	9.386000	0.97228	2.659000	0.90383	0.585000	0.79938	GAA	-	pfam_TPD52		0.428	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	protein_coding	OTTHUMT00000042065.2	G		-		125550267	1	no_errors	ENST00000534000	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	125550267	G	T	125550267	4	4	95	1	0	0	0	0	0	1	0	0	16405	943	33	3	149	3	TPD52L1	6	125550267	Nonsense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	9261470	125550267	45564800	28	5380											
PHACTR2	9749	genome.wustl.edu	37	chr6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A													gtgatgaagtgcctcccattINSaaaaaaaataccaaggctcc							TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0								ENSG00000112419																																			PHACTR2	SO:0001589	frameshift_variant	0				HGNC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs	Somatic	0	28	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS							pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.N206fs	ENST00000427704.2	37	c.612_613	CCDS47492.1	6																																																																																			-	NULL		0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	protein_coding	OTTHUMT00000042528.2	-	NM_014721			144081696	1	no_errors	ENST00000440869	ensembl	human	known	74_37	frame_shift_ins	INS	0.998:1.000	A	A	144081696	-	A	144081695	7	5	95	1	0	1	1	0	0	0	0	0	11812	1742	61	0	647	0	PHACTR2	6	144081695	Frame_Shift_Ins	INS	-	TCGA-DX-A8BH-01A-11D-A37C-09	18531428	144081695	27033372	29	5381											
C7orf31	136895	genome.wustl.edu	37	chr7	25194754	25194754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggtggggaacatggcGccgcgacagatgtgtgtgtg	19	6	0	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:25194754G>A	ENST00000409280.1	-	6	779	c.471C>T	c.(469-471)ggC>ggT	p.G157G	C7orf31_ENST00000283905.3_Silent_p.G157G			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	157										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGAACATGGCGCCGCGACAGA	0.502																																																	0								ENSG00000153790						125	130	128					7																	25194754		2203	4300	6503	C7orf31	SO:0001819	synonymous_variant	0			-	HGNC	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.471C>T	7.37:g.25194754G>A		Somatic	0	39	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP							NULL	p.G157	ENST00000409280.1	37	c.471	CCDS5394.1	7																																																																																			-	NULL		0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	protein_coding	OTTHUMT00000326929.1	G	NM_138811	-		25194754	-1	no_errors	ENST00000283905	ensembl	human	known	74_37	silent	SNP	0.006	A	A	25194754	G	A	25194754	2	1	95	1	0	0	0	0	0	0	0	1	2389	1074	38	1		1	C7orf31	7	25194754	Silent	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		25194754	133943909	30	5382											
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31102898	31102898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatggctggtgtcgtgcaCgtttccctggctgctctcct	12	13	2	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:31102898C>T	ENST00000304166.4	+	2	307	c.18C>T	c.(16-18)caC>caT	p.H6H	ADCYAP1R1_ENST00000409489.1_Silent_p.H6H|ADCYAP1R1_ENST00000409363.1_Silent_p.H6H|ADCYAP1R1_ENST00000396211.2_Silent_p.H6H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	6					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTCGTGCACGTTTCCCTGG	0.612																																					Ovarian(44;225 1186 2158 11092)												0								ENSG00000078549						156	106	122					7																	31102898		2203	4300	6503	ADCYAP1R1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.18C>T	7.37:g.31102898C>T		Somatic	0	29	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.43	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.H6	ENST00000304166.4	37	c.18	CCDS5433.1	7																																																																																			-	NULL		0.612	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	protein_coding	OTTHUMT00000215041.3	C	NM_001118	-		31102898	1	no_errors	ENST00000304166	ensembl	human	known	74_37	silent	SNP	0.013	T	T	31102898	C	T	31102898	2	4	95	1	0	0	0	0	0	0	0	1	303	535	19	1		1	ADCYAP1R1	7	31102898	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	5908144	31102898	128035765	31	5383											
ZPBP	11055	genome.wustl.edu	37	chr7	50070806	50070806	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaagcagtttgcttaaaatCtgaagaagtttcttctcaaa	7	6	3	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:50070806C>G	ENST00000046087.2	-	5	657	c.588G>C	c.(586-588)caG>caC	p.Q196H	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.Q195H	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	196					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)					TGCTTAAAATCTGAAGAAGTT	0.353																																																	0								ENSG00000042813						57	61	60					7																	50070806		2203	4299	6502	ZPBP	SO:0001583	missense	0			-	HGNC	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.588G>C	7.37:g.50070806C>G	ENSP00000046087:p.Gln196His	Somatic	0	30	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP							pfam_Sp38-bd,pfscan_Ig-like_dom	p.Q196H	ENST00000046087.2	37	c.588	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083914	0.55861	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.54675	0.56;0.56	5.17	4.28	0.50868	.	0.100687	0.44097	D	0.000496	T	0.66297	0.2775	M	0.68317	2.08	0.36384	D	0.8621	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	T	0.72330	-0.4326	9	.	.	.	-9.5571	9.6886	0.40114	0.0:0.835:0.0:0.165	.	195;196	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	H	196;195	ENSP00000046087:Q196H;ENSP00000402071:Q195H	.	Q	-	3	2	ZPBP	50041352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.906000	0.28517	1.291000	0.44653	0.655000	0.94253	CAG	-	pfam_Sp38-bd		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	protein_coding	OTTHUMT00000251374.1	C	NM_007009	-		50070806	-1	no_errors	ENST00000046087	ensembl	human	known	74_37	missense	SNP	1.000	G	G	50070806	C	G	50070806	3	3	95	1	0	0	0	0	1	0	0	0	18226	912	32	4	483	4	ZPBP	7	50070806	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	18967908	50070806	109067857	32	5384											
SEMA3A	10371	genome.wustl.edu	37	chr7	83739786	83739786	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaaaagccagcgttacCtcaggatgatgtccaatttc	7	9	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:83739786C>T	ENST00000265362.4	-	4	767	c.453G>A	c.(451-453)gaG>gaA	p.E151E	SEMA3A_ENST00000436949.1_Splice_Site_p.E151E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	151	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)			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						CCAGCGTTACCTCAGGATGAT	0.373																																																	0								ENSG00000075213						87	84	85					7																	83739786		2203	4300	6503	SEMA3A	SO:0001630	splice_region_variant	0			-	HGNC	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.453+1G>A	7.37:g.83739786C>T		Somatic	0	15	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67		Silent	SNP							pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.E151	ENST00000265362.4	37	c.453	CCDS5599.1	7																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.373	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	C	NM_006080	-	Silent	83739786	-1	no_errors	ENST00000265362	ensembl	human	known	74_37	silent	SNP	1.000	T	T	83739786	C	T	83739786	5	4	95	1	0	0	0	0	0	0	1	0	14032	695	24	2	1918	2	SEMA3A	7	83739786	Splice_Site	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	33668980	83739786	75398877	33	5385											
SSPO	23145	genome.wustl.edu	37	chr7	149516516	149516517	+	RNA	INS	-	-	CGT													agcgccgcctgcgggcatacINScgtccccctgggcccggcgg					rs559607566	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:149516516_149516517insCGT	ENST00000378016.2	+	0	11919_11920							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCGGGCATACCGTCCCCCTGG	0.708														3	0.000599042	8e-04	0	5008	,	,		15630	0		0.002	False		,,,				2504	0																0								ENSG00000197558			2,3756		0,2,1877						2.2	0.3			18	19,7869		0,19,3925	no	coding	SSPO	NM_198455.2		0,21,5802	A1A1,A1R,RR		0.2409,0.0532,0.1803				21,11625				SSPO			0				HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516517_149516519dupCGT		Somatic	0	12	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	8	57.89	Q76B61	RNA	INS							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.708	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		-				149516517	1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	INS	0.986:0.197	CGT	CGT	149516517	-	CGT	149516516	6	5	95	0	1	1	1	0	0	0	0	0	15196	518	18	0		0	SSPO	7	149516516	RNA	INS	-	TCGA-DX-A8BH-01A-11D-A37C-09	65776730	149516516	9622147	34	5386											
LMBR1	64327	genome.wustl.edu	37	chr7	156520638	156520638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttacccttgttccttttgGcattgctgtttcatcaacca	5	12	2	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:156520638G>A	ENST00000353442.5	-	12	1215	c.979C>T	c.(979-981)Cca>Tca	p.P327S	LMBR1_ENST00000354505.4_Missense_Mutation_p.P368S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P175S|LMBR1_ENST00000540390.1_Missense_Mutation_p.P306S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	327					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTTCCTTTTGGCATTGCTGTT	0.363																																																	0								ENSG00000105983						76	68	70					7																	156520638		2203	4300	6503	LMBR1	SO:0001583	missense	0			-	HGNC	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.979C>T	7.37:g.156520638G>A	ENSP00000326604:p.Pro327Ser	Somatic	0	32	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	10.71	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP							pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.P368S	ENST00000353442.5	37	c.1102	CCDS5945.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331035	0.81690	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	4.66	4.66	0.58398	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.67296	-0.5706	10	0.72032	D	0.01	-11.4	17.1573	0.86794	0.0:0.0:1.0:0.0	.	306;368;327	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	S	327;175;366;368;306	ENSP00000326604:P327S;ENSP00000352392:P175S;ENSP00000408256:P366S;ENSP00000346500:P368S;ENSP00000445509:P306S	ENSP00000326604:P327S	P	-	1	0	LMBR1	156213399	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.706000	0.91362	2.153000	0.67306	0.467000	0.42956	CCA	-	pfam_LMBR1-like_membr_prot		0.363	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1	protein_coding	OTTHUMT00000347939.3	G	NM_022458	-		156520638	-1	no_errors	ENST00000354505	ensembl	human	known	74_37	missense	SNP	1.000	A	A	156520638	G	A	156520638	3	1	95	1	0	0	0	0	1	0	0	0	8842	1203	42	2	517	2	LMBR1	7	156520638	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	7004122	156520638	2618025	35	5387											
NEFM	4741	genome.wustl.edu	37	chr8	24774766	24774766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaaagtggaggatgagaaGtcagaaatggaagaggccct	14	6	1	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:24774766G>T	ENST00000221166.5	+	3	2180	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N	NEFM_ENST00000433454.2_Missense_Mutation_p.K90N|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.K466N|NEFM_ENST00000437366.2_Missense_Mutation_p.K466N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	466	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGATGAGAAGTCAGAAATGG	0.468																																																	0								ENSG00000104722						71	71	71					8																	24774766		2203	4300	6503	NEFM	SO:0001583	missense	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1398G>T	8.37:g.24774766G>T	ENSP00000221166:p.Lys466Asn	Somatic	0	26	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP							pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.K466N	ENST00000221166.5	37	c.1398	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722252	0.30503	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94862	-1.81;-1.81;-1.8;-3.54	4.63	1.52	0.23074	.	0.000000	0.47093	D	0.000241	D	0.96034	0.8708	M	0.83953	2.67	0.43317	D	0.995334	D;D	0.69078	0.991;0.997	P;P	0.60789	0.831;0.879	D	0.94489	0.7700	10	0.87932	D	0	.	9.2321	0.37444	0.2888:0.0:0.7112:0.0	.	466;466	E7EMV2;P07197	.;NFM_HUMAN	N	466;466;466;90	ENSP00000221166:K466N;ENSP00000427872:K466N;ENSP00000410137:K466N;ENSP00000412295:K90N	ENSP00000221166:K466N	K	+	3	2	NEFM	24830671	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.697000	0.37784	0.044000	0.15775	-0.363000	0.07495	AAG	-	NULL		0.468	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	G	NM_005382	-		24774766	1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24774766	G	T	24774766	3	4	95	1	0	0	0	0	1	0	0	0	10318	1020	36	3	1408	3	NEFM	8	24774766	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		24774766	121589256	36	5388											
LYN	4067	genome.wustl.edu	37	chr8	56922483	56922483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggagaactaatgccgaCgtgatgaccgccctgtccca	11	13	0	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:56922483C>T	ENST00000519728.1	+	13	1649	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	LYN_ENST00000520220.2_Silent_p.D430D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTAATGCCGACGTGATGACCG	0.498																																																	0								ENSG00000254087						60	58	59					8																	56922483		2203	4300	6503	LYN	SO:0001819	synonymous_variant	0			-	HGNC	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1353C>T	8.37:g.56922483C>T		Somatic	0	13	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	A0AVQ5	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D451	ENST00000519728.1	37	c.1353	CCDS6162.1	8																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	protein_coding	OTTHUMT00000378155.1	C	NM_002350	-		56922483	1	no_errors	ENST00000519728	ensembl	human	known	74_37	silent	SNP	0.042	T	T	56922483	C	T	56922483	2	4	95	1	0	0	0	0	0	0	0	1	9109	535	19	1		1	LYN	8	56922483	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	32147717	56922483	89441539	37	5389											
FAM135B	51059	genome.wustl.edu	37	chr8	139323106	139323106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcccagcgatggaggcActcagtctgtgggggatcct	15	11	3	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:139323106A>C	ENST00000395297.1	-	3	305	c.135T>G	c.(133-135)agT>agG	p.S45R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	45										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGATGGAGGCACTCAGTCTGT	0.552										HNSCC(54;0.14)																																							0								ENSG00000147724						84	81	82					8																	139323106		2003	4168	6171	FAM135B	SO:0001583	missense	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.135T>G	8.37:g.139323106A>C	ENSP00000378710:p.Ser45Arg	Somatic	0	22	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP							pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S45R	ENST00000395297.1	37	c.135	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250388	0.59212	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15139	2.45	5.1	-3.61	0.04556	.	1.242550	0.06046	U	0.655675	T	0.28300	0.0699	L	0.36672	1.1	0.27108	N	0.962456	D	0.71674	0.998	D	0.80764	0.994	T	0.41858	-0.9485	10	0.37606	T	0.19	-10.0084	10.7916	0.46436	0.4818:0.0:0.5182:0.0	.	45	Q49AJ0	F135B_HUMAN	R	45	ENSP00000378710:S45R	ENSP00000160713:S45R	S	-	3	2	FAM135B	139392288	0.942000	0.31987	0.976000	0.42696	0.993000	0.82548	-0.220000	0.09215	-0.632000	0.05553	0.533000	0.62120	AGT	-	NULL		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	A	NM_015912	-		139323106	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	SNP	0.982	C	C	139323106	A	C	139323106	3	2	95	1	0	0	0	0	1	0	0	0	5451	156	6	5	4157	5	FAM135B	8	139323106	Missense_Mutation	SNP	A	TCGA-DX-A8BH-01A-11D-A37C-09	82400623	139323106	7040916	38	5390											
DMRT1	1761	genome.wustl.edu	37	chr9	968119	968119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttcacagtcactcccGtcatcgaggaggacgagtga	12	12	3	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr9:968119G>A	ENST00000382276.3	+	5	1251	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	DMRT1_ENST00000569227.1_Missense_Mutation_p.V210I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	368					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGTCACTCCCGTCATCGAGGA	0.522																																																	0								ENSG00000137090						50	41	44					9																	968119		2203	4300	6503	DMRT1	SO:0001583	missense	0			-	HGNC	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1102G>A	9.37:g.968119G>A	ENSP00000371711:p.Val368Ile	Somatic	0	31	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP							pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.V368I	ENST00000382276.3	37	c.1102	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	G	1.253	-0.618139	0.03663	.	.	ENSG00000137090	ENST00000382276	T	0.17370	2.28	5.68	4.79	0.61399	.	0.336050	0.31461	N	0.007615	T	0.09774	0.0240	N	0.26042	0.785	0.09310	N	1	B	0.31351	0.32	B	0.18561	0.022	T	0.26224	-1.0109	10	0.02654	T	1	.	14.7032	0.69168	0.0695:0.0:0.9305:0.0	.	368	Q9Y5R6	DMRT1_HUMAN	I	368	ENSP00000371711:V368I	ENSP00000371711:V368I	V	+	1	0	DMRT1	958119	0.964000	0.33143	0.287000	0.24848	0.968000	0.65278	2.922000	0.48860	1.415000	0.47037	0.655000	0.94253	GTC	-	NULL		0.522	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	protein_coding	OTTHUMT00000051489.2	G	NM_021951	-		968119	1	no_errors	ENST00000382276	ensembl	human	known	74_37	missense	SNP	0.048	A	A	968119	G	A	968119	3	1	95	1	0	0	0	0	1	0	0	0	4587	1145	40	1	1120	1	DMRT1	9	968119	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		968119	140245312	39	5391											
GTF3C5	9328	genome.wustl.edu	37	chr9	135927532	135927532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcaaggtcttgcttcCcttcatagcctattacatgg	7	12	3	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr9:135927532C>T	ENST00000372097.5	+	5	1177	c.854C>T	c.(853-855)cCc>cTc	p.P285L	GTF3C5_ENST00000372099.6_Missense_Mutation_p.P276L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P160L|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P285L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	285					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTCTTGCTTCCCTTCATAGCC	0.557																																																	0								ENSG00000148308						334	247	276					9																	135927532		2203	4300	6503	GTF3C5	SO:0001583	missense	0			-	HGNC	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.854C>T	9.37:g.135927532C>T	ENSP00000361169:p.Pro285Leu	Somatic	0	32	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP							pfam_TF_IIIC_su-5	p.P285L	ENST00000372097.5	37	c.854	CCDS6958.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855184|4.855184	0.91355|0.91355	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697|ENST00000434175	T;T;T|.	0.54866|.	0.55;0.55;0.55|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78168|0.78168	0.4241|0.4241	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.994;1.0|.	T|T	0.82257|0.82257	-0.0547|-0.0547	10|7	0.87932|0.87932	D|D	0|0	-0.8027|-0.8027	16.9734|16.9734	0.86306|0.86306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	160;285;285|.	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.;.;TF3C5_HUMAN|.	L|S	285;238;276;160;135;285;160|57	ENSP00000361169:P285L;ENSP00000361171:P276L;ENSP00000361180:P285L|.	ENSP00000361161:P135L|ENSP00000387697:P57S	P|P	+|+	2|1	0|0	GTF3C5|GTF3C5	134917353|134917353	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.956000|0.956000	0.61745|0.61745	7.273000|7.273000	0.78527|0.78527	2.250000|2.250000	0.74265|0.74265	0.643000|0.643000	0.83706|0.83706	CCC|CCT	-	pfam_TF_IIIC_su-5		0.557	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	protein_coding	OTTHUMT00000054826.1	C	NM_001122823	-		135927532	1	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135927532	C	T	135927532	3	4	95	1	0	0	0	0	1	0	0	0	6878	623	22	2	872	2	GTF3C5	9	135927532	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	134959413	135927532	5285899	40	5392											
TET1	80312	genome.wustl.edu	37	chr10	70412266	70412266	+	Frame_Shift_Del	DEL	A	A	-													ttttatactcaggtatggtcAaaaaggaaacgcaataagga							TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:70412266delA	ENST00000373644.4	+	6	4585	c.4376delA	c.(4375-4377)caafs	p.Q1459fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1459					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						AGGTATGGTCAAAAAGGAAAC	0.358																																																	0								ENSG00000138336						96	96	96					10																	70412266		2203	4300	6503	TET1	SO:0001589	frameshift_variant	0				HGNC	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.4376delA	10.37:g.70412266delA	ENSP00000362748:p.Gln1459fs	Somatic	0	16	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Del	DEL							pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G1461fs	ENST00000373644.4	37	c.4376	CCDS7281.1	10																																																																																			-	NULL		0.358	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	A	NM_030625			70412266	1	no_errors	ENST00000373644	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70412266	A	-	70412266	7	5	95	1	0	1	0	1	0	0	0	0	15776	130	5	0	4394	0	TET1	10	70412266	Frame_Shift_Del	DEL	A	TCGA-DX-A8BH-01A-11D-A37C-09		70412266	65122481	41	5393											
CCDC147	159686	genome.wustl.edu	37	chr10	106209901	106209901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtagagaaacttaccAatgagctccagaatttaaag	9	6	0	4			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:106209901A>G	ENST00000369704.3	+	17	2583	c.2449A>G	c.(2449-2451)Aat>Gat	p.N817D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		817						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACTTACCAATGAGCTCCA	0.328																																																	0								ENSG00000120051						78	82	80					10																	106209901		2203	4300	6503	CCDC147	SO:0001583	missense	0			-	HGNC																												ENST00000369704.3:c.2449A>G	10.37:g.106209901A>G	ENSP00000358718:p.Asn817Asp	Somatic	0	19	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	D3DRA6|Q8NA27	Missense_Mutation	SNP							superfamily_Homeodomain-like	p.N817D	ENST00000369704.3	37	c.2449	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661055	0.29515	.	.	ENSG00000120051	ENST00000369704	T	0.47177	0.85	5.76	5.76	0.90799	.	0.258042	0.44483	D	0.000442	T	0.38957	0.1060	L	0.41356	1.27	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25152	-1.0140	10	0.11182	T	0.66	-12.3532	16.0745	0.80960	1.0:0.0:0.0:0.0	.	817	Q5T655	CC147_HUMAN	D	817	ENSP00000358718:N817D	ENSP00000358718:N817D	N	+	1	0	CCDC147	106199891	0.997000	0.39634	0.931000	0.37212	0.605000	0.37080	3.521000	0.53472	2.201000	0.70794	0.528000	0.53228	AAT	-	NULL		0.328	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	protein_coding	OTTHUMT00000050216.1	A		-		106209901	1	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	SNP	1.000	G	G	106209901	A	G	106209901	3	3	95	1	0	0	0	0	1	0	0	0	2783	130	5	5	2515	5	CCDC147	10	106209901	Missense_Mutation	SNP	A	TCGA-DX-A8BH-01A-11D-A37C-09	35797635	106209901	29324846	42	5394											
PDCD4	27250	genome.wustl.edu	37	chr10	112653894	112653894	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactctctggagacatatctGaagctgaacattgccttaag	8	9	2	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:112653894G>T	ENST00000280154.7	+	9	1310	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	PDCD4_ENST00000393104.2_Nonsense_Mutation_p.E335*|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	346	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AGACATATCTGAAGCTGAACA	0.328																																					Ovarian(115;1498 1603 9363 40056 40885)												0								ENSG00000150593						133	139	137					10																	112653894		2203	4299	6502	PDCD4	SO:0001587	stop_gained	0			-	HGNC	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1036G>T	10.37:g.112653894G>T	ENSP00000280154:p.Glu346*	Somatic	0	28	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Nonsense_Mutation	SNP							pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.E346*	ENST00000280154.7	37	c.1036	CCDS7567.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.365976	0.98238	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.6135	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	346;335	.	ENSP00000280154:E346X	E	+	1	0	PDCD4	112643884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.473000	0.97714	2.838000	0.97847	0.655000	0.94253	GAA	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.328	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	protein_coding	OTTHUMT00000050361.1	G	NM_014456	-		112653894	1	no_errors	ENST00000280154	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	112653894	G	T	112653894	4	4	95	1	0	0	0	0	0	1	0	0	11623	1291	45	3	1080	3	PDCD4	10	112653894	Nonsense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	6443993	112653894	22880853	43	5395											
UROS	7390	genome.wustl.edu	37	chr10	127495982	127495982	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgtttttctacttacTggaacaaatatattctgcaa	6	6	2	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:127495982T>A	ENST00000368797.4	-	6	618	c.394A>T	c.(394-396)Agg>Tgg	p.R132W	UROS_ENST00000368778.3_Splice_Site_p.S132C|UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368774.1_Missense_Mutation_p.S132C|UROS_ENST00000368786.1_Splice_Site_p.R132W	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	132					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTCTACTTACTGGAACAAATA	0.368																																																	0								ENSG00000188690						141	131	134					10																	127495982		2202	4300	6502	UROS	SO:0001630	splice_region_variant	0			-	HGNC	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"congenital erythropoietic porphyria"	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.394+1A>T	10.37:g.127495982T>A		Somatic	0	43	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP							pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.R132W	ENST00000368797.4	37	c.394	CCDS7648.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.26|15.26	2.782173|2.782173	0.49891|0.49891	.|.	.|.	ENSG00000188690|ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761|ENST00000368778;ENST00000368774	D;D;D|D;D	0.92752|0.93426	-3.1;-3.1;-3.1|-3.22;-3.04	4.56|4.56	-1.33|-1.33	0.09172|0.09172	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);|.	0.259165|.	0.42420|.	D|.	0.000704|.	D|D	0.93324|0.93324	0.7872|0.7872	M|M	0.63428|0.63428	1.95|1.95	0.21604|0.21604	N|N	0.999628|0.999628	D|.	0.61080|.	0.989|.	P|.	0.55545|.	0.778|.	D|D	0.87679|0.87679	0.2546|0.2546	10|7	0.49607|0.59425	T|D	0.09|0.04	-8.2786|-8.2786	13.417|13.417	0.60974|0.60974	0.0:0.0:0.7162:0.2838|0.0:0.0:0.7162:0.2838	.|.	132|.	P10746|.	HEM4_HUMAN|.	W|C	132;132;104|132	ENSP00000357787:R132W;ENSP00000357775:R132W;ENSP00000414833:R104W|ENSP00000357767:S132C;ENSP00000357763:S132C	ENSP00000357775:R132W|ENSP00000357763:S132C	R|S	-|-	1|1	2|0	UROS|UROS	127485972|127485972	0.986000|0.986000	0.35501|0.35501	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	-0.045000|-0.045000	0.12003|0.12003	-0.062000|-0.062000	0.13088|0.13088	0.533000|0.533000	0.62120|0.62120	AGG|AGT	-	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth		0.368	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	protein_coding	OTTHUMT00000050929.1	T	NM_000375	-	Missense_Mutation	127495982	-1	no_errors	ENST00000368786	ensembl	human	known	74_37	missense	SNP	0.997	A	A	127495982	T	A	127495982	5	1	95	1	0	0	0	0	0	0	1	0	17037	1594	55	5	423	5	UROS	10	127495982	Splice_Site	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09	14842088	127495982	8038765	44	5396											
CARS	833	genome.wustl.edu	37	chr11	3038427	3038427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggctgccatatagaggTtgcactgactgaccaaggcc	12	12	0	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:3038427T>C	ENST00000397111.5	-	15	1822	c.1577A>G	c.(1576-1578)aAc>aGc	p.N526S	CARS_ENST00000397114.3_Missense_Mutation_p.N516S|CARS_ENST00000380525.4_Missense_Mutation_p.N609S|CARS_ENST00000401769.3_Missense_Mutation_p.N539S|CARS_ENST00000278224.9_Missense_Mutation_p.N526S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	526					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CATATAGAGGTTGCACTGACT	0.537			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0								ENSG00000110619						107	85	92					11																	3038427		2202	4298	6500	CARS	SO:0001583	missense	0			-	HGNC	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1577A>G	11.37:g.3038427T>C	ENSP00000380300:p.Asn526Ser	Somatic	0	40	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP							pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.N609S	ENST00000397111.5	37	c.1826	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390514	0.82902	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.25	4.25	0.50352	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.989;1.0;1.0;0.989;1.0	P;P;D;D;P;D	0.97110	0.881;0.893;0.999;1.0;0.844;0.987	D	0.84909	0.0847	10	0.66056	D	0.02	-53.4236	13.5163	0.61543	0.0:0.0:0.0:1.0	.	539;609;526;526;609;516	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	609;526;526;516;539	ENSP00000369897:N609S;ENSP00000380300:N526S;ENSP00000278224:N526S;ENSP00000380303:N516S;ENSP00000384069:N539S	ENSP00000278224:N526S	N	-	2	0	CARS	2995003	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.416000	0.80143	1.783000	0.52377	0.374000	0.22700	AAC	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase		0.537	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	protein_coding	OTTHUMT00000030117.4	T	NM_001751	-		3038427	-1	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3038427	T	C	3038427	3	2	95	1	0	0	0	0	1	0	0	0	2659	1725	60	5	709	5	CARS	11	3038427	Missense_Mutation	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09		3038427	131968089	45	5397											
OSBPL5	114879	genome.wustl.edu	37	chr11	3113683	3113683	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcctgggccctgggctGcccaggaaggtggtctggcg	18	12	1	0	rs141473758		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:3113683G>T	ENST00000263650.7	-	19	2397	c.2238C>A	c.(2236-2238)ggC>ggA	p.G746G	OSBPL5_ENST00000542243.1_Silent_p.G377G|OSBPL5_ENST00000348039.5_Silent_p.G678G|OSBPL5_ENST00000478260.1_Silent_p.G200G|OSBPL5_ENST00000389989.3_Silent_p.G678G|OSBPL5_ENST00000525498.1_Silent_p.G657G	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	746					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCCCTGGGCTGCCCAGGAAGG	0.692											OREG0020694	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000021762						20	18	19					11																	3113683		2189	4289	6478	OSBPL5	SO:0001819	synonymous_variant	0			-	HGNC	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2238C>A	11.37:g.3113683G>T		Somatic	0	88	0	608	0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	116	10.08	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G746	ENST00000263650.7	37	c.2238	CCDS31344.1	11																																																																																			-	NULL		0.692	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	protein_coding	OTTHUMT00000032332.2	G		-		3113683	-1	no_errors	ENST00000263650	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3113683	G	T	3113683	2	4	95	1	0	0	0	0	0	0	0	1	11282	1306	46	3		3	OSBPL5	11	3113683	Silent	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	75256	3113683	131892833	46	5398											
OR4A47	403253	genome.wustl.edu	37	chr11	48510958	48510958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccaatggaggactggcttGcactattgtgtttctgctct	12	9	2	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:48510958G>T	ENST00000446524.1	+	1	690	c.614G>T	c.(613-615)tGc>tTc	p.C205F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGACTGGCTTGCACTATTGTG	0.443																																																	0								ENSG00000237388						110	107	108					11																	48510958		2201	4298	6499	OR4A47	SO:0001583	missense	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.614G>T	11.37:g.48510958G>T	ENSP00000412752:p.Cys205Phe	Somatic	0	18	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C205F	ENST00000446524.1	37	c.614	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	12.44	1.938139	0.34189	.	.	ENSG00000237388	ENST00000446524	T	0.27720	1.65	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.43765	0.1262	L	0.31476	0.935	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32214	-0.9915	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	205	Q6IF82	O4A47_HUMAN	F	205	ENSP00000412752:C205F	ENSP00000412752:C205F	C	+	2	0	OR4A47	48467534	0.001000	0.12720	0.022000	0.16811	0.776000	0.43924	1.045000	0.30341	2.082000	0.62665	0.205000	0.17691	TGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	G	NM_001005512	-		48510958	1	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	SNP	0.032	T	T	48510958	G	T	48510958	3	4	95	1	0	0	0	0	1	0	0	0	11044	1319	46	3	616	3	OR4A47	11	48510958	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	45397275	48510958	86495558	47	5399											
MS4A14	84689	genome.wustl.edu	37	chr11	60164142	60164142	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcatttccctacagacctCatagctctctgctggatttt	6	13	2	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:60164142C>T	ENST00000300187.6	+	1	368	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	MS4A14_ENST00000531783.1_Missense_Mutation_p.H31Y|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.H31Y|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	31						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTACAGACCTCATAGCTCTCT	0.453																																																	0								ENSG00000166928						105	87	93					11																	60164142		2203	4300	6503	MS4A14	SO:0001583	missense	0			-	HGNC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.91C>T	11.37:g.60164142C>T	ENSP00000300187:p.His31Tyr	Somatic	0	47	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	66	14.29	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP							pfam_CD20-like	p.H31Y	ENST00000300187.6	37	c.91	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170273	0.78452	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.32272	2.73;1.46;1.5;3.07	4.85	4.85	0.62838	.	0.864972	0.10365	N	0.683538	T	0.45337	0.1337	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.26608	-1.0098	10	0.87932	D	0	-10.4613	13.3508	0.60601	0.0:1.0:0.0:0.0	.	31;31	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	31	ENSP00000300187:H31Y;ENSP00000378453:H31Y;ENSP00000435764:H31Y;ENSP00000433761:H31Y	ENSP00000300187:H31Y	H	+	1	0	MS4A14	59920718	0.989000	0.36119	0.936000	0.37596	0.859000	0.49053	3.171000	0.50824	2.515000	0.84797	0.655000	0.94253	CAT	-	NULL		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	protein_coding	OTTHUMT00000395383.2	C		-		60164142	1	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	SNP	0.977	T	T	60164142	C	T	60164142	3	4	95	1	0	0	0	0	1	0	0	0	9860	826	29	2	93	2	MS4A14	11	60164142	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	11653184	60164142	74842374	48	5400											
ASRGL1	80150	genome.wustl.edu	37	chr11	62105471	62105471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatcccatcgtagtggtcCacggcggcggagccggtccc	14	14	0	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:62105471C>T	ENST00000415229.2	+	2	237	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	ASRGL1_ENST00000535727.1_5'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.H8Y|RP11-703H8.7_ENST00000400902.4_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	8					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CGTAGTGGTCCACGGCGGCGG	0.657																																																	0								ENSG00000162174						18	15	16					11																	62105471		2201	4296	6497	ASRGL1	SO:0001583	missense	0			-	HGNC		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.22C>T	11.37:g.62105471C>T	ENSP00000400057:p.His8Tyr	Somatic	0	35	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP							pfam_Peptidase_T2	p.H8Y	ENST00000415229.2	37	c.22	CCDS8019.1	11	.	.	.	.	.	.	.	.	.	.	c	18.23	3.578898	0.65878	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.88896	-2.44;-2.44	4.36	4.36	0.52297	.	0.114193	0.64402	D	0.000015	D	0.96815	0.8960	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97292	0.9925	10	0.62326	D	0.03	-20.4722	12.2532	0.54610	0.0:1.0:0.0:0.0	.	8	Q7L266	ASGL1_HUMAN	Y	8	ENSP00000400057:H8Y;ENSP00000301776:H8Y	ENSP00000301776:H8Y	H	+	1	0	ASRGL1	61862047	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	4.627000	0.61276	2.255000	0.74692	0.555000	0.69702	CAC	-	pfam_Peptidase_T2		0.657	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASRGL1	protein_coding	OTTHUMT00000394865.1	C	NM_001083926	-		62105471	1	no_errors	ENST00000301776	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62105471	C	T	62105471	3	4	95	1	0	0	0	0	1	0	0	0	1060	594	21	2	24	2	ASRGL1	11	62105471	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	1941329	62105471	72901045	49	5401											
GRM5	2915	genome.wustl.edu	37	chr11	88583213	88583213	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagcttcttcagcagcttatCaaagctctgctcccctgcat	7	14	4	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:88583213C>G	ENST00000305447.4	-	2	921	c.772G>C	c.(772-774)Gat>Cat	p.D258H	GRM5_ENST00000305432.5_Missense_Mutation_p.D258H|GRM5_ENST00000393297.1_Missense_Mutation_p.D258H|GRM5_ENST00000418177.2_Missense_Mutation_p.D258H|GRM5_ENST00000455756.2_Missense_Mutation_p.D258H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	258					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D258N(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGCAGCTTATCAAAGCTCTGC	0.522																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000168959						35	36	35					11																	88583213		2201	4296	6497	GRM5	SO:0001583	missense	0			-	HGNC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.772G>C	11.37:g.88583213C>G	ENSP00000306138:p.Asp258His	Somatic	0	35	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	Q6J164	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.D258H	ENST00000305447.4	37	c.772	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499973	0.85176	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91358	0.7274	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	D	0.91072	0.4893	9	.	.	.	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	258;258	P41594-2;P41594	.;GRM5_HUMAN	H	258	ENSP00000402912:D258H;ENSP00000405690:D258H;ENSP00000305905:D258H;ENSP00000306138:D258H;ENSP00000376975:D258H	.	D	-	1	0	GRM5	88222861	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.145000	0.77365	2.528000	0.85240	0.563000	0.77884	GAT	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	protein_coding	OTTHUMT00000259226.1	C	NM_000842	-		88583213	-1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	SNP	1.000	G	G	88583213	C	G	88583213	3	3	95	1	0	0	0	0	1	0	0	0	6802	826	29	4	2898	4	GRM5	11	88583213	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	26477742	88583213	46423303	50	5402											
FAT3	120114	genome.wustl.edu	37	chr11	92532352	92532352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggtagaagccagccGtgagctggaccatctgcgtg	16	10	1	2	rs199620788		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:92532352G>A	ENST00000298047.6	+	9	6190	c.6173G>A	c.(6172-6174)cGt>cAt	p.R2058H	FAT3_ENST00000409404.2_Missense_Mutation_p.R2058H|FAT3_ENST00000525166.1_Missense_Mutation_p.R1908H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2058	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)				GAAGCCAGCCGTGAGCTGGAC	0.483										TCGA Ovarian(4;0.039)			G|||	1	0.000199681	0	0	5008	,	,		19857	0		0	False		,,,				2504	0.001																0								ENSG00000165323	G	HIS/ARG	1,3943		0,1,1971	62	66	65		6173	5	1	11		65	1,8339		0,1,4169	yes	missense	FAT3	NM_001008781.2	29	0,2,6140	AA,AG,GG		0.012,0.0254,0.0163	probably-damaging	2058/4558	92532352	2,12282	1972	4170	6142	FAT3	SO:0001583	missense	0			-	HGNC	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.6173G>A	11.37:g.92532352G>A	ENSP00000298047:p.Arg2058His	Somatic	0	18	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2058H	ENST00000298047.6	37	c.6173		11	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648873	0.67358	2.54E-4	1.2E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51325	0.71;0.71;0.71	5.9	4.97	0.65823	.	.	.	.	.	T	0.66327	0.2778	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.70256	-0.4922	9	0.72032	D	0.01	.	16.3101	0.82865	0.0:0.0:0.8667:0.1333	.	2058	Q8TDW7-3	.	H	2058;2058;1908	ENSP00000298047:R2058H;ENSP00000387040:R2058H;ENSP00000432586:R1908H	ENSP00000298047:R2058H	R	+	2	0	FAT3	92172000	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.673000	0.68109	1.459000	0.47892	0.655000	0.94253	CGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		G	NM_001008781	rs199620788		92532352	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92532352	G	A	92532352	3	1	95	1	0	0	0	0	1	0	0	0	5693	1145	40	1	6207	1	FAT3	11	92532352	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	3949139	92532352	42474164	51	5403											
HSPB2	3316	genome.wustl.edu	37	chr11	111784579	111784579	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccctgcgcctcctgAtccagaggaagaggaggagg	14	13	0	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:111784579A>T	ENST00000304298.3	+	2	1097	c.509A>T	c.(508-510)gAt>gTt	p.D170V	CRYAB_ENST00000531198.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.D170V|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000533475.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533971.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	170					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCGCCTCCTGATCCAGAGGAA	0.567																																																	0								ENSG00000170276						34	34	34					11																	111784579		2201	4297	6498	HSPB2	SO:0001583	missense	0			-	Uniprot_gn	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.509A>T	11.37:g.111784579A>T	ENSP00000302476:p.Asp170Val	Somatic	0	30	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6I9U7	Missense_Mutation	SNP							pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.D170V	ENST00000304298.3	37	c.509	CCDS8352.1	11	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992357	0.35131	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.90676	-2.71;-2.71	5.37	5.37	0.77165	.	0.147852	0.44688	D	0.000421	D	0.89076	0.6612	N	0.14661	0.345	0.54753	D	0.999987	D	0.64830	0.994	D	0.65684	0.937	D	0.87548	0.2463	10	0.27785	T	0.31	-27.381	12.056	0.53536	1.0:0.0:0.0:0.0	.	170	Q16082	HSPB2_HUMAN	V	170	ENSP00000302476:D170V;ENSP00000445585:D170V	ENSP00000302476:D170V	D	+	2	0	HSPB2	111289789	0.978000	0.34361	0.999000	0.59377	0.992000	0.81027	2.545000	0.45769	2.169000	0.68431	0.528000	0.53228	GAT	-	NULL		0.567	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB2	protein_coding	OTTHUMT00000391669.1	A		-		111784579	1	no_errors	ENST00000304298	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111784579	A	T	111784579	3	4	95	1	0	0	0	0	1	0	0	0	7422	333	12	5	515	5	HSPB2	11	111784579	Missense_Mutation	SNP	A	TCGA-DX-A8BH-01A-11D-A37C-09	19252227	111784579	23221937	52	5404											
ARCN1	372	genome.wustl.edu	37	chr11	118454689	118454689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatcacagagaccatcAttgaaactgataaaccaaaa	5	10	2	4			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:118454689A>G	ENST00000264028.4	+	4	708	c.613A>G	c.(613-615)Att>Gtt	p.I205V	ARCN1_ENST00000392859.3_Missense_Mutation_p.I117V|ARCN1_ENST00000359415.4_Missense_Mutation_p.I246V|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	205					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGACCATCATTGAAACTGA	0.468																																																	0								ENSG00000095139						96	90	92					11																	118454689		2200	4295	6495	ARCN1	SO:0001583	missense	0			-	HGNC	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.613A>G	11.37:g.118454689A>G	ENSP00000264028:p.Ile205Val	Somatic	0	12	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP							pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.I205V	ENST00000264028.4	37	c.613	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597785	0.28445	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.49720	0.77;0.77;0.77	5.89	5.89	0.94794	.	0.096179	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.51767	D	0.999935	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15694	-1.0428	10	0.10636	T	0.68	-6.3768	15.9724	0.80031	1.0:0.0:0.0:0.0	.	117;246;205	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	117;246;205	ENSP00000376599:I117V;ENSP00000352385:I246V;ENSP00000264028:I205V	ENSP00000264028:I205V	I	+	1	0	ARCN1	117959899	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.520000	0.60524	2.257000	0.74773	0.460000	0.39030	ATT	-	NULL		0.468	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	protein_coding	OTTHUMT00000389278.1	A		-		118454689	1	no_errors	ENST00000264028	ensembl	human	known	74_37	missense	SNP	1.000	G	G	118454689	A	G	118454689	3	3	95	1	0	0	0	0	1	0	0	0	842	217	8	5	627	5	ARCN1	11	118454689	Missense_Mutation	SNP	A	TCGA-DX-A8BH-01A-11D-A37C-09	6670110	118454689	16551827	53	5405											
ST14	6768	genome.wustl.edu	37	chr11	130060353	130060353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctcctgcgcagacagCtgcagctttggcctgcacgc	11	15	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:130060353C>T	ENST00000278742.5	+	7	1057	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	213					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCGCAGACAGCTGCAGCTTTG	0.697																																																	0								ENSG00000149418						29	35	33					11																	130060353		2189	4277	6466	ST14	SO:0001819	synonymous_variant	0			-	HGNC	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.639C>T	11.37:g.130060353C>T		Somatic	0	69	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	95	15.93	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP							pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.S213	ENST00000278742.5	37	c.639	CCDS8487.1	11																																																																																			-	pirsf_Peptidase_S1A_matripase,superfamily_CUB_dom		0.697	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	protein_coding	OTTHUMT00000386119.1	C		-		130060353	1	no_errors	ENST00000278742	ensembl	human	known	74_37	silent	SNP	1.000	T	T	130060353	C	T	130060353	2	4	95	1	0	0	0	0	0	0	0	1	15218	796	28	2		2	ST14	11	130060353	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	11605664	130060353	4946163	54	5406											
NTN4	59277	genome.wustl.edu	37	chr12	96059706	96059706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttttaatcttcacattgaCctcaacatgagtacctttat	3	10	3	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:96059706C>G	ENST00000343702.4	-	9	2078	c.1630G>C	c.(1630-1632)Gtc>Ctc	p.V544L	NTN4_ENST00000553059.1_Missense_Mutation_p.V521L|NTN4_ENST00000344911.4_Missense_Mutation_p.V507L|NTN4_ENST00000538383.1_Missense_Mutation_p.V507L|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	544	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCACATTGACCTCAACATGA	0.338																																																	0								ENSG00000074527						106	98	101					12																	96059706		2203	4300	6503	NTN4	SO:0001583	missense	0			-	HGNC	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1630G>C	12.37:g.96059706C>G	ENSP00000340998:p.Val544Leu	Somatic	0	26	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.V544L	ENST00000343702.4	37	c.1630	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530119	0.85706	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.91	5.91	0.95273	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.55213	1.73	0.54753	D	0.999981	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.889	T	0.02705	-1.1121	10	0.33141	T	0.24	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	521;544	Q9HB63-2;Q9HB63	.;NET4_HUMAN	L	544;507;507;521	ENSP00000340998:V544L;ENSP00000339436:V507L;ENSP00000444432:V507L;ENSP00000447292:V521L	ENSP00000340998:V544L	V	-	1	0	NTN4	94583837	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.070000	0.76763	2.802000	0.96397	0.655000	0.94253	GTC	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.338	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	protein_coding	OTTHUMT00000408372.1	C	NM_021229	-		96059706	-1	no_errors	ENST00000343702	ensembl	human	known	74_37	missense	SNP	1.000	G	G	96059706	C	G	96059706	3	3	95	1	0	0	0	0	1	0	0	0	10704	507	18	4	264	4	NTN4	12	96059706	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09		96059706	37792189	55	5407											
HPD	3242	genome.wustl.edu	37	chr12	122284821	122284821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggaccccagcgccccCgttatagtccacatattcct	8	16	0	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:122284821C>T	ENST00000289004.4	-	11	813	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.G221R	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	260					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CCAGCGCCCCCGTTATAGTCC	0.562																																																	0								ENSG00000158104						86	76	79					12																	122284821		2203	4300	6503	HPD	SO:0001583	missense	0			-	HGNC	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.778G>A	12.37:g.122284821C>T	ENSP00000289004:p.Gly260Arg	Somatic	0	20	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP							pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.G260R	ENST00000289004.4	37	c.778	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108492	0.56291	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.70045	-0.45;-0.45	5.55	5.55	0.83447	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.64630	1.985	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.76049	-0.3101	10	0.42905	T	0.14	-41.0596	19.5083	0.95130	0.0:1.0:0.0:0.0	.	260	P32754	HPPD_HUMAN	R	260;257;221	ENSP00000289004:G260R;ENSP00000441677:G221R	ENSP00000289004:G260R	G	-	1	0	HPD	120769204	1.000000	0.71417	0.923000	0.36655	0.163000	0.22366	7.466000	0.80914	2.600000	0.87896	0.655000	0.94253	GGG	-	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase		0.562	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	protein_coding	OTTHUMT00000402184.1	C	NM_002150	-		122284821	-1	no_errors	ENST00000289004	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122284821	C	T	122284821	3	4	95	1	0	0	0	0	1	0	0	0	7334	652	23	1	419	1	HPD	12	122284821	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	26225115	122284821	11567074	56	5408											
LRRC16B	90668	genome.wustl.edu	37	chr14	24538169	24538169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccaagaggagcccgaaGtccaaggtctgccaccctgg	12	13	1	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:24538169G>A	ENST00000342740.5	+	38	4130	c.3976G>A	c.(3976-3978)Gtc>Atc	p.V1326I	CPNE6_ENST00000537691.1_5'Flank|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.V379I	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1326						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGAGCCCGAAGTCCAAGGTCT	0.607																																																	0								ENSG00000186648						10	8	9					14																	24538169		2162	4225	6387	LRRC16B	SO:0001583	missense	0			-	HGNC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3976G>A	14.37:g.24538169G>A	ENSP00000340467:p.Val1326Ile	Somatic	0	15	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	Q8TEF7|Q96HS9	Missense_Mutation	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V1326I	ENST00000342740.5	37	c.3976	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024651	0.07589	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.59502	0.26;0.26	5.04	2.19	0.27852	.	0.566297	0.14734	N	0.301587	T	0.25827	0.0629	N	0.03608	-0.345	0.19945	N	0.999946	B;B	0.25486	0.0;0.127	B;B	0.25291	0.001;0.059	T	0.29941	-0.9995	10	0.02654	T	1	-20.2507	7.143	0.25566	0.2842:0.0:0.7158:0.0	.	379;1326	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	I	1326;379	ENSP00000340467:V1326I;ENSP00000334701:V379I	ENSP00000334701:V379I	V	+	1	0	LRRC16B	23608009	0.995000	0.38212	0.775000	0.31657	0.949000	0.60115	1.261000	0.32980	0.721000	0.32231	0.561000	0.74099	GTC	-	NULL		0.607	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	protein_coding	OTTHUMT00000416527.1	G	NM_138360	-		24538169	1	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	SNP	0.939	A	A	24538169	G	A	24538169	3	1	95	1	0	0	0	0	1	0	0	0	8974	1029	36	2	4126	2	LRRC16B	14	24538169	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		24538169	82811371	57	5409											
ATG2B	55102	genome.wustl.edu	37	chr14	96792222	96792222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgacaatttgcaggactaTgtgaatcatctagaaacact	7	9	2	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:96792222T>G	ENST00000359933.4	-	15	3094	c.2201A>C	c.(2200-2202)cAt>cCt	p.H734P	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	734					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCAGGACTATGTGAATCATC	0.353																																																	0								ENSG00000066739						88	79	82					14																	96792222		1929	4129	6058	ATG2B	SO:0001583	missense	0			-	HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2201A>C	14.37:g.96792222T>G	ENSP00000353010:p.His734Pro	Somatic	0	23	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.H734P	ENST00000359933.4	37	c.2201	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495097	0.26774	.	.	ENSG00000066739	ENST00000359933	T	0.09350	2.99	5.6	5.6	0.85130	.	0.000000	0.38326	U	0.001723	T	0.07773	0.0195	L	0.27053	0.805	0.44447	D	0.99737	P	0.34909	0.475	B	0.34722	0.188	T	0.38757	-0.9646	10	0.27082	T	0.32	.	8.266	0.31815	0.0:0.1478:0.0:0.8522	.	734	Q96BY7	ATG2B_HUMAN	P	734	ENSP00000353010:H734P	ENSP00000353010:H734P	H	-	2	0	ATG2B	95861975	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	2.687000	0.46976	2.143000	0.66587	0.460000	0.39030	CAT	-	NULL		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	T	NM_018036	-		96792222	-1	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	SNP	1.000	G	G	96792222	T	G	96792222	3	3	95	1	0	0	0	0	1	0	0	0	1094	1464	51	5	4147	5	ATG2B	14	96792222	Missense_Mutation	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09	72254053	96792222	10557318	58	5410											
A2BP1	54715	genome.wustl.edu	37	chr16	7760642	7760642	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaatgcttttgcacctttGactgatgccaagactaggag	10	9	0	4			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:7760642G>T	ENST00000550418.1	+	16	2077	c.1089G>T	c.(1087-1089)ttG>ttT	p.L363F	RBFOX1_ENST00000553186.1_Missense_Mutation_p.L336F|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L368F|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L363F|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L384F|RBFOX1_ENST00000547372.1_3'UTR	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	363					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGCACCTTTGACTGATGCCA	0.408																																					Ovarian(157;934 2567 15163 39509)												0								ENSG00000078328						227	200	209					16																	7760642		2197	4300	6497	RBFOX1	SO:0001583	missense	0			-	HGNC	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1089G>T	16.37:g.7760642G>T	ENSP00000450031:p.Leu363Phe	Somatic	0	45	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	56	16.42	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP							pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.L384F	ENST00000550418.1	37	c.1152	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801196	0.31869	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T	0.34472	1.36;1.65;1.36;1.73;1.36	5.95	5.95	0.96441	.	0.155125	0.44688	D	0.000434	T	0.22551	0.0544	N	0.14661	0.345	0.52501	D	0.999955	B;B;P;P	0.41265	0.003;0.008;0.662;0.744	B;B;B;B	0.39258	0.007;0.007;0.295;0.212	T	0.05289	-1.0894	10	0.10111	T	0.7	-6.9584	15.8271	0.78718	0.0:0.1351:0.8649:0.0	.	357;384;336;363	F8WAC5;Q9NWB1-2;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	F	363;336;363;384;357;368	ENSP00000450031:L363F;ENSP00000447753:L336F;ENSP00000447717:L363F;ENSP00000309117:L384F;ENSP00000344196:L368F	ENSP00000309117:L384F	L	+	3	2	RBFOX1	7700643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.540000	0.73861	2.831000	0.97527	0.609000	0.83330	TTG	-	pirsf_RNA-bd_Fox-1		0.408	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	protein_coding	OTTHUMT00000409492.2	G	NM_145891	-		7760642	1	no_errors	ENST00000311745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7760642	G	T	7760642	3	4	95	1	0	0	0	0	1	0	0	0	3	1281	45	3	1334	3	A2BP1	16	7760642	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		7760642	82594111	59	5411											
FBRS	64319	genome.wustl.edu	37	chr16	30680597	30680598	+	Frame_Shift_Ins	INS	-	-	T													cccagggccttcacctgctgINStttgagaggccccggccgcc							TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:30680597_30680598insT	ENST00000287468.5	+	12	1277_1278	c.1014_1015insT	c.(1015-1017)tttfs	p.F339fs	FBRS_ENST00000395073.2_Frame_Shift_Ins_p.F251fs|FBRS_ENST00000356166.6_Frame_Shift_Ins_p.F859fs|FBRS_ENST00000568722.1_Frame_Shift_Ins_p.F251fs	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	339										ovary(1)	1			Colorectal(24;0.103)			TTCACCTGCTGTTTGAGAGGCC	0.733																																																	0								ENSG00000156860																																			FBRS	SO:0001589	frameshift_variant	0				HGNC	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1017dupT	16.37:g.30680600_30680600dupT	ENSP00000287468:p.Phe339fs	Somatic	0	36	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B4DP86|Q96CI9|Q9H9X4	Frame_Shift_Ins	INS							prints_AUTS2	p.E859fs	ENST00000287468.5	37	c.2574_2575		16																																																																																			-	NULL		0.733	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	protein_coding		-	NM_022452			30680598	1	no_errors	ENST00000356166	ensembl	human	known	74_37	frame_shift_ins	INS	0.995:0.999	T	T	30680598	-	T	30680597	7	5	95	1	0	1	1	0	0	0	0	0	5709	1364	48	0	1056	0	FBRS	16	30680597	Frame_Shift_Ins	INS	-	TCGA-DX-A8BH-01A-11D-A37C-09	22919955	30680597	59674156	60	5412											
COX6A2	1339	genome.wustl.edu	37	chr16	31439619	31439619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgctggccaagccccGggtcaggggcctcagaggca	17	14	2	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:31439619G>A	ENST00000287490.4	-	1	130	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_005205.3	NP_005196.1	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	10					generation of precursor metabolites and energy (GO:0006091)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(2)|lung(1)	5						GCCAAGCCCCGGGTCAGGGGC	0.692																																																	0								ENSG00000156885						16	17	17					16																	31439619		2190	4297	6487	COX6A2	SO:0001583	missense	0			-	HGNC	U66875, M83308	CCDS10712.1	16p11.12	2011-07-04			ENSG00000156885	ENSG00000156885	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2279	protein-coding gene	gene with protein product		602009				1327966, 9177785	Standard	NM_005205		Approved		uc002ebx.2	Q02221	OTTHUMG00000132463	ENST00000287490.4:c.28C>T	16.37:g.31439619G>A	ENSP00000287490:p.Arg10Trp	Somatic	0	60	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	O00761|Q6GTW6	Missense_Mutation	SNP							pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a	p.R10W	ENST00000287490.4	37	c.28	CCDS10712.1	16	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821094	0.71028	.	.	ENSG00000156885	ENST00000287490	.	.	.	4.49	-0.346	0.12620	.	0.361143	0.27004	N	0.021405	T	0.63414	0.2509	.	.	.	0.26538	N	0.974135	D	0.89917	1.0	D	0.87578	0.998	T	0.57963	-0.7720	8	0.87932	D	0	-10.7204	10.9807	0.47492	0.0:0.0:0.3429:0.6571	.	10	Q02221	CX6A2_HUMAN	W	10	.	ENSP00000287490:R10W	R	-	1	2	COX6A2	31347120	0.001000	0.12720	0.445000	0.26908	0.976000	0.68499	-0.614000	0.05604	0.181000	0.19994	0.563000	0.77884	CGG	-	pirsf_Cyt_c_oxidase_su6a		0.692	COX6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6A2	protein_coding	OTTHUMT00000255626.2	G	NM_005205	-		31439619	-1	no_errors	ENST00000287490	ensembl	human	known	74_37	missense	SNP	0.426	A	A	31439619	G	A	31439619	3	1	95	1	0	0	0	0	1	0	0	0	3777	1115	39	1	277	1	COX6A2	16	31439619	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	759022	31439619	58915134	61	5413											
TP53	7157	genome.wustl.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	8	18	3	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)						ENSG00000141510						48	46	47					17																	7578370		2203	4300	6503	TP53	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;	-	HGNC	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.559+1G>A	17.37:g.7578370C>T		Somatic	0	21	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	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.559+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.	-	-		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578370	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	7578370	C	T	7578370	5	4	95	1	0	0	0	0	0	0	1	0	16388	521	18	2	738	2	TP53	17	7578370	Splice_Site	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09		7578370	73616840	62	5414											
UNC13D	201294	genome.wustl.edu	37	chr17	73836886	73836886	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctccccaagcttctgtcGgacagactccacagtgtcca	9	15	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:73836886G>T	ENST00000207549.4	-	8	1019	c.640C>A	c.(640-642)Cga>Aga	p.R214R	UNC13D_ENST00000412096.2_Silent_p.R214R|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	214	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTTCTGTCGGACAGACTCC	0.602									Familial Hemophagocytic Lymphohistiocytosis																																								0			GRCh37	CM042797	UNC13D	M		ENSG00000092929						137	131	133					17																	73836886		2203	4300	6503	UNC13D	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.640C>A	17.37:g.73836886G>T		Somatic	0	36	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B4DWG9|Q9H7K5	Silent	SNP							pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R214	ENST00000207549.4	37	c.640	CCDS11730.1	17																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.602	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	G	XM_113950	-		73836886	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	silent	SNP	0.962	T	T	73836886	G	T	73836886	2	4	95	1	0	0	0	0	0	0	0	1	16994	1124	39	3		3	UNC13D	17	73836886	Silent	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	66258516	73836886	7358324	63	5415											
DNAH17	8632	genome.wustl.edu	37	chr17	76506478	76506478	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcctaccttttccatgccCgactccttcacggccttgtc	7	18	1	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:76506478C>A	ENST00000585328.1	-	27	4339	c.4215G>T	c.(4213-4215)tcG>tcT	p.S1405S	DNAH17_ENST00000389840.5_Silent_p.S1404S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1404	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTCCATGCCCGACTCCTTCA	0.582																																																	0								ENSG00000187775						174	176	176					17																	76506478		2111	4232	6343	DNAH17	SO:0001819	synonymous_variant	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4215G>T	17.37:g.76506478C>A		Somatic	0	27	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.S1404	ENST00000585328.1	37	c.4212		17																																																																																			-	pfam_Dynein_heavy_dom-2		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	C	NM_173628	-		76506478	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	silent	SNP	0.013	A	A	76506478	C	A	76506478	2	1	95	1	0	0	0	0	0	0	0	1	4603	639	23	3		3	DNAH17	17	76506478	Silent	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	2669592	76506478	4688732	64	5416											
DCC	1630	genome.wustl.edu	37	chr18	50450188	50450188	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctatcctccaccaaGttttacctggttacgaggcg	9	12	1	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:50450188G>C	ENST00000442544.2	+	4	1425	c.809G>C	c.(808-810)aGt>aCt	p.S270T	DCC_ENST00000412726.1_Missense_Mutation_p.S118T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	270	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTCCACCAAGTTTTACCTGG	0.393																																																	0								ENSG00000187323						141	115	124					18																	50450188		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.809G>C	18.37:g.50450188G>C	ENSP00000389140:p.Ser270Thr	Somatic	0	33	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S270T	ENST00000442544.2	37	c.809	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422310	0.25639	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.68181	-0.31;-0.31	5.74	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.42821	D	0.000650	T	0.39517	0.1081	N	0.12920	0.275	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.31668	-0.9935	10	0.02654	T	1	.	5.0138	0.14326	0.0795:0.1455:0.6249:0.1502	.	118;270	E7EQM8;P43146	.;DCC_HUMAN	T	270;203;118	ENSP00000389140:S270T;ENSP00000397322:S118T	ENSP00000304146:S203T	S	+	2	0	DCC	48704186	0.993000	0.37304	0.991000	0.47740	0.910000	0.53928	0.601000	0.24119	1.437000	0.47472	0.650000	0.86243	AGT	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.393	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50450188	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	0.994	C	C	50450188	G	C	50450188	3	2	95	1	0	0	0	0	1	0	0	0	4284	1029	36	4	823	4	DCC	18	50450188	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		50450188	27627060	65	5417											
MED16	10025	genome.wustl.edu	37	chr19	880053	880053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggccggctcatccacagGcctcggggccgcggagctgt	15	15	1	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:880053G>A	ENST00000589119.1	-	7	1236	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.P413S|MED16_ENST00000325464.1_Missense_Mutation_p.P413S|MED16_ENST00000312090.6_Missense_Mutation_p.P413S|MED16_ENST00000395808.3_Missense_Mutation_p.P413S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	413					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		TCATCCACAGGCCTCGGGGCC	0.682																																																	0								ENSG00000175221						16	17	17					19																	880053		2165	4273	6438	MED16	SO:0001583	missense	0			-	HGNC	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1237C>T	19.37:g.880053G>A	ENSP00000464810:p.Pro413Ser	Somatic	0	21	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP							pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P413S	ENST00000589119.1	37	c.1237	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	G	1.468	-0.560714	0.03939	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.24	0.0805	0.14421	WD40 repeat-like-containing domain (1);	0.442312	0.23676	N	0.045679	T	0.15696	0.0378	N	0.08118	0	0.35918	D	0.831601	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.12837	0.001;0.001;0.004;0.002;0.008	T	0.15925	-1.0420	10	0.09843	T	0.71	-0.328	4.3167	0.10997	0.3681:0.1846:0.4473:0.0	.	413;413;413;413;413	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	S	413;413;413;413;413;269;174;172;413	ENSP00000325612:P413S;ENSP00000308528:P413S;ENSP00000379153:P413S;ENSP00000269814:P413S	ENSP00000269814:P413S	P	-	1	0	MED16	831053	0.998000	0.40836	0.048000	0.18961	0.055000	0.15305	0.806000	0.27126	0.069000	0.16605	0.561000	0.74099	CCT	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom		0.682	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	protein_coding	OTTHUMT00000457902.3	G	NM_005481	-		880053	-1	no_errors	ENST00000325464	ensembl	human	known	74_37	missense	SNP	0.766	A	A	880053	G	A	880053	3	1	95	1	0	0	0	0	1	0	0	0	9436	1203	42	2	1432	2	MED16	19	880053	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		880053	58248930	66	5418											
VAV1	7409	genome.wustl.edu	37	chr19	6833926	6833926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctccttccaggacaaacTacatcgcagggctcaggaca	8	13	2	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:6833926T>A	ENST00000602142.1	+	19	1821	c.1739T>A	c.(1738-1740)cTa>cAa	p.L580Q	VAV1_ENST00000596764.1_Missense_Mutation_p.L548Q|VAV1_ENST00000539284.1_Missense_Mutation_p.L483Q|VAV1_ENST00000599806.1_Missense_Mutation_p.L525Q|VAV1_ENST00000304076.2_Missense_Mutation_p.L580Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	580					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGACAAACTACATCGCAGG	0.537																																																	0								ENSG00000141968						98	102	101					19																	6833926		2203	4300	6503	VAV1	SO:0001583	missense	0			-	HGNC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1739T>A	19.37:g.6833926T>A	ENSP00000472929:p.Leu580Gln	Somatic	0	54	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	93	8.74	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.L580Q	ENST00000602142.1	37	c.1739	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	5.722	0.317727	0.10845	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.76316	-0.04;-1.01	3.95	0.497	0.16902	.	2.234620	0.01848	N	0.035735	T	0.60366	0.2263	N	0.14661	0.345	0.28894	N	0.893695	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.48456	-0.9034	10	0.11794	T	0.64	.	5.9989	0.19509	0.0:0.5582:0.0:0.4418	.	483;580;525;580	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	580;483	ENSP00000302269:L580Q;ENSP00000443242:L483Q	ENSP00000302269:L580Q	L	+	2	0	VAV1	6784926	0.000000	0.05858	0.711000	0.30485	0.520000	0.34377	-1.015000	0.03637	-0.118000	0.11851	-0.415000	0.06103	CTA	-	NULL		0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	protein_coding	OTTHUMT00000458475.1	T		-		6833926	1	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	SNP	0.680	A	A	6833926	T	A	6833926	3	1	95	1	0	0	0	0	1	0	0	0	17138	1522	53	5	1813	5	VAV1	19	6833926	Missense_Mutation	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09	5953873	6833926	52295057	67	5419											
LILRB1	10859	genome.wustl.edu	37	chr19	55146164	55146164	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctcctcctcctcctccTcctcttcctcatcctccgac	2	23	2	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:55146164T>G	ENST00000396331.1	+	11	1790	c.1433T>G	c.(1432-1434)cTc>cGc	p.L478R	LILRB1_ENST00000396327.3_Missense_Mutation_p.L479R|LILRB1_ENST00000448689.1_Missense_Mutation_p.L478R|LILRB1_ENST00000434867.2_Missense_Mutation_p.L478R|LILRB1_ENST00000418536.2_Missense_Mutation_p.L462R|LILRB1_ENST00000396321.2_Missense_Mutation_p.L478R|LILRB1_ENST00000396332.4_Missense_Mutation_p.L478R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.L462R|LILRB1_ENST00000396315.1_Missense_Mutation_p.L479R|LILRB1_ENST00000427581.2_Missense_Mutation_p.L528R|LILRB1_ENST00000324602.7_Missense_Mutation_p.L479R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	478					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ctcctcctcctcctcttcctc	0.612										HNSCC(37;0.09)																																							0								ENSG00000104972						133	113	120					19																	55146164		2203	4300	6503	LILRB1	SO:0001583	missense	0			-	HGNC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1433T>G	19.37:g.55146164T>G	ENSP00000379622:p.Leu478Arg	Somatic	0	36	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L479R	ENST00000396331.1	37	c.1436	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582818	0.28268	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00580	6.53;6.74;6.43;6.53;6.56;6.56;6.53;6.53;6.66;6.74;6.56	0.822	0.822	0.18806	.	3.215830	0.01930	N	0.041152	T	0.02342	0.0072	M	0.82323	2.585	0.09310	N	1	B;B;P;B;D;D	0.60160	0.102;0.049;0.923;0.022;0.973;0.987	B;B;P;B;P;P	0.59825	0.052;0.027;0.504;0.032;0.864;0.794	T	0.38023	-0.9680	10	0.87932	D	0	.	3.8571	0.08981	0.0:0.0:0.0:1.0	.	462;478;479;478;479;478	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	R	478;462;478;478;479;479;478;478;528;462;479	ENSP00000379614:L478R;ENSP00000391514:L462R;ENSP00000409968:L478R;ENSP00000379622:L478R;ENSP00000379618:L479R;ENSP00000315997:L479R;ENSP00000405243:L478R;ENSP00000379623:L478R;ENSP00000395004:L528R;ENSP00000379610:L462R;ENSP00000379608:L479R	ENSP00000315997:L479R	L	+	2	0	LILRB1	59837976	0.002000	0.14202	0.010000	0.14722	0.039000	0.13416	-0.091000	0.11146	0.598000	0.29829	0.155000	0.16302	CTC	-	NULL		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	protein_coding	OTTHUMT00000140796.4	T		-		55146164	1	no_errors	ENST00000324602	ensembl	human	known	74_37	missense	SNP	0.012	G	G	55146164	T	G	55146164	3	3	95	1	0	0	0	0	1	0	0	0	8792	1551	54	5	1470	5	LILRB1	19	55146164	Missense_Mutation	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09	48312238	55146164	3982819	68	5420											
IFT52	51098	genome.wustl.edu	37	chr20	42271199	42271199	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaactaccaaaggaccaaCaggatgccaaacatatcctt	6	11	0	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:42271199C>T	ENST00000373030.3	+	13	1331	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	IFT52_ENST00000373039.4_Nonsense_Mutation_p.Q401*|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	401					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGGACCAACAGGATGCCAA	0.448																																																	0								ENSG00000101052						160	140	147					20																	42271199		2203	4300	6503	IFT52	SO:0001587	stop_gained	0			-	HGNC	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1201C>T	20.37:g.42271199C>T	ENSP00000362121:p.Gln401*	Somatic	0	35	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Nonsense_Mutation	SNP							pfam_ABC_transp_unknown	p.Q401*	ENST00000373030.3	37	c.1201	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.231442	0.98150	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.36	5.36	0.76844	.	0.240402	0.41294	D	0.000912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-15.837	18.2537	0.90012	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000362121:Q401X	Q	+	1	0	IFT52	41704613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.397000	0.44477	2.682000	0.91365	0.650000	0.86243	CAG	-	NULL		0.448	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	protein_coding	OTTHUMT00000079317.1	C	NM_016004	-		42271199	1	no_errors	ENST00000373030	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	42271199	C	T	42271199	4	4	95	1	0	0	0	0	0	1	0	0	7563	479	17	2	1247	2	IFT52	20	42271199	Nonsense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09		42271199	20754321	69	5421											
BHLHE23	128408	genome.wustl.edu	37	chr20	61637484	61637484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagggcagggccccagggCggcgcctgcggagaaggggc	21	12	1	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:61637484C>T	ENST00000370346.2	-	1	903	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						GGCCCCAGGGCGGCGCCTGCG	0.736																																																	0								ENSG00000125533						4	5	4					20																	61637484		2008	3988	5996	BHLHE23	SO:0001583	missense	0			-	HGNC	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"Basic helix-loop-helix proteins"	16093	protein-coding gene	gene with protein product		609331	"basic helix-loop-helix domain containing, class B, 4"	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.595G>A	20.37:g.61637484C>T	ENSP00000359371:p.Ala199Thr	Somatic	0	11	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	B2RP69	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A199T	ENST00000370346.2	37	c.595	CCDS33507.1	20	.	.	.	.	.	.	.	.	.	.	C	11.75	1.733205	0.30684	.	.	ENSG00000125533	ENST00000370346	D	0.97529	-4.42	3.5	2.52	0.30459	.	0.000000	0.85682	U	0.000000	D	0.91938	0.7447	L	0.45137	1.4	0.58432	D	0.999991	P	0.45902	0.868	B	0.25506	0.061	D	0.88125	0.2834	10	0.40728	T	0.16	-2.51	11.5405	0.50663	0.0:0.817:0.183:0.0	.	199	Q8NDY6	BHE23_HUMAN	T	199	ENSP00000359371:A199T	ENSP00000359371:A199T	A	-	1	0	BHLHE23	61107929	0.101000	0.21875	0.228000	0.23943	0.084000	0.17831	0.475000	0.22164	0.414000	0.25790	0.491000	0.48974	GCC	-	NULL		0.736	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE23	protein_coding	OTTHUMT00000080095.2	C	NM_080606	-		61637484	-1	no_errors	ENST00000370346	ensembl	human	known	74_37	missense	SNP	0.994	T	T	61637484	C	T	61637484	3	4	95	1	0	0	0	0	1	0	0	0	1422	768	27	1	86	1	BHLHE23	20	61637484	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	19366285	61637484	1388036	70	5422											
KCNQ2	3785	genome.wustl.edu	37	chr20	62055553	62055553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagacggctccggcgggggGtccttccttcaaacagaagc	15	12	1	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:62055553G>T	ENST00000359125.2	-	11	1398	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	KCNQ2_ENST00000357249.2_Missense_Mutation_p.D408E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D398E|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D398E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D398E|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D408E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D408E	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	408					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)			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)	CCGGCGGGGGGTCCTTCCTTC	0.647																																																	0								ENSG00000075043						29	29	29					20																	62055553		2128	4192	6320	KCNQ2	SO:0001583	missense	0			-	HGNC	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.1224C>A	20.37:g.62055553G>T	ENSP00000352035:p.Asp408Glu	Somatic	0	47	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D398E	ENST00000359125.2	37	c.1194	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.721570	0.00700	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221	D;D;D;D;D;D;D;D;D;D;D	0.99032	-5.05;-5.23;-5.26;-4.98;-5.21;-5.1;-5.09;-5.17;-4.99;-5.13;-5.35	4.5	0.331	0.15933	.	0.330064	0.27122	N	0.020834	D	0.93232	0.7844	N	0.08118	0	0.24838	N	0.992489	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	D	0.87550	0.2464	10	0.13108	T	0.6	.	4.3277	0.11048	0.1304:0.6112:0.1281:0.1302	.	408;398;408;408;408	B4DEP4;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;KCNQ2_HUMAN	E	408;408;408;398;408;408;398;398;398;398;398	ENSP00000349789:D408E;ENSP00000352035:D408E;ENSP00000359246:D408E;ENSP00000346601:D398E;ENSP00000352718:D408E;ENSP00000399612:D408E;ENSP00000353668:D398E;ENSP00000339611:D398E;ENSP00000359244:D398E;ENSP00000359242:D398E;ENSP00000359241:D398E	ENSP00000339611:D398E	D	-	3	2	KCNQ2	61525997	0.838000	0.29461	0.995000	0.50966	0.073000	0.16967	-0.134000	0.10436	0.350000	0.24002	-1.313000	0.01306	GAC	-	NULL		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	G	NM_172109	-		62055553	-1	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	SNP	0.994	T	T	62055553	G	T	62055553	3	4	95	1	0	0	0	0	1	0	0	0	8085	1252	44	3	1422	3	KCNQ2	20	62055553	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	418069	62055553	969967	71	5423											
DSCAM	1826	genome.wustl.edu	37	chr21	41385110	41385110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccacggcccccggctGccacgactgtccttctctcg	11	18	1	0			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:41385110G>T	ENST00000400454.1	-	33	6367	c.5890C>A	c.(5890-5892)Cag>Aag	p.Q1964K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1964				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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)				GCCCCCGGCTGCCACGACTGT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						25	28	27					21																	41385110		1935	4138	6073	DSCAM	SO:0001583	missense	0			-	HGNC	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.5890C>A	21.37:g.41385110G>T	ENSP00000383303:p.Gln1964Lys	Somatic	0	29	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	O60468	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q1964K	ENST00000400454.1	37	c.5890	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	16.67	3.186549	0.57909	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.26	5.39	5.39	0.77823	.	0.125645	0.56097	D	0.000029	T	0.52517	0.1739	L	0.44542	1.39	0.50813	D	0.999897	B	0.29037	0.231	B	0.24541	0.054	T	0.51180	-0.8738	10	0.46703	T	0.11	.	19.17	0.93574	0.0:0.0:1.0:0.0	.	1964	O60469	DSCAM_HUMAN	K	1964;1698	ENSP00000383303:Q1964K;ENSP00000385342:Q1698K	ENSP00000383303:Q1964K	Q	-	1	0	DSCAM	40306980	1.000000	0.71417	0.997000	0.53966	0.796000	0.44982	9.183000	0.94887	2.521000	0.84997	0.557000	0.71058	CAG	-	NULL		0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	-		41385110	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41385110	G	T	41385110	3	4	95	1	0	0	0	0	1	0	0	0	4770	1328	46	3	152	3	DSCAM	21	41385110	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		41385110	6744785	72	5424											
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46067079	46067079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctgctgcagaccctcctCctctgtgtccctcctctgcc	6	21	2	1			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:46067079C>A	ENST00000334670.8	+	1	749	c.704C>A	c.(703-705)tCc>tAc	p.S235Y	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	235	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						AGACCCTCCTCCTCTGTGTCC	0.652																																																	0								ENSG00000243489						117	127	123					21																	46067079		2203	4300	6503	KRTAP10-11	SO:0001583	missense	0			-	HGNC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.704C>A	21.37:g.46067079C>A	ENSP00000334197:p.Ser235Tyr	Somatic	0	89	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	82	27.43	A2RRF9	Missense_Mutation	SNP							NULL	p.S235Y	ENST00000334670.8	37	c.704	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356639	0.61293	.	.	ENSG00000243489;ENSG00000205439	ENST00000334670;ENST00000546091	T	0.01505	4.82	2.94	2.94	0.34122	.	.	.	.	.	T	0.06962	0.0177	L	0.56199	1.76	0.36195	D	0.850361	D	0.89917	1.0	D	0.74674	0.984	T	0.28554	-1.0040	9	0.87932	D	0	.	12.1689	0.54146	0.0:1.0:0.0:0.0	.	235	P60412	KR10B_HUMAN	Y	235;8	ENSP00000334197:S235Y	ENSP00000334197:S235Y	S	+	2	0	KRTAP12-3;KRTAP10-11	44891507	0.834000	0.29399	0.862000	0.33874	0.903000	0.53119	0.570000	0.23653	1.617000	0.50277	0.456000	0.33151	TCC	-	NULL		0.652	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	protein_coding	OTTHUMT00000128029.1	C	NM_198692	-		46067079	1	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46067079	C	A	46067079	3	1	95	1	0	0	0	0	1	0	0	0	8509	855	30	3	706	3	KRTAP10-11	21	46067079	Missense_Mutation	SNP	C	TCGA-DX-A8BH-01A-11D-A37C-09	4681969	46067079	2062816	73	5425											
C21orf57	54059	genome.wustl.edu	37	chr21	47707039	47707040	+	Splice_Site	INS	-	-	AA													tcttttccatttcatgaggtINSaaaaaaaaaatgttcctctt					rs71318058|rs202070025|rs530846715|rs58271568		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:47707039_47707040insAA	ENST00000329319.3	+	2	608		c.e2+2		YBEY_ENST00000397692.1_Intron|YBEY_ENST00000339195.6_Splice_Site|YBEY_ENST00000397691.1_Splice_Site|YBEY_ENST00000397694.1_Intron|MCM3AP_ENST00000397708.1_5'Flank|YBEY_ENST00000397701.4_Splice_Site|MCM3AP_ENST00000291688.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)						rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTTCATGAGGTAAAAAAAAAAT	0.351																																																	1	Unknown(1)	lung(1)						ENSG00000182362																																			YBEY	SO:0001630	splice_region_variant	0				HGNC	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 57"	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.210+2->AA	21.37:g.47707048_47707049dupAA		Somatic	0	12	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B7WPA9|B7WPF7|D3DSN2	Splice_Site	INS							-	e1+2	ENST00000329319.3	37	c.210+2_210+1	CCDS33591.1	21																																																																																			-	-		0.351	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	protein_coding	OTTHUMT00000207265.1	-	NM_058181		Intron	47707040	1	no_errors	ENST00000329319	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.124	AA	AA	47707040	-	AA	47707039	8	5	95	1	0	1	1	0	0	0	1	0	2130	1652	57	0	214	0	C21orf57	21	47707039	Splice_Site	INS	-	TCGA-DX-A8BH-01A-11D-A37C-09	1639960	47707039	422856	74	5426											
INPP5J	27124	genome.wustl.edu	37	chr22	31522464	31522464	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacagcgacggcgcagacatGatcgccatagggtgaggtgg	17	9	0	3			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr22:31522464G>A	ENST00000331075.5	+	3	1423	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	INPP5J_ENST00000412277.2_Missense_Mutation_p.M391I|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.M91I|INPP5J_ENST00000405300.1_Missense_Mutation_p.M91I|INPP5J_ENST00000404390.3_Missense_Mutation_p.M90I|INPP5J_ENST00000404453.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	458	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGCAGACATGATCGCCATAG	0.667																																																	0								ENSG00000185133						115	121	119					22																	31522464		2143	4235	6378	INPP5J	SO:0001583	missense	0			-	HGNC	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1374G>A	22.37:g.31522464G>A	ENSP00000333262:p.Met458Ile	Somatic	0	39	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.M458I	ENST00000331075.5	37	c.1374		22	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873654	0.51695	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	T;T;D;T;T;T	0.93659	-0.7;-0.7;-3.26;-0.7;-0.7;-0.7	4.8	4.8	0.61643	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91912	0.7439	N	0.11106	0.095	0.58432	D	0.999996	D;B	0.60575	0.988;0.02	D;B	0.74348	0.983;0.022	D	0.88993	0.3416	10	0.11485	T	0.65	.	18.2586	0.90026	0.0:0.0:1.0:0.0	.	458;90	Q15735;Q15735-3	PI5PA_HUMAN;.	I	458;391;23;91;91;90	ENSP00000333262:M458I;ENSP00000392924:M391I;ENSP00000406570:M23I;ENSP00000383150:M91I;ENSP00000384596:M91I;ENSP00000384534:M90I	ENSP00000333262:M458I	M	+	3	0	INPP5J	29852464	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.392000	0.97252	2.395000	0.81488	0.561000	0.74099	ATG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.667	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	protein_coding	OTTHUMT00000321784.1	G	NM_001002837	-		31522464	1	no_errors	ENST00000331075	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31522464	G	A	31522464	3	1	95	1	0	0	0	0	1	0	0	0	7761	1290	45	2	280	2	INPP5J	22	31522464	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09		31522464	19782102	75	5427											
DRG1	4733	genome.wustl.edu	37	chr22	31799118	31799118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaggggtatattctgaGgtggcagcctatgaattcac	13	8	2	2			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr22:31799118G>T	ENST00000331457.4	+	3	431	c.270G>T	c.(268-270)gaG>gaT	p.E90D	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	90	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TATATTCTGAGGTGGCAGCCT	0.488																																																	0								ENSG00000185721						138	121	127					22																	31799118		2203	4300	6503	DRG1	SO:0001583	missense	0			-	HGNC	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"developmentally regulated GTP-binding protein 1"	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.270G>T	22.37:g.31799118G>T	ENSP00000329715:p.Glu90Asp	Somatic	0	39	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP							pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.E90D	ENST00000331457.4	37	c.270	CCDS13897.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024850	0.75390	.	.	ENSG00000185721	ENST00000331457	T	0.18338	2.22	5.06	1.86	0.25419	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.046284	0.85682	D	0.000000	T	0.31167	0.0788	M	0.87547	2.89	0.80722	D	1	P	0.46395	0.877	P	0.51550	0.673	T	0.07083	-1.0791	10	0.72032	D	0.01	-17.1292	5.5395	0.17030	0.4813:0.0:0.5187:0.0	.	90	Q9Y295	DRG1_HUMAN	D	90	ENSP00000329715:E90D	ENSP00000329715:E90D	E	+	3	2	DRG1	30129118	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.879000	0.39618	0.775000	0.33450	0.655000	0.94253	GAG	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom		0.488	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	protein_coding	OTTHUMT00000075680.5	G	NM_004147	-		31799118	1	no_errors	ENST00000331457	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31799118	G	T	31799118	3	4	95	1	0	0	0	0	1	0	0	0	4763	991	35	3	280	3	DRG1	22	31799118	Missense_Mutation	SNP	G	TCGA-DX-A8BH-01A-11D-A37C-09	276654	31799118	19505448	76	5428											
FAM46D	169966	genome.wustl.edu	37	chrX	79699000	79699000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttatgaaagaagacagaTtctccacctgatcaccatga	8	9	2	6			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:79699000T>C	ENST00000308293.5	+	3	1201	c.962T>C	c.(961-963)aTt>aCt	p.I321T	FAM46D_ENST00000538312.1_Missense_Mutation_p.I321T	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	321										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGAAGACAGATTCTCCACCTG	0.403																																																	0								ENSG00000174016						134	112	119					X																	79699000		2203	4299	6502	FAM46D	SO:0001583	missense	0			-	HGNC	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.962T>C	X.37:g.79699000T>C	ENSP00000308575:p.Ile321Thr	Somatic	0	15	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP							pfam_DUF1693	p.I321T	ENST00000308293.5	37	c.962	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.459074	0.00173	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.18174	2.23;2.23	4.35	3.44	0.39384	Domain of unknown function DUF1693 (1);	0.060971	0.64402	N	0.000004	T	0.01976	0.0062	N	0.00017	-2.845	0.29192	N	0.875777	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	10	0.02654	T	1	-3.9343	10.3311	0.43823	0.0:0.8987:0.0:0.1013	.	321	Q8NEK8	FA46D_HUMAN	T	321	ENSP00000443410:I321T;ENSP00000308575:I321T	ENSP00000308575:I321T	I	+	2	0	FAM46D	79585656	1.000000	0.71417	0.795000	0.32087	0.009000	0.06853	5.333000	0.65917	0.827000	0.34685	-0.251000	0.11542	ATT	-	pfam_DUF1693		0.403	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	protein_coding	OTTHUMT00000057338.1	T	NM_152630	-		79699000	1	no_errors	ENST00000308293	ensembl	human	known	74_37	missense	SNP	0.997	C	C	79699000	T	C	79699000	3	2	95	1	0	0	0	0	1	0	0	0	5570	1493	52	5	964	5	FAM46D	23	79699000	Missense_Mutation	SNP	T	TCGA-DX-A8BH-01A-11D-A37C-09		79699000	75571560	77	5429											
DKC1	1736	genome.wustl.edu	37	chrX	154005089	154005091	+	In_Frame_Del	DEL	AAG	AAG	-													tctaggacagtgataccaccAagaagaagaagaagaagaag							TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:154005089_154005091delAAG	ENST00000369550.5	+	15	1702_1704	c.1492_1494delAAG	c.(1492-1494)aagdel	p.K505del	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	505	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATACCACCaagaagaagaaga	0.409									Congenital Dyskeratosis																																								0								ENSG00000130826																																			DKC1	SO:0001651	inframe_deletion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita		HGNC	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1492_1494delAAG	X.37:g.154005098_154005100delAAG	ENSP00000358563:p.Lys505del	Somatic	0	17	0		0.681764657396612				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Del	DEL							pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.K501in_frame_del	ENST00000369550.5	37	c.1492_1494	CCDS14761.1	X																																																																																			-	NULL		0.409	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	protein_coding	OTTHUMT00000061180.5	AAG	NM_001363			154005091	1	no_errors	ENST00000369550	ensembl	human	known	74_37	in_frame_del	DEL	0.284:0.284:0.273	-	-	154005091	AAG	-	154005089	7	5	95	1	0	1	0	1	0	0	0	0	4544	131	5	0	1550	0	DKC1	23	154005089	In_Frame_Del	DEL	AAG	TCGA-DX-A8BH-01A-11D-A37C-09	74306089	154005089	1265471	78	5430											
SLC35E2	728661	genome.wustl.edu	37	chr1	1607527	1607527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacccacaaacagcatcGtcataaggaagttgggtggg	12	9	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:1607527G>A	ENST00000378662.1	-	4	1194	c.434C>T	c.(433-435)aCg>aTg	p.T145M	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.T145M|RP11-345P4.7_ENST00000596308.1_RNA			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	145						integral component of membrane (GO:0016021)				kidney(1)|lung(1)	2						AAACAGCATCGTCATAAGGAA	0.478																																																	0								ENSG00000189339						32	25	27					1																	1607527		688	1445	2133	SLC35E2B	SO:0001583	missense	0			-	HGNC		CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"Solute carriers"	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.434C>T	1.37:g.1607527G>A	ENSP00000367931:p.Thr145Met	Somatic	0	127	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Missense_Mutation	SNP							pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	p.T145M	ENST00000378662.1	37	c.434	CCDS44041.1	1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.169401	0.38315	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	D;D	0.92299	-3.01;-3.01	4.46	0.223	0.15292	Drug/metabolite transporter (1);	0.187954	0.43110	D	0.000618	D	0.84696	0.5529	N	0.22421	0.69	0.31742	N	0.635681	P	0.51351	0.944	P	0.49047	0.599	T	0.80913	-0.1170	10	0.35671	T	0.21	-27.989	2.6496	0.04995	0.4979:0.0:0.2876:0.2144	.	145	P0CK96	S352B_HUMAN	M	145	ENSP00000367931:T145M;ENSP00000234800:T145M	ENSP00000234800:T145M	T	-	2	0	SLC35E2B	1597390	1.000000	0.71417	0.999000	0.59377	0.726000	0.41606	3.074000	0.50065	0.232000	0.21100	0.313000	0.20887	ACG	-	pfam_DMT,pfam_UAA		0.478	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35E2B	protein_coding	OTTHUMT00000171589.1	G		-		1607527	-1	no_errors	ENST00000234800	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1607527	G	A	1607527	3	1	96	1	0	0	0	0	1	0	0	0	14593	1145	40	1	811	1	SLC35E2	1	1607527	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		1607527	247643094	1	5431											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6530806	6530806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttaccatggcgacgaCggcctccttggcgcgcggct	15	14	0	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:6530806C>T	ENST00000400915.3	-	15	1765	c.1699G>A	c.(1699-1701)Gtc>Atc	p.V567I	PLEKHG5_ENST00000377732.1_Missense_Mutation_p.V548I|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.V588I|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.V511I|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.V511I|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.V511I|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.V511I|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.V511I|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.V580I|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.V590I|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.V588I|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.V511I	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	567	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)		ATGGCGACGACGGCCTCCTTG	0.677																																																	0								ENSG00000171680						15	14	14					1																	6530806		2180	4271	6451	PLEKHG5	SO:0001583	missense	0			-	HGNC	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.1699G>A	1.37:g.6530806C>T	ENSP00000383706:p.Val567Ile	Somatic	0	20	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	3	66.67	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V590I	ENST00000400915.3	37	c.1768	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	c	5.640	0.302682	0.10678	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	4.7	-0.304	0.12788	Dbl homology (DH) domain (5);	0.332477	0.29205	N	0.012828	T	0.26304	0.0642	N	0.02379	-0.575	0.21841	N	0.999518	B;B;B;B;B	0.17852	0.001;0.004;0.002;0.02;0.024	B;B;B;B;B	0.09377	0.003;0.003;0.004;0.003;0.004	T	0.13495	-1.0507	10	0.20046	T	0.44	-17.4035	3.925	0.09259	0.0:0.2588:0.2009:0.5403	.	580;511;588;588;567	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	I	588;511;511;567;588;548;511;511;580;511;417;590;511	ENSP00000366977:V588I;ENSP00000344570:V511I;ENSP00000383704:V511I;ENSP00000383706:V567I;ENSP00000366969:V588I;ENSP00000366961:V548I;ENSP00000366957:V511I;ENSP00000366954:V511I;ENSP00000441445:V580I;ENSP00000366966:V511I;ENSP00000439625:V590I;ENSP00000437710:V511I	ENSP00000344570:V511I	V	-	1	0	PLEKHG5	6453393	0.380000	0.25131	0.532000	0.27989	0.688000	0.40055	-0.108000	0.10857	0.051000	0.15978	0.457000	0.33378	GTC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.677	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	C	NM_020631	-		6530806	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	SNP	0.965	T	T	6530806	C	T	6530806	3	4	96	1	0	0	0	0	1	0	0	0	12075	536	19	1	1521	1	PLEKHG5	1	6530806	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	4923279	6530806	242719815	2	5432											
WDR3	10885	genome.wustl.edu	37	chr1	118483844	118483844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcaggattcttgcttGccatgtgagtaccatactta	10	9	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:118483844G>A	ENST00000349139.5	+	8	934	c.887G>A	c.(886-888)tGc>tAc	p.C296Y	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	296						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATTCTTGCTTGCCATGTGAGT	0.413																																																	0								ENSG00000065183						83	80	81					1																	118483844		2203	4300	6503	WDR3	SO:0001583	missense	0			-	HGNC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.887G>A	1.37:g.118483844G>A	ENSP00000308179:p.Cys296Tyr	Somatic	0	67	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Missense_Mutation	SNP							pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.C296Y	ENST00000349139.5	37	c.887	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534757	0.85812	.	.	ENSG00000065183	ENST00000349139	T	0.81078	-1.45	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084385	0.85682	D	0.000000	D	0.87018	0.6073	M	0.81497	2.545	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	D	0.88514	0.3091	10	0.87932	D	0	-10.5827	16.1291	0.81414	0.0:0.0:0.866:0.134	.	296	Q9UNX4	WDR3_HUMAN	Y	296	ENSP00000308179:C296Y	ENSP00000308179:C296Y	C	+	2	0	WDR3	118285367	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.816000	0.75247	2.673000	0.90976	0.655000	0.94253	TGC	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.413	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	protein_coding	OTTHUMT00000033720.2	G	NM_006784	-		118483844	1	no_errors	ENST00000349139	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118483844	G	A	118483844	3	1	96	1	0	0	0	0	1	0	0	0	17292	1319	46	2	913	2	WDR3	1	118483844	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	111953038	118483844	130766777	3	5433											
C1orf77	26097	genome.wustl.edu	37	chr1	153614745	153614745	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaaagcagcgcctgggtaaGagtaacatccaggcacggtt	12	9	0	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:153614745G>C	ENST00000368694.3	+	4	555	c.243G>C	c.(241-243)aaG>aaC	p.K81N	CHTOP_ENST00000368687.1_Missense_Mutation_p.K56N|CHTOP_ENST00000368686.1_Missense_Mutation_p.K42N|CHTOP_ENST00000403433.1_Missense_Mutation_p.K81N|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368690.3_Missense_Mutation_p.K81N	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	81					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GCCTGGGTAAGAGTAACATCC	0.532																																																	0								ENSG00000160679						42	45	44					1																	153614745		2203	4300	6503	CHTOP	SO:0001583	missense	0			-	HGNC		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"small protein rich in arginine and glycine", "Friend of Prmt1"	614206	"chromosome 1 open reading frame 77"	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.243G>C	1.37:g.153614745G>C	ENSP00000357683:p.Lys81Asn	Somatic	0	47	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP							NULL	p.K81N	ENST00000368694.3	37	c.243	CCDS1048.1	1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681209	0.47886	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687;ENST00000368686	D;D;D;D	0.91521	-2.54;-2.86;-2.86;-2.54	5.64	3.65	0.41850	.	0.044223	0.85682	D	0.000000	D	0.82953	0.5149	L	0.38531	1.155	0.54753	D	0.999988	P;P;P	0.41748	0.761;0.712;0.588	P;P;B	0.45538	0.469;0.484;0.291	D	0.85413	0.1138	10	0.87932	D	0	-0.7539	9.672	0.40017	0.1792:0.0:0.8207:0.0	.	81;82;81	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	N	81;81;81;56;42	ENSP00000357683:K81N;ENSP00000385228:K81N;ENSP00000357679:K81N;ENSP00000357676:K56N	ENSP00000357675:K42N	K	+	3	2	CHTOP	151881369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.003000	0.29809	1.625000	0.50366	-0.157000	0.13467	AAG	-	NULL		0.532	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHTOP	protein_coding	OTTHUMT00000089967.1	G	NM_015607	-		153614745	1	no_errors	ENST00000368694	ensembl	human	known	74_37	missense	SNP	1.000	C	C	153614745	G	C	153614745	3	2	96	1	0	0	0	0	1	0	0	0	2061	933	33	4	253	4	C1orf77	1	153614745	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	35130901	153614745	95635876	4	5434											
ASH1L	55870	genome.wustl.edu	37	chr1	155340358	155340358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgggcctcatttcccatgCggtaactgtcaatcaccatc	7	14	3	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:155340358C>T	ENST00000368346.3	-	12	7277	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2208H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2213	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATTTCCCATGCGGTAACTGTC	0.433																																																	0								ENSG00000116539						245	215	225					1																	155340358		2203	4300	6503	ASH1L	SO:0001583	missense	0			-	HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6638G>A	1.37:g.155340358C>T	ENSP00000357330:p.Arg2213His	Somatic	0	43	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP							pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R2213H	ENST00000368346.3	37	c.6638		1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982162	0.53827	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.80738	-1.41;-1.41	4.87	3.96	0.45880	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	L	0.48174	1.505	0.80722	D	1	B;B	0.25719	0.132;0.109	B;B	0.19666	0.026;0.015	T	0.68265	-0.5454	10	0.66056	D	0.02	.	12.8759	0.57989	0.0:0.9208:0.0:0.0792	.	2213;2208	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	2213;2208	ENSP00000357330:R2213H;ENSP00000376204:R2208H	ENSP00000357330:R2213H	R	-	2	0	ASH1L	153606982	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	5.915000	0.69973	1.300000	0.44818	-0.142000	0.14014	CGC	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.433	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	C	NM_018489	-		155340358	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155340358	C	T	155340358	3	4	96	1	0	0	0	0	1	0	0	0	1041	768	27	1	2339	1	ASH1L	1	155340358	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	1725613	155340358	93910263	5	5435											
TNR	7143	genome.wustl.edu	37	chr1	175348838	175348838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaaggctggttgctgtgcGagaaccaactcgcaagttct	12	10	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:175348838G>A	ENST00000367674.2	-	9	2521	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	TNR_ENST00000263525.2_Missense_Mutation_p.R605C			Q92752	TENR_HUMAN	tenascin R	605	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)				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)					GTTGCTGTGCGAGAACCAACT	0.473																																																	0								ENSG00000116147						99	75	83					1																	175348838		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.1813C>T	1.37:g.175348838G>A	ENSP00000356646:p.Arg605Cys	Somatic	0	48	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	9	75.61	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R605C	ENST00000367674.2	37	c.1813	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344307	0.82022	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57752	0.38;0.38	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131490	0.50627	D	0.000103	T	0.65523	0.2699	M	0.70275	2.135	0.54753	D	0.999982	D	0.63880	0.993	P	0.51895	0.683	T	0.68387	-0.5422	10	0.56958	D	0.05	.	19.1795	0.93617	0.0:0.0:1.0:0.0	.	605	Q92752	TENR_HUMAN	C	605	ENSP00000356646:R605C;ENSP00000263525:R605C	ENSP00000263525:R605C	R	-	1	0	TNR	173615461	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.314000	0.72848	2.619000	0.88677	0.655000	0.94253	CGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285	-		175348838	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	A	A	175348838	G	A	175348838	3	1	96	1	0	0	0	0	1	0	0	0	16345	1058	37	1	2323	1	TNR	1	175348838	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	20008480	175348838	73901783	6	5436											
LAMB3	3914	genome.wustl.edu	37	chr1	209800835	209800835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcacactggtcacatttggGacccaccacgttgggcagac	11	13	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:209800835G>T	ENST00000356082.4	-	12	1512	c.1378C>A	c.(1378-1380)Ccc>Acc	p.P460T	LAMB3_ENST00000367030.3_Missense_Mutation_p.P460T|LAMB3_ENST00000391911.1_Missense_Mutation_p.P460T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	460	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|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)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCACATTTGGGACCCACCACG	0.637											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000196878						75	63	67					1																	209800835		2203	4300	6503	LAMB3	SO:0001583	missense	0			-	HGNC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1378C>A	1.37:g.209800835G>T	ENSP00000348384:p.Pro460Thr	Somatic	0	55	0	2185	0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.P460T	ENST00000356082.4	37	c.1378	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825941	0.16749	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61158	0.13;0.13;0.13	5.23	3.34	0.38264	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.333576	0.31495	N	0.007544	T	0.40932	0.1137	L	0.44542	1.39	0.29716	N	0.83903	B	0.16603	0.018	B	0.15870	0.014	T	0.25641	-1.0126	10	0.13853	T	0.58	.	4.464	0.11680	0.145:0.121:0.6096:0.1244	.	460	Q13751	LAMB3_HUMAN	T	460	ENSP00000375778:P460T;ENSP00000348384:P460T;ENSP00000355997:P460T	ENSP00000348384:P460T	P	-	1	0	LAMB3	207867458	0.000000	0.05858	1.000000	0.80357	0.662000	0.39071	0.215000	0.17562	0.697000	0.31718	-0.263000	0.10527	CCC	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.637	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	protein_coding	OTTHUMT00000088525.2	G	NM_000228	-		209800835	-1	no_errors	ENST00000356082	ensembl	human	known	74_37	missense	SNP	0.958	T	T	209800835	G	T	209800835	3	4	96	1	0	0	0	0	1	0	0	0	8614	1174	41	3	2188	3	LAMB3	1	209800835	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	34451997	209800835	39449786	7	5437											
CNIH4	29097	genome.wustl.edu	37	chr1	224553606	224553606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattccagaattgattggccAtaccattgtcactgtattac	6	9	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:224553606A>G	ENST00000465271.1	+	3	239	c.164A>G	c.(163-165)cAt>cGt	p.H55R	CNIH4_ENST00000366857.5_Missense_Mutation_p.H55R|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Missense_Mutation_p.H55R|CNIH4_ENST00000366858.3_Missense_Mutation_p.H55R	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	55					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		TTGATTGGCCATACCATTGTC	0.388																																																	0								ENSG00000143771						476	355	396					1																	224553606		2203	4300	6503	CNIH4	SO:0001583	missense	0			-	HGNC		CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"cornichon homolog 4 (Drosophila)"			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.164A>G	1.37:g.224553606A>G	ENSP00000420443:p.His55Arg	Somatic	0	57	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	10	81.82	A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP							pfam_Cornichon	p.H55R	ENST00000465271.1	37	c.164	CCDS1543.1	1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860255	0.71834	.	.	ENSG00000143771	ENST00000465271;ENST00000366858;ENST00000366857;ENST00000366856	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.24	5.24	0.73138	.	0.047916	0.85682	D	0.000000	T	0.60919	0.2306	M	0.89287	3.02	0.80722	D	1	B	0.32653	0.379	B	0.38378	0.272	T	0.68164	-0.5481	10	0.87932	D	0	-14.3962	15.4341	0.75129	1.0:0.0:0.0:0.0	.	55	Q9P003	CNIH4_HUMAN	R	55	ENSP00000420443:H55R;ENSP00000355823:H55R;ENSP00000355822:H55R;ENSP00000355821:H55R	ENSP00000355821:H55R	H	+	2	0	CNIH4	222620229	1.000000	0.71417	0.917000	0.36280	0.993000	0.82548	6.772000	0.75001	2.107000	0.64212	0.379000	0.24179	CAT	-	pfam_Cornichon		0.388	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH4	protein_coding	OTTHUMT00000091754.1	A	NM_014184	-		224553606	1	no_errors	ENST00000465271	ensembl	human	known	74_37	missense	SNP	0.999	G	G	224553606	A	G	224553606	3	3	96	1	0	0	0	0	1	0	0	0	3607	217	8	5	174	5	CNIH4	1	224553606	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	14752771	224553606	24697015	8	5438											
OR2B11	127623	genome.wustl.edu	37	chr1	247615033	247615033	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcccatgttgaccagcatCtgagggactgtcgtggtggt	14	10	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr1:247615033C>A	ENST00000318749.6	-	1	275	c.252G>T	c.(250-252)caG>caT	p.Q84H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGACCAGCATCTGAGGGACTG	0.567																																																	0								ENSG00000177535						142	135	137					1																	247615033		2203	4300	6503	OR2B11	SO:0001583	missense	0			-	HGNC		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.252G>T	1.37:g.247615033C>A	ENSP00000325682:p.Gln84His	Somatic	0	33	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	9	64.00	B2RP03	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q84H	ENST00000318749.6	37	c.252	CCDS31090.1	1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900281	0.52227	.	.	ENSG00000177535	ENST00000318749	T	0.01902	4.57	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.08670	0.0215	M	0.81942	2.565	0.30613	N	0.759316	D	0.67145	0.996	P	0.56700	0.804	T	0.00978	-1.1493	10	0.62326	D	0.03	.	9.4788	0.38889	0.0:0.9057:0.0:0.0943	.	84	Q5JQS5	OR2BB_HUMAN	H	84	ENSP00000325682:Q84H	ENSP00000325682:Q84H	Q	-	3	2	OR2B11	245681656	0.000000	0.05858	1.000000	0.80357	0.848000	0.48234	-0.481000	0.06552	2.749000	0.94314	0.551000	0.68910	CAG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B11	protein_coding	OTTHUMT00000097620.1	C	NM_001004492	-		247615033	-1	no_errors	ENST00000318749	ensembl	human	known	74_37	missense	SNP	1.000	A	A	247615033	C	A	247615033	3	1	96	1	0	0	0	0	1	0	0	0	10990	912	32	3	704	3	OR2B11	1	247615033	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	23061427	247615033	1635588	9	5439											
PLEKHA3	65977	genome.wustl.edu	37	chr2	179365893	179365893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtgatattcctcttgaAgacccagatagtaagtgaca	9	7	1	5			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr2:179365893A>G	ENST00000234453.5	+	7	1167	c.765A>G	c.(763-765)gaA>gaG	p.E255E		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	255						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTCCTCTTGAAGACCCAGATA	0.413																																																	0								ENSG00000116095						78	80	80					2																	179365893		2203	4300	6503	PLEKHA3	SO:0001819	synonymous_variant	0			-	HGNC	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.765A>G	2.37:g.179365893A>G		Somatic	0	68	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	19	61.22	Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E255	ENST00000234453.5	37	c.765	CCDS33336.1	2																																																																																			-	NULL		0.413	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	protein_coding	OTTHUMT00000335241.2	A	NM_019091	-		179365893	1	no_errors	ENST00000234453	ensembl	human	known	74_37	silent	SNP	1.000	G	G	179365893	A	G	179365893	2	3	96	1	0	0	0	0	0	0	0	1	12059	69	3	5		5	PLEKHA3	2	179365893	Silent	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09		179365893	63833480	10	5440											
TRANK1	9881	genome.wustl.edu	37	chr3	36873669	36873669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacattcttccagaggcGggccagcaccaccccacagt	9	15	1	2	rs369117311		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr3:36873669G>A	ENST00000429976.2	-	21	7520	c.7273C>T	c.(7273-7275)Cgc>Tgc	p.R2425C	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1875C|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1875C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2425							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCAGAGGCGGGCCAGCACC	0.527																																																	0								ENSG00000168016	G	CYS/ARG	0,3866		0,0,1933	104	112	110		7273	4.4	1	3		110	1,8287		0,1,4143	no	missense	TRANK1	NM_014831.2	180	0,1,6076	AA,AG,GG		0.0121,0.0,0.0082	benign	2425/2926	36873669	1,12153	1933	4144	6077	TRANK1	SO:0001583	missense	0			-	HGNC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7273C>T	3.37:g.36873669G>A	ENSP00000416168:p.Arg2425Cys	Somatic	0	64	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	Q8N8K0	Missense_Mutation	SNP							pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R2425C	ENST00000429976.2	37	c.7273	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109344	0.37242	0.0	1.21E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.38401	1.14;1.54;1.14	5.27	4.39	0.52855	.	0.108387	0.41500	N	0.000871	T	0.29126	0.0724	L	0.32530	0.975	0.54753	D	0.99998	B	0.27068	0.167	B	0.20767	0.031	T	0.11324	-1.0592	10	0.87932	D	0	.	14.2186	0.65809	0.0722:0.0:0.9278:0.0	.	2425	O15050	TRNK1_HUMAN	C	1875;2425;1875	ENSP00000416826:R1875C;ENSP00000416168:R2425C;ENSP00000301807:R1875C	ENSP00000301807:R1875C	R	-	1	0	TRANK1	36848673	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.299000	0.59073	1.373000	0.46208	0.561000	0.74099	CGC	-	NULL		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	protein_coding		G	NM_014831	-		36873669	-1	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36873669	G	A	36873669	3	1	96	1	0	0	0	0	1	0	0	0	16461	1116	39	1	1516	1	TRANK1	3	36873669	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		36873669	161148761	11	5441											
CADPS	8618	genome.wustl.edu	37	chr3	62499312	62499312	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggtggtaggtactcaCgaatggttaaatccatcact	12	7	2	0	rs557590790		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr3:62499312C>T	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						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)		TAGGTACTCACGAATGGTTAA	0.433													C|||	1	0.000199681	8e-04	0	5008	,	,		18230	0		0	False		,,,				2504	0																0								ENSG00000163618						124	98	107					3																	62499312		2203	4300	6503	CADPS	SO:0001627	intron_variant	0			-	HGNC	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.2582-869G>A	3.37:g.62499312C>T		Somatic	0	51	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	20	47.37	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP							-	e17+1	ENST00000383710.4	37	c.2650+1	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016081	0.54468	.	.	ENSG00000163618	ENST00000283269	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62474352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.825000	0.97269	0.655000	0.94253	.	-	-		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394	-		62499312	-1	no_errors	ENST00000283269	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	62499312	C	T	62499312	1	4	96	0	1	0	0	0	0	0	0	0	2572	550	19	1		1	CADPS	3	62499312	Intron	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	25625643	62499312	135523118	12	5442											
CASR	846	genome.wustl.edu	37	chr3	122002847	122002847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgccgcctgcgccagccGgcctttggcatcagcttcgt	12	16	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr3:122002847G>A	ENST00000490131.1	+	7	2418	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	CASR_ENST00000296154.5_Silent_p.P682P|CASR_ENST00000498619.1_Silent_p.P692P|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	682					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGCGCCAGCCGGCCTTTGGCA	0.607																																																	0								ENSG00000036828						89	77	81					3																	122002847		2203	4300	6503	CASR	SO:0001819	synonymous_variant	0			-	HGNC	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2046G>A	3.37:g.122002847G>A		Somatic	0	22	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	2	81.82	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.P692	ENST00000490131.1	37	c.2076	CCDS3010.1	3																																																																																			-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.607	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	protein_coding	OTTHUMT00000355761.1	G	NM_000388	-		122002847	1	no_errors	ENST00000498619	ensembl	human	known	74_37	silent	SNP	0.016	A	A	122002847	G	A	122002847	2	1	96	1	0	0	0	0	0	0	0	1	2684	1103	39	1		1	CASR	3	122002847	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	59503535	122002847	76019583	13	5443											
DIRC2	84925	genome.wustl.edu	37	chr3	122514372	122514372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcgttcatgtggctcctGgacaagagaggtgaggggtc	16	8	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr3:122514372G>T	ENST00000261038.5	+	1	731	c.333G>T	c.(331-333)ctG>ctT	p.L111L	HSPBAP1_ENST00000383659.1_5'Flank|HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000306103.2_5'Flank	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	111					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGTGGCTCCTGGACAAGAGAG	0.721																																																	0								ENSG00000138463						15	17	16					3																	122514372		2201	4295	6496	DIRC2	SO:0001819	synonymous_variant	0			-	HGNC	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.333G>T	3.37:g.122514372G>T		Somatic	0	50	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K561|Q8NBX9	Silent	SNP							superfamily_MFS_dom_general_subst_transpt	p.L111	ENST00000261038.5	37	c.333	CCDS3018.1	3																																																																																			-	superfamily_MFS_dom_general_subst_transpt		0.721	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	protein_coding	OTTHUMT00000356180.2	G	NM_032839	-		122514372	1	no_errors	ENST00000261038	ensembl	human	known	74_37	silent	SNP	1.000	T	T	122514372	G	T	122514372	2	4	96	1	0	0	0	0	0	0	0	1	4536	1335	47	3		3	DIRC2	3	122514372	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	511525	122514372	75508058	14	5444											
ZBTB38	253461	genome.wustl.edu	37	chr3	141162758	141162758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaggcatgaaatttggCatacgggagaaagacgatat	13	5	0	3			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr3:141162758C>T	ENST00000514251.1	+	4	1807	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	ZBTB38_ENST00000321464.5_Missense_Mutation_p.H511Y|ZBTB38_ENST00000441582.2_Missense_Mutation_p.H510Y					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGAAATTTGGCATACGGGAGA	0.393																																																	0								ENSG00000177311						95	88	90					3																	141162758		1910	4128	6038	ZBTB38	SO:0001583	missense	0			-	HGNC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1528C>T	3.37:g.141162758C>T	ENSP00000426387:p.His510Tyr	Somatic	0	38	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H511Y	ENST00000514251.1	37	c.1531	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346406	0.82022	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	H	0.94964	3.605	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90805	0.4697	9	.	.	.	-26.5771	19.1701	0.93574	0.0:1.0:0.0:0.0	.	511;510	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Y	510;510;510;511	ENSP00000424254:H510Y;ENSP00000426387:H510Y;ENSP00000406955:H510Y;ENSP00000372635:H511Y	.	H	+	1	0	ZBTB38	142645448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.543000	0.85770	0.650000	0.86243	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	protein_coding	OTTHUMT00000359329.2	C		-		141162758	1	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141162758	C	T	141162758	3	4	96	1	0	0	0	0	1	0	0	0	17546	710	25	2	1530	2	ZBTB38	3	141162758	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	18648386	141162758	56859672	15	5445											
GPR149	344758	genome.wustl.edu	37	chr3	154055902	154055902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatggccaacacttttGgatcgatagacttctatttt	8	8	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr3:154055902G>A	ENST00000389740.2	-	4	1881	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	594					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAACACTTTTGGATCGATAGA	0.408																																																	0								ENSG00000174948						127	127	127					3																	154055902		1847	4097	5944	GPR149	SO:0001819	synonymous_variant	0			-	HGNC	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1782C>T	3.37:g.154055902G>A		Somatic	0	75	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S594	ENST00000389740.2	37	c.1782	CCDS43162.1	3																																																																																			-	NULL		0.408	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	protein_coding	OTTHUMT00000353430.1	G	XM_293580	-		154055902	-1	no_errors	ENST00000389740	ensembl	human	known	74_37	silent	SNP	0.997	A	A	154055902	G	A	154055902	2	1	96	1	0	0	0	0	0	0	0	1	6656	1335	47	2		2	GPR149	3	154055902	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	12893144	154055902	43966528	16	5446											
UGT2B15	7366	genome.wustl.edu	37	chr4	69535762	69535762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaacaggtacataggaaGgagggaacagaaatcctcca	10	8	0	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr4:69535762G>A	ENST00000338206.5	-	1	584	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	192					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TACATAGGAAGGAGGGAACAG	0.358																																																	0								ENSG00000196620						167	166	166					4																	69535762		2203	4296	6499	UGT2B15	SO:0001583	missense	0			-	HGNC	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.575C>T	4.37:g.69535762G>A	ENSP00000341045:p.Pro192Leu	Somatic	0	109	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	54	18.18	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.P192L	ENST00000338206.5	37	c.575	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	g	4.975	0.181030	0.09443	.	.	ENSG00000196620	ENST00000338206	T	0.62232	0.04	2.79	2.79	0.32731	.	0.182885	0.36409	U	0.002605	T	0.53077	0.1774	L	0.47716	1.5	0.39029	D	0.959908	B	0.22983	0.078	B	0.34931	0.192	T	0.51513	-0.8696	10	0.32370	T	0.25	.	5.72	0.17982	0.1551:0.0:0.8449:0.0	.	192	P54855	UDB15_HUMAN	L	192	ENSP00000341045:P192L	ENSP00000341045:P192L	P	-	2	0	UGT2B15	69218357	1.000000	0.71417	0.686000	0.30086	0.044000	0.14063	6.678000	0.74508	1.536000	0.49237	0.442000	0.29010	CCT	-	pfam_UDP_glucos_trans		0.358	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	protein_coding	OTTHUMT00000365172.1	G	NM_001076	-		69535762	-1	no_errors	ENST00000338206	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69535762	G	A	69535762	3	1	96	1	0	0	0	0	1	0	0	0	16965	1000	35	2	2658	2	UGT2B15	4	69535762	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		69535762	121618514	17	5447											
RAP1GDS1	5910	genome.wustl.edu	37	chr4	99313196	99313205	+	Frame_Shift_Del	DEL	TGTGTCTTGT	TGTGTCTTGT	-													aaatgcagctcttacagaaaTgtgtcttgttgcatttggta							TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	TGTGTCTTGT	TGTGTCTTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr4:99313196_99313205delTGTGTCTTGT	ENST00000408927.3	+	6	715_724	c.602_611delTGTGTCTTGT	c.(601-612)atgtgtcttgttfs	p.MCLV201fs	RAP1GDS1_ENST00000339360.5_Frame_Shift_Del_p.MCLV202fs|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Frame_Shift_Del_p.MCLV152fs|RAP1GDS1_ENST00000380158.4_Frame_Shift_Del_p.MCLV153fs|RAP1GDS1_ENST00000453712.2_Frame_Shift_Del_p.MCLV202fs	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	201					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)		CTTACAGAAATGTGTCTTGTTGCATTTGGT	0.338			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0								ENSG00000138698																																			RAP1GDS1	SO:0001589	frameshift_variant	0				HGNC		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.602_611delTGTGTCTTGT	4.37:g.99313196_99313205delTGTGTCTTGT	ENSP00000386153:p.Met201fs	Somatic					0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1				E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Frame_Shift_Del	DEL							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.C203fs	ENST00000408927.3	37	c.605_614	CCDS43253.1	4																																																																																			-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.338	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	protein_coding	OTTHUMT00000363273.2	TGTGTCTTGT	NM_001100426			99313205	1	no_errors	ENST00000339360	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:1.000:1.000	-	-	99313205	TGTGTCTTGT	-	99313196	7	5	96	1	0	1	0	1	0	0	0	0	13047	1464	51	0	627	0	RAP1GDS1	4	99313196	Frame_Shift_Del	DEL	TGTGTCTTGT	TCGA-DX-A8BJ-01A-11D-A417-09	29777434	99313196	91841080	18	5448											
LARP1B	55132	genome.wustl.edu	37	chr4	129012526	129012526	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgattattcatatggttAtcaagaacatggtgaaagga	9	4	2	3			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr4:129012526A>T	ENST00000326639.6	+	7	738	c.527A>T	c.(526-528)tAt>tTt	p.Y176F	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.Y129F|LARP1B_ENST00000427266.1_Missense_Mutation_p.Y176F|LARP1B_ENST00000432347.2_Missense_Mutation_p.Y176F|LARP1B_ENST00000441387.1_Missense_Mutation_p.Y176F|LARP1B_ENST00000512292.1_Missense_Mutation_p.Y176F|LARP1B_ENST00000394288.3_Missense_Mutation_p.Y176F	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	176						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCATATGGTTATCAAGAACAT	0.313																																																	0								ENSG00000138709						90	87	88					4																	129012526		2203	4300	6503	LARP1B	SO:0001583	missense	0			-	HGNC		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.527A>T	4.37:g.129012526A>T	ENSP00000321997:p.Tyr176Phe	Somatic	0	65	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP							pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.Y176F	ENST00000326639.6	37	c.527	CCDS3738.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.54|13.54	2.269015|2.269015	0.40095|0.40095	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T;T;T	.|0.49139	.|1.84;1.39;1.39;0.81;0.79;1.81;1.82;1.39	4.29|4.29	3.05|3.05	0.35203|0.35203	.|.	.|0.225765	.|0.38663	.|N	.|0.001613	T|T	0.33177|0.33177	0.0854|0.0854	L|L	0.38953|0.38953	1.18|1.18	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.27625	.|0.026;0.05;0.05;0.183	.|B;B;B;B	.|0.28011	.|0.02;0.085;0.051;0.085	T|T	0.05178|0.05178	-1.0901|-1.0901	5|10	.|0.10902	.|T	.|0.67	.|.	10.0988|10.0988	0.42491|0.42491	0.6749:0.3251:0.0:0.0|0.6749:0.3251:0.0:0.0	.|.	.|176;176;176;176	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	F|F	144|176;176;129;176;176;129;176;176	.|ENSP00000321997:Y176F;ENSP00000422850:Y176F;ENSP00000427281:Y129F;ENSP00000377829:Y176F;ENSP00000390395:Y176F;ENSP00000264584:Y129F;ENSP00000396521:Y176F;ENSP00000403586:Y176F	.|ENSP00000264584:Y129F	L|Y	+|+	3|2	2|0	LARP1B|LARP1B	129231976|129231976	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.519000|3.519000	0.53458|0.53458	0.759000|0.759000	0.33084|0.33084	0.454000|0.454000	0.30748|0.30748	TTA|TAT	-	NULL		0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	protein_coding	OTTHUMT00000257173.2	A	NM_018078	-		129012526	1	no_errors	ENST00000326639	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129012526	A	T	129012526	3	4	96	1	0	0	0	0	1	0	0	0	8631	449	16	5	545	5	LARP1B	4	129012526	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	29699330	129012526	62141750	19	5449											
WDR17	116966	genome.wustl.edu	37	chr4	177094499	177094499	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatattcgtactgaaaaatTactcttgcatacgtgtactg	6	8	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr4:177094499T>G	ENST00000280190.4	+	27	3599	c.3443T>G	c.(3442-3444)tTa>tGa	p.L1148*	WDR17_ENST00000393643.2_Nonsense_Mutation_p.L1124*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.L1109*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.L1123*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1148										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACTGAAAAATTACTCTTGCAT	0.333																																																	0								ENSG00000150627						88	82	84					4																	177094499		2203	4300	6503	WDR17	SO:0001587	stop_gained	0			-	HGNC	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3443T>G	4.37:g.177094499T>G	ENSP00000280190:p.Leu1148*	Somatic	0	98	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	72	8.86	E7EQX0|Q0QD35	Nonsense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L1148*	ENST00000280190.4	37	c.3443	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	39|39	7.792046|7.792046	0.98492|0.98492	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.099373	.|0.40818	.|N	.|0.001006	T|.	0.38161|.	0.1030|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35226|.	-0.9797|.	3|.	.|0.02654	.|T	.|1	-6.9139|-6.9139	15.7271|15.7271	0.77770|0.77770	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	M|X	382|1109;1124;1148;1124	.|.	.|ENSP00000280190:L1148X	I|L	+|+	3|2	3|0	WDR17|WDR17	177331493|177331493	1.000000|1.000000	0.71417|0.71417	0.044000|0.044000	0.18714|0.18714	0.317000|0.317000	0.28152|0.28152	7.176000|7.176000	0.77643|0.77643	2.123000|2.123000	0.65237|0.65237	0.477000|0.477000	0.44152|0.44152	ATT|TTA	-	NULL		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	protein_coding	OTTHUMT00000362334.2	T		-		177094499	1	no_errors	ENST00000280190	ensembl	human	known	74_37	nonsense	SNP	0.294	G	G	177094499	T	G	177094499	4	3	96	1	0	0	0	0	0	1	0	0	17284	1764	61	5	3545	5	WDR17	4	177094499	Nonsense_Mutation	SNP	T	TCGA-DX-A8BJ-01A-11D-A417-09	48081973	177094499	14059777	20	5450											
ODZ3	55714	genome.wustl.edu	37	chr4	183268045	183268045	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcagccctcaccctgacAgatacggagcacgaaaacaa	7	14	2	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr4:183268045A>G	ENST00000511685.1	+	3	597	c.474A>G	c.(472-474)acA>acG	p.T158T	TENM3_ENST00000406950.2_Silent_p.T158T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	158	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										TCACCCTGACAGATACGGAGC	0.512																																																	0								ENSG00000218336						72	76	74					4																	183268045		1998	4184	6182	TENM3	SO:0001819	synonymous_variant	0			-	HGNC	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.474A>G	4.37:g.183268045A>G		Somatic	0	45	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	2	89.47	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T158	ENST00000511685.1	37	c.474	CCDS47165.1	4																																																																																			-	pfam_Ten_N		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	A		-		183268045	1	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	SNP	0.997	G	G	183268045	A	G	183268045	2	3	96	1	0	0	0	0	0	0	0	1	10838	175	7	5		5	ODZ3	4	183268045	Silent	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	6173546	183268045	7886231	21	5451											
PRDM9	56979	genome.wustl.edu	37	chr5	23524559	23524559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtgaactgctggtctGgtatggggatgaatacggcc	16	7	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr5:23524559G>T	ENST00000296682.3	+	10	1249	c.1067G>T	c.(1066-1068)tGg>tTg	p.W356L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	356	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						CTGCTGGTCTGGTATGGGGAT	0.527										HNSCC(3;0.000094)																																							0								ENSG00000164256						112	112	112					5																	23524559		1937	4128	6065	PRDM9	SO:0001583	missense	0			-	HGNC	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.1067G>T	5.37:g.23524559G>T	ENSP00000296682:p.Trp356Leu	Somatic	0	90	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	62	10.14	B4DX22|Q27Q50	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.W356L	ENST00000296682.3	37	c.1067	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062406	0.76187	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.73575	-0.76	4.23	4.23	0.50019	SET domain (2);	.	.	.	.	D	0.87916	0.6298	M	0.90870	3.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.90273	0.4309	9	0.87932	D	0	-7.1501	12.4978	0.55937	0.0:0.0:1.0:0.0	.	356	Q9NQV7	PRDM9_HUMAN	L	356;150	ENSP00000296682:W356L	ENSP00000253473:W150L	W	+	2	0	PRDM9	23560316	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.223000	0.65283	2.080000	0.62538	0.597000	0.82753	TGG	-	pfscan_SET_dom		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	protein_coding	OTTHUMT00000366375.1	G	NM_020227	-		23524559	1	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23524559	G	T	23524559	3	4	96	1	0	0	0	0	1	0	0	0	12468	1357	47	3	1101	3	PRDM9	5	23524559	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		23524559	157390701	22	5452											
CLINT1	9685	genome.wustl.edu	37	chr5	157230696	157230696	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcaaacagatcaacaaggTcaccagatgacttgctgcta	7	11	3	3			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr5:157230696T>A	ENST00000411809.2	-	8	1178	c.974A>T	c.(973-975)gAc>gTc	p.D325V	CLINT1_ENST00000523908.1_Missense_Mutation_p.D325V|CLINT1_ENST00000523094.1_Missense_Mutation_p.D307V|CLINT1_ENST00000530742.1_Missense_Mutation_p.D307V|CLINT1_ENST00000296951.5_Missense_Mutation_p.D307V	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	325					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCAACAAGGTCACCAGATGA	0.393																																					Colon(22;427 587 2170 6147 14291)												0								ENSG00000113282						42	44	43					5																	157230696		1867	4110	5977	CLINT1	SO:0001583	missense	0			-	HGNC	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.974A>T	5.37:g.157230696T>A	ENSP00000388340:p.Asp325Val	Somatic	0	62	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.00	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP							pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.D307V	ENST00000411809.2	37	c.920	CCDS47330.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.415018|4.415018	0.83449|0.83449	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.51325|.	0.71;0.71;0.73;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.262756|.	0.44483|.	D|.	0.000458|.	T|.	0.72334|.	0.3447|.	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	B;B|.	0.31241|.	0.315;0.174|.	B;B|.	0.20384|.	0.029;0.019|.	T|.	0.71230|.	-0.4654|.	10|.	0.39692|.	T|.	0.17|.	-14.0014|-14.0014	16.229|16.229	0.82321|0.82321	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	325;325|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	V|C	307;307;325;307;325|41	ENSP00000429345:D307V;ENSP00000433419:D307V;ENSP00000388340:D325V;ENSP00000296951:D307V;ENSP00000429824:D325V|.	ENSP00000296951:D307V|.	D|X	-|-	2|3	0|0	CLINT1|CLINT1	157163274|157163274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.354000|5.354000	0.66040|0.66040	2.238000|2.238000	0.73509|0.73509	0.529000|0.529000	0.55759|0.55759	GAC|TGA	-	NULL		0.393	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	protein_coding	OTTHUMT00000374001.1	T	NM_014666	-		157230696	-1	no_errors	ENST00000296951	ensembl	human	known	74_37	missense	SNP	1.000	A	A	157230696	T	A	157230696	3	1	96	1	0	0	0	0	1	0	0	0	3533	1667	58	5	923	5	CLINT1	5	157230696	Missense_Mutation	SNP	T	TCGA-DX-A8BJ-01A-11D-A417-09	133706137	157230696	23684564	23	5453											
SCUBE3	222663	genome.wustl.edu	37	chr6	35205748	35205748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgactggtgtccactgcaCctgccctgtgggcttcatgc	12	14	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr6:35205748C>A	ENST00000274938.7	+	7	782	c.782C>A	c.(781-783)aCc>aAc	p.T261N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.T277N	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 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						GTCCACTGCACCTGCCCTGTG	0.552																																																	0								ENSG00000146197						114	95	102					6																	35205748		2203	4300	6503	SCUBE3	SO:0001583	missense	0			-	HGNC	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.782C>A	6.37:g.35205748C>A	ENSP00000274938:p.Thr261Asn	Somatic	0	68	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	4	90.00		Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.T277N	ENST00000274938.7	37	c.830	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098145	0.56183	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96365	-3.99;-3.99	5.38	3.48	0.39840	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.046777	0.85682	D	0.000000	D	0.92087	0.7492	L	0.50847	1.595	0.36099	D	0.843971	B;B	0.20164	0.012;0.042	B;B	0.24701	0.045;0.055	D	0.90565	0.4518	10	0.72032	D	0.01	.	15.2029	0.73153	0.0:0.2785:0.7215:0.0	.	277;261	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	N	277;261	ENSP00000378174:T277N;ENSP00000274938:T261N	ENSP00000274938:T261N	T	+	2	0	SCUBE3	35313726	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.548000	0.73896	1.265000	0.44215	-0.479000	0.04858	ACC	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin		0.552	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	protein_coding	OTTHUMT00000040275.1	C	NM_152753	-		35205748	1	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35205748	C	A	35205748	3	1	96	1	0	0	0	0	1	0	0	0	13954	507	18	3	808	3	SCUBE3	6	35205748	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09		35205748	135909319	24	5454											
ZC3H12D	340152	genome.wustl.edu	37	chr6	149783053	149783053	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcctctgtccctgaacCagtcaacagccagcttgatt	8	13	2	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr6:149783053C>T	ENST00000409806.3	-	3	677	c.359G>A	c.(358-360)tGg>tAg	p.W120*	ZC3H12D_ENST00000389942.5_Nonsense_Mutation_p.W120*|ZC3H12D_ENST00000409948.1_Nonsense_Mutation_p.W120*|ZC3H12D_ENST00000542614.1_Nonsense_Mutation_p.W120*|ZC3H12D_ENST00000416573.2_Nonsense_Mutation_p.W120*			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	120					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GTCCCTGAACCAGTCAACAGC	0.478																																																	0								ENSG00000178199						79	79	79					6																	149783053		1979	4161	6140	ZC3H12D	SO:0001587	stop_gained	0			-	HGNC			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.359G>A	6.37:g.149783053C>T	ENSP00000386616:p.Trp120*	Somatic	0	59	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Nonsense_Mutation	SNP							pfam_RNase_Zc3h12	p.W120*	ENST00000409806.3	37	c.359		6	.	.	.	.	.	.	.	.	.	.	C	36	5.951446	0.97139	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614;ENST00000409948	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.051	18.9014	0.92444	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000374592:W120X	W	-	2	0	ZC3H12D	149824746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.254000	0.58798	2.709000	0.92574	0.563000	0.77884	TGG	-	pfam_RNase_Zc3h12		0.478	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	ZC3H12D	protein_coding	OTTHUMT00000286400.2	C	NM_207360	-		149783053	-1	no_errors	ENST00000389942	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	149783053	C	T	149783053	4	4	96	1	0	0	0	0	0	1	0	0	17571	595	21	2	1240	2	ZC3H12D	6	149783053	Nonsense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	114577305	149783053	21332014	25	5455											
SYNE1	23345	genome.wustl.edu	37	chr6	152552672	152552672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcacaaaatccactgtcaGctgtttacagttaatgtcta	6	9	3	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr6:152552672G>T	ENST00000367255.5	-	114	21494	c.20893C>A	c.(20893-20895)Ctg>Atg	p.L6965M	SYNE1_ENST00000265368.4_Missense_Mutation_p.L6965M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L6894M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6894M|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1489M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6577M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6965					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)		TCCACTGTCAGCTGTTTACAG	0.378										HNSCC(10;0.0054)																																							0								ENSG00000131018						86	79	81					6																	152552672		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.20893C>A	6.37:g.152552672G>T	ENSP00000356224:p.Leu6965Met	Somatic	0	71	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6965M	ENST00000367255.5	37	c.20893	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921569	0.52653	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.58060	0.46;0.45;0.36;0.44;0.57;2.49	6.03	-8.86	0.00795	.	0.000000	0.48286	D	0.000185	T	0.51770	0.1694	L	0.59912	1.85	0.45690	D	0.998608	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77330	-0.2628	10	0.54805	T	0.06	.	17.3894	0.87426	0.3315:0.0:0.6685:0.0	.	6965;6965;6894	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	M	6965;6894;6965;6894;6577;1489	ENSP00000356224:L6965M;ENSP00000396024:L6894M;ENSP00000265368:L6965M;ENSP00000390975:L6894M;ENSP00000341887:L6577M;ENSP00000349276:L1489M	ENSP00000265368:L6965M	L	-	1	2	SYNE1	152594365	0.881000	0.30235	0.587000	0.28692	0.749000	0.42624	-0.028000	0.12350	-1.919000	0.01071	-1.105000	0.02106	CTG	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152552672	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.845	T	T	152552672	G	T	152552672	3	4	96	1	0	0	0	0	1	0	0	0	15452	962	34	3	5705	3	SYNE1	6	152552672	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	2769619	152552672	18562395	26	5456											
NOD1	10392	genome.wustl.edu	37	chr7	30491184	30491184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcccacagggccttgcGctttctcctcagggctgccg	13	15	2	0	rs140167031		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr7:30491184G>A	ENST00000222823.4	-	6	2374	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	617					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGGGCCTTGCGCTTTCTCCTC	0.612													G|||	1	0.000199681	0	0	5008	,	,		17946	0.001		0	False		,,,				2504	0																0								ENSG00000106100	G	CYS/ARG	0,4404		0,0,2202	29	33	31		1849	5.5	1	7	dbSNP_134	31	7,8591	5.7+/-21.5	0,7,4292	yes	missense	NOD1	NM_006092.2	180	0,7,6494	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	617/954	30491184	7,12995	2202	4299	6501	NOD1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1849C>T	7.37:g.30491184G>A	ENSP00000222823:p.Arg617Cys	Somatic	0	31	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.29	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R617C	ENST00000222823.4	37	c.1849	CCDS5427.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.33	3.094209	0.56075	0.0	8.14E-4	ENSG00000106100	ENST00000222823	T	0.71817	-0.6	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82331	-0.0510	10	0.52906	T	0.07	.	12.0279	0.53382	0.0:0.0:0.7264:0.2736	.	617	Q9Y239	NOD1_HUMAN	C	617	ENSP00000222823:R617C	ENSP00000222823:R617C	R	-	1	0	NOD1	30457709	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	4.798000	0.62510	2.571000	0.86741	0.655000	0.94253	CGC	-	NULL		0.612	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	G		rs140167031		30491184	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30491184	G	A	30491184	3	1	96	1	0	0	0	0	1	0	0	0	10518	1087	38	1	1048	1	NOD1	7	30491184	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		30491184	128647479	27	5457											
DPY19L1	23333	genome.wustl.edu	37	chr7	35006559	35006559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatatcaatgtacccgacaaCatatactgcaaataatgatg	5	8	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr7:35006559C>A	ENST00000310974.4	-	10	964	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	274						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACCCGACAACATATACTGCA	0.249																																																	0								ENSG00000173852						42	39	40					7																	35006559		1780	4017	5797	DPY19L1	SO:0001583	missense	0			-	HGNC	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.820G>T	7.37:g.35006559C>A	ENSP00000308695:p.Val274Phe	Somatic	0	220	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	10	84.85	O94954|Q4G151	Missense_Mutation	SNP							pfam_Dpy-19	p.V274F	ENST00000310974.4	37	c.820	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299901	0.60195	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.56444	0.46;0.46	4.78	4.78	0.61160	.	0.116278	0.56097	D	0.000030	T	0.61515	0.2353	M	0.70275	2.135	0.36129	D	0.84601	D	0.59767	0.986	P	0.55161	0.77	T	0.69771	-0.5055	10	0.45353	T	0.12	-18.8203	9.3418	0.38085	0.0:0.9003:0.0:0.0997	.	274	Q2PZI1	D19L1_HUMAN	F	274;73	ENSP00000308695:V274F;ENSP00000400510:V73F	ENSP00000308695:V274F	V	-	1	0	DPY19L1	34973084	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	1.415000	0.34748	2.365000	0.80145	0.555000	0.69702	GTT	-	pfam_Dpy-19		0.249	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	protein_coding	OTTHUMT00000337506.1	C		-		35006559	-1	no_errors	ENST00000310974	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35006559	C	A	35006559	3	1	96	1	0	0	0	0	1	0	0	0	4742	478	17	3	1259	3	DPY19L1	7	35006559	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	4515375	35006559	124132104	28	5458											
TRRAP	8295	genome.wustl.edu	37	chr7	98569420	98569420	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgctgctttgtttcttAggatgtagagatagacatcg	11	6	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr7:98569420A>G	ENST00000359863.4	+	52	7880		c.e52-1		TRRAP_ENST00000446306.3_Splice_Site|TRRAP_ENST00000355540.3_Splice_Site	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGTTTCTTAGGATGTAGAG	0.428																																																	0								ENSG00000196367						208	224	218					7																	98569420		2203	4300	6503	TRRAP	SO:0001630	splice_region_variant	0			-	HGNC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7672-1A>G	7.37:g.98569420A>G		Somatic	0	81	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A4D265|O75218|Q9Y631|Q9Y6H4	Splice_Site	SNP							-	e51-2	ENST00000359863.4	37	c.7672-2	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265553	0.59431	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306;ENST00000456197	.	.	.	5.69	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.679	0.56912	0.862:0.138:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRRAP	98407356	1.000000	0.71417	0.536000	0.28039	0.673000	0.39480	9.339000	0.96797	0.948000	0.37687	0.533000	0.62120	.	-	-		0.428	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	A	NM_003496	-	Intron	98569420	1	no_errors	ENST00000359863	ensembl	human	known	74_37	splice_site	SNP	0.988	G	G	98569420	A	G	98569420	5	3	96	1	0	0	0	0	0	0	1	0	16608	434	15	5	7814	5	TRRAP	7	98569420	Splice_Site	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	63562861	98569420	60569243	29	5459											
FEZF1	389549	genome.wustl.edu	37	chr7	121943846	121943846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggtctttgaaagctaCtccagaagggtatttctcca	10	9	2	2	rs570106853		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr7:121943846C>A	ENST00000442488.2	-	1	713	c.646G>T	c.(646-648)Gta>Tta	p.V216L	FEZF1_ENST00000427185.2_Missense_Mutation_p.V166L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.V216L|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	216					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|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)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTGAAAGCTACTCCAGAAGGG	0.502																																																	0								ENSG00000128610						64	69	68					7																	121943846		2203	4300	6503	FEZF1	SO:0001583	missense	0			-	HGNC	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.646G>T	7.37:g.121943846C>A	ENSP00000411145:p.Val216Leu	Somatic	0	52	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V216L	ENST00000442488.2	37	c.646	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516525	0.27123	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.06687	3.27;3.4;3.34	5.24	4.3	0.51218	.	0.137987	0.46758	D	0.000273	T	0.06416	0.0165	N	0.24115	0.695	0.36266	D	0.854888	B;B	0.18013	0.015;0.025	B;B	0.18871	0.01;0.023	T	0.30238	-0.9985	10	0.13470	T	0.59	-9.0225	15.0537	0.71894	0.0:0.7505:0.2495:0.0	.	216;166	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	L	216;216;166	ENSP00000411145:V216L;ENSP00000332777:V216L;ENSP00000392727:V166L	ENSP00000332777:V216L	V	-	1	0	FEZF1	121731082	0.894000	0.30519	1.000000	0.80357	0.776000	0.43924	2.291000	0.43540	2.595000	0.87683	0.555000	0.69702	GTA	-	NULL		0.502	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	protein_coding	OTTHUMT00000347410.1	C	NM_001024613	-		121943846	-1	no_errors	ENST00000442488	ensembl	human	known	74_37	missense	SNP	0.996	A	A	121943846	C	A	121943846	3	1	96	1	0	0	0	0	1	0	0	0	5827	565	20	3	797	3	FEZF1	7	121943846	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	23374426	121943846	37194817	30	5460											
TMEM209	84928	genome.wustl.edu	37	chr7	129845200	129845224	+	Start_Codon_Del	DEL	CCCGAAAACGCACCATGTCCTCTGG	CCCGAAAACGCACCATGTCCTCTGG	-													acaggaagcacaaacacgacCccgaaaacgcaccatgtcct					rs569579117|rs62491980|rs369367037|rs372766670	byFrequency	TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	CCCGAAAACGCACCATGTCCTCTGG	CCCGAAAACGCACCATGTCCTCTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr7:129845200_129845224delCCCGAAAACGCACCATGTCCTCTGG	ENST00000397622.2	-	0	114_126				TMEM209_ENST00000336804.8_5'UTR|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Start_Codon_Del|SSMEM1_ENST00000297819.3_5'Flank|TMEM209_ENST00000462753.1_5'Flank	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CAAACACGACCCCGAAAACGCACCATGTCCTCTGGCCGGAAAACG	0.6																																																	0								ENSG00000146842																																			TMEM209	SO:0001582	initiator_codon_variant	0				HGNC		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653		7.37:g.129845200_129845224delCCCGAAAACGCACCATGTCCTCTGG		Somatic					0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Frame_Shift_Del	DEL							pfam_Cytochrome_B561-rel	p.M1fs	ENST00000397622.2	37	c.16_1	CCDS47712.1	7																																																																																			-	NULL		0.6	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	protein_coding	OTTHUMT00000349339.1	CCCGAAAACGCACCATGTCCTCTGG	NM_032842			129845224	-1	no_errors	ENST00000397622	ensembl	human	known	74_37	frame_shift_del	DEL	0.997:1.000:0.999:0.984:0.992:0.992:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.990:0.710:0.588	-	-	129845224	CCCGAAAACGCACCATGTCCTCTGG	-	129845200	7	5	96	1	0	1	0	1	0	0	0	0	16141	638	22	0		0	TMEM209	7	129845200	Start_Codon_Del	DEL	CCCGAAAACGCACCATGTCCTCTGG	TCGA-DX-A8BJ-01A-11D-A417-09	7901354	129845200	29293463	31	5461											
PSD3	23362	genome.wustl.edu	37	chr8	18393462	18393462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacatacatttcatagcGggttttctgaaggcaaagcc	10	9	2	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr8:18393462G>A	ENST00000327040.8	-	16	3037	c.2935C>T	c.(2935-2937)Cgc>Tgc	p.R979C	PSD3_ENST00000286485.8_Missense_Mutation_p.R445C|PSD3_ENST00000523619.1_Missense_Mutation_p.R914C|PSD3_ENST00000440756.2_Missense_Mutation_p.R981C|PSD3_ENST00000428502.2_Missense_Mutation_p.R308C	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	980					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)		ATTTCATAGCGGGTTTTCTGA	0.478																																																	0								ENSG00000156011						76	70	72					8																	18393462		2203	4300	6503	PSD3	SO:0001583	missense	0			-	HGNC	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.2935C>T	8.37:g.18393462G>A	ENSP00000324127:p.Arg979Cys	Somatic	0	16	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.R981C	ENST00000327040.8	37	c.2941	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012378	0.54468	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.33865	2.06;2.06;1.39;2.06	5.8	5.8	0.92144	.	0.000000	0.39759	U	0.001273	T	0.62282	0.2415	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.932	T	0.66436	-0.5924	10	0.87932	D	0	.	12.4853	0.55868	0.0:0.0:0.8329:0.1671	.	979;980;445;308	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	C	979;981;201;445;308;914	ENSP00000324127:R979C;ENSP00000401704:R981C;ENSP00000286485:R445C;ENSP00000430640:R914C	ENSP00000286485:R445C	R	-	1	0	PSD3	18437742	1.000000	0.71417	0.996000	0.52242	0.381000	0.30169	5.912000	0.69948	2.733000	0.93635	0.655000	0.94253	CGC	-	NULL		0.478	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	protein_coding	OTTHUMT00000374867.1	G	NM_015310	-		18393462	-1	no_errors	ENST00000440756	ensembl	human	known	74_37	missense	SNP	0.999	A	A	18393462	G	A	18393462	3	1	96	1	0	0	0	0	1	0	0	0	12653	1116	39	1	212	1	PSD3	8	18393462	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		18393462	127970560	32	5462											
RALYL	138046	genome.wustl.edu	37	chr8	85800008	85800008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagatgggggtcatgaGctggtaggaaagaaacattt	15	3	1	4			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr8:85800008G>A	ENST00000521268.1	+	8	1960	c.855G>A	c.(853-855)gaG>gaA	p.E285E	RALYL_ENST00000522455.1_Silent_p.E285E|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Silent_p.E285E|RALYL_ENST00000523850.1_Silent_p.E212E|RALYL_ENST00000518566.1_Silent_p.E274E|RALYL_ENST00000517638.1_Silent_p.E298E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	285							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGGGTCATGAGCTGGTAGGAA	0.453																																																	0								ENSG00000184672						128	130	129					8																	85800008		1987	4155	6142	RALYL	SO:0001819	synonymous_variant	0			-	HGNC		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.855G>A	8.37:g.85800008G>A		Somatic	0	61	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.E285	ENST00000521268.1	37	c.855	CCDS55253.1	8																																																																																			-	pirsf_hnRNP_C_Raly		0.453	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	protein_coding	OTTHUMT00000379448.1	G		-		85800008	1	no_errors	ENST00000521268	ensembl	human	known	74_37	silent	SNP	1.000	A	A	85800008	G	A	85800008	2	1	96	1	0	0	0	0	0	0	0	1	13028	962	34	2		2	RALYL	8	85800008	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	67406546	85800008	60564014	33	5463											
SHARPIN	81858	genome.wustl.edu	37	chr8	145154939	145154939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacagggcatgcttctGggcccaaggctggtggtgag	19	8	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr8:145154939G>A	ENST00000398712.2	-	3	846	c.410C>T	c.(409-411)cCa>cTa	p.P137L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	137	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGCTTCTGGGCCCAAGGC	0.602																																																	0								ENSG00000179526						217	226	223					8																	145154939		2167	4265	6432	SHARPIN	SO:0001583	missense	0			-	HGNC	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.410C>T	8.37:g.145154939G>A	ENSP00000381698:p.Pro137Leu	Somatic	0	56	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	18	71.88	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP							pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P137L	ENST00000398712.2	37	c.410	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324014	0.24080	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.47528	1.51;0.84	3.28	1.48	0.22813	.	1.077510	0.07192	N	0.855922	T	0.65439	0.2691	M	0.73598	2.24	0.19775	N	0.999958	D	0.89917	1.0	D	0.83275	0.996	T	0.44847	-0.9301	10	0.72032	D	0.01	.	5.609	0.17394	0.2574:0.0:0.7426:0.0	.	137	Q9H0F6	SHRPN_HUMAN	L	137	ENSP00000381698:P137L;ENSP00000352551:P137L	ENSP00000352551:P137L	P	-	2	0	SHARPIN	145226927	0.002000	0.14202	0.286000	0.24833	0.085000	0.17905	0.648000	0.24828	0.417000	0.25871	-0.379000	0.06801	CCA	-	NULL		0.602	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	protein_coding	OTTHUMT00000382901.1	G	NM_030974	-		145154939	-1	no_errors	ENST00000398712	ensembl	human	known	74_37	missense	SNP	0.193	A	A	145154939	G	A	145154939	3	1	96	1	0	0	0	0	1	0	0	0	14275	1348	47	2	777	2	SHARPIN	8	145154939	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	59354931	145154939	1209083	34	5464											
RPS6	6194	genome.wustl.edu	37	chr9	19378401	19378401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcttacaacatactggCggacatcatcttctttagag	7	10	4	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr9:19378401C>T	ENST00000380394.4	-	4	519	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Missense_Mutation_p.R123H|RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000315377.4_Missense_Mutation_p.R123H	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	154					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AACATACTGGCGGACATCATC	0.423																																																	0								ENSG00000137154						72	73	73					9																	19378401		2203	4300	6503	RPS6	SO:0001583	missense	0			-	HGNC		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"S ribosomal proteins"	10429	protein-coding gene	gene with protein product	"40S ribosomal protein S6", "phosphoprotein NP33"	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.461G>A	9.37:g.19378401C>T	ENSP00000369757:p.Arg154His	Somatic	0	46	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP							pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk	p.R154H	ENST00000380394.4	37	c.461	CCDS6492.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160405	0.78226	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.51817	0.69;0.7;0.7	5.19	5.19	0.71726	.	0.107041	0.64402	D	0.000008	T	0.46092	0.1375	L	0.56280	1.765	0.80722	D	1	B;B	0.18461	0.014;0.028	B;B	0.11329	0.006;0.006	T	0.33777	-0.9855	9	.	.	.	-14.19	19.0715	0.93140	0.0:1.0:0.0:0.0	.	123;154	A2A3R5;P62753	.;RS6_HUMAN	H	154;123;123	ENSP00000369757:R154H;ENSP00000369745:R123H;ENSP00000369743:R123H	.	R	-	2	0	RPS6	19368401	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.705000	0.84606	2.578000	0.87016	0.563000	0.77884	CGC	-	pirsf_Ribosomal_S6_euk		0.423	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6	protein_coding	OTTHUMT00000051858.1	C	NM_001010	-		19378401	-1	no_errors	ENST00000380394	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19378401	C	T	19378401	3	4	96	1	0	0	0	0	1	0	0	0	13657	768	27	1	300	1	RPS6	9	19378401	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09		19378401	121835030	35	5465											
CEP78	84131	genome.wustl.edu	37	chr9	80861647	80861647	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggctttgctagaggcccttGaaaccaatacaactctggtc	9	11	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr9:80861647G>T	ENST00000424347.2	+	6	1130	c.841G>T	c.(841-843)Gaa>Taa	p.E281*	CEP78_ENST00000415759.2_Nonsense_Mutation_p.E281*|CEP78_ENST00000376598.2_Nonsense_Mutation_p.E281*|CEP78_ENST00000376597.4_Nonsense_Mutation_p.E281*|CEP78_ENST00000277082.5_Nonsense_Mutation_p.E281*			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	281					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGAGGCCCTTGAAACCAATAC	0.393																																																	0								ENSG00000148019						83	83	83					9																	80861647		1838	4087	5925	CEP78	SO:0001587	stop_gained	0			-	HGNC	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.841G>T	9.37:g.80861647G>T	ENSP00000411284:p.Glu281*	Somatic	0	83	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Nonsense_Mutation	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E281*	ENST00000424347.2	37	c.841		9	.	.	.	.	.	.	.	.	.	.	G	35	5.554765	0.96514	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	5.75	5.75	0.90469	.	0.130352	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-25.3063	13.5239	0.61584	0.0:0.2555:0.7445:0.0	.	.	.	.	X	281	.	ENSP00000277082:E281X	E	+	1	0	CEP78	80051467	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.231000	0.51294	2.696000	0.92011	0.655000	0.94253	GAA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.393	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	protein_coding	OTTHUMT00000052766.2	G	XM_095991	-		80861647	1	no_errors	ENST00000376597	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	80861647	G	T	80861647	4	4	96	1	0	0	0	0	0	1	0	0	3264	1291	45	3	863	3	CEP78	9	80861647	Nonsense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	61483246	80861647	60351784	36	5466											
NR4A3	8013	genome.wustl.edu	37	chr9	102590467	102590467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcagcactgagatcaCggctacagccaccacgtccc	9	17	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr9:102590467C>T	ENST00000395097.2	+	3	872	c.143C>T	c.(142-144)aCg>aTg	p.T48M	NR4A3_ENST00000338488.4_Missense_Mutation_p.T48M|NR4A3_ENST00000330847.1_Missense_Mutation_p.T59M	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	48					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACTGAGATCACGGCTACAGCC	0.567			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	0								ENSG00000119508						153	120	131					9																	102590467		2203	4300	6503	NR4A3	SO:0001583	missense	0			-	HGNC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.143C>T	9.37:g.102590467C>T	ENSP00000378531:p.Thr48Met	Somatic	0	20	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	6	72.73	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.T59M	ENST00000395097.2	37	c.176	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399789	0.25291	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91407	-2.84;-2.42;-2.84	5.77	4.86	0.63082	.	1.302190	0.04699	N	0.415546	D	0.89040	0.6602	L	0.55481	1.735	0.27941	N	0.937526	B;B;B	0.26258	0.008;0.005;0.145	B;B;B	0.18263	0.003;0.001;0.021	T	0.76342	-0.2994	10	0.45353	T	0.12	.	10.3449	0.43901	0.0:0.7906:0.1358:0.0737	.	59;48;48	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	M	48;48;59	ENSP00000378531:T48M;ENSP00000340301:T48M;ENSP00000333122:T59M	ENSP00000333122:T59M	T	+	2	0	NR4A3	101630288	0.998000	0.40836	0.984000	0.44739	0.539000	0.34962	4.342000	0.59341	1.409000	0.46915	0.557000	0.71058	ACG	-	NULL		0.567	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	protein_coding	OTTHUMT00000055482.1	C		-		102590467	1	no_errors	ENST00000330847	ensembl	human	known	74_37	missense	SNP	0.845	T	T	102590467	C	T	102590467	3	4	96	1	0	0	0	0	1	0	0	0	10636	536	19	1	182	1	NR4A3	9	102590467	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	21728820	102590467	38622964	37	5467											
SVEP1	79987	genome.wustl.edu	37	chr9	113217882	113217882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttacctgtgtaacctgAtgggcactcacaaatgaatt	7	12	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr9:113217882A>C	ENST00000401783.2	-	22	4111	c.3775T>G	c.(3775-3777)Tca>Gca	p.S1259A	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1236A|SVEP1_ENST00000302728.8_Missense_Mutation_p.S1259A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1259	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTGTAACCTGATGGGCACTCA	0.398																																																	0								ENSG00000165124						72	68	69					9																	113217882		1876	4108	5984	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3775T>G	9.37:g.113217882A>C	ENSP00000384917:p.Ser1259Ala	Somatic	0	72	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S1259A	ENST00000401783.2	37	c.3775	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.118005	0.00349	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91521	-2.86;-2.86;-2.24	5.79	-2.75	0.05914	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.477333	0.24431	N	0.038587	T	0.70535	0.3235	N	0.03999	-0.3	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.62690	-0.6801	10	0.06891	T	0.86	.	7.6922	0.28575	0.3115:0.375:0.3134:0.0	.	1259;1259	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	A	1259;1236;1259	ENSP00000384917:S1259A;ENSP00000363593:S1236A;ENSP00000304118:S1259A	ENSP00000304118:S1259A	S	-	1	0	SVEP1	112257703	0.004000	0.15560	0.000000	0.03702	0.086000	0.17979	0.300000	0.19156	-0.385000	0.07833	-1.345000	0.01243	TCA	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		A		-		113217882	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	0.000	C	C	113217882	A	C	113217882	3	2	96	1	0	0	0	0	1	0	0	0	15427	333	12	5	7048	5	SVEP1	9	113217882	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	10627415	113217882	27995549	38	5468											
TET1	80312	genome.wustl.edu	37	chr10	70442683	70442683	+	Frame_Shift_Del	DEL	G	G	-													ctgcttgcctggacttctgtGctcatccccacagggacatt							TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr10:70442683delG	ENST00000373644.4	+	10	5214	c.5005delG	c.(5005-5007)gctfs	p.A1669fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1669					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						GGACTTCTGTGCTCATCCCCA	0.463																																																	0								ENSG00000138336						138	121	126					10																	70442683		2203	4300	6503	TET1	SO:0001589	frameshift_variant	0				HGNC	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.5005delG	10.37:g.70442683delG	ENSP00000362748:p.Ala1669fs	Somatic	0	48	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Del	DEL							pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A1669fs	ENST00000373644.4	37	c.5005	CCDS7281.1	10																																																																																			-	NULL		0.463	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	G	NM_030625			70442683	1	no_errors	ENST00000373644	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70442683	G	-	70442683	7	5	96	1	0	1	0	1	0	0	0	0	15776	1319	46	0	5039	0	TET1	10	70442683	Frame_Shift_Del	DEL	G	TCGA-DX-A8BJ-01A-11D-A417-09		70442683	65092064	39	5469											
ANXA7	310	genome.wustl.edu	37	chr10	75156285	75156285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaaaatacctgactagGgtaagtaggttgtcctccag	11	8	0	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr10:75156285G>C	ENST00000372921.5	-	5	483	c.427C>G	c.(427-429)Cct>Gct	p.P143A	ANXA7_ENST00000535178.1_Missense_Mutation_p.P13A|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	143	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ACCTGACTAGGGTAAGTAGGT	0.413																																																	0								ENSG00000138279						70	67	68					10																	75156285		2203	4300	6503	ANXA7	SO:0001583	missense	0			-	HGNC	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.427C>G	10.37:g.75156285G>C	ENSP00000362012:p.Pro143Ala	Somatic	0	43	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV	p.P143A	ENST00000372921.5	37	c.427	CCDS7325.1	10	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328166	0.41197	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178;ENST00000394847	T;T;T	0.04603	3.59;4.37;3.59	5.27	3.4	0.38934	.	1.448060	0.03889	N	0.278457	T	0.03477	0.0100	N	0.08118	0	0.42641	D	0.99341	P;P;B;P;B	0.39940	0.518;0.696;0.245;0.459;0.323	B;B;B;B;B	0.36464	0.114;0.214;0.118;0.225;0.114	T	0.36768	-0.9734	10	0.37606	T	0.19	.	7.5114	0.27575	0.0899:0.1673:0.7427:0.0	.	143;143;70;143;143	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	A	143;143;13;143	ENSP00000362012:P143A;ENSP00000362010:P143A;ENSP00000442864:P13A	ENSP00000362010:P143A	P	-	1	0	ANXA7	74826291	0.995000	0.38212	0.722000	0.30670	0.988000	0.76386	0.983000	0.29552	0.699000	0.31761	0.650000	0.86243	CCT	-	NULL		0.413	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	protein_coding	OTTHUMT00000048646.2	G	NM_001156	-		75156285	-1	no_errors	ENST00000372919	ensembl	human	known	74_37	missense	SNP	0.924	C	C	75156285	G	C	75156285	3	2	96	1	0	0	0	0	1	0	0	0	723	1232	43	4	1079	4	ANXA7	10	75156285	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	4713602	75156285	60378462	40	5470											
NOC3L	64318	genome.wustl.edu	37	chr10	96109108	96109134	+	Splice_Site	DEL	TCACAGCTTCACAACACATTTCAGATA	TCACAGCTTCACAACACATTTCAGATA	-													atcttgcttaaagagtttctTcacagcttcacaacacattt							TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	TCACAGCTTCACAACACATTTCAGATA	TCACAGCTTCACAACACATTTCAGATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr10:96109108_96109134delTCACAGCTTCACAACACATTTCAGATA	ENST00000371361.3	-	10	1230_1256	c.1130_1156delTATCTGAAATGTGTTGTGAAGCTGTGA	c.(1129-1158)atatctgaaatgtgttgtgaagctgtgaag>aag	p.ISEMCCEAV377del	NOC3L_ENST00000543788.1_Splice_Site_p.ISEMCCEAV115del|NOC3L_ENST00000371350.1_Splice_Site_p.ISEMCCEAV377del|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	377					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGAGTTTCTTCACAGCTTCACAACACATTTCAGATATCTGAAAAAT	0.379																																																	0								ENSG00000173145																																			NOC3L	SO:0001630	splice_region_variant	0				HGNC	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1129-1TATCTGAAATGTGTTGTGAAGCTGTGA>-	10.37:g.96109108_96109134delTCACAGCTTCACAACACATTTCAGATA		Somatic					0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q9H5M6|Q9H9D8	In_Frame_Del	DEL							pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.ISEMCCEAV377in_frame_del	ENST00000371361.3	37	c.1156_1130	CCDS7433.1	10																																																																																			-	superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3		0.379	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	protein_coding	OTTHUMT00000049466.1	TCACAGCTTCACAACACATTTCAGATA	NM_022451		In_Frame_Del	96109134	-1	no_errors	ENST00000371350	ensembl	human	known	74_37	in_frame_del	DEL	0.984:0.526:0.997:0.998:0.981:1.000:1.000:0.980:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.995:1.000	-	-	96109134	TCACAGCTTCACAACACATTTCAGATA	-	96109108	8	5	96	1	0	1	0	1	0	0	1	0	10516	1792	62	0	1294	0	NOC3L	10	96109108	Splice_Site	DEL	TCACAGCTTCACAACACATTTCAGATA	TCGA-DX-A8BJ-01A-11D-A417-09	20952823	96109108	39425639	41	5471											
ABCC2	1244	genome.wustl.edu	37	chr10	101552069	101552069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactctggacaagccacaGtccctgctgttcgatatacc	8	13	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr10:101552069G>A	ENST00000370449.4	+	3	399	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	ABCC2_ENST00000496621.1_3'UTR|ABCC2_ENST00000370434.1_Missense_Mutation_p.V96I	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	96					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACAAGCCACAGTCCCTGCTGT	0.468																																																	0								ENSG00000023839						144	122	129					10																	101552069		2203	4300	6503	ABCC2	SO:0001583	missense	0			-	HGNC	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.286G>A	10.37:g.101552069G>A	ENSP00000359478:p.Val96Ile	Somatic	0	43	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.V96I	ENST00000370449.4	37	c.286	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015849	0.19355	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.35421	1.31;1.31	5.37	-0.547	0.11836	.	0.600014	0.17833	N	0.160445	T	0.14960	0.0361	N	0.13043	0.29	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24048	-1.0171	10	0.12103	T	0.63	-13.2247	4.8055	0.13317	0.4545:0.2763:0.2692:0.0	.	96	Q92887	MRP2_HUMAN	I	96	ENSP00000359478:V96I;ENSP00000359463:V96I	ENSP00000359463:V96I	V	+	1	0	ABCC2	101542059	0.000000	0.05858	0.067000	0.19924	0.830000	0.47004	-0.358000	0.07641	0.134000	0.18681	0.561000	0.74099	GTC	-	tigrfam_Multidrug-R_assoc		0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	G	NM_000392	-		101552069	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	SNP	0.000	A	A	101552069	G	A	101552069	3	1	96	1	0	0	0	0	1	0	0	0	53	1029	36	2	296	2	ABCC2	10	101552069	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	5442961	101552069	33982678	42	5472											
MYBPC3	4607	genome.wustl.edu	37	chr11	47364235	47364235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggtggtgtctctgcccGtccttcttgaaccggtattt	10	11	3	1	rs397515908		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr11:47364235G>A	ENST00000545968.1	-	17	1572	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D	MYBPC3_ENST00000399249.2_Silent_p.D506D|MYBPC3_ENST00000256993.4_Silent_p.D505D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	506	Ig-like C2-type 3.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCTGCCCGTCCTTCTTGA	0.627																																																	0								ENSG00000134571						169	171	171					11																	47364235		2167	4268	6435	MYBPC3	SO:0001819	synonymous_variant	0			-	HGNC	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1518C>T	11.37:g.47364235G>A		Somatic	0	44	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D506	ENST00000545968.1	37	c.1518	CCDS53621.1	11																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	protein_coding	OTTHUMT00000392271.3	G		-		47364235	-1	no_errors	ENST00000399249	ensembl	human	known	74_37	silent	SNP	0.919	A	A	47364235	G	A	47364235	2	1	96	1	0	0	0	0	0	0	0	1	10015	1136	40	1		1	MYBPC3	11	47364235	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		47364235	87642281	43	5473											
OR8H2	390151	genome.wustl.edu	37	chr11	55872824	55872824	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgctttgcccagatgttCttttttgccttcttgggtac	10	10	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr11:55872824C>A	ENST00000313503.1	+	1	306	c.306C>A	c.(304-306)ttC>ttA	p.F102L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	102						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)					CCCAGATGTTCTTTTTTGCCT	0.438										HNSCC(53;0.14)																																							0								ENSG00000181767						302	306	305					11																	55872824		2201	4296	6497	OR8H2	SO:0001583	missense	0			-	HGNC	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.306C>A	11.37:g.55872824C>A	ENSP00000323982:p.Phe102Leu	Somatic	0	68	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	35	44.44	Q6IFC1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F102L	ENST00000313503.1	37	c.306	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	c	6.512	0.462771	0.12402	.	.	ENSG00000181767	ENST00000313503	T	0.02067	4.47	3.44	-3.67	0.04476	GPCR, rhodopsin-like superfamily (1);	0.761015	0.11716	N	0.536418	T	0.03178	0.0093	M	0.64676	1.99	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.30001	-0.9993	10	0.59425	D	0.04	.	11.003	0.47618	0.0:0.3229:0.0:0.6771	.	102	Q8N162	OR8H2_HUMAN	L	102	ENSP00000323982:F102L	ENSP00000323982:F102L	F	+	3	2	OR8H2	55629400	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-1.037000	0.03557	-0.716000	0.04962	0.281000	0.19383	TTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	protein_coding	OTTHUMT00000391540.1	C	NM_001005200	-		55872824	1	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55872824	C	A	55872824	3	1	96	1	0	0	0	0	1	0	0	0	11240	912	32	3	308	3	OR8H2	11	55872824	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	8508589	55872824	79133692	44	5474											
OR5M3	219482	genome.wustl.edu	37	chr11	56237609	56237609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggattcccaattgccAtgtatctatcaaaggccatc	8	11	2	1	rs200070203	byFrequency	TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr11:56237609A>G	ENST00000312240.2	-	1	405	c.365T>C	c.(364-366)aTg>aCg	p.M122T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCCAATTGCCATGTATCTATC	0.383													a|||	26	0.00519169	0	0.0058	5008	,	,		20815	0		0.0169	False		,,,				2504	0.0051																0								ENSG00000174937						92	86	88					11																	56237609		2201	4280	6481	OR5M3	SO:0001583	missense	0			-	HGNC	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.365T>C	11.37:g.56237609A>G	ENSP00000312208:p.Met122Thr	Somatic	0	25	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M122T	ENST00000312240.2	37	c.365	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	A	7.717	0.696444	0.15106	.	.	ENSG00000174937	ENST00000312240	T	0.01323	5.01	5.13	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.215738	0.32852	N	0.005578	T	0.01870	0.0059	L	0.43646	1.37	0.28098	N	0.931539	B	0.06786	0.001	B	0.10450	0.005	T	0.30995	-0.9959	10	0.56958	D	0.05	-7.874	9.9755	0.41781	0.9186:0.0:0.0814:0.0	.	122	Q8NGP4	OR5M3_HUMAN	T	122	ENSP00000312208:M122T	ENSP00000312208:M122T	M	-	2	0	OR5M3	55994185	0.001000	0.12720	0.975000	0.42487	0.077000	0.17291	1.595000	0.36708	0.794000	0.33899	-0.536000	0.04276	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.383	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	protein_coding	OTTHUMT00000391639.1	A	NM_001004742	rs200070203		56237609	-1	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56237609	A	G	56237609	3	3	96	1	0	0	0	0	1	0	0	0	11177	217	8	5	560	5	OR5M3	11	56237609	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	364785	56237609	78768907	45	5475											
PCNXL3	399909	genome.wustl.edu	37	chr11	65385164	65385164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgctgaagctcagctcGcaggagaaactgagtgcgtg	15	8	1	4	rs369630534	byFrequency	TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr11:65385164G>A	ENST00000355703.3	+	5	1103	c.564G>A	c.(562-564)tcG>tcA	p.S188S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	188						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTCAGCTCGCAGGAGAAAC	0.582													G|||	2	0.000399361	0	0	5008	,	,		18687	0.002		0	False		,,,				2504	0																0								ENSG00000197136	G		0,4220		0,0,2110	28	31	30		564	-10.3	0.6	11		30	1,8417		0,1,4208	no	coding-synonymous	PCNXL3	NM_032223.2		0,1,6318	AA,AG,GG		0.0119,0.0,0.0079		188/2035	65385164	1,12637	2110	4209	6319	PCNXL3	SO:0001819	synonymous_variant	0			-	HGNC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.564G>A	11.37:g.65385164G>A		Somatic	0	26	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q6MZN8	Silent	SNP							pfam_Pecanex	p.S188	ENST00000355703.3	37	c.564	CCDS44650.1	11																																																																																			-	NULL		0.582	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	protein_coding	OTTHUMT00000390321.1	G	NM_032223	-		65385164	1	no_errors	ENST00000355703	ensembl	human	known	74_37	silent	SNP	0.525	A	A	65385164	G	A	65385164	2	1	96	1	0	0	0	0	0	0	0	1	11595	1074	38	1		1	PCNXL3	11	65385164	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	9147555	65385164	69621352	46	5476											
FOLR2	2350	genome.wustl.edu	37	chr11	71932687	71932687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagcccagggcaaccccaacGaggaagtggcgaggttctat	13	12	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr11:71932687G>T	ENST00000298223.6	+	5	836	c.649G>T	c.(649-651)Gag>Tag	p.E217*	FOLR2_ENST00000449475.2_Nonsense_Mutation_p.E213*|FOLR2_ENST00000454954.2_Nonsense_Mutation_p.E176*	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	217					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CAACCCCAACGAGGAAGTGGC	0.577																																																	0								ENSG00000165457						96	93	94					11																	71932687		2200	4293	6493	FOLR2	SO:0001587	stop_gained	0			-	HGNC	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.649G>T	11.37:g.71932687G>T	ENSP00000298223:p.Glu217*	Somatic	0	40	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q05CA5|Q6GTE8	Nonsense_Mutation	SNP							pfam_Folate_rcpt-like	p.E217*	ENST00000298223.6	37	c.649	CCDS8212.1	11	.	.	.	.	.	.	.	.	.	.	g	21.0	4.078791	0.76528	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000454954	.	.	.	4.43	2.54	0.30619	.	0.534882	0.18726	U	0.132867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	9.3007	0.37845	0.1793:0.0:0.8207:0.0	.	.	.	.	X	213;217;176	.	ENSP00000298223:E217X	E	+	1	0	FOLR2	71610335	0.826000	0.29277	0.593000	0.28771	0.723000	0.41478	2.047000	0.41269	0.501000	0.28013	0.462000	0.41574	GAG	-	NULL		0.577	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLR2	protein_coding	OTTHUMT00000317923.2	G	NM_000803	-		71932687	1	no_errors	ENST00000298223	ensembl	human	known	74_37	nonsense	SNP	0.778	T	T	71932687	G	T	71932687	4	4	96	1	0	0	0	0	0	1	0	0	5984	1059	37	3	663	3	FOLR2	11	71932687	Nonsense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	6547523	71932687	63073829	47	5477											
OR10G8	219869	genome.wustl.edu	37	chr11	123900388	123900388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccttccccatgccccagCgctggacgcccccctctttg	10	20	1	0	rs141086209		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr11:123900388C>T	ENST00000431524.1	+	1	92	c.59C>T	c.(58-60)gCg>gTg	p.A20V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	20						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATGCCCCAGCGCTGGACGCC	0.567																																																	0								ENSG00000234560						181	172	175					11																	123900388		2201	4299	6500	OR10G8	SO:0001583	missense	0			-	HGNC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.59C>T	11.37:g.123900388C>T	ENSP00000389072:p.Ala20Val	Somatic	0	94	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	7	92.05	B2RNJ3|Q6IEV2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A20V	ENST00000431524.1	37	c.59	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	c	9.648	1.140764	0.21205	.	.	ENSG00000234560	ENST00000431524	T	0.00444	7.4	2.95	-4.46	0.03536	.	0.839687	0.10105	N	0.715454	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.33141	T	0.24	.	1.1766	0.01836	0.3869:0.2971:0.1277:0.1884	.	20	Q8NGN5	O10G8_HUMAN	V	20	ENSP00000389072:A20V	ENSP00000389072:A20V	A	+	2	0	OR10G8	123405598	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.166000	0.09954	-0.645000	0.05458	-1.091000	0.02175	GCG	-	NULL		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	C	NM_001004464	-		123900388	1	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	SNP	0.045	T	T	123900388	C	T	123900388	3	4	96	1	0	0	0	0	1	0	0	0	10905	768	27	1	61	1	OR10G8	11	123900388	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	51967701	123900388	11106128	48	5478											
KCNA1	3736	genome.wustl.edu	37	chr12	5021708	5021708	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaattggaggcaagatcgtGggctccttgtgtgccatcgc	13	10	0	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:5021708G>T	ENST00000382545.3	+	2	2271	c.1164G>T	c.(1162-1164)gtG>gtT	p.V388V	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)	388					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.V388V(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)	GCAAGATCGTGGGCTCCTTGT	0.527																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000111262						311	290	297					12																	5021708		2203	4300	6503	KCNA1	SO:0001819	synonymous_variant	0			-	HGNC	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.1164G>T	12.37:g.5021708G>T		Somatic	0	31	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A6NM83|Q3MIQ9	Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.V388	ENST00000382545.3	37	c.1164	CCDS8535.1	12																																																																																			-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl		0.527	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	protein_coding	OTTHUMT00000103343.2	G	NM_000217	-		5021708	1	no_errors	ENST00000382545	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5021708	G	T	5021708	2	4	96	1	0	0	0	0	0	0	0	1	8003	1335	47	3		3	KCNA1	12	5021708	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		5021708	128830187	49	5479											
CPNE8	144402	genome.wustl.edu	37	chr12	39079417	39079417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggggttttgaggattcccAttctgtagaaatttataggc	11	5	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:39079417A>G	ENST00000331366.5	-	16	1242	c.1146T>C	c.(1144-1146)aaT>aaC	p.N382N	CPNE8_ENST00000538596.2_Silent_p.N51N|CPNE8_ENST00000360449.3_Silent_p.N370N	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	382	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GAGGATTCCCATTCTGTAGAA	0.383																																																	0								ENSG00000139117						88	95	93					12																	39079417		2203	4300	6503	CPNE8	SO:0001819	synonymous_variant	0			-	HGNC	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1146T>C	12.37:g.39079417A>G		Somatic	0	59	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q2TB41|Q86VY2	Silent	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.N382	ENST00000331366.5	37	c.1146	CCDS8733.1	12																																																																																			-	pfam_Copine,smart_VWF_A,pfscan_VWF_A		0.383	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	protein_coding	OTTHUMT00000403856.1	A	NM_153634	-		39079417	-1	no_errors	ENST00000331366	ensembl	human	known	74_37	silent	SNP	1.000	G	G	39079417	A	G	39079417	2	3	96	1	0	0	0	0	0	0	0	1	3820	214	8	5		5	CPNE8	12	39079417	Silent	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	34057709	39079417	94772478	50	5480											
PPHLN1	51535	genome.wustl.edu	37	chr12	42836472	42836472	+	Frame_Shift_Del	DEL	C	C	-													gacagacttggcagcaggtaCcccctgtgaggaacactgaa							TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:42836472delC	ENST00000395568.2	+	11	1138	c.1054delC	c.(1054-1056)cccfs	p.P353fs	PPHLN1_ENST00000256678.8_Frame_Shift_Del_p.P233fs|PPHLN1_ENST00000337898.6_Frame_Shift_Del_p.P298fs|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Frame_Shift_Del_p.P298fs	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	353					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gcaGCAggtaccccctgtgag	0.552																																																	0								ENSG00000134283						130	130	130					12																	42836472		2203	4300	6503	PPHLN1	SO:0001589	frameshift_variant	0				HGNC	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1054delC	12.37:g.42836472delC	ENSP00000378935:p.Pro353fs	Somatic	0	77	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	69	9.21	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Frame_Shift_Del	DEL							NULL	p.P353fs	ENST00000395568.2	37	c.1054	CCDS31777.1	12																																																																																			-	NULL		0.552	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	protein_coding	OTTHUMT00000404047.1	C	NM_201515			42836472	1	no_errors	ENST00000395568	ensembl	human	known	74_37	frame_shift_del	DEL	0.319	-	-	42836472	C	-	42836472	7	5	96	1	0	1	0	1	0	0	0	0	12317	507	18	0	1209	0	PPHLN1	12	42836472	Frame_Shift_Del	DEL	C	TCGA-DX-A8BJ-01A-11D-A417-09	3757055	42836472	91015423	51	5481											
KRT84	3890	genome.wustl.edu	37	chr12	52771877	52771877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggacgctggagctgcggcCgccgctgcagctgctgaagc	17	14	0	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:52771877C>T	ENST00000257951.3	-	9	1810	c.1744G>A	c.(1744-1746)Ggc>Agc	p.G582S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	582	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCTGCGGCCGCCGCTGCAG	0.677																																																	0								ENSG00000161849						12	14	13					12																	52771877		2182	4273	6455	KRT84	SO:0001583	missense	0			-	HGNC	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1744G>A	12.37:g.52771877C>T	ENSP00000257951:p.Gly582Ser	Somatic	0	35	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G582S	ENST00000257951.3	37	c.1744	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	C	5.470	0.271695	0.10349	.	.	ENSG00000161849	ENST00000257951	D	0.81908	-1.55	3.57	2.66	0.31614	.	0.230288	0.22348	N	0.061253	T	0.70649	0.3248	L	0.36672	1.1	0.09310	N	1	P	0.52842	0.956	B	0.41088	0.347	T	0.63292	-0.6670	10	0.37606	T	0.19	.	6.1951	0.20546	0.0:0.8602:0.0:0.1398	.	582	Q9NSB2	KRT84_HUMAN	S	582	ENSP00000257951:G582S	ENSP00000257951:G582S	G	-	1	0	KRT84	51058144	0.697000	0.27767	0.207000	0.23584	0.189000	0.23516	1.818000	0.39012	1.991000	0.58162	0.462000	0.41574	GGC	-	NULL		0.677	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	protein_coding	OTTHUMT00000405187.1	C	NM_033045	-		52771877	-1	no_errors	ENST00000257951	ensembl	human	known	74_37	missense	SNP	0.102	T	T	52771877	C	T	52771877	3	4	96	1	0	0	0	0	1	0	0	0	8500	652	23	1	62	1	KRT84	12	52771877	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	9935405	52771877	81080018	52	5482											
LRP1	4035	genome.wustl.edu	37	chr12	57587731	57587731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgccgggacgggacctgcatCgggaactccagccgctgcaa	14	14	0	0	rs563379987		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:57587731C>G	ENST00000243077.3	+	48	8320	c.7854C>G	c.(7852-7854)atC>atG	p.I2618M	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2618	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGACCTGCATCGGGAACTCCA	0.617																																																	0								ENSG00000123384						100	92	95					12																	57587731		2203	4300	6503	LRP1	SO:0001583	missense	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7854C>G	12.37:g.57587731C>G	ENSP00000243077:p.Ile2618Met	Somatic	0	71	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	101	20.47	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I2618M	ENST00000243077.3	37	c.7854	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997677	0.35226	.	.	ENSG00000123384	ENST00000243077	D	0.98381	-4.9	5.09	-8.8	0.00817	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98595	0.9530	M	0.91406	3.205	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99945	1.1459	10	0.87932	D	0	.	12.917	0.58211	0.0928:0.1403:0.0:0.7668	.	2618	Q07954	LRP1_HUMAN	M	2618	ENSP00000243077:I2618M	ENSP00000243077:I2618M	I	+	3	3	LRP1	55873998	0.000000	0.05858	0.110000	0.21437	0.515000	0.34225	-3.836000	0.00354	-2.110000	0.00837	-0.906000	0.02833	ATC	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	C	NM_002332	-		57587731	1	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	SNP	0.073	G	G	57587731	C	G	57587731	3	3	96	1	0	0	0	0	1	0	0	0	8953	874	31	4	8044	4	LRP1	12	57587731	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	4815854	57587731	76264164	53	5483											
KSR2	283455	genome.wustl.edu	37	chr12	117992986	117992986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccttaccttgttgattttGttggttttggggagcgtctg	13	6	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:117992986G>T	ENST00000339824.5	-	9	2233	c.1506C>A	c.(1504-1506)aaC>aaA	p.N502K	KSR2_ENST00000425217.1_Missense_Mutation_p.N473K|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.N199K			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	502					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)			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)					TGTTGATTTTGTTGGTTTTGG	0.567																																																	0								ENSG00000171435						141	151	148					12																	117992986		1965	4155	6120	KSR2	SO:0001583	missense	0			-	HGNC	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.1506C>A	12.37:g.117992986G>T	ENSP00000339952:p.Asn502Lys	Somatic	0	57	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.N502K	ENST00000339824.5	37	c.1506		12	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843287	0.71488	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.85556	-1.15;-1.15;-2.0	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	N	0.17474	0.49	0.58432	D	0.999998	P	0.42248	0.774	B	0.39660	0.306	T	0.73398	-0.3995	10	0.07813	T	0.8	.	17.5266	0.87802	0.0:0.0:1.0:0.0	.	502	Q6VAB6	KSR2_HUMAN	K	473;502;199;174	ENSP00000389715:N473K;ENSP00000339952:N502K;ENSP00000305466:N199K	ENSP00000305466:N199K	N	-	3	2	KSR2	116477369	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.453000	0.80700	2.197000	0.70478	0.563000	0.77884	AAC	-	NULL		0.567	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	G	NM_173598	-		117992986	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117992986	G	T	117992986	3	4	96	1	0	0	0	0	1	0	0	0	8584	1368	48	3	1394	3	KSR2	12	117992986	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	60405255	117992986	15858909	54	5484											
RIMBP2	23504	genome.wustl.edu	37	chr12	130907024	130907024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgggactgtcacgggccggGacctctgaggaccagcgctg	16	12	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr12:130907024G>T	ENST00000261655.4	-	13	2607	c.2444C>A	c.(2443-2445)tCc>tAc	p.S815Y	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	815					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACGGGCCGGGACCTCTGAGG	0.567																																																	0								ENSG00000060709						53	44	47					12																	130907024		2203	4300	6503	RIMBP2	SO:0001583	missense	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2444C>A	12.37:g.130907024G>T	ENSP00000261655:p.Ser815Tyr	Somatic	0	38	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	Q96ID2	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S815Y	ENST00000261655.4	37	c.2444	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178420	0.21787	.	.	ENSG00000060709	ENST00000261655	T	0.20598	2.06	4.69	3.76	0.43208	.	1.010670	0.07944	N	0.979857	T	0.14056	0.0340	N	0.22421	0.69	0.80722	D	1	B	0.31054	0.306	B	0.28139	0.086	T	0.07635	-1.0762	10	0.02654	T	1	-6.4438	13.68	0.62479	0.0:0.0:0.8394:0.1606	.	815	O15034	RIMB2_HUMAN	Y	815	ENSP00000261655:S815Y	ENSP00000261655:S815Y	S	-	2	0	RIMBP2	129472977	1.000000	0.71417	0.008000	0.14137	0.099000	0.18886	5.339000	0.65953	0.891000	0.36235	0.561000	0.74099	TCC	-	NULL		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	-		130907024	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	SNP	0.991	T	T	130907024	G	T	130907024	3	4	96	1	0	0	0	0	1	0	0	0	13371	1174	41	3	742	3	RIMBP2	12	130907024	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	12914038	130907024	2944871	55	5485											
SPERT	220082	genome.wustl.edu	37	chr13	46287374	46287374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacagcacccctcgctgcGcgcagcaggccgccctgccc	11	20	0	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr13:46287374G>A	ENST00000310521.1	+	3	294	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	SPERT_ENST00000378966.3_Missense_Mutation_p.A36T	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	72						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCTCGCTGCGCGCAGCAGGC	0.652																																																	0								ENSG00000174015						30	31	30					13																	46287374		2202	4299	6501	SPERT	SO:0001583	missense	0			-	HGNC	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.214G>A	13.37:g.46287374G>A	ENSP00000309189:p.Ala72Thr	Somatic	0	80	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	16	68.63	A8K8I5|Q8NHV2	Missense_Mutation	SNP							NULL	p.A72T	ENST00000310521.1	37	c.214	CCDS9399.1	13	.	.	.	.	.	.	.	.	.	.	G	8.728	0.916016	0.17907	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.47869	0.89;0.83	5.1	-2.28	0.06826	.	0.690130	0.12656	N	0.450036	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	P;P	0.39326	0.668;0.668	B;B	0.28465	0.09;0.09	T	0.15378	-1.0439	10	0.56958	D	0.05	.	0.4051	0.00432	0.2059:0.2402:0.1976:0.3563	.	36;72	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	T	72;45;36	ENSP00000309189:A72T;ENSP00000368249:A36T	ENSP00000309189:A72T	A	+	1	0	SPERT	45185375	0.000000	0.05858	0.005000	0.12908	0.142000	0.21351	-0.200000	0.09478	-0.284000	0.09102	0.650000	0.86243	GCG	-	NULL		0.652	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPERT	protein_coding	OTTHUMT00000044786.2	G	NM_152719	-		46287374	1	no_errors	ENST00000310521	ensembl	human	known	74_37	missense	SNP	0.008	A	A	46287374	G	A	46287374	3	1	96	1	0	0	0	0	1	0	0	0	15046	1087	38	1	224	1	SPERT	13	46287374	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		46287374	68882504	56	5486											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22864212	22864212	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagaatacttgcaagctatgAggaattttttcttaatggaa	8	4	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr15:22864212A>T	ENST00000283645.4	+	16	2300	c.2170A>T	c.(2170-2172)Agg>Tgg	p.R724W	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R724W	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	724					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAAGCTATGAGGAATTTTTT	0.373																																																	0								ENSG00000153575						122	120	120					15																	22864212		2203	4300	6503	TUBGCP5	SO:0001583	missense	0			-	HGNC	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2170A>T	15.37:g.22864212A>T	ENSP00000283645:p.Arg724Trp	Somatic	0	81	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	49	15.52	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP							pfam_TUBGCP	p.R724W	ENST00000283645.4	37	c.2170	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605839	0.87157	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.10960	2.82;2.82	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.01977	-1.1236	10	0.87932	D	0	-10.0411	13.7068	0.62644	1.0:0.0:0.0:0.0	.	724;724	Q96RT8;E9PB12	GCP5_HUMAN;.	W	724	ENSP00000283645:R724W;ENSP00000409217:R724W	ENSP00000283645:R724W	R	+	1	2	TUBGCP5	20415653	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	6.725000	0.74752	2.228000	0.72767	0.482000	0.46254	AGG	-	pfam_TUBGCP		0.373	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	protein_coding	OTTHUMT00000250998.2	A	NM_052903	-		22864212	1	no_errors	ENST00000283645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22864212	A	T	22864212	3	4	96	1	0	0	0	0	1	0	0	0	16776	295	11	5	2232	5	TUBGCP5	15	22864212	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09		22864212	79667180	57	5487											
VPS39	23339	genome.wustl.edu	37	chr15	42459092	42459092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccaggcgtagcaaggggGccaccagggccacatttgtc	13	13	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr15:42459092G>T	ENST00000348544.4	-	15	1429	c.1430C>A	c.(1429-1431)gCc>gAc	p.A477D	VPS39_ENST00000318006.5_Missense_Mutation_p.A466D			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	477					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TAGCAAGGGGGCCACCAGGGC	0.567																																																	0								ENSG00000166887						80	82	81					15																	42459092		2203	4299	6502	VPS39	SO:0001583	missense	0			-	HGNC	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1430C>A	15.37:g.42459092G>T	ENSP00000335193:p.Ala477Asp	Somatic	0	31	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP							pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.A477D	ENST00000348544.4	37	c.1430	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.122552	0.94429	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.46451	0.87;0.88	5.74	5.74	0.90152	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1 (1);	0.050485	0.85682	D	0.000000	T	0.46889	0.1416	L	0.46157	1.445	0.80722	D	1	P;P	0.43392	0.805;0.768	P;B	0.48089	0.566;0.43	T	0.12142	-1.0559	10	0.11182	T	0.66	-14.8212	20.2982	0.98569	0.0:0.0:1.0:0.0	.	477;466	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	D	466;477	ENSP00000326534:A466D;ENSP00000335193:A477D	ENSP00000326534:A466D	A	-	2	0	VPS39	40246384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GCC	-	pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat		0.567	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	protein_coding	OTTHUMT00000420472.1	G	NM_015289	-		42459092	-1	no_errors	ENST00000348544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42459092	G	T	42459092	3	4	96	1	0	0	0	0	1	0	0	0	17216	1203	42	3	1278	3	VPS39	15	42459092	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	19594880	42459092	60072300	58	5488											
PDCD7	10081	genome.wustl.edu	37	chr15	65425295	65425295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacacttcaccctccagcgGtcaatctcctgctcgcgttc	6	18	3	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr15:65425295G>T	ENST00000204549.4	-	1	879	c.825C>A	c.(823-825)gaC>gaA	p.D275E		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	275	Arg/Glu-rich.				apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CCCTCCAGCGGTCAATCTCCT	0.701																																																	0								ENSG00000090470						50	50	50					15																	65425295		2202	4299	6501	PDCD7	SO:0001583	missense	0			-	HGNC	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.825C>A	15.37:g.65425295G>T	ENSP00000204549:p.Asp275Glu	Somatic	0	35	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q96AK8|Q9Y6D7	Missense_Mutation	SNP							NULL	p.D275E	ENST00000204549.4	37	c.825	CCDS10201.1	15	.	.	.	.	.	.	.	.	.	.	g	15.26	2.781432	0.49891	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.44	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.78049	2.395	0.28921	N	0.892143	B	0.28998	0.23	B	0.27170	0.077	T	0.43956	-0.9359	9	0.48119	T	0.1	-2.9081	4.1242	0.10119	0.2406:0.1931:0.5664:0.0	.	275	Q8N8D1	PDCD7_HUMAN	E	275;60;69	.	ENSP00000204549:D275E	D	-	3	2	PDCD7	63212348	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.178000	0.31981	0.674000	0.31244	0.306000	0.20318	GAC	-	NULL		0.701	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD7	protein_coding	OTTHUMT00000256784.2	G	NM_005707	-		65425295	-1	no_errors	ENST00000204549	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65425295	G	T	65425295	3	4	96	1	0	0	0	0	1	0	0	0	11627	1252	44	3	652	3	PDCD7	15	65425295	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	22966203	65425295	37106097	59	5489											
MSLNL	401827	genome.wustl.edu	37	chr16	830643	830643	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtgtaggtgacagtgtGcacaggtaggtgacagctgt	16	7	0	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr16:830643G>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.H120N			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GTGACAGTGTGCACAGGTAGG	0.562																																																	0								ENSG00000162006						296	254	268					16																	830643		2190	4263	6453	MSLNL	SO:0001627	intron_variant	0			-	HGNC			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-481C>A	16.37:g.830643G>T		Somatic	0	49	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	14	65.85		Missense_Mutation	SNP							pfam_Mesothelin	p.H120N	ENST00000442466.1	37	c.358		16	.	.	.	.	.	.	.	.	.	.	G	6.832	0.522619	0.13066	.	.	ENSG00000162006	ENST00000293892	T	0.12465	2.68	1.43	-2.86	0.05717	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32824	-0.9892	5	.	.	.	.	4.6579	0.12628	0.337:0.2193:0.4437:0.0	.	.	.	.	N	120	ENSP00000293892:H120N	.	H	-	1	0	MSLNL	770644	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	1.246000	0.32803	-1.918000	0.01072	-0.533000	0.04299	CAC	-	NULL		0.562	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	protein_coding		G	NM_001025190	-		830643	-1	no_errors	ENST00000293892	ensembl	human	known	74_37	missense	SNP	0.150	T	T	830643	G	T	830643	1	4	96	0	1	0	0	0	0	0	0	0	9884	1319	46	3		3	MSLNL	16	830643	Intron	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		830643	89524110	60	5490											
TRAF7	84231	genome.wustl.edu	37	chr16	2215902	2215902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaatggaaacgaccttcgGacccgccttttcagccgtca	9	14	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr16:2215902G>T	ENST00000326181.6	+	3	236	c.104G>T	c.(103-105)gGa>gTa	p.G35V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	35					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACGACCTTCGGACCCGCCTTT	0.612																																																	0								ENSG00000131653						146	112	123					16																	2215902		2198	4300	6498	TRAF7	SO:0001583	missense	0			-	HGNC	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.104G>T	16.37:g.2215902G>T	ENSP00000318944:p.Gly35Val	Somatic	0	50	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q9H073	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G35V	ENST00000326181.6	37	c.104	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743988	0.69418	.	.	ENSG00000131653	ENST00000326181	T	0.27890	1.64	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	L	0.34521	1.04	0.80722	D	1	P	0.52463	0.953	P	0.51170	0.661	T	0.20273	-1.0280	10	0.87932	D	0	-28.1076	17.6526	0.88169	0.0:0.0:1.0:0.0	.	35	Q6Q0C0	TRAF7_HUMAN	V	35	ENSP00000318944:G35V	ENSP00000318944:G35V	G	+	2	0	TRAF7	2155903	1.000000	0.71417	0.389000	0.26208	0.549000	0.35272	8.206000	0.89745	2.431000	0.82371	0.455000	0.32223	GGA	-	NULL		0.612	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	protein_coding	OTTHUMT00000250762.1	G	NM_032271	-		2215902	1	no_errors	ENST00000326181	ensembl	human	known	74_37	missense	SNP	0.993	T	T	2215902	G	T	2215902	3	4	96	1	0	0	0	0	1	0	0	0	16453	1174	41	3	110	3	TRAF7	16	2215902	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	1385259	2215902	88138851	61	5491											
DNAH3	55567	genome.wustl.edu	37	chr16	21030952	21030952	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggttctaaattacctctttCtggaaagatgttgtttttgg	9	5	3	1	rs201663699		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr16:21030952C>A	ENST00000261383.3	-	41	6015	c.6016G>T	c.(6016-6018)Gaa>Taa	p.E2006*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2006					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)			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)		TTACCTCTTTCTGGAAAGATG	0.388																																																	0								ENSG00000158486						178	155	163					16																	21030952		2201	4300	6501	DNAH3	SO:0001587	stop_gained	0			-	HGNC	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.6016G>T	16.37:g.21030952C>A	ENSP00000261383:p.Glu2006*	Somatic	0	126	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E2006*	ENST00000261383.3	37	c.6016	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	46	12.227152	0.99648	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.72	5.72	0.89469	.	8.569490	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.8862	0.96913	0.0:1.0:0.0:0.0	.	.	.	.	X	2006	.	ENSP00000261383:E2006X	E	-	1	0	DNAH3	20938453	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.628000	0.61282	2.693000	0.91896	0.563000	0.77884	GAA	-	superfamily_P-loop_NTPase		0.388	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	C	NM_017539	-		21030952	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	21030952	C	A	21030952	4	1	96	1	0	0	0	0	0	1	0	0	4605	922	32	3	6421	3	DNAH3	16	21030952	Nonsense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	18815050	21030952	69323801	62	5492											
CALB2	794	genome.wustl.edu	37	chr16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-													agattgtgctctgcagcgagCcccccatgtaaagtggggac							TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)cccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6. {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)			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)				CTGCAGCGAGCCCCCCATGTA	0.587																																																	0								ENSG00000172137						69	69	69					16																	71423757		2198	4300	6498	CALB2	SO:0001589	frameshift_variant	0				HGNC	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.805delC	16.37:g.71423757delC	ENSP00000307508:p.Pro270fs	Somatic	0	36	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	A8K4Y1|Q53HD2|Q96BK4	Frame_Shift_Del	DEL							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.M271fs	ENST00000302628.4	37	c.805	CCDS10899.1	16																																																																																			-	NULL		0.587	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	protein_coding	OTTHUMT00000268988.1	C	NM_001740			71423757	1	no_errors	ENST00000302628	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	71423757	C	-	71423757	7	5	96	1	0	1	0	1	0	0	0	0	2576	739	26	0	847	0	CALB2	16	71423757	Frame_Shift_Del	DEL	C	TCGA-DX-A8BJ-01A-11D-A417-09	50392805	71423757	18930996	63	5493											
MYH1	4619	genome.wustl.edu	37	chr17	10405167	10405167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttaggtctccctctagtTttctctttgctctttctaga	5	10	5	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr17:10405167T>G	ENST00000226207.5	-	25	3267	c.3173A>C	c.(3172-3174)aAa>aCa	p.K1058T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1058					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCCTCTAGTTTTCTCTTTGC	0.338																																																	0								ENSG00000109061						96	78	84					17																	10405167		2202	4298	6500	MYH1	SO:0001583	missense	0			-	HGNC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3173A>C	17.37:g.10405167T>G	ENSP00000226207:p.Lys1058Thr	Somatic	0	80	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	Q14CA4|Q9Y622	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1058T	ENST00000226207.5	37	c.3173	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407677	0.83340	.	.	ENSG00000109061	ENST00000226207	D	0.95518	-3.73	5.62	5.62	0.85841	.	0.000000	0.45867	U	0.000324	D	0.98598	0.9531	H	0.97940	4.11	0.58432	D	0.999999	D	0.71674	0.998	D	0.67231	0.95	D	0.99758	1.1020	10	0.87932	D	0	.	16.1323	0.81449	0.0:0.0:0.0:1.0	.	1058	P12882	MYH1_HUMAN	T	1058	ENSP00000226207:K1058T	ENSP00000226207:K1058T	K	-	2	0	MYH1	10345892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.910000	0.87451	2.277000	0.76020	0.528000	0.53228	AAA	-	NULL		0.338	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	T	NM_005963	-		10405167	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10405167	T	G	10405167	3	3	96	1	0	0	0	0	1	0	0	0	10031	1841	64	5	2710	5	MYH1	17	10405167	Missense_Mutation	SNP	T	TCGA-DX-A8BJ-01A-11D-A417-09		10405167	70790043	64	5494											
MPP2	4355	genome.wustl.edu	37	chr17	41958094	41958094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagcgatctggatcccacAtgatgagcttgttcttcagg	10	10	3	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr17:41958094A>G	ENST00000461854.1	-	11	1272	c.1187T>C	c.(1186-1188)aTg>aCg	p.M396T	MPP2_ENST00000269095.4_Missense_Mutation_p.M372T|MPP2_ENST00000520305.1_Missense_Mutation_p.M233T|MPP2_ENST00000377184.3_Missense_Mutation_p.M389T|MPP2_ENST00000536246.1_Missense_Mutation_p.M361T|MPP2_ENST00000523501.1_Missense_Mutation_p.M361T|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.M417T			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	396	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGATCCCACATGATGAGCTT	0.652											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000108852						105	94	98					17																	41958094		2203	4300	6503	MPP2	SO:0001583	missense	0			-	HGNC		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1187T>C	17.37:g.41958094A>G	ENSP00000428286:p.Met396Thr	Somatic	0	14	0	905	0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.M396T	ENST00000461854.1	37	c.1187		17	.	.	.	.	.	.	.	.	.	.	a	5.523	0.281398	0.10458	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.02	3.94	0.45596	.	.	.	.	.	T	0.08758	0.0217	N	0.13003	0.285	0.28350	N	0.920944	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.006	T	0.37526	-0.9702	9	0.11794	T	0.64	.	6.7864	0.23675	0.8143:0.0:0.1857:0.0	.	417;389	E7EV80;Q14168-3	.;.	T	389;372;396;233;361;361;417	ENSP00000366389:M389T;ENSP00000269095:M372T;ENSP00000428286:M396T;ENSP00000428136:M233T;ENSP00000430540:M361T;ENSP00000438012:M361T;ENSP00000428182:M417T	ENSP00000269095:M372T	M	-	2	0	MPP2	39313620	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.437000	0.80417	0.874000	0.35823	0.397000	0.26171	ATG	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like		0.652	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	protein_coding	OTTHUMT00000258388.2	A	NM_005374	-		41958094	-1	no_errors	ENST00000461854	ensembl	human	known	74_37	missense	SNP	1.000	G	G	41958094	A	G	41958094	3	3	96	1	0	0	0	0	1	0	0	0	9736	217	8	5	559	5	MPP2	17	41958094	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	31552927	41958094	39237116	65	5495											
SCN4A	6329	genome.wustl.edu	37	chr17	62022882	62022882	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggtgttgatgcagtagtaGaacttgccggcaaacaggtt	14	6	0	2	rs147610324		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr17:62022882G>T	ENST00000435607.1	-	19	3634	c.3558C>A	c.(3556-3558)ttC>ttA	p.F1186L	SCN4A_ENST00000578147.1_Missense_Mutation_p.F1186L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1186					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCAGTAGTAGAACTTGCCGG	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19311	0		0	False		,,,				2504	0																0								ENSG00000007314						267	267	267					17																	62022882		2202	4300	6502	SCN4A	SO:0001583	missense	0			GMAF=0.0005	HGNC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3558C>A	17.37:g.62022882G>T	ENSP00000396320:p.Phe1186Leu	Somatic	0	38	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F1186L	ENST00000435607.1	37	c.3558	CCDS45761.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.4	4.524312	0.85600	.	.	ENSG00000007314	ENST00000435607	D	0.98120	-4.73	3.91	3.91	0.45181	Ion transport (1);	0.110120	0.64402	D	0.000005	D	0.96253	0.8778	M	0.75615	2.305	0.49687	D	0.999815	B	0.19935	0.04	B	0.22601	0.04	D	0.94964	0.8111	10	0.87932	D	0	.	9.2875	0.37766	0.0994:0.0:0.9006:0.0	.	1186	P35499	SCN4A_HUMAN	L	1186	ENSP00000396320:F1186L	ENSP00000396320:F1186L	F	-	3	2	SCN4A	59376614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.284000	0.51708	2.196000	0.70406	0.561000	0.74099	TTC	-	pfam_Ion_trans_dom		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		G	NM_000334	rs147610324		62022882	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62022882	G	T	62022882	3	4	96	1	0	0	0	0	1	0	0	0	13928	933	33	3	1976	3	SCN4A	17	62022882	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	20064788	62022882	19172328	66	5496											
ABCA8	10351	genome.wustl.edu	37	chr17	66877336	66877336	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccattgtgtcctaaTaatcctaaaacttcacctga	4	13	1	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr17:66877336T>C	ENST00000269080.2	-	30	3980	c.3843A>G	c.(3841-3843)ttA>ttG	p.L1281L	ABCA8_ENST00000586539.1_Silent_p.L1321L|ABCA8_ENST00000430352.2_Silent_p.L1321L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTGTCCTAATAATCCTAAAA	0.328																																																	0								ENSG00000141338						111	102	105					17																	66877336		2203	4299	6502	ABCA8	SO:0001819	synonymous_variant	0			-	HGNC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3843A>G	17.37:g.66877336T>C		Somatic	0	78	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	A1L3U3|C9JQE6|Q86WW0	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1321	ENST00000269080.2	37	c.3963	CCDS11680.1	17																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	protein_coding	OTTHUMT00000450172.1	T	NM_007168	-		66877336	-1	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	SNP	0.993	C	C	66877336	T	C	66877336	2	2	96	1	0	0	0	0	0	0	0	1	38	1403	49	5		5	ABCA8	17	66877336	Silent	SNP	T	TCGA-DX-A8BJ-01A-11D-A417-09	4854454	66877336	14317874	67	5497											
SLC38A10	124565	genome.wustl.edu	37	chr17	79226885	79226885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcaccttgcccagggcGatcgagctgtgcctcctccg	11	18	0	0	rs142761487		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr17:79226885G>A	ENST00000374759.3	-	12	1827	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	SLC38A10_ENST00000288439.5_Missense_Mutation_p.R482C	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	482					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCCCAGGGCGATCGAGCTGT	0.687											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000157637		CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	68	77	74		1444,1444	4.7	1	17	dbSNP_134	74	0,8600		0,0,4300	no	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	482/1120,482/781	79226885	1,13005	2203	4300	6503	SLC38A10	SO:0001583	missense	0			-	HGNC	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1444C>T	17.37:g.79226885G>A	ENSP00000363891:p.Arg482Cys	Somatic	0	55	0	1189	0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	16	66.67	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.R482C	ENST00000374759.3	37	c.1444	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025372	0.35701	2.27E-4	0.0	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.19938	2.2;2.11	4.69	4.69	0.59074	.	0.382817	0.26646	N	0.023231	T	0.21801	0.0525	L	0.54323	1.7	0.80722	D	1	P;B	0.34546	0.456;0.128	B;B	0.24701	0.055;0.017	T	0.07908	-1.0748	10	0.62326	D	0.03	-33.2671	17.4176	0.87505	0.0:0.0:1.0:0.0	.	482;482	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	C	482	ENSP00000363891:R482C;ENSP00000288439:R482C	ENSP00000288439:R482C	R	-	1	0	SLC38A10	76841480	1.000000	0.71417	0.967000	0.41034	0.031000	0.12232	7.415000	0.80131	2.440000	0.82611	0.500000	0.49745	CGC	-	NULL		0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	protein_coding	OTTHUMT00000397747.1	G	NM_138570	rs142761487		79226885	-1	no_errors	ENST00000374759	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79226885	G	A	79226885	3	1	96	1	0	0	0	0	1	0	0	0	14610	1058	37	1	2213	1	SLC38A10	17	79226885	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	12349549	79226885	1968325	68	5498											
SMCHD1	23347	genome.wustl.edu	37	chr18	2740716	2740727	+	In_Frame_Del	DEL	ATCAGTACGGAA	ATCAGTACGGAA	-													tttagttataataattacagAtcagtacggaaatcagattc					rs372029124		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	ATCAGTACGGAA	ATCAGTACGGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr18:2740716_2740727delATCAGTACGGAA	ENST00000320876.6	+	28	3868_3879	c.3530_3541delATCAGTACGGAA	c.(3529-3543)gatcagtacggaaat>gat	p.QYGN1178del	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_In_Frame_Del_p.QYGN1178del	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1178					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						ATAATTACAGATCAGTACGGAAATCAGATTCA	0.297																																																	0								ENSG00000101596																																			SMCHD1	SO:0001651	inframe_deletion	0				HGNC	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.3530_3541delATCAGTACGGAA	18.37:g.2740716_2740727delATCAGTACGGAA	ENSP00000326603:p.Gln1178_Asn1181del	Somatic					0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	In_Frame_Del	DEL							pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge	p.YGNQ1179in_frame_del	ENST00000320876.6	37	c.3530_3541	CCDS45822.1	18																																																																																			-	NULL		0.297	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	protein_coding	OTTHUMT00000441082.2	ATCAGTACGGAA				2740727	1	no_errors	ENST00000320876	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	2740727	ATCAGTACGGAA	-	2740716	7	5	96	1	0	1	0	1	0	0	0	0	14796	333	12	0	3640	0	SMCHD1	18	2740716	In_Frame_Del	DEL	ATCAGTACGGAA	TCGA-DX-A8BJ-01A-11D-A417-09		2740716	75336532	69	5499											
DLGAP1	9229	genome.wustl.edu	37	chr18	3879946	3879946	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagtatgggtggtctgcGgggtggtgctccactgggct	19	7	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr18:3879946G>T	ENST00000315677.3	-	4	718	c.123C>A	c.(121-123)ccC>ccA	p.P41P	DLGAP1_ENST00000515196.2_Silent_p.P41P|DLGAP1_ENST00000584874.1_Silent_p.P41P|DLGAP1_ENST00000581527.1_Silent_p.P41P|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	41					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGTGGTCTGCGGGGTGGTGCT	0.677																																																	0								ENSG00000170579						57	56	57					18																	3879946		2203	4300	6503	DLGAP1	SO:0001819	synonymous_variant	0			-	HGNC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.123C>A	18.37:g.3879946G>T		Somatic	0	67	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP							pfam_GKAP	p.P41	ENST00000315677.3	37	c.123	CCDS11836.1	18																																																																																			-	NULL		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	protein_coding	OTTHUMT00000254394.4	G		-		3879946	-1	no_errors	ENST00000315677	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3879946	G	T	3879946	2	4	96	1	0	0	0	0	0	0	0	1	4561	1103	39	3		3	DLGAP1	18	3879946	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	1139230	3879946	74197302	70	5500											
PLIN5	440503	genome.wustl.edu	37	chr19	4523577	4523577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagggtgtgcttgaccGggcagctgggggtctcgggt	19	9	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:4523577G>A	ENST00000381848.3	-	8	1435	c.1355C>T	c.(1354-1356)cCg>cTg	p.P452L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	452	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.|Recruits mitochondria at the lipid droplet surface. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTGCTTGACCGGGCAGCTGGG	0.672											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000214456						62	71	68					19																	4523577		2031	4178	6209	PLIN5	SO:0001583	missense	0			-	HGNC	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1355C>T	19.37:g.4523577G>A	ENSP00000371272:p.Pro452Leu	Somatic	0	73	0	619	0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51	A2RRC1|Q6ZS68	Missense_Mutation	SNP							pfam_Perilipin,pirsf_Perilipin	p.P452L	ENST00000381848.3	37	c.1355	CCDS42473.1	19	.	.	.	.	.	.	.	.	.	.	G	9.943	1.218098	0.22373	.	.	ENSG00000214456	ENST00000381848	T	0.10960	2.82	4.69	-0.619	0.11572	.	0.510052	0.16761	U	0.200603	T	0.05318	0.0141	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31503	-0.9941	10	0.66056	D	0.02	-6.0239	1.9882	0.03441	0.1117:0.14:0.3039:0.4443	.	452	Q00G26	PLIN5_HUMAN	L	452	ENSP00000371272:P452L	ENSP00000371272:P452L	P	-	2	0	PLIN5	4474577	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.128000	0.15810	0.315000	0.23110	0.561000	0.74099	CCG	-	NULL		0.672	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	protein_coding	OTTHUMT00000458647.1	G	NM_001013706	-		4523577	-1	no_errors	ENST00000381848	ensembl	human	known	74_37	missense	SNP	0.000	A	A	4523577	G	A	4523577	3	1	96	1	0	0	0	0	1	0	0	0	12095	1116	39	1	40	1	PLIN5	19	4523577	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		4523577	54605406	71	5501											
OR2Z1	284383	genome.wustl.edu	37	chr19	8841961	8841961	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactgaagctctcctgtgcaGatacctgtgcctacgagatg	10	11	1	3	rs374555313	byFrequency	TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:8841961G>T	ENST00000324060.2	+	1	646	c.571G>T	c.(571-573)Gat>Tat	p.D191Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	191						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(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCTGTGCAGATACCTGTGC	0.572																																																	0								ENSG00000181733						156	140	145					19																	8841961		2203	4300	6503	OR2Z1	SO:0001583	missense	0			-	HGNC	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.571G>T	19.37:g.8841961G>T	ENSP00000316284:p.Asp191Tyr	Somatic	0	30	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D191Y	ENST00000324060.2	37	c.571	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557671	0.27827	.	.	ENSG00000181733	ENST00000324060	T	0.00267	8.38	4.56	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.084785	0.50627	D	0.000101	T	0.00608	0.0020	M	0.89287	3.02	0.30280	N	0.791428	D	0.89917	1.0	D	0.83275	0.996	T	0.05699	-1.0869	10	0.87932	D	0	.	10.8802	0.46933	0.0942:0.0:0.9058:0.0	.	191	Q8NG97	OR2Z1_HUMAN	Y	191	ENSP00000316284:D191Y	ENSP00000316284:D191Y	D	+	1	0	OR2Z1	8702961	0.792000	0.28813	0.601000	0.28877	0.003000	0.03518	2.298000	0.43602	1.077000	0.40990	-0.287000	0.09952	GAT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.572	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	protein_coding	OTTHUMT00000459954.1	G		-		8841961	1	no_errors	ENST00000324060	ensembl	human	known	74_37	missense	SNP	0.984	T	T	8841961	G	T	8841961	3	4	96	1	0	0	0	0	1	0	0	0	11038	942	33	3	573	3	OR2Z1	19	8841961	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	4318384	8841961	50287022	72	5502											
ZNF529	57711	genome.wustl.edu	37	chr19	37038807	37038807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccagtatgaatattcAgttgtaacatactggagtta	7	7	2	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:37038807A>G	ENST00000591340.1	-	5	811	c.653T>C	c.(652-654)cTg>cCg	p.L218P	ZNF529_ENST00000334116.7_Missense_Mutation_p.L113P	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	218					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	Esophageal squamous(110;0.198)					ATGAATATTCAGTTGTAACAT	0.294																																																	0								ENSG00000186020						60	57	58					19																	37038807		1824	4081	5905	ZNF529	SO:0001583	missense	0			-	HGNC	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.653T>C	19.37:g.37038807A>G	ENSP00000465578:p.Leu218Pro	Somatic	0	33	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L218P	ENST00000591340.1	37	c.653	CCDS54256.1	19	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934156	0.73442	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.68	1.37	0.22104	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	L	0.55990	1.75	0.43896	D	0.996524	B;B	0.20988	0.05;0.03	B;B	0.24394	0.053;0.014	T	0.47368	-0.9123	8	0.72032	D	0.01	.	3.1013	0.06327	0.4584:0.0:0.1325:0.409	.	113;185	Q6P280-2;Q6P280	.;ZN529_HUMAN	P	218	.	ENSP00000334695:L218P	L	-	2	0	ZNF529	41730647	.	.	0.041000	0.18516	0.942000	0.58702	.	.	0.494000	0.27859	0.482000	0.46254	CTG	-	pfscan_Znf_C2H2		0.294	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	protein_coding	OTTHUMT00000452730.1	A	NM_020951	-		37038807	-1	no_errors	ENST00000591340	ensembl	human	known	74_37	missense	SNP	0.995	G	G	37038807	A	G	37038807	3	3	96	1	0	0	0	0	1	0	0	0	17977	188	7	5	1042	5	ZNF529	19	37038807	Missense_Mutation	SNP	A	TCGA-DX-A8BJ-01A-11D-A417-09	28196846	37038807	22090176	73	5503											
FCGBP	8857	genome.wustl.edu	37	chr19	40396215	40396215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggtagtagcggtcatcGtggaggcagccacactggcc	16	10	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:40396215G>A	ENST00000221347.6	-	15	7189	c.7182C>T	c.(7180-7182)caC>caT	p.H2394H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2394	Cys-rich.					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)			AGCGGTCATCGTGGAGGCAGC	0.642																																																	0								ENSG00000090920						2	2	2					19																	40396215		1206	2255	3461	FCGBP	SO:0001819	synonymous_variant	0			-	HGNC	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.7182C>T	19.37:g.40396215G>A		Somatic	0	16	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	O95784	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.H2394	ENST00000221347.6	37	c.7182	CCDS12546.1	19																																																																																			-	smart_VWC_out,smart_VWF_C		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890	-		40396215	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	SNP	0.017	A	A	40396215	G	A	40396215	2	1	96	1	0	0	0	0	0	0	0	1	5780	1136	40	1		1	FCGBP	19	40396215	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	3357408	40396215	18732768	74	5504											
ZNF600	162966	genome.wustl.edu	37	chr19	53270247	53270247	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggctgaattttgaccaaaGatcttgccacactcattaca	7	10	2	3			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:53270247G>A	ENST00000338230.3	-	3	1029	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	254					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTTGACCAAAGATCTTGCCAC	0.383																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								ENSG00000189190						161	153	156					19																	53270247		2203	4300	6503	ZNF600	SO:0001819	synonymous_variant	0			-	HGNC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.762C>T	19.37:g.53270247G>A		Somatic	0	76	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	96	10.28	Q6MZR0	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I254	ENST00000338230.3	37	c.762	CCDS12856.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	G	NM_198457	-		53270247	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	silent	SNP	0.039	A	A	53270247	G	A	53270247	2	1	96	1	0	0	0	0	0	0	0	1	18037	932	33	2		2	ZNF600	19	53270247	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	12874032	53270247	5858736	75	5505			1	59		4	4	323	G		1.222808e-10
ZNF600	162966	genome.wustl.edu	37	chr19	53270275	53270275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacactcattacacttgtgaGattttactgcagtgtgaagt	8	8	1	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:53270275G>A	ENST00000338230.3	-	3	1001	c.734C>T	c.(733-735)tCt>tTt	p.S245F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	245					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACACTTGTGAGATTTTACTGC	0.398																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								ENSG00000189190						171	163	165					19																	53270275		2203	4300	6503	ZNF600	SO:0001583	missense	0			-	HGNC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.734C>T	19.37:g.53270275G>A	ENSP00000344791:p.Ser245Phe	Somatic	0	84	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	85	9.57	Q6MZR0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S245F	ENST00000338230.3	37	c.734	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	9.594	1.126887	0.20959	.	.	ENSG00000189190	ENST00000338230	T	0.60672	0.17	1.58	1.58	0.23477	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52386	0.1731	L	0.33093	0.98	0.09310	N	1	P	0.52577	0.954	P	0.48952	0.596	T	0.45131	-0.9282	9	0.87932	D	0	.	10.1465	0.42767	0.0:0.0:1.0:0.0	.	245	Q6ZNG1	ZN600_HUMAN	F	245	ENSP00000344791:S245F	ENSP00000344791:S245F	S	-	2	0	ZNF600	57962087	0.004000	0.15560	0.006000	0.13384	0.026000	0.11368	1.341000	0.33907	0.883000	0.36040	0.306000	0.20318	TCT	-	pfscan_Znf_C2H2		0.398	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	G	NM_198457	-		53270275	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	SNP	0.019	A	A	53270275	G	A	53270275	3	1	96	1	0	0	0	0	1	0	0	0	18037	942	33	2	1438	2	ZNF600	19	53270275	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	28	53270275	5858708	76	5506			1	59		4	4	323	G		1.222808e-10
ZNF600	162966	genome.wustl.edu	37	chr19	53270527	53270527	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactctcattacattggaaaGatttttctctcatgtatact	4	9	3	1			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:53270527G>A	ENST00000338230.3	-	3	749	c.482C>T	c.(481-483)tCt>tTt	p.S161F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	161					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACATTGGAAAGATTTTTCTCT	0.368																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								ENSG00000189190						119	127	124					19																	53270527		2203	4300	6503	ZNF600	SO:0001583	missense	0			-	HGNC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.482C>T	19.37:g.53270527G>A	ENSP00000344791:p.Ser161Phe	Somatic	0	133	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	102	10.43	Q6MZR0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S161F	ENST00000338230.3	37	c.482	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	11.84	1.757357	0.31137	.	.	ENSG00000189190	ENST00000338230	T	0.15372	2.43	1.57	0.433	0.16534	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35038	0.0918	M	0.72894	2.215	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.09729	-1.0661	9	0.72032	D	0.01	.	6.769	0.23583	0.1667:0.0:0.8333:0.0	.	161	Q6ZNG1	ZN600_HUMAN	F	161	ENSP00000344791:S161F	ENSP00000344791:S161F	S	-	2	0	ZNF600	57962339	0.056000	0.20664	0.006000	0.13384	0.126000	0.20510	2.228000	0.42981	0.024000	0.15214	0.298000	0.19748	TCT	-	NULL		0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	G	NM_198457	-		53270527	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	SNP	0.003	A	A	53270527	G	A	53270527	3	1	96	1	0	0	0	0	1	0	0	0	18037	942	33	2	1690	2	ZNF600	19	53270527	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	252	53270527	5858456	77	5507			1	59		4	4	323	G		1.222808e-10
ZNF600	162966	genome.wustl.edu	37	chr19	53270569	53270569	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgtttttgtgggagtagtGaagaattcggggaattattc	13	4	0	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:53270569G>A	ENST00000338230.3	-	3	707	c.440C>T	c.(439-441)tCa>tTa	p.S147L		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	147					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGGGAGTAGTGAAGAATTCGG	0.393																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								ENSG00000189190						111	117	115					19																	53270569		2202	4300	6502	ZNF600	SO:0001583	missense	0			-	HGNC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.440C>T	19.37:g.53270569G>A	ENSP00000344791:p.Ser147Leu	Somatic	0	111	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	89	9.18	Q6MZR0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S147L	ENST00000338230.3	37	c.440	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	10.86	1.469878	0.26423	.	.	ENSG00000189190	ENST00000338230	T	0.17854	2.25	1.15	1.15	0.20763	.	.	.	.	.	T	0.45438	0.1342	M	0.94063	3.49	0.09310	N	1	D	0.54601	0.967	D	0.63597	0.916	T	0.19614	-1.0300	9	0.62326	D	0.03	.	8.2416	0.31662	0.0:0.0:1.0:0.0	.	147	Q6ZNG1	ZN600_HUMAN	L	147	ENSP00000344791:S147L	ENSP00000344791:S147L	S	-	2	0	ZNF600	57962381	0.086000	0.21541	0.002000	0.10522	0.018000	0.09664	0.124000	0.15728	0.979000	0.38497	0.298000	0.19748	TCA	-	NULL		0.393	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	G	NM_198457	-		53270569	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	SNP	0.003	A	A	53270569	G	A	53270569	3	1	96	1	0	0	0	0	1	0	0	0	18037	1294	45	2	1732	2	ZNF600	19	53270569	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	42	53270569	5858414	78	5508			1	59		4	4	323	G		1.222808e-10
ZSCAN1	284312	genome.wustl.edu	37	chr19	58549417	58549417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgaggcccgaggcGcgctccaaggagcagatgct	16	12	0	2	rs143287637	byFrequency	TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:58549417G>A	ENST00000282326.1	+	3	460	c.213G>A	c.(211-213)gcG>gcA	p.A71A	ZSCAN1_ENST00000601162.1_Silent_p.A71A|ZSCAN1_ENST00000391700.1_Silent_p.A71A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	71	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCGAGGCGCGCTCCAAGG	0.701													G|||	2	0.000399361	8e-04	0	5008	,	,		10866	0		0.001	False		,,,				2504	0																0								ENSG00000152467	G		2,4366		0,2,2182	15	15	15		213	-4.2	0	19	dbSNP_134	15	0,8512		0,0,4256	no	coding-synonymous	ZSCAN1	NM_182572.3		0,2,6438	AA,AG,GG		0.0,0.0458,0.0155		71/409	58549417	2,12878	2184	4256	6440	ZSCAN1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.213G>A	19.37:g.58549417G>A		Somatic	0	29	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	Q3B798|Q6WLH8|Q86WS8	Silent	SNP							pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A71	ENST00000282326.1	37	c.213	CCDS12969.1	19																																																																																			-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	protein_coding	OTTHUMT00000466427.1	G	NM_182572	rs143287637		58549417	1	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	SNP	0.000	A	A	58549417	G	A	58549417	2	1	96	1	0	0	0	0	0	0	0	1	18233	1074	38	1		1	ZSCAN1	19	58549417	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	5278848	58549417	579566	79	5509											
ZNF324B	388569	genome.wustl.edu	37	chr19	58967100	58967100	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaatgcagggcgtgcagCaaagtgttcgtgaagagctc	14	8	0	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr19:58967100C>G	ENST00000336614.4	+	4	896	c.789C>G	c.(787-789)agC>agG	p.S263R	ZNF324B_ENST00000545523.1_Missense_Mutation_p.S263R|ZNF324B_ENST00000391696.1_Missense_Mutation_p.S253R	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	263					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(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)		GGGCGTGCAGCAAAGTGTTCG	0.642																																																	0								ENSG00000249471						25	21	23					19																	58967100		2200	4292	6492	ZNF324B	SO:0001583	missense	0			-	HGNC	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.789C>G	19.37:g.58967100C>G	ENSP00000337473:p.Ser263Arg	Somatic	0	25	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S263R	ENST00000336614.4	37	c.789	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	c	12.38	1.919718	0.33908	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07800	3.16;3.16;3.16	3.09	-0.998	0.10212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.756258	0.11809	N	0.527374	T	0.03827	0.0108	N	0.16790	0.44	0.09310	N	1	P;B	0.45902	0.868;0.009	B;B	0.36666	0.23;0.004	T	0.37056	-0.9722	10	0.66056	D	0.02	.	3.4702	0.07565	0.1405:0.5101:0.2388:0.1105	.	263;253	Q6AW86;C9JTQ8	Z324B_HUMAN;.	R	263;263;253	ENSP00000337473:S263R;ENSP00000438930:S263R;ENSP00000375578:S253R	ENSP00000337473:S263R	S	+	3	2	ZNF324B	63658912	0.026000	0.19158	0.003000	0.11579	0.852000	0.48524	-0.861000	0.04268	-0.133000	0.11537	-1.579000	0.00862	AGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.642	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	C	NM_207395	-		58967100	1	no_errors	ENST00000336614	ensembl	human	known	74_37	missense	SNP	0.063	G	G	58967100	C	G	58967100	3	3	96	1	0	0	0	0	1	0	0	0	17852	709	25	4	799	4	ZNF324B	19	58967100	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	417683	58967100	161883	80	5510											
DTD1	92675	genome.wustl.edu	37	chr20	18576785	18576785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctgaagggaaacaaGcctgatttccacctagcaat	9	10	0	2			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr20:18576785G>T	ENST00000377452.3	+	3	450	c.270G>T	c.(268-270)aaG>aaT	p.K90N	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	90					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						AGGGAAACAAGCCTGATTTCC	0.517																																																	0								ENSG00000125821						112	93	100					20																	18576785		2203	4300	6503	DTD1	SO:0001583	missense	0			-	HGNC	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"chromosome 20 open reading frame 88", "D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.270G>T	20.37:g.18576785G>T	ENSP00000366672:p.Lys90Asn	Somatic	0	36	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP							pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls	p.K90N	ENST00000377452.3	37	c.270	CCDS13138.1	20	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340731	0.81911	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	4.87	0.63330	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90770	0.4671	9	0.87932	D	0	-5.0136	14.441	0.67318	0.0719:0.0:0.9281:0.0	.	90	Q8TEA8	DTD1_HUMAN	N	90	.	ENSP00000366672:K90N	K	+	3	2	DTD1	18524785	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.693000	0.47027	2.741000	0.93983	0.655000	0.94253	AAG	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls		0.517	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD1	protein_coding	OTTHUMT00000078189.3	G	NM_080820	-		18576785	1	no_errors	ENST00000377452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18576785	G	T	18576785	3	4	96	1	0	0	0	0	1	0	0	0	4788	962	34	3	280	3	DTD1	20	18576785	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		18576785	44448735	81	5511											
CSE1L	1434	genome.wustl.edu	37	chr20	47712900	47712900	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtaggttccatcaatggtGagcaccagcctgaatgcaga	11	9	1	3			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr20:47712900G>T	ENST00000262982.2	+	25	2964	c.2841G>T	c.(2839-2841)gtG>gtT	p.V947V	CSE1L_ENST00000396192.3_Silent_p.V891V|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Silent_p.V730V	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	947					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CATCAATGGTGAGCACCAGCC	0.502																																																	0								ENSG00000124207						138	111	120					20																	47712900		2203	4300	6503	CSE1L	SO:0001819	synonymous_variant	0			-	HGNC	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2841G>T	20.37:g.47712900G>T		Somatic	0	47	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP							pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V947	ENST00000262982.2	37	c.2841	CCDS13412.1	20																																																																																			-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold		0.502	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	protein_coding	OTTHUMT00000080345.2	G	NM_001316	-		47712900	1	no_errors	ENST00000262982	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47712900	G	T	47712900	2	4	96	1	0	0	0	0	0	0	0	1	3932	1277	45	3		3	CSE1L	20	47712900	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	29136115	47712900	15312620	82	5512											
HSPA13	6782	genome.wustl.edu	37	chr21	15746041	15746041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttggatagccactcccGttactactgctaggtcaggg	11	12	1	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr21:15746041G>A	ENST00000285667.3	-	5	1380	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	HSPA13_ENST00000544452.1_Missense_Mutation_p.T230M	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	438						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						AGCCACTCCCGTTACTACTGC	0.468																																																	0								ENSG00000155304						70	70	70					21																	15746041		2203	4300	6503	HSPA13	SO:0001583	missense	0			-	HGNC		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.1313C>T	21.37:g.15746041G>A	ENSP00000285667:p.Thr438Met	Somatic	0	45	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	B2R616|Q8NE40	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.T438M	ENST00000285667.3	37	c.1313	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586672	0.46110	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.09350	2.99;2.99	5.65	5.65	0.86999	.	0.131888	0.64402	D	0.000002	T	0.05318	0.0141	N	0.03253	-0.375	0.58432	D	0.999999	P	0.48350	0.909	B	0.38842	0.283	T	0.37454	-0.9705	10	0.72032	D	0.01	-16.643	12.9281	0.58272	0.115:0.0:0.885:0.0	.	438	P48723	HSP13_HUMAN	M	438;230	ENSP00000285667:T438M;ENSP00000441986:T230M	ENSP00000285667:T438M	T	-	2	0	HSPA13	14667912	0.998000	0.40836	0.987000	0.45799	0.961000	0.63080	2.509000	0.45459	2.829000	0.97493	0.655000	0.94253	ACG	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.468	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	protein_coding	OTTHUMT00000157815.1	G		-		15746041	-1	no_errors	ENST00000285667	ensembl	human	known	74_37	missense	SNP	0.995	A	A	15746041	G	A	15746041	3	1	96	1	0	0	0	0	1	0	0	0	7408	1145	40	1	106	1	HSPA13	21	15746041	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		15746041	32383854	83	5513											
SLC5A1	6523	genome.wustl.edu	37	chr22	32498162	32498162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgccattatcctcttcGccatttctttcatcaccatc	2	15	4	0			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chr22:32498162G>A	ENST00000266088.4	+	13	1853	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	SLC5A1_ENST00000543737.1_Missense_Mutation_p.A408T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	535					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TATCCTCTTCGCCATTTCTTT	0.488																																																	0								ENSG00000100170						400	310	340					22																	32498162		2203	4300	6503	SLC5A1	SO:0001583	missense	0			-	HGNC		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1603G>A	22.37:g.32498162G>A	ENSP00000266088:p.Ala535Thr	Somatic	0	48	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	7	80.00	B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A535T	ENST00000266088.4	37	c.1603	CCDS13902.1	22	.	.	.	.	.	.	.	.	.	.	G	3.414	-0.119540	0.06838	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	T;T	0.79352	-1.26;-1.26	5.75	0.096	0.14488	.	1.516990	0.03493	N	0.216936	T	0.59088	0.2168	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40194	-0.9576	10	0.13853	T	0.58	.	4.961	0.14066	0.3456:0.0:0.5236:0.1308	.	535	P13866	SC5A1_HUMAN	T	535;408	ENSP00000266088:A535T;ENSP00000444898:A408T	ENSP00000266088:A535T	A	+	1	0	SLC5A1	30828162	0.976000	0.34144	0.014000	0.15608	0.026000	0.11368	1.918000	0.40006	-0.109000	0.12044	-0.126000	0.14955	GCC	-	NULL		0.488	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	protein_coding	OTTHUMT00000075656.3	G	NM_000343	-		32498162	1	no_errors	ENST00000266088	ensembl	human	known	74_37	missense	SNP	0.061	A	A	32498162	G	A	32498162	3	1	96	1	0	0	0	0	1	0	0	0	14669	1087	38	1	1653	1	SLC5A1	22	32498162	Missense_Mutation	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09		32498162	18806404	84	5514											
CCNB3	85417	genome.wustl.edu	37	chrX	50055541	50055541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatttctaagcagataaCcccacgggaagatattgatg	11	7	1	4			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chrX:50055541C>T	ENST00000376042.1	+	7	3630	c.3332C>T	c.(3331-3333)aCc>aTc	p.T1111I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.T1111I|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1111					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAGCAGATAACCCCACGGGAA	0.388																																																	0								ENSG00000147082						156	142	147					X																	50055541		2203	4300	6503	CCNB3	SO:0001583	missense	0			-	HGNC	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3332C>T	X.37:g.50055541C>T	ENSP00000365210:p.Thr1111Ile	Somatic	0	34	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP							pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.T1111I	ENST00000376042.1	37	c.3332	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	4.036	0.004200	0.07866	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.18338	2.22;2.22	4.97	-0.029	0.13920	.	3.304510	0.01173	N	0.006910	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.08055	0.003;0.001	T	0.21484	-1.0244	9	.	.	.	.	4.8746	0.13650	0.1372:0.4558:0.0:0.4069	.	1111;1111	A8K8T9;Q8WWL7	.;CCNB3_HUMAN	I	1111	ENSP00000365210:T1111I;ENSP00000276014:T1111I	.	T	+	2	0	CCNB3	50072281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.559000	0.05971	-0.560000	0.06102	-0.197000	0.12766	ACC	-	NULL		0.388	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	protein_coding	OTTHUMT00000056558.1	C		-		50055541	1	no_errors	ENST00000276014	ensembl	human	known	74_37	missense	SNP	0.003	T	T	50055541	C	T	50055541	3	4	96	1	0	0	0	0	1	0	0	0	2916	507	18	2	3350	2	CCNB3	23	50055541	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09		50055541	105215019	85	5515											
BTK	695	genome.wustl.edu	37	chrX	100611813	100611813	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaattcatcttcagacatGgagccttctttgatcatctt	6	9	6	3			TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chrX:100611813G>T	ENST00000308731.7	-	14	1471	c.1308C>A	c.(1306-1308)tcC>tcA	p.S436S	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCAGACATGGAGCCTTCTT	0.448									Agammaglobulinemia, X-linked																																								0								ENSG00000010671						290	246	261					X																	100611813		2203	4300	6503	BTK	SO:0001819	synonymous_variant	0	Familial Cancer Database	Bruton Type Agammaglobulinemia	-	HGNC	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1308C>A	X.37:g.100611813G>T		Somatic	0	43	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B2RAW1|Q32ML5	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.S436	ENST00000308731.7	37	c.1308	CCDS14482.1	X																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	protein_coding	OTTHUMT00000057532.2	G	NM_000061	-		100611813	-1	no_errors	ENST00000308731	ensembl	human	known	74_37	silent	SNP	1.000	T	T	100611813	G	T	100611813	2	4	96	1	0	0	0	0	0	0	0	1	1559	1335	47	3		3	BTK	23	100611813	Silent	SNP	G	TCGA-DX-A8BJ-01A-11D-A417-09	50556272	100611813	54658747	86	5516											
PASD1	139135	genome.wustl.edu	37	chrX	150840063	150840063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagccaaacacattaCgccacgttgtcattcctgat	7	12	1	2	rs201707889		TCGA-DX-A8BJ-01A-11D-A417-09	TCGA-DX-A8BJ-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55a38ea9-871b-482d-9404-6ac02887e21d	bfc943c3-2cf7-44cf-ba20-26d7646ae59e	g.chrX:150840063C>T	ENST00000370357.4	+	13	1494	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	417						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R417C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACATTACGCCACGTTGT	0.498																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000166049	C	CYS/ARG	0,3835		0,0,1632,571	216	171	186		1249	-5.2	0	X		186	1,6727		0,1,2427,1872	yes	missense	PASD1	NM_173493.2	180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	417/774	150840063	1,10562	2203	4300	6503	PASD1	SO:0001583	missense	0			-	HGNC	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1249C>T	X.37:g.150840063C>T	ENSP00000359382:p.Arg417Cys	Somatic	0	17	0		0.593685189362582				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	2	81.82	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP							superfamily_PAS,smart_PAS,pfscan_PAS	p.R417C	ENST00000370357.4	37	c.1249	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	3.252	-0.153046	0.06585	0.0	1.49E-4	ENSG00000166049	ENST00000370357	T	0.19250	2.16	3.29	-5.21	0.02815	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.23940	-1.0174	9	0.38643	T	0.18	-28.8384	1.7157	0.02901	0.1165:0.3389:0.2296:0.315	.	417	Q8IV76	PASD1_HUMAN	C	417	ENSP00000359382:R417C	ENSP00000359382:R417C	R	+	1	0	PASD1	150590719	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.494000	0.02296	-2.249000	0.00702	-2.831000	0.00106	CGC	-	NULL		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	protein_coding	OTTHUMT00000060879.2	C	NM_173493	rs201707889		150840063	1	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	SNP	0.000	T	T	150840063	C	T	150840063	3	4	96	1	0	0	0	0	1	0	0	0	11473	536	19	1	1295	1	PASD1	23	150840063	Missense_Mutation	SNP	C	TCGA-DX-A8BJ-01A-11D-A417-09	50228250	150840063	4430497	87	5517											
UTS2	10911	genome.wustl.edu	37	chr1	7910965	7910965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagctcctccggagttaagcGcgcgtcttcatgaggtgcta	12	11	2	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:7910965G>T	ENST00000361696.5	-	2	152	c.121C>A	c.(121-123)Cgc>Agc	p.R41S	UTS2_ENST00000054668.5_Missense_Mutation_p.R56S|UTS2_ENST00000377516.2_Missense_Mutation_p.R41S	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	41					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)		GGAGTTAAGCGCGCGTCTTCA	0.458																																																	0								ENSG00000049247						93	92	92					1																	7910965		2203	4300	6503	UTS2	SO:0001583	missense	0			-	HGNC	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	ENST00000361696.5:c.121C>A	1.37:g.7910965G>T	ENSP00000355163:p.Arg41Ser	Somatic	0	74	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q5H8X7|Q6UXF6|Q9UKP7	Missense_Mutation	SNP							pfam_Urotensin_II	p.R56S	ENST00000361696.5	37	c.166	CCDS91.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731153	0.30684	.	.	ENSG00000049247	ENST00000377516;ENST00000400910;ENST00000361696;ENST00000054668	T;T;T	0.37058	1.22;1.32;1.29	5.5	-3.66	0.04489	.	0.776441	0.12281	N	0.482892	T	0.24044	0.0582	L	0.47716	1.5	0.09310	N	1	P;B;P	0.35272	0.493;0.135;0.493	B;B;B	0.31290	0.127;0.06;0.127	T	0.08638	-1.0712	10	0.42905	T	0.14	-0.369	7.0805	0.25229	0.0:0.2115:0.4513:0.3372	.	56;41;41	O95399-2;O95399;Q5H8X8	.;UTS2_HUMAN;.	S	41;41;41;56	ENSP00000366738:R41S;ENSP00000355163:R41S;ENSP00000054668:R56S	ENSP00000054668:R56S	R	-	1	0	UTS2	7833552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.029000	0.12329	-0.849000	0.04158	-0.271000	0.10264	CGC	-	NULL		0.458	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2	protein_coding	OTTHUMT00000003612.1	G	NM_006786	-		7910965	-1	no_errors	ENST00000054668	ensembl	human	known	74_37	missense	SNP	0.000	T	T	7910965	G	T	7910965	3	4	97	1	0	0	0	0	1	0	0	0	17111	1087	38	3	265	3	UTS2	1	7910965	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		7910965	241339656	1	5518											
ATP13A2	23400	genome.wustl.edu	37	chr1	17322893	17322893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcacccaggacagagaGggcagccacaaacttcatgc	9	15	2	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:17322893G>A	ENST00000326735.8	-	13	1327	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	ATP13A2_ENST00000452699.1_Missense_Mutation_p.L427F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000341676.5_Missense_Mutation_p.L427F			Q9NQ11	AT132_HUMAN	ATPase type 13A2	432					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGACAGAGAGGGCAGCCACA	0.607																																																	0								ENSG00000159363						75	83	80					1																	17322893		2203	4300	6503	ATP13A2	SO:0001583	missense	0			-	HGNC	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1294C>T	1.37:g.17322893G>A	ENSP00000327214:p.Leu432Phe	Somatic	0	215	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	63	26.74	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.L432F	ENST00000326735.8	37	c.1294	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458567	0.84317	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.69	4.69	0.59074	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	0.988;0.991;1.0;1.0	P;D;D;D	0.97110	0.893;0.961;1.0;0.999	D	0.98247	1.0491	10	0.87932	D	0	-25.9236	16.1502	0.81611	0.0:0.0:1.0:0.0	.	145;427;427;432	Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;AT132_HUMAN	F	432;427;427;146	ENSP00000327214:L432F;ENSP00000341115:L427F;ENSP00000413307:L427F;ENSP00000424393:L146F	ENSP00000327214:L432F	L	-	1	0	ATP13A2	17195480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.733000	0.55029	2.141000	0.66446	0.561000	0.74099	CTC	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	protein_coding	OTTHUMT00000006617.1	G	NM_022089	-		17322893	-1	no_errors	ENST00000326735	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17322893	G	A	17322893	3	1	97	1	0	0	0	0	1	0	0	0	1124	1000	35	2	2552	2	ATP13A2	1	17322893	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	9411928	17322893	231927728	2	5519											
HSPG2	3339	genome.wustl.edu	37	chr1	22169884	22169885	+	Frame_Shift_Del	DEL	AG	AG	-													acttggcacgagtactcgccAgagtcagccggggacacctg							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:22169884_22169885delAG	ENST00000374695.3	-	66	8742_8743	c.8663_8664delCT	c.(8662-8664)tctfs	p.S2888fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2888	Ig-like C2-type 14.				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)	AGTACTCGCCAGAGTCAGCCGG	0.644																																																	0								ENSG00000142798																																			HSPG2	SO:0001589	frameshift_variant	0				HGNC	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.8663_8664delCT	1.37:g.22169886_22169887delAG	ENSP00000363827:p.Ser2888fs	Somatic	0	145	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.S2888fs	ENST00000374695.3	37	c.8664_8663	CCDS30625.1	1																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.644	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	AG	NM_005529			22169885	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	frame_shift_del	DEL	0.999:1.000	-	-	22169885	AG	-	22169884	7	5	97	1	0	1	0	1	0	0	0	0	7432	175	7	0	4639	0	HSPG2	1	22169884	Frame_Shift_Del	DEL	AG	TCGA-DX-A8BK-01A-11D-A37C-09	4846991	22169884	227080737	3	5520											
MAP3K6	9064	genome.wustl.edu	37	chr1	27691161	27691161	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctgctcaccgagttcttCtggaaaacatcctcctgcag	7	13	4	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:27691161C>A	ENST00000493901.1	-	4	734	c.495G>T	c.(493-495)caG>caT	p.Q165H	MAP3K6_ENST00000374040.3_Intron|MAP3K6_ENST00000357582.2_Missense_Mutation_p.Q165H	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	165					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGAGTTCTTCTGGAAAACAT	0.572																																																	0								ENSG00000142733						126	119	122					1																	27691161		2203	4300	6503	MAP3K6	SO:0001583	missense	0			-	HGNC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.495G>T	1.37:g.27691161C>A	ENSP00000419591:p.Gln165His	Somatic	0	62	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q165H	ENST00000493901.1	37	c.495	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757629	0.69648	.	.	ENSG00000142733	ENST00000493901;ENST00000357582	T;T	0.69040	-0.37;-0.37	5.26	5.26	0.73747	.	.	.	.	.	T	0.75110	0.3805	L	0.49778	1.585	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.76008	-0.3116	9	0.72032	D	0.01	.	9.7408	0.40418	0.0:0.9087:0.0:0.0913	.	165	O95382	M3K6_HUMAN	H	165	ENSP00000419591:Q165H;ENSP00000350195:Q165H	ENSP00000350195:Q165H	Q	-	3	2	MAP3K6	27563748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.178000	0.50879	2.750000	0.94351	0.561000	0.74099	CAG	-	NULL		0.572	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	protein_coding	OTTHUMT00000013469.2	C	NM_004672	-		27691161	-1	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27691161	C	A	27691161	3	1	97	1	0	0	0	0	1	0	0	0	9256	912	32	3	3479	3	MAP3K6	1	27691161	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	5521277	27691161	221559460	4	5521											
SLC6A9	6536	genome.wustl.edu	37	chr1	44466534	44466534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcctggaagtagttccGgtgccctggagagatggggg	18	7	0	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:44466534G>A	ENST00000360584.2	-	12	1851	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	SLC6A9_ENST00000537678.1_3'UTR|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R500W|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R416W|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R481W|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R370W|SLC6A9_ENST00000372306.3_Missense_Mutation_p.P510L	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	554					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)	AAGTAGTTCCGGTGCCCTGGA	0.632																																																	0								ENSG00000196517						58	63	61					1																	44466534		2203	4300	6503	SLC6A9	SO:0001583	missense	0			-	HGNC	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.1660C>T	1.37:g.44466534G>A	ENSP00000353791:p.Arg554Trp	Somatic	0	122	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.R554W	ENST00000360584.2	37	c.1660	CCDS41317.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919998|2.919998	0.52653|0.52653	.|.	.|.	ENSG00000196517|ENSG00000196517	ENST00000372306|ENST00000372307;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T|T;T;T;T;T	0.72942|0.75154	-0.7|-0.91;-0.91;-0.91;-0.91;-0.91	5.62|5.62	3.69|3.69	0.42338|0.42338	.|.	.|0.326887	.|0.34507	.|N	.|0.003901	T|T	0.81489|0.81489	0.4833|0.4833	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	B|D;B;B;B;D	0.29766|0.76494	0.256|0.996;0.305;0.138;0.034;0.999	B|P;B;B;B;P	0.18871|0.60173	0.023|0.803;0.142;0.021;0.013;0.87	T|T	0.81595|0.81595	-0.0861|-0.0861	9|10	0.33141|0.72032	T|D	0.24|0.01	.|.	10.3898|10.3898	0.44162|0.44162	0.0:0.1317:0.595:0.2733|0.0:0.1317:0.595:0.2733	.|.	510|485;416;481;500;554	B7Z8W5|B7Z3W8;B7Z3A9;P48067-2;P48067-3;P48067	.|.;.;.;.;SC6A9_HUMAN	L|W	510|416;481;370;554;500	ENSP00000361380:P510L|ENSP00000361381:R416W;ENSP00000361384:R481W;ENSP00000434460:R370W;ENSP00000353791:R554W;ENSP00000350362:R500W	ENSP00000361380:P510L|ENSP00000350362:R500W	P|R	-|-	2|1	0|2	SLC6A9|SLC6A9	44239121|44239121	0.895000|0.895000	0.30542|0.30542	0.689000|0.689000	0.30133|0.30133	0.997000|0.997000	0.91878|0.91878	1.334000|1.334000	0.33827|0.33827	0.682000|0.682000	0.31407|0.31407	0.655000|0.655000	0.94253|0.94253	CCG|CGG	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.632	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	protein_coding	OTTHUMT00000022825.2	G	NM_201649	-		44466534	-1	no_errors	ENST00000360584	ensembl	human	known	74_37	missense	SNP	0.995	A	A	44466534	G	A	44466534	3	1	97	1	0	0	0	0	1	0	0	0	14699	1115	39	1	472	1	SLC6A9	1	44466534	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	16775373	44466534	204784087	5	5522											
DOCK7	85440	genome.wustl.edu	37	chr1	63097073	63097073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctccagtttttcttTattctgcaaaacagaacttt	4	9	3	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:63097073T>C	ENST00000340370.5	-	11	1137	c.1120A>G	c.(1120-1122)Aaa>Gaa	p.K374E	DOCK7_ENST00000251157.5_Missense_Mutation_p.K374E|DOCK7_ENST00000404627.2_Missense_Mutation_p.K374E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	374					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTTTTTCTTTATTCTGCAAA	0.333																																																	0								ENSG00000116641						45	43	43					1																	63097073		2202	4300	6502	DOCK7	SO:0001583	missense	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1120A>G	1.37:g.63097073T>C	ENSP00000340742:p.Lys374Glu	Somatic	0	48	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K374E	ENST00000340370.5	37	c.1120	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548591	0.86127	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.40225	1.04;1.04;1.04	4.87	4.87	0.63330	.	0.047644	0.85682	D	0.000000	T	0.43233	0.1238	L	0.45698	1.435	0.80722	D	1	D;P;D;D;D	0.71674	0.985;0.875;0.997;0.998;0.991	P;P;D;D;D	0.85130	0.867;0.729;0.984;0.997;0.954	T	0.26608	-1.0098	10	0.15066	T	0.55	.	14.6312	0.68657	0.0:0.0:0.0:1.0	.	374;374;374;374;374	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	E	374	ENSP00000251157:K374E;ENSP00000340742:K374E;ENSP00000384446:K374E	ENSP00000251157:K374E	K	-	1	0	DOCK7	62869661	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.033000	0.60031	0.528000	0.53228	AAA	-	NULL		0.333	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	T	NM_033407	-		63097073	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63097073	T	C	63097073	3	2	97	1	0	0	0	0	1	0	0	0	4694	1763	61	5	5365	5	DOCK7	1	63097073	Missense_Mutation	SNP	T	TCGA-DX-A8BK-01A-11D-A37C-09	18630539	63097073	186153548	6	5523											
ZZZ3	26009	genome.wustl.edu	37	chr1	78031789	78031789	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgaacaagaatcacagaaAtccaaagacatttctggagg	8	8	3	4			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:78031789A>T	ENST00000370801.3	-	14	3019	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ZZZ3_ENST00000370798.1_Missense_Mutation_p.D354E|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	848					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AATCACAGAAATCCAAAGACA	0.403																																																	0								ENSG00000036549						64	60	61					1																	78031789		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2544T>A	1.37:g.78031789A>T	ENSP00000359837:p.Asp848Glu	Somatic	0	87	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	62	31.87	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.D848E	ENST00000370801.3	37	c.2544	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235229	0.58886	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96685	-4.09;-4.09	5.23	0.0825	0.14429	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	M	0.92026	3.265	0.53688	D	0.999975	B;D;B	0.89917	0.008;1.0;0.069	B;D;B	0.91635	0.011;0.999;0.043	D	0.95409	0.8496	10	0.87932	D	0	.	5.7543	0.18164	0.6808:0.0:0.2033:0.1159	.	354;848;847	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	E	848;354	ENSP00000359837:D848E;ENSP00000359834:D354E	ENSP00000359834:D354E	D	-	3	2	ZZZ3	77804377	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.369000	0.44231	0.056000	0.16144	0.533000	0.62120	GAT	-	pfam_Znf_ZZ,pfscan_Znf_ZZ		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	A	NM_015534	-		78031789	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78031789	A	T	78031789	3	4	97	1	0	0	0	0	1	0	0	0	18263	98	4	5	175	5	ZZZ3	1	78031789	Missense_Mutation	SNP	A	TCGA-DX-A8BK-01A-11D-A37C-09	14934716	78031789	171218832	7	5524											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110033610	110033610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttatctgctcccctgagCccatcctctacaggcacctg	7	18	2	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:110033610C>T	ENST00000369870.3	+	10	1440	c.1425C>T	c.(1423-1425)agC>agT	p.S475S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	475										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCCCTGAGCCCATCCTCTA	0.617											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162650						80	86	84					1																	110033610		2203	4300	6503	ATXN7L2	SO:0001819	synonymous_variant	0			-	HGNC	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1425C>T	1.37:g.110033610C>T		Somatic	0	134	0	1424	0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		Silent	SNP							pfam_SCA7_dom	p.S475	ENST00000369870.3	37	c.1425	CCDS30794.1	1																																																																																			-	NULL		0.617	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	protein_coding	OTTHUMT00000030331.1	C	NM_153340	-		110033610	1	no_errors	ENST00000369870	ensembl	human	known	74_37	silent	SNP	1.000	T	T	110033610	C	T	110033610	2	4	97	1	0	0	0	0	0	0	0	1	1217	738	26	2		2	ATXN7L2	1	110033610	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	32001821	110033610	139217011	8	5525											
NUP210L	91181	genome.wustl.edu	37	chr1	153995735	153995735	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggctgtgtatagcttGggttggctgctcactcgcag	14	10	1	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:153995735G>T	ENST00000368559.3	-	31	4232	c.4161C>A	c.(4159-4161)ccC>ccA	p.P1387P	NUP210L_ENST00000271854.3_Silent_p.P1387P|NUP210L_ENST00000368553.1_Silent_p.P320P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1387					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTATAGCTTGGGTTGGCTGC	0.483																																																	0								ENSG00000143552						107	109	109					1																	153995735		1975	4158	6133	NUP210L	SO:0001819	synonymous_variant	0			-	HGNC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4161C>A	1.37:g.153995735G>T		Somatic	0	92	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP							pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.P1387	ENST00000368559.3	37	c.4161	CCDS41399.1	1																																																																																			-	NULL		0.483	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	protein_coding	OTTHUMT00000087270.3	G	NM_207308	-		153995735	-1	no_errors	ENST00000368559	ensembl	human	known	74_37	silent	SNP	0.991	T	T	153995735	G	T	153995735	2	4	97	1	0	0	0	0	0	0	0	1	10763	1335	47	3		3	NUP210L	1	153995735	Silent	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	43962125	153995735	95254886	9	5526											
WDR26	80232	genome.wustl.edu	37	chr1	224581559	224581559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggtggtctataaaaggtGctggtccccatattctaaca	9	9	3	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:224581559G>T	ENST00000414423.2	-	13	2124	c.1931C>A	c.(1930-1932)gCa>gAa	p.A644E	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.A497E	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	644						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TATAAAAGGTGCTGGTCCCCA	0.423																																																	0								ENSG00000162923						125	117	120					1																	224581559		2203	4300	6503	WDR26	SO:0001583	missense	0			-	HGNC	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1931C>A	1.37:g.224581559G>T	ENSP00000408108:p.Ala644Glu	Somatic	0	69	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A644E	ENST00000414423.2	37	c.1931	CCDS31037.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606316|4.606316	0.87157|0.87157	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.68331|.	-0.32;-0.04|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59046|0.59046	0.2165|0.2165	L|L	0.27975|0.27975	0.815|0.815	0.80722|0.80722	D|D	1|1	P|.	0.39737|.	0.685|.	B|.	0.39152|.	0.292|.	T|T	0.50268|0.50268	-0.8848|-0.8848	10|5	0.02654|.	T|.	1|.	.|.	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	628|.	Q9H7D7-2|.	.|.	E|R	644;497|277	ENSP00000408108:A644E;ENSP00000295024:A497E|.	ENSP00000295024:A497E|.	A|S	-|-	2|3	0|2	WDR26|WDR26	222648182|222648182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.832000|9.832000	0.99423|0.99423	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	NULL		0.423	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	protein_coding	OTTHUMT00000091760.2	G	NM_025160	-		224581559	-1	no_errors	ENST00000414423	ensembl	human	known	74_37	missense	SNP	1.000	T	T	224581559	G	T	224581559	3	4	97	1	0	0	0	0	1	0	0	0	17290	1319	46	3	62	3	WDR26	1	224581559	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	70585824	224581559	24669062	10	5527											
MATN3	4148	genome.wustl.edu	37	chr2	20196955	20196955	+	Frame_Shift_Del	DEL	A	A	-													atagcaatcacagtggtaggAtgcggccccatcactcacac							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:20196955delA	ENST00000407540.3	-	6	1296	c.1234delT	c.(1234-1236)tccfs	p.S412fs	MATN3_ENST00000421259.2_Frame_Shift_Del_p.S370fs|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	412	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGGTAGGATGCGGCCCCA	0.488																																																	0								ENSG00000132031						73	70	71					2																	20196955		2000	4163	6163	MATN3	SO:0001589	frameshift_variant	0				HGNC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1234delT	2.37:g.20196955delA	ENSP00000383894:p.Ser412fs	Somatic	0	37	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B2CPU0|Q4ZG02	Frame_Shift_Del	DEL							pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.S412fs	ENST00000407540.3	37	c.1234	CCDS46226.1	2																																																																																			-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.488	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	protein_coding	OTTHUMT00000323925.1	A	NM_002381			20196955	-1	no_errors	ENST00000407540	ensembl	human	known	74_37	frame_shift_del	DEL	0.255	-	-	20196955	A	-	20196955	7	5	97	1	0	1	0	1	0	0	0	0	9337	333	12	0	238	0	MATN3	2	20196955	Frame_Shift_Del	DEL	A	TCGA-DX-A8BK-01A-11D-A37C-09		20196955	223002418	11	5528											
C2orf61	285051	genome.wustl.edu	37	chr2	47357396	47357397	+	Frame_Shift_Del	DEL	GT	GT	-													ttgccccggagaaagctgaaGtgactgcacagaatggacaa							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:47357396_47357397delGT	ENST00000445927.2	-	4	528_529	c.402_403delAC	c.(400-405)tcacttfs	p.L135fs	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Frame_Shift_Del_p.L135fs	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	135										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAAGCTGAAGTGACTGCACAG	0.376																																																	0								ENSG00000239605																																			C2orf61	SO:0001589	frameshift_variant	0				HGNC	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.402_403delAC	2.37:g.47357396_47357397delGT	ENSP00000408527:p.Leu135fs	Somatic	0	62	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	H7C2Z2	Frame_Shift_Del	DEL							NULL	p.L135fs	ENST00000445927.2	37	c.403_402	CCDS54356.1	2																																																																																			-	NULL		0.376	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	protein_coding		GT	NM_173649			47357397	-1	no_errors	ENST00000445927	ensembl	human	known	74_37	frame_shift_del	DEL	0.001:0.001	-	-	47357397	GT	-	47357396	7	5	97	1	0	1	0	1	0	0	0	0	2182	1029	36	0	374	0	C2orf61	2	47357396	Frame_Shift_Del	DEL	GT	TCGA-DX-A8BK-01A-11D-A37C-09	27160441	47357396	195841977	12	5529											
NPAS2	4862	genome.wustl.edu	37	chr2	101541705	101541705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggcaacacgcggaaaatgGacaaaaccaccgtgttggaa	11	10	0	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:101541705G>T	ENST00000335681.5	+	3	415	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.D109Y	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	44	Sufficient for heterodimer formation with ARNTL/BMAL1, E-box binding and for the effect of NADPH. {ECO:0000250|UniProtKB:P97460}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGAAAATGGACAAAACCAC	0.483																																																	0								ENSG00000170485						110	103	106					2																	101541705		2203	4300	6503	NPAS2	SO:0001583	missense	0			-	HGNC	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.130G>T	2.37:g.101541705G>T	ENSP00000338283:p.Asp44Tyr	Somatic	0	116	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP							pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.D109Y	ENST00000335681.5	37	c.325	CCDS2048.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.1|24.1|24.1	4.493637|4.493637|4.493637	0.84962|0.84962|0.84962	.|.|.	.|.|.	ENSG00000170485|ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000451740|ENST00000448812|ENST00000427413	D;D;D|.|.	0.98060|.|.	-4.69;-4.69;-4.69|.|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	Helix-loop-helix DNA-binding (5);|.|.	0.050953|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.80025|0.80025|0.80025	0.4548|0.4548|0.4548	M|M|M	0.87682|0.87682|0.87682	2.9|2.9|2.9	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.79784|.|.	0.991;0.993|.|.	T|T|T	0.82472|0.82472|0.82472	-0.0440|-0.0440|-0.0440	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	15.2356|15.2356|15.2356	0.73427|0.73427|0.73427	0.0:0.14:0.86:0.0|0.0:0.14:0.86:0.0|0.0:0.14:0.86:0.0	.|.|.	109;44|.|.	F5H027;Q99743|.|.	.;NPAS2_HUMAN|.|.	Y|V|C	44;109;28|33|109	ENSP00000338283:D44Y;ENSP00000438428:D109Y;ENSP00000395265:D28Y|.|.	ENSP00000338283:D44Y|.|.	D|G|W	+|+|+	1|2|3	0|0|0	NPAS2|NPAS2|NPAS2	100908137|100908137|100908137	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	7.319000|7.319000|7.319000	0.79040|0.79040|0.79040	2.646000|2.646000|2.646000	0.89796|0.89796|0.89796	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|GGA|TGG	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.483	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	protein_coding	OTTHUMT00000253168.3	G		-		101541705	1	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101541705	G	T	101541705	3	4	97	1	0	0	0	0	1	0	0	0	10565	1174	41	3	136	3	NPAS2	2	101541705	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	54184309	101541705	141657668	13	5530											
SCN2A	6326	genome.wustl.edu	37	chr2	166246020	166246020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattacgaccacgttgaaaCgcaaacaagaggaggtgtct	10	10	1	2	rs367833365		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:166246020C>T	ENST00000375437.2	+	27	5994	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	SCN2A_ENST00000357398.3_Missense_Mutation_p.R1902C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1902			R -> T (associated with autism). {ECO:0000269|PubMed:12610651}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGTTGAAACGCAAACAAGA	0.433																																																	0			GRCh37	CM034570	SCN2A	M		ENSG00000136531	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	81	83		5704,5704,5704	5.9	1	2		83	0,8600		0,0,4300	no	missense,missense,missense	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1902/2006,1902/2006,1902/2006	166246020	1,13005	2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5704C>T	2.37:g.166246020C>T	ENSP00000364586:p.Arg1902Cys	Somatic	0	55	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R1902C	ENST00000375437.2	37	c.5704	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814541	0.50527	2.27E-4	0.0	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.87	5.87	0.94306	.	0.113909	0.37261	N	0.002173	D	0.98362	0.9456	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.87578	0.865;0.998	D	0.98727	1.0711	10	0.66056	D	0.02	.	13.6126	0.62088	0.2709:0.7291:0.0:0.0	.	1902;1902	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1902	ENSP00000364586:R1902C;ENSP00000349973:R1902C;ENSP00000283256:R1902C;ENSP00000364576:R1902C	ENSP00000283256:R1902C	R	+	1	0	SCN2A	165954266	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.510000	0.45468	2.785000	0.95823	0.585000	0.79938	CGC	-	NULL		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166246020	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166246020	C	T	166246020	3	4	97	1	0	0	0	0	1	0	0	0	13924	536	19	1	5902	1	SCN2A	2	166246020	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	64704315	166246020	76953353	14	5531											
ABCA12	26154	genome.wustl.edu	37	chr2	215852473	215852473	+	Frame_Shift_Del	DEL	A	A	-													aaatcgctccttccaataggAaggaagaattggaaaatacc							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:215852473delA	ENST00000272895.7	-	27	4093	c.3874delT	c.(3874-3876)tccfs	p.S1292fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.S974fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1292					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCAATAGGAAGGAAGAATT	0.428																																					Ovarian(66;664 1488 5121 34295)												0								ENSG00000144452						68	60	63					2																	215852473		2203	4300	6503	ABCA12	SO:0001589	frameshift_variant	0				HGNC	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3874delT	2.37:g.215852473delA	ENSP00000272895:p.Ser1292fs	Somatic	0	55	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1292fs	ENST00000272895.7	37	c.3874	CCDS33372.1	2																																																																																			-	NULL		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	protein_coding	OTTHUMT00000337111.1	A	NM_173076			215852473	-1	no_errors	ENST00000272895	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	215852473	A	-	215852473	7	5	97	1	0	1	0	1	0	0	0	0	30	246	9	0	4021	0	ABCA12	2	215852473	Frame_Shift_Del	DEL	A	TCGA-DX-A8BK-01A-11D-A37C-09	49606453	215852473	27346900	15	5532											
PPARG	5468	genome.wustl.edu	37	chr3	12458565	12458565	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgactttatggagccCaagtttgagtttgctgtgaa	12	5	0	3			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:12458565C>G	ENST00000287820.6	+	6	1303	c.1182C>G	c.(1180-1182)ccC>ccG	p.P394P	PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Silent_p.P372P|PPARG_ENST00000397012.2_Silent_p.P366P|PPARG_ENST00000397010.2_Silent_p.P366P|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000309576.6_Silent_p.P366P|PPARG_ENST00000397015.2_Silent_p.P366P	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	394	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TTATGGAGCCCAAGTTTGAGT	0.428			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																	Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0								ENSG00000132170						44	43	43					3																	12458565		2203	4300	6503	PPARG	SO:0001819	synonymous_variant	0			-	HGNC	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1182C>G	3.37:g.12458565C>G		Somatic	0	95	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P394	ENST00000287820.6	37	c.1182	CCDS2609.1	3																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt		0.428	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	protein_coding	OTTHUMT00000251979.2	C	NM_005037	-		12458565	1	no_errors	ENST00000287820	ensembl	human	known	74_37	silent	SNP	1.000	G	G	12458565	C	G	12458565	2	3	97	1	0	0	0	0	0	0	0	1	12301	581	21	4		4	PPARG	3	12458565	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09		12458565	185563865	16	5533											
WDR52	55779	genome.wustl.edu	37	chr3	113098247	113098249	+	In_Frame_Del	DEL	TCC	TCC	-													tttcaggtaatggctcttctTcctcctcctcctcctctttc							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:113098247_113098249delTCC	ENST00000295868.2	-	17	2364_2366	c.2202_2204delGGA	c.(2200-2205)gaggaa>gaa	p.734_735EE>E	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_In_Frame_Del_p.734_735EE>E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGctcttcttcctcctcctcct	0.458																																																	0								ENSG00000206530																																			WDR52	SO:0001651	inframe_deletion	0				HGNC																												ENST00000295868.2:c.2202_2204delGGA	3.37:g.113098256_113098258delTCC	ENSP00000295868:p.Glu737del	Somatic	0	67	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		In_Frame_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E737in_frame_del	ENST00000295868.2	37	c.2204_2202	CCDS2972.1	3																																																																																			-	superfamily_WD40_repeat_dom		0.458	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	protein_coding	OTTHUMT00000354128.3	TCC				113098249	-1	no_errors	ENST00000393845	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	113098249	TCC	-	113098247	7	5	97	1	0	1	0	1	0	0	0	0	17311	1783	62	0	3451	0	WDR52	3	113098247	In_Frame_Del	DEL	TCC	TCGA-DX-A8BK-01A-11D-A37C-09	100639682	113098247	84924183	17	5534											
TMEM108	66000	genome.wustl.edu	37	chr3	133109090	133109090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacccggagaacaacctgaGctactggaacaacaccatca	7	14	1	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:133109090G>A	ENST00000321871.6	+	5	1727	c.1517G>A	c.(1516-1518)aGc>aAc	p.S506N	TMEM108_ENST00000508711.1_Missense_Mutation_p.S36N|TMEM108_ENST00000393130.3_Missense_Mutation_p.S506N	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	506						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						AACAACCTGAGCTACTGGAAC	0.537																																																	0								ENSG00000144868						371	341	351					3																	133109090		2203	4300	6503	TMEM108	SO:0001583	missense	0			-	HGNC	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.1517G>A	3.37:g.133109090G>A	ENSP00000324651:p.Ser506Asn	Somatic	0	63	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP							NULL	p.S506N	ENST00000321871.6	37	c.1517	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031718	0.75504	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.65916	-0.18;-0.18	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.79155	0.4398	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.87578	0.916;0.998	T	0.82028	-0.0660	10	0.87932	D	0	-14.7924	18.219	0.89895	0.0:0.0:1.0:0.0	.	36;506	B3KT64;Q6UXF1	.;TM108_HUMAN	N	506;506;36	ENSP00000324651:S506N;ENSP00000376838:S506N	ENSP00000324651:S506N	S	+	2	0	TMEM108	134591780	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.404000	0.97306	2.288000	0.76882	0.655000	0.94253	AGC	-	NULL		0.537	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	G	NM_023943	-		133109090	1	no_errors	ENST00000321871	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133109090	G	A	133109090	3	1	97	1	0	0	0	0	1	0	0	0	16031	971	34	2	1527	2	TMEM108	3	133109090	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	20010843	133109090	64913340	18	5535											
C4orf50	389197	genome.wustl.edu	37	chr4	5961217	5961217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagctcagagggtgctGggacgttatcgacttggagg	17	7	2	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:5961217G>T	ENST00000324058.5	-	7	805	c.716C>A	c.(715-717)cCa>cAa	p.P239Q	C4orf50_ENST00000531445.1_Missense_Mutation_p.P713Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	239										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGGTGCTGGGACGTTATC	0.562																																																	0								ENSG00000181215						118	110	113					4																	5961217		2203	4300	6503	C4orf50	SO:0001583	missense	0			-	HGNC	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.716C>A	4.37:g.5961217G>T	ENSP00000317287:p.Pro239Gln	Somatic	0	118	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP							NULL	p.P713Q	ENST00000324058.5	37	c.2138		4	.	.	.	.	.	.	.	.	.	.	G	6.200	0.405036	0.11754	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23754	1.89;1.89	3.31	1.49	0.22878	.	0.384283	0.19057	N	0.123871	T	0.25269	0.0614	L	0.33485	1.01	0.09310	N	1	D	0.61697	0.99	P	0.58266	0.836	T	0.13629	-1.0502	10	0.15499	T	0.54	-4.9036	5.0234	0.14372	0.3025:0.0:0.6975:0.0	.	239	Q6ZRC1	CD050_HUMAN	Q	713;239	ENSP00000437121:P713Q;ENSP00000317287:P239Q	ENSP00000317287:P239Q	P	-	2	0	C4orf50	6012118	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.475000	0.06599	0.121000	0.18284	0.655000	0.94253	CCA	-	NULL		0.562	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	protein_coding		G	NM_207405	-		5961217	-1	no_errors	ENST00000531445	ensembl	human	known	74_37	missense	SNP	0.001	T	T	5961217	G	T	5961217	3	4	97	1	0	0	0	0	1	0	0	0	2278	1348	47	3	118	3	C4orf50	4	5961217	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		5961217	185193059	19	5536											
TBC1D1	23216	genome.wustl.edu	37	chr4	38104690	38104691	+	Frame_Shift_Ins	INS	-	-	C													tccaccttaaacaccagtttINScccagcaaacagcagccaaa					rs142187678		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:38104690_38104691insC	ENST00000261439.4	+	15	2824_2825	c.2469_2470insC	c.(2470-2472)cccfs	p.P824fs	TBC1D1_ENST00000508802.1_Frame_Shift_Ins_p.P918fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	824	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AACACCAGTTTCCCAGCAAACA	0.45																																																	0								ENSG00000065882																																			TBC1D1	SO:0001589	frameshift_variant	0				HGNC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2472dupC	4.37:g.38104693_38104693dupC	ENSP00000261439:p.Pro824fs	Somatic	0	69	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Ins	INS							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.S824fs	ENST00000261439.4	37	c.2469_2470	CCDS33972.1	4																																																																																			-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.45	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	-	NM_015173			38104691	1	no_errors	ENST00000261439	ensembl	human	known	74_37	frame_shift_ins	INS	0.998:0.997	C	C	38104691	-	C	38104690	7	5	97	1	0	1	1	0	0	0	0	0	15604	1780	62	0	2523	0	TBC1D1	4	38104690	Frame_Shift_Ins	INS	-	TCGA-DX-A8BK-01A-11D-A37C-09	32143473	38104690	153049586	20	5537											
DSPP	1834	genome.wustl.edu	37	chr4	88536614	88536614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatagtagtgacaacagcAatagcagtgacagcagcaac	10	8	0	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:88536614A>G	ENST00000282478.7	+	4	2833	c.2800A>G	c.(2800-2802)Aat>Gat	p.N934D	DSPP_ENST00000399271.1_Missense_Mutation_p.N934D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	934	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacaacagcaatagcagtga	0.478																																																	0								ENSG00000152591																																			DSPP	SO:0001583	missense	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2800A>G	4.37:g.88536614A>G	ENSP00000282478:p.Asn934Asp	Somatic	1	120	0.83		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	A8MUI0|O95815	Missense_Mutation	SNP							NULL	p.N934D	ENST00000282478.7	37	c.2800	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.380186	0.01204	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87334	-2.24;-2.24	1.73	0.826	0.18829	.	.	.	.	.	T	0.72374	0.3452	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54091	-0.8345	9	0.09843	T	0.71	.	4.3182	0.11003	0.2182:0.0:0.7818:0.0	.	934	Q9NZW4	DSPP_HUMAN	D	934	ENSP00000382213:N934D;ENSP00000282478:N934D	ENSP00000282478:N934D	N	+	1	0	DSPP	88755638	0.001000	0.12720	0.381000	0.26106	0.004000	0.04260	0.109000	0.15417	0.304000	0.22809	-1.256000	0.01477	AAT	-	NULL		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	A	NM_014208	-		88536614	1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	SNP	0.354	G	G	88536614	A	G	88536614	3	3	97	1	0	0	0	0	1	0	0	0	4784	130	5	5	2814	5	DSPP	4	88536614	Missense_Mutation	SNP	A	TCGA-DX-A8BK-01A-11D-A37C-09	50431924	88536614	102617662	21	5538											
C4orf41	60684	genome.wustl.edu	37	chr4	184603969	184603969	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaaagatcatggcgacaaGgaatactaagtaaataattt	8	5	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:184603969G>T	ENST00000334690.6	+	11	1400	c.1198G>T	c.(1198-1200)Gga>Tga	p.G400*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.G400*|TRAPPC11_ENST00000512476.1_5'Flank	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	400					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATGGCGACAAGGAATACTAAG	0.373																																																	0								ENSG00000168538						87	86	86					4																	184603969		2203	4300	6503	TRAPPC11	SO:0001587	stop_gained	0			-	HGNC		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1198G>T	4.37:g.184603969G>T	ENSP00000335371:p.Gly400*	Somatic	0	70	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP							pfam_Foie-gras_1,pfam_DUF1683_C	p.G400*	ENST00000334690.6	37	c.1198	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.441633	0.98813	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	.	.	.	X	400	.	ENSP00000335371:G400X	G	+	1	0	C4orf41	184840963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.176000	0.94839	2.472000	0.83506	0.467000	0.42956	GGA	-	pfam_Foie-gras_1		0.373	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	protein_coding	OTTHUMT00000361654.2	G	NM_021942	-		184603969	1	no_errors	ENST00000334690	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	184603969	G	T	184603969	4	4	97	1	0	0	0	0	0	1	0	0	2272	1001	35	3	1236	3	C4orf41	4	184603969	Nonsense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	96067355	184603969	6550307	22	5539											
IRX4	50805	genome.wustl.edu	37	chr5	1879802	1879802	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggagacctgtgtgagggtCatcttggtgatgatggccag	17	6	2	4			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:1879802C>T	ENST00000505790.1	-	5	1008	c.552G>A	c.(550-552)atG>atA	p.M184I	IRX4_ENST00000231357.2_Missense_Mutation_p.M184I|IRX4_ENST00000513692.1_Missense_Mutation_p.M184I|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	184					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGTGAGGGTCATCTTGGTGA	0.627																																																	0								ENSG00000113430						182	136	151					5																	1879802		2203	4300	6503	IRX4	SO:0001583	missense	0			-	HGNC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.552G>A	5.37:g.1879802C>T	ENSP00000423161:p.Met184Ile	Somatic	0	135	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	78	21.21	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.M184I	ENST00000505790.1	37	c.552	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637410	0.87760	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;D	0.91068	-1.72;-1.72;-1.72;-2.78	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	L	0.35644	1.08	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	D	0.93746	0.7054	10	0.87932	D	0	-23.5184	16.0968	0.81132	0.0:1.0:0.0:0.0	.	184	P78413	IRX4_HUMAN	I	184;184;184;210	ENSP00000231357:M184I;ENSP00000423161:M184I;ENSP00000424235:M184I;ENSP00000421772:M210I	ENSP00000231357:M184I	M	-	3	0	IRX4	1932802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	2.067000	0.61834	0.462000	0.41574	ATG	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.627	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	protein_coding	OTTHUMT00000365500.1	C	NM_016358	-		1879802	-1	no_errors	ENST00000231357	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1879802	C	T	1879802	3	4	97	1	0	0	0	0	1	0	0	0	7848	826	29	2	1015	2	IRX4	5	1879802	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09		1879802	179035458	23	5540											
IRX1	79192	genome.wustl.edu	37	chr5	3599481	3599481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccacccgcgagagcaccaGcacgctcaaggcctggctca	11	18	2	1	rs376527513		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:3599481G>A	ENST00000302006.3	+	2	471	c.419G>A	c.(418-420)aGc>aAc	p.S140N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	140					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGAGCACCAGCACGCTCAAG	0.642																																																	0								ENSG00000170549						114	94	101					5																	3599481		2203	4300	6503	IRX1	SO:0001583	missense	0			-	HGNC	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.419G>A	5.37:g.3599481G>A	ENSP00000305244:p.Ser140Asn	Somatic	0	108	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	Q7Z2F8|Q8N312	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.S140N	ENST00000302006.3	37	c.419	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745206	0.69418	.	.	ENSG00000170549	ENST00000302006	D	0.83755	-1.76	4.51	3.63	0.41609	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.123081	0.85682	D	0.000000	D	0.84933	0.5582	M	0.66939	2.045	0.54753	D	0.999981	P	0.49783	0.928	P	0.48982	0.597	D	0.85797	0.1371	10	0.56958	D	0.05	-24.0892	14.4312	0.67251	0.0:0.1488:0.8512:0.0	.	140	P78414	IRX1_HUMAN	N	140	ENSP00000305244:S140N	ENSP00000305244:S140N	S	+	2	0	IRX1	3652481	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	5.276000	0.65580	0.967000	0.38186	0.655000	0.94253	AGC	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	protein_coding	OTTHUMT00000365546.1	G	NM_024337	-		3599481	1	no_errors	ENST00000302006	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3599481	G	A	3599481	3	1	97	1	0	0	0	0	1	0	0	0	7845	971	34	2	425	2	IRX1	5	3599481	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	1719679	3599481	177315779	24	5541											
C5orf15	56951	genome.wustl.edu	37	chr5	133295199	133295199	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acctaccttccttttgttgtGatatgtaatgtaaacaacag	6	8	0	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:133295199G>C	ENST00000231512.3	-	2	854	c.652C>G	c.(652-654)Cac>Gac	p.H218D	C5orf15_ENST00000507191.1_5'Flank	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	218						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CTTTTGTTGTGATATGTAATG	0.279																																																	0								ENSG00000113583						37	40	39					5																	133295199		2203	4300	6503	C5orf15	SO:0001583	missense	0			-	HGNC	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"keratinocytes associated transmembrane protein 2"						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.652C>G	5.37:g.133295199G>C	ENSP00000231512:p.His218Asp	Somatic	0	116	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP							NULL	p.H218D	ENST00000231512.3	37	c.652	CCDS4167.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511640	0.85389	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.83018	0.5163	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84173	0.0435	9	0.72032	D	0.01	-19.534	18.9319	0.92570	0.0:0.0:1.0:0.0	.	218	Q8NC54	KCT2_HUMAN	D	218;118	.	ENSP00000231512:H218D	H	-	1	0	C5orf15	133323098	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.959000	0.93110	2.727000	0.93392	0.655000	0.94253	CAC	-	NULL		0.279	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf15	protein_coding	OTTHUMT00000251175.1	G	NM_020199	-		133295199	-1	no_errors	ENST00000231512	ensembl	human	known	74_37	missense	SNP	1.000	C	C	133295199	G	C	133295199	3	2	97	1	0	0	0	0	1	0	0	0	2285	1290	45	4	153	4	C5orf15	5	133295199	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	129695718	133295199	47620061	25	5542											
LCP2	3937	genome.wustl.edu	37	chr5	169720342	169720342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagccccatcgatgtggtacTtcttcactgccttctcacag	8	14	3	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:169720342T>A	ENST00000046794.5	-	2	728	c.113A>T	c.(112-114)aAg>aTg	p.K38M		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	38	SAM.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GATGTGGTACTTCTTCACTGC	0.517																																																	0								ENSG00000043462						134	136	135					5																	169720342		2022	4192	6214	LCP2	SO:0001583	missense	0			-	HGNC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.113A>T	5.37:g.169720342T>A	ENSP00000046794:p.Lys38Met	Somatic	0	109	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	A8KA25|Q53XV4	Missense_Mutation	SNP							pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.K38M	ENST00000046794.5	37	c.113	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865942	0.71949	.	.	ENSG00000043462	ENST00000046794	D	0.85258	-1.96	5.8	4.65	0.58169	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.125065	0.53938	D	0.000058	D	0.90448	0.7009	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	9	.	.	.	-29.3543	8.5622	0.33518	0.0:0.0864:0.0:0.9136	.	38	Q13094	LCP2_HUMAN	M	38	ENSP00000046794:K38M	.	K	-	2	0	LCP2	169652920	0.981000	0.34729	0.854000	0.33618	0.825000	0.46686	2.124000	0.42006	1.030000	0.39839	0.533000	0.62120	AAG	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.517	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	protein_coding	OTTHUMT00000371727.1	T	NM_005565	-		169720342	-1	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	SNP	0.911	A	A	169720342	T	A	169720342	3	1	97	1	0	0	0	0	1	0	0	0	8694	1609	56	5	1568	5	LCP2	5	169720342	Missense_Mutation	SNP	T	TCGA-DX-A8BK-01A-11D-A37C-09	36425143	169720342	11194918	26	5543											
HIST1H2BI	8346	genome.wustl.edu	37	chr6	26273228	26273228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgaaccagctaagtcagctCccgccccgaagaagggctcc	10	16	1	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:26273228C>A	ENST00000377733.2	+	1	85	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	9					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TAAGTCAGCTCCCGCCCCGAA	0.552																																																	0								ENSG00000168242						110	110	110					6																	26273228		2203	4300	6503	HIST1H2BI	SO:0001583	missense	0			-	HGNC	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.25C>A	6.37:g.26273228C>A	ENSP00000366962:p.Pro9Thr	Somatic	0	84	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP							pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P9T	ENST00000377733.2	37	c.25	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	10.55	1.380613	0.24944	.	.	ENSG00000168242	ENST00000377733	T	0.22539	1.95	4.89	4.02	0.46733	.	.	.	.	.	T	0.21022	0.0506	M	0.66939	2.045	0.32600	N	0.526063	.	.	.	.	.	.	T	0.03325	-1.1048	7	0.51188	T	0.08	.	12.1813	0.54214	0.0:0.9156:0.0:0.0843	.	.	.	.	T	9	ENSP00000366962:P9T	ENSP00000366962:P9T	P	+	1	0	HIST1H2BI	26381207	0.778000	0.28640	0.020000	0.16555	0.004000	0.04260	1.473000	0.35387	1.060000	0.40578	0.563000	0.77884	CCC	-	superfamily_Histone-fold		0.552	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	protein_coding	OTTHUMT00000040111.1	C	NM_003525	-		26273228	1	no_errors	ENST00000377733	ensembl	human	known	74_37	missense	SNP	0.964	A	A	26273228	C	A	26273228	3	1	97	1	0	0	0	0	1	0	0	0	7150	855	30	3	27	3	HIST1H2BI	6	26273228	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09		26273228	144841839	27	5544											
DNAH8	1769	genome.wustl.edu	37	chr6	38831733	38831733	+	Frame_Shift_Del	DEL	T	T	-													atcagtggcagcacaacaaaTttatattgttttgacagcaa							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:38831733delT	ENST00000359357.3	+	43	5998	c.5744delT	c.(5743-5745)attfs	p.I1915fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.I1915fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.I2132fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1915	AAA 1. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCACAACAAATTTATATTGTT	0.363																																																	0								ENSG00000124721						81	81	81					6																	38831733		2203	4300	6503	DNAH8	SO:0001589	frameshift_variant	0				HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5744delT	6.37:g.38831733delT	ENSP00000352312:p.Ile1915fs	Somatic	0	86	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y1916fs	ENST00000359357.3	37	c.5744		6																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	T	NM_001206927			38831733	1	no_errors	ENST00000359357	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	38831733	T	-	38831733	7	5	97	1	0	1	0	1	0	0	0	0	4609	1493	52	0	5906	0	DNAH8	6	38831733	Frame_Shift_Del	DEL	T	TCGA-DX-A8BK-01A-11D-A37C-09	12558505	38831733	132283334	28	5545											
TTK	7272	genome.wustl.edu	37	chr6	80737669	80737669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacaccttatggccaaCctgcctgtttccagcagcaa	7	14	1	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:80737669C>T	ENST00000369798.2	+	13	1573	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TTK_ENST00000230510.3_Missense_Mutation_p.P487S|TTK_ENST00000509894.1_Missense_Mutation_p.P487S	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	488					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTATGGCCAACCTGCCTGTTT	0.343																																																	0								ENSG00000112742						86	79	81					6																	80737669		2203	4300	6503	TTK	SO:0001583	missense	0			-	HGNC		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1462C>T	6.37:g.80737669C>T	ENSP00000358813:p.Pro488Ser	Somatic	0	79	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P488S	ENST00000369798.2	37	c.1462	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	C	0.369	-0.935199	0.02340	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.67865	-0.29;-0.29;-0.29	5.99	2.17	0.27698	.	1.596010	0.03078	N	0.158099	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09509	-1.0671	10	0.08837	T	0.75	.	5.3844	0.16211	0.0:0.4997:0.2747:0.2256	.	488;487	P33981;A8K8U5	TTK_HUMAN;.	S	487;487;488	ENSP00000422936:P487S;ENSP00000230510:P487S;ENSP00000358813:P488S	ENSP00000230510:P487S	P	+	1	0	TTK	80794388	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.346000	0.19997	0.112000	0.17975	-0.140000	0.14226	CCT	-	NULL		0.343	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	protein_coding	OTTHUMT00000041316.2	C		-		80737669	1	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	SNP	0.000	T	T	80737669	C	T	80737669	3	4	97	1	0	0	0	0	1	0	0	0	16727	507	18	2	1508	2	TTK	6	80737669	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	41905936	80737669	90377398	29	5546											
CDC40	51362	genome.wustl.edu	37	chr6	110522833	110522833	+	Frame_Shift_Del	DEL	C	C	-													tgctttctggatatgccgaaCcagctcatatcaatgatttc							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:110522833delC	ENST00000368932.1	+	4	450	c.349delC	c.(349-351)ccafs	p.P117fs	CDC40_ENST00000307731.1_Frame_Shift_Del_p.P117fs|CDC40_ENST00000368930.1_Frame_Shift_Del_p.P117fs			O60508	PRP17_HUMAN	cell division cycle 40	117					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)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATATGCCGAACCAGCTCATAT	0.363																																																	0								ENSG00000168438						126	123	124					6																	110522833		2203	4300	6503	CDC40	SO:0001589	frameshift_variant	0				HGNC	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.349delC	6.37:g.110522833delC	ENSP00000357928:p.Pro117fs	Somatic	0	68	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B2RBC5|O75471|Q5SRN0|Q9UPG1	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P117fs	ENST00000368932.1	37	c.349	CCDS5081.1	6																																																																																			-	NULL		0.363	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	protein_coding	OTTHUMT00000041791.1	C	NM_015891			110522833	1	no_errors	ENST00000307731	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	110522833	C	-	110522833	7	5	97	1	0	1	0	1	0	0	0	0	3072	507	18	0	359	0	CDC40	6	110522833	Frame_Shift_Del	DEL	C	TCGA-DX-A8BK-01A-11D-A37C-09	29785164	110522833	60592234	30	5547											
C7orf25	79020	genome.wustl.edu	37	chr7	42949654	42949654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgctctttcctctcTtgctctgcttgttctgtgag	8	12	4	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr7:42949654T>A	ENST00000350427.4	-	2	1121	c.846A>T	c.(844-846)caA>caT	p.Q282H	C7orf25_ENST00000447342.1_Missense_Mutation_p.Q282H|C7orf25_ENST00000438029.1_Missense_Mutation_p.Q282H|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.Q340H			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	282										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTTTCCTCTCTTGCTCTGCTT	0.428																																																	0								ENSG00000136197						125	121	122					7																	42949654		2203	4300	6503	C7orf25	SO:0001583	missense	0			-	HGNC	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.846A>T	7.37:g.42949654T>A	ENSP00000343364:p.Gln282His	Somatic	0	66	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP							pfam_DUF1308	p.Q340H	ENST00000350427.4	37	c.1020	CCDS5466.1	7	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966134	0.53507	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.79	-6.4	0.01944	.	0.053511	0.85682	N	0.000000	T	0.49440	0.1557	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.957	T	0.64296	-0.6441	10	0.14656	T	0.56	-2.7016	12.7043	0.57051	0.0:0.5741:0.0959:0.3301	.	340;282	B4DQM3;Q9BPX7	.;CG025_HUMAN	H	282;282;340;282	ENSP00000343364:Q282H;ENSP00000413029:Q282H;ENSP00000416290:Q340H;ENSP00000396597:Q282H	ENSP00000343364:Q282H	Q	-	3	2	C7orf25	42916179	0.950000	0.32346	0.846000	0.33378	0.995000	0.86356	0.098000	0.15189	-1.115000	0.02973	0.459000	0.35465	CAA	-	pfam_DUF1308		0.428	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf25	protein_coding	OTTHUMT00000250814.2	T	NM_024054	-		42949654	-1	no_errors	ENST00000431882	ensembl	human	known	74_37	missense	SNP	0.755	A	A	42949654	T	A	42949654	3	1	97	1	0	0	0	0	1	0	0	0	2382	1606	56	5	423	5	C7orf25	7	42949654	Missense_Mutation	SNP	T	TCGA-DX-A8BK-01A-11D-A37C-09		42949654	116189009	31	5548											
ACHE	43	genome.wustl.edu	37	chr7	100491105	100491105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccctgtggaacaggcccCggctgggcggggacagcagg	19	13	0	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr7:100491105C>T	ENST00000412389.1	-	1	904	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	ACHE_ENST00000411582.1_Missense_Mutation_p.R250Q|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.R250Q|ACHE_ENST00000302913.4_Missense_Mutation_p.R250Q|ACHE_ENST00000428317.1_Missense_Mutation_p.R250Q|ACHE_ENST00000241069.5_Missense_Mutation_p.R250Q			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	250					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GAACAGGCCCCGGCTGGGCGG	0.721																																																	0								ENSG00000087085						22	26	24					7																	100491105		2198	4288	6486	ACHE	SO:0001583	missense	0			-	HGNC		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.749G>A	7.37:g.100491105C>T	ENSP00000394976:p.Arg250Gln	Somatic	0	44	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R250Q	ENST00000412389.1	37	c.749	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629417	0.28978	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.95	4.95	0.65309	Carboxylesterase, type B (1);	0.057533	0.64402	D	0.000002	T	0.58977	0.2160	L	0.56280	1.765	0.48830	D	0.999719	D;P;P;D	0.59357	0.985;0.882;0.945;0.97	B;B;B;B	0.42282	0.382;0.064;0.149;0.249	T	0.60342	-0.7282	10	0.36615	T	0.2	.	9.3398	0.38074	0.0:0.9007:0.0:0.0993	.	250;250;250;250	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Q	250	ENSP00000403474:R250Q;ENSP00000241069:R250Q;ENSP00000414858:R250Q;ENSP00000303211:R250Q;ENSP00000394976:R250Q;ENSP00000397143:R250Q;ENSP00000399725:R250Q;ENSP00000404865:R250Q	ENSP00000241069:R250Q	R	-	2	0	ACHE	100329041	0.288000	0.24324	1.000000	0.80357	0.075000	0.17131	0.905000	0.28504	2.281000	0.76405	0.484000	0.47621	CGG	-	pfam_CarbesteraseB		0.721	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	protein_coding	OTTHUMT00000347201.1	C	NM_015831	-		100491105	-1	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100491105	C	T	100491105	3	4	97	1	0	0	0	0	1	0	0	0	141	652	23	1	1246	1	ACHE	7	100491105	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	57541451	100491105	58647558	32	5549											
CALB1	793	genome.wustl.edu	37	chr8	91094268	91094268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctaccaatccagccttctTtcgcgcctgctggagctcct	7	17	1	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:91094268T>C	ENST00000265431.3	-	2	323	c.142A>G	c.(142-144)Aag>Gag	p.K48E	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	48					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCAGCCTTCTTTCGCGCCTGC	0.448																																					Melanoma(46;573 1182 27367 39727 48386)												0								ENSG00000104327						114	122	119					8																	91094268		2203	4300	6503	CALB1	SO:0001583	missense	0			-	HGNC		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.142A>G	8.37:g.91094268T>C	ENSP00000265431:p.Lys48Glu	Somatic	0	76	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	B2R696|B7Z9J4	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K48E	ENST00000265431.3	37	c.142	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808786	0.70797	.	.	ENSG00000104327	ENST00000265431	D	0.90563	-2.69	5.48	5.48	0.80851	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	M	0.75447	2.3	0.80722	D	1	B	0.25235	0.121	B	0.34824	0.19	D	0.87468	0.2412	10	0.27082	T	0.32	-22.9155	13.3838	0.60785	0.0:0.0:0.0:1.0	.	48	P05937	CALB1_HUMAN	E	48	ENSP00000265431:K48E	ENSP00000265431:K48E	K	-	1	0	CALB1	91163444	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.192000	0.65115	2.215000	0.71742	0.460000	0.39030	AAG	-	NULL		0.448	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	protein_coding	OTTHUMT00000259338.2	T	NM_004929	-		91094268	-1	no_errors	ENST00000265431	ensembl	human	known	74_37	missense	SNP	0.999	C	C	91094268	T	C	91094268	3	2	97	1	0	0	0	0	1	0	0	0	2575	1850	64	5	683	5	CALB1	8	91094268	Missense_Mutation	SNP	T	TCGA-DX-A8BK-01A-11D-A37C-09		91094268	55269754	33	5550											
KIAA1429	25962	genome.wustl.edu	37	chr8	95556150	95556150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacacatggaaaacgaacCacatctatatgagaactttg	6	10	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:95556150C>A	ENST00000297591.5	-	2	159	c.84G>T	c.(82-84)gtG>gtT	p.V28V	KIAA1429_ENST00000421249.2_Silent_p.V28V|AC023632.1_ENST00000391679.1_5'Flank|KIAA1429_ENST00000437199.1_Silent_p.V28V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	28					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAAAACGAACCACATCTATAT	0.408																																																	0								ENSG00000164944						122	137	132					8																	95556150		2203	4300	6503	KIAA1429	SO:0001819	synonymous_variant	0			-	HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.84G>T	8.37:g.95556150C>A		Somatic	0	94	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP							superfamily_ARM-type_fold	p.V28	ENST00000297591.5	37	c.84	CCDS34923.1	8																																																																																			-	NULL		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	C	NM_015496	-		95556150	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	silent	SNP	1.000	A	A	95556150	C	A	95556150	2	1	97	1	0	0	0	0	0	0	0	1	8233	581	21	3		3	KIAA1429	8	95556150	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	4461882	95556150	50807872	34	5551											
MPDZ	8777	genome.wustl.edu	37	chr9	13205963	13205963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatctgcatcttttgtgaCgtcttcccttgacatgagct	7	11	3	3			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:13205963C>T	ENST00000319217.7	-	11	1673	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	MPDZ_ENST00000536827.1_Missense_Mutation_p.V476I|MPDZ_ENST00000447879.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381022.2_Missense_Mutation_p.V476I|MPDZ_ENST00000541718.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381015.4_Missense_Mutation_p.V476I|MPDZ_ENST00000546205.1_Missense_Mutation_p.V476I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					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)	p.V476I(2)		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)		TCTTTTGTGACGTCTTCCCTT	0.418																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000107186						204	190	195					9																	13205963		1924	4142	6066	MPDZ	SO:0001583	missense	0			-	HGNC	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.1426G>A	9.37:g.13205963C>T	ENSP00000320006:p.Val476Ile	Somatic	0	65	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V476I	ENST00000319217.7	37	c.1426		9	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496931	0.26861	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10960	2.88;2.84;2.84;2.82;2.87;2.88;2.89	6.17	-3.11	0.05299	.	0.783752	0.10770	N	0.636105	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.08055	0.001;0.002;0.003	T	0.43475	-0.9389	10	0.18710	T	0.47	.	7.6992	0.28613	0.0:0.4327:0.1051:0.4622	.	476;476;476	B7ZMI4;O75970-3;O75970-2	.;.;.	I	476	ENSP00000320006:V476I;ENSP00000439807:V476I;ENSP00000370410:V476I;ENSP00000444151:V476I;ENSP00000415208:V476I;ENSP00000370403:V476I;ENSP00000446358:V476I	ENSP00000320006:V476I	V	-	1	0	MPDZ	13195963	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.095000	0.01350	-1.007000	0.03408	-0.812000	0.03155	GTC	-	superfamily_PDZ		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	C	NM_003829	-		13205963	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	SNP	0.000	T	T	13205963	C	T	13205963	3	4	97	1	0	0	0	0	1	0	0	0	9724	536	19	1	4843	1	MPDZ	9	13205963	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09		13205963	128007468	35	5552											
TRPM6	140803	genome.wustl.edu	37	chr9	77436669	77436669	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccactgggtccttgTccttgacagtctcccacact	6	17	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:77436669T>A	ENST00000360774.1	-	8	1163	c.926A>T	c.(925-927)gAc>gTc	p.D309V	TRPM6_ENST00000361255.3_Missense_Mutation_p.D304V|TRPM6_ENST00000451710.3_Missense_Mutation_p.D309V|TRPM6_ENST00000376871.3_Missense_Mutation_p.D309V|TRPM6_ENST00000376864.4_Missense_Mutation_p.D309V|TRPM6_ENST00000376872.3_Missense_Mutation_p.D309V|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.D304V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	309					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGGTCCTTGTCCTTGACAGT	0.592																																																	0								ENSG00000119121						154	109	124					9																	77436669		2203	4300	6503	TRPM6	SO:0001583	missense	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.926A>T	9.37:g.77436669T>A	ENSP00000354006:p.Asp309Val	Somatic	0	110	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D309V	ENST00000360774.1	37	c.926	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	T	15.68	2.905653	0.52333	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.47	5.47	0.80525	.	0.344486	0.36200	N	0.002735	T	0.32704	0.0838	L	0.60845	1.875	0.39819	D	0.972806	B;P;B;B	0.34724	0.279;0.465;0.167;0.145	B;B;B;B	0.33521	0.124;0.165;0.104;0.043	T	0.35325	-0.9793	10	0.66056	D	0.02	.	7.0396	0.25013	0.0:0.0779:0.162:0.76	.	309;309;309;304	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	V	309;309;309;309;304;304;309	ENSP00000354006:D309V;ENSP00000407341:D309V;ENSP00000366068:D309V;ENSP00000366067:D309V;ENSP00000396672:D304V;ENSP00000354962:D304V;ENSP00000366060:D309V	ENSP00000354006:D309V	D	-	2	0	TRPM6	76626489	0.023000	0.18921	0.771000	0.31576	0.949000	0.60115	1.827000	0.39102	2.075000	0.62263	0.459000	0.35465	GAC	-	NULL		0.592	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	T	NM_017662	-		77436669	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	SNP	0.883	A	A	77436669	T	A	77436669	3	1	97	1	0	0	0	0	1	0	0	0	16597	1667	58	5	5270	5	TRPM6	9	77436669	Missense_Mutation	SNP	T	TCGA-DX-A8BK-01A-11D-A37C-09	64230706	77436669	63776762	36	5553											
FBP1	2203	genome.wustl.edu	37	chr9	97367745	97367746	+	Frame_Shift_Ins	INS	-	-	T													gggacacccttacctttccaINSttggggctcttcttgttagc					rs143965326		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:97367745_97367746insT	ENST00000375326.4	-	6	1014_1015	c.818_819insA	c.(817-819)aatfs	p.N273fs	FBP1_ENST00000415431.1_Frame_Shift_Ins_p.N273fs	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	273					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTACCTTTCCATTGGGGCTCTT	0.515																																					Ovarian(142;590 2466 25593 44496)												0								ENSG00000165140																																			FBP1	SO:0001589	frameshift_variant	0				HGNC	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.819dupA	9.37:g.97367747_97367747dupT	ENSP00000364475:p.Asn273fs	Somatic	0	57	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	O75571|Q53F94|Q96E46	Frame_Shift_Ins	INS							pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.N273fs	ENST00000375326.4	37	c.819_818	CCDS6712.1	9																																																																																			-	pfam_FBPase_class-1/SBPase		0.515	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP1	protein_coding	OTTHUMT00000053187.1	-	NM_000507			97367746	-1	no_errors	ENST00000375326	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.201	T	T	97367746	-	T	97367745	7	5	97	1	0	1	1	0	0	0	0	0	5707	214	8	0	205	0	FBP1	9	97367745	Frame_Shift_Ins	INS	-	TCGA-DX-A8BK-01A-11D-A37C-09	19931076	97367745	43845686	37	5554											
FAM69B	138311	genome.wustl.edu	37	chr9	139617549	139617551	+	In_Frame_Del	DEL	CTG	CTG	-													tgctgcagcgtaacgagttcCtgctgctgctgtccctgcag							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:139617549_139617551delCTG	ENST00000371692.4	+	5	715_717	c.619_621delCTG	c.(619-621)ctgdel	p.L210del	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_In_Frame_Del_p.L123del|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	210						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TAACGAGTTCCTGCTGCTGCTGT	0.65																																																	0								ENSG00000165716																																			FAM69B	SO:0001651	inframe_deletion	0				HGNC		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.619_621delCTG	9.37:g.139617558_139617560delCTG	ENSP00000360757:p.Leu210del	Somatic	0	35	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q5VUD7|Q8N5N0|Q8WYU5	In_Frame_Del	DEL							pfam_FAM69_kinase_dom	p.L210in_frame_del	ENST00000371692.4	37	c.619_621	CCDS7004.1	9																																																																																			-	pfam_FAM69_kinase_dom		0.65	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	protein_coding	OTTHUMT00000055102.1	CTG	NM_152421			139617551	1	no_errors	ENST00000371692	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.947	-	-	139617551	CTG	-	139617549	7	5	97	1	0	1	0	1	0	0	0	0	5605	680	24	0	637	0	FAM69B	9	139617549	In_Frame_Del	DEL	CTG	TCGA-DX-A8BK-01A-11D-A37C-09	42249804	139617549	1595882	38	5555											
EXD3	54932	genome.wustl.edu	37	chr9	140243836	140243836	+	Frame_Shift_Del	DEL	G	G	-													cacacctgcgtagatgacctGctcctcgcagagcggcctcc							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:140243836delG	ENST00000340951.4	-	15	1837	c.1642delC	c.(1642-1644)cagfs	p.Q548fs	EXD3_ENST00000342129.4_Frame_Shift_Del_p.Q228fs	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TAGATGACCTGCTCCTCGCAG	0.701																																																	0								ENSG00000187609						20	26	24					9																	140243836		2086	4208	6294	EXD3	SO:0001589	frameshift_variant	0				HGNC		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1642delC	9.37:g.140243836delG	ENSP00000340474:p.Gln548fs	Somatic	0	59	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL							pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.Q548fs	ENST00000340951.4	37	c.1642	CCDS48066.1	9																																																																																			-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	protein_coding	OTTHUMT00000343182.1	G	NM_017820			140243836	-1	no_errors	ENST00000340951	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	140243836	G	-	140243836	7	5	97	1	0	1	0	1	0	0	0	0	5301	1328	46	0	1020	0	EXD3	9	140243836	Frame_Shift_Del	DEL	G	TCGA-DX-A8BK-01A-11D-A37C-09	626287	140243836	969595	39	5556											
EHMT1	79813	genome.wustl.edu	37	chr9	140611422	140611422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggactaccagcactctgGcctcttcgctgcctggccat	10	15	2	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:140611422G>T	ENST00000460843.1	+	3	457	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.A144S|EHMT1_ENST00000334856.6_Missense_Mutation_p.A113S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	144					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCACTCTGGCCTCTTCGCT	0.597																																																	0								ENSG00000181090						59	62	61					9																	140611422		2202	4300	6502	EHMT1	SO:0001583	missense	0			-	HGNC	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.430G>T	9.37:g.140611422G>T	ENSP00000417980:p.Ala144Ser	Somatic	1	120	0.82		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A144S	ENST00000460843.1	37	c.430	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	g	16.59	3.165542	0.57476	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71103	1.55;0.77;-0.54	6.0	4.16	0.48862	.	0.302356	0.28712	N	0.014391	T	0.63920	0.2552	L	0.57536	1.79	0.24110	N	0.995848	B;B;B	0.32188	0.055;0.204;0.359	B;B;B	0.33620	0.036;0.124;0.167	T	0.50558	-0.8814	10	0.17369	T	0.5	.	10.6544	0.45667	0.1491:0.0:0.8509:0.0	.	144;113;144	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	S	113;113;144;144	ENSP00000334476:A113S;ENSP00000417328:A144S;ENSP00000417980:A144S	ENSP00000334476:A113S	A	+	1	0	EHMT1	139731243	1.000000	0.71417	0.069000	0.20011	0.968000	0.65278	2.939000	0.48995	0.872000	0.35775	0.639000	0.83563	GCC	-	NULL		0.597	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	protein_coding	OTTHUMT00000055371.2	G	NM_024757	-		140611422	1	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	SNP	0.935	T	T	140611422	G	T	140611422	3	4	97	1	0	0	0	0	1	0	0	0	4985	1203	42	3	440	3	EHMT1	9	140611422	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	367586	140611422	602009	40	5557											
PFKP	5214	genome.wustl.edu	37	chr10	3146003	3146003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggccgtgcagaagtacGcctacctcaacgtggtgggc	15	11	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr10:3146003G>A	ENST00000381125.4	+	5	563	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	PFKP_ENST00000421751.1_3'UTR|PFKP_ENST00000381075.2_Missense_Mutation_p.A155T	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	163	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCAGAAGTACGCCTACCTCAA	0.622																																																	0								ENSG00000067057						110	83	92					10																	3146003		2203	4300	6503	PFKP	SO:0001583	missense	0			-	HGNC	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.487G>A	10.37:g.3146003G>A	ENSP00000370517:p.Ala163Thr	Somatic	0	68	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP							pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A163T	ENST00000381125.4	37	c.487	CCDS7059.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379974	0.42207	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.32	-5.82	0.02333	Phosphofructokinase domain (2);	0.586313	0.18854	N	0.129313	T	0.65647	0.2711	L	0.50333	1.59	0.09310	N	1	B;P	0.39696	0.249;0.683	B;B	0.36567	0.046;0.228	T	0.60647	-0.7222	10	0.24483	T	0.36	.	7.7948	0.29141	0.1266:0.0:0.3491:0.5243	.	155;163	Q5VSR7;Q01813	.;K6PP_HUMAN	T	163;152;155;125;125	ENSP00000370517:A163T;ENSP00000370465:A155T;ENSP00000410590:A125T;ENSP00000385880:A125T	ENSP00000370465:A155T	A	+	1	0	PFKP	3136003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.535000	0.23114	-0.959000	0.03618	-0.806000	0.03193	GCC	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.622	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	protein_coding	OTTHUMT00000046454.1	G	NM_002627	-		3146003	1	no_errors	ENST00000381125	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3146003	G	A	3146003	3	1	97	1	0	0	0	0	1	0	0	0	11768	1087	38	1	505	1	PFKP	10	3146003	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		3146003	132388744	41	5558											
OBFC1	79991	genome.wustl.edu	37	chr10	105658736	105658736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atccttgcaatttgaatgttCcacactgggtcgtccacttt	7	11	0	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr10:105658736C>A	ENST00000224950.3	-	6	647	c.480G>T	c.(478-480)tgG>tgT	p.W160C	OBFC1_ENST00000369764.1_Missense_Mutation_p.W160C|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	160					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TTTGAATGTTCCACACTGGGT	0.423																																																	0								ENSG00000107960						109	100	103					10																	105658736		2203	4300	6503	OBFC1	SO:0001583	missense	0			-	HGNC	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.480G>T	10.37:g.105658736C>A	ENSP00000224950:p.Trp160Cys	Somatic	0	79	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	D3DR99|Q5TCZ0	Missense_Mutation	SNP							pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1	p.W160C	ENST00000224950.3	37	c.480	CCDS7552.1	10	.	.	.	.	.	.	.	.	.	.	C	5.609	0.297144	0.10622	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.44881	0.91;0.91	5.89	4.06	0.47325	Nucleic acid-binding, OB-fold-like (1);Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.244296	0.49305	N	0.000145	T	0.19485	0.0468	N	0.04746	-0.17	0.47183	D	0.999349	B	0.09022	0.002	B	0.12156	0.007	T	0.05273	-1.0895	10	0.17369	T	0.5	-1.1661	8.175	0.31276	0.1418:0.6259:0.2323:0.0	.	160	Q9H668	STN1_HUMAN	C	160	ENSP00000224950:W160C;ENSP00000358779:W160C	ENSP00000224950:W160C	W	-	3	0	OBFC1	105648726	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	0.655000	0.24933	0.842000	0.35045	0.555000	0.69702	TGG	-	pfam_CST_STN1_C,superfamily_NA-bd_OB-fold,pirsf_CST_STN1		0.423	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	protein_coding	OTTHUMT00000050174.1	C	NM_024928	-		105658736	-1	no_errors	ENST00000224950	ensembl	human	known	74_37	missense	SNP	0.998	A	A	105658736	C	A	105658736	3	1	97	1	0	0	0	0	1	0	0	0	10809	856	30	3	646	3	OBFC1	10	105658736	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	102512733	105658736	29876011	42	5559											
SYT8	90019	genome.wustl.edu	37	chr11	1856592	1856592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtctcctgcctcctctGtgctgcctgctgctgctgcc	9	19	2	0	rs148442765		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:1856592G>T	ENST00000381968.3	+	3	331	c.203G>T	c.(202-204)tGt>tTt	p.C68F	SYT8_ENST00000535046.1_Missense_Mutation_p.C206F|SYT8_ENST00000436964.2_Missense_Mutation_p.C54F|SYT8_ENST00000341958.3_Missense_Mutation_p.C54F	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	68	Cys-rich.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCCTCCTCTGTGCTGCCTGC	0.701																																																	0								ENSG00000149043						16	19	18					11																	1856592		2189	4282	6471	SYT8	SO:0001583	missense	0			-	HGNC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.203G>T	11.37:g.1856592G>T	ENSP00000371394:p.Cys68Phe	Somatic	0	81	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A6NFJ4|Q9NSV9	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.C68F	ENST00000381968.3	37	c.203	CCDS7726.2	11	.	.	.	.	.	.	.	.	.	.	g	12.37	1.916668	0.33815	.	.	ENSG00000149043	ENST00000436964;ENST00000430303;ENST00000417052;ENST00000535046;ENST00000381968;ENST00000341958	T;T;T;T;T;T	0.59502	1.03;0.26;0.34;1.26;2.36;2.4	3.34	3.34	0.38264	.	.	.	.	.	T	0.70666	0.3250	M	0.84326	2.69	0.45139	D	0.998151	P;P;P;P	0.50943	0.94;0.94;0.901;0.901	P;P;B;B	0.59056	0.851;0.656;0.333;0.333	T	0.71576	-0.4551	9	0.41790	T	0.15	.	9.3844	0.38333	0.0:0.0:0.7865:0.2135	.	54;54;68;54	C9JSK3;B4DDZ3;Q8NBV8;A6NCR4	.;.;SYT8_HUMAN;.	F	54;54;54;206;68;54	ENSP00000414626:C54F;ENSP00000392469:C54F;ENSP00000387678:C54F;ENSP00000443325:C206F;ENSP00000371394:C68F;ENSP00000343691:C54F	ENSP00000343691:C54F	C	+	2	0	SYT8	1813168	0.955000	0.32602	0.269000	0.24586	0.125000	0.20455	1.481000	0.35476	1.900000	0.55004	0.305000	0.20034	TGT	-	NULL		0.701	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	protein_coding	OTTHUMT00000025013.4	G		-		1856592	1	no_errors	ENST00000381968	ensembl	human	known	74_37	missense	SNP	0.513	T	T	1856592	G	T	1856592	3	4	97	1	0	0	0	0	1	0	0	0	15487	1377	48	3	213	3	SYT8	11	1856592	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		1856592	133149924	43	5560											
MPPED2	744	genome.wustl.edu	37	chr11	30557692	30557692	+	Frame_Shift_Del	DEL	T	T	-													aaccgcgtgtggcccgctggTtttggagtgtcatatgggat							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:30557692delT	ENST00000358117.5	-	2	281	c.159delA	c.(157-159)aaafs	p.K53fs	MPPED2_ENST00000448418.2_Frame_Shift_Del_p.K53fs	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	53					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GGCCCGCTGGTTTTGGAGTGT	0.478																																																	0								ENSG00000066382						86	86	86					11																	30557692		2202	4299	6501	MPPED2	SO:0001589	frameshift_variant	0				HGNC	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.159delA	11.37:g.30557692delT	ENSP00000350833:p.Lys53fs	Somatic	0	106	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	D3DQZ5|E9PB10|Q59GE6	Frame_Shift_Del	DEL							pfam_PEstase_dom	p.K53fs	ENST00000358117.5	37	c.159	CCDS7870.1	11																																																																																			-	NULL		0.478	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	protein_coding	OTTHUMT00000388155.2	T	NM_001584			30557692	-1	no_errors	ENST00000358117	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	30557692	T	-	30557692	7	5	97	1	0	1	0	1	0	0	0	0	9744	1722	60	0	817	0	MPPED2	11	30557692	Frame_Shift_Del	DEL	T	TCGA-DX-A8BK-01A-11D-A37C-09	28701100	30557692	104448824	44	5561											
HSD17B12	51144	genome.wustl.edu	37	chr11	43876788	43876788	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcactatctgaagaaaaccaAgaagaactaagcattgataa	6	7	2	5			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:43876788A>T	ENST00000278353.4	+	11	1048	c.929A>T	c.(928-930)aAg>aTg	p.K310M	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	310					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						AAGAAAACCAAGAAGAACTAA	0.413																																					Ovarian(58;548 1143 13948 16572 34258)												0								ENSG00000149084						107	105	106					11																	43876788		2203	4300	6503	HSD17B12	SO:0001583	missense	0			-	HGNC	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.929A>T	11.37:g.43876788A>T	ENSP00000278353:p.Lys310Met	Somatic	0	37	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.K310M	ENST00000278353.4	37	c.929	CCDS7905.1	11	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912855	0.52439	.	.	ENSG00000149084	ENST00000278353	T	0.79141	-1.24	5.63	5.63	0.86233	.	0.083871	0.85682	D	0.000000	T	0.77363	0.4119	M	0.81942	2.565	0.80722	D	1	P	0.44260	0.83	B	0.36244	0.22	T	0.81525	-0.0893	10	0.59425	D	0.04	-9.5006	14.6733	0.68961	1.0:0.0:0.0:0.0	.	310	Q53GQ0	DHB12_HUMAN	M	310	ENSP00000278353:K310M	ENSP00000278353:K310M	K	+	2	0	HSD17B12	43833364	1.000000	0.71417	0.994000	0.49952	0.578000	0.36192	6.746000	0.74866	2.137000	0.66172	0.482000	0.46254	AAG	-	NULL		0.413	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	protein_coding	OTTHUMT00000389594.1	A		-		43876788	1	no_errors	ENST00000278353	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43876788	A	T	43876788	3	4	97	1	0	0	0	0	1	0	0	0	7383	72	3	5	971	5	HSD17B12	11	43876788	Missense_Mutation	SNP	A	TCGA-DX-A8BK-01A-11D-A37C-09	13319096	43876788	91129728	45	5562											
OR5M1	390168	genome.wustl.edu	37	chr11	56380055	56380055	+	Frame_Shift_Del	DEL	T	T	-													actgcaattttatgaaaggaTtttcccctaatcatttgttg							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:56380055delT	ENST00000526538.1	-	1	923	c.924delA	c.(922-924)aaafs	p.K308fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	308						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TATGAAAGGATTTTCCCCTAA	0.378																																																	0								ENSG00000255012						138	137	137					11																	56380055		1849	4098	5947	OR5M1	SO:0001589	frameshift_variant	0				HGNC	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.924delA	11.37:g.56380055delT	ENSP00000435416:p.Lys308fs	Somatic	0	92	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	Q6IF60|Q96RB6	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K308fs	ENST00000526538.1	37	c.924	CCDS53631.1	11																																																																																			-	NULL		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	T	NM_001004740			56380055	-1	no_errors	ENST00000526538	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	56380055	T	-	56380055	7	5	97	1	0	1	0	1	0	0	0	0	11174	1490	52	0	27	0	OR5M1	11	56380055	Frame_Shift_Del	DEL	T	TCGA-DX-A8BK-01A-11D-A37C-09	12503267	56380055	78626461	46	5563											
MS4A2	2206	genome.wustl.edu	37	chr11	59860903	59860903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggagcaaacactgccAgcagcatagctgggggaacg	15	11	0	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:59860903A>G	ENST00000278888.3	+	5	511	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	137					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAACACTGCCAGCAGCATAGC	0.468																																																	0								ENSG00000149534						111	103	105					11																	59860903		2201	4295	6496	MS4A2	SO:0001583	missense	0			-	HGNC	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.409A>G	11.37:g.59860903A>G	ENSP00000278888:p.Ser137Gly	Somatic	0	106	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q54A81	Missense_Mutation	SNP							pfam_CD20-like	p.S137G	ENST00000278888.3	37	c.409	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282700	0.80692	.	.	ENSG00000149534	ENST00000278888	T	0.05447	3.44	4.33	3.16	0.36331	.	0.189494	0.52532	D	0.000063	T	0.26955	0.0660	M	0.92738	3.34	0.19945	N	0.999946	D;D	0.65815	0.995;0.99	D;D	0.69307	0.963;0.933	T	0.09400	-1.0676	10	0.66056	D	0.02	-21.7658	7.1361	0.25529	0.801:0.0:0.0:0.199	.	67;137	Q14298;Q01362	.;FCERB_HUMAN	G	137	ENSP00000278888:S137G	ENSP00000278888:S137G	S	+	1	0	MS4A2	59617479	0.946000	0.32159	0.201000	0.23476	0.893000	0.52053	2.116000	0.41930	0.946000	0.37632	0.528000	0.53228	AGC	-	pfam_CD20-like		0.468	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	protein_coding	OTTHUMT00000393844.1	A		-		59860903	1	no_errors	ENST00000278888	ensembl	human	known	74_37	missense	SNP	0.231	G	G	59860903	A	G	59860903	3	3	97	1	0	0	0	0	1	0	0	0	9862	188	7	5	427	5	MS4A2	11	59860903	Missense_Mutation	SNP	A	TCGA-DX-A8BK-01A-11D-A37C-09	3480848	59860903	75145613	47	5564											
SIK2	23235	genome.wustl.edu	37	chr11	111591379	111591379	+	Frame_Shift_Del	DEL	C	C	-													cttcataagcctgagacctaCcaacccagccatgcaggctc							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:111591379delC	ENST00000304987.3	+	11	1846	c.1673delC	c.(1672-1674)accfs	p.T558fs	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	558					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTGAGACCTACCAACCCAGCC	0.542																																																	0								ENSG00000170145						115	112	113					11																	111591379		2201	4297	6498	SIK2	SO:0001589	frameshift_variant	0				HGNC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1673delC	11.37:g.111591379delC	ENSP00000305976:p.Thr558fs	Somatic	0	93	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N559fs	ENST00000304987.3	37	c.1673	CCDS8347.1	11																																																																																			-	pirsf_Ser/Thr_kinase_SIK1/2		0.542	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	protein_coding	OTTHUMT00000319352.3	C	NM_015191			111591379	1	no_errors	ENST00000304987	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	111591379	C	-	111591379	7	5	97	1	0	1	0	1	0	0	0	0	14326	507	18	0	1715	0	SIK2	11	111591379	Frame_Shift_Del	DEL	C	TCGA-DX-A8BK-01A-11D-A37C-09	51730476	111591379	23415137	48	5565											
DSCAML1	57453	genome.wustl.edu	37	chr11	117308034	117308034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgatggctgtgataggGcagcccccattgttccagcc	12	12	0	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:117308034G>A	ENST00000321322.6	-	26	4705	c.4704C>T	c.(4702-4704)tgC>tgT	p.C1568C	DSCAML1_ENST00000527706.1_Silent_p.C1298C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1508	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CTGTGATAGGGCAGCCCCCAT	0.627																																																	0								ENSG00000177103						129	120	123					11																	117308034		2201	4296	6497	DSCAML1	SO:0001819	synonymous_variant	0			-	HGNC		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.4704C>T	11.37:g.117308034G>A		Somatic	0	58	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C1568	ENST00000321322.6	37	c.4704	CCDS8384.1	11																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	G	NM_020693	-		117308034	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	SNP	1.000	A	A	117308034	G	A	117308034	2	1	97	1	0	0	0	0	0	0	0	1	4771	1195	42	2		2	DSCAML1	11	117308034	Silent	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	5716655	117308034	17698482	49	5566											
MLL	4297	genome.wustl.edu	37	chr11	118343956	118343956	+	Frame_Shift_Del	DEL	C	C	-													tttgatatgcacaaaaggagCcctcttctgagagctccaag							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:118343956delC	ENST00000389506.5	+	3	2082	c.2082delC	c.(2080-2082)agcfs	p.S694fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.S694fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.S694fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	694					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAAAAGGAGCCCTCTTCTGA	0.453																																																	0								ENSG00000118058						58	58	58					11																	118343956		2200	4296	6496	KMT2A	SO:0001589	frameshift_variant	0				HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2082delC	11.37:g.118343956delC	ENSP00000374157:p.Ser694fs	Somatic	0	66	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P695fs	ENST00000389506.5	37	c.2082	CCDS31686.1	11																																																																																			-	pirsf_MeTrfase_trithorax		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	C	NM_005933			118343956	1	no_errors	ENST00000389506	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	118343956	C	-	118343956	7	5	97	1	0	1	0	1	0	0	0	0	9622	738	26	0	2092	0	MLL	11	118343956	Frame_Shift_Del	DEL	C	TCGA-DX-A8BK-01A-11D-A37C-09	1035922	118343956	16662560	50	5567											
NOP2	4839	genome.wustl.edu	37	chr12	6671112	6671112	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accacttgcccaggggatccAggttaaccccacgattgatt	9	13	0	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:6671112A>T	ENST00000322166.5	-	10	1125	c.1004T>A	c.(1003-1005)cTg>cAg	p.L335Q	NOP2_ENST00000382421.3_Missense_Mutation_p.L368Q|NOP2_ENST00000537442.1_Missense_Mutation_p.L335Q|NOP2_ENST00000399466.2_Missense_Mutation_p.L331Q|NOP2_ENST00000545200.1_Missense_Mutation_p.L331Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.L331Q	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	335					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGGGATCCAGGTTAACCCC	0.473																																																	0								ENSG00000111641						79	80	80					12																	6671112		1904	4122	6026	NOP2	SO:0001583	missense	0			-	HGNC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1004T>A	12.37:g.6671112A>T	ENSP00000313272:p.Leu335Gln	Somatic	0	120	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP							pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.L335Q	ENST00000322166.5	37	c.1004	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618051	0.87359	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.80120	-0.1515	10	0.87932	D	0	-3.1253	15.2651	0.73654	1.0:0.0:0.0:0.0	.	331;331	Q05BA7;P46087-2	.;.	Q	335;368;331;331;335;331;211	ENSP00000444437:L335Q;ENSP00000371858:L368Q;ENSP00000439422:L331Q;ENSP00000382392:L331Q;ENSP00000313272:L335Q;ENSP00000443150:L331Q;ENSP00000440754:L211Q	ENSP00000313272:L335Q	L	-	2	0	NOP2	6541373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.441000	0.80485	1.998000	0.58463	0.533000	0.62120	CTG	-	pfam_Fmu/NOL1/Nop2p,tigrfam_Nop2p		0.473	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	protein_coding	OTTHUMT00000402614.1	A	NM_006170	-		6671112	-1	no_errors	ENST00000322166	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6671112	A	T	6671112	3	4	97	1	0	0	0	0	1	0	0	0	10540	188	7	5	1462	5	NOP2	12	6671112	Missense_Mutation	SNP	A	TCGA-DX-A8BK-01A-11D-A37C-09		6671112	127180783	51	5568											
LRRK2	120892	genome.wustl.edu	37	chr12	40689357	40689357	+	Frame_Shift_Del	DEL	A	A	-													atattgatgccctaagccagAaatgctgtataagtgttcat							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:40689357delA	ENST00000298910.7	+	23	3065	c.3007delA	c.(3007-3009)aaafs	p.K1003fs	LRRK2_ENST00000343742.2_Frame_Shift_Del_p.K1003fs	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1003					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTAAGCCAGAAATGCTGTAT	0.393																																																	0								ENSG00000188906						78	73	75					12																	40689357		2203	4300	6503	LRRK2	SO:0001589	frameshift_variant	0				HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3007delA	12.37:g.40689357delA	ENSP00000298910:p.Lys1003fs	Somatic	0	48	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.K1003fs	ENST00000298910.7	37	c.3007	CCDS31774.1	12																																																																																			-	NULL		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	A	XM_058513			40689357	1	no_errors	ENST00000298910	ensembl	human	known	74_37	frame_shift_del	DEL	0.937	-	-	40689357	A	-	40689357	7	5	97	1	0	1	0	1	0	0	0	0	9035	247	9	0	3097	0	LRRK2	12	40689357	Frame_Shift_Del	DEL	A	TCGA-DX-A8BK-01A-11D-A37C-09	34018245	40689357	93162538	52	5569											
KRT82	3888	genome.wustl.edu	37	chr12	52797693	52797693	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctccaggaaacggaCctgcagccaagaatggaata	10	11	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:52797693C>A	ENST00000257974.2	-	2	489	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	138	Coil 1A.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGAAACGGACCTGCAGCCAA	0.542																																																	0								ENSG00000161850						30	27	28					12																	52797693		2203	4300	6503	KRT82	SO:0001630	splice_region_variant	0			-	HGNC	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.412-1G>T	12.37:g.52797693C>A		Somatic	0	43	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Missense_Mutation	SNP							pfam_IF,prints_Keratin_II,prints_Keratin_I	p.V138F	ENST00000257974.2	37	c.412	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903610	0.72754	.	.	ENSG00000161850	ENST00000257974	D	0.95885	-3.84	5.14	5.14	0.70334	Filament (1);	0.000000	0.45361	D	0.000379	D	0.98701	0.9564	H	0.97732	4.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	.	18.9829	0.92761	0.0:1.0:0.0:0.0	.	138	Q9NSB4	KRT82_HUMAN	F	138	ENSP00000257974:V138F	ENSP00000257974:V138F	V	-	1	0	KRT82	51083960	1.000000	0.71417	0.996000	0.52242	0.342000	0.28953	7.557000	0.82243	2.569000	0.86673	0.462000	0.41574	GTC	-	pfam_IF		0.542	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	protein_coding	OTTHUMT00000405189.1	C	NM_033033	-	Missense_Mutation	52797693	-1	no_errors	ENST00000257974	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52797693	C	A	52797693	5	1	97	1	0	0	0	0	0	0	1	0	8498	521	18	3	1161	3	KRT82	12	52797693	Splice_Site	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	12108336	52797693	81054202	53	5570											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58020582	58020582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagagcagccggtgtttgGccatctggctctcgtccagt	13	11	2	2	rs17454674	byFrequency	TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:58020582G>T	ENST00000341156.4	-	11	2131	c.1547C>A	c.(1546-1548)gCc>gAc	p.A516D	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A461D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	516			A -> V (in dbSNP:rs17454674).		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)			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)			CCGGTGTTTGGCCATCTGGCT	0.587																																																	0								ENSG00000135454						181	148	159					12																	58020582		2203	4300	6503	B4GALNT1	SO:0001583	missense	0			-	HGNC	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.1547C>A	12.37:g.58020582G>T	ENSP00000341562:p.Ala516Asp	Somatic	0	83	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DE26|Q8N636	Missense_Mutation	SNP							pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A516D	ENST00000341156.4	37	c.1547	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308487	0.40895	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.18502	2.21;2.22	4.6	4.6	0.57074	.	0.427984	0.23427	N	0.048297	T	0.20007	0.0481	L	0.29908	0.895	0.80722	D	1	D;P	0.65815	0.995;0.751	P;B	0.57911	0.829;0.128	T	0.00904	-1.1520	10	0.30078	T	0.28	-23.2201	7.0934	0.25297	0.1845:0.0:0.8154:0.0	.	461;516	B4DE26;Q00973	.;B4GN1_HUMAN	D	516;461	ENSP00000341562:A516D;ENSP00000401601:A461D	ENSP00000341562:A516D	A	-	2	0	B4GALNT1	56306849	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	1.774000	0.38573	2.577000	0.86979	0.467000	0.42956	GCC	-	pirsf_GM2_synthase		0.587	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478	-		58020582	-1	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58020582	G	T	58020582	3	4	97	1	0	0	0	0	1	0	0	0	1266	1203	42	3	58	3	B4GALNT1	12	58020582	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	5222889	58020582	75831313	54	5571											
RIMBP2	23504	genome.wustl.edu	37	chr12	130921759	130921759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagggtccgcacggtcacGcccttggcctccaggctccg	14	16	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:130921759G>A	ENST00000261655.4	-	10	1846	c.1683C>T	c.(1681-1683)ggC>ggT	p.G561G	RIMBP2_ENST00000535703.1_Silent_p.G469G|RIMBP2_ENST00000536002.1_Silent_p.G469G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	561	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACGGTCACGCCCTTGGCCT	0.687																																																	0								ENSG00000060709						17	16	16					12																	130921759		2190	4288	6478	RIMBP2	SO:0001819	synonymous_variant	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1683C>T	12.37:g.130921759G>A		Somatic	0	56	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q96ID2	Silent	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.G561	ENST00000261655.4	37	c.1683	CCDS31925.1	12																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	-		130921759	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	SNP	0.038	A	A	130921759	G	A	130921759	2	1	97	1	0	0	0	0	0	0	0	1	13371	1074	38	1		1	RIMBP2	12	130921759	Silent	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	72901177	130921759	2930136	55	5572											
ATP11A	23250	genome.wustl.edu	37	chr13	113473690	113473690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggacttcacgccaccatcGagtgtgagcagccccagccc	11	17	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr13:113473690G>A	ENST00000487903.1	+	7	731	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ATP11A_ENST00000375645.3_Missense_Mutation_p.E215K|ATP11A_ENST00000375630.2_Missense_Mutation_p.E215K|ATP11A_ENST00000283558.8_Missense_Mutation_p.E215K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	215					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CGCCACCATCGAGTGTGAGCA	0.517																																																	0								ENSG00000068650						89	80	83					13																	113473690		2203	4300	6503	ATP11A	SO:0001583	missense	0			-	HGNC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.643G>A	13.37:g.113473690G>A	ENSP00000420387:p.Glu215Lys	Somatic	0	95	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	Q5VXT2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E215K	ENST00000487903.1	37	c.643	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.371586	0.95923	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.46063	0.89;0.88;0.89;0.89	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	L	0.58925	1.835	0.80722	D	1	D;D;P	0.89917	1.0;0.995;0.884	D;D;P	0.97110	1.0;0.934;0.832	T	0.56353	-0.7993	10	0.30078	T	0.28	.	19.0413	0.93000	0.0:0.0:1.0:0.0	.	215;215;215	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	K	215	ENSP00000420387:E215K;ENSP00000364781:E215K;ENSP00000364796:E215K;ENSP00000283558:E215K	ENSP00000283558:E215K	E	+	1	0	ATP11A	112521691	1.000000	0.71417	0.939000	0.37840	0.597000	0.36814	9.315000	0.96313	2.489000	0.83994	0.655000	0.94253	GAG	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.517	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	protein_coding	OTTHUMT00000045834.3	G	NM_015205	-		113473690	1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113473690	G	A	113473690	3	1	97	1	0	0	0	0	1	0	0	0	1119	1059	37	1	669	1	ATP11A	13	113473690	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		113473690	1696188	56	5573											
SPTB	6710	genome.wustl.edu	37	chr14	65234023	65234023	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacacggccaccactcacccAgtctcctctgcgggtctctc	7	20	4	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr14:65234023A>T	ENST00000389721.5	-	30	6299	c.6267T>A	c.(6265-6267)acT>acA	p.T2089T	SPTB_ENST00000556626.1_Silent_p.T2089T|SPTB_ENST00000389720.3_Intron|SPTB_ENST00000542895.1_Silent_p.T2089T|SPTB_ENST00000389722.3_Silent_p.T2089T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2089					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)		CCACTCACCCAGTCTCCTCTG	0.567																																																	0								ENSG00000070182						178	176	177					14																	65234023		2203	4300	6503	SPTB	SO:0001819	synonymous_variant	0			-	HGNC		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.6267T>A	14.37:g.65234023A>T		Somatic	0	81	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q15510|Q15519	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T2089	ENST00000389721.5	37	c.6267	CCDS32100.1	14																																																																																			-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.567	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	A		-		65234023	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	SNP	0.838	T	T	65234023	A	T	65234023	2	4	97	1	0	0	0	0	0	0	0	1	15125	175	7	5		5	SPTB	14	65234023	Silent	SNP	A	TCGA-DX-A8BK-01A-11D-A37C-09		65234023	42115517	57	5574											
C15orf24	56851	genome.wustl.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	AGC	AGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																																	0								ENSG00000134153																																			EMC7	SO:0001651	inframe_deletion	0				HGNC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del	Somatic	0	39	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B2RC00|Q96ED5	In_Frame_Del	DEL							pfam_DUF2012,superfamily_Carb-bd-like_fold	p.L17in_frame_del	ENST00000256545.4	37	c.50_48	CCDS10032.1	15																																																																																			-	NULL		0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EMC7	protein_coding	OTTHUMT00000251519.1	AGC	NM_020154			34393993	-1	no_errors	ENST00000256545	ensembl	human	known	74_37	in_frame_del	DEL	0.275:0.430:0.449	-	-	34393993	AGC	-	34393991	7	5	97	1	0	1	0	1	0	0	0	0	1788	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-DX-A8BK-01A-11D-A37C-09		34393991	68137401	58	5575											
DUOX2	50506	genome.wustl.edu	37	chr15	45394058	45394058	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcgctgtcatggtcccgCagcatgaagtgaaaatcctc	10	12	1	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:45394058C>A	ENST00000603300.1	-	21	2986	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	DUOX2_ENST00000389039.6_Silent_p.L928L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	928	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CATGGTCCCGCAGCATGAAGT	0.582																																																	0								ENSG00000140279						139	115	123					15																	45394058		2198	4298	6496	DUOX2	SO:0001819	synonymous_variant	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2784G>T	15.37:g.45394058C>A		Somatic	0	86	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.L928	ENST00000603300.1	37	c.2784	CCDS10117.1	15																																																																																			-	NULL		0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		C	NM_014080	-		45394058	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	SNP	1.000	A	A	45394058	C	A	45394058	2	1	97	1	0	0	0	0	0	0	0	1	4803	697	25	3		3	DUOX2	15	45394058	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	11000067	45394058	57137334	59	5576											
DUOX2	50506	genome.wustl.edu	37	chr15	45400250	45400250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccaggcaagccttacccattCctggtgttctcaaaccagta	7	14	1	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:45400250C>G	ENST00000603300.1	-	13	1771	c.1569G>C	c.(1567-1569)agG>agC	p.R523S	DUOX2_ENST00000389039.6_Missense_Mutation_p.R523S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	523	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACCCATTCCTGGTGTTCT	0.597																																																	0								ENSG00000140279						75	78	77					15																	45400250		2198	4298	6496	DUOX2	SO:0001583	missense	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1569G>C	15.37:g.45400250C>G	ENSP00000475084:p.Arg523Ser	Somatic	0	216	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	105	8.70	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R523S	ENST00000603300.1	37	c.1569	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166685	0.38217	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.46	-0.274	0.12910	.	0.314447	0.38548	N	0.001642	T	0.41926	0.1180	M	0.62723	1.935	0.24048	N	0.996057	B;B	0.33345	0.048;0.409	B;B	0.36030	0.158;0.216	T	0.34304	-0.9834	9	0.25751	T	0.34	-11.6541	11.1514	0.48462	0.0:0.5097:0.0:0.4903	.	523;85	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	S	523	.	ENSP00000373691:R523S	R	-	3	2	DUOX2	43187542	0.001000	0.12720	0.940000	0.37924	0.859000	0.49053	-0.513000	0.06305	0.044000	0.15775	-0.128000	0.14901	AGG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		C	NM_014080	-		45400250	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	SNP	0.011	G	G	45400250	C	G	45400250	3	3	97	1	0	0	0	0	1	0	0	0	4803	854	30	4	3165	4	DUOX2	15	45400250	Missense_Mutation	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	6192	45400250	57131142	60	5577											
KIAA1199	57214	genome.wustl.edu	37	chr15	81234301	81234301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattccaaagaacgcaggCgtcagtgactgcacagccac	10	13	1	3	rs145572198		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:81234301C>T	ENST00000394685.3	+	26	3938	c.3519C>T	c.(3517-3519)ggC>ggT	p.G1173G	KIAA1199_ENST00000220244.3_Silent_p.G1173G|KIAA1199_ENST00000356249.5_Silent_p.G1173G|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1173					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGAACGCAGGCGTCAGTGACT	0.507																																																	0								ENSG00000103888	C		1,4405	4.2+/-10.8	0,1,2202	60	58	59		3519	0.4	0	15	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	KIAA1199	NM_018689.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1173/1362	81234301	1,13005	2203	4300	6503	KIAA1199	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000394685.3:c.3519C>T	15.37:g.81234301C>T		Somatic	0	43	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP							pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.G1173	ENST00000394685.3	37	c.3519	CCDS10315.1	15																																																																																			-	NULL		0.507	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	protein_coding	OTTHUMT00000291389.1	C		rs145572198		81234301	1	no_errors	ENST00000220244	ensembl	human	known	74_37	silent	SNP	0.000	T	T	81234301	C	T	81234301	2	4	97	1	0	0	0	0	0	0	0	1	8215	755	27	1		1	KIAA1199	15	81234301	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	35834051	81234301	21297091	61	5578											
SEMA4B	10509	genome.wustl.edu	37	chr15	90744945	90744945	+	Frame_Shift_Del	DEL	C	C	-													cctccgacctgggcgctcagCccccggatcagcctgcctct							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:90744945delC	ENST00000411539.2	+	1	395	c.135delC	c.(133-135)agcfs	p.S45fs	SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.S45fs|SEMA4B_ENST00000379122.3_Frame_Shift_Del_p.S40fs	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	40	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGGCGCTCAGCCCCCGGATCA	0.771																																																	0								ENSG00000185033						2	2	2					15																	90744945		1286	2912	4198	SEMA4B	SO:0001589	frameshift_variant	0				HGNC	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.135delC	15.37:g.90744945delC	ENSP00000394720:p.Ser45fs	Somatic	0	17	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Frame_Shift_Del	DEL							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R47fs	ENST00000411539.2	37	c.135	CCDS45347.1	15																																																																																			-	superfamily_Semap_dom,pfscan_Semap_dom		0.771	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	protein_coding	OTTHUMT00000416810.1	C	NM_198925			90744945	1	no_errors	ENST00000332496	ensembl	human	known	74_37	frame_shift_del	DEL	0.781	-	-	90744945	C	-	90744945	7	5	97	1	0	1	0	1	0	0	0	0	14040	738	26	0	137	0	SEMA4B	15	90744945	Frame_Shift_Del	DEL	C	TCGA-DX-A8BK-01A-11D-A37C-09	9510644	90744945	11786447	62	5579											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1812437	1812437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaccagtacaaggagcGgctgatggagctgcaggagg	18	8	0	1	rs62040026		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr16:1812437G>A	ENST00000250894.4	+	14	1779	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R535Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	541					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TACAAGGAGCGGCTGATGGAG	0.667																																																	0								ENSG00000138834						50	63	58					16																	1812437		2159	4274	6433	MAPK8IP3	SO:0001583	missense	0			-	HGNC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1622G>A	16.37:g.1812437G>A	ENSP00000250894:p.Arg541Gln	Somatic	0	146	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	78	8.24	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP							pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R541Q	ENST00000250894.4	37	c.1622	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	37	6.545660	0.97654	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.43294	0.95;0.95	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.996;0.977;0.998	P;P;D	0.77557	0.895;0.65;0.99	T	0.65496	-0.6154	10	0.87932	D	0	-33.0926	19.4876	0.95035	0.0:0.0:1.0:0.0	.	542;535;541	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	541;535	ENSP00000250894:R541Q;ENSP00000348290:R535Q	ENSP00000250894:R541Q	R	+	2	0	MAPK8IP3	1752438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.394000	0.97261	2.700000	0.92200	0.655000	0.94253	CGG	-	NULL		0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	protein_coding	OTTHUMT00000250508.2	G	NM_001040439	-		1812437	1	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1812437	G	A	1812437	3	1	97	1	0	0	0	0	1	0	0	0	9288	1116	39	1	1692	1	MAPK8IP3	16	1812437	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		1812437	88542316	63	5580											
NLRP1	22861	genome.wustl.edu	37	chr17	5436697	5436697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagcaacatgggaagcCgccctctctacagaaaaaag	10	12	1	2			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr17:5436697C>T	ENST00000572272.1	-	10	3059	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	NLRP1_ENST00000354411.3_Silent_p.A990A|NLRP1_ENST00000262467.5_Silent_p.A1020A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.A1020A|NLRP1_ENST00000345221.3_Silent_p.A1020A|NLRP1_ENST00000577119.1_Silent_p.A990A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1020					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				catgggaagccgccctctcta	0.527																																																	0								ENSG00000091592						61	55	57					17																	5436697		1327	2309	3636	NLRP1	SO:0001819	synonymous_variant	0			-	HGNC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3060G>A	17.37:g.5436697C>T		Somatic	0	16	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP							pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.A1020	ENST00000572272.1	37	c.3060	CCDS42246.1	17																																																																																			-	NULL		0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	protein_coding	OTTHUMT00000439517.1	C	NM_033004	-		5436697	-1	no_errors	ENST00000572272	ensembl	human	known	74_37	silent	SNP	0.001	T	T	5436697	C	T	5436697	2	4	97	1	0	0	0	0	0	0	0	1	10473	639	23	1		1	NLRP1	17	5436697	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09		5436697	75758513	64	5581											
TP53	7157	genome.wustl.edu	37	chr17	7578290	7578290	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgctgaggaggggccagacCtaagagcaatcagtgaggaa	15	7	1	4			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr17:7578290C>G	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S		ENSG00000141510						82	74	76					17																	7578290		2203	4300	6503	TP53	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;	-	HGNC	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.560-1G>C	17.37:g.7578290C>G		Somatic	0	84	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	11	66.67	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							-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883886	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	-	-		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578290	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	7578290	C	G	7578290	5	3	97	1	0	0	0	0	0	0	1	0	16388	695	24	4	735	4	TP53	17	7578290	Splice_Site	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09	2141593	7578290	73616920	65	5582											
NOL4	8715	genome.wustl.edu	37	chr18	31537461	31537461	+	Frame_Shift_Del	DEL	T	T	-													attcggtccaagttttcatcTacaaacagcctgacaaacat							TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr18:31537461delT	ENST00000261592.5	-	8	1554	c.1257delA	c.(1255-1257)gtafs	p.V419fs	NOL4_ENST00000535384.1_Frame_Shift_Del_p.V134fs|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000538587.1_Frame_Shift_Del_p.V345fs|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	419						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGTTTTCATCTACAAACAGCC	0.478																																																	0								ENSG00000101746						73	61	65					18																	31537461		2203	4300	6503	NOL4	SO:0001589	frameshift_variant	0				HGNC	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1257delA	18.37:g.31537461delT	ENSP00000261592:p.Val419fs	Somatic	0	61	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Frame_Shift_Del	DEL							NULL	p.D420fs	ENST00000261592.5	37	c.1257	CCDS11907.2	18																																																																																			-	NULL		0.478	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	T	NM_003787			31537461	-1	no_errors	ENST00000261592	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	31537461	T	-	31537461	7	5	97	1	0	1	0	1	0	0	0	0	10526	1509	53	0	675	0	NOL4	18	31537461	Frame_Shift_Del	DEL	T	TCGA-DX-A8BK-01A-11D-A37C-09		31537461	46539787	66	5583											
COMP	1311	genome.wustl.edu	37	chr19	18895027	18895027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcccacttggggccggtgCtgcaggaaccaacgatagga	14	11	0	0			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:18895027C>T	ENST00000222271.2	-	17	2105	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	COMP_ENST00000425807.1_Silent_p.Q634Q|COMP_ENST00000542601.2_Silent_p.Q654Q	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	687	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGGCCGGTGCTGCAGGAACC	0.637																																																	0								ENSG00000105664						95	82	86					19																	18895027		2203	4300	6503	COMP	SO:0001819	synonymous_variant	0			-	HGNC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.2061G>A	19.37:g.18895027C>T		Somatic	0	106	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP							pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q687	ENST00000222271.2	37	c.2061	CCDS12385.1	19																																																																																			-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.637	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	protein_coding	OTTHUMT00000403457.1	C	NM_000095	-		18895027	-1	no_errors	ENST00000222271	ensembl	human	known	74_37	silent	SNP	1.000	T	T	18895027	C	T	18895027	2	4	97	1	0	0	0	0	0	0	0	1	3726	796	28	2		2	COMP	19	18895027	Silent	SNP	C	TCGA-DX-A8BK-01A-11D-A37C-09		18895027	40233956	67	5584											
HPN	3249	genome.wustl.edu	37	chr19	35551321	35551321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcttgggccggtggccGtggcaagtcagccttcgcta	14	13	1	0	rs35890010	byFrequency	TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:35551321G>A	ENST00000262626.2	+	8	1350	c.525G>A	c.(523-525)ccG>ccA	p.P175P	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.P175P|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCGGTGGCCGTGGCAAGTCA	0.687																																																	0								ENSG00000105707	G	,	3,4403	6.2+/-15.9	0,3,2200	62	71	68		525,525	-9.5	0.1	19	dbSNP_126	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPN	NM_002151.2,NM_182983.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	175/418,175/418	35551321	3,13003	2203	4300	6503	HPN	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.525G>A	19.37:g.35551321G>A		Somatic	0	93	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	B2RDS4	Silent	SNP							pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P175	ENST00000262626.2	37	c.525	CCDS32993.1	19																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.687	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	protein_coding	OTTHUMT00000461573.1	G	NM_002151	rs35890010		35551321	1	no_errors	ENST00000262626	ensembl	human	known	74_37	silent	SNP	0.003	A	A	35551321	G	A	35551321	2	1	97	1	0	0	0	0	0	0	0	1	7338	1132	40	1		1	HPN	19	35551321	Silent	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	16656294	35551321	23577662	68	5585											
SYT3	84258	genome.wustl.edu	37	chr19	51140536	51140536	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgcatctggaccccGgggatagcctcggattcggt	13	13	1	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:51140536G>T	ENST00000338916.4	-	1	766	c.133C>A	c.(133-135)Cgg>Agg	p.R45R	SYT3_ENST00000600079.1_Silent_p.R45R|SYT3_ENST00000544769.1_Silent_p.R45R|SYT3_ENST00000593901.1_Silent_p.R45R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	45					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCTGGACCCCGGGGATAGCCT	0.622																																																	0								ENSG00000213023						73	71	72					19																	51140536		2203	4300	6503	SYT3	SO:0001819	synonymous_variant	0			-	HGNC	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.133C>A	19.37:g.51140536G>T		Somatic	0	128	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	Q8N5Z1|Q8N640	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R45	ENST00000338916.4	37	c.133	CCDS12798.1	19																																																																																			-	NULL		0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	protein_coding	OTTHUMT00000464910.1	G	NM_032298	-		51140536	-1	no_errors	ENST00000338916	ensembl	human	known	74_37	silent	SNP	1.000	T	T	51140536	G	T	51140536	2	4	97	1	0	0	0	0	0	0	0	1	15482	1115	39	3		3	SYT3	19	51140536	Silent	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09	15589215	51140536	7988447	69	5586											
DDX17	10521	genome.wustl.edu	37	chr22	38894492	38894492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaatgcccaccatatcccGgccactaagagccaacggaa	8	15	0	1			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr22:38894492G>A	ENST00000396821.3	-	4	724	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	DDX17_ENST00000381633.3_Missense_Mutation_p.R130W|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	209	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)					ACCATATCCCGGCCACTAAGA	0.438																																					Ovarian(55;1085 1454 6392 21425)												0								ENSG00000100201						123	105	111					22																	38894492		2203	4300	6503	DDX17	SO:0001583	missense	0			-	HGNC	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.625C>T	22.37:g.38894492G>A	ENSP00000380033:p.Arg209Trp	Somatic	0	80	0		0.499397874805909				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R209W	ENST00000396821.3	37	c.625	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460804	0.84317	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.16743	2.32;2.32;2.32	5.39	4.35	0.52113	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.096756	0.64402	D	0.000002	T	0.58395	0.2119	H	0.98089	4.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.959;0.986;0.976	T	0.76634	-0.2887	10	0.87932	D	0	-15.1574	15.286	0.73828	0.0:0.0:0.8546:0.1454	.	130;211;209	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	W	209;130;209;211	ENSP00000380033:R209W;ENSP00000371046:R130W;ENSP00000385536:R209W	ENSP00000371046:R130W	R	-	1	2	DDX17	37224438	0.856000	0.29760	0.997000	0.53966	0.997000	0.91878	2.770000	0.47662	1.339000	0.45563	0.591000	0.81541	CGG	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.438	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	protein_coding	OTTHUMT00000321476.2	G	NM_030881	-		38894492	-1	no_errors	ENST00000396821	ensembl	human	known	74_37	missense	SNP	0.998	A	A	38894492	G	A	38894492	3	1	97	1	0	0	0	0	1	0	0	0	4346	1115	39	1	1610	1	DDX17	22	38894492	Missense_Mutation	SNP	G	TCGA-DX-A8BK-01A-11D-A37C-09		38894492	12410074	70	5587											
PADI2	11240	genome.wustl.edu	37	chr1	17395742	17395742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaatggcttggggatgcCcaggtccttgtccagcacga	13	13	0	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:17395742C>T	ENST00000375486.4	-	16	1858	c.1795G>A	c.(1795-1797)Ggc>Agc	p.G599S	PADI2_ENST00000444885.2_Missense_Mutation_p.G483S|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	599					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)			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)	TTGGGGATGCCCAGGTCCTTG	0.572																																																	0								ENSG00000117115						69	62	64					1																	17395742		2203	4300	6503	PADI2	SO:0001583	missense	0			-	HGNC	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.1795G>A	1.37:g.17395742C>T	ENSP00000364635:p.Gly599Ser	Somatic	0	31	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	Q96DA7|Q9UPN2	Missense_Mutation	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.G599S	ENST00000375486.4	37	c.1795	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.318480	0.95682	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.38560	1.13;1.13	5.4	4.43	0.53597	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66909	-0.5804	10	0.36615	T	0.2	-33.6548	13.6389	0.62237	0.1554:0.8446:0.0:0.0	.	483;599	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	S	599;483	ENSP00000364635:G599S;ENSP00000405894:G483S	ENSP00000364635:G599S	G	-	1	0	PADI2	17268329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.774000	0.68906	2.542000	0.85734	0.655000	0.94253	GGC	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.572	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	C		-		17395742	-1	no_errors	ENST00000375486	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17395742	C	T	17395742	3	4	98	1	0	0	0	0	1	0	0	0	11380	623	22	2	206	2	PADI2	1	17395742	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09		17395742	231854879	1	5588											
EPHA8	2046	genome.wustl.edu	37	chr1	22915658	22915658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgacctgagccccgagcCccgccgggccgctgtggtca	14	18	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:22915658C>A	ENST00000166244.3	+	5	1346	c.1274C>A	c.(1273-1275)cCc>cAc	p.P425H	EPHA8_ENST00000538803.1_Missense_Mutation_p.P425H|EPHA8_ENST00000374644.4_Missense_Mutation_p.P425H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	425	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)			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)		AGCCCCGAGCCCCGCCGGGCC	0.667																																																	0								ENSG00000070886						29	29	29					1																	22915658		2203	4298	6501	EPHA8	SO:0001583	missense	0			-	HGNC	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.1274C>A	1.37:g.22915658C>A	ENSP00000166244:p.Pro425His	Somatic	0	60	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	82	17.17	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P425H	ENST00000166244.3	37	c.1274	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049354	0.55218	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.75050	-0.9;0.86;0.86	4.52	4.52	0.55395	Fibronectin, type III (2);	0.329787	0.27831	N	0.017680	T	0.82162	0.4977	M	0.66297	2.02	0.44603	D	0.997571	B;D	0.63880	0.004;0.993	B;D	0.63877	0.003;0.919	D	0.83520	0.0085	10	0.72032	D	0.01	.	11.5401	0.50661	0.1792:0.8208:0.0:0.0	.	425;425	P29322;P29322-2	EPHA8_HUMAN;.	H	425	ENSP00000166244:P425H;ENSP00000363775:P425H;ENSP00000440274:P425H	ENSP00000166244:P425H	P	+	2	0	EPHA8	22788245	0.991000	0.36638	1.000000	0.80357	0.779000	0.44077	2.879000	0.48522	2.498000	0.84270	0.436000	0.28706	CCC	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	C	NM_020526	-		22915658	1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	SNP	0.993	A	A	22915658	C	A	22915658	3	1	98	1	0	0	0	0	1	0	0	0	5175	623	22	3	1292	3	EPHA8	1	22915658	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	5519916	22915658	226334963	2	5589											
PTPRU	10076	genome.wustl.edu	37	chr1	29630489	29630489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccctgcggtgcgtgtcGcagaccttctgcagcacatc	11	15	1	1	rs145708690	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:29630489G>A	ENST00000345512.3	+	17	2758	c.2629G>A	c.(2629-2631)Gca>Aca	p.A877T	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.A867T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A867T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A867T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A867T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A867T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	877	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGTGCGTGTCGCAGACCTTCT	0.677																																																	0								ENSG00000060656	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	51	53	52		2599,2629,2599,2599	4.1	1	1	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	867/1434,877/1447,867/1441,867/1437	29630489	1,13005	2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2629G>A	1.37:g.29630489G>A	ENSP00000334941:p.Ala877Thr	Somatic	0	40	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A877T	ENST00000345512.3	37	c.2629	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038551	0.93630	0.0	1.16E-4	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34667	1.4;1.41;1.41;1.41;1.35;1.41	4.13	4.13	0.48395	.	0.063405	0.64402	D	0.000007	T	0.51924	0.1703	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;P;P;P;P	0.58520	0.84;0.84;0.84;0.695;0.675	T	0.51568	-0.8689	9	.	.	.	.	16.6428	0.85130	0.0:0.0:1.0:0.0	.	867;867;867;867;877	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	877;867;867;867;867;867	ENSP00000334941:A877T;ENSP00000362884:A867T;ENSP00000349333:A867T;ENSP00000314987:A867T;ENSP00000392332:A867T;ENSP00000432906:A867T	.	A	+	1	0	PTPRU	29503076	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.504000	0.97986	2.592000	0.87571	0.561000	0.74099	GCA	-	NULL		0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	G		rs145708690		29630489	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29630489	G	A	29630489	3	1	98	1	0	0	0	0	1	0	0	0	12821	1087	38	1	2695	1	PTPRU	1	29630489	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	6714831	29630489	219620132	3	5590											
MAST2	23139	genome.wustl.edu	37	chr1	46493510	46493510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtcatattgaaaaggAtgcccgggaattcctggaca	13	7	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:46493510A>G	ENST00000361297.2	+	17	2310	c.2027A>G	c.(2026-2028)gAt>gGt	p.D676G	MAST2_ENST00000372009.2_Missense_Mutation_p.D606G	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATTGAAAAGGATGCCCGGGAA	0.488																																																	0								ENSG00000086015						115	112	113					1																	46493510		1891	4121	6012	MAST2	SO:0001583	missense	0			-	HGNC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2027A>G	1.37:g.46493510A>G	ENSP00000354671:p.Asp676Gly	Somatic	0	43	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67		Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.D676G	ENST00000361297.2	37	c.2027	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899314	0.91962	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.64991	-0.13;-0.13;-0.13	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054308	0.64402	D	0.000001	T	0.72787	0.3504	L	0.39397	1.21	0.80722	D	1	D;B;D;P	0.89917	0.996;0.402;1.0;0.846	D;P;D;P	0.91635	0.987;0.46;0.999;0.557	T	0.75673	-0.3236	10	0.87932	D	0	-16.2393	16.007	0.80370	1.0:0.0:0.0:0.0	.	606;350;606;676	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	G	676;606;350;561	ENSP00000354671:D676G;ENSP00000361079:D606G;ENSP00000361078:D561G	ENSP00000354671:D676G	D	+	2	0	MAST2	46266097	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.339000	0.96797	2.244000	0.73946	0.533000	0.62120	GAT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.488	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	A	NM_015112	-		46493510	1	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	SNP	1.000	G	G	46493510	A	G	46493510	3	3	98	1	0	0	0	0	1	0	0	0	9327	333	12	5	2093	5	MAST2	1	46493510	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	16863021	46493510	202757111	4	5591											
FAM151A	338094	genome.wustl.edu	37	chr1	55078384	55078384	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggaccagggccaggaacCtgcaaaaaaatcagagatgt	11	10	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:55078384C>A	ENST00000302250.2	-	5	736		c.e5-1		ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Splice_Site	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCAGGAACCTGCAAAAAAA	0.562																																																	0								ENSG00000162391						54	47	50					1																	55078384		2203	4300	6503	FAM151A	SO:0001630	splice_region_variant	0			-	HGNC	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.576-1G>T	1.37:g.55078384C>A		Somatic	0	27	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Splice_Site	SNP							-	e5-1	ENST00000302250.2	37	c.576-1	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123122	0.56613	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.686	0.77411	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM151A	54850972	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	5.404000	0.66344	2.298000	0.77334	0.462000	0.41574	.	-	-		0.562	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	protein_coding	OTTHUMT00000027342.1	C	NM_176782	-	Intron	55078384	-1	no_errors	ENST00000302250	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	55078384	C	A	55078384	5	1	98	1	0	0	0	0	0	0	1	0	5460	695	24	3	1198	3	FAM151A	1	55078384	Splice_Site	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	8584874	55078384	194172237	5	5592											
ETV3L	440695	genome.wustl.edu	37	chr1	157062565	157062565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggatccaggcctcccTttgcctccatcatgggagca	10	16	1	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:157062565T>A	ENST00000454449.2	-	5	1246	c.962A>T	c.(961-963)aAg>aTg	p.K321M		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	321					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGGCCTCCCTTTGCCTCCAT	0.602																																																	0								ENSG00000253831						67	65	66					1																	157062565		2203	4300	6503	ETV3L	SO:0001583	missense	0			-	HGNC	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.962A>T	1.37:g.157062565T>A	ENSP00000430271:p.Lys321Met	Somatic	0	49	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	71	22.83		Missense_Mutation	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K321M	ENST00000454449.2	37	c.962	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291778	0.40594	.	.	ENSG00000253831	ENST00000454449	T	0.36157	1.27	3.85	2.72	0.32119	.	.	.	.	.	T	0.10337	0.0253	N	0.24115	0.695	0.09310	N	1	D	0.52996	0.957	B	0.43536	0.423	T	0.06338	-1.0832	9	0.48119	T	0.1	.	4.9247	0.13887	0.0:0.2619:0.0:0.7381	.	321	Q6ZN32	ETV3L_HUMAN	M	321	ENSP00000430271:K321M	ENSP00000430271:K321M	K	-	2	0	ETV3L	155329189	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	1.951000	0.40333	0.551000	0.29008	0.459000	0.35465	AAG	-	NULL		0.602	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	protein_coding	OTTHUMT00000099024.2	T	NM_001004341	-		157062565	-1	no_errors	ENST00000454449	ensembl	human	known	74_37	missense	SNP	0.001	A	A	157062565	T	A	157062565	3	1	98	1	0	0	0	0	1	0	0	0	5282	1609	56	5	127	5	ETV3L	1	157062565	Missense_Mutation	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	101984181	157062565	92188056	6	5593											
C1orf125	126859	genome.wustl.edu	37	chr1	179380379	179380379	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagagatatctggagctcagCcacatatgaattggccctga	10	9	2	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:179380379C>G	ENST00000367618.3	+	12	1595	c.1208C>G	c.(1207-1209)gCc>gGc	p.A403G	AXDND1_ENST00000457238.2_Missense_Mutation_p.A403G|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	403										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGGAGCTCAGCCACATATGAA	0.328																																																	0								ENSG00000162779						86	101	96					1																	179380379		2203	4300	6503	AXDND1	SO:0001583	missense	0			-	HGNC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1208C>G	1.37:g.179380379C>G	ENSP00000356590:p.Ala403Gly	Somatic	0	142	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	134	17.28	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP							pfam_Axonemal_dynein_light_chain	p.A403G	ENST00000367618.3	37	c.1208	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229450	0.79688	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.55234	1.81;0.53;1.85	5.18	5.18	0.71444	.	0.197958	0.41712	D	0.000827	T	0.66877	0.2834	M	0.69823	2.125	0.35625	D	0.809731	D;D;P	0.61697	0.99;0.978;0.944	P;P;P	0.57720	0.826;0.714;0.572	T	0.77083	-0.2719	10	0.72032	D	0.01	-6.1134	14.5509	0.68065	0.0:1.0:0.0:0.0	.	361;403;403	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	G	403;361;403;337	ENSP00000356590:A403G;ENSP00000416712:A403G;ENSP00000391716:A337G	ENSP00000353471:A361G	A	+	2	0	AXDND1	177647002	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.749000	0.55150	2.552000	0.86080	0.585000	0.79938	GCC	-	NULL		0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	protein_coding	OTTHUMT00000085312.1	C	NM_144696	-		179380379	1	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	SNP	1.000	G	G	179380379	C	G	179380379	3	3	98	1	0	0	0	0	1	0	0	0	1995	739	26	4	1250	4	C1orf125	1	179380379	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	22317814	179380379	69870242	7	5594											
HMCN1	83872	genome.wustl.edu	37	chr1	186086748	186086748	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagatggctatagaattctGtcctcaggtaagaccaagct	11	8	2	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:186086748G>C	ENST00000271588.4	+	77	12070	c.11841G>C	c.(11839-11841)ctG>ctC	p.L3947L	HMCN1_ENST00000367492.2_Silent_p.L3947L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3947	Ig-like C2-type 38.				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)			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						ATAGAATTCTGTCCTCAGGTA	0.403																																																	0								ENSG00000143341						92	91	91					1																	186086748		2203	4299	6502	HMCN1	SO:0001819	synonymous_variant	0			-	HGNC	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.11841G>C	1.37:g.186086748G>C		Somatic	0	37	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L3947	ENST00000271588.4	37	c.11841	CCDS30956.1	1																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	G	NM_031935	-		186086748	1	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	SNP	0.983	C	C	186086748	G	C	186086748	2	2	98	1	0	0	0	0	0	0	0	1	7222	1364	48	4		4	HMCN1	1	186086748	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	6706369	186086748	63163873	8	5595											
C4BPA	722	genome.wustl.edu	37	chr1	207304944	207304944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgggaaacatatcctAggccgacaaaagaggatgtg	11	9	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:207304944A>T	ENST00000367070.3	+	8	1137	c.943A>T	c.(943-945)Agg>Tgg	p.R315W		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	315	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AACATATCCTAGGCCGACAAA	0.423																																																	0								ENSG00000123838						166	119	135					1																	207304944		2203	4300	6503	C4BPA	SO:0001583	missense	0			-	HGNC	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.943A>T	1.37:g.207304944A>T	ENSP00000356037:p.Arg315Trp	Somatic	0	66	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	53	32.05	Q5VVQ8	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R315W	ENST00000367070.3	37	c.943	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	A	9.068	0.996137	0.19043	.	.	ENSG00000123838	ENST00000367070	T	0.50277	0.75	3.96	-3.31	0.04988	Complement control module (2);Sushi/SCR/CCP (3);	2.237040	0.01762	N	0.030615	T	0.33323	0.0859	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.07558	-1.0766	10	0.37606	T	0.19	.	1.0025	0.01480	0.2821:0.2939:0.0961:0.3279	.	315	P04003	C4BPA_HUMAN	W	315	ENSP00000356037:R315W	ENSP00000356037:R315W	R	+	1	2	C4BPA	205371567	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.041000	0.01415	-0.648000	0.05437	-0.316000	0.08728	AGG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	protein_coding	OTTHUMT00000088089.3	A		-		207304944	1	no_errors	ENST00000367070	ensembl	human	known	74_37	missense	SNP	0.000	T	T	207304944	A	T	207304944	3	4	98	1	0	0	0	0	1	0	0	0	2251	411	15	5	969	5	C4BPA	1	207304944	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	21218196	207304944	41945677	9	5596											
PROX1	5629	genome.wustl.edu	37	chr1	214170638	214170638	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacagctgcgccagctgCaggaaaagttctaccaaatc	9	11	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:214170638C>T	ENST00000366958.4	+	2	1368	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	PROX1_ENST00000435016.1_Nonsense_Mutation_p.Q254*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.Q254*|PROX1_ENST00000498508.2_Nonsense_Mutation_p.Q254*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	254					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|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)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCGCCAGCTGCAGGAAAAGTT	0.517																																																	0								ENSG00000117707						46	47	47					1																	214170638		2203	4300	6503	PROX1	SO:0001587	stop_gained	0			-	HGNC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.760C>T	1.37:g.214170638C>T	ENSP00000355925:p.Gln254*	Somatic	0	30	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP							pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.Q254*	ENST00000366958.4	37	c.760	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.533942	0.99423	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	5.93	5.93	0.95920	.	0.050443	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.393	19.9472	0.97186	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000261454:Q254X	Q	+	1	0	PROX1	212237261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CAG	-	pfam_Homeo_prospero_dom		0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	protein_coding	OTTHUMT00000089727.6	C	NM_002763	-		214170638	1	no_errors	ENST00000261454	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	214170638	C	T	214170638	4	4	98	1	0	0	0	0	0	1	0	0	12565	711	25	2	762	2	PROX1	1	214170638	Nonsense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	6865694	214170638	35079983	10	5597											
USH2A	7399	genome.wustl.edu	37	chr1	215848049	215848049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccagcaggcacaggccctGgccagcaagggactctttat	11	13	1	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:215848049G>T	ENST00000307340.3	-	63	13590	c.13204C>A	c.(13204-13206)Cag>Aag	p.Q4402K	USH2A_ENST00000366943.2_Missense_Mutation_p.Q4402K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4402	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACAGGCCCTGGCCAGCAAGG	0.458										HNSCC(13;0.011)																																							0								ENSG00000042781						66	69	68					1																	215848049		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13204C>A	1.37:g.215848049G>T	ENSP00000305941:p.Gln4402Lys	Somatic	0	16	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q4402K	ENST00000307340.3	37	c.13204	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.489686	0.01018	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	4.82	3.76	0.43208	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.394512	0.17754	U	0.163126	T	0.26991	0.0661	N	0.11064	0.09	0.20764	N	0.999852	B	0.06786	0.001	B	0.08055	0.003	T	0.14671	-1.0464	10	0.02654	T	1	.	10.3465	0.43909	0.0:0.0:0.5605:0.4395	.	4402	O75445	USH2A_HUMAN	K	4402	ENSP00000305941:Q4402K;ENSP00000355910:Q4402K	ENSP00000305941:Q4402K	Q	-	1	0	USH2A	213914672	0.919000	0.31177	0.370000	0.25965	0.234000	0.25298	4.413000	0.59795	2.384000	0.81235	0.467000	0.42956	CAG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		215848049	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.516	T	T	215848049	G	T	215848049	3	4	98	1	0	0	0	0	1	0	0	0	17043	1357	47	3	2444	3	USH2A	1	215848049	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	1677411	215848049	33402572	11	5598											
MARK1	4139	genome.wustl.edu	37	chr1	220804450	220804450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatatactgagcctgatcCggatttcaatgacacaaaaa	7	10	1	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:220804450C>T	ENST00000366917.4	+	10	1249	c.983C>T	c.(982-984)cCg>cTg	p.P328L	MARK1_ENST00000366918.4_Missense_Mutation_p.P306L|MARK1_ENST00000402574.1_Missense_Mutation_p.P193L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAGCCTGATCCGGATTTCAAT	0.368																																																	0								ENSG00000116141						107	103	104					1																	220804450		2203	4300	6503	MARK1	SO:0001583	missense	0			-	HGNC	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.983C>T	1.37:g.220804450C>T	ENSP00000355884:p.Pro328Leu	Somatic	0	66	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	73	25.51		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.P328L	ENST00000366917.4	37	c.983	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929777	0.34096	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.73681	-0.64;-0.45;-0.77	5.78	4.86	0.63082	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.121779	0.56097	N	0.000022	T	0.65396	0.2687	L	0.42487	1.325	0.53005	D	0.999961	B;B;B;B	0.20368	0.007;0.004;0.033;0.044	B;B;B;B	0.23018	0.001;0.002;0.002;0.043	T	0.59611	-0.7422	10	0.10636	T	0.68	.	14.2536	0.66035	0.0:0.9275:0.0:0.0725	.	328;193;328;306	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	193;306;328	ENSP00000386017:P193L;ENSP00000355885:P306L;ENSP00000355884:P328L	ENSP00000355884:P328L	P	+	2	0	MARK1	218871073	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.501000	0.45389	1.557000	0.49525	0.655000	0.94253	CCG	-	pfscan_UBA/transl_elong_EF1B_N_euk		0.368	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	protein_coding	OTTHUMT00000090899.1	C		-		220804450	1	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	SNP	1.000	T	T	220804450	C	T	220804450	3	4	98	1	0	0	0	0	1	0	0	0	9314	652	23	1	1021	1	MARK1	1	220804450	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	4956401	220804450	28446171	12	5599											
GREM2	64388	genome.wustl.edu	37	chr1	240656641	240656641	+	Missense_Mutation	SNP	C	C	A													acctccttgatctggtgctgCcatctctccgagttgttgct							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:240656641C>A	ENST00000318160.4	-	2	401	c.135G>T	c.(133-135)tgG>tgT	p.W45C		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	45					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)			TCTGGTGCTGCCATCTCTCCG	0.657																																																	0								ENSG00000180875						31	33	32					1																	240656641		2203	4299	6502	GREM2	SO:0001583	missense	0			-	HGNC	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.135G>T	1.37:g.240656641C>A	ENSP00000318650:p.Trp45Cys	Somatic	0	86	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	60	36.84	Q86UD9	Missense_Mutation	SNP							pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.W45C	ENST00000318160.4	37	c.135	CCDS31070.1	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952685	0.53293	.	.	ENSG00000180875	ENST00000318160	T	0.02579	4.24	5.03	5.03	0.67393	.	0.610114	0.16715	U	0.202499	T	0.03434	0.0099	N	0.08118	0	0.53688	D	0.999979	P	0.47677	0.899	P	0.50537	0.643	T	0.65092	-0.6252	10	0.42905	T	0.14	-20.1738	12.7816	0.57480	0.0:0.9203:0.0:0.0797	.	45	Q9H772	GREM2_HUMAN	C	45	ENSP00000318650:W45C	ENSP00000318650:W45C	W	-	3	0	GREM2	238723264	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.874000	0.39568	2.327000	0.79052	0.557000	0.71058	TGG	-	pirsf_Gremlin_precursor		0.657	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	protein_coding	OTTHUMT00000096286.1	C	NM_022469	-		240656641	-1	no_errors	ENST00000318160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	240656641	C	A	240656641	3	1	98	1	0	0	0	0	1	0	0	0	6764	740	26	3	375	3	GREM2	1	240656641	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	19852191	240656641	8593980	13	5600	63	2									
GREM2	64388	genome.wustl.edu	37	chr1	240656642	240656642	+	Missense_Mutation	SNP	C	C	A													cctccttgatctggtgctgcCatctctccgagttgttgctg							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:240656642C>A	ENST00000318160.4	-	2	400	c.134G>T	c.(133-135)tGg>tTg	p.W45L		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	45					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)			CTGGTGCTGCCATCTCTCCGA	0.657																																																	0								ENSG00000180875						31	33	32					1																	240656642		2203	4299	6502	GREM2	SO:0001583	missense	0			-	HGNC	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.134G>T	1.37:g.240656642C>A	ENSP00000318650:p.Trp45Leu	Somatic	0	89	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	61	36.46	Q86UD9	Missense_Mutation	SNP							pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.W45L	ENST00000318160.4	37	c.134	CCDS31070.1	1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009980	0.35415	.	.	ENSG00000180875	ENST00000318160	T	0.02158	4.42	5.03	5.03	0.67393	.	0.610114	0.16715	U	0.202499	T	0.01905	0.0060	N	0.08118	0	0.36575	D	0.873238	B	0.22414	0.069	B	0.24006	0.05	T	0.58148	-0.7687	10	0.13470	T	0.59	-20.1738	18.3609	0.90374	0.0:1.0:0.0:0.0	.	45	Q9H772	GREM2_HUMAN	L	45	ENSP00000318650:W45L	ENSP00000318650:W45L	W	-	2	0	GREM2	238723265	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.518000	0.53451	2.327000	0.79052	0.557000	0.71058	TGG	-	pirsf_Gremlin_precursor		0.657	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	protein_coding	OTTHUMT00000096286.1	C	NM_022469	-		240656642	-1	no_errors	ENST00000318160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	240656642	C	A	240656642	3	1	98	1	0	0	0	0	1	0	0	0	6764	595	21	3	376	3	GREM2	1	240656642	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	1	240656642	8593979	14	5601	63	2									
OR2T12	127064	genome.wustl.edu	37	chr1	248458375	248458375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgatcgatctcgtgtGcaccgcaatatgggaagctc	12	9	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr1:248458375G>A	ENST00000317996.1	-	1	505	c.506C>T	c.(505-507)gCa>gTa	p.A169V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GATCTCGTGTGCACCGCAATA	0.577																																																	0								ENSG00000177201						108	96	100					1																	248458375		2201	4298	6499	OR2T12	SO:0001583	missense	0			-	HGNC	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.506C>T	1.37:g.248458375G>A	ENSP00000324583:p.Ala169Val	Somatic	0	76	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A169V	ENST00000317996.1	37	c.506	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186082	0.38609	.	.	ENSG00000177201	ENST00000317996	T	0.36340	1.26	1.55	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.796012	0.10231	U	0.699582	T	0.35038	0.0918	L	0.46947	1.48	0.09310	N	1	P	0.41848	0.763	P	0.46208	0.507	T	0.29941	-0.9995	10	0.87932	D	0	.	5.5848	0.17269	0.0:0.2836:0.536:0.1805	.	169	Q8NG77	O2T12_HUMAN	V	169	ENSP00000324583:A169V	ENSP00000324583:A169V	A	-	2	0	OR2T12	246524998	0.012000	0.17670	0.001000	0.08648	0.027000	0.11550	1.338000	0.33873	0.645000	0.30675	0.175000	0.17021	GCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.577	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	protein_coding	OTTHUMT00000097353.1	G	NM_001004692	-		248458375	-1	no_errors	ENST00000317996	ensembl	human	known	74_37	missense	SNP	0.000	A	A	248458375	G	A	248458375	3	1	98	1	0	0	0	0	1	0	0	0	11021	1319	46	2	459	2	OR2T12	1	248458375	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	7801733	248458375	792246	15	5602											
STRN	6801	genome.wustl.edu	37	chr2	37126759	37126759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcactttcaaggaatttGaaattatccagcacggaggc	10	9	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr2:37126759G>A	ENST00000263918.4	-	6	710	c.702C>T	c.(700-702)ttC>ttT	p.F234F	STRN_ENST00000379213.2_Silent_p.F222F	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	234					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)			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)				CAAGGAATTTGAAATTATCCA	0.363																																																	0								ENSG00000115808						69	67	68					2																	37126759		2203	4299	6502	STRN	SO:0001819	synonymous_variant	0			-	HGNC	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.702C>T	2.37:g.37126759G>A		Somatic	0	48	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	60	14.29	Q3KP65|Q53TQ8|Q9NP38	Silent	SNP							pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F234	ENST00000263918.4	37	c.702	CCDS1784.1	2																																																																																			-	NULL		0.363	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	protein_coding	OTTHUMT00000218568.1	G		-		37126759	-1	no_errors	ENST00000263918	ensembl	human	known	74_37	silent	SNP	1.000	A	A	37126759	G	A	37126759	2	1	98	1	0	0	0	0	0	0	0	1	15336	1281	45	2		2	STRN	2	37126759	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		37126759	206072614	16	5603											
SLC4A5	57835	genome.wustl.edu	37	chr2	74479414	74479416	+	In_Frame_Del	DEL	CCA	CCA	-													tgccagccccgccgccactgCcaccaccaccaccacctcca							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	CCA	CCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr2:74479414_74479416delCCA	ENST00000377634.4	-	16	1767_1769	c.1368_1370delTGG	c.(1366-1371)ggtggc>ggc	p.456_457GG>G	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_In_Frame_Del_p.456_457GG>G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000358683.4_In_Frame_Del_p.392_393GG>G|SLC4A5_ENST00000346834.4_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000423644.1_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000357822.5_In_Frame_Del_p.456_457GG>G|SLC4A5_ENST00000359484.4_In_Frame_Del_p.392_393GG>G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						gccgccactgccaccaccaccac	0.635																																																	0								ENSG00000188687																																			SLC4A5	SO:0001651	inframe_deletion	0				HGNC	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1368_1370delTGG	2.37:g.74479423_74479425delCCA	ENSP00000366861:p.Gly457del	Somatic	0	29	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76		In_Frame_Del	DEL							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.G457in_frame_del	ENST00000377634.4	37	c.1370_1368	CCDS1936.1	2																																																																																			-	tigrfam_HCO3_transpt_euk		0.635	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	CCA				74479416	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	in_frame_del	DEL	0.160:0.293:0.421	-	-	74479416	CCA	-	74479414	7	5	98	1	0	1	0	1	0	0	0	0	14665	739	26	0	2107	0	SLC4A5	2	74479414	In_Frame_Del	DEL	CCA	TCGA-DX-A8BL-01A-11D-A417-09	37352655	74479414	168719959	17	5604											
MYO7B	4648	genome.wustl.edu	37	chr2	128394947	128394947	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagctcctgagtgccatGaacaagcagcggggctccaa	12	13	0	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr2:128394947G>T	ENST00000409816.2	+	46	6338	c.6306G>T	c.(6304-6306)atG>atT	p.M2102I	MYO7B_ENST00000409090.1_Missense_Mutation_p.M955I|MYO7B_ENST00000428314.1_Missense_Mutation_p.M2102I|MYO7B_ENST00000389524.4_Missense_Mutation_p.M2103I|LIMS2_ENST00000494613.1_5'Flank			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2102	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGAGTGCCATGAACAAGCAGC	0.657																																																	0								ENSG00000169994						27	31	30					2																	128394947		1993	4171	6164	MYO7B	SO:0001583	missense	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6306G>T	2.37:g.128394947G>T	ENSP00000386461:p.Met2102Ile	Somatic	0	39	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q14786|Q8TEE1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.M2103I	ENST00000409816.2	37	c.6309	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	N	13.32	2.200928	0.38905	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.03	4.23	1.37	0.22104	FERM domain (1);	0.918631	0.09236	N	0.829853	T	0.80352	0.4607	L	0.49350	1.555	0.26468	N	0.97533	B	0.12013	0.005	B	0.06405	0.002	T	0.65364	-0.6186	10	0.35671	T	0.21	.	2.9334	0.05807	0.4186:0.0:0.3865:0.1949	.	2102	Q6PIF6	MYO7B_HUMAN	I	2103;2102;2102;955	ENSP00000374175:M2103I;ENSP00000415090:M2102I;ENSP00000386461:M2102I;ENSP00000386850:M955I	ENSP00000374175:M2103I	M	+	3	0	MYO7B	128111417	1.000000	0.71417	0.039000	0.18376	0.266000	0.26442	0.873000	0.28052	0.512000	0.28257	0.555000	0.69702	ATG	-	pfscan_FERM_domain		0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	G	XM_291001	-		128394947	1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	SNP	0.755	T	T	128394947	G	T	128394947	3	4	98	1	0	0	0	0	1	0	0	0	10085	1290	45	3	6488	3	MYO7B	2	128394947	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	53915533	128394947	114804426	18	5605											
RPE	6120	genome.wustl.edu	37	chr2	210867409	210867409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgggctgcaagattggCccgtccatcctcaacagcga	12	14	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr2:210867409C>T	ENST00000359429.6	+	1	121	c.24C>T	c.(22-24)ggC>ggT	p.G8G	RPE_ENST00000429907.1_5'UTR|RPE_ENST00000454822.1_5'UTR|RPE_ENST00000435437.2_Silent_p.G8G|RPE_ENST00000411934.2_5'UTR|RPE_ENST00000438204.2_5'UTR|RPE_ENST00000540255.1_Silent_p.G8G|RPE_ENST00000452025.1_Silent_p.G8G|RPE_ENST00000445268.1_5'UTR|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000429921.1_5'UTR|RPE_ENST00000354506.6_Silent_p.G8G	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	8					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		GCAAGATTGGCCCGTCCATCC	0.612																																																	0								ENSG00000197713						59	57	58					2																	210867409		2203	4299	6502	RPE	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.24C>T	2.37:g.210867409C>T		Somatic	0	60	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Silent	SNP							pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like	p.G8	ENST00000359429.6	37	c.24	CCDS2388.1	2																																																																																			-	pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like		0.612	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE	protein_coding	OTTHUMT00000336574.2	C	NM_006916	-		210867409	1	no_errors	ENST00000359429	ensembl	human	known	74_37	silent	SNP	0.995	T	T	210867409	C	T	210867409	2	4	98	1	0	0	0	0	0	0	0	1	13552	726	26	2		2	RPE	2	210867409	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	82472462	210867409	32331964	19	5606											
CCDC54	84692	genome.wustl.edu	37	chr3	107096946	107096946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcacagaactgctttAcaaactcatacaaccagcaa	4	11	2	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr3:107096946A>G	ENST00000261058.1	+	1	759	c.512A>G	c.(511-513)tAc>tGc	p.Y171C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	171										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAACTGCTTTACAAACTCATA	0.433																																																	0								ENSG00000138483						83	74	77					3																	107096946		2203	4300	6503	CCDC54	SO:0001583	missense	0			-	HGNC	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.512A>G	3.37:g.107096946A>G	ENSP00000261058:p.Tyr171Cys	Somatic	0	38	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	Q96A43	Missense_Mutation	SNP							NULL	p.Y171C	ENST00000261058.1	37	c.512	CCDS2949.1	3	.	.	.	.	.	.	.	.	.	.	a	7.866	0.727057	0.15439	.	.	ENSG00000138483	ENST00000261058	T	0.43294	0.95	5.21	2.76	0.32466	.	0.561545	0.16138	N	0.227850	T	0.36936	0.0985	L	0.36672	1.1	0.09310	N	1	D	0.57257	0.979	P	0.50192	0.634	T	0.19910	-1.0291	10	0.66056	D	0.02	0.0766	4.3449	0.11127	0.7306:0.0:0.095:0.1744	.	171	Q8NEL0	CCD54_HUMAN	C	171	ENSP00000261058:Y171C	ENSP00000261058:Y171C	Y	+	2	0	CCDC54	108579636	0.031000	0.19500	0.002000	0.10522	0.014000	0.08584	2.722000	0.47269	0.292000	0.22492	0.373000	0.22412	TAC	-	NULL		0.433	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC54	protein_coding	OTTHUMT00000353651.1	A	NM_032600	-		107096946	1	no_errors	ENST00000261058	ensembl	human	known	74_37	missense	SNP	0.004	G	G	107096946	A	G	107096946	3	3	98	1	0	0	0	0	1	0	0	0	2826	391	14	5	514	5	CCDC54	3	107096946	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09		107096946	90925484	20	5607											
SIDT1	54847	genome.wustl.edu	37	chr3	113325907	113325907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaaatgtcactggcaAccaggacatctgttactaca	10	9	2	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr3:113325907A>G	ENST00000264852.4	+	15	2150	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S	SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.N475S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	475					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTCACTGGCAACCAGGACATC	0.507																																																	0								ENSG00000072858						158	125	136					3																	113325907		2203	4300	6503	SIDT1	SO:0001583	missense	0			-	HGNC	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1424A>G	3.37:g.113325907A>G	ENSP00000264852:p.Asn475Ser	Somatic	0	42	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	61	17.57	Q17RR4	Missense_Mutation	SNP							NULL	p.N475S	ENST00000264852.4	37	c.1424	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	A	32	5.126462	0.94429	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23147	1.92;1.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.58428	1.81	0.58432	D	0.99999	P;P	0.51240	0.929;0.943	P;P	0.61940	0.834;0.896	T	0.39396	-0.9616	10	0.62326	D	0.03	-25.973	15.9745	0.80049	1.0:0.0:0.0:0.0	.	475;475	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	S	475	ENSP00000264852:N475S;ENSP00000377416:N475S	ENSP00000264852:N475S	N	+	2	0	SIDT1	114808597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.265000	0.95647	2.168000	0.68352	0.533000	0.62120	AAC	-	NULL		0.507	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	protein_coding	OTTHUMT00000317564.1	A	NM_017699	-		113325907	1	no_errors	ENST00000393830	ensembl	human	known	74_37	missense	SNP	1.000	G	G	113325907	A	G	113325907	3	3	98	1	0	0	0	0	1	0	0	0	14310	43	2	5	1482	5	SIDT1	3	113325907	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	6228961	113325907	84696523	21	5608											
MED12L	116931	genome.wustl.edu	37	chr3	151083705	151083705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcttagttcagaatggCtgggggttctgaaggctctt	13	7	4	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr3:151083705C>T	ENST00000474524.1	+	21	3186	c.3148C>T	c.(3148-3150)Ctg>Ttg	p.L1050L	MED12L_ENST00000273432.4_Silent_p.L910L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1050						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCAGAATGGCTGGGGGTTCT	0.388																																																	0								ENSG00000144893						127	132	130					3																	151083705		2203	4300	6503	MED12L	SO:0001819	synonymous_variant	0			-	HGNC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3148C>T	3.37:g.151083705C>T		Somatic	0	96	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	89	23.28	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L1050	ENST00000474524.1	37	c.3148	CCDS33876.1	3																																																																																			-	NULL		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	protein_coding	OTTHUMT00000357707.2	C	NM_053002	-		151083705	1	no_errors	ENST00000474524	ensembl	human	known	74_37	silent	SNP	1.000	T	T	151083705	C	T	151083705	2	4	98	1	0	0	0	0	0	0	0	1	9431	796	28	2		2	MED12L	3	151083705	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	37757798	151083705	46938725	22	5609											
SGEF	26084	genome.wustl.edu	37	chr3	153909093	153909093	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagctaccaatccatcCtttaaggaagtattgtcaag	7	10	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr3:153909093C>A	ENST00000356448.4	+	8	1940	c.1656C>A	c.(1654-1656)tcC>tcA	p.S552S	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.S552S	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	552	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCAATCCATCCTTTAAGGAAG	0.393																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0								ENSG00000114790						102	90	94					3																	153909093		1853	4097	5950	ARHGEF26	SO:0001819	synonymous_variant	0			-	HGNC	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1656C>A	3.37:g.153909093C>A		Somatic	0	82	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	68	19.05	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S552	ENST00000356448.4	37	c.1656	CCDS46938.1	3																																																																																			-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.393	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	protein_coding	OTTHUMT00000353287.3	C	NM_015595	-		153909093	1	no_errors	ENST00000356448	ensembl	human	known	74_37	silent	SNP	0.138	A	A	153909093	C	A	153909093	2	1	98	1	0	0	0	0	0	0	0	1	14213	668	24	3		3	SGEF	3	153909093	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	2825388	153909093	44113337	23	5610											
OSTN	344901	genome.wustl.edu	37	chr3	190967857	190967857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatccaaaaaggcgatttGgtatccccatggatcggatt	9	9	1	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr3:190967857G>T	ENST00000339051.1	+	3	349	c.349G>T	c.(349-351)Ggt>Tgt	p.G117C	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	117					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AAGGCGATTTGGTATCCCCAT	0.353																																																	0								ENSG00000188729						124	128	127					3																	190967857		2203	4300	6503	OSTN	SO:0001583	missense	0			-	HGNC	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.349G>T	3.37:g.190967857G>T	ENSP00000342356:p.Gly117Cys	Somatic	0	133	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	74	46.38	A1A4U3	Missense_Mutation	SNP							pfam_Osteocrin	p.G117C	ENST00000339051.1	37	c.349	CCDS3299.1	3	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582426	0.65992	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.52	4.62	0.57501	.	0.186977	0.47093	D	0.000256	T	0.70806	0.3266	L	0.59436	1.845	0.39537	D	0.968767	D	0.89917	1.0	D	0.80764	0.994	T	0.74802	-0.3541	9	0.87932	D	0	-22.206	12.1496	0.54042	0.0:0.1724:0.8276:0.0	.	117	P61366	OSTN_HUMAN	C	117	.	ENSP00000342356:G117C	G	+	1	0	OSTN	192450551	1.000000	0.71417	0.945000	0.38365	0.949000	0.60115	3.170000	0.50816	1.295000	0.44724	0.655000	0.94253	GGT	-	pfam_Osteocrin		0.353	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTN	protein_coding	OTTHUMT00000343350.1	G	NM_198184	-		190967857	1	no_errors	ENST00000339051	ensembl	human	known	74_37	missense	SNP	0.993	T	T	190967857	G	T	190967857	3	4	98	1	0	0	0	0	1	0	0	0	11301	1348	47	3	359	3	OSTN	3	190967857	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	37058764	190967857	7054573	24	5611											
KIAA1530	57654	genome.wustl.edu	37	chr4	1360147	1360147	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggaggaagatgaggacgatGaggactttgtggaggtccct	17	6	0	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr4:1360147G>T	ENST00000389851.4	+	8	1663	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	UVSSA_ENST00000507531.1_Nonsense_Mutation_p.E406*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.E406*|UVSSA_ENST00000511563.1_5'UTR	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	406					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TGAGGACGATGAGGACTTTGT	0.587																																																	0								ENSG00000163945						181	179	179					4																	1360147		2203	4300	6503	UVSSA	SO:0001587	stop_gained	0			-	HGNC	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1216G>T	4.37:g.1360147G>T	ENSP00000374501:p.Glu406*	Somatic	0	42	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP							pfam_DUF2043,superfamily_ENTH_VHS	p.E406*	ENST00000389851.4	37	c.1216	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.511530	0.96402	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	.	.	.	4.96	2.17	0.27698	.	0.549135	0.17227	U	0.182105	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	9.4168	0.38525	0.0773:0.2825:0.6401:0.0	.	.	.	.	X	406	.	ENSP00000374501:E406X	E	+	1	0	KIAA1530	1350147	1.000000	0.71417	0.018000	0.16275	0.024000	0.10985	4.539000	0.60657	0.110000	0.17919	-0.499000	0.04595	GAG	-	NULL		0.587	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	protein_coding	OTTHUMT00000359480.1	G	NM_020894	-		1360147	1	no_errors	ENST00000389851	ensembl	human	known	74_37	nonsense	SNP	0.674	T	T	1360147	G	T	1360147	4	4	98	1	0	0	0	0	0	1	0	0	8243	1291	45	3	1242	3	KIAA1530	4	1360147	Nonsense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		1360147	189794129	25	5612											
EVC2	132884	genome.wustl.edu	37	chr4	5664843	5664843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattcttactcttctaagGcttgaagcatgctcccaggg	9	10	3	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr4:5664843G>A	ENST00000344408.5	-	9	1189	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	EVC2_ENST00000344938.1_Missense_Mutation_p.A379V|EVC2_ENST00000310917.2_Missense_Mutation_p.A299V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	379					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCTTCTAAGGCTTGAAGCAT	0.423																																																	0								ENSG00000173040						109	103	105					4																	5664843		2203	4300	6503	EVC2	SO:0001583	missense	0			-	HGNC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1136C>T	4.37:g.5664843G>A	ENSP00000342144:p.Ala379Val	Somatic	0	22	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP							pfam_Limbin	p.A379V	ENST00000344408.5	37	c.1136	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360345	0.61403	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79033	-1.23;-1.23;-1.23	5.07	5.07	0.68467	.	0.064498	0.64402	D	0.000012	D	0.86293	0.5898	M	0.66939	2.045	0.42567	D	0.993166	D	0.89917	1.0	D	0.87578	0.998	D	0.87620	0.2509	10	0.72032	D	0.01	-10.7069	14.2942	0.66300	0.0:0.0:1.0:0.0	.	379	Q86UK5	LBN_HUMAN	V	379;299;379	ENSP00000339954:A379V;ENSP00000311683:A299V;ENSP00000342144:A379V	ENSP00000311683:A299V	A	-	2	0	EVC2	5715744	1.000000	0.71417	0.897000	0.35233	0.263000	0.26337	3.155000	0.50700	2.496000	0.84212	0.655000	0.94253	GCC	-	pfam_Limbin		0.423	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	protein_coding	OTTHUMT00000289822.2	G	NM_147127	-		5664843	-1	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5664843	G	A	5664843	3	1	98	1	0	0	0	0	1	0	0	0	5288	1203	42	2	2846	2	EVC2	4	5664843	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	4304696	5664843	185489433	26	5613											
TBC1D1	23216	genome.wustl.edu	37	chr4	38016303	38016303	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctgatcgacgagtgcatCgagaagttcaatcacgtcag	11	11	3	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr4:38016303C>T	ENST00000261439.4	+	3	946	c.591C>T	c.(589-591)atC>atT	p.I197I	TBC1D1_ENST00000508802.1_Silent_p.I197I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	197					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACGAGTGCATCGAGAAGTTCA	0.672																																																	0								ENSG00000065882						58	65	63					4																	38016303		2203	4300	6503	TBC1D1	SO:0001819	synonymous_variant	0			-	HGNC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.591C>T	4.37:g.38016303C>T		Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	19.51	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.I197	ENST00000261439.4	37	c.591	CCDS33972.1	4																																																																																			-	smart_PTB/PI_dom		0.672	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	C	NM_015173	-		38016303	1	no_errors	ENST00000261439	ensembl	human	known	74_37	silent	SNP	0.996	T	T	38016303	C	T	38016303	2	4	98	1	0	0	0	0	0	0	0	1	15604	874	31	1		1	TBC1D1	4	38016303	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	32351460	38016303	153137973	27	5614											
KIAA1109	84162	genome.wustl.edu	37	chr4	123128768	123128768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggactttgttccagctaCatgtaataccaagttctctt	6	10	1	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr4:123128768C>T	ENST00000264501.4	+	17	2100	c.1727C>T	c.(1726-1728)aCa>aTa	p.T576I	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.T576I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T576I			Q2LD37	K1109_HUMAN	KIAA1109	576					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						GTTCCAGCTACATGTAATACC	0.318																																																	0								ENSG00000138688						131	121	124					4																	123128768		1832	4082	5914	KIAA1109	SO:0001583	missense	0			-	HGNC	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.1727C>T	4.37:g.123128768C>T	ENSP00000264501:p.Thr576Ile	Somatic	0	78	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	87	32.82	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP							pfam_Fragile_site-assoc_C	p.T576I	ENST00000264501.4	37	c.1727	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316264	0.60524	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.25250	2.39;2.39;1.81	5.66	5.66	0.87406	.	0.406531	0.20751	U	0.086341	T	0.52613	0.1745	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.49872	-0.8893	10	0.59425	D	0.04	.	19.7461	0.96252	0.0:1.0:0.0:0.0	.	576	Q2LD37	K1109_HUMAN	I	576	ENSP00000264501:T576I;ENSP00000373390:T576I;ENSP00000389925:T576I	ENSP00000264501:T576I	T	+	2	0	KIAA1109	123348218	0.999000	0.42202	0.934000	0.37439	0.133000	0.20885	4.015000	0.57152	2.645000	0.89757	0.650000	0.86243	ACA	-	NULL		0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	C	NM_020797	-		123128768	1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123128768	C	T	123128768	3	4	98	1	0	0	0	0	1	0	0	0	8210	478	17	2	1785	2	KIAA1109	4	123128768	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	85112465	123128768	68025508	28	5615											
DCLK2	166614	genome.wustl.edu	37	chr4	151141922	151141922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcttgaccgttgcataaGtcctgaaggtagttctcagt	11	8	1	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr4:151141922G>A	ENST00000296550.7	+	6	1878	c.1124G>A	c.(1123-1125)aGt>aAt	p.S375N	DCLK2_ENST00000302176.8_Missense_Mutation_p.S392N|DCLK2_ENST00000506325.1_Missense_Mutation_p.S374N	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	375					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CGTTGCATAAGTCCTGAAGGT	0.418																																					GBM(195;186 2215 13375 16801 37459)												0								ENSG00000170390						129	103	112					4																	151141922		2203	4300	6503	DCLK2	SO:0001583	missense	0			-	HGNC	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1124G>A	4.37:g.151141922G>A	ENSP00000296550:p.Ser375Asn	Somatic	0	45	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S392N	ENST00000296550.7	37	c.1175	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121680	0.37436	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.68331	0.79;0.79;-0.32	5.49	5.49	0.81192	.	0.160337	0.64402	D	0.000010	T	0.62245	0.2412	L	0.45051	1.395	0.45183	D	0.998198	B;B;B	0.28584	0.216;0.006;0.002	B;B;B	0.34242	0.178;0.005;0.002	T	0.56245	-0.8011	10	0.18710	T	0.47	.	17.5037	0.87739	0.0:0.0:1.0:0.0	.	392;374;375	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	N	375;374;392	ENSP00000296550:S375N;ENSP00000427235:S374N;ENSP00000303887:S392N	ENSP00000296550:S375N	S	+	2	0	DCLK2	151361372	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.152000	0.71812	2.733000	0.93635	0.655000	0.94253	AGT	-	NULL		0.418	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	protein_coding	OTTHUMT00000364952.1	G	NM_001040260	-		151141922	1	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151141922	G	A	151141922	3	1	98	1	0	0	0	0	1	0	0	0	4294	1029	36	2	1146	2	DCLK2	4	151141922	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	28013154	151141922	40012354	29	5616											
PLK2	10769	genome.wustl.edu	37	chr5	57750745	57750745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagttcatttacctgaaagGtgccatcattaaagagcatc	8	8	2	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr5:57750745G>T	ENST00000274289.3	-	13	2159	c.1859C>A	c.(1858-1860)aCc>aAc	p.T620N	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	620	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TACCTGAAAGGTGCCATCATT	0.408																																																	0								ENSG00000145632						187	193	191					5																	57750745		2203	4300	6503	PLK2	SO:0001583	missense	0			-	HGNC		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1859C>A	5.37:g.57750745G>T	ENSP00000274289:p.Thr620Asn	Somatic	0	33	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.T620N	ENST00000274289.3	37	c.1859	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300720	0.81136	.	.	ENSG00000145632	ENST00000274289	T	0.13778	2.56	6.01	6.01	0.97437	POLO box duplicated domain (2);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55140	-0.8187	10	0.87932	D	0	-17.8541	20.5182	0.99214	0.0:0.0:1.0:0.0	.	620	Q9NYY3	PLK2_HUMAN	N	620	ENSP00000274289:T620N	ENSP00000274289:T620N	T	-	2	0	PLK2	57786502	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.860000	0.98153	0.655000	0.94253	ACC	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	protein_coding	OTTHUMT00000214150.1	G	NM_006622	-		57750745	-1	no_errors	ENST00000274289	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57750745	G	T	57750745	3	4	98	1	0	0	0	0	1	0	0	0	12098	1261	44	3	206	3	PLK2	5	57750745	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		57750745	123164515	30	5617											
PCDHA6	56142	genome.wustl.edu	37	chr5	140208144	140208144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtttccactggagggCgcgtccgatgcagatgttgg	15	9	1	1	rs373076921		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr5:140208144C>T	ENST00000529310.1	+	1	582	c.468C>T	c.(466-468)ggC>ggT	p.G156G	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.G156G|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_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	156					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)			CACTGGAGGGCGCGTCCGATG	0.458																																																	0								ENSG00000081842						86	91	89					5																	140208144		2203	4300	6503	PCDHA6	SO:0001819	synonymous_variant	0			-	HGNC	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.468C>T	5.37:g.140208144C>T		Somatic	0	51	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	O75283|Q9NRT8	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G156	ENST00000529310.1	37	c.468	CCDS47281.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin		0.458	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	C	NM_018909	-		140208144	1	no_errors	ENST00000529310	ensembl	human	known	74_37	silent	SNP	0.996	T	T	140208144	C	T	140208144	2	4	98	1	0	0	0	0	0	0	0	1	11530	755	27	1		1	PCDHA6	5	140208144	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	82457399	140208144	40707116	31	5618											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221827	140221827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagtgattcggggtaaTttggattttgaacaagaaaa	11	2	0	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr5:140221827T>C	ENST00000531613.1	+	1	921	c.921T>C	c.(919-921)aaT>aaC	p.N307N	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.N307N	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	307	Cadherin 3. {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)			TTCGGGGTAATTTGGATTTTG	0.393																																																	0								ENSG00000204962						36	40	38					5																	140221827		2190	4294	6484	PCDHA8	SO:0001819	synonymous_variant	0			-	HGNC	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.921T>C	5.37:g.140221827T>C		Somatic	0	92	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	89	14.42	B9EGT7|O75281	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N307	ENST00000531613.1	37	c.921	CCDS54919.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	T	NM_018911	-		140221827	1	no_errors	ENST00000531613	ensembl	human	known	74_37	silent	SNP	0.000	C	C	140221827	T	C	140221827	2	2	98	1	0	0	0	0	0	0	0	1	11532	1490	52	5		5	PCDHA8	5	140221827	Silent	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	13683	140221827	40693433	32	5619											
SLIT3	6586	genome.wustl.edu	37	chr5	168096857	168096857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccccttggtctgagatgtGgcactgcccatggtgacact	11	13	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr5:168096857G>T	ENST00000519560.1	-	35	4686	c.4267C>A	c.(4267-4269)Cac>Aac	p.H1423N	SLIT3_ENST00000404867.3_Missense_Mutation_p.H1423N|CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.H1430N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1423	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGAGATGTGGCACTGCCCA	0.587																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						135	99	111					5																	168096857		2203	4300	6503	SLIT3	SO:0001583	missense	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4267C>A	5.37:g.168096857G>T	ENSP00000430333:p.His1423Asn	Somatic	0	40	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.H1423N	ENST00000519560.1	37	c.4267	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162582	0.38217	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.75050	-0.9;-0.9;-0.9	5.13	5.13	0.70059	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.443504	0.26598	N	0.023498	T	0.65354	0.2683	L	0.40543	1.245	0.22888	N	0.9986	B	0.22003	0.063	B	0.22386	0.039	T	0.55490	-0.8133	10	0.34782	T	0.22	.	11.8776	0.52556	0.0:0.0:0.701:0.299	.	1423	O75094	SLIT3_HUMAN	N	1423;1430;1423	ENSP00000430333:H1423N;ENSP00000332164:H1430N;ENSP00000384890:H1423N	ENSP00000332164:H1430N	H	-	1	0	SLIT3	168029435	1.000000	0.71417	0.896000	0.35187	0.986000	0.74619	3.360000	0.52299	2.353000	0.79882	0.561000	0.74099	CAC	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168096857	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	SNP	0.725	T	T	168096857	G	T	168096857	3	4	98	1	0	0	0	0	1	0	0	0	14749	1348	47	3	312	3	SLIT3	5	168096857	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	27875030	168096857	12818403	33	5620											
HLA-B	3106	genome.wustl.edu	37	chr6	31323115	31323115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcagggtgaggggctTcggcagcccctcatgctgta	13	13	2	1	rs281864645|rs41541515		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:31323115T>C	ENST00000412585.2	-	4	902	c.874A>G	c.(874-876)Aag>Gag	p.K292E		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	292	Alpha-3.|Ig-like C1-type.				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						GTGAGGGGCTTCGGCAGCCCC	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0								ENSG00000234745						60	57	58					6																	31323115		2203	4300	6503	HLA-B	SO:0001583	missense	0	Familial Cancer Database	;Lichen Sclerosis, Familial	-	HGNC	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.874A>G	6.37:g.31323115T>C	ENSP00000399168:p.Lys292Glu	Somatic	0	31	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	Q29764	Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.K292E	ENST00000412585.2	37	c.874	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	1.213	-0.629122	0.03610	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.12361	2.69	3.16	-1.11	0.09840	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.181463	0.26062	N	0.026571	T	0.00754	0.0025	N	0.00729	-1.24	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.41822	-0.9487	10	0.16420	T	0.52	.	4.7803	0.13199	0.0:0.5345:0.1577:0.3077	rs41541515	292	P01889	1B07_HUMAN	E	292;171;171	ENSP00000399168:K292E	ENSP00000399168:K292E	K	-	1	0	HLA-B	31431094	0.000000	0.05858	0.047000	0.18901	0.189000	0.23516	-2.426000	0.01027	-0.413000	0.07507	-0.417000	0.06048	AAG	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	protein_coding	OTTHUMT00000076280.4	T	NM_005514	rs41541515		31323115	-1	no_errors	ENST00000412585	ensembl	human	known	74_37	missense	SNP	0.130	C	C	31323115	T	C	31323115	3	2	98	1	0	0	0	0	1	0	0	0	7198	1792	62	5	230	5	HLA-B	6	31323115	Missense_Mutation	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09		31323115	139791952	34	5621											
C6orf127	340204	genome.wustl.edu	37	chr6	35754852	35754852	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccagacaattgcgagtcGcactgcgcggagaaggggtc	15	11	0	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:35754852G>T	ENST00000373861.5	+	2	271	c.177G>T	c.(175-177)tcG>tcT	p.S59S	CLPSL1_ENST00000542261.1_Silent_p.S58S			A2RUU4	COLL1_HUMAN	colipase-like 1	59					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										ATTGCGAGTCGCACTGCGCGG	0.657																																																	0								ENSG00000204140						24	33	30					6																	35754852		2156	4258	6414	CLPSL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 127"	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.177G>T	6.37:g.35754852G>T		Somatic	1	214	0.47		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	239	10.11	A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Silent	SNP							smart_Colipase,prints_Colipase	p.S59	ENST00000373861.5	37	c.177	CCDS43456.1	6																																																																																			-	smart_Colipase,prints_Colipase		0.657	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLPSL1	protein_coding	OTTHUMT00000040317.2	G	NM_001010886	-		35754852	1	no_errors	ENST00000373861	ensembl	human	known	74_37	silent	SNP	0.001	T	T	35754852	G	T	35754852	2	4	98	1	0	0	0	0	0	0	0	1	2329	1074	38	3		3	C6orf127	6	35754852	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	4431737	35754852	135360215	35	5622											
EYS	346007	genome.wustl.edu	37	chr6	65707520	65707520	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgctcacaggcattcagGatgcagtcatcaatgtcctg	10	10	4	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:65707520G>A	ENST00000370621.3	-	14	2740	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	EYS_ENST00000503581.1_Silent_p.I738I|EYS_ENST00000370616.2_Silent_p.I738I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	738	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AGGCATTCAGGATGCAGTCAT	0.398																																																	0								ENSG00000188107						152	125	133					6																	65707520		692	1591	2283	EYS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2214C>T	6.37:g.65707520G>A		Somatic	0	49	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	58	19.44	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I738	ENST00000370621.3	37	c.2214		6																																																																																			-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	G	XM_294050	-		65707520	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	SNP	0.136	A	A	65707520	G	A	65707520	2	1	98	1	0	0	0	0	0	0	0	1	5334	1164	41	2		2	EYS	6	65707520	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	29952668	65707520	105407547	36	5623											
SNAP91	9892	genome.wustl.edu	37	chr6	84290167	84290167	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaactagattactcActgcctactaagctggcaag	6	9	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:84290167A>T	ENST00000439399.2	-	24	2616		c.e24+1		SNAP91_ENST00000195649.6_Splice_Site|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000519133.1_Splice_Site|SNAP91_ENST00000520213.1_Splice_Site|SNAP91_ENST00000437520.1_Splice_Site|SNAP91_ENST00000428679.2_Splice_Site|SNAP91_ENST00000521743.1_Splice_Site	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TAGATTACTCACTGCCTACTA	0.408																																																	0								ENSG00000065609						84	86	86					6																	84290167		1908	4106	6014	SNAP91	SO:0001630	splice_region_variant	0			-	HGNC	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2299+1T>A	6.37:g.84290167A>T		Somatic	0	45	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Splice_Site	SNP							-	e23+2	ENST00000439399.2	37	c.2299+2	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693049	0.68271	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6409	0.77001	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNAP91	84346886	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.778000	0.75043	2.093000	0.63338	0.533000	0.62120	.	-	-		0.408	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	protein_coding	OTTHUMT00000375296.1	A		-	Intron	84290167	-1	no_errors	ENST00000369694	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	84290167	A	T	84290167	5	4	98	1	0	0	0	0	0	0	1	0	14841	173	6	5	446	5	SNAP91	6	84290167	Splice_Site	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	18582647	84290167	86824900	37	5624											
MICAL1	64780	genome.wustl.edu	37	chr6	109775015	109775015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagctccacagcgacccGcagcccgcaaggtccagcac	10	20	0	0	rs200600122		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:109775015G>A	ENST00000358807.3	-	3	603	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.R117W|MICAL1_ENST00000358577.3_Missense_Mutation_p.R98W	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	98	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACAGCGACCCGCAGCCCGCAA	0.652																																																	0								ENSG00000135596						69	63	65					6																	109775015		2203	4300	6503	MICAL1	SO:0001583	missense	0			-	HGNC	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.292C>T	6.37:g.109775015G>A	ENSP00000351664:p.Arg98Trp	Somatic	0	28	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.R117W	ENST00000358807.3	37	c.349	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998477	0.74818	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.41	4.53	0.55603	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	N	0.08118	0	0.44899	D	0.99791	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.55211	-0.8176	10	0.87932	D	0	.	13.3374	0.60524	0.0:0.0:0.8412:0.1588	.	117;98;98	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	W	98;117;98;98	ENSP00000351664:R98W;ENSP00000357948:R117W;ENSP00000351385:R98W;ENSP00000407075:R98W	ENSP00000351385:R98W	R	-	1	2	MICAL1	109881708	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	3.477000	0.53151	1.502000	0.48669	0.561000	0.74099	CGG	-	pfam_mOase_FAD-bd		0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	protein_coding	OTTHUMT00000041759.2	G	NM_022765	-		109775015	-1	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	SNP	0.995	A	A	109775015	G	A	109775015	3	1	98	1	0	0	0	0	1	0	0	0	9571	1086	38	1	3003	1	MICAL1	6	109775015	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	25484848	109775015	61340052	38	5625											
KIAA1244	57221	genome.wustl.edu	37	chr6	138610965	138610965	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacagtgaaactaaaAgtggagcagaaactggagca	12	7	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:138610965A>T	ENST00000251691.4	+	18	3073	c.2907A>T	c.(2905-2907)aaA>aaT	p.K969N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGAAACTAAAAGTGGAGCAGA	0.478																																																	0								ENSG00000112379						55	47	50					6																	138610965		2203	4299	6502	KIAA1244	SO:0001583	missense	0			-	HGNC	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2907A>T	6.37:g.138610965A>T	ENSP00000251691:p.Lys969Asn	Somatic	0	63	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	40.00		Missense_Mutation	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.K969N	ENST00000251691.4	37	c.2907	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665382	0.47677	.	.	ENSG00000112379	ENST00000251691	T	0.19806	2.12	5.74	4.58	0.56647	.	0.168085	0.53938	D	0.000053	T	0.12263	0.0298	L	0.54323	1.7	0.40557	D	0.981179	P	0.50272	0.933	B	0.42692	0.395	T	0.02026	-1.1227	10	0.51188	T	0.08	-21.3774	11.431	0.50041	0.9298:0.0:0.0702:0.0	.	969	Q5TH69	BIG3_HUMAN	N	969	ENSP00000251691:K969N	ENSP00000251691:K969N	K	+	3	2	KIAA1244	138652658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.930000	0.28858	1.001000	0.39076	0.533000	0.62120	AAA	-	superfamily_ARM-type_fold		0.478	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	protein_coding	OTTHUMT00000042425.4	A	NM_020340	-		138610965	1	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	SNP	1.000	T	T	138610965	A	T	138610965	3	4	98	1	0	0	0	0	1	0	0	0	8219	69	3	5	2977	5	KIAA1244	6	138610965	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	28835950	138610965	32504102	39	5626											
IGF2R	3482	genome.wustl.edu	37	chr6	160461743	160461743	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctatgacctgtccgcgctGgtccgccatgcaggtactgc	12	15	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr6:160461743G>T	ENST00000356956.1	+	11	1615	c.1467G>T	c.(1465-1467)ctG>ctT	p.L489L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	489					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGTCCGCGCTGGTCCGCCATG	0.532																																																	0								ENSG00000197081						124	109	114					6																	160461743		2203	4300	6503	IGF2R	SO:0001819	synonymous_variant	0			-	HGNC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1467G>T	6.37:g.160461743G>T		Somatic	0	63	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	Q7Z7G9|Q96PT5	Silent	SNP							pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.L489	ENST00000356956.1	37	c.1467	CCDS5273.1	6																																																																																			-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	G	NM_000876	-		160461743	1	no_errors	ENST00000356956	ensembl	human	known	74_37	silent	SNP	1.000	T	T	160461743	G	T	160461743	2	4	98	1	0	0	0	0	0	0	0	1	7578	1335	47	3		3	IGF2R	6	160461743	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	21850778	160461743	10653324	40	5627											
C7orf26	79034	genome.wustl.edu	37	chr7	6629958	6629958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgccgcgatgcgctgaGcgccgccaaggaggtgttgt	17	12	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr7:6629958G>A	ENST00000344417.5	+	1	311	c.44G>A	c.(43-45)aGc>aAc	p.S15N	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Missense_Mutation_p.S15N	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	15										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATGCGCTGAGCGCCGCCAAG	0.726																																																	0								ENSG00000146576						16	16	16					7																	6629958		2199	4294	6493	C7orf26	SO:0001583	missense	0			-	HGNC	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.44G>A	7.37:g.6629958G>A	ENSP00000340220:p.Ser15Asn	Somatic	0	31	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q9BQ43	Missense_Mutation	SNP							NULL	p.S15N	ENST00000344417.5	37	c.44	CCDS5353.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.648611	0.96714	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.42900	0.96;0.96	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.63769	-0.6562	10	0.66056	D	0.02	-16.8961	14.5352	0.67955	0.0:0.0:1.0:0.0	.	15;15	Q96N11-2;Q96N11	.;CG026_HUMAN	N	15	ENSP00000340220:S15N;ENSP00000351974:S15N	ENSP00000340220:S15N	S	+	2	0	C7orf26	6596483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.151000	0.94674	2.077000	0.62373	0.643000	0.83706	AGC	-	NULL		0.726	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	protein_coding	OTTHUMT00000246844.2	G	NM_024067	-		6629958	1	no_errors	ENST00000344417	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6629958	G	A	6629958	3	1	98	1	0	0	0	0	1	0	0	0	2383	971	34	2	46	2	C7orf26	7	6629958	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		6629958	152508705	41	5628											
CCDC129	223075	genome.wustl.edu	37	chr7	31682682	31682682	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaaatatgatcatcctctGgggtttatggtaacccacgt	8	10	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr7:31682682G>T	ENST00000407970.3	+	11	1736	c.1698G>T	c.(1696-1698)ctG>ctT	p.L566L	CCDC129_ENST00000319386.3_Silent_p.L418L|CCDC129_ENST00000409210.1_Silent_p.L474L|CCDC129_ENST00000451887.2_Silent_p.L592L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	566										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATCATCCTCTGGGGTTTATGG	0.522																																																	0								ENSG00000180347						175	171	172					7																	31682682		2203	4300	6503	CCDC129	SO:0001819	synonymous_variant	0			-	HGNC	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1698G>T	7.37:g.31682682G>T		Somatic	0	30	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP							NULL	p.L592	ENST00000407970.3	37	c.1776	CCDS5435.2	7																																																																																			-	NULL		0.522	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	protein_coding	OTTHUMT00000318975.1	G	NM_194300	-		31682682	1	no_errors	ENST00000451887	ensembl	human	known	74_37	silent	SNP	0.000	T	T	31682682	G	T	31682682	2	4	98	1	0	0	0	0	0	0	0	1	2766	1335	47	3		3	CCDC129	7	31682682	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	25052724	31682682	127455981	42	5629											
CALCR	799	genome.wustl.edu	37	chr7	93072957	93072957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcaagcgttgcttctcaGtaaacacagccacgacaatg	8	13	1	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr7:93072957G>T	ENST00000394441.1	-	8	1076	c.761C>A	c.(760-762)aCt>aAt	p.T254N	CALCR_ENST00000421592.1_Missense_Mutation_p.T270N|CALCR_ENST00000426151.1_Missense_Mutation_p.T254N|CALCR_ENST00000359558.2_Missense_Mutation_p.T288N|CALCR_ENST00000360249.4_Missense_Mutation_p.T270N	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	288					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGCTTCTCAGTAAACACAGC	0.433																																																	0								ENSG00000004948						140	129	133					7																	93072957		2203	4300	6503	CALCR	SO:0001583	missense	0			-	HGNC	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.761C>A	7.37:g.93072957G>T	ENSP00000377959:p.Thr254Asn	Somatic	0	36	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.T288N	ENST00000394441.1	37	c.863	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541087	0.27563	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.94	-2.95	0.05564	.	.	.	.	.	T	0.18215	0.0437	N	0.17838	0.53	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.22977	-1.0201	9	0.66056	D	0.02	.	1.4764	0.02427	0.2505:0.1068:0.423:0.2197	.	288;254	F5H605;A4D1G6	.;.	N	288;270;270;254;254	ENSP00000352561:T288N;ENSP00000353385:T270N;ENSP00000399552:T270N;ENSP00000377959:T254N;ENSP00000389295:T254N	ENSP00000352561:T288N	T	-	2	0	CALCR	92910893	0.943000	0.32029	0.000000	0.03702	0.000000	0.00434	3.345000	0.52182	-0.727000	0.04888	-0.262000	0.10625	ACT	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.433	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	G	NM_001742	-		93072957	-1	no_errors	ENST00000359558	ensembl	human	known	74_37	missense	SNP	0.000	T	T	93072957	G	T	93072957	3	4	98	1	0	0	0	0	1	0	0	0	2581	1029	36	3	687	3	CALCR	7	93072957	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	61390275	93072957	66065706	43	5630											
PSMC2	5701	genome.wustl.edu	37	chr7	102988198	102988198	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgatcagcggaagaccaaaGaggatgagaaggacgacaag	14	8	1	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr7:102988198G>T	ENST00000435765.1	+	2	451	c.40G>T	c.(40-42)Gag>Tag	p.E14*	DNAJC2_ENST00000412522.1_5'Flank|PSMC2_ENST00000544811.1_5'UTR|DNAJC2_ENST00000379263.3_5'Flank|PSMC2_ENST00000292644.3_Nonsense_Mutation_p.E14*	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	14					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGACCAAAGAGGATGAGAA	0.587																																																	0								ENSG00000161057						137	117	124					7																	102988198		2203	4300	6503	PSMC2	SO:0001587	stop_gained	0			-	HGNC	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.40G>T	7.37:g.102988198G>T	ENSP00000391211:p.Glu14*	Somatic	0	31	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Nonsense_Mutation	SNP							pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E14*	ENST00000435765.1	37	c.40	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.918274	0.99002	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-12.5788	17.9582	0.89076	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000292644:E14X	E	+	1	0	PSMC2	102775434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.131000	0.89601	2.407000	0.81776	0.655000	0.94253	GAG	-	NULL		0.587	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	protein_coding	OTTHUMT00000347922.1	G	NM_002803	-		102988198	1	no_errors	ENST00000292644	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	102988198	G	T	102988198	4	4	98	1	0	0	0	0	0	1	0	0	12691	943	33	3	42	3	PSMC2	7	102988198	Nonsense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	9915241	102988198	56150465	44	5631											
PIK3CG	5294	genome.wustl.edu	37	chr7	106508826	106508826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggattttgtgctgcgcGtctgtggccgggatgagtac	15	8	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr7:106508826G>A	ENST00000359195.3	+	2	1130	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V274I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V274I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	274	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V274I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGCTGCGCGTCTGTGGCCG	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000105851						54	51	52					7																	106508826		2203	4300	6503	PIK3CG	SO:0001583	missense	0			-	HGNC		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.820G>A	7.37:g.106508826G>A	ENSP00000352121:p.Val274Ile	Somatic	0	55	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	56	16.18	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.V274I	ENST00000359195.3	37	c.820	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957818	0.53400	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.79749	-1.3;-1.3;-1.3	5.99	5.99	0.97316	Phosphoinositide 3-kinase, ras-binding (2);	0.053681	0.64402	D	0.000001	T	0.74921	0.3780	L	0.48642	1.525	0.80722	D	1	B	0.29909	0.261	B	0.28916	0.096	T	0.70368	-0.4891	10	0.30854	T	0.27	-35.1478	14.0585	0.64786	0.0769:0.0:0.9231:0.0	.	274	P48736	PK3CG_HUMAN	I	274	ENSP00000392258:V274I;ENSP00000419260:V274I;ENSP00000352121:V274I	ENSP00000352121:V274I	V	+	1	0	PIK3CG	106296062	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.694000	0.74587	2.840000	0.97914	0.655000	0.94253	GTC	-	pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	protein_coding	OTTHUMT00000349294.1	G		-		106508826	1	no_errors	ENST00000359195	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106508826	G	A	106508826	3	1	98	1	0	0	0	0	1	0	0	0	11918	1145	40	1	822	1	PIK3CG	7	106508826	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	3520628	106508826	52629837	45	5632											
CPA5	93979	genome.wustl.edu	37	chr7	130002370	130002370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccaccggcatctggaCtgccaataaggtcagcatgg	11	13	2	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr7:130002370C>T	ENST00000485477.1	+	7	1755	c.626C>T	c.(625-627)aCt>aTt	p.T209I	CPA5_ENST00000474905.1_Missense_Mutation_p.T209I|CPA5_ENST00000466363.2_Missense_Mutation_p.T209I|CPA5_ENST00000461828.1_Missense_Mutation_p.T209I|CPA5_ENST00000393213.3_Missense_Mutation_p.T209I|CPA5_ENST00000431780.2_Missense_Mutation_p.T209I|CPA5_ENST00000355388.3_Missense_Mutation_p.T209I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	209						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGCATCTGGACTGCCAATAAG	0.552																																																	0								ENSG00000158525						41	38	39					7																	130002370		2203	4300	6503	CPA5	SO:0001583	missense	0			-	HGNC	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.626C>T	7.37:g.130002370C>T	ENSP00000420237:p.Thr209Ile	Somatic	0	9	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.T209I	ENST00000485477.1	37	c.626	CCDS5819.1	7	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160189	0.21454	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92	5.61	-0.89	0.10577	Peptidase M14, carboxypeptidase A (3);	0.593815	0.16952	N	0.192848	T	0.03220	0.0094	N	0.01535	-0.81	0.09310	N	1	B;B	0.18863	0.031;0.012	B;B	0.18561	0.013;0.022	T	0.45877	-0.9231	9	.	.	.	.	10.1531	0.42805	0.0:0.4201:0.0:0.5799	.	209;209	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	I	209	ENSP00000347549:T209I;ENSP00000418183:T209I;ENSP00000419025:T209I;ENSP00000420237:T209I;ENSP00000393045:T209I;ENSP00000417314:T209I;ENSP00000376907:T209I	.	T	+	2	0	CPA5	129789606	0.002000	0.14202	0.523000	0.27875	0.792000	0.44763	-0.002000	0.12924	-0.526000	0.06383	0.591000	0.81541	ACT	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.552	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	protein_coding	OTTHUMT00000349712.1	C	NM_001127441	-		130002370	1	no_errors	ENST00000355388	ensembl	human	known	74_37	missense	SNP	0.029	T	T	130002370	C	T	130002370	3	4	98	1	0	0	0	0	1	0	0	0	3795	565	20	2	648	2	CPA5	7	130002370	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	23493544	130002370	29136293	46	5633											
SGK223	157285	genome.wustl.edu	37	chr8	8234306	8234306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggggaatggcgggcctcTccttgggcttgctctcgctg	17	11	2	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:8234306T>C	ENST00000520004.1	-	3	1877	c.1613A>G	c.(1612-1614)gAg>gGg	p.E538G	SGK223_ENST00000330777.4_Missense_Mutation_p.E538G			Q86YV5	SG223_HUMAN		540							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGCGGGCCTCTCCTTGGGCTT	0.637																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						21	25	24					8																	8234306		2008	4152	6160	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.1613A>G	8.37:g.8234306T>C	ENSP00000428054:p.Glu538Gly	Somatic	0	53	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	Q8N3N5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E538G	ENST00000520004.1	37	c.1613	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.259653	0.00262	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57907	0.37;0.37	5.04	2.06	0.26882	.	0.736203	0.12505	N	0.462931	T	0.21186	0.0510	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19712	-1.0297	10	0.21540	T	0.41	.	4.2908	0.10878	0.0:0.4705:0.164:0.3655	.	538	Q86YV5	SG223_HUMAN	G	538	ENSP00000330930:E538G;ENSP00000428054:E538G	ENSP00000330930:E538G	E	-	2	0	AC068353.1	8271716	0.000000	0.05858	0.131000	0.22000	0.126000	0.20510	0.256000	0.18351	0.221000	0.20879	-0.177000	0.13119	GAG	-	NULL		0.637	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	T		-		8234306	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.003	C	C	8234306	T	C	8234306	3	2	98	1	0	0	0	0	1	0	0	0	14218	1551	54	5	2611	5	SGK223	8	8234306	Missense_Mutation	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09		8234306	138129716	47	5634											
SLC7A2	6542	genome.wustl.edu	37	chr8	17401182	17401182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtcggagagctgtggGccttcatcactggctggaat	14	9	2	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:17401182G>T	ENST00000494857.1	+	3	552	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	SLC7A2_ENST00000522656.1_Missense_Mutation_p.A112S|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A152S|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A152S|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A152S	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	112					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGCTGTGGGCCTTCATCAC	0.483																																																	0								ENSG00000003989						112	100	104					8																	17401182		2203	4300	6503	SLC7A2	SO:0001583	missense	0			-	HGNC	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.334G>T	8.37:g.17401182G>T	ENSP00000419140:p.Ala112Ser	Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.A152S	ENST00000494857.1	37	c.454	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.413656	0.96072	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	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	0.997;0.998;1.0	D	0.98220	1.0477	10	0.87932	D	0	.	20.0897	0.97814	0.0:0.0:1.0:0.0	.	152;152;112	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	S	112;112;152;152;152	ENSP00000419140:A112S;ENSP00000430464:A112S;ENSP00000419873:A152S;ENSP00000004531:A152S;ENSP00000381164:A152S	ENSP00000004531:A152S	A	+	1	0	SLC7A2	17445561	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.823000	0.99369	2.832000	0.97577	0.655000	0.94253	GCC	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.483	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	G	NM_003046	-		17401182	1	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17401182	G	T	17401182	3	4	98	1	0	0	0	0	1	0	0	0	14705	1203	42	3	460	3	SLC7A2	8	17401182	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	9166876	17401182	128962840	48	5635											
ADAMDEC1	27299	genome.wustl.edu	37	chr8	24256526	24256526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttctaacctggggaaaaAgatccacgaccatgctcagc	9	12	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:24256526A>G	ENST00000256412.4	+	9	1122	c.902A>G	c.(901-903)aAg>aGg	p.K301R	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.K222R|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.K222R	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	301	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTGGGGAAAAAGATCCACGAC	0.512																																					Ovarian(147;687 1849 3699 25981 31337)												0								ENSG00000134028						94	83	87					8																	24256526		2203	4300	6503	ADAMDEC1	SO:0001583	missense	0			-	HGNC	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.902A>G	8.37:g.24256526A>G	ENSP00000256412:p.Lys301Arg	Somatic	0	50	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B7ZAK5	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K301R	ENST00000256412.4	37	c.902	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452705	0.26074	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.64438	-0.1;-0.1;-0.1	5.88	1.26	0.21427	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.263595	0.33023	N	0.005363	T	0.56587	0.1995	L	0.45352	1.415	0.09310	N	1	B	0.28512	0.214	P	0.48982	0.597	T	0.52139	-0.8615	10	0.05620	T	0.96	-7.9251	3.1732	0.06560	0.5029:0.0:0.3057:0.1914	.	301	O15204	ADEC1_HUMAN	R	301;222;222	ENSP00000256412:K301R;ENSP00000442592:K222R;ENSP00000428993:K222R	ENSP00000256412:K301R	K	+	2	0	ADAMDEC1	24312471	0.000000	0.05858	0.019000	0.16419	0.440000	0.31957	-0.750000	0.04808	-0.039000	0.13602	0.533000	0.62120	AAG	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.512	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	protein_coding	OTTHUMT00000215149.2	A	NM_014479	-		24256526	1	no_errors	ENST00000256412	ensembl	human	known	74_37	missense	SNP	0.005	G	G	24256526	A	G	24256526	3	3	98	1	0	0	0	0	1	0	0	0	254	72	3	5	936	5	ADAMDEC1	8	24256526	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	6855344	24256526	122107496	49	5636											
PXDNL	137902	genome.wustl.edu	37	chr8	52721812	52721812	+	Frame_Shift_Del	DEL	A	A	-													atgcagcggacggtgctcttAaagcaaaggcaccggctggg							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:52721812delA	ENST00000356297.4	-	1	193	c.93delT	c.(91-93)tttfs	p.F31fs	RP11-11C20.3_ENST00000605991.1_lincRNA|PXDNL_ENST00000543296.1_Frame_Shift_Del_p.F31fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	31	LRRNT.				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)			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)				CGGTGCTCTTAAAGCAAAGGC	0.572																																																	0								ENSG00000147485						89	86	87					8																	52721812		2013	4187	6200	PXDNL	SO:0001589	frameshift_variant	0				HGNC		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.93delT	8.37:g.52721812delA	ENSP00000348645:p.Phe31fs	Somatic	0	37	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Del	DEL							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.F31fs	ENST00000356297.4	37	c.93	CCDS47855.1	8																																																																																			-	NULL		0.572	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	A	NM_144651			52721812	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	frame_shift_del	DEL	0.375	-	-	52721812	A	-	52721812	7	5	98	1	0	1	0	1	0	0	0	0	12856	359	13	0	4390	0	PXDNL	8	52721812	Frame_Shift_Del	DEL	A	TCGA-DX-A8BL-01A-11D-A417-09	28465286	52721812	93642210	50	5637											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110527530	110527530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttaataaccatctgtaCaaaggtattgtctcagaaaa	6	7	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:110527530C>T	ENST00000378402.5	+	72	11789	c.11685C>T	c.(11683-11685)taC>taT	p.Y3895Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3895					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)			ACCATCTGTACAAAGGTATTG	0.303										HNSCC(38;0.096)																																							0								ENSG00000205038						76	65	68					8																	110527530		1831	4078	5909	PKHD1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.11685C>T	8.37:g.110527530C>T		Somatic	0	83	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	93	14.68	Q567P2|Q9UF27	Silent	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Y3895	ENST00000378402.5	37	c.11685	CCDS47911.1	8																																																																																			-	NULL		0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110527530	1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	SNP	0.000	T	T	110527530	C	T	110527530	2	4	98	1	0	0	0	0	0	0	0	1	11974	489	17	2		2	PKHD1L1	8	110527530	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	57805718	110527530	35836492	51	5638											
FER1L6	654463	genome.wustl.edu	37	chr8	125061960	125061960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catcttttgtgggaatctctCtggaggggatctccttgctg	12	9	4	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:125061960C>G	ENST00000522917.1	+	22	3043	c.2837C>G	c.(2836-2838)tCt>tGt	p.S946C	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S946C|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	946						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGGAATCTCTCTGGAGGGGAT	0.532																																																	0								ENSG00000214814						117	117	117					8																	125061960		1941	4148	6089	FER1L6	SO:0001583	missense	0			-	HGNC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2837C>G	8.37:g.125061960C>G	ENSP00000428280:p.Ser946Cys	Somatic	0	51	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	71	15.29		Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.S946C	ENST00000522917.1	37	c.2837	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034115	0.75617	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81821	-1.54;-1.54	5.91	4.95	0.65309	C2 calcium/lipid-binding domain, CaLB (1);	0.232564	0.36854	U	0.002367	D	0.83110	0.5183	L	0.39898	1.24	0.53688	D	0.999971	D	0.67145	0.996	P	0.57502	0.822	T	0.82890	-0.0233	10	0.45353	T	0.12	.	17.4767	0.87661	0.1325:0.8675:0.0:0.0	.	946	Q2WGJ9	FR1L6_HUMAN	C	946	ENSP00000428280:S946C;ENSP00000381982:S946C	ENSP00000381982:S946C	S	+	2	0	FER1L6	125131141	0.115000	0.22152	1.000000	0.80357	0.964000	0.63967	3.581000	0.53914	2.793000	0.96121	0.655000	0.94253	TCT	-	superfamily_C2_dom		0.532	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	C	NM_001039112	-		125061960	1	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	SNP	0.999	G	G	125061960	C	G	125061960	3	3	98	1	0	0	0	0	1	0	0	0	5817	913	32	4	2919	4	FER1L6	8	125061960	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	14534430	125061960	21302062	52	5639											
EIF2C2	27161	genome.wustl.edu	37	chr8	141568603	141568603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttggtgactggcgggccGccgggtcacattgcagacgc	16	12	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:141568603G>A	ENST00000220592.5	-	7	971	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	AGO2_ENST00000519980.1_Missense_Mutation_p.R287W	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	287	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CTGGCGGGCCGCCGGGTCACA	0.592																																																	0								ENSG00000123908						133	128	129					8																	141568603		2203	4300	6503	AGO2	SO:0001583	missense	0			-	HGNC	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.859C>T	8.37:g.141568603G>A	ENSP00000220592:p.Arg287Trp	Somatic	0	42	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.30	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R287W	ENST00000220592.5	37	c.859	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080030	0.55753	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.14516	2.5;2.5	4.82	1.94	0.25998	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	M	0.89840	3.065	0.58432	D	0.999999	D;D	0.62365	0.989;0.991	P;P	0.60949	0.81;0.881	T	0.15954	-1.0419	10	0.72032	D	0.01	-37.7745	8.6774	0.34187	0.0719:0.0:0.6576:0.2706	.	287;287	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	W	287	ENSP00000220592:R287W;ENSP00000430176:R287W	ENSP00000220592:R287W	R	-	1	2	EIF2C2	141637785	1.000000	0.71417	0.942000	0.38095	0.564000	0.35744	2.692000	0.47018	0.161000	0.19458	0.650000	0.86243	CGG	-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom		0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	protein_coding	OTTHUMT00000377866.4	G		-		141568603	-1	no_errors	ENST00000220592	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141568603	G	A	141568603	3	1	98	1	0	0	0	0	1	0	0	0	5008	1086	38	1	1772	1	EIF2C2	8	141568603	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	16506643	141568603	4795419	53	5640											
PARP10	84875	genome.wustl.edu	37	chr8	145059028	145059028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctgcagaccccacaGgccccaggctcatgggcccc	12	19	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr8:145059028G>T	ENST00000313028.7	-	5	1236	c.1142C>A	c.(1141-1143)cCt>cAt	p.P381H	PARP10_ENST00000524918.1_Missense_Mutation_p.P381H|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.P393H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	381					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGACCCCACAGGCCCCAGGCT	0.637																																																	0								ENSG00000178685						61	70	67					8																	145059028		2203	4300	6503	PARP10	SO:0001583	missense	0			-	HGNC	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1142C>A	8.37:g.145059028G>T	ENSP00000325618:p.Pro381His	Somatic	0	45	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.P381H	ENST00000313028.7	37	c.1142	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772674	0.49680	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.33654	2.75;2.78;2.77;1.4	3.84	-0.444	0.12245	.	0.733939	0.11555	U	0.552356	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49253	0.875;0.921;0.875	B;B;B	0.39027	0.187;0.288;0.187	T	0.11470	-1.0586	10	0.26408	T	0.33	.	1.1092	0.01700	0.2037:0.1804:0.4314:0.1846	.	393;381;381	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	H	381;87;381;393;296	ENSP00000431620:P381H;ENSP00000325618:P381H;ENSP00000434776:P393H;ENSP00000314320:P296H	ENSP00000325618:P381H	P	-	2	0	PARP10	145131016	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.954000	0.29175	-0.109000	0.12044	0.552000	0.68991	CCT	-	NULL		0.637	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	protein_coding	OTTHUMT00000383866.1	G	NM_032789	-		145059028	-1	no_errors	ENST00000313028	ensembl	human	known	74_37	missense	SNP	0.000	T	T	145059028	G	T	145059028	3	4	98	1	0	0	0	0	1	0	0	0	11457	1000	35	3	1963	3	PARP10	8	145059028	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	3490425	145059028	1304994	54	5641											
TRPM6	140803	genome.wustl.edu	37	chr9	77377199	77377199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgatgctaaacacaccaGtttcatcaccttctgaaaat	4	11	4	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr9:77377199G>A	ENST00000360774.1	-	26	4625	c.4388C>T	c.(4387-4389)aCt>aTt	p.T1463I	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.T1463I|TRPM6_ENST00000449912.2_Missense_Mutation_p.T1458I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1458I|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1463I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1463					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAACACACCAGTTTCATCACC	0.493																																																	0								ENSG00000119121						121	120	120					9																	77377199		2203	4300	6503	TRPM6	SO:0001583	missense	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4388C>T	9.37:g.77377199G>A	ENSP00000354006:p.Thr1463Ile	Somatic	0	31	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.T1463I	ENST00000360774.1	37	c.4388	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109328	0.20714	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.54866	0.64;0.64;0.64;0.64;0.55	5.81	2.94	0.34122	.	0.801075	0.11828	N	0.525526	T	0.31670	0.0804	N	0.08118	0	0.20638	N	0.999871	P;P;P	0.41524	0.638;0.465;0.753	B;B;B	0.40534	0.178;0.165;0.332	T	0.10520	-1.0626	10	0.72032	D	0.01	.	6.4442	0.21867	0.2048:0.0:0.6269:0.1683	.	1463;1458;1458	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1463;1463;1458;1458;1463	ENSP00000354006:T1463I;ENSP00000407341:T1463I;ENSP00000396672:T1458I;ENSP00000354962:T1458I;ENSP00000366060:T1463I	ENSP00000354006:T1463I	T	-	2	0	TRPM6	76567019	0.891000	0.30450	0.433000	0.26760	0.091000	0.18340	1.184000	0.32053	1.451000	0.47736	0.655000	0.94253	ACT	-	NULL		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	G	NM_017662	-		77377199	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	SNP	0.227	A	A	77377199	G	A	77377199	3	1	98	1	0	0	0	0	1	0	0	0	16597	1029	36	2	1736	2	TRPM6	9	77377199	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		77377199	63836232	55	5642											
SEMA4D	10507	genome.wustl.edu	37	chr9	92001316	92001316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagggtctggactggcTcaaagtcctggaagagctgg	16	9	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr9:92001316T>C	ENST00000450295.1	-	13	2188	c.1412A>G	c.(1411-1413)gAg>gGg	p.E471G	SEMA4D_ENST00000420987.1_Missense_Mutation_p.E471G|SEMA4D_ENST00000422704.2_Missense_Mutation_p.E471G|SEMA4D_ENST00000339861.4_Missense_Mutation_p.E471G|SEMA4D_ENST00000356444.2_Missense_Mutation_p.E471G|SEMA4D_ENST00000343780.4_Missense_Mutation_p.E471G|SEMA4D_ENST00000455551.2_Missense_Mutation_p.E471G|SEMA4D_ENST00000438547.2_Missense_Mutation_p.E471G			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTGGACTGGCTCAAAGTCCTG	0.582																																																	0								ENSG00000187764						123	110	114					9																	92001316		2203	4300	6503	SEMA4D	SO:0001583	missense	0			-	HGNC	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1412A>G	9.37:g.92001316T>C	ENSP00000416523:p.Glu471Gly	Somatic	0	41	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.E471G	ENST00000450295.1	37	c.1412	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296893	0.40594	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.63	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.194237	0.53938	D	0.000048	T	0.34978	0.0916	M	0.82056	2.57	0.47245	D	0.999366	P;P	0.42078	0.77;0.534	B;B	0.34536	0.081;0.185	T	0.48151	-0.9060	10	0.72032	D	0.01	.	14.2199	0.65820	0.0:0.0:0.0:1.0	.	471;471	Q92854-2;Q92854	.;SEM4D_HUMAN	G	471	ENSP00000344923:E471G;ENSP00000391733:E471G;ENSP00000411981:E471G;ENSP00000343418:E471G;ENSP00000416523:E471G;ENSP00000405102:E471G;ENSP00000348822:E471G;ENSP00000388768:E471G	ENSP00000344923:E471G	E	-	2	0	SEMA4D	91191136	1.000000	0.71417	0.790000	0.31976	0.087000	0.18053	3.687000	0.54692	1.960000	0.56953	0.459000	0.35465	GAG	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	protein_coding	OTTHUMT00000342411.1	T	NM_006378	-		92001316	-1	no_errors	ENST00000356444	ensembl	human	known	74_37	missense	SNP	1.000	C	C	92001316	T	C	92001316	3	2	98	1	0	0	0	0	1	0	0	0	14042	1551	54	5	1762	5	SEMA4D	9	92001316	Missense_Mutation	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	14624117	92001316	49212115	56	5643											
GRIN3A	116443	genome.wustl.edu	37	chr9	104433255	104433255	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgccagctgcccaagCgggtccacattggctttccc	9	19	0	0	rs34755188	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr9:104433255C>G	ENST00000361820.3	-	3	2039	c.1439G>C	c.(1438-1440)cGc>cCc	p.R480P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	480			R -> H (in dbSNP:rs34755188).		calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCTGCCCAAGCGGGTCCACAT	0.493																																																	0								ENSG00000198785						156	158	157					9																	104433255		2203	4300	6503	GRIN3A	SO:0001583	missense	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1439G>C	9.37:g.104433255C>G	ENSP00000355155:p.Arg480Pro	Somatic	0	36	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.R480P	ENST00000361820.3	37	c.1439	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833240	0.71258	.	.	ENSG00000198785	ENST00000361820	D	0.85484	-1.99	5.76	5.76	0.90799	.	0.122006	0.56097	D	0.000028	D	0.91161	0.7216	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	P	0.59115	0.852	D	0.90920	0.4782	10	0.62326	D	0.03	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	480	Q8TCU5	NMD3A_HUMAN	P	480	ENSP00000355155:R480P	ENSP00000355155:R480P	R	-	2	0	GRIN3A	103473076	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.860000	0.62961	2.882000	0.98803	0.655000	0.94253	CGC	-	superfamily_Peripla_BP_I		0.493	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	C		-		104433255	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104433255	C	G	104433255	3	3	98	1	0	0	0	0	1	0	0	0	6785	768	27	4	1936	4	GRIN3A	9	104433255	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	12431939	104433255	36780176	57	5644											
PAPPA	5069	genome.wustl.edu	37	chr9	118997486	118997486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaattcagctgtcaacCcacacacggttcctccagcc	6	18	2	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr9:118997486C>T	ENST00000328252.3	+	7	2671	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	768					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTGTCAACCCACACACGGT	0.552																																																	0								ENSG00000182752						118	96	103					9																	118997486		2203	4300	6503	PAPPA	SO:0001583	missense	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2302C>T	9.37:g.118997486C>T	ENSP00000330658:p.Pro768Ser	Somatic	0	34	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P768S	ENST00000328252.3	37	c.2302	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050027	0.19827	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01613	4.73	6.04	6.04	0.98038	.	0.456470	0.26673	N	0.023094	T	0.01765	0.0056	N	0.12182	0.205	0.80722	D	1	B;B	0.21821	0.061;0.02	B;B	0.19946	0.027;0.008	T	0.67288	-0.5708	10	0.19147	T	0.46	-2.5994	19.583	0.95478	0.0:1.0:0.0:0.0	.	212;768	E7EMD3;Q13219	.;PAPP1_HUMAN	S	768;212	ENSP00000330658:P768S	ENSP00000330658:P768S	P	+	1	0	PAPPA	118037307	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.579000	0.53900	2.873000	0.98535	0.563000	0.77884	CCA	-	superfamily_Fibronectin_type3		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	C	NM_002581	-		118997486	1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	SNP	0.996	T	T	118997486	C	T	118997486	3	4	98	1	0	0	0	0	1	0	0	0	11434	623	22	2	2328	2	PAPPA	9	118997486	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	14564231	118997486	22215945	58	5645											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123205989	123205989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgctctcctgggctGtcctggtaggctgctcccac	10	16	2	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr9:123205989G>T	ENST00000349780.4	-	23	3236	c.3057C>A	c.(3055-3057)gaC>gaA	p.D1019E	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D987E|CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1019E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1019	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCCTGGGCTGTCCTGGTAGG	0.453																																																	0								ENSG00000136861						146	132	137					9																	123205989		2203	4300	6503	CDK5RAP2	SO:0001583	missense	0			-	HGNC	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3057C>A	9.37:g.123205989G>T	ENSP00000343818:p.Asp1019Glu	Somatic	0	29	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP							pfam_Spindle_assoc	p.D1019E	ENST00000349780.4	37	c.3057	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981204	0.18812	.	.	ENSG00000136861	ENST00000360822;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T	0.18502	3.88;3.89;3.8;2.21	3.98	1.86	0.25419	.	0.748645	0.11869	N	0.521649	T	0.14013	0.0339	L	0.32530	0.975	0.43313	D	0.995328	B;B;B;B;P	0.40476	0.017;0.009;0.126;0.01;0.718	B;B;B;B;B	0.41088	0.005;0.005;0.053;0.002;0.347	T	0.13575	-1.0504	10	0.29301	T	0.29	.	9.5048	0.39040	0.0:0.4264:0.5736:0.0	.	788;987;1019;1019;413	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	E	987;1019;1019;413;791	ENSP00000354065:D987E;ENSP00000343818:D1019E;ENSP00000353317:D1019E;ENSP00000400395:D413E	ENSP00000341695:D791E	D	-	3	2	CDK5RAP2	122245810	0.004000	0.15560	0.503000	0.27626	0.519000	0.34347	-0.229000	0.09098	0.946000	0.37632	0.462000	0.41574	GAC	-	NULL		0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	protein_coding	OTTHUMT00000055535.1	G	NM_018249	-		123205989	-1	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	SNP	0.717	T	T	123205989	G	T	123205989	3	4	98	1	0	0	0	0	1	0	0	0	3148	1368	48	3	2688	3	CDK5RAP2	9	123205989	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	4208503	123205989	18007442	59	5646											
BEND7	222389	genome.wustl.edu	37	chr10	13541962	13541962	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagactaaatccaggtcctgGggctcttcttttagtttctc	8	11	3	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr10:13541962G>C	ENST00000396900.2	-	3	263	c.264C>G	c.(262-264)ccC>ccG	p.P88P	BEND7_ENST00000378605.3_Silent_p.P36P|BEND7_ENST00000341083.3_Silent_p.P36P|BEND7_ENST00000396898.2_Silent_p.P88P			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	88						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CCAGGTCCTGGGGCTCTTCTT	0.517																																																	0								ENSG00000165626						104	106	105					10																	13541962		2203	4300	6503	BEND7	SO:0001819	synonymous_variant	0			-	HGNC	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.264C>G	10.37:g.13541962G>C		Somatic	0	56	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP							pfam_BEN_domain	p.P88	ENST00000396900.2	37	c.264		10																																																																																			-	NULL		0.517	BEND7-202	KNOWN	basic	protein_coding	BEND7	protein_coding		G	NM_152751	-		13541962	-1	no_errors	ENST00000396900	ensembl	human	known	74_37	silent	SNP	1.000	C	C	13541962	G	C	13541962	2	2	98	1	0	0	0	0	0	0	0	1	1403	1219	43	4		4	BEND7	10	13541962	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		13541962	121992785	60	5647											
KIF20B	9585	genome.wustl.edu	37	chr10	91492692	91492692	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatcttctttaataataaaCaataaattgatttgtaatga	3	4	2	2	rs189443463	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr10:91492692C>G	ENST00000371728.3	+	19	2489	c.2424C>G	c.(2422-2424)aaC>aaG	p.N808K	KIF20B_ENST00000416354.1_Missense_Mutation_p.N808K|KIF20B_ENST00000394289.2_Missense_Mutation_p.N808K|KIF20B_ENST00000260753.4_Missense_Mutation_p.N768K|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	808					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.N768N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAATAATAAACAATAAATTGA	0.264																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000138182						47	52	50					10																	91492692		2202	4286	6488	KIF20B	SO:0001583	missense	0			-	HGNC	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2424C>G	10.37:g.91492692C>G	ENSP00000360793:p.Asn808Lys	Somatic	0	79	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	74	18.68	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N808K	ENST00000371728.3	37	c.2424		10	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144655	0.01714	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.08	0.868	0.19090	.	0.116371	0.38605	N	0.001633	T	0.10165	0.0249	L	0.57536	1.79	0.09310	N	1	B;B	0.27853	0.191;0.002	B;B	0.26770	0.073;0.005	T	0.31752	-0.9932	10	0.02654	T	1	-1.0075	1.0938	0.01668	0.1543:0.3695:0.1347:0.3414	.	808;768	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	768;808;808;808	ENSP00000260753:N768K;ENSP00000411545:N808K;ENSP00000377830:N808K;ENSP00000360793:N808K	ENSP00000260753:N768K	N	+	3	2	KIF20B	91482672	0.000000	0.05858	0.020000	0.16555	0.004000	0.04260	-0.881000	0.04179	0.331000	0.23511	-0.812000	0.03155	AAC	-	NULL		0.264	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	protein_coding	OTTHUMT00000049330.1	C	NM_016195	-		91492692	1	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	SNP	0.004	G	G	91492692	C	G	91492692	3	3	98	1	0	0	0	0	1	0	0	0	8289	477	17	4	2374	4	KIF20B	10	91492692	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	77950730	91492692	44042055	61	5648											
CYP2C18	1562	genome.wustl.edu	37	chr10	96484253	96484253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacctgccccatgcagtgaCctgtgatgttaaattcaaaa	7	11	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr10:96484253C>A	ENST00000285979.6	+	7	1311	c.1112C>A	c.(1111-1113)aCc>aAc	p.T371N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.T312N|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	371					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CATGCAGTGACCTGTGATGTT	0.473																																																	0								ENSG00000108242						216	184	195					10																	96484253		2203	4300	6503	CYP2C18	SO:0001583	missense	0			-	HGNC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1112C>A	10.37:g.96484253C>A	ENSP00000285979:p.Thr371Asn	Somatic	0	62	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.T371N	ENST00000285979.6	37	c.1112	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	c	6.178	0.400932	0.11696	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69926	-0.44;-0.44	4.15	1.19	0.21007	.	0.356476	0.25780	U	0.028349	T	0.71771	0.3379	M	0.79805	2.47	0.09310	N	1	P;B	0.52061	0.95;0.049	P;B	0.53224	0.721;0.063	T	0.63033	-0.6727	10	0.51188	T	0.08	.	6.6338	0.22872	0.0:0.5867:0.0:0.4133	.	312;371	Q4VAT5;P33260	.;CP2CI_HUMAN	N	312;371	ENSP00000341293:T312N;ENSP00000285979:T371N	ENSP00000285979:T371N	T	+	2	0	CYP2C18	96474243	0.000000	0.05858	0.006000	0.13384	0.393000	0.30537	-0.025000	0.12413	0.050000	0.15949	0.313000	0.20887	ACC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B		0.473	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	protein_coding	OTTHUMT00000049486.1	C	NM_000772	-		96484253	1	no_errors	ENST00000285979	ensembl	human	known	74_37	missense	SNP	0.000	A	A	96484253	C	A	96484253	3	1	98	1	0	0	0	0	1	0	0	0	4167	507	18	3	1138	3	CYP2C18	10	96484253	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	4991561	96484253	39050494	62	5649											
BTBD16	118663	genome.wustl.edu	37	chr10	124089035	124089035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggaccgggacataggaCggagcttgaggccgctcttc	14	11	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr10:124089035C>T	ENST00000260723.4	+	11	1203	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	BTBD16_ENST00000368994.2_Missense_Mutation_p.R319W	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	318			R -> Q (in dbSNP:rs2421013).							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)				GGACATAGGACGGAGCTTGAG	0.547																																																	0								ENSG00000138152						155	139	144					10																	124089035		2203	4300	6503	BTBD16	SO:0001583	missense	0			-	HGNC	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.952C>T	10.37:g.124089035C>T	ENSP00000260723:p.Arg318Trp	Somatic	0	45	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP							superfamily_BTB/POZ_fold	p.R319W	ENST00000260723.4	37	c.955	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393856	0.25205	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.18810	2.2;2.19	5.77	4.87	0.63330	.	0.528955	0.17254	N	0.181049	T	0.10423	0.0255	N	0.08118	0	0.09310	N	0.999997	B;B	0.31125	0.309;0.309	B;B	0.15870	0.014;0.014	T	0.16837	-1.0389	10	0.66056	D	0.02	-2.4355	10.7789	0.46367	0.0:0.9132:0.0:0.0868	.	319;318	Q32M84-2;Q32M84	.;BTBDG_HUMAN	W	318;319	ENSP00000260723:R318W;ENSP00000357990:R319W	ENSP00000260723:R318W	R	+	1	2	BTBD16	124079025	0.812000	0.29077	0.469000	0.27204	0.033000	0.12548	0.646000	0.24797	1.440000	0.47531	0.655000	0.94253	CGG	-	NULL		0.547	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	protein_coding	OTTHUMT00000050780.3	C	NM_144587	-		124089035	1	no_errors	ENST00000368994	ensembl	human	known	74_37	missense	SNP	0.969	T	T	124089035	C	T	124089035	3	4	98	1	0	0	0	0	1	0	0	0	1543	527	19	1	990	1	BTBD16	10	124089035	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	27604782	124089035	11445712	63	5650											
KNDC1	85442	genome.wustl.edu	37	chr10	135013927	135013927	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggcagccaaagcccccgCtccccgtccagcaagaggcc	12	18	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr10:135013927C>A	ENST00000304613.3	+	16	2973	c.2952C>A	c.(2950-2952)cgC>cgA	p.R984R	KNDC1_ENST00000368571.2_Silent_p.R919R|KNDC1_ENST00000368572.2_Silent_p.R986R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	984					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AAAGCCCCCGCTCCCCGTCCA	0.706																																																	0								ENSG00000171798						22	22	22					10																	135013927		2177	4289	6466	KNDC1	SO:0001819	synonymous_variant	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2952C>A	10.37:g.135013927C>A		Somatic	0	129	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	126	17.65	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R986	ENST00000304613.3	37	c.2958	CCDS7674.1	10																																																																																			-	NULL		0.706	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	C	NM_152643	-		135013927	1	no_errors	ENST00000368572	ensembl	human	known	74_37	silent	SNP	0.021	A	A	135013927	C	A	135013927	2	1	98	1	0	0	0	0	0	0	0	1	8428	784	28	3		3	KNDC1	10	135013927	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	10924892	135013927	520820	64	5651											
MUC5B	727897	genome.wustl.edu	37	chr11	1267106	1267106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacagagcagaccacagCagccactacgaccgcaacca	7	18	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:1267106C>T	ENST00000529681.1	+	31	9054	c.8996C>T	c.(8995-8997)gCa>gTa	p.A2999V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A3002V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2999	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		CAGACCACAGCAGCCACTACG	0.672																																																	0								ENSG00000117983						107	139	128					11																	1267106		2121	4224	6345	MUC5B	SO:0001583	missense	0			-	HGNC	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.8996C>T	11.37:g.1267106C>T	ENSP00000436812:p.Ala2999Val	Somatic	0	36	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A3002V	ENST00000529681.1	37	c.9005	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	9.398	1.077232	0.20227	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18960	2.18;2.37	3.45	-6.91	0.01649	.	.	.	.	.	T	0.09992	0.0245	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.35051	-0.9804	9	0.87932	D	0	.	6.8592	0.24058	0.1147:0.2269:0.5582:0.1001	.	3582;3002	A7Y9J9;E9PBJ0	.;.	V	2999;3002;2971;2959	ENSP00000436812:A2999V;ENSP00000415793:A3002V	ENSP00000343037:A2971V	A	+	2	0	MUC5B	1223682	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.249000	0.18216	-2.415000	0.00568	0.517000	0.50305	GCA	-	NULL		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093	-		1267106	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.000	T	T	1267106	C	T	1267106	3	4	98	1	0	0	0	0	1	0	0	0	9981	710	25	2	9127	2	MUC5B	11	1267106	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09		1267106	133739410	65	5652											
PRDM11	56981	genome.wustl.edu	37	chr11	45203362	45203362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcccagaccaatgcagcCgtgggggatatggtgacggt	16	9	0	2	rs373948099		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:45203362C>T	ENST00000530656.1	+	2	147	c.147C>T	c.(145-147)gcC>gcT	p.A49A	PRDM11_ENST00000424263.2_Silent_p.A15A|PRDM11_ENST00000263765.4_Silent_p.A49A			Q9NQV5	PRD11_HUMAN	PR domain containing 11	49							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAATGCAGCCGTGGGGGATA	0.597																																					NSCLC(118;1511 1736 6472 36603 43224)												0								ENSG00000019485						98	84	89					11																	45203362		2203	4299	6502	PRDM11	SO:0001819	synonymous_variant	0			-	HGNC	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.147C>T	11.37:g.45203362C>T		Somatic	0	24	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	Q8N9F1	Silent	SNP							pfscan_SET_dom	p.A49	ENST00000530656.1	37	c.147		11																																																																																			-	NULL		0.597	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	protein_coding	OTTHUMT00000389928.1	C	NM_020229	-		45203362	1	no_errors	ENST00000263765	ensembl	human	known	74_37	silent	SNP	0.628	T	T	45203362	C	T	45203362	2	4	98	1	0	0	0	0	0	0	0	1	12457	639	23	1		1	PRDM11	11	45203362	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	43936256	45203362	89803154	66	5653											
CHST1	8534	genome.wustl.edu	37	chr11	45671752	45671752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtctcgctgcgcgaaGccagaatgccgcgggggtct	17	11	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:45671752G>T	ENST00000308064.2	-	4	1392	c.722C>A	c.(721-723)gCt>gAt	p.A241D	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	241					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTGCGCGAAGCCAGAATGCC	0.662																																																	0								ENSG00000175264						52	51	51					11																	45671752		2203	4299	6502	CHST1	SO:0001583	missense	0			-	HGNC	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.722C>A	11.37:g.45671752G>T	ENSP00000309270:p.Ala241Asp	Somatic	0	48	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	63	19.23	D3DQP2	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.A241D	ENST00000308064.2	37	c.722	CCDS7913.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289853	0.80914	.	.	ENSG00000175264	ENST00000308064	D	0.83755	-1.76	4.98	4.98	0.66077	Sulfotransferase domain (1);	0.124930	0.56097	D	0.000039	D	0.89684	0.6786	M	0.73598	2.24	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.87255	0.2275	10	0.20046	T	0.44	-11.0122	18.2637	0.90044	0.0:0.0:1.0:0.0	.	241	O43916	CHST1_HUMAN	D	241	ENSP00000309270:A241D	ENSP00000309270:A241D	A	-	2	0	CHST1	45628328	1.000000	0.71417	0.343000	0.25615	0.974000	0.67602	9.858000	0.99539	2.310000	0.77875	0.462000	0.41574	GCT	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	protein_coding	OTTHUMT00000390127.1	G	NM_003654	-		45671752	-1	no_errors	ENST00000308064	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45671752	G	T	45671752	3	4	98	1	0	0	0	0	1	0	0	0	3399	971	34	3	517	3	CHST1	11	45671752	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	468390	45671752	89334764	67	5654											
MS4A2	2206	genome.wustl.edu	37	chr11	59857896	59857896	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacacattgagggagacAttttttcatcatttaaagca	6	7	3	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:59857896A>C	ENST00000278888.3	+	3	376	c.274A>C	c.(274-276)Att>Ctt	p.I92L		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	92					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGAGGGAGACATTTTTTCATC	0.333																																																	0								ENSG00000149534						206	198	201					11																	59857896		2201	4294	6495	MS4A2	SO:0001583	missense	0			-	HGNC	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.274A>C	11.37:g.59857896A>C	ENSP00000278888:p.Ile92Leu	Somatic	0	79	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	Q54A81	Missense_Mutation	SNP							pfam_CD20-like	p.I92L	ENST00000278888.3	37	c.274	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	A	8.077	0.771495	0.16051	.	.	ENSG00000149534	ENST00000278888	T	0.19394	2.15	4.68	-9.36	0.00629	.	2.115250	0.02606	N	0.101545	T	0.11793	0.0287	N	0.25992	0.78	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.012	T	0.12477	-1.0546	10	0.16896	T	0.51	-0.02	7.1368	0.25533	0.3117:0.0:0.4038:0.2845	.	22;92	Q14298;Q01362	.;FCERB_HUMAN	L	92	ENSP00000278888:I92L	ENSP00000278888:I92L	I	+	1	0	MS4A2	59614472	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-1.953000	0.01526	-3.448000	0.00161	-0.263000	0.10527	ATT	-	pfam_CD20-like		0.333	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	protein_coding	OTTHUMT00000393844.1	A		-		59857896	1	no_errors	ENST00000278888	ensembl	human	known	74_37	missense	SNP	0.000	C	C	59857896	A	C	59857896	3	2	98	1	0	0	0	0	1	0	0	0	9862	217	8	5	284	5	MS4A2	11	59857896	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	14186144	59857896	75148620	68	5655											
SLC22A25	387601	genome.wustl.edu	37	chr11	62996923	62996923	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggagggcatcctggcTgagggtcccagggtcattgt	15	10	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:62996923T>A	ENST00000306494.6	-	1	201	c.202A>T	c.(202-204)Agc>Tgc	p.S68C	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCATCCTGGCTGAGGGTCCCA	0.507																																																	0								ENSG00000196600						141	130	134					11																	62996923		2201	4298	6499	SLC22A25	SO:0001583	missense	0			-	HGNC	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.202A>T	11.37:g.62996923T>A	ENSP00000307443:p.Ser68Cys	Somatic	0	54	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44		Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S68C	ENST00000306494.6	37	c.202	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	T	12.57	1.976533	0.34848	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.37752	1.18	3.81	3.81	0.43845	Major facilitator superfamily domain (1);	7739.210000	0.00166	N	0.000002	T	0.66386	0.2784	M	0.88031	2.925	0.30846	N	0.735106	D;D	0.89917	0.997;1.0	D;D	0.67231	0.928;0.95	T	0.29852	-0.9998	10	0.87932	D	0	.	6.8227	0.23866	0.2079:0.0:0.0:0.7921	.	66;68	A4IF29;Q6T423	.;S22AP_HUMAN	C	68	ENSP00000307443:S68C	ENSP00000307443:S68C	S	-	1	0	SLC22A25	62753499	0.000000	0.05858	0.214000	0.23707	0.364000	0.29643	-0.209000	0.09358	1.507000	0.48752	0.386000	0.25728	AGC	-	pfscan_MFS_dom		0.507	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	protein_coding	OTTHUMT00000383519.3	T	NM_199352	-		62996923	-1	no_errors	ENST00000306494	ensembl	human	known	74_37	missense	SNP	0.364	A	A	62996923	T	A	62996923	3	1	98	1	0	0	0	0	1	0	0	0	14462	1580	55	5	1477	5	SLC22A25	11	62996923	Missense_Mutation	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	3139027	62996923	72009593	69	5656											
NUMA1	10068	genome.wustl.edu	37	chr11	71715046	71715046	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgttgggggaagcctTggacagggccttctttgagg	18	7	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:71715046T>G	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.K939Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.K2061Q|NUMA1_ENST00000393695.3_Missense_Mutation_p.K2075Q	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGGAAGCCTTGGACAGGGCC	0.657																																																	0								ENSG00000137497						71	83	79					11																	71715046		2200	4293	6493	NUMA1	SO:0001628	intergenic_variant	0			-	HGNC	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715046T>G		Somatic	0	74	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	64	22.89	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP							superfamily_Prefoldin	p.K2075Q	ENST00000393703.4	37	c.6223	CCDS8206.2	11	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415825	0.83449	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.27557	1.66;2.13;2.13	4.94	4.94	0.65067	.	0.114873	0.39407	N	0.001369	T	0.43233	0.1238	L	0.29908	0.895	0.38585	D	0.950285	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.83275	0.994;0.976;0.994;0.996	T	0.43782	-0.9370	10	0.48119	T	0.1	.	14.4368	0.67287	0.0:0.0:0.0:1.0	.	2081;2061;2075;939	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	Q	939;2061;2075;1624;1048	ENSP00000260051:K939Q;ENSP00000351851:K2061Q;ENSP00000377298:K2075Q	ENSP00000260051:K939Q	K	-	1	0	NUMA1	71392694	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	5.723000	0.68492	2.081000	0.62600	0.533000	0.62120	AAG	-	NULL		0.657	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUMA1	protein_coding	OTTHUMT00000258012.2	T	NM_173042	-		71715046	-1	no_errors	ENST00000393695	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71715046	T	G	71715046	1	3	98	0	1	0	0	0	0	0	0	0	10752	1821	63	5		5	NUMA1	11	71715046	IGR	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	8718123	71715046	63291470	70	5657											
ANKK1	255239	genome.wustl.edu	37	chr11	113270178	113270178	+	Frame_Shift_Del	DEL	C	C	-													gcatgaggctgagggcaagaCccccctccatgtggccgcct					rs200507206|rs201207634	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr11:113270178delC	ENST00000303941.3	+	8	1581	c.1487delC	c.(1486-1488)accfs	p.T496fs		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	496							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GAGGGCAAGACCCCCCTCCAT	0.582																																																	0								ENSG00000170209						17	19	19					11																	113270178		2017	4185	6202	ANKK1	SO:0001589	frameshift_variant	0				HGNC	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1487delC	11.37:g.113270178delC	ENSP00000306678:p.Thr496fs	Somatic	0	32	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00		Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.L498fs	ENST00000303941.3	37	c.1487	CCDS44734.1	11																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	protein_coding	OTTHUMT00000395830.1	C	NM_178510			113270178	1	no_errors	ENST00000303941	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	113270178	C	-	113270178	7	5	98	1	0	1	0	1	0	0	0	0	631	507	18	0	1517	0	ANKK1	11	113270178	Frame_Shift_Del	DEL	C	TCGA-DX-A8BL-01A-11D-A417-09	41555132	113270178	21736338	71	5658											
WNK1	65125	genome.wustl.edu	37	chr12	1009691	1009691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgcacccccagcagacCctccaccctcctggcaacat	6	20	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:1009691C>T	ENST00000315939.6	+	26	7141	c.6498C>T	c.(6496-6498)acC>acT	p.T2166T	WNK1_ENST00000530271.2_Silent_p.T2664T|WNK1_ENST00000535572.1_Silent_p.T1918T|WNK1_ENST00000340908.4_Silent_p.T1759T|WNK1_ENST00000537687.1_Silent_p.T2426T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2166					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)			CCCAGCAGACCCTCCACCCTC	0.542																																					Colon(19;451 567 6672 12618 28860)												0								ENSG00000060237						161	153	155					12																	1009691		2203	4300	6503	WNK1	SO:0001819	synonymous_variant	0			-	HGNC	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.6498C>T	12.37:g.1009691C>T		Somatic	0	23	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	64	45.30	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T2664	ENST00000315939.6	37	c.7992	CCDS8506.1	12																																																																																			-	NULL		0.542	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	C	NM_018979	-		1009691	1	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1009691	C	T	1009691	2	4	98	1	0	0	0	0	0	0	0	1	17384	610	22	2		2	WNK1	12	1009691	Silent	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09		1009691	132842204	72	5659											
ANO2	57101	genome.wustl.edu	37	chr12	5744346	5744346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagccacttggccacagcGccgtagatctcgtccaggat	12	13	1	2	rs373059086	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:5744346G>A	ENST00000356134.5	-	18	1862	c.1791C>T	c.(1789-1791)ggC>ggT	p.G597G	ANO2_ENST00000327087.8_Silent_p.G596G|ANO2_ENST00000538154.1_5'Flank|ANO2_ENST00000546188.1_Silent_p.G597G	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	601					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						TGGCCACAGCGCCGTAGATCT	0.522													G|||	3	0.000599042	0.0023	0	5008	,	,		17402	0		0	False		,,,				2504	0																0								ENSG00000047617	G		1,4253		0,1,2126	96	96	96		1788	-10.4	0	12		96	0,8470		0,0,4235	no	coding-synonymous	ANO2	NM_020373.2		0,1,6361	AA,AG,GG		0.0,0.0235,0.0079		596/999	5744346	1,12723	2127	4235	6362	ANO2	SO:0001819	synonymous_variant	0			-	HGNC	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.1791C>T	12.37:g.5744346G>A		Somatic	0	49	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43	C4N787|Q9H847	Silent	SNP							pfam_Anoctamin	p.G597	ENST00000356134.5	37	c.1791		12																																																																																			-	pfam_Anoctamin		0.522	ANO2-001	KNOWN	basic	protein_coding	ANO2	protein_coding	OTTHUMT00000399019.4	G	NM_020373	-		5744346	-1	no_errors	ENST00000356134	ensembl	human	known	74_37	silent	SNP	0.016	A	A	5744346	G	A	5744346	2	1	98	1	0	0	0	0	0	0	0	1	697	1074	38	1		1	ANO2	12	5744346	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	4734655	5744346	128107549	73	5660											
ACRBP	57121	genome.wustl.edu	37	chr12	6748176	6748176	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaggaacagtagtttgGgtactggatatagtctgtgt	13	3	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:6748176G>T	ENST00000329858.4	-	0	0				ACRBP_ENST00000229243.2_Missense_Mutation_p.P485T|ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.P452T	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CAGTAGTTTGGGTACTGGATA	0.537																																					NSCLC(74;891 2312 37538)												0								ENSG00000111644						115	108	110					12																	6748176		2203	4300	6503	ACRBP	SO:0001631	upstream_gene_variant	0			-	HGNC	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0			12.37:g.6748176G>T	Exception_encountered	Somatic	0	39	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Missense_Mutation	SNP							pfam_Proacrosin-bd	p.P485T	ENST00000329858.4	37	c.1453	CCDS8553.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171027	0.78452	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.29917	1.55;1.55	4.84	4.84	0.62591	Proteinase inhibitor I1, Kazal (1);	0.000000	0.64402	D	0.000011	T	0.45518	0.1346	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.44697	-0.9311	10	0.87932	D	0	-24.7262	15.8974	0.79344	0.0:0.0:1.0:0.0	.	452;485	E7EP66;Q8NEB7	.;ACRBP_HUMAN	T	485;452	ENSP00000229243:P485T;ENSP00000402725:P452T	ENSP00000229243:P485T	P	-	1	0	ACRBP	6618437	1.000000	0.71417	0.954000	0.39281	0.995000	0.86356	3.959000	0.56744	2.513000	0.84729	0.561000	0.74099	CCA	-	NULL		0.537	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	protein_coding	OTTHUMT00000400699.1	G	NM_020400	-		6748176	-1	no_errors	ENST00000229243	ensembl	human	known	74_37	missense	SNP	0.996	T	T	6748176	G	T	6748176	1	4	98	0	1	0	0	0	0	0	0	0	170	1232	43	3		3	ACRBP	12	6748176	5'Flank	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	1003830	6748176	127103719	74	5661											
PTPRO	5800	genome.wustl.edu	37	chr12	15654724	15654724	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaaattccctcgggcAacatttcttccggttggcct	8	15	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:15654724A>T	ENST00000281171.4	+	5	1162	c.832A>T	c.(832-834)Aac>Tac	p.N278Y	PTPRO_ENST00000348962.2_Missense_Mutation_p.N278Y|PTPRO_ENST00000543886.1_Missense_Mutation_p.N278Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	278	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCCCTCGGGCAACATTTCTTC	0.423																																																	0								ENSG00000151490						67	65	66					12																	15654724		2203	4300	6503	PTPRO	SO:0001583	missense	0			-	HGNC	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.832A>T	12.37:g.15654724A>T	ENSP00000281171:p.Asn278Tyr	Somatic	0	75	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.71	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N278Y	ENST00000281171.4	37	c.832	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	A	8.600	0.886629	0.17540	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03982	3.75;3.74	4.49	4.49	0.54785	.	0.000000	0.47852	D	0.000204	T	0.08044	0.0201	N	0.14661	0.345	0.80722	D	1	B;D;D	0.71674	0.11;0.991;0.998	B;P;D	0.80764	0.031;0.687;0.994	T	0.50127	-0.8864	10	0.26408	T	0.33	.	9.4326	0.38620	0.8416:0.0:0.0:0.1584	.	278;278;278	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	Y	278	ENSP00000281171:N278Y;ENSP00000343434:N278Y	ENSP00000281171:N278Y	N	+	1	0	PTPRO	15545991	0.991000	0.36638	0.997000	0.53966	0.596000	0.36781	3.498000	0.53302	1.888000	0.54679	0.529000	0.55759	AAC	-	NULL		0.423	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	protein_coding	OTTHUMT00000401079.1	A		-		15654724	1	no_errors	ENST00000281171	ensembl	human	known	74_37	missense	SNP	0.958	T	T	15654724	A	T	15654724	3	4	98	1	0	0	0	0	1	0	0	0	12817	130	5	5	850	5	PTPRO	12	15654724	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	8906548	15654724	118197171	75	5662											
OR6C75	390323	genome.wustl.edu	37	chr12	55759380	55759380	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagtaatgcttctgctGcagttggatttctgtgcctc	9	12	2	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:55759380G>T	ENST00000343399.3	+	1	486	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGCTTCTGCTGCAGTTGGATT	0.433																																																	0								ENSG00000187857						168	139	149					12																	55759380		2203	4300	6503	OR6C75	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.486G>T	12.37:g.55759380G>T		Somatic	0	21	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L162	ENST00000343399.3	37	c.486	CCDS31820.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	protein_coding	OTTHUMT00000406418.1	G		-		55759380	1	no_errors	ENST00000343399	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55759380	G	T	55759380	2	4	98	1	0	0	0	0	0	0	0	1	11201	1306	46	3		3	OR6C75	12	55759380	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	40104656	55759380	78092515	76	5663											
IL23A	51561	genome.wustl.edu	37	chr12	56732989	56732989	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatccactagtgggacacaTggtgagtggcagcccctgga	13	11	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:56732989T>A	ENST00000228534.4	+	1	327	c.161T>A	c.(160-162)aTg>aAg	p.M54K	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	54					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GTGGGACACATGGTGAGTGGC	0.607																																																	0								ENSG00000110944						32	30	31					12																	56732989		2203	4300	6503	IL23A	SO:0001630	splice_region_variant	0			-	HGNC	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"Interleukins and interleukin receptors"	15488	protein-coding gene	gene with protein product	"interleukin-six, G-CSF related factor"	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.162+1T>A	12.37:g.56732989T>A		Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP							pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core	p.M54K	ENST00000228534.4	37	c.161	CCDS8916.1	12	.	.	.	.	.	.	.	.	.	.	T	11.71	1.718506	0.30503	.	.	ENSG00000110944	ENST00000228534	.	.	.	5.11	2.77	0.32553	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.699917	0.13289	N	0.399122	T	0.29524	0.0736	L	0.38175	1.15	0.29857	N	0.827972	B	0.32731	0.382	B	0.27608	0.081	T	0.23013	-1.0200	9	0.66056	D	0.02	-0.0764	6.7901	0.23695	0.0:0.2701:0.0:0.7299	.	54	Q9NPF7	IL23A_HUMAN	K	54	.	ENSP00000228534:M54K	M	+	2	0	IL23A	55019256	0.639000	0.27234	0.548000	0.28192	0.930000	0.56654	0.651000	0.24873	0.392000	0.25172	-0.256000	0.11100	ATG	-	superfamily_4_helix_cytokine-like_core		0.607	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	protein_coding		T	NM_016584	-	Missense_Mutation	56732989	1	no_errors	ENST00000228534	ensembl	human	known	74_37	missense	SNP	0.542	A	A	56732989	T	A	56732989	5	1	98	1	0	0	0	0	0	0	1	0	7677	1478	51	5	163	5	IL23A	12	56732989	Splice_Site	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	973609	56732989	77118906	77	5664											
MARCH9	92979	genome.wustl.edu	37	chr12	58152549	58152549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccccccagctgcccagCgcatgcggacgctcttgcct	11	20	1	0	rs372403968		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:58152549C>T	ENST00000266643.5	+	4	1341	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	MARCH9_ENST00000548358.1_Missense_Mutation_p.R191C	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	304					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGCTGCCCAGCGCATGCGGAC	0.682																																																	0								ENSG00000139266	C	CYS/ARG	0,4406		0,0,2203	22	23	22		910	5.6	1	12		22	1,8597	1.2+/-3.3	0,1,4298	no	missense	MARCH9	NM_138396.5	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	304/347	58152549	1,13003	2203	4299	6502	MARCH9	SO:0001583	missense	0			-	HGNC	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.910C>T	12.37:g.58152549C>T	ENSP00000266643:p.Arg304Cys	Somatic	0	20	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R304C	ENST00000266643.5	37	c.910	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725652	0.68959	0.0	1.16E-4	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.32988	2.42;1.43	5.56	5.56	0.83823	.	0.177293	0.37304	N	0.002150	T	0.48840	0.1522	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.69142	0.962;0.613	T	0.33954	-0.9848	10	0.54805	T	0.06	.	18.4399	0.90662	0.0:1.0:0.0:0.0	.	191;304	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	C	304;191	ENSP00000266643:R304C;ENSP00000446758:R191C	ENSP00000266643:R304C	R	+	1	0	MARCH9	56438816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.514000	0.35834	2.890000	0.99128	0.655000	0.94253	CGC	-	NULL		0.682	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	protein_coding	OTTHUMT00000409244.1	C	NM_138396	-		58152549	1	no_errors	ENST00000266643	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58152549	C	T	58152549	3	4	98	1	0	0	0	0	1	0	0	0	9310	768	27	1	924	1	MARCH9	12	58152549	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	1419560	58152549	75699346	78	5665											
CLLU1	574028	genome.wustl.edu	37	chr12	92818639	92818639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaacagaatacgatttagCaaattacttcttaagatatt	4	6	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr12:92818639C>A	ENST00000378485.1	+	1	905	c.183C>A	c.(181-183)agC>agA	p.S61R	CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000378487.2_Intron|CLLU1OS_ENST00000538965.1_Intron|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025233.1	NP_001020404.1	Q5K131	CLLU1_HUMAN	chronic lymphocytic leukemia up-regulated 1	61						cytoplasm (GO:0005737)				NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TACGATTTAGCAAATTACTTC	0.289																																																	0								ENSG00000257127						41	39	40					12																	92818639		1800	4053	5853	CLLU1	SO:0001583	missense	0			-	HGNC	AJ845162		12q22	2012-04-19			ENSG00000257127	ENSG00000257127			29841	protein-coding gene	gene with protein product						19726446	Standard	NR_027932		Approved		uc001tcg.1	Q5K131	OTTHUMG00000170103	ENST00000378485.1:c.183C>A	12.37:g.92818639C>A	ENSP00000367746:p.Ser61Arg	Somatic	0	74	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	13.16		Missense_Mutation	SNP							NULL	p.S61R	ENST00000378485.1	37	c.183		12	.	.	.	.	.	.	.	.	.	.	C	2.082	-0.410437	0.04799	.	.	ENSG00000257127	ENST00000378485	T	0.54479	0.57	2.01	-0.117	0.13551	.	.	.	.	.	T	0.29223	0.0727	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.25047	-1.0143	7	0.87932	D	0	.	3.8866	0.09100	0.292:0.4526:0.2553:0.0	.	.	.	.	R	61	ENSP00000367746:S61R	ENSP00000367746:S61R	S	+	3	2	AC063949.1	91342770	0.012000	0.17670	0.047000	0.18901	0.012000	0.07955	-0.699000	0.05087	-0.041000	0.13558	-0.162000	0.13425	AGC	-	NULL		0.289	CLLU1-003	KNOWN	NMD_exception|basic|appris_principal	protein_coding	CLLU1	protein_coding	OTTHUMT00000366643.1	C	NM_001025233	-		92818639	1	no_errors	ENST00000378485	ensembl	human	known	74_37	missense	SNP	0.072	A	A	92818639	C	A	92818639	3	1	98	1	0	0	0	0	1	0	0	0	3542	709	25	3	185	3	CLLU1	12	92818639	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	34666090	92818639	41033256	79	5666											
PCDH8	5100	genome.wustl.edu	37	chr13	53421442	53421444	+	In_Frame_Del	DEL	GCG	GCG	-													cgtccgctcccccgagtgcaGcggcggcggcggcagcggcg							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	GCG	GCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr13:53421442_53421444delGCG	ENST00000377942.3	-	1	1331_1333	c.1128_1130delCGC	c.(1126-1131)gccgct>gct	p.376_377AA>A	PCDH8_ENST00000338862.4_In_Frame_Del_p.376_377AA>A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	376					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCGAGTGCAGCGGCGGCGGCGG	0.759																																					GBM(36;25 841 9273 49207)												0								ENSG00000136099		,	13,1651		1,11,820					,	-7.9	0.3			4	27,3629		1,25,1802	no	coding,coding	PCDH8	NM_032949.2,NM_002590.3	,	2,36,2622	A1A1,A1R,RR		0.7385,0.7812,0.7519	,	,		40,5280				PCDH8	SO:0001651	inframe_deletion	0				HGNC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1128_1130delCGC	13.37:g.53421451_53421453delGCG	ENSP00000367177:p.Ala378del	Somatic	0	8	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	In_Frame_Del	DEL							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A378in_frame_del	ENST00000377942.3	37	c.1130_1128	CCDS9438.1	13																																																																																			-	NULL		0.759	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	protein_coding	OTTHUMT00000045108.2	GCG	NM_002590			53421444	-1	no_errors	ENST00000377942	ensembl	human	known	74_37	in_frame_del	DEL	0.903:0.923:0.916	-	-	53421444	GCG	-	53421442	7	5	98	1	0	1	0	1	0	0	0	0	11519	971	34	0	2094	0	PCDH8	13	53421442	In_Frame_Del	DEL	GCG	TCGA-DX-A8BL-01A-11D-A417-09		53421442	61748436	80	5667											
CLYBL	171425	genome.wustl.edu	37	chr13	100518604	100518604	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctggtgtacattgactttCgagatggagctgggctgctt	13	7	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr13:100518604C>T	ENST00000376360.1	+	6	772	c.745C>T	c.(745-747)Cga>Tga	p.R249*	CLYBL_ENST00000339105.4_Nonsense_Mutation_p.R249*|CLYBL_ENST00000376355.3_Nonsense_Mutation_p.R215*|CLYBL_ENST00000444838.2_Nonsense_Mutation_p.R215*|CLYBL_ENST00000376354.1_Nonsense_Mutation_p.R215*			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	249						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTGACTTTCGAGATGGAGC	0.468																																																	0								ENSG00000125246						94	92	93					13																	100518604		2203	4300	6503	CLYBL	SO:0001587	stop_gained	0			-	HGNC	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.745C>T	13.37:g.100518604C>T	ENSP00000365538:p.Arg249*	Somatic	0	93	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	28	62.16	Q5W0F7|Q8TDH8	Nonsense_Mutation	SNP							pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta	p.R249*	ENST00000376360.1	37	c.745	CCDS32002.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.850090	0.97023	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000419700	.	.	.	5.66	3.86	0.44501	.	0.332005	0.34223	N	0.004156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-20.5317	10.6039	0.45384	0.2692:0.601:0.1298:0.0	.	.	.	.	X	215;249;215;215;249;12	.	ENSP00000342991:R249X	R	+	1	2	CLYBL	99316605	0.981000	0.34729	0.111000	0.21465	0.685000	0.39939	2.834000	0.48167	0.781000	0.33589	-0.291000	0.09656	CGA	-	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta		0.468	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLYBL	protein_coding	OTTHUMT00000045611.1	C		-		100518604	1	no_errors	ENST00000339105	ensembl	human	known	74_37	nonsense	SNP	0.387	T	T	100518604	C	T	100518604	4	4	98	1	0	0	0	0	0	1	0	0	3575	876	31	1	767	1	CLYBL	13	100518604	Nonsense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	47097162	100518604	14651274	81	5668											
CHD8	57680	genome.wustl.edu	37	chr14	21894403	21894403	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactacaggagtgatggtgcTaaaaaggaaaaaccaaattc	9	7	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr14:21894403T>G	ENST00000557364.1	-	5	1865		c.e5-2		CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000399982.2_Splice_Site			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGATGGTGCTAAAAAGGAAA	0.358																																																	0								ENSG00000100888						75	63	66					14																	21894403		1837	4092	5929	CHD8	SO:0001630	splice_region_variant	0			-	HGNC	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1602-2A>C	14.37:g.21894403T>G		Somatic	0	18	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP							-	e4-2	ENST00000557364.1	37	c.1602-2	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993817	0.74703	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7386	0.69437	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20964243	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	5.676000	0.68131	2.122000	0.65172	0.482000	0.46254	.	-	-		0.358	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	protein_coding	OTTHUMT00000410436.1	T	NM_020920	-	Intron	21894403	-1	no_errors	ENST00000399982	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	21894403	T	G	21894403	5	3	98	1	0	0	0	0	0	0	1	0	3333	1536	53	5	6281	5	CHD8	14	21894403	Splice_Site	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09		21894403	85455137	82	5669											
C14orf68	283600	genome.wustl.edu	37	chr14	100795157	100795157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctttcggcctcggggcCgttggctgtgccccccatgt	15	15	0	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr14:100795157C>T	ENST00000361529.3	+	5	500	c.422C>T	c.(421-423)cCg>cTg	p.P141L	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	141					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCCTCGGGGCCGTTGGCTGTG	0.692																																					GBM(11;1289 1351)												0								ENSG00000140107						19	20	20					14																	100795157		2192	4278	6470	SLC25A47	SO:0001583	missense	0			-	HGNC		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.422C>T	14.37:g.100795157C>T	ENSP00000354886:p.Pro141Leu	Somatic	0	40	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P141L	ENST00000361529.3	37	c.422	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	C	6.018	0.371752	0.11409	.	.	ENSG00000140107	ENST00000361529	D	0.81499	-1.5	4.89	2.94	0.34122	Mitochondrial carrier domain (2);	0.198653	0.24896	N	0.034731	T	0.63663	0.2530	N	0.19112	0.55	0.37755	D	0.926105	B	0.31879	0.344	B	0.28991	0.097	T	0.61549	-0.7040	10	0.30854	T	0.27	0.0221	8.5587	0.33498	0.2573:0.6681:0.0:0.0746	.	141	Q6Q0C1	S2547_HUMAN	L	141	ENSP00000354886:P141L	ENSP00000354886:P141L	P	+	2	0	SLC25A47	99864910	0.000000	0.05858	0.023000	0.16930	0.024000	0.10985	0.250000	0.18235	1.065000	0.40693	-0.333000	0.08304	CCG	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.692	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	protein_coding	OTTHUMT00000414231.1	C		-		100795157	1	no_errors	ENST00000361529	ensembl	human	known	74_37	missense	SNP	0.006	T	T	100795157	C	T	100795157	3	4	98	1	0	0	0	0	1	0	0	0	1780	652	23	1	440	1	C14orf68	14	100795157	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	78900754	100795157	6554383	83	5670											
RAB27A	5873	genome.wustl.edu	37	chr15	55497751	55497751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcacttaactgatccGtagaggcatgaccatttgat	7	9	2	4	rs151048993		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr15:55497751G>A	ENST00000396307.2	-	6	871	c.620C>T	c.(619-621)aCg>aTg	p.T207M	RAB27A_ENST00000564609.1_Missense_Mutation_p.T207M|RAB27A_ENST00000569493.1_Missense_Mutation_p.T207M|RAB27A_ENST00000336787.1_Missense_Mutation_p.T207M	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	207					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TAACTGATCCGTAGAGGCATG	0.483																																																	0								ENSG00000069974	G	MET/THR,MET/THR,MET/THR,MET/THR	0,4386		0,0,2193	351	302	318		620,620,620,620	1	0	15	dbSNP_134	318	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense,missense,missense	RAB27A	NM_004580.4,NM_183234.2,NM_183235.2,NM_183236.2	81,81,81,81	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	207/222,207/222,207/222,207/222	55497751	1,12969	2193	4292	6485	RAB27A	SO:0001583	missense	0			-	HGNC	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.620C>T	15.37:g.55497751G>A	ENSP00000379601:p.Thr207Met	Somatic	0	41	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T207M	ENST00000396307.2	37	c.620	CCDS10153.1	15	.	.	.	.	.	.	.	.	.	.	G	9.745	1.166027	0.21538	0.0	1.16E-4	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.69306	-0.39;-0.39	4.96	0.985	0.19779	.	1.552830	0.03580	N	0.230030	T	0.49389	0.1554	N	0.08118	0	0.09310	N	1	B	0.28439	0.212	B	0.28784	0.094	T	0.44390	-0.9331	10	0.44086	T	0.13	-21.5822	10.014	0.42003	0.1153:0.0:0.7662:0.1184	.	207	P51159	RB27A_HUMAN	M	207;199;207	ENSP00000379601:T207M;ENSP00000337761:T207M	ENSP00000337761:T207M	T	-	2	0	RAB27A	53285043	0.057000	0.20700	0.000000	0.03702	0.003000	0.03518	2.371000	0.44248	0.032000	0.15435	-1.916000	0.00518	ACG	-	superfamily_P-loop_NTPase,smart_Ran_GTPase		0.483	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	protein_coding	OTTHUMT00000254918.1	G	NM_004580, NM_183236	rs151048993		55497751	-1	no_errors	ENST00000336787	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55497751	G	A	55497751	3	1	98	1	0	0	0	0	1	0	0	0	12922	1145	40	1	49	1	RAB27A	15	55497751	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		55497751	47033641	84	5671											
CLN6	54982	genome.wustl.edu	37	chr15	68502076	68502076	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgctgaagtacatgaagagGatgaggaagaaggggatgta	16	4	0	5	rs371326037		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr15:68502076G>T	ENST00000249806.5	-	6	721	c.564C>A	c.(562-564)atC>atA	p.I188I	CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000565471.1_Silent_p.I35I|CLN6_ENST00000566347.1_Silent_p.I125I|CLN6_ENST00000538696.1_Silent_p.I220I|CLN6_ENST00000564752.1_Missense_Mutation_p.S197Y	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	188					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ACATGAAGAGGATGAGGAAGA	0.577																																																	0								ENSG00000128973	G		1,4399	2.1+/-5.4	0,1,2199	117	115	116		564	4.1	1	15		116	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CLN6	NM_017882.2		0,2,6496	TT,TG,GG		0.0116,0.0227,0.0154		188/312	68502076	2,12994	2200	4298	6498	CLN6	SO:0001819	synonymous_variant	0			-	HGNC	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.564C>A	15.37:g.68502076G>T		Somatic	0	34	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.00	A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP							NULL	p.S197Y	ENST00000249806.5	37	c.590	CCDS10227.1	15																																																																																			-	NULL		0.577	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	protein_coding	OTTHUMT00000257066.1	G	NM_017882	-		68502076	-1	no_errors	ENST00000564752	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	68502076	G	T	68502076	2	4	98	1	0	0	0	0	0	0	0	1	3547	1164	41	3		3	CLN6	15	68502076	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	13004325	68502076	34029316	85	5672											
SV2B	9899	genome.wustl.edu	37	chr15	91811708	91811708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggtttcctgatatgatcCgctattttcaagatgaagaa	8	6	1	5	rs148600928		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr15:91811708C>A	ENST00000394232.1	+	9	1716	c.1246C>A	c.(1246-1248)Cgc>Agc	p.R416S	SV2B_ENST00000330276.4_Missense_Mutation_p.R416S|SV2B_ENST00000545111.2_Missense_Mutation_p.R265S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	416					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGATATGATCCGCTATTTTCA	0.413																																																	0								ENSG00000185518						197	181	186					15																	91811708		2198	4298	6496	SV2B	SO:0001583	missense	0			-	HGNC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1246C>A	15.37:g.91811708C>A	ENSP00000377779:p.Arg416Ser	Somatic	0	45	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.R416S	ENST00000394232.1	37	c.1246	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051279	0.55218	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.58358	0.34;0.34;0.34	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107181	0.64402	D	0.000005	T	0.46229	0.1382	L	0.39898	1.24	0.54753	D	0.999981	B	0.30211	0.273	B	0.30716	0.119	T	0.30765	-0.9967	10	0.19147	T	0.46	-26.1139	18.3075	0.90188	0.0:1.0:0.0:0.0	.	416	Q7L1I2	SV2B_HUMAN	S	265;416;416	ENSP00000443243:R265S;ENSP00000377779:R416S;ENSP00000332818:R416S	ENSP00000332818:R416S	R	+	1	0	SV2B	89612712	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	4.935000	0.63498	2.739000	0.93911	0.655000	0.94253	CGC	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.413	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	protein_coding	OTTHUMT00000313494.3	C	NM_014848	-		91811708	1	no_errors	ENST00000330276	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91811708	C	A	91811708	3	1	98	1	0	0	0	0	1	0	0	0	15425	652	23	3	1276	3	SV2B	15	91811708	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	23309632	91811708	10719684	86	5673											
ZNF768	79724	genome.wustl.edu	37	chr16	30536059	30536059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggatgagagtggaggagcGattgaaggtcttgccgcagt	17	6	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr16:30536059G>A	ENST00000380412.5	-	2	1577	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ZNF768_ENST00000562803.1_Missense_Mutation_p.R437C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	468					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTGGAGGAGCGATTGAAGGTC	0.687																																																	0								ENSG00000169957						36	31	33					16																	30536059		2196	4298	6494	ZNF768	SO:0001583	missense	0			-	HGNC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1402C>T	16.37:g.30536059G>A	ENSP00000369777:p.Arg468Cys	Somatic	0	62	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	72	27.72	Q569L7|Q96CX4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R468C	ENST00000380412.5	37	c.1402	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328715	0.60743	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.07567	3.18	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001579	T	0.20129	0.0484	L	0.41906	1.305	0.42872	D	0.994145	D	0.89917	1.0	D	0.81914	0.995	T	0.00503	-1.1701	10	0.48119	T	0.1	-14.9663	14.689	0.69070	0.0:0.0:1.0:0.0	.	468	Q9H5H4	ZN768_HUMAN	C	468;381	ENSP00000369777:R468C	ENSP00000369777:R468C	R	-	1	0	ZNF768	30443560	0.047000	0.20315	0.999000	0.59377	0.978000	0.69477	2.391000	0.44424	2.470000	0.83445	0.436000	0.28706	CGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.687	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	protein_coding	OTTHUMT00000255522.2	G	NM_024671	-		30536059	-1	no_errors	ENST00000380412	ensembl	human	known	74_37	missense	SNP	0.955	A	A	30536059	G	A	30536059	3	1	98	1	0	0	0	0	1	0	0	0	18148	1058	37	1	224	1	ZNF768	16	30536059	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		30536059	59818694	87	5674											
TP53	7157	genome.wustl.edu	37	chr17	7577129	7577131	+	In_Frame_Del	DEL	AAG	AAG	-													aggcacaaacacgcacctcaAagctgttccgtcccagtaga							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr17:7577129_7577131delAAG	ENST00000269305.4	-	8	996_998	c.807_809delCTT	c.(805-810)agcttt>agt	p.F270del	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_In_Frame_Del_p.F270del|TP53_ENST00000445888.2_In_Frame_Del_p.F270del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Del_p.F270del|TP53_ENST00000359597.4_In_Frame_Del_p.F270del	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270L(15)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.S269_F270>I(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.F270_D281del12(1)|p.G262_S269delGNLLGRNS(1)|p.S269fs*3(1)|p.S269R(1)|p.S269fs*34(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)	ACGCACCTCAAAGCTGTTCCGTC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	86	Substitution - Missense(56)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(5)|Substitution - coding silent(3)|Unknown(2)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	oesophagus(13)|breast(12)|large_intestine(10)|stomach(8)|upper_aerodigestive_tract(7)|lung(7)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|urinary_tract(4)|bone(4)|ovary(3)|testis(1)|soft_tissue(1)|biliary_tract(1)|liver(1)|salivary_gland(1)|eye(1)|prostate(1)|pancreas(1)						ENSG00000141510																																			TP53	SO:0001651	inframe_deletion	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;		HGNC	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.807_809delCTT	17.37:g.7577129_7577131delAAG	ENSP00000269305:p.Phe270del	Somatic	0	12	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00	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	In_Frame_Del	DEL							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F270in_frame_del	ENST00000269305.4	37	c.809_807	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	AAG	NM_000546			7577131	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	7577131	AAG	-	7577129	7	5	98	1	0	1	0	1	0	0	0	0	16388	14	1	0	477	0	TP53	17	7577129	In_Frame_Del	DEL	AAG	TCGA-DX-A8BL-01A-11D-A417-09		7577129	73618081	88	5675											
TMEM107	84314	genome.wustl.edu	37	chr17	8079568	8079568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcgccaggagcgtcaGgaagcgagagggcacaagcc	16	11	1	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr17:8079568G>T	ENST00000437139.2	-	1	124	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	TMEM107_ENST00000532998.1_Missense_Mutation_p.L13M|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000533070.1_Missense_Mutation_p.L13M|TMEM107_ENST00000316425.5_Missense_Mutation_p.L13M|TMEM107_ENST00000431792.2_Missense_Mutation_p.L13M|TMEM107_ENST00000449985.2_Missense_Mutation_p.L13M|SNORD118_ENST00000363593.1_RNA	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	13					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						AGGAGCGTCAGGAAGCGAGAG	0.622																																																	0								ENSG00000179029						64	53	57					17																	8079568		2203	4300	6503	TMEM107	SO:0001583	missense	0			-	HGNC	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.37C>A	17.37:g.8079568G>T	ENSP00000402732:p.Leu13Met	Somatic	0	36	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP							NULL	p.L13M	ENST00000437139.2	37	c.37	CCDS45607.1	17	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212167	0.58452	.	.	ENSG00000179029	ENST00000449985;ENST00000532998;ENST00000437139;ENST00000533070;ENST00000316425;ENST00000431792;ENST00000415860	.	.	.	5.6	1.43	0.22495	.	0.000000	0.64402	D	0.000012	T	0.64382	0.2593	M	0.69248	2.105	0.34131	D	0.665278	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.997;0.976	T	0.68522	-0.5386	9	0.44086	T	0.13	-18.6514	7.7472	0.28875	0.3293:0.0:0.6707:0.0	.	13;13;13;13	B3KNL7;Q6UX40-3;Q6UX40-4;Q6UX40	.;.;.;TM107_HUMAN	M	13	.	ENSP00000314116:L13M	L	-	1	2	TMEM107	8020293	1.000000	0.71417	0.995000	0.50966	0.493000	0.33554	1.496000	0.35638	0.129000	0.18514	0.637000	0.83480	CTG	-	NULL		0.622	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM107	protein_coding	OTTHUMT00000388844.1	G	NM_032354	-		8079568	-1	no_errors	ENST00000316425	ensembl	human	known	74_37	missense	SNP	0.998	T	T	8079568	G	T	8079568	3	4	98	1	0	0	0	0	1	0	0	0	16030	991	35	3	423	3	TMEM107	17	8079568	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	502439	8079568	73115642	89	5676											
MYH10	4628	genome.wustl.edu	37	chr17	8380278	8380278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttcccgctggagtttaCgccgagatgcgttggcacgc	13	13	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr17:8380278C>T	ENST00000269243.4	-	40	5840	c.5702G>A	c.(5701-5703)cGt>cAt	p.R1901H	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Missense_Mutation_p.R1932H|MYH10_ENST00000396239.1_Missense_Mutation_p.R1922H|MYH10_ENST00000379980.4_Missense_Mutation_p.R1917H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1901					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGGAGTTTACGCCGAGATGC	0.617																																																	0								ENSG00000133026						86	70	75					17																	8380278		2203	4300	6503	MYH10	SO:0001583	missense	0			-	HGNC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5702G>A	17.37:g.8380278C>T	ENSP00000269243:p.Arg1901His	Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.00	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1922H	ENST00000269243.4	37	c.5765	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.594773	0.96602	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.99;0.994	D	0.96059	0.9037	10	0.87932	D	0	.	18.3182	0.90229	0.0:1.0:0.0:0.0	.	1910;1932;1901	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	1901;1932;1922;1917	ENSP00000269243:R1901H;ENSP00000353590:R1932H;ENSP00000379539:R1922H;ENSP00000369315:R1917H	ENSP00000269243:R1901H	R	-	2	0	MYH10	8321003	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.606000	0.82863	2.712000	0.92718	0.655000	0.94253	CGT	-	pfam_Myosin_tail		0.617	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	protein_coding	OTTHUMT00000227001.2	C		-		8380278	-1	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8380278	C	T	8380278	3	4	98	1	0	0	0	0	1	0	0	0	10032	536	19	1	236	1	MYH10	17	8380278	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	300710	8380278	72814932	90	5677											
RAI1	10743	genome.wustl.edu	37	chr17	17699410	17699410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccaggccggggggcctcgGaagggctccccaggatgtgt	17	14	0	0	rs35310427		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr17:17699410G>A	ENST00000353383.1	+	3	3617	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	RAI1_ENST00000261641.6_Missense_Mutation_p.E1050K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1050					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGGGCCTCGGAAGGGCTCCC	0.692																																																	0								ENSG00000108557						5	6	6					17																	17699410		2096	4146	6242	RAI1	SO:0001583	missense	0			-	HGNC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3148G>A	17.37:g.17699410G>A	ENSP00000323074:p.Glu1050Lys	Somatic	0	33	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	56	11.11	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP							smart_Znf_PHD	p.E1050K	ENST00000353383.1	37	c.3148	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654952	0.29425	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69926	-0.44;0.15	4.15	4.15	0.48705	.	0.097043	0.42821	D	0.000658	T	0.62732	0.2452	L	0.51422	1.61	0.35737	D	0.8184	B	0.18461	0.028	B	0.18871	0.023	T	0.69829	-0.5039	10	0.59425	D	0.04	.	16.4122	0.83722	0.0:0.0:1.0:0.0	.	1050	Q7Z5J4	RAI1_HUMAN	K	1050;1050;1050;1002	ENSP00000323074:E1050K;ENSP00000261641:E1050K	ENSP00000261641:E1050K	E	+	1	0	RAI1	17640135	0.994000	0.37717	0.973000	0.42090	0.166000	0.22503	0.851000	0.27751	1.867000	0.54127	0.491000	0.48974	GAA	-	NULL		0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	protein_coding	OTTHUMT00000131775.1	G	NM_030665	-		17699410	1	no_errors	ENST00000353383	ensembl	human	known	74_37	missense	SNP	0.969	A	A	17699410	G	A	17699410	3	1	98	1	0	0	0	0	1	0	0	0	13015	1175	41	2	3150	2	RAI1	17	17699410	Missense_Mutation	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	9319132	17699410	63495800	91	5678											
AKAP1	8165	genome.wustl.edu	37	chr17	55189859	55189859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccgctatttaggctctcaAcatcatgtagacaaagcgct	7	11	2	1	rs562043469		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr17:55189859A>G	ENST00000337714.3	+	5	2216	c.1983A>G	c.(1981-1983)caA>caG	p.Q661Q	AKAP1_ENST00000571629.1_Silent_p.Q661Q|AKAP1_ENST00000572557.1_Silent_p.Q661Q|AKAP1_ENST00000539273.1_Silent_p.Q661Q	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	661	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TAGGCTCTCAACATCATGTAG	0.493																																																	0								ENSG00000121057						106	81	89					17																	55189859		2203	4300	6503	AKAP1	SO:0001819	synonymous_variant	0			-	HGNC	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1983A>G	17.37:g.55189859A>G		Somatic	0	49	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP							pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.Q661	ENST00000337714.3	37	c.1983	CCDS11594.1	17																																																																																			-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.493	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	protein_coding	OTTHUMT00000277069.1	A		-		55189859	1	no_errors	ENST00000337714	ensembl	human	known	74_37	silent	SNP	1.000	G	G	55189859	A	G	55189859	2	3	98	1	0	0	0	0	0	0	0	1	445	40	2	5		5	AKAP1	17	55189859	Silent	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	37490449	55189859	26005351	92	5679											
DSG4	147409	genome.wustl.edu	37	chr18	28993106	28993106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcagaagttgaattcCaagaagaaatggcagcatct	8	10	2	4			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr18:28993106C>T	ENST00000308128.4	+	16	2806	c.2671C>T	c.(2671-2673)Caa>Taa	p.Q891*	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Nonsense_Mutation_p.Q910*|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	891					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTTGAATTCCAAGAAGAAAT	0.433																																																	0								ENSG00000175065						131	125	127					18																	28993106		2203	4300	6503	DSG4	SO:0001587	stop_gained	0			-	HGNC	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2671C>T	18.37:g.28993106C>T	ENSP00000311859:p.Gln891*	Somatic	0	32	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	A2RUI1|Q6Y9L9|Q8IXV4	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.Q910*	ENST00000308128.4	37	c.2728	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.602530	0.98384	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.65	4.77	0.60923	.	0.000000	0.33382	N	0.004967	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.582	0.76452	0.1391:0.8609:0.0:0.0	.	.	.	.	X	891;910	.	ENSP00000311859:Q891X	Q	+	1	0	DSG4	27247104	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.155000	0.42301	1.357000	0.45904	0.655000	0.94253	CAA	-	NULL		0.433	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	protein_coding	OTTHUMT00000254941.1	C	NM_177986	-		28993106	1	no_errors	ENST00000359747	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	28993106	C	T	28993106	4	4	98	1	0	0	0	0	0	1	0	0	4781	595	21	2	2854	2	DSG4	18	28993106	Nonsense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09		28993106	49084142	93	5680											
SERPINB13	5275	genome.wustl.edu	37	chr18	61260203	61260203	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttgaaagcaaaacaaAtggtagagtatgggtgggtc	15	4	0	2	rs149477887		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr18:61260203A>T	ENST00000344731.5	+	5	572	c.470A>T	c.(469-471)aAt>aTt	p.N157I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.N157I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	157					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGCAAAACAAATGGTAGAGTA	0.363																																																	0								ENSG00000197641						94	104	100					18																	61260203		2202	4300	6502	SERPINB13	SO:0001583	missense	0			-	HGNC	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.470A>T	18.37:g.61260203A>T	ENSP00000341584:p.Asn157Ile	Somatic	0	57	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	57	12.31	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.N157I	ENST00000344731.5	37	c.470	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527055	0.85706	.	.	ENSG00000197641	ENST00000269489;ENST00000344731	T;D	0.84442	2.57;-1.85	5.63	5.63	0.86233	Serpin domain (3);	.	.	.	.	D	0.94032	0.8088	H	0.94306	3.52	0.38754	D	0.954177	D;P	0.63046	0.992;0.938	D;P	0.65010	0.931;0.565	D	0.96348	0.9256	8	.	.	.	.	15.3133	0.74053	1.0:0.0:0.0:0.0	.	166;157	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	I	157	ENSP00000269489:N157I;ENSP00000341584:N157I	.	N	+	2	0	SERPINB13	59411183	0.902000	0.30710	0.941000	0.38009	0.832000	0.47134	8.208000	0.89748	2.269000	0.75478	0.454000	0.30748	AAT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.363	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	protein_coding	OTTHUMT00000133798.1	A	NM_012397	-		61260203	1	no_errors	ENST00000344731	ensembl	human	known	74_37	missense	SNP	0.955	T	T	61260203	A	T	61260203	3	4	98	1	0	0	0	0	1	0	0	0	14108	101	4	5	484	5	SERPINB13	18	61260203	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	32267097	61260203	16817045	94	5681											
EMR1	2015	genome.wustl.edu	37	chr19	6890543	6890543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataagacccacacggaaacCaaacacaaagggtaagttgg	9	10	0	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:6890543C>A	ENST00000312053.4	+	2	120	c.83C>A	c.(82-84)cCa>cAa	p.P28Q	EMR1_ENST00000381407.5_Missense_Mutation_p.P28Q|EMR1_ENST00000250572.8_Missense_Mutation_p.P28Q|EMR1_ENST00000450315.3_Missense_Mutation_p.P28Q|EMR1_ENST00000381404.4_Missense_Mutation_p.P28Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	28					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACACGGAAACCAAACACAAAG	0.458																																																	0								ENSG00000174837						106	82	90					19																	6890543		2203	4300	6503	EMR1	SO:0001583	missense	0			-	HGNC	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.83C>A	19.37:g.6890543C>A	ENSP00000311545:p.Pro28Gln	Somatic	0	22	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.P28Q	ENST00000312053.4	37	c.83	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	C	3.096	-0.185837	0.06340	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78924	-1.19;-1.11;-1.22;0.08;0.38	2.02	2.02	0.26589	.	.	.	.	.	T	0.52581	0.1743	N	0.08118	0	0.09310	N	1	P;P;B;B;B	0.44578	0.838;0.617;0.0;0.001;0.0	B;B;B;B;B	0.39562	0.154;0.303;0.002;0.002;0.001	T	0.41770	-0.9490	9	0.11485	T	0.65	.	7.6069	0.28107	0.0:1.0:0.0:0.0	.	28;28;28;28;28	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Q	28	ENSP00000311545:P28Q;ENSP00000370811:P28Q;ENSP00000250572:P28Q;ENSP00000370814:P28Q;ENSP00000405974:P28Q	ENSP00000250572:P28Q	P	+	2	0	EMR1	6841543	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.191000	0.17076	1.437000	0.47472	0.655000	0.94253	CCA	-	NULL		0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	C		-		6890543	1	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	SNP	0.002	A	A	6890543	C	A	6890543	3	1	98	1	0	0	0	0	1	0	0	0	5106	594	21	3	89	3	EMR1	19	6890543	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09		6890543	52238440	95	5682											
FCER2	2208	genome.wustl.edu	37	chr19	7761923	7761923	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggacttgaagctgctcagatCtgcttgaagcccgttcaggt	12	10	3	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:7761923C>G	ENST00000346664.5	-	7	567	c.355G>C	c.(355-357)Gat>Cat	p.D119H	FCER2_ENST00000360067.4_Missense_Mutation_p.D118H|FCER2_ENST00000597921.1_Missense_Mutation_p.D119H	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	119					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CTGCTCAGATCTGCTTGAAGC	0.637																																																	0								ENSG00000104921						40	34	36					19																	7761923		2203	4300	6503	FCER2	SO:0001583	missense	0			-	HGNC	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.355G>C	19.37:g.7761923C>G	ENSP00000264072:p.Asp119His	Somatic	0	62	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	98	9.26		Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.D119H	ENST00000346664.5	37	c.355	CCDS12184.1	19	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349931	0.24426	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.21361	2.01;2.01	4.98	3.91	0.45181	.	0.000000	0.38326	N	0.001733	T	0.22126	0.0533	L	0.50333	1.59	0.09310	N	1	P;P	0.43633	0.559;0.813	B;B	0.42319	0.383;0.164	T	0.07252	-1.0782	10	0.54805	T	0.06	.	11.187	0.48662	0.0:0.8137:0.1863:0.0	.	118;119	P06734-2;P06734	.;FCER2_HUMAN	H	119;118	ENSP00000264072:D119H;ENSP00000353178:D118H	ENSP00000264072:D119H	D	-	1	0	FCER2	7667923	0.118000	0.22208	0.118000	0.21660	0.012000	0.07955	0.925000	0.28791	1.047000	0.40274	0.655000	0.94253	GAT	-	NULL		0.637	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCER2	protein_coding	OTTHUMT00000461832.1	C	NM_002002	-		7761923	-1	no_errors	ENST00000346664	ensembl	human	known	74_37	missense	SNP	0.057	G	G	7761923	C	G	7761923	3	3	98	1	0	0	0	0	1	0	0	0	5778	913	32	4	630	4	FCER2	19	7761923	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	871380	7761923	51367060	96	5683											
SYDE1	85360	genome.wustl.edu	37	chr19	15224613	15224618	+	In_Frame_Del	DEL	AGCGAG	AGCGAG	-													accacgtgacgggcagtgacAgcgaggacgaggacgaggag							TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	AGCGAG	AGCGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:15224613_15224618delAGCGAG	ENST00000342784.2	+	8	2078_2083	c.2047_2052delAGCGAG	c.(2047-2052)agcgagdel	p.SE683del	SYDE1_ENST00000600440.1_In_Frame_Del_p.SE616del|SYDE1_ENST00000600252.1_In_Frame_Del_p.SE340del	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	683					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGGCAGTGACAGCGAGGACGAGGACG	0.65																																																	0								ENSG00000105137																																			SYDE1	SO:0001651	inframe_deletion	0				HGNC	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2047_2052delAGCGAG	19.37:g.15224613_15224618delAGCGAG	ENSP00000341489:p.Ser683_Glu684del	Somatic					0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7L2I8|Q8N6J2|Q9H8K4	In_Frame_Del	DEL							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.SE683in_frame_del	ENST00000342784.2	37	c.2047_2052	CCDS12324.1	19																																																																																			-	NULL		0.65	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	protein_coding	OTTHUMT00000465666.1	AGCGAG	NM_033025			15224618	1	no_errors	ENST00000342784	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.990:1.000:1.000:1.000	-	-	15224618	AGCGAG	-	15224613	7	5	98	1	0	1	0	1	0	0	0	0	15442	188	7	0	2077	0	SYDE1	19	15224613	In_Frame_Del	DEL	AGCGAG	TCGA-DX-A8BL-01A-11D-A417-09	7462690	15224613	43904370	97	5684											
ZNF507	22847	genome.wustl.edu	37	chr19	32873817	32873817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atatagtttagaaaaaatctCcagtctggcccctcctagca	6	11	2	1	rs144208852		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:32873817C>G	ENST00000311921.4	+	6	2882	c.2690C>G	c.(2689-2691)tCc>tGc	p.S897C	ZNF507_ENST00000544431.1_Missense_Mutation_p.S901C|ZNF507_ENST00000355898.5_Missense_Mutation_p.S897C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	897					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.S897F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GAAAAAATCTCCAGTCTGGCC	0.428																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000168813						54	52	53					19																	32873817		2203	4300	6503	ZNF507	SO:0001583	missense	0			-	HGNC	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2690C>G	19.37:g.32873817C>G	ENSP00000312277:p.Ser897Cys	Somatic	0	35	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S897C	ENST00000311921.4	37	c.2690	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647787	0.47258	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06528	3.59;3.59;3.29	5.87	3.59	0.41128	.	0.458171	0.27513	N	0.019038	T	0.06280	0.0162	L	0.35723	1.085	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.25152	-1.0140	10	0.49607	T	0.09	-2.8264	10.9469	0.47306	0.133:0.5949:0.2722:0.0	.	897	Q8TCN5	ZN507_HUMAN	C	897;897;901	ENSP00000348162:S897C;ENSP00000312277:S897C;ENSP00000441549:S901C	ENSP00000312277:S897C	S	+	2	0	ZNF507	37565657	0.044000	0.20184	0.472000	0.27241	0.992000	0.81027	0.615000	0.24329	1.452000	0.47756	0.655000	0.94253	TCC	-	NULL		0.428	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	protein_coding	OTTHUMT00000450301.3	C	NM_014910	-		32873817	1	no_errors	ENST00000311921	ensembl	human	known	74_37	missense	SNP	0.022	G	G	32873817	C	G	32873817	3	3	98	1	0	0	0	0	1	0	0	0	17960	855	30	4	2708	4	ZNF507	19	32873817	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	17649204	32873817	26255166	98	5685											
HAUS5	23354	genome.wustl.edu	37	chr19	36109312	36109312	+	Frame_Shift_Del	DEL	C	C	-													cccccaccccagaccccaggCcccggaccagtcagactcca					rs2285412	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:36109312delC	ENST00000203166.5	+	11	855	c.830delC	c.(829-831)gccfs	p.A277fs	HAUS5_ENST00000379045.2_Intron	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	277			A -> D (in dbSNP:rs2285412).		centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGACCCCAGGCCCCGGACCAG	0.642																																																	0								ENSG00000249115						26	25	25					19																	36109312		1864	4055	5919	HAUS5	SO:0001589	frameshift_variant	0				HGNC	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.830delC	19.37:g.36109312delC	ENSP00000439056:p.Ala277fs	Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Frame_Shift_Del	DEL							NULL	p.P278fs	ENST00000203166.5	37	c.830	CCDS42550.1	19																																																																																			-	NULL		0.642	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	protein_coding	OTTHUMT00000459055.2	C				36109312	1	no_errors	ENST00000203166	ensembl	human	known	74_37	frame_shift_del	DEL	0.611	-	-	36109312	C	-	36109312	7	5	98	1	0	1	0	1	0	0	0	0	6971	739	26	0	872	0	HAUS5	19	36109312	Frame_Shift_Del	DEL	C	TCGA-DX-A8BL-01A-11D-A417-09	3235495	36109312	23019671	99	5686											
ZNF225	7768	genome.wustl.edu	37	chr19	44636550	44636550	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactccatggtgatgaaaagCcattcaaatgtgaagagtgt	11	6	1	4			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:44636550C>G	ENST00000262894.6	+	5	2063	c.1783C>G	c.(1783-1785)Cca>Gca	p.P595A	ZNF225_ENST00000590612.1_Missense_Mutation_p.P595A|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	595					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGATGAAAAGCCATTCAAATG	0.428																																																	0								ENSG00000256294						57	61	60					19																	44636550		2194	4292	6486	ZNF225	SO:0001583	missense	0			-	HGNC	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1783C>G	19.37:g.44636550C>G	ENSP00000262894:p.Pro595Ala	Somatic	0	54	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	155	8.82	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P595A	ENST00000262894.6	37	c.1783	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587533	0.66105	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.16457	2.34	2.65	2.65	0.31530	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23054	0.0557	M	0.85197	2.74	0.30818	N	0.738064	P	0.51240	0.943	B	0.37047	0.24	T	0.45659	-0.9246	9	0.72032	D	0.01	.	12.4313	0.55575	0.0:1.0:0.0:0.0	.	595	Q9UK10	ZN225_HUMAN	A	595;559	ENSP00000262894:P595A	ENSP00000262894:P595A	P	+	1	0	ZNF225	49328390	0.076000	0.21285	0.005000	0.12908	0.253000	0.25986	3.229000	0.51278	1.462000	0.47948	0.561000	0.74099	CCA	-	pfscan_Znf_C2H2		0.428	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	protein_coding	OTTHUMT00000460581.1	C		-		44636550	1	no_errors	ENST00000262894	ensembl	human	known	74_37	missense	SNP	0.999	G	G	44636550	C	G	44636550	3	3	98	1	0	0	0	0	1	0	0	0	17786	739	26	4	1797	4	ZNF225	19	44636550	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	8527238	44636550	14492433	100	5687											
CEACAM20	125931	genome.wustl.edu	37	chr19	45029236	45029236	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttggcattgagggtgaGctgggctgcagctggaggac	20	6	0	2			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:45029236G>A	ENST00000454753.1	-	0	372							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGAGGGTGAGCTGGGCTGCA	0.587																																																	0								ENSG00000176395						109	117	114					19																	45029236		2100	4224	6324	CEACAM20			0			-	HGNC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029236G>A		Somatic	0	16	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	32	42.86		RNA	SNP							-	NULL	ENST00000454753.1	37	NULL		19																																																																																			-	-		0.587	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	processed_transcript	OTTHUMT00000323032.1	G	NM_198444	-		45029236	-1	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	SNP	0.003	A	A	45029236	G	A	45029236	1	1	98	0	1	0	0	0	0	0	0	0	3193	971	34	2		2	CEACAM20	19	45029236	RNA	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	392686	45029236	14099747	101	5688											
KLC3	147700	genome.wustl.edu	37	chr19	45853898	45853898	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcatccccggcccctccccaGgcccttcgccgcagcagctc	9	23	0	0			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr19:45853898G>C	ENST00000391946.2	+	11	1374		c.e11-1		ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Splice_Site|KLC3_ENST00000470402.1_Splice_Site	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3						axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCCCTCCCCAGGCCCTTCGCC	0.682																																																	0								ENSG00000104892						23	28	26					19																	45853898		1914	4110	6024	KLC3	SO:0001630	splice_region_variant	0			-	HGNC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1273-1G>C	19.37:g.45853898G>C		Somatic	0	42	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Splice_Site	SNP							-	e10-1	ENST00000391946.2	37	c.1315-1	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530958	0.45073	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.23492	N	0.997563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1096	0.48223	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC3	50545738	0.874000	0.30092	0.934000	0.37439	0.508000	0.34012	4.997000	0.63921	2.059000	0.61396	0.455000	0.32223	.	-	-		0.682	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	protein_coding	OTTHUMT00000289776.1	G	NM_145275	-	Intron	45853898	1	no_errors	ENST00000470402	ensembl	human	known	74_37	splice_site	SNP	0.321	C	C	45853898	G	C	45853898	5	2	98	1	0	0	0	0	0	0	1	0	8337	1014	35	4	1310	4	KLC3	19	45853898	Splice_Site	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	824662	45853898	13275085	102	5689											
KCNJ6	3763	genome.wustl.edu	37	chr21	38997772	38997772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgtaggagcttcgagCttggcatgtcatccctgcag	14	9	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr21:38997772C>A	ENST00000609713.1	-	4	1550	c.961G>T	c.(961-963)Gct>Tct	p.A321S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.A321S	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	321					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)	GAGCTTCGAGCTTGGCATGTC	0.527																																					Pancreas(48;379 1118 2936 19024 28214)												0								ENSG00000157542						64	68	67					21																	38997772		2090	4232	6322	KCNJ6	SO:0001583	missense	0			-	HGNC	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.961G>T	21.37:g.38997772C>A	ENSP00000477437:p.Ala321Ser	Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	35.71	Q3MJ74|Q53WW6	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.A321S	ENST00000609713.1	37	c.961	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.220665	0.95139	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.94650	-3.48;-3.48	5.99	5.99	0.97316	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.83223	2.63	0.80722	D	1	P	0.50710	0.938	D	0.69824	0.966	D	0.97431	1.0015	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	321	P48051	IRK6_HUMAN	S	321	ENSP00000383330:A321S;ENSP00000288309:A321S	ENSP00000288309:A321S	A	-	1	0	KCNJ6	37919642	1.000000	0.71417	0.826000	0.32828	0.977000	0.68977	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GCT	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.527	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	protein_coding	OTTHUMT00000194828.2	C	NM_002240	-		38997772	-1	no_errors	ENST00000288309	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38997772	C	A	38997772	3	1	98	1	0	0	0	0	1	0	0	0	8057	797	28	3	314	3	KCNJ6	21	38997772	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09		38997772	9132123	103	5690											
KRTAP10-10	353333	genome.wustl.edu	37	chr21	46057634	46057634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcctgtctgctgTgtgcccgtctgctgcgtgcc	14	13	2	0	rs61029972	byFrequency	TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr21:46057634T>C	ENST00000380095.1	+	1	362	c.300T>C	c.(298-300)tgT>tgC	p.C100C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	100	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ctgtctgctgtgtgcccgtct	0.632													C|||	539	0.107628	0.2383	0.0591	5008	,	,		18755	0.0109		0.0557	False		,,,				2504	0.1186																0								ENSG00000221859						126	121	123					21																	46057634		2203	4298	6501	KRTAP10-10	SO:0001819	synonymous_variant	0			-	HGNC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.300T>C	21.37:g.46057634T>C		Somatic	0	34	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42		Silent	SNP							NULL	p.C100	ENST00000380095.1	37	c.300	CCDS33585.1	21																																																																																			-	NULL		0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-10	protein_coding	OTTHUMT00000128034.1	T	NM_181688	rs61029972		46057634	1	no_errors	ENST00000380095	ensembl	human	known	74_37	silent	SNP	0.122	C	C	46057634	T	C	46057634	2	2	98	1	0	0	0	0	0	0	0	1	8508	1702	59	5		5	KRTAP10-10	21	46057634	Silent	SNP	T	TCGA-DX-A8BL-01A-11D-A417-09	7059862	46057634	2072261	104	5691											
HMGXB4	10042	genome.wustl.edu	37	chr22	35661128	35661128	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctttctgaaaacagcccgGaaaaagcacaagtcatcctc	7	12	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr22:35661128G>T	ENST00000216106.5	+	5	875	c.747G>T	c.(745-747)cgG>cgT	p.R249R	HMGXB4_ENST00000444518.2_Silent_p.R140R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	249					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAACAGCCCGGAAAAAGCACA	0.507																																																	0								ENSG00000100281						75	80	78					22																	35661128		2203	4300	6503	HMGXB4	SO:0001819	synonymous_variant	0			-	HGNC	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.747G>T	22.37:g.35661128G>T		Somatic	0	18	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	O75672|O75673|Q9UMT5	Silent	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R249	ENST00000216106.5	37	c.747	CCDS33641.1	22																																																																																			-	NULL		0.507	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	protein_coding	OTTHUMT00000318104.2	G	NM_005487	-		35661128	1	no_errors	ENST00000216106	ensembl	human	known	74_37	silent	SNP	1.000	T	T	35661128	G	T	35661128	2	4	98	1	0	0	0	0	0	0	0	1	7241	1161	41	3		3	HMGXB4	22	35661128	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		35661128	15643438	105	5692											
NOL12	79159	genome.wustl.edu	37	chr22	38084916	38084916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagtcggtgcagtatgacCaccccaaccacacagtcacc	9	16	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chr22:38084916C>T	ENST00000359114.4	+	4	368	c.298C>T	c.(298-300)Cac>Tac	p.H100Y	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	100						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GCAGTATGACCACCCCAACCA	0.637																																																	0								ENSG00000100101						208	179	189					22																	38084916		2203	4300	6503	NOL12	SO:0001583	missense	0			-	HGNC	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.298C>T	22.37:g.38084916C>T	ENSP00000352021:p.His100Tyr	Somatic	0	37	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43		Missense_Mutation	SNP							pfam_Nucleolar_protein_12	p.H100Y	ENST00000359114.4	37	c.298	CCDS13955.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.299617	0.95574	.	.	ENSG00000256872	ENST00000359114	D	0.83837	-1.77	5.66	5.66	0.87406	.	0.085997	0.85682	D	0.000000	D	0.89185	0.6643	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89616	0.3845	10	0.72032	D	0.01	-33.6398	17.9188	0.88960	0.0:1.0:0.0:0.0	.	100	Q9UGY1	NOL12_HUMAN	Y	100	ENSP00000352021:H100Y	ENSP00000352021:H100Y	H	+	1	0	Z83844.2	36414862	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.143000	0.77348	2.675000	0.91044	0.655000	0.94253	CAC	-	pfam_Nucleolar_protein_12		0.637	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL12	protein_coding	OTTHUMT00000319476.1	C	NM_024313	-		38084916	1	no_errors	ENST00000359114	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38084916	C	T	38084916	3	4	98	1	0	0	0	0	1	0	0	0	10524	594	21	2	312	2	NOL12	22	38084916	Missense_Mutation	SNP	C	TCGA-DX-A8BL-01A-11D-A417-09	2423788	38084916	13219650	106	5693											
DCAF8L1	139425	genome.wustl.edu	37	chrX	27997691	27997691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcttggccctcctcctcGgatgtatctgaggtgctgga	12	12	2	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chrX:27997691G>A	ENST00000441525.1	-	1	1875	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	587										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTCCTCCTCGGATGTATCTG	0.502													g|||	1	0.000264901	8e-04	0	3775	,	,		13163	0		0	False		,,,				2504	0																0								ENSG00000226372						113	87	96					X																	27997691		2202	4300	6502	DCAF8L1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1761C>T	X.37:g.27997691G>A		Somatic	0	35	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	51	32.00	B3KXX1	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S587	ENST00000441525.1	37	c.1761	CCDS35222.1	X																																																																																			-	NULL		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	protein_coding	OTTHUMT00000056150.2	G	XM_066690	-		27997691	-1	no_errors	ENST00000441525	ensembl	human	known	74_37	silent	SNP	0.782	A	A	27997691	G	A	27997691	2	1	98	1	0	0	0	0	0	0	0	1	4279	1103	39	1		1	DCAF8L1	23	27997691	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09		27997691	127272869	107	5694											
ZNF81	347344	genome.wustl.edu	37	chrX	47775958	47775958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagataaaccgtAtaaatgcagcgactgtggaa	10	7	1	1			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chrX:47775958A>G	ENST00000376954.1	+	6	2281	c.1913A>G	c.(1912-1914)tAt>tGt	p.Y638C	ZNF81_ENST00000338637.7_Missense_Mutation_p.Y638C			P51508	ZNF81_HUMAN	zinc finger protein 81	638					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GATAAACCGTATAAATGCAGC	0.383																																																	0								ENSG00000197779						42	43	42					X																	47775958		2090	4232	6322	ZNF81	SO:0001583	missense	0			-	HGNC	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1913A>G	X.37:g.47775958A>G	ENSP00000366153:p.Tyr638Cys	Somatic	0	39	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.96	Q6RX22|Q96QH6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y638C	ENST00000376954.1	37	c.1913	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208719	0.39003	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25414	1.8;1.8	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36665	N	0.002467	T	0.46347	0.1388	M	0.78049	2.395	0.25269	N	0.989534	D	0.89917	1.0	D	0.76071	0.987	T	0.37126	-0.9719	10	0.72032	D	0.01	.	6.279	0.20997	0.7753:0.0:0.0:0.2247	.	638	P51508	ZNF81_HUMAN	C	638	ENSP00000366153:Y638C;ENSP00000341151:Y638C	ENSP00000341151:Y638C	Y	+	2	0	ZNF81	47660902	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.200000	0.17257	1.881000	0.54492	0.417000	0.27973	TAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	protein_coding	OTTHUMT00000056455.2	A	NM_007137	-		47775958	1	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47775958	A	G	47775958	3	3	98	1	0	0	0	0	1	0	0	0	18181	449	16	5	1927	5	ZNF81	23	47775958	Missense_Mutation	SNP	A	TCGA-DX-A8BL-01A-11D-A417-09	19778267	47775958	107494602	108	5695											
CYSLTR1	10800	genome.wustl.edu	37	chrX	77528983	77528983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcaccaaagagccaaatGcctttgtgaacataatagac	7	9	1	3			TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chrX:77528983G>T	ENST00000373304.3	-	3	553	c.261C>A	c.(259-261)ggC>ggA	p.G87G		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	87					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGAGCCAAATGCCTTTGTGAA	0.433																																																	0								ENSG00000173198						68	53	58					X																	77528983		2202	4300	6502	CYSLTR1	SO:0001819	synonymous_variant	0			-	HGNC	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.261C>A	X.37:g.77528983G>T		Somatic	0	26	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G87	ENST00000373304.3	37	c.261	CCDS14439.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.433	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	protein_coding	OTTHUMT00000057315.1	G		-		77528983	-1	no_errors	ENST00000373304	ensembl	human	known	74_37	silent	SNP	0.823	T	T	77528983	G	T	77528983	2	4	98	1	0	0	0	0	0	0	0	1	4203	1306	46	3		3	CYSLTR1	23	77528983	Silent	SNP	G	TCGA-DX-A8BL-01A-11D-A417-09	29753025	77528983	77741577	109	5696											
MAP7D3	79649	genome.wustl.edu	37	chrX	135328309	135328310	+	Splice_Site	INS	-	-	A													gcatggatccatcgattactINSaaaaaaaaaagaatatagtt					rs369808467		TCGA-DX-A8BL-01A-11D-A417-09	TCGA-DX-A8BL-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e48209f-ba06-4da0-b1d5-3e7bb00d5cba	13d21ee5-7825-41f8-a9b2-9d73657bf6c9	g.chrX:135328309_135328310insA	ENST00000316077.9	-	3	390		c.e3-2		MAP7D3_ENST00000370663.5_Splice_Site|MAP7D3_ENST00000370661.1_Splice_Site	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3						microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CATCGATTACTAAAAAAAAAAG	0.307																																																	0								ENSG00000129680																																			MAP7D3	SO:0001630	splice_region_variant	0				HGNC	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.170-2->T	X.37:g.135328319_135328319dupA		Somatic	0	32	0		0.568004563915757				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Splice_Site	INS							-	e3-2	ENST00000316077.9	37	c.116-3_116-2	CCDS44004.1	X																																																																																			-	-		0.307	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	protein_coding	OTTHUMT00000058487.2	-			Intron	135328310	-1	no_errors	ENST00000370663	ensembl	human	known	74_37	splice_site_ins	INS	0.444:0.001	A	A	135328310	-	A	135328309	8	5	98	1	0	1	1	0	0	0	1	0	9271	1536	53	0	2526	0	MAP7D3	23	135328309	Splice_Site	INS	-	TCGA-DX-A8BL-01A-11D-A417-09	57799326	135328309	19942251	110	5697											
PRAMEF22	653606	genome.wustl.edu	37	chr1	13036643	13036643	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgaggaatcttcgcaaaCtcttcatctccgatggctgt	9	10	4	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:13036643C>G	ENST00000376187.1	+	2	715	c.715C>G	c.(715-717)Ctc>Gtc	p.L239V	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	239					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)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TCTTCGCAAACTCTTCATCTC	0.488																																																	0								ENSG00000204508						136	160	152					1																	13036643		2201	4297	6498	PRAMEF22	SO:0001583	missense	0			-	HGNC			1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.715C>G	1.37:g.13036643C>G	ENSP00000365358:p.Leu239Val	Somatic	0	253	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	257	28.81	A6NMM3	Missense_Mutation	SNP							NULL	p.L239V	ENST00000376187.1	37	c.715	CCDS41256.1	1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.428761	0.25726	.	.	ENSG00000204508	ENST00000376187	T	0.73258	-0.73	1.18	1.18	0.20946	.	0.082846	0.46758	D	0.000274	T	0.78672	0.4320	M	0.74467	2.265	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64445	-0.6406	10	0.52906	T	0.07	.	5.7626	0.18209	0.0:1.0:0.0:0.0	.	239	A3QJZ6	PRA22_HUMAN	V	239	ENSP00000365358:L239V	ENSP00000365358:L239V	L	+	1	0	PRAMEF22	12959230	0.001000	0.12720	0.012000	0.15200	0.079000	0.17450	0.167000	0.16602	0.959000	0.37980	0.194000	0.17425	CTC	-	NULL		0.488	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	protein_coding	OTTHUMT00000158511.1	C	NM_001100631	-		13036643	1	no_errors	ENST00000376187	ensembl	human	known	74_37	missense	SNP	0.014	G	G	13036643	C	G	13036643	3	3	99	1	0	0	0	0	1	0	0	0	12441	565	20	4	721	4	PRAMEF22	1	13036643	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		13036643	236213978	1	5698											
LRP8	7804	genome.wustl.edu	37	chr1	53724068	53724068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtacttgggagagtggctgGagatctgaggagcaggaagg	19	4	1	3			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:53724068G>T	ENST00000306052.6	-	14	2233	c.2132C>A	c.(2131-2133)tCc>tAc	p.S711Y	LRP8_ENST00000371454.2_Missense_Mutation_p.S711Y|LRP8_ENST00000465675.1_Missense_Mutation_p.S264Y|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Missense_Mutation_p.S541Y|LRP8_ENST00000354412.3_Missense_Mutation_p.S582Y	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	711					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						AGAGTGGCTGGAGATCTGAGG	0.557																																																	0								ENSG00000157193						149	130	136					1																	53724068		2203	4300	6503	LRP8	SO:0001583	missense	0			-	HGNC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2132C>A	1.37:g.53724068G>T	ENSP00000303634:p.Ser711Tyr	Somatic	0	21	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S711Y	ENST00000306052.6	37	c.2132	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535299	0.64972	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.35	4.44	0.53790	Growth factor, receptor (1);Epidermal growth factor-like (1);	.	.	.	.	D	0.87881	0.6289	L	0.55481	1.735	0.48632	D	0.999681	P;D;D;D;D;P	0.69078	0.897;0.997;0.996;0.995;0.969;0.897	P;D;D;P;P;P	0.66602	0.492;0.943;0.945;0.861;0.845;0.492	D	0.88841	0.3312	9	0.87932	D	0	.	13.8573	0.63537	0.0738:0.0:0.9262:0.0	.	264;582;541;711;711;264	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	Y	711;711;264;582;541	ENSP00000303634:S711Y;ENSP00000360509:S711Y;ENSP00000437009:S264Y;ENSP00000346391:S582Y;ENSP00000334522:S541Y	ENSP00000303634:S711Y	S	-	2	0	LRP8	53496656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.711000	0.54868	1.249000	0.43950	0.563000	0.77884	TCC	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom		0.557	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	protein_coding	OTTHUMT00000024699.1	G	NM_004631	-		53724068	-1	no_errors	ENST00000306052	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53724068	G	T	53724068	3	4	99	1	0	0	0	0	1	0	0	0	8965	1174	41	3	783	3	LRP8	1	53724068	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	40687425	53724068	195526553	2	5699											
LRRC7	57554	genome.wustl.edu	37	chr1	70503937	70503937	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaactggactgatggctcGcattatgacaacacagggtt	11	9	0	2	rs12567778	byFrequency	TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:70503937G>T	ENST00000035383.5	+	19	2346	c.2316G>T	c.(2314-2316)tcG>tcT	p.S772S	LRRC7_ENST00000310961.5_Silent_p.S777S|LRRC7_ENST00000415775.2_Silent_p.S56S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	772						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.S772S(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATGGCTCGCATTATGACA	0.507																																																	2	Substitution - coding silent(2)	lung(1)|stomach(1)						ENSG00000033122						152	139	143					1																	70503937		2203	4300	6503	LRRC7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2316G>T	1.37:g.70503937G>T		Somatic	0	41	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP							pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.S772	ENST00000035383.5	37	c.2316	CCDS645.1	1																																																																																			-	NULL		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	G	NM_020794	-		70503937	1	no_errors	ENST00000035383	ensembl	human	known	74_37	silent	SNP	0.017	T	T	70503937	G	T	70503937	2	4	99	1	0	0	0	0	0	0	0	1	9022	1074	38	3		3	LRRC7	1	70503937	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	16779869	70503937	178746684	3	5700											
TTLL7	79739	genome.wustl.edu	37	chr1	84373161	84373161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgagagttggtagagcagGcatcattactgtgaggcaga	14	6	1	4			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:84373161G>T	ENST00000260505.8	-	16	2347	c.1970C>A	c.(1969-1971)gCc>gAc	p.A657D	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	657					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGTAGAGCAGGCATCATTACT	0.478																																																	0								ENSG00000137941						129	117	121					1																	84373161		2203	4300	6503	TTLL7	SO:0001583	missense	0			-	HGNC	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1970C>A	1.37:g.84373161G>T	ENSP00000260505:p.Ala657Asp	Somatic	0	52	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.A657D	ENST00000260505.8	37	c.1970	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	6.966	0.548113	0.13312	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03772	3.81	5.13	-0.131	0.13494	.	3.281660	0.00622	N	0.000452	T	0.00784	0.0026	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	10	0.16896	T	0.51	.	1.6042	0.02680	0.3074:0.1397:0.4106:0.1423	.	657	Q6ZT98	TTLL7_HUMAN	D	657;434;657	ENSP00000260505:A657D	ENSP00000260505:A657D	A	-	2	0	TTLL7	84145749	0.000000	0.05858	0.055000	0.19348	0.006000	0.05464	0.308000	0.19314	0.333000	0.23563	-0.225000	0.12378	GCC	-	NULL		0.478	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	protein_coding	OTTHUMT00000027498.1	G	NM_024686	-		84373161	-1	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	SNP	0.000	T	T	84373161	G	T	84373161	3	4	99	1	0	0	0	0	1	0	0	0	16739	1203	42	3	717	3	TTLL7	1	84373161	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	13869224	84373161	164877460	4	5701											
CCDC18	343099	genome.wustl.edu	37	chr1	93677634	93677659	+	Splice_Site	DEL	TTCCCTTCTTTTCTTTTGTGCCAGAA	TTCCCTTCTTTTCTTTTGTGCCAGAA	-													tagaatctttctaataatttTtcccttcttttcttttgtgc					rs551970879|rs374771686	byFrequency	TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	TTCCCTTCTTTTCTTTTGTGCCAGAA	TTCCCTTCTTTTCTTTTGTGCCAGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:93677634_93677659delTTCCCTTCTTTTCTTTTGTGCCAGAA	ENST00000343253.7	+	11	1836_1838	c.1334_1336delTTCCCTTCTTTTCTTTTGTGCCAGAA	c.(1333-1338)attccc>acc	p.IP445fs	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Splice_Site_p.IP563fs|CCDC18_ENST00000338949.4_Splice_Site_p.IP244fs|CCDC18_ENST00000401026.3_Splice_Site_p.IP445fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	445										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CTAATAATTTTTCCCTTCTTTTCTTTTGTGCCAGAATTAAGCTTGC	0.292																																																	0								ENSG00000122483																																			CCDC18	SO:0001630	splice_region_variant	0				HGNC			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1335-1TTCCCTTCTTTTCTTTTGTGCCAGAA>-	1.37:g.93677634_93677659delTTCCCTTCTTTTCTTTTGTGCCAGAA		Somatic					0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6ZU17	Frame_Shift_Del	DEL							superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R578fs	ENST00000343253.7	37	c.1713_1690		1																																																																																			-	NULL		0.292	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	protein_coding	OTTHUMT00000382327.1	TTCCCTTCTTTTCTTTTGTGCCAGAA	NM_206886		Frame_Shift_Del	93677659	1	no_errors	ENST00000557479	ensembl	human	known	74_37	frame_shift_del	DEL	0.146:0.127:0.051:0.016:0.000:0.000:0.000:0.000:0.003:0.296:0.887:0.894:0.918:0.986:0.995:0.992:0.966:0.782:0.770:0.056:0.047:0.067:0.982:1.000:1.000:1.000	-	-	93677659	TTCCCTTCTTTTCTTTTGTGCCAGAA	-	93677634	8	5	99	1	0	1	0	1	0	0	1	0	2796	1856	64	0		0	CCDC18	1	93677634	Splice_Site	DEL	TTCCCTTCTTTTCTTTTGTGCCAGAA	TCGA-DX-A8BM-01A-11D-A417-09	9304473	93677634	155572987	5	5702											
TRIM46	80128	genome.wustl.edu	37	chr1	155154488	155154488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggatgtggtcctgggCgacgtggctgtgacccaggg	19	8	0	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:155154488C>T	ENST00000334634.4	+	9	1749	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368382.1_Silent_p.G560G|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Silent_p.G583G|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Silent_p.G457G	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	583	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCCTGGGCGACGTGGCTG	0.667																																																	0								ENSG00000163462						23	23	23					1																	155154488		2203	4299	6502	TRIM46	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1749C>T	1.37:g.155154488C>T		Somatic	0	108	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	106	29.33	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.G583	ENST00000334634.4	37	c.1749	CCDS1097.1	1																																																																																			-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.667	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	protein_coding	OTTHUMT00000086728.1	C	NM_025058	-		155154488	1	no_errors	ENST00000334634	ensembl	human	known	74_37	silent	SNP	0.898	T	T	155154488	C	T	155154488	2	4	99	1	0	0	0	0	0	0	0	1	16528	755	27	1		1	TRIM46	1	155154488	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	61476854	155154488	94096133	6	5703											
FCGR3A	2214	genome.wustl.edu	37	chr1	161512900	161512900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaaatatagtcctgTgtccactgcaaaaaggagta	9	8	0	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:161512900T>C	ENST00000436743.1	-	6	821	c.667A>G	c.(667-669)Aca>Gca	p.T223A	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.T223A|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000367969.3_Missense_Mutation_p.T259A|FCGR3A_ENST00000443193.1_Missense_Mutation_p.T258A	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	223					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TATAGTCCTGTGTCCACTGCA	0.428																																																	0								ENSG00000203747						123	125	125					1																	161512900		2203	4300	6503	FCGR3A	SO:0001583	missense	0			-	HGNC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.667A>G	1.37:g.161512900T>C	ENSP00000416607:p.Thr223Ala	Somatic	0	84	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	71	27.55	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.T259A	ENST00000436743.1	37	c.775	CCDS44266.1	1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582205	0.65992	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.02121	4.44;4.44;4.57;4.57;4.57	4.44	4.44	0.53790	.	4.491350	0.01193	N	0.007372	T	0.07683	0.0193	M	0.79011	2.435	0.33871	D	0.634989	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.991;0.991;0.963	T	0.01488	-1.1342	10	0.54805	T	0.06	.	10.267	0.43460	0.0:0.0:0.0:1.0	.	223;258;223	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	A	259;258;223;223;223	ENSP00000356946:T259A;ENSP00000392047:T258A;ENSP00000416607:T223A;ENSP00000356944:T223A;ENSP00000444971:T223A	ENSP00000356944:T223A	T	-	1	0	FCGR3A	159779524	1.000000	0.71417	0.991000	0.47740	0.864000	0.49448	3.118000	0.50414	1.989000	0.58080	0.482000	0.46254	ACA	-	NULL		0.428	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	protein_coding	OTTHUMT00000102169.2	T	NM_000569	-		161512900	-1	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	SNP	0.997	C	C	161512900	T	C	161512900	3	2	99	1	0	0	0	0	1	0	0	0	5786	1696	59	5	101	5	FCGR3A	1	161512900	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	6358412	161512900	87737721	7	5704											
SELP	6403	genome.wustl.edu	37	chr1	169572298	169572298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagtctgtccagcgtccCgatcgagtacaatccaatct	11	12	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:169572298C>T	ENST00000263686.6	-	10	1708	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	SELP_ENST00000367791.2_Silent_p.S433S|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Silent_p.S495S|SELP_ENST00000367788.2_Silent_p.S495S|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Silent_p.S495S|SELP_ENST00000367786.2_Silent_p.S495S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	557	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCCAGCGTCCCGATCGAGTAC	0.448																																																	0								ENSG00000174175						108	99	102					1																	169572298		2203	4300	6503	SELP	SO:0001819	synonymous_variant	0			-	HGNC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1671G>A	1.37:g.169572298C>T		Somatic	0	66	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41	Q5R344|Q8IVD1	Silent	SNP							pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S557	ENST00000263686.6	37	c.1671	CCDS1282.1	1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.448	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	protein_coding	OTTHUMT00000083916.4	C	NM_003005	-		169572298	-1	no_errors	ENST00000263686	ensembl	human	known	74_37	silent	SNP	0.323	T	T	169572298	C	T	169572298	2	4	99	1	0	0	0	0	0	0	0	1	14027	639	23	1		1	SELP	1	169572298	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	8059398	169572298	79678323	8	5705											
CNTN2	6900	genome.wustl.edu	37	chr1	205028265	205028265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacttcatcccgacggacGggcgtcacttcgtgtcccag	10	16	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:205028265G>A	ENST00000331830.4	+	6	825	c.541G>A	c.(541-543)Ggg>Agg	p.G181R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	181	Ig-like C2-type 2.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCGACGGACGGGCGTCACTT	0.582																																					Melanoma(183;2548 2817 37099 41192)												0								ENSG00000184144						70	60	63					1																	205028265		2203	4300	6503	CNTN2	SO:0001583	missense	0			-	HGNC	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.541G>A	1.37:g.205028265G>A	ENSP00000330633:p.Gly181Arg	Somatic	0	32	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	P78432|Q5T054	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G181R	ENST00000331830.4	37	c.541	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818420	0.32145	.	.	ENSG00000184144	ENST00000331830	T	0.78364	-1.17	4.47	3.56	0.40772	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114163	0.38959	N	0.001501	T	0.58935	0.2157	L	0.28608	0.87	0.47994	D	0.999563	P;P;B	0.36974	0.576;0.576;0.394	B;B;B	0.28139	0.086;0.086;0.086	T	0.54417	-0.8297	10	0.27082	T	0.32	.	7.8387	0.29384	0.2592:0.0:0.7408:0.0	.	181;181;72	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	R	181	ENSP00000330633:G181R	ENSP00000330633:G181R	G	+	1	0	CNTN2	203294888	1.000000	0.71417	0.973000	0.42090	0.958000	0.62258	5.549000	0.67261	1.027000	0.39758	-0.203000	0.12734	GGG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	protein_coding	OTTHUMT00000090080.3	G	NM_005076	-		205028265	1	no_errors	ENST00000331830	ensembl	human	known	74_37	missense	SNP	0.980	A	A	205028265	G	A	205028265	3	1	99	1	0	0	0	0	1	0	0	0	3643	1116	39	1	559	1	CNTN2	1	205028265	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	35455967	205028265	44222356	9	5706											
C1orf107	27042	genome.wustl.edu	37	chr1	210001516	210001516	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcatcccttctatgacagGtctgaaggggcgtggcaggg	16	9	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:210001516G>T	ENST00000491415.2	+	1	164		c.e1+1			NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)						multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCTATGACAGGTCTGAAGGGG	0.557											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000117597						45	43	44					1																	210001516		2203	4300	6503	DIEXF	SO:0001630	splice_region_variant	0			-	HGNC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.107+1G>T	1.37:g.210001516G>T		Somatic	0	27	0	2187	0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	O75992|Q4VY00|Q63HL9	Splice_Site	SNP							-	e1+1	ENST00000491415.2	37	c.107+1	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816637	0.70912	.	.	ENSG00000117597	ENST00000491415	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1484	0.89667	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIEXF	208068139	1.000000	0.71417	0.993000	0.49108	0.882000	0.50991	6.506000	0.73712	2.367000	0.80283	0.655000	0.94253	.	-	-		0.557	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	G	NM_014388	-	Intron	210001516	1	no_errors	ENST00000491415	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	210001516	G	T	210001516	5	4	99	1	0	0	0	0	0	0	1	0	1983	1275	44	3	110	3	C1orf107	1	210001516	Splice_Site	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	4973251	210001516	39249105	10	5707											
USH2A	7399	genome.wustl.edu	37	chr1	216256823	216256823	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaggtccatctttgTtataaacgaaaagaagcaat	7	6	2	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr1:216256823T>A	ENST00000307340.3	-	26	5659	c.5273A>T	c.(5272-5274)aAc>aTc	p.N1758I	USH2A_ENST00000366943.2_Missense_Mutation_p.N1758I|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000042781						95	99	97					1																	216256823		2202	4299	6501	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5273A>T	1.37:g.216256823T>A	ENSP00000305941:p.Asn1758Ile	Somatic	0	140	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	55	37.50	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N1758I	ENST00000307340.3	37	c.5273	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514563	0.64522	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.80566	-1.39;-1.39	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	D	0.87229	0.6125	M	0.73598	2.24	0.37378	D	0.911926	D	0.89917	1.0	D	0.75020	0.985	D	0.88077	0.2804	10	0.62326	D	0.03	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	I	1758	ENSP00000305941:N1758I;ENSP00000355910:N1758I	ENSP00000305941:N1758I	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	T	NM_007123	-		216256823	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.994	A	A	216256823	T	A	216256823	3	1	99	1	0	0	0	0	1	0	0	0	17043	1725	60	5	10523	5	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	6255307	216256823	32993798	11	5708											
MYT1L	23040	genome.wustl.edu	37	chr2	1947065	1947065	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggttcctggggctgtttaTcttgtgtttttctttttttc	9	7	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr2:1947065T>A	ENST00000399161.2	-	9	941	c.194A>T	c.(193-195)gAt>gTt	p.D65V	MYT1L_ENST00000428368.2_Missense_Mutation_p.D65V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	65					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGCTGTTTATCTTGTGTTTT	0.433																																																	0								ENSG00000186487						65	57	59					2																	1947065		1921	4130	6051	MYT1L	SO:0001583	missense	0			-	HGNC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.194A>T	2.37:g.1947065T>A	ENSP00000382114:p.Asp65Val	Somatic	0	42	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	10	64.29	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.D65V	ENST00000399161.2	37	c.194		2	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451879	0.63290	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.53423	0.62;0.62	5.46	5.46	0.80206	.	0.058680	0.64402	D	0.000003	T	0.40473	0.1118	N	0.19112	0.55	0.80722	D	1	B;P	0.35908	0.392;0.527	B;B	0.41332	0.193;0.354	T	0.38866	-0.9641	10	0.49607	T	0.09	-39.3063	15.5524	0.76164	0.0:0.0:0.0:1.0	.	65;65	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	65	ENSP00000382114:D65V;ENSP00000396103:D65V	ENSP00000295067:D65V	D	-	2	0	MYT1L	1926072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.023000	0.76437	2.079000	0.62486	0.455000	0.32223	GAT	-	NULL		0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	T	NM_015025	-		1947065	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1947065	T	A	1947065	3	1	99	1	0	0	0	0	1	0	0	0	10109	1435	50	5	3428	5	MYT1L	2	1947065	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09		1947065	241252308	12	5709											
ANXA4	307	genome.wustl.edu	37	chr2	70043324	70043324	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgaaatcacctgttgcAtggtaaggcacttacttcat	8	10	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr2:70043324A>T	ENST00000394295.4	+	9	874	c.626A>T	c.(625-627)cAt>cTt	p.H209L	ANXA4_ENST00000536030.1_Missense_Mutation_p.H125L|ANXA4_ENST00000409920.1_Missense_Mutation_p.H187L	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	207					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CACCTGTTGCATGGTAAGGCA	0.433																																																	0								ENSG00000196975						94	94	94					2																	70043324		2203	4300	6503	ANXA4	SO:0001583	missense	0			-	HGNC	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.626A>T	2.37:g.70043324A>T	ENSP00000377833:p.His209Leu	Somatic	0	61	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV	p.H209L	ENST00000394295.4	37	c.626	CCDS1894.1	2	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121988	0.56613	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03004	4.08;4.08;4.08	5.35	5.35	0.76521	Annexin repeat, conserved site (1);	0.155014	0.56097	D	0.000035	T	0.01029	0.0034	N	0.00149	-1.99	0.41960	D	0.990708	P;B;B	0.36465	0.554;0.232;0.01	B;B;B	0.34991	0.135;0.193;0.004	T	0.64394	-0.6418	9	.	.	.	.	13.3339	0.60505	1.0:0.0:0.0:0.0	.	207;187;209	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	L	187;209;125	ENSP00000386756:H187L;ENSP00000377833:H209L;ENSP00000441931:H125L	.	H	+	2	0	ANXA4	69896828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.898000	0.39809	2.250000	0.74265	0.533000	0.62120	CAT	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinV		0.433	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA4	protein_coding	OTTHUMT00000251848.2	A	NM_001153	-		70043324	1	no_errors	ENST00000394295	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70043324	A	T	70043324	3	4	99	1	0	0	0	0	1	0	0	0	720	217	8	5	656	5	ANXA4	2	70043324	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09	68096259	70043324	173156049	13	5710											
CTNNA2	1496	genome.wustl.edu	37	chr2	80085281	80085281	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcggacatggcagatgtcatGagacttttatcccatctgaa	10	9	2	3			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr2:80085281G>A	ENST00000402739.4	+	3	446	c.441G>A	c.(439-441)atG>atA	p.M147I	CTNNA2_ENST00000466387.1_Missense_Mutation_p.M147I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M147I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M181I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M147I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M147I	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	147					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)			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						CAGATGTCATGAGACTTTTAT	0.498																																																	0								ENSG00000066032						65	64	64					2																	80085281		2013	4180	6193	CTNNA2	SO:0001583	missense	0			-	HGNC		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.441G>A	2.37:g.80085281G>A	ENSP00000384638:p.Met147Ile	Somatic	0	23	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.M181I	ENST00000402739.4	37	c.543		2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886337	0.51908	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.67	5.67	0.87782	.	0.049329	0.85682	D	0.000000	T	0.30262	0.0759	N	0.19112	0.55	0.47819	D	0.99952	B;B;B	0.18741	0.002;0.03;0.03	B;B;B	0.23018	0.004;0.007;0.043	T	0.04664	-1.0935	10	0.46703	T	0.11	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	147;147;147	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	I	147;147;181;147;147;147	ENSP00000418191:M147I;ENSP00000419295:M147I;ENSP00000355398:M181I;ENSP00000384638:M147I;ENSP00000444675:M147I;ENSP00000441705:M147I	ENSP00000355398:M181I	M	+	3	0	CTNNA2	79938789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.424000	0.66464	2.677000	0.91161	0.655000	0.94253	ATG	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	protein_coding	OTTHUMT00000328511.4	G	NM_004389	-		80085281	1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80085281	G	A	80085281	3	1	99	1	0	0	0	0	1	0	0	0	4015	1290	45	2	451	2	CTNNA2	2	80085281	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	10041957	80085281	163114092	14	5711											
TTN	7273	genome.wustl.edu	37	chr2	179470001	179470001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcctcgaacactcagaCgcaacttaatagttggaggc	9	11	2	1	rs200100660		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr2:179470001C>T	ENST00000591111.1	-	230	49204	c.48980G>A	c.(48979-48981)cGt>cAt	p.R16327H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9028H|TTN_ENST00000460472.2_Missense_Mutation_p.R8903H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17968H|TTN_ENST00000342175.6_Missense_Mutation_p.R9095H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15400H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16327	Ig-like 100.				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)			AACACTCAGACGCAACTTAAT	0.433																																																	0								ENSG00000155657	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3767		0,1,1883	27	25	26		26708,46199,27083,27284	5.7	1	2		26	3,8183		0,3,4090	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,4,5973	TT,TC,CC		0.0366,0.0265,0.0335	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8903/26927,15400/33424,9028/27052,9095/27119	179470001	4,11950	1884	4093	5977	TTN	SO:0001583	missense	0			-	HGNC	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.48980G>A	2.37:g.179470001C>T	ENSP00000465570:p.Arg16327His	Somatic	0	63	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	30	43.64	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15400H	ENST00000591111.1	37	c.46199		2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914675	0.33815	2.65E-4	3.66E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.16;0.14;0.13	5.74	5.74	0.90152	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64527	0.2606	N	0.24115	0.695	0.33490	D	0.588604	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.60609	0.877;0.877;0.877;0.877	T	0.73767	-0.3879	9	0.87932	D	0	.	13.1728	0.59609	0.0:0.9273:0.0:0.0727	.	8903;9028;9095;16327	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15400;8903;9095;9028;8903	ENSP00000343764:R15400H;ENSP00000434586:R8903H;ENSP00000340554:R9095H;ENSP00000352154:R9028H	ENSP00000340554:R9095H	R	-	2	0	TTN	179178246	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.691000	0.47010	2.712000	0.92718	0.563000	0.77884	CGT	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	rs200100660		179470001	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179470001	C	T	179470001	3	4	99	1	0	0	0	0	1	0	0	0	16742	536	19	1	54122	1	TTN	2	179470001	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	99384720	179470001	63729372	15	5712											
INPP1	3628	genome.wustl.edu	37	chr2	191235994	191235994	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacagttggtgtaccacgtgGaaaatgagggtgctgctggg	16	7	0	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr2:191235994G>T	ENST00000322522.4	+	6	1522	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	INPP1_ENST00000392329.2_Nonsense_Mutation_p.E356*|INPP1_ENST00000541441.1_Nonsense_Mutation_p.E356*	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	356					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GTACCACGTGGAAAATGAGGG	0.522																																					Melanoma(130;184 1743 2185 19805 38428)												0								ENSG00000151689						70	72	71					2																	191235994		2203	4300	6503	INPP1	SO:0001587	stop_gained	0			-	HGNC		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1066G>T	2.37:g.191235994G>T	ENSP00000325423:p.Glu356*	Somatic	0	66	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.52		Nonsense_Mutation	SNP							pfam_Inositol_monophosphatase	p.E356*	ENST00000322522.4	37	c.1066	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	G	41	9.148640	0.99082	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	.	.	.	5.19	4.3	0.51218	.	0.437330	0.26300	N	0.025162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-6.1516	12.452	0.55682	0.0:0.3534:0.6466:0.0	.	.	.	.	X	356	.	ENSP00000325423:E356X	E	+	1	0	INPP1	190944239	0.561000	0.26578	0.884000	0.34674	0.775000	0.43874	1.422000	0.34826	1.385000	0.46445	0.555000	0.69702	GAA	-	pfam_Inositol_monophosphatase		0.522	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	protein_coding	OTTHUMT00000255932.2	G		-		191235994	1	no_errors	ENST00000322522	ensembl	human	known	74_37	nonsense	SNP	0.994	T	T	191235994	G	T	191235994	4	4	99	1	0	0	0	0	0	1	0	0	7753	1175	41	3	1084	3	INPP1	2	191235994	Nonsense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	11765993	191235994	51963379	16	5713											
TATDN2	9797	genome.wustl.edu	37	chr3	10302199	10302199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaggataagacagtgCcagagaggagcagcttctat	15	6	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr3:10302199C>T	ENST00000287652.4	+	3	1844	c.793C>T	c.(793-795)Cca>Tca	p.P265S	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.P265S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	265					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TAAGACAGTGCCAGAGAGGAG	0.532																																																	0								ENSG00000157014						69	65	67					3																	10302199		2203	4300	6503	TATDN2	SO:0001583	missense	0			-	HGNC	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.793C>T	3.37:g.10302199C>T	ENSP00000287652:p.Pro265Ser	Somatic	0	22	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	18.18	Q3MIL9|Q5BKU0	Missense_Mutation	SNP							pfam_TatD_family	p.P265S	ENST00000287652.4	37	c.793	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	C	6.713	0.500222	0.12762	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.21361	2.01;2.01	4.05	1.06	0.20224	.	1.838110	0.03789	U	0.262627	T	0.16128	0.0388	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.31166	-0.9953	10	0.59425	D	0.04	8.8594	6.859	0.24056	0.1944:0.4296:0.3761:0.0	.	265	Q93075	TATD2_HUMAN	S	265	ENSP00000287652:P265S;ENSP00000408736:P265S	ENSP00000287652:P265S	P	+	1	0	TATDN2	10277199	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.054000	0.14205	0.219000	0.20840	0.650000	0.86243	CCA	-	NULL		0.532	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	protein_coding	OTTHUMT00000339641.1	C	XM_376203	-		10302199	1	no_errors	ENST00000287652	ensembl	human	known	74_37	missense	SNP	0.000	T	T	10302199	C	T	10302199	3	4	99	1	0	0	0	0	1	0	0	0	15599	739	26	2	799	2	TATDN2	3	10302199	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		10302199	187720231	17	5714											
ZNF732	654254	genome.wustl.edu	37	chr4	265951	265951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagtttgaggatgtggtaAagatgttgccacattcttca	10	6	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr4:265951A>C	ENST00000419098.1	-	4	705	c.695T>G	c.(694-696)tTt>tGt	p.F232C		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	232					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(1)|lung(2)	3						GGATGTGGTAAAGATGTTGCC	0.343																																																	0								ENSG00000186777						79	69	72					4																	265951		692	1591	2283	ZNF732	SO:0001583	missense	0			-	HGNC	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.695T>G	4.37:g.265951A>C	ENSP00000415774:p.Phe232Cys	Somatic	0	28	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F232C	ENST00000419098.1	37	c.695	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494803	0.26774	.	.	ENSG00000186777	ENST00000419098	T	0.45668	0.89	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62588	0.2440	M	0.88241	2.94	0.09310	N	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.49808	-0.8900	9	0.72032	D	0.01	.	2.9462	0.05847	0.6852:0.0:0.3148:0.0	.	232	B4DXR9	ZN732_HUMAN	C	232	ENSP00000415774:F232C	ENSP00000415774:F232C	F	-	2	0	ZNF732	255951	0.839000	0.29477	0.080000	0.20451	0.072000	0.16883	2.723000	0.47277	0.339000	0.23719	0.329000	0.21502	TTT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	protein_coding	OTTHUMT00000357937.2	A	NM_001137608	-		265951	-1	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	SNP	0.264	C	C	265951	A	C	265951	3	2	99	1	0	0	0	0	1	0	0	0	18130	14	1	5	1066	5	ZNF732	4	265951	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09		265951	190888325	18	5715											
C4orf19	55286	genome.wustl.edu	37	chr4	37592165	37592165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcatgagaaatggagactCcagagctccttctgaggcag	12	9	2	4			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr4:37592165C>T	ENST00000284437.6	+	3	666	c.488C>T	c.(487-489)tCc>tTc	p.S163F	C4orf19_ENST00000381980.4_Missense_Mutation_p.S163F|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	163										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AATGGAGACTCCAGAGCTCCT	0.547																																																	0								ENSG00000154274						73	77	76					4																	37592165		2203	4300	6503	C4orf19	SO:0001583	missense	0			-	HGNC	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.488C>T	4.37:g.37592165C>T	ENSP00000284437:p.Ser163Phe	Somatic	0	18	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.28	Q9NV03	Missense_Mutation	SNP							NULL	p.S163F	ENST00000284437.6	37	c.488	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	C	11.46	1.643985	0.29246	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.33654	1.4;1.4	4.88	-0.2	0.13216	.	0.918221	0.09225	N	0.831408	T	0.29588	0.0738	L	0.59436	1.845	0.09310	N	1	B	0.18013	0.025	B	0.17433	0.018	T	0.40979	-0.9534	10	0.72032	D	0.01	0.0025	1.4167	0.02303	0.2959:0.3509:0.198:0.1552	.	163	Q8IY42	CD019_HUMAN	F	163	ENSP00000371408:S163F;ENSP00000284437:S163F	ENSP00000284437:S163F	S	+	2	0	C4orf19	37268560	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	0.656000	0.24948	-0.186000	0.10533	0.591000	0.81541	TCC	-	NULL		0.547	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	protein_coding	OTTHUMT00000250432.1	C	NM_018302	-		37592165	1	no_errors	ENST00000284437	ensembl	human	known	74_37	missense	SNP	0.000	T	T	37592165	C	T	37592165	3	4	99	1	0	0	0	0	1	0	0	0	2255	855	30	2	494	2	C4orf19	4	37592165	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	37326214	37592165	153562111	19	5716											
SCLT1	132320	genome.wustl.edu	37	chr4	129812244	129812244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcatttgccatttccagCtgagaaagcagctcttgggt	9	9	2	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr4:129812244C>A	ENST00000281142.5	-	19	2381	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	SCLT1_ENST00000434680.1_Missense_Mutation_p.Q245H|SCLT1_ENST00000439369.2_Missense_Mutation_p.Q113H|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Missense_Mutation_p.Q222H	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	626					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCATTTCCAGCTGAGAAAGCA	0.398																																																	0								ENSG00000151466						122	116	118					4																	129812244		2203	4300	6503	SCLT1	SO:0001583	missense	0			-	HGNC	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1878G>T	4.37:g.129812244C>A	ENSP00000281142:p.Gln626His	Somatic	0	37	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP							NULL	p.Q626H	ENST00000281142.5	37	c.1878	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359452	0.41801	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.52057	0.68;2.85;2.85	4.43	2.62	0.31277	.	0.063315	0.64402	D	0.000004	T	0.49983	0.1589	L	0.27053	0.805	0.22280	N	0.999239	D;D;D;D	0.69078	0.997;0.997;0.994;0.994	D;D;D;D	0.81914	0.995;0.995;0.931;0.991	T	0.30621	-0.9972	9	.	.	.	-7.8173	9.4631	0.38796	0.0:0.8245:0.0:0.1755	.	113;245;626;222	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	H	626;245;113;222	ENSP00000281142:Q626H;ENSP00000401539:Q245H;ENSP00000424029:Q222H	.	Q	-	3	2	SCLT1	130031694	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.821000	0.39041	1.059000	0.40554	0.585000	0.79938	CAG	-	NULL		0.398	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	protein_coding	OTTHUMT00000257176.2	C	NM_144643	-		129812244	-1	no_errors	ENST00000281142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129812244	C	A	129812244	3	1	99	1	0	0	0	0	1	0	0	0	13914	796	28	3	200	3	SCLT1	4	129812244	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	92220079	129812244	61342032	20	5717											
HMGB2	3148	genome.wustl.edu	37	chr4	174253279	174253279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcatcttcttcttcCtcctcctcctcctcatcttc	0	19	8	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr4:174253279C>T	ENST00000296503.5	-	5	1455	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HMGB2_ENST00000446922.2_Silent_p.E194E|HMGB2_ENST00000438704.2_Silent_p.E194E|RP11-798M19.3_ENST00000507803.1_RNA			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		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;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cttcttcttcctcctcctcct	0.473																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000164104						302	253	269					4																	174253279		2203	4300	6503	HMGB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582G>A	4.37:g.174253279C>T		Somatic	0	36	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2R4K8|D3DP37|Q5U072	Silent	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E194	ENST00000296503.5	37	c.582	CCDS3816.1	4																																																																																			-	NULL		0.473	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	protein_coding	OTTHUMT00000362362.1	C	NM_001130688	-		174253279	-1	no_errors	ENST00000296503	ensembl	human	known	74_37	silent	SNP	0.850	T	T	174253279	C	T	174253279	2	4	99	1	0	0	0	0	0	0	0	1	7228	680	24	2		2	HMGB2	4	174253279	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	44441035	174253279	16900997	21	5718											
CYP4V2	285440	genome.wustl.edu	37	chr4	187118756	187118756	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtccgtgcagtttataGgtaaatggagtcctttcagt	11	6	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr4:187118756G>T	ENST00000378802.4	+	5	978	c.674G>T	c.(673-675)aGa>aTa	p.R225I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	225					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	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 (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCAGTTTATAGGTAAATGGAG	0.318																																																	0								ENSG00000145476						124	127	126					4																	187118756		2203	4300	6503	CYP4V2	SO:0001630	splice_region_variant	0			-	HGNC	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.674+1G>T	4.37:g.187118756G>T		Somatic	0	45	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7U6W2|Q6ZTM4	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R225I	ENST00000378802.4	37	c.674	CCDS34119.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179438	0.78564	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.68903	-0.36	5.2	5.2	0.72013	.	0.091352	0.85682	D	0.000000	T	0.61375	0.2342	L	0.48174	1.505	0.80722	D	1	P	0.37158	0.585	B	0.38985	0.287	T	0.64774	-0.6328	10	0.59425	D	0.04	.	11.9254	0.52817	0.0799:0.0:0.9201:0.0	.	225	Q6ZWL3	CP4V2_HUMAN	I	225;203	ENSP00000368079:R225I	ENSP00000274118:R203I	R	+	2	0	CYP4V2	187355750	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.840000	0.39230	2.698000	0.92095	0.655000	0.94253	AGA	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.318	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4V2	protein_coding	OTTHUMT00000360398.1	G	XM_209612	-	Missense_Mutation	187118756	1	no_errors	ENST00000378802	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187118756	G	T	187118756	5	4	99	1	0	0	0	0	0	0	1	0	4194	1014	35	3	692	3	CYP4V2	4	187118756	Splice_Site	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	12865477	187118756	4035520	22	5719											
CTNND2	1501	genome.wustl.edu	37	chr5	10973629	10973629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcagttcactgtagggaCgggcagctgagtagaagtca	14	7	3	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr5:10973629C>T	ENST00000304623.8	-	22	3803	c.3614G>A	c.(3613-3615)cGt>cAt	p.R1205H	CTNND2_ENST00000359640.2_Missense_Mutation_p.R1147H|CTNND2_ENST00000458100.2_Missense_Mutation_p.R772H|CTNND2_ENST00000503622.1_Missense_Mutation_p.R868H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R1114H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1205					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R1205H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGTAGGGACGGGCAGCTGA	0.612																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000169862						90	86	88					5																	10973629		2203	4300	6503	CTNND2	SO:0001583	missense	0			-	HGNC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3614G>A	5.37:g.10973629C>T	ENSP00000307134:p.Arg1205His	Somatic	0	27	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1205H	ENST00000304623.8	37	c.3614	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404966	0.83230	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	D;D;D;D;D	0.83163	-1.61;-1.69;-1.59;-1.65;-1.61	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.984	D	0.88751	0.3250	10	0.87932	D	0	-8.9039	20.0522	0.97631	0.0:1.0:0.0:0.0	.	868;797;1205	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	1205;1147;1114;300;772;868	ENSP00000307134:R1205H;ENSP00000352661:R1147H;ENSP00000426510:R1114H;ENSP00000391155:R772H;ENSP00000426887:R868H	ENSP00000307134:R1205H	R	-	2	0	CTNND2	11026629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGT	-	NULL		0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	C	NM_001332	-		10973629	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10973629	C	T	10973629	3	4	99	1	0	0	0	0	1	0	0	0	4022	536	19	1	67	1	CTNND2	5	10973629	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		10973629	169941631	23	5720											
THBS4	7060	genome.wustl.edu	37	chr5	79351744	79351744	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggccggctccctagagctCtacctggactgcatccaggt	13	14	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr5:79351744C>G	ENST00000350881.2	+	3	619	c.429C>G	c.(427-429)ctC>ctG	p.L143L	THBS4_ENST00000511733.1_Silent_p.L52L|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	143	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCTAGAGCTCTACCTGGACT	0.567																																																	0								ENSG00000113296						67	72	70					5																	79351744		2203	4300	6503	THBS4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.429C>G	5.37:g.79351744C>G		Somatic	0	34	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	B2R909|Q86TG2	Silent	SNP							pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L143	ENST00000350881.2	37	c.429	CCDS4049.1	5																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.567	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	protein_coding	OTTHUMT00000226977.1	C		-		79351744	1	no_errors	ENST00000350881	ensembl	human	known	74_37	silent	SNP	1.000	G	G	79351744	C	G	79351744	2	3	99	1	0	0	0	0	0	0	0	1	15863	900	32	4		4	THBS4	5	79351744	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	68378115	79351744	101563516	24	5721											
COX7C	1350	genome.wustl.edu	37	chr5	85913886	85913886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcggtatgttgggccagaGcatccggaggttcacaacct	13	11	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr5:85913886G>T	ENST00000509578.1	+	1	114	c.14G>T	c.(13-15)aGc>aTc	p.S5I	COX7C_ENST00000513124.1_Intron|COX7C_ENST00000247655.3_Missense_Mutation_p.S5I|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000515763.1_Missense_Mutation_p.S5I			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	5					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TTGGGCCAGAGCATCCGGAGG	0.577																																																	0								ENSG00000127184						54	58	56					5																	85913886		2203	4300	6503	COX7C	SO:0001583	missense	0			-	HGNC	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.14G>T	5.37:g.85913886G>T	ENSP00000425759:p.Ser5Ile	Somatic	0	52	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q6NR81	Missense_Mutation	SNP							pfam_COX7C/Cox8,superfamily_COX7C/Cox8	p.S5I	ENST00000509578.1	37	c.14	CCDS4063.1	5	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183804	0.57800	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.83	4.94	0.65067	.	0.201093	0.53938	D	0.000051	T	0.47948	0.1473	.	.	.	0.31498	N	0.665097	P	0.46784	0.884	B	0.44224	0.444	T	0.61879	-0.6972	8	0.87932	D	0	-6.4396	13.2181	0.59871	0.0:0.1594:0.8406:0.0	.	5	P15954	COX7C_HUMAN	I	5	.	ENSP00000247655:S5I	S	+	2	0	COX7C	85949642	1.000000	0.71417	0.997000	0.53966	0.254000	0.26022	2.552000	0.45828	1.578000	0.49821	0.644000	0.83932	AGC	-	pfam_COX7C/Cox8		0.577	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	COX7C	protein_coding	OTTHUMT00000369746.1	G	NM_001867	-		85913886	1	no_errors	ENST00000247655	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85913886	G	T	85913886	3	4	99	1	0	0	0	0	1	0	0	0	3786	971	34	3	16	3	COX7C	5	85913886	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	6562142	85913886	95001374	25	5722											
GABRA1	2554	genome.wustl.edu	37	chr5	161309663	161309663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtctaaaccagtatgaccTtcttggacaaacagtagact	7	10	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr5:161309663T>C	ENST00000428797.2	+	8	1014	c.659T>C	c.(658-660)cTt>cCt	p.L220P	GABRA1_ENST00000420560.1_Missense_Mutation_p.L220P|GABRA1_ENST00000444819.1_Missense_Mutation_p.L220P|GABRA1_ENST00000393943.4_Missense_Mutation_p.L220P|GABRA1_ENST00000437025.2_Missense_Mutation_p.L220P|GABRA1_ENST00000023897.6_Missense_Mutation_p.L220P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	220					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGTATGACCTTCTTGGACAA	0.408																																																	0								ENSG00000022355						151	132	138					5																	161309663		2203	4300	6503	GABRA1	SO:0001583	missense	0			-	HGNC		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.659T>C	5.37:g.161309663T>C	ENSP00000393097:p.Leu220Pro	Somatic	0	55	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	D3DQK6|Q8N629	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L220P	ENST00000428797.2	37	c.659	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595512	0.86953	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93435	0.6789	10	0.87932	D	0	.	15.6069	0.76679	0.0:0.0:0.0:1.0	.	220	P14867	GBRA1_HUMAN	P	220	ENSP00000023897:L220P;ENSP00000393097:L220P;ENSP00000377517:L220P;ENSP00000415441:L220P;ENSP00000408041:L220P;ENSP00000414232:L220P	ENSP00000023897:L220P	L	+	2	0	GABRA1	161242241	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.903000	0.87398	2.146000	0.66826	0.528000	0.53228	CTT	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	protein_coding	OTTHUMT00000252702.2	T	NM_000806.5	-		161309663	1	no_errors	ENST00000023897	ensembl	human	known	74_37	missense	SNP	1.000	C	C	161309663	T	C	161309663	3	2	99	1	0	0	0	0	1	0	0	0	6162	1609	56	5	681	5	GABRA1	5	161309663	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	75395777	161309663	19605597	26	5723											
CDHR2	54825	genome.wustl.edu	37	chr5	176002819	176002819	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctggaggcggatgaGgaggtgcagctgcaggtcac	18	9	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr5:176002819G>C	ENST00000510636.1	+	11	1213	c.939G>C	c.(937-939)gaG>gaC	p.E313D	CDHR2_ENST00000261944.5_Missense_Mutation_p.E313D|CDHR2_ENST00000506348.1_Missense_Mutation_p.E313D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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						AGGCGGATGAGGAGGTGCAGC	0.632																																																	0								ENSG00000074276						28	25	26					5																	176002819		2180	4247	6427	CDHR2	SO:0001583	missense	0			-	HGNC	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.939G>C	5.37:g.176002819G>C	ENSP00000424565:p.Glu313Asp	Somatic	0	48	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E313D	ENST00000510636.1	37	c.939	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246322	0.22796	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60920	0.15;0.15;0.15	4.4	1.32	0.21799	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41373	0.1156	L	0.31926	0.97	0.46078	D	0.998852	B	0.25521	0.128	B	0.28553	0.091	T	0.09773	-1.0659	9	0.17832	T	0.49	-31.6127	8.2664	0.31817	0.3166:0.0:0.6834:0.0	.	313	Q9BYE9	CDHR2_HUMAN	D	313	ENSP00000424565:E313D;ENSP00000261944:E313D;ENSP00000421078:E313D	ENSP00000261944:E313D	E	+	3	2	CDHR2	175935425	1.000000	0.71417	0.989000	0.46669	0.569000	0.35902	0.647000	0.24812	0.461000	0.27071	0.549000	0.68633	GAG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	protein_coding	OTTHUMT00000372201.1	G	NM_017675	-		176002819	1	no_errors	ENST00000261944	ensembl	human	known	74_37	missense	SNP	0.999	C	C	176002819	G	C	176002819	3	2	99	1	0	0	0	0	1	0	0	0	3121	991	35	4	977	4	CDHR2	5	176002819	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	14693156	176002819	4912441	27	5724											
OR2B2	81697	genome.wustl.edu	37	chr6	27879447	27879447	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttggacaataaaagcataCgatataaggatgagtgtcac	10	6	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr6:27879447C>A	ENST00000303324.2	-	1	727	c.651G>T	c.(649-651)tcG>tcT	p.S217S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TAAAAGCATACGATATAAGGA	0.433																																																	0								ENSG00000168131						126	112	117					6																	27879447		2203	4300	6503	OR2B2	SO:0001819	synonymous_variant	0			-	HGNC	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.651G>T	6.37:g.27879447C>A		Somatic	0	36	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B2RNH2|Q9GZL2|Q9Y299	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217	ENST00000303324.2	37	c.651	CCDS4641.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B2	protein_coding	OTTHUMT00000040163.1	C		-		27879447	-1	no_errors	ENST00000303324	ensembl	human	known	74_37	silent	SNP	0.000	A	A	27879447	C	A	27879447	2	1	99	1	0	0	0	0	0	0	0	1	10991	523	19	3		3	OR2B2	6	27879447	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		27879447	143235620	28	5725											
ZNF323	64288	genome.wustl.edu	37	chr6	28297405	28297405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttcttggtcccagataGggtcttcctccactttcaca	9	12	3	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr6:28297405G>A	ENST00000414429.1	-	6	959	c.56C>T	c.(55-57)cCt>cTt	p.P19L	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.P19L|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.P19L|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.P19L|ZSCAN31_ENST00000446474.1_Intron			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	19					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)										GTCCCAGATAGGGTCTTCCTC	0.463																																																	0								ENSG00000235109						84	82	83					6																	28297405		2203	4300	6503	ZSCAN31	SO:0001583	missense	0			-	HGNC		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.56C>T	6.37:g.28297405G>A	ENSP00000390076:p.Pro19Leu	Somatic	0	62	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	35	37.50	Q6P178|Q8WWS5	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P19L	ENST00000414429.1	37	c.56	CCDS4649.1	6	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299958	0.05532	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036;ENST00000444081	T;T;T;T;T;T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;4.44;4.38;4.16;3.82;3.71;3.58	4.09	-3.73	0.04398	.	.	.	.	.	T	0.01254	0.0041	M	0.63428	1.95	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.49688	-0.8913	9	0.10377	T	0.69	.	0.3738	0.00384	0.3697:0.138:0.2119:0.2804	.	19	Q96LW9	ZN323_HUMAN	L	19	ENSP00000380050:P19L;ENSP00000413705:P19L;ENSP00000390076:P19L;ENSP00000345339:P19L;ENSP00000389479:P19L;ENSP00000412519:P19L;ENSP00000416108:P19L;ENSP00000406376:P19L;ENSP00000411033:P19L;ENSP00000416225:P19L	ENSP00000345339:P19L	P	-	2	0	ZNF323	28405384	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.361000	0.07612	-0.763000	0.04658	-0.222000	0.12452	CCT	-	NULL		0.463	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZSCAN31	protein_coding	OTTHUMT00000346804.1	G	NM_030899	-		28297405	-1	no_errors	ENST00000344279	ensembl	human	known	74_37	missense	SNP	0.000	A	A	28297405	G	A	28297405	3	1	99	1	0	0	0	0	1	0	0	0	17850	1000	35	2	1176	2	ZNF323	6	28297405	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	417958	28297405	142817662	29	5726											
PHF1	5252	genome.wustl.edu	37	chr6	33380050	33380050	+	Frame_Shift_Del	DEL	C	C	-													cccaggatgcaatggcgcagCccccccggctgagccgctct							TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr6:33380050delC	ENST00000374516.3	+	2	281	c.10delC	c.(10-12)cccfs	p.P5fs	PHF1_ENST00000374512.3_Frame_Shift_Del_p.P5fs|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	5					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				AATGGCGCAGCCCCCCCGGCT	0.567																																																	0								ENSG00000112511						23	25	25					6																	33380050		2203	4300	6503	PHF1	SO:0001589	frameshift_variant	0				HGNC	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.10delC	6.37:g.33380050delC	ENSP00000363640:p.Pro5fs	Somatic	0	26	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R6fs	ENST00000374516.3	37	c.10	CCDS4777.1	6																																																																																			-	NULL		0.567	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	protein_coding	OTTHUMT00000076175.3	C				33380050	1	no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	33380050	C	-	33380050	7	5	99	1	0	1	0	1	0	0	0	0	11822	739	26	0	12	0	PHF1	6	33380050	Frame_Shift_Del	DEL	C	TCGA-DX-A8BM-01A-11D-A417-09	5082645	33380050	137735017	30	5727											
DNAH8	1769	genome.wustl.edu	37	chr6	38705605	38705605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctagaataagtattgagGgaacagtgaagttaaagaca	12	3	0	4			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr6:38705605G>A	ENST00000359357.3	+	5	576	c.322G>A	c.(322-324)Gga>Aga	p.G108R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G108R|DNAH8_ENST00000449981.2_Missense_Mutation_p.G325R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	108					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGTATTGAGGGAACAGTGAA	0.259																																																	0								ENSG00000124721						80	82	82					6																	38705605		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.322G>A	6.37:g.38705605G>A	ENSP00000352312:p.Gly108Arg	Somatic	0	57	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G108R	ENST00000359357.3	37	c.322		6	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277710	0.40294	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26373	1.76;1.76;1.74	5.74	5.74	0.90152	.	0.062577	0.64402	D	0.000004	T	0.20659	0.0497	M	0.61703	1.905	0.51482	D	0.999922	B	0.12013	0.005	B	0.19391	0.025	T	0.02184	-1.1199	10	0.62326	D	0.03	.	18.0855	0.89456	0.0:0.0:1.0:0.0	.	108	Q96JB1	DYH8_HUMAN	R	313;313;108;108	ENSP00000333363:G313R;ENSP00000352312:G108R;ENSP00000402294:G108R	ENSP00000333363:G313R	G	+	1	0	DNAH8	38813583	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.472000	0.60189	2.695000	0.91970	0.585000	0.79938	GGA	-	NULL		0.259	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38705605	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38705605	G	A	38705605	3	1	99	1	0	0	0	0	1	0	0	0	4609	1233	43	2	332	2	DNAH8	6	38705605	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	5325555	38705605	132409462	31	5728											
MDN1	23195	genome.wustl.edu	37	chr6	90450009	90450009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctagaatacgaaatttttTcccagcagtcaacagctcta	6	10	2	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr6:90450009T>C	ENST00000369393.3	-	32	4652	c.4537A>G	c.(4537-4539)Aaa>Gaa	p.K1513E	MDN1_ENST00000428876.1_Missense_Mutation_p.K1513E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1513					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CGAAATTTTTTCCCAGCAGTC	0.393																																																	0								ENSG00000112159						120	116	118					6																	90450009		2203	4300	6503	MDN1	SO:0001583	missense	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4537A>G	6.37:g.90450009T>C	ENSP00000358400:p.Lys1513Glu	Somatic	0	56	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	51	46.32	O15019|Q5T794	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.K1513E	ENST00000369393.3	37	c.4537	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624742	0.28889	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39229	1.09;1.09	5.25	4.07	0.47477	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.154798	0.56097	D	0.000022	T	0.05593	0.0147	N	0.01779	-0.725	0.32731	N	0.508974	B	0.16603	0.018	B	0.24701	0.055	T	0.28964	-1.0027	10	0.05620	T	0.96	.	12.5888	0.56432	0.0:0.0:0.1389:0.861	.	1513	Q9NU22	MDN1_HUMAN	E	1513	ENSP00000358400:K1513E;ENSP00000413970:K1513E	ENSP00000358400:K1513E	K	-	1	0	MDN1	90506730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.993000	0.29680	0.922000	0.37019	0.462000	0.41574	AAA	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	T		-		90450009	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	SNP	0.992	C	C	90450009	T	C	90450009	3	2	99	1	0	0	0	0	1	0	0	0	9417	1792	62	5	12537	5	MDN1	6	90450009	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	51744404	90450009	80665058	32	5729											
CLIP2	7461	genome.wustl.edu	37	chr7	73814723	73814723	+	Missense_Mutation	SNP	T	T	A													aaagagaaatccctgtcggaTcagaggcgctactccctcat							TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr7:73814723T>A	ENST00000395060.1	+	14	2904	c.2904T>A	c.(2902-2904)gaT>gaA	p.D968E	CLIP2_ENST00000223398.6_Missense_Mutation_p.D968E|CLIP2_ENST00000361545.5_Missense_Mutation_p.D933E			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	968						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						CCCTGTCGGATCAGAGGCGCT	0.612																																																	0								ENSG00000106665						83	79	81					7																	73814723		2203	4300	6503	CLIP2	SO:0001583	missense	0			-	HGNC	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.2904T>A	7.37:g.73814723T>A	ENSP00000378500:p.Asp968Glu	Somatic	0	42	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	O14527|O43611	Missense_Mutation	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.D968E	ENST00000395060.1	37	c.2904	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	T	5.616	0.298435	0.10622	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.58506	0.36;0.33;0.36	4.72	-9.44	0.00603	.	0.407157	0.26293	N	0.025211	T	0.20536	0.0494	N	0.12746	0.255	0.29035	N	0.885476	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.003	T	0.45101	-0.9284	10	0.02654	T	1	-12.0682	4.2079	0.10497	0.1529:0.34:0.4:0.1071	.	933;968	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	E	968;968;933;968	ENSP00000223398:D968E;ENSP00000355151:D933E;ENSP00000378500:D968E	ENSP00000223398:D968E	D	+	3	2	CLIP2	73452659	0.008000	0.16893	0.353000	0.25747	0.880000	0.50808	-1.094000	0.03359	-1.474000	0.01879	-0.474000	0.04947	GAT	-	NULL		0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	T	NM_003388	-		73814723	1	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	SNP	0.618	A	A	73814723	T	A	73814723	3	1	99	1	0	0	0	0	1	0	0	0	3535	1432	50	5	2958	5	CLIP2	7	73814723	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09		73814723	85323940	33	5730	64	2									
CLIP2	7461	genome.wustl.edu	37	chr7	73814724	73814724	+	Nonsense_Mutation	SNP	C	C	T													aagagaaatccctgtcggatCagaggcgctactccctcatc							TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr7:73814724C>T	ENST00000395060.1	+	14	2905	c.2905C>T	c.(2905-2907)Cag>Tag	p.Q969*	CLIP2_ENST00000223398.6_Nonsense_Mutation_p.Q969*|CLIP2_ENST00000361545.5_Nonsense_Mutation_p.Q934*			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	969						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						CCTGTCGGATCAGAGGCGCTA	0.612																																																	0								ENSG00000106665						83	79	80					7																	73814724		2203	4300	6503	CLIP2	SO:0001587	stop_gained	0			-	HGNC	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.2905C>T	7.37:g.73814724C>T	ENSP00000378500:p.Gln969*	Somatic	0	42	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64	O14527|O43611	Nonsense_Mutation	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.Q969*	ENST00000395060.1	37	c.2905	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	C	42	9.587283	0.99213	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.	.	.	4.72	4.72	0.59763	.	0.299370	0.33631	N	0.004706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-40.2164	16.3226	0.82956	0.0:1.0:0.0:0.0	.	.	.	.	X	969;969;934;969	.	ENSP00000223398:Q969X	Q	+	1	0	CLIP2	73452660	1.000000	0.71417	0.947000	0.38551	0.899000	0.52679	7.124000	0.77185	2.191000	0.70037	0.456000	0.33151	CAG	-	NULL		0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	C	NM_003388	-		73814724	1	no_errors	ENST00000223398	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	73814724	C	T	73814724	4	4	99	1	0	0	0	0	0	1	0	0	3535	827	29	2	2959	2	CLIP2	7	73814724	Nonsense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	1	73814724	85323939	34	5731	64	2									
TFR2	7036	genome.wustl.edu	37	chr7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagcagggctagctgaCgccggaaacggctctcctgg	16	11	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGCTAGCTGACGCCGGAAACG	0.657																																																	0								ENSG00000106327						31	29	30					7																	100218565		2203	4300	6503	TFR2	SO:0001583	missense	0			-	HGNC	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2321G>A	7.37:g.100218565C>T	ENSP00000420525:p.Arg774His	Somatic	0	47	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP							pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.R774H	ENST00000462107.1	37	c.2321	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634411	0.87660	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.60171	0.21;0.21;0.21	5.54	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.114726	0.53938	D	0.000050	T	0.61776	0.2374	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59852	-0.7376	10	0.48119	T	0.1	-12.2735	10.5447	0.45054	0.0:0.9109:0.0:0.0891	.	774	Q9UP52	TFR2_HUMAN	H	774;774;315	ENSP00000223051:R774H;ENSP00000420525:R774H;ENSP00000443656:R315H	ENSP00000223051:R774H	R	-	2	0	TFR2	100056501	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.281000	0.18810	2.890000	0.99128	0.650000	0.86243	CGT	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	protein_coding	OTTHUMT00000356392.3	C	NM_003227	-		100218565	-1	no_errors	ENST00000223051	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100218565	C	T	100218565	3	4	99	1	0	0	0	0	1	0	0	0	15818	536	19	1	88	1	TFR2	7	100218565	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	26403841	100218565	58920098	35	5732											
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138429926	138429926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagagccaaagatgttcaAggacttggagaagcagtcat	12	6	2	4			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr7:138429926A>G	ENST00000310018.2	-	14	1702	c.1420T>C	c.(1420-1422)Ttg>Ctg	p.L474L	ATP6V0A4_ENST00000393054.1_Silent_p.L474L|ATP6V0A4_ENST00000353492.4_Silent_p.L474L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	474					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAGATGTTCAAGGACTTGGAG	0.488																																																	0								ENSG00000105929						189	165	173					7																	138429926		2203	4300	6503	ATP6V0A4	SO:0001819	synonymous_variant	0			-	HGNC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1420T>C	7.37:g.138429926A>G		Somatic	0	45	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	39	45.21	A4D1R4|A8KA80|Q32M47	Silent	SNP							pfam_V-ATPase_116kDa_su	p.L474	ENST00000310018.2	37	c.1420	CCDS5849.1	7																																																																																			-	pfam_V-ATPase_116kDa_su		0.488	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	protein_coding	OTTHUMT00000347514.1	A	NM_020632	-		138429926	-1	no_errors	ENST00000310018	ensembl	human	known	74_37	silent	SNP	0.009	G	G	138429926	A	G	138429926	2	3	99	1	0	0	0	0	0	0	0	1	1170	69	3	5		5	ATP6V0A4	7	138429926	Silent	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09	38211361	138429926	20708737	36	5733											
C8orf42	157695	genome.wustl.edu	37	chr8	442474	442474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccagcctccctgccgcGcgcaggctccacctggagct	10	20	1	0	rs375957326		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr8:442474G>A	ENST00000324079.6	-	3	723	c.483C>T	c.(481-483)cgC>cgT	p.R161R	TDRP_ENST00000524229.1_5'Flank|TDRP_ENST00000427263.2_Silent_p.R161R|TDRP_ENST00000523656.1_Silent_p.R161R			Q86YL5	TDRP_HUMAN	testis development related protein	161					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCCTGCCGCGCGCAGGCTCC	0.672																																																	0								ENSG00000180190	G		0,4028		0,0,2014	16	19	18		483	1.7	0	8		18	2,8336		0,2,4167	no	coding-synonymous	C8orf42	NM_175075.3		0,2,6181	AA,AG,GG		0.024,0.0,0.0162		161/186	442474	2,12364	2014	4169	6183	TDRP	SO:0001819	synonymous_variant	0			-	HGNC	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 42"	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.483C>T	8.37:g.442474G>A		Somatic	0	27	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	24	54.72	B6VF03|B9EG53	Silent	SNP							NULL	p.R161	ENST00000324079.6	37	c.483	CCDS47759.1	8																																																																																			-	NULL		0.672	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRP	protein_coding	OTTHUMT00000374442.1	G	NM_175075	-		442474	-1	no_errors	ENST00000427263	ensembl	human	known	74_37	silent	SNP	0.353	A	A	442474	G	A	442474	2	1	99	1	0	0	0	0	0	0	0	1	2430	1074	38	1		1	C8orf42	8	442474	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		442474	145921548	37	5734											
ADAMDEC1	27299	genome.wustl.edu	37	chr8	24254877	24254877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttacatctaaccaggagGaacaagacccagctaaccac	6	13	2	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr8:24254877G>A	ENST00000256412.4	+	6	755	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E100K|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.E100K|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	179					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAACCAGGAGGAACAAGACCC	0.458																																					Ovarian(147;687 1849 3699 25981 31337)												0								ENSG00000134028						221	213	216					8																	24254877		2203	4300	6503	ADAMDEC1	SO:0001583	missense	0			-	HGNC	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.535G>A	8.37:g.24254877G>A	ENSP00000256412:p.Glu179Lys	Somatic	0	49	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B7ZAK5	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E179K	ENST00000256412.4	37	c.535	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893755	0.33442	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.02656	4.21;4.22;4.22	5.53	4.65	0.58169	.	0.312065	0.27595	N	0.018665	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.37267	0.245	T	0.50162	-0.8860	10	0.11182	T	0.66	-14.8166	12.4375	0.55608	0.0:0.1684:0.8316:0.0	.	179	O15204	ADEC1_HUMAN	K	179;100;100	ENSP00000256412:E179K;ENSP00000442592:E100K;ENSP00000428993:E100K	ENSP00000256412:E179K	E	+	1	0	ADAMDEC1	24310822	0.761000	0.28439	0.016000	0.15963	0.033000	0.12548	3.368000	0.52357	1.325000	0.45301	0.557000	0.71058	GAA	-	NULL		0.458	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	protein_coding	OTTHUMT00000215149.2	G	NM_014479	-		24254877	1	no_errors	ENST00000256412	ensembl	human	known	74_37	missense	SNP	0.073	A	A	24254877	G	A	24254877	3	1	99	1	0	0	0	0	1	0	0	0	254	1175	41	2	557	2	ADAMDEC1	8	24254877	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	23812403	24254877	122109145	38	5735											
UBXN8	7993	genome.wustl.edu	37	chr8	30601706	30601706	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggcgcttccgccacCatggcttcacgtggggttgt	13	14	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr8:30601706C>T	ENST00000519246.1	+	0	16							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						CTTCCGCCACCATGGCTTCAC	0.627																																					Colon(169;855 1943 17895 39459 47884)												0								ENSG00000104691						69	72	71					8																	30601706		1916	4124	6040	UBXN8			0			-	HGNC	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"UBX domain containing"	30307	protein-coding gene	gene with protein product		602155	"UBX domain containing 6"	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30601706C>T		Somatic	0	37	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	27	35.71	Q7Z6F2	RNA	SNP							-	NULL	ENST00000519246.1	37	NULL		8																																																																																			-	-		0.627	UBXN8-001	KNOWN	basic	processed_transcript	UBXN8	processed_transcript	OTTHUMT00000375957.1	C	NM_005671	-		30601706	1	no_errors	ENST00000265616	ensembl	human	known	74_37	rna	SNP	0.193	T	T	30601706	C	T	30601706	1	4	99	0	1	0	0	0	0	0	0	0	16926	609	21	2		2	UBXN8	8	30601706	RNA	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	6346829	30601706	115762316	39	5736											
PXDNL	137902	genome.wustl.edu	37	chr8	52287285	52287285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtcacctggagagccGtacaacctggaacagagaca	10	11	2	2	rs376124066		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr8:52287285G>A	ENST00000356297.4	-	18	3664	c.3564C>T	c.(3562-3564)taC>taT	p.Y1188Y	PXDNL_ENST00000543296.1_Silent_p.Y1188Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1188					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)			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)				CTGGAGAGCCGTACAACCTGG	0.478																																																	0								ENSG00000147485	G		1,4053		0,1,2026	55	55	55		3564	-6.1	0	8		55	0,8396		0,0,4198	no	coding-synonymous	PXDNL	NM_144651.4		0,1,6224	AA,AG,GG		0.0,0.0247,0.0080		1188/1464	52287285	1,12449	2027	4198	6225	PXDNL	SO:0001819	synonymous_variant	0			-	HGNC		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.3564C>T	8.37:g.52287285G>A		Somatic	0	51	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	18	66.04	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Y1188	ENST00000356297.4	37	c.3564	CCDS47855.1	8																																																																																			-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal		0.478	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	G	NM_144651	-		52287285	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	silent	SNP	0.001	A	A	52287285	G	A	52287285	2	1	99	1	0	0	0	0	0	0	0	1	12856	1140	40	1		1	PXDNL	8	52287285	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	21685579	52287285	94076737	40	5737											
PREX2	80243	genome.wustl.edu	37	chr8	69028127	69028127	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagcaggagatgaacaggaaGattctggtcatgacaccatc	11	8	2	4			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr8:69028127G>T	ENST00000288368.4	+	26	3563	c.3286G>T	c.(3286-3288)Gat>Tat	p.D1096Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1096					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAACAGGAAGATTCTGGTCA	0.383																																																	0								ENSG00000046889						175	168	170					8																	69028127		2203	4300	6503	PREX2	SO:0001583	missense	0			-	HGNC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3286G>T	8.37:g.69028127G>T	ENSP00000288368:p.Asp1096Tyr	Somatic	0	41	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP							pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D1096Y	ENST00000288368.4	37	c.3286	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811959	0.90707	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.48836	0.8	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68334	-0.5436	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1096	Q70Z35	PREX2_HUMAN	Y	1096;1099	ENSP00000288368:D1096Y	ENSP00000288368:D1096Y	D	+	1	0	PREX2	69190681	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.329000	0.96413	2.937000	0.99478	0.650000	0.86243	GAT	-	NULL		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	protein_coding	OTTHUMT00000378620.1	G	NM_025170	-		69028127	1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69028127	G	T	69028127	3	4	99	1	0	0	0	0	1	0	0	0	12482	942	33	3	3617	3	PREX2	8	69028127	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	16740842	69028127	77335895	41	5738											
VPS13A	23230	genome.wustl.edu	37	chr9	79897094	79897094	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttctgaatacaataAattatcttcataatatcctt	2	8	3	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr9:79897094A>C	ENST00000360280.3	+	29	3282	c.3022A>C	c.(3022-3024)Aat>Cat	p.N1008H	VPS13A_ENST00000376634.4_Missense_Mutation_p.N1008H|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1008H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1008H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1008					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.N1008H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATACAATAAATTATCTTCA	0.323																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000197969						70	75	73					9																	79897094		2202	4295	6497	VPS13A	SO:0001583	missense	0			-	HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3022A>C	9.37:g.79897094A>C	ENSP00000353422:p.Asn1008His	Somatic	0	86	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	69	25.81	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.N1008H	ENST00000360280.3	37	c.3022	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117240	0.56505	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.18	4.02	0.46733	.	0.053759	0.64402	D	0.000001	T	0.38904	0.1058	M	0.69823	2.125	0.80722	D	1	P;P;D;P	0.56521	0.659;0.811;0.976;0.881	P;P;P;P	0.57960	0.694;0.602;0.83;0.776	T	0.20840	-1.0263	10	0.66056	D	0.02	.	11.836	0.52323	0.853:0.147:0.0:0.0	.	1008;1008;1008;1008	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	1008	ENSP00000365821:N1008H;ENSP00000365823:N1008H;ENSP00000353422:N1008H;ENSP00000349985:N1008H	ENSP00000349985:N1008H	N	+	1	0	VPS13A	79086914	1.000000	0.71417	0.987000	0.45799	0.694000	0.40290	7.449000	0.80643	0.791000	0.33826	-0.460000	0.05396	AAT	-	NULL		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	A	NM_015186	-		79897094	1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	SNP	1.000	C	C	79897094	A	C	79897094	3	2	99	1	0	0	0	0	1	0	0	0	17196	14	1	5	3136	5	VPS13A	9	79897094	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09		79897094	61316337	42	5739											
ALDOB	229	genome.wustl.edu	37	chr9	104193131	104193131	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaatttctgagagctccttCttctgctcctgggtgagggc	12	11	3	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr9:104193131C>A	ENST00000374855.4	-	2	163	c.39G>T	c.(37-39)aaG>aaT	p.K13N	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	13					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGAGCTCCTTCTTCTGCTCCT	0.517																																																	0								ENSG00000136872						109	94	99					9																	104193131		2203	4300	6503	ALDOB	SO:0001583	missense	0			-	HGNC	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.39G>T	9.37:g.104193131C>A	ENSP00000363988:p.Lys13Asn	Somatic	0	30	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP							pfam_Aldolase_I	p.K13N	ENST00000374855.4	37	c.39	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442087	0.83993	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86164	-2.08	6.17	4.33	0.51752	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.83774	2.66	0.27288	N	0.957928	D	0.57257	0.979	P	0.58660	0.843	D	0.86906	0.2057	10	0.87932	D	0	-16.2921	12.4895	0.55891	0.0:0.8641:0.0:0.1359	.	13	P05062	ALDOB_HUMAN	N	13	ENSP00000363988:K13N	ENSP00000363986:K13N	K	-	3	2	ALDOB	103232952	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.100000	0.57762	1.631000	0.50456	0.655000	0.94253	AAG	-	NULL		0.517	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	protein_coding	OTTHUMT00000053434.2	C		-		104193131	-1	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104193131	C	A	104193131	3	1	99	1	0	0	0	0	1	0	0	0	508	912	32	3	1087	3	ALDOB	9	104193131	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	24296037	104193131	37020300	43	5740											
PNPLA7	375775	genome.wustl.edu	37	chr9	140395146	140395146	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcccgtgggactcactcaTagaagtgggccttggagatg	15	9	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr9:140395146T>C	ENST00000277531.4	-	15	1865	c.1679A>G	c.(1678-1680)tAt>tGt	p.Y560C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.Y166C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.Y585C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	560					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)			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)		GACTCACTCATAGAAGTGGGC	0.677																																																	0								ENSG00000130653						70	54	59					9																	140395146		2196	4284	6480	PNPLA7	SO:0001583	missense	0			-	HGNC	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.1679A>G	9.37:g.140395146T>C	ENSP00000277531:p.Tyr560Cys	Somatic	0	54	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	82	23.36	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Y585C	ENST00000277531.4	37	c.1754	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458126	0.84317	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	4.76	4.76	0.60689	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96081	0.8723	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.96682	0.9504	10	0.87932	D	0	.	13.7287	0.62774	0.0:0.0:0.0:1.0	.	585;560	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	C	166;560;585;560;551	ENSP00000360512:Y166C;ENSP00000277531:Y560C;ENSP00000384610:Y585C;ENSP00000400582:Y551C	ENSP00000277531:Y560C	Y	-	2	0	PNPLA7	139514967	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.627000	0.83176	1.899000	0.54978	0.379000	0.24179	TAT	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	T	NM_152286	-		140395146	-1	no_errors	ENST00000406427	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140395146	T	C	140395146	3	2	99	1	0	0	0	0	1	0	0	0	12172	1406	49	5	2354	5	PNPLA7	9	140395146	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	36202015	140395146	818285	44	5741											
PARD3	56288	genome.wustl.edu	37	chr10	35103843	35103843	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagcgggtcaccgcctgctgGatgaggctgaaaactttcat	12	10	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr10:35103843G>T	ENST00000374789.3	-	1	406	c.81C>A	c.(79-81)atC>atA	p.I27I	PARD3_ENST00000374776.1_Silent_p.I27I|PARD3_ENST00000340077.5_Silent_p.I27I|PARD3_ENST00000374788.3_Silent_p.I27I|PARD3_ENST00000374773.1_Silent_p.I27I|PARD3_ENST00000545260.1_Silent_p.I27I|PARD3_ENST00000545693.1_Silent_p.I27I|PARD3_ENST00000346874.4_Silent_p.I27I|PARD3_ENST00000374790.3_Silent_p.I27I|PARD3_ENST00000350537.4_Silent_p.I27I|PARD3-AS1_ENST00000446211.1_RNA|PARD3_ENST00000374794.3_Silent_p.I27I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	27					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)			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)				CCGCCTGCTGGATGAGGCTGA	0.731																																																	0								ENSG00000148498						10	9	9					10																	35103843		2176	4241	6417	PARD3	SO:0001819	synonymous_variant	0			-	HGNC	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.81C>A	10.37:g.35103843G>T		Somatic	0	24	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP							pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I27	ENST00000374789.3	37	c.81	CCDS7178.1	10																																																																																			-	pfam_DUF3534		0.731	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	protein_coding	OTTHUMT00000047527.1	G	NM_019619	-		35103843	-1	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	SNP	1.000	T	T	35103843	G	T	35103843	2	4	99	1	0	0	0	0	0	0	0	1	11445	1164	41	3		3	PARD3	10	35103843	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		35103843	100430904	45	5742											
ALOX5	240	genome.wustl.edu	37	chr10	45939709	45939709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctgggtgcagtgtgggCgctgagccagttccaggaaa	16	9	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr10:45939709C>T	ENST00000374391.2	+	13	1873	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Intron	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	607	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)	GCAGTGTGGGCGCTGAGCCAG	0.667																																																	0								ENSG00000012779						14	14	14					10																	45939709		2144	4213	6357	ALOX5	SO:0001583	missense	0			-	HGNC	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.1820C>T	10.37:g.45939709C>T	ENSP00000363512:p.Ala607Val	Somatic	0	99	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	86	25	77.48	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.A607V	ENST00000374391.2	37	c.1820	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102526	0.56183	.	.	ENSG00000012779	ENST00000374391	D	0.89196	-2.48	4.91	4.91	0.64330	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.60236	0.846;0.871	D	0.87271	0.2286	10	0.27082	T	0.32	-34.4302	15.6441	0.77033	0.0:1.0:0.0:0.0	.	575;607	E5FPY8;P09917	.;LOX5_HUMAN	V	607	ENSP00000363512:A607V	ENSP00000363512:A607V	A	+	2	0	ALOX5	45259715	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	7.651000	0.83577	2.559000	0.86315	0.650000	0.86243	GCG	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.667	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	C		-		45939709	1	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45939709	C	T	45939709	3	4	99	1	0	0	0	0	1	0	0	0	540	768	27	1	1870	1	ALOX5	10	45939709	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	10835866	45939709	89595038	46	5743											
RHOBTB1	9886	genome.wustl.edu	37	chr10	62648024	62648024	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgattggctttccttacgtGaaaggctttcgtaatctcct	8	11	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr10:62648024G>A	ENST00000337910.5	-	6	1739	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.H468Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	468					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTCCTTACGTGAAAGGCTTTC	0.478																																																	0								ENSG00000072422						104	97	99					10																	62648024		2203	4300	6503	RHOBTB1	SO:0001583	missense	0			-	HGNC	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1402C>T	10.37:g.62648024G>A	ENSP00000338671:p.His468Tyr	Somatic	0	33	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	56	11.11		Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.H468Y	ENST00000337910.5	37	c.1402	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724120	0.89298	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.16597	2.33;2.33	5.75	5.75	0.90469	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39292	-0.9621	10	0.59425	D	0.04	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	468	O94844	RHBT1_HUMAN	Y	468	ENSP00000350595:H468Y;ENSP00000338671:H468Y	ENSP00000338671:H468Y	H	-	1	0	RHOBTB1	62318030	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.803000	0.99136	2.719000	0.93026	0.655000	0.94253	CAC	-	superfamily_BTB/POZ_fold		0.478	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	protein_coding	OTTHUMT00000048220.1	G		-		62648024	-1	no_errors	ENST00000337910	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62648024	G	A	62648024	3	1	99	1	0	0	0	0	1	0	0	0	13341	1290	45	2	712	2	RHOBTB1	10	62648024	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	16708315	62648024	72886723	47	5744											
CDHR1	92211	genome.wustl.edu	37	chr10	85974228	85974228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgcagcccagtggaccGtgcctactgtctctggctct	12	15	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr10:85974228G>A	ENST00000372117.3	+	17	2534	c.2431G>A	c.(2431-2433)Gtg>Atg	p.V811M	CDHR1_ENST00000440770.2_Missense_Mutation_p.V515M|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	811	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCAGTGGACCGTGCCTACTGT	0.622																																																	0								ENSG00000148600						77	85	82					10																	85974228		2203	4300	6503	CDHR1	SO:0001583	missense	0			-	HGNC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2431G>A	10.37:g.85974228G>A	ENSP00000361189:p.Val811Met	Somatic	0	20	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	Q69YZ8|Q8IXY5	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V811M	ENST00000372117.3	37	c.2431	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788764	0.70337	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.64260	0.2;-0.09	5.49	5.49	0.81192	.	0.054530	0.64402	D	0.000001	T	0.75729	0.3889	M	0.72894	2.215	0.51767	D	0.99993	D;D	0.76494	0.999;0.999	P;D	0.63597	0.908;0.916	T	0.77928	-0.2404	10	0.66056	D	0.02	-17.0735	13.8265	0.63354	0.0:0.1537:0.8463:0.0	.	515;811	E7EN47;Q96JP9	.;CDHR1_HUMAN	M	811;515	ENSP00000361189:V811M;ENSP00000415980:V515M	ENSP00000361189:V811M	V	+	1	0	CDHR1	85964208	1.000000	0.71417	0.959000	0.39883	0.382000	0.30200	4.413000	0.59795	2.584000	0.87258	0.591000	0.81541	GTG	-	NULL		0.622	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	protein_coding	OTTHUMT00000049111.1	G	NM_033100	-		85974228	1	no_errors	ENST00000372117	ensembl	human	known	74_37	missense	SNP	0.997	A	A	85974228	G	A	85974228	3	1	99	1	0	0	0	0	1	0	0	0	3120	1145	40	1	2497	1	CDHR1	10	85974228	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	23326204	85974228	49560519	48	5745											
MUC5B	727897	genome.wustl.edu	37	chr11	1280228	1280228	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtacctgcctctctggGgacacccaggacccaacggt	11	14	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr11:1280228G>T	ENST00000529681.1	+	44	16708	c.16650G>T	c.(16648-16650)ggG>ggT	p.G5550G	MUC5B_ENST00000447027.1_Silent_p.G5553G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5550	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)		GCCTCTCTGGGGACACCCAGG	0.647																																																	0								ENSG00000117983						35	44	41					11																	1280228		1950	4100	6050	MUC5B	SO:0001819	synonymous_variant	0			-	HGNC	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.16650G>T	11.37:g.1280228G>T		Somatic	0	50	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G5553	ENST00000529681.1	37	c.16659	CCDS44515.2	11																																																																																			-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1280228	1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	SNP	0.000	T	T	1280228	G	T	1280228	2	4	99	1	0	0	0	0	0	0	0	1	9981	1219	43	3		3	MUC5B	11	1280228	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		1280228	133726288	49	5746											
DNHD1	144132	genome.wustl.edu	37	chr11	6555132	6555132	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgccccacagcttctGgatatgtgggaggcatttca	11	11	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr11:6555132G>T	ENST00000527990.2	+	12	2727	c.2727G>T	c.(2725-2727)ctG>ctT	p.L909L	DNHD1_ENST00000254579.6_Silent_p.L909L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	909					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGCTTCTGGATATGTGGG	0.567																																																	0								ENSG00000179532						99	95	96					11																	6555132		692	1591	2283	DNHD1	SO:0001819	synonymous_variant	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2727G>T	11.37:g.6555132G>T		Somatic	0	22	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP							pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.L909	ENST00000527990.2	37	c.2727	CCDS44532.1	11																																																																																			-	NULL		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	G	NM_144666	-		6555132	1	no_errors	ENST00000254579	ensembl	human	known	74_37	silent	SNP	0.450	T	T	6555132	G	T	6555132	2	4	99	1	0	0	0	0	0	0	0	1	4670	1335	47	3		3	DNHD1	11	6555132	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	5274904	6555132	128451384	50	5747											
GRIA4	2893	genome.wustl.edu	37	chr11	105795174	105795174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcactttggtacgagaggAggtcattgacttttctaagc	10	7	3	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr11:105795174A>G	ENST00000530497.1	+	11	1526	c.1526A>G	c.(1525-1527)gAg>gGg	p.E509G	GRIA4_ENST00000393127.2_Missense_Mutation_p.E509G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E509G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E509G			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	509					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTACGAGAGGAGGTCATTGAC	0.398																																																	0								ENSG00000152578						136	134	134					11																	105795174		2202	4299	6501	GRIA4	SO:0001583	missense	0			-	HGNC	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1526A>G	11.37:g.105795174A>G	ENSP00000435775:p.Glu509Gly	Somatic	0	55	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q86XE8	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E509G	ENST00000530497.1	37	c.1526	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560272	0.86335	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.56	5.56	0.83823	Ionotropic glutamate receptor (1);	0.067087	0.64402	D	0.000009	T	0.65616	0.2708	M	0.75150	2.29	0.80722	D	1	P;D	0.89917	0.76;1.0	B;D	0.87578	0.343;0.998	T	0.69734	-0.5065	10	0.87932	D	0	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	509;509	P48058;G3V164	GRIA4_HUMAN;.	G	509	ENSP00000282499:E509G;ENSP00000376835:E509G;ENSP00000435775:E509G;ENSP00000432180:E509G	ENSP00000282499:E509G	E	+	2	0	GRIA4	105300384	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.241000	0.73720	0.533000	0.62120	GAG	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	protein_coding	OTTHUMT00000388593.1	A		-		105795174	1	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	SNP	1.000	G	G	105795174	A	G	105795174	3	3	99	1	0	0	0	0	1	0	0	0	6772	304	11	5	1605	5	GRIA4	11	105795174	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09	99240042	105795174	29211342	51	5748											
ELMOD1	55531	genome.wustl.edu	37	chr11	107535878	107535878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacccagacatggcGctgtgcccacattttgctgc	10	14	0	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr11:107535878G>A	ENST00000265840.7	+	12	1225	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_ENST00000443271.2_Silent_p.A312A|ELMOD1_ENST00000531234.1_Silent_p.A314A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	320					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)		CAGACATGGCGCTGTGCCCAC	0.478																																																	0								ENSG00000110675						131	139	136					11																	107535878		2062	4204	6266	ELMOD1	SO:0001819	synonymous_variant	0			-	HGNC	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.960G>A	11.37:g.107535878G>A		Somatic	0	53	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	B4E167|G5E9S5|Q9NPW3	Silent	SNP							pfam_Engulfment_cell_motility_ELMO	p.A320	ENST00000265840.7	37	c.960	CCDS44723.1	11																																																																																			-	NULL		0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ELMOD1	protein_coding	OTTHUMT00000389406.1	G	NM_018712	-		107535878	1	no_errors	ENST00000265840	ensembl	human	known	74_37	silent	SNP	0.005	A	A	107535878	G	A	107535878	2	1	99	1	0	0	0	0	0	0	0	1	5070	1074	38	1		1	ELMOD1	11	107535878	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	1740704	107535878	27470638	52	5749											
ACAT1	38	genome.wustl.edu	37	chr11	108018022	108018022	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggagccaggattgttggtCatttgactcatgccttgaag	12	8	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr11:108018022C>A	ENST00000265838.4	+	12	1280	c.1189C>A	c.(1189-1191)Cat>Aat	p.H397N		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	397					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)	GATTGTTGGTCATTTGACTCA	0.388																																																	0			GRCh37	CM041981	ACAT1	M		ENSG00000075239						138	121	127					11																	108018022		2201	4298	6499	ACAT1	SO:0001583	missense	0			-	HGNC	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.1189C>A	11.37:g.108018022C>A	ENSP00000265838:p.His397Asn	Somatic	0	63	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP							pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.H397N	ENST00000265838.4	37	c.1189	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495427	0.85069	.	.	ENSG00000075239	ENST00000265838	D	0.92495	-3.05	5.87	5.87	0.94306	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.050357	0.85682	D	0.000000	D	0.95968	0.8687	M	0.72576	2.205	0.80722	D	1	D	0.63880	0.993	D	0.79784	0.993	D	0.95601	0.8663	10	0.66056	D	0.02	-16.258	20.2182	0.98305	0.0:1.0:0.0:0.0	.	397	P24752	THIL_HUMAN	N	397	ENSP00000265838:H397N	ENSP00000265838:H397N	H	+	1	0	ACAT1	107523232	1.000000	0.71417	0.243000	0.24186	0.773000	0.43773	7.539000	0.82063	2.785000	0.95823	0.655000	0.94253	CAT	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.388	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	protein_coding	OTTHUMT00000389474.1	C	NM_000019	-		108018022	1	no_errors	ENST00000265838	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108018022	C	A	108018022	3	1	99	1	0	0	0	0	1	0	0	0	121	826	29	3	1235	3	ACAT1	11	108018022	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	482144	108018022	26988494	53	5750											
PKP2	5318	genome.wustl.edu	37	chr12	32977078	32977078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcttttctcccatcagcGccagcagaactcatgtttct	6	14	4	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr12:32977078G>A	ENST00000070846.6	-	8	1731	c.1707C>T	c.(1705-1707)ggC>ggT	p.G569G	PKP2_ENST00000340811.4_Silent_p.G525G	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	569					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCCCATCAGCGCCAGCAGAAC	0.413																																																	0								ENSG00000057294						117	101	107					12																	32977078		2203	4300	6503	PKP2	SO:0001819	synonymous_variant	0			-	HGNC	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1707C>T	12.37:g.32977078G>A		Somatic	0	37	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G569	ENST00000070846.6	37	c.1707	CCDS8731.1	12																																																																																			-	superfamily_ARM-type_fold		0.413	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	protein_coding	OTTHUMT00000404449.1	G	NM_004572	-		32977078	-1	no_errors	ENST00000070846	ensembl	human	known	74_37	silent	SNP	0.996	A	A	32977078	G	A	32977078	2	1	99	1	0	0	0	0	0	0	0	1	11987	1074	38	1		1	PKP2	12	32977078	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		32977078	100874817	54	5751											
LRP1	4035	genome.wustl.edu	37	chr12	57593005	57593005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgcagtgctgagccaGgacatcccgcacatctttgc	11	15	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr12:57593005G>A	ENST00000243077.3	+	61	10153	c.9687G>A	c.(9685-9687)caG>caA	p.Q3229Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3229					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTGAGCCAGGACATCCCGC	0.617																																																	0								ENSG00000123384						295	274	281					12																	57593005		2203	4300	6503	LRP1	SO:0001819	synonymous_variant	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9687G>A	12.37:g.57593005G>A		Somatic	0	18	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.Q3229	ENST00000243077.3	37	c.9687	CCDS8932.1	12																																																																																			-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	G	NM_002332	-		57593005	1	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	SNP	0.999	A	A	57593005	G	A	57593005	2	1	99	1	0	0	0	0	0	0	0	1	8953	991	35	2		2	LRP1	12	57593005	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	24615927	57593005	76258890	55	5752			1	60		3	3	2280	G		2.088567e-05
LRP1	4035	genome.wustl.edu	37	chr12	57594262	57594262	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgcatccccttctggtGgaagtgtgacaccgaggacg	13	11	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr12:57594262G>A	ENST00000243077.3	+	63	10518	c.10052G>A	c.(10051-10053)tGg>tAg	p.W3351*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3351	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTTCTGGTGGAAGTGTGAC	0.627																																																	0								ENSG00000123384						48	45	46					12																	57594262		2203	4300	6503	LRP1	SO:0001587	stop_gained	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10052G>A	12.37:g.57594262G>A	ENSP00000243077:p.Trp3351*	Somatic	0	29	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.W3351*	ENST00000243077.3	37	c.10052	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	54	22.031832	0.99945	.	.	ENSG00000123384	ENST00000243077	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	.	.	.	X	3351	.	ENSP00000243077:W3351X	W	+	2	0	LRP1	55880529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.764000	0.85297	2.386000	0.81285	0.555000	0.69702	TGG	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	G	NM_002332	-		57594262	1	no_errors	ENST00000243077	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	57594262	G	A	57594262	4	1	99	1	0	0	0	0	0	1	0	0	8953	1357	47	2	10302	2	LRP1	12	57594262	Nonsense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	1257	57594262	76257633	56	5753			1	60		3	3	2280	G		2.088567e-05
LRP1	4035	genome.wustl.edu	37	chr12	57595284	57595284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccaccccacagccgaGgtgacctgcgcccccaacca	8	21	0	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr12:57595284G>A	ENST00000243077.3	+	66	10816	c.10350G>A	c.(10348-10350)gaG>gaA	p.E3450E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3450	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACAGCCGAGGTGACCTGCG	0.607																																																	0								ENSG00000123384						74	67	69					12																	57595284		2203	4300	6503	LRP1	SO:0001819	synonymous_variant	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10350G>A	12.37:g.57595284G>A		Somatic	0	47	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	44	34.33	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3450	ENST00000243077.3	37	c.10350	CCDS8932.1	12																																																																																			-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	G	NM_002332	-		57595284	1	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	SNP	0.997	A	A	57595284	G	A	57595284	2	1	99	1	0	0	0	0	0	0	0	1	8953	991	35	2		2	LRP1	12	57595284	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	1022	57595284	76256611	57	5754			1	60		3	3	2280	G		2.088567e-05
PPP1R12A	4659	genome.wustl.edu	37	chr12	80200022	80200022	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctggaaagcaggcttttctGaagcccagctgcagaggtaa	13	9	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr12:80200022G>T	ENST00000450142.2	-	13	2013	c.1747C>A	c.(1747-1749)Cag>Aag	p.Q583K	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.Q583K|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.Q583K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.Q496K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	583	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AGGCTTTTCTGAAGCCCAGCT	0.438																																																	0								ENSG00000058272						268	263	265					12																	80200022		1962	4154	6116	PPP1R12A	SO:0001583	missense	0			-	HGNC	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1747C>A	12.37:g.80200022G>T	ENSP00000389168:p.Gln583Lys	Somatic	0	52	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP							pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q583K	ENST00000450142.2	37	c.1747	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.093223|2.093223	0.36952|0.36952	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000547330	.|T;T;T;T;T	.|0.37058	.|1.32;1.32;1.34;1.35;1.22	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.638589	.|0.16904	.|N	.|0.194774	T|T	0.29652|0.29652	0.0740|0.0740	L|L	0.34521|0.34521	1.04|1.04	0.33532|0.33532	D|D	0.593691|0.593691	.|B;B;B	.|0.27732	.|0.187;0.187;0.118	.|B;B;B	.|0.29716	.|0.073;0.106;0.049	T|T	0.29274|0.29274	-1.0017|-1.0017	5|10	.|0.14252	.|T	.|0.57	.|.	15.1626|15.1626	0.72795|0.72795	0.0:0.1407:0.8593:0.0|0.0:0.1407:0.8593:0.0	.|.	.|583;583;583	.|F8W8Q6;O14974-2;O14974	.|.;.;MYPT1_HUMAN	L|K	174|583;583;583;583;583;583;496;583	.|ENSP00000261207:Q583K;ENSP00000389168:Q583K;ENSP00000416769:Q583K;ENSP00000449514:Q496K;ENSP00000446816:Q583K	.|ENSP00000261207:Q583K	F|Q	-|-	3|1	2|0	PPP1R12A|PPP1R12A	78724153|78724153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.185000|7.185000	0.77714|0.77714	2.641000|2.641000	0.89580|0.89580	0.591000|0.591000	0.81541|0.81541	TTC|CAG	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.438	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	protein_coding	OTTHUMT00000407254.2	G	NM_002480	-		80200022	-1	no_errors	ENST00000261207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80200022	G	T	80200022	3	4	99	1	0	0	0	0	1	0	0	0	12359	1299	45	3	1397	3	PPP1R12A	12	80200022	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	22604738	80200022	53651873	58	5755											
RB1	5925	genome.wustl.edu	37	chr13	48947546	48947546	+	Frame_Shift_Del	DEL	T	T	-													ttttatcccctctaggactgTtatgaacactatccaacaat							TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr13:48947546delT	ENST00000267163.4	+	12	1271	c.1133delT	c.(1132-1134)gttfs	p.V378fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	378	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCTAGGACTGTTATGAACACT	0.303		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139687						100	107	104					13																	48947546		2203	4293	6496	RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1133delT	13.37:g.48947546delT	ENSP00000267163:p.Val378fs	Somatic	0	36	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.M379fs	ENST00000267163.4	37	c.1133	CCDS31973.1	13																																																																																			-	pfam_RB_A		0.303	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	T				48947546	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	48947546	T	-	48947546	7	5	99	1	0	1	0	1	0	0	0	0	13106	1725	60	0	1179	0	RB1	13	48947546	Frame_Shift_Del	DEL	T	TCGA-DX-A8BM-01A-11D-A417-09		48947546	66222332	59	5756											
ATP7B	540	genome.wustl.edu	37	chr13	52536007	52536007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggtccaagtgatgagCgttggggtttctctgggcca	15	8	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr13:52536007C>A	ENST00000242839.4	-	6	2068	c.1912G>T	c.(1912-1914)Gct>Tct	p.A638S	ATP7B_ENST00000418097.2_Missense_Mutation_p.A638S|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.A527S|ATP7B_ENST00000448424.2_Missense_Mutation_p.A638S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	638					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTGATGAGCGTTGGGGTTT	0.453									Wilson disease																																								0								ENSG00000123191						200	191	193					13																	52536007		1897	4104	6001	ATP7B	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1912G>T	13.37:g.52536007C>A	ENSP00000242839:p.Ala638Ser	Somatic	0	69	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	93	21.85	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP							pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.A638S	ENST00000242839.4	37	c.1912	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955514	0.73902	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000448424;ENST00000418097	D;D;D;D	0.96459	-3.98;-3.97;-3.96;-4.02	5.46	5.46	0.80206	Heavy metal-associated domain, HMA (1);	0.435181	0.28365	N	0.015618	D	0.96294	0.8791	L	0.45352	1.415	0.80722	D	1	D;B;D;B;B	0.64830	0.994;0.25;0.988;0.023;0.406	D;B;D;B;B	0.67725	0.947;0.158;0.953;0.095;0.149	D	0.94004	0.7278	10	0.11794	T	0.64	-8.4717	14.5714	0.68213	0.0:0.9275:0.0:0.0725	.	638;638;638;527;638	E7ET55;B7ZLR4;F5H748;P35670-3;P35670	.;.;.;.;ATP7B_HUMAN	S	638;527;638;638	ENSP00000242839:A638S;ENSP00000383217:A527S;ENSP00000416738:A638S;ENSP00000393343:A638S	ENSP00000242839:A638S	A	-	1	0	ATP7B	51434008	0.999000	0.42202	0.387000	0.26183	0.824000	0.46624	4.192000	0.58378	2.562000	0.86427	0.650000	0.86243	GCT	-	superfamily_HeavyMe-assoc_HMA		0.453	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	protein_coding	OTTHUMT00000045981.1	C	NM_000053	-		52536007	-1	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	SNP	0.995	A	A	52536007	C	A	52536007	3	1	99	1	0	0	0	0	1	0	0	0	1191	768	27	3	2549	3	ATP7B	13	52536007	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	3588461	52536007	62633871	60	5757											
SPTB	6710	genome.wustl.edu	37	chr14	65220346	65220346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccatggtcccgcggggCcggcagcgttgcgggctcat	16	15	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr14:65220346C>T	ENST00000556626.1	-	33	6653	c.6511G>A	c.(6511-6513)Gcc>Acc	p.A2171T	SPTB_ENST00000389722.3_Missense_Mutation_p.A2171T|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					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)		TCCCGCGGGGCCGGCAGCGTT	0.632																																																	0								ENSG00000070182						87	94	91					14																	65220346		2203	4300	6503	SPTB	SO:0001583	missense	0			-	HGNC		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		ENST00000556626.1:c.6511G>A	14.37:g.65220346C>T	ENSP00000451752:p.Ala2171Thr	Somatic	0	26	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	Q15510|Q15519	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2171T	ENST00000556626.1	37	c.6511	CCDS32099.1	14	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822650	0.32237	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626	T;T;T	0.71222	-0.55;0.21;-0.55	5.54	4.65	0.58169	.	0.678105	0.14424	N	0.320442	T	0.56615	0.1997	N	0.19112	0.55	0.80722	D	1	B;B	0.20780	0.015;0.048	B;B	0.19946	0.027;0.015	T	0.48948	-0.8989	10	0.27785	T	0.31	.	13.1621	0.59550	0.0:0.9214:0.0:0.0786	.	955;2175	E7EV95;Q59FP5	.;.	T	2175;2171;955;836;2171	ENSP00000374372:A2171T;ENSP00000451324:A836T;ENSP00000451752:A2171T	ENSP00000334218:A955T	A	-	1	0	SPTB	64290099	0.946000	0.32159	0.733000	0.30861	0.011000	0.07611	2.088000	0.41663	1.354000	0.45846	0.511000	0.50034	GCC	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.632	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414076.1	C		-		65220346	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	SNP	0.997	T	T	65220346	C	T	65220346	3	4	99	1	0	0	0	0	1	0	0	0	15125	739	26	2	491	2	SPTB	14	65220346	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		65220346	42129194	61	5758											
TIGD7	91151	genome.wustl.edu	37	chr16	3349014	3349014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgaaggagtccttaataTtatgaggcctaggtttcaaa	9	7	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr16:3349014T>C	ENST00000396862.1	-	2	3429	c.1601A>G	c.(1600-1602)aAt>aGt	p.N534S	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.N534S	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	534						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTCCTTAATATTATGAGGCCT	0.368																																																	0								ENSG00000140993						61	60	60					16																	3349014		2197	4300	6497	TIGD7	SO:0001583	missense	0			-	HGNC	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1601A>G	16.37:g.3349014T>C	ENSP00000380071:p.Asn534Ser	Somatic	0	92	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	74	44.78	Q9BXZ0	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.N534S	ENST00000396862.1	37	c.1601	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.598628	0.00857	.	.	ENSG00000140993	ENST00000396862;ENST00000268674	T;T	0.35605	1.3;1.3	4.44	3.19	0.36642	.	0.840456	0.09555	U	0.786388	T	0.20210	0.0486	N	0.14661	0.345	0.20074	N	0.999937	B	0.19200	0.034	B	0.18263	0.021	T	0.33854	-0.9852	10	0.15499	T	0.54	.	6.9254	0.24412	0.2798:0.0:0.0:0.7202	.	534	Q6NT04	TIGD7_HUMAN	S	534	ENSP00000380071:N534S;ENSP00000268674:N534S	ENSP00000268674:N534S	N	-	2	0	TIGD7	3289015	0.021000	0.18746	0.889000	0.34880	0.749000	0.42624	0.350000	0.20079	0.352000	0.24053	0.533000	0.62120	AAT	-	NULL		0.368	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	protein_coding	OTTHUMT00000251465.1	T	NM_033208	-		3349014	-1	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	SNP	0.996	C	C	3349014	T	C	3349014	3	2	99	1	0	0	0	0	1	0	0	0	15908	1493	52	5	52	5	TIGD7	16	3349014	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09		3349014	87005739	62	5759											
BTBD12	84464	genome.wustl.edu	37	chr16	3646204	3646204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgccgggccacgggctgGcgctcagtccctccctcgcc	12	20	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr16:3646204G>A	ENST00000294008.3	-	8	2514	c.1874C>T	c.(1873-1875)gCc>gTc	p.A625V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	625	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCACGGGCTGGCGCTCAGTCC	0.731								Direct reversal of damage																																									0								ENSG00000188827						5	7	7					16																	3646204		2108	4143	6251	SLX4	SO:0001583	missense	0			-	HGNC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1874C>T	16.37:g.3646204G>A	ENSP00000294008:p.Ala625Val	Somatic	0	18	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A625V	ENST00000294008.3	37	c.1874	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554007	0.45487	.	.	ENSG00000188827	ENST00000294008	T	0.19532	2.14	5.21	1.59	0.23543	.	0.989318	0.08225	N	0.978555	T	0.12732	0.0309	L	0.39898	1.24	0.21020	N	0.999803	P	0.39480	0.675	B	0.26094	0.066	T	0.23013	-1.0200	10	0.42905	T	0.14	.	4.2962	0.10902	0.1621:0.4948:0.3431:0.0	.	625	Q8IY92	SLX4_HUMAN	V	625	ENSP00000294008:A625V	ENSP00000294008:A625V	A	-	2	0	SLX4	3586205	0.868000	0.29978	0.465000	0.27155	0.256000	0.26092	1.360000	0.34125	0.534000	0.28695	0.561000	0.74099	GCC	-	NULL		0.731	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	protein_coding	OTTHUMT00000157301.3	G	NM_032444	-		3646204	-1	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	SNP	0.694	A	A	3646204	G	A	3646204	3	1	99	1	0	0	0	0	1	0	0	0	1542	1203	42	2	3662	2	BTBD12	16	3646204	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	297190	3646204	86708549	63	5760											
PSMD7	5713	genome.wustl.edu	37	chr16	74339214	74339214	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagacacgacggtgggcacTctgtcccagcggatcacaaa	11	12	2	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr16:74339214T>A	ENST00000219313.4	+	7	698	c.558T>A	c.(556-558)acT>acA	p.T186T	PSMD7_ENST00000567958.1_Intron|AC009120.6_ENST00000565313.1_RNA|AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000540379.1_Silent_p.T109T	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	186					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CGGTGGGCACTCTGTCCCAGC	0.483																																																	0								ENSG00000103035						52	51	51					16																	74339214		2198	4300	6498	PSMD7	SO:0001819	synonymous_variant	0			-	HGNC	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.558T>A	16.37:g.74339214T>A		Somatic	0	24	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	26	48.00	D3DWS9|Q6PKI2|Q96E97	Silent	SNP							pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.T186	ENST00000219313.4	37	c.558	CCDS10910.1	16																																																																																			-	NULL		0.483	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD7	protein_coding	OTTHUMT00000269010.2	T	NM_002811	-		74339214	1	no_errors	ENST00000219313	ensembl	human	known	74_37	silent	SNP	0.985	A	A	74339214	T	A	74339214	2	1	99	1	0	0	0	0	0	0	0	1	12708	1538	54	5		5	PSMD7	16	74339214	Silent	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	70693010	74339214	16015539	64	5761											
USP10	9100	genome.wustl.edu	37	chr16	84801916	84801916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggatgcactggagagcttGgtggcaagagaatctgtcca	14	8	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr16:84801916G>C	ENST00000219473.7	+	11	2063	c.1950G>C	c.(1948-1950)ttG>ttC	p.L650F	USP10_ENST00000570191.1_Missense_Mutation_p.L654F	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	650	USP.				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						TGGAGAGCTTGGTGGCAAGAG	0.438																																																	0								ENSG00000103194						34	31	32					16																	84801916		1908	4128	6036	USP10	SO:0001583	missense	0			-	HGNC	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.1950G>C	16.37:g.84801916G>C	ENSP00000219473:p.Leu650Phe	Somatic	0	27	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.L654F	ENST00000219473.7	37	c.1962	CCDS45537.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.783957|3.783957	0.70222|0.70222	.|.	.|.	ENSG00000103194|ENSG00000103194	ENST00000397953|ENST00000219473	.|T	.|0.25414	.|1.8	5.51|5.51	4.56|4.56	0.56223|0.56223	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.225469	.|0.37669	.|N	.|0.001989	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.05050|0.05050	-0.12|-0.12	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P	.|0.62365	.|0.991;0.885	.|P;P	.|0.59889	.|0.865;0.824	T|T	0.09952|0.09952	-1.0651|-1.0651	6|10	0.87932|0.40728	D|T	0|0.16	-13.1471|-13.1471	9.919|9.919	0.41453|0.41453	0.1542:0.0:0.8458:0.0|0.1542:0.0:0.8458:0.0	.|.	.|654;650	.|Q14694-3;Q14694	.|.;UBP10_HUMAN	R|F	212|650	.|ENSP00000219473:L650F	ENSP00000381044:G212R|ENSP00000219473:L650F	G|L	+|+	1|3	0|2	USP10|USP10	83359417|83359417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	5.315000|5.315000	0.65810|0.65810	1.466000|1.466000	0.48025|0.48025	0.655000|0.655000	0.94253|0.94253	GGT|TTG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.438	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	protein_coding	OTTHUMT00000433660.1	G		-		84801916	1	no_errors	ENST00000570191	ensembl	human	known	74_37	missense	SNP	1.000	C	C	84801916	G	C	84801916	3	2	99	1	0	0	0	0	1	0	0	0	17048	1339	47	4	1992	4	USP10	16	84801916	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	10462702	84801916	5552837	65	5762											
OR1A1	8383	genome.wustl.edu	37	chr17	3119374	3119374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggtgattggaaatGccaatgccctcccccacact	10	13	1	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr17:3119374G>A	ENST00000304094.1	+	1	460	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GATTGGAAATGCCAATGCCCT	0.517																																																	0								ENSG00000172146						156	135	142					17																	3119374		2203	4300	6503	OR1A1	SO:0001583	missense	0			-	HGNC	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.460G>A	17.37:g.3119374G>A	ENSP00000305207:p.Ala154Thr	Somatic	0	27	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A154T	ENST00000304094.1	37	c.460	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	G	8.110	0.778656	0.16120	.	.	ENSG00000172146	ENST00000304094	T	0.38401	1.14	4.96	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	1.225090	0.05727	N	0.598880	T	0.21550	0.0519	L	0.38953	1.18	0.09310	N	1	B	0.14805	0.011	B	0.20955	0.032	T	0.34875	-0.9811	10	0.54805	T	0.06	.	1.0286	0.01533	0.424:0.1555:0.1325:0.288	.	154	Q9P1Q5	OR1A1_HUMAN	T	154	ENSP00000305207:A154T	ENSP00000305207:A154T	A	+	1	0	OR1A1	3066124	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	-2.078000	0.01370	-0.859000	0.04105	0.436000	0.28706	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.517	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	protein_coding	OTTHUMT00000207292.1	G	NM_014565	-		3119374	1	no_errors	ENST00000304094	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3119374	G	A	3119374	3	1	99	1	0	0	0	0	1	0	0	0	10951	1319	46	2	462	2	OR1A1	17	3119374	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		3119374	78075836	66	5763											
AIPL1	23746	genome.wustl.edu	37	chr17	6330048	6330048	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattgatcatcttctccagcTtcagccactgcacctcccat	4	16	4	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr17:6330048T>A	ENST00000381129.3	-	5	751	c.671A>T	c.(670-672)aAg>aTg	p.K224M	AIPL1_ENST00000571740.1_Missense_Mutation_p.K216M|AIPL1_ENST00000250087.5_Missense_Mutation_p.K161M|AIPL1_ENST00000576776.1_Intron|AIPL1_ENST00000576307.1_Missense_Mutation_p.K164M|AIPL1_ENST00000574506.1_Missense_Mutation_p.K212M|AIPL1_ENST00000575265.1_Missense_Mutation_p.K224M|AIPL1_ENST00000570466.1_Missense_Mutation_p.K202M	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	224					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTTCTCCAGCTTCAGCCACTG	0.587																																																	0								ENSG00000129221						112	78	90					17																	6330048		2203	4300	6503	AIPL1	SO:0001583	missense	0			-	HGNC	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.671A>T	17.37:g.6330048T>A	ENSP00000370521:p.Lys224Met	Somatic	0	30	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	32	40.74	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom	p.K224M	ENST00000381129.3	37	c.671	CCDS11075.1	17	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645222	0.67358	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	T;T	0.75589	-0.95;-0.95	5.15	5.15	0.70609	Elongated TPR repeat-containing domain (1);	0.091014	0.85682	D	0.000000	D	0.82531	0.5057	L	0.58101	1.795	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.988;0.995;0.997;1.0;0.991	P;P;D;D;P	0.71414	0.848;0.819;0.973;0.957;0.827	D	0.83972	0.0327	10	0.62326	D	0.03	-52.811	12.9088	0.58169	0.0:0.0:0.0:1.0	.	202;224;161;164;224	Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	M	224;164;161;224	ENSP00000370521:K224M;ENSP00000250087:K161M	ENSP00000250087:K161M	K	-	2	0	AIPL1	6270772	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.886000	0.69743	1.931000	0.55961	0.402000	0.26972	AAG	-	NULL		0.587	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AIPL1	protein_coding	OTTHUMT00000219828.3	T	NM_014336	-		6330048	-1	no_errors	ENST00000381129	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6330048	T	A	6330048	3	1	99	1	0	0	0	0	1	0	0	0	436	1609	56	5	491	5	AIPL1	17	6330048	Missense_Mutation	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09	3210674	6330048	74865162	67	5764											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47115649	47115649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggggctttggctctcGgggtcagccccgccagggct	17	14	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr17:47115649G>A	ENST00000290341.3	+	6	855	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	174					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGGCTCTCGGGGTCAGCCC	0.657																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0								ENSG00000159217						31	37	35					17																	47115649		2203	4300	6503	IGF2BP1	SO:0001583	missense	0			-	HGNC	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.521G>A	17.37:g.47115649G>A	ENSP00000290341:p.Arg174Gln	Somatic	0	91	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	104	38.10	C9JT33	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R174Q	ENST00000290341.3	37	c.521	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.776025	0.96922	.	.	ENSG00000159217	ENST00000290341	T	0.21191	2.02	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.31071	0.0785	L	0.59436	1.845	0.80722	D	1	D	0.54397	0.966	P	0.47626	0.552	T	0.01472	-1.1346	10	0.31617	T	0.26	-22.2604	19.0998	0.93269	0.0:0.0:1.0:0.0	.	174	Q9NZI8	IF2B1_HUMAN	Q	174	ENSP00000290341:R174Q	ENSP00000290341:R174Q	R	+	2	0	IGF2BP1	44470648	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.491000	0.66887	2.585000	0.87301	0.655000	0.94253	CGG	-	NULL		0.657	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	G	NM_006546	-		47115649	1	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47115649	G	A	47115649	3	1	99	1	0	0	0	0	1	0	0	0	7575	1116	39	1	543	1	IGF2BP1	17	47115649	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	40785601	47115649	34079561	68	5765											
APPBP2	10513	genome.wustl.edu	37	chr17	58529372	58529372	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagaagttgttctttaAtctgaattgctttgatgtgc	9	6	2	3			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr17:58529372A>T	ENST00000083182.3	-	12	1660	c.1373T>A	c.(1372-1374)aTt>aAt	p.I458N		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	458					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTGTTCTTTAATCTGAATTGC	0.323																																																	0								ENSG00000062725						96	95	95					17																	58529372		2203	4298	6501	APPBP2	SO:0001583	missense	0			-	HGNC	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1373T>A	17.37:g.58529372A>T	ENSP00000083182:p.Ile458Asn	Somatic	0	67	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	A8K862|O95095|Q8WVC9	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I458N	ENST00000083182.3	37	c.1373	CCDS32699.1	17	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330213	0.81690	.	.	ENSG00000062725	ENST00000083182	D	0.95518	-3.73	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	M	0.92555	3.32	0.80722	D	1	P	0.49961	0.93	P	0.62298	0.9	D	0.99104	1.0844	10	0.87932	D	0	-11.2485	15.1204	0.72438	1.0:0.0:0.0:0.0	.	458	Q92624	APBP2_HUMAN	N	458	ENSP00000083182:I458N	ENSP00000083182:I458N	I	-	2	0	APPBP2	55884154	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.677000	0.91203	1.969000	0.57287	0.373000	0.22412	ATT	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.323	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	protein_coding	OTTHUMT00000449465.1	A	NM_006380	-		58529372	-1	no_errors	ENST00000083182	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58529372	A	T	58529372	3	4	99	1	0	0	0	0	1	0	0	0	816	101	4	5	392	5	APPBP2	17	58529372	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09	11413723	58529372	22665838	69	5766											
KIF19	124602	genome.wustl.edu	37	chr17	72340475	72340475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcaccgaagtctccaccatCaatgccaaggaggcgagttt	9	12	3	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr17:72340475C>G	ENST00000389916.4	+	6	708	c.570C>G	c.(568-570)atC>atG	p.I190M		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	190	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTCCACCATCAATGCCAAGG	0.652																																																	0								ENSG00000196169						32	30	30					17																	72340475		2203	4300	6503	KIF19	SO:0001583	missense	0			-	HGNC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.570C>G	17.37:g.72340475C>G	ENSP00000374566:p.Ile190Met	Somatic	0	10	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.I190M	ENST00000389916.4	37	c.570	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353437	0.24512	.	.	ENSG00000196169	ENST00000389916	T	0.74737	-0.87	5.79	2.63	0.31362	Kinesin, motor domain (4);	.	.	.	.	T	0.70395	0.3219	N	0.21324	0.655	0.43588	D	0.995936	D;P	0.59767	0.986;0.513	D;P	0.64595	0.927;0.521	T	0.67329	-0.5698	9	0.54805	T	0.06	.	3.2877	0.06937	0.1447:0.5673:0.1395:0.1485	.	190;190	Q2TAC6;Q2TAC6-2	KIF19_HUMAN;.	M	190	ENSP00000374566:I190M	ENSP00000374566:I190M	I	+	3	3	KIF19	69852070	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	1.486000	0.35530	0.340000	0.23745	-0.334000	0.08254	ATC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.652	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	C	NM_153209	-		72340475	1	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72340475	C	G	72340475	3	3	99	1	0	0	0	0	1	0	0	0	8284	816	29	4	592	4	KIF19	17	72340475	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	13811103	72340475	8854735	70	5767											
RNF213	57674	genome.wustl.edu	37	chr17	78360610	78360610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggagggcagagagacCgtgcaggagttcgatctgga	19	6	1	2	rs139685293	byFrequency	TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr17:78360610C>T	ENST00000582970.1	+	63	14984	c.14841C>T	c.(14839-14841)acC>acT	p.T4947T	RNF213_ENST00000336301.6_Silent_p.T3020T|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.T4996T|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4947					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)			GCAGAGAGACCGTGCAGGAGT	0.582													C|||	5	0.000998403	0.0038	0	5008	,	,		20239	0		0	False		,,,				2504	0																0								ENSG00000173821	C		20,4386	27.2+/-55.0	0,20,2183	71	62	65		14988	-3.6	0	17	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	RNF213	NM_020914.4		0,20,6483	TT,TC,CC		0.0,0.4539,0.1538		4996/5257	78360610	20,12986	2203	4300	6503	RNF213	SO:0001819	synonymous_variant	0			-	HGNC	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.14841C>T	17.37:g.78360610C>T		Somatic	0	21	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.T4947	ENST00000582970.1	37	c.14841	CCDS58606.1	17																																																																																			-	NULL		0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	C	NM_020914	rs139685293		78360610	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	SNP	0.000	T	T	78360610	C	T	78360610	2	4	99	1	0	0	0	0	0	0	0	1	13485	639	23	1		1	RNF213	17	78360610	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	6020135	78360610	2834600	71	5768											
LAMA1	284217	genome.wustl.edu	37	chr18	6999551	6999551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtgcggtcacagtcaCcgtggacagagccgtgcggg	16	11	2	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr18:6999551C>T	ENST00000389658.3	-	32	4649	c.4556G>A	c.(4555-4557)gGt>gAt	p.G1519D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1519	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)				GTCACAGTCACCGTGGACAGA	0.577																																																	0								ENSG00000101680						62	49	53					18																	6999551		2203	4300	6503	LAMA1	SO:0001583	missense	0			-	HGNC	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.4556G>A	18.37:g.6999551C>T	ENSP00000374309:p.Gly1519Asp	Somatic	0	41	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G1519D	ENST00000389658.3	37	c.4556	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	3.985	-0.005591	0.07773	.	.	ENSG00000101680	ENST00000389658	T	0.60548	0.18	5.87	4.1	0.47936	EGF-like, laminin (3);	1.193250	0.05528	N	0.563537	T	0.42944	0.1225	N	0.24115	0.695	0.09310	N	1	P	0.41475	0.751	B	0.40982	0.345	T	0.25984	-1.0116	10	0.12766	T	0.61	.	5.2692	0.15615	0.1338:0.592:0.0:0.2742	.	1519	P25391	LAMA1_HUMAN	D	1519	ENSP00000374309:G1519D	ENSP00000374309:G1519D	G	-	2	0	LAMA1	6989551	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.041000	0.13927	0.841000	0.35020	-0.140000	0.14226	GGT	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.577	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	C	NM_005559	-		6999551	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6999551	C	T	6999551	3	4	99	1	0	0	0	0	1	0	0	0	8607	507	18	2	4799	2	LAMA1	18	6999551	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		6999551	71077697	72	5769											
FHOD3	80206	genome.wustl.edu	37	chr18	34205614	34205614	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagccgcaggcactcGgtgcagagcatcaagagcac	14	11	1	3			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr18:34205614G>T	ENST00000359247.4	+	10	1098	c.1098G>T	c.(1096-1098)tcG>tcT	p.S366S	FHOD3_ENST00000445677.1_Silent_p.S366S|FHOD3_ENST00000257209.4_Silent_p.S366S|FHOD3_ENST00000590592.1_Silent_p.S366S|FHOD3_ENST00000591635.1_Missense_Mutation_p.R41L	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	366	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCAGGCACTCGGTGCAGAGCA	0.672																																																	0								ENSG00000134775						74	77	76					18																	34205614		2203	4300	6503	FHOD3	SO:0001819	synonymous_variant	0			-	HGNC	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1098G>T	18.37:g.34205614G>T		Somatic	0	39	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP							pfam_FH2_Formin,smart_FH2_Formin	p.R41L	ENST00000359247.4	37	c.122		18																																																																																			-	NULL		0.672	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	protein_coding	OTTHUMT00000460884.1	G	XM_371114	-		34205614	1	no_errors	ENST00000591635	ensembl	human	putative	74_37	missense	SNP	0.014	T	T	34205614	G	T	34205614	2	4	99	1	0	0	0	0	0	0	0	1	5885	1103	39	3		3	FHOD3	18	34205614	Silent	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	27206063	34205614	43871634	73	5770											
ZFR2	23217	genome.wustl.edu	37	chr19	3806098	3806098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaccttgtgggtctgcCggaaggccagcattcgcagg	15	12	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:3806098C>T	ENST00000262961.4	-	19	2679	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	890	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTGGGTCTGCCGGAAGGCCAG	0.706																																																	0								ENSG00000105278						8	11	10					19																	3806098		1961	4122	6083	ZFR2	SO:0001583	missense	0			-	HGNC	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2669G>A	19.37:g.3806098C>T	ENSP00000262961:p.Arg890Gln	Somatic	0	8	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59		Missense_Mutation	SNP							pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R890Q	ENST00000262961.4	37	c.2669	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843794	0.51164	.	.	ENSG00000105278	ENST00000262961	T	0.41400	1.0	3.42	1.26	0.21427	DZF (2);	0.000000	0.64402	U	0.000010	T	0.61813	0.2377	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59862	-0.7374	10	0.66056	D	0.02	-27.2308	5.6445	0.17582	0.0:0.7404:0.0:0.2596	.	890	Q9UPR6	ZFR2_HUMAN	Q	890	ENSP00000262961:R890Q	ENSP00000262961:R890Q	R	-	2	0	ZFR2	3757098	1.000000	0.71417	0.998000	0.56505	0.122000	0.20287	3.081000	0.50120	0.287000	0.22375	-0.148000	0.13756	CGG	-	pfam_DZF,smart_DZF		0.706	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	protein_coding	OTTHUMT00000453648.2	C	NM_015174	-		3806098	-1	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3806098	C	T	3806098	3	4	99	1	0	0	0	0	1	0	0	0	17667	652	23	1	154	1	ZFR2	19	3806098	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09		3806098	55322885	74	5771											
WIZ	58525	genome.wustl.edu	37	chr19	15547866	15547866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcgtggctggagaggcCggcccgtgtgtcgaagccag	19	12	0	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:15547866C>T	ENST00000389282.4	-	4	2560	c.2347G>A	c.(2347-2349)Ggc>Agc	p.G783S	WIZ_ENST00000263381.7_Missense_Mutation_p.G94S			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	783					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGAGAGGCCGGCCCGTGTG	0.632																																																	0								ENSG00000011451						29	39	35					19																	15547866		2123	4231	6354	WIZ	SO:0001583	missense	0			-	HGNC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2347G>A	19.37:g.15547866C>T	ENSP00000373933:p.Gly783Ser	Somatic	0	58	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	44	57.69	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G783S	ENST00000389282.4	37	c.2347		19	.	.	.	.	.	.	.	.	.	.	C	32	5.171259	0.94807	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T;T	0.26660	1.73;1.72	4.26	4.26	0.50523	.	0.144593	0.45126	D	0.000394	T	0.52338	0.1728	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59461	-0.7450	9	0.72032	D	0.01	-23.3357	15.6849	0.77402	0.0:1.0:0.0:0.0	.	94	O95785-2	.	S	783;94	ENSP00000373933:G783S;ENSP00000263381:G94S	ENSP00000263381:G94S	G	-	1	0	WIZ	15408866	1.000000	0.71417	0.968000	0.41197	0.991000	0.79684	7.196000	0.77805	2.215000	0.71742	0.449000	0.29647	GGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	protein_coding		C	NM_021241	-		15547866	-1	no_errors	ENST00000389282	ensembl	human	known	74_37	missense	SNP	0.999	T	T	15547866	C	T	15547866	3	4	99	1	0	0	0	0	1	0	0	0	17382	652	23	1	2128	1	WIZ	19	15547866	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	11741768	15547866	43581117	75	5772											
IL12RB1	3594	genome.wustl.edu	37	chr19	18179264	18179264	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagcttctcggggtgcgcaGaggcaaagatggtaatgtag	16	6	1	3	rs201548803		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:18179264G>A	ENST00000600835.2	-	12	1560	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	IL12RB1_ENST00000593993.2_Missense_Mutation_p.S421F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	421	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GGGGTGCGCAGAGGCAAAGAT	0.517																																																	0								ENSG00000096996						129	130	130					19																	18179264		2038	4185	6223	IL12RB1	SO:0001583	missense	0			-	HGNC	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1262C>T	19.37:g.18179264G>A	ENSP00000470788:p.Ser421Phe	Somatic	0	45	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	98	32.41	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S421F	ENST00000600835.2	37	c.1262	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213203	0.58452	.	.	ENSG00000096996	ENST00000430026	D	0.84223	-1.82	4.6	4.6	0.57074	.	0.244102	0.29286	N	0.012591	D	0.89458	0.6721	M	0.66939	2.045	0.80722	D	1	D;P	0.53885	0.963;0.938	P;P	0.60473	0.875;0.754	D	0.88634	0.3171	10	0.39692	T	0.17	-18.5864	13.2552	0.60074	0.0:0.0:1.0:0.0	.	421;421	P42701-2;P42701	.;I12R1_HUMAN	F	421	ENSP00000403103:S421F	ENSP00000403103:S421F	S	-	2	0	IL12RB1	18040264	0.997000	0.39634	0.361000	0.25849	0.123000	0.20343	4.287000	0.59001	2.266000	0.75297	0.561000	0.74099	TCT	-	NULL		0.517	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	G		rs201548803		18179264	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	missense	SNP	0.646	A	A	18179264	G	A	18179264	3	1	99	1	0	0	0	0	1	0	0	0	7628	942	33	2	754	2	IL12RB1	19	18179264	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	2631398	18179264	40949719	76	5773											
RYR1	6261	genome.wustl.edu	37	chr19	38976304	38976304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaccctgcgcctctaccGcgctgtgtgcgccctgggca	12	18	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:38976304G>A	ENST00000359596.3	+	34	5009	c.5009G>A	c.(5008-5010)cGc>cAc	p.R1670H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1670H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1670H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1670	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)	p.R1670H(1)		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)	CGCCTCTACCGCGCTGTGTGC	0.662																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000196218						46	44	45					19																	38976304		2202	4296	6498	RYR1	SO:0001583	missense	0			-	HGNC	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.5009G>A	19.37:g.38976304G>A	ENSP00000352608:p.Arg1670His	Somatic	0	9	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R1670H	ENST00000359596.3	37	c.5009	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372571	0.61624	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96830	-4.13;-4.14;-4.14	4.07	4.07	0.47477	.	0.550372	0.17167	U	0.184416	D	0.94578	0.8253	N	0.14661	0.345	0.34064	D	0.65757	D;D	0.71674	0.998;0.997	P;P	0.55222	0.731;0.771	D	0.96950	0.9694	10	0.66056	D	0.02	.	16.0625	0.80847	0.0:0.0:1.0:0.0	.	1670;1670	P21817-2;P21817	.;RYR1_HUMAN	H	1670	ENSP00000352608:R1670H;ENSP00000347667:R1670H;ENSP00000354254:R1670H	ENSP00000347667:R1670H	R	+	2	0	RYR1	43668144	0.975000	0.34042	0.978000	0.43139	0.947000	0.59692	1.891000	0.39738	2.096000	0.63516	0.650000	0.86243	CGC	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		38976304	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	0.999	A	A	38976304	G	A	38976304	3	1	99	1	0	0	0	0	1	0	0	0	13776	1087	38	1	5143	1	RYR1	19	38976304	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	20797040	38976304	20152679	77	5774											
CAPN12	147968	genome.wustl.edu	37	chr19	39229227	39229227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttaccttgtgtgtgcccGtgatggaatacgcgtgtccc	11	12	0	1	rs374083881		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:39229227G>A	ENST00000328867.4	-	6	1099	c.791C>T	c.(790-792)aCg>aTg	p.T264M	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.T115M	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	264	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTGTGTGCCCGTGATGGAATA	0.622																																																	0								ENSG00000182472	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	135	103	114		791	5	1	19		114	0,8600		0,0,4300	no	missense	CAPN12	NM_144691.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	264/720	39229227	2,13004	2203	4300	6503	CAPN12	SO:0001583	missense	0			-	HGNC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.791C>T	19.37:g.39229227G>A	ENSP00000331636:p.Thr264Met	Somatic	0	38	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00		Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.T264M	ENST00000328867.4	37	c.791	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472125	0.63737	4.54E-4	0.0	ENSG00000182472	ENST00000328867	T	0.17691	2.26	5.02	5.02	0.67125	Peptidase C2, calpain, catalytic domain (3);	0.172559	0.49916	D	0.000133	T	0.41419	0.1158	M	0.67397	2.05	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.27773	-1.0064	10	0.87932	D	0	.	16.1807	0.81895	0.0:0.0:1.0:0.0	.	264	Q6ZSI9	CAN12_HUMAN	M	264	ENSP00000331636:T264M	ENSP00000331636:T264M	T	-	2	0	CAPN12	43921067	1.000000	0.71417	0.998000	0.56505	0.243000	0.25628	8.876000	0.92379	2.505000	0.84491	0.462000	0.41574	ACG	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	protein_coding	OTTHUMT00000462151.1	G		-		39229227	-1	no_errors	ENST00000328867	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39229227	G	A	39229227	3	1	99	1	0	0	0	0	1	0	0	0	2627	1145	40	1	1432	1	CAPN12	19	39229227	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	252923	39229227	19899756	78	5775											
KLK12	43849	genome.wustl.edu	37	chr19	51537872	51537872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcaaaaagatgctgagCcccatggtgggtcacttcca	12	10	1	2	rs552324076		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:51537872C>T	ENST00000525263.1	-	1	125	c.6G>A	c.(4-6)ggG>ggA	p.G2G	KLK12_ENST00000319590.4_Silent_p.G2G|KLK12_ENST00000529888.1_Silent_p.G2G|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250351.4_Silent_p.G2G|KLK12_ENST00000250352.11_5'UTR			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	2					proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGATGCTGAGCCCCATGGTGG	0.587													C|||	1	0.000199681	0	0	5008	,	,		18282	0.001		0	False		,,,				2504	0																0								ENSG00000186474						70	65	66					19																	51537872		2203	4300	6503	KLK12	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.6G>A	19.37:g.51537872C>T		Somatic	0	52	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	Q9UKR1|Q9UKR2	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G2	ENST00000525263.1	37	c.6	CCDS12821.1	19																																																																																			-	NULL		0.587	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	protein_coding	OTTHUMT00000386288.1	C	NM_019598	-		51537872	-1	no_errors	ENST00000250351	ensembl	human	known	74_37	silent	SNP	0.000	T	T	51537872	C	T	51537872	2	4	99	1	0	0	0	0	0	0	0	1	8402	726	26	2		2	KLK12	19	51537872	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	12308645	51537872	7591111	79	5776											
LILRB4	11006	genome.wustl.edu	37	chr19	55179188	55179188	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccctccccactgtctgggGaattcctggacacaaaggac	9	15	1	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr19:55179188G>T	ENST00000391736.1	+	13	1459	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.E382*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.E383*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.E381*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	382					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGTCTGGGGAATTCCTGGA	0.592																																																	0								ENSG00000186818						68	68	68					19																	55179188		2201	4297	6498	LILRB4	SO:0001587	stop_gained	0			-	HGNC	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1144G>T	19.37:g.55179188G>T	ENSP00000375616:p.Glu382*	Somatic	0	79	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	90	11.76	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Nonsense_Mutation	SNP							pfam_Immunoglobulin,pfscan_Ig-like_dom	p.E382*	ENST00000391736.1	37	c.1144	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388375	0.42308	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	.	.	.	2.36	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.2257	0.31568	0.0:0.0:1.0:0.0	.	.	.	.	X	382;382;381;383;381	.	ENSP00000270452:E382X	E	+	1	0	LILRB4	59871000	0.000000	0.05858	0.010000	0.14722	0.150000	0.21749	-0.510000	0.06328	1.332000	0.45431	0.561000	0.74099	GAA	-	NULL		0.592	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	protein_coding	OTTHUMT00000141127.3	G		-		55179188	1	no_errors	ENST00000270452	ensembl	human	known	74_37	nonsense	SNP	0.008	T	T	55179188	G	T	55179188	4	4	99	1	0	0	0	0	0	1	0	0	8795	1175	41	3	1186	3	LILRB4	19	55179188	Nonsense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09	3641316	55179188	3949795	80	5777											
CHGB	1114	genome.wustl.edu	37	chr20	5904558	5904558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatgagaagagaaacctcGccagggtccccaagctggac	13	11	0	2	rs148235020		TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr20:5904558G>A	ENST00000378961.4	+	4	1972	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	590						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAAACCTCGCCAGGGTCCC	0.498																																																	0								ENSG00000089199	G	THR/ALA	0,4406		0,0,2203	44	43	43		1768	-3	0	20	dbSNP_134	43	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHGB	NM_001819.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	590/678	5904558	2,13004	2203	4300	6503	CHGB	SO:0001583	missense	0			-	HGNC		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1768G>A	20.37:g.5904558G>A	ENSP00000368244:p.Ala590Thr	Somatic	0	73	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	39	54.12	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP							pfam_Granin,prints_Chromogranin_AB	p.A590T	ENST00000378961.4	37	c.1768	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212732	0.39102	0.0	2.33E-4	ENSG00000089199	ENST00000378961	T	0.01804	4.63	5.79	-2.98	0.05513	.	0.935397	0.08957	N	0.869218	T	0.01592	0.0051	N	0.25647	0.755	0.09310	N	1	P	0.51653	0.947	B	0.43889	0.435	T	0.49021	-0.8982	10	0.49607	T	0.09	-0.1548	5.6767	0.17753	0.1719:0.4561:0.2788:0.0931	.	590	P05060	SCG1_HUMAN	T	590	ENSP00000368244:A590T	ENSP00000368244:A590T	A	+	1	0	CHGB	5852558	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-0.002000	0.12924	-0.139000	0.11414	0.561000	0.74099	GCC	-	pfam_Granin		0.498	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	protein_coding	OTTHUMT00000077897.2	G	NM_001819	rs148235020		5904558	1	no_errors	ENST00000378961	ensembl	human	known	74_37	missense	SNP	0.000	A	A	5904558	G	A	5904558	3	1	99	1	0	0	0	0	1	0	0	0	3341	1087	38	1	1782	1	CHGB	20	5904558	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		5904558	57120962	81	5778											
HAO1	54363	genome.wustl.edu	37	chr20	7894822	7894822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggttacctgagttgtggCggcagtttgaatctgttacg	13	7	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr20:7894822C>T	ENST00000378789.3	-	3	585	c.534G>A	c.(532-534)ccG>ccA	p.P178P		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	178	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						TGAGTTGTGGCGGCAGTTTGA	0.527																																																	0								ENSG00000101323						141	103	116					20																	7894822		2203	4300	6503	HAO1	SO:0001819	synonymous_variant	0			-	HGNC	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.534G>A	20.37:g.7894822C>T		Somatic	0	47	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP							pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.P178	ENST00000378789.3	37	c.534	CCDS13100.1	20																																																																																			-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.527	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	protein_coding	OTTHUMT00000077926.2	C		-		7894822	-1	no_errors	ENST00000378789	ensembl	human	known	74_37	silent	SNP	0.926	T	T	7894822	C	T	7894822	2	4	99	1	0	0	0	0	0	0	0	1	6953	755	27	1		1	HAO1	20	7894822	Silent	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	1990264	7894822	55130698	82	5779											
PLAGL2	5326	genome.wustl.edu	37	chr20	30784433	30784433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgggagtagcccatgAccaggcctcctgtggcccca	12	16	0	1			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr20:30784433A>T	ENST00000246229.4	-	3	1577	c.1313T>A	c.(1312-1314)gTc>gAc	p.V438D		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	438					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTAGCCCATGACCAGGCCTCC	0.612																																					Colon(163;15 1893 11280 16306 47518)												0								ENSG00000126003						33	34	34					20																	30784433		2203	4300	6503	PLAGL2	SO:0001583	missense	0			-	HGNC		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1313T>A	20.37:g.30784433A>T	ENSP00000246229:p.Val438Asp	Somatic	0	35	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V438D	ENST00000246229.4	37	c.1313	CCDS13197.1	20	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315088	0.40996	.	.	ENSG00000126003	ENST00000246229	T	0.10382	2.88	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	L	0.40543	1.245	0.80722	D	1	D	0.59357	0.985	P	0.51974	0.686	T	0.00756	-1.1579	10	0.52906	T	0.07	.	10.8134	0.46559	0.8417:0.1583:0.0:0.0	.	438	Q9UPG8	PLAL2_HUMAN	D	438	ENSP00000246229:V438D	ENSP00000246229:V438D	V	-	2	0	PLAGL2	30248094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.743000	0.68655	2.058000	0.61347	0.477000	0.44152	GTC	-	NULL		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL2	protein_coding	OTTHUMT00000078615.2	A	NM_002657	-		30784433	-1	no_errors	ENST00000246229	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30784433	A	T	30784433	3	4	99	1	0	0	0	0	1	0	0	0	12022	275	10	5	181	5	PLAGL2	20	30784433	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09	22889611	30784433	32241087	83	5780											
USP25	29761	genome.wustl.edu	37	chr21	17183456	17183456	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattttttaacatactttagGgatgaagagaagccaaagaa	8	4	0	3			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr21:17183456G>T	ENST00000285679.6	+	9	1227	c.858G>T	c.(856-858)acG>acT	p.T286T	USP25_ENST00000400183.2_Splice_Site_p.T286T|USP25_ENST00000285681.2_Splice_Site_p.T286T|USP25_ENST00000351097.5_Intron|USP25_ENST00000547201.1_3'UTR	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	286	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CATACTTTAGGGATGAAGAGA	0.318																																																	0								ENSG00000155313						122	127	125					21																	17183456		2203	4300	6503	USP25	SO:0001630	splice_region_variant	0			-	HGNC	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.858-1G>T	21.37:g.17183456G>T		Somatic	0	111	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	83	22.43	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP							pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.T286	ENST00000285679.6	37	c.858	CCDS33515.1	21																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.318	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	protein_coding	OTTHUMT00000157964.1	G		-	Silent	17183456	1	no_errors	ENST00000400183	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17183456	G	T	17183456	5	4	99	1	0	0	0	0	0	0	1	0	17063	1246	43	3	892	3	USP25	21	17183456	Splice_Site	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		17183456	30946439	84	5781											
ZNF280A	129025	genome.wustl.edu	37	chr22	22869380	22869380	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaagggaccacagctaaaGaaggtacccctgggattcca	11	11	0	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr22:22869380G>T	ENST00000302097.3	-	2	827	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	192					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(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CACAGCTAAAGAAGGTACCCC	0.428																																																	0								ENSG00000169548						119	109	113					22																	22869380		2203	4300	6503	ZNF280A	SO:0001583	missense	0			-	HGNC	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.575C>A	22.37:g.22869380G>T	ENSP00000302855:p.Ser192Tyr	Somatic	0	21	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S192Y	ENST00000302097.3	37	c.575	CCDS13800.1	22	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418958	0.42918	.	.	ENSG00000169548	ENST00000302097	T	0.25414	1.8	3.57	2.47	0.30058	.	.	.	.	.	T	0.42832	0.1220	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.11131	-1.0600	9	0.87932	D	0	-6.154	7.7553	0.28921	0.0:0.0:0.6703:0.3297	.	192	P59817	Z280A_HUMAN	Y	192	ENSP00000302855:S192Y	ENSP00000302855:S192Y	S	-	2	0	ZNF280A	21199380	0.000000	0.05858	0.001000	0.08648	0.121000	0.20230	0.049000	0.14099	0.893000	0.36288	0.655000	0.94253	TCT	-	NULL		0.428	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	protein_coding	OTTHUMT00000075433.3	G	NM_080740	-		22869380	-1	no_errors	ENST00000302097	ensembl	human	known	74_37	missense	SNP	0.001	T	T	22869380	G	T	22869380	3	4	99	1	0	0	0	0	1	0	0	0	17821	942	33	3	1057	3	ZNF280A	22	22869380	Missense_Mutation	SNP	G	TCGA-DX-A8BM-01A-11D-A417-09		22869380	28435186	85	5782											
SEZ6L	23544	genome.wustl.edu	37	chr22	26688873	26688873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccctacaacacccgcacCcctgcaaatctcccccttca	4	21	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chr22:26688873C>A	ENST00000248933.6	+	2	691	c.596C>A	c.(595-597)cCc>cAc	p.P199H	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P199H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P199H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P199H|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P199H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	199					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACACCCGCACCCCTGCAAATC	0.672																																																	0								ENSG00000100095						56	59	58					22																	26688873		2203	4298	6501	SEZ6L	SO:0001583	missense	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.596C>A	22.37:g.26688873C>A	ENSP00000248933:p.Pro199His	Somatic	0	31	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P199H	ENST00000248933.6	37	c.596	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222253	0.39300	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.33216	1.65;1.79;1.83;1.67;1.42	4.49	4.49	0.54785	.	0.164112	0.28877	N	0.013844	T	0.30665	0.0772	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;0.998;0.998	D;P;D;D;P;P	0.76575	0.915;0.87;0.964;0.988;0.87;0.87	T	0.20739	-1.0266	10	0.72032	D	0.01	.	7.4588	0.27283	0.1656:0.7458:0.0:0.0886	.	199;199;199;199;199;199	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	199	ENSP00000384772:P199H;ENSP00000437037:P199H;ENSP00000354185:P199H;ENSP00000248933:P199H;ENSP00000342661:P199H	ENSP00000248933:P199H	P	+	2	0	SEZ6L	25018873	0.028000	0.19301	0.992000	0.48379	0.302000	0.27658	1.868000	0.39509	2.216000	0.71823	0.508000	0.49915	CCC	-	NULL		0.672	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		-		26688873	1	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	SNP	0.930	A	A	26688873	C	A	26688873	3	1	99	1	0	0	0	0	1	0	0	0	14151	623	22	3	602	3	SEZ6L	22	26688873	Missense_Mutation	SNP	C	TCGA-DX-A8BM-01A-11D-A417-09	3819493	26688873	24615693	86	5783											
DGKK	139189	genome.wustl.edu	37	chrX	50114724	50114724	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcccaagattacgcaccTctggaacaaagattggattc	7	10	1	2			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chrX:50114724T>C	ENST00000376025.2	-	0	3669							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATTACGCACCTCTGGAACAAA	0.473																																																	0								ENSG00000204466						112	99	103					X																	50114724		1935	4124	6059	DGKK			0			-	HGNC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50114724T>C		Somatic	0	32	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	B2RP91	RNA	SNP							-	NULL	ENST00000376025.2	37	NULL		X																																																																																			-	-		0.473	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	T	NM_001013742	-		50114724	-1	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	SNP	0.998	C	C	50114724	T	C	50114724	1	2	99	0	1	0	0	0	0	0	0	0	4474	1565	54	5		5	DGKK	23	50114724	RNA	SNP	T	TCGA-DX-A8BM-01A-11D-A417-09		50114724	105155836	87	5784											
HUWE1	10075	genome.wustl.edu	37	chrX	53631666	53631666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcaacattgcctgcgcAagccagttctcgcaacaaca	7	14	2	0			TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chrX:53631666A>G	ENST00000342160.3	-	25	3083	c.2626T>C	c.(2626-2628)Tgc>Cgc	p.C876R	HUWE1_ENST00000218328.8_Missense_Mutation_p.C876R|HUWE1_ENST00000262854.6_Missense_Mutation_p.C876R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	876					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGCCTGCGCAAGCCAGTTCT	0.567																																																	0								ENSG00000086758						80	62	68					X																	53631666		2203	4300	6503	HUWE1	SO:0001583	missense	0			-	HGNC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2626T>C	X.37:g.53631666A>G	ENSP00000340648:p.Cys876Arg	Somatic	0	23	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	47	46.59	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP							pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.C876R	ENST00000342160.3	37	c.2626	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863683	0.32884	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41758	1.3;1.3;0.99	5.82	5.82	0.92795	.	0.828025	0.11217	N	0.587093	T	0.35913	0.0948	L	0.43152	1.355	0.53005	D	0.999963	P	0.45126	0.851	B	0.34180	0.177	T	0.28004	-1.0057	10	0.59425	D	0.04	.	14.0469	0.64710	1.0:0.0:0.0:0.0	.	876	Q7Z6Z7	HUWE1_HUMAN	R	876	ENSP00000340648:C876R;ENSP00000262854:C876R;ENSP00000218328:C876R	ENSP00000218328:C876R	C	-	1	0	HUWE1	53648391	0.996000	0.38824	1.000000	0.80357	0.690000	0.40134	2.439000	0.44846	1.963000	0.57068	0.486000	0.48141	TGC	-	NULL		0.567	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	A	XM_497119	-		53631666	-1	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	SNP	0.989	G	G	53631666	A	G	53631666	3	3	99	1	0	0	0	0	1	0	0	0	7463	130	5	5	10734	5	HUWE1	23	53631666	Missense_Mutation	SNP	A	TCGA-DX-A8BM-01A-11D-A417-09	3516942	53631666	101638894	88	5785											
ATRX	546	genome.wustl.edu	37	chrX	76938366	76938367	+	Frame_Shift_Ins	INS	-	-	T													agctcttagctgatttgcccINStttttagtatcaaaatctga							TCGA-DX-A8BM-01A-11D-A417-09	TCGA-DX-A8BM-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d7641fa-0687-400b-bf80-67686179fd46	c55775b2-c64d-4761-bbad-9ce34418426b	g.chrX:76938366_76938367insT	ENST00000373344.5	-	9	2595_2596	c.2381_2382insA	c.(2380-2382)aagfs	p.K794fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K756fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	794					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGATTTGCCCTTTTTAGTATC	0.342			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2382dupA	X.37:g.76938371_76938371dupT	ENSP00000362441:p.Lys794fs	Somatic	0	42	0		0.680895947351459				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	16	68.00	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K796fs	ENST00000373344.5	37	c.2382_2381	CCDS14434.1	X																																																																																			-	NULL		0.342	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	-	NM_000489			76938367	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_ins	INS	0.987:0.998	T	T	76938367	-	T	76938366	7	5	99	1	0	1	1	0	0	0	0	0	1208	680	24	0	5204	0	ATRX	23	76938366	Frame_Shift_Ins	INS	-	TCGA-DX-A8BM-01A-11D-A417-09	23306700	76938366	78332194	89	5786											
CASZ1	54897	genome.wustl.edu	37	chr1	10720564	10720564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcggtcatggtggaggCcgcgtagtcccgcagcgagg	17	11	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr1:10720564C>T	ENST00000377022.3	-	6	852	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	CASZ1_ENST00000344008.5_Missense_Mutation_p.A179T|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	179					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)		ATGGTGGAGGCCGCGTAGTCC	0.652																																																	0								ENSG00000130940						28	29	29					1																	10720564		2203	4300	6503	CASZ1	SO:0001583	missense	0			-	HGNC	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.535G>A	1.37:g.10720564C>T	ENSP00000366221:p.Ala179Thr	Somatic	0	28	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A179T	ENST00000377022.3	37	c.535	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901294	0.92035	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	L	0.34521	1.04	0.52501	D	0.999958	D;D;D;D	0.76494	0.995;0.999;0.998;0.998	D;D;D;D	0.81914	0.91;0.98;0.957;0.995	T	0.67452	-0.5667	9	0.41790	T	0.15	-22.5061	16.9775	0.86317	0.0:1.0:0.0:0.0	.	203;179;179;179	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	T	179	.	ENSP00000339445:A179T	A	-	1	0	CASZ1	10643151	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	5.682000	0.68182	2.081000	0.62600	0.491000	0.48974	GCC	-	NULL		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	C	NM_017766	-		10720564	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10720564	C	T	10720564	3	4	100	1	0	0	0	0	1	0	0	0	2687	739	26	2	4812	2	CASZ1	1	10720564	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09		10720564	238530057	1	5787											
SNRNP40	9410	genome.wustl.edu	37	chr1	31744332	31744332	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaggttagcttgttctgGcgcaggtcccagacctgcaa	13	10	1	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr1:31744332G>T	ENST00000263694.4	-	6	687	c.669C>A	c.(667-669)cgC>cgA	p.R223R	SNRNP40_ENST00000373720.3_5'Flank|SNRNP40_ENST00000446633.2_Silent_p.R223R|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	223					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GCTTGTTCTGGCGCAGGTCCC	0.448																																																	0								ENSG00000060688						70	70	70					1																	31744332		2203	4300	6503	SNRNP40	SO:0001819	synonymous_variant	0			-	HGNC	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.669C>A	1.37:g.31744332G>T		Somatic	0	18	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B4DQJ1|O75938|O95320	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R223	ENST00000263694.4	37	c.669	CCDS340.1	1																																																																																			-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.448	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	protein_coding	OTTHUMT00000010657.1	G	NM_004814	-		31744332	-1	no_errors	ENST00000446633	ensembl	human	known	74_37	silent	SNP	1.000	T	T	31744332	G	T	31744332	2	4	100	1	0	0	0	0	0	0	0	1	14864	1190	42	3		3	SNRNP40	1	31744332	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	21023768	31744332	217506289	2	5788											
LRRC7	57554	genome.wustl.edu	37	chr1	70226053	70226053	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagctttatctagatgccAatcaaattgaagaactaccc	7	9	2	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr1:70226053A>T	ENST00000035383.5	+	1	196	c.166A>T	c.(166-168)Aat>Tat	p.N56Y	LRRC7_ENST00000370958.1_Missense_Mutation_p.N94Y|LRRC7_ENST00000310961.5_Missense_Mutation_p.N61Y|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	56						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTAGATGCCAATCAAATTGA	0.333																																																	0								ENSG00000033122						77	78	77					1																	70226053		2203	4299	6502	LRRC7	SO:0001583	missense	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.166A>T	1.37:g.70226053A>T	ENSP00000035383:p.Asn56Tyr	Somatic	0	38	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.N56Y	ENST00000035383.5	37	c.166	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303994	0.81136	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.62232	1.37;0.04;1.65	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.995;1.0	D	0.85298	0.1071	10	0.87932	D	0	.	14.8723	0.70468	1.0:0.0:0.0:0.0	.	56;94	Q96NW7;B1AKT2	LRRC7_HUMAN;.	Y	61;94;56;56	ENSP00000309245:N61Y;ENSP00000359997:N94Y;ENSP00000035383:N56Y	ENSP00000035383:N56Y	N	+	1	0	LRRC7	69998641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.197000	0.70478	0.477000	0.44152	AAT	-	smart_Leu-rich_rpt_typical-subtyp		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	A	NM_020794	-		70226053	1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70226053	A	T	70226053	3	4	100	1	0	0	0	0	1	0	0	0	9022	130	5	5	168	5	LRRC7	1	70226053	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09	38481721	70226053	179024568	3	5789											
C1orf27	54953	genome.wustl.edu	37	chr1	186367574	186367574	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttaaagatgctgtgcagGtacaaaaaggaataacgagc	11	5	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr1:186367574G>A	ENST00000287859.6	+	10	1034		c.e10+1		C1orf27_ENST00000432021.3_Splice_Site|OCLM_ENST00000574641.1_5'Flank|C1orf27_ENST00000367470.3_Splice_Site|AL596220.1_ENST00000598663.1_5'Flank|C1orf27_ENST00000419367.3_Splice_Site	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27							integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TGCTGTGCAGGTACAAAAAGG	0.333																																																	0								ENSG00000157181						80	73	75					1																	186367574		1849	4099	5948	C1orf27	SO:0001630	splice_region_variant	0			-	HGNC	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.909+1G>A	1.37:g.186367574G>A		Somatic	0	55	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Splice_Site	SNP							-	e9+1	ENST00000287859.6	37	c.909+1	CCDS53448.1	1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717318	0.48622	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5266	0.90975	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf27	184634197	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.454000	0.80714	2.359000	0.80004	0.467000	0.42956	.	-	-		0.333	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C1orf27	protein_coding	OTTHUMT00000086352.2	G	NM_017847	-	Intron	186367574	1	no_errors	ENST00000287859	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	186367574	G	A	186367574	5	1	100	1	0	0	0	0	0	0	1	0	2038	1275	44	2	944	2	C1orf27	1	186367574	Splice_Site	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	116141521	186367574	62883047	4	5790											
ANGEL2	90806	genome.wustl.edu	37	chr1	213168525	213168525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagccaccaaccaaagcaActtcagctcctacattaaag	4	14	2	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr1:213168525A>G	ENST00000366962.3	-	9	1647	c.1493T>C	c.(1492-1494)gTt>gCt	p.V498A	ANGEL2_ENST00000544555.1_Missense_Mutation_p.V329A|ANGEL2_ENST00000535388.1_3'UTR|ANGEL2_ENST00000540642.1_Missense_Mutation_p.V372A|ANGEL2_ENST00000473303.1_5'UTR|ANGEL2_ENST00000360506.2_Missense_Mutation_p.V329A	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	498										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		AACCAAAGCAACTTCAGCTCC	0.343																																																	0								ENSG00000174606						107	107	107					1																	213168525		2203	4300	6503	ANGEL2	SO:0001583	missense	0			-	HGNC	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1493T>C	1.37:g.213168525A>G	ENSP00000355929:p.Val498Ala	Somatic	0	29	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.V498A	ENST00000366962.3	37	c.1493	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	A	6.616	0.482042	0.12581	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642	T;D;D;T	0.95137	1.95;-3.62;-3.62;1.58	5.75	3.43	0.39272	Endonuclease/exonuclease/phosphatase (2);	0.376505	0.28442	N	0.015334	D	0.85687	0.5754	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.16802	0.004;0.019	B;B	0.22152	0.012;0.038	T	0.69143	-0.5223	10	0.06625	T	0.88	-10.9649	6.1939	0.20540	0.6269:0.0:0.0714:0.3016	.	372;498	F5H476;Q5VTE6	.;ANGE2_HUMAN	A	498;329;329;372	ENSP00000355929:V498A;ENSP00000353696:V329A;ENSP00000443193:V329A;ENSP00000446124:V372A	ENSP00000353696:V329A	V	-	2	0	ANGEL2	211235148	0.001000	0.12720	0.977000	0.42913	0.935000	0.57460	0.728000	0.26013	0.446000	0.26666	-0.757000	0.03467	GTT	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.343	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	protein_coding	OTTHUMT00000089693.1	A	NM_144567	-		213168525	-1	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	SNP	0.015	G	G	213168525	A	G	213168525	3	3	100	1	0	0	0	0	1	0	0	0	609	43	2	5	145	5	ANGEL2	1	213168525	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09	26800951	213168525	36082096	5	5791											
ABCB10	23456	genome.wustl.edu	37	chr1	229667402	229667402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttaaaaggcagcttgggCtctctctccaggagctccca	10	14	2	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr1:229667402C>T	ENST00000344517.4	-	7	1458	c.1416G>A	c.(1414-1416)gaG>gaA	p.E472E		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	472					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GCAGCTTGGGCTCTCTCTCCA	0.517																																																	0								ENSG00000135776						92	99	97					1																	229667402		2203	4300	6503	ABCB10	SO:0001819	synonymous_variant	0			-	HGNC	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1416G>A	1.37:g.229667402C>T		Somatic	0	55	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	Q13040|Q6P1Q8|Q9H3V0	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E472	ENST00000344517.4	37	c.1416	CCDS1580.1	1																																																																																			-	superfamily_ABC1_TM_dom		0.517	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	protein_coding	OTTHUMT00000095240.1	C	NM_012089	-		229667402	-1	no_errors	ENST00000344517	ensembl	human	known	74_37	silent	SNP	0.996	T	T	229667402	C	T	229667402	2	4	100	1	0	0	0	0	0	0	0	1	41	796	28	2		2	ABCB10	1	229667402	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	16498877	229667402	19583219	6	5792											
TRMT61B	55006	genome.wustl.edu	37	chr2	29092575	29092575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacttccccacgatcttgCcgaacgggactgccccccag	10	17	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr2:29092575C>T	ENST00000306108.5	-	1	592	c.569G>A	c.(568-570)gGc>gAc	p.G190D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	190					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CACGATCTTGCCGAACGGGAC	0.468																																																	0								ENSG00000171103						89	96	94					2																	29092575		2203	4300	6503	TRMT61B	SO:0001583	missense	0			-	HGNC	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.569G>A	2.37:g.29092575C>T	ENSP00000302801:p.Gly190Asp	Somatic	0	42	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q9H0Q9|Q9NWS7	Missense_Mutation	SNP							pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.G190D	ENST00000306108.5	37	c.569	CCDS1768.1	2	.	.	.	.	.	.	.	.	.	.	C	3.017	-0.202650	0.06219	.	.	ENSG00000171103	ENST00000306108	T	0.18960	2.18	5.5	4.51	0.55191	.	0.575576	0.18415	N	0.141946	T	0.03695	0.0105	N	0.00223	-1.815	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37865	-0.9687	10	0.02654	T	1	.	7.7347	0.28806	0.1627:0.7295:0.0:0.1078	.	190;190	F8WDR2;Q9BVS5	.;TR61B_HUMAN	D	190	ENSP00000302801:G190D	ENSP00000302801:G190D	G	-	2	0	TRMT61B	28946079	0.093000	0.21703	0.881000	0.34555	0.880000	0.50808	0.170000	0.16663	2.590000	0.87494	0.561000	0.74099	GGC	-	pfam_tRNA_MeTrfase_GCD14		0.468	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	protein_coding	OTTHUMT00000250224.1	C	NM_017910	-		29092575	-1	no_errors	ENST00000306108	ensembl	human	known	74_37	missense	SNP	0.506	T	T	29092575	C	T	29092575	3	4	100	1	0	0	0	0	1	0	0	0	16577	739	26	2	892	2	TRMT61B	2	29092575	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09		29092575	214106798	7	5793											
LY75	4065	genome.wustl.edu	37	chr2	160698813	160698813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggatgtaaaattccAcgtcccagtaaacggtgatt	9	9	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr2:160698813A>G	ENST00000263636.4	-	24	3250	c.3223T>C	c.(3223-3225)Tgg>Cgg	p.W1075R	LY75_ENST00000554112.1_Missense_Mutation_p.W1075R|LY75_ENST00000553424.1_Missense_Mutation_p.W1075R|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.W1075R|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.W1075R	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1075	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTAAAATTCCACGTCCCAGTA	0.378																																																	0								ENSG00000054219						101	101	101					2																	160698813		2203	4300	6503	LY75	SO:0001583	missense	0			-	HGNC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3223T>C	2.37:g.160698813A>G	ENSP00000263636:p.Trp1075Arg	Somatic	0	66	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.W1075R	ENST00000263636.4	37	c.3223	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	A	19.37	3.813718	0.70912	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.37	5.37	0.77165	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.31268	U	0.007959	D	0.84374	0.5458	H	0.95043	3.615	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.973;1.0;0.999	D	0.88675	0.3198	10	0.87932	D	0	-1.349	12.8894	0.58064	1.0:0.0:0.0:0.0	.	1075;1075;1075	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	R	1075	ENSP00000451511:W1075R;ENSP00000451446:W1075R;ENSP00000263636:W1075R;ENSP00000423463:W1075R;ENSP00000421035:W1075R	ENSP00000423463:W1075R	W	-	1	0	LY75;LY75-CD302	160407059	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	5.590000	0.67530	2.039000	0.60335	0.528000	0.53228	TGG	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.378	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	A		-		160698813	-1	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	SNP	0.987	G	G	160698813	A	G	160698813	3	3	100	1	0	0	0	0	1	0	0	0	9101	159	6	5	1993	5	LY75	2	160698813	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09	131606238	160698813	82500560	8	5794											
NRP2	8828	genome.wustl.edu	37	chr2	206588537	206588537	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgattggcaagtactgtggGaccaaaacaccctctgaact	9	11	1	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr2:206588537G>T	ENST00000357785.5	+	5	724	c.693G>T	c.(691-693)ggG>ggT	p.G231G	NRP2_ENST00000357118.4_Silent_p.G231G|NRP2_ENST00000355117.4_Silent_p.G231G|NRP2_ENST00000360409.3_Silent_p.G231G|NRP2_ENST00000540841.1_Silent_p.G231G|NRP2_ENST00000412873.2_Silent_p.G231G|NRP2_ENST00000417189.1_Silent_p.G231G|NRP2_ENST00000272849.3_Silent_p.G231G|NRP2_ENST00000540178.1_Silent_p.G231G			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGTACTGTGGGACCAAAACAC	0.502																																																	0								ENSG00000118257						108	94	99					2																	206588537		2203	4300	6503	NRP2	SO:0001819	synonymous_variant	0			-	HGNC	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.693G>T	2.37:g.206588537G>T		Somatic	0	60	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP							pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.G231	ENST00000357785.5	37	c.693	CCDS46496.1	2																																																																																			-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	protein_coding	OTTHUMT00000336467.1	G		-		206588537	1	no_errors	ENST00000360409	ensembl	human	known	74_37	silent	SNP	0.962	T	T	206588537	G	T	206588537	2	4	100	1	0	0	0	0	0	0	0	1	10663	1161	41	3		3	NRP2	2	206588537	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	45889724	206588537	36610836	9	5795											
LSAMP	4045	genome.wustl.edu	37	chr3	116163774	116163774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgttgtccgtgcctcgGttaaaatccacgctgcgaac	11	11	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr3:116163774G>A	ENST00000490035.2	-	1	604	c.105C>T	c.(103-105)aaC>aaT	p.N35N	LSAMP_ENST00000539563.1_Silent_p.N32N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	35	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCGTGCCTCGGTTAAAATCCA	0.572																																																	0								ENSG00000185565						109	90	96					3																	116163774		2203	4300	6503	LSAMP	SO:0001819	synonymous_variant	0			-	HGNC	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.105C>T	3.37:g.116163774G>A		Somatic	0	39	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8IV49	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N35	ENST00000490035.2	37	c.105	CCDS2982.1	3																																																																																			-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.572	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	protein_coding	OTTHUMT00000354495.4	G	NM_002338	-		116163774	-1	no_errors	ENST00000490035	ensembl	human	known	74_37	silent	SNP	1.000	A	A	116163774	G	A	116163774	2	1	100	1	0	0	0	0	0	0	0	1	9050	1252	44	2		2	LSAMP	3	116163774	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		116163774	81858656	10	5796											
PPP2R3A	5523	genome.wustl.edu	37	chr3	135806749	135806749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaagcaggattattgaaaGgatattctctggtgcagtaa	10	5	2	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr3:135806749G>T	ENST00000264977.3	+	9	3430	c.2813G>T	c.(2812-2814)aGg>aTg	p.R938M	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.R202M|RP11-305O4.3_ENST00000608883.1_RNA|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.R317M	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	938					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTATTGAAAGGATATTCTCT	0.313																																																	0								ENSG00000073711						153	153	153					3																	135806749		2203	4300	6503	PPP2R3A	SO:0001583	missense	0			-	HGNC	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2813G>T	3.37:g.135806749G>T	ENSP00000264977:p.Arg938Met	Somatic	0	46	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.R938M	ENST00000264977.3	37	c.2813	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.110229	0.94292	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.56611	0.45;0.45;0.45	5.98	5.98	0.97165	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.87890	0.2683	10	0.87932	D	0	.	19.4402	0.94817	0.0:0.0:1.0:0.0	.	317;938	Q06190-2;Q06190	.;P2R3A_HUMAN	M	938;202;317	ENSP00000264977:R938M;ENSP00000419344:R202M;ENSP00000334748:R317M	ENSP00000264977:R938M	R	+	2	0	PPP2R3A	137289439	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.543000	0.98089	2.838000	0.97847	0.591000	0.81541	AGG	-	NULL		0.313	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	protein_coding	OTTHUMT00000357232.1	G	NM_002718	-		135806749	1	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135806749	G	T	135806749	3	4	100	1	0	0	0	0	1	0	0	0	12393	1000	35	3	2979	3	PPP2R3A	3	135806749	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	19642975	135806749	62215681	11	5797											
PEX5L	51555	genome.wustl.edu	37	chr3	179525571	179525571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacggcttcctcgctgcGgtctccgttcgccaaggtcg	11	17	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr3:179525571G>A	ENST00000467460.1	-	14	1897	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.R488C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R521C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R464C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R415C|PEX5L_ENST00000465751.1_Missense_Mutation_p.R499C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R331C|PEX5L_ENST00000392649.3_Missense_Mutation_p.R415C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R480C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	523					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCTCGCTGCGGTCTCCGTTC	0.532																																																	0								ENSG00000114757						122	128	126					3																	179525571		2203	4300	6503	PEX5L	SO:0001583	missense	0			-	HGNC	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1567C>T	3.37:g.179525571G>A	ENSP00000419975:p.Arg523Cys	Somatic	0	27	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R523C	ENST00000467460.1	37	c.1567	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937309	0.92458	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.91;0.91;0.997;0.998;0.997;0.999	D	0.93172	0.6567	10	0.87932	D	0	-13.8905	16.059	0.80826	0.0:0.1332:0.8668:0.0	.	464;499;415;521;488;523	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	C	523;521;488;521;415;331;480;411;464;415;499	ENSP00000419975:R523C;ENSP00000263962:R521C;ENSP00000418440:R488C;ENSP00000376420:R415C;ENSP00000418665:R331C;ENSP00000420555:R480C;ENSP00000418054:R464C;ENSP00000417270:R415C;ENSP00000419348:R499C	ENSP00000263962:R521C	R	-	1	0	PEX5L	181008265	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.929000	0.87595	2.890000	0.99128	0.585000	0.79938	CGC	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.532	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	protein_coding	OTTHUMT00000348577.1	G	NM_016559	-		179525571	-1	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179525571	G	A	179525571	3	1	100	1	0	0	0	0	1	0	0	0	11751	1116	39	1	321	1	PEX5L	3	179525571	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	43718822	179525571	18496859	12	5798											
PARL	55486	genome.wustl.edu	37	chr3	183551567	183551567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggcaagcctcccttctGggatcttagtgcagacagct	10	11	2	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr3:183551567G>A	ENST00000317096.4	-	8	935	c.875C>T	c.(874-876)cCa>cTa	p.P292L	PARL_ENST00000435888.1_Intron|PARL_ENST00000311101.5_Missense_Mutation_p.P242L	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	292					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.P292Q(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCCCTTCTGGGATCTTAGT	0.468																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000175193						93	87	89					3																	183551567		2203	4300	6503	PARL	SO:0001583	missense	0			-	HGNC	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.875C>T	3.37:g.183551567G>A	ENSP00000325421:p.Pro292Leu	Somatic	0	30	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP							pfam_Peptidase_S54_rhomboid_dom	p.P292L	ENST00000317096.4	37	c.875	CCDS3248.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.296686	0.95574	.	.	ENSG00000175193	ENST00000317096;ENST00000311101	T;T	0.12984	2.63;2.63	5.54	5.54	0.83059	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.70985	-0.4723	10	0.87932	D	0	-12.9779	19.8379	0.96666	0.0:0.0:1.0:0.0	.	242;292	Q9H300-2;Q9H300	.;PARL_HUMAN	L	292;242	ENSP00000325421:P292L;ENSP00000310676:P242L	ENSP00000310676:P242L	P	-	2	0	PARL	185034261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CCA	-	pfam_Peptidase_S54_rhomboid_dom		0.468	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	protein_coding	OTTHUMT00000346465.1	G	NM_018622	-		183551567	-1	no_errors	ENST00000317096	ensembl	human	known	74_37	missense	SNP	1.000	A	A	183551567	G	A	183551567	3	1	100	1	0	0	0	0	1	0	0	0	11453	1348	47	2	276	2	PARL	3	183551567	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	4025996	183551567	14470863	13	5799											
THAP6	152815	genome.wustl.edu	37	chr4	76442147	76442147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatattaaactgaaaccTggagtcataccttctatctt	4	10	3	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr4:76442147T>C	ENST00000311638.3	+	3	314	c.246T>C	c.(244-246)ccT>ccC	p.P82P	THAP6_ENST00000508105.1_Silent_p.P41P|THAP6_ENST00000514480.1_Silent_p.P82P|RCHY1_ENST00000380840.2_5'Flank|THAP6_ENST00000507557.1_Silent_p.P41P|RCHY1_ENST00000324439.5_5'Flank|RCHY1_ENST00000512706.1_5'Flank|THAP6_ENST00000380837.3_Silent_p.P82P|RCHY1_ENST00000514021.1_5'Flank|THAP6_ENST00000502620.1_Silent_p.P41P|RCHY1_ENST00000513257.1_5'Flank|RCHY1_ENST00000451788.1_5'Flank|THAP6_ENST00000504190.1_Silent_p.P41P|THAP6_ENST00000507885.1_Silent_p.P41P|THAP6_ENST00000507556.1_Silent_p.P82P	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	82						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AACTGAAACCTGGAGTCATAC	0.363																																																	0								ENSG00000174796						100	107	105					4																	76442147		2203	4300	6503	THAP6	SO:0001819	synonymous_variant	0			-	HGNC	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"THAP (C2CH-type zinc finger) domain containing"	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.246T>C	4.37:g.76442147T>C		Somatic	0	64	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B4E146|Q5HYJ7|Q5JPC6	Silent	SNP							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P82	ENST00000311638.3	37	c.246	CCDS3568.1	4																																																																																			-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.363	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP6	protein_coding	OTTHUMT00000252414.1	T	NM_144721	-		76442147	1	no_errors	ENST00000311638	ensembl	human	known	74_37	silent	SNP	1.000	C	C	76442147	T	C	76442147	2	2	100	1	0	0	0	0	0	0	0	1	15855	1567	55	5		5	THAP6	4	76442147	Silent	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09		76442147	114712129	14	5800											
C4orf22	255119	genome.wustl.edu	37	chr4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacaagataattttctgaCggccctggcaatgagagaag	10	9	1	4	rs142731425		TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353													C|||	1	0.000199681	0	0.0014	5008	,	,		13447	0		0	False		,,,				2504	0																0								ENSG00000197826	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	81	80	80		287,287	1.8	1	4	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C4orf22	NM_001206997.1,NM_152770.2	81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	96/251,96/234	81504291	2,13004	2203	4300	6503	C4orf22	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.287C>T	4.37:g.81504291C>T	ENSP00000350818:p.Thr96Met	Somatic	0	44	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	6	61.11	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP							NULL	p.T96M	ENST00000358105.3	37	c.287	CCDS3587.1	4	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036334	0.07497	2.27E-4	1.16E-4	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.55	1.79	0.24919	.	0.190189	0.43110	N	0.000604	T	0.12092	0.0294	N	0.08118	0	0.26925	N	0.966598	B;B	0.20887	0.039;0.049	B;B	0.19391	0.021;0.025	T	0.16188	-1.0411	10	0.27082	T	0.32	.	3.2936	0.06958	0.5331:0.2648:0.0705:0.1316	.	96;96	E7EQ13;Q6V702	.;CD022_HUMAN	M	96	ENSP00000350818:T96M;ENSP00000425786:T96M	ENSP00000350818:T96M	T	+	2	0	C4orf22	81723315	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	1.547000	0.36190	0.171000	0.19730	-2.610000	0.00160	ACG	-	NULL		0.353	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	protein_coding	OTTHUMT00000252629.2	C	NM_152770	rs142731425		81504291	1	no_errors	ENST00000508675	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81504291	C	T	81504291	3	4	100	1	0	0	0	0	1	0	0	0	2257	536	19	1	297	1	C4orf22	4	81504291	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	5062144	81504291	109649985	15	5801											
ADH1A	124	genome.wustl.edu	37	chr4	100200649	100200649	+	Frame_Shift_Del	DEL	A	A	-													aaggtaaaacatgggttattAatgcatccaatgaaaacttc							TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr4:100200649delA	ENST00000209668.2	-	8	1150	c.1037delT	c.(1036-1038)ttafs	p.L346fs	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	346					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	ATGGGTTATTAATGCATCCAA	0.318																																																	0								ENSG00000187758						99	102	101					4																	100200649		2203	4299	6502	ADH1A	SO:0001589	frameshift_variant	0				HGNC	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.1037delT	4.37:g.100200649delA	ENSP00000209668:p.Leu346fs	Somatic	0	59	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K3E3|Q17R68	Frame_Shift_Del	DEL							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.L346fs	ENST00000209668.2	37	c.1037	CCDS3648.1	4																																																																																			-	superfamily_GroES-like,smart_PKS_ER		0.318	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1A	protein_coding	OTTHUMT00000253669.1	A	NM_000667			100200649	-1	no_errors	ENST00000209668	ensembl	human	known	74_37	frame_shift_del	DEL	0.923	-	-	100200649	A	-	100200649	7	5	100	1	0	1	0	1	0	0	0	0	307	372	13	0	98	0	ADH1A	4	100200649	Frame_Shift_Del	DEL	A	TCGA-DX-A8BN-01A-11D-A37C-09	18696358	100200649	90953627	16	5802											
SEPT8	23176	genome.wustl.edu	37	chr5	132097299	132097299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagcttcacgaagtcGcagtgattctcattctccac	7	15	3	1	rs75721931	byFrequency	TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr5:132097299G>T	ENST00000378719.2	-	7	1050	c.813C>A	c.(811-813)tgC>tgA	p.C271*	SEPT8_ENST00000378699.2_Nonsense_Mutation_p.C211*|SEPT8_ENST00000448933.1_Nonsense_Mutation_p.C211*|SEPT8_ENST00000378701.1_Nonsense_Mutation_p.C269*|SEPT8_ENST00000378721.4_Nonsense_Mutation_p.C269*|SEPT8_ENST00000458488.2_Nonsense_Mutation_p.C271*|SEPT8_ENST00000296873.7_Nonsense_Mutation_p.C271*|SEPT8_ENST00000378706.1_Nonsense_Mutation_p.C271*|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	271	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACGAAGTCGCAGTGATTCT	0.617																																																	0								ENSG00000164402						55	61	59					5																	132097299		2193	4295	6488	SEPT8	SO:0001587	stop_gained	0			-	HGNC	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.813C>A	5.37:g.132097299G>T	ENSP00000367991:p.Cys271*	Somatic	0	37	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Nonsense_Mutation	SNP							pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.C271*	ENST00000378719.2	37	c.813	CCDS43358.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.785515	0.96937	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	.	.	.	5.28	-2.57	0.06248	.	0.148962	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9372	0.29937	0.6868:0.1183:0.1949:0.0	.	.	.	.	X	271;269;271;211;271;211;269;271	.	ENSP00000296873:C271X	C	-	3	2	SEPT8	132125198	0.193000	0.23313	0.971000	0.41717	0.995000	0.86356	-0.219000	0.09228	-0.399000	0.07668	0.561000	0.74099	TGC	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin		0.617	SEPT8-002	KNOWN	basic|CCDS	protein_coding	SEPT8	protein_coding	OTTHUMT00000132827.2	G	XM_034872	-		132097299	-1	no_errors	ENST00000378719	ensembl	human	known	74_37	nonsense	SNP	0.928	T	T	132097299	G	T	132097299	4	4	100	1	0	0	0	0	0	1	0	0	14078	1079	38	3	709	3	SEPT8	5	132097299	Nonsense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		132097299	48817961	17	5803											
ID4	3400	genome.wustl.edu	37	chr6	19838106	19838108	+	In_Frame_Del	DEL	GCG	GCG	-													gcctgggtggctccgcagccGcggcggcggcggcggcggca							TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	GCG	GCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr6:19838106_19838108delGCG	ENST00000378700.3	+	1	490_492	c.121_123delGCG	c.(121-123)gcgdel	p.A48del	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	48	Poly-Ala.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CTCCGCAGCCgcggcggcggcgg	0.788																																					Esophageal Squamous(13;105 518 19978 28644 46870)												0								ENSG00000172201			0,152		0,0,76						-2.7	0.9			1	16,642		6,4,319	no	coding	ID4	NM_001546.2		6,4,395	A1A1,A1R,RR		2.4316,0.0,1.9753				16,794				ID4	SO:0001651	inframe_deletion	0				HGNC	U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"Basic helix-loop-helix proteins"	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.121_123delGCG	6.37:g.19838115_19838117delGCG	ENSP00000367972:p.Ala48del	Somatic	0	13	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q13005	In_Frame_Del	DEL							pfam_bHLH_dom,superfamily_bHLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_bHLH_dom,pfscan_bHLH_dom	p.A44in_frame_del	ENST00000378700.3	37	c.121_123	CCDS4544.1	6																																																																																			-	superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.788	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID4	protein_coding	OTTHUMT00000039979.1	GCG	NM_001546			19838108	1	no_errors	ENST00000378700	ensembl	human	known	74_37	in_frame_del	DEL	0.988:0.989:0.984	-	-	19838108	GCG	-	19838106	7	5	100	1	0	1	0	1	0	0	0	0	7494	1087	38	0	123	0	ID4	6	19838106	In_Frame_Del	DEL	GCG	TCGA-DX-A8BN-01A-11D-A37C-09		19838106	151276961	18	5804											
TNXB	7148	genome.wustl.edu	37	chr6	32023775	32023775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcacctggggccgcccgtCcctgtccttgtactgcacgg	11	17	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr6:32023775C>T	ENST00000375244.3	-	24	8521	c.8320G>A	c.(8320-8322)Gac>Aac	p.D2774N	TNXB_ENST00000375247.2_Missense_Mutation_p.D2774N			P22105	TENX_HUMAN	tenascin XB	2832	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCCCGTCCCTGTCCTTG	0.657																																																	0								ENSG00000168477						65	71	69					6																	32023775		1284	2558	3842	TNXB	SO:0001583	missense	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8320G>A	6.37:g.32023775C>T	ENSP00000364393:p.Asp2774Asn	Somatic	0	55	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	42	61.47	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D2774N	ENST00000375244.3	37	c.8320		6	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968721	0.53614	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.48;0.48	5.0	3.11	0.35812	.	.	.	.	.	T	0.25382	0.0617	L	0.59967	1.855	0.23309	N	0.997933	B	0.14805	0.011	B	0.15052	0.012	T	0.17319	-1.0373	9	0.26408	T	0.33	.	7.7348	0.28808	0.1593:0.7535:0.0:0.0873	.	2774	P22105-3	.	N	2774	ENSP00000364393:D2774N;ENSP00000364396:D2774N	ENSP00000364393:D2774N	D	-	1	0	TNXB	32131753	0.012000	0.17670	0.988000	0.46212	0.958000	0.62258	1.021000	0.30040	1.070000	0.40811	0.456000	0.33151	GAC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	C	NM_019105	-		32023775	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	SNP	0.925	T	T	32023775	C	T	32023775	3	4	100	1	0	0	0	0	1	0	0	0	16353	855	30	2	6477	2	TNXB	6	32023775	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	12185669	32023775	139091292	19	5805											
ENPP1	5167	genome.wustl.edu	37	chr6	132196961	132196961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattcaagcatggcattgagGctgacacctttgaaaacatt	9	8	1	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr6:132196961G>T	ENST00000360971.2	+	17	1701	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	561	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|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 ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGCATTGAGGCTGACACCTT	0.413																																					Colon(104;336 1535 5856 11019 33782)												0								ENSG00000197594						146	139	141					6																	132196961		2203	4300	6503	ENPP1	SO:0001583	missense	0			-	HGNC	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1681G>T	6.37:g.132196961G>T	ENSP00000354238:p.Ala561Ser	Somatic	0	46	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.A561S	ENST00000360971.2	37	c.1681	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749169	0.69533	.	.	ENSG00000197594	ENST00000360971	T	0.74842	-0.88	6.16	5.3	0.74995	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.118785	0.56097	D	0.000023	T	0.47229	0.1434	N	0.20845	0.615	0.21782	N	0.999545	B;B	0.30584	0.286;0.001	B;B	0.31390	0.129;0.003	T	0.51426	-0.8707	10	0.59425	D	0.04	-13.3579	15.4266	0.75055	0.0669:0.0:0.9331:0.0	.	561;191	P22413;Q7Z3P5	ENPP1_HUMAN;.	S	561	ENSP00000354238:A561S	ENSP00000354238:A561S	A	+	1	0	ENPP1	132238654	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.178000	0.65037	1.623000	0.50342	0.650000	0.86243	GCT	-	superfamily_Alkaline_phosphatase_core		0.413	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	protein_coding	OTTHUMT00000042238.2	G		-		132196961	1	no_errors	ENST00000360971	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132196961	G	T	132196961	3	4	100	1	0	0	0	0	1	0	0	0	5131	1203	42	3	1747	3	ENPP1	6	132196961	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	100173186	132196961	38918106	20	5806											
VIP	7432	genome.wustl.edu	37	chr6	153077274	153077274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgttccttagcagtaAcatctcagaagaccctgtac	6	13	2	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr6:153077274A>T	ENST00000367244.3	+	5	513	c.341A>T	c.(340-342)aAc>aTc	p.N114I	VIP_ENST00000367243.3_Missense_Mutation_p.N113I	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	114					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTAGCAGTAACATCTCAGAA	0.383																																																	0								ENSG00000146469						84	89	87					6																	153077274		2203	4300	6503	VIP	SO:0001583	missense	0			-	HGNC		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.341A>T	6.37:g.153077274A>T	ENSP00000356213:p.Asn114Ile	Somatic	0	42	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP							pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.N114I	ENST00000367244.3	37	c.341	CCDS5240.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.36|15.36	2.811563|2.811563	0.50527|0.50527	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	T;T|.	0.26067|.	1.81;1.76|.	6.16|6.16	-10.4|-10.4	0.00318|0.00318	.|.	0.788122|.	0.12465|.	N|.	0.466509|.	T|.	0.15478|.	0.0373|.	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	P;P;B|.	0.42993|.	0.694;0.797;0.021|.	B;B;B|.	0.37943|.	0.189;0.261;0.012|.	T|.	0.22452|.	-1.0216|.	10|.	0.54805|.	T|.	0.06|.	.|.	3.654|3.654	0.08214|0.08214	0.2522:0.2868:0.3649:0.0961|0.2522:0.2868:0.3649:0.0961	.|.	113;113;114|.	A8K7E4;P01282-2;P01282|.	.;.;VIP_HUMAN|.	I|Y	114;113|63	ENSP00000356213:N114I;ENSP00000356212:N113I|.	ENSP00000356212:N113I|.	N|X	+|+	2|3	0|2	VIP|VIP	153118967|153118967	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	0.345000|0.345000	0.19979|0.19979	-1.600000|-1.600000	0.01603|0.01603	-0.297000|-0.297000	0.09499|0.09499	AAC|TAA	-	NULL		0.383	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	protein_coding	OTTHUMT00000042751.1	A		-		153077274	1	no_errors	ENST00000367244	ensembl	human	known	74_37	missense	SNP	0.000	T	T	153077274	A	T	153077274	3	4	100	1	0	0	0	0	1	0	0	0	17174	43	2	5	355	5	VIP	6	153077274	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09	20880313	153077274	18037793	21	5807											
PAPOLB	56903	genome.wustl.edu	37	chr7	4901098	4901098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacgcacaaggcgtcaAtatctgcgcctttcgtatgt	10	11	2	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr7:4901098A>G	ENST00000404991.1	-	1	527	c.341T>C	c.(340-342)aTt>aCt	p.I114T	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	114					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGGCGTCAATATCTGCGCC	0.423																																																	0								ENSG00000218823						85	85	85					7																	4901098		2091	4258	6349	PAPOLB	SO:0001583	missense	0			-	HGNC	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.341T>C	7.37:g.4901098A>G	ENSP00000384700:p.Ile114Thr	Somatic	0	35	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	Q75LH1|Q8NE14	Missense_Mutation	SNP							pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.I114T	ENST00000404991.1	37	c.341		7	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870839	0.33069	.	.	ENSG00000218823	ENST00000404991	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	D	0.85353	0.5677	H	0.97635	4.045	0.80722	D	1	D	0.59357	0.985	P	0.61132	0.884	D	0.89466	0.3740	8	0.87932	D	0	.	11.4944	0.50400	1.0:0.0:0.0:0.0	.	115	A4D1Z6	.	T	114	.	ENSP00000384700:I114T	I	-	2	0	PAPOLB	4867624	1.000000	0.71417	0.883000	0.34634	0.091000	0.18340	8.925000	0.92832	2.044000	0.60594	0.477000	0.44152	ATT	-	pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase		0.423	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	protein_coding	OTTHUMT00000323797.1	A	NM_020144	-		4901098	-1	no_errors	ENST00000404991	ensembl	human	known	74_37	missense	SNP	1.000	G	G	4901098	A	G	4901098	3	3	100	1	0	0	0	0	1	0	0	0	11432	101	4	5	1573	5	PAPOLB	7	4901098	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09		4901098	154237565	22	5808											
HGF	3082	genome.wustl.edu	37	chr7	81392065	81392065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattcctagtacatctattaGcacattggtctgcagtattc	6	9	2	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr7:81392065G>T	ENST00000222390.5	-	2	438	c.212C>A	c.(211-213)gCt>gAt	p.A71D	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Missense_Mutation_p.A71D|HGF_ENST00000457544.2_Missense_Mutation_p.A71D|HGF_ENST00000444829.2_Missense_Mutation_p.A71D|HGF_ENST00000423064.2_Missense_Mutation_p.A71D|HGF_ENST00000354224.6_Missense_Mutation_p.A71D	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	71	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACATCTATTAGCACATTGGTC	0.308																																																	0								ENSG00000019991						197	179	185					7																	81392065		2203	4296	6499	HGF	SO:0001583	missense	0			-	HGNC		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.212C>A	7.37:g.81392065G>T	ENSP00000222390:p.Ala71Asp	Somatic	0	53	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP							pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A71D	ENST00000222390.5	37	c.212	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570238	0.86542	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.72	5.72	0.89469	PAN-1 domain (1);Apple-like (2);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.72894	2.215	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	0.91635	0.999;0.999;0.999;0.998;0.998	D	0.95211	0.8325	10	0.87932	D	0	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	106;71;71;71;71	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	D	71	ENSP00000222390:A71D;ENSP00000391238:A71D;ENSP00000389854:A71D;ENSP00000408270:A71D;ENSP00000413829:A71D;ENSP00000346164:A71D;ENSP00000396307:A71D;ENSP00000388592:A71D	ENSP00000222390:A71D	A	-	2	0	HGF	81230001	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.451000	0.73481	2.691000	0.91804	0.655000	0.94253	GCT	-	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app		0.308	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	protein_coding	OTTHUMT00000253315.2	G	NM_000601	-		81392065	-1	no_errors	ENST00000222390	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81392065	G	T	81392065	3	4	100	1	0	0	0	0	1	0	0	0	7087	971	34	3	2062	3	HGF	7	81392065	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	76490967	81392065	77746598	23	5809											
NAPEPLD	222236	genome.wustl.edu	37	chr7	102760030	102760030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtctacatacctcggtTcataagctccgatgggaata	10	9	2	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr7:102760030T>C	ENST00000417955.1	-	3	1089	c.935A>G	c.(934-936)gAa>gGa	p.E312G	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.E312G|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.E312G|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.E385G|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.E312G			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	312					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATACCTCGGTTCATAAGCTCC	0.348																																																	0								ENSG00000161048						54	54	54					7																	102760030		2203	4300	6503	NAPEPLD	SO:0001583	missense	0			-	HGNC	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.935A>G	7.37:g.102760030T>C	ENSP00000407112:p.Glu312Gly	Somatic	0	42	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q5CZ87|Q769K1	Missense_Mutation	SNP							NULL	p.E385G	ENST00000417955.1	37	c.1154	CCDS5729.1	7	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172330	0.38315	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.25	1.46	0.22682	.	0.517332	0.23648	N	0.045941	T	0.75012	0.3792	L	0.61387	1.9	0.43103	D	0.994791	P;B	0.41848	0.763;0.096	P;B	0.45794	0.493;0.261	T	0.69680	-0.5080	10	0.45353	T	0.12	-2.9589	7.4848	0.27425	0.0:0.0701:0.2709:0.659	.	385;312	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	G	312;312;312;312;385	ENSP00000340093:E312G;ENSP00000407112:E312G;ENSP00000419188:E312G;ENSP00000392775:E312G;ENSP00000414364:E385G	ENSP00000340093:E312G	E	-	2	0	NAPEPLD	102547266	0.997000	0.39634	0.957000	0.39632	0.911000	0.54048	1.426000	0.34870	0.092000	0.17331	0.482000	0.46254	GAA	-	NULL		0.348	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	protein_coding	OTTHUMT00000347904.1	T	NM_198990	-		102760030	-1	no_errors	ENST00000455523	ensembl	human	known	74_37	missense	SNP	0.919	C	C	102760030	T	C	102760030	3	2	100	1	0	0	0	0	1	0	0	0	10165	1783	62	5	258	5	NAPEPLD	7	102760030	Missense_Mutation	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	21367965	102760030	56378633	24	5810											
ORC5L	5001	genome.wustl.edu	37	chr7	103805705	103805705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgtgtttttttagaaagTtggttttcttgatttttcca	7	4	1	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr7:103805705T>C	ENST00000297431.4	-	11	1158	c.1016A>G	c.(1015-1017)aAc>aGc	p.N339S	ORC5_ENST00000545943.1_Missense_Mutation_p.N207S	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	339					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTTAGAAAGTTGGTTTTCTT	0.254																																																	0								ENSG00000164815						38	36	36					7																	103805705		2180	4263	6443	ORC5	SO:0001583	missense	0			-	HGNC		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1016A>G	7.37:g.103805705T>C	ENSP00000297431:p.Asn339Ser	Somatic	0	56	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A4D0P8|O60590|O95268	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.N339S	ENST00000297431.4	37	c.1016	CCDS5734.1	7	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733453	0.48939	.	.	ENSG00000164815	ENST00000297431;ENST00000545943	T;T	0.39787	2.08;1.06	5.04	5.04	0.67666	.	0.041746	0.85682	D	0.000000	T	0.31575	0.0801	L	0.38175	1.15	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.11494	-1.0585	10	0.08837	T	0.75	.	14.7283	0.69360	0.0:0.0:0.0:1.0	.	339	O43913	ORC5_HUMAN	S	339;207	ENSP00000297431:N339S;ENSP00000438018:N207S	ENSP00000297431:N339S	N	-	2	0	ORC5	103592941	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.773000	0.62331	2.008000	0.58898	0.454000	0.30748	AAC	-	NULL		0.254	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	protein_coding	OTTHUMT00000348286.1	T	NM_002553	-		103805705	-1	no_errors	ENST00000297431	ensembl	human	known	74_37	missense	SNP	1.000	C	C	103805705	T	C	103805705	3	2	100	1	0	0	0	0	1	0	0	0	11267	1725	60	5	307	5	ORC5L	7	103805705	Missense_Mutation	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	1045675	103805705	55332958	25	5811											
SND1	27044	genome.wustl.edu	37	chr7	127721533	127721533	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgatgacctgcacttctAcgtgcaggatgtggagaccg	12	11	1	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr7:127721533A>C	ENST00000354725.3	+	18	2284	c.2090A>C	c.(2089-2091)tAc>tCc	p.Y697S	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	697					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGCACTTCTACGTGCAGGAT	0.622																																																	0								ENSG00000197157						117	82	94					7																	127721533		2203	4300	6503	SND1	SO:0001583	missense	0			-	HGNC		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2090A>C	7.37:g.127721533A>C	ENSP00000346762:p.Tyr697Ser	Somatic	0	32	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	Q13122|Q96AG0	Missense_Mutation	SNP							pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.Y697S	ENST00000354725.3	37	c.2090	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002016	0.74932	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.13089	2.62;2.62	5.54	5.54	0.83059	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	M	0.70275	2.135	0.58432	D	0.999999	D	0.62365	0.991	D	0.76071	0.987	T	0.03278	-1.1053	10	0.39692	T	0.17	-12.9419	13.9049	0.63828	1.0:0.0:0.0:0.0	.	697	Q7KZF4	SND1_HUMAN	S	697;687;183	ENSP00000346762:Y697S;ENSP00000419327:Y183S	ENSP00000346762:Y697S	Y	+	2	0	SND1	127508769	1.000000	0.71417	0.962000	0.40283	0.991000	0.79684	6.740000	0.74832	2.234000	0.73211	0.459000	0.35465	TAC	-	pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN		0.622	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	protein_coding	OTTHUMT00000349148.1	A	NM_014390	-		127721533	1	no_errors	ENST00000354725	ensembl	human	known	74_37	missense	SNP	0.997	C	C	127721533	A	C	127721533	3	2	100	1	0	0	0	0	1	0	0	0	14852	391	14	5	2160	5	SND1	7	127721533	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09	23915828	127721533	31417130	26	5812											
TRPV6	55503	genome.wustl.edu	37	chr7	142571440	142571440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtggcctagctcctcggGgtcctctgtctggaagatga	14	10	2	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr7:142571440G>T	ENST00000359396.3	-	13	1794	c.1549C>A	c.(1549-1551)Ccc>Acc	p.P517T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	517					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCTCCTCGGGGTCCTCTGTC	0.587																																																	0								ENSG00000165125						189	174	179					7																	142571440		2203	4300	6503	TRPV6	SO:0001583	missense	0			-	HGNC	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1549C>A	7.37:g.142571440G>T	ENSP00000352358:p.Pro517Thr	Somatic	0	26	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.P517T	ENST00000359396.3	37	c.1549	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622553	0.46840	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.88818	-2.43	5.43	4.55	0.56014	Ion transport (1);	0.185881	0.47852	D	0.000203	D	0.90998	0.7169	M	0.76002	2.32	0.58432	D	0.999998	B	0.34349	0.45	P	0.45712	0.491	D	0.89031	0.3442	10	0.33940	T	0.23	-26.1853	13.4611	0.61227	0.0757:0.0:0.9243:0.0	.	517	Q9H1D0	TRPV6_HUMAN	T	517;349	ENSP00000352358:P517T	ENSP00000310825:P349T	P	-	1	0	TRPV6	142281562	1.000000	0.71417	0.990000	0.47175	0.347000	0.29111	5.406000	0.66357	1.273000	0.44346	0.655000	0.94253	CCC	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.587	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	protein_coding	OTTHUMT00000347662.1	G	NM_014274	-		142571440	-1	no_errors	ENST00000359396	ensembl	human	known	74_37	missense	SNP	1.000	T	T	142571440	G	T	142571440	3	4	100	1	0	0	0	0	1	0	0	0	16607	1232	43	3	640	3	TRPV6	7	142571440	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	14849907	142571440	16567223	27	5813											
XKR4	114786	genome.wustl.edu	37	chr8	56436473	56436473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggccacaagcaccctacGgtccatctccaacaaccgca	7	18	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr8:56436473G>A	ENST00000327381.6	+	3	1740	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	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	547						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)			AGCACCCTACGGTCCATCTCC	0.587																																																	0								ENSG00000206579						67	68	67					8																	56436473		2203	4300	6503	XKR4	SO:0001583	missense	0			-	HGNC	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.1640G>A	8.37:g.56436473G>A	ENSP00000328326:p.Arg547Gln	Somatic	0	44	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	Q96PZ8	Missense_Mutation	SNP							pfam_Transport_prot_XK	p.R547Q	ENST00000327381.6	37	c.1640	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289843	0.59976	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.85258	-1.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	L	0.42245	1.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.71656	0.974	D	0.89496	0.3760	10	0.54805	T	0.06	-0.557	20.3931	0.98965	0.0:0.0:1.0:0.0	.	547	Q5GH76	XKR4_HUMAN	Q	547	ENSP00000328326:R547Q	ENSP00000328326:R547Q	R	+	2	0	XKR4	56599027	1.000000	0.71417	0.954000	0.39281	0.018000	0.09664	8.062000	0.89475	2.824000	0.97209	0.655000	0.94253	CGG	-	NULL		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	protein_coding	OTTHUMT00000378129.2	G	NM_052898	-		56436473	1	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56436473	G	A	56436473	3	1	100	1	0	0	0	0	1	0	0	0	17440	1116	39	1	1650	1	XKR4	8	56436473	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		56436473	89927549	28	5814											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75941636	75941636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagctgtccagtatctgCagagcagcagtacatgctgg	11	11	2	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr8:75941636C>T	ENST00000262207.4	+	14	1803	c.1335C>T	c.(1333-1335)tgC>tgT	p.C445C	CRISPLD1_ENST00000523524.1_Silent_p.C257C|RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000517786.1_Silent_p.C259C	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	445	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.C445C(1)		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)			CCAGTATCTGCAGAGCAGCAG	0.413																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000121005						88	78	82					8																	75941636		2203	4300	6503	CRISPLD1	SO:0001819	synonymous_variant	0			-	HGNC	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.1335C>T	8.37:g.75941636C>T		Somatic	0	44	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2RA60|B7Z929	Silent	SNP							pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.C445	ENST00000262207.4	37	c.1335	CCDS6219.1	8																																																																																			-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL		0.413	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	C	NM_031461	-		75941636	1	no_errors	ENST00000262207	ensembl	human	known	74_37	silent	SNP	1.000	T	T	75941636	C	T	75941636	2	4	100	1	0	0	0	0	0	0	0	1	3884	718	25	2		2	CRISPLD1	8	75941636	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	19505163	75941636	70422386	29	5815											
RHPN1	114822	genome.wustl.edu	37	chr8	144461583	144461583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagctcatgatggcccagGcccaggaatgtgtgtttgag	14	9	1	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr8:144461583G>T	ENST00000289013.6	+	8	951	c.850G>T	c.(850-852)Gcc>Tcc	p.A284S		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	284	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GATGGCCCAGGCCCAGGAATG	0.672																																																	0								ENSG00000158106						19	22	21					8																	144461583		2018	4179	6197	RHPN1	SO:0001583	missense	0			-	HGNC	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.850G>T	8.37:g.144461583G>T	ENSP00000289013:p.Ala284Ser	Somatic	0	48	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q8TAV1|Q96PV9	Missense_Mutation	SNP							pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.A284S	ENST00000289013.6	37	c.850	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307897	0.81247	.	.	ENSG00000158106	ENST00000289013	T	0.53640	0.61	4.28	4.28	0.50868	.	0.062016	0.64402	D	0.000005	T	0.69940	0.3167	M	0.86953	2.85	0.53688	D	0.99997	D	0.61080	0.989	P	0.61658	0.892	T	0.77838	-0.2439	10	0.72032	D	0.01	-19.3294	16.0186	0.80464	0.0:0.0:1.0:0.0	.	284	Q8TCX5-2	.	S	284	ENSP00000289013:A284S	ENSP00000289013:A284S	A	+	1	0	RHPN1	144532726	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	5.392000	0.66272	2.099000	0.63709	0.436000	0.28706	GCC	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	protein_coding	OTTHUMT00000381417.1	G		-		144461583	1	no_errors	ENST00000289013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144461583	G	T	144461583	3	4	100	1	0	0	0	0	1	0	0	0	13358	1203	42	3	880	3	RHPN1	8	144461583	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	68519947	144461583	1902439	30	5816											
SEC16A	9919	genome.wustl.edu	37	chr9	139347922	139347922	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattttcttcgcttagctcGgaaagtgagtttccaacagg	9	8	1	1	rs144334278	byFrequency	TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr9:139347922G>T	ENST00000371706.3	-	20	5616	c.5583C>A	c.(5581-5583)tcC>tcA	p.S1861S	SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000431893.2_Silent_p.S1861S|SEC16A_ENST00000313050.7_Silent_p.S2039S|SEC16A_ENST00000290037.6_Silent_p.S1861S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1861	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGCTTAGCTCGGAAAGTGAGT	0.453																																																	0								ENSG00000148396						86	88	87					9																	139347922		1901	4120	6021	SEC16A	SO:0001819	synonymous_variant	0			-	HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5583C>A	9.37:g.139347922G>T		Somatic	0	66	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP							NULL	p.S2039	ENST00000371706.3	37	c.6117		9																																																																																			-	NULL		0.453	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055077.1	G	XM_088459	-		139347922	-1	no_errors	ENST00000313050	ensembl	human	known	74_37	silent	SNP	0.010	T	T	139347922	G	T	139347922	2	4	100	1	0	0	0	0	0	0	0	1	13994	1103	39	3		3	SEC16A	9	139347922	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		139347922	1865509	31	5817											
C10orf140	387640	genome.wustl.edu	37	chr10	21805720	21805720	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgAtggtggtggtggtggtggtg	26	0	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000444772.3_Silent_p.H265H|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																																	0								ENSG00000180592						4	6	5					10																	21805720		1658	3602	5260	SKIDA1	SO:0001819	synonymous_variant	0			-	HGNC	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1032T>C	10.37:g.21805720A>G		Somatic	0	32	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP							pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H344	ENST00000449193.2	37	c.1032	CCDS44363.1	10																																																																																			-	NULL		0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	protein_coding	OTTHUMT00000286950.2	A	NM_207371	-		21805720	-1	no_errors	ENST00000449193	ensembl	human	known	74_37	silent	SNP	0.972	G	G	21805720	A	G	21805720	2	3	100	1	0	0	0	0	0	0	0	1	1597	330	12	5		5	C10orf140	10	21805720	Silent	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09		21805720	113729027	32	5818											
KIAA1217	56243	genome.wustl.edu	37	chr10	24813596	24813596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtcgcaggctccgcAgtccccacagatacccatga	10	15	0	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr10:24813596A>G	ENST00000376454.3	+	13	2831	c.2801A>G	c.(2800-2802)cAg>cGg	p.Q934R	KIAA1217_ENST00000458595.1_Missense_Mutation_p.Q899R|KIAA1217_ENST00000376451.2_Missense_Mutation_p.Q617R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.Q617R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.Q617R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.Q617R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.Q899R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.Q854R|KIAA1217_ENST00000430453.2_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	934					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						CAGGCTCCGCAGTCCCCACAG	0.577																																																	0								ENSG00000120549						52	49	50					10																	24813596		2203	4300	6503	KIAA1217	SO:0001583	missense	0			-	HGNC	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.2801A>G	10.37:g.24813596A>G	ENSP00000365637:p.Gln934Arg	Somatic	0	34	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP							pfam_AIP3_C	p.Q934R	ENST00000376454.3	37	c.2801	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	A	9.180	1.023465	0.19433	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;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;0.86;0.86	5.0	0.943	0.19531	.	0.460479	0.22979	N	0.053326	T	0.42063	0.1186	L	0.56769	1.78	0.35255	D	0.779078	P;B;B;B;P;B;P;P	0.47962	0.478;0.323;0.418;0.001;0.673;0.33;0.903;0.467	B;B;B;B;B;B;P;B	0.45610	0.225;0.05;0.173;0.004;0.178;0.165;0.487;0.201	T	0.50056	-0.8872	10	0.18276	T	0.48	.	8.3541	0.32321	0.3298:0.5438:0.0:0.1264	.	899;899;617;617;617;617;934;934	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	R	854;899;899;617;934;899;749;617;617;617;617;617	ENSP00000365645:Q854R;ENSP00000365639:Q899R;ENSP00000392625:Q899R;ENSP00000365637:Q934R;ENSP00000365635:Q899R;ENSP00000404798:Q749R;ENSP00000302343:Q617R;ENSP00000379722:Q617R;ENSP00000365634:Q617R;ENSP00000379723:Q617R	ENSP00000302343:Q617R	Q	+	2	0	KIAA1217	24853602	0.288000	0.24324	0.930000	0.37139	0.262000	0.26303	0.277000	0.18734	0.216000	0.20781	0.459000	0.35465	CAG	-	NULL		0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	A	NM_019590	-		24813596	1	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	SNP	0.976	G	G	24813596	A	G	24813596	3	3	100	1	0	0	0	0	1	0	0	0	8218	188	7	5	2851	5	KIAA1217	10	24813596	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09	3007876	24813596	110721151	33	5819											
BTAF1	9044	genome.wustl.edu	37	chr10	93717044	93717044	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgacctttttaatccctcCtgggaggtaagatttcttca	7	9	2	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr10:93717044C>A	ENST00000265990.6	+	8	1202	c.894C>A	c.(892-894)tcC>tcA	p.S298S	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	298					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTAATCCCTCCTGGGAGGTAA	0.358																																																	0								ENSG00000095564						99	97	97					10																	93717044		2203	4300	6503	BTAF1	SO:0001819	synonymous_variant	0			-	HGNC	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.894C>A	10.37:g.93717044C>A		Somatic	0	26	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B4E0W6|O43578	Silent	SNP							pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S298	ENST00000265990.6	37	c.894	CCDS7419.1	10																																																																																			-	superfamily_ARM-type_fold		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	protein_coding	OTTHUMT00000049380.4	C	NM_003972	-		93717044	1	no_errors	ENST00000265990	ensembl	human	known	74_37	silent	SNP	0.990	A	A	93717044	C	A	93717044	2	1	100	1	0	0	0	0	0	0	0	1	1538	668	24	3		3	BTAF1	10	93717044	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	68903448	93717044	41817703	34	5820											
EBF3	253738	genome.wustl.edu	37	chr10	131760436	131760436	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcataaactttctcaccTgtttggtcattgaatctatg	8	8	3	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr10:131760436T>C	ENST00000355311.5	-	4	482	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	EBF3_ENST00000368648.3_Splice_Site_p.Q137R			Q9H4W6	COE3_HUMAN	early B-cell factor 3	137					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTTTCTCACCTGTTTGGTCAT	0.463																																																	0								ENSG00000108001						108	102	104					10																	131760436		2203	4300	6503	EBF3	SO:0001630	splice_region_variant	0			-	HGNC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.411+1A>G	10.37:g.131760436T>C		Somatic	0	41	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP							pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.Q137R	ENST00000355311.5	37	c.410		10	.	.	.	.	.	.	.	.	.	.	T	27.4	4.829260	0.90955	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.67	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.87758	2.905	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	T	0.78018	-0.2368	10	0.87932	D	0	-13.4618	16.2316	0.82347	0.0:0.0:0.0:1.0	.	137	Q9H4W6-2	.	R	137	ENSP00000347463:Q137R;ENSP00000357637:Q137R	ENSP00000347463:Q137R	Q	-	2	0	EBF3	131650426	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.988000	0.88194	2.308000	0.77769	0.533000	0.62120	CAG	-	NULL		0.463	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	protein_coding	OTTHUMT00000051015.2	T	NM_001005463	-	Missense_Mutation	131760436	-1	no_errors	ENST00000355311	ensembl	human	known	74_37	missense	SNP	1.000	C	C	131760436	T	C	131760436	5	2	100	1	0	0	0	0	0	0	1	0	4884	1594	55	5	1297	5	EBF3	10	131760436	Splice_Site	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	38043392	131760436	3774311	35	5821											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651597	1651597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtcatcctgctgccagtCcagctgctgtaagccttact	10	13	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:1651597C>T	ENST00000399676.2	+	1	565	c.527C>T	c.(526-528)tCc>tTc	p.S176F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	176	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.Y192_P201delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTGCCAGTCCAGCTGCTGT	0.617																																																	1	Deletion - In frame(1)	ovary(1)						ENSG00000185940						79	94	89					11																	1651597		2201	4298	6499	KRTAP5-5	SO:0001583	missense	0			-	HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.527C>T	11.37:g.1651597C>T	ENSP00000382584:p.Ser176Phe	Somatic	0	116	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	95	18.80	A8MWN2	Missense_Mutation	SNP							NULL	p.S176F	ENST00000399676.2	37	c.527	CCDS41592.1	11	.	.	.	.	.	.	.	.	.	.	c	2.923	-0.222699	0.06061	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01538	4.79	3.78	2.86	0.33363	.	.	.	.	.	T	0.05364	0.0142	M	0.90759	3.145	0.09310	N	1	B	0.18166	0.026	B	0.19391	0.025	T	0.10154	-1.0642	9	0.59425	D	0.04	.	11.064	0.47964	0.0:0.8095:0.1904:0.0	.	176	Q701N2	KRA55_HUMAN	F	176;147	ENSP00000382584:S176F	ENSP00000382584:S176F	S	+	2	0	KRTAP5-5	1608173	0.001000	0.12720	0.434000	0.26772	0.031000	0.12232	0.209000	0.17435	0.583000	0.29574	-0.243000	0.11985	TCC	-	NULL		0.617	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	C		-		1651597	1	no_errors	ENST00000399676	ensembl	human	known	74_37	missense	SNP	0.192	T	T	1651597	C	T	1651597	3	4	100	1	0	0	0	0	1	0	0	0	8566	855	30	2	529	2	KRTAP5-5	11	1651597	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09		1651597	133354919	36	5822			1	61		2	2	31	C		7.171041e-05
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651627	1651627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagccttactgctgccagtCcagctgctgtaagccctact	8	14	0	0	rs576867883|rs71025765		TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:1651627C>T	ENST00000399676.2	+	1	595	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	186	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.Y182_P191delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTGCCAGTCCAGCTGCTGT	0.602																																																	1	Deletion - In frame(1)	urinary_tract(1)						ENSG00000185940						67	72	70					11																	1651627		2200	4292	6492	KRTAP5-5	SO:0001583	missense	0			-	HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.557C>T	11.37:g.1651627C>T	ENSP00000382584:p.Ser186Phe	Somatic	0	101	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	102	8.93	A8MWN2	Missense_Mutation	SNP							NULL	p.S186F	ENST00000399676.2	37	c.557	CCDS41592.1	11	.	.	.	.	.	.	.	.	.	.	c	6.961	0.547285	0.13312	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01505	4.82	3.51	3.51	0.40186	.	.	.	.	.	T	0.06371	0.0164	M	0.93763	3.455	0.26180	N	0.979737	B	0.25850	0.136	B	0.24394	0.053	T	0.03443	-1.1036	9	0.72032	D	0.01	.	12.5263	0.56087	0.0:1.0:0.0:0.0	.	186	Q701N2	KRA55_HUMAN	F	186;157	ENSP00000382584:S186F	ENSP00000382584:S186F	S	+	2	0	KRTAP5-5	1608203	0.609000	0.26975	0.995000	0.50966	0.160000	0.22226	0.369000	0.20416	1.491000	0.48482	0.471000	0.43371	TCC	-	NULL		0.602	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	C		-		1651627	1	no_errors	ENST00000399676	ensembl	human	known	74_37	missense	SNP	0.931	T	T	1651627	C	T	1651627	3	4	100	1	0	0	0	0	1	0	0	0	8566	855	30	2	559	2	KRTAP5-5	11	1651627	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	30	1651627	133354889	37	5823			1	61		2	2	31	C		7.171041e-05
INTS5	80789	genome.wustl.edu	37	chr11	62415487	62415487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcaaccagcagctgcaGgacagccttgagcccagctg	10	15	1	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:62415487G>A	ENST00000330574.2	-	2	2117	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	689					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGCAGCTGCAGGACAGCCTTG	0.567																																																	0								ENSG00000185085						73	75	74					11																	62415487		2202	4299	6501	INTS5	SO:0001819	synonymous_variant	0			-	HGNC	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2065C>T	11.37:g.62415487G>A		Somatic	0	40	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	Q8N6W5|Q9C0G5	Silent	SNP							NULL	p.L689	ENST00000330574.2	37	c.2065	CCDS8027.1	11																																																																																			-	NULL		0.567	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	protein_coding	OTTHUMT00000395327.1	G	NM_030628	-		62415487	-1	no_errors	ENST00000330574	ensembl	human	known	74_37	silent	SNP	0.999	A	A	62415487	G	A	62415487	2	1	100	1	0	0	0	0	0	0	0	1	7783	991	35	2		2	INTS5	11	62415487	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	60763860	62415487	72591029	38	5824											
PYGM	5837	genome.wustl.edu	37	chr11	64518806	64518806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcacccacctttctcggCcagtgagactcggtagttct	10	14	2	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:64518806C>T	ENST00000164139.3	-	16	2358	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	PYGM_ENST00000377432.3_Missense_Mutation_p.A566T|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	654					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTTCTCGGCCAGTGAGACT	0.567																																																	0								ENSG00000068976						76	72	73					11																	64518806		2201	4297	6498	PYGM	SO:0001583	missense	0			-	HGNC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1960G>A	11.37:g.64518806C>T	ENSP00000164139:p.Ala654Thr	Somatic	0	23	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	A0AVK1|A6NDY6	Missense_Mutation	SNP							pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A654T	ENST00000164139.3	37	c.1960	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.462864	0.96257	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96334	-3.82;-3.98	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000019	D	0.98532	0.9510	M	0.93507	3.425	0.80722	D	1	P;D	0.71674	0.87;0.998	P;D	0.74023	0.885;0.982	D	0.99364	1.0918	10	0.87932	D	0	-15.6311	16.1723	0.81825	0.0:1.0:0.0:0.0	.	566;654	A6NDY6;P11217	.;PYGM_HUMAN	T	566;654;635	ENSP00000366650:A566T;ENSP00000164139:A654T	ENSP00000164139:A654T	A	-	1	0	PYGM	64275382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.545000	0.82128	2.692000	0.91855	0.561000	0.74099	GCC	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.567	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	C	NM_005609	-		64518806	-1	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64518806	C	T	64518806	3	4	100	1	0	0	0	0	1	0	0	0	12870	739	26	2	588	2	PYGM	11	64518806	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	2103319	64518806	70487710	39	5825											
SF1	7536	genome.wustl.edu	37	chr11	64535176	64535176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatgcccacctgtcagGctgggtaatgggtgtgggaa	14	11	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:64535176G>T	ENST00000377390.3	-	10	1546	c.1209C>A	c.(1207-1209)agC>agA	p.S403R	SF1_ENST00000433274.2_Missense_Mutation_p.S377R|SF1_ENST00000377394.3_Missense_Mutation_p.S403R|SF1_ENST00000334944.5_Missense_Mutation_p.S403R|SF1_ENST00000227503.9_Missense_Mutation_p.S403R|SF1_ENST00000377387.1_Missense_Mutation_p.S528R|SF1_ENST00000422298.2_Missense_Mutation_p.S288R|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	403	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CACCTGTCAGGCTGGGTAATG	0.652											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000168066						49	53	52					11																	64535176		2201	4297	6498	SF1	SO:0001583	missense	0			-	HGNC	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1209C>A	11.37:g.64535176G>T	ENSP00000366607:p.Ser403Arg	Somatic	0	36	0	1077	0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.S403R	ENST00000377390.3	37	c.1209	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122649	0.56613	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000443908;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T;T	0.52983	0.93;0.96;0.94;0.92;0.93;0.95;0.64;0.95;0.8	5.82	5.82	0.92795	.	0.225843	0.53938	D	0.000060	T	0.43634	0.1256	L	0.34521	1.04	0.45580	D	0.998523	B;P;P;B;P;P	0.42518	0.198;0.557;0.557;0.421;0.557;0.782	B;B;B;B;B;P	0.48677	0.055;0.349;0.282;0.146;0.282;0.586	T	0.13953	-1.0490	10	0.17832	T	0.49	.	10.9399	0.47268	0.0843:0.0:0.9157:0.0	.	288;403;403;403;403;528	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	R	528;403;403;403;403;288;47;377;124	ENSP00000366604:S528R;ENSP00000366607:S403R;ENSP00000227503:S403R;ENSP00000366611:S403R;ENSP00000334414:S403R;ENSP00000413084:S288R;ENSP00000391198:S47R;ENSP00000396793:S377R;ENSP00000419062:S124R	ENSP00000227503:S403R	S	-	3	2	SF1	64291752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.808000	0.47963	2.759000	0.94783	0.555000	0.69702	AGC	-	NULL		0.652	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	protein_coding	OTTHUMT00000143242.1	G	NM_004630	-		64535176	-1	no_errors	ENST00000377390	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64535176	G	T	64535176	3	4	100	1	0	0	0	0	1	0	0	0	14153	1194	42	3	864	3	SF1	11	64535176	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	16370	64535176	70471340	40	5826											
SHANK2	22941	genome.wustl.edu	37	chr11	70332776	70332776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgggatcaagcagccGccctgtgagtgggtggacat	17	9	1	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:70332776G>A	ENST00000423696.2	-	15	2521	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	SHANK2_ENST00000338508.4_Missense_Mutation_p.R1209W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R613W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R612W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	829					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAAGCAGCCGCCCTGTGAGT	0.682																																																	0								ENSG00000162105						31	38	36					11																	70332776		2200	4294	6494	SHANK2	SO:0001583	missense	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2485C>T	11.37:g.70332776G>A	ENSP00000394536:p.Arg829Trp	Somatic	0	84	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R1209W	ENST00000423696.2	37	c.3625		11	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992611	0.35131	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	4.88	-5.51	0.02568	.	0.096878	0.64402	D	0.000002	T	0.56543	0.1992	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.64776	0.852;0.929;0.929	T	0.62784	-0.6781	10	0.87932	D	0	.	19.8969	0.96969	0.0:0.0:0.1141:0.8859	.	829;1208;613	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	W	613;612;487;1209;829;847;832	ENSP00000399423:R613W;ENSP00000386491:R612W;ENSP00000402944:R487W;ENSP00000345193:R1209W;ENSP00000394536:R829W;ENSP00000294018:R832W	ENSP00000294018:R832W	R	-	1	2	SHANK2	70010424	0.986000	0.35501	0.113000	0.21522	0.342000	0.28953	1.676000	0.37565	-1.124000	0.02936	-0.397000	0.06425	CGG	-	NULL		0.682	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		G	NM_012309	-		70332776	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	SNP	0.907	A	A	70332776	G	A	70332776	3	1	100	1	0	0	0	0	1	0	0	0	14273	1086	38	1	1935	1	SHANK2	11	70332776	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	5797600	70332776	64673740	41	5827											
KDELC2	143888	genome.wustl.edu	37	chr11	108352023	108352023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggattttctttggacaGctgtaccaactggagcctct	10	10	2	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr11:108352023G>T	ENST00000323468.5	-	5	1047	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Missense_Mutation_p.L272M|KDELC2_ENST00000375648.1_Missense_Mutation_p.L272M	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	328						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCTTTGGACAGCTGTACCAAC	0.433																																																	0								ENSG00000178202						117	116	116					11																	108352023		1818	4086	5904	KDELC2	SO:0001583	missense	0			-	HGNC	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.982C>A	11.37:g.108352023G>T	ENSP00000315386:p.Leu328Met	Somatic	0	52	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP							pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.L328M	ENST00000323468.5	37	c.982	CCDS41711.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.387|5.387	0.256668|0.256668	0.10185|0.10185	.|.	.|.	ENSG00000178202|ENSG00000178202	ENST00000530318|ENST00000323468;ENST00000434945;ENST00000375648	.|T;T;T	.|0.25912	.|1.77;1.77;1.77	5.17|5.17	0.76|0.76	0.18442|0.18442	.|.	.|0.344068	.|0.28307	.|N	.|0.015826	T|T	0.21103|0.21103	0.0508|0.0508	L|L	0.33189|0.33189	0.99|0.99	0.28506|0.28506	N|N	0.913768|0.913768	.|P;B	.|0.50272	.|0.933;0.337	.|P;B	.|0.50162	.|0.633;0.271	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.41790	.|T	.|0.15	-31.7423|-31.7423	4.3242|4.3242	0.11032|0.11032	0.2028:0.0:0.3785:0.4187|0.2028:0.0:0.3785:0.4187	.|.	.|328;272	.|Q7Z4H8;Q7Z4H8-2	.|KDEL2_HUMAN;.	D|M	45|328;272;272	.|ENSP00000315386:L328M;ENSP00000413429:L272M;ENSP00000364799:L272M	.|ENSP00000315386:L328M	A|L	-|-	2|1	0|2	KDELC2|KDELC2	107857233|107857233	0.002000|0.002000	0.14202|0.14202	0.998000|0.998000	0.56505|0.56505	0.476000|0.476000	0.33039|0.33039	-0.100000|-0.100000	0.10990|0.10990	0.298000|0.298000	0.22638|0.22638	-0.282000|-0.282000	0.10007|0.10007	GCT|CTG	-	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.433	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC2	protein_coding	OTTHUMT00000390273.1	G	NM_153705	-		108352023	-1	no_errors	ENST00000323468	ensembl	human	known	74_37	missense	SNP	0.110	T	T	108352023	G	T	108352023	3	4	100	1	0	0	0	0	1	0	0	0	8120	962	34	3	557	3	KDELC2	11	108352023	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	38019247	108352023	26654493	42	5828											
OS9	10956	genome.wustl.edu	37	chr12	58112966	58112966	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccatcaccccaacctacagGtgagagcagtcagacaagaa	8	14	2	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr12:58112966G>T	ENST00000315970.7	+	12	1641		c.e12+1		OS9_ENST00000439210.2_Splice_Site|OS9_ENST00000435406.2_Splice_Site|OS9_ENST00000257966.8_Splice_Site|OS9_ENST00000389146.6_Splice_Site|OS9_ENST00000413095.2_Splice_Site|OS9_ENST00000551035.1_Splice_Site|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Splice_Site|OS9_ENST00000389142.5_Splice_Site	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAACCTACAGGTGAGAGCAGT	0.512																																																	0								ENSG00000135506						72	70	71					12																	58112966		2203	4300	6503	OS9	SO:0001630	splice_region_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1600+1G>T	12.37:g.58112966G>T		Somatic	0	41	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Splice_Site	SNP							-	e12+1	ENST00000315970.7	37	c.1600+1	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640615	0.67244	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6968	0.62585	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OS9	56399233	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.124000	0.57924	2.619000	0.88677	0.455000	0.32223	.	-	-		0.512	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-	Intron	58112966	1	no_errors	ENST00000315970	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	58112966	G	T	58112966	5	4	100	1	0	0	0	0	0	0	1	0	11274	1275	44	3	1647	3	OS9	12	58112966	Splice_Site	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		58112966	75738929	43	5829											
TMTC3	160418	genome.wustl.edu	37	chr12	88589095	88589095	+	Frame_Shift_Del	DEL	A	A	-													ggcattagcaccacatgaagAatatattcagcgccatttga					rs533472310		TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr12:88589095delA	ENST00000266712.6	+	14	2634	c.2414delA	c.(2413-2415)gaafs	p.E805fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	806					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCACATGAAGAATATATTCAG	0.348																																																	0								ENSG00000139324						75	79	77					12																	88589095		2203	4298	6501	TMTC3	SO:0001589	frameshift_variant	0				HGNC		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2414delA	12.37:g.88589095delA	ENSP00000266712:p.Glu805fs	Somatic	0	33	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL							pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E805fs	ENST00000266712.6	37	c.2414	CCDS9032.1	12																																																																																			-	NULL		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	protein_coding	OTTHUMT00000406421.1	A	NM_181783			88589095	1	no_errors	ENST00000266712	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88589095	A	-	88589095	7	5	100	1	0	1	0	1	0	0	0	0	16269	246	9	0	2464	0	TMTC3	12	88589095	Frame_Shift_Del	DEL	A	TCGA-DX-A8BN-01A-11D-A37C-09	30476129	88589095	45262800	44	5830											
SYCP3	50511	genome.wustl.edu	37	chr12	102131694	102131694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagatttcctggaatacTtttttccggaggacaccata	7	11	0	1	rs376033096		TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr12:102131694T>C	ENST00000392927.3	-	2	151	c.20A>G	c.(19-21)aAg>aGg	p.K7R	SYCP3_ENST00000392924.1_Missense_Mutation_p.K7R|SYCP3_ENST00000266743.2_Missense_Mutation_p.K7R	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	7					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTGGAATACTTTTTTCCGGA	0.373																																																	0								ENSG00000139351						156	155	155					12																	102131694		2203	4300	6503	SYCP3	SO:0001583	missense	0			-	HGNC	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.20A>G	12.37:g.102131694T>C	ENSP00000376658:p.Lys7Arg	Somatic	0	51	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.00		Missense_Mutation	SNP							pfam_Cor1/Xlr/Xmr	p.K7R	ENST00000392927.3	37	c.20	CCDS9087.1	12	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995833	0.54147	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.23	4.08	0.47627	.	0.059509	0.64402	D	0.000006	T	0.75102	0.3804	M	0.77103	2.36	0.41845	D	0.990148	D	0.76494	0.999	D	0.66084	0.941	T	0.73892	-0.3839	9	0.34782	T	0.22	-20.3707	10.8731	0.46896	0.0:0.0745:0.0:0.9255	.	7	Q8IZU3	SYCP3_HUMAN	R	7	.	ENSP00000266743:K7R	K	-	2	0	SYCP3	100655825	0.999000	0.42202	0.006000	0.13384	0.114000	0.19823	3.729000	0.54999	0.832000	0.34804	0.533000	0.62120	AAG	-	NULL		0.373	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	protein_coding	OTTHUMT00000316478.2	T	NM_153694	-		102131694	-1	no_errors	ENST00000266743	ensembl	human	known	74_37	missense	SNP	0.921	C	C	102131694	T	C	102131694	3	2	100	1	0	0	0	0	1	0	0	0	15441	1609	56	5	722	5	SYCP3	12	102131694	Missense_Mutation	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	13542599	102131694	31720201	45	5831											
P2RX2	22953	genome.wustl.edu	37	chr12	133197922	133197922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcattgacgtcattgtGcatggacaggtgcctgcacc	11	12	1	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr12:133197922G>A	ENST00000389110.3	+	9	1024	c.987G>A	c.(985-987)gtG>gtA	p.V329V	P2RX2_ENST00000351222.4_Silent_p.V237V|P2RX2_ENST00000449132.2_Silent_p.V295V|P2RX2_ENST00000348800.5_Silent_p.V329V|P2RX2_ENST00000350048.5_Silent_p.V305V|P2RX2_ENST00000343948.4_Silent_p.V329V|P2RX2_ENST00000352418.4_Silent_p.V257V	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	329	Pore-forming motif. {ECO:0000255}.				behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		ACGTCATTGTGCATGGACAGG	0.607																																																	0								ENSG00000187848						121	111	114					12																	133197922		2203	4300	6503	P2RX2	SO:0001819	synonymous_variant	0			-	HGNC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.987G>A	12.37:g.133197922G>A		Somatic	0	30	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP							pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.V329	ENST00000389110.3	37	c.987	CCDS31931.1	12																																																																																			-	pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor		0.607	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	protein_coding	OTTHUMT00000397542.1	G		-		133197922	1	no_errors	ENST00000343948	ensembl	human	known	74_37	silent	SNP	1.000	A	A	133197922	G	A	133197922	2	1	100	1	0	0	0	0	0	0	0	1	11342	1306	46	2		2	P2RX2	12	133197922	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	31066228	133197922	653973	46	5832											
CHD8	57680	genome.wustl.edu	37	chr14	21899129	21899129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccagggaccttggcgGccaacactgtattaccagag	12	12	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr14:21899129G>A	ENST00000557364.1	-	2	937	c.674C>T	c.(673-675)gCc>gTc	p.A225V	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.A225V|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	225					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCTTGGCGGCCAACACTGT	0.557																																																	0								ENSG00000100888						43	40	41					14																	21899129		1568	3582	5150	CHD8	SO:0001583	missense	0			-	HGNC	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.674C>T	14.37:g.21899129G>A	ENSP00000451601:p.Ala225Val	Somatic	0	50	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A225V	ENST00000557364.1	37	c.674	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061408	0.76187	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.89485	-2.52;-2.52	5.87	5.87	0.94306	.	0.423876	0.13567	U	0.378309	D	0.86260	0.5890	N	0.14661	0.345	0.37087	D	0.899267	.	.	.	.	.	.	D	0.86313	0.1687	8	0.41790	T	0.15	-6.0876	17.1211	0.86701	0.0:0.0:1.0:0.0	.	.	.	.	V	225	ENSP00000382863:A225V;ENSP00000451601:A225V	ENSP00000382863:A225V	A	-	2	0	CHD8	20968969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.497000	0.66924	2.779000	0.95612	0.591000	0.81541	GCC	-	NULL		0.557	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	protein_coding	OTTHUMT00000410436.1	G	NM_020920	-		21899129	-1	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21899129	G	A	21899129	3	1	100	1	0	0	0	0	1	0	0	0	3333	1203	42	2	7219	2	CHD8	14	21899129	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		21899129	85450411	47	5833											
HECTD1	25831	genome.wustl.edu	37	chr14	31642438	31642438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagctgccgatgtgagcgCtccccagaactatctaatct	8	12	2	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr14:31642438C>T	ENST00000399332.1	-	6	1568	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	HECTD1_ENST00000553700.1_Silent_p.E360E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	360					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GATGTGAGCGCTCCCCAGAAC	0.408																																																	0								ENSG00000092148						117	110	113					14																	31642438		1879	4126	6005	HECTD1	SO:0001819	synonymous_variant	0			-	HGNC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1080G>A	14.37:g.31642438C>T		Somatic	0	44	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP							pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.E360	ENST00000399332.1	37	c.1080	CCDS41939.1	14																																																																																			-	superfamily_ARM-type_fold		0.408	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	protein_coding	OTTHUMT00000409942.1	C		-		31642438	-1	no_errors	ENST00000399332	ensembl	human	known	74_37	silent	SNP	0.977	T	T	31642438	C	T	31642438	2	4	100	1	0	0	0	0	0	0	0	1	7041	796	28	2		2	HECTD1	14	31642438	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	9743309	31642438	75707102	48	5834											
TXNDC16	57544	genome.wustl.edu	37	chr14	52957587	52957587	+	Frame_Shift_Del	DEL	A	A	-													gtagaactcctgcttttcccAgaagacgccaagcaacccat							TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr14:52957587delA	ENST00000281741.4	-	10	1264	c.893delT	c.(892-894)ctgfs	p.L298fs	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	298					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGCTTTTCCCAGAAGACGCCA	0.383																																																	0								ENSG00000087301						110	111	111					14																	52957587		2203	4300	6503	TXNDC16	SO:0001589	frameshift_variant	0				HGNC	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.893delT	14.37:g.52957587delA	ENSP00000281741:p.Leu298fs	Somatic	0	49	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Frame_Shift_Del	DEL							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L298fs	ENST00000281741.4	37	c.893	CCDS32083.1	14																																																																																			-	NULL		0.383	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	protein_coding	OTTHUMT00000411681.1	A	XM_051699			52957587	-1	no_errors	ENST00000281741	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52957587	A	-	52957587	7	5	100	1	0	1	0	1	0	0	0	0	16802	188	7	0	1632	0	TXNDC16	14	52957587	Frame_Shift_Del	DEL	A	TCGA-DX-A8BN-01A-11D-A37C-09	21315149	52957587	54391953	49	5835											
RAGE	5891	genome.wustl.edu	37	chr14	102698898	102698898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggaagtaggggtgctgCagggcctggtgggcggcgat	20	7	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr14:102698898C>T	ENST00000361847.2	-	9	1071	c.840G>A	c.(838-840)ctG>ctA	p.L280L	MOK_ENST00000523231.1_Missense_Mutation_p.C13Y|MOK_ENST00000522867.1_Missense_Mutation_p.C13Y|MOK_ENST00000524370.1_Missense_Mutation_p.C13Y|MOK_ENST00000524214.1_Silent_p.L250L|MOK_ENST00000193029.6_Silent_p.L46L|MOK_ENST00000522874.1_Silent_p.L279L|MOK_ENST00000517966.1_Missense_Mutation_p.C13Y|MOK_ENST00000519058.1_Missense_Mutation_p.C13Y|MOK_ENST00000522534.1_Missense_Mutation_p.C13Y|MOK_ENST00000561150.1_Missense_Mutation_p.C13Y|MOK_ENST00000520266.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	280	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)										AGGGGTGCTGCAGGGCCTGGT	0.582																																																	0								ENSG00000080823						128	132	131					14																	102698898		2203	4300	6503	MOK	SO:0001819	synonymous_variant	0			-	HGNC	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.840G>A	14.37:g.102698898C>T		Somatic	0	72	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP							NULL	p.C13Y	ENST00000361847.2	37	c.38	CCDS9971.1	14	.	.	.	.	.	.	.	.	.	.	.	11.04	1.523005	0.27211	.	.	ENSG00000080823	ENST00000519058	.	.	.	5.5	2.52	0.30459	.	.	.	.	.	T	0.55970	0.1954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	5	0.87932	D	0	-0.0775	1.8449	0.03157	0.2529:0.4403:0.1173:0.1895	.	.	.	.	Y	13	.	ENSP00000429672:C13Y	C	-	2	0	RAGE	101768651	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	0.598000	0.24074	0.220000	0.20860	0.462000	0.41574	TGC	-	NULL		0.582	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	protein_coding	OTTHUMT00000380848.3	C		-		102698898	-1	no_errors	ENST00000559138	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102698898	C	T	102698898	2	4	100	1	0	0	0	0	0	0	0	1	13014	697	25	2		2	RAGE	14	102698898	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	49741311	102698898	4650642	50	5836											
MYO1E	4643	genome.wustl.edu	37	chr15	59470648	59470648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctggaactggtcgctgtCcatgttgaccgactgcagca	12	12	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr15:59470648C>A	ENST00000288235.4	-	19	2392	c.1993G>T	c.(1993-1995)Gac>Tac	p.D665Y		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	665	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGGTCGCTGTCCATGTTGACC	0.597																																																	0								ENSG00000157483						110	88	95					15																	59470648		2191	4291	6482	MYO1E	SO:0001583	missense	0			-	HGNC	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1993G>T	15.37:g.59470648C>A	ENSP00000288235:p.Asp665Tyr	Somatic	0	53	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	44	29.03	Q14778	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.D665Y	ENST00000288235.4	37	c.1993	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795063	0.90453	.	.	ENSG00000157483	ENST00000288235	D	0.90444	-2.67	4.92	4.92	0.64577	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	H	0.97659	4.05	0.80722	D	1	D	0.61080	0.989	D	0.64595	0.927	D	0.98335	1.0535	10	0.72032	D	0.01	.	18.3153	0.90218	0.0:1.0:0.0:0.0	.	665	Q12965	MYO1E_HUMAN	Y	665	ENSP00000288235:D665Y	ENSP00000288235:D665Y	D	-	1	0	MYO1E	57257940	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.651000	0.83577	2.563000	0.86464	0.655000	0.94253	GAC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.597	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	protein_coding	OTTHUMT00000416024.1	C	NM_004998	-		59470648	-1	no_errors	ENST00000288235	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59470648	C	A	59470648	3	1	100	1	0	0	0	0	1	0	0	0	10074	855	30	3	1373	3	MYO1E	15	59470648	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09		59470648	43060744	51	5837											
IGDCC3	9543	genome.wustl.edu	37	chr15	65628224	65628224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggaagcccatggatttgGcactggaagcgggccacacc	14	11	0	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr15:65628224G>A	ENST00000327987.4	-	3	731	c.480C>T	c.(478-480)tgC>tgT	p.C160C	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	160	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATGGATTTGGCACTGGAAGC	0.577																																																	0								ENSG00000174498						137	121	127					15																	65628224		2201	4299	6500	IGDCC3	SO:0001819	synonymous_variant	0			-	HGNC	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.480C>T	15.37:g.65628224G>A		Somatic	0	33	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	O95215	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C160	ENST00000327987.4	37	c.480	CCDS10205.1	15																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.577	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	protein_coding	OTTHUMT00000256826.1	G	NM_004884	-		65628224	-1	no_errors	ENST00000327987	ensembl	human	known	74_37	silent	SNP	1.000	A	A	65628224	G	A	65628224	2	1	100	1	0	0	0	0	0	0	0	1	7570	1195	42	2		2	IGDCC3	15	65628224	Silent	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	6157576	65628224	36903168	52	5838											
ANKS4B	257629	genome.wustl.edu	37	chr16	21261992	21261992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttcaagagagagcagAttgatctagaagctctgctg	10	8	4	5			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr16:21261992A>G	ENST00000311620.5	+	2	1178	c.1105A>G	c.(1105-1107)Att>Gtt	p.I369V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	369	SAM.				response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GAGAGAGCAGATTGATCTAGA	0.507																																																	0								ENSG00000175311						88	92	91					16																	21261992		1999	4179	6178	ANKS4B	SO:0001583	missense	0			-	HGNC	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.1105A>G	16.37:g.21261992A>G	ENSP00000308772:p.Ile369Val	Somatic	0	26	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05		Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I369V	ENST00000311620.5	37	c.1105	CCDS42130.1	16	.	.	.	.	.	.	.	.	.	.	A	8.078	0.771842	0.16051	.	.	ENSG00000175311	ENST00000311620	T	0.54479	0.57	5.81	5.81	0.92471	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.124395	0.56097	D	0.000036	T	0.48840	0.1522	L	0.41027	1.25	0.80722	D	1	B	0.26577	0.153	B	0.30943	0.122	T	0.49390	-0.8945	10	0.72032	D	0.01	-16.0392	15.3293	0.74193	1.0:0.0:0.0:0.0	.	369	Q8N8V4	ANS4B_HUMAN	V	369	ENSP00000308772:I369V	ENSP00000308772:I369V	I	+	1	0	ANKS4B	21169493	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	2.809000	0.47971	2.224000	0.72417	0.528000	0.53228	ATT	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.507	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS4B	protein_coding	OTTHUMT00000436535.1	A	NM_145865	-		21261992	1	no_errors	ENST00000311620	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21261992	A	G	21261992	3	3	100	1	0	0	0	0	1	0	0	0	691	333	12	5	1111	5	ANKS4B	16	21261992	Missense_Mutation	SNP	A	TCGA-DX-A8BN-01A-11D-A37C-09		21261992	69092761	53	5839											
TBC1D10B	26000	genome.wustl.edu	37	chr16	30381257	30381268	+	In_Frame_Del	DEL	GCCGGGGCTGGG	GCCGGGGCTGGG	-													ccaccgtgctgcccgtgacaGccggggctggggccggggct					rs570394259	byFrequency	TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	GCCGGGGCTGGG	GCCGGGGCTGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr16:30381257_30381268delGCCGGGGCTGGG	ENST00000409939.3	-	1	317_328	c.237_248delCCCAGCCCCGGC	c.(235-249)gccccagccccggct>gct	p.79_83APAPA>A		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	79	Pro-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCCCGTGACAgccggggctggggccggggctg	0.792														46	0.0091853	0.0098	0.0086	5008	,	,		8323	0.001		0.0239	False		,,,				2504	0.002																0								ENSG00000169221			3,471		1,1,235						-6.7	0			1	39,1033		17,5,514	no	coding	TBC1D10B	NM_015527.3		18,6,749	A1A1,A1R,RR		3.6381,0.6329,2.7167				42,1504				TBC1D10B	SO:0001651	inframe_deletion	0				HGNC	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.237_248delCCCAGCCCCGGC	16.37:g.30381257_30381268delGCCGGGGCTGGG	ENSP00000386538:p.Ala79_Pro82del	Somatic					0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	In_Frame_Del	DEL							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.PAPA80in_frame_del	ENST00000409939.3	37	c.248_237	CCDS10676.2	16																																																																																			-	NULL		0.792	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	protein_coding	OTTHUMT00000255527.3	GCCGGGGCTGGG	NM_015527			30381268	-1	no_errors	ENST00000409939	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001	-	-	30381268	GCCGGGGCTGGG	-	30381257	7	5	100	1	0	1	0	1	0	0	0	0	15606	971	34	0	2214	0	TBC1D10B	16	30381257	In_Frame_Del	DEL	GCCGGGGCTGGG	TCGA-DX-A8BN-01A-11D-A37C-09	9119265	30381257	59973496	54	5840											
HSF4	3299	genome.wustl.edu	37	chr16	67202771	67202771	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcggggacaggagcccaGagagtctgctgcctccgatg	15	11	1	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr16:67202771G>T	ENST00000521374.1	+	10	1120	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	HSF4_ENST00000264009.8_Nonsense_Mutation_p.E374*|HSF4_ENST00000584272.1_Nonsense_Mutation_p.E344*|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000421453.1_Nonsense_Mutation_p.E344*|NOL3_ENST00000564053.1_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	374	Hydrophobic repeat HR-C.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGAGCCCAGAGAGTCTGCT	0.597																																																	0								ENSG00000102878						61	69	66					16																	67202771		1973	4149	6122	HSF4	SO:0001587	stop_gained	0			-	HGNC	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1120G>T	16.37:g.67202771G>T	ENSP00000430947:p.Glu374*	Somatic	0	48	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q99472|Q9ULV6	Nonsense_Mutation	SNP							pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.E374*	ENST00000521374.1	37	c.1120	CCDS42175.1	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	40|40|40	8.491823|8.491823|8.491823	0.98834|0.98834|0.98834	.|.|.	.|.|.	ENSG00000102878|ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374|ENST00000520304|ENST00000517750;ENST00000519601	.|.|.	.|.|.	.|.|.	4.17|4.17|4.17	3.22|3.22|3.22	0.36961|0.36961|0.36961	.|.|.	0.582849|.|.	0.16624|.|.	N|.|.	0.206341|.|.	.|T|T	.|0.52041|0.52041	.|0.1710|0.1710	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.61397|0.61397	.|-0.7071|-0.7071	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	-8.2143|-8.2143|-8.2143	10.2008|10.2008|10.2008	0.43082|0.43082|0.43082	0.0:0.2023:0.7977:0.0|0.0:0.2023:0.7977:0.0|0.0:0.2023:0.7977:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|H|I	344;374;298;374|49|158;105	.|.|.	ENSP00000264009:E374X|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	HSF4|HSF4|HSF4	65760272|65760272|65760272	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.090000|0.090000|0.090000	0.18270|0.18270|0.18270	3.173000|3.173000|3.173000	0.50839|0.50839|0.50839	1.106000|1.106000|1.106000	0.41623|0.41623|0.41623	-0.225000|-0.225000|-0.225000	0.12378|0.12378|0.12378	GAG|CAG|AGA	-	NULL		0.597	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	protein_coding	OTTHUMT00000375080.1	G	NM_001538	-		67202771	1	no_errors	ENST00000264009	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	67202771	G	T	67202771	4	4	100	1	0	0	0	0	0	1	0	0	7400	943	33	3	1172	3	HSF4	16	67202771	Nonsense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	36821514	67202771	23151982	55	5841											
MTHFSD	64779	genome.wustl.edu	37	chr16	86575760	86575760	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgctgacggcgcccaTggataccatcatggcatatt	9	13	1	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr16:86575760T>A	ENST00000360900.6	-	6	527	c.502A>T	c.(502-504)Atg>Ttg	p.M168L	MTHFSD_ENST00000546093.1_Missense_Mutation_p.M5L|MTHFSD_ENST00000322911.6_Missense_Mutation_p.M167L|MTHFSD_ENST00000543303.2_Missense_Mutation_p.M167L|MTHFSD_ENST00000381214.5_Missense_Mutation_p.M168L	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	168							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ACGGCGCCCATGGATACCATC	0.577																																																	0								ENSG00000103248						77	76	76					16																	86575760		1994	4175	6169	MTHFSD	SO:0001583	missense	0			-	HGNC	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.502A>T	16.37:g.86575760T>A	ENSP00000354152:p.Met168Leu	Somatic	0	15	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP							pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M168L	ENST00000360900.6	37	c.502	CCDS54047.1	16	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526910	0.27299	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	T;T;T;T	0.17528	2.67;2.67;2.67;2.27	5.6	4.44	0.53790	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.069984	0.85682	D	0.000000	T	0.11836	0.0288	N	0.20986	0.625	0.37426	D	0.913827	B;B;B;B;B	0.17465	0.002;0.022;0.007;0.002;0.002	B;B;B;B;B	0.21708	0.022;0.036;0.009;0.011;0.007	T	0.14090	-1.0485	10	0.29301	T	0.29	-12.0177	10.8492	0.46761	0.1411:0.0:0.0:0.8589	.	168;167;5;168;167	E9PAM1;B7ZLC0;B3KUB0;Q2M296;Q2M296-2	.;.;.;MTHSD_HUMAN;.	L	166;168;168;167;5	ENSP00000370612:M168L;ENSP00000354152:M168L;ENSP00000326777:M167L;ENSP00000438761:M5L	ENSP00000326777:M167L	M	-	1	0	MTHFSD	85133261	1.000000	0.71417	0.981000	0.43875	0.341000	0.28922	5.484000	0.66844	2.111000	0.64477	0.533000	0.62120	ATG	-	pfam_FTHF_cligase		0.577	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTHFSD	protein_coding	OTTHUMT00000432182.1	T	NM_022764	-		86575760	-1	no_errors	ENST00000360900	ensembl	human	known	74_37	missense	SNP	0.994	A	A	86575760	T	A	86575760	3	1	100	1	0	0	0	0	1	0	0	0	9935	1464	51	5	661	5	MTHFSD	16	86575760	Missense_Mutation	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	19372989	86575760	3778993	56	5842											
SERPINF2	5345	genome.wustl.edu	37	chr17	1657814	1657814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggattacccccagtttGgcagccccaagtgaggggcc	14	12	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr17:1657814G>A	ENST00000324015.3	+	10	1539	c.1462G>A	c.(1462-1464)Ggc>Agc	p.G488S	SERPINF2_ENST00000382061.4_Missense_Mutation_p.G488S|SERPINF2_ENST00000450523.2_Missense_Mutation_p.G424S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	488					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CCCCCAGTTTGGCAGCCCCAA	0.602																																																	0								ENSG00000167711						42	48	46					17																	1657814		2203	4300	6503	SERPINF2	SO:0001583	missense	0			-	HGNC	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1462G>A	17.37:g.1657814G>A	ENSP00000321853:p.Gly488Ser	Somatic	0	18	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	2	84.62	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G488S	ENST00000324015.3	37	c.1462	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	G	0.960	-0.703642	0.03255	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000382061	D;D;D	0.83914	-1.75;-1.78;-1.75	5.5	-1.51	0.08664	.	0.894418	0.09736	N	0.762503	T	0.52629	0.1746	N	0.01705	-0.755	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.42916	-0.9423	9	.	.	.	.	2.5552	0.04758	0.3777:0.3601:0.1536:0.1087	.	424;488	B4E1B7;P08697	.;A2AP_HUMAN	S	488;424;488	ENSP00000321853:G488S;ENSP00000403877:G424S;ENSP00000371493:G488S	.	G	+	1	0	SERPINF2	1604564	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.152000	0.16302	-0.154000	0.11118	-1.240000	0.01540	GGC	-	NULL		0.602	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	protein_coding	OTTHUMT00000207078.3	G	NM_000934	-		1657814	1	no_errors	ENST00000324015	ensembl	human	known	74_37	missense	SNP	0.000	A	A	1657814	G	A	1657814	3	1	100	1	0	0	0	0	1	0	0	0	14123	1348	47	2	1506	2	SERPINF2	17	1657814	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		1657814	79537396	57	5843											
FXR2	9513	genome.wustl.edu	37	chr17	7496167	7496167	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaccgggggctctggttcaGacgtgtccaataggctgtag	14	10	2	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr17:7496167G>A	ENST00000250113.7	-	14	1908	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	525						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTCTGGTTCAGACGTGTCCAA	0.602																																																	0								ENSG00000129245						37	37	37					17																	7496167		1866	4118	5984	FXR2	SO:0001583	missense	0			-	HGNC	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1574C>T	17.37:g.7496167G>A	ENSP00000250113:p.Ser525Phe	Somatic	0	22	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	10	76.19	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP							pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.S525F	ENST00000250113.7	37	c.1574	CCDS45604.1	17	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803734	0.70682	.	.	ENSG00000129245	ENST00000250113	T	0.33438	1.41	5.57	5.57	0.84162	.	0.199418	0.44688	D	0.000437	T	0.36799	0.0980	N	0.19112	0.55	0.43364	D	0.995443	D	0.56746	0.977	P	0.56343	0.796	T	0.17137	-1.0379	10	0.72032	D	0.01	-0.0218	17.3985	0.87453	0.0:0.0:1.0:0.0	.	525	P51116	FXR2_HUMAN	F	525	ENSP00000250113:S525F	ENSP00000250113:S525F	S	-	2	0	FXR2	7436892	0.998000	0.40836	0.991000	0.47740	0.993000	0.82548	4.173000	0.58249	2.785000	0.95823	0.655000	0.94253	TCT	-	pfam_Frag_X_MRP_fam		0.602	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	protein_coding	OTTHUMT00000441084.1	G		-		7496167	-1	no_errors	ENST00000250113	ensembl	human	known	74_37	missense	SNP	0.997	A	A	7496167	G	A	7496167	3	1	100	1	0	0	0	0	1	0	0	0	6118	942	33	2	363	2	FXR2	17	7496167	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	5838353	7496167	73699043	58	5844											
CCDC43	124808	genome.wustl.edu	37	chr17	42761285	42761285	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgagtttctgaccatcGttccacaatctccttgcaga	6	12	3	3	rs369330972		TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr17:42761285G>A	ENST00000315286.8	-	2	255	c.247C>T	c.(247-249)Cga>Tga	p.R83*	CCDC43_ENST00000457422.2_Nonsense_Mutation_p.R83*|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Nonsense_Mutation_p.R83*	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	83										lung(2)	2		Prostate(33;0.0322)				TCTGACCATCGTTCCACAATC	0.413																																																	0								ENSG00000180329	G	stop/ARG,stop/ARG	0,3724		0,0,1862	119	113	115		247,247	4.9	1	17		115	1,8193		0,1,4096	no	stop-gained,stop-gained	CCDC43	NM_001099225.1,NM_144609.2	,	0,1,5958	AA,AG,GG		0.0122,0.0,0.0084	,	83/155,83/225	42761285	1,11917	1862	4097	5959	CCDC43	SO:0001587	stop_gained	0			-	HGNC	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.247C>T	17.37:g.42761285G>A	ENSP00000323782:p.Arg83*	Somatic	0	30	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	C9JVK9	Nonsense_Mutation	SNP							NULL	p.R83*	ENST00000315286.8	37	c.247	CCDS45704.1	17	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645266	0.87859	0.0	1.22E-4	ENSG00000180329	ENST00000315286;ENST00000457422	.	.	.	5.9	4.92	0.64577	.	0.226773	0.42172	D	0.000757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	0.0084	8.7035	0.34340	0.0764:0.0:0.6868:0.2368	.	.	.	.	X	83	.	ENSP00000323782:R83X	R	-	1	2	CCDC43	40116811	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.833000	0.55790	2.788000	0.95919	0.650000	0.86243	CGA	-	NULL		0.413	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	protein_coding	OTTHUMT00000457812.1	G	NM_144609	-		42761285	-1	no_errors	ENST00000315286	ensembl	human	known	74_37	nonsense	SNP	0.996	A	A	42761285	G	A	42761285	4	1	100	1	0	0	0	0	0	1	0	0	2817	1153	40	1	443	1	CCDC43	17	42761285	Nonsense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	35265118	42761285	38433925	59	5845											
NOTUM	147111	genome.wustl.edu	37	chr17	79918624	79918624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacggccgtgaagtcCagcgggaagctctccacggg	13	16	1	1	rs181598785	byFrequency	TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr17:79918624C>T	ENST00000409678.3	-	1	545	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	54						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCGTGAAGTCCAGCGGGAAGC	0.711																																																	0								ENSG00000185269						19	15	16					17																	79918624		2183	4291	6474	NOTUM	SO:0001819	synonymous_variant	0			-	HGNC	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.162G>A	17.37:g.79918624C>T		Somatic	0	38	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q8N410|Q8NI82	Silent	SNP							pfam_NOTUM	p.L54	ENST00000409678.3	37	c.162	CCDS32771.2	17																																																																																			-	NULL		0.711	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	protein_coding	OTTHUMT00000335123.2	C	NM_178493	-		79918624	-1	no_errors	ENST00000409678	ensembl	human	known	74_37	silent	SNP	1.000	T	T	79918624	C	T	79918624	2	4	100	1	0	0	0	0	0	0	0	1	10554	581	21	2		2	NOTUM	17	79918624	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	37157339	79918624	1276586	60	5846											
ACTL9	284382	genome.wustl.edu	37	chr19	8807881	8807881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaggactggaaggcgcGcagggaggccaggatggagc	19	10	0	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr19:8807881G>A	ENST00000324436.3	-	1	1291	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R391C(1)		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						TGGAAGGCGCGCAGGGAGGCC	0.652																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000181786						37	39	38					19																	8807881		2203	4299	6502	ACTL9	SO:0001583	missense	0			-	HGNC		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.1171C>T	19.37:g.8807881G>A	ENSP00000316674:p.Arg391Cys	Somatic	0	52	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	A8K893|Q6X960	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R391C	ENST00000324436.3	37	c.1171	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	g	10.61	1.399657	0.25291	.	.	ENSG00000181786	ENST00000324436	T	0.08193	3.12	4.51	2.23	0.28157	.	0.317190	0.22565	N	0.058402	T	0.12220	0.0297	L	0.29908	0.895	0.35755	D	0.81972	D	0.76494	0.999	P	0.60886	0.88	T	0.17684	-1.0361	10	0.87932	D	0	.	6.1475	0.20293	0.0884:0.0:0.5749:0.3367	.	391	Q8TC94	ACTL9_HUMAN	C	391	ENSP00000316674:R391C	ENSP00000316674:R391C	R	-	1	0	ACTL9	8668881	0.013000	0.17824	0.431000	0.26735	0.759000	0.43091	0.742000	0.26216	0.564000	0.29238	0.457000	0.33378	CGC	-	pfam_Actin-related,smart_Actin-related		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	protein_coding	OTTHUMT00000459953.1	G	NM_178525	-		8807881	-1	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	SNP	0.994	A	A	8807881	G	A	8807881	3	1	100	1	0	0	0	0	1	0	0	0	203	1087	38	1	83	1	ACTL9	19	8807881	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		8807881	50321102	61	5847											
MAP1S	55201	genome.wustl.edu	37	chr19	17837618	17837618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccgagagcaaagagagCgtgggctcccgggacagctc	16	12	0	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr19:17837618C>T	ENST00000324096.4	+	5	1576	c.1425C>T	c.(1423-1425)agC>agT	p.S475S	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.S449S|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	475	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCAAAGAGAGCGTGGGCTCCC	0.716																																																	0								ENSG00000130479						3	5	4					19																	17837618		1997	3993	5990	MAP1S	SO:0001819	synonymous_variant	0			-	HGNC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1425C>T	19.37:g.17837618C>T		Somatic	0	33	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP							NULL	p.S475	ENST00000324096.4	37	c.1425	CCDS32954.1	19																																																																																			-	NULL		0.716	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	protein_coding	OTTHUMT00000466027.1	C	NM_018174	-		17837618	1	no_errors	ENST00000324096	ensembl	human	known	74_37	silent	SNP	0.383	T	T	17837618	C	T	17837618	2	4	100	1	0	0	0	0	0	0	0	1	9236	767	27	1		1	MAP1S	19	17837618	Silent	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	9029737	17837618	41291365	62	5848											
ZNF430	80264	genome.wustl.edu	37	chr19	21216935	21216935	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacctgatcacctgtctagaGcaaggaaaagagccctggaa	11	10	2	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr19:21216935G>C	ENST00000261560.5	+	4	448	c.267G>C	c.(265-267)gaG>gaC	p.E89D	ZNF430_ENST00000595401.1_Missense_Mutation_p.E88D|ZNF430_ENST00000599548.1_Missense_Mutation_p.E89D	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCTGTCTAGAGCAAGGAAAAG	0.418																																																	0								ENSG00000118620						125	123	124					19																	21216935		2203	4300	6503	ZNF430	SO:0001583	missense	0			-	HGNC	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.267G>C	19.37:g.21216935G>C	ENSP00000261560:p.Glu89Asp	Somatic	0	70	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	Q86V70	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E89D	ENST00000261560.5	37	c.267	CCDS32978.1	19	.	.	.	.	.	.	.	.	.	.	.	9.402	1.078273	0.20227	.	.	ENSG00000118620	ENST00000261560	T	0.01113	5.32	0.195	0.195	0.15151	Krueppel-associated box (3);	.	.	.	.	T	0.03564	0.0102	M	0.84219	2.685	0.09310	N	1	P;P	0.51449	0.945;0.859	B;P	0.51453	0.388;0.67	T	0.28202	-1.0051	8	0.87932	D	0	.	.	.	.	.	88;89	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	D	89	ENSP00000261560:E89D	ENSP00000261560:E89D	E	+	3	2	ZNF430	21008775	0.005000	0.15991	0.185000	0.23176	0.189000	0.23516	-0.665000	0.05286	0.300000	0.22699	0.306000	0.20318	GAG	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.418	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	protein_coding	OTTHUMT00000463539.1	G	NM_025189	-		21216935	1	no_errors	ENST00000261560	ensembl	human	known	74_37	missense	SNP	0.225	C	C	21216935	G	C	21216935	3	2	100	1	0	0	0	0	1	0	0	0	17911	962	34	4	281	4	ZNF430	19	21216935	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	3379317	21216935	37912048	63	5849											
TIMM50	92609	genome.wustl.edu	37	chr19	39971423	39971423	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcccccgcgtttccaTtggctgtagctccggcccgg	11	19	0	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr19:39971423T>A	ENST00000607714.1	+	0	0				TIMM50_ENST00000314349.4_Missense_Mutation_p.I80N|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCGTTTCCATTGGCTGTAGC	0.706																																																	0								ENSG00000105197						15	19	18					19																	39971423		2200	4298	6498	TIMM50	SO:0001631	upstream_gene_variant	0			-	HGNC	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971423T>A	Exception_encountered	Somatic	0	77	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	227	11.67	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP							pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.I80N	ENST00000607714.1	37	c.239		19	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172810	0.57584	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.57	4.57	0.56435	.	0.407398	0.21861	N	0.068030	T	0.49236	0.1545	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.47394	-0.9121	8	.	.	.	-8.9525	10.5134	0.44874	0.0:0.0:0.0:1.0	.	80	Q3ZCQ8-2	.	N	80	.	.	I	+	2	0	TIMM50	44663263	1.000000	0.71417	0.986000	0.45419	0.043000	0.13939	3.126000	0.50477	2.053000	0.61076	0.379000	0.24179	ATT	-	NULL		0.706	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	protein_coding	OTTHUMT00000470728.1	T	NM_001001563	-		39971423	1	no_errors	ENST00000314349	ensembl	human	known	74_37	missense	SNP	0.995	A	A	39971423	T	A	39971423	1	1	100	0	1	0	0	0	0	0	0	0	15920	1493	52	5		5	TIMM50	19	39971423	5'Flank	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	18754488	39971423	19157560	64	5850											
CACNG8	59283	genome.wustl.edu	37	chr19	54481448	54481448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatttcccggaggacaCggactacgaccacgacagcg	10	14	1	0			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr19:54481448C>T	ENST00000270458.2	+	2	435	c.332C>T	c.(331-333)aCg>aTg	p.T111M		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	111					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCGGAGGACACGGACTACGAC	0.642																																																	0								ENSG00000142408						44	38	40					19																	54481448		2203	4299	6502	CACNG8	SO:0001583	missense	0			-	HGNC	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.332C>T	19.37:g.54481448C>T	ENSP00000270458:p.Thr111Met	Somatic	0	73	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	Q9BXT0|Q9BY23	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.T111M	ENST00000270458.2	37	c.332	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564736	0.86439	.	.	ENSG00000142408	ENST00000270458	D	0.88975	-2.45	5.04	5.04	0.67666	.	0.069412	0.56097	U	0.000023	D	0.92159	0.7514	L	0.50333	1.59	0.24569	N	0.993932	D	0.76494	0.999	D	0.68943	0.961	D	0.91873	0.5509	9	0.44086	T	0.13	-4.2802	16.3246	0.82970	0.0:1.0:0.0:0.0	.	111	Q8WXS5	CCG8_HUMAN	M	111	ENSP00000270458:T111M	ENSP00000270458:T111M	T	+	2	0	CACNG8	59173260	0.454000	0.25728	1.000000	0.80357	0.996000	0.88848	1.382000	0.34374	2.512000	0.84698	0.549000	0.68633	ACG	-	pfam_PMP22/EMP/MP20/Claudin		0.642	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	protein_coding	OTTHUMT00000139361.3	C		-		54481448	1	no_errors	ENST00000270458	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54481448	C	T	54481448	3	4	100	1	0	0	0	0	1	0	0	0	2565	536	19	1	338	1	CACNG8	19	54481448	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	14510025	54481448	4647535	65	5851											
UBOX5	22888	genome.wustl.edu	37	chr20	3102120	3102120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtgggtaagaccaaagGgcttgtggcagaaaaacagg	16	5	0	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr20:3102120G>T	ENST00000217173.2	-	3	1636	c.1165C>A	c.(1165-1167)Cct>Act	p.P389T	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.P389T	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AAGACCAAAGGGCTTGTGGCA	0.473																																																	0								ENSG00000185019						107	88	94					20																	3102120		2203	4300	6503	UBOX5	SO:0001583	missense	0			-	HGNC	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1165C>A	20.37:g.3102120G>T	ENSP00000217173:p.Pro389Thr	Somatic	0	64	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	10.87		Missense_Mutation	SNP							pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.P389T	ENST00000217173.2	37	c.1165	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	8.426	0.847615	0.17034	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.28666	1.61;1.6	5.43	4.48	0.54585	.	2.036360	0.02211	U	0.063188	T	0.23210	0.0561	N	0.19112	0.55	0.25649	N	0.986113	B;B;B	0.20671	0.02;0.047;0.02	B;B;B	0.19148	0.016;0.024;0.016	T	0.11372	-1.0590	10	0.23302	T	0.38	-3.5007	8.0563	0.30606	0.195:0.0:0.805:0.0	.	389;389;389	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	T	389	ENSP00000217173:P389T;ENSP00000311726:P389T	ENSP00000217173:P389T	P	-	1	0	UBOX5	3050120	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	2.436000	0.44819	2.543000	0.85770	0.655000	0.94253	CCT	-	NULL		0.473	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	protein_coding	OTTHUMT00000077706.2	G	NM_014948	-		3102120	-1	no_errors	ENST00000217173	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3102120	G	T	3102120	3	4	100	1	0	0	0	0	1	0	0	0	16901	1232	43	3	472	3	UBOX5	20	3102120	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09		3102120	59923400	66	5852											
CENPB	1059	genome.wustl.edu	37	chr20	3767122	3767184	+	Start_Codon_Del	DEL	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	-													aacgtcagctgtcgcctcttGgggcccatcccggcgcgccc					rs537544733|rs200157177|rs567385184|rs370139399|rs267605931	byFrequency	TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr20:3767122_3767184delGGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	ENST00000379751.4	-	0	153_215				CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa						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						GTCGCCTCTTGGGGCCCATcccggcgcgccccccgccccggggcccggcgccgccgccgccgccccggggcggggggcccggg	0.798																																																	0								ENSG00000125817																																			CENPB	SO:0001582	initiator_codon_variant	0				HGNC	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		20.37:g.3767122_3767184delGGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG		Somatic					0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96EI4	In_Frame_Del	DEL							pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.MGP1in_frame_del	ENST00000379751.4	37	c.9_1	CCDS13064.1	20																																																																																			-	superfamily_Homeodomain-like,pfscan_HTH_Psq		0.798	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPB	protein_coding	OTTHUMT00000077772.2	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	NM_001810			3767184	-1	no_errors	ENST00000379751	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	3767184	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	-	3767122	7	5	100	1	0	1	0	1	0	0	0	0	3229	1335	47	0	1794	0	CENPB	20	3767122	Start_Codon_Del	DEL	GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG	TCGA-DX-A8BN-01A-11D-A37C-09	665002	3767122	59258398	67	5853											
MLC1	23209	genome.wustl.edu	37	chr22	50502469	50502470	+	In_Frame_Ins	INS	-	-	GCACCCCCACCCCACAGGCCACTCACCTCCCCG													gcaggccactcacctccccaINSgccaggcgctcctgcgggcc					rs11568189|rs11568190	byFrequency	TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chr22:50502469_50502470insGCACCCCCACCCCACAGGCCACTCACCTCCCCG	ENST00000311597.5	-	11	1658_1659	c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC	c.(1051-1053)gct>gcCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGCt	p.351_351A>AGEVSGLWGGGA	MLC1_ENST00000538737.1_In_Frame_Ins_p.317_317A>AGEVSGLWGGGA|MLC1_ENST00000431262.2_In_Frame_Ins_p.321_321A>AGEVSGLWGGGA|MLC1_ENST00000535444.1_In_Frame_Ins_p.272_272A>AGEVSGLWGGGA|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_In_Frame_Ins_p.351_351A>AGEVSGLWGGGA|MLC1_ENST00000450140.2_In_Frame_Ins_p.299_299A>AGEVSGLWGGGA	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	351					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCACCTCCCCAGCCAGGCGCTC	0.698																																																	0								ENSG00000100427																																			MLC1	SO:0001652	inframe_insertion	0				HGNC	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC	22.37:g.50502469_50502470insGCACCCCCACCCCACAGGCCACTCACCTCCCCG	Exception_encountered	Somatic					0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	In_Frame_Ins	INS							NULL	p.355in_frame_insSGLWGGGAGEV	ENST00000311597.5	37	c.1053_1052	CCDS14083.1	22																																																																																			-	NULL		0.698	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	protein_coding	OTTHUMT00000316979.2	-	NM_015166			50502470	-1	no_errors	ENST00000311597	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	GCACCCCCACCCCACAGGCCACTCACCTCCCCG	GCACCCCCACCCCACAGGCCACTCACCTCCCCG	50502470	-	GCACCCCCACCCCACAGGCCACTCACCTCCCCG	50502469	7	5	100	1	0	1	1	0	0	0	0	0	9614	175	7	0	88	0	MLC1	22	50502469	In_Frame_Ins	INS	-	TCGA-DX-A8BN-01A-11D-A37C-09		50502469	802097	68	5854											
FANCB	2187	genome.wustl.edu	37	chrX	14862776	14862776	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctaagagccacaccttcaTtgaattcagggcatagccgg	9	11	3	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chrX:14862776T>A	ENST00000324138.3	-	8	2167	c.2014A>T	c.(2014-2016)Atg>Ttg	p.M672L	FANCB_ENST00000398334.1_Missense_Mutation_p.M672L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	672					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CACACCTTCATTGAATTCAGG	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0								ENSG00000181544						77	76	76					X																	14862776		2203	4300	6503	FANCB	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2014A>T	X.37:g.14862776T>A	ENSP00000326819:p.Met672Leu	Somatic	0	64	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP							NULL	p.M672L	ENST00000324138.3	37	c.2014	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	T	6.287	0.420975	0.11928	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.5	-6.54	0.01860	.	1.054140	0.07306	N	0.874936	T	0.36248	0.0960	L	0.40543	1.245	0.09310	N	1	B	0.24920	0.114	B	0.20955	0.032	T	0.30736	-0.9968	9	0.51188	T	0.08	0.1749	13.0205	0.58784	0.1083:0.672:0.0:0.2197	.	672	Q8NB91	FANCB_HUMAN	L	672	.	ENSP00000326819:M672L	M	-	1	0	FANCB	14772697	0.318000	0.24598	0.000000	0.03702	0.015000	0.08874	-0.280000	0.08468	-1.543000	0.01723	-0.368000	0.07277	ATG	-	NULL		0.378	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	protein_coding	OTTHUMT00000055835.1	T	NM_152633	-		14862776	-1	no_errors	ENST00000324138	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14862776	T	A	14862776	3	1	100	1	0	0	0	0	1	0	0	0	5665	1493	52	5	573	5	FANCB	23	14862776	Missense_Mutation	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09		14862776	140407784	69	5855											
CCDC22	28952	genome.wustl.edu	37	chrX	49106184	49106184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttcgagacctcgaggagCaggtgaggcctgggggcagg	20	8	0	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chrX:49106184C>A	ENST00000376227.3	+	16	1938	c.1768C>A	c.(1768-1770)Cag>Aag	p.Q590K		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	590										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCTCGAGGAGCAGGTGAGGCC	0.637																																																	0								ENSG00000101997						34	28	30					X																	49106184		2203	4300	6503	CCDC22	SO:0001583	missense	0			-	HGNC	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1768C>A	X.37:g.49106184C>A	ENSP00000365401:p.Gln590Lys	Somatic	0	81	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	49	38.75	A8K7G1	Missense_Mutation	SNP							pfam_DUF812	p.Q590K	ENST00000376227.3	37	c.1768	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430492	0.83776	.	.	ENSG00000101997	ENST00000376227	.	.	.	5.24	5.24	0.73138	.	0.055533	0.64402	D	0.000001	T	0.75072	0.3800	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.71794	-0.4485	9	0.25106	T	0.35	-19.5507	16.5457	0.84445	0.0:1.0:0.0:0.0	.	590	O60826	CCD22_HUMAN	K	590	.	ENSP00000365401:Q590K	Q	+	1	0	CCDC22	48993128	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.897000	0.75671	2.163000	0.67991	0.436000	0.28706	CAG	-	pfam_DUF812		0.637	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	protein_coding	OTTHUMT00000060822.1	C	NM_014008	-		49106184	1	no_errors	ENST00000376227	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49106184	C	A	49106184	3	1	100	1	0	0	0	0	1	0	0	0	2799	711	25	3	1830	3	CCDC22	23	49106184	Missense_Mutation	SNP	C	TCGA-DX-A8BN-01A-11D-A37C-09	34243408	49106184	106164376	70	5856											
FAM120C	54954	genome.wustl.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133																0								ENSG00000184083																																			FAM120C	SO:0001652	inframe_insertion	0				HGNC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup	Somatic					0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RMT7	In_Frame_Ins	INS							NULL	p.112in_frame_insPP	ENST00000375180.2	37	c.330_329	CCDS14356.1	X																																																																																			-	NULL		0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	-	NM_017848			54209303	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	in_frame_ins	INS	0.999:0.998	GGCGGC	GGCGGC	54209303	-	GGCGGC	54209302	7	5	100	1	0	1	1	0	0	0	0	0	5420	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-DX-A8BN-01A-11D-A37C-09	5103118	54209302	101061258	71	5857											
IL2RG	3561	genome.wustl.edu	37	chrX	70328508	70328508	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatcccatggagccaacagaGataaccacggcttccaatgc	8	13	0	1			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chrX:70328508G>C	ENST00000374202.2	-	6	886	c.795C>G	c.(793-795)atC>atG	p.I265M	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000456850.2_Missense_Mutation_p.I75M|IL2RG_ENST00000374188.3_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	265					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	AGCCAACAGAGATAACCACGG	0.448									Severe Combined Immunodeficiency, X-linked																																								0								ENSG00000147168						52	42	46					X																	70328508		2201	4292	6493	IL2RG	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	-	HGNC	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6010	protein-coding gene	gene with protein product		308380	"severe combined immunodeficiency", "combined immunodeficiency, X-linked"	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.795C>G	X.37:g.70328508G>C	ENSP00000363318:p.Ile265Met	Somatic	0	20	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	Q5FC12	Missense_Mutation	SNP							pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.I265M	ENST00000374202.2	37	c.795	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242340	0.39598	.	.	ENSG00000147168	ENST00000374202;ENST00000456850	D;D	0.98075	-4.05;-4.7	4.87	3.01	0.34805	.	0.359502	0.29572	N	0.011771	D	0.97365	0.9138	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.63488	0.901;0.915	D	0.95762	0.8801	10	0.46703	T	0.11	-5.1941	4.3208	0.11016	0.1178:0.0:0.6555:0.2267	.	75;265	Q5FC12;P31785	.;IL2RG_HUMAN	M	265;75	ENSP00000363318:I265M;ENSP00000388967:I75M	ENSP00000363318:I265M	I	-	3	3	IL2RG	70245233	0.420000	0.25457	0.987000	0.45799	0.342000	0.28953	-0.147000	0.10234	2.240000	0.73641	0.600000	0.82982	ATC	-	NULL		0.448	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	protein_coding	OTTHUMT00000057102.2	G		-		70328508	-1	no_errors	ENST00000374202	ensembl	human	known	74_37	missense	SNP	0.918	C	C	70328508	G	C	70328508	3	2	100	1	0	0	0	0	1	0	0	0	7690	932	33	4	326	4	IL2RG	23	70328508	Missense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	16119206	70328508	84942052	72	5858											
ATRX	546	genome.wustl.edu	37	chrX	76939577	76939577	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacttaaaagccttaagctGacgtaattttgtagcagaac	8	7	0	3			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chrX:76939577G>A	ENST00000373344.5	-	9	1385	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q353*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	391					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCCTTAAGCTGACGTAATTTT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						198	205	203					X																	76939577		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1171C>T	X.37:g.76939577G>A	ENSP00000362441:p.Gln391*	Somatic	0	51	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q391*	ENST00000373344.5	37	c.1171	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	g	38	6.843642	0.97881	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.91	4.91	0.64330	.	0.139211	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.3421	17.355	0.87333	0.0:0.0:1.0:0.0	.	.	.	.	X	391;353;347	.	ENSP00000362441:Q391X	Q	-	1	0	ATRX	76826233	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.152000	0.71812	2.022000	0.59522	0.509000	0.49947	CAG	-	NULL		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76939577	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	76939577	G	A	76939577	4	1	100	1	0	0	0	0	0	1	0	0	1208	1299	45	2	6415	2	ATRX	23	76939577	Nonsense_Mutation	SNP	G	TCGA-DX-A8BN-01A-11D-A37C-09	6611069	76939577	78330983	73	5859											
IL13RA1	3597	genome.wustl.edu	37	chrX	117883649	117883649	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgctgtgactgagctTcaatgcatttggcacaacct	10	10	2	2			TCGA-DX-A8BN-01A-11D-A37C-09	TCGA-DX-A8BN-11A-22D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0238c3ff-c720-4350-b0e8-5b4823f91075	87bd9e83-45b1-430d-b7ef-bb83264ebbb3	g.chrX:117883649T>G	ENST00000371666.3	+	4	463	c.396T>G	c.(394-396)ctT>ctG	p.L132L	IL13RA1_ENST00000371642.1_Silent_p.L132L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	132	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGACTGAGCTTCAATGCATTT	0.443																																																	0								ENSG00000131724						319	257	278					X																	117883649		2203	4300	6503	IL13RA1	SO:0001819	synonymous_variant	0			-	HGNC	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.396T>G	X.37:g.117883649T>G		Somatic	0	45	0		0.610476045496972				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.L132	ENST00000371666.3	37	c.396	CCDS14573.1	X																																																																																			-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3		0.443	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	protein_coding	OTTHUMT00000058009.1	T	NM_001560	-		117883649	1	no_errors	ENST00000371666	ensembl	human	known	74_37	silent	SNP	0.048	G	G	117883649	T	G	117883649	2	3	100	1	0	0	0	0	0	0	0	1	7631	1770	62	5		5	IL13RA1	23	117883649	Silent	SNP	T	TCGA-DX-A8BN-01A-11D-A37C-09	40944072	117883649	37386911	74	5860											
KIF1B	23095	genome.wustl.edu	37	chr1	10318638	10318638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcctttgagggatataatGtctgtatttttgcctatggg	11	6	1	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:10318638G>T	ENST00000377086.1	+	4	473	c.271G>T	c.(271-273)Gtc>Ttc	p.V91F	KIF1B_ENST00000377093.4_Missense_Mutation_p.V91F|KIF1B_ENST00000377081.1_Missense_Mutation_p.V91F|KIF1B_ENST00000263934.6_Missense_Mutation_p.V91F|KIF1B_ENST00000377083.1_Missense_Mutation_p.V91F			O60333	KIF1B_HUMAN	kinesin family member 1B	91	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGATATAATGTCTGTATTTT	0.423																																																	0								ENSG00000054523						154	144	147					1																	10318638		2203	4300	6503	KIF1B	SO:0001583	missense	0			-	HGNC	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.271G>T	1.37:g.10318638G>T	ENSP00000366290:p.Val91Phe	Somatic	0	74	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	75	21.88	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V91F	ENST00000377086.1	37	c.271		1	.	.	.	.	.	.	.	.	.	.	G	32	5.114101	0.94339	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.69	5.69	0.88448	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.98;0.993;0.992	D	0.90941	0.4797	10	0.66056	D	0.02	.	19.8093	0.96541	0.0:0.0:1.0:0.0	.	91;91;91;91;91;91;91	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	F	91	ENSP00000263934:V91F;ENSP00000366297:V91F;ENSP00000366290:V91F;ENSP00000366287:V91F;ENSP00000366284:V91F	ENSP00000263934:V91F	V	+	1	0	KIF1B	10241225	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.776000	0.99001	2.688000	0.91661	0.460000	0.39030	GTC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.423	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	protein_coding	OTTHUMT00000005102.1	G		-		10318638	1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10318638	G	T	10318638	3	4	101	1	0	0	0	0	1	0	0	0	8286	1377	48	3	281	3	KIF1B	1	10318638	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		10318638	238931983	1	5861											
TTF2	8458	genome.wustl.edu	37	chr1	117618139	117618139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaagcctgcctcagggGcatttccaagagcggccgga	13	12	1	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:117618139G>A	ENST00000369466.4	+	5	977	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	311					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGCCTCAGGGGCATTTCCAAG	0.617																																																	0								ENSG00000116830						41	43	43					1																	117618139		2203	4300	6503	TTF2	SO:0001819	synonymous_variant	0			-	HGNC	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.933G>A	1.37:g.117618139G>A		Somatic	0	48	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G311	ENST00000369466.4	37	c.933	CCDS892.1	1																																																																																			-	NULL		0.617	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	protein_coding	OTTHUMT00000033277.3	G		-		117618139	1	no_errors	ENST00000369466	ensembl	human	known	74_37	silent	SNP	0.000	A	A	117618139	G	A	117618139	2	1	101	1	0	0	0	0	0	0	0	1	16726	1190	42	2		2	TTF2	1	117618139	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	107299501	117618139	131632482	2	5862											
IQGAP3	128239	genome.wustl.edu	37	chr1	156510676	156510676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagatgggcaaatctgcGtaccacactgagaggagggt	14	8	1	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:156510676G>A	ENST00000361170.2	-	23	2573	c.2563C>T	c.(2563-2565)Cgc>Tgc	p.R855C	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	855					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAAATCTGCGTACCACACTG	0.562																																																	0								ENSG00000183856						81	77	78					1																	156510676		2203	4300	6503	IQGAP3	SO:0001583	missense	0			-	HGNC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2563C>T	1.37:g.156510676G>A	ENSP00000354451:p.Arg855Cys	Somatic	0	20	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	Q5T3H8	Missense_Mutation	SNP							pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.R855C	ENST00000361170.2	37	c.2563	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172519	0.38315	.	.	ENSG00000183856	ENST00000361170	T	0.03635	3.86	5.02	1.98	0.26296	.	0.060473	0.64402	N	0.000005	T	0.01421	0.0046	L	0.40543	1.245	0.58432	D	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.40794	-0.9544	10	0.54805	T	0.06	-4.5393	8.8453	0.35166	0.2675:0.0:0.7325:0.0	.	855	Q86VI3	IQGA3_HUMAN	C	855	ENSP00000354451:R855C	ENSP00000354451:R855C	R	-	1	0	IQGAP3	154777300	0.997000	0.39634	0.372000	0.25991	0.946000	0.59487	2.862000	0.48388	0.654000	0.30846	0.655000	0.94253	CGC	-	NULL		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	protein_coding	OTTHUMT00000080657.1	G	NM_178229	-		156510676	-1	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	SNP	0.643	A	A	156510676	G	A	156510676	3	1	101	1	0	0	0	0	1	0	0	0	7818	1145	40	1	2396	1	IQGAP3	1	156510676	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	38892537	156510676	92739945	3	5863											
C1orf114	57821	genome.wustl.edu	37	chr1	169391311	169391311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atatctccttacttcctcatCctcttcctcctccaagtctt	1	17	4	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:169391311C>A	ENST00000367806.3	-	3	510	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.D120Y|CCDC181_ENST00000545005.1_Missense_Mutation_p.D120Y	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	120	Poly-Glu.					nucleus (GO:0005634)											ACTTCCTCATCCTCTTCCTCC	0.388																																																	0								ENSG00000117477						75	76	76					1																	169391311		2203	4300	6503	CCDC181	SO:0001583	missense	0			-	HGNC	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.358G>T	1.37:g.169391311C>A	ENSP00000356780:p.Asp120Tyr	Somatic	0	21	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP							NULL	p.D120Y	ENST00000367806.3	37	c.358		1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255019	0.59321	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.44482	1.11;1.12;1.11;0.92	5.18	5.18	0.71444	.	0.051913	0.85682	D	0.000000	T	0.57184	0.2036	M	0.67953	2.075	0.41409	D	0.987725	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.99;0.99	T	0.61247	-0.7101	9	0.66056	D	0.02	-23.1123	17.6843	0.88252	0.0:1.0:0.0:0.0	.	120;120;120	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Y	120	ENSP00000356779:D120Y;ENSP00000356780:D120Y;ENSP00000442297:D120Y;ENSP00000411000:D120Y	ENSP00000356779:D120Y	D	-	1	0	C1orf114	167657935	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	4.217000	0.58547	2.413000	0.81919	0.563000	0.77884	GAT	-	NULL		0.388	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC181	protein_coding	OTTHUMT00000086099.1	C	NM_021179	-		169391311	-1	no_errors	ENST00000367806	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169391311	C	A	169391311	3	1	101	1	0	0	0	0	1	0	0	0	1989	855	30	3	1184	3	C1orf114	1	169391311	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	12880635	169391311	79859310	4	5864											
CACNA1S	779	genome.wustl.edu	37	chr1	201013518	201013518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcctcctcagcagCcaggtctcctgagaccgtgc	9	18	2	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:201013518C>A	ENST00000362061.3	-	39	4961	c.4735G>T	c.(4735-4737)Gct>Tct	p.A1579S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1560S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1579					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)	TCCTCAGCAGCCAGGTCTCCT	0.612																																																	0								ENSG00000081248						81	70	74					1																	201013518		2203	4300	6503	CACNA1S	SO:0001583	missense	0			-	HGNC	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.4735G>T	1.37:g.201013518C>A	ENSP00000355192:p.Ala1579Ser	Somatic	0	21	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.A1579S	ENST00000362061.3	37	c.4735	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	9.432	1.085673	0.20390	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95821	-3.82;-3.74	4.89	2.61	0.31194	.	1.228880	0.05615	N	0.578791	D	0.89577	0.6755	N	0.14661	0.345	0.19775	N	0.999958	B	0.02656	0.0	B	0.04013	0.001	T	0.78763	-0.2077	10	0.21540	T	0.41	.	8.1245	0.30990	0.0:0.1695:0.0:0.8305	.	1579	Q13698	CAC1S_HUMAN	S	1579;1560	ENSP00000355192:A1579S;ENSP00000356307:A1560S	ENSP00000355192:A1579S	A	-	1	0	CACNA1S	199280141	1.000000	0.71417	0.965000	0.40720	0.429000	0.31625	2.540000	0.45727	0.729000	0.32403	-0.378000	0.06908	GCT	-	NULL		0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	C	NM_000069	-		201013518	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	SNP	0.930	A	A	201013518	C	A	201013518	3	1	101	1	0	0	0	0	1	0	0	0	2549	739	26	3	910	3	CACNA1S	1	201013518	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	31622207	201013518	48237103	5	5865											
RYR2	6262	genome.wustl.edu	37	chr1	237780697	237780697	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacaatcaacgtttcCgatacaacgaagtcatgcaa	6	11	2	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:237780697C>G	ENST00000366574.2	+	38	6144	c.5827C>G	c.(5827-5829)Cga>Gga	p.R1943G	RYR2_ENST00000360064.6_Missense_Mutation_p.R1941G|RYR2_ENST00000542537.1_Missense_Mutation_p.R1927G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1943	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAACGTTTCCGATACAACGA	0.468																																																	0								ENSG00000198626						102	94	96					1																	237780697		1982	4187	6169	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5827C>G	1.37:g.237780697C>G	ENSP00000355533:p.Arg1943Gly	Somatic	0	36	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R1941G	ENST00000366574.2	37	c.5821	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062420	0.76187	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.39	4.45	0.53987	.	0.000000	0.56097	D	0.000033	D	0.85217	0.5646	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86910	0.2060	10	0.87932	D	0	.	14.1661	0.65477	0.2793:0.7207:0.0:0.0	.	1943	Q92736	RYR2_HUMAN	G	1943;1941;1927	ENSP00000355533:R1943G;ENSP00000353174:R1941G;ENSP00000443798:R1927G	ENSP00000353174:R1941G	R	+	1	2	RYR2	235847320	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	3.310000	0.51911	1.199000	0.43173	0.650000	0.86243	CGA	-	NULL		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035	-		237780697	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	G	G	237780697	C	G	237780697	3	3	101	1	0	0	0	0	1	0	0	0	13777	644	23	4	5977	4	RYR2	1	237780697	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	36767179	237780697	11469924	6	5866											
ZNF638	27332	genome.wustl.edu	37	chr2	71653803	71653803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aactatcttttgtgacattgGatgagattggggaagaggaa	13	3	1	3			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr2:71653803G>T	ENST00000409544.1	+	24	5434	c.4804G>T	c.(4804-4806)Gat>Tat	p.D1602Y	ZNF638_ENST00000409407.1_Missense_Mutation_p.D542Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1602Y|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1602					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						TGTGACATTGGATGAGATTGG	0.393																																																	0								ENSG00000075292						106	104	105					2																	71653803		2203	4300	6503	ZNF638	SO:0001583	missense	0			-	HGNC	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.4804G>T	2.37:g.71653803G>T	ENSP00000386433:p.Asp1602Tyr	Somatic	0	47	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP							pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.D1602Y	ENST00000409544.1	37	c.4804	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330322	0.60743	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.62105	0.05;0.05;0.39	5.69	4.82	0.62117	.	0.183711	0.37393	N	0.002116	T	0.66499	0.2795	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.915	T	0.70015	-0.4988	10	0.72032	D	0.01	-16.335	12.3182	0.54969	0.0817:0.0:0.9183:0.0	.	1602;1602	Q14966-3;Q14966	.;ZN638_HUMAN	Y	1602;1602;542;542	ENSP00000264447:D1602Y;ENSP00000386433:D1602Y;ENSP00000386813:D542Y	ENSP00000264447:D1602Y	D	+	1	0	ZNF638	71507311	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.741000	0.74837	1.416000	0.47057	0.650000	0.86243	GAT	-	NULL		0.393	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	G	NM_014497	-		71653803	1	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71653803	G	T	71653803	3	4	101	1	0	0	0	0	1	0	0	0	18062	1174	41	3	4894	3	ZNF638	2	71653803	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		71653803	171545570	7	5867											
ANO7	50636	genome.wustl.edu	37	chr2	242162614	242162614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggtatcgggctttcCgggatgacgatggacattat	14	8	0	1	rs372507979		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr2:242162614C>T	ENST00000274979.8	+	22	2600	c.2497C>T	c.(2497-2499)Cgg>Tgg	p.R833W	ANO7_ENST00000402430.3_Missense_Mutation_p.R832W	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	833					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCGGGCTTTCCGGGATGACGA	0.567																																																	0								ENSG00000146205	C	TRP/ARG	0,4406		0,0,2203	227	202	210		2497	-3.8	0.4	2		210	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANO7	NM_001001891.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	833/934	242162614	1,13005	2203	4300	6503	ANO7	SO:0001583	missense	0			-	HGNC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2497C>T	2.37:g.242162614C>T	ENSP00000274979:p.Arg833Trp	Somatic	0	55	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	Q6IWH6	Missense_Mutation	SNP							pfam_Anoctamin	p.R833W	ENST00000274979.8	37	c.2497	CCDS33423.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498233|2.498233	0.44455|0.44455	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.76968	.|-0.89;-1.06	3.45|3.45	-3.77|-3.77	0.04346|0.04346	.|.	.|.	.|.	.|.	.|.	D|D	0.88890|0.88890	0.6560|0.6560	H|H	0.95187|0.95187	3.635|3.635	0.36162|0.36162	D|D	0.848205|0.848205	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88456|0.88456	0.3052|0.3052	5|9	.|0.87932	.|D	.|0	.|.	9.2136|9.2136	0.37333|0.37333	0.4817:0.4031:0.1152:0.0|0.4817:0.4031:0.1152:0.0	.|.	.|833	.|Q6IWH7	.|ANO7_HUMAN	L|W	145|833;832	.|ENSP00000274979:R833W;ENSP00000385418:R832W	.|ENSP00000274979:R833W	P|R	+|+	2|1	0|2	ANO7|ANO7	241811287|241811287	0.002000|0.002000	0.14202|0.14202	0.421000|0.421000	0.26609|0.26609	0.472000|0.472000	0.32918|0.32918	-0.539000|-0.539000	0.06113|0.06113	-0.575000|-0.575000	0.05982|0.05982	0.467000|0.467000	0.42956|0.42956	CCG|CGG	-	pfam_Anoctamin		0.567	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	C	NM_001001891	-		242162614	1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	SNP	0.985	T	T	242162614	C	T	242162614	3	4	101	1	0	0	0	0	1	0	0	0	702	643	23	1	2655	1	ANO7	2	242162614	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	170508811	242162614	1036759	8	5868											
NR1D2	9975	genome.wustl.edu	37	chr3	24009400	24009426	+	In_Frame_Del	DEL	ATGGGAGCAGGGGATCTGCTAAACTCT	ATGGGAGCAGGGGATCTGCTAAACTCT	-													gtgtggatgatttacactcaAtgggagcaggggatctgcta					rs369670854|rs150332369		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	ATGGGAGCAGGGGATCTGCTAAACTCT	ATGGGAGCAGGGGATCTGCTAAACTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr3:24009400_24009426delATGGGAGCAGGGGATCTGCTAAACTCT	ENST00000312521.4	+	7	1748_1774	c.1429_1455delATGGGAGCAGGGGATCTGCTAAACTCT	c.(1429-1455)atgggagcaggggatctgctaaactctdel	p.MGAGDLLNS477del	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	477	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G478fs*6(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTTACACTCAATGGGAGCAGGGGATCTGCTAAACTCTATGTTTGAAT	0.405																																																	1	Deletion - Frameshift(1)	prostate(1)						ENSG00000174738																																			NR1D2	SO:0001651	inframe_deletion	0				HGNC	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1429_1455delATGGGAGCAGGGGATCTGCTAAACTCT	3.37:g.24009400_24009426delATGGGAGCAGGGGATCTGCTAAACTCT	ENSP00000310006:p.Met477_Ser485del	Somatic					0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R8Q3|O00402|Q86XD4	In_Frame_Del	DEL							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.GAGDLLNSM478in_frame_del	ENST00000312521.4	37	c.1429_1455	CCDS33718.1	3																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.405	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	protein_coding	OTTHUMT00000341017.3	ATGGGAGCAGGGGATCTGCTAAACTCT				24009426	1	no_errors	ENST00000312521	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.919:1.000:1.000:0.089:1.000:1.000:0.973:1.000:1.000:0.998:1.000:1.000:0.963:1.000:1.000:1.000:1.000:1.000:0.903	-	-	24009426	ATGGGAGCAGGGGATCTGCTAAACTCT	-	24009400	7	5	101	1	0	1	0	1	0	0	0	0	10618	101	4	0	1455	0	NR1D2	3	24009400	In_Frame_Del	DEL	ATGGGAGCAGGGGATCTGCTAAACTCT	TCGA-DX-A8BO-01A-11D-A417-09		24009400	174013030	9	5869											
DCLK3	85443	genome.wustl.edu	37	chr3	36759571	36759571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgatgttaaagagctcGtcctggtccctctcagggct	12	10	1	2	rs370718609		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr3:36759571G>A	ENST00000416516.2	-	4	2173	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	561	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TAAAGAGCTCGTCCTGGTCCC	0.552																																																	0								ENSG00000163673	G		1,4085		0,1,2042	152	166	161		1683	-6.3	0.9	3		161	0,8414		0,0,4207	no	coding-synonymous	DCLK3	NM_033403.1		0,1,6249	AA,AG,GG		0.0,0.0245,0.0080		561/649	36759571	1,12499	2043	4207	6250	DCLK3	SO:0001819	synonymous_variant	0			-	HGNC	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1683C>T	3.37:g.36759571G>A		Somatic	0	58	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	43	40.28		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D561	ENST00000416516.2	37	c.1683	CCDS43064.1	3																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	protein_coding	OTTHUMT00000341727.1	G	XM_047355	-		36759571	-1	no_errors	ENST00000416516	ensembl	human	known	74_37	silent	SNP	0.748	A	A	36759571	G	A	36759571	2	1	101	1	0	0	0	0	0	0	0	1	4295	1136	40	1		1	DCLK3	3	36759571	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	12750171	36759571	161262859	10	5870											
ABLIM2	84448	genome.wustl.edu	37	chr4	8079395	8079395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttctcacagctgtcaCagcggatgccgaacttggcg	11	11	2	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr4:8079395C>T	ENST00000341937.5	-	6	699	c.635G>A	c.(634-636)tGt>tAt	p.C212Y	ABLIM2_ENST00000546334.1_Missense_Mutation_p.C212Y|ABLIM2_ENST00000407564.3_Missense_Mutation_p.C212Y|ABLIM2_ENST00000296372.8_Missense_Mutation_p.C212Y|ABLIM2_ENST00000505872.1_Missense_Mutation_p.C212Y|ABLIM2_ENST00000545242.1_Missense_Mutation_p.C212Y|ABLIM2_ENST00000361737.5_Missense_Mutation_p.C212Y|ABLIM2_ENST00000428004.2_Missense_Mutation_p.C212Y|ABLIM2_ENST00000447017.2_Missense_Mutation_p.C212Y|ABLIM2_ENST00000361581.5_Missense_Mutation_p.C212Y|ABLIM2_ENST00000318888.4_De_novo_Start_OutOfFrame	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	212	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACAGCTGTCACAGCGGATGCC	0.657																																																	0								ENSG00000163995						39	41	40					4																	8079395		2112	4229	6341	ABLIM2	SO:0001583	missense	0			-	HGNC	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.635G>A	4.37:g.8079395C>T	ENSP00000342813:p.Cys212Tyr	Somatic	0	57	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP							pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.C212Y	ENST00000341937.5	37	c.635	CCDS47013.1	4	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645951	0.67358	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	D;D;D;D;D;D;D;D;D;D	0.99319	-5.74;-5.74;-5.74;-5.74;-5.74;-5.74;-5.74;-5.74;-5.74;-5.74	4.17	4.17	0.49024	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.97540	4.025	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;0.996;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.998;0.998;1.0;0.959;1.0	D	0.97309	0.9936	10	0.87932	D	0	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	217;212;212;212;212;212;212;212	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	Y	212	ENSP00000354887:C212Y;ENSP00000296372:C212Y;ENSP00000441255:C212Y;ENSP00000444365:C212Y;ENSP00000393511:C212Y;ENSP00000342813:C212Y;ENSP00000355003:C212Y;ENSP00000384658:C212Y;ENSP00000421283:C212Y;ENSP00000389410:C212Y	ENSP00000296372:C212Y	C	-	2	0	ABLIM2	8130295	1.000000	0.71417	0.904000	0.35570	0.438000	0.31896	7.019000	0.76412	2.149000	0.67028	0.561000	0.74099	TGT	-	pfam_Znf_LIM,smart_Znf_LIM		0.657	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	protein_coding	OTTHUMT00000358862.2	C	NM_001130083	-		8079395	-1	no_errors	ENST00000447017	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8079395	C	T	8079395	3	4	101	1	0	0	0	0	1	0	0	0	95	478	17	2	1420	2	ABLIM2	4	8079395	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09		8079395	183074881	11	5871											
IGFBP7	3490	genome.wustl.edu	37	chr4	57907080	57907080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattccagatgtccttgggGggcgtcactatggaaggacc	13	10	1	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr4:57907080G>A	ENST00000295666.4	-	2	528	c.495C>T	c.(493-495)ccC>ccT	p.P165P	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Silent_p.P165P	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	165	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGTCCTTGGGGGGCGTCACTA	0.498																																																	0								ENSG00000163453						73	63	67					4																	57907080		2203	4300	6503	IGFBP7	SO:0001819	synonymous_variant	0			-	HGNC	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.495C>T	4.37:g.57907080G>A		Somatic	0	24	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Silent	SNP							pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.P165	ENST00000295666.4	37	c.495	CCDS3512.1	4																																																																																			-	pfam_Ig_I-set,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom		0.498	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFBP7	protein_coding	OTTHUMT00000250693.1	G		-		57907080	-1	no_errors	ENST00000295666	ensembl	human	known	74_37	silent	SNP	0.989	A	A	57907080	G	A	57907080	2	1	101	1	0	0	0	0	0	0	0	1	7586	1219	43	2		2	IGFBP7	4	57907080	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	49827685	57907080	133247196	12	5872											
PARP8	79668	genome.wustl.edu	37	chr5	50130827	50130827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccccaatactgaccatGtctgcacacgattctttttc	5	13	2	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr5:50130827G>A	ENST00000281631.5	+	25	2598	c.2440G>A	c.(2440-2442)Gtc>Atc	p.V814I	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.V772I|PARP8_ENST00000505554.1_Missense_Mutation_p.V793I|PARP8_ENST00000503750.2_Missense_Mutation_p.V772I|PARP8_ENST00000505697.2_Missense_Mutation_p.V814I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	814	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACTGACCATGTCTGCACACG	0.383																																																	0								ENSG00000151883						125	114	118					5																	50130827		2203	4300	6503	PARP8	SO:0001583	missense	0			-	HGNC	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2440G>A	5.37:g.50130827G>A	ENSP00000281631:p.Val814Ile	Somatic	0	59	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.V814I	ENST00000281631.5	37	c.2440	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	G	29.4	5.007230	0.93287	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.81	5.81	0.92471	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.65228	0.2671	N	0.25201	0.72	0.80722	D	1	P;D;P	0.53312	0.92;0.959;0.92	D;D;D	0.68192	0.956;0.949;0.956	T	0.61173	-0.7116	8	.	.	.	-12.426	20.0784	0.97758	0.0:0.0:1.0:0.0	.	706;772;814	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	814;772;814;772;793	.	.	V	+	1	0	PARP8	50166584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GTC	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.383	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	protein_coding	OTTHUMT00000214035.3	G	NM_024615	-		50130827	1	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50130827	G	A	50130827	3	1	101	1	0	0	0	0	1	0	0	0	11467	1377	48	2	2538	2	PARP8	5	50130827	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		50130827	130784433	13	5873											
PLK2	10769	genome.wustl.edu	37	chr5	57750738	57750738	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgaagagttcatttacCtgaaaggtgccatcattaaa	7	8	2	3			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr5:57750738C>A	ENST00000274289.3	-	13	2166	c.1866G>T	c.(1864-1866)caG>caT	p.Q622H	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	622	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTTCATTTACCTGAAAGGTGC	0.398																																																	0								ENSG00000145632						173	179	177					5																	57750738		2203	4300	6503	PLK2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1866+1G>T	5.37:g.57750738C>A		Somatic	0	28	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.Q622H	ENST00000274289.3	37	c.1866	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612235	0.66672	.	.	ENSG00000145632	ENST00000274289	T	0.52526	0.66	6.01	6.01	0.97437	POLO box duplicated domain (2);	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78048	-0.2356	9	.	.	.	-19.9784	14.1022	0.65065	0.0:0.9231:0.0:0.0769	.	622	Q9NYY3	PLK2_HUMAN	H	622	ENSP00000274289:Q622H	.	Q	-	3	2	PLK2	57786495	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.695000	0.61767	2.860000	0.98153	0.655000	0.94253	CAG	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom		0.398	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	protein_coding	OTTHUMT00000214150.1	C	NM_006622	-	Missense_Mutation	57750738	-1	no_errors	ENST00000274289	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57750738	C	A	57750738	5	1	101	1	0	0	0	0	0	0	1	0	12098	695	24	3	199	3	PLK2	5	57750738	Splice_Site	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	7619911	57750738	123164522	14	5874											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182991	140182991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactgtgggccgggcaagCccacgctggtgtgctccagc	16	14	0	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr5:140182991C>T	ENST00000522353.2	+	1	2209	c.2209C>T	c.(2209-2211)Ccc>Tcc	p.P737S	PCDHA3_ENST00000532566.2_Missense_Mutation_p.P737S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	737	6 X 4 AA repeats of P-X-X-P.				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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGGCAAGCCCACGCTGGT	0.647																																																	0								ENSG00000255408						78	85	83					5																	140182991		2203	4300	6503	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2209C>T	5.37:g.140182991C>T	ENSP00000429808:p.Pro737Ser	Somatic	0	41	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O75286	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P737S	ENST00000522353.2	37	c.2209	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	9.384	1.073870	0.20147	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.75704	-0.96;-0.96	3.88	2.98	0.34508	.	0.000000	0.41605	U	0.000845	T	0.75649	0.3878	M	0.89214	3.015	0.09310	N	1	B;B	0.29612	0.251;0.043	B;B	0.33750	0.169;0.031	T	0.70346	-0.4897	10	0.54805	T	0.06	.	6.7557	0.23512	0.0:0.6373:0.249:0.1137	.	737;737	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	737	ENSP00000429808:P737S;ENSP00000434086:P737S	ENSP00000429808:P737S	P	+	1	0	PCDHA3	140163175	0.000000	0.05858	0.912000	0.35992	0.273000	0.26683	0.049000	0.14099	1.854000	0.53819	0.467000	0.42956	CCC	-	NULL		0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	C	NM_018906	-		140182991	1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	0.005	T	T	140182991	C	T	140182991	3	4	101	1	0	0	0	0	1	0	0	0	11527	739	26	2	2211	2	PCDHA3	5	140182991	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	82432253	140182991	40732269	15	5875											
UNC5A	90249	genome.wustl.edu	37	chr5	176305353	176305353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctatccatccacgatgtgCccagctccctgtggaagagt	10	14	0	1	rs574883228		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr5:176305353C>T	ENST00000329542.4	+	12	2252	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	UNC5A_ENST00000261961.3_Missense_Mutation_p.P620S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	660					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACGATGTGCCCAGCTCCCT	0.622													C|||	1	0.000199681	0	0	5008	,	,		19126	0		0	False		,,,				2504	0.001																0								ENSG00000113763						103	105	104					5																	176305353		2203	4300	6503	UNC5A	SO:0001583	missense	0			-	HGNC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1978C>T	5.37:g.176305353C>T	ENSP00000332737:p.Pro660Ser	Somatic	0	29	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP							pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P660S	ENST00000329542.4	37	c.1978	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173490	0.57584	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.49720	0.77;1.1	5.03	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.41356	1.27	0.58432	D	0.999993	D	0.60160	0.987	P	0.56788	0.806	T	0.54741	-0.8248	10	0.45353	T	0.12	-35.2902	15.0719	0.72042	0.0:0.8572:0.1428:0.0	.	660	Q6ZN44	UNC5A_HUMAN	S	660;620	ENSP00000332737:P660S;ENSP00000261961:P620S	ENSP00000261961:P620S	P	+	1	0	UNC5A	176237959	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.924000	0.70054	1.312000	0.45043	0.491000	0.48974	CCC	-	NULL		0.622	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	protein_coding	OTTHUMT00000372166.1	C	XM_030300	-		176305353	1	no_errors	ENST00000329542	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176305353	C	T	176305353	3	4	101	1	0	0	0	0	1	0	0	0	16998	739	26	2	2024	2	UNC5A	5	176305353	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	36122362	176305353	4609907	16	5876											
USP45	85015	genome.wustl.edu	37	chr6	99894289	99894289	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttctggtatgtgacagtTtctccagatgacaattttct	7	7	3	3			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr6:99894289T>A	ENST00000327681.6	-	14	1891	c.1359A>T	c.(1357-1359)gaA>gaT	p.E453D	USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.E453D|USP45_ENST00000369233.2_Missense_Mutation_p.E405D|USP45_ENST00000392738.2_Missense_Mutation_p.E133D	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	453	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATGTGACAGTTTCTCCAGATG	0.358																																																	0								ENSG00000123552						42	39	40					6																	99894289		2203	4300	6503	USP45	SO:0001583	missense	0			-	HGNC	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1359A>T	6.37:g.99894289T>A	ENSP00000333376:p.Glu453Asp	Somatic	0	47	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.E453D	ENST00000327681.6	37	c.1359	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210455	0.58343	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.19532	2.14;3.67;3.67;3.49	5.51	3.17	0.36434	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.453160	0.23405	N	0.048527	T	0.05364	0.0142	L	0.39245	1.2	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.15484	0.007;0.013	T	0.15435	-1.0437	10	0.10636	T	0.68	.	8.0409	0.30521	0.0:0.1585:0.0:0.8415	.	453;133	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	D	133;453;453;405	ENSP00000376495:E133D;ENSP00000424372:E453D;ENSP00000333376:E453D;ENSP00000358236:E405D	ENSP00000333376:E453D	E	-	3	2	USP45	100001010	0.692000	0.27719	0.662000	0.29724	0.397000	0.30659	0.555000	0.23422	0.929000	0.37192	0.477000	0.44152	GAA	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.358	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	protein_coding	OTTHUMT00000041609.2	T	NM_032929	-		99894289	-1	no_errors	ENST00000327681	ensembl	human	known	74_37	missense	SNP	0.934	A	A	99894289	T	A	99894289	3	1	101	1	0	0	0	0	1	0	0	0	17083	1838	64	5	1105	5	USP45	6	99894289	Missense_Mutation	SNP	T	TCGA-DX-A8BO-01A-11D-A417-09		99894289	71220778	17	5877											
GPR37	2861	genome.wustl.edu	37	chr7	124404110	124404110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaagatgatgagaaaGtcccagaaggccaggttggc	14	7	0	6			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr7:124404110G>C	ENST00000303921.2	-	1	1571	c.921C>G	c.(919-921)gaC>gaG	p.D307E		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	307					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGATGAGAAAGTCCCAGAAGG	0.547																																																	0								ENSG00000170775						125	133	130					7																	124404110		2203	4300	6503	GPR37	SO:0001583	missense	0			-	HGNC		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.921C>G	7.37:g.124404110G>C	ENSP00000306449:p.Asp307Glu	Somatic	0	33	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.D307E	ENST00000303921.2	37	c.921	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699112	0.68501	.	.	ENSG00000170775	ENST00000303921	D	0.87966	-2.32	5.53	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.167388	0.51477	D	0.000081	D	0.93015	0.7777	M	0.88775	2.98	0.43667	D	0.996094	D	0.89917	1.0	D	0.91635	0.999	D	0.92363	0.5899	10	0.87932	D	0	-40.3063	8.6167	0.33835	0.32:0.0:0.68:0.0	.	307	O15354	GPR37_HUMAN	E	307	ENSP00000306449:D307E	ENSP00000306449:D307E	D	-	3	2	GPR37	124191346	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.867000	0.39499	0.903000	0.36546	-0.163000	0.13421	GAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	protein_coding	OTTHUMT00000347873.1	G	NM_005302	-		124404110	-1	no_errors	ENST00000303921	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124404110	G	C	124404110	3	2	101	1	0	0	0	0	1	0	0	0	6693	1020	36	4	928	4	GPR37	7	124404110	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		124404110	34734553	18	5878											
DEFB106A	503841	genome.wustl.edu	37	chr8	7340204	7340204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagagcaataagttcttcAtttttcccgcaattgttctt	6	9	3	1	rs138253070	byFrequency	TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:7340204A>G	ENST00000335479.2	-	2	137	c.120T>C	c.(118-120)aaT>aaC	p.N40N		NM_001040704.1	NP_001035794.1	Q8N104	D106A_HUMAN	defensin, beta 106B	40					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TAAGTTCTTCATTTTTCCCGC	0.413																																																	0								ENSG00000187082						8	11	10					8																	7340204		1657	3516	5173	DEFB106B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34813.1	8p23.1	2011-03-29			ENSG00000187082	ENSG00000187082		"Defensins, beta"	28879	protein-coding gene	gene with protein product							Standard	NM_001040704		Approved			Q8N104	OTTHUMG00000129312	ENST00000335479.2:c.120T>C	8.37:g.7340204A>G		Somatic	0	41	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	Q2NKR0|Q496I8	Silent	SNP							NULL	p.N40	ENST00000335479.2	37	c.120	CCDS34813.1	8																																																																																			-	NULL		0.413	DEFB106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB106B	protein_coding	OTTHUMT00000251444.1	A		rs138253070		7340204	-1	no_errors	ENST00000335479	ensembl	human	known	74_37	silent	SNP	0.791	G	G	7340204	A	G	7340204	2	3	101	1	0	0	0	0	0	0	0	1	4399	214	8	5		5	DEFB106A	8	7340204	Silent	SNP	A	TCGA-DX-A8BO-01A-11D-A417-09		7340204	139023818	19	5879											
PXDNL	137902	genome.wustl.edu	37	chr8	52284449	52284449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgcacagcagtcttgCcacactcgcaggtccacctt	8	16	1	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:52284449C>T	ENST00000356297.4	-	19	3985	c.3885G>A	c.(3883-3885)tgG>tgA	p.W1295*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.W1295*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1295					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)			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)				AGCAGTCTTGCCACACTCGCA	0.468																																																	0								ENSG00000147485						58	57	57					8																	52284449		2059	4191	6250	PXDNL	SO:0001587	stop_gained	0			-	HGNC		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.3885G>A	8.37:g.52284449C>T	ENSP00000348645:p.Trp1295*	Somatic	0	19	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.W1295*	ENST00000356297.4	37	c.3885	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.934336|8.934336	0.99008|0.99008	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|.	.|.	.|.	4.76|4.76	3.87|3.87	0.44632|0.44632	.|.	.|0.000000	.|0.44483	.|D	.|0.000456	T|.	0.27594|.	0.0678|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29579|.	-1.0007|.	3|.	.|0.02654	.|T	.|1	.|.	12.0494|12.0494	0.53498|0.53498	0.174:0.826:0.0:0.0|0.174:0.826:0.0:0.0	.|.	.|.	.|.	.|.	D|X	369|1295	.|.	.|ENSP00000348645:W1295X	G|W	-|-	2|3	0|0	PXDNL|PXDNL	52447002|52447002	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.264000|0.264000	0.26372|0.26372	5.047000|5.047000	0.64232|0.64232	0.988000|0.988000	0.38734|0.38734	0.491000|0.491000	0.48974|0.48974	GGC|TGG	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	C	NM_144651	-		52284449	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	52284449	C	T	52284449	4	4	101	1	0	0	0	0	0	1	0	0	12856	740	26	2	526	2	PXDNL	8	52284449	Nonsense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	44944245	52284449	94079573	20	5880											
SLC25A32	81034	genome.wustl.edu	37	chr8	104417074	104417074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccttctgttttatatgaCttgatggcattgtaactaaa	6	7	1	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:104417074C>T	ENST00000297578.4	-	3	487	c.321G>A	c.(319-321)aaG>aaA	p.K107K	SLC25A32_ENST00000543107.1_Intron|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	107					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTTTATATGACTTGATGGCAT	0.358																																																	0								ENSG00000164933						129	104	113					8																	104417074		2203	4300	6503	SLC25A32	SO:0001819	synonymous_variant	0			-	HGNC	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.321G>A	8.37:g.104417074C>T		Somatic	0	39	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q96JZ6|Q96SU7	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.K107	ENST00000297578.4	37	c.321	CCDS6300.1	8																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.358	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	protein_coding	OTTHUMT00000380290.2	C	NM_030780	-		104417074	-1	no_errors	ENST00000297578	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104417074	C	T	104417074	2	4	101	1	0	0	0	0	0	0	0	1	14504	564	20	2		2	SLC25A32	8	104417074	Silent	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	52132625	104417074	41946948	21	5881											
FAM135B	51059	genome.wustl.edu	37	chr8	139164696	139164696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagatctcttgatgacCccggatagcactgagagttc	11	9	1	5	rs578029235		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:139164696C>T	ENST00000395297.1	-	13	2192	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	674										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTGATGACCCCGGATAGCA	0.522										HNSCC(54;0.14)																																							0								ENSG00000147724						84	83	83					8																	139164696		1928	4124	6052	FAM135B	SO:0001819	synonymous_variant	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2022G>A	8.37:g.139164696C>T		Somatic	0	30	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP							pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.G674	ENST00000395297.1	37	c.2022	CCDS6375.2	8																																																																																			-	NULL		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	C	NM_015912	-		139164696	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	SNP	0.136	T	T	139164696	C	T	139164696	2	4	101	1	0	0	0	0	0	0	0	1	5451	610	22	2		2	FAM135B	8	139164696	Silent	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	34747622	139164696	7199326	22	5882											
TOP1MT	116447	genome.wustl.edu	37	chr8	144397980	144397980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctcagccacctgctccttCtttgcctggatctgcaggaa	9	15	3	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:144397980C>G	ENST00000329245.4	-	12	1504	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	TOP1MT_ENST00000521193.1_Missense_Mutation_p.K392N|TOP1MT_ENST00000523676.1_Missense_Mutation_p.K392N|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K392N|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	490					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTGCTCCTTCTTTGCCTGGA	0.657																																																	0								ENSG00000184428						97	66	76					8																	144397980		2203	4300	6503	TOP1MT	SO:0001583	missense	0			-	HGNC	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1470G>C	8.37:g.144397980C>G	ENSP00000328835:p.Lys490Asn	Somatic	0	60	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	60	21.05	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP							pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.K490N	ENST00000329245.4	37	c.1470	CCDS6400.1	8	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309845	0.40895	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	3.56	1.65	0.23941	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.000000	0.46758	U	0.000278	T	0.71719	0.3373	M	0.93763	3.455	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.74241	-0.3729	9	.	.	.	.	8.6222	0.33868	0.0:0.7832:0.0:0.2168	.	285;490	E7ESI1;Q969P6	.;TOP1M_HUMAN	N	490;392;392;392	ENSP00000328835:K490N;ENSP00000428369:K392N;ENSP00000429169:K392N;ENSP00000429181:K392N	.	K	-	3	2	TOP1MT	144469355	1.000000	0.71417	0.007000	0.13788	0.135000	0.20990	1.527000	0.35975	0.598000	0.29829	0.514000	0.50259	AAG	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk		0.657	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	protein_coding	OTTHUMT00000381247.3	C	NM_052963	-		144397980	-1	no_errors	ENST00000329245	ensembl	human	known	74_37	missense	SNP	1.000	G	G	144397980	C	G	144397980	3	3	101	1	0	0	0	0	1	0	0	0	16371	912	32	4	347	4	TOP1MT	8	144397980	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	5233284	144397980	1966042	23	5883											
VCP	7415	genome.wustl.edu	37	chr9	35059774	35059774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccagctcatcaaagaataGcacacagggggcagcttggc	11	11	2	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr9:35059774G>T	ENST00000358901.6	-	14	2615	c.1720C>A	c.(1720-1722)Cta>Ata	p.L574I		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	574					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAAAGAATAGCACACAGGGG	0.517																																																	0								ENSG00000165280						64	61	62					9																	35059774		2203	4300	6503	VCP	SO:0001583	missense	0			-	HGNC	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1720C>A	9.37:g.35059774G>T	ENSP00000351777:p.Leu574Ile	Somatic	0	42	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.L574I	ENST00000358901.6	37	c.1720	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633844	0.67130	.	.	ENSG00000165280	ENST00000358901	D	0.96232	-3.95	5.15	3.3	0.37823	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	N	0.04043	-0.29	0.80722	D	1	B	0.31949	0.348	P	0.48901	0.594	D	0.84790	0.0778	10	0.10377	T	0.69	-24.7556	11.1723	0.48579	0.1496:0.0:0.8504:0.0	.	574	P55072	TERA_HUMAN	I	574	ENSP00000351777:L574I	ENSP00000351777:L574I	L	-	1	2	VCP	35049774	1.000000	0.71417	0.660000	0.29694	0.996000	0.88848	5.248000	0.65421	0.544000	0.28883	0.650000	0.86243	CTA	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48		0.517	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	protein_coding	OTTHUMT00000052290.1	G	NM_007126	-		35059774	-1	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	SNP	0.999	T	T	35059774	G	T	35059774	3	4	101	1	0	0	0	0	1	0	0	0	17147	962	34	3	716	3	VCP	9	35059774	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		35059774	106153657	24	5884											
PCSK5	5125	genome.wustl.edu	37	chr9	78710909	78710909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaacagcatctacaccaTctccatcagcagcactgcag	5	17	3	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr9:78710909T>C	ENST00000545128.1	+	8	1536	c.998T>C	c.(997-999)aTc>aCc	p.I333T	PCSK5_ENST00000376767.3_Missense_Mutation_p.I333T|PCSK5_ENST00000376752.4_Missense_Mutation_p.I333T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	333	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATCTACACCATCTCCATCAGC	0.542																																																	0								ENSG00000099139						177	144	156					9																	78710909		2203	4300	6503	PCSK5	SO:0001583	missense	0			-	HGNC		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.998T>C	9.37:g.78710909T>C	ENSP00000446280:p.Ile333Thr	Somatic	0	46	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.I333T	ENST00000545128.1	37	c.998	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508667	0.85282	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.8	5.8	0.92144	.	0.045626	0.85682	D	0.000000	D	0.96552	0.8875	M	0.93720	3.45	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	D	0.97527	1.0077	10	0.87932	D	0	-25.5858	16.1459	0.81569	0.0:0.0:0.0:1.0	.	333;333	Q92824-2;B1AMG5	.;.	T	333;36;333;333;333;6	ENSP00000446280:I333T;ENSP00000365958:I333T;ENSP00000365943:I333T;ENSP00000411654:I6T	ENSP00000365943:I333T	I	+	2	0	PCSK5	77900729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.221000	0.72209	0.528000	0.53228	ATC	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	protein_coding		T		-		78710909	1	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	SNP	1.000	C	C	78710909	T	C	78710909	3	2	101	1	0	0	0	0	1	0	0	0	11605	1435	50	5	1028	5	PCSK5	9	78710909	Missense_Mutation	SNP	T	TCGA-DX-A8BO-01A-11D-A417-09	43651135	78710909	62502522	25	5885											
PRAP1	118471	genome.wustl.edu	37	chr10	135163599	135163599	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctctggccccccctcagGctcctcctggtcaccagcct	7	22	3	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr10:135163599G>T	ENST00000433452.2	+	2	281	c.9G>T	c.(7-9)agG>agT	p.R3S	PRAP1_ENST00000458230.1_Splice_Site_p.R3S|RP11-122K13.7_ENST00000452591.1_RNA|ZNF511_ENST00000368554.4_Splice_Site_p.R162S|PRAP1_ENST00000423766.1_Splice_Site_p.R3S			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	3						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		CCCCCCTCAGGCTCCTCCTGG	0.662																																																	0								ENSG00000198546						72	56	61					10																	135163599		2203	4300	6503	ZNF511	SO:0001630	splice_region_variant	0			-	HGNC	AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.9-1G>T	10.37:g.135163599G>T		Somatic	0	23	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP							smart_Znf_C2H2-like	p.R162S	ENST00000433452.2	37	c.486	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021839	0.35701	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230;ENST00000415747	T;T;T;T	0.53206	0.77;0.81;0.8;0.63	3.05	1.16	0.20824	.	.	.	.	.	T	0.48960	0.1529	L	0.29908	0.895	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.969	T	0.29488	-1.0010	8	.	.	.	.	5.3733	0.16152	0.255:0.0:0.745:0.0	.	3;3	A6XND8;Q96NZ9	.;PRAP1_HUMAN	S	162;3;3;3;3	ENSP00000357542:R162S;ENSP00000416126:R3S;ENSP00000409495:R3S;ENSP00000402700:R3S	.	R	+	3	2	ZNF511;PRAP1	135013589	0.978000	0.34361	0.023000	0.16930	0.008000	0.06430	1.559000	0.36320	0.313000	0.23062	0.467000	0.42956	AGG	-	NULL		0.662	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	protein_coding	OTTHUMT00000051132.1	G	NM_145202	-	Missense_Mutation	135163599	1	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	SNP	0.027	T	T	135163599	G	T	135163599	5	4	101	1	0	0	0	0	0	0	1	0	12446	1217	42	3	15	3	PRAP1	10	135163599	Splice_Site	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		135163599	371148	26	5886											
DNHD1	144132	genome.wustl.edu	37	chr11	6519602	6519602	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaagccagtgactgagtcaGagcagcccacagtgctggaa	13	10	1	4			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr11:6519602G>T	ENST00000527990.2	+	1	157	c.157G>T	c.(157-159)Gag>Tag	p.E53*	DNHD1_ENST00000354685.3_Nonsense_Mutation_p.E53*|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000254579.6_Nonsense_Mutation_p.E53*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	53					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACTGAGTCAGAGCAGCCCAC	0.547																																																	0								ENSG00000179532						151	145	147					11																	6519602		2201	4296	6497	DNHD1	SO:0001587	stop_gained	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.157G>T	11.37:g.6519602G>T	ENSP00000436180:p.Glu53*	Somatic	0	19	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.E53*	ENST00000527990.2	37	c.157	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140037	0.56936	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	.	.	.	5.22	2.24	0.28232	.	0.674172	0.13716	N	0.367723	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	7.383	0.26866	0.0892:0.3231:0.5877:0.0	.	.	.	.	X	53	.	ENSP00000254579:E53X	E	+	1	0	DNHD1	6476178	0.010000	0.17322	0.001000	0.08648	0.285000	0.27093	1.330000	0.33781	0.189000	0.20188	-0.259000	0.10710	GAG	-	NULL		0.547	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	G	NM_144666	-		6519602	1	no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	6519602	G	T	6519602	4	4	101	1	0	0	0	0	0	1	0	0	4670	943	33	3	159	3	DNHD1	11	6519602	Nonsense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		6519602	128486914	27	5887											
KLC2	64837	genome.wustl.edu	37	chr11	66032513	66032513	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggacaacaagcccatctgGatgcacgcagaggagcggga	16	10	1	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr11:66032513G>A	ENST00000417856.1	+	10	1479	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*	KLC2_ENST00000394066.2_Nonsense_Mutation_p.W335*|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394065.2_Nonsense_Mutation_p.W273*|KLC2_ENST00000316924.5_Nonsense_Mutation_p.W412*|KLC2_ENST00000421552.1_Nonsense_Mutation_p.W335*|KLC2_ENST00000394067.2_Nonsense_Mutation_p.W412*|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	412					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCCATCTGGATGCACGCAG	0.632											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000174996						87	87	87					11																	66032513		2200	4295	6495	KLC2	SO:0001587	stop_gained	0			-	HGNC	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1236G>A	11.37:g.66032513G>A	ENSP00000399403:p.Trp412*	Somatic	0	17	0	1088	0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Nonsense_Mutation	SNP							pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W412*	ENST00000417856.1	37	c.1236	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.610519	0.98387	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	.	.	.	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.85	16.2192	0.82247	0.0:0.0:1.0:0.0	.	.	.	.	X	412;412;412;335;335;273	.	ENSP00000314837:W412X	W	+	3	0	KLC2	65789089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.522000	0.98032	2.351000	0.79841	0.561000	0.74099	TGG	-	NULL		0.632	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	protein_coding	OTTHUMT00000258200.1	G	NM_022822	-		66032513	1	no_errors	ENST00000316924	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	66032513	G	A	66032513	4	1	101	1	0	0	0	0	0	1	0	0	8336	1183	41	2	1270	2	KLC2	11	66032513	Nonsense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	59512911	66032513	68974003	28	5888											
MMP3	4314	genome.wustl.edu	37	chr11	102708089	102708089	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagtcttcagctatttGcttgggaaagcctggctcca	11	9	2	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr11:102708089G>A	ENST00000299855.5	-	9	1529	c.1273C>T	c.(1273-1275)Caa>Taa	p.Q425*	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	425					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCAGCTATTTGCTTGGGAAAG	0.413																																																	0								ENSG00000149968						142	145	144					11																	102708089		2203	4299	6502	MMP3	SO:0001587	stop_gained	0			-	HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1273C>T	11.37:g.102708089G>A	ENSP00000299855:p.Gln425*	Somatic	0	34	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2R8B8|Q3B7S0|Q6GRF8	Nonsense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.Q425*	ENST00000299855.5	37	c.1273	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	G	7.976	0.750052	0.15778	.	.	ENSG00000149968	ENST00000299855	.	.	.	5.17	-8.1	0.01086	.	1.424740	0.05080	N	0.483202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.4997	0.99955	0.0:0.0:0.2121:0.7879	.	.	.	.	X	425	.	ENSP00000299855:Q425X	Q	-	1	0	MMP3	102213299	0.000000	0.05858	0.001000	0.08648	0.436000	0.31835	-0.796000	0.04575	-0.938000	0.03714	0.655000	0.94253	CAA	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.413	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	G	NM_002422	-		102708089	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	102708089	G	A	102708089	4	1	101	1	0	0	0	0	0	1	0	0	9668	1328	46	2	168	2	MMP3	11	102708089	Nonsense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	36675576	102708089	32298427	29	5889											
VWF	7450	genome.wustl.edu	37	chr12	6078465	6078465	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctccagctgggggcaggaGacgttcctttgttgtataaa	12	9	0	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:6078465G>T	ENST00000261405.5	-	45	7895	c.7641C>A	c.(7639-7641)gtC>gtA	p.V2547V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2547					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGGGCAGGAGACGTTCCTTT	0.607																																																	0								ENSG00000110799						51	50	50					12																	6078465		2203	4300	6503	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7641C>A	12.37:g.6078465G>T		Somatic	0	51	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q8TCE8|Q99806	Silent	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.V2547	ENST00000261405.5	37	c.7641	CCDS8539.1	12																																																																																			-	pirsf_VWF		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	G	NM_000552	-		6078465	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	0.999	T	T	6078465	G	T	6078465	2	4	101	1	0	0	0	0	0	0	0	1	17253	929	33	3		3	VWF	12	6078465	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		6078465	127773430	30	5890											
FGD4	121512	genome.wustl.edu	37	chr12	32786595	32786599	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-													aagtggattcacagacagtgAagaaaagaaaagaaaaggaa					rs139663812		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	AAGAA	AAGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:32786595_32786599delAAGAA	ENST00000427716.2	+	15	2298_2302	c.1874_1878delAAGAA	c.(1873-1878)gaagaafs	p.EE625fs	FGD4_ENST00000266482.3_Frame_Shift_Del_p.EE377fs|FGD4_ENST00000546442.1_Frame_Shift_Del_p.EE532fs|FGD4_ENST00000534526.2_Frame_Shift_Del_p.EE762fs|FGD4_ENST00000531134.1_Frame_Shift_Del_p.EE710fs|FGD4_ENST00000525053.1_Frame_Shift_Del_p.EE737fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	625					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|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(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACAGACAGTGAAGAAAAGAAAAGAA	0.341																																																	0								ENSG00000139132																																			FGD4	SO:0001589	frameshift_variant	0				HGNC	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1874_1878delAAGAA	12.37:g.32786605_32786609delAAGAA	ENSP00000394487:p.Glu625fs	Somatic					0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6ULS2|Q8TCP6	Frame_Shift_Del	DEL							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.K628fs	ENST00000427716.2	37	c.1874_1878	CCDS8727.1	12																																																																																			-	superfamily_Znf_FYVE_PHD		0.341	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	protein_coding	OTTHUMT00000268017.1	AAGAA	NM_139241			32786599	1	no_errors	ENST00000427716	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.997:1.000:1.000:1.000	-	-	32786599	AAGAA	-	32786595	7	5	101	1	0	1	0	1	0	0	0	0	5837	246	9	0	1924	0	FGD4	12	32786595	Frame_Shift_Del	DEL	AAGAA	TCGA-DX-A8BO-01A-11D-A417-09	26708130	32786595	101065300	31	5891											
BCL7A	605	genome.wustl.edu	37	chr12	122492735	122492735	+	Missense_Mutation	SNP	A	A	C													ttctgatgagcagaattcacAgtcctcgatggaacattcga							TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:122492735A>C	ENST00000261822.4	+	5	670	c.464A>C	c.(463-465)cAg>cCg	p.Q155P	BCL7A_ENST00000538010.1_Missense_Mutation_p.Q155P	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	155					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CAGAATTCACAGTCCTCGATG	0.537			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0								ENSG00000110987						129	136	134					12																	122492735		2203	4300	6503	BCL7A	SO:0001583	missense	0			-	HGNC	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.464A>C	12.37:g.122492735A>C	ENSP00000261822:p.Gln155Pro	Somatic	0	41	0	1519	0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP							pfam_BCL7	p.Q155P	ENST00000261822.4	37	c.464	CCDS53841.1	12	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161526	0.38119	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.48522	0.81;0.83	6.07	4.91	0.64330	.	0.171731	0.52532	D	0.000080	T	0.40171	0.1106	N	0.12182	0.205	0.49051	D	0.999744	D;D	0.59767	0.976;0.986	P;P	0.54174	0.454;0.744	T	0.16778	-1.0391	10	0.21014	T	0.42	.	12.6969	0.57010	0.8763:0.0:0.0:0.1236	.	155;155	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	P	155	ENSP00000445868:Q155P;ENSP00000261822:Q155P	ENSP00000261822:Q155P	Q	+	2	0	BCL7A	120977118	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	4.651000	0.61447	1.093000	0.41377	-0.333000	0.08304	CAG	-	NULL		0.537	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	protein_coding	OTTHUMT00000401712.1	A		-		122492735	1	no_errors	ENST00000538010	ensembl	human	known	74_37	missense	SNP	1.000	C	C	122492735	A	C	122492735	3	2	101	1	0	0	0	0	1	0	0	0	1378	188	7	5	482	5	BCL7A	12	122492735	Missense_Mutation	SNP	A	TCGA-DX-A8BO-01A-11D-A417-09	89706140	122492735	11359160	32	5892	65	3									
BCL7A	605	genome.wustl.edu	37	chr12	122492738	122492759	+	Frame_Shift_Del	DEL	CCTCGATGGAACATTCGATGAA	CCTCGATGGAACATTCGATGAA	-													tgatgagcagaattcacagtCctcgatggaacattcgatga							TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	CCTCGATGGAACATTCGATGAA	CCTCGATGGAACATTCGATGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:122492738_122492759delCCTCGATGGAACATTCGATGAA	ENST00000261822.4	+	5	673_694	c.467_488delCCTCGATGGAACATTCGATGAA	c.(466-489)tcctcgatggaacattcgatgaacfs	p.SSMEHSMN156fs	BCL7A_ENST00000538010.1_Frame_Shift_Del_p.SSMEHSMN156fs	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	156					negative regulation of transcription, DNA-templated (GO:0045892)			p.S157S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AATTCACAGTCCTCGATGGAACATTCGATGAACAGCTCAGAG	0.563			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	1	Substitution - coding silent(1)	kidney(1)						ENSG00000110987																																			BCL7A	SO:0001589	frameshift_variant	0				HGNC	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.467_488delCCTCGATGGAACATTCGATGAA	12.37:g.122492738_122492759delCCTCGATGGAACATTCGATGAA	ENSP00000261822:p.Ser156fs	Somatic				1519	0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DJN6|B7ZB21|Q13843|Q14CT7	Frame_Shift_Del	DEL							pfam_BCL7	p.S157fs	ENST00000261822.4	37	c.467_488	CCDS53841.1	12																																																																																			-	NULL		0.563	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	protein_coding	OTTHUMT00000401712.1	CCTCGATGGAACATTCGATGAA				122492759	1	no_errors	ENST00000538010	ensembl	human	known	74_37	frame_shift_del	DEL	0.998:0.788:0.889:0.922:0.867:0.892:0.997:1.000:1.000:1.000:1.000:1.000:0.998:0.980:0.978:0.978:0.033:0.105:0.677:0.984:1.000:0.998	-	-	122492759	CCTCGATGGAACATTCGATGAA	-	122492738	7	5	101	1	0	1	0	1	0	0	0	0	1378	855	30	0	485	0	BCL7A	12	122492738	Frame_Shift_Del	DEL	CCTCGATGGAACATTCGATGAA	TCGA-DX-A8BO-01A-11D-A417-09	3	122492738	11359157	33	5893	65	3									
BCL7A	605	genome.wustl.edu	37	chr12	122492739	122492760	+	Frame_Shift_Del	DEL	CTCGATGGAACATTCGATGAAC	CTCGATGGAACATTCGATGAAC	-													gatgagcagaattcacagtcCtcgatggaacattcgatgaa							TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	CTCGATGGAACATTCGATGAAC	CTCGATGGAACATTCGATGAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:122492739_122492760delCTCGATGGAACATTCGATGAAC	ENST00000261822.4	+	5	674_695	c.468_489delCTCGATGGAACATTCGATGAAC	c.(466-489)tcctcgatggaacattcgatgaacfs	p.SSMEHSMN156fs	BCL7A_ENST00000538010.1_Frame_Shift_Del_p.SSMEHSMN156fs	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	156					negative regulation of transcription, DNA-templated (GO:0045892)			p.S157S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ATTCACAGTCCTCGATGGAACATTCGATGAACAGCTCAGAGA	0.563			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	1	Substitution - coding silent(1)	kidney(1)						ENSG00000110987																																			BCL7A	SO:0001589	frameshift_variant	0				HGNC	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.468_489delCTCGATGGAACATTCGATGAAC	12.37:g.122492739_122492760delCTCGATGGAACATTCGATGAAC	ENSP00000261822:p.Ser156fs	Somatic				1519	0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DJN6|B7ZB21|Q13843|Q14CT7	Frame_Shift_Del	DEL							pfam_BCL7	p.S157fs	ENST00000261822.4	37	c.468_489	CCDS53841.1	12																																																																																			-	NULL		0.563	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	protein_coding	OTTHUMT00000401712.1	CTCGATGGAACATTCGATGAAC				122492760	1	no_errors	ENST00000538010	ensembl	human	known	74_37	frame_shift_del	DEL	0.788:0.889:0.922:0.867:0.892:0.997:1.000:1.000:1.000:1.000:1.000:0.998:0.980:0.978:0.978:0.033:0.105:0.677:0.984:1.000:0.998:1.000	-	-	122492760	CTCGATGGAACATTCGATGAAC	-	122492739	7	5	101	1	0	1	0	1	0	0	0	0	1378	668	24	0	486	0	BCL7A	12	122492739	Frame_Shift_Del	DEL	CTCGATGGAACATTCGATGAAC	TCGA-DX-A8BO-01A-11D-A417-09	1	122492739	11359156	34	5894	65	3									
RB1	5925	genome.wustl.edu	37	chr13	48939108	48939108	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctaatggacttccagagGtaatctgaaaggaaatttaa	8	6	2	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr13:48939108G>A	ENST00000267163.4	+	9	1077		c.e9+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACTTCCAGAGGTAATCTGAAA	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139687						19	18	18					13																	48939108		2123	4234	6357	RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.939+1G>A	13.37:g.48939108G>A		Somatic	0	62	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	62	30.34	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP							-	e9+1	ENST00000267163.4	37	c.939+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165514	0.78339	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2315	0.89936	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47837109	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.662000	0.74426	2.657000	0.90304	0.655000	0.94253	.	-	-		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-	Intron	48939108	1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	48939108	G	A	48939108	5	1	101	1	0	0	0	0	0	0	1	0	13106	1275	44	2	974	2	RB1	13	48939108	Splice_Site	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		48939108	66230770	35	5895											
RBM26	64062	genome.wustl.edu	37	chr13	79945126	79945126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagtcctgcttctatctctGtccctctcacgaagcctctc	5	17	4	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr13:79945126G>T	ENST00000438737.2	-	5	1028	c.588C>A	c.(586-588)gaC>gaA	p.D196E	RBM26_ENST00000267229.7_Missense_Mutation_p.D196E|RBM26_ENST00000438724.1_Missense_Mutation_p.D196E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	196	Arg-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCTATCTCTGTCCCTCTCAC	0.418																																																	0								ENSG00000139746						173	176	175					13																	79945126		2203	4300	6503	RBM26	SO:0001583	missense	0			-	HGNC	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.588C>A	13.37:g.79945126G>T	ENSP00000387531:p.Asp196Glu	Somatic	0	32	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP							pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D196E	ENST00000438737.2	37	c.588		13	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229569	0.39399	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.05649	3.41;3.41	5.07	3.91	0.45181	.	0.284554	0.37348	N	0.002138	T	0.03434	0.0099	N	0.16478	0.41	0.48185	D	0.999605	B;B;B	0.19935	0.04;0.023;0.04	B;B;B	0.17098	0.017;0.008;0.017	T	0.47355	-0.9124	9	.	.	.	-16.5691	4.0135	0.09632	0.6795:0.0:0.1678:0.1527	.	196;196;196	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	E	196;197;196;196	ENSP00000267229:D196E;ENSP00000390222:D196E	.	D	-	3	2	RBM26	78843127	0.952000	0.32445	1.000000	0.80357	0.868000	0.49771	0.095000	0.15127	0.798000	0.33994	-0.484000	0.04775	GAC	-	NULL		0.418	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	protein_coding	OTTHUMT00000045373.4	G	NM_022118	-		79945126	-1	no_errors	ENST00000438724	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79945126	G	T	79945126	3	4	101	1	0	0	0	0	1	0	0	0	13134	1368	48	3	2422	3	RBM26	13	79945126	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	31006018	79945126	35224752	36	5896											
TEP1	7011	genome.wustl.edu	37	chr14	20837037	20837037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactcaggtagcacatggaGggctgtgacagagcccgagt	14	10	1	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr14:20837037G>T	ENST00000262715.5	-	54	7721	c.7681C>A	c.(7681-7683)Ctc>Atc	p.L2561I	TEP1_ENST00000556935.1_Missense_Mutation_p.L2453I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2561					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCACATGGAGGGCTGTGACA	0.527																																																	0								ENSG00000129566						83	65	71					14																	20837037		2203	4300	6503	TEP1	SO:0001583	missense	0			-	HGNC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7681C>A	14.37:g.20837037G>T	ENSP00000262715:p.Leu2561Ile	Somatic	0	38	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A0AUV9	Missense_Mutation	SNP							pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2561I	ENST00000262715.5	37	c.7681	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629250	0.87560	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.60040	0.22;0.22	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.69097	0.3073	L	0.39467	1.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	T	0.66901	-0.5806	10	0.44086	T	0.13	-2.5983	16.9916	0.86355	0.0:0.0:1.0:0.0	.	2453;2561	G3V5X7;Q99973	.;TEP1_HUMAN	I	2561;2553;2453	ENSP00000262715:L2561I;ENSP00000452574:L2453I	ENSP00000262715:L2561I	L	-	1	0	TEP1	19906877	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.816000	0.62642	2.759000	0.94783	0.591000	0.81541	CTC	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	G	NM_007110	-		20837037	-1	no_errors	ENST00000262715	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20837037	G	T	20837037	3	4	101	1	0	0	0	0	1	0	0	0	15766	1000	35	3	210	3	TEP1	14	20837037	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		20837037	86512503	37	5897											
RYR3	6263	genome.wustl.edu	37	chr15	34093019	34093019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattctgaccagctcttccgCatggtggcagaagtcttcat	10	11	4	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr15:34093019C>T	ENST00000389232.4	+	68	9949	c.9879C>T	c.(9877-9879)cgC>cgT	p.R3293R	RYR3_ENST00000415757.3_Silent_p.R3293R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3293					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)		AGCTCTTCCGCATGGTGGCAG	0.423																																																	0								ENSG00000198838						115	109	110					15																	34093019		1862	4102	5964	RYR3	SO:0001819	synonymous_variant	0			-	HGNC		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.9879C>T	15.37:g.34093019C>T		Somatic	0	65	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O15175|Q15412	Silent	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R3293	ENST00000389232.4	37	c.9879	CCDS45210.1	15																																																																																			-	superfamily_ARM-type_fold		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		34093019	1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	SNP	0.977	T	T	34093019	C	T	34093019	2	4	101	1	0	0	0	0	0	0	0	1	13778	697	25	2		2	RYR3	15	34093019	Silent	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09		34093019	68438373	38	5898											
GJD2	57369	genome.wustl.edu	37	chr15	35045372	35045372	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagtaggtgatgaagcaAagactgggggtacacaccat	13	7	0	4			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr15:35045372A>G	ENST00000290374.4	-	2	749	c.273T>C	c.(271-273)ctT>ctC	p.L91L	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	91					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGATGAAGCAAAGACTGGGGG	0.572																																																	0								ENSG00000159248						97	90	92					15																	35045372		2201	4298	6499	GJD2	SO:0001819	synonymous_variant	0			-	HGNC	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.273T>C	15.37:g.35045372A>G		Somatic	0	42	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q2M241|Q9P2R0	Silent	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.L91	ENST00000290374.4	37	c.273	CCDS10040.1	15																																																																																			-	pfam_Connexin_N,prints_Connexin		0.572	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	protein_coding	OTTHUMT00000251875.2	A		-		35045372	-1	no_errors	ENST00000290374	ensembl	human	known	74_37	silent	SNP	1.000	G	G	35045372	A	G	35045372	2	3	101	1	0	0	0	0	0	0	0	1	6419	1	1	5		5	GJD2	15	35045372	Silent	SNP	A	TCGA-DX-A8BO-01A-11D-A417-09	952353	35045372	67486020	39	5899											
WDR24	84219	genome.wustl.edu	37	chr16	736871	736871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgccgccacctggctccGtctcaaagacactgagggca	11	16	1	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr16:736871G>A	ENST00000248142.6	-	7	1594	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.T402M|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	532										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				ACCTGGCTCCGTCTCAAAGAC	0.647																																																	0								ENSG00000127580						17	18	18					16																	736871		2194	4296	6490	WDR24	SO:0001583	missense	0			-	HGNC	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1595C>T	16.37:g.736871G>A	ENSP00000248142:p.Thr532Met	Somatic	0	33	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	24.19	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T532M	ENST00000248142.6	37	c.1595		16	.	.	.	.	.	.	.	.	.	.	G	1.556	-0.538070	0.04082	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.78364	-1.17;0.24	4.38	-0.581	0.11713	.	0.419185	0.26578	N	0.023599	T	0.60418	0.2267	N	0.24115	0.695	0.30214	N	0.797429	B	0.10296	0.003	B	0.04013	0.001	T	0.52741	-0.8535	10	0.46703	T	0.11	-12.9468	9.5144	0.39095	0.1551:0.0:0.8449:0.0	.	402	Q96S15-2	.	M	532;402	ENSP00000248142:T532M;ENSP00000293883:T402M	ENSP00000248142:T532M	T	-	2	0	WDR24	676872	1.000000	0.71417	0.072000	0.20136	0.145000	0.21501	3.346000	0.52190	-0.173000	0.10761	-0.302000	0.09304	ACG	-	NULL		0.647	WDR24-201	KNOWN	basic	protein_coding	WDR24	protein_coding		G	NM_032259	-		736871	-1	no_errors	ENST00000248142	ensembl	human	known	74_37	missense	SNP	0.358	A	A	736871	G	A	736871	3	1	101	1	0	0	0	0	1	0	0	0	17288	1145	40	1	1195	1	WDR24	16	736871	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		736871	89617882	40	5900											
GNAO1	2775	genome.wustl.edu	37	chr16	56362604	56362604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaccgagcccttctctgCagagctgctttctgccatga	9	14	2	3			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr16:56362604C>T	ENST00000262493.6	+	4	1211	c.365C>T	c.(364-366)gCa>gTa	p.A122V	GNAO1_ENST00000262494.7_Missense_Mutation_p.A122V	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	122					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCCTTCTCTGCAGAGCTGCTT	0.567																																																	0								ENSG00000087258						104	91	95					16																	56362604		2198	4300	6498	GNAO1	SO:0001583	missense	0			-	HGNC		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.365C>T	16.37:g.56362604C>T	ENSP00000262493:p.Ala122Val	Somatic	0	39	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.A122V	ENST00000262493.6	37	c.365	CCDS10756.1	16	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617740	0.66787	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.88741	-2.42;-2.42	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.190934	0.44902	D	0.000401	D	0.85017	0.5601	L	0.33710	1.025	0.42369	D	0.992444	B;B	0.12013	0.005;0.004	B;B	0.14023	0.01;0.006	T	0.82047	-0.0651	10	0.72032	D	0.01	.	18.1807	0.89777	0.0:1.0:0.0:0.0	.	122;122	P09471;P09471-2	GNAO_HUMAN;.	V	122	ENSP00000262493:A122V;ENSP00000262494:A122V	ENSP00000262493:A122V	A	+	2	0	GNAO1	54920105	0.921000	0.31238	0.998000	0.56505	0.993000	0.82548	4.739000	0.62080	2.276000	0.75962	0.462000	0.41574	GCA	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.567	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAO1	protein_coding	OTTHUMT00000256981.2	C	NM_020988	-		56362604	1	no_errors	ENST00000262493	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56362604	C	T	56362604	3	4	101	1	0	0	0	0	1	0	0	0	6510	710	25	2	379	2	GNAO1	16	56362604	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	55625733	56362604	33992149	41	5901											
ZDHHC1	29800	genome.wustl.edu	37	chr16	67432540	67432540	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacaggaggcccagaaggatGagcagggcggccagggccag	19	10	0	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr16:67432540G>A	ENST00000348579.2	-	7	1091	c.750C>T	c.(748-750)ctC>ctT	p.L250L	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	250					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CCAGAAGGATGAGCAGGGCGG	0.627																																																	0								ENSG00000159714						31	37	35					16																	67432540		2197	4300	6497	ZDHHC1	SO:0001819	synonymous_variant	0			-	HGNC	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.750C>T	16.37:g.67432540G>A		Somatic	0	30	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	O15461	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L250	ENST00000348579.2	37	c.750	CCDS10836.1	16																																																																																			-	NULL		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	protein_coding	OTTHUMT00000268845.1	G	NM_013304	-		67432540	-1	no_errors	ENST00000348579	ensembl	human	known	74_37	silent	SNP	0.998	A	A	67432540	G	A	67432540	2	1	101	1	0	0	0	0	0	0	0	1	17607	1277	45	2		2	ZDHHC1	16	67432540	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	11069936	67432540	22922213	42	5902											
ATP2A3	489	genome.wustl.edu	37	chr17	3831528	3831528	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaggtgataccaaagagGccaacccggtgtggtctggg	14	10	1	2			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr17:3831528G>T	ENST00000352011.3	-	21	3123				ATP2A3_ENST00000397041.3_Intron|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A1025D|ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A1025D|ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A1025D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TACCAAAGAGGCCAACCCGGT	0.602																																					GBM(32;29 774 15719 37967)												0								ENSG00000074370						59	50	53					17																	3831528		2203	4300	6503	ATP2A3	SO:0001627	intron_variant	0			-	HGNC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.3068+5C>A	17.37:g.3831528G>T		Somatic	0	24	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A1025D	ENST00000352011.3	37	c.3074	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690181	0.48097	.	.	ENSG00000074370	ENST00000359983;ENST00000309890;ENST00000397035	D;D;D	0.94650	-3.48;-3.46;-3.46	5.17	4.2	0.49525	.	.	.	.	.	D	0.94298	0.8168	.	.	.	0.32666	N	0.517445	P;P	0.51537	0.946;0.946	P;B	0.52424	0.698;0.387	D	0.94056	0.7322	8	0.37606	T	0.19	.	10.9315	0.47220	0.0878:0.0:0.9122:0.0	.	1025;1025	G3XAE1;Q93084-3	.;.	D	1025	ENSP00000353072:A1025D;ENSP00000312577:A1025D;ENSP00000380229:A1025D	ENSP00000312577:A1025D	A	-	2	0	ATP2A3	3778277	0.979000	0.34478	0.999000	0.59377	0.824000	0.46624	1.805000	0.38883	1.325000	0.45301	0.561000	0.74099	GCC	-	NULL		0.602	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	G	NM_174953	-		3831528	-1	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3831528	G	T	3831528	1	4	101	0	1	0	0	0	0	0	0	0	1138	1203	42	3		3	ATP2A3	17	3831528	Intron	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		3831528	77363682	43	5903											
SHBG	6462	genome.wustl.edu	37	chr17	7534625	7534625	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accagcaaacgccatcccatCatgaggattgcgcttggggg	12	12	1	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr17:7534625C>T	ENST00000380450.4	+	4	532	c.501C>T	c.(499-501)atC>atT	p.I167I	SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575903.1_Silent_p.I167I|SHBG_ENST00000441599.2_Silent_p.I167I|SHBG_ENST00000570547.1_Silent_p.I109I|SHBG_ENST00000575314.1_Silent_p.I109I|SHBG_ENST00000574539.1_Silent_p.I109I|SHBG_ENST00000416273.3_Silent_p.I167I|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Silent_p.I109I|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	167	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GCCATCCCATCATGAGGATTG	0.612																																																	2	Unknown(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)						ENSG00000129214						44	41	42					17																	7534625		2203	4300	6503	SHBG	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.501C>T	17.37:g.7534625C>T		Somatic	0	29	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	15	61.54	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf	p.H137Y	ENST00000380450.4	37	c.409	CCDS11117.1	17																																																																																			-	NULL		0.612	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	protein_coding	OTTHUMT00000226957.2	C	NM_001040	-		7534625	1	no_errors	ENST00000570353	ensembl	human	known	74_37	missense	SNP	0.001	T	T	7534625	C	T	7534625	2	4	101	1	0	0	0	0	0	0	0	1	14277	816	29	2		2	SHBG	17	7534625	Silent	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	3703097	7534625	73660585	44	5904											
PHF12	57649	genome.wustl.edu	37	chr17	27233396	27233396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaaggctgtgccctcccaGccggccccactgcccccaat	9	19	0	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr17:27233396G>T	ENST00000332830.4	-	15	3630	c.2820C>A	c.(2818-2820)ggC>ggA	p.G940G	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGCCCTCCCAGCCGGCCCCAC	0.607																																																	0								ENSG00000109118						48	51	50					17																	27233396		2203	4300	6503	PHF12	SO:0001819	synonymous_variant	0			-	HGNC	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2820C>A	17.37:g.27233396G>T		Somatic	0	34	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.G940	ENST00000332830.4	37	c.2820	CCDS32598.1	17																																																																																			-	NULL		0.607	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	protein_coding	OTTHUMT00000255941.1	G	NM_020889	-		27233396	-1	no_errors	ENST00000332830	ensembl	human	known	74_37	silent	SNP	1.000	T	T	27233396	G	T	27233396	2	4	101	1	0	0	0	0	0	0	0	1	11825	958	34	3		3	PHF12	17	27233396	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	19698771	27233396	53961814	45	5905											
DMKN	93099	genome.wustl.edu	37	chr19	36003580	36003580	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcattccaaagctgcctgctGagtttccggggtatccgtgg	12	11	1	1			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr19:36003580G>T	ENST00000339686.3	-	2	715	c.539C>A	c.(538-540)tCa>tAa	p.S180*	DMKN_ENST00000418261.1_Nonsense_Mutation_p.S180*|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Nonsense_Mutation_p.S180*|DMKN_ENST00000440396.1_Nonsense_Mutation_p.S180*|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000424570.2_Nonsense_Mutation_p.S180*|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000451297.2_Nonsense_Mutation_p.S180*|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000419602.1_Nonsense_Mutation_p.S180*|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Nonsense_Mutation_p.S180*|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000461300.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	180	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGCCTGCTGAGTTTCCGGG	0.602																																																	0								ENSG00000161249						73	76	75					19																	36003580		2203	4300	6503	DMKN	SO:0001587	stop_gained	0			-	HGNC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.539C>A	19.37:g.36003580G>T	ENSP00000342012:p.Ser180*	Somatic	0	33	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Nonsense_Mutation	SNP							NULL	p.S180*	ENST00000339686.3	37	c.539	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653939	0.67472	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	.	.	.	4.05	4.05	0.47172	.	0.306902	0.18091	N	0.151990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1303	12.0386	0.53440	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000342012:S180X	S	-	2	0	DMKN	40695420	0.009000	0.17119	0.009000	0.14445	0.012000	0.07955	1.789000	0.38724	2.536000	0.85505	0.655000	0.94253	TCA	-	NULL		0.602	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	protein_coding	OTTHUMT00000109461.2	G	NM_033317	-		36003580	-1	no_errors	ENST00000339686	ensembl	human	known	74_37	nonsense	SNP	0.008	T	T	36003580	G	T	36003580	4	4	101	1	0	0	0	0	0	1	0	0	4584	1294	45	3	1268	3	DMKN	19	36003580	Nonsense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		36003580	23125403	46	5906											
HIRA	7290	genome.wustl.edu	37	chr22	19363261	19363261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgggttcgatcttggaCggggtcgttaacacagaagg	14	7	2	1	rs376295771		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr22:19363261C>T	ENST00000263208.5	-	15	1924	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P	HIRA_ENST00000546308.1_Silent_p.P512P|HIRA_ENST00000541063.1_Silent_p.P512P|HIRA_ENST00000340170.4_Silent_p.P556P	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	556	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|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)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CGATCTTGGACGGGGTCGTTA	0.552																																																	0								ENSG00000100084	C		1,4405	2.1+/-5.4	0,1,2202	159	123	135		1668	-3.1	1	22		135	0,8600		0,0,4300	no	coding-synonymous	HIRA	NM_003325.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		556/1018	19363261	1,13005	2203	4300	6503	HIRA	SO:0001819	synonymous_variant	0			-	HGNC	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1668G>A	22.37:g.19363261C>T		Somatic	0	53	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q05BU9|Q8IXN2	Silent	SNP							pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P556	ENST00000263208.5	37	c.1668	CCDS13759.1	22																																																																																			-	NULL		0.552	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	protein_coding	OTTHUMT00000316488.2	C	NM_003325	-		19363261	-1	no_errors	ENST00000263208	ensembl	human	known	74_37	silent	SNP	0.869	T	T	19363261	C	T	19363261	2	4	101	1	0	0	0	0	0	0	0	1	7122	523	19	1		1	HIRA	22	19363261	Silent	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09		19363261	31941305	47	5907											
NR0B1	190	genome.wustl.edu	37	chrX	30326646	30326646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagctgctggtccagggGcagcacctggaagcagggca	15	13	0	0	rs183613764		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:30326646G>A	ENST00000378970.4	-	1	1069	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	NR0B1_ENST00000453287.1_Missense_Mutation_p.P279S|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	279	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGGTCCAGGGGCAGCACCTGG	0.637											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	8e-04	0	3775	,	,		12822	0		0	False		,,,				2504	0																0			GRCh37	CD066384	NR0B1	D	rs183613764	ENSG00000169297						16	11	12					X																	30326646		2174	4250	6424	NR0B1	SO:0001583	missense	0			GMAF=0	HGNC	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.835C>T	X.37:g.30326646G>A	ENSP00000368253:p.Pro279Ser	Somatic	0	48	0	816	0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	34	34.62	Q96F69	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.P279S	ENST00000378970.4	37	c.835	CCDS14223.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.8	4.046844	0.75846	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.96522	-4.04;-4.04	5.6	4.73	0.59995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.096374	0.64402	D	0.000001	D	0.97343	0.9131	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97704	1.0186	10	0.72032	D	0.01	-6.9654	15.5829	0.76459	0.0:0.1344:0.8656:0.0	.	279	P51843	NR0B1_HUMAN	S	279	ENSP00000368253:P279S;ENSP00000396403:P279S	ENSP00000368253:P279S	P	-	1	0	NR0B1	30236567	1.000000	0.71417	0.837000	0.33122	0.948000	0.59901	7.433000	0.80362	1.107000	0.41642	0.600000	0.82982	CCC	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.637	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	protein_coding	OTTHUMT00000056161.1	G	NM_000475	rs183613764		30326646	-1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30326646	G	A	30326646	3	1	101	1	0	0	0	0	1	0	0	0	10615	1203	42	2	585	2	NR0B1	23	30326646	Missense_Mutation	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09		30326646	124943914	48	5908											
DMD	1756	genome.wustl.edu	37	chrX	32519917	32519917	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgagctgatctgctggcatCttgcagttttctgaacttct	9	10	4	3			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:32519917C>A	ENST00000357033.4	-	19	2541	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	DMD_ENST00000378677.2_Missense_Mutation_p.D775Y	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	779					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)				CTGCTGGCATCTTGCAGTTTT	0.413																																																	0								ENSG00000198947						99	80	87					X																	32519917		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.2335G>T	X.37:g.32519917C>A	ENSP00000354923:p.Asp779Tyr	Somatic	0	35	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	4	66.67	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D779Y	ENST00000357033.4	37	c.2335	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109785	0.77096	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51817	0.69;0.69	5.35	5.35	0.76521	.	0.000000	0.35903	U	0.002919	T	0.66733	0.2819	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.77004	0.982;0.972;0.989	T	0.69617	-0.5097	10	0.72032	D	0.01	.	18.2209	0.89901	0.0:1.0:0.0:0.0	.	771;779;775	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Y	771;775;779;779;656	ENSP00000367948:D775Y;ENSP00000354923:D779Y	ENSP00000354923:D779Y	D	-	1	0	DMD	32429838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.241000	0.73720	0.544000	0.68410	GAT	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	C	NM_004006	-		32519917	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32519917	C	A	32519917	3	1	101	1	0	0	0	0	1	0	0	0	4582	913	32	3	9209	3	DMD	23	32519917	Missense_Mutation	SNP	C	TCGA-DX-A8BO-01A-11D-A417-09	2193271	32519917	122750643	49	5909											
MAGIX	79917	genome.wustl.edu	37	chrX	49022648	49022648	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccggggccctggctagtGcccagcgaggaacggctctc	14	16	1	0			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:49022648G>T	ENST00000412696.2	+	6	915	c.915G>T	c.(913-915)gtG>gtT	p.V305V	MAGIX_ENST00000425661.2_Silent_p.V229V|MAGIX_ENST00000376339.1_Silent_p.V241V|MAGIX_ENST00000376338.3_Silent_p.V246V|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	305																	CCTGGCTAGTGCCCAGCGAGG	0.706																																																	0								ENSG00000017621						4	5	4					X																	49022648		1691	3792	5483	MAGIX	SO:0001819	synonymous_variant	0			-	HGNC	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.915G>T	X.37:g.49022648G>T		Somatic	0	38	0		0.558051020704997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6XND4|A8MSX9|B7WP26|Q14C81	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V305	ENST00000412696.2	37	c.915	CCDS48106.1	X																																																																																			-	NULL		0.706	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	protein_coding	OTTHUMT00000378832.1	G	NM_024859	-		49022648	1	no_errors	ENST00000412696	ensembl	human	known	74_37	silent	SNP	0.996	T	T	49022648	G	T	49022648	2	4	101	1	0	0	0	0	0	0	0	1	9195	1306	46	3		3	MAGIX	23	49022648	Silent	SNP	G	TCGA-DX-A8BO-01A-11D-A417-09	16502731	49022648	106247912	50	5910											
CHD5	26038	genome.wustl.edu	37	chr1	6204083	6204083	+	Splice_Site	SNP	C	C	T													agccggatccctgcgacccaCctgtggccccagtaggcctg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:6204083C>T	ENST00000262450.3	-	12	2034		c.e12+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGCGACCCACCTGTGGCCCC	0.617																																																	0								ENSG00000116254						146	130	136					1																	6204083		2203	4300	6503	CHD5	SO:0001630	splice_region_variant	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1934+1G>A	1.37:g.6204083C>T		Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP							-	e12+1	ENST00000262450.3	37	c.1934+1	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816642	0.70912	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3289	0.87257	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6126670	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.450000	0.80656	2.392000	0.81423	0.462000	0.41574	.	-	-		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	C	NM_015557	-	Intron	6204083	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	6204083	C	T	6204083	5	4	102	1	0	0	0	0	0	0	1	0	3330	521	18	2	4049	2	CHD5	1	6204083	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		6204083	243046538	1	5911	66	2									
CHD5	26038	genome.wustl.edu	37	chr1	6204084	6204084	+	Splice_Site	SNP	C	C	T													gccggatccctgcgacccacCtgtggccccagtaggcctgc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:6204084C>T	ENST00000262450.3	-	12	2033	c.1934G>A	c.(1933-1935)aGg>aAg	p.R645K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCGACCCACCTGTGGCCCCA	0.617																																																	0								ENSG00000116254						146	131	136					1																	6204084		2203	4300	6503	CHD5	SO:0001630	splice_region_variant	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1934+1G>A	1.37:g.6204084C>T		Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R645K	ENST00000262450.3	37	c.1934	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968088	0.74131	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91068	-2.78	4.3	4.3	0.51218	Chromo domain-like (1);Chromo domain/shadow (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	M	0.81802	2.56	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	D	0.94953	0.8101	9	.	.	.	-47.8203	17.3289	0.87257	0.0:1.0:0.0:0.0	.	645	Q8TDI0	CHD5_HUMAN	K	645;161;53;53	ENSP00000262450:R645K	.	R	-	2	0	CHD5	6126671	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.450000	0.80656	2.392000	0.81423	0.462000	0.41574	AGG	-	superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	C	NM_015557	-	Missense_Mutation	6204084	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6204084	C	T	6204084	5	4	102	1	0	0	0	0	0	0	1	0	3330	695	24	2	4050	2	CHD5	1	6204084	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	6204084	243046537	2	5912	66	2									
TMEM201	199953	genome.wustl.edu	37	chr1	9669901	9669901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctctctgtctccagactCcggctatctgttcagcggta	8	14	5	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:9669901C>T	ENST00000340381.6	+	8	1406	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	TMEM201_ENST00000377376.4_Intron	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	466	Ser-rich.				fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCCAGACTCCGGCTATCTG	0.587																																																	0								ENSG00000188807						37	36	36					1																	9669901		692	1591	2283	TMEM201	SO:0001583	missense	0			-	HGNC		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1397C>T	1.37:g.9669901C>T	ENSP00000344503:p.Ser466Phe	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	B9EH90|Q5SNT3	Missense_Mutation	SNP							pfam_DUF2448,pfam_Ima1_N	p.S466F	ENST00000340381.6	37	c.1397	CCDS44055.2	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164288	0.78339	.	.	ENSG00000188807	ENST00000340381	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.36672	1.1	0.80722	D	1	.	.	.	.	.	.	T	0.64833	-0.6314	7	0.66056	D	0.02	-17.8115	17.5924	0.88000	0.0:1.0:0.0:0.0	.	.	.	.	F	466	.	ENSP00000344503:S466F	S	+	2	0	TMEM201	9592488	1.000000	0.71417	0.958000	0.39756	0.619000	0.37552	6.151000	0.71806	2.595000	0.87683	0.655000	0.94253	TCC	-	NULL		0.587	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	protein_coding	OTTHUMT00000127672.1	C	NM_001010866	-		9669901	1	no_errors	ENST00000340381	ensembl	human	known	74_37	missense	SNP	0.998	T	T	9669901	C	T	9669901	3	4	102	1	0	0	0	0	1	0	0	0	16133	855	30	2	1446	2	TMEM201	1	9669901	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3465817	9669901	239580720	3	5913											
PEX14	5195	genome.wustl.edu	37	chr1	10689963	10689963	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagagggaggaccgccgGggcggggatgggcagatcaa	21	8	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:10689963G>T	ENST00000356607.4	+	9	1133	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	PEX14_ENST00000538836.1_Silent_p.R287R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	351					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGACCGCCGGGGCGGGGATG	0.667																																																	0								ENSG00000142655						155	166	162					1																	10689963		2203	4300	6503	PEX14	SO:0001819	synonymous_variant	0			-	HGNC	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1053G>T	1.37:g.10689963G>T		Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP							pfam_Pex14_N	p.R351	ENST00000356607.4	37	c.1053	CCDS30582.1	1																																																																																			-	NULL		0.667	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	protein_coding	OTTHUMT00000005414.1	G		-		10689963	1	no_errors	ENST00000356607	ensembl	human	known	74_37	silent	SNP	1.000	T	T	10689963	G	T	10689963	2	4	102	1	0	0	0	0	0	0	0	1	11744	1219	43	3		3	PEX14	1	10689963	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1020062	10689963	238560658	4	5914											
C1orf127	148345	genome.wustl.edu	37	chr1	11008840	11008840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccactctggggagaatgGaggcagatgtctggcctctt	14	10	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:11008840G>A	ENST00000377008.4	-	11	1297	c.851C>T	c.(850-852)tCc>tTc	p.S284F	C1orf127_ENST00000377004.4_Missense_Mutation_p.S451F			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	284	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGGGAGAATGGAGGCAGATGT	0.597																																																	0								ENSG00000175262						51	60	57					1																	11008840		2202	4300	6502	C1orf127	SO:0001583	missense	0			-	HGNC	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.851C>T	1.37:g.11008840G>A	ENSP00000366207:p.Ser284Phe	Somatic	0	207	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	70	38.05	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP							superfamily_DNA-bd_dom_put	p.S451F	ENST00000377008.4	37	c.1352		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420699|2.420699	0.42918|0.42918	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.33865	.|1.39;1.39	4.64|4.64	1.37|1.37	0.22104|0.22104	.|.	.|1.206010	.|0.06116	.|N	.|0.668082	T|T	0.21550|0.21550	0.0519|0.0519	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.27656	.|0.184;0.184;0.184	.|B;B;B	.|0.30179	.|0.112;0.112;0.112	T|T	0.27331|0.27331	-1.0077|-1.0077	5|10	.|0.09843	.|T	.|0.71	-2.695|-2.695	5.0344|5.0344	0.14426|0.14426	0.2094:0.1675:0.6231:0.0|0.2094:0.1675:0.6231:0.0	.|.	.|302;276;284	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	S|F	286;403|451;284	.|ENSP00000366203:S451F;ENSP00000366207:S284F	.|ENSP00000366203:S451F	P|S	-|-	1|2	0|0	C1orf127|C1orf127	10931427|10931427	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	0.005000|0.005000	0.13129|0.13129	0.055000|0.055000	0.16094|0.16094	0.491000|0.491000	0.48974|0.48974	CCA|TCC	-	NULL		0.597	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	protein_coding		G	NM_173507	-		11008840	-1	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	SNP	0.000	A	A	11008840	G	A	11008840	3	1	102	1	0	0	0	0	1	0	0	0	1996	1174	41	2	1123	2	C1orf127	1	11008840	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	318877	11008840	238241781	5	5915											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12888398	12888398	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagtgcatcaagcccatcGagcacagcttggaaggcctc	11	13	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:12888398G>A	ENST00000535591.1	-	2	321	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	42					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						CAAGCCCATCGAGCACAGCTT	0.627																																																	0								ENSG00000204513																																			PRAMEF11	SO:0001819	synonymous_variant	0			-	HGNC	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.126C>T	1.37:g.12888398G>A		Somatic	0	73	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61		Silent	SNP							NULL	p.L42	ENST00000535591.1	37	c.126	CCDS53268.1	1																																																																																			-	NULL		0.627	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	protein_coding		G	XM_496341	-		12888398	-1	no_errors	ENST00000535591	ensembl	human	known	74_37	silent	SNP	0.005	A	A	12888398	G	A	12888398	2	1	102	1	0	0	0	0	0	0	0	1	12432	1045	37	1		1	PRAMEF11	1	12888398	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1879558	12888398	236362223	6	5916											
PRAMEF10	343071	genome.wustl.edu	37	chr1	12954686	12954686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgggtatatcctttcCaatagatttctgaaacttga	7	8	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:12954686C>T	ENST00000235347.4	-	3	676	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	199					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(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	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)		ATATCCTTTCCAATAGATTTC	0.448																																																	0								ENSG00000187545						1	1	1					1																	12954686		323	667	990	PRAMEF10	SO:0001819	synonymous_variant	0			-	HGNC	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.597G>A	1.37:g.12954686C>T		Somatic	1	130	0.76		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	74	28.85	Q2M1V2	Silent	SNP							NULL	p.L199	ENST00000235347.4	37	c.597	CCDS41255.1	1																																																																																			-	NULL		0.448	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	protein_coding	OTTHUMT00000005512.2	C	XM_496342	-		12954686	-1	no_errors	ENST00000235347	ensembl	human	known	74_37	silent	SNP	0.000	T	T	12954686	C	T	12954686	2	4	102	1	0	0	0	0	0	0	0	1	12431	593	21	2		2	PRAMEF10	1	12954686	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	66288	12954686	236295935	7	5917											
PADI3	51702	genome.wustl.edu	37	chr1	17607195	17607195	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactggaaccgtgaggtgctGaagcgggagctgggcctggc	19	9	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:17607195G>T	ENST00000375460.3	+	15	1705	c.1665G>T	c.(1663-1665)ctG>ctT	p.L555L	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	555					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGAGGTGCTGAAGCGGGAGC	0.587																																																	0								ENSG00000142619						101	99	100					1																	17607195		2203	4300	6503	PADI3	SO:0001819	synonymous_variant	0			-	HGNC	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1665G>T	1.37:g.17607195G>T		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	Q58EY7|Q70SX5	Silent	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L555	ENST00000375460.3	37	c.1665	CCDS179.1	1																																																																																			-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.587	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	protein_coding	OTTHUMT00000006805.1	G		-		17607195	1	no_errors	ENST00000375460	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17607195	G	T	17607195	2	4	102	1	0	0	0	0	0	0	0	1	11381	1277	45	3		3	PADI3	1	17607195	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4652509	17607195	231643426	8	5918											
CELA3B	23436	genome.wustl.edu	37	chr1	22310715	22310715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagacaagctgcaggaggCcctgctgccggtggtggact	15	13	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:22310715C>T	ENST00000337107.6	+	6	552	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	178	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCAGGAGGCCCTGCTGCCG	0.632																																																	0								ENSG00000219073						73	70	71					1																	22310715		2203	4300	6503	CELA3B	SO:0001583	missense	0			-	HGNC	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"proteinase E", "elastase 1", "cholesterol-binding pancreatic protease", "pancreatic endopeptidase E"		"elastase 3B, pancreatic"	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.533C>T	1.37:g.22310715C>T	ENSP00000338369:p.Ala178Val	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.A178V	ENST00000337107.6	37	c.533	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759581	0.69763	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	T;T	0.15834	2.39;2.39	4.53	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058802	0.64402	D	0.000003	T	0.21509	0.0518	N	0.16833	0.445	0.52501	D	0.999957	P	0.48834	0.916	P	0.59221	0.854	T	0.03077	-1.1075	10	0.59425	D	0.04	-32.6796	12.4369	0.55604	0.0:0.8291:0.1709:0.0	.	178	P08861	CEL3B_HUMAN	V	178;81	ENSP00000338369:A178V;ENSP00000383135:A81V	ENSP00000338369:A178V	A	+	2	0	CELA3B	22183302	1.000000	0.71417	0.969000	0.41365	0.306000	0.27790	5.754000	0.68743	0.988000	0.38734	0.650000	0.86243	GCC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.632	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	protein_coding	OTTHUMT00000007797.1	C	NM_007352	-		22310715	1	no_errors	ENST00000337107	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22310715	C	T	22310715	3	4	102	1	0	0	0	0	1	0	0	0	3216	739	26	2	555	2	CELA3B	1	22310715	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4703520	22310715	226939906	9	5919											
EPHA8	2046	genome.wustl.edu	37	chr1	22915715	22915715	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaggtaggcggagaaactCcgtcccgcagcgtcctggtc	15	13	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:22915715C>T	ENST00000166244.3	+	5	1387				EPHA8_ENST00000538803.1_Missense_Mutation_p.S444F|EPHA8_ENST00000374644.4_Missense_Mutation_p.S444F	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						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)			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)		CGGAGAAACTCCGTCCCGCAG	0.667																																																	0								ENSG00000070886						36	36	36					1																	22915715		2203	4300	6503	EPHA8	SO:0001627	intron_variant	0			-	HGNC	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.1315+16C>T	1.37:g.22915715C>T		Somatic	0	134	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	55	36.05	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP							pfam_Ephrin_rcpt_lig-bd_dom,pfam_Fibronectin_type3,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S444F	ENST00000166244.3	37	c.1331	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194618	0.38806	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01295	5.04;5.04	4.52	3.6	0.41247	.	.	.	.	.	T	0.01287	0.0042	.	.	.	0.09310	N	0.999997	B	0.28933	0.228	B	0.27715	0.082	T	0.50676	-0.8800	7	.	.	.	.	10.6559	0.45675	0.0:0.9044:0.0:0.0956	.	444	P29322-2	.	F	444	ENSP00000363775:S444F;ENSP00000440274:S444F	.	S	+	2	0	EPHA8	22788302	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.184000	0.09698	1.252000	0.44001	0.436000	0.28706	TCC	-	NULL		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	C	NM_020526	-		22915715	1	no_errors	ENST00000374644	ensembl	human	known	74_37	missense	SNP	0.294	T	T	22915715	C	T	22915715	1	4	102	0	1	0	0	0	0	0	0	0	5175	855	30	2		2	EPHA8	1	22915715	Intron	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	605000	22915715	226334906	10	5920											
ZNF683	257101	genome.wustl.edu	37	chr1	26694992	26694992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccaggctgggggacaggGagccccctgtacctcccagg	15	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:26694992G>A	ENST00000436292.1	-	2	191	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF683_ENST00000349618.3_Missense_Mutation_p.S24F|ZNF683_ENST00000403843.1_Missense_Mutation_p.S24F|ZNF683_ENST00000374204.1_Missense_Mutation_p.S24F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	24					natural killer cell differentiation (GO:0001779)|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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGGACAGGGAGCCCCCTGT	0.547																																																	0								ENSG00000176083						101	99	100					1																	26694992		2203	4300	6503	ZNF683	SO:0001583	missense	0			-	HGNC	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.71C>T	1.37:g.26694992G>A	ENSP00000388792:p.Ser24Phe	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S24F	ENST00000436292.1	37	c.71		1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341884	0.61073	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000374203;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000453132;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T;T	0.46063	2.38;2.38;2.29;2.29;1.46;1.47;1.1;0.88;1.06;1.08	4.97	4.97	0.65823	.	0.000000	0.40469	N	0.001086	T	0.50854	0.1640	L	0.27053	0.805	0.19575	N	0.999969	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	T	0.45659	-0.9246	10	0.87932	D	0	-17.8519	14.0719	0.64865	0.0:0.0:1.0:0.0	.	24;24	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	F	24;24;24;24;24;32;24;24;24;32;24	ENSP00000384782:S24F;ENSP00000388792:S24F;ENSP00000363320:S24F;ENSP00000344095:S24F;ENSP00000411289:S32F;ENSP00000411290:S24F;ENSP00000412881:S24F;ENSP00000406734:S24F;ENSP00000391584:S32F;ENSP00000401961:S24F	ENSP00000344095:S24F	S	-	2	0	ZNF683	26567579	0.517000	0.26226	0.077000	0.20336	0.011000	0.07611	2.332000	0.43903	2.470000	0.83445	0.563000	0.77884	TCC	-	NULL		0.547	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	protein_coding	OTTHUMT00000009794.2	G	NM_173574	-		26694992	-1	no_errors	ENST00000403843	ensembl	human	known	74_37	missense	SNP	0.294	A	A	26694992	G	A	26694992	3	1	102	1	0	0	0	0	1	0	0	0	18097	1174	41	2	1463	2	ZNF683	1	26694992	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3779277	26694992	222555629	11	5921											
ARID1A	8289	genome.wustl.edu	37	chr1	27099425	27099425	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatacctctgacatgaTggggcgcatgtcctatgagc	11	9	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:27099425T>G	ENST00000324856.7	+	14	4033	c.3662T>G	c.(3661-3663)aTg>aGg	p.M1221R	ARID1A_ENST00000457599.2_Missense_Mutation_p.M1221R|ARID1A_ENST00000374152.2_Missense_Mutation_p.M838R|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1221					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)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.M1221T(1)	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)		TCTGACATGATGGGGCGCATG	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Substitution - Missense(1)	ovary(2)|lung(1)						ENSG00000117713						100	103	102					1																	27099425		2203	4300	6503	ARID1A	SO:0001583	missense	0			-	HGNC	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.3662T>G	1.37:g.27099425T>G	ENSP00000320485:p.Met1221Arg	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M1221R	ENST00000324856.7	37	c.3662	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.02|12.02	1.812036|1.812036	0.32053|0.32053	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.02682	.|4.42;4.2;4.24	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.113630	.|0.85682	.|D	.|0.000000	T|T	0.04770|0.04770	0.0129|0.0129	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.44195	.|0.804;0.828;0.458;0.495	.|B;B;B;B	.|0.36186	.|0.195;0.219;0.09;0.041	T|T	0.41963|0.41963	-0.9479|-0.9479	5|10	.|0.46703	.|T	.|0.11	-7.8577|-7.8577	15.4919|15.4919	0.75611|0.75611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|838;1221;1221;874	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	E|R	117|1221;1221;838	.|ENSP00000320485:M1221R;ENSP00000387636:M1221R;ENSP00000363267:M838R	.|ENSP00000320485:M1221R	D|M	+|+	3|2	2|0	ARID1A|ARID1A	26972012|26972012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.591000|3.591000	0.53986|0.53986	2.253000|2.253000	0.74438|0.74438	0.533000|0.533000	0.62120|0.62120	GAT|ATG	-	NULL		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	T	NM_139135	-		27099425	1	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	SNP	1.000	G	G	27099425	T	G	27099425	3	3	102	1	0	0	0	0	1	0	0	0	913	1464	51	5	3716	5	ARID1A	1	27099425	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	404433	27099425	222151196	12	5922											
SMPDL3B	27293	genome.wustl.edu	37	chr1	28282233	28282233	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcccccggggttctttgaGaagacgcaaaacaaggcatg	13	10	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:28282233G>T	ENST00000373894.3	+	6	920	c.729G>T	c.(727-729)gaG>gaT	p.E243D	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.E243D|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.E195D|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	243					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGTTCTTTGAGAAGACGCAAA	0.552																																																	0								ENSG00000130768						85	83	84					1																	28282233		2203	4300	6503	SMPDL3B	SO:0001583	missense	0			-	HGNC	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.729G>T	1.37:g.28282233G>T	ENSP00000363001:p.Glu243Asp	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP							pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.E243D	ENST00000373894.3	37	c.729	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173317	0.38413	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.89617	-2.54;-2.54;-2.54	5.34	4.43	0.53597	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.89114	0.6623	L	0.37630	1.12	0.46437	D	0.999049	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.84770	0.0767	10	0.13108	T	0.6	-37.3008	8.8236	0.35041	0.2279:0.0:0.7721:0.0	.	195;243;243	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	D	243;243;195;195	ENSP00000363001:E243D;ENSP00000362995:E243D;ENSP00000449450:E195D	ENSP00000362995:E243D	E	+	3	2	SMPDL3B	28154820	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	3.863000	0.56016	1.241000	0.43820	-0.448000	0.05591	GAG	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd		0.552	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	protein_coding	OTTHUMT00000011170.1	G	NM_014474	-		28282233	1	no_errors	ENST00000373894	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28282233	G	T	28282233	3	4	102	1	0	0	0	0	1	0	0	0	14817	933	33	3	751	3	SMPDL3B	1	28282233	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1182808	28282233	220968388	13	5923											
DLGAP3	58512	genome.wustl.edu	37	chr1	35370210	35370210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcggaactccaccagcCtgtggacttggcctggtgcc	12	14	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:35370210C>T	ENST00000373347.1	-	3	1043	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G259S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	259					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			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)				CTCCACCAGCCTGTGGACTTG	0.657																																																	0								ENSG00000116544						126	115	119					1																	35370210		2203	4300	6503	DLGAP3	SO:0001583	missense	0			-	HGNC	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.775G>A	1.37:g.35370210C>T	ENSP00000362444:p.Gly259Ser	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q5TDD5|Q9H3X7	Missense_Mutation	SNP							pfam_GKAP	p.G259S	ENST00000373347.1	37	c.775	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889477	0.72524	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.49139	0.79;0.79	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58434	-0.7637	10	0.36615	T	0.2	-17.477	18.7023	0.91625	0.0:1.0:0.0:0.0	.	259	O95886	DLGP3_HUMAN	S	259	ENSP00000362444:G259S;ENSP00000235180:G259S	ENSP00000235180:G259S	G	-	1	0	DLGAP3	35142797	1.000000	0.71417	0.965000	0.40720	0.714000	0.41099	7.185000	0.77714	2.492000	0.84095	0.655000	0.94253	GGC	-	NULL		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	protein_coding	OTTHUMT00000011554.1	C	NM_021234	-		35370210	-1	no_errors	ENST00000235180	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35370210	C	T	35370210	3	4	102	1	0	0	0	0	1	0	0	0	4563	681	24	2	2204	2	DLGAP3	1	35370210	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	7087977	35370210	213880411	14	5924											
ZMYM4	9202	genome.wustl.edu	37	chr1	35857822	35857822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttaatcagcaaatatttCcatggttcaagctgcttcag	6	8	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:35857822C>T	ENST00000314607.6	+	16	2677	c.2597C>T	c.(2596-2598)tCc>tTc	p.S866F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S777F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	866					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAAATATTTCCATGGTTCAA	0.388																																																	0								ENSG00000146463						59	61	60					1																	35857822		2203	4300	6503	ZMYM4	SO:0001583	missense	0			-	HGNC	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2597C>T	1.37:g.35857822C>T	ENSP00000322915:p.Ser866Phe	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP							pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.S866F	ENST00000314607.6	37	c.2597	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329091	0.60743	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25085	1.82;1.84	4.98	4.98	0.66077	.	0.488921	0.21054	N	0.080941	T	0.32793	0.0841	L	0.58810	1.83	0.44424	D	0.997349	P	0.43973	0.823	B	0.42062	0.374	T	0.22871	-1.0204	10	0.66056	D	0.02	-7.3041	18.5957	0.91228	0.0:1.0:0.0:0.0	.	866	Q5VZL5	ZMYM4_HUMAN	F	866;777	ENSP00000322915:S866F;ENSP00000362394:S777F	ENSP00000322915:S866F	S	+	2	0	ZMYM4	35630409	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.985000	0.49362	2.465000	0.83290	0.591000	0.81541	TCC	-	NULL		0.388	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	protein_coding	OTTHUMT00000012207.3	C	NM_005095	-		35857822	1	no_errors	ENST00000314607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35857822	C	T	35857822	3	4	102	1	0	0	0	0	1	0	0	0	17709	855	30	2	2659	2	ZMYM4	1	35857822	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	487612	35857822	213392799	15	5925											
POU3F1	5453	genome.wustl.edu	37	chr1	38511170	38511170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccccgccaggccctagctCcccaggcgcgtatacatcgt	10	19	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:38511170C>T	ENST00000373012.2	-	1	1280	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	416					axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCCCTAGCTCCCCAGGCGCG	0.756																																																	0								ENSG00000185668						7	8	8					1																	38511170		2165	4227	6392	POU3F1	SO:0001583	missense	0			-	HGNC	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"Homeoboxes / POU class"	9214	protein-coding gene	gene with protein product		602479	"POU domain class 3, transcription factor 1"	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.1246G>A	1.37:g.38511170C>T	ENSP00000362103:p.Glu416Lys	Somatic	0	17	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q5TAG2	Missense_Mutation	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.E416K	ENST00000373012.2	37	c.1246	CCDS30679.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832478	0.50845	.	.	ENSG00000185668	ENST00000373012	D	0.84070	-1.8	3.75	3.75	0.43078	.	.	.	.	.	T	0.69278	0.3093	N	0.08118	0	0.58432	D	0.999992	B	0.29531	0.247	B	0.30316	0.114	T	0.72421	-0.4299	9	0.66056	D	0.02	.	14.5526	0.68078	0.0:1.0:0.0:0.0	.	416	Q03052	PO3F1_HUMAN	K	416	ENSP00000362103:E416K	ENSP00000362103:E416K	E	-	1	0	POU3F1	38283757	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.429000	0.52800	1.955000	0.56771	0.456000	0.33151	GAG	-	pirsf_Transcription_factor_POU		0.756	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F1	protein_coding	OTTHUMT00000001213.1	C	NM_002699	-		38511170	-1	no_errors	ENST00000373012	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38511170	C	T	38511170	3	4	102	1	0	0	0	0	1	0	0	0	12276	864	30	2	113	2	POU3F1	1	38511170	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2653348	38511170	210739451	16	5926											
MACF1	23499	genome.wustl.edu	37	chr1	39905066	39905066	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagaagttctggtatgacaTggcagctctcctgaccacca	10	11	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:39905066T>A	ENST00000372915.3	+	71	18125	c.18038T>A	c.(18037-18039)aTg>aAg	p.M6013K	MACF1_ENST00000564288.1_Missense_Mutation_p.M6114K|MACF1_ENST00000361689.2_Missense_Mutation_p.M4055K|MACF1_ENST00000539005.1_Missense_Mutation_p.M3925K|MACF1_ENST00000317713.7_Missense_Mutation_p.M4055K|MACF1_ENST00000545844.1_Missense_Mutation_p.M4055K|MACF1_ENST00000289893.4_Missense_Mutation_p.M4557K|MACF1_ENST00000567887.1_Missense_Mutation_p.M6151K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6013					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTATGACATGGCAGCTCTC	0.448																																																	0								ENSG00000127603						85	80	82					1																	39905066		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18038T>A	1.37:g.39905066T>A	ENSP00000362006:p.Met6013Lys	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.M4055K	ENST00000372915.3	37	c.12164		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.423751|4.423751	0.83667|0.83667	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.51574	.|0.7;0.7;0.7;0.7;0.7;0.7	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;P	.|0.62365	.|0.991;0.916	.|D;P	.|0.63381	.|0.914;0.693	T|T	0.61322|0.61322	-0.7086|-0.7086	5|10	.|0.66056	.|D	.|0.02	.|.	16.086|16.086	0.81049|0.81049	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|6013;4055	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	Q|K	3058|4055;6013;4055;4055;3925;4557	.|ENSP00000439537:M4055K;ENSP00000362006:M6013K;ENSP00000354573:M4055K;ENSP00000313438:M4055K;ENSP00000444364:M3925K;ENSP00000289893:M4557K	.|ENSP00000289893:M4557K	H|M	+|+	3|2	2|0	MACF1|MACF1	39677653|39677653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.098000|5.098000	0.64548|0.64548	2.207000|2.207000	0.71202|0.71202	0.528000|0.528000	0.53228|0.53228	CAT|ATG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	T	NM_033044	-		39905066	1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39905066	T	A	39905066	3	1	102	1	0	0	0	0	1	0	0	0	9146	1464	51	5	18585	5	MACF1	1	39905066	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1393896	39905066	209345555	17	5927											
MACF1	23499	genome.wustl.edu	37	chr1	39908410	39908410	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaaaatgatgttttggctCatcaagccacagtggaaaca	8	7	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:39908410C>T	ENST00000372915.3	+	77	18913	c.18826C>T	c.(18826-18828)Cat>Tat	p.H6276Y	MACF1_ENST00000564288.1_Missense_Mutation_p.H6377Y|MACF1_ENST00000361689.2_Missense_Mutation_p.H4318Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H4188Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H4318Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H4318Y|MACF1_ENST00000289893.4_Missense_Mutation_p.H4820Y|MACF1_ENST00000567887.1_Missense_Mutation_p.H6414Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6276					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTTTGGCTCATCAAGCCAC	0.393																																																	0								ENSG00000127603						50	49	49					1																	39908410		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18826C>T	1.37:g.39908410C>T	ENSP00000362006:p.His6276Tyr	Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.H4318Y	ENST00000372915.3	37	c.12952		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.820425|4.820425	0.90873|0.90873	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.53423|.	1.26;0.62;1.26;1.26;1.26;0.62|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	D|D	0.83644|0.83644	0.5299|0.5299	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.97110|.	0.995;1.0|.	D|D	0.84277|0.84277	0.0492|0.0492	10|5	0.87932|.	D|.	0|.	.|.	20.0991|20.0991	0.97865|0.97865	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6276;4318|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	Y|L	4318;6276;4318;4318;4188;4820|3321	ENSP00000439537:H4318Y;ENSP00000362006:H6276Y;ENSP00000354573:H4318Y;ENSP00000313438:H4318Y;ENSP00000444364:H4188Y;ENSP00000289893:H4820Y|.	ENSP00000289893:H4820Y|.	H|S	+|+	1|2	0|0	MACF1|MACF1	39680997|39680997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CAT|TCA	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	C	NM_033044	-		39908410	1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39908410	C	T	39908410	3	4	102	1	0	0	0	0	1	0	0	0	9146	826	29	2	19397	2	MACF1	1	39908410	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3344	39908410	209342211	18	5928											
MYCL1	4610	genome.wustl.edu	37	chr1	40366681	40366681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcggacagggggcggcGggcgccgggttgccggcttc	20	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:40366681G>A	ENST00000372816.2	-	1	873	c.426C>T	c.(424-426)ccC>ccT	p.P142P	MYCL_ENST00000429311.1_Silent_p.P142P|MYCL_ENST00000372815.1_Silent_p.P172P|RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_Silent_p.P172P			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	142						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGGGGCGGCGGGCGCCGGGT	0.751																																																	0								ENSG00000116990						3	4	4					1																	40366681		1710	3639	5349	MYCL	SO:0001819	synonymous_variant	0			-	HGNC		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.426C>T	1.37:g.40366681G>A		Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Silent	SNP							pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.P142	ENST00000372816.2	37	c.426	CCDS30682.1	1																																																																																			-	NULL		0.751	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL	protein_coding	OTTHUMT00000277004.1	G	NM_001033082	-		40366681	-1	no_errors	ENST00000372816	ensembl	human	known	74_37	silent	SNP	1.000	A	A	40366681	G	A	40366681	2	1	102	1	0	0	0	0	0	0	0	1	10022	1103	39	1		1	MYCL1	1	40366681	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	458271	40366681	208883940	19	5929											
ZNF643	65243	genome.wustl.edu	37	chr1	40928208	40928208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaagcagcatgtattcCaccttgggaagaatctccaa	9	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:40928208C>T	ENST00000411995.2	+	6	927	c.552C>T	c.(550-552)tcC>tcT	p.S184S	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Silent_p.S82S	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	184					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)										GCATGTATTCCACCTTGGGAA	0.403																																																	0								ENSG00000187801						140	150	146					1																	40928208		2203	4300	6503	ZFP69B	SO:0001819	synonymous_variant	0			-	HGNC	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.552C>T	1.37:g.40928208C>T		Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q5QPL4	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S184	ENST00000411995.2	37	c.552	CCDS452.2	1																																																																																			-	NULL		0.403	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	protein_coding	OTTHUMT00000019078.2	C	NM_023070	-		40928208	1	no_errors	ENST00000411995	ensembl	human	known	74_37	silent	SNP	0.010	T	T	40928208	C	T	40928208	2	4	102	1	0	0	0	0	0	0	0	1	18066	581	21	2		2	ZNF643	1	40928208	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	561527	40928208	208322413	20	5930											
C1orf84	23334	genome.wustl.edu	37	chr1	43870167	43870167	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcatcgacttccagcctgaGatctatgtaactatccaggc	8	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:43870167G>A	ENST00000562955.1	+	4	444	c.444G>A	c.(442-444)gaG>gaA	p.E148E	SZT2_ENST00000372450.4_Silent_p.E146E|SZT2_ENST00000310739.4_Silent_p.E148E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	148					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCAGCCTGAGATCTATGTAA	0.507																																																	0								ENSG00000198198						131	113	119					1																	43870167		2203	4300	6503	SZT2	SO:0001819	synonymous_variant	0			-	HGNC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.444G>A	1.37:g.43870167G>A		Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP							NULL	p.E148	ENST00000562955.1	37	c.444	CCDS30694.2	1																																																																																			-	NULL		0.507	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	protein_coding	OTTHUMT00000019517.3	G	NM_015284	-		43870167	1	no_errors	ENST00000562955	ensembl	human	known	74_37	silent	SNP	1.000	A	A	43870167	G	A	43870167	2	1	102	1	0	0	0	0	0	0	0	1	2063	933	33	2		2	C1orf84	1	43870167	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2941959	43870167	205380454	21	5931											
IPO13	9670	genome.wustl.edu	37	chr1	44432656	44432656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgggaaaggtggtacagGaagacggtcgtatgctgctc	16	7	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:44432656G>A	ENST00000372343.3	+	18	3240	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	IPO13_ENST00000372339.3_Missense_Mutation_p.E78K	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	860					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGTGGTACAGGAAGACGGTCG	0.607																																																	0								ENSG00000117408						98	98	98					1																	44432656		2203	4300	6503	IPO13	SO:0001583	missense	0			-	HGNC	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2578G>A	1.37:g.44432656G>A	ENSP00000361418:p.Glu860Lys	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP							pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E860K	ENST00000372343.3	37	c.2578	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376817	0.42105	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.49	4.49	0.54785	.	0.213163	0.41001	D	0.000965	T	0.42426	0.1202	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.22909	0.077;0.001	B;B	0.21546	0.035;0.003	T	0.26643	-1.0097	9	0.11794	T	0.64	-14.9977	12.7862	0.57507	0.0836:0.0:0.9164:0.0	.	78;860	Q5T4X2;O94829	.;IPO13_HUMAN	K	860;78	.	ENSP00000361414:E78K	E	+	1	0	IPO13	44205243	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.516000	0.81772	2.036000	0.60181	0.410000	0.27636	GAA	-	NULL		0.607	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	protein_coding	OTTHUMT00000022846.1	G	NM_014652	-		44432656	1	no_errors	ENST00000372343	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44432656	G	A	44432656	3	1	102	1	0	0	0	0	1	0	0	0	7796	1175	41	2	2648	2	IPO13	1	44432656	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	562489	44432656	204817965	22	5932											
MAST2	23139	genome.wustl.edu	37	chr1	46500316	46500316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacggtctggcacccaaGctccaacgccagtaccgctc	8	19	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:46500316G>A	ENST00000361297.2	+	29	4258	c.3975G>A	c.(3973-3975)aaG>aaA	p.K1325K	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGCACCCAAGCTCCAACGCC	0.662																																																	0								ENSG00000086015						79	89	85					1																	46500316		2184	4280	6464	MAST2	SO:0001819	synonymous_variant	0			-	HGNC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3975G>A	1.37:g.46500316G>A		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Silent	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.K1325	ENST00000361297.2	37	c.3975	CCDS41326.1	1																																																																																			-	NULL		0.662	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	G	NM_015112	-		46500316	1	no_errors	ENST00000361297	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46500316	G	A	46500316	2	1	102	1	0	0	0	0	0	0	0	1	9327	962	34	2		2	MAST2	1	46500316	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2067660	46500316	202750305	23	5933											
CYP4Z1	199974	genome.wustl.edu	37	chr1	47534386	47534386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttggaccctttacgatgttCttcagtgtccatgacccaga	9	11	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:47534386C>T	ENST00000334194.3	+	2	273	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	90						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTACGATGTTCTTCAGTGTCC	0.448																																																	0								ENSG00000186160						185	162	170					1																	47534386		2203	4300	6503	CYP4Z1	SO:0001819	synonymous_variant	0			-	HGNC	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.270C>T	1.37:g.47534386C>T		Somatic	0	161	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	Q5VVE4	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F90	ENST00000334194.3	37	c.270	CCDS545.1	1																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.448	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	protein_coding	OTTHUMT00000022020.1	C	NM_178134	-		47534386	1	no_errors	ENST00000334194	ensembl	human	known	74_37	silent	SNP	0.007	T	T	47534386	C	T	47534386	2	4	102	1	0	0	0	0	0	0	0	1	4196	912	32	2		2	CYP4Z1	1	47534386	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1034070	47534386	201716235	24	5934											
CYP2J2	1573	genome.wustl.edu	37	chr1	60392370	60392370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggagagtccgaggatGgaccactgcccagagggcag	16	10	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:60392370G>A	ENST00000371204.3	-	1	92	c.49C>T	c.(49-51)Cat>Tat	p.H17Y		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	17					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GTCCGAGGATGGACCACTGCC	0.662																																																	0								ENSG00000134716						21	27	25					1																	60392370		2201	4297	6498	CYP2J2	SO:0001583	missense	0			-	HGNC	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.49C>T	1.37:g.60392370G>A	ENSP00000360247:p.His17Tyr	Somatic	0	95	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	B2RD33|Q8TF13	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.H17Y	ENST00000371204.3	37	c.49	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868456	0.32977	.	.	ENSG00000134716	ENST00000371204	T	0.69175	-0.38	5.31	2.22	0.28083	.	0.554682	0.19546	N	0.111700	T	0.37404	0.1002	N	0.08118	0	0.09310	N	1	P	0.38395	0.629	B	0.33620	0.167	T	0.15723	-1.0427	10	0.25106	T	0.35	.	5.9524	0.19255	0.0888:0.0:0.5749:0.3362	.	17	P51589	CP2J2_HUMAN	Y	17	ENSP00000360247:H17Y	ENSP00000360247:H17Y	H	-	1	0	CYP2J2	60164958	0.041000	0.20044	0.003000	0.11579	0.050000	0.14768	1.650000	0.37292	0.740000	0.32651	-0.268000	0.10319	CAT	-	prints_Cyt_P450_E_grp-I_CYP2J-like		0.662	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	protein_coding	OTTHUMT00000024940.1	G	NM_000775	-		60392370	-1	no_errors	ENST00000371204	ensembl	human	known	74_37	missense	SNP	0.001	A	A	60392370	G	A	60392370	3	1	102	1	0	0	0	0	1	0	0	0	4174	1348	47	2	1495	2	CYP2J2	1	60392370	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12857984	60392370	188858251	25	5935											
SLC35D1	23169	genome.wustl.edu	37	chr1	67519562	67519562	+	Silent	SNP	G	G	A													ctcacgccgtaaaagccggcGgccagcagcttcagaaacac							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:67519562G>A	ENST00000235345.5	-	1	220	c.135C>T	c.(133-135)gcC>gcT	p.A45A	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	45					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AAAAGCCGGCGGCCAGCAGCT	0.627																																																	0								ENSG00000116704						45	47	46					1																	67519562		2203	4300	6503	SLC35D1	SO:0001819	synonymous_variant	0			-	HGNC	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.135C>T	1.37:g.67519562G>A		Somatic	0	106	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	23	61.02	A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP							pfam_Tpt_PEP_trans_dom	p.A45	ENST00000235345.5	37	c.135	CCDS636.1	1																																																																																			-	NULL		0.627	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	protein_coding	OTTHUMT00000025948.1	G	NM_015139	-		67519562	-1	no_errors	ENST00000235345	ensembl	human	known	74_37	silent	SNP	1.000	A	A	67519562	G	A	67519562	2	1	102	1	0	0	0	0	0	0	0	1	14589	1103	39	1		1	SLC35D1	1	67519562	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7127192	67519562	181731059	26	5936	67	2									
SLC35D1	23169	genome.wustl.edu	37	chr1	67519563	67519563	+	Missense_Mutation	SNP	G	G	A													tcacgccgtaaaagccggcgGccagcagcttcagaaacacg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:67519563G>A	ENST00000235345.5	-	1	219	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	45					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AAAGCCGGCGGCCAGCAGCTT	0.627																																																	0								ENSG00000116704						45	47	47					1																	67519563		2203	4300	6503	SLC35D1	SO:0001583	missense	0			-	HGNC	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.134C>T	1.37:g.67519563G>A	ENSP00000235345:p.Ala45Val	Somatic	0	105	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	23	61.67	A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP							pfam_Tpt_PEP_trans_dom	p.A45V	ENST00000235345.5	37	c.134	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519223	0.85495	.	.	ENSG00000116704	ENST00000235345	T	0.65364	-0.15	3.41	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	L	0.50993	1.605	0.80722	D	1	P	0.38167	0.621	B	0.38683	0.279	T	0.16247	-1.0409	10	0.18710	T	0.47	-5.7423	10.6353	0.45560	0.0:0.1966:0.8034:0.0	.	45	Q9NTN3	S35D1_HUMAN	V	45	ENSP00000235345:A45V	ENSP00000235345:A45V	A	-	2	0	SLC35D1	67292151	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.928000	0.70088	0.731000	0.32448	0.462000	0.41574	GCC	-	NULL		0.627	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	protein_coding	OTTHUMT00000025948.1	G	NM_015139	-		67519563	-1	no_errors	ENST00000235345	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67519563	G	A	67519563	3	1	102	1	0	0	0	0	1	0	0	0	14589	1203	42	2	981	2	SLC35D1	1	67519563	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	67519563	181731058	27	5937	67	2									
CCBL2	56267	genome.wustl.edu	37	chr1	89430581	89430581	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgctcctactgtcacaagGatttctttatttgaatcaat	5	8	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:89430581G>A	ENST00000260508.4	-	5	721	c.384C>T	c.(382-384)atC>atT	p.I128I	CCBL2_ENST00000370485.2_Silent_p.I128I|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Silent_p.I94I	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	128					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CTGTCACAAGGATTTCTTTAT	0.333																																																	0								ENSG00000137944						94	89	91					1																	89430581		2203	4297	6500	CCBL2	SO:0001819	synonymous_variant	0			-	HGNC	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.384C>T	1.37:g.89430581G>A		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	13	59.38	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Silent	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.I128	ENST00000260508.4	37	c.384	CCDS30766.1	1																																																																																			-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.333	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	protein_coding	OTTHUMT00000029300.3	G	NM_001008661	-		89430581	-1	no_errors	ENST00000260508	ensembl	human	known	74_37	silent	SNP	1.000	A	A	89430581	G	A	89430581	2	1	102	1	0	0	0	0	0	0	0	1	2735	1164	41	2		2	CCBL2	1	89430581	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	21911018	89430581	159820040	28	5938											
GBP6	163351	genome.wustl.edu	37	chr1	89834284	89834284	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctacttgatgaaccatctGgcaggacagaatcatggtaa	9	9	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:89834284G>T	ENST00000370456.4	+	2	267	c.174G>T	c.(172-174)ctG>ctT	p.L58L	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	58	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGAACCATCTGGCAGGACAGA	0.468																																																	0								ENSG00000183347						137	127	130					1																	89834284		2203	4300	6503	GBP6	SO:0001819	synonymous_variant	0			-	HGNC	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.174G>T	1.37:g.89834284G>T		Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP							pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.L58	ENST00000370456.4	37	c.174	CCDS723.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.468	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	protein_coding	OTTHUMT00000028001.1	G	NM_198460	-		89834284	1	no_errors	ENST00000370456	ensembl	human	known	74_37	silent	SNP	1.000	T	T	89834284	G	T	89834284	2	4	102	1	0	0	0	0	0	0	0	1	6280	1335	47	3		3	GBP6	1	89834284	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	403703	89834284	159416337	29	5939											
DPYD	1806	genome.wustl.edu	37	chr1	98164976	98164976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccaatcgagccaaaaagGaagcacaacttatacttgca	6	12	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:98164976G>A	ENST00000370192.3	-	6	711	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	204					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGCCAAAAAGGAAGCACAACT	0.393																																																	0								ENSG00000188641						159	157	157					1																	98164976		2203	4300	6503	DPYD	SO:0001583	missense	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.611C>T	1.37:g.98164976G>A	ENSP00000359211:p.Ser204Phe	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP							pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.S204F	ENST00000370192.3	37	c.611	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555871	0.86231	.	.	ENSG00000188641	ENST00000370192	T	0.80909	-1.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84226	0.0464	10	0.72032	D	0.01	-16.3039	19.3869	0.94560	0.0:0.0:1.0:0.0	.	204	Q12882	DPYD_HUMAN	F	204	ENSP00000359211:S204F	ENSP00000359211:S204F	S	-	2	0	DPYD	97937564	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.431000	0.97494	2.591000	0.87537	0.585000	0.79938	TCC	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase		0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	G	NM_000110	-		98164976	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98164976	G	A	98164976	3	1	102	1	0	0	0	0	1	0	0	0	4747	1174	41	2	2538	2	DPYD	1	98164976	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8330692	98164976	151085645	30	5940											
COL11A1	1301	genome.wustl.edu	37	chr1	103444272	103444272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatacgtactctttcacCtggagggccaggagggccat	11	11	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:103444272C>T	ENST00000370096.3	-	35	3058	c.2746G>A	c.(2746-2748)Ggt>Agt	p.G916S	COL11A1_ENST00000512756.1_Missense_Mutation_p.G800S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G877S|COL11A1_ENST00000358392.2_Missense_Mutation_p.G928S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	916	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTCTTTCACCTGGAGGGCCA	0.383																																																	0								ENSG00000060718						97	114	109					1																	103444272		2201	4299	6500	COL11A1	SO:0001583	missense	0			-	HGNC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2746G>A	1.37:g.103444272C>T	ENSP00000359114:p.Gly916Ser	Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G928S	ENST00000370096.3	37	c.2782	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461602	0.84317	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.35	5.35	0.76521	.	0.115973	0.64402	D	0.000016	D	0.99849	0.9930	H	0.97829	4.085	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	0.91635	0.991;0.999;0.999;0.998;0.996	D	0.96627	0.9464	10	0.87932	D	0	.	19.0619	0.93096	0.0:1.0:0.0:0.0	.	800;877;928;916;136	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	916;928;877;136;800	ENSP00000359114:G916S;ENSP00000351163:G928S;ENSP00000302551:G877S;ENSP00000426533:G800S	ENSP00000302551:G877S	G	-	1	0	COL11A1	103216860	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.343000	0.79319	2.506000	0.84524	0.655000	0.94253	GGT	-	NULL		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	C	NM_080630	-		103444272	-1	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103444272	C	T	103444272	3	4	102	1	0	0	0	0	1	0	0	0	3669	681	24	2	2806	2	COL11A1	1	103444272	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5279296	103444272	145806349	31	5941											
GSTM5	2949	genome.wustl.edu	37	chr1	110255276	110255276	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttgctcctggaatacacaGactcaagctatgtggaaaag	10	9	1	1	rs200081331		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:110255276G>A	ENST00000256593.3	+	2	131	c.73G>A	c.(73-75)Gac>Aac	p.D25N	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D25N	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	25	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGAATACACAGACTCAAGCTA	0.607																																																	0								ENSG00000134201						83	88	86					1																	110255276		2203	4300	6503	GSTM5	SO:0001583	missense	0			-	HGNC	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.73G>A	1.37:g.110255276G>A	ENSP00000256593:p.Asp25Asn	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	A8K0V8|Q6PD78	Missense_Mutation	SNP							pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.D25N	ENST00000256593.3	37	c.73	CCDS811.1	1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238864	0.58995	.	.	ENSG00000134201	ENST00000256593;ENST00000369812	T;T	0.06218	3.33;3.33	4.74	4.74	0.60224	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.237722	0.33199	N	0.005179	T	0.02970	0.0088	L	0.42581	1.335	0.29783	N	0.833803	B	0.06786	0.001	B	0.08055	0.003	T	0.22941	-1.0202	10	0.41790	T	0.15	.	14.9914	0.71390	0.0:0.0:1.0:0.0	.	25	P46439	GSTM5_HUMAN	N	25	ENSP00000256593:D25N;ENSP00000358827:D25N	ENSP00000256593:D25N	D	+	1	0	GSTM5	110056799	0.966000	0.33281	0.320000	0.25306	0.740000	0.42216	5.742000	0.68646	2.324000	0.78689	0.505000	0.49811	GAC	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.607	GSTM5-001	KNOWN	basic|CCDS	protein_coding	GSTM5	protein_coding	OTTHUMT00000032200.1	G	NM_000851	-		110255276	1	no_errors	ENST00000369812	ensembl	human	known	74_37	missense	SNP	0.955	A	A	110255276	G	A	110255276	3	1	102	1	0	0	0	0	1	0	0	0	6843	942	33	2	79	2	GSTM5	1	110255276	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6811004	110255276	138995345	32	5942											
WDR77	79084	genome.wustl.edu	37	chr1	111984657	111984657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacttacaactcagaaaGgcttgagtccagcacagcaa	7	12	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:111984657G>A	ENST00000235090.5	-	9	1065	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	WDR77_ENST00000497278.1_5'UTR|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Missense_Mutation_p.L223F	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	287					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACTCAGAAAGGCTTGAGTCC	0.507											OREG0013669	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000116455						115	99	104					1																	111984657		2203	4300	6503	WDR77	SO:0001583	missense	0			-	HGNC	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.859C>T	1.37:g.111984657G>A	ENSP00000235090:p.Leu287Phe	Somatic	0	51	0	1439	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L287F	ENST00000235090.5	37	c.859	CCDS835.1	1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576626	0.28092	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.29917	1.55;1.55	5.19	3.29	0.37713	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.168453	0.53938	N	0.000047	T	0.08492	0.0211	L	0.28458	0.855	0.38691	D	0.952759	B;B	0.16396	0.001;0.017	B;B	0.16722	0.009;0.016	T	0.09818	-1.0657	10	0.24483	T	0.36	-5.8286	8.1537	0.31156	0.3137:0.0:0.6863:0.0	.	223;287	B4DP38;Q9BQA1	.;MEP50_HUMAN	F	287;223	ENSP00000235090:L287F;ENSP00000400321:L223F	ENSP00000235090:L287F	L	-	1	0	WDR77	111786180	1.000000	0.71417	0.875000	0.34327	0.863000	0.49368	2.867000	0.48428	0.742000	0.32697	0.655000	0.94253	CTT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR77	protein_coding	OTTHUMT00000032465.1	G	NM_024102	-		111984657	-1	no_errors	ENST00000235090	ensembl	human	known	74_37	missense	SNP	0.571	A	A	111984657	G	A	111984657	3	1	102	1	0	0	0	0	1	0	0	0	17334	1000	35	2	177	2	WDR77	1	111984657	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1729381	111984657	137265964	33	5943											
ANKRD34A	284615	genome.wustl.edu	37	chr1	145474292	145474292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacagcaccagaagctcagGagtctggtcccccttcaggg	11	14	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:145474292G>A	ENST00000323397.4	+	4	2257	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	322	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAGCTCAGGAGTCTGGTCC	0.637																																																	0								ENSG00000181039						38	42	41					1																	145474292		2203	4300	6503	ANKRD34A	SO:0001583	missense	0			-	HGNC	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.964G>A	1.37:g.145474292G>A	ENSP00000314103:p.Glu322Lys	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	B3KSU3	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E322K	ENST00000323397.4	37	c.964	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941282	0.53079	.	.	ENSG00000181039	ENST00000323397	T	0.73469	-0.75	4.95	4.95	0.65309	.	0.133482	0.47093	D	0.000257	T	0.61211	0.2329	L	0.46157	1.445	0.42441	D	0.992714	P	0.45531	0.86	B	0.41332	0.354	T	0.68044	-0.5513	10	0.52906	T	0.07	-16.3514	15.7847	0.78294	0.0:0.0:1.0:0.0	.	322	Q69YU3	AN34A_HUMAN	K	322	ENSP00000314103:E322K	ENSP00000314103:E322K	E	+	1	0	ANKRD34A	144185649	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.744000	0.55112	2.578000	0.87016	0.460000	0.39030	GAG	-	NULL		0.637	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	protein_coding	OTTHUMT00000038512.1	G		-		145474292	1	no_errors	ENST00000323397	ensembl	human	known	74_37	missense	SNP	1.000	A	A	145474292	G	A	145474292	3	1	102	1	0	0	0	0	1	0	0	0	662	1175	41	2	966	2	ANKRD34A	1	145474292	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	33489635	145474292	103776329	34	5944											
OTUD7B	56957	genome.wustl.edu	37	chr1	149939398	149939398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacatgggaccgggccaggGaaacaatgctggagctggcg	17	9	0	1	rs202229859		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:149939398G>A	ENST00000369135.4	-	4	617	c.323C>T	c.(322-324)tCc>tTc	p.S108F	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	108					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCGGGCCAGGGAAACAATGCT	0.562																																																	0								ENSG00000163113						56	61	60					1																	149939398		1957	4151	6108	OTUD7B	SO:0001583	missense	0			-	HGNC	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.323C>T	1.37:g.149939398G>A	ENSP00000358131:p.Ser108Phe	Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP							pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S108F	ENST00000369135.4	37	c.323	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710314	0.89018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.36520	1.25;1.34	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.50398	-0.8833	9	.	.	.	.	17.7703	0.88490	0.0:0.0:1.0:0.0	.	108	Q6GQQ9	OTU7B_HUMAN	F	108	ENSP00000358131:S108F;ENSP00000408231:S108F	.	S	-	2	0	OTUD7B	148206022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.672000	0.90937	0.557000	0.71058	TCC	-	NULL		0.562	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	protein_coding	OTTHUMT00000034146.3	G	NM_020205	-		149939398	-1	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	SNP	1.000	A	A	149939398	G	A	149939398	3	1	102	1	0	0	0	0	1	0	0	0	11321	1174	41	2	2244	2	OTUD7B	1	149939398	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4465106	149939398	99311223	35	5945											
SETDB1	9869	genome.wustl.edu	37	chr1	150923309	150923309	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgagactggctgtgacttCctcttcctggagatgttctg	11	10	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:150923309C>T	ENST00000271640.5	+	13	2146	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.F652F	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	652	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTGTGACTTCCTCTTCCTGG	0.438																																																	0								ENSG00000143379						156	140	146					1																	150923309		2203	4300	6503	SETDB1	SO:0001819	synonymous_variant	0			-	HGNC	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1956C>T	1.37:g.150923309C>T		Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP							pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.F652	ENST00000271640.5	37	c.1956	CCDS44217.1	1																																																																																			-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	protein_coding	OTTHUMT00000084717.2	C		-		150923309	1	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	SNP	0.998	T	T	150923309	C	T	150923309	2	4	102	1	0	0	0	0	0	0	0	1	14146	854	30	2		2	SETDB1	1	150923309	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	983911	150923309	98327312	36	5946											
TCHHL1	126637	genome.wustl.edu	37	chr1	152057940	152057940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctctgatgttacaggttCctttgtttcaagttgtatct	7	9	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152057940C>T	ENST00000368806.1	-	3	2282	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	740							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)			GTTACAGGTTCCTTTGTTTCA	0.448																																																	0								ENSG00000182898						149	151	150					1																	152057940		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.2218G>A	1.37:g.152057940C>T	ENSP00000357796:p.Glu740Lys	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.E740K	ENST00000368806.1	37	c.2218	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.567732	0.28003	.	.	ENSG00000182898	ENST00000368806	T	0.23348	1.91	4.97	2.72	0.32119	.	0.205133	0.24274	N	0.039980	T	0.08223	0.0205	L	0.44542	1.39	0.09310	N	1	P	0.41673	0.759	B	0.43052	0.406	T	0.16928	-1.0386	10	0.10902	T	0.67	-5.9616	7.7511	0.28898	0.0:0.7705:0.0:0.2295	.	740	Q5QJ38	TCHL1_HUMAN	K	740	ENSP00000357796:E740K	ENSP00000357796:E740K	E	-	1	0	TCHHL1	150324564	0.008000	0.16893	0.012000	0.15200	0.002000	0.02628	-0.008000	0.12788	1.099000	0.41499	0.655000	0.94253	GAA	-	NULL		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	C	XM_060104	-		152057940	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.005	T	T	152057940	C	T	152057940	3	4	102	1	0	0	0	0	1	0	0	0	15708	864	30	2	500	2	TCHHL1	1	152057940	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1134631	152057940	97192681	37	5947											
HRNR	388697	genome.wustl.edu	37	chr1	152193480	152193480	+	Missense_Mutation	SNP	C	C	A													agactgtccggagccagagcCgtgttggccatagttgggag					rs149944132		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152193480C>A	ENST00000368801.2	-	3	700	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	209					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGAGCCGTGTTGGCCA	0.572																																																	0								ENSG00000197915						113	123	120					1																	152193480		2203	4300	6503	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.625G>T	1.37:g.152193480C>A	ENSP00000357791:p.Gly209Cys	Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G209C	ENST00000368801.2	37	c.625	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.127	0.209080	0.09757	.	.	ENSG00000197915	ENST00000368801	T	0.03860	3.78	3.61	-3.77	0.04346	.	.	.	.	.	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.68039	0.955	T	0.32851	-0.9891	9	0.66056	D	0.02	.	1.4995	0.02474	0.1363:0.3784:0.1335:0.3518	.	209	Q86YZ3	HORN_HUMAN	C	209	ENSP00000357791:G209C	ENSP00000357791:G209C	G	-	1	0	HRNR	150460104	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.558000	0.02164	-1.003000	0.03425	-1.163000	0.01768	GGC	-	NULL		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152193480	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	A	A	152193480	C	A	152193480	3	1	102	1	0	0	0	0	1	0	0	0	7361	652	23	3	7931	3	HRNR	1	152193480	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	135540	152193480	97057141	38	5948	68	2									
HRNR	388697	genome.wustl.edu	37	chr1	152193481	152193481	+	Silent	SNP	G	G	A													gactgtccggagccagagccGtgttggccatagttgggaga					rs144030283	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152193481G>A	ENST00000368801.2	-	3	699	c.624C>T	c.(622-624)caC>caT	p.H208H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	208					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGAGCCGTGTTGGCCAT	0.567													g|||	7	0.00139776	0.0045	0	5008	,	,		20438	0.001		0	False		,,,				2504	0																0								ENSG00000197915	G		14,4392	825.0+/-416.5	0,14,2189	111	121	118		624	-6.9	0	1	dbSNP_134	118	0,8600		0,0,4300	yes	coding-synonymous	HRNR	NM_001009931.1		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		208/2851	152193481	14,12992	2203	4300	6503	HRNR	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.624C>T	1.37:g.152193481G>A		Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q5DT20|Q5U1F4	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H208	ENST00000368801.2	37	c.624	CCDS30859.1	1																																																																																			-	NULL		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	G	XM_373868	rs144030283		152193481	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	SNP	0.000	A	A	152193481	G	A	152193481	2	1	102	1	0	0	0	0	0	0	0	1	7361	1136	40	1		1	HRNR	1	152193481	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	152193481	97057140	39	5949	68	2									
FLG	2312	genome.wustl.edu	37	chr1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgttgttctgcttgcaCttctggatcctgactgccca	9	12	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152278855C>T	ENST00000368799.1	-	3	8542	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2836	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)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis																																								0								ENSG00000143631						268	401	356					1																	152278855		2167	4299	6466	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.8507G>A	1.37:g.152278855C>T	ENSP00000357789:p.Ser2836Asn	Somatic	0	257	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	116	10.08	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2836N	ENST00000368799.1	37	c.8507	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786366	0.16189	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03745	3.82	1.87	-0.193	0.13244	.	.	.	.	.	T	0.01189	0.0039	M	0.76838	2.35	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.45293	-0.9271	9	0.27785	T	0.31	-0.3021	3.458	0.07523	0.2109:0.3779:0.4112:0.0	.	2836	P20930	FILA_HUMAN	N	2836;98	ENSP00000357789:S2836N	ENSP00000357786:S98N	S	-	2	0	FLG	150545479	.	.	0.000000	0.03702	0.031000	0.12232	.	.	-0.040000	0.13580	0.306000	0.20318	AGT	-	NULL		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016	-		152278855	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152278855	C	T	152278855	3	4	102	1	0	0	0	0	1	0	0	0	5924	565	20	2	3682	2	FLG	1	152278855	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	85374	152278855	96971766	40	5950											
LELP1	149018	genome.wustl.edu	37	chr1	153177421	153177421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcaccaagccctgtcctCctaaatgcccttcatcctgc	5	19	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153177421C>T	ENST00000368747.1	+	2	348	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	80	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTGTCCTCCTAAATGCCC	0.642																																																	0								ENSG00000203784						109	87	95					1																	153177421		2203	4300	6503	LELP1	SO:0001583	missense	0			-	HGNC		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.238C>T	1.37:g.153177421C>T	ENSP00000357736:p.Pro80Ser	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	A1L4E1	Missense_Mutation	SNP							NULL	p.P80S	ENST00000368747.1	37	c.238	CCDS30869.1	1	.	.	.	.	.	.	.	.	.	.	C	7.270	0.606997	0.14002	.	.	ENSG00000203784	ENST00000368747	.	.	.	4.41	2.54	0.30619	.	0.318640	0.22816	N	0.055288	T	0.10423	0.0255	.	.	.	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.29518	-1.0009	8	0.24483	T	0.36	-4.2907	6.8321	0.23915	0.0:0.7868:0.0:0.2132	.	80	Q5T871	LELP1_HUMAN	S	80	.	ENSP00000357736:P80S	P	+	1	0	LELP1	151444045	0.052000	0.20516	0.000000	0.03702	0.029000	0.11900	1.063000	0.30567	0.510000	0.28216	0.561000	0.74099	CCT	-	NULL		0.642	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LELP1	protein_coding	OTTHUMT00000039104.1	C	NM_001010857	-		153177421	1	no_errors	ENST00000368747	ensembl	human	known	74_37	missense	SNP	0.001	T	T	153177421	C	T	153177421	3	4	102	1	0	0	0	0	1	0	0	0	8720	855	30	2	240	2	LELP1	1	153177421	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	898566	153177421	96073200	41	5951											
S100A16	140576	genome.wustl.edu	37	chr1	153580151	153580151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgagcttatccgcagcCttccggttccctgtgtcctg	11	13	0	1	rs540582729		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153580151C>T	ENST00000368704.1	-	3	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368703.2_Silent_p.K57K|S100A16_ENST00000368705.2_Silent_p.K57K|S100A16_ENST00000368706.4_Silent_p.K57K			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	57	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATCCGCAGCCTTCCGGTTCC	0.592																																					Melanoma(71;1388 1729 37039 46098)												0								ENSG00000188643						76	69	71					1																	153580151		2203	4300	6503	S100A16	SO:0001819	synonymous_variant	0			-	HGNC	BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"S100 calcium binding proteins", "EF-hand domain containing"	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.171G>A	1.37:g.153580151C>T		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A8K439|D3DV52|Q5RHS6	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.K57	ENST00000368704.1	37	c.171	CCDS1045.1	1																																																																																			-	pfscan_EF_hand_dom		0.592	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A16	protein_coding	OTTHUMT00000037713.1	C	NM_080388	-		153580151	-1	no_errors	ENST00000368703	ensembl	human	known	74_37	silent	SNP	0.988	T	T	153580151	C	T	153580151	2	4	102	1	0	0	0	0	0	0	0	1	13785	680	24	2		2	S100A16	1	153580151	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	402730	153580151	95670470	42	5952											
DENND4B	9909	genome.wustl.edu	37	chr1	153912188	153912188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggaaggctccttggaCttcgcgctccagccgggccc	15	15	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153912188C>T	ENST00000361217.4	-	12	2114	c.1696G>A	c.(1696-1698)Gtc>Atc	p.V566I		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	566	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTCCTTGGACTTCGCGCTCC	0.642																																																	0								ENSG00000198837						68	82	77					1																	153912188		2055	4178	6233	DENND4B	SO:0001583	missense	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1696G>A	1.37:g.153912188C>T	ENSP00000354597:p.Val566Ile	Somatic	0	132	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	Q5T4K0	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V566I	ENST00000361217.4	37	c.1696	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394392	0.11638	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.49432	0.78;0.78	5.14	5.14	0.70334	dDENN (3);	0.313199	0.30949	N	0.008542	T	0.04137	0.0115	N	0.00332	-1.63	0.42668	D	0.993506	B	0.16603	0.018	B	0.17979	0.02	T	0.47761	-0.9092	10	0.02654	T	1	-26.5635	7.6274	0.28220	0.0:0.8285:0.0:0.1715	.	566	O75064	DEN4B_HUMAN	I	566;577	ENSP00000354597:V566I;ENSP00000357635:V577I	ENSP00000354597:V566I	V	-	1	0	DENND4B	152178812	1.000000	0.71417	0.989000	0.46669	0.623000	0.37688	4.724000	0.61972	2.689000	0.91719	0.462000	0.41574	GTC	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	C	XM_375806	-		153912188	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153912188	C	T	153912188	3	4	102	1	0	0	0	0	1	0	0	0	4436	565	20	2	2862	2	DENND4B	1	153912188	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	332037	153912188	95338433	43	5953											
DENND4B	9909	genome.wustl.edu	37	chr1	153914693	153914693	+	Silent	SNP	G	G	A													gctgcacccgtgagcacaaaGgtggagaagacgggcacggg					rs538600672	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153914693G>A	ENST00000361217.4	-	5	1198	c.780C>T	c.(778-780)acC>acT	p.T260T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	260	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAGCACAAAGGTGGAGAAGA	0.647																																																	0								ENSG00000198837						73	83	80					1																	153914693		2087	4206	6293	DENND4B	SO:0001819	synonymous_variant	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.780C>T	1.37:g.153914693G>A		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q5T4K0	Silent	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.T260	ENST00000361217.4	37	c.780	CCDS44228.1	1																																																																																			-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	G	XM_375806	-		153914693	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	silent	SNP	1.000	A	A	153914693	G	A	153914693	2	1	102	1	0	0	0	0	0	0	0	1	4436	987	35	2		2	DENND4B	1	153914693	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2505	153914693	95335928	44	5954	69	2									
DENND4B	9909	genome.wustl.edu	37	chr1	153914694	153914694	+	Missense_Mutation	SNP	G	G	A													ctgcacccgtgagcacaaagGtggagaagacgggcacgggg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153914694G>A	ENST00000361217.4	-	5	1197	c.779C>T	c.(778-780)aCc>aTc	p.T260I		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	260	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGCACAAAGGTGGAGAAGAC	0.642																																																	0								ENSG00000198837						73	84	80					1																	153914694		2087	4203	6290	DENND4B	SO:0001583	missense	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.779C>T	1.37:g.153914694G>A	ENSP00000354597:p.Thr260Ile	Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q5T4K0	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.T260I	ENST00000361217.4	37	c.779	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452548	0.84209	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.46063	0.88;0.88	4.63	4.63	0.57726	uDENN (3);	.	.	.	.	T	0.57330	0.2046	M	0.73372	2.23	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.61456	-0.7059	9	0.62326	D	0.03	-10.1873	16.4188	0.83752	0.0:0.0:1.0:0.0	.	260	O75064	DEN4B_HUMAN	I	260;271	ENSP00000354597:T260I;ENSP00000357635:T271I	ENSP00000354597:T260I	T	-	2	0	DENND4B	152181318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.407000	0.97325	2.420000	0.82092	0.563000	0.77884	ACC	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	G	XM_375806	-		153914694	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153914694	G	A	153914694	3	1	102	1	0	0	0	0	1	0	0	0	4436	1261	44	2	3807	2	DENND4B	1	153914694	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	153914694	95335927	45	5955	69	2									
C1orf189	388701	genome.wustl.edu	37	chr1	154173059	154173059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagtgagtatgtgaatttCgccacctgctccaggtacag	11	10	0	2	rs201047185		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:154173059C>T	ENST00000368525.3	-	3	105	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATGTGAATTTCGCCACCTGCT	0.483																																																	0								ENSG00000163263	T	GLN/ARG	0,4406		0,0,2203	200	187	191		80	-6.8	0	1		191	1,8599		0,1,4299	yes	missense	C1orf189	NM_001010979.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	27/102	154173059	1,13005	2203	4300	6503	C1orf189	SO:0001583	missense	0			-	HGNC		CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.80G>A	1.37:g.154173059C>T	ENSP00000357511:p.Arg27Gln	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	A1L4E3	Missense_Mutation	SNP							NULL	p.R27Q	ENST00000368525.3	37	c.80	CCDS30876.1	1	.	.	.	.	.	.	.	.	.	.	c	9.719	1.159141	0.21454	0.0	1.16E-4	ENSG00000163263	ENST00000368525	.	.	.	4.82	-6.83	0.01693	.	0.650011	0.15261	N	0.271774	T	0.13500	0.0327	L	0.33485	1.01	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.11421	-1.0588	9	0.31617	T	0.26	.	14.0757	0.64889	0.0:0.1773:0.0:0.8227	.	27	Q5VU69	CA189_HUMAN	Q	27	.	ENSP00000357511:R27Q	R	-	2	0	C1orf189	152439683	0.000000	0.05858	0.002000	0.10522	0.675000	0.39556	-2.084000	0.01363	-1.553000	0.01702	-1.163000	0.01768	CGA	-	NULL		0.483	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf189	protein_coding	OTTHUMT00000087672.1	C	NM_001010979	rs201047185		154173059	-1	no_errors	ENST00000368525	ensembl	human	known	74_37	missense	SNP	0.004	T	T	154173059	C	T	154173059	3	4	102	1	0	0	0	0	1	0	0	0	2024	884	31	1	233	1	C1orf189	1	154173059	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	258365	154173059	95077562	46	5956											
ASH1L	55870	genome.wustl.edu	37	chr1	155429630	155429630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaccttttccgggtagGgctacaatttgtgctctctg	11	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:155429630G>A	ENST00000368346.3	-	4	5683	c.5044C>T	c.(5044-5046)Cct>Tct	p.P1682S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P1682S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1682	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCCGGGTAGGGCTACAATTT	0.413																																																	0								ENSG00000116539						86	85	85					1																	155429630		2203	4300	6503	ASH1L	SO:0001583	missense	0			-	HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5044C>T	1.37:g.155429630G>A	ENSP00000357330:p.Pro1682Ser	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP							pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.P1682S	ENST00000368346.3	37	c.5044		1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363494	0.82353	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	4.39	4.39	0.52855	.	0.071630	0.56097	D	0.000024	D	0.85115	0.5623	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	D	0.84572	0.0656	10	0.25751	T	0.34	.	14.9301	0.70908	0.0:0.0:1.0:0.0	.	1682;1682	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	1682	ENSP00000357330:P1682S;ENSP00000376204:P1682S	ENSP00000357330:P1682S	P	-	1	0	ASH1L	153696254	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.344000	0.65981	2.283000	0.76528	0.591000	0.81541	CCT	-	NULL		0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	G	NM_018489	-		155429630	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155429630	G	A	155429630	3	1	102	1	0	0	0	0	1	0	0	0	1041	1232	43	2	3950	2	ASH1L	1	155429630	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1256571	155429630	93820991	47	5957											
C1orf85	112770	genome.wustl.edu	37	chr1	156263235	156263235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtgactggggaagagagtAtgctaaggcaggatgaagag	19	3	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:156263235A>T	ENST00000362007.1	-	5	957	c.931T>A	c.(931-933)Tac>Aac	p.Y311N	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	311					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGAAGAGAGTATGCTAAGGCA	0.582																																																	0								ENSG00000198715						90	101	98					1																	156263235		2203	4300	6503	C1orf85	SO:0001583	missense	0			-	HGNC	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.931T>A	1.37:g.156263235A>T	ENSP00000354553:p.Tyr311Asn	Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP							NULL	p.Y311N	ENST00000362007.1	37	c.931	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	A	3.657	-0.070346	0.07228	.	.	ENSG00000198715	ENST00000362007	T	0.20200	2.09	5.38	1.81	0.25067	.	0.810972	0.11361	N	0.571871	T	0.07098	0.0180	L	0.53249	1.67	0.09310	N	1	B;B	0.20459	0.045;0.045	B;B	0.23852	0.049;0.049	T	0.38672	-0.9650	10	0.24483	T	0.36	-12.1969	6.9099	0.24329	0.7297:0.0:0.2703:0.0	.	230;311	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	311	ENSP00000354553:Y311N	ENSP00000354553:Y311N	Y	-	1	0	C1orf85	154529859	0.004000	0.15560	0.001000	0.08648	0.162000	0.22319	1.144000	0.31565	0.509000	0.28195	0.379000	0.24179	TAC	-	NULL		0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	protein_coding	OTTHUMT00000052108.1	A	NM_144580	-		156263235	-1	no_errors	ENST00000362007	ensembl	human	known	74_37	missense	SNP	0.001	T	T	156263235	A	T	156263235	3	4	102	1	0	0	0	0	1	0	0	0	2064	449	16	5	297	5	C1orf85	1	156263235	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	833605	156263235	92987386	48	5958											
FCRL2	79368	genome.wustl.edu	37	chr1	157739747	157739747	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagaccctgtgtcttcactCcacacggcagaaatctggag	9	12	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:157739747C>T	ENST00000361516.3	-	4	552	c.504G>A	c.(502-504)tgG>tgA	p.W168*	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.W168*|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	168	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTCTTCACTCCACACGGCAG	0.527																																																	0								ENSG00000132704						75	77	76					1																	157739747		2203	4300	6503	FCRL2	SO:0001587	stop_gained	0			-	HGNC	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.504G>A	1.37:g.157739747C>T	ENSP00000355157:p.Trp168*	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W168*	ENST00000361516.3	37	c.504	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424761	0.62733	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	.	.	.	4.41	3.49	0.39957	.	2.052840	0.02644	N	0.105683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.0734	0.30701	0.0:0.89:0.0:0.11	.	.	.	.	X	168	.	ENSP00000355157:W168X	W	-	3	0	FCRL2	156006371	0.006000	0.16342	0.036000	0.18154	0.036000	0.12997	1.232000	0.32636	1.201000	0.43203	0.591000	0.81541	TGG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	protein_coding	OTTHUMT00000051408.2	C	NM_030764	-		157739747	-1	no_errors	ENST00000361516	ensembl	human	known	74_37	nonsense	SNP	0.101	T	T	157739747	C	T	157739747	4	4	102	1	0	0	0	0	0	1	0	0	5797	856	30	2	1058	2	FCRL2	1	157739747	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1476512	157739747	91510874	49	5959											
KIRREL	55243	genome.wustl.edu	37	chr1	158064706	158064706	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacgagaactatgagaagttCaactcccatcccttccctgg	7	13	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:158064706C>T	ENST00000359209.6	+	15	2137	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	KIRREL_ENST00000392272.2_Silent_p.F587F|KIRREL_ENST00000368172.1_Silent_p.F504F|KIRREL_ENST00000368173.3_Silent_p.F706F|KIRREL_ENST00000360089.4_Silent_p.F526F|KIRREL_ENST00000416935.2_Silent_p.F590F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	690					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATGAGAAGTTCAACTCCCATC	0.647																																																	0								ENSG00000183853						51	54	53					1																	158064706		2203	4300	6503	KIRREL	SO:0001819	synonymous_variant	0			-	HGNC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2070C>T	1.37:g.158064706C>T		Somatic	0	94	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	35	33.96	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F706	ENST00000359209.6	37	c.2118	CCDS1172.2	1																																																																																			-	NULL		0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	protein_coding	OTTHUMT00000058342.3	C	NM_018240	-		158064706	1	no_errors	ENST00000368173	ensembl	human	known	74_37	silent	SNP	0.999	T	T	158064706	C	T	158064706	2	4	102	1	0	0	0	0	0	0	0	1	8326	825	29	2		2	KIRREL	1	158064706	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	324959	158064706	91185915	50	5960											
CD1B	910	genome.wustl.edu	37	chr1	158299203	158299203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctctaaactgctgtgcttCacccgacaggacaggccagc	9	16	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:158299203C>T	ENST00000368168.3	-	4	950	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	281	Ig-like.				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)					TGCTGTGCTTCACCCGACAGG	0.557																																																	0								ENSG00000158485						87	83	84					1																	158299203		2203	4300	6503	CD1B	SO:0001819	synonymous_variant	0			-	HGNC	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.843G>A	1.37:g.158299203C>T		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP							pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V281	ENST00000368168.3	37	c.843	CCDS1176.1	1																																																																																			-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.557	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	protein_coding	OTTHUMT00000046350.2	C	NM_001764	-		158299203	-1	no_errors	ENST00000368168	ensembl	human	known	74_37	silent	SNP	0.957	T	T	158299203	C	T	158299203	2	4	102	1	0	0	0	0	0	0	0	1	2977	813	29	2		2	CD1B	1	158299203	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	234497	158299203	90951418	51	5961											
CCDC19	25790	genome.wustl.edu	37	chr1	159854353	159854353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttccacaatttgccgccttCctcttggagagaacagtgcc	9	13	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:159854353C>T	ENST00000368099.4	-	7	834	c.770G>A	c.(769-771)gGa>gAa	p.G257E	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.G172E	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCCGCCTTCCTCTTGGAGA	0.542																																																	0								ENSG00000213085						164	160	161					1																	159854353		2203	4300	6503	CCDC19	SO:0001583	missense	0			-	HGNC																												ENST00000368099.4:c.770G>A	1.37:g.159854353C>T	ENSP00000357079:p.Gly257Glu	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	30.43		Missense_Mutation	SNP							NULL	p.G257E	ENST00000368099.4	37	c.770	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288527	0.59976	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11063	2.81;2.81	4.81	4.81	0.61882	.	0.244508	0.39407	N	0.001369	T	0.22322	0.0538	M	0.69358	2.11	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00617	-1.1642	9	.	.	.	-19.6849	15.7565	0.78030	0.0:1.0:0.0:0.0	.	257;257	A8K884;Q9UL16	.;CCD19_HUMAN	E	257;172	ENSP00000357079:G257E;ENSP00000403044:G172E	.	G	-	2	0	CCDC19	158120977	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	4.657000	0.61490	2.370000	0.80446	0.655000	0.94253	GGA	-	NULL		0.542	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	protein_coding	OTTHUMT00000085979.1	C		-		159854353	-1	no_errors	ENST00000368099	ensembl	human	known	74_37	missense	SNP	1.000	T	T	159854353	C	T	159854353	3	4	102	1	0	0	0	0	1	0	0	0	2797	855	30	2	909	2	CCDC19	1	159854353	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1555150	159854353	89396268	52	5962											
SLAMF1	6504	genome.wustl.edu	37	chr1	160589632	160589632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgttgtctggtaatggttCgttttacctggtgaaaagaa	11	5	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:160589632C>T	ENST00000302035.6	-	5	1147	c.798G>A	c.(796-798)acG>acA	p.T266T	SLAMF1_ENST00000355199.3_Silent_p.T266T|SLAMF1_ENST00000235739.5_Silent_p.T236T|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	266					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTAATGGTTCGTTTTACCTG	0.438																																																	0								ENSG00000117090						235	233	234					1																	160589632		2203	4300	6503	SLAMF1	SO:0001819	synonymous_variant	0			-	HGNC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.798G>A	1.37:g.160589632C>T		Somatic	0	123	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	Q5W172|Q9HBE8	Silent	SNP							pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom	p.T266	ENST00000302035.6	37	c.798	CCDS1207.1	1																																																																																			-	NULL		0.438	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	protein_coding	OTTHUMT00000060454.1	C		-		160589632	-1	no_errors	ENST00000302035	ensembl	human	known	74_37	silent	SNP	0.004	T	T	160589632	C	T	160589632	2	4	102	1	0	0	0	0	0	0	0	1	14375	871	31	1		1	SLAMF1	1	160589632	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	735279	160589632	88660989	53	5963											
C1orf226	284680	genome.wustl.edu	37	chr1	162348707	162348707	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtccccccgaggtatgCtggtgctggtggcccaggca	15	13	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:162348707C>T	ENST00000367935.5	-	0	0				RP11-565P22.6_ENST00000431696.1_Intron|C1orf226_ENST00000426197.2_Silent_p.L2L|C1orf226_ENST00000458626.2_5'Flank	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111											central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CCGAGGTATGCTGGTGCTGGT	0.547																																																	0								ENSG00000239887						192	166	174					1																	162348707		692	1591	2283	C1orf226	SO:0001631	upstream_gene_variant	0			-	HGNC	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375		1.37:g.162348707C>T	Exception_encountered	Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q6X961|Q8NEC3	Silent	SNP							NULL	p.L2	ENST00000367935.5	37	c.4	CCDS1238.1	1																																																																																			-	NULL		0.547	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf226	protein_coding	OTTHUMT00000076791.2	C	NM_182581	-		162348707	1	no_errors	ENST00000426197	ensembl	human	known	74_37	silent	SNP	0.000	T	T	162348707	C	T	162348707	1	4	102	0	1	0	0	0	0	0	0	0	2034	796	28	2		2	C1orf226	1	162348707	5'Flank	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1759075	162348707	86901914	54	5964											
DDR2	4921	genome.wustl.edu	37	chr1	162737119	162737119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcattgtcatcatcctctgGaggcagttctggcagaaaat	9	9	5	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:162737119G>A	ENST00000367922.3	+	12	1701	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W421*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	421					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)			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)	TCATCCTCTGGAGGCAGTTCT	0.473																																					NSCLC(161;314 2006 8283 19651 23192)												0								ENSG00000162733						112	102	106					1																	162737119		2203	4300	6503	DDR2	SO:0001587	stop_gained	0			-	HGNC	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.1263G>A	1.37:g.162737119G>A	ENSP00000356899:p.Trp421*	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q7Z730	Nonsense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W421*	ENST00000367922.3	37	c.1263	CCDS1241.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.274342|6.274342	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30572|.	0.0769|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26780|.	-1.0093|.	3|.	.|0.02654	.|T	.|1	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	14|421;421;31	.|.	.|ENSP00000356898:W421X	E|W	+|+	1|3	0|0	DDR2|DDR2	161003743|161003743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAG|TGG	-	NULL		0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	G	NM_006182	-		162737119	1	no_errors	ENST00000367921	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	162737119	G	A	162737119	4	1	102	1	0	0	0	0	0	1	0	0	4339	1183	41	2	1297	2	DDR2	1	162737119	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	388412	162737119	86513502	55	5965											
ALDH9A1	223	genome.wustl.edu	37	chr1	165649754	165649754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacacttccagtgaaGgagactttggccacatcggg	14	10	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:165649754G>A	ENST00000354775.4	-	5	1063	c.759C>T	c.(757-759)tcC>tcT	p.S253S	ALDH9A1_ENST00000538148.1_Silent_p.S159S|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	229					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCCAGTGAAGGAGACTTTGG	0.547																																					Ovarian(179;1583 2014 18106 33801 42447)												0								ENSG00000143149						150	143	145					1																	165649754		2203	4300	6503	ALDH9A1	SO:0001819	synonymous_variant	0			-	HGNC	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.759C>T	1.37:g.165649754G>A		Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S253	ENST00000354775.4	37	c.759	CCDS1250.2	1																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.547	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	protein_coding	OTTHUMT00000083899.1	G		-		165649754	-1	no_errors	ENST00000354775	ensembl	human	known	74_37	silent	SNP	0.996	A	A	165649754	G	A	165649754	2	1	102	1	0	0	0	0	0	0	0	1	506	987	35	2		2	ALDH9A1	1	165649754	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2912635	165649754	83600867	56	5966											
F5	2153	genome.wustl.edu	37	chr1	169509743	169509743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcactgctctggacctcttCctttggaatgatctcaatgt	7	11	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:169509743C>T	ENST00000367797.3	-	13	4786	c.4585G>A	c.(4585-4587)Gaa>Aaa	p.E1529K	F5_ENST00000367796.3_Missense_Mutation_p.E1534K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1529	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGACCTCTTCCTTTGGAATG	0.398																																																	0								ENSG00000198734						83	70	74					1																	169509743		2203	4300	6503	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4585G>A	1.37:g.169509743C>T	ENSP00000356771:p.Glu1529Lys	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1529K	ENST00000367797.3	37	c.4585	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156461	0.21454	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98192	-4.78;-4.78	5.93	-5.54	0.02544	.	1.045680	0.07399	N	0.890405	D	0.92961	0.7760	L	0.36672	1.1	0.31839	N	0.623715	B	0.23316	0.083	B	0.17979	0.02	T	0.66256	-0.5969	9	0.32370	T	0.25	-0.0295	20.4031	0.99004	0.0:0.7382:0.121:0.1408	.	1529	P12259	FA5_HUMAN	K	1529;1534	ENSP00000356771:E1529K;ENSP00000356770:E1534K	ENSP00000356770:E1534K	E	-	1	0	F5	167776367	0.000000	0.05858	0.007000	0.13788	0.118000	0.20060	-0.815000	0.04481	-1.508000	0.01800	-0.340000	0.08031	GAA	-	NULL		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169509743	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	0.015	T	T	169509743	C	T	169509743	3	4	102	1	0	0	0	0	1	0	0	0	5350	864	30	2	2141	2	F5	1	169509743	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3859989	169509743	79740878	57	5967											
FMO2	2327	genome.wustl.edu	37	chr1	171174662	171174662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtataaatacatattcCccgctcacctggacaagtca	5	13	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:171174662C>T	ENST00000209929.7	+	7	1230	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.P358S			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	357					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATACATATTCCCCGCTCACCT	0.438																																																	0								ENSG00000094963						85	81	82					1																	171174662		2203	4300	6503	FMO2	SO:0001583	missense	0			-	HGNC	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1072C>T	1.37:g.171174662C>T	ENSP00000209929:p.Pro358Ser	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q53XR0	Missense_Mutation	SNP							pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.P358S	ENST00000209929.7	37	c.1072	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889062	0.72524	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.66280	-0.2;-0.2	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83794	0.0232	10	0.87932	D	0	-21.1244	18.9446	0.92616	0.0:1.0:0.0:0.0	.	358	Q99518	FMO2_HUMAN	S	358	ENSP00000209929:P358S;ENSP00000405905:P358S	ENSP00000209929:P358S	P	+	1	0	FMO2	169441286	1.000000	0.71417	0.992000	0.48379	0.172000	0.22775	7.807000	0.86032	2.768000	0.95171	0.655000	0.94253	CCC	-	pfam_Flavin_mOase-like		0.438	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	protein_coding	OTTHUMT00000086216.2	C	NM_001460	-		171174662	1	no_errors	ENST00000209929	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171174662	C	T	171174662	3	4	102	1	0	0	0	0	1	0	0	0	5957	623	22	2	1094	2	FMO2	1	171174662	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1664919	171174662	78075959	58	5968											
TNN	63923	genome.wustl.edu	37	chr1	175063125	175063125	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctcatgtgtttttatgaaGaaattgacagtccaaccaat	6	7	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:175063125G>A	ENST00000239462.4	+	7	1437		c.e7-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTTTTATGAAGAAATTGACAG	0.408																																																	0								ENSG00000120332						79	76	77					1																	175063125		2203	4300	6503	TNN	SO:0001630	splice_region_variant	0			-	HGNC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1325-1G>A	1.37:g.175063125G>A		Somatic	0	26	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B9EGP3|Q5R360	Splice_Site	SNP							-	e6-1	ENST00000239462.4	37	c.1325-1	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398466	0.62177	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	4.86	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.419	0.32690	0.1058:0.0:0.8942:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNN	173329748	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.375000	0.90135	2.408000	0.81797	0.563000	0.77884	.	-	-		0.408	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	protein_coding	OTTHUMT00000084422.1	G	XM_040527	-	Intron	175063125	1	no_errors	ENST00000239462	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	175063125	G	A	175063125	5	1	102	1	0	0	0	0	0	0	1	0	16330	956	33	2	1346	2	TNN	1	175063125	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3888463	175063125	74187496	59	5969											
SEC16B	89866	genome.wustl.edu	37	chr1	177936955	177936955	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgctgtggctgggggctCccacggttgtcttgccattg	14	12	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:177936955C>T	ENST00000308284.6	-	2	251	c.162G>A	c.(160-162)ggG>ggA	p.G54G	SEC16B_ENST00000464631.2_Silent_p.G54G|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	54	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGGGGGCTCCCACGGTTGT	0.592																																																	0								ENSG00000120341						70	75	74					1																	177936955		2067	4229	6296	SEC16B	SO:0001819	synonymous_variant	0			-	HGNC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.162G>A	1.37:g.177936955C>T		Somatic	0	92	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP							NULL	p.G54	ENST00000308284.6	37	c.162	CCDS44281.1	1																																																																																			-	NULL		0.592	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	protein_coding	OTTHUMT00000084773.16	C	NM_033127	-		177936955	-1	no_errors	ENST00000308284	ensembl	human	known	74_37	silent	SNP	0.174	T	T	177936955	C	T	177936955	2	4	102	1	0	0	0	0	0	0	0	1	13995	842	30	2		2	SEC16B	1	177936955	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2873830	177936955	71313666	60	5970											
LAMC1	3915	genome.wustl.edu	37	chr1	183102597	183102597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagctgcccgagtacAtgaggaggccaaaagggccg	13	10	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:183102597A>G	ENST00000258341.4	+	22	4018	c.3761A>G	c.(3760-3762)cAt>cGt	p.H1254R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1254	Domain II and I.				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)			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						GCCCGAGTACATGAGGAGGCC	0.493																																																	0								ENSG00000135862						137	134	135					1																	183102597		2203	4300	6503	LAMC1	SO:0001583	missense	0			-	HGNC	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.3761A>G	1.37:g.183102597A>G	ENSP00000258341:p.His1254Arg	Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	Q5VYE7	Missense_Mutation	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.H1254R	ENST00000258341.4	37	c.3761	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906511	0.33628	.	.	ENSG00000135862	ENST00000258341	T	0.21031	2.03	5.41	4.29	0.51040	.	0.150649	0.64402	N	0.000012	T	0.18383	0.0441	L	0.57536	1.79	0.40286	D	0.978456	B	0.23442	0.085	B	0.19666	0.026	T	0.06661	-1.0814	10	0.19590	T	0.45	.	7.1696	0.25710	0.7959:0.0:0.0735:0.1306	.	1254	P11047	LAMC1_HUMAN	R	1254	ENSP00000258341:H1254R	ENSP00000258341:H1254R	H	+	2	0	LAMC1	181369220	1.000000	0.71417	0.791000	0.31998	0.770000	0.43624	4.158000	0.58150	0.997000	0.38969	-0.376000	0.06991	CAT	-	NULL		0.493	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	A	NM_002293	-		183102597	1	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	SNP	1.000	G	G	183102597	A	G	183102597	3	3	102	1	0	0	0	0	1	0	0	0	8616	217	8	5	3847	5	LAMC1	1	183102597	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	5165642	183102597	66148024	61	5971											
SMG7	9887	genome.wustl.edu	37	chr1	183519982	183519982	+	Missense_Mutation	SNP	C	C	T													ccataattctgttccattctCcaattttggacccattggga							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:183519982C>T	ENST00000347615.2	+	20	3199	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	SMG7_ENST00000508461.1_Missense_Mutation_p.S1035F|SMG7_ENST00000456731.2_Missense_Mutation_p.S939F|SMG7_ENST00000367537.3_Missense_Mutation_p.S1060F|SMG7_ENST00000515829.2_Missense_Mutation_p.S981F|SMG7_ENST00000507469.1_Missense_Mutation_p.S1031F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1027					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GTTCCATTCTCCAATTTTGGA	0.478																																																	0								ENSG00000116698						114	108	110					1																	183519982		2203	4300	6503	SMG7	SO:0001583	missense	0			-	HGNC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3080C>T	1.37:g.183519982C>T	ENSP00000340766:p.Ser1027Phe	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP							pfam_EST1	p.S1031F	ENST00000347615.2	37	c.3092	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735077	0.89482	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.32753	1.47;1.49;1.45;1.52;1.44;1.45	5.45	5.45	0.79879	.	0.053457	0.85682	D	0.000000	T	0.46852	0.1414	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.997;0.998;0.998	D;D;D;D;D	0.80764	0.991;0.991;0.994;0.991;0.991	T	0.45249	-0.9274	10	0.72032	D	0.01	-12.6602	19.6597	0.95861	0.0:1.0:0.0:0.0	.	1035;939;981;1027;1031	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	F	939;1060;1035;1027;1031;981	ENSP00000407629:S939F;ENSP00000356507:S1060F;ENSP00000426915:S1035F;ENSP00000340766:S1027F;ENSP00000425133:S1031F;ENSP00000421358:S981F	ENSP00000340766:S1027F	S	+	2	0	SMG7	181786605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.071000	0.76770	2.708000	0.92522	0.650000	0.86243	TCC	-	NULL		0.478	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	C	NM_014837	-		183519982	1	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183519982	C	T	183519982	3	4	102	1	0	0	0	0	1	0	0	0	14806	855	30	2	3312	2	SMG7	1	183519982	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	417385	183519982	65730639	62	5972	70	2									
SMG7	9887	genome.wustl.edu	37	chr1	183519983	183519983	+	Silent	SNP	C	C	T													cataattctgttccattctcCaattttggacccattgggac							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:183519983C>T	ENST00000347615.2	+	20	3200	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	SMG7_ENST00000508461.1_Silent_p.S1035S|SMG7_ENST00000456731.2_Silent_p.S939S|SMG7_ENST00000367537.3_Silent_p.S1060S|SMG7_ENST00000515829.2_Silent_p.S981S|SMG7_ENST00000507469.1_Silent_p.S1031S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1027					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTCCATTCTCCAATTTTGGAC	0.478																																																	0								ENSG00000116698						113	107	109					1																	183519983		2203	4300	6503	SMG7	SO:0001819	synonymous_variant	0			-	HGNC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3081C>T	1.37:g.183519983C>T		Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP							pfam_EST1	p.S1031	ENST00000347615.2	37	c.3093	CCDS1355.1	1																																																																																			-	NULL		0.478	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	C	NM_014837	-		183519983	1	no_errors	ENST00000507469	ensembl	human	known	74_37	silent	SNP	1.000	T	T	183519983	C	T	183519983	2	4	102	1	0	0	0	0	0	0	0	1	14806	581	21	2		2	SMG7	1	183519983	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	183519983	65730638	63	5973	70	2									
C1orf26	54823	genome.wustl.edu	37	chr1	185143987	185143987	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaagatcagtttcaaaatCcctataaaatcccgtgacac	5	11	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:185143987C>T	ENST00000367500.4	+	5	873	c.708C>T	c.(706-708)atC>atT	p.I236I	SWT1_ENST00000367501.3_Silent_p.I236I	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	236								p.I236I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTTTCAAAATCCCTATAAAAT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000116668						80	90	87					1																	185143987		2202	4300	6502	SWT1	SO:0001819	synonymous_variant	0			-	HGNC	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.708C>T	1.37:g.185143987C>T		Somatic	0	90	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP							smart_PIN_dom	p.I236	ENST00000367500.4	37	c.708	CCDS1367.1	1																																																																																			-	NULL		0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	protein_coding	OTTHUMT00000085790.1	C	NM_017673	-		185143987	1	no_errors	ENST00000367500	ensembl	human	known	74_37	silent	SNP	0.525	T	T	185143987	C	T	185143987	2	4	102	1	0	0	0	0	0	0	0	1	2037	845	30	2		2	C1orf26	1	185143987	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1624004	185143987	64106634	64	5974											
KIF21B	23046	genome.wustl.edu	37	chr1	200943942	200943942	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagttgtccacgttccAgaccttgatgacacccgcac	9	13	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:200943942A>C	ENST00000422435.2	-	34	5030	c.4714T>G	c.(4714-4716)Tgg>Ggg	p.W1572G	KIF21B_ENST00000461742.2_Missense_Mutation_p.W1572G|KIF21B_ENST00000360529.5_Missense_Mutation_p.W1559G|KIF21B_ENST00000332129.2_Missense_Mutation_p.W1559G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1572					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCACGTTCCAGACCTTGATG	0.602																																																	0								ENSG00000116852						250	211	224					1																	200943942		2203	4300	6503	KIF21B	SO:0001583	missense	0			-	HGNC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4714T>G	1.37:g.200943942A>C	ENSP00000411831:p.Trp1572Gly	Somatic	0	79	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.W1572G	ENST00000422435.2	37	c.4714	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940804	0.73557	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.57	3.41	0.39046	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	0.94009	0.8081	H	0.98629	4.285	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.994	D	0.94000	0.7274	10	0.87932	D	0	.	11.1495	0.48451	0.8451:0.1549:0.0:0.0	.	1559;1572;1572;1559	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	1559;1559;1572;1572;1572	ENSP00000328494:W1559G;ENSP00000353724:W1559G;ENSP00000433808:W1572G;ENSP00000411831:W1572G	ENSP00000328494:W1559G	W	-	1	0	KIF21B	199210565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.341000	0.79300	0.580000	0.29522	0.459000	0.35465	TGG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	protein_coding	OTTHUMT00000382635.1	A	XM_371332	-		200943942	-1	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	SNP	1.000	C	C	200943942	A	C	200943942	3	2	102	1	0	0	0	0	1	0	0	0	8291	188	7	5	207	5	KIF21B	1	200943942	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	15799955	200943942	48306679	65	5975											
LMOD1	25802	genome.wustl.edu	37	chr1	201869728	201869728	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttgccaccagcttcatctCtgtctctagagaagcttttc	6	13	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:201869728C>A	ENST00000367288.4	-	2	659	c.413G>T	c.(412-414)aGa>aTa	p.R138I	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	138					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						AGCTTCATCTCTGTCTCTAGA	0.562																																																	0								ENSG00000163431						105	110	108					1																	201869728		1948	4148	6096	LMOD1	SO:0001583	missense	0			-	HGNC	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.413G>T	1.37:g.201869728C>A	ENSP00000356257:p.Arg138Ile	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP							pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R138I	ENST00000367288.4	37	c.413	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292891	0.40594	.	.	ENSG00000163431	ENST00000367288;ENST00000400965	T	0.12569	2.67	5.77	0.809	0.18725	.	0.175545	0.26654	N	0.023181	T	0.06600	0.0169	L	0.29908	0.895	0.19945	N	0.999947	P	0.43169	0.8	B	0.32289	0.143	T	0.31447	-0.9943	10	0.62326	D	0.03	-3.0751	4.2052	0.10485	0.1414:0.2094:0.0:0.6492	.	138	P29536	LMOD1_HUMAN	I	138	ENSP00000356257:R138I	ENSP00000356257:R138I	R	-	2	0	LMOD1	200136351	0.001000	0.12720	0.028000	0.17463	0.778000	0.44026	0.255000	0.18333	-0.100000	0.12241	0.655000	0.94253	AGA	-	NULL		0.562	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	protein_coding	OTTHUMT00000087085.2	C		-		201869728	-1	no_errors	ENST00000367288	ensembl	human	known	74_37	missense	SNP	0.177	A	A	201869728	C	A	201869728	3	1	102	1	0	0	0	0	1	0	0	0	8858	913	32	3	1397	3	LMOD1	1	201869728	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	925786	201869728	47380893	66	5976											
CENPF	1063	genome.wustl.edu	37	chr1	214828746	214828746	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggagaagcagaaaacaGgtgggtgttaactggggcac	15	7	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:214828746G>A	ENST00000366955.3	+	17	8653	c.8485G>A	c.(8485-8487)Ggt>Agt	p.G2829S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2925	Sufficient for centromere localization.|Sufficient for self-association.				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)		GCAGAAAACAGGTGGGTGTTA	0.423																																					Colon(80;575 1284 11000 14801 43496)												0								ENSG00000117724						59	59	59					1																	214828746		2203	4300	6503	CENPF	SO:0001630	splice_region_variant	0			-	HGNC	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.8485+1G>A	1.37:g.214828746G>A		Somatic	0	34	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP							pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.G2829S	ENST00000366955.3	37	c.8485	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785941	0.49997	.	.	ENSG00000117724	ENST00000366955	T	0.03181	4.02	5.81	4.8	0.61643	.	0.237970	0.21786	N	0.069136	T	0.04363	0.0120	L	0.53249	1.67	0.58432	D	0.999999	P	0.46784	0.884	B	0.41374	0.355	T	0.46219	-0.9207	10	0.09084	T	0.74	.	10.0001	0.41924	0.1221:0.0:0.8779:0.0	.	2925	P49454	CENPF_HUMAN	S	2829	ENSP00000355922:G2829S	ENSP00000355922:G2829S	G	+	1	0	CENPF	212895369	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	2.484000	0.45242	2.736000	0.93811	0.655000	0.94253	GGT	-	NULL		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	G	NM_016343	-	Missense_Mutation	214828746	1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	SNP	0.994	A	A	214828746	G	A	214828746	5	1	102	1	0	0	0	0	0	0	1	0	3233	1014	35	2	8547	2	CENPF	1	214828746	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12959018	214828746	34421875	67	5977											
EPRS	2058	genome.wustl.edu	37	chr1	220191843	220191843	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatgttcacgactgaacgtGaggagccctaaaaaacaata	8	10	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:220191843G>A	ENST00000366923.3	-	12	1711	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	481	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GACTGAACGTGAGGAGCCCTA	0.353																																																	0								ENSG00000136628						93	86	88					1																	220191843		2203	4300	6503	EPRS	SO:0001583	missense	0			-	HGNC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1442C>T	1.37:g.220191843G>A	ENSP00000355890:p.Ser481Leu	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP							pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.S481L	ENST00000366923.3	37	c.1442	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764476	0.89932	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.26957	1.7	5.92	5.92	0.95590	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	H	0.97940	4.11	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.998	D;D;D	0.74674	0.934;0.984;0.94	T	0.80997	-0.1132	10	0.87932	D	0	-17.951	20.3151	0.98650	0.0:0.0:1.0:0.0	.	505;481;481	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	L	481;481;505	ENSP00000355890:S481L	ENSP00000355890:S481L	S	-	2	0	EPRS	218258466	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.338000	0.96553	2.809000	0.96659	0.467000	0.42956	TCA	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk		0.353	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	protein_coding	OTTHUMT00000091133.2	G	NM_004446	-		220191843	-1	no_errors	ENST00000366923	ensembl	human	known	74_37	missense	SNP	1.000	A	A	220191843	G	A	220191843	3	1	102	1	0	0	0	0	1	0	0	0	5193	1294	45	2	3180	2	EPRS	1	220191843	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5363097	220191843	29058778	68	5978											
TLR5	7100	genome.wustl.edu	37	chr1	223285782	223285782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaggctaaaaaaggagaGcgttttcccttgtaggggct	14	7	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:223285782G>A	ENST00000540964.1	-	4	1053	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	TLR5_ENST00000342210.6_Missense_Mutation_p.L198F			O60602	TLR5_HUMAN	toll-like receptor 5	198					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAAAGGAGAGCGTTTTCCCT	0.423																																																	0								ENSG00000187554						62	63	62					1																	223285782		2203	4300	6503	TLR5	SO:0001583	missense	0			-	HGNC		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.592C>T	1.37:g.223285782G>A	ENSP00000440643:p.Leu198Phe	Somatic	0	33	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP							pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L198F	ENST00000540964.1	37	c.592	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823526	0.02755	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.94537	-3.45;-3.45;-3.45	4.89	1.79	0.24919	.	0.165686	0.53938	N	0.000053	D	0.85102	0.5620	N	0.17922	0.545	0.20307	N	0.999913	B	0.02656	0.0	B	0.09377	0.004	T	0.68379	-0.5424	10	0.07813	T	0.8	.	7.1059	0.25362	0.5256:0.0:0.4744:0.0	.	198	O60602	TLR5_HUMAN	F	198	ENSP00000440643:L198F;ENSP00000355846:L198F;ENSP00000340089:L198F	ENSP00000340089:L198F	L	-	1	0	TLR5	221352405	0.459000	0.25768	0.030000	0.17652	0.021000	0.10359	0.784000	0.26816	0.500000	0.27991	0.655000	0.94253	CTC	-	NULL		0.423	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	protein_coding		G	NM_003268	-		223285782	-1	no_errors	ENST00000342210	ensembl	human	known	74_37	missense	SNP	0.254	A	A	223285782	G	A	223285782	3	1	102	1	0	0	0	0	1	0	0	0	15961	971	34	2	1988	2	TLR5	1	223285782	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3093939	223285782	25964839	69	5979											
TP53BP2	7159	genome.wustl.edu	37	chr1	223987656	223987656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcctcagagtaccaaagGaaggtggggcattggactgg	14	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:223987656G>A	ENST00000343537.7	-	11	1721	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S348F|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	471					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTACCAAAGGAAGGTGGGGC	0.428																																																	0								ENSG00000143514						156	134	141					1																	223987656		2203	4300	6503	TP53BP2	SO:0001583	missense	0			-	HGNC	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1430C>T	1.37:g.223987656G>A	ENSP00000341957:p.Ser477Phe	Somatic	0	83	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S477F	ENST00000343537.7	37	c.1430	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311260	0.10789	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.49720	0.77;0.94	5.83	4.9	0.64082	.	1.211010	0.05305	N	0.523603	T	0.42720	0.1215	L	0.36672	1.1	0.49915	D	0.999837	B;B	0.33448	0.412;0.26	B;B	0.32022	0.133;0.139	T	0.12941	-1.0528	10	0.62326	D	0.03	.	9.6444	0.39859	0.0:0.1545:0.6852:0.1603	.	477;471	B4DG66;Q13625	.;ASPP2_HUMAN	F	348;477	ENSP00000375750:S348F;ENSP00000341957:S477F	ENSP00000341957:S477F	S	-	2	0	TP53BP2	222054279	1.000000	0.71417	0.067000	0.19924	0.173000	0.22820	5.304000	0.65744	1.440000	0.47531	0.655000	0.94253	TCC	-	NULL		0.428	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	protein_coding	OTTHUMT00000090985.3	G	NM_001031685, NM_005426	-		223987656	-1	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	SNP	0.228	A	A	223987656	G	A	223987656	3	1	102	1	0	0	0	0	1	0	0	0	16391	1174	41	2	2006	2	TP53BP2	1	223987656	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	701874	223987656	25262965	70	5980											
PSEN2	5664	genome.wustl.edu	37	chr1	227071405	227071405	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacgatgtggtttcccacaGagaagccaggagaacgagga	13	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:227071405G>A	ENST00000366783.3	+	5	577		c.e5-1		PSEN2_ENST00000391872.2_Splice_Site|PSEN2_ENST00000340188.4_Splice_Site|PSEN2_ENST00000366782.1_Splice_Site|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000422240.2_Splice_Site	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2						amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTTTCCCACAGAGAAGCCAGG	0.577																																																	0								ENSG00000143801						39	37	38					1																	227071405		2203	4300	6503	PSEN2	SO:0001630	splice_region_variant	0			-	HGNC	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.142-1G>A	1.37:g.227071405G>A		Somatic	0	42	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	31.58	A8K8D4|B1AP21|Q96P32	Splice_Site	SNP							-	e3-1	ENST00000366783.3	37	c.241-1	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072923	0.76415	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0413	0.64676	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSEN2	225138028	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.926000	0.40084	2.462000	0.83206	0.650000	0.86243	.	-	-		0.577	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	protein_coding	OTTHUMT00000091539.1	G	NM_000447	-	Intron	227071405	1	no_errors	ENST00000391872	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	227071405	G	A	227071405	5	1	102	1	0	0	0	0	0	0	1	0	12656	956	33	2	147	2	PSEN2	1	227071405	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3083749	227071405	22179216	71	5981											
RYR2	6262	genome.wustl.edu	37	chr1	237863617	237863617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatctggagaagaccatgGaaaacctcaagcagggccag	13	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:237863617G>A	ENST00000366574.2	+	65	9534	c.9217G>A	c.(9217-9219)Gaa>Aaa	p.E3073K	RYR2_ENST00000542537.1_Missense_Mutation_p.E3057K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E3071K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3073					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGACCATGGAAAACCTCAA	0.498																																																	0								ENSG00000198626						44	43	43					1																	237863617		1931	4126	6057	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9217G>A	1.37:g.237863617G>A	ENSP00000355533:p.Glu3073Lys	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E3071K	ENST00000366574.2	37	c.9211	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.109674	0.94292	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.96830	-4.14;-4.11;-4.13	4.97	4.97	0.65823	.	0.000000	0.64402	U	0.000015	D	0.97052	0.9037	L	0.46741	1.465	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.96390	0.9288	10	0.33940	T	0.23	.	18.6031	0.91256	0.0:0.0:1.0:0.0	.	3073	Q92736	RYR2_HUMAN	K	3073;3071;3057;28;68	ENSP00000355533:E3073K;ENSP00000353174:E3071K;ENSP00000443798:E3057K	ENSP00000353174:E3071K	E	+	1	0	RYR2	235930240	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.963000	0.87922	2.449000	0.82847	0.557000	0.71058	GAA	-	NULL		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237863617	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	A	A	237863617	G	A	237863617	3	1	102	1	0	0	0	0	1	0	0	0	13777	1175	41	2	9475	2	RYR2	1	237863617	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	10792212	237863617	11387004	72	5982											
RYR2	6262	genome.wustl.edu	37	chr1	237948054	237948054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttagaggagatggggagGagggagagaggaaacccctg	20	4	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:237948054G>A	ENST00000366574.2	+	90	13359	c.13042G>A	c.(13042-13044)Gag>Aag	p.E4348K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4332K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E4354K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4348					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATGGGGAGGAGGGAGAGAG	0.542																																																	0								ENSG00000198626						57	58	58					1																	237948054		1924	4122	6046	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13042G>A	1.37:g.237948054G>A	ENSP00000355533:p.Glu4348Lys	Somatic	0	35	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E4354K	ENST00000366574.2	37	c.13060	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645545	0.47258	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93659	-3.26;-3.26;-3.26	5.32	3.42	0.39159	Ryanodine Receptor TM 4-6 (1);	0.261120	0.29884	N	0.010946	D	0.90099	0.6907	L	0.34521	1.04	0.58432	D	0.999999	P;B	0.46512	0.879;0.001	P;B	0.49477	0.612;0.005	D	0.85586	0.1243	10	0.23302	T	0.38	-7.6804	9.3727	0.38264	0.0722:0.2736:0.6542:0.0	.	1322;4348	B4DGV4;Q92736	.;RYR2_HUMAN	K	4348;4354;4332;1322	ENSP00000355533:E4348K;ENSP00000353174:E4354K;ENSP00000443798:E4332K	ENSP00000353174:E4354K	E	+	1	0	RYR2	236014677	1.000000	0.71417	0.496000	0.27539	0.735000	0.41995	6.578000	0.74032	0.786000	0.33708	0.650000	0.86243	GAG	-	pfam_Ryanrecept_TM4-6		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237948054	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	0.569	A	A	237948054	G	A	237948054	3	1	102	1	0	0	0	0	1	0	0	0	13777	1175	41	2	13400	2	RYR2	1	237948054	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	84437	237948054	11302567	73	5983											
OR11L1	391189	genome.wustl.edu	37	chr1	248004963	248004963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttggctaggagaaggGgcacagtggtggacgtgtac	19	6	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:248004963G>A	ENST00000355784.2	-	1	291	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAGGAGAAGGGGCACAGTGGT	0.592																																																	0								ENSG00000197591						74	63	67					1																	248004963		2203	4300	6503	OR11L1	SO:0001583	missense	0			-	HGNC	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.236C>T	1.37:g.248004963G>A	ENSP00000348033:p.Pro79Leu	Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P79L	ENST00000355784.2	37	c.236	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027607	0.75390	.	.	ENSG00000197591	ENST00000355784	T	0.01854	4.6	4.2	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002685	T	0.17492	0.0420	H	0.94503	3.545	0.53005	D	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.05402	-1.0887	10	0.87932	D	0	.	12.2744	0.54726	0.0851:0.0:0.9149:0.0	.	79	Q8NGX0	O11L1_HUMAN	L	79	ENSP00000348033:P79L	ENSP00000348033:P79L	P	-	2	0	OR11L1	246071586	1.000000	0.71417	0.933000	0.37362	0.951000	0.60555	5.544000	0.67231	1.110000	0.41699	0.543000	0.68304	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	protein_coding	OTTHUMT00000096850.1	G	NM_001001959	-		248004963	-1	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	SNP	1.000	A	A	248004963	G	A	248004963	3	1	102	1	0	0	0	0	1	0	0	0	10932	1232	43	2	736	2	OR11L1	1	248004963	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	10056909	248004963	1245658	74	5984											
OR2L2	26246	genome.wustl.edu	37	chr1	248202181	248202181	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtttttgagcagcaccatCtttcttgtgcttcctttcac	7	11	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:248202181C>T	ENST00000366479.2	+	1	708	c.612C>T	c.(610-612)atC>atT	p.I204I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GCAGCACCATCTTTCTTGTGC	0.483																																																	0								ENSG00000203663						313	270	285					1																	248202181		2203	4300	6503	OR2L2	SO:0001819	synonymous_variant	0			-	HGNC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.612C>T	1.37:g.248202181C>T		Somatic	0	143	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	Q2M3T5	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I204	ENST00000366479.2	37	c.612	CCDS31103.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	protein_coding	OTTHUMT00000096871.1	C	NM_001004686	-		248202181	1	no_errors	ENST00000366479	ensembl	human	known	74_37	silent	SNP	0.000	T	T	248202181	C	T	248202181	2	4	102	1	0	0	0	0	0	0	0	1	11009	903	32	2		2	OR2L2	1	248202181	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	197218	248202181	1048440	75	5985											
OR2L3	391192	genome.wustl.edu	37	chr1	248224295	248224295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagagtttcttcttctcGgcattaggaggtgcagaagc	11	8	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:248224295G>A	ENST00000359959.3	+	1	312	c.312G>A	c.(310-312)tcG>tcA	p.S104S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	104			S -> L (in dbSNP:rs6658256).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			TCTTCTTCTCGGCATTAGGAG	0.433																																																	0								ENSG00000198128						197	240	225					1																	248224295		2203	4300	6503	OR2L3	SO:0001819	synonymous_variant	0			-	HGNC	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.312G>A	1.37:g.248224295G>A		Somatic	0	130	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	61	30.68	B9EH44	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S104	ENST00000359959.3	37	c.312	CCDS31104.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	protein_coding	OTTHUMT00000096852.1	G	NM_001004687	-		248224295	1	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	SNP	0.000	A	A	248224295	G	A	248224295	2	1	102	1	0	0	0	0	0	0	0	1	11010	1103	39	1		1	OR2L3	1	248224295	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	22114	248224295	1026326	76	5986											
SNTG2	54221	genome.wustl.edu	37	chr2	1079275	1079275	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacatccggctgaagctgacGaaagaggtgctgacaattca	12	9	1	4	rs375588833		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:1079275G>A	ENST00000308624.5	+	2	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_ENST00000407292.1_Silent_p.T48T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	48					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468																																																	0								ENSG00000172554						124	123	123					2																	1079275		2005	4178	6183	SNTG2	SO:0001819	synonymous_variant	0			-	HGNC	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.144G>A	2.37:g.1079275G>A		Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q05AH5	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T48	ENST00000308624.5	37	c.144	CCDS46220.1	2																																																																																			-	superfamily_PDZ		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	protein_coding	OTTHUMT00000322454.1	G	NM_018968	-		1079275	1	no_errors	ENST00000308624	ensembl	human	known	74_37	silent	SNP	0.547	A	A	1079275	G	A	1079275	2	1	102	1	0	0	0	0	0	0	0	1	14883	1045	37	1		1	SNTG2	2	1079275	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		1079275	242120098	77	5987											
PXDN	7837	genome.wustl.edu	37	chr2	1658278	1658278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatttcgactgacgtcagGaactaggaaaatacaaagtc	8	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:1658278G>A	ENST00000252804.4	-	15	1890	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	614					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGACGTCAGGAACTAGGAAA	0.413																																																	0								ENSG00000130508						75	71	72					2																	1658278		1930	4126	6056	PXDN	SO:0001583	missense	0			-	HGNC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1840C>T	2.37:g.1658278G>A	ENSP00000252804:p.Pro614Ser	Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P614S	ENST00000252804.4	37	c.1840	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433908	0.25813	.	.	ENSG00000130508	ENST00000252804	T	0.79940	-1.32	5.4	5.4	0.78164	.	0.055312	0.64402	D	0.000001	T	0.69620	0.3131	N	0.19112	0.55	0.54753	D	0.99998	B;B	0.20550	0.046;0.011	B;B	0.19946	0.027;0.016	T	0.64381	-0.6421	10	0.13108	T	0.6	-21.6144	19.2199	0.93791	0.0:0.0:1.0:0.0	.	614;614	Q92626-2;Q92626	.;PXDN_HUMAN	S	614	ENSP00000252804:P614S	ENSP00000252804:P614S	P	-	1	0	PXDN	1637285	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.142000	0.71750	2.555000	0.86185	0.478000	0.44815	CCT	-	NULL		0.413	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	protein_coding	OTTHUMT00000322505.1	G	XM_056455	-		1658278	-1	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1658278	G	A	1658278	3	1	102	1	0	0	0	0	1	0	0	0	12855	1174	41	2	2635	2	PXDN	2	1658278	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	579003	1658278	241541095	78	5988											
KIDINS220	57498	genome.wustl.edu	37	chr2	8946487	8946487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcagcccaaactaaagGggtggttccatactattaaa	9	9	0	0	rs374716369		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:8946487G>A	ENST00000256707.3	-	7	698	c.517C>T	c.(517-519)Cct>Tct	p.P173S	KIDINS220_ENST00000319688.5_Missense_Mutation_p.P174S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P131S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P173S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P173S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	173					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)			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)					CAAACTAAAGGGGTGGTTCCA	0.313													G|||	1	0.000199681	8e-04	0	5008	,	,		13859	0		0	False		,,,				2504	0																0								ENSG00000134313	G	SER/PRO	3,3605		0,3,1801	135	128	130		517	5.1	1	2		130	0,8154		0,0,4077	no	missense	KIDINS220	NM_020738.2	74	0,3,5878	AA,AG,GG		0.0,0.0831,0.0255	probably-damaging	173/1772	8946487	3,11759	1804	4077	5881	KIDINS220	SO:0001583	missense	0			-	HGNC	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.517C>T	2.37:g.8946487G>A	ENSP00000256707:p.Pro173Ser	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP							pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P173S	ENST00000256707.3	37	c.517	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717441	0.68844	8.31E-4	0.0	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.09	5.09	0.68999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.995;0.995;1.0	D	0.86609	0.1871	10	0.72032	D	0.01	.	18.8567	0.92255	0.0:0.0:1.0:0.0	.	174;131;173	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	S	173;173;131;173;174;174	ENSP00000256707:P173S;ENSP00000411849:P173S;ENSP00000414923:P131S;ENSP00000418974:P173S;ENSP00000419964:P174S;ENSP00000319947:P174S	ENSP00000256707:P173S	P	-	1	0	KIDINS220	8863938	1.000000	0.71417	0.995000	0.50966	0.399000	0.30720	6.194000	0.72082	2.549000	0.85964	0.484000	0.47621	CCT	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.313	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	G	NM_020738	-		8946487	-1	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8946487	G	A	8946487	3	1	102	1	0	0	0	0	1	0	0	0	8273	1232	43	2	4894	2	KIDINS220	2	8946487	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7288209	8946487	234252886	79	5989											
APOB	338	genome.wustl.edu	37	chr2	21238125	21238125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccattcaaattcaatcttCtcttcatctgaaaatacgta	2	10	6	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:21238125C>T	ENST00000233242.1	-	23	3643	c.3516G>A	c.(3514-3516)gaG>gaA	p.E1172E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1172					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)					ATTCAATCTTCTCTTCATCTG	0.403																																																	0								ENSG00000084674						102	96	98					2																	21238125		2203	4300	6503	APOB	SO:0001819	synonymous_variant	0			-	HGNC	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.3516G>A	2.37:g.21238125C>T		Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E1172	ENST00000233242.1	37	c.3516	CCDS1703.1	2																																																																																			-	NULL		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21238125	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	SNP	0.991	T	T	21238125	C	T	21238125	2	4	102	1	0	0	0	0	0	0	0	1	785	912	32	2		2	APOB	2	21238125	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	12291638	21238125	221961248	80	5990											
APOB	338	genome.wustl.edu	37	chr2	21246479	21246479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgcaactgtaatccagctCcagtggggagttcaaaggca	11	9	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:21246479C>T	ENST00000233242.1	-	17	2649	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	841					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)					TAATCCAGCTCCAGTGGGGAG	0.453																																																	0								ENSG00000084674						96	90	92					2																	21246479		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.2522G>A	2.37:g.21246479C>T	ENSP00000233242:p.Gly841Glu	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G841E	ENST00000233242.1	37	c.2522	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175998	0.57692	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.16743	2.32	5.35	5.35	0.76521	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.000000	0.64402	D	0.000018	T	0.47266	0.1436	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.49123	-0.8972	10	0.72032	D	0.01	.	19.4462	0.94847	0.0:1.0:0.0:0.0	.	841	P04114	APOB_HUMAN	E	841	ENSP00000233242:G841E	ENSP00000233242:G841E	G	-	2	0	APOB	21099984	0.983000	0.35010	0.830000	0.32933	0.340000	0.28889	3.746000	0.55127	2.675000	0.91044	0.655000	0.94253	GGA	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21246479	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.966	T	T	21246479	C	T	21246479	3	4	102	1	0	0	0	0	1	0	0	0	785	855	30	2	11221	2	APOB	2	21246479	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8354	21246479	221952894	81	5991											
ATAD2B	54454	genome.wustl.edu	37	chr2	24051782	24051782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttggattccagtccctggTatggatctgtaagatgtgtt	11	6	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:24051782T>A	ENST00000238789.5	-	15	2099	c.1756A>T	c.(1756-1758)Acc>Tcc	p.T586S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	586						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTCCCTGGTATGGATCTGT	0.343																																																	0								ENSG00000119778						119	111	114					2																	24051782		1838	4082	5920	ATAD2B	SO:0001583	missense	0			-	HGNC	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1756A>T	2.37:g.24051782T>A	ENSP00000238789:p.Thr586Ser	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.T586S	ENST00000238789.5	37	c.1756	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	T	25.3	4.618896	0.87460	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.94862	-3.54;-2.29	4.7	4.7	0.59300	.	.	.	.	.	D	0.95417	0.8512	L	0.48362	1.52	0.58432	D	0.999996	D	0.60160	0.987	D	0.63113	0.911	D	0.95826	0.8854	9	0.66056	D	0.02	.	14.8793	0.70519	0.0:0.0:0.0:1.0	.	586	Q9ULI0	ATD2B_HUMAN	S	586;24	ENSP00000238789:T586S;ENSP00000392764:T24S	ENSP00000238789:T586S	T	-	1	0	ATAD2B	23905286	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.950000	0.87804	2.063000	0.61619	0.528000	0.53228	ACC	-	superfamily_P-loop_NTPase		0.343	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	protein_coding	OTTHUMT00000324333.1	T	NM_017552	-		24051782	-1	no_errors	ENST00000238789	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24051782	T	A	24051782	3	1	102	1	0	0	0	0	1	0	0	0	1072	1638	57	5	2676	5	ATAD2B	2	24051782	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	2805303	24051782	219147591	82	5992											
FAM179A	165186	genome.wustl.edu	37	chr2	29274679	29274679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagagcggcatgtccttcCcatcctctggcacttcctga	9	14	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:29274679C>T	ENST00000379558.4	+	20	3131	c.2780C>T	c.(2779-2781)cCc>cTc	p.P927L	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.P872L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	927										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATGTCCTTCCCATCCTCTGG	0.622																																																	0								ENSG00000189350						17	19	19					2																	29274679		2061	4202	6263	FAM179A	SO:0001583	missense	0			-	HGNC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2780C>T	2.37:g.29274679C>T	ENSP00000368876:p.Pro927Leu	Somatic	0	182	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	58	28.92	Q6ZUF5	Missense_Mutation	SNP							pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.P927L	ENST00000379558.4	37	c.2780	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292100	0.80914	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.69685	-0.42;-0.42	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.090134	0.49305	D	0.000156	T	0.79913	0.4528	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76377	-0.2981	10	0.34782	T	0.22	.	19.3719	0.94492	0.0:1.0:0.0:0.0	.	872;927	F8W8E4;Q6ZUX3	.;F179A_HUMAN	L	927;872	ENSP00000368876:P927L;ENSP00000384699:P872L	ENSP00000368876:P927L	P	+	2	0	FAM179A	29128183	0.997000	0.39634	0.891000	0.34965	0.419000	0.31324	5.946000	0.70234	2.698000	0.92095	0.650000	0.86243	CCC	-	superfamily_ARM-type_fold		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	protein_coding	OTTHUMT00000317848.4	C	NM_199280	-		29274679	1	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	SNP	0.998	T	T	29274679	C	T	29274679	3	4	102	1	0	0	0	0	1	0	0	0	5507	623	22	2	2854	2	FAM179A	2	29274679	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5222897	29274679	213924694	83	5993											
LTBP1	4052	genome.wustl.edu	37	chr2	33525536	33525536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatattgatgaatgtcagcAagggaatctatgtgtaaacg	11	4	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:33525536A>C	ENST00000404816.2	+	21	3607	c.3254A>C	c.(3253-3255)cAa>cCa	p.Q1085P	LTBP1_ENST00000272273.5_Missense_Mutation_p.Q25P|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q706P|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q760P|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1086P|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q759P|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q706P|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q759P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1085	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGTCAGCAAGGGAATCTA	0.483																																																	0								ENSG00000049323						109	110	110					2																	33525536		2203	4300	6503	LTBP1	SO:0001583	missense	0			-	HGNC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3254A>C	2.37:g.33525536A>C	ENSP00000386043:p.Gln1085Pro	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q1086P	ENST00000404816.2	37	c.3257	CCDS33177.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.08|11.08	1.534365|1.534365	0.27475|0.27475	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000415140|ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	.|D;D;D;D;D;D;D;D	.|0.92348	.|-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	5.39|5.39	4.16|4.16	0.48862|0.48862	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	D|D	0.86460|0.86460	0.5938|0.5938	N|N	0.17312|0.17312	0.475|0.475	0.31777|0.31777	N|N	0.631366|0.631366	.|B;P;P;B;B;P;P	.|0.38455	.|0.047;0.495;0.632;0.278;0.446;0.579;0.572	.|B;B;B;B;B;B;P	.|0.45971	.|0.084;0.366;0.26;0.15;0.169;0.169;0.499	D|D	0.84310|0.84310	0.0510|0.0510	5|9	.|0.33141	.|T	.|0.24	.|.	6.017|6.017	0.19608|0.19608	0.7491:0.1667:0.0842:0.0|0.7491:0.1667:0.0842:0.0	.|.	.|25;1085;759;706;759;760;1086	.|E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.|.;LTBP1_HUMAN;.;.;.;.;.	Q|P	47|1085;1086;760;759;706;706;759;25	.|ENSP00000386043:Q1085P;ENSP00000346467:Q1086P;ENSP00000374653:Q760P;ENSP00000393057:Q759P;ENSP00000384373:Q706P;ENSP00000385359:Q706P;ENSP00000384091:Q759P;ENSP00000272273:Q25P	.|ENSP00000272273:Q25P	K|Q	+|+	1|2	0|0	LTBP1|LTBP1	33379040|33379040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	1.874000|1.874000	0.39568|0.39568	2.049000|2.049000	0.60858|0.60858	0.454000|0.454000	0.30748|0.30748	AAG|CAA	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	A	NM_206943	-		33525536	1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33525536	A	C	33525536	3	2	102	1	0	0	0	0	1	0	0	0	9075	130	5	5	3391	5	LTBP1	2	33525536	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	4250857	33525536	209673837	84	5994											
FSHR	2492	genome.wustl.edu	37	chr2	49190277	49190277	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcactagaggaggacacGatgttggggttccgcactgt	15	8	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:49190277G>A	ENST00000406846.2	-	10	1802	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	FSHR_ENST00000541117.1_Silent_p.I297I|FSHR_ENST00000304421.4_Silent_p.I535I|FSHR_ENST00000346173.3_Silent_p.I499I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	561					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.I561I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGGAGGACACGATGTTGGGGT	0.517									Gonadal Dysgenesis, 46 XX																																								1	Substitution - coding silent(1)	endometrium(1)						ENSG00000170820						112	93	99					2																	49190277		2203	4300	6503	FSHR	SO:0001819	synonymous_variant	0	Familial Cancer Database		-	HGNC		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1683C>T	2.37:g.49190277G>A		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.I561	ENST00000406846.2	37	c.1683	CCDS1843.1	2																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	protein_coding	OTTHUMT00000251367.2	G		-		49190277	-1	no_errors	ENST00000406846	ensembl	human	known	74_37	silent	SNP	0.280	A	A	49190277	G	A	49190277	2	1	102	1	0	0	0	0	0	0	0	1	6075	1048	37	1		1	FSHR	2	49190277	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	15664741	49190277	194009096	85	5995											
PNPT1	87178	genome.wustl.edu	37	chr2	55887311	55887311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtagtgcagcatgaaaTttttatcttttatcccacta	5	10	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:55887311T>C	ENST00000447944.2	-	15	1351	c.1265A>G	c.(1264-1266)aAt>aGt	p.N422S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	422					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCATGAAATTTTTATCTTT	0.284																																																	0								ENSG00000138035						16	17	17					2																	55887311		2157	4260	6417	PNPT1	SO:0001583	missense	0			-	HGNC	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1265A>G	2.37:g.55887311T>C	ENSP00000400646:p.Asn422Ser	Somatic	1	191	0.52		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	71	26.04	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP							pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.N422S	ENST00000447944.2	37	c.1265	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493077	0.64186	.	.	ENSG00000138035	ENST00000447944	D	0.81996	-1.56	5.62	5.62	0.85841	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	L	0.45581	1.43	0.58432	D	0.999998	P	0.39003	0.654	P	0.51055	0.657	D	0.84928	0.0858	10	0.44086	T	0.13	-17.0984	15.2977	0.73922	0.0:0.0:0.0:1.0	.	422	Q8TCS8	PNPT1_HUMAN	S	422	ENSP00000400646:N422S	ENSP00000386075:N422S	N	-	2	0	PNPT1	55740815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.885000	0.69736	2.266000	0.75297	0.533000	0.62120	AAT	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase		0.284	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	protein_coding	OTTHUMT00000251481.2	T	NM_033109	-		55887311	-1	no_errors	ENST00000415374	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55887311	T	C	55887311	3	2	102	1	0	0	0	0	1	0	0	0	12175	1493	52	5	1142	5	PNPT1	2	55887311	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	6697034	55887311	187312062	86	5996											
SPRED2	200734	genome.wustl.edu	37	chr2	65541002	65541002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcctccttccgccgccgcGacttgccccgggagggctgc	13	19	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:65541002G>A	ENST00000356388.4	-	6	1079	c.890C>T	c.(889-891)tCg>tTg	p.S297L	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.S294L	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	297					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S297L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGCCGCCGCGACTTGCCCCG	0.677																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000198369						44	50	48					2																	65541002		2202	4298	6500	SPRED2	SO:0001583	missense	0			-	HGNC	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.890C>T	2.37:g.65541002G>A	ENSP00000348753:p.Ser297Leu	Somatic	0	90	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP							pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.S297L	ENST00000356388.4	37	c.890	CCDS33211.1	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949414	0.53186	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.78003	-1.14;-1.13;-1.14;-0.14	5.75	3.81	0.43845	.	0.287715	0.33110	N	0.005275	T	0.76637	0.4015	M	0.71581	2.175	0.36141	D	0.846799	B;B	0.13145	0.007;0.006	B;B	0.06405	0.002;0.002	T	0.78927	-0.2011	10	0.48119	T	0.1	-7.7818	15.7879	0.78322	0.0:0.2573:0.7427:0.0	.	294;297	E9PEP0;Q7Z698	.;SPRE2_HUMAN	L	297;294;312;179	ENSP00000348753:S297L;ENSP00000393697:S294L;ENSP00000390595:S312L;ENSP00000407627:S179L	ENSP00000348753:S297L	S	-	2	0	SPRED2	65394506	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	2.893000	0.48633	1.395000	0.46643	0.655000	0.94253	TCG	-	NULL		0.677	SPRED2-001	KNOWN	basic|CCDS	protein_coding	SPRED2	protein_coding	OTTHUMT00000327632.1	G		-		65541002	-1	no_errors	ENST00000356388	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65541002	G	A	65541002	3	1	102	1	0	0	0	0	1	0	0	0	15100	1059	37	1	370	1	SPRED2	2	65541002	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9653691	65541002	177658371	87	5997											
CLEC4F	165530	genome.wustl.edu	37	chr2	71043961	71043961	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttttcaaggtcttcCttgagcctctggatctcagc	8	13	5	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:71043961C>G	ENST00000272367.2	-	4	628	c.552G>C	c.(550-552)aaG>aaC	p.K184N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.K184N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	184					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAAGGTCTTCCTTGAGCCTCT	0.443																																					Colon(107;10 2157 6841 26035)												0								ENSG00000152672						111	102	105					2																	71043961		2203	4300	6503	CLEC4F	SO:0001583	missense	0			-	HGNC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.552G>C	2.37:g.71043961C>G	ENSP00000272367:p.Lys184Asn	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	A4QPA5	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.K184N	ENST00000272367.2	37	c.552	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	C	3.816	-0.038799	0.07497	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.51574	0.7;0.7	4.06	-4.57	0.03421	.	0.483859	0.17323	N	0.178412	T	0.36608	0.0973	M	0.66939	2.045	0.09310	N	1	B;B	0.26120	0.142;0.142	B;B	0.18263	0.021;0.021	T	0.27640	-1.0068	10	0.72032	D	0.01	.	6.5106	0.22220	0.1431:0.1949:0.0:0.662	.	184;184	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	184	ENSP00000272367:K184N;ENSP00000390581:K184N	ENSP00000272367:K184N	K	-	3	2	CLEC4F	70897469	0.000000	0.05858	0.004000	0.12327	0.152000	0.21847	-0.545000	0.06069	-0.872000	0.04037	-0.350000	0.07774	AAG	-	superfamily_Prefoldin		0.443	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	protein_coding	OTTHUMT00000251922.1	C	NM_173535	-		71043961	-1	no_errors	ENST00000272367	ensembl	human	known	74_37	missense	SNP	0.001	G	G	71043961	C	G	71043961	3	3	102	1	0	0	0	0	1	0	0	0	3518	680	24	4	1233	4	CLEC4F	2	71043961	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5502959	71043961	172155412	88	5998											
ZNF638	27332	genome.wustl.edu	37	chr2	71650322	71650322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagcattgttaccatcTgacagtgtgtttgcagaaga	9	7	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:71650322T>C	ENST00000409544.1	+	22	4308	c.3678T>C	c.(3676-3678)tcT>tcC	p.S1226S	ZNF638_ENST00000409407.1_Silent_p.S166S|ZNF638_ENST00000264447.4_Silent_p.S1226S|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1226	Glu-rich.				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						TGTTACCATCTGACAGTGTGT	0.388																																																	0								ENSG00000075292						79	80	80					2																	71650322		2203	4300	6503	ZNF638	SO:0001819	synonymous_variant	0			-	HGNC	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.3678T>C	2.37:g.71650322T>C		Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP							pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.S1226	ENST00000409544.1	37	c.3678	CCDS1917.1	2																																																																																			-	NULL		0.388	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	T	NM_014497	-		71650322	1	no_errors	ENST00000264447	ensembl	human	known	74_37	silent	SNP	0.017	C	C	71650322	T	C	71650322	2	2	102	1	0	0	0	0	0	0	0	1	18062	1567	55	5		5	ZNF638	2	71650322	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	606361	71650322	171549051	89	5999											
TET3	200424	genome.wustl.edu	37	chr2	74274129	74274129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgccattgccattgaggCcctcacacagctctcctctg	8	17	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:74274129C>T	ENST00000409262.3	+	1	680	c.680C>T	c.(679-681)gCc>gTc	p.A227V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	227					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCATTGAGGCCCTCACACAG	0.607																																																	0								ENSG00000187605						45	49	48					2																	74274129		2095	4215	6310	TET3	SO:0001583	missense	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.680C>T	2.37:g.74274129C>T	ENSP00000386869:p.Ala227Val	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP							NULL	p.A227V	ENST00000409262.3	37	c.680	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380143	0.82682	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.55413	0.52;1.58	5.84	5.84	0.93424	.	.	.	.	.	T	0.61540	0.2355	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.64740	-0.6336	9	0.62326	D	0.03	.	18.8993	0.92435	0.0:1.0:0.0:0.0	.	227	O43151	TET3_HUMAN	V	269;227;227	ENSP00000307803:A269V;ENSP00000386869:A227V	ENSP00000233310:A227V	A	+	2	0	TET3	74127637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.188000	0.77739	2.768000	0.95171	0.561000	0.74099	GCC	-	NULL		0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	C		-		74274129	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74274129	C	T	74274129	3	4	102	1	0	0	0	0	1	0	0	0	15778	739	26	2	682	2	TET3	2	74274129	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2623807	74274129	168925244	90	6000											
HK2	3099	genome.wustl.edu	37	chr2	75094807	75094807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttggagggaccaacttcCgtgtgctttgggtgaaagta	13	7	1	1	rs371320494		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:75094807C>T	ENST00000290573.2	+	3	871	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	HK2_ENST00000409174.1_Missense_Mutation_p.R63C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	91	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R91S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACCAACTTCCGTGTGCTTTG	0.507																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000159399	C	CYS/ARG	0,4406		0,0,2203	258	267	264		271	4.5	1	2		264	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK2	NM_000189.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	91/918	75094807	1,13005	2203	4300	6503	HK2	SO:0001583	missense	0			-	HGNC		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.271C>T	2.37:g.75094807C>T	ENSP00000290573:p.Arg91Cys	Somatic	0	116	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	58	15.94	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R91C	ENST00000290573.2	37	c.271	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205023	0.79127	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99488	-6.0;-6.0	5.34	4.47	0.54385	Hexokinase, N-terminal (1);	0.050333	0.85682	N	0.000000	D	0.99345	0.9770	H	0.98738	4.315	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	D	0.99297	1.0900	10	0.87932	D	0	-13.8452	11.796	0.52100	0.0:0.9158:0.0:0.0842	.	91	P52789	HXK2_HUMAN	C	91;91;63	ENSP00000290573:R91C;ENSP00000387140:R63C	ENSP00000290573:R91C	R	+	1	0	HK2	74948315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.059000	0.49947	1.500000	0.48636	0.655000	0.94253	CGT	-	pfam_Hexokinase_N		0.507	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	protein_coding	OTTHUMT00000252238.2	C	NM_000189	-		75094807	1	no_errors	ENST00000290573	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75094807	C	T	75094807	3	4	102	1	0	0	0	0	1	0	0	0	7193	652	23	1	281	1	HK2	2	75094807	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	820678	75094807	168104566	91	6001											
TACR1	6869	genome.wustl.edu	37	chr2	75425870	75425870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatagttcgtcactgtcCtcattcttttgtgggctaag	9	8	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:75425870C>T	ENST00000305249.5	-	1	956	c.191G>A	c.(190-192)aGg>aAg	p.R64K	TACR1_ENST00000409848.3_Missense_Mutation_p.R64K	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	64					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CGTCACTGTCCTCATTCTTTT	0.507																																					Pancreas(64;62 1268 3653 14826 43765)												0								ENSG00000115353						168	140	150					2																	75425870		2203	4300	6503	TACR1	SO:0001583	missense	0			-	HGNC	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.191G>A	2.37:g.75425870C>T	ENSP00000303522:p.Arg64Lys	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A8K150	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.R64K	ENST00000305249.5	37	c.191	CCDS1958.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.373414	0.95923	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.40225	1.04;1.04	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.73753	2.245	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.64879	-0.6303	10	0.52906	T	0.07	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	64	P25103	NK1R_HUMAN	K	64	ENSP00000303522:R64K;ENSP00000386448:R64K	ENSP00000303522:R64K	R	-	2	0	TACR1	75279378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	2.854000	0.98071	0.655000	0.94253	AGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.507	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	protein_coding	OTTHUMT00000252239.3	C	NM_001058	-		75425870	-1	no_errors	ENST00000305249	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75425870	C	T	75425870	3	4	102	1	0	0	0	0	1	0	0	0	15512	681	24	2	1056	2	TACR1	2	75425870	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	331063	75425870	167773503	92	6002											
LRRTM4	80059	genome.wustl.edu	37	chr2	77745775	77745775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgccaggaatctgaaacCctggggaagggcttggtgtt	15	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:77745775C>T	ENST00000409093.1	-	3	1556	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	LRRTM4_ENST00000409911.1_Missense_Mutation_p.G408E|LRRTM4_ENST00000409088.3_Missense_Mutation_p.G407E|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G408E|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G407E			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	407					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCTGAAACCCTGGGGAAGG	0.498																																																	0								ENSG00000176204						113	111	112					2																	77745775		1888	4111	5999	LRRTM4	SO:0001583	missense	0			-	HGNC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1220G>A	2.37:g.77745775C>T	ENSP00000386357:p.Gly407Glu	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G408E	ENST00000409093.1	37	c.1223	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313186	0.23908	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.46	4.53	0.55603	.	0.414454	0.28555	N	0.014927	T	0.49253	0.1546	N	0.14661	0.345	0.31749	N	0.634796	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.47573	-0.9107	10	0.02654	T	1	.	7.4143	0.27036	0.0:0.609:0.304:0.087	.	408;407;407	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	E	408;407;407;407;408	ENSP00000387228:G408E;ENSP00000387297:G407E;ENSP00000386357:G407E;ENSP00000386236:G407E;ENSP00000386286:G408E	ENSP00000386236:G407E	G	-	2	0	LRRTM4	77599283	0.170000	0.23016	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.552000	0.86080	0.655000	0.94253	GGG	-	NULL		0.498	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	protein_coding	OTTHUMT00000328225.1	C	NM_024993	-		77745775	-1	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77745775	C	T	77745775	3	4	102	1	0	0	0	0	1	0	0	0	9044	623	22	2	566	2	LRRTM4	2	77745775	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2319905	77745775	165453598	93	6003											
TCF7L1	83439	genome.wustl.edu	37	chr2	85510652	85510652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcccctcctcgatgtccCctccagcgccacagtcaagg	9	18	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:85510652C>T	ENST00000282111.3	+	4	751	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	159	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTCGATGTCCCCTCCAGCGCC	0.507																																																	0								ENSG00000152284						259	225	237					2																	85510652		2203	4300	6503	TCF7L1	SO:0001583	missense	0			-	HGNC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.476C>T	2.37:g.85510652C>T	ENSP00000282111:p.Pro159Leu	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP							pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P159L	ENST00000282111.3	37	c.476	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167965	0.57476	.	.	ENSG00000152284	ENST00000282111;ENST00000442813	D	0.98602	-5.02	5.3	5.3	0.74995	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98409	0.9471	L	0.53249	1.67	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	D	0.99246	1.0886	10	0.72032	D	0.01	.	14.4663	0.67485	0.0:1.0:0.0:0.0	.	159	Q9HCS4	TF7L1_HUMAN	L	159;9	ENSP00000282111:P159L	ENSP00000282111:P159L	P	+	2	0	TCF7L1	85364163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.083000	0.57643	2.472000	0.83506	0.655000	0.94253	CCC	-	pfam_CTNNB1-bd_N		0.507	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	protein_coding	OTTHUMT00000252301.2	C	NM_031283	-		85510652	1	no_errors	ENST00000282111	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85510652	C	T	85510652	3	4	102	1	0	0	0	0	1	0	0	0	15704	623	22	2	490	2	TCF7L1	2	85510652	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	7764877	85510652	157688721	94	6004											
ZAP70	7535	genome.wustl.edu	37	chr2	98340581	98340581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcacctgaagctggcgGgcatggcggacgggctcttc	17	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:98340581G>A	ENST00000264972.5	+	3	297	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	28	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GAAGCTGGCGGGCATGGCGGA	0.687																																																	0								ENSG00000115085						11	11	11					2																	98340581		2170	4259	6429	ZAP70	SO:0001583	missense	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.82G>A	2.37:g.98340581G>A	ENSP00000264972:p.Gly28Ser	Somatic	0	125	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	43	31.75	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G28S	ENST00000264972.5	37	c.82	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.065292	0.93898	.	.	ENSG00000115085	ENST00000264972	T	0.31510	1.49	4.82	4.82	0.62117	SH2 motif (4);	0.000000	0.51477	D	0.000094	T	0.53658	0.1810	M	0.80847	2.515	0.80722	D	1	D;D	0.59767	0.974;0.986	P;P	0.60682	0.782;0.878	T	0.55302	-0.8162	10	0.38643	T	0.18	.	15.7857	0.78300	0.0:0.0:1.0:0.0	.	28;28	B4E0E2;P43403	.;ZAP70_HUMAN	S	28	ENSP00000264972:G28S	ENSP00000264972:G28S	G	+	1	0	ZAP70	97707013	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.433000	0.97501	2.421000	0.82119	0.460000	0.39030	GGC	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	G		-		98340581	1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98340581	G	A	98340581	3	1	102	1	0	0	0	0	1	0	0	0	17521	1232	43	2	84	2	ZAP70	2	98340581	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12829929	98340581	144858792	95	6005											
TMEM131	23505	genome.wustl.edu	37	chr2	98421592	98421592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctgtccatcccttgaaCaggctttgatgcaaatccca	6	13	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:98421592C>T	ENST00000186436.5	-	22	2589	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	787						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATCCCTTGAACAGGCTTTGAT	0.393																																																	0								ENSG00000075568						74	72	73					2																	98421592		1924	4150	6074	TMEM131	SO:0001819	synonymous_variant	0			-	HGNC	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2361G>A	2.37:g.98421592C>T		Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Silent	SNP							pfam_DUF3651_TMEM131	p.L787	ENST00000186436.5	37	c.2361	CCDS46368.1	2																																																																																			-	NULL		0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	protein_coding	OTTHUMT00000329285.2	C	XM_371542	-		98421592	-1	no_errors	ENST00000186436	ensembl	human	known	74_37	silent	SNP	0.653	T	T	98421592	C	T	98421592	2	4	102	1	0	0	0	0	0	0	0	1	16051	465	17	2		2	TMEM131	2	98421592	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	81011	98421592	144777781	96	6006											
IL18R1	8809	genome.wustl.edu	37	chr2	103003460	103003460	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatcttggtgagaaaaGgtgagaaagatttatttttg	11	3	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:103003460G>A	ENST00000409599.1	+	9	1305	c.949G>A	c.(949-951)Gca>Aca	p.A317T	IL18R1_ENST00000233957.1_Splice_Site_p.A317T			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	317			Missing. {ECO:0000269|PubMed:8626725}.		immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGAGAAAAGGTGAGAAAGA	0.383																																																	0								ENSG00000115604						97	100	99					2																	103003460		2203	4300	6503	IL18R1	SO:0001630	splice_region_variant	0			-	HGNC	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.949+1G>A	2.37:g.103003460G>A		Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B2R9Y5|Q52LC9	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	p.A317T	ENST00000409599.1	37	c.949	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578829	0.13686	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.01560	4.77;4.77;4.77	4.66	2.84	0.33178	.	1.312560	0.05628	N	0.581154	T	0.01558	0.0050	N	0.19112	0.55	0.80722	D	1	B	0.29716	0.255	B	0.26614	0.071	T	0.49485	-0.8935	10	0.15066	T	0.55	.	7.4274	0.27107	0.2002:0.0:0.7998:0.0	.	317	Q13478	IL18R_HUMAN	T	317	ENSP00000386663:A317T;ENSP00000387211:A317T;ENSP00000233957:A317T	ENSP00000233957:A317T	A	+	1	0	IL18R1	102369892	1.000000	0.71417	0.972000	0.41901	0.459000	0.32528	1.973000	0.40550	0.691000	0.31592	0.561000	0.74099	GCA	-	NULL		0.383	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	protein_coding	OTTHUMT00000253294.2	G	NM_003855	-	Missense_Mutation	103003460	1	no_errors	ENST00000233957	ensembl	human	known	74_37	missense	SNP	0.994	A	A	103003460	G	A	103003460	5	1	102	1	0	0	0	0	0	0	1	0	7649	1014	35	2	975	2	IL18R1	2	103003460	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4581868	103003460	140195913	97	6007											
SLC9A4	389015	genome.wustl.edu	37	chr2	103148903	103148903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaatgaagagcctacacaGaggaaggaaggcattcagct	11	9	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:103148903G>A	ENST00000295269.4	+	12	2610	c.2153G>A	c.(2152-2154)aGa>aAa	p.R718K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	718					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCCTACACAGAGGAAGGAAG	0.478																																																	0								ENSG00000180251						90	81	84					2																	103148903		2203	4300	6503	SLC9A4	SO:0001583	missense	0			-	HGNC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2153G>A	2.37:g.103148903G>A	ENSP00000295269:p.Arg718Lys	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	Q69YK0	Missense_Mutation	SNP							pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.R718K	ENST00000295269.4	37	c.2153	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	9.916	1.210927	0.22289	.	.	ENSG00000180251	ENST00000295269	T	0.48522	0.81	4.9	2.62	0.31277	.	1.016370	0.07837	N	0.962295	T	0.30293	0.0760	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31138	-0.9954	10	0.02654	T	1	.	5.1629	0.15070	0.2222:0.165:0.6128:0.0	.	718	Q6AI14	SL9A4_HUMAN	K	718	ENSP00000295269:R718K	ENSP00000295269:R718K	R	+	2	0	SLC9A4	102515335	0.905000	0.30787	0.015000	0.15790	0.019000	0.09904	1.069000	0.30641	0.503000	0.28060	0.655000	0.94253	AGA	-	NULL		0.478	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	protein_coding	OTTHUMT00000329498.1	G	NM_001011552.3	-		103148903	1	no_errors	ENST00000295269	ensembl	human	known	74_37	missense	SNP	0.042	A	A	103148903	G	A	103148903	3	1	102	1	0	0	0	0	1	0	0	0	14724	942	33	2	2199	2	SLC9A4	2	103148903	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	145443	103148903	140050470	98	6008											
TGFBRAP1	9392	genome.wustl.edu	37	chr2	105897047	105897047	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttgcacttggccatcttctCctggtccccctgggtcagct	9	15	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:105897047C>A	ENST00000393359.2	-	6	1681	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.E419*			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	419					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCATCTTCTCCTGGTCCCCC	0.577																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0								ENSG00000135966						146	125	132					2																	105897047		2203	4300	6503	TGFBRAP1	SO:0001587	stop_gained	0			-	HGNC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1255G>T	2.37:g.105897047C>A	ENSP00000377027:p.Glu419*	Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	A8K5R7|D3DVJ8|O60466	Nonsense_Mutation	SNP							pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.E419*	ENST00000393359.2	37	c.1255	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	C	43	9.917879	0.99295	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	.	.	.	5.29	5.29	0.74685	.	0.105686	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-25.3505	18.9426	0.92610	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	ENSP00000258449:E419X	E	-	1	0	TGFBRAP1	105263479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.796000	0.62496	2.463000	0.83235	0.650000	0.86243	GAG	-	NULL		0.577	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	protein_coding	OTTHUMT00000253354.2	C	NM_004257	-		105897047	-1	no_errors	ENST00000258449	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	105897047	C	A	105897047	4	1	102	1	0	0	0	0	0	1	0	0	15831	864	30	3	1355	3	TGFBRAP1	2	105897047	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2748144	105897047	137302326	99	6009											
GCC2	9648	genome.wustl.edu	37	chr2	109100731	109100731	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagcaagaaataaaaattCaaaaacagaaacaagaaacc	6	6	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:109100731C>T	ENST00000309863.6	+	13	4291	c.3577C>T	c.(3577-3579)Caa>Taa	p.Q1193*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1193					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATAAAAATTCAAAAACAGAA	0.269																																																	0								ENSG00000135968						36	37	37					2																	109100731		2196	4293	6489	GCC2	SO:0001587	stop_gained	0			-	HGNC	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3577C>T	2.37:g.109100731C>T	ENSP00000307939:p.Gln1193*	Somatic	0	35	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP							pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q1193*	ENST00000309863.6	37	c.3577	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.571892	0.98868	.	.	ENSG00000135968	ENST00000309863	.	.	.	5.98	2.78	0.32641	.	0.579120	0.18019	N	0.154282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	9.7829	0.40660	0.1183:0.7431:0.0:0.1386	.	.	.	.	X	1193	.	ENSP00000307939:Q1193X	Q	+	1	0	GCC2	108467163	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.093000	0.50217	0.849000	0.35215	-0.218000	0.12543	CAA	-	NULL		0.269	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	protein_coding	OTTHUMT00000358516.3	C	NM_014635	-		109100731	1	no_errors	ENST00000309863	ensembl	human	known	74_37	nonsense	SNP	0.992	T	T	109100731	C	T	109100731	4	4	102	1	0	0	0	0	0	1	0	0	6288	827	29	2	3627	2	GCC2	2	109100731	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3203684	109100731	134098642	100	6010											
DPP10	57628	genome.wustl.edu	37	chr2	116534785	116534785	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctatttctttgcagaGtaaaagtgagcaaattaccg	7	6	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:116534785G>A	ENST00000410059.1	+	14	1703	c.1223G>A	c.(1222-1224)aGt>aAt	p.S408N	DPP10_ENST00000310323.8_Splice_Site_p.S401N|DPP10_ENST00000409163.1_Splice_Site_p.S358N|DPP10_ENST00000393147.2_Splice_Site_p.S412N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	408						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTTTGCAGAGTAAAAGTGAG	0.368																																																	0								ENSG00000175497						96	94	94					2																	116534785		2203	4299	6502	DPP10	SO:0001630	splice_region_variant	0			-	HGNC	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1222-1G>A	2.37:g.116534785G>A		Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S412N	ENST00000410059.1	37	c.1235	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247949	0.39697	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.97	4.03	0.46877	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.439592	0.26935	N	0.021759	T	0.14184	0.0343	N	0.11560	0.145	0.27730	N	0.944832	B;B;B;B	0.32010	0.005;0.351;0.007;0.007	B;B;B;B	0.24541	0.009;0.054;0.015;0.015	T	0.10474	-1.0628	10	0.25106	T	0.35	-11.9316	11.3335	0.49490	0.0:0.2806:0.7194:0.0	.	401;412;404;408	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	408;358;412;401;358	ENSP00000386565:S408N;ENSP00000387038:S358N;ENSP00000376855:S412N;ENSP00000309066:S401N	ENSP00000309066:S401N	S	+	2	0	DPP10	116251255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.294000	0.51787	2.731000	0.93534	0.655000	0.94253	AGT	-	pfam_Peptidase_S9B		0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	G	NM_020868	-	Missense_Mutation	116534785	1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116534785	G	A	116534785	5	1	102	1	0	0	0	0	0	0	1	0	4729	1043	36	2	1448	2	DPP10	2	116534785	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7434054	116534785	126664588	101	6011											
MKI67IP	84365	genome.wustl.edu	37	chr2	122488477	122488477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaatatttaccaaagaagGaaaatcatagtcaattcctt	5	7	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:122488477G>A	ENST00000285814.4	-	4	628	c.556C>T	c.(556-558)Cct>Tct	p.P186S	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		186					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACCAAAGAAGGAAAATCATAG	0.393																																																	0								ENSG00000155438						112	113	113					2																	122488477		2203	4299	6502	MKI67IP	SO:0001583	missense	0			-	HGNC																												ENST00000285814.4:c.556C>T	2.37:g.122488477G>A	ENSP00000285814:p.Pro186Ser	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP							pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P186S	ENST00000285814.4	37	c.556	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708078	0.48412	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000423105;ENST00000447132;ENST00000451734	T;T;T	0.48836	2.28;0.8;1.45	5.65	4.77	0.60923	.	0.100420	0.64402	N	0.000001	T	0.59046	0.2165	M	0.64567	1.98	0.51482	D	0.99992	D;P	0.65815	0.995;0.802	P;B	0.59761	0.863;0.236	T	0.59915	-0.7364	10	0.48119	T	0.1	-10.8813	10.4288	0.44395	0.0895:0.0:0.9105:0.0	.	186;186	B4DSM4;Q9BYG3	.;MK67I_HUMAN	S	186;186;15;81;154	ENSP00000285814:P186S;ENSP00000406227:P81S;ENSP00000398116:P154S	ENSP00000285814:P186S	P	-	1	0	MKI67IP	122204947	1.000000	0.71417	0.751000	0.31187	0.105000	0.19272	5.687000	0.68219	1.383000	0.46405	0.655000	0.94253	CCT	-	NULL		0.393	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	protein_coding	OTTHUMT00000254239.2	G		-		122488477	-1	no_errors	ENST00000285814	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122488477	G	A	122488477	3	1	102	1	0	0	0	0	1	0	0	0	9601	1174	41	2	341	2	MKI67IP	2	122488477	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5953692	122488477	120710896	102	6012											
LRP1B	53353	genome.wustl.edu	37	chr2	142238075	142238075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagcaatgtgattcaagGggcacttgatttctacctcc	10	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:142238075G>A	ENST00000389484.3	-	3	1204	c.233C>T	c.(232-234)cCc>cTc	p.P78L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	78	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		GTGATTCAAGGGGCACTTGAT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						134	119	124					2																	142238075		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.233C>T	2.37:g.142238075G>A	ENSP00000374135:p.Pro78Leu	Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P78L	ENST00000389484.3	37	c.233	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553595	0.45487	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	M	0.66439	2.03	0.54753	D	0.99998	B	0.25351	0.124	B	0.35655	0.207	D	0.90856	0.4735	10	0.22706	T	0.39	.	17.0733	0.86580	0.0:0.1265:0.8735:0.0	.	78	Q9NZR2	LRP1B_HUMAN	L	78;14	ENSP00000374135:P78L	ENSP00000374135:P78L	P	-	2	0	LRP1B	141954545	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.194000	0.77789	2.836000	0.97738	0.655000	0.94253	CCC	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		142238075	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	142238075	G	A	142238075	3	1	102	1	0	0	0	0	1	0	0	0	8957	1232	43	2	13922	2	LRP1B	2	142238075	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	19749598	142238075	100961298	103	6013											
MBD5	55777	genome.wustl.edu	37	chr2	149243394	149243394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaacaacaatcagatgtttCctccaaatcagcaacagcag	5	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:149243394C>T	ENST00000407073.1	+	11	3926	c.2929C>T	c.(2929-2931)Cct>Tct	p.P977S	MBD5_ENST00000404807.1_Missense_Mutation_p.P1210S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	977					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAGATGTTTCCTCCAAATCA	0.423																																																	0								ENSG00000204406						92	87	89					2																	149243394		2203	4300	6503	MBD5	SO:0001583	missense	0			-	HGNC	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2929C>T	2.37:g.149243394C>T	ENSP00000386049:p.Pro977Ser	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP							superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.P977S	ENST00000407073.1	37	c.2929	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255768	0.80135	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.17054	2.3;2.3	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000011	T	0.32496	0.0831	L	0.27053	0.805	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.08617	-1.0713	10	0.87932	D	0	-6.7661	19.3258	0.94261	0.0:1.0:0.0:0.0	.	1210;977	E9PHH0;Q9P267	.;MBD5_HUMAN	S	977;1210	ENSP00000386049:P977S;ENSP00000384672:P1210S	ENSP00000384672:P1210S	P	+	1	0	MBD5	148959864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.036000	0.70948	2.579000	0.87056	0.591000	0.81541	CCT	-	NULL		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	protein_coding	OTTHUMT00000318111.2	C		-		149243394	1	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149243394	C	T	149243394	3	4	102	1	0	0	0	0	1	0	0	0	9349	855	30	2	2951	2	MBD5	2	149243394	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	7005319	149243394	93955979	104	6014											
NEB	4703	genome.wustl.edu	37	chr2	152477456	152477456	+	Missense_Mutation	SNP	C	C	T													actggcaatatcccgagaggCcttggcagccacaatgggaa							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:152477456C>T	ENST00000172853.10	-	68	9955	c.9808G>A	c.(9808-9810)Gcc>Acc	p.A3270T	NEB_ENST00000427231.2_Missense_Mutation_p.A3513T|NEB_ENST00000603639.1_Missense_Mutation_p.A3513T|NEB_ENST00000409198.1_Missense_Mutation_p.A3270T|NEB_ENST00000397345.3_Missense_Mutation_p.A3513T|NEB_ENST00000604864.1_Missense_Mutation_p.A3513T			P20929	NEBU_HUMAN	nebulin	3270					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)		TCCCGAGAGGCCTTGGCAGCC	0.483																																																	0								ENSG00000183091						80	82	81					2																	152477456		1964	4147	6111	NEB	SO:0001583	missense	0			-	HGNC	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.9808G>A	2.37:g.152477456C>T	ENSP00000172853:p.Ala3270Thr	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A3513T	ENST00000172853.10	37	c.10537		2	.	.	.	.	.	.	.	.	.	.	C	36	5.776506	0.96922	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.69	5.69	0.88448	.	0.102039	0.64402	D	0.000003	T	0.71525	0.3350	M	0.80332	2.49	0.80722	D	1	D	0.61697	0.99	D	0.68353	0.957	T	0.72200	-0.4362	10	0.54805	T	0.06	.	19.7914	0.96458	0.0:1.0:0.0:0.0	.	3270	P20929	NEBU_HUMAN	T	3270;3513;3513;3270	ENSP00000386259:A3270T;ENSP00000380505:A3513T;ENSP00000416578:A3513T;ENSP00000172853:A3270T	ENSP00000172853:A3270T	A	-	1	0	NEB	152185702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.638000	0.67861	2.840000	0.97914	0.655000	0.94253	GCC	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152477456	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152477456	C	T	152477456	3	4	102	1	0	0	0	0	1	0	0	0	10304	739	26	2	15593	2	NEB	2	152477456	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3234062	152477456	90721917	105	6015	71	2									
NEB	4703	genome.wustl.edu	37	chr2	152477457	152477457	+	Silent	SNP	C	C	T													ctggcaatatcccgagaggcCttggcagccacaatgggaat							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:152477457C>T	ENST00000172853.10	-	68	9954	c.9807G>A	c.(9805-9807)aaG>aaA	p.K3269K	NEB_ENST00000427231.2_Silent_p.K3512K|NEB_ENST00000603639.1_Silent_p.K3512K|NEB_ENST00000409198.1_Silent_p.K3269K|NEB_ENST00000397345.3_Silent_p.K3512K|NEB_ENST00000604864.1_Silent_p.K3512K			P20929	NEBU_HUMAN	nebulin	3269					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)		CCCGAGAGGCCTTGGCAGCCA	0.483																																																	0								ENSG00000183091						80	81	81					2																	152477457		1963	4147	6110	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.9807G>A	2.37:g.152477457C>T		Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K3512	ENST00000172853.10	37	c.10536		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152477457	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	1.000	T	T	152477457	C	T	152477457	2	4	102	1	0	0	0	0	0	0	0	1	10304	680	24	2		2	NEB	2	152477457	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	152477457	90721916	106	6016	71	2									
CACNB4	785	genome.wustl.edu	37	chr2	152733001	152733001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgttctccaatctgagtgGacttggaatgaagccaattt	9	7	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:152733001G>A	ENST00000539935.1	-	5	527	c.460C>T	c.(460-462)Cca>Tca	p.P154S	CACNB4_ENST00000360283.6_Missense_Mutation_p.P120S|CACNB4_ENST00000201943.5_Missense_Mutation_p.P154S|CACNB4_ENST00000397327.2_Missense_Mutation_p.P107S|CACNB4_ENST00000534999.1_Missense_Mutation_p.P120S|CACNB4_ENST00000427385.1_Missense_Mutation_p.P136S	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	154					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AATCTGAGTGGACTTGGAATG	0.398																																																	0								ENSG00000182389						125	120	122					2																	152733001		1919	4155	6074	CACNB4	SO:0001583	missense	0			-	HGNC	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.460C>T	2.37:g.152733001G>A	ENSP00000438949:p.Pro154Ser	Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu	p.P154S	ENST00000539935.1	37	c.460	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.236301	0.95240	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254;ENST00000434468	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.45	5.45	0.79879	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.998;0.999	D;D;D;D;D	0.91635	0.986;0.999;0.99;0.99;0.995	D	0.94571	0.7771	10	0.87932	D	0	-14.9771	19.6482	0.95790	0.0:0.0:1.0:0.0	.	154;120;154;136;120	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	S	154;120;111;149;120;107;136;154;154;107	ENSP00000438949:P154S;ENSP00000353425:P120S;ENSP00000390161:P149S;ENSP00000443893:P120S;ENSP00000380490:P107S;ENSP00000410978:P136S;ENSP00000201943:P154S;ENSP00000399242:P107S	ENSP00000201943:P154S	P	-	1	0	CACNB4	152441247	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	9.785000	0.99042	2.696000	0.92011	0.655000	0.94253	CCA	-	superfamily_SH3_domain		0.398	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3	-		152733001	-1	no_errors	ENST00000539935	ensembl	human	known	74_37	missense	SNP	1.000	A	A	152733001	G	A	152733001	3	1	102	1	0	0	0	0	1	0	0	0	2557	1174	41	2	1142	2	CACNB4	2	152733001	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	255544	152733001	90466372	107	6017											
FMNL2	114793	genome.wustl.edu	37	chr2	153417452	153417452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggtggacaaatcaaagCcctggagtaggtccatcgag	13	10	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:153417452C>T	ENST00000288670.9	+	6	866	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	167	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAATCAAAGCCCTGGAGTAG	0.493																																																	0								ENSG00000157827						47	50	49					2																	153417452		1901	4119	6020	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.499C>T	2.37:g.153417452C>T	ENSP00000288670:p.Pro167Ser	Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	36.84	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.P167S	ENST00000288670.9	37	c.499	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085932	0.76642	.	.	ENSG00000157827	ENST00000288670	T	0.75821	-0.97	5.62	5.62	0.85841	.	0.151595	0.64402	D	0.000011	T	0.71762	0.3378	N	0.05124	-0.11	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.66424	-0.5927	10	0.07990	T	0.79	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	167	Q96PY5-3	.	S	167	ENSP00000288670:P167S	ENSP00000288670:P167S	P	+	1	0	FMNL2	153125698	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.271000	0.43364	2.809000	0.96659	0.655000	0.94253	CCC	-	superfamily_ARM-type_fold		0.493	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	C	NM_052905	-		153417452	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153417452	C	T	153417452	3	4	102	1	0	0	0	0	1	0	0	0	5954	739	26	2	521	2	FMNL2	2	153417452	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	684451	153417452	89781921	108	6018											
SLC4A10	57282	genome.wustl.edu	37	chr2	162821569	162821569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttacttcaggtgttagcCctggtatttgtaagaaagtt	9	5	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:162821569C>T	ENST00000446997.1	+	23	3138	c.3045C>T	c.(3043-3045)gcC>gcT	p.A1015A	SLC4A10_ENST00000415876.2_Silent_p.A985A|SLC4A10_ENST00000272716.5_Silent_p.A985A|SLC4A10_ENST00000375514.5_Silent_p.A996A|SLC4A10_ENST00000421911.1_Silent_p.A1015A	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1015				A -> S (in Ref. 1; BAB18301). {ECO:0000305}.	bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGGTGTTAGCCCTGGTATTTG	0.368																																																	0								ENSG00000144290						80	72	75					2																	162821569		1804	4082	5886	SLC4A10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3045C>T	2.37:g.162821569C>T		Somatic	0	95	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A1015	ENST00000446997.1	37	c.3045	CCDS54411.1	2																																																																																			-	tigrfam_HCO3_transpt_euk		0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	protein_coding	OTTHUMT00000333090.1	C	NM_022058	-		162821569	1	no_errors	ENST00000446997	ensembl	human	known	74_37	silent	SNP	0.516	T	T	162821569	C	T	162821569	2	4	102	1	0	0	0	0	0	0	0	1	14659	610	22	2		2	SLC4A10	2	162821569	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9404117	162821569	80377804	109	6019											
SCN9A	6335	genome.wustl.edu	37	chr2	167133824	167133824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgttcaatgttggccagGattttgccaacttgaagact	10	8	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:167133824G>A	ENST00000409435.1	-	15	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S849F|SCN9A_ENST00000409672.1_Missense_Mutation_p.S837F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S849F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	848					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTGGCCAGGATTTTGCCAA	0.363																																																	0								ENSG00000169432						81	81	81					2																	167133824		2203	4300	6503	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2543C>T	2.37:g.167133824G>A	ENSP00000386330:p.Ser848Phe	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S849F	ENST00000409435.1	37	c.2546	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842671	0.91197	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000005	D	0.98858	0.9614	M	0.76328	2.33	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.99833	1.1055	10	0.87932	D	0	.	20.0344	0.97551	0.0:0.0:1.0:0.0	.	837	E7EUN6	.	F	837;849;849;848	ENSP00000386306:S837F;ENSP00000364536:S849F;ENSP00000304748:S849F;ENSP00000386330:S848F	ENSP00000304748:S849F	S	-	2	0	SCN9A	166842070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.664000	0.98607	2.803000	0.96430	0.650000	0.86243	TCC	-	pfam_Ion_trans_dom		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	G	NM_002977	-		167133824	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167133824	G	A	167133824	3	1	102	1	0	0	0	0	1	0	0	0	13933	1174	41	2	3471	2	SCN9A	2	167133824	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4312255	167133824	76065549	110	6020											
XIRP2	129446	genome.wustl.edu	37	chr2	167760013	167760013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcccaatgcagaagggCtccctcaacctcctgaggca	9	14	1	2	rs373936387		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:167760013C>T	ENST00000409728.1	+	2	110	c.21C>T	c.(19-21)ggC>ggT	p.G7G	XIRP2_ENST00000409043.1_Silent_p.G7G|XIRP2_ENST00000409756.2_Silent_p.G7G|XIRP2_ENST00000409195.1_Silent_p.G7G|XIRP2_ENST00000295237.9_Silent_p.G7G|XIRP2_ENST00000420519.1_Silent_p.G7G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						TGCAGAAGGGCTCCCTCAACC	0.463																																																	0								ENSG00000163092	C	,,	1,3825		0,1,1912	70	68	69		21,21,21	-3.2	1	2		69	5,8269		0,5,4132	no	coding-synonymous,coding-synonymous,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_152381.5	,,	0,6,6044	TT,TC,CC		0.0604,0.0261,0.0496	,,	7/939,7/972,7/3550	167760013	6,12094	1913	4137	6050	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000409728.1:c.21C>T	2.37:g.167760013C>T		Somatic	0	25	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP							pfam_Actin-binding_Xin_repeat	p.G7	ENST00000409728.1	37	c.21	CCDS56143.1	2																																																																																			-	NULL		0.463	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333552.1	C	NM_152381	-		167760013	1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	0.962	T	T	167760013	C	T	167760013	2	4	102	1	0	0	0	0	0	0	0	1	17437	784	28	2		2	XIRP2	2	167760013	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	626189	167760013	75439360	111	6021											
XIRP2	129446	genome.wustl.edu	37	chr2	167760079	167760079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgagtgtcatcccagGgacagccattgtacaatttt	10	8	1	2	rs368840398		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:167760079G>A	ENST00000409728.1	+	2	176	c.87G>A	c.(85-87)agG>agA	p.R29R	XIRP2_ENST00000409043.1_Silent_p.R29R|XIRP2_ENST00000409756.2_Silent_p.R29R|XIRP2_ENST00000409195.1_Silent_p.R29R|XIRP2_ENST00000295237.9_Silent_p.R29R|XIRP2_ENST00000420519.1_Silent_p.R29R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						GTCATCCCAGGGACAGCCATT	0.498																																																	0								ENSG00000163092	G	,,	1,3867		0,1,1933	69	67	68		87,87,87	-1.6	0	2		68	0,8282		0,0,4141	no	coding-synonymous,coding-synonymous,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_152381.5	,,	0,1,6074	AA,AG,GG		0.0,0.0259,0.0082	,,	29/939,29/972,29/3550	167760079	1,12149	1934	4141	6075	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000409728.1:c.87G>A	2.37:g.167760079G>A		Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP							pfam_Actin-binding_Xin_repeat	p.R29	ENST00000409728.1	37	c.87	CCDS56143.1	2																																																																																			-	NULL		0.498	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333552.1	G	NM_152381	-		167760079	1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	0.001	A	A	167760079	G	A	167760079	2	1	102	1	0	0	0	0	0	0	0	1	17437	1223	43	2		2	XIRP2	2	167760079	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	66	167760079	75439294	112	6022											
XIRP2	129446	genome.wustl.edu	37	chr2	168107021	168107021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgatgtcctccaaaacagGaaaaccgggaaataaaccca	7	11	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:168107021G>A	ENST00000409195.1	+	9	9208	c.9119G>A	c.(9118-9120)gGa>gAa	p.G3040E	XIRP2_ENST00000295237.9_Missense_Mutation_p.G3040E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2818E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2865					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						TCCAAAACAGGAAAACCGGGA	0.318																																																	0								ENSG00000163092						97	92	94					2																	168107021		1834	4069	5903	XIRP2	SO:0001583	missense	0			-	HGNC	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.9119G>A	2.37:g.168107021G>A	ENSP00000386840:p.Gly3040Glu	Somatic	0	34	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.G3040E	ENST00000409195.1	37	c.9119	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	3.031	-0.199563	0.06219	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02369	4.32;4.32;4.32	5.88	1.93	0.25924	.	0.588316	0.16808	N	0.198692	T	0.01940	0.0061	L	0.34521	1.04	0.30700	N	0.750397	B;B;B	0.20550	0.027;0.046;0.015	B;B;B	0.22601	0.018;0.04;0.015	T	0.43278	-0.9401	10	0.02654	T	1	-9.1549	4.373	0.11256	0.236:0.0:0.5031:0.2609	.	2865;2865;2818	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3040;3040;2818;454	ENSP00000386840:G3040E;ENSP00000295237:G3040E;ENSP00000387255:G2818E	ENSP00000295237:G3040E	G	+	2	0	XIRP2	167815267	0.609000	0.26975	0.093000	0.20910	0.109000	0.19521	1.018000	0.30002	0.413000	0.25759	-0.259000	0.10710	GGA	-	NULL		0.318	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381	-		168107021	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.768	A	A	168107021	G	A	168107021	3	1	102	1	0	0	0	0	1	0	0	0	17437	1174	41	2	9149	2	XIRP2	2	168107021	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	346942	168107021	75092352	113	6023											
XIRP2	129446	genome.wustl.edu	37	chr2	168107423	168107423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaacacttccccttctcCacccaggagtcgctctgaac	6	17	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:168107423C>T	ENST00000409195.1	+	9	9610	c.9521C>T	c.(9520-9522)cCa>cTa	p.P3174L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P3174L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2952L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2999					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						TCCCCTTCTCCACCCAGGAGT	0.493																																																	0								ENSG00000163092						85	84	85					2																	168107423		1907	4132	6039	XIRP2	SO:0001583	missense	0			-	HGNC	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.9521C>T	2.37:g.168107423C>T	ENSP00000386840:p.Pro3174Leu	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.P3174L	ENST00000409195.1	37	c.9521	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338500	0.41398	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.22743	2.0;2.0;1.94	5.75	4.85	0.62838	.	0.255835	0.38959	N	0.001516	T	0.35128	0.0921	M	0.68952	2.095	0.58432	D	0.999996	P;P;B	0.50369	0.891;0.934;0.063	P;P;B	0.53313	0.532;0.723;0.062	T	0.12708	-1.0537	10	0.72032	D	0.01	-3.8057	11.2263	0.48886	0.0:0.9103:0.0:0.0897	.	2999;2999;2952	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	3174;3174;2952;588	ENSP00000386840:P3174L;ENSP00000295237:P3174L;ENSP00000387255:P2952L	ENSP00000295237:P3174L	P	+	2	0	XIRP2	167815669	0.997000	0.39634	0.048000	0.18961	0.262000	0.26303	4.915000	0.63355	1.379000	0.46325	0.460000	0.39030	CCA	-	NULL		0.493	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168107423	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.992	T	T	168107423	C	T	168107423	3	4	102	1	0	0	0	0	1	0	0	0	17437	594	21	2	9551	2	XIRP2	2	168107423	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	402	168107423	75091950	114	6024											
GAD1	2571	genome.wustl.edu	37	chr2	171702556	171702556	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgattttgaggcaaaaattCttgaagccaaacagaaggta	9	6	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:171702556C>T	ENST00000358196.3	+	10	1535	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	329					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.L329I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGCAAAAATTCTTGAAGCCAA	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000128683						63	67	66					2																	171702556		2203	4300	6503	GAD1	SO:0001583	missense	0			-	HGNC		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.985C>T	2.37:g.171702556C>T	ENSP00000350928:p.Leu329Phe	Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.L329F	ENST00000358196.3	37	c.985	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086195	0.36855	.	.	ENSG00000128683	ENST00000358196	T	0.38077	1.16	5.91	4.12	0.48240	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.179257	0.44483	D	0.000454	T	0.46054	0.1373	M	0.82193	2.58	0.80722	D	1	P	0.34934	0.476	B	0.41691	0.364	T	0.42799	-0.9430	10	0.49607	T	0.09	-7.902	9.4119	0.38496	0.1185:0.7552:0.0:0.1263	.	329	Q99259	DCE1_HUMAN	F	329	ENSP00000350928:L329F	ENSP00000350928:L329F	L	+	1	0	GAD1	171410802	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	0.872000	0.28037	0.842000	0.35045	-0.126000	0.14955	CTT	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase		0.348	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	protein_coding	OTTHUMT00000102664.2	C		-		171702556	1	no_errors	ENST00000358196	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171702556	C	T	171702556	3	4	102	1	0	0	0	0	1	0	0	0	6181	913	32	2	1060	2	GAD1	2	171702556	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3595133	171702556	71496817	115	6025											
CHRNA1	1134	genome.wustl.edu	37	chr2	175618352	175618352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaagtggtaggtgatgtcCaggtagggggtgtcggggca	20	5	0	1	rs375856493		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:175618352C>T	ENST00000261007.5	-	7	798	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHRNA1_ENST00000409542.1_Silent_p.L137L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Silent_p.L219L|CHRNA1_ENST00000409323.1_Silent_p.L219L|CHRNA1_ENST00000348749.5_Silent_p.L219L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|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)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AGGTGATGTCCAGGTAGGGGG	0.582																																																	0								ENSG00000138435						169	158	162					2																	175618352		2203	4300	6503	CHRNA1	SO:0001819	synonymous_variant	0			-	HGNC	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.732G>A	2.37:g.175618352C>T		Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B4DRV6|D3DPE8	Silent	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L244	ENST00000261007.5	37	c.732	CCDS33331.1	2																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	protein_coding	OTTHUMT00000334116.1	C		-		175618352	-1	no_errors	ENST00000261007	ensembl	human	known	74_37	silent	SNP	1.000	T	T	175618352	C	T	175618352	2	4	102	1	0	0	0	0	0	0	0	1	3383	581	21	2		2	CHRNA1	2	175618352	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3915796	175618352	67581021	116	6026											
TTN	7273	genome.wustl.edu	37	chr2	179418830	179418830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgtctcgtttttcaaGgaaatagccacttatatcac	5	10	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:179418830G>A	ENST00000591111.1	-	283	84309	c.84085C>T	c.(84085-84087)Ctt>Ttt	p.L28029F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27102F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20605F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L29670F|TTN_ENST00000359218.5_Missense_Mutation_p.L20730F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20797F|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28029	Fibronectin type-III 104. {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.L20605I(1)|p.L27100I(1)|p.L20797I(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)			CGTTTTTCAAGGAAATAGCCA	0.418																																																	3	Substitution - Missense(3)	large_intestine(3)						ENSG00000155657						197	192	193					2																	179418830		1907	4137	6044	TTN	SO:0001583	missense	0			-	HGNC	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.84085C>T	2.37:g.179418830G>A	ENSP00000465570:p.Leu28029Phe	Somatic	0	20	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L27102F	ENST00000591111.1	37	c.81304		2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650930	0.67472	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84306	0.5443	H	0.95079	3.62	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.88288	0.2941	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20605;20730;20797;28029	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	27102;20605;20797;20730;20602	ENSP00000343764:L27102F;ENSP00000434586:L20605F;ENSP00000340554:L20797F;ENSP00000352154:L20730F	ENSP00000340554:L20797F	L	-	1	0	TTN	179127076	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.647000	0.67923	2.793000	0.96121	0.655000	0.94253	CTT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179418830	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179418830	G	A	179418830	3	1	102	1	0	0	0	0	1	0	0	0	16742	1000	35	2	19091	2	TTN	2	179418830	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3800478	179418830	63780543	117	6027											
TTN	7273	genome.wustl.edu	37	chr2	179604785	179604785	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgaattttcaggtttaatCtctgctcttctggaatacca	6	8	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:179604785C>T	ENST00000591111.1	-	46	12448	c.12224G>A	c.(12223-12225)aGa>aAa	p.R4075K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.R4029K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R4392K|TTN_ENST00000359218.5_Missense_Mutation_p.R4154K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4221K			Q8WZ42	TITIN_HUMAN	titin	0					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)			CAGGTTTAATCTCTGCTCTTC	0.468																																																	0								ENSG00000155657						52	52	52					2																	179604785		1844	4092	5936	TTN	SO:0001583	missense	0			-	HGNC	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.12224G>A	2.37:g.179604785C>T	ENSP00000465570:p.Arg4075Lys	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	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							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R4221K	ENST00000591111.1	37	c.12662		2	.	.	.	.	.	.	.	.	.	.	C	4.645	0.119893	0.08881	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60171	0.28;0.22;0.21	5.7	-1.68	0.08212	.	.	.	.	.	T	0.40886	0.1135	N	0.19112	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	0.38972	-0.9636	9	0.87932	D	0	.	11.798	0.52110	0.0:0.2711:0.0:0.7289	.	4029;4154;4221	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4029;4221;4154;4029	ENSP00000434586:R4029K;ENSP00000340554:R4221K;ENSP00000352154:R4154K	ENSP00000340554:R4221K	R	-	2	0	TTN	179313030	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.877000	0.04197	-0.143000	0.11334	-0.136000	0.14681	AGA	-	superfamily_RNaseH-like_dom		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179604785	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	SNP	0.000	T	T	179604785	C	T	179604785	3	4	102	1	0	0	0	0	1	0	0	0	16742	913	32	2	91614	2	TTN	2	179604785	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	185955	179604785	63594588	118	6028											
ITGAV	3685	genome.wustl.edu	37	chr2	187521068	187521068	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtccccaagtcactccaaGaacatgactatttcaagggg	9	11	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:187521068G>T	ENST00000261023.3	+	17	1933	c.1659G>T	c.(1657-1659)aaG>aaT	p.K553N	ITGAV_ENST00000433736.2_Missense_Mutation_p.K507N|ITGAV_ENST00000374907.3_Missense_Mutation_p.K517N|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	553					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)	GTCACTCCAAGAACATGACTA	0.443																																					Melanoma(58;108 1995 6081)												0								ENSG00000138448						246	233	238					2																	187521068		2203	4300	6503	ITGAV	SO:0001583	missense	0			-	HGNC		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.1659G>T	2.37:g.187521068G>T	ENSP00000261023:p.Lys553Asn	Somatic	0	35	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.K553N	ENST00000261023.3	37	c.1659	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412224	0.62511	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46451	0.87;0.87;0.87	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.962;0.999	T	0.64820	-0.6317	10	0.56958	D	0.05	.	19.2	0.93708	0.0:0.0:1.0:0.0	.	507;517;553	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	N	553;517;507	ENSP00000261023:K553N;ENSP00000364042:K517N;ENSP00000404291:K507N	ENSP00000261023:K553N	K	+	3	2	ITGAV	187229313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.125000	0.57931	2.541000	0.85698	0.455000	0.32223	AAG	-	pfam_Integrin_alpha-2		0.443	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	protein_coding	OTTHUMT00000255882.2	G	NM_002210	-		187521068	1	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187521068	G	T	187521068	3	4	102	1	0	0	0	0	1	0	0	0	7890	933	33	3	1776	3	ITGAV	2	187521068	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7916283	187521068	55678305	119	6029											
GULP1	51454	genome.wustl.edu	37	chr2	189434016	189434016	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatttgacctggcatacagGaaatttctagaatcaggagg	11	7	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:189434016G>A	ENST00000409580.1	+	9	1164	c.450G>A	c.(448-450)agG>agA	p.R150R	GULP1_ENST00000409830.1_Silent_p.R150R|GULP1_ENST00000409843.1_Silent_p.R150R|GULP1_ENST00000409805.1_Silent_p.R47R|GULP1_ENST00000409609.1_Silent_p.R150R|GULP1_ENST00000359135.3_Silent_p.R150R			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	150	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGGCATACAGGAAATTTCTAG	0.338																																					Pancreas(178;563 2065 20199 42378 52815)												0								ENSG00000144366						93	93	93					2																	189434016		2203	4300	6503	GULP1	SO:0001819	synonymous_variant	0			-	HGNC	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.450G>A	2.37:g.189434016G>A		Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Silent	SNP							pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.R150	ENST00000409580.1	37	c.450	CCDS2295.1	2																																																																																			-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.338	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	protein_coding	OTTHUMT00000335722.1	G	NM_016315	-		189434016	1	no_errors	ENST00000359135	ensembl	human	known	74_37	silent	SNP	1.000	A	A	189434016	G	A	189434016	2	1	102	1	0	0	0	0	0	0	0	1	6903	1165	41	2		2	GULP1	2	189434016	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1912948	189434016	53765357	120	6030											
MSTN	2660	genome.wustl.edu	37	chr2	190925007	190925007	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtctttcataggtttgatGagtctcaggatttgcacaaa	9	8	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:190925007G>T	ENST00000260950.4	-	2	660	c.528C>A	c.(526-528)ctC>ctA	p.L176L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	176					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TAGGTTTGATGAGTCTCAGGA	0.413																																																	0								ENSG00000138379						175	165	169					2																	190925007		2203	4300	6503	MSTN	SO:0001819	synonymous_variant	0			-	HGNC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.528C>A	2.37:g.190925007G>T		Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	A1C2J7|A1C2K0|Q6B0H2	Silent	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L176	ENST00000260950.4	37	c.528	CCDS2303.1	2																																																																																			-	pfam_TGF-b_N		0.413	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	protein_coding	OTTHUMT00000255917.2	G	NM_005259	-		190925007	-1	no_errors	ENST00000260950	ensembl	human	known	74_37	silent	SNP	1.000	T	T	190925007	G	T	190925007	2	4	102	1	0	0	0	0	0	0	0	1	9895	1277	45	3		3	MSTN	2	190925007	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1490991	190925007	52274366	121	6031											
MYO1B	4430	genome.wustl.edu	37	chr2	192265479	192265479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaatgcatcacaggcacGaagggaactgagacggctga	12	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:192265479G>A	ENST00000392318.3	+	23	2634	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MYO1B_ENST00000392316.1_Intron|MYO1B_ENST00000439065.2_Intron|MYO1B_ENST00000304164.4_Missense_Mutation_p.R796Q|MYO1B_ENST00000339514.4_Intron	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	796	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCACAGGCACGAAGGGAACTG	0.423																																																	0								ENSG00000128641						107	91	96					2																	192265479		1568	3582	5150	MYO1B	SO:0001583	missense	0			-	HGNC	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2387G>A	2.37:g.192265479G>A	ENSP00000376132:p.Arg796Gln	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	O43794|Q7Z6L5	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R796Q	ENST00000392318.3	37	c.2387	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696941	0.68386	.	.	ENSG00000128641	ENST00000392318;ENST00000304164	T;T	0.76968	-1.06;-1.06	5.13	4.26	0.50523	.	0.071320	0.64402	D	0.000020	T	0.58921	0.2156	N	0.08118	0	0.80722	D	1	B	0.17852	0.024	B	0.08055	0.003	T	0.56469	-0.7974	10	0.46703	T	0.11	.	12.0166	0.53317	0.0797:0.0:0.9203:0.0	.	796	O43795	MYO1B_HUMAN	Q	796	ENSP00000376132:R796Q;ENSP00000306382:R796Q	ENSP00000306382:R796Q	R	+	2	0	MYO1B	191973724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.855000	0.92236	1.396000	0.46663	0.650000	0.86243	CGA	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.423	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	protein_coding	OTTHUMT00000334774.1	G	NM_012223	-		192265479	1	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	SNP	1.000	A	A	192265479	G	A	192265479	3	1	102	1	0	0	0	0	1	0	0	0	10071	1058	37	1	2473	1	MYO1B	2	192265479	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1340472	192265479	50933894	122	6032											
DNAH7	56171	genome.wustl.edu	37	chr2	196746611	196746611	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccattaatgcagagtatcGaattgtgtccagagttggca	10	7	0	2	rs149212659		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:196746611G>A	ENST00000312428.6	-	36	5969	c.5869C>T	c.(5869-5871)Cga>Tga	p.R1957*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1957	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R1957*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAGAGTATCGAATTGTGTCC	0.378																																																	1	Substitution - Nonsense(1)	skin(1)						ENSG00000118997						176	160	165					2																	196746611		1849	4092	5941	DNAH7	SO:0001587	stop_gained	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5869C>T	2.37:g.196746611G>A	ENSP00000311273:p.Arg1957*	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.57	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1957*	ENST00000312428.6	37	c.5869	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	46	12.697337	0.99689	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.04	4.09	0.47781	.	0.066913	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.864	0.63576	0.0:0.0:0.7703:0.2297	.	.	.	.	X	1957	.	ENSP00000311273:R1957X	R	-	1	2	DNAH7	196454856	1.000000	0.71417	0.830000	0.32933	0.924000	0.55760	6.078000	0.71282	2.618000	0.88619	0.585000	0.79938	CGA	-	superfamily_P-loop_NTPase		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	G	NM_018897	rs149212659		196746611	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	196746611	G	A	196746611	4	1	102	1	0	0	0	0	0	1	0	0	4608	1066	37	1	6325	1	DNAH7	2	196746611	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4481132	196746611	46452762	123	6033											
GTF3C3	9330	genome.wustl.edu	37	chr2	197629403	197629403	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagtctaactggtcaagttCtataccctagggagaaaaag	9	7	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:197629403C>T	ENST00000263956.3	-	18	2634	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	849					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGTCAAGTTCTATACCCTAG	0.363																																																	0								ENSG00000119041						111	113	113					2																	197629403		2203	4300	6503	GTF3C3	SO:0001583	missense	0			-	HGNC	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2545G>A	2.37:g.197629403C>T	ENSP00000263956:p.Glu849Lys	Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E849K	ENST00000263956.3	37	c.2545	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787970	0.31593	.	.	ENSG00000119041	ENST00000263956	T	0.46819	0.86	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);	0.270129	0.36628	N	0.002489	T	0.33294	0.0858	N	0.17474	0.49	0.80722	D	1	B	0.32324	0.364	B	0.27170	0.077	T	0.12041	-1.0563	10	0.32370	T	0.25	-10.3933	18.4479	0.90691	0.0:1.0:0.0:0.0	.	849	Q9Y5Q9	TF3C3_HUMAN	K	849	ENSP00000263956:E849K	ENSP00000263956:E849K	E	-	1	0	GTF3C3	197337648	1.000000	0.71417	0.955000	0.39395	0.014000	0.08584	4.216000	0.58540	2.588000	0.87417	0.591000	0.81541	GAA	-	NULL		0.363	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	protein_coding	OTTHUMT00000256104.1	C		-		197629403	-1	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	SNP	0.949	T	T	197629403	C	T	197629403	3	4	102	1	0	0	0	0	1	0	0	0	6876	922	32	2	119	2	GTF3C3	2	197629403	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	882792	197629403	45569970	124	6034											
MAP2	4133	genome.wustl.edu	37	chr2	210517991	210517991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatccacctgagattaagGatcaaggcggagcaggggaa	13	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:210517991G>A	ENST00000360351.4	+	4	603	c.97G>A	c.(97-99)Gat>Aat	p.D33N	MAP2_ENST00000199940.6_Missense_Mutation_p.D33N|MAP2_ENST00000361559.4_Missense_Mutation_p.D33N|MAP2_ENST00000392194.1_Missense_Mutation_p.D33N|MAP2_ENST00000447185.1_Missense_Mutation_p.D33N	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	33					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)	TGAGATTAAGGATCAAGGCGG	0.542																																					Pancreas(27;423 979 28787 29963)												0								ENSG00000078018						110	80	90					2																	210517991		2203	4300	6503	MAP2	SO:0001583	missense	0			-	HGNC		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.97G>A	2.37:g.210517991G>A	ENSP00000353508:p.Asp33Asn	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP							pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.D33N	ENST00000360351.4	37	c.97	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.212071	0.95069	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.45	5.45	0.79879	.	0.105638	0.42172	D	0.000754	T	0.26557	0.0649	N	0.14661	0.345	0.36137	D	0.846542	P;B;B;B;P;B	0.52316	0.95;0.241;0.376;0.155;0.952;0.156	P;B;B;B;P;B	0.57846	0.828;0.094;0.146;0.048;0.678;0.037	T	0.18272	-1.0342	10	0.31617	T	0.26	-6.4288	18.2826	0.90103	0.0:0.0:1.0:0.0	.	33;33;34;33;33;33	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	N	33	ENSP00000199940:D33N;ENSP00000376031:D33N;ENSP00000353508:D33N;ENSP00000355290:D33N;ENSP00000409969:D33N;ENSP00000376032:D33N;ENSP00000392164:D33N	ENSP00000199940:D33N	D	+	1	0	MAP2	210226236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.744000	0.74854	2.561000	0.86390	0.655000	0.94253	GAT	-	NULL		0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538	-		210517991	1	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	SNP	1.000	A	A	210517991	G	A	210517991	3	1	102	1	0	0	0	0	1	0	0	0	9237	1174	41	2	99	2	MAP2	2	210517991	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12888588	210517991	32681382	125	6035											
FN1	2335	genome.wustl.edu	37	chr2	216259284	216259284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagagatagggacactttCcttgtcatccttgacagtgt	9	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:216259284C>T	ENST00000359671.1	-	24	4028	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	FN1_ENST00000443816.1_Missense_Mutation_p.E1255K|FN1_ENST00000356005.4_Missense_Mutation_p.E1255K|FN1_ENST00000336916.4_Missense_Mutation_p.E1255K|FN1_ENST00000432072.2_Missense_Mutation_p.E1255K|FN1_ENST00000354785.4_Missense_Mutation_p.E1255K|FN1_ENST00000323926.6_Missense_Mutation_p.E1255K|FN1_ENST00000357867.4_Missense_Mutation_p.E1255K|FN1_ENST00000346544.3_Missense_Mutation_p.E1255K|FN1_ENST00000357009.2_Missense_Mutation_p.E1255K|FN1_ENST00000421182.1_Missense_Mutation_p.E1255K|FN1_ENST00000345488.5_Missense_Mutation_p.E1255K|FN1_ENST00000446046.1_Missense_Mutation_p.E1255K			P02751	FINC_HUMAN	fibronectin 1	1255	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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)	GGGACACTTTCCTTGTCATCC	0.448																																																	0								ENSG00000115414						172	167	169					2																	216259284		2203	4300	6503	FN1	SO:0001583	missense	0			-	HGNC		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.3763G>A	2.37:g.216259284C>T	ENSP00000352696:p.Glu1255Lys	Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	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	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E1255K	ENST00000359671.1	37	c.3763		2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730653	0.89390	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;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;0.38;0.38;0.38;0.38	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.70316	0.3210	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.998;1.0;1.0;0.999;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.941;0.996;0.998;0.99;0.998;0.991;0.991;0.997	T	0.69499	-0.5129	10	0.52906	T	0.07	.	19.7145	0.96110	0.0:1.0:0.0:0.0	.	1255;1255;1255;1255;1255;1255;1255;1255;1255;1255	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	K	1255	ENSP00000394423:E1255K;ENSP00000323534:E1255K;ENSP00000338200:E1255K;ENSP00000350534:E1255K;ENSP00000346839:E1255K;ENSP00000352696:E1255K;ENSP00000265312:E1255K;ENSP00000273049:E1255K;ENSP00000349509:E1255K;ENSP00000410422:E1255K;ENSP00000415018:E1255K;ENSP00000399538:E1255K;ENSP00000348285:E1255K	ENSP00000265313:E1255K	E	-	1	0	FN1	215967529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.608000	0.67654	2.654000	0.90174	0.655000	0.94253	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		C	NM_212476	-		216259284	-1	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216259284	C	T	216259284	3	4	102	1	0	0	0	0	1	0	0	0	5964	864	30	2	3762	2	FN1	2	216259284	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5741293	216259284	26940089	126	6036											
USP37	57695	genome.wustl.edu	37	chr2	219374786	219374786	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggttacacctcagttttTtaacagaaagaggaactggc	9	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:219374786T>A	ENST00000258399.3	-	11	1353	c.941A>T	c.(940-942)aAa>aTa	p.K314I	USP37_ENST00000454775.1_Missense_Mutation_p.K314I|USP37_ENST00000418019.1_Missense_Mutation_p.K314I|USP37_ENST00000415516.1_Missense_Mutation_p.K242I	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	314					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTCAGTTTTTTAACAGAAAG	0.433																																																	0								ENSG00000135913						105	107	107					2																	219374786		2203	4300	6503	USP37	SO:0001583	missense	0			-	HGNC	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.941A>T	2.37:g.219374786T>A	ENSP00000258399:p.Lys314Ile	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.K314I	ENST00000258399.3	37	c.941	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580130	0.86645	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66590	-0.5885	10	0.72032	D	0.01	-17.6923	16.1777	0.81874	0.0:0.0:0.0:1.0	.	242;314	Q86T82-2;Q86T82	.;UBP37_HUMAN	I	314;314;242;314	ENSP00000258399:K314I;ENSP00000393662:K314I;ENSP00000400902:K242I;ENSP00000396585:K314I	ENSP00000258399:K314I	K	-	2	0	USP37	219083030	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.246000	0.65411	2.222000	0.72286	0.383000	0.25322	AAA	-	NULL		0.433	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	protein_coding	OTTHUMT00000256779.3	T	NM_020935	-		219374786	-1	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	SNP	1.000	A	A	219374786	T	A	219374786	3	1	102	1	0	0	0	0	1	0	0	0	17075	1841	64	5	2062	5	USP37	2	219374786	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	3115502	219374786	23824587	127	6037											
TMEM198	130612	genome.wustl.edu	37	chr2	220412613	220412613	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgactggtgctgcgctgatCgccactgccgctgactactt	12	13	0	3	rs528953796	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:220412613C>T	ENST00000344458.2	+	4	1137	c.552C>T	c.(550-552)atC>atT	p.I184I	TMEM198_ENST00000373883.3_Silent_p.I184I|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	184	Leu-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)				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)		CTGCGCTGATCGCCACTGCCG	0.701													C|||	4	0.000798722	0	0	5008	,	,		12362	0.001		0	False		,,,				2504	0.0031																0								ENSG00000188760						12	11	11					2																	220412613		2190	4292	6482	TMEM198	SO:0001819	synonymous_variant	0			-	HGNC	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.552C>T	2.37:g.220412613C>T		Somatic	0	115	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79		Silent	SNP							NULL	p.I184	ENST00000344458.2	37	c.552	CCDS33385.1	2																																																																																			-	NULL		0.701	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM198	protein_coding	OTTHUMT00000131063.1	C	NM_001005209	-		220412613	1	no_errors	ENST00000344458	ensembl	human	known	74_37	silent	SNP	0.962	T	T	220412613	C	T	220412613	2	4	102	1	0	0	0	0	0	0	0	1	16126	874	31	1		1	TMEM198	2	220412613	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1037827	220412613	22786760	128	6038											
COL4A4	1286	genome.wustl.edu	37	chr2	227954652	227954652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattccttgtggtccggggTtcccaacactacagtatatc	8	11	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:227954652T>C	ENST00000396625.3	-	21	1598	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	COL4A4_ENST00000329662.7_Missense_Mutation_p.N464S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	464	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCGGGGTTCCCAACACT	0.448																																																	0								ENSG00000081052						97	88	91					2																	227954652		1864	4091	5955	COL4A4	SO:0001583	missense	0			-	HGNC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1391A>G	2.37:g.227954652T>C	ENSP00000379866:p.Asn464Ser	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.N464S	ENST00000396625.3	37	c.1391	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	T	8.745	0.919783	0.17982	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.89810	-2.57;-2.51	5.82	-8.81	0.00813	.	.	.	.	.	T	0.63931	0.2553	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58142	-0.7688	9	0.12103	T	0.63	.	3.7231	0.08465	0.1023:0.3232:0.3872:0.1873	.	464	P53420	CO4A4_HUMAN	S	464	ENSP00000379866:N464S;ENSP00000328553:N464S	ENSP00000328553:N464S	N	-	2	0	COL4A4	227662896	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.917000	0.04025	-1.237000	0.02539	0.383000	0.25322	AAC	-	NULL		0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	T	NM_000092	-		227954652	-1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	SNP	0.000	C	C	227954652	T	C	227954652	3	2	102	1	0	0	0	0	1	0	0	0	3695	1725	60	5	3793	5	COL4A4	2	227954652	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	7542039	227954652	15244721	129	6039											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883790	228883790	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcatggcttcagaagcctCagctgcaggcgggaggctac	16	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:228883790C>T	ENST00000392056.3	-	7	1826	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E594K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	594						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)		TCAGAAGCCTCAGCTGCAGGC	0.567																																																	0								ENSG00000153820						41	39	40					2																	228883790		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.1780G>A	2.37:g.228883790C>T	ENSP00000375909:p.Glu594Lys	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.E594K	ENST00000392056.3	37	c.1780	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	4.670	0.124541	0.08931	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.47869	0.83;0.83	5.6	1.6	0.23607	.	2.640600	0.01185	N	0.007192	T	0.45296	0.1335	L	0.54323	1.7	0.09310	N	1	B;B	0.20459	0.001;0.045	B;B	0.23574	0.001;0.047	T	0.28650	-1.0037	10	0.59425	D	0.04	.	3.6962	0.08365	0.1143:0.4714:0.2666:0.1477	.	594;594	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	594	ENSP00000375909:E594K;ENSP00000339886:E594K	ENSP00000339886:E594K	E	-	1	0	SPHKAP	228592034	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	0.119000	0.15626	0.322000	0.23283	0.655000	0.94253	GAG	-	NULL		0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	C	NM_030623	-		228883790	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.001	T	T	228883790	C	T	228883790	3	4	102	1	0	0	0	0	1	0	0	0	15055	835	29	2	3346	2	SPHKAP	2	228883790	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	929138	228883790	14315583	130	6040											
INPP5D	3635	genome.wustl.edu	37	chr2	234106796	234106796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaaccccaactacatgGgagtggggccctttgggcca	11	13	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234106796G>A	ENST00000359570.5	+	27	2713	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	INPP5D_ENST00000455936.2_Missense_Mutation_p.G669R|INPP5D_ENST00000450745.1_Missense_Mutation_p.G669R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	917					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAACTACATGGGAGTGGGGCC	0.622																																					NSCLC(82;1215 1426 16163 20348 41018)												0								ENSG00000168918						23	26	25					2																	234106796		1973	4159	6132	INPP5D	SO:0001583	missense	0			-	HGNC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2713G>A	2.37:g.234106796G>A	ENSP00000352575:p.Gly905Arg	Somatic	0	138	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.G905R	ENST00000359570.5	37	c.2713		2	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031393	0.54790	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.97575	-4.37;-4.44;-4.44;-4.39;-4.39;-4.39	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000005	D	0.93051	0.7788	.	.	.	0.48135	D	0.999591	B;B	0.20261	0.033;0.043	B;B	0.22601	0.035;0.04	D	0.90089	0.4176	9	0.11794	T	0.64	.	15.3748	0.74596	0.0:0.0:1.0:0.0	.	916;917	Q92835-2;Q92835	.;SHIP1_HUMAN	R	905;669;669;538;538;538;39	ENSP00000352575:G905R;ENSP00000407916:G669R;ENSP00000404610:G669R;ENSP00000400151:G538R;ENSP00000397421:G538R;ENSP00000405338:G538R	ENSP00000352575:G905R	G	+	1	0	INPP5D	233771535	1.000000	0.71417	0.971000	0.41717	0.977000	0.68977	6.699000	0.74613	2.361000	0.80049	0.655000	0.94253	GGA	-	NULL		0.622	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	protein_coding		G	NM_001017915	-		234106796	1	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	SNP	1.000	A	A	234106796	G	A	234106796	3	1	102	1	0	0	0	0	1	0	0	0	7758	1233	43	2	2355	2	INPP5D	2	234106796	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5223006	234106796	9092577	131	6041											
DGKD	8527	genome.wustl.edu	37	chr2	234358759	234358759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcttcggggtccccaagGggaggagccagcgcaaaggt	17	10	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234358759G>A	ENST00000264057.2	+	16	2032	c.2020G>A	c.(2020-2022)Ggg>Agg	p.G674R	DGKD_ENST00000409813.3_Missense_Mutation_p.G630R	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	674					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGTCCCCAAGGGGAGGAGCCA	0.622																																																	0								ENSG00000077044						51	49	50					2																	234358759		2203	4300	6503	DGKD	SO:0001583	missense	0			-	HGNC	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2020G>A	2.37:g.234358759G>A	ENSP00000264057:p.Gly674Arg	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.G674R	ENST00000264057.2	37	c.2020	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085802	0.20390	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79352	-1.09;-1.26	4.37	2.55	0.30701	.	0.726265	0.12981	N	0.423265	T	0.65719	0.2718	L	0.47716	1.5	0.26509	N	0.974627	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.002;0.001;0.005	T	0.49661	-0.8916	10	0.16896	T	0.51	.	4.8365	0.13468	0.0803:0.1505:0.6128:0.1563	.	558;630;674	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	R	674;630	ENSP00000264057:G674R;ENSP00000386455:G630R	ENSP00000264057:G674R	G	+	1	0	DGKD	234023498	1.000000	0.71417	0.227000	0.23927	0.552000	0.35366	2.958000	0.49145	0.413000	0.25759	0.561000	0.74099	GGG	-	NULL		0.622	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	protein_coding	OTTHUMT00000257072.2	G	NM_003648	-		234358759	1	no_errors	ENST00000264057	ensembl	human	known	74_37	missense	SNP	0.634	A	A	234358759	G	A	234358759	3	1	102	1	0	0	0	0	1	0	0	0	4469	1232	43	2	2106	2	DGKD	2	234358759	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	251963	234358759	8840614	132	6042											
USP40	55230	genome.wustl.edu	37	chr2	234442285	234442285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctattgtttaaacctggGgattctggaggaagcatctt	11	6	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234442285G>A	ENST00000427112.2	-	10	1343	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	USP40_ENST00000450966.1_Silent_p.S448S|USP40_ENST00000251722.6_Silent_p.S436S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	436	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTAAACCTGGGGATTCTGGAG	0.408																																																	0								ENSG00000085982						135	127	129					2																	234442285		1843	4078	5921	USP40	SO:0001819	synonymous_variant	0			-	HGNC	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1308C>T	2.37:g.234442285G>A		Somatic	0	113	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	Q6NX38|Q70EL0	Silent	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S448	ENST00000427112.2	37	c.1344	CCDS46547.1	2																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.408	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	protein_coding	OTTHUMT00000397235.1	G	XM_114294	-		234442285	-1	no_errors	ENST00000450966	ensembl	human	known	74_37	silent	SNP	0.001	A	A	234442285	G	A	234442285	2	1	102	1	0	0	0	0	0	0	0	1	17079	1219	43	2		2	USP40	2	234442285	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	83526	234442285	8757088	133	6043											
DNAJB3	54578	genome.wustl.edu	37	chr2	234652241	234652241	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtcaaaggagaatgggtCctggccgccgaagaactccc	14	11	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234652241C>T	ENST00000305139.6	+	2	1000				UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000609767.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GAGAATGGGTCCTGGCCGCCG	0.617																																																	0								ENSG00000227802						44	51	49					2																	234652241		1848	4087	5935	DNAJB3	SO:0001627	intron_variant	0			-	HGNC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23439C>T	2.37:g.234652241C>T		Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	A6NKK6|B8K289|Q96TE7	RNA	SNP							-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			-	-		0.617	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	protein_coding	OTTHUMT00000130988.1	C	NM_205862	-		234652241	-1	no_errors	ENST00000449667	ensembl	human	known	74_37	rna	SNP	1.000	T	T	234652241	C	T	234652241	1	4	102	0	1	0	0	0	0	0	0	0	4623	855	30	2		2	DNAJB3	2	234652241	Intron	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	209956	234652241	8547132	134	6044											
COL6A3	1293	genome.wustl.edu	37	chr2	238280873	238280873	+	Missense_Mutation	SNP	C	C	G													ggtggtgtcaaagcccacgtCcaggtagtcaaccagcctct					rs376725775		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:238280873C>G	ENST00000295550.4	-	9	4239	c.3787G>C	c.(3787-3789)Gac>Cac	p.D1263H	COL6A3_ENST00000346358.4_Missense_Mutation_p.D1063H|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1057H|COL6A3_ENST00000392004.3_Missense_Mutation_p.D1057H|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1057H|COL6A3_ENST00000472056.1_Missense_Mutation_p.D656H|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1062H|COL6A3_ENST00000392003.2_Missense_Mutation_p.D856H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1263	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCCACGTCCAGGTAGTCA	0.577																																																	0								ENSG00000163359						50	47	48					2																	238280873		2203	4300	6503	COL6A3	SO:0001583	missense	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3787G>C	2.37:g.238280873C>G	ENSP00000295550:p.Asp1263His	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1263H	ENST00000295550.4	37	c.3787	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683382	0.68157	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.73	5.73	0.89815	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000024	D	0.92622	0.7656	M	0.85041	2.73	0.54753	D	0.999988	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.83275	0.996;0.995;0.993;0.996;0.969	D	0.92853	0.6299	10	0.56958	D	0.05	.	14.1021	0.65062	0.0:0.9283:0.0:0.0717	.	656;856;1057;1057;1263	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1263;1062;1057;656;1057;1063;1057;856	ENSP00000295550:D1263H;ENSP00000315609:D1062H;ENSP00000315873:D1057H;ENSP00000418285:D656H;ENSP00000386844:D1057H;ENSP00000295546:D1063H;ENSP00000375861:D1057H;ENSP00000375860:D856H	ENSP00000295550:D1263H	D	-	1	0	COL6A3	237945612	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.030000	0.49720	2.708000	0.92522	0.655000	0.94253	GAC	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.577	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238280873	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	SNP	1.000	G	G	238280873	C	G	238280873	3	3	102	1	0	0	0	0	1	0	0	0	3703	855	30	4	5937	4	COL6A3	2	238280873	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3628632	238280873	4918500	135	6045	72	2									
COL6A3	1293	genome.wustl.edu	37	chr2	238280874	238280874	+	Silent	SNP	C	C	T													gtggtgtcaaagcccacgtcCaggtagtcaaccagcctctc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:238280874C>T	ENST00000295550.4	-	9	4238	c.3786G>A	c.(3784-3786)ctG>ctA	p.L1262L	COL6A3_ENST00000346358.4_Silent_p.L1062L|COL6A3_ENST00000353578.4_Silent_p.L1056L|COL6A3_ENST00000392004.3_Silent_p.L1056L|COL6A3_ENST00000409809.1_Silent_p.L1056L|COL6A3_ENST00000472056.1_Silent_p.L655L|COL6A3_ENST00000347401.3_Silent_p.L1061L|COL6A3_ENST00000392003.2_Silent_p.L855L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1262	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCCCACGTCCAGGTAGTCAA	0.582																																																	0								ENSG00000163359						51	47	48					2																	238280874		2203	4300	6503	COL6A3	SO:0001819	synonymous_variant	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3786G>A	2.37:g.238280874C>T		Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L1262	ENST00000295550.4	37	c.3786	CCDS33412.1	2																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238280874	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	SNP	1.000	T	T	238280874	C	T	238280874	2	4	102	1	0	0	0	0	0	0	0	1	3703	581	21	2		2	COL6A3	2	238280874	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	238280874	4918499	136	6046	72	2									
ILKAP	80895	genome.wustl.edu	37	chr2	239098570	239098570	+	Silent	SNP	C	C	A													gtttttctctttgctcctttCccttcagtctttaccatctg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:239098570C>A	ENST00000254654.3	-	4	397	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	74					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCTCCTTTCCCTTCAGTCT	0.393																																																	0								ENSG00000132323						118	115	116					2																	239098570		2203	4300	6503	ILKAP	SO:0001819	synonymous_variant	0			-	HGNC	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.222G>T	2.37:g.239098570C>A		Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	B3KM39	Silent	SNP							pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.G74	ENST00000254654.3	37	c.222	CCDS2526.1	2																																																																																			-	NULL		0.393	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	protein_coding	OTTHUMT00000257163.2	C	NM_030768	-		239098570	-1	no_errors	ENST00000254654	ensembl	human	known	74_37	silent	SNP	1.000	A	A	239098570	C	A	239098570	2	1	102	1	0	0	0	0	0	0	0	1	7716	842	30	3		3	ILKAP	2	239098570	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	817696	239098570	4100803	137	6047	73	2									
ILKAP	80895	genome.wustl.edu	37	chr2	239098571	239098571	+	Missense_Mutation	SNP	C	C	T													tttttctctttgctcctttcCcttcagtctttaccatctgg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:239098571C>T	ENST00000254654.3	-	4	396	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	74					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGCTCCTTTCCCTTCAGTCTT	0.398																																																	0								ENSG00000132323						116	113	114					2																	239098571		2203	4300	6503	ILKAP	SO:0001583	missense	0			-	HGNC	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.221G>A	2.37:g.239098571C>T	ENSP00000254654:p.Gly74Glu	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	B3KM39	Missense_Mutation	SNP							pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.G74E	ENST00000254654.3	37	c.221	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821558	0.32237	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.41065	2.06;1.01	5.85	5.85	0.93711	.	0.694974	0.15067	N	0.282419	T	0.19765	0.0475	N	0.03608	-0.345	0.35737	D	0.818341	B	0.02656	0.0	B	0.01281	0.0	T	0.09185	-1.0686	10	0.02654	T	1	-0.1449	14.5395	0.67982	0.0:0.8534:0.1466:0.0	.	74	Q9H0C8	ILKAP_HUMAN	E	74	ENSP00000254654:G74E;ENSP00000395301:G74E	ENSP00000254654:G74E	G	-	2	0	ILKAP	238763310	0.536000	0.26378	1.000000	0.80357	0.993000	0.82548	0.733000	0.26087	2.773000	0.95371	0.585000	0.79938	GGG	-	NULL		0.398	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	protein_coding	OTTHUMT00000257163.2	C	NM_030768	-		239098571	-1	no_errors	ENST00000254654	ensembl	human	known	74_37	missense	SNP	1.000	T	T	239098571	C	T	239098571	3	4	102	1	0	0	0	0	1	0	0	0	7716	623	22	2	993	2	ILKAP	2	239098571	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	239098571	4100802	138	6048	73	2									
AQP12A	375318	genome.wustl.edu	37	chr2	241631582	241631582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcttcctggcgcacgGggtcaccttggacggggcct	14	15	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:241631582G>A	ENST00000337801.4	+	2	284	c.215G>A	c.(214-216)gGg>gAg	p.G72E	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.G84E	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	72						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTGGCGCACGGGGTCACCTTG	0.667																																																	0								ENSG00000184945						30	45	40					2																	241631582		2151	4265	6416	AQP12A	SO:0001583	missense	0			-	HGNC	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.215G>A	2.37:g.241631582G>A	ENSP00000337144:p.Gly72Glu	Somatic	0	185	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	73	19.78		Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.G84E	ENST00000337801.4	37	c.251		2	.	.	.	.	.	.	.	.	.	.	.	12.61	1.989564	0.35131	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.25250	1.81;1.81	2.58	2.58	0.30949	Aquaporin-like (2);	0.185774	0.46758	D	0.000264	T	0.48040	0.1478	M	0.78801	2.425	0.35769	D	0.820745	D	0.89917	1.0	D	0.80764	0.994	T	0.62348	-0.6873	10	0.62326	D	0.03	-0.4396	10.9317	0.47222	0.0:0.0:1.0:0.0	.	72	Q8IXF9	AQ12A_HUMAN	E	72;84;57	ENSP00000337144:G72E;ENSP00000405899:G84E	ENSP00000337144:G72E	G	+	2	0	AQP12A	241280255	1.000000	0.71417	0.668000	0.29813	0.072000	0.16883	3.634000	0.54302	1.474000	0.48178	0.186000	0.17326	GGG	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	protein_coding	OTTHUMT00000257185.2	G	NM_198998	-		241631582	1	no_errors	ENST00000429564	ensembl	human	known	74_37	missense	SNP	0.830	A	A	241631582	G	A	241631582	3	1	102	1	0	0	0	0	1	0	0	0	824	1232	43	2	221	2	AQP12A	2	241631582	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2533011	241631582	1567791	139	6049											
C3orf32	51066	genome.wustl.edu	37	chr3	8671360	8671360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactcaccgtgcccgccCcgtggcagccgctgcacttg	12	17	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:8671360C>T	ENST00000317371.4	-	14	1737	c.512G>A	c.(511-513)gGg>gAg	p.G171E	SSUH2_ENST00000341795.3_Missense_Mutation_p.G171E|SSUH2_ENST00000415132.1_Missense_Mutation_p.G171E|SSUH2_ENST00000544814.1_Missense_Mutation_p.G193E			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	171	Cys-rich.					cytoplasm (GO:0005737)											CGTGCCCGCCCCGTGGCAGCC	0.627																																																	0								ENSG00000125046						78	82	81					3																	8671360		2203	4300	6503	SSUH2	SO:0001583	missense	0			-	HGNC	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.512G>A	3.37:g.8671360C>T	ENSP00000324551:p.Gly171Glu	Somatic	0	95	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	53	43.01	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP							superfamily_HSP_DnaJ_Cys-rich_dom	p.G193E	ENST00000317371.4	37	c.578	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961425	0.53400	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.57907	0.37;0.37;0.38;0.37	4.68	4.68	0.58851	.	0.111334	0.64402	D	0.000010	T	0.73961	0.3654	M	0.86028	2.79	0.26657	N	0.971992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69224	-0.5201	10	0.87932	D	0	-36.8868	13.1227	0.59336	0.0:1.0:0.0:0.0	.	193;171	F5H2S5;Q9Y2M2	.;CC032_HUMAN	E	171;171;171;193	ENSP00000339150:G171E;ENSP00000324551:G171E;ENSP00000410757:G171E;ENSP00000439378:G193E	ENSP00000324551:G171E	G	-	2	0	C3orf32	8646360	0.922000	0.31269	0.130000	0.21974	0.408000	0.30992	4.337000	0.59310	2.154000	0.67381	0.467000	0.42956	GGG	-	superfamily_HSP_DnaJ_Cys-rich_dom		0.627	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	protein_coding	OTTHUMT00000337900.1	C	NM_015931	-		8671360	-1	no_errors	ENST00000544814	ensembl	human	known	74_37	missense	SNP	0.338	T	T	8671360	C	T	8671360	3	4	102	1	0	0	0	0	1	0	0	0	2224	623	22	2	573	2	C3orf32	3	8671360	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		8671360	189351070	140	6050											
SYN2	6854	genome.wustl.edu	37	chr3	12228961	12228972	+	RNA	DEL	TCTTCCTCCTCT	TCTTCCTCCTCT	-													catcactgccaccttcctccTcttcctcctcttcttcctcc					rs138835839|rs368520291|rs59427025	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	TCTTCCTCCTCT	TCTTCCTCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:12228961_12228972delTCTTCCTCCTCT	ENST00000432424.2	+	0	7794							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACcttcctcctcttcctcctcttcttcctcct	0.698														106	0.0211661	8e-04	0.0303	5008	,	,		14772	0.003		0.0497	False		,,,				2504	0.0317																0								ENSG00000157152			35,3593		6,23,1785						3	1		dbSNP_129	11	294,7306		35,224,3541	no	coding	SYN2	NM_133625.3		41,247,5326	A1A1,A1R,RR		3.8684,0.9647,2.9302				329,10899				SYN2			0				HGNC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12228961_12228972delTCTTCCTCCTCT		Somatic					0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MY98	RNA	DEL							-	NULL	ENST00000432424.2	37	NULL		3																																																																																			-	-		0.698	SYN2-002	KNOWN	basic	processed_transcript	SYN2	processed_transcript	OTTHUMT00000339528.3	TCTTCCTCCTCT	NM_133625			12228972	1	no_errors	ENST00000426379	ensembl	human	known	74_37	rna	DEL	1.000:0.996:0.365:0.980:1.000:1.000:1.000:1.000:1.000:0.994:0.994:0.904	-	-	12228972	TCTTCCTCCTCT	-	12228961	6	5	102	0	1	1	0	1	0	0	0	0	15448	1551	54	0		0	SYN2	3	12228961	RNA	DEL	TCTTCCTCCTCT	TCGA-DX-A8BP-01A-11D-A37C-09	3557601	12228961	185793469	141	6051											
C3orf20	84077	genome.wustl.edu	37	chr3	14756898	14756898	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acttccaggacagagaccctGctttccctggaatacaaggt	9	12	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:14756898G>C	ENST00000253697.3	+	9	1868	c.1416G>C	c.(1414-1416)ctG>ctC	p.L472L	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Silent_p.L350L|C3orf20_ENST00000412910.1_Silent_p.L350L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	472						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGAGACCCTGCTTTCCCTGG	0.562																																																	0								ENSG00000131379						103	88	93					3																	14756898		2203	4300	6503	C3orf20	SO:0001819	synonymous_variant	0			-	HGNC	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1416G>C	3.37:g.14756898G>C		Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP							NULL	p.L472	ENST00000253697.3	37	c.1416	CCDS33706.1	3																																																																																			-	NULL		0.562	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	protein_coding	OTTHUMT00000340586.1	G	NM_032137	-		14756898	1	no_errors	ENST00000253697	ensembl	human	known	74_37	silent	SNP	0.775	C	C	14756898	G	C	14756898	2	2	102	1	0	0	0	0	0	0	0	1	2215	1306	46	4		4	C3orf20	3	14756898	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2527937	14756898	183265532	142	6052											
CAPN7	23473	genome.wustl.edu	37	chr3	15283684	15283684	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggattctttgtgattttaGgatgattttgcgaataatcg	10	3	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:15283684G>A	ENST00000253693.2	+	16	2041		c.e16-1			NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7						positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TGTGATTTTAGGATGATTTTG	0.318																																																	0								ENSG00000131375						78	76	77					3																	15283684		2203	4295	6498	CAPN7	SO:0001630	splice_region_variant	0			-	HGNC	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1789-1G>A	3.37:g.15283684G>A		Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07		Splice_Site	SNP							-	e16-1	ENST00000253693.2	37	c.1789-1	CCDS2624.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475771	0.84640	.	.	ENSG00000131375	ENST00000253693	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.064	0.93103	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN7	15258688	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.757000	0.85209	2.590000	0.87494	0.561000	0.74099	.	-	-		0.318	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	protein_coding	OTTHUMT00000252105.2	G	NM_014296	-	Intron	15283684	1	no_errors	ENST00000253693	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	15283684	G	A	15283684	5	1	102	1	0	0	0	0	0	0	1	0	2633	1014	35	2	1850	2	CAPN7	3	15283684	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	526786	15283684	182738746	143	6053											
DYNC1LI1	51143	genome.wustl.edu	37	chr3	32574576	32574576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctattttcttatcattatCccaccctgctggactggaaa	5	12	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:32574576C>T	ENST00000273130.4	-	8	1085	c.982G>A	c.(982-984)Gat>Aat	p.D328N	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.D212N	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	328					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTATCATTATCCCACCCTGCT	0.303																																																	0								ENSG00000144635						65	71	69					3																	32574576		2203	4284	6487	DYNC1LI1	SO:0001583	missense	0			-	HGNC	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.982G>A	3.37:g.32574576C>T	ENSP00000273130:p.Asp328Asn	Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP							pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.D328N	ENST00000273130.4	37	c.982	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.333223	0.95758	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.37915	1.17;1.17	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.76192	-0.3049	10	0.87932	D	0	-20.8016	20.4192	0.99033	0.0:1.0:0.0:0.0	.	212;328	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	N	328;212	ENSP00000273130:D328N;ENSP00000407279:D212N	ENSP00000273130:D328N	D	-	1	0	DYNC1LI1	32549580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GAT	-	pfam_Dynein_light_int_chain		0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	protein_coding	OTTHUMT00000253250.1	C	NM_016141	-		32574576	-1	no_errors	ENST00000273130	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32574576	C	T	32574576	3	4	102	1	0	0	0	0	1	0	0	0	4846	855	30	2	613	2	DYNC1LI1	3	32574576	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	17290892	32574576	165447854	144	6054											
TRIM71	131405	genome.wustl.edu	37	chr3	32933059	32933059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctttctgggctcggaggGcacaggcaatgggcagttcc	15	11	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:32933059G>A	ENST00000383763.5	+	4	2426	c.2363G>A	c.(2362-2364)gGc>gAc	p.G788D		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	788					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTCGGAGGGCACAGGCAAT	0.587																																																	0								ENSG00000206557						51	55	54					3																	32933059		2015	4185	6200	TRIM71	SO:0001583	missense	0			-	HGNC		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2363G>A	3.37:g.32933059G>A	ENSP00000373272:p.Gly788Asp	Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46		Missense_Mutation	SNP							pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.G788D	ENST00000383763.5	37	c.2363	CCDS43060.1	3	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648022	0.67358	.	.	ENSG00000206557	ENST00000383763	D	0.89343	-2.5	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96787	0.9579	10	0.66056	D	0.02	-40.8851	18.6466	0.91413	0.0:0.0:1.0:0.0	.	788	Q2Q1W2	LIN41_HUMAN	D	788	ENSP00000373272:G788D	ENSP00000373272:G788D	G	+	2	0	TRIM71	32908063	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.824000	0.99380	2.744000	0.94065	0.655000	0.94253	GGC	-	pfscan_NHL_repeat_subgr		0.587	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	protein_coding	OTTHUMT00000341565.3	G	NM_001039111	-		32933059	1	no_errors	ENST00000383763	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32933059	G	A	32933059	3	1	102	1	0	0	0	0	1	0	0	0	16551	1203	42	2	2377	2	TRIM71	3	32933059	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	358483	32933059	165089371	145	6055											
GOLGA4	2803	genome.wustl.edu	37	chr3	37366733	37366733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaacagttaaagcagaagtCtgcccatgtgaattctcttg	10	8	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:37366733C>T	ENST00000361924.2	+	14	3730	c.3356C>T	c.(3355-3357)tCt>tTt	p.S1119F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1141F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1119	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGCAGAAGTCTGCCCATGTG	0.358																																																	0								ENSG00000144674						50	49	49					3																	37366733		2202	4297	6499	GOLGA4	SO:0001583	missense	0			-	HGNC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3356C>T	3.37:g.37366733C>T	ENSP00000354486:p.Ser1119Phe	Somatic	0	42	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP							pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.S1119F	ENST00000361924.2	37	c.3356	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370508	0.24771	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25579	1.8;1.79;1.8	5.42	3.57	0.40892	.	0.226767	0.22895	N	0.054321	T	0.27900	0.0687	L	0.53249	1.67	0.20074	N	0.999937	P;P;P;P	0.45474	0.859;0.773;0.603;0.716	P;P;B;B	0.45610	0.487;0.487;0.387;0.392	T	0.10543	-1.0625	10	0.62326	D	0.03	.	7.7587	0.28940	0.0:0.5933:0.3039:0.1029	.	1119;1119;1141;1119	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	F	1119;1141;990	ENSP00000354486:S1119F;ENSP00000349305:S1141F;ENSP00000405842:S990F	ENSP00000349305:S1141F	S	+	2	0	GOLGA4	37341737	0.999000	0.42202	0.823000	0.32752	0.193000	0.23685	2.958000	0.49145	0.626000	0.30322	-0.176000	0.13171	TCT	-	NULL		0.358	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	protein_coding	OTTHUMT00000253339.2	C	NM_002078	-		37366733	1	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	SNP	0.359	T	T	37366733	C	T	37366733	3	4	102	1	0	0	0	0	1	0	0	0	6557	913	32	2	3480	2	GOLGA4	3	37366733	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4433674	37366733	160655697	146	6056											
CX3CR1	1524	genome.wustl.edu	37	chr3	39307107	39307107	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaggtatcttctgaacttCtccccagcaaatgcatagat	6	10	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:39307107C>T	ENST00000541347.1	-	2	1133	c.894G>A	c.(892-894)gaG>gaA	p.E298E	CX3CR1_ENST00000358309.3_Silent_p.E330E|CX3CR1_ENST00000399220.2_Silent_p.E298E|CX3CR1_ENST00000542107.1_Silent_p.E298E	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	298					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTCTGAACTTCTCCCCAGCAA	0.498																																																	0								ENSG00000168329						127	128	128					3																	39307107		1972	4162	6134	CX3CR1	SO:0001819	synonymous_variant	0			-	HGNC	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.894G>A	3.37:g.39307107C>T		Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	32	39.62	A0N0N6|B2R5Z4|J3KP17	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.E330	ENST00000541347.1	37	c.990	CCDS43069.1	3																																																																																			-	prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.498	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	protein_coding	OTTHUMT00000343613.1	C	NM_001337	-		39307107	-1	no_errors	ENST00000358309	ensembl	human	known	74_37	silent	SNP	0.990	T	T	39307107	C	T	39307107	2	4	102	1	0	0	0	0	0	0	0	1	4077	912	32	2		2	CX3CR1	3	39307107	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1940374	39307107	158715323	147	6057											
ULK4	54986	genome.wustl.edu	37	chr3	41497047	41497047	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgagcagcagcaggtcttCtgcagcctgagggtcctctc	13	12	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:41497047C>T	ENST00000301831.4	-	34	3895	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1145					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCAGGTCTTCTGCAGCCTGA	0.512																																																	0								ENSG00000168038						97	100	99					3																	41497047		1925	4140	6065	ULK4	SO:0001583	missense	0			-	HGNC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3433G>A	3.37:g.41497047C>T	ENSP00000301831:p.Glu1145Lys	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.55	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E1145K	ENST00000301831.4	37	c.3433	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710984	0.89112	.	.	ENSG00000168038	ENST00000301831	T	0.66815	-0.23	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.45126	U	0.000398	T	0.79305	0.4423	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80828	-0.1208	10	0.87932	D	0	.	19.1143	0.93331	0.0:1.0:0.0:0.0	.	1145	Q96C45	ULK4_HUMAN	K	1145	ENSP00000301831:E1145K	ENSP00000301831:E1145K	E	-	1	0	ULK4	41472051	1.000000	0.71417	0.905000	0.35620	0.704000	0.40688	5.634000	0.67833	2.534000	0.85438	0.655000	0.94253	GAA	-	superfamily_ARM-type_fold		0.512	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	protein_coding	OTTHUMT00000343490.1	C	XM_929989	-		41497047	-1	no_errors	ENST00000301831	ensembl	human	known	74_37	missense	SNP	0.995	T	T	41497047	C	T	41497047	3	4	102	1	0	0	0	0	1	0	0	0	16985	922	32	2	410	2	ULK4	3	41497047	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2189940	41497047	156525383	148	6058											
FYCO1	79443	genome.wustl.edu	37	chr3	46008746	46008746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccttctctgccatctGggctttcatggcctccttgg	10	15	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:46008746G>T	ENST00000296137.2	-	8	2285	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q694K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	694					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTGCCATCTGGGCTTTCATG	0.637																																																	0								ENSG00000163820						98	103	101					3																	46008746		2203	4300	6503	FYCO1	SO:0001583	missense	0			-	HGNC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2080C>A	3.37:g.46008746G>T	ENSP00000296137:p.Gln694Lys	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP							pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.Q694K	ENST00000296137.2	37	c.2080	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	G	9.373	1.071026	0.20147	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.24723	1.86;1.84	5.77	2.97	0.34412	.	0.437541	0.27008	N	0.021391	T	0.25121	0.0610	L	0.53249	1.67	0.26011	N	0.981983	B;B	0.32939	0.329;0.391	B;B	0.26693	0.032;0.072	T	0.03945	-1.0990	10	0.48119	T	0.1	-0.3973	16.0108	0.80402	0.0:0.0:0.6547:0.3453	.	694;694	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	694	ENSP00000296137:Q694K;ENSP00000441178:Q694K	ENSP00000296137:Q694K	Q	-	1	0	FYCO1	45983750	1.000000	0.71417	0.780000	0.31762	0.907000	0.53573	3.073000	0.50057	0.078000	0.16900	-0.808000	0.03180	CAG	-	superfamily_Prefoldin		0.637	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	protein_coding	OTTHUMT00000257320.2	G	NM_024513	-		46008746	-1	no_errors	ENST00000535325	ensembl	human	known	74_37	missense	SNP	0.997	T	T	46008746	G	T	46008746	3	4	102	1	0	0	0	0	1	0	0	0	6127	1357	47	3	2400	3	FYCO1	3	46008746	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4511699	46008746	152013684	149	6059											
KLHL18	23276	genome.wustl.edu	37	chr3	47374754	47374754	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctctgtcggccccagttCctttcagacagagtacagca	8	16	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:47374754C>T	ENST00000232766.5	+	5	728	c.708C>T	c.(706-708)ttC>ttT	p.F236F	KLHL18_ENST00000455924.2_Silent_p.F124F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	236	BACK.									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)		GGCCCCAGTTCCTTTCAGACA	0.592																																																	0								ENSG00000114648						74	66	69					3																	47374754		2203	4300	6503	KLHL18	SO:0001819	synonymous_variant	0			-	HGNC	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.708C>T	3.37:g.47374754C>T		Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	34	46.03	A8K612|Q7Z3E8|Q8N125	Silent	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F236	ENST00000232766.5	37	c.708	CCDS33749.1	3																																																																																			-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.592	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	protein_coding	OTTHUMT00000344493.1	C	NM_025010	-		47374754	1	no_errors	ENST00000232766	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47374754	C	T	47374754	2	4	102	1	0	0	0	0	0	0	0	1	8375	854	30	2		2	KLHL18	3	47374754	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1366008	47374754	150647676	150	6060											
PLXNB1	5364	genome.wustl.edu	37	chr3	48461037	48461037	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtcgaggctggacgggagGatgaggggggcgggagggcc	24	6	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:48461037G>A	ENST00000358536.4	-	11	2927	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	PLXNB1_ENST00000358459.4_Silent_p.I703I|PLXNB1_ENST00000456774.1_Silent_p.I703I|PLXNB1_ENST00000296440.6_Silent_p.I886I|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	886					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)		TGGACGGGAGGATGAGGGGGG	0.672																																																	0								ENSG00000164050						19	24	22					3																	48461037		2173	4248	6421	PLXNB1	SO:0001819	synonymous_variant	0			-	HGNC	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.2658C>T	3.37:g.48461037G>A		Somatic	0	10	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	9	59.09	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.S692F	ENST00000358536.4	37	c.2075	CCDS2765.1	3																																																																																			-	NULL		0.672	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	G	NM_002673	-		48461037	-1	no_errors	ENST00000449094	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48461037	G	A	48461037	2	1	102	1	0	0	0	0	0	0	0	1	12125	1164	41	2		2	PLXNB1	3	48461037	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1086283	48461037	149561393	151	6061											
MST1R	4486	genome.wustl.edu	37	chr3	49934060	49934060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccacagatggtgatgtgGgagttgctgtggaagagggt	19	4	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:49934060G>A	ENST00000296474.3	-	9	2379	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.S784S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	784	IPT/TIG 3.				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)		TGGTGATGTGGGAGTTGCTGT	0.547																																																	0								ENSG00000164078						136	119	125					3																	49934060		2203	4300	6503	MST1R	SO:0001819	synonymous_variant	0			-	HGNC	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.2352C>T	3.37:g.49934060G>A		Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	38	43.28	B5A944|B5A945|B5A946|B5A947	Silent	SNP							pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S784	ENST00000296474.3	37	c.2352	CCDS2807.1	3																																																																																			-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT		0.547	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	G		-		49934060	-1	no_errors	ENST00000296474	ensembl	human	known	74_37	silent	SNP	0.930	A	A	49934060	G	A	49934060	2	1	102	1	0	0	0	0	0	0	0	1	9893	1219	43	2		2	MST1R	3	49934060	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1473023	49934060	148088370	152	6062											
DOCK3	1795	genome.wustl.edu	37	chr3	51297659	51297659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagccacttgtggaatggaaGaggaacaattcagatccagt	12	7	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:51297659G>A	ENST00000266037.9	+	23	2280	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	753					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGAATGGAAGAGGAACAATT	0.458																																																	0								ENSG00000088538						96	97	97					3																	51297659		1949	4148	6097	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2257G>A	3.37:g.51297659G>A	ENSP00000266037:p.Glu753Lys	Somatic	0	101	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	O15017	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E753K	ENST00000266037.9	37	c.2257	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.923024	0.97110	.	.	ENSG00000088538	ENST00000266037	T	0.68903	-0.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.77925	-0.2405	10	0.34782	T	0.22	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	753	Q8IZD9	DOCK3_HUMAN	K	753	ENSP00000266037:E753K	ENSP00000266037:E753K	E	+	1	0	DOCK3	51272699	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAG	-	superfamily_ARM-type_fold		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	G	NM_004947	-		51297659	1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51297659	G	A	51297659	3	1	102	1	0	0	0	0	1	0	0	0	4690	943	33	2	2347	2	DOCK3	3	51297659	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1363599	51297659	146724771	153	6063											
PTPRG	5793	genome.wustl.edu	37	chr3	62189327	62189327	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctgccgaggagcggaatCagacggagcccagccccaca	13	15	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:62189327C>T	ENST00000474889.1	+	12	2235	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q620*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	620					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)			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)		GGAGCGGAATCAGACGGAGCC	0.622																																																	0								ENSG00000144724						75	52	60					3																	62189327		2180	4271	6451	PTPRG	SO:0001587	stop_gained	0			-	HGNC	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.1858C>T	3.37:g.62189327C>T	ENSP00000418112:p.Gln620*	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.Q620*	ENST00000474889.1	37	c.1858	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.979258	0.97979	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	4.39	0.847	0.18961	.	1.148540	0.06246	N	0.691249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.3743	0.11263	0.1998:0.5661:0.1446:0.0895	.	.	.	.	X	620	.	ENSP00000295874:Q620X	Q	+	1	0	PTPRG	62164367	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.813000	0.27225	0.407000	0.25591	0.591000	0.81541	CAG	-	NULL		0.622	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841	-		62189327	1	no_errors	ENST00000474889	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	62189327	C	T	62189327	4	4	102	1	0	0	0	0	0	1	0	0	12810	827	29	2	1904	2	PTPRG	3	62189327	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	10891668	62189327	135833103	154	6064											
CADPS	8618	genome.wustl.edu	37	chr3	62570972	62570972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccactctgactgtttggGgctgttcggggtgggatgga	18	7	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:62570972G>A	ENST00000383710.4	-	8	1814	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	CADPS_ENST00000283269.9_Missense_Mutation_p.P489S|CADPS_ENST00000357948.3_Missense_Mutation_p.P489S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	489					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)	p.P489T(2)		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)		GACTGTTTGGGGCTGTTCGGG	0.418																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000163618						169	169	169					3																	62570972		2203	4300	6503	CADPS	SO:0001583	missense	0			-	HGNC	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.1465C>T	3.37:g.62570972G>A	ENSP00000373215:p.Pro489Ser	Somatic	1	110	0.9		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	33	62.50	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP							pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P489S	ENST00000383710.4	37	c.1465	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	G	7.967	0.748183	0.15710	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.70869	-0.52;-0.52;-0.52	5.84	5.84	0.93424	C2 calcium-dependent membrane targeting (1);	0.057615	0.64402	D	0.000001	T	0.69655	0.3135	N	0.11106	0.095	0.80722	D	1	B;P;D	0.89917	0.028;0.793;1.0	B;B;D	0.83275	0.044;0.396;0.996	T	0.62548	-0.6831	10	0.06236	T	0.91	.	20.1434	0.98067	0.0:0.0:1.0:0.0	.	489;489;489	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	S	489	ENSP00000373215:P489S;ENSP00000350632:P489S;ENSP00000283269:P489S	ENSP00000283269:P489S	P	-	1	0	CADPS	62546012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.769000	0.95229	0.563000	0.77884	CCC	-	superfamily_C2_dom		0.418	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394	-		62570972	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62570972	G	A	62570972	3	1	102	1	0	0	0	0	1	0	0	0	2572	1232	43	2	2761	2	CADPS	3	62570972	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	381645	62570972	135451458	155	6065											
PRICKLE2	166336	genome.wustl.edu	37	chr3	64085357	64085357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatgcatccttccgtgGgactgcaggtctctgtagcc	11	13	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:64085357G>A	ENST00000295902.6	-	8	2490	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S691S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	635					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)		TCCTTCCGTGGGACTGCAGGT	0.592																																																	0								ENSG00000163637						105	95	98					3																	64085357		2203	4300	6503	PRICKLE2	SO:0001819	synonymous_variant	0			-	HGNC	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.1905C>T	3.37:g.64085357G>A		Somatic	0	26	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	Q0VF44	Silent	SNP							pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S635	ENST00000295902.6	37	c.1905	CCDS2902.1	3																																																																																			-	NULL		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	protein_coding	OTTHUMT00000352219.1	G	NM_198859	-		64085357	-1	no_errors	ENST00000295902	ensembl	human	known	74_37	silent	SNP	0.854	A	A	64085357	G	A	64085357	2	1	102	1	0	0	0	0	0	0	0	1	12492	1219	43	2		2	PRICKLE2	3	64085357	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1514385	64085357	133937073	156	6066											
PROK2	60675	genome.wustl.edu	37	chr3	71830639	71830639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgagtcagtggatggcaGctgtctcccagtttgcccat	11	11	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:71830639G>A	ENST00000295619.3	-	2	209	c.201C>T	c.(199-201)agC>agT	p.S67S	PROK2_ENST00000353065.3_Silent_p.S67S	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	67					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		GTGGATGGCAGCTGTCTCCCA	0.468																																																	0								ENSG00000163421						120	110	114					3																	71830639		2203	4300	6503	PROK2	SO:0001819	synonymous_variant	0			-	HGNC	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"Endogenous ligands"	18455	protein-coding gene	gene with protein product	"protein Bv8 homolog"	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.201C>T	3.37:g.71830639G>A		Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	Q53Z79|Q6ISR0	Silent	SNP							pfam_Prokineticin_domain	p.S67	ENST00000295619.3	37	c.201	CCDS46868.1	3																																																																																			-	pfam_Prokineticin_domain		0.468	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROK2	protein_coding	OTTHUMT00000352302.1	G	NM_001126128	-		71830639	-1	no_errors	ENST00000295619	ensembl	human	known	74_37	silent	SNP	1.000	A	A	71830639	G	A	71830639	2	1	102	1	0	0	0	0	0	0	0	1	12556	962	34	2		2	PROK2	3	71830639	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7745282	71830639	126191791	157	6067											
GBE1	2632	genome.wustl.edu	37	chr3	81754754	81754754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcaaaatttggctaaActgcttatacctttgaagaa	6	7	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:81754754A>G	ENST00000429644.2	-	2	797	c.154T>C	c.(154-156)Ttt>Ctt	p.F52L	GBE1_ENST00000489715.1_Missense_Mutation_p.F11L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	52					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATTTGGCTAAACTGCTTATAC	0.338									Glycogen Storage Disease, type IV																																								0								ENSG00000114480						35	31	32					3																	81754754		1807	4061	5868	GBE1	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-	HGNC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.154T>C	3.37:g.81754754A>G	ENSP00000410833:p.Phe52Leu	Somatic	0	42	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	14	57.14	B3KWV3|Q96EN0	Missense_Mutation	SNP							pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.F52L	ENST00000429644.2	37	c.154	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843185	0.32606	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.16457	2.34;2.35	5.64	5.64	0.86602	.	0.055061	0.85682	D	0.000000	T	0.18635	0.0447	L	0.48174	1.505	0.45239	D	0.998242	B;B	0.14805	0.009;0.011	B;B	0.17979	0.008;0.02	T	0.02075	-1.1218	10	0.34782	T	0.22	-21.228	15.5856	0.76479	1.0:0.0:0.0:0.0	.	11;52	E9PGM4;Q04446	.;GLGB_HUMAN	L	52;103;11	ENSP00000410833:F52L;ENSP00000419638:F11L	ENSP00000264326:F103L	F	-	1	0	GBE1	81837444	1.000000	0.71417	0.125000	0.21846	0.442000	0.32017	5.992000	0.70609	2.167000	0.68274	0.456000	0.33151	TTT	-	NULL		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	protein_coding	OTTHUMT00000352760.2	A		-		81754754	-1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	SNP	0.898	G	G	81754754	A	G	81754754	3	3	102	1	0	0	0	0	1	0	0	0	6272	43	2	5	2014	5	GBE1	3	81754754	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	9924115	81754754	116267676	158	6068											
BBX	56987	genome.wustl.edu	37	chr3	107474465	107474465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcttcaaacacttcgcaGttgggtggtgctgagcctgt	11	9	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:107474465G>A	ENST00000325805.8	+	10	1133	c.846G>A	c.(844-846)caG>caA	p.Q282Q	BBX_ENST00000406780.1_Silent_p.Q282Q|BBX_ENST00000402543.1_Silent_p.Q282Q|BBX_ENST00000416476.2_Silent_p.Q282Q|BBX_ENST00000415149.2_Silent_p.Q282Q			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	282					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACACTTCGCAGTTGGGTGGTG	0.388																																																	0								ENSG00000114439						121	130	127					3																	107474465		2203	4300	6503	BBX	SO:0001819	synonymous_variant	0			-	HGNC	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.846G>A	3.37:g.107474465G>A		Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP							pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q282	ENST00000325805.8	37	c.846	CCDS46881.1	3																																																																																			-	pfam_TF_HMG_box_BBX_DUF2028		0.388	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	protein_coding	OTTHUMT00000317820.1	G	NM_020235	-		107474465	1	no_errors	ENST00000325805	ensembl	human	known	74_37	silent	SNP	0.972	A	A	107474465	G	A	107474465	2	1	102	1	0	0	0	0	0	0	0	1	1343	1020	36	2		2	BBX	3	107474465	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	25719711	107474465	90547965	159	6069											
MORC1	27136	genome.wustl.edu	37	chr3	108778673	108778673	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttgtttctctttaagattCttttgctttgcttctacatc	4	9	3	1	rs564959353		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:108778673C>T	ENST00000483760.1	-	12	1054	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000232603.5_Silent_p.K337K					MORC family CW-type zinc finger 1									p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000114487						156	134	141					3																	108778673		2203	4299	6502	MORC1	SO:0001819	synonymous_variant	0			-	HGNC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1011G>A	3.37:g.108778673C>T		Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62		Silent	SNP							pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.K337	ENST00000483760.1	37	c.1011		3																																																																																			-	NULL		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	C		-		108778673	-1	no_errors	ENST00000232603	ensembl	human	known	74_37	silent	SNP	0.007	T	T	108778673	C	T	108778673	2	4	102	1	0	0	0	0	0	0	0	1	9703	912	32	2		2	MORC1	3	108778673	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1304208	108778673	89243757	160	6070											
PLA1A	51365	genome.wustl.edu	37	chr3	119325719	119325719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtttctcctctttgtcCcttcgaatcctagctgtggg	8	13	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:119325719C>T	ENST00000273371.4	+	2	244	c.172C>T	c.(172-174)Cct>Tct	p.P58S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P58S|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.P42S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	58					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTTGTCCCTTCGAATCC	0.507																																																	0								ENSG00000144837						151	154	153					3																	119325719		2203	4300	6503	PLA1A	SO:0001583	missense	0			-	HGNC	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.172C>T	3.37:g.119325719C>T	ENSP00000273371:p.Pro58Ser	Somatic	0	51	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP							pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.P58S	ENST00000273371.4	37	c.172	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	C	5.695	0.312688	0.10789	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.93019	-3.15;-3.15;-3.15	5.04	3.23	0.37069	Lipase, N-terminal (1);	0.277004	0.42294	N	0.000729	D	0.84279	0.5437	L	0.31420	0.93	0.09310	N	1	B;B	0.23058	0.079;0.007	B;B	0.20184	0.028;0.012	T	0.67051	-0.5768	10	0.08837	T	0.75	-2.579	4.5858	0.12282	0.1775:0.644:0.0:0.1785	.	58;58	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	58;58;42	ENSP00000273371:P58S;ENSP00000417326:P58S;ENSP00000418793:P42S	ENSP00000273371:P58S	P	+	1	0	PLA1A	120808409	0.006000	0.16342	0.069000	0.20011	0.278000	0.26855	0.332000	0.19751	0.817000	0.34445	0.655000	0.94253	CCT	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	protein_coding	OTTHUMT00000355252.2	C		-		119325719	1	no_errors	ENST00000273371	ensembl	human	known	74_37	missense	SNP	0.026	T	T	119325719	C	T	119325719	3	4	102	1	0	0	0	0	1	0	0	0	11990	623	22	2	178	2	PLA1A	3	119325719	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	10547046	119325719	78696711	161	6071											
PLA1A	51365	genome.wustl.edu	37	chr3	119325815	119325815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccaaactaattatccatGgattcaggtgggagttaaat	9	6	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:119325815G>A	ENST00000273371.4	+	2	340	c.268G>A	c.(268-270)Gga>Aga	p.G90R	PLA1A_ENST00000495992.1_Missense_Mutation_p.G90R|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.G74R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	90					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATTATCCATGGATTCAGGTG	0.443																																																	0								ENSG00000144837						105	110	108					3																	119325815		2203	4300	6503	PLA1A	SO:0001583	missense	0			-	HGNC	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.268G>A	3.37:g.119325815G>A	ENSP00000273371:p.Gly90Arg	Somatic	0	28	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP							pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G90R	ENST00000273371.4	37	c.268	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373678	0.82573	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.99051	-5.37;-5.37;-5.37	4.67	4.67	0.58626	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	M	0.93594	3.435	0.51233	D	0.999912	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98342	1.0539	10	0.87932	D	0	-12.1617	14.953	0.71088	0.0:0.0:1.0:0.0	.	90;90	Q53H76-3;Q53H76	.;PLA1A_HUMAN	R	90;90;74	ENSP00000273371:G90R;ENSP00000417326:G90R;ENSP00000418793:G74R	ENSP00000273371:G90R	G	+	1	0	PLA1A	120808505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.672000	0.68102	2.595000	0.87683	0.655000	0.94253	GGA	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.443	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	protein_coding	OTTHUMT00000355252.2	G		-		119325815	1	no_errors	ENST00000273371	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119325815	G	A	119325815	3	1	102	1	0	0	0	0	1	0	0	0	11990	1349	47	2	274	2	PLA1A	3	119325815	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	96	119325815	78696615	162	6072											
GPR156	165829	genome.wustl.edu	37	chr3	119887100	119887100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctaccgcctggacgtcCttgttcggggaagaggcagg	17	10	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:119887100C>T	ENST00000464295.1	-	10	1669	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	GPR156_ENST00000315843.3_Silent_p.K408K|GPR156_ENST00000461057.1_Silent_p.K404K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	408						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTGGACGTCCTTGTTCGGGG	0.602																																																	0								ENSG00000175697						29	35	33					3																	119887100		2203	4299	6502	GPR156	SO:0001819	synonymous_variant	0			-	HGNC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1224G>A	3.37:g.119887100C>T		Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.K408	ENST00000464295.1	37	c.1224	CCDS2997.1	3																																																																																			-	NULL		0.602	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	protein_coding	OTTHUMT00000355139.1	C	NM_153002	-		119887100	-1	no_errors	ENST00000315843	ensembl	human	known	74_37	silent	SNP	0.000	T	T	119887100	C	T	119887100	2	4	102	1	0	0	0	0	0	0	0	1	6663	680	24	2		2	GPR156	3	119887100	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	561285	119887100	78135330	163	6073											
POLQ	10721	genome.wustl.edu	37	chr3	121203989	121203989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcacaacctttaatgGgaaatccatcatctctaata	4	10	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:121203989G>A	ENST00000264233.5	-	17	5800	c.5672C>T	c.(5671-5673)cCc>cTc	p.P1891L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1891					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCTTTAATGGGAAATCCATC	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						118	113	115					3																	121203989		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5672C>T	3.37:g.121203989G>A	ENSP00000264233:p.Pro1891Leu	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	19	55.81	O95160|Q6VMB5	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1891L	ENST00000264233.5	37	c.5672	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588948	0.28357	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.63	3.78	0.43462	.	0.132000	0.51477	D	0.000096	T	0.52224	0.1721	L	0.40543	1.245	0.44652	D	0.997636	B;D	0.57899	0.049;0.981	B;P	0.55508	0.018;0.777	T	0.43114	-0.9411	10	0.17832	T	0.49	.	10.7884	0.46419	0.0681:0.0:0.801:0.1309	.	1891;1063	O75417;O75417-2	DPOLQ_HUMAN;.	L	1514;1891;2027	ENSP00000264233:P1891L	ENSP00000264233:P1891L	P	-	2	0	POLQ	122686679	1.000000	0.71417	0.761000	0.31378	0.093000	0.18481	3.909000	0.56363	1.404000	0.46819	-0.136000	0.14681	CCC	-	NULL		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	G	NM_199420	-		121203989	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	0.981	A	A	121203989	G	A	121203989	3	1	102	1	0	0	0	0	1	0	0	0	12210	1232	43	2	2156	2	POLQ	3	121203989	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1316889	121203989	76818441	164	6074											
HCLS1	3059	genome.wustl.edu	37	chr3	121356022	121356022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcgtgtttctccgtctctCccttgtagtcatatcccaga	6	14	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:121356022C>T	ENST00000314583.3	-	7	627	c.536G>A	c.(535-537)gGa>gAa	p.G179E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Intron	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	179					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)		CTCCGTCTCTCCCTTGTAGTC	0.537																																																	0								ENSG00000180353						177	151	160					3																	121356022		2203	4300	6503	HCLS1	SO:0001583	missense	0			-	HGNC		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.536G>A	3.37:g.121356022C>T	ENSP00000320176:p.Gly179Glu	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	26	40.91	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP							pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.G179E	ENST00000314583.3	37	c.536	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118497	0.56505	.	.	ENSG00000180353	ENST00000314583	T	0.15718	2.4	5.03	5.03	0.67393	.	0.115902	0.64402	D	0.000006	T	0.10465	0.0256	N	0.17764	0.52	0.80722	D	1	P	0.37207	0.587	B	0.38225	0.268	T	0.21484	-1.0244	10	0.13470	T	0.59	-14.1073	9.4787	0.38887	0.0:0.9027:0.0:0.0972	.	179	P14317	HCLS1_HUMAN	E	179	ENSP00000320176:G179E	ENSP00000320176:G179E	G	-	2	0	HCLS1	122838712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.515000	0.45512	2.328000	0.79073	0.563000	0.77884	GGA	-	pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin		0.537	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	protein_coding	OTTHUMT00000355144.1	C	NM_005335	-		121356022	-1	no_errors	ENST00000314583	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121356022	C	T	121356022	3	4	102	1	0	0	0	0	1	0	0	0	6997	855	30	2	956	2	HCLS1	3	121356022	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	152033	121356022	76666408	165	6075											
SLC15A2	6565	genome.wustl.edu	37	chr3	121634085	121634085	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtttcaggcagaggaacgGactagatacttctcagtctt	10	8	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:121634085G>A	ENST00000489711.1	+	6	928	c.540G>A	c.(538-540)cgG>cgA	p.R180R	SLC15A2_ENST00000295605.2_Silent_p.R149R	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	180					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGAGGAACGGACTAGATACT	0.468																																																	0								ENSG00000163406						178	154	162					3																	121634085		2203	4300	6503	SLC15A2	SO:0001819	synonymous_variant	0			-	HGNC	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.540G>A	3.37:g.121634085G>A		Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	A8K1A5|B4E2A7	Silent	SNP							pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.R180	ENST00000489711.1	37	c.540	CCDS3007.1	3																																																																																			-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.468	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	protein_coding	OTTHUMT00000355239.1	G	NM_021082	-		121634085	1	no_errors	ENST00000489711	ensembl	human	known	74_37	silent	SNP	0.877	A	A	121634085	G	A	121634085	2	1	102	1	0	0	0	0	0	0	0	1	14407	1161	41	2		2	SLC15A2	3	121634085	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	278063	121634085	76388345	166	6076											
KALRN	8997	genome.wustl.edu	37	chr3	123946890	123946890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtccttcctatcctaaagGaaaaggtggccttcgtgtct	9	10	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:123946890G>A	ENST00000240874.3	+	2	278	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	KALRN_ENST00000460856.1_Missense_Mutation_p.E41K|KALRN_ENST00000360013.3_Missense_Mutation_p.E41K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	41	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TATCCTAAAGGAAAAGGTGGC	0.458																																																	0								ENSG00000160145						263	252	256					3																	123946890		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.121G>A	3.37:g.123946890G>A	ENSP00000240874:p.Glu41Lys	Somatic	0	104	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E41K	ENST00000240874.3	37	c.121	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406574	0.83230	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	D;D;D	0.83419	-1.72;-1.72;-1.72	5.12	5.12	0.69794	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.64402	D	0.000001	D	0.84061	0.5389	N	0.25286	0.73	0.80722	D	1	P;D;P	0.63880	0.877;0.993;0.925	B;D;P	0.70935	0.339;0.971;0.54	T	0.78836	-0.2047	10	0.11794	T	0.64	.	18.7347	0.91750	0.0:0.0:1.0:0.0	.	41;41;41	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	K	41	ENSP00000418611:E41K;ENSP00000240874:E41K;ENSP00000353109:E41K	ENSP00000240874:E41K	E	+	1	0	KALRN	125429580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.262000	0.89862	2.659000	0.90383	0.650000	0.86243	GAA	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.458	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000258843.4	G	NM_003947	-		123946890	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123946890	G	A	123946890	3	1	102	1	0	0	0	0	1	0	0	0	7977	1175	41	2	127	2	KALRN	3	123946890	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2312805	123946890	74075540	167	6077											
KLF15	28999	genome.wustl.edu	37	chr3	126071535	126071535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggacaataggaagtcCaagatgctgtcctggctctc	12	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:126071535C>T	ENST00000296233.3	-	2	461	c.231G>A	c.(229-231)ttG>ttA	p.L77L	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	77					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)		ATAGGAAGTCCAAGATGCTGT	0.682																																																	0								ENSG00000163884						12	11	11					3																	126071535		2196	4292	6488	KLF15	SO:0001819	synonymous_variant	0			-	HGNC	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.231G>A	3.37:g.126071535C>T		Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85		Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L77	ENST00000296233.3	37	c.231	CCDS3036.1	3																																																																																			-	NULL		0.682	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	protein_coding	OTTHUMT00000370096.1	C	NM_014079	-		126071535	-1	no_errors	ENST00000296233	ensembl	human	known	74_37	silent	SNP	1.000	T	T	126071535	C	T	126071535	2	4	102	1	0	0	0	0	0	0	0	1	8345	593	21	2		2	KLF15	3	126071535	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2124645	126071535	71950895	168	6078											
CCDC37	348807	genome.wustl.edu	37	chr3	126142403	126142403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagagctggaggagcagaAcctgtcgctgatccagaaca	13	11	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:126142403A>G	ENST00000352312.1	+	13	1301	c.1202A>G	c.(1201-1203)aAc>aGc	p.N401S	CCDC37_ENST00000505024.1_Missense_Mutation_p.N402S|CCDC37_ENST00000393425.1_Missense_Mutation_p.N402S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	401										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGGAGCAGAACCTGTCGCTG	0.587																																																	0								ENSG00000163885						87	75	79					3																	126142403		2203	4300	6503	CCDC37	SO:0001583	missense	0			-	HGNC	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1202A>G	3.37:g.126142403A>G	ENSP00000344749:p.Asn401Ser	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP							superfamily_SuperAg_toxin_C	p.N402S	ENST00000352312.1	37	c.1205	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252284	0.80135	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.51325	0.71;0.71;0.71	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.77892	-0.2418	10	0.72032	D	0.01	-46.2748	12.5537	0.56242	1.0:0.0:0.0:0.0	.	402;401	Q494V2-2;Q494V2	.;CCD37_HUMAN	S	401;402;402	ENSP00000344749:N401S;ENSP00000377076:N402S;ENSP00000423046:N402S	ENSP00000344749:N401S	N	+	2	0	CCDC37	127625093	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.239000	0.89811	1.853000	0.53794	0.402000	0.26972	AAC	-	NULL		0.587	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	protein_coding	OTTHUMT00000370099.4	A	NM_182628	-		126142403	1	no_errors	ENST00000393425	ensembl	human	known	74_37	missense	SNP	1.000	G	G	126142403	A	G	126142403	3	3	102	1	0	0	0	0	1	0	0	0	2811	43	2	5	1248	5	CCDC37	3	126142403	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	70868	126142403	71880027	169	6079											
COL6A5	256076	genome.wustl.edu	37	chr3	130098458	130098458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgccaagactatttcttttCttaaatcaagcacaacccaa	4	11	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:130098458C>T	ENST00000432398.2	+	4	1359	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	COL6A5_ENST00000265379.6_Missense_Mutation_p.L289F	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	289	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATTTCTTTTCTTAAATCAAG	0.413																																																	0								ENSG00000172752						101	89	92					3																	130098458		692	1591	2283	COL6A5	SO:0001583	missense	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.865C>T	3.37:g.130098458C>T	ENSP00000390895:p.Leu289Phe	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L289F	ENST00000432398.2	37	c.865		3	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689833	0.29962	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.87887	-2.31;-2.31	5.06	5.06	0.68205	.	.	.	.	.	D	0.92681	0.7674	M	0.76838	2.35	0.44843	D	0.997853	D	0.76494	0.999	D	0.69142	0.962	D	0.91312	0.5075	9	0.27785	T	0.31	.	17.1985	0.86900	0.0:1.0:0.0:0.0	.	289	A8TX70-2	.	F	289	ENSP00000390895:L289F;ENSP00000265379:L289F	ENSP00000265379:L289F	L	+	1	0	COL6A5	131581148	1.000000	0.71417	0.050000	0.19076	0.002000	0.02628	5.316000	0.65815	2.354000	0.79902	0.557000	0.71058	CTT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		C	NM_153264	-		130098458	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	SNP	0.984	T	T	130098458	C	T	130098458	3	4	102	1	0	0	0	0	1	0	0	0	3704	913	32	2	875	2	COL6A5	3	130098458	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3956055	130098458	67923972	170	6080											
COL6A6	131873	genome.wustl.edu	37	chr3	130289705	130289705	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgttgtgtttgtcattgaTagctctggcagtattgacta	11	6	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:130289705T>C	ENST00000358511.6	+	6	2476	c.2445T>C	c.(2443-2445)gaT>gaC	p.D815D	COL6A6_ENST00000453409.2_Silent_p.D815D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	815	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGTCATTGATAGCTCTGGCA	0.398																																																	0								ENSG00000206384						92	95	94					3																	130289705		1886	4132	6018	COL6A6	SO:0001819	synonymous_variant	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2445T>C	3.37:g.130289705T>C		Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D815	ENST00000358511.6	37	c.2445	CCDS46911.1	3																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.398	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	T	NM_001102608	-		130289705	1	no_errors	ENST00000358511	ensembl	human	known	74_37	silent	SNP	0.455	C	C	130289705	T	C	130289705	2	2	102	1	0	0	0	0	0	0	0	1	3705	1403	49	5		5	COL6A6	3	130289705	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	191247	130289705	67732725	171	6081											
BFSP2	8419	genome.wustl.edu	37	chr3	133119036	133119036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacggtcatcatcctccctgGagagccccccagcctccagg	9	19	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:133119036G>A	ENST00000302334.2	+	1	198	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	37	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E37K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATCCTCCCTGGAGAGCCCCCC	0.652																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000170819						50	58	55					3																	133119036		2203	4300	6503	BFSP2	SO:0001583	missense	0			-	HGNC	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.109G>A	3.37:g.133119036G>A	ENSP00000304987:p.Glu37Lys	Somatic	0	100	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	43	40.28	Q14D32|Q9HBW5	Missense_Mutation	SNP							pfam_IF,prints_Keratin_I	p.E37K	ENST00000302334.2	37	c.109	CCDS33859.1	3	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502435	0.64298	.	.	ENSG00000170819	ENST00000302334	D	0.82893	-1.66	5.63	5.63	0.86233	.	0.664983	0.14529	N	0.313979	T	0.77519	0.4142	L	0.58101	1.795	0.33564	D	0.597763	P	0.40050	0.7	B	0.33568	0.166	T	0.77752	-0.2470	10	0.05833	T	0.94	-2.2324	17.4612	0.87620	0.0:0.0:1.0:0.0	.	37	Q13515	BFSP2_HUMAN	K	37	ENSP00000304987:E37K	ENSP00000304987:E37K	E	+	1	0	BFSP2	134601726	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.080000	0.89510	2.668000	0.90789	0.563000	0.77884	GAG	-	NULL		0.652	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP2	protein_coding	OTTHUMT00000357031.1	G		-		133119036	1	no_errors	ENST00000302334	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133119036	G	A	133119036	3	1	102	1	0	0	0	0	1	0	0	0	1416	1175	41	2	111	2	BFSP2	3	133119036	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2829331	133119036	64903394	172	6082											
PRR23A	729627	genome.wustl.edu	37	chr3	138724603	138724603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgagccggctgcggagtCcatctggagctccggaaact	15	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:138724603C>T	ENST00000383163.2	-	1	507	c.508G>A	c.(508-510)Gac>Aac	p.D170N	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	170										endometrium(3)|kidney(1)|lung(7)	11						GCTGCGGAGTCCATCTGGAGC	0.657																																																	0								ENSG00000206260						23	28	27					3																	138724603		692	1591	2283	PRR23A	SO:0001583	missense	0			-	HGNC		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.508G>A	3.37:g.138724603C>T	ENSP00000372649:p.Asp170Asn	Somatic	0	83	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75		Missense_Mutation	SNP							pfam_UPF0572	p.D170N	ENST00000383163.2	37	c.508	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797050	0.31777	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.09	1.14	0.20703	.	2.514840	0.01946	N	0.042296	T	0.34135	0.0887	L	0.43923	1.385	0.09310	N	1	B	0.25850	0.136	B	0.20955	0.032	T	0.10042	-1.0647	9	0.31617	T	0.26	.	3.9326	0.09292	0.0:0.5159:0.33:0.154	.	170	A6NEV1	PR23A_HUMAN	N	170	.	ENSP00000372649:D170N	D	-	1	0	PRR23A	140207293	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.128000	0.15810	0.273000	0.22049	0.491000	0.48974	GAC	-	pfam_UPF0572		0.657	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	protein_coding	OTTHUMT00000361503.1	C	NM_001134659	-		138724603	-1	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	SNP	0.000	T	T	138724603	C	T	138724603	3	4	102	1	0	0	0	0	1	0	0	0	12599	855	30	2	296	2	PRR23A	3	138724603	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5605567	138724603	59297827	173	6083											
LEKR1	389170	genome.wustl.edu	37	chr3	156638446	156638446	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactgagtcatttgcaagatGagctaaaaattaaatataga	7	4	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:156638446G>A	ENST00000470811.1	+	0	460				LEKR1_ENST00000356539.4_Missense_Mutation_p.E116K|LEKR1_ENST00000489350.1_3'UTR|LEKR1_ENST00000491763.1_Missense_Mutation_p.E116K|LEKR1_ENST00000477399.1_Missense_Mutation_p.E116K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTGCAAGATGAGCTAAAAAT	0.254																																																	0								ENSG00000197980						35	32	33					3																	156638446		690	1564	2254	LEKR1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-876G>A	3.37:g.156638446G>A		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55		Missense_Mutation	SNP							superfamily_Ribosomal_L29	p.E116K	ENST00000470811.1	37	c.346		3	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445898	0.43429	.	.	ENSG00000197980;ENSG00000178110	ENST00000477399;ENST00000356539	T	0.50277	0.75	5.28	4.4	0.53042	.	.	.	.	.	T	0.32224	0.0822	N	0.14661	0.345	0.23969	N	0.996311	P	0.40107	0.703	B	0.42555	0.391	T	0.06625	-1.0816	9	0.24483	T	0.36	.	8.8538	0.35217	0.0986:0.0:0.9014:0.0	.	116	D3DNK7	.	K	116	ENSP00000348936:E116K	ENSP00000348936:E116K	E	+	1	0	RP11-6F2.7;LEKR1	158121140	0.994000	0.37717	0.908000	0.35775	0.026000	0.11368	3.446000	0.52928	2.480000	0.83734	0.655000	0.94253	GAG	-	NULL		0.254	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	protein_coding	OTTHUMT00000351625.3	G	NM_001004316	-		156638446	1	no_errors	ENST00000356539	ensembl	human	known	74_37	missense	SNP	0.949	A	A	156638446	G	A	156638446	1	1	102	0	1	0	0	0	0	0	0	0	8719	1291	45	2		2	LEKR1	3	156638446	5'UTR	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	17913843	156638446	41383984	174	6084											
WDR49	151790	genome.wustl.edu	37	chr3	167248902	167248902	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtaaatatatattttaCctgtcactgcagtgtttttt	5	5	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:167248902C>T	ENST00000308378.3	-	9	1468		c.e9+1		WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Splice_Site|WDR49_ENST00000476376.1_Splice_Site	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49											breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATATATTTTACCTGTCACTGC	0.358																																																	0								ENSG00000174776						44	47	46					3																	167248902		2203	4300	6503	WDR49	SO:0001630	splice_region_variant	0			-	HGNC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1162+1G>A	3.37:g.167248902C>T		Somatic	0	98	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	Q8N297	Splice_Site	SNP							-	e8+1	ENST00000308378.3	37	c.1162+1	CCDS3201.1	3	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150948	0.57151	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000472600;ENST00000453925;ENST00000493061	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0033	0.86386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR49	168731596	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.251000	0.58778	2.626000	0.88956	0.557000	0.71058	.	-	-		0.358	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	protein_coding	OTTHUMT00000350592.3	C	NM_178824	-	Intron	167248902	-1	no_errors	ENST00000308378	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	167248902	C	T	167248902	5	4	102	1	0	0	0	0	0	0	1	0	17309	521	18	2	958	2	WDR49	3	167248902	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	10610456	167248902	30773528	175	6085											
ARPM1	84517	genome.wustl.edu	37	chr3	169487279	169487279	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcattcccgagccgttgtcGatcaccaccggtagctggca	10	14	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:169487279G>A	ENST00000330368.2	-	1	404	c.30C>T	c.(28-30)atC>atT	p.I10I	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	10						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGCCGTTGTCGATCACCACCG	0.682																																																	0								ENSG00000184378						25	32	30					3																	169487279		2160	4249	6409	ACTRT3	SO:0001819	synonymous_variant	0			-	HGNC	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.30C>T	3.37:g.169487279G>A		Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	Q96IS0|Q96NJ0	Silent	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.I10	ENST00000330368.2	37	c.30	CCDS3206.1	3																																																																																			-	pfam_Actin-related,smart_Actin-related		0.682	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	protein_coding	OTTHUMT00000467797.1	G	NM_032487	-		169487279	-1	no_errors	ENST00000330368	ensembl	human	known	74_37	silent	SNP	1.000	A	A	169487279	G	A	169487279	2	1	102	1	0	0	0	0	0	0	0	1	976	1048	37	1		1	ARPM1	3	169487279	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2238377	169487279	28535151	176	6086											
LRRC31	79782	genome.wustl.edu	37	chr3	169558092	169558092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccagatgacccgtctgtAtgaccgatgctggaaaacag	12	10	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:169558092A>G	ENST00000316428.5	-	9	1394	c.1337T>C	c.(1336-1338)aTa>aCa	p.I446T	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.I390T	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	446										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACCCGTCTGTATGACCGATGC	0.473																																																	0								ENSG00000114248						70	64	66					3																	169558092		1972	4165	6137	LRRC31	SO:0001583	missense	0			-	HGNC	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1337T>C	3.37:g.169558092A>G	ENSP00000325978:p.Ile446Thr	Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I446T	ENST00000316428.5	37	c.1337	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	A	3.145	-0.175443	0.06421	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.55234	0.53;0.53	4.37	3.21	0.36854	.	0.513043	0.22973	N	0.053411	T	0.41003	0.1140	M	0.64997	1.995	0.09310	N	1	P;P	0.43352	0.804;0.704	B;B	0.35039	0.194;0.065	T	0.40478	-0.9561	10	0.46703	T	0.11	-3.4099	4.6123	0.12408	0.5918:0.158:0.2502:0.0	.	390;446	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	T	446;390	ENSP00000325978:I446T;ENSP00000264676:I390T	ENSP00000264676:I390T	I	-	2	0	LRRC31	171040786	0.001000	0.12720	0.004000	0.12327	0.149000	0.21700	0.601000	0.24119	0.649000	0.30751	0.454000	0.30748	ATA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.473	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	protein_coding	OTTHUMT00000378699.1	A	NM_024727	-		169558092	-1	no_errors	ENST00000316428	ensembl	human	known	74_37	missense	SNP	0.000	G	G	169558092	A	G	169558092	3	3	102	1	0	0	0	0	1	0	0	0	8988	449	16	5	325	5	LRRC31	3	169558092	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	70813	169558092	28464338	177	6087											
GHSR	2693	genome.wustl.edu	37	chr3	172163015	172163015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcagagtggagagctttCtctgggagaagggttcgaat	14	6	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:172163015C>T	ENST00000241256.2	-	2	1079	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	346					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGAGAGCTTTCTCTGGGAGAA	0.473																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0								ENSG00000121853						87	96	93					3																	172163015		2203	4300	6503	GHSR	SO:0001583	missense	0			-	HGNC	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.1037G>A	3.37:g.172163015C>T	ENSP00000241256:p.Arg346Lys	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn	p.R346K	ENST00000241256.2	37	c.1037	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780450	0.49891	.	.	ENSG00000121853	ENST00000241256	T	0.36157	1.27	5.91	5.03	0.67393	.	0.217035	0.47455	D	0.000223	T	0.14570	0.0352	N	0.05199	-0.095	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23084	-1.0198	10	0.10902	T	0.67	-16.7452	5.6827	0.17784	0.0:0.744:0.0:0.256	.	346	Q92847	GHSR_HUMAN	K	346	ENSP00000241256:R346K	ENSP00000241256:R346K	R	-	2	0	GHSR	173645709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	2.791000	0.96007	0.650000	0.86243	AGA	-	prints_GHS-R		0.473	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	protein_coding	OTTHUMT00000346728.1	C	NM_004122	-		172163015	-1	no_errors	ENST00000241256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172163015	C	T	172163015	3	4	102	1	0	0	0	0	1	0	0	0	6377	913	32	2	67	2	GHSR	3	172163015	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2604923	172163015	25859415	178	6088											
NCEH1	57552	genome.wustl.edu	37	chr3	172363419	172363419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattaattacttactcaatgGaaacaatgacagcattcaat	4	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:172363419G>A	ENST00000475381.1	-	3	664	c.431C>T	c.(430-432)tCc>tTc	p.S144F	NCEH1_ENST00000538775.1_Missense_Mutation_p.S184F|NCEH1_ENST00000543711.1_Missense_Mutation_p.S11F|NCEH1_ENST00000273512.3_Missense_Mutation_p.S176F			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	144					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTACTCAATGGAAACAATGAC	0.313																																																	0								ENSG00000144959						133	143	140					3																	172363419		2203	4299	6502	NCEH1	SO:0001583	missense	0			-	HGNC	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.431C>T	3.37:g.172363419G>A	ENSP00000418571:p.Ser144Phe	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP							pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S184F	ENST00000475381.1	37	c.551		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.509001|4.509001	0.85282|0.85282	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	.|T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Alpha/beta hydrolase fold-3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44008|0.44008	0.1273|0.1273	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.991;0.996	T|T	0.42189|0.42189	-0.9466|-0.9466	5|10	.|0.87932	.|D	.|0	-21.0375|-21.0375	18.6853|18.6853	0.91560|0.91560	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|184;144	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	S|F	175|144;184;176;11	.|ENSP00000418571:S144F;ENSP00000442464:S184F;ENSP00000273512:S176F;ENSP00000443227:S11F	.|ENSP00000273512:S176F	P|S	-|-	1|2	0|0	NCEH1|NCEH1	173846113|173846113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.091000|8.091000	0.89528|0.89528	2.479000|2.479000	0.83701|0.83701	0.491000|0.491000	0.48974|0.48974	CCA|TCC	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase		0.313	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	protein_coding	OTTHUMT00000346367.3	G	NM_020792	-		172363419	-1	no_errors	ENST00000538775	ensembl	human	known	74_37	missense	SNP	1.000	A	A	172363419	G	A	172363419	3	1	102	1	0	0	0	0	1	0	0	0	10217	1174	41	2	807	2	NCEH1	3	172363419	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	200404	172363419	25659011	179	6089											
MFN1	55669	genome.wustl.edu	37	chr3	179069740	179069740	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccactgaagatgatctggtAgaaatgcaaggatataaaga	11	5	1	5			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179069740A>T	ENST00000471841.1	+	3	291	c.165A>T	c.(163-165)gtA>gtT	p.V55V	MFN1_ENST00000280653.7_Silent_p.V55V|MFN1_ENST00000263969.5_Silent_p.V55V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	55					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)			ATGATCTGGTAGAAATGCAAG	0.348																																																	0								ENSG00000171109						141	138	139					3																	179069740		2203	4300	6503	MFN1	SO:0001819	synonymous_variant	0			-	HGNC	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.165A>T	3.37:g.179069740A>T		Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP							pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.V55	ENST00000471841.1	37	c.165	CCDS3228.1	3																																																																																			-	NULL		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	A	NM_017927	-		179069740	1	no_errors	ENST00000263969	ensembl	human	known	74_37	silent	SNP	0.003	T	T	179069740	A	T	179069740	2	4	102	1	0	0	0	0	0	0	0	1	9525	407	15	5		5	MFN1	3	179069740	Silent	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	6706321	179069740	18952690	180	6090											
MFN1	55669	genome.wustl.edu	37	chr3	179107852	179107852	+	Silent	SNP	G	G	T													gatattactcaaaaacagctGgaagaagaaattgctagatt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179107852G>T	ENST00000471841.1	+	17	2199	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	MFN1_ENST00000280653.7_Silent_p.L580L|MFN1_ENST00000263969.5_Silent_p.L691L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	691					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)			AAAAACAGCTGGAAGAAGAAA	0.313																																																	0								ENSG00000171109						60	64	62					3																	179107852		2203	4298	6501	MFN1	SO:0001819	synonymous_variant	0			-	HGNC	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.2073G>T	3.37:g.179107852G>T		Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP							pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L691	ENST00000471841.1	37	c.2073	CCDS3228.1	3																																																																																			-	pfam_Fzo/mitofusin_HR2		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927	-		179107852	1	no_errors	ENST00000263969	ensembl	human	known	74_37	silent	SNP	1.000	T	T	179107852	G	T	179107852	2	4	102	1	0	0	0	0	0	0	0	1	9525	1335	47	3		3	MFN1	3	179107852	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	38112	179107852	18914578	181	6091	74	3									
MFN1	55669	genome.wustl.edu	37	chr3	179107853	179107853	+	Missense_Mutation	SNP	G	G	A													atattactcaaaaacagctgGaagaagaaattgctagatta							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179107853G>A	ENST00000471841.1	+	17	2200	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	MFN1_ENST00000280653.7_Missense_Mutation_p.E581K|MFN1_ENST00000263969.5_Missense_Mutation_p.E692K	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	692					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)			AAAACAGCTGGAAGAAGAAAT	0.313																																																	0								ENSG00000171109						61	64	63					3																	179107853		2203	4298	6501	MFN1	SO:0001583	missense	0			-	HGNC	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.2074G>A	3.37:g.179107853G>A	ENSP00000420617:p.Glu692Lys	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP							pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.E692K	ENST00000471841.1	37	c.2074	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308198	0.81247	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.97	5.1	0.69264	Fzo/mitofusin HR2 domain (1);	0.130270	0.64402	N	0.000001	D	0.96543	0.8872	M	0.66506	2.035	0.28069	N	0.932641	B;P;P	0.48998	0.296;0.918;0.918	B;P;P	0.52386	0.184;0.697;0.627	D	0.92730	0.6199	10	0.31617	T	0.26	-23.3151	15.2002	0.73130	0.0673:0.0:0.9327:0.0	.	581;720;692	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	K	692;581;692;444	ENSP00000420617:E692K;ENSP00000280653:E581K;ENSP00000263969:E692K;ENSP00000419926:E444K	ENSP00000263969:E692K	E	+	1	0	MFN1	180590547	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.278000	0.78587	1.529000	0.49120	0.655000	0.94253	GAA	-	pfam_Fzo/mitofusin_HR2		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927	-		179107853	1	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179107853	G	A	179107853	3	1	102	1	0	0	0	0	1	0	0	0	9525	1175	41	2	2136	2	MFN1	3	179107853	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	179107853	18914577	182	6092	74	3									
MFN1	55669	genome.wustl.edu	37	chr3	179107859	179107859	+	Nonsense_Mutation	SNP	G	G	T													ctcaaaaacagctggaagaaGaaattgctagattacccaaa							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179107859G>T	ENST00000471841.1	+	17	2206	c.2080G>T	c.(2080-2082)Gaa>Taa	p.E694*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.E583*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.E694*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	694					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)			GCTGGAAGAAGAAATTGCTAG	0.313																																																	0								ENSG00000171109						60	63	62					3																	179107859		2203	4298	6501	MFN1	SO:0001587	stop_gained	0			-	HGNC	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.2080G>T	3.37:g.179107859G>T	ENSP00000420617:p.Glu694*	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP							pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.E694*	ENST00000471841.1	37	c.2080	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.719724	0.96839	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	.	.	.	5.97	5.97	0.96955	.	0.230179	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8679	15.175	0.72903	0.0:0.0:0.859:0.141	.	.	.	.	X	694;583;694;446	.	ENSP00000263969:E694X	E	+	1	0	MFN1	180590553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.152000	0.77419	2.828000	0.97474	0.655000	0.94253	GAA	-	pfam_Fzo/mitofusin_HR2		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927	-		179107859	1	no_errors	ENST00000263969	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	179107859	G	T	179107859	4	4	102	1	0	0	0	0	0	1	0	0	9525	943	33	3	2142	3	MFN1	3	179107859	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6	179107859	18914571	183	6093	74	3									
PEX5L	51555	genome.wustl.edu	37	chr3	179533684	179533684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctgaagaattgctgcttCcatgaacaggatggtgactg	12	8	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179533684C>T	ENST00000467460.1	-	10	1378	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PEX5L_ENST00000263962.8_Missense_Mutation_p.E348K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E242K|PEX5L_ENST00000465751.1_Missense_Mutation_p.E326K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.E242K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E291K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E158K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E307K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E315K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	350					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTGCTGCTTCCATGAACAGG	0.493																																																	0								ENSG00000114757						131	121	124					3																	179533684		2203	4300	6503	PEX5L	SO:0001583	missense	0			-	HGNC	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1048G>A	3.37:g.179533684C>T	ENSP00000419975:p.Glu350Lys	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E350K	ENST00000467460.1	37	c.1048	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.548016	0.96488	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	M	0.82056	2.57	0.80722	D	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	0.91635	0.998;0.998;0.999;0.993;0.986;0.984	D	0.92309	0.5856	10	0.87932	D	0	-23.5828	19.8585	0.96775	0.0:1.0:0.0:0.0	.	291;326;242;348;315;350	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	350;348;315;348;242;158;307;238;291;242;326	ENSP00000419975:E350K;ENSP00000263962:E348K;ENSP00000418440:E315K;ENSP00000376420:E242K;ENSP00000418665:E158K;ENSP00000420555:E307K;ENSP00000418054:E291K;ENSP00000417270:E242K;ENSP00000419348:E326K	ENSP00000263962:E348K	E	-	1	0	PEX5L	181016378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.760000	0.94817	0.655000	0.94253	GAA	-	pfscan_TPR-contain_dom		0.493	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	protein_coding	OTTHUMT00000348577.1	C	NM_016559	-		179533684	-1	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179533684	C	T	179533684	3	4	102	1	0	0	0	0	1	0	0	0	11751	864	30	2	856	2	PEX5L	3	179533684	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	425825	179533684	18488746	184	6094											
DNAJB11	51726	genome.wustl.edu	37	chr3	186299164	186299164	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttatgcacttcctaggtagTtagaaacaaacctgtggcaa	8	8	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:186299164T>A	ENST00000439351.1	+	6	1390	c.461T>A	c.(460-462)gTt>gAt	p.V154D	DNAJB11_ENST00000265028.3_Missense_Mutation_p.V154D			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	154					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TCCTAGGTAGTTAGAAACAAA	0.502																																																	0								ENSG00000090520						90	83	85					3																	186299164		2203	4300	6503	DNAJB11	SO:0001583	missense	0			-	HGNC	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.461T>A	3.37:g.186299164T>A	ENSP00000414398:p.Val154Asp	Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP							pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V154D	ENST00000439351.1	37	c.461	CCDS3277.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840152	0.71488	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67698	-0.28;-0.28	6.03	6.03	0.97812	HSP40/DnaJ peptide-binding (1);	0.056252	0.64402	D	0.000001	T	0.59500	0.2198	L	0.48218	1.51	0.80722	D	1	P	0.35944	0.529	B	0.37047	0.24	T	0.56347	-0.7994	10	0.12766	T	0.61	-19.1327	14.5176	0.67830	0.0:0.0:0.0:1.0	.	154	Q9UBS4	DJB11_HUMAN	D	154	ENSP00000414398:V154D;ENSP00000265028:V154D	ENSP00000265028:V154D	V	+	2	0	DNAJB11	187781858	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.007000	0.88571	2.302000	0.77476	0.533000	0.62120	GTT	-	superfamily_HSP40/DnaJ_pept-bd		0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB11	protein_coding	OTTHUMT00000344779.1	T		-		186299164	1	no_errors	ENST00000265028	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186299164	T	A	186299164	3	1	102	1	0	0	0	0	1	0	0	0	4618	1725	60	5	479	5	DNAJB11	3	186299164	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	6765480	186299164	11723266	185	6095											
APOD	347	genome.wustl.edu	37	chr3	195300824	195300824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgggatcttctcaatttCgtaccatcttccgagatact	7	10	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:195300824C>T	ENST00000343267.3	-	3	503	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	48					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCTCAATTTCGTACCATCTT	0.478																																																	0								ENSG00000189058						160	134	143					3																	195300824		2203	4300	6503	APOD	SO:0001583	missense	0			-	HGNC		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.142G>A	3.37:g.195300824C>T	ENSP00000345179:p.Glu48Lys	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.55	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac	p.E48K	ENST00000343267.3	37	c.142	CCDS33925.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.281644	0.95489	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.37584	1.19;1.19;1.19	5.91	5.91	0.95273	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83809	0.0240	10	0.87932	D	0	-24.7639	15.7984	0.78433	0.0:1.0:0.0:0.0	.	48;48	B4DGC3;P05090	.;APOD_HUMAN	K	48;76;48	ENSP00000345179:E48K;ENSP00000415235:E76K;ENSP00000393076:E48K	ENSP00000345179:E48K	E	-	1	0	APOD	196782113	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	6.915000	0.75770	2.802000	0.96397	0.655000	0.94253	GAA	-	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac		0.478	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOD	protein_coding	OTTHUMT00000342004.1	C	NM_001647	-		195300824	-1	no_errors	ENST00000343267	ensembl	human	known	74_37	missense	SNP	0.999	T	T	195300824	C	T	195300824	3	4	102	1	0	0	0	0	1	0	0	0	801	893	31	1	439	1	APOD	3	195300824	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9001660	195300824	2721606	186	6096											
ZNF595	152687	genome.wustl.edu	37	chr4	86773	86773	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaagaatgtggcaaagCctttacacggtccacaacac	9	10	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:86773C>T	ENST00000339368.6	+	0	1582							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGTGGCAAAGCCTTTACACGG	0.393																																																	0								ENSG00000197701						35	39	38					4																	86773		2141	4271	6412	ZNF595	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1579C>T	4.37:g.86773C>T		Somatic	0	28	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		RNA	SNP							-	NULL	ENST00000339368.6	37	NULL		4																																																																																			-	-		0.393	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	protein_coding	OTTHUMT00000357814.2	C	NM_182524	-		86773	1	no_errors	ENST00000339368	ensembl	human	known	74_37	rna	SNP	0.144	T	T	86773	C	T	86773	1	4	102	0	1	0	0	0	0	0	0	0	18032	739	26	2		2	ZNF595	4	86773	3'UTR	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		86773	191067503	187	6097											
ZNF721	170960	genome.wustl.edu	37	chr4	435581	435581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtctccacacgtgtagGgtttctctccagtatgaatt	8	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:435581G>A	ENST00000338977.5	-	2	2687	c.2639C>T	c.(2638-2640)cCc>cTc	p.P880L	ZNF721_ENST00000511833.2_Missense_Mutation_p.P892L|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	880					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACACGTGTAGGGTTTCTCTCC	0.388																																																	0								ENSG00000182903						63	67	66					4																	435581		2026	4211	6237	ZNF721	SO:0001583	missense	0			-	HGNC	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.2639C>T	4.37:g.435581G>A	ENSP00000340524:p.Pro880Leu	Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	Q69YG7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P892L	ENST00000338977.5	37	c.2675		4	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263374	0.23051	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.27557	1.66;1.66	0.539	-0.535	0.11879	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40815	0.1132	L	0.58354	1.805	0.34703	D	0.726993	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.64237	0.923;0.923;0.874	T	0.50717	-0.8795	9	0.62326	D	0.03	.	4.4468	0.11602	0.3168:0.0:0.6832:0.0	.	880;892;892	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	L	880;892	ENSP00000340524:P880L;ENSP00000428878:P892L	ENSP00000340524:P880L	P	-	2	0	ZNF721	425581	0.979000	0.34478	0.097000	0.21041	0.117000	0.20001	2.100000	0.41777	-0.323000	0.08602	0.205000	0.17691	CCC	-	pfscan_Znf_C2H2		0.388	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	protein_coding	OTTHUMT00000357939.1	G	NM_133474	-		435581	-1	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	SNP	0.872	A	A	435581	G	A	435581	3	1	102	1	0	0	0	0	1	0	0	0	18129	1232	43	2	100	2	ZNF721	4	435581	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	348808	435581	190718695	188	6098											
IDUA	3425	genome.wustl.edu	37	chr4	981704	981704	+	Missense_Mutation	SNP	G	G	A													ccgcggcatcaagcaggtccGgacccactggctgctggagc					rs121965029		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:981704G>A	ENST00000247933.4	+	2	354	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	SLC26A1_ENST00000361661.2_3'UTR|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_3'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	89			R -> Q (in MPS1S; in Japanese 21% of alleles). {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:8213840}.|R -> W (in MPS1S). {ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:7550242}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AAGCAGGTCCGGACCCACTGG	0.677																																																	0			GRCh37	CM950677	IDUA	M	rs121965029	ENSG00000127415						29	22	25					4																	981704		2188	4288	6476	IDUA	SO:0001583	missense	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.266G>A	4.37:g.981704G>A	ENSP00000247933:p.Arg89Gln	Somatic	0	29	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B3KWK6	Missense_Mutation	SNP							pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.R89Q	ENST00000247933.4	37	c.266	CCDS3343.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.241322	0.95272	.	.	ENSG00000127415	ENST00000247933	D	0.99282	-5.68	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000004	D	0.99306	0.9757	M	0.83953	2.67	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99849	1.1069	9	0.72032	D	0.01	.	12.5332	0.56128	0.0:0.0:1.0:0.0	.	89	P35475	IDUA_HUMAN	Q	89	ENSP00000247933:R89Q	ENSP00000247933:R89Q	R	+	2	0	IDUA	971704	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.530000	0.98051	1.509000	0.48786	0.462000	0.41574	CGG	-	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF		0.677	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	G	NM_000203	rs121965029		981704	1	no_errors	ENST00000247933	ensembl	human	known	74_37	missense	SNP	1.000	A	A	981704	G	A	981704	3	1	102	1	0	0	0	0	1	0	0	0	7506	1116	39	1	272	1	IDUA	4	981704	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	546123	981704	190172572	189	6099	75	2									
IDUA	3425	genome.wustl.edu	37	chr4	981705	981705	+	Silent	SNP	G	G	A													cgcggcatcaagcaggtccgGacccactggctgctggagct							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:981705G>A	ENST00000247933.4	+	2	355	c.267G>A	c.(265-267)cgG>cgA	p.R89R	SLC26A1_ENST00000361661.2_3'UTR|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_3'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	89			R -> Q (in MPS1S; in Japanese 21% of alleles). {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:8213840}.|R -> W (in MPS1S). {ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:7550242}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCAGGTCCGGACCCACTGGC	0.677																																																	0								ENSG00000127415						28	22	24					4																	981705		2188	4288	6476	IDUA	SO:0001819	synonymous_variant	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.267G>A	4.37:g.981705G>A		Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B3KWK6	Silent	SNP							pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.R89	ENST00000247933.4	37	c.267	CCDS3343.1	4																																																																																			-	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF		0.677	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	G	NM_000203	-		981705	1	no_errors	ENST00000247933	ensembl	human	known	74_37	silent	SNP	1.000	A	A	981705	G	A	981705	2	1	102	1	0	0	0	0	0	0	0	1	7506	1161	41	2		2	IDUA	4	981705	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	981705	190172571	190	6100	75	2									
HTT	3064	genome.wustl.edu	37	chr4	3188392	3188392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagattttggccccttcctcCctccgtccggtagacatgct	9	15	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:3188392C>T	ENST00000355072.5	+	38	5080	c.4935C>T	c.(4933-4935)tcC>tcT	p.S1645S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1645					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCTTCCTCCCTCCGTCCGG	0.468																																																	0								ENSG00000197386						235	218	223					4																	3188392		1938	4137	6075	HTT	SO:0001819	synonymous_variant	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4935C>T	4.37:g.3188392C>T		Somatic	0	115	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	Q9UQB7	Silent	SNP							pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.S1645	ENST00000355072.5	37	c.4935	CCDS43206.1	4																																																																																			-	NULL		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	C	NM_002111	-		3188392	1	no_errors	ENST00000355072	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3188392	C	T	3188392	2	4	102	1	0	0	0	0	0	0	0	1	7459	610	22	2		2	HTT	4	3188392	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2206687	3188392	187965884	191	6101											
QDPR	5860	genome.wustl.edu	37	chr4	17503362	17503362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtcccatccagggcaGcctttgcgccagccaaggtc	12	15	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:17503362G>A	ENST00000281243.5	-	4	595	c.416C>T	c.(415-417)gCt>gTt	p.A139V	QDPR_ENST00000428702.2_Missense_Mutation_p.A108V|QDPR_ENST00000513615.1_Missense_Mutation_p.A139V|QDPR_ENST00000508623.1_Missense_Mutation_p.A139V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	139					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATCCAGGGCAGCCTTTGCGCC	0.557																																																	0								ENSG00000151552						82	71	75					4																	17503362		2203	4300	6503	QDPR	SO:0001583	missense	0			-	HGNC	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.416C>T	4.37:g.17503362G>A	ENSP00000281243:p.Ala139Val	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR	p.A139V	ENST00000281243.5	37	c.416	CCDS3421.1	4	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899687	0.91962	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	D;D;D;D	0.95482	-3.72;-2.62;-3.72;-3.72	5.65	5.65	0.86999	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.096930	0.64402	D	0.000001	D	0.95639	0.8582	M	0.79011	2.435	0.80722	D	1	P;D	0.56746	0.906;0.977	P;B	0.44946	0.465;0.323	D	0.95290	0.8394	10	0.44086	T	0.13	-15.808	18.5072	0.90901	0.0:0.0:1.0:0.0	.	108;139	B3KW71;P09417	.;DHPR_HUMAN	V	139;139;108;139	ENSP00000422759:A139V;ENSP00000281243:A139V;ENSP00000390944:A108V;ENSP00000426377:A139V	ENSP00000281243:A139V	A	-	2	0	QDPR	17112460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.518000	0.90559	2.662000	0.90505	0.563000	0.77884	GCT	-	pfam_DH_sc/Rdtase_SDR		0.557	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	protein_coding	OTTHUMT00000250372.1	G	NM_000320	-		17503362	-1	no_errors	ENST00000281243	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17503362	G	A	17503362	3	1	102	1	0	0	0	0	1	0	0	0	12880	971	34	2	334	2	QDPR	4	17503362	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	14314970	17503362	173650914	192	6102											
GPR125	166647	genome.wustl.edu	37	chr4	22404412	22404412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggtgtatagttcagatCccgtcaaatcctgagggcaa	11	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:22404412C>T	ENST00000334304.5	-	15	2512	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	748	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)				TAGTTCAGATCCCGTCAAATC	0.428																																																	0								ENSG00000152990						83	86	85					4																	22404412		2203	4300	6503	GPR125	SO:0001583	missense	0			-	HGNC	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.2243G>A	4.37:g.22404412C>T	ENSP00000334952:p.Gly748Glu	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G748E	ENST00000334304.5	37	c.2243	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408486	0.25378	.	.	ENSG00000152990	ENST00000334304	T	0.55052	0.54	4.83	4.83	0.62350	GPS domain (2);	0.237771	0.43260	D	0.000597	T	0.44623	0.1302	M	0.61703	1.905	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.37596	-0.9699	10	0.02654	T	1	-19.2348	12.7432	0.57266	0.0:0.9171:0.0:0.0829	.	605;748	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	E	748	ENSP00000334952:G748E	ENSP00000334952:G748E	G	-	2	0	GPR125	22013510	0.912000	0.30974	0.067000	0.19924	0.941000	0.58515	2.592000	0.46171	2.399000	0.81585	0.591000	0.81541	GGA	-	smart_GPS_dom,pfscan_GPS_dom		0.428	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	C		-		22404412	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22404412	C	T	22404412	3	4	102	1	0	0	0	0	1	0	0	0	6641	855	30	2	1742	2	GPR125	4	22404412	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4901050	22404412	168749864	193	6103											
PGM2	55276	genome.wustl.edu	37	chr4	37831663	37831663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgaaaatgttttggggcCcgaatggagtttgggacagc	14	7	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:37831663C>T	ENST00000381967.4	+	2	259	c.159C>T	c.(157-159)gcC>gcT	p.A53A	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	53					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTTGGGGCCCGAATGGAGT	0.428																																																	0								ENSG00000169299						77	80	79					4																	37831663		2203	4300	6503	PGM2	SO:0001819	synonymous_variant	0			-	HGNC	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.159C>T	4.37:g.37831663C>T		Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP							pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A53	ENST00000381967.4	37	c.159	CCDS3443.1	4																																																																																			-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.428	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	protein_coding	OTTHUMT00000215079.2	C	NM_018290	-		37831663	1	no_errors	ENST00000381967	ensembl	human	known	74_37	silent	SNP	1.000	T	T	37831663	C	T	37831663	2	4	102	1	0	0	0	0	0	0	0	1	11800	610	22	2		2	PGM2	4	37831663	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	15427251	37831663	153322613	194	6104											
KLB	152831	genome.wustl.edu	37	chr4	39448830	39448830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcaaccacttcaccacTaggttcgtgatgcacgagca	9	14	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:39448830T>C	ENST00000257408.4	+	4	2581	c.2484T>C	c.(2482-2484)acT>acC	p.T828T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	828	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACTTCACCACTAGGTTCGTGA	0.667																																																	0								ENSG00000134962						48	43	44					4																	39448830		2203	4300	6503	KLB	SO:0001819	synonymous_variant	0			-	HGNC	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2484T>C	4.37:g.39448830T>C		Somatic	0	108	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	Q2M3K8	Silent	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T828	ENST00000257408.4	37	c.2484	CCDS3451.1	4																																																																																			-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.667	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	protein_coding	OTTHUMT00000250429.1	T	NM_175737	-		39448830	1	no_errors	ENST00000257408	ensembl	human	known	74_37	silent	SNP	0.434	C	C	39448830	T	C	39448830	2	2	102	1	0	0	0	0	0	0	0	1	8334	1509	53	5		5	KLB	4	39448830	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1617167	39448830	151705446	195	6105											
GABRG1	2565	genome.wustl.edu	37	chr4	46086053	46086053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttacataaacatcagtttCaattactgtgggcctcactg	7	9	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:46086053C>T	ENST00000295452.4	-	3	438	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	91					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Ketazolam(DB01587)|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)	ACATCAGTTTCAATTACTGTG	0.289																																																	0								ENSG00000163285						42	41	41					4																	46086053		2200	4294	6494	GABRG1	SO:0001583	missense	0			-	HGNC	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.271G>A	4.37:g.46086053C>T	ENSP00000295452:p.Glu91Lys	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	Q5H9T8	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E91K	ENST00000295452.4	37	c.271	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238818	0.22711	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.77877	-1.13	4.96	4.96	0.65561	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	N	0.16708	0.43	0.53005	D	0.999967	P	0.45768	0.866	P	0.45660	0.489	T	0.63501	-0.6623	10	0.02654	T	1	.	11.422	0.49987	0.0:0.818:0.182:0.0	.	91	Q8N1C3	GBRG1_HUMAN	K	91	ENSP00000295452:E91K	ENSP00000295452:E91K	E	-	1	0	GABRG1	45780810	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.744000	0.38268	2.576000	0.86940	0.655000	0.94253	GAA	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	protein_coding	OTTHUMT00000250470.1	C	NM_173536	-		46086053	-1	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46086053	C	T	46086053	3	4	102	1	0	0	0	0	1	0	0	0	6173	835	29	2	1154	2	GABRG1	4	46086053	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6637223	46086053	145068223	196	6106											
NIPAL1	152519	genome.wustl.edu	37	chr4	48038018	48038018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattggcatcttccttctAcatgcttttaaaaatactga	4	9	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:48038018A>G	ENST00000295461.5	+	6	1128	c.1062A>G	c.(1060-1062)ctA>ctG	p.L354L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	354						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCTTCCTTCTACATGCTTTTA	0.398																																																	0								ENSG00000163293						128	116	120					4																	48038018		2203	4300	6503	NIPAL1	SO:0001819	synonymous_variant	0			-	HGNC	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1062A>G	4.37:g.48038018A>G		Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B3KTB0|Q68DA9	Silent	SNP							pfam_Mg_trans_NIPA,pfam_DMT	p.L354	ENST00000295461.5	37	c.1062	CCDS3479.1	4																																																																																			-	pfam_Mg_trans_NIPA		0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	protein_coding	OTTHUMT00000250491.4	A	NM_207330	-		48038018	1	no_errors	ENST00000295461	ensembl	human	known	74_37	silent	SNP	0.963	G	G	48038018	A	G	48038018	2	3	102	1	0	0	0	0	0	0	0	1	10426	378	14	5		5	NIPAL1	4	48038018	Silent	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	1951965	48038018	143116258	197	6107											
UGT2B15	7366	genome.wustl.edu	37	chr4	69519760	69519760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtaatactcacacaggGtcattaatgactgacttcaa	6	9	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:69519760G>A	ENST00000338206.5	-	5	1317	c.1308C>T	c.(1306-1308)gaC>gaT	p.D436D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	436					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CTCACACAGGGTCATTAATGA	0.378																																																	0								ENSG00000196620						183	167	172					4																	69519760		2203	4296	6499	UGT2B15	SO:0001819	synonymous_variant	0			-	HGNC	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1308C>T	4.37:g.69519760G>A		Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	19.67	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D436	ENST00000338206.5	37	c.1308	CCDS3524.1	4																																																																																			-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.378	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	protein_coding	OTTHUMT00000365172.1	G	NM_001076	-		69519760	-1	no_errors	ENST00000338206	ensembl	human	known	74_37	silent	SNP	0.523	A	A	69519760	G	A	69519760	2	1	102	1	0	0	0	0	0	0	0	1	16965	1252	44	2		2	UGT2B15	4	69519760	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	21481742	69519760	121634516	198	6108											
UGT2B11	10720	genome.wustl.edu	37	chr4	70079817	70079817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatattttttaccctctcCatgaaagtcatttgatcact	3	10	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:70079817C>T	ENST00000446444.1	-	1	632	c.624G>A	c.(622-624)atG>atA	p.M208I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	208					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACCCTCTCCATGAAAGTCA	0.363																																																	0								ENSG00000213759						59	58	58					4																	70079817		2202	4295	6497	UGT2B11	SO:0001583	missense	0			-	HGNC	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.624G>A	4.37:g.70079817C>T	ENSP00000387683:p.Met208Ile	Somatic	0	185	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	68	20.69	Q3KNV9	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M208I	ENST00000446444.1	37	c.624	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	1.772	-0.484182	0.04383	.	.	ENSG00000213759	ENST00000446444	T	0.60920	0.15	1.96	1.01	0.19927	.	1.026220	0.07796	U	0.955734	T	0.40372	0.1114	L	0.28776	0.89	0.18873	N	0.999981	B	0.10296	0.003	B	0.12837	0.008	T	0.24440	-1.0160	10	0.18710	T	0.47	.	4.6776	0.12719	0.0:0.6386:0.0:0.3614	.	208	O75310	UDB11_HUMAN	I	208	ENSP00000387683:M208I	ENSP00000387683:M208I	M	-	3	0	UGT2B11	70114406	0.000000	0.05858	0.641000	0.29422	0.532000	0.34746	-0.511000	0.06321	0.115000	0.18071	0.184000	0.17185	ATG	-	pfam_UDP_glucos_trans		0.363	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	protein_coding	OTTHUMT00000251551.2	C	NM_001073	-		70079817	-1	no_errors	ENST00000446444	ensembl	human	known	74_37	missense	SNP	0.762	T	T	70079817	C	T	70079817	3	4	102	1	0	0	0	0	1	0	0	0	16964	594	21	2	989	2	UGT2B11	4	70079817	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	560057	70079817	121074459	199	6109											
UTP3	57050	genome.wustl.edu	37	chr4	71555131	71555131	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaggatgagctggagcCattgttagagttggtggaac	16	4	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:71555131C>G	ENST00000254803.2	+	1	936	c.737C>G	c.(736-738)cCa>cGa	p.P246R		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGCTGGAGCCATTGTTAGAG	0.438																																																	0								ENSG00000132467						85	84	84					4																	71555131		2203	4300	6503	UTP3	SO:0001583	missense	0			-	HGNC	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.737C>G	4.37:g.71555131C>G	ENSP00000254803:p.Pro246Arg	Somatic	0	27	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q6FI82	Missense_Mutation	SNP							pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.P246R	ENST00000254803.2	37	c.737	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573940	0.65765	.	.	ENSG00000132467	ENST00000254803	T	0.38240	1.15	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.69070	0.3070	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75382	-0.3337	10	0.62326	D	0.03	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	R	246	ENSP00000254803:P246R	ENSP00000254803:P246R	P	+	2	0	UTP3	71773995	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	4.668000	0.61568	2.542000	0.85734	0.603000	0.83216	CCA	-	pfam_Sas10/Utp3/C1D		0.438	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	protein_coding	OTTHUMT00000252163.2	C	NM_020368	-		71555131	1	no_errors	ENST00000254803	ensembl	human	known	74_37	missense	SNP	0.993	G	G	71555131	C	G	71555131	3	3	102	1	0	0	0	0	1	0	0	0	17108	594	21	4	739	4	UTP3	4	71555131	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1475314	71555131	119599145	200	6110											
NUP54	53371	genome.wustl.edu	37	chr4	77038823	77038823	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgcaacacttacctgcttGatttctcgtaacagatctgc	6	12	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:77038823G>A	ENST00000264883.3	-	11	1529	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	NUP54_ENST00000342467.6_Silent_p.I247I|NUP54_ENST00000458189.2_Silent_p.I283I|NUP54_ENST00000514987.1_Silent_p.I415I	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	463					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)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTACCTGCTTGATTTCTCGTA	0.378																																																	0								ENSG00000138750						112	103	106					4																	77038823		2203	4300	6503	NUP54	SO:0001819	synonymous_variant	0			-	HGNC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1389C>T	4.37:g.77038823G>A		Somatic	0	35	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP							NULL	p.I463	ENST00000264883.3	37	c.1389	CCDS3576.1	4																																																																																			-	NULL		0.378	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	protein_coding	OTTHUMT00000252402.3	G		-		77038823	-1	no_errors	ENST00000264883	ensembl	human	known	74_37	silent	SNP	1.000	A	A	77038823	G	A	77038823	2	1	102	1	0	0	0	0	0	0	0	1	10769	1280	45	2		2	NUP54	4	77038823	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5483692	77038823	114115453	201	6111											
NUP54	53371	genome.wustl.edu	37	chr4	77065434	77065434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacctttgttctgagtacCaccaaagagtcctttgaatg	7	9	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:77065434C>T	ENST00000264883.3	-	3	303	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	55	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				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)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTCTGAGTACCACCAAAGAGT	0.373																																																	0								ENSG00000138750						198	206	204					4																	77065434		2203	4300	6503	NUP54	SO:0001583	missense	0			-	HGNC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.163G>A	4.37:g.77065434C>T	ENSP00000264883:p.Gly55Ser	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP							NULL	p.G55S	ENST00000264883.3	37	c.163	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921837	0.17982	.	.	ENSG00000138750	ENST00000264883;ENST00000514901	.	.	.	5.65	3.01	0.34805	.	0.262850	0.43747	N	0.000521	T	0.21590	0.0520	N	0.01668	-0.77	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05616	-1.0874	9	0.10636	T	0.68	-4.5726	10.9004	0.47049	0.0:0.7964:0.0:0.2036	.	55	Q7Z3B4	NUP54_HUMAN	S	55;109	.	ENSP00000264883:G55S	G	-	1	0	NUP54	77284458	1.000000	0.71417	0.883000	0.34634	0.890000	0.51754	1.996000	0.40776	0.333000	0.23563	0.655000	0.94253	GGT	-	NULL		0.373	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	protein_coding	OTTHUMT00000252402.3	C		-		77065434	-1	no_errors	ENST00000264883	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77065434	C	T	77065434	3	4	102	1	0	0	0	0	1	0	0	0	10769	594	21	2	1400	2	NUP54	4	77065434	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	26611	77065434	114088842	202	6112											
CDS1	1040	genome.wustl.edu	37	chr4	85525423	85525423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atattgatgacagatatggaGatttggattccagaacagat	10	4	0	6			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:85525423G>A	ENST00000295887.5	+	2	568	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CAGATATGGAGATTTGGATTC	0.348																																																	0								ENSG00000163624						88	90	89					4																	85525423		2203	4300	6503	CDS1	SO:0001583	missense	0			-	HGNC	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.145G>A	4.37:g.85525423G>A	ENSP00000295887:p.Asp49Asn	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP							pfam_PC_trans,pirsf_PC_Trfase_euk	p.D49N	ENST00000295887.5	37	c.145	CCDS3608.1	4	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683246	0.68157	.	.	ENSG00000163624	ENST00000295887	T	0.47177	0.85	5.68	5.68	0.88126	.	0.051656	0.85682	D	0.000000	T	0.36166	0.0957	N	0.24115	0.695	0.53688	D	0.999972	B	0.23377	0.084	B	0.25759	0.063	T	0.11717	-1.0576	10	0.19590	T	0.45	-17.4226	16.7091	0.85380	0.0:0.0:1.0:0.0	.	49	Q92903	CDS1_HUMAN	N	49	ENSP00000295887:D49N	ENSP00000295887:D49N	D	+	1	0	CDS1	85744447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.390000	0.73204	2.693000	0.91896	0.655000	0.94253	GAT	-	pirsf_PC_Trfase_euk		0.348	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS1	protein_coding	OTTHUMT00000252817.2	G		-		85525423	1	no_errors	ENST00000295887	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85525423	G	A	85525423	3	1	102	1	0	0	0	0	1	0	0	0	3179	942	33	2	151	2	CDS1	4	85525423	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8459989	85525423	105628853	203	6113											
MAPK10	5602	genome.wustl.edu	37	chr4	87023134	87023134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgctcatggtctaattcCatctgaatcacttgacataa	5	10	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:87023134C>T	ENST00000359221.3	-	7	1003	c.477G>A	c.(475-477)atG>atA	p.M159I	MAPK10_ENST00000395166.1_Missense_Mutation_p.M121I|MAPK10_ENST00000395157.3_Missense_Mutation_p.M14I|MAPK10_ENST00000361569.2_Missense_Mutation_p.M159I|MAPK10_ENST00000395161.2_Missense_Mutation_p.M159I|MAPK10_ENST00000395160.3_Missense_Mutation_p.M14I|MAPK10_ENST00000449047.2_Missense_Mutation_p.M14I|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.M121I			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GGTCTAATTCCATCTGAATCA	0.408																																																	0								ENSG00000109339						277	256	263					4																	87023134		2203	4300	6503	MAPK10	SO:0001583	missense	0			-	HGNC	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.477G>A	4.37:g.87023134C>T	ENSP00000352157:p.Met159Ile	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.M159I	ENST00000359221.3	37	c.477	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124650|4.124650	0.77436|0.77436	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|D;D;D;D;D;D;D;D	.|0.82619	.|-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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|T	0.74711|0.74711	0.3752|0.3752	N|N	0.04148|0.04148	-0.265|-0.265	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.20052	.|0.007;0.041;0.015;0.015;0.017	.|B;B;B;B;B	.|0.34452	.|0.03;0.183;0.066;0.066;0.156	T|T	0.70876|0.70876	-0.4753|-0.4753	6|10	0.87932|0.59425	D|D	0|0.04	-24.7942|-24.7942	20.3771|20.3771	0.98923|0.98923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|45;14;121;159;159	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	R|I	72|121;159;14;159;121;14;14;159	.|ENSP00000378598:M121I;ENSP00000352157:M159I;ENSP00000378586:M14I;ENSP00000355297:M159I;ENSP00000378595:M121I;ENSP00000378589:M14I;ENSP00000414469:M14I;ENSP00000378590:M159I	ENSP00000309857:G140R|ENSP00000352157:M159I	G|M	-|-	1|3	0|0	MAPK10|MAPK10	87242158|87242158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.730000|7.730000	0.84881|0.84881	2.824000|2.824000	0.97209|0.97209	0.650000|0.650000	0.86243|0.86243	GGA|ATG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom		0.408	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	protein_coding	OTTHUMT00000361363.2	C		-		87023134	-1	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	SNP	1.000	T	T	87023134	C	T	87023134	3	4	102	1	0	0	0	0	1	0	0	0	9274	594	21	2	954	2	MAPK10	4	87023134	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1497711	87023134	104131142	204	6114											
PKD2	5311	genome.wustl.edu	37	chr4	88957450	88957450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcctagacacccccgtgtCcaaaacggagaaaactaact	6	14	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:88957450C>T	ENST00000237596.2	+	3	854	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACCCCCGTGTCCAAAACGGAG	0.423																																																	0								ENSG00000118762						129	121	124					4																	88957450		2203	4300	6503	PKD2	SO:0001583	missense	0			-	HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.788C>T	4.37:g.88957450C>T	ENSP00000237596:p.Ser263Phe	Somatic	0	21	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP							pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.S263F	ENST00000237596.2	37	c.788	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745852	0.49151	.	.	ENSG00000118762	ENST00000237596	T	0.67345	-0.26	5.56	4.73	0.59995	.	0.106561	0.64402	D	0.000002	T	0.79269	0.4417	M	0.75447	2.3	0.80722	D	1	D	0.69078	0.997	P	0.62491	0.903	T	0.81771	-0.0780	10	0.62326	D	0.03	-15.6124	14.598	0.68419	0.0:0.93:0.0:0.07	.	263	Q13563	PKD2_HUMAN	F	263	ENSP00000237596:S263F	ENSP00000237596:S263F	S	+	2	0	PKD2	89176474	1.000000	0.71417	0.331000	0.25455	0.143000	0.21401	7.729000	0.84864	1.353000	0.45828	-0.150000	0.13652	TCC	-	NULL		0.423	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	C	NM_000297	-		88957450	1	no_errors	ENST00000237596	ensembl	human	known	74_37	missense	SNP	0.999	T	T	88957450	C	T	88957450	3	4	102	1	0	0	0	0	1	0	0	0	11968	855	30	2	798	2	PKD2	4	88957450	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1934316	88957450	102196826	205	6115											
ABCG2	9429	genome.wustl.edu	37	chr4	89034698	89034698	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttggaaggctctatgatCtctgtggctttgcaatcagt	11	8	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:89034698C>T	ENST00000237612.3	-	9	1496	c.951G>A	c.(949-951)gaG>gaA	p.E317E	ABCG2_ENST00000515655.1_Silent_p.E317E	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	317					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTCTATGATCTCTGTGGCTT	0.383																																																	0								ENSG00000118777						83	83	83					4																	89034698		2203	4300	6503	ABCG2	SO:0001819	synonymous_variant	0			-	HGNC	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.951G>A	4.37:g.89034698C>T		Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E317	ENST00000237612.3	37	c.951	CCDS3628.1	4																																																																																			-	NULL		0.383	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	protein_coding	OTTHUMT00000253051.1	C	NM_004827	-		89034698	-1	no_errors	ENST00000237612	ensembl	human	known	74_37	silent	SNP	0.000	T	T	89034698	C	T	89034698	2	4	102	1	0	0	0	0	0	0	0	1	69	912	32	2		2	ABCG2	4	89034698	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	77248	89034698	102119578	206	6116											
FAM190A	401145	genome.wustl.edu	37	chr4	92007137	92007137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactagagacagtacaaggaGggagagaggtaagaatgttt	15	3	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:92007137G>A	ENST00000509176.1	+	10	2497	c.2209G>A	c.(2209-2211)Ggg>Agg	p.G737R	CCSER1_ENST00000333691.8_Missense_Mutation_p.G737R	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	737								p.G739R(1)|p.G737R(1)									AGTACAAGGAGGGAGAGAGGT	0.353																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000184305						77	67	70					4																	92007137		692	1591	2283	CCSER1	SO:0001583	missense	0			-	HGNC		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2209G>A	4.37:g.92007137G>A	ENSP00000425040:p.Gly737Arg	Somatic	0	93	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	Q4W5M0|Q86V57	Missense_Mutation	SNP							NULL	p.G737R	ENST00000509176.1	37	c.2209	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051672	0.75960	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.38887	1.11;1.11	5.1	5.1	0.69264	.	.	.	.	.	T	0.48114	0.1482	N	0.14661	0.345	0.31694	N	0.641575	D	0.89917	1.0	D	0.75484	0.986	T	0.55289	-0.8164	9	0.72032	D	0.01	.	14.7446	0.69480	0.0:0.0:1.0:0.0	.	737	Q9C0I3	F190A_HUMAN	R	737	ENSP00000425040:G737R;ENSP00000329482:G737R	ENSP00000329482:G737R	G	+	1	0	FAM190A	92226160	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.145000	0.58065	2.762000	0.94881	0.591000	0.81541	GGG	-	NULL		0.353	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	protein_coding	OTTHUMT00000363109.3	G	NM_001145065	-		92007137	1	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92007137	G	A	92007137	3	1	102	1	0	0	0	0	1	0	0	0	5523	1000	35	2	2271	2	FAM190A	4	92007137	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2972439	92007137	99147139	207	6117											
HPGDS	27306	genome.wustl.edu	37	chr4	95229814	95229814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctttttctctgcccaagGaaaacatgacatgaaatcat	6	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:95229814G>A	ENST00000295256.5	-	4	397	c.307C>T	c.(307-309)Cct>Tct	p.P103S	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	103	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCTGCCCAAGGAAAACATGAC	0.398																																					Colon(86;1802 1843 17863 46794)												0								ENSG00000163106						168	155	159					4																	95229814		2203	4300	6503	HPGDS	SO:0001583	missense	0			-	HGNC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.307C>T	4.37:g.95229814G>A	ENSP00000295256:p.Pro103Ser	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q6FHT9	Missense_Mutation	SNP							pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.P103S	ENST00000295256.5	37	c.307	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527004	0.64860	.	.	ENSG00000163106	ENST00000295256	T	0.02236	4.38	5.43	5.43	0.79202	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.669475	0.14236	N	0.332412	T	0.09598	0.0236	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.44283	-0.9338	10	0.22706	T	0.39	.	16.7289	0.85430	0.0:0.0:1.0:0.0	.	103	O60760	HPGDS_HUMAN	S	103	ENSP00000295256:P103S	ENSP00000295256:P103S	P	-	1	0	HPGDS	95448837	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	6.233000	0.72320	2.538000	0.85594	0.561000	0.74099	CCT	-	superfamily_Glutathione-S-Trfase_C-like		0.398	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	protein_coding	OTTHUMT00000253587.1	G	NM_014485	-		95229814	-1	no_errors	ENST00000295256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95229814	G	A	95229814	3	1	102	1	0	0	0	0	1	0	0	0	7337	1174	41	2	304	2	HPGDS	4	95229814	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3222677	95229814	95924462	208	6118											
RAP1GDS1	5910	genome.wustl.edu	37	chr4	99300242	99300242	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttaaggtcactgtgcagtAtaacagatcccgccaatgag	9	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:99300242A>T	ENST00000408927.3	+	5	549	c.436A>T	c.(436-438)Ata>Tta	p.I146L	RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I147L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I147L	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	146					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)		ACTGTGCAGTATAACAGATCC	0.393			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0								ENSG00000138698						140	141	140					4																	99300242		1918	4126	6044	RAP1GDS1	SO:0001583	missense	0			-	HGNC		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.436A>T	4.37:g.99300242A>T	ENSP00000386153:p.Ile146Leu	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I147L	ENST00000408927.3	37	c.439	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634929	0.29068	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T	0.61510	1.69;1.69;0.1;1.69	5.81	0.827	0.18835	Armadillo-like helical (1);Armadillo-type fold (1);	1.053850	0.07345	N	0.881419	T	0.32585	0.0834	N	0.08118	0	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	0.18023	-1.0350	10	0.21540	T	0.41	3.0E-4	4.8285	0.13428	0.5934:0.0:0.1891:0.2175	.	146;147;147;146	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	L	105;146;147;105;147	ENSP00000386153:I146L;ENSP00000407157:I147L;ENSP00000421599:I105L;ENSP00000340454:I147L	ENSP00000340454:I147L	I	+	1	0	RAP1GDS1	99519265	0.998000	0.40836	0.883000	0.34634	0.955000	0.61496	1.890000	0.39728	-0.087000	0.12528	-1.426000	0.01102	ATA	-	superfamily_ARM-type_fold		0.393	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	protein_coding	OTTHUMT00000363273.2	A	NM_001100426	-		99300242	1	no_errors	ENST00000339360	ensembl	human	known	74_37	missense	SNP	0.130	T	T	99300242	A	T	99300242	3	4	102	1	0	0	0	0	1	0	0	0	13047	449	16	5	457	5	RAP1GDS1	4	99300242	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	4070428	99300242	91854034	209	6119											
DKK2	27123	genome.wustl.edu	37	chr4	107845759	107845759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgccatcccaagtcatGgtttgagtaatgaccgtggt	10	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:107845759G>A	ENST00000285311.3	-	3	1177	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	DKK2_ENST00000513208.1_Missense_Mutation_p.H58Y|DKK2_ENST00000510463.1_Missense_Mutation_p.H112Y	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	158					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCAAGTCATGGTTTGAGTAA	0.433																																																	0								ENSG00000155011						227	203	211					4																	107845759		2203	4300	6503	DKK2	SO:0001583	missense	0			-	HGNC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.472C>T	4.37:g.107845759G>A	ENSP00000285311:p.His158Tyr	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP							pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.H158Y	ENST00000285311.3	37	c.472	CCDS3675.1	4	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747781	0.49257	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.44482	0.92;0.94;0.93	5.66	5.66	0.87406	.	0.116019	0.52532	D	0.000065	T	0.20740	0.0499	N	0.08118	0	0.31282	N	0.690463	B;B	0.31485	0.052;0.325	B;B	0.24394	0.053;0.042	T	0.15263	-1.0443	10	0.16420	T	0.52	-0.0478	12.7725	0.57429	0.0:0.0:0.7267:0.2733	.	158;158	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Y	158;58;112	ENSP00000285311:H158Y;ENSP00000421255:H58Y;ENSP00000423797:H112Y	ENSP00000285311:H158Y	H	-	1	0	DKK2	108065208	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.448000	0.52943	2.669000	0.90835	0.585000	0.79938	CAT	-	NULL		0.433	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	protein_coding	OTTHUMT00000253959.4	G		-		107845759	-1	no_errors	ENST00000285311	ensembl	human	novel	74_37	missense	SNP	0.993	A	A	107845759	G	A	107845759	3	1	102	1	0	0	0	0	1	0	0	0	4547	1348	47	2	315	2	DKK2	4	107845759	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8545517	107845759	83308517	210	6120											
ANK2	287	genome.wustl.edu	37	chr4	114203899	114203899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcttccacactcctgaaCtatggagcagagacaaacat	7	11	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:114203899C>T	ENST00000357077.4	+	18	2003	c.1950C>T	c.(1948-1950)aaC>aaT	p.N650N	ANK2_ENST00000264366.6_Silent_p.N650N|ANK2_ENST00000394537.3_Silent_p.N650N|ANK2_ENST00000506722.1_Silent_p.N629N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	650					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)		CACTCCTGAACTATGGAGCAG	0.423																																																	0								ENSG00000145362						117	98	104					4																	114203899		2203	4300	6503	ANK2	SO:0001819	synonymous_variant	0			-	HGNC	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.1950C>T	4.37:g.114203899C>T		Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.N650	ENST00000357077.4	37	c.1950	CCDS3702.1	4																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	C	NM_001148	-		114203899	1	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	SNP	1.000	T	T	114203899	C	T	114203899	2	4	102	1	0	0	0	0	0	0	0	1	621	564	20	2		2	ANK2	4	114203899	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6358140	114203899	76950377	211	6121											
NDST3	9348	genome.wustl.edu	37	chr4	118975802	118975802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagaaaacctttctcCttccatctctaaaggtgctt	5	14	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:118975802C>T	ENST00000296499.5	+	2	1140	c.737C>T	c.(736-738)cCt>cTt	p.P246L	NDST3_ENST00000433996.2_Missense_Mutation_p.P246L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	246	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AACCTTTCTCCTTCCATCTCT	0.393																																																	0								ENSG00000164100						129	127	127					4																	118975802		2203	4299	6502	NDST3	SO:0001583	missense	0			-	HGNC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.737C>T	4.37:g.118975802C>T	ENSP00000296499:p.Pro246Leu	Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P246L	ENST00000296499.5	37	c.737	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	C	9.622	1.134053	0.21123	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.42900	1.3;0.96	5.07	5.07	0.68467	.	0.179413	0.51477	D	0.000097	T	0.55130	0.1901	L	0.38531	1.155	0.54753	D	0.999989	P;B;D	0.89917	0.611;0.005;1.0	B;B;D	0.91635	0.196;0.013;0.999	T	0.48647	-0.9017	10	0.26408	T	0.33	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	246;246;246	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	246	ENSP00000296499:P246L;ENSP00000396625:P246L	ENSP00000296499:P246L	P	+	2	0	NDST3	119195250	0.983000	0.35010	1.000000	0.80357	0.478000	0.33099	1.786000	0.38694	2.346000	0.79739	0.655000	0.94253	CCT	-	pfam_Heparan_SO4_deacetylase		0.393	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	protein_coding	OTTHUMT00000256517.4	C	NM_004784	-		118975802	1	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	SNP	0.980	T	T	118975802	C	T	118975802	3	4	102	1	0	0	0	0	1	0	0	0	10259	681	24	2	739	2	NDST3	4	118975802	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4771903	118975802	72178474	212	6122											
FAT4	79633	genome.wustl.edu	37	chr4	126239533	126239533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagagcaagccttctactCcctgttggttctggccacag	10	12	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:126239533C>T	ENST00000394329.3	+	1	1980	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	656	Cadherin 6. {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						GCCTTCTACTCCCTGTTGGTT	0.517																																																	0								ENSG00000196159						83	82	83					4																	126239533		1934	4129	6063	FAT4	SO:0001583	missense	0			-	HGNC	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.1967C>T	4.37:g.126239533C>T	ENSP00000377862:p.Ser656Phe	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S656F	ENST00000394329.3	37	c.1967	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708692	0.15239	.	.	ENSG00000196159	ENST00000394329	T	0.01854	4.6	4.76	3.9	0.45041	Cadherin (4);Cadherin-like (1);	0.233908	0.21210	U	0.078324	T	0.04227	0.0117	L	0.41961	1.31	0.80722	D	1	B	0.32893	0.389	B	0.41299	0.353	T	0.54642	-0.8263	10	0.30078	T	0.28	.	14.6967	0.69126	0.0:0.849:0.151:0.0	.	656	Q6V0I7	FAT4_HUMAN	F	656	ENSP00000377862:S656F	ENSP00000377862:S656F	S	+	2	0	FAT4	126458983	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.655000	0.54460	1.183000	0.42943	0.655000	0.94253	TCC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	C	NM_024582	-		126239533	1	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126239533	C	T	126239533	3	4	102	1	0	0	0	0	1	0	0	0	5694	855	30	2	1969	2	FAT4	4	126239533	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	7263731	126239533	64914743	213	6123											
ZNF827	152485	genome.wustl.edu	37	chr4	146824106	146824106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagaagacactcccgggGaaaggtgatcttgacactgc	11	10	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:146824106G>A	ENST00000508784.1	-	2	532	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.S102F			Q17R98	ZN827_HUMAN	zinc finger protein 827	102					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)					CACTCCCGGGGAAAGGTGATC	0.582																																																	0								ENSG00000151612						72	66	68					4																	146824106		2203	4300	6503	ZNF827	SO:0001583	missense	0			-	HGNC	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.305C>T	4.37:g.146824106G>A	ENSP00000421863:p.Ser102Phe	Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S102F	ENST00000508784.1	37	c.305		4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075654	0.76415	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.13089	2.62;2.66	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.01715	-1.1289	10	0.87932	D	0	-17.3103	20.3437	0.98782	0.0:0.0:1.0:0.0	.	102;102	Q17R98;Q17R98-2	ZN827_HUMAN;.	F	102;102;101	ENSP00000421863:S102F;ENSP00000368761:S102F	ENSP00000281318:S101F	S	-	2	0	ZNF827	147043556	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.539000	0.82063	2.815000	0.96918	0.561000	0.74099	TCC	-	NULL		0.582	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	G	NM_178835	-		146824106	-1	no_errors	ENST00000508784	ensembl	human	known	74_37	missense	SNP	1.000	A	A	146824106	G	A	146824106	3	1	102	1	0	0	0	0	1	0	0	0	18187	1174	41	2	2976	2	ZNF827	4	146824106	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	20584573	146824106	44330170	214	6124											
NPY2R	4887	genome.wustl.edu	37	chr4	156135355	156135355	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcacagtaaccaactttttCattgccaatctggctgtggc	8	12	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:156135355C>T	ENST00000329476.3	+	2	753	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NPY2R_ENST00000506608.1_Silent_p.F88F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	88					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCAACTTTTTCATTGCCAATC	0.473																																																	0								ENSG00000185149						112	112	112					4																	156135355		2203	4300	6503	NPY2R	SO:0001819	synonymous_variant	0			-	HGNC	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.264C>T	4.37:g.156135355C>T		Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.F88	ENST00000329476.3	37	c.264	CCDS3791.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.473	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	protein_coding	OTTHUMT00000365128.1	C	NM_000910	-		156135355	1	no_errors	ENST00000329476	ensembl	human	known	74_37	silent	SNP	1.000	T	T	156135355	C	T	156135355	2	4	102	1	0	0	0	0	0	0	0	1	10611	825	29	2		2	NPY2R	4	156135355	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9311249	156135355	35018921	215	6125											
GUCY1A3	2982	genome.wustl.edu	37	chr4	156638447	156638447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtctccccatggagaacCtatcaaggtaaggcagatga	10	9	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:156638447C>T	ENST00000296518.7	+	8	1918	c.1709C>T	c.(1708-1710)cCt>cTt	p.P570L	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P570L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P570L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P570L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P570L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P312L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P570L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	570	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CATGGAGAACCTATCAAGGTA	0.428																																																	0								ENSG00000164116						101	93	96					4																	156638447		2203	4300	6503	GUCY1A3	SO:0001583	missense	0			-	HGNC		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1709C>T	4.37:g.156638447C>T	ENSP00000296518:p.Pro570Leu	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P570L	ENST00000296518.7	37	c.1709	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637637	0.47049	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.64	5.64	0.86602	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.85279	0.5660	M	0.83012	2.62	0.58432	D	0.99999	B;B	0.18610	0.029;0.029	B;B	0.23716	0.048;0.048	T	0.82804	-0.0276	10	0.62326	D	0.03	.	8.9284	0.35655	0.149:0.7769:0.0:0.0742	.	570;570	B3KU69;Q02108	.;GCYA3_HUMAN	L	570;570;570;570;312;570;570	ENSP00000424361:P570L;ENSP00000421493:P570L;ENSP00000426968:P570L;ENSP00000412201:P570L;ENSP00000377418:P312L;ENSP00000296518:P570L;ENSP00000426040:P570L	ENSP00000296518:P570L	P	+	2	0	GUCY1A3	156857897	0.978000	0.34361	0.964000	0.40570	0.990000	0.78478	2.498000	0.45363	2.646000	0.89796	0.655000	0.94253	CCT	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.428	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	protein_coding	OTTHUMT00000365786.2	C		-		156638447	1	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	SNP	0.948	T	T	156638447	C	T	156638447	3	4	102	1	0	0	0	0	1	0	0	0	6896	681	24	2	1746	2	GUCY1A3	4	156638447	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	503092	156638447	34515829	216	6126											
MFAP3L	9848	genome.wustl.edu	37	chr4	170912851	170912851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgcagcgatgaggcgtccGagtcagcggcaggggagtcg	19	10	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:170912851G>A	ENST00000361618.3	-	3	1215	c.908C>T	c.(907-909)tCg>tTg	p.S303L	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.S200L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGAGGCGTCCGAGTCAGCGGC	0.572																																																	0								ENSG00000198948						57	52	54					4																	170912851		2203	4300	6503	MFAP3L	SO:0001583	missense	0			-	HGNC	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.908C>T	4.37:g.170912851G>A	ENSP00000354583:p.Ser303Leu	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S303L	ENST00000361618.3	37	c.908	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410022	0.62399	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.99121	-5.45;-2.63	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99910	1.1198	10	0.87932	D	0	-39.2895	19.4623	0.94922	0.0:0.0:1.0:0.0	.	303	O75121	MFA3L_HUMAN	L	200;303	ENSP00000377307:S200L;ENSP00000354583:S303L	ENSP00000354583:S303L	S	-	2	0	MFAP3L	171149426	1.000000	0.71417	0.928000	0.36995	0.016000	0.09150	9.803000	0.99136	2.591000	0.87537	0.650000	0.86243	TCG	-	NULL		0.572	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	protein_coding	OTTHUMT00000363043.2	G	NM_021647	-		170912851	-1	no_errors	ENST00000361618	ensembl	human	known	74_37	missense	SNP	1.000	A	A	170912851	G	A	170912851	3	1	102	1	0	0	0	0	1	0	0	0	9518	1059	37	1	325	1	MFAP3L	4	170912851	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	14274404	170912851	20241425	217	6127											
GALNTL6	442117	genome.wustl.edu	37	chr4	173734807	173734807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgaggagccttcgactggGaaatgtactacaaaagaatc	11	8	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:173734807G>A	ENST00000506823.1	+	7	1513	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.E269K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	286					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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTTCGACTGGGAAATGTACTA	0.557																																																	0								ENSG00000174473						93	88	90					4																	173734807		2203	4300	6503	GALNTL6	SO:0001583	missense	0			-	HGNC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.856G>A	4.37:g.173734807G>A	ENSP00000423313:p.Glu286Lys	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q2L4S6	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E286K	ENST00000506823.1	37	c.856	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628270	0.87560	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.59638	0.25;0.25	5.97	5.97	0.96955	Glycosyl transferase, family 2 (1);	0.079635	0.51477	D	0.000089	T	0.65831	0.2729	L	0.33339	1.005	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.55055	-0.8200	10	0.09338	T	0.73	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	286	Q49A17	GLTL6_HUMAN	K	286;269	ENSP00000423313:E286K;ENSP00000423827:E269K	ENSP00000423313:E286K	E	+	1	0	GALNTL6	173971382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.875000	0.87205	2.836000	0.97738	0.655000	0.94253	GAA	-	pfam_Glyco_trans_2		0.557	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	G	NM_001034845	-		173734807	1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	SNP	1.000	A	A	173734807	G	A	173734807	3	1	102	1	0	0	0	0	1	0	0	0	6227	1175	41	2	878	2	GALNTL6	4	173734807	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2821956	173734807	17419469	218	6128											
IRF2	3660	genome.wustl.edu	37	chr4	185350106	185350137	+	Splice_Site	DEL	ACATACACCCACCCTGACCCACTCACCTTGTT	ACATACACCCACCCTGACCCACTCACCTTGTT	-													tcagccaggacctctctcacAcatacacccaccctgaccca					rs369499558		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	ACATACACCCACCCTGACCCACTCACCTTGTT	ACATACACCCACCCTGACCCACTCACCTTGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:185350106_185350137delACATACACCCACCCTGACCCACTCACCTTGTT	ENST00000393593.3	-	2	289_295	c.82_88delAACAAGGTGAGTGGGTCAGGGTGGGTGTATGT	c.(82-90)aacaaggtg>tg	p.NKV28fs	IRF2_ENST00000512020.1_5'UTR|SNORD79_ENST00000516069.1_RNA	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	28					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCTCTCTCACACATACACCCACCCTGACCCACTCACCTTGTTAAGCCACTTG	0.53																																																	0								ENSG00000168310																																			IRF2	SO:0001630	splice_region_variant	0				HGNC		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.87+1AACAAGGTGAGTGGGTCAGGGTGGGTGTATGT>-	4.37:g.185350106_185350137delACATACACCCACCCTGACCCACTCACCTTGTT		Somatic					0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Frame_Shift_Del	DEL							pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.N28fs	ENST00000393593.3	37	c.113_82	CCDS3835.1	4																																																																																			-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2		0.53	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2	protein_coding	OTTHUMT00000361393.1	ACATACACCCACCCTGACCCACTCACCTTGTT			Frame_Shift_Del	185350137	-1	no_errors	ENST00000393593	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.001:0.001:0.002:0.002:0.021:0.006:0.188:0.182:0.003:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.925:0.938:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	185350137	ACATACACCCACCCTGACCCACTCACCTTGTT	-	185350106	8	5	102	1	0	1	0	1	0	0	1	0	7830	174	6	0		0	IRF2	4	185350106	Splice_Site	DEL	ACATACACCCACCCTGACCCACTCACCTTGTT	TCGA-DX-A8BP-01A-11D-A37C-09	11615299	185350106	5804170	219	6129											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	169651	169651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagcagcacttcctccggGagctggagcgctgccagcac	12	16	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:169651G>A	ENST00000283426.6	+	12	2655	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	869	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTTCCTCCGGGAGCTGGAGCG	0.627																																																	0								ENSG00000153404						72	74	74					5																	169651		2203	4300	6503	PLEKHG4B	SO:0001583	missense	0			-	HGNC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2605G>A	5.37:g.169651G>A	ENSP00000283426:p.Glu869Lys	Somatic	1	106	0.93		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.88		Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E869K	ENST00000283426.6	37	c.2605	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629111	0.87560	.	.	ENSG00000153404	ENST00000283426	T	0.30714	1.52	3.55	3.55	0.40652	Dbl homology (DH) domain (5);	.	.	.	.	T	0.56587	0.1995	M	0.83384	2.64	0.37054	D	0.897757	D	0.89917	1.0	D	0.81914	0.995	T	0.69072	-0.5242	9	0.87932	D	0	.	12.6189	0.56592	0.0:0.0:1.0:0.0	.	869	Q96PX9	PKH4B_HUMAN	K	869	ENSP00000283426:E869K	ENSP00000283426:E869K	E	+	1	0	PLEKHG4B	222651	1.000000	0.71417	0.702000	0.30337	0.893000	0.52053	8.115000	0.89572	1.514000	0.48869	0.467000	0.42956	GAG	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	G	NM_052909	-		169651	1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	SNP	0.997	A	A	169651	G	A	169651	3	1	102	1	0	0	0	0	1	0	0	0	12074	1175	41	2	2651	2	PLEKHG4B	5	169651	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		169651	180745609	220	6130											
SLC12A7	10723	genome.wustl.edu	37	chr5	1075560	1075560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgtagtaccaggagcagatGaacatcagcgccaggcacag	13	11	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:1075560G>A	ENST00000264930.5	-	15	1936	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	631					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGGAGCAGATGAACATCAGCG	0.637																																																	0								ENSG00000113504						74	65	68					5																	1075560		2201	4300	6501	SLC12A7	SO:0001819	synonymous_variant	0			-	HGNC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1893C>T	5.37:g.1075560G>A		Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F631	ENST00000264930.5	37	c.1893	CCDS34129.1	5																																																																																			-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	protein_coding	OTTHUMT00000366446.2	G	NM_006598	-		1075560	-1	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	SNP	1.000	A	A	1075560	G	A	1075560	2	1	102	1	0	0	0	0	0	0	0	1	14396	1281	45	2		2	SLC12A7	5	1075560	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	905909	1075560	179839700	221	6131											
DNAH5	1767	genome.wustl.edu	37	chr5	13727761	13727761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacattttctcatttctcGatatctgaaaataccatggg	5	10	3	1	rs191057833		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:13727761G>A	ENST00000265104.4	-	70	11992	c.11888C>T	c.(11887-11889)tCg>tTg	p.S3963L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3963					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)					CTCATTTCTCGATATCTGAAA	0.398									Kartagener syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		13529	0		0	False		,,,				2504	0																0								ENSG00000039139						86	87	87					5																	13727761		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GMAF=0.0005	HGNC	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.11888C>T	5.37:g.13727761G>A	ENSP00000265104:p.Ser3963Leu	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S3963L	ENST00000265104.4	37	c.11888	CCDS3882.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.05	3.536014	0.64972	.	.	ENSG00000039139	ENST00000265104	T	0.08720	3.06	5.49	5.49	0.81192	Dynein heavy chain (1);	0.347798	0.30911	N	0.008633	T	0.12561	0.0305	L	0.52573	1.65	0.53688	D	0.99997	B	0.24920	0.114	B	0.25291	0.059	T	0.03587	-1.1022	10	0.49607	T	0.09	.	19.3861	0.94556	0.0:0.0:1.0:0.0	.	3963	Q8TE73	DYH5_HUMAN	L	3963	ENSP00000265104:S3963L	ENSP00000265104:S3963L	S	-	2	0	DNAH5	13780761	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.326000	0.65875	2.594000	0.87642	0.650000	0.86243	TCG	-	pfam_Dynein_heavy_dom		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	rs191057833		13727761	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	A	A	13727761	G	A	13727761	3	1	102	1	0	0	0	0	1	0	0	0	4606	1059	37	1	2026	1	DNAH5	5	13727761	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12652201	13727761	167187499	222	6132											
FBXL7	23194	genome.wustl.edu	37	chr5	15928035	15928035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacactgagcacgcccaGcccagccctgatatgtccac	9	18	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:15928035G>A	ENST00000504595.1	+	3	645	c.164G>A	c.(163-165)aGc>aAc	p.S55N	FBXL7_ENST00000329673.7_Missense_Mutation_p.S43N|FBXL7_ENST00000510662.1_Missense_Mutation_p.S8N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	55					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)			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						AGCACGCCCAGCCCAGCCCTG	0.597																																																	0								ENSG00000183580						87	97	94					5																	15928035		2091	4212	6303	FBXL7	SO:0001583	missense	0			-	HGNC	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.164G>A	5.37:g.15928035G>A	ENSP00000423630:p.Ser55Asn	Somatic	0	91	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	37	35.09	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S55N	ENST00000504595.1	37	c.164	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725387	0.89298	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.11385	2.82;2.78;2.81	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.27053	0.805	0.80722	D	1	D	0.54601	0.967	P	0.57776	0.827	T	0.01152	-1.1435	10	0.39692	T	0.17	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	55	Q9UJT9	FBXL7_HUMAN	N	55;8;43	ENSP00000423630:S55N;ENSP00000425184:S8N;ENSP00000329632:S43N	ENSP00000329632:S43N	S	+	2	0	FBXL7	15981035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.206000	0.95056	2.571000	0.86741	0.563000	0.77884	AGC	-	NULL		0.597	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	protein_coding	OTTHUMT00000366117.1	G	NM_012304	-		15928035	1	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15928035	G	A	15928035	3	1	102	1	0	0	0	0	1	0	0	0	5726	971	34	2	174	2	FBXL7	5	15928035	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2200274	15928035	164987225	223	6133											
C5orf42	65250	genome.wustl.edu	37	chr5	37176029	37176029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctagaaatttctgaactcGtatctacttgcattgattga	6	8	2	4	rs141126113		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:37176029G>A	ENST00000508244.1	-	30	6053	c.5960C>T	c.(5959-5961)aCg>aTg	p.T1987M	C5orf42_ENST00000425232.2_Missense_Mutation_p.T1987M|C5orf42_ENST00000274258.7_Missense_Mutation_p.T867M			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1987						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTGAACTCGTATCTACTTG	0.343																																																	0								ENSG00000197603	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	183	196	192		5960	1.6	0.9	5	dbSNP_134	192	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5orf42	NM_023073.3	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1987/3198	37176029	2,13004	2203	4300	6503	C5orf42	SO:0001583	missense	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5960C>T	5.37:g.37176029G>A	ENSP00000421690:p.Thr1987Met	Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP							superfamily_Quino_amine_DH_bsu	p.T1987M	ENST00000508244.1	37	c.5960	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547316	0.27652	2.27E-4	1.16E-4	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.77	1.63	0.23807	.	0.168099	0.33670	N	0.004665	T	0.20820	0.0501	L	0.29908	0.895	0.22142	N	0.999339	D;D	0.59357	0.985;0.985	P;P	0.51385	0.668;0.668	T	0.06716	-1.0811	10	0.38643	T	0.18	.	3.6796	0.08305	0.0801:0.1334:0.4069:0.3796	.	1987;867	E9PH94;Q9H799	.;CE042_HUMAN	M	1987;1987;867;1035;867	ENSP00000421690:T1987M;ENSP00000389014:T1987M;ENSP00000274258:T867M;ENSP00000424223:T1035M	ENSP00000274258:T867M	T	-	2	0	C5orf42	37211786	0.312000	0.24545	0.917000	0.36280	0.135000	0.20990	0.387000	0.20718	0.307000	0.22880	0.655000	0.94253	ACG	-	NULL		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	G	NM_023073	rs141126113		37176029	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	SNP	0.702	A	A	37176029	G	A	37176029	3	1	102	1	0	0	0	0	1	0	0	0	2303	1145	40	1	3721	1	C5orf42	5	37176029	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	21247994	37176029	143739231	224	6134											
C5orf34	375444	genome.wustl.edu	37	chr5	43492369	43492369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taactgctcttgtccatcagGaaaagttaacttacaccaac	5	11	2	0	rs199593005		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:43492369G>A	ENST00000306862.2	-	10	1903	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	510										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGTCCATCAGGAAAAGTTAAC	0.284																																																	0								ENSG00000172244						91	88	89					5																	43492369		2203	4291	6494	C5orf34	SO:0001583	missense	0			-	HGNC	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1528C>T	5.37:g.43492369G>A	ENSP00000303490:p.Pro510Ser	Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	39	35.00		Missense_Mutation	SNP							NULL	p.P510S	ENST00000306862.2	37	c.1528	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435311	0.83885	.	.	ENSG00000172244	ENST00000306862	T	0.71579	-0.58	5.84	5.84	0.93424	.	0.128747	0.52532	D	0.000061	D	0.84047	0.5386	M	0.75447	2.3	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	T	0.82944	-0.0206	10	0.42905	T	0.14	-20.0559	17.9336	0.89006	0.0:0.0:1.0:0.0	.	510	Q96MH7	CE034_HUMAN	S	510	ENSP00000303490:P510S	ENSP00000303490:P510S	P	-	1	0	C5orf34	43528126	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.662000	0.68032	2.748000	0.94277	0.650000	0.86243	CCT	-	NULL		0.284	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	protein_coding	OTTHUMT00000253843.1	G	NM_198566	rs199593005		43492369	-1	no_errors	ENST00000306862	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43492369	G	A	43492369	3	1	102	1	0	0	0	0	1	0	0	0	2295	1174	41	2	404	2	C5orf34	5	43492369	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6316340	43492369	137422891	225	6135											
ACTBL2	345651	genome.wustl.edu	37	chr5	56778454	56778454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggaacacagcccggggGgcatcgtcaccaccaaagcc	14	14	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:56778454G>A	ENST00000423391.1	-	1	182	c.81C>T	c.(79-81)gcC>gcT	p.A27A	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	27						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)		CAGCCCGGGGGGCATCGTCAC	0.582																																																	0								ENSG00000169067						83	58	66					5																	56778454		2203	4300	6503	ACTBL2	SO:0001819	synonymous_variant	0			-	HGNC		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.81C>T	5.37:g.56778454G>A		Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	101	21	81.45	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A27	ENST00000423391.1	37	c.81	CCDS34163.1	5																																																																																			-	pfam_Actin-related,smart_Actin-related,prints_Actin-related		0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	G	NM_001017992	-		56778454	-1	no_errors	ENST00000423391	ensembl	human	known	74_37	silent	SNP	0.999	A	A	56778454	G	A	56778454	2	1	102	1	0	0	0	0	0	0	0	1	194	1219	43	2		2	ACTBL2	5	56778454	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	13286085	56778454	124136806	226	6136											
MAST4	375449	genome.wustl.edu	37	chr5	66459948	66459948	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggcaccctccaggaTggtctctgccactccctcga	9	18	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:66459948T>A	ENST00000403625.2	+	29	5236	c.4941T>A	c.(4939-4941)gaT>gaA	p.D1647E	MAST4_ENST00000403666.1_Missense_Mutation_p.D1458E|MAST4_ENST00000404260.3_Missense_Mutation_p.D1650E|MAST4_ENST00000261569.7_Missense_Mutation_p.D1453E|MAST4_ENST00000405643.1_Missense_Mutation_p.D1468E	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1650						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCCTCCAGGATGGTCTCTGCC	0.667																																																	0								ENSG00000069020						11	13	12					5																	66459948		1923	4105	6028	MAST4	SO:0001583	missense	0			-	HGNC	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4941T>A	5.37:g.66459948T>A	ENSP00000385727:p.Asp1647Glu	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.D1650E	ENST00000403625.2	37	c.4950	CCDS54861.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.16|18.16	3.562726|3.562726	0.65538|0.65538	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.69435|.	-0.39;-0.39;-0.4;-0.4;-0.38|.	5.09|5.09	-2.64|-2.64	0.06114|0.06114	.|.	1.881550|.	0.02625|.	N|.	0.103631|.	T|T	0.29945|0.29945	0.0749|0.0749	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.24043|.	0.058;0.096|.	B;B|.	0.25614|.	0.028;0.062|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|5	0.33940|.	T|.	0.23|.	-19.4558|-19.4558	7.3325|7.3325	0.26590|0.26590	0.1288:0.2471:0.0:0.6241|0.1288:0.2471:0.0:0.6241	.|.	1650;1458|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	E|R	1650;1647;1458;1468;1468;1453|704	ENSP00000385048:D1650E;ENSP00000385727:D1647E;ENSP00000384313:D1458E;ENSP00000384099:D1468E;ENSP00000261569:D1453E|.	ENSP00000261569:D1453E|.	D|W	+|+	3|1	2|0	MAST4|MAST4	66495704|66495704	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.118000|0.118000	0.20060|0.20060	-1.359000|-1.359000	0.02602|0.02602	-0.866000|-0.866000	0.04068|0.04068	-0.899000|-0.899000	0.02877|0.02877	GAT|TGG	-	NULL		0.667	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	protein_coding	OTTHUMT00000326324.2	T		-		66459948	1	no_errors	ENST00000404260	ensembl	human	known	74_37	missense	SNP	0.001	A	A	66459948	T	A	66459948	3	1	102	1	0	0	0	0	1	0	0	0	9329	1461	51	5	5185	5	MAST4	5	66459948	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	9681494	66459948	114455312	227	6137											
AGGF1	55109	genome.wustl.edu	37	chr5	76342453	76342453	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgaggatagttatgacgaAgccattaccagtgaaggcaa	11	7	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:76342453A>T	ENST00000312916.7	+	6	1534	c.1152A>T	c.(1150-1152)gaA>gaT	p.E384D		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	384					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GTTATGACGAAGCCATTACCA	0.363																																																	0								ENSG00000164252						127	129	129					5																	76342453		2203	4300	6503	AGGF1	SO:0001583	missense	0			-	HGNC	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1152A>T	5.37:g.76342453A>T	ENSP00000316109:p.Glu384Asp	Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP							pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.E384D	ENST00000312916.7	37	c.1152	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	5.979	0.364489	0.11296	.	.	ENSG00000164252	ENST00000312916	T	0.36878	1.23	4.52	1.88	0.25563	.	0.512072	0.20287	N	0.095322	T	0.12987	0.0315	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10706	-1.0618	10	0.07813	T	0.8	-24.689	3.5545	0.07860	0.5587:0.0:0.1817:0.2597	.	384	Q8N302	AGGF1_HUMAN	D	384	ENSP00000316109:E384D	ENSP00000316109:E384D	E	+	3	2	AGGF1	76378209	0.992000	0.36948	0.787000	0.31911	0.521000	0.34408	0.133000	0.15912	0.824000	0.34613	0.482000	0.46254	GAA	-	NULL		0.363	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	protein_coding	OTTHUMT00000219971.2	A	NM_018046	-		76342453	1	no_errors	ENST00000312916	ensembl	human	known	74_37	missense	SNP	0.983	T	T	76342453	A	T	76342453	3	4	102	1	0	0	0	0	1	0	0	0	382	69	3	5	1174	5	AGGF1	5	76342453	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	9882505	76342453	104572807	228	6138											
HAPLN1	1404	genome.wustl.edu	37	chr5	82940355	82940355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcattgcaccagtccagcCcgccccgccaggcgtcgtac	11	19	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:82940355C>T	ENST00000274341.4	-	4	1452	c.602G>A	c.(601-603)gGg>gAg	p.G201E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	201	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CCAGTCCAGCCCGCCCCGCCA	0.622																																																	0								ENSG00000145681						40	44	43					5																	82940355		2203	4300	6503	HAPLN1	SO:0001583	missense	0			-	HGNC		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.602G>A	5.37:g.82940355C>T	ENSP00000274341:p.Gly201Glu	Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B2R9A9	Missense_Mutation	SNP							pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.G201E	ENST00000274341.4	37	c.602	CCDS4061.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802316	0.90538	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.28666	1.6;1.6	5.8	5.8	0.92144	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.198809	0.53938	D	0.000051	T	0.72358	0.3450	H	0.97682	4.055	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.82396	-0.0478	10	0.87932	D	0	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	201	P10915	HPLN1_HUMAN	E	201	ENSP00000274341:G201E;ENSP00000422592:G201E	ENSP00000274341:G201E	G	-	2	0	HAPLN1	82976111	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	5.757000	0.68766	2.733000	0.93635	0.650000	0.86243	GGG	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN1	protein_coding	OTTHUMT00000239256.2	C	NM_001884	-		82940355	-1	no_errors	ENST00000274341	ensembl	human	known	74_37	missense	SNP	0.999	T	T	82940355	C	T	82940355	3	4	102	1	0	0	0	0	1	0	0	0	6956	623	22	2	470	2	HAPLN1	5	82940355	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6597902	82940355	97974905	229	6139											
PRR16	51334	genome.wustl.edu	37	chr5	120021756	120021756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcaagtggcacaacagcCtccagcctagagaagatcaa	9	12	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:120021756C>T	ENST00000407149.2	+	2	476	c.267C>T	c.(265-267)gcC>gcT	p.A89A	PRR16_ENST00000505123.1_Silent_p.A19A|PRR16_ENST00000379551.2_Silent_p.A66A|PRR16_ENST00000446965.1_Silent_p.A19A			Q569H4	LARGN_HUMAN	proline rich 16	89					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCACAACAGCCTCCAGCCTAG	0.527																																																	0								ENSG00000184838						117	107	110					5																	120021756		2203	4300	6503	PRR16	SO:0001819	synonymous_variant	0			-	HGNC	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.267C>T	5.37:g.120021756C>T		Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP							NULL	p.A89	ENST00000407149.2	37	c.267		5																																																																																			-	NULL		0.527	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	protein_coding	OTTHUMT00000371059.1	C	NM_016644	-		120021756	1	no_errors	ENST00000407149	ensembl	human	known	74_37	silent	SNP	0.583	T	T	120021756	C	T	120021756	2	4	102	1	0	0	0	0	0	0	0	1	12594	668	24	2		2	PRR16	5	120021756	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	37081401	120021756	60893504	230	6140											
PCDHB2	56133	genome.wustl.edu	37	chr5	140475385	140475385	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaacttgtgtggtatttgtCcaagtgatggatttgaatga	13	3	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140475385C>T	ENST00000194155.4	+	1	1159	c.1011C>T	c.(1009-1011)gtC>gtT	p.V337V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	337	Cadherin 3. {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(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTATTTGTCCAAGTGATGG	0.423																																																	0								ENSG00000112852						93	93	93					5																	140475385		2203	4300	6503	PCDHB2	SO:0001819	synonymous_variant	0			-	HGNC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1011C>T	5.37:g.140475385C>T		Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q4KMU1	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V337	ENST00000194155.4	37	c.1011	CCDS4244.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	C	NM_018936	-		140475385	1	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	SNP	0.159	T	T	140475385	C	T	140475385	2	4	102	1	0	0	0	0	0	0	0	1	11544	842	30	2		2	PCDHB2	5	140475385	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	20453629	140475385	40439875	231	6141											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531420	140531420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagtctttcgagttcCgcgtgggcgccacagaccgc	12	16	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140531420C>T	ENST00000231136.1	+	1	1582	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	528	Cadherin 5. {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)			TTTCGAGTTCCGCGTGGGCGC	0.657																																																	0								ENSG00000113211						69	75	73					5																	140531420		2202	4300	6502	PCDHB6	SO:0001583	missense	0			-	HGNC	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.1582C>T	5.37:g.140531420C>T	ENSP00000231136:p.Arg528Cys	Somatic	1	368	0.27		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	83	46.10	B2R8R9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R528C	ENST00000231136.1	37	c.1582	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782911	0.49891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01767	4.65;4.65	4.19	-1.7	0.08159	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05273	0.0140	L	0.55990	1.75	0.09310	N	0.999998	D	0.69078	0.997	P	0.61722	0.893	T	0.29181	-1.0020	9	0.72032	D	0.01	.	9.8273	0.40919	0.2282:0.2257:0.5462:0.0	.	528	Q9Y5E3	PCDB6_HUMAN	C	392;528;313	ENSP00000438466:R392C;ENSP00000231136:R528C	ENSP00000231136:R528C	R	+	1	0	PCDHB6	140511604	0.000000	0.05858	0.995000	0.50966	0.985000	0.73830	-5.233000	0.00139	0.000000	0.14550	0.556000	0.70494	CGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	C	NM_018939	-		140531420	1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	SNP	0.040	T	T	140531420	C	T	140531420	3	4	102	1	0	0	0	0	1	0	0	0	11548	652	23	1	1584	1	PCDHB6	5	140531420	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	56035	140531420	40383840	232	6142											
PCDHB10	56126	genome.wustl.edu	37	chr5	140572571	140572571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaaatacagctgaagGgacagcatttagactagaaa	9	6	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140572571G>A	ENST00000239446.4	+	1	630	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	149	Cadherin 2. {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(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)			ACAGCTGAAGGGACAGCATTT	0.408																																																	0								ENSG00000120324						78	88	85					5																	140572571		2203	4299	6502	PCDHB10	SO:0001583	missense	0			-	HGNC	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	ENST00000239446.4:c.446G>A	5.37:g.140572571G>A	ENSP00000239446:p.Gly149Glu	Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	Q96T99	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G149E	ENST00000239446.4	37	c.446	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610229	0.46527	.	.	ENSG00000120324	ENST00000239446	T	0.04454	3.62	3.52	3.52	0.40303	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.20981	0.0505	M	0.91663	3.23	0.42109	D	0.991375	D	0.59767	0.986	P	0.59012	0.85	T	0.02844	-1.1103	9	0.72032	D	0.01	.	10.1886	0.43013	0.1012:0.0:0.8988:0.0	.	149	Q9UN67	PCDBA_HUMAN	E	149	ENSP00000239446:G149E	ENSP00000239446:G149E	G	+	2	0	PCDHB10	140552755	1.000000	0.71417	0.069000	0.20011	0.416000	0.31233	4.600000	0.61083	1.990000	0.58119	0.556000	0.70494	GGG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.408	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	protein_coding	OTTHUMT00000251821.1	G	NM_018930	-		140572571	1	no_errors	ENST00000239446	ensembl	human	known	74_37	missense	SNP	0.938	A	A	140572571	G	A	140572571	3	1	102	1	0	0	0	0	1	0	0	0	11537	1232	43	2	448	2	PCDHB10	5	140572571	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	41151	140572571	40342689	233	6143											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595648	140595648	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggacaatggcgagcctccGcgctcggccaccgccacgct	12	17	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140595648G>T	ENST00000341948.4	+	1	2140	c.1953G>T	c.(1951-1953)ccG>ccT	p.P651P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	651	Cadherin 6. {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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCCTCCGCGCTCGGCCA	0.726																																																	0								ENSG00000187372						15	18	17					5																	140595648		1667	3369	5036	PCDHB13	SO:0001819	synonymous_variant	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1953G>T	5.37:g.140595648G>T		Somatic	0	135	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	37	40.32	A8K9V6	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P651	ENST00000341948.4	37	c.1953	CCDS4255.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.726	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	G	NM_018933	-		140595648	1	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	SNP	0.886	T	T	140595648	G	T	140595648	2	4	102	1	0	0	0	0	0	0	0	1	11540	1074	38	3		3	PCDHB13	5	140595648	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	23077	140595648	40319612	234	6144											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140734786	140734786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatggcggcgcctcctgctCgcccagaccacacccggctg	11	18	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140734786C>T	ENST00000571252.1	+	1	19	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	7					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCCTGCTCGCCCAGACCA	0.617																																																	0								ENSG00000262576						23	29	27					5																	140734786		1916	4142	6058	PCDHGA4	SO:0001583	missense	0			-	HGNC	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.19C>T	5.37:g.140734786C>T	ENSP00000458570:p.Arg7Cys	Somatic	0	152	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	41	50.59	Q9Y5D3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R7C	ENST00000571252.1	37	c.19	CCDS58979.1	5																																																																																			-	NULL		0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	C	NM_018917	-		140734786	1	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	SNP	0.000	T	T	140734786	C	T	140734786	3	4	102	1	0	0	0	0	1	0	0	0	11558	884	31	1	21	1	PCDHGA4	5	140734786	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	139138	140734786	40180474	235	6145											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140869978	140869978	+	Missense_Mutation	SNP	C	C	T													aagtgagccttgatatctctCcggacctgccatttcagatt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140869978C>T	ENST00000252087.1	+	1	1171	c.1171C>T	c.(1171-1173)Ccg>Tcg	p.P391S	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATATCTCTCCGGACCTGCC	0.532																																																	0								ENSG00000240764						122	125	124					5																	140869978		2203	4300	6503	PCDHGC5	SO:0001583	missense	0			-	HGNC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1171C>T	5.37:g.140869978C>T	ENSP00000252087:p.Pro391Ser	Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q9Y5C2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P391S	ENST00000252087.1	37	c.1171	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	3.679	-0.065918	0.07273	.	.	ENSG00000240764	ENST00000252087	T	0.01613	4.73	5.56	4.64	0.57946	Cadherin (4);Cadherin-like (1);	0.111452	0.41001	N	0.000961	T	0.01489	0.0048	N	0.21508	0.67	0.24488	N	0.994313	P;B	0.45044	0.849;0.437	B;B	0.40506	0.331;0.194	T	0.50947	-0.8767	10	0.12103	T	0.63	.	9.7506	0.40473	0.1368:0.7852:0.0:0.078	.	391;391	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	S	391	ENSP00000252087:P391S	ENSP00000252087:P391S	P	+	1	0	PCDHGC5	140850162	0.048000	0.20356	0.786000	0.31890	0.975000	0.68041	2.607000	0.46300	1.471000	0.48121	0.655000	0.94253	CCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	protein_coding	OTTHUMT00000251819.1	C	NM_018929	-		140869978	1	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	SNP	0.533	T	T	140869978	C	T	140869978	3	4	102	1	0	0	0	0	1	0	0	0	11573	855	30	2	1173	2	PCDHGC5	5	140869978	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	135192	140869978	40045282	236	6146	76	2									
PCDHGC5	56097	genome.wustl.edu	37	chr5	140869979	140869979	+	Missense_Mutation	SNP	C	C	T													agtgagccttgatatctctcCggacctgccatttcagatta					rs2233605		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140869979C>T	ENST00000252087.1	+	1	1172	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATCTCTCCGGACCTGCCA	0.532																																																	0								ENSG00000240764						121	125	124					5																	140869979		2203	4300	6503	PCDHGC5	SO:0001583	missense	0			-	HGNC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1172C>T	5.37:g.140869979C>T	ENSP00000252087:p.Pro391Leu	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q9Y5C2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P391L	ENST00000252087.1	37	c.1172	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503037	0.44558	.	.	ENSG00000240764	ENST00000252087	T	0.01705	4.68	5.56	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.111452	0.41001	D	0.000961	T	0.07593	0.0191	M	0.77406	2.37	0.35230	D	0.776792	D;D	0.76494	0.999;0.991	D;P	0.65684	0.937;0.88	T	0.14504	-1.0470	10	0.44086	T	0.13	.	7.9797	0.30177	0.1304:0.7283:0.0:0.1412	.	391;391	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	L	391	ENSP00000252087:P391L	ENSP00000252087:P391L	P	+	2	0	PCDHGC5	140850163	0.003000	0.15002	0.621000	0.29145	0.972000	0.66771	0.755000	0.26405	0.908000	0.36671	0.655000	0.94253	CCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	protein_coding	OTTHUMT00000251819.1	C	NM_018929	-		140869979	1	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	SNP	0.510	T	T	140869979	C	T	140869979	3	4	102	1	0	0	0	0	1	0	0	0	11573	652	23	1	1174	1	PCDHGC5	5	140869979	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	140869979	40045281	237	6147	76	2									
TCERG1	10915	genome.wustl.edu	37	chr5	145883505	145883505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaaacaaaagaaatagatcGagagagagagcagcacaaac	9	7	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:145883505G>T	ENST00000296702.5	+	18	2704	c.2666G>T	c.(2665-2667)cGa>cTa	p.R889L	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R868L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	889					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATAGATCGAGAGAGAGAG	0.418																																																	0								ENSG00000113649						104	108	107					5																	145883505		2203	4300	6503	TCERG1	SO:0001583	missense	0			-	HGNC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2666G>T	5.37:g.145883505G>T	ENSP00000296702:p.Arg889Leu	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q2NKN2|Q59EA1	Missense_Mutation	SNP							pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R889L	ENST00000296702.5	37	c.2666	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.732821	0.96856	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.26373	1.74;1.74	5.6	5.6	0.85130	FF domain (2);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.54323	1.7	0.80722	D	1	P;D	0.63880	0.881;0.993	P;D	0.74023	0.7;0.982	T	0.32241	-0.9914	10	0.52906	T	0.07	-9.6022	19.9855	0.97347	0.0:0.0:1.0:0.0	.	868;889	O14776-2;O14776	.;TCRG1_HUMAN	L	889;868	ENSP00000296702:R889L;ENSP00000377943:R868L	ENSP00000296702:R889L	R	+	2	0	TCERG1	145863698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.806000	0.96561	0.655000	0.94253	CGA	-	superfamily_FF_domain		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	protein_coding	OTTHUMT00000251886.1	G	NM_001040006	-		145883505	1	no_errors	ENST00000296702	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145883505	G	T	145883505	3	4	102	1	0	0	0	0	1	0	0	0	15692	1058	37	3	2736	3	TCERG1	5	145883505	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5013526	145883505	35031755	238	6148											
CAMK2A	815	genome.wustl.edu	37	chr5	149629834	149629834	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcaggcagtccacggtCtcctgtctgtgcatgcagga	11	12	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:149629834C>T	ENST00000348628.6	-	11	1520	c.855G>A	c.(853-855)gaG>gaA	p.E285E	CAMK2A_ENST00000398376.3_Silent_p.E285E	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	285					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCACGGTCTCCTGTCTGT	0.602																																																	0								ENSG00000070808						98	96	97					5																	149629834		2125	4257	6382	CAMK2A	SO:0001819	synonymous_variant	0			-	HGNC	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.855G>A	5.37:g.149629834C>T		Somatic	0	92	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E285	ENST00000348628.6	37	c.855	CCDS43386.1	5																																																																																			-	superfamily_Kinase-like_dom		0.602	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	protein_coding	OTTHUMT00000258869.2	C	NM_015981	-		149629834	-1	no_errors	ENST00000398376	ensembl	human	known	74_37	silent	SNP	1.000	T	T	149629834	C	T	149629834	2	4	102	1	0	0	0	0	0	0	0	1	2601	912	32	2		2	CAMK2A	5	149629834	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3746329	149629834	31285426	239	6149											
TCOF1	6949	genome.wustl.edu	37	chr5	149758815	149758815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaccagtgagaaacccCcagaacagtaccgtcttggc	9	14	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:149758815C>T	ENST00000504761.2	+	16	2502	c.2502C>T	c.(2500-2502)ccC>ccT	p.P834P	TCOF1_ENST00000513346.1_Silent_p.P834P|TCOF1_ENST00000439160.2_Silent_p.P834P|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000451292.1_Silent_p.P834P|TCOF1_ENST00000377797.3_Silent_p.P834P|TCOF1_ENST00000394269.3_Silent_p.P834P|TCOF1_ENST00000445265.2_Silent_p.P757P|TCOF1_ENST00000323668.7_Silent_p.P757P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	834					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGAAACCCCCAGAACAGTA	0.572																																																	0								ENSG00000070814						85	97	93					5																	149758815		2203	4300	6503	TCOF1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2502C>T	5.37:g.149758815C>T		Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	15	62.50	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP							pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.P834	ENST00000504761.2	37	c.2502	CCDS54936.1	5																																																																																			-	pfam_TCS_treacle		0.572	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	C	NM_001008656	-		149758815	1	no_errors	ENST00000451292	ensembl	human	known	74_37	silent	SNP	0.159	T	T	149758815	C	T	149758815	2	4	102	1	0	0	0	0	0	0	0	1	15715	610	22	2		2	TCOF1	5	149758815	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	128981	149758815	31156445	240	6150											
SLC36A2	153201	genome.wustl.edu	37	chr5	150696516	150696516	+	Silent	SNP	G	G	A													gcgtccttgaagatggtgagGgggctcatgccctctgagta							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:150696516G>A	ENST00000335244.4	-	10	1443	c.1314C>T	c.(1312-1314)ccC>ccT	p.P438P	SLC36A2_ENST00000450886.1_Silent_p.P162P	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	438					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	AGATGGTGAGGGGGCTCATGC	0.622																																																	0								ENSG00000186335						78	67	71					5																	150696516		2203	4300	6503	SLC36A2	SO:0001819	synonymous_variant	0			-	HGNC	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1314C>T	5.37:g.150696516G>A		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP							pfam_AA_transpt_TM	p.P438	ENST00000335244.4	37	c.1314	CCDS4315.1	5																																																																																			-	pfam_AA_transpt_TM		0.622	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	G		-		150696516	-1	no_errors	ENST00000335244	ensembl	human	known	74_37	silent	SNP	0.430	A	A	150696516	G	A	150696516	2	1	102	1	0	0	0	0	0	0	0	1	14602	1219	43	2		2	SLC36A2	5	150696516	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	937701	150696516	30218744	241	6151	77	2									
SLC36A2	153201	genome.wustl.edu	37	chr5	150696517	150696517	+	Missense_Mutation	SNP	G	G	A													cgtccttgaagatggtgaggGggctcatgccctctgagtag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:150696517G>A	ENST00000335244.4	-	10	1442	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	SLC36A2_ENST00000450886.1_Missense_Mutation_p.P162L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	438					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GATGGTGAGGGGGCTCATGCC	0.627																																																	0								ENSG00000186335						79	68	71					5																	150696517		2203	4300	6503	SLC36A2	SO:0001583	missense	0			-	HGNC	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1313C>T	5.37:g.150696517G>A	ENSP00000334223:p.Pro438Leu	Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.P438L	ENST00000335244.4	37	c.1313	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	6.233	0.411069	0.11812	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.01871	4.59;4.59	4.92	4.05	0.47172	.	0.163302	0.56097	N	0.000033	T	0.02888	0.0086	L	0.60012	1.86	0.80722	D	1	B	0.06786	0.001	B	0.18263	0.021	T	0.38866	-0.9641	10	0.11485	T	0.65	-36.0944	9.4001	0.38426	0.076:0.1435:0.7805:0.0	.	438	Q495M3	S36A2_HUMAN	L	438;162	ENSP00000334223:P438L;ENSP00000399479:P162L	ENSP00000334223:P438L	P	-	2	0	SLC36A2	150676710	0.949000	0.32298	0.895000	0.35142	0.513000	0.34164	1.486000	0.35530	1.436000	0.47453	-0.145000	0.13849	CCC	-	pfam_AA_transpt_TM		0.627	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	G		-		150696517	-1	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	SNP	0.990	A	A	150696517	G	A	150696517	3	1	102	1	0	0	0	0	1	0	0	0	14602	1232	43	2	142	2	SLC36A2	5	150696517	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	150696517	30218743	242	6152	77	2									
G3BP1	10146	genome.wustl.edu	37	chr5	151183496	151183496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcgaagagaagaagacTcgagctgccagggaaggcga	15	7	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:151183496T>C	ENST00000394123.3	+	12	1390	c.1245T>C	c.(1243-1245)acT>acC	p.T415T	G3BP1_ENST00000543466.1_Silent_p.T233T|G3BP1_ENST00000356245.3_Silent_p.T415T			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	415	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGAAGAAGACTCGAGCTGCCA	0.572																																																	0								ENSG00000145907						78	80	79					5																	151183496		2203	4300	6503	G3BP1	SO:0001819	synonymous_variant	0			-	HGNC	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1245T>C	5.37:g.151183496T>C		Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00	Q5HYE9	Silent	SNP							pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.T415	ENST00000394123.3	37	c.1245	CCDS4319.1	5																																																																																			-	pfscan_RRM_dom		0.572	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	protein_coding	OTTHUMT00000252431.1	T	NM_005754	-		151183496	1	no_errors	ENST00000356245	ensembl	human	known	74_37	silent	SNP	0.948	C	C	151183496	T	C	151183496	2	2	102	1	0	0	0	0	0	0	0	1	6143	1538	54	5		5	G3BP1	5	151183496	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	486979	151183496	29731764	243	6153											
ODZ2	57451	genome.wustl.edu	37	chr5	167689283	167689283	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatagccgcaaggtggcatCtgtgctgaacaacgcctact	11	11	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:167689283C>T	ENST00000518659.1	+	29	7832	c.7793C>T	c.(7792-7794)tCt>tTt	p.S2598F	TENM2_ENST00000520394.1_Missense_Mutation_p.S2359F|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597F|TENM2_ENST00000519204.1_Missense_Mutation_p.S2477F|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2598					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)										AAGGTGGCATCTGTGCTGAAC	0.562																																																	0								ENSG00000145934						42	47	45					5																	167689283		2117	4242	6359	TENM2	SO:0001583	missense	0			-	HGNC	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.7793C>T	5.37:g.167689283C>T	ENSP00000429430:p.Ser2598Phe	Somatic	0	15	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q9ULU2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S2598F	ENST00000518659.1	37	c.7793		5	.	.	.	.	.	.	.	.	.	.	C	8.003	0.755819	0.15846	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.2;-2.32;-2.69;-2.68	5.42	5.42	0.78866	.	0.201022	0.44097	D	0.000496	D	0.86201	0.5876	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31435	0.323;0.217;0.078	B;B;B	0.38378	0.272;0.14;0.037	T	0.81180	-0.1050	10	0.87932	D	0	.	12.8866	0.58047	0.0:0.9252:0.0:0.0748	.	2597;2598;2359	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	2598;2597;2477;2359;2422	ENSP00000429430:S2598F;ENSP00000438635:S2597F;ENSP00000428964:S2477F;ENSP00000427874:S2359F;ENSP00000384905:S2422F	ENSP00000384905:S2422F	S	+	2	0	ODZ2	167621861	0.690000	0.27699	0.034000	0.17996	0.674000	0.39518	3.638000	0.54332	2.694000	0.91930	0.655000	0.94253	TCT	-	superfamily_Cytokine_IL1-like		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	C	NM_001122679	-		167689283	1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	0.006	T	T	167689283	C	T	167689283	3	4	102	1	0	0	0	0	1	0	0	0	10837	913	32	2	7880	2	ODZ2	5	167689283	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	16505787	167689283	13225977	244	6154											
NSD1	64324	genome.wustl.edu	37	chr5	176638415	176638415	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtccgacaagagagacctCcctgcttctggtaaaagtcg	10	12	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:176638415C>T	ENST00000439151.2	+	5	3060	c.3015C>T	c.(3013-3015)ctC>ctT	p.L1005L	NSD1_ENST00000347982.4_Silent_p.L736L|NSD1_ENST00000361032.4_Silent_p.L902L|NSD1_ENST00000354179.4_Silent_p.L736L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1005					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		AGAGAGACCTCCCTGCTTCTG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0								ENSG00000165671						123	117	119					5																	176638415		2203	4300	6503	NSD1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	-	HGNC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3015C>T	5.37:g.176638415C>T		Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	4	69.23	Q96PD8|Q96RN7	Silent	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L1005	ENST00000439151.2	37	c.3015	CCDS4412.1	5																																																																																			-	NULL		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	C	NM_172349	-		176638415	1	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	SNP	0.091	T	T	176638415	C	T	176638415	2	4	102	1	0	0	0	0	0	0	0	1	10671	842	30	2		2	NSD1	5	176638415	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8949132	176638415	4276845	245	6155											
GRK6	2870	genome.wustl.edu	37	chr5	176863465	176863465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaggtgaaggagcacccCctctttaagaagctgaactt	11	11	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:176863465C>T	ENST00000355472.5	+	13	1506	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	GRK6_ENST00000528793.1_Silent_p.P446P|GRK6_ENST00000507633.1_Silent_p.P446P|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.P412P|GRK6_ENST00000355958.5_Silent_p.P446P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGAGCACCCCCTCTTTAAGA	0.672																																																	0								ENSG00000198055						37	39	39					5																	176863465		2203	4300	6503	GRK6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1338C>T	5.37:g.176863465C>T		Somatic	0	112	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	24	50.00	O60541|Q13652	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P446	ENST00000355472.5	37	c.1338	CCDS34303.1	5																																																																																			-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.672	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRK6	protein_coding	OTTHUMT00000373204.1	C	NM_002082	-		176863465	1	no_errors	ENST00000528793	ensembl	human	known	74_37	silent	SNP	0.998	T	T	176863465	C	T	176863465	2	4	102	1	0	0	0	0	0	0	0	1	6795	610	22	2		2	GRK6	5	176863465	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	225050	176863465	4051795	246	6156											
FAM193B	54540	genome.wustl.edu	37	chr5	176951573	176951573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgccctgcctcttgcCcttctgtggcttcccacctg	8	18	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:176951573C>T	ENST00000514747.1	-	6	1957	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.G263S|FAM193B_ENST00000443375.2_Missense_Mutation_p.G604S	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	717						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TGCCTCTTGCCCTTCTGTGGC	0.662																																																	0								ENSG00000146067						30	33	32					5																	176951573		2017	4192	6209	FAM193B	SO:0001583	missense	0			-	HGNC		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1909G>A	5.37:g.176951573C>T	ENSP00000422131:p.Gly637Ser	Somatic	0	73	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	26	48.00	E9PET5|Q9NW00	Missense_Mutation	SNP							NULL	p.G604S	ENST00000514747.1	37	c.1810	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.353114|2.353114	0.41700|0.41700	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375;ENST00000329540	.|T;T;T	.|0.40756	.|1.02;1.02;1.02	5.75|5.75	3.7|3.7	0.42460|0.42460	.|.	0.321942|0.321942	0.35179|0.35179	N|N	0.003384|0.003384	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.03608|0.03608	-0.345|-0.345	0.26748|0.26748	N|N	0.970251|0.970251	.|B;B;B	.|0.14438	.|0.01;0.01;0.001	.|B;B;B	.|0.12156	.|0.007;0.007;0.004	T|T	0.29701|0.29701	-1.0003|-1.0003	6|10	.|0.05525	.|T	.|0.97	-15.7993|-15.7993	6.2572|6.2572	0.20879|0.20879	0.0:0.6148:0.0:0.3852|0.0:0.6148:0.0:0.3852	.|.	.|637;263;604	.|E9PET5;E7ER81;E9PEZ8	.|.;.;.	E|S	322|637;604;263	.|ENSP00000422131:G637S;ENSP00000410098:G604S;ENSP00000332014:G263S	.|ENSP00000332014:G263S	G|G	-|-	2|1	0|0	FAM193B|FAM193B	176884179|176884179	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	0.800000|0.800000	0.27042|0.27042	1.403000|1.403000	0.46800|0.46800	0.561000|0.561000	0.74099|0.74099	GGG|GGC	-	NULL		0.662	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	protein_coding	OTTHUMT00000373121.1	C	NM_019057	-		176951573	-1	no_errors	ENST00000443375	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176951573	C	T	176951573	3	4	102	1	0	0	0	0	1	0	0	0	5527	623	22	2	571	2	FAM193B	5	176951573	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	88108	176951573	3963687	247	6157											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26032185	26032185	+	Missense_Mutation	SNP	C	C	T													aacggtgaggctttttcacgCcgccggtagccggcgcgctc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:26032185C>T	ENST00000244661.2	-	1	103	c.104G>A	c.(103-105)gGc>gAc	p.G35D		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	35					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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTTTCACGCCGCCGGTAGC	0.627																																																	0								ENSG00000124693						58	72	68					6																	26032185		2181	4266	6447	HIST1H3B	SO:0001583	missense	0			-	HGNC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.104G>A	6.37:g.26032185C>T	ENSP00000244661:p.Gly35Asp	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	28	45.10	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G35D	ENST00000244661.2	37	c.104	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	12.40	1.925361	0.34002	.	.	ENSG00000124693	ENST00000244661	T	0.49139	0.79	5.19	5.19	0.71726	.	.	.	.	.	T	0.61022	0.2314	.	.	.	0.49687	D	0.999811	.	.	.	.	.	.	T	0.65606	-0.6127	6	0.87932	D	0	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	D	35	ENSP00000244661:G35D	ENSP00000244661:G35D	G	-	2	0	HIST1H3B	26140164	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	7.599000	0.82757	2.577000	0.86979	0.561000	0.74099	GGC	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	protein_coding	OTTHUMT00000040077.1	C	NM_003537	-		26032185	-1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26032185	C	T	26032185	3	4	102	1	0	0	0	0	1	0	0	0	7158	739	26	2	310	2	HIST1H3B	6	26032185	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		26032185	145082882	248	6158	78	2									
HIST1H3B	8358	genome.wustl.edu	37	chr6	26032186	26032186	+	Missense_Mutation	SNP	C	C	T													acggtgaggctttttcacgcCgccggtagccggcgcgctct							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:26032186C>T	ENST00000244661.2	-	1	102	c.103G>A	c.(103-105)Ggc>Agc	p.G35S		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	35					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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTTTCACGCCGCCGGTAGCC	0.627																																																	0								ENSG00000124693						59	73	68					6																	26032186		2176	4261	6437	HIST1H3B	SO:0001583	missense	0			-	HGNC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.103G>A	6.37:g.26032186C>T	ENSP00000244661:p.Gly35Ser	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	28	45.10	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G35S	ENST00000244661.2	37	c.103	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	14.77	2.635866	0.47049	.	.	ENSG00000124693	ENST00000244661	T	0.48522	0.81	5.19	5.19	0.71726	.	.	.	.	.	T	0.61022	0.2314	.	.	.	0.47698	D	0.999492	.	.	.	.	.	.	T	0.65606	-0.6127	6	0.87932	D	0	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	S	35	ENSP00000244661:G35S	ENSP00000244661:G35S	G	-	1	0	HIST1H3B	26140165	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.599000	0.82757	2.577000	0.86979	0.561000	0.74099	GGC	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	protein_coding	OTTHUMT00000040077.1	C	NM_003537	-		26032186	-1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26032186	C	T	26032186	3	4	102	1	0	0	0	0	1	0	0	0	7158	652	23	1	311	1	HIST1H3B	6	26032186	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	26032186	145082881	249	6159	78	2									
OR11A1	26531	genome.wustl.edu	37	chr6	29395394	29395394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaaattcagtaatagtttCgtttcctgtggagacaattt	8	6	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:29395394C>T	ENST00000377149.1	-	5	497	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR11A1_ENST00000377148.1_Missense_Mutation_p.E9K|OR11A1_ENST00000377147.2_Missense_Mutation_p.E9K|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTAATAGTTTCGTTTCCTGTG	0.393																																																	0								ENSG00000204694						60	58	59					6																	29395394		1509	2709	4218	OR11A1	SO:0001583	missense	0			-	HGNC		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.25G>A	6.37:g.29395394C>T	ENSP00000366354:p.Glu9Lys	Somatic	0	25	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	0	100.00	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.E9K	ENST00000377149.1	37	c.25	CCDS34363.1	6	.	.	.	.	.	.	.	.	.	.	c	6.981	0.551005	0.13374	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00333	8.07;8.07;8.07	3.66	-0.976	0.10286	.	.	.	.	.	T	0.00039	0.0001	N	0.17248	0.465	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.04537	-1.0944	9	0.38643	T	0.18	0.5553	10.4396	0.44457	0.0:0.5807:0.2074:0.212	.	9	Q9GZK7	O11A1_HUMAN	K	9	ENSP00000366353:E9K;ENSP00000366354:E9K;ENSP00000366352:E9K	ENSP00000366352:E9K	E	-	1	0	OR11A1	29503373	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.993000	0.03720	-1.263000	0.02455	-2.938000	0.00087	GAA	-	NULL		0.393	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	protein_coding	OTTHUMT00000193778.1	C		-		29395394	-1	no_errors	ENST00000377147	ensembl	human	known	74_37	missense	SNP	0.001	T	T	29395394	C	T	29395394	3	4	102	1	0	0	0	0	1	0	0	0	10926	893	31	1	926	1	OR11A1	6	29395394	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3363208	29395394	141719673	250	6160											
MSH5	4439	genome.wustl.edu	37	chr6	31721192	31721192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcagatgctgcatcggctCctgggtcacatcaagaacgt	11	12	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:31721192C>T	ENST00000375755.3	+	11	1213	c.927C>T	c.(925-927)ctC>ctT	p.L309L	MSH5_ENST00000534153.4_Silent_p.L326L|MSH5_ENST00000375750.3_Silent_p.L309L|MSH5_ENST00000375703.3_Silent_p.L309L|MSH5_ENST00000375742.3_Silent_p.L326L|MSH5-SAPCD1_ENST00000493662.2_Silent_p.L326L|MSH5_ENST00000431848.2_Silent_p.L8L|MSH5_ENST00000375740.3_Silent_p.L326L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	309					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TGCATCGGCTCCTGGGTCACA	0.592								Direct reversal of damage;Mismatch excision repair (MMR)																																									0								ENSG00000204410						69	66	67					6																	31721192		2203	4300	6503	MSH5	SO:0001819	synonymous_variant	0			-	HGNC	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.927C>T	6.37:g.31721192C>T		Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.68	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.L326	ENST00000375755.3	37	c.978	CCDS4720.1	6																																																																																			-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.592	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	protein_coding	OTTHUMT00000076243.4	C		-		31721192	1	no_errors	ENST00000375742	ensembl	human	known	74_37	silent	SNP	0.009	T	T	31721192	C	T	31721192	2	4	102	1	0	0	0	0	0	0	0	1	9875	842	30	2		2	MSH5	6	31721192	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2325798	31721192	139393875	251	6161											
SKIV2L	6499	genome.wustl.edu	37	chr6	31931480	31931480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagacctttggggccaaGcagcccacacatcagggggg	14	14	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:31931480G>A	ENST00000375394.2	+	15	1730	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	SKIV2L_ENST00000544581.1_Silent_p.K346K	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	539					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTGGGGCCAAGCAGCCCACAC	0.567																																																	0								ENSG00000204351						40	40	40					6																	31931480		1511	2709	4220	SKIV2L	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1617G>A	6.37:g.31931480G>A		Somatic	0	19	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	O15005|Q12902|Q15476|Q5ST66	Silent	SNP							pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K539	ENST00000375394.2	37	c.1617	CCDS4731.1	6																																																																																			-	superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	protein_coding	OTTHUMT00000076264.3	G		-		31931480	1	no_errors	ENST00000375394	ensembl	human	known	74_37	silent	SNP	0.999	A	A	31931480	G	A	31931480	2	1	102	1	0	0	0	0	0	0	0	1	14367	962	34	2		2	SKIV2L	6	31931480	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	210288	31931480	139183587	252	6162											
RXRB	6257	genome.wustl.edu	37	chr6	33162790	33162790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatacactttctcccgcagGacctccacctcactagggtt	7	16	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:33162790G>A	ENST00000374680.3	-	9	1597	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000395194.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.V466V|COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000395197.1_5'Flank|RXRB_ENST00000544186.1_Silent_p.V276V|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	462	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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 transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCTCCCGCAGGACCTCCACCT	0.572																																																	0								ENSG00000204231						69	70	70					6																	33162790		1510	2708	4218	RXRB	SO:0001819	synonymous_variant	0			-	HGNC	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1386C>T	6.37:g.33162790G>A		Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.V462	ENST00000374680.3	37	c.1386	CCDS4768.1	6																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt		0.572	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	protein_coding	OTTHUMT00000076642.2	G	NM_021976	-		33162790	-1	no_errors	ENST00000374680	ensembl	human	known	74_37	silent	SNP	0.995	A	A	33162790	G	A	33162790	2	1	102	1	0	0	0	0	0	0	0	1	13772	1161	41	2		2	RXRB	6	33162790	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1231310	33162790	137952277	253	6163											
ZBTB22	9278	genome.wustl.edu	37	chr6	33284329	33284329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggaagttgacaatgtcaGcagcagccatgctgaggcgg	14	8	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:33284329G>A	ENST00000431845.2	-	2	516	c.365C>T	c.(364-366)gCt>gTt	p.A122V	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A122V|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	122					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GACAATGTCAGCAGCAGCCAT	0.572																																																	0								ENSG00000236104						100	102	101					6																	33284329		2203	4300	6503	ZBTB22	SO:0001583	missense	0			-	HGNC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.365C>T	6.37:g.33284329G>A	ENSP00000407545:p.Ala122Val	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A122V	ENST00000431845.2	37	c.365	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447758	0.43429	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.69040	-0.37;-0.37;-0.37	4.44	3.57	0.40892	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.33496	N	0.004852	T	0.34832	0.0911	L	0.41906	1.305	0.39386	D	0.966332	B	0.29909	0.261	B	0.26517	0.07	T	0.31971	-0.9924	10	0.44086	T	0.13	.	5.4049	0.16316	0.1028:0.0:0.6988:0.1984	.	122	O15209	ZBT22_HUMAN	V	122	ENSP00000404403:A122V;ENSP00000407545:A122V;ENSP00000413172:A122V	ENSP00000404403:A122V	A	-	2	0	ZBTB22	33392307	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	2.694000	0.47035	1.084000	0.41184	0.551000	0.68910	GCT	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.572	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	protein_coding	OTTHUMT00000076183.2	G		-		33284329	-1	no_errors	ENST00000418724	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33284329	G	A	33284329	3	1	102	1	0	0	0	0	1	0	0	0	17537	971	34	2	1543	2	ZBTB22	6	33284329	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	121539	33284329	137830738	254	6164											
DNAH8	1769	genome.wustl.edu	37	chr6	38862525	38862525	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcattacatcttcaatcttCgagatctttccagaatttgg	5	9	5	2	rs149070832	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:38862525C>T	ENST00000359357.3	+	57	8235	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2878*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2625*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2661	AAA 3. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTCAATCTTCGAGATCTTTC	0.393																																																	0								ENSG00000124721	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	81	78	79		8632	5.3	1	6	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	DNAH8	NM_001206927.1		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		2878/4708	38862525	3,13003	2203	4300	6503	DNAH8	SO:0001587	stop_gained	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7981C>T	6.37:g.38862525C>T	ENSP00000352312:p.Arg2661*	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R2661*	ENST00000359357.3	37	c.7981		6	.	.	.	.	.	.	.	.	.	.	C	51	17.689154	0.99891	2.27E-4	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9296	0.63986	0.152:0.848:0.0:0.0	.	.	.	.	X	2866;2866;2661;2625	.	ENSP00000333363:R2866X	R	+	1	2	DNAH8	38970503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.046000	0.49846	2.469000	0.83416	0.557000	0.71058	CGA	-	superfamily_P-loop_NTPase		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	C	NM_001206927	rs149070832		38862525	1	no_errors	ENST00000359357	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	38862525	C	T	38862525	4	4	102	1	0	0	0	0	0	1	0	0	4609	876	31	1	8199	1	DNAH8	6	38862525	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5578196	38862525	132252542	255	6165											
MED20	9477	genome.wustl.edu	37	chr6	41874815	41874815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagctgctcatcactaacGaatcccagccaccggcacct	8	17	2	0	rs144169919	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:41874815G>A	ENST00000265350.4	-	4	714	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	212					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATCACTAACGAATCCCAGCC	0.582																																																	0								ENSG00000124641	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	51	54		634	5.4	1	6	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MED20	NM_004275.3	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	212/213	41874815	3,13003	2203	4300	6503	MED20	SO:0001583	missense	0			-	HGNC	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.634C>T	6.37:g.41874815G>A	ENSP00000265350:p.Arg212Cys	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP							pfam_Mediator_Med20	p.R212C	ENST00000265350.4	37	c.634	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172939	0.78452	2.27E-4	2.33E-4	ENSG00000124641	ENST00000265350	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.68808	-0.5311	9	0.87932	D	0	-15.7335	11.8849	0.52596	0.0:0.0:0.718:0.282	.	212	Q9H944	MED20_HUMAN	C	212	.	ENSP00000265350:R212C	R	-	1	0	MED20	41982793	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.926000	0.56491	2.814000	0.96858	0.655000	0.94253	CGT	-	NULL		0.582	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	protein_coding	OTTHUMT00000040539.1	G	NM_004275	rs144169919		41874815	-1	no_errors	ENST00000265350	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41874815	G	A	41874815	3	1	102	1	0	0	0	0	1	0	0	0	9440	1058	37	1	8	1	MED20	6	41874815	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3012290	41874815	129240252	256	6166											
CUL7	9820	genome.wustl.edu	37	chr6	43010622	43010622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaaggctgcccgaggcCcaaacagttcagagcttgag	13	11	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:43010622C>T	ENST00000265348.3	-	19	3648	c.3563G>A	c.(3562-3564)gGg>gAg	p.G1188E	CUL7_ENST00000535468.1_Missense_Mutation_p.G1272E|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1188					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCCCGAGGCCCAAACAGTTC	0.527																																																	0								ENSG00000044090						49	46	47					6																	43010622		2203	4300	6503	CUL7	SO:0001583	missense	0			-	HGNC	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3563G>A	6.37:g.43010622C>T	ENSP00000265348:p.Gly1188Glu	Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP							pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G1272E	ENST00000265348.3	37	c.3815	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136071	0.77662	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.73363	-0.74;-0.74	5.59	4.73	0.59995	Cullin, N-terminal (1);	0.368860	0.30193	N	0.010192	T	0.80894	0.4711	M	0.68593	2.085	0.80722	D	1	D;P;D;D	0.89917	0.972;0.894;1.0;1.0	P;P;D;D	0.97110	0.736;0.613;1.0;1.0	D	0.83877	0.0277	10	0.72032	D	0.01	-16.8945	14.4489	0.67372	0.0:0.9292:0.0:0.0708	.	1272;1188;1272;1188	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	E	1188;1272	ENSP00000265348:G1188E;ENSP00000438788:G1272E	ENSP00000265348:G1188E	G	-	2	0	CUL7	43118600	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.362000	0.79507	1.371000	0.46172	-0.245000	0.11935	GGG	-	pfam_Cullin_N		0.527	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	protein_coding	OTTHUMT00000040575.1	C	NM_014780	-		43010622	-1	no_errors	ENST00000535468	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43010622	C	T	43010622	3	4	102	1	0	0	0	0	1	0	0	0	4062	623	22	2	1565	2	CUL7	6	43010622	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1135807	43010622	128104445	257	6167											
PTK7	5754	genome.wustl.edu	37	chr6	43113069	43113069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggacttccggagggagTtggagatgtttgggaagctg	18	5	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:43113069T>C	ENST00000230419.4	+	16	2760	c.2539T>C	c.(2539-2541)Ttg>Ctg	p.L847L	PTK7_ENST00000345201.2_Silent_p.L807L|PTK7_ENST00000481273.1_Silent_p.L855L|PTK7_ENST00000349241.2_Silent_p.L717L|PTK7_ENST00000352931.2_Silent_p.L791L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	847	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGAGGGAGTTGGAGATGTT	0.597																																																	0								ENSG00000112655						86	79	81					6																	43113069		2203	4300	6503	PTK7	SO:0001819	synonymous_variant	0			-	HGNC	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2539T>C	6.37:g.43113069T>C		Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP							pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L847	ENST00000230419.4	37	c.2539	CCDS4884.1	6																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	protein_coding	OTTHUMT00000040580.2	T		-		43113069	1	no_errors	ENST00000230419	ensembl	human	known	74_37	silent	SNP	0.930	C	C	43113069	T	C	43113069	2	2	102	1	0	0	0	0	0	0	0	1	12771	1722	60	5		5	PTK7	6	43113069	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	102447	43113069	128001998	258	6168											
TCTE1	202500	genome.wustl.edu	37	chr6	44253992	44253992	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaccctgcgcacgtaattCcggcagagcggcagcaggtc	14	13	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:44253992C>T	ENST00000371505.4	-	3	677	c.555G>A	c.(553-555)cgG>cgA	p.R185R	TCTE1_ENST00000371503.3_Silent_p.R32R|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.R32R	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	185										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCACGTAATTCCGGCAGAGCG	0.647																																																	0								ENSG00000146221						41	38	39					6																	44253992		2202	4300	6502	TCTE1	SO:0001819	synonymous_variant	0			-	HGNC	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.555G>A	6.37:g.44253992C>T		Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85	B4DX59|Q8IYS6	Silent	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R185	ENST00000371505.4	37	c.555	CCDS4910.1	6																																																																																			-	NULL		0.647	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	protein_coding	OTTHUMT00000040736.1	C	NM_182539	-		44253992	-1	no_errors	ENST00000371505	ensembl	human	known	74_37	silent	SNP	0.030	T	T	44253992	C	T	44253992	2	4	102	1	0	0	0	0	0	0	0	1	15724	842	30	2		2	TCTE1	6	44253992	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1140923	44253992	126861075	259	6169											
GPR116	221395	genome.wustl.edu	37	chr6	46826828	46826828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttaaaagtcattgaaaTcctgaatggcatagttgtat	8	5	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:46826828T>C	ENST00000283296.7	-	17	3100	c.2812A>G	c.(2812-2814)Att>Gtt	p.I938V	GPR116_ENST00000456426.2_Missense_Mutation_p.I796V|GPR116_ENST00000362015.4_Missense_Mutation_p.I938V|GPR116_ENST00000545669.1_Missense_Mutation_p.I367V|GPR116_ENST00000265417.7_Missense_Mutation_p.I938V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	938					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTCATTGAAATCCTGAATGGC	0.478																																					NSCLC(59;410 1274 8751 36715 50546)												0								ENSG00000069122						120	109	113					6																	46826828		2203	4300	6503	GPR116	SO:0001583	missense	0			-	HGNC	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2812A>G	6.37:g.46826828T>C	ENSP00000283296:p.Ile938Val	Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	12	55.56	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.I938V	ENST00000283296.7	37	c.2812	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896026	0.33442	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000012	T	0.34890	0.0913	L	0.49126	1.545	0.23376	N	0.997807	P;P;P;P;P	0.49358	0.923;0.772;0.849;0.711;0.849	P;B;B;P;B	0.51297	0.47;0.412;0.316;0.665;0.316	T	0.18650	-1.0330	10	0.33141	T	0.24	-23.2718	9.7574	0.40510	0.0:0.0771:0.0:0.9229	.	367;493;938;796;938	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	V	938;938;938;796;309;938;367	ENSP00000283296:I938V;ENSP00000354563:I938V;ENSP00000412866:I796V;ENSP00000265417:I938V;ENSP00000441581:I367V	ENSP00000265417:I938V	I	-	1	0	GPR116	46934787	0.971000	0.33674	0.319000	0.25293	0.753000	0.42808	1.756000	0.38390	2.010000	0.58986	0.454000	0.30748	ATT	-	NULL		0.478	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	T	NM_015234	-		46826828	-1	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	SNP	0.389	C	C	46826828	T	C	46826828	3	2	102	1	0	0	0	0	1	0	0	0	6635	1435	50	5	1248	5	GPR116	6	46826828	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	2572836	46826828	124288239	260	6170											
GPR115	221393	genome.wustl.edu	37	chr6	47682551	47682551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctttgccattggctatGggtgcccattgatcattgct	11	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:47682551G>A	ENST00000283303.2	+	6	1828	c.1570G>A	c.(1570-1572)Ggg>Agg	p.G524R	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.G581R|GPR115_ENST00000327753.3_Missense_Mutation_p.G524R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	524					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						CATTGGCTATGGGTGCCCATT	0.453																																					GBM(22;431 510 9010 26644 32828)												0								ENSG00000153294						185	175	178					6																	47682551		2203	4300	6503	GPR115	SO:0001583	missense	0			-	HGNC	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.1570G>A	6.37:g.47682551G>A	ENSP00000283303:p.Gly524Arg	Somatic	0	92	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.G581R	ENST00000283303.2	37	c.1741	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607538	0.87157	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.65178	-0.14;-0.14;-0.14	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.077233	0.56097	D	0.000032	D	0.82912	0.5140	M	0.93150	3.385	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.87205	0.2243	10	0.87932	D	0	-10.4959	18.158	0.89700	0.0:0.0:1.0:0.0	.	524	Q8IZF3	GP115_HUMAN	R	581;524;524	ENSP00000360264:G581R;ENSP00000328319:G524R;ENSP00000283303:G524R	ENSP00000283303:G524R	G	+	1	0	GPR115	47790510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.833000	0.86765	2.593000	0.87608	0.655000	0.94253	GGG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	G	NM_153838	-		47682551	1	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47682551	G	A	47682551	3	1	102	1	0	0	0	0	1	0	0	0	6634	1348	47	2	1588	2	GPR115	6	47682551	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	855723	47682551	123432516	261	6171											
FBXO9	26268	genome.wustl.edu	37	chr6	52957542	52957542	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttcataggcgtgtatatCagtaaaaccacatatattcg	6	7	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:52957542C>T	ENST00000244426.6	+	8	985	c.813C>T	c.(811-813)atC>atT	p.I271I	FBXO9_ENST00000370939.3_Silent_p.I227I|FBXO9_ENST00000323557.7_Silent_p.I261I|RN7SL244P_ENST00000493405.2_RNA	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	271					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GCGTGTATATCAGTAAAACCA	0.328																																																	0								ENSG00000112146						65	57	60					6																	52957542		1804	4070	5874	FBXO9	SO:0001819	synonymous_variant	0			-	HGNC	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.813C>T	6.37:g.52957542C>T		Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Silent	SNP							pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.I271	ENST00000244426.6	37	c.813	CCDS55023.1	6																																																																																			-	superfamily_F-box_dom		0.328	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	protein_coding	OTTHUMT00000040950.3	C		-		52957542	1	no_errors	ENST00000244426	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52957542	C	T	52957542	2	4	102	1	0	0	0	0	0	0	0	1	5764	816	29	2		2	FBXO9	6	52957542	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5274991	52957542	118157525	262	6172											
EYS	346007	genome.wustl.edu	37	chr6	65301274	65301274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatataattaccttagcagGaaaaatgggagacatcgagg	11	5	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:65301274G>A	ENST00000370621.3	-	26	5012	c.4486C>T	c.(4486-4488)Cct>Tct	p.P1496S	EYS_ENST00000503581.1_Missense_Mutation_p.P1496S|EYS_ENST00000370616.2_Missense_Mutation_p.P1496S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1496					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACCTTAGCAGGAAAAATGGGA	0.418																																																	0								ENSG00000188107						35	32	33					6																	65301274		692	1590	2282	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4486C>T	6.37:g.65301274G>A	ENSP00000359655:p.Pro1496Ser	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.00	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1496S	ENST00000370621.3	37	c.4486		6	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331666	0.60853	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84589	-1.87;-1.83;-1.83	5.84	4.96	0.65561	.	.	.	.	.	T	0.78457	0.4286	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63877	0.919;0.831	D	0.85171	0.0998	9	0.62326	D	0.03	.	14.8349	0.70175	0.0:0.1436:0.8564:0.0	.	1496;1496	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	S	1496	ENSP00000424243:P1496S;ENSP00000359655:P1496S;ENSP00000359650:P1496S	ENSP00000359650:P1496S	P	-	1	0	EYS	65357995	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	2.044000	0.41241	1.448000	0.47680	0.591000	0.81541	CCT	-	NULL		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	G	XM_294050	-		65301274	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.994	A	A	65301274	G	A	65301274	3	1	102	1	0	0	0	0	1	0	0	0	5334	1174	41	2	4865	2	EYS	6	65301274	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12343732	65301274	105813793	263	6173											
SNX14	57231	genome.wustl.edu	37	chr6	86251718	86251718	+	Frame_Shift_Del	DEL	T	T	-													cctacctgttcaattttgaaTtgcgtgttggtgattctgca							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:86251718delT	ENST00000314673.3	-	15	1609	c.1433delA	c.(1432-1434)aatfs	p.N478fs	SNX14_ENST00000513865.1_Intron|SNX14_ENST00000505648.1_Frame_Shift_Del_p.N426fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Del_p.N434fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.N478fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	478					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAATTTTGAATTGCGTGTTGG	0.279																																																	0								ENSG00000135317						103	91	95					6																	86251718		2203	4298	6501	SNX14	SO:0001589	frameshift_variant	0				HGNC	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1433delA	6.37:g.86251718delT	ENSP00000313121:p.Asn478fs	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL							pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.N478fs	ENST00000314673.3	37	c.1433	CCDS5004.1	6																																																																																			-	NULL		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	protein_coding	OTTHUMT00000041393.2	T	NM_153816			86251718	-1	no_errors	ENST00000314673	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	86251718	T	-	86251718	7	5	102	1	0	1	0	1	0	0	0	0	14893	1493	52	0	1467	0	SNX14	6	86251718	Frame_Shift_Del	DEL	T	TCGA-DX-A8BP-01A-11D-A37C-09	20950444	86251718	84863349	264	6174											
MANEA	79694	genome.wustl.edu	37	chr6	96054071	96054071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgcacttcagacacgCcccagcttaatttctatcac	6	15	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:96054071C>T	ENST00000358812.4	+	5	1313	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	393	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TTCAGACACGCCCCAGCTTAA	0.428																																																	0								ENSG00000172469						70	74	72					6																	96054071		2203	4300	6503	MANEA	SO:0001819	synonymous_variant	0			-	HGNC	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1179C>T	6.37:g.96054071C>T		Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	8	46.67	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP							superfamily_Glycoside_hydrolase_SF	p.R393	ENST00000358812.4	37	c.1179	CCDS5032.1	6																																																																																			-	NULL		0.428	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	protein_coding	OTTHUMT00000043644.1	C	NM_024641	-		96054071	1	no_errors	ENST00000358812	ensembl	human	known	74_37	silent	SNP	0.000	T	T	96054071	C	T	96054071	2	4	102	1	0	0	0	0	0	0	0	1	9223	726	26	2		2	MANEA	6	96054071	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9802353	96054071	75060996	265	6175											
PKIB	5570	genome.wustl.edu	37	chr6	123039007	123039007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattttgcatcttcagcaaGggcaggccgccggaatgcct	11	12	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:123039007G>A	ENST00000368448.1	+	5	695	c.68G>A	c.(67-69)aGg>aAg	p.R23K	PKIB_ENST00000392491.2_Missense_Mutation_p.R23K|PKIB_ENST00000368446.1_Missense_Mutation_p.R32K|PKIB_ENST00000258014.3_Missense_Mutation_p.R30K|PKIB_ENST00000392490.1_Missense_Mutation_p.R23K|PKIB_ENST00000354275.2_Missense_Mutation_p.R23K|PKIB_ENST00000368452.2_Missense_Mutation_p.R23K			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	23		Important for inhibition. {ECO:0000250}.					cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TCTTCAGCAAGGGCAGGCCGC	0.498																																																	0								ENSG00000135549						115	109	111					6																	123039007		2203	4300	6503	PKIB	SO:0001583	missense	0			-	HGNC		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.68G>A	6.37:g.123039007G>A	ENSP00000357433:p.Arg23Lys	Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	B2RCK2|Q567T9|Q5T0Z7	Missense_Mutation	SNP							pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.R30K	ENST00000368448.1	37	c.89	CCDS5126.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.506863	0.96386	.	.	ENSG00000135549	ENST00000392491;ENST00000368452;ENST00000368448;ENST00000392490;ENST00000258014;ENST00000354275;ENST00000368446	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.81475	0.4830	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82790	-0.0283	8	0.87932	D	0	-19.6588	19.4279	0.94751	0.0:0.0:1.0:0.0	.	30;23	Q5T0Z7;Q9C010	.;IPKB_HUMAN	K	23;23;23;23;30;23;32	.	ENSP00000258014:R30K	R	+	2	0	PKIB	123080706	1.000000	0.71417	0.622000	0.29159	0.902000	0.53008	7.567000	0.82357	2.824000	0.97209	0.655000	0.94253	AGG	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI		0.498	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIB	protein_coding	OTTHUMT00000042035.1	G		-		123039007	1	no_errors	ENST00000258014	ensembl	human	known	74_37	missense	SNP	0.993	A	A	123039007	G	A	123039007	3	1	102	1	0	0	0	0	1	0	0	0	11976	1000	35	2	70	2	PKIB	6	123039007	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	26984936	123039007	48076060	266	6176											
TAAR2	9287	genome.wustl.edu	37	chr6	132938844	132938844	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgctccagggaccgaccaAcatagaagtagcaatctttt	8	10	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:132938844A>G	ENST00000367931.1	-	2	500	c.501T>C	c.(499-501)tgT>tgC	p.C167C	TAAR2_ENST00000275191.2_Silent_p.C122C|TAAR2_ENST00000537809.1_Silent_p.C122C			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GGACCGACCAACATAGAAGTA	0.423																																																	0								ENSG00000146378						60	60	60					6																	132938844		2203	4300	6503	TAAR2	SO:0001819	synonymous_variant	0			-	HGNC	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.501T>C	6.37:g.132938844A>G		Somatic	0	17	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.C167	ENST00000367931.1	37	c.501	CCDS34541.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	protein_coding	OTTHUMT00000390735.1	A	NM_014626	-		132938844	-1	no_errors	ENST00000367931	ensembl	human	known	74_37	silent	SNP	0.999	G	G	132938844	A	G	132938844	2	3	102	1	0	0	0	0	0	0	0	1	15497	41	2	5		5	TAAR2	6	132938844	Silent	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	9899837	132938844	38176223	267	6177											
ALDH8A1	64577	genome.wustl.edu	37	chr6	135239621	135239621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttggctccctctctacCtattccagaactcttcatcc	4	17	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:135239621C>T	ENST00000265605.2	-	7	1464	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G412S|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G416S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	466					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCCTCTCTACCTATTCCAGAA	0.512																																																	0								ENSG00000118514						114	107	109					6																	135239621		2203	4300	6503	ALDH8A1	SO:0001583	missense	0			-	HGNC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1396G>A	6.37:g.135239621C>T	ENSP00000265605:p.Gly466Ser	Somatic	0	73	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.G466S	ENST00000265605.2	37	c.1396	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.727197	0.96847	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;T;D	0.87179	-2.22;0.57;-2.22	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	M	0.91768	3.24	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	0.94976	0.8121	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	416;412;466	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	S	466;412;416	ENSP00000265605:G466S;ENSP00000356819:G412S;ENSP00000356821:G416S	ENSP00000265605:G466S	G	-	1	0	ALDH8A1	135281314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.710000	0.84655	2.884000	0.98904	0.655000	0.94253	GGT	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.512	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	protein_coding	OTTHUMT00000042334.2	C		-		135239621	-1	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135239621	C	T	135239621	3	4	102	1	0	0	0	0	1	0	0	0	505	681	24	2	71	2	ALDH8A1	6	135239621	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2300777	135239621	35875446	268	6178											
MAP3K5	4217	genome.wustl.edu	37	chr6	136963669	136963669	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaacttacctcactcccctGacagaagaggcactaaaatt	6	12	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:136963669G>T	ENST00000359015.4	-	12	2187	c.1827C>A	c.(1825-1827)gtC>gtA	p.V609V	MAP3K5_ENST00000355845.4_5'UTR|RP3-325F22.3_ENST00000432477.1_RNA	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	609					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCACTCCCCTGACAGAAGAGG	0.328																																																	0								ENSG00000197442						147	156	153					6																	136963669		2203	4300	6503	MAP3K5	SO:0001819	synonymous_variant	0			-	HGNC	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1827C>A	6.37:g.136963669G>T		Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V609	ENST00000359015.4	37	c.1827	CCDS5179.1	6																																																																																			-	NULL		0.328	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	G		-		136963669	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	SNP	0.998	T	T	136963669	G	T	136963669	2	4	102	1	0	0	0	0	0	0	0	1	9255	1277	45	3		3	MAP3K5	6	136963669	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1724048	136963669	34151398	269	6179											
SYNE1	23345	genome.wustl.edu	37	chr6	152555900	152555900	+	Frame_Shift_Del	DEL	A	A	-													gccggtcttttgcagattgtAaccagtgaattagatctgca							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:152555900delA	ENST00000367255.5	-	111	21033	c.20432delT	c.(20431-20433)ttafs	p.L6811fs	SYNE1_ENST00000423061.1_Frame_Shift_Del_p.L6740fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.L6423fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.L1335fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.L6740fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.L6811fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6811					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)		TGCAGATTGTAACCAGTGAAT	0.393										HNSCC(10;0.0054)																																							0								ENSG00000131018						99	94	96					6																	152555900		2203	4300	6503	SYNE1	SO:0001589	frameshift_variant	0				HGNC	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.20432delT	6.37:g.152555900delA	ENSP00000356224:p.Leu6811fs	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6811fs	ENST00000367255.5	37	c.20432	CCDS5236.2	6																																																																																			-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	A	NM_182961			152555900	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	152555900	A	-	152555900	7	5	102	1	0	1	0	1	0	0	0	0	15452	372	13	0	6178	0	SYNE1	6	152555900	Frame_Shift_Del	DEL	A	TCGA-DX-A8BP-01A-11D-A37C-09	15592231	152555900	18559167	270	6180											
SYNJ2	8871	genome.wustl.edu	37	chr6	158485872	158485872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaggtggggaagctgaaGgatggagcccggtccatgtc	18	9	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:158485872G>A	ENST00000355585.4	+	11	1449	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	SYNJ2_ENST00000367122.2_Silent_p.K458K|SYNJ2_ENST00000449859.2_Silent_p.K386K|SYNJ2_ENST00000367121.3_Silent_p.K458K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	458					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAAGCTGAAGGATGGAGCCC	0.682																																																	0								ENSG00000078269						42	44	43					6																	158485872		2203	4300	6503	SYNJ2	SO:0001819	synonymous_variant	0			-	HGNC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1374G>A	6.37:g.158485872G>A		Somatic	0	161	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP							pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.K458	ENST00000355585.4	37	c.1374	CCDS5254.1	6																																																																																			-	NULL		0.682	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	protein_coding	OTTHUMT00000042858.2	G		-		158485872	1	no_errors	ENST00000355585	ensembl	human	known	74_37	silent	SNP	1.000	A	A	158485872	G	A	158485872	2	1	102	1	0	0	0	0	0	0	0	1	15460	991	35	2		2	SYNJ2	6	158485872	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5929972	158485872	12629195	271	6181											
SLC22A2	6582	genome.wustl.edu	37	chr6	160668278	160668278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttaatgattctcatggCttcagcattcttattctggg	9	8	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:160668278C>T	ENST00000366953.3	-	5	1153	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	SLC22A2_ENST00000366952.1_Missense_Mutation_p.A278T|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	299					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ATTCTCATGGCTTCAGCATTC	0.493																																																	0								ENSG00000112499						145	130	135					6																	160668278		2203	4300	6503	SLC22A2	SO:0001583	missense	0			-	HGNC	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.895G>A	6.37:g.160668278C>T	ENSP00000355920:p.Ala299Thr	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A299T	ENST00000366953.3	37	c.895	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644766	0.87859	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	D;D	0.83250	-1.7;-1.7	5.2	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173687	0.50627	N	0.000102	D	0.90707	0.7084	M	0.90870	3.155	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.73708	0.98;0.981	D	0.92390	0.5920	10	0.59425	D	0.04	.	14.0469	0.64710	0.0:0.9267:0.0:0.0733	.	299;299	O15244;O15244-2	S22A2_HUMAN;.	T	299;278	ENSP00000355920:A299T;ENSP00000355919:A278T	ENSP00000355919:A278T	A	-	1	0	SLC22A2	160588268	1.000000	0.71417	0.199000	0.23439	0.609000	0.37215	7.216000	0.77974	1.325000	0.45301	0.655000	0.94253	GCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.493	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	protein_coding	OTTHUMT00000042943.1	C	NM_003058	-		160668278	-1	no_errors	ENST00000366953	ensembl	human	known	74_37	missense	SNP	0.965	T	T	160668278	C	T	160668278	3	4	102	1	0	0	0	0	1	0	0	0	14458	797	28	2	800	2	SLC22A2	6	160668278	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2182406	160668278	10446789	272	6182											
MICALL2	79778	genome.wustl.edu	37	chr7	1484937	1484937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcccctggctgtcgggGgaccagacccgtcaacttgg	14	14	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:1484937G>A	ENST00000297508.7	-	6	944	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	MICALL2_ENST00000405088.4_Missense_Mutation_p.P45S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	257	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGCTGTCGGGGGACCAGACCC	0.682																																																	0								ENSG00000164877						18	19	18					7																	1484937		2175	4268	6443	MICALL2	SO:0001583	missense	0			-	HGNC	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.769C>T	7.37:g.1484937G>A	ENSP00000297508:p.Pro257Ser	Somatic	1	265	0.38		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	134	16.67	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P257S	ENST00000297508.7	37	c.769	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	7.747	0.702536	0.15172	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69435	2.95;-0.4	4.12	-2.71	0.05986	.	1.160740	0.06768	N	0.783039	T	0.36908	0.0984	N	0.11201	0.11	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.30995	-0.9959	10	0.02654	T	1	.	4.7128	0.12880	0.4676:0.3112:0.2212:0.0	.	257	Q8IY33	MILK2_HUMAN	S	45;257	ENSP00000385928:P45S;ENSP00000297508:P257S	ENSP00000297508:P257S	P	-	1	0	MICALL2	1451463	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.297000	0.08276	-0.510000	0.06523	-0.315000	0.08773	CCC	-	NULL		0.682	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	protein_coding	OTTHUMT00000239223.2	G	NM_182924	-		1484937	-1	no_errors	ENST00000297508	ensembl	human	known	74_37	missense	SNP	0.000	A	A	1484937	G	A	1484937	3	1	102	1	0	0	0	0	1	0	0	0	9576	1232	43	2	1993	2	MICALL2	7	1484937	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		1484937	157653726	273	6183											
ACTB	60	genome.wustl.edu	37	chr7	5567440	5567440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catactcctgcttgctgatcCacatctgctggaaggtggac	10	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:5567440C>A	ENST00000331789.5	-	6	1258	c.1067G>T	c.(1066-1068)tGg>tTg	p.W356L	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	356					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTTGCTGATCCACATCTGCTG	0.572																																																	0								ENSG00000075624						102	105	104					7																	5567440		2203	4298	6501	ACTB	SO:0001583	missense	0			-	HGNC	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1067G>T	7.37:g.5567440C>A	ENSP00000349960:p.Trp356Leu	Somatic	0	147	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	60	46.96	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.W356L	ENST00000331789.5	37	c.1067	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825541	0.71143	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95342	-3.68	5.55	5.55	0.83447	Actin, conserved site (1);	0.000000	0.56097	D	0.000030	D	0.98560	0.9519	H	0.98664	4.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99655	1.0992	10	0.87932	D	0	.	18.5519	0.91068	0.0:1.0:0.0:0.0	.	356	P60709	ACTB_HUMAN	L	356;332;328;275	ENSP00000349960:W356L	ENSP00000440549:W275L	W	-	2	0	ACTB	5533966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.533000	0.81994	2.617000	0.88574	0.650000	0.86243	TGG	-	pfam_Actin-related,smart_Actin-related		0.572	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	protein_coding	OTTHUMT00000059589.4	C	NM_001101	-		5567440	-1	no_errors	ENST00000331789	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5567440	C	A	5567440	3	1	102	1	0	0	0	0	1	0	0	0	193	595	21	3	64	3	ACTB	7	5567440	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4082503	5567440	153571223	274	6184											
EIF2AK1	27102	genome.wustl.edu	37	chr7	6068553	6068553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaccaaaaacttactcttCccgtttctgttggtccagtc	5	12	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:6068553C>T	ENST00000199389.6	-	12	1589	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	EIF2AK1_ENST00000536084.1_Silent_p.G357G|ANKRD61_ENST00000409061.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACTTACTCTTCCCGTTTCTGT	0.368																																																	0								ENSG00000086232						85	82	83					7																	6068553		2203	4300	6503	EIF2AK1	SO:0001819	synonymous_variant	0			-	HGNC	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1443G>A	7.37:g.6068553C>T		Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G481	ENST00000199389.6	37	c.1443	CCDS5345.1	7																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	protein_coding	OTTHUMT00000207373.2	C	NM_014413	-		6068553	-1	no_errors	ENST00000199389	ensembl	human	known	74_37	silent	SNP	0.974	T	T	6068553	C	T	6068553	2	4	102	1	0	0	0	0	0	0	0	1	4998	842	30	2		2	EIF2AK1	7	6068553	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	501113	6068553	153070110	275	6185											
RAC1	5879	genome.wustl.edu	37	chr7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttacacaaccaatgcatttCctggagaatatatccctact	5	11	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	CAATGCATTTCCTGGAGAATA	0.353																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000136238						112	111	111					7																	6426892		2203	4297	6500	RAC1	SO:0001583	missense	0			-	HGNC	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.85C>T	7.37:g.6426892C>T	ENSP00000258737:p.Pro29Ser	Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	30.16	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P29S	ENST00000348035.4	37	c.85	CCDS5348.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.345194	0.95807	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.76186	-1.0;-1.0	6.05	6.05	0.98169	Small GTP-binding protein domain (1);	0.049770	0.85682	D	0.000000	D	0.83069	0.5174	L	0.56340	1.77	0.80722	D	1	P;P	0.50528	0.811;0.936	P;P	0.58820	0.763;0.846	T	0.83092	-0.0132	10	0.87932	D	0	.	20.2117	0.98287	0.0:1.0:0.0:0.0	.	29;29	P63000;A4D2P0	RAC1_HUMAN;.	S	29	ENSP00000258737:P29S;ENSP00000348461:P29S	ENSP00000258737:P29S	P	+	1	0	RAC1	6393417	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.622000	0.83099	2.878000	0.98634	0.650000	0.86243	CCT	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.353	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	protein_coding	OTTHUMT00000242868.2	C	NM_018890	-		6426892	1	no_errors	ENST00000356142	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6426892	C	T	6426892	3	4	102	1	0	0	0	0	1	0	0	0	12982	855	30	2	91	2	RAC1	7	6426892	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	358339	6426892	152711771	276	6186											
THSD7A	221981	genome.wustl.edu	37	chr7	11676215	11676215	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatcttgctggcaaggaatGaggcaagcctgctccaggag	13	10	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:11676215G>A	ENST00000423059.4	-	2	815	c.564C>T	c.(562-564)ctC>ctT	p.L188L	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	188					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCAAGGAATGAGGCAAGCCT	0.552										HNSCC(18;0.044)																																							0								ENSG00000005108						72	70	70					7																	11676215		1999	4185	6184	THSD7A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.564C>T	7.37:g.11676215G>A		Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74		Silent	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L188	ENST00000423059.4	37	c.564	CCDS47543.1	7																																																																																			-	NULL		0.552	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2	-		11676215	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	SNP	1.000	A	A	11676215	G	A	11676215	2	1	102	1	0	0	0	0	0	0	0	1	15886	1277	45	2		2	THSD7A	7	11676215	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5249323	11676215	147462448	277	6187											
ABCB5	340273	genome.wustl.edu	37	chr7	20785035	20785035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaaatgcagcaaatatcCattcttttattgaaggtctc	6	10	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:20785035C>T	ENST00000404938.2	+	26	4055	c.3403C>T	c.(3403-3405)Cat>Tat	p.H1135Y	ABCB5_ENST00000258738.6_Missense_Mutation_p.H690Y	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1135	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCAAATATCCATTCTTTTAT	0.433																																																	0								ENSG00000004846						67	61	63					7																	20785035		2203	4300	6503	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3403C>T	7.37:g.20785035C>T	ENSP00000384881:p.His1135Tyr	Somatic	0	79	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.H690Y	ENST00000404938.2	37	c.2068	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454863	0.84209	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.93547	-3.24;-3.24	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000018	D	0.93661	0.7975	L	0.28740	0.885	0.58432	D	0.999999	D;P	0.60575	0.988;0.931	P;P	0.61722	0.893;0.768	D	0.93702	0.7016	10	0.45353	T	0.12	.	17.5992	0.88021	0.0:1.0:0.0:0.0	.	1135;690	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Y	1135;690	ENSP00000384881:H1135Y;ENSP00000258738:H690Y	ENSP00000258738:H690Y	H	+	1	0	ABCB5	20751560	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.670000	0.83925	2.502000	0.84385	0.655000	0.94253	CAT	-	pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	C	NM_178559	-		20785035	1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20785035	C	T	20785035	3	4	102	1	0	0	0	0	1	0	0	0	44	594	21	2	3542	2	ABCB5	7	20785035	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9108820	20785035	138353628	278	6188											
RAPGEF5	9771	genome.wustl.edu	37	chr7	22196499	22196499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgaattggtggaaaaggGctttattctgtgagatggga	15	3	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:22196499G>T	ENST00000401957.2	-	6	903	c.656C>A	c.(655-657)gCc>gAc	p.A219D	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A369D			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	219					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGAAAAGGGCTTTATTCTG	0.423																																																	0								ENSG00000136237						104	106	105					7																	22196499		1876	4110	5986	RAPGEF5	SO:0001583	missense	0			-	HGNC	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.656C>A	7.37:g.22196499G>T	ENSP00000384044:p.Ala219Asp	Somatic	0	92	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	A4D140|Q8IXU5	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A369D	ENST00000401957.2	37	c.1106		7	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971315	0.53614	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.28666	1.6;1.6;1.6	5.76	4.87	0.63330	Ras guanine nucleotide exchange factor, domain (1);	0.155416	0.56097	D	0.000026	T	0.31389	0.0795	L	0.46157	1.445	0.58432	D	0.999994	B;P	0.39576	0.005;0.679	B;B	0.40444	0.005;0.329	T	0.03840	-1.0999	10	0.35671	T	0.21	.	15.0834	0.72133	0.0689:0.0:0.9311:0.0	.	219;369	Q92565;A8MQ07	RPGF5_HUMAN;.	D	369;219;219;219;107	ENSP00000343656:A369D;ENSP00000384044:A219D;ENSP00000415664:A107D	ENSP00000258735:A219D	A	-	2	0	RAPGEF5	22163024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.589000	0.74080	1.407000	0.46875	0.544000	0.68410	GCC	-	superfamily_Ras_GEF_dom		0.423	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	protein_coding	OTTHUMT00000326590.2	G	NM_012294	-		22196499	-1	no_errors	ENST00000344041	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22196499	G	T	22196499	3	4	102	1	0	0	0	0	1	0	0	0	13055	1203	42	3	1130	3	RAPGEF5	7	22196499	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1411464	22196499	136942164	279	6189											
TBX20	57057	genome.wustl.edu	37	chr7	35242097	35242097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtccttgaatggcagcaTagggcccctgctgaaaatag	12	9	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:35242097T>C	ENST00000408931.3	-	8	1815	c.1289A>G	c.(1288-1290)tAt>tGt	p.Y430C		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	430					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AATGGCAGCATAGGGCCCCTG	0.517																																																	0								ENSG00000164532						31	30	30					7																	35242097		1923	4126	6049	TBX20	SO:0001583	missense	0			-	HGNC	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1289A>G	7.37:g.35242097T>C	ENSP00000386170:p.Tyr430Cys	Somatic	0	90	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Y430C	ENST00000408931.3	37	c.1289	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122746	0.77436	.	.	ENSG00000164532	ENST00000408931	D	0.90676	-2.71	5.66	5.66	0.87406	.	0.273372	0.37577	N	0.002022	D	0.91955	0.7452	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.92881	0.6323	10	0.56958	D	0.05	.	15.8876	0.79264	0.0:0.0:0.0:1.0	.	430	Q9UMR3	TBX20_HUMAN	C	430	ENSP00000386170:Y430C	ENSP00000386170:Y430C	Y	-	2	0	TBX20	35208622	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	7.698000	0.84413	2.144000	0.66660	0.496000	0.49642	TAT	-	NULL		0.517	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	protein_coding	OTTHUMT00000216870.2	T	NM_020417	-		35242097	-1	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	SNP	1.000	C	C	35242097	T	C	35242097	3	2	102	1	0	0	0	0	1	0	0	0	15663	1406	49	5	57	5	TBX20	7	35242097	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	13045598	35242097	123896566	280	6190											
PKD1L1	168507	genome.wustl.edu	37	chr7	47835734	47835734	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttttttggggtaaagtcatGagaaaacctctcagctagga	10	7	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:47835734G>C	ENST00000289672.2	-	55	8258	c.8208C>G	c.(8206-8208)ctC>ctG	p.L2736L	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2736					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAAAGTCATGAGAAAACCTC	0.333																																																	0								ENSG00000158683						50	53	52					7																	47835734		2203	4298	6501	PKD1L1	SO:0001819	synonymous_variant	0			-	HGNC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8208C>G	7.37:g.47835734G>C		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q6UWK1	Silent	SNP							pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.L2736	ENST00000289672.2	37	c.8208	CCDS34633.1	7																																																																																			-	NULL		0.333	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	protein_coding	OTTHUMT00000340974.1	G	NM_138295	-		47835734	-1	no_errors	ENST00000289672	ensembl	human	known	74_37	silent	SNP	0.015	C	C	47835734	G	C	47835734	2	2	102	1	0	0	0	0	0	0	0	1	11966	1277	45	4		4	PKD1L1	7	47835734	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12593637	47835734	111302929	281	6191											
GRB10	2887	genome.wustl.edu	37	chr7	50671731	50671731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtttaatgatcctgtggGattcctccctggagatcctc	10	11	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:50671731G>A	ENST00000401949.1	-	17	1977	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	GRB10_ENST00000402497.1_Missense_Mutation_p.S445F|GRB10_ENST00000357271.5_Missense_Mutation_p.S457F|GRB10_ENST00000403097.1_Missense_Mutation_p.S497F|GRB10_ENST00000402578.1_Missense_Mutation_p.S445F|GRB10_ENST00000398812.2_Missense_Mutation_p.S503F|GRB10_ENST00000335866.3_Missense_Mutation_p.S445F|GRB10_ENST00000439599.1_Missense_Mutation_p.S497F|GRB10_ENST00000407526.1_Missense_Mutation_p.S445F|GRB10_ENST00000406641.1_Missense_Mutation_p.S445F|GRB10_ENST00000398810.2_Missense_Mutation_p.S445F			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	503	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			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)					GATCCTGTGGGATTCCTCCCT	0.527									Russell-Silver syndrome																																								0								ENSG00000106070						200	199	199					7																	50671731		1947	4150	6097	GRB10	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	-	HGNC		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.1508C>T	7.37:g.50671731G>A	ENSP00000385770:p.Ser503Phe	Somatic	0	104	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	43	37.68	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP							pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.S503F	ENST00000401949.1	37	c.1508	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843300	0.91197	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.46	5.46	0.80206	SH2 motif (5);	0.051045	0.85682	D	0.000000	T	0.69584	0.3127	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.992	D;D;D	0.71870	0.971;0.971;0.975	T	0.74754	-0.3558	10	0.87932	D	0	-13.4362	18.9023	0.92448	0.0:0.0:1.0:0.0	.	497;457;503	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	F	503;497;445;445;445;497;445;457;445;503;35;445	ENSP00000381793:S503F;ENSP00000406716:S497F;ENSP00000338543:S445F;ENSP00000381790:S445F;ENSP00000385189:S445F;ENSP00000385544:S497F;ENSP00000385366:S445F;ENSP00000349818:S457F;ENSP00000385046:S445F;ENSP00000385770:S503F;ENSP00000385748:S445F	ENSP00000338543:S445F	S	-	2	0	GRB10	50639225	1.000000	0.71417	0.445000	0.26908	0.969000	0.65631	9.448000	0.97600	2.546000	0.85860	0.655000	0.94253	TCC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	protein_coding	OTTHUMT00000319157.1	G		-		50671731	-1	no_errors	ENST00000398812	ensembl	human	known	74_37	missense	SNP	0.950	A	A	50671731	G	A	50671731	3	1	102	1	0	0	0	0	1	0	0	0	6758	1174	41	2	288	2	GRB10	7	50671731	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2835997	50671731	108466932	282	6192											
VOPP1	81552	genome.wustl.edu	37	chr7	55540609	55540609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtaggctggagggGgcgggcaggccacactcccc	17	12	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:55540609G>A	ENST00000285279.5	-	5	658	c.458C>T	c.(457-459)cCc>cTc	p.P153L	VOPP1_ENST00000428648.1_Missense_Mutation_p.P86L|VOPP1_ENST00000427700.1_Missense_Mutation_p.P151L|VOPP1_ENST00000454227.1_Missense_Mutation_p.P90L|VOPP1_ENST00000418904.1_Missense_Mutation_p.P136L|VOPP1_ENST00000433959.1_Missense_Mutation_p.P144L|VOPP1_ENST00000428097.1_Missense_Mutation_p.P86L|VOPP1_ENST00000545390.1_Missense_Mutation_p.P150L|VOPP1_ENST00000453256.1_Missense_Mutation_p.P86L	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	153	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						GGCTGGAGGGGGCGGGCAGGC	0.647																																																	0								ENSG00000154978						7	9	8					7																	55540609		1758	3978	5736	VOPP1	SO:0001583	missense	0			-	HGNC		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"Glioblastoma-amplified secreted protein", "EGFR-coamplified and overexpressed protein"	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.458C>T	7.37:g.55540609G>A	ENSP00000285279:p.Pro153Leu	Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP							NULL	p.P153L	ENST00000285279.5	37	c.458	CCDS47588.1	7	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869024	0.72065	.	.	ENSG00000154978	ENST00000285279;ENST00000428648;ENST00000433959;ENST00000545390;ENST00000428097;ENST00000418904;ENST00000454227;ENST00000453256;ENST00000427700;ENST00000455023	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.63943	0.2554	L	0.32530	0.975	0.58432	D	0.999993	D;D;D;D	0.65815	0.982;0.995;0.995;0.982	P;D;D;P	0.63877	0.745;0.919;0.919;0.802	T	0.67511	-0.5652	8	0.87932	D	0	-8.9086	13.4463	0.61142	0.0:0.0:0.842:0.158	.	136;150;153;144	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	L	153;86;144;150;86;136;90;86;151;86	.	ENSP00000285279:P153L	P	-	2	0	VOPP1	55508103	1.000000	0.71417	0.439000	0.26833	0.727000	0.41649	5.137000	0.64789	1.280000	0.44463	0.650000	0.86243	CCC	-	NULL		0.647	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VOPP1	protein_coding	OTTHUMT00000343074.1	G	NM_030796	-		55540609	-1	no_errors	ENST00000285279	ensembl	human	known	74_37	missense	SNP	0.956	A	A	55540609	G	A	55540609	3	1	102	1	0	0	0	0	1	0	0	0	17191	1232	43	2	64	2	VOPP1	7	55540609	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4868878	55540609	103598054	283	6193											
GUSB	2990	genome.wustl.edu	37	chr7	65439344	65439344	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccacagaccacatcacGaccgcggggtggttcttgtc	12	13	2	1	rs139776224	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:65439344G>A	ENST00000304895.4	-	8	1459	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Silent_p.V297V|GUSB_ENST00000345660.6_Silent_p.V392V	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	443					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						ACCACATCACGACCGCGGGGT	0.587													G|||	6	0.00119808	0	0.0014	5008	,	,		18850	0		0	False		,,,				2504	0.0051																0								ENSG00000169919	G		3,4403	6.2+/-15.9	0,3,2200	138	125	129		1329	-9.6	0	7	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GUSB	NM_000181.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		443/652	65439344	4,13002	2203	4300	6503	GUSB	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1329C>T	7.37:g.65439344G>A		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP							pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.V443	ENST00000304895.4	37	c.1329	CCDS5530.1	7																																																																																			-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2		0.587	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	protein_coding	OTTHUMT00000251637.3	G	NM_000181	rs139776224		65439344	-1	no_errors	ENST00000304895	ensembl	human	known	74_37	silent	SNP	0.231	A	A	65439344	G	A	65439344	2	1	102	1	0	0	0	0	0	0	0	1	6904	1045	37	1		1	GUSB	7	65439344	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9898735	65439344	93699319	284	6194											
ZP3	7784	genome.wustl.edu	37	chr7	76058845	76058845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggtaactgacgatgCcctggtgtacagcaccttcc	9	15	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:76058845C>T	ENST00000394857.3	+	2	384	c.326C>T	c.(325-327)gCc>gTc	p.A109V	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000336517.4_Missense_Mutation_p.A58V	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	109	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACTGACGATGCCCTGGTGTAC	0.607																																																	0								ENSG00000188372						122	88	100					7																	76058845		2203	4300	6503	ZP3	SO:0001583	missense	0			-	HGNC	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.326C>T	7.37:g.76058845C>T	ENSP00000378326:p.Ala109Val	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q06633|Q29RW0	Missense_Mutation	SNP							pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A109V	ENST00000394857.3	37	c.326	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657739	0.29425	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.82167	-1.58;-1.58	5.21	3.3	0.37823	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	1.215340	0.05967	N	0.641653	D	0.88100	0.6346	M	0.69823	2.125	0.19945	N	0.999941	D;P	0.64830	0.994;0.471	P;B	0.59424	0.857;0.126	T	0.74722	-0.3569	10	0.25106	T	0.35	-20.7788	9.3218	0.37968	0.1402:0.6074:0.2524:0.0	.	58;109	P21754-3;P21754	.;ZP3_HUMAN	V	58;109;109	ENSP00000337310:A58V;ENSP00000378326:A109V	ENSP00000337310:A58V	A	+	2	0	ZP3	75896781	0.000000	0.05858	0.708000	0.30435	0.439000	0.31926	0.590000	0.23954	2.444000	0.82710	0.555000	0.69702	GCC	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.607	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	protein_coding	OTTHUMT00000253004.1	C		-		76058845	1	no_errors	ENST00000394857	ensembl	human	known	74_37	missense	SNP	0.145	T	T	76058845	C	T	76058845	3	4	102	1	0	0	0	0	1	0	0	0	18224	739	26	2	332	2	ZP3	7	76058845	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	10619501	76058845	83079818	285	6195											
PION	54103	genome.wustl.edu	37	chr7	76940712	76940712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggtgtgtttcagagctGcttcctctacaaattctgca	9	11	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:76940712G>A	ENST00000257626.7	-	31	2606	c.2528C>T	c.(2527-2529)gCa>gTa	p.A843V	GSAP_ENST00000440473.1_5'Flank|GSAP_ENST00000441833.2_Missense_Mutation_p.A164V	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	843					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TTTCAGAGCTGCTTCCTCTAC	0.433																																																	0								ENSG00000186088						110	104	106					7																	76940712		1887	4122	6009	GSAP	SO:0001583	missense	0			-	HGNC		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2528C>T	7.37:g.76940712G>A	ENSP00000257626:p.Ala843Val	Somatic	0	113	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP							NULL	p.A843V	ENST00000257626.7	37	c.2528	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184774	0.78677	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.18810	2.19	5.53	5.53	0.82687	.	0.063724	0.64402	D	0.000007	T	0.30417	0.0764	M	0.65975	2.015	0.40846	D	0.983716	P	0.47191	0.891	P	0.45610	0.487	T	0.02837	-1.1104	10	0.41790	T	0.15	.	15.3089	0.74016	0.0:0.0:1.0:0.0	.	843	A4D1B5	GSAP_HUMAN	V	843;164	ENSP00000257626:A843V	ENSP00000257626:A843V	A	-	2	0	PION	76778648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.052000	0.49893	2.750000	0.94351	0.655000	0.94253	GCA	-	NULL		0.433	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	protein_coding	OTTHUMT00000318672.2	G	NM_017439	-		76940712	-1	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76940712	G	A	76940712	3	1	102	1	0	0	0	0	1	0	0	0	11936	1319	46	2	40	2	PION	7	76940712	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	881867	76940712	82197951	286	6196											
MAGI2	9863	genome.wustl.edu	37	chr7	77807378	77807378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgaagccaaatccagactCcatcctccgaagatgaacat	6	13	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:77807378C>T	ENST00000354212.4	-	14	2606	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E785K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E771K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	785	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AATCCAGACTCCATCCTCCGA	0.468																																																	0								ENSG00000187391						99	93	95					7																	77807378		2203	4300	6503	MAGI2	SO:0001583	missense	0			-	HGNC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2353G>A	7.37:g.77807378C>T	ENSP00000346151:p.Glu785Lys	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.E785K	ENST00000354212.4	37	c.2353	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241654	0.58995	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.39229	1.69;1.09;1.09	5.77	4.89	0.63831	PDZ/DHR/GLGF (3);	0.000000	0.36740	U	0.002436	T	0.31979	0.0814	N	0.20685	0.6	0.80722	D	1	B;P;B	0.34743	0.002;0.466;0.021	B;B;B	0.34093	0.007;0.175;0.022	T	0.14924	-1.0455	10	0.54805	T	0.06	.	17.0119	0.86408	0.0:0.8727:0.1272:0.0	.	785;771;785	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	K	771;785;785;785	ENSP00000405766:E771K;ENSP00000346151:E785K;ENSP00000428389:E785K	ENSP00000346151:E785K	E	-	1	0	MAGI2	77645314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.037000	0.49775	1.440000	0.47531	0.650000	0.86243	GAG	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.468	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	protein_coding	OTTHUMT00000253197.3	C	NM_012301	-		77807378	-1	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77807378	C	T	77807378	3	4	102	1	0	0	0	0	1	0	0	0	9193	864	30	2	2050	2	MAGI2	7	77807378	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	866666	77807378	81331285	287	6197											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86509846	86509846	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaaatggtcttctttttCctaagaaaaaatattaaaga	4	5	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:86509846C>T	ENST00000450689.2	-	22	3216	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	KIAA1324L_ENST00000297222.6_Splice_Site_p.E771K|KIAA1324L_ENST00000444627.1_Splice_Site_p.E940K|KIAA1324L_ENST00000416314.1_Splice_Site_p.E844K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1011						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTTCTTTTTCCTAAGAAAAA	0.333																																																	0								ENSG00000164659						80	79	79					7																	86509846		2202	4299	6501	KIAA1324L	SO:0001630	splice_region_variant	0			-	HGNC	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.3031-1G>A	7.37:g.86509846C>T		Somatic	0	27	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP							superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.E1011K	ENST00000450689.2	37	c.3031	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501404	0.44455	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.17691	2.52;2.26;2.26;2.27	5.75	5.75	0.90469	.	0.220985	0.47093	N	0.000243	T	0.14700	0.0355	L	0.29908	0.895	0.54753	D	0.999989	B;B;B	0.18310	0.027;0.019;0.019	B;B;B	0.18263	0.021;0.007;0.007	T	0.10917	-1.0609	10	0.12103	T	0.63	.	18.9424	0.92610	0.0:1.0:0.0:0.0	.	1011;771;844	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	K	1011;771;940;844	ENSP00000413445:E1011K;ENSP00000297222:E771K;ENSP00000397377:E940K;ENSP00000402390:E844K	ENSP00000297222:E771K	E	-	1	0	KIAA1324L	86347782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.284000	0.65627	2.728000	0.93425	0.650000	0.86243	GAA	-	NULL		0.333	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	protein_coding	OTTHUMT00000333372.3	C	NM_152748	-	Missense_Mutation	86509846	-1	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86509846	C	T	86509846	5	4	102	1	0	0	0	0	0	0	1	0	8226	869	30	2	62	2	KIAA1324L	7	86509846	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8702468	86509846	72628817	288	6198											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86526931	86526931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgtacacccatcacagGtacctgctgggcacttgcta	9	13	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:86526931G>A	ENST00000450689.2	-	19	2761	c.2576C>T	c.(2575-2577)aCc>aTc	p.T859I	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T619I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T788I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T692I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	859						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCATCACAGGTACCTGCTGG	0.453																																																	0								ENSG00000164659						88	76	80					7																	86526931		2203	4300	6503	KIAA1324L	SO:0001583	missense	0			-	HGNC	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2576C>T	7.37:g.86526931G>A	ENSP00000413445:p.Thr859Ile	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP							superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.T859I	ENST00000450689.2	37	c.2576	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732229	0.89482	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	5.59	5.59	0.84812	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.00212	-1.1914	10	0.87932	D	0	.	18.5874	0.91196	0.0:0.0:1.0:0.0	.	859;619;692	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	859;619;788;692	ENSP00000413445:T859I;ENSP00000297222:T619I;ENSP00000397377:T788I;ENSP00000402390:T692I	ENSP00000297222:T619I	T	-	2	0	KIAA1324L	86364867	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	9.869000	0.99810	2.642000	0.89623	0.650000	0.86243	ACC	-	superfamily_Man6P_isomerase_rcpt-bd_dom		0.453	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	protein_coding	OTTHUMT00000333372.3	G	NM_152748	-		86526931	-1	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86526931	G	A	86526931	3	1	102	1	0	0	0	0	1	0	0	0	8226	1261	44	2	529	2	KIAA1324L	7	86526931	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	17085	86526931	72611732	289	6199											
PEX1	5189	genome.wustl.edu	37	chr7	92119193	92119193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccaggcaaatcctgagtCatggagcttggtgcagagag	13	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:92119193C>T	ENST00000248633.4	-	22	3566	c.3471G>A	c.(3469-3471)atG>atA	p.M1157I	PEX1_ENST00000438045.1_Missense_Mutation_p.M835I|PEX1_ENST00000428214.1_Missense_Mutation_p.M1100I|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1157					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATCCTGAGTCATGGAGCTTG	0.453																																																	0								ENSG00000127980						77	67	71					7																	92119193		2203	4300	6503	PEX1	SO:0001583	missense	0			-	HGNC	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3471G>A	7.37:g.92119193C>T	ENSP00000248633:p.Met1157Ile	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	5	70.59	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.M1157I	ENST00000248633.4	37	c.3471	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	C	3.755	-0.050884	0.07407	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94092	-3.29;-3.31;-3.35	5.87	1.33	0.21861	.	0.860044	0.10783	N	0.634633	T	0.73273	0.3566	N	0.01352	-0.895	0.20403	N	0.999906	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.66822	-0.5826	10	0.06891	T	0.86	-1.4234	0.5561	0.00671	0.175:0.3116:0.1704:0.343	.	835;949;1157	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	835;1157;1100	ENSP00000410438:M835I;ENSP00000248633:M1157I;ENSP00000394413:M1100I	ENSP00000248633:M1157I	M	-	3	0	PEX1	91957129	0.510000	0.26171	0.990000	0.47175	0.859000	0.49053	0.091000	0.15046	0.825000	0.34637	0.650000	0.86243	ATG	-	NULL		0.453	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	protein_coding	OTTHUMT00000254066.3	C	NM_000466	-		92119193	-1	no_errors	ENST00000248633	ensembl	human	known	74_37	missense	SNP	0.176	T	T	92119193	C	T	92119193	3	4	102	1	0	0	0	0	1	0	0	0	11737	826	29	2	392	2	PEX1	7	92119193	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5592262	92119193	67019470	290	6200											
BAIAP2L1	55971	genome.wustl.edu	37	chr7	97949598	97949598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtacttgaaatctctAtgaggacatgtcctgggaac	12	7	1	2	rs369919591		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:97949598A>G	ENST00000005260.8	-	4	442	c.227T>C	c.(226-228)aTa>aCa	p.I76T	RP11-307C18.1_ENST00000610062.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	76	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				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)			TGAAATCTCTATGAGGACATG	0.393																																																	0								ENSG00000006453						90	86	88					7																	97949598		2203	4300	6503	BAIAP2L1	SO:0001583	missense	0			-	HGNC	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.227T>C	7.37:g.97949598A>G	ENSP00000005260:p.Ile76Thr	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP							pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.I76T	ENST00000005260.8	37	c.227	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153418	0.78114	.	.	ENSG00000006453	ENST00000005260	T	0.21932	1.98	5.71	5.71	0.89125	IRSp53/MIM homology domain (IMD) (3);	0.073817	0.85682	D	0.000000	T	0.30166	0.0756	L	0.52573	1.65	0.47276	D	0.99937	P	0.48834	0.916	P	0.51701	0.677	T	0.02269	-1.1185	10	0.18276	T	0.48	-12.0958	15.1704	0.72869	1.0:0.0:0.0:0.0	.	76	Q9UHR4	BI2L1_HUMAN	T	76	ENSP00000005260:I76T	ENSP00000005260:I76T	I	-	2	0	AC093799.1	97787534	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.751000	0.68720	2.180000	0.69256	0.533000	0.62120	ATA	-	pfam_IRSp53/MIM_homology_IMD		0.393	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	protein_coding	OTTHUMT00000334681.1	A	NM_018842	-		97949598	-1	no_errors	ENST00000005260	ensembl	human	known	74_37	missense	SNP	1.000	G	G	97949598	A	G	97949598	3	3	102	1	0	0	0	0	1	0	0	0	1302	449	16	5	1352	5	BAIAP2L1	7	97949598	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	5830405	97949598	61189065	291	6201											
MUC17	140453	genome.wustl.edu	37	chr7	100684070	100684070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttctgcaatcagcaccCtttcaacaactcctgttgac	5	15	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:100684070C>T	ENST00000306151.4	+	3	9437	c.9373C>T	c.(9373-9375)Ctt>Ttt	p.L3125F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3125	59 X approximate tandem repeats.|Ser-rich.				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)	p.L3125I(1)		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)					AATCAGCACCCTTTCAACAAC	0.498																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000169876						296	303	300					7																	100684070		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.9373C>T	7.37:g.100684070C>T	ENSP00000302716:p.Leu3125Phe	Somatic	0	111	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	28	42.86	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L3125F	ENST00000306151.4	37	c.9373	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	1.790	-0.479716	0.04383	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.951	-1.13	0.09775	.	.	.	.	.	T	0.01592	0.0051	N	0.04880	-0.145	0.09310	N	1	B	0.17667	0.023	B	0.23419	0.046	T	0.46707	-0.9172	9	0.52906	T	0.07	.	4.4854	0.11787	0.0:0.2416:0.0:0.7584	.	3125	Q685J3	MUC17_HUMAN	F	3125	ENSP00000302716:L3125F	ENSP00000302716:L3125F	L	+	1	0	MUC17	100470790	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.938000	0.00089	-0.180000	0.10637	0.121000	0.15741	CTT	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100684070	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.004	T	T	100684070	C	T	100684070	3	4	102	1	0	0	0	0	1	0	0	0	9976	681	24	2	9383	2	MUC17	7	100684070	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2734472	100684070	58454593	292	6202											
PIK3CG	5294	genome.wustl.edu	37	chr7	106508271	106508271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcggcggacttctacCaccggctgggaccgcatcac	14	15	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:106508271C>T	ENST00000359195.3	+	2	575	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.H89Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H89Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	89	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACTTCTACCACCGGCTGGG	0.632																																																	0								ENSG00000105851						24	26	26					7																	106508271		2198	4294	6492	PIK3CG	SO:0001583	missense	0			-	HGNC		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.265C>T	7.37:g.106508271C>T	ENSP00000352121:p.His89Tyr	Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H89Y	ENST00000359195.3	37	c.265	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849227	0.32699	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70045	-0.45;-0.45;-0.45	5.64	5.64	0.86602	.	0.251252	0.48767	N	0.000174	T	0.63593	0.2524	L	0.44542	1.39	0.54753	D	0.999981	B	0.21147	0.052	B	0.16722	0.016	T	0.59663	-0.7412	10	0.62326	D	0.03	-16.5734	20.0585	0.97663	0.0:1.0:0.0:0.0	.	89	P48736	PK3CG_HUMAN	Y	89	ENSP00000392258:H89Y;ENSP00000419260:H89Y;ENSP00000352121:H89Y	ENSP00000352121:H89Y	H	+	1	0	PIK3CG	106295507	1.000000	0.71417	0.954000	0.39281	0.275000	0.26752	5.924000	0.70054	2.812000	0.96745	0.557000	0.71058	CAC	-	NULL		0.632	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	protein_coding	OTTHUMT00000349294.1	C		-		106508271	1	no_errors	ENST00000359195	ensembl	human	known	74_37	missense	SNP	1.000	T	T	106508271	C	T	106508271	3	4	102	1	0	0	0	0	1	0	0	0	11918	594	21	2	267	2	PIK3CG	7	106508271	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5824201	106508271	52630392	293	6203											
GRM8	2918	genome.wustl.edu	37	chr7	126173686	126173686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaacacaggcaccacagCccagggagaatgccactcca	8	15	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:126173686C>T	ENST00000339582.2	-	9	2558	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A584T|GRM8_ENST00000444921.2_Missense_Mutation_p.A584T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	584					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)			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)				GGCACCACAGCCCAGGGAGAA	0.517										HNSCC(24;0.065)																																							0								ENSG00000179603						134	116	122					7																	126173686		2203	4300	6503	GRM8	SO:0001583	missense	0			-	HGNC		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.1750G>A	7.37:g.126173686C>T	ENSP00000344173:p.Ala584Thr	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.A584T	ENST00000339582.2	37	c.1750	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986907	0.93106	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89875	-2.5;-2.5;-2.58	5.8	5.8	0.92144	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	M	0.92691	3.335	0.80722	D	1	D;P	0.63880	0.993;0.884	P;P	0.58520	0.84;0.54	D	0.95617	0.8677	10	0.62326	D	0.03	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	584;584	O00222-2;O00222	.;GRM8_HUMAN	T	584	ENSP00000344173:A584T;ENSP00000409790:A584T;ENSP00000351142:A584T	ENSP00000344173:A584T	A	-	1	0	GRM8	125960922	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.088000	0.71371	2.758000	0.94735	0.643000	0.83706	GCT	-	pfscan_GPCR_3_C		0.517	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	protein_coding	OTTHUMT00000059209.4	C		-		126173686	-1	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126173686	C	T	126173686	3	4	102	1	0	0	0	0	1	0	0	0	6805	739	26	2	1038	2	GRM8	7	126173686	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	19665415	126173686	32964977	294	6204											
UBN2	254048	genome.wustl.edu	37	chr7	138968887	138968887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactaaacttatttctaaatCcaacccaactcccaagccta	1	14	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:138968887C>T	ENST00000473989.3	+	15	3236	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	UBN2_ENST00000288561.8_Missense_Mutation_p.S996F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1079	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						ATTTCTAAATCCAACCCAACT	0.507																																																	0								ENSG00000157741						104	111	108					7																	138968887		1973	4139	6112	UBN2	SO:0001583	missense	0			-	HGNC	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.3236C>T	7.37:g.138968887C>T	ENSP00000418648:p.Ser1079Phe	Somatic	0	112	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP							NULL	p.S1079F	ENST00000473989.3	37	c.3236	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364646	0.61513	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.39406	1.16;1.08	5.51	5.51	0.81932	.	0.086607	0.50627	D	0.000118	T	0.58935	0.2157	L	0.40543	1.245	0.58432	D	0.999991	D	0.65815	0.995	D	0.75484	0.986	T	0.59413	-0.7459	10	0.72032	D	0.01	-9.3717	19.7923	0.96464	0.0:1.0:0.0:0.0	.	1079	Q6ZU65	UBN2_HUMAN	F	1079;996	ENSP00000418648:S1079F;ENSP00000288561:S996F	ENSP00000288561:S996F	S	+	2	0	UBN2	138619427	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.539000	0.53604	2.752000	0.94435	0.557000	0.71058	TCC	-	NULL		0.507	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	C	NM_173569	-		138968887	1	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	SNP	1.000	T	T	138968887	C	T	138968887	3	4	102	1	0	0	0	0	1	0	0	0	16900	855	30	2	3294	2	UBN2	7	138968887	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	12795201	138968887	20169776	295	6205											
HIPK2	28996	genome.wustl.edu	37	chr7	139299109	139299109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgggctgttcctgtcTgcaggggcatgctccgctgg	14	11	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:139299109T>A	ENST00000406875.3	-	8	2007	c.1913A>T	c.(1912-1914)cAg>cTg	p.Q638L	HIPK2_ENST00000428878.2_Missense_Mutation_p.Q611L|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q638L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	638	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGTTCCTGTCTGCAGGGGCAT	0.587																																																	0								ENSG00000064393						47	53	51					7																	139299109		1949	4149	6098	HIPK2	SO:0001583	missense	0			-	HGNC	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1913A>T	7.37:g.139299109T>A	ENSP00000385571:p.Gln638Leu	Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q638L	ENST00000406875.3	37	c.1913		7	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036568	0.54896	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55588	0.51;0.57;0.57	5.39	4.23	0.50019	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.47183	D	0.99934	P;B	0.37466	0.596;0.069	B;B	0.26770	0.073;0.055	T	0.37842	-0.9688	8	0.72032	D	0.01	.	11.5157	0.50520	0.0:0.0708:0.0:0.9292	.	638;611	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	638;611;638	ENSP00000385571:Q638L;ENSP00000413724:Q611L;ENSP00000343108:Q638L	ENSP00000343108:Q638L	Q	-	2	0	HIPK2	138949649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.111000	0.71541	0.978000	0.38470	0.460000	0.39030	CAG	-	NULL		0.587	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	protein_coding	OTTHUMT00000349430.3	T	NM_022740	-		139299109	-1	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139299109	T	A	139299109	3	1	102	1	0	0	0	0	1	0	0	0	7119	1580	55	5	1715	5	HIPK2	7	139299109	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	330222	139299109	19839554	296	6206											
NDUFB2	4708	genome.wustl.edu	37	chr7	140402735	140402735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaccagatcccaggtgttCcagagcgagttcttcagcgg	12	12	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:140402735C>T	ENST00000476279.1	+	2	242	c.168C>T	c.(166-168)ttC>ttT	p.F56F	NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000471136.1_Silent_p.F44F|NDUFB2_ENST00000204307.5_Silent_p.F46F|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000465506.1_Silent_p.F56F|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000475276.1_Silent_p.F29F|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000247866.4_Silent_p.F56F			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	56					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					CCCAGGTGTTCCAGAGCGAGT	0.542																																																	0								ENSG00000090266						177	172	174					7																	140402735		2203	4300	6503	NDUFB2	SO:0001819	synonymous_variant	0			-	HGNC	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"Mitochondrial respiratory chain complex / Complex I"	7697	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase AGGG subunit", "complex I AGGG subunit"	603838	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.168C>T	7.37:g.140402735C>T		Somatic	0	99	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q6FGI6	Silent	SNP							NULL	p.F56	ENST00000476279.1	37	c.168	CCDS5862.1	7																																																																																			-	NULL		0.542	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2	protein_coding	OTTHUMT00000348784.1	C	NM_004546	-		140402735	1	no_errors	ENST00000247866	ensembl	human	known	74_37	silent	SNP	0.000	T	T	140402735	C	T	140402735	2	4	102	1	0	0	0	0	0	0	0	1	10283	854	30	2		2	NDUFB2	7	140402735	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1103626	140402735	18735928	297	6207											
KEL	3792	genome.wustl.edu	37	chr7	142643301	142643301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctctcacatacagcacttCgggtgctcgggccaaaggcc	11	14	1	0	rs199731371		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:142643301C>T	ENST00000355265.2	-	11	1781	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	436					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACAGCACTTCGGGTGCTCGG	0.577													C|||	1	0.000199681	0	0	5008	,	,		18078	0.001		0	False		,,,				2504	0																0								ENSG00000197993						64	58	60					7																	142643301		2203	4300	6503	KEL	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1307G>A	7.37:g.142643301C>T	ENSP00000347409:p.Arg436Gln	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R436Q	ENST00000355265.2	37	c.1307	CCDS34766.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.947	0.744068	0.15710	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	4.24	-8.49	0.00931	Peptidase M13 (1);	1.837240	0.03271	N	0.184806	T	0.49508	0.1561	N	0.02916	-0.46	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47275	-0.9130	10	0.51188	T	0.08	0.5812	12.9737	0.58527	0.0:0.5482:0.0:0.4518	.	436	P23276	KELL_HUMAN	Q	436	ENSP00000347409:R436Q	ENSP00000347409:R436Q	R	-	2	0	KEL	142353423	0.000000	0.05858	0.070000	0.20053	0.248000	0.25809	-1.527000	0.02227	-1.473000	0.01881	-0.355000	0.07637	CGA	-	pfam_Peptidase_M13_N		0.577	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	C	NM_000420	rs199731371		142643301	-1	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	SNP	0.063	T	T	142643301	C	T	142643301	3	4	102	1	0	0	0	0	1	0	0	0	8144	884	31	1	927	1	KEL	7	142643301	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2240566	142643301	16495362	298	6208											
OR2F2	135948	genome.wustl.edu	37	chr7	143633090	143633090	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctgtgctacggcacaacGattttcacttacatccagcc	7	15	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:143633090G>A	ENST00000408955.2	+	1	832	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512																																																	0								ENSG00000221910						118	114	116					7																	143633090		2203	4300	6503	OR2F2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.765G>A	7.37:g.143633090G>A		Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	42.86	A4D2G0|Q6IFP8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T255	ENST00000408955.2	37	c.765	CCDS43666.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F2	protein_coding	OTTHUMT00000349570.1	G		-		143633090	1	no_errors	ENST00000408955	ensembl	human	known	74_37	silent	SNP	0.035	A	A	143633090	G	A	143633090	2	1	102	1	0	0	0	0	0	0	0	1	10999	1045	37	1		1	OR2F2	7	143633090	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	989789	143633090	15505573	299	6209											
GALNTL5	168391	genome.wustl.edu	37	chr7	151704932	151704932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcacctgcaatgtctggagGaatttttgctatacgtcggc	11	9	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:151704932G>A	ENST00000392800.2	+	7	1183	c.929G>A	c.(928-930)gGa>gAa	p.G310E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G310E|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	310	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGTCTGGAGGAATTTTTGCT	0.328																																																	0								ENSG00000106648						125	125	125					7																	151704932		2203	4300	6503	GALNTL5	SO:0001583	missense	0			-	HGNC	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.929G>A	7.37:g.151704932G>A	ENSP00000376548:p.Gly310Glu	Somatic	0	73	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP							pfam_Glyco_trans_2	p.G310E	ENST00000392800.2	37	c.929	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246026	0.80024	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.62364	0.03;0.03	4.68	3.78	0.43462	.	0.000000	0.36665	N	0.002466	D	0.84982	0.5593	H	0.97707	4.06	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.89167	0.3534	10	0.87932	D	0	.	12.3851	0.55328	0.0832:0.0:0.9168:0.0	.	61;310	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	E	310	ENSP00000392582:G310E;ENSP00000376548:G310E	ENSP00000376548:G310E	G	+	2	0	GALNTL5	151335865	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	6.502000	0.73695	2.438000	0.82558	0.632000	0.83419	GGA	-	NULL		0.328	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	protein_coding	OTTHUMT00000348395.1	G	NM_145292	-		151704932	1	no_errors	ENST00000392800	ensembl	human	known	74_37	missense	SNP	0.995	A	A	151704932	G	A	151704932	3	1	102	1	0	0	0	0	1	0	0	0	6226	1174	41	2	951	2	GALNTL5	7	151704932	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8071842	151704932	7433731	300	6210											
AMAC1L2	83650	genome.wustl.edu	37	chr8	11189398	11189398	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtgggggcagaggggatCctcgccttggtctccttcac	15	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:11189398C>T	ENST00000382435.4	+	1	1002	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	261						integral component of membrane (GO:0016021)											CAGAGGGGATCCTCGCCTTGG	0.632																																																	0								ENSG00000177710						120	115	117					8																	11189398		2203	4300	6503	SLC35G5	SO:0001819	synonymous_variant	0			-	HGNC	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.783C>T	8.37:g.11189398C>T		Somatic	0	195	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	53	45.36	A2RRL6	Silent	SNP							pfam_DMT	p.I261	ENST00000382435.4	37	c.783	CCDS5980.1	8																																																																																			-	pfam_DMT		0.632	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	protein_coding	OTTHUMT00000207313.2	C	NM_054028	-		11189398	1	no_errors	ENST00000382435	ensembl	human	known	74_37	silent	SNP	0.851	T	T	11189398	C	T	11189398	2	4	102	1	0	0	0	0	0	0	0	1	560	845	30	2		2	AMAC1L2	8	11189398	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		11189398	135174624	301	6211											
NAT1	9	genome.wustl.edu	37	chr8	18079883	18079883	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggcatgattcaccttctCctgcaggtgaccattgatgg	10	11	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:18079883C>T	ENST00000517492.1	+	3	965	c.327C>T	c.(325-327)ctC>ctT	p.L109L	NAT1_ENST00000541942.1_Silent_p.L109L|NAT1_ENST00000520546.1_Silent_p.L109L|NAT1_ENST00000535084.1_Silent_p.L109L|NAT1_ENST00000307719.4_Silent_p.L109L|NAT1_ENST00000545197.1_Silent_p.L171L|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000518029.1_Silent_p.L109L|NAT1_ENST00000539092.1_Silent_p.L109L			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTCACCTTCTCCTGCAGGTGA	0.493																																																	0								ENSG00000171428						179	172	174					8																	18079883		2203	4300	6503	NAT1	SO:0001819	synonymous_variant	0			-	HGNC	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.327C>T	8.37:g.18079883C>T		Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	C9JWA6|Q86SY5	Silent	SNP							pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.L171	ENST00000517492.1	37	c.513	CCDS6007.1	8																																																																																			-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase		0.493	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	protein_coding	OTTHUMT00000374828.1	C	NM_000662	-		18079883	1	no_errors	ENST00000545197	ensembl	human	known	74_37	silent	SNP	0.003	T	T	18079883	C	T	18079883	2	4	102	1	0	0	0	0	0	0	0	1	10175	842	30	2		2	NAT1	8	18079883	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6890485	18079883	128284139	302	6212											
XPO7	23039	genome.wustl.edu	37	chr8	21837635	21837635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcgcttcagtcagaagatCcctgtttaacaatgcagaga	9	9	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:21837635C>T	ENST00000252512.9	+	9	978	c.878C>T	c.(877-879)tCc>tTc	p.S293F	XPO7_ENST00000433566.4_Missense_Mutation_p.S294F|XPO7_ENST00000434536.1_Missense_Mutation_p.S302F	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	293				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTCAGAAGATCCCTGTTTAAC	0.403																																																	0								ENSG00000130227						123	115	118					8																	21837635		1914	4125	6039	XPO7	SO:0001583	missense	0			-	HGNC	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.878C>T	8.37:g.21837635C>T	ENSP00000252512:p.Ser293Phe	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP							pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S302F	ENST00000252512.9	37	c.905	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.101243	0.94245	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.51071	0.72;0.72;0.72	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	D	0.83770	0.0219	10	0.87932	D	0	-12.7012	19.1654	0.93555	0.0:1.0:0.0:0.0	.	294;302;293	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	F	302;293;294	ENSP00000404853:S302F;ENSP00000252512:S293F;ENSP00000410249:S294F	ENSP00000252512:S293F	S	+	2	0	XPO7	21893581	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.622000	0.88805	0.655000	0.94253	TCC	-	superfamily_ARM-type_fold		0.403	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	protein_coding	OTTHUMT00000375494.1	C	NM_015024	-		21837635	1	no_errors	ENST00000434536	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21837635	C	T	21837635	3	4	102	1	0	0	0	0	1	0	0	0	17456	855	30	2	964	2	XPO7	8	21837635	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3757752	21837635	124526387	303	6213											
NUDT18	79873	genome.wustl.edu	37	chr8	21965314	21965314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgcaggatgtcatGggctcgcagcggagtgggca	17	9	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:21965314G>T	ENST00000309188.6	-	5	587	c.469C>A	c.(469-471)Cat>Aat	p.H157N	NUDT18_ENST00000522405.1_Missense_Mutation_p.H80N|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	157	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		AGGATGTCATGGGCTCGCAGC	0.622																																																	0								ENSG00000173566						56	65	62					8																	21965314		2140	4246	6386	NUDT18	SO:0001583	missense	0			-	HGNC		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.469C>A	8.37:g.21965314G>T	ENSP00000307852:p.His157Asn	Somatic	0	27	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q8IZ75|Q9H687	Missense_Mutation	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	p.H157N	ENST00000309188.6	37	c.469		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.831696|1.831696	0.32421|0.32421	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	T;T|.	0.39997|.	1.05;3.11|.	5.37|5.37	5.37|5.37	0.77165|0.77165	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);|.	0.560586|.	0.19051|.	N|.	0.124046|.	T|T	0.37100|0.37100	0.0991|0.0991	N|N	0.04787|0.04787	-0.16|-0.16	0.43199|0.43199	D|D	0.995047|0.995047	B|.	0.20459|.	0.045|.	B|.	0.29716|.	0.106|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.21540|.	T|.	0.41|.	-0.5675|-0.5675	14.623|14.623	0.68599|0.68599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	157|.	Q6ZVK8|.	NUD18_HUMAN|.	N|Q	80;157|192	ENSP00000430539:H80N;ENSP00000307852:H157N|.	ENSP00000307852:H157N|.	H|P	-|-	1|2	0|0	NUDT18|NUDT18	22021259|22021259	0.968000|0.968000	0.33430|0.33430	0.268000|0.268000	0.24571|0.24571	0.433000|0.433000	0.31745|0.31745	4.018000|4.018000	0.57174|0.57174	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	CAT|CCA	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.622	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	NUDT18	protein_coding		G	NM_024815	-		21965314	-1	no_errors	ENST00000309188	ensembl	human	known	74_37	missense	SNP	0.978	T	T	21965314	G	T	21965314	3	4	102	1	0	0	0	0	1	0	0	0	10737	1348	47	3	506	3	NUDT18	8	21965314	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	127679	21965314	124398708	304	6214											
C8orf80	389643	genome.wustl.edu	37	chr8	27927065	27927065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagatttcagactcacatgaGatacttgactccattaggga	8	9	2	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:27927065G>A	ENST00000413272.2	-	4	395	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	NUGGC_ENST00000341513.6_Missense_Mutation_p.L85F	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	85					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)										ACTCACATGAGATACTTGACT	0.408																																																	0								ENSG00000189233						107	104	105					8																	27927065		1931	4161	6092	NUGGC	SO:0001583	missense	0			-	HGNC	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.253C>T	8.37:g.27927065G>A	ENSP00000408697:p.Leu85Phe	Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q6ZP73	Missense_Mutation	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L85F	ENST00000413272.2	37	c.253	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116453	0.77323	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.96011	-3.88;-3.88	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000031	D	0.95843	0.8647	L	0.36672	1.1	0.40282	D	0.978407	D	0.89917	1.0	D	0.78314	0.991	D	0.94730	0.7909	10	0.30854	T	0.27	.	14.9787	0.71296	0.0:0.0:1.0:0.0	.	85	Q68CJ6	SLIP_HUMAN	F	85	ENSP00000408697:L85F;ENSP00000345031:L85F	ENSP00000345031:L85F	L	-	1	0	C8orf80	27982984	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.445000	0.52921	2.671000	0.90904	0.650000	0.86243	CTC	-	superfamily_P-loop_NTPase		0.408	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	protein_coding	OTTHUMT00000342494.1	G	NM_001010906	-		27927065	-1	no_errors	ENST00000341513	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27927065	G	A	27927065	3	1	102	1	0	0	0	0	1	0	0	0	2441	942	33	2	2201	2	C8orf80	8	27927065	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5961751	27927065	118436957	305	6215											
KCNU1	157855	genome.wustl.edu	37	chr8	36644847	36644847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttcacatcaggtaccatCgctaggagccatgtaagaag	10	10	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:36644847C>T	ENST00000399881.3	+	2	256	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	73					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)		CAGGTACCATCGCTAGGAGCC	0.433																																																	0								ENSG00000215262						82	78	80					8																	36644847		1931	4119	6050	KCNU1	SO:0001819	synonymous_variant	0			-	HGNC	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.219C>T	8.37:g.36644847C>T		Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44		Silent	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.I73	ENST00000399881.3	37	c.219	CCDS55220.1	8																																																																																			-	NULL		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	C	NM_001031836	-		36644847	1	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	SNP	0.000	T	T	36644847	C	T	36644847	2	4	102	1	0	0	0	0	0	0	0	1	8095	874	31	1		1	KCNU1	8	36644847	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8717782	36644847	109719175	306	6216											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37729196	37729196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgtggtctgctctgaagGagctgtcacagatgcctggg	14	10	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:37729196G>A	ENST00000330843.4	-	4	3136	c.3124C>T	c.(3124-3126)Cct>Tct	p.P1042S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1042					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)			TGCTCTGAAGGAGCTGTCACA	0.567																																																	0								ENSG00000156675						60	69	66					8																	37729196		2203	4300	6503	RAB11FIP1	SO:0001583	missense	0			-	HGNC	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.3124C>T	8.37:g.37729196G>A	ENSP00000331342:p.Pro1042Ser	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1042S	ENST00000330843.4	37	c.3124	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457580	0.04508	.	.	ENSG00000156675	ENST00000330843	T	0.12147	2.71	5.05	0.105	0.14535	.	0.853264	0.10017	N	0.726491	T	0.05410	0.0143	N	0.08118	0	0.27551	N	0.950501	B;B	0.17038	0.02;0.004	B;B	0.16722	0.016;0.002	T	0.39901	-0.9591	10	0.33141	T	0.24	-0.0025	0.5367	0.00638	0.419:0.2233:0.1729:0.1848	.	371;1042	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	S	1042	ENSP00000331342:P1042S	ENSP00000331342:P1042S	P	-	1	0	RAB11FIP1	37848354	0.045000	0.20229	0.017000	0.16124	0.086000	0.17979	0.710000	0.25748	0.122000	0.18314	0.655000	0.94253	CCT	-	NULL		0.567	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	G	NM_025151	-		37729196	-1	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	SNP	0.020	A	A	37729196	G	A	37729196	3	1	102	1	0	0	0	0	1	0	0	0	12901	1174	41	2	739	2	RAB11FIP1	8	37729196	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1084349	37729196	108634826	307	6217											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37729999	37729999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctcccatgggaagaGggggcgccacttcttcagct	13	12	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:37729999G>A	ENST00000330843.4	-	4	2333	c.2321C>T	c.(2320-2322)cCt>cTt	p.P774L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	774					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)			CATGGGAAGAGGGGGCGCCAC	0.557																																																	0								ENSG00000156675						81	85	84					8																	37729999		2203	4300	6503	RAB11FIP1	SO:0001583	missense	0			-	HGNC	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.2321C>T	8.37:g.37729999G>A	ENSP00000331342:p.Pro774Leu	Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P774L	ENST00000330843.4	37	c.2321	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074094	0.55646	.	.	ENSG00000156675	ENST00000330843	T	0.16196	2.36	4.49	1.58	0.23477	.	0.319063	0.22625	N	0.057648	T	0.09335	0.0230	N	0.24115	0.695	0.09310	N	0.999997	P;B	0.34639	0.461;0.014	B;B	0.33339	0.162;0.006	T	0.19582	-1.0301	10	0.45353	T	0.12	-3.9985	4.7946	0.13267	0.2071:0.1769:0.616:0.0	.	103;774	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	L	774	ENSP00000331342:P774L	ENSP00000331342:P774L	P	-	2	0	RAB11FIP1	37849157	0.000000	0.05858	0.011000	0.14972	0.143000	0.21401	0.397000	0.20883	0.323000	0.23307	0.655000	0.94253	CCT	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	G	NM_025151	-		37729999	-1	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	SNP	0.002	A	A	37729999	G	A	37729999	3	1	102	1	0	0	0	0	1	0	0	0	12901	1000	35	2	1542	2	RAB11FIP1	8	37729999	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	803	37729999	108634023	308	6218											
ST18	9705	genome.wustl.edu	37	chr8	53126799	53126799	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgagtacgcagcgttttatCttcagcctctgcatccatct	8	13	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:53126799C>T	ENST00000276480.7	-	7	702	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	7					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCGTTTTATCTTCAGCCTCT	0.428																																																	0								ENSG00000147488						194	161	172					8																	53126799		2203	4300	6503	ST18	SO:0001583	missense	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.19G>A	8.37:g.53126799C>T	ENSP00000276480:p.Asp7Asn	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	Q17RY1	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.D7N	ENST00000276480.7	37	c.19	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089818	0.76756	.	.	ENSG00000147488	ENST00000276480;ENST00000517580;ENST00000519118	T;T	0.49432	0.8;0.78	5.49	5.49	0.81192	.	0.201813	0.41823	D	0.000808	T	0.39358	0.1075	L	0.40543	1.245	0.32068	N	0.594854	B	0.13145	0.007	B	0.11329	0.006	T	0.40515	-0.9559	10	0.30078	T	0.28	-10.9808	13.4646	0.61245	0.0:0.9188:0.0:0.0812	.	7	O60284	ST18_HUMAN	N	7	ENSP00000276480:D7N;ENSP00000428521:D7N	ENSP00000276480:D7N	D	-	1	0	ST18	53289352	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.051000	0.57412	2.746000	0.94184	0.655000	0.94253	GAT	-	NULL		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	C		-		53126799	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53126799	C	T	53126799	3	4	102	1	0	0	0	0	1	0	0	0	15219	913	32	2	3204	2	ST18	8	53126799	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	15396800	53126799	93237223	309	6219											
SOX17	64321	genome.wustl.edu	37	chr8	55372039	55372039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccgccccgatgcccggGgactgcccggcggccggcac	15	19	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:55372039G>A	ENST00000297316.4	+	2	933	c.729G>A	c.(727-729)ggG>ggA	p.G243G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	243					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGATGCCCGGGGACTGCCCGG	0.766																																																	0								ENSG00000164736						2	2	2					8																	55372039		1244	2846	4090	SOX17	SO:0001819	synonymous_variant	0			-	HGNC	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.729G>A	8.37:g.55372039G>A		Somatic	0	13	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44		Silent	SNP							pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G243	ENST00000297316.4	37	c.729	CCDS6159.1	8																																																																																			-	pfam_Sox_C_TAD		0.766	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	protein_coding	OTTHUMT00000378526.2	G		-		55372039	1	no_errors	ENST00000297316	ensembl	human	known	74_37	silent	SNP	0.958	A	A	55372039	G	A	55372039	2	1	102	1	0	0	0	0	0	0	0	1	14955	1219	43	2		2	SOX17	8	55372039	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2245240	55372039	90991983	310	6220											
RAB2A	5862	genome.wustl.edu	37	chr8	61496781	61496781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaggcagggcaagaatcCtttcgttccatcacaaggtc	9	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:61496781C>T	ENST00000262646.7	+	4	552	c.201C>T	c.(199-201)tcC>tcT	p.S67S	RAB2A_ENST00000531289.1_Silent_p.S43S|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Silent_p.S67S	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCAAGAATCCTTTCGTTCCA	0.378																																																	0								ENSG00000104388						141	143	142					8																	61496781		2203	4300	6503	RAB2A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.201C>T	8.37:g.61496781C>T		Somatic	0	106	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	B2R5W8|B4DMQ5|P08886	Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S67	ENST00000262646.7	37	c.201	CCDS6175.1	8																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	protein_coding	OTTHUMT00000259145.2	C		-		61496781	1	no_errors	ENST00000262646	ensembl	human	known	74_37	silent	SNP	1.000	T	T	61496781	C	T	61496781	2	4	102	1	0	0	0	0	0	0	0	1	12925	668	24	2		2	RAB2A	8	61496781	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6124742	61496781	84867241	311	6221											
CLVS1	157807	genome.wustl.edu	37	chr8	62212438	62212438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttaaacacttggaacGgagatttggccaagatgacc	11	7	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:62212438G>A	ENST00000519846.1	+	3	524	c.52G>A	c.(52-54)Gga>Aga	p.G18R	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.G18R|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	18					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)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACTTGGAACGGAGATTTGGC	0.443																																																	0								ENSG00000177182						60	59	59					8																	62212438		2203	4300	6503	CLVS1	SO:0001583	missense	0			-	HGNC	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.52G>A	8.37:g.62212438G>A	ENSP00000428402:p.Gly18Arg	Somatic	0	39	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.G18R	ENST00000519846.1	37	c.52	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	G	3.954	-0.011774	0.07727	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.78924	-1.22;-1.22	5.79	3.95	0.45737	.	0.883265	0.10054	N	0.721920	T	0.71643	0.3364	L	0.36672	1.1	0.29131	N	0.879647	D;B;B	0.62365	0.991;0.0;0.022	P;B;B	0.51193	0.662;0.0;0.008	T	0.60372	-0.7276	10	0.15952	T	0.53	0.9934	5.1782	0.15146	0.1469:0.1959:0.6572:0.0	.	18;18;18	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	R	18	ENSP00000428402:G18R;ENSP00000325506:G18R	ENSP00000325506:G18R	G	+	1	0	CLVS1	62374992	1.000000	0.71417	0.972000	0.41901	0.829000	0.46940	2.377000	0.44300	1.411000	0.46957	0.655000	0.94253	GGA	-	NULL		0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	protein_coding	OTTHUMT00000378323.1	G	NM_173519	-		62212438	1	no_errors	ENST00000325897	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62212438	G	A	62212438	3	1	102	1	0	0	0	0	1	0	0	0	3573	1117	39	1	54	1	CLVS1	8	62212438	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	715657	62212438	84151584	312	6222											
CLVS1	157807	genome.wustl.edu	37	chr8	62212557	62212557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatattcagcaagtcagGgacatgatcatcaccaggcc	10	11	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:62212557G>A	ENST00000519846.1	+	3	643	c.171G>A	c.(169-171)agG>agA	p.R57R	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.R57R|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	57					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)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGCAAGTCAGGGACATGATCA	0.473																																																	0								ENSG00000177182						124	106	112					8																	62212557		2203	4300	6503	CLVS1	SO:0001819	synonymous_variant	0			-	HGNC	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.171G>A	8.37:g.62212557G>A		Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	16.67	B2R7M5|C8UZT3|Q8NB32	Silent	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R57	ENST00000519846.1	37	c.171	CCDS6176.1	8																																																																																			-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom		0.473	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	protein_coding	OTTHUMT00000378323.1	G	NM_173519	-		62212557	1	no_errors	ENST00000325897	ensembl	human	known	74_37	silent	SNP	1.000	A	A	62212557	G	A	62212557	2	1	102	1	0	0	0	0	0	0	0	1	3573	1223	43	2		2	CLVS1	8	62212557	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	119	62212557	84151465	313	6223											
ZFHX4	79776	genome.wustl.edu	37	chr8	77766189	77766189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagatgatgatgcccaAgatgaaagccaaacagaaga	11	6	0	8			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:77766189A>G	ENST00000521891.2	+	10	7480	c.7032A>G	c.(7030-7032)caA>caG	p.Q2344Q	ZFHX4_ENST00000518282.1_Silent_p.Q2318Q|ZFHX4_ENST00000050961.6_Silent_p.Q2299Q|ZFHX4_ENST00000455469.2_Silent_p.Q2299Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2299					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)			ATGATGCCCAAGATGAAAGCC	0.443										HNSCC(33;0.089)																																							0								ENSG00000091656						190	181	184					8																	77766189		2050	4205	6255	ZFHX4	SO:0001819	synonymous_variant	0			-	HGNC		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.7032A>G	8.37:g.77766189A>G		Somatic	0	25	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	G3V138|Q18PS0|Q6ZN20	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Q2344	ENST00000521891.2	37	c.7032	CCDS47878.2	8																																																																																			-	NULL		0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	A	NM_024721	-		77766189	1	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	SNP	0.996	G	G	77766189	A	G	77766189	2	3	102	1	0	0	0	0	0	0	0	1	17642	69	3	5		5	ZFHX4	8	77766189	Silent	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	15553632	77766189	68597833	314	6224											
SLC26A7	115111	genome.wustl.edu	37	chr8	92261935	92261935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagcaagatgcatacccCccagtgtgaagacattatac	9	10	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:92261935C>T	ENST00000276609.3	+	2	295	c.56C>T	c.(55-57)cCc>cTc	p.P19L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P19L|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P19L	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATGCATACCCCCCAGTGTGAA	0.408																																																	0								ENSG00000147606						126	110	115					8																	92261935		2203	4300	6503	SLC26A7	SO:0001583	missense	0			-	HGNC	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.56C>T	8.37:g.92261935C>T	ENSP00000276609:p.Pro19Leu	Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29		Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.P19L	ENST00000276609.3	37	c.56	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302822	0.01353	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.92299	-2.75;-3.01;-3.01;-3.01	5.55	3.52	0.40303	.	0.484251	0.20600	N	0.089161	D	0.83326	0.5230	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.70163	-0.4947	10	0.36615	T	0.2	.	4.3348	0.11081	0.0:0.6195:0.0:0.3805	.	19;19	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	L	19	ENSP00000428881:P19L;ENSP00000428849:P19L;ENSP00000276609:P19L;ENSP00000309504:P19L	ENSP00000276609:P19L	P	+	2	0	SLC26A7	92331111	0.000000	0.05858	0.015000	0.15790	0.698000	0.40448	0.823000	0.27366	1.350000	0.45770	-0.252000	0.11476	CCC	-	NULL		0.408	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	protein_coding	OTTHUMT00000377011.1	C		-		92261935	1	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	SNP	0.005	T	T	92261935	C	T	92261935	3	4	102	1	0	0	0	0	1	0	0	0	14530	623	22	2	58	2	SLC26A7	8	92261935	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	14495746	92261935	54102087	315	6225											
TP53INP1	94241	genome.wustl.edu	37	chr8	95952344	95952344	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtatcagccaagcactcaaGagatgccggtaaacaggaaa	10	9	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:95952344G>A	ENST00000342697.4	-	3	624	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	TP53INP1_ENST00000378776.4_Missense_Mutation_p.L73F|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.L73F	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	73					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAGCACTCAAGAGATGCCGGT	0.478																																																	0								ENSG00000164938						107	114	111					8																	95952344		2203	4300	6503	TP53INP1	SO:0001583	missense	0			-	HGNC	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.217C>T	8.37:g.95952344G>A	ENSP00000344215:p.Leu73Phe	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	B2RCE5|Q969R9	Missense_Mutation	SNP							NULL	p.L73F	ENST00000342697.4	37	c.217	CCDS6265.1	8	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521105	0.44866	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.46063	0.88;0.88;0.88	6.17	2.29	0.28610	.	0.125892	0.53938	D	0.000053	T	0.26048	0.0635	L	0.35414	1.06	0.43688	D	0.996135	B;P	0.37207	0.145;0.587	B;B	0.37267	0.099;0.245	T	0.03296	-1.1051	10	0.18710	T	0.47	-21.9296	5.8019	0.18417	0.3725:0.0:0.5048:0.1227	.	73;73	Q96A56-2;Q96A56	.;T53I1_HUMAN	F	73	ENSP00000390063:L73F;ENSP00000344215:L73F;ENSP00000368052:L73F	ENSP00000344215:L73F	L	-	1	0	TP53INP1	96021520	0.995000	0.38212	0.982000	0.44146	0.987000	0.75469	0.565000	0.23578	0.446000	0.26666	0.655000	0.94253	CTT	-	NULL		0.478	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	protein_coding	OTTHUMT00000379818.1	G		-		95952344	-1	no_errors	ENST00000342697	ensembl	human	known	74_37	missense	SNP	0.972	A	A	95952344	G	A	95952344	3	1	102	1	0	0	0	0	1	0	0	0	16395	942	33	2	539	2	TP53INP1	8	95952344	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3690409	95952344	50411678	316	6226											
ODF1	4956	genome.wustl.edu	37	chr8	103573038	103573038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcccctgcaacccgTgcagcccatatgatccttgc	8	18	0	1	rs58232162|rs386728348		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:103573038T>A	ENST00000285402.3	+	2	835	c.679T>A	c.(679-681)Tgc>Agc	p.C227S	ODF1_ENST00000518835.1_Missense_Mutation_p.C20S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	227	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ctgcaacccgtgcagcccATA	0.542																																																	0								ENSG00000155087						60	73	69					8																	103573038		2187	4300	6487	ODF1	SO:0001583	missense	0			-	HGNC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.679T>A	8.37:g.103573038T>A	ENSP00000285402:p.Cys227Ser	Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	Q3SX72	Missense_Mutation	SNP							pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.C227S	ENST00000285402.3	37	c.679	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639490	0.29157	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.83163	-1.69;1.68	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000019	T	0.79701	0.4491	L	0.57536	1.79	0.29426	N	0.86024	P	0.41232	0.743	B	0.38056	0.264	T	0.80518	-0.1347	10	0.87932	D	0	-18.0492	12.0125	0.53295	0.0:0.0:0.0:1.0	.	227	Q14990	ODFP1_HUMAN	S	227;20	ENSP00000285402:C227S;ENSP00000430023:C20S	ENSP00000285402:C227S	C	+	1	0	ODF1	103642214	0.983000	0.35010	0.901000	0.35422	0.066000	0.16364	3.874000	0.56101	2.106000	0.64143	0.528000	0.53228	TGC	-	NULL		0.542	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	protein_coding	OTTHUMT00000379884.1	T		-		103573038	1	no_errors	ENST00000285402	ensembl	human	known	74_37	missense	SNP	0.552	A	A	103573038	T	A	103573038	3	1	102	1	0	0	0	0	1	0	0	0	10828	1696	59	5	685	5	ODF1	8	103573038	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	7620694	103573038	42790984	317	6227											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110474001	110474001	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttaaaaactgttttgaagGagaatttgctacacagacct	7	7	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:110474001G>A	ENST00000378402.5	+	48	7351	c.7247G>A	c.(7246-7248)gGa>gAa	p.G2416E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2416					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)			TGTTTTGAAGGAGAATTTGCT	0.353										HNSCC(38;0.096)																																							0								ENSG00000205038						50	49	49					8																	110474001		1909	4136	6045	PKHD1L1	SO:0001630	splice_region_variant	0			-	HGNC	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.7247-1G>A	8.37:g.110474001G>A		Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G2416E	ENST00000378402.5	37	c.7247	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561970	0.86335	.	.	ENSG00000205038	ENST00000378402	D	0.86297	-2.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92655	0.7666	M	0.82823	2.61	0.53005	D	0.999961	D	0.62365	0.991	P	0.58130	0.833	D	0.92750	0.6215	9	.	.	.	.	17.2064	0.86920	0.0:0.0:1.0:0.0	.	2416	Q86WI1	PKHL1_HUMAN	E	2416	ENSP00000367655:G2416E	.	G	+	2	0	PKHD1L1	110543177	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	8.378000	0.90144	2.664000	0.90586	0.650000	0.86243	GGA	-	NULL		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-	Missense_Mutation	110474001	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110474001	G	A	110474001	5	1	102	1	0	0	0	0	0	0	1	0	11974	1188	41	2	7437	2	PKHD1L1	8	110474001	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6900963	110474001	35890021	318	6228											
KCNV1	27012	genome.wustl.edu	37	chr8	110984547	110984547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcctcaacacctggaCaatgcgccccacgttctcca	8	17	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:110984547C>A	ENST00000524391.1	-	3	1963	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V311F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	311					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACACCTGGACAATGCGCCCC	0.527																																																	0								ENSG00000164794						88	76	80					8																	110984547		2203	4300	6503	KCNV1	SO:0001583	missense	0			-	HGNC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.931G>T	8.37:g.110984547C>A	ENSP00000435954:p.Val311Phe	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q9UHJ4	Missense_Mutation	SNP							pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.V311F	ENST00000524391.1	37	c.931	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352144	0.82132	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98362	-4.89;-4.89	5.95	5.95	0.96441	Ion transport (1);	0.127686	0.51477	D	0.000091	D	0.97701	0.9246	L	0.28649	0.875	0.58432	D	0.999999	D	0.63880	0.993	P	0.61070	0.883	D	0.96928	0.9679	10	0.27082	T	0.32	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	311	Q6PIU1	KCNV1_HUMAN	F	311;311;187	ENSP00000435954:V311F;ENSP00000297404:V311F	ENSP00000297404:V311F	V	-	1	0	KCNV1	111053723	1.000000	0.71417	0.978000	0.43139	0.917000	0.54804	4.890000	0.63178	2.817000	0.96982	0.563000	0.77884	GTC	-	pfam_Ion_trans_dom		0.527	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	protein_coding	OTTHUMT00000385525.1	C	NM_014379	-		110984547	-1	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110984547	C	A	110984547	3	1	102	1	0	0	0	0	1	0	0	0	8096	478	17	3	579	3	KCNV1	8	110984547	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	510546	110984547	35379475	319	6229											
CSMD3	114788	genome.wustl.edu	37	chr8	113299424	113299424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgaaattgctttcctgtCtagagccatggccgggagta	11	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:113299424C>T	ENST00000297405.5	-	58	9444	c.9200G>A	c.(9199-9201)aGa>aAa	p.R3067K	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2898K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2997K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3027K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3067	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						GCTTTCCTGTCTAGAGCCATG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						143	125	131					8																	113299424		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.9200G>A	8.37:g.113299424C>T	ENSP00000297405:p.Arg3067Lys	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R3067K	ENST00000297405.5	37	c.9200	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.122361	0.94429	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.123227	0.51477	D	0.000093	T	0.32194	0.0821	L	0.46157	1.445	0.53688	D	0.999973	B;B;P	0.36125	0.342;0.008;0.538	B;B;B	0.42495	0.237;0.1;0.389	T	0.02104	-1.1213	10	0.28530	T	0.3	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	2898;3067;3027	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3027;3067;2337;2898;2997	ENSP00000345799:R3027K;ENSP00000297405:R3067K;ENSP00000341558:R2337K;ENSP00000412263:R2898K;ENSP00000343124:R2997K	ENSP00000297405:R3067K	R	-	2	0	CSMD3	113368600	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.583000	0.82559	2.618000	0.88619	0.650000	0.86243	AGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113299424	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113299424	C	T	113299424	3	4	102	1	0	0	0	0	1	0	0	0	3948	913	32	2	1979	2	CSMD3	8	113299424	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2314877	113299424	33064598	320	6230											
CSMD3	114788	genome.wustl.edu	37	chr8	113694814	113694814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaaagttgtccccaaacCgccgtgcattgattggtatt	9	9	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:113694814C>T	ENST00000297405.5	-	16	2778	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R741Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R845Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R805Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	845	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						GTCCCCAAACCGCCGTGCATT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						103	103	103					8																	113694814		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.2534G>A	8.37:g.113694814C>T	ENSP00000297405:p.Arg845Gln	Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R845Q	ENST00000297405.5	37	c.2534	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.496907	0.96355	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.79387	0.4437	M	0.75150	2.29	0.39438	D	0.967197	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.76621	-0.2892	10	0.28530	T	0.3	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	741;845;805	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	805;845;185;741;845	ENSP00000345799:R805Q;ENSP00000297405:R845Q;ENSP00000341558:R185Q;ENSP00000412263:R741Q;ENSP00000343124:R845Q	ENSP00000297405:R845Q	R	-	2	0	CSMD3	113763990	1.000000	0.71417	0.760000	0.31359	0.997000	0.91878	7.818000	0.86416	2.623000	0.88846	0.650000	0.86243	CGG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113694814	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	0.974	T	T	113694814	C	T	113694814	3	4	102	1	0	0	0	0	1	0	0	0	3948	652	23	1	8813	1	CSMD3	8	113694814	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	395390	113694814	32669208	321	6231											
CSMD3	114788	genome.wustl.edu	37	chr8	114111130	114111130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgttatggtactcattagGaaaactagggctggatatga	11	4	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:114111130G>A	ENST00000297405.5	-	5	1016	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P258S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P258S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P218S|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	258	CUB 2. {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						TACTCATTAGGAAAACTAGGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						122	106	112					8																	114111130		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.772C>T	8.37:g.114111130G>A	ENSP00000297405:p.Pro258Ser	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P258S	ENST00000297405.5	37	c.772	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255464	0.80135	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.41	5.41	0.78517	CUB (5);	0.000000	0.64402	D	0.000001	T	0.76962	0.4061	M	0.92219	3.285	0.49915	D	0.999833	P;D;D;D	0.89917	0.545;1.0;0.998;1.0	B;D;D;D	0.91635	0.15;0.998;0.941;0.999	T	0.79596	-0.1738	10	0.41790	T	0.15	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	258;258;258;218	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	218;258;258;258	ENSP00000345799:P218S;ENSP00000297405:P258S;ENSP00000412263:P258S;ENSP00000343124:P258S	ENSP00000297405:P258S	P	-	1	0	CSMD3	114180306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.808000	0.99193	2.707000	0.92482	0.655000	0.94253	CCT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		114111130	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114111130	G	A	114111130	3	1	102	1	0	0	0	0	1	0	0	0	3948	1174	41	2	10619	2	CSMD3	8	114111130	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	416316	114111130	32252892	322	6232											
FER1L6	654463	genome.wustl.edu	37	chr8	124968283	124968283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaataaggcagagaaGgggttaatcctagccaacaa	11	6	0	2	rs374438333		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:124968283G>A	ENST00000522917.1	+	2	251	c.45G>A	c.(43-45)aaG>aaA	p.K15K	FER1L6_ENST00000399018.1_Silent_p.K15K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	15						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGCAGAGAAGGGGTTAATCC	0.478																																																	0								ENSG00000214814						55	56	56					8																	124968283		1931	4131	6062	FER1L6	SO:0001819	synonymous_variant	0			-	HGNC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.45G>A	8.37:g.124968283G>A		Somatic	0	34	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00		Silent	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.K15	ENST00000522917.1	37	c.45	CCDS43767.1	8																																																																																			-	NULL		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	G	NM_001039112	-		124968283	1	no_errors	ENST00000399018	ensembl	human	known	74_37	silent	SNP	0.999	A	A	124968283	G	A	124968283	2	1	102	1	0	0	0	0	0	0	0	1	5817	991	35	2		2	FER1L6	8	124968283	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	10857153	124968283	21395739	323	6233											
MYC	4609	genome.wustl.edu	37	chr8	128750683	128750683	+	Missense_Mutation	SNP	C	C	T													aattcgagctgctgcccaccCcgcccctgtcccctagccgc					rs121918685		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:128750683C>T	ENST00000259523.6	+	2	1380	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	MYC_ENST00000524013.1_Missense_Mutation_p.P73S|MYC_ENST00000377970.2_Missense_Mutation_p.P74S			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)	GCTGCCCACCCCGCCCCTGTC	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)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0								ENSG00000136997						17	20	19					8																	128750683		2203	4299	6502	MYC	SO:0001583	missense	0			-	HGNC		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.175C>T	8.37:g.128750683C>T	ENSP00000259523:p.Pro59Ser	Somatic	0	112	0	1567	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31	A8WFE7|P01107|Q14026	Missense_Mutation	SNP							pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.P74S	ENST00000259523.6	37	c.220		8	.	.	.	.	.	.	.	.	.	.	C	33	5.194300	0.94960	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.78	4.78	0.61160	Transcription regulator Myc, N-terminal (1);	0.049059	0.85682	D	0.000000	T	0.67344	0.2883	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72279	-0.4340	10	0.87932	D	0	-28.4733	17.3275	0.87253	0.0:1.0:0.0:0.0	.	59	P01106	MYC_HUMAN	S	59;73;74;73;40	ENSP00000259523:P59S;ENSP00000429441:P73S;ENSP00000367207:P74S;ENSP00000430235:P73S	ENSP00000259523:P59S	P	+	1	0	MYC	128819865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.654000	0.90174	0.561000	0.74099	CCG	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	protein_coding	OTTHUMT00000250278.1	C		-		128750683	1	no_errors	ENST00000377970	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128750683	C	T	128750683	3	4	102	1	0	0	0	0	1	0	0	0	10018	623	22	2	226	2	MYC	8	128750683	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3782400	128750683	17613339	324	6234	79	2									
MYC	4609	genome.wustl.edu	37	chr8	128750684	128750684	+	Missense_Mutation	SNP	C	C	T													attcgagctgctgcccacccCgcccctgtcccctagccgcc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	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)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0								ENSG00000136997						16	19	18					8																	128750684		2203	4299	6502	MYC	SO:0001583	missense	0			-	HGNC		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	Somatic	0	112	0	1567	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	46	40.26	A8WFE7|P01107|Q14026	Missense_Mutation	SNP							pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	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	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	protein_coding	OTTHUMT00000250278.1	C		-		128750684	1	no_errors	ENST00000377970	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128750684	C	T	128750684	3	4	102	1	0	0	0	0	1	0	0	0	10018	652	23	1	227	1	MYC	8	128750684	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	128750684	17613338	325	6235	79	2									
ADCY8	114	genome.wustl.edu	37	chr8	131833655	131833655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgatacctccttggtcCccaggaaatctctgttggaa	10	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:131833655C>T	ENST00000286355.5	-	13	4779	c.2687G>A	c.(2686-2688)gGg>gAg	p.G896E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G765E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	896					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCTTGGTCCCCAGGAAATC	0.458										HNSCC(32;0.087)																																							0								ENSG00000155897						86	70	75					8																	131833655		2203	4300	6503	ADCY8	SO:0001583	missense	0			-	HGNC	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2687G>A	8.37:g.131833655C>T	ENSP00000286355:p.Gly896Glu	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	25.71		Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G896E	ENST00000286355.5	37	c.2687	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931769	0.52866	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78595	-1.16;-1.19	5.92	5.92	0.95590	.	0.049918	0.85682	D	0.000000	T	0.66066	0.2752	L	0.34521	1.04	0.49213	D	0.99976	B;B	0.31837	0.038;0.342	B;B	0.27076	0.076;0.024	T	0.64394	-0.6418	10	0.02654	T	1	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	765;896	E7EVL1;P40145	.;ADCY8_HUMAN	E	896;765	ENSP00000286355:G896E;ENSP00000367161:G765E	ENSP00000286355:G896E	G	-	2	0	ADCY8	131902837	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.364000	0.79526	2.822000	0.97130	0.650000	0.86243	GGG	-	NULL		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	protein_coding	OTTHUMT00000380080.1	C		-		131833655	-1	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131833655	C	T	131833655	3	4	102	1	0	0	0	0	1	0	0	0	300	623	22	2	1092	2	ADCY8	8	131833655	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3082971	131833655	14530367	326	6236											
OC90	729330	genome.wustl.edu	37	chr8	133044234	133044234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacaaaagagcatctctcCaagctgtggcatcacctgca	8	13	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:133044234C>T	ENST00000443356.2	-	13	1059	c.973G>A	c.(973-975)Gga>Aga	p.G325R	OC90_ENST00000603859.1_Missense_Mutation_p.G309R|OC90_ENST00000262283.5_Missense_Mutation_p.G521R|OC90_ENST00000254627.3_Missense_Mutation_p.G309R			Q02509	OC90_HUMAN	otoconin 90	325	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCATCTCTCCAAGCTGTGGC	0.527																																																	0								ENSG00000258417						116	114	114					8																	133044234		2053	4213	6266	OC90	SO:0001583	missense	0			-	Uniprot_gn	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.973G>A	8.37:g.133044234C>T	ENSP00000390050:p.Gly325Arg	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B4DNG8	Missense_Mutation	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.G325R	ENST00000443356.2	37	c.973		8	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891571	0.91889	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26518	1.73;1.73;1.73	5.91	5.91	0.95273	Phospholipase A2 (3);	0.052142	0.85682	D	0.000000	T	0.48187	0.1486	L	0.51422	1.61	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.27502	-1.0072	10	0.54805	T	0.06	-16.9304	18.8623	0.92278	0.0:1.0:0.0:0.0	.	309;325	Q02509-2;Q02509	.;OC90_HUMAN	R	309;325;521	ENSP00000254627:G309R;ENSP00000390050:G325R;ENSP00000262283:G521R	ENSP00000254627:G309R	G	-	1	0	RP11-240B13.2;OC90	133113416	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	6.299000	0.72770	2.793000	0.96121	0.655000	0.94253	GGA	-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom		0.527	OC90-201	KNOWN	basic	protein_coding	OC90	protein_coding		C	NM_001080399	-		133044234	-1	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	SNP	0.998	T	T	133044234	C	T	133044234	3	4	102	1	0	0	0	0	1	0	0	0	10816	603	21	2	520	2	OC90	8	133044234	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1210579	133044234	13319788	327	6237											
SLA	6503	genome.wustl.edu	37	chr8	134050963	134050963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagcgggttctctgttcCctcggggtcctcctgcagtc	11	16	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:134050963C>T	ENST00000338087.5	-	9	1456	c.637G>A	c.(637-639)Gga>Aga	p.G213R	SLA_ENST00000517648.1_Missense_Mutation_p.G186R|SLA_ENST00000427060.2_Missense_Mutation_p.G253R|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.G105R|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.G230R|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	213	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTCTGTTCCCTCGGGGTCC	0.522																																																	0								ENSG00000155926						65	62	63					8																	134050963		2203	4300	6503	SLA	SO:0001583	missense	0			-	HGNC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.637G>A	8.37:g.134050963C>T	ENSP00000337548:p.Gly213Arg	Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP							pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.G253R	ENST00000338087.5	37	c.757	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261129	0.23051	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	T;T;T;T;T	0.77358	-1.09;-1.02;-1.04;1.23;2.46	5.81	5.81	0.92471	.	0.606330	0.17412	N	0.175142	T	0.74084	0.3670	L	0.56769	1.78	0.09310	N	0.999999	P;P;P;P	0.42735	0.744;0.788;0.788;0.788	B;B;B;B	0.36666	0.23;0.165;0.165;0.165	T	0.67673	-0.5610	10	0.21540	T	0.41	-9.2632	18.652	0.91433	0.0:1.0:0.0:0.0	.	186;213;213;213	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	R	213;253;230;105;186	ENSP00000337548:G213R;ENSP00000394049:G253R;ENSP00000378759:G230R;ENSP00000427928:G105R;ENSP00000428559:G186R	ENSP00000337548:G213R	G	-	1	0	SLA	134120145	0.062000	0.20869	0.034000	0.17996	0.013000	0.08279	1.548000	0.36201	2.746000	0.94184	0.655000	0.94253	GGA	-	NULL		0.522	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	protein_coding	OTTHUMT00000378771.1	C		-		134050963	-1	no_errors	ENST00000427060	ensembl	human	known	74_37	missense	SNP	0.124	T	T	134050963	C	T	134050963	3	4	102	1	0	0	0	0	1	0	0	0	14371	632	22	2	197	2	SLA	8	134050963	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1006729	134050963	12313059	328	6238											
PTK2	5747	genome.wustl.edu	37	chr8	141745469	141745469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattggtaatctttccccAttttcaattcgaccgattac	6	11	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:141745469A>C	ENST00000522684.1	-	22	2140	c.1911T>G	c.(1909-1911)aaT>aaG	p.N637K	PTK2_ENST00000538769.1_Missense_Mutation_p.N305K|PTK2_ENST00000519419.1_Missense_Mutation_p.N681K|PTK2_ENST00000340930.3_Missense_Mutation_p.N637K|PTK2_ENST00000517887.1_Missense_Mutation_p.N681K|PTK2_ENST00000521059.1_Missense_Mutation_p.N637K|PTK2_ENST00000535192.1_Missense_Mutation_p.N637K|PTK2_ENST00000395218.2_Missense_Mutation_p.N637K|MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000519465.1_Missense_Mutation_p.N265K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCTTTCCCCATTTTCAATTC	0.478																																																	0								ENSG00000169398						170	141	151					8																	141745469		2203	4300	6503	PTK2	SO:0001583	missense	0			-	HGNC	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1911T>G	8.37:g.141745469A>C	ENSP00000429911:p.Asn637Lys	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	85	13.27	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N637K	ENST00000522684.1	37	c.1911	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.98|11.98	1.801958|1.801958	0.31869|0.31869	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.81908|.	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55|.	5.51|5.51	0.415|0.415	0.16411|0.16411	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|.	T|T	0.27663|0.27663	0.0680|0.0680	N|N	0.03983|0.03983	-0.305|-0.305	0.53005|0.53005	D|D	0.999966|0.999966	D;D;D;D;D;D;D;B;B;B|.	0.76494|.	0.994;0.968;0.998;0.992;0.979;0.99;0.999;0.198;0.278;0.089|.	D;P;D;D;D;D;D;B;B;B|.	0.76071|.	0.963;0.831;0.987;0.943;0.962;0.923;0.955;0.108;0.413;0.113|.	T|T	0.04065|0.04065	-1.0980|-1.0980	10|5	0.49607|.	T|.	0.09|.	.|.	10.1223|10.1223	0.42627|0.42627	0.6161:0.0:0.3839:0.0|0.6161:0.0:0.3839:0.0	.|.	637;332;557;637;659;637;589;485;305;265|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	K|G	637;637;265;681;637;589;637;558;332;309;637;305;681;335;483|648	ENSP00000429911:N637K;ENSP00000438009:N637K;ENSP00000429170:N265K;ENSP00000429082:N681K;ENSP00000429474:N637K;ENSP00000378644:N637K;ENSP00000428492:N309K;ENSP00000341189:N637K;ENSP00000445742:N305K;ENSP00000429129:N681K;ENSP00000430603:N335K|.	ENSP00000341189:N637K|.	N|W	-|-	3|1	2|0	PTK2|PTK2	141814651|141814651	0.994000|0.994000	0.37717|0.37717	0.997000|0.997000	0.53966|0.53966	0.999000|0.999000	0.98932|0.98932	0.371000|0.371000	0.20450|0.20450	-0.145000|-0.145000	0.11294|0.11294	0.533000|0.533000	0.62120|0.62120	AAT|TGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.478	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	protein_coding	OTTHUMT00000378054.5	A	NM_005607	-		141745469	-1	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	SNP	0.997	C	C	141745469	A	C	141745469	3	2	102	1	0	0	0	0	1	0	0	0	12768	214	8	5	1291	5	PTK2	8	141745469	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	7694506	141745469	4618553	329	6239											
EPPK1	83481	genome.wustl.edu	37	chr8	144942969	144942969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgacagagtgccaccagctCccgccgcttgtcagcgccaa	10	18	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:144942969C>T	ENST00000525985.1	-	2	4524	c.4453G>A	c.(4453-4455)Gag>Aag	p.E1485K				P58107	EPIPL_HUMAN	epiplakin 1	1485						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACCAGCTCCCGCCGCTTG	0.662																																																	0								ENSG00000227184						22	26	25					8																	144942969		2178	4273	6451	EPPK1	SO:0001583	missense	0			-	HGNC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4453G>A	8.37:g.144942969C>T	ENSP00000436337:p.Glu1485Lys	Somatic	0	20	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q76E58|Q9NSU9	Missense_Mutation	SNP							pfam_Plectin_repeat,smart_Plectin_repeat	p.E1485K	ENST00000525985.1	37	c.4453		8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958037	0.73902	.	.	ENSG00000227184	ENST00000525985	T	0.71222	-0.55	4.39	4.39	0.52855	.	.	.	.	.	T	0.72439	0.3460	L	0.34521	1.04	0.33384	D	0.575214	D	0.67145	0.996	P	0.60415	0.874	T	0.74714	-0.3572	9	0.25106	T	0.35	.	14.5162	0.67821	0.0:1.0:0.0:0.0	.	1485	E9PPU0	.	K	1485	ENSP00000436337:E1485K	ENSP00000436337:E1485K	E	-	1	0	EPPK1	145014957	0.869000	0.29996	0.938000	0.37757	0.747000	0.42532	1.803000	0.38863	2.278000	0.76064	0.591000	0.81541	GAG	-	NULL		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	C	NM_031308	-		144942969	-1	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	SNP	0.997	T	T	144942969	C	T	144942969	3	4	102	1	0	0	0	0	1	0	0	0	5192	864	30	2	2813	2	EPPK1	8	144942969	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3197500	144942969	1421053	330	6240											
EPPK1	83481	genome.wustl.edu	37	chr8	144946231	144946231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgcctgtggccagctgGgcatccaagagccgcagtgc	14	15	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:144946231G>A	ENST00000525985.1	-	2	1262	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A				P58107	EPIPL_HUMAN	epiplakin 1	397						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGCTGGGCATCCAAGA	0.677																																																	0								ENSG00000227184						4	5	5					8																	144946231		1908	4001	5909	EPPK1	SO:0001819	synonymous_variant	0			-	HGNC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1191C>T	8.37:g.144946231G>A		Somatic	0	9	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	Q76E58|Q9NSU9	Silent	SNP							pfam_Plectin_repeat,smart_Plectin_repeat	p.A397	ENST00000525985.1	37	c.1191		8																																																																																			-	pfam_Plectin_repeat,smart_Plectin_repeat		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	G	NM_031308	-		144946231	-1	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	SNP	0.870	A	A	144946231	G	A	144946231	2	1	102	1	0	0	0	0	0	0	0	1	5192	1219	43	2		2	EPPK1	8	144946231	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3262	144946231	1417791	331	6241											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145659099	145659099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccagggactggccacagCcgtcccccagggggttcatg	15	14	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:145659099C>T	ENST00000409379.3	-	22	3460	c.3431G>A	c.(3430-3432)gGc>gAc	p.G1144D	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1144					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)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGGCCACAGCCGTCCCCCAG	0.662																																																	0								ENSG00000160949						31	37	35					8																	145659099		2202	4299	6501	TONSL	SO:0001583	missense	0			-	HGNC		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.3431G>A	8.37:g.145659099C>T	ENSP00000386239:p.Gly1144Asp	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1144D	ENST00000409379.3	37	c.3431	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	c	12.13	1.846780	0.32606	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.60171	0.21	5.2	4.33	0.51752	.	0.239273	0.41712	D	0.000825	T	0.51483	0.1677	L	0.46614	1.455	0.58432	D	0.999994	P	0.52577	0.954	B	0.41412	0.356	T	0.57757	-0.7756	10	0.72032	D	0.01	-20.6845	13.6599	0.62361	0.0:0.8436:0.1564:0.0	.	1144	Q96HA7	TONSL_HUMAN	D	1144;1143	ENSP00000386239:G1144D	ENSP00000386239:G1144D	G	-	2	0	TONSL	145629907	0.168000	0.22989	0.596000	0.28811	0.087000	0.18053	1.378000	0.34328	1.195000	0.43115	-0.467000	0.05162	GGC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	C	NM_013432	-		145659099	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	SNP	0.998	T	T	145659099	C	T	145659099	3	4	102	1	0	0	0	0	1	0	0	0	10384	739	26	2	725	2	NFKBIL2	8	145659099	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	712868	145659099	704923	332	6242											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145666390	145666390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgggaaagtctcctgCcttggagaagaggtccccta	12	12	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:145666390C>T	ENST00000409379.3	-	8	999	c.970G>A	c.(970-972)Gca>Aca	p.A324T	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	324					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)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AAGTCTCCTGCCTTGGAGAAG	0.642																																																	0								ENSG00000160949						97	94	95					8																	145666390		2203	4300	6503	TONSL	SO:0001583	missense	0			-	HGNC		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.970G>A	8.37:g.145666390C>T	ENSP00000386239:p.Ala324Thr	Somatic	0	139	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A324T	ENST00000409379.3	37	c.970	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641233	0.29157	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.77489	-1.1	5.45	4.49	0.54785	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181068	0.48286	D	0.000189	T	0.71736	0.3375	L	0.56769	1.78	0.27829	N	0.94153	P	0.42456	0.78	B	0.38106	0.265	T	0.66356	-0.5944	10	0.20046	T	0.44	-12.1521	14.52	0.67844	0.1567:0.8433:0.0:0.0	.	324	Q96HA7	TONSL_HUMAN	T	324	ENSP00000386239:A324T	ENSP00000386239:A324T	A	-	1	0	TONSL	145637198	0.992000	0.36948	0.993000	0.49108	0.506000	0.33950	2.684000	0.46951	2.570000	0.86706	0.561000	0.74099	GCA	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	C	NM_013432	-		145666390	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	SNP	0.988	T	T	145666390	C	T	145666390	3	4	102	1	0	0	0	0	1	0	0	0	10384	739	26	2	3242	2	NFKBIL2	8	145666390	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	7291	145666390	697632	333	6243											
DOCK8	81704	genome.wustl.edu	37	chr9	386421	386421	+	Frame_Shift_Del	DEL	A	A	-													cagccccaaggccagccagcAaaaaggtactgaagagagca							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:386421delA	ENST00000453981.1	+	23	2981	c.2869delA	c.(2869-2871)aaafs	p.K958fs	DOCK8_ENST00000382329.1_Frame_Shift_Del_p.K425fs|DOCK8_ENST00000382331.1_Frame_Shift_Del_p.K260fs|DOCK8_ENST00000432829.2_Frame_Shift_Del_p.K890fs|DOCK8_ENST00000469391.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	958					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)		GCCAGCCAGCAAAAAGGTACT	0.493											OREG0019067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000107099						108	94	98					9																	386421		2203	4300	6503	DOCK8	SO:0001589	frameshift_variant	0				HGNC	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	ENST00000453981.1:c.2869delA	9.37:g.386421delA	ENSP00000408464:p.Lys958fs	Somatic	0	37	0	587	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Del	DEL							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K958fs	ENST00000453981.1	37	c.2869	CCDS6440.2	9																																																																																			-	NULL		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	A	XM_036307			386421	1	no_errors	ENST00000453981	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	386421	A	-	386421	7	5	102	1	0	1	0	1	0	0	0	0	4695	131	5	0	2959	0	DOCK8	9	386421	Frame_Shift_Del	DEL	A	TCGA-DX-A8BP-01A-11D-A37C-09		386421	140827010	334	6244											
FREM1	158326	genome.wustl.edu	37	chr9	14759900	14759900	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccacttcagttccaaaCtgtgtgtgaaaggaaaagag	11	7	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:14759900C>T	ENST00000380880.3	-	28	5988		c.e28-1		FREM1_ENST00000486223.1_Splice_Site|FREM1_ENST00000380881.4_Splice_Site|FREM1_ENST00000380894.1_Splice_Site|FREM1_ENST00000422223.2_Splice_Site			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1						cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGTTCCAAACTGTGTGTGAA	0.413																																																	0								ENSG00000164946						114	105	108					9																	14759900		1873	4104	5977	FREM1	SO:0001630	splice_region_variant	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5205-1G>A	9.37:g.14759900C>T		Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Splice_Site	SNP							-	e27-1	ENST00000380880.3	37	c.5208-1	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085308	0.76642	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FREM1	14749900	1.000000	0.71417	0.895000	0.35142	0.917000	0.54804	5.179000	0.65043	2.777000	0.95525	0.655000	0.94253	.	-	-		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	C	NM_144966	-	Intron	14759900	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	splice_site	SNP	0.997	T	T	14759900	C	T	14759900	5	4	102	1	0	0	0	0	0	0	1	0	6046	579	20	2	1375	2	FREM1	9	14759900	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	14373479	14759900	126453531	335	6245											
FREM1	158326	genome.wustl.edu	37	chr9	14823256	14823256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagaaaatgtgaactggaCatctctgcaatggggaccaa	11	8	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:14823256C>A	ENST00000380880.3	-	13	3022	c.2239G>T	c.(2239-2241)Gtc>Ttc	p.V747F	FREM1_ENST00000380881.4_Missense_Mutation_p.V748F|FREM1_ENST00000422223.2_Missense_Mutation_p.V747F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	747					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTGAACTGGACATCTCTGCAA	0.458																																																	0								ENSG00000164946						204	194	197					9																	14823256		1944	4146	6090	FREM1	SO:0001583	missense	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2239G>T	9.37:g.14823256C>A	ENSP00000370262:p.Val747Phe	Somatic	0	83	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.V748F	ENST00000380880.3	37	c.2242	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046209	0.36085	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29397	1.57;1.57;1.57	5.5	4.61	0.57282	.	0.102747	0.64402	D	0.000003	T	0.45975	0.1369	M	0.80183	2.485	0.45330	D	0.998329	P	0.42556	0.783	P	0.48654	0.585	T	0.51545	-0.8692	10	0.72032	D	0.01	-15.1691	11.9002	0.52680	0.0:0.8587:0.0:0.1413	.	747	Q5H8C1	FREM1_HUMAN	F	748;747;747	ENSP00000370263:V748F;ENSP00000412940:V747F;ENSP00000370262:V747F	ENSP00000370257:V750F	V	-	1	0	FREM1	14813256	0.837000	0.29446	0.573000	0.28510	0.026000	0.11368	1.496000	0.35638	1.457000	0.47850	-0.244000	0.11960	GTC	-	NULL		0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	C	NM_144966	-		14823256	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	SNP	0.916	A	A	14823256	C	A	14823256	3	1	102	1	0	0	0	0	1	0	0	0	6046	478	17	3	4450	3	FREM1	9	14823256	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	63356	14823256	126390175	336	6246											
C9orf72	203228	genome.wustl.edu	37	chr9	27566980	27566980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtacctgttctgtctttgGagcccaaatgtgccttactc	8	11	2	0	rs181815263		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:27566980G>A	ENST00000380003.3	-	2	202	c.139C>T	c.(139-141)Cca>Tca	p.P47S	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.P47S	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	47					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TCTGTCTTTGGAGCCCAAATG	0.413																																																	0								ENSG00000147894						108	98	102					9																	27566980		2203	4300	6503	C9orf72	SO:0001583	missense	0			-	HGNC	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.139C>T	9.37:g.27566980G>A	ENSP00000369339:p.Pro47Ser	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP							NULL	p.P47S	ENST00000380003.3	37	c.139	CCDS6522.1	9	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217552	0.58560	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.42900	0.97;0.96;0.96	5.99	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	N	0.24115	0.695	0.80722	D	1	D;B	0.89917	1.0;0.112	D;B	0.83275	0.996;0.099	T	0.47045	-0.9147	9	.	.	.	.	15.241	0.73471	0.0669:0.0:0.9331:0.0	.	47;47	Q96LT7-2;Q96LT7	.;CI072_HUMAN	S	47	ENSP00000369339:P47S;ENSP00000369333:P47S;ENSP00000369331:P47S	.	P	-	1	0	C9orf72	27556980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.540000	0.49301	0.655000	0.94253	CCA	-	NULL		0.413	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	protein_coding	OTTHUMT00000051969.1	G	NM_018325	-		27566980	-1	no_errors	ENST00000380003	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27566980	G	A	27566980	3	1	102	1	0	0	0	0	1	0	0	0	2497	1174	41	2	1350	2	C9orf72	9	27566980	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12743724	27566980	113646451	337	6247											
PRUNE2	158471	genome.wustl.edu	37	chr9	79320442	79320442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagctgtctgatatccAagaaccgtcaccttctggag	9	10	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:79320442A>G	ENST00000376718.3	-	8	6871	c.6748T>C	c.(6748-6750)Tgg>Cgg	p.W2250R	PRUNE2_ENST00000428286.1_Missense_Mutation_p.W1891R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2250					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGATATCCAAGAACCGTCA	0.438																																																	0								ENSG00000106772						55	52	53					9																	79320442		1568	3582	5150	PRUNE2	SO:0001583	missense	0			-	HGNC	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.6748T>C	9.37:g.79320442A>G	ENSP00000365908:p.Trp2250Arg	Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP							pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.W1891R	ENST00000376718.3	37	c.5671	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.822|4.822	0.152737|0.152737	0.09185|0.09185	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.43294	.|0.95;0.95	5.92|5.92	2.26|2.26	0.28386|0.28386	.|.	.|0.781385	.|0.11661	.|N	.|0.541788	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.14805	.|0.011	.|B	.|0.06405	.|0.002	T|T	0.29274|0.29274	-1.0017|-1.0017	5|10	.|0.62326	.|D	.|0.03	0.0355|0.0355	5.6958|5.6958	0.17855|0.17855	0.6605:0.1344:0.2051:0.0|0.6605:0.1344:0.2051:0.0	.|.	.|2250	.|Q8WUY3	.|PRUN2_HUMAN	S|R	1571|2250;1891;2249	.|ENSP00000365908:W2250R;ENSP00000397425:W1891R	.|ENSP00000365908:W2250R	L|W	-|-	2|1	0|0	PRUNE2|PRUNE2	78510262|78510262	0.017000|0.017000	0.18338|0.18338	0.006000|0.006000	0.13384|0.13384	0.036000|0.036000	0.12997|0.12997	0.848000|0.848000	0.27710|0.27710	0.459000|0.459000	0.27016|0.27016	0.533000|0.533000	0.62120|0.62120	TTG|TGG	-	NULL		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	A	NM_138818	-		79320442	-1	no_errors	ENST00000428286	ensembl	human	known	74_37	missense	SNP	0.002	G	G	79320442	A	G	79320442	3	3	102	1	0	0	0	0	1	0	0	0	12646	130	5	5	2566	5	PRUNE2	9	79320442	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	51753462	79320442	61892989	338	6248											
FLJ46321	389763	genome.wustl.edu	37	chr9	84606023	84606023	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccttagctgacttattttCaccctcaccactgagggacc	6	15	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:84606023C>T	ENST00000344803.2	+	4	685	c.638C>T	c.(637-639)tCa>tTa	p.S213L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	213	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACTTATTTTCACCCTCACCA	0.552																																																	0								ENSG00000214929						88	86	87					9																	84606023		1839	4085	5924	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.638C>T	9.37:g.84606023C>T	ENSP00000341988:p.Ser213Leu	Somatic	0	133	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64		Missense_Mutation	SNP							NULL	p.S213L	ENST00000344803.2	37	c.638	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994598	0.19043	.	.	ENSG00000214929	ENST00000344803	T	0.08458	3.09	3.01	1.11	0.20524	.	0.702099	0.11785	N	0.529749	T	0.08358	0.0208	L	0.49350	1.555	0.09310	N	1	B	0.31459	0.324	B	0.31614	0.133	T	0.30327	-0.9982	10	0.66056	D	0.02	-1.7566	5.1519	0.15015	0.0:0.7147:0.0:0.2853	.	213	Q6ZQQ2	F75D1_HUMAN	L	213	ENSP00000341988:S213L	ENSP00000341988:S213L	S	+	2	0	FAM75D1	83795843	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.536000	0.23129	0.325000	0.23359	-0.145000	0.13849	TCA	-	NULL		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	C	NM_001001670	-		84606023	1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.002	T	T	84606023	C	T	84606023	3	4	102	1	0	0	0	0	1	0	0	0	5934	838	29	2	652	2	FLJ46321	9	84606023	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5285581	84606023	56607408	339	6249											
RASEF	158158	genome.wustl.edu	37	chr9	85613338	85613338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctccatccacaatgaGggttttcatttggaaatcaa	7	9	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:85613338G>A	ENST00000376447.3	-	13	2007	c.1747C>T	c.(1747-1749)Ctc>Ttc	p.L583F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	583					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCACAATGAGGGTTTTCATT	0.453																																																	0								ENSG00000165105						167	157	160					9																	85613338		2203	4300	6503	RASEF	SO:0001583	missense	0			-	HGNC	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1747C>T	9.37:g.85613338G>A	ENSP00000365630:p.Leu583Phe	Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A6NC29|Q96N04	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.L583F	ENST00000376447.3	37	c.1747	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515617	0.85389	.	.	ENSG00000165105	ENST00000376447	T	0.80653	-1.4	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.071549	0.56097	D	0.000031	D	0.83128	0.5187	L	0.49778	1.585	0.80722	D	1	D	0.55800	0.973	P	0.57152	0.814	T	0.82631	-0.0362	10	0.45353	T	0.12	.	11.7629	0.51914	0.0813:0.0:0.9187:0.0	.	583	Q8IZ41	RASEF_HUMAN	F	583	ENSP00000365630:L583F	ENSP00000365630:L583F	L	-	1	0	RASEF	84803158	1.000000	0.71417	0.421000	0.26609	0.955000	0.61496	4.798000	0.62510	2.614000	0.88457	0.655000	0.94253	CTC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.453	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	protein_coding	OTTHUMT00000052825.1	G	NM_152573	-		85613338	-1	no_errors	ENST00000376447	ensembl	human	known	74_37	missense	SNP	0.993	A	A	85613338	G	A	85613338	3	1	102	1	0	0	0	0	1	0	0	0	13076	1000	35	2	495	2	RASEF	9	85613338	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1007315	85613338	55600093	340	6250											
GOLM1	51280	genome.wustl.edu	37	chr9	88655783	88655783	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgattgatgcactggctCctttggtgaaagaaagcaaa	10	7	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:88655783C>T	ENST00000388712.3	-	6	636	c.468G>A	c.(466-468)ctG>ctA	p.L156L	GOLM1_ENST00000388711.3_Splice_Site_p.L156L|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	156					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TGCACTGGCTCCTTTGGTGAA	0.502																																																	0								ENSG00000135052						201	170	181					9																	88655783		2203	4300	6503	GOLM1	SO:0001630	splice_region_variant	0			-	HGNC	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.468-1G>A	9.37:g.88655783C>T		Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21	Q6IAF4|Q9NRB9	Silent	SNP							NULL	p.L156	ENST00000388712.3	37	c.468	CCDS35054.1	9																																																																																			-	NULL		0.502	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	protein_coding	OTTHUMT00000052904.2	C	NM_177937	-	Silent	88655783	-1	no_errors	ENST00000388711	ensembl	human	known	74_37	silent	SNP	1.000	T	T	88655783	C	T	88655783	5	4	102	1	0	0	0	0	0	0	1	0	6569	869	30	2	757	2	GOLM1	9	88655783	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3042445	88655783	52557648	341	6251											
PTPDC1	138639	genome.wustl.edu	37	chr9	96860235	96860235	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaacctcctggagcaagggGagactccacagacagtgcct	12	12	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:96860235G>T	ENST00000375360.3	+	7	1565	c.1225G>T	c.(1225-1227)Gag>Tag	p.E409*	PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.E461*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	409					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGAGCAAGGGGAGACTCCACA	0.542																																																	0								ENSG00000158079						55	54	54					9																	96860235		2203	4300	6503	PTPDC1	SO:0001587	stop_gained	0			-	HGNC	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1225G>T	9.37:g.96860235G>T	ENSP00000364509:p.Glu409*	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Nonsense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.E409*	ENST00000375360.3	37	c.1225	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	21.5	4.164773	0.78339	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	5.76	3.83	0.44106	.	0.687468	0.15692	N	0.249388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.4225	11.43	0.50034	0.1513:0.0:0.8487:0.0	.	.	.	.	X	409;461	.	ENSP00000288976:E461X	E	+	1	0	PTPDC1	95900056	1.000000	0.71417	0.004000	0.12327	0.271000	0.26615	2.938000	0.48987	0.695000	0.31675	0.655000	0.94253	GAG	-	NULL		0.542	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	protein_coding	OTTHUMT00000215007.1	G	NM_177995, NM_152422	-		96860235	1	no_errors	ENST00000375360	ensembl	human	known	74_37	nonsense	SNP	0.427	T	T	96860235	G	T	96860235	4	4	102	1	0	0	0	0	0	1	0	0	12779	1175	41	3	1489	3	PTPDC1	9	96860235	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8204452	96860235	44353196	342	6252											
TSTD2	158427	genome.wustl.edu	37	chr9	100380134	100380134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagtaataaaggagcaCctccccttcttcactgccct	7	14	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:100380134C>T	ENST00000341170.4	-	4	890	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	TSTD2_ENST00000354801.2_De_novo_Start_OutOfFrame|TSTD2_ENST00000484708.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	170										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TAAAGGAGCACCTCCCCTTCT	0.488																																																	0								ENSG00000136925						131	107	115					9																	100380134		2203	4300	6503	TSTD2	SO:0001583	missense	0			-	HGNC	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.508G>A	9.37:g.100380134C>T	ENSP00000342499:p.Val170Met	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP							pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.V170M	ENST00000341170.4	37	c.508	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948813	0.73787	.	.	ENSG00000136925	ENST00000341170	T	0.49720	0.77	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79981	-0.1574	10	0.87932	D	0	-10.7675	17.9857	0.89155	0.0:1.0:0.0:0.0	.	170	Q5T7W7	TSTD2_HUMAN	M	170	ENSP00000342499:V170M	ENSP00000342499:V170M	V	-	1	0	TSTD2	99419955	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	6.227000	0.72282	2.651000	0.90000	0.455000	0.32223	GTG	-	NULL		0.488	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	protein_coding	OTTHUMT00000053325.4	C	NM_139246	-		100380134	-1	no_errors	ENST00000341170	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100380134	C	T	100380134	3	4	102	1	0	0	0	0	1	0	0	0	16682	507	18	2	1070	2	TSTD2	9	100380134	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3519899	100380134	40833297	343	6253											
GRIN3A	116443	genome.wustl.edu	37	chr9	104433107	104433107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccttcatcatctacctcCcttgtgaagacaaaaggatg	7	11	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:104433107C>T	ENST00000361820.3	-	3	2187	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	529					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CATCTACCTCCCTTGTGAAGA	0.498																																																	0								ENSG00000198785						173	152	159					9																	104433107		2203	4300	6503	GRIN3A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1587G>A	9.37:g.104433107C>T		Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.R529	ENST00000361820.3	37	c.1587	CCDS6758.1	9																																																																																			-	NULL		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	C		-		104433107	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	silent	SNP	0.660	T	T	104433107	C	T	104433107	2	4	102	1	0	0	0	0	0	0	0	1	6785	622	22	2		2	GRIN3A	9	104433107	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4052973	104433107	36780324	344	6254											
OR13C8	138802	genome.wustl.edu	37	chr9	107331952	107331952	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgcaatgcagttaccattCtgtgctaataatgtcattaa	6	7	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:107331952C>T	ENST00000335040.1	+	1	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGTTACCATTCTGTGCTAATA	0.448																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000186943						140	133	135					9																	107331952		2203	4300	6503	OR13C8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.504C>T	9.37:g.107331952C>T		Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	Q5VVG0|Q96R44	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000335040.1	37	c.504	CCDS35090.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	protein_coding	OTTHUMT00000053480.1	C		-		107331952	1	no_errors	ENST00000335040	ensembl	human	known	74_37	silent	SNP	0.999	T	T	107331952	C	T	107331952	2	4	102	1	0	0	0	0	0	0	0	1	10940	912	32	2		2	OR13C8	9	107331952	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2898845	107331952	33881479	345	6255											
SVEP1	79987	genome.wustl.edu	37	chr9	113166786	113166786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgaccatctttctgacAggtgaatgtatctgtatctg	9	10	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:113166786A>G	ENST00000401783.2	-	39	9823	c.9487T>C	c.(9487-9489)Tgt>Cgt	p.C3163R	SVEP1_ENST00000297826.5_Missense_Mutation_p.C1089R|SVEP1_ENST00000374469.1_Missense_Mutation_p.C3140R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3163	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTTTCTGACAGGTGAATGTA	0.408																																																	0								ENSG00000165124						260	249	253					9																	113166786		1882	4113	5995	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9487T>C	9.37:g.113166786A>G	ENSP00000384917:p.Cys3163Arg	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	11.54	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.C3163R	ENST00000401783.2	37	c.9487	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086886	0.76642	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.98090	-4.71;-4.71;-3.08	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98877	1.0768	10	0.72032	D	0.01	.	16.0645	0.80861	1.0:0.0:0.0:0.0	.	3163	Q4LDE5	SVEP1_HUMAN	R	3163;3140;1089	ENSP00000384917:C3163R;ENSP00000363593:C3140R;ENSP00000297826:C1089R	ENSP00000297826:C1089R	C	-	1	0	SVEP1	112206607	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.773000	0.85462	2.200000	0.70718	0.482000	0.46254	TGT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		A		-		113166786	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	1.000	G	G	113166786	A	G	113166786	3	3	102	1	0	0	0	0	1	0	0	0	15427	188	7	5	1268	5	SVEP1	9	113166786	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	5834834	113166786	28046645	346	6256											
ZNF483	158399	genome.wustl.edu	37	chr9	114296583	114296583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatttcccagctaaagtGggttgaattgccatggctgc	12	8	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:114296583G>A	ENST00000309235.5	+	5	829	c.671G>A	c.(670-672)tGg>tAg	p.W224*	ZNF483_ENST00000355824.3_Nonsense_Mutation_p.W224*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.W224*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	224	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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CAGCTAAAGTGGGTTGAATTG	0.388																																																	0								ENSG00000173258						97	102	100					9																	114296583		2203	4300	6503	ZNF483	SO:0001587	stop_gained	0			-	HGNC	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.671G>A	9.37:g.114296583G>A	ENSP00000311679:p.Trp224*	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.W224*	ENST00000309235.5	37	c.671	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138809	0.56936	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	.	.	.	4.59	4.59	0.56863	.	0.188722	0.26594	N	0.023519	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.0006	13.1327	0.59391	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000311679:W224X	W	+	2	0	ZNF483	113336404	1.000000	0.71417	0.965000	0.40720	0.010000	0.07245	1.095000	0.30964	2.563000	0.86464	0.650000	0.86243	TGG	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	protein_coding	OTTHUMT00000053641.1	G	XM_088567	-		114296583	1	no_errors	ENST00000309235	ensembl	human	known	74_37	nonsense	SNP	0.430	A	A	114296583	G	A	114296583	4	1	102	1	0	0	0	0	0	1	0	0	17943	1357	47	2	685	2	ZNF483	9	114296583	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1129797	114296583	26916848	347	6257											
C9orf84	158401	genome.wustl.edu	37	chr9	114476843	114476843	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatctccagctgtctccaaAtgtcacccaaataggggcct	7	14	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:114476843A>T	ENST00000318737.4	-	15	2233	c.2105T>A	c.(2104-2106)aTt>aAt	p.I702N	C9orf84_ENST00000374287.3_Missense_Mutation_p.I702N|C9orf84_ENST00000394777.4_Missense_Mutation_p.I628N|C9orf84_ENST00000394779.3_Missense_Mutation_p.I663N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	702										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGTCTCCAAATGTCACCCAA	0.358																																																	0								ENSG00000165181						108	103	105					9																	114476843		2203	4300	6503	C9orf84	SO:0001583	missense	0			-	HGNC	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2105T>A	9.37:g.114476843A>T	ENSP00000322108:p.Ile702Asn	Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP							superfamily_RuvA_2-like	p.I702N	ENST00000318737.4	37	c.2105	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884058	0.51908	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.12361	2.69;2.77;2.71;2.71	5.74	5.74	0.90152	.	0.117108	0.38720	N	0.001585	T	0.27454	0.0674	L	0.34521	1.04	0.40678	D	0.982275	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.961;0.961;0.961	T	0.02320	-1.1177	10	0.87932	D	0	-5.3497	16.0476	0.80731	1.0:0.0:0.0:0.0	.	628;702;663	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	N	663;628;316;702;702	ENSP00000378259:I663N;ENSP00000378257:I628N;ENSP00000363405:I702N;ENSP00000322108:I702N	ENSP00000322108:I702N	I	-	2	0	C9orf84	113516664	1.000000	0.71417	0.996000	0.52242	0.109000	0.19521	5.988000	0.70579	2.190000	0.69967	0.460000	0.39030	ATT	-	NULL		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	protein_coding	OTTHUMT00000053656.2	A	NM_173521	-		114476843	-1	no_errors	ENST00000318737	ensembl	human	known	74_37	missense	SNP	0.997	T	T	114476843	A	T	114476843	3	4	102	1	0	0	0	0	1	0	0	0	2502	101	4	5	2277	5	C9orf84	9	114476843	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	180260	114476843	26736588	348	6258											
ZNF618	114991	genome.wustl.edu	37	chr9	116812049	116812049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgccaccctaccagcacGaggagatcatcggcaaggtc	11	14	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:116812049G>A	ENST00000374126.5	+	15	2566	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.E730K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	823					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(4)|lung(10)|urinary_tract(1)	16						CTACCAGCACGAGGAGATCAT	0.642																																																	0								ENSG00000157657						52	59	57					9																	116812049		2046	4193	6239	ZNF618	SO:0001583	missense	0			-	HGNC	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2467G>A	9.37:g.116812049G>A	ENSP00000363241:p.Glu823Lys	Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP							superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E823K	ENST00000374126.5	37	c.2467		9	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715814	0.89112	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21031	2.03;2.03	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	.	.	.	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.80764	0.955;0.986;0.994	T	0.04115	-1.0976	9	0.22706	T	0.39	-33.515	19.0349	0.92972	0.0:0.0:1.0:0.0	.	790;823;730	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	K	823;730	ENSP00000363241:E823K;ENSP00000288466:E730K	ENSP00000288466:E730K	E	+	1	0	ZNF618	115851870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.100000	0.94213	2.815000	0.96918	0.561000	0.74099	GAG	-	superfamily_RNaseH-like_dom		0.642	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	protein_coding	OTTHUMT00000053749.1	G	XM_054983	-		116812049	1	no_errors	ENST00000374126	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116812049	G	A	116812049	3	1	102	1	0	0	0	0	1	0	0	0	18049	1059	37	1	2242	1	ZNF618	9	116812049	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2335206	116812049	24401382	349	6259											
AKNA	80709	genome.wustl.edu	37	chr9	117130751	117130751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgggggtcctcggccGggcccggccaccactctgca	15	17	1	0	rs368698649		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:117130751G>A	ENST00000307564.4	-	5	1702	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P433L|AKNA_ENST00000312033.3_Missense_Mutation_p.P514L|AKNA_ENST00000374088.3_Missense_Mutation_p.P514L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	514					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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)	p.P514L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCCTCGGCCGGGCCCGGCCA	0.662													g|||	1	0.000199681	0	0	5008	,	,		15805	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000106948	A	LEU/PRO	0,4404		0,0,2202	35	33	34		1541	4	0	9		34	1,8597		0,1,4298	no	missense	AKNA	NM_030767.4	98	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	514/1440	117130751	1,13001	2202	4299	6501	AKNA	SO:0001583	missense	0			-	HGNC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1541C>T	9.37:g.117130751G>A	ENSP00000303769:p.Pro514Leu	Somatic	0	114	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	63	20.99	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP							pfam_TF_AT-hook	p.P514L	ENST00000307564.4	37	c.1541	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	g	12.50	1.955847	0.34471	0.0	1.16E-4	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.37411	2.41;2.41;2.41;1.2	4.87	3.98	0.46160	.	0.545068	0.16949	N	0.192969	T	0.33206	0.0855	L	0.36672	1.1	0.21256	N	0.999748	D;B	0.58268	0.982;0.023	P;B	0.47102	0.537;0.007	T	0.12604	-1.0541	10	0.66056	D	0.02	-4.1785	9.206	0.37289	0.0978:0.0:0.9022:0.0	.	514;433	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	L	514;355;514;433;514	ENSP00000303769:P514L;ENSP00000363201:P514L;ENSP00000363188:P433L;ENSP00000309222:P514L	ENSP00000303769:P514L	P	-	2	0	AKNA	116170572	0.008000	0.16893	0.003000	0.11579	0.034000	0.12701	1.653000	0.37323	1.291000	0.44653	-0.119000	0.15052	CCG	-	NULL		0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	protein_coding	OTTHUMT00000053767.2	G	NM_030767	-		117130751	-1	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	SNP	0.003	A	A	117130751	G	A	117130751	3	1	102	1	0	0	0	0	1	0	0	0	463	1116	39	1	2850	1	AKNA	9	117130751	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	318702	117130751	24082680	350	6260											
PAPPA	5069	genome.wustl.edu	37	chr9	118969860	118969860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaacttggccatgggacaAggaggccctgatgcacttag	13	10	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:118969860A>C	ENST00000328252.3	+	3	1973	c.1604A>C	c.(1603-1605)aAg>aCg	p.K535T	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	535	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCATGGGACAAGGAGGCCCTG	0.428																																																	0								ENSG00000182752						72	67	69					9																	118969860		2203	4300	6503	PAPPA	SO:0001583	missense	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1604A>C	9.37:g.118969860A>C	ENSP00000330658:p.Lys535Thr	Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.K535T	ENST00000328252.3	37	c.1604	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	A	31	5.059935	0.93846	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02177	4.41	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00778	-1.1570	10	0.87932	D	0	-22.9769	16.6288	0.85011	1.0:0.0:0.0:0.0	.	77;535	E7EMD3;Q13219	.;PAPP1_HUMAN	T	535;77	ENSP00000330658:K535T	ENSP00000330658:K535T	K	+	2	0	PAPPA	118009681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.300000	0.96151	2.326000	0.78906	0.533000	0.62120	AAG	-	NULL		0.428	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	A	NM_002581	-		118969860	1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	SNP	1.000	C	C	118969860	A	C	118969860	3	2	102	1	0	0	0	0	1	0	0	0	11434	72	3	5	1614	5	PAPPA	9	118969860	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	1839109	118969860	22243571	351	6261											
ASTN2	23245	genome.wustl.edu	37	chr9	119739019	119739019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactgcgcacacacaggtgtCtgtgaacagggtcaggggca	14	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:119739019C>T	ENST00000313400.4	-	8	1737	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R495K|ASTN2_ENST00000373996.3_Missense_Mutation_p.R546K			O75129	ASTN2_HUMAN	astrotactin 2	546	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACACAGGTGTCTGTGAACAGG	0.502																																																	0								ENSG00000148219						112	90	97					9																	119739019		2203	4300	6503	ASTN2	SO:0001583	missense	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1637G>A	9.37:g.119739019C>T	ENSP00000314038:p.Arg546Lys	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	40	28.57	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.R546K	ENST00000313400.4	37	c.1637		9	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247868	0.10130	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.09255	3.19;3.19;3.0;3.19	5.81	1.99	0.26369	.	0.230686	0.42548	N	0.000696	T	0.04543	0.0124	N	0.03608	-0.345	0.33964	D	0.645969	B;B;B	0.19583	0.017;0.0;0.037	B;B;B	0.25140	0.005;0.0;0.058	T	0.39035	-0.9633	9	.	.	.	-4.4131	10.3642	0.44012	0.0:0.7449:0.0:0.2551	.	495;546;546	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	K	546;546;273;495	ENSP00000314038:R546K;ENSP00000363108:R546K;ENSP00000363098:R273K;ENSP00000354504:R495K	.	R	-	2	0	ASTN2	118778840	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	2.267000	0.43329	0.109000	0.17891	-0.781000	0.03364	AGA	-	NULL		0.502	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		C	NM_014010	-		119739019	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119739019	C	T	119739019	3	4	102	1	0	0	0	0	1	0	0	0	1065	913	32	2	2678	2	ASTN2	9	119739019	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	769159	119739019	21474412	352	6262											
GAPVD1	26130	genome.wustl.edu	37	chr9	128099320	128099320	+	Missense_Mutation	SNP	C	C	T													cccaccagctgacctctcctCcttctcagtcagagtctctg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:128099320C>T	ENST00000495955.1	+	16	2742	c.2452C>T	c.(2452-2454)Cct>Tct	p.P818S	GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P818S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P818S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P845S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P797S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P818S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P797S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	818					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GACCTCTCCTCCTTCTCAGTC	0.483																																																	0								ENSG00000165219						97	94	95					9																	128099320		2203	4300	6503	GAPVD1	SO:0001583	missense	0			-	HGNC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2452C>T	9.37:g.128099320C>T	ENSP00000419063:p.Pro818Ser	Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP							pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.P845S	ENST00000495955.1	37	c.2533		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664862|4.664862	0.88251|0.88251	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56819|0.56819	0.2011|0.2011	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B;B;D|.	0.71674|.	0.259;0.376;0.376;0.376;0.998|.	B;B;B;B;D|.	0.80764|.	0.048;0.104;0.104;0.104;0.994|.	T|T	0.47971|0.47971	-0.9075|-0.9075	9|5	0.10377|.	T|.	0.69|.	.|.	19.6516|19.6516	0.95815|0.95815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;797;818;845|.	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	GAPD1_HUMAN;.;.;.;.|.	S|F	818;845;818;797;818;818;818;797|654	.|.	ENSP00000297933:P818S|.	P|S	+|+	1|2	0|0	GAPVD1|GAPVD1	127139141|127139141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.089000|6.089000	0.71384|0.71384	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	NULL		0.483	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	C		-		128099320	1	no_errors	ENST00000394105	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128099320	C	T	128099320	3	4	102	1	0	0	0	0	1	0	0	0	6241	855	30	2	2587	2	GAPVD1	9	128099320	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8360301	128099320	13114111	353	6263	80	2									
GAPVD1	26130	genome.wustl.edu	37	chr9	128099321	128099321	+	Missense_Mutation	SNP	C	C	T													ccaccagctgacctctcctcCttctcagtcagagtctctgc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:128099321C>T	ENST00000495955.1	+	16	2743	c.2453C>T	c.(2452-2454)cCt>cTt	p.P818L	GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P818L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P818L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P845L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P797L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P818L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P797L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	818					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCTCTCCTCCTTCTCAGTCA	0.478																																																	0								ENSG00000165219						98	94	95					9																	128099321		2203	4300	6503	GAPVD1	SO:0001583	missense	0			-	HGNC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2453C>T	9.37:g.128099321C>T	ENSP00000419063:p.Pro818Leu	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP							pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.P845L	ENST00000495955.1	37	c.2534		9	.	.	.	.	.	.	.	.	.	.	C	36	5.612747	0.96637	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	N	0.24115	0.695	0.80722	D	1	P;D;D;D;D	0.89917	0.948;0.969;0.969;0.969;1.0	P;P;P;P;D	0.83275	0.666;0.821;0.821;0.821;0.996	T	0.68447	-0.5406	9	0.62326	D	0.03	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	818;818;797;818;845	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.	L	818;845;818;797;818;818;818;797	.	ENSP00000297933:P818L	P	+	2	0	GAPVD1	127139142	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CCT	-	NULL		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	C		-		128099321	1	no_errors	ENST00000394105	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128099321	C	T	128099321	3	4	102	1	0	0	0	0	1	0	0	0	6241	681	24	2	2588	2	GAPVD1	9	128099321	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	128099321	13114110	354	6264	80	2									
DPM2	8818	genome.wustl.edu	37	chr9	130698047	130698047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtcttcagcatcacatagGagatgaacagtcctgggata	11	8	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:130698047G>A	ENST00000314392.8	-	4	872	c.209C>T	c.(208-210)tCc>tTc	p.S70F	RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	70					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						CATCACATAGGAGATGAACAG	0.572																																																	0								ENSG00000136908						125	106	112					9																	130698047		2203	4300	6503	DPM2	SO:0001583	missense	0			-	HGNC	AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.209C>T	9.37:g.130698047G>A	ENSP00000322181:p.Ser70Phe	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q5XKK9|Q6FGH3	Missense_Mutation	SNP							pfam_DPM2	p.S70F	ENST00000314392.8	37	c.209	CCDS6886.1	9	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388201	0.42308	.	.	ENSG00000136908	ENST00000314392	T	0.76578	-1.03	5.26	1.3	0.21679	.	.	.	.	.	T	0.66446	0.2790	.	.	.	0.80722	D	1	B	0.22909	0.077	B	0.24394	0.053	T	0.58819	-0.7569	8	0.87932	D	0	.	4.9765	0.14144	0.2584:0.1524:0.5892:0.0	.	70	O94777	DPM2_HUMAN	F	70	ENSP00000322181:S70F	ENSP00000322181:S70F	S	-	2	0	DPM2	129737868	1.000000	0.71417	0.956000	0.39512	0.901000	0.52897	1.671000	0.37513	0.037000	0.15575	0.561000	0.74099	TCC	-	pfam_DPM2		0.572	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM2	protein_coding	OTTHUMT00000054324.1	G	NM_003863	-		130698047	-1	no_errors	ENST00000314392	ensembl	human	known	74_37	missense	SNP	0.960	A	A	130698047	G	A	130698047	3	1	102	1	0	0	0	0	1	0	0	0	4727	1174	41	2	49	2	DPM2	9	130698047	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2598726	130698047	10515384	355	6265											
SLC27A4	10999	genome.wustl.edu	37	chr9	131115740	131115740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgtccttcgtgtaccCcatccggttggtacgtgtca	9	14	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:131115740C>T	ENST00000300456.4	+	9	1361	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	415					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCGTGTACCCCATCCGGTTG	0.627																																					Pancreas(107;1554 2241 10946 12953)												0								ENSG00000167114						101	91	94					9																	131115740		2203	4300	6503	SLC27A4	SO:0001583	missense	0			-	HGNC	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1244C>T	9.37:g.131115740C>T	ENSP00000300456:p.Pro415Leu	Somatic	0	114	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.P415L	ENST00000300456.4	37	c.1244	CCDS6899.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.672674	0.96754	.	.	ENSG00000167114	ENST00000300456	T	0.49139	0.79	5.9	5.9	0.94986	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78991	-0.1985	10	0.72032	D	0.01	-36.9078	19.2671	0.93993	0.0:1.0:0.0:0.0	.	415	Q6P1M0	S27A4_HUMAN	L	415	ENSP00000300456:P415L	ENSP00000300456:P415L	P	+	2	0	SLC27A4	130155561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.482000	0.81143	2.788000	0.95919	0.650000	0.86243	CCC	-	pfam_AMP-dep_Synth/Lig		0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	protein_coding	OTTHUMT00000054432.2	C		-		131115740	1	no_errors	ENST00000300456	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131115740	C	T	131115740	3	4	102	1	0	0	0	0	1	0	0	0	14536	623	22	2	1274	2	SLC27A4	9	131115740	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	417693	131115740	10097691	356	6266											
SH3GLB2	56904	genome.wustl.edu	37	chr9	131774519	131774519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggggtgcgcttaccgcgGaggcgctggccgagagaatg	20	9	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:131774519G>A	ENST00000372564.3	-	6	765	c.620C>T	c.(619-621)tCc>tTc	p.S207F	SH3GLB2_ENST00000372559.1_Missense_Mutation_p.S207F|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.S207F|SH3GLB2_ENST00000416629.1_Intron|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.S211F	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	207	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GCTTACCGCGGAGGCGCTGGC	0.632																																																	0								ENSG00000148341						41	33	36					9																	131774519		2193	4284	6477	SH3GLB2	SO:0001583	missense	0			-	HGNC	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.620C>T	9.37:g.131774519G>A	ENSP00000361645:p.Ser207Phe	Somatic	1	160	0.62		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	116	15.33	A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP							pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.S211F	ENST00000372564.3	37	c.632	CCDS6916.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.418129	0.96092	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224	T;T;T;T	0.18810	2.19;2.19;2.2;2.22	5.81	5.81	0.92471	BAR (3);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.70595	2.14	0.80722	D	1	P;P	0.38767	0.646;0.642	P;B	0.45037	0.467;0.394	T	0.07947	-1.0746	10	0.06099	T	0.92	-0.488	19.0707	0.93134	0.0:0.0:1.0:0.0	.	211;207	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	F	207;207;211;211;207	ENSP00000361645:S207F;ENSP00000361640:S207F;ENSP00000361634:S211F;ENSP00000402566:S207F	ENSP00000361634:S211F	S	-	2	0	SH3GLB2	130814340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.863000	0.99569	2.746000	0.94184	0.655000	0.94253	TCC	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom		0.632	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB2	protein_coding	OTTHUMT00000054535.2	G		-		131774519	-1	no_errors	ENST00000372554	ensembl	human	known	74_37	missense	SNP	1.000	A	A	131774519	G	A	131774519	3	1	102	1	0	0	0	0	1	0	0	0	14262	1174	41	2	591	2	SH3GLB2	9	131774519	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	658779	131774519	9438912	357	6267											
TOR1A	1861	genome.wustl.edu	37	chr9	132576327	132576327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaactctctcctctttgGggaaaaatgtcatctcctca	6	11	5	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:132576327G>A	ENST00000351698.4	-	5	971	c.923C>T	c.(922-924)cCc>cTc	p.P308L		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	308	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CTCCTCTTTGGGGAAAAATGT	0.428																																																	0								ENSG00000136827						179	171	174					9																	132576327		2203	4300	6503	TOR1A	SO:0001583	missense	0			-	HGNC	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.923C>T	9.37:g.132576327G>A	ENSP00000345719:p.Pro308Leu	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP							pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.P308L	ENST00000351698.4	37	c.923	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.113853	0.94339	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88930	0.3372	10	0.87932	D	0	-16.9123	17.8532	0.88754	0.0:0.0:1.0:0.0	.	308	O14656	TOR1A_HUMAN	L	277;308	ENSP00000345719:P308L	ENSP00000345719:P308L	P	-	2	0	TOR1A	131616148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.439000	0.82584	0.561000	0.74099	CCC	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr		0.428	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	protein_coding	OTTHUMT00000054611.1	G	NM_000113	-		132576327	-1	no_errors	ENST00000351698	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132576327	G	A	132576327	3	1	102	1	0	0	0	0	1	0	0	0	16378	1232	43	2	79	2	TOR1A	9	132576327	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	801808	132576327	8637104	358	6268											
SETX	23064	genome.wustl.edu	37	chr9	135173522	135173522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaagtccatagggtttGgattcagaacagctctagcc	10	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:135173522G>A	ENST00000224140.5	-	13	5908	c.5726C>T	c.(5725-5727)cCa>cTa	p.P1909L	SETX_ENST00000393220.1_Missense_Mutation_p.P1909L|SETX_ENST00000372169.2_Missense_Mutation_p.P1909L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1909					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CATAGGGTTTGGATTCAGAAC	0.373																																																	0								ENSG00000107290						130	124	126					9																	135173522		2203	4300	6503	SETX	SO:0001583	missense	0			-	HGNC	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5726C>T	9.37:g.135173522G>A	ENSP00000224140:p.Pro1909Leu	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.P1909L	ENST00000224140.5	37	c.5726	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583139	0.86748	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91894	-2.5;-2.93;-2.57;-2.19	5.73	5.73	0.89815	.	0.162190	0.42964	D	0.000625	D	0.93946	0.8062	L	0.36672	1.1	0.80722	D	1	P;D;D	0.89917	0.528;1.0;1.0	P;D;D	0.91635	0.502;0.997;0.999	D	0.94463	0.7678	10	0.87932	D	0	.	16.6142	0.84902	0.0:0.0:1.0:0.0	.	1909;1909;1909	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1909;151;1909;1909	ENSP00000224140:P1909L;ENSP00000409143:P151L;ENSP00000361242:P1909L;ENSP00000376913:P1909L	ENSP00000224140:P1909L	P	-	2	0	SETX	134163343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.398000	0.66308	2.681000	0.91329	0.591000	0.81541	CCA	-	superfamily_P-loop_NTPase		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	protein_coding	OTTHUMT00000054774.3	G	NM_015046	-		135173522	-1	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135173522	G	A	135173522	3	1	102	1	0	0	0	0	1	0	0	0	14149	1348	47	2	2363	2	SETX	9	135173522	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2597195	135173522	6039909	359	6269											
QSOX2	169714	genome.wustl.edu	37	chr9	139113687	139113687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggtagatcaggtaacacGaagggactgaagaaacacca	12	7	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139113687G>A	ENST00000358701.5	-	6	813	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	259					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAGGTAACACGAAGGGACTGA	0.537																																																	0								ENSG00000165661						151	136	141					9																	139113687		2203	4300	6503	QSOX2	SO:0001583	missense	0			-	HGNC	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.776C>T	9.37:g.139113687G>A	ENSP00000351536:p.Ser259Leu	Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP							pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.S259L	ENST00000358701.5	37	c.776	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457901	0.43634	.	.	ENSG00000165661	ENST00000358701	T	0.19394	2.15	4.65	4.65	0.58169	.	0.269957	0.37348	N	0.002140	T	0.48840	0.1522	M	0.88181	2.935	0.49687	D	0.999815	D	0.76494	0.999	P	0.57776	0.827	T	0.61564	-0.7037	10	0.72032	D	0.01	-11.2387	16.9002	0.86110	0.0:0.0:1.0:0.0	.	259	Q6ZRP7	QSOX2_HUMAN	L	259	ENSP00000351536:S259L	ENSP00000351536:S259L	S	-	2	0	QSOX2	138253508	1.000000	0.71417	0.010000	0.14722	0.024000	0.10985	8.521000	0.90569	2.298000	0.77334	0.655000	0.94253	TCG	-	NULL		0.537	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	protein_coding	OTTHUMT00000055046.2	G	NM_181701	-		139113687	-1	no_errors	ENST00000358701	ensembl	human	known	74_37	missense	SNP	0.724	A	A	139113687	G	A	139113687	3	1	102	1	0	0	0	0	1	0	0	0	12892	1059	37	1	1348	1	QSOX2	9	139113687	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3940165	139113687	2099744	360	6270											
NOTCH1	4851	genome.wustl.edu	37	chr9	139407472	139407472	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccccacccacccctcaCctgtgtagggcagcaggcag	11	18	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139407472C>T	ENST00000277541.6	-	15	2543		c.e15+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						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)		CCACCCCTCACCTGTGTAGGG	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0								ENSG00000148400						48	44	45					9																	139407472		1962	4126	6088	NOTCH1	SO:0001630	splice_region_variant	0			-	HGNC	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.2467+1G>A	9.37:g.139407472C>T		Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	Q59ED8|Q5SXM3	Splice_Site	SNP							-	e15+1	ENST00000277541.6	37	c.2467+1	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170080	0.78452	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3474	0.83146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138527293	1.000000	0.71417	0.992000	0.48379	0.788000	0.44548	7.320000	0.79064	2.095000	0.63458	0.455000	0.32223	.	-	-		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	-	Intron	139407472	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	139407472	C	T	139407472	5	4	102	1	0	0	0	0	0	0	1	0	10549	521	18	2	5279	2	NOTCH1	9	139407472	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	293785	139407472	1805959	361	6271											
NOTCH1	4851	genome.wustl.edu	37	chr9	139417640	139417640	+	Splice_Site	SNP	C	C	A													cagcctgctggcacgatttcCctggagacaaggggacaaga							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139417640C>A	ENST00000277541.6	-	4	479	c.404G>T	c.(403-405)gGg>gTg	p.G135V	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	135	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GCACGATTTCCCTGGAGACAA	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0								ENSG00000148400						16	20	18					9																	139417640		2074	4187	6261	NOTCH1	SO:0001630	splice_region_variant	0			-	HGNC	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.404-1G>T	9.37:g.139417640C>A		Somatic	0	99	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	55	23.61	Q59ED8|Q5SXM3	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.G135V	ENST00000277541.6	37	c.404	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004123	0.74932	.	.	ENSG00000148400	ENST00000277541	D	0.99121	-5.45	5.17	5.17	0.71159	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97859	1.0279	10	0.87932	D	0	.	17.6469	0.88151	0.0:1.0:0.0:0.0	.	135	P46531	NOTC1_HUMAN	V	135	ENSP00000277541:G135V	ENSP00000277541:G135V	G	-	2	0	NOTCH1	138537461	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.552000	0.82192	2.394000	0.81467	0.561000	0.74099	GGG	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	-	Missense_Mutation	139417640	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139417640	C	A	139417640	5	1	102	1	0	0	0	0	0	0	1	0	10549	637	22	3	7387	3	NOTCH1	9	139417640	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	10168	139417640	1795791	362	6272	81	2									
NOTCH1	4851	genome.wustl.edu	37	chr9	139417641	139417641	+	Splice_Site	SNP	C	C	T													agcctgctggcacgatttccCtggagacaaggggacaagag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139417641C>T	ENST00000277541.6	-	4	479		c.e4-1		NOTCH1_ENST00000491649.1_Splice_Site	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						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)		CACGATTTCCCTGGAGACAAG	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0								ENSG00000148400						16	19	18					9																	139417641		2071	4188	6259	NOTCH1	SO:0001630	splice_region_variant	0			-	HGNC	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.404-1G>A	9.37:g.139417641C>T		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	56	23.29	Q59ED8|Q5SXM3	Splice_Site	SNP							-	e4-1	ENST00000277541.6	37	c.404-1	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822115	0.50739	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6469	0.88151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138537462	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	7.576000	0.82467	2.394000	0.81467	0.561000	0.74099	.	-	-		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	-	Intron	139417641	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	139417641	C	T	139417641	5	4	102	1	0	0	0	0	0	0	1	0	10549	695	24	2	7388	2	NOTCH1	9	139417641	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	139417641	1795790	363	6273	81	2									
UAP1L1	91373	genome.wustl.edu	37	chr9	139975207	139975207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaacgcagagccagcCgacagggacagtccccgcac	12	15	0	3	rs373573211		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139975207C>T	ENST00000409858.3	+	7	1277	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	UAP1L1_ENST00000360271.3_Silent_p.A292A	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	415							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGAGCCAGCCGACAGGGACA	0.667																																																	0								ENSG00000197355	C		0,4406		0,0,2203	65	68	67		1245	-8.2	0	9		67	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	UAP1L1	NM_207309.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		415/508	139975207	1,13003	2203	4299	6502	UAP1L1	SO:0001819	synonymous_variant	0			-	HGNC	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1245C>T	9.37:g.139975207C>T		Somatic	0	138	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	66	18.52	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP							pfam_UDPGP_trans	p.A415	ENST00000409858.3	37	c.1245	CCDS7028.2	9																																																																																			-	pfam_UDPGP_trans		0.667	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	protein_coding	OTTHUMT00000055216.2	C	XM_038063	-		139975207	1	no_errors	ENST00000409858	ensembl	human	known	74_37	silent	SNP	0.000	T	T	139975207	C	T	139975207	2	4	102	1	0	0	0	0	0	0	0	1	16833	639	23	1		1	UAP1L1	9	139975207	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	557566	139975207	1238224	364	6274											
ENTPD8	377841	genome.wustl.edu	37	chr9	140331643	140331643	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgccagccgtggcccccagGaacgtgggtgttttccgatg	14	12	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:140331643G>A	ENST00000472938.1	-	3	379	c.363C>T	c.(361-363)ttC>ttT	p.F121F	ENTPD8_ENST00000344119.2_Silent_p.F121F|ENTPD8_ENST00000371506.2_Silent_p.F121F			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	121					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGCCCCCAGGAACGTGGGTG	0.642																																																	0								ENSG00000188833						50	51	51					9																	140331643		2202	4300	6502	ENTPD8	SO:0001819	synonymous_variant	0			-	HGNC	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.363C>T	9.37:g.140331643G>A		Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	A2BG17|Q6UVZ0	Silent	SNP							pfam_GDA1_CD39_NTPase	p.F121	ENST00000472938.1	37	c.363	CCDS43913.1	9																																																																																			-	pfam_GDA1_CD39_NTPase		0.642	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	protein_coding	OTTHUMT00000355991.1	G	NM_198585	-		140331643	-1	no_errors	ENST00000371506	ensembl	human	known	74_37	silent	SNP	1.000	A	A	140331643	G	A	140331643	2	1	102	1	0	0	0	0	0	0	0	1	5147	1165	41	2		2	ENTPD8	9	140331643	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	356436	140331643	881788	365	6275											
ITIH2	3698	genome.wustl.edu	37	chr10	7762847	7762847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggttatcgaaccacaggGactgagatttcttcatgttc	11	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:7762847G>A	ENST00000358415.4	+	7	825	c.659G>A	c.(658-660)gGa>gAa	p.G220E	ITIH2_ENST00000379587.4_Missense_Mutation_p.G209E|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	220					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						GAACCACAGGGACTGAGATTT	0.403																																																	0								ENSG00000151655						154	133	140					10																	7762847		2203	4300	6503	ITIH2	SO:0001583	missense	0			-	HGNC	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.659G>A	10.37:g.7762847G>A	ENSP00000351190:p.Gly220Glu	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	32.26	Q14659|Q15484|Q5T986	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G220E	ENST00000358415.4	37	c.659	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980684	0.53827	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.22945	4.59;1.93;4.59	5.11	5.11	0.69529	.	0.052289	0.85682	D	0.000000	T	0.57858	0.2082	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65796	-0.6081	10	0.87932	D	0	-20.0491	18.557	0.91089	0.0:0.0:1.0:0.0	.	220	P19823	ITIH2_HUMAN	E	220;195;209	ENSP00000351190:G220E;ENSP00000388826:G195E;ENSP00000368906:G209E	ENSP00000351190:G220E	G	+	2	0	ITIH2	7802853	1.000000	0.71417	0.941000	0.38009	0.009000	0.06853	6.367000	0.73099	2.364000	0.80123	0.455000	0.32223	GGA	-	NULL		0.403	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	protein_coding	OTTHUMT00000046678.2	G	NM_002216	-		7762847	1	no_errors	ENST00000358415	ensembl	human	known	74_37	missense	SNP	0.994	A	A	7762847	G	A	7762847	3	1	102	1	0	0	0	0	1	0	0	0	7906	1174	41	2	685	2	ITIH2	10	7762847	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		7762847	127771900	366	6276											
PHYH	5264	genome.wustl.edu	37	chr10	13323065	13323065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgactggtgcccttcaCgtcaatgtagtggcaatcgg	11	10	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:13323065C>T	ENST00000263038.4	-	8	932	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	PHYH_ENST00000396920.3_Missense_Mutation_p.V275M|PHYH_ENST00000396913.2_Missense_Mutation_p.V192M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	292					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGCCCTTCACGTCAATGTAG	0.413																																																	0								ENSG00000107537						148	131	136					10																	13323065		2203	4300	6503	PHYH	SO:0001583	missense	0			-	HGNC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.874G>A	10.37:g.13323065C>T	ENSP00000263038:p.Val292Met	Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	A8MTS8|B1ALH5	Missense_Mutation	SNP							pfam_Phytyl_CoA_dOase	p.V292M	ENST00000263038.4	37	c.874	CCDS7097.1	10	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730421	0.69074	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90504	-2.68;-2.68;-2.68	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.61658	0.836;0.892	D	0.95676	0.8728	10	0.87932	D	0	-29.2648	19.0834	0.93192	0.0:1.0:0.0:0.0	.	275;292	B1ALH6;O14832	.;PAHX_HUMAN	M	192;292;275	ENSP00000380121:V192M;ENSP00000263038:V292M;ENSP00000380126:V275M	ENSP00000263038:V292M	V	-	1	0	PHYH	13363071	1.000000	0.71417	0.940000	0.37924	0.216000	0.24613	7.563000	0.82314	2.527000	0.85204	0.591000	0.81541	GTG	-	NULL		0.413	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	protein_coding	OTTHUMT00000046845.2	C		-		13323065	-1	no_errors	ENST00000263038	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13323065	C	T	13323065	3	4	102	1	0	0	0	0	1	0	0	0	11866	536	19	1	150	1	PHYH	10	13323065	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5560218	13323065	122211682	367	6277											
STAM	8027	genome.wustl.edu	37	chr10	17747638	17747638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgatggaggccctttcCttatataccaagttaatgaa	8	7	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:17747638C>T	ENST00000377524.3	+	12	1322	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	STAM_ENST00000540523.1_Silent_p.S258S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	369					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.S369>?(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AGGCCCTTTCCTTATATACCA	0.353																																																	1	Complex(1)	skin(1)						ENSG00000136738						125	121	122					10																	17747638		2203	4300	6503	STAM	SO:0001819	synonymous_variant	0			-	HGNC	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1107C>T	10.37:g.17747638C>T		Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	B0YJ99|D3DRU5|Q8N6D9	Silent	SNP							pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.S369	ENST00000377524.3	37	c.1107	CCDS7122.1	10																																																																																			-	NULL		0.353	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	protein_coding	OTTHUMT00000047039.1	C	NM_003473	-		17747638	1	no_errors	ENST00000377524	ensembl	human	known	74_37	silent	SNP	0.801	T	T	17747638	C	T	17747638	2	4	102	1	0	0	0	0	0	0	0	1	15255	668	24	2		2	STAM	10	17747638	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4424573	17747638	117787109	368	6278											
DNAJC1	64215	genome.wustl.edu	37	chr10	22048458	22048458	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctgcgtcctctcgctGggtgatcatgtcatcgggca	11	15	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:22048458G>A	ENST00000376980.3	-	11	1527	c.1237C>T	c.(1237-1239)Cag>Tag	p.Q413*	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	413					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCCTCTCGCTGGGTGATCATG	0.607																																																	0								ENSG00000136770						49	44	46					10																	22048458		2203	4300	6503	DNAJC1	SO:0001587	stop_gained	0			-	HGNC	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1237C>T	10.37:g.22048458G>A	ENSP00000366179:p.Gln413*	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	B0YIZ8|Q5VX89|Q9H6B8	Nonsense_Mutation	SNP							pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.Q413*	ENST00000376980.3	37	c.1237	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799298	0.90538	.	.	ENSG00000136770	ENST00000376980	.	.	.	5.58	5.58	0.84498	.	0.452770	0.25411	N	0.030876	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-2.3151	19.5533	0.95330	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	ENSP00000366179:Q413X	Q	-	1	0	DNAJC1	22088464	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.295000	0.78780	2.639000	0.89480	0.491000	0.48974	CAG	-	NULL		0.607	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	protein_coding	OTTHUMT00000047149.1	G	NM_022365	-		22048458	-1	no_errors	ENST00000376980	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	22048458	G	A	22048458	4	1	102	1	0	0	0	0	0	1	0	0	4630	1357	47	2	435	2	DNAJC1	10	22048458	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4300820	22048458	113486289	369	6279											
SPAG6	9576	genome.wustl.edu	37	chr10	22680840	22680840	+	Silent	SNP	C	C	T													acagaaagttctgaggatctCcaagtaaaagtaagtgctta							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:22680840C>T	ENST00000376624.3	+	8	1330	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Silent_p.L371L|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Silent_p.L157L|SPAG6_ENST00000376603.2_Silent_p.L472L|SPAG6_ENST00000313311.6_Silent_p.L396L	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	396					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTGAGGATCTCCAAGTAAAAG	0.358																																																	0								ENSG00000077327						66	63	64					10																	22680840		2203	4300	6503	SPAG6	SO:0001819	synonymous_variant	0			-	HGNC	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1188C>T	10.37:g.22680840C>T		Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP							pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.L472	ENST00000376624.3	37	c.1416	CCDS7139.1	10																																																																																			-	superfamily_ARM-type_fold		0.358	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	protein_coding	OTTHUMT00000047187.1	C		-		22680840	1	no_errors	ENST00000376603	ensembl	human	known	74_37	silent	SNP	0.996	T	T	22680840	C	T	22680840	2	4	102	1	0	0	0	0	0	0	0	1	14990	842	30	2		2	SPAG6	10	22680840	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	632382	22680840	112853907	370	6280	82	2									
SPAG6	9576	genome.wustl.edu	37	chr10	22680841	22680841	+	Nonsense_Mutation	SNP	C	C	T													cagaaagttctgaggatctcCaagtaaaagtaagtgcttaa							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:22680841C>T	ENST00000376624.3	+	8	1331	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Nonsense_Mutation_p.Q372*|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Nonsense_Mutation_p.Q158*|SPAG6_ENST00000376603.2_Nonsense_Mutation_p.Q473*|SPAG6_ENST00000313311.6_Nonsense_Mutation_p.Q397*	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	397					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGAGGATCTCCAAGTAAAAGT	0.358																																																	0								ENSG00000077327						65	63	64					10																	22680841		2203	4300	6503	SPAG6	SO:0001587	stop_gained	0			-	HGNC	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1189C>T	10.37:g.22680841C>T	ENSP00000365811:p.Gln397*	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Nonsense_Mutation	SNP							pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.Q473*	ENST00000376624.3	37	c.1417	CCDS7139.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.314050	0.98207	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	.	.	.	5.56	5.56	0.83823	.	0.050060	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2792	15.8488	0.78910	0.1361:0.8639:0.0:0.0	.	.	.	.	X	397;473;158;372;158;397	.	ENSP00000323599:Q397X	Q	+	1	0	SPAG6	22720847	1.000000	0.71417	0.869000	0.34112	0.982000	0.71751	4.542000	0.60677	2.604000	0.88044	0.585000	0.79938	CAA	-	superfamily_ARM-type_fold		0.358	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	protein_coding	OTTHUMT00000047187.1	C		-		22680841	1	no_errors	ENST00000376603	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	22680841	C	T	22680841	4	4	102	1	0	0	0	0	0	1	0	0	14990	595	21	2	1219	2	SPAG6	10	22680841	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	22680841	112853906	371	6281	82	2									
MYO3A	53904	genome.wustl.edu	37	chr10	26436477	26436477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactagtcaaccaccctcTgaccaaaacaggtaagacaa	6	13	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:26436477T>C	ENST00000265944.5	+	23	2790	c.2624T>C	c.(2623-2625)cTg>cCg	p.L875P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	875	Myosin motor.				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						AACCACCCTCTGACCAAAACA	0.393																																																	0								ENSG00000095777						139	118	125					10																	26436477		2203	4300	6503	MYO3A	SO:0001583	missense	0			-	HGNC	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.2624T>C	10.37:g.26436477T>C	ENSP00000265944:p.Leu875Pro	Somatic	0	22	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.L875P	ENST00000265944.5	37	c.2624	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323879	0.81580	.	.	ENSG00000095777	ENST00000265944	D	0.87179	-2.22	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.127012	0.53938	N	0.000042	D	0.91331	0.7266	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91330	0.5089	10	0.48119	T	0.1	.	15.7087	0.77606	0.0:0.0:0.0:1.0	.	875	Q8NEV4	MYO3A_HUMAN	P	875	ENSP00000265944:L875P	ENSP00000265944:L875P	L	+	2	0	MYO3A	26476483	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.997000	0.88414	2.173000	0.68751	0.454000	0.30748	CTG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	T	NM_017433	-		26436477	1	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26436477	T	C	26436477	3	2	102	1	0	0	0	0	1	0	0	0	10078	1580	55	5	2706	5	MYO3A	10	26436477	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	3755636	26436477	109098270	372	6282											
GAD2	2572	genome.wustl.edu	37	chr10	26581851	26581851	+	Silent	SNP	C	C	T													cctcagcacacaaatgtctgCttctggtacattcctccaag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:26581851C>T	ENST00000376261.3	+	15	2018	c.1515C>T	c.(1513-1515)tgC>tgT	p.C505C	GAD2_ENST00000259271.3_Silent_p.C505C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	505					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAAATGTCTGCTTCTGGTACA	0.448																																																	0								ENSG00000136750						232	236	235					10																	26581851		2203	4300	6503	GAD2	SO:0001819	synonymous_variant	0			-	HGNC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1515C>T	10.37:g.26581851C>T		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q9UD87	Silent	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.C505	ENST00000376261.3	37	c.1515	CCDS7149.1	10																																																																																			-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.448	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	C	NM_000818	-		26581851	1	no_errors	ENST00000259271	ensembl	human	known	74_37	silent	SNP	1.000	T	T	26581851	C	T	26581851	2	4	102	1	0	0	0	0	0	0	0	1	6182	805	28	2		2	GAD2	10	26581851	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	145374	26581851	108952896	373	6283	83	2									
GAD2	2572	genome.wustl.edu	37	chr10	26581852	26581852	+	Missense_Mutation	SNP	T	T	C													ctcagcacacaaatgtctgcTtctggtacattcctccaagc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:26581852T>C	ENST00000376261.3	+	15	2019	c.1516T>C	c.(1516-1518)Ttc>Ctc	p.F506L	GAD2_ENST00000259271.3_Missense_Mutation_p.F506L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	506					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAATGTCTGCTTCTGGTACAT	0.448																																																	0								ENSG00000136750						231	235	234					10																	26581852		2203	4300	6503	GAD2	SO:0001583	missense	0			-	HGNC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1516T>C	10.37:g.26581852T>C	ENSP00000365437:p.Phe506Leu	Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q9UD87	Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.F506L	ENST00000376261.3	37	c.1516	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996426	0.93167	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.68765	-0.35;-0.35	4.92	4.92	0.64577	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91804	0.5454	10	0.87932	D	0	-17.1667	14.8682	0.70434	0.0:0.0:0.0:1.0	.	506	Q05329	DCE2_HUMAN	L	506	ENSP00000365437:F506L;ENSP00000259271:F506L	ENSP00000259271:F506L	F	+	1	0	GAD2	26621858	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.655000	0.83696	1.968000	0.57251	0.533000	0.62120	TTC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.448	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	T	NM_000818	-		26581852	1	no_errors	ENST00000259271	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26581852	T	C	26581852	3	2	102	1	0	0	0	0	1	0	0	0	6182	1609	56	5	1574	5	GAD2	10	26581852	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1	26581852	108952895	374	6284	83	2									
NRP1	8829	genome.wustl.edu	37	chr10	33474611	33474611	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctaatgtcatccacagcaatCccaccaaggtttccttttcc	4	15	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:33474611C>A	ENST00000265371.4	-	16	2901	c.2376G>T	c.(2374-2376)ggG>ggT	p.G792G	NRP1_ENST00000395995.1_Silent_p.G792G|NRP1_ENST00000374875.1_Silent_p.G604G|NRP1_ENST00000374867.2_Silent_p.G792G			O14786	NRP1_HUMAN	neuropilin 1	792	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|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)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|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)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCACAGCAATCCCACCAAGGT	0.403																																					Melanoma(104;886 1489 44640 45944 51153)												0								ENSG00000099250						132	116	121					10																	33474611		2203	4300	6503	NRP1	SO:0001819	synonymous_variant	0			-	HGNC	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2376G>T	10.37:g.33474611C>A		Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP							pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.G792	ENST00000265371.4	37	c.2376	CCDS7177.1	10																																																																																			-	pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom		0.403	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	protein_coding	OTTHUMT00000051203.2	C		-		33474611	-1	no_errors	ENST00000265371	ensembl	human	known	74_37	silent	SNP	0.993	A	A	33474611	C	A	33474611	2	1	102	1	0	0	0	0	0	0	0	1	10662	842	30	3		3	NRP1	10	33474611	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6892759	33474611	102060136	375	6285											
ALOX5	240	genome.wustl.edu	37	chr10	45919559	45919559	+	Frame_Shift_Del	DEL	G	G	-													ggaatgacttcgccgactttGagaaaatctttgtcaagatc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:45919559delG	ENST00000374391.2	+	5	678	c.625delG	c.(625-627)gagfs	p.E209fs	ALOX5_ENST00000542434.1_Frame_Shift_Del_p.E209fs	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	209	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)	CGCCGACTTTGAGAAAATCTT	0.522																																																	0								ENSG00000012779						260	243	249					10																	45919559		2203	4300	6503	ALOX5	SO:0001589	frameshift_variant	0				HGNC	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.625delG	10.37:g.45919559delG	ENSP00000363512:p.Glu209fs	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Frame_Shift_Del	DEL							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.E209fs	ENST00000374391.2	37	c.625	CCDS7212.1	10																																																																																			-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.522	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	G				45919559	1	no_errors	ENST00000374391	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	45919559	G	-	45919559	7	5	102	1	0	1	0	1	0	0	0	0	540	1291	45	0	643	0	ALOX5	10	45919559	Frame_Shift_Del	DEL	G	TCGA-DX-A8BP-01A-11D-A37C-09	12444948	45919559	89615188	376	6286											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72494975	72494975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcctgcctggccccagcCcccagagctgcctgggatca	11	17	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:72494975C>T	ENST00000373207.1	+	9	1403	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P471L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	468	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGCCCCAGCCCCCAGAGCTG	0.587																																																	0								ENSG00000138316						70	69	69					10																	72494975		2203	4300	6503	ADAMTS14	SO:0001583	missense	0			-	HGNC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1403C>T	10.37:g.72494975C>T	ENSP00000362303:p.Pro468Leu	Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P471L	ENST00000373207.1	37	c.1412	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	C	6.337	0.430290	0.12045	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.56776	0.44;0.44	4.51	3.6	0.41247	Metallopeptidase, catalytic domain (1);	0.077029	0.50627	D	0.000109	T	0.27933	0.0688	N	0.12502	0.225	0.54753	D	0.999983	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.12708	-1.0537	10	0.25751	T	0.34	.	5.1521	0.15015	0.0:0.7385:0.0:0.2615	.	468;471	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	471;468	ENSP00000362304:P471L;ENSP00000362303:P468L	ENSP00000362303:P468L	P	+	2	0	ADAMTS14	72164981	0.655000	0.27376	0.999000	0.59377	0.962000	0.63368	4.787000	0.62432	2.516000	0.84829	0.655000	0.94253	CCC	-	smart_ADAM_Cys-rich		0.587	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	protein_coding	OTTHUMT00000048522.1	C	NM_080722	-		72494975	1	no_errors	ENST00000373208	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72494975	C	T	72494975	3	4	102	1	0	0	0	0	1	0	0	0	259	623	22	2	1446	2	ADAMTS14	10	72494975	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	26575416	72494975	63039772	377	6287											
SFTPD	6441	genome.wustl.edu	37	chr10	81706257	81706257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggccctctctcccatcCcgtccatcgcgaccaggcag	10	19	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:81706257C>T	ENST00000372292.3	-	2	199	c.159G>A	c.(157-159)cgG>cgA	p.R53R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	53	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCTCCCATCCCGTCCATCGC	0.597																																																	0								ENSG00000133661						70	63	65					10																	81706257		2203	4300	6503	SFTPD	SO:0001819	synonymous_variant	0			-	HGNC	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.159G>A	10.37:g.81706257C>T		Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP							pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R53	ENST00000372292.3	37	c.159	CCDS7362.1	10																																																																																			-	pfam_Collagen		0.597	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPD	protein_coding	OTTHUMT00000049011.1	C		-		81706257	-1	no_errors	ENST00000372292	ensembl	human	known	74_37	silent	SNP	1.000	T	T	81706257	C	T	81706257	2	4	102	1	0	0	0	0	0	0	0	1	14201	610	22	2		2	SFTPD	10	81706257	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9211282	81706257	53828490	378	6288											
PLCE1	51196	genome.wustl.edu	37	chr10	96030337	96030337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttcattgcctcagcaacGaaaaatggcagaaattttca	7	9	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:96030337G>A	ENST00000371380.3	+	17	4719	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1187Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1495Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1187Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1495	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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.R1495Q(3)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.418																																																	3	Substitution - Missense(3)	skin(2)|ovary(1)						ENSG00000138193						123	115	118					10																	96030337		1926	4133	6059	PLCE1	SO:0001583	missense	0			-	HGNC		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.4484G>A	10.37:g.96030337G>A	ENSP00000360431:p.Arg1495Gln	Somatic	0	112	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	39	29.09	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1495Q	ENST00000371380.3	37	c.4484	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.613073	0.96637	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000002	T	0.67711	0.2922	N	0.17764	0.52	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.96	D;D;P	0.79784	0.993;0.988;0.882	T	0.65821	-0.6075	10	0.30854	T	0.27	.	19.0562	0.93066	0.0:0.0:1.0:0.0	.	1479;1187;1495	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1495;1495;1187;1187	ENSP00000260766:R1495Q;ENSP00000360431:R1495Q;ENSP00000360438:R1187Q;ENSP00000360426:R1187Q	ENSP00000260766:R1495Q	R	+	2	0	PLCE1	96020327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.758000	0.98927	2.676000	0.91093	0.557000	0.71058	CGA	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.418	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341	-		96030337	1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96030337	G	A	96030337	3	1	102	1	0	0	0	0	1	0	0	0	12036	1058	37	1	4836	1	PLCE1	10	96030337	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	14324080	96030337	39504410	379	6289											
CYP2C18	1562	genome.wustl.edu	37	chr10	96447886	96447886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttctgttctgctaggaatCcttttcagcaatggaaagag	9	7	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:96447886C>T	ENST00000285979.6	+	3	535	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C18_ENST00000339022.5_Silent_p.I112I	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	112					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGCTAGGAATCCTTTTCAGCA	0.517																																																	0								ENSG00000108242						89	80	83					10																	96447886		2203	4300	6503	CYP2C18	SO:0001819	synonymous_variant	0			-	HGNC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.336C>T	10.37:g.96447886C>T		Somatic	0	115	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I112	ENST00000285979.6	37	c.336	CCDS7435.1	10																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.517	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	protein_coding	OTTHUMT00000049486.1	C	NM_000772	-		96447886	1	no_errors	ENST00000285979	ensembl	human	known	74_37	silent	SNP	0.001	T	T	96447886	C	T	96447886	2	4	102	1	0	0	0	0	0	0	0	1	4167	845	30	2		2	CYP2C18	10	96447886	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	417549	96447886	39086861	380	6290											
SORBS1	10580	genome.wustl.edu	37	chr10	97099064	97099064	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttctcatctacctgccgGagcagtgtgatcctctcacc	8	15	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:97099064G>A	ENST00000361941.3	-	27	2717	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L	SORBS1_ENST00000371227.4_Silent_p.L851L|SORBS1_ENST00000371249.2_Silent_p.L679L|SORBS1_ENST00000371245.3_Silent_p.L748L|SORBS1_ENST00000353505.5_Silent_p.L748L|SORBS1_ENST00000607232.1_Silent_p.L1157L|SORBS1_ENST00000371247.2_Silent_p.L897L|SORBS1_ENST00000347291.4_Silent_p.L709L|SORBS1_ENST00000474353.2_5'Flank|SORBS1_ENST00000277982.5_Silent_p.L919L|SORBS1_ENST00000393949.1_Silent_p.L867L|SORBS1_ENST00000371241.1_Silent_p.L547L|SORBS1_ENST00000371239.1_Silent_p.L674L|SORBS1_ENST00000354106.3_Silent_p.L867L|SORBS1_ENST00000306402.6_Silent_p.L644L|SORBS1_ENST00000371246.2_Silent_p.L919L	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTACCTGCCGGAGCAGTGTGA	0.572																																																	0								ENSG00000095637						161	148	152					10																	97099064		2203	4300	6503	SORBS1	SO:0001819	synonymous_variant	0			-	HGNC	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2691C>T	10.37:g.97099064G>A		Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33		Silent	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.L1157	ENST00000361941.3	37	c.3471	CCDS31255.1	10																																																																																			-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.572	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	protein_coding	OTTHUMT00000049517.1	G		-		97099064	-1	no_errors	ENST00000607232	ensembl	human	known	74_37	silent	SNP	0.996	A	A	97099064	G	A	97099064	2	1	102	1	0	0	0	0	0	0	0	1	14935	1161	41	2		2	SORBS1	10	97099064	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	651178	97099064	38435683	381	6291											
CRTAC1	55118	genome.wustl.edu	37	chr10	99664461	99664461	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccatgggtgctcatttgcaGatagaggcggtgggggccat	16	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:99664461G>A	ENST00000370597.3	-	7	1316	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	CRTAC1_ENST00000370591.2_Silent_p.L321L|CRTAC1_ENST00000298819.4_Silent_p.L321L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	321						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATTTGCAGATAGAGGCGG	0.592																																																	0								ENSG00000095713						101	102	102					10																	99664461		2203	4300	6503	CRTAC1	SO:0001819	synonymous_variant	0			-	HGNC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.961C>T	10.37:g.99664461G>A		Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP							pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.L321	ENST00000370597.3	37	c.961	CCDS31266.1	10																																																																																			-	NULL		0.592	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	protein_coding	OTTHUMT00000049754.1	G	NM_018058	-		99664461	-1	no_errors	ENST00000370597	ensembl	human	known	74_37	silent	SNP	0.988	A	A	99664461	G	A	99664461	2	1	102	1	0	0	0	0	0	0	0	1	3898	933	33	2		2	CRTAC1	10	99664461	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2565397	99664461	35870286	382	6292											
PKD2L1	9033	genome.wustl.edu	37	chr10	102049786	102049786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcaccacgcctggggaggGagccagccaccccttcctct	10	18	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:102049786G>A	ENST00000318222.3	-	14	2618	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	PKD2L1_ENST00000353274.3_Missense_Mutation_p.P746S|PKD2L1_ENST00000338519.3_Missense_Mutation_p.P671S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	746	Required for protein homotrimerization.				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)		CCTGGGGAGGGAGCCAGCCAC	0.557																																																	0								ENSG00000107593						88	81	83					10																	102049786		2203	4300	6503	PKD2L1	SO:0001583	missense	0			-	HGNC	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.2236C>T	10.37:g.102049786G>A	ENSP00000325296:p.Pro746Ser	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP							pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.P746S	ENST00000318222.3	37	c.2236	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032097	0.35893	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.58940	0.44;0.3;0.31	5.49	-6.12	0.02124	.	1.028690	0.07687	N	0.938095	T	0.40791	0.1131	L	0.33485	1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29761	-1.0001	10	0.38643	T	0.18	-0.156	9.3526	0.38147	0.5945:0.1053:0.3002:0.0	.	699;746	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	S	671;746;746;744	ENSP00000345068:P671S;ENSP00000266049:P746S;ENSP00000325296:P746S	ENSP00000325296:P746S	P	-	1	0	PKD2L1	102039776	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-0.004000	0.12878	-1.185000	0.02716	0.305000	0.20034	CCC	-	NULL		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	G	NM_016112	-		102049786	-1	no_errors	ENST00000318222	ensembl	human	known	74_37	missense	SNP	0.000	A	A	102049786	G	A	102049786	3	1	102	1	0	0	0	0	1	0	0	0	11969	1174	41	2	193	2	PKD2L1	10	102049786	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2385325	102049786	33484961	383	6293											
WNT8B	7479	genome.wustl.edu	37	chr10	102222945	102222945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgtttctttcaaagccttCtgtgtacatctgtcttttca	5	9	6	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:102222945C>T	ENST00000343737.5	+	1	148	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	7					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TCAAAGCCTTCTGTGTACATC	0.433																																																	0								ENSG00000075290						149	142	144					10																	102222945		2203	4300	6503	WNT8B	SO:0001583	missense	0			-	HGNC	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.20C>T	10.37:g.102222945C>T	ENSP00000340677:p.Ser7Phe	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.S7F	ENST00000343737.5	37	c.20	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028894	0.35797	.	.	ENSG00000075290	ENST00000343737	T	0.74106	-0.81	5.85	3.93	0.45458	.	1.426790	0.03843	N	0.270911	T	0.50222	0.1603	N	0.02011	-0.69	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.40728	T	0.16	.	4.507	0.11893	0.1921:0.4857:0.2482:0.074	.	7	Q93098	WNT8B_HUMAN	F	7	ENSP00000340677:S7F	ENSP00000340677:S7F	S	+	2	0	WNT8B	102212935	0.037000	0.19845	0.994000	0.49952	0.855000	0.48748	0.031000	0.13710	0.745000	0.32763	0.491000	0.48974	TCT	-	NULL		0.433	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	protein_coding	OTTHUMT00000049867.1	C	NM_003393	-		102222945	1	no_errors	ENST00000343737	ensembl	human	known	74_37	missense	SNP	0.960	T	T	102222945	C	T	102222945	3	4	102	1	0	0	0	0	1	0	0	0	17404	913	32	2	22	2	WNT8B	10	102222945	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	173159	102222945	33311802	384	6294											
KAZALD1	81621	genome.wustl.edu	37	chr10	102824587	102824587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgtttgcagaccaGctgaactctacaggcatccc	9	13	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:102824587G>A	ENST00000370200.5	+	5	1151	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	275					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TTGCAGACCAGCTGAACTCTA	0.532																																																	0								ENSG00000107821						83	82	83					10																	102824587		2203	4300	6503	KAZALD1	SO:0001819	synonymous_variant	0			-	HGNC	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"Immunoglobulin superfamily / I-set domain containing"	25460	protein-coding gene	gene with protein product		609208	"Kazal-type serine protease inhibitor domain 1"			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.825G>A	10.37:g.102824587G>A		Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D3DR74|Q6ZMB1|Q9BQ73	Silent	SNP							pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.Q275	ENST00000370200.5	37	c.825	CCDS7509.1	10																																																																																			-	pirsf_IGFBP_rP_mac25		0.532	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZALD1	protein_coding	OTTHUMT00000049891.2	G	NM_030929	-		102824587	1	no_errors	ENST00000370200	ensembl	human	known	74_37	silent	SNP	1.000	A	A	102824587	G	A	102824587	2	1	102	1	0	0	0	0	0	0	0	1	7991	962	34	2		2	KAZALD1	10	102824587	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	601642	102824587	32710160	385	6295											
BTRC	8945	genome.wustl.edu	37	chr10	103190111	103190111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctctgcagtgctctatgCccaggtctctgtggctgggc	12	13	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:103190111C>T	ENST00000370187.3	+	2	176	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.P5S	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GTGCTCTATGCCCAGGTCTCT	0.537																																																	0								ENSG00000166167						78	74	75					10																	103190111		2203	4300	6503	BTRC	SO:0001583	missense	0			-	HGNC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.58C>T	10.37:g.103190111C>T	ENSP00000359206:p.Pro20Ser	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P20S	ENST00000370187.3	37	c.58	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592609	0.86953	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.81078	-1.45;-1.4	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	D	0.83922	0.5359	N	0.19112	0.55	0.53005	D	0.999965	D;P	0.63880	0.993;0.909	D;P	0.70227	0.968;0.901	D	0.85783	0.1362	10	0.87932	D	0	-12.1557	20.2406	0.98372	0.0:1.0:0.0:0.0	.	20;20	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	S	20;5;2	ENSP00000359206:P20S;ENSP00000377088:P5S	ENSP00000359202:P2S	P	+	1	0	BTRC	103180101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.631000	0.67812	2.857000	0.98124	0.650000	0.86243	CCC	-	NULL		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	protein_coding	OTTHUMT00000049936.1	C	NM_033637	-		103190111	1	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103190111	C	T	103190111	3	4	102	1	0	0	0	0	1	0	0	0	1571	739	26	2	64	2	BTRC	10	103190111	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	365524	103190111	32344636	386	6296											
PSD	5662	genome.wustl.edu	37	chr10	104171537	104171537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcacgcgctctcgttcCtgggtctcacccattaaggc	10	16	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:104171537C>T	ENST00000020673.5	-	8	2395	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	PSD_ENST00000406432.1_Silent_p.Q623Q	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	623	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTCTCGTTCCTGGGTCTCAC	0.592																																																	0								ENSG00000059915						62	46	51					10																	104171537		2203	4300	6503	PSD	SO:0001819	synonymous_variant	0			-	HGNC	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1869G>A	10.37:g.104171537C>T		Somatic	0	79	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.Q623	ENST00000020673.5	37	c.1869	CCDS31272.1	10																																																																																			-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.592	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	protein_coding	OTTHUMT00000050041.2	C		-		104171537	-1	no_errors	ENST00000020673	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104171537	C	T	104171537	2	4	102	1	0	0	0	0	0	0	0	1	12651	680	24	2		2	PSD	10	104171537	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	981426	104171537	31363210	387	6297											
AS3MT	57412	genome.wustl.edu	37	chr10	104660349	104660349	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtttgccttttgacaGgatataatcacagatccatt	7	7	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:104660349G>T	ENST00000369880.3	+	11	1097		c.e11-1		C10orf32-ASMT_ENST00000299353.6_Splice_Site	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase						arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CCTTTTGACAGGATATAATCA	0.398																																																	0								ENSG00000214435						133	127	129					10																	104660349		1945	4158	6103	AS3MT	SO:0001630	splice_region_variant	0			-	HGNC	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"arsenic (+3 oxidation state) methyltransferase"			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.1021-1G>T	10.37:g.104660349G>T		Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Splice_Site	SNP							-	e11-1	ENST00000369880.3	37	c.1021-1	CCDS41567.1	10	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847330	0.91277	.	.	ENSG00000214435	ENST00000369880	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6236	0.68605	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AS3MT	104650339	1.000000	0.71417	0.984000	0.44739	0.836000	0.47400	4.307000	0.59123	2.610000	0.88304	0.561000	0.74099	.	-	-		0.398	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	protein_coding	OTTHUMT00000050107.1	G	NM_020682	-	Intron	104660349	1	no_errors	ENST00000369880	ensembl	human	known	74_37	splice_site	SNP	0.995	T	T	104660349	G	T	104660349	5	4	102	1	0	0	0	0	0	0	1	0	1005	1014	35	3	1062	3	AS3MT	10	104660349	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	488812	104660349	30874398	388	6298											
PDCD11	22984	genome.wustl.edu	37	chr10	105203055	105203055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcaaagtctttctccacCtggctgacatctacgccaag	6	15	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:105203055C>T	ENST00000369797.3	+	33	5183	c.5089C>T	c.(5089-5091)Ctg>Ttg	p.L1697L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1697					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTCTCCACCTGGCTGACAT	0.552																																																	0								ENSG00000148843						63	60	61					10																	105203055		2203	4300	6503	PDCD11	SO:0001819	synonymous_variant	0			-	HGNC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5089C>T	10.37:g.105203055C>T		Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP							pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.L1697	ENST00000369797.3	37	c.5089	CCDS31276.1	10																																																																																			-	smart_HAT,pfscan_TPR-contain_dom		0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	protein_coding	OTTHUMT00000050151.1	C		-		105203055	1	no_errors	ENST00000369797	ensembl	human	known	74_37	silent	SNP	0.997	T	T	105203055	C	T	105203055	2	4	102	1	0	0	0	0	0	0	0	1	11619	680	24	2		2	PDCD11	10	105203055	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	542706	105203055	30331692	389	6299											
SORCS1	114815	genome.wustl.edu	37	chr10	108448081	108448081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttagccaagaacattcCctttatccctgctacctggg	7	13	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:108448081C>T	ENST00000263054.6	-	10	1436	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	SORCS1_ENST00000369698.1_Missense_Mutation_p.G12R|SORCS1_ENST00000344440.6_Missense_Mutation_p.G477R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	477					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGAACATTCCCTTTATCCCT	0.398																																																	0								ENSG00000108018						86	78	81					10																	108448081		2203	4300	6503	SORCS1	SO:0001583	missense	0			-	HGNC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1429G>A	10.37:g.108448081C>T	ENSP00000263054:p.Gly477Arg	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G477R	ENST00000263054.6	37	c.1429	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938431	0.92526	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.36157	1.27;1.27;1.27	6.17	6.17	0.99709	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.93016	3.37	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	0.76575	-0.2909	9	.	.	.	-17.1552	20.8794	0.99867	0.0:1.0:0.0:0.0	.	477;477;477;477;477	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	12;477;477	ENSP00000358712:G12R;ENSP00000263054:G477R;ENSP00000345964:G477R	.	G	-	1	0	SORCS1	108438071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	GGA	-	smart_VPS10		0.398	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	C	NM_052918	-		108448081	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108448081	C	T	108448081	3	4	102	1	0	0	0	0	1	0	0	0	14938	632	22	2	2379	2	SORCS1	10	108448081	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3245026	108448081	27086666	390	6300											
TCF7L2	6934	genome.wustl.edu	37	chr10	114912183	114912183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaactgtaccccggctggtCcgcgcgggataactatgtag	13	12	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:114912183C>T	ENST00000355995.4	+	11	1760	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	TCF7L2_ENST00000369397.4_Missense_Mutation_p.S395F|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S442F|TCF7L2_ENST00000542695.1_Missense_Mutation_p.S134F|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_Missense_Mutation_p.S61F|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S395F|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000369389.1_Missense_Mutation_p.S129F|TCF7L2_ENST00000545257.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S418F			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	418					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCGGCTGGTCCGCGCGGGAT	0.537			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0								ENSG00000148737						116	123	120					10																	114912183		2203	4300	6503	TCF7L2	SO:0001583	missense	0			-	HGNC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1253C>T	10.37:g.114912183C>T	ENSP00000348274:p.Ser418Phe	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP							pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S418F	ENST00000355995.4	37	c.1253		10	.	.	.	.	.	.	.	.	.	.	c	31	5.058496	0.93846	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D	0.99394	-5.28;-5.3;-5.29;-5.29;-5.78;-5.82;-5.82;-5.3;-5.8;-5.23;-5.69;-5.74	5.66	5.66	0.87406	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.053561	0.85682	D	0.000000	D	0.99527	0.9831	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.983;0.999;0.999;1.0;0.999;1.0;1.0;1.0;0.999;0.997;1.0;1.0;0.999;0.999;1.0;0.992;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.968;0.996;0.962;0.999;0.999;0.999;0.995;0.998;1.0;0.998;0.997;0.972;0.998;0.999;0.997;0.997;0.995;0.936;1.0	D	0.98595	1.0656	10	0.87932	D	0	-23.4883	19.7439	0.96243	0.0:1.0:0.0:0.0	.	275;235;317;418;289;333;391;395;395;361;418;395;395;400;442;395;418;391;395	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	418;418;418;418;442;418;418;395;395;134;129;135;61	ENSP00000348274:S418F;ENSP00000440547:S418F;ENSP00000444972:S418F;ENSP00000446238:S418F;ENSP00000347949:S442F;ENSP00000446172:S418F;ENSP00000443626:S418F;ENSP00000358404:S395F;ENSP00000344823:S395F;ENSP00000443883:S134F;ENSP00000358396:S129F;ENSP00000277945:S135F	ENSP00000277945:S135F	S	+	2	0	TCF7L2	114902173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.669000	0.90835	0.655000	0.94253	TCC	-	superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.537	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	protein_coding		C	NM_030756	-		114912183	1	no_errors	ENST00000355995	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114912183	C	T	114912183	3	4	102	1	0	0	0	0	1	0	0	0	15705	855	30	2	1440	2	TCF7L2	10	114912183	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6464102	114912183	20622564	391	6301											
FAM160B1	57700	genome.wustl.edu	37	chr10	116606433	116606433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattatacagaatataaacCtttgtgcccagaagataaag	6	6	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:116606433C>T	ENST00000369248.4	+	11	1849	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P505L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	505										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GAATATAAACCTTTGTGCCCA	0.353																																																	0								ENSG00000151553						69	69	69					10																	116606433		2203	4299	6502	FAM160B1	SO:0001583	missense	0			-	HGNC	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1514C>T	10.37:g.116606433C>T	ENSP00000358251:p.Pro505Leu	Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP							pfam_RetinoicA-induced_16-like	p.P505L	ENST00000369248.4	37	c.1514	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169860	0.57584	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.68765	-0.35;-0.35	5.83	5.83	0.93111	.	0.266640	0.44483	D	0.000452	T	0.55194	0.1905	N	0.24115	0.695	0.80722	D	1	B;P	0.38922	0.007;0.651	B;B	0.36030	0.02;0.216	T	0.52253	-0.8600	10	0.25106	T	0.35	-23.8221	20.1338	0.98010	0.0:1.0:0.0:0.0	.	505;505	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	L	505	ENSP00000358251:P505L;ENSP00000358253:P505L	ENSP00000358251:P505L	P	+	2	0	FAM160B1	116596423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.641000	0.67881	2.770000	0.95276	0.655000	0.94253	CCT	-	NULL		0.353	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	protein_coding	OTTHUMT00000050499.1	C	XM_049351	-		116606433	1	no_errors	ENST00000369248	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116606433	C	T	116606433	3	4	102	1	0	0	0	0	1	0	0	0	5472	681	24	2	1556	2	FAM160B1	10	116606433	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1694250	116606433	18928314	392	6302											
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118351374	118351374	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgaaaattctcccctgGagccctgagaagatcggcac	9	15	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:118351374G>A	ENST00000528052.1	+	3	212	c.141G>A	c.(139-141)tgG>tgA	p.W47*	PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.W47*|PNLIPRP1_ENST00000442761.1_Nonsense_Mutation_p.W47*|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.W47*			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	47					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCTCCCCTGGAGCCCTGAGA	0.507																																																	0								ENSG00000187021						113	118	116					10																	118351374		2203	4300	6503	PNLIPRP1	SO:0001587	stop_gained	0			-	HGNC	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.141G>A	10.37:g.118351374G>A	ENSP00000433933:p.Trp47*	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Nonsense_Mutation	SNP							pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.W47*	ENST00000528052.1	37	c.141	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418080	0.42918	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	.	.	.	5.51	5.51	0.81932	.	0.173927	0.41938	D	0.000796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6318	8.0564	0.30608	0.0841:0.1618:0.754:0.0	.	.	.	.	X	47	.	ENSP00000351695:W47X	W	+	3	0	PNLIPRP1	118341364	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	2.242000	0.43106	2.593000	0.87608	0.655000	0.94253	TGG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc		0.507	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	protein_coding	OTTHUMT00000384633.1	G	NM_006229	-		118351374	1	no_errors	ENST00000358834	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	118351374	G	A	118351374	4	1	102	1	0	0	0	0	0	1	0	0	12152	1183	41	2	147	2	PNLIPRP1	10	118351374	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1744941	118351374	17183373	393	6303											
EBF3	253738	genome.wustl.edu	37	chr10	131639236	131639236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtaattggactgctggGgagtactgctggggacgtag	17	5	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:131639236G>A	ENST00000355311.5	-	14	1505	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	EBF3_ENST00000368648.3_Missense_Mutation_p.P469L|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	478	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGACTGCTGGGGAGTACTGCT	0.532																																																	0								ENSG00000108001						173	162	166					10																	131639236		2203	4300	6503	EBF3	SO:0001583	missense	0			-	HGNC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1433C>T	10.37:g.131639236G>A	ENSP00000347463:p.Pro478Leu	Somatic	0	130	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP							pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.P478L	ENST00000355311.5	37	c.1433		10	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838048	0.71373	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.48201	0.82;0.82	4.81	4.81	0.61882	.	0.051224	0.85682	D	0.000000	T	0.59197	0.2176	M	0.82630	2.6	0.80722	D	1	B	0.33826	0.427	B	0.38985	0.287	T	0.67138	-0.5746	10	0.87932	D	0	-17.7066	18.1072	0.89524	0.0:0.0:1.0:0.0	.	469	Q9H4W6-2	.	L	478;469	ENSP00000347463:P478L;ENSP00000357637:P469L	ENSP00000347463:P478L	P	-	2	0	EBF3	131529226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.612000	0.98347	2.492000	0.84095	0.655000	0.94253	CCC	-	NULL		0.532	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	protein_coding	OTTHUMT00000051015.2	G	NM_001005463	-		131639236	-1	no_errors	ENST00000355311	ensembl	human	known	74_37	missense	SNP	1.000	A	A	131639236	G	A	131639236	3	1	102	1	0	0	0	0	1	0	0	0	4884	1232	43	2	261	2	EBF3	10	131639236	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	13287862	131639236	3895511	394	6304											
SYCE1	93426	genome.wustl.edu	37	chr10	135371703	135371703	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatctccttcaggtgtActttctctccatgcactaga	6	12	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:135371703A>T	ENST00000343131.5	-	5	391	c.287T>A	c.(286-288)gTa>gAa	p.V96E	SYCE1_ENST00000432597.2_Missense_Mutation_p.V60E|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.V60E	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	96					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTTCAGGTGTACTTTCTCTCC	0.522																																																	0								ENSG00000171772						200	152	168					10																	135371703		2203	4300	6503	SYCE1	SO:0001583	missense	0			-	HGNC	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.287T>A	10.37:g.135371703A>T	ENSP00000341282:p.Val96Glu	Somatic	0	91	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP							NULL	p.V96E	ENST00000343131.5	37	c.287	CCDS44501.1	10	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390783	0.62066	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.54	2.17	0.27698	.	0.465346	0.19985	N	0.101686	T	0.42810	0.1219	L	0.61218	1.895	0.27049	N	0.963834	P;P	0.51351	0.944;0.904	P;P	0.52957	0.714;0.571	T	0.29518	-1.0009	10	0.72032	D	0.01	-0.6934	6.2582	0.20885	0.8027:0.0:0.1973:0.0	.	96;60	Q8N0S2;Q8N0S2-2	SYCE1_HUMAN;.	E	96;60;60;96	ENSP00000303978:V96E;ENSP00000411779:V60E;ENSP00000357503:V60E;ENSP00000341282:V96E	ENSP00000303978:V96E	V	-	2	0	SYCE1	135221693	0.154000	0.22792	0.709000	0.30452	0.957000	0.61999	-0.103000	0.10940	0.481000	0.27557	0.533000	0.62120	GTA	-	NULL		0.522	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYCE1	protein_coding		A	NM_201564	-		135371703	-1	no_errors	ENST00000343131	ensembl	human	known	74_37	missense	SNP	0.759	T	T	135371703	A	T	135371703	3	4	102	1	0	0	0	0	1	0	0	0	15435	391	14	5	847	5	SYCE1	10	135371703	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	3732467	135371703	163044	395	6305											
MUC2	4583	genome.wustl.edu	37	chr11	1104068	1104068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaaggcccaggccctGgaccacagctgctcctgctg	12	17	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:1104068G>A	ENST00000441003.2	+	49	8286	c.8259G>A	c.(8257-8259)ctG>ctA	p.L2753L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5115					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCAGGCCCTGGACCACAGCT	0.677																																																	0								ENSG00000198788						15	20	18					11																	1104068		2033	4188	6221	MUC2	SO:0001819	synonymous_variant	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8259G>A	11.37:g.1104068G>A		Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q14878	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L2753	ENST00000441003.2	37	c.8259		11																																																																																			-	smart_Cys_knot_C,pfscan_Cys_knot_C		0.677	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1104068	1	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	SNP	0.881	A	A	1104068	G	A	1104068	2	1	102	1	0	0	0	0	0	0	0	1	9977	1335	47	2		2	MUC2	11	1104068	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		1104068	133902448	396	6306											
MUC5B	727897	genome.wustl.edu	37	chr11	1262307	1262307	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccagcaggtggactgTgaccgcatgcgggggctgat	18	10	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:1262307T>G	ENST00000529681.1	+	31	4255	c.4197T>G	c.(4195-4197)tgT>tgG	p.C1399W	MUC5B_ENST00000447027.1_Missense_Mutation_p.C1402W|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1399	7 X Cys-rich subdomain repeats.				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)		AGGTGGACTGTGACCGCATGC	0.652																																																	0								ENSG00000117983						26	33	31					11																	1262307		2134	4235	6369	MUC5B	SO:0001583	missense	0			-	HGNC	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.4197T>G	11.37:g.1262307T>G	ENSP00000436812:p.Cys1399Trp	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.C1402W	ENST00000529681.1	37	c.4206	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	t	10.99	1.506678	0.26949	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22336	1.96;1.96	4.39	-7.71	0.01254	.	.	.	.	.	T	0.48259	0.1490	M	0.90759	3.145	0.37052	D	0.897654	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70146	-0.4952	9	0.87932	D	0	.	15.7292	0.77788	0.0:0.2952:0.0:0.7048	.	2092;1402	A7Y9J9;E9PBJ0	.;.	W	1399;1402;1400;1469	ENSP00000436812:C1399W;ENSP00000415793:C1402W	ENSP00000343037:C1400W	C	+	3	2	MUC5B	1218883	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-4.535000	0.00219	-1.549000	0.01710	0.255000	0.18592	TGT	-	NULL		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	T	XM_001126093	-		1262307	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.001	G	G	1262307	T	G	1262307	3	3	102	1	0	0	0	0	1	0	0	0	9981	1702	59	5	4328	5	MUC5B	11	1262307	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	158239	1262307	133744209	397	6307											
OR51F1	256892	genome.wustl.edu	37	chr11	4790811	4790811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaccagcactccagattCcataaaagtgaatccatgaa	6	12	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:4790811C>T	ENST00000380383.1	-	1	357	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.E113K|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTCCAGATTCCATAAAAGTG	0.418																																																	0								ENSG00000188069						68	67	67					11																	4790811		2201	4298	6499	OR51F1	SO:0001583	missense	0			-	HGNC	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.358G>A	11.37:g.4790811C>T	ENSP00000369744:p.Glu120Lys	Somatic	0	18	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E120K	ENST00000380383.1	37	c.358		11	.	.	.	.	.	.	.	.	.	.	c	17.90	3.501850	0.64298	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.40225	1.04;1.04	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.113705	0.38492	N	0.001676	T	0.74023	0.3662	H	0.98786	4.33	0.29018	N	0.886444	D	0.56968	0.978	P	0.54499	0.754	T	0.79778	-0.1660	10	0.87932	D	0	.	16.8643	0.86025	0.0:1.0:0.0:0.0	.	120	A6NGY5	O51F1_HUMAN	K	113;120	ENSP00000345163:E113K;ENSP00000369744:E120K	ENSP00000345163:E113K	E	-	1	0	OR51F1	4747387	0.053000	0.20554	0.898000	0.35279	0.674000	0.39518	1.944000	0.40263	2.567000	0.86603	0.586000	0.80456	GAA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	protein_coding		C	NM_001004752	-		4790811	-1	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	SNP	0.723	T	T	4790811	C	T	4790811	3	4	102	1	0	0	0	0	1	0	0	0	11098	864	30	2	604	2	OR51F1	11	4790811	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3528504	4790811	130215705	398	6308											
OR51B6	390058	genome.wustl.edu	37	chr11	5373381	5373381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctcatcatctttttctCctacattttgattctcaaga	2	11	5	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5373381C>T	ENST00000380219.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	215					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)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTTTTCTCCTACATTTTG	0.453																																																	0								ENSG00000176239						207	186	194					11																	5373381		2201	4297	6498	OR51B6	SO:0001583	missense	0			-	HGNC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.644C>T	11.37:g.5373381C>T	ENSP00000369568:p.Ser215Phe	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.S215F	ENST00000380219.1	37	c.644	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283317	0.59867	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.42513	0.97	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.122715	0.37304	N	0.002142	T	0.77572	0.4150	H	0.97415	4	0.47819	D	0.999526	D	0.89917	1.0	D	0.87578	0.998	D	0.85764	0.1351	10	0.87932	D	0	.	17.3457	0.87309	0.0:1.0:0.0:0.0	.	215	Q9H340	O51B6_HUMAN	F	214;215	ENSP00000369568:S215F	ENSP00000369568:S215F	S	+	2	0	OR51B6	5329957	0.998000	0.40836	0.420000	0.26596	0.474000	0.32979	5.427000	0.66483	2.672000	0.90937	0.557000	0.71058	TCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.453	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	protein_coding	OTTHUMT00000142960.1	C	NM_001004750	-		5373381	1	no_errors	ENST00000380219	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5373381	C	T	5373381	3	4	102	1	0	0	0	0	1	0	0	0	11094	855	30	2	646	2	OR51B6	11	5373381	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	582570	5373381	129633135	399	6309											
OR52H1	390067	genome.wustl.edu	37	chr11	5566669	5566669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatccacacatggaattgctCcaggcctgggatccctacca	8	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5566669C>T	ENST00000322653.4	-	1	110	c.85G>A	c.(85-87)Gag>Aag	p.E29K	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAATTGCTCCAGGCCTGGG	0.473																																																	0								ENSG00000181616						88	83	85					11																	5566669		2201	4297	6498	OR52H1	SO:0001583	missense	0			-	HGNC	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.85G>A	11.37:g.5566669C>T	ENSP00000326259:p.Glu29Lys	Somatic	0	28	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B9EH26|Q6IF79	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E29K	ENST00000322653.4	37	c.85	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298919	0.60195	.	.	ENSG00000181616	ENST00000322653	T	0.02974	4.09	5.2	4.29	0.51040	.	0.092605	0.46758	D	0.000265	T	0.14313	0.0346	M	0.88310	2.945	0.31852	N	0.622068	P	0.50943	0.94	P	0.58721	0.844	T	0.02404	-1.1164	10	0.72032	D	0.01	.	11.9136	0.52753	0.0:0.9148:0.0:0.0852	.	29	Q8NGJ2	O52H1_HUMAN	K	29	ENSP00000326259:E29K	ENSP00000326259:E29K	E	-	1	0	OR52H1	5523245	0.937000	0.31787	0.747000	0.31113	0.360000	0.29518	1.529000	0.35996	2.432000	0.82394	0.655000	0.94253	GAG	-	NULL		0.473	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	protein_coding	OTTHUMT00000143400.1	C	NM_001005289	-		5566669	-1	no_errors	ENST00000322653	ensembl	human	known	74_37	missense	SNP	0.915	T	T	5566669	C	T	5566669	3	4	102	1	0	0	0	0	1	0	0	0	11121	864	30	2	880	2	OR52H1	11	5566669	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	193288	5566669	129439847	400	6310											
OR52N4	390072	genome.wustl.edu	37	chr11	5776913	5776913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatcctttcaggttctaagGataccaaatcctacagcatg	8	10	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5776913G>A	ENST00000317254.3	+	1	991	c.943G>A	c.(943-945)Gat>Aat	p.D315N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGGTTCTAAGGATACCAAATC	0.403																																																	0								ENSG00000181074						62	57	59					11																	5776913		1885	4116	6001	OR52N4	SO:0001583	missense	0			-	HGNC	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.943G>A	11.37:g.5776913G>A	ENSP00000323224:p.Asp315Asn	Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B2RNP8|Q6IF77	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D315N	ENST00000317254.3	37	c.943	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611473	0.14066	.	.	ENSG00000181074	ENST00000317254	T	0.00468	7.22	5.13	2.0	0.26442	.	0.539313	0.15172	N	0.276564	T	0.00271	0.0008	N	0.25647	0.755	0.22171	N	0.999316	B	0.06786	0.001	B	0.06405	0.002	T	0.41016	-0.9532	10	0.28530	T	0.3	.	2.9086	0.05730	0.255:0.0:0.5306:0.2144	.	315	Q8NGI2	O52N4_HUMAN	N	315	ENSP00000323224:D315N	ENSP00000323224:D315N	D	+	1	0	OR52N4	5733489	0.000000	0.05858	0.889000	0.34880	0.226000	0.24999	-0.209000	0.09358	0.743000	0.32719	0.644000	0.83932	GAT	-	NULL		0.403	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	protein_coding	OTTHUMT00000143350.1	G	NM_001005175	-		5776913	1	no_errors	ENST00000317254	ensembl	human	known	74_37	missense	SNP	0.733	A	A	5776913	G	A	5776913	3	1	102	1	0	0	0	0	1	0	0	0	11131	1174	41	2	945	2	OR52N4	11	5776913	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	210244	5776913	129229603	401	6311											
OR52E8	390079	genome.wustl.edu	37	chr11	5878606	5878606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagcagtgaagaaatggatGaagaacatgtgagaaaggca	13	3	0	5			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5878606G>A	ENST00000537935.1	-	1	358	c.327C>T	c.(325-327)ttC>ttT	p.F109F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	109						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)		AGAAATGGATGAAGAACATGT	0.468																																																	0								ENSG00000183269						179	195	190					11																	5878606		2152	4296	6448	OR52E8	SO:0001819	synonymous_variant	0			-	HGNC	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.327C>T	11.37:g.5878606G>A		Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	B9EH38	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F109	ENST00000537935.1	37	c.327	CCDS31400.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	protein_coding	OTTHUMT00000401145.1	G	NM_001005168	-		5878606	-1	no_errors	ENST00000537935	ensembl	human	known	74_37	silent	SNP	0.998	A	A	5878606	G	A	5878606	2	1	102	1	0	0	0	0	0	0	0	1	11120	1281	45	2		2	OR52E8	11	5878606	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	101693	5878606	129127910	402	6312											
FAM160A2	84067	genome.wustl.edu	37	chr11	6239821	6239821	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccctgtctctctgcTaggcccacctcgtgcccatg	7	19	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:6239821T>C	ENST00000449352.2	-	8	1699				FAM160A2_ENST00000265978.4_Missense_Mutation_p.S482G|FAM160A2_ENST00000524416.1_Intron			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTCTCTGCTAGGCCCACCT	0.622																																																	0								ENSG00000051009						115	100	105					11																	6239821		2201	4296	6497	FAM160A2	SO:0001627	intron_variant	0			-	HGNC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1435+8A>G	11.37:g.6239821T>C		Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP							pfam_RetinoicA-induced_16-like	p.S482G	ENST00000449352.2	37	c.1444	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	T	7.849	0.723505	0.15439	.	.	ENSG00000051009	ENST00000265978	T	0.08807	3.05	4.53	3.39	0.38822	.	0.714379	0.13811	N	0.361121	T	0.06371	0.0164	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.19391	0.025	T	0.28554	-1.0040	9	0.23302	T	0.38	-33.9884	8.3416	0.32247	0.1977:0.0:0.0:0.8022	.	482	Q8N612-2	.	G	482	ENSP00000265978:S482G	ENSP00000265978:S482G	S	-	1	0	FAM160A2	6196397	0.900000	0.30661	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	1.029000	0.39812	0.533000	0.62120	AGC	-	NULL		0.622	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	protein_coding	OTTHUMT00000383759.1	T	NM_032127	-		6239821	-1	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	SNP	1.000	C	C	6239821	T	C	6239821	1	2	102	0	1	0	0	0	0	0	0	0	5471	1522	53	5		5	FAM160A2	11	6239821	Intron	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	361215	6239821	128766695	403	6313											
OR5P2	120065	genome.wustl.edu	37	chr11	7818216	7818216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagctggatggcacatcCaaggtaggagactgtatttc	11	9	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:7818216C>T	ENST00000329434.2	-	1	304	c.274G>A	c.(274-276)Gga>Aga	p.G92R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGCACATCCAAGGTAGGAG	0.502																																																	0								ENSG00000183303						96	114	108					11																	7818216		2102	4292	6394	OR5P2	SO:0001583	missense	0			-	HGNC	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.274G>A	11.37:g.7818216C>T	ENSP00000331823:p.Gly92Arg	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	Q3MIS8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G92R	ENST00000329434.2	37	c.274	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546154	0.65198	.	.	ENSG00000183303	ENST00000329434	T	0.09817	2.94	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.191759	0.37095	N	0.002250	T	0.34978	0.0916	M	0.79011	2.435	0.38729	D	0.953611	D	0.76494	0.999	D	0.71184	0.972	T	0.09335	-1.0679	10	0.72032	D	0.01	-10.1488	16.9428	0.86222	0.0:1.0:0.0:0.0	.	92	Q8WZ92	OR5P2_HUMAN	R	92	ENSP00000331823:G92R	ENSP00000331823:G92R	G	-	1	0	OR5P2	7774792	0.062000	0.20869	0.975000	0.42487	0.469000	0.32828	3.428000	0.52792	2.868000	0.98415	0.555000	0.69702	GGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	protein_coding	OTTHUMT00000385696.1	C	NM_153444	-		7818216	-1	no_errors	ENST00000329434	ensembl	human	known	74_37	missense	SNP	0.977	T	T	7818216	C	T	7818216	3	4	102	1	0	0	0	0	1	0	0	0	11180	603	21	2	698	2	OR5P2	11	7818216	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1578395	7818216	127188300	404	6314											
ST5	6764	genome.wustl.edu	37	chr11	8747717	8747717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagaagaggggtacagGgactggagactggatgcatc	19	5	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:8747717G>A	ENST00000534127.1	-	7	1765	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	ST5_ENST00000313726.6_Silent_p.S460S|ST5_ENST00000357665.1_Silent_p.S460S|ST5_ENST00000526757.1_Silent_p.S40S|ST5_ENST00000530438.1_Silent_p.S40S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	460					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGGGTACAGGGACTGGAGAC	0.458																																																	0								ENSG00000166444						139	129	132					11																	8747717		2201	4296	6497	ST5	SO:0001819	synonymous_variant	0			-	HGNC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1380C>T	11.37:g.8747717G>A		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	22.50	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S460	ENST00000534127.1	37	c.1380	CCDS7791.1	11																																																																																			-	NULL		0.458	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	protein_coding	OTTHUMT00000386518.1	G	NM_005418	-		8747717	-1	no_errors	ENST00000313726	ensembl	human	known	74_37	silent	SNP	1.000	A	A	8747717	G	A	8747717	2	1	102	1	0	0	0	0	0	0	0	1	15227	1219	43	2		2	ST5	11	8747717	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	929501	8747717	126258799	405	6315											
PDE3B	5140	genome.wustl.edu	37	chr11	14793513	14793513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggattgggacttaaaacaaTggtataagcctcattatcaa	9	6	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:14793513T>C	ENST00000282096.4	+	2	1362	c.1009T>C	c.(1009-1011)Tgg>Cgg	p.W337R	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.W337R	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	337					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CTTAAAACAATGGTATAAGCC	0.264																																																	0								ENSG00000152270						55	59	58					11																	14793513		2193	4269	6462	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1009T>C	11.37:g.14793513T>C	ENSP00000282096:p.Trp337Arg	Somatic	0	86	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.W337R	ENST00000282096.4	37	c.1009	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708505	0.68615	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.72394	-0.35;-0.65	5.6	5.6	0.85130	.	3.184330	0.01191	N	0.007334	D	0.85261	0.5656	M	0.64997	1.995	0.49051	D	0.999741	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.66023	-0.6026	10	0.48119	T	0.1	.	14.0103	0.64493	0.0:0.0:0.0:1.0	.	337;337;337	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	R	337	ENSP00000282096:W337R;ENSP00000388644:W337R	ENSP00000282096:W337R	W	+	1	0	PDE3B	14750089	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	5.509000	0.67012	2.140000	0.66376	0.477000	0.44152	TGG	-	NULL		0.264	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	T	NM_000922	-		14793513	1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	0.996	C	C	14793513	T	C	14793513	3	2	102	1	0	0	0	0	1	0	0	0	11640	1464	51	5	1015	5	PDE3B	11	14793513	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	6045796	14793513	120213003	406	6316											
IGSF22	283284	genome.wustl.edu	37	chr11	18730958	18730958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcatggcacggacccCcttgtctagctccacaggct	12	14	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:18730958C>T	ENST00000513874.1	-	18	3113	c.2974G>A	c.(2974-2976)Ggg>Agg	p.G992R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	891										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCACGGACCCCCTTGTCTAGC	0.582																																																	0								ENSG00000179057						75	77	77					11																	18730958		1976	4148	6124	IGSF22	SO:0001583	missense	0			-	HGNC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2974G>A	11.37:g.18730958C>T	ENSP00000421191:p.Gly992Arg	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	A6NNA0|D6RGV7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G992R	ENST00000513874.1	37	c.2974	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568181	0.45798	.	.	ENSG00000179057	ENST00000513874	T	0.51071	0.72	4.21	3.3	0.37823	.	.	.	.	.	T	0.30324	0.0761	N	0.17474	0.49	0.09310	N	1	B	0.22414	0.069	B	0.17722	0.019	T	0.16070	-1.0415	9	0.30854	T	0.27	.	9.8307	0.40939	0.0:0.9023:0.0:0.0977	.	992	D6RGV7	.	R	992	ENSP00000421191:G992R	ENSP00000322422:G891R	G	-	1	0	IGSF22	18687534	0.001000	0.12720	0.068000	0.19968	0.682000	0.39822	1.300000	0.33436	0.995000	0.38917	0.655000	0.94253	GGG	-	pfscan_Fibronectin_type3		0.582	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	C	NM_173588	-		18730958	-1	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	SNP	0.092	T	T	18730958	C	T	18730958	3	4	102	1	0	0	0	0	1	0	0	0	7602	623	22	2	1030	2	IGSF22	11	18730958	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3937445	18730958	116275558	407	6317											
NAV2	89797	genome.wustl.edu	37	chr11	20072841	20072841	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taactttcctacagtgacccGcaccttgataggaacacttt	6	12	0	2	rs376319838		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:20072841G>C	ENST00000396087.3	+	18	4611	c.4512G>C	c.(4510-4512)ccG>ccC	p.P1504P	NAV2_ENST00000349880.4_Silent_p.P1481P|NAV2_ENST00000540292.1_Silent_p.P1435P|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396085.1_Silent_p.P1481P|NAV2_ENST00000311043.8_Silent_p.P545P|NAV2_ENST00000533917.1_Silent_p.P545P|NAV2_ENST00000360655.4_Silent_p.P1417P|NAV2_ENST00000527559.2_Silent_p.P1433P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1504	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						ACAGTGACCCGCACCTTGATA	0.493																																																	0								ENSG00000166833						226	184	198					11																	20072841		2203	4300	6503	NAV2	SO:0001819	synonymous_variant	0			-	HGNC	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.4512G>C	11.37:g.20072841G>C		Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.P1504	ENST00000396087.3	37	c.4512	CCDS58126.1	11																																																																																			-	NULL		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	G	NM_145117	-		20072841	1	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	SNP	1.000	C	C	20072841	G	C	20072841	2	2	102	1	0	0	0	0	0	0	0	1	10186	1074	38	4		4	NAV2	11	20072841	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1341883	20072841	114933675	408	6318											
ANO5	203859	genome.wustl.edu	37	chr11	22279262	22279262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctctatacacgcgtattCcatggtactttctttcagga	7	11	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:22279262C>T	ENST00000324559.8	+	14	1686	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	457					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACGCGTATTCCATGGTACTT	0.373																																																	0								ENSG00000171714						163	152	155					11																	22279262		2203	4300	6503	ANO5	SO:0001583	missense	0			-	HGNC	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1369C>T	11.37:g.22279262C>T	ENSP00000315371:p.Pro457Ser	Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64		Missense_Mutation	SNP							pfam_Anoctamin	p.P457S	ENST00000324559.8	37	c.1369	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645552	0.14451	.	.	ENSG00000171714	ENST00000324559	T	0.62498	0.02	5.71	4.77	0.60923	.	0.459241	0.24544	N	0.037616	T	0.50939	0.1645	L	0.35288	1.05	0.31868	N	0.620119	B	0.09022	0.002	B	0.12156	0.007	T	0.50004	-0.8878	10	0.18276	T	0.48	.	16.2817	0.82692	0.0:0.6825:0.3175:0.0	.	457	Q75V66	ANO5_HUMAN	S	457	ENSP00000315371:P457S	ENSP00000315371:P457S	P	+	1	0	ANO5	22235838	1.000000	0.71417	0.971000	0.41717	0.496000	0.33645	3.592000	0.53993	2.701000	0.92244	0.460000	0.39030	CCA	-	pfam_Anoctamin		0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	protein_coding	OTTHUMT00000387615.1	C	NM_213599	-		22279262	1	no_errors	ENST00000324559	ensembl	human	known	74_37	missense	SNP	0.998	T	T	22279262	C	T	22279262	3	4	102	1	0	0	0	0	1	0	0	0	700	855	30	2	1423	2	ANO5	11	22279262	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2206421	22279262	112727254	409	6319											
ANO3	63982	genome.wustl.edu	37	chr11	26581287	26581287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatatttgttcgataatGgagggacagtcttctttgct	10	6	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:26581287G>A	ENST00000256737.3	+	14	2260	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	MUC15_ENST00000281268.8_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.G454R|MUC15_ENST00000455601.2_3'UTR|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000436318.2_3'UTR|ANO3_ENST00000525139.1_Missense_Mutation_p.G454R|ANO3_ENST00000531568.1_Missense_Mutation_p.G324R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	470					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						GTTCGATAATGGAGGGACAGT	0.343																																																	0								ENSG00000134343						299	274	282					11																	26581287		2202	4299	6501	ANO3	SO:0001583	missense	0			-	HGNC	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.1408G>A	11.37:g.26581287G>A	ENSP00000256737:p.Gly470Arg	Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	B7Z3F5	Missense_Mutation	SNP							pfam_Anoctamin	p.G470R	ENST00000256737.3	37	c.1408	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192321	0.78902	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.46	5.46	0.80206	.	0.051685	0.85682	D	0.000000	T	0.74831	0.3768	L	0.58583	1.82	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.73380	0.98;0.98	T	0.68021	-0.5519	10	0.17832	T	0.49	.	18.4396	0.90660	0.0:0.0:1.0:0.0	.	372;470	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	454;454;470;372;324	ENSP00000440737:G454R;ENSP00000432576:G454R;ENSP00000256737:G470R;ENSP00000432394:G324R	ENSP00000256737:G470R	G	+	1	0	ANO3	26537863	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.696000	0.84270	2.711000	0.92665	0.650000	0.86243	GGA	-	pfam_Anoctamin		0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	protein_coding	OTTHUMT00000387806.1	G	NM_031418	-		26581287	1	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26581287	G	A	26581287	3	1	102	1	0	0	0	0	1	0	0	0	698	1349	47	2	1462	2	ANO3	11	26581287	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4302025	26581287	108425229	410	6320											
KIAA0652	9776	genome.wustl.edu	37	chr11	46681022	46681022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccacctctttttccacctCcccaccatcccaggtagggg	6	18	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:46681022C>T	ENST00000434074.1	+	10	1465	c.776C>T	c.(775-777)tCc>tTc	p.S259F	ATG13_ENST00000451945.1_Missense_Mutation_p.S259F|ATG13_ENST00000312040.4_Missense_Mutation_p.S259F|ATG13_ENST00000528494.1_Missense_Mutation_p.S259F|ATG13_ENST00000359513.4_Missense_Mutation_p.S259F|ATG13_ENST00000529655.1_Missense_Mutation_p.S259F|ATG13_ENST00000530500.1_Missense_Mutation_p.S180F|ATG13_ENST00000526508.1_Missense_Mutation_p.S259F|ATG13_ENST00000524625.1_Missense_Mutation_p.S259F	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	259					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTTCCACCTCCCCACCATCC	0.443																																																	0								ENSG00000175224						83	75	77					11																	46681022		2201	4299	6500	ATG13	SO:0001583	missense	0			-	HGNC	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.776C>T	11.37:g.46681022C>T	ENSP00000400642:p.Ser259Phe	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP							pfam_Autophagy-rel_p13	p.S259F	ENST00000434074.1	37	c.776	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862004	0.91433	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.981;0.999;1.0;0.996	P;D;D;P	0.87578	0.642;0.996;0.998;0.885	T	0.78059	-0.2352	9	0.87932	D	0	-6.823	20.0118	0.97458	0.0:1.0:0.0:0.0	.	180;259;259;259	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	F	259;259;259;259;259;180;259;259;259;259	.	ENSP00000310321:S259F	S	+	2	0	ATG13	46637598	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.970000	0.76099	2.742000	0.94016	0.650000	0.86243	TCC	-	NULL		0.443	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	protein_coding	OTTHUMT00000390300.2	C	NM_014741	-		46681022	1	no_errors	ENST00000312040	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46681022	C	T	46681022	3	4	102	1	0	0	0	0	1	0	0	0	8190	855	30	2	810	2	KIAA0652	11	46681022	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	20099735	46681022	88325494	411	6321											
F2	2147	genome.wustl.edu	37	chr11	46750994	46750994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaaggagacgtggacaGccaacgttggtaaggggcag	16	8	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:46750994G>A	ENST00000311907.5	+	12	1593	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	F2_ENST00000530231.1_Missense_Mutation_p.A474T	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	513	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GACGTGGACAGCCAACGTTGG	0.617																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0								ENSG00000180210						116	97	103					11																	46750994		2201	4299	6500	F2	SO:0001583	missense	0			-	HGNC	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1537G>A	11.37:g.46750994G>A	ENSP00000308541:p.Ala513Thr	Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.A513T	ENST00000311907.5	37	c.1537	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.251746	0.00268	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.88431	-2.38;-2.38	5.76	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.292640	0.04726	N	0.420179	T	0.74215	0.3687	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63821	-0.6550	10	0.87932	D	0	.	2.1362	0.03763	0.44:0.1255:0.1215:0.3131	.	513	P00734	THRB_HUMAN	T	513;474	ENSP00000308541:A513T;ENSP00000433907:A474T	ENSP00000308541:A513T	A	+	1	0	F2	46707570	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.989000	0.01480	-3.780000	0.00108	-3.078000	0.00066	GCC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1		0.617	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	protein_coding	OTTHUMT00000317706.1	G		-		46750994	1	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	SNP	0.000	A	A	46750994	G	A	46750994	3	1	102	1	0	0	0	0	1	0	0	0	5344	971	34	2	1583	2	F2	11	46750994	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	69972	46750994	88255522	412	6322											
LRP4	4038	genome.wustl.edu	37	chr11	46905442	46905442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcccatgggttccaccacGatgtcccgaggacgatcaag	11	15	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:46905442G>A	ENST00000378623.1	-	19	2834	c.2592C>T	c.(2590-2592)atC>atT	p.I864I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	864					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)			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)		GTTCCACCACGATGTCCCGAG	0.537																																																	0								ENSG00000134569						215	167	183					11																	46905442		2201	4299	6500	LRP4	SO:0001819	synonymous_variant	0			-	HGNC	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.2592C>T	11.37:g.46905442G>A		Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP							pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I864	ENST00000378623.1	37	c.2592	CCDS31478.1	11																																																																																			-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	protein_coding	OTTHUMT00000391133.1	G	NM_002334	-		46905442	-1	no_errors	ENST00000378623	ensembl	human	known	74_37	silent	SNP	0.266	A	A	46905442	G	A	46905442	2	1	102	1	0	0	0	0	0	0	0	1	8961	1048	37	1		1	LRP4	11	46905442	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	154448	46905442	88101074	413	6323											
PTPRJ	5795	genome.wustl.edu	37	chr11	48177363	48177363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcacagatgatatttcCcgtgtcaaactttcggtcca	7	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:48177363C>T	ENST00000418331.2	+	20	3592	c.3240C>T	c.(3238-3240)tcC>tcT	p.S1080S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1080	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						ATGATATTTCCCGTGTCAAAC	0.383																																																	0								ENSG00000149177						80	74	76					11																	48177363		2201	4298	6499	PTPRJ	SO:0001819	synonymous_variant	0			-	HGNC	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.3240C>T	11.37:g.48177363C>T		Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S1080	ENST00000418331.2	37	c.3240	CCDS7945.1	11																																																																																			-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.383	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	C		-		48177363	1	no_errors	ENST00000418331	ensembl	human	known	74_37	silent	SNP	0.999	T	T	48177363	C	T	48177363	2	4	102	1	0	0	0	0	0	0	0	1	12812	610	22	2		2	PTPRJ	11	48177363	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1271921	48177363	86829153	414	6324											
OR4A47	403253	genome.wustl.edu	37	chr11	48511189	48511189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaccccaatgctgaaccCcttaatctacactctgagaa	4	14	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:48511189C>T	ENST00000446524.1	+	1	921	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATGCTGAACCCCTTAATCTAC	0.403																																																	0								ENSG00000237388						142	139	140					11																	48511189		2201	4295	6496	OR4A47	SO:0001583	missense	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.845C>T	11.37:g.48511189C>T	ENSP00000412752:p.Pro282Leu	Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282L	ENST00000446524.1	37	c.845	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	12.10	1.835808	0.32421	.	.	ENSG00000237388	ENST00000446524	T	0.63417	-0.04	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.74989	0.3789	H	0.96633	3.855	0.58432	D	0.999996	B	0.30542	0.284	B	0.30251	0.113	T	0.81313	-0.0989	10	0.87932	D	0	.	14.873	0.70474	0.0:1.0:0.0:0.0	.	282	Q6IF82	O4A47_HUMAN	L	282	ENSP00000412752:P282L	ENSP00000412752:P282L	P	+	2	0	OR4A47	48467765	0.991000	0.36638	0.910000	0.35882	0.156000	0.22039	5.055000	0.64282	2.082000	0.62665	0.205000	0.17691	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.403	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	C	NM_001005512	-		48511189	1	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	SNP	0.998	T	T	48511189	C	T	48511189	3	4	102	1	0	0	0	0	1	0	0	0	11044	623	22	2	847	2	OR4A47	11	48511189	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	333826	48511189	86495327	415	6325											
OR4C46	119749	genome.wustl.edu	37	chr11	51516172	51516172	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatgaaaaatgccatcagGaaattgtgtagtagaaagga	11	4	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:51516172G>A	ENST00000328188.1	+	1	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCATCAGGAAATTGTGTA	0.348																																																	0								ENSG00000185926						45	39	41					11																	51516172		2197	4286	6483	OR4C46	SO:0001819	synonymous_variant	0			-	HGNC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.891G>A	11.37:g.51516172G>A		Somatic	0	32	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R297	ENST00000328188.1	37	c.891	CCDS31498.1	11																																																																																			-	NULL		0.348	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	protein_coding	OTTHUMT00000391155.1	G	NM_001004703	-		51516172	1	no_errors	ENST00000328188	ensembl	human	known	74_37	silent	SNP	0.335	A	A	51516172	G	A	51516172	2	1	102	1	0	0	0	0	0	0	0	1	11053	1165	41	2		2	OR4C46	11	51516172	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3004983	51516172	83490344	416	6326											
OR4C15	81309	genome.wustl.edu	37	chr11	55322305	55322305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacagccatggcctatgatCgttatgtggccatttgcaag	10	10	1	1	rs267602969		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:55322305C>T	ENST00000314644.2	+	1	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507										HNSCC(20;0.049)																																							0								ENSG00000181939						124	112	116					11																	55322305		2201	4296	6497	OR4C15	SO:0001583	missense	0			-	HGNC	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.523C>T	11.37:g.55322305C>T	ENSP00000324958:p.Arg175Cys	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q6IFE2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R175C	ENST00000314644.2	37	c.523	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173339	0.38413	.	.	ENSG00000181939	ENST00000314644	T	0.77358	-1.09	5.12	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75838	0.3904	M	0.85542	2.76	0.36725	D	0.881385	P	0.37352	0.591	B	0.23419	0.046	D	0.84115	0.0403	9	0.72032	D	0.01	.	12.9126	0.58189	0.1621:0.8379:0.0:0.0	.	121	Q8NGM1	OR4CF_HUMAN	C	175	ENSP00000324958:R175C	ENSP00000324958:R175C	R	+	1	0	OR4C15	55078881	0.184000	0.23200	0.987000	0.45799	0.774000	0.43823	0.952000	0.29149	2.665000	0.90641	0.385000	0.25706	CGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	C	NM_001001920	-		55322305	1	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	SNP	0.966	T	T	55322305	C	T	55322305	3	4	102	1	0	0	0	0	1	0	0	0	11050	884	31	1	525	1	OR4C15	11	55322305	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3806133	55322305	79684211	417	6327											
OR5L1	219437	genome.wustl.edu	37	chr11	55579026	55579026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttgagagtctgcctcttCctgctgttccttctcatcta	8	12	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:55579026C>T	ENST00000333973.2	+	1	173	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28F(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.488																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000186117						243	222	229					11																	55579026		2200	4294	6494	OR5L1	SO:0001819	synonymous_variant	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.84C>T	11.37:g.55579026C>T		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	B2RNK6|Q6IFD0	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F28	ENST00000333973.2	37	c.84	CCDS31509.1	11																																																																																			-	prints_GPCR_Rhodpsn		0.488	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	C	NM_001004738	-		55579026	1	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55579026	C	T	55579026	2	4	102	1	0	0	0	0	0	0	0	1	11172	854	30	2		2	OR5L1	11	55579026	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	256721	55579026	79427490	418	6328											
OR9Q2	219957	genome.wustl.edu	37	chr11	57958889	57958889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccctgagcaaatcaaaGcctgctagaagaccctaaat	7	11	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:57958889G>A	ENST00000311591.3	+	1	984	c.927G>A	c.(925-927)aaG>aaA	p.K309K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	309						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(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCAAATCAAAGCCTGCTAGAA	0.448																																																	0								ENSG00000186513						53	55	54					11																	57958889		2201	4296	6497	OR9Q2	SO:0001819	synonymous_variant	0			-	HGNC	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.927G>A	11.37:g.57958889G>A		Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K309	ENST00000311591.3	37	c.927	CCDS31544.1	11																																																																																			-	NULL		0.448	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q2	protein_coding	OTTHUMT00000394540.1	G	NM_001005283	-		57958889	1	no_errors	ENST00000311591	ensembl	human	known	74_37	silent	SNP	0.000	A	A	57958889	G	A	57958889	2	1	102	1	0	0	0	0	0	0	0	1	11258	962	34	2		2	OR9Q2	11	57958889	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2379863	57958889	77047627	419	6329											
OR5A2	219981	genome.wustl.edu	37	chr11	59189645	59189645	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtagctggaactgggtcgcAtgtacatgaagaatccagaa	12	7	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:59189645A>T	ENST00000302040.4	-	1	804	c.782T>A	c.(781-783)aTg>aAg	p.M261K		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGGGTCGCATGTACATGAA	0.498																																																	0								ENSG00000172324						94	90	91					11																	59189645		2201	4295	6496	OR5A2	SO:0001583	missense	0			-	HGNC	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.782T>A	11.37:g.59189645A>T	ENSP00000303834:p.Met261Lys	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M261K	ENST00000302040.4	37	c.782	CCDS31560.1	11	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839159	0.91117	.	.	ENSG00000172324	ENST00000302040	T	0.37411	1.2	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	U	0.000722	T	0.55210	0.1906	M	0.86953	2.85	0.09310	N	1	P	0.41624	0.757	P	0.48524	0.58	T	0.58808	-0.7571	10	0.87932	D	0	.	13.9585	0.64164	1.0:0.0:0.0:0.0	.	261	Q8NGI9	OR5A2_HUMAN	K	261	ENSP00000303834:M261K	ENSP00000303834:M261K	M	-	2	0	OR5A2	58946221	0.064000	0.20934	0.026000	0.17262	0.983000	0.72400	2.462000	0.45049	2.249000	0.74217	0.528000	0.53228	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	protein_coding	OTTHUMT00000394552.1	A	NM_001001954	-		59189645	-1	no_errors	ENST00000302040	ensembl	human	known	74_37	missense	SNP	0.069	T	T	59189645	A	T	59189645	3	4	102	1	0	0	0	0	1	0	0	0	11142	217	8	5	194	5	OR5A2	11	59189645	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	1230756	59189645	75816871	420	6330											
STX3	6809	genome.wustl.edu	37	chr11	59540716	59540716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgatgatactgatgcGgttgagattgctatcgacaa	12	6	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:59540716G>A	ENST00000337979.4	+	2	610	c.63G>A	c.(61-63)gcG>gcA	p.A21A	STX3_ENST00000535361.1_Silent_p.A21A|STX3_ENST00000437946.2_5'UTR|STX3_ENST00000300150.7_5'UTR|STX3_ENST00000529177.1_Silent_p.A21A	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	21					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.A21A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATACTGATGCGGTTGAGATTG	0.388																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000166900						224	209	214					11																	59540716		2201	4295	6496	STX3	SO:0001819	synonymous_variant	0			-	HGNC	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.63G>A	11.37:g.59540716G>A		Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B4DME0|O43750|O43751|Q15360	Silent	SNP							pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A21	ENST00000337979.4	37	c.63	CCDS7975.1	11																																																																																			-	NULL		0.388	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	protein_coding	OTTHUMT00000394264.1	G	NM_004177	-		59540716	1	no_errors	ENST00000337979	ensembl	human	known	74_37	silent	SNP	0.989	A	A	59540716	G	A	59540716	2	1	102	1	0	0	0	0	0	0	0	1	15353	1103	39	1		1	STX3	11	59540716	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	351071	59540716	75465800	421	6331											
MS4A4A	51338	genome.wustl.edu	37	chr11	60068484	60068484	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatttttagtttattatttCaggatccttgtcaattgcag	6	6	3	0	rs200557697		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:60068484C>T	ENST00000337908.4	+	4	431	c.341C>T	c.(340-342)tCa>tTa	p.S114L	MS4A4A_ENST00000355131.3_Missense_Mutation_p.S95L|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S114L|MS4A4A_ENST00000395016.3_Missense_Mutation_p.S95L	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	114						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTATTATTTCAGGATCCTTG	0.274																																																	0								ENSG00000110079						72	74	73					11																	60068484		2203	4300	6503	MS4A4A	SO:0001583	missense	0			-	HGNC	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"membrane-spanning 4-domains, subfamily A, member 4"	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.341C>T	11.37:g.60068484C>T	ENSP00000338648:p.Ser114Leu	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP							pfam_CD20-like	p.S114L	ENST00000337908.4	37	c.341	CCDS7982.1	11	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716351	0.68844	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	4.3	4.3	0.51218	.	0.084913	0.48286	D	0.000187	T	0.23289	0.0563	M	0.92970	3.365	0.35710	D	0.816283	D;P	0.89917	1.0;0.751	D;B	0.91635	0.999;0.399	T	0.38090	-0.9677	10	0.87932	D	0	-16.519	12.4643	0.55749	0.0:1.0:0.0:0.0	.	114;114	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	L	114;114;95;95	ENSP00000434506:S114L;ENSP00000338648:S114L;ENSP00000347252:S95L;ENSP00000378462:S95L	ENSP00000338648:S114L	S	+	2	0	MS4A4A	59825060	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	3.152000	0.50677	2.407000	0.81776	0.467000	0.42956	TCA	-	pfam_CD20-like		0.274	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	MS4A4A	protein_coding	OTTHUMT00000337774.2	C		-		60068484	1	no_errors	ENST00000337908	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60068484	C	T	60068484	3	4	102	1	0	0	0	0	1	0	0	0	9864	838	29	2	355	2	MS4A4A	11	60068484	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	527768	60068484	74938032	422	6332											
AHNAK	79026	genome.wustl.edu	37	chr11	62298205	62298205	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcctttgatttcaacAtctggcactttcatttcacc	6	11	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:62298205A>T	ENST00000378024.4	-	5	3958	c.3684T>A	c.(3682-3684)gaT>gaA	p.D1228E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1228					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATTTCAACATCTGGCACTT	0.488																																																	0								ENSG00000124942						286	295	292					11																	62298205		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3684T>A	11.37:g.62298205A>T	ENSP00000367263:p.Asp1228Glu	Somatic	0	182	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1228E	ENST00000378024.4	37	c.3684	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	a	1.859	-0.463098	0.04476	.	.	ENSG00000124942	ENST00000378024	T	0.01228	5.14	5.01	-2.2	0.06994	.	0.171164	0.27618	N	0.018572	T	0.00845	0.0028	N	0.20574	0.59	0.09310	N	0.999999	B	0.15473	0.013	B	0.21708	0.036	T	0.47812	-0.9088	10	0.18710	T	0.47	.	2.2232	0.03978	0.236:0.2123:0.0742:0.4775	.	1228	Q09666	AHNK_HUMAN	E	1228	ENSP00000367263:D1228E	ENSP00000367263:D1228E	D	-	3	2	AHNAK	62054781	0.000000	0.05858	0.968000	0.41197	0.132000	0.20833	-0.951000	0.03885	-0.057000	0.13199	0.528000	0.53228	GAT	-	NULL		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	A	NM_024060	-		62298205	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	0.155	T	T	62298205	A	T	62298205	3	4	102	1	0	0	0	0	1	0	0	0	414	214	8	5	14108	5	AHNAK	11	62298205	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	2229721	62298205	72708311	423	6333											
SLC22A8	9376	genome.wustl.edu	37	chr11	62761059	62761059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggggacaccatgcttcCcacgcgggtccacaggttac	12	15	0	0	rs149538913		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:62761059C>T	ENST00000336232.2	-	10	1501	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G333R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G456R|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G365R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G456R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	456					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACCATGCTTCCCACGCGGGTC	0.582																																																	0								ENSG00000149452	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4401	2.1+/-5.4	0,1,2200	76	75	75		1366,1093,997,1366	5.9	1	11	dbSNP_134	75	0,8596		0,0,4298	no	missense,missense,missense,missense	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	125,125,125,125	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	456/543,365/452,333/420,456/543	62761059	1,12997	2201	4298	6499	SLC22A8	SO:0001583	missense	0			-	HGNC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1366G>A	11.37:g.62761059C>T	ENSP00000337335:p.Gly456Arg	Somatic	0	34	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G456R	ENST00000336232.2	37	c.1366	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013334	0.93346	2.27E-4	0.0	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	H	0.96430	3.82	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91138	0.4943	10	0.87932	D	0	.	17.7642	0.88473	0.0:1.0:0.0:0.0	.	456;456	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	R	456;442;365;333;456;456	ENSP00000337335:G456R;ENSP00000441658:G365R;ENSP00000443368:G333R;ENSP00000311463:G456R;ENSP00000398548:G456R	ENSP00000311463:G456R	G	-	1	0	SLC22A8	62517635	0.997000	0.39634	0.982000	0.44146	0.983000	0.72400	6.302000	0.72788	2.793000	0.96121	0.591000	0.81541	GGA	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	C	NM_004254	rs149538913		62761059	-1	no_errors	ENST00000336232	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62761059	C	T	62761059	3	4	102	1	0	0	0	0	1	0	0	0	14468	632	22	2	270	2	SLC22A8	11	62761059	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	462854	62761059	72245457	424	6334											
SLC22A25	387601	genome.wustl.edu	37	chr11	62931545	62931545	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattccagtagctcttccCcttggagtaaaaacagcaac	8	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:62931545C>T	ENST00000306494.6	-	9	1394	c.1395G>A	c.(1393-1395)agG>agA	p.R465R	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGCTCTTCCCCTTGGAGTAA	0.403																																																	0								ENSG00000196600						105	116	112					11																	62931545		2201	4298	6499	SLC22A25	SO:0001630	splice_region_variant	0			-	HGNC	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1395-1G>A	11.37:g.62931545C>T		Somatic	0	26	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22		Silent	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R465	ENST00000306494.6	37	c.1395	CCDS31592.1	11																																																																																			-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.403	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	protein_coding	OTTHUMT00000383519.3	C	NM_199352	-	Silent	62931545	-1	no_errors	ENST00000306494	ensembl	human	known	74_37	silent	SNP	0.880	T	T	62931545	C	T	62931545	5	4	102	1	0	0	0	0	0	0	1	0	14462	637	22	2	252	2	SLC22A25	11	62931545	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	170486	62931545	72074971	425	6335											
HRASLS5	117245	genome.wustl.edu	37	chr11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatctcaatcaggtctcCaggtctgggtcttggttttc	9	9	5	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:63235916C>A	ENST00000301790.4	-	4	556	c.397G>T	c.(397-399)Gga>Tga	p.G133*	HRASLS5_ENST00000540857.1_Nonsense_Mutation_p.G123*|HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133							transferase activity, transferring acyl groups (GO:0016746)	p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443																																																	2	Substitution - Nonsense(2)	lung(2)						ENSG00000168004						112	110	111					11																	63235916		2201	4298	6499	HRASLS5	SO:0001587	stop_gained	0			-	HGNC	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.397G>T	11.37:g.63235916C>A	ENSP00000301790:p.Gly133*	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	38.89	B7X6T1|F5GZ87|F5H4Y9	Nonsense_Mutation	SNP							pfam_LRAT-like_dom	p.G133*	ENST00000301790.4	37	c.397	CCDS8044.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.737694	0.96865	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	.	.	.	4.37	4.37	0.52481	.	0.251271	0.39083	N	0.001466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2779	12.7263	0.57173	0.0:1.0:0.0:0.0	.	.	.	.	X	123;133;133	.	ENSP00000301790:G133X	G	-	1	0	HRASLS5	62992492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.715000	0.92844	0.561000	0.74099	GGA	-	NULL		0.443	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	protein_coding	OTTHUMT00000396375.1	C	NM_054108	-		63235916	-1	no_errors	ENST00000301790	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	63235916	C	A	63235916	4	1	102	1	0	0	0	0	0	1	0	0	7353	603	21	3	454	3	HRASLS5	11	63235916	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	304371	63235916	71770600	426	6336											
CCDC88B	283234	genome.wustl.edu	37	chr11	64111796	64111796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccggagaaggctggccgtAgatcctctctccagagccct	11	16	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:64111796A>G	ENST00000356786.5	+	14	1827	c.1783A>G	c.(1783-1785)Aga>Gga	p.R595G	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	595						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTGGCCGTAGATCCTCTCT	0.637																																																	0								ENSG00000168071						34	38	37					11																	64111796		2201	4297	6498	CCDC88B	SO:0001583	missense	0			-	HGNC	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1783A>G	11.37:g.64111796A>G	ENSP00000349238:p.Arg595Gly	Somatic	0	114	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	44	37.14	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP							pfam_Hook-related_fam	p.R595G	ENST00000356786.5	37	c.1783	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	a	8.721	0.914389	0.17907	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26223	1.75	3.78	0.411	0.16392	.	.	.	.	.	T	0.09468	0.0233	N	0.02916	-0.46	0.19300	N	0.999971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.36696	-0.9737	9	0.22706	T	0.39	.	6.9396	0.24486	0.5711:0.0:0.4289:0.0	.	595;244;595	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	G	595	ENSP00000349238:R595G	ENSP00000349238:R595G	R	+	1	2	CCDC88B	63868372	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	0.667000	0.25112	-0.043000	0.13513	-0.484000	0.04775	AGA	-	NULL		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	protein_coding	OTTHUMT00000104845.1	A	NM_032251	-		64111796	1	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	SNP	0.004	G	G	64111796	A	G	64111796	3	3	102	1	0	0	0	0	1	0	0	0	2866	412	15	5	1837	5	CCDC88B	11	64111796	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	875880	64111796	70894720	427	6337											
SF1	7536	genome.wustl.edu	37	chr11	64532986	64532986	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgccgccgcggggagGgatcctggcggcccggtttg	18	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:64532986G>A	ENST00000377390.3	-	0	2561				SF1_ENST00000489544.1_5'Flank|SF1_ENST00000227503.9_Silent_p.S529S|SF1_ENST00000377387.1_Silent_p.S654S|SF1_ENST00000334944.5_Missense_Mutation_p.P598S|SF1_ENST00000422298.2_Silent_p.S414S|SF1_ENST00000377394.3_Missense_Mutation_p.P531S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCGCGGGGAGGGATCCTGGCG	0.642																																																	0								ENSG00000168066						55	66	62					11																	64532986		2201	4297	6498	SF1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.*304C>T	11.37:g.64532986G>A		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	14.89	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.P598S	ENST00000377390.3	37	c.1792	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425809	0.43020	.	.	ENSG00000168066	ENST00000377394;ENST00000334944	T;T	0.64085	-0.08;0.94	5.54	5.54	0.83059	.	.	.	.	.	T	0.48995	0.1531	.	.	.	0.80722	D	1	B;B	0.24920	0.014;0.114	B;B	0.16289	0.015;0.011	T	0.40701	-0.9549	7	.	.	.	.	14.9859	0.71348	0.0:0.0:1.0:0.0	.	531;598	Q15637-6;Q15637-2	.;.	S	531;598	ENSP00000366611:P531S;ENSP00000334414:P598S	.	P	-	1	0	SF1	64289562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.242000	0.51384	2.607000	0.88179	0.462000	0.41574	CCT	-	NULL		0.642	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	protein_coding	OTTHUMT00000143242.1	G	NM_004630	-		64532986	-1	no_errors	ENST00000334944	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64532986	G	A	64532986	1	1	102	0	1	0	0	0	0	0	0	0	14153	1232	43	2		2	SF1	11	64532986	3'UTR	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	421190	64532986	70473530	428	6338											
LTBP3	4054	genome.wustl.edu	37	chr11	65325325	65325326	+	In_Frame_Ins	INS	-	-	CAGCAG													tcgaccctgccgcccaggccINScagcagcagcagcagcagca					rs535365850|rs577530923|rs71036212	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:65325325_65325326insCAGCAG	ENST00000301873.5	-	1	373_374	c.105_106insCTGCTG	c.(103-108)ctgggc>ctgCTGCTGggc	p.34_35insLL	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Ins_p.34_35insLL	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	34	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						ccgcccaggcccagcagcagca	0.812														259	0.0517173	0.0182	0.0504	5008	,	,		4999	0.0258		0.1034	False		,,,				2504	0.0716																0								ENSG00000168056																																			LTBP3	SO:0001652	inframe_insertion	0				HGNC	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.100_105dupCTGCTG	11.37:g.65325326_65325331dupCAGCAG	ENSP00000301873:p.Leu33_Leu34dup	Somatic					0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Ins	INS							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.35in_frame_insLL	ENST00000301873.5	37	c.106_105	CCDS44647.1	11																																																																																			-	NULL		0.812	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	-	NM_021070			65325326	-1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_ins	INS	1.000:0.996	CAGCAG	CAGCAG	65325326	-	CAGCAG	65325325	7	5	102	1	0	1	1	0	0	0	0	0	9077	623	22	0	3917	0	LTBP3	11	65325325	In_Frame_Ins	INS	-	TCGA-DX-A8BP-01A-11D-A37C-09	792339	65325325	69681191	429	6339											
RBM14	10432	genome.wustl.edu	37	chr11	66384354	66384354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcgcgccatcgaagccCtgcacggccacgagctgcgg	14	17	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:66384354C>T	ENST00000310137.4	+	1	302	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	RBM14_ENST00000443702.1_Silent_p.L55L|RBM14_ENST00000409372.1_Silent_p.L55L|RBM14-RBM4_ENST00000500635.2_Silent_p.L55L|RBM14_ENST00000409738.4_Silent_p.L55L|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Silent_p.L55L|RBM14-RBM4_ENST00000412278.2_Silent_p.L55L|RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000514361.3_Silent_p.L55L	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATCGAAGCCCTGCACGGCCA	0.652																																																	0								ENSG00000239306						33	39	37					11																	66384354		2195	4288	6483	RBM14	SO:0001819	synonymous_variant	0			-	HGNC	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.163C>T	11.37:g.66384354C>T		Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	39	40.00	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L55	ENST00000310137.4	37	c.163	CCDS8147.1	11																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.652	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	protein_coding	OTTHUMT00000277128.1	C	NM_006328	-		66384354	1	no_errors	ENST00000310137	ensembl	human	known	74_37	silent	SNP	1.000	T	T	66384354	C	T	66384354	2	4	102	1	0	0	0	0	0	0	0	1	13123	680	24	2		2	RBM14	11	66384354	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1059029	66384354	68622162	430	6340											
CARNS1	57571	genome.wustl.edu	37	chr11	67191590	67191590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgttgcctgggctgcGggttgctcgatggagtcttc	15	11	1	0	rs371868488		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67191590G>A	ENST00000307823.3	+	9	2454	c.2002G>A	c.(2002-2004)Ggg>Agg	p.G668R	CARNS1_ENST00000531040.1_Missense_Mutation_p.G765R|CARNS1_ENST00000423745.2_Missense_Mutation_p.G668R|CARNS1_ENST00000445895.2_Missense_Mutation_p.G791R	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	668	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCTGGGCTGCGGGTTGCTCGA	0.647																																																	0								ENSG00000172508	G	ARG/GLY,ARG/GLY	0,4216		0,0,2108	39	43	42		2371,2002	5.2	1	11		42	1,8443		0,1,4221	no	missense,missense	CARNS1	NM_001166222.1,NM_020811.1	125,125	0,1,6329	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	791/951,668/828	67191590	1,12659	2108	4222	6330	CARNS1	SO:0001583	missense	0			-	HGNC		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.2002G>A	11.37:g.67191590G>A	ENSP00000308268:p.Gly668Arg	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP							superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.G791R	ENST00000307823.3	37	c.2371	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873847	0.72180	0.0	1.18E-4	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	5.25	5.25	0.73442	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);ATP-grasp fold, subdomain 2 (1);	0.095175	0.43919	D	0.000519	D	0.99217	0.9728	M	0.87547	2.89	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99478	1.0947	10	0.87932	D	0	-35.718	17.6161	0.88068	0.0:0.0:1.0:0.0	.	668;807	A5YM72;A5YM72-3	CRNS1_HUMAN;.	R	765;668;765;668;791	ENSP00000431670:G765R;ENSP00000308268:G668R;ENSP00000401519:G668R;ENSP00000389009:G791R	ENSP00000308268:G668R	G	+	1	0	CARNS1	66948166	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	5.231000	0.65327	2.467000	0.83353	0.549000	0.68633	GGG	-	pfscan_ATP-grasp		0.647	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	protein_coding	OTTHUMT00000395501.1	G	NM_020811	-		67191590	1	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	SNP	0.998	A	A	67191590	G	A	67191590	3	1	102	1	0	0	0	0	1	0	0	0	2658	1116	39	1	2405	1	CARNS1	11	67191590	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	807236	67191590	67814926	431	6341											
GPR152	390212	genome.wustl.edu	37	chr11	67219867	67219867	+	Missense_Mutation	SNP	A	A	G													aggagtaggacacgccccatAggaagtagtagaagcggcag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67219867A>G	ENST00000312457.2	-	1	333	c.329T>C	c.(328-330)cTa>cCa	p.L110P	CABP4_ENST00000438189.2_5'Flank|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CACGCCCCATAGGAAGTAGTA	0.662																																					Pancreas(102;800 1581 2723 7382 33622)												0								ENSG00000175514						21	22	22					11																	67219867		2199	4291	6490	GPR152	SO:0001583	missense	0			-	HGNC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.329T>C	11.37:g.67219867A>G	ENSP00000310255:p.Leu110Pro	Somatic	0	118	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	77	14.44	Q0VD88|Q86SM0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L110P	ENST00000312457.2	37	c.329	CCDS8165.1	11	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224287	0.58668	.	.	ENSG00000175514	ENST00000312457	T	0.47177	0.85	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31709	N	0.007191	T	0.60248	0.2254	L	0.56199	1.76	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.63152	-0.6701	10	0.87932	D	0	.	8.7542	0.34635	0.8087:0.1913:0.0:0.0	.	110	Q8TDT2	GP152_HUMAN	P	110	ENSP00000310255:L110P	ENSP00000310255:L110P	L	-	2	0	GPR152	66976443	0.826000	0.29277	1.000000	0.80357	0.968000	0.65278	2.774000	0.47694	2.055000	0.61198	0.459000	0.35465	CTA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.662	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	protein_coding	OTTHUMT00000397623.1	A		-		67219867	-1	no_errors	ENST00000312457	ensembl	human	known	74_37	missense	SNP	1.000	G	G	67219867	A	G	67219867	3	3	102	1	0	0	0	0	1	0	0	0	6660	420	15	5	1087	5	GPR152	11	67219867	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	28277	67219867	67786649	432	6342	84	2									
GPR152	390212	genome.wustl.edu	37	chr11	67219868	67219868	+	Missense_Mutation	SNP	G	G	T													ggagtaggacacgccccataGgaagtagtagaagcggcagg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67219868G>T	ENST00000312457.2	-	1	332	c.328C>A	c.(328-330)Cta>Ata	p.L110I	CABP4_ENST00000438189.2_5'Flank|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACGCCCCATAGGAAGTAGTAG	0.657																																					Pancreas(102;800 1581 2723 7382 33622)												0								ENSG00000175514						21	22	22					11																	67219868		2197	4291	6488	GPR152	SO:0001583	missense	0			-	HGNC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.328C>A	11.37:g.67219868G>T	ENSP00000310255:p.Leu110Ile	Somatic	0	119	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	78	14.29	Q0VD88|Q86SM0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L110I	ENST00000312457.2	37	c.328	CCDS8165.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903280	0.52333	.	.	ENSG00000175514	ENST00000312457	T	0.40756	1.02	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31709	N	0.007191	T	0.38772	0.1053	N	0.12853	0.265	0.35203	D	0.774431	D	0.61080	0.989	D	0.65010	0.931	T	0.41610	-0.9499	10	0.23302	T	0.38	.	9.0748	0.36515	0.0976:0.0:0.9024:0.0	.	110	Q8TDT2	GP152_HUMAN	I	110	ENSP00000310255:L110I	ENSP00000310255:L110I	L	-	1	2	GPR152	66976444	0.838000	0.29461	1.000000	0.80357	0.972000	0.66771	1.154000	0.31688	2.542000	0.85734	0.561000	0.74099	CTA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	protein_coding	OTTHUMT00000397623.1	G		-		67219868	-1	no_errors	ENST00000312457	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67219868	G	T	67219868	3	4	102	1	0	0	0	0	1	0	0	0	6660	991	35	3	1088	3	GPR152	11	67219868	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	67219868	67786648	433	6343	84	2									
UNC93B1	81622	genome.wustl.edu	37	chr11	67763181	67763181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgaggcacaggggcccAgaaaaagaggatgaaggtga	16	8	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67763181A>G	ENST00000227471.2	-	10	1340	c.1261T>C	c.(1261-1263)Tgg>Cgg	p.W421R	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	422					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											ACAGGGGCCCAGAAAAAGAGG	0.657																																																	0								ENSG00000110057						7	8	7					11																	67763181		1811	3811	5622	UNC93B1	SO:0001583	missense	0			-	HGNC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1261T>C	11.37:g.67763181A>G	ENSP00000227471:p.Trp421Arg	Somatic	0	266	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	142	20.22	O95764|Q569H6|Q710D4	Missense_Mutation	SNP							pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.W421R	ENST00000227471.2	37	c.1261		11	.	.	.	.	.	.	.	.	.	.	.	16.21	3.059516	0.55325	.	.	ENSG00000110057	ENST00000227471	T	0.16597	2.33	5.44	5.44	0.79542	.	0.125939	0.64402	D	0.000014	T	0.25938	0.0632	L	0.32530	0.975	0.58432	D	0.99999	D	0.67145	0.996	P	0.57548	0.823	T	0.01033	-1.1474	10	0.48119	T	0.1	-16.17	14.3284	0.66534	1.0:0.0:0.0:0.0	.	422	Q9H1C4	UN93B_HUMAN	R	421	ENSP00000227471:W421R	ENSP00000227471:W421R	W	-	1	0	UNC93B1	67519757	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	6.776000	0.75023	2.074000	0.62210	0.454000	0.30748	TGG	-	NULL		0.657	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		A	NM_030930	-		67763181	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	SNP	1.000	G	G	67763181	A	G	67763181	3	3	102	1	0	0	0	0	1	0	0	0	17004	188	7	5	541	5	UNC93B1	11	67763181	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	543313	67763181	67243335	434	6344											
CHRDL2	25884	genome.wustl.edu	37	chr11	74415582	74415582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagttgtgctgcctgctcCcttgggtctgaagtggcgag	15	10	1	1	rs375274932		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:74415582C>T	ENST00000376332.3	-	7	1196	c.700G>A	c.(700-702)Gga>Aga	p.G234R	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.G234R	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	234					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGCCTGCTCCCTTGGGTCTG	0.607																																																	0								ENSG00000054938						81	77	79					11																	74415582		2200	4293	6493	CHRDL2	SO:0001583	missense	0			-	HGNC	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.700G>A	11.37:g.74415582C>T	ENSP00000365510:p.Gly234Arg	Somatic	0	82	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP							pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.G234R	ENST00000376332.3	37	c.700		11	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313099	0.60414	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.63580	0.79;0.83;-0.05	5.54	3.67	0.42095	.	0.114105	0.64402	D	0.000013	T	0.70945	0.3282	M	0.75615	2.305	0.09310	N	0.999999	B;D;D	0.58970	0.003;0.984;0.975	B;P;P	0.58970	0.006;0.849;0.849	T	0.60944	-0.7162	10	0.29301	T	0.29	-5.6143	9.4287	0.38597	0.0:0.8294:0.0:0.1706	.	234;234;234	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	R	234;234;120;118;234	ENSP00000263671:G234R;ENSP00000365510:G234R;ENSP00000431380:G234R	ENSP00000263671:G234R	G	-	1	0	CHRDL2	74093230	0.877000	0.30153	0.124000	0.21820	0.754000	0.42855	3.891000	0.56227	1.342000	0.45619	0.462000	0.41574	GGA	-	NULL		0.607	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	protein_coding	OTTHUMT00000385391.1	C		-		74415582	-1	no_errors	ENST00000263671	ensembl	human	known	74_37	missense	SNP	0.014	T	T	74415582	C	T	74415582	3	4	102	1	0	0	0	0	1	0	0	0	3376	632	22	2	679	2	CHRDL2	11	74415582	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6652401	74415582	60590934	435	6345											
RNF169	254225	genome.wustl.edu	37	chr11	74521252	74521252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaagaaaagttacaagaGgaaaaaccctctgaagatca	9	6	2	5			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:74521252G>A	ENST00000299563.4	+	3	613	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	200					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AGTTACAAGAGGAAAAACCCT	0.323																																																	0								ENSG00000166439						83	80	81					11																	74521252		1803	4070	5873	RNF169	SO:0001819	synonymous_variant	0			-	HGNC	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.600G>A	11.37:g.74521252G>A		Somatic	0	29	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	Q6N015	Silent	SNP							smart_Znf_RING,pfscan_Znf_RING	p.E200	ENST00000299563.4	37	c.600	CCDS41691.1	11																																																																																			-	NULL		0.323	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	protein_coding	OTTHUMT00000384741.1	G	XM_495886	-		74521252	1	no_errors	ENST00000299563	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74521252	G	A	74521252	2	1	102	1	0	0	0	0	0	0	0	1	13468	991	35	2		2	RNF169	11	74521252	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	105670	74521252	60485264	436	6346											
DRD2	1813	genome.wustl.edu	37	chr11	113283521	113283521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggtggtggctgggtgGgatggggctgtaccgggtcc	21	8	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:113283521G>A	ENST00000362072.3	-	7	1239	c.895C>T	c.(895-897)Cca>Tca	p.P299S	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.P270S|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.P299S|DRD2_ENST00000355319.2_Missense_Mutation_p.P301S|DRD2_ENST00000544518.1_Missense_Mutation_p.P298S|DRD2_ENST00000538967.1_Missense_Mutation_p.P301S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	299	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)			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)	TGGCTGGGTGGGATGGGGCTG	0.662																																																	0								ENSG00000149295						63	59	60					11																	113283521		2201	4296	6497	DRD2	SO:0001583	missense	0			-	HGNC	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.895C>T	11.37:g.113283521G>A	ENSP00000354859:p.Pro299Ser	Somatic	0	137	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	Q9NZR3|Q9UPA9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.P301S	ENST00000362072.3	37	c.901	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752332	0.31046	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72394	-0.64;-0.62;-0.62;-0.65;-0.62;-0.64	5.73	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.205863	0.52532	D	0.000071	T	0.52645	0.1747	L	0.31752	0.955	0.34217	D	0.674947	B;B;B	0.13145	0.007;0.007;0.003	B;B;B	0.14023	0.01;0.003;0.006	T	0.53251	-0.8465	10	0.09590	T	0.72	.	9.4873	0.38937	0.0795:0.4219:0.4986:0.0	.	298;270;299	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	S	301;270;299;298;299;301	ENSP00000347474:P301S;ENSP00000278597:P270S;ENSP00000354859:P299S;ENSP00000441068:P298S;ENSP00000442172:P299S;ENSP00000438215:P301S	ENSP00000278597:P270S	P	-	1	0	DRD2	112788731	0.939000	0.31865	0.971000	0.41717	0.981000	0.71138	0.939000	0.28978	1.430000	0.47334	0.655000	0.94253	CCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.662	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795	-		113283521	-1	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	SNP	0.848	A	A	113283521	G	A	113283521	3	1	102	1	0	0	0	0	1	0	0	0	4759	1232	43	2	444	2	DRD2	11	113283521	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	38762269	113283521	21722995	437	6347											
DSCAML1	57453	genome.wustl.edu	37	chr11	117392047	117392047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctggggagcccgtcagGgcacaggagaggatgaccgt	16	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:117392047G>A	ENST00000321322.6	-	6	1192	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	DSCAML1_ENST00000527706.1_Silent_p.A127A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	337	Ig-like C2-type 4.				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)		AGCCCGTCAGGGCACAGGAGA	0.637																																																	0								ENSG00000177103						57	51	53					11																	117392047		2201	4296	6497	DSCAML1	SO:0001819	synonymous_variant	0			-	HGNC		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.1191C>T	11.37:g.117392047G>A		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A397	ENST00000321322.6	37	c.1191	CCDS8384.1	11																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	G	NM_020693	-		117392047	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	SNP	0.954	A	A	117392047	G	A	117392047	2	1	102	1	0	0	0	0	0	0	0	1	4771	1219	43	2		2	DSCAML1	11	117392047	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4108526	117392047	17614469	438	6348											
PHLDB1	23187	genome.wustl.edu	37	chr11	118520812	118520812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccgctacctgccaatcCggaaggaggactttgacctg	11	13	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:118520812C>T	ENST00000361417.2	+	20	4096	c.3685C>T	c.(3685-3687)Cgg>Tgg	p.R1229W	PHLDB1_ENST00000524713.1_Missense_Mutation_p.R372W|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.R280W|PHLDB1_ENST00000356063.5_Missense_Mutation_p.R1182W	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1229										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGCCAATCCGGAAGGAGGA	0.582																																																	0								ENSG00000019144						107	95	99					11																	118520812		2200	4295	6495	PHLDB1	SO:0001583	missense	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3685C>T	11.37:g.118520812C>T	ENSP00000354498:p.Arg1229Trp	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP							pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1229W	ENST00000361417.2	37	c.3685	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692569	0.88735	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.982;0.996;0.996;0.991	D	0.89501	0.3764	10	0.72032	D	0.01	-26.6859	18.331	0.90268	0.0:1.0:0.0:0.0	.	593;988;1182;1229	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	W	1229;1003;593;1182;280;372	ENSP00000354498:R1229W;ENSP00000348359:R1182W;ENSP00000435388:R280W;ENSP00000434905:R372W	ENSP00000348359:R1182W	R	+	1	2	PHLDB1	118026022	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	2.197000	0.42696	2.328000	0.79073	0.655000	0.94253	CGG	-	NULL		0.582	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	C	NM_015157	-		118520812	1	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118520812	C	T	118520812	3	4	102	1	0	0	0	0	1	0	0	0	11853	643	23	1	3755	1	PHLDB1	11	118520812	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1128765	118520812	16485704	439	6349											
HINFP	25988	genome.wustl.edu	37	chr11	119002250	119002250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccctggcacagaattcCttcgacaatcctgagtggtt	9	12	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:119002250C>T	ENST00000350777.2	+	4	480	c.417C>T	c.(415-417)tcC>tcT	p.S139S	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.S139S	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	139					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACAGAATTCCTTCGACAATC	0.537																																																	0								ENSG00000172273						133	110	118					11																	119002250		2200	4295	6495	HINFP	SO:0001819	synonymous_variant	0			-	HGNC	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.417C>T	11.37:g.119002250C>T		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S139	ENST00000350777.2	37	c.417	CCDS8414.1	11																																																																																			-	smart_Znf_C2H2-like		0.537	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	protein_coding	OTTHUMT00000388201.2	C	NM_015517	-		119002250	1	no_errors	ENST00000350777	ensembl	human	known	74_37	silent	SNP	0.982	T	T	119002250	C	T	119002250	2	4	102	1	0	0	0	0	0	0	0	1	7112	668	24	2		2	HINFP	11	119002250	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	481438	119002250	16004266	440	6350											
NLRX1	79671	genome.wustl.edu	37	chr11	119043612	119043612	+	Missense_Mutation	SNP	C	C	T													ccctctccttgttcccagggCctttatacgccaccacggaa							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:119043612C>T	ENST00000409109.1	+	4	730	c.143C>T	c.(142-144)gCc>gTc	p.A48V	NLRX1_ENST00000409991.1_Missense_Mutation_p.A48V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A48V|NLRX1_ENST00000409265.4_Missense_Mutation_p.A48V|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.A48V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	48					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		GTTCCCAGGGCCTTTATACGC	0.597																																																	0								ENSG00000160703						73	68	70					11																	119043612		2200	4295	6495	NLRX1	SO:0001583	missense	0			-	HGNC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.143C>T	11.37:g.119043612C>T	ENSP00000387334:p.Ala48Val	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A48V	ENST00000409109.1	37	c.143	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643552	0.67244	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.73681	1.1;1.1;1.12;-0.65;-0.65;-0.77;-0.65;-0.77	5.4	4.49	0.54785	.	0.000000	0.49305	D	0.000147	T	0.75361	0.3839	L	0.27053	0.805	0.34165	D	0.669161	D;D	0.69078	0.997;0.991	D;P	0.66196	0.942;0.734	T	0.82242	-0.0554	10	0.66056	D	0.02	.	10.3762	0.44083	0.0:0.9089:0.0:0.0911	.	48;48	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	48	ENSP00000400268:A48V;ENSP00000402801:A48V;ENSP00000402381:A48V;ENSP00000386851:A48V;ENSP00000292199:A48V;ENSP00000386858:A48V;ENSP00000387334:A48V;ENSP00000433442:A48V	ENSP00000292199:A48V	A	+	2	0	NLRX1	118548822	0.941000	0.31946	0.998000	0.56505	0.171000	0.22731	1.020000	0.30027	1.419000	0.47118	-0.229000	0.12294	GCC	-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	protein_coding	OTTHUMT00000335403.1	C	NM_170722	-		119043612	1	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	SNP	0.996	T	T	119043612	C	T	119043612	3	4	102	1	0	0	0	0	1	0	0	0	10487	739	26	2	153	2	NLRX1	11	119043612	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	41362	119043612	15962904	441	6351	85	2									
NLRX1	79671	genome.wustl.edu	37	chr11	119043613	119043613	+	Silent	SNP	C	C	T													cctctccttgttcccagggcCtttatacgccaccacggaag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:119043613C>T	ENST00000409109.1	+	4	731	c.144C>T	c.(142-144)gcC>gcT	p.A48A	NLRX1_ENST00000409991.1_Silent_p.A48A|NLRX1_ENST00000292199.2_Silent_p.A48A|NLRX1_ENST00000409265.4_Silent_p.A48A|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Silent_p.A48A	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	48					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		TTCCCAGGGCCTTTATACGCC	0.597																																																	0								ENSG00000160703						74	69	70					11																	119043613		2200	4295	6495	NLRX1	SO:0001819	synonymous_variant	0			-	HGNC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.144C>T	11.37:g.119043613C>T		Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A48	ENST00000409109.1	37	c.144	CCDS8416.1	11																																																																																			-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	protein_coding	OTTHUMT00000335403.1	C	NM_170722	-		119043613	1	no_errors	ENST00000292199	ensembl	human	known	74_37	silent	SNP	0.937	T	T	119043613	C	T	119043613	2	4	102	1	0	0	0	0	0	0	0	1	10487	668	24	2		2	NLRX1	11	119043613	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	119043613	15962903	442	6352	85	2									
TECTA	7007	genome.wustl.edu	37	chr11	120983818	120983818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcctagtgtccgatggctCctatacattcaccctcttca	6	15	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:120983818C>T	ENST00000392793.1	+	5	795	c.524C>T	c.(523-525)tCc>tTc	p.S175F	TECTA_ENST00000264037.2_Missense_Mutation_p.S175F			O75443	TECTA_HUMAN	tectorin alpha	175	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCGATGGCTCCTATACATTC	0.577											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000109927						102	85	91					11																	120983818		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.524C>T	11.37:g.120983818C>T	ENSP00000376543:p.Ser175Phe	Somatic	0	50	0	1508	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81		Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.S175F	ENST00000392793.1	37	c.524	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084128	0.20309	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.74526	-0.85;-0.85	5.26	5.26	0.73747	Nidogen, extracellular domain (3);	0.396961	0.25948	N	0.027273	T	0.72598	0.3480	M	0.64997	1.995	0.27872	N	0.939983	B	0.22746	0.074	B	0.32677	0.15	T	0.61978	-0.6951	10	0.24483	T	0.36	.	12.8034	0.57598	0.0:0.9158:0.0:0.0842	.	175	O75443	TECTA_HUMAN	F	175	ENSP00000376543:S175F;ENSP00000264037:S175F	ENSP00000264037:S175F	S	+	2	0	TECTA	120489028	0.010000	0.17322	1.000000	0.80357	0.935000	0.57460	0.893000	0.28336	2.731000	0.93534	0.650000	0.86243	TCC	-	pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422	-		120983818	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	0.976	T	T	120983818	C	T	120983818	3	4	102	1	0	0	0	0	1	0	0	0	15754	855	30	2	538	2	TECTA	11	120983818	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1940205	120983818	14022698	443	6353											
ERC1	23085	genome.wustl.edu	37	chr12	1192706	1192706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcatcacctagaaagccTtttggagcagaaggaaaaag	10	8	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:1192706T>C	ENST00000397203.2	+	3	1452	c.1046T>C	c.(1045-1047)cTt>cCt	p.L349P	ERC1_ENST00000546231.2_Missense_Mutation_p.L349P|ERC1_ENST00000360905.4_Missense_Mutation_p.L349P|ERC1_ENST00000543086.3_Missense_Mutation_p.L349P|ERC1_ENST00000355446.5_Missense_Mutation_p.L349P|ERC1_ENST00000589028.1_Missense_Mutation_p.L349P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	349					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTAGAAAGCCTTTTGGAGCAG	0.408																																																	0								ENSG00000082805						100	95	96					12																	1192706		2203	4300	6503	ERC1	SO:0001583	missense	0			-	HGNC	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1046T>C	12.37:g.1192706T>C	ENSP00000380386:p.Leu349Pro	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP							pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.L349P	ENST00000397203.2	37	c.1046	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293774	0.80914	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67163	0.2864	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.91635	0.956;0.999;0.999;0.995	T	0.65038	-0.6265	10	0.30854	T	0.27	-4.0731	15.9948	0.80232	0.0:0.0:0.0:1.0	.	125;349;349;349	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	P	349;349;349;349;349;349;349;349;349;349;125	ENSP00000340054:L349P;ENSP00000380386:L349P;ENSP00000438546:L349P;ENSP00000445336:L349P;ENSP00000442739:L349P;ENSP00000347621:L349P;ENSP00000354158:L349P;ENSP00000410064:L349P	ENSP00000340054:L349P	L	+	2	0	ERC1	1062967	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.994000	0.88315	2.234000	0.73211	0.533000	0.62120	CTT	-	pfam_CAZ_cplx_RIM-bd_prot		0.408	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	protein_coding	OTTHUMT00000398380.2	T	NM_015064	-		1192706	1	no_errors	ENST00000360905	ensembl	human	known	74_37	missense	SNP	1.000	C	C	1192706	T	C	1192706	3	2	102	1	0	0	0	0	1	0	0	0	5212	1609	56	5	1052	5	ERC1	12	1192706	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09		1192706	132659189	444	6354											
C12orf4	57102	genome.wustl.edu	37	chr12	4609389	4609389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctttgagtatatttcggagtCccataatggcaggatcacga	10	8	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:4609389C>A	ENST00000261250.3	-	11	1442	c.1355G>T	c.(1354-1356)gGa>gTa	p.G452V	C12orf4_ENST00000545746.1_Missense_Mutation_p.G452V|C12orf4_ENST00000509318.2_5'Flank	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	452										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTTCGGAGTCCCATAATGGC	0.428																																																	0								ENSG00000047621						141	127	132					12																	4609389		2203	4300	6503	C12orf4	SO:0001583	missense	0			-	HGNC	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1355G>T	12.37:g.4609389C>A	ENSP00000261250:p.Gly452Val	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	D3DUQ8|Q6MZH5	Missense_Mutation	SNP							pfam_DUF2362	p.G452V	ENST00000261250.3	37	c.1355	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504844	0.85176	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.46	4.57	0.56435	.	0.108387	0.64402	D	0.000006	T	0.75932	0.3917	M	0.85462	2.755	0.80722	D	1	P	0.49447	0.924	P	0.52627	0.704	T	0.81293	-0.0998	9	0.87932	D	0	.	15.6221	0.76813	0.1387:0.8613:0.0:0.0	.	452	Q9NQ89	CL004_HUMAN	V	452	.	ENSP00000261250:G452V	G	-	2	0	C12orf4	4479650	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.742000	0.68646	1.280000	0.44463	0.591000	0.81541	GGA	-	pfam_DUF2362		0.428	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	protein_coding	OTTHUMT00000398992.1	C	NM_020374	-		4609389	-1	no_errors	ENST00000261250	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4609389	C	A	4609389	3	1	102	1	0	0	0	0	1	0	0	0	1687	855	30	3	319	3	C12orf4	12	4609389	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3416683	4609389	129242506	445	6355											
VWF	7450	genome.wustl.edu	37	chr12	6078495	6078495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtataaagacctcctcCttcactcggacacactcatt	5	13	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:6078495C>T	ENST00000261405.5	-	45	7865	c.7611G>A	c.(7609-7611)aaG>aaA	p.K2537K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2537					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGACCTCCTCCTTCACTCGGA	0.602																																																	0								ENSG00000110799						59	59	59					12																	6078495		2203	4300	6503	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7611G>A	12.37:g.6078495C>T		Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	Q8TCE8|Q99806	Silent	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.K2537	ENST00000261405.5	37	c.7611	CCDS8539.1	12																																																																																			-	pirsf_VWF		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	C	NM_000552	-		6078495	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	1.000	T	T	6078495	C	T	6078495	2	4	102	1	0	0	0	0	0	0	0	1	17253	680	24	2		2	VWF	12	6078495	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1469106	6078495	127773400	446	6356											
TNFRSF1A	7132	genome.wustl.edu	37	chr12	6438569	6438569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagcaggtccatgtcgCggagcacgcgtcccagcagc	13	16	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:6438569C>T	ENST00000162749.2	-	10	1576	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R383H|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	426	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GTCCATGTCGCGGAGCACGCG	0.741																																																	0								ENSG00000067182						6	8	7					12																	6438569		2091	4057	6148	TNFRSF1A	SO:0001583	missense	0			-	HGNC	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1277G>A	12.37:g.6438569C>T	ENSP00000162749:p.Arg426His	Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP							pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.R426H	ENST00000162749.2	37	c.1277	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579920	0.65992	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.86627	-2.15;-2.15	4.88	1.95	0.26073	Death (3);DEATH-like (2);	1.779650	0.02249	N	0.066459	D	0.88062	0.6336	L	0.33189	0.99	0.09310	N	0.999994	D;P	0.76494	0.999;0.9	P;P	0.58660	0.843;0.497	T	0.74535	-0.3633	10	0.37606	T	0.19	-5.9352	7.3915	0.26913	0.0:0.6867:0.1427:0.1707	.	383;426	F5H061;P19438	.;TNR1A_HUMAN	H	426;383	ENSP00000162749:R426H;ENSP00000438343:R383H	ENSP00000162749:R426H	R	-	2	0	TNFRSF1A	6308830	0.007000	0.16637	0.269000	0.24586	0.941000	0.58515	1.156000	0.31712	0.551000	0.29008	0.561000	0.74099	CGC	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain		0.741	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	protein_coding	OTTHUMT00000399038.1	C	NM_001065	-		6438569	-1	no_errors	ENST00000162749	ensembl	human	known	74_37	missense	SNP	0.020	T	T	6438569	C	T	6438569	3	4	102	1	0	0	0	0	1	0	0	0	16300	768	27	1	94	1	TNFRSF1A	12	6438569	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	360074	6438569	127413326	447	6357											
PHC1	1911	genome.wustl.edu	37	chr12	9072388	9072388	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcggcagcccaatgcagctCagtatttccaccagttcatg	9	13	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:9072388C>T	ENST00000543824.1	+	4	483	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	PHC1_ENST00000544916.1_Nonsense_Mutation_p.Q51*|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Intron			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	51					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAATGCAGCTCAGTATTTCCA	0.532																																																	0								ENSG00000111752						52	50	51					12																	9072388		2203	4299	6502	PHC1	SO:0001587	stop_gained	0			-	HGNC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.151C>T	12.37:g.9072388C>T	ENSP00000440674:p.Gln51*	Somatic	0	24	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	D3DUV4|Q8WVM3|Q9BU63	Nonsense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.Q51*	ENST00000543824.1	37	c.151	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.351622	0.95830	.	.	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000544916;ENST00000544539;ENST00000539063;ENST00000541181	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.4622	19.3996	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000251757:Q51X	Q	+	1	0	PHC1	8963655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.676000	0.91093	0.655000	0.94253	CAG	-	NULL		0.532	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	protein_coding	OTTHUMT00000399115.1	C	NM_004426	-		9072388	1	no_errors	ENST00000543824	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	9072388	C	T	9072388	4	4	102	1	0	0	0	0	0	1	0	0	11818	827	29	2	157	2	PHC1	12	9072388	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2633819	9072388	124779507	448	6358											
CLEC2D	29121	genome.wustl.edu	37	chr12	9840655	9840655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcacaagatgctgatctTgctcaggttgaaagcttcca	9	10	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:9840655T>C	ENST00000290855.6	+	3	352	c.330T>C	c.(328-330)ctT>ctC	p.L110L	CLEC2D_ENST00000261339.6_Silent_p.L73L|CLEC2D_ENST00000545918.1_Silent_p.L73L|CLEC2D_ENST00000261340.7_Silent_p.L110L|CLEC2D_ENST00000543300.1_Silent_p.L110L	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						ATGCTGATCTTGCTCAGGTTG	0.388																																																	0								ENSG00000069493						61	60	61					12																	9840655		2203	4300	6503	CLEC2D	SO:0001819	synonymous_variant	0			-	HGNC	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"C-type lectin domain containing"	14351	protein-coding gene	gene with protein product	"C-type lectin related f", "lectin-like transcript 1"	605659	"C-type lectin superfamily 2, member D"				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.330T>C	12.37:g.9840655T>C		Somatic	0	104	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	49	25.76	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Silent	SNP							pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L110	ENST00000290855.6	37	c.330	CCDS8602.1	12																																																																																			-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.388	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC2D	protein_coding	OTTHUMT00000335424.2	T	NM_013269	-		9840655	1	no_errors	ENST00000261340	ensembl	human	known	74_37	silent	SNP	0.004	C	C	9840655	T	C	9840655	2	2	102	1	0	0	0	0	0	0	0	1	3510	1799	63	5		5	CLEC2D	12	9840655	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	768267	9840655	124011240	449	6359											
TAS2R31	259290	genome.wustl.edu	37	chr12	11183124	11183124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggtggattgaaggatAgctgaatctaatagctttgc	13	4	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:11183124A>G	ENST00000390675.2	-	1	882	c.811T>C	c.(811-813)Tat>Cat	p.Y271H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	271					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)			kidney(1)|lung(6)	7						ATTGAAGGATAGCTGAATCTA	0.413																																																	0								ENSG00000256436						195	199	198					12																	11183124		2052	4229	6281	TAS2R31	SO:0001583	missense	0			-	HGNC	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.811T>C	12.37:g.11183124A>G	ENSP00000375093:p.Tyr271His	Somatic	0	205	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	95	18.80	P59547|Q17R84|Q645X5	Missense_Mutation	SNP							pfam_TAS2_rcpt	p.Y271H	ENST00000390675.2	37	c.811	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	.	9.417	1.082047	0.20309	.	.	ENSG00000256436	ENST00000390675	T	0.01159	5.25	2.62	1.43	0.22495	.	.	.	.	.	T	0.04861	0.0131	H	0.96142	3.775	0.09310	N	1	B	0.32604	0.377	B	0.41202	0.35	T	0.11966	-1.0566	9	0.87932	D	0	.	4.5219	0.11962	0.8317:0.0:0.1683:0.0	.	271	P59538	T2R31_HUMAN	H	271	ENSP00000375093:Y271H	ENSP00000375093:Y271H	Y	-	1	0	TAS2R31	11074391	0.074000	0.21230	0.030000	0.17652	0.052000	0.14988	1.029000	0.30140	0.261000	0.21753	0.163000	0.16589	TAT	-	pfam_TAS2_rcpt		0.413	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	protein_coding	OTTHUMT00000400233.1	A	NM_176885	-		11183124	-1	no_errors	ENST00000390675	ensembl	human	known	74_37	missense	SNP	0.182	G	G	11183124	A	G	11183124	3	3	102	1	0	0	0	0	1	0	0	0	15581	420	15	5	122	5	TAS2R31	12	11183124	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	1342469	11183124	122668771	450	6360											
GUCY2C	2984	genome.wustl.edu	37	chr12	14792796	14792796	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgggaagatatactcacTtctagctctttttcctctgc	6	11	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:14792796T>C	ENST00000261170.3	-	19	2293	c.2157A>G	c.(2155-2157)gaA>gaG	p.E719E		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	719	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)	ATATACTCACTTCTAGCTCTT	0.368																																																	0								ENSG00000070019						118	120	119					12																	14792796		2203	4300	6503	GUCY2C	SO:0001630	splice_region_variant	0			-	HGNC		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.2157+1A>G	12.37:g.14792796T>C		Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	B2RMY6	Silent	SNP							pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.E719	ENST00000261170.3	37	c.2157	CCDS8664.1	12																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	protein_coding	OTTHUMT00000400835.1	T		-	Silent	14792796	-1	no_errors	ENST00000261170	ensembl	human	known	74_37	silent	SNP	1.000	C	C	14792796	T	C	14792796	5	2	102	1	0	0	0	0	0	0	1	0	6898	1623	56	5	1100	5	GUCY2C	12	14792796	Splice_Site	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	3609672	14792796	119059099	451	6361											
RERGL	79785	genome.wustl.edu	37	chr12	18234192	18234192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgatttagatccactgGgacgtctcttttctttgagt	8	9	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:18234192G>A	ENST00000229002.2	-	6	757	c.551C>T	c.(550-552)cCc>cTc	p.P184L	RERGL_ENST00000541632.1_5'Flank|RERGL_ENST00000538724.1_Missense_Mutation_p.P183L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	184	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.P184L(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AGATCCACTGGGACGTCTCTT	0.383																																																	2	Substitution - Missense(2)	prostate(2)						ENSG00000111404						123	117	119					12																	18234192		2203	4300	6503	RERGL	SO:0001583	missense	0			-	HGNC	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.551C>T	12.37:g.18234192G>A	ENSP00000229002:p.Pro184Leu	Somatic	0	99	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62		Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.P184L	ENST00000229002.2	37	c.551	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	G	7.671	0.687045	0.14973	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.78481	-1.18;-1.18	4.58	3.68	0.42216	.	0.605186	0.16892	N	0.195265	T	0.59293	0.2183	N	0.08118	0	0.80722	D	1	B;B	0.28713	0.0;0.22	B;B	0.28139	0.002;0.086	T	0.55166	-0.8183	10	0.29301	T	0.29	.	13.0344	0.58862	0.0:0.0:0.8381:0.1619	.	183;184	F5H686;Q9H628	.;RERGL_HUMAN	L	184;183	ENSP00000229002:P184L;ENSP00000437814:P183L	ENSP00000229002:P184L	P	-	2	0	RERGL	18125459	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	3.484000	0.53201	1.203000	0.43233	0.563000	0.77884	CCC	-	superfamily_P-loop_NTPase		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	protein_coding	OTTHUMT00000401198.1	G	NM_024730	-		18234192	-1	no_errors	ENST00000229002	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18234192	G	A	18234192	3	1	102	1	0	0	0	0	1	0	0	0	13241	1232	43	2	70	2	RERGL	12	18234192	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3441396	18234192	115617703	452	6362											
PLEKHA5	54477	genome.wustl.edu	37	chr12	19511189	19511189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaagtgcagtggaacagCtctgtttggctgaaagtact	12	7	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:19511189C>T	ENST00000299275.6	+	21	2674	c.2668C>T	c.(2668-2670)Ctc>Ttc	p.L890F	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.L879F|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.L834F|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.L948F|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.L953F|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.L948F|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.L648F|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.L1056F|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.L872F	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	890					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGTGGAACAGCTCTGTTTGGC	0.373																																					Pancreas(196;329 2193 11246 14234 19524)												0								ENSG00000052126						91	78	83					12																	19511189		2203	4300	6503	PLEKHA5	SO:0001583	missense	0			-	HGNC	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2668C>T	12.37:g.19511189C>T	ENSP00000299275:p.Leu890Phe	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP							pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.L953F	ENST00000299275.6	37	c.2857	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926572	0.73327	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.30714	2.84;2.84;1.52;2.84;2.84;2.84;2.84;2.84;2.84;2.84;1.52	5.36	5.36	0.76844	.	0.422545	0.23340	N	0.049257	T	0.53302	0.1788	M	0.76574	2.34	0.36344	D	0.859638	D;D;P;D;D;D;D;D	0.89917	0.999;0.998;0.666;0.999;1.0;0.999;0.996;0.998	D;D;B;D;D;D;P;D	0.91635	0.994;0.95;0.18;0.995;0.999;0.996;0.893;0.933	T	0.58020	-0.7710	10	0.37606	T	0.19	-12.5498	12.2015	0.54328	0.0:0.8801:0.0:0.1199	.	953;872;879;1051;834;1056;890;948	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	F	953;948;834;1052;1056;890;648;948;879;872;845;171	ENSP00000325155:L953F;ENSP00000347560:L948F;ENSP00000352104:L834F;ENSP00000404296:L1056F;ENSP00000299275:L890F;ENSP00000440611:L648F;ENSP00000439673:L948F;ENSP00000400411:L879F;ENSP00000439837:L872F;ENSP00000440371:L845F;ENSP00000443553:L171F	ENSP00000299275:L890F	L	+	1	0	PLEKHA5	19402456	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.702000	0.47102	2.805000	0.96524	0.551000	0.68910	CTC	-	NULL		0.373	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	protein_coding	OTTHUMT00000397013.1	C	NM_019012	-		19511189	1	no_errors	ENST00000317589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19511189	C	T	19511189	3	4	102	1	0	0	0	0	1	0	0	0	12061	797	28	2	3068	2	PLEKHA5	12	19511189	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1276997	19511189	114340706	453	6363											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20858969	20858969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagggtgtgtaatcatgGgagttggaacactgctcatt	14	6	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:20858969G>A	ENST00000266509.2	+	4	726	c.358G>A	c.(358-360)Gga>Aga	p.G120R	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G120R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G2R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G120R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G120R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	120					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)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGTAATCATGGGAGTTGGAAC	0.408																																																	0								ENSG00000139155						210	208	209					12																	20858969		2203	4300	6503	SLCO1C1	SO:0001583	missense	0			-	HGNC	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.358G>A	12.37:g.20858969G>A	ENSP00000266509:p.Gly120Arg	Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G120R	ENST00000266509.2	37	c.358	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945339	0.73672	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.01	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.199500	0.44285	N	0.000463	T	0.60919	0.2306	M	0.81942	2.565	0.40591	D	0.981489	D;D;D;D	0.71674	0.991;0.991;0.998;0.998	P;D;D;D	0.74348	0.876;0.983;0.983;0.983	T	0.64884	-0.6302	10	0.87932	D	0	.	6.829	0.23898	0.0872:0.0:0.6241:0.2886	.	2;120;120;120	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	R	120;120;120;120;2	ENSP00000444149:G120R;ENSP00000438665:G120R;ENSP00000266509:G120R;ENSP00000370964:G120R;ENSP00000444527:G2R	ENSP00000266509:G120R	G	+	1	0	SLCO1C1	20750236	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.482000	0.73613	1.333000	0.45449	0.655000	0.94253	GGA	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	protein_coding	OTTHUMT00000401765.1	G	NM_017435	-		20858969	1	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20858969	G	A	20858969	3	1	102	1	0	0	0	0	1	0	0	0	14733	1233	43	2	368	2	SLCO1C1	12	20858969	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1347780	20858969	112992926	454	6364											
LST-3TM12	338821	genome.wustl.edu	37	chr12	21242954	21242954	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggataccaaagtattaGaaaatgaaagacaagtaatg	9	3	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21242954G>A	ENST00000421593.2	+	13	1837	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E660K|LST3_ENST00000540229.1_Missense_Mutation_p.E721K|LST3_ENST00000381541.3_Missense_Mutation_p.E660K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E721K|RP11-125O5.2_ENST00000590779.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	613						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAAAGTATTAGAAAATGAAAG	0.328																																																	0								ENSG00000111700						48	51	50					12																	21242954		2044	4232	6276	SLCO1B3	SO:0001583	missense	0			-	HGNC	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1837G>A	12.37:g.21242954G>A	ENSP00000394168:p.Glu613Lys	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q71QF0	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E721K	ENST00000421593.2	37	c.2161	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	8.572	0.880260	0.17467	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.38401	1.14;1.25;1.14;1.25;1.21	2.57	2.57	0.30868	.	1.690730	0.02884	N	0.133260	T	0.23133	0.0559	N	0.08118	0	0.18873	N	0.999982	B;B;B	0.23249	0.082;0.046;0.059	B;B;B	0.28139	0.086;0.06;0.034	T	0.18493	-1.0335	10	0.20519	T	0.43	.	8.7682	0.34715	0.0:0.0:1.0:0.0	.	613;660;721	G3V0H7;F5H094;Q5JAR4	.;.;.	K	721;660;721;660;613	ENSP00000451758:E721K;ENSP00000370952:E660K;ENSP00000441269:E721K;ENSP00000452013:E660K;ENSP00000394168:E613K	ENSP00000370952:E660K	E	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134221	0.183000	0.23186	0.185000	0.23176	0.072000	0.16883	1.406000	0.34646	1.726000	0.51525	0.505000	0.49811	GAA	-	superfamily_MFS_dom_general_subst_transpt		0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	protein_coding	OTTHUMT00000402066.1	G	NM_001009562	-		21242954	1	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	SNP	0.269	A	A	21242954	G	A	21242954	3	1	102	1	0	0	0	0	1	0	0	0	9068	943	33	2	1887	2	LST-3TM12	12	21242954	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	383985	21242954	112608941	455	6365											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21370151	21370151	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagatgatgcttgtacaagGaaattttacttttttgttgc	9	4	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21370151G>A	ENST00000256958.2	+	12	1692	c.1596G>A	c.(1594-1596)agG>agA	p.R532R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTTGTACAAGGAAATTTTACT	0.378																																																	0								ENSG00000134538						142	144	144					12																	21370151		2203	4300	6503	SLCO1B1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1596G>A	12.37:g.21370151G>A		Somatic	0	95	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R532	ENST00000256958.2	37	c.1596	CCDS8685.1	12																																																																																			-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.378	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	G	NM_006446	-		21370151	1	no_errors	ENST00000256958	ensembl	human	known	74_37	silent	SNP	0.076	A	A	21370151	G	A	21370151	2	1	102	1	0	0	0	0	0	0	0	1	14731	1165	41	2		2	SLCO1B1	12	21370151	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	127197	21370151	112481744	456	6366											
SLCO1A2	6579	genome.wustl.edu	37	chr12	21428334	21428334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtaatcccacaccaagGgacttctcttcagatttcat	6	11	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21428334G>A	ENST00000307378.6	-	14	2355	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	SLCO1A2_ENST00000537524.1_Silent_p.S413S|SLCO1A2_ENST00000458504.1_Silent_p.S413S|SLCO1A2_ENST00000390670.3_Silent_p.S543S|SLCO1A2_ENST00000452078.1_Silent_p.S545S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	545					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S545>?(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CCACACCAAGGGACTTCTCTT	0.264																																																	1	Complex(1)	skin(1)						ENSG00000084453						25	23	24					12																	21428334		2200	4288	6488	SLCO1A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1635C>T	12.37:g.21428334G>A		Somatic	0	128	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	Q9UGP7|Q9UL38	Silent	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S545	ENST00000307378.6	37	c.1635	CCDS8686.1	12																																																																																			-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.264	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	G	NM_021094	-		21428334	-1	no_errors	ENST00000307378	ensembl	human	known	74_37	silent	SNP	0.937	A	A	21428334	G	A	21428334	2	1	102	1	0	0	0	0	0	0	0	1	14730	1219	43	2		2	SLCO1A2	12	21428334	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	58183	21428334	112423561	457	6367											
SLCO1A2	6579	genome.wustl.edu	37	chr12	21450399	21450399	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttctaggtatttaggcatGaaggagatcatgttaacgaa	11	4	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21450399G>A	ENST00000307378.6	-	10	1734	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	SLCO1A2_ENST00000537524.1_Silent_p.F206F|SLCO1A2_ENST00000458504.1_Silent_p.F206F|SLCO1A2_ENST00000390670.3_Silent_p.F336F|SLCO1A2_ENST00000452078.1_Silent_p.F338F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	338					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATTTAGGCATGAAGGAGATCA	0.353																																																	0								ENSG00000084453						143	133	136					12																	21450399		2203	4300	6503	SLCO1A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1014C>T	12.37:g.21450399G>A		Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	37.50	Q9UGP7|Q9UL38	Silent	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F338	ENST00000307378.6	37	c.1014	CCDS8686.1	12																																																																																			-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.353	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	G	NM_021094	-		21450399	-1	no_errors	ENST00000307378	ensembl	human	known	74_37	silent	SNP	1.000	A	A	21450399	G	A	21450399	2	1	102	1	0	0	0	0	0	0	0	1	14730	1281	45	2		2	SLCO1A2	12	21450399	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	22065	21450399	112401496	458	6368											
ITPR2	3709	genome.wustl.edu	37	chr12	26634139	26634139	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaaagcaatgatgatAtcaatcccattagactcatg	6	8	3	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:26634139A>T	ENST00000381340.3	-	43	6464	c.6048T>A	c.(6046-6048)gaT>gaA	p.D2016E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2016					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAATGATGATATCAATCCCAT	0.383																																																	0								ENSG00000123104						133	120	124					12																	26634139		1867	4106	5973	ITPR2	SO:0001583	missense	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6048T>A	12.37:g.26634139A>T	ENSP00000370744:p.Asp2016Glu	Somatic	0	73	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	O94773	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.D2016E	ENST00000381340.3	37	c.6048	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365484	0.82463	.	.	ENSG00000123104	ENST00000381340	D	0.95001	-3.58	5.31	-6.13	0.02118	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.60067	1.865	0.80722	D	1	D	0.65815	0.995	D	0.72338	0.977	D	0.93164	0.6560	10	0.56958	D	0.05	.	18.2021	0.89842	0.3652:0.0:0.6348:0.0	.	2016	Q14571	ITPR2_HUMAN	E	2016	ENSP00000370744:D2016E	ENSP00000370744:D2016E	D	-	3	2	ITPR2	26525406	0.892000	0.30473	0.910000	0.35882	0.980000	0.70556	0.022000	0.13511	-1.091000	0.03065	-0.250000	0.11733	GAT	-	pfam_RIH_assoc-dom		0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	A	NM_002223	-		26634139	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	SNP	0.882	T	T	26634139	A	T	26634139	3	4	102	1	0	0	0	0	1	0	0	0	7923	446	16	5	2117	5	ITPR2	12	26634139	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	5183740	26634139	107217756	459	6369											
YARS2	51067	genome.wustl.edu	37	chr12	32908628	32908628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtcgaagagctctgggaGctctattttcgtccccgtct	11	12	3	1	rs555093151		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:32908628G>A	ENST00000324868.8	-	1	208	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	61					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AGCTCTGGGAGCTCTATTTTC	0.592											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139131						114	123	120					12																	32908628		2203	4300	6503	YARS2	SO:0001583	missense	0			-	HGNC	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.181C>T	12.37:g.32908628G>A	ENSP00000320658:p.Leu61Phe	Somatic	0	79	0	836	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	D3DUW8|Q9H817	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.L61F	ENST00000324868.8	37	c.181	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670207	0.88348	.	.	ENSG00000139131	ENST00000324868	T	0.73681	-0.77	5.1	5.1	0.69264	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.124247	0.56097	D	0.000031	T	0.79667	0.4485	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.62885	0.908	T	0.81897	-0.0722	10	0.87932	D	0	-11.7606	18.3808	0.90451	0.0:0.0:1.0:0.0	.	61	Q9Y2Z4	SYYM_HUMAN	F	61	ENSP00000320658:L61F	ENSP00000320658:L61F	L	-	1	0	YARS2	32799895	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.667000	0.68067	2.673000	0.90976	0.650000	0.86243	CTC	-	NULL		0.592	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	protein_coding	OTTHUMT00000404153.1	G	NM_015936	-		32908628	-1	no_errors	ENST00000324868	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32908628	G	A	32908628	3	1	102	1	0	0	0	0	1	0	0	0	17475	971	34	2	1272	2	YARS2	12	32908628	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6274489	32908628	100943267	460	6370											
PKP2	5318	genome.wustl.edu	37	chr12	32974432	32974432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcccttggggttgctcTtttcctccggcatcggcacg	11	16	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:32974432T>C	ENST00000070846.6	-	10	2027	c.2003A>G	c.(2002-2004)aAg>aGg	p.K668R	PKP2_ENST00000340811.4_Missense_Mutation_p.K624R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	668					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGGGTTGCTCTTTTCCTCCGG	0.478																																																	0								ENSG00000057294						86	74	78					12																	32974432		2203	4300	6503	PKP2	SO:0001583	missense	0			-	HGNC	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2003A>G	12.37:g.32974432T>C	ENSP00000070846:p.Lys668Arg	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	26.47	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K668R	ENST00000070846.6	37	c.2003	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	T	14.40	2.522719	0.44866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.75154	-0.91;-0.91	4.99	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.106321	0.64402	N	0.000005	T	0.60064	0.2240	L	0.28115	0.83	0.36967	D	0.893636	B;B;B	0.25390	0.102;0.061;0.125	B;B;B	0.28139	0.086;0.039;0.055	T	0.57717	-0.7763	10	0.33940	T	0.23	-4.6989	8.5577	0.33492	0.0:0.0897:0.0:0.9103	.	624;624;668	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	R	624;668;668	ENSP00000342800:K624R;ENSP00000070846:K668R	ENSP00000070846:K668R	K	-	2	0	PKP2	32865699	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	4.028000	0.57246	0.762000	0.33152	0.460000	0.39030	AAG	-	superfamily_ARM-type_fold		0.478	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	protein_coding	OTTHUMT00000404449.1	T	NM_004572	-		32974432	-1	no_errors	ENST00000070846	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32974432	T	C	32974432	3	2	102	1	0	0	0	0	1	0	0	0	11987	1609	56	5	662	5	PKP2	12	32974432	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	65804	32974432	100877463	461	6371											
YAF2	10138	genome.wustl.edu	37	chr12	42554627	42554627	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacatttttcaatcttgGcctaaacataaaaaaatgaa	3	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:42554627G>A	ENST00000534854.2	-	4	374	c.307C>T	c.(307-309)Cca>Tca	p.P103S	YAF2_ENST00000380788.3_Splice_Site_p.P94S|YAF2_ENST00000380790.4_Splice_Site_p.P61S|YAF2_ENST00000442791.3_Splice_Site_p.P127S|YAF2_ENST00000327791.4_Splice_Site_p.P79S	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	103					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TTCAATCTTGGCCTAAACATA	0.308																																																	0								ENSG00000015153						37	37	37					12																	42554627		2202	4299	6501	YAF2	SO:0001630	splice_region_variant	0			-	HGNC	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.306-1C>T	12.37:g.42554627G>A		Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP							pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P127S	ENST00000534854.2	37	c.379	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670569	0.67814	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.994	T	0.77667	-0.2502	9	0.40728	T	0.16	.	19.2823	0.94057	0.0:0.0:1.0:0.0	.	61;94;79;103	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	S	79;127;103;61;94	.	ENSP00000328004:P79S	P	-	1	0	YAF2	40840894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.414000	0.97362	2.550000	0.86006	0.655000	0.94253	CCA	-	NULL		0.308	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	protein_coding	OTTHUMT00000403781.1	G		-	Missense_Mutation	42554627	-1	no_errors	ENST00000442791	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42554627	G	A	42554627	5	1	102	1	0	0	0	0	0	0	1	0	17472	1217	42	2	239	2	YAF2	12	42554627	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9580195	42554627	91297268	462	6372											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43771331	43771331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggtgcaatatgtaatcCtttgtctgtaactaaatcca	6	9	2	0	rs561936298		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:43771331C>T	ENST00000389420.3	-	32	4831	c.4832G>A	c.(4831-4833)aGg>aAg	p.R1611K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1611	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATGTAATCCTTTGTCTGTA	0.388													C|||	1	0.000199681	0	0	5008	,	,		19186	0		0	False		,,,				2504	0.001																0								ENSG00000173157						104	100	102					12																	43771331		2203	4300	6503	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4832G>A	12.37:g.43771331C>T	ENSP00000374071:p.Arg1611Lys	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A6NNC9|J3QT00	Missense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1611K	ENST00000389420.3	37	c.4832	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696520	0.48202	.	.	ENSG00000173157	ENST00000389420	T	0.61158	0.13	5.08	3.21	0.36854	.	0.105342	0.41001	N	0.000965	T	0.47600	0.1454	L	0.40543	1.245	0.80722	D	1	B	0.27679	0.185	B	0.33454	0.164	T	0.37103	-0.9720	10	0.36615	T	0.2	.	8.8957	0.35463	0.0:0.703:0.0:0.2969	.	1611	P59510	ATS20_HUMAN	K	1611	ENSP00000374071:R1611K	ENSP00000374071:R1611K	R	-	2	0	ADAMTS20	42057598	1.000000	0.71417	0.988000	0.46212	0.816000	0.46133	0.819000	0.27308	0.778000	0.33520	0.655000	0.94253	AGG	-	superfamily_Thrombospondin_1_rpt		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43771331	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	0.998	T	T	43771331	C	T	43771331	3	4	102	1	0	0	0	0	1	0	0	0	266	681	24	2	931	2	ADAMTS20	12	43771331	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1216704	43771331	90080564	463	6373											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43819462	43819462	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgacatattacaagtcttGattttattcctcctccacat	3	10	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:43819462G>T	ENST00000389420.3	-	28	4138	c.4139C>A	c.(4138-4140)tCa>tAa	p.S1380*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S498*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1380*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1380	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACAAGTCTTGATTTTATTCC	0.323																																																	0								ENSG00000173157						133	116	122					12																	43819462		2203	4300	6503	ADAMTS20	SO:0001587	stop_gained	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4139C>A	12.37:g.43819462G>T	ENSP00000374071:p.Ser1380*	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6NNC9|J3QT00	Nonsense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1380*	ENST00000389420.3	37	c.4139	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	41	8.924943	0.99004	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.71	3.82	0.43975	.	0.162281	0.27319	N	0.019910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.8272	0.63357	0.0752:0.0:0.9248:0.0	.	.	.	.	X	1380;510;498;1380;1380	.	ENSP00000374068:S1380X	S	-	2	0	ADAMTS20	42105729	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.129000	0.71657	1.298000	0.44778	-0.143000	0.13931	TCA	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.323	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	G	NM_025003	-		43819462	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	43819462	G	T	43819462	4	4	102	1	0	0	0	0	0	1	0	0	266	1294	45	3	1640	3	ADAMTS20	12	43819462	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	48131	43819462	90032433	464	6374											
MCRS1	10445	genome.wustl.edu	37	chr12	49959887	49959887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctccgtttagggatgGtgcccaaggcctgggaggag	16	9	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:49959887G>A	ENST00000550165.1	-	4	388	c.122C>T	c.(121-123)aCc>aTc	p.T41I	MCRS1_ENST00000343810.4_Missense_Mutation_p.T41I|MCRS1_ENST00000546244.1_Intron|MCRS1_ENST00000357123.4_Missense_Mutation_p.T54I			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	41	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTTAGGGATGGTGCCCAAGGC	0.597																																																	0								ENSG00000187778						99	92	94					12																	49959887		2203	4300	6503	MCRS1	SO:0001583	missense	0			-	HGNC	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"INO80 complex subunits"	6960	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.122C>T	12.37:g.49959887G>A	ENSP00000448056:p.Thr41Ile	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP							pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T54I	ENST00000550165.1	37	c.161	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869421	0.32977	.	.	ENSG00000187778	ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334;ENST00000548596;ENST00000549528	.	.	.	5.32	5.32	0.75619	.	0.399009	0.31082	N	0.008300	T	0.30854	0.0778	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.12243	-1.0555	9	0.35671	T	0.21	-26.1398	10.0049	0.41951	0.092:0.0:0.908:0.0	.	28;41;54	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	I	41;41;54;28;41;41;41	.	ENSP00000345358:T41I	T	-	2	0	MCRS1	48246154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.284000	0.51708	2.474000	0.83562	0.563000	0.77884	ACC	-	NULL		0.597	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	protein_coding	OTTHUMT00000405102.1	G	NM_006337	-		49959887	-1	no_errors	ENST00000357123	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49959887	G	A	49959887	3	1	102	1	0	0	0	0	1	0	0	0	9401	1261	44	2	1318	2	MCRS1	12	49959887	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6140425	49959887	83892008	465	6375											
SCN8A	6334	genome.wustl.edu	37	chr12	52078031	52078031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgtacattttaagtcCttttaacctgataagaagaa	6	7	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:52078031C>T	ENST00000354534.6	+	3	528	c.350C>T	c.(349-351)cCt>cTt	p.P117L	SCN8A_ENST00000545061.1_Missense_Mutation_p.P117L|SCN8A_ENST00000550891.1_Missense_Mutation_p.P117L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	117					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTTTAAGTCCTTTTAACCTG	0.368																																																	0								ENSG00000196876						85	86	86					12																	52078031		1852	4093	5945	SCN8A	SO:0001583	missense	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.350C>T	12.37:g.52078031C>T	ENSP00000346534:p.Pro117Leu	Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.P117L	ENST00000354534.6	37	c.350	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803580	0.70682	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.96685	-4.08;-4.05;-4.09;-3.95	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	M	0.93550	3.43	0.80722	D	1	D	0.60575	0.988	P	0.53313	0.723	D	0.99278	1.0895	10	0.87932	D	0	.	18.5569	0.91088	0.0:1.0:0.0:0.0	.	117	Q9UQD0	SCN8A_HUMAN	L	117;117;117;117;30	ENSP00000448415:P117L;ENSP00000346534:P117L;ENSP00000440360:P117L;ENSP00000347255:P117L	ENSP00000346534:P117L	P	+	2	0	SCN8A	50364298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.696000	0.92011	0.655000	0.94253	CCT	-	NULL		0.368	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	C	NM_014191	-		52078031	1	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52078031	C	T	52078031	3	4	102	1	0	0	0	0	1	0	0	0	13932	681	24	2	356	2	SCN8A	12	52078031	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2118144	52078031	81773864	466	6376											
KRT76	51350	genome.wustl.edu	37	chr12	53169174	53169174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaggaggagccctcacttCtttttgaagtcttccaccag	8	14	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:53169174C>T	ENST00000332411.2	-	2	866	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	271	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCTCACTTCTTTTTGAAGT	0.517																																																	0								ENSG00000185069						99	103	102					12																	53169174		2203	4300	6503	KRT76	SO:0001819	synonymous_variant	0			-	HGNC	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.813G>A	12.37:g.53169174C>T		Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B4DRR3|Q7Z795	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.K271	ENST00000332411.2	37	c.813	CCDS8838.1	12																																																																																			-	pfam_IF,prints_Keratin_II,prints_Keratin_I		0.517	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	protein_coding	OTTHUMT00000405928.1	C	NM_015848	-		53169174	-1	no_errors	ENST00000332411	ensembl	human	known	74_37	silent	SNP	0.480	T	T	53169174	C	T	53169174	2	4	102	1	0	0	0	0	0	0	0	1	8491	912	32	2		2	KRT76	12	53169174	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1091143	53169174	80682721	467	6377											
OR10A7	121364	genome.wustl.edu	37	chr12	55615216	55615216	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccattattcagtcataatGaacaggtccctatgcttgtg	7	10	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:55615216G>A	ENST00000326258.1	+	1	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAGTCATAATGAACAGGTCCC	0.468																																																	0								ENSG00000179919						139	122	128					12																	55615216		2203	4300	6503	OR10A7	SO:0001583	missense	0			-	HGNC	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.408G>A	12.37:g.55615216G>A	ENSP00000326718:p.Met136Ile	Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	Q6IFD5|Q96R19	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136I	ENST00000326258.1	37	c.408	CCDS31815.1	12	.	.	.	.	.	.	.	.	.	.	g	17.56	3.421080	0.62622	.	.	ENSG00000179919	ENST00000326258	T	0.01185	5.21	3.05	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000231	T	0.04907	0.0132	M	0.85373	2.75	0.35485	D	0.79849	D	0.56968	0.978	P	0.53146	0.719	T	0.35847	-0.9772	10	0.62326	D	0.03	.	14.2018	0.65710	0.0:0.0:1.0:0.0	.	136	Q8NGE5	O10A7_HUMAN	I	136	ENSP00000326718:M136I	ENSP00000326718:M136I	M	+	3	0	OR10A7	53901483	1.000000	0.71417	0.994000	0.49952	0.808000	0.45660	5.577000	0.67444	1.729000	0.51567	0.637000	0.83480	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	protein_coding	OTTHUMT00000406308.1	G		-		55615216	1	no_errors	ENST00000326258	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55615216	G	A	55615216	3	1	102	1	0	0	0	0	1	0	0	0	10897	1290	45	2	410	2	OR10A7	12	55615216	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2446042	55615216	78236679	468	6378											
GLI1	2735	genome.wustl.edu	37	chr12	57859404	57859404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagctgaagtctgagctGgacatgctggttggcaagtg	17	6	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:57859404G>A	ENST00000228682.2	+	6	640	c.549G>A	c.(547-549)ctG>ctA	p.L183L	GLI1_ENST00000546141.1_Silent_p.L142L|GLI1_ENST00000543426.1_Silent_p.L55L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	183					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTGAGCTGGACATGCTGG	0.562																																					Pancreas(157;841 1936 10503 41495 50368)												0								ENSG00000111087						67	55	59					12																	57859404		2203	4300	6503	GLI1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.549G>A	12.37:g.57859404G>A		Somatic	0	33	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L183	ENST00000228682.2	37	c.549	CCDS8940.1	12																																																																																			-	NULL		0.562	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	protein_coding	OTTHUMT00000394197.1	G	NM_005269	-		57859404	1	no_errors	ENST00000228682	ensembl	human	known	74_37	silent	SNP	1.000	A	A	57859404	G	A	57859404	2	1	102	1	0	0	0	0	0	0	0	1	6439	1335	47	2		2	GLI1	12	57859404	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2244188	57859404	75992491	469	6379											
SLC26A10	65012	genome.wustl.edu	37	chr12	58015566	58015566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgctcgtgccggtcaagGaattgaacgtgagattccga	13	10	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:58015566G>A	ENST00000320442.4	+	4	960	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	SLC26A10_ENST00000379218.2_Missense_Mutation_p.E217K|AC025165.8_ENST00000593846.1_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	217						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GCCGGTCAAGGAATTGAACGT	0.687											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000135502						19	21	20					12																	58015566		2202	4296	6498	SLC26A10	SO:0001583	missense	0			-	HGNC		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.649G>A	12.37:g.58015566G>A	ENSP00000320217:p.Glu217Lys	Somatic	0	17	0	1027	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.E217K	ENST00000320442.4	37	c.649	CCDS8949.2	12	.	.	.	.	.	.	.	.	.	.	.	36	5.778747	0.96929	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.92752	-3.1;-3.1	3.79	3.79	0.43588	Sulphate transporter (1);	.	.	.	.	D	0.92570	0.7640	L	0.31526	0.94	0.47778	D	0.999515	D	0.76494	0.999	D	0.85130	0.997	D	0.91947	0.5568	9	0.41790	T	0.15	.	13.5555	0.61757	0.0:0.0:1.0:0.0	.	217	Q8NG04	S2610_HUMAN	K	217	ENSP00000320217:E217K;ENSP00000368520:E217K	ENSP00000320217:E217K	E	+	1	0	SLC26A10	56301833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.459000	0.73513	2.140000	0.66376	0.555000	0.69702	GAA	-	pfam_Sulph_transpt		0.687	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	protein_coding	OTTHUMT00000250311.2	G		-		58015566	1	no_errors	ENST00000320442	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58015566	G	A	58015566	3	1	102	1	0	0	0	0	1	0	0	0	14523	1175	41	2	663	2	SLC26A10	12	58015566	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	156162	58015566	75836329	470	6380											
ACACB	32	genome.wustl.edu	37	chr12	109634872	109634872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggctgccacatcgagatTgatgcccaccggctgaatga	11	11	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:109634872T>C	ENST00000338432.7	+	17	2660	c.2541T>C	c.(2539-2541)atT>atC	p.I847I	ACACB_ENST00000377848.3_Silent_p.I847I|ACACB_ENST00000377854.5_Silent_p.I847I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	847					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACATCGAGATTGATGCCCACC	0.582																																																	0								ENSG00000076555						71	60	64					12																	109634872		2203	4300	6503	ACACB	SO:0001819	synonymous_variant	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2541T>C	12.37:g.109634872T>C		Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP							pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I847	ENST00000338432.7	37	c.2541	CCDS31898.1	12																																																																																			-	NULL		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	T	NM_001093	-		109634872	1	no_errors	ENST00000338432	ensembl	human	known	74_37	silent	SNP	0.941	C	C	109634872	T	C	109634872	2	2	102	1	0	0	0	0	0	0	0	1	107	1800	63	5		5	ACACB	12	109634872	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	51619306	109634872	24217023	471	6381											
KSR2	283455	genome.wustl.edu	37	chr12	117977684	117977684	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggctggtaagggacaggGatgtggtcctgcagagagaa	17	6	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:117977684G>A	ENST00000339824.5	-	10	2254	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	KSR2_ENST00000425217.1_Silent_p.I480I|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.I206I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	509					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)			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)					AAGGGACAGGGATGTGGTCCT	0.647																																																	0								ENSG00000171435						88	107	101					12																	117977684		2161	4265	6426	KSR2	SO:0001819	synonymous_variant	0			-	HGNC	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.1527C>T	12.37:g.117977684G>A		Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	A0PJT2|Q3B828|Q8N775	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.I509	ENST00000339824.5	37	c.1527		12																																																																																			-	NULL		0.647	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	G	NM_173598	-		117977684	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	SNP	1.000	A	A	117977684	G	A	117977684	2	1	102	1	0	0	0	0	0	0	0	1	8584	1164	41	2		2	KSR2	12	117977684	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8342812	117977684	15874211	472	6382											
CIT	11113	genome.wustl.edu	37	chr12	120148136	120148136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgggacatgggttaggGagtttttcaagacattcagg	13	6	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:120148136G>A	ENST00000261833.7	-	38	4917	c.4865C>T	c.(4864-4866)tCc>tTc	p.S1622F	CIT_ENST00000392521.2_Missense_Mutation_p.S1664F|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1622	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATGGGTTAGGGAGTTTTTCAA	0.512																																																	0								ENSG00000122966						102	100	100					12																	120148136		2203	4300	6503	CIT	SO:0001583	missense	0			-	HGNC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4865C>T	12.37:g.120148136G>A	ENSP00000261833:p.Ser1622Phe	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S1622F	ENST00000261833.7	37	c.4865	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.291384|5.291384	0.95546|0.95546	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05081	.|3.5;3.5	5.86|5.86	5.86|5.86	0.93980|0.93980	.|Citron-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24353|0.24353	0.0590|0.0590	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.994	.|D;D;P	.|0.72338	.|0.977;0.958;0.846	T|T	0.00025|0.00025	-1.2318|-1.2318	5|10	.|0.72032	.|D	.|0.01	.|.	20.1865|20.1865	0.98220|0.98220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1664;1622;1140	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|F	1235|1664;1622	.|ENSP00000376306:S1664F;ENSP00000261833:S1622F	.|ENSP00000261833:S1622F	P|S	-|-	1|2	0|0	CIT|CIT	118632519|118632519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.471000|9.471000	0.97696|0.97696	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CCC|TCC	-	pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	protein_coding	OTTHUMT00000259410.4	G	NM_007174	-		120148136	-1	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120148136	G	A	120148136	3	1	102	1	0	0	0	0	1	0	0	0	3440	1174	41	2	1258	2	CIT	12	120148136	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2170452	120148136	13703759	473	6383											
GCN1L1	10985	genome.wustl.edu	37	chr12	120580481	120580481	+	Missense_Mutation	SNP	C	C	T													gcggcccatgtacagccctgCcaacacccggttccgccgct							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:120580481C>T	ENST00000300648.6	-	44	5671	c.5659G>A	c.(5659-5661)Gca>Aca	p.A1887T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1887					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)					TACAGCCCTGCCAACACCCGG	0.617																																																	0								ENSG00000089154						39	47	44					12																	120580481		1976	4143	6119	GCN1L1	SO:0001583	missense	0			-	HGNC	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.5659G>A	12.37:g.120580481C>T	ENSP00000300648:p.Ala1887Thr	Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP							pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A1887T	ENST00000300648.6	37	c.5659	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.163831	0.94727	.	.	ENSG00000089154	ENST00000300648	T	0.59772	0.24	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.051982	0.85682	D	0.000000	T	0.78824	0.4344	M	0.87682	2.9	0.58432	D	0.999999	D	0.67145	0.996	P	0.60236	0.871	T	0.81217	-0.1033	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	1887	Q92616	GCN1L_HUMAN	T	1887	ENSP00000300648:A1887T	ENSP00000300648:A1887T	A	-	1	0	GCN1L1	119064864	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.748000	0.68697	2.828000	0.97474	0.655000	0.94253	GCA	-	superfamily_ARM-type_fold		0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	C		-		120580481	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120580481	C	T	120580481	3	4	102	1	0	0	0	0	1	0	0	0	6301	739	26	2	2416	2	GCN1L1	12	120580481	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	432345	120580481	13271414	474	6384	86	2									
GCN1L1	10985	genome.wustl.edu	37	chr12	120580482	120580482	+	Silent	SNP	C	C	T													cggcccatgtacagccctgcCaacacccggttccgccgctc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:120580482C>T	ENST00000300648.6	-	44	5670	c.5658G>A	c.(5656-5658)ttG>ttA	p.L1886L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1886					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)					ACAGCCCTGCCAACACCCGGT	0.617																																																	0								ENSG00000089154						39	46	44					12																	120580482		1979	4143	6122	GCN1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.5658G>A	12.37:g.120580482C>T		Somatic	0	98	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP							pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L1886	ENST00000300648.6	37	c.5658	CCDS41847.1	12																																																																																			-	superfamily_ARM-type_fold		0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	C		-		120580482	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	silent	SNP	1.000	T	T	120580482	C	T	120580482	2	4	102	1	0	0	0	0	0	0	0	1	6301	593	21	2		2	GCN1L1	12	120580482	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	120580482	13271413	475	6385	86	2									
GTF2H3	2967	genome.wustl.edu	37	chr12	124130028	124130028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatccaaatgcatagatgcCgtgatggtgctgggaaattc	11	7	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:124130028C>T	ENST00000543341.2	+	3	151	c.120C>T	c.(118-120)gcC>gcT	p.A40A	GTF2H3_ENST00000228955.7_5'UTR	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	40					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GCATAGATGCCGTGATGGTGC	0.353								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0								ENSG00000111358						146	125	132					12																	124130028		2203	4300	6503	GTF2H3	SO:0001819	synonymous_variant	0			-	HGNC	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.120C>T	12.37:g.124130028C>T		Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP							pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34	p.A40	ENST00000543341.2	37	c.120	CCDS9252.1	12																																																																																			-	pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34		0.353	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	protein_coding	OTTHUMT00000400641.2	C	NM_001516	-		124130028	1	no_errors	ENST00000543341	ensembl	human	known	74_37	silent	SNP	0.007	T	T	124130028	C	T	124130028	2	4	102	1	0	0	0	0	0	0	0	1	6866	639	23	1		1	GTF2H3	12	124130028	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3549546	124130028	9721867	476	6386											
TCTN2	79867	genome.wustl.edu	37	chr12	124163786	124163786	+	Missense_Mutation	SNP	C	C	T													atcagccccttggcccttgtCcttgtaatttaacagctgga							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:124163786C>T	ENST00000303372.5	+	5	642	c.514C>T	c.(514-516)Cct>Tct	p.P172S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P171S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGCCCTTGTCCTTGTAATTT	0.443																																																	0								ENSG00000168778						243	213	224					12																	124163786		2203	4300	6503	TCTN2	SO:0001583	missense	0			-	HGNC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.514C>T	12.37:g.124163786C>T	ENSP00000304941:p.Pro172Ser	Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP							pfam_DUF1619	p.P172S	ENST00000303372.5	37	c.514	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432003	0.62844	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81908	-1.55;-1.55	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.000000	0.64402	D	0.000001	D	0.84079	0.5393	M	0.78916	2.43	0.54753	D	0.999986	P;P	0.35192	0.489;0.489	B;B	0.38428	0.273;0.273	T	0.81920	-0.0712	10	0.15499	T	0.54	-6.0009	18.4634	0.90747	0.0:1.0:0.0:0.0	.	171;172	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	171;172	ENSP00000395171:P171S;ENSP00000304941:P172S	ENSP00000304941:P172S	P	+	1	0	TCTN2	122729739	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.664000	0.74437	2.343000	0.79666	0.416000	0.27883	CCT	-	pfam_DUF1619		0.443	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	protein_coding	OTTHUMT00000400652.1	C	NM_024809	-		124163786	1	no_errors	ENST00000303372	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124163786	C	T	124163786	3	4	102	1	0	0	0	0	1	0	0	0	15730	855	30	2	532	2	TCTN2	12	124163786	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	33758	124163786	9688109	477	6387	87	2									
TCTN2	79867	genome.wustl.edu	37	chr12	124163787	124163787	+	Missense_Mutation	SNP	C	C	T													tcagccccttggcccttgtcCttgtaatttaacagctggag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:124163787C>T	ENST00000303372.5	+	5	643	c.515C>T	c.(514-516)cCt>cTt	p.P172L	TCTN2_ENST00000426174.2_Missense_Mutation_p.P171L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GGCCCTTGTCCTTGTAATTTA	0.448																																																	0								ENSG00000168778						243	213	223					12																	124163787		2203	4300	6503	TCTN2	SO:0001583	missense	0			-	HGNC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.515C>T	12.37:g.124163787C>T	ENSP00000304941:p.Pro172Leu	Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP							pfam_DUF1619	p.P172L	ENST00000303372.5	37	c.515	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567727	0.65651	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82711	-1.64;-1.64	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.000000	0.64402	D	0.000001	D	0.85089	0.5617	M	0.78916	2.43	0.80722	D	1	B;B	0.22541	0.071;0.071	B;B	0.29663	0.105;0.105	T	0.82959	-0.0198	10	0.44086	T	0.13	-6.0009	18.4634	0.90747	0.0:1.0:0.0:0.0	.	171;172	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	171;172	ENSP00000395171:P171L;ENSP00000304941:P172L	ENSP00000304941:P172L	P	+	2	0	TCTN2	122729740	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.664000	0.74437	2.343000	0.79666	0.416000	0.27883	CCT	-	pfam_DUF1619		0.448	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	protein_coding	OTTHUMT00000400652.1	C	NM_024809	-		124163787	1	no_errors	ENST00000303372	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124163787	C	T	124163787	3	4	102	1	0	0	0	0	1	0	0	0	15730	681	24	2	533	2	TCTN2	12	124163787	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	124163787	9688108	478	6388	87	2									
TMEM132B	114795	genome.wustl.edu	37	chr12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatgtcaaggtcaaattcGaaccaagtagtgatgagcac	10	7	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral component of membrane (GO:0016021)		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423																																																	1	Substitution - Missense(1)	NS(1)						ENSG00000139364						88	87	87					12																	126138387		2059	4205	6264	TMEM132B	SO:0001583	missense	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2368G>A	12.37:g.126138387G>A	ENSP00000299308:p.Glu790Lys	Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP							NULL	p.E790K	ENST00000299308.3	37	c.2368	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678338	0.47886	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	.	0.479442	0.20533	N	0.090474	T	0.11580	0.0282	L	0.34521	1.04	0.40552	D	0.981121	P	0.47106	0.89	B	0.33295	0.161	T	0.10660	-1.0620	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	790	Q14DG7	T132B_HUMAN	K	790;302	ENSP00000299308:E790K;ENSP00000440436:E302K	ENSP00000299308:E790K	E	+	1	0	TMEM132B	124704340	1.000000	0.71417	0.343000	0.25615	0.598000	0.36846	6.179000	0.71974	2.596000	0.87737	0.650000	0.86243	GAA	-	NULL		0.423	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	G	NM_052907	-		126138387	1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126138387	G	A	126138387	3	1	102	1	0	0	0	0	1	0	0	0	16053	1059	37	1	2402	1	TMEM132B	12	126138387	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1974600	126138387	7713508	479	6389											
EP400	57634	genome.wustl.edu	37	chr12	132445290	132445290	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtcccccgcagctcccttCgctccctcagcaagcccgtc	7	23	1	0	rs139666996		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:132445290C>T	ENST00000333577.4	+	2	235	c.126C>T	c.(124-126)ttC>ttT	p.F42F	EP400_ENST00000332482.4_Silent_p.F42F|EP400_ENST00000389561.2_Silent_p.F42F|EP400_ENST00000389562.2_Silent_p.F42F|EP400_ENST00000330386.6_Silent_p.F42F			Q96L91	EP400_HUMAN	E1A binding protein p400	42					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)	p.F42F(1)		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)		CAGCTCCCTTCGCTCCCTCAG	0.652																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000183495						24	27	26					12																	132445290		2196	4273	6469	EP400	SO:0001819	synonymous_variant	0			-	HGNC	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.126C>T	12.37:g.132445290C>T		Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F42	ENST00000333577.4	37	c.126		12																																																																																			-	NULL		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		C	NM_015409	rs139666996		132445290	1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	SNP	0.968	T	T	132445290	C	T	132445290	2	4	102	1	0	0	0	0	0	0	0	1	5151	883	31	1		1	EP400	12	132445290	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6306903	132445290	1406605	480	6390											
EP400	57634	genome.wustl.edu	37	chr12	132466722	132466722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccctccacggggcctcCcgtgcagaacgctgccagct	11	18	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:132466722C>T	ENST00000333577.4	+	6	1845	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	EP400_ENST00000332482.4_Missense_Mutation_p.P506L|EP400_ENST00000389561.2_Missense_Mutation_p.P543L|EP400_ENST00000389562.2_Missense_Mutation_p.P542L|EP400_ENST00000330386.6_Missense_Mutation_p.P543L			Q96L91	EP400_HUMAN	E1A binding protein p400	579					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)		ACGGGGCCTCCCGTGCAGAAC	0.672																																																	0								ENSG00000183495						53	63	60					12																	132466722		2203	4299	6502	EP400	SO:0001583	missense	0			-	HGNC	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.1736C>T	12.37:g.132466722C>T	ENSP00000333602:p.Pro579Leu	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P579L	ENST00000333577.4	37	c.1736		12	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749027	0.49257	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90069	-2.58;-2.6;-2.59;-2.61;-2.57	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	M	0.65975	2.015	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	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.91581	0.5279	10	0.27785	T	0.31	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	543;543;542;579;506	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	L	506;579;543;542;506;543;579;543;543	ENSP00000333602:P579L;ENSP00000374212:P543L;ENSP00000374213:P542L;ENSP00000331737:P506L;ENSP00000330620:P543L	ENSP00000330620:P543L	P	+	2	0	EP400	131032675	1.000000	0.71417	0.960000	0.40013	0.442000	0.32017	5.749000	0.68704	2.642000	0.89623	0.655000	0.94253	CCC	-	NULL		0.672	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		C	NM_015409	-		132466722	1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132466722	C	T	132466722	3	4	102	1	0	0	0	0	1	0	0	0	5151	623	22	2	1639	2	EP400	12	132466722	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	21432	132466722	1385173	481	6391											
P2RX2	22953	genome.wustl.edu	37	chr12	133196052	133196052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgtgcagaaaagctaCcaggagagcgagacgggccc	13	11	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:133196052C>T	ENST00000389110.3	+	2	238	c.201C>T	c.(199-201)taC>taT	p.Y67Y	P2RX2_ENST00000343948.4_Silent_p.Y67Y|P2RX2_ENST00000348800.5_Silent_p.Y67Y|P2RX2_ENST00000352418.4_Missense_Mutation_p.P45S|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Silent_p.Y67Y|P2RX2_ENST00000449132.2_Silent_p.Y67Y	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	67					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGAAAAGCTACCAGGAGAGCG	0.657																																																	0								ENSG00000187848						84	82	83					12																	133196052		2203	4300	6503	P2RX2	SO:0001819	synonymous_variant	0			-	HGNC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.201C>T	12.37:g.133196052C>T		Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP							pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.P45S	ENST00000389110.3	37	c.133	CCDS31931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.113710|2.113710	0.37339|0.37339	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000352418|ENST00000542301;ENST00000536121;ENST00000535910	T|.	0.05996|.	3.36|.	4.44|4.44	2.15|2.15	0.27550|0.27550	.|.	.|.	.|.	.|.	.|.	T|T	0.58148|0.58148	0.2102|0.2102	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.26483|.	0.15|.	B|.	0.23150|.	0.044|.	T|T	0.53718|0.53718	-0.8399|-0.8399	8|4	0.33940|.	T|.	0.23|.	-26.3386|-26.3386	9.2294|9.2294	0.37428|0.37428	0.0:0.7157:0.0:0.2843|0.0:0.7157:0.0:0.2843	.|.	45|.	Q9UBL9-6|.	.|.	S|I	45|78;53;23	ENSP00000341419:P45S|.	ENSP00000341419:P45S|.	P|T	+|+	1|2	0|0	P2RX2|P2RX2	131706125|131706125	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	0.642000|0.642000	0.24735|0.24735	0.838000|0.838000	0.34948|0.34948	0.505000|0.505000	0.49811|0.49811	CCA|ACC	-	NULL		0.657	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	protein_coding	OTTHUMT00000397542.1	C		-		133196052	1	no_errors	ENST00000352418	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133196052	C	T	133196052	2	4	102	1	0	0	0	0	0	0	0	1	11342	519	18	2		2	P2RX2	12	133196052	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	729330	133196052	655843	482	6392											
POLE	5426	genome.wustl.edu	37	chr12	133237724	133237724	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcccttgagctcagccagaGaaccgtcttcattgaacaca	8	13	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:133237724G>A	ENST00000320574.5	-	25	2934	c.2891C>T	c.(2890-2892)tCt>tTt	p.S964F	POLE_ENST00000535270.1_Missense_Mutation_p.S937F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	964					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCCAGAGAACCGTCTTC	0.532								DNA polymerases (catalytic subunits)																																									0								ENSG00000177084						128	138	134					12																	133237724		2203	4300	6503	POLE	SO:0001583	missense	0			-	HGNC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2891C>T	12.37:g.133237724G>A	ENSP00000322570:p.Ser964Phe	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	Q13533|Q86VH9	Missense_Mutation	SNP							pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.S964F	ENST00000320574.5	37	c.2891	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973280	0.74246	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.34	4.43	0.53597	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.93062	3.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.978;0.987	T	0.66011	-0.6029	10	0.87932	D	0	.	15.3756	0.74602	0.0:0.0:0.8596:0.1404	.	937;964	F5H1D6;Q07864	.;DPOE1_HUMAN	F	964;975;937;744;899	ENSP00000322570:S964F;ENSP00000406383:S975F;ENSP00000445753:S937F;ENSP00000442519:S744F	ENSP00000322570:S964F	S	-	2	0	POLE	131747797	1.000000	0.71417	0.665000	0.29768	0.736000	0.42039	9.806000	0.99153	1.243000	0.43853	0.638000	0.83543	TCT	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	protein_coding	OTTHUMT00000397689.2	G	NM_006231	-		133237724	-1	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133237724	G	A	133237724	3	1	102	1	0	0	0	0	1	0	0	0	12198	942	33	2	4069	2	POLE	12	133237724	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	41672	133237724	614171	483	6393											
CHFR	55743	genome.wustl.edu	37	chr12	133446393	133446393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgaggtatctttggtcCcatggaacacattttccttg	8	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:133446393C>T	ENST00000432561.2	-	6	504	c.431G>A	c.(430-432)gGg>gAg	p.G144E	CHFR_ENST00000266880.7_Missense_Mutation_p.G144E|CHFR_ENST00000315585.7_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000541837.2_Intron|CHFR_ENST00000450056.2_Intron			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	144					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ATCTTTGGTCCCATGGAACAC	0.562																																																	0								ENSG00000072609						24	33	30					12																	133446393		692	1591	2283	CHFR	SO:0001583	missense	0			-	HGNC	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.431G>A	12.37:g.133446393C>T	ENSP00000392395:p.Gly144Glu	Somatic	0	33	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP							pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.G144E	ENST00000432561.2	37	c.431	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	C	1.027	-0.683040	0.03353	.	.	ENSG00000072609	ENST00000266880;ENST00000432561;ENST00000542714	T;T	0.16324	2.35;2.61	5.67	-2.32	0.06745	Forkhead-associated (FHA) domain (1);	0.989962	0.08245	N	0.975520	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.15870	0.014;0.006	T	0.39820	-0.9595	10	0.02654	T	1	-16.4465	5.5105	0.16878	0.4638:0.2515:0.2847:0.0	.	144;144	Q96EP1-4;Q96EP1	.;CHFR_HUMAN	E	144;144;16	ENSP00000266880:G144E;ENSP00000392395:G144E	ENSP00000266880:G144E	G	-	2	0	CHFR	131956466	0.139000	0.22563	0.026000	0.17262	0.369000	0.29798	0.508000	0.22692	-0.409000	0.07553	-0.694000	0.03704	GGG	-	NULL		0.562	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	protein_coding	OTTHUMT00000397130.2	C		-		133446393	-1	no_errors	ENST00000266880	ensembl	human	known	74_37	missense	SNP	0.035	T	T	133446393	C	T	133446393	3	4	102	1	0	0	0	0	1	0	0	0	3339	623	22	2	1712	2	CHFR	12	133446393	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	208669	133446393	405502	484	6394											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751361	19751361	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcactaggttggtctggaaTtccgtcaagtccacattcag	11	10	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:19751361T>A	ENST00000400113.3	-	4	866	c.762A>T	c.(760-762)gaA>gaT	p.E254D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	254					'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)		TGGTCTGGAATTCCGTCAAGT	0.617																																																	0								ENSG00000198033						147	131	136					13																	19751361		2203	4300	6503	TUBA3C	SO:0001583	missense	0			-	HGNC	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.762A>T	13.37:g.19751361T>A	ENSP00000382982:p.Glu254Asp	Somatic	0	128	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E254D	ENST00000400113.3	37	c.762	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	3.462	-0.109716	0.06924	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.85411	-1.98	1.19	-2.38	0.06622	.	0.000000	0.47852	U	0.000220	T	0.80319	0.4601	.	.	.	0.31205	N	0.699261	.	.	.	.	.	.	T	0.74509	-0.3642	7	0.87932	D	0	.	3.1556	0.06503	0.0:0.3014:0.2226:0.4759	.	.	.	.	D	254	ENSP00000382982:E254D	ENSP00000354037:E254D	E	-	3	2	TUBA3C	18649361	0.144000	0.22641	0.936000	0.37596	0.267000	0.26476	-0.689000	0.05144	-1.099000	0.03034	0.147000	0.16070	GAA	-	superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.617	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	T	NM_006001	-		19751361	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19751361	T	A	19751361	3	1	102	1	0	0	0	0	1	0	0	0	16753	1490	52	5	598	5	TUBA3C	13	19751361	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09		19751361	95418517	485	6395											
SACS	26278	genome.wustl.edu	37	chr13	23912516	23912516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttccactctcactcagGgaaaacttcagagcctctcc	5	16	5	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:23912516G>A	ENST00000382292.3	-	9	5772	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S	SACS_ENST00000382298.3_Silent_p.S1833S|SACS_ENST00000402364.1_Silent_p.S1083S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1833					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)	p.S1686S(1)|p.S1833S(1)		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)		TCTCACTCAGGGAAAACTTCA	0.478																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000151835						133	131	131					13																	23912516		2203	4299	6502	SACS	SO:0001819	synonymous_variant	0			-	HGNC	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.5499C>T	13.37:g.23912516G>A		Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.S1833	ENST00000382292.3	37	c.5499	CCDS9300.2	13																																																																																			-	NULL		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	G	NM_014363	-		23912516	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	silent	SNP	0.943	A	A	23912516	G	A	23912516	2	1	102	1	0	0	0	0	0	0	0	1	13812	1219	43	2		2	SACS	13	23912516	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4161155	23912516	91257362	486	6396											
WASF3	10810	genome.wustl.edu	37	chr13	27246073	27246073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttctttgacctctggaaaGaaaaaatgctacaggacaca	7	8	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:27246073G>A	ENST00000335327.5	+	6	665	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	WASF3_ENST00000361042.4_Missense_Mutation_p.E163K|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	163					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTCTGGAAAGAAAAAATGCT	0.373																																																	0								ENSG00000132970						79	77	78					13																	27246073		2203	4299	6502	WASF3	SO:0001583	missense	0			-	HGNC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.487G>A	13.37:g.27246073G>A	ENSP00000335055:p.Glu163Lys	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	10	56.52	O94974|Q86VQ2	Missense_Mutation	SNP							pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E163K	ENST00000335327.5	37	c.487	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.270600	0.95429	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.43294	1.11;0.95	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.65975	2.015	0.80722	D	1	P;B	0.44816	0.844;0.235	P;B	0.49683	0.619;0.199	T	0.56245	-0.8011	10	0.46703	T	0.11	-29.8277	18.6083	0.91275	0.0:0.0:1.0:0.0	.	163;163	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	K	163	ENSP00000354325:E163K;ENSP00000335055:E163K	ENSP00000335055:E163K	E	+	1	0	WASF3	26144073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.236000	0.95360	2.403000	0.81681	0.650000	0.86243	GAA	-	NULL		0.373	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	protein_coding	OTTHUMT00000044258.1	G		-		27246073	1	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27246073	G	A	27246073	3	1	102	1	0	0	0	0	1	0	0	0	17261	943	33	2	501	2	WASF3	13	27246073	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3333557	27246073	87923805	487	6397											
RXFP2	122042	genome.wustl.edu	37	chr13	32332451	32332451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgccaaaaaggatattttCcctgtgggaatcttaccaag	8	9	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:32332451C>T	ENST00000298386.2	+	2	222	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	RXFP2_ENST00000380314.1_Missense_Mutation_p.P51S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	51	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGGATATTTTCCCTGTGGGAA	0.478																																																	0								ENSG00000133105						178	166	170					13																	32332451		2203	4300	6503	RXFP2	SO:0001583	missense	0			-	HGNC	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.151C>T	13.37:g.32332451C>T	ENSP00000298386:p.Pro51Ser	Somatic	0	82	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	B1ALE9|Q3KU23	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.P51S	ENST00000298386.2	37	c.151	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579404	0.86645	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	D;D	0.95069	-3.6;-3.6	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	N	0.25286	0.73	0.58432	D	0.999995	P;D	0.54601	0.927;0.967	P;P	0.58391	0.759;0.838	D	0.94650	0.7838	10	0.59425	D	0.04	.	17.131	0.86726	0.0:1.0:0.0:0.0	.	51;51	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	S	51	ENSP00000369670:P51S;ENSP00000298386:P51S	ENSP00000298386:P51S	P	+	1	0	RXFP2	31230451	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.512000	0.73737	2.651000	0.90000	0.644000	0.83932	CCC	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt		0.478	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	protein_coding	OTTHUMT00000044399.1	C	NM_130806	-		32332451	1	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32332451	C	T	32332451	3	4	102	1	0	0	0	0	1	0	0	0	13768	855	30	2	157	2	RXFP2	13	32332451	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5086378	32332451	82837427	488	6398											
NBEA	26960	genome.wustl.edu	37	chr13	36223825	36223825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagtccgctcatgtttaaaGatcagatgcaacaggatgtg	11	7	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:36223825G>A	ENST00000400445.3	+	51	8275	c.7741G>A	c.(7741-7743)Gat>Aat	p.D2581N	NBEA_ENST00000310336.4_Missense_Mutation_p.D2581N|NBEA_ENST00000540320.1_Missense_Mutation_p.D2581N|NBEA_ENST00000537702.1_Missense_Mutation_p.D374N|NBEA_ENST00000379922.3_Missense_Mutation_p.D159N|NBEA_ENST00000379939.2_Missense_Mutation_p.D2578N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2581					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATGTTTAAAGATCAGATGCA	0.448																																																	0								ENSG00000172915						216	210	212					13																	36223825		1979	4157	6136	NBEA	SO:0001583	missense	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7741G>A	13.37:g.36223825G>A	ENSP00000383295:p.Asp2581Asn	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.D2581N	ENST00000400445.3	37	c.7741	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220854	0.79464	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.36672	1.1	0.80722	D	1	B;P;B	0.44521	0.011;0.837;0.286	B;P;B	0.47044	0.024;0.535;0.088	T	0.67074	-0.5762	10	0.31617	T	0.26	.	19.1732	0.93588	0.0:0.0:1.0:0.0	.	2581;159;2578	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	N	2581;2581;2578;2581;1208;159;374;159	ENSP00000440951:D2581N;ENSP00000383295:D2581N;ENSP00000369271:D2578N;ENSP00000308534:D2581N;ENSP00000440233:D374N;ENSP00000369254:D159N	ENSP00000308534:D2581N	D	+	1	0	NBEA	35121825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.694000	0.98686	2.541000	0.85698	0.563000	0.77884	GAT	-	NULL		0.448	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		G	NM_015678	-		36223825	1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36223825	G	A	36223825	3	1	102	1	0	0	0	0	1	0	0	0	10189	942	33	2	7943	2	NBEA	13	36223825	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3891374	36223825	78946053	489	6399											
KIAA0564	23078	genome.wustl.edu	37	chr13	42404773	42404773	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcttagctctcgatcatggAttaacctaacaagataagaa	8	8	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:42404773A>T	ENST00000379310.3	-	14	1660	c.1592T>A	c.(1591-1593)aTc>aAc	p.I531N	VWA8_ENST00000281496.6_Missense_Mutation_p.I531N	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	531						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCGATCATGGATTAACCTAAC	0.398																																																	0								ENSG00000102763						80	75	77					13																	42404773		2203	4300	6503	VWA8	SO:0001583	missense	0			-	HGNC	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1592T>A	13.37:g.42404773A>T	ENSP00000368612:p.Ile531Asn	Somatic	0	28	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.I531N	ENST00000379310.3	37	c.1592	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622792	0.87460	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.59083	0.29;0.29	5.91	5.91	0.95273	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.059957	0.64402	D	0.000003	T	0.74473	0.3721	M	0.66439	2.03	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.77081	-0.2720	10	0.87932	D	0	.	16.3486	0.83191	1.0:0.0:0.0:0.0	.	531	A3KMH1	K0564_HUMAN	N	435;531;531	ENSP00000368612:I531N;ENSP00000281496:I531N	ENSP00000251030:I435N	I	-	2	0	KIAA0564	41302773	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.046000	0.93817	2.259000	0.74868	0.528000	0.53228	ATC	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.398	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	A	NM_015058	-		42404773	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42404773	A	T	42404773	3	4	102	1	0	0	0	0	1	0	0	0	8187	333	12	5	4257	5	KIAA0564	13	42404773	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	6180948	42404773	72765105	490	6400											
ANKRD10	55608	genome.wustl.edu	37	chr13	111532383	111532383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccactgagcggggtcgtGgaggggaagtccaaatgtcc	15	10	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:111532383G>A	ENST00000267339.2	-	6	998	c.864C>T	c.(862-864)tcC>tcT	p.S288S	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	288										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GCGGGGTCGTGGAGGGGAAGT	0.473																																																	0								ENSG00000088448						72	74	73					13																	111532383		2203	4300	6503	ANKRD10	SO:0001819	synonymous_variant	0			-	HGNC	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"Ankyrin repeat domain containing"	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.864C>T	13.37:g.111532383G>A		Somatic	0	34	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	Q5VW12|Q9BV12	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S288	ENST00000267339.2	37	c.864	CCDS9520.1	13																																																																																			-	NULL		0.473	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD10	protein_coding	OTTHUMT00000045783.1	G		-		111532383	-1	no_errors	ENST00000267339	ensembl	human	known	74_37	silent	SNP	0.228	A	A	111532383	G	A	111532383	2	1	102	1	0	0	0	0	0	0	0	1	638	1335	47	2		2	ANKRD10	13	111532383	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	69127610	111532383	3637495	491	6401											
MCF2L	23263	genome.wustl.edu	37	chr13	113743994	113743994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccccctaagcctggagGgatacgtcagctcagcgcca	11	15	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:113743994G>A	ENST00000375608.3	+	27	3053	c.2995G>A	c.(2995-2997)Gga>Aga	p.G999R	MCF2L_ENST00000434480.2_Missense_Mutation_p.G975R|MCF2L_ENST00000375597.4_Missense_Mutation_p.G967R|MCF2L_ENST00000421756.1_Missense_Mutation_p.G973R|MCF2L_ENST00000375601.3_Missense_Mutation_p.G973R|MCF2L_ENST00000535094.2_Missense_Mutation_p.G969R|MCF2L_ENST00000397030.1_Missense_Mutation_p.G1002R|MCF2L_ENST00000375604.2_Missense_Mutation_p.G1026R|MCF2L_ENST00000442652.2_Missense_Mutation_p.G999R|MCF2L_ENST00000423482.2_Missense_Mutation_p.G967R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	999					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAGCCTGGAGGGATACGTCAG	0.537																																																	0								ENSG00000126217						92	78	83					13																	113743994		2203	4300	6503	MCF2L	SO:0001583	missense	0			-	HGNC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2995G>A	13.37:g.113743994G>A	ENSP00000364758:p.Gly999Arg	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	8	61.90	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP							pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G1026R	ENST00000375608.3	37	c.3076		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727527|2.727527	0.48833|0.48833	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297;ENST00000439475|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.35973	.|1.33;1.33;1.28;1.36;1.3;1.36;1.29;1.33;1.3;1.33	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.412717|0.412717	0.23866|0.23866	N|N	0.043793|0.043793	T|T	0.53481|0.53481	0.1799|0.1799	M|M	0.70595|0.70595	2.14|2.14	0.45439|0.45439	D|D	0.998418|0.998418	.|P;P;D;P;P	.|0.53151	.|0.889;0.889;0.958;0.906;0.823	.|P;P;P;P;B	.|0.56612	.|0.637;0.637;0.755;0.802;0.434	T|T	0.55101|0.55101	-0.8193|-0.8193	6|9	.|.	.|.	.|.	.|.	15.8446|15.8446	0.78876|0.78876	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;969;1026;967;999	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	E|R	629;123;74|999;999;1026;1002;969;973;973;975;967;967;810	.|ENSP00000364758:G999R;ENSP00000401422:G999R;ENSP00000364754:G1026R;ENSP00000380225:G1002R;ENSP00000440374:G969R;ENSP00000397285:G973R;ENSP00000364751:G973R;ENSP00000407722:G975R;ENSP00000405639:G967R;ENSP00000364747:G967R	.|.	G|G	+|+	2|1	0|0	MCF2L|MCF2L	112791995|112791995	1.000000|1.000000	0.71417|0.71417	0.682000|0.682000	0.30024|0.30024	0.011000|0.011000	0.07611|0.07611	3.483000|3.483000	0.53194|0.53194	2.147000|2.147000	0.66899|0.66899	0.563000|0.563000	0.77884|0.77884	GGG|GGA	-	NULL		0.537	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	protein_coding	OTTHUMT00000045849.4	G		-		113743994	1	no_errors	ENST00000375604	ensembl	human	known	74_37	missense	SNP	0.912	A	A	113743994	G	A	113743994	3	1	102	1	0	0	0	0	1	0	0	0	9381	1233	43	2	3273	2	MCF2L	13	113743994	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2211611	113743994	1425884	492	6402											
FAM70B	348013	genome.wustl.edu	37	chr13	114514803	114514803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctggctctgggcttcCcggccaggctccaccgtgct	12	17	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:114514803C>T	ENST00000375353.3	+	9	935	c.908C>T	c.(907-909)cCc>cTc	p.P303L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	303	Pro-rich.					integral component of membrane (GO:0016021)											TCTGGGCTTCCCGGCCAGGCT	0.642																																																	0								ENSG00000184497						58	70	66					13																	114514803		2203	4300	6503	TMEM255B	SO:0001583	missense	0			-	HGNC	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.908C>T	13.37:g.114514803C>T	ENSP00000364502:p.Pro303Leu	Somatic	0	159	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	56	33.33		Missense_Mutation	SNP							NULL	p.P303L	ENST00000375353.3	37	c.908	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958626	0.34565	.	.	ENSG00000184497	ENST00000375353	T	0.49139	0.79	4.72	2.82	0.32997	.	.	.	.	.	T	0.47637	0.1456	L	0.58101	1.795	0.09310	N	1	P	0.41848	0.763	B	0.42422	0.387	T	0.35847	-0.9772	9	0.51188	T	0.08	-4.932	11.8754	0.52544	0.3156:0.6844:0.0:0.0	.	303	Q8WV15	FA70B_HUMAN	L	303	ENSP00000364502:P303L	ENSP00000364502:P303L	P	+	2	0	FAM70B	113599140	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.665000	0.25083	0.944000	0.37579	0.591000	0.81541	CCC	-	NULL		0.642	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM255B	protein_coding	OTTHUMT00000045953.4	C	NM_182614	-		114514803	1	no_errors	ENST00000375353	ensembl	human	known	74_37	missense	SNP	0.023	T	T	114514803	C	T	114514803	3	4	102	1	0	0	0	0	1	0	0	0	5608	623	22	2	942	2	FAM70B	13	114514803	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	770809	114514803	655075	493	6403											
OR4Q3	441669	genome.wustl.edu	37	chr14	20216001	20216001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccttacagtcatgaacCcccagctatgcctttggttg	8	13	1	1	rs534518521	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20216001C>T	ENST00000331723.1	+	1	415	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139						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)		AGTCATGAACCCCCAGCTATG	0.502																																																	0								ENSG00000182652						109	114	112					14																	20216001		2200	4300	6500	OR4Q3	SO:0001583	missense	0			-	HGNC	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.415C>T	14.37:g.20216001C>T	ENSP00000330049:p.Pro139Ser	Somatic	0	103	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	Q6IEX4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P139S	ENST00000331723.1	37	c.415	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	0.783	-0.761766	0.02996	.	.	ENSG00000182652	ENST00000331723	T	0.00495	6.99	4.36	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	1.224670	0.06201	U	0.683327	T	0.00496	0.0016	L	0.46947	1.48	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49244	-0.8960	10	0.52906	T	0.07	.	3.4983	0.07664	0.2103:0.5764:0.0:0.2133	.	139	Q8NH05	OR4Q3_HUMAN	S	139	ENSP00000330049:P139S	ENSP00000330049:P139S	P	+	1	0	OR4Q3	19285841	0.000000	0.05858	0.808000	0.32385	0.057000	0.15508	-0.191000	0.09601	0.429000	0.26202	0.406000	0.27484	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	protein_coding	OTTHUMT00000409818.2	C		-		20216001	1	no_errors	ENST00000331723	ensembl	human	known	74_37	missense	SNP	0.000	T	T	20216001	C	T	20216001	3	4	102	1	0	0	0	0	1	0	0	0	11083	623	22	2	417	2	OR4Q3	14	20216001	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		20216001	87133539	494	6404											
OR4K13	390433	genome.wustl.edu	37	chr14	20502028	20502028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagtctttttttaatgGctgcttttacctcttgattt	7	7	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20502028G>A	ENST00000315693.2	-	1	891	c.890C>T	c.(889-891)gCc>gTc	p.A297V	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTTTAATGGCTGCTTTTAC	0.289																																																	0								ENSG00000176253						18	19	18					14																	20502028		2198	4288	6486	OR4K13	SO:0001583	missense	0			-	HGNC		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.890C>T	14.37:g.20502028G>A	ENSP00000319322:p.Ala297Val	Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q6IF13	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A297V	ENST00000315693.2	37	c.890	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	10.95	1.495862	0.26774	.	.	ENSG00000176253	ENST00000315693	T	0.44881	0.91	3.47	3.47	0.39725	.	0.000000	0.38778	U	0.001565	T	0.48132	0.1483	M	0.81942	2.565	0.19300	N	0.999976	P	0.39748	0.686	B	0.40228	0.323	T	0.53662	-0.8407	10	0.72032	D	0.01	.	13.8604	0.63557	0.0:0.0:1.0:0.0	.	297	Q8NH42	OR4KD_HUMAN	V	297	ENSP00000319322:A297V	ENSP00000319322:A297V	A	-	2	0	OR4K13	19571868	0.368000	0.25031	0.900000	0.35374	0.444000	0.32077	3.084000	0.50143	1.781000	0.52344	0.407000	0.27541	GCC	-	NULL		0.289	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	protein_coding	OTTHUMT00000410344.1	G		-		20502028	-1	no_errors	ENST00000315693	ensembl	human	known	74_37	missense	SNP	0.423	A	A	20502028	G	A	20502028	3	1	102	1	0	0	0	0	1	0	0	0	11070	1203	42	2	26	2	OR4K13	14	20502028	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	286027	20502028	86847512	495	6405											
OR11H6	122748	genome.wustl.edu	37	chr14	20692861	20692861	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagttagccaaaactgAgatatctttgaaaaagaagc	7	6	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20692861A>T	ENST00000315519.2	+	1	1071	c.993A>T	c.(991-993)tgA>tgT	p.*331C		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCAAAACTGAGATATCTTTG	0.373																																																	0								ENSG00000176219						58	64	62					14																	20692861		2192	4280	6472	OR11H6	SO:0001578	stop_lost	0			-	HGNC		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.993A>T	14.37:g.20692861A>T	ENSP00000319071:p.*331Cysext*18	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q6IF08	Nonstop_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*331C	ENST00000315519.2	37	c.993	CCDS32033.1	14	.	.	.	.	.	.	.	.	.	.	A	2.050	-0.417848	0.04766	.	.	ENSG00000176219	ENST00000315519	.	.	.	5.49	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2222	0.15375	0.7585:0.0:0.0845:0.1571	.	.	.	.	C	331	.	.	X	+	3	0	OR11H6	19762701	0.003000	0.15002	0.737000	0.30932	0.018000	0.09664	0.297000	0.19101	1.021000	0.39600	-0.270000	0.10280	TGA	-	NULL		0.373	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	protein_coding	OTTHUMT00000410676.1	A		-		20692861	1	no_errors	ENST00000315519	ensembl	human	known	74_37	nonstop	SNP	0.588	T	T	20692861	A	T	20692861	4	4	102	1	0	0	0	0	0	0	0	0	10931	319	11	5	995	5	OR11H6	14	20692861	Nonstop_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	190833	20692861	86656679	496	6406											
MYH7	4625	genome.wustl.edu	37	chr14	23889067	23889067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccttggccttgatgAtctgctccatgttggaggtg	13	10	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:23889067A>C	ENST00000355349.3	-	27	3875	c.3713T>G	c.(3712-3714)aTc>aGc	p.I1238S	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1238					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCCTTGATGATCTGCTCCAT	0.562																																																	0								ENSG00000092054						128	113	118					14																	23889067		2203	4299	6502	MYH7	SO:0001583	missense	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3713T>G	14.37:g.23889067A>C	ENSP00000347507:p.Ile1238Ser	Somatic	0	86	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1238S	ENST00000355349.3	37	c.3713	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447086	0.63178	.	.	ENSG00000092054	ENST00000355349	T	0.79352	-1.26	4.98	4.98	0.66077	Myosin tail (1);	.	.	.	.	T	0.79317	0.4425	L	0.53249	1.67	0.47994	D	0.999562	B	0.27166	0.17	B	0.39339	0.297	T	0.79943	-0.1590	9	0.87932	D	0	.	14.8374	0.70194	1.0:0.0:0.0:0.0	.	1238	P12883	MYH7_HUMAN	S	1238	ENSP00000347507:I1238S	ENSP00000347507:I1238S	I	-	2	0	MYH7	22958907	0.634000	0.27190	1.000000	0.80357	0.997000	0.91878	5.675000	0.68123	2.088000	0.63022	0.533000	0.62120	ATC	-	pfam_Myosin_tail		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	A	NM_000257	-		23889067	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	SNP	1.000	C	C	23889067	A	C	23889067	3	2	102	1	0	0	0	0	1	0	0	0	10041	333	12	5	2150	5	MYH7	14	23889067	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	3196206	23889067	83460473	497	6407											
AP1G2	8906	genome.wustl.edu	37	chr14	24033590	24033590	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgaccaagaatgttgacaGctagaacctatgagaggcag	12	8	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24033590G>C	ENST00000308724.5	-	9	1684	c.929C>G	c.(928-930)gCt>gGt	p.A310G	AP1G2_ENST00000397120.3_Missense_Mutation_p.A310G|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	310					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)			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)		AATGTTGACAGCTAGAACCTA	0.522																																																	0								ENSG00000213983						137	113	121					14																	24033590		2203	4300	6503	AP1G2	SO:0001583	missense	0			-	HGNC	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.929C>G	14.37:g.24033590G>C	ENSP00000312442:p.Ala310Gly	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	D3DS51|O75504	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.A310G	ENST00000308724.5	37	c.929	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439830	0.83885	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.14766	2.48;2.48	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.51422	1.61	0.80722	D	1	P;D	0.55605	0.892;0.972	D;P	0.63597	0.916;0.887	T	0.00926	-1.1512	10	0.28530	T	0.3	-7.7844	14.4989	0.67707	0.0:0.0:1.0:0.0	.	310;165	O75843;Q86V28	AP1G2_HUMAN;.	G	310;310;79;165	ENSP00000312442:A310G;ENSP00000380309:A310G	ENSP00000312442:A310G	A	-	2	0	AP1G2	23103430	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.234000	0.89801	2.269000	0.75478	0.557000	0.71058	GCT	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu		0.522	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	protein_coding	OTTHUMT00000071812.4	G	NM_003917	-		24033590	-1	no_errors	ENST00000308724	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24033590	G	C	24033590	3	2	102	1	0	0	0	0	1	0	0	0	733	971	34	4	1480	4	AP1G2	14	24033590	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	144523	24033590	83315950	498	6408											
CPNE6	9362	genome.wustl.edu	37	chr14	24542163	24542163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgtcggaccctgagatGggatgggtgcctgagccccc	15	12	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24542163G>A	ENST00000397016.2	+	3	329	c.18G>A	c.(16-18)atG>atA	p.M6I	CPNE6_ENST00000216775.2_Missense_Mutation_p.M6I|CPNE6_ENST00000537691.1_Missense_Mutation_p.M61I|CPNE6_ENST00000560092.1_Intron	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	6					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ACCCTGAGATGGGATGGGTGC	0.642																																																	0								ENSG00000100884						35	31	33					14																	24542163		2203	4300	6503	CPNE6	SO:0001583	missense	0			-	HGNC	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.18G>A	14.37:g.24542163G>A	ENSP00000380211:p.Met6Ile	Somatic	0	121	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.M61I	ENST00000397016.2	37	c.183	CCDS9607.1	14	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061326	0.36373	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.06068	3.35;3.39;3.39	4.58	3.62	0.41486	C2 calcium/lipid-binding domain, CaLB (1);	0.113229	0.40302	N	0.001122	T	0.05868	0.0153	L	0.33339	1.005	0.29724	N	0.838434	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.001	T	0.05582	-1.0876	10	0.72032	D	0.01	-25.7871	10.0979	0.42486	0.0:0.204:0.796:0.0	.	61;6	F5GXN1;O95741	.;CPNE6_HUMAN	I	61;6;6	ENSP00000440077:M61I;ENSP00000380211:M6I;ENSP00000216775:M6I	ENSP00000216775:M6I	M	+	3	0	CPNE6	23612003	.	.	0.997000	0.53966	0.993000	0.82548	.	.	2.543000	0.85770	0.563000	0.77884	ATG	-	superfamily_C2_dom		0.642	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	protein_coding	OTTHUMT00000071869.5	G		-		24542163	1	no_errors	ENST00000537691	ensembl	human	known	74_37	missense	SNP	0.998	A	A	24542163	G	A	24542163	3	1	102	1	0	0	0	0	1	0	0	0	3818	1348	47	2	20	2	CPNE6	14	24542163	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	508573	24542163	82807377	499	6409											
IRF9	10379	genome.wustl.edu	37	chr14	24631361	24631361	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attatcccccaggatggcatCaggcagggcacgctgcaccc	11	15	1	0	rs367862499		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24631361C>T	ENST00000396864.3	+	2	295	c.8C>T	c.(7-9)tCa>tTa	p.S3L	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	3					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGGATGGCATCAGGCAGGGCA	0.557																																																	0								ENSG00000213928	C	LEU/SER	0,4406		0,0,2203	96	93	94		8	4.2	0.9	14		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	IRF9	NM_006084.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	3/394	24631361	1,13005	2203	4300	6503	IRF9	SO:0001583	missense	0			-	HGNC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.8C>T	14.37:g.24631361C>T	ENSP00000380073:p.Ser3Leu	Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	D3DS61	Missense_Mutation	SNP							pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.S3L	ENST00000396864.3	37	c.8	CCDS9615.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454446	0.84209	0.0	1.16E-4	ENSG00000213928	ENST00000396864	D	0.97352	-4.35	5.08	4.19	0.49359	.	0.216271	0.29668	U	0.011506	D	0.95878	0.8658	L	0.51422	1.61	0.80722	D	1	P	0.51057	0.941	P	0.47864	0.559	D	0.95449	0.8532	10	0.66056	D	0.02	-0.681	12.5396	0.56161	0.0:0.9184:0.0:0.0816	.	3	Q00978	IRF9_HUMAN	L	3	ENSP00000380073:S3L	ENSP00000380073:S3L	S	+	2	0	IRF9	23701201	0.001000	0.12720	0.896000	0.35187	0.959000	0.62525	0.915000	0.28638	1.380000	0.46344	0.650000	0.86243	TCA	-	NULL		0.557	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	protein_coding	OTTHUMT00000071927.2	C		-		24631361	1	no_errors	ENST00000396864	ensembl	human	known	74_37	missense	SNP	0.803	T	T	24631361	C	T	24631361	3	4	102	1	0	0	0	0	1	0	0	0	7839	838	29	2	10	2	IRF9	14	24631361	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	89198	24631361	82718179	500	6410											
TGM1	7051	genome.wustl.edu	37	chr14	24731502	24731502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggagatggcgtggtaggGggctgcaaggggttgccacc	19	8	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24731502G>A	ENST00000206765.6	-	2	180	c.57C>T	c.(55-57)ccC>ccT	p.P19P	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	19	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCGTGGTAGGGGGCTGCAAGG	0.632																																																	0								ENSG00000092295						58	50	52					14																	24731502		2203	4300	6503	TGM1	SO:0001819	synonymous_variant	0			-	HGNC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.57C>T	14.37:g.24731502G>A		Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B4DWR7|Q197M4	Silent	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.P19	ENST00000206765.6	37	c.57	CCDS9622.1	14																																																																																			-	NULL		0.632	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	protein_coding	OTTHUMT00000073160.6	G	NM_000359	-		24731502	-1	no_errors	ENST00000206765	ensembl	human	known	74_37	silent	SNP	0.901	A	A	24731502	G	A	24731502	2	1	102	1	0	0	0	0	0	0	0	1	15836	1219	43	2		2	TGM1	14	24731502	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	100141	24731502	82618038	501	6411											
CIDEB	27141	genome.wustl.edu	37	chr14	24775214	24775214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catagagtagagcccgtagaAtgtggctttgacattcaggc	12	8	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24775214A>C	ENST00000336557.5	-	7	1768	c.466T>G	c.(466-468)Ttc>Gtc	p.F156V	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Missense_Mutation_p.F156V|CIDEB_ENST00000258807.5_Missense_Mutation_p.F156V|LTB4R2_ENST00000528054.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	156					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGCCCGTAGAATGTGGCTTTG	0.502																																																	0								ENSG00000136305						154	142	146					14																	24775214		2203	4300	6503	CIDEB	SO:0001583	missense	0			-	HGNC	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.466T>G	14.37:g.24775214A>C	ENSP00000337731:p.Phe156Val	Somatic	0	112	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.46	D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP							pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.F156V	ENST00000336557.5	37	c.466	CCDS32056.1	14	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663555	0.88251	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	T;T;T	0.81330	-1.48;-1.48;-1.48	5.08	5.08	0.68730	.	0.050751	0.85682	D	0.000000	D	0.87525	0.6199	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	D	0.88906	0.3356	10	0.72032	D	0.01	-28.8868	13.9714	0.64242	1.0:0.0:0.0:0.0	.	156	Q9UHD4	CIDEB_HUMAN	V	156	ENSP00000451089:F156V;ENSP00000337731:F156V;ENSP00000258807:F156V	ENSP00000258807:F156V	F	-	1	0	CIDEB	23845054	0.999000	0.42202	0.991000	0.47740	0.989000	0.77384	4.260000	0.58835	2.144000	0.66660	0.460000	0.39030	TTC	-	NULL		0.502	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	protein_coding	OTTHUMT00000414120.1	A		-		24775214	-1	no_errors	ENST00000258807	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24775214	A	C	24775214	3	2	102	1	0	0	0	0	1	0	0	0	3428	101	4	5	201	5	CIDEB	14	24775214	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	43712	24775214	82574326	502	6412											
PRKD1	5587	genome.wustl.edu	37	chr14	30046618	30046618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggtgatgtagcgctccccGattttgcattccagctctcg	11	12	1	1	rs143388121		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:30046618G>A	ENST00000331968.5	-	18	2794	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	PRKD1_ENST00000415220.2_Silent_p.I863I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	855					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)	p.I855I(2)		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)		AGCGCTCCCCGATTTTGCATT	0.468																																																	2	Substitution - coding silent(2)	large_intestine(2)						ENSG00000184304	G		0,4406		0,0,2203	122	112	115		2565	-8.1	0.8	14	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRKD1	NM_002742.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		855/913	30046618	1,13005	2203	4300	6503	PRKD1	SO:0001819	synonymous_variant	0			-	HGNC		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.2565C>T	14.37:g.30046618G>A		Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A6NL64|B2RAF6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.I855	ENST00000331968.5	37	c.2565	CCDS9637.1	14																																																																																			-	superfamily_Kinase-like_dom		0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742	rs143388121		30046618	-1	no_errors	ENST00000331968	ensembl	human	known	74_37	silent	SNP	0.191	A	A	30046618	G	A	30046618	2	1	102	1	0	0	0	0	0	0	0	1	12523	1048	37	1		1	PRKD1	14	30046618	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5271404	30046618	77302922	503	6413											
ARHGAP5	394	genome.wustl.edu	37	chr14	32560023	32560023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaagcagatgaatatTatccagagcatacttctgtg	8	8	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:32560023T>C	ENST00000345122.3	+	2	463	c.148T>C	c.(148-150)Tat>Cat	p.Y50H	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Y50H|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Y50H|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Y50H	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	50					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)			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)		AGATGAATATTATCCAGAGCA	0.383																																					NSCLC(9;77 350 3443 29227 41353)												0								ENSG00000100852						129	123	125					14																	32560023		2203	4300	6503	ARHGAP5	SO:0001583	missense	0			-	HGNC	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.148T>C	14.37:g.32560023T>C	ENSP00000371897:p.Tyr50His	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.Y50H	ENST00000345122.3	37	c.148	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	T	0.444	-0.897218	0.02472	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;1.0	5.55	4.33	0.51752	.	0.122426	0.56097	D	0.000023	T	0.62853	0.2462	N	0.19112	0.55	0.54753	D	0.999983	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.005	T	0.56709	-0.7934	10	0.02654	T	1	.	11.4836	0.50339	0.1345:0.0:0.0:0.8655	.	50;50	Q13017-2;Q13017	.;RHG05_HUMAN	H	50	ENSP00000452222:Y50H;ENSP00000441692:Y50H;ENSP00000371897:Y50H;ENSP00000393307:Y50H;ENSP00000451579:Y50H	ENSP00000371897:Y50H	Y	+	1	0	ARHGAP5	31629774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.078000	0.64425	2.098000	0.63641	0.528000	0.53228	TAT	-	superfamily_P-loop_NTPase		0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	T	NM_001030055	-		32560023	1	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32560023	T	C	32560023	3	2	102	1	0	0	0	0	1	0	0	0	886	1754	61	5	150	5	ARHGAP5	14	32560023	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	2513405	32560023	74789517	504	6414											
NPAS3	64067	genome.wustl.edu	37	chr14	34263252	34263252	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaattaccttcttaggTatattttctacttcttttct	6	7	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:34263252T>C	ENST00000356141.4	+	10	1301		c.e10+2		NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551492.1_Splice_Site|NPAS3_ENST00000346562.2_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTTCTTAGGTATATTTTCTA	0.333																																																	0								ENSG00000151322						90	80	83					14																	34263252		2203	4300	6503	NPAS3	SO:0001630	splice_region_variant	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1301+2T>C	14.37:g.34263252T>C		Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP							-	e10+2	ENST00000356141.4	37	c.1301+2	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929190	0.73327	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3939	0.83550	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	33333003	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.276000	0.75962	0.455000	0.32223	.	-	-		0.333	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	T		-	Intron	34263252	1	no_errors	ENST00000356141	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	34263252	T	C	34263252	5	2	102	1	0	0	0	0	0	0	1	0	10566	1652	57	5	1396	5	NPAS3	14	34263252	Splice_Site	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1703229	34263252	73086288	505	6415											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36074835	36074835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcttcatatgcttgacttCctcctgtattggtgagaatg	8	8	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:36074835C>T	ENST00000389698.3	-	35	5882	c.5492G>A	c.(5491-5493)gGa>gAa	p.G1831E	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1831E|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1844E|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1878E	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1831	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTTGACTTCCTCCTGTATT	0.333																																																	0								ENSG00000174373						95	88	90					14																	36074835		2203	4300	6503	RALGAPA1	SO:0001583	missense	0			-	HGNC	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5492G>A	14.37:g.36074835C>T	ENSP00000374348:p.Gly1831Glu	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP							pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.G1878E	ENST00000389698.3	37	c.5633	CCDS32065.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.919353|4.919353	0.92249|0.92249	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.95307	.|-3.67;-3.67;-3.67;-3.67;-3.67;-3.67	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97576|0.97576	0.9206|0.9206	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.998;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;0.976;1.0	D|D	0.98102|0.98102	1.0415|1.0415	5|10	.|0.87932	.|D	.|0	-18.7454|-18.7454	19.3243|19.3243	0.94254|0.94254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1878;1844;1831;1831	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	K|E	114|1831;1831;1831;1878;469;1844;1878	.|ENSP00000374348:G1831E;ENSP00000302647:G1831E;ENSP00000258840:G1878E;ENSP00000451133:G469E;ENSP00000371803:G1844E;ENSP00000451877:G1878E	.|ENSP00000258840:G1878E	E|G	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35144586|35144586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.729000|7.729000	0.84864|0.84864	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GAA|GGA	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.333	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	protein_coding	OTTHUMT00000409829.1	C	XM_210022	-		36074835	-1	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36074835	C	T	36074835	3	4	102	1	0	0	0	0	1	0	0	0	13021	855	30	2	795	2	RALGAPA1	14	36074835	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1811583	36074835	71274705	506	6416											
TRAPPC6B	122553	genome.wustl.edu	37	chr14	39619587	39619588	+	Splice_Site	INS	-	-	A													tcatcacctgaaatttgcctINSaaaaaaaaaaatacaaataa					rs150886646		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:39619587_39619588insA	ENST00000330149.5	-	6	672		c.e6-2		TRAPPC6B_ENST00000347691.5_Splice_Site|TRAPPC6B_ENST00000557764.1_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		GAAATTTGCCTAAAAAAAAAAA	0.272																																																	0								ENSG00000182400																																			TRAPPC6B	SO:0001630	splice_region_variant	0				HGNC	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"Trafficking protein particle complex"	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.446-2->T	14.37:g.39619598_39619598dupA		Somatic	0	51	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B3KPS2|Q5JPD6|Q86U35|Q86X35	Splice_Site	INS							-	e5-2	ENST00000330149.5	37	c.362-3_362-2	CCDS41947.1	14																																																																																			-	-		0.272	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	TRAPPC6B	protein_coding	OTTHUMT00000276775.1	-	NM_177452		Intron	39619588	-1	no_errors	ENST00000347691	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.967	A	A	39619588	-	A	39619587	8	5	102	1	0	1	1	0	0	0	1	0	16471	1536	53	0	36	0	TRAPPC6B	14	39619587	Splice_Site	INS	-	TCGA-DX-A8BP-01A-11D-A37C-09	3544752	39619587	67729953	507	6417											
LRFN5	145581	genome.wustl.edu	37	chr14	42356729	42356729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagatgagagtcctggagGgacaaagggcaacactgagg	16	6	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:42356729G>A	ENST00000298119.4	+	3	2090	c.901G>A	c.(901-903)Gga>Aga	p.G301R	LRFN5_ENST00000554171.1_Missense_Mutation_p.G301R|LRFN5_ENST00000554120.1_Missense_Mutation_p.G301R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTCCTGGAGGGACAAAGGGC	0.468										HNSCC(30;0.082)																																							0								ENSG00000165379						111	106	108					14																	42356729		2203	4300	6503	LRFN5	SO:0001583	missense	0			-	HGNC	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.901G>A	14.37:g.42356729G>A	ENSP00000298119:p.Gly301Arg	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	B3KU78|Q86XL2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G301R	ENST00000298119.4	37	c.901	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789784	0.70337	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.81330	-1.48;-1.48;-1.48	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	D	0.92854	0.7727	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94588	0.7785	10	0.87932	D	0	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	301;301	G3V364;Q96NI6	.;LRFN5_HUMAN	R	301	ENSP00000298119:G301R;ENSP00000451897:G301R;ENSP00000451067:G301R	ENSP00000298119:G301R	G	+	1	0	LRFN5	41426479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GGA	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	protein_coding	OTTHUMT00000276786.1	G	NM_152447	-		42356729	1	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42356729	G	A	42356729	3	1	102	1	0	0	0	0	1	0	0	0	8943	1233	43	2	903	2	LRFN5	14	42356729	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2737142	42356729	64992811	508	6418											
ATL1	51062	genome.wustl.edu	37	chr14	51094955	51094955	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgatagcaaaaatatcttCcatgcagctcgtaccccagc	6	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:51094955C>T	ENST00000358385.6	+	12	1567	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	ATL1_ENST00000441560.2_Silent_p.F442F|ATL1_ENST00000357032.3_Silent_p.F442F|ATL1_ENST00000354525.4_Silent_p.F442F	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	442					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAAATATCTTCCATGCAGCTC	0.428																																																	0								ENSG00000198513						204	174	184					14																	51094955		2203	4300	6503	ATL1	SO:0001819	synonymous_variant	0			-	HGNC	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1326C>T	14.37:g.51094955C>T		Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP							pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.F442	ENST00000358385.6	37	c.1326	CCDS9700.1	14																																																																																			-	superfamily_Guanylate-bd_C		0.428	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	protein_coding	OTTHUMT00000276884.2	C		-		51094955	1	no_errors	ENST00000357032	ensembl	human	known	74_37	silent	SNP	1.000	T	T	51094955	C	T	51094955	2	4	102	1	0	0	0	0	0	0	0	1	1106	854	30	2		2	ATL1	14	51094955	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8738226	51094955	56254585	509	6419											
C14orf37	145407	genome.wustl.edu	37	chr14	58598416	58598416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgaactcctcatttgGccctgtgactgtgtccattt	10	10	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:58598416G>T	ENST00000267485.7	-	4	1839	c.1645C>A	c.(1645-1647)Cca>Aca	p.P549T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	549						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCCTCATTTGGCCCTGTGACT	0.478																																																	0								ENSG00000139971						118	119	119					14																	58598416		2203	4300	6503	C14orf37	SO:0001583	missense	0			-	HGNC		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1645C>A	14.37:g.58598416G>T	ENSP00000267485:p.Pro549Thr	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP							NULL	p.P549T	ENST00000267485.7	37	c.1645	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	2.354	-0.348119	0.05208	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.20881	2.04	5.98	2.84	0.33178	.	0.555420	0.18227	N	0.147685	T	0.13713	0.0332	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.26258	0.058;0.145;0.024;0.024	B;B;B;B	0.29176	0.04;0.099;0.04;0.04	T	0.21245	-1.0251	10	0.23891	T	0.37	-6.9901	3.2807	0.06915	0.2292:0.0:0.5655:0.2053	.	587;549;549;549	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	T	549;587	ENSP00000267485:P549T	ENSP00000267485:P549T	P	-	1	0	C14orf37	57668169	0.487000	0.25988	0.063000	0.19743	0.515000	0.34225	0.857000	0.27831	0.872000	0.35775	-0.840000	0.03056	CCA	-	NULL		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	protein_coding	OTTHUMT00000412059.1	G	NM_001001872	-		58598416	-1	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	SNP	0.020	T	T	58598416	G	T	58598416	3	4	102	1	0	0	0	0	1	0	0	0	1773	1203	42	3	699	3	C14orf37	14	58598416	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7503461	58598416	48751124	510	6420											
SLC8A3	6547	genome.wustl.edu	37	chr14	70634809	70634809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtttcttaattgtcacctCcctctcttgagaggtgatga	10	9	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:70634809C>T	ENST00000381269.2	-	2	1084	c.331G>A	c.(331-333)Gag>Aag	p.E111K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E111K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E111K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E111K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E111K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	111					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.E111*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTGTCACCTCCCTCTCTTGA	0.478																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000100678						101	87	92					14																	70634809		2203	4300	6503	SLC8A3	SO:0001583	missense	0			-	HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.331G>A	14.37:g.70634809C>T	ENSP00000370669:p.Glu111Lys	Somatic	0	90	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.E111K	ENST00000381269.2	37	c.331	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302539	0.60195	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35605	1.38;1.3;1.44;1.38;1.44	4.96	4.96	0.65561	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.52573	1.65	0.80722	D	1	P;P;P;B	0.38300	0.527;0.582;0.626;0.397	P;P;B;B	0.49922	0.492;0.626;0.307;0.307	T	0.14282	-1.0478	10	0.27082	T	0.32	.	12.7736	0.57436	0.0:0.9217:0.0:0.0783	.	111;111;111;111	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	K	111	ENSP00000349392:E111K;ENSP00000370669:E111K;ENSP00000350560:E111K;ENSP00000436688:E111K;ENSP00000433531:E111K	ENSP00000349392:E111K	E	-	1	0	SLC8A3	69704562	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.956000	0.56722	2.573000	0.86826	0.650000	0.86243	GAG	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.478	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	C		-		70634809	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70634809	C	T	70634809	3	4	102	1	0	0	0	0	1	0	0	0	14716	864	30	2	2591	2	SLC8A3	14	70634809	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	12036393	70634809	36714731	511	6421											
ADAM21	8747	genome.wustl.edu	37	chr14	70925007	70925007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattgaaatttggaatcaagGaaatgttttcccaatgacaa	7	5	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:70925007G>A	ENST00000603540.1	+	2	1049	c.791G>A	c.(790-792)gGa>gAa	p.G264E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G264E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	264	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAATCAAGGAAATGTTTTC	0.373																																																	0								ENSG00000139985						62	64	63					14																	70925007		2203	4300	6503	ADAM21	SO:0001583	missense	0			-	HGNC	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.791G>A	14.37:g.70925007G>A	ENSP00000474385:p.Gly264Glu	Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G264E	ENST00000603540.1	37	c.791	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.427739	0.01117	.	.	ENSG00000139985	ENST00000267499	T	0.61627	0.09	4.1	0.763	0.18459	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.526177	0.15593	N	0.254305	T	0.40743	0.1129	L	0.52206	1.635	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.29761	-1.0001	10	0.06099	T	0.92	.	4.787	0.13230	0.385:0.1581:0.4569:0.0	.	264	Q9UKJ8	ADA21_HUMAN	E	264	ENSP00000267499:G264E	ENSP00000267499:G264E	G	+	2	0	ADAM21	69994760	0.000000	0.05858	0.975000	0.42487	0.764000	0.43329	-1.327000	0.02682	0.407000	0.25591	0.557000	0.71058	GGA	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.373	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	protein_coding	OTTHUMT00000413008.3	G		-		70925007	1	no_errors	ENST00000267499	ensembl	human	known	74_37	missense	SNP	0.012	A	A	70925007	G	A	70925007	3	1	102	1	0	0	0	0	1	0	0	0	243	1174	41	2	793	2	ADAM21	14	70925007	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	290198	70925007	36424533	512	6422											
PCNX	22990	genome.wustl.edu	37	chr14	71444585	71444585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaccacctgggaacactGcagaaaacaaagaagagaag	10	9	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:71444585G>A	ENST00000304743.2	+	6	1977	c.1531G>A	c.(1531-1533)Gca>Aca	p.A511T	PCNX_ENST00000439984.3_Missense_Mutation_p.A511T|PCNX_ENST00000238570.5_Missense_Mutation_p.A511T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	511						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGGGAACACTGCAGAAAACAA	0.458																																																	0								ENSG00000100731						74	79	77					14																	71444585		2203	4300	6503	PCNX	SO:0001583	missense	0			-	HGNC	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1531G>A	14.37:g.71444585G>A	ENSP00000304192:p.Ala511Thr	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP							pfam_Pecanex	p.A511T	ENST00000304743.2	37	c.1531	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	G	0.680	-0.798581	0.02841	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.11277	3.27;3.27;2.79	4.47	-1.33	0.09172	.	0.828453	0.10998	N	0.610879	T	0.05318	0.0141	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.0;0.0;0.006	B;B;B	0.10450	0.001;0.001;0.005	T	0.42103	-0.9471	10	0.25751	T	0.34	.	2.5296	0.04700	0.1922:0.0993:0.4472:0.2613	.	511;511;511	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	T	511	ENSP00000304192:A511T;ENSP00000238570:A511T;ENSP00000396617:A511T	ENSP00000238570:A511T	A	+	1	0	PCNX	70514338	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	0.999000	0.29757	-0.517000	0.06461	-1.938000	0.00498	GCA	-	NULL		0.458	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	protein_coding	OTTHUMT00000412479.1	G	NM_014982	-		71444585	1	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	SNP	0.000	A	A	71444585	G	A	71444585	3	1	102	1	0	0	0	0	1	0	0	0	11593	1319	46	2	1553	2	PCNX	14	71444585	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	519578	71444585	35904955	513	6423											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72054645	72054645	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttgccactgacagggcctCtgttgttggcacagacggca	12	12	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:72054645C>T	ENST00000555818.1	+	2	404	c.56C>T	c.(55-57)tCt>tTt	p.S19F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S19F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S19F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	19					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACAGGGCCTCTGTTGTTGGC	0.507																																																	0								ENSG00000197555						97	95	96					14																	72054645		2203	4300	6503	SIPA1L1	SO:0001583	missense	0			-	HGNC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.56C>T	14.37:g.72054645C>T	ENSP00000450832:p.Ser19Phe	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.S19F	ENST00000555818.1	37	c.56	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925653	0.52759	.	.	ENSG00000197555	ENST00000557151;ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78481	-1.18;-1.18;-1.18	5.42	5.42	0.78866	.	0.225662	0.39274	N	0.001401	T	0.75236	0.3822	L	0.38175	1.15	0.80722	D	1	D;P;D	0.55385	0.971;0.624;0.971	P;B;P	0.49012	0.598;0.377;0.598	T	0.78272	-0.2268	10	0.87932	D	0	-17.4297	13.5172	0.61547	0.1559:0.844:0.0:0.0	.	19;19;19	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	F	19	ENSP00000370630:S19F;ENSP00000450832:S19F;ENSP00000351352:S19F	ENSP00000351352:S19F	S	+	2	0	SIPA1L1	71124398	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	5.377000	0.66184	2.687000	0.91594	0.655000	0.94253	TCT	-	NULL		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	C	NM_015556	-		72054645	1	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	SNP	0.998	T	T	72054645	C	T	72054645	3	4	102	1	0	0	0	0	1	0	0	0	14337	913	32	2	58	2	SIPA1L1	14	72054645	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	610060	72054645	35294895	514	6424											
PNMA1	9240	genome.wustl.edu	37	chr14	74180001	74180001	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggcaacatcttgcacggtCcacccctctctagctaggaa	9	15	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:74180001C>T	ENST00000316836.3	-	1	1127	c.342G>A	c.(340-342)tgG>tgA	p.W114*		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	114					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cttgcacggtccacccctctc	0.502																																																	0								ENSG00000176903						78	82	81					14																	74180001		2203	4300	6503	PNMA1	SO:0001587	stop_gained	0			-	HGNC	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.342G>A	14.37:g.74180001C>T	ENSP00000318914:p.Trp114*	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	A8K4L5|O95144|Q8NG07	Nonsense_Mutation	SNP							superfamily_Globin-like	p.W114*	ENST00000316836.3	37	c.342	CCDS9818.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.787996	0.99264	.	.	ENSG00000176903	ENST00000316836	.	.	.	4.06	4.06	0.47325	.	0.351753	0.21191	N	0.078645	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-5.4272	12.0532	0.53518	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000318914:W114X	W	-	3	0	PNMA1	73249754	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.984000	0.49353	2.551000	0.86045	0.655000	0.94253	TGG	-	NULL		0.502	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	protein_coding	OTTHUMT00000402774.1	C	NM_006029	-		74180001	-1	no_errors	ENST00000316836	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	74180001	C	T	74180001	4	4	102	1	0	0	0	0	0	1	0	0	12155	856	30	2	723	2	PNMA1	14	74180001	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2125356	74180001	33169539	515	6425											
ADCK1	57143	genome.wustl.edu	37	chr14	78353483	78353483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacccctctggggacggcctCcctggcccaggtccacaagg	12	18	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:78353483C>T	ENST00000238561.5	+	5	572	c.473C>T	c.(472-474)tCc>tTc	p.S158F	ADCK1_ENST00000341211.5_Missense_Mutation_p.S90F	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	165	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGACGGCCTCCCTGGCCCAG	0.582																																																	0								ENSG00000063761						100	98	99					14																	78353483		2203	4300	6503	ADCK1	SO:0001583	missense	0			-	HGNC	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.473C>T	14.37:g.78353483C>T	ENSP00000238561:p.Ser158Phe	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP							pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.S158F	ENST00000238561.5	37	c.473	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.422080	0.96111	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.80738	-1.41;-1.41;-1.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97226	0.9881	10	0.87932	D	0	-1.9553	20.3409	0.98764	0.0:1.0:0.0:0.0	.	90;158	Q9UIE6;Q86TW2-2	.;.	F	158;158;90	ENSP00000238561:S158F;ENSP00000451549:S158F;ENSP00000339663:S90F	ENSP00000238561:S158F	S	+	2	0	ADCK1	77423236	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.061000	0.71148	2.814000	0.96858	0.655000	0.94253	TCC	-	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	protein_coding	OTTHUMT00000413864.1	C	NM_020421	-		78353483	1	no_errors	ENST00000238561	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78353483	C	T	78353483	3	4	102	1	0	0	0	0	1	0	0	0	288	855	30	2	487	2	ADCK1	14	78353483	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4173482	78353483	28996057	516	6426											
SERPINA4	5267	genome.wustl.edu	37	chr14	95034521	95034521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctccatttctggctccTatgtattagatcagattttg	7	8	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:95034521T>C	ENST00000557004.1	+	4	1400	c.979T>C	c.(979-981)Tat>Cat	p.Y327H	SERPINA4_ENST00000298841.5_Missense_Mutation_p.Y327H|SERPINA4_ENST00000555095.1_Missense_Mutation_p.Y327H|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	327					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCTGGCTCCTATGTATTAGA	0.443																																																	0								ENSG00000100665						118	119	119					14																	95034521		2203	4300	6503	SERPINA4	SO:0001583	missense	0			-	HGNC	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.979T>C	14.37:g.95034521T>C	ENSP00000450838:p.Tyr327His	Somatic	0	79	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Y327H	ENST00000557004.1	37	c.979	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987864	0.74589	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85484	-1.99;-1.99;-1.99	5.45	5.45	0.79879	Serpin domain (3);	0.600069	0.14669	N	0.305454	D	0.91815	0.7410	M	0.86097	2.795	0.22745	N	0.998786	D;D	0.69078	0.997;0.985	D;D	0.67382	0.951;0.94	D	0.85048	0.0927	10	0.87932	D	0	.	9.2322	0.37444	0.0:0.0807:0.0:0.9193	.	327;327	B2R815;P29622	.;KAIN_HUMAN	H	327	ENSP00000450838:Y327H;ENSP00000451172:Y327H;ENSP00000298841:Y327H	ENSP00000298841:Y327H	Y	+	1	0	SERPINA4	94104274	0.001000	0.12720	0.058000	0.19502	0.656000	0.38851	1.054000	0.30455	2.067000	0.61834	0.533000	0.62120	TAT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.443	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	protein_coding	OTTHUMT00000410718.1	T	NM_006215	-		95034521	1	no_errors	ENST00000298841	ensembl	human	known	74_37	missense	SNP	0.037	C	C	95034521	T	C	95034521	3	2	102	1	0	0	0	0	1	0	0	0	14099	1522	53	5	989	5	SERPINA4	14	95034521	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	16681038	95034521	12315019	517	6427											
DICER1	23405	genome.wustl.edu	37	chr14	95562579	95562579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttccacacagtccgCtatgcttttgtcagcaatac	8	13	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:95562579C>T	ENST00000526495.1	-	25	4969	c.4678G>A	c.(4678-4680)Gcg>Acg	p.A1560T	DICER1_ENST00000343455.3_Missense_Mutation_p.A1560T|DICER1_ENST00000393063.1_Missense_Mutation_p.A1560T|DICER1_ENST00000556045.1_Missense_Mutation_p.A458T|DICER1_ENST00000541352.1_Missense_Mutation_p.A1560T|DICER1_ENST00000527414.1_Missense_Mutation_p.A1560T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1560					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACAGTCCGCTATGCTTTTG	0.522			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0								ENSG00000100697						86	87	87					14																	95562579		2203	4300	6503	DICER1	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	-	HGNC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4678G>A	14.37:g.95562579C>T	ENSP00000437256:p.Ala1560Thr	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.A1560T	ENST00000526495.1	37	c.4678	CCDS9931.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.024983|5.024983	0.93518|0.93518	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	D;D;D;D;D;D|.	0.82344|.	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Ribonuclease III (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75532|0.75532	0.3862|0.3862	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|T	0.72507|0.72507	-0.4272|-0.4272	10|5	0.87932|.	D|.	0|.	-20.0269|-20.0269	19.9983|19.9983	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;1560;1560|.	B3KRG4;E0AD28;Q9UPY3|.	.;.;DICER_HUMAN|.	T|N	1560;1560;1560;1560;458;1560|238	ENSP00000343745:A1560T;ENSP00000437256:A1560T;ENSP00000376783:A1560T;ENSP00000435681:A1560T;ENSP00000451041:A458T;ENSP00000444719:A1560T|.	ENSP00000343745:A1560T|.	A|S	-|-	1|2	0|0	DICER1|DICER1	94632332|94632332	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.998000|0.998000	0.95712|0.95712	7.456000|7.456000	0.80751|0.80751	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCG|AGC	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom		0.522	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	protein_coding	OTTHUMT00000387997.1	C		-		95562579	-1	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95562579	C	T	95562579	3	4	102	1	0	0	0	0	1	0	0	0	4523	797	28	2	1110	2	DICER1	14	95562579	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	528058	95562579	11786961	518	6428											
ATG2B	55102	genome.wustl.edu	37	chr14	96769409	96769409	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactcttaccatgttggagtGagcttttcgaggcatttctt	9	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:96769409G>A	ENST00000359933.4	-	33	5919	c.5026C>T	c.(5026-5028)Cac>Tac	p.H1676Y	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1676					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATGTTGGAGTGAGCTTTTCGA	0.343																																																	0								ENSG00000066739						111	109	110					14																	96769409		2203	4300	6503	ATG2B	SO:0001583	missense	0			-	HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5026C>T	14.37:g.96769409G>A	ENSP00000353010:p.His1676Tyr	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.H1676Y	ENST00000359933.4	37	c.5026	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899607	0.72754	.	.	ENSG00000066739	ENST00000359933	T	0.10668	2.85	5.65	5.65	0.86999	.	0.319845	0.38217	N	0.001763	T	0.17280	0.0415	M	0.64170	1.965	0.58432	D	0.999997	B	0.12630	0.006	B	0.11329	0.006	T	0.01899	-1.1251	10	0.51188	T	0.08	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1676	Q96BY7	ATG2B_HUMAN	Y	1676	ENSP00000353010:H1676Y	ENSP00000261834:H320Y	H	-	1	0	ATG2B	95839162	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.143000	0.94623	2.824000	0.97209	0.655000	0.94253	CAC	-	NULL		0.343	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	G	NM_018036	-		96769409	-1	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96769409	G	A	96769409	3	1	102	1	0	0	0	0	1	0	0	0	1094	1290	45	2	1250	2	ATG2B	14	96769409	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1206830	96769409	10580131	519	6429											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102482702	102482702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcgatatctggtttatgCcatactctggtccctgtctg	9	10	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:102482702C>T	ENST00000360184.4	+	37	7654	c.7490C>T	c.(7489-7491)gCc>gTc	p.A2497V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2497					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)			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						CTGGTTTATGCCATACTCTGG	0.418																																																	0								ENSG00000197102						56	55	55					14																	102482702		2203	4300	6503	DYNC1H1	SO:0001583	missense	0			-	HGNC	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.7490C>T	14.37:g.102482702C>T	ENSP00000348965:p.Ala2497Val	Somatic	0	58	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.A2497V	ENST00000360184.4	37	c.7490	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493733	0.84962	.	.	ENSG00000197102	ENST00000360184	T	0.18016	2.24	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.72479	2.2	0.80722	D	1	P	0.41313	0.745	B	0.38562	0.276	T	0.05733	-1.0867	10	0.87932	D	0	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	2497	Q14204	DYHC1_HUMAN	V	2497	ENSP00000348965:A2497V	ENSP00000348965:A2497V	A	+	2	0	DYNC1H1	101552455	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.308000	0.78929	2.768000	0.95171	0.561000	0.74099	GCC	-	NULL		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102482702	1	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102482702	C	T	102482702	3	4	102	1	0	0	0	0	1	0	0	0	4843	739	26	2	7636	2	DYNC1H1	14	102482702	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5713293	102482702	4866838	520	6430											
C14orf73	91828	genome.wustl.edu	37	chr14	103568582	103568582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagcaggaccctacggcCttcgcgcggcgcgctatgga	14	13	0	1	rs149486486		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:103568582C>T	ENST00000380069.3	+	2	598	c.522C>T	c.(520-522)gcC>gcT	p.A174A		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	174					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						ACCCTACGGCCTTCGCGCGGC	0.677																																																	0								ENSG00000205436	C		0,4392		0,0,2196	12	13	12		522	4.1	1	14	dbSNP_134	12	1,8587		0,1,4293	no	coding-synonymous	EXOC3L4	NM_001077594.1		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		174/723	103568582	1,12979	2196	4294	6490	EXOC3L4	SO:0001819	synonymous_variant	0			-	HGNC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.522C>T	14.37:g.103568582C>T		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q14CR2	Silent	SNP							pfam_Sec6	p.A174	ENST00000380069.3	37	c.522	CCDS32163.1	14																																																																																			-	NULL		0.677	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	protein_coding	OTTHUMT00000415663.1	C	XM_941093	rs149486486		103568582	1	no_errors	ENST00000380069	ensembl	human	known	74_37	silent	SNP	0.668	T	T	103568582	C	T	103568582	2	4	102	1	0	0	0	0	0	0	0	1	1781	668	24	2		2	C14orf73	14	103568582	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1085880	103568582	3780958	521	6431											
JAG2	3714	genome.wustl.edu	37	chr14	105618337	105618337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggtactggtcaggctcgGcgttgatgcacgtgcctccg	15	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:105618337G>A	ENST00000331782.3	-	7	1380	c.977C>T	c.(976-978)gCc>gTc	p.A326V	JAG2_ENST00000347004.2_Missense_Mutation_p.A326V|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	326	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|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)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTCAGGCTCGGCGTTGATGCA	0.662																																																	0								ENSG00000184916						55	57	57					14																	105618337		2203	4300	6503	JAG2	SO:0001583	missense	0			-	HGNC	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.977C>T	14.37:g.105618337G>A	ENSP00000328169:p.Ala326Val	Somatic	0	202	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	77	19.79	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.A326V	ENST00000331782.3	37	c.977	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125838	0.37533	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;D	0.91464	-0.25;-2.85	3.23	2.32	0.28847	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.272984	0.34460	N	0.003956	T	0.79997	0.4543	N	0.12182	0.205	0.32592	N	0.527065	B;B	0.10296	0.001;0.003	B;B	0.15484	0.008;0.013	T	0.76105	-0.3081	10	0.66056	D	0.02	.	8.1902	0.31363	0.1282:0.0:0.8718:0.0	.	326;326	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	V	326	ENSP00000328169:A326V;ENSP00000328566:A326V	ENSP00000328169:A326V	A	-	2	0	JAG2	104689382	1.000000	0.71417	0.797000	0.32132	0.258000	0.26162	4.606000	0.61126	0.468000	0.27243	0.290000	0.19541	GCC	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	protein_coding	OTTHUMT00000276506.2	G		-		105618337	-1	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	SNP	0.989	A	A	105618337	G	A	105618337	3	1	102	1	0	0	0	0	1	0	0	0	7937	1203	42	2	2819	2	JAG2	14	105618337	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2049755	105618337	1731203	522	6432											
PACS2	23241	genome.wustl.edu	37	chr14	105859167	105859167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgaccgtggtcaccaagGagaagaacaagaagggtgag	14	8	1	5			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:105859167G>A	ENST00000325438.8	+	22	2926	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	PACS2_ENST00000430725.2_Missense_Mutation_p.E733K|PACS2_ENST00000458164.2_Missense_Mutation_p.E823K|PACS2_ENST00000547217.1_Missense_Mutation_p.E778K|PACS2_ENST00000447393.1_Missense_Mutation_p.E812K|PACS2_ENST00000551743.1_Missense_Mutation_p.E322K|PACS2_ENST00000551801.1_Missense_Mutation_p.E9K			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	808					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGTCACCAAGGAGAAGAACAA	0.642																																																	0								ENSG00000179364						46	46	46					14																	105859167		2203	4299	6502	PACS2	SO:0001583	missense	0			-	HGNC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2422G>A	14.37:g.105859167G>A	ENSP00000321834:p.Glu808Lys	Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP							pfam_Phosphofurin_acidic_CS-1	p.E823K	ENST00000325438.8	37	c.2467	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	G	30	5.053650	0.93793	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	M	0.71871	2.18	0.80722	D	1	D;P;D;D	0.89917	1.0;0.845;1.0;0.998	D;P;D;D	0.97110	1.0;0.755;0.999;0.969	T	0.71241	-0.4651	10	0.56958	D	0.05	-31.5372	15.6388	0.76977	0.0:0.0:1.0:0.0	.	812;823;808;809	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	K	733;808;823;812;778;322;9	ENSP00000393524:E733K;ENSP00000321834:E808K;ENSP00000399732:E823K;ENSP00000393559:E812K;ENSP00000449525:E778K;ENSP00000449254:E322K;ENSP00000447544:E9K	ENSP00000321834:E808K	E	+	1	0	PACS2	104930212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.626000	0.98410	2.097000	0.63578	0.462000	0.41574	GAG	-	pfam_Phosphofurin_acidic_CS-1		0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	protein_coding	OTTHUMT00000409209.1	G	XM_377355	-		105859167	1	no_errors	ENST00000458164	ensembl	human	known	74_37	missense	SNP	1.000	A	A	105859167	G	A	105859167	3	1	102	1	0	0	0	0	1	0	0	0	11375	1175	41	2	2520	2	PACS2	14	105859167	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	240830	105859167	1490373	523	6433											
HERC2	8924	genome.wustl.edu	37	chr15	28474893	28474893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaattcagcaattgtaCtgaggagtggagactgcgga	15	6	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:28474893C>T	ENST00000261609.7	-	32	5018	c.4910G>A	c.(4909-4911)aGt>aAt	p.S1637N		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)		AGCAATTGTACTGAGGAGTGG	0.428																																																	0								ENSG00000128731						96	108	104					15																	28474893		2201	4296	6497	HERC2	SO:0001583	missense	0			-	HGNC	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.4910G>A	15.37:g.28474893C>T	ENSP00000261609:p.Ser1637Asn	Somatic	0	152	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	78	23.81		Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.S1637N	ENST00000261609.7	37	c.4910	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	5.593	0.294240	0.10567	.	.	ENSG00000128731	ENST00000261609	T	0.37235	1.21	4.24	3.31	0.37934	.	0.488214	0.23708	N	0.045344	T	0.15435	0.0372	N	0.08118	0	0.25696	N	0.985634	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	10	0.08381	T	0.77	.	8.5961	0.33716	0.0:0.7903:0.0:0.2097	.	1637	O95714	HERC2_HUMAN	N	1637	ENSP00000261609:S1637N	ENSP00000261609:S1637N	S	-	2	0	HERC2	26148488	1.000000	0.71417	0.926000	0.36857	0.859000	0.49053	1.171000	0.31896	0.973000	0.38340	0.555000	0.69702	AGT	-	NULL		0.428	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667	-		28474893	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	0.999	T	T	28474893	C	T	28474893	3	4	102	1	0	0	0	0	1	0	0	0	7060	565	20	2	9842	2	HERC2	15	28474893	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		28474893	74056499	524	6434											
TRPM1	4308	genome.wustl.edu	37	chr15	31294427	31294427	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttttgaacttggcattgCcattccgtcgtcaattgctg	8	10	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:31294427C>T	ENST00000256552.6	-	28	4623	c.4476G>A	c.(4474-4476)tgG>tgA	p.W1492*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.W1470*|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.W1509*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTGGCATTGCCATTCCGTCG	0.493																																																	0								ENSG00000134160						220	199	206					15																	31294427		1998	4182	6180	TRPM1	SO:0001587	stop_gained	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4476G>A	15.37:g.31294427C>T	ENSP00000256552:p.Trp1492*	Somatic	0	61	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Nonsense_Mutation	SNP							pfam_Ion_trans_dom	p.W1509*	ENST00000256552.6	37	c.4527	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	43	9.976367	0.99309	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.79	4.79	0.61399	.	0.737582	0.12511	N	0.462500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.1598	17.8625	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	X	1470;1509;1492;1470	.	ENSP00000256552:W1492X	W	-	3	0	TRPM1	29081719	1.000000	0.71417	0.110000	0.21437	0.034000	0.12701	5.692000	0.68256	2.194000	0.70268	0.563000	0.77884	TGG	-	NULL		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	C	NM_002420	-		31294427	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	31294427	C	T	31294427	4	4	102	1	0	0	0	0	0	1	0	0	16592	740	26	2	405	2	TRPM1	15	31294427	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2819534	31294427	71236965	525	6435											
TRPM1	4308	genome.wustl.edu	37	chr15	31294646	31294646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccactgttagctgagtGttttgaacatctgatttgtc	9	7	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:31294646G>A	ENST00000256552.6	-	28	4404	c.4257C>T	c.(4255-4257)aaC>aaT	p.N1419N	TRPM1_ENST00000397795.2_Silent_p.N1397N|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.N1436N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTAGCTGAGTGTTTTGAACAT	0.368																																																	0								ENSG00000134160						176	164	168					15																	31294646		1879	4112	5991	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4257C>T	15.37:g.31294646G>A		Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	22.73		Silent	SNP							pfam_Ion_trans_dom	p.N1436	ENST00000256552.6	37	c.4308	CCDS58346.1	15																																																																																			-	NULL		0.368	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31294646	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.720	A	A	31294646	G	A	31294646	2	1	102	1	0	0	0	0	0	0	0	1	16592	1368	48	2		2	TRPM1	15	31294646	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	219	31294646	71236746	526	6436											
TRPM1	4308	genome.wustl.edu	37	chr15	31319224	31319224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaatgatcatcggtggGggcaggactggcctgtcatg	14	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:31319224G>A	ENST00000256552.6	-	26	3537	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.P1108P|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.P1147P	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATCGGTGGGGGCAGGACTG	0.468																																																	0								ENSG00000134160						111	108	109					15																	31319224		1938	4167	6105	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3390C>T	15.37:g.31319224G>A		Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92		Silent	SNP							pfam_Ion_trans_dom	p.P1147	ENST00000256552.6	37	c.3441	CCDS58346.1	15																																																																																			-	NULL		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31319224	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.776	A	A	31319224	G	A	31319224	2	1	102	1	0	0	0	0	0	0	0	1	16592	1219	43	2		2	TRPM1	15	31319224	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	24578	31319224	71212168	527	6437											
AQR	9716	genome.wustl.edu	37	chr15	35166194	35166194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgccagttgtagaggttGcacaagctttccaaagacaa	9	9	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:35166194G>A	ENST00000156471.5	-	30	3657	c.3432C>T	c.(3430-3432)tgC>tgT	p.C1144C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1144					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGTAGAGGTTGCACAAGCTTT	0.398																																																	0								ENSG00000021776						69	63	65					15																	35166194		1837	4083	5920	AQR	SO:0001819	synonymous_variant	0			-	HGNC	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3432C>T	15.37:g.35166194G>A		Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP							superfamily_P-loop_NTPase	p.C1144	ENST00000156471.5	37	c.3432	CCDS42013.1	15																																																																																			-	superfamily_P-loop_NTPase		0.398	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	protein_coding	OTTHUMT00000417526.2	G	NM_014691	-		35166194	-1	no_errors	ENST00000156471	ensembl	human	known	74_37	silent	SNP	0.999	A	A	35166194	G	A	35166194	2	1	102	1	0	0	0	0	0	0	0	1	835	1311	46	2		2	AQR	15	35166194	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3846970	35166194	67365198	528	6438											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40289171	40289171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcttccccctcagaaagtgGatctcttcagcctgggaatt	8	12	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:40289171G>T	ENST00000263791.5	+	19	2816	c.2773G>T	c.(2773-2775)Gat>Tat	p.D925Y	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D897Y	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	925	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCAGAAAGTGGATCTCTTCAG	0.393																																																	0								ENSG00000128829						182	167	171					15																	40289171		1832	4092	5924	EIF2AK4	SO:0001583	missense	0			-	HGNC	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2773G>T	15.37:g.40289171G>T	ENSP00000263791:p.Asp925Tyr	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.D925Y	ENST00000263791.5	37	c.2773	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804537	0.90623	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.75704	-0.96;-0.96	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94901	0.8056	10	0.87932	D	0	-25.4005	20.4169	0.99027	0.0:0.0:1.0:0.0	.	925	Q9P2K8	E2AK4_HUMAN	Y	925;897	ENSP00000263791:D925Y;ENSP00000372174:D897Y	ENSP00000263791:D925Y	D	+	1	0	EIF2AK4	38076463	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.327000	0.96396	2.838000	0.97847	0.579000	0.79373	GAT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom		0.393	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	protein_coding	OTTHUMT00000418395.1	G		-		40289171	1	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40289171	G	T	40289171	3	4	102	1	0	0	0	0	1	0	0	0	5001	1174	41	3	2847	3	EIF2AK4	15	40289171	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5122977	40289171	62242221	529	6439											
ZFYVE19	84936	genome.wustl.edu	37	chr15	41105991	41105991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaccctggacgcaaccCcgcggggcagagcctgaggt	14	15	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:41105991C>T	ENST00000355341.4	+	9	1692	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	ZFYVE19_ENST00000564258.1_Silent_p.P222P|ZFYVE19_ENST00000299173.10_Silent_p.P329P|ZFYVE19_ENST00000336455.5_Silent_p.P387P|ZFYVE19_ENST00000570108.1_Silent_p.P374P	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	397					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGACGCAACCCCGCGGGGCAG	0.622																																																	0								ENSG00000166140						46	51	49					15																	41105991		1965	4145	6110	ZFYVE19	SO:0001819	synonymous_variant	0			-	HGNC	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1191C>T	15.37:g.41105991C>T		Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P397	ENST00000355341.4	37	c.1191	CCDS42025.1	15																																																																																			-	superfamily_Znf_FYVE_PHD		0.622	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	protein_coding	OTTHUMT00000418996.1	C	NM_032850	-		41105991	1	no_errors	ENST00000355341	ensembl	human	known	74_37	silent	SNP	0.033	T	T	41105991	C	T	41105991	2	4	102	1	0	0	0	0	0	0	0	1	17672	610	22	2		2	ZFYVE19	15	41105991	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	816820	41105991	61425401	530	6440											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42092030	42092030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctctaacaggtgaccttgGagaaggtgctgggaattaca	12	8	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:42092030G>A	ENST00000456763.2	+	3	320	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E42K|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E42K|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E42K|MAPKBP1_ENST00000507762.1_3'UTR	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	42										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)		GGTGACCTTGGAGAAGGTGCT	0.522																																																	0								ENSG00000137802						147	123	131					15																	42092030		2203	4300	6503	MAPKBP1	SO:0001583	missense	0			-	HGNC	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.124G>A	15.37:g.42092030G>A	ENSP00000393099:p.Glu42Lys	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E42K	ENST00000456763.2	37	c.124	CCDS45239.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.2|25.2	4.615646|4.615646	0.87359|0.87359	.|.	.|.	ENSG00000137802|ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535|ENST00000507762	T;T;T;T;T|.	0.60672|.	0.88;1.19;0.94;1.08;0.17|.	4.93|4.93	4.93|4.93	0.64822|0.64822	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61426|0.61426	0.2346|0.2346	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.994|.	D;D;P|.	0.91635|.	0.999;0.982;0.902|.	T|T	0.56727|0.56727	-0.7931|-0.7931	10|5	0.22109|.	T|.	0.4|.	-24.4932|-24.4932	15.5354|15.5354	0.75998|0.75998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	42;42;42|.	O60336-2;O60336;O60336-6|.	.;MABP1_HUMAN;.|.	K|E	42|22	ENSP00000397570:E42K;ENSP00000221214:E42K;ENSP00000393099:E42K;ENSP00000426154:E42K;ENSP00000422132:E42K|.	ENSP00000221214:E42K|.	E|G	+|+	1|2	0|0	MAPKBP1|MAPKBP1	39879322|39879322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.938000|7.938000	0.87678|0.87678	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	superfamily_WD40_repeat_dom		0.522	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	protein_coding	OTTHUMT00000359745.1	G	NM_014994	-		42092030	1	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42092030	G	A	42092030	3	1	102	1	0	0	0	0	1	0	0	0	9294	1175	41	2	130	2	MAPKBP1	15	42092030	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	986039	42092030	60439362	531	6441											
MFAP1	4236	genome.wustl.edu	37	chr15	44102103	44102103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttcaatttctgctttctcCttctcaagcctgtccaggga	7	13	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:44102103C>T	ENST00000267812.3	-	7	1129	c.897G>A	c.(895-897)aaG>aaA	p.K299K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	299					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGCTTTCTCCTTCTCAAGCC	0.423																																																	0								ENSG00000140259						197	176	184					15																	44102103		2198	4298	6496	MFAP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.897G>A	15.37:g.44102103C>T		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q86TG6	Silent	SNP							pfam_MFAP1_C	p.K299	ENST00000267812.3	37	c.897	CCDS10105.1	15																																																																																			-	pfam_MFAP1_C		0.423	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	protein_coding	OTTHUMT00000133491.2	C	NM_005926	-		44102103	-1	no_errors	ENST00000267812	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44102103	C	T	44102103	2	4	102	1	0	0	0	0	0	0	0	1	9515	680	24	2		2	MFAP1	15	44102103	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2010073	44102103	58429289	532	6442											
DUOX1	53905	genome.wustl.edu	37	chr15	45427811	45427811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgagactcgcagaaccCcctgctcatgtgggcggcgc	12	17	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:45427811C>T	ENST00000321429.4	+	7	1042	c.635C>T	c.(634-636)cCc>cTc	p.P212L	DUOX1_ENST00000389037.3_Missense_Mutation_p.P212L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	212	Peroxidase-like; mediates peroxidase activity.				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)		TCGCAGAACCCCCTGCTCATG	0.736																																																	0								ENSG00000137857						5	5	5					15																	45427811		2016	4004	6020	DUOX1	SO:0001583	missense	0			-	HGNC	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.635C>T	15.37:g.45427811C>T	ENSP00000317997:p.Pro212Leu	Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.P212L	ENST00000321429.4	37	c.635	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	.	8.507	0.865700	0.17250	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.69926	-0.44;-0.44	3.91	2.99	0.34606	.	0.938464	0.09063	N	0.853961	T	0.60971	0.2310	N	0.25890	0.77	0.09310	N	1	B	0.23316	0.083	B	0.36186	0.219	T	0.54077	-0.8347	10	0.29301	T	0.29	-3.692	13.5815	0.61905	0.1582:0.8418:0.0:0.0	.	212	Q9NRD9	DUOX1_HUMAN	L	212	ENSP00000317997:P212L;ENSP00000373689:P212L	ENSP00000317997:P212L	P	+	2	0	DUOX1	43215103	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.276000	0.18716	0.417000	0.25871	-2.157000	0.00329	CCC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.736	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	C	NM_017434	-		45427811	1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	SNP	0.000	T	T	45427811	C	T	45427811	3	4	102	1	0	0	0	0	1	0	0	0	4802	623	22	2	653	2	DUOX1	15	45427811	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1325708	45427811	57103581	533	6443											
SLC28A2	9153	genome.wustl.edu	37	chr15	45559941	45559941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaaagctagcgtatccGgaagtggaggagtccaagtt	12	8	2	0	rs139537844	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:45559941G>A	ENST00000347644.3	+	12	1211	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	382					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TAGCGTATCCGGAAGTGGAGG	0.547													g|||	2	0.000399361	0	0.0029	5008	,	,		20006	0		0	False		,,,				2504	0				NSCLC(92;493 1501 26361 28917 47116)												0								ENSG00000137860	A		2,4394	4.2+/-10.8	0,2,2196	141	144	143		1146	-0.7	1	15	dbSNP_134	143	0,8596		0,0,4298	no	coding-synonymous	SLC28A2	NM_004212.3		0,2,6494	AA,AG,GG		0.0,0.0455,0.0154		382/659	45559941	2,12990	2198	4298	6496	SLC28A2	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1146G>A	15.37:g.45559941G>A		Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A8K7F9|O43239|Q52LZ0	Silent	SNP							pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.P382	ENST00000347644.3	37	c.1146	CCDS10121.1	15																																																																																			-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.547	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A2	protein_coding	OTTHUMT00000254219.2	G	NM_004212	rs139537844		45559941	1	no_errors	ENST00000347644	ensembl	human	known	74_37	silent	SNP	0.976	A	A	45559941	G	A	45559941	2	1	102	1	0	0	0	0	0	0	0	1	14540	1103	39	1		1	SLC28A2	15	45559941	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	132130	45559941	56971451	534	6444											
COPS2	9318	genome.wustl.edu	37	chr15	49431802	49431802	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgactgcactccgaaTataggtcaatagctgcttat	8	9	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:49431802T>A	ENST00000388901.5	-	4	368	c.295A>T	c.(295-297)Att>Ttt	p.I99F	COPS2_ENST00000542928.1_Missense_Mutation_p.I35F|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.I99F	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	99					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)		GCACTCCGAATATAGGTCAAT	0.299																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												0								ENSG00000166200						75	80	78					15																	49431802		2196	4288	6484	COPS2	SO:0001583	missense	0			-	HGNC	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.295A>T	15.37:g.49431802T>A	ENSP00000373553:p.Ile99Phe	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP							pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.I99F	ENST00000388901.5	37	c.295	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778921	0.90195	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.34	4.17	0.49024	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.91459	3.21	0.80722	D	1	P;D;D	0.52996	0.913;0.957;0.957	P;P;P	0.55222	0.729;0.771;0.729	T	0.81609	-0.0855	9	0.51188	T	0.08	0.7304	11.6596	0.51339	0.1323:0.0:0.0:0.8677	.	35;100;99	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	F	99;99;35	.	ENSP00000299259:I99F	I	-	1	0	COPS2	47219094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.015000	0.59207	0.533000	0.62120	ATT	-	NULL		0.299	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	protein_coding	OTTHUMT00000417840.1	T	NM_004236	-		49431802	-1	no_errors	ENST00000299259	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49431802	T	A	49431802	3	1	102	1	0	0	0	0	1	0	0	0	3735	1406	49	5	1097	5	COPS2	15	49431802	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	3871861	49431802	53099590	535	6445											
MAPK6	5597	genome.wustl.edu	37	chr15	52356868	52356868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataaatcagttttgtgagGtaaggaaggatgaacaagtt	11	3	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:52356868G>A	ENST00000261845.5	+	6	2644	c.1837G>A	c.(1837-1839)Gta>Ata	p.V613I	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	613					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTGTGAGGTAAGGAAGGA	0.418																																																	0								ENSG00000069956						83	81	82					15																	52356868		2195	4293	6488	MAPK6	SO:0001583	missense	0			-	HGNC	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1837G>A	15.37:g.52356868G>A	ENSP00000261845:p.Val613Ile	Somatic	0	86	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.V613I	ENST00000261845.5	37	c.1837	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235797	0.22626	.	.	ENSG00000069956	ENST00000261845	T	0.71222	-0.55	5.27	5.27	0.74061	.	0.166042	0.53938	D	0.000053	T	0.60612	0.2282	N	0.24115	0.695	0.46356	D	0.999003	B	0.06786	0.001	B	0.06405	0.002	T	0.54833	-0.8234	10	0.40728	T	0.16	-13.8859	19.0679	0.93119	0.0:0.0:1.0:0.0	.	613	Q16659	MK06_HUMAN	I	613	ENSP00000261845:V613I	ENSP00000261845:V613I	V	+	1	0	MAPK6	50144160	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.669000	0.68081	2.537000	0.85549	0.543000	0.68304	GTA	-	NULL		0.418	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	protein_coding	OTTHUMT00000254841.2	G	NM_002748	-		52356868	1	no_errors	ENST00000261845	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52356868	G	A	52356868	3	1	102	1	0	0	0	0	1	0	0	0	9283	1261	44	2	1855	2	MAPK6	15	52356868	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2925066	52356868	50174524	536	6446											
MYO5C	55930	genome.wustl.edu	37	chr15	52517672	52517672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgactgcacatgtttctCcacatctatcttctgtgcct	6	12	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:52517672C>T	ENST00000261839.7	-	26	3426	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1089						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACATGTTTCTCCACATCTATC	0.398																																																	0								ENSG00000128833						255	229	237					15																	52517672		1897	4122	6019	MYO5C	SO:0001583	missense	0			-	HGNC	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3265G>A	15.37:g.52517672C>T	ENSP00000261839:p.Glu1089Lys	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q6P1W8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1089K	ENST00000261839.7	37	c.3265	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942059	0.92526	.	.	ENSG00000128833	ENST00000261839	T	0.15487	2.42	5.83	5.83	0.93111	.	0.059335	0.64402	D	0.000003	T	0.15003	0.0362	N	0.19112	0.55	0.80722	D	1	B	0.28378	0.209	B	0.29176	0.099	T	0.07597	-1.0764	10	0.33940	T	0.23	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1089	Q9NQX4	MYO5C_HUMAN	K	1089	ENSP00000261839:E1089K	ENSP00000261839:E1089K	E	-	1	0	MYO5C	50304964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.599000	0.67592	2.770000	0.95276	0.655000	0.94253	GAG	-	NULL		0.398	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	protein_coding	OTTHUMT00000419562.1	C	NM_018728	-		52517672	-1	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52517672	C	T	52517672	3	4	102	1	0	0	0	0	1	0	0	0	10082	864	30	2	2027	2	MYO5C	15	52517672	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	160804	52517672	50013720	537	6447											
WDR72	256764	genome.wustl.edu	37	chr15	53809908	53809908	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattccatttaagacaccttGcaggggcagacctttgctat	9	10	0	2	rs141490508		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:53809908G>T	ENST00000396328.1	-	20	3536	c.3297C>A	c.(3295-3297)tgC>tgA	p.C1099*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1096*|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1099*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1109*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1099										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGACACCTTGCAGGGGCAGA	0.363																																																	0								ENSG00000166415						137	128	131					15																	53809908		2194	4293	6487	WDR72	SO:0001587	stop_gained	0			-	HGNC	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3297C>A	15.37:g.53809908G>T	ENSP00000379619:p.Cys1099*	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C1099*	ENST00000396328.1	37	c.3297	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.507653	0.98325	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.85	2.54	0.30619	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.32111	N	0.589329	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5051	0.39042	0.3119:0.0:0.6881:0.0	.	.	.	.	X	1099	.	ENSP00000353699:C1099X	C	-	3	2	WDR72	51597200	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.129000	0.31381	0.823000	0.34589	0.585000	0.79938	TGC	-	NULL		0.363	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	protein_coding	OTTHUMT00000254893.2	G	NM_182758	-		53809908	-1	no_errors	ENST00000360509	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	53809908	G	T	53809908	4	4	102	1	0	0	0	0	0	1	0	0	17329	1311	46	3	15	3	WDR72	15	53809908	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1292236	53809908	48721484	538	6448											
RNF111	54778	genome.wustl.edu	37	chr15	59323147	59323147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttttgcatccagagccCattggggcagccaaaagttt	9	11	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:59323147C>T	ENST00000557998.1	+	2	413	c.126C>T	c.(124-126)ccC>ccT	p.P42P	RNF111_ENST00000434298.1_Silent_p.P42P|RNF111_ENST00000559209.1_Silent_p.P42P|RNF111_ENST00000561186.1_Silent_p.P42P|RNF111_ENST00000348370.4_Silent_p.P42P	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	42					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)			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)		ATCCAGAGCCCATTGGGGCAG	0.438																																					NSCLC(72;983 1365 10746 34387 47081)												0								ENSG00000157450						68	69	69					15																	59323147		2192	4292	6484	RNF111	SO:0001819	synonymous_variant	0			-	HGNC	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.126C>T	15.37:g.59323147C>T		Somatic	0	51	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P42	ENST00000557998.1	37	c.126	CCDS58366.1	15																																																																																			-	NULL		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	protein_coding	OTTHUMT00000416012.1	C	NM_017610	-		59323147	1	no_errors	ENST00000434298	ensembl	human	known	74_37	silent	SNP	1.000	T	T	59323147	C	T	59323147	2	4	102	1	0	0	0	0	0	0	0	1	13433	581	21	2		2	RNF111	15	59323147	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5513239	59323147	43208245	539	6449											
TLN2	83660	genome.wustl.edu	37	chr15	62994352	62994352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgccaggaccctcgctGgggcggtgtcagacttgctg	16	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:62994352G>A	ENST00000561311.1	+	17	2088	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	TLN2_ENST00000306829.6_Missense_Mutation_p.G620R			Q9Y4G6	TLN2_HUMAN	talin 2	620					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACCCTCGCTGGGGCGGTGTC	0.587																																																	0								ENSG00000171914						56	51	52					15																	62994352		2203	4300	6503	TLN2	SO:0001583	missense	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1858G>A	15.37:g.62994352G>A	ENSP00000453508:p.Gly620Arg	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	A6NLB8	Missense_Mutation	SNP							pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G620R	ENST00000561311.1	37	c.1858	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672678	0.88445	.	.	ENSG00000171914	ENST00000306829	T	0.69175	-0.38	5.41	5.41	0.78517	Talin, central (3);	0.091627	0.85682	D	0.000000	T	0.76593	0.4009	L	0.54323	1.7	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	T	0.75906	-0.3152	10	0.48119	T	0.1	-23.9728	13.3228	0.60442	0.0824:0.0:0.9176:0.0	.	620	Q9Y4G6	TLN2_HUMAN	R	620	ENSP00000303476:G620R	ENSP00000303476:G620R	G	+	1	0	TLN2	60781644	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.499000	0.81566	2.698000	0.92095	0.561000	0.74099	GGG	-	pfam_Talin_cent,pfam_ILWEQ_dom,superfamily_Talin_cent		0.587	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G		-		62994352	1	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62994352	G	A	62994352	3	1	102	1	0	0	0	0	1	0	0	0	15955	1348	47	2	1916	2	TLN2	15	62994352	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3671205	62994352	39537040	540	6450											
HERC1	8925	genome.wustl.edu	37	chr15	63955209	63955209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaatccagtacctctgGgatccacattcccagaatat	7	13	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:63955209G>A	ENST00000443617.2	-	44	8962	c.8875C>T	c.(8875-8877)Cca>Tca	p.P2959S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2959					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)			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						AGTACCTCTGGGATCCACATT	0.473																																																	0								ENSG00000103657						87	88	87					15																	63955209		2110	4242	6352	HERC1	SO:0001583	missense	0			-	HGNC	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.8875C>T	15.37:g.63955209G>A	ENSP00000390158:p.Pro2959Ser	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q8IW65	Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P2959S	ENST00000443617.2	37	c.8875	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871761	0.91587	.	.	ENSG00000103657	ENST00000443617	T	0.25250	1.81	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.29610	-1.0006	10	0.66056	D	0.02	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	2959	Q15751	HERC1_HUMAN	S	2959	ENSP00000390158:P2959S	ENSP00000390158:P2959S	P	-	1	0	HERC1	61742262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.801000	0.96364	0.650000	0.86243	CCA	-	NULL		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	G	NM_003922	-		63955209	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	SNP	1.000	A	A	63955209	G	A	63955209	3	1	102	1	0	0	0	0	1	0	0	0	7059	1232	43	2	5850	2	HERC1	15	63955209	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	960857	63955209	38576183	541	6451											
ZNF609	23060	genome.wustl.edu	37	chr15	64966588	64966588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaagcacatcaatggacTtaagtaccaccaagctcatg	7	11	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:64966588T>C	ENST00000326648.3	+	4	1663	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	512						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCAATGGACTTAAGTACCAC	0.507																																																	0								ENSG00000180357						132	99	110					15																	64966588		2203	4299	6502	ZNF609	SO:0001583	missense	0			-	HGNC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1535T>C	15.37:g.64966588T>C	ENSP00000316527:p.Leu512Pro	Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q0D2I2	Missense_Mutation	SNP							pfscan_Znf_C2H2	p.L512P	ENST00000326648.3	37	c.1535	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476238	0.63737	.	.	ENSG00000180357	ENST00000326648	T	0.76316	-1.01	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90503	0.4475	10	0.87932	D	0	-6.1828	15.8317	0.78757	0.0:0.0:0.0:1.0	.	512	O15014	ZN609_HUMAN	P	512	ENSP00000316527:L512P	ENSP00000316527:L512P	L	+	2	0	ZNF609	62753641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.136000	0.66102	0.533000	0.62120	CTT	-	pfscan_Znf_C2H2		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	protein_coding	OTTHUMT00000418130.1	T	XM_042833	-		64966588	1	no_errors	ENST00000326648	ensembl	human	known	74_37	missense	SNP	1.000	C	C	64966588	T	C	64966588	3	2	102	1	0	0	0	0	1	0	0	0	18042	1609	56	5	1549	5	ZNF609	15	64966588	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1011379	64966588	37564804	542	6452											
DENND4A	10260	genome.wustl.edu	37	chr15	66030231	66030231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagtctctgcttttctGtgagattctcctcagagtat	8	8	4	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:66030231G>A	ENST00000431932.2	-	7	1062	c.854C>T	c.(853-855)aCa>aTa	p.T285I	DENND4A_ENST00000443035.3_Missense_Mutation_p.T285I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	285					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGCTTTTCTGTGAGATTCTC	0.348																																																	0								ENSG00000174485						50	45	47					15																	66030231		1832	4088	5920	DENND4A	SO:0001583	missense	0			-	HGNC	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.854C>T	15.37:g.66030231G>A	ENSP00000396830:p.Thr285Ile	Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.T285I	ENST00000431932.2	37	c.854	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804452	0.90623	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05925	3.37;3.4	5.29	5.29	0.74685	.	0.151917	0.64402	D	0.000019	T	0.22322	0.0538	M	0.68593	2.085	0.80722	D	1	P;D;D	0.69078	0.834;0.997;0.997	B;P;P	0.60117	0.288;0.869;0.761	T	0.00137	-1.2004	10	0.72032	D	0.01	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	285;285;285	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	I	285	ENSP00000391167:T285I;ENSP00000396830:T285I	ENSP00000396830:T285I	T	-	2	0	DENND4A	63817285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.646000	0.89796	0.591000	0.81541	ACA	-	NULL		0.348	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	protein_coding	OTTHUMT00000419611.1	G	NM_005848	-		66030231	-1	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66030231	G	A	66030231	3	1	102	1	0	0	0	0	1	0	0	0	4435	1377	48	2	4974	2	DENND4A	15	66030231	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1063643	66030231	36501161	543	6453											
CYP1A2	1544	genome.wustl.edu	37	chr15	75045534	75045534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcctcagcacaacaagGgacacaacgctgaatggctt	8	14	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:75045534G>A	ENST00000343932.4	+	6	1239	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	392					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GCACAACAAGGGACACAACGC	0.557																																																	0								ENSG00000140505						170	108	129					15																	75045534		2197	4296	6493	CYP1A2	SO:0001819	synonymous_variant	0			-	HGNC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1176G>A	15.37:g.75045534G>A		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R392	ENST00000343932.4	37	c.1176	CCDS32293.1	15																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.557	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	G	NM_000761	-		75045534	1	no_errors	ENST00000343932	ensembl	human	known	74_37	silent	SNP	0.471	A	A	75045534	G	A	75045534	2	1	102	1	0	0	0	0	0	0	0	1	4152	1223	43	2		2	CYP1A2	15	75045534	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9015303	75045534	27485858	544	6454											
GOLGA6D	653643	genome.wustl.edu	37	chr15	75585481	75585481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgccaaacatcccagaGgacctggagagccgggaggc	13	15	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:75585481G>A	ENST00000434739.3	+	14	1610	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	523						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						ACATCCCAGAGGACCTGGAGA	0.627																																																	0								ENSG00000140478						1	1	1					15																	75585481		29	347	376	GOLGA6D	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1569G>A	15.37:g.75585481G>A		Somatic	0	97	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20		Silent	SNP							NULL	p.E523	ENST00000434739.3	37	c.1569	CCDS45308.1	15																																																																																			-	NULL		0.627	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	protein_coding	OTTHUMT00000419798.1	G	NM_001145224	-		75585481	1	no_errors	ENST00000434739	ensembl	human	known	74_37	silent	SNP	0.998	A	A	75585481	G	A	75585481	2	1	102	1	0	0	0	0	0	0	0	1	6562	991	35	2		2	GOLGA6D	15	75585481	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	539947	75585481	26945911	545	6455											
SGK269	79834	genome.wustl.edu	37	chr15	77407240	77407240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaagaccagagcatAgctgtaagagcagcagacac	12	10	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:77407240A>G	ENST00000560626.2	-	7	4974	c.4499T>C	c.(4498-4500)cTa>cCa	p.L1500P	PEAK1_ENST00000312493.4_Missense_Mutation_p.L1500P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACCAGAGCATAGCTGTAAGAG	0.537																																																	0								ENSG00000173517						61	64	63					15																	77407240		2064	4204	6268	PEAK1	SO:0001583	missense	0			-	HGNC		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4499T>C	15.37:g.77407240A>G	ENSP00000452796:p.Leu1500Pro	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.L1500P	ENST00000560626.2	37	c.4499	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881122	0.72294	.	.	ENSG00000173517	ENST00000312493	T	0.78481	-1.18	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	U	0.000029	D	0.90741	0.7094	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93159	0.6556	10	0.87932	D	0	-6.2643	14.7608	0.69604	1.0:0.0:0.0:0.0	.	1500	Q9H792	PEAK1_HUMAN	P	1500	ENSP00000309230:L1500P	ENSP00000309230:L1500P	L	-	2	0	AC087465.1	75194295	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.339000	0.96797	1.911000	0.55334	0.459000	0.35465	CTA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.537	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	protein_coding	OTTHUMT00000419483.3	A		-		77407240	-1	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77407240	A	G	77407240	3	3	102	1	0	0	0	0	1	0	0	0	14219	420	15	5	745	5	SGK269	15	77407240	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	1821759	77407240	25124152	546	6456											
TMC3	342125	genome.wustl.edu	37	chr15	81654619	81654619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaccacaaagttacaggcGagacgagcaaatttccgcca	9	11	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:81654619G>A	ENST00000359440.5	-	4	471	c.336C>T	c.(334-336)ctC>ctT	p.L112L	TMC3_ENST00000558726.1_Silent_p.L112L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGTTACAGGCGAGACGAGCAA	0.468																																																	0								ENSG00000188869						75	72	73					15																	81654619		2001	4174	6175	TMC3	SO:0001819	synonymous_variant	0			-	HGNC	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.336C>T	15.37:g.81654619G>A		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30		Silent	SNP							pfam_TMC	p.L112	ENST00000359440.5	37	c.336	CCDS45324.1	15																																																																																			-	NULL		0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	protein_coding	OTTHUMT00000417795.3	G	NM_181841	-		81654619	-1	no_errors	ENST00000359440	ensembl	human	known	74_37	silent	SNP	0.009	A	A	81654619	G	A	81654619	2	1	102	1	0	0	0	0	0	0	0	1	15993	1045	37	1		1	TMC3	15	81654619	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4247379	81654619	20876773	547	6457											
AP3B2	8120	genome.wustl.edu	37	chr15	83345378	83345378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacaggatgctggctcgGgccatgggcacctgtggttg	16	11	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:83345378G>A	ENST00000261722.3	-	14	1707	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.A468A|AP3B2_ENST00000535359.1_Silent_p.A500A	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	500					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCTGGCTCGGGCCATGGGCA	0.532																																																	0								ENSG00000103723						52	50	51					15																	83345378		1935	4142	6077	AP3B2	SO:0001819	synonymous_variant	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1500C>T	15.37:g.83345378G>A		Somatic	0	51	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.A500	ENST00000261722.3	37	c.1500	CCDS45331.1	15																																																																																			-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.532	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	G		-		83345378	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	silent	SNP	0.977	A	A	83345378	G	A	83345378	2	1	102	1	0	0	0	0	0	0	0	1	745	1219	43	2		2	AP3B2	15	83345378	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1690759	83345378	19186014	548	6458											
ACAN	176	genome.wustl.edu	37	chr15	89398803	89398803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggacatcagcgggcttcCttctggagaagttctagaga	13	8	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:89398803C>T	ENST00000561243.1	+	11	2987	c.2987C>T	c.(2986-2988)cCt>cTt	p.P996L	ACAN_ENST00000559004.1_Missense_Mutation_p.P996L|ACAN_ENST00000352105.7_Missense_Mutation_p.P996L|ACAN_ENST00000439576.2_Missense_Mutation_p.P996L			P16112	PGCA_HUMAN	aggrecan	995	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				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)			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)			AGCGGGCTTCCTTCTGGAGAA	0.562																																																	0								ENSG00000157766						27	25	25					15																	89398803		1302	3227	4529	ACAN	SO:0001583	missense	0			-	HGNC	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.2987C>T	15.37:g.89398803C>T	ENSP00000453342:p.Pro996Leu	Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P996L	ENST00000561243.1	37	c.2987	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430598	0.43122	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96651	-4.08;-4.08	4.25	4.25	0.50352	.	.	.	.	.	D	0.97829	0.9287	M	0.81942	2.565	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98397	1.0566	9	0.87932	D	0	-13.0489	13.6793	0.62474	0.0:1.0:0.0:0.0	.	996;996	E7ENV9;E7EX88	.;.	L	996	ENSP00000387356:P996L;ENSP00000341615:P996L	ENSP00000268134:P996L	P	+	2	0	ACAN	87199807	0.024000	0.19004	0.997000	0.53966	0.075000	0.17131	1.618000	0.36954	2.219000	0.72066	0.501000	0.49751	CCT	-	NULL		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135	-		89398803	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89398803	C	T	89398803	3	4	102	1	0	0	0	0	1	0	0	0	117	681	24	2	3029	2	ACAN	15	89398803	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6053425	89398803	13132589	549	6459											
ACAN	176	genome.wustl.edu	37	chr15	89400698	89400698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaagtggtcttccctctGgatttagtggtgagtattct	10	7	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:89400698G>A	ENST00000561243.1	+	11	4882	c.4882G>A	c.(4882-4884)Gga>Aga	p.G1628R	ACAN_ENST00000559004.1_Missense_Mutation_p.G1628R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1628R|ACAN_ENST00000439576.2_Missense_Mutation_p.G1628R			P16112	PGCA_HUMAN	aggrecan	1660	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)			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)			TCTTCCCTCTGGATTTAGTGG	0.532																																																	0								ENSG00000157766						137	142	141					15																	89400698		1917	4129	6046	ACAN	SO:0001583	missense	0			-	HGNC	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.4882G>A	15.37:g.89400698G>A	ENSP00000453342:p.Gly1628Arg	Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G1628R	ENST00000561243.1	37	c.4882	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025963	0.54683	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.21031	2.35;2.03	5.52	5.52	0.82312	.	0.269330	0.19891	N	0.103723	T	0.52837	0.1759	M	0.83223	2.63	0.36452	D	0.866146	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63550	-0.6612	10	0.87932	D	0	-11.0404	18.4332	0.90634	0.0:0.0:1.0:0.0	.	1628;1628	E7ENV9;E7EX88	.;.	R	1628;1628;1514	ENSP00000387356:G1628R;ENSP00000341615:G1628R	ENSP00000268134:G1514R	G	+	1	0	ACAN	87201702	1.000000	0.71417	0.992000	0.48379	0.397000	0.30659	4.912000	0.63335	2.612000	0.88384	0.655000	0.94253	GGA	-	NULL		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	G	NM_001135	-		89400698	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89400698	G	A	89400698	3	1	102	1	0	0	0	0	1	0	0	0	117	1349	47	2	4924	2	ACAN	15	89400698	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1895	89400698	13130694	550	6460											
KIF7	374654	genome.wustl.edu	37	chr15	90188623	90188623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagctctgggcccttcCtctctggcagactccctggg	12	15	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:90188623C>T	ENST00000394412.3	-	9	2058	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	661	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGGCCCTTCCTCTCTGGCAG	0.637																																																	0								ENSG00000166813						95	78	84					15																	90188623		2200	4299	6499	KIF7	SO:0001583	missense	0			-	HGNC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1982G>A	15.37:g.90188623C>T	ENSP00000377934:p.Arg661Lys	Somatic	1	109	0.91		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R661K	ENST00000394412.3	37	c.1982	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	c	6.098	0.386384	0.11524	.	.	ENSG00000166813	ENST00000394412	T	0.69561	-0.41	4.38	1.04	0.20106	.	0.954097	0.08809	N	0.890553	T	0.51839	0.1698	L	0.47716	1.5	0.09310	N	1	B;B	0.23806	0.091;0.067	B;B	0.24541	0.054;0.012	T	0.39210	-0.9625	10	0.07175	T	0.84	.	5.5471	0.17069	0.0:0.4844:0.4009:0.1147	.	148;661	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	661	ENSP00000377934:R661K	ENSP00000377934:R661K	R	-	2	0	KIF7	87989627	0.002000	0.14202	0.765000	0.31456	0.067000	0.16453	-0.245000	0.08890	0.910000	0.36722	0.454000	0.30748	AGG	-	NULL		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	protein_coding	OTTHUMT00000347782.1	C	NM_198525	-		90188623	-1	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	SNP	0.039	T	T	90188623	C	T	90188623	3	4	102	1	0	0	0	0	1	0	0	0	8311	681	24	2	2093	2	KIF7	15	90188623	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	787925	90188623	12342769	551	6461											
UNC45A	55898	genome.wustl.edu	37	chr15	91479208	91479208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagaaacagaggcatcCaaaggtaggggaatggtggg	16	5	0	2	rs540905465	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:91479208C>T	ENST00000418476.2	+	3	286	c.246C>T	c.(244-246)tcC>tcT	p.S82S	AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Silent_p.S67S|AC068831.3_ENST00000438890.1_RNA|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	82					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGAGGCATCCAAAGGTAGGG	0.567																																																	0								ENSG00000140553						156	131	140					15																	91479208		2198	4298	6496	UNC45A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.246C>T	15.37:g.91479208C>T		Somatic	0	22	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP							pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S82	ENST00000418476.2	37	c.246	CCDS10367.1	15																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.567	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	protein_coding	OTTHUMT00000280406.2	C	NM_018671	-		91479208	1	no_errors	ENST00000418476	ensembl	human	known	74_37	silent	SNP	0.946	T	T	91479208	C	T	91479208	2	4	102	1	0	0	0	0	0	0	0	1	16995	581	21	2		2	UNC45A	15	91479208	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1290585	91479208	11052184	552	6462											
ADAMTS17	170691	genome.wustl.edu	37	chr15	100672345	100672345	+	Missense_Mutation	SNP	C	C	T													cgtcttgctcacgcactcccCcgcgcggcaccactgaaaca							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100672345C>T	ENST00000268070.4	-	12	1693	c.1588G>A	c.(1588-1590)Ggg>Agg	p.G530R	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	530	Disintegrin.					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)		ACGCACTCCCCCGCGCGGCAC	0.687											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000140470						21	23	22					15																	100672345		2203	4299	6502	ADAMTS17	SO:0001583	missense	0			-	HGNC	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.1588G>A	15.37:g.100672345C>T	ENSP00000268070:p.Gly530Arg	Somatic	0	117	0	1353	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.59	Q2I7G4|Q6ZN75	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G530R	ENST00000268070.4	37	c.1588	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364725	0.61513	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.70399	-0.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.84683	2.71	0.80722	D	1	P;P	0.45126	0.851;0.618	P;B	0.48270	0.572;0.142	D	0.84098	0.0394	10	0.59425	D	0.04	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	287;530	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	R	530;287	ENSP00000268070:G530R	ENSP00000268070:G530R	G	-	1	0	ADAMTS17	98489868	1.000000	0.71417	0.897000	0.35233	0.495000	0.33615	7.194000	0.77789	2.423000	0.82170	0.561000	0.74099	GGG	-	smart_ADAM_Cys-rich		0.687	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	C	NM_139057	-		100672345	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100672345	C	T	100672345	3	4	102	1	0	0	0	0	1	0	0	0	262	623	22	2	1743	2	ADAMTS17	15	100672345	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9193137	100672345	1859047	553	6463	88	2									
ADAMTS17	170691	genome.wustl.edu	37	chr15	100672346	100672346	+	Silent	SNP	C	C	T													gtcttgctcacgcactccccCgcgcggcaccactgaaacac							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100672346C>T	ENST00000268070.4	-	12	1692	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	529	Disintegrin.					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)		CGCACTCCCCCGCGCGGCACC	0.682											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000140470						21	22	22					15																	100672346		2203	4299	6502	ADAMTS17	SO:0001819	synonymous_variant	0			-	HGNC	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.1587G>A	15.37:g.100672346C>T		Somatic	0	116	0	1353	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	Q2I7G4|Q6ZN75	Silent	SNP							pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A529	ENST00000268070.4	37	c.1587	CCDS10383.1	15																																																																																			-	smart_ADAM_Cys-rich		0.682	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	C	NM_139057	-		100672346	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	silent	SNP	0.004	T	T	100672346	C	T	100672346	2	4	102	1	0	0	0	0	0	0	0	1	262	639	23	1		1	ADAMTS17	15	100672346	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	100672346	1859046	554	6464	88	2									
ADAMTS17	170691	genome.wustl.edu	37	chr15	100801831	100801831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcaccatggtgcccaatgGacaacttagcctaaaaaaag	8	11	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100801831G>A	ENST00000268070.4	-	6	989	c.884C>T	c.(883-885)tCc>tTc	p.S295F	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		GTGCCCAATGGACAACTTAGC	0.527																																																	0								ENSG00000140470						45	37	40					15																	100801831		2203	4300	6503	ADAMTS17	SO:0001583	missense	0			-	HGNC	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.884C>T	15.37:g.100801831G>A	ENSP00000268070:p.Ser295Phe	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.22	Q2I7G4|Q6ZN75	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S295F	ENST00000268070.4	37	c.884	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	7.865	0.726858	0.15439	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87729	-2.29	5.51	4.6	0.57074	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.163931	0.44285	D	0.000474	T	0.77089	0.4079	L	0.27053	0.805	0.48571	D	0.99967	B;P	0.35383	0.008;0.498	B;B	0.30316	0.007;0.114	T	0.73920	-0.3830	10	0.10111	T	0.7	.	15.8467	0.78899	0.0:0.0:0.8633:0.1367	.	52;295	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	F	295;52	ENSP00000268070:S295F	ENSP00000268070:S295F	S	-	2	0	ADAMTS17	98619354	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.076000	0.64413	1.317000	0.45149	-0.152000	0.13540	TCC	-	pfscan_Peptidase_M12B		0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	G	NM_139057	-		100801831	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100801831	G	A	100801831	3	1	102	1	0	0	0	0	1	0	0	0	262	1174	41	2	2471	2	ADAMTS17	15	100801831	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	129485	100801831	1729561	555	6465											
SRRM2	23524	genome.wustl.edu	37	chr16	2812826	2812826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtctctctcttcaccacGgtccaaagcaaaatctcgct	6	15	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:2812826G>A	ENST00000301740.8	+	11	2846	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	766	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)			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						TCTTCACCACGGTCCAAAGCA	0.498																																																	0								ENSG00000167978						136	140	138					16																	2812826		2198	4300	6498	SRRM2	SO:0001583	missense	0			-	HGNC	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	ENST00000301740.8:c.2297G>A	16.37:g.2812826G>A	ENSP00000301740:p.Arg766Gln	Somatic	0	39	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP							pfam_mRNA_splic_Cwf21	p.R766Q	ENST00000301740.8	37	c.2297	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	6.268	0.417566	0.11870	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27402	1.67	5.73	3.71	0.42584	.	0.239593	0.28624	N	0.014692	T	0.18045	0.0433	N	0.19112	0.55	0.19300	N	0.999976	B	0.25955	0.138	B	0.14578	0.011	T	0.16305	-1.0407	10	0.66056	D	0.02	-1.2783	8.0954	0.30824	0.0809:0.3084:0.6107:0.0	.	766	Q9UQ35	SRRM2_HUMAN	Q	766;766;18;731	ENSP00000301740:R766Q	ENSP00000301740:R766Q	R	+	2	0	SRRM2	2752827	0.001000	0.12720	0.719000	0.30619	0.709000	0.40893	0.587000	0.23909	0.724000	0.32296	-0.175000	0.13238	CGG	-	NULL		0.498	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	G		-		2812826	1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	SNP	0.507	A	A	2812826	G	A	2812826	3	1	102	1	0	0	0	0	1	0	0	0	15176	1116	39	1	2335	1	SRRM2	16	2812826	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		2812826	87541927	556	6466											
MMP25	64386	genome.wustl.edu	37	chr16	3100110	3100110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgccggtacgctctgagCggcagcgtgtggaagaagcg	17	11	1	2	rs181894590	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:3100110C>T	ENST00000336577.4	+	3	570	c.333C>T	c.(331-333)agC>agT	p.S111S	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	126					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)	ACGCTCTGAGCGGCAGCGTGT	0.697													C|||	6	0.00119808	0	0	5008	,	,		15502	0.005		0.001	False		,,,				2504	0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0								ENSG00000008516						60	64	63					16																	3100110		2197	4299	6496	MMP25	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.333C>T	16.37:g.3100110C>T		Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	24.14	Q96F04|Q96TE2	Silent	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.S111	ENST00000336577.4	37	c.333	CCDS10492.1	16																																																																																			-	pirsf_Pept_M10A_Metazoans,smart_Peptidase_Metallo		0.697	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	protein_coding	OTTHUMT00000437116.1	C	NM_022468	rs181894590		3100110	1	no_errors	ENST00000336577	ensembl	human	known	74_37	silent	SNP	0.180	T	T	3100110	C	T	3100110	2	4	102	1	0	0	0	0	0	0	0	1	9664	767	27	1		1	MMP25	16	3100110	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	287284	3100110	87254643	557	6467											
SRL	6345	genome.wustl.edu	37	chr16	4242486	4242486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttaaagaccagttctcCatcactgaagaaggtcattt	7	10	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:4242486C>T	ENST00000399609.3	-	6	1102	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	SRL_ENST00000537996.1_Missense_Mutation_p.G322R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	823	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ACCAGTTCTCCATCACTGAAG	0.498																																																	0								ENSG00000185739						96	99	98					16																	4242486		2049	4210	6259	SRL	SO:0001583	missense	0			-	HGNC	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1090G>A	16.37:g.4242486C>T	ENSP00000382518:p.Gly364Arg	Somatic	0	104	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57		Missense_Mutation	SNP							pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.G364R	ENST00000399609.3	37	c.1090	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937478	0.34189	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.28895	1.59;1.59	5.71	5.71	0.89125	.	0.146689	0.45606	U	0.000348	T	0.25269	0.0614	N	0.16368	0.405	0.54753	D	0.999984	P	0.49090	0.919	B	0.43103	0.408	T	0.01729	-1.1286	10	0.30854	T	0.27	-15.2766	19.8525	0.96745	0.0:1.0:0.0:0.0	.	364	Q86TD4-2	.	R	364;822;322	ENSP00000382518:G364R;ENSP00000440350:G322R	ENSP00000333285:G822R	G	-	1	0	SRL	4182487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.146000	0.71777	2.681000	0.91329	0.655000	0.94253	GGA	-	NULL		0.498	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	protein_coding	OTTHUMT00000438087.1	C	XM_064152	-		4242486	-1	no_errors	ENST00000399609	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4242486	C	T	4242486	3	4	102	1	0	0	0	0	1	0	0	0	15157	603	21	2	335	2	SRL	16	4242486	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1142376	4242486	86112267	558	6468											
CORO7	79585	genome.wustl.edu	37	chr16	4405322	4405322	+	Frame_Shift_Del	DEL	G	G	-													cacgccttcaaaggagtcctGggggagtgggtcctcccggt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:4405322delG	ENST00000251166.4	-	27	2882	c.2737delC	c.(2737-2739)cagfs	p.Q913fs	CORO7_ENST00000539968.1_Frame_Shift_Del_p.Q693fs|CORO7_ENST00000574025.1_Frame_Shift_Del_p.Q828fs|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Frame_Shift_Del_p.Q913fs|PAM16_ENST00000576217.1_Intron|CORO7_ENST00000537233.2_Frame_Shift_Del_p.Q895fs	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	913					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AAGGAGTCCTGGGGGAGTGGG	0.617																																																	0								ENSG00000103426						52	42	45					16																	4405322		2197	4300	6497	CORO7-PAM16	SO:0001589	frameshift_variant	0				HGNC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2737delC	16.37:g.4405322delG	ENSP00000251166:p.Gln913fs	Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	B4DFD6|B4DL18|I3L416|Q17RK4	Frame_Shift_Del	DEL							pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q913fs	ENST00000251166.4	37	c.2737	CCDS10513.1	16																																																																																			-	NULL		0.617	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	protein_coding	OTTHUMT00000251628.2	G	NM_024535			4405322	-1	no_errors	ENST00000572467	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	4405322	G	-	4405322	7	5	102	1	0	1	0	1	0	0	0	0	3761	1357	47	0	48	0	CORO7	16	4405322	Frame_Shift_Del	DEL	G	TCGA-DX-A8BP-01A-11D-A37C-09	162836	4405322	85949431	559	6469											
ATF7IP2	80063	genome.wustl.edu	37	chr16	10527500	10527500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggcaaacagcattcctGgaacaggtaaaatattgggg	12	6	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:10527500G>A	ENST00000396560.2	+	4	1181	c.954G>A	c.(952-954)ctG>ctA	p.L318L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.L318L|ATF7IP2_ENST00000356427.2_Silent_p.L318L|ATF7IP2_ENST00000396559.1_Silent_p.L318L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CAGCATTCCTGGAACAGGTAA	0.338																																																	0								ENSG00000166669						53	55	54					16																	10527500		2197	4299	6496	ATF7IP2	SO:0001819	synonymous_variant	0			-	HGNC	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.954G>A	16.37:g.10527500G>A		Somatic	0	82	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP							superfamily_Fibronectin_type3	p.L318	ENST00000396560.2	37	c.954	CCDS10540.1	16																																																																																			-	NULL		0.338	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	protein_coding	OTTHUMT00000251961.1	G	NM_024997	-		10527500	1	no_errors	ENST00000356427	ensembl	human	known	74_37	silent	SNP	0.994	A	A	10527500	G	A	10527500	2	1	102	1	0	0	0	0	0	0	0	1	1088	1335	47	2		2	ATF7IP2	16	10527500	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6122178	10527500	79827253	560	6470											
DNAH3	55567	genome.wustl.edu	37	chr16	20975047	20975047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacctcctccgtaatttCcttcttctgtttcatgatgc	4	15	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:20975047C>T	ENST00000261383.3	-	53	10158	c.10159G>A	c.(10159-10161)Gaa>Aaa	p.E3387K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3387					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.E3387*(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)		TCCGTAATTTCCTTCTTCTGT	0.517																																																	2	Substitution - Nonsense(2)	lung(2)						ENSG00000158486						93	77	82					16																	20975047		2201	4300	6501	DNAH3	SO:0001583	missense	0			-	HGNC	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.10159G>A	16.37:g.20975047C>T	ENSP00000261383:p.Glu3387Lys	Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3387K	ENST00000261383.3	37	c.10159	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.843812	0.00568	.	.	ENSG00000158486	ENST00000261383	T	0.64085	-0.08	5.78	-4.21	0.03812	.	1.799460	0.02692	N	0.110722	T	0.40347	0.1113	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34725	-0.9817	10	0.09590	T	0.72	.	10.8995	0.47043	0.0:0.4217:0.2803:0.298	.	3387	Q8TD57	DYH3_HUMAN	K	3387	ENSP00000261383:E3387K	ENSP00000261383:E3387K	E	-	1	0	DNAH3	20882548	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.147000	0.10234	-0.486000	0.06744	-0.302000	0.09304	GAA	-	NULL		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	C	NM_017539	-		20975047	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	SNP	0.000	T	T	20975047	C	T	20975047	3	4	102	1	0	0	0	0	1	0	0	0	4605	864	30	2	2230	2	DNAH3	16	20975047	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	10447547	20975047	69379706	561	6471											
RBBP6	5930	genome.wustl.edu	37	chr16	24581514	24581514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttcttcaatgaaaatctCgaaactagaagtgactgaaa	7	7	4	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:24581514C>T	ENST00000319715.4	+	17	3935	c.3503C>T	c.(3502-3504)tCg>tTg	p.S1168L	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1134L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1168					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATGAAAATCTCGAAACTAGAA	0.338																																																	0								ENSG00000122257						62	69	67					16																	24581514		2196	4298	6494	RBBP6	SO:0001583	missense	0			-	HGNC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3503C>T	16.37:g.24581514C>T	ENSP00000317872:p.Ser1168Leu	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP							pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1168L	ENST00000319715.4	37	c.3503	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594973	0.66219	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.15718	2.41;2.4	5.86	3.8	0.43715	.	0.362733	0.24735	N	0.036039	T	0.10937	0.0267	N	0.24115	0.695	0.27922	N	0.938219	B;B	0.15473	0.013;0.008	B;B	0.09377	0.004;0.002	T	0.11591	-1.0581	10	0.56958	D	0.05	-5.4837	7.5187	0.27616	0.1252:0.6866:0.121:0.0672	.	1134;1168	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	L	1168;1134	ENSP00000317872:S1168L;ENSP00000316291:S1134L	ENSP00000317872:S1168L	S	+	2	0	RBBP6	24489015	0.928000	0.31464	0.989000	0.46669	0.933000	0.57130	2.105000	0.41825	1.466000	0.48025	0.655000	0.94253	TCG	-	NULL		0.338	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	C	NM_006910	-		24581514	1	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	SNP	0.802	T	T	24581514	C	T	24581514	3	4	102	1	0	0	0	0	1	0	0	0	13111	893	31	1	3623	1	RBBP6	16	24581514	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3606467	24581514	65773239	562	6472											
SRCAP	10847	genome.wustl.edu	37	chr16	30734989	30734989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccagcctcttctccaaTgccaattcccaactcctctc	5	18	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:30734989T>C	ENST00000262518.4	+	25	4629	c.4244T>C	c.(4243-4245)aTg>aCg	p.M1415T	SRCAP_ENST00000395059.2_Missense_Mutation_p.M1353T|SRCAP_ENST00000344771.4_Missense_Mutation_p.M1257T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1415	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTTCTCCAATGCCAATTCCC	0.577																																																	0								ENSG00000080603						229	205	213					16																	30734989		2197	4300	6497	SRCAP	SO:0001583	missense	0			-	HGNC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4244T>C	16.37:g.30734989T>C	ENSP00000262518:p.Met1415Thr	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.M1415T	ENST00000262518.4	37	c.4244	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	T	6.726	0.502688	0.12822	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.64;-2.72;-2.76	5.65	4.57	0.56435	.	0.442515	0.21991	N	0.066146	T	0.79953	0.4535	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.006;0.006;0.002	T	0.71244	-0.4650	10	0.72032	D	0.01	-0.0166	9.1267	0.36818	0.0:0.0856:0.0:0.9144	.	1257;1353;1415	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1415;1353;1257	ENSP00000262518:M1415T;ENSP00000378499:M1353T;ENSP00000343042:M1257T	ENSP00000262518:M1415T	M	+	2	0	SRCAP	30642490	0.002000	0.14202	1.000000	0.80357	0.985000	0.73830	0.642000	0.24735	2.147000	0.66899	0.455000	0.32223	ATG	-	NULL		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	protein_coding	OTTHUMT00000255523.1	T	NM_006662	-		30734989	1	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	SNP	0.792	C	C	30734989	T	C	30734989	3	2	102	1	0	0	0	0	1	0	0	0	15142	1464	51	5	4334	5	SRCAP	16	30734989	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	6153475	30734989	59619764	563	6473											
ABCC12	94160	genome.wustl.edu	37	chr16	48162475	48162475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcctctcactgtatgcCtctgacctctgtttcttgca	7	14	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:48162475C>T	ENST00000311303.3	-	9	1755	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	ABCC12_ENST00000416054.1_Silent_p.E470E|ABCC12_ENST00000448542.1_Silent_p.E470E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	470	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CACTGTATGCCTCTGACCTCT	0.502																																																	0								ENSG00000140798						242	192	209					16																	48162475		2201	4300	6501	ABCC12	SO:0001819	synonymous_variant	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1410G>A	16.37:g.48162475C>T		Somatic	0	103	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E470	ENST00000311303.3	37	c.1410	CCDS10730.1	16																																																																																			-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48162475	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	SNP	0.034	T	T	48162475	C	T	48162475	2	4	102	1	0	0	0	0	0	0	0	1	52	680	24	2		2	ABCC12	16	48162475	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	17427486	48162475	42192278	564	6474											
RFWD3	55159	genome.wustl.edu	37	chr16	74662523	74662523	+	Missense_Mutation	SNP	G	G	A													caccatatggaaatgcagctGaggcagctctgggcatgtat							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:74662523G>A	ENST00000361070.4	-	11	1893	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S599L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	599					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AAATGCAGCTGAGGCAGCTCT	0.522																																																	0								ENSG00000168411						144	146	145					16																	74662523		2198	4300	6498	RFWD3	SO:0001583	missense	0			-	HGNC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1796C>T	16.37:g.74662523G>A	ENSP00000354361:p.Ser599Leu	Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S599L	ENST00000361070.4	37	c.1796	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270039	0.80469	.	.	ENSG00000168411	ENST00000361070	T	0.21191	2.02	5.23	4.26	0.50523	.	0.124866	0.56097	D	0.000030	T	0.27866	0.0686	M	0.76574	2.34	0.58432	D	0.999999	P	0.44986	0.847	B	0.41813	0.367	T	0.08411	-1.0723	10	0.48119	T	0.1	-13.5069	12.9009	0.58125	0.0797:0.0:0.9203:0.0	.	599	Q6PCD5	RFWD3_HUMAN	L	599	ENSP00000354361:S599L	ENSP00000354361:S599L	S	-	2	0	RFWD3	73220024	1.000000	0.71417	0.541000	0.28102	0.992000	0.81027	7.612000	0.82975	1.180000	0.42898	0.655000	0.94253	TCA	-	NULL		0.522	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	protein_coding	OTTHUMT00000436506.2	G	NM_018124	-		74662523	-1	no_errors	ENST00000361070	ensembl	human	known	74_37	missense	SNP	0.995	A	A	74662523	G	A	74662523	3	1	102	1	0	0	0	0	1	0	0	0	13269	1294	45	2	540	2	RFWD3	16	74662523	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	26500048	74662523	15692230	565	6475	89	2									
RFWD3	55159	genome.wustl.edu	37	chr16	74662525	74662525	+	Silent	SNP	G	G	A													ccatatggaaatgcagctgaGgcagctctgggcatgtatga							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:74662525G>A	ENST00000361070.4	-	11	1891	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A	RFWD3_ENST00000571750.1_Silent_p.A598A	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	598					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ATGCAGCTGAGGCAGCTCTGG	0.517																																																	0								ENSG00000168411						143	144	144					16																	74662525		2198	4300	6498	RFWD3	SO:0001819	synonymous_variant	0			-	HGNC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1794C>T	16.37:g.74662525G>A		Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP							pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.A598	ENST00000361070.4	37	c.1794	CCDS32486.1	16																																																																																			-	NULL		0.517	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	protein_coding	OTTHUMT00000436506.2	G	NM_018124	-		74662525	-1	no_errors	ENST00000361070	ensembl	human	known	74_37	silent	SNP	0.959	A	A	74662525	G	A	74662525	2	1	102	1	0	0	0	0	0	0	0	1	13269	987	35	2		2	RFWD3	16	74662525	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2	74662525	15692228	566	6476	89	2									
CNTNAP4	85445	genome.wustl.edu	37	chr16	76573705	76573705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acatggctgatggacaacttCaccacataatgattaacaga	7	9	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:76573705C>T	ENST00000476707.1	+	19	3458	c.3319C>T	c.(3319-3321)Cac>Tac	p.H1107Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H1031Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H1055Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.H1103Y			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1104	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						TGGACAACTTCACCACATAAT	0.363																																																	0								ENSG00000152910						97	100	99					16																	76573705		2084	4270	6354	CNTNAP4	SO:0001583	missense	0			-	HGNC	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.3319C>T	16.37:g.76573705C>T	ENSP00000417628:p.His1107Tyr	Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	E9PFZ6|Q86YZ7	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.H1103Y	ENST00000476707.1	37	c.3307		16	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968780	0.53614	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.03	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43747	D	0.000540	D	0.91653	0.7362	.	.	.	0.52501	D	0.999952	D;P;B	0.54207	0.965;0.828;0.186	P;P;B	0.54924	0.764;0.58;0.158	D	0.92282	0.5834	9	0.66056	D	0.02	.	18.9171	0.92510	0.0:1.0:0.0:0.0	.	1031;1107;1104	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	Y	1103;1055;1031;1107	ENSP00000306893:H1103Y;ENSP00000439733:H1055Y;ENSP00000418741:H1031Y;ENSP00000417628:H1107Y	ENSP00000306893:H1103Y	H	+	1	0	CNTNAP4	75131206	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.201000	0.77847	2.771000	0.95319	0.650000	0.86243	CAC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	C	NM_033401	-		76573705	1	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76573705	C	T	76573705	3	4	102	1	0	0	0	0	1	0	0	0	3651	826	29	2	3401	2	CNTNAP4	16	76573705	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1911180	76573705	13781048	567	6477											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77334275	77334275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcatacttccaagctatCcctggatttttgccttgcat	7	11	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:77334275C>T	ENST00000282849.5	-	17	2977	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	853	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAAGCTATCCCTGGATTTT	0.453																																																	0								ENSG00000140873						121	108	112					16																	77334275		2198	4300	6498	ADAMTS18	SO:0001819	synonymous_variant	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2559G>A	16.37:g.77334275C>T		Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q6P4R5|Q6ZWJ9	Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G853	ENST00000282849.5	37	c.2559	CCDS10926.1	16																																																																																			-	pfam_ADAM_spacer1		0.453	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	C		-		77334275	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	silent	SNP	0.991	T	T	77334275	C	T	77334275	2	4	102	1	0	0	0	0	0	0	0	1	263	842	30	2		2	ADAMTS18	16	77334275	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	760570	77334275	13020478	568	6478											
VPS53	55275	genome.wustl.edu	37	chr17	455141	455141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtcagggcaggatcacAggcagcatccagatcctgaa	13	11	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:455141A>G	ENST00000571805.1	-	17	1973	c.1837T>C	c.(1837-1839)Tgt>Cgt	p.C613R	VPS53_ENST00000437048.2_Missense_Mutation_p.C613R|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.C415R|VPS53_ENST00000401468.3_Missense_Mutation_p.C336R|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.C584R			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	613					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAGGATCACAGGCAGCATCC	0.522																																																	0								ENSG00000141252						83	61	68					17																	455141		2203	4300	6503	VPS53	SO:0001583	missense	0			-	HGNC		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1837T>C	17.37:g.455141A>G	ENSP00000459312:p.Cys613Arg	Somatic	0	26	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP							pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.C613R	ENST00000571805.1	37	c.1837		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.138898|4.138898	0.77775|0.77775	.|.	.|.	ENSG00000141252|ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468|ENST00000389040	T;T;T;T|T	0.50813|0.34275	1.32;1.36;1.36;0.73|1.37	5.62|5.62	4.52|4.52	0.55395|0.55395	.|.	0.148341|.	0.64402|.	D|.	0.000003|.	T|T	0.56352|0.56352	0.1979|0.1979	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.87578|.	0.994;0.998;0.997;0.996;0.993|.	T|T	0.61377|0.61377	-0.7075|-0.7075	10|7	0.87932|0.87932	D|D	0|0	-11.2855|-11.2855	11.5104|11.5104	0.50490|0.50490	0.8655:0.0:0.0:0.1344|0.8655:0.0:0.0:0.1344	.|.	336;613;415;613;584|.	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2|.	.;.;.;VPS53_HUMAN;.|.	R|P	613;415;584;336|547	ENSP00000401435:C613R;ENSP00000394386:C415R;ENSP00000291074:C584R;ENSP00000384294:C336R|ENSP00000373692:L547P	ENSP00000291074:C584R|ENSP00000373692:L547P	C|L	-|-	1|2	0|0	VPS53|VPS53	401891|401891	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.963000|0.963000	0.63663|0.63663	8.910000|8.910000	0.92685|0.92685	1.031000|1.031000	0.39867|0.39867	0.533000|0.533000	0.62120|0.62120	TGT|CTG	-	NULL		0.522	VPS53-006	KNOWN	basic	protein_coding	VPS53	protein_coding	OTTHUMT00000436940.2	A	NM_018289	-		455141	-1	no_errors	ENST00000437048	ensembl	human	known	74_37	missense	SNP	1.000	G	G	455141	A	G	455141	3	3	102	1	0	0	0	0	1	0	0	0	17222	188	7	5	700	5	VPS53	17	455141	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09		455141	80740069	569	6479											
SMG6	23293	genome.wustl.edu	37	chr17	2090028	2090028	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgagcatccaatctgaccaGactttgacactggggagcag	11	12	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:2090028G>A	ENST00000263073.6	-	12	3134	c.3084C>T	c.(3082-3084)gtC>gtT	p.V1028V	SMG6_ENST00000354901.4_Silent_p.V120V|SMG6_ENST00000536871.2_Silent_p.V120V|SMG6_ENST00000544865.1_Silent_p.V997V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1028					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AATCTGACCAGACTTTGACAC	0.577																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						140	103	115					17																	2090028		2203	4300	6503	SMG6	SO:0001819	synonymous_variant	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3084C>T	17.37:g.2090028G>A		Somatic	0	94	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP							pfam_EST1,smart_PIN_dom	p.V1028	ENST00000263073.6	37	c.3084	CCDS11016.1	17																																																																																			-	NULL		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	G		-		2090028	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	silent	SNP	0.996	A	A	2090028	G	A	2090028	2	1	102	1	0	0	0	0	0	0	0	1	14805	929	33	2		2	SMG6	17	2090028	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1634887	2090028	79105182	570	6480											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2908721	2908721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctctgcccagtccccCcgttttccagaaggtaggac	8	17	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:2908721C>T	ENST00000254695.8	+	15	1349	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P420L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P405L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P401L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	420	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCAGTCCCCCCGTTTTCCAG	0.562																																																	0								ENSG00000132359						181	183	182					17																	2908721		2003	4193	6196	RAP1GAP2	SO:0001583	missense	0			-	HGNC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1259C>T	17.37:g.2908721C>T	ENSP00000254695:p.Pro420Leu	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP							pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.P420L	ENST00000254695.8	37	c.1259	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368553	0.82463	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.98	4.98	0.66077	Rap/ran-GAP (2);	0.153676	0.64402	D	0.000012	D	0.95004	0.8383	M	0.77616	2.38	0.80722	D	1	P;P	0.45283	0.825;0.855	B;P	0.46026	0.389;0.501	D	0.94600	0.7795	10	0.40728	T	0.16	-26.1895	16.9918	0.86356	0.0:1.0:0.0:0.0	.	405;420	Q684P5-2;Q684P5	.;RPGP2_HUMAN	L	420;405;401;420	ENSP00000254695:P420L;ENSP00000389824:P405L;ENSP00000439688:P401L;ENSP00000444890:P420L	ENSP00000254695:P420L	P	+	2	0	RAP1GAP2	2855471	0.990000	0.36364	1.000000	0.80357	0.869000	0.49853	5.651000	0.67951	2.589000	0.87451	0.561000	0.74099	CCC	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	protein_coding	OTTHUMT00000438208.2	C		-		2908721	1	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2908721	C	T	2908721	3	4	102	1	0	0	0	0	1	0	0	0	13046	623	22	2	1317	2	RAP1GAP2	17	2908721	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	818693	2908721	78286489	571	6481											
ANKFY1	51479	genome.wustl.edu	37	chr17	4075911	4075911	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggcatgcattctaggaagaGatcaaagatggccgctgcat	12	9	2	2	rs552448221		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:4075911G>C	ENST00000341657.4	-	22	3114	c.3079C>G	c.(3079-3081)Ctc>Gtc	p.L1027V	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.L1028V|ANKFY1_ENST00000570535.1_Missense_Mutation_p.L1069V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1027					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTAGGAAGAGATCAAAGATG	0.517																																																	0								ENSG00000185722						88	95	93					17																	4075911		1972	4162	6134	ANKFY1	SO:0001583	missense	0			-	HGNC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3079C>G	17.37:g.4075911G>C	ENSP00000343362:p.Leu1027Val	Somatic	0	91	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.L1069V	ENST00000341657.4	37	c.3205		17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405541	0.62288	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.88979	2.995	0.80722	D	1	D;P;P;P	0.71674	0.998;0.615;0.607;0.734	D;B;B;B	0.77557	0.99;0.1;0.12;0.203	D	0.84132	0.0412	9	0.35671	T	0.21	-13.5706	18.5445	0.91042	0.0:0.0:1.0:0.0	.	969;1027;1028;1069	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	1028;969	.	ENSP00000343362:L1028V	L	-	1	0	ANKFY1	4022660	1.000000	0.71417	0.998000	0.56505	0.180000	0.23129	4.738000	0.62073	2.711000	0.92665	0.563000	0.77884	CTC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.517	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	protein_coding	OTTHUMT00000438702.1	G	NM_016376	-		4075911	-1	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	SNP	1.000	C	C	4075911	G	C	4075911	3	2	102	1	0	0	0	0	1	0	0	0	626	942	33	4	446	4	ANKFY1	17	4075911	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1167190	4075911	77119299	572	6482											
TP53	7157	genome.wustl.edu	37	chr17	7578527	7578527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcttggccagttggcAaaacatcttgttgagggcag	14	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:7578527A>G	ENST00000269305.4	-	5	592	c.403T>C	c.(403-405)Tgc>Cgc	p.C135R	TP53_ENST00000445888.2_Missense_Mutation_p.C135R|TP53_ENST00000420246.2_Missense_Mutation_p.C135R|TP53_ENST00000359597.4_Missense_Mutation_p.C135R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C135R|TP53_ENST00000455263.2_Missense_Mutation_p.C135R	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	135	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).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(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)	GCCAGTTGGCAAAACATCTTG	0.567		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	49	Substitution - Missense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(5)|biliary_tract(5)|breast(5)|large_intestine(4)|oesophagus(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|urinary_tract(2)|pancreas(2)|stomach(1)|skin(1)|penis(1)|ovary(1)						ENSG00000141510						49	50	49					17																	7578527		2203	4300	6503	TP53	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;	-	HGNC	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.403T>C	17.37:g.7578527A>G	ENSP00000269305:p.Cys135Arg	Somatic	0	41	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135R	ENST00000269305.4	37	c.403	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340491	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	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	0.99743	0.9898	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97181	0.9851	10	0.87932	D	0	-26.815	13.8301	0.63375	1.0:0.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135R;ENSP00000352610:C135R;ENSP00000269305:C135R;ENSP00000398846:C135R;ENSP00000391127:C135R;ENSP00000391478:C135R;ENSP00000425104:C3R;ENSP00000423862:C42R;ENSP00000424104:C135R	ENSP00000269305:C135R	C	-	1	0	TP53	7519252	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	TGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578527	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7578527	A	G	7578527	3	3	102	1	0	0	0	0	1	0	0	0	16388	130	5	5	895	5	TP53	17	7578527	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	3502616	7578527	73616683	573	6483											
DNAH2	146754	genome.wustl.edu	37	chr17	7726772	7726772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaccaggtcttggatcggGagggccaaatggacaatcca	12	12	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:7726772G>A	ENST00000572933.1	+	74	12615	c.11155G>A	c.(11155-11157)Gag>Aag	p.E3719K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3719K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3719					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGGATCGGGAGGGCCAAAT	0.478																																																	0								ENSG00000183914						151	136	141					17																	7726772		2203	4300	6503	DNAH2	SO:0001583	missense	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11155G>A	17.37:g.7726772G>A	ENSP00000458355:p.Glu3719Lys	Somatic	0	93	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3719K	ENST00000572933.1	37	c.11155	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847783	0.51164	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.54279	0.58	5.35	5.35	0.76521	.	0.142101	0.49916	D	0.000128	T	0.41581	0.1165	L	0.31476	0.935	0.80722	D	1	B;B	0.22146	0.065;0.02	B;B	0.27608	0.049;0.081	T	0.28744	-1.0034	10	0.06891	T	0.86	.	17.8305	0.88680	0.0:0.0:1.0:0.0	.	3680;3719	Q9P225-2;Q9P225	.;DYH2_HUMAN	K	3680;3719	ENSP00000373825:E3719K	ENSP00000353818:E3680K	E	+	1	0	DNAH2	7667497	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.648000	0.61425	2.516000	0.84829	0.609000	0.83330	GAG	-	NULL		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-		7726772	1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	SNP	0.986	A	A	7726772	G	A	7726772	3	1	102	1	0	0	0	0	1	0	0	0	4604	1175	41	2	11445	2	DNAH2	17	7726772	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	148245	7726772	73468438	574	6484											
PER1	5187	genome.wustl.edu	37	chr17	8046790	8046790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgagggcgggcaaggatgGagaaggggagtgcgaggcag	24	5	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:8046790G>A	ENST00000317276.4	-	19	3103	c.2866C>T	c.(2866-2868)Cca>Tca	p.P956S	PER1_ENST00000581082.1_Missense_Mutation_p.P933S|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	956	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCAAGGATGGAGAAGGGGAG	0.617			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								ENSG00000179094						32	22	26					17																	8046790		2202	4300	6502	PER1	SO:0001583	missense	0			-	HGNC	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2866C>T	17.37:g.8046790G>A	ENSP00000314420:p.Pro956Ser	Somatic	0	86	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P956S	ENST00000317276.4	37	c.2866	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591823	0.28357	.	.	ENSG00000179094	ENST00000317276	T	0.13778	2.56	5.47	4.5	0.54988	.	0.259857	0.37715	N	0.001962	T	0.10294	0.0252	N	0.25890	0.77	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11324	-1.0592	10	0.32370	T	0.25	-4.8769	11.7957	0.52098	0.0854:0.0:0.9146:0.0	.	956	O15534	PER1_HUMAN	S	956	ENSP00000314420:P956S	ENSP00000314420:P956S	P	-	1	0	PER1	7987515	1.000000	0.71417	0.159000	0.22649	0.203000	0.24098	4.629000	0.61290	1.319000	0.45190	0.467000	0.42956	CCA	-	NULL		0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	protein_coding	OTTHUMT00000441481.2	G		-		8046790	-1	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	SNP	0.542	A	A	8046790	G	A	8046790	3	1	102	1	0	0	0	0	1	0	0	0	11731	1174	41	2	1026	2	PER1	17	8046790	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	320018	8046790	73148420	575	6485											
WDR16	146845	genome.wustl.edu	37	chr17	9536293	9536293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacaggatcggcgtcacCgccatcgccaccaccagtga	10	17	2	1	rs187332485	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:9536293C>T	ENST00000352665.5	+	10	1332	c.1263C>T	c.(1261-1263)acC>acT	p.T421T	WDR16_ENST00000396219.3_Silent_p.T353T|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Silent_p.T431T	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCGGCGTCACCGCCATCGCCA	0.502													C|||	4	0.000798722	8e-04	0	5008	,	,		17649	0		0	False		,,,				2504	0.0031																0								ENSG00000166596						81	70	74					17																	9536293		2203	4300	6503	WDR16	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1263C>T	17.37:g.9536293C>T		Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13		Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T431	ENST00000352665.5	37	c.1293	CCDS11149.2	17																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.502	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	protein_coding	OTTHUMT00000316569.2	C	NM_145054	rs187332485		9536293	1	no_errors	ENST00000299764	ensembl	human	known	74_37	silent	SNP	0.002	T	T	9536293	C	T	9536293	2	4	102	1	0	0	0	0	0	0	0	1	17283	639	23	1		1	WDR16	17	9536293	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1489503	9536293	71658917	576	6486											
MYH4	4622	genome.wustl.edu	37	chr17	10363547	10363547	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtctggcctttggttacGaactcattgccgaccttgac	9	12	2	1	rs370061303		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:10363547G>A	ENST00000255381.2	-	13	1349	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	413	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						CTTTGGTTACGAACTCATTGC	0.433																																																	0								ENSG00000264424	G		0,4406		0,0,2203	123	111	115		1239	-11.1	0	17		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		413/1940	10363547	1,13005	2203	4300	6503	MYH4	SO:0001819	synonymous_variant	0			-	HGNC		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.1239C>T	17.37:g.10363547G>A		Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12		Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F413	ENST00000255381.2	37	c.1239	CCDS11154.1	17																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533	-		10363547	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	silent	SNP	0.000	A	A	10363547	G	A	10363547	2	1	102	1	0	0	0	0	0	0	0	1	10039	1049	37	1		1	MYH4	17	10363547	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	827254	10363547	70831663	577	6487											
DNAH9	1770	genome.wustl.edu	37	chr17	11607592	11607592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggctggaggaaggcTatgagagtgccatgaaggac	16	7	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:11607592T>C	ENST00000262442.4	+	25	5292	c.5224T>C	c.(5224-5226)Tat>Cat	p.Y1742H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y1742H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1742	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)			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)		GGAGGAAGGCTATGAGAGTGC	0.527																																																	0								ENSG00000007174						121	115	117					17																	11607592		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	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.5224T>C	17.37:g.11607592T>C	ENSP00000262442:p.Tyr1742His	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y1742H	ENST00000262442.4	37	c.5224	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900718	0.72754	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25414	1.84;1.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.62209	1.925	0.80722	D	1	B	0.23316	0.083	B	0.30105	0.111	T	0.04723	-1.0931	10	0.34782	T	0.22	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1742	Q9NYC9	DYH9_HUMAN	H	1742;1742;324	ENSP00000262442:Y1742H;ENSP00000414874:Y1742H	ENSP00000262442:Y1742H	Y	+	1	0	DNAH9	11548317	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.630000	0.83225	2.269000	0.75478	0.533000	0.62120	TAT	-	NULL		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	T	NM_001372	-		11607592	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11607592	T	C	11607592	3	2	102	1	0	0	0	0	1	0	0	0	4610	1522	53	5	5322	5	DNAH9	17	11607592	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1244045	11607592	69587618	578	6488											
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13400075	13400075	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgggggcctcccgcgtgacGaagtaactgggcgtcttctc	15	13	2	1	rs146268308		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:13400075G>A	ENST00000284110.1	-	2	1457	c.660C>T	c.(658-660)ttC>ttT	p.F220F	HS3ST3A1_ENST00000578576.1_Silent_p.F18F	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCGCGTGACGAAGTAACTGG	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		18619	0		0	False		,,,				2504	0																0								ENSG00000153976	G		1,4403	2.1+/-5.4	0,1,2201	64	77	72		660	-5.1	0.8	17	dbSNP_134	72	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	HS3ST3A1	NM_006042.1		0,7,6495	AA,AG,GG		0.0698,0.0227,0.0538		220/407	13400075	7,12997	2202	4300	6502	HS3ST3A1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.660C>T	17.37:g.13400075G>A		Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A8K7N2	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.F220	ENST00000284110.1	37	c.660	CCDS11165.1	17																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.612	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	protein_coding	OTTHUMT00000129952.1	G	NM_006042	rs146268308		13400075	-1	no_errors	ENST00000284110	ensembl	human	known	74_37	silent	SNP	0.659	A	A	13400075	G	A	13400075	2	1	102	1	0	0	0	0	0	0	0	1	7367	1049	37	1		1	HS3ST3A1	17	13400075	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1792483	13400075	67795135	579	6489											
TTC19	54902	genome.wustl.edu	37	chr17	15909809	15909809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaatttgctgttgctggCtatgaattctgcatttcaac	9	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:15909809C>T	ENST00000261647.5	+	7	1072	c.603C>T	c.(601-603)ggC>ggT	p.G201G	TTC19_ENST00000486880.2_Silent_p.G322G|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	201					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGTTGCTGGCTATGAATTCT	0.363																																																	0								ENSG00000011295						108	118	115					17																	15909809		2203	4300	6503	TTC19	SO:0001819	synonymous_variant	0			-	HGNC	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"Tetratricopeptide (TTC) repeat domain containing"	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.603C>T	17.37:g.15909809C>T		Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP							smart_TPR_repeat,pfscan_TPR-contain_dom	p.G322	ENST00000261647.5	37	c.966	CCDS11174.2	17																																																																																			-	NULL		0.363	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	protein_coding	OTTHUMT00000131725.6	C	NM_017775	-		15909809	1	no_errors	ENST00000486880	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15909809	C	T	15909809	2	4	102	1	0	0	0	0	0	0	0	1	16693	784	28	2		2	TTC19	17	15909809	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2509734	15909809	65285401	580	6490											
RNF112	7732	genome.wustl.edu	37	chr17	19316653	19316653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagggctgcaggtggGgcgccaatggcctcgccagg	17	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:19316653G>A	ENST00000461366.1	+	5	864	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	217	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGCAGGTGGGGCGCCAATGG	0.637																																																	0								ENSG00000128482						21	25	23					17																	19316653		1952	4131	6083	RNF112	SO:0001583	missense	0			-	HGNC	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"RING-type (C3HC4) zinc fingers"	12968	protein-coding gene	gene with protein product		601237	"zinc finger protein 179"	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.649G>A	17.37:g.19316653G>A	ENSP00000454919:p.Gly217Ser	Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	30	43.40	O60633|Q7Z5V9	Missense_Mutation	SNP							pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING	p.G217S	ENST00000461366.1	37	c.649	CCDS58529.1	17																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.637	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	protein_coding	OTTHUMT00000132549.4	G	NM_007148	-		19316653	1	no_errors	ENST00000461366	ensembl	human	novel	74_37	missense	SNP	0.793	A	A	19316653	G	A	19316653	3	1	102	1	0	0	0	0	1	0	0	0	13434	1232	43	2	377	2	RNF112	17	19316653	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3406844	19316653	61878557	581	6491											
POLDIP2	26073	genome.wustl.edu	37	chr17	26679948	26679948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagattaccttttgtctgGtcatacagaagaaatctttc	8	7	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:26679948G>A	ENST00000540200.1	-	7	608	c.609C>T	c.(607-609)gaC>gaT	p.D203D	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	204					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTTTTGTCTGGTCATACAGAA	0.473																																																	0								ENSG00000004142						68	67	67					17																	26679948		1854	4096	5950	POLDIP2	SO:0001819	synonymous_variant	0			-	HGNC	AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.609C>T	17.37:g.26679948G>A		Somatic	0	104	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	B2R846|Q96JE4	Silent	SNP							pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain	p.D203	ENST00000540200.1	37	c.609		17																																																																																			-	NULL		0.473	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	POLDIP2	protein_coding		G	NM_015584	-		26679948	-1	no_errors	ENST00000540200	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26679948	G	A	26679948	2	1	102	1	0	0	0	0	0	0	0	1	12196	1252	44	2		2	POLDIP2	17	26679948	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7363295	26679948	54515262	582	6492											
SLC13A2	9058	genome.wustl.edu	37	chr17	26817366	26817366	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtttcgagagcccaggGgaatgccagtctgtgggaat	14	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:26817366G>A	ENST00000314669.5	+	3	651				SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000444914.3_Silent_p.G91G|SLC13A2_ENST00000545060.1_Intron	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AGAGCCCAGGGGAATGCCAGT	0.517																																																	0								ENSG00000007216						23	26	25					17																	26817366		692	1591	2283	SLC13A2	SO:0001627	intron_variant	0			-	HGNC	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.232-106G>A	17.37:g.26817366G>A		Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.G91	ENST00000314669.5	37	c.273	CCDS11231.1	17																																																																																			-	pfam_Na/sul_symport		0.517	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	protein_coding	OTTHUMT00000255722.1	G	NM_003984	-		26817366	1	no_errors	ENST00000444914	ensembl	human	known	74_37	silent	SNP	0.148	A	A	26817366	G	A	26817366	1	1	102	0	1	0	0	0	0	0	0	0	14400	1219	43	2		2	SLC13A2	17	26817366	Intron	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	137418	26817366	54377844	583	6493											
TAOK1	57551	genome.wustl.edu	37	chr17	27818848	27818848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttgcctccagaaaatcCctcaagatcgacctacatca	4	14	3	2	rs369963000		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:27818848C>T	ENST00000261716.3	+	10	1315	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TAOK1_ENST00000536202.1_Missense_Mutation_p.P266S	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCAGAAAATCCCTCAAGATCG	0.333																																																	0								ENSG00000160551						113	111	112					17																	27818848		2203	4300	6503	TAOK1	SO:0001583	missense	0			-	HGNC	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.796C>T	17.37:g.27818848C>T	ENSP00000261716:p.Pro266Ser	Somatic	0	98	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P266S	ENST00000261716.3	37	c.796	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299159	0.60195	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;T	0.85258	-1.96;1.23	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050225	0.85682	D	0.000000	D	0.89287	0.6672	M	0.78801	2.425	0.80722	D	1	P;P;B	0.45594	0.862;0.673;0.322	P;P;B	0.48114	0.567;0.461;0.215	D	0.90440	0.4431	10	0.62326	D	0.03	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	266;92;266	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	S	266	ENSP00000261716:P266S;ENSP00000438819:P266S	ENSP00000261716:P266S	P	+	1	0	TAOK1	24842974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.857000	0.62939	2.590000	0.87494	0.455000	0.32223	CCT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.333	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	protein_coding	OTTHUMT00000447790.1	C	NM_020791	-		27818848	1	no_errors	ENST00000261716	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27818848	C	T	27818848	3	4	102	1	0	0	0	0	1	0	0	0	15554	623	22	2	830	2	TAOK1	17	27818848	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1001482	27818848	53376362	584	6494											
SLC6A4	6532	genome.wustl.edu	37	chr17	28548792	28548792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtggtggtcgctgggataGagtgccgtgtgtcatctccc	16	9	2	1	rs201041934		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:28548792G>A	ENST00000401766.2	-	2	697	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SLC6A4_ENST00000261707.3_Missense_Mutation_p.S62F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	62					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CGCTGGGATAGAGTGCCGTGT	0.557																																																	0								ENSG00000108576						237	205	216					17																	28548792		2203	4300	6503	SLC6A4	SO:0001583	missense	0			-	HGNC	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.185C>T	17.37:g.28548792G>A	ENSP00000385822:p.Ser62Phe	Somatic	0	133	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	Q5EE02	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.S62F	ENST00000401766.2	37	c.185	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650306	0.47362	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.66099	-0.19;-0.19	5.61	5.61	0.85477	Sodium:neurotransmitter symporter, serotonin, N-terminal (2);	1.206180	0.05501	N	0.558387	T	0.59046	0.2165	N	0.19112	0.55	0.20873	N	0.999837	B	0.29612	0.251	B	0.37780	0.258	T	0.55121	-0.8190	10	0.66056	D	0.02	.	13.893	0.63753	0.0751:0.0:0.9249:0.0	.	62	P31645	SC6A4_HUMAN	F	104;62;62	ENSP00000385822:S62F;ENSP00000261707:S62F	ENSP00000261707:S62F	S	-	2	0	SLC6A4	25572918	0.007000	0.16637	0.020000	0.16555	0.022000	0.10575	1.360000	0.34125	2.653000	0.90120	0.655000	0.94253	TCT	-	pfam_Na/ntran_symport_serotonin_N,prints_Na/ntran_symport_serotonin_N		0.557	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	protein_coding	OTTHUMT00000256115.3	G	NM_001045	-		28548792	-1	no_errors	ENST00000261707	ensembl	human	known	74_37	missense	SNP	0.193	A	A	28548792	G	A	28548792	3	1	102	1	0	0	0	0	1	0	0	0	14694	942	33	2	1759	2	SLC6A4	17	28548792	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	729944	28548792	52646418	585	6495											
ATAD5	79915	genome.wustl.edu	37	chr17	29205036	29205036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtaggttgatgtaatttttGatgaagatgctgggtttttg	13	1	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29205036G>A	ENST00000321990.4	+	17	4312	c.3934G>A	c.(3934-3936)Gat>Aat	p.D1312N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1312					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGTAATTTTTGATGAAGATGC	0.284																																																	0								ENSG00000176208						95	104	101					17																	29205036		2203	4299	6502	ATAD5	SO:0001583	missense	0			-	HGNC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3934G>A	17.37:g.29205036G>A	ENSP00000313171:p.Asp1312Asn	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	29.63	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP							pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D1312N	ENST00000321990.4	37	c.3934	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546428	0.86022	.	.	ENSG00000176208	ENST00000321990	T	0.18016	2.24	5.0	5.0	0.66597	ATPase, AAA+ type, core (1);	0.219468	0.45867	D	0.000325	T	0.24084	0.0583	L	0.45352	1.415	0.47778	D	0.999514	D	0.56035	0.974	P	0.50136	0.632	T	0.01448	-1.1352	10	0.23302	T	0.38	.	18.3397	0.90300	0.0:0.0:1.0:0.0	.	1312	Q96QE3	ATAD5_HUMAN	N	1312	ENSP00000313171:D1312N	ENSP00000313171:D1312N	D	+	1	0	ATAD5	26229162	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.998000	0.76277	2.320000	0.78422	0.485000	0.47835	GAT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.284	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	protein_coding	OTTHUMT00000256206.2	G	NM_024857	-		29205036	1	no_errors	ENST00000321990	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29205036	G	A	29205036	3	1	102	1	0	0	0	0	1	0	0	0	1076	1290	45	2	4000	2	ATAD5	17	29205036	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	656244	29205036	51990174	586	6496											
NF1	4763	genome.wustl.edu	37	chr17	29588840	29588840	+	Silent	SNP	C	C	T													acacactggtccagccttaaCcttaccagttcaaagtttga							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29588840C>T	ENST00000358273.4	+	35	5072	c.4689C>T	c.(4687-4689)aaC>aaT	p.N1563N	NF1_ENST00000356175.3_Silent_p.N1542N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1563					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)	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)		CCAGCCTTAACCTTACCAGTT	0.433			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)						ENSG00000196712						88	79	82					17																	29588840		2203	4300	6503	NF1	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.4689C>T	17.37:g.29588840C>T		Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.N1563	ENST00000358273.4	37	c.4689	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	-		29588840	1	no_errors	ENST00000358273	ensembl	human	known	74_37	silent	SNP	0.994	T	T	29588840	C	T	29588840	2	4	102	1	0	0	0	0	0	0	0	1	10358	506	18	2		2	NF1	17	29588840	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	383804	29588840	51606370	587	6497	90	2									
NF1	4763	genome.wustl.edu	37	chr17	29588841	29588841	+	Missense_Mutation	SNP	C	C	T													cacactggtccagccttaacCttaccagttcaaagtttgag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29588841C>T	ENST00000358273.4	+	35	5073	c.4690C>T	c.(4690-4692)Ctt>Ttt	p.L1564F	NF1_ENST00000356175.3_Missense_Mutation_p.L1543F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1564					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)	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)		CAGCCTTAACCTTACCAGTTC	0.433			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)						ENSG00000196712						87	79	82					17																	29588841		2203	4300	6503	NF1	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.4690C>T	17.37:g.29588841C>T	ENSP00000351015:p.Leu1564Phe	Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L1564F	ENST00000358273.4	37	c.4690	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479071	0.84747	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.10192	3.06;3.21;2.9	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.34521	1.04	0.80722	D	1	B;D;P	0.69078	0.212;0.997;0.935	B;D;P	0.78314	0.071;0.991;0.714	T	0.00244	-1.1883	10	0.56958	D	0.05	.	12.4193	0.55512	0.0:0.924:0.0:0.076	.	593;1543;1564	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	F	1564;1543;1209	ENSP00000351015:L1564F;ENSP00000348498:L1543F;ENSP00000389907:L1209F	ENSP00000348498:L1543F	L	+	1	0	NF1	26612967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.486000	0.60286	2.761000	0.94854	0.650000	0.86243	CTT	-	superfamily_ARM-type_fold		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	-		29588841	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29588841	C	T	29588841	3	4	102	1	0	0	0	0	1	0	0	0	10358	681	24	2	4889	2	NF1	17	29588841	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	29588841	51606369	588	6498	90	2									
OMG	4974	genome.wustl.edu	37	chr17	29622771	29622771	+	Silent	SNP	G	G	A													ttgtgcaggtaaagatgtgtGagatttgtcaggtttattaa							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29622771G>A	ENST00000247271.4	-	2	840	c.579C>T	c.(577-579)ctC>ctT	p.L193L	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	193					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AAAGATGTGTGAGATTTGTCA	0.378																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000126861						193	197	195					17																	29622771		2203	4300	6503	OMG	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.579C>T	17.37:g.29622771G>A		Somatic	0	100	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	E1P659	Silent	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L193	ENST00000247271.4	37	c.579	CCDS11265.1	17																																																																																			-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.378	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	protein_coding	OTTHUMT00000256350.2	G	NM_002544	-		29622771	-1	no_errors	ENST00000247271	ensembl	human	known	74_37	silent	SNP	0.958	A	A	29622771	G	A	29622771	2	1	102	1	0	0	0	0	0	0	0	1	10868	1277	45	2		2	OMG	17	29622771	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	33930	29622771	51572439	589	6499	91	2									
OMG	4974	genome.wustl.edu	37	chr17	29622773	29622773	+	Missense_Mutation	SNP	G	G	A													gtgcaggtaaagatgtgtgaGatttgtcaggtttattaatg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29622773G>A	ENST00000247271.4	-	2	838	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	193					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AGATGTGTGAGATTTGTCAGG	0.378																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000126861						192	197	195					17																	29622773		2203	4300	6503	OMG	SO:0001583	missense	0			-	HGNC		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.577C>T	17.37:g.29622773G>A	ENSP00000247271:p.Leu193Phe	Somatic	0	99	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	E1P659	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L193F	ENST00000247271.4	37	c.577	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792907	0.50102	.	.	ENSG00000126861	ENST00000247271	T	0.80393	-1.37	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000039	D	0.93595	0.7955	H	0.95850	3.73	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.94733	0.7911	10	0.87932	D	0	-4.5305	20.269	0.98464	0.0:0.0:1.0:0.0	.	193	P23515	OMGP_HUMAN	F	193	ENSP00000247271:L193F	ENSP00000247271:L193F	L	-	1	0	OMG	26646899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.188000	0.65093	2.878000	0.98634	0.650000	0.86243	CTC	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.378	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	protein_coding	OTTHUMT00000256350.2	G	NM_002544	-		29622773	-1	no_errors	ENST00000247271	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29622773	G	A	29622773	3	1	102	1	0	0	0	0	1	0	0	0	10868	942	33	2	749	2	OMG	17	29622773	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2	29622773	51572437	590	6500	91	2									
STAC2	342667	genome.wustl.edu	37	chr17	37374401	37374401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcggaggatggtcttgaggGagagggagcgcttgaatcgc	18	6	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:37374401G>A	ENST00000333461.5	-	2	485	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	39					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GGTCTTGAGGGAGAGGGAGCG	0.617																																																	0								ENSG00000141750						29	32	31					17																	37374401		2195	4286	6481	STAC2	SO:0001583	missense	0			-	HGNC	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.116C>T	17.37:g.37374401G>A	ENSP00000327509:p.Ser39Phe	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q32MA3	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.S39F	ENST00000333461.5	37	c.116	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	26.3	4.726919	0.89390	.	.	ENSG00000141750	ENST00000333461	D	0.85411	-1.98	5.43	5.43	0.79202	.	0.070853	0.56097	D	0.000022	D	0.91178	0.7221	L	0.59436	1.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.91853	0.5493	10	0.87932	D	0	-17.6673	18.0109	0.89222	0.0:0.0:1.0:0.0	.	39	Q6ZMT1	STAC2_HUMAN	F	39	ENSP00000327509:S39F	ENSP00000327509:S39F	S	-	2	0	STAC2	34627927	1.000000	0.71417	0.911000	0.35937	0.849000	0.48306	9.003000	0.93577	2.538000	0.85594	0.467000	0.42956	TCC	-	NULL		0.617	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	protein_coding	OTTHUMT00000444533.2	G	NM_198993	-		37374401	-1	no_errors	ENST00000333461	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37374401	G	A	37374401	3	1	102	1	0	0	0	0	1	0	0	0	15247	1174	41	2	1159	2	STAC2	17	37374401	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7751628	37374401	43820809	591	6501											
RARA	5914	genome.wustl.edu	37	chr17	38511541	38511541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctggagcagccggacCgggtggacatgctgcaggag	18	10	0	0	rs138717943		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:38511541C>T	ENST00000254066.5	+	8	1494	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	RARA_ENST00000394081.3_Missense_Mutation_p.R342W|RARA_ENST00000425707.3_Missense_Mutation_p.R250W|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R347W|RARA_ENST00000394086.3_Missense_Mutation_p.R363W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	347	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCAGCCGGACCGGGTGGACAT	0.672			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL						OREG0024394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	0								ENSG00000131759						16	18	17					17																	38511541		2193	4286	6479	RARA	SO:0001583	missense	0			-	HGNC	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1039C>T	17.37:g.38511541C>T	ENSP00000254066:p.Arg347Trp	Somatic	0	154	0	878	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	78	15.22	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R347W	ENST00000254066.5	37	c.1039	CCDS11366.1	17	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641385	0.67244	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.35	-1.56	0.08532	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.097541	0.64402	D	0.000007	D	0.97371	0.9140	M	0.69523	2.12	0.27969	N	0.936473	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.68192	0.956;0.928;0.928	D	0.94967	0.8113	10	0.87932	D	0	.	18.3935	0.90491	0.2729:0.7271:0.0:0.0	.	250;342;347	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	W	347;250;347;363;342;340;234	ENSP00000254066:R347W;ENSP00000389993:R250W;ENSP00000377649:R347W;ENSP00000377648:R363W;ENSP00000377643:R342W	ENSP00000254066:R347W	R	+	1	2	RARA	35765067	0.929000	0.31497	0.067000	0.19924	0.676000	0.39594	3.379000	0.52440	-0.481000	0.06792	-0.274000	0.10170	CGG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt		0.672	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARA	protein_coding	OTTHUMT00000257136.2	C		-		38511541	1	no_errors	ENST00000254066	ensembl	human	known	74_37	missense	SNP	0.922	T	T	38511541	C	T	38511541	3	4	102	1	0	0	0	0	1	0	0	0	13060	643	23	1	1232	1	RARA	17	38511541	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1137140	38511541	42683669	592	6502											
KRTAP9-9	81870	genome.wustl.edu	37	chr17	39412008	39412008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacgactgtctgcctgcCtggttgcctcaaccagagct	10	16	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:39412008C>T	ENST00000394008.1	+	1	373	c.371C>T	c.(370-372)cCt>cTt	p.P124L		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	109	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCTGCCTGCCTGGTTGCCTC	0.632																																																	0								ENSG00000198083						175	182	180					17																	39412008		2203	4300	6503	KRTAP9-9	SO:0001583	missense	0			-	HGNC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.371C>T	17.37:g.39412008C>T	ENSP00000377576:p.Pro124Leu	Somatic	0	144	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	74	23.71	B5MDD6|Q9BYQ1	Missense_Mutation	SNP							NULL	p.P124L	ENST00000394008.1	37	c.371	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255191	0.59321	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.00864	5.6	2.88	1.9	0.25705	.	.	.	.	.	T	0.01627	0.0052	M	0.78916	2.43	0.29402	N	0.861847	B	0.22346	0.068	B	0.19666	0.026	T	0.14615	-1.0466	9	0.54805	T	0.06	.	5.5052	0.16850	0.0:0.8433:0.0:0.1567	.	109	Q9BYP9	KRA99_HUMAN	L	130;124	ENSP00000377576:P124L	ENSP00000377576:P124L	P	+	2	0	KRTAP9-9	36665534	0.520000	0.26250	0.236000	0.24074	0.469000	0.32828	0.490000	0.22403	0.788000	0.33755	0.456000	0.33151	CCT	-	NULL		0.632	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	protein_coding	OTTHUMT00000257710.1	C	NM_030975	-		39412008	1	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	SNP	0.769	T	T	39412008	C	T	39412008	3	4	102	1	0	0	0	0	1	0	0	0	8579	681	24	2	373	2	KRTAP9-9	17	39412008	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	900467	39412008	41783202	593	6503											
KRT33B	3884	genome.wustl.edu	37	chr17	39525831	39525831	+	Missense_Mutation	SNP	C	C	T													gttcaggaactgcatagtctCcttctcgctgccattgaagg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:39525831C>T	ENST00000251646.3	-	1	221	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	58	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCATAGTCTCCTTCTCGCTG	0.627																																																	0								ENSG00000131738						79	78	79					17																	39525831		2203	4300	6503	KRT33B	SO:0001583	missense	0			-	HGNC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.172G>A	17.37:g.39525831C>T	ENSP00000251646:p.Glu58Lys	Somatic	0	197	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	70	27.84	O76010	Missense_Mutation	SNP							pfam_IF,prints_Keratin_I	p.E58K	ENST00000251646.3	37	c.172	CCDS11389.1	17	.	.	.	.	.	.	.	.	.	.	N	22.3	4.268219	0.80469	.	.	ENSG00000131738	ENST00000251646	D	0.90004	-2.6	4.44	4.44	0.53790	Filament (1);	0.000000	0.64402	D	0.000004	D	0.94879	0.8345	M	0.91196	3.185	0.32280	N	0.567741	D	0.76494	0.999	D	0.79108	0.992	D	0.95096	0.8226	10	0.59425	D	0.04	.	11.7989	0.52116	0.1754:0.8246:0.0:0.0	.	58	Q14525	KT33B_HUMAN	K	58	ENSP00000251646:E58K	ENSP00000251646:E58K	E	-	1	0	KRT33B	36779357	0.499000	0.26083	1.000000	0.80357	0.979000	0.70002	0.302000	0.19192	2.467000	0.83353	0.650000	0.86243	GAG	-	pfam_IF		0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	protein_coding	OTTHUMT00000257292.1	C	NM_002279	-		39525831	-1	no_errors	ENST00000251646	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39525831	C	T	39525831	3	4	102	1	0	0	0	0	1	0	0	0	8472	864	30	2	1070	2	KRT33B	17	39525831	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	113823	39525831	41669379	594	6504	92	2									
KRT33B	3884	genome.wustl.edu	37	chr17	39525832	39525832	+	Silent	SNP	C	C	T													ttcaggaactgcatagtctcCttctcgctgccattgaagga							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:39525832C>T	ENST00000251646.3	-	1	220	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	57	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCATAGTCTCCTTCTCGCTGC	0.627																																																	0								ENSG00000131738						79	78	78					17																	39525832		2203	4300	6503	KRT33B	SO:0001819	synonymous_variant	0			-	HGNC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.171G>A	17.37:g.39525832C>T		Somatic	0	197	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	70	27.84	O76010	Silent	SNP							pfam_IF,prints_Keratin_I	p.K57	ENST00000251646.3	37	c.171	CCDS11389.1	17																																																																																			-	pfam_IF		0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	protein_coding	OTTHUMT00000257292.1	C	NM_002279	-		39525832	-1	no_errors	ENST00000251646	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39525832	C	T	39525832	2	4	102	1	0	0	0	0	0	0	0	1	8472	680	24	2		2	KRT33B	17	39525832	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	39525832	41669378	595	6505	92	2									
TTC25	83538	genome.wustl.edu	37	chr17	40095403	40095403	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgcagagccacagaaagGacctggagatcgccaaggaa	12	12	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:40095403G>A	ENST00000591658.1	+	0	1104							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CCACAGAAAGGACCTGGAGAT	0.582																																																	0								ENSG00000204815						40	44	43					17																	40095403		2076	4212	6288	TTC25			0			-	HGNC	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095403G>A		Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP							-	NULL	ENST00000591658.1	37	NULL		17																																																																																			-	-		0.582	TTC25-001	KNOWN	basic	processed_transcript	TTC25	processed_transcript	OTTHUMT00000449237.1	G	NM_031421	-		40095403	1	no_errors	ENST00000591658	ensembl	human	known	74_37	rna	SNP	1.000	A	A	40095403	G	A	40095403	1	1	102	0	1	0	0	0	0	0	0	0	16700	1174	41	2		2	TTC25	17	40095403	RNA	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	569571	40095403	41099807	596	6506											
KAT2A	2648	genome.wustl.edu	37	chr17	40273156	40273156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccccagtccctgtgctgCcggctggggctgcagctggg	16	16	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:40273156C>T	ENST00000225916.5	-	1	220	c.167G>A	c.(166-168)gGc>gAc	p.G56D	HSPB9_ENST00000355067.3_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	56					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGTGCTGCCggctggggc	0.756																																																	0								ENSG00000108773						1	2	1					17																	40273156		854	2124	2978	KAT2A	SO:0001583	missense	0			-	HGNC	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.167G>A	17.37:g.40273156C>T	ENSP00000225916:p.Gly56Asp	Somatic	0	20	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q8N1A2|Q9UCW1	Missense_Mutation	SNP							pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.G56D	ENST00000225916.5	37	c.167	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887729	0.52014	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	5.14	4.17	0.49024	.	0.490245	0.21853	N	0.068146	T	0.05640	0.0148	L	0.36672	1.1	0.41152	D	0.986036	B	0.15141	0.012	B	0.16289	0.015	T	0.34378	-0.9831	10	0.18710	T	0.47	-23.4945	10.2191	0.43186	0.0:0.9067:0.0:0.0933	.	56	Q92830	KAT2A_HUMAN	D	56	ENSP00000225916:G56D	ENSP00000225916:G56D	G	-	2	0	KAT2A	37526682	0.981000	0.34729	1.000000	0.80357	0.786000	0.44442	0.746000	0.26275	2.393000	0.81446	0.561000	0.74099	GGC	-	pirsf_Hist_acetylase_PCAF		0.756	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	protein_coding	OTTHUMT00000257458.1	C	NM_021078	-		40273156	-1	no_errors	ENST00000225916	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40273156	C	T	40273156	3	4	102	1	0	0	0	0	1	0	0	0	7983	739	26	2	2418	2	KAT2A	17	40273156	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	177753	40273156	40922054	597	6507											
CD300LG	146894	genome.wustl.edu	37	chr17	41931256	41931256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccattgccagggacttCccagtacgggcacgaaagga	11	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:41931256C>T	ENST00000317310.4	+	4	604	c.563C>T	c.(562-564)tCc>tTc	p.S188F	CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000377203.4_Missense_Mutation_p.S154F|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.S188F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	188					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGGGACTTCCCAGTACGGG	0.622																																																	0								ENSG00000161649						90	75	80					17																	41931256		2203	4300	6503	CD300LG	SO:0001583	missense	0			-	HGNC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.563C>T	17.37:g.41931256C>T	ENSP00000321005:p.Ser188Phe	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S188F	ENST00000317310.4	37	c.563	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603035	0.46423	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203	T;T;T	0.06608	3.3;3.28;3.57	3.81	2.84	0.33178	.	0.798476	0.10631	N	0.652128	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	D;D;P	0.58268	0.982;0.982;0.917	P;P;B	0.54889	0.763;0.571;0.367	T	0.16928	-1.0386	10	0.09843	T	0.71	.	7.3817	0.26859	0.0:0.8819:0.0:0.1181	.	154;188;188	F8W9M3;F5H7P9;Q6UXG3	.;.;CLM9_HUMAN	F	188;188;154	ENSP00000321005:S188F;ENSP00000442368:S188F;ENSP00000366408:S154F	ENSP00000321005:S188F	S	+	2	0	CD300LG	39286782	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	0.568000	0.23623	1.197000	0.43143	0.561000	0.74099	TCC	-	NULL		0.622	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	protein_coding	OTTHUMT00000457646.1	C	NM_145273	-		41931256	1	no_errors	ENST00000317310	ensembl	human	known	74_37	missense	SNP	0.004	T	T	41931256	C	T	41931256	3	4	102	1	0	0	0	0	1	0	0	0	3004	855	30	2	577	2	CD300LG	17	41931256	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1658100	41931256	39263954	598	6508											
ASB16	92591	genome.wustl.edu	37	chr17	42255007	42255007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgccaacttccctcggGccctggaagtcctgcttaat	9	15	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:42255007G>A	ENST00000293414.1	+	4	1177	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	365					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCCCTCGGGCCCTGGAAGT	0.597																																																	0								ENSG00000161664						181	124	143					17																	42255007		2203	4300	6503	ASB16	SO:0001583	missense	0			-	HGNC	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1093G>A	17.37:g.42255007G>A	ENSP00000293414:p.Ala365Thr	Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	B2RBC0|Q8WXK0	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A365T	ENST00000293414.1	37	c.1093	CCDS11478.1	17	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422587	0.25639	.	.	ENSG00000161664	ENST00000293414	T	0.61980	0.06	5.2	5.2	0.72013	.	0.055638	0.64402	D	0.000001	T	0.32224	0.0822	N	0.01705	-0.755	0.38227	D	0.94091	B	0.27765	0.188	B	0.29267	0.1	T	0.37641	-0.9697	10	0.15952	T	0.53	-17.9128	9.6222	0.39727	0.0922:0.0:0.9078:0.0	.	365	Q96NS5	ASB16_HUMAN	T	365	ENSP00000293414:A365T	ENSP00000293414:A365T	A	+	1	0	ASB16	39610533	0.792000	0.28813	1.000000	0.80357	0.997000	0.91878	2.604000	0.46274	2.709000	0.92574	0.491000	0.48974	GCC	-	NULL		0.597	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	protein_coding	OTTHUMT00000457703.1	G		-		42255007	1	no_errors	ENST00000293414	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42255007	G	A	42255007	3	1	102	1	0	0	0	0	1	0	0	0	1020	1203	42	2	1107	2	ASB16	17	42255007	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	323751	42255007	38940203	599	6509											
SKAP1	8631	genome.wustl.edu	37	chr17	46474066	46474066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgatttgctgaaagcccCgtagaatatggtctctgtga	10	8	1	4	rs112999194	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:46474066C>T	ENST00000336915.6	-	2	197	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	SKAP1_ENST00000584924.1_Missense_Mutation_p.R43Q	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	43					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTGAAAGCCCCGTAGAATATG	0.378																																																	0								ENSG00000141293	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150	157	154		128,128	3.5	0.9	17	dbSNP_132	154	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SKAP1	NM_001075099.1,NM_003726.3	43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	43/359,43/360	46474066	3,13003	2203	4300	6503	SKAP1	SO:0001583	missense	0			-	HGNC	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.128G>A	17.37:g.46474066C>T	ENSP00000338171:p.Arg43Gln	Somatic	0	57	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	D3DTV1|O15268	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R43Q	ENST00000336915.6	37	c.128	CCDS32674.1	17	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997820	0.54147	2.27E-4	2.33E-4	ENSG00000141293	ENST00000336915	T	0.32753	1.44	5.55	3.45	0.39498	.	0.455607	0.22131	N	0.064187	T	0.30386	0.0763	L	0.60455	1.87	0.19300	N	0.99998	P;D	0.63046	0.873;0.992	B;P	0.47299	0.208;0.543	T	0.29088	-1.0023	10	0.66056	D	0.02	-26.1358	3.73	0.08489	0.2386:0.5388:0.1384:0.0842	.	43;43	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	Q	43	ENSP00000338171:R43Q	ENSP00000338171:R43Q	R	-	2	0	SKAP1	43829065	0.017000	0.18338	0.907000	0.35723	0.978000	0.69477	0.667000	0.25112	1.354000	0.45846	0.305000	0.20034	CGG	-	NULL		0.378	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	protein_coding	OTTHUMT00000443432.1	C	NM_003726	rs112999194		46474066	-1	no_errors	ENST00000336915	ensembl	human	known	74_37	missense	SNP	0.332	T	T	46474066	C	T	46474066	3	4	102	1	0	0	0	0	1	0	0	0	14363	652	23	1	995	1	SKAP1	17	46474066	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4219059	46474066	34721144	600	6510											
CHAD	1101	genome.wustl.edu	37	chr17	48545985	48545985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaattggcagccagcaccgGgaagttgttgcgctgtaggt	15	9	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:48545985G>A	ENST00000508540.1	-	1	342	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.P64S|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	64					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCAGCACCGGGAAGTTGTTG	0.627																																																	0								ENSG00000136457						94	79	84					17																	48545985		2203	4300	6503	CHAD	SO:0001583	missense	0			-	HGNC	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.190C>T	17.37:g.48545985G>A	ENSP00000423812:p.Pro64Ser	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P64S	ENST00000508540.1	37	c.190	CCDS11568.1	17	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652225	0.29336	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.03801	3.8;3.8	4.31	4.31	0.51392	.	0.112602	0.64402	D	0.000010	T	0.01765	0.0056	N	0.00859	-1.14	0.46149	D	0.99889	B	0.30179	0.271	B	0.28305	0.088	T	0.52011	-0.8632	10	0.06757	T	0.87	.	16.9843	0.86336	0.0:0.0:1.0:0.0	.	64	O15335	CHAD_HUMAN	S	64	ENSP00000423812:P64S;ENSP00000258969:P64S	ENSP00000258969:P64S	P	-	1	0	CHAD	45900984	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.702000	0.84576	2.232000	0.73038	0.462000	0.41574	CCG	-	NULL		0.627	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAD	protein_coding	OTTHUMT00000367447.3	G	NM_001267	-		48545985	-1	no_errors	ENST00000258969	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48545985	G	A	48545985	3	1	102	1	0	0	0	0	1	0	0	0	3312	1232	43	2	901	2	CHAD	17	48545985	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2071919	48545985	32649225	601	6511											
MBTD1	54799	genome.wustl.edu	37	chr17	49279025	49279025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaatttcattccttccttGaaccattccccactctggtc	3	16	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:49279025G>A	ENST00000586178.1	-	12	1495	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	MBTD1_ENST00000376381.2_Silent_p.F384F|MBTD1_ENST00000415868.1_Silent_p.F384F	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	384					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCCTTCCTTGAACCATTCCC	0.299																																																	0								ENSG00000011258						164	172	169					17																	49279025		2203	4297	6500	MBTD1	SO:0001819	synonymous_variant	0			-	HGNC	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1152C>T	17.37:g.49279025G>A		Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q6ZVU7|Q9NXU1	Silent	SNP							pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.F384	ENST00000586178.1	37	c.1152	CCDS11581.2	17																																																																																			-	smart_Mbt,pfscan_Mbt		0.299	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	protein_coding	OTTHUMT00000318124.1	G		-		49279025	-1	no_errors	ENST00000415868	ensembl	human	known	74_37	silent	SNP	1.000	A	A	49279025	G	A	49279025	2	1	102	1	0	0	0	0	0	0	0	1	9362	1281	45	2		2	MBTD1	17	49279025	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	733040	49279025	31916185	602	6512											
KIF2B	84643	genome.wustl.edu	37	chr17	51902212	51902212	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattacccactctgttaggGaaggataccacaatttcagg	8	10	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:51902212G>A	ENST00000268919.4	+	1	1974	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	606					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						CTCTGTTAGGGAAGGATACCA	0.423																																																	0								ENSG00000141200						161	151	154					17																	51902212		2203	4300	6503	KIF2B	SO:0001819	synonymous_variant	0			-	HGNC	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.1818G>A	17.37:g.51902212G>A		Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q96MA2|Q9BXG6	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G606	ENST00000268919.4	37	c.1818	CCDS32685.1	17																																																																																			-	NULL		0.423	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	G	NM_032559	-		51902212	1	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	SNP	0.000	A	A	51902212	G	A	51902212	2	1	102	1	0	0	0	0	0	0	0	1	8300	1161	41	2		2	KIF2B	17	51902212	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2623187	51902212	29292998	603	6513											
KIF2B	84643	genome.wustl.edu	37	chr17	51902398	51902398	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttactagctgacctccacgtGaagagcaaggtagagtgaag	12	8	0	5	rs567529647	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:51902398G>A	ENST00000268919.4	+	1	2160	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	668					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						ACCTCCACGTGAAGAGCAAGG	0.433													G|||	2	0.000399361	0	0	5008	,	,		19360	0		0	False		,,,				2504	0.002																0								ENSG00000141200						50	50	50					17																	51902398		2203	4300	6503	KIF2B	SO:0001819	synonymous_variant	0			-	HGNC	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.2004G>A	17.37:g.51902398G>A		Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q96MA2|Q9BXG6	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V668	ENST00000268919.4	37	c.2004	CCDS32685.1	17																																																																																			-	NULL		0.433	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	G	NM_032559	-		51902398	1	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	SNP	0.345	A	A	51902398	G	A	51902398	2	1	102	1	0	0	0	0	0	0	0	1	8300	1277	45	2		2	KIF2B	17	51902398	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	186	51902398	29292812	604	6514											
EPX	8288	genome.wustl.edu	37	chr17	56281639	56281639	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagcgcaaggccctgagcaGaatttccttgtctcgaatta	9	11	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:56281639G>A	ENST00000225371.5	+	12	2113	c.2003G>A	c.(2002-2004)aGa>aAa	p.R668K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	668					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GCCCTGAGCAGAATTTCCTTG	0.507																																																	0								ENSG00000121053						114	101	105					17																	56281639		2203	4300	6503	EPX	SO:0001583	missense	0			-	HGNC	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2003G>A	17.37:g.56281639G>A	ENSP00000225371:p.Arg668Lys	Somatic	0	65	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	Q4TVP3	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R668K	ENST00000225371.5	37	c.2003	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342285	0.01277	.	.	ENSG00000121053	ENST00000225371	T	0.71461	-0.57	5.65	-8.79	0.00820	.	1.724340	0.03222	N	0.177791	T	0.43211	0.1237	N	0.01779	-0.725	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.59322	-0.7476	10	0.02654	T	1	0.2851	21.9545	0.99964	0.1473:0.0:0.8527:0.0	.	668	P11678	PERE_HUMAN	K	668	ENSP00000225371:R668K	ENSP00000225371:R668K	R	+	2	0	EPX	53636638	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.763000	0.04740	-1.754000	0.01321	-0.768000	0.03414	AGA	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.507	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	protein_coding	OTTHUMT00000443367.1	G	NM_000502	-		56281639	1	no_errors	ENST00000225371	ensembl	human	known	74_37	missense	SNP	0.000	A	A	56281639	G	A	56281639	3	1	102	1	0	0	0	0	1	0	0	0	5202	942	33	2	2049	2	EPX	17	56281639	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4379241	56281639	24913571	605	6515											
MPO	4353	genome.wustl.edu	37	chr17	56355503	56355503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgggggtcattgggcgGgatctgaggcacagagagag	20	6	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:56355503G>A	ENST00000225275.3	-	7	1065	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.P329S	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	297					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCATTGGGCGGGATCTGAGGC	0.627																																																	0								ENSG00000005381						63	62	62					17																	56355503		2203	4300	6503	MPO	SO:0001583	missense	0			-	HGNC		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.889C>T	17.37:g.56355503G>A	ENSP00000225275:p.Pro297Ser	Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P329S	ENST00000225275.3	37	c.985	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978971	0.92982	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74526	-0.85;-0.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88244	0.2912	10	0.87932	D	0	-16.3628	18.0012	0.89198	0.0:0.0:1.0:0.0	.	297	P05164	PERM_HUMAN	S	329;297	ENSP00000344419:P329S;ENSP00000225275:P297S	ENSP00000225275:P297S	P	-	1	0	MPO	53710502	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	9.813000	0.99286	2.518000	0.84900	0.561000	0.74099	CCG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	protein_coding	OTTHUMT00000443971.1	G		-		56355503	-1	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56355503	G	A	56355503	3	1	102	1	0	0	0	0	1	0	0	0	9734	1232	43	2	1372	2	MPO	17	56355503	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	73864	56355503	24839707	606	6516											
TBX4	9496	genome.wustl.edu	37	chr17	59543182	59543182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctcggctcccccaggaGgatgttccccagctacaagg	10	17	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:59543182G>A	ENST00000240335.1	+	3	329	c.284G>A	c.(283-285)aGg>aAg	p.R95K	TBX4_ENST00000393853.4_Missense_Mutation_p.R95K|RP11-15K2.2_ENST00000592766.1_RNA	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	95					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCCCCAGGAGGATGTTCCCC	0.567																																																	0								ENSG00000121075						140	123	129					17																	59543182		2203	4300	6503	TBX4	SO:0001583	missense	0			-	HGNC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.284G>A	17.37:g.59543182G>A	ENSP00000240335:p.Arg95Lys	Somatic	0	84	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R95K	ENST00000240335.1	37	c.284	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357403	0.82243	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.89681	-2.55;-2.55	5.26	5.26	0.73747	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.151916	0.56097	D	0.000028	D	0.94535	0.8240	M	0.82923	2.615	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.72625	0.978;0.978	D	0.94482	0.7694	9	.	.	.	.	16.407	0.83677	0.0:0.0:1.0:0.0	.	95;95	A5PKU7;P57082	.;TBX4_HUMAN	K	95	ENSP00000377435:R95K;ENSP00000240335:R95K	.	R	+	2	0	TBX4	56897964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.406000	0.97321	2.619000	0.88677	0.655000	0.94253	AGG	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.567	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	protein_coding	OTTHUMT00000449649.1	G	NM_018488	-		59543182	1	no_errors	ENST00000393853	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59543182	G	A	59543182	3	1	102	1	0	0	0	0	1	0	0	0	15667	1000	35	2	294	2	TBX4	17	59543182	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3187679	59543182	21652028	607	6517											
INTS2	57508	genome.wustl.edu	37	chr17	59945019	59945019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccagtgtccctggatcCatttttataagatgaatctt	7	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:59945019C>T	ENST00000444766.3	-	25	3589	c.3514G>A	c.(3514-3516)Gga>Aga	p.G1172R	INTS2_ENST00000251334.6_Missense_Mutation_p.G1164R	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1172					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCCCTGGATCCATTTTTATAA	0.348																																																	0								ENSG00000108506						71	70	71					17																	59945019		1836	4084	5920	INTS2	SO:0001583	missense	0			-	HGNC	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3514G>A	17.37:g.59945019C>T	ENSP00000414237:p.Gly1172Arg	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q9ULD3	Missense_Mutation	SNP							NULL	p.G1172R	ENST00000444766.3	37	c.3514	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067548	0.36470	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.43294	0.95	5.96	5.96	0.96718	.	0.282882	0.39020	N	0.001490	T	0.28928	0.0718	N	0.08118	0	0.31069	N	0.713235	P	0.39883	0.693	B	0.43082	0.407	T	0.18618	-1.0331	9	.	.	.	-15.783	14.8194	0.70059	0.1528:0.8472:0.0:0.0	.	1172	Q9H0H0	INT2_HUMAN	R	1172;1171	ENSP00000414237:G1172R	.	G	-	1	0	INTS2	57299801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.095000	0.50235	2.830000	0.97506	0.585000	0.79938	GGA	-	NULL		0.348	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	protein_coding	OTTHUMT00000445368.1	C	NM_020748	-		59945019	-1	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	SNP	1.000	T	T	59945019	C	T	59945019	3	4	102	1	0	0	0	0	1	0	0	0	7780	603	21	2	104	2	INTS2	17	59945019	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	401837	59945019	21250191	608	6518											
TANC2	26115	genome.wustl.edu	37	chr17	61498206	61498206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaccagcccagcccagcCgtccattcaagcaccgtcat	7	17	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	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																																																	0								ENSG00000170921						75	78	77					17																	61498206		2075	4216	6291	TANC2	SO:0001819	synonymous_variant	0			-	HGNC	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		Somatic	0	47	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	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		-		61498206	1	no_errors	ENST00000424789	ensembl	human	known	74_37	silent	SNP	0.183	T	T	61498206	C	T	61498206	2	4	102	1	0	0	0	0	0	0	0	1	15552	639	23	1		1	TANC2	17	61498206	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1553187	61498206	19697004	609	6519											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62851978	62851978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaatccttcttcatcTtcttgtaatgaccttcggtg	7	10	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:62851978T>G	ENST00000584306.1	-	13	5369	c.4839A>C	c.(4837-4839)gaA>gaC	p.E1613D	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1613D|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E651D|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E590D|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E731D	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1613						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTCTTCATCTTCTTGTAATG	0.373																																																	0								ENSG00000176809						119	129	126					17																	62851978		1511	2706	4217	LRRC37A3	SO:0001583	missense	0			-	HGNC	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4839A>C	17.37:g.62851978T>G	ENSP00000464535:p.Glu1613Asp	Somatic	0	139	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	50	20.63	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E1613D	ENST00000584306.1	37	c.4839	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	T	8.312	0.822274	0.16678	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.46451	0.87;0.87;0.87	1.67	1.67	0.24075	.	.	.	.	.	T	0.38374	0.1038	N	0.25647	0.755	0.09310	N	1	P;P	0.46912	0.882;0.886	B;P	0.57776	0.332;0.827	T	0.21552	-1.0242	9	0.15066	T	0.55	.	5.4345	0.16474	0.0:0.0:0.0:1.0	.	731;1613	B4DG20;O60309	.;L37A3_HUMAN	D	694;651;590;1613	ENSP00000383674:E651D;ENSP00000335617:E590D;ENSP00000325713:E1613D	ENSP00000325713:E1613D	E	-	3	2	LRRC37A3	60282440	0.000000	0.05858	0.005000	0.12908	0.103000	0.19146	-0.744000	0.04839	1.025000	0.39708	0.136000	0.15936	GAA	-	NULL		0.373	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	protein_coding	OTTHUMT00000445377.1	T	NM_199340	-		62851978	-1	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	SNP	0.013	G	G	62851978	T	G	62851978	3	3	102	1	0	0	0	0	1	0	0	0	8995	1606	56	5	73	5	LRRC37A3	17	62851978	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1353772	62851978	18343232	610	6520											
CACNG5	27091	genome.wustl.edu	37	chr17	64880855	64880855	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggagagtggggatgggGgagaagggacattccacaac	19	7	0	2	rs570069666		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:64880855G>A	ENST00000533854.1	+	5	807				CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000169565.3_Missense_Mutation_p.G216E			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGGGATGGGGGAGAAGGGAC	0.567													G|||	1	0.000199681	8e-04	0	5008	,	,		18080	0		0	False		,,,				2504	0																0								ENSG00000075429						104	96	99					17																	64880855		2203	4300	6503	CACNG5	SO:0001627	intron_variant	0			-	HGNC	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+77G>A	17.37:g.64880855G>A		Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.G216E	ENST00000533854.1	37	c.647	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112105	0.20795	.	.	ENSG00000075429	ENST00000169565	T	0.57436	0.4	2.78	-1.0	0.10196	.	0.570836	0.17593	U	0.168695	T	0.37705	0.1013	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26608	-1.0098	6	.	.	.	-5.2413	6.059	0.19826	0.4624:0.0:0.5376:0.0	.	.	.	.	E	216	ENSP00000169565:G216E	.	G	+	2	0	CACNG5	62311317	0.494000	0.26043	0.000000	0.03702	0.019000	0.09904	0.401000	0.20948	-0.228000	0.09869	0.508000	0.49915	GGG	-	NULL		0.567	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	protein_coding	OTTHUMT00000389882.1	G	NM_014404, NM_145811	-		64880855	1	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	SNP	0.005	A	A	64880855	G	A	64880855	1	1	102	0	1	0	0	0	0	0	0	0	2562	1232	43	2		2	CACNG5	17	64880855	Intron	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2028877	64880855	16314355	611	6521											
ABCA6	23460	genome.wustl.edu	37	chr17	67079022	67079022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgtctcacctttcctgCcctgcagcctgtgggaaaag	10	15	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:67079022C>T	ENST00000284425.2	-	36	4782	c.4608G>A	c.(4606-4608)ggG>ggA	p.G1536G	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1536					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACCTTTCCTGCCCTGCAGCCT	0.443																																																	0								ENSG00000154262						195	198	197					17																	67079022		2203	4300	6503	ABCA6	SO:0001819	synonymous_variant	0			-	HGNC	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4608G>A	17.37:g.67079022C>T		Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1536	ENST00000284425.2	37	c.4608	CCDS11683.1	17																																																																																			-	NULL		0.443	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	protein_coding	OTTHUMT00000450463.1	C	NM_080284	-		67079022	-1	no_errors	ENST00000284425	ensembl	human	known	74_37	silent	SNP	0.049	T	T	67079022	C	T	67079022	2	4	102	1	0	0	0	0	0	0	0	1	36	726	26	2		2	ABCA6	17	67079022	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2198167	67079022	14116188	612	6522											
UNC13D	201294	genome.wustl.edu	37	chr17	73839111	73839111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctcaagctccctgaccCgctgcagtgtctgctggtgc	10	15	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:73839111C>T	ENST00000207549.4	-	4	684	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.R102Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	102	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCCCTGACCCGCTGCAGTGT	0.706									Familial Hemophagocytic Lymphohistiocytosis																																								0								ENSG00000092929						28	31	30					17																	73839111		2203	4300	6503	UNC13D	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.305G>A	17.37:g.73839111C>T	ENSP00000207549:p.Arg102Gln	Somatic	0	23	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	B4DWG9|Q9H7K5	Missense_Mutation	SNP							pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R102Q	ENST00000207549.4	37	c.305	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724791	0.15439	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.39406	1.08;1.08	4.2	0.726	0.18248	C2 calcium/lipid-binding domain, CaLB (1);	0.907386	0.09273	N	0.824920	T	0.24275	0.0588	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.26849	-1.0091	10	0.21540	T	0.41	-3.4289	8.8675	0.35296	0.0:0.5344:0.0:0.4656	.	102	Q70J99	UN13D_HUMAN	Q	102	ENSP00000207549:R102Q;ENSP00000388093:R102Q	ENSP00000207549:R102Q	R	-	2	0	UNC13D	71350706	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-0.577000	0.05847	-0.133000	0.11537	0.561000	0.74099	CGG	-	superfamily_C2_dom		0.706	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	C	XM_113950	-		73839111	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	SNP	0.003	T	T	73839111	C	T	73839111	3	4	102	1	0	0	0	0	1	0	0	0	16994	652	23	1	3083	1	UNC13D	17	73839111	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6760089	73839111	7356099	613	6523											
EVPL	2125	genome.wustl.edu	37	chr17	74019442	74019442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcagcaccatcttctcGtacagggcacggtactccgc	13	14	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:74019442G>A	ENST00000301607.3	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y	EVPL_ENST00000586740.1_Silent_p.Y137Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	137	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCATCTTCTCGTACAGGGCAC	0.632																																																	0								ENSG00000167880						97	94	95					17																	74019442		2203	4300	6503	EVPL	SO:0001819	synonymous_variant	0			-	HGNC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.411C>T	17.37:g.74019442G>A		Somatic	0	109	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	A0AUV5	Silent	SNP							pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Y137	ENST00000301607.3	37	c.411	CCDS11737.1	17																																																																																			-	NULL		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	G	NM_001988	-		74019442	-1	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	SNP	0.322	A	A	74019442	G	A	74019442	2	1	102	1	0	0	0	0	0	0	0	1	5294	1140	40	1		1	EVPL	17	74019442	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	180331	74019442	7175768	614	6524											
RHBDF2	79651	genome.wustl.edu	37	chr17	74473267	74473267	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccccagcactcacagaggGatttgcaccccatcggggga	12	14	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:74473267G>A	ENST00000313080.4	-	8	1275	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	RHBDF2_ENST00000389760.4_Silent_p.I305I|RHBDF2_ENST00000591885.1_Silent_p.I305I|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	334					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						CTCACAGAGGGATTTGCACCC	0.652																																																	0								ENSG00000129667						20	23	22					17																	74473267		2203	4300	6503	RHBDF2	SO:0001819	synonymous_variant	0			-	HGNC	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.1002C>T	17.37:g.74473267G>A		Somatic	0	143	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP							pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.I334	ENST00000313080.4	37	c.1002	CCDS32743.1	17																																																																																			-	pfam_Rhomboid_SP		0.652	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	protein_coding	OTTHUMT00000450134.1	G	NM_024599	-		74473267	-1	no_errors	ENST00000313080	ensembl	human	known	74_37	silent	SNP	0.012	A	A	74473267	G	A	74473267	2	1	102	1	0	0	0	0	0	0	0	1	13328	1164	41	2		2	RHBDF2	17	74473267	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	453825	74473267	6721943	615	6525											
AFMID	125061	genome.wustl.edu	37	chr17	76201264	76201264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcatggggtcacgcccaaCctcagaggtttccatgggag	13	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:76201264C>T	ENST00000327898.5	+	7	567	c.558C>T	c.(556-558)aaC>aaT	p.N186N	AFMID_ENST00000409257.5_Silent_p.N186N|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TCACGCCCAACCTCAGAGGTT	0.617																																																	0								ENSG00000183077						29	31	30					17																	76201264		2203	4300	6503	AFMID	SO:0001819	synonymous_variant	0			-	HGNC	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.558C>T	17.37:g.76201264C>T		Somatic	0	102	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26		Silent	SNP							pfam_AB_hydrolase_3	p.N186	ENST00000327898.5	37	c.558	CCDS45801.1	17																																																																																			-	pfam_AB_hydrolase_3		0.617	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	protein_coding	OTTHUMT00000333203.1	C	XM_058889	-		76201264	1	no_errors	ENST00000327898	ensembl	human	known	74_37	silent	SNP	0.995	T	T	76201264	C	T	76201264	2	4	102	1	0	0	0	0	0	0	0	1	362	506	18	2		2	AFMID	17	76201264	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1727997	76201264	4993946	616	6526											
PGS1	9489	genome.wustl.edu	37	chr17	76399984	76399984	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggcactcgggctgagTaccagatcctgctggcctca	12	13	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:76399984T>A	ENST00000262764.6	+	7	1242	c.1216T>A	c.(1216-1218)Tac>Aac	p.Y406N	PGS1_ENST00000329897.7_Missense_Mutation_p.Y271N|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	406					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCGGGCTGAGTACCAGATCCT	0.617																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000087157						79	82	81					17																	76399984		1996	4148	6144	PGS1	SO:0001583	missense	0			-	HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1216T>A	17.37:g.76399984T>A	ENSP00000262764:p.Tyr406Asn	Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP							pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.Y406N	ENST00000262764.6	37	c.1216	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535537	0.85812	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	D;D	0.91740	-2.9;-2.9	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.93009	0.7775	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91878	0.5513	10	0.28530	T	0.3	-11.517	15.7604	0.78076	0.0:0.0:0.0:1.0	.	406	Q32NB8	PGPS1_HUMAN	N	406;271	ENSP00000262764:Y406N;ENSP00000330039:Y271N	ENSP00000262764:Y406N	Y	+	1	0	PGS1	73911579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.646000	0.83445	2.125000	0.65367	0.460000	0.39030	TAC	-	pirsf_PLipase-D_PtdSer-synthase-type		0.617	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	protein_coding	OTTHUMT00000437301.1	T	NM_024419	-		76399984	1	no_errors	ENST00000262764	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76399984	T	A	76399984	3	1	102	1	0	0	0	0	1	0	0	0	11810	1638	57	5	1242	5	PGS1	17	76399984	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	198720	76399984	4795226	617	6527											
RNF213	57674	genome.wustl.edu	37	chr17	78319813	78319813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgacaggctgggctccattCctctgaggcagctggtatac	12	13	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:78319813C>T	ENST00000582970.1	+	29	7821	c.7678C>T	c.(7678-7680)Cct>Tct	p.P2560S	RNF213_ENST00000336301.6_Missense_Mutation_p.P633S|RNF213_ENST00000508628.2_Missense_Mutation_p.P2609S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2560					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)			GGGCTCCATTCCTCTGAGGCA	0.562																																																	0								ENSG00000173821						55	51	52					17																	78319813		2203	4300	6503	RNF213	SO:0001583	missense	0			-	HGNC	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.7678C>T	17.37:g.78319813C>T	ENSP00000464087:p.Pro2560Ser	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P2560S	ENST00000582970.1	37	c.7678	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472856	0.43942	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.25912	1.91;1.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.83953	2.67	0.51233	D	0.999918	D	0.62365	0.991	D	0.70016	0.967	T	0.61594	-0.7031	10	0.72032	D	0.01	.	18.7595	0.91845	0.0:1.0:0.0:0.0	.	633	Q63HN8	RN213_HUMAN	S	2560;2609;633	ENSP00000425956:P2560S;ENSP00000338218:P633S	ENSP00000338218:P633S	P	+	1	0	RNF213	75934408	1.000000	0.71417	0.801000	0.32222	0.838000	0.47535	7.529000	0.81952	2.646000	0.89796	0.655000	0.94253	CCT	-	superfamily_P-loop_NTPase		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	C	NM_020914	-		78319813	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78319813	C	T	78319813	3	4	102	1	0	0	0	0	1	0	0	0	13485	855	30	2	8107	2	RNF213	17	78319813	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1919829	78319813	2875397	618	6528											
AZI1	22994	genome.wustl.edu	37	chr17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgggtccttaccggctctCggcagccttctcactctcct	10	17	3	0	rs577025986		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000450824.2_Missense_Mutation_p.E920K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		923					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													C|||	1	0.000199681	0	0	5008	,	,		13518	0.001		0	False		,,,				2504	0																2	Substitution - Missense(2)	urinary_tract(2)						ENSG00000141577						51	56	54					17																	79165000		2203	4300	6503	AZI1	SO:0001583	missense	0			-	HGNC																												ENST00000269392.4:c.2767G>A	17.37:g.79165000C>T	ENSP00000269392:p.Glu923Lys	Somatic	0	164	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	66	26.67	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP							superfamily_t-SNARE	p.E923K	ENST00000269392.4	37	c.2767		17	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519393	0.64634	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.29;2.34;2.29	5.15	4.18	0.49190	.	0.124400	0.52532	D	0.000062	T	0.34803	0.0910	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;0.973;0.973	P;D;B;B	0.67231	0.877;0.95;0.406;0.406	T	0.04178	-1.0971	10	0.27785	T	0.31	-20.5648	13.2217	0.59892	0.0:0.9231:0.0:0.0769	.	920;923;884;920	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	920;884;923	ENSP00000393583:E920K;ENSP00000363914:E884K;ENSP00000269392:E923K	ENSP00000269392:E923K	E	-	1	0	AZI1	76779595	1.000000	0.71417	0.796000	0.32109	0.024000	0.10985	7.355000	0.79434	1.161000	0.42604	0.591000	0.81541	GAG	-	NULL		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	protein_coding	OTTHUMT00000256070.1	C		-		79165000	-1	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	SNP	0.999	T	T	79165000	C	T	79165000	3	4	102	1	0	0	0	0	1	0	0	0	1240	893	31	1	504	1	AZI1	17	79165000	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	845187	79165000	2030210	619	6529											
NOTUM	147111	genome.wustl.edu	37	chr17	79911073	79911073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccttgtggctgtcatGgaggctcctgtcccagcagt	14	12	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:79911073G>A	ENST00000409678.3	-	11	1638	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	419						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGCTGTCATGGAGGCTCCTG	0.677																																																	0								ENSG00000185269						21	22	22					17																	79911073		2203	4297	6500	NOTUM	SO:0001583	missense	0			-	HGNC	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1255C>T	17.37:g.79911073G>A	ENSP00000387310:p.His419Tyr	Somatic	0	140	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	Q8N410|Q8NI82	Missense_Mutation	SNP							pfam_NOTUM	p.H419Y	ENST00000409678.3	37	c.1255	CCDS32771.2	17	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431743	0.62844	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.84	4.84	0.62591	.	0.285757	0.41001	D	0.000979	T	0.55800	0.1943	L	0.47716	1.5	0.54753	D	0.999989	P	0.51653	0.947	P	0.47827	0.558	T	0.52823	-0.8524	9	0.08837	T	0.75	.	17.9124	0.88938	0.0:0.0:1.0:0.0	.	419	Q6P988	NOTUM_HUMAN	Y	419	.	ENSP00000387310:H419Y	H	-	1	0	NOTUM	77504363	1.000000	0.71417	0.939000	0.37840	0.898000	0.52572	6.176000	0.71955	2.211000	0.71520	0.542000	0.68232	CAT	-	pfam_NOTUM		0.677	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	protein_coding	OTTHUMT00000335123.2	G	NM_178493	-		79911073	-1	no_errors	ENST00000409678	ensembl	human	known	74_37	missense	SNP	0.998	A	A	79911073	G	A	79911073	3	1	102	1	0	0	0	0	1	0	0	0	10554	1348	47	2	239	2	NOTUM	17	79911073	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	746073	79911073	1284137	620	6530											
KIAA0802	23255	genome.wustl.edu	37	chr18	8718544	8718544	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctaataaaaactgccgaatCctgcagtaccgtcttcggaa	8	11	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:8718544C>T	ENST00000306329.11	+	2	1176	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	SOGA2_ENST00000359865.3_Silent_p.I32I|SOGA2_ENST00000400050.3_Silent_p.I32I|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.I32I																							ACTGCCGAATCCTGCAGTACC	0.507																																																	0								ENSG00000168502						108	98	101					18																	8718544		2203	4300	6503	SOGA2	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000306329.11:c.1176C>T	18.37:g.8718544C>T		Somatic	0	67	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00		Silent	SNP							pfam_SOGA	p.I32	ENST00000306329.11	37	c.96		18																																																																																			-	NULL		0.507	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	protein_coding	OTTHUMT00000444141.1	C		-		8718544	1	no_errors	ENST00000359865	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8718544	C	T	8718544	2	4	102	1	0	0	0	0	0	0	0	1	8196	845	30	2		2	KIAA0802	18	8718544	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		8718544	69358704	621	6531											
LAMA3	3909	genome.wustl.edu	37	chr18	21526166	21526166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggatggactgagggcccGggagggaagtttgcctggaa	19	6	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:21526166G>A	ENST00000313654.9	+	70	9510	c.9269G>A	c.(9268-9270)cGg>cAg	p.R3090Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R1425Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R3034Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.R1481Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3090	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					CTGAGGGCCCGGGAGGGAAGT	0.493																																																	0								ENSG00000053747						112	93	99					18																	21526166		2203	4300	6503	LAMA3	SO:0001583	missense	0			-	HGNC	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.9269G>A	18.37:g.21526166G>A	ENSP00000324532:p.Arg3090Gln	Somatic	0	128	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	57	19.72	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R3090Q	ENST00000313654.9	37	c.9269	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453305	0.12283	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.76709	-1.04;-1.04;-1.04	5.14	-2.58	0.06228	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.52092	0.1713	N	0.04355	-0.22	0.09310	N	1	B;B;B;B	0.26845	0.01;0.013;0.06;0.161	B;B;B;B	0.17722	0.004;0.005;0.013;0.019	T	0.30621	-0.9972	9	0.19590	T	0.45	.	12.5233	0.56072	0.6398:0.0:0.3602:0.0	.	1425;1481;3034;3090	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Q	3090;3034;1481	ENSP00000324532:R3090Q;ENSP00000382432:R3034Q;ENSP00000269217:R1481Q	ENSP00000269217:R1481Q	R	+	2	0	LAMA3	19780164	0.004000	0.15560	0.314000	0.25224	0.944000	0.59088	-0.848000	0.04326	-0.326000	0.08564	-0.140000	0.14226	CGG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129	-		21526166	1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	SNP	0.005	A	A	21526166	G	A	21526166	3	1	102	1	0	0	0	0	1	0	0	0	8609	1116	39	1	9722	1	LAMA3	18	21526166	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	12807622	21526166	56551082	622	6532											
ZNF521	25925	genome.wustl.edu	37	chr18	22806847	22806847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatagcccaccgtgaccagGgaagggctgttgctgtgatt	14	9	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:22806847G>A	ENST00000361524.3	-	4	1183	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.S125S|ZNF521_ENST00000538137.2_Silent_p.S345S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	345					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGTGACCAGGGAAGGGCTGT	0.547			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						102	92	95					18																	22806847		2203	4300	6503	ZNF521	SO:0001819	synonymous_variant	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1035C>T	18.37:g.22806847G>A		Somatic	0	42	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S345	ENST00000361524.3	37	c.1035	CCDS32806.1	18																																																																																			-	NULL		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	G	NM_015461	-		22806847	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	silent	SNP	0.992	A	A	22806847	G	A	22806847	2	1	102	1	0	0	0	0	0	0	0	1	17972	1219	43	2		2	ZNF521	18	22806847	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1280681	22806847	55270401	623	6533											
DSG2	1829	genome.wustl.edu	37	chr18	29118894	29118894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactcctatgtgggcctggGacccgcagcaattgcgctca	12	13	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:29118894G>A	ENST00000261590.8	+	12	2041	c.1832G>A	c.(1831-1833)gGa>gAa	p.G611E		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	611					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)			GTGGGCCTGGGACCCGCAGCA	0.502																																																	0								ENSG00000046604						107	105	106					18																	29118894		2112	4240	6352	DSG2	SO:0001583	missense	0			-	HGNC	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.1832G>A	18.37:g.29118894G>A	ENSP00000261590:p.Gly611Glu	Somatic	0	36	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q4KKU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.G611E	ENST00000261590.8	37	c.1832	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442007	0.83993	.	.	ENSG00000046604	ENST00000261590	T	0.59502	0.26	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000011	T	0.81978	0.4937	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84597	0.0670	10	0.87932	D	0	.	19.9164	0.97064	0.0:0.0:1.0:0.0	.	611	Q14126	DSG2_HUMAN	E	611	ENSP00000261590:G611E	ENSP00000261590:G611E	G	+	2	0	DSG2	27372892	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	5.042000	0.64202	2.804000	0.96469	0.655000	0.94253	GGA	-	NULL		0.502	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	G	NM_001943	-		29118894	1	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29118894	G	A	29118894	3	1	102	1	0	0	0	0	1	0	0	0	4779	1174	41	2	1878	2	DSG2	18	29118894	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6312047	29118894	48958354	624	6534											
C18orf34	374864	genome.wustl.edu	37	chr18	30926242	30926242	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagtcaattttcatgttaatCatattctttcttgatctctg	5	7	6	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:30926242C>T	ENST00000383096.3	-	9	773	c.591G>A	c.(589-591)atG>atA	p.M197I	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.M197I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M197I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M197I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M197I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M197I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M197I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	197																	TCATGTTAATCATATTCTTTC	0.368																																																	0								ENSG00000166960						118	117	117					18																	30926242		2203	4300	6503	CCDC178	SO:0001583	missense	0			-	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.591G>A	18.37:g.30926242C>T	ENSP00000372576:p.Met197Ile	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP							NULL	p.M197I	ENST00000383096.3	37	c.591	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509113	0.04231	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.42900	2.56;2.56;2.56;2.55;2.56;0.96	5.59	-1.42	0.08913	.	.	.	.	.	T	0.27765	0.0683	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27765	0.031;0.188;0.188;0.188	B;B;B;B	0.24974	0.023;0.057;0.057;0.057	T	0.25257	-1.0137	9	0.52906	T	0.07	0.9812	4.9454	0.13987	0.5694:0.2184:0.0:0.2122	.	197;197;197;197	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	197	ENSP00000385591:M197I;ENSP00000372576:M197I;ENSP00000300227:M197I;ENSP00000385867:M197I;ENSP00000385234:M197I;ENSP00000382130:M197I	ENSP00000300227:M197I	M	-	3	0	C18orf34	29180240	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.325000	0.07976	0.021000	0.15133	0.557000	0.71058	ATG	-	NULL		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	C	NM_198995	-		30926242	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30926242	C	T	30926242	3	4	102	1	0	0	0	0	1	0	0	0	1904	826	29	2	2072	2	C18orf34	18	30926242	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1807348	30926242	47151006	625	6535											
SYT4	6860	genome.wustl.edu	37	chr18	40853563	40853563	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accctaacatttctcttgatGatctctctattcattaacat	2	11	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:40853563G>A	ENST00000255224.3	-	2	1199	c.831C>T	c.(829-831)atC>atT	p.I277I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.I259I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	277	Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCTCTTGATGATCTCTCTAT	0.294																																					NSCLC(85;81 1419 2855 22820 35912)												0								ENSG00000132872						31	33	32					18																	40853563		2153	4262	6415	SYT4	SO:0001819	synonymous_variant	0			-	HGNC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.831C>T	18.37:g.40853563G>A		Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	B4DEU3|Q9P2K4	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.I277	ENST00000255224.3	37	c.831	CCDS11922.1	18																																																																																			-	NULL		0.294	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	protein_coding	OTTHUMT00000255851.2	G	NM_020783	-		40853563	-1	no_errors	ENST00000255224	ensembl	human	known	74_37	silent	SNP	1.000	A	A	40853563	G	A	40853563	2	1	102	1	0	0	0	0	0	0	0	1	15483	1280	45	2		2	SYT4	18	40853563	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9927321	40853563	37223685	626	6536											
RPL17	6139	genome.wustl.edu	37	chr18	47015764	47015764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacctcctcttctggtttagGaacaatctgttccttttccg	6	12	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:47015764G>A	ENST00000418495.1	-	6	812	c.472C>T	c.(472-474)Cct>Tct	p.P158S	C18orf32_ENST00000318240.3_5'Flank|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.P120S|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000579408.1_Missense_Mutation_p.P158S|SNORD58C_ENST00000365223.1_RNA|MIR1539_ENST00000410758.1_RNA|RPL17-C18orf32_ENST00000584895.1_Missense_Mutation_p.P158S|C18orf32_ENST00000579820.1_5'Flank|C18orf32_ENST00000582392.1_5'Flank|RPL17_ENST00000579248.1_Missense_Mutation_p.P158S|SNORD58A_ENST00000383875.1_RNA|RPL17_ENST00000580261.1_Missense_Mutation_p.P158S|RPL17_ENST00000580210.1_Missense_Mutation_p.P148S|SNORD58B_ENST00000607313.1_RNA|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000581373.1_Missense_Mutation_p.P120S	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1	P18621	RL17_HUMAN	ribosomal protein L17	158					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)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|lung(3)	5						TCTGGTTTAGGAACAATCTGT	0.453																																																	0								ENSG00000215472						180	169	172					18																	47015764		1847	4088	5935	RPL17-C18orf32	SO:0001583	missense	0			-	HGNC	AB007174	CCDS45865.1, CCDS56070.1	18q21	2011-04-06				ENSG00000265681		"L ribosomal proteins"	10307	protein-coding gene	gene with protein product		603661				2402465, 9582194	Standard	NM_000985		Approved	rpL23, L17		P18621		ENST00000418495.1:c.472C>T	18.37:g.47015764G>A	ENSP00000397798:p.Pro158Ser	Somatic	0	140	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	B2R4H3|B4E3C2|B5ME31|J3QL51|Q3KQW2|Q6NZ54|Q7M4M5	Missense_Mutation	SNP							pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc	p.P158S	ENST00000418495.1	37	c.472	CCDS45865.1	18	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555578	0.65425	.	.	ENSG00000215472	ENST00000418495;ENST00000441578;ENST00000332968	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	T	0.73118	0.3546	M	0.87547	2.89	0.58432	D	0.999999	B;P	0.36282	0.303;0.546	B;B	0.37239	0.128;0.244	T	0.76321	-0.3002	8	0.38643	T	0.18	.	18.4295	0.90620	0.0:0.0:1.0:0.0	.	158;120	P18621;B4E3C2	RL17_HUMAN;.	S	158;158;120	.	ENSP00000352143:P120S	P	-	1	0	RPL17	45269762	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.308000	0.96247	2.437000	0.82529	0.650000	0.86243	CCT	-	NULL		0.453	RPL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL17-C18orf32	protein_coding	OTTHUMT00000447589.2	G	NM_000985	-		47015764	-1	no_errors	ENST00000584895	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47015764	G	A	47015764	3	1	102	1	0	0	0	0	1	0	0	0	13571	1174	41	2	90	2	RPL17	18	47015764	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6162201	47015764	31061484	627	6537											
DCC	1630	genome.wustl.edu	37	chr18	50683792	50683792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgtcttggtttccagccGatttgtccgtctcagctggc	10	14	2	0	rs200830938	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:50683792G>A	ENST00000442544.2	+	8	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_ENST00000581580.1_Missense_Mutation_p.R98Q|DCC_ENST00000412726.1_Missense_Mutation_p.R291Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	443	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R443Q(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTTCCAGCCGATTTGTCCGT	0.527													G|||	2	0.000399361	8e-04	0	5008	,	,		18055	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	prostate(1)|endometrium(1)						ENSG00000187323	G	GLN/ARG	0,4406		0,0,2203	163	148	153		1328	5.4	1	18		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCC	NM_005215.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	443/1448	50683792	1,13005	2203	4300	6503	DCC	SO:0001583	missense	0			GMAF=0.0005	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1328G>A	18.37:g.50683792G>A	ENSP00000389140:p.Arg443Gln	Somatic	0	121	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15		Missense_Mutation	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R443Q	ENST00000442544.2	37	c.1328	CCDS11952.1	18	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.21	3.330476	0.60743	0.0	1.16E-4	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57436	0.4;0.4	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.72882	0.3516	M	0.73319	2.225	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75569	-0.3272	10	0.87932	D	0	.	18.0448	0.89329	0.0:0.0:1.0:0.0	.	291;291;443	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	Q	443;376;291	ENSP00000389140:R443Q;ENSP00000397322:R291Q	ENSP00000304146:R376Q	R	+	2	0	DCC	48937790	1.000000	0.71417	0.979000	0.43373	0.729000	0.41735	8.879000	0.92398	2.567000	0.86603	0.561000	0.74099	CGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	rs200830938		50683792	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50683792	G	A	50683792	3	1	102	1	0	0	0	0	1	0	0	0	4284	1058	37	1	1358	1	DCC	18	50683792	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3668028	50683792	27393456	628	6538											
ATP8B1	5205	genome.wustl.edu	37	chr18	55328440	55328440	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtcattggccccatctccGatggccagcgtgatggcttt	11	13	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:55328440G>A	ENST00000283684.4	-	21	2672	c.2673C>T	c.(2671-2673)atC>atT	p.I891I	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.I891I			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	891					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCCCATCTCCGATGGCCAGCG	0.572																																																	0								ENSG00000081923						93	75	81					18																	55328440		2203	4300	6503	ATP8B1	SO:0001819	synonymous_variant	0			-	HGNC	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2673C>T	18.37:g.55328440G>A		Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	Q9BTP8	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I891	ENST00000283684.4	37	c.2673	CCDS11965.1	18																																																																																			-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase		0.572	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	protein_coding	OTTHUMT00000256097.1	G	NM_005603	-		55328440	-1	no_errors	ENST00000283684	ensembl	human	known	74_37	silent	SNP	0.477	A	A	55328440	G	A	55328440	2	1	102	1	0	0	0	0	0	0	0	1	1194	1048	37	1		1	ATP8B1	18	55328440	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4644648	55328440	22748808	629	6539											
CDH7	1005	genome.wustl.edu	37	chr18	63477063	63477063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgccaccaagagactggatCgtgaggagcaggcctactac	12	11	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:63477063C>T	ENST00000397968.2	+	3	760	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	CDH7_ENST00000536984.2_Missense_Mutation_p.R112C|CDH7_ENST00000323011.3_Missense_Mutation_p.R112C	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	112	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGACTGGATCGTGAGGAGCA	0.498																																																	0								ENSG00000081138						79	73	75					18																	63477063		2203	4300	6503	CDH7	SO:0001583	missense	0			-	HGNC	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.334C>T	18.37:g.63477063C>T	ENSP00000381058:p.Arg112Cys	Somatic	0	51	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	Q9H157	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R112C	ENST00000397968.2	37	c.334	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192492	0.78902	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59772	0.24;0.24;0.24	5.83	5.83	0.93111	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90103	0.4186	10	0.87932	D	0	.	20.1416	0.98058	0.0:1.0:0.0:0.0	.	112;112	F5H5X9;Q9ULB5	.;CADH7_HUMAN	C	112	ENSP00000319166:R112C;ENSP00000443030:R112C;ENSP00000381058:R112C	ENSP00000319166:R112C	R	+	1	0	CDH7	61628043	1.000000	0.71417	0.341000	0.25589	0.924000	0.55760	4.314000	0.59166	2.767000	0.95098	0.650000	0.86243	CGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.498	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	protein_coding	OTTHUMT00000256217.2	C	NM_033646	-		63477063	1	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63477063	C	T	63477063	3	4	102	1	0	0	0	0	1	0	0	0	3117	884	31	1	340	1	CDH7	18	63477063	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8148623	63477063	14600185	630	6540											
POLRMT	5442	genome.wustl.edu	37	chr19	621577	621577	+	Frame_Shift_Del	DEL	C	C	-													agcacgcgcccgttgacgcgCcaggcgcagttgcccagttg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:621577delC	ENST00000588649.2	-	10	2205	c.2121delG	c.(2119-2121)tggfs	p.W707fs	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	707					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CGTTGACGCGCCAGGCGCAGT	0.731																																																	0								ENSG00000099821						5	4	5					19																	621577		2018	3928	5946	POLRMT	SO:0001589	frameshift_variant	0				HGNC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2121delG	19.37:g.621577delC	ENSP00000465759:p.Trp707fs	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	O60370	Frame_Shift_Del	DEL							pfam_DNA-dir_Rpol_phage-type	p.W707fs	ENST00000588649.2	37	c.2121	CCDS12036.1	19																																																																																			-	NULL		0.731	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	protein_coding	OTTHUMT00000452172.3	C	NM_005035			621577	-1	no_errors	ENST00000588649	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	621577	C	-	621577	7	5	102	1	0	1	0	1	0	0	0	0	12240	740	26	0	1619	0	POLRMT	19	621577	Frame_Shift_Del	DEL	C	TCGA-DX-A8BP-01A-11D-A37C-09		621577	58507406	631	6541											
C19orf6	91304	genome.wustl.edu	37	chr19	1014286	1014286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccacggccaggcccgGgaagctcccgcggccgccgc	15	18	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:1014286G>A	ENST00000356663.3	-	2	533	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S	TMEM259_ENST00000333175.5_Missense_Mutation_p.P138S	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	138						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCCAGGCCCGGGAAGCTCCCG	0.637																																																	0								ENSG00000182087						38	40	40					19																	1014286		2200	4300	6500	TMEM259	SO:0001583	missense	0			-	HGNC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.412C>T	19.37:g.1014286G>A	ENSP00000349087:p.Pro138Ser	Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP							pfam_Membralin	p.P138S	ENST00000356663.3	37	c.412	CCDS32862.1	19	.	.	.	.	.	.	.	.	.	.	G	1.016	-0.686329	0.03328	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.06	1.84	0.25277	.	0.554908	0.17590	N	0.168804	T	0.28499	0.0705	L	0.43152	1.355	0.26014	N	0.981952	B;B	0.19817	0.017;0.039	B;B	0.18871	0.005;0.023	T	0.26224	-1.0109	9	0.09843	T	0.71	-5.8615	7.7419	0.28845	0.0945:0.1721:0.7334:0.0	.	138;138	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	S	138	.	ENSP00000331423:P138S	P	-	1	0	C19orf6	965286	1.000000	0.71417	0.926000	0.36857	0.062000	0.15995	3.616000	0.54174	0.352000	0.24053	0.462000	0.41574	CCG	-	pfam_Membralin		0.637	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM259	protein_coding	OTTHUMT00000458236.1	G	NM_033420	-		1014286	-1	no_errors	ENST00000356663	ensembl	human	known	74_37	missense	SNP	0.997	A	A	1014286	G	A	1014286	3	1	102	1	0	0	0	0	1	0	0	0	1943	1232	43	2	1490	2	C19orf6	19	1014286	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	392709	1014286	58114697	632	6542											
PCSK4	148223	genome.wustl.edu	37	chr19	1482406	1482406	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctgctggtcacctgggGgcctgtaggccgcgctgtca	16	14	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:1482406G>A	ENST00000436106.2	-	0	0				PCSK4_ENST00000300954.5_Missense_Mutation_p.P589S|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTCACCTGGGGGCCTGTAGGC	0.711																																																	0								ENSG00000115257						21	22	21					19																	1482406		2200	4299	6499	PCSK4	SO:0001631	upstream_gene_variant	0			-	HGNC	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482406G>A	Exception_encountered	Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	70	9.09	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.P589S	ENST00000436106.2	37	c.1765	CCDS45898.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.195076|2.195076	0.38806|0.38806	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|T	.|0.69561	.|-0.41	3.69|3.69	-0.52|-0.52	0.11935|0.11935	.|.	0.924705|0.924705	0.08773|0.08773	U|U	0.895919|0.895919	T|T	0.52386|0.52386	0.1731|0.1731	L|L	0.50333|0.50333	1.59|1.59	0.26109|0.26109	N|N	0.980715|0.980715	B|B	0.10296|0.16396	0.003|0.017	B|B	0.06405|0.09377	0.002|0.004	T|T	0.36744|0.36744	-0.9735|-0.9735	9|10	0.87932|0.26408	D|T	0|0.33	.|.	2.5627|2.5627	0.04776|0.04776	0.3079:0.0:0.4721:0.22|0.3079:0.0:0.4721:0.22	.|.	359|589	B3KQ28|Q6UW60	.|PCSK4_HUMAN	L|S	359|589	.|ENSP00000300954:P589S	ENSP00000402772:P359L|ENSP00000300954:P589S	P|P	-|-	2|1	0|0	PCSK4|PCSK4	1433406|1433406	0.004000|0.004000	0.15560|0.15560	0.917000|0.917000	0.36280|0.36280	0.050000|0.050000	0.14768|0.14768	-0.609000|-0.609000	0.05635|0.05635	0.230000|0.230000	0.21059|0.21059	-0.379000|-0.379000	0.06801|0.06801	CCC|CCC	-	NULL		0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCSK4	protein_coding	OTTHUMT00000449694.1	G	NM_152482	-		1482406	-1	no_errors	ENST00000300954	ensembl	human	known	74_37	missense	SNP	0.872	A	A	1482406	G	A	1482406	1	1	102	0	1	0	0	0	0	0	0	0	11604	1232	43	2		2	PCSK4	19	1482406	5'Flank	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	468120	1482406	57646577	633	6543											
ZNF555	148254	genome.wustl.edu	37	chr19	2850662	2850662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattctgctcagagggaCctctacagagatgtgatgct	12	9	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:2850662C>T	ENST00000334241.4	+	2	219	c.81C>T	c.(79-81)gaC>gaT	p.D27D	ZNF555_ENST00000591539.1_Silent_p.D27D|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	27	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTCAGAGGGACCTCTACAGAG	0.458																																																	0								ENSG00000186300						192	171	178					19																	2850662		2203	4300	6503	ZNF555	SO:0001819	synonymous_variant	0			-	HGNC	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.81C>T	19.37:g.2850662C>T		Somatic	0	115	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D27	ENST00000334241.4	37	c.81	CCDS12096.1	19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.458	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	protein_coding	OTTHUMT00000451637.3	C	NM_152791	-		2850662	1	no_errors	ENST00000334241	ensembl	human	known	74_37	silent	SNP	0.770	T	T	2850662	C	T	2850662	2	4	102	1	0	0	0	0	0	0	0	1	17993	506	18	2		2	ZNF555	19	2850662	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1368256	2850662	56278321	634	6544											
FZR1	51343	genome.wustl.edu	37	chr19	3526982	3526982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccccgctccacagtattCccttagcaccaagcgctcca	6	19	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:3526982C>T	ENST00000395095.3	+	5	392	c.392C>T	c.(391-393)tCc>tTc	p.S131F	FZR1_ENST00000441788.2_Missense_Mutation_p.S131F|FZR1_ENST00000313639.8_Intron	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	131					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACAGTATTCCCTTAGCACC	0.657																																																	0								ENSG00000105325						176	123	141					19																	3526982		2201	4297	6498	FZR1	SO:0001583	missense	0			-	HGNC	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.392C>T	19.37:g.3526982C>T	ENSP00000378529:p.Ser131Phe	Somatic	0	135	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S131F	ENST00000395095.3	37	c.392	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219117	0.58560	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.57907	0.37;0.52	3.72	3.72	0.42706	.	0.057664	0.64402	D	0.000001	T	0.55847	0.1946	M	0.67397	2.05	0.80722	D	1	B;P	0.43519	0.094;0.809	B;P	0.45232	0.2;0.474	T	0.60219	-0.7306	10	0.39692	T	0.17	-32.8754	14.6151	0.68541	0.0:1.0:0.0:0.0	.	131;131	Q9UM11;Q9UM11-2	FZR_HUMAN;.	F	131	ENSP00000410369:S131F;ENSP00000378529:S131F	ENSP00000378529:S131F	S	+	2	0	FZR1	3477982	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	7.416000	0.80143	2.094000	0.63399	0.555000	0.69702	TCC	-	NULL		0.657	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	protein_coding	OTTHUMT00000452869.2	C	NM_016263	-		3526982	1	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3526982	C	T	3526982	3	4	102	1	0	0	0	0	1	0	0	0	6140	855	30	2	410	2	FZR1	19	3526982	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	676320	3526982	55602001	635	6545											
C19orf29	58509	genome.wustl.edu	37	chr19	3624118	3624118	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggggggctccggctTcgcatccctgagcgctgcca	16	16	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:3624118T>A	ENST00000429344.2	-	2	262	c.210A>T	c.(208-210)cgA>cgT	p.R70R	CACTIN_ENST00000248420.5_Silent_p.R70R|CACTIN_ENST00000221899.3_Silent_p.R2R	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	70					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGCTCCGGCTTCGCATCCCTG	0.652																																																	0								ENSG00000105298						57	68	64					19																	3624118		1998	4103	6101	CACTIN	SO:0001819	synonymous_variant	0			-	HGNC	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.210A>T	19.37:g.3624118T>A		Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP							pfam_Cactin_dom,pfam_Cactin_C	p.R2	ENST00000429344.2	37	c.6	CCDS45920.1	19																																																																																			-	NULL		0.652	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	protein_coding	OTTHUMT00000457370.2	T		-		3624118	-1	no_errors	ENST00000221899	ensembl	human	known	74_37	silent	SNP	0.000	A	A	3624118	T	A	3624118	2	1	102	1	0	0	0	0	0	0	0	1	1920	1770	62	5		5	C19orf29	19	3624118	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	97136	3624118	55504865	636	6546											
TNFAIP8L1	126282	genome.wustl.edu	37	chr19	4652151	4652151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcgctgctgcggcgcttCcgccaccgggcgcgctgcct	15	18	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:4652151C>T	ENST00000536716.1	+	2	416	c.270C>T	c.(268-270)ttC>ttT	p.F90F	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Silent_p.F90F	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	90					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGCGCTTCCGCCACCGGG	0.697																																																	0								ENSG00000185361						24	25	25					19																	4652151		2155	4214	6369	TNFAIP8L1	SO:0001819	synonymous_variant	0			-	HGNC	BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.270C>T	19.37:g.4652151C>T		Somatic	0	109	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	D6W627	Silent	SNP							pfam_DUF758	p.F90	ENST00000536716.1	37	c.270	CCDS12132.1	19																																																																																			-	pfam_DUF758		0.697	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	protein_coding	OTTHUMT00000458662.1	C	NM_152362	-		4652151	1	no_errors	ENST00000327473	ensembl	human	known	74_37	silent	SNP	0.993	T	T	4652151	C	T	4652151	2	4	102	1	0	0	0	0	0	0	0	1	16284	854	30	2		2	TNFAIP8L1	19	4652151	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1028033	4652151	54476832	637	6547											
ACER1	125981	genome.wustl.edu	37	chr19	6307229	6307229	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagcagacggtcactgatCcagctggtcagagcaacagc	11	12	2	3	rs201079840		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:6307229C>T	ENST00000301452.4	-	5	638	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	187					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGTCACTGATCCAGCTGGTCA	0.562																																																	0								ENSG00000167769						92	88	90					19																	6307229		2203	4300	6503	ACER1	SO:0001587	stop_gained	0			-	HGNC	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.561G>A	19.37:g.6307229C>T	ENSP00000301452:p.Trp187*	Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05		Nonsense_Mutation	SNP							pfam_Ceramidase	p.W187*	ENST00000301452.4	37	c.561	CCDS12161.1	19	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852631	0.91355	.	.	ENSG00000167769	ENST00000301452	.	.	.	5.58	4.53	0.55603	.	0.055368	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4984	13.4746	0.61301	0.1578:0.8422:0.0:0.0	.	.	.	.	X	187	.	ENSP00000301452:W187X	W	-	3	0	ACER1	6258229	1.000000	0.71417	0.994000	0.49952	0.732000	0.41865	6.656000	0.74396	1.336000	0.45506	0.561000	0.74099	TGG	-	pfam_Ceramidase		0.562	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER1	protein_coding	OTTHUMT00000452982.1	C	NM_133492	-		6307229	-1	no_errors	ENST00000301452	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	6307229	C	T	6307229	4	4	102	1	0	0	0	0	0	1	0	0	138	856	30	2	241	2	ACER1	19	6307229	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1655078	6307229	52821754	638	6548											
TUBB4	10382	genome.wustl.edu	37	chr19	6495627	6495627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgccatcatgttcttggcatCgaacatctgctgggtgagct	11	11	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:6495627C>G	ENST00000264071.2	-	4	1254	c.883G>C	c.(883-885)Gat>Cat	p.D295H	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.D295H			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	295					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|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)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TTCTTGGCATCGAACATCTGC	0.682																																																	0								ENSG00000104833						60	58	59					19																	6495627		2203	4298	6501	TUBB4A	SO:0001583	missense	0			-	HGNC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.883G>C	19.37:g.6495627C>G	ENSP00000264071:p.Asp295His	Somatic	0	147	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	B3KQP4|Q969E5	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.D295H	ENST00000264071.2	37	c.883	CCDS12168.1	19	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431289	0.43122	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85258	-1.96;-1.96	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000001	D	0.91442	0.7299	H	0.97390	3.995	0.58432	D	0.999995	P	0.36712	0.566	B	0.41271	0.352	D	0.93740	0.7049	10	0.87932	D	0	.	14.2842	0.66235	0.0:1.0:0.0:0.0	.	295	P04350	TBB4A_HUMAN	H	295;295;213	ENSP00000264071:D295H;ENSP00000443590:D295H	ENSP00000264071:D295H	D	-	1	0	TUBB4	6446627	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	7.600000	0.82769	1.639000	0.50556	0.485000	0.47835	GAT	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin		0.682	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	protein_coding	OTTHUMT00000457841.1	C	NM_006087	-		6495627	-1	no_errors	ENST00000264071	ensembl	human	known	74_37	missense	SNP	1.000	G	G	6495627	C	G	6495627	3	3	102	1	0	0	0	0	1	0	0	0	16765	884	31	4	455	4	TUBB4	19	6495627	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	188398	6495627	52633356	639	6549											
EMR1	2015	genome.wustl.edu	37	chr19	6926613	6926613	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatggaatgcataatcgGtgagtgacatcctctctctt	10	9	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:6926613G>A	ENST00000312053.4	+	16	2259		c.e16+1		EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381407.5_Splice_Site|EMR1_ENST00000450315.3_Splice_Site	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGCATAATCGGTGAGTGACAT	0.507																																																	0								ENSG00000174837						140	113	123					19																	6926613		2203	4300	6503	EMR1	SO:0001630	splice_region_variant	0			-	HGNC	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2222+1G>A	19.37:g.6926613G>A		Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	24.39	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Splice_Site	SNP							-	e16+1	ENST00000312053.4	37	c.2222+1	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163010	0.57476	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9838	0.64321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EMR1	6877613	1.000000	0.71417	0.440000	0.26846	0.242000	0.25591	7.294000	0.78760	1.856000	0.53863	0.650000	0.86243	.	-	-		0.507	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	G		-	Intron	6926613	1	no_errors	ENST00000312053	ensembl	human	known	74_37	splice_site	SNP	0.996	A	A	6926613	G	A	6926613	5	1	102	1	0	0	0	0	0	0	1	0	5106	1275	44	2	2285	2	EMR1	19	6926613	Splice_Site	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	430986	6926613	52202370	640	6550											
FCER2	2208	genome.wustl.edu	37	chr19	7763242	7763242	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttgaccccttcatacCgttccgggcagccctctctt	6	19	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:7763242C>T	ENST00000346664.5	-	4	402	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	FCER2_ENST00000360067.4_Splice_Site_p.V63I|FCER2_ENST00000597921.1_Splice_Site_p.V64I	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	64					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCCTTCATACCGTTCCGGGCA	0.612																																																	0								ENSG00000104921						91	70	77					19																	7763242		2203	4300	6503	FCER2	SO:0001630	splice_region_variant	0			-	HGNC	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.190+1G>A	19.37:g.7763242C>T		Somatic	0	120	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	58	29.76		Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V64I	ENST00000346664.5	37	c.190	CCDS12184.1	19	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286637	0.40494	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.02682	4.2;4.27	4.24	4.24	0.50183	.	0.000000	0.33309	N	0.005055	T	0.09862	0.0242	L	0.50333	1.59	0.29639	N	0.844845	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.00742	-1.1585	9	.	.	.	.	12.4357	0.55598	0.0:1.0:0.0:0.0	.	63;64	P06734-2;P06734	.;FCER2_HUMAN	I	64;63	ENSP00000264072:V64I;ENSP00000353178:V63I	.	V	-	1	0	FCER2	7669242	0.915000	0.31059	0.946000	0.38457	0.125000	0.20455	1.742000	0.38248	2.650000	0.89964	0.655000	0.94253	GTC	-	NULL		0.612	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCER2	protein_coding	OTTHUMT00000461832.1	C	NM_002002	-	Missense_Mutation	7763242	-1	no_errors	ENST00000346664	ensembl	human	known	74_37	missense	SNP	0.955	T	T	7763242	C	T	7763242	5	4	102	1	0	0	0	0	0	0	1	0	5778	666	23	1	807	1	FCER2	19	7763242	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	836629	7763242	51365741	641	6551											
FBN3	84467	genome.wustl.edu	37	chr19	8188359	8188359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctacctgtgcagttcCgttcctgggcatccagggcg	13	14	0	0	rs151226812		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:8188359C>T	ENST00000600128.1	-	24	3485	c.3071G>A	c.(3070-3072)cGg>cAg	p.R1024Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R1024Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R1024Q			Q75N90	FBN3_HUMAN	fibrillin 3	1024	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGTGCAGTTCCGTTCCTGGGC	0.597																																																	0								ENSG00000142449	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	52	52	52		3071	2.4	0.6	19	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN3	NM_032447.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1024/2810	8188359	2,13004	2203	4300	6503	FBN3	SO:0001583	missense	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3071G>A	19.37:g.8188359C>T	ENSP00000470498:p.Arg1024Gln	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R1024Q	ENST00000600128.1	37	c.3071	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179158	0.38511	2.27E-4	1.16E-4	ENSG00000142449	ENST00000270509	D	0.91894	-2.93	3.48	2.43	0.29744	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.050882	0.85682	U	0.000000	D	0.91002	0.7170	M	0.63843	1.955	0.40734	D	0.98277	D	0.55800	0.973	P	0.49853	0.624	D	0.87589	0.2489	10	0.23891	T	0.37	.	10.7987	0.46476	0.0:0.9037:0.0:0.0963	.	1024	Q75N90	FBN3_HUMAN	Q	1024	ENSP00000270509:R1024Q	ENSP00000270509:R1024Q	R	-	2	0	FBN3	8094359	0.994000	0.37717	0.596000	0.28811	0.300000	0.27592	2.799000	0.47892	0.577000	0.29470	0.484000	0.47621	CGG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	C	NM_032447	rs151226812		8188359	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8188359	C	T	8188359	3	4	102	1	0	0	0	0	1	0	0	0	5706	652	23	1	5522	1	FBN3	19	8188359	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	425117	8188359	50940624	642	6552											
MYO1F	4542	genome.wustl.edu	37	chr19	8587306	8587306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcacgttgaagctcagctCgtccacatcttggcccacgt	9	14	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:8587306C>G	ENST00000338257.8	-	27	3442	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1059	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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						AAGCTCAGCTCGTCCACATCT	0.607																																																	0								ENSG00000142347						68	71	70					19																	8587306		2124	4218	6342	MYO1F	SO:0001583	missense	0			-	HGNC	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.3175G>C	19.37:g.8587306C>G	ENSP00000344871:p.Glu1059Gln	Somatic	0	72	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	Q8WWN7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.E1059Q	ENST00000338257.8	37	c.3175	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491264	0.84962	.	.	ENSG00000142347	ENST00000338257	T	0.64991	-0.13	5.5	5.5	0.81552	Src homology-3 domain (5);	.	.	.	.	T	0.81479	0.4831	M	0.89030	3	0.58432	D	0.999995	D	0.63880	0.993	D	0.67725	0.953	D	0.84641	0.0695	9	0.66056	D	0.02	.	15.5735	0.76356	0.0:0.8621:0.1379:0.0	.	1059	O00160	MYO1F_HUMAN	Q	1059	ENSP00000344871:E1059Q	ENSP00000344871:E1059Q	E	-	1	0	MYO1F	8493306	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.767000	0.85331	2.572000	0.86782	0.650000	0.86243	GAG	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	C		-		8587306	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	SNP	1.000	G	G	8587306	C	G	8587306	3	3	102	1	0	0	0	0	1	0	0	0	10075	893	31	4	129	4	MYO1F	19	8587306	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	398947	8587306	50541677	643	6553											
MUC16	94025	genome.wustl.edu	37	chr19	9066683	9066683	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagttgtatgccccatggtGgaggtggtatccattggagc	14	8	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:9066683G>T	ENST00000397910.4	-	3	20966	c.20763C>A	c.(20761-20763)tcC>tcA	p.S6921S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6923	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						GCCCCATGGTGGAGGTGGTAT	0.463																																																	0								ENSG00000181143						303	282	289					19																	9066683		2046	4204	6250	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.20763C>A	19.37:g.9066683G>T		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6921	ENST00000397910.4	37	c.20763	CCDS54212.1	19																																																																																			-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9066683	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	T	T	9066683	G	T	9066683	2	4	102	1	0	0	0	0	0	0	0	1	9975	1335	47	3		3	MUC16	19	9066683	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	479377	9066683	50062300	644	6554											
MUC16	94025	genome.wustl.edu	37	chr19	9076627	9076627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgtggaaattgttccagGagatcttgcaactttcaagt	9	7	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:9076627G>A	ENST00000397910.4	-	3	11022	c.10819C>T	c.(10819-10821)Cct>Tct	p.P3607S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3608	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						ATTGTTCCAGGAGATCTTGCA	0.448																																																	0								ENSG00000181143						169	173	172					19																	9076627		2011	4182	6193	MUC16	SO:0001583	missense	0			-	HGNC	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.10819C>T	19.37:g.9076627G>A	ENSP00000381008:p.Pro3607Ser	Somatic	0	86	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P3607S	ENST00000397910.4	37	c.10819	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.526	0.097637	0.08681	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	2.03	0.982	0.19762	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	.	.	.	D	0.71674	0.998	D	0.69479	0.964	T	0.40040	-0.9584	8	0.87932	D	0	.	4.2896	0.10872	0.205:0.0:0.795:0.0	.	3607	B5ME49	.	S	3607	ENSP00000381008:P3607S	ENSP00000381008:P3607S	P	-	1	0	MUC16	8937627	0.040000	0.19996	0.003000	0.11579	0.245000	0.25701	0.630000	0.24553	0.401000	0.25424	0.313000	0.20887	CCT	-	NULL		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9076627	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.004	A	A	9076627	G	A	9076627	3	1	102	1	0	0	0	0	1	0	0	0	9975	1174	41	2	33032	2	MUC16	19	9076627	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9944	9076627	50052356	645	6555											
ZNF846	162993	genome.wustl.edu	37	chr19	9868843	9868843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagggcttctttccactgtGgattcttgtatgatcagtaa	9	7	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:9868843G>T	ENST00000397902.2	-	6	1323	c.910C>A	c.(910-912)Cac>Aac	p.H304N	ZNF846_ENST00000592859.1_Missense_Mutation_p.H175N|ZNF846_ENST00000588267.1_Missense_Mutation_p.H175N|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	304					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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTCCACTGTGGATTCTTGTA	0.398																																																	0								ENSG00000196605						67	70	69					19																	9868843		2106	4249	6355	ZNF846	SO:0001583	missense	0			-	HGNC	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.910C>A	19.37:g.9868843G>T	ENSP00000380999:p.His304Asn	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A8K0H1|B3KUP1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H304N	ENST00000397902.2	37	c.910	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	22.2	4.252235	0.80135	.	.	ENSG00000196605	ENST00000397902	T	0.67345	-0.26	1.91	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83050	0.5170	M	0.91872	3.25	0.28728	N	0.902639	D	0.76494	0.999	D	0.79784	0.993	T	0.74247	-0.3727	8	.	.	.	.	9.9091	0.41394	0.0:0.0:1.0:0.0	.	304	Q147U1	ZN846_HUMAN	N	304	ENSP00000380999:H304N	.	H	-	1	0	ZNF846	9729843	1.000000	0.71417	0.010000	0.14722	0.806000	0.45545	3.527000	0.53517	1.397000	0.46682	0.456000	0.33151	CAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	protein_coding	OTTHUMT00000450253.1	G	NM_001077624	-		9868843	-1	no_errors	ENST00000397902	ensembl	human	known	74_37	missense	SNP	0.999	T	T	9868843	G	T	9868843	3	4	102	1	0	0	0	0	1	0	0	0	18199	1348	47	3	695	3	ZNF846	19	9868843	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	792216	9868843	49260140	646	6556											
COL5A3	50509	genome.wustl.edu	37	chr19	10083624	10083624	+	Missense_Mutation	SNP	G	G	A													tttggctccatcctctccagGgggacctttcttgcctgggg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10083624G>A	ENST00000264828.3	-	51	3830	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1249	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)			TCCTCTCCAGGGGGACCTTTC	0.592																																																	0								ENSG00000080573						38	31	33					19																	10083624		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.3745C>T	19.37:g.10083624G>A	ENSP00000264828:p.Pro1249Ser	Somatic	0	154	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	62	20.51	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P1249S	ENST00000264828.3	37	c.3745	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933873	0.52866	.	.	ENSG00000080573	ENST00000264828	D	0.93307	-3.2	4.73	3.7	0.42460	.	0.077061	0.52532	U	0.000066	D	0.90338	0.6977	M	0.63843	1.955	0.48901	D	0.999722	B	0.29988	0.264	B	0.23852	0.049	D	0.88346	0.2978	10	0.51188	T	0.08	.	10.7218	0.46044	0.0933:0.0:0.9067:0.0	.	1249	P25940	CO5A3_HUMAN	S	1249	ENSP00000264828:P1249S	ENSP00000264828:P1249S	P	-	1	0	COL5A3	9944624	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	4.848000	0.62874	1.222000	0.43521	-0.258000	0.10820	CCT	-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10083624	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.920	A	A	10083624	G	A	10083624	3	1	102	1	0	0	0	0	1	0	0	0	3700	1232	43	2	1560	2	COL5A3	19	10083624	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	214781	10083624	49045359	647	6557	93	2									
COL5A3	50509	genome.wustl.edu	37	chr19	10083625	10083625	+	Silent	SNP	G	G	A													ttggctccatcctctccaggGggacctttcttgcctggggg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10083625G>A	ENST00000264828.3	-	51	3829	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1248	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)			CCTCTCCAGGGGGACCTTTCT	0.592																																																	0								ENSG00000080573						39	32	34					19																	10083625		2203	4300	6503	COL5A3	SO:0001819	synonymous_variant	0			-	HGNC	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.3744C>T	19.37:g.10083625G>A		Somatic	0	152	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	19.74	Q9NZQ6	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P1248	ENST00000264828.3	37	c.3744	CCDS12222.1	19																																																																																			-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10083625	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	SNP	0.239	A	A	10083625	G	A	10083625	2	1	102	1	0	0	0	0	0	0	0	1	3700	1219	43	2		2	COL5A3	19	10083625	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	10083625	49045358	648	6558	93	2									
ICAM1	3383	genome.wustl.edu	37	chr19	10394296	10394296	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccgtggggagaaggagctGaaacgggagccagctgtggg	19	8	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10394296G>A	ENST00000264832.3	+	3	796	c.471G>A	c.(469-471)ctG>ctA	p.L157L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	157	Ig-like C2-type 2.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGAAGGAGCTGAAACGGGAGC	0.652																																																	0								ENSG00000090339						28	30	29					19																	10394296		2203	4300	6503	ICAM1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.471G>A	19.37:g.10394296G>A		Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	B2R6M3|Q5NKV7|Q96B50	Silent	SNP							pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.L157	ENST00000264832.3	37	c.471	CCDS12231.1	19																																																																																			-	prints_ICAM_VCAM_N		0.652	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	protein_coding	OTTHUMT00000451207.1	G		-		10394296	1	no_errors	ENST00000264832	ensembl	human	known	74_37	silent	SNP	0.696	A	A	10394296	G	A	10394296	2	1	102	1	0	0	0	0	0	0	0	1	7481	1277	45	2		2	ICAM1	19	10394296	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	310671	10394296	48734687	649	6559											
PDE4A	5141	genome.wustl.edu	37	chr19	10572584	10572584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatgtccaagcacatgaCcctcctggctgacctgaaga	10	13	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10572584C>T	ENST00000352831.6	+	13	1762	c.1652C>T	c.(1651-1653)aCc>aTc	p.T551I	PDE4A_ENST00000344979.3_Missense_Mutation_p.T312I|PDE4A_ENST00000380702.2_Missense_Mutation_p.T529I|PDE4A_ENST00000440014.2_Missense_Mutation_p.T490I|PDE4A_ENST00000293683.5_Missense_Mutation_p.T525I|PDE4A_ENST00000592685.1_Missense_Mutation_p.T529I	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	551	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGCACATGACCCTCCTGGCT	0.637																																																	0								ENSG00000065989						104	88	93					19																	10572584		2203	4300	6503	PDE4A	SO:0001583	missense	0			-	HGNC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1652C>T	19.37:g.10572584C>T	ENSP00000270474:p.Thr551Ile	Somatic	0	154	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	67	26.09	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.T551I	ENST00000352831.6	37	c.1652	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319659	0.60524	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	3.73	2.61	0.31194	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097875	0.64402	D	0.000002	T	0.70727	0.3257	L	0.39566	1.225	0.42695	D	0.993593	B;D;D;P;P	0.63880	0.384;0.98;0.993;0.751;0.885	B;P;P;B;P	0.58013	0.085;0.795;0.831;0.387;0.522	T	0.73350	-0.4010	10	0.87932	D	0	.	9.0302	0.36254	0.0:0.6221:0.3779:0.0	.	217;312;490;525;551	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	I	529;551;525;490;312;217	ENSP00000370078:T529I;ENSP00000270474:T551I;ENSP00000293683:T525I;ENSP00000394754:T490I;ENSP00000341007:T312I	ENSP00000293683:T525I	T	+	2	0	PDE4A	10433584	0.912000	0.30974	1.000000	0.80357	0.995000	0.86356	0.789000	0.26886	1.936000	0.56123	0.484000	0.47621	ACC	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	protein_coding	OTTHUMT00000451244.1	C		-		10572584	1	no_errors	ENST00000352831	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10572584	C	T	10572584	3	4	102	1	0	0	0	0	1	0	0	0	11641	507	18	2	2159	2	PDE4A	19	10572584	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	178288	10572584	48556399	650	6560											
ACP5	54	genome.wustl.edu	37	chr19	11687292	11687292	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcaggctgctggctgagGaagtcatctgagttgccaca	12	11	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:11687292G>A	ENST00000592828.1	-	6	903	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ACP5_ENST00000412435.2_Silent_p.F167F|ACP5_ENST00000218758.5_Silent_p.F167F|ACP5_ENST00000433365.2_Silent_p.F167F|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	167					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|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 nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GCTGGCTGAGGAAGTCATCTG	0.582																																																	0								ENSG00000102575						64	64	64					19																	11687292		2203	4300	6503	ACP5	SO:0001819	synonymous_variant	0			-	HGNC	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.501C>T	19.37:g.11687292G>A		Somatic	0	120	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Silent	SNP							pfam_PEstase_dom	p.F167	ENST00000592828.1	37	c.501	CCDS12265.1	19																																																																																			-	pfam_PEstase_dom		0.582	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	protein_coding	OTTHUMT00000458881.1	G		-		11687292	-1	no_errors	ENST00000218758	ensembl	human	known	74_37	silent	SNP	0.919	A	A	11687292	G	A	11687292	2	1	102	1	0	0	0	0	0	0	0	1	164	1165	41	2		2	ACP5	19	11687292	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1114708	11687292	47441691	651	6561											
ZNF433	163059	genome.wustl.edu	37	chr19	12129029	12129029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcatcacatctctacagaGatttttctgggaaggatcca	8	9	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:12129029G>A	ENST00000344980.6	-	2	261	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_3'UTR|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_5'UTR|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	31	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)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCTCTACAGAGATTTTTCTGG	0.438																																																	0								ENSG00000197647						68	72	70					19																	12129029		2199	4299	6498	ZNF433	SO:0001583	missense	0			-	HGNC	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.91C>T	19.37:g.12129029G>A	ENSP00000339767:p.Leu31Phe	Somatic	0	98	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	31.15	Q86VX3	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L31F	ENST00000344980.6	37	c.91	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550522	0.65311	.	.	ENSG00000197647	ENST00000344980;ENST00000550507;ENST00000455504;ENST00000478765;ENST00000550745;ENST00000411841	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	1.03	1.03	0.20045	Krueppel-associated box (4);	.	.	.	.	T	0.26593	0.0650	H	0.96175	3.78	0.26837	N	0.968469	D	0.76494	0.999	D	0.83275	0.996	T	0.04307	-1.0961	9	0.62326	D	0.03	.	5.4574	0.16598	0.0:0.0:1.0:0.0	.	31	Q8N7K0	ZN433_HUMAN	F	31;28;42;42;30;70	ENSP00000339767:L31F;ENSP00000448099:L28F;ENSP00000414857:L42F;ENSP00000447951:L42F;ENSP00000447205:L30F;ENSP00000407475:L70F	ENSP00000339767:L31F	L	-	1	0	ZNF433	11990029	0.195000	0.23338	0.524000	0.27887	0.822000	0.46500	0.605000	0.24179	0.851000	0.35264	0.306000	0.20318	CTC	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	protein_coding	OTTHUMT00000403716.1	G	NM_152602	-		12129029	-1	no_errors	ENST00000344980	ensembl	human	known	74_37	missense	SNP	0.850	A	A	12129029	G	A	12129029	3	1	102	1	0	0	0	0	1	0	0	0	17914	942	33	2	1942	2	ZNF433	19	12129029	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	441737	12129029	46999954	652	6562											
NACC1	112939	genome.wustl.edu	37	chr19	13247128	13247128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcaagacctggcgtctctCccggctgaacttatcaacca	9	15	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:13247128C>T	ENST00000292431.4	+	3	1155	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	343					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGCGTCTCTCCCGGCTGAAC	0.652																																																	0								ENSG00000160877						77	74	75					19																	13247128		2203	4300	6503	NACC1	SO:0001819	synonymous_variant	0			-	HGNC	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1029C>T	19.37:g.13247128C>T		Somatic	0	101	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65		Silent	SNP							pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L343	ENST00000292431.4	37	c.1029	CCDS12294.1	19																																																																																			-	NULL		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	protein_coding	OTTHUMT00000452879.1	C	NM_052876	-		13247128	1	no_errors	ENST00000292431	ensembl	human	known	74_37	silent	SNP	0.497	T	T	13247128	C	T	13247128	2	4	102	1	0	0	0	0	0	0	0	1	10137	842	30	2		2	NACC1	19	13247128	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1118099	13247128	45881855	653	6563											
MRI1	81576	genome.wustl.edu	37	chr19	13875884	13875884	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgttgcagcccgggaggCcgaacgggagggcgctacgg	19	10	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:13875884C>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.A111V|MRI1_ENST00000040663.6_Missense_Mutation_p.A111V			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GCCCGGGAGGCCGAACGGGAG	0.642																																																	0								ENSG00000037757						12	13	13					19																	13875884		2103	4067	6170	MRI1	SO:0001628	intergenic_variant	0			-	HGNC	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875884C>T		Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q9BQ72	Missense_Mutation	SNP							pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.A111V	ENST00000586600.1	37	c.332	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112562	0.37242	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.92752	-3.1;-3.1	5.29	4.26	0.50523	.	0.244803	0.41823	D	0.000819	D	0.88325	0.6406	L	0.52364	1.645	0.32371	N	0.555791	B;B	0.31705	0.336;0.037	B;B	0.32090	0.075;0.14	D	0.87078	0.2164	10	0.27082	T	0.32	-35.7025	11.6776	0.51438	0.0:0.9134:0.0:0.0866	.	111;111	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	V	111	ENSP00000040663:A111V;ENSP00000314871:A111V	ENSP00000040663:A111V	A	+	2	0	MRI1	13736884	1.000000	0.71417	0.856000	0.33681	0.007000	0.05969	2.671000	0.46842	1.241000	0.43820	-0.148000	0.13756	GCC	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d		0.642	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	protein_coding	OTTHUMT00000453216.2	C	NM_030818	-		13875884	1	no_errors	ENST00000040663	ensembl	human	known	74_37	missense	SNP	0.991	T	T	13875884	C	T	13875884	1	4	102	0	1	0	0	0	0	0	0	0	9772	739	26	2		2	MRI1	19	13875884	IGR	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	628756	13875884	45253099	654	6564											
C19orf53	28974	genome.wustl.edu	37	chr19	13888893	13888893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcggaatccggaagaagAtcgaacatgacgtggtgatg	14	6	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:13888893A>C	ENST00000588234.1	+	3	491	c.181A>C	c.(181-183)Atc>Ctc	p.I61L	C19orf53_ENST00000593274.1_Missense_Mutation_p.I18L	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	61										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CCGGAAGAAGATCGAACATGA	0.592																																																	0								ENSG00000104979						114	111	112					19																	13888893		2203	4300	6503	C19orf53	SO:0001583	missense	0			-	HGNC	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.181A>C	19.37:g.13888893A>C	ENSP00000465432:p.Ile61Leu	Somatic	0	94	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	B2R4J9	Missense_Mutation	SNP							pfam_UPF0390	p.I61L	ENST00000588234.1	37	c.181	CCDS12298.1	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296743	0.81025	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	.	.	.	0.48762	D	0.999701	D	0.58620	0.983	D	0.73708	0.981	T	0.80482	-0.1363	8	0.66056	D	0.02	.	12.3548	0.55169	1.0:0.0:0.0:0.0	.	61	Q9UNZ5	L10K_HUMAN	L	61	.	ENSP00000221576:I61L	I	+	1	0	C19orf53	13749893	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	6.654000	0.74387	1.814000	0.52955	0.397000	0.26171	ATC	-	pfam_UPF0390		0.592	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf53	protein_coding	OTTHUMT00000453621.1	A	NM_014047	-		13888893	1	no_errors	ENST00000588234	ensembl	human	known	74_37	missense	SNP	1.000	C	C	13888893	A	C	13888893	3	2	102	1	0	0	0	0	1	0	0	0	1937	333	12	5	191	5	C19orf53	19	13888893	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	13009	13888893	45240090	655	6565											
C19orf57	79173	genome.wustl.edu	37	chr19	14000987	14000987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttggccaccgtcacctgGaaccctgtctgtctcaggct	9	15	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:14000987G>A	ENST00000586783.1	-	5	681	c.682C>T	c.(682-684)Cca>Tca	p.P228S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P228S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.P228S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	228					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCGTCACCTGGAACCCTGTCT	0.612																																																	0								ENSG00000132016						146	126	133					19																	14000987		2203	4300	6503	C19orf57	SO:0001583	missense	0			-	HGNC	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.682C>T	19.37:g.14000987G>A	ENSP00000465822:p.Pro228Ser	Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP							NULL	p.P228S	ENST00000586783.1	37	c.682		19	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896135	0.33442	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.31769	1.48;1.48	3.44	1.04	0.20106	.	.	.	.	.	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	B;B	0.28713	0.22;0.22	B;B	0.27076	0.076;0.076	T	0.20042	-1.0287	9	0.41790	T	0.15	1.1305	4.1399	0.10188	0.1389:0.2442:0.6169:0.0	.	228;228	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	S	228	ENSP00000404382:P228S;ENSP00000254336:P228S	ENSP00000254336:P228S	P	-	1	0	C19orf57	13861987	0.000000	0.05858	0.020000	0.16555	0.035000	0.12851	0.027000	0.13621	0.770000	0.33336	0.491000	0.48974	CCA	-	NULL		0.612	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	protein_coding	OTTHUMT00000457947.1	G	NM_024323	-		14000987	-1	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	SNP	0.011	A	A	14000987	G	A	14000987	3	1	102	1	0	0	0	0	1	0	0	0	1941	1174	41	2	1243	2	C19orf57	19	14000987	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	112094	14000987	45127996	656	6566											
CYP4F8	11283	genome.wustl.edu	37	chr19	15739173	15739173	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagagcctgcggttgcatCccccaatccctacattcgcc	9	16	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:15739173C>T	ENST00000441682.2	+	0	1238							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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCGGTTGCATCCCCCAATCCC	0.612																																																	0								ENSG00000186526						77	86	83					19																	15739173		2203	4300	6503	CYP4F8			0			-	HGNC	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.15739173C>T		Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50		RNA	SNP							-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	14.05	2.418567	0.42918	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	3.45	0.39498	.	0.230079	0.37261	U	0.002175	T	0.51517	0.1679	.	.	.	0.33192	D	0.551045	P;P	0.39424	0.502;0.673	B;B	0.43950	0.437;0.437	T	0.66897	-0.5807	7	0.49607	T	0.09	.	12.4524	0.55684	0.0:1.0:0.0:0.0	.	205;393	B4DU85;P98187	.;CP4F8_HUMAN	S	392;205;242	.	ENSP00000314398:P205S	P	+	1	0	CYP4F8	15600173	0.945000	0.32115	0.080000	0.20451	0.018000	0.09664	1.323000	0.33701	1.753000	0.51906	0.543000	0.68304	CCC	-	-		0.612	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	processed_transcript		C	NM_007253	-		15739173	1	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	SNP	0.978	T	T	15739173	C	T	15739173	1	4	102	0	1	0	0	0	0	0	0	0	4193	855	30	2		2	CYP4F8	19	15739173	RNA	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1738186	15739173	43389810	657	6567											
RAB8A	4218	genome.wustl.edu	37	chr19	16222762	16222762	+	Silent	SNP	G	G	A													ctgctgctgatcggggactcGggggtggggaagacctgtgt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:16222762G>A	ENST00000300935.3	+	1	324	c.51G>A	c.(49-51)tcG>tcA	p.S17S	RAB8A_ENST00000586682.1_Silent_p.S17S|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	17					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TCGGGGACTCGGGGGTGGGGA	0.602																																																	0								ENSG00000167461						168	171	170					19																	16222762		2203	4300	6503	RAB8A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.51G>A	19.37:g.16222762G>A		Somatic	0	193	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	80	19.19	B4DEK7|P24407|Q6FHV5	Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S17	ENST00000300935.3	37	c.51	CCDS12339.1	19																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.602	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	protein_coding	OTTHUMT00000460186.1	G	NM_005370	-		16222762	1	no_errors	ENST00000300935	ensembl	human	known	74_37	silent	SNP	1.000	A	A	16222762	G	A	16222762	2	1	102	1	0	0	0	0	0	0	0	1	12964	1103	39	1		1	RAB8A	19	16222762	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	483589	16222762	42906221	658	6568	94	2									
RAB8A	4218	genome.wustl.edu	37	chr19	16222763	16222763	+	Missense_Mutation	SNP	G	G	A													tgctgctgatcggggactcgGgggtggggaagacctgtgtc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:16222763G>A	ENST00000300935.3	+	1	325	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	RAB8A_ENST00000586682.1_Missense_Mutation_p.G18R|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	18					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CGGGGACTCGGGGGTGGGGAA	0.602																																																	0								ENSG00000167461						168	171	170					19																	16222763		2203	4300	6503	RAB8A	SO:0001583	missense	0			-	HGNC		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.52G>A	19.37:g.16222763G>A	ENSP00000300935:p.Gly18Arg	Somatic	0	190	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	78	20.41	B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G18R	ENST00000300935.3	37	c.52	CCDS12339.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.353768	0.95830	.	.	ENSG00000167461	ENST00000300935	D	0.83419	-1.72	4.54	4.54	0.55810	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.92453	0.5971	10	0.87932	D	0	.	16.7905	0.85588	0.0:0.0:1.0:0.0	.	18;18;13	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	R	18	ENSP00000300935:G18R	ENSP00000300935:G18R	G	+	1	0	RAB8A	16083763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.326000	0.79133	2.516000	0.84829	0.491000	0.48974	GGG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.602	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	protein_coding	OTTHUMT00000460186.1	G	NM_005370	-		16222763	1	no_errors	ENST00000300935	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16222763	G	A	16222763	3	1	102	1	0	0	0	0	1	0	0	0	12964	1232	43	2	54	2	RAB8A	19	16222763	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	16222763	42906220	659	6569	94	2									
MYO9B	4650	genome.wustl.edu	37	chr19	17306023	17306023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacagcagggtcagcccaCcggcccctggcagcgccccc	13	19	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17306023C>T	ENST00000594824.1	+	22	3934	c.3787C>T	c.(3787-3789)Ccg>Tcg	p.P1263S	MYO9B_ENST00000595618.1_Missense_Mutation_p.P1263S|MYO9B_ENST00000397274.2_Missense_Mutation_p.P1263S			Q13459	MYO9B_HUMAN	myosin IXB	1263	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGTCAGCCCACCGGCCCCTGG	0.682																																																	0								ENSG00000099331						13	18	17					19																	17306023		1880	4095	5975	MYO9B	SO:0001583	missense	0			-	HGNC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3787C>T	19.37:g.17306023C>T	ENSP00000471367:p.Pro1263Ser	Somatic	0	208	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.P1263S	ENST00000594824.1	37	c.3787		19	.	.	.	.	.	.	.	.	.	.	C	5.694	0.312629	0.10789	.	.	ENSG00000099331	ENST00000397274	D	0.83419	-1.72	3.92	1.67	0.24075	.	1.567800	0.04023	N	0.300069	T	0.75228	0.3821	L	0.40543	1.245	0.09310	N	1	B;B;B	0.25007	0.116;0.116;0.094	B;B;B	0.16722	0.014;0.014;0.016	T	0.55263	-0.8168	10	0.21014	T	0.42	.	6.954	0.24560	0.0:0.655:0.2331:0.1119	.	1263;1263;1269	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1263	ENSP00000380444:P1263S	ENSP00000380444:P1263S	P	+	1	0	MYO9B	17167023	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.056000	0.11787	0.381000	0.24851	0.561000	0.74099	CCG	-	NULL		0.682	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	protein_coding	OTTHUMT00000463236.1	C		-		17306023	1	no_errors	ENST00000594824	ensembl	human	known	74_37	missense	SNP	0.001	T	T	17306023	C	T	17306023	3	4	102	1	0	0	0	0	1	0	0	0	10087	507	18	2	3869	2	MYO9B	19	17306023	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1083260	17306023	41822960	660	6570											
USHBP1	83878	genome.wustl.edu	37	chr19	17362811	17362811	+	Missense_Mutation	SNP	G	G	A													aatgccactggtgccaccagGgacagcaggaaggccctaag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17362811G>A	ENST00000252597.3	-	11	1881	c.1708C>T	c.(1708-1710)Cct>Tct	p.P570S	AC010646.3_ENST00000594059.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.P506S	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTGCCACCAGGGACAGCAGGA	0.597																																																	0								ENSG00000130307						28	20	23					19																	17362811		2155	4176	6331	USHBP1	SO:0001583	missense	0			-	HGNC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1708C>T	19.37:g.17362811G>A	ENSP00000252597:p.Pro570Ser	Somatic	0	92	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27		Missense_Mutation	SNP							pfam_USH1C-bd_PDZ_domain	p.P570S	ENST00000252597.3	37	c.1708	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	G	4.085	0.013693	0.07959	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.16597	2.33;2.33	2.91	0.767	0.18482	.	1.135970	0.06759	N	0.781453	T	0.10035	0.0246	L	0.36672	1.1	0.09310	N	1	B;B	0.33694	0.421;0.028	B;B	0.24701	0.055;0.007	T	0.29941	-0.9995	10	0.09590	T	0.72	0.0043	4.7376	0.12995	0.304:0.0:0.696:0.0	.	506;570	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	S	570;506	ENSP00000252597:P570S;ENSP00000407902:P506S	ENSP00000252597:P570S	P	-	1	0	USHBP1	17223811	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.177000	0.16801	0.283000	0.22279	0.561000	0.74099	CCT	-	NULL		0.597	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	protein_coding	OTTHUMT00000463328.1	G	NM_031941	-		17362811	-1	no_errors	ENST00000252597	ensembl	human	known	74_37	missense	SNP	0.000	A	A	17362811	G	A	17362811	3	1	102	1	0	0	0	0	1	0	0	0	17044	1232	43	2	415	2	USHBP1	19	17362811	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	56788	17362811	41766172	661	6571	95	2									
USHBP1	83878	genome.wustl.edu	37	chr19	17362812	17362812	+	Silent	SNP	G	G	A													atgccactggtgccaccaggGacagcaggaaggccctaagg							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17362812G>A	ENST00000252597.3	-	11	1880	c.1707C>T	c.(1705-1707)gtC>gtT	p.V569V	AC010646.3_ENST00000594059.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.V505V	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGCCACCAGGGACAGCAGGAA	0.592																																																	0								ENSG00000130307						28	20	23					19																	17362812		2156	4174	6330	USHBP1	SO:0001819	synonymous_variant	0			-	HGNC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1707C>T	19.37:g.17362812G>A		Somatic	0	90	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27		Silent	SNP							pfam_USH1C-bd_PDZ_domain	p.V569	ENST00000252597.3	37	c.1707	CCDS12353.1	19																																																																																			-	NULL		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	protein_coding	OTTHUMT00000463328.1	G	NM_031941	-		17362812	-1	no_errors	ENST00000252597	ensembl	human	known	74_37	silent	SNP	0.000	A	A	17362812	G	A	17362812	2	1	102	1	0	0	0	0	0	0	0	1	17044	1161	41	2		2	USHBP1	19	17362812	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	17362812	41766171	662	6572	95	2									
JAK3	3718	genome.wustl.edu	37	chr19	17950351	17950351	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catctacgtgcagccccccaTcccagcaggttgccaggagc	10	17	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17950351T>A	ENST00000527670.1	-	9	1405	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	JAK3_ENST00000534444.1_Missense_Mutation_p.D459V|JAK3_ENST00000458235.1_Missense_Mutation_p.D459V|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	459	SH2; atypical.				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)			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)	CAGCCCCCCATCCCAGCAGGT	0.627		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0								ENSG00000105639						37	30	33					19																	17950351		2202	4300	6502	JAK3	SO:0001583	missense	0			-	HGNC	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.1376A>T	19.37:g.17950351T>A	ENSP00000432511:p.Asp459Val	Somatic	0	49	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	18.75	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D459V	ENST00000527670.1	37	c.1376	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	2.776	-0.254547	0.05829	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.24538	1.85;1.85;1.85	3.7	1.41	0.22369	SH2 motif (2);	1.148760	0.06236	N	0.689558	T	0.14960	0.0361	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.34015	0.435;0.038;0.018	B;B;B	0.29353	0.101;0.039;0.021	T	0.26087	-1.0113	10	0.30078	T	0.28	-0.8943	4.6135	0.12415	0.0:0.3026:0.0:0.6974	.	459;459;459	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	V	459	ENSP00000391676:D459V;ENSP00000432511:D459V;ENSP00000436421:D459V	ENSP00000413248:D459V	D	-	2	0	JAK3	17811351	0.001000	0.12720	0.011000	0.14972	0.078000	0.17371	0.627000	0.24506	0.496000	0.27904	0.374000	0.22700	GAT	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	protein_coding	OTTHUMT00000385549.1	T	NM_000215	-		17950351	-1	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	SNP	0.012	A	A	17950351	T	A	17950351	3	1	102	1	0	0	0	0	1	0	0	0	7941	1435	50	5	2058	5	JAK3	19	17950351	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	587539	17950351	41178632	663	6573											
ZNF257	113835	genome.wustl.edu	37	chr19	22256325	22256325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagcaaggaaaagagcCctgtaatatgaagagacatg	12	6	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:22256325C>T	ENST00000594947.1	+	3	329	c.185C>T	c.(184-186)cCc>cTc	p.P62L	ZNF257_ENST00000600162.1_Missense_Mutation_p.P62L	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	62	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)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGAAAAGAGCCCTGTAATATG	0.443																																																	0								ENSG00000197134						143	156	151					19																	22256325		2203	4300	6503	ZNF257	SO:0001583	missense	0			-	HGNC	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.185C>T	19.37:g.22256325C>T	ENSP00000470209:p.Pro62Leu	Somatic	0	100	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P62L	ENST00000594947.1	37	c.185	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902853	0.17760	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	0.86	0.19042	Krueppel-associated box (2);	.	.	.	.	T	0.36496	0.0969	L	0.61036	1.89	0.09310	N	0.999999	B	0.28971	0.229	B	0.29524	0.103	T	0.36311	-0.9753	8	0.59425	D	0.04	.	4.9378	0.13950	0.0:1.0:0.0:0.0	.	62	Q9Y2Q1	ZN257_HUMAN	L	62	.	ENSP00000380312:P62L	P	+	2	0	ZNF257	22048165	0.097000	0.21791	0.102000	0.21198	0.103000	0.19146	0.362000	0.20284	0.300000	0.22699	0.306000	0.20318	CCC	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.443	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	protein_coding	OTTHUMT00000464382.1	C		-		22256325	1	no_errors	ENST00000594947	ensembl	human	known	74_37	missense	SNP	0.124	T	T	22256325	C	T	22256325	3	4	102	1	0	0	0	0	1	0	0	0	17807	623	22	2	195	2	ZNF257	19	22256325	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4305974	22256325	36872658	664	6574											
ZNF676	163223	genome.wustl.edu	37	chr19	22362861	22362861	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttctctccagtatgaattCtcttgtgtctagtaaggctt	8	8	3	1	rs201300029	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:22362861C>T	ENST00000397121.2	-	3	1975	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	553					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.R553I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000196109						64	67	66					19																	22362861		2121	4254	6375	ZNF676	SO:0001583	missense	0			-	HGNC	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1658G>A	19.37:g.22362861C>T	ENSP00000380310:p.Arg553Lys	Somatic	0	26	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	A8MVX5	Missense_Mutation	SNP							pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R553K	ENST00000397121.2	37	c.1658	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540247	0.04053	.	.	ENSG00000196109	ENST00000397121	T	0.18338	2.22	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.04387	-0.21	0.21675	N	0.999592	B	0.30664	0.289	B	0.28991	0.097	T	0.28933	-1.0028	9	0.30078	T	0.28	.	7.768	0.28991	0.3982:0.6018:0.0:0.0	.	553	Q8N7Q3	ZN676_HUMAN	K	553	ENSP00000380310:R553K	ENSP00000380310:R553K	R	-	2	0	ZNF676	22154701	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.989000	0.03736	-2.950000	0.00293	-2.994000	0.00078	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	C	NM_001001411	-		22362861	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	SNP	0.885	T	T	22362861	C	T	22362861	3	4	102	1	0	0	0	0	1	0	0	0	18090	913	32	2	112	2	ZNF676	19	22362861	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	106536	22362861	36766122	665	6575											
ZNF681	148213	genome.wustl.edu	37	chr19	23927344	23927344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagtatgaattat	6	8	3	1	rs112856587	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:23927344T>G	ENST00000402377.3	-	4	1149	c.1008A>C	c.(1006-1008)aaA>aaC	p.K336N	ZNF681_ENST00000395385.3_Missense_Mutation_p.K267N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	336					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.K336K(1)|p.K267K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTGTAGGGTTTCTCTCCAG	0.403																																																	2	Substitution - coding silent(2)	prostate(2)						ENSG00000196172						88	91	90					19																	23927344		2203	4298	6501	ZNF681	SO:0001583	missense	0			-	HGNC	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1008A>C	19.37:g.23927344T>G	ENSP00000384000:p.Lys336Asn	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	B3KVF7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K336N	ENST00000402377.3	37	c.1008	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	12.41	1.928756	0.34002	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.26067	1.76;1.76	0.946	-0.332	0.12675	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40743	0.1129	M	0.64080	1.96	0.25157	N	0.990387	D	0.89917	1.0	D	0.85130	0.997	T	0.20974	-1.0259	9	0.87932	D	0	.	4.2632	0.10750	0.0:0.2516:0.0:0.7484	.	336	Q96N22	ZN681_HUMAN	N	336;267	ENSP00000384000:K336N;ENSP00000378783:K267N	ENSP00000378783:K267N	K	-	3	2	ZNF681	23719184	0.021000	0.18746	0.010000	0.14722	0.006000	0.05464	-0.208000	0.09371	-0.172000	0.10779	0.260000	0.18958	AAA	-	pfscan_Znf_C2H2		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	protein_coding	OTTHUMT00000320248.2	T	NM_138286	-		23927344	-1	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	SNP	0.970	G	G	23927344	T	G	23927344	3	3	102	1	0	0	0	0	1	0	0	0	18095	1722	60	5	933	5	ZNF681	19	23927344	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1564483	23927344	35201639	666	6576											
SLC7A9	11136	genome.wustl.edu	37	chr19	33353370	33353370	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcccgtgggtcaccttGggccaggagcaccagcccgc	12	18	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:33353370G>A	ENST00000023064.4	-	5	792	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	SLC7A9_ENST00000587772.1_Nonsense_Mutation_p.Q201*|SLC7A9_ENST00000590341.1_Nonsense_Mutation_p.Q201*|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	201					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGTCACCTTGGGCCAGGAGC	0.642																																					GBM(181;1335 2108 9644 44178 46689)												0								ENSG00000021488						66	58	61					19																	33353370		2203	4300	6503	SLC7A9	SO:0001587	stop_gained	0			-	HGNC	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.601C>T	19.37:g.33353370G>A	ENSP00000023064:p.Gln201*	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B2R9A6	Nonsense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.Q201*	ENST00000023064.4	37	c.601	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.370919	0.97511	.	.	ENSG00000021488	ENST00000023064	.	.	.	5.37	5.37	0.77165	.	0.046925	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.464	0.94931	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000023064:Q201X	Q	-	1	0	SLC7A9	38045210	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.640000	0.61368	2.686000	0.91538	0.561000	0.74099	CAA	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.642	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	G		-		33353370	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	33353370	G	A	33353370	4	1	102	1	0	0	0	0	0	1	0	0	14713	1357	47	2	898	2	SLC7A9	19	33353370	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9426026	33353370	25775613	667	6577											
ZNF599	148103	genome.wustl.edu	37	chr19	35251226	35251226	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccttaagcccagactatcAtctggctccaaatcatcatg	5	14	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:35251226A>C	ENST00000329285.8	-	4	853	c.480T>G	c.(478-480)gaT>gaG	p.D160E		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	160					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCAGACTATCATCTGGCTCCA	0.448																																																	0								ENSG00000153896						143	141	142					19																	35251226		2203	4300	6503	ZNF599	SO:0001583	missense	0			-	HGNC	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.480T>G	19.37:g.35251226A>C	ENSP00000333802:p.Asp160Glu	Somatic	0	112	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03	Q569K0|Q5PRG1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D160E	ENST00000329285.8	37	c.480	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	A	0	-2.719723	0.00092	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22134	1.97	2.43	1.4	0.22301	.	.	.	.	.	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	B	0.27498	0.18	B	0.19946	0.027	T	0.35773	-0.9775	9	0.09590	T	0.72	.	5.718	0.17970	0.8532:0.0:0.1468:0.0	.	160	Q96NL3	ZN599_HUMAN	E	159;160	ENSP00000333802:D160E	ENSP00000333802:D160E	D	-	3	2	ZNF599	39943066	0.000000	0.05858	0.005000	0.12908	0.109000	0.19521	0.591000	0.23969	0.374000	0.24650	0.402000	0.26972	GAT	-	NULL		0.448	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	protein_coding	OTTHUMT00000460648.2	A	XM_086046	-		35251226	-1	no_errors	ENST00000329285	ensembl	human	known	74_37	missense	SNP	0.001	C	C	35251226	A	C	35251226	3	2	102	1	0	0	0	0	1	0	0	0	18036	214	8	5	1290	5	ZNF599	19	35251226	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	1897856	35251226	23877757	668	6578											
FAM187B	148109	genome.wustl.edu	37	chr19	35715857	35715857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccttgagcacggagtcCgccctgccccgcagggcctt	12	18	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:35715857C>T	ENST00000324675.3	-	2	1029	c.981G>A	c.(979-981)gcG>gcA	p.A327A		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	327						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCACGGAGTCCGCCCTGCCCC	0.682																																																	0								ENSG00000177558						33	34	34					19																	35715857		2203	4300	6503	FAM187B	SO:0001819	synonymous_variant	0			-	HGNC	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.981G>A	19.37:g.35715857C>T		Somatic	0	109	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q8N7G6	Silent	SNP							NULL	p.A327	ENST00000324675.3	37	c.981	CCDS12448.1	19																																																																																			-	NULL		0.682	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	protein_coding	OTTHUMT00000378854.1	C	NM_152481	-		35715857	-1	no_errors	ENST00000324675	ensembl	human	known	74_37	silent	SNP	0.000	T	T	35715857	C	T	35715857	2	4	102	1	0	0	0	0	0	0	0	1	5515	639	23	1		1	FAM187B	19	35715857	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	464631	35715857	23413126	669	6579											
ZNF529	57711	genome.wustl.edu	37	chr19	37047081	37047081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagcatgaggagctccatgGacatgatccccaatgaaact	9	11	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:37047081G>A	ENST00000591340.1	-	3	191	c.33C>T	c.(31-33)gtC>gtT	p.V11V	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	11					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	Esophageal squamous(110;0.198)					gagctccatggacatgatccc	0.378																																																	0								ENSG00000186020						133	114	120					19																	37047081		692	1591	2283	ZNF529	SO:0001819	synonymous_variant	0			-	HGNC	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.33C>T	19.37:g.37047081G>A		Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	K7EKE1|Q9H731|Q9HCF7	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V11	ENST00000591340.1	37	c.33	CCDS54256.1	19																																																																																			-	NULL		0.378	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	protein_coding	OTTHUMT00000452730.1	G	NM_020951	-		37047081	-1	no_errors	ENST00000591340	ensembl	human	known	74_37	silent	SNP	0.002	A	A	37047081	G	A	37047081	2	1	102	1	0	0	0	0	0	0	0	1	17977	1161	41	2		2	ZNF529	19	37047081	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1331224	37047081	22081902	670	6580											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38682899	38682899	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatcgaggatgacctgaaGaaactcatcatcatggacaa	8	10	3	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:38682899G>A	ENST00000222345.6	+	17	5054	c.4545G>A	c.(4543-4545)aaG>aaA	p.K1515K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1515					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGACCTGAAGAAACTCATCA	0.582																																																	0								ENSG00000105738						85	73	77					19																	38682899		2203	4300	6503	SIPA1L3	SO:0001819	synonymous_variant	0			-	HGNC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4545G>A	19.37:g.38682899G>A		Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	Q2TV87	Silent	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.K1515	ENST00000222345.6	37	c.4545	CCDS33007.1	19																																																																																			-	pfam_DUF3401		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	protein_coding	OTTHUMT00000156294.2	G	XM_032278	-		38682899	1	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38682899	G	A	38682899	2	1	102	1	0	0	0	0	0	0	0	1	14339	933	33	2		2	SIPA1L3	19	38682899	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1635818	38682899	20446084	671	6581											
MAP4K1	11184	genome.wustl.edu	37	chr19	39104934	39104934	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaataggccagtcccTggggagaagggtggacaagg	17	7	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39104934T>G	ENST00000591517.1	-	6	398		c.e6-2		MAP4K1_ENST00000586296.1_Splice_Site|MAP4K1_ENST00000589130.1_Splice_Site|MAP4K1_ENST00000589002.1_5'Flank|MAP4K1_ENST00000396857.2_Splice_Site|MAP4K1_ENST00000423454.2_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCAGTCCCTGGGGAGAAGG	0.622																																																	0								ENSG00000104814						106	108	107					19																	39104934		1894	4112	6006	MAP4K1	SO:0001630	splice_region_variant	0			-	HGNC	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.370-2A>C	19.37:g.39104934T>G		Somatic	0	117	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34		Splice_Site	SNP							-	e6-2	ENST00000591517.1	37	c.370-2	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650662	0.67472	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2839	0.60232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K1	43796774	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.197000	0.77814	2.020000	0.59435	0.460000	0.39030	.	-	-		0.622	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	protein_coding	OTTHUMT00000453390.1	T	NM_001042600	-	Intron	39104934	-1	no_errors	ENST00000591517	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	39104934	T	G	39104934	5	3	102	1	0	0	0	0	0	0	1	0	9261	1594	55	5	2303	5	MAP4K1	19	39104934	Splice_Site	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	422035	39104934	20024049	672	6582											
SIRT2	22933	genome.wustl.edu	37	chr19	39371791	39371791	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctctcaccaaaaaagacGatatctgaggtggagacaga	11	8	2	4	rs143663529	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39371791G>A	ENST00000249396.7	-	11	997	c.696C>T	c.(694-696)atC>atT	p.I232I	SIRT2_ENST00000392081.2_Silent_p.I195I|SIRT2_ENST00000358931.5_Silent_p.I232I|RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	232	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAAAAAGACGATATCTGAGG	0.607													G|||	2	0.000399361	0	0	5008	,	,		15796	0		0	False		,,,				2504	0.002																0								ENSG00000068903	G	,,	0,4406		0,0,2203	81	72	75		585,696,585	-0.2	0.4	19	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SIRT2	NM_001193286.1,NM_012237.3,NM_030593.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	195/235,232/390,195/353	39371791	2,13004	2203	4300	6503	SIRT2	SO:0001819	synonymous_variant	0			-	HGNC	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.696C>T	19.37:g.39371791G>A		Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP							pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.I232	ENST00000249396.7	37	c.696	CCDS12523.1	19																																																																																			-	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom		0.607	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	protein_coding	OTTHUMT00000318278.1	G		rs143663529		39371791	-1	no_errors	ENST00000249396	ensembl	human	known	74_37	silent	SNP	0.987	A	A	39371791	G	A	39371791	2	1	102	1	0	0	0	0	0	0	0	1	14346	1048	37	1		1	SIRT2	19	39371791	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	266857	39371791	19757192	673	6583											
DLL3	10683	genome.wustl.edu	37	chr19	39991283	39991283	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcatcatcgaaacctGgagagaggagttaggagacc	11	9	3	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39991283G>A	ENST00000205143.4	+	3	387	c.380G>A	c.(379-381)tGg>tAg	p.W127*	DLL3_ENST00000356433.5_Nonsense_Mutation_p.W127*	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	127					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATCGAAACCTGGAGAGAGGAG	0.532																																																	0								ENSG00000090932						145	140	142					19																	39991283		2203	4300	6503	DLL3	SO:0001587	stop_gained	0			-	HGNC	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.380G>A	19.37:g.39991283G>A	ENSP00000205143:p.Trp127*	Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	E9PFG2|Q8NBS4	Nonsense_Mutation	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.W127*	ENST00000205143.4	37	c.380	CCDS12538.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.775594	0.96922	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	.	.	.	4.45	4.45	0.53987	.	0.367704	0.20117	N	0.098887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8434	0.70243	0.0:0.0:1.0:0.0	.	.	.	.	X	127	.	.	W	+	2	0	DLL3	44683123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.987000	0.76206	2.426000	0.82243	0.561000	0.74099	TGG	-	NULL		0.532	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	protein_coding	OTTHUMT00000464958.1	G		-		39991283	1	no_errors	ENST00000205143	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	39991283	G	A	39991283	4	1	102	1	0	0	0	0	0	1	0	0	4569	1357	47	2	390	2	DLL3	19	39991283	Nonsense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	619492	39991283	19137700	674	6584											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	102	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-DX-A8BP-01A-11D-A37C-09	1182610	41173893	17955090	675	6585											
PAFAH1B3	5050	genome.wustl.edu	37	chr19	42804233	42804233	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggttgttggtgcccacccaGaccaccacaatctgtggaaa	10	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:42804233G>A	ENST00000262890.3	-	4	558	c.297C>T	c.(295-297)gtC>gtT	p.V99V	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Silent_p.V99V	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	99					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				TGCCCACCCAGACCACCACAA	0.597																																																	0								ENSG00000079462						107	100	102					19																	42804233		2203	4300	6503	PAFAH1B3	SO:0001819	synonymous_variant	0			-	HGNC	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.297C>T	19.37:g.42804233G>A		Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q53X88	Silent	SNP							NULL	p.V99	ENST00000262890.3	37	c.297	CCDS12602.1	19																																																																																			-	NULL		0.597	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B3	protein_coding	OTTHUMT00000463726.1	G	NM_002573	-		42804233	-1	no_errors	ENST00000262890	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42804233	G	A	42804233	2	1	102	1	0	0	0	0	0	0	0	1	11388	929	33	2		2	PAFAH1B3	19	42804233	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1630340	42804233	16324750	676	6586											
PSG5	5673	genome.wustl.edu	37	chr19	43679570	43679570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggacaagtagaggttttctCctgaacggtaataggtgaat	12	5	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:43679570C>T	ENST00000366175.3	-	4	891	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PSG5_ENST00000342951.6_Missense_Mutation_p.G254E|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.G347E|PSG5_ENST00000404580.1_Missense_Mutation_p.G254E|PSG5_ENST00000407356.1_Missense_Mutation_p.G254E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	254	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGGTTTTCTCCTGAACGGTA	0.478																																																	0								ENSG00000204941						153	166	162					19																	43679570		2203	4295	6498	PSG5	SO:0001583	missense	0			-	HGNC		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.761G>A	19.37:g.43679570C>T	ENSP00000382334:p.Gly254Glu	Somatic	0	137	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	60	25.00	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G254E	ENST00000366175.3	37	c.761	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	c	11.61	1.690001	0.29962	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	D;D;D;T	0.85088	-1.94;-1.94;-1.94;1.92	1.25	1.25	0.21368	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90717	0.7087	M	0.85710	2.77	0.09310	N	0.999995	P;P	0.50369	0.934;0.747	D;P	0.66979	0.948;0.657	T	0.79607	-0.1733	9	0.54805	T	0.06	.	5.8107	0.18465	0.0:1.0:0.0:0.0	.	347;254	Q15228;Q15238	.;PSG5_HUMAN	E	254	ENSP00000382334:G254E;ENSP00000386008:G254E;ENSP00000344413:G254E;ENSP00000385250:G254E	ENSP00000344413:G254E	G	-	2	0	PSG5	48371410	0.003000	0.15002	0.005000	0.12908	0.027000	0.11550	0.258000	0.18387	0.644000	0.30656	0.184000	0.17185	GGA	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.478	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	protein_coding	OTTHUMT00000323055.1	C	NM_002781	-		43679570	-1	no_errors	ENST00000342951	ensembl	human	known	74_37	missense	SNP	0.004	T	T	43679570	C	T	43679570	3	4	102	1	0	0	0	0	1	0	0	0	12663	855	30	2	254	2	PSG5	19	43679570	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	875337	43679570	15449413	677	6587											
ZNF221	7638	genome.wustl.edu	37	chr19	44470773	44470775	+	In_Frame_Del	DEL	AGG	AGG	-													aaatgtgagcaatgtggaaaAggcttcatttgtaggcgaga					rs150467733		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:44470773_44470775delAGG	ENST00000251269.5	+	6	1447_1449	c.1119_1121delAGG	c.(1117-1122)aaaggc>aac	p.373_374KG>N	ZNF221_ENST00000592350.1_In_Frame_Del_p.373_374KG>N|ZNF221_ENST00000587682.1_In_Frame_Del_p.373_374KG>N	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AATGTGGAAAAGGCTTCATTTGT	0.414																																																	0								ENSG00000159905																																			ZNF221	SO:0001651	inframe_deletion	0				HGNC	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1119_1121delAGG	19.37:g.44470773_44470775delAGG	ENSP00000251269:p.Lys373_Gly374delinsAsn	Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B2RAI6|Q2M2H2|Q9P1U8	In_Frame_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.KG373in_frame_delN	ENST00000251269.5	37	c.1119_1121	CCDS12633.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.414	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	protein_coding	OTTHUMT00000460068.1	AGG				44470775	1	no_errors	ENST00000251269	ensembl	human	known	74_37	in_frame_del	DEL	0.116:0.010:0.049	-	-	44470775	AGG	-	44470773	7	5	102	1	0	1	0	1	0	0	0	0	17782	69	3	0	1133	0	ZNF221	19	44470773	In_Frame_Del	DEL	AGG	TCGA-DX-A8BP-01A-11D-A37C-09	791203	44470773	14658210	678	6588											
ZNF222	7673	genome.wustl.edu	37	chr19	44536292	44536292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtggaaaaagcttctgTtacatctcagcccttcatat	8	9	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:44536292T>C	ENST00000187879.8	+	4	627	c.465T>C	c.(463-465)tgT>tgC	p.C155C	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.C195C	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	155					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(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AAAGCTTCTGTTACATCTCAG	0.423																																																	0								ENSG00000159885						157	163	161					19																	44536292		2203	4300	6503	ZNF222	SO:0001819	synonymous_variant	0			-	HGNC	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.465T>C	19.37:g.44536292T>C		Somatic	1	103	0.96		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C195	ENST00000187879.8	37	c.585	CCDS33045.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	protein_coding	OTTHUMT00000460465.2	T		-		44536292	1	no_errors	ENST00000391960	ensembl	human	known	74_37	silent	SNP	0.000	C	C	44536292	T	C	44536292	2	2	102	1	0	0	0	0	0	0	0	1	17783	1731	60	5		5	ZNF222	19	44536292	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	65519	44536292	14592691	679	6589											
PVR	5817	genome.wustl.edu	37	chr19	45162066	45162066	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgccatcatcttcctggttCtgggaatcctggtttttctg	9	11	4	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:45162066C>T	ENST00000425690.3	+	6	1347	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.L350L|PVR_ENST00000344956.4_Intron|PVR_ENST00000403059.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	350					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTTCCTGGTTCTGGGAATCCT	0.493																																																	0								ENSG00000073008						179	167	171					19																	45162066		2203	4300	6503	PVR	SO:0001819	synonymous_variant	0			-	HGNC	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1048C>T	19.37:g.45162066C>T		Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP							pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L350	ENST00000425690.3	37	c.1048	CCDS12640.1	19																																																																																			-	NULL		0.493	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	C	NM_006505	-		45162066	1	no_errors	ENST00000425690	ensembl	human	known	74_37	silent	SNP	0.000	T	T	45162066	C	T	45162066	2	4	102	1	0	0	0	0	0	0	0	1	12845	912	32	2		2	PVR	19	45162066	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	625774	45162066	13966917	680	6590											
CLPTM1	1209	genome.wustl.edu	37	chr19	45491350	45491350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgcaggtggccctgctgGagaccaacccctacctgctg	11	17	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:45491350G>A	ENST00000337392.5	+	9	1201	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	CLPTM1_ENST00000541297.2_Missense_Mutation_p.E337K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E249K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	351					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCCCTGCTGGAGACCAACCC	0.612																																																	0								ENSG00000104853						259	203	222					19																	45491350		2203	4300	6503	CLPTM1	SO:0001583	missense	0			-	HGNC	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1051G>A	19.37:g.45491350G>A	ENSP00000336994:p.Glu351Lys	Somatic	0	89	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP							pfam_CLPTM1	p.E351K	ENST00000337392.5	37	c.1051	CCDS12651.1	19	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987503	0.93106	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.91510	3.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.988;0.993	D	0.88172	0.2865	9	0.72032	D	0.01	-29.2594	14.5846	0.68315	0.0:0.0:1.0:0.0	.	337;351	F5H8J3;O96005	.;CLPT1_HUMAN	K	249;337;351;351	.	ENSP00000336994:E351K	E	+	1	0	CLPTM1	50183190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.846000	0.92159	2.271000	0.75665	0.650000	0.86243	GAG	-	pfam_CLPTM1		0.612	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	G	NM_001294	-		45491350	1	no_errors	ENST00000337392	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45491350	G	A	45491350	3	1	102	1	0	0	0	0	1	0	0	0	3556	1175	41	2	1085	2	CLPTM1	19	45491350	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	329284	45491350	13637633	681	6591											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccatcttacagcctgtttCgagaagacacatcactgcct	7	13	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					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)										CAGCCTGTTTCGAGAAGACAC	0.478																																																	0								ENSG00000160007						63	62	63					19																	47424921		1939	4149	6088	ARHGAP35	SO:0001587	stop_gained	0			-	HGNC	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.2989C>T	19.37:g.47424921C>T	ENSP00000385720:p.Arg997*	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R997*	ENST00000404338.3	37	c.2989	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.316244	0.98757	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.76	3.57	0.40892	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.3842	10.1905	0.43024	0.2739:0.5937:0.1324:0.0	.	.	.	.	X	997	.	ENSP00000324820:R997X	R	+	1	2	ARHGAP35	52116761	0.001000	0.12720	0.999000	0.59377	0.993000	0.82548	-0.110000	0.10824	0.737000	0.32582	0.655000	0.94253	CGA	-	NULL		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	C	NM_004491	-		47424921	1	no_errors	ENST00000404338	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	47424921	C	T	47424921	4	4	102	1	0	0	0	0	0	1	0	0	6797	876	31	1	2991	1	ARHGAP35	19	47424921	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1933571	47424921	11704062	682	6592											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47492888	47492888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagaactgcctgaccCcctggtcccgtataacatgc	7	15	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:47492888C>T	ENST00000404338.3	+	4	3992	c.3992C>T	c.(3991-3993)cCc>cTc	p.P1331L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1331	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)										CTGCCTGACCCCCTGGTCCCG	0.547																																																	0								ENSG00000160007						153	153	153					19																	47492888		1988	4159	6147	ARHGAP35	SO:0001583	missense	0			-	HGNC	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.3992C>T	19.37:g.47492888C>T	ENSP00000385720:p.Pro1331Leu	Somatic	0	80	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P1331L	ENST00000404338.3	37	c.3992	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.119915	0.94385	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.58358	0.34	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84770	0.0767	10	0.87932	D	0	-23.3862	18.1907	0.89806	0.0:1.0:0.0:0.0	.	1331	Q9NRY4-2	.	L	1331	ENSP00000385720:P1331L	ENSP00000324820:P1331L	P	+	2	0	ARHGAP35	52184728	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.337000	0.79256	2.604000	0.88044	0.655000	0.94253	CCC	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.547	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	C	NM_004491	-		47492888	1	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47492888	C	T	47492888	3	4	102	1	0	0	0	0	1	0	0	0	6797	623	22	2	4006	2	ARHGAP35	19	47492888	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	67967	47492888	11636095	683	6593											
NAPA	8775	genome.wustl.edu	37	chr19	47996381	47996381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagggggctacctgttGgactcctcgcctttgtagta	13	10	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:47996381G>A	ENST00000263354.3	-	6	770	c.471C>T	c.(469-471)tcC>tcT	p.S157S	NAPA_ENST00000595227.1_Silent_p.S118S|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	157					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)				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)		GCTACCTGTTGGACTCCTCGC	0.642																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						108	104	105					19																	47996381		2203	4300	6503	NAPA	SO:0001819	synonymous_variant	0			-	HGNC	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.471C>T	19.37:g.47996381G>A		Somatic	0	93	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	A8K879|Q96IK3|Q9BVJ3	Silent	SNP							prints_NSF_attach	p.S157	ENST00000263354.3	37	c.471	CCDS12702.1	19																																																																																			-	NULL		0.642	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		47996381	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	silent	SNP	1.000	A	A	47996381	G	A	47996381	2	1	102	1	0	0	0	0	0	0	0	1	10163	1335	47	2		2	NAPA	19	47996381	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	503493	47996381	11132602	684	6594											
NAPA	8775	genome.wustl.edu	37	chr19	48018105	48018105	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcccggttctcacccaaaGaggccagagaagaaggactg	12	12	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48018105G>A	ENST00000263354.3	-	1	392	c.93C>T	c.(91-93)ctC>ctT	p.L31L	NAPA_ENST00000595227.1_Silent_p.L31L|NAPA_ENST00000593785.1_5'UTR	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	31					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)				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)		CTCACCCAAAGAGGCCAGAGA	0.652																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						55	47	49					19																	48018105		2203	4300	6503	NAPA	SO:0001819	synonymous_variant	0			-	HGNC	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.93C>T	19.37:g.48018105G>A		Somatic	0	156	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61	A8K879|Q96IK3|Q9BVJ3	Silent	SNP							prints_NSF_attach	p.L31	ENST00000263354.3	37	c.93	CCDS12702.1	19																																																																																			-	NULL		0.652	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		48018105	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	silent	SNP	0.989	A	A	48018105	G	A	48018105	2	1	102	1	0	0	0	0	0	0	0	1	10163	929	33	2		2	NAPA	19	48018105	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	21724	48018105	11110878	685	6595											
TPRX1	284355	genome.wustl.edu	37	chr19	48305231	48305231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgagggaataactgggtgTctggcaagaagtcggaggca	17	5	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48305231T>C	ENST00000322175.3	-	2	1192	c.1037A>G	c.(1036-1038)gAc>gGc	p.D346G	TPRX1_ENST00000543508.1_Missense_Mutation_p.D336G|TPRX1_ENST00000535759.1_Missense_Mutation_p.D443G	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	346						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TAACTGGGTGTCTGGCAAGAA	0.602																																					Esophageal Squamous(123;175 2281 3051 32395)												0								ENSG00000178928						85	86	86					19																	48305231		2203	4300	6503	TPRX1	SO:0001583	missense	0			-	HGNC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1037A>G	19.37:g.48305231T>C	ENSP00000323455:p.Asp346Gly	Somatic	0	50	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	A5D8Y3|B2RPL5	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D443G	ENST00000322175.3	37	c.1328	CCDS33066.1	19	.	.	.	.	.	.	.	.	.	.	t	11.08	1.533004	0.27387	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94092	-2.18;-3.35	1.27	1.27	0.21489	.	.	.	.	.	D	0.88636	0.6490	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.57324	0.818	T	0.79699	-0.1694	9	0.66056	D	0.02	.	4.71	0.12868	0.0:0.0:0.0:1.0	.	346	Q8N7U7	TPRX1_HUMAN	G	346;443;336	ENSP00000323455:D346G;ENSP00000438832:D443G	ENSP00000323455:D346G	D	-	2	0	TPRX1	52997043	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	-0.111000	0.10807	0.848000	0.35191	0.402000	0.26972	GAC	-	NULL		0.602	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	protein_coding	OTTHUMT00000409868.1	T	NM_198479	-		48305231	-1	no_errors	ENST00000535759	ensembl	human	known	74_37	missense	SNP	0.006	C	C	48305231	T	C	48305231	3	2	102	1	0	0	0	0	1	0	0	0	16429	1667	58	5	202	5	TPRX1	19	48305231	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	287126	48305231	10823752	686	6596											
CARD8	22900	genome.wustl.edu	37	chr19	48733921	48733921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccttcattcttaaaaTgggcaacgagaaaccaggag	8	11	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48733921T>C	ENST00000359009.4	-	6	803	c.491A>G	c.(490-492)cAt>cGt	p.H164R	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.H220R|CARD8_ENST00000520153.1_Missense_Mutation_p.H220R|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Missense_Mutation_p.H270R|CARD8_ENST00000520753.1_Missense_Mutation_p.H270R|CARD8_ENST00000391898.3_Missense_Mutation_p.H270R|CARD8_ENST00000519940.1_Missense_Mutation_p.H270R|CARD8_ENST00000521613.1_Missense_Mutation_p.H220R			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	164					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ATTCTTAAAATGGGCAACGAG	0.602																																																	0								ENSG00000105483						109	111	110					19																	48733921		2203	4300	6503	CARD8	SO:0001583	missense	0			-	HGNC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.491A>G	19.37:g.48733921T>C	ENSP00000351901:p.His164Arg	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.H270R	ENST00000359009.4	37	c.809		19	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260781	0.39995	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	2.29	1.26	0.21427	.	.	.	.	.	T	0.49541	0.1563	M	0.75615	2.305	0.27429	N	0.954059	D;D;D;D;D;D;D;D	0.62365	0.991;0.991;0.991;0.991;0.96;0.989;0.989;0.991	D;D;D;D;D;D;D;D	0.78314	0.991;0.987;0.987;0.987;0.923;0.978;0.985;0.991	T	0.32981	-0.9886	9	0.87932	D	0	.	5.8353	0.18602	0.0:0.1469:0.0:0.8531	.	189;270;270;203;270;220;164;164	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	R	220;270;164;270;220;270;220;270	ENSP00000391248:H220R;ENSP00000375767:H270R;ENSP00000351901:H164R;ENSP00000429839:H270R;ENSP00000428736:H220R;ENSP00000430747:H270R;ENSP00000427858:H220R;ENSP00000428883:H270R	ENSP00000351901:H164R	H	-	2	0	CARD8	53425733	0.998000	0.40836	0.258000	0.24420	0.182000	0.23217	1.321000	0.33678	0.319000	0.23209	-0.332000	0.08345	CAT	-	NULL		0.602	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	protein_coding		T	NM_014959	-		48733921	-1	no_errors	ENST00000391898	ensembl	human	known	74_37	missense	SNP	0.966	C	C	48733921	T	C	48733921	3	2	102	1	0	0	0	0	1	0	0	0	2653	1464	51	5	824	5	CARD8	19	48733921	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	428690	48733921	10395062	687	6597											
GRIN2D	2906	genome.wustl.edu	37	chr19	48919340	48919340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcgtggacttctccgtcCccttcgtggagaccggcatc	11	14	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48919340C>T	ENST00000263269.3	+	7	1751	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	555					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTCCGTCCCCTTCGTGGA	0.657																																																	0								ENSG00000105464						107	89	95					19																	48919340		2203	4300	6503	GRIN2D	SO:0001583	missense	0			-	HGNC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1663C>T	19.37:g.48919340C>T	ENSP00000263269:p.Pro555Ser	Somatic	0	112	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33		Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P555S	ENST00000263269.3	37	c.1663	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	c	25.4	4.635352	0.87760	.	.	ENSG00000105464	ENST00000263269	T	0.42513	0.97	3.91	3.91	0.45181	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.140450	0.48286	D	0.000181	T	0.69124	0.3076	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77370	-0.2613	10	0.87932	D	0	.	15.2148	0.73258	0.0:1.0:0.0:0.0	.	555	O15399	NMDE4_HUMAN	S	555	ENSP00000263269:P555S	ENSP00000263269:P555S	P	+	1	0	GRIN2D	53611152	1.000000	0.71417	0.932000	0.37286	0.820000	0.46376	7.505000	0.81655	2.200000	0.70718	0.556000	0.70494	CCC	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	protein_coding	OTTHUMT00000466121.1	C		-		48919340	1	no_errors	ENST00000263269	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48919340	C	T	48919340	3	4	102	1	0	0	0	0	1	0	0	0	6784	623	22	2	1685	2	GRIN2D	19	48919340	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	185419	48919340	10209643	688	6598											
RCN3	57333	genome.wustl.edu	37	chr19	50031746	50031746	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accgatgatgtggcgaccatCagttctgctgcttctgttgc	11	11	3	1	rs574372719		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50031746C>T	ENST00000270645.3	+	2	464	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	6						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGCGACCATCAGTTCTGCTG	0.667													C|||	1	0.000199681	0	0	5008	,	,		14185	0		0.001	False		,,,				2504	0																0								ENSG00000142552						177	186	183					19																	50031746		2203	4300	6503	RCN3	SO:0001583	missense	0			-	HGNC	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.17C>T	19.37:g.50031746C>T	ENSP00000270645:p.Ser6Leu	Somatic	0	39	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q9HBZ8	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.S6L	ENST00000270645.3	37	c.17	CCDS12771.1	19	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591583	0.28357	.	.	ENSG00000142552	ENST00000270645	T	0.10763	2.84	4.22	4.22	0.49857	.	0.479193	0.18606	N	0.136286	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	10	0.10902	T	0.67	-5.7809	14.5379	0.67973	0.0:1.0:0.0:0.0	.	6	Q96D15	RCN3_HUMAN	L	6	ENSP00000270645:S6L	ENSP00000270645:S6L	S	+	2	0	RCN3	54723558	0.006000	0.16342	0.004000	0.12327	0.199000	0.23934	1.845000	0.39279	2.389000	0.81357	0.456000	0.33151	TCA	-	NULL		0.667	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN3	protein_coding	OTTHUMT00000465261.1	C	NM_020650	-		50031746	1	no_errors	ENST00000270645	ensembl	human	known	74_37	missense	SNP	0.010	T	T	50031746	C	T	50031746	3	4	102	1	0	0	0	0	1	0	0	0	13189	838	29	2	19	2	RCN3	19	50031746	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1112406	50031746	9097237	689	6599											
RRAS	6237	genome.wustl.edu	37	chr19	50143295	50143295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcggggggtccccggGcccaggtcccccgccccggg	19	18	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50143295G>A	ENST00000246792.3	-	1	163	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	SCAF1_ENST00000360565.3_5'Flank	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	21					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGGTCCCCGGGCCCAGGTccc	0.761																																																	0								ENSG00000126458						3	4	4					19																	50143295		1953	3861	5814	RRAS	SO:0001583	missense	0			-	HGNC		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"Oncogene RRAS"	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.61C>T	19.37:g.50143295G>A	ENSP00000246792:p.Pro21Ser	Somatic	0	31	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	Q6FH12	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P21S	ENST00000246792.3	37	c.61	CCDS12774.1	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411565	0.83340	.	.	ENSG00000126458	ENST00000246792	T	0.68765	-0.35	4.58	3.48	0.39840	.	0.000000	0.42053	D	0.000778	T	0.41213	0.1149	N	0.08118	0	0.33213	D	0.553624	P	0.41313	0.745	B	0.36608	0.229	T	0.52193	-0.8608	10	0.17369	T	0.5	.	12.4867	0.55877	0.0:0.1688:0.8312:0.0	.	21	P10301	RRAS_HUMAN	S	21	ENSP00000246792:P21S	ENSP00000246792:P21S	P	-	1	0	RRAS	54835107	0.976000	0.34144	0.990000	0.47175	0.936000	0.57629	1.626000	0.37039	2.385000	0.81259	0.555000	0.69702	CCC	-	NULL		0.761	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAS	protein_coding	OTTHUMT00000465791.1	G	NM_006270	-		50143295	-1	no_errors	ENST00000246792	ensembl	human	known	74_37	missense	SNP	0.998	A	A	50143295	G	A	50143295	3	1	102	1	0	0	0	0	1	0	0	0	13684	1203	42	2	619	2	RRAS	19	50143295	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	111549	50143295	8985688	690	6600											
BCL2L12	83596	genome.wustl.edu	37	chr19	50169131	50169131	+	Silent	SNP	C	C	T													ctatgcccttttttgggtttCcggccagaggcatgctggga					rs267605591		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.F17F|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000600022.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572																																																	0								ENSG00000126453						42	46	45					19																	50169131		2203	4300	6503	BCL2L12	SO:0001819	synonymous_variant	0			-	HGNC	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.51C>T	19.37:g.50169131C>T		Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP							NULL	p.F17	ENST00000246785.3	37	c.51	CCDS12776.1	19																																																																																			-	NULL		0.572	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	protein_coding	OTTHUMT00000465770.1	C	NM_052842	-		50169131	1	no_errors	ENST00000246785	ensembl	human	known	74_37	silent	SNP	0.876	T	T	50169131	C	T	50169131	2	4	102	1	0	0	0	0	0	0	0	1	1370	869	30	2		2	BCL2L12	19	50169131	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	25836	50169131	8959852	691	6601	96	2									
BCL2L12	83596	genome.wustl.edu	37	chr19	50169132	50169132	+	Missense_Mutation	SNP	C	C	T													tatgcccttttttgggtttcCggccagaggcatgctgggag							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50169132C>T	ENST00000246785.3	+	1	310	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000600022.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	18					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577																																																	0								ENSG00000126453						42	46	44					19																	50169132		2203	4300	6503	BCL2L12	SO:0001583	missense	0			-	HGNC	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.52C>T	19.37:g.50169132C>T	ENSP00000246785:p.Arg18Trp	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP							NULL	p.R18W	ENST00000246785.3	37	c.52	CCDS12776.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.484360	0.96307	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.58210	0.59;0.59;0.35	3.62	3.62	0.41486	.	0.000000	0.31747	U	0.007128	T	0.44350	0.1289	N	0.08118	0	0.28648	N	0.906817	D;D	0.76494	0.999;0.999	P;P	0.56343	0.796;0.796	T	0.41179	-0.9523	10	0.87932	D	0	-7.1943	11.0583	0.47931	0.0:1.0:0.0:0.0	.	18;18	Q3SY13;Q9HB09	.;B2L12_HUMAN	W	18	ENSP00000246785:R18W;ENSP00000393803:R18W;ENSP00000246784:R18W	ENSP00000246784:R18W	R	+	1	2	BCL2L12	54860944	0.918000	0.31147	0.874000	0.34290	0.973000	0.67179	1.200000	0.32247	2.344000	0.79699	0.467000	0.42956	CGG	-	NULL		0.577	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	protein_coding	OTTHUMT00000465770.1	C	NM_052842	-		50169132	1	no_errors	ENST00000246785	ensembl	human	known	74_37	missense	SNP	0.868	T	T	50169132	C	T	50169132	3	4	102	1	0	0	0	0	1	0	0	0	1370	666	23	1	54	1	BCL2L12	19	50169132	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	50169132	8959851	692	6602	96	2									
TSKS	60385	genome.wustl.edu	37	chr19	50266372	50266372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctttttcttcgggatccCcttggcccggctggtcaccc	9	16	3	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50266372C>T	ENST00000246801.3	-	1	215	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	45					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)		TTCGGGATCCCCTTGGCCCGG	0.622																																																	0								ENSG00000126467						91	89	90					19																	50266372		2203	4300	6503	TSKS	SO:0001583	missense	0			-	HGNC	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.133G>A	19.37:g.50266372C>T	ENSP00000246801:p.Gly45Arg	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	Q8WXJ0	Missense_Mutation	SNP							NULL	p.G45R	ENST00000246801.3	37	c.133	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883923	0.51908	.	.	ENSG00000126467	ENST00000246801	T	0.36157	1.27	4.93	4.93	0.64822	.	0.000000	0.43579	D	0.000548	T	0.47210	0.1433	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.50524	-0.8818	10	0.72032	D	0.01	-28.3638	15.0676	0.72008	0.0:1.0:0.0:0.0	.	45	Q9UJT2	TSKS_HUMAN	R	45	ENSP00000246801:G45R	ENSP00000246801:G45R	G	-	1	0	TSKS	54958184	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	2.612000	0.46343	2.299000	0.77371	0.467000	0.42956	GGG	-	NULL		0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	C	NM_021733	-		50266372	-1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50266372	C	T	50266372	3	4	102	1	0	0	0	0	1	0	0	0	16633	623	22	2	1689	2	TSKS	19	50266372	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	97240	50266372	8862611	693	6603											
VRK3	51231	genome.wustl.edu	37	chr19	50512498	50512498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccttaactcttacctttgGatctctcagaggaactcaga	7	11	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50512498G>A	ENST00000599538.1	-	4	948	c.284C>T	c.(283-285)tCc>tTc	p.S95F	VRK3_ENST00000593919.1_Missense_Mutation_p.S95F|VRK3_ENST00000594948.1_Missense_Mutation_p.S95F|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.S95F|VRK3_ENST00000316763.3_Missense_Mutation_p.S95F|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000443401.2_Intron			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	95					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)		CTTACCTTTGGATCTCTCAGA	0.478																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												0								ENSG00000105053						245	239	241					19																	50512498		2203	4300	6503	VRK3	SO:0001583	missense	0			-	HGNC	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.284C>T	19.37:g.50512498G>A	ENSP00000469880:p.Ser95Phe	Somatic	0	98	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.S95F	ENST00000599538.1	37	c.284	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675696	0.67928	.	.	ENSG00000105053	ENST00000316763;ENST00000424804	T	0.26518	1.73	4.26	2.08	0.27032	.	1.813060	0.02150	N	0.057952	T	0.23451	0.0567	L	0.44542	1.39	0.19945	N	0.999944	P;P;P	0.43094	0.574;0.799;0.776	B;B;B	0.38020	0.135;0.263;0.143	T	0.22208	-1.0223	10	0.59425	D	0.04	-0.9857	5.1722	0.15116	0.1052:0.0:0.691:0.2037	.	95;95;95	E7EMG6;Q8IV63-2;Q8IV63	.;.;VRK3_HUMAN	F	95	ENSP00000324636:S95F	ENSP00000324636:S95F	S	-	2	0	VRK3	55204310	0.004000	0.15560	0.191000	0.23289	0.703000	0.40648	0.351000	0.20096	0.712000	0.32039	0.655000	0.94253	TCC	-	NULL		0.478	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	protein_coding	OTTHUMT00000464815.1	G	NM_016440	-		50512498	-1	no_errors	ENST00000316763	ensembl	human	known	74_37	missense	SNP	0.230	A	A	50512498	G	A	50512498	3	1	102	1	0	0	0	0	1	0	0	0	17228	1174	41	2	1184	2	VRK3	19	50512498	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	246126	50512498	8616485	694	6604											
MYH14	79784	genome.wustl.edu	37	chr19	50795622	50795622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcctcaagggcctggaGgctgaggtgctgcggctgca	17	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50795622G>A	ENST00000596571.1	+	34	5109	c.5109G>A	c.(5107-5109)gaG>gaA	p.E1703E	MYH14_ENST00000376970.2_Silent_p.E1736E|MYH14_ENST00000598205.1_Silent_p.E1711E|MYH14_ENST00000601313.1_Silent_p.E1744E|MYH14_ENST00000262269.8_Silent_p.E1744E|MYH14_ENST00000425460.1_Silent_p.E1711E|MYH14_ENST00000440075.2_Silent_p.E1744E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1703					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)			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)		AGGGCCTGGAGGCTGAGGTGC	0.627																																																	0								ENSG00000105357						13	16	15					19																	50795622		2008	4195	6203	MYH14	SO:0001819	synonymous_variant	0			-	HGNC	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.5109G>A	19.37:g.50795622G>A		Somatic	0	217	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	78	22.00	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1744	ENST00000596571.1	37	c.5232	CCDS59411.1	19																																																																																			-	pfam_Myosin_tail		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	G	NM_024729	-		50795622	1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50795622	G	A	50795622	2	1	102	1	0	0	0	0	0	0	0	1	10035	991	35	2		2	MYH14	19	50795622	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	283124	50795622	8333361	695	6605											
SIGLEC8	27181	genome.wustl.edu	37	chr19	51960875	51960875	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggacacggaggccccaatCcaggagatcatggggggtgt	17	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:51960875C>T	ENST00000321424.3	-	2	639	c.573G>A	c.(571-573)tgG>tgA	p.W191*	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	191	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGCCCCAATCCAGGAGATCA	0.647																																																	0								ENSG00000105366						62	67	65					19																	51960875		2203	4300	6503	SIGLEC8	SO:0001587	stop_gained	0			-	HGNC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.573G>A	19.37:g.51960875C>T	ENSP00000321077:p.Trp191*	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q7Z728	Nonsense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W191*	ENST00000321424.3	37	c.573	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	19.77	3.889553	0.72524	.	.	ENSG00000105366	ENST00000321424	.	.	.	2.69	1.59	0.23543	.	0.000000	0.38111	N	0.001802	.	.	.	.	.	.	0.49798	D	0.999828	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8703	0.18799	0.0:0.8378:0.0:0.1622	.	.	.	.	X	191	.	ENSP00000321077:W191X	W	-	3	0	SIGLEC8	56652687	0.814000	0.29104	0.385000	0.26158	0.067000	0.16453	0.852000	0.27764	0.425000	0.26087	0.502000	0.49764	TGG	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom		0.647	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	protein_coding	OTTHUMT00000463648.2	C	NM_014442	-		51960875	-1	no_errors	ENST00000321424	ensembl	human	known	74_37	nonsense	SNP	0.630	T	T	51960875	C	T	51960875	4	4	102	1	0	0	0	0	0	1	0	0	14322	856	30	2	950	2	SIGLEC8	19	51960875	Nonsense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1165253	51960875	7168108	696	6606											
SIGLEC14	100049587	genome.wustl.edu	37	chr19	52149119	52149119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgaggttggtgccatggtCctcgggcctgggggtgaggg	22	7	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52149119C>T	ENST00000360844.6	-	3	657	c.616G>A	c.(616-618)Gac>Aac	p.D206N	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	206	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GTGCCATGGTCCTCGGGCCTG	0.642																																																	0								ENSG00000254415						51	49	50					19																	52149119		2061	4188	6249	SIGLEC14	SO:0001583	missense	0			-	HGNC	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.616G>A	19.37:g.52149119C>T	ENSP00000354090:p.Asp206Asn	Somatic	0	102	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64	Q6UXG0	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D206N	ENST00000360844.6	37	c.616	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331073	0.41297	.	.	ENSG00000254415	ENST00000360844	T	0.20332	2.08	3.1	1.93	0.25924	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000183	T	0.44286	0.1286	M	0.85462	2.755	0.09310	N	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.09143	-1.0688	10	0.87932	D	0	.	7.462	0.27300	0.0:0.7294:0.2706:0.0	.	206	Q08ET2	SIG14_HUMAN	N	206	ENSP00000354090:D206N	ENSP00000354090:D206N	D	-	1	0	SIGLEC14	56840931	0.839000	0.29477	0.567000	0.28434	0.224000	0.24922	0.200000	0.17257	1.755000	0.51935	0.514000	0.50259	GAC	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom		0.642	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	protein_coding	OTTHUMT00000466899.2	C	NM_001098612	-		52149119	-1	no_errors	ENST00000360844	ensembl	human	known	74_37	missense	SNP	0.546	T	T	52149119	C	T	52149119	3	4	102	1	0	0	0	0	1	0	0	0	14317	855	30	2	594	2	SIGLEC14	19	52149119	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	188244	52149119	6979864	697	6607											
HAS1	3036	genome.wustl.edu	37	chr19	52217193	52217193	+	Silent	SNP	G	G	A													acgaagaaggggaacaggccGgagaccaccgcctcgtaggt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52217193G>A	ENST00000222115.1	-	5	1258	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	HAS1_ENST00000601714.1_Silent_p.S415S|HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000540069.2_Silent_p.S407S	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	408					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGAACAGGCCGGAGACCACCG	0.662																																					NSCLC(132;636 2450 45807 47979)												0								ENSG00000105509																																			HAS1	SO:0001819	synonymous_variant	0			-	HGNC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1224C>T	19.37:g.52217193G>A		Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q14470|Q9NS49	Silent	SNP							pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.S415	ENST00000222115.1	37	c.1245	CCDS12838.1	19																																																																																			-	NULL		0.662	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	G	NM_001523	-		52217193	-1	no_errors	ENST00000601714	ensembl	human	known	74_37	silent	SNP	0.970	A	A	52217193	G	A	52217193	2	1	102	1	0	0	0	0	0	0	0	1	6963	1103	39	1		1	HAS1	19	52217193	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	68074	52217193	6911790	698	6608	97	2									
HAS1	3036	genome.wustl.edu	37	chr19	52217194	52217194	+	Missense_Mutation	SNP	G	G	A													cgaagaaggggaacaggccgGagaccaccgcctcgtaggtc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52217194G>A	ENST00000222115.1	-	5	1257	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	HAS1_ENST00000601714.1_Missense_Mutation_p.S415F|HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000540069.2_Missense_Mutation_p.S407F	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	408					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAACAGGCCGGAGACCACCGC	0.662																																					NSCLC(132;636 2450 45807 47979)												0								ENSG00000105509						56	46	50					19																	52217194		2201	4300	6501	HAS1	SO:0001583	missense	0			-	HGNC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1223C>T	19.37:g.52217194G>A	ENSP00000222115:p.Ser408Phe	Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q14470|Q9NS49	Missense_Mutation	SNP							pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.S415F	ENST00000222115.1	37	c.1244	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	g	15.89	2.965668	0.53507	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.58652	0.32;0.32	3.19	3.19	0.36642	.	0.175066	0.38778	U	0.001576	T	0.64538	0.2607	L	0.39898	1.24	0.51012	D	0.9999	D;D;D	0.69078	0.997;0.994;0.994	D;P;P	0.66716	0.946;0.885;0.839	T	0.67864	-0.5560	10	0.66056	D	0.02	-28.6401	12.2755	0.54733	0.0:0.0:1.0:0.0	.	407;408;407	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	F	407;408	ENSP00000445021:S407F;ENSP00000222115:S408F	ENSP00000222115:S408F	S	-	2	0	HAS1	56909006	1.000000	0.71417	0.980000	0.43619	0.231000	0.25187	9.488000	0.97947	1.812000	0.52913	0.165000	0.16767	TCC	-	NULL		0.662	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	G	NM_001523	-		52217194	-1	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	SNP	0.988	A	A	52217194	G	A	52217194	3	1	102	1	0	0	0	0	1	0	0	0	6963	1174	41	2	517	2	HAS1	19	52217194	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	52217194	6911789	699	6609	97	2									
ZNF615	284370	genome.wustl.edu	37	chr19	52496272	52496272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgtagtgaaggctttcCcgcagtcactgcatttgtac	9	9	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52496272C>T	ENST00000602063.1	-	6	2406	c.2057G>A	c.(2056-2058)gGg>gAg	p.G686E	ZNF615_ENST00000376716.5_Missense_Mutation_p.G686E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G691E|ZNF615_ENST00000594083.1_Missense_Mutation_p.G697E|ZNF615_ENST00000598071.1_Missense_Mutation_p.G697E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	686					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GAAGGCTTTCCCGCAGTCACT	0.423																																																	0								ENSG00000197619						165	161	163					19																	52496272		2203	4300	6503	ZNF615	SO:0001583	missense	0			-	HGNC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2057G>A	19.37:g.52496272C>T	ENSP00000473089:p.Gly686Glu	Somatic	0	101	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	62	11.43	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G697E	ENST00000602063.1	37	c.2090	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190633	0.09547	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.06933	3.24;3.24	3.14	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23532	0.0569	L	0.56769	1.78	0.24072	N	0.995978	D;B;B;D	0.89917	1.0;0.045;0.045;1.0	D;B;B;D	0.83275	0.996;0.039;0.039;0.996	T	0.05818	-1.0862	9	0.51188	T	0.08	.	12.4018	0.55418	0.0:0.8994:0.0:0.1006	.	691;693;697;686	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	686;696;691;640	ENSP00000365906:G686E;ENSP00000375672:G691E	ENSP00000347019:G696E	G	-	2	0	ZNF615	57188084	0.000000	0.05858	0.712000	0.30502	0.235000	0.25334	0.144000	0.16135	0.180000	0.19960	-0.797000	0.03246	GGG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	protein_coding	OTTHUMT00000462391.1	C	NM_198480	-		52496272	-1	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52496272	C	T	52496272	3	4	102	1	0	0	0	0	1	0	0	0	18047	623	22	2	142	2	ZNF615	19	52496272	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	279078	52496272	6632711	700	6610											
ZNF528	84436	genome.wustl.edu	37	chr19	52919608	52919608	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtaacagatgtggcaaggtCttcagtcgcagttcaaacct	10	9	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52919608C>T	ENST00000360465.3	+	7	1929	c.1503C>T	c.(1501-1503)gtC>gtT	p.V501V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	501					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGCAAGGTCTTCAGTCGCA	0.393																																																	0								ENSG00000167555						51	49	50					19																	52919608		2203	4300	6503	ZNF528	SO:0001819	synonymous_variant	0			-	HGNC	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1503C>T	19.37:g.52919608C>T		Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B3KPN4|Q86T88|Q96JK0	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V501	ENST00000360465.3	37	c.1503	CCDS33091.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	protein_coding	OTTHUMT00000344336.1	C	NM_032423	-		52919608	1	no_errors	ENST00000360465	ensembl	human	known	74_37	silent	SNP	0.231	T	T	52919608	C	T	52919608	2	4	102	1	0	0	0	0	0	0	0	1	17976	900	32	2		2	ZNF528	19	52919608	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	423336	52919608	6209375	701	6611											
NLRP12	91662	genome.wustl.edu	37	chr19	54313970	54313970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgtgggccgtttctcctCccagcagaggcaccagggtc	12	16	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:54313970C>T	ENST00000324134.6	-	3	1111	c.943G>A	c.(943-945)Gag>Aag	p.E315K	NLRP12_ENST00000351894.4_Missense_Mutation_p.E315K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E315K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E315K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E315K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E315K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E315K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E315K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	315	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGTTTCTCCTCCCAGCAGAGG	0.567																																																	0								ENSG00000142405						43	46	45					19																	54313970		2203	4300	6503	NLRP12	SO:0001583	missense	0			-	HGNC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.943G>A	19.37:g.54313970C>T	ENSP00000319377:p.Glu315Lys	Somatic	0	66	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E315K	ENST00000324134.6	37	c.943	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	5.669	0.307991	0.10733	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.47	1.86	0.25419	NACHT nucleoside triphosphatase (1);	0.376195	0.19820	N	0.105322	T	0.54143	0.1840	N	0.11756	0.17	0.80722	D	1	B;B;B;B	0.25772	0.134;0.065;0.003;0.036	B;B;B;B	0.23852	0.033;0.033;0.008;0.049	T	0.39683	-0.9602	10	0.21540	T	0.41	.	5.8769	0.18834	0.0:0.6394:0.2124:0.1482	.	315;315;315;315	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	315	ENSP00000319377:E315K;ENSP00000438030:E315K;ENSP00000340473:E315K;ENSP00000346231:E315K;ENSP00000375655:E315K;ENSP00000375653:E315K;ENSP00000375652:E315K	ENSP00000319377:E315K	E	-	1	0	NLRP12	59005782	0.000000	0.05858	0.995000	0.50966	0.414000	0.31173	-0.317000	0.08060	1.005000	0.39183	0.306000	0.20318	GAG	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	C	NM_144687	-		54313970	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	SNP	0.995	T	T	54313970	C	T	54313970	3	4	102	1	0	0	0	0	1	0	0	0	10476	864	30	2	2370	2	NLRP12	19	54313970	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1394362	54313970	4815013	702	6612											
MBOAT7	79143	genome.wustl.edu	37	chr19	54687475	54687475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcacgtcgggcagcagcCccagggtgggccccttgctg	17	14	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:54687475C>T	ENST00000245615.1	-	5	902	c.422G>A	c.(421-423)gGg>gAg	p.G141E	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.G68E|MBOAT7_ENST00000338624.6_Missense_Mutation_p.G68E|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G141E	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	141					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCAGCAGCCCCAGGGTGGG	0.622																																					NSCLC(97;826 2151 10470 22540)												0								ENSG00000125505						90	76	81					19																	54687475		2203	4300	6503	MBOAT7	SO:0001583	missense	0			-	HGNC	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.422G>A	19.37:g.54687475C>T	ENSP00000245615:p.Gly141Glu	Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP							pfam_MBOAT_fam	p.G141E	ENST00000245615.1	37	c.422	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	C	7.156	0.584652	0.13749	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.2	4.2	0.49525	.	0.121256	0.56097	D	0.000038	T	0.67116	0.2859	L	0.51422	1.61	0.32776	N	0.503107	P;P;B	0.51933	0.509;0.949;0.316	B;P;B	0.48873	0.133;0.593;0.091	T	0.68557	-0.5377	10	0.02654	T	1	-19.4442	15.861	0.79021	0.0:1.0:0.0:0.0	.	123;68;141	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	E	68;68;141;93;141;141;141	ENSP00000410503:G68E;ENSP00000344377:G68E;ENSP00000245615:G141E;ENSP00000375634:G141E;ENSP00000388250:G141E	ENSP00000245615:G141E	G	-	2	0	MBOAT7	59379287	0.998000	0.40836	0.870000	0.34147	0.948000	0.59901	3.639000	0.54339	2.111000	0.64477	0.442000	0.29010	GGG	-	pfam_MBOAT_fam		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	protein_coding	OTTHUMT00000142203.1	C	NM_024298	-		54687475	-1	no_errors	ENST00000245615	ensembl	human	known	74_37	missense	SNP	0.913	T	T	54687475	C	T	54687475	3	4	102	1	0	0	0	0	1	0	0	0	9360	623	22	2	1016	2	MBOAT7	19	54687475	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	373505	54687475	4441508	703	6613											
LILRA1	11024	genome.wustl.edu	37	chr19	55107114	55107114	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttttcccaggtgtttctaaGaagccatcactctcagtgca	7	12	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:55107114G>A	ENST00000251372.3	+	6	854	c.672G>A	c.(670-672)aaG>aaA	p.K224K	LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	224	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGTTTCTAAGAAGCCATCAC	0.567																																																	0								ENSG00000104974						100	104	103					19																	55107114		2203	4300	6503	LILRA1	SO:0001819	synonymous_variant	0			-	HGNC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.672G>A	19.37:g.55107114G>A		Somatic	0	119	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	O75018|Q3MJA6	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.K224	ENST00000251372.3	37	c.672	CCDS12901.1	19																																																																																			-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	protein_coding	OTTHUMT00000140807.2	G	NM_006863	-		55107114	1	no_errors	ENST00000251372	ensembl	human	known	74_37	silent	SNP	0.007	A	A	55107114	G	A	55107114	2	1	102	1	0	0	0	0	0	0	0	1	8786	933	33	2		2	LILRA1	19	55107114	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	419639	55107114	4021869	704	6614											
KIR2DL1	3811	genome.wustl.edu	37	chr19	55281320	55281320	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatgtcgctcttggtcgtCagcatggcgtgtgttggtga	14	9	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:55281320C>T	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.V6V|KIR2DL1_ENST00000291633.7_Silent_p.V6V|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGGTCGTCAGCATGGCGT	0.612											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000125498						120	104	109					19																	55281320		2157	4193	6350	KIR2DL1	SO:0001627	intron_variant	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+45285C>T	19.37:g.55281320C>T		Somatic	0	139	0	1006	0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	74	25.25	O43473|Q14946|Q16541	Silent	SNP							pfam_Immunoglobulin,smart_Ig_sub	p.V6	ENST00000538269.1	37	c.18		19																																																																																			-	NULL		0.612	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	protein_coding		C	NM_013289	-		55281320	1	no_errors	ENST00000336077	ensembl	human	known	74_37	silent	SNP	0.925	T	T	55281320	C	T	55281320	1	4	102	0	1	0	0	0	0	0	0	0	8318	813	29	2		2	KIR2DL1	19	55281320	Intron	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	174206	55281320	3847663	705	6615											
NCR1	9437	genome.wustl.edu	37	chr19	55420788	55420788	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagttccccctgggccctgtGaccacagcccaccgagggac	12	17	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:55420788G>A	ENST00000291890.4	+	4	578	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NCR1_ENST00000357397.5_Silent_p.V73V|NCR1_ENST00000350790.5_Silent_p.V85V|NCR1_ENST00000338835.5_Silent_p.V180V|NCR1_ENST00000598576.1_Silent_p.V168V|NCR1_ENST00000447255.1_Silent_p.V180V|NCR1_ENST00000594765.1_Silent_p.V180V	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	180	Ig-like 2.				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)			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)		TGGGCCCTGTGACCACAGCCC	0.577																																																	0								ENSG00000189430						90	86	87					19																	55420788		2203	4300	6503	NCR1	SO:0001819	synonymous_variant	0			-	HGNC	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.540G>A	19.37:g.55420788G>A		Somatic	0	53	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP							smart_Ig_sub	p.V180	ENST00000291890.4	37	c.540	CCDS12911.1	19																																																																																			-	smart_Ig_sub		0.577	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	G		-		55420788	1	no_errors	ENST00000291890	ensembl	human	known	74_37	silent	SNP	0.014	A	A	55420788	G	A	55420788	2	1	102	1	0	0	0	0	0	0	0	1	10239	1277	45	2		2	NCR1	19	55420788	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	139468	55420788	3708195	706	6616											
U2AF2	11338	genome.wustl.edu	37	chr19	56180472	56180472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcggggctgaacggcatGcagctgggggataagaagct	17	7	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:56180472G>A	ENST00000308924.4	+	10	1009	c.969G>A	c.(967-969)atG>atA	p.M323I	U2AF2_ENST00000590551.1_Missense_Mutation_p.M159I|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.M323I|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	323	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|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)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGAACGGCATGCAGCTGGGGG	0.652																																																	0								ENSG00000063244						39	39	39					19																	56180472		2203	4300	6503	U2AF2	SO:0001583	missense	0			-	HGNC	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.969G>A	19.37:g.56180472G>A	ENSP00000307863:p.Met323Ile	Somatic	0	139	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	58	25.64	Q96HC5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.M323I	ENST00000308924.4	37	c.969	CCDS12933.1	19	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638527	0.87760	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.15372	2.43;2.43	3.63	3.63	0.41609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.28504	0.86	0.80722	D	1	D;P	0.76494	0.999;0.947	D;P	0.87578	0.998;0.756	T	0.03025	-1.1081	10	0.37606	T	0.19	-25.8126	14.6193	0.68572	0.0:0.0:1.0:0.0	.	323;323	P26368;P26368-2	U2AF2_HUMAN;.	I	323	ENSP00000307863:M323I;ENSP00000388475:M323I	ENSP00000307863:M323I	M	+	3	0	U2AF2	60872284	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.789000	0.91839	2.054000	0.61138	0.591000	0.81541	ATG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg		0.652	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	protein_coding	OTTHUMT00000453599.1	G	NM_007279	-		56180472	1	no_errors	ENST00000308924	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56180472	G	A	56180472	3	1	102	1	0	0	0	0	1	0	0	0	16830	1319	46	2	1007	2	U2AF2	19	56180472	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	759684	56180472	2948511	707	6617											
ZIM2	23619	genome.wustl.edu	37	chr19	57286738	57286738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggatcctttcctagaGgatcctttgattgtttacta	9	9	0	2	rs146726213	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:57286738G>A	ENST00000391708.3	-	12	1444	c.902C>T	c.(901-903)cCt>cTt	p.P301L	ZIM2_ENST00000221722.5_Missense_Mutation_p.P301L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P301L|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.P301L|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.P301L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	301					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTTTCCTAGAGGATCCTTTGA	0.443													G|||	13	0.00259585	0	0	5008	,	,		18770	0		0	False		,,,				2504	0.0133																0								ENSG00000269699	G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	118	114	115		902,902,902	-3.5	0	19	dbSNP_134	115	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense	ZIM2	NM_001146326.1,NM_001146327.1,NM_015363.4	98,98,98	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	,,	301/528,301/528,301/528	57286738	15,12991	2203	4300	6503	ZIM2	SO:0001583	missense	0			-	HGNC	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.902C>T	19.37:g.57286738G>A	ENSP00000375589:p.Pro301Leu	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	Q2M3K1	Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P301L	ENST00000391708.3	37	c.902	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127356	0.20959	0.0	0.001744	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04917	3.53;3.53	3.89	-3.49	0.04724	.	.	.	.	.	T	0.03827	0.0108	N	0.12182	0.205	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.31364	-0.9946	8	0.62326	D	0.03	.	11.1557	0.48486	0.3184:0.0:0.6816:0.0	.	301	Q9NZV7	ZIM2_HUMAN	L	301	ENSP00000375589:P301L;ENSP00000221722:P301L	ENSP00000221722:P301L	P	-	2	0	ZIM2	61978550	0.003000	0.15002	0.000000	0.03702	0.050000	0.14768	0.636000	0.24644	-0.521000	0.06426	-1.105000	0.02106	CCT	-	NULL		0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	protein_coding	OTTHUMT00000416094.2	G		rs146726213		57286738	-1	no_errors	ENST00000221722	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57286738	G	A	57286738	3	1	102	1	0	0	0	0	1	0	0	0	17691	1000	35	2	685	2	ZIM2	19	57286738	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1106266	57286738	1842245	708	6618											
AURKC	6795	genome.wustl.edu	37	chr19	57746716	57746716	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactgcccctggcccagatCctgaagcacccctgggttca	10	16	1	3	rs565008485		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:57746716C>T	ENST00000302804.7	+	7	1047	c.861C>T	c.(859-861)atC>atT	p.I287I	AURKC_ENST00000415300.2_Silent_p.I268I|AURKC_ENST00000599062.1_Silent_p.I284I|AURKC_ENST00000598785.1_Silent_p.I253I|AURKC_ENST00000448930.1_Silent_p.I253I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	287	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)		TGGCCCAGATCCTGAAGCACC	0.592													C|||	1	0.000199681	0	0	5008	,	,		14377	0		0	False		,,,				2504	0.001																0								ENSG00000105146						74	76	75					19																	57746716		2203	4300	6503	AURKC	SO:0001819	synonymous_variant	0			-	HGNC		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.861C>T	19.37:g.57746716C>T		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I287	ENST00000302804.7	37	c.861	CCDS33128.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.592	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	protein_coding	OTTHUMT00000465089.1	C	NM_003160	-		57746716	1	no_errors	ENST00000302804	ensembl	human	known	74_37	silent	SNP	0.301	T	T	57746716	C	T	57746716	2	4	102	1	0	0	0	0	0	0	0	1	1224	845	30	2		2	AURKC	19	57746716	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	459978	57746716	1382267	709	6619											
ZNF418	147686	genome.wustl.edu	37	chr19	58441844	58441844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcacgtcatggtaaaGgcatctctgaacctcactaa	7	12	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:58441844G>A	ENST00000396147.1	-	3	376	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	ZNF418_ENST00000595830.1_Missense_Mutation_p.L29F|ZNF418_ENST00000425570.3_Missense_Mutation_p.L50F|ZNF418_ENST00000600989.1_Missense_Mutation_p.L29F|ZNF418_ENST00000599852.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	29	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)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCATGGTAAAGGCATCTCTGA	0.498																																																	0								ENSG00000196724						179	170	173					19																	58441844		2203	4300	6503	ZNF418	SO:0001583	missense	0			-	HGNC	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.85C>T	19.37:g.58441844G>A	ENSP00000379451:p.Leu29Phe	Somatic	0	178	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	72	17.24	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L29F	ENST00000396147.1	37	c.85	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	14.48	2.548862	0.45383	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.04406	3.63;3.63	2.75	-0.999	0.10208	Krueppel-associated box (4);	.	.	.	.	T	0.29524	0.0736	H	0.98542	4.26	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.04961	-1.0915	9	0.87932	D	0	.	6.7752	0.23617	0.3611:0.0:0.6389:0.0	.	29	Q8TF45	ZN418_HUMAN	F	29;50	ENSP00000379451:L29F;ENSP00000407039:L50F	ENSP00000379451:L29F	L	-	1	0	ZNF418	63133656	0.114000	0.22134	0.000000	0.03702	0.269000	0.26545	0.838000	0.27572	-0.237000	0.09739	0.313000	0.20887	CTT	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	protein_coding	OTTHUMT00000466693.1	G	NM_133460	-		58441844	-1	no_errors	ENST00000396147	ensembl	human	known	74_37	missense	SNP	0.003	A	A	58441844	G	A	58441844	3	1	102	1	0	0	0	0	1	0	0	0	17902	1000	35	2	1953	2	ZNF418	19	58441844	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	695128	58441844	687139	710	6620											
ZNF606	80095	genome.wustl.edu	37	chr19	58499577	58499577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggtctgccctcacctGgacaagtgcgttgaggacat	13	12	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:58499577G>A	ENST00000341164.4	-	6	1018	c.398C>T	c.(397-399)cCa>cTa	p.P133L	ZNF606_ENST00000536132.1_Missense_Mutation_p.P43L|ZNF606_ENST00000552579.1_5'Flank	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	133	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCCCTCACCTGGACAAGTGCG	0.532																																																	0								ENSG00000166704						95	76	83					19																	58499577		2203	4300	6503	ZNF606	SO:0001583	missense	0			-	HGNC	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.398C>T	19.37:g.58499577G>A	ENSP00000343617:p.Pro133Leu	Somatic	0	29	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P133L	ENST00000341164.4	37	c.398	CCDS12968.1	19	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301430	0.40694	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.24908	1.83;3.01;1.83	3.82	3.82	0.43975	Krueppel-associated box (1);	0.358435	0.20611	N	0.088966	T	0.20820	0.0501	L	0.42245	1.32	0.40485	D	0.98048	B	0.29301	0.241	B	0.27887	0.084	T	0.05566	-1.0877	10	0.27785	T	0.31	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	133	Q8WXB4	ZN606_HUMAN	L	133;43;133	ENSP00000343617:P133L;ENSP00000445624:P43L;ENSP00000446972:P133L	ENSP00000343617:P133L	P	-	2	0	ZNF606	63191389	1.000000	0.71417	0.991000	0.47740	0.121000	0.20230	3.169000	0.50809	2.134000	0.65973	0.462000	0.41574	CCA	-	pfscan_Krueppel-associated_box		0.532	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	protein_coding	OTTHUMT00000405961.1	G	NM_025027	-		58499577	-1	no_errors	ENST00000341164	ensembl	human	known	74_37	missense	SNP	0.994	A	A	58499577	G	A	58499577	3	1	102	1	0	0	0	0	1	0	0	0	18039	1348	47	2	1988	2	ZNF606	19	58499577	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	57733	58499577	629406	711	6621											
ZNF446	55663	genome.wustl.edu	37	chr19	58988612	58988612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctctgggtcccccatgCctgcccgtcatggacccaga	9	19	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:58988612C>T	ENST00000594369.1	+	2	408	c.27C>T	c.(25-27)tgC>tgT	p.C9C	ZNF446_ENST00000335841.4_Silent_p.C9C|CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Silent_p.C9C	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	9					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		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)		GTCCCCCATGCCTGCCCGTCA	0.612																																																	0								ENSG00000083838						85	100	95					19																	58988612		2199	4298	6497	ZNF446	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.27C>T	19.37:g.58988612C>T		Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C9	ENST00000594369.1	37	c.27	CCDS12982.1	19																																																																																			-	NULL		0.612	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	protein_coding	OTTHUMT00000467052.1	C	NM_017908	-		58988612	1	no_errors	ENST00000594369	ensembl	human	known	74_37	silent	SNP	0.047	T	T	58988612	C	T	58988612	2	4	102	1	0	0	0	0	0	0	0	1	17926	747	26	2		2	ZNF446	19	58988612	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	489035	58988612	140371	712	6622											
PSMF1	9491	genome.wustl.edu	37	chr20	1115795	1115795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagtgaggagcttcggtctCgtattgtgtctggaatcatc	12	8	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:1115795C>T	ENST00000335877.6	+	4	573	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R45C|PSMF1_ENST00000333082.3_Missense_Mutation_p.R133C|PSMF1_ENST00000246015.4_Missense_Mutation_p.R133C|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	133	Important for homodimerization and interaction with FBXO7.				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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GCTTCGGTCTCGTATTGTGTC	0.532																																																	0								ENSG00000125818						123	107	113					20																	1115795		2203	4300	6503	PSMF1	SO:0001583	missense	0			-	HGNC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.397C>T	20.37:g.1115795C>T	ENSP00000338039:p.Arg133Cys	Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP							pfam_FP_dom,pfam_PI31_Prot_Reg	p.R133C	ENST00000335877.6	37	c.397	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728018	0.69074	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.22	4.23	0.50019	.	0.118042	0.53938	D	0.000057	T	0.53302	0.1788	L	0.54323	1.7	0.43476	D	0.99569	D;D;D;D	0.71674	0.994;0.997;0.998;0.997	P;P;P;P	0.60345	0.707;0.873;0.646;0.646	T	0.52830	-0.8523	10	0.54805	T	0.06	-2.4416	12.5644	0.56301	0.1653:0.8346:0.0:0.0	.	45;45;133;133	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	C	133;45;133;45;133;133	ENSP00000327704:R133C;ENSP00000371323:R45C;ENSP00000371324:R133C;ENSP00000246015:R133C;ENSP00000338039:R133C	ENSP00000246015:R133C	R	+	1	0	PSMF1	1063795	0.981000	0.34729	0.985000	0.45067	0.996000	0.88848	1.234000	0.32660	2.712000	0.92718	0.650000	0.86243	CGT	-	pfam_FP_dom		0.532	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	protein_coding	OTTHUMT00000077504.2	C	NM_178578	-		1115795	1	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	SNP	0.961	T	T	1115795	C	T	1115795	3	4	102	1	0	0	0	0	1	0	0	0	12715	884	31	1	411	1	PSMF1	20	1115795	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		1115795	61909725	713	6623											
TGM3	7053	genome.wustl.edu	37	chr20	2293563	2293563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaagaagacattctcaGcatctgcctctcaatcttgg	8	10	4	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:2293563G>A	ENST00000381458.5	+	5	623	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	187					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GACATTCTCAGCATCTGCCTC	0.473																																																	0								ENSG00000125780						195	181	186					20																	2293563		2203	4300	6503	TGM3	SO:0001583	missense	0			-	HGNC	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.560G>A	20.37:g.2293563G>A	ENSP00000370867:p.Ser187Asn	Somatic	0	78	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S187N	ENST00000381458.5	37	c.560	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	2.441	-0.328522	0.05314	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.88664	-2.41	5.79	0.27	0.15635	.	0.610250	0.19444	N	0.114119	T	0.53916	0.1826	N	0.00099	-2.14	0.22851	N	0.998651	B	0.02656	0.0	B	0.01281	0.0	T	0.59883	-0.7370	10	0.12103	T	0.63	.	5.1999	0.15258	0.5444:0.1418:0.3139:0.0	.	187	Q08188	TGM3_HUMAN	N	187	ENSP00000370867:S187N	ENSP00000370867:S187N	S	+	2	0	TGM3	2241563	0.978000	0.34361	0.990000	0.47175	0.614000	0.37383	1.082000	0.30803	-0.208000	0.10171	-0.314000	0.08810	AGC	-	NULL		0.473	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	protein_coding	OTTHUMT00000077579.2	G	NM_003245	-		2293563	1	no_errors	ENST00000381458	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2293563	G	A	2293563	3	1	102	1	0	0	0	0	1	0	0	0	15838	971	34	2	578	2	TGM3	20	2293563	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1177768	2293563	60731957	714	6624											
FAM113A	64773	genome.wustl.edu	37	chr20	2819117	2819117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagggagcctgccaggGgctggagctaagtgagaaag	18	9	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:2819117G>A	ENST00000360652.2	-	6	1104	c.602C>T	c.(601-603)cCc>cTc	p.P201L	VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.P150L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	201																	GCCTGCCAGGGGCTGGAGCTA	0.567																																																	0								ENSG00000132635						48	53	51					20																	2819117		2203	4300	6503	PCED1A	SO:0001583	missense	0			-	HGNC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.602C>T	20.37:g.2819117G>A	ENSP00000353868:p.Pro201Leu	Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP							NULL	p.P201L	ENST00000360652.2	37	c.602	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081108	0.07141	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.28	4.28	0.50868	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.205283	0.40728	N	0.001038	T	0.16257	0.0391	N	0.12182	0.205	0.46586	D	0.999119	B;D;B;B	0.71674	0.001;0.998;0.157;0.0	B;P;B;B	0.58620	0.007;0.842;0.176;0.004	T	0.06338	-1.0832	10	0.11182	T	0.66	-7.6263	12.4152	0.55490	0.0:0.0:1.0:0.0	.	150;197;48;201	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	L	150;201;150;201	ENSP00000349334:P150L;ENSP00000353868:P201L;ENSP00000388935:P150L;ENSP00000401711:P201L	ENSP00000349334:P150L	P	-	2	0	FAM113A	2767117	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.139000	0.50577	2.397000	0.81536	0.563000	0.77884	CCC	-	NULL		0.567	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	protein_coding	OTTHUMT00000077676.2	G	NM_022760	-		2819117	-1	no_errors	ENST00000360652	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2819117	G	A	2819117	3	1	102	1	0	0	0	0	1	0	0	0	5403	1232	43	2	774	2	FAM113A	20	2819117	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	525554	2819117	60206403	715	6625											
CDC25B	994	genome.wustl.edu	37	chr20	3782642	3782642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcgtgatccggccCatcctcaagaggctggagcg	13	15	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:3782642C>T	ENST00000245960.5	+	10	1690	c.993C>T	c.(991-993)ccC>ccT	p.P331P	CDC25B_ENST00000340833.4_Silent_p.P290P|CDC25B_ENST00000439880.2_Silent_p.P317P|CDC25B_ENST00000379598.5_Silent_p.P240P|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.P267P	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	331					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TGATCCGGCCCATCCTCAAGA	0.657																																																	0								ENSG00000101224						24	22	23					20																	3782642		2202	4300	6502	CDC25B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.993C>T	20.37:g.3782642C>T		Somatic	0	79	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP							pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.P331	ENST00000245960.5	37	c.993	CCDS13067.1	20																																																																																			-	pfam_MPI_Phosphatase		0.657	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	protein_coding	OTTHUMT00000077779.2	C	NM_021874	-		3782642	1	no_errors	ENST00000245960	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3782642	C	T	3782642	2	4	102	1	0	0	0	0	0	0	0	1	3065	581	21	2		2	CDC25B	20	3782642	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	963525	3782642	59242878	716	6626											
HAO1	54363	genome.wustl.edu	37	chr20	7886854	7886854	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagtcttctcagccatTtgatatcttcccagctgata	6	11	4	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:7886854T>A	ENST00000378789.3	-	4	719	c.668A>T	c.(667-669)aAa>aTa	p.K223I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	223	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						TCTCAGCCATTTGATATCTTC	0.393																																																	0								ENSG00000101323						160	150	153					20																	7886854		2203	4300	6503	HAO1	SO:0001583	missense	0			-	HGNC	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.668A>T	20.37:g.7886854T>A	ENSP00000368066:p.Lys223Ile	Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP							pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.K223I	ENST00000378789.3	37	c.668	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715703	0.48622	.	.	ENSG00000101323	ENST00000378789	T	0.34667	1.35	5.54	1.47	0.22746	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.458425	0.27240	N	0.020280	T	0.37376	0.1001	M	0.66506	2.035	0.33261	D	0.559765	B;B	0.02656	0.0;0.0	B;B	0.17098	0.017;0.017	T	0.50874	-0.8776	10	0.51188	T	0.08	-4.7396	14.2847	0.66238	0.0:0.0:0.356:0.644	.	223;223	A8K058;Q9UJM8	.;HAOX1_HUMAN	I	223	ENSP00000368066:K223I	ENSP00000368066:K223I	K	-	2	0	HAO1	7834854	0.351000	0.24887	0.989000	0.46669	0.987000	0.75469	0.571000	0.23669	0.333000	0.23563	0.482000	0.46254	AAA	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.393	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	protein_coding	OTTHUMT00000077926.2	T		-		7886854	-1	no_errors	ENST00000378789	ensembl	human	known	74_37	missense	SNP	0.929	A	A	7886854	T	A	7886854	3	1	102	1	0	0	0	0	1	0	0	0	6953	1841	64	5	464	5	HAO1	20	7886854	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	4104212	7886854	55138666	717	6627											
PLCB1	23236	genome.wustl.edu	37	chr20	8626812	8626812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaacatgtccagggatGcatttctggaaaaagcgtaa	9	9	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:8626812G>A	ENST00000338037.6	+	5	475	c.448G>A	c.(448-450)Gca>Aca	p.A150T	PLCB1_ENST00000378641.3_Missense_Mutation_p.A150T|PLCB1_ENST00000378637.2_Missense_Mutation_p.A150T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	150					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTCCAGGGATGCATTTCTGGA	0.398																																																	0								ENSG00000182621						124	120	121					20																	8626812		2203	4300	6503	PLCB1	SO:0001583	missense	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.448G>A	20.37:g.8626812G>A	ENSP00000338185:p.Ala150Thr	Somatic	0	81	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A150T	ENST00000338037.6	37	c.448	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	7.796	0.712514	0.15306	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.07	6.07	0.98685	.	0.051659	0.85682	D	0.000000	T	0.27866	0.0686	N	0.00742	-1.23	0.49130	D	0.999759	B;B;B;D	0.65815	0.002;0.001;0.022;0.995	B;B;B;P	0.59643	0.007;0.003;0.012;0.861	T	0.40251	-0.9573	10	0.02654	T	1	.	20.2389	0.98366	0.0:0.0:1.0:0.0	.	49;150;150;149	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	T	150;150;150;149;70;70	ENSP00000367908:A150T;ENSP00000338185:A150T;ENSP00000367904:A150T;ENSP00000384001:A149T	ENSP00000338185:A150T	A	+	1	0	PLCB1	8574812	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	3.943000	0.56621	2.890000	0.99128	0.650000	0.86243	GCA	-	pirsf_PLC-beta		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	G		-		8626812	1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	SNP	0.993	A	A	8626812	G	A	8626812	3	1	102	1	0	0	0	0	1	0	0	0	12029	1319	46	2	466	2	PLCB1	20	8626812	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	739958	8626812	54398708	718	6628											
PLCB4	5332	genome.wustl.edu	37	chr20	9288516	9288516	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttccctcctttttgcaaGaaggagcagtttttgacaga	9	8	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:9288516G>A	ENST00000378493.1	+	1	70	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E19K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E19K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E19K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E19K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E19K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	19					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTTTTGCAAGAAGGAGCAGT	0.308																																																	0								ENSG00000101333						64	59	61					20																	9288516		2203	4298	6501	PLCB4	SO:0001583	missense	0			-	HGNC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.55G>A	20.37:g.9288516G>A	ENSP00000367754:p.Glu19Lys	Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E19K	ENST00000378493.1	37	c.55	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990328	0.35131	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000416836;ENST00000278655;ENST00000378493;ENST00000378501	T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.86	5.86	0.93980	Pleckstrin homology-type (1);	0.202236	0.51477	D	0.000092	T	0.23806	0.0576	N	0.03324	-0.35	0.38699	D	0.95293	B;B;B	0.20780	0.0;0.048;0.0	B;B;B	0.15870	0.001;0.014;0.002	T	0.13522	-1.0506	10	0.20519	T	0.43	.	18.9701	0.92711	0.0:0.0:1.0:0.0	.	19;19;19	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	K	19	ENSP00000385805:E19K;ENSP00000412982:E19K;ENSP00000334105:E19K;ENSP00000367734:E19K;ENSP00000391614:E19K;ENSP00000395753:E19K;ENSP00000278655:E19K;ENSP00000367754:E19K;ENSP00000367762:E19K	ENSP00000278655:E19K	E	+	1	0	PLCB4	9236516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.072000	0.76777	2.781000	0.95711	0.650000	0.86243	GAA	-	pirsf_PLC-beta		0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	G		-		9288516	1	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9288516	G	A	9288516	3	1	102	1	0	0	0	0	1	0	0	0	12032	943	33	2	57	2	PLCB4	20	9288516	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	661704	9288516	53737004	719	6629											
SNAP25	6616	genome.wustl.edu	37	chr20	10273570	10273570	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcatgaaccatatcaaCcaagacatgaaggaggctga	11	8	1	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:10273570C>T	ENST00000254976.2	+	5	374				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Silent_p.N68N	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACCATATCAACCAAGACATGA	0.423																																																	0								ENSG00000132639						115	110	112					20																	10273570		2203	4300	6503	SNAP25	SO:0001627	intron_variant	0			-	HGNC		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-239C>T	20.37:g.10273570C>T		Somatic	0	45	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP							pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.N68	ENST00000254976.2	37	c.204	CCDS13110.1	20																																																																																			-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.423	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	protein_coding	OTTHUMT00000077976.3	C	NM_130811	-		10273570	1	no_errors	ENST00000304886	ensembl	human	known	74_37	silent	SNP	1.000	T	T	10273570	C	T	10273570	1	4	102	0	1	0	0	0	0	0	0	0	14838	506	18	2		2	SNAP25	20	10273570	Intron	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	985054	10273570	52751950	720	6630											
JAG1	182	genome.wustl.edu	37	chr20	10627605	10627605	+	Missense_Mutation	SNP	C	C	T													actttcatggcagtatgttcCcgtgaagcctttgttacagt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:10627605C>T	ENST00000254958.5	-	14	2382	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R	JAG1_ENST00000423891.2_Missense_Mutation_p.G464R|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	623	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTATGTTCCCGTGAAGCCT	0.582									Alagille Syndrome																																								0								ENSG00000101384						174	158	163					20																	10627605		2203	4300	6503	JAG1	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1867G>A	20.37:g.10627605C>T	ENSP00000254958:p.Gly623Arg	Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.G623R	ENST00000254958.5	37	c.1867	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.260242	0.95368	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	T;T	0.76186	-1.0;-1.0	6.07	6.07	0.98685	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87992	0.2750	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	623	P78504	JAG1_HUMAN	R	623;464	ENSP00000254958:G623R;ENSP00000389519:G464R	ENSP00000254958:G623R	G	-	1	0	JAG1	10575605	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.776000	0.85560	2.884000	0.98904	0.655000	0.94253	GGA	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.582	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		C	NM_000214	-		10627605	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10627605	C	T	10627605	3	4	102	1	0	0	0	0	1	0	0	0	7936	632	22	2	1841	2	JAG1	20	10627605	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	354035	10627605	52397915	721	6631	98	2									
JAG1	182	genome.wustl.edu	37	chr20	10627606	10627606	+	Silent	SNP	C	C	T													ctttcatggcagtatgttccCgtgaagcctttgttacagtc					rs140624746		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:10627606C>T	ENST00000254958.5	-	14	2381	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	JAG1_ENST00000423891.2_Silent_p.T463T|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	622	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.T622T(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGTATGTTCCCGTGAAGCCTT	0.582									Alagille Syndrome																																								2	Substitution - coding silent(2)	lung(2)						ENSG00000101384	C		0,4406		0,0,2203	173	157	162		1866	-7.4	0.8	20	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAG1	NM_000214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		622/1219	10627606	1,13005	2203	4300	6503	JAG1	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1866G>A	20.37:g.10627606C>T		Somatic	0	87	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.T622	ENST00000254958.5	37	c.1866	CCDS13112.1	20																																																																																			-	pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.582	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		C	NM_000214	rs140624746		10627606	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	silent	SNP	0.328	T	T	10627606	C	T	10627606	2	4	102	1	0	0	0	0	0	0	0	1	7936	639	23	1		1	JAG1	20	10627606	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1	10627606	52397914	722	6632	98	2									
NANP	140838	genome.wustl.edu	37	chr20	25597014	25597014	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacgtgtagatttccaaagGaaataacattcttcagccaa	6	8	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:25597014G>A	ENST00000304788.3	-	2	520	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	98					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						ATTTCCAAAGGAAATAACATT	0.403																																																	0								ENSG00000170191						85	86	85					20																	25597014		2203	4300	6503	NANP	SO:0001819	synonymous_variant	0			-	HGNC	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"chromosome 20 open reading frame 147", "haloacid dehalogenase-like hydrolase domain containing 4"	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.294C>T	20.37:g.25597014G>A		Somatic	0	22	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA	p.F98	ENST00000304788.3	37	c.294	CCDS13173.1	20																																																																																			-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7		0.403	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	protein_coding	OTTHUMT00000078457.2	G	NM_152667	-		25597014	-1	no_errors	ENST00000304788	ensembl	human	known	74_37	silent	SNP	0.768	A	A	25597014	G	A	25597014	2	1	102	1	0	0	0	0	0	0	0	1	10156	1165	41	2		2	NANP	20	25597014	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	14969408	25597014	37428506	723	6633											
NECAB3	63941	genome.wustl.edu	37	chr20	32247711	32247711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgtcagaagagccggggGaccaggtggatgaccggctg	18	9	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:32247711G>A	ENST00000246190.6	-	7	678	c.623C>T	c.(622-624)tCc>tTc	p.S208F	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.S208F|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	208					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						AGAGCCGGGGGACCAGGTGGA	0.716																																																	0								ENSG00000125967						6	9	8					20																	32247711		1912	4009	5921	NECAB3	SO:0001583	missense	0			-	HGNC	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.623C>T	20.37:g.32247711G>A	ENSP00000246190:p.Ser208Phe	Somatic	0	14	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP							pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.S208F	ENST00000246190.6	37	c.623	CCDS42866.1	20	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292520	0.40594	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.25912	2.11;2.34;1.77	3.83	3.83	0.44106	.	0.528255	0.18559	N	0.137690	T	0.41050	0.1142	L	0.50333	1.59	0.34241	D	0.677687	D;D;D	0.61080	0.989;0.988;0.98	D;P;P	0.64042	0.921;0.805;0.844	T	0.55224	-0.8174	10	0.66056	D	0.02	-20.8533	11.9777	0.53103	0.0:0.0:1.0:0.0	.	85;208;208	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	F	208	ENSP00000364386:S208F;ENSP00000246190:S208F;ENSP00000392064:S208F	ENSP00000246190:S208F	S	-	2	0	NECAB3	31711372	0.998000	0.40836	0.994000	0.49952	0.036000	0.12997	4.145000	0.58065	2.076000	0.62316	0.462000	0.41574	TCC	-	NULL		0.716	NECAB3-010	KNOWN	basic|CCDS	protein_coding	NECAB3	protein_coding	OTTHUMT00000078724.2	G		-		32247711	-1	no_errors	ENST00000246190	ensembl	human	known	74_37	missense	SNP	0.998	A	A	32247711	G	A	32247711	3	1	102	1	0	0	0	0	1	0	0	0	10308	1174	41	2	591	2	NECAB3	20	32247711	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6650697	32247711	30777809	724	6634											
ZNF341	84905	genome.wustl.edu	37	chr20	32345021	32345021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacagccctggcaaacaggGattcaaacccaaaggaccaa	9	12	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:32345021G>A	ENST00000375200.1	+	6	1174	c.809G>A	c.(808-810)gGa>gAa	p.G270E	ZNF341_ENST00000342427.2_Missense_Mutation_p.G270E	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	270					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCAAACAGGGATTCAAACCC	0.602																																																	0								ENSG00000131061						121	119	120					20																	32345021		2203	4300	6503	ZNF341	SO:0001583	missense	0			-	HGNC	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.809G>A	20.37:g.32345021G>A	ENSP00000364346:p.Gly270Glu	Somatic	0	146	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	90	15.74	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G270E	ENST00000375200.1	37	c.809		20	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236542	0.39498	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10382	3.09;2.88	5.87	3.92	0.45320	.	0.335871	0.34507	N	0.003917	T	0.05777	0.0151	N	0.11560	0.145	0.30871	N	0.732444	B;B;B	0.13145	0.007;0.003;0.005	B;B;B	0.14578	0.005;0.005;0.011	T	0.16158	-1.0412	10	0.27785	T	0.31	-2.8414	9.5751	0.39452	0.2154:0.0:0.7846:0.0	.	211;270;270	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	E	270	ENSP00000344308:G270E;ENSP00000364346:G270E	ENSP00000344308:G270E	G	+	2	0	ZNF341	31808682	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	4.303000	0.59098	0.921000	0.36994	-0.150000	0.13652	GGA	-	NULL		0.602	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	protein_coding		G		-		32345021	1	no_errors	ENST00000375200	ensembl	human	known	74_37	missense	SNP	0.996	A	A	32345021	G	A	32345021	3	1	102	1	0	0	0	0	1	0	0	0	17864	1174	41	2	831	2	ZNF341	20	32345021	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	97310	32345021	30680499	725	6635											
EDEM2	55741	genome.wustl.edu	37	chr20	33711758	33711758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaatgttgtagaattccGggagccccccaaactgcttc	11	11	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:33711758G>A	ENST00000374492.3	-	9	1154	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	EDEM2_ENST00000541621.1_Missense_Mutation_p.P129L|EDEM2_ENST00000540582.1_Missense_Mutation_p.P309L|EDEM2_ENST00000374491.3_Missense_Mutation_p.P313L|EDEM2_ENST00000542871.1_Missense_Mutation_p.P74L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	350					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTAGAATTCCGGGAGCCCCCC	0.532																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0								ENSG00000088298						104	92	96					20																	33711758		2203	4300	6503	EDEM2	SO:0001583	missense	0			-	HGNC	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1049C>T	20.37:g.33711758G>A	ENSP00000363616:p.Pro350Leu	Somatic	0	85	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.P350L	ENST00000374492.3	37	c.1049	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.547583	0.96488	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;1.0;1.0	D	0.93671	0.6990	10	0.87932	D	0	-9.6464	20.3248	0.98698	0.0:0.0:1.0:0.0	.	309;129;313;350	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	L	313;350;129;74;309	ENSP00000363615:P313L;ENSP00000363616:P350L;ENSP00000443528:P129L;ENSP00000441642:P74L;ENSP00000441548:P309L	ENSP00000363615:P313L	P	-	2	0	EDEM2	33175419	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.869000	0.99810	2.818000	0.97014	0.655000	0.94253	CCG	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.532	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	protein_coding	OTTHUMT00000078842.2	G	NM_018217	-		33711758	-1	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33711758	G	A	33711758	3	1	102	1	0	0	0	0	1	0	0	0	4914	1116	39	1	699	1	EDEM2	20	33711758	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1366737	33711758	29313762	726	6636											
TGM2	7052	genome.wustl.edu	37	chr20	36770476	36770476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacctcaccagatcatctCgctcttgtcaccctggatct	5	18	6	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:36770476C>T	ENST00000361475.2	-	7	1158	c.985G>A	c.(985-987)Gag>Aag	p.E329K	TGM2_ENST00000536724.1_Missense_Mutation_p.E269K|TGM2_ENST00000536701.1_Missense_Mutation_p.E248K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	329					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAGATCATCTCGCTCTTGTCA	0.582																																																	0								ENSG00000198959						204	163	177					20																	36770476		2203	4300	6503	TGM2	SO:0001583	missense	0			-	HGNC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.985G>A	20.37:g.36770476C>T	ENSP00000355330:p.Glu329Lys	Somatic	0	30	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	18	47.06	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E329K	ENST00000361475.2	37	c.985	CCDS13302.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.514326	0.96402	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	D;D;D	0.95588	-3.75;-3.75;-3.75	5.02	5.02	0.67125	Transglutaminase-like (2);	0.308059	0.39407	N	0.001374	D	0.95211	0.8447	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.993;0.979;0.996;0.994;0.979	P;P;P;P;P	0.56700	0.704;0.758;0.781;0.804;0.758	D	0.96048	0.9029	10	0.87932	D	0	0.9521	17.3304	0.87261	0.0:1.0:0.0:0.0	.	269;248;329;269;329	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	K	329;248;269	ENSP00000355330:E329K;ENSP00000444701:E248K;ENSP00000437479:E269K	ENSP00000355330:E329K	E	-	1	0	TGM2	36203890	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.264000	0.65513	2.329000	0.79093	0.462000	0.41574	GAG	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	protein_coding	OTTHUMT00000079151.2	C	NM_198951	-		36770476	-1	no_errors	ENST00000361475	ensembl	human	known	74_37	missense	SNP	0.999	T	T	36770476	C	T	36770476	3	4	102	1	0	0	0	0	1	0	0	0	15837	893	31	1	1138	1	TGM2	20	36770476	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3058718	36770476	26255044	727	6637											
ZNF334	55713	genome.wustl.edu	37	chr20	45131081	45131081	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttgtcaatgaaggttttCctgcattcactgcattcata	7	8	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:45131081C>T	ENST00000347606.4	-	5	1079	c.897G>A	c.(895-897)agG>agA	p.R299R	ZNF334_ENST00000457685.2_Silent_p.R261R|ZNF334_ENST00000593880.1_Silent_p.R322R	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	299					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(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGAAGGTTTTCCTGCATTCAC	0.408																																																	0								ENSG00000198185						102	103	103					20																	45131081		2203	4300	6503	ZNF334	SO:0001819	synonymous_variant	0			-	HGNC	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.897G>A	20.37:g.45131081C>T		Somatic	0	88	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	69	11.54	Q5T6U2|Q9NVW4	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R299	ENST00000347606.4	37	c.897	CCDS33480.1	20																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	protein_coding	OTTHUMT00000079575.1	C		-		45131081	-1	no_errors	ENST00000347606	ensembl	human	known	74_37	silent	SNP	0.998	T	T	45131081	C	T	45131081	2	4	102	1	0	0	0	0	0	0	0	1	17858	854	30	2		2	ZNF334	20	45131081	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8360605	45131081	17894439	728	6638											
SNAI1	6615	genome.wustl.edu	37	chr20	48600506	48600506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaattgcctgggcctcCcttcggctccaggagagtcc	11	16	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:48600506C>T	ENST00000244050.2	+	2	289	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	76					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|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 (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|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 regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCTGGGCCTCCCTTCGGCTCC	0.667																																																	0								ENSG00000124216						42	48	46					20																	48600506		2203	4300	6503	SNAI1	SO:0001819	synonymous_variant	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.228C>T	20.37:g.48600506C>T		Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	25	51.92	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S76	ENST00000244050.2	37	c.228	CCDS13423.1	20																																																																																			-	NULL		0.667	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	C		-		48600506	1	no_errors	ENST00000244050	ensembl	human	known	74_37	silent	SNP	0.049	T	T	48600506	C	T	48600506	2	4	102	1	0	0	0	0	0	0	0	1	14834	610	22	2		2	SNAI1	20	48600506	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3469425	48600506	14425014	729	6639											
SNAI1	6615	genome.wustl.edu	37	chr20	48600634	48600634	+	Missense_Mutation	SNP	C	C	T													cttctcctctacttcagtctCttccttggaggccgaggcct							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:48600634C>T	ENST00000244050.2	+	2	417	c.356C>T	c.(355-357)tCt>tTt	p.S119F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	119	Ser-rich.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|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 (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|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 regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACTTCAGTCTCTTCCTTGGAG	0.627																																																	0								ENSG00000124216						53	63	59					20																	48600634		2203	4300	6503	SNAI1	SO:0001583	missense	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.356C>T	20.37:g.48600634C>T	ENSP00000244050:p.Ser119Phe	Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S119F	ENST00000244050.2	37	c.356	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325729	0.60743	.	.	ENSG00000124216	ENST00000244050	T	0.24350	1.86	4.62	2.54	0.30619	.	0.051646	0.85682	D	0.000000	T	0.16300	0.0392	N	0.24115	0.695	0.39101	D	0.961287	P	0.45902	0.868	P	0.46026	0.501	T	0.02132	-1.1208	10	0.37606	T	0.19	-21.0836	3.4161	0.07376	0.1367:0.4238:0.3395:0.1001	.	119	O95863	SNAI1_HUMAN	F	119	ENSP00000244050:S119F	ENSP00000244050:S119F	S	+	2	0	SNAI1	48034041	0.014000	0.17966	0.809000	0.32408	0.959000	0.62525	0.963000	0.29293	2.281000	0.76405	0.557000	0.71058	TCT	-	NULL		0.627	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	C		-		48600634	1	no_errors	ENST00000244050	ensembl	human	known	74_37	missense	SNP	0.898	T	T	48600634	C	T	48600634	3	4	102	1	0	0	0	0	1	0	0	0	14834	913	32	2	362	2	SNAI1	20	48600634	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	128	48600634	14424886	730	6640	99	2									
SNAI1	6615	genome.wustl.edu	37	chr20	48600635	48600635	+	Silent	SNP	T	T	C													ttctcctctacttcagtctcTtccttggaggccgaggccta							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:48600635T>C	ENST00000244050.2	+	2	418	c.357T>C	c.(355-357)tcT>tcC	p.S119S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	119	Ser-rich.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|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 (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|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 regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTTCAGTCTCTTCCTTGGAGG	0.627																																																	0								ENSG00000124216						53	62	59					20																	48600635		2203	4300	6503	SNAI1	SO:0001819	synonymous_variant	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.357T>C	20.37:g.48600635T>C		Somatic	0	48	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	22	43.59	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S119	ENST00000244050.2	37	c.357	CCDS13423.1	20																																																																																			-	NULL		0.627	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	T		-		48600635	1	no_errors	ENST00000244050	ensembl	human	known	74_37	silent	SNP	0.877	C	C	48600635	T	C	48600635	2	2	102	1	0	0	0	0	0	0	0	1	14834	1596	56	5		5	SNAI1	20	48600635	Silent	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	1	48600635	14424885	731	6641	99	2									
SYCP2	10388	genome.wustl.edu	37	chr20	58475799	58475799	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtaagtctgagacatacCtgtgatccacttgcgtcaaa	8	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:58475799C>T	ENST00000357552.3	-	17	1482	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	SYCP2_ENST00000371001.2_Splice_Site_p.Q419Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	419					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGAGACATACCTGTGATCCAC	0.343																																																	0								ENSG00000196074						112	99	103					20																	58475799		2203	4300	6503	SYCP2	SO:0001630	splice_region_variant	0			-	HGNC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1257+1G>A	20.37:g.58475799C>T		Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP							NULL	p.Q419	ENST00000357552.3	37	c.1257	CCDS13482.1	20																																																																																			-	NULL		0.343	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	C	NM_014258	-	Silent	58475799	-1	no_errors	ENST00000357552	ensembl	human	known	74_37	silent	SNP	1.000	T	T	58475799	C	T	58475799	5	4	102	1	0	0	0	0	0	0	1	0	15439	695	24	2	3451	2	SYCP2	20	58475799	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	9875164	58475799	4549721	732	6642											
C20orf151	140893	genome.wustl.edu	37	chr20	60990633	60990633	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccggtccctgcccttaCcatgtctggggctcgcgact	11	17	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:60990633C>T	ENST00000252998.1	-	8	784		c.e8+1			NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like							extracellular space (GO:0005615)											CCTGCCCTTACCATGTCTGGG	0.647																																																	0								ENSG00000130701						49	57	54					20																	60990633		2203	4298	6501	RBBP8NL	SO:0001630	splice_region_variant	0			-	HGNC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.627+1G>A	20.37:g.60990633C>T		Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Splice_Site	SNP							-	e7+1	ENST00000252998.1	37	c.627+1	CCDS13498.1	20	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606292	0.28623	.	.	ENSG00000130701	ENST00000252998	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9171	0.63905	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf151	60424028	0.940000	0.31905	0.984000	0.44739	0.076000	0.17211	1.942000	0.40243	2.078000	0.62432	0.462000	0.41574	.	-	-		0.647	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	protein_coding	OTTHUMT00000080029.1	C	NM_080833	-	Intron	60990633	-1	no_errors	ENST00000252998	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	60990633	C	T	60990633	5	4	102	1	0	0	0	0	0	0	1	0	2093	521	18	2	1394	2	C20orf151	20	60990633	Splice_Site	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2514834	60990633	2034887	733	6643											
NRIP1	8204	genome.wustl.edu	37	chr21	16337333	16337333	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattgggttggttttggtcaAtcttggagagtctttttcat	11	4	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:16337333A>T	ENST00000400202.1	-	3	3893	c.3181T>A	c.(3181-3183)Ttg>Atg	p.L1061M	NRIP1_ENST00000400199.1_Missense_Mutation_p.L1061M|NRIP1_ENST00000318948.4_Missense_Mutation_p.L1061M|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1061	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTTTTGGTCAATCTTGGAGAG	0.433																																																	0								ENSG00000180530						168	162	164					21																	16337333		2203	4300	6503	NRIP1	SO:0001583	missense	0			-	HGNC	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3181T>A	21.37:g.16337333A>T	ENSP00000383063:p.Leu1061Met	Somatic	0	95	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	Q8IWE8	Missense_Mutation	SNP							NULL	p.L1061M	ENST00000400202.1	37	c.3181	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733010	0.48939	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.19938	2.11;2.11;2.11	5.81	4.93	0.64822	.	0.000000	0.56097	D	0.000022	T	0.39682	0.1087	L	0.58101	1.795	0.42246	D	0.991953	D	0.89917	1.0	D	0.83275	0.996	T	0.23226	-1.0194	10	0.59425	D	0.04	-24.811	9.4842	0.38919	0.2119:0.0:0.7881:0.0	.	1061	P48552	NRIP1_HUMAN	M	1061	ENSP00000383060:L1061M;ENSP00000383063:L1061M;ENSP00000327213:L1061M	ENSP00000327213:L1061M	L	-	1	2	NRIP1	15259204	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.982000	0.49337	1.606000	0.50161	-0.132000	0.14878	TTG	-	NULL		0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	protein_coding	OTTHUMT00000157926.1	A	NM_003489	-		16337333	-1	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16337333	A	T	16337333	3	4	102	1	0	0	0	0	1	0	0	0	10654	98	4	5	299	5	NRIP1	21	16337333	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09		16337333	31792562	734	6644											
C21orf7	56911	genome.wustl.edu	37	chr21	30521520	30521520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttttagatgatacaccCcctgaagactccattccttt	5	12	0	4			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:30521520C>T	ENST00000399947.2	+	7	658	c.381C>T	c.(379-381)ccC>ccT	p.P127P	MAP3K7CL_ENST00000399934.1_Silent_p.P27P|MAP3K7CL_ENST00000545939.1_Silent_p.P21P|MAP3K7CL_ENST00000399935.2_Silent_p.P27P|MAP3K7CL_ENST00000341618.4_Silent_p.P127P|MAP3K7CL_ENST00000399928.1_Silent_p.P27P|MAP3K7CL_ENST00000399926.1_Silent_p.P27P|MAP3K7CL_ENST00000339024.4_Silent_p.P27P|MAP3K7CL_ENST00000399925.1_Silent_p.P27P|MAP3K7CL_ENST00000286791.5_3'UTR	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	127						cytosol (GO:0005829)|nucleus (GO:0005634)											ATGATACACCCCCTGAAGACT	0.408																																																	0								ENSG00000156265						168	158	161					21																	30521520		2203	4300	6503	MAP3K7CL	SO:0001819	synonymous_variant	0			-	HGNC	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.381C>T	21.37:g.30521520C>T		Somatic	0	39	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	D3DSE0|Q8TCL9	Silent	SNP							NULL	p.P127	ENST00000399947.2	37	c.381	CCDS13584.1	21																																																																																			-	NULL		0.408	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	MAP3K7CL	protein_coding	OTTHUMT00000171865.2	C	NM_020152	-		30521520	1	no_errors	ENST00000341618	ensembl	human	known	74_37	silent	SNP	0.456	T	T	30521520	C	T	30521520	2	4	102	1	0	0	0	0	0	0	0	1	2134	610	22	2		2	C21orf7	21	30521520	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	14184187	30521520	17608375	735	6645											
TTC3	7267	genome.wustl.edu	37	chr21	38495291	38495291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttttataggtcgaacaGcaaataaggatccaattaaa	7	6	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:38495291G>A	ENST00000399017.2	+	13	3819	c.1072G>A	c.(1072-1074)Gca>Aca	p.A358T	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.A48T|TTC3_ENST00000355666.1_Missense_Mutation_p.A358T|TTC3_ENST00000354749.2_Missense_Mutation_p.A358T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	358					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)				AGGTCGAACAGCAAATAAGGA	0.348																																					Ovarian(38;194 1649 35661)												0								ENSG00000182670						134	125	128					21																	38495291		2203	4300	6503	TTC3	SO:0001583	missense	0			-	HGNC	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.1072G>A	21.37:g.38495291G>A	ENSP00000381981:p.Ala358Thr	Somatic	0	123	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.A358T	ENST00000399017.2	37	c.1072	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260844	0.23051	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.42900	1.24;1.24;1.24;3.11;0.96;3.11;3.11	4.98	-3.8	0.04307	.	1.026170	0.07784	N	0.953859	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.0;0.085	B;B	0.19666	0.001;0.026	T	0.18935	-1.0321	10	0.19590	T	0.45	1.2368	0.6808	0.00875	0.2549:0.1996:0.135:0.4106	.	48;358	B4DSZ9;P53804	.;TTC3_HUMAN	T	358;358;340;358;48;358;358	ENSP00000403943:A358T;ENSP00000408456:A358T;ENSP00000391891:A340T;ENSP00000347889:A358T;ENSP00000442875:A48T;ENSP00000381981:A358T;ENSP00000346791:A358T	ENSP00000346791:A358T	A	+	1	0	TTC3	37417161	0.000000	0.05858	0.082000	0.20525	0.946000	0.59487	-1.621000	0.02044	-0.617000	0.05664	-0.171000	0.13296	GCA	-	NULL		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	protein_coding	OTTHUMT00000194776.1	G		-		38495291	1	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	SNP	0.014	A	A	38495291	G	A	38495291	3	1	102	1	0	0	0	0	1	0	0	0	16704	971	34	2	1118	2	TTC3	21	38495291	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7973771	38495291	9634604	736	6646											
CECR2	27443	genome.wustl.edu	37	chr22	17976556	17976556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctcttcgcacacgggtgGagatcctgcaccgactctgt	11	14	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:17976556G>A	ENST00000400573.5	+	3	284	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.E73K|CECR2_ENST00000262608.8_Missense_Mutation_p.E74K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	115					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)		CACACGGGTGGAGATCCTGCA	0.542																																																	0								ENSG00000099954						97	101	100					22																	17976556		2039	4189	6228	CECR2	SO:0001583	missense	0			-	HGNC	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	ENST00000400573.5:c.277G>A	22.37:g.17976556G>A	ENSP00000383417:p.Glu93Lys	Somatic	0	74	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E93K	ENST00000400573.5	37	c.277		22	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498627	0.64298	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.46819	0.86;0.86;0.86	5.34	3.12	0.35913	.	0.000000	0.36234	U	0.002709	T	0.35595	0.0937	L	0.52126	1.63	0.45528	D	0.998482	P	0.48294	0.908	B	0.34138	0.176	T	0.40553	-0.9557	10	0.66056	D	0.02	-6.427	10.7108	0.45982	0.0718:0.1319:0.7963:0.0	.	115	Q9BXF3	CECR2_HUMAN	K	73;93;74	ENSP00000341219:E73K;ENSP00000383417:E93K;ENSP00000262608:E74K	ENSP00000262608:E74K	E	+	1	0	CECR2	16356556	1.000000	0.71417	0.968000	0.41197	0.078000	0.17371	7.315000	0.78998	1.393000	0.46605	0.650000	0.86243	GAG	-	NULL		0.542	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	protein_coding	OTTHUMT00000316104.5	G	NM_031413	-		17976556	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	17976556	G	A	17976556	3	1	102	1	0	0	0	0	1	0	0	0	3208	1175	41	2	225	2	CECR2	22	17976556	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		17976556	33328010	737	6647											
PI4KA	5297	genome.wustl.edu	37	chr22	21084217	21084217	+	Silent	SNP	G	G	A													gtggacatgccgctggacagGgggtatgtgttgatccagcc					rs377578674		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21084217G>A	ENST00000572273.1	-	37	4427	c.4197C>T	c.(4195-4197)ccC>ccT	p.P1399P	PI4KA_ENST00000414196.3_Silent_p.P209P|PI4KA_ENST00000255882.6_Silent_p.P1457P			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1399					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)			CGCTGGACAGGGGGTATGTGT	0.547																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						113	81	91					22																	21084217		2203	4300	6503	PI4KA	SO:0001819	synonymous_variant	0			-	HGNC	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.4197C>T	22.37:g.21084217G>A		Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q7Z625|Q9UPG2	Silent	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P1457	ENST00000572273.1	37	c.4371		22																																																																																			-	NULL		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21084217	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	SNP	0.812	A	A	21084217	G	A	21084217	2	1	102	1	0	0	0	0	0	0	0	1	11875	1219	43	2		2	PI4KA	22	21084217	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3107661	21084217	30220349	738	6648	100	2									
PI4KA	5297	genome.wustl.edu	37	chr22	21084218	21084218	+	Missense_Mutation	SNP	G	G	A													tggacatgccgctggacaggGggtatgtgttgatccagcct							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21084218G>A	ENST00000572273.1	-	37	4426	c.4196C>T	c.(4195-4197)cCc>cTc	p.P1399L	PI4KA_ENST00000414196.3_Missense_Mutation_p.P209L|PI4KA_ENST00000255882.6_Missense_Mutation_p.P1457L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1399					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)			GCTGGACAGGGGGTATGTGTT	0.547																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						114	82	93					22																	21084218		2203	4300	6503	PI4KA	SO:0001583	missense	0			-	HGNC	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.4196C>T	22.37:g.21084218G>A	ENSP00000458238:p.Pro1399Leu	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q7Z625|Q9UPG2	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P1457L	ENST00000572273.1	37	c.4370		22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918273	0.92249	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77358	-1.09	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.71036	2.16	0.80722	D	1	P	0.48294	0.908	P	0.52957	0.714	D	0.85731	0.1331	10	0.59425	D	0.04	-28.0225	19.29	0.94095	0.0:0.0:1.0:0.0	.	1399	P42356	PI4KA_HUMAN	L	1399;209	ENSP00000402981:P209L	ENSP00000255882:P1399L	P	-	2	0	PI4KA	19414218	1.000000	0.71417	0.992000	0.48379	0.629000	0.37895	9.723000	0.98772	2.569000	0.86673	0.563000	0.77884	CCC	-	NULL		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21084218	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21084218	G	A	21084218	3	1	102	1	0	0	0	0	1	0	0	0	11875	1232	43	2	2014	2	PI4KA	22	21084218	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	21084218	30220348	739	6649	100	2									
SERPIND1	3053	genome.wustl.edu	37	chr22	21133933	21133933	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactctgatgtgagtgctggGaacatcctccagctttttca	10	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21133933G>A	ENST00000215727.5	+	2	616	c.333G>A	c.(331-333)ggG>ggA	p.G111G	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.G111G|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	111					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)|Sulodexide(DB06271)	TGAGTGCTGGGAACATCCTCC	0.507																																																	0								ENSG00000099937						75	66	69					22																	21133933		2203	4300	6503	SERPIND1	SO:0001819	synonymous_variant	0			-	HGNC	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.333G>A	22.37:g.21133933G>A		Somatic	0	23	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2RAI1|D3DX34|Q6IBZ5	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G111	ENST00000215727.5	37	c.333	CCDS13783.1	22																																																																																			-	superfamily_Serpin_dom		0.507	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	protein_coding	OTTHUMT00000319961.1	G	NM_000185	-		21133933	1	no_errors	ENST00000215727	ensembl	human	known	74_37	silent	SNP	0.000	A	A	21133933	G	A	21133933	2	1	102	1	0	0	0	0	0	0	0	1	14118	1161	41	2		2	SERPIND1	22	21133933	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	49715	21133933	30170633	740	6650											
CCDC116	164592	genome.wustl.edu	37	chr22	21990944	21990944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacgtgctcagggacctttCcctgggcttaaagaaggtaa	11	11	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21990944C>T	ENST00000292779.3	+	5	1588	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	476										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AGGGACCTTTCCCTGGGCTTA	0.587																																																	0								ENSG00000161180						85	74	77					22																	21990944		2203	4300	6503	CCDC116	SO:0001583	missense	0			-	HGNC	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1427C>T	22.37:g.21990944C>T	ENSP00000292779:p.Ser476Phe	Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	Q8N9Y9	Missense_Mutation	SNP							NULL	p.S476F	ENST00000292779.3	37	c.1427	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	C	3.630	-0.075710	0.07184	.	.	ENSG00000161180	ENST00000292779	T	0.10668	2.85	4.84	0.133	0.14766	.	1.939970	0.02601	N	0.101061	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26189	-1.0110	10	0.06494	T	0.89	-7.9855	0.9632	0.01399	0.1618:0.1524:0.1669:0.5189	.	476	Q8IYX3-2	.	F	476	ENSP00000292779:S476F	ENSP00000292779:S476F	S	+	2	0	CCDC116	20320944	0.004000	0.15560	0.059000	0.19551	0.403000	0.30841	0.233000	0.17911	-0.209000	0.10156	-0.237000	0.12165	TCC	-	NULL		0.587	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	protein_coding	OTTHUMT00000320199.1	C	NM_152612	-		21990944	1	no_errors	ENST00000292779	ensembl	human	known	74_37	missense	SNP	0.142	T	T	21990944	C	T	21990944	3	4	102	1	0	0	0	0	1	0	0	0	2755	855	30	2	1441	2	CCDC116	22	21990944	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	857011	21990944	29313622	741	6651											
HPS4	89781	genome.wustl.edu	37	chr22	26849247	26849247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctgctttgctttgccGgagaggctgaaggcgccatc	13	11	1	2	rs138189133	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:26849247G>A	ENST00000398145.2	-	14	2695	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	HPS4_ENST00000402105.3_Silent_p.S688S|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000398141.1_Silent_p.S706S|HPS4_ENST00000336873.5_Silent_p.S693S	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	693					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCTTTGCCGGAGAGGCTGA	0.582									Hermansky-Pudlak syndrome				G|||	30	0.00599042	0	0	5008	,	,		16855	0		0	False		,,,				2504	0.0307																0								ENSG00000100099	G	,	0,4406		0,0,2203	134	134	134		2079,2064	-9.2	0	22	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HPS4	NM_022081.4,NM_152841.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	693/709,688/704	26849247	1,13005	2203	4300	6503	HPS4	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	-	HGNC		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.2079C>T	22.37:g.26849247G>A		Somatic	0	82	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP							NULL	p.S706	ENST00000398145.2	37	c.2118	CCDS13835.1	22																																																																																			-	NULL		0.582	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	protein_coding	OTTHUMT00000320778.1	G	NM_022081	rs138189133		26849247	-1	no_errors	ENST00000398141	ensembl	human	known	74_37	silent	SNP	0.000	A	A	26849247	G	A	26849247	2	1	102	1	0	0	0	0	0	0	0	1	7343	1103	39	1		1	HPS4	22	26849247	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4858303	26849247	24455319	742	6652											
ZNRF3	84133	genome.wustl.edu	37	chr22	29446776	29446776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccacggccccacaggggCctgggagcaacccgggaaga	14	16	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:29446776C>T	ENST00000544604.2	+	8	2782	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	ZNRF3_ENST00000406323.3_Silent_p.G769G|ZNRF3_ENST00000402174.1_Silent_p.G769G|ZNRF3_ENST00000332811.4_Silent_p.G769G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	869					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCCACAGGGGCCTGGGAGCAA	0.721																																																	0								ENSG00000183579						9	11	11					22																	29446776		1874	4086	5960	ZNRF3	SO:0001819	synonymous_variant	0			-	HGNC	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2607C>T	22.37:g.29446776C>T		Somatic	0	99	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G869	ENST00000544604.2	37	c.2607	CCDS56225.1	22																																																																																			-	NULL		0.721	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	protein_coding	OTTHUMT00000320943.2	C	XM_290972	-		29446776	1	no_errors	ENST00000544604	ensembl	human	known	74_37	silent	SNP	0.005	T	T	29446776	C	T	29446776	2	4	102	1	0	0	0	0	0	0	0	1	18220	726	26	2		2	ZNRF3	22	29446776	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2597529	29446776	21857790	743	6653											
NF2	4771	genome.wustl.edu	37	chr22	30032850	30032850	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggacacagtggcctggctCaaaatggacaagaaggttgg	14	7	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:30032850C>T	ENST00000338641.4	+	2	666	c.225C>T	c.(223-225)ctC>ctT	p.L75L	NF2_ENST00000361676.4_Intron|NF2_ENST00000397789.3_Silent_p.L75L|NF2_ENST00000403435.1_Silent_p.L75L|NF2_ENST00000361452.4_Silent_p.L75L|NF2_ENST00000353887.4_Intron|NF2_ENST00000361166.4_Silent_p.L75L|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Intron|NF2_ENST00000413209.2_Silent_p.L75L|NF2_ENST00000403999.3_Silent_p.L75L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	75	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.M39_K80del(3)|p.?(3)|p.M77fs*9(2)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGGCCTGGCTCAAAATGGACA	0.537			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Unknown(3)|Deletion - In frame(3)|Insertion - Frameshift(2)	soft_tissue(3)|meninges(2)|stomach(1)|large_intestine(1)|lung(1)						ENSG00000186575						109	103	105					22																	30032850		2203	4300	6503	NF2	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	-	HGNC	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.225C>T	22.37:g.30032850C>T		Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP							pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin	p.L75	ENST00000338641.4	37	c.225	CCDS13861.1	22																																																																																			-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.537	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	protein_coding	OTTHUMT00000075615.3	C	NM_000268	-		30032850	1	no_errors	ENST00000338641	ensembl	human	known	74_37	silent	SNP	1.000	T	T	30032850	C	T	30032850	2	4	102	1	0	0	0	0	0	0	0	1	10359	813	29	2		2	NF2	22	30032850	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	586074	30032850	21271716	744	6654											
GATSL3	652968	genome.wustl.edu	37	chr22	30682027	30682027	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcccaggggctgtccaccGatgcgcaccatcctccacag	10	17	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:30682027G>A	ENST00000407689.3	-	7	933	c.804C>T	c.(802-804)atC>atT	p.I268I	GATSL3_ENST00000404953.3_Silent_p.I230I|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	268										breast(1)|endometrium(1)|lung(1)	3						GCTGTCCACCGATGCGCACCA	0.672																																																	0								ENSG00000239282						34	42	39					22																	30682027		2027	4174	6201	GATSL3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.804C>T	22.37:g.30682027G>A		Somatic	0	73	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	O76052|Q96ND9|Q9UIE8	Silent	SNP							NULL	p.I268	ENST00000407689.3	37	c.804	CCDS43001.1	22																																																																																			-	NULL		0.672	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	protein_coding	OTTHUMT00000320581.2	G	NM_001037666	-		30682027	-1	no_errors	ENST00000407689	ensembl	human	known	74_37	silent	SNP	0.975	A	A	30682027	G	A	30682027	2	1	102	1	0	0	0	0	0	0	0	1	6267	1048	37	1		1	GATSL3	22	30682027	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	649177	30682027	20622539	745	6655											
SMTN	6525	genome.wustl.edu	37	chr22	31483984	31483984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatctggcagagcggcggCgcatccgctcagccatccgg	14	15	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:31483984C>T	ENST00000347557.2	+	3	303	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	SMTN_ENST00000333137.7_Missense_Mutation_p.R29C|SMTN_ENST00000358743.1_Missense_Mutation_p.R29C|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	29					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGAGCGGCGGCGCATCCGCTC	0.677																																																	0								ENSG00000183963						22	23	22					22																	31483984		2192	4281	6473	SMTN	SO:0001583	missense	0			-	HGNC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.85C>T	22.37:g.31483984C>T	ENSP00000328635:p.Arg29Cys	Somatic	0	55	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP							pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R29C	ENST00000347557.2	37	c.85	CCDS13886.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.078117|4.078117	0.76528|0.76528	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	.|T;T;T;T;T;T;T;T	.|0.53640	.|0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	4.8|4.8	2.52|2.52	0.30459|0.30459	.|.	.|0.000000	.|0.35970	.|N	.|0.002864	T|T	0.47192|0.47192	0.1432|0.1432	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.998;0.998;0.998	.|P;P;P;P;P;P	.|0.60886	.|0.88;0.88;0.88;0.88;0.88;0.809	T|T	0.49899|0.49899	-0.8890|-0.8890	5|10	.|0.87932	.|D	.|0	-7.7084|-7.7084	9.8501|9.8501	0.41051|0.41051	0.2744:0.5925:0.1331:0.0|0.2744:0.5925:0.1331:0.0	.|.	.|85;83;21;29;29;29	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	83|83;29;83;83;29;29;29;29;21;21	.|ENSP00000398663:R83C;ENSP00000390453:R29C;ENSP00000399432:R83C;ENSP00000401341:R83C;ENSP00000351593:R29C;ENSP00000328635:R29C;ENSP00000329532:R29C;ENSP00000394637:R21C	.|ENSP00000329393:R29C	A|R	+|+	2|1	0|0	SMTN|SMTN	29813984|29813984	0.835000|0.835000	0.29415|0.29415	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.342000|1.342000	0.33919|0.33919	1.141000|1.141000	0.42275|0.42275	0.650000|0.650000	0.86243|0.86243	GCG|CGC	-	pfam_Smoothelin		0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	protein_coding	OTTHUMT00000321766.1	C	NM_134270	-		31483984	1	no_errors	ENST00000347557	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31483984	C	T	31483984	3	4	102	1	0	0	0	0	1	0	0	0	14822	768	27	1	91	1	SMTN	22	31483984	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	801957	31483984	19820582	746	6656											
MCM5	4174	genome.wustl.edu	37	chr22	35799446	35799446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagctgatgaggtgaccCggccccggccttctggggag	17	11	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:35799446C>T	ENST00000216122.4	+	4	488	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	MCM5_ENST00000382011.5_Intron	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	112					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)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGAGGTGACCCGGCCCCGGCC	0.617																																																	0								ENSG00000100297						81	84	83					22																	35799446		2203	4300	6503	MCM5	SO:0001583	missense	0			-	HGNC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.334C>T	22.37:g.35799446C>T	ENSP00000216122:p.Arg112Trp	Somatic	0	68	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP							pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase	p.R112W	ENST00000216122.4	37	c.334	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711155	0.68730	.	.	ENSG00000100297	ENST00000216122;ENST00000444582;ENST00000416905	T;T	0.12255	2.7;2.7	4.99	3.96	0.45880	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.71581	2.175	0.80722	D	1	D	0.62365	0.991	P	0.50192	0.634	T	0.03641	-1.1017	10	0.39692	T	0.17	-25.9429	14.6272	0.68629	0.147:0.853:0.0:0.0	.	112	P33992	MCM5_HUMAN	W	112;21;144	ENSP00000216122:R112W;ENSP00000393977:R144W	ENSP00000216122:R112W	R	+	1	2	MCM5	34129446	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	5.375000	0.66173	1.070000	0.40811	0.561000	0.74099	CGG	-	superfamily_NA-bd_OB-fold		0.617	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	protein_coding	OTTHUMT00000320661.3	C		-		35799446	1	no_errors	ENST00000216122	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35799446	C	T	35799446	3	4	102	1	0	0	0	0	1	0	0	0	9392	643	23	1	344	1	MCM5	22	35799446	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	4315462	35799446	15505120	747	6657											
TMPRSS6	164656	genome.wustl.edu	37	chr22	37499331	37499331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaacaggggcaccaggcGgaggtagccccgggcttttc	14	13	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:37499331G>A	ENST00000346753.3	-	2	270	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R43C|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R52C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R43C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R43C	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	52					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCACCAGGCGGAGGTAGCCC	0.657																																																	0								ENSG00000187045						63	69	67					22																	37499331		2203	4300	6503	TMPRSS6	SO:0001583	missense	0			-	HGNC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.154C>T	22.37:g.37499331G>A	ENSP00000334962:p.Arg52Cys	Somatic	0	98	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP							pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.R43C	ENST00000346753.3	37	c.127	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515109	0.27123	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.92397	-3.03;-3.02;-3.02;-3.03;-1.06;-2.68	4.39	2.3	0.28687	.	0.403681	0.26203	N	0.025731	D	0.85873	0.5798	L	0.41710	1.295	0.51012	D	0.999904	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.12156	0.007;0.001;0.001	T	0.80795	-0.1223	10	0.87932	D	0	.	5.8617	0.18752	0.2361:0.0:0.7639:0.0	.	52;43;52	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	C	43;52;43;43;52;43	ENSP00000371211:R43C;ENSP00000334962:R52C;ENSP00000385453:R43C;ENSP00000384964:R43C;ENSP00000397691:R52C;ENSP00000400317:R43C	ENSP00000334962:R52C	R	-	1	0	TMPRSS6	35829277	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.248000	0.32827	0.850000	0.35239	0.549000	0.68633	CGC	-	pirsf_Pept_S1A_matriptase-2		0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	protein_coding	OTTHUMT00000318822.1	G	NM_153609	-		37499331	-1	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	SNP	0.999	A	A	37499331	G	A	37499331	3	1	102	1	0	0	0	0	1	0	0	0	16258	1116	39	1	2349	1	TMPRSS6	22	37499331	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1699885	37499331	13805235	748	6658											
EIF3L	51386	genome.wustl.edu	37	chr22	38266316	38266316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattccctggtagacaaatCcaacatcaaccgacagttgg	7	12	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:38266316C>T	ENST00000412331.2	+	8	1295	c.713C>T	c.(712-714)tCc>tTc	p.S238F	EIF3L_ENST00000381683.6_Missense_Mutation_p.S190F|EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_Missense_Mutation_p.S140F	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTAGACAAATCCAACATCAAC	0.498																																																	0								ENSG00000100129						102	86	92					22																	38266316		2203	4300	6503	EIF3L	SO:0001583	missense	0			-	HGNC	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.713C>T	22.37:g.38266316C>T	ENSP00000416892:p.Ser238Phe	Somatic	0	60	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67		Missense_Mutation	SNP							pfam_eIF3l	p.S238F	ENST00000412331.2	37	c.713	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394056	0.83011	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.58060	0.36;0.36;0.36	5.03	5.03	0.67393	.	0.216313	0.52532	D	0.000073	T	0.80549	0.4644	M	0.93420	3.415	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;0.999;1.0;1.0	D	0.86081	0.1544	10	0.87932	D	0	-30.2824	18.7242	0.91708	0.0:1.0:0.0:0.0	.	190;140;238;281	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	F	238;281;190;205;140	ENSP00000416892:S238F;ENSP00000371099:S190F;ENSP00000384634:S140F	ENSP00000262832:S205F	S	+	2	0	EIF3L	36596262	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.064000	0.71169	2.487000	0.83934	0.462000	0.41574	TCC	-	pfam_eIF3l		0.498	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	protein_coding	OTTHUMT00000319551.2	C	NM_016091	-		38266316	1	no_errors	ENST00000412331	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38266316	C	T	38266316	3	4	102	1	0	0	0	0	1	0	0	0	5024	855	30	2	743	2	EIF3L	22	38266316	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	766985	38266316	13038250	749	6659											
MGAT3	4248	genome.wustl.edu	37	chr22	39884372	39884372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatggctggaccgagcccttCgccttccacatgcgcaagtc	11	15	0	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:39884372C>A	ENST00000341184.6	+	2	1235	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	340					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)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGCCCTTCGCCTTCCACA	0.627																																																	0								ENSG00000128268						75	78	77					22																	39884372		2203	4300	6503	MGAT3	SO:0001583	missense	0			-	HGNC	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1020C>A	22.37:g.39884372C>A	ENSP00000345270:p.Phe340Leu	Somatic	0	54	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP							pfam_Glyco_trans_17	p.F340L	ENST00000341184.6	37	c.1020	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	9.401	1.077923	0.20227	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	3.26	0.37387	.	0.058810	0.64402	D	0.000002	T	0.39733	0.1089	L	0.41824	1.3	0.39979	D	0.974894	P	0.35011	0.48	B	0.35899	0.213	T	0.20140	-1.0284	9	0.20046	T	0.44	.	9.1326	0.36854	0.0:0.6623:0.0:0.3377	.	340	Q09327	MGAT3_HUMAN	L	340	.	ENSP00000345270:F340L	F	+	3	2	MGAT3	38214318	0.372000	0.25064	1.000000	0.80357	0.998000	0.95712	-0.243000	0.08915	1.282000	0.44496	0.561000	0.74099	TTC	-	pfam_Glyco_trans_17		0.627	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	protein_coding	OTTHUMT00000075039.2	C	NM_002409	-		39884372	1	no_errors	ENST00000341184	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39884372	C	A	39884372	3	1	102	1	0	0	0	0	1	0	0	0	9546	883	31	3	1022	3	MGAT3	22	39884372	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1618056	39884372	11420194	750	6660											
PARVB	29780	genome.wustl.edu	37	chr22	44395417	44395417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcattcctacctgcagcagGaggctggagctgagacgtgg	14	10	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:44395417G>A	ENST00000406477.3	+	2	205	c.75G>A	c.(73-75)agG>agA	p.R25R		NM_001003828.2	NP_001003828.1	Q9HBI1	PARVB_HUMAN	parvin, beta	0					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				cctgcagcaggaggctggagc	0.498																																																	0								ENSG00000188677						71	74	73					22																	44395417		2009	4176	6185	PARVB	SO:0001819	synonymous_variant	0			-	HGNC	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000406477.3:c.75G>A	22.37:g.44395417G>A		Somatic	0	64	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R25	ENST00000406477.3	37	c.75	CCDS46724.1	22																																																																																			-	NULL		0.498	PARVB-001	KNOWN	basic|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319517.1	G	NM_001003828	-		44395417	1	no_errors	ENST00000406477	ensembl	human	known	74_37	silent	SNP	0.000	A	A	44395417	G	A	44395417	2	1	102	1	0	0	0	0	0	0	0	1	11471	1165	41	2		2	PARVB	22	44395417	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4511045	44395417	6909149	751	6661											
PARVG	64098	genome.wustl.edu	37	chr22	44586469	44586469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtctaccctgcacctcCttgtggccctggccaagcgc	10	16	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:44586469C>T	ENST00000444313.3	+	7	911	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F	PARVG_ENST00000415224.1_Missense_Mutation_p.L143F|PARVG_ENST00000422871.1_Missense_Mutation_p.L143F	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	143	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCTGCACCTCCTTGTGGCCCT	0.607																																																	0								ENSG00000138964						107	86	93					22																	44586469		2203	4300	6503	PARVG	SO:0001583	missense	0			-	HGNC	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.427C>T	22.37:g.44586469C>T	ENSP00000391583:p.Leu143Phe	Somatic	0	71	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.L143F	ENST00000444313.3	37	c.427	CCDS14057.1	22	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425180	0.43020	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.68903	-0.36;-0.36;-0.36	3.46	2.41	0.29592	Calponin homology domain (4);	0.000000	0.64402	D	0.000012	T	0.81123	0.4757	M	0.88450	2.955	0.48762	D	0.999701	D	0.89917	1.0	D	0.87578	0.998	T	0.80200	-0.1481	10	0.51188	T	0.08	-3.1816	8.3097	0.32064	0.4285:0.5715:0.0:0.0	.	143	Q9HBI0	PARVG_HUMAN	F	143	ENSP00000391453:L143F;ENSP00000391583:L143F;ENSP00000416761:L143F	ENSP00000349378:L143F	L	+	1	0	PARVG	42917802	0.995000	0.38212	0.983000	0.44433	0.603000	0.37013	2.289000	0.43523	0.759000	0.33084	-0.314000	0.08810	CTT	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain		0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVG	protein_coding	OTTHUMT00000318238.4	C	NM_022141	-		44586469	1	no_errors	ENST00000415224	ensembl	human	known	74_37	missense	SNP	0.990	T	T	44586469	C	T	44586469	3	4	102	1	0	0	0	0	1	0	0	0	11472	681	24	2	445	2	PARVG	22	44586469	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	191052	44586469	6718097	752	6662											
PHF21B	112885	genome.wustl.edu	37	chr22	45312480	45312480	+	Missense_Mutation	SNP	G	G	A													ccggcccggggcaacggggaGgctgtctggaatcagagtct							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:45312480G>A	ENST00000313237.5	-	4	394	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.L70F|PHF21B_ENST00000404079.2_Missense_Mutation_p.L70F|PHF21B_ENST00000396103.3_Missense_Mutation_p.L82F	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	82							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCAACGGGGAGGCTGTCTGGA	0.657																																																	0								ENSG00000056487						37	42	40					22																	45312480		2203	4300	6503	PHF21B	SO:0001583	missense	0			-	HGNC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.244C>T	22.37:g.45312480G>A	ENSP00000324403:p.Leu82Phe	Somatic	0	160	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	60	25.00	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L82F	ENST00000313237.5	37	c.244	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850332	0.91277	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.06	5.06	0.68205	.	0.089279	0.45361	D	0.000370	T	0.46502	0.1396	L	0.48642	1.525	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.40098	-0.9581	10	0.54805	T	0.06	-21.7849	18.4696	0.90767	0.0:0.0:1.0:0.0	.	70;82;70;82	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	F	82;82;70;70;70	ENSP00000324403:L82F;ENSP00000379410:L82F;ENSP00000385105:L70F;ENSP00000388619:L70F;ENSP00000401294:L70F	ENSP00000324403:L82F	L	-	1	0	PHF21B	43691144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.530000	0.90606	2.346000	0.79739	0.655000	0.94253	CTC	-	NULL		0.657	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	protein_coding	OTTHUMT00000321731.2	G	NM_138415	-		45312480	-1	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45312480	G	A	45312480	3	1	102	1	0	0	0	0	1	0	0	0	11836	1000	35	2	1391	2	PHF21B	22	45312480	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	726011	45312480	5992086	753	6663	101	2									
PHF21B	112885	genome.wustl.edu	37	chr22	45312481	45312481	+	Silent	SNP	G	G	A													cggcccggggcaacggggagGctgtctggaatcagagtctt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:45312481G>A	ENST00000313237.5	-	4	393	c.243C>T	c.(241-243)agC>agT	p.S81S	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Silent_p.S69S|PHF21B_ENST00000404079.2_Silent_p.S69S|PHF21B_ENST00000396103.3_Silent_p.S81S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	81							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CAACGGGGAGGCTGTCTGGAA	0.657																																																	0								ENSG00000056487						37	42	40					22																	45312481		2203	4300	6503	PHF21B	SO:0001819	synonymous_variant	0			-	HGNC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.243C>T	22.37:g.45312481G>A		Somatic	0	154	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	59	25.32	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S81	ENST00000313237.5	37	c.243	CCDS14061.1	22																																																																																			-	NULL		0.657	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	protein_coding	OTTHUMT00000321731.2	G	NM_138415	-		45312481	-1	no_errors	ENST00000313237	ensembl	human	known	74_37	silent	SNP	1.000	A	A	45312481	G	A	45312481	2	1	102	1	0	0	0	0	0	0	0	1	11836	1194	42	2		2	PHF21B	22	45312481	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	45312481	5992085	754	6664	101	2									
TTLL8	164714	genome.wustl.edu	37	chr22	50485695	50485695	+	Missense_Mutation	SNP	G	G	A													cctcttgatggtccagaggaGgtacggcatctcatttttta							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50485695G>A	ENST00000266182.6	-	4	294	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.L99F			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	135					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTCCAGAGGAGGTACGGCATC	0.488																																																	0								ENSG00000138892						160	163	162					22																	50485695		2065	4217	6282	TTLL8	SO:0001583	missense	0			-	HGNC			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.295C>T	22.37:g.50485695G>A	ENSP00000266182:p.Leu99Phe	Somatic	0	69	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B5MDV0	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.L99F	ENST00000266182.6	37	c.295		22	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.942126	0.02322	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.02916	4.11;4.11;4.11	5.07	-0.0193	0.13960	.	0.536654	0.18154	N	0.149997	T	0.01156	0.0038	N	0.03084	-0.415	0.26869	N	0.967783	B	0.14438	0.01	B	0.15052	0.012	T	0.48352	-0.9043	10	0.02654	T	1	.	8.6893	0.34256	0.6599:0.0:0.3401:0.0	.	99	B5MDV0	.	F	99;99;135	ENSP00000266182:L99F;ENSP00000387509:L99F;ENSP00000392252:L135F	ENSP00000266182:L99F	L	-	1	0	TTLL8	48827822	1.000000	0.71417	0.366000	0.25914	0.596000	0.36781	0.916000	0.28651	-0.048000	0.13401	-0.377000	0.06932	CTC	-	NULL		0.488	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	protein_coding		G	NM_001080447	-		50485695	-1	no_errors	ENST00000266182	ensembl	human	known	74_37	missense	SNP	0.982	A	A	50485695	G	A	50485695	3	1	102	1	0	0	0	0	1	0	0	0	16740	1000	35	2	2252	2	TTLL8	22	50485695	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	5173214	50485695	818871	755	6665	102	2									
TTLL8	164714	genome.wustl.edu	37	chr22	50485696	50485696	+	Silent	SNP	G	G	A													ctcttgatggtccagaggagGtacggcatctcattttttac							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50485696G>A	ENST00000266182.6	-	4	293	c.294C>T	c.(292-294)taC>taT	p.Y98Y	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.Y98Y			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	134					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCCAGAGGAGGTACGGCATCT	0.493																																																	0								ENSG00000138892						163	165	164					22																	50485696		2066	4215	6281	TTLL8	SO:0001819	synonymous_variant	0			-	HGNC			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.294C>T	22.37:g.50485696G>A		Somatic	0	70	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B5MDV0	Silent	SNP							pfam_TTL/TTLL_fam	p.Y98	ENST00000266182.6	37	c.294		22																																																																																			-	NULL		0.493	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	protein_coding		G	NM_001080447	-		50485696	-1	no_errors	ENST00000266182	ensembl	human	known	74_37	silent	SNP	0.987	A	A	50485696	G	A	50485696	2	1	102	1	0	0	0	0	0	0	0	1	16740	1256	44	2		2	TTLL8	22	50485696	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	1	50485696	818870	756	6666	102	2									
PLXNB2	23654	genome.wustl.edu	37	chr22	50719043	50719043	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaccgtcagcagggacgcGaagtagaccttggcgcgggc	16	13	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50719043G>A	ENST00000449103.1	-	25	4190	c.4050C>T	c.(4048-4050)ttC>ttT	p.F1350F	PLXNB2_ENST00000359337.4_Silent_p.F1350F|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1350					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACGCGAAGTAGACCT	0.642																																																	0								ENSG00000196576						60	67	65					22																	50719043		2155	4247	6402	PLXNB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4050C>T	22.37:g.50719043G>A		Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.F1350	ENST00000449103.1	37	c.4050	CCDS43035.1	22																																																																																			-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.642	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	G	NM_012401	-		50719043	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	SNP	0.146	A	A	50719043	G	A	50719043	2	1	102	1	0	0	0	0	0	0	0	1	12126	1049	37	1		1	PLXNB2	22	50719043	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	233347	50719043	585523	757	6667											
SBF1	6305	genome.wustl.edu	37	chr22	50900238	50900238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaaccttctggatgggcGgcagcctccggctctcccgc	12	17	2	0	rs528597678		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50900238G>A	ENST00000390679.3	-	21	2814	c.2630C>T	c.(2629-2631)cCg>cTg	p.P877L	SBF1_ENST00000380817.3_Missense_Mutation_p.P877L|SBF1_ENST00000348911.6_Missense_Mutation_p.P878L			O95248	MTMR5_HUMAN	SET binding factor 1	877					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGATGGGCGGCAGCCTCCG	0.657													G|||	1	0.000199681	0	0	5008	,	,		14352	0.001		0	False		,,,				2504	0																0								ENSG00000100241						31	37	35					22																	50900238		1932	4123	6055	SBF1	SO:0001583	missense	0			-	HGNC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2630C>T	22.37:g.50900238G>A	ENSP00000375097:p.Pro877Leu	Somatic	0	43	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP							pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.P877L	ENST00000390679.3	37	c.2630		22	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414297	0.62511	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.90069	-2.61;-2.61;-2.61	4.04	4.04	0.47022	.	0.282115	0.34700	N	0.003741	D	0.92919	0.7747	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.93719	0.7031	10	0.66056	D	0.02	.	15.9917	0.80211	0.0:0.0:1.0:0.0	.	877;878;877	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	877;878;888;887;877	ENSP00000370196:P877L;ENSP00000252027:P878L;ENSP00000375097:P877L	ENSP00000336522:P887L	P	-	2	0	SBF1	49247104	1.000000	0.71417	0.999000	0.59377	0.056000	0.15407	7.479000	0.81095	2.098000	0.63641	0.563000	0.77884	CCG	-	NULL		0.657	SBF1-201	KNOWN	basic	protein_coding	SBF1	protein_coding		G		-		50900238	-1	no_errors	ENST00000380817	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50900238	G	A	50900238	3	1	102	1	0	0	0	0	1	0	0	0	13866	1116	39	1	3135	1	SBF1	22	50900238	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	181195	50900238	404328	758	6668											
LMF2	91289	genome.wustl.edu	37	chr22	50941899	50941899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgttcggaggcagctccgGagtctttctgggaggctggc	16	11	2	0	rs142643928		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50941899G>A	ENST00000474879.2	-	14	2060	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	LMF2_ENST00000216080.5_Missense_Mutation_p.S657F|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.S569F	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	682						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCTCCGGAGTCTTTCTG	0.642																																																	0								ENSG00000100258						19	21	20					22																	50941899		2199	4291	6490	LMF2	SO:0001583	missense	0			-	HGNC	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2045C>T	22.37:g.50941899G>A	ENSP00000424381:p.Ser682Phe	Somatic	0	96	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP							pfam_LMF	p.S682F	ENST00000474879.2	37	c.2045	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241472	0.39598	.	.	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.33438	1.41;1.86;1.85	5.12	-5.07	0.02938	.	2.678450	0.01258	N	0.009081	T	0.31827	0.0809	L	0.60455	1.87	0.09310	N	1	P;P	0.44946	0.761;0.846	B;P	0.44946	0.275;0.465	T	0.49735	-0.8908	10	0.66056	D	0.02	1.118	4.5098	0.11906	0.0895:0.4765:0.1924:0.2415	.	682;657	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	F	569;682;657	ENSP00000370173:S569F;ENSP00000424381:S682F;ENSP00000216080:S657F	ENSP00000216080:S657F	S	-	2	0	LMF2	49288765	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.105000	0.10907	-0.293000	0.08986	-0.367000	0.07326	TCC	-	NULL		0.642	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	protein_coding	OTTHUMT00000316833.2	G	NM_033200	-		50941899	-1	no_errors	ENST00000474879	ensembl	human	known	74_37	missense	SNP	0.000	A	A	50941899	G	A	50941899	3	1	102	1	0	0	0	0	1	0	0	0	8848	1174	41	2	82	2	LMF2	22	50941899	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	41661	50941899	362667	759	6669											
PPP2R3B	28227	genome.wustl.edu	37	chrX	295211	295211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagcggggagcgcagcGcactcagcttctgctccaca	14	15	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:295211G>A	ENST00000390665.3	-	13	1637	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	540					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		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)				GGAGCGCAGCGCACTCAGCTT	0.697													G|||	2	0.000399361	0.0015	0	5008	,	,		12632	0		0	False		,,,				2504	0																0								ENSG00000167393	G	VAL/ALA	10,4364		0,10,2177	18	22	21		1619	0	0.1	X	dbSNP_134	21	1,8547		0,1,4273	no	missense	PPP2R3B	NM_013239.4	64	0,11,6450	AA,AG,GG		0.0117,0.2286,0.0851	benign	540/576	295211	11,12911	2187	4274	6461	PPP2R3B	SO:0001583	missense	0			-	HGNC	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1619C>T	X.37:g.295211G>A	ENSP00000375080:p.Ala540Val	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.A540V	ENST00000390665.3	37	c.1619	CCDS14104.1	X	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522793	0.13066	0.002286	1.17E-4	ENSG00000167393	ENST00000390665	T	0.23348	1.91	1.22	-0.00733	0.14009	.	411.325000	0.00721	N	0.000882	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.13361	-1.0512	10	0.27082	T	0.32	.	2.6892	0.05116	0.2309:0.3063:0.4628:0.0	.	540	Q9Y5P8	P2R3B_HUMAN	V	540	ENSP00000375080:A540V	ENSP00000375080:A540V	A	-	2	0	PPP2R3B	215211	0.001000	0.12720	0.111000	0.21465	0.667000	0.39255	0.625000	0.24477	-0.274000	0.09232	0.460000	0.39030	GCG	-	NULL		0.697	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	protein_coding	OTTHUMT00000055577.2	G	NM_013239	-		295211	-1	no_errors	ENST00000390665	ensembl	human	known	74_37	missense	SNP	0.011	A	A	295211	G	A	295211	3	1	102	1	0	0	0	0	1	0	0	0	12394	1087	38	1	112	1	PPP2R3B	23	295211	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09		295211	154975349	760	6670											
MXRA5	25878	genome.wustl.edu	37	chrX	3240025	3240025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtttggcctcttcccgTgttttctccgtggtgttccc	10	12	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:3240025T>C	ENST00000217939.6	-	5	3855	c.3701A>G	c.(3700-3702)cAc>cGc	p.H1234R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1234						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)				CCTCTTCCCGTGTTTTCTCCG	0.478																																																	0								ENSG00000101825						168	165	166					X																	3240025		2203	4300	6503	MXRA5	SO:0001583	missense	0			-	HGNC	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.3701A>G	X.37:g.3240025T>C	ENSP00000217939:p.His1234Arg	Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H1234R	ENST00000217939.6	37	c.3701	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	t	4.883	0.164075	0.09287	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62105	0.05	3.51	-2.59	0.06209	.	0.960325	0.08489	U	0.938286	T	0.39489	0.1080	L	0.29908	0.895	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.21586	-1.0241	10	0.30854	T	0.27	.	0.792	0.01059	0.3342:0.1032:0.1692:0.3934	.	1234	Q9NR99	MXRA5_HUMAN	R	1234	ENSP00000217939:H1234R	ENSP00000217939:H1234R	H	-	2	0	MXRA5	3250025	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.083000	0.11286	-0.174000	0.10743	-0.577000	0.04142	CAC	-	NULL		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	T	NM_015419	-		3240025	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	SNP	0.000	C	C	3240025	T	C	3240025	3	2	102	1	0	0	0	0	1	0	0	0	10005	1696	59	5	4797	5	MXRA5	23	3240025	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	2944814	3240025	152030535	761	6671											
VCX	26609	genome.wustl.edu	37	chrX	7811269	7811269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaagccgagagcctcgGgacctccggccaaggccacg	13	16	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:7811269G>A	ENST00000381059.3	+	2	244	c.25G>A	c.(25-27)Gga>Aga	p.G9R	VCX_ENST00000341408.4_Missense_Mutation_p.G9R	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	9					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GAGAGCCTCGGGACCTCCGGC	0.622																																																	0								ENSG00000182583						23	23	23					X																	7811269		2141	4103	6244	VCX	SO:0001583	missense	0			-	HGNC	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.25G>A	X.37:g.7811269G>A	ENSP00000370447:p.Gly9Arg	Somatic	0	161	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP							NULL	p.G9R	ENST00000381059.3	37	c.25	CCDS14128.1	X	.	.	.	.	.	.	.	.	.	.	-	7.972	0.749348	0.15710	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.40225	1.04;1.04	0.167	0.167	0.15006	.	.	.	.	.	T	0.50514	0.1620	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.37244	-0.9714	8	0.34782	T	0.22	.	.	.	.	.	9	Q9H320	VCX1_HUMAN	R	9	ENSP00000370447:G9R;ENSP00000344144:G9R	ENSP00000344144:G9R	G	+	1	0	VCX	7771269	0.002000	0.14202	0.018000	0.16275	0.019000	0.09904	-0.067000	0.11579	0.270000	0.21984	0.274000	0.19336	GGA	-	NULL		0.622	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX	protein_coding	OTTHUMT00000071474.1	G	NM_013452	-		7811269	1	no_errors	ENST00000381059	ensembl	human	known	74_37	missense	SNP	0.018	A	A	7811269	G	A	7811269	3	1	102	1	0	0	0	0	1	0	0	0	17149	1233	43	2	27	2	VCX	23	7811269	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4571244	7811269	147459291	762	6672											
FIGF	2277	genome.wustl.edu	37	chrX	15381437	15381437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttccaatgtggactgagatGatcgcttaaaaaaacaaaaa	8	6	0	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:15381437G>A	ENST00000297904.3	-	2	524	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	32					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GGACTGAGATGATCGCTTAAA	0.353																																																	0								ENSG00000165197						64	54	57					X																	15381437		2203	4300	6503	FIGF	SO:0001583	missense	0			-	HGNC	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.95C>T	X.37:g.15381437G>A	ENSP00000297904:p.Ser32Leu	Somatic	0	12	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	B2R7Z3	Missense_Mutation	SNP							pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.S32L	ENST00000297904.3	37	c.95	CCDS14166.1	X	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676353	0.29783	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.48	4.62	0.57501	.	0.934879	0.09095	N	0.849392	T	0.41050	0.1142	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29119	-1.0022	9	0.33940	T	0.23	-23.1056	12.3647	0.55222	0.083:0.0:0.917:0.0	.	32	O43915	VEGFD_HUMAN	L	32	.	ENSP00000297904:S32L	S	-	2	0	FIGF	15291358	0.979000	0.34478	0.001000	0.08648	0.013000	0.08279	3.846000	0.55888	1.081000	0.41110	0.538000	0.68166	TCA	-	NULL		0.353	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	protein_coding	OTTHUMT00000055859.1	G	NM_004469	-		15381437	-1	no_errors	ENST00000297904	ensembl	human	known	74_37	missense	SNP	0.021	A	A	15381437	G	A	15381437	3	1	102	1	0	0	0	0	1	0	0	0	5891	1294	45	2	993	2	FIGF	23	15381437	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7570168	15381437	139889123	763	6673											
NHS	4810	genome.wustl.edu	37	chrX	17739680	17739680	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagcaaagcactacctctCccgacgccagaggagaagat	11	12	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:17739680C>T	ENST00000380060.3	+	4	1310	c.972C>T	c.(970-972)ctC>ctT	p.L324L	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.L168L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	345					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACTACCTCTCCCGACGCCAG	0.458																																																	0								ENSG00000188158						230	183	199					X																	17739680		2203	4300	6503	NHS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.972C>T	X.37:g.17739680C>T		Somatic	0	44	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP							NULL	p.L324	ENST00000380060.3	37	c.972	CCDS14181.1	X																																																																																			-	NULL		0.458	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	protein_coding	OTTHUMT00000059120.1	C	NM_198270	-		17739680	1	no_errors	ENST00000380060	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17739680	C	T	17739680	2	4	102	1	0	0	0	0	0	0	0	1	10413	842	30	2		2	NHS	23	17739680	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	2358243	17739680	137530880	764	6674											
MAGEB18	286514	genome.wustl.edu	37	chrX	26157607	26157607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatttgaaggaagtggatCccatcaggcactactatgcc	10	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:26157607C>T	ENST00000325250.1	+	2	692	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	169	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGAAGTGGATCCCATCAGGCA	0.438																																																	0								ENSG00000176774						58	45	49					X																	26157607		2202	4300	6502	MAGEB18	SO:0001583	missense	0			-	HGNC	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.505C>T	X.37:g.26157607C>T	ENSP00000314543:p.Pro169Ser	Somatic	0	26	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25		Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P169S	ENST00000325250.1	37	c.505	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617042	0.28801	.	.	ENSG00000176774	ENST00000325250	T	0.04603	3.59	4.32	3.46	0.39613	.	0.258733	0.37809	N	0.001921	T	0.14270	0.0345	M	0.72894	2.215	0.34071	D	0.658458	D	0.76494	0.999	D	0.65573	0.936	T	0.14117	-1.0484	10	0.33940	T	0.23	.	7.2151	0.25955	0.0:0.8799:0.0:0.1201	.	169	Q96M61	MAGBI_HUMAN	S	169	ENSP00000314543:P169S	ENSP00000314543:P169S	P	+	1	0	MAGEB18	26067528	0.994000	0.37717	0.945000	0.38365	0.503000	0.33858	3.052000	0.49893	1.184000	0.42957	0.600000	0.82982	CCC	-	pfam_MAGE,pfscan_MAGE		0.438	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	protein_coding	OTTHUMT00000056120.1	C	NM_173699	-		26157607	1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	SNP	0.932	T	T	26157607	C	T	26157607	3	4	102	1	0	0	0	0	1	0	0	0	9177	855	30	2	507	2	MAGEB18	23	26157607	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	8417927	26157607	129112953	765	6675											
MAGEB2	4113	genome.wustl.edu	37	chrX	30236748	30236748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtgagaaacgccgcaaGgcccgagatgagacccgggg	16	13	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:30236748G>A	ENST00000378988.4	+	2	152	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	17										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AACGCCGCAAGGCCCGAGATG	0.542																																																	0								ENSG00000099399						39	38	38					X																	30236748		2202	4300	6502	MAGEB2	SO:0001819	synonymous_variant	0			-	HGNC	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.51G>A	X.37:g.30236748G>A		Somatic	0	77	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	O75860	Silent	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K17	ENST00000378988.4	37	c.51	CCDS14219.1	X																																																																																			-	pfam_Melanoma_ass_antigen_N		0.542	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	protein_coding	OTTHUMT00000056157.1	G	NM_002364	-		30236748	1	no_errors	ENST00000378988	ensembl	human	known	74_37	silent	SNP	0.000	A	A	30236748	G	A	30236748	2	1	102	1	0	0	0	0	0	0	0	1	9178	991	35	2		2	MAGEB2	23	30236748	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	4079141	30236748	125033812	766	6676											
FAM47A	158724	genome.wustl.edu	37	chrX	34148170	34148170	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatagcccttgcttagaatGaaatccttaaaggcaattgg	8	8	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:34148170G>A	ENST00000346193.3	-	1	2277	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	742										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						TGCTTAGAATGAAATCCTTAA	0.428																																																	0								ENSG00000185448						122	119	120					X																	34148170		2202	4300	6502	FAM47A	SO:0001819	synonymous_variant	0			-	HGNC	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.2226C>T	X.37:g.34148170G>A		Somatic	0	42	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	A8K8I9|Q8TAA0	Silent	SNP							NULL	p.F742	ENST00000346193.3	37	c.2226	CCDS43926.1	X																																																																																			-	NULL		0.428	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	G	NM_203408	-		34148170	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	SNP	0.410	A	A	34148170	G	A	34148170	2	1	102	1	0	0	0	0	0	0	0	1	5571	1281	45	2		2	FAM47A	23	34148170	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3911422	34148170	121122390	767	6677											
FAM47A	158724	genome.wustl.edu	37	chrX	34149601	34149601	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctctcagaatccagtttCagcagctgtcgtaggagact	9	11	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:34149601C>T	ENST00000346193.3	-	1	846	c.795G>A	c.(793-795)ctG>ctA	p.L265L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	265										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						AATCCAGTTTCAGCAGCTGTC	0.597																																																	0								ENSG00000185448						32	33	33					X																	34149601		2198	4298	6496	FAM47A	SO:0001819	synonymous_variant	0			-	HGNC	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.795G>A	X.37:g.34149601C>T		Somatic	0	130	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	42	48.15	A8K8I9|Q8TAA0	Silent	SNP							NULL	p.L265	ENST00000346193.3	37	c.795	CCDS43926.1	X																																																																																			-	NULL		0.597	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	C	NM_203408	-		34149601	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	SNP	0.277	T	T	34149601	C	T	34149601	2	4	102	1	0	0	0	0	0	0	0	1	5571	813	29	2		2	FAM47A	23	34149601	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1431	34149601	121120959	768	6678											
CXorf22	170063	genome.wustl.edu	37	chrX	35944249	35944249	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgaccggctacttatttCaatagaaaataaaacaacag	5	7	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:35944249C>T	ENST00000297866.5	+	2	431	c.365C>T	c.(364-366)tCa>tTa	p.S122L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	122										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTACTTATTTCAATAGAAAAT	0.348																																																	0								ENSG00000165164						44	43	44					X																	35944249		2202	4299	6501	CXorf22	SO:0001583	missense	0			-	HGNC	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.365C>T	X.37:g.35944249C>T	ENSP00000297866:p.Ser122Leu	Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	Q5JRM8|Q8N6X8	Missense_Mutation	SNP							superfamily_PapD-like	p.S122L	ENST00000297866.5	37	c.365	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.531826	0.00145	.	.	ENSG00000165164	ENST00000297866	T	0.14516	2.5	4.73	0.0857	0.14443	.	0.703744	0.13841	N	0.359010	T	0.08358	0.0208	L	0.46157	1.445	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.42447	-0.9451	10	0.07175	T	0.84	-18.0566	2.7098	0.05171	0.2153:0.3494:0.0:0.4353	.	122	Q6ZTR5	CX022_HUMAN	L	122	ENSP00000297866:S122L	ENSP00000297866:S122L	S	+	2	0	CXorf22	35854170	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.264000	0.08658	0.028000	0.15324	-0.297000	0.09499	TCA	-	NULL		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	protein_coding	OTTHUMT00000056216.2	C	NM_152632	-		35944249	1	no_errors	ENST00000297866	ensembl	human	known	74_37	missense	SNP	0.000	T	T	35944249	C	T	35944249	3	4	102	1	0	0	0	0	1	0	0	0	4104	838	29	2	371	2	CXorf22	23	35944249	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	1794648	35944249	119326311	769	6679											
MAOB	4129	genome.wustl.edu	37	chrX	43662639	43662639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatggccccctgaaggGgtatgatttgccctgtgaga	15	8	0	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:43662639G>A	ENST00000378069.4	-	4	439	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.P82S|MAOB_ENST00000538942.1_Missense_Mutation_p.P82S	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	98					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CCCCTGAAGGGGTATGATTTG	0.393																																																	0								ENSG00000069535						64	61	62					X																	43662639		2203	4300	6503	MAOB	SO:0001583	missense	0			-	HGNC		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.292C>T	X.37:g.43662639G>A	ENSP00000367309:p.Pro98Ser	Somatic	0	76	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	22	51.11	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP							pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.P98S	ENST00000378069.4	37	c.292	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	G	8.283	0.816060	0.16607	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.10860	2.83;2.83;2.83	5.45	1.27	0.21489	Amine oxidase (1);	0.232122	0.45867	D	0.000337	T	0.06325	0.0163	N	0.17872	0.535	0.45747	D	0.998641	B;B	0.16802	0.009;0.019	B;B	0.14578	0.007;0.011	T	0.30966	-0.9960	10	0.08179	T	0.78	-1.8551	13.4223	0.61005	0.0:0.4302:0.4609:0.1089	.	82;98	B7Z5H3;P27338	.;AOFB_HUMAN	S	98;82;82	ENSP00000367309:P98S;ENSP00000441613:P82S;ENSP00000442240:P82S	ENSP00000367309:P98S	P	-	1	0	MAOB	43547583	1.000000	0.71417	0.864000	0.33941	0.730000	0.41778	1.503000	0.35715	0.176000	0.19873	-0.558000	0.04189	CCC	-	pfam_Amino_oxidase,prints_Flavin_amine_oxidase		0.393	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	protein_coding	OTTHUMT00000056303.1	G	NM_000898	-		43662639	-1	no_errors	ENST00000378069	ensembl	human	known	74_37	missense	SNP	0.999	A	A	43662639	G	A	43662639	3	1	102	1	0	0	0	0	1	0	0	0	9228	1232	43	2	1318	2	MAOB	23	43662639	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7718390	43662639	111607921	770	6680											
CLCN5	1184	genome.wustl.edu	37	chrX	49853357	49853357	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggtttctctttgcagatCccttctggcctctttatccc	6	13	3	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:49853357C>T	ENST00000307367.2	+	9	1641	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	CLCN5_ENST00000376108.3_Silent_p.I450I|CLCN5_ENST00000376091.3_Silent_p.I520I|CLCN5_ENST00000376088.3_Silent_p.I520I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	450					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTTTGCAGATCCCTTCTGGCC	0.488																																																	0								ENSG00000171365						192	186	188					X																	49853357		2203	4300	6503	CLCN5	SO:0001819	synonymous_variant	0			-	HGNC	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1350C>T	X.37:g.49853357C>T		Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.I520	ENST00000307367.2	37	c.1560	CCDS14328.1	X																																																																																			-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.488	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	protein_coding	OTTHUMT00000056544.1	C		-		49853357	1	no_errors	ENST00000376088	ensembl	human	known	74_37	silent	SNP	0.989	T	T	49853357	C	T	49853357	2	4	102	1	0	0	0	0	0	0	0	1	3468	845	30	2		2	CLCN5	23	49853357	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	6190718	49853357	105417203	771	6681											
BMP15	9210	genome.wustl.edu	37	chrX	50659392	50659392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccccaaactactgtaaaGgaacttgtctccgagtacta	6	12	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:50659392G>A	ENST00000252677.3	+	2	964	c.964G>A	c.(964-966)Gga>Aga	p.G322R		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	322					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CTACTGTAAAGGAACTTGTCT	0.517																																																	0								ENSG00000130385						160	136	144					X																	50659392		2203	4299	6502	BMP15	SO:0001583	missense	0			-	HGNC	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.964G>A	X.37:g.50659392G>A	ENSP00000252677:p.Gly322Arg	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP							pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.G322R	ENST00000252677.3	37	c.964	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	g	15.10	2.732636	0.48939	.	.	ENSG00000130385	ENST00000252677	D	0.98937	-5.25	5.58	4.7	0.59300	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.049115	0.85682	N	0.000000	D	0.99480	0.9815	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	10	0.87932	D	0	.	13.0923	0.59172	0.0:0.1583:0.8417:0.0	.	322	O95972	BMP15_HUMAN	R	322	ENSP00000252677:G322R	ENSP00000252677:G322R	G	+	1	0	BMP15	50676132	1.000000	0.71417	0.398000	0.26321	0.089000	0.18198	7.812000	0.86109	1.104000	0.41587	0.594000	0.82650	GGA	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu		0.517	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	protein_coding	OTTHUMT00000056572.1	G	NM_005448	-		50659392	1	no_errors	ENST00000252677	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50659392	G	A	50659392	3	1	102	1	0	0	0	0	1	0	0	0	1458	1001	35	2	970	2	BMP15	23	50659392	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	806035	50659392	104611168	772	6682											
KDM5C	8242	genome.wustl.edu	37	chrX	53226161	53226178	+	In_Frame_Del	DEL	GGAGGGCAGTGAGGCCAG	GGAGGGCAGTGAGGCCAG	-													gactgcagtagccctggactGgagggcagtgaggccagggc							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	GGAGGGCAGTGAGGCCAG	GGAGGGCAGTGAGGCCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:53226161_53226178delGGAGGGCAGTGAGGCCAG	ENST00000375401.3	-	19	3203_3220	c.2671_2688delCTGGCCTCACTGCCCTCC	c.(2671-2688)ctggcctcactgccctccdel	p.LASLPS891del	KDM5C_ENST00000452825.3_In_Frame_Del_p.LASLPS824del|KDM5C_ENST00000375383.3_In_Frame_Del_p.LASLPS850del|KDM5C_ENST00000404049.3_In_Frame_Del_p.LASLPS890del|KDM5C_ENST00000375379.3_In_Frame_Del_p.LASLPS891del	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	891					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGA	0.656			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012																																			KDM5C	SO:0001651	inframe_deletion	0				HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2671_2688delCTGGCCTCACTGCCCTCC	X.37:g.53226161_53226178delGGAGGGCAGTGAGGCCAG	ENSP00000364550:p.Leu891_Ser896del	Somatic					0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	In_Frame_Del	DEL							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.LASLPS891in_frame_del	ENST00000375401.3	37	c.2688_2671	CCDS14351.1	X																																																																																			-	pfam_Lys_sp_deMease_like_dom		0.656	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	GGAGGGCAGTGAGGCCAG	NM_004187			53226178	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	in_frame_del	DEL	0.525:0.535:0.430:0.122:0.957:0.968:0.929:0.855:0.845:0.849:0.999:1.000:1.000:1.000:1.000:0.973:0.997:0.997	-	-	53226178	GGAGGGCAGTGAGGCCAG	-	53226161	7	5	102	1	0	1	0	1	0	0	0	0	8137	1335	47	0	2124	0	KDM5C	23	53226161	In_Frame_Del	DEL	GGAGGGCAGTGAGGCCAG	TCGA-DX-A8BP-01A-11D-A37C-09	2566769	53226161	102044399	773	6683											
KDM5C	8242	genome.wustl.edu	37	chrX	53228286	53228286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcttgcacttgatacactGgcgctcatcatctgggagca	10	11	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:53228286G>T	ENST00000375401.3	-	15	2648	c.2116C>A	c.(2116-2118)Cag>Aag	p.Q706K	KDM5C_ENST00000452825.3_Missense_Mutation_p.Q639K|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q665K|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q705K|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q706K|KDM5C_ENST00000465402.1_5'Flank	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	706					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGATACACTGGCGCTCATCA	0.517			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						169	135	146					X																	53228286		2203	4300	6503	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2116C>A	X.37:g.53228286G>T	ENSP00000364550:p.Gln706Lys	Somatic	0	27	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.Q706K	ENST00000375401.3	37	c.2116	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	23.8	4.456101	0.84209	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87571	-2.27;-1.98;-1.98;-1.98;-2.12	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	M	0.79123	2.44	0.51012	D	0.999906	P;P;P	0.52170	0.923;0.874;0.951	P;P;P	0.56865	0.741;0.651;0.808	D	0.92849	0.6295	10	0.87932	D	0	-8.4486	14.2463	0.65990	0.0:0.0:1.0:0.0	.	639;705;706	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	K	639;706;705;706;665	ENSP00000445176:Q639K;ENSP00000364550:Q706K;ENSP00000385394:Q705K;ENSP00000364528:Q706K;ENSP00000364532:Q665K	ENSP00000364528:Q706K	Q	-	1	0	KDM5C	53245011	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	9.735000	0.98825	1.935000	0.56089	0.519000	0.50382	CAG	-	NULL		0.517	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	G	NM_004187	-		53228286	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53228286	G	T	53228286	3	4	102	1	0	0	0	0	1	0	0	0	8137	1357	47	3	2712	3	KDM5C	23	53228286	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2125	53228286	102042274	774	6684											
DLG3	1741	genome.wustl.edu	37	chrX	69720323	69720324	+	Frame_Shift_Ins	INS	-	-	A													aatctctgctttttcagggcINSaagcactgcatcttagatgt							TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:69720323_69720324insA	ENST00000374360.3	+	17	2381_2382	c.2148_2149insA	c.(2149-2151)aagfs	p.K717fs	DLG3_ENST00000542398.1_Frame_Shift_Ins_p.K266fs|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000194900.4_Frame_Shift_Ins_p.K749fs|DLG3_ENST00000374355.3_Frame_Shift_Ins_p.K412fs	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	717	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TTTTTCAGGGCAAGCACTGCAT	0.485																																																	0								ENSG00000082458																																			DLG3	SO:0001589	frameshift_variant	0				HGNC	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2150dupA	X.37:g.69720325_69720325dupA	ENSP00000363480:p.Lys717fs	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Frame_Shift_Ins	INS							pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.H749fs	ENST00000374360.3	37	c.2244_2245	CCDS14403.1	X																																																																																			-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like		0.485	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	-	NM_021120			69720324	1	no_errors	ENST00000194900	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	69720324	-	A	69720323	7	5	102	1	0	1	1	0	0	0	0	0	4558	697	25	0	2502	0	DLG3	23	69720323	Frame_Shift_Ins	INS	-	TCGA-DX-A8BP-01A-11D-A37C-09	16492037	69720323	85550237	775	6685											
NLGN3	54413	genome.wustl.edu	37	chrX	70387097	70387097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattgatggtgatgtcattCctgatgaccctgagatcctc	10	9	1	6			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:70387097C>T	ENST00000358741.3	+	7	1453	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	NLGN3_ENST00000374051.3_Missense_Mutation_p.P364S|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.P344S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	384					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGATGTCATTCCTGATGACCC	0.552																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0								ENSG00000196338						124	88	100					X																	70387097		2203	4300	6503	NLGN3	SO:0001583	missense	0			-	HGNC	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1150C>T	X.37:g.70387097C>T	ENSP00000351591:p.Pro384Ser	Somatic	0	20	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	45.45	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P384S	ENST00000358741.3	37	c.1150	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101354	0.76983	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.992;0.989	D	0.87653	0.2529	10	0.51188	T	0.08	.	17.8251	0.88662	0.0:1.0:0.0:0.0	.	344;384;364	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	S	344;247;364;344;384	ENSP00000445298:P344S;ENSP00000363163:P364S;ENSP00000379196:P344S;ENSP00000351591:P384S	ENSP00000351591:P384S	P	+	1	0	NLGN3	70303822	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.651000	0.83577	2.398000	0.81561	0.431000	0.28591	CCT	-	pfam_CarbesteraseB		0.552	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	protein_coding	OTTHUMT00000057121.1	C	NM_018977	-		70387097	1	no_errors	ENST00000358741	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70387097	C	T	70387097	3	4	102	1	0	0	0	0	1	0	0	0	10465	855	30	2	1172	2	NLGN3	23	70387097	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	666774	70387097	84883463	776	6686											
TAF1	6872	genome.wustl.edu	37	chrX	70587930	70587930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaggagtacagaagatgctGtggactattcagacatcaat	10	6	2	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:70587930G>T	ENST00000373790.4	+	3	373	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	TAF1_ENST00000276072.3_Missense_Mutation_p.V108L|TAF1_ENST00000449580.1_Missense_Mutation_p.V108L|TAF1_ENST00000423759.1_Missense_Mutation_p.V108L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	108	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGAAGATGCTGTGGACTATTC	0.473																																																	0								ENSG00000147133						193	166	175					X																	70587930		2203	4300	6503	TAF1	SO:0001583	missense	0			-	HGNC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.322G>T	X.37:g.70587930G>T	ENSP00000362895:p.Val108Leu	Somatic	0	62	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.V108L	ENST00000373790.4	37	c.322	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	16.32	3.089865	0.55968	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.11495	2.77;2.85;2.86;2.81	5.2	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.64567	1.98	0.48288	D	0.999625	B;B	0.31318	0.014;0.319	B;B	0.34301	0.01;0.179	T	0.02417	-1.1162	10	0.46703	T	0.11	.	9.1425	0.36912	0.1671:0.0:0.8329:0.0	.	108;108	P21675;P21675-2	TAF1_HUMAN;.	L	108	ENSP00000362895:V108L;ENSP00000389000:V108L;ENSP00000406549:V108L;ENSP00000276072:V108L	ENSP00000276072:V108L	V	+	1	0	TAF1	70504655	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.481000	0.66826	2.293000	0.77203	0.589000	0.80489	GTG	-	pirsf_TAF1_animal		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	G	NM_004606	-		70587930	1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70587930	G	T	70587930	3	4	102	1	0	0	0	0	1	0	0	0	15520	1377	48	3	332	3	TAF1	23	70587930	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	200833	70587930	84682630	777	6687											
PIN4	5303	genome.wustl.edu	37	chrX	71417246	71417246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggttggatgaccagagggtCcatggtgggaccatttcaag	16	7	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:71417246C>T	ENST00000373669.2	+	4	373	c.341C>T	c.(340-342)tCc>tTc	p.S114F	PIN4_ENST00000423432.2_Intron|RN7SL388P_ENST00000498736.2_RNA|PIN4_ENST00000218432.5_3'UTR	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	89	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(2)	3	Renal(35;0.156)					ACCAGAGGGTCCATGGTGGGA	0.458																																																	0								ENSG00000102309						80	65	70					X																	71417246		2203	4300	6503	PIN4	SO:0001583	missense	0			-	HGNC	AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.341C>T	X.37:g.71417246C>T	ENSP00000362773:p.Ser114Phe	Somatic	0	46	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	5	79.17	A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Missense_Mutation	SNP							pfam_PPIase_PpiC,pfscan_PPIase_PpiC	p.S114F	ENST00000373669.2	37	c.341	CCDS14417.1	X	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757203	0.89843	.	.	ENSG00000102309	ENST00000373669	.	.	.	5.34	5.34	0.76211	.	0.051675	0.85682	D	0.000000	T	0.77671	0.4165	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	D	0.71184	0.972	T	0.80520	-0.1346	9	0.87932	D	0	-5.2334	15.3582	0.74443	0.0:1.0:0.0:0.0	.	114	Q9Y237-2	.	F	114	.	ENSP00000362773:S114F	S	+	2	0	PIN4	71333971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.250000	0.78287	2.218000	0.71995	0.600000	0.82982	TCC	-	pfam_PPIase_PpiC,pfscan_PPIase_PpiC		0.458	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN4	protein_coding	OTTHUMT00000057175.2	C	NM_006223	-		71417246	1	no_errors	ENST00000373669	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71417246	C	T	71417246	3	4	102	1	0	0	0	0	1	0	0	0	11933	855	30	2	355	2	PIN4	23	71417246	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	829316	71417246	83853314	778	6688											
RLIM	51132	genome.wustl.edu	37	chrX	73812544	73812544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgacctctggtaggtggGacctctgttaacgcttcagt	11	11	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:73812544G>A	ENST00000332687.6	-	4	824	c.606C>T	c.(604-606)gtC>gtT	p.V202V	RLIM_ENST00000349225.2_Silent_p.V202V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	202					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTAGGTGGGACCTCTGTTA	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0								ENSG00000131263						182	152	162					X																	73812544		2203	4300	6503	RLIM	SO:0001819	synonymous_variant	0			-	HGNC	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.606C>T	X.37:g.73812544G>A		Somatic	0	34	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	6	60.00	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V202	ENST00000332687.6	37	c.606	CCDS14427.1	X																																																																																			-	NULL		0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	protein_coding	OTTHUMT00000057268.1	G	NM_016120	-		73812544	-1	no_errors	ENST00000332687	ensembl	human	known	74_37	silent	SNP	0.000	A	A	73812544	G	A	73812544	2	1	102	1	0	0	0	0	0	0	0	1	13398	1161	41	2		2	RLIM	23	73812544	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	2395298	73812544	81458016	779	6689											
ATP7A	538	genome.wustl.edu	37	chrX	77289141	77289141	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggtacctgcatagatttCcaggttgtgccaggctgtgg	14	8	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:77289141C>T	ENST00000341514.6	+	17	3488	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	ATP7A_ENST00000350425.4_Silent_p.F114F|ATP7A_ENST00000343533.5_Silent_p.F1033F	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1111					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCATAGATTTCCAGGTTGTGC	0.383																																																	0								ENSG00000165240						107	98	101					X																	77289141		2203	4296	6499	ATP7A	SO:0001819	synonymous_variant	0			-	HGNC	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3333C>T	X.37:g.77289141C>T		Somatic	0	63	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	B1AT72|O00227|O00745|Q9BYY8	Silent	SNP							pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.F1111	ENST00000341514.6	37	c.3333	CCDS35339.1	X																																																																																			-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB		0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	protein_coding	OTTHUMT00000057306.1	C	NM_000052	-		77289141	1	no_errors	ENST00000341514	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77289141	C	T	77289141	2	4	102	1	0	0	0	0	0	0	0	1	1190	854	30	2		2	ATP7A	23	77289141	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3476597	77289141	77981419	780	6690											
SYTL4	94121	genome.wustl.edu	37	chrX	99956529	99956529	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgacacaccaggtgaTtacaaccccgacaagtattg	8	13	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:99956529T>A	ENST00000372989.1	-	5	582	c.251A>T	c.(250-252)aAt>aTt	p.N84I	SYTL4_ENST00000455616.1_Missense_Mutation_p.N84I|SYTL4_ENST00000263033.5_Missense_Mutation_p.N84I|SYTL4_ENST00000372981.1_Missense_Mutation_p.N84I|SYTL4_ENST00000276141.6_Missense_Mutation_p.N84I|SYTL4_ENST00000454200.2_Missense_Mutation_p.N84I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	84	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			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)"	CACCAGGTGATTACAACCCCG	0.567																																																	0								ENSG00000102362						108	91	97					X																	99956529		2203	4300	6503	SYTL4	SO:0001583	missense	0			-	HGNC		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.251A>T	X.37:g.99956529T>A	ENSP00000362080:p.Asn84Ile	Somatic	0	20	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin	p.N84I	ENST00000372989.1	37	c.251	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447126	0.84101	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.25	5.25	0.73442	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.088604	0.85682	D	0.000000	D	0.86108	0.5854	M	0.65975	2.015	0.47547	D	0.999453	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.959	D	0.86109	0.1561	9	.	.	.	-28.0025	14.1265	0.65225	0.0:0.0:0.0:1.0	.	84;84	Q96C24-2;Q96C24	.;SYTL4_HUMAN	I	84	ENSP00000362080:N84I;ENSP00000390252:N84I;ENSP00000403556:N84I;ENSP00000276141:N84I;ENSP00000263033:N84I;ENSP00000362072:N84I	.	N	-	2	0	SYTL4	99843185	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.459000	0.80802	1.863000	0.54032	0.486000	0.48141	AAT	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ		0.567	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	protein_coding	OTTHUMT00000057488.1	T	NM_080737	-		99956529	-1	no_errors	ENST00000454200	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99956529	T	A	99956529	3	1	102	1	0	0	0	0	1	0	0	0	15492	1493	52	5	1824	5	SYTL4	23	99956529	Missense_Mutation	SNP	T	TCGA-DX-A8BP-01A-11D-A37C-09	22667388	99956529	55314031	781	6691											
CXorf57	55086	genome.wustl.edu	37	chrX	105875881	105875881	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaatcttcgagatcccCcaacaaatataattatcatt	4	11	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:105875881C>G	ENST00000372548.4	+	4	1115	c.1006C>G	c.(1006-1008)Cca>Gca	p.P336A	CXorf57_ENST00000372544.2_Missense_Mutation_p.P336A	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	336							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCGAGATCCCCCAACAAATAT	0.299																																																	0								ENSG00000147231						38	38	38					X																	105875881		2202	4298	6500	CXorf57	SO:0001583	missense	0			-	HGNC	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1006C>G	X.37:g.105875881C>G	ENSP00000361628:p.Pro336Ala	Somatic	0	94	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP							superfamily_NA-bd_OB-fold	p.P336A	ENST00000372548.4	37	c.1006	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996772	0.35226	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.41400	1.0;1.0;1.0	4.08	3.19	0.36642	Nucleic acid-binding, OB-fold-like (1);	0.312602	0.34133	N	0.004229	T	0.42154	0.1190	N	0.25144	0.715	0.30800	N	0.739986	B;B;D	0.64830	0.22;0.22;0.994	B;B;D	0.64042	0.07;0.07;0.921	T	0.30297	-0.9983	10	0.26408	T	0.33	-3.3443	9.7524	0.40483	0.0:0.8885:0.0:0.1115	.	336;336;336	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	A	336;336;144	ENSP00000361623:P336A;ENSP00000361628:P336A;ENSP00000405866:P144A	ENSP00000361623:P336A	P	+	1	0	CXorf57	105762537	0.998000	0.40836	0.989000	0.46669	0.982000	0.71751	0.538000	0.23160	1.966000	0.57179	0.506000	0.49869	CCA	-	superfamily_NA-bd_OB-fold		0.299	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	protein_coding	OTTHUMT00000057800.2	C	NM_018015	-		105875881	1	no_errors	ENST00000372548	ensembl	human	known	74_37	missense	SNP	0.999	G	G	105875881	C	G	105875881	3	3	102	1	0	0	0	0	1	0	0	0	4115	623	22	4	1020	4	CXorf57	23	105875881	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	5919352	105875881	49394679	782	6692											
CLDN2	9075	genome.wustl.edu	37	chrX	106172048	106172048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctccaactactacgatgCctaccaagcccaacctcttg	5	17	1	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:106172048C>T	ENST00000541806.1	+	2	1109	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLDN2_ENST00000540876.1_Missense_Mutation_p.A197V|CLDN2_ENST00000336803.1_Missense_Mutation_p.A197V	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	197					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						TACTACGATGCCTACCAAGCC	0.498																																																	0								ENSG00000165376						127	118	121					X																	106172048		2203	4300	6503	CLDN2	SO:0001583	missense	0			-	HGNC	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.590C>T	X.37:g.106172048C>T	ENSP00000441283:p.Ala197Val	Somatic	0	35	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2R6B9	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.A197V	ENST00000541806.1	37	c.590	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	C	2.822	-0.244538	0.05906	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.85955	-2.05;-2.05;-2.05	4.7	2.69	0.31865	.	0.952940	0.08710	N	0.905112	T	0.71273	0.3320	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.16722	0.016	T	0.54139	-0.8338	10	0.21540	T	0.41	.	12.6254	0.56626	0.0:0.4709:0.5291:0.0	.	197	P57739	CLD2_HUMAN	V	197	ENSP00000441283:A197V;ENSP00000443230:A197V;ENSP00000336571:A197V	ENSP00000336571:A197V	A	+	2	0	CLDN2	106058704	0.000000	0.05858	0.976000	0.42696	0.391000	0.30476	-0.130000	0.10498	0.828000	0.34709	0.529000	0.55759	GCC	-	prints_Claudin2		0.498	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	protein_coding	OTTHUMT00000057815.1	C		-		106172048	1	no_errors	ENST00000336803	ensembl	human	known	74_37	missense	SNP	0.001	T	T	106172048	C	T	106172048	3	4	102	1	0	0	0	0	1	0	0	0	3483	739	26	2	592	2	CLDN2	23	106172048	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	296167	106172048	49098512	783	6693											
CHRDL1	91851	genome.wustl.edu	37	chrX	109922648	109922648	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaatatggaagtgctggaGaatgcctagggccaagcaaa	12	8	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:109922648G>A	ENST00000372045.1	-	11	1269	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	CHRDL1_ENST00000434224.1_Missense_Mutation_p.L307F|CHRDL1_ENST00000444321.2_Missense_Mutation_p.L387F|CHRDL1_ENST00000218054.4_Missense_Mutation_p.L386F|CHRDL1_ENST00000372042.1_Missense_Mutation_p.L388F|CHRDL1_ENST00000482160.1_Missense_Mutation_p.L308F|CHRDL1_ENST00000394797.4_Missense_Mutation_p.L386F			Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453																																																	0								ENSG00000101938						120	94	103					X																	109922648		2203	4300	6503	CHRDL1	SO:0001583	missense	0			-	HGNC	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1138C>T	X.37:g.109922648G>A	ENSP00000361115:p.Leu380Phe	Somatic	0	37	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP							pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.L388F	ENST00000372045.1	37	c.1162		X	.	.	.	.	.	.	.	.	.	.	G	6.872	0.530184	0.13127	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.35236	2.06;1.32;2.05;2.05;2.33;1.33;2.06	5.04	3.26	0.37387	.	0.000000	0.64402	D	0.000001	T	0.39462	0.1079	N	0.17082	0.46	0.49051	D	0.999744	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D	0.78314	0.99;0.991;0.991;0.991;0.991;0.986	T	0.08764	-1.0706	9	.	.	.	-5.765	11.1547	0.48480	0.1573:0.0:0.8427:0.0	.	308;387;367;380;388;307	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	F	380;307;386;386;388;308;387	ENSP00000361115:L380F;ENSP00000389627:L307F;ENSP00000218054:L386F;ENSP00000378276:L386F;ENSP00000361112:L388F;ENSP00000418443:L308F;ENSP00000399739:L387F	.	L	-	1	0	CHRDL1	109809304	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	3.747000	0.55134	0.590000	0.29694	-0.191000	0.12829	CTC	-	NULL		0.453	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	protein_coding	OTTHUMT00000057912.1	G	NM_145234	-		109922648	-1	no_errors	ENST00000372042	ensembl	human	known	74_37	missense	SNP	1.000	A	A	109922648	G	A	109922648	3	1	102	1	0	0	0	0	1	0	0	0	3375	942	33	2	222	2	CHRDL1	23	109922648	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	3750600	109922648	45347912	784	6694											
KLHL13	90293	genome.wustl.edu	37	chrX	117043924	117043924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcaagacgctcaaaagGgagtttcaagaactcccctg	11	10	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:117043924G>A	ENST00000262820.3	-	5	1615	c.706C>T	c.(706-708)Cct>Tct	p.P236S	KLHL13_ENST00000371876.1_Missense_Mutation_p.P185S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P185S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P185S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P220S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P239S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P185S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P220S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P194S	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	236	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CGCTCAAAAGGGAGTTTCAAG	0.453																																																	0								ENSG00000003096						106	100	102					X																	117043924		2203	4300	6503	KLHL13	SO:0001583	missense	0			-	HGNC	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.706C>T	X.37:g.117043924G>A	ENSP00000262820:p.Pro236Ser	Somatic	0	29	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P239S	ENST00000262820.3	37	c.715	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777009	0.31411	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	4.88	4.88	0.63580	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	N	0.11818	0.18	0.80722	D	1	B;B;B;B	0.27853	0.034;0.191;0.041;0.091	B;B;B;B	0.26517	0.042;0.048;0.042;0.07	T	0.37384	-0.9708	10	0.23302	T	0.38	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	220;239;230;236	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	S	185;185;185;185;220;220;239;236;194;185	ENSP00000360949:P185S;ENSP00000360943:P185S;ENSP00000360945:P185S;ENSP00000412640:P185S;ENSP00000444450:P220S;ENSP00000441029:P220S;ENSP00000443191:P239S;ENSP00000262820:P236S;ENSP00000440707:P194S;ENSP00000419803:P185S	ENSP00000262820:P236S	P	-	1	0	KLHL13	116927952	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	CCT	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.453	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	protein_coding		G	NM_033495	-		117043924	-1	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117043924	G	A	117043924	3	1	102	1	0	0	0	0	1	0	0	0	8371	1232	43	2	1273	2	KLHL13	23	117043924	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	7121276	117043924	38226636	785	6695											
ODZ1	10178	genome.wustl.edu	37	chrX	123630962	123630962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcagggccagaagctAaggcgacaggagcaaagagt	14	9	1	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:123630962A>G	ENST00000371130.3	-	20	3662	c.3599T>C	c.(3598-3600)tTa>tCa	p.L1200S	TENM1_ENST00000422452.2_Missense_Mutation_p.L1200S|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1200					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCCAGAAGCTAAGGCGACAGG	0.458																																																	0								ENSG00000009694						115	103	107					X																	123630962		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3599T>C	X.37:g.123630962A>G	ENSP00000360171:p.Leu1200Ser	Somatic	0	40	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L1200S	ENST00000371130.3	37	c.3599	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287361	0.59976	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.91740	-2.9;-2.9	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000007	D	0.93387	0.7891	M	0.83483	2.645	0.80722	D	1	B;P;P	0.40000	0.361;0.546;0.698	B;B;B	0.43575	0.1;0.177;0.424	D	0.93962	0.7241	10	0.87932	D	0	.	14.3411	0.66627	1.0:0.0:0.0:0.0	.	1199;1200;1200	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1200	ENSP00000360171:L1200S;ENSP00000403954:L1200S	ENSP00000360171:L1200S	L	-	2	0	ODZ1	123458643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	1.765000	0.52091	0.486000	0.48141	TTA	-	NULL		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	A	NM_014253	-		123630962	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	G	G	123630962	A	G	123630962	3	3	102	1	0	0	0	0	1	0	0	0	10836	372	13	5	4651	5	ODZ1	23	123630962	Missense_Mutation	SNP	A	TCGA-DX-A8BP-01A-11D-A37C-09	6587038	123630962	31639598	786	6696											
ODZ1	10178	genome.wustl.edu	37	chrX	123637445	123637445	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatgtgatgcttattcaaaGaccagcctcctaggttagaa	8	8	1	3			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:123637445G>A	ENST00000371130.3	-	19	3473	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	TENM1_ENST00000422452.2_Missense_Mutation_p.S1137F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1137					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTATTCAAAGACCAGCCTCC	0.358																																																	0								ENSG00000009694						166	161	162					X																	123637445		2203	4299	6502	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3410C>T	X.37:g.123637445G>A	ENSP00000360171:p.Ser1137Phe	Somatic	0	52	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S1137F	ENST00000371130.3	37	c.3410	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212220	0.58452	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87179	-2.22;-2.18	5.7	5.7	0.88788	.	0.134112	0.51477	D	0.000085	D	0.88187	0.6369	M	0.76170	2.325	0.58432	D	0.999995	P;P;P	0.42123	0.771;0.771;0.712	B;B;B	0.39617	0.305;0.305;0.245	D	0.89754	0.3942	10	0.87932	D	0	.	18.865	0.92289	0.0:0.0:1.0:0.0	.	1136;1137;1137	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1137	ENSP00000360171:S1137F;ENSP00000403954:S1137F	ENSP00000360171:S1137F	S	-	2	0	ODZ1	123465126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.402000	0.81655	0.600000	0.82982	TCT	-	NULL		0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	G	NM_014253	-		123637445	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123637445	G	A	123637445	3	1	102	1	0	0	0	0	1	0	0	0	10836	942	33	2	4844	2	ODZ1	23	123637445	Missense_Mutation	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	6483	123637445	31633115	787	6697											
USP26	83844	genome.wustl.edu	37	chrX	132161247	132161247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggtaagagcattaagGggaattttaccccatgggaa	11	7	0	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:132161247G>A	ENST00000511190.1	-	6	1471	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	USP26_ENST00000370832.1_Silent_p.P334P|USP26_ENST00000406273.1_Silent_p.P334P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	334	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GAGCATTAAGGGGAATTTTAC	0.363																																					NSCLC(104;342 1621 36940 47097 52632)												0								ENSG00000134588						32	34	33					X																	132161247		2189	4274	6463	USP26	SO:0001819	synonymous_variant	0			-	HGNC	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1002C>T	X.37:g.132161247G>A		Somatic	0	59	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	B9WRT6|Q5H9H4	Silent	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P334	ENST00000511190.1	37	c.1002	CCDS14635.1	X																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.363	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	protein_coding	OTTHUMT00000359441.1	G	NM_031907	-		132161247	-1	no_errors	ENST00000370832	ensembl	human	known	74_37	silent	SNP	0.031	A	A	132161247	G	A	132161247	2	1	102	1	0	0	0	0	0	0	0	1	17064	1219	43	2		2	USP26	23	132161247	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	8523802	132161247	23109313	788	6698											
GPR112	139378	genome.wustl.edu	37	chrX	135427472	135427472	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaaattttcaggatgtctCtttacccagagtggaagatg	9	7	2	2			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:135427472C>T	ENST00000394143.1	+	6	1898	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	GPR112_ENST00000287534.4_Missense_Mutation_p.S473F|GPR112_ENST00000412101.1_Missense_Mutation_p.S331F|GPR112_ENST00000394141.1_Missense_Mutation_p.S331F|GPR112_ENST00000370652.1_Missense_Mutation_p.S536F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	536					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)					CAGGATGTCTCTTTACCCAGA	0.433																																																	0								ENSG00000156920						60	55	56					X																	135427472		2202	4300	6502	GPR112	SO:0001583	missense	0			-	HGNC	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.1607C>T	X.37:g.135427472C>T	ENSP00000377699:p.Ser536Phe	Somatic	0	35	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	5	68.75	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S536F	ENST00000394143.1	37	c.1607	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	7.706	0.694214	0.15039	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29655	1.6;1.6;1.56;1.71;1.56	3.42	2.52	0.30459	.	.	.	.	.	T	0.15869	0.0382	N	0.17082	0.46	0.09310	N	1	B;B;B	0.31227	0.314;0.053;0.014	B;B;B	0.35510	0.204;0.025;0.007	T	0.29488	-1.0010	9	0.02654	T	1	.	7.0052	0.24831	0.0:0.8552:0.0:0.1448	.	473;331;536	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	536;536;331;473;331	ENSP00000377699:S536F;ENSP00000359686:S536F;ENSP00000416526:S331F;ENSP00000287534:S473F;ENSP00000377697:S331F	ENSP00000287534:S473F	S	+	2	0	GPR112	135255138	0.624000	0.27102	0.003000	0.11579	0.122000	0.20287	0.599000	0.24089	0.546000	0.28920	0.411000	0.27672	TCT	-	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	C		-		135427472	1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	SNP	0.003	T	T	135427472	C	T	135427472	3	4	102	1	0	0	0	0	1	0	0	0	6631	913	32	2	1617	2	GPR112	23	135427472	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3266225	135427472	19843088	789	6699											
MCF2	4168	genome.wustl.edu	37	chrX	138678842	138678842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtttgaatctagccaaatCcttcatttttgtagcacctt	6	9	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:138678842C>T	ENST00000370576.4	-	19	2352	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	MCF2_ENST00000536274.1_Missense_Mutation_p.D676N|MCF2_ENST00000338585.6_Missense_Mutation_p.D731N|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000414978.1_Missense_Mutation_p.D775N|MCF2_ENST00000370578.4_Missense_Mutation_p.D860N|MCF2_ENST00000370573.4_Missense_Mutation_p.D715N|MCF2_ENST00000519895.1_Missense_Mutation_p.D791N|MCF2_ENST00000520602.1_Missense_Mutation_p.D775N	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	715	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTAGCCAAATCCTTCATTTTT	0.408																																																	0								ENSG00000101977						194	162	173					X																	138678842		2203	4300	6503	MCF2	SO:0001583	missense	0			-	HGNC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2143G>A	X.37:g.138678842C>T	ENSP00000359608:p.Asp715Asn	Somatic	0	56	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D860N	ENST00000370576.4	37	c.2578	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.125124|5.125124	0.94429|0.94429	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.52983|.	1.2;1.09;1.01;1.19;1.2;0.64;1.25;1.12;1.15|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.135518|.	0.64402|.	D|.	0.000002|.	D|D	0.83294|0.83294	0.5223|0.5223	M|M	0.86651|0.86651	2.83|2.83	0.49798|0.49798	D|D	0.999823|0.999823	D;D;D;D;D;D;D;D|.	0.71674|.	0.992;0.992;0.997;0.997;0.998;0.997;0.998;0.996|.	P;P;D;D;D;D;D;D|.	0.70016|.	0.89;0.859;0.948;0.951;0.967;0.928;0.957;0.924|.	D|D	0.85194|0.85194	0.1011|0.1011	10|5	0.66056|.	D|.	0.02|.	.|.	17.7793|17.7793	0.88518|0.88518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	791;860;676;715;715;860;731;715|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	N|E	775;715;676;860;775;318;791;715;731|218	ENSP00000427745:D775N;ENSP00000359608:D715N;ENSP00000438155:D676N;ENSP00000359610:D860N;ENSP00000397055:D775N;ENSP00000405848:D318N;ENSP00000430276:D791N;ENSP00000359605:D715N;ENSP00000342204:D731N|.	ENSP00000342204:D731N|.	D|G	-|-	1|2	0|0	MCF2|MCF2	138506508|138506508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.792000|7.792000	0.85828|0.85828	2.417000|2.417000	0.82017|0.82017	0.600000|0.600000	0.82982|0.82982	GAT|GGA	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.408	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	protein_coding	OTTHUMT00000058560.1	C	NM_005369	-		138678842	-1	no_errors	ENST00000370578	ensembl	human	known	74_37	missense	SNP	1.000	T	T	138678842	C	T	138678842	3	4	102	1	0	0	0	0	1	0	0	0	9380	855	30	2	690	2	MCF2	23	138678842	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	3251370	138678842	16591718	790	6700											
AFF2	2334	genome.wustl.edu	37	chrX	147744250	147744250	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagtgcagccagttcaaaGactaaactgccaaagttcac	7	13	2	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:147744250G>A	ENST00000370460.2	+	3	1481	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	AFF2_ENST00000342251.3_Silent_p.K330K|AFF2_ENST00000370458.1_Silent_p.K330K|AFF2_ENST00000370457.5_Silent_p.K330K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	334					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)			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)					CCAGTTCAAAGACTAAACTGC	0.378																																																	0								ENSG00000155966						43	40	41					X																	147744250		2203	4298	6501	AFF2	SO:0001819	synonymous_variant	0			-	HGNC	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.1002G>A	X.37:g.147744250G>A		Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	19	56.82	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP							pfam_TF_AF4/FMR2	p.K334	ENST00000370460.2	37	c.1002	CCDS14684.1	X																																																																																			-	pfam_TF_AF4/FMR2		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	-		147744250	1	no_errors	ENST00000370460	ensembl	human	known	74_37	silent	SNP	1.000	A	A	147744250	G	A	147744250	2	1	102	1	0	0	0	0	0	0	0	1	357	933	33	2		2	AFF2	23	147744250	Silent	SNP	G	TCGA-DX-A8BP-01A-11D-A37C-09	9065408	147744250	7526310	791	6701											
AFF2	2334	genome.wustl.edu	37	chrX	147744270	147744270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaaactgccaaagttcaCcatcctccaaacaagtgaag	6	12	1	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:147744270C>T	ENST00000370460.2	+	3	1501	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I	AFF2_ENST00000342251.3_Missense_Mutation_p.T337I|AFF2_ENST00000370458.1_Missense_Mutation_p.T337I|AFF2_ENST00000370457.5_Missense_Mutation_p.T337I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	341					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)			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)					CCAAAGTTCACCATCCTCCAA	0.368																																																	0								ENSG00000155966						36	34	35					X																	147744270		2201	4294	6495	AFF2	SO:0001583	missense	0			-	HGNC	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.1022C>T	X.37:g.147744270C>T	ENSP00000359489:p.Thr341Ile	Somatic	0	75	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	20	56.52	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.T341I	ENST00000370460.2	37	c.1022	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539000	0.45176	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.92	5.05	0.67936	.	0.049990	0.85682	D	0.000000	T	0.64983	0.2648	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;D	0.69078	0.379;0.379;0.379;0.379;0.433;0.997	B;B;B;B;B;D	0.64042	0.155;0.155;0.155;0.155;0.241;0.921	T	0.67428	-0.5673	10	0.72032	D	0.01	.	10.2069	0.43118	0.1418:0.7829:0.0:0.0753	.	341;337;337;337;341;337	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	I	341;337;337;337	ENSP00000359489:T341I;ENSP00000359486:T337I;ENSP00000345459:T337I;ENSP00000359487:T337I	ENSP00000345459:T337I	T	+	2	0	AFF2	147551962	0.966000	0.33281	0.970000	0.41538	0.959000	0.62525	2.182000	0.42556	2.492000	0.84095	0.600000	0.82982	ACC	-	pfam_TF_AF4/FMR2		0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	C	NM_002025	-		147744270	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	0.934	T	T	147744270	C	T	147744270	3	4	102	1	0	0	0	0	1	0	0	0	357	507	18	2	1032	2	AFF2	23	147744270	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	20	147744270	7526290	792	6702											
IL9R	3581	genome.wustl.edu	37	chrX	155239914	155239914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctgggcccatcccagCcctggcctgtggcctttctt	11	16	2	0			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:155239914C>T	ENST00000244174.5	+	9	1585	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.A448V|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	469					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					CCCATCCCAGCCCTGGCCTGT	0.617																																																	0								ENSG00000124334						4	6	6					X																	155239914		1619	3406	5025	IL9R	SO:0001583	missense	0			-	HGNC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1406C>T	X.37:g.155239914C>T	ENSP00000244174:p.Ala469Val	Somatic	0	38	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.A469V	ENST00000244174.5	37	c.1406	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	5.191	0.220864	0.09863	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.17370	2.28;2.28	1.44	1.44	0.22558	.	290.321000	0.00166	N	0.000000	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27971	-1.0058	9	0.08837	T	0.75	-11.7044	5.8372	0.18613	0.0:1.0:0.0:0.0	.	469	Q01113	IL9R_HUMAN	V	469;448	ENSP00000244174:A469V;ENSP00000388918:A448V	ENSP00000244174:A469V	A	+	2	0	IL9R	154893108	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	0.713000	0.25794	1.015000	0.39444	0.287000	0.19450	GCC	-	NULL		0.617	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	protein_coding	OTTHUMT00000058981.1	C	NM_002186	-		155239914	1	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	SNP	0.001	T	T	155239914	C	T	155239914	3	4	102	1	0	0	0	0	1	0	0	0	7710	739	26	2	1440	2	IL9R	23	155239914	Missense_Mutation	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09	7495644	155239914	30646	793	6703											
TSPY2	64591	genome.wustl.edu	37	chrY	6115641	6115641	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtgttcatctctgcaagatCatgttgttctttcggagtaa	9	8	4	1			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrY:6115641C>T	ENST00000320701.4	+	3	649	c.603C>T	c.(601-603)atC>atT	p.I201I	TSPY2_ENST00000383042.1_Silent_p.I201I	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	201					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				liver(1)|lung(4)|prostate(1)|skin(1)	7						TCTGCAAGATCATGTTGTTCT	0.468																																																	0								ENSG00000168757																																			TSPY2	SO:0001819	synonymous_variant	0			-	HGNC	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.603C>T	Y.37:g.6115641C>T		Somatic	0	328	0		0.589014538124384				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	167	15.08		Silent	SNP							pfam_NAP_family	p.I201	ENST00000320701.4	37	c.603	CCDS35465.1	Y																																																																																			-	pfam_NAP_family		0.468	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPY2	protein_coding	OTTHUMT00000098313.1	C	NM_022573	-		6115641	1	no_errors	ENST00000320701	ensembl	human	known	74_37	silent	SNP	0.991	T	T	6115641	C	T	6115641	2	4	102	1	0	0	0	0	0	0	0	1	16665	816	29	2		2	TSPY2	24	6115641	Silent	SNP	C	TCGA-DX-A8BP-01A-11D-A37C-09		6115641	53257925	794	6704											
DOCK7	85440	genome.wustl.edu	37	chr1	63084514	63084514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatggggattttcaggtgcGggagaaatgtctatcttgag	14	4	3	2	rs374462701		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:63084514G>T	ENST00000340370.5	-	14	1562	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	DOCK7_ENST00000251157.5_Silent_p.P515P|DOCK7_ENST00000404627.2_Silent_p.P515P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	515					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTCAGGTGCGGGAGAAATGT	0.373																																																	0								ENSG00000116641						119	129	126					1																	63084514		2203	4300	6503	DOCK7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1545C>A	1.37:g.63084514G>T		Somatic	0	49	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.P515	ENST00000340370.5	37	c.1545	CCDS30734.1	1																																																																																			-	NULL		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	G	NM_033407	-		63084514	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	silent	SNP	0.992	T	T	63084514	G	T	63084514	2	4	103	1	0	0	0	0	0	0	0	1	4694	1103	39	3		3	DOCK7	1	63084514	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		63084514	186166107	1	6705											
BCAR3	8412	genome.wustl.edu	37	chr1	94032937	94032937	+	Frame_Shift_Del	DEL	T	T	-													tgatttcacagctctggtcgTttttttcccacatgtcggtt					rs78349214	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:94032937delT	ENST00000370244.1	-	13	2486	c.2198delA	c.(2197-2199)aacfs	p.N733fs	BCAR3_ENST00000370247.3_Frame_Shift_Del_p.N642fs|BCAR3_ENST00000370243.1_Frame_Shift_Del_p.N733fs|BCAR3_ENST00000539242.1_Frame_Shift_Del_p.N409fs|BCAR3_ENST00000260502.6_Frame_Shift_Del_p.N733fs	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	733	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		GCTCTGGTCGTTTTTTTCCCA	0.522																																																	0								ENSG00000137936						160	139	146					1																	94032937		2203	4300	6503	BCAR3	SO:0001589	frameshift_variant	0				HGNC	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.2198delA	1.37:g.94032937delT	ENSP00000359264:p.Asn733fs	Somatic	0	29	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Frame_Shift_Del	DEL							pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.N733fs	ENST00000370244.1	37	c.2198	CCDS745.1	1																																																																																			-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.522	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	protein_coding	OTTHUMT00000028420.1	T				94032937	-1	no_errors	ENST00000260502	ensembl	human	known	74_37	frame_shift_del	DEL	0.995	-	-	94032937	T	-	94032937	7	5	103	1	0	1	0	1	0	0	0	0	1349	1725	60	0	287	0	BCAR3	1	94032937	Frame_Shift_Del	DEL	T	TCGA-DX-A8BQ-01A-11D-A37C-09	30948423	94032937	155217684	2	6706											
C1orf107	27042	genome.wustl.edu	37	chr1	210006614	210006614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcccccgaagagttcaCagatgcaaaacacgagtcac	7	13	2	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:210006614C>T	ENST00000491415.2	+	4	530	c.473C>T	c.(472-474)aCa>aTa	p.T158I		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	158	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAGAGTTCACAGATGCAAAA	0.468																																																	0								ENSG00000117597						109	99	102					1																	210006614		2203	4300	6503	DIEXF	SO:0001583	missense	0			-	HGNC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.473C>T	1.37:g.210006614C>T	ENSP00000419005:p.Thr158Ile	Somatic	0	34	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP							pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.T158I	ENST00000491415.2	37	c.473	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722262	0.30503	.	.	ENSG00000117597	ENST00000491415	T	0.44881	0.91	5.68	4.77	0.60923	.	0.150212	0.64402	D	0.000016	T	0.37652	0.1011	L	0.47716	1.5	0.45995	D	0.998807	B	0.11235	0.004	B	0.09377	0.004	T	0.13019	-1.0525	10	0.35671	T	0.21	-5.3028	14.4437	0.67336	0.0:0.9296:0.0:0.0704	.	158	Q68CQ4	DIEXF_HUMAN	I	158	ENSP00000419005:T158I	ENSP00000419005:T158I	T	+	2	0	DIEXF	208073237	0.998000	0.40836	1.000000	0.80357	0.335000	0.28730	2.209000	0.42806	1.419000	0.47118	0.650000	0.86243	ACA	-	NULL		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	C	NM_014388	-		210006614	1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	SNP	1.000	T	T	210006614	C	T	210006614	3	4	103	1	0	0	0	0	1	0	0	0	1983	478	17	2	487	2	C1orf107	1	210006614	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	115973677	210006614	39244007	3	6707											
NLRC4	58484	genome.wustl.edu	37	chr2	32449835	32449835	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctttccaaaaaatgcacCtgggtaaagaaataagtata	7	6	1	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:32449835C>T	ENST00000404025.2	-	10	3271		c.e10-1		NLRC4_ENST00000360906.5_Splice_Site|NLRC4_ENST00000402280.1_Splice_Site|NLRC4_ENST00000342905.6_Splice_Site			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4						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)					AAAAATGCACCTGGGTAAAGA	0.333																																																	0								ENSG00000091106						34	36	36					2																	32449835		2203	4300	6503	NLRC4	SO:0001630	splice_region_variant	0			-	HGNC	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.2783-1G>A	2.37:g.32449835C>T		Somatic	0	52	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Splice_Site	SNP							-	e8-1	ENST00000404025.2	37	c.2783-1	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953232	0.18431	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.15	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3732	0.49713	0.0:0.8155:0.1845:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLRC4	32303339	0.999000	0.42202	0.684000	0.30055	0.281000	0.26958	1.571000	0.36450	1.088000	0.41272	0.655000	0.94253	.	-	-		0.333	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	protein_coding	OTTHUMT00000325222.2	C	NM_021209	-	Intron	32449835	-1	no_errors	ENST00000360906	ensembl	human	known	74_37	splice_site	SNP	0.686	T	T	32449835	C	T	32449835	5	4	103	1	0	0	0	0	0	0	1	0	10471	695	24	2	296	2	NLRC4	2	32449835	Splice_Site	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		32449835	210749538	4	6708											
PEX13	5194	genome.wustl.edu	37	chr2	61259221	61259221	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcatttggaaactaTtgtctactcacagtgatgaa	6	9	3	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:61259221T>A	ENST00000295030.5	+	2	798	c.760T>A	c.(760-762)Ttg>Atg	p.L254M		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	254					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)			TTGGAAACTATTGTCTACTCA	0.398																																																	0								ENSG00000162928						121	108	112					2																	61259221		2203	4300	6503	PEX13	SO:0001583	missense	0			-	HGNC	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.760T>A	2.37:g.61259221T>A	ENSP00000295030:p.Leu254Met	Somatic	0	42	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B2RCS1	Missense_Mutation	SNP							pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.L254M	ENST00000295030.5	37	c.760	CCDS1866.1	2	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250380	0.59212	.	.	ENSG00000162928	ENST00000295030	T	0.79247	-1.25	5.6	3.79	0.43588	Peroxin 13, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.79475	2.455	0.80722	D	1	D	0.63046	0.992	P	0.60117	0.869	D	0.84171	0.0434	9	.	.	.	-9.5051	11.3809	0.49757	0.0:0.8508:0.0:0.1492	.	254	Q92968	PEX13_HUMAN	M	254	ENSP00000295030:L254M	.	L	+	1	2	PEX13	61112725	1.000000	0.71417	0.987000	0.45799	0.890000	0.51754	1.545000	0.36169	0.685000	0.31468	-0.242000	0.12053	TTG	-	pfam_Peroxin-13_N		0.398	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX13	protein_coding	OTTHUMT00000251581.3	T	NM_002618	-		61259221	1	no_errors	ENST00000295030	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61259221	T	A	61259221	3	1	103	1	0	0	0	0	1	0	0	0	11743	1490	52	5	766	5	PEX13	2	61259221	Missense_Mutation	SNP	T	TCGA-DX-A8BQ-01A-11D-A37C-09	28809386	61259221	181940152	5	6709											
MERTK	10461	genome.wustl.edu	37	chr2	112687051	112687051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgggaaggaattgcttgGggcacatcatgcaattacac	12	7	1	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:112687051G>A	ENST00000295408.4	+	2	673	c.416G>A	c.(415-417)gGg>gAg	p.G139E	RN7SL297P_ENST00000483161.2_RNA|MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G139E			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	139	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GAATTGCTTGGGGCACATCAT	0.358																																																	0								ENSG00000153208						120	108	112					2																	112687051		2203	4300	6503	MERTK	SO:0001583	missense	0			-	HGNC	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.416G>A	2.37:g.112687051G>A	ENSP00000295408:p.Gly139Glu	Somatic	0	31	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q9HBB4	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G139E	ENST00000295408.4	37	c.416	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452738	0.26074	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.64085	-0.08;-0.08	4.37	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34133	U	0.004223	T	0.48554	0.1506	L	0.45581	1.43	0.28497	N	0.914213	B	0.26935	0.164	B	0.25614	0.062	T	0.37103	-0.9720	10	0.30854	T	0.27	-12.4491	6.0144	0.19594	0.3199:0.0:0.6801:0.0	.	139	Q12866	MERTK_HUMAN	E	139	ENSP00000295408:G139E;ENSP00000389152:G139E	ENSP00000295408:G139E	G	+	2	0	MERTK	112403522	0.916000	0.31088	0.993000	0.49108	0.989000	0.77384	1.126000	0.31344	0.471000	0.27319	0.557000	0.71058	GGG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.358	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	G		-		112687051	1	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	SNP	0.940	A	A	112687051	G	A	112687051	3	1	103	1	0	0	0	0	1	0	0	0	9481	1232	43	2	422	2	MERTK	2	112687051	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	51427830	112687051	130512322	6	6710											
YSK4	80122	genome.wustl.edu	37	chr2	135743708	135743708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagatgcactttcttGttttgcttggaaagagaaat	11	5	1	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:135743708G>T	ENST00000375845.3	-	7	2764	c.2734C>A	c.(2734-2736)Caa>Aaa	p.Q912K	MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q799K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q929K	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	912							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCACTTTCTTGTTTTGCTTGG	0.313																																																	0								ENSG00000176601						66	66	66					2																	135743708		2203	4300	6503	MAP3K19	SO:0001583	missense	0			-	HGNC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2734C>A	2.37:g.135743708G>T	ENSP00000365005:p.Gln912Lys	Somatic	0	42	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q912K	ENST00000375845.3	37	c.2734	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417062	0.11870	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.71934	-0.48;-0.47;1.92;-0.61	5.01	3.12	0.35913	.	0.516802	0.16742	N	0.201405	T	0.60287	0.2257	L	0.42245	1.32	0.21604	N	0.999627	P;P;P	0.43938	0.822;0.822;0.728	B;B;B	0.41510	0.194;0.359;0.196	T	0.50608	-0.8808	10	0.23302	T	0.38	.	10.2749	0.43504	0.0787:0.1397:0.7815:0.0	.	799;929;912	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	K	912;799;929;302	ENSP00000365005:Q912K;ENSP00000351140:Q799K;ENSP00000376647:Q929K;ENSP00000392827:Q302K	ENSP00000351140:Q799K	Q	-	1	0	YSK4	135460178	0.008000	0.16893	0.594000	0.28785	0.252000	0.25951	1.522000	0.35921	2.594000	0.87642	0.455000	0.32223	CAA	-	NULL		0.313	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	protein_coding	OTTHUMT00000158244.1	G	NM_025052	-		135743708	-1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	SNP	0.006	T	T	135743708	G	T	135743708	3	4	103	1	0	0	0	0	1	0	0	0	17502	1386	48	3	1268	3	YSK4	2	135743708	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	23056657	135743708	107455665	7	6711											
FAP	2191	genome.wustl.edu	37	chr2	163031447	163031447	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccagttccagatgcaagGgccagtgatgaaacgtatcc	11	10	0	4			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:163031447G>T	ENST00000188790.4	-	22	2106	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Silent_p.A608A	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAGATGCAAGGGCCAGTGATG	0.408																																																	0								ENSG00000078098						122	106	111					2																	163031447		2203	4300	6503	FAP	SO:0001819	synonymous_variant	0			-	HGNC	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1899C>A	2.37:g.163031447G>T		Somatic	0	42	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Silent	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A633	ENST00000188790.4	37	c.1899	CCDS33311.1	2																																																																																			-	pfam_Peptidase_S9		0.408	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	protein_coding	OTTHUMT00000332852.2	G		-		163031447	-1	no_errors	ENST00000188790	ensembl	human	known	74_37	silent	SNP	1.000	T	T	163031447	G	T	163031447	2	4	103	1	0	0	0	0	0	0	0	1	5675	1219	43	3		3	FAP	2	163031447	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	27287739	163031447	80167926	8	6712											
TTN	7273	genome.wustl.edu	37	chr2	179554618	179554618	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacaggtttctttggcacctCtgggacttaaagtttttgaa	10	7	2	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:179554618C>A	ENST00000591111.1	-	120	31041	c.30817G>T	c.(30817-30819)Gag>Tag	p.E10273*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E9346*|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E10590*			Q8WZ42	TITIN_HUMAN	titin	0	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)			TTTGGCACCTCTGGGACTTAA	0.388																																																	0								ENSG00000155657						155	148	150					2																	179554618		1834	4081	5915	TTN	SO:0001587	stop_gained	0			-	HGNC	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.30817G>T	2.37:g.179554618C>A	ENSP00000465570:p.Glu10273*	Somatic	0	28	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	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	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E9346*	ENST00000591111.1	37	c.28036		2	.	.	.	.	.	.	.	.	.	.	C	35	5.570193	0.96540	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6229	0.56614	0.0:0.9237:0.0:0.0762	.	.	.	.	X	9346;468;100	.	ENSP00000343764:E9346X	E	-	1	0	TTN	179262863	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.449000	0.52950	2.629000	0.89072	0.561000	0.74099	GAG	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179554618	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	179554618	C	A	179554618	4	1	103	1	0	0	0	0	0	1	0	0	16742	922	32	3	72725	3	TTN	2	179554618	Nonsense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	16523171	179554618	63644755	9	6713											
SF3B1	23451	genome.wustl.edu	37	chr2	198265477	198265477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaagcataaagaataccatCaatcagttgttcttcaagtt	6	7	4	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:198265477C>G	ENST00000335508.6	-	18	2771	c.2680G>C	c.(2680-2682)Gat>Cat	p.D894H	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	894					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)			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)			AGAATACCATCAATCAGTTGT	0.333			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0								ENSG00000115524						145	142	143					2																	198265477		2203	4299	6502	SF3B1	SO:0001583	missense	0			-	HGNC	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.2680G>C	2.37:g.198265477C>G	ENSP00000335321:p.Asp894His	Somatic	0	34	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	E9PCH3	Missense_Mutation	SNP							pfam_SF3b_su1,superfamily_ARM-type_fold	p.D894H	ENST00000335508.6	37	c.2680	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563608	0.86335	.	.	ENSG00000115524	ENST00000335508	T	0.68331	-0.32	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91728	0.5394	10	0.87932	D	0	.	20.2175	0.98301	0.0:1.0:0.0:0.0	.	894	O75533	SF3B1_HUMAN	H	894	ENSP00000335321:D894H	ENSP00000335321:D894H	D	-	1	0	SF3B1	197973722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.717000	0.84732	2.850000	0.98022	0.655000	0.94253	GAT	-	superfamily_ARM-type_fold		0.333	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	C		-		198265477	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	SNP	1.000	G	G	198265477	C	G	198265477	3	3	103	1	0	0	0	0	1	0	0	0	14157	826	29	4	1266	4	SF3B1	2	198265477	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	18710859	198265477	44933896	10	6714											
TOP2B	7155	genome.wustl.edu	37	chr3	25675377	25675377	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatttgctggaatccTttttcactcaatgtgagaca	8	8	2	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:25675377T>C	ENST00000264331.4	-	8	980	c.981A>G	c.(979-981)aaA>aaG	p.K327K	TOP2B_ENST00000435706.2_Silent_p.K322K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	327					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GCTGGAATCCTTTTTCACTCA	0.348																																																	0								ENSG00000077097						162	156	158					3																	25675377		1848	4087	5935	TOP2B	SO:0001819	synonymous_variant	0			-	HGNC	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.981A>G	3.37:g.25675377T>C		Somatic	0	33	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q13600|Q9UMG8|Q9UQP8	Silent	SNP							pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.K327	ENST00000264331.4	37	c.981		3																																																																																			-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3		0.348	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	protein_coding		T		-		25675377	-1	no_errors	ENST00000264331	ensembl	human	known	74_37	silent	SNP	1.000	C	C	25675377	T	C	25675377	2	2	103	1	0	0	0	0	0	0	0	1	16373	1606	56	5		5	TOP2B	3	25675377	Silent	SNP	T	TCGA-DX-A8BQ-01A-11D-A37C-09		25675377	172347053	11	6715											
TRANK1	9881	genome.wustl.edu	37	chr3	36874693	36874693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcattctgagctatctgGcaatacttggcatccacctg	10	11	3	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:36874693G>A	ENST00000429976.2	-	21	6496	c.6249C>T	c.(6247-6249)tgC>tgT	p.C2083C	TRANK1_ENST00000301807.6_Silent_p.C1533C|TRANK1_ENST00000428977.2_Silent_p.C1533C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2083							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGCTATCTGGCAATACTTGG	0.388																																																	0								ENSG00000168016						42	40	41					3																	36874693		1843	4101	5944	TRANK1	SO:0001819	synonymous_variant	0			-	HGNC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6249C>T	3.37:g.36874693G>A		Somatic	0	39	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q8N8K0	Silent	SNP							pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.C2083	ENST00000429976.2	37	c.6249	CCDS46789.2	3																																																																																			-	NULL		0.388	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	protein_coding		G	NM_014831	-		36874693	-1	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	SNP	1.000	A	A	36874693	G	A	36874693	2	1	103	1	0	0	0	0	0	0	0	1	16461	1195	42	2		2	TRANK1	3	36874693	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	11199316	36874693	161147737	12	6716											
GBE1	2632	genome.wustl.edu	37	chr3	81586138	81586138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattatttaggaacttgtagCgaagaaggtcgtcgtcagtt	11	5	1	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:81586138C>T	ENST00000429644.2	-	13	2370	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	GBE1_ENST00000489715.1_Missense_Mutation_p.R535H	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	576					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAACTTGTAGCGAAGAAGGTC	0.423									Glycogen Storage Disease, type IV																																								0								ENSG00000114480						115	111	112					3																	81586138		1837	4085	5922	GBE1	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-	HGNC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1727G>A	3.37:g.81586138C>T	ENSP00000410833:p.Arg576His	Somatic	0	24	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B3KWV3|Q96EN0	Missense_Mutation	SNP							pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.R576H	ENST00000429644.2	37	c.1727	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775772	0.90195	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	T;T	0.20598	2.06;2.08	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	H	0.98048	4.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.79664	-0.1709	10	0.87932	D	0	-16.3278	19.3052	0.94158	0.0:1.0:0.0:0.0	.	535;576	E9PGM4;Q04446	.;GLGB_HUMAN	H	576;627;535;339	ENSP00000410833:R576H;ENSP00000419638:R535H	ENSP00000264326:R627H	R	-	2	0	GBE1	81668828	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.639000	0.89480	0.650000	0.86243	CGC	-	superfamily_Glycoside_hydrolase_SF		0.423	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	protein_coding	OTTHUMT00000352760.2	C		-		81586138	-1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81586138	C	T	81586138	3	4	103	1	0	0	0	0	1	0	0	0	6272	768	27	1	397	1	GBE1	3	81586138	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	44711445	81586138	116436292	13	6717											
GPR15	2838	genome.wustl.edu	37	chr3	98251458	98251458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactccaattaaactcaTatggtccctggtggccttaa	8	11	1	0			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:98251458T>C	ENST00000284311.3	+	1	716	c.581T>C	c.(580-582)aTa>aCa	p.I194T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	194					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATTAAACTCATATGGTCCCTG	0.478																																																	0								ENSG00000154165						156	143	148					3																	98251458		2203	4300	6503	GPR15	SO:0001583	missense	0			-	HGNC		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.581T>C	3.37:g.98251458T>C	ENSP00000284311:p.Ile194Thr	Somatic	0	39	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q3MIL4|Q6ISN6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.I194T	ENST00000284311.3	37	c.581	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.416154	0.01136	.	.	ENSG00000154165	ENST00000284311	T	0.38401	1.14	4.74	-0.795	0.10915	GPCR, rhodopsin-like superfamily (1);	0.861135	0.10073	N	0.719506	T	0.16214	0.0390	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.22706	T	0.39	2.5421	8.6081	0.33786	0.0:0.5207:0.0:0.4793	.	194	P49685	GPR15_HUMAN	T	194	ENSP00000284311:I194T	ENSP00000284311:I194T	I	+	2	0	GPR15	99734148	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.734000	0.04893	-0.219000	0.10003	-0.959000	0.02639	ATA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.478	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	protein_coding	OTTHUMT00000358907.1	T		-		98251458	1	no_errors	ENST00000284311	ensembl	human	known	74_37	missense	SNP	0.000	C	C	98251458	T	C	98251458	3	2	103	1	0	0	0	0	1	0	0	0	6657	1406	49	5	583	5	GPR15	3	98251458	Missense_Mutation	SNP	T	TCGA-DX-A8BQ-01A-11D-A37C-09	16665320	98251458	99770972	14	6718											
GABRA4	2557	genome.wustl.edu	37	chr4	46930612	46930612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggctgaatgggtttggaCtggaagctaagtaagaccga	14	7	0	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr4:46930612C>A	ENST00000264318.3	-	9	2277	c.1295G>T	c.(1294-1296)aGt>aTt	p.S432I		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	432					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)	TGGGTTTGGACTGGAAGCTAA	0.458																																					Ovarian(6;283 369 8234 12290 33402)												0								ENSG00000109158						122	113	116					4																	46930612		2203	4300	6503	GABRA4	SO:0001583	missense	0			-	HGNC		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.1295G>T	4.37:g.46930612C>A	ENSP00000264318:p.Ser432Ile	Somatic	0	40	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.33	Q8IYR7	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S432I	ENST00000264318.3	37	c.1295	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583100	0.86748	.	.	ENSG00000109158	ENST00000264318	D	0.86030	-2.06	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.634300	0.02925	N	0.138463	D	0.90590	0.7050	L	0.43152	1.355	0.49051	D	0.999741	D	0.67145	0.996	D	0.64877	0.93	T	0.77635	-0.2514	10	0.20519	T	0.43	.	17.0117	0.86408	0.0:1.0:0.0:0.0	.	432	P48169	GBRA4_HUMAN	I	432	ENSP00000264318:S432I	ENSP00000264318:S432I	S	-	2	0	GABRA4	46625369	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.110000	0.71535	2.706000	0.92434	0.650000	0.86243	AGT	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa4_rcpt,tigrfam_Neur_channel		0.458	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	protein_coding	OTTHUMT00000216893.1	C		-		46930612	-1	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46930612	C	A	46930612	3	1	103	1	0	0	0	0	1	0	0	0	6165	565	20	3	373	3	GABRA4	4	46930612	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		46930612	144223664	15	6719											
RASGEF1B	153020	genome.wustl.edu	37	chr4	82355797	82355797	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttatcacactcacctcaAaattgacatggccattggga	6	11	3	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr4:82355797A>T	ENST00000264400.2	-	11	1347	c.1196T>A	c.(1195-1197)tTt>tAt	p.F399Y	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.F398Y|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.F357Y	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	399	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACTCACCTCAAAATTGACATG	0.453																																																	0								ENSG00000138670						71	66	68					4																	82355797		2203	4300	6503	RASGEF1B	SO:0001583	missense	0			-	HGNC	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1196T>A	4.37:g.82355797A>T	ENSP00000264400:p.Phe399Tyr	Somatic	0	52	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F399Y	ENST00000264400.2	37	c.1196	CCDS34022.1	4	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849930	0.91277	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.41400	1.0;1.0;1.0	4.62	4.62	0.57501	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.987	T	0.74948	-0.3490	10	0.72032	D	0.01	.	13.8491	0.63485	1.0:0.0:0.0:0.0	.	357;398;399	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	Y	398;399;357	ENSP00000425393:F398Y;ENSP00000264400:F399Y;ENSP00000338437:F357Y	ENSP00000264400:F399Y	F	-	2	0	RASGEF1B	82574821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.685000	0.91246	1.954000	0.56735	0.477000	0.44152	TTT	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.453	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASGEF1B	protein_coding	OTTHUMT00000362830.1	A	NM_152545	-		82355797	-1	no_errors	ENST00000264400	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82355797	A	T	82355797	3	4	103	1	0	0	0	0	1	0	0	0	13078	14	1	5	241	5	RASGEF1B	4	82355797	Missense_Mutation	SNP	A	TCGA-DX-A8BQ-01A-11D-A37C-09	35425185	82355797	108798479	16	6720											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531451	140531451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaccgcggctccccggCgttgagcagcgaggcgctgg	16	15	0	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:140531451C>T	ENST00000231136.1	+	1	1613	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A402V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	538	Cadherin 5. {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)			GGCTCCCCGGCGTTGAGCAGC	0.677																																																	0								ENSG00000113211						52	59	56					5																	140531451		2202	4300	6502	PCDHB6	SO:0001583	missense	0			-	HGNC	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.1613C>T	5.37:g.140531451C>T	ENSP00000231136:p.Ala538Val	Somatic	1	186	0.53		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	145	22.46	B2R8R9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A538V	ENST00000231136.1	37	c.1613	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189820	0.57909	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.03181	4.02;4.02	4.19	3.31	0.37934	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.10508	0.0257	L	0.43701	1.375	0.22610	N	0.998936	D	0.76494	0.999	D	0.67382	0.951	T	0.11891	-1.0569	9	0.87932	D	0	.	9.352	0.38145	0.1426:0.7787:0.0:0.0787	.	538	Q9Y5E3	PCDB6_HUMAN	V	402;538;323	ENSP00000438466:A402V;ENSP00000231136:A538V	ENSP00000231136:A538V	A	+	2	0	PCDHB6	140511635	0.035000	0.19736	0.447000	0.26932	0.731000	0.41821	3.170000	0.50816	0.881000	0.35993	-0.255000	0.11280	GCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	C	NM_018939	-		140531451	1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	SNP	0.485	T	T	140531451	C	T	140531451	3	4	103	1	0	0	0	0	1	0	0	0	11548	768	27	1	1615	1	PCDHB6	5	140531451	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		140531451	40383809	17	6721											
PPARGC1B	133522	genome.wustl.edu	37	chr5	149227102	149227102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagcttactgaaagaggCccagcagagcctgcattgat	11	10	0	5			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:149227102C>T	ENST00000309241.5	+	12	3085	c.3053C>T	c.(3052-3054)gCc>gTc	p.A1018V	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A954V|PPARGC1B_ENST00000394320.3_3'UTR|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A979V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	1018					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGAAAGAGGCCCAGCAGAGC	0.468																																																	0								ENSG00000155846						139	135	136					5																	149227102		2203	4300	6503	PPARGC1B	SO:0001583	missense	0			-	HGNC	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.3053C>T	5.37:g.149227102C>T	ENSP00000312649:p.Ala1018Val	Somatic	0	46	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A1018V	ENST00000309241.5	37	c.3053	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954362	0.92726	.	.	ENSG00000155846	ENST00000360453;ENST00000309241;ENST00000403750	T;T;T	0.18338	2.23;2.25;2.22	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.45397	0.1340	M	0.74389	2.26	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.76575	0.988;0.988;0.972	T	0.33033	-0.9884	10	0.59425	D	0.04	-25.502	19.7538	0.96281	0.0:1.0:0.0:0.0	.	997;979;1018	Q86YN6-2;Q86YN6-5;Q86YN6	.;.;PRGC2_HUMAN	V	979;1018;954	ENSP00000353638:A979V;ENSP00000312649:A1018V;ENSP00000384403:A954V	ENSP00000312649:A1018V	A	+	2	0	PPARGC1B	149207295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.739000	0.93911	0.561000	0.74099	GCC	-	NULL		0.468	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	protein_coding	OTTHUMT00000252334.1	C	NM_133263	-		149227102	1	no_errors	ENST00000309241	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149227102	C	T	149227102	3	4	103	1	0	0	0	0	1	0	0	0	12303	739	26	2	3106	2	PPARGC1B	5	149227102	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	8695651	149227102	31688158	18	6722											
NUDCD2	134492	genome.wustl.edu	37	chr5	162884088	162884089	+	Splice_Site	INS	-	-	A													gaaccatttttctgtcctctINSaaaaaaaaaacacacacaca							TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:162884088_162884089insA	ENST00000302764.4	-	3	328		c.e3-2		NUDCD2_ENST00000517501.1_Intron|NUDCD2_ENST00000519395.1_Splice_Site	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTCTGTCCTCTAAAAAAAAAAC	0.366																																																	0								ENSG00000170584																																			NUDCD2	SO:0001630	splice_region_variant	0				HGNC	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.239-2->T	5.37:g.162884098_162884098dupA		Somatic	0	40	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B2R4V0	Splice_Site	INS							-	e3-2	ENST00000302764.4	37	c.239-3_239-2	CCDS4361.1	5																																																																																			-	-		0.366	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	protein_coding	OTTHUMT00000252747.3	-	NM_145266		Intron	162884089	-1	no_errors	ENST00000302764	ensembl	human	known	74_37	splice_site_ins	INS	0.984:0.001	A	A	162884089	-	A	162884088	8	5	103	1	0	1	1	0	0	0	1	0	10725	1536	53	0	244	0	NUDCD2	5	162884088	Splice_Site	INS	-	TCGA-DX-A8BQ-01A-11D-A37C-09	13656986	162884088	18031172	19	6723											
CANX	821	genome.wustl.edu	37	chr5	179132824	179132824	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtagaagactcaaaaccaGataccactgctcctccttca	6	13	2	3			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:179132824G>T	ENST00000247461.4	+	2	342	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	CANX_ENST00000504734.1_Missense_Mutation_p.D48Y|CANX_ENST00000452673.2_Missense_Mutation_p.D48Y|CANX_ENST00000512607.2_5'UTR|CANX_ENST00000415618.2_Missense_Mutation_p.D83Y	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	48					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	CTCAAAACCAGATACCACTGC	0.403																																																	0								ENSG00000127022						321	273	289					5																	179132824		2203	4300	6503	CANX	SO:0001583	missense	0			-	HGNC	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.142G>T	5.37:g.179132824G>T	ENSP00000247461:p.Asp48Tyr	Somatic	0	36	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP							pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.D83Y	ENST00000247461.4	37	c.247	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728395	0.48833	.	.	ENSG00000127022	ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000507307;ENST00000513246;ENST00000354394	T;T;T;T;D	0.83506	0.68;0.66;0.68;0.68;-1.73	4.33	4.33	0.51752	.	1.080430	0.07024	N	0.827298	D	0.85008	0.5599	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.96	P;P	0.56823	0.807;0.695	T	0.79960	-0.1583	10	0.87932	D	0	-13.4696	14.0207	0.64553	0.0:0.0:1.0:0.0	.	83;48	B4DGP8;P27824	.;CALX_HUMAN	Y	48;48;48;83;48;48;48;48;48;40	ENSP00000424063:D48Y;ENSP00000394817:D83Y;ENSP00000391646:D48Y;ENSP00000247461:D48Y;ENSP00000425246:D48Y	ENSP00000247461:D48Y	D	+	1	0	CANX	179065430	1.000000	0.71417	0.995000	0.50966	0.515000	0.34225	4.393000	0.59665	2.376000	0.81061	0.561000	0.74099	GAT	-	NULL		0.403	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	protein_coding	OTTHUMT00000253500.2	G	NM_001024649	-		179132824	1	no_errors	ENST00000415618	ensembl	human	known	74_37	missense	SNP	0.976	T	T	179132824	G	T	179132824	3	4	103	1	0	0	0	0	1	0	0	0	2620	942	33	3	144	3	CANX	5	179132824	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	16248736	179132824	1782436	20	6724											
SCGN	10590	genome.wustl.edu	37	chr6	25661862	25661862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctaaagatggtcgcattcGgatgaaagaggtaactttac	10	7	1	3			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:25661862G>A	ENST00000377961.2	+	3	404	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	79	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTCGCATTCGGATGAAAGAG	0.388																																																	0								ENSG00000079689						146	130	135					6																	25661862		2203	4300	6503	SCGN	SO:0001583	missense	0			-	HGNC	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.236G>A	6.37:g.25661862G>A	ENSP00000367197:p.Arg79Gln	Somatic	0	45	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.R79Q	ENST00000377961.2	37	c.236	CCDS4561.1	6	.	.	.	.	.	.	.	.	.	.	G	3.088	-0.187544	0.06299	.	.	ENSG00000079689	ENST00000377961	T	0.09163	3.01	3.24	-3.76	0.04359	EF-hand-like domain (1);	0.302232	0.36932	N	0.002338	T	0.00440	0.0014	N	0.00237	-1.79	0.27327	N	0.956875	B	0.02656	0.0	B	0.01281	0.0	T	0.38887	-0.9640	10	0.18276	T	0.48	.	1.18	0.01843	0.4595:0.1393:0.2567:0.1445	.	79	O76038	SEGN_HUMAN	Q	79	ENSP00000367197:R79Q	ENSP00000367197:R79Q	R	+	2	0	SCGN	25769841	0.261000	0.24063	0.031000	0.17742	0.227000	0.25037	0.122000	0.15687	-0.808000	0.04387	-0.383000	0.06682	CGG	-	NULL		0.388	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGN	protein_coding	OTTHUMT00000040067.1	G		-		25661862	1	no_errors	ENST00000377961	ensembl	human	known	74_37	missense	SNP	0.190	A	A	25661862	G	A	25661862	3	1	103	1	0	0	0	0	1	0	0	0	13911	1116	39	1	246	1	SCGN	6	25661862	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		25661862	145453205	21	6725											
ZBTB12	221527	genome.wustl.edu	37	chr6	31868083	31868083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggcacttggtgcactTgatgttctttaaggggtttc	12	8	1	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:31868083T>C	ENST00000375527.2	-	2	1175	c.1000A>G	c.(1000-1002)Aag>Gag	p.K334E	EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	334					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(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTGGTGCACTTGATGTTCTTT	0.667																																																	0								ENSG00000204366						34	35	35					6																	31868083		2203	4299	6502	ZBTB12	SO:0001583	missense	0			-	HGNC	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1000A>G	6.37:g.31868083T>C	ENSP00000364677:p.Lys334Glu	Somatic	0	49	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B0UY00|Q5JQ98	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K334E	ENST00000375527.2	37	c.1000	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	T	10.33	1.321017	0.23994	.	.	ENSG00000204366	ENST00000375527	T	0.01685	4.69	3.26	2.06	0.26882	Zinc finger, C2H2-like (1);	0.280390	0.32147	U	0.006514	T	0.00496	0.0016	N	0.24115	0.695	0.30284	N	0.790998	B	0.25105	0.118	B	0.24541	0.054	T	0.49560	-0.8927	10	0.52906	T	0.07	.	4.8767	0.13660	0.1849:0.0:0.1909:0.6242	.	334	Q9Y330	ZBT12_HUMAN	E	334	ENSP00000364677:K334E	ENSP00000364677:K334E	K	-	1	0	ZBTB12	31976062	0.980000	0.34600	0.956000	0.39512	0.881000	0.50899	-0.022000	0.12480	0.338000	0.23692	0.260000	0.18958	AAG	-	smart_Znf_C2H2-like		0.667	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	protein_coding	OTTHUMT00000076315.2	T	NM_181842	-		31868083	-1	no_errors	ENST00000375527	ensembl	human	known	74_37	missense	SNP	0.998	C	C	31868083	T	C	31868083	3	2	103	1	0	0	0	0	1	0	0	0	17532	1821	63	5	383	5	ZBTB12	6	31868083	Missense_Mutation	SNP	T	TCGA-DX-A8BQ-01A-11D-A37C-09	6206221	31868083	139246984	22	6726											
GFRAL	389400	genome.wustl.edu	37	chr6	55196591	55196591	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagagagcaatgcttacgtgAtgcaaatggatgtaaacatg	11	5	0	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:55196591A>T	ENST00000340465.2	+	2	187	c.101A>T	c.(100-102)gAt>gTt	p.D34V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	34					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCTTACGTGATGCAAATGGA	0.338																																																	0								ENSG00000187871						110	100	103					6																	55196591		2203	4300	6503	GFRAL	SO:0001583	missense	0			-	HGNC	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.101A>T	6.37:g.55196591A>T	ENSP00000343636:p.Asp34Val	Somatic	0	47	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q5VTF6	Missense_Mutation	SNP							pfam_GDNF/GAS1,smart_GDNF/GAS1	p.D34V	ENST00000340465.2	37	c.101	CCDS4957.1	6	.	.	.	.	.	.	.	.	.	.	A	5.804	0.332661	0.10956	.	.	ENSG00000187871	ENST00000340465	T	0.34859	1.34	4.92	2.29	0.28610	GDNF/GAS1 (1);	0.383886	0.24352	N	0.039269	T	0.11836	0.0288	L	0.45581	1.43	0.29685	N	0.841392	P	0.40660	0.726	B	0.33890	0.172	T	0.12091	-1.0561	10	0.87932	D	0	-19.806	4.6535	0.12606	0.7026:0.1945:0.1029:0.0	.	34	Q6UXV0	GFRAL_HUMAN	V	34	ENSP00000343636:D34V	ENSP00000343636:D34V	D	+	2	0	GFRAL	55304550	0.353000	0.24904	0.278000	0.24718	0.015000	0.08874	0.679000	0.25291	1.852000	0.53769	0.383000	0.25322	GAT	-	smart_GDNF/GAS1		0.338	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	protein_coding	OTTHUMT00000040995.2	A	NM_207410	-		55196591	1	no_errors	ENST00000340465	ensembl	human	known	74_37	missense	SNP	0.164	T	T	55196591	A	T	55196591	3	4	103	1	0	0	0	0	1	0	0	0	6353	333	12	5	107	5	GFRAL	6	55196591	Missense_Mutation	SNP	A	TCGA-DX-A8BQ-01A-11D-A37C-09	23328508	55196591	115918476	23	6727											
PHIP	55023	genome.wustl.edu	37	chr6	79752576	79752576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagtaaatatccgtctgCcagttcgatcaaaagttaca	6	9	2	0			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:79752576C>T	ENST00000275034.4	-	7	751	c.584G>A	c.(583-585)gGc>gAc	p.G195D		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	195					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)		TATCCGTCTGCCAGTTCGATC	0.343																																																	0								ENSG00000146247						119	115	116					6																	79752576		2203	4299	6502	PHIP	SO:0001583	missense	0			-	HGNC	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.584G>A	6.37:g.79752576C>T	ENSP00000275034:p.Gly195Asp	Somatic	0	44	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.G195D	ENST00000275034.4	37	c.584	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677943	0.88445	.	.	ENSG00000146247	ENST00000275034	T	0.25912	1.77	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.41328	0.1154	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13308	-1.0514	9	.	.	.	-7.373	17.8954	0.88886	0.0:1.0:0.0:0.0	.	195;195	A7J992;Q8WWQ0	.;PHIP_HUMAN	D	195	ENSP00000275034:G195D	.	G	-	2	0	PHIP	79809295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.421000	0.80204	2.465000	0.83290	0.655000	0.94253	GGC	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	C		-		79752576	-1	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79752576	C	T	79752576	3	4	103	1	0	0	0	0	1	0	0	0	11844	739	26	2	5017	2	PHIP	6	79752576	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	24555985	79752576	91362491	24	6728											
ABCA13	154664	genome.wustl.edu	37	chr7	48411945	48411945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattttgggatgtcagtcGtcatgctgagctacctcttg	12	8	3	1	rs374380327		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:48411945G>A	ENST00000435803.1	+	33	11008	c.10984G>A	c.(10984-10986)Gtc>Atc	p.V3662I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3662					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V3662I(1)|p.V3607I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGTCAGTCGTCATGCTGAG	0.458																																																	2	Substitution - Missense(2)	breast(2)						ENSG00000179869	G	ILE/VAL	0,4064		0,0,2032	285	277	279		10984	-0.8	0	7		279	1,8397		0,1,4198	no	missense	ABCA13	NM_152701.3	29	0,1,6230	AA,AG,GG		0.0119,0.0,0.0080	benign	3662/5059	48411945	1,12461	2032	4199	6231	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10984G>A	7.37:g.48411945G>A	ENSP00000411096:p.Val3662Ile	Somatic	0	35	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V3662I	ENST00000435803.1	37	c.10984	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	5.218	0.225737	0.09916	0.0	1.19E-4	ENSG00000179869	ENST00000435803	T	0.80738	-1.41	5.77	-0.831	0.10789	.	0.447820	0.18698	N	0.133673	T	0.52789	0.1756	N	0.04090	-0.28	0.32972	D	0.522435	B;B	0.28470	0.061;0.213	B;B	0.23018	0.019;0.043	T	0.53982	-0.8361	10	0.06757	T	0.87	.	11.6751	0.51425	0.6482:0.0:0.3518:0.0	.	1364;3662	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3662	ENSP00000411096:V3662I	ENSP00000411096:V3662I	V	+	1	0	ABCA13	48382491	0.001000	0.12720	0.008000	0.14137	0.971000	0.66376	-0.134000	0.10436	-0.381000	0.07882	0.655000	0.94253	GTC	-	NULL		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48411945	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.009	A	A	48411945	G	A	48411945	3	1	103	1	0	0	0	0	1	0	0	0	31	1145	40	1	10943	1	ABCA13	7	48411945	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		48411945	110726718	25	6729											
PCLO	27445	genome.wustl.edu	37	chr7	82578847	82578847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactttcgtctgctgttggaCtcagaggcttggggtcagac	13	9	3	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:82578847C>A	ENST00000333891.9	-	6	11394	c.11057G>T	c.(11056-11058)aGt>aTt	p.S3686I	PCLO_ENST00000437081.1_Missense_Mutation_p.S406I|PCLO_ENST00000423517.2_Missense_Mutation_p.S3686I	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						TGCTGTTGGACTCAGAGGCTT	0.473																																																	0								ENSG00000186472						203	197	199					7																	82578847		1930	4150	6080	PCLO	SO:0001583	missense	0			-	HGNC	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.11057G>T	7.37:g.82578847C>A	ENSP00000334319:p.Ser3686Ile	Somatic	0	34	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	8	63.64		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S3686I	ENST00000333891.9	37	c.11057	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.233782	0.95207	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.52057	0.68;0.7	5.92	5.92	0.95590	.	.	.	.	.	T	0.71517	0.3349	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.72646	-0.4230	9	0.87932	D	0	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	3617;3686;3686	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	3617;3686;3686;406	ENSP00000334319:S3686I;ENSP00000388393:S3686I	ENSP00000334319:S3686I	S	-	2	0	PCLO	82416783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.801000	0.96364	0.650000	0.86243	AGT	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82578847	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82578847	C	A	82578847	3	1	103	1	0	0	0	0	1	0	0	0	11585	565	20	3	4468	3	PCLO	7	82578847	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	34166902	82578847	76559816	26	6730											
UBE3C	9690	genome.wustl.edu	37	chr7	157013394	157013394	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccccgacaggtcactcagctCtatgtgccagcatccagaca	8	16	3	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:157013394C>G	ENST00000348165.5	+	15	2286	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	642					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCACTCAGCTCTATGTGCCAG	0.562																																																	0								ENSG00000009335						113	90	98					7																	157013394		2203	4300	6503	UBE3C	SO:0001819	synonymous_variant	0			-	HGNC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1926C>G	7.37:g.157013394C>G		Somatic	0	41	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP							pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.L642	ENST00000348165.5	37	c.1926	CCDS34789.1	7																																																																																			-	NULL		0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	protein_coding	OTTHUMT00000348108.1	C	NM_014671	-		157013394	1	no_errors	ENST00000348165	ensembl	human	known	74_37	silent	SNP	0.970	G	G	157013394	C	G	157013394	2	3	103	1	0	0	0	0	0	0	0	1	16888	900	32	4		4	UBE3C	7	157013394	Silent	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	74434547	157013394	2125269	27	6731											
ZNF704	619279	genome.wustl.edu	37	chr8	81577288	81577288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtagtaaaagtcctcttctCcatcactgtagtcagagtct	7	10	5	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr8:81577288C>A	ENST00000327835.3	-	6	920	c.689G>T	c.(688-690)gGa>gTa	p.G230V	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	230							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GTCCTCTTCTCCATCACTGTA	0.493																																																	0								ENSG00000164684						100	88	92					8																	81577288		2203	4300	6503	ZNF704	SO:0001583	missense	0			-	HGNC	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.689G>T	8.37:g.81577288C>A	ENSP00000331462:p.Gly230Val	Somatic	0	48	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B2RNE6|B9EGW6	Missense_Mutation	SNP							pfscan_Znf_C2H2	p.G230V	ENST00000327835.3	37	c.689	CCDS34913.1	8	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038405	0.93630	.	.	ENSG00000164684	ENST00000327835	D	0.82893	-1.66	6.07	6.07	0.98685	.	0.045029	0.85682	D	0.000000	D	0.91277	0.7250	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90583	0.4531	10	0.62326	D	0.03	-15.8596	20.6439	0.99570	0.0:1.0:0.0:0.0	.	230	Q6ZNC4	ZN704_HUMAN	V	230	ENSP00000331462:G230V	ENSP00000331462:G230V	G	-	2	0	ZNF704	81739843	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GGA	-	NULL		0.493	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	protein_coding	OTTHUMT00000379964.2	C	NM_001033723	-		81577288	-1	no_errors	ENST00000327835	ensembl	human	known	74_37	missense	SNP	1.000	A	A	81577288	C	A	81577288	3	1	103	1	0	0	0	0	1	0	0	0	18114	855	30	3	565	3	ZNF704	8	81577288	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		81577288	64786734	28	6732											
ESRP1	54845	genome.wustl.edu	37	chr8	95680252	95680252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgggggctccctttcaCggccacagctgaagaagtgg	14	12	1	2	rs577759452		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr8:95680252C>T	ENST00000433389.2	+	10	1197	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	ESRP1_ENST00000423620.2_Missense_Mutation_p.T336M|ESRP1_ENST00000358397.5_Missense_Mutation_p.T336M|ESRP1_ENST00000454170.2_Missense_Mutation_p.T336M	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTCCCTTTCACGGCCACAGCT	0.507																																																	0								ENSG00000104413						69	69	69					8																	95680252		1908	4106	6014	ESRP1	SO:0001583	missense	0			-	HGNC	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1007C>T	8.37:g.95680252C>T	ENSP00000405738:p.Thr336Met	Somatic	0	26	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP							superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.T336M	ENST00000433389.2	37	c.1007	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982133	0.74474	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.091853	0.85682	D	0.000000	T	0.39708	0.1088	M	0.88775	2.98	0.43250	D	0.995171	D;D;D;D;D;D	0.89917	1.0;0.998;0.985;0.994;0.996;0.999	D;D;P;D;P;D	0.79784	0.993;0.962;0.865;0.917;0.865;0.978	T	0.36866	-0.9730	10	0.87932	D	0	-11.1758	14.6968	0.69129	0.1795:0.8205:0.0:0.0	.	336;336;336;336;336;336	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	M	336;336;336;336;195	ENSP00000407349:T336M;ENSP00000405738:T336M;ENSP00000351168:T336M;ENSP00000402766:T336M;ENSP00000429125:T195M	ENSP00000351168:T336M	T	+	2	0	ESRP1	95749428	0.981000	0.34729	0.962000	0.40283	0.994000	0.84299	2.650000	0.46665	2.724000	0.93272	0.563000	0.77884	ACG	-	smart_RRM_dom,pfscan_RRM_dom		0.507	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	protein_coding	OTTHUMT00000379326.1	C	NM_017697	-		95680252	1	no_errors	ENST00000433389	ensembl	human	known	74_37	missense	SNP	0.995	T	T	95680252	C	T	95680252	3	4	103	1	0	0	0	0	1	0	0	0	5260	536	19	1	1045	1	ESRP1	8	95680252	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	14102964	95680252	50683770	29	6733											
FLJ46321	389763	genome.wustl.edu	37	chr9	84606727	84606727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttaggccaaactaccaaCtaaattcctcacggaatatg	5	11	1	0	rs181562191		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr9:84606727C>A	ENST00000344803.2	+	4	1389	c.1342C>A	c.(1342-1344)Cta>Ata	p.L448I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	448					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAACTACCAACTAAATTCCTC	0.413																																																	0								ENSG00000214929						91	84	86					9																	84606727		1904	4115	6019	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1342C>A	9.37:g.84606727C>A	ENSP00000341988:p.Leu448Ile	Somatic	0	75	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	62	22.50		Missense_Mutation	SNP							NULL	p.L448I	ENST00000344803.2	37	c.1342	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395899	0.25205	.	.	ENSG00000214929	ENST00000344803	T	0.09445	2.98	2.74	-2.03	0.07365	.	2.418860	0.02009	N	0.046859	T	0.27169	0.0666	M	0.72894	2.215	0.09310	N	1	D	0.58970	0.984	D	0.66084	0.941	T	0.23440	-1.0188	10	0.45353	T	0.12	-0.1954	4.4099	0.11427	0.5664:0.3079:0.0:0.1257	.	448	Q6ZQQ2	F75D1_HUMAN	I	448	ENSP00000341988:L448I	ENSP00000341988:L448I	L	+	1	2	FAM75D1	83796547	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.365000	0.07573	-0.442000	0.07190	0.558000	0.71614	CTA	-	NULL		0.413	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	C	NM_001001670	-		84606727	1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.000	A	A	84606727	C	A	84606727	3	1	103	1	0	0	0	0	1	0	0	0	5934	564	20	3	1356	3	FLJ46321	9	84606727	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		84606727	56606704	30	6734											
PPYR1	5540	genome.wustl.edu	37	chr10	47087160	47087160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagtgcatgtcggtgaCggtctccatcctctcgctcg	10	15	2	1	rs149694580	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:47087160C>T	ENST00000395716.1	+	2	462	c.377C>T	c.(376-378)aCg>aTg	p.T126M	NPY4R_ENST00000374312.1_Missense_Mutation_p.T126M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	126					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										ATGTCGGTGACGGTCTCCATC	0.597													C|||	2	0.000399361	8e-04	0	5008	,	,		42575	0.001		0	False		,,,				2504	0																0								ENSG00000204174	C	MET/THR	3,4403	9.9+/-24.2	0,3,2200	298	268	278		377	4.9	1	10	dbSNP_134	278	6,8594	4.3+/-15.6	0,6,4294	yes	missense	PPYR1	NM_005972.4	81	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	probably-damaging	126/376	47087160	9,12997	2203	4300	6503	NPY4R	SO:0001583	missense	0			-	HGNC		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.377C>T	10.37:g.47087160C>T	ENSP00000379066:p.Thr126Met	Somatic	0	57	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T126M	ENST00000395716.1	37	c.377	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457915	0.43634	6.81E-4	6.98E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.74421	-0.84;-0.84	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.054567	0.64402	D	0.000001	D	0.84768	0.5545	M	0.66560	2.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.86474	0.1787	10	0.87932	D	0	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	126	P50391	NPY4R_HUMAN	M	126	ENSP00000363431:T126M;ENSP00000379066:T126M	ENSP00000363431:T126M	T	+	2	0	PPYR1	46507166	0.998000	0.40836	0.960000	0.40013	0.074000	0.17049	3.778000	0.55371	2.464000	0.83262	0.609000	0.83330	ACG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	protein_coding	OTTHUMT00000047837.1	C		rs149694580		47087160	1	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	SNP	0.997	T	T	47087160	C	T	47087160	3	4	103	1	0	0	0	0	1	0	0	0	12421	536	19	1	379	1	PPYR1	10	47087160	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		47087160	88447587	31	6735											
TNKS2	80351	genome.wustl.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A													tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa							TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)						ENSG00000107854																																			TNKS2	SO:0001589	frameshift_variant	0				HGNC	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs	Somatic	0	50	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS							pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	protein_coding	OTTHUMT00000049374.1	-	NM_025235			93601946	1	no_errors	ENST00000371627	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.997	A	A	93601946	-	A	93601945	7	5	103	1	0	1	1	0	0	0	0	0	16328	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-DX-A8BQ-01A-11D-A37C-09	46514785	93601945	41932802	32	6736											
COL17A1	1308	genome.wustl.edu	37	chr10	105830313	105830313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgagcaaacgcttaacatCatccaattctgtccctgtga	6	12	2	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:105830313C>T	ENST00000353479.5	-	9	768	c.478G>A	c.(478-480)Gat>Aat	p.D160N	COL17A1_ENST00000393211.3_Missense_Mutation_p.D160N|COL17A1_ENST00000369733.3_Missense_Mutation_p.D160N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	160	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGCTTAACATCATCCAATTCT	0.517																																																	0								ENSG00000065618						137	129	132					10																	105830313		2203	4300	6503	COL17A1	SO:0001583	missense	0			-	HGNC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.478G>A	10.37:g.105830313C>T	ENSP00000340937:p.Asp160Asn	Somatic	0	39	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP							pfam_Collagen	p.D160N	ENST00000353479.5	37	c.478	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666123	0.88251	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.07688	3.17;3.17;3.17	5.92	5.92	0.95590	.	0.287836	0.24091	N	0.041623	T	0.24160	0.0585	M	0.68952	2.095	0.58432	D	0.999999	D;P;D	0.59357	0.985;0.825;0.974	P;P;P	0.54270	0.747;0.484;0.563	T	0.00047	-1.2209	10	0.87932	D	0	-5.9864	19.9157	0.97061	0.0:1.0:0.0:0.0	.	160;160;160	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	N	160;160;144;160	ENSP00000340937:D160N;ENSP00000358748:D160N;ENSP00000376905:D160N	ENSP00000340937:D160N	D	-	1	0	COL17A1	105820303	1.000000	0.71417	0.993000	0.49108	0.871000	0.50021	6.808000	0.75206	2.813000	0.96785	0.561000	0.74099	GAT	-	NULL		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494	-		105830313	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105830313	C	T	105830313	3	4	103	1	0	0	0	0	1	0	0	0	3676	826	29	2	4207	2	COL17A1	10	105830313	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	12228368	105830313	29704434	33	6737											
SORCS3	22986	genome.wustl.edu	37	chr10	106974338	106974338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctggtggcagagcagggGcacaatgcaactttcatcat	13	10	2	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:106974338G>A	ENST00000369701.3	+	18	2741	c.2514G>A	c.(2512-2514)ggG>ggA	p.G838G	SORCS3_ENST00000369699.4_Silent_p.G124G	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	838	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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)		CAGAGCAGGGGCACAATGCAA	0.577																																					NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						50	44	46					10																	106974338		2203	4300	6503	SORCS3	SO:0001819	synonymous_variant	0			-	HGNC	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.2514G>A	10.37:g.106974338G>A		Somatic	0	31	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q5VXF9|Q9NQJ2	Silent	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G838	ENST00000369701.3	37	c.2514	CCDS7558.1	10																																																																																			-	pfam_PKD_dom,superfamily_PKD_dom		0.577	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	G	NM_014978	-		106974338	1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	SNP	0.914	A	A	106974338	G	A	106974338	2	1	103	1	0	0	0	0	0	0	0	1	14940	1190	42	2		2	SORCS3	10	106974338	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	1144025	106974338	28560409	34	6738											
CUZD1	50624	genome.wustl.edu	37	chr10	124594289	124594289	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaggctctacaggtatcaaGaaacaccaccaaatttggat	8	9	2	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:124594289G>T	ENST00000368904.1	-	9	2264	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I	CUZD1_ENST00000392790.1_Missense_Mutation_p.L439I|CUZD1_ENST00000545804.1_Missense_Mutation_p.L439I					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGGTATCAAGAAACACCACC	0.383																																																	0								ENSG00000138161						63	63	63					10																	124594289		2203	4300	6503	CUZD1	SO:0001583	missense	0			-	HGNC	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1315C>A	10.37:g.124594289G>T	ENSP00000357900:p.Leu439Ile	Somatic	0	43	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Missense_Mutation	SNP							pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom	p.L439I	ENST00000368904.1	37	c.1315	CCDS7631.1	10	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900697	0.33535	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.83992	-1.79;-1.79;-1.79	5.03	4.09	0.47781	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.222293	0.38272	N	0.001751	T	0.79106	0.4390	L	0.49350	1.555	0.23712	N	0.99704	B	0.33171	0.4	B	0.40534	0.332	T	0.67868	-0.5559	10	0.30078	T	0.28	-14.3072	8.6002	0.33740	0.0:0.2409:0.5218:0.2373	.	439	Q86UP6	CUZD1_HUMAN	I	439;158;158;73;158;439;439	ENSP00000357900:L439I;ENSP00000441590:L439I;ENSP00000376540:L439I	ENSP00000340905:L73I	L	-	1	0	CUZD1	124584279	0.008000	0.16893	0.962000	0.40283	0.838000	0.47535	-0.091000	0.11146	2.353000	0.79882	0.460000	0.39030	CTT	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.383	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	protein_coding	OTTHUMT00000050829.2	G	NM_022034	-		124594289	-1	no_errors	ENST00000368904	ensembl	human	known	74_37	missense	SNP	0.730	T	T	124594289	G	T	124594289	3	4	103	1	0	0	0	0	1	0	0	0	4068	942	33	3	520	3	CUZD1	10	124594289	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	17619951	124594289	10940458	35	6739											
GALNTL4	374378	genome.wustl.edu	37	chr11	11348716	11348716	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagacacaaatcagtcttcaGagaattctgcagctgaacat	7	9	4	3			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:11348716G>T	ENST00000227756.4	-	9	1840	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	477	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)										TCAGTCTTCAGAGAATTCTGC	0.468																																																	0								ENSG00000110328						97	87	90					11																	11348716		2201	4294	6495	GALNT18	SO:0001583	missense	0			-	HGNC	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.1429C>A	11.37:g.11348716G>T	ENSP00000227756:p.Leu477Met	Somatic	0	42	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	O95903|Q8NDY9	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L477M	ENST00000227756.4	37	c.1429	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877541	0.51801	.	.	ENSG00000110328	ENST00000227756	T	0.26810	1.71	5.62	4.71	0.59529	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000015	T	0.43567	0.1253	M	0.73217	2.22	0.42249	D	0.991967	D	0.76494	0.999	D	0.75020	0.985	T	0.36890	-0.9729	10	0.34782	T	0.22	.	6.4474	0.21883	0.1602:0.1507:0.6891:0.0	.	477	Q6P9A2	GLTL4_HUMAN	M	477	ENSP00000227756:L477M	ENSP00000227756:L477M	L	-	1	2	GALNTL4	11305292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.909000	0.39917	1.367000	0.46095	0.563000	0.77884	CTG	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.468	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	protein_coding	OTTHUMT00000385848.1	G	NM_198516	-		11348716	-1	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11348716	G	T	11348716	3	4	103	1	0	0	0	0	1	0	0	0	6225	933	33	3	406	3	GALNTL4	11	11348716	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		11348716	123657800	36	6740											
PATL1	219988	genome.wustl.edu	37	chr11	59423447	59423447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgctcctccaagaagCtgtgctctctggagggggct	13	12	1	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:59423447C>A	ENST00000300146.9	-	7	879	c.795G>T	c.(793-795)caG>caT	p.Q265H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	265	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCCAAGAAGCTGTGCTCTCT	0.433																																																	0								ENSG00000166889						13	13	13					11																	59423447		1833	4072	5905	PATL1	SO:0001583	missense	0			-	HGNC	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.795G>T	11.37:g.59423447C>A	ENSP00000300146:p.Gln265His	Somatic	0	38	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP							pfam_Topo_II-assoc_PAT1	p.Q265H	ENST00000300146.9	37	c.795	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428889	0.25726	.	.	ENSG00000166889	ENST00000300146	T	0.49720	0.77	4.91	3.02	0.34903	.	0.122371	0.56097	D	0.000029	T	0.57519	0.2059	L	0.52573	1.65	0.50813	D	0.999898	D	0.67145	0.996	D	0.79108	0.992	T	0.53229	-0.8468	10	0.33940	T	0.23	-2.1304	9.8957	0.41318	0.0:0.8315:0.0:0.1685	.	265	Q86TB9	PATL1_HUMAN	H	265	ENSP00000300146:Q265H	ENSP00000300146:Q265H	Q	-	3	2	PATL1	59180023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.733000	0.47360	1.044000	0.40200	0.655000	0.94253	CAG	-	pfam_Topo_II-assoc_PAT1		0.433	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	protein_coding	OTTHUMT00000394559.1	C	NM_152716	-		59423447	-1	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59423447	C	A	59423447	3	1	103	1	0	0	0	0	1	0	0	0	11477	796	28	3	1569	3	PATL1	11	59423447	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	48074731	59423447	75583069	37	6741											
CAPN1	823	genome.wustl.edu	37	chr11	64972271	64972271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccttatgcagaagcaccGtcgccgcgagcgccgcttcg	12	17	0	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:64972271G>A	ENST00000527323.1	+	10	1523	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	CAPN1_ENST00000279247.6_Missense_Mutation_p.R428H|CAPN1_ENST00000533129.1_Missense_Mutation_p.R428H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R428H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R428H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	428	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAGAAGCACCGTCGCCGCGAG	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000014216						41	49	47					11																	64972271		2063	4187	6250	CAPN1	SO:0001583	missense	0			-	HGNC	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1283G>A	11.37:g.64972271G>A	ENSP00000431984:p.Arg428His	Somatic	0	35	0	1080	0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q2TTR0|Q6DHV4	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R428H	ENST00000527323.1	37	c.1283	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.071192	0.93950	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.51	3.59	0.41128	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.060868	0.64402	D	0.000003	D	0.93226	0.7842	M	0.88570	2.965	0.80722	D	1	D	0.69078	0.997	P	0.61592	0.891	D	0.92525	0.6028	10	0.87932	D	0	.	7.1029	0.25348	0.208:0.0:0.792:0.0	.	428	P07384	CAN1_HUMAN	H	428;428;428;428;374;428	ENSP00000435272:R428H;ENSP00000431686:R428H;ENSP00000434176:R428H;ENSP00000279247:R428H;ENSP00000431984:R428H	ENSP00000259755:R374H	R	+	2	0	CAPN1	64728847	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.694000	0.74587	1.022000	0.39626	0.563000	0.77884	CGT	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	protein_coding	OTTHUMT00000385325.1	G		-		64972271	1	no_errors	ENST00000279247	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64972271	G	A	64972271	3	1	103	1	0	0	0	0	1	0	0	0	2624	1145	40	1	1321	1	CAPN1	11	64972271	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	5548824	64972271	70034245	38	6742											
NADSYN1	55191	genome.wustl.edu	37	chr11	71194034	71194034	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggagacgtgcacccgGgccagagagttggcccagca	14	14	0	2	rs368772709		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:71194034G>T	ENST00000319023.2	+	14	1478	c.1290G>T	c.(1288-1290)cgG>cgT	p.R430R	NADSYN1_ENST00000530055.1_Silent_p.R59R|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Silent_p.R170R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase. {ECO:0000250}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CGTGCACCCGGGCCAGAGAGT	0.602																																					Ovarian(79;763 1781 6490 50276)												0								ENSG00000172890	G		1,4399	2.1+/-5.4	0,1,2199	92	84	87		1290	-1.5	0.1	11		87	0,8588		0,0,4294	no	coding-synonymous	NADSYN1	NM_018161.4		0,1,6493	TT,TG,GG		0.0,0.0227,0.0077		430/707	71194034	1,12987	2200	4294	6494	NADSYN1	SO:0001819	synonymous_variant	0			-	HGNC	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1290G>T	11.37:g.71194034G>T		Somatic	0	26	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP							pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.R430	ENST00000319023.2	37	c.1290	CCDS8201.1	11																																																																																			-	pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase		0.602	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	protein_coding	OTTHUMT00000394356.1	G	NM_018161	-		71194034	1	no_errors	ENST00000319023	ensembl	human	known	74_37	silent	SNP	0.981	T	T	71194034	G	T	71194034	2	4	103	1	0	0	0	0	0	0	0	1	10140	1219	43	3		3	NADSYN1	11	71194034	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	6221763	71194034	63812482	39	6743											
SYTL2	54843	genome.wustl.edu	37	chr11	85436022	85436022	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcaaatgagctaagcGtctggtctgatggagacatt	13	6	2	3	rs201893430		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:85436022G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.T1017M|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.T493M|SYTL2_ENST00000525423.1_Missense_Mutation_p.T493M	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGAGCTAAGCGTCTGGTCTGA	0.423																																																	0								ENSG00000137501	G	,,,MET/THR,MET/THR	0,4406		0,0,2203	100	95	97		,,,1478,1478	-3	0	11		97	2,8596	2.2+/-6.3	0,2,4297	yes	intron,intron,intron,missense,missense	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,,,probably-damaging,probably-damaging	,,,493/1273,493/1257	85436022	2,13002	2203	4299	6502	SYTL2	SO:0001627	intron_variant	0			-	HGNC	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2916C>T	11.37:g.85436022G>A		Somatic	0	37	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T1017M	ENST00000528231.1	37	c.3050	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	5.307	0.242038	0.10077	0.0	2.33E-4	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26810	1.71;1.72;1.72	5.65	-2.96	0.05547	.	1.095400	0.06913	N	0.807946	T	0.18964	0.0455	L	0.27053	0.805	0.09310	N	1	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.48952	0.596;0.596;0.596	T	0.10019	-1.0648	9	.	.	.	5.6332	2.5496	0.04745	0.2083:0.362:0.3156:0.1141	.	493;493;493	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	M	1017;493;493	ENSP00000352065:T1017M;ENSP00000346576:T493M;ENSP00000432694:T493M	.	T	-	2	0	SYTL2	85113670	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.824000	0.04438	-0.776000	0.04578	0.655000	0.94253	ACG	-	NULL		0.423	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	protein_coding	OTTHUMT00000392192.1	G	NM_206927	rs201893430		85436022	-1	no_errors	ENST00000359152	ensembl	human	known	74_37	missense	SNP	0.000	A	A	85436022	G	A	85436022	1	1	103	0	1	0	0	0	0	0	0	0	15490	1145	40	1		1	SYTL2	11	85436022	Intron	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	14241988	85436022	49570494	40	6744											
GDF3	9573	genome.wustl.edu	37	chr12	7843124	7843124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgaggctcctgaaccaGgaacagagccagttccagct	10	13	0	3			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:7843124G>A	ENST00000329913.3	-	2	492	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	149					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTGAACCAGGAACAGAGCC	0.537																																																	0								ENSG00000184344						55	58	57					12																	7843124		2203	4300	6503	GDF3	SO:0001819	synonymous_variant	0			-	HGNC	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.445C>T	12.37:g.7843124G>A		Somatic	0	27	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q8NEJ4	Silent	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.L149	ENST00000329913.3	37	c.445	CCDS8581.1	12																																																																																			-	pfam_TGF-b_N		0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	protein_coding	OTTHUMT00000399717.1	G		-		7843124	-1	no_errors	ENST00000329913	ensembl	human	known	74_37	silent	SNP	0.850	A	A	7843124	G	A	7843124	2	1	103	1	0	0	0	0	0	0	0	1	6317	991	35	2		2	GDF3	12	7843124	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		7843124	126008771	41	6745											
C12orf44	60673	genome.wustl.edu	37	chr12	52467507	52467507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccatgctggctgtgCtgcacacggtgcttctgcac	14	12	1	0			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:52467507C>T	ENST00000336854.4	+	3	551	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		25					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GCTGGCTGTGCTGCACACGGT	0.617																																																	0								ENSG00000123395						115	94	101					12																	52467507		2203	4300	6503	C12orf44	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000336854.4:c.73C>T	12.37:g.52467507C>T		Somatic	0	21	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q9HAE2|Q9HBN1	Silent	SNP							pfam_ATG101	p.L25	ENST00000336854.4	37	c.73	CCDS8820.1	12																																																																																			-	pfam_ATG101		0.617	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	protein_coding	OTTHUMT00000405063.1	C		-		52467507	1	no_errors	ENST00000336854	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52467507	C	T	52467507	2	4	103	1	0	0	0	0	0	0	0	1	1692	796	28	2		2	C12orf44	12	52467507	Silent	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	44624383	52467507	81384388	42	6746											
NT5DC3	51559	genome.wustl.edu	37	chr12	104181307	104181307	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcatataaattacccTgtaatcagagaaaactatag	4	6	2	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:104181307T>G	ENST00000392876.3	-	11	1142		c.e11-2			NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3							cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TAAATTACCCTGTAATCAGAG	0.333																																																	0								ENSG00000111696						53	56	55					12																	104181307		2203	4300	6503	NT5DC3	SO:0001630	splice_region_variant	0			-	HGNC	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1102-2A>C	12.37:g.104181307T>G		Somatic	0	12	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	Q9NUM7|Q9P2T2|Q9P2T3	Splice_Site	SNP							-	e11-2	ENST00000392876.3	37	c.1102-2	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206828	0.58343	.	.	ENSG00000111696	ENST00000392876	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8089	0.78538	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NT5DC3	102705437	1.000000	0.71417	0.972000	0.41901	0.664000	0.39144	7.415000	0.80131	2.131000	0.65755	0.533000	0.62120	.	-	-		0.333	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	protein_coding	OTTHUMT00000347118.2	T	NM_016575	-	Intron	104181307	-1	no_errors	ENST00000392876	ensembl	human	known	74_37	splice_site	SNP	0.999	G	G	104181307	T	G	104181307	5	3	103	1	0	0	0	0	0	0	1	0	10694	1594	55	5	562	5	NT5DC3	12	104181307	Splice_Site	SNP	T	TCGA-DX-A8BQ-01A-11D-A37C-09	51713800	104181307	29670588	43	6747											
WDR66	144406	genome.wustl.edu	37	chr12	122359385	122359385	+	Frame_Shift_Del	DEL	C	C	-													gaggaggagaggaaaacgggCgaggaggaaggggaggagga					rs370060195		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:122359385delC	ENST00000288912.4	+	2	1028	c.174delC	c.(172-174)ggcfs	p.G58fs	WDR66_ENST00000397454.2_Frame_Shift_Del_p.G58fs	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)												0								ENSG00000158023						44	45	45					12																	122359385		1915	4116	6031	WDR66	SO:0001589	frameshift_variant	0				HGNC	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.174delC	12.37:g.122359385delC	ENSP00000288912:p.Gly58fs	Somatic	0	23	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E59fs	ENST00000288912.4	37	c.174	CCDS41853.1	12																																																																																			-	NULL		0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	protein_coding	OTTHUMT00000401700.1	C	NM_144668			122359385	1	no_errors	ENST00000288912	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	122359385	C	-	122359385	7	5	103	1	0	1	0	1	0	0	0	0	17324	755	27	0	176	0	WDR66	12	122359385	Frame_Shift_Del	DEL	C	TCGA-DX-A8BQ-01A-11D-A37C-09	18178078	122359385	11492510	44	6748											
AKAP11	11215	genome.wustl.edu	37	chr13	42873842	42873843	+	Frame_Shift_Del	DEL	GG	GG	-													ccaagtcctgttattttcttGgatgaagagggatatcaaaa							TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr13:42873842_42873843delGG	ENST00000025301.2	+	8	1135_1136	c.960_961delGG	c.(958-963)ttggatfs	p.D321fs		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	321					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTATTTTCTTGGATGAAGAGGG	0.351																																																	0								ENSG00000023516																																			AKAP11	SO:0001589	frameshift_variant	0				HGNC	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.960_961delGG	13.37:g.42873842_42873843delGG	ENSP00000025301:p.Asp321fs	Somatic	0	17	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	O75124|Q9NUK7	Frame_Shift_Del	DEL							NULL	p.D321fs	ENST00000025301.2	37	c.960_961	CCDS9383.1	13																																																																																			-	NULL		0.351	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	protein_coding	OTTHUMT00000044700.2	GG	NM_016248			42873843	1	no_errors	ENST00000025301	ensembl	human	known	74_37	frame_shift_del	DEL	0.995:1.000	-	-	42873843	GG	-	42873842	7	5	103	1	0	1	0	1	0	0	0	0	447	1339	47	0	982	0	AKAP11	13	42873842	Frame_Shift_Del	DEL	GG	TCGA-DX-A8BQ-01A-11D-A37C-09		42873842	72296036	45	6749											
DCAF11	80344	genome.wustl.edu	37	chr14	24587326	24587326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctttctgtggcatctAcagcaaagatggtcaaatat	10	7	3	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr14:24587326A>G	ENST00000446197.3	+	6	1266	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	DCAF11_ENST00000396936.1_Missense_Mutation_p.Y80C|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000559115.1_Missense_Mutation_p.Y180C|DCAF11_ENST00000396941.4_Missense_Mutation_p.Y154C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	180					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGTGGCATCTACAGCAAAGAT	0.488																																																	0								ENSG00000100897						189	183	185					14																	24587326		2203	4300	6503	DCAF11	SO:0001583	missense	0			-	HGNC	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.539A>G	14.37:g.24587326A>G	ENSP00000415556:p.Tyr180Cys	Somatic	0	38	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y180C	ENST00000446197.3	37	c.539	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	a	18.07	3.541364	0.65085	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.45276	4.96;0.9	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	0.64238	0.2580	M	0.73962	2.25	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.991;0.986;0.987;0.98	T	0.68164	-0.5481	10	0.87932	D	0	-19.6335	13.6097	0.62071	1.0:0.0:0.0:0.0	.	103;154;80;180;180	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	C	180;154;80;154	ENSP00000380142:Y80C;ENSP00000380146:Y154C	ENSP00000323680:Y180C	Y	+	2	0	DCAF11	23657166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.853000	0.86934	2.308000	0.77769	0.533000	0.62120	TAC	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	protein_coding	OTTHUMT00000071907.4	A		-		24587326	1	no_errors	ENST00000446197	ensembl	human	known	74_37	missense	SNP	1.000	G	G	24587326	A	G	24587326	3	3	103	1	0	0	0	0	1	0	0	0	4264	391	14	5	557	5	DCAF11	14	24587326	Missense_Mutation	SNP	A	TCGA-DX-A8BQ-01A-11D-A37C-09		24587326	82762214	46	6750											
AHNAK2	113146	genome.wustl.edu	37	chr14	105419754	105419754	+	Frame_Shift_Del	DEL	G	G	-													aacaatggcatcttgaacttGggcattttgaacttgctgtc							TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr14:105419754delG	ENST00000333244.5	-	7	2153	c.2034delC	c.(2032-2034)cccfs	p.P678fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	678						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAACTTGGGCATTTTGA	0.498																																																	0								ENSG00000185567						183	194	191					14																	105419754		1931	4117	6048	AHNAK2	SO:0001589	frameshift_variant	0				HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2034delC	14.37:g.105419754delG	ENSP00000353114:p.Pro678fs	Somatic	0	106	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	83	14.43	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K679fs	ENST00000333244.5	37	c.2034	CCDS45177.1	14																																																																																			-	NULL		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	G	NM_138420			105419754	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	frame_shift_del	DEL	0.215	-	-	105419754	G	-	105419754	7	5	103	1	0	1	0	1	0	0	0	0	415	1335	47	0	15357	0	AHNAK2	14	105419754	Frame_Shift_Del	DEL	G	TCGA-DX-A8BQ-01A-11D-A37C-09	80832428	105419754	1929786	47	6751											
MGA	23269	genome.wustl.edu	37	chr15	41989180	41989180	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagatgtgaagcctgatctgGaagatgtggatggtgttctc	14	6	2	4			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr15:41989180G>T	ENST00000570161.1	+	2	1972	c.1972G>T	c.(1972-1974)Gaa>Taa	p.E658*	MGA_ENST00000545763.1_Nonsense_Mutation_p.E658*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E658*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E658*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E658*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				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)	GCCTGATCTGGAAGATGTGGA	0.388																																																	0								ENSG00000174197						17	15	16					15																	41989180		1844	4025	5869	MGA	SO:0001587	stop_gained	0			-	HGNC	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.1972G>T	15.37:g.41989180G>T	ENSP00000457035:p.Glu658*	Somatic	0	49	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP							pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E658*	ENST00000570161.1	37	c.1972	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	38	6.891765	0.97916	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.21	5.21	0.72293	.	1.845040	0.01992	N	0.045562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7687	0.91882	0.0:0.0:1.0:0.0	.	.	.	.	X	658	.	ENSP00000219905:E658X	E	+	1	0	MGA	39776472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.159000	0.77483	2.441000	0.82636	0.462000	0.41574	GAA	-	NULL		0.388	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1	-		41989180	1	no_errors	ENST00000219905	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	41989180	G	T	41989180	4	4	103	1	0	0	0	0	0	1	0	0	9542	1175	41	3	1978	3	MGA	15	41989180	Nonsense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		41989180	60542212	48	6752											
ANPEP	290	genome.wustl.edu	37	chr15	90348420	90348420	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcagtgacattccagttGgggtcttctggaagtggggt	14	7	3	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr15:90348420G>T	ENST00000300060.6	-	4	1099	c.786C>A	c.(784-786)ccC>ccA	p.P262P	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	262	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CATTCCAGTTGGGGTCTTCTG	0.602																																					NSCLC(30;827 977 2459 19669 26125)												0								ENSG00000166825						318	283	295					15																	90348420		2200	4299	6499	ANPEP	SO:0001819	synonymous_variant	0			-	HGNC	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.786C>A	15.37:g.90348420G>T		Somatic	0	76	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	63	12.16	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P262	ENST00000300060.6	37	c.786	CCDS10356.1	15																																																																																			-	pfam_Peptidase_M1_N		0.602	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	protein_coding	OTTHUMT00000313425.1	G		-		90348420	-1	no_errors	ENST00000300060	ensembl	human	known	74_37	silent	SNP	0.000	T	T	90348420	G	T	90348420	2	4	103	1	0	0	0	0	0	0	0	1	710	1335	47	3		3	ANPEP	15	90348420	Silent	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	48359240	90348420	12182972	49	6753											
CHST4	10164	genome.wustl.edu	37	chr16	71570964	71570964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctctttcagtgggagaaCagccgggccctgtgttctgc	13	12	3	1	rs546100789		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr16:71570964C>A	ENST00000338482.5	+	3	727	c.384C>A	c.(382-384)aaC>aaA	p.N128K	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.N128K|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.N128K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	128					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGTGGGAGAACAGCCGGGCCC	0.577																																																	0								ENSG00000140835						57	62	60					16																	71570964		2198	4300	6498	CHST4	SO:0001583	missense	0			-	HGNC	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.384C>A	16.37:g.71570964C>A	ENSP00000341206:p.Asn128Lys	Somatic	0	43	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q8IV46|Q9Y5R3	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.N128K	ENST00000338482.5	37	c.384	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075444	0.08485	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.95949	-3.86;-3.86	5.8	-0.49	0.12049	Sulfotransferase domain (1);	2.405250	0.01317	N	0.010808	D	0.86760	0.6010	N	0.08118	0	0.21782	N	0.999546	B	0.09022	0.002	B	0.18263	0.021	T	0.81616	-0.0852	10	0.07325	T	0.83	-2.0112	3.6431	0.08174	0.3302:0.3725:0.2189:0.0784	.	128	Q8NCG5	CHST4_HUMAN	K	128	ENSP00000341206:N128K;ENSP00000441204:N128K	ENSP00000341206:N128K	N	+	3	2	CHST4	70128465	0.009000	0.17119	0.133000	0.22050	0.332000	0.28634	0.258000	0.18387	0.042000	0.15717	0.655000	0.94253	AAC	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.577	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	protein_coding	OTTHUMT00000268992.4	C	NM_005769	-		71570964	1	no_errors	ENST00000338482	ensembl	human	known	74_37	missense	SNP	0.130	A	A	71570964	C	A	71570964	3	1	103	1	0	0	0	0	1	0	0	0	3408	477	17	3	386	3	CHST4	16	71570964	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		71570964	18783789	50	6754											
ZNF232	7775	genome.wustl.edu	37	chr17	5009410	5009410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtatgaattctctgatgCtgaccgaggtttgagctctg	11	9	2	4			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:5009410C>A	ENST00000250076.3	-	5	1698	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Missense_Mutation_p.Q339H|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	321					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCTCTGATGCTGACCGAGGT	0.448																																																	0								ENSG00000167840						109	111	110					17																	5009410		2203	4300	6503	ZNF232	SO:0001583	missense	0			-	HGNC	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1044G>T	17.37:g.5009410C>A	ENSP00000250076:p.Gln348His	Somatic	0	26	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q348H	ENST00000250076.3	37	c.1044	CCDS11068.1	17	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685424	0.29872	.	.	ENSG00000167840	ENST00000250076	T	0.18338	2.22	2.83	0.799	0.18667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.285508	0.19030	N	0.124565	T	0.12092	0.0294	L	0.39566	1.225	0.80722	D	1	B;B	0.28801	0.152;0.223	B;B	0.26517	0.07;0.042	T	0.10245	-1.0638	10	0.42905	T	0.14	.	6.9575	0.24580	0.0:0.7526:0.0:0.2474	.	321;312	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	H	348	ENSP00000250076:Q348H	ENSP00000250076:Q348H	Q	-	3	2	ZNF232	4950134	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-3.745000	0.00377	0.250000	0.21479	0.655000	0.94253	CAG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	protein_coding	OTTHUMT00000216915.1	C	NM_014519	-		5009410	-1	no_errors	ENST00000250076	ensembl	human	known	74_37	missense	SNP	0.287	A	A	5009410	C	A	5009410	3	1	103	1	0	0	0	0	1	0	0	0	17792	796	28	3	294	3	ZNF232	17	5009410	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		5009410	76185800	51	6755											
KDM6B	23135	genome.wustl.edu	37	chr17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC													ccactgcctccaccaccattINSaccaccaccaccaccaccac					rs375218857|rs61462443		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:7750177_7750178insACCACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACCACC	c.(751-756)ttacca>ttACCACCacca	p.264_265insPP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insPP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614																																																	0								ENSG00000132510																																			KDM6B	SO:0001652	inframe_insertion	0				HGNC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.783_788dupACCACC	17.37:g.7750178_7750183dupACCACC	ENSP00000412513:p.Pro263_Pro264dup	Somatic					0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1				C9IZ40|Q96G33	In_Frame_Ins	INS							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.255in_frame_insPP	ENST00000448097.2	37	c.752_753		17																																																																																			-	NULL		0.614	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	protein_coding	OTTHUMT00000440248.1	-	XM_043272			7750178	1	no_errors	ENST00000254846	ensembl	human	known	74_37	in_frame_ins	INS	0.470:0.528	ACCACC	ACCACC	7750178	-	ACCACC	7750177	7	5	103	1	0	1	1	0	0	0	0	0	8140	1764	61	0	774	0	KDM6B	17	7750177	In_Frame_Ins	INS	-	TCGA-DX-A8BQ-01A-11D-A37C-09	2740767	7750177	73445033	52	6756											
UBB	7314	genome.wustl.edu	37	chr17	16285600	16285600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttgcaggcaagcagctgGaagatggccgcactctttct	11	11	3	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:16285600G>A	ENST00000395837.1	+	2	560	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	UBB_ENST00000395839.1_Missense_Mutation_p.E127K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.E127K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	127	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CAAGCAGCTGGAAGATGGCCG	0.547																																					Melanoma(163;1126 3406 34901)												0								ENSG00000170315						84	85	84					17																	16285600		2203	4298	6501	UBB	SO:0001583	missense	0			-	HGNC		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.379G>A	17.37:g.16285600G>A	ENSP00000379178:p.Glu127Lys	Somatic	0	113	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	72	9.88	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP							pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E127K	ENST00000395837.1	37	c.379	CCDS11177.1	17	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078273	0.55753	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.28666	1.6;1.6;1.6	4.13	4.13	0.48395	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.52532	U	0.000068	T	0.29423	0.0733	L	0.45422	1.42	0.80722	D	1	B	0.25850	0.136	B	0.25614	0.062	T	0.21793	-1.0235	10	0.87932	D	0	.	15.8221	0.78662	0.0:0.0:1.0:0.0	.	127	P0CG47	UBB_HUMAN	K	127	ENSP00000304697:E127K;ENSP00000379180:E127K;ENSP00000379178:E127K	ENSP00000304697:E127K	E	+	1	0	UBB	16226325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.736000	0.91554	2.043000	0.60533	0.644000	0.83932	GAA	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup		0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	UBB	protein_coding	OTTHUMT00000130459.1	G	NM_018955	-		16285600	1	no_errors	ENST00000302182	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	16285600	G	A	16285600	3	1	103	1	0	0	0	0	1	0	0	0	16848	1175	41	2	381	2	UBB	17	16285600	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	8535423	16285600	64909610	53	6757											
SLFN5	162394	genome.wustl.edu	37	chr17	33592322	33592322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagttgcagtggcctcccCcctccctcagaccagtatcc	8	17	1	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:33592322C>T	ENST00000299977.4	+	5	2239	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	697					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGGCCTCCCCCCTCCCTCAG	0.498																																																	0								ENSG00000166750						112	110	111					17																	33592322		2203	4300	6503	SLFN5	SO:0001819	synonymous_variant	0			-	HGNC	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2091C>T	17.37:g.33592322C>T		Somatic	0	23	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q08AF2|Q8WU54|Q96A82	Silent	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P697	ENST00000299977.4	37	c.2091	CCDS32619.1	17																																																																																			-	superfamily_P-loop_NTPase		0.498	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	protein_coding	OTTHUMT00000448649.2	C	NM_144975	-		33592322	1	no_errors	ENST00000299977	ensembl	human	known	74_37	silent	SNP	0.000	T	T	33592322	C	T	33592322	2	4	103	1	0	0	0	0	0	0	0	1	14745	610	22	2		2	SLFN5	17	33592322	Silent	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	17306722	33592322	47602888	54	6758											
KIAA1267	284058	genome.wustl.edu	37	chr17	44144936	44144936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttaataactccattgacaGgtctgagtgctccacatgat	8	9	1	3			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:44144936G>T	ENST00000262419.6	-	5	2101	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	KANSL1_ENST00000572904.1_Missense_Mutation_p.P544H|KANSL1_ENST00000575318.1_Missense_Mutation_p.P544H|KANSL1_ENST00000432791.1_Missense_Mutation_p.P544H|KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Missense_Mutation_p.P544H	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	544					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.P544H(1)									TCCATTGACAGGTCTGAGTGC	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000120071						128	114	119					17																	44144936		2203	4300	6503	KANSL1	SO:0001583	missense	0			-	HGNC	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.1631C>A	17.37:g.44144936G>T	ENSP00000262419:p.Pro544His	Somatic	0	31	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP							NULL	p.P544H	ENST00000262419.6	37	c.1631	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107479	0.77096	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.51071	0.72;0.72	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.994	T	0.68372	-0.5426	10	0.66056	D	0.02	-12.832	15.5344	0.75990	0.0:0.0:1.0:0.0	.	544;544	C9JHY2;Q7Z3B3	.;K1267_HUMAN	H	544	ENSP00000262419:P544H;ENSP00000387393:P544H	ENSP00000262419:P544H	P	-	2	0	KIAA1267	41500758	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.683000	0.74533	2.432000	0.82394	0.655000	0.94253	CCT	-	NULL		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	protein_coding	OTTHUMT00000440274.1	G	NM_015443	-		44144936	-1	no_errors	ENST00000262419	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44144936	G	T	44144936	3	4	103	1	0	0	0	0	1	0	0	0	8221	1000	35	3	1730	3	KIAA1267	17	44144936	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	10552614	44144936	37050274	55	6759											
LAMA3	3909	genome.wustl.edu	37	chr18	21413940	21413940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccaggtgaacatttacaGctgcaactacaggtactcag	10	10	1	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:21413940G>T	ENST00000313654.9	+	24	3213	c.2972G>T	c.(2971-2973)aGc>aTc	p.S991I	LAMA3_ENST00000399516.3_Missense_Mutation_p.S991I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	991	Domain IV 1 (domain IV B).				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)					AACATTTACAGCTGCAACTAC	0.498																																																	0								ENSG00000053747						162	161	161					18																	21413940		2006	4173	6179	LAMA3	SO:0001583	missense	0			-	HGNC	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.2972G>T	18.37:g.21413940G>T	ENSP00000324532:p.Ser991Ile	Somatic	0	36	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.S991I	ENST00000313654.9	37	c.2972	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079557	0.55753	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19250	2.17;2.16	5.76	4.9	0.64082	.	.	.	.	.	T	0.44829	0.1312	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	T	0.38929	-0.9638	9	0.41790	T	0.15	.	11.5608	0.50776	0.145:0.0:0.855:0.0	.	991;991	Q6VU67;Q16787	.;LAMA3_HUMAN	I	991;991;989	ENSP00000324532:S991I;ENSP00000382432:S991I	ENSP00000324532:S991I	S	+	2	0	LAMA3	19667938	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	4.525000	0.60559	1.456000	0.47831	-0.373000	0.07131	AGC	-	NULL		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129	-		21413940	1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21413940	G	T	21413940	3	4	103	1	0	0	0	0	1	0	0	0	8609	971	34	3	3066	3	LAMA3	18	21413940	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		21413940	56663308	56	6760											
RTTN	25914	genome.wustl.edu	37	chr18	67671407	67671407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaagaattaaggagctGcacgaggttttcaagacatt	11	6	2	2			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:67671407G>A	ENST00000255674.6	-	49	6947	c.6661C>T	c.(6661-6663)Cag>Tag	p.Q2221*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2221					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTAAGGAGCTGCACGAGGTTT	0.428																																																	0								ENSG00000176225						144	139	140					18																	67671407		1886	4118	6004	RTTN	SO:0001587	stop_gained	0			-	HGNC	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6661C>T	18.37:g.67671407G>A	ENSP00000255674:p.Gln2221*	Somatic	0	51	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP							superfamily_ARM-type_fold	p.Q2221*	ENST00000255674.6	37	c.6661	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	48	14.202480	0.99784	.	.	ENSG00000176225	ENST00000255674	.	.	.	5.12	5.12	0.69794	.	0.088069	0.47852	D	0.000220	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	16.336	0.83060	0.0:0.0:1.0:0.0	.	.	.	.	X	2221	.	ENSP00000255674:Q2221X	Q	-	1	0	RTTN	65822387	1.000000	0.71417	0.357000	0.25798	0.765000	0.43378	3.701000	0.54793	2.360000	0.80028	0.585000	0.79938	CAG	-	NULL		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	protein_coding	OTTHUMT00000442988.1	G	NM_173630	-		67671407	-1	no_errors	ENST00000255674	ensembl	human	known	74_37	nonsense	SNP	0.956	A	A	67671407	G	A	67671407	4	1	103	1	0	0	0	0	0	1	0	0	13745	1328	46	2	23	2	RTTN	18	67671407	Nonsense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	46257467	67671407	10405841	57	6761											
CBLN2	147381	genome.wustl.edu	37	chr18	70209247	70209247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgtgtcgttctgcgccCgcacggggcagcaggcgggc	17	15	1	0	rs560158029		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:70209247C>T	ENST00000269503.4	-	3	922	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R50Q	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	50					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTCTGCGCCCGCACGGGGCA	0.756													C|||	1	0.000199681	0	0	5008	,	,		10481	0		0	False		,,,				2504	0.001																0								ENSG00000141668						20	21	21					18																	70209247		2200	4296	6496	CBLN2	SO:0001583	missense	0			-	HGNC	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.149G>A	18.37:g.70209247C>T	ENSP00000269503:p.Arg50Gln	Somatic	0	33	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q53Z56	Missense_Mutation	SNP							pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R50Q	ENST00000269503.4	37	c.149	CCDS11999.1	18	.	.	.	.	.	.	.	.	.	.	C	17.08	3.299029	0.60195	.	.	ENSG00000141668	ENST00000269503	D	0.81579	-1.51	4.54	2.55	0.30701	.	0.700308	0.14094	N	0.341825	T	0.62720	0.2451	L	0.34521	1.04	0.80722	D	1	B	0.33044	0.395	B	0.15870	0.014	T	0.54990	-0.8210	10	0.20519	T	0.43	-2.823	6.164	0.20380	0.0:0.5626:0.2647:0.1726	.	50	Q8IUK8	CBLN2_HUMAN	Q	50	ENSP00000269503:R50Q	ENSP00000269503:R50Q	R	-	2	0	CBLN2	68360227	.	.	0.991000	0.47740	0.976000	0.68499	.	.	1.010000	0.39314	0.462000	0.41574	CGG	-	NULL		0.756	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	protein_coding	OTTHUMT00000256288.1	C	NM_182511	-		70209247	-1	no_errors	ENST00000269503	ensembl	human	known	74_37	missense	SNP	0.998	T	T	70209247	C	T	70209247	3	4	103	1	0	0	0	0	1	0	0	0	2707	652	23	1	537	1	CBLN2	18	70209247	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09	2537840	70209247	7868001	58	6762											
CACNA1A	773	genome.wustl.edu	37	chr19	13446677	13446677	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagccgatgatgatgaggGggatgaagtacaaccagttc	15	6	0	4			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr19:13446677G>C	ENST00000360228.5	-	7	1024	c.1025C>G	c.(1024-1026)cCc>cGc	p.P342R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P342R	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	342					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)			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)	GATGATGAGGGGGATGAAGTA	0.517																																																	0								ENSG00000141837						95	96	96					19																	13446677		2078	4216	6294	CACNA1A	SO:0001583	missense	0			-	HGNC	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.1025C>G	19.37:g.13446677G>C	ENSP00000353362:p.Pro342Arg	Somatic	0	75	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	57	19.72	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P342R	ENST00000360228.5	37	c.1025	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464878	0.63513	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98400	-4.91	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99731	1.1012	10	0.87932	D	0	.	17.6115	0.88055	0.0:0.0:1.0:0.0	.	342;342	O00555;Q9NS88	CAC1A_HUMAN;.	R	342	ENSP00000353362:P342R	ENSP00000317661:P342R	P	-	2	0	CACNA1A	13307677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.521000	0.84997	0.650000	0.86243	CCC	-	pfam_Ion_trans_dom		0.517	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	G	NM_000068	-		13446677	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	SNP	1.000	C	C	13446677	G	C	13446677	3	2	103	1	0	0	0	0	1	0	0	0	2540	1232	43	4	6773	4	CACNA1A	19	13446677	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		13446677	45682306	59	6763											
MIA	8190	genome.wustl.edu	37	chr19	41281484	41281484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttggtgtcatcatcTtgctgtctgccttctccgga	10	12	5	0			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr19:41281484T>C	ENST00000263369.3	+	1	203	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	MIA_ENST00000594436.1_Silent_p.L13L|MIA_ENST00000597784.1_Silent_p.L13L|MIA-RAB4B_ENST00000600729.1_Silent_p.L13L|RAB4B-EGLN2_ENST00000594136.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|RAB4B_ENST00000594800.1_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	13					cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TGTCATCATCTTGCTGTCTGC	0.612																																																	0								ENSG00000261857						183	155	164					19																	41281484		2203	4300	6503	MIA	SO:0001819	synonymous_variant	0			-	HGNC	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.37T>C	19.37:g.41281484T>C		Somatic	0	31	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q6FHV3	Silent	SNP							pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L13	ENST00000263369.3	37	c.37	CCDS12566.1	19																																																																																			-	NULL		0.612	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIA	protein_coding	OTTHUMT00000463162.1	T		-		41281484	1	no_errors	ENST00000263369	ensembl	human	known	74_37	silent	SNP	0.940	C	C	41281484	T	C	41281484	2	2	103	1	0	0	0	0	0	0	0	1	9565	1606	56	5		5	MIA	19	41281484	Silent	SNP	T	TCGA-DX-A8BQ-01A-11D-A37C-09	27834807	41281484	17847499	60	6764											
TMX4	56255	genome.wustl.edu	37	chr20	7962918	7962918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacagtcccttgtcagcatGctgacttttacgctgcctca	7	14	2	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr20:7962918G>T	ENST00000246024.2	-	8	1245	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	344					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TTGTCAGCATGCTGACTTTTA	0.483																																																	0								ENSG00000125827						77	69	72					20																	7962918		2203	4300	6503	TMX4	SO:0001583	missense	0			-	HGNC		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1030C>A	20.37:g.7962918G>T	ENSP00000246024:p.His344Asn	Somatic	0	24	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.H344N	ENST00000246024.2	37	c.1030	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	5.102	0.204421	0.09704	.	.	ENSG00000125827	ENST00000246024	T	0.09911	2.93	5.84	-0.264	0.12950	.	1.571930	0.03189	N	0.173131	T	0.06872	0.0175	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.10636	T	0.68	0.0174	3.0805	0.06260	0.0826:0.1997:0.3261:0.3915	.	344	Q9H1E5	TMX4_HUMAN	N	344	ENSP00000246024:H344N	ENSP00000246024:H344N	H	-	1	0	TMX4	7910918	0.322000	0.24634	0.270000	0.24601	0.145000	0.21501	0.808000	0.27154	0.349000	0.23975	0.557000	0.71058	CAT	-	NULL		0.483	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	protein_coding	OTTHUMT00000077928.2	G	NM_021156	-		7962918	-1	no_errors	ENST00000246024	ensembl	human	known	74_37	missense	SNP	0.012	T	T	7962918	G	T	7962918	3	4	103	1	0	0	0	0	1	0	0	0	16276	1319	46	3	23	3	TMX4	20	7962918	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		7962918	55062602	61	6765											
KIAA0406	9675	genome.wustl.edu	37	chr20	36640746	36640746	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taataaccaagtagctgacaAacctgcctcaagagcatgaa	7	10	1	3			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr20:36640746A>T	ENST00000373448.2	-	3	1711	c.1473T>A	c.(1471-1473)gtT>gtA	p.V491V	TTI1_ENST00000449821.1_Silent_p.V491V|TTI1_ENST00000373447.3_Silent_p.V491V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	491					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAGCTGACAAACCTGCCTCA	0.448																																																	0								ENSG00000101407						60	65	64					20																	36640746		2203	4300	6503	TTI1	SO:0001819	synonymous_variant	0			-	HGNC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1473T>A	20.37:g.36640746A>T		Somatic	0	32	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP							superfamily_ARM-type_fold,pirsf_UCP005250	p.V491	ENST00000373448.2	37	c.1473	CCDS13300.1	20																																																																																			-	superfamily_ARM-type_fold,pirsf_UCP005250		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	A	NM_014657	-		36640746	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	SNP	0.417	T	T	36640746	A	T	36640746	2	4	103	1	0	0	0	0	0	0	0	1	8175	1	1	5		5	KIAA0406	20	36640746	Silent	SNP	A	TCGA-DX-A8BQ-01A-11D-A37C-09	28677828	36640746	26384774	62	6766											
CELSR1	9620	genome.wustl.edu	37	chr22	46782439	46782439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgctcccacgccgccCtggtggctggggccaggagg	17	14	1	0			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr22:46782439C>A	ENST00000262738.3	-	19	6598	c.6599G>T	c.(6598-6600)aGg>aTg	p.R2200M		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2200					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)			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)		CCACGCCGCCCTGGTGGCTGG	0.706																																																	0								ENSG00000075275						12	13	13					22																	46782439		2194	4287	6481	CELSR1	SO:0001583	missense	0			-	HGNC	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.6599G>T	22.37:g.46782439C>A	ENSP00000262738:p.Arg2200Met	Somatic	0	54	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2200M	ENST00000262738.3	37	c.6599	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790544	0.50102	.	.	ENSG00000075275	ENST00000262738	T	0.10192	2.9	5.0	1.64	0.23874	Domain of unknown function DUF3497 (1);	0.360454	0.23993	U	0.042544	T	0.20292	0.0488	L	0.61218	1.895	0.48571	D	0.999671	D;P	0.64830	0.994;0.953	D;P	0.70935	0.971;0.796	T	0.09292	-1.0681	10	0.51188	T	0.08	.	0.9432	0.01360	0.1571:0.3755:0.1535:0.3139	.	521;2200	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	M	2200	ENSP00000262738:R2200M	ENSP00000262738:R2200M	R	-	2	0	CELSR1	45161103	0.641000	0.27251	0.027000	0.17364	0.415000	0.31203	1.034000	0.30204	0.122000	0.18314	0.655000	0.94253	AGG	-	pfam_DUF3497		0.706	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	C	NM_014246	-		46782439	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	0.740	A	A	46782439	C	A	46782439	3	1	103	1	0	0	0	0	1	0	0	0	3223	681	24	3	2513	3	CELSR1	22	46782439	Missense_Mutation	SNP	C	TCGA-DX-A8BQ-01A-11D-A37C-09		46782439	4522127	63	6767											
FAM47B	170062	genome.wustl.edu	37	chrX	34961058	34961058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaagcgcaagcacaggcGcctgaggttcccgcctgtgg	15	14	0	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chrX:34961058G>A	ENST00000329357.5	+	1	146	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	37										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						AAGCACAGGCGCCTGAGGTTC	0.597																																																	0								ENSG00000189132						32	28	29					X																	34961058		2202	4296	6498	FAM47B	SO:0001583	missense	0			-	HGNC	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.110G>A	X.37:g.34961058G>A	ENSP00000328307:p.Arg37His	Somatic	0	31	0		0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q5JQN5|Q6PIG3	Missense_Mutation	SNP							NULL	p.R37H	ENST00000329357.5	37	c.110	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	g	5.317	0.243826	0.10077	.	.	ENSG00000189132	ENST00000329357	T	0.21191	2.02	0.226	0.226	0.15353	.	.	.	.	.	T	0.15998	0.0385	L	0.46741	1.465	0.09310	N	1	B	0.29531	0.247	B	0.25291	0.059	T	0.20505	-1.0273	8	0.44086	T	0.13	.	.	.	.	.	37	Q8NA70	FA47B_HUMAN	H	37	ENSP00000328307:R37H	ENSP00000328307:R37H	R	+	2	0	FAM47B	34870979	0.036000	0.19791	0.009000	0.14445	0.023000	0.10783	0.358000	0.20216	0.283000	0.22279	0.287000	0.19450	CGC	-	NULL		0.597	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	G	NM_152631	-		34961058	1	no_errors	ENST00000329357	ensembl	human	known	74_37	missense	SNP	0.009	A	A	34961058	G	A	34961058	3	1	103	1	0	0	0	0	1	0	0	0	5572	1087	38	1	112	1	FAM47B	23	34961058	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09		34961058	120309502	64	6768											
FLNA	2316	genome.wustl.edu	37	chrX	153588591	153588591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctcaatggtcagctccGcgctgcccgcgctcgagcag	12	15	2	1			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chrX:153588591G>A	ENST00000369850.3	-	22	3808	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V|FLNA_ENST00000422373.1_Missense_Mutation_p.A1191V|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000196924						36	42	40					X																	153588591		2050	4158	6208	FLNA	SO:0001583	missense	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3572C>T	X.37:g.153588591G>A	ENSP00000358866:p.Ala1191Val	Somatic	0	22	0	1756	0.41531835101791				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A1191V	ENST00000369850.3	37	c.3572	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702102	0.48307	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-2.94	4.92	4.92	0.64577	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.65874	0.939;0.934	D	0.97256	0.9901	10	0.87932	D	0	.	14.0254	0.64582	0.0:0.1597:0.8403:0.0	.	1191;1191	P21333-2;P21333	.;FLNA_HUMAN	V	1191;1164;1191;1191;1191	ENSP00000353467:A1191V;ENSP00000416926:A1191V;ENSP00000358866:A1191V;ENSP00000358863:A1191V	ENSP00000358863:A1191V	A	-	2	0	FLNA	153241785	1.000000	0.71417	0.076000	0.20297	0.130000	0.20726	3.423000	0.52756	2.043000	0.60533	0.525000	0.51046	GCG	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	G		-		153588591	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	missense	SNP	0.994	A	A	153588591	G	A	153588591	3	1	103	1	0	0	0	0	1	0	0	0	5935	1087	38	1	4479	1	FLNA	23	153588591	Missense_Mutation	SNP	G	TCGA-DX-A8BQ-01A-11D-A37C-09	118627533	153588591	1681969	65	6769											
ALPL	249	genome.wustl.edu	37	chr1	21903986	21903986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcacctgctgcacggcGtccacgagcagaactacgtc	12	15	0	1	rs376354718		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:21903986G>C	ENST00000374840.3	+	12	1670	c.1420G>C	c.(1420-1422)Gtc>Ctc	p.V474L	ALPL_ENST00000425315.2_Missense_Mutation_p.V474L|ALPL_ENST00000374830.1_Missense_Mutation_p.V120L|ALPL_ENST00000374829.1_Missense_Mutation_p.V120L|ALPL_ENST00000540617.1_Missense_Mutation_p.V419L|ALPL_ENST00000374832.1_Missense_Mutation_p.V474L|ALPL_ENST00000539907.1_Missense_Mutation_p.V397L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	474					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCTGCACGGCGTCCACGAGCA	0.692																																																	0								ENSG00000162551						53	48	50					1																	21903986		2203	4299	6502	ALPL	SO:0001583	missense	0			-	HGNC	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1420G>C	1.37:g.21903986G>C	ENSP00000363973:p.Val474Leu	Somatic	0	65	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP							pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.V474L	ENST00000374840.3	37	c.1420	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.281989	0.59867	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	4.91	4.0	0.46444	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.60845	1.875	0.51233	D	0.999915	B;P;P	0.48350	0.404;0.909;0.84	B;P;B	0.51385	0.385;0.668;0.422	D	0.93948	0.7229	10	0.48119	T	0.1	-44.3759	10.5861	0.45284	0.093:0.0:0.907:0.0	.	397;422;474	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	L	397;419;474;474;474;120;120	ENSP00000437674:V397L;ENSP00000442672:V419L;ENSP00000363973:V474L;ENSP00000363965:V474L;ENSP00000394765:V474L;ENSP00000363963:V120L;ENSP00000363962:V120L	ENSP00000363962:V120L	V	+	1	0	ALPL	21776573	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	9.204000	0.95041	1.306000	0.44926	0.556000	0.70494	GTC	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.692	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	protein_coding	OTTHUMT00000008202.1	G	NM_000478	-		21903986	1	no_errors	ENST00000374832	ensembl	human	known	74_37	missense	SNP	1.000	C	C	21903986	G	C	21903986	3	2	104	1	0	0	0	0	1	0	0	0	547	1145	40	4	1462	4	ALPL	1	21903986	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		21903986	227346635	1	6770											
WDR63	126820	genome.wustl.edu	37	chr1	85555896	85555896	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagcctttggttgattttCttaacaatgcatccataagg	7	8	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:85555896C>T	ENST00000294664.6	+	8	1018	c.838C>T	c.(838-840)Ctt>Ttt	p.L280F	WDR63_ENST00000370596.1_Intron|WDR63_ENST00000326813.8_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	280										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGTTGATTTTCTTAACAATGC	0.269																																																	0								ENSG00000162643						38	40	40					1																	85555896		2199	4292	6491	WDR63	SO:0001583	missense	0			-	HGNC		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.838C>T	1.37:g.85555896C>T	ENSP00000294664:p.Leu280Phe	Somatic	0	99	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	58	25.64	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L280F	ENST00000294664.6	37	c.838	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	C	3.472	-0.107654	0.06924	.	.	ENSG00000162643	ENST00000294664	T	0.45276	0.9	5.6	3.73	0.42828	.	0.514246	0.21736	N	0.069881	T	0.12263	0.0298	L	0.39085	1.19	0.28061	N	0.932953	B	0.12013	0.005	B	0.09377	0.004	T	0.18524	-1.0334	10	0.29301	T	0.29	-20.1337	6.4425	0.21856	0.0:0.6885:0.1497:0.1618	.	280	Q8IWG1	WDR63_HUMAN	F	280	ENSP00000294664:L280F	ENSP00000294664:L280F	L	+	1	0	WDR63	85328484	0.998000	0.40836	0.989000	0.46669	0.075000	0.17131	0.535000	0.23114	0.712000	0.32039	-0.218000	0.12543	CTT	-	NULL		0.269	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	protein_coding	OTTHUMT00000027565.2	C	NM_145172	-		85555896	1	no_errors	ENST00000294664	ensembl	human	known	74_37	missense	SNP	0.999	T	T	85555896	C	T	85555896	3	4	104	1	0	0	0	0	1	0	0	0	17321	913	32	2	864	2	WDR63	1	85555896	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	63651910	85555896	163694725	2	6771											
ALDH9A1	223	genome.wustl.edu	37	chr1	165649861	165649861	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagcctcactgtagatttCagccagtagcaatgcagaaa	8	11	2	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:165649861C>A	ENST00000354775.4	-	5	956	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Nonsense_Mutation_p.E124*	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	194					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTGTAGATTTCAGCCAGTAGC	0.488																																					Ovarian(179;1583 2014 18106 33801 42447)												0								ENSG00000143149						107	109	108					1																	165649861		2203	4300	6503	ALDH9A1	SO:0001587	stop_gained	0			-	HGNC	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.652G>T	1.37:g.165649861C>A	ENSP00000346827:p.Glu218*	Somatic	0	74	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	59	27.16	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Nonsense_Mutation	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E218*	ENST00000354775.4	37	c.652	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	C	41	8.761812	0.98943	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	.	.	.	5.63	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.8189	0.57681	0.0:0.9187:0.0:0.0813	.	.	.	.	X	218;124	.	ENSP00000346827:E218X	E	-	1	0	ALDH9A1	163916485	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	7.619000	0.83057	2.644000	0.89710	0.655000	0.94253	GAA	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.488	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	protein_coding	OTTHUMT00000083899.1	C		-		165649861	-1	no_errors	ENST00000354775	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	165649861	C	A	165649861	4	1	104	1	0	0	0	0	0	1	0	0	506	835	29	3	932	3	ALDH9A1	1	165649861	Nonsense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	80093965	165649861	83600760	3	6772											
AHCTF1	25909	genome.wustl.edu	37	chr1	247063653	247063653	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcataccttaacgaatctggCatttgtgcatgataccaacg	7	10	2	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:247063653C>A	ENST00000391829.2	-	9	1359	c.1236G>T	c.(1234-1236)atG>atT	p.M412I	AHCTF1_ENST00000326225.3_Missense_Mutation_p.M421I|AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000366508.1_Missense_Mutation_p.M447I			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	412	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACGAATCTGGCATTTGTGCAT	0.343																																					Colon(145;197 1800 4745 15099 26333)												0								ENSG00000153207						67	73	71					1																	247063653		2203	4300	6503	AHCTF1	SO:0001583	missense	0			-	HGNC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1236G>T	1.37:g.247063653C>A	ENSP00000375705:p.Met412Ile	Somatic	0	102	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	16	62.79	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP							superfamily_Quinonprotein_ADH-like_supfam	p.M421I	ENST00000391829.2	37	c.1263		1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491310	0.84962	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.54479	0.57;0.57;0.58	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.75484	0.986;0.986	T	0.68059	-0.5509	10	0.72032	D	0.01	-20.0011	18.667	0.91493	0.0:1.0:0.0:0.0	.	447;412	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	I	447;421;412	ENSP00000355464:M447I;ENSP00000355465:M421I;ENSP00000375705:M412I	ENSP00000355465:M421I	M	-	3	0	AHCTF1	245130276	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.256000	0.78350	2.483000	0.83821	0.455000	0.32223	ATG	-	NULL		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	protein_coding		C	NM_015446	-		247063653	-1	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	SNP	1.000	A	A	247063653	C	A	247063653	3	1	104	1	0	0	0	0	1	0	0	0	408	710	25	3	5676	3	AHCTF1	1	247063653	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	81413792	247063653	2186968	4	6773											
NEB	4703	genome.wustl.edu	37	chr2	152426653	152426653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgttctggtcgggcatgCaggtccactggtgcaggtaa	14	10	1	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:152426653C>T	ENST00000172853.10	-	81	12416	c.12269G>A	c.(12268-12270)tGc>tAc	p.C4090Y	NEB_ENST00000409198.1_Missense_Mutation_p.C4090Y|NEB_ENST00000427231.2_Missense_Mutation_p.C5791Y|NEB_ENST00000604864.1_Missense_Mutation_p.C5791Y|NEB_ENST00000397345.3_Missense_Mutation_p.C5791Y|NEB_ENST00000603639.1_Missense_Mutation_p.C5791Y			P20929	NEBU_HUMAN	nebulin	4090					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)		GTCGGGCATGCAGGTCCACTG	0.517																																																	0								ENSG00000183091						48	48	48					2																	152426653		2065	4198	6263	NEB	SO:0001583	missense	0			-	HGNC	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.12269G>A	2.37:g.152426653C>T	ENSP00000172853:p.Cys4090Tyr	Somatic	0	54	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.C5791Y	ENST00000172853.10	37	c.17372		2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743075	0.89663	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.95	5.95	0.96441	.	0.041535	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.87578	0.998;0.98	T	0.62039	-0.6938	10	0.51188	T	0.08	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	4090;521	P20929;Q14215	NEBU_HUMAN;.	Y	4090;5791;5791;139;521;4090	ENSP00000386259:C4090Y;ENSP00000380505:C5791Y;ENSP00000416578:C5791Y;ENSP00000410961:C521Y;ENSP00000172853:C4090Y	ENSP00000172853:C4090Y	C	-	2	0	NEB	152134899	1.000000	0.71417	0.921000	0.36526	0.995000	0.86356	7.818000	0.86416	2.826000	0.97356	0.563000	0.77884	TGC	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.517	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152426653	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152426653	C	T	152426653	3	4	104	1	0	0	0	0	1	0	0	0	10304	710	25	2	8610	2	NEB	2	152426653	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09		152426653	90772720	5	6774											
C2orf24	27013	genome.wustl.edu	37	chr2	220041005	220041005	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtcccagccatagtAgagcctccttcggatccggg	10	15	0	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:220041005A>C	ENST00000409789.1	-	3	545	c.118T>G	c.(118-120)Tac>Gac	p.Y40D	CNPPD1_ENST00000360507.5_Missense_Mutation_p.Y40D|FAM134A_ENST00000430297.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	40					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CAGCCATAGTAGAGCCTCCTT	0.597																																																	0								ENSG00000115649						54	55	55					2																	220041005		2203	4300	6503	CNPPD1	SO:0001583	missense	0			-	HGNC	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.118T>G	2.37:g.220041005A>C	ENSP00000386277:p.Tyr40Asp	Somatic	0	46	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP							pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	p.Y40D	ENST00000409789.1	37	c.118	CCDS2433.1	2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792514	0.90453	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.47177	1.74;1.74;0.85	4.54	4.54	0.55810	.	0.061550	0.64402	D	0.000002	T	0.57695	0.2071	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62053	-0.6935	10	0.72032	D	0.01	-15.589	14.3173	0.66460	1.0:0.0:0.0:0.0	.	40	Q9BV87	CNPD1_HUMAN	D	40	ENSP00000353698:Y40D;ENSP00000386277:Y40D;ENSP00000410109:Y40D	ENSP00000353698:Y40D	Y	-	1	0	CNPPD1	219749249	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.812000	0.86109	2.018000	0.59344	0.533000	0.62120	TAC	-	NULL		0.597	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNPPD1	protein_coding	OTTHUMT00000336220.1	A	NM_015680	-		220041005	-1	no_errors	ENST00000360507	ensembl	human	known	74_37	missense	SNP	1.000	C	C	220041005	A	C	220041005	3	2	104	1	0	0	0	0	1	0	0	0	2161	420	15	5	1142	5	C2orf24	2	220041005	Missense_Mutation	SNP	A	TCGA-DX-A8BR-01A-11D-A417-09	67614352	220041005	23158368	6	6775											
SLC4A3	6508	genome.wustl.edu	37	chr2	220498114	220498114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccctgatggggcggtgCctaccatggctgatgacctg	15	11	0	3			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:220498114C>T	ENST00000358055.3	+	10	1908	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	SLC4A3_ENST00000373760.2_Missense_Mutation_p.P466S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.P493S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.P466S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.P493S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	466				P -> S (in Ref. 2; AAB05850). {ECO:0000305}.	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)		TGGGGCGGTGCCTACCATGGC	0.622																																																	0								ENSG00000114923						66	60	62					2																	220498114		2203	4300	6503	SLC4A3	SO:0001583	missense	0			-	HGNC		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.1396C>T	2.37:g.220498114C>T	ENSP00000350756:p.Pro466Ser	Somatic	0	34	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.P493S	ENST00000358055.3	37	c.1477	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839709	0.71488	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.75	4.75	0.60458	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.380715	0.25674	N	0.029051	T	0.75606	0.3872	M	0.64080	1.96	0.58432	D	0.99999	P;D	0.76494	0.949;0.999	P;D	0.69824	0.877;0.966	T	0.75557	-0.3276	10	0.44086	T	0.13	.	16.121	0.81357	0.0:1.0:0.0:0.0	.	466;493	P48751;P48751-3	B3A3_HUMAN;.	S	466;466;493;493;466	ENSP00000350756:P466S;ENSP00000362865:P466S;ENSP00000273063:P493S;ENSP00000362867:P493S;ENSP00000314006:P466S	ENSP00000273063:P493S	P	+	1	0	SLC4A3	220206358	0.998000	0.40836	0.723000	0.30687	0.793000	0.44817	4.993000	0.63895	2.469000	0.83416	0.549000	0.68633	CCT	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Anion_exchange_3,tigrfam_HCO3_transpt_euk		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	C	NM_005070	-		220498114	1	no_errors	ENST00000273063	ensembl	human	known	74_37	missense	SNP	0.996	T	T	220498114	C	T	220498114	3	4	104	1	0	0	0	0	1	0	0	0	14663	739	26	2	1511	2	SLC4A3	2	220498114	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	457109	220498114	22701259	7	6776											
CCDC13	152206	genome.wustl.edu	37	chr3	42781189	42781189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accagggttcccatctgactCttgagggtcttcatctcact	8	13	5	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:42781189C>T	ENST00000310232.6	-	9	1184	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	367										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCATCTGACTCTTGAGGGTCT	0.567																																																	0								ENSG00000244607						171	150	157					3																	42781189		2203	4300	6503	CCDC13	SO:0001819	synonymous_variant	0			-	HGNC	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1101G>A	3.37:g.42781189C>T		Somatic	0	59	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26		Silent	SNP							superfamily_Prefoldin	p.K367	ENST00000310232.6	37	c.1101	CCDS2705.1	3																																																																																			-	superfamily_Prefoldin		0.567	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	protein_coding	OTTHUMT00000256652.1	C	NM_144719	-		42781189	-1	no_errors	ENST00000310232	ensembl	human	known	74_37	silent	SNP	0.944	T	T	42781189	C	T	42781189	2	4	104	1	0	0	0	0	0	0	0	1	2767	912	32	2		2	CCDC13	3	42781189	Silent	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09		42781189	155241241	8	6777											
FYCO1	79443	genome.wustl.edu	37	chr3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctactcactgttcagccGcatttgggtcgagagaatca	9	12	4	1	rs140583635		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																																	0								ENSG00000163820	G	VAL/ALA	0,4406		0,0,2203	176	181	179		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	FYCO1	SO:0001583	missense	0			-	HGNC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val	Somatic	0	67	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP							pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.A1312V	ENST00000296137.2	37	c.3935	CCDS2734.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG	-	NULL		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	protein_coding	OTTHUMT00000257320.2	G	NM_024513	rs140583635		45996750	-1	no_errors	ENST00000535325	ensembl	human	known	74_37	missense	SNP	0.213	A	A	45996750	G	A	45996750	3	1	104	1	0	0	0	0	1	0	0	0	6127	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	3215561	45996750	152025680	9	6778											
CSPG5	10675	genome.wustl.edu	37	chr3	47610660	47610660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttgggtgagagccctcGgcaatggtggagagggagaa	17	6	0	3			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:47610660G>A	ENST00000383738.2	-	4	3538	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	CSPG5_ENST00000456150.1_Silent_p.A342A|CSPG5_ENST00000264723.4_Silent_p.A480A	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	480					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGAGCCCTCGGCAATGGTGG	0.498																																																	0								ENSG00000114646						141	120	127					3																	47610660		2203	4300	6503	CSPG5	SO:0001819	synonymous_variant	0			-	HGNC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1440C>T	3.37:g.47610660G>A		Somatic	0	90	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	13	70.45	Q71M39|Q71M40	Silent	SNP							pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.A480	ENST00000383738.2	37	c.1440	CCDS56253.1	3																																																																																			-	pfam_Neural_ProG_Cyt		0.498	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	protein_coding	OTTHUMT00000257489.1	G	NM_006574	-		47610660	-1	no_errors	ENST00000383738	ensembl	human	known	74_37	silent	SNP	0.959	A	A	47610660	G	A	47610660	2	1	104	1	0	0	0	0	0	0	0	1	3963	1103	39	1		1	CSPG5	3	47610660	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	1613910	47610660	150411770	10	6779											
COPB2	9276	genome.wustl.edu	37	chr3	139085946	139085946	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaatgaagcaatcgcctacCcaaagccctgttttcacaat	5	12	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:139085946C>G	ENST00000333188.5	-	14	1768	c.1587G>C	c.(1585-1587)tgG>tgC	p.W529C	COPB2_ENST00000507777.1_Missense_Mutation_p.W500C	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	529					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AATCGCCTACCCAAAGCCCTG	0.368																																																	0								ENSG00000184432						88	93	91					3																	139085946		2203	4300	6503	COPB2	SO:0001583	missense	0			-	HGNC	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1587G>C	3.37:g.139085946C>G	ENSP00000329419:p.Trp529Cys	Somatic	0	122	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	80	23.81	B4DZI8	Missense_Mutation	SNP							pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W529C	ENST00000333188.5	37	c.1587	CCDS3108.1	3	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117026	0.77323	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.89875	-1.19;-2.58	5.73	5.73	0.89815	Coatomer, WD associated region (1);	0.106321	0.64402	D	0.000001	D	0.96670	0.8913	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97424	1.0011	10	0.87932	D	0	-17.5309	19.8804	0.96895	0.0:1.0:0.0:0.0	.	529	P35606	COPB2_HUMAN	C	529;500;152	ENSP00000329419:W529C;ENSP00000422295:W500C	ENSP00000329419:W529C	W	-	3	0	COPB2	140568636	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.743000	0.85020	2.702000	0.92279	0.467000	0.42956	TGG	-	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg		0.368	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	protein_coding	OTTHUMT00000358495.2	C	NM_004766	-		139085946	-1	no_errors	ENST00000333188	ensembl	human	known	74_37	missense	SNP	1.000	G	G	139085946	C	G	139085946	3	3	104	1	0	0	0	0	1	0	0	0	3731	624	22	4	1169	4	COPB2	3	139085946	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	91475286	139085946	58936484	11	6780											
COPB2	9276	genome.wustl.edu	37	chr3	139087001	139087001	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattacctcaaaggcatcttCaatgccatcttcagtaactc	4	12	5	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:139087001C>G	ENST00000333188.5	-	13	1712	c.1531G>C	c.(1531-1533)Gaa>Caa	p.E511Q	COPB2_ENST00000507777.1_Missense_Mutation_p.E482Q	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	511					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AAGGCATCTTCAATGCCATCT	0.348																																																	0								ENSG00000184432						130	122	125					3																	139087001		2203	4300	6503	COPB2	SO:0001583	missense	0			-	HGNC	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1531G>C	3.37:g.139087001C>G	ENSP00000329419:p.Glu511Gln	Somatic	0	58	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	59	21.05	B4DZI8	Missense_Mutation	SNP							pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E511Q	ENST00000333188.5	37	c.1531	CCDS3108.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.317116	0.95682	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.90133	-0.31;-2.62	5.97	5.97	0.96955	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	H	0.95437	3.67	0.80722	D	1	D	0.60575	0.988	D	0.71656	0.974	D	0.97392	0.9990	10	0.87932	D	0	-17.4844	20.4062	0.99009	0.0:1.0:0.0:0.0	.	511	P35606	COPB2_HUMAN	Q	511;482;134	ENSP00000329419:E511Q;ENSP00000422295:E482Q	ENSP00000329419:E511Q	E	-	1	0	COPB2	140569691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	2.831000	0.97527	0.655000	0.94253	GAA	-	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg		0.348	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	protein_coding	OTTHUMT00000358495.2	C	NM_004766	-		139087001	-1	no_errors	ENST00000333188	ensembl	human	known	74_37	missense	SNP	1.000	G	G	139087001	C	G	139087001	3	3	104	1	0	0	0	0	1	0	0	0	3731	835	29	4	1229	4	COPB2	3	139087001	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	1055	139087001	58935429	12	6781											
HTR3C	170572	genome.wustl.edu	37	chr3	183776228	183776228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagtggacagcatgctGctgggcatggacaaggaggt	15	9	0	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:183776228G>A	ENST00000318351.1	+	6	607	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	191					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ACAGCATGCTGCTGGGCATGG	0.582																																																	0								ENSG00000178084						79	67	71					3																	183776228		2203	4300	6503	HTR3C	SO:0001819	synonymous_variant	0			-	HGNC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.573G>A	3.37:g.183776228G>A		Somatic	0	51	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A2RRR5	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.L191	ENST00000318351.1	37	c.573	CCDS3250.1	3																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	protein_coding	OTTHUMT00000346296.1	G	NM_130770	-		183776228	1	no_errors	ENST00000318351	ensembl	human	known	74_37	silent	SNP	0.000	A	A	183776228	G	A	183776228	2	1	104	1	0	0	0	0	0	0	0	1	7448	1306	46	2		2	HTR3C	3	183776228	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	44689227	183776228	14246202	13	6782											
EVC2	132884	genome.wustl.edu	37	chr4	5642395	5642395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtatttcattttccAgcaatagaaactgctttttg	5	9	2	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:5642395A>G	ENST00000344408.5	-	10	1369	c.1316T>C	c.(1315-1317)cTg>cCg	p.L439P	EVC2_ENST00000344938.1_Missense_Mutation_p.L439P|EVC2_ENST00000310917.2_Missense_Mutation_p.L359P	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	439					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCATTTTCCAGCAATAGAAA	0.433																																																	0								ENSG00000173040						227	215	219					4																	5642395		2203	4300	6503	EVC2	SO:0001583	missense	0			-	HGNC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1316T>C	4.37:g.5642395A>G	ENSP00000342144:p.Leu439Pro	Somatic	0	47	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP							pfam_Limbin	p.L439P	ENST00000344408.5	37	c.1316	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454354	0.43634	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.83837	-1.77;-1.77;-1.77	4.25	3.01	0.34805	.	0.554792	0.18730	N	0.132758	D	0.88551	0.6467	M	0.65975	2.015	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	D	0.87120	0.2190	10	0.72032	D	0.01	-13.2252	10.1268	0.42654	0.8313:0.1687:0.0:0.0	.	439	Q86UK5	LBN_HUMAN	P	439;359;439	ENSP00000339954:L439P;ENSP00000311683:L359P;ENSP00000342144:L439P	ENSP00000311683:L359P	L	-	2	0	EVC2	5693296	0.996000	0.38824	0.979000	0.43373	0.516000	0.34256	3.935000	0.56560	0.569000	0.29329	0.482000	0.46254	CTG	-	pfam_Limbin		0.433	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	protein_coding	OTTHUMT00000289822.2	A	NM_147127	-		5642395	-1	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	SNP	0.909	G	G	5642395	A	G	5642395	3	3	104	1	0	0	0	0	1	0	0	0	5288	188	7	5	2662	5	EVC2	4	5642395	Missense_Mutation	SNP	A	TCGA-DX-A8BR-01A-11D-A417-09		5642395	185511881	14	6783											
C4orf22	255119	genome.wustl.edu	37	chr4	81791167	81791167	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgatctttattcgtgaCagaaattctcatgggcaaga	9	8	2	4			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:81791167C>G	ENST00000358105.3	+	4	403	c.354C>G	c.(352-354)gaC>gaG	p.D118E	C4orf22_ENST00000508675.1_Missense_Mutation_p.D135E	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	118										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTATTCGTGACAGAAATTCTC	0.363																																																	0								ENSG00000197826						106	108	108					4																	81791167		2203	4300	6503	C4orf22	SO:0001583	missense	0			-	HGNC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.354C>G	4.37:g.81791167C>G	ENSP00000350818:p.Asp118Glu	Somatic	0	62	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP							NULL	p.D135E	ENST00000358105.3	37	c.405	CCDS3587.1	4	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104416	0.37145	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.31510	1.49;1.49	4.77	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.91090	3.175	0.31966	N	0.607824	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.948	T	0.65096	-0.6251	10	0.34782	T	0.22	-14.6608	6.9769	0.24681	0.0:0.725:0.0:0.275	.	135;118	E7EQ13;Q6V702	.;CD022_HUMAN	E	118;135	ENSP00000350818:D118E;ENSP00000425786:D135E	ENSP00000350818:D118E	D	+	3	2	C4orf22	82010191	0.996000	0.38824	0.998000	0.56505	0.120000	0.20174	1.129000	0.31381	1.120000	0.41904	0.585000	0.79938	GAC	-	NULL		0.363	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	protein_coding	OTTHUMT00000252629.2	C	NM_152770	-		81791167	1	no_errors	ENST00000508675	ensembl	human	known	74_37	missense	SNP	0.999	G	G	81791167	C	G	81791167	3	3	104	1	0	0	0	0	1	0	0	0	2257	477	17	4	368	4	C4orf22	4	81791167	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	76148772	81791167	109363109	15	6784											
UNC5C	8633	genome.wustl.edu	37	chr4	96091480	96091480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcaaatcgatgccagtagGttcctgtagttcagggacag	13	9	1	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:96091480G>T	ENST00000453304.1	-	15	2803	c.2455C>A	c.(2455-2457)Cct>Act	p.P819T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	819					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATGCCAGTAGGTTCCTGTAGT	0.498																																																	0								ENSG00000182168						117	109	112					4																	96091480		2203	4300	6503	UNC5C	SO:0001583	missense	0			-	HGNC	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2455C>A	4.37:g.96091480G>T	ENSP00000406022:p.Pro819Thr	Somatic	0	49	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q8IUT0	Missense_Mutation	SNP							pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P819T	ENST00000453304.1	37	c.2455	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	G	6.664	0.491069	0.12702	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.49432	0.78	5.64	5.64	0.86602	.	0.303719	0.37012	N	0.002286	T	0.34716	0.0907	N	0.19112	0.55	0.80722	D	1	B	0.20164	0.042	B	0.16289	0.015	T	0.14896	-1.0456	10	0.11485	T	0.65	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	819	O95185	UNC5C_HUMAN	T	819;778	ENSP00000406022:P819T	ENSP00000328673:P778T	P	-	1	0	UNC5C	96310503	1.000000	0.71417	0.994000	0.49952	0.688000	0.40055	4.493000	0.60341	2.937000	0.99478	0.650000	0.86243	CCT	-	NULL		0.498	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	protein_coding	OTTHUMT00000253607.1	G	NM_003728	-		96091480	-1	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	SNP	0.985	T	T	96091480	G	T	96091480	3	4	104	1	0	0	0	0	1	0	0	0	17000	1261	44	3	348	3	UNC5C	4	96091480	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	14300313	96091480	95062796	16	6785											
MTTP	4547	genome.wustl.edu	37	chr4	100515985	100515985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagttgattcaaagtacaCggccattcccattgtggggc	11	10	1	1	rs566965111		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:100515985C>T	ENST00000265517.5	+	7	1057	c.854C>T	c.(853-855)aCg>aTg	p.T285M	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.T285M|MTTP_ENST00000511045.1_Missense_Mutation_p.T312M			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	285	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCAAAGTACACGGCCATTCCC	0.468																																																	0								ENSG00000138823						115	105	108					4																	100515985		2203	4300	6503	MTTP	SO:0001583	missense	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.854C>T	4.37:g.100515985C>T	ENSP00000265517:p.Thr285Met	Somatic	0	67	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP							pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.T285M	ENST00000265517.5	37	c.854	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583000	0.13749	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.70516	-0.49;-0.49;-0.49	4.96	-7.08	0.01558	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (1);	0.904197	0.09806	N	0.753430	T	0.51363	0.1670	L	0.44542	1.39	0.09310	N	1	P;P	0.47034	0.889;0.711	B;B	0.42798	0.398;0.224	T	0.46400	-0.9194	10	0.33141	T	0.24	-34.9419	0.9275	0.01327	0.3762:0.1045:0.1805:0.3389	.	312;285	E9PBP6;P55157	.;MTP_HUMAN	M	312;285;285;285	ENSP00000427679:T312M;ENSP00000400821:T285M;ENSP00000265517:T285M	ENSP00000265517:T285M	T	+	2	0	MTTP	100735008	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.222000	0.09190	-1.087000	0.03081	0.563000	0.77884	ACG	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.468	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	C		-		100515985	1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	SNP	0.000	T	T	100515985	C	T	100515985	3	4	104	1	0	0	0	0	1	0	0	0	9966	536	19	1	880	1	MTTP	4	100515985	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	4424505	100515985	90638291	17	6786											
ODZ3	55714	genome.wustl.edu	37	chr4	183522238	183522238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccggctgctttgcccgccGagctgcaaaccacacccgag	11	18	0	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:183522238G>A	ENST00000511685.1	+	4	796	c.673G>A	c.(673-675)Gag>Aag	p.E225K	TENM3_ENST00000406950.2_Missense_Mutation_p.E225K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	225	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										TTTGCCCGCCGAGCTGCAAAC	0.532																																																	0								ENSG00000218336						71	80	77					4																	183522238		1874	4104	5978	TENM3	SO:0001583	missense	0			-	HGNC	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.673G>A	4.37:g.183522238G>A	ENSP00000424226:p.Glu225Lys	Somatic	0	88	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	38	75.80	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E225K	ENST00000511685.1	37	c.673	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750736	0.69533	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.41758	0.99;0.99;0.99	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.33440	0.0863	L	0.29908	0.895	0.58432	D	0.999999	P	0.52061	0.95	B	0.37550	0.253	T	0.13308	-1.0514	9	0.44086	T	0.13	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	225	Q9P273	TEN3_HUMAN	K	225;225;83	ENSP00000424226:E225K;ENSP00000385276:E225K;ENSP00000426914:E83K	ENSP00000385276:E225K	E	+	1	0	ODZ3	183759232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.718000	0.92993	0.557000	0.71058	GAG	-	pfam_Ten_N		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	G		-		183522238	1	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	SNP	1.000	A	A	183522238	G	A	183522238	3	1	104	1	0	0	0	0	1	0	0	0	10838	1059	37	1	683	1	ODZ3	4	183522238	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	83006253	183522238	7632038	18	6787											
DNAH5	1767	genome.wustl.edu	37	chr5	13793644	13793644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagatcttgtccacagaaGcttcagagggcaacgtgcaa	10	10	2	3			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:13793644G>A	ENST00000265104.4	-	49	8308	c.8204C>T	c.(8203-8205)gCt>gTt	p.A2735V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2735	AAA 3. {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)					GTCCACAGAAGCTTCAGAGGG	0.468									Kartagener syndrome																																								0								ENSG00000039139						121	125	124					5																	13793644		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.8204C>T	5.37:g.13793644G>A	ENSP00000265104:p.Ala2735Val	Somatic	0	62	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2735V	ENST00000265104.4	37	c.8204	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333297	0.60853	.	.	ENSG00000039139	ENST00000265104	T	0.42131	0.98	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.106406	0.64402	D	0.000005	T	0.41719	0.1171	L	0.43923	1.385	0.80722	D	1	B	0.24576	0.106	B	0.27715	0.082	T	0.12192	-1.0557	10	0.33141	T	0.24	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2735	Q8TE73	DYH5_HUMAN	V	2735	ENSP00000265104:A2735V	ENSP00000265104:A2735V	A	-	2	0	DNAH5	13846644	1.000000	0.71417	0.921000	0.36526	0.435000	0.31806	7.857000	0.86963	2.792000	0.96026	0.557000	0.71058	GCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13793644	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	A	A	13793644	G	A	13793644	3	1	104	1	0	0	0	0	1	0	0	0	4606	971	34	2	5794	2	DNAH5	5	13793644	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		13793644	167121616	19	6788											
ACSL6	23305	genome.wustl.edu	37	chr5	131307262	131307262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcaccctagagctgccCggagaaatcccagaactgtt	10	14	0	3			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:131307262C>T	ENST00000379240.1	-	14	1493	c.1340G>A	c.(1339-1341)cGg>cAg	p.R447Q	ACSL6_ENST00000543479.1_Missense_Mutation_p.R447Q|ACSL6_ENST00000544770.1_Missense_Mutation_p.R356Q|ACSL6_ENST00000379264.2_Missense_Mutation_p.R472Q|ACSL6_ENST00000379272.2_Missense_Mutation_p.R462Q|ACSL6_ENST00000296869.4_Missense_Mutation_p.R472Q|ACSL6_ENST00000379255.1_Missense_Mutation_p.R372Q|ACSL6_ENST00000379246.1_Missense_Mutation_p.R458Q|ACSL6_ENST00000379244.1_Missense_Mutation_p.R447Q|ACSL6_ENST00000357096.1_Missense_Mutation_p.R372Q|ACSL6_ENST00000379249.3_Missense_Mutation_p.R447Q|ACSL6_ENST00000431707.1_Missense_Mutation_p.R427Q			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	447					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAGAGCTGCCCGGAGAAATCC	0.532																																																	0								ENSG00000164398						49	43	45					5																	131307262		2203	4300	6503	ACSL6	SO:0001583	missense	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1340G>A	5.37:g.131307262C>T	ENSP00000368542:p.Arg447Gln	Somatic	0	38	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.R472Q	ENST00000379240.1	37	c.1415		5	.	.	.	.	.	.	.	.	.	.	C	37	6.177548	0.97352	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.94	5.94	0.96194	AMP-dependent synthetase/ligase (1);	0.047916	0.85682	N	0.000000	T	0.61540	0.2355	M	0.72118	2.19	0.80722	D	1	P;D;D;P;D;D;D	0.61697	0.749;0.987;0.99;0.905;0.968;0.987;0.987	P;P;P;P;P;P;P	0.56088	0.469;0.791;0.723;0.604;0.556;0.791;0.697	T	0.63102	-0.6712	10	0.87932	D	0	.	20.4237	0.99064	0.0:1.0:0.0:0.0	.	447;462;437;447;372;472;472	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	Q	447;472;462;372;372;472;458;447;356;447;427;447	ENSP00000368551:R447Q;ENSP00000368566:R472Q;ENSP00000368574:R462Q;ENSP00000349608:R372Q;ENSP00000368557:R372Q;ENSP00000296869:R472Q;ENSP00000368548:R458Q;ENSP00000368546:R447Q;ENSP00000445154:R356Q;ENSP00000368542:R447Q;ENSP00000413329:R427Q;ENSP00000442124:R447Q	ENSP00000296869:R472Q	R	-	2	0	ACSL6	131335161	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.750000	0.85110	2.834000	0.97654	0.650000	0.86243	CGG	-	pfam_AMP-dep_Synth/Lig		0.532	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	C	NM_015256	-		131307262	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131307262	C	T	131307262	3	4	104	1	0	0	0	0	1	0	0	0	181	652	23	1	785	1	ACSL6	5	131307262	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	117513618	131307262	49607998	20	6789											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214124	140214124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcatcgcgcaggacctGgggctggagctggcggagct	19	12	0	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:140214124G>A	ENST00000525929.1	+	1	156	c.156G>A	c.(154-156)ctG>ctA	p.L52L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L52L|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	52	Cadherin 1. {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)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGACCTGGGGCTGGAGC	0.602																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						61	76	71					5																	140214124		2203	4300	6503	PCDHA7	SO:0001819	synonymous_variant	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.156G>A	5.37:g.140214124G>A		Somatic	0	100	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	48	30.43	O75282	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L52	ENST00000525929.1	37	c.156	CCDS54918.1	5																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.602	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	G	NM_018910	-		140214124	1	no_errors	ENST00000525929	ensembl	human	known	74_37	silent	SNP	0.998	A	A	140214124	G	A	140214124	2	1	104	1	0	0	0	0	0	0	0	1	11531	1335	47	2		2	PCDHA7	5	140214124	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	8906862	140214124	40701136	21	6790											
ITK	3702	genome.wustl.edu	37	chr5	156641307	156641307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcttgcaacaggctgtgCccaatatgatccaaccaaga	9	11	0	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:156641307C>T	ENST00000422843.3	+	4	583	c.431C>T	c.(430-432)gCc>gTc	p.A144V	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	144					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ACAGGCTGTGCCCAATATGAT	0.403			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0								ENSG00000113263						119	116	117					5																	156641307		2203	4300	6503	ITK	SO:0001583	missense	0			-	HGNC	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.431C>T	5.37:g.156641307C>T	ENSP00000398655:p.Ala144Val	Somatic	0	50	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R752|Q32ML7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A144V	ENST00000422843.3	37	c.431	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592023	0.46214	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;D	0.93712	-3.27;-3.27	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.457525	0.26373	N	0.024748	D	0.89949	0.6863	L	0.47716	1.5	0.30853	N	0.734395	B	0.09022	0.002	B	0.12156	0.007	D	0.85399	0.1130	10	0.33940	T	0.23	.	12.2927	0.54827	0.0:0.9188:0.0:0.0812	.	144	Q08881	ITK_HUMAN	V	19;144	ENSP00000430327:A19V;ENSP00000398655:A144V	ENSP00000398655:A144V	A	+	2	0	ITK	156573885	0.816000	0.29132	0.996000	0.52242	0.985000	0.73830	1.370000	0.34238	2.565000	0.86533	0.655000	0.94253	GCC	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif		0.403	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	protein_coding	OTTHUMT00000252569.2	C		-		156641307	1	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	SNP	0.829	T	T	156641307	C	T	156641307	3	4	104	1	0	0	0	0	1	0	0	0	7911	739	26	2	445	2	ITK	5	156641307	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	16427183	156641307	24273953	22	6791											
HIST1H2AC	8334	genome.wustl.edu	37	chr6	26124497	26124497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggaggcaaagctcgcGccaaagcgaaatcccgctct	11	13	1	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:26124497G>A	ENST00000602637.1	+	1	67	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A13T|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CAAAGCTCGCGCCAAAGCGAA	0.557																																																	0								ENSG00000180573						54	54	54					6																	26124497		2203	4300	6503	HIST1H2AC	SO:0001583	missense	0			-	HGNC	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.37G>A	6.37:g.26124497G>A	ENSP00000473534:p.Ala13Thr	Somatic	0	61	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP							pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.A13T	ENST00000602637.1	37	c.37	CCDS4585.1	6	.	.	.	.	.	.	.	.	.	.	.	21.3	4.131684	0.77662	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.44083	0.93;0.93	5.78	5.78	0.91487	Histone-fold (2);Histone H2A (1);	0.000000	0.44285	D	0.000478	T	0.17365	0.0417	N	0.21545	0.675	0.53005	D	0.999963	P	0.41546	0.754	B	0.28916	0.096	T	0.03555	-1.1025	10	0.40728	T	0.16	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	13	Q93077	H2A1C_HUMAN	T	13	ENSP00000367022:A13T;ENSP00000321389:A13T	ENSP00000321389:A13T	A	+	1	0	HIST1H2AC	26232476	1.000000	0.71417	0.332000	0.25469	0.097000	0.18754	9.565000	0.98154	2.894000	0.99253	0.591000	0.81541	GCC	-	superfamily_Histone-fold,smart_Histone_H2A		0.557	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	protein_coding	OTTHUMT00000468023.1	G	NM_003512	-		26124497	1	no_errors	ENST00000314088	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26124497	G	A	26124497	3	1	104	1	0	0	0	0	1	0	0	0	7132	1087	38	1	39	1	HIST1H2AC	6	26124497	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		26124497	144990570	23	6792											
MUC21	394263	genome.wustl.edu	37	chr6	30954828	30954828	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaattctgagtccagcacAccctccagtggggccaacac	8	16	1	1	rs41318569		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:30954828A>C	ENST00000376296.3	+	2	1117	c.876A>C	c.(874-876)acA>acC	p.T292T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	292	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTCCAGCACACCCTCCAGTG	0.602																																																	0								ENSG00000204544						199	191	193					6																	30954828		2203	4300	6503	MUC21	SO:0001819	synonymous_variant	0			-	HGNC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.876A>C	6.37:g.30954828A>C		Somatic	0	63	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP							NULL	p.T292	ENST00000376296.3	37	c.876	CCDS34388.1	6																																																																																			-	NULL		0.602	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	A	NM_001010909	-		30954828	1	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	SNP	0.000	C	C	30954828	A	C	30954828	2	2	104	1	0	0	0	0	0	0	0	1	9979	146	6	5		5	MUC21	6	30954828	Silent	SNP	A	TCGA-DX-A8BR-01A-11D-A417-09	4830331	30954828	140160239	24	6793											
HSP90AB1	3326	genome.wustl.edu	37	chr6	44221273	44221273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aggaacccaatgctgcagttCctgatgagatcccccctctc	8	15	1	2	rs559392885		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:44221273C>G	ENST00000371554.1	+	12	2327	c.2113C>G	c.(2113-2115)Cct>Gct	p.P705A	MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.P705A|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.P705A|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	705					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCAGTTCCTGATGAGAT	0.453											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000096384						78	79	79					6																	44221273		2203	4300	6503	HSP90AB1	SO:0001583	missense	0			-	HGNC	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2113C>G	6.37:g.44221273C>G	ENSP00000360609:p.Pro705Ala	Somatic	0	49	0	922	0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP							pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.P705A	ENST00000371554.1	37	c.2113	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	C	9.258	1.042520	0.19748	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.08193	3.12;3.12;3.12	3.91	3.91	0.45181	.	0.082718	0.49916	U	0.000126	T	0.01029	0.0034	N	0.02751	-0.505	0.58432	D	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.46911	-0.9157	10	0.12766	T	0.61	-14.7569	7.2382	0.26082	0.0:0.733:0.1736:0.0933	.	667;695;705	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	A	705	ENSP00000360709:P705A;ENSP00000325875:P705A;ENSP00000360609:P705A	ENSP00000325875:P705A	P	+	1	0	HSP90AB1	44329251	0.996000	0.38824	1.000000	0.80357	0.825000	0.46686	1.855000	0.39378	2.188000	0.69820	0.609000	0.83330	CCT	-	pfam_Hsp90_fam,pirsf_Hsp90_fam		0.453	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	protein_coding	OTTHUMT00000040730.1	C	NM_007355	-		44221273	1	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	SNP	1.000	G	G	44221273	C	G	44221273	3	3	104	1	0	0	0	0	1	0	0	0	7404	855	30	4	2155	4	HSP90AB1	6	44221273	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	13266445	44221273	126893794	25	6794											
PRSS35	167681	genome.wustl.edu	37	chr6	84234189	84234189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatactgcgatgctgagtcGggctccaccggttcgggggt	15	11	0	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:84234189G>A	ENST00000369700.3	+	2	1206	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	PRSS35_ENST00000536636.1_Silent_p.S343S	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	343	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)		ATGCTGAGTCGGGCTCCACCG	0.502																																																	0								ENSG00000146250						102	103	102					6																	84234189		2203	4300	6503	PRSS35	SO:0001819	synonymous_variant	0			-	HGNC	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.1029G>A	6.37:g.84234189G>A		Somatic	0	51	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A8K7B3|Q9BQP6	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.S343	ENST00000369700.3	37	c.1029	CCDS4999.1	6																																																																																			-	superfamily_Trypsin-like_Pept_dom		0.502	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	protein_coding	OTTHUMT00000041352.1	G	NM_153362	-		84234189	1	no_errors	ENST00000369700	ensembl	human	known	74_37	silent	SNP	0.111	A	A	84234189	G	A	84234189	2	1	104	1	0	0	0	0	0	0	0	1	12629	1103	39	1		1	PRSS35	6	84234189	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	40012916	84234189	86880878	26	6795											
AIM1	202	genome.wustl.edu	37	chr6	106967377	106967377	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agagattctgccagcaaccaGaggaatgaatggagactctt	11	8	2	4			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:106967377G>C	ENST00000369066.3	+	2	1557	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCAGCAACCAGAGGAATGAAT	0.448																																																	0								ENSG00000112297						85	96	92					6																	106967377		2203	4300	6503	AIM1	SO:0001583	missense	0			-	HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1070G>C	6.37:g.106967377G>C	ENSP00000358062:p.Arg357Thr	Somatic	0	16	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	Q6P2P0|Q9BTM3	Missense_Mutation	SNP							pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R357T	ENST00000369066.3	37	c.1070	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254913	0.22965	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71341	-0.56	3.21	2.33	0.28932	.	1.915270	0.02875	N	0.132160	T	0.34454	0.0898	L	0.29908	0.895	0.25480	N	0.987746	P	0.37466	0.596	B	0.31869	0.137	T	0.20009	-1.0288	10	0.14252	T	0.57	.	9.1448	0.36925	0.1068:0.0:0.8932:0.0	.	357	Q9Y4K1	AIM1_HUMAN	T	765;357	ENSP00000358062:R357T	ENSP00000285105:R765T	R	+	2	0	AIM1	107074070	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.070000	0.11523	0.920000	0.36970	0.655000	0.94253	AGA	-	NULL		0.448	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G		-		106967377	1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	SNP	0.003	C	C	106967377	G	C	106967377	3	2	104	1	0	0	0	0	1	0	0	0	430	942	33	4	1076	4	AIM1	6	106967377	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	22733188	106967377	64147690	27	6796			1	62		3	3	898	G		1.993791e-06
AIM1	202	genome.wustl.edu	37	chr6	106967940	106967940	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgagtgtccatccagaGtcctcgtccaggtcaggtcc	12	12	1	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:106967940G>C	ENST00000369066.3	+	2	2120	c.1633G>C	c.(1633-1635)Gtc>Ctc	p.V545L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCCATCCAGAGTCCTCGTCCA	0.532																																																	0								ENSG00000112297						63	65	65					6																	106967940		2203	4300	6503	AIM1	SO:0001583	missense	0			-	HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1633G>C	6.37:g.106967940G>C	ENSP00000358062:p.Val545Leu	Somatic	0	62	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q6P2P0|Q9BTM3	Missense_Mutation	SNP							pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V545L	ENST00000369066.3	37	c.1633	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478075	0.84747	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.78481	-1.18	6.17	6.17	0.99709	.	0.575334	0.14526	N	0.314173	D	0.83344	0.5234	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.79264	-0.1875	10	0.36615	T	0.2	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	545	Q9Y4K1	AIM1_HUMAN	L	953;545	ENSP00000358062:V545L	ENSP00000285105:V953L	V	+	1	0	AIM1	107074633	1.000000	0.71417	0.995000	0.50966	0.668000	0.39293	2.143000	0.42187	2.941000	0.99782	0.655000	0.94253	GTC	-	NULL		0.532	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G		-		106967940	1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	SNP	0.994	C	C	106967940	G	C	106967940	3	2	104	1	0	0	0	0	1	0	0	0	430	1029	36	4	1639	4	AIM1	6	106967940	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	563	106967940	64147127	28	6797			1	62		3	3	898	G		1.993791e-06
AIM1	202	genome.wustl.edu	37	chr6	106968274	106968274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccaactctcccagcagcgGaaatcacttagccactcctc	5	18	2	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:106968274G>A	ENST00000369066.3	+	2	2454	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCCAGCAGCGGAAATCACTTA	0.517																																																	0								ENSG00000112297						51	49	50					6																	106968274		2203	4300	6503	AIM1	SO:0001583	missense	0			-	HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1967G>A	6.37:g.106968274G>A	ENSP00000358062:p.Gly656Glu	Somatic	0	21	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q6P2P0|Q9BTM3	Missense_Mutation	SNP							pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G656E	ENST00000369066.3	37	c.1967	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319058	0.23994	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.70282	-0.47	5.45	3.34	0.38264	.	1.007710	0.07983	N	0.985969	T	0.30510	0.0767	L	0.29908	0.895	0.09310	N	0.999994	B	0.20261	0.043	B	0.19946	0.027	T	0.31888	-0.9927	10	0.02654	T	1	.	8.5241	0.33293	0.205:0.0:0.795:0.0	.	656	Q9Y4K1	AIM1_HUMAN	E	1064;656	ENSP00000358062:G656E	ENSP00000285105:G1064E	G	+	2	0	AIM1	107074967	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.040000	0.13905	1.309000	0.44985	0.655000	0.94253	GGA	-	NULL		0.517	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G		-		106968274	1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	SNP	0.001	A	A	106968274	G	A	106968274	3	1	104	1	0	0	0	0	1	0	0	0	430	1174	41	2	1973	2	AIM1	6	106968274	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	334	106968274	64146793	29	6798			1	62		3	3	898	G		1.993791e-06
LAMA2	3908	genome.wustl.edu	37	chr6	129833555	129833555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtagaatttgaattcCgcacaactacaacgactgga	7	9	1	2	rs374888837		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:129833555C>T	ENST00000421865.2	+	63	8954	c.8905C>T	c.(8905-8907)Cgc>Tgc	p.R2969C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2969	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.			R -> A (in Ref. 1; CAA81394 and 2; AAB18388). {ECO:0000305}.	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)			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)		ATTTGAATTCCGCACAACTAC	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		18846	0		0	False		,,,				2504	0																0								ENSG00000196569	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	142	139	140		8905,8893	4.9	1	6		140	0,8600		0,0,4300	no	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2969/3123,2965/3119	129833555	1,13005	2203	4300	6503	LAMA2	SO:0001583	missense	0			-	HGNC	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.8905C>T	6.37:g.129833555C>T	ENSP00000400365:p.Arg2969Cys	Somatic	0	114	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	59	39.18	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2969C	ENST00000421865.2	37	c.8905	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938126	0.73557	2.27E-4	0.0	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.55930	0.49	5.73	4.87	0.63330	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	T	0.75339	0.3836	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83883	0.0280	9	.	.	.	.	14.7432	0.69472	0.0:0.9308:0.0:0.0692	.	2970;2969	A6NF00;P24043	.;LAMA2_HUMAN	C	2969;2968;2969;987	ENSP00000400365:R2969C	.	R	+	1	0	LAMA2	129875248	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.811000	0.75221	1.439000	0.47511	0.655000	0.94253	CGC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	C		-		129833555	1	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129833555	C	T	129833555	3	4	104	1	0	0	0	0	1	0	0	0	8608	652	23	1	9155	1	LAMA2	6	129833555	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	22865281	129833555	41281512	30	6799											
PDE1C	5137	genome.wustl.edu	37	chr7	31864525	31864525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtttgagaggtttcatcGattaatggactcacaatctt	8	8	3	1	rs564932801		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr7:31864525G>A	ENST00000396191.1	-	13	1817	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PDE1C_ENST00000321453.7_Silent_p.I454I|PDE1C_ENST00000396193.1_Silent_p.I514I|PDE1C_ENST00000396182.2_Silent_p.I454I|PDE1C_ENST00000396184.3_Silent_p.I454I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	454	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGGTTTCATCGATTAATGGAC	0.498													G|||	1	0.000199681	0	0	5008	,	,		20028	0		0	False		,,,				2504	0.001																0								ENSG00000154678						185	155	165					7																	31864525		2203	4300	6503	PDE1C	SO:0001819	synonymous_variant	0			-	HGNC	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1362C>T	7.37:g.31864525G>A		Somatic	0	56	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	15	55.88	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.I454	ENST00000396191.1	37	c.1362	CCDS55099.1	7																																																																																			-	pfam_PDEase_catalytic_dom		0.498	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	G		-		31864525	-1	no_errors	ENST00000321453	ensembl	human	known	74_37	silent	SNP	0.834	A	A	31864525	G	A	31864525	2	1	104	1	0	0	0	0	0	0	0	1	11637	1048	37	1		1	PDE1C	7	31864525	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		31864525	127274138	31	6800											
FBXL6	26233	genome.wustl.edu	37	chr8	145581100	145581100	+	Splice_Site	DEL	T	T	-													gacagcctggagctctcaccTtcaacacggggtgtacctga							TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr8:145581100delT	ENST00000331890.5	-	3	702	c.638delA	c.(637-639)aag>ag	p.K213fs	TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000455319.2_Intron|SLC52A2_ENST00000530047.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	213					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTCTCACCTTCAACACGGG	0.587																																																	0								ENSG00000182325						96	79	85					8																	145581100		2200	4298	6498	FBXL6	SO:0001630	splice_region_variant	0				HGNC	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.639+1A>-	8.37:g.145581100delT		Somatic	0	17	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q53G43|Q9H5W9|Q9UKC7	Frame_Shift_Del	DEL							superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.K213fs	ENST00000331890.5	37	c.638	CCDS6422.1	8																																																																																			-	NULL		0.587	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL6	protein_coding	OTTHUMT00000382413.1	T	NM_024555		Frame_Shift_Del	145581100	-1	no_errors	ENST00000331890	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	145581100	T	-	145581100	8	5	104	1	0	1	0	1	0	0	1	0	5725	1623	56	0	1009	0	FBXL6	8	145581100	Splice_Site	DEL	T	TCGA-DX-A8BR-01A-11D-A417-09		145581100	782922	32	6801											
WNK2	65268	genome.wustl.edu	37	chr9	96061384	96061384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccagcagaggccctcccGctaaggaccctgcccaagcc	9	19	0	1	rs147749673		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr9:96061384G>A	ENST00000297954.4	+	25	6067	c.6067G>A	c.(6067-6069)Gct>Act	p.A2023T	WNK2_ENST00000395477.2_Missense_Mutation_p.A1986T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1598T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Missense_Mutation_p.A348T|WNK2_ENST00000349097.3_Missense_Mutation_p.A1635T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2023					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGGCCCTCCCGCTAAGGACCC	0.697																																																	0								ENSG00000165238	G	THR/ALA	1,4391		0,1,2195	22	23	22		5956	3.5	1	9	dbSNP_134	22	0,8580		0,0,4290	no	missense	WNK2	NM_006648.3	58	0,1,6485	AA,AG,GG		0.0,0.0228,0.0077	benign	1986/2218	96061384	1,12971	2196	4290	6486	WNK2	SO:0001583	missense	0			-	HGNC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6067G>A	9.37:g.96061384G>A	ENSP00000297954:p.Ala2023Thr	Somatic	0	59	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.86	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A2023T	ENST00000297954.4	37	c.6067		9	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518380	0.44763	2.28E-4	0.0	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	T;T;T;T;D	0.83506	-0.54;-0.52;0.08;0.09;-1.73	5.54	3.48	0.39840	.	0.582952	0.16714	N	0.202552	T	0.71187	0.3310	L	0.50333	1.59	0.23820	N	0.996755	P;P;B;P	0.49185	0.865;0.92;0.333;0.9	B;B;B;B	0.35278	0.199;0.153;0.071;0.106	T	0.60601	-0.7231	10	0.18276	T	0.48	.	7.9022	0.29742	0.0772:0.1112:0.6864:0.1251	.	1986;1981;1986;2023	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2023;1986;1635;1598;348	ENSP00000297954:A2023T;ENSP00000378860:A1986T;ENSP00000297876:A1635T;ENSP00000411181:A1598T;ENSP00000348347:A348T	ENSP00000297954:A2023T	A	+	1	0	WNK2	95101205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.473000	0.45145	1.312000	0.45043	0.655000	0.94253	GCT	-	NULL		0.697	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	G	NM_006648	rs147749673		96061384	1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	SNP	0.998	A	A	96061384	G	A	96061384	3	1	104	1	0	0	0	0	1	0	0	0	17385	1087	38	1	6050	1	WNK2	9	96061384	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		96061384	45152047	33	6802											
FAM78A	286336	genome.wustl.edu	37	chr9	134136629	134136629	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccctcttggtggggcccacGatggtgcaggtctctgtggt	15	11	2	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr9:134136629G>T	ENST00000372271.3	-	2	799	c.432C>A	c.(430-432)atC>atA	p.I144I	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Silent_p.I141I	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	144										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGGGCCCACGATGGTGCAGG	0.602																																																	0								ENSG00000126882						91	83	86					9																	134136629		2203	4300	6503	FAM78A	SO:0001819	synonymous_variant	0			-	HGNC	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.432C>A	9.37:g.134136629G>T		Somatic	0	25	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q86VQ9|Q9H7P4	Silent	SNP							NULL	p.I144	ENST00000372271.3	37	c.432	CCDS6941.2	9																																																																																			-	NULL		0.602	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	protein_coding	OTTHUMT00000054720.1	G	NM_033387	-		134136629	-1	no_errors	ENST00000372271	ensembl	human	known	74_37	silent	SNP	0.986	T	T	134136629	G	T	134136629	2	4	104	1	0	0	0	0	0	0	0	1	5628	1048	37	3		3	FAM78A	9	134136629	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	38075245	134136629	7076802	34	6803											
ITIH5	80760	genome.wustl.edu	37	chr10	7657968	7657968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtttggttcccaccaTagaagcactgctgtcaagca	10	12	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:7657968T>C	ENST00000256861.6	-	7	994	c.916A>G	c.(916-918)Atg>Gtg	p.M306V	ITIH5_ENST00000397146.2_Missense_Mutation_p.M306V|ITIH5_ENST00000446830.2_Missense_Mutation_p.M88V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.M92V|ITIH5_ENST00000397145.2_Missense_Mutation_p.M306V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTCCCACCATAGAAGCACTG	0.478																																																	0								ENSG00000123243						124	116	119					10																	7657968		2203	4300	6503	ITIH5	SO:0001583	missense	0			-	HGNC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.916A>G	10.37:g.7657968T>C	ENSP00000256861:p.Met306Val	Somatic	0	95	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	22	53.19	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.M306V	ENST00000256861.6	37	c.916		10	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216075	0.79352	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	6.08	6.08	0.98989	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	.	.	.	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.987;0.957	D	0.92399	0.5928	9	0.87932	D	0	-58.5449	16.3164	0.82930	0.0:0.0:0.0:1.0	.	306;306;92	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	V	306;306;92;88;306	ENSP00000256861:M306V;ENSP00000380333:M306V;ENSP00000298441:M92V;ENSP00000387969:M88V;ENSP00000380332:M306V	ENSP00000256861:M306V	M	-	1	0	ITIH5	7697974	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.477000	0.81069	2.330000	0.79161	0.533000	0.62120	ATG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.478	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	T	NM_030569	-		7657968	-1	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7657968	T	C	7657968	3	2	104	1	0	0	0	0	1	0	0	0	7909	1406	49	5	2067	5	ITIH5	10	7657968	Missense_Mutation	SNP	T	TCGA-DX-A8BR-01A-11D-A417-09		7657968	127876779	35	6804											
BMS1	9790	genome.wustl.edu	37	chr10	43285807	43285807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccagctttgggtttgaaAtggaaacgtttgagtttcta	11	5	1	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:43285807A>G	ENST00000374518.5	+	5	547	c.484A>G	c.(484-486)Atg>Gtg	p.M162V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	162	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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						TGGGTTTGAAATGGAAACGTT	0.393																																																	0								ENSG00000165733						144	144	144					10																	43285807		2203	4298	6501	BMS1	SO:0001583	missense	0			-	HGNC	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.484A>G	10.37:g.43285807A>G	ENSP00000363642:p.Met162Val	Somatic	0	349	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	178	31.27	Q5QPT5|Q86XJ9	Missense_Mutation	SNP							pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.M162V	ENST00000374518.5	37	c.484	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	a	22.2	4.253865	0.80135	.	.	ENSG00000165733	ENST00000374518	T	0.10763	2.84	5.28	5.28	0.74379	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.74258	2.255	0.54753	D	0.999985	D	0.54772	0.968	P	0.60886	0.88	T	0.01839	-1.1263	10	0.42905	T	0.14	.	15.3524	0.74399	1.0:0.0:0.0:0.0	.	162	Q14692	BMS1_HUMAN	V	162	ENSP00000363642:M162V	ENSP00000363642:M162V	M	+	1	0	BMS1	42605813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.030000	0.59900	0.402000	0.26972	ATG	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	A	NM_014753	-		43285807	1	no_errors	ENST00000374518	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43285807	A	G	43285807	3	3	104	1	0	0	0	0	1	0	0	0	1472	101	4	5	498	5	BMS1	10	43285807	Missense_Mutation	SNP	A	TCGA-DX-A8BR-01A-11D-A417-09	35627839	43285807	92248940	36	6805											
NEURL	9148	genome.wustl.edu	37	chr10	105349291	105349291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccactatcctggccgagCggggtatcccatcactcccc	9	18	1	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:105349291C>T	ENST00000369780.4	+	5	1769	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	NEURL_ENST00000369777.2_Missense_Mutation_p.R437W|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		454					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTGGCCGAGCGGGGTATCCC	0.652																																																	0								ENSG00000107954						51	53	53					10																	105349291		2203	4300	6503	NEURL	SO:0001583	missense	0			-	HGNC																												ENST00000369780.4:c.1360C>T	10.37:g.105349291C>T	ENSP00000358795:p.Arg454Trp	Somatic	0	74	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	70	23.66	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP							pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.R454W	ENST00000369780.4	37	c.1360	CCDS7551.1	10	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494298	0.64186	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	4.94	4.04	0.47022	.	0.432209	0.25416	N	0.030840	T	0.47710	0.1460	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	B	0.43575	0.424	T	0.45687	-0.9244	9	0.38643	T	0.18	-17.9193	12.6368	0.56687	0.3011:0.6989:0.0:0.0	.	454	O76050	NEU1A_HUMAN	W	454;437	.	ENSP00000358792:R437W	R	+	1	2	NEURL	105339281	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	1.945000	0.40273	1.093000	0.41377	-0.226000	0.12346	CGG	-	NULL		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	protein_coding	OTTHUMT00000050170.1	C		-		105349291	1	no_errors	ENST00000369780	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105349291	C	T	105349291	3	4	104	1	0	0	0	0	1	0	0	0	10347	759	27	1	1378	1	NEURL	10	105349291	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	62063484	105349291	30185456	37	6806											
SNX32	254122	genome.wustl.edu	37	chr11	65620753	65620753	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtttctcctctgcagGccagcaccctgattctccgg	9	16	3	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:65620753G>A	ENST00000308342.6	+	13	1584	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	387					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TCCTCTGCAGGCCAGCACCCT	0.582																																																	0								ENSG00000172803						112	114	113					11																	65620753		2201	4297	6498	SNX32	SO:0001630	splice_region_variant	0			-	HGNC	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1159-1G>A	11.37:g.65620753G>A		Somatic	0	25	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q8IW53|Q96NG4	Missense_Mutation	SNP							pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.A387T	ENST00000308342.6	37	c.1159	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353664	0.24512	.	.	ENSG00000172803	ENST00000308342	T	0.18502	2.21	4.46	0.876	0.19138	.	0.517985	0.16159	N	0.226888	T	0.10508	0.0257	L	0.31664	0.95	0.33761	D	0.621882	B	0.22346	0.068	B	0.22386	0.039	T	0.27640	-1.0068	9	.	.	.	-9.0848	6.7964	0.23727	0.3324:0.0:0.6676:0.0	.	387	Q86XE0	SNX32_HUMAN	T	387	ENSP00000310620:A387T	.	A	+	1	0	SNX32	65377329	1.000000	0.71417	0.986000	0.45419	0.845000	0.48019	1.265000	0.33027	-0.007000	0.14345	-0.258000	0.10820	GCC	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.582	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	protein_coding	OTTHUMT00000250295.3	G	NM_152760	-	Missense_Mutation	65620753	1	no_errors	ENST00000308342	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65620753	G	A	65620753	5	1	104	1	0	0	0	0	0	0	1	0	14910	1217	42	2	1209	2	SNX32	11	65620753	Splice_Site	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		65620753	69385763	38	6807											
C11orf59	55004	genome.wustl.edu	37	chr11	71809346	71809346	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtctcacctgctgcaaatCagagaacgggatgggctcac	12	11	3	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:71809346C>T	ENST00000278671.5	-	4	544	c.382G>A	c.(382-384)Gat>Aat	p.D128N	LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.D128N|LAMTOR1_ENST00000539797.1_5'UTR|LAMTOR1_ENST00000538404.1_Missense_Mutation_p.D128N	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	128	Interaction with LAMTOR2 and LAMTOR3. {ECO:0000250}.				cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						TGCTGCAAATCAGAGAACGGG	0.622																																																	0								ENSG00000149357						53	50	51					11																	71809346		2200	4293	6493	LAMTOR1	SO:0001583	missense	0			-	HGNC	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.382G>A	11.37:g.71809346C>T	ENSP00000278671:p.Asp128Asn	Somatic	0	36	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q8WZ09|Q9NWT0	Missense_Mutation	SNP							NULL	p.D128N	ENST00000278671.5	37	c.382	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897981	0.72639	.	.	ENSG00000149357	ENST00000545249;ENST00000278671;ENST00000538404	T;T;T	0.61158	0.23;0.57;0.13	5.67	4.76	0.60689	.	0.109244	0.64402	N	0.000011	T	0.66906	0.2837	L	0.60455	1.87	0.80722	D	1	B;D	0.56521	0.197;0.976	B;P	0.56398	0.119;0.797	T	0.68372	-0.5426	10	0.48119	T	0.1	.	14.172	0.65514	0.0:0.9271:0.0:0.0729	.	128;128	F5H3Y3;Q6IAA8	.;LTOR1_HUMAN	N	128	ENSP00000440738:D128N;ENSP00000278671:D128N;ENSP00000439011:D128N	ENSP00000278671:D128N	D	-	1	0	LAMTOR1	71486994	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.991000	0.76232	1.398000	0.46701	0.563000	0.77884	GAT	-	NULL		0.622	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR1	protein_coding	OTTHUMT00000396733.1	C	NM_017907	-		71809346	-1	no_errors	ENST00000278671	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71809346	C	T	71809346	3	4	104	1	0	0	0	0	1	0	0	0	1654	826	29	2	111	2	C11orf59	11	71809346	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	6188593	71809346	63197170	39	6808											
IFT46	56912	genome.wustl.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	ATC	ATC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264020.2_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																																	0								ENSG00000118096																																			IFT46	SO:0001651	inframe_deletion	0				HGNC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del	Somatic	0	47	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	A8K0F6|Q9H6V5	In_Frame_Del	DEL							pfam_Intraflagellar_transp_cmplxB	p.D92in_frame_del	ENST00000264021.3	37	c.276_274	CCDS53718.1	11																																																																																			-	NULL		0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	protein_coding	OTTHUMT00000389627.1	ATC	NM_020153			118427685	-1	no_errors	ENST00000264020	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.999	-	-	118427685	ATC	-	118427683	7	5	104	1	0	1	0	1	0	0	0	0	7562	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-DX-A8BR-01A-11D-A417-09	46618337	118427683	16578833	40	6809											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120347386	120347386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagataacaaagctttattCgtcatttccatgtcagacaa	5	10	2	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:120347386C>A	ENST00000397843.2	+	34	3460	c.3294C>A	c.(3292-3294)ttC>ttA	p.F1098L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F995L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F1079L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1098	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGCTTTATTCGTCATTTCCA	0.398			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0								ENSG00000196914						111	105	107					11																	120347386		1854	4098	5952	ARHGEF12	SO:0001583	missense	0			-	HGNC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3294C>A	11.37:g.120347386C>A	ENSP00000380942:p.Phe1098Leu	Somatic	0	42	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O15086|Q6P526	Missense_Mutation	SNP							pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F1079L	ENST00000397843.2	37	c.3237	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284933	0.80803	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.64260	-0.09;-0.09;-0.09	5.1	-3.93	0.04143	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.41396	U	0.000897	T	0.77143	0.4087	M	0.87827	2.91	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.929;0.999;0.997	T	0.79468	-0.1791	10	0.87932	D	0	-11.3145	13.0064	0.58707	0.0:0.3549:0.0:0.6451	.	995;1079;1098	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	1098;1079;995	ENSP00000380942:F1098L;ENSP00000349056:F1079L;ENSP00000432984:F995L	ENSP00000349056:F1079L	F	+	3	2	ARHGEF12	119852596	0.012000	0.17670	0.978000	0.43139	0.991000	0.79684	-1.265000	0.02844	-0.585000	0.05905	0.563000	0.77884	TTC	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.398	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	protein_coding	OTTHUMT00000388052.1	C	NM_015313	-		120347386	1	no_errors	ENST00000356641	ensembl	human	known	74_37	missense	SNP	0.893	A	A	120347386	C	A	120347386	3	1	104	1	0	0	0	0	1	0	0	0	897	883	31	3	3428	3	ARHGEF12	11	120347386	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	1919703	120347386	14659130	41	6810											
DYRK4	8798	genome.wustl.edu	37	chr12	4705324	4705324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcttccacaggtcctgcatGatcacattgcctaccgctat	8	14	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:4705324G>A	ENST00000540757.2	+	5	452	c.292G>A	c.(292-294)Gat>Aat	p.D98N	DYRK4_ENST00000543431.1_Missense_Mutation_p.D98N|DYRK4_ENST00000010132.5_Missense_Mutation_p.D98N	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	98						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)			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)			GGTCCTGCATGATCACATTGC	0.557																																																	0								ENSG00000010219						127	131	130					12																	4705324		2203	4300	6503	DYRK4	SO:0001583	missense	0			-	HGNC	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.292G>A	12.37:g.4705324G>A	ENSP00000441755:p.Asp98Asn	Somatic	0	45	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D98N	ENST00000540757.2	37	c.292	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.532578	0.96446	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.69176	-0.5214	10	0.87932	D	0	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	213;98;98	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	213;98;98;98	ENSP00000437534:D213N;ENSP00000441755:D98N;ENSP00000010132:D98N;ENSP00000439697:D98N	ENSP00000010132:D98N	D	+	1	0	DYRK4	4575585	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.566000	0.98157	2.629000	0.89072	0.655000	0.94253	GAT	-	superfamily_Kinase-like_dom		0.557	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	G		-		4705324	1	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4705324	G	A	4705324	3	1	104	1	0	0	0	0	1	0	0	0	4860	1290	45	2	302	2	DYRK4	12	4705324	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		4705324	129146571	42	6811											
KRT1	3848	genome.wustl.edu	37	chr12	53069193	53069193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgtagctgccatggccGccgccgccacctccagagcc	12	19	0	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:53069193G>A	ENST00000252244.3	-	9	1777	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	573	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgccatggccgccgccgccac	0.741																																																	0								ENSG00000167768						4	5	5					12																	53069193		1750	3531	5281	KRT1	SO:0001819	synonymous_variant	0			-	HGNC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1719C>T	12.37:g.53069193G>A		Somatic	0	43	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G573	ENST00000252244.3	37	c.1719	CCDS8836.1	12																																																																																			-	NULL		0.741	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	protein_coding	OTTHUMT00000405706.1	G	NM_006121	-		53069193	-1	no_errors	ENST00000252244	ensembl	human	known	74_37	silent	SNP	0.811	A	A	53069193	G	A	53069193	2	1	104	1	0	0	0	0	0	0	0	1	8449	1074	38	1		1	KRT1	12	53069193	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	48363869	53069193	80782702	43	6812											
MYL6	4637	genome.wustl.edu	37	chr12	56553915	56553915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgctgaaatccggcAtgttcttgtcacactgggta	12	9	2	1	rs1804001		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:56553915A>G	ENST00000550697.1	+	4	573	c.332A>G	c.(331-333)cAt>cGt	p.H111R	RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000348108.4_Missense_Mutation_p.H112R|MYL6_ENST00000551589.1_Missense_Mutation_p.H111R|MYL6_ENST00000549566.1_Missense_Mutation_p.H156R|MYL6_ENST00000548580.1_Missense_Mutation_p.H63R|MYL6_ENST00000547408.1_Missense_Mutation_p.H111R|MYL6_ENST00000293422.5_Missense_Mutation_p.H112R|MYL6_ENST00000549017.1_Missense_Mutation_p.H7R|MYL6_ENST00000548400.1_Missense_Mutation_p.H75R|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.H111R|MYL6_ENST00000547649.1_Missense_Mutation_p.H111R|MYL6_ENST00000536128.1_Missense_Mutation_p.H204R	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	111	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAAATCCGGCATGTTCTTGTC	0.498																																																	0								ENSG00000092841						76	72	74					12																	56553915		2203	4300	6503	MYL6	SO:0001583	missense	0			-	HGNC	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.332A>G	12.37:g.56553915A>G	ENSP00000446955:p.His111Arg	Somatic	0	71	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.H111R	ENST00000550697.1	37	c.332	CCDS8906.1	12	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655185	0.67472	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000549392;ENST00000548400;ENST00000548293	D;D;D;D;T;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;1.07;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.19	4.19	0.49359	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.68317	2.08	0.80722	D	1	D;P;D;D	0.62365	0.99;0.879;0.991;0.971	P;P;P;P	0.58873	0.691;0.609;0.847;0.809	D	0.90368	0.4378	10	0.87932	D	0	.	12.662	0.56820	1.0:0.0:0.0:0.0	.	204;111;111;111	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	R	111;63;112;112;7;156;204;111;111;111;111;99;75;111	ENSP00000446955:H111R;ENSP00000446640:H63R;ENSP00000293422:H112R;ENSP00000301540:H112R;ENSP00000449086:H7R;ENSP00000446709:H156R;ENSP00000441750:H204R;ENSP00000446714:H111R;ENSP00000446721:H111R;ENSP00000446687:H111R;ENSP00000450116:H99R;ENSP00000448859:H75R;ENSP00000448101:H111R	ENSP00000293422:H112R	H	+	2	0	MYL6	54840182	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.125000	0.94402	1.898000	0.54952	0.379000	0.24179	CAT	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.498	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	protein_coding	OTTHUMT00000407928.3	A		-		56553915	1	no_errors	ENST00000547649	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56553915	A	G	56553915	3	3	104	1	0	0	0	0	1	0	0	0	10053	217	8	5	346	5	MYL6	12	56553915	Missense_Mutation	SNP	A	TCGA-DX-A8BR-01A-11D-A417-09	3484722	56553915	77297980	44	6813											
USP44	84101	genome.wustl.edu	37	chr12	95927128	95927128	+	Frame_Shift_Del	DEL	A	A	-													attggttcagatcaagctttAaaaaacattgtcgaaaaata							TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:95927128delA	ENST00000258499.3	-	2	1193	c.905delT	c.(904-906)ttafs	p.L302fs	USP44_ENST00000552440.1_Frame_Shift_Del_p.L302fs|USP44_ENST00000537435.2_Frame_Shift_Del_p.L302fs|USP44_ENST00000393091.2_Frame_Shift_Del_p.L302fs	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	302	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)			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						ATCAAGCTTTAAAAAACATTG	0.368																																																	0								ENSG00000136014						56	58	57					12																	95927128		2203	4300	6503	USP44	SO:0001589	frameshift_variant	0				HGNC	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.905delT	12.37:g.95927128delA	ENSP00000258499:p.Leu302fs	Somatic	0	36	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B2RDW3	Frame_Shift_Del	DEL							pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L302fs	ENST00000258499.3	37	c.905	CCDS9053.1	12																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.368	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP44	protein_coding	OTTHUMT00000408312.1	A	NM_032147			95927128	-1	no_errors	ENST00000258499	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	95927128	A	-	95927128	7	5	104	1	0	1	0	1	0	0	0	0	17082	372	13	0	1253	0	USP44	12	95927128	Frame_Shift_Del	DEL	A	TCGA-DX-A8BR-01A-11D-A417-09	39373213	95927128	37924767	45	6814											
ULK1	8408	genome.wustl.edu	37	chr12	132405899	132405899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgctgactggcatctGtgcctgacctttctggcctg	13	13	2	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:132405899G>T	ENST00000321867.4	+	28	3497	c.3146G>T	c.(3145-3147)tGt>tTt	p.C1049F	ULK1_ENST00000540647.1_Missense_Mutation_p.C294F	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1049					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTGGCATCTGTGCCTGACCT	0.672																																																	0								ENSG00000177169						117	114	115					12																	132405899		2203	4300	6503	ULK1	SO:0001583	missense	0			-	HGNC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3146G>T	12.37:g.132405899G>T	ENSP00000324560:p.Cys1049Phe	Somatic	0	20	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q9UQ28	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C1049F	ENST00000321867.4	37	c.3146	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000191	0.35320	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	T;T	0.70631	-0.5;1.29	4.56	1.54	0.23209	.	0.250244	0.40469	N	0.001090	T	0.64438	0.2598	M	0.72479	2.2	0.24031	N	0.996119	P	0.35714	0.517	B	0.36244	0.22	T	0.58912	-0.7552	10	0.66056	D	0.02	-1.2562	5.5445	0.17055	0.0795:0.1407:0.6341:0.1457	.	1049	O75385	ULK1_HUMAN	F	1049;294	ENSP00000324560:C1049F;ENSP00000441794:C294F	ENSP00000324560:C1049F	C	+	2	0	ULK1	130971852	1.000000	0.71417	0.112000	0.21494	0.893000	0.52053	4.589000	0.61006	0.079000	0.16929	0.561000	0.74099	TGT	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	protein_coding	OTTHUMT00000397769.3	G		-		132405899	1	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	SNP	0.395	T	T	132405899	G	T	132405899	3	4	104	1	0	0	0	0	1	0	0	0	16982	1377	48	3	3256	3	ULK1	12	132405899	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	36478771	132405899	1445996	46	6815											
RCBTB2	1102	genome.wustl.edu	37	chr13	49086897	49086897	+	Frame_Shift_Del	DEL	A	A	-													tgttagcaccaaagaatggtAagacccacaggcaacttcaa							TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr13:49086897delA	ENST00000344532.3	-	7	907	c.484delT	c.(484-486)tacfs	p.Y162fs	RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000430805.2_Frame_Shift_Del_p.Y167fs|RCBTB2_ENST00000544904.1_Frame_Shift_Del_p.Y138fs|RCBTB2_ENST00000481144.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	162					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AAAGAATGGTAAGACCCACAG	0.398																																																	0								ENSG00000136161						137	126	130					13																	49086897		2203	4300	6503	RCBTB2	SO:0001589	frameshift_variant	0				HGNC	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.484delT	13.37:g.49086897delA	ENSP00000345144:p.Tyr162fs	Somatic	0	82	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B2RDW8	Frame_Shift_Del	DEL							pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Y167fs	ENST00000344532.3	37	c.499	CCDS9411.1	13																																																																																			-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.398	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	protein_coding	OTTHUMT00000044888.2	A	NM_001268			49086897	-1	no_errors	ENST00000430805	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	49086897	A	-	49086897	7	5	104	1	0	1	0	1	0	0	0	0	13180	362	13	0	1207	0	RCBTB2	13	49086897	Frame_Shift_Del	DEL	A	TCGA-DX-A8BR-01A-11D-A417-09		49086897	66082981	47	6816											
EBPL	84650	genome.wustl.edu	37	chr13	50237243	50237243	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaggaacaatgccagagaCccatccagggcgacggtcag	13	11	1	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr13:50237243C>A	ENST00000242827.6	-	3	380	c.330G>T	c.(328-330)ggG>ggT	p.G110G	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378284.2_Silent_p.G110G|EBPL_ENST00000378282.5_Silent_p.G104G	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	110					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		ATGCCAGAGACCCATCCAGGG	0.443																																					NSCLC(39;857 1083 36109 42364 51411)												0								ENSG00000123179						108	95	99					13																	50237243		2203	4300	6503	EBPL	SO:0001819	synonymous_variant	0			-	HGNC	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.330G>T	13.37:g.50237243C>A		Somatic	0	79	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Silent	SNP							pfam_EBP	p.G110	ENST00000242827.6	37	c.330	CCDS9420.1	13																																																																																			-	pfam_EBP		0.443	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EBPL	protein_coding	OTTHUMT00000044932.2	C	NM_032565	-		50237243	-1	no_errors	ENST00000242827	ensembl	human	known	74_37	silent	SNP	0.036	A	A	50237243	C	A	50237243	2	1	104	1	0	0	0	0	0	0	0	1	4889	494	18	3		3	EBPL	13	50237243	Silent	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	1150346	50237243	64932635	48	6817											
IPO5	3843	genome.wustl.edu	37	chr13	98671881	98671881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attcagtctgcggattctaaGaccaaagaaaatgtcaatgc	8	8	4	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr13:98671881G>T	ENST00000490680.1	+	24	2948	c.2883G>T	c.(2881-2883)aaG>aaT	p.K961N	IPO5_ENST00000539640.1_Missense_Mutation_p.K836N|IPO5_ENST00000261574.5_Missense_Mutation_p.K979N			O00410	IPO5_HUMAN	importin 5	961					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGGATTCTAAGACCAAAGAAA	0.403																																																	0								ENSG00000065150						106	98	101					13																	98671881		2203	4300	6503	IPO5	SO:0001583	missense	0			-	HGNC	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2883G>T	13.37:g.98671881G>T	ENSP00000418393:p.Lys961Asn	Somatic	0	49	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.K979N	ENST00000490680.1	37	c.2937		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.20|19.20	3.781209|3.781209	0.70222|0.70222	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.12147|.	2.71;2.71;2.71;2.71|.	5.95|5.95	5.0|5.0	0.66597|0.66597	.|.	0.144445|.	0.64402|.	D|.	0.000008|.	T|T	0.59238|0.59238	0.2179|0.2179	M|M	0.64404|0.64404	1.975|1.975	0.44030|0.44030	D|D	0.996751|0.996751	P|.	0.36048|.	0.534|.	P|.	0.47528|.	0.549|.	T|T	0.60806|0.60806	-0.7190|-0.7190	10|5	0.87932|.	D|.	0|.	-5.1267|-5.1267	3.9665|3.9665	0.09434|0.09434	0.3151:0.0:0.6849:0.0|0.3151:0.0:0.6849:0.0	.|.	979|.	O00410-3|.	.|.	N|I	979;961;961;836|963	ENSP00000261574:K979N;ENSP00000350219:K961N;ENSP00000418393:K961N;ENSP00000445126:K836N|.	ENSP00000261574:K979N|.	K|R	+|+	3|2	2|0	IPO5|IPO5	97469882|97469882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.332000|3.332000	0.52083|0.52083	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	AAG|AGA	-	superfamily_ARM-type_fold		0.403	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	protein_coding	OTTHUMT00000354655.1	G	NM_002271	-		98671881	1	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98671881	G	T	98671881	3	4	104	1	0	0	0	0	1	0	0	0	7798	933	33	3	3035	3	IPO5	13	98671881	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	48434638	98671881	16497997	49	6818											
PIGB	9488	genome.wustl.edu	37	chr15	55647016	55647016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttcactgcccacttcCcatgagatttctccagtgcc	6	16	2	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr15:55647016C>T	ENST00000164305.5	+	11	1649	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	PIGB_ENST00000539642.1_Missense_Mutation_p.P258L|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	453					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TGCCCACTTCCCATGAGATTT	0.348																																																	0								ENSG00000069943						67	61	63					15																	55647016		1863	4095	5958	PIGB	SO:0001583	missense	0			-	HGNC	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1358C>T	15.37:g.55647016C>T	ENSP00000164305:p.Pro453Leu	Somatic	0	37	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	Q53FF9|Q8WVN7	Missense_Mutation	SNP							pfam_GPI_mannosylTrfase	p.P453L	ENST00000164305.5	37	c.1358		15	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483824	0.26598	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.59906	0.54;0.23	5.87	5.87	0.94306	.	0.230190	0.43919	D	0.000518	T	0.54983	0.1892	M	0.68593	2.085	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.48980	-0.8986	10	0.28530	T	0.3	-4.2926	12.7486	0.57296	0.257:0.743:0.0:0.0	.	453	Q92521	PIGB_HUMAN	L	453;258	ENSP00000164305:P453L;ENSP00000438963:P258L	ENSP00000164305:P453L	P	+	2	0	PIGB	53434308	0.976000	0.34144	0.366000	0.25914	0.502000	0.33828	2.753000	0.47524	2.785000	0.95823	0.591000	0.81541	CCC	-	NULL		0.348	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PIGB	protein_coding	OTTHUMT00000419687.1	C	NM_004855	-		55647016	1	no_errors	ENST00000164305	ensembl	human	known	74_37	missense	SNP	0.930	T	T	55647016	C	T	55647016	3	4	104	1	0	0	0	0	1	0	0	0	11887	623	22	2	1400	2	PIGB	15	55647016	Missense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09		55647016	46884376	50	6819											
OR1F1	4992	genome.wustl.edu	37	chr16	3254752	3254752	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatggctccactctcattctGtgcagacaatgccatcactc	7	14	3	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:3254752G>C	ENST00000304646.2	+	1	506	c.506G>C	c.(505-507)tGt>tCt	p.C169S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	169					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)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTCTCATTCTGTGCAGACAAT	0.512																																																	0								ENSG00000168124						133	111	118					16																	3254752		2197	4300	6497	OR1F1	SO:0001583	missense	0			-	HGNC	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.506G>C	16.37:g.3254752G>C	ENSP00000305424:p.Cys169Ser	Somatic	0	30	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	O15246|Q6IFL5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C169S	ENST00000304646.2	37	c.506	CCDS10496.1	16	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713210	0.48517	.	.	ENSG00000168124	ENST00000304646	T	0.00211	8.54	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.00845	0.0028	M	0.93854	3.465	0.50039	D	0.999841	D	0.67145	0.996	D	0.72075	0.976	T	0.61520	-0.7046	10	0.66056	D	0.02	.	16.114	0.81289	0.0:0.0:1.0:0.0	.	169	O43749	OR1F1_HUMAN	S	169	ENSP00000305424:C169S	ENSP00000305424:C169S	C	+	2	0	OR1F1	3194753	1.000000	0.71417	0.889000	0.34880	0.357000	0.29423	7.310000	0.78947	2.384000	0.81235	0.393000	0.25936	TGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	protein_coding	OTTHUMT00000206985.1	G		-		3254752	1	no_errors	ENST00000304646	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3254752	G	C	3254752	3	2	104	1	0	0	0	0	1	0	0	0	10958	1377	48	4	508	4	OR1F1	16	3254752	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		3254752	87100001	51	6820											
MYH11	4629	genome.wustl.edu	37	chr16	15832545	15832545	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcctcaaggagttttcgttCctttttggggaaagagaaag	11	7	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:15832545C>G	ENST00000300036.5	-	24	3107	c.2998G>C	c.(2998-3000)Gaa>Caa	p.E1000Q	MYH11_ENST00000396324.3_Splice_Site_p.E1007Q|MYH11_ENST00000576790.2_Splice_Site_p.E1000Q|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000452625.2_Splice_Site_p.E1007Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1000					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGTTTTCGTTCCTTTTTGGGG	0.353			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0								ENSG00000133392						113	106	108					16																	15832545		2197	4300	6497	MYH11	SO:0001630	splice_region_variant	0			-	HGNC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2998-1G>C	16.37:g.15832545C>G		Somatic	0	88	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1007Q	ENST00000300036.5	37	c.3019	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249919	0.59212	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	4.3	4.3	0.51218	.	0.117593	0.56097	D	0.000029	D	0.90246	0.6950	M	0.93283	3.4	0.80722	D	1	B;B;B;B;B	0.24882	0.113;0.008;0.008;0.008;0.003	B;B;B;B;B	0.33454	0.164;0.063;0.105;0.063;0.03	D	0.91133	0.4939	10	0.87932	D	0	.	16.1203	0.81346	0.0:1.0:0.0:0.0	.	1007;1000;1007;1000;1007	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1000;1000;1007;1007;1007	ENSP00000300036:E1000Q;ENSP00000345136:E1000Q;ENSP00000379616:E1007Q;ENSP00000407821:E1007Q	ENSP00000300036:E1000Q	E	-	1	0	MYH11	15740046	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.587000	0.82613	2.117000	0.64856	0.555000	0.69702	GAA	-	superfamily_Prefoldin		0.353	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	protein_coding	OTTHUMT00000252192.2	C	NM_001040113	-	Missense_Mutation	15832545	-1	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	SNP	1.000	G	G	15832545	C	G	15832545	5	3	104	1	0	0	0	0	0	0	1	0	10033	869	30	4	3027	4	MYH11	16	15832545	Splice_Site	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	12577793	15832545	74522208	52	6821											
GCSH	2653	genome.wustl.edu	37	chr16	81116509	81116509	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgtatttctcatatgcttCttcactcataagttcatcta	3	9	6	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:81116509C>A	ENST00000315467.3	-	5	608	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	162					glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TCATATGCTTCTTCACTCATA	0.343																																																	0								ENSG00000140905						81	83	82					16																	81116509		2202	4296	6498	GCSH	SO:0001587	stop_gained	0			-	HGNC	M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"lipoic acid-containing protein"	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.484G>T	16.37:g.81116509C>A	ENSP00000319531:p.Glu162*	Somatic	0	85	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q9H1E9	Nonsense_Mutation	SNP							pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub	p.E162*	ENST00000315467.3	37	c.484	CCDS10933.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076755	0.76415	.	.	ENSG00000140905	ENST00000315467	.	.	.	5.4	5.4	0.78164	.	0.251990	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.5372	0.95257	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000319531:E162X	E	-	1	0	GCSH	79674010	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.010000	0.57117	2.692000	0.91855	0.591000	0.81541	GAA	-	pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub		0.343	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSH	protein_coding	OTTHUMT00000269049.1	C	NM_004483	-		81116509	-1	no_errors	ENST00000315467	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	81116509	C	A	81116509	4	1	104	1	0	0	0	0	0	1	0	0	6307	922	32	3	41	3	GCSH	16	81116509	Nonsense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	65283964	81116509	9238244	53	6822											
CMIP	80790	genome.wustl.edu	37	chr16	81697934	81697934	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcacccccgtggtgcagCgaatcctcaagcataacatg	9	13	2	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:81697934C>A	ENST00000537098.3	+	7	877	c.805C>A	c.(805-807)Cga>Aga	p.R269R	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.R175R|CMIP_ENST00000398040.4_Silent_p.R116R	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	269						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						cgtggtgcagcgaatcctcaa	0.632																																																	0								ENSG00000153815						52	57	56					16																	81697934		2051	4189	6240	CMIP	SO:0001819	synonymous_variant	0			-	HGNC	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.805C>A	16.37:g.81697934C>A		Somatic	0	39	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q9C0G9	Silent	SNP							NULL	p.R269	ENST00000537098.3	37	c.805	CCDS54044.1	16																																																																																			-	NULL		0.632	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	protein_coding	OTTHUMT00000432399.2	C	NM_030629	-		81697934	1	no_errors	ENST00000537098	ensembl	human	known	74_37	silent	SNP	1.000	A	A	81697934	C	A	81697934	2	1	104	1	0	0	0	0	0	0	0	1	3580	760	27	3		3	CMIP	16	81697934	Silent	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	581425	81697934	8656819	54	6823											
OR3A2	4995	genome.wustl.edu	37	chr17	3181471	3181471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagacaaaccacggtgagGtgggagccacacgtggagaa	14	8	0	3			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:3181471G>T	ENST00000408891.2	-	1	797	c.759C>A	c.(757-759)caC>caA	p.H253Q	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	253					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						CCACGGTGAGGTGGGAGCCAC	0.512																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)												0								ENSG00000221882						57	61	60					17																	3181471		2201	4298	6499	OR3A2	SO:0001583	missense	0			-	HGNC	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.759C>A	17.37:g.3181471G>T	ENSP00000386180:p.His253Gln	Somatic	0	31	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H253Q	ENST00000408891.2	37	c.759	CCDS42233.1	17	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338298	0.41398	.	.	ENSG00000221882	ENST00000408891	T	0.00307	8.17	4.9	-1.02	0.10135	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000358	T	0.00875	0.0029	H	0.96943	3.91	0.29999	N	0.816155	D	0.89917	1.0	D	0.97110	1.0	T	0.10382	-1.0632	10	0.87932	D	0	-20.713	9.3016	0.37849	0.4895:0.0:0.5105:0.0	.	253	P47893	OR3A2_HUMAN	Q	253	ENSP00000386180:H253Q	ENSP00000386180:H253Q	H	-	3	2	OR3A2	3128221	0.934000	0.31675	0.995000	0.50966	0.219000	0.24729	0.035000	0.13797	-0.168000	0.10853	0.561000	0.74099	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.512	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	protein_coding	OTTHUMT00000438370.1	G		-		3181471	-1	no_errors	ENST00000408891	ensembl	human	known	74_37	missense	SNP	0.999	T	T	3181471	G	T	3181471	3	4	104	1	0	0	0	0	1	0	0	0	11040	1252	44	3	210	3	OR3A2	17	3181471	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		3181471	78013739	55	6824											
MYH13	8735	genome.wustl.edu	37	chr17	10231194	10231194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacttacagactggacctGcaattggaggtcattcttct	10	9	3	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:10231194G>T	ENST00000418404.3	-	21	2843	c.2680C>A	c.(2680-2682)Cag>Aag	p.Q894K	MYH13_ENST00000252172.4_Missense_Mutation_p.Q894K|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	894					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACTGGACCTGCAATTGGAGG	0.527											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006788						72	75	74					17																	10231194		2166	4288	6454	MYH13	SO:0001583	missense	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2680C>A	17.37:g.10231194G>T	ENSP00000404570:p.Gln894Lys	Somatic	0	41	0	663	0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	O95252|Q9P0U8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q894K	ENST00000418404.3	37	c.2680	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249484	0.80024	.	.	ENSG00000006788	ENST00000252172	D	0.83335	-1.71	4.1	4.1	0.47936	.	.	.	.	.	D	0.86768	0.6012	M	0.90650	3.135	0.35168	D	0.771253	B	0.27229	0.172	B	0.28011	0.085	D	0.90768	0.4670	9	0.59425	D	0.04	.	16.9101	0.86138	0.0:0.0:1.0:0.0	.	894	Q9UKX3	MYH13_HUMAN	K	894	ENSP00000252172:Q894K	ENSP00000252172:Q894K	Q	-	1	0	MYH13	10171919	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	6.350000	0.73017	2.283000	0.76528	0.563000	0.77884	CAG	-	NULL		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	G	NM_003802	-		10231194	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	SNP	0.999	T	T	10231194	G	T	10231194	3	4	104	1	0	0	0	0	1	0	0	0	10034	1328	46	3	3216	3	MYH13	17	10231194	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	7049723	10231194	70964016	56	6825											
ERBB2	2064	genome.wustl.edu	37	chr17	37883121	37883121	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaccttctaccgctcactGctggaggacgatgacatggg	12	12	2	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:37883121G>T	ENST00000269571.5	+	25	3183	c.3024G>T	c.(3022-3024)ctG>ctT	p.L1008L	ERBB2_ENST00000584450.1_Silent_p.L1008L|ERBB2_ENST00000540147.1_Silent_p.L978L|ERBB2_ENST00000541774.1_Silent_p.L993L|ERBB2_ENST00000445658.2_Silent_p.L732L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Silent_p.L978L|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000406381.2_Silent_p.L978L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1008					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACCGCTCACTGCTGGAGGACG	0.642		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0								ENSG00000141736						104	105	105					17																	37883121		2203	4300	6503	ERBB2	SO:0001819	synonymous_variant	0			-	HGNC	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3024G>T	17.37:g.37883121G>T		Somatic	0	19	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1008	ENST00000269571.5	37	c.3024	CCDS32642.1	17																																																																																			-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom		0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	G		-		37883121	1	no_errors	ENST00000269571	ensembl	human	known	74_37	silent	SNP	0.996	T	T	37883121	G	T	37883121	2	4	104	1	0	0	0	0	0	0	0	1	5208	1306	46	3		3	ERBB2	17	37883121	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	27651927	37883121	43312089	57	6826											
KRTAP9-9	81870	genome.wustl.edu	37	chr17	39411670	39411670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccccttgctgtcagccTacctgctgcaggaccacctg	9	17	1	0	rs540633489	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:39411670T>C	ENST00000394008.1	+	1	35	c.33T>C	c.(31-33)ccT>ccC	p.P11P		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	11	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCA	0.602																																																	0								ENSG00000198083																																			KRTAP9-9	SO:0001819	synonymous_variant	0			-	HGNC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.33T>C	17.37:g.39411670T>C		Somatic	0	37	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B5MDD6|Q9BYQ1	Silent	SNP							NULL	p.P11	ENST00000394008.1	37	c.33	CCDS54127.1	17																																																																																			-	NULL		0.602	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	protein_coding	OTTHUMT00000257710.1	T	NM_030975	-		39411670	1	no_errors	ENST00000394008	ensembl	human	known	74_37	silent	SNP	0.053	C	C	39411670	T	C	39411670	2	2	104	1	0	0	0	0	0	0	0	1	8579	1509	53	5		5	KRTAP9-9	17	39411670	Silent	SNP	T	TCGA-DX-A8BR-01A-11D-A417-09	1528549	39411670	41783540	58	6827											
ABI3	51225	genome.wustl.edu	37	chr17	47295202	47295202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcatcgccccagagaaCctaccccctctcacgcccta	6	19	2	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:47295202C>T	ENST00000225941.1	+	3	885	c.387C>T	c.(385-387)aaC>aaT	p.N129N	ABI3_ENST00000419580.2_Silent_p.N123N	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	129					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCCAGAGAACCTACCCCCTC	0.612										HNSCC(55;0.14)																																							0								ENSG00000108798						135	131	132					17																	47295202		2203	4300	6503	ABI3	SO:0001819	synonymous_variant	0			-	HGNC	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.387C>T	17.37:g.47295202C>T		Somatic	0	41	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	C9IZN8|Q9H0P6	Silent	SNP							pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.N129	ENST00000225941.1	37	c.387	CCDS11546.1	17																																																																																			-	pfam_Abl-interactor_HHR_dom		0.612	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	protein_coding	OTTHUMT00000364475.1	C	NM_016428	-		47295202	1	no_errors	ENST00000225941	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47295202	C	T	47295202	2	4	104	1	0	0	0	0	0	0	0	1	90	506	18	2		2	ABI3	17	47295202	Silent	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	7883532	47295202	33900008	59	6828											
BZRAP1	9256	genome.wustl.edu	37	chr17	56382430	56382430	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctcactgacctgactctCagcctggggtgtcctgggtt	11	14	2	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:56382430C>A	ENST00000343736.4	-	30	5699	c.5536G>T	c.(5536-5538)Gag>Tag	p.E1846*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.E1846*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E1786*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1846						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCTGACTCTCAGCCTGGGGT	0.647																																																	0								ENSG00000005379						41	46	44					17																	56382430		2203	4300	6503	BZRAP1	SO:0001587	stop_gained	0			-	HGNC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5536G>T	17.37:g.56382430C>A	ENSP00000345824:p.Glu1846*	Somatic	0	60	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	O75111|Q8N5W3	Nonsense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1846*	ENST00000343736.4	37	c.5536	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659148	0.67586	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.42	4.45	0.53987	.	0.645746	0.16081	N	0.230483	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.6242	0.45497	0.0:0.9108:0.0:0.0892	.	.	.	.	X	1846;1846;1786	.	ENSP00000268893:E1786X	E	-	1	0	BZRAP1	53737429	0.988000	0.35896	0.628000	0.29241	0.579000	0.36224	2.914000	0.48797	2.575000	0.86900	0.449000	0.29647	GAG	-	NULL		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	protein_coding	OTTHUMT00000443980.1	C	NM_004758	-		56382430	-1	no_errors	ENST00000355701	ensembl	human	known	74_37	nonsense	SNP	0.533	A	A	56382430	C	A	56382430	4	1	104	1	0	0	0	0	0	1	0	0	1579	835	29	3	45	3	BZRAP1	17	56382430	Nonsense_Mutation	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	9087228	56382430	24812780	60	6829											
UNC13D	201294	genome.wustl.edu	37	chr17	73836333	73836333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagttggaactggagGtggcactggcctcggtctgg	18	7	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:73836333G>T	ENST00000207549.4	-	10	1210	c.831C>A	c.(829-831)caC>caA	p.H277Q	UNC13D_ENST00000412096.2_Missense_Mutation_p.H277Q|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	277	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAACTGGAGGTGGCACTGGC	0.672									Familial Hemophagocytic Lymphohistiocytosis																																								0								ENSG00000092929						58	52	54					17																	73836333		2203	4300	6503	UNC13D	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.831C>A	17.37:g.73836333G>T	ENSP00000207549:p.His277Gln	Somatic	0	27	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	B4DWG9|Q9H7K5	Missense_Mutation	SNP							pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.H277Q	ENST00000207549.4	37	c.831	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744470	0.69418	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69926	-0.43;-0.44	4.56	3.59	0.41128	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	L	0.51422	1.61	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.965	T	0.72404	-0.4304	10	0.33141	T	0.24	-28.6764	12.5079	0.55991	0.0807:0.0:0.9193:0.0	.	277;277	B4DTQ6;Q70J99	.;UN13D_HUMAN	Q	277	ENSP00000207549:H277Q;ENSP00000388093:H277Q	ENSP00000207549:H277Q	H	-	3	2	UNC13D	71347928	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.053000	0.64269	1.134000	0.42165	0.563000	0.77884	CAC	-	superfamily_C2_dom		0.672	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	G	XM_113950	-		73836333	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73836333	G	T	73836333	3	4	104	1	0	0	0	0	1	0	0	0	16994	1252	44	3	2533	3	UNC13D	17	73836333	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	17453903	73836333	7358877	61	6830											
ZNF90	7643	genome.wustl.edu	37	chr19	20229235	20229235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaagtgtgataaatgtgGcagagcatttatttcatcct	8	7	1	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:20229235G>A	ENST00000418063.2	+	4	984	c.872G>A	c.(871-873)gGc>gAc	p.G291D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	291					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)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GATAAATGTGGCAGAGCATTT	0.373																																																	0								ENSG00000213988						74	76	75					19																	20229235		692	1591	2283	ZNF90	SO:0001583	missense	0			-	HGNC	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.872G>A	19.37:g.20229235G>A	ENSP00000410466:p.Gly291Asp	Somatic	0	65	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	B9EH87	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G291D	ENST00000418063.2	37	c.872	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920918	0.33908	.	.	ENSG00000213988	ENST00000418063	T	0.07021	3.23	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	L	0.54323	1.7	0.33182	D	0.549733	D	0.89917	1.0	D	0.97110	1.0	T	0.15636	-1.0430	8	.	.	.	.	7.3123	0.26481	0.0:0.0:1.0:0.0	.	291	Q03938	ZNF90_HUMAN	D	291	ENSP00000410466:G291D	.	G	+	2	0	ZNF90	20090235	1.000000	0.71417	0.009000	0.14445	0.009000	0.06853	3.003000	0.49505	0.181000	0.19994	0.184000	0.17185	GGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	protein_coding	OTTHUMT00000350101.1	G	NM_007138	-		20229235	1	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	SNP	0.989	A	A	20229235	G	A	20229235	3	1	104	1	0	0	0	0	1	0	0	0	18206	1203	42	2	886	2	ZNF90	19	20229235	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		20229235	38899748	62	6831											
RUVBL2	10856	genome.wustl.edu	37	chr19	49514351	49514351	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggagatcatccctggaGtgaggacccaggacatggcc	15	11	1	2			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:49514351G>T	ENST00000595090.1	+	10	1346		c.e10+1		RUVBL2_ENST00000413176.2_Splice_Site|RUVBL2_ENST00000601968.1_Splice_Site	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCCCTGGAGTGAGGACCCA	0.637																																																	0								ENSG00000183207						36	41	39					19																	49514351		2054	4189	6243	RUVBL2	SO:0001630	splice_region_variant	0			-	HGNC	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.882+1G>T	19.37:g.49514351G>T		Somatic	0	41	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Splice_Site	SNP							-	e10+1	ENST00000595090.1	37	c.882+1	CCDS42588.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050147	0.75846	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0153	0.71578	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUVBL2	54206163	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	8.679000	0.91220	2.483000	0.83821	0.561000	0.74099	.	-	-		0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	protein_coding	OTTHUMT00000466235.1	G		-	Intron	49514351	1	no_errors	ENST00000595090	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	49514351	G	T	49514351	5	4	104	1	0	0	0	0	0	0	1	0	13761	1043	36	3	921	3	RUVBL2	19	49514351	Splice_Site	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	29285116	49514351	9614632	63	6832											
LAIR1	3903	genome.wustl.edu	37	chr19	54866934	54866934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggctttgtggactgTggggacacagcccgggctgt	17	10	0	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:54866934T>C	ENST00000391742.2	-	10	959	c.807A>G	c.(805-807)ccA>ccG	p.P269P	LAIR1_ENST00000348231.4_Silent_p.P252P|CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000434277.2_Silent_p.P268P|LAIR1_ENST00000313038.6_Silent_p.P262P|LAIR1_ENST00000391743.3_Silent_p.P251P|LAIR1_ENST00000474878.1_Silent_p.P251P|LAIR1_ENST00000463489.1_5'Flank			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	269					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TTGTGGACTGTGGGGACACAG	0.622																																																	0								ENSG00000167613						116	107	110					19																	54866934		2203	4300	6503	LAIR1	SO:0001819	synonymous_variant	0			-	HGNC	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.807A>G	19.37:g.54866934T>C		Somatic	0	18	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00		Silent	SNP							smart_Ig_sub	p.P269	ENST00000391742.2	37	c.807	CCDS12891.1	19																																																																																			-	NULL		0.622	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR1	protein_coding	OTTHUMT00000140506.1	T		-		54866934	-1	no_errors	ENST00000391742	ensembl	human	known	74_37	silent	SNP	0.000	C	C	54866934	T	C	54866934	2	2	104	1	0	0	0	0	0	0	0	1	8604	1683	59	5		5	LAIR1	19	54866934	Silent	SNP	T	TCGA-DX-A8BR-01A-11D-A417-09	5352583	54866934	4262049	64	6833											
CDH4	1002	genome.wustl.edu	37	chr20	60511837	60511837	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accccacggcacccccctatGactccctgctggtcttcgac	7	20	1	1			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr20:60511837G>T	ENST00000360469.5	+	16	2675	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	CDH4_ENST00000543233.1_Missense_Mutation_p.D789Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	863					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)			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)			ACCCCCCTATGACTCCCTGCT	0.632																																																	0								ENSG00000179242						45	44	44					20																	60511837		2202	4300	6502	CDH4	SO:0001583	missense	0			-	HGNC	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.2587G>T	20.37:g.60511837G>T	ENSP00000353656:p.Asp863Tyr	Somatic	0	39	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.D863Y	ENST00000360469.5	37	c.2587	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010290	0.75046	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.89681	-2.55;-2.55	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98041	1.0382	9	.	.	.	.	17.1925	0.86883	0.0:0.0:1.0:0.0	.	863	P55283	CADH4_HUMAN	Y	863;771;789	ENSP00000353656:D863Y;ENSP00000443301:D789Y	.	D	+	1	0	CDH4	59945232	1.000000	0.71417	0.985000	0.45067	0.510000	0.34073	9.580000	0.98207	2.068000	0.61886	0.467000	0.42956	GAC	-	pfam_Cadherin_cytoplasmic-dom		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	G	NM_001794	-		60511837	1	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60511837	G	T	60511837	3	4	104	1	0	0	0	0	1	0	0	0	3114	1290	45	3	2649	3	CDH4	20	60511837	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		60511837	2513683	65	6834											
ZNF70	7621	genome.wustl.edu	37	chr22	24086482	24086482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctttcccacagagatcGcactcgtgaggtttctttag	10	10	1	2	rs144085967		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:24086482G>A	ENST00000341976.3	-	2	1306	c.846C>T	c.(844-846)tgC>tgT	p.C282C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACAGAGATCGCACTCGTGAG	0.517																																																	0								ENSG00000187792	G		1,4405	2.1+/-5.4	0,1,2202	80	75	77		846	-6.7	0	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ZNF70	NM_021916.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		282/447	24086482	1,13005	2203	4300	6503	ZNF70	SO:0001819	synonymous_variant	0			-	HGNC	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.846C>T	22.37:g.24086482G>A		Somatic	0	33	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C282	ENST00000341976.3	37	c.846	CCDS13812.1	22																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	protein_coding	OTTHUMT00000319881.1	G	NM_021916	rs144085967		24086482	-1	no_errors	ENST00000341976	ensembl	human	known	74_37	silent	SNP	0.099	A	A	24086482	G	A	24086482	2	1	104	1	0	0	0	0	0	0	0	1	18110	1079	38	1		1	ZNF70	22	24086482	Silent	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		24086482	27218084	66	6835											
CSDC2	27254	genome.wustl.edu	37	chr22	41969680	41969680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcccgggcctcagctggCcccgtgttcaagggcgtctg	14	15	3	0	rs369315006		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:41969680C>T	ENST00000306149.7	+	3	742	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	66					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						CCTCAGCTGGCCCCGTGTTCA	0.607																																					NSCLC(181;294 2110 12667 14717 31090)												0								ENSG00000172346						93	82	86					22																	41969680		2203	4300	6503	CSDC2	SO:0001819	synonymous_variant	0			-	HGNC	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.198C>T	22.37:g.41969680C>T		Somatic	0	41	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q8ND37	Silent	SNP							pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.G66	ENST00000306149.7	37	c.198	CCDS14019.1	22																																																																																			-	superfamily_NA-bd_OB-fold		0.607	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDC2	protein_coding	OTTHUMT00000320689.1	C	NM_014460	-		41969680	1	no_errors	ENST00000306149	ensembl	human	known	74_37	silent	SNP	0.990	T	T	41969680	C	T	41969680	2	4	104	1	0	0	0	0	0	0	0	1	3930	726	26	2		2	CSDC2	22	41969680	Silent	SNP	C	TCGA-DX-A8BR-01A-11D-A417-09	17883198	41969680	9334886	67	6836											
TCF20	6942	genome.wustl.edu	37	chr22	42606945	42606945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagggggttcctttccgGcagtaactgtttctgcatgt	11	11	1	0			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:42606945G>T	ENST00000359486.3	-	1	4503	c.4367C>A	c.(4366-4368)gCc>gAc	p.A1456D	TCF20_ENST00000335626.4_Missense_Mutation_p.A1456D|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCTTTCCGGCAGTAACTGT	0.522																																																	0								ENSG00000100207						127	121	123					22																	42606945		2203	4300	6503	TCF20	SO:0001583	missense	0			-	HGNC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4367C>A	22.37:g.42606945G>T	ENSP00000352463:p.Ala1456Asp	Somatic	0	34	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP							smart_Znf_PHD	p.A1456D	ENST00000359486.3	37	c.4367	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534345	0.13188	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59083	0.29;0.29	5.28	2.93	0.34026	.	0.724348	0.12871	N	0.432247	T	0.36963	0.0986	N	0.14661	0.345	0.09310	N	1	B;B	0.20459	0.045;0.026	B;B	0.23852	0.049;0.022	T	0.26780	-1.0093	10	0.51188	T	0.08	-1.0E-4	4.1695	0.10322	0.2596:0.3526:0.3878:0.0	.	1456;1456	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	1456	ENSP00000352463:A1456D;ENSP00000335561:A1456D	ENSP00000335561:A1456D	A	-	2	0	TCF20	40936889	0.000000	0.05858	0.049000	0.19019	0.896000	0.52359	0.826000	0.27407	0.609000	0.30018	0.655000	0.94253	GCC	-	NULL		0.522	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	protein_coding	OTTHUMT00000320531.1	G	NM_181492	-		42606945	-1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	SNP	0.007	T	T	42606945	G	T	42606945	3	4	104	1	0	0	0	0	1	0	0	0	15697	1203	42	3	1553	3	TCF20	22	42606945	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09	637265	42606945	8697621	68	6837											
ZNF711	7552	genome.wustl.edu	37	chrX	84520144	84520144	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggaacagaaattgtcacaGagagtgagtacaccagtgga	13	6	1	3			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chrX:84520144G>A	ENST00000373165.3	+	6	1105	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ZNF711_ENST00000395402.1_Missense_Mutation_p.E245K|ZNF711_ENST00000360700.4_Missense_Mutation_p.E267K|ZNF711_ENST00000542798.1_Missense_Mutation_p.E63K|ZNF711_ENST00000276123.3_Missense_Mutation_p.E267K	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	267					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AATTGTCACAGAGAGTGAGTA	0.373																																																	0								ENSG00000147180						74	71	72					X																	84520144		2202	4300	6502	ZNF711	SO:0001583	missense	0			-	HGNC	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.799G>A	X.37:g.84520144G>A	ENSP00000362260:p.Glu267Lys	Somatic	0	147	0		0.64473453346807				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	66	41.59	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP							pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E245K	ENST00000373165.3	37	c.733	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960476	0.92791	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.12	5.12	0.69794	Transcriptional activator, Zfx / Zfy domain (1);	0.177280	0.26481	U	0.024123	T	0.65533	0.2700	M	0.70595	2.14	0.80722	D	1	P;P	0.49559	0.925;0.762	P;B	0.47162	0.54;0.381	T	0.71481	-0.4580	10	0.62326	D	0.03	-12.16	17.6722	0.88221	0.0:0.0:1.0:0.0	.	267;267	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	K	245;267;267;267;63	ENSP00000378798:E245K;ENSP00000362260:E267K;ENSP00000276123:E267K;ENSP00000353922:E267K;ENSP00000442071:E63K	ENSP00000276123:E267K	E	+	1	0	ZNF711	84406800	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.222000	0.95196	2.101000	0.63845	0.506000	0.49869	GAG	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.373	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	protein_coding	OTTHUMT00000057388.2	G	NM_021998	-		84520144	1	no_errors	ENST00000395402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84520144	G	A	84520144	3	1	104	1	0	0	0	0	1	0	0	0	18123	943	33	2	813	2	ZNF711	23	84520144	Missense_Mutation	SNP	G	TCGA-DX-A8BR-01A-11D-A417-09		84520144	70750416	69	6838											
PRAMEF22	653606	genome.wustl.edu	37	chr1	13038327	13038327	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccttgctgtggcacGtcgcccactgagcaactgga	11	15	0	1	rs199598633		TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:13038327G>T	ENST00000376187.1	+	3	1392	c.1392G>T	c.(1390-1392)acG>acT	p.T464T	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	464					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)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GCTGTGGCACGTCGCCCACTG	0.527																																																	0								ENSG00000204508						1	1	1					1																	13038327		265	525	790	PRAMEF22	SO:0001819	synonymous_variant	0			-	HGNC			1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.1392G>T	1.37:g.13038327G>T		Somatic	0	8	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	A6NMM3	Silent	SNP							NULL	p.T464	ENST00000376187.1	37	c.1392	CCDS41256.1	1																																																																																			-	NULL		0.527	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	protein_coding	OTTHUMT00000158511.1	G	NM_001100631	rs199598633		13038327	1	no_errors	ENST00000376187	ensembl	human	known	74_37	silent	SNP	0.000	T	T	13038327	G	T	13038327	2	4	105	1	0	0	0	0	0	0	0	1	12441	1132	40	3		3	PRAMEF22	1	13038327	Silent	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09		13038327	236212294	1	6839											
GJA9	81025	genome.wustl.edu	37	chr1	39340985	39340985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtatttggctacattTtgttttgccttgtttgcatg	9	7	1	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:39340985T>C	ENST00000360786.3	-	1	1038	c.786A>G	c.(784-786)caA>caG	p.Q262Q	MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Silent_p.Q262Q|GJA9_ENST00000357771.3_Silent_p.Q262Q|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	262					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGGCTACATTTTGTTTTGCCT	0.383																																																	0								ENSG00000131233						138	135	136					1																	39340985		2203	4300	6503	GJA9	SO:0001819	synonymous_variant	0			-	HGNC	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.786A>G	1.37:g.39340985T>C		Somatic	0	29	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.Q262	ENST00000360786.3	37	c.786	CCDS432.1	1																																																																																			-	NULL		0.383	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	protein_coding	OTTHUMT00000001205.1	T	NM_030772	-		39340985	-1	no_errors	ENST00000357771	ensembl	human	known	74_37	silent	SNP	0.991	C	C	39340985	T	C	39340985	2	2	105	1	0	0	0	0	0	0	0	1	6408	1838	64	5		5	GJA9	1	39340985	Silent	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09	26302658	39340985	209909636	2	6840											
C1orf173	127254	genome.wustl.edu	37	chr1	75072348	75072348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttttcctttacttgTcatttcctccacagcagtta	5	12	1	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:75072348T>C	ENST00000326665.5	-	10	1644	c.1426A>G	c.(1426-1428)Aca>Gca	p.T476A	C1orf173_ENST00000420661.2_Missense_Mutation_p.T279A|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		476	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTACTTGTCATTTCCTCC	0.373																																																	0								ENSG00000178965						201	197	198					1																	75072348		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.1426A>G	1.37:g.75072348T>C	ENSP00000322609:p.Thr476Ala	Somatic	0	28	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP							NULL	p.T476A	ENST00000326665.5	37	c.1426	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750490	0.30955	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.16743	2.8;2.32	5.15	0.643	0.17770	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.19706	0.015;0.038	B;B	0.16289	0.015;0.015	T	0.47071	-0.9145	9	0.17832	T	0.49	-8.5043	1.9572	0.03378	0.1359:0.459:0.1328:0.2722	.	279;476	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	A	476;279	ENSP00000322609:T476A;ENSP00000398581:T279A	ENSP00000322609:T476A	T	-	1	0	C1orf173	74844936	0.474000	0.25886	0.755000	0.31263	0.178000	0.23041	1.030000	0.30153	0.265000	0.21872	-0.177000	0.13119	ACA	-	NULL		0.373	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	T		-		75072348	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.131	C	C	75072348	T	C	75072348	3	2	105	1	0	0	0	0	1	0	0	0	2016	1667	58	5	3186	5	C1orf173	1	75072348	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09	35731363	75072348	174178273	3	6841											
SPTA1	6708	genome.wustl.edu	37	chr1	158636128	158636128	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacgagcagccacagccgacTccaggaggccgtgtttcctg	13	14	0	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:158636128T>A	ENST00000368147.4	-	16	2378	c.2198A>T	c.(2197-2199)gAg>gTg	p.E733V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	733					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACAGCCGACTCCAGGAGGCC	0.517																																																	0								ENSG00000163554						40	43	42					1																	158636128		1965	4163	6128	SPTA1	SO:0001583	missense	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2198A>T	1.37:g.158636128T>A	ENSP00000357129:p.Glu733Val	Somatic	0	54	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	104	26.24	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E733V	ENST00000368147.4	37	c.2198	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380756	0.61845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.57752	0.38;0.38	4.55	4.55	0.56014	.	0.000000	0.32518	N	0.005984	T	0.71409	0.3336	M	0.91038	3.17	0.54753	D	0.999982	D	0.71674	0.998	D	0.73380	0.98	T	0.79240	-0.1885	10	0.87932	D	0	.	12.8806	0.58014	0.0:0.0:0.0:1.0	.	733	P02549	SPTA1_HUMAN	V	733	ENSP00000357130:E733V;ENSP00000357129:E733V	ENSP00000357129:E733V	E	-	2	0	SPTA1	156902752	1.000000	0.71417	0.968000	0.41197	0.285000	0.27093	6.801000	0.75170	1.903000	0.55091	0.528000	0.53228	GAG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	T	NM_003126	-		158636128	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	SNP	1.000	A	A	158636128	T	A	158636128	3	1	105	1	0	0	0	0	1	0	0	0	15123	1551	54	5	5209	5	SPTA1	1	158636128	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09	83563780	158636128	90614493	4	6842											
MYBPH	4608	genome.wustl.edu	37	chr1	203141135	203141135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcggatgtaggtctgaCggaggtggcgggggacacgg	21	8	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:203141135C>T	ENST00000255416.4	-	4	599	c.542G>A	c.(541-543)cGt>cAt	p.R181H		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	181	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GTAGGTCTGACGGAGGTGGCG	0.602																																					NSCLC(32;174 1025 14462 23899 42933)												0								ENSG00000133055						32	31	31					1																	203141135		2203	4300	6503	MYBPH	SO:0001583	missense	0			-	HGNC	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.542G>A	1.37:g.203141135C>T	ENSP00000255416:p.Arg181His	Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	21	56.25	Q16886|Q86YC5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R181H	ENST00000255416.4	37	c.542	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848311	0.91277	.	.	ENSG00000133055	ENST00000255416	T	0.54071	0.59	4.84	4.84	0.62591	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	T	0.78155	0.4239	M	0.90650	3.135	0.53688	D	0.999974	D	0.89917	1.0	D	0.79784	0.993	T	0.83129	-0.0114	10	0.87932	D	0	.	18.1051	0.89517	0.0:1.0:0.0:0.0	.	181	Q13203	MYBPH_HUMAN	H	181	ENSP00000255416:R181H	ENSP00000255416:R181H	R	-	2	0	MYBPH	201407758	0.792000	0.28813	1.000000	0.80357	0.992000	0.81027	2.137000	0.42130	2.666000	0.90696	0.561000	0.74099	CGT	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom		0.602	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	protein_coding	OTTHUMT00000100264.1	C	NM_004997	-		203141135	-1	no_errors	ENST00000255416	ensembl	human	known	74_37	missense	SNP	1.000	T	T	203141135	C	T	203141135	3	4	105	1	0	0	0	0	1	0	0	0	10016	536	19	1	919	1	MYBPH	1	203141135	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	44505007	203141135	46109486	5	6843											
DTL	51514	genome.wustl.edu	37	chr1	212274107	212274107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatctgtgctgccttgCtggtaaccaggaagacctta	11	9	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:212274107C>T	ENST00000366991.4	+	14	2089	c.1775C>T	c.(1774-1776)gCt>gTt	p.A592V	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.A550V|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	592					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TGCTGCCTTGCTGGTAACCAG	0.453																																																	0								ENSG00000143476						123	120	121					1																	212274107		2203	4300	6503	DTL	SO:0001583	missense	0			-	HGNC	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1775C>T	1.37:g.212274107C>T	ENSP00000355958:p.Ala592Val	Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	17	46.88	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A592V	ENST00000366991.4	37	c.1775	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246358	0.39697	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.72725	-0.61;-0.68	5.95	5.05	0.67936	.	0.866916	0.10543	N	0.662453	T	0.55593	0.1930	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.09377	0.004;0.003;0.002	T	0.42548	-0.9445	10	0.30078	T	0.28	-31.0273	7.8533	0.29468	0.0:0.7223:0.134:0.1438	.	550;592;550	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	V	592;550;271	ENSP00000355958:A592V;ENSP00000443870:A550V	ENSP00000355958:A592V	A	+	2	0	DTL	210340730	0.004000	0.15560	0.885000	0.34714	0.996000	0.88848	0.802000	0.27069	1.535000	0.49220	-0.136000	0.14681	GCT	-	NULL		0.453	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	protein_coding	OTTHUMT00000090182.1	C	NM_016448	-		212274107	1	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	SNP	0.038	T	T	212274107	C	T	212274107	3	4	105	1	0	0	0	0	1	0	0	0	4789	797	28	2	1829	2	DTL	1	212274107	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	9132972	212274107	36976514	6	6844											
OBSCN	84033	genome.wustl.edu	37	chr1	228520959	228520959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgccccaggtggtggAggagctgagagacctccagg	16	12	0	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr1:228520959A>G	ENST00000422127.1	+	58	15835	c.15791A>G	c.(15790-15792)gAg>gGg	p.E5264G	OBSCN_ENST00000366707.4_Missense_Mutation_p.E2898G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5264G|OBSCN_ENST00000570156.2_Missense_Mutation_p.E6221G|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2383G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5264	Ig-like 50.				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)				CAGGTGGTGGAGGAGCTGAGA	0.622																																																	0								ENSG00000154358						12	15	14					1																	228520959		1990	4146	6136	OBSCN	SO:0001583	missense	0			-	HGNC	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.15791A>G	1.37:g.228520959A>G	ENSP00000409493:p.Glu5264Gly	Somatic	0	43	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E5264G	ENST00000422127.1	37	c.15791	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.164589	0.94727	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069810	0.56097	D	0.000027	T	0.79251	0.4414	M	0.71871	2.18	0.44409	D	0.997326	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.951	T	0.77021	-0.2742	10	0.27082	T	0.32	.	15.3938	0.74774	1.0:0.0:0.0:0.0	.	5264;5264	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	5264;5264;2898;2383	ENSP00000284548:E5264G;ENSP00000409493:E5264G;ENSP00000355668:E2898G;ENSP00000355670:E2383G	ENSP00000284548:E5264G	E	+	2	0	OBSCN	226587582	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.195000	0.89723	2.215000	0.71742	0.459000	0.35465	GAG	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		A	NM_052843	-		228520959	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	1.000	G	G	228520959	A	G	228520959	3	3	105	1	0	0	0	0	1	0	0	0	10814	304	11	5	16017	5	OBSCN	1	228520959	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09	16246852	228520959	20729662	7	6845											
CCDC138	165055	genome.wustl.edu	37	chr2	109408168	109408168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctttccatgatttgaagAaacaggaaacagaagaagag	9	5	1	6			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr2:109408168A>G	ENST00000295124.4	+	4	364	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.K102E	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	102										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGATTTGAAGAAACAGGAAAC	0.274																																																	0								ENSG00000163006						84	101	95					2																	109408168		2198	4281	6479	CCDC138	SO:0001583	missense	0			-	HGNC	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.304A>G	2.37:g.109408168A>G	ENSP00000295124:p.Lys102Glu	Somatic	0	68	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	25	52.83	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP							NULL	p.K102E	ENST00000295124.4	37	c.304	CCDS2080.1	2	.	.	.	.	.	.	.	.	.	.	A	9.006	0.981199	0.18812	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.89875	-2.58;-2.58	5.77	2.66	0.31614	.	0.616794	0.15393	N	0.264697	T	0.69602	0.3129	N	0.08118	0	0.22317	N	0.999205	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.56854	-0.7910	10	0.05525	T	0.97	2.122	3.3665	0.07206	0.2568:0.5313:0.113:0.099	.	102;102	Q96M89-2;Q96M89	.;CC138_HUMAN	E	102	ENSP00000411800:K102E;ENSP00000295124:K102E	ENSP00000295124:K102E	K	+	1	0	CCDC138	108774600	0.916000	0.31088	0.962000	0.40283	0.897000	0.52465	1.308000	0.33528	0.608000	0.30000	0.533000	0.62120	AAA	-	NULL		0.274	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC138	protein_coding	OTTHUMT00000253593.1	A	NM_144978	-		109408168	1	no_errors	ENST00000295124	ensembl	human	known	74_37	missense	SNP	0.627	G	G	109408168	A	G	109408168	3	3	105	1	0	0	0	0	1	0	0	0	2774	247	9	5	318	5	CCDC138	2	109408168	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09		109408168	133791205	8	6846											
ANKRD44	91526	genome.wustl.edu	37	chr2	197870436	197870436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgtaacaagcccagtGcagcggcgtgtagccttggt	12	11	0	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr2:197870436G>A	ENST00000328737.2	-	21	2330	c.2254C>T	c.(2254-2256)Cac>Tac	p.H752Y	ANKRD44_ENST00000450567.1_Missense_Mutation_p.H752Y|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H769Y|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H752Y			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	777										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAAGCCCAGTGCAGCGGCGTG	0.527																																																	0								ENSG00000065413						99	89	93					2																	197870436		2203	4300	6503	ANKRD44	SO:0001583	missense	0			-	HGNC	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2254C>T	2.37:g.197870436G>A	ENSP00000331516:p.His752Tyr	Somatic	0	16	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H752Y	ENST00000328737.2	37	c.2254		2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605488	0.87157	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.77313	2.365	0.80722	D	1	D	0.56521	0.976	D	0.73380	0.98	D	0.88380	0.3001	10	0.54805	T	0.06	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	795	Q8N8A2-2	.	Y	592;769;752;752;752	ENSP00000403415:H592Y;ENSP00000282272:H769Y;ENSP00000331516:H752Y;ENSP00000402420:H752Y;ENSP00000338794:H752Y	ENSP00000282272:H769Y	H	-	1	0	ANKRD44	197578681	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.657000	0.98554	2.767000	0.95098	0.655000	0.94253	CAC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.527	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	protein_coding	OTTHUMT00000335113.1	G	NM_153697	-		197870436	-1	no_errors	ENST00000328737	ensembl	human	known	74_37	missense	SNP	1.000	A	A	197870436	G	A	197870436	3	1	105	1	0	0	0	0	1	0	0	0	672	1319	46	2	529	2	ANKRD44	2	197870436	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09	88462268	197870436	45328937	9	6847											
COL6A5	256076	genome.wustl.edu	37	chr3	130113771	130113771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgacgtgattttcctttgcGatggctctgacagggtatct	11	9	2	3	rs190666668	byFrequency	TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr3:130113771G>T	ENST00000432398.2	+	8	3525	c.3031G>T	c.(3031-3033)Gat>Tat	p.D1011Y	COL6A5_ENST00000265379.6_Missense_Mutation_p.D1011Y	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1011	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTCCTTTGCGATGGCTCTGA	0.338																																																	0								ENSG00000172752						88	71	76					3																	130113771		692	1591	2283	COL6A5	SO:0001583	missense	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3031G>T	3.37:g.130113771G>T	ENSP00000390895:p.Asp1011Tyr	Somatic	0	29	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1011Y	ENST00000432398.2	37	c.3031		3	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263623	0.59431	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.97994	-4.65;-4.65	5.53	5.53	0.82687	.	.	.	.	.	D	0.98648	0.9547	M	0.81942	2.565	0.46336	D	0.998993	D	0.89917	1.0	D	0.97110	1.0	D	0.99690	1.1001	9	0.87932	D	0	.	16.3798	0.83452	0.0:0.0:1.0:0.0	.	1011	A8TX70-2	.	Y	1011	ENSP00000390895:D1011Y;ENSP00000265379:D1011Y	ENSP00000265379:D1011Y	D	+	1	0	COL6A5	131596461	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.875000	0.87205	2.611000	0.88343	0.491000	0.48974	GAT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.338	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		G	NM_153264	-		130113771	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	SNP	0.999	T	T	130113771	G	T	130113771	3	4	105	1	0	0	0	0	1	0	0	0	3704	1058	37	3	3057	3	COL6A5	3	130113771	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09		130113771	67908659	10	6848											
HTT	3064	genome.wustl.edu	37	chr4	3214355	3214355	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcacagtacctggtggtGgtctccaaactgcccagtca	11	13	2	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr4:3214355G>T	ENST00000355072.5	+	49	6838	c.6693G>T	c.(6691-6693)gtG>gtT	p.V2231V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2231					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTGGTGGTGGTCTCCAAAC	0.572																																																	0								ENSG00000197386						115	118	117					4																	3214355		1989	4166	6155	HTT	SO:0001819	synonymous_variant	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6693G>T	4.37:g.3214355G>T		Somatic	0	50	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	95	12.84	Q9UQB7	Silent	SNP							pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.V2231	ENST00000355072.5	37	c.6693	CCDS43206.1	4																																																																																			-	pfam_Huntingtin_middle-repeat		0.572	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	G	NM_002111	-		3214355	1	no_errors	ENST00000355072	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3214355	G	T	3214355	2	4	105	1	0	0	0	0	0	0	0	1	7459	1335	47	3		3	HTT	4	3214355	Silent	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09		3214355	187939921	11	6849											
FBXW7	55294	genome.wustl.edu	37	chr4	153271229	153271229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgcatggtttctttccCaaagaaaaagagcggacctc	8	10	1	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr4:153271229C>T	ENST00000281708.4	-	3	1778	c.549G>A	c.(547-549)ttG>ttA	p.L183L	FBXW7_ENST00000263981.5_Silent_p.L103L|FBXW7_ENST00000603548.1_Silent_p.L183L|FBXW7_ENST00000296555.5_Silent_p.L65L|FBXW7_ENST00000603841.1_Silent_p.L183L|FBXW7_ENST00000393956.3_5'Flank	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	183					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTTCTTTCCCAAAGAAAAAG	0.299			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0								ENSG00000109670						28	29	28					4																	153271229		2191	4285	6476	FBXW7	SO:0001819	synonymous_variant	0			-	HGNC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.549G>A	4.37:g.153271229C>T		Somatic	0	48	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	65	26.14	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP							pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L183	ENST00000281708.4	37	c.549	CCDS3777.1	4																																																																																			-	NULL		0.299	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	protein_coding	OTTHUMT00000469956.1	C		-		153271229	-1	no_errors	ENST00000281708	ensembl	human	known	74_37	silent	SNP	1.000	T	T	153271229	C	T	153271229	2	4	105	1	0	0	0	0	0	0	0	1	5771	593	21	2		2	FBXW7	4	153271229	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	150056874	153271229	37883047	12	6850											
DCHS2	54798	genome.wustl.edu	37	chr4	155254432	155254432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcctgaggaacgctggGtggttgtcattgacatccat	14	8	1	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr4:155254432G>A	ENST00000357232.4	-	9	1430	c.1431C>T	c.(1429-1431)caC>caT	p.H477H	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.H976H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	477	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)			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)		GGAACGCTGGGTGGTTGTCAT	0.607																																																	0								ENSG00000197410						120	104	109					4																	155254432		2203	4300	6503	DCHS2	SO:0001819	synonymous_variant	0			-	HGNC	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.1431C>T	4.37:g.155254432G>A		Somatic	0	21	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H477	ENST00000357232.4	37	c.1431	CCDS3785.1	4																																																																																			-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.607	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	G	NM_001142552	-		155254432	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	silent	SNP	0.560	A	A	155254432	G	A	155254432	2	1	105	1	0	0	0	0	0	0	0	1	4290	1252	44	2		2	DCHS2	4	155254432	Silent	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09	1983203	155254432	35899844	13	6851											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730100	140730100	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtaggatagatcgagagaaGatttgcggaaggaaacttga	15	3	0	4			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr5:140730100G>T	ENST00000523390.1	+	1	273	c.273G>T	c.(271-273)aaG>aaT	p.K91N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	91	Cadherin 1. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGAGAGAAGATTTGCGGAA	0.428											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000254221						89	85	86					5																	140730100		1862	4104	5966	PCDHGB1	SO:0001583	missense	0			-	HGNC	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.273G>T	5.37:g.140730100G>T	ENSP00000429273:p.Lys91Asn	Somatic	0	29	0	1658	0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	16	58.97	Q3SY75|Q9Y5C8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K91N	ENST00000523390.1	37	c.273	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	13.14	2.148278	0.37923	.	.	ENSG00000254221	ENST00000523390	T	0.28069	1.63	5.46	2.58	0.30949	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.29716	0.0742	L	0.49640	1.575	0.22401	N	0.999139	B;B	0.33345	0.143;0.409	B;B	0.36030	0.133;0.216	T	0.21586	-1.0241	9	0.66056	D	0.02	.	8.9962	0.36055	0.317:0.0:0.683:0.0	.	91;91	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	N	91	ENSP00000429273:K91N	ENSP00000429273:K91N	K	+	3	2	PCDHGB1	140710284	0.007000	0.16637	0.998000	0.56505	0.793000	0.44817	0.730000	0.26043	0.735000	0.32537	0.563000	0.77884	AAG	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	protein_coding	OTTHUMT00000374740.1	G	NM_018922	-		140730100	1	no_errors	ENST00000523390	ensembl	human	known	74_37	missense	SNP	0.994	T	T	140730100	G	T	140730100	3	4	105	1	0	0	0	0	1	0	0	0	11564	933	33	3	275	3	PCDHGB1	5	140730100	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09		140730100	40185160	14	6852											
SPINK5	11005	genome.wustl.edu	37	chr5	147506574	147506574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctttggaaagggcaaagCttcaagaaaagccatcccat	9	9	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr5:147506574C>T	ENST00000256084.7	+	30	2938	c.2896C>T	c.(2896-2898)Ctt>Ttt	p.L966F	SPINK5_ENST00000359874.3_Missense_Mutation_p.L996F	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	966	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGGCAAAGCTTCAAGAAAA	0.363																																																	0								ENSG00000133710						56	53	54					5																	147506574		1799	4072	5871	SPINK5	SO:0001583	missense	0			-	HGNC	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2896C>T	5.37:g.147506574C>T	ENSP00000256084:p.Leu966Phe	Somatic	0	18	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	26	48.00	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP							pfam_Kazal_dom,smart_Kazal_dom	p.L996F	ENST00000256084.7	37	c.2986	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514618	0.04200	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.45668	0.89;0.9	3.89	-4.64	0.03349	Proteinase inhibitor I1, Kazal (1);	1.985540	0.02341	N	0.074848	T	0.20861	0.0502	N	0.16478	0.41	0.09310	N	1	B;B	0.19445	0.036;0.006	B;B	0.21151	0.02;0.033	T	0.09707	-1.0662	10	0.10111	T	0.7	1.214	2.5504	0.04747	0.1612:0.5434:0.1041:0.1913	.	996;966	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	F	996;966	ENSP00000352936:L996F;ENSP00000256084:L966F	ENSP00000256084:L966F	L	+	1	0	SPINK5	147486767	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.849000	0.04322	-0.975000	0.03546	0.650000	0.86243	CTT	-	smart_Kazal_dom		0.363	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	protein_coding	OTTHUMT00000259215.2	C	NM_001127698	-		147506574	1	no_errors	ENST00000359874	ensembl	human	known	74_37	missense	SNP	0.000	T	T	147506574	C	T	147506574	3	4	105	1	0	0	0	0	1	0	0	0	15069	797	28	2	3120	2	SPINK5	5	147506574	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	6776474	147506574	33408686	15	6853											
CDYL	9425	genome.wustl.edu	37	chr6	4935802	4935802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggacaaccaacatacagAcatctgttacaggagtgact	9	9	1	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr6:4935802A>G	ENST00000328908.5	+	5	1038	c.907A>G	c.(907-909)Aca>Gca	p.T303A	CDYL_ENST00000397588.3_Missense_Mutation_p.T249A|CDYL_ENST00000343762.5_Missense_Mutation_p.T117A|CDYL_ENST00000449732.2_Missense_Mutation_p.T117A|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	303	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAACATACAGACATCTGTTAC	0.468																																																	0								ENSG00000153046						92	88	90					6																	4935802		2203	4300	6503	CDYL	SO:0001583	missense	0			-	HGNC	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.907A>G	6.37:g.4935802A>G	ENSP00000330512:p.Thr303Ala	Somatic	0	41	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.77	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP							pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.T303A	ENST00000328908.5	37	c.907		6	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903676	0.72754	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.55930	0.87;0.5;0.49;0.49	6.03	4.86	0.63082	.	0.110178	0.64402	D	0.000011	T	0.45875	0.1364	M	0.68952	2.095	0.47547	D	0.999457	P;P	0.39903	0.694;0.638	P;B	0.46237	0.508;0.387	T	0.52518	-0.8565	10	0.66056	D	0.02	.	10.7736	0.46338	0.9234:0.0:0.0766:0.0	.	249;303	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	A	303;29;249;117;117	ENSP00000330512:T303A;ENSP00000380718:T249A;ENSP00000394076:T117A;ENSP00000340908:T117A	ENSP00000330512:T303A	T	+	1	0	CDYL	4880801	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.322000	0.59215	1.090000	0.41315	0.529000	0.55759	ACA	-	NULL		0.468	CDYL-001	KNOWN	basic	protein_coding	CDYL	protein_coding	OTTHUMT00000039736.1	A	NM_004824	-		4935802	1	no_errors	ENST00000328908	ensembl	human	known	74_37	missense	SNP	1.000	G	G	4935802	A	G	4935802	3	3	105	1	0	0	0	0	1	0	0	0	3187	275	10	5	755	5	CDYL	6	4935802	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09		4935802	166179265	16	6854											
GPRC6A	222545	genome.wustl.edu	37	chr6	117113915	117113915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagtaggtgctgcaaagAttagccagagtgtgcaaatg	12	7	0	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr6:117113915A>G	ENST00000310357.3	-	6	2192	c.2171T>C	c.(2170-2172)aTc>aCc	p.I724T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.I653T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.I549T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	724					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)			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)		TGCTGCAAAGATTAGCCAGAG	0.478																																																	0								ENSG00000173612						77	72	74					6																	117113915		2203	4300	6503	GPRC6A	SO:0001583	missense	0			-	HGNC	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.2171T>C	6.37:g.117113915A>G	ENSP00000309493:p.Ile724Thr	Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP							pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.I724T	ENST00000310357.3	37	c.2171	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	A	0.268	-0.994632	0.02145	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.89196	-2.48;-2.48;-2.48	4.37	3.21	0.36854	GPCR, family 3, C-terminal (2);	0.692519	0.12698	N	0.446581	T	0.62221	0.2410	N	0.16708	0.43	0.09310	N	1	B;B;B	0.20550	0.046;0.019;0.003	B;B;B	0.20184	0.025;0.028;0.026	T	0.52124	-0.8617	10	0.20046	T	0.44	.	7.9474	0.29995	0.8308:0.0:0.1692:0.0	.	653;549;724	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	T	724;653;549	ENSP00000309493:I724T;ENSP00000357537:I653T;ENSP00000433465:I549T	ENSP00000309493:I724T	I	-	2	0	GPRC6A	117220608	0.019000	0.18553	0.004000	0.12327	0.236000	0.25371	2.452000	0.44961	0.733000	0.32492	-0.326000	0.08463	ATC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.478	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	A		-		117113915	-1	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	SNP	0.001	G	G	117113915	A	G	117113915	3	3	105	1	0	0	0	0	1	0	0	0	6730	333	12	5	613	5	GPRC6A	6	117113915	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09	112178113	117113915	54001152	17	6855											
MED23	9439	genome.wustl.edu	37	chr6	131941854	131941857	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													taagcaggcatttctttccaAgatatatgctataacctaag					rs377538332		TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr6:131941854_131941857delAGAT	ENST00000368068.3	-	7	687_690	c.508_511delATCT	c.(508-513)atcttgfs	p.IL170fs	MED23_ENST00000368060.3_Frame_Shift_Del_p.IL170fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.IL170fs|MED23_ENST00000539158.1_Frame_Shift_Del_p.IL170fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.IL170fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.IL170fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.IL170fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.IL170fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	170					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTTCTTTCCAAGATATATGCTATA	0.319																																																	0								ENSG00000112282																																			MED23	SO:0001589	frameshift_variant	0				HGNC	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.508_511delATCT	6.37:g.131941854_131941857delAGAT	ENSP00000357047:p.Ile170fs	Somatic	0	24	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL							pfam_Mediator_Med23	p.I170fs	ENST00000368068.3	37	c.511_508	CCDS5147.1	6																																																																																			-	pfam_Mediator_Med23		0.319	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	protein_coding	OTTHUMT00000042215.1	AGAT				131941857	-1	no_errors	ENST00000368058	ensembl	human	known	74_37	frame_shift_del	DEL	0.970:0.963:1.000:1.000	-	-	131941857	AGAT	-	131941854	7	5	105	1	0	1	0	1	0	0	0	0	9443	69	3	0	3716	0	MED23	6	131941854	Frame_Shift_Del	DEL	AGAT	TCGA-DX-A8BS-01A-11D-A37C-09	14827939	131941854	39173213	18	6856											
FERD3L	222894	genome.wustl.edu	37	chr7	19184906	19184906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtcgcagaggagagggCgtctcggggaggccagggac	20	9	1	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr7:19184906C>T	ENST00000275461.3	-	1	138	c.80G>A	c.(79-81)cGc>cAc	p.R27H	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	27					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GAGGAGAGGGCGTCTCGGGGA	0.677																																																	0								ENSG00000146618						37	36	36					7																	19184906		2203	4300	6503	FERD3L	SO:0001583	missense	0			-	HGNC	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.80G>A	7.37:g.19184906C>T	ENSP00000275461:p.Arg27His	Somatic	0	37	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	89	8.25	Q495K0	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R27H	ENST00000275461.3	37	c.80	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141071	0.21205	.	.	ENSG00000146618	ENST00000275461	D	0.96200	-3.94	5.66	-3.06	0.05379	.	0.931729	0.09018	N	0.860560	T	0.81819	0.4903	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73953	-0.3820	10	0.14656	T	0.56	-4.9157	4.4391	0.11564	0.1132:0.4656:0.1152:0.306	.	27	Q96RJ6	FER3L_HUMAN	H	27	ENSP00000275461:R27H	ENSP00000275461:R27H	R	-	2	0	FERD3L	19151431	0.003000	0.15002	0.768000	0.31515	0.698000	0.40448	-0.394000	0.07296	-0.408000	0.07565	-0.312000	0.09012	CGC	-	NULL		0.677	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	protein_coding	OTTHUMT00000207627.1	C		-		19184906	-1	no_errors	ENST00000275461	ensembl	human	known	74_37	missense	SNP	0.027	T	T	19184906	C	T	19184906	3	4	105	1	0	0	0	0	1	0	0	0	5818	768	27	1	424	1	FERD3L	7	19184906	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09		19184906	139953757	19	6857											
PCLO	27445	genome.wustl.edu	37	chr7	82544871	82544871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggtaataatgagaaagaCcagcaaggtgatctaagctc	10	7	1	3			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr7:82544871C>A	ENST00000333891.9	-	7	12768	c.12431G>T	c.(12430-12432)gGt>gTt	p.G4144V	PCLO_ENST00000437081.1_Missense_Mutation_p.G864V|PCLO_ENST00000423517.2_Missense_Mutation_p.G4144V	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						ATGAGAAAGACCAGCAAGGTG	0.398																																																	0								ENSG00000186472						136	127	130					7																	82544871		1891	4113	6004	PCLO	SO:0001583	missense	0			-	HGNC	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.12431G>T	7.37:g.82544871C>A	ENSP00000334319:p.Gly4144Val	Somatic	0	32	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	48	28.36		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.G4144V	ENST00000333891.9	37	c.12431	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888188	0.52014	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.27890	1.64;1.65	5.57	5.57	0.84162	.	.	.	.	.	T	0.57272	0.2042	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.71656	0.796;0.974;0.974	T	0.59573	-0.7429	9	0.87932	D	0	.	19.5537	0.95331	0.0:1.0:0.0:0.0	.	4075;4144;4144	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	4144;4144;864	ENSP00000334319:G4144V;ENSP00000388393:G4144V	ENSP00000334319:G4144V	G	-	2	0	PCLO	82382807	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.089000	0.71384	2.614000	0.88457	0.557000	0.71058	GGT	-	NULL		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82544871	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82544871	C	A	82544871	3	1	105	1	0	0	0	0	1	0	0	0	11585	507	18	3	3090	3	PCLO	7	82544871	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	63359965	82544871	76593792	20	6858											
GIMAP1	170575	genome.wustl.edu	37	chr7	150417384	150417384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaagacagatcctggcTgtgaggagagaggtcactgc	14	9	1	4			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr7:150417384T>A	ENST00000307194.5	+	3	432	c.292T>A	c.(292-294)Tgt>Agt	p.C98S		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	98	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATCCTGGCTGTGAGGAGAG	0.652																																																	0								ENSG00000213203						51	46	48					7																	150417384		2203	4300	6503	GIMAP1	SO:0001583	missense	0			-	HGNC	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.292T>A	7.37:g.150417384T>A	ENSP00000302833:p.Cys98Ser	Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	40	43.66	B2RCI3|Q8NAZ0	Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.C98S	ENST00000307194.5	37	c.292	CCDS5906.1	7	.	.	.	.	.	.	.	.	.	.	T	7.133	0.580352	0.13686	.	.	ENSG00000213203	ENST00000307194	T	0.60171	0.21	4.5	0.662	0.17880	AIG1 (1);	1.648980	0.03703	U	0.248939	T	0.46190	0.1380	L	0.31526	0.94	0.09310	N	1	B	0.11235	0.004	B	0.31101	0.124	T	0.26360	-1.0105	10	0.22109	T	0.4	.	4.0011	0.09580	0.0:0.2092:0.2054:0.5855	.	98	Q8WWP7	GIMA1_HUMAN	S	98	ENSP00000302833:C98S	ENSP00000302833:C98S	C	+	1	0	GIMAP1	150048317	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.269000	0.08596	0.264000	0.21851	-0.290000	0.09829	TGT	-	pfam_AIG1,superfamily_P-loop_NTPase		0.652	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	protein_coding	OTTHUMT00000348951.2	T	NM_130759	-		150417384	1	no_errors	ENST00000307194	ensembl	human	known	74_37	missense	SNP	0.000	A	A	150417384	T	A	150417384	3	1	105	1	0	0	0	0	1	0	0	0	6381	1580	55	5	298	5	GIMAP1	7	150417384	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09	67872513	150417384	8721279	21	6859											
LRRCC1	85444	genome.wustl.edu	37	chr8	86041607	86041607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaaaggcagcagcaggCagcacaggtatttctctatt	9	9	1	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr8:86041607C>T	ENST00000360375.3	+	10	1768	c.1619C>T	c.(1618-1620)gCa>gTa	p.A540V	LRRCC1_ENST00000414626.2_Missense_Mutation_p.A520V	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	540					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CAGCAGCAGGCAGCACAGGTA	0.333																																																	0								ENSG00000133739						77	82	80					8																	86041607		1856	4102	5958	LRRCC1	SO:0001583	missense	0			-	HGNC	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1619C>T	8.37:g.86041607C>T	ENSP00000353538:p.Ala540Val	Somatic	0	31	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	36	36.84	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_Prefoldin	p.A540V	ENST00000360375.3	37	c.1619	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	C	6.467	0.454317	0.12283	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.35048	1.33;1.34	5.58	0.657	0.17850	.	0.907335	0.09073	N	0.852545	T	0.35098	0.0920	M	0.72118	2.19	0.19300	N	0.999978	B;B;B;B	0.10296	0.001;0.001;0.003;0.002	B;B;B;B	0.11329	0.004;0.004;0.004;0.006	T	0.33497	-0.9866	10	0.30854	T	0.27	0.0308	7.165	0.25685	0.1113:0.6355:0.0:0.2532	.	447;520;447;540	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	V	540;520	ENSP00000353538:A540V;ENSP00000394695:A520V	ENSP00000353538:A540V	A	+	2	0	LRRCC1	86228859	0.152000	0.22762	0.011000	0.14972	0.482000	0.33219	1.065000	0.30592	0.120000	0.18254	-0.143000	0.13931	GCA	-	NULL		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	protein_coding	OTTHUMT00000380267.1	C	NM_033402	-		86041607	1	no_errors	ENST00000360375	ensembl	human	known	74_37	missense	SNP	0.033	T	T	86041607	C	T	86041607	3	4	105	1	0	0	0	0	1	0	0	0	9028	710	25	2	1657	2	LRRCC1	8	86041607	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09		86041607	60322415	22	6860											
GRHL2	79977	genome.wustl.edu	37	chr8	102661670	102661670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgaggaaggagactgaCgatgtgttcgatgcattgat	14	5	0	4			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr8:102661670C>T	ENST00000251808.3	+	14	1979	c.1641C>T	c.(1639-1641)gaC>gaT	p.D547D	GRHL2_ENST00000517674.1_Intron|GRHL2_ENST00000395927.1_Silent_p.D531D	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	547					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGGAGACTGACGATGTGTTCG	0.537																																																	0								ENSG00000083307						204	151	169					8																	102661670		2203	4300	6503	GRHL2	SO:0001819	synonymous_variant	0			-	HGNC	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1641C>T	8.37:g.102661670C>T		Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	57	16.18	A1L303|Q6NT03|Q9H8B8	Silent	SNP							pfam_CP2	p.D547	ENST00000251808.3	37	c.1641	CCDS34931.1	8																																																																																			-	NULL		0.537	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	protein_coding	OTTHUMT00000313882.1	C	NM_024915	-		102661670	1	no_errors	ENST00000251808	ensembl	human	known	74_37	silent	SNP	0.994	T	T	102661670	C	T	102661670	2	4	105	1	0	0	0	0	0	0	0	1	6766	535	19	1		1	GRHL2	8	102661670	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	16620063	102661670	43702352	23	6861											
PTPLA	9200	genome.wustl.edu	37	chr10	17646048	17646049	+	Splice_Site	INS	-	-	A													atagctagaaccaaccacctINSaaaaaaaaaaagtatttcat					rs76004443		TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0								ENSG00000165996																																			PTPLA	SO:0001630	splice_region_variant	0				HGNC	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA		Somatic	0	22	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS							-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			-	-		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	protein_coding	OTTHUMT00000047046.1	-	NM_014241		Intron	17646049	-1	no_errors	ENST00000361271	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.005	A	A	17646049	-	A	17646048	8	5	105	1	0	1	1	0	0	0	1	0	12780	1536	53	0	634	0	PTPLA	10	17646048	Splice_Site	INS	-	TCGA-DX-A8BS-01A-11D-A37C-09		17646048	117888699	24	6862											
C10orf140	387640	genome.wustl.edu	37	chr10	21805483	21805483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccctcctcctcctcttcCtcctcctcctcctctccctc	0	28	2	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr10:21805483C>T	ENST00000449193.2	-	4	3521	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	SKIDA1_ENST00000444772.3_Silent_p.E344E|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											cctcctcttcctcctcctcct	0.627																																																	0								ENSG00000180592						5	6	6					10																	21805483		2007	4123	6130	SKIDA1	SO:0001819	synonymous_variant	0			-	HGNC	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1269G>A	10.37:g.21805483C>T		Somatic	0	33	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP							pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E423	ENST00000449193.2	37	c.1269	CCDS44363.1	10																																																																																			-	NULL		0.627	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	protein_coding	OTTHUMT00000286950.2	C	NM_207371	-		21805483	-1	no_errors	ENST00000449193	ensembl	human	known	74_37	silent	SNP	0.410	T	T	21805483	C	T	21805483	2	4	105	1	0	0	0	0	0	0	0	1	1597	680	24	2		2	C10orf140	10	21805483	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	4159435	21805483	113729264	25	6863											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798716	55798716	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagacactgataaggtggtGgcagtgttttatactgttgt	12	5	0	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr11:55798716G>T	ENST00000313555.1	+	1	822	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	274						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)					ATAAGGTGGTGGCAGTGTTTT	0.388																																																	0								ENSG00000181785						81	73	76					11																	55798716		2201	4296	6497	OR5AS1	SO:0001819	synonymous_variant	0			-	HGNC	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.822G>T	11.37:g.55798716G>T		Somatic	0	34	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	70	10.26	Q6IFB8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V274	ENST00000313555.1	37	c.822	CCDS31516.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.388	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	protein_coding	OTTHUMT00000391538.1	G	NM_001001921	-		55798716	1	no_errors	ENST00000313555	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55798716	G	T	55798716	2	4	105	1	0	0	0	0	0	0	0	1	11148	1335	47	3		3	OR5AS1	11	55798716	Silent	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09		55798716	79207800	26	6864											
OR5AK2	390181	genome.wustl.edu	37	chr11	56756816	56756816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgaacagtctgcatccGtttggtagctggttcataca	10	11	2	0	rs200727671		TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr11:56756816G>A	ENST00000326855.2	+	1	470	c.428G>A	c.(427-429)cGt>cAt	p.R143H		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTCTGCATCCGTTTGGTAGCT	0.443																																																	0								ENSG00000181273	A	HIS/ARG	0,4402		0,0,2201	200	170	180		428	1.4	0	11		180	1,8591	818.8+/-406.8	0,1,4295	no	missense	OR5AK2	NM_001005323.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	143/310	56756816	1,12993	2201	4296	6497	OR5AK2	SO:0001583	missense	0			-	HGNC	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.428G>A	11.37:g.56756816G>A	ENSP00000322784:p.Arg143His	Somatic	0	24	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	B2RNZ9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R143H	ENST00000326855.2	37	c.428	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	A	0.059	-1.228296	0.01518	0.0	1.16E-4	ENSG00000181273	ENST00000326855	T	0.00130	8.69	3.85	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.905149	0.09098	N	0.848868	T	0.00073	0.0002	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02075	-1.1218	10	0.14656	T	0.56	2.8692	4.5631	0.12170	0.6374:0.1636:0.199:0.0	.	143	Q8NH90	O5AK2_HUMAN	H	143	ENSP00000322784:R143H	ENSP00000322784:R143H	R	+	2	0	OR5AK2	56513392	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	-1.009000	0.03660	-0.111000	0.12001	-1.220000	0.01600	CGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	protein_coding	OTTHUMT00000392446.1	G	NM_001005323	rs200727671		56756816	1	no_errors	ENST00000326855	ensembl	human	known	74_37	missense	SNP	0.002	A	A	56756816	G	A	56756816	3	1	105	1	0	0	0	0	1	0	0	0	11144	1145	40	1	430	1	OR5AK2	11	56756816	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09	958100	56756816	78249700	27	6865											
CD3G	917	genome.wustl.edu	37	chr11	118221340	118221340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgaaatcgtcagcattttCgtccttgctgttggggtcta	11	9	2	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr11:118221340C>A	ENST00000532917.1	+	4	449	c.381C>A	c.(379-381)ttC>ttA	p.F127L	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Intron	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	127					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCAGCATTTTCGTCCTTGCTG	0.468																																																	0								ENSG00000160654						196	169	178					11																	118221340		2200	4296	6496	CD3G	SO:0001583	missense	0			-	HGNC	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.381C>A	11.37:g.118221340C>A	ENSP00000431445:p.Phe127Leu	Somatic	0	42	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q2HIZ6	Missense_Mutation	SNP							pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.F127L	ENST00000532917.1	37	c.381	CCDS8395.1	11	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764092	0.15914	.	.	ENSG00000160654	ENST00000532917	T	0.49720	0.77	5.76	1.79	0.24919	.	0.313613	0.33057	N	0.005328	T	0.27559	0.0677	L	0.42581	1.335	0.80722	D	1	B	0.30033	0.266	B	0.26416	0.069	T	0.21621	-1.0240	10	0.02654	T	1	.	4.2688	0.10776	0.1689:0.5783:0.0:0.2528	.	127	P09693	CD3G_HUMAN	L	127	ENSP00000431445:F127L	ENSP00000431445:F127L	F	+	3	2	CD3G	117726550	0.108000	0.22018	0.985000	0.45067	0.968000	0.65278	-0.119000	0.10676	0.074000	0.16767	0.655000	0.94253	TTC	-	NULL		0.468	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3G	protein_coding	OTTHUMT00000392135.1	C	NM_000073	-		118221340	1	no_errors	ENST00000532917	ensembl	human	known	74_37	missense	SNP	0.980	A	A	118221340	C	A	118221340	3	1	105	1	0	0	0	0	1	0	0	0	3015	883	31	3	395	3	CD3G	11	118221340	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	61464524	118221340	16785176	28	6866											
ITGB7	3695	genome.wustl.edu	37	chr12	53589964	53589964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcagccgggacacaTttctccagccaatctgctcc	7	17	2	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr12:53589964T>A	ENST00000267082.5	-	7	1067	c.836A>T	c.(835-837)aAt>aTt	p.N279I	ITGB7_ENST00000338737.4_Missense_Mutation_p.N279I|ITGB7_ENST00000422257.3_Missense_Mutation_p.N279I|ITGB7_ENST00000550743.2_Missense_Mutation_p.N279I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	279	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGGGACACATTTCTCCAGCC	0.582																																																	0								ENSG00000139626						67	64	65					12																	53589964		2203	4300	6503	ITGB7	SO:0001583	missense	0			-	HGNC		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.836A>T	12.37:g.53589964T>A	ENSP00000267082:p.Asn279Ile	Somatic	0	27	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	59	13.24	Q9UCP7|Q9UCS7	Missense_Mutation	SNP							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.N279I	ENST00000267082.5	37	c.836	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457020	0.84317	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72	4.55	4.55	0.56014	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.39759	N	0.001268	D	0.98729	0.9573	M	0.88181	2.935	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	D	0.99655	1.0992	10	0.87932	D	0	.	13.566	0.61819	0.0:0.0:0.0:1.0	.	279	P26010	ITB7_HUMAN	I	279	ENSP00000408741:N279I;ENSP00000267082:N279I;ENSP00000345501:N279I;ENSP00000437375:N279I	ENSP00000267082:N279I	N	-	2	0	ITGB7	51876231	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.997000	0.88414	1.975000	0.57531	0.460000	0.39030	AAT	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.582	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	protein_coding	OTTHUMT00000405821.2	T		-		53589964	-1	no_errors	ENST00000267082	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53589964	T	A	53589964	3	1	105	1	0	0	0	0	1	0	0	0	7902	1493	52	5	1600	5	ITGB7	12	53589964	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09		53589964	80261931	29	6867											
SHISA2	387914	genome.wustl.edu	37	chr13	26620919	26620919	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcatggtcccttccggcaagCaacagttggtctgtgacctt	10	12	2	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr13:26620919C>G	ENST00000319420.3	-	2	675	c.620G>C	c.(619-621)tGc>tCc	p.C207S		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	207					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.C207F(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTCCGGCAAGCAACAGTTGGT	0.602																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)						ENSG00000180730						137	129	132					13																	26620919		2203	4300	6503	SHISA2	SO:0001583	missense	0			-	HGNC		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.620G>C	13.37:g.26620919C>G	ENSP00000313079:p.Cys207Ser	Somatic	0	31	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	56	48.18	B9EH70|Q5W0G8	Missense_Mutation	SNP							NULL	p.C207S	ENST00000319420.3	37	c.620	CCDS31951.1	13	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378034	0.82682	.	.	ENSG00000180730	ENST00000319420	T	0.43688	0.94	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.34521	1.04	0.80722	D	1	P	0.39094	0.659	B	0.40534	0.332	T	0.08452	-1.0721	10	0.23891	T	0.37	-43.8161	18.8611	0.92271	0.0:1.0:0.0:0.0	.	207	Q6UWI4	SHSA2_HUMAN	S	207	ENSP00000313079:C207S	ENSP00000313079:C207S	C	-	2	0	SHISA2	25518919	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.435000	0.80391	2.447000	0.82792	0.555000	0.69702	TGC	-	NULL		0.602	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA2	protein_coding	OTTHUMT00000044239.2	C	NM_001007538	-		26620919	-1	no_errors	ENST00000319420	ensembl	human	known	74_37	missense	SNP	1.000	G	G	26620919	C	G	26620919	3	3	105	1	0	0	0	0	1	0	0	0	14288	710	25	4	271	4	SHISA2	13	26620919	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09		26620919	88548959	30	6868											
RB1	5925	genome.wustl.edu	37	chr13	49039503	49039511	+	Splice_Site	DEL	AGGTGTGTG	AGGTGTGTG	-													caaaaatgactccaagatcaAggtgtgtgttttctctttag							TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	AGGTGTGTG	AGGTGTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr13:49039503_49039511delAGGTGTGTG	ENST00000267163.4	+	23	2626_2627	c.2488_2489delAGGTGTGTG	c.(2488-2490)agg>g	p.R830del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	830	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(14)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCAAGATCAAGGTGTGTGTTTTCTCTTT	0.364		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	29	Whole gene deletion(15)|Unknown(14)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|lung(1)|liver(1)	GRCh37	CS030560|CS030561	RB1	S		ENSG00000139687																																			RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2489+1AGGTGTGTG>-	13.37:g.49039503_49039511delAGGTGTGTG		Somatic					0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R830fs	ENST00000267163.4	37	c.2488_2489	CCDS31973.1	13																																																																																			-	pfam_RB_C		0.364	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	AGGTGTGTG			In_Frame_Del	49039511	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	49039511	AGGTGTGTG	-	49039503	8	5	105	1	0	1	0	1	0	0	1	0	13106	86	3	0	2578	0	RB1	13	49039503	Splice_Site	DEL	AGGTGTGTG	TCGA-DX-A8BS-01A-11D-A37C-09	22418584	49039503	66130375	31	6869											
MDGA2	161357	genome.wustl.edu	37	chr14	47426764	47426764	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcacccgtattggataggcTctcagtactctgcaactcat	8	12	3	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr14:47426764T>A	ENST00000399232.2	-	9	2059	c.1695A>T	c.(1693-1695)agA>agT	p.R565S	SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Missense_Mutation_p.R336S|MDGA2_ENST00000426342.1_Missense_Mutation_p.R336S|MDGA2_ENST00000439988.3_Missense_Mutation_p.R634S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	565	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGGATAGGCTCTCAGTACTC	0.473																																																	0								ENSG00000272781						96	96	96					14																	47426764		1973	4171	6144	MDGA2	SO:0001583	missense	0			-	Uniprot_gn	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1695A>T	14.37:g.47426764T>A	ENSP00000382178:p.Arg565Ser	Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	17	61.36	F6W3S7|J3KPX6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R634S	ENST00000399232.2	37	c.1902		14	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419918	0.62622	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.32	2.99	0.34606	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	U	0.000053	T	0.18635	0.0447	L	0.56769	1.78	0.80722	D	1	P;B	0.37500	0.597;0.343	B;P	0.46389	0.381;0.515	T	0.02257	-1.1187	10	0.31617	T	0.26	.	7.3334	0.26596	0.0:0.2397:0.0:0.7603	.	336;565	F6W3S7;Q7Z553	.;MDGA2_HUMAN	S	565;336;634;336	ENSP00000400011:R565S;ENSP00000405456:R336S;ENSP00000382178:R634S;ENSP00000349925:R336S	ENSP00000349925:R336S	R	-	3	2	MDGA2	46496514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.967000	0.29344	0.865000	0.35603	0.528000	0.53228	AGA	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	protein_coding	OTTHUMT00000073352.5	T	NM_182830	-		47426764	-1	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47426764	T	A	47426764	3	1	105	1	0	0	0	0	1	0	0	0	9409	1548	54	5	1211	5	MDGA2	14	47426764	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09		47426764	59922776	32	6870											
AHNAK2	113146	genome.wustl.edu	37	chr14	105410494	105410494	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacctccacgctgggcagaGacacctccacatcaggggct	10	17	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr14:105410494G>C	ENST00000333244.5	-	7	11413	c.11294C>G	c.(11293-11295)tCt>tGt	p.S3765C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3765						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGGGCAGAGACACCTCCAC	0.622																																																	0								ENSG00000185567						151	158	156					14																	105410494		1958	4140	6098	AHNAK2	SO:0001583	missense	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11294C>G	14.37:g.105410494G>C	ENSP00000353114:p.Ser3765Cys	Somatic	0	78	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	44	62.71	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S3765C	ENST00000333244.5	37	c.11294	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	15.30	2.791233	0.50102	.	.	ENSG00000185567	ENST00000333244	T	0.00745	5.75	4.26	1.18	0.20946	.	.	.	.	.	T	0.01387	0.0045	M	0.88775	2.98	0.09310	N	1	P	0.42941	0.794	B	0.35770	0.21	T	0.41928	-0.9481	9	0.62326	D	0.03	.	3.4975	0.07661	0.0845:0.1454:0.4712:0.2989	.	3765	Q8IVF2	AHNK2_HUMAN	C	3765	ENSP00000353114:S3765C	ENSP00000353114:S3765C	S	-	2	0	AHNAK2	104481539	0.038000	0.19896	0.000000	0.03702	0.024000	0.10985	2.188000	0.42612	-0.060000	0.13132	0.485000	0.47835	TCT	-	NULL		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	G	NM_138420	-		105410494	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	SNP	0.001	C	C	105410494	G	C	105410494	3	2	105	1	0	0	0	0	1	0	0	0	415	942	33	4	6097	4	AHNAK2	14	105410494	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09	57983730	105410494	1939046	33	6871											
TRPM1	4308	genome.wustl.edu	37	chr15	31327838	31327838	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatccatccgcaccaggaTgacgtagttaaacagcagca	9	13	0	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr15:31327838T>G	ENST00000256552.6	-	21	2758	c.2611A>C	c.(2611-2613)Atc>Ctc	p.I871L	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.I849L|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.I888L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGCACCAGGATGACGTAGTTA	0.498																																																	0								ENSG00000134160						107	110	109					15																	31327838		2018	4185	6203	TRPM1	SO:0001583	missense	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2611A>C	15.37:g.31327838T>G	ENSP00000256552:p.Ile871Leu	Somatic	0	38	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15		Missense_Mutation	SNP							pfam_Ion_trans_dom	p.I888L	ENST00000256552.6	37	c.2662	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119364	0.56505	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.51574	0.7;0.7;0.7	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.16098	0.37	0.49483	D	0.999792	B;B	0.25235	0.095;0.121	B;B	0.26416	0.069;0.068	T	0.24154	-1.0168	10	0.72032	D	0.01	-26.3114	15.3999	0.74830	0.0:0.0:0.0:1.0	.	843;849	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	849;888;871;849	ENSP00000380897:I849L;ENSP00000437849:I888L;ENSP00000256552:I871L	ENSP00000256552:I871L	I	-	1	0	TRPM1	29115130	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.179000	0.58290	2.043000	0.60533	0.533000	0.62120	ATC	-	NULL		0.498	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	T	NM_002420	-		31327838	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	SNP	1.000	G	G	31327838	T	G	31327838	3	3	105	1	0	0	0	0	1	0	0	0	16592	1464	51	5	2298	5	TRPM1	15	31327838	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09		31327838	71203554	34	6872											
DIS3L	115752	genome.wustl.edu	37	chr15	66625180	66625180	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggatcccttcaacgatttCaaaacaaaattacctctact	3	12	3	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr15:66625180C>A	ENST00000319212.4	+	16	2838	c.2788C>A	c.(2788-2790)Caa>Aaa	p.Q930K	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.Q847K	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	930					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAACGATTTCAAAACAAAAT	0.358																																																	0								ENSG00000166938						68	67	67					15																	66625180		2201	4299	6500	DIS3L	SO:0001583	missense	0			-	HGNC		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2788C>A	15.37:g.66625180C>A	ENSP00000321711:p.Gln930Lys	Somatic	0	33	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP							NULL	p.Q930K	ENST00000319212.4	37	c.2788	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869990	0.33069	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.21031	2.03;2.03	5.64	5.64	0.86602	.	0.235845	0.44097	D	0.000483	T	0.12050	0.0293	N	0.08118	0	0.52099	D	0.999949	B	0.28233	0.204	B	0.18561	0.022	T	0.19063	-1.0317	10	0.19147	T	0.46	-2.0896	18.7027	0.91626	0.0:1.0:0.0:0.0	.	930	Q8TF46	DI3L1_HUMAN	K	847;930	ENSP00000321583:Q847K;ENSP00000321711:Q930K	ENSP00000321583:Q847K	Q	+	1	0	DIS3L	64412234	0.999000	0.42202	0.289000	0.24876	0.978000	0.69477	2.876000	0.48498	2.654000	0.90174	0.655000	0.94253	CAA	-	NULL		0.358	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	protein_coding	OTTHUMT00000382792.2	C	NM_133375	-		66625180	1	no_errors	ENST00000319212	ensembl	human	known	74_37	missense	SNP	0.269	A	A	66625180	C	A	66625180	3	1	105	1	0	0	0	0	1	0	0	0	4538	827	29	3	2850	3	DIS3L	15	66625180	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	35297342	66625180	35906212	35	6873											
CHD2	1106	genome.wustl.edu	37	chr15	93518154	93518154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaatccgaaaacaggcactgGaccacttcaatgcagatggg	10	10	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr15:93518154G>T	ENST00000394196.4	+	20	3619	c.2551G>T	c.(2551-2553)Gac>Tac	p.D851Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D851Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	851	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACAGGCACTGGACCACTTCAA	0.438																																																	0								ENSG00000173575						161	137	145					15																	93518154		2197	4298	6495	CHD2	SO:0001583	missense	0			-	HGNC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2551G>T	15.37:g.93518154G>T	ENSP00000377747:p.Asp851Tyr	Somatic	0	43	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	C6G482|Q96IP5	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D851Y	ENST00000394196.4	37	c.2551	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804366	0.90623	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.77620	-1.11;-1.11	5.48	5.48	0.80851	Helicase, C-terminal (3);	0.000000	0.35677	U	0.003042	D	0.91690	0.7373	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.93689	0.7005	10	0.87932	D	0	-28.682	18.3364	0.90290	0.0:0.0:1.0:0.0	.	851;851;851	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	Y	851	ENSP00000377747:D851Y;ENSP00000451366:D851Y	ENSP00000377747:D851Y	D	+	1	0	CHD2	91319158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.825000	0.99386	2.591000	0.87537	0.478000	0.44815	GAC	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.438	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	G	NM_001271	-		93518154	1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	93518154	G	T	93518154	3	4	105	1	0	0	0	0	1	0	0	0	3327	1174	41	3	2629	3	CHD2	15	93518154	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09	26892974	93518154	9013238	36	6874											
TEKT5	146279	genome.wustl.edu	37	chr16	10729636	10729636	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttacttcaactgcgggatgTccctgcacagctccatgttg	9	13	1	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr16:10729636T>A	ENST00000283025.2	-	6	1297	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	409						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTGCGGGATGTCCCTGCACAG	0.627																																																	0								ENSG00000153060						95	99	98					16																	10729636		2197	4300	6497	TEKT5	SO:0001583	missense	0			-	HGNC		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1226A>T	16.37:g.10729636T>A	ENSP00000283025:p.Asp409Val	Somatic	0	17	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	A1L3Z3	Missense_Mutation	SNP							pfam_Tektin,prints_Tektin	p.D409V	ENST00000283025.2	37	c.1226	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897600	0.72639	.	.	ENSG00000153060	ENST00000283025	T	0.26957	1.7	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000010	T	0.57066	0.2028	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66803	-0.5831	10	0.87932	D	0	-30.3528	12.7601	0.57359	0.0:0.0:0.0:1.0	.	409	Q96M29	TEKT5_HUMAN	V	409	ENSP00000283025:D409V	ENSP00000283025:D409V	D	-	2	0	TEKT5	10637137	1.000000	0.71417	0.956000	0.39512	0.697000	0.40408	5.718000	0.68455	1.699000	0.51192	0.454000	0.30748	GAC	-	pfam_Tektin,prints_Tektin		0.627	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	protein_coding	OTTHUMT00000251963.1	T	NM_144674	-		10729636	-1	no_errors	ENST00000283025	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10729636	T	A	10729636	3	1	105	1	0	0	0	0	1	0	0	0	15763	1667	58	5	239	5	TEKT5	16	10729636	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09		10729636	79625117	37	6875											
ACSM5	54988	genome.wustl.edu	37	chr16	20442562	20442562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtggatgatgagggcaaCgtcctgcctcctggagaaga	14	8	0	4	rs78006992	byFrequency	TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr16:20442562C>T	ENST00000331849.4	+	10	1374	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	409					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.N409N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGGGCAACGTCCTGCCTC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000183549						157	135	142					16																	20442562		2203	4300	6503	ACSM5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1227C>T	16.37:g.20442562C>T		Somatic	0	29	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	80	9.09	Q96AV1|Q96CX8|Q9NWV3	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.N409	ENST00000331849.4	37	c.1227	CCDS10585.1	16																																																																																			-	pfam_AMP-dep_Synth/Lig		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	protein_coding	OTTHUMT00000254413.1	C	NM_017888	rs78006992		20442562	1	no_errors	ENST00000331849	ensembl	human	known	74_37	silent	SNP	0.043	T	T	20442562	C	T	20442562	2	4	105	1	0	0	0	0	0	0	0	1	187	535	19	1		1	ACSM5	16	20442562	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	9712926	20442562	69912191	38	6876											
TNRC6A	27327	genome.wustl.edu	37	chr16	24802323	24802330	+	Frame_Shift_Del	DEL	AACCTGCT	AACCTGCT	-													atcagggtggggcgatcccaAacctgctctgaggtggggag					rs3803716	byFrequency	TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	AACCTGCT	AACCTGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr16:24802323_24802330delAACCTGCT	ENST00000395799.3	+	6	2489_2496	c.2360_2367delAACCTGCT	c.(2359-2367)aaacctgctfs	p.KPA787fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.KPA787fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	787	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGCGATCCCAAACCTGCTCTGAGGTGGG	0.505																																																	0								ENSG00000090905																																			TNRC6A	SO:0001589	frameshift_variant	0				HGNC	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2360_2367delAACCTGCT	16.37:g.24802323_24802330delAACCTGCT	ENSP00000379144:p.Lys787fs	Somatic					0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1				C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL							pfam_Argonaute_hook_dom,superfamily_UBA-like	p.K787fs	ENST00000395799.3	37	c.2360_2367	CCDS10624.2	16																																																																																			-	NULL		0.505	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	protein_coding	OTTHUMT00000214081.1	AACCTGCT	NM_020847			24802330	1	no_errors	ENST00000395799	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.992:1.000:0.999:0.793:0.172:0.946:0.631	-	-	24802330	AACCTGCT	-	24802323	7	5	105	1	0	1	0	1	0	0	0	0	16347	14	1	0	2382	0	TNRC6A	16	24802323	Frame_Shift_Del	DEL	AACCTGCT	TCGA-DX-A8BS-01A-11D-A37C-09	4359761	24802323	65552430	39	6877											
DOC2A	8448	genome.wustl.edu	37	chr16	30017947	30017947	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgggttgagagtcttcttCttcacacacgtcttatgctt	8	10	6	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr16:30017947C>G	ENST00000350119.4	-	9	1120	c.930G>C	c.(928-930)aaG>aaC	p.K310N	DOC2A_ENST00000564979.1_Missense_Mutation_p.K310N|DOC2A_ENST00000564944.1_Missense_Mutation_p.K310N	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	310	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GAGTCTTCTTCTTCACACACG	0.607																																																	0								ENSG00000149927						207	175	186					16																	30017947		2197	4300	6497	DOC2A	SO:0001583	missense	0			-	HGNC	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.930G>C	16.37:g.30017947C>G	ENSP00000340017:p.Lys310Asn	Somatic	0	27	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	64	9.86	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.K310N	ENST00000350119.4	37	c.930	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031708	0.35797	.	.	ENSG00000149927	ENST00000350119	T	0.73469	-0.75	5.94	5.94	0.96194	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000024	D	0.88433	0.6435	M	0.89214	3.015	0.42803	D	0.993937	D	0.69078	0.997	D	0.70716	0.97	D	0.89870	0.4022	10	0.72032	D	0.01	.	17.8643	0.88791	0.0:1.0:0.0:0.0	.	310	Q14183	DOC2A_HUMAN	N	310	ENSP00000340017:K310N	ENSP00000340017:K310N	K	-	3	2	DOC2A	29925448	0.999000	0.42202	1.000000	0.80357	0.078000	0.17371	0.691000	0.25467	2.821000	0.97095	0.651000	0.88453	AAG	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,pfscan_C2_dom		0.607	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	protein_coding	OTTHUMT00000255148.2	C	NM_003586	-		30017947	-1	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	SNP	1.000	G	G	30017947	C	G	30017947	3	3	105	1	0	0	0	0	1	0	0	0	4685	912	32	4	284	4	DOC2A	16	30017947	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	5215624	30017947	60336806	40	6878											
MYOCD	93649	genome.wustl.edu	37	chr17	12661459	12661459	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttcaattccatccccaActttttctaagtcaagttca	3	11	4	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr17:12661459A>C	ENST00000343344.4	+	11	2116	c.2116A>C	c.(2116-2118)Act>Cct	p.T706P	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.T754P|AC005358.1_ENST00000609971.1_Missense_Mutation_p.T658P|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	706					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCATCCCCAACTTTTTCTAA	0.408																																																	0								ENSG00000141052						108	100	103					17																	12661459		2203	4300	6503	MYOCD	SO:0001583	missense	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2116A>C	17.37:g.12661459A>C	ENSP00000341835:p.Thr706Pro	Somatic	0	41	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	118	8.53	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.T754P	ENST00000343344.4	37	c.2260	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795653	0.31777	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.44083	0.93	5.39	1.87	0.25490	.	0.433687	0.23571	N	0.046745	T	0.35038	0.0918	N	0.20401	0.57	0.25521	N	0.987364	D;D;P	0.65815	0.995;0.985;0.627	P;P;B	0.58266	0.836;0.693;0.184	T	0.09271	-1.0682	10	0.33940	T	0.23	-8.4979	3.696	0.08364	0.6553:0.1383:0.0739:0.1325	.	658;754;706	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	P	754;706;658	ENSP00000341835:T706P	ENSP00000341835:T706P	T	+	1	0	MYOCD	12602184	1.000000	0.71417	0.988000	0.46212	0.882000	0.50991	2.216000	0.42871	0.416000	0.25844	-0.480000	0.04831	ACT	-	NULL		0.408	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	A	NM_153604	-		12661459	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	0.912	C	C	12661459	A	C	12661459	3	2	105	1	0	0	0	0	1	0	0	0	10089	43	2	5	2306	5	MYOCD	17	12661459	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09		12661459	68533751	41	6879											
CCL11	6356	genome.wustl.edu	37	chr17	32612893	32612893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccttcagcccccaggggctCgctgggccaggtaagccccc	13	18	1	0	rs202189623		TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr17:32612893C>T	ENST00000305869.3	+	1	207	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	22					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)		CCCAGGGGCTCGCTGGGCCAG	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		17390	0		0	False		,,,				2504	0																0								ENSG00000172156	C		0,4406		0,0,2203	100	101	100		66	-9	0	17		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCL11	NM_002986.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		22/98	32612893	1,13005	2203	4300	6503	CCL11	SO:0001819	synonymous_variant	0			-	HGNC	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.66C>T	17.37:g.32612893C>T		Somatic	0	15	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	P50877|Q92490|Q92491	Silent	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.L22	ENST00000305869.3	37	c.66	CCDS11279.1	17																																																																																			-	superfamily_Chemokine_IL8-like_dom		0.552	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL11	protein_coding	OTTHUMT00000256377.2	C	NM_002986	rs202189623		32612893	1	no_errors	ENST00000305869	ensembl	human	known	74_37	silent	SNP	0.007	T	T	32612893	C	T	32612893	2	4	105	1	0	0	0	0	0	0	0	1	2885	871	31	1		1	CCL11	17	32612893	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	19951434	32612893	48582317	42	6880											
COX11	1353	genome.wustl.edu	37	chr17	53045891	53045891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcctgtcccactccaCtctggcctaagaaacggctc	7	18	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr17:53045891C>A	ENST00000299335.3	-	1	255	c.117G>T	c.(115-117)gaG>gaT	p.E39D	STXBP4_ENST00000299341.4_5'Flank|STXBP4_ENST00000398391.2_5'Flank|STXBP4_ENST00000405898.1_5'Flank|COX11_ENST00000571584.1_Missense_Mutation_p.E39D|STXBP4_ENST00000376352.2_5'Flank|STXBP4_ENST00000434978.2_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	39					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TCCCACTCCACTCTGGCCTAA	0.642																																																	0								ENSG00000166260						68	57	61					17																	53045891		2197	4286	6483	COX11	SO:0001583	missense	0			-	HGNC	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"Mitochondrial respiratory chain complex assembly factors"	2261	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit 11", "cytochrome c oxidase assembly protein COX11"	603648	"COX11 (yeast) homolog, cytochrome c oxidase assembly protein", "COX11 cytochrome c oxidase assembly homolog (yeast)"			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.117G>T	17.37:g.53045891C>A	ENSP00000299335:p.Glu39Asp	Somatic	0	60	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	95	20.17	D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP							pfam_Cyt_c_oxidase_assmbl_CtaG,superfamily_CtaG/Cox11_dom	p.E39D	ENST00000299335.3	37	c.117	CCDS11583.1	17	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068671	0.20147	.	.	ENSG00000166260	ENST00000299335	T	0.43294	0.95	4.57	-6.52	0.01872	.	1.242440	0.05278	N	0.518847	T	0.20414	0.0491	N	0.22421	0.69	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.12837	0.008;0.008	T	0.16305	-1.0407	10	0.14656	T	0.56	-8.7738	2.6591	0.05021	0.0982:0.274:0.1944:0.4333	.	39;39	B4DI26;Q9Y6N1	.;COX11_HUMAN	D	39	ENSP00000299335:E39D	ENSP00000299335:E39D	E	-	3	2	COX11	50400890	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.459000	0.06728	-0.927000	0.03766	-0.251000	0.11542	GAG	-	NULL		0.642	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX11	protein_coding	OTTHUMT00000439182.1	C	NM_004375	-		53045891	-1	no_errors	ENST00000299335	ensembl	human	known	74_37	missense	SNP	0.000	A	A	53045891	C	A	53045891	3	1	105	1	0	0	0	0	1	0	0	0	3765	564	20	3	795	3	COX11	17	53045891	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	20432998	53045891	28149319	43	6881											
ACER1	125981	genome.wustl.edu	37	chr19	6307291	6307291	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggtgccgaagctcctTattgctggtcctagagaggg	13	9	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr19:6307291T>A	ENST00000301452.4	-	5	576	c.499A>T	c.(499-501)Aag>Tag	p.K167*		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	167					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CGAAGCTCCTTATTGCTGGTC	0.577																																																	0								ENSG00000167769						64	65	65					19																	6307291		2203	4300	6503	ACER1	SO:0001587	stop_gained	0			-	HGNC	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.499A>T	19.37:g.6307291T>A	ENSP00000301452:p.Lys167*	Somatic	0	32	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	18.75		Nonsense_Mutation	SNP							pfam_Ceramidase	p.K167*	ENST00000301452.4	37	c.499	CCDS12161.1	19	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157717	0.78114	.	.	ENSG00000167769	ENST00000301452	.	.	.	5.28	1.91	0.25777	.	0.791401	0.12183	N	0.491914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-24.3361	4.6215	0.12455	0.0:0.1705:0.3169:0.5126	.	.	.	.	X	167	.	ENSP00000301452:K167X	K	-	1	0	ACER1	6258291	0.000000	0.05858	0.004000	0.12327	0.368000	0.29767	-0.060000	0.11712	0.361000	0.24292	0.459000	0.35465	AAG	-	pfam_Ceramidase		0.577	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER1	protein_coding	OTTHUMT00000452982.1	T	NM_133492	-		6307291	-1	no_errors	ENST00000301452	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	6307291	T	A	6307291	4	1	105	1	0	0	0	0	0	1	0	0	138	1763	61	5	303	5	ACER1	19	6307291	Nonsense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09		6307291	52821692	44	6882											
ZNF99	7652	genome.wustl.edu	37	chr19	22942486	22942486	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaatgagaactaataacTggaagaaatgaaaataataa	7	2	0	3			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr19:22942486T>A	ENST00000596209.1	-	4	317		c.e4-2		ZNF99_ENST00000397104.3_Splice_Site	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)				AACTAATAACTGGAAGAAATG	0.299																																																	0								ENSG00000213973						33	29	30					19																	22942486		1823	4091	5914	ZNF99	SO:0001630	splice_region_variant	0			-	HGNC	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.227-2A>T	19.37:g.22942486T>A		Somatic	0	17	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	M0R335	Splice_Site	SNP							-	e4-2	ENST00000596209.1	37	c.290-2	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	.	3.641	-0.073430	0.07184	.	.	ENSG00000213973	ENST00000397104	.	.	.	0.937	0.937	0.19494	.	.	.	.	.	.	.	.	.	.	.	0.32245	N	0.572224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0135	0.09632	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF99	22734326	0.265000	0.24102	0.011000	0.14972	0.011000	0.07611	0.852000	0.27764	0.334000	0.23590	0.325000	0.21440	.	-	-		0.299	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	protein_coding	OTTHUMT00000464591.1	T	XM_065124	-	Intron	22942486	-1	no_errors	ENST00000397104	ensembl	human	known	74_37	splice_site	SNP	0.163	A	A	22942486	T	A	22942486	5	1	105	1	0	0	0	0	0	0	1	0	18211	1594	55	5	2840	5	ZNF99	19	22942486	Splice_Site	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09	16635195	22942486	36186497	45	6883											
MEGF8	1954	genome.wustl.edu	37	chr19	42848647	42848647	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggtgactgccaggccTgcctggccttcagcagcccc	12	17	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr19:42848647T>A	ENST00000251268.6	+	11	1843	c.1843T>A	c.(1843-1845)Tgc>Agc	p.C615S	MEGF8_ENST00000334370.4_Missense_Mutation_p.C615S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	615					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)				CTGCCAGGCCTGCCTGGCCTT	0.682																																																	0								ENSG00000105429						22	26	25					19																	42848647		2201	4297	6498	MEGF8	SO:0001583	missense	0			-	HGNC	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.1843T>A	19.37:g.42848647T>A	ENSP00000251268:p.Cys615Ser	Somatic	0	14	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	10	47.37	A8KAY0|O75097	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.C615S	ENST00000251268.6	37	c.1843		19	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704376	0.88924	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.37915	1.39;1.17	4.85	4.85	0.62838	.	0.116735	0.50627	D	0.000102	T	0.53562	0.1804	L	0.55990	1.75	0.80722	D	1	P;D	0.76494	0.473;0.999	B;D	0.78314	0.111;0.991	T	0.56774	-0.7923	10	0.87932	D	0	-17.1228	12.3759	0.55279	0.0:0.0:0.0:1.0	.	615;615	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	615	ENSP00000334219:C615S;ENSP00000251268:C615S	ENSP00000251268:C615S	C	+	1	0	MEGF8	47540487	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.516000	0.67055	1.825000	0.53177	0.255000	0.18592	TGC	-	NULL		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	protein_coding	OTTHUMT00000463854.1	T	NM_001410	-		42848647	1	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42848647	T	A	42848647	3	1	105	1	0	0	0	0	1	0	0	0	9465	1580	55	5	1885	5	MEGF8	19	42848647	Missense_Mutation	SNP	T	TCGA-DX-A8BS-01A-11D-A37C-09	19906161	42848647	16280336	46	6884											
SIGLEC6	946	genome.wustl.edu	37	chr19	52031485	52031485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactgctcccaggacaccAccagccctgccttctggttt	8	17	1	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr19:52031485A>G	ENST00000425629.3	-	6	1189	c.1035T>C	c.(1033-1035)ggT>ggC	p.G345G	SIGLEC6_ENST00000346477.3_Silent_p.G329G|SIGLEC6_ENST00000436458.1_Silent_p.G293G|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000359982.4_Silent_p.G356G	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	345					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCAGGACACCACCAGCCCTGC	0.512																																																	0								ENSG00000105492						82	89	87					19																	52031485		1969	4141	6110	SIGLEC6	SO:0001819	synonymous_variant	0			-	HGNC	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1035T>C	19.37:g.52031485A>G		Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	35.29	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP							pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G345	ENST00000425629.3	37	c.1035	CCDS12834.3	19																																																																																			-	NULL		0.512	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	protein_coding	OTTHUMT00000257670.3	A	NM_001245	-		52031485	-1	no_errors	ENST00000425629	ensembl	human	known	74_37	silent	SNP	0.000	G	G	52031485	A	G	52031485	2	3	105	1	0	0	0	0	0	0	0	1	14320	146	6	5		5	SIGLEC6	19	52031485	Silent	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09	9182838	52031485	7097498	47	6885											
NLRP9	338321	genome.wustl.edu	37	chr19	56243494	56243494	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttaccaatataaatgaaaActtcttcaaagaaattcatc	3	7	3	2			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr19:56243494A>T	ENST00000332836.2	-	2	1730	c.1703T>A	c.(1702-1704)gTt>gAt	p.V568D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	568						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATAAATGAAAACTTCTTCAAA	0.353																																																	0								ENSG00000185792						64	64	64					19																	56243494		2203	4300	6503	NLRP9	SO:0001583	missense	0			-	HGNC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1703T>A	19.37:g.56243494A>T	ENSP00000331857:p.Val568Asp	Somatic	0	38	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51	B2RN12|Q86W27	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V568D	ENST00000332836.2	37	c.1703	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867979	0.32977	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.55052	0.54	2.23	2.23	0.28157	.	.	.	.	.	T	0.64972	0.2647	M	0.78049	2.395	0.09310	N	0.999998	D	0.60575	0.988	P	0.59703	0.862	T	0.52917	-0.8511	9	0.87932	D	0	.	6.4848	0.22083	1.0:0.0:0.0:0.0	.	568	Q7RTR0	NALP9_HUMAN	D	568	ENSP00000331857:V568D	ENSP00000331857:V568D	V	-	2	0	NLRP9	60935306	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.524000	0.22940	1.302000	0.44855	0.524000	0.50904	GTT	-	NULL		0.353	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	protein_coding	OTTHUMT00000453653.1	A	NM_176820	-		56243494	-1	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	SNP	0.001	T	T	56243494	A	T	56243494	3	4	105	1	0	0	0	0	1	0	0	0	10486	43	2	5	1304	5	NLRP9	19	56243494	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09	4212009	56243494	2885489	48	6886											
PEG3	5178	genome.wustl.edu	37	chr19	57327276	57327276	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcatttccattgtgacttCttggaggtttggaagccact	9	8	2	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr19:57327276C>A	ENST00000326441.9	-	10	2897	c.2534G>T	c.(2533-2535)aGa>aTa	p.R845I	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R845I|PEG3_ENST00000598410.1_Missense_Mutation_p.R721I|PEG3_ENST00000593695.1_Missense_Mutation_p.R719I|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	845					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTGTGACTTCTTGGAGGTTT	0.438																																																	0								ENSG00000198300						94	91	92					19																	57327276		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2534G>T	19.37:g.57327276C>A	ENSP00000326581:p.Arg845Ile	Somatic	0	15	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R845I	ENST00000326441.9	37	c.2534	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782107	0.31502	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	3.78	-1.07	0.09968	.	0.420853	0.20429	N	0.092518	T	0.02533	0.0077	L	0.29908	0.895	.	.	.	P;P;P	0.40050	0.7;0.668;0.668	B;B;B	0.38985	0.287;0.122;0.132	T	0.33369	-0.9871	9	0.66056	D	0.02	-6.2196	9.1764	0.37114	0.0:0.5755:0.0:0.4245	.	721;845;780	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	845	ENSP00000326581:R845I;ENSP00000403051:R845I	ENSP00000326581:R845I	R	-	2	0	ZIM2	62019088	0.001000	0.12720	0.000000	0.03702	0.128000	0.20619	0.564000	0.23563	-0.230000	0.09840	-0.423000	0.05987	AGA	-	NULL		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57327276	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	0.014	A	A	57327276	C	A	57327276	3	1	105	1	0	0	0	0	1	0	0	0	11722	913	32	3	2236	3	PEG3	19	57327276	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	1083782	57327276	1801707	49	6887											
CBFA2T2	9139	genome.wustl.edu	37	chr20	32216176	32216176	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctaaatggaggctatcaaGatgagttggtagatcatcgt	12	5	3	3			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr20:32216176G>A	ENST00000346541.3	+	8	1531	c.994G>A	c.(994-996)Gat>Aat	p.D332N	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.D332N|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.D303N|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.D323N|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.D342N|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.D303N	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	332					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGGCTATCAAGATGAGTTGGT	0.353																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0								ENSG00000078699						194	186	189					20																	32216176		2203	4300	6503	CBFA2T2	SO:0001583	missense	0			-	HGNC	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.994G>A	20.37:g.32216176G>A	ENSP00000262653:p.Asp332Asn	Somatic	0	33	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	63	27.59	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP							pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.D332N	ENST00000346541.3	37	c.994	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.338911	0.95783	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.31	5.31	0.75309	NHR2-like (1);	0.098719	0.64402	D	0.000001	T	0.33702	0.0872	N	0.08118	0	0.80722	D	1	P;P	0.47484	0.896;0.873	P;B	0.46510	0.519;0.298	T	0.32134	-0.9918	10	0.49607	T	0.09	-11.361	19.3352	0.94314	0.0:0.0:1.0:0.0	.	332;323	O43439;F8W6D7	MTG8R_HUMAN;.	N	106;332;323;332;303;342	ENSP00000364428:D332N;ENSP00000345810:D323N;ENSP00000262653:D332N;ENSP00000380902:D303N;ENSP00000352622:D342N	ENSP00000345810:D323N	D	+	1	0	CBFA2T2	31679837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.651000	0.90000	0.655000	0.94253	GAT	-	pfam_NHR2		0.353	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	protein_coding	OTTHUMT00000078708.2	G	NM_001032999	-		32216176	1	no_errors	ENST00000346541	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32216176	G	A	32216176	3	1	105	1	0	0	0	0	1	0	0	0	2699	942	33	2	1058	2	CBFA2T2	20	32216176	Missense_Mutation	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09		32216176	30809344	50	6888											
CBFA2T2	9139	genome.wustl.edu	37	chr20	32217653	32217653	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacaatgaaaacacagagctGaggaaaacggggaccgagtt	12	7	0	3			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr20:32217653G>C	ENST00000346541.3	+	9	1725	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	CBFA2T2_ENST00000375279.2_Silent_p.L396L|CBFA2T2_ENST00000492345.1_Silent_p.L367L|CBFA2T2_ENST00000342704.6_Silent_p.L387L|CBFA2T2_ENST00000359606.3_Silent_p.L406L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Silent_p.L367L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	396					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ACACAGAGCTGAGGAAAACGG	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0								ENSG00000078699						68	65	66					20																	32217653		2203	4300	6503	CBFA2T2	SO:0001819	synonymous_variant	0			-	HGNC	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1188G>C	20.37:g.32217653G>C		Somatic	0	24	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	49	27.94	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP							pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.L396	ENST00000346541.3	37	c.1188	CCDS13221.1	20																																																																																			-	pfam_NHR2		0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	protein_coding	OTTHUMT00000078708.2	G	NM_001032999	-		32217653	1	no_errors	ENST00000346541	ensembl	human	known	74_37	silent	SNP	0.991	C	C	32217653	G	C	32217653	2	2	105	1	0	0	0	0	0	0	0	1	2699	1277	45	4		4	CBFA2T2	20	32217653	Silent	SNP	G	TCGA-DX-A8BS-01A-11D-A37C-09	1477	32217653	30807867	51	6889											
NCAM2	4685	genome.wustl.edu	37	chr21	22910184	22910184	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaattgcctttaaaggAagaagatgggaaagaagctc	11	5	0	4			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr21:22910184A>T	ENST00000400546.1	+	18	2669	c.2420A>T	c.(2419-2421)gAa>gTa	p.E807V	NCAM2_ENST00000284894.7_Missense_Mutation_p.E665V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	807					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCTTTAAAGGAAGAAGATGGG	0.318																																																	0								ENSG00000154654						53	54	53					21																	22910184		1802	4059	5861	NCAM2	SO:0001583	missense	0			-	HGNC		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2420A>T	21.37:g.22910184A>T	ENSP00000383392:p.Glu807Val	Somatic	0	36	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.E807V	ENST00000400546.1	37	c.2420	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969143	0.74131	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.46063	0.88;0.88	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.64381	-0.6421	10	0.62326	D	0.03	-32.6513	15.0645	0.71983	1.0:0.0:0.0:0.0	.	665;807	B7Z5K2;O15394	.;NCAM2_HUMAN	V	807;665	ENSP00000383392:E807V;ENSP00000284894:E665V	ENSP00000284894:E665V	E	+	2	0	NCAM2	21832055	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.148000	0.77389	2.238000	0.73509	0.477000	0.44152	GAA	-	NULL		0.318	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	protein_coding	OTTHUMT00000170915.1	A	NM_004540	-		22910184	1	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22910184	A	T	22910184	3	4	105	1	0	0	0	0	1	0	0	0	10205	246	9	5	2490	5	NCAM2	21	22910184	Missense_Mutation	SNP	A	TCGA-DX-A8BS-01A-11D-A37C-09		22910184	25219711	52	6890											
COL18A1	80781	genome.wustl.edu	37	chr21	46888376	46888376	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggcccaggggtgctgttCgccatcacggactcggcgca	16	13	1	0	rs564820524		TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr21:46888376C>T	ENST00000359759.4	+	2	1593	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	COL18A1_ENST00000400337.2_Silent_p.F109F|COL18A1_ENST00000355480.5_Silent_p.F289F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	524	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGTGCTGTTCGCCATCACGG	0.637																																																	0								ENSG00000182871						70	83	79					21																	46888376		2131	4246	6377	COL18A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1572C>T	21.37:g.46888376C>T		Somatic	0	40	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.F524	ENST00000359759.4	37	c.1572		21																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.637	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	C		-		46888376	1	no_errors	ENST00000359759	ensembl	human	known	74_37	silent	SNP	0.908	T	T	46888376	C	T	46888376	2	4	105	1	0	0	0	0	0	0	0	1	3677	883	31	1		1	COL18A1	21	46888376	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	23978192	46888376	1241519	53	6891											
TRIOBP	11078	genome.wustl.edu	37	chr22	38121164	38121164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacaaccctggaacctcCtcatctcaatgctgcaccca	6	17	2	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chr22:38121164C>T	ENST00000406386.3	+	7	2856	c.2601C>T	c.(2599-2601)tcC>tcT	p.S867S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	867					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGGAACCTCCTCATCTCAAT	0.498																																																	0								ENSG00000100106						136	146	143					22																	38121164		2034	4169	6203	TRIOBP	SO:0001819	synonymous_variant	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2601C>T	22.37:g.38121164C>T		Somatic	0	22	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	47.54	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S867	ENST00000406386.3	37	c.2601	CCDS43015.1	22																																																																																			-	NULL		0.498	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	C		-		38121164	1	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	SNP	0.003	T	T	38121164	C	T	38121164	2	4	105	1	0	0	0	0	0	0	0	1	16560	668	24	2		2	TRIOBP	22	38121164	Silent	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09		38121164	13183402	54	6892											
RBM10	8241	genome.wustl.edu	37	chrX	47039357	47039357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaccctacgcggtgctgtCctcctccaacgtgcgcgtca	11	17	1	0			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chrX:47039357C>T	ENST00000377604.3	+	10	1722	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RBM10_ENST00000329236.7_Missense_Mutation_p.S250F|RBM10_ENST00000345781.6_Missense_Mutation_p.S250F|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	327	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCGGTGCTGTCCTCCTCCAAC	0.597																																					Melanoma(171;120 2705 19495 39241)												0								ENSG00000182872						51	35	40					X																	47039357		2203	4300	6503	RBM10	SO:0001583	missense	0			-	HGNC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.980C>T	X.37:g.47039357C>T	ENSP00000366829:p.Ser327Phe	Somatic	0	55	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	82	9.89	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP							pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S327F	ENST00000377604.3	37	c.980	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901259	0.33535	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.36157	1.27;1.27;1.27	3.85	3.85	0.44370	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.071764	0.56097	D	0.000026	T	0.49218	0.1544	M	0.64404	1.975	0.38105	D	0.937373	D;P;P;P;P	0.54964	0.969;0.6;0.813;0.873;0.842	P;P;P;P;P	0.59761	0.863;0.781;0.715;0.679;0.588	T	0.56226	-0.8014	10	0.66056	D	0.02	-13.1975	9.3138	0.37921	0.0:0.7829:0.2171:0.0	.	250;392;327;250;327	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	F	327;250;250	ENSP00000366829:S327F;ENSP00000328848:S250F;ENSP00000329659:S250F	ENSP00000328848:S250F	S	+	2	0	RBM10	46924301	0.995000	0.38212	0.998000	0.56505	0.070000	0.16714	5.963000	0.70372	1.860000	0.53959	0.431000	0.28591	TCC	-	smart_RRM_dom,pfscan_RRM_dom		0.597	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	protein_coding	OTTHUMT00000056381.1	C	NM_005676	-		47039357	1	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	SNP	0.997	T	T	47039357	C	T	47039357	3	4	105	1	0	0	0	0	1	0	0	0	13119	855	30	2	1014	2	RBM10	23	47039357	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09		47039357	108231203	55	6893											
UBQLN2	29978	genome.wustl.edu	37	chrX	56592114	56592114	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaagcaaacttgcaggCcctaatagcaacaggaggcg	12	11	0	1			TCGA-DX-A8BS-01A-11D-A37C-09	TCGA-DX-A8BS-11A-13D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3757dd0-b728-4ef8-b4db-cda45a664070	843ebeaf-a333-4f5b-9c34-1629672f36e5	g.chrX:56592114C>G	ENST00000338222.5	+	1	2089	c.1808C>G	c.(1807-1809)gCc>gGc	p.A603G		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	603	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AACTTGCAGGCCCTAATAGCA	0.478																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0								ENSG00000188021						55	43	47					X																	56592114		2203	4300	6503	UBQLN2	SO:0001583	missense	0			-	HGNC	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1808C>G	X.37:g.56592114C>G	ENSP00000345195:p.Ala603Gly	Somatic	0	30	0		0.725980003394737				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP							pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.A603G	ENST00000338222.5	37	c.1808	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570484	0.45798	.	.	ENSG00000188021	ENST00000338222	T	0.64803	-0.12	4.55	4.55	0.56014	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.64402	D	0.000004	D	0.85120	0.5624	H	0.97077	3.935	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.80764	0.994;0.992	D	0.89918	0.4057	10	0.87932	D	0	-8.5652	13.8736	0.63638	0.0:1.0:0.0:0.0	.	491;603	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	G	603	ENSP00000345195:A603G	ENSP00000345195:A603G	A	+	2	0	UBQLN2	56608839	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.576000	0.82467	2.235000	0.73313	0.594000	0.82650	GCC	-	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.478	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	protein_coding	OTTHUMT00000056891.1	C	NM_013444	-		56592114	1	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56592114	C	G	56592114	3	3	105	1	0	0	0	0	1	0	0	0	16904	739	26	4	1810	4	UBQLN2	23	56592114	Missense_Mutation	SNP	C	TCGA-DX-A8BS-01A-11D-A37C-09	9552757	56592114	98678446	56	6894											
NPHP4	261734	genome.wustl.edu	37	chr1	5924040	5924040	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtaggggttggtgtaggtGatcctcttgttgacaccctt	15	7	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:5924040G>T	ENST00000378156.4	-	29	4315	c.4050C>A	c.(4048-4050)atC>atA	p.I1350I	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1350					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGTAGGTGATCCTCTTGT	0.627																																																	0								ENSG00000131697						94	111	105					1																	5924040		2071	4182	6253	NPHP4	SO:0001819	synonymous_variant	0			-	HGNC	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4050C>A	1.37:g.5924040G>T		Somatic	0	80	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	57	27.85	Q8IWC0	Silent	SNP							NULL	p.I1350	ENST00000378156.4	37	c.4050	CCDS44052.1	1																																																																																			-	NULL		0.627	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	protein_coding	OTTHUMT00000001715.2	G		-		5924040	-1	no_errors	ENST00000378156	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5924040	G	T	5924040	2	4	106	1	0	0	0	0	0	0	0	1	10583	1280	45	3		3	NPHP4	1	5924040	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		5924040	243326581	1	6895											
TNFRSF1B	7133	genome.wustl.edu	37	chr1	12251943	12251943	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccggctgtgcgcgccgctGcgcaagtgccgcccgggctt	16	16	0	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:12251943G>T	ENST00000376259.3	+	4	509	c.420G>T	c.(418-420)ctG>ctT	p.L140L	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.L140L|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	140					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCGCGCCGCTGCGCAAGTGCC	0.687																																																	0								ENSG00000028137						20	22	21					1																	12251943		2200	4298	6498	TNFRSF1B	SO:0001819	synonymous_variant	0			-	HGNC	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.420G>T	1.37:g.12251943G>T		Somatic	0	29	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.L140	ENST00000376259.3	37	c.420	CCDS145.1	1																																																																																			-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.687	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	protein_coding	OTTHUMT00000005133.1	G	NM_001066	-		12251943	1	no_errors	ENST00000376259	ensembl	human	known	74_37	silent	SNP	0.008	T	T	12251943	G	T	12251943	2	4	106	1	0	0	0	0	0	0	0	1	16301	1306	46	3		3	TNFRSF1B	1	12251943	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	6327903	12251943	236998678	2	6896											
HTR1D	3352	genome.wustl.edu	37	chr1	23520075	23520075	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccggccatataggatgatgAgcaacaccgagggaatgtag	13	8	0	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:23520075A>T	ENST00000374619.1	-	1	1147	c.638T>A	c.(637-639)cTc>cAc	p.L213H	HTR1D_ENST00000314113.3_Missense_Mutation_p.L213H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	213					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TAGGATGATGAGCAACACCGA	0.572																																																	0								ENSG00000179546						63	67	66					1																	23520075		2203	4300	6503	HTR1D	SO:0001583	missense	0			-	HGNC	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.638T>A	1.37:g.23520075A>T	ENSP00000363748:p.Leu213His	Somatic	0	26	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.L213H	ENST00000374619.1	37	c.638	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743903	0.69418	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.40476	1.03;1.03	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76809	-0.2822	10	0.87932	D	0	.	14.9212	0.70838	1.0:0.0:0.0:0.0	.	213	P28221	5HT1D_HUMAN	H	213	ENSP00000313661:L213H;ENSP00000363748:L213H	ENSP00000313661:L213H	L	-	2	0	HTR1D	23392662	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	9.339000	0.96797	2.133000	0.65898	0.533000	0.62120	CTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.572	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	protein_coding	OTTHUMT00000008924.1	A	NM_000864	-		23520075	-1	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23520075	A	T	23520075	3	4	106	1	0	0	0	0	1	0	0	0	7440	304	11	5	499	5	HTR1D	1	23520075	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	11268132	23520075	225730546	3	6897											
WDTC1	23038	genome.wustl.edu	37	chr1	27620587	27620587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccccttccggacggtgCagcccagtattacgtagcag	11	13	0	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:27620587C>T	ENST00000319394.3	+	8	1272	c.737C>T	c.(736-738)gCa>gTa	p.A246V	WDTC1_ENST00000361771.3_Missense_Mutation_p.A246V	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	246					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCGGACGGTGCAGCCCAGTAT	0.567																																																	0								ENSG00000142784						71	66	68					1																	27620587		2203	4300	6503	WDTC1	SO:0001583	missense	0			-	HGNC	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.737C>T	1.37:g.27620587C>T	ENSP00000317971:p.Ala246Val	Somatic	0	53	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A246V	ENST00000319394.3	37	c.737		1	.	.	.	.	.	.	.	.	.	.	C	34	5.341147	0.95783	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61392	0.11;0.11	5.35	5.35	0.76521	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.28556	0.865	0.80722	D	1	B;P	0.42518	0.435;0.782	B;B	0.37047	0.145;0.24	T	0.34004	-0.9846	10	0.18710	T	0.47	.	18.2298	0.89931	0.0:1.0:0.0:0.0	.	246;246	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	V	246	ENSP00000317971:A246V;ENSP00000355317:A246V	ENSP00000317971:A246V	A	+	2	0	WDTC1	27493174	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.313000	0.78978	2.785000	0.95823	0.655000	0.94253	GCA	-	superfamily_WD40_repeat_dom		0.567	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	protein_coding		C	NM_015023	-		27620587	1	no_errors	ENST00000319394	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27620587	C	T	27620587	3	4	106	1	0	0	0	0	1	0	0	0	17349	710	25	2	763	2	WDTC1	1	27620587	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	4100512	27620587	221630034	4	6898											
HIVEP3	59269	genome.wustl.edu	37	chr1	41976281	41976281	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgccaggcagcccacAgagctgctgcggtccagcgg	14	16	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:41976281A>G	ENST00000372583.1	-	9	7947	c.7062T>C	c.(7060-7062)tcT>tcC	p.S2354S	HIVEP3_ENST00000372584.1_Silent_p.S2353S|HIVEP3_ENST00000247584.5_Silent_p.S2354S|HIVEP3_ENST00000429157.2_Silent_p.S2353S|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2354					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCCCACAGAGCTGCTGC	0.721																																																	0								ENSG00000127124						9	9	9					1																	41976281		2119	4157	6276	HIVEP3	SO:0001819	synonymous_variant	0			-	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.7062T>C	1.37:g.41976281A>G		Somatic	0	48	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2354	ENST00000372583.1	37	c.7062	CCDS463.1	1																																																																																			-	NULL		0.721	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	A	NM_024503	-		41976281	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	silent	SNP	0.168	G	G	41976281	A	G	41976281	2	3	106	1	0	0	0	0	0	0	0	1	7190	175	7	5		5	HIVEP3	1	41976281	Silent	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	14355694	41976281	207274340	5	6899											
IPO13	9670	genome.wustl.edu	37	chr1	44415575	44415575	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaccgcaaaggcctggtgCggaccagcctggcggtggaa	16	11	0	0	rs553921358		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:44415575C>A	ENST00000372343.3	+	2	1233	c.571C>A	c.(571-573)Cgg>Agg	p.R191R		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	191					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGGCCTGGTGCGGACCAGCCT	0.642																																																	0								ENSG00000117408						18	19	18					1																	44415575		2203	4300	6503	IPO13	SO:0001819	synonymous_variant	0			-	HGNC	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.571C>A	1.37:g.44415575C>A		Somatic	0	49	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP							pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R191	ENST00000372343.3	37	c.571	CCDS503.1	1																																																																																			-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.642	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	protein_coding	OTTHUMT00000022846.1	C	NM_014652	-		44415575	1	no_errors	ENST00000372343	ensembl	human	known	74_37	silent	SNP	1.000	A	A	44415575	C	A	44415575	2	1	106	1	0	0	0	0	0	0	0	1	7796	759	27	3		3	IPO13	1	44415575	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	2439294	44415575	204835046	6	6900											
LPAR3	23566	genome.wustl.edu	37	chr1	85331339	85331339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcccccataaaaatggcGatggcccagacaagcaaaat	8	13	0	1	rs565409119		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:85331339G>A	ENST00000440886.1	-	1	503	c.465C>T	c.(463-465)atC>atT	p.I155I	LPAR3_ENST00000370611.3_Silent_p.I155I|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	155					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TAAAAATGGCGATGGCCCAGA	0.542																																																	0								ENSG00000171517						145	151	149					1																	85331339		2203	4300	6503	LPAR3	SO:0001819	synonymous_variant	0			-	HGNC	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.465C>T	1.37:g.85331339G>A		Somatic	0	35	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	A0AVA3	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt	p.I155	ENST00000440886.1	37	c.465	CCDS700.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR3	protein_coding	OTTHUMT00000027467.1	G	NM_012152	-		85331339	-1	no_errors	ENST00000370611	ensembl	human	known	74_37	silent	SNP	0.583	A	A	85331339	G	A	85331339	2	1	106	1	0	0	0	0	0	0	0	1	8908	1048	37	1		1	LPAR3	1	85331339	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	40915764	85331339	163919282	7	6901											
HFM1	164045	genome.wustl.edu	37	chr1	91784768	91784769	+	Splice_Site	INS	-	-	A													ctacaaaatctgacaaccctINSaaaaaaaaagtttccagtat					rs201894017		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:91784768_91784769insA	ENST00000370425.3	-	25	2779		c.e25-2		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000462405.1_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTGACAACCCTAAAAAAAAAGT	0.297																																																	0								ENSG00000162669			21,4241		1,19,2111						5.1	1			37	16,8220		0,16,4102	no	splice-3	HFM1	NM_001017975.3		1,35,6213	A1A1,A1R,RR		0.1943,0.4927,0.296				37,12461				HFM1	SO:0001630	splice_region_variant	0				HGNC	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2681-2->T	1.37:g.91784777_91784777dupA		Somatic	0	38	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	B1B0B6|Q8N9Q0	Splice_Site	INS							-	e24-2	ENST00000370425.3	37	c.2681-3_2681-2	CCDS30769.2	1																																																																																			-	-		0.297	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	protein_coding	OTTHUMT00000316716.2	-	NM_001017975		Intron	91784769	-1	no_errors	ENST00000370425	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.968	A	A	91784769	-	A	91784768	8	5	106	1	0	1	1	0	0	0	1	0	7085	1536	53	0	1688	0	HFM1	1	91784768	Splice_Site	INS	-	TCGA-DX-A8BT-01A-11D-A37C-09	6453429	91784768	157465853	8	6902											
CD1C	911	genome.wustl.edu	37	chr1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacctagagttgttatttCgtttctacctctttggatta	7	8	2	2	rs145638725		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000158481						111	108	109					1																	158261127		2203	4300	6503	CD1C	SO:0001583	missense	0			-	HGNC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.265C>T	1.37:g.158261127C>T	ENSP00000357152:p.Arg89Cys	Somatic	0	62	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	14	64.10	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP							pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R89C	ENST00000368170.3	37	c.265	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.579|8.579	0.881755|0.881755	0.17467|0.17467	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.08102|.	3.13|.	3.52|3.52	-3.21|-3.21	0.05140|0.05140	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.543957|.	0.14309|.	N|.	0.327809|.	T|T	0.32823|0.32823	0.0842|0.0842	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	B|.	0.33841|.	0.428|.	B|.	0.18561|.	0.022|.	T|T	0.47623|0.47623	-0.9103|-0.9103	10|5	0.87932|.	D|.	0|.	.|.	9.3198|9.3198	0.37957|0.37957	0.0:0.2985:0.0:0.7015|0.0:0.2985:0.0:0.7015	.|.	89|.	P29017|.	CD1C_HUMAN|.	C|L	89|23	ENSP00000357152:R89C|.	ENSP00000357151:R89C|.	R|S	+|+	1|2	0|0	CD1C|CD1C	156527751|156527751	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.106000|-0.106000	0.10890|0.10890	-0.744000|-0.744000	0.04778|0.04778	-0.781000|-0.781000	0.03364|0.03364	CGT|TCG	-	superfamily_MHC_I/II-like_Ag-recog		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	protein_coding	OTTHUMT00000046351.2	C	NM_001765	rs145638725		158261127	1	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	SNP	0.000	T	T	158261127	C	T	158261127	3	4	106	1	0	0	0	0	1	0	0	0	2978	884	31	1	271	1	CD1C	1	158261127	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	66476359	158261127	90989494	9	6903											
SNRPE	6635	genome.wustl.edu	37	chr1	203830841	203830841	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaggttatggtgcagcccatCgtatcctacgcaggatgtca	11	10	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:203830841C>G	ENST00000414487.2	+	1	99	c.54C>G	c.(52-54)atC>atG	p.I18M	SNRPE_ENST00000367208.1_5'Flank|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	18					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|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)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGCCCATCGTATCCTACG	0.582																																					Ovarian(83;324 1318 17952 32395 39614)												0								ENSG00000182004						124	99	108					1																	203830841		2203	4300	6503	SNRPE	SO:0001630	splice_region_variant	0			-	HGNC	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.54+1C>G	1.37:g.203830841C>G		Somatic	0	46	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	9	76.92	B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP							pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.I18M	ENST00000414487.2	37	c.54	CCDS30979.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627336	0.87560	.	.	ENSG00000182004	ENST00000414487	.	.	.	5.6	4.69	0.59074	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	.	.	.	0.80722	D	1	D	0.53462	0.96	P	0.60949	0.881	T	0.80353	-0.1418	8	0.87932	D	0	.	14.117	0.65161	0.0:0.9269:0.0:0.0731	.	18	P62304	RUXE_HUMAN	M	18	.	ENSP00000400591:I18M	I	+	3	3	SNRPE	202097464	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.396000	0.44468	1.358000	0.45922	0.609000	0.83330	ATC	-	superfamily_LSM_dom		0.582	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPE	protein_coding	OTTHUMT00000087703.1	C	NM_003094	-	Missense_Mutation	203830841	1	no_errors	ENST00000414487	ensembl	human	known	74_37	missense	SNP	1.000	G	G	203830841	C	G	203830841	5	3	106	1	0	0	0	0	0	0	1	0	14875	898	31	4	56	4	SNRPE	1	203830841	Splice_Site	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	45569714	203830841	45419780	10	6904											
C1orf107	27042	genome.wustl.edu	37	chr1	210012423	210012423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaacttgaagaggcctgAggattatgaagccgtatttg	11	8	0	4			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:210012423A>G	ENST00000491415.2	+	7	1289	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	411					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGAGGCCTGAGGATTATGAA	0.428																																																	0								ENSG00000117597						122	119	120					1																	210012423		2203	4300	6503	DIEXF	SO:0001583	missense	0			-	HGNC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1232A>G	1.37:g.210012423A>G	ENSP00000419005:p.Glu411Gly	Somatic	0	32	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP							pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.E411G	ENST00000491415.2	37	c.1232	CCDS1493.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.8|29.8	5.036278|5.036278	0.93630|0.93630	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.40756|.	1.02|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.044068|.	0.85682|.	D|.	0.000000|.	T|T	0.75583|0.75583	0.3869|0.3869	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71870|.	0.975|.	T|T	0.75575|0.75575	-0.3270|-0.3270	9|5	.|.	.|.	.|.	-31.7869|-31.7869	16.4237|16.4237	0.83790|0.83790	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	411|.	Q68CQ4|.	DIEXF_HUMAN|.	G|G	411|92	ENSP00000419005:E411G|.	.|.	E|R	+|+	2|1	0|2	DIEXF|DIEXF	208079046|208079046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.125000|9.125000	0.94402|0.94402	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAG|AGG	-	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase		0.428	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	A	NM_014388	-		210012423	1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	SNP	1.000	G	G	210012423	A	G	210012423	3	3	106	1	0	0	0	0	1	0	0	0	1983	304	11	5	1258	5	C1orf107	1	210012423	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	6181582	210012423	39238198	11	6905											
INTS7	25896	genome.wustl.edu	37	chr1	212180602	212180602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaattacctgcttaggtGtatcaaccaaagatgacgct	8	8	1	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:212180602G>A	ENST00000366994.3	-	6	850	c.746C>T	c.(745-747)aCa>aTa	p.T249I	INTS7_ENST00000366992.3_Missense_Mutation_p.T249I|INTS7_ENST00000440600.2_Missense_Mutation_p.T200I|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.T249I	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	249					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGCTTAGGTGTATCAACCAA	0.378																																																	0								ENSG00000143493						82	71	75					1																	212180602		2203	4300	6503	INTS7	SO:0001583	missense	0			-	HGNC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.746C>T	1.37:g.212180602G>A	ENSP00000355961:p.Thr249Ile	Somatic	0	44	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.T200I	ENST00000366994.3	37	c.599	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560289	0.13498	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.08	6.08	0.98989	Armadillo-like helical (1);Armadillo-type fold (1);	0.043517	0.85682	D	0.000000	T	0.03959	0.0111	N	0.00217	-1.83	0.45777	D	0.99866	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.002;0.002	T	0.42361	-0.9456	10	0.06236	T	0.91	-20.4729	8.007	0.30332	0.1834:0.0:0.8166:0.0	.	200;249;249;249	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	I	249;249;249;200	ENSP00000355961:T249I;ENSP00000355960:T249I;ENSP00000355959:T249I;ENSP00000388908:T200I	ENSP00000355959:T249I	T	-	2	0	INTS7	210247225	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	6.882000	0.75589	2.894000	0.99253	0.591000	0.81541	ACA	-	superfamily_ARM-type_fold		0.378	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	protein_coding	OTTHUMT00000090142.1	G	NM_015434	-		212180602	-1	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	SNP	0.998	A	A	212180602	G	A	212180602	3	1	106	1	0	0	0	0	1	0	0	0	7785	1377	48	2	2202	2	INTS7	1	212180602	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	2168179	212180602	37070019	12	6906											
USH2A	7399	genome.wustl.edu	37	chr1	216011349	216011349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaccttgaagtgatgccacGaattgtgggtgttggtatat	13	5	0	2	rs576236830		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:216011349G>A	ENST00000307340.3	-	47	9741	c.9355C>T	c.(9355-9357)Cgt>Tgt	p.R3119C	USH2A_ENST00000366943.2_Missense_Mutation_p.R3119C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3119	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGATGCCACGAATTGTGGGT	0.398										HNSCC(13;0.011)			G|||	1	0.000199681	0	0	5008	,	,		16748	0		0	False		,,,				2504	0.001																0								ENSG00000042781						227	204	212					1																	216011349		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9355C>T	1.37:g.216011349G>A	ENSP00000305941:p.Arg3119Cys	Somatic	0	37	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	9	68.97	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R3119C	ENST00000307340.3	37	c.9355	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157195	0.38119	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.01	4.09	0.47781	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.301359	0.23330	N	0.049349	T	0.47857	0.1468	L	0.40543	1.245	0.09310	N	0.99999	D	0.62365	0.991	B	0.44315	0.446	T	0.43893	-0.9363	10	0.52906	T	0.07	.	15.0901	0.72185	0.0:0.1426:0.8574:0.0	.	3119	O75445	USH2A_HUMAN	C	3119	ENSP00000305941:R3119C;ENSP00000355910:R3119C	ENSP00000305941:R3119C	R	-	1	0	USH2A	214077972	0.981000	0.34729	0.009000	0.14445	0.035000	0.12851	4.755000	0.62198	1.089000	0.41292	0.655000	0.94253	CGT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		216011349	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.128	A	A	216011349	G	A	216011349	3	1	106	1	0	0	0	0	1	0	0	0	17043	1058	37	1	6357	1	USH2A	1	216011349	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	3830747	216011349	33239272	13	6907											
TMEM63A	9725	genome.wustl.edu	37	chr1	226036675	226036675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggatggtgagcagcaGcaccaggaaggtgaacagag	16	8	0	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:226036675G>A	ENST00000366835.3	-	22	2380	c.2110C>T	c.(2110-2112)Ctg>Ttg	p.L704L	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	704					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTGAGCAGCAGCACCAGGAAG	0.617																																																	0								ENSG00000196187						40	36	37					1																	226036675		2203	4299	6502	TMEM63A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2110C>T	1.37:g.226036675G>A		Somatic	0	74	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP							pfam_DUF221	p.L704	ENST00000366835.3	37	c.2110	CCDS31042.1	1																																																																																			-	NULL		0.617	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	protein_coding	OTTHUMT00000091154.2	G	NM_014698	-		226036675	-1	no_errors	ENST00000366835	ensembl	human	known	74_37	silent	SNP	0.007	A	A	226036675	G	A	226036675	2	1	106	1	0	0	0	0	0	0	0	1	16197	962	34	2		2	TMEM63A	1	226036675	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	10025326	226036675	23213946	14	6908											
OR13G1	441933	genome.wustl.edu	37	chr1	247836034	247836034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccatctcagctcccagagAccatgtgaacaagaagagct	8	12	1	4			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr1:247836034A>T	ENST00000359688.2	-	1	331	c.310T>A	c.(310-312)Tct>Act	p.S104T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTCCCAGAGACCATGTGAAC	0.458																																																	0								ENSG00000197437						86	71	76					1																	247836034		2203	4300	6503	OR13G1	SO:0001583	missense	0			-	HGNC	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.310T>A	1.37:g.247836034A>T	ENSP00000352717:p.Ser104Thr	Somatic	0	45	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S104T	ENST00000359688.2	37	c.310	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659909	0.29515	.	.	ENSG00000197437	ENST00000359688	T	0.00348	8.0	4.2	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000599	T	0.00241	0.0007	N	0.12502	0.225	0.18873	N	0.999985	P	0.47253	0.892	P	0.55545	0.778	T	0.53760	-0.8393	10	0.72032	D	0.01	-34.3734	3.5848	0.07966	0.5965:0.197:0.2065:0.0	.	104	Q8NGZ3	O13G1_HUMAN	T	104	ENSP00000352717:S104T	ENSP00000352717:S104T	S	-	1	0	OR13G1	245902657	0.000000	0.05858	0.598000	0.28837	0.942000	0.58702	0.118000	0.15605	0.244000	0.21351	0.460000	0.39030	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	protein_coding	OTTHUMT00000096869.1	A	NM_001005487	-		247836034	-1	no_errors	ENST00000359688	ensembl	human	known	74_37	missense	SNP	0.390	T	T	247836034	A	T	247836034	3	4	106	1	0	0	0	0	1	0	0	0	10944	275	10	5	617	5	OR13G1	1	247836034	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	21799359	247836034	1414587	15	6909											
POLR1A	25885	genome.wustl.edu	37	chr2	86315922	86315922	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttacttgcagtggggacaGcgcttagcattcatatgtgc	11	9	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:86315922G>T	ENST00000263857.6	-	5	990	c.612C>A	c.(610-612)cgC>cgA	p.R204R	POLR1A_ENST00000409681.1_Silent_p.R204R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	204					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTGGGGACAGCGCTTAGCAT	0.443																																																	0								ENSG00000068654						127	131	130					2																	86315922		2020	4171	6191	POLR1A	SO:0001819	synonymous_variant	0			-	HGNC	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.612C>A	2.37:g.86315922G>T		Somatic	0	18	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP							pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R204	ENST00000263857.6	37	c.612	CCDS42706.1	2																																																																																			-	pfam_RNA_pol_Rpb1_1		0.443	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	protein_coding	OTTHUMT00000329830.2	G	NM_015425	-		86315922	-1	no_errors	ENST00000263857	ensembl	human	known	74_37	silent	SNP	0.733	T	T	86315922	G	T	86315922	2	4	106	1	0	0	0	0	0	0	0	1	12211	958	34	3		3	POLR1A	2	86315922	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		86315922	156883451	16	6910											
SEPT10	151011	genome.wustl.edu	37	chr2	110310685	110310685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcagcttctttcaaTatggcttctttctcctttac	3	13	6	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:110310685T>C	ENST00000397712.2	-	9	1518	c.1140A>G	c.(1138-1140)atA>atG	p.I380M	SEPT10_ENST00000415095.1_Missense_Mutation_p.I380M|SEPT10_ENST00000334001.6_Missense_Mutation_p.I247M|SEPT10_ENST00000356688.4_Missense_Mutation_p.I380M|SEPT10_ENST00000397714.2_Missense_Mutation_p.I357M|SEPT10_ENST00000545389.1_Missense_Mutation_p.I213M|SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000437928.1_Missense_Mutation_p.I365M	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	380					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CTTCTTTCAATATGGCTTCTT	0.378																																																	0								ENSG00000186522						207	208	208					2																	110310685		1917	4143	6060	SEPT10	SO:0001583	missense	0			-	HGNC	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"Septins"	14349	protein-coding gene	gene with protein product	"sept1-like"	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1140A>G	2.37:g.110310685T>C	ENSP00000380824:p.Ile380Met	Somatic	0	38	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP							pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.I380M	ENST00000397712.2	37	c.1140	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	T	9.234	1.036646	0.19669	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.91	-9.82	0.00484	.	0.230078	0.28125	N	0.016507	T	0.55986	0.1955	N	0.14661	0.345	0.09310	N	1	B;P;P;B;B	0.43633	0.148;0.813;0.593;0.23;0.129	B;B;B;B;B	0.40901	0.092;0.151;0.343;0.188;0.092	T	0.56974	-0.7890	10	0.72032	D	0.01	.	1.1067	0.01695	0.1736:0.245:0.2886:0.2928	.	247;213;380;357;380	B7Z371;B7Z277;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;SEP10_HUMAN	M	380;380;357;247;365;213;380	ENSP00000349116:I380M;ENSP00000380824:I380M;ENSP00000380826:I357M;ENSP00000334234:I247M;ENSP00000407790:I365M;ENSP00000439364:I213M;ENSP00000396728:I380M	ENSP00000334234:I247M	I	-	3	3	SEPT10	109667974	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-1.572000	0.02136	-1.334000	0.02244	-0.468000	0.05107	ATA	-	pirsf_Septin		0.378	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	protein_coding	OTTHUMT00000337804.1	T	NM_144710	-		110310685	-1	no_errors	ENST00000397712	ensembl	human	known	74_37	missense	SNP	0.005	C	C	110310685	T	C	110310685	3	2	106	1	0	0	0	0	1	0	0	0	14068	1396	49	5	236	5	SEPT10	2	110310685	Missense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	23994763	110310685	132888688	17	6911											
SCN2A	6326	genome.wustl.edu	37	chr2	166168534	166168534	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattcctttctctttaaataGgtcacttttattttttagag	4	6	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:166168534G>T	ENST00000375437.2	+	8	1260		c.e8-1		SCN2A_ENST00000357398.3_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTAAATAGGTCACTTTTA	0.383																																																	0								ENSG00000136531						101	99	99					2																	166168534		2202	4299	6501	SCN2A	SO:0001630	splice_region_variant	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.971-1G>T	2.37:g.166168534G>T		Somatic	0	35	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Splice_Site	SNP							-	e7-1	ENST00000375437.2	37	c.971-1	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378366	0.82682	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4127	0.94681	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCN2A	165876780	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.476000	0.97823	2.639000	0.89480	0.655000	0.94253	.	-	-		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	G	NM_021007	-	Intron	166168534	1	no_errors	ENST00000283256	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	166168534	G	T	166168534	5	4	106	1	0	0	0	0	0	0	1	0	13924	1014	35	3	1092	3	SCN2A	2	166168534	Splice_Site	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	55857849	166168534	77030839	18	6912											
SCN9A	6335	genome.wustl.edu	37	chr2	167085227	167085227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagagataggtaaccaaGtccgacattatcaaagttca	8	8	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:167085227G>T	ENST00000409435.1	-	21	4179	c.4180C>A	c.(4180-4182)Ctt>Att	p.L1394I	SCN9A_ENST00000409672.1_Missense_Mutation_p.L1383I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1395I|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1395I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1394					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGTAACCAAGTCCGACATTA	0.353																																																	0								ENSG00000169432						183	180	181					2																	167085227		1868	4119	5987	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4180C>A	2.37:g.167085227G>T	ENSP00000386330:p.Leu1394Ile	Somatic	0	57	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	9	70.00	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L1395I	ENST00000409435.1	37	c.4183	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	9.799	1.179898	0.21787	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.23	3.27	0.37495	.	0.466032	0.20443	N	0.092245	D	0.93497	0.7925	N	0.16602	0.42	0.31333	N	0.684521	B	0.09022	0.002	B	0.16722	0.016	D	0.89420	0.3709	10	0.25751	T	0.34	.	7.7026	0.28632	0.0:0.402:0.3567:0.2413	.	1383	E7EUN6	.	I	1383;1395;1395;1394	ENSP00000386306:L1383I;ENSP00000364536:L1395I;ENSP00000304748:L1395I;ENSP00000386330:L1394I	ENSP00000304748:L1395I	L	-	1	0	SCN9A	166793473	0.051000	0.20477	1.000000	0.80357	0.902000	0.53008	0.954000	0.29175	2.454000	0.82982	0.557000	0.71058	CTT	-	pfam_Ion_trans_dom		0.353	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	G	NM_002977	-		167085227	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	0.994	T	T	167085227	G	T	167085227	3	4	106	1	0	0	0	0	1	0	0	0	13933	1029	36	3	1810	3	SCN9A	2	167085227	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	916693	167085227	76114146	19	6913											
ZAK	51776	genome.wustl.edu	37	chr2	174085893	174085893	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatagcttctcttgcctcttGctgcaagaatgtctgaggag	11	9	3	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:174085893G>T	ENST00000375213.3	+	11	1065				MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.A335S|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.A335S|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.A234S	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CTTGCCTCTTGCTGCAAGAAT	0.393																																																	0								ENSG00000091436						56	59	58					2																	174085893		2203	4300	6503	MLTK	SO:0001627	intron_variant	0			-	Uniprot_gn																												ENST00000375213.3:c.987+3915G>T	2.37:g.174085893G>T		Somatic	0	66	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A335S	ENST00000375213.3	37	c.1003	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	8.200	0.797980	0.16327	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;T	0.78481	-0.79;-0.79;-1.18	5.92	5.02	0.67125	.	.	.	.	.	T	0.59238	0.2179	N	0.08118	0	0.30589	N	0.761717	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47611	-0.9104	9	0.08837	T	0.75	.	16.0582	0.80820	0.0:0.0:0.861:0.139	.	335;335	A8K710;D4Q8H0	.;.	S	335;335;234	ENSP00000439414:A335S;ENSP00000340257:A335S;ENSP00000399787:A234S	ENSP00000340257:A335S	A	+	1	0	AC013461.1	173794139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.154000	0.64894	1.458000	0.47871	0.655000	0.94253	GCT	-	NULL		0.393	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	G		-		174085893	1	no_errors	ENST00000338983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	174085893	G	T	174085893	1	4	106	0	1	0	0	0	0	0	0	0	17519	1319	46	3		3	ZAK	2	174085893	Intron	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	7000666	174085893	69113480	20	6914											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209218636	209218636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactaggtttttgatttgaaGggctctcttaggaatcggaa	11	5	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:209218636G>T	ENST00000264380.4	+	40	6017	c.5859G>T	c.(5857-5859)aaG>aaT	p.K1953N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1953	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGATTTGAAGGGCTCTCTTA	0.358																																																	0								ENSG00000115020						76	78	77					2																	209218636		2203	4300	6503	PIKFYVE	SO:0001583	missense	0			-	HGNC	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5859G>T	2.37:g.209218636G>T	ENSP00000264380:p.Lys1953Asn	Somatic	0	45	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP							pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.K1953N	ENST00000264380.4	37	c.5859	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569695	0.65765	.	.	ENSG00000115020	ENST00000264380	D	0.85171	-1.95	6.17	3.45	0.39498	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.94453	0.8215	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93932	0.7215	10	0.87932	D	0	-24.3217	10.4689	0.44624	0.2562:0.0:0.7438:0.0	.	1953	Q9Y2I7	FYV1_HUMAN	N	1953	ENSP00000264380:K1953N	ENSP00000264380:K1953N	K	+	3	2	PIKFYVE	208926881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.717000	0.37991	0.500000	0.27991	-0.119000	0.15052	AAG	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	protein_coding	OTTHUMT00000256477.2	G	NM_015040	-		209218636	1	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	SNP	1.000	T	T	209218636	G	T	209218636	3	4	106	1	0	0	0	0	1	0	0	0	11926	991	35	3	6024	3	PIKFYVE	2	209218636	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	35132743	209218636	33980737	21	6915											
TUBA4A	7277	genome.wustl.edu	37	chr2	220115874	220115874	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggatagagttgtagggctCgaccacggctgtagacacct	13	10	0	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:220115874C>G	ENST00000248437.4	-	4	720	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.E168Q|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	183					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TTGTAGGGCTCGACCACGGCT	0.557																																																	0								ENSG00000127824																																			TUBA4A	SO:0001583	missense	0			-	HGNC	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.547G>C	2.37:g.220115874C>G	ENSP00000248437:p.Glu183Gln	Somatic	0	75	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E183Q	ENST00000248437.4	37	c.547	CCDS2438.1	2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227468	0.58668	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989;ENST00000427737	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.05	5.05	0.67936	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86661	0.1904	10	0.87932	D	0	.	18.5898	0.91206	0.0:1.0:0.0:0.0	.	183	P68366	TBA4A_HUMAN	Q	183;168;30;168	ENSP00000248437:E183Q;ENSP00000375938:E168Q;ENSP00000396212:E30Q;ENSP00000408194:E168Q	ENSP00000248437:E183Q	E	-	1	0	TUBA4A	219824118	1.000000	0.71417	0.965000	0.40720	0.950000	0.60333	7.538000	0.82048	2.633000	0.89246	0.650000	0.86243	GAG	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.557	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA4A	protein_coding	OTTHUMT00000256816.3	C	NM_006000	-		220115874	-1	no_errors	ENST00000248437	ensembl	human	known	74_37	missense	SNP	1.000	G	G	220115874	C	G	220115874	3	3	106	1	0	0	0	0	1	0	0	0	16756	893	31	4	803	4	TUBA4A	2	220115874	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	10897238	220115874	23083499	22	6916											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883837	228883837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccactgagcatgtcaccTcttctctttcacccagacca	6	16	4	2	rs370073181		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:228883837T>C	ENST00000392056.3	-	7	1779	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E578G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	578						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.E578V(1)		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)		GCATGTCACCTCTTCTCTTTC	0.552																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000153820	T	GLY/GLU,GLY/GLU	0,4406		0,0,2203	78	72	74		1733,1733	4.7	0.9	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPHKAP	NM_030623.3,NM_001142644.1	98,98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	578/1672,578/1701	228883837	1,13005	2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.1733A>G	2.37:g.228883837T>C	ENSP00000375909:p.Glu578Gly	Somatic	0	27	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.E578G	ENST00000392056.3	37	c.1733	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848937	0.51164	0.0	1.16E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.52295	0.67;0.67	5.84	4.68	0.58851	.	0.211367	0.48767	D	0.000165	T	0.48607	0.1509	M	0.73598	2.24	0.39967	D	0.974741	B;P	0.38473	0.058;0.633	B;B	0.37198	0.028;0.243	T	0.55477	-0.8135	10	0.87932	D	0	.	11.2548	0.49048	0.0:0.0713:0.0:0.9287	.	578;578	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	G	578	ENSP00000375909:E578G;ENSP00000339886:E578G	ENSP00000339886:E578G	E	-	2	0	SPHKAP	228592081	0.983000	0.35010	0.921000	0.36526	0.868000	0.49771	2.213000	0.42844	1.027000	0.39758	0.533000	0.62120	GAG	-	NULL		0.552	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	T	NM_030623	-		228883837	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.995	C	C	228883837	T	C	228883837	3	2	106	1	0	0	0	0	1	0	0	0	15055	1551	54	5	3393	5	SPHKAP	2	228883837	Missense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	8767963	228883837	14315536	23	6917											
SNED1	25992	genome.wustl.edu	37	chr2	241979560	241979561	+	Frame_Shift_Del	DEL	GT	GT	-													aggtggagaatggctctgcgGtgtgtgtgtgccaggccgga							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr2:241979560_241979561delGT	ENST00000310397.8	+	7	1114_1115	c.1114_1115delGT	c.(1114-1116)gtgfs	p.V372fs	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Frame_Shift_Del_p.V372fs|SNED1_ENST00000401884.1_Frame_Shift_Del_p.V372fs|SNED1_ENST00000405547.3_Frame_Shift_Del_p.V372fs	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	372	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like 1.				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)		TGGCTCTGCGGTGTGTGTGTGC	0.624																																																	0								ENSG00000162804																																			SNED1	SO:0001589	frameshift_variant	0				HGNC	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.1114_1115delGT	2.37:g.241979568_241979569delGT	ENSP00000308893:p.Val372fs	Somatic	0	77	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Del	DEL							pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C375fs	ENST00000310397.8	37	c.1114_1115	CCDS46562.1	2																																																																																			-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.624	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	GT	XM_059482			241979561	1	no_errors	ENST00000310397	ensembl	human	known	74_37	frame_shift_del	DEL	0.354:0.362	-	-	241979561	GT	-	241979560	7	5	106	1	0	1	0	1	0	0	0	0	14853	1261	44	0	1140	0	SNED1	2	241979560	Frame_Shift_Del	DEL	GT	TCGA-DX-A8BT-01A-11D-A37C-09	13095723	241979560	1219813	24	6918											
MYRIP	25924	genome.wustl.edu	37	chr3	40085724	40085724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcctaccagaagcaCgaaaaggcctgggtctgctg	12	12	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:40085724C>T	ENST00000302541.6	+	3	636	c.294C>T	c.(292-294)caC>caT	p.H98H	MYRIP_ENST00000396217.3_Missense_Mutation_p.T55M|MYRIP_ENST00000444716.1_Silent_p.H98H|MYRIP_ENST00000425621.1_Silent_p.H98H	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	98	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGAAGCACGAAAAGGCCT	0.552																																																	0								ENSG00000170011						79	71	73					3																	40085724		2203	4300	6503	MYRIP	SO:0001819	synonymous_variant	0			-	HGNC	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.294C>T	3.37:g.40085724C>T		Somatic	0	39	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP							pfam_Myrip/Melanophilin	p.T55M	ENST00000302541.6	37	c.164	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169616	0.38315	.	.	ENSG00000170011	ENST00000396217	T	0.23348	1.91	5.51	-11.0	0.00169	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23297	-1.0192	7	.	.	.	.	3.3998	0.07319	0.1522:0.0993:0.3132:0.4352	.	55	Q32M42	.	M	55	ENSP00000379519:T55M	.	T	+	2	0	MYRIP	40060728	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-0.460000	0.06720	-3.228000	0.00210	-0.251000	0.11542	ACG	-	NULL		0.552	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	protein_coding	OTTHUMT00000254181.2	C	NM_015460	-		40085724	1	no_errors	ENST00000396217	ensembl	human	known	74_37	missense	SNP	0.013	T	T	40085724	C	T	40085724	2	4	106	1	0	0	0	0	0	0	0	1	10102	535	19	1		1	MYRIP	3	40085724	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09		40085724	157936706	25	6919											
DRD3	1814	genome.wustl.edu	37	chr3	113850079	113850079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccattgctgagttttcgaaCttctaagctgagcttgggcg	12	9	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:113850079C>A	ENST00000460779.1	-	7	1181	c.892G>T	c.(892-894)Gtt>Ttt	p.V298F	DRD3_ENST00000467632.1_Missense_Mutation_p.V298F|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Missense_Mutation_p.V298F	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	298					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTTTTCGAACTTCTAAGCTG	0.532																																																	0								ENSG00000151577						183	189	187					3																	113850079		2203	4300	6503	DRD3	SO:0001583	missense	0			-	HGNC		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.892G>T	3.37:g.113850079C>A	ENSP00000419402:p.Val298Phe	Somatic	0	86	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	A1A4V5|Q4VBM8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.V298F	ENST00000460779.1	37	c.892	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270257	0.59540	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.73789	-0.78;-0.78;-0.78	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.74038	0.3664	L	0.52206	1.635	0.47778	D	0.999516	P;P;P	0.44816	0.844;0.844;0.73	P;P;P	0.49597	0.616;0.515;0.616	T	0.68025	-0.5518	10	0.20046	T	0.44	.	12.552	0.56231	0.0:0.924:0.0:0.076	.	298;298;298	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	F	298	ENSP00000419402:V298F;ENSP00000420662:V298F;ENSP00000373169:V298F	ENSP00000373169:V298F	V	-	1	0	DRD3	115332769	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.971000	0.63749	2.866000	0.98385	0.650000	0.86243	GTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt		0.532	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	protein_coding	OTTHUMT00000354699.1	C	NM_000796.3	-		113850079	-1	no_errors	ENST00000383673	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113850079	C	A	113850079	3	1	106	1	0	0	0	0	1	0	0	0	4760	565	20	3	318	3	DRD3	3	113850079	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	73764355	113850079	84172351	26	6920											
FSTL1	11167	genome.wustl.edu	37	chr3	120130771	120130771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatctcgatgcagttcacaGtggttgaggtaggtcttgcc	13	9	3	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:120130771G>T	ENST00000295633.3	-	4	584	c.228C>A	c.(226-228)caC>caA	p.H76Q	FSTL1_ENST00000424703.2_Missense_Mutation_p.H41Q	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	76	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GCAGTTCACAGTGGTTGAGGT	0.488																																																	0								ENSG00000163430						244	193	210					3																	120130771		2203	4300	6503	FSTL1	SO:0001583	missense	0			-	HGNC	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.228C>A	3.37:g.120130771G>T	ENSP00000295633:p.His76Gln	Somatic	0	69	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP							pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.H76Q	ENST00000295633.3	37	c.228	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756389	0.69648	.	.	ENSG00000163430	ENST00000295633;ENST00000424703;ENST00000469005	T;T;T	0.03801	3.8;3.8;3.8	5.22	2.42	0.29668	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	L	0.56340	1.77	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.998	T	0.00141	-1.1999	10	0.72032	D	0.01	-23.1113	9.9136	0.41421	0.2891:0.0:0.7109:0.0	.	41;76;76	B4DTT5;A8K523;Q12841	.;.;FSTL1_HUMAN	Q	76;41;76	ENSP00000295633:H76Q;ENSP00000394355:H41Q;ENSP00000418505:H76Q	ENSP00000295633:H76Q	H	-	3	2	FSTL1	121613461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.507000	0.53371	0.202000	0.20498	0.555000	0.69702	CAC	-	pfam_Kazal_dom,smart_Kazal_dom		0.488	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	protein_coding	OTTHUMT00000355399.1	G	NM_007085	-		120130771	-1	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120130771	G	T	120130771	3	4	106	1	0	0	0	0	1	0	0	0	6079	1020	36	3	730	3	FSTL1	3	120130771	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	6280692	120130771	77891659	27	6921											
FBXO40	51725	genome.wustl.edu	37	chr3	121340749	121340749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggctactgaggaggaacCaactatgaatggtgaaacca	12	7	0	4			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:121340749C>A	ENST00000338040.4	+	3	887	c.473C>A	c.(472-474)cCa>cAa	p.P158Q		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	158					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGGAGGAACCAACTATGAAT	0.507																																																	0								ENSG00000163833						93	100	97					3																	121340749		2203	4300	6503	FBXO40	SO:0001583	missense	0			-	HGNC	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.473C>A	3.37:g.121340749C>A	ENSP00000337510:p.Pro158Gln	Somatic	0	29	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP							superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.P158Q	ENST00000338040.4	37	c.473	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	C	0.708	-0.788236	0.02884	.	.	ENSG00000163833	ENST00000338040	T	0.41065	1.01	5.46	1.02	0.19986	.	0.862995	0.10130	N	0.712195	T	0.32823	0.0842	L	0.50333	1.59	0.09310	N	1	B	0.30973	0.302	B	0.24701	0.055	T	0.26360	-1.0105	10	0.52906	T	0.07	0.0137	6.2724	0.20961	0.0:0.5334:0.2939:0.1727	.	158	Q9UH90	FBX40_HUMAN	Q	158	ENSP00000337510:P158Q	ENSP00000337510:P158Q	P	+	2	0	FBXO40	122823439	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.145000	0.16157	0.644000	0.30656	0.650000	0.86243	CCA	-	NULL		0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	protein_coding	OTTHUMT00000355158.1	C	NM_016298	-		121340749	1	no_errors	ENST00000338040	ensembl	human	known	74_37	missense	SNP	0.001	A	A	121340749	C	A	121340749	3	1	106	1	0	0	0	0	1	0	0	0	5751	594	21	3	479	3	FBXO40	3	121340749	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	1209978	121340749	76681681	28	6922											
DNAJC13	23317	genome.wustl.edu	37	chr3	132235548	132235548	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatctttttccttcatagGtgctttgatctatttactgg	6	7	3	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:132235548G>A	ENST00000260818.6	+	48	5809	c.5561G>A	c.(5560-5562)gGt>gAt	p.G1854D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1854					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCCTTCATAGGTGCTTTGATC	0.323																																																	0								ENSG00000138246						65	63	64					3																	132235548		2203	4300	6503	DNAJC13	SO:0001630	splice_region_variant	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5561-1G>A	3.37:g.132235548G>A		Somatic	0	41	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.G1854D	ENST00000260818.6	37	c.5561	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608677	0.87258	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.55413	0.52	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.059006	0.64402	D	0.000002	T	0.77955	0.4208	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79771	-0.1663	9	.	.	.	.	19.8594	0.96778	0.0:0.0:1.0:0.0	.	1854	O75165	DJC13_HUMAN	D	1854;501	ENSP00000260818:G1854D	.	G	+	2	0	DNAJC13	133718238	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	9.449000	0.97603	2.691000	0.91804	0.650000	0.86243	GGT	-	superfamily_ARM-type_fold		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	G	NM_015268	-	Missense_Mutation	132235548	1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132235548	G	A	132235548	5	1	106	1	0	0	0	0	0	0	1	0	4634	1275	44	2	5747	2	DNAJC13	3	132235548	Splice_Site	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	10894799	132235548	65786882	29	6923											
STAG1	10274	genome.wustl.edu	37	chr3	136085903	136085903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggcctcaattttattaGcttcatcttcttcatcaccc	4	12	6	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:136085903G>T	ENST00000383202.2	-	25	2823	c.2567C>A	c.(2566-2568)gCt>gAt	p.A856D	STAG1_ENST00000536929.1_Missense_Mutation_p.A440D|STAG1_ENST00000236698.5_Missense_Mutation_p.A856D|STAG1_ENST00000434713.2_Missense_Mutation_p.A630D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	856					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AATTTTATTAGCTTCATCTTC	0.343																																																	0								ENSG00000118007						216	209	211					3																	136085903		2202	4299	6501	STAG1	SO:0001583	missense	0			-	HGNC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2567C>A	3.37:g.136085903G>T	ENSP00000372689:p.Ala856Asp	Somatic	0	53	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33	O00539|Q6P275	Missense_Mutation	SNP							pfam_STAG,superfamily_ARM-type_fold	p.A856D	ENST00000383202.2	37	c.2567	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848324	0.71603	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.34472	1.79;1.8;1.88;1.36	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.82923	2.615	0.80722	D	1	D;P	0.89917	1.0;0.63	D;B	0.91635	0.999;0.248	T	0.58803	-0.7572	10	0.19147	T	0.46	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	856;856	Q6P275;Q8WVM7	.;STAG1_HUMAN	D	856;856;630;440	ENSP00000372689:A856D;ENSP00000236698:A856D;ENSP00000404396:A630D;ENSP00000445787:A440D	ENSP00000236698:A856D	A	-	2	0	STAG1	137568593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	GCT	-	NULL		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	G	NM_005862	-		136085903	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136085903	G	T	136085903	3	4	106	1	0	0	0	0	1	0	0	0	15249	971	34	3	1249	3	STAG1	3	136085903	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	3850355	136085903	61936527	30	6924											
TXNDC6	347736	genome.wustl.edu	37	chr3	138037031	138037031	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacttccctctgtactTttcgaggacatcaagacgat	7	13	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:138037031T>A	ENST00000333911.3	-	4	253	c.226A>T	c.(226-228)Aag>Tag	p.K76*	NME9_ENST00000383180.2_Nonsense_Mutation_p.K54*|NME9_ENST00000536478.1_Nonsense_Mutation_p.K54*|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Nonsense_Mutation_p.K54*			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	76	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)										CCTCTGTACTTTTCGAGGACA	0.448																																																	0								ENSG00000181322						130	114	119					3																	138037031		2203	4300	6503	NME9	SO:0001587	stop_gained	0			-	HGNC	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.226A>T	3.37:g.138037031T>A	ENSP00000335444:p.Lys76*	Somatic	0	39	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q7Z4A8|Q8N1V7	Nonsense_Mutation	SNP							pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.K76*	ENST00000333911.3	37	c.226		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.200029|5.200029	0.94997|0.94997	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.304579|0.304579	0.34676|0.34676	N|N	0.003768|0.003768	T|.	0.33000|.	0.0848|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35724|.	-0.9777|.	4|.	.|0.02654	.|T	.|1	-19.3939|-19.3939	12.6045|12.6045	0.56514|0.56514	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	I|X	45|54;54;54;76;76	.|.	.|ENSP00000321929:K54X	K|K	-|-	2|1	0|0	TXNDC6|TXNDC6	139519721|139519721	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.654000|0.654000	0.38779|0.38779	2.277000|2.277000	0.43417|0.43417	1.865000|1.865000	0.54081|0.54081	0.402000|0.402000	0.26972|0.26972	AAA|AAG	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.448	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	protein_coding	OTTHUMT00000357583.1	T	NM_178130	-		138037031	-1	no_errors	ENST00000333911	ensembl	human	known	74_37	nonsense	SNP	0.992	A	A	138037031	T	A	138037031	4	1	106	1	0	0	0	0	0	1	0	0	16807	1850	64	5	659	5	TXNDC6	3	138037031	Nonsense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	1951128	138037031	59985399	31	6925											
PIK3CB	5291	genome.wustl.edu	37	chr3	138478102	138478102	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatccacaggtatggaGccatcagatgctatctgtga	11	8	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:138478102G>C	ENST00000477593.1	-	2	157	c.84C>G	c.(82-84)ggC>ggG	p.G28G	PIK3CB_ENST00000289153.2_Silent_p.G28G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	28	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)	CAGGTATGGAGCCATCAGATG	0.468																																																	0								ENSG00000051382						86	82	83					3																	138478102		2203	4300	6503	PIK3CB	SO:0001819	synonymous_variant	0			-	HGNC		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.84C>G	3.37:g.138478102G>C		Somatic	0	40	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	D3DNF0|Q24JU2	Silent	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G28	ENST00000477593.1	37	c.84	CCDS3104.1	3																																																																																			-	NULL		0.468	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	protein_coding	OTTHUMT00000358019.1	G		-		138478102	-1	no_errors	ENST00000289153	ensembl	human	known	74_37	silent	SNP	1.000	C	C	138478102	G	C	138478102	2	2	106	1	0	0	0	0	0	0	0	1	11916	958	34	4		4	PIK3CB	3	138478102	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	441071	138478102	59544328	32	6926											
PAQR9	344838	genome.wustl.edu	37	chr3	142681480	142681480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgggtaggtacaccagtcGgtacggctcttgcagcaggc	14	11	1	0	rs373178792		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:142681480G>A	ENST00000340634.3	-	1	698	c.699C>T	c.(697-699)acC>acT	p.T233T	RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	233						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TACACCAGTCGGTACGGCTCT	0.652																																																	0								ENSG00000188582						61	57	58					3																	142681480		2203	4300	6503	PAQR9	SO:0001819	synonymous_variant	0			-	HGNC	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.699C>T	3.37:g.142681480G>A		Somatic	0	31	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q147T6	Silent	SNP							pfam_HlyIII-related	p.T233	ENST00000340634.3	37	c.699	CCDS3128.1	3																																																																																			-	pfam_HlyIII-related		0.652	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	protein_coding	OTTHUMT00000354538.1	G	NM_198504	-		142681480	-1	no_errors	ENST00000340634	ensembl	human	known	74_37	silent	SNP	0.168	A	A	142681480	G	A	142681480	2	1	106	1	0	0	0	0	0	0	0	1	11444	1103	39	1		1	PAQR9	3	142681480	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	4203378	142681480	55340950	33	6927											
MED12L	116931	genome.wustl.edu	37	chr3	151107922	151107922	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccaatctcttactccAggtatgtgatgagaaagcac	8	10	1	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:151107922A>G	ENST00000474524.1	+	36	5540	c.5502A>G	c.(5500-5502)ccA>ccG	p.P1834P	MED12L_ENST00000273432.4_Splice_Site_p.P1694P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1834						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTTACTCCAGGTATGTGAT	0.483																																																	0								ENSG00000144893						115	128	124					3																	151107922		2203	4300	6503	MED12L	SO:0001630	splice_region_variant	0			-	HGNC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5503+1A>G	3.37:g.151107922A>G		Somatic	0	57	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1834	ENST00000474524.1	37	c.5502	CCDS33876.1	3																																																																																			-	pfam_Mediator_Med12_catenin-bd		0.483	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	protein_coding	OTTHUMT00000357707.2	A	NM_053002	-	Silent	151107922	1	no_errors	ENST00000474524	ensembl	human	known	74_37	silent	SNP	1.000	G	G	151107922	A	G	151107922	5	3	106	1	0	0	0	0	0	0	1	0	9431	202	7	5	5644	5	MED12L	3	151107922	Splice_Site	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	8426442	151107922	46914508	34	6928											
PLD1	5337	genome.wustl.edu	37	chr3	171455451	171455452	+	Splice_Site	INS	-	-	A													cagagaaagggatatacactINSaaaaaaaaaagtaaataaag					rs545683379|rs71178233		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:171455451_171455452insA	ENST00000351298.4	-	3	287		c.e3-2		PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000356327.5_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATATACACTAAAAAAAAAAG	0.327																																					NSCLC(149;2174 3517 34058)												0								ENSG00000075651																																			PLD1	SO:0001630	splice_region_variant	0				HGNC	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.161-2->T	3.37:g.171455461_171455461dupA		Somatic	0	35	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Splice_Site	INS							-	e2-2	ENST00000351298.4	37	c.161-3_161-2	CCDS3216.1	3																																																																																			-	-		0.327	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	protein_coding	OTTHUMT00000346730.2	-	NM_002662		Intron	171455452	-1	no_errors	ENST00000351298	ensembl	human	known	74_37	splice_site_ins	INS	0.999:0.901	A	A	171455452	-	A	171455451	8	5	106	1	0	1	1	0	0	0	1	0	12047	1536	53	0	3165	0	PLD1	3	171455451	Splice_Site	INS	-	TCGA-DX-A8BT-01A-11D-A37C-09	20347529	171455451	26566979	35	6929											
MFI2	4241	genome.wustl.edu	37	chr3	196733535	196733536	+	Frame_Shift_Ins	INS	-	-	G													aaactgggacacctcggctcINSgggccccgttggggcacagc							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr3:196733535_196733536insG	ENST00000296350.5	-	14	1935_1936	c.1822_1823insC	c.(1822-1824)cgafs	p.R608fs	MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACCTCGGCTCGGGCCCCGTTG	0.624																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000163975																																			MFI2	SO:0001589	frameshift_variant	0				HGNC		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1823dupC	3.37:g.196733538_196733538dupG	ENSP00000296350:p.Arg608fs	Somatic	0	40	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q9BQE2	Frame_Shift_Ins	INS							pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.R608fs	ENST00000296350.5	37	c.1823_1822	CCDS3325.1	3																																																																																			-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.624	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	protein_coding	OTTHUMT00000340458.1	-				196733536	-1	no_errors	ENST00000296350	ensembl	human	known	74_37	frame_shift_ins	INS	0.994:0.955	G	G	196733536	-	G	196733535	7	5	106	1	0	1	1	0	0	0	0	0	9524	884	31	0	405	0	MFI2	3	196733535	Frame_Shift_Ins	INS	-	TCGA-DX-A8BT-01A-11D-A37C-09	25278084	196733535	1288895	36	6930											
IDUA	3425	genome.wustl.edu	37	chr4	995626	995626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtaccaacttcttcactgGggaggcgggcgtgcggctgg	17	11	2	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:995626G>T	ENST00000247933.4	+	6	837	c.749G>T	c.(748-750)gGg>gTg	p.G250V	IDUA_ENST00000514224.1_Missense_Mutation_p.G118V|IDUA_ENST00000453894.1_Missense_Mutation_p.G203V	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	250					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTCTTCACTGGGGAGGCGGGC	0.721																																																	0								ENSG00000127415						13	14	14					4																	995626		2186	4275	6461	IDUA	SO:0001583	missense	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.749G>T	4.37:g.995626G>T	ENSP00000247933:p.Gly250Val	Somatic	0	41	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B3KWK6	Missense_Mutation	SNP							pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.G203V	ENST00000247933.4	37	c.608	CCDS3343.1	4	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231128	0.58777	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000514224	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.42	5.42	0.78866	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.95641	0.8698	10	0.54805	T	0.06	-13.4716	10.1987	0.43071	0.0907:0.0:0.9093:0.0	.	203;250	B3KWK6;P35475	.;IDUA_HUMAN	V	250;203;203;189;118	ENSP00000247933:G250V;ENSP00000396458:G203V;ENSP00000422952:G203V;ENSP00000423685:G189V;ENSP00000425081:G118V	ENSP00000247933:G250V	G	+	2	0	IDUA	985626	1.000000	0.71417	0.113000	0.21522	0.162000	0.22319	9.446000	0.97590	2.564000	0.86499	0.555000	0.69702	GGG	-	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_39		0.721	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	G	NM_000203	-		995626	1	no_errors	ENST00000453894	ensembl	human	known	74_37	missense	SNP	0.994	T	T	995626	G	T	995626	3	4	106	1	0	0	0	0	1	0	0	0	7506	1232	43	3	771	3	IDUA	4	995626	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		995626	190158650	37	6931											
C4orf14	84273	genome.wustl.edu	37	chr4	57832838	57832838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagcgtctgccctgtccAaggaggtgatatgcacaggg	14	10	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:57832838A>G	ENST00000264230.4	-	5	2949	c.1712T>C	c.(1711-1713)tTg>tCg	p.L571S		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	571					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGCCCTGTCCAAGGAGGTGAT	0.468																																																	0								ENSG00000084092						160	133	142					4																	57832838		2203	4300	6503	NOA1	SO:0001583	missense	0			-	HGNC	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1712T>C	4.37:g.57832838A>G	ENSP00000264230:p.Leu571Ser	Somatic	0	35	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	8	71.43	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.L571S	ENST00000264230.4	37	c.1712	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444947	0.63178	.	.	ENSG00000084092	ENST00000264230	T	0.32272	1.46	5.66	5.66	0.87406	.	0.160766	0.37623	N	0.002020	T	0.50871	0.1641	M	0.82193	2.58	0.53688	D	0.999976	D	0.54772	0.968	P	0.52627	0.704	T	0.57106	-0.7868	10	0.51188	T	0.08	.	15.8881	0.79269	1.0:0.0:0.0:0.0	.	571	Q8NC60	CD014_HUMAN	S	571	ENSP00000264230:L571S	ENSP00000264230:L571S	L	-	2	0	C4orf14	57527595	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	5.033000	0.64146	2.145000	0.66743	0.374000	0.22700	TTG	-	NULL		0.468	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	protein_coding	OTTHUMT00000250694.2	A	NM_032313	-		57832838	-1	no_errors	ENST00000264230	ensembl	human	known	74_37	missense	SNP	0.996	G	G	57832838	A	G	57832838	3	3	106	1	0	0	0	0	1	0	0	0	2253	131	5	5	396	5	C4orf14	4	57832838	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	56837212	57832838	133321438	38	6932											
ADAM29	11086	genome.wustl.edu	37	chr4	175898452	175898452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatttggggatgaagggAcctgatattggtgaagtgaa	14	4	0	4			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr4:175898452A>G	ENST00000359240.3	+	5	2446	c.1776A>G	c.(1774-1776)ggA>ggG	p.G592G	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.G592G|ADAM29_ENST00000514159.1_Silent_p.G592G|ADAM29_ENST00000445694.1_Silent_p.G592G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	592	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGATGAAGGGACCTGATATTG	0.413																																					Ovarian(140;1727 1835 21805 25838 41440)												0								ENSG00000168594						202	183	189					4																	175898452		2203	4300	6503	ADAM29	SO:0001819	synonymous_variant	0			-	HGNC	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1776A>G	4.37:g.175898452A>G		Somatic	0	47	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G592	ENST00000359240.3	37	c.1776	CCDS3823.1	4																																																																																			-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	protein_coding		A		-		175898452	1	no_errors	ENST00000359240	ensembl	human	known	74_37	silent	SNP	0.032	G	G	175898452	A	G	175898452	2	3	106	1	0	0	0	0	0	0	0	1	247	262	10	5		5	ADAM29	4	175898452	Silent	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	118065614	175898452	15255824	39	6933											
SPEF2	79925	genome.wustl.edu	37	chr5	35700617	35700617	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgagatacctgtgaatcaaGactgtatcctagatggtttt	10	6	1	4			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:35700617G>A	ENST00000356031.3	+	16	2315	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.D716N|SPEF2_ENST00000509059.1_Missense_Mutation_p.D716N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	721					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGAATCAAGACTGTATCCT	0.363																																																	0								ENSG00000152582						79	72	74					5																	35700617		1824	4089	5913	SPEF2	SO:0001583	missense	0			-	HGNC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2161G>A	5.37:g.35700617G>A	ENSP00000348314:p.Asp721Asn	Somatic	0	25	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP							pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.D721N	ENST00000356031.3	37	c.2161	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597830	0.13875	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.99	0.607	0.17564	.	0.538685	0.18461	N	0.140539	T	0.54647	0.1871	N	0.16066	0.365	0.47621	D	0.999471	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.28170	-1.0052	10	0.41790	T	0.15	.	10.1389	0.42723	0.1814:0.1089:0.7096:0.0	.	716;716;721	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	N	721;716;716;227	ENSP00000348314:D721N;ENSP00000421593:D716N;ENSP00000412125:D716N;ENSP00000421744:D227N	ENSP00000348314:D721N	D	+	1	0	SPEF2	35736374	1.000000	0.71417	0.517000	0.27799	0.018000	0.09664	1.238000	0.32707	-0.451000	0.07097	-0.795000	0.03280	GAC	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase		0.363	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	protein_coding	OTTHUMT00000367199.1	G	NM_144722	-		35700617	1	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	SNP	0.819	A	A	35700617	G	A	35700617	3	1	106	1	0	0	0	0	1	0	0	0	15042	942	33	2	2244	2	SPEF2	5	35700617	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		35700617	145214643	40	6934											
UGT3A1	133688	genome.wustl.edu	37	chr5	35988629	35988629	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatctgagacacccggTccaacagtaggtaatggctt	11	9	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:35988629T>A	ENST00000274278.3	-	2	476	c.119A>T	c.(118-120)gAc>gTc	p.D40V	UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D40V|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	40						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACACCCGGTCCAACAGTAG	0.388																																																	0								ENSG00000145626						89	85	86					5																	35988629		2203	4300	6503	UGT3A1	SO:0001583	missense	0			-	HGNC		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.119A>T	5.37:g.35988629T>A	ENSP00000274278:p.Asp40Val	Somatic	0	71	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D40V	ENST00000274278.3	37	c.119	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041737	0.35989	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	T;T	0.59772	0.24;0.24	3.2	3.2	0.36748	.	1.018420	0.07916	U	0.975057	T	0.59487	0.2197	L	0.48362	1.52	0.58432	D	0.999998	B;B	0.30114	0.269;0.157	B;B	0.40782	0.244;0.34	T	0.56559	-0.7959	10	0.66056	D	0.02	.	10.0815	0.42393	0.0:0.0:0.0:1.0	.	40;40	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	V	40	ENSP00000274278:D40V;ENSP00000427079:D40V	ENSP00000274278:D40V	D	-	2	0	UGT3A1	36024386	0.024000	0.19004	0.007000	0.13788	0.311000	0.27955	1.912000	0.39946	1.396000	0.46663	0.374000	0.22700	GAC	-	pfam_UDP_glucos_trans		0.388	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	protein_coding	OTTHUMT00000253770.2	T	NM_152404	-		35988629	-1	no_errors	ENST00000274278	ensembl	human	known	74_37	missense	SNP	0.468	A	A	35988629	T	A	35988629	3	1	106	1	0	0	0	0	1	0	0	0	16970	1667	58	5	1558	5	UGT3A1	5	35988629	Missense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	288012	35988629	144926631	41	6935											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41005734	41005734	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgactccgtgttgccAcactgccatgctcctagaaa	8	13	0	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:41005734A>T	ENST00000399564.4	-	35	4213	c.3763T>A	c.(3763-3765)Tgg>Agg	p.W1255R	MROH2B_ENST00000506092.2_Missense_Mutation_p.W810R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1255																	CCGTGTTGCCACACTGCCATG	0.443																																																	0								ENSG00000171495						66	68	67					5																	41005734		2041	4209	6250	MROH2B	SO:0001583	missense	0			-	HGNC		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.3763T>A	5.37:g.41005734A>T	ENSP00000382476:p.Trp1255Arg	Somatic	0	72	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.W1255R	ENST00000399564.4	37	c.3763	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683765	0.68157	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01295	5.04;5.29	6.15	6.15	0.99193	Armadillo-type fold (1);	0.221387	0.32852	N	0.005562	T	0.02533	0.0077	L	0.54323	1.7	0.38926	D	0.957844	B	0.32968	0.392	B	0.36766	0.232	T	0.61377	-0.7075	10	0.25106	T	0.35	.	13.1804	0.59651	1.0:0.0:0.0:0.0	.	1255	Q7Z745	HTRB2_HUMAN	R	810;960;1255	ENSP00000441504:W810R;ENSP00000382476:W1255R	ENSP00000296803:W960R	W	-	1	0	HEATR7B2	41041491	0.986000	0.35501	1.000000	0.80357	0.966000	0.64601	2.786000	0.47790	2.363000	0.80096	0.523000	0.50628	TGG	-	superfamily_ARM-type_fold		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	A	NM_173489	-		41005734	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	0.999	T	T	41005734	A	T	41005734	3	4	106	1	0	0	0	0	1	0	0	0	7037	159	6	5	1026	5	HEATR7B2	5	41005734	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	5017105	41005734	139909526	42	6936											
PELO	53918	genome.wustl.edu	37	chr5	52096725	52096725	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgggccaaggtggaggtgaAcatccctaggaaaaggaaag	15	7	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:52096725A>T	ENST00000274311.2	+	2	1482	c.497A>T	c.(496-498)aAc>aTc	p.N166I	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	166					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GTGGAGGTGAACATCCCTAGG	0.567																																																	0								ENSG00000152684						93	81	85					5																	52096725		2203	4300	6503	PELO	SO:0001583	missense	0			-	HGNC		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.497A>T	5.37:g.52096725A>T	ENSP00000274311:p.Asn166Ile	Somatic	0	30	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q9GZS6|Q9Y306	Missense_Mutation	SNP							pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.N166I	ENST00000274311.2	37	c.497	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306019	0.40795	.	.	ENSG00000152684	ENST00000274311	T	0.45276	0.9	5.4	1.52	0.23074	eRF1 domain 2 (1);	0.122639	0.53938	U	0.000045	T	0.33118	0.0852	L	0.60845	1.875	0.39573	D	0.969307	B	0.30973	0.302	B	0.29077	0.098	T	0.11767	-1.0574	10	0.56958	D	0.05	-22.0759	4.802	0.13301	0.4958:0.2871:0.2171:0.0	.	166	Q9BRX2	PELO_HUMAN	I	166	ENSP00000274311:N166I	ENSP00000274311:N166I	N	+	2	0	PELO	52132482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.066000	0.41452	0.110000	0.17919	0.460000	0.39030	AAC	-	pfam_eRF1_2,tigrfam_Transl_rel_pelota-like		0.567	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	protein_coding	OTTHUMT00000214040.1	A	NM_015946	-		52096725	1	no_errors	ENST00000274311	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52096725	A	T	52096725	3	4	106	1	0	0	0	0	1	0	0	0	11726	43	2	5	499	5	PELO	5	52096725	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	11090991	52096725	128818535	43	6937											
AGGF1	55109	genome.wustl.edu	37	chr5	76358970	76358970	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaaacaagaacaaaAaaaactgggacaaagcacga	6	9	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:76358970A>T	ENST00000312916.7	+	14	2420	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	680					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CAAGAACAAAAAAAACTGGGA	0.463																																																	0								ENSG00000164252						143	156	152					5																	76358970		2203	4300	6503	AGGF1	SO:0001587	stop_gained	0			-	HGNC	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.2038A>T	5.37:g.76358970A>T	ENSP00000316109:p.Lys680*	Somatic	0	29	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	O00581|Q53YS3|Q9BU84|Q9NW66	Nonsense_Mutation	SNP							pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.K680*	ENST00000312916.7	37	c.2038	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	42	9.560002	0.99205	.	.	ENSG00000164252	ENST00000312916	.	.	.	5.47	5.47	0.80525	.	0.092425	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2821	15.5576	0.76208	1.0:0.0:0.0:0.0	.	.	.	.	X	680	.	ENSP00000316109:K680X	K	+	1	0	AGGF1	76394726	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.938000	0.75904	2.073000	0.62155	0.528000	0.53228	AAA	-	NULL		0.463	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	protein_coding	OTTHUMT00000219971.2	A	NM_018046	-		76358970	1	no_errors	ENST00000312916	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	76358970	A	T	76358970	4	4	106	1	0	0	0	0	0	1	0	0	382	15	1	5	2092	5	AGGF1	5	76358970	Nonsense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	24262245	76358970	104556290	44	6938											
LOC153328	153328	genome.wustl.edu	37	chr5	135188365	135188365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcagccagcaccgctgCggggagccagaggccagtcc	13	16	1	1	rs368023667		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:135188365C>T	ENST00000420621.1	+	4	448	c.276C>T	c.(274-276)tgC>tgT	p.C92C	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Silent_p.C38C|SLC25A48_ENST00000412661.2_Silent_p.C92C|SLC25A48_ENST00000274513.5_Silent_p.C92C			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	92					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGCACCGCTGCGGGGAGCCAG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		17722	0		0	False		,,,				2504	0																0								ENSG00000145832						58	69	65					5																	135188365		1946	4122	6068	SLC25A48	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"Solute carriers"	30451	protein-coding gene	gene with protein product	"HCC-down-regulated mitochondrial carrier protein"					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.276C>T	5.37:g.135188365C>T		Somatic	0	38	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	19	50.00	Q8TAV9	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C92	ENST00000420621.1	37	c.276		5																																																																																			-	superfamily_Mt_carrier_dom		0.667	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	protein_coding		C	NM_145282	-		135188365	1	no_errors	ENST00000420621	ensembl	human	known	74_37	silent	SNP	0.862	T	T	135188365	C	T	135188365	2	4	106	1	0	0	0	0	0	0	0	1	8873	776	27	1		1	LOC153328	5	135188365	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	58829395	135188365	45726895	45	6939											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140348132	140348132	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcagccttcgagatggTgcctcgaactgcccctgctg	12	14	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:140348132T>G	ENST00000289269.5	+	1	2313	c.1781T>G	c.(1780-1782)gTg>gGg	p.V594G	PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	594	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(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGAGATGGTGCCTCGAACT	0.517																																					Melanoma(190;638 2083 3390 11909 52360)												0								ENSG00000243232						101	87	92					5																	140348132		2203	4300	6503	PCDHAC2	SO:0001583	missense	0			-	HGNC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1781T>G	5.37:g.140348132T>G	ENSP00000289269:p.Val594Gly	Somatic	0	24	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V594G	ENST00000289269.5	37	c.1781	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460327	0.63401	.	.	ENSG00000243232	ENST00000289269	T	0.64618	-0.11	5.87	5.87	0.94306	Cadherin (2);Cadherin-like (1);	0.000000	0.38005	N	0.001852	D	0.84183	0.5416	H	0.95004	3.61	0.80722	D	1	D;D	0.67145	0.991;0.996	D;P	0.65684	0.937;0.906	D	0.88767	0.3261	10	0.87932	D	0	.	16.2806	0.82678	0.0:0.0:0.0:1.0	.	594;594	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	G	594	ENSP00000289269:V594G	ENSP00000289269:V594G	V	+	2	0	PCDHAC2	140328316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.248000	0.74166	0.533000	0.62120	GTG	-	superfamily_Cadherin-like,pfscan_Cadherin		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	protein_coding	OTTHUMT00000251802.2	T	NM_018899	-		140348132	1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140348132	T	G	140348132	3	3	106	1	0	0	0	0	1	0	0	0	11535	1696	59	5	1783	5	PCDHAC2	5	140348132	Missense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	5159767	140348132	40567128	46	6940											
PCDHB13	56123	genome.wustl.edu	37	chr5	140594306	140594306	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaagcgctggaccgagAggaagaagctgagctcaggt	16	8	1	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:140594306A>T	ENST00000341948.4	+	1	798	c.611A>T	c.(610-612)gAg>gTg	p.E204V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	204	Cadherin 2. {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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGACCGAGAGGAAGAAGCT	0.542																																																	0								ENSG00000187372						53	58	56					5																	140594306		2202	4279	6481	PCDHB13	SO:0001583	missense	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.611A>T	5.37:g.140594306A>T	ENSP00000345491:p.Glu204Val	Somatic	0	70	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A8K9V6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E204V	ENST00000341948.4	37	c.611	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	a	21.2	4.110512	0.77210	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.73152	-0.72	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90390	0.6992	H	0.99919	4.95	0.42849	D	0.994075	D	0.89917	1.0	D	0.97110	1.0	D	0.90635	0.4570	9	0.87932	D	0	.	7.9204	0.29843	0.895:0.0:0.105:0.0	.	204	Q9Y5F0	PCDBD_HUMAN	V	204	ENSP00000345491:E204V	ENSP00000345491:E204V	E	+	2	0	PCDHB13	140574490	1.000000	0.71417	0.047000	0.18901	0.453000	0.32348	9.265000	0.95647	1.369000	0.46134	0.254000	0.18369	GAG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.542	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	A	NM_018933	-		140594306	1	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	SNP	0.974	T	T	140594306	A	T	140594306	3	4	106	1	0	0	0	0	1	0	0	0	11540	304	11	5	613	5	PCDHB13	5	140594306	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	246174	140594306	40320954	47	6941											
BOD1	91272	genome.wustl.edu	37	chr5	173036274	173036274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgagatggagctggagggtCctggccttcgggctctggag	18	9	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr5:173036274C>A	ENST00000311086.4	-	3	749	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	BOD1_ENST00000285908.5_Intron|BOD1_ENST00000480951.1_Intron|BOD1_ENST00000471339.1_5'Flank	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	176					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GCTGGAGGGTCCTGGCCTTCG	0.517																																																	0								ENSG00000145919						97	94	95					5																	173036274		2203	4300	6503	BOD1	SO:0001583	missense	0			-	HGNC	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.526G>T	5.37:g.173036274C>A	ENSP00000309644:p.Asp176Tyr	Somatic	0	78	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51	B4DXH8|Q9BTW1	Missense_Mutation	SNP							NULL	p.D176Y	ENST00000311086.4	37	c.526	CCDS4389.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.443124|4.443124	0.83993|0.83993	.|.	.|.	ENSG00000145919|ENSG00000145919	ENST00000311086|ENST00000477985	.|.	.|.	.|.	5.86|5.86	4.98|4.98	0.66077|0.66077	.|.	0.156460|.	0.56097|.	D|.	0.000022|.	T|T	0.54464|0.54464	0.1860|0.1860	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.36789|.	0.57|.	B|.	0.36885|.	0.235|.	T|T	0.47341|0.47341	-0.9125|-0.9125	9|5	0.87932|.	D|.	0|.	-19.8745|-19.8745	14.3972|14.3972	0.67020|0.67020	0.0:0.9297:0.0:0.0703|0.0:0.9297:0.0:0.0703	.|.	176|.	Q96IK1|.	BOD1_HUMAN|.	Y|V	176|108	.|.	ENSP00000309644:D176Y|.	D|G	-|-	1|2	0|0	BOD1|BOD1	172968880|172968880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.356000|5.356000	0.66052|0.66052	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAC|GGA	-	NULL		0.517	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1	protein_coding	OTTHUMT00000252963.1	C	NM_138369	-		173036274	-1	no_errors	ENST00000311086	ensembl	human	known	74_37	missense	SNP	1.000	A	A	173036274	C	A	173036274	3	1	106	1	0	0	0	0	1	0	0	0	1482	855	30	3	67	3	BOD1	5	173036274	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	32441968	173036274	7878986	48	6942											
MYLIP	29116	genome.wustl.edu	37	chr6	16143949	16143949	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatagcttatcctgtggtgCagatggccacccagtcagga	13	10	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:16143949C>T	ENST00000356840.3	+	5	880	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	MIR4639_ENST00000584938.1_RNA|MYLIP_ENST00000349606.4_Nonsense_Mutation_p.Q47*	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TCCTGTGGTGCAGATGGCCAC	0.473																																																	0								ENSG00000007944						126	115	119					6																	16143949		2203	4300	6503	MYLIP	SO:0001587	stop_gained	0			-	HGNC	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.682C>T	6.37:g.16143949C>T	ENSP00000349298:p.Gln228*	Somatic	0	28	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Nonsense_Mutation	SNP							pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q228*	ENST00000356840.3	37	c.682	CCDS4536.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.700340	0.98920	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.46	4.58	0.56647	.	0.049350	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1664	0.81759	0.0:0.8663:0.1337:0.0	.	.	.	.	X	228;47	.	ENSP00000008686:Q47X	Q	+	1	0	MYLIP	16251928	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.470000	0.80973	1.267000	0.44247	-0.282000	0.10007	CAG	-	pfscan_FERM_domain		0.473	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	protein_coding	OTTHUMT00000043864.1	C	NM_013262	-		16143949	1	no_errors	ENST00000356840	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	16143949	C	T	16143949	4	4	106	1	0	0	0	0	0	1	0	0	10057	711	25	2	700	2	MYLIP	6	16143949	Nonsense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09		16143949	154971118	49	6943											
ATXN1	6310	genome.wustl.edu	37	chr6	16327956	16327956	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgctgctgctgctgctgctCagccttgtgtcccggcgtct	12	15	2	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:16327956C>G	ENST00000244769.4	-	8	1522	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.E196Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	196					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				tgctgctgctCAGCCTTGTGT	0.652																																																	0								ENSG00000124788						12	14	13					6																	16327956		2090	4139	6229	ATXN1	SO:0001583	missense	0			-	HGNC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.586G>C	6.37:g.16327956C>G	ENSP00000244769:p.Glu196Gln	Somatic	0	37	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	14.81	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP							pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E196Q	ENST00000244769.4	37	c.586	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234922	0.79800	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.31510	1.49;1.49	5.14	5.14	0.70334	.	0.170141	0.39475	N	0.001358	T	0.45357	0.1338	M	0.63843	1.955	0.46356	D	0.999004	D	0.69078	0.997	D	0.75484	0.986	T	0.38564	-0.9655	10	0.51188	T	0.08	-29.1264	16.789	0.85582	0.0:1.0:0.0:0.0	.	196	P54253	ATX1_HUMAN	Q	196	ENSP00000244769:E196Q;ENSP00000416360:E196Q	ENSP00000244769:E196Q	E	-	1	0	ATXN1	16435935	1.000000	0.71417	0.994000	0.49952	0.773000	0.43773	5.230000	0.65321	2.390000	0.81377	0.467000	0.42956	GAG	-	NULL		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	protein_coding	OTTHUMT00000039943.3	C	NM_000332	-		16327956	-1	no_errors	ENST00000244769	ensembl	human	known	74_37	missense	SNP	1.000	G	G	16327956	C	G	16327956	3	3	106	1	0	0	0	0	1	0	0	0	1209	835	29	4	1869	4	ATXN1	6	16327956	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	184007	16327956	154787111	50	6944											
OR2J3	442186	genome.wustl.edu	37	chr6	29080202	29080202	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggacaccgccaagtagatCactttttctgtgaagttcca	9	10	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:29080202C>A	ENST00000377169.1	+	1	535	c.535C>A	c.(535-537)Cac>Aac	p.H179N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCAAGTAGATCACTTTTTCTG	0.473																																																	0								ENSG00000204701						117	126	123					6																	29080202		1289	2578	3867	OR2J3	SO:0001583	missense	0			-	HGNC		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.535C>A	6.37:g.29080202C>A	ENSP00000366374:p.His179Asn	Somatic	0	65	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H179N	ENST00000377169.1	37	c.535	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747240	0.15710	.	.	ENSG00000204701	ENST00000377169	T	0.00164	8.64	2.78	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38436	-0.9661	9	0.41790	T	0.15	.	6.1697	0.20410	0.1869:0.6963:0.0:0.1168	.	179	O76001	OR2J3_HUMAN	N	179	ENSP00000366374:H179N	ENSP00000366374:H179N	H	+	1	0	OR2J3	29188181	0.022000	0.18835	0.991000	0.47740	0.278000	0.26855	0.154000	0.16343	1.549000	0.49425	0.436000	0.28706	CAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	protein_coding	OTTHUMT00000076132.2	C		-		29080202	1	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	SNP	0.024	A	A	29080202	C	A	29080202	3	1	106	1	0	0	0	0	1	0	0	0	11006	826	29	3	537	3	OR2J3	6	29080202	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	12752246	29080202	142034865	51	6945											
OR12D2	26529	genome.wustl.edu	37	chr6	29365079	29365079	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctactcagtactgtcacGgggacaattgccatgggccc	12	12	2	0	rs201460005	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:29365079G>T	ENST00000383555.2	+	1	664	c.603G>T	c.(601-603)acG>acT	p.T201T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GTACTGTCACGGGGACAATTG	0.448																																																	0								ENSG00000168787						156	160	158					6																	29365079		1511	2709	4220	OR12D2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.603G>T	6.37:g.29365079G>T		Somatic	0	23	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	B0S862|Q5SUN9|Q6IET9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T201	ENST00000383555.2	37	c.603	CCDS4659.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	protein_coding	OTTHUMT00000076054.2	G		-		29365079	1	no_errors	ENST00000383555	ensembl	human	known	74_37	silent	SNP	0.000	T	T	29365079	G	T	29365079	2	4	106	1	0	0	0	0	0	0	0	1	10933	1103	39	3		3	OR12D2	6	29365079	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	284877	29365079	141749988	52	6946											
WDR46	9277	genome.wustl.edu	37	chr6	33248658	33248658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccctctgggagaaggCcaggtgccctgctccatggg	14	14	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:33248658C>T	ENST00000374617.4	-	11	1578	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	408							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGGGAGAAGGCCAGGTGCCCT	0.637																																																	0								ENSG00000227057						70	74	72					6																	33248658		2203	4300	6503	WDR46	SO:0001583	missense	0			-	HGNC	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1222G>A	6.37:g.33248658C>T	ENSP00000363746:p.Ala408Thr	Somatic	0	26	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP							pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A408T	ENST00000374617.4	37	c.1222	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754294	0.15778	.	.	ENSG00000227057	ENST00000374617	T	0.01464	4.86	5.39	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.227314	0.45867	N	0.000324	T	0.00637	0.0021	L	0.39397	1.21	0.35964	D	0.83483	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.47699	-0.9097	10	0.15499	T	0.54	-12.0178	7.1188	0.25431	0.1686:0.7455:0.0:0.0859	.	354;408	B4DP15;O15213	.;WDR46_HUMAN	T	408	ENSP00000363746:A408T	ENSP00000363746:A408T	A	-	1	0	WDR46	33356636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.517000	0.35867	1.486000	0.48398	0.549000	0.68633	GCC	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.637	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	protein_coding	OTTHUMT00000076382.2	C	NM_005452	-		33248658	-1	no_errors	ENST00000374617	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33248658	C	T	33248658	3	4	106	1	0	0	0	0	1	0	0	0	17306	739	26	2	630	2	WDR46	6	33248658	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	3883579	33248658	137866409	53	6947											
IP6K3	117283	genome.wustl.edu	37	chr6	33703226	33703226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcctgccctcatgtcccCggcgtctgcgctgttttgca	10	17	2	0	rs141301327		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:33703226C>T	ENST00000293756.4	-	2	354	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	IP6K3_ENST00000451316.1_Missense_Mutation_p.G10R	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	10					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CTCATGTCCCCGGCGTCTGCG	0.612																																																	0								ENSG00000161896	C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	52	39	44		28,28	2.2	0	6	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	IP6K3	NM_001142883.1,NM_054111.4	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	10/411,10/411	33703226	1,13005	2203	4300	6503	IP6K3	SO:0001583	missense	0			-	HGNC	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.28G>A	6.37:g.33703226C>T	ENSP00000293756:p.Gly10Arg	Somatic	0	44	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	16	69.23	Q96MQ9	Missense_Mutation	SNP							pfam_IPK	p.G10R	ENST00000293756.4	37	c.28	CCDS34435.1	6	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381202	0.61845	2.27E-4	0.0	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.18016	2.24;2.24	4.99	2.24	0.28232	.	0.758537	0.12042	N	0.504904	T	0.13243	0.0321	L	0.47716	1.5	0.23331	N	0.997892	D	0.89917	1.0	D	0.66979	0.948	T	0.16928	-1.0386	10	0.15499	T	0.54	-16.1663	9.4209	0.38550	0.0:0.7658:0.0:0.2342	.	10	Q96PC2	IP6K3_HUMAN	R	10	ENSP00000398861:G10R;ENSP00000293756:G10R	ENSP00000293756:G10R	G	-	1	0	IP6K3	33811204	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.406000	0.07187	0.159000	0.19401	-0.339000	0.08088	GGG	-	NULL		0.612	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	protein_coding	OTTHUMT00000040203.1	C	NM_054111	rs141301327		33703226	-1	no_errors	ENST00000293756	ensembl	human	known	74_37	missense	SNP	0.440	T	T	33703226	C	T	33703226	3	4	106	1	0	0	0	0	1	0	0	0	7792	652	23	1	1224	1	IP6K3	6	33703226	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	454568	33703226	137411841	54	6948											
GLP1R	2740	genome.wustl.edu	37	chr6	39040728	39040728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatcaaggacgcagcCctgaagtggatgtatagcac	11	10	3	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:39040728C>T	ENST00000373256.4	+	6	643	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	200					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGGACGCAGCCCTGAAGTGGA	0.582																																																	0								ENSG00000112164						178	141	153					6																	39040728		2203	4300	6503	GLP1R	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.600C>T	6.37:g.39040728C>T		Somatic	0	53	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	Q2M229|Q99669	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.A200	ENST00000373256.4	37	c.600	CCDS4839.1	6																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.582	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	protein_coding	OTTHUMT00000040443.1	C		-		39040728	1	no_errors	ENST00000373256	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39040728	C	T	39040728	2	4	106	1	0	0	0	0	0	0	0	1	6454	610	22	2		2	GLP1R	6	39040728	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	5337502	39040728	132074339	55	6949											
MEP1A	4224	genome.wustl.edu	37	chr6	46806867	46806867	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctttcccaaaggccaagGaagtgacctgcctgctggca	10	13	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:46806867G>A	ENST00000230588.4	+	14	2244	c.2235G>A	c.(2233-2235)agG>agA	p.R745R		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	745					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAAGGCCAAGGAAGTGACCTG	0.557																																																	0								ENSG00000112818						64	51	56					6																	46806867		2203	4296	6499	MEP1A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2235G>A	6.37:g.46806867G>A		Somatic	0	52	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP							pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.R745	ENST00000230588.4	37	c.2235	CCDS4918.1	6																																																																																			-	pirsf_Pept_M12A_Meprin		0.557	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	protein_coding	OTTHUMT00000040803.1	G	NM_005588	-		46806867	1	no_errors	ENST00000230588	ensembl	human	known	74_37	silent	SNP	0.291	A	A	46806867	G	A	46806867	2	1	106	1	0	0	0	0	0	0	0	1	9477	1165	41	2		2	MEP1A	6	46806867	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	7766139	46806867	124308200	56	6950											
PKHD1	5314	genome.wustl.edu	37	chr6	51612752	51612752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcaagttggctgagtgcGgcttcactttgtcctgaatg	12	8	2	2	rs145141656	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:51612752G>A	ENST00000371117.3	-	58	9937	c.9662C>T	c.(9661-9663)cCg>cTg	p.P3221L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P3221L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3221					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)					GGCTGAGTGCGGCTTCACTTT	0.463													G|||	3	0.000599042	0	0	5008	,	,		18978	0.002		0	False		,,,				2504	0.001																0								ENSG00000170927	G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	111	110	111		9662,9662	5.8	0.5	6	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	3221/4075,3221/3397	51612752	1,13005	2203	4300	6503	PKHD1	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.9662C>T	6.37:g.51612752G>A	ENSP00000360158:p.Pro3221Leu	Somatic	0	43	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.P3221L	ENST00000371117.3	37	c.9662	CCDS4935.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.17	3.565219	0.65651	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88354	-2.19;-2.37	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	M	0.72118	2.19	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.977;0.999	D;P;D	0.71414	0.973;0.787;0.947	D	0.91950	0.5570	10	0.45353	T	0.12	.	18.9315	0.92568	0.0:0.0:1.0:0.0	.	3221;3221;3221	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3221	ENSP00000360158:P3221L;ENSP00000341097:P3221L	ENSP00000341097:P3221L	P	-	2	0	PKHD1	51720711	1.000000	0.71417	0.485000	0.27403	0.621000	0.37620	6.432000	0.73400	2.716000	0.92895	0.655000	0.94253	CCG	-	NULL		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	rs145141656		51612752	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	0.988	A	A	51612752	G	A	51612752	3	1	106	1	0	0	0	0	1	0	0	0	11973	1116	39	1	2641	1	PKHD1	6	51612752	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	4805885	51612752	119502315	57	6951											
IL20RA	53832	genome.wustl.edu	37	chr6	137323068	137323068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgactccaataatGttccttgtgtggacacctcc	8	14	0	0	rs377051637		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:137323068G>T	ENST00000316649.5	-	7	1524	c.1289C>A	c.(1288-1290)aCa>aAa	p.T430K	IL20RA_ENST00000541547.1_Missense_Mutation_p.T381K|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000367748.1_Missense_Mutation_p.T319K	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	430					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTCCAATAATGTTCCTTGTGT	0.527																																																	0								ENSG00000016402						71	59	63					6																	137323068		2203	4300	6503	IL20RA	SO:0001583	missense	0			-	HGNC	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1289C>A	6.37:g.137323068G>T	ENSP00000314976:p.Thr430Lys	Somatic	0	49	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP							pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.T430K	ENST00000316649.5	37	c.1289	CCDS5181.1	6	.	.	.	.	.	.	.	.	.	.	G	2.094	-0.407652	0.04832	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.58358	0.61;2.05;0.34	5.96	-7.76	0.01232	.	4.960380	0.00166	N	0.000019	T	0.03220	0.0094	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05419	-1.0886	10	0.02654	T	1	2.2846	2.0444	0.03557	0.1925:0.1846:0.4027:0.2202	.	319;430	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	K	430;319;381	ENSP00000314976:T430K;ENSP00000356722:T319K;ENSP00000437843:T381K	ENSP00000314976:T430K	T	-	2	0	IL20RA	137364761	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.841000	0.04359	-1.708000	0.01401	-0.839000	0.03059	ACA	-	NULL		0.527	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RA	protein_coding	OTTHUMT00000042393.1	G	NM_014432	-		137323068	-1	no_errors	ENST00000316649	ensembl	human	known	74_37	missense	SNP	0.000	T	T	137323068	G	T	137323068	3	4	106	1	0	0	0	0	1	0	0	0	7670	1377	48	3	376	3	IL20RA	6	137323068	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	85710316	137323068	33791999	58	6952											
SYNE1	23345	genome.wustl.edu	37	chr6	152763261	152763261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctccaggccatccagtgtGctctccagcttccgcagctc	9	18	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:152763261G>T	ENST00000367255.5	-	31	4558	c.3957C>A	c.(3955-3957)agC>agA	p.S1319R	SYNE1_ENST00000423061.1_Missense_Mutation_p.S1326R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1326R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1319R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1319R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1309R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1385R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1319R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1319					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)		CATCCAGTGTGCTCTCCAGCT	0.637										HNSCC(10;0.0054)																																							0								ENSG00000131018						73	71	72					6																	152763261		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.3957C>A	6.37:g.152763261G>T	ENSP00000356224:p.Ser1319Arg	Somatic	0	25	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1319R	ENST00000367255.5	37	c.3957	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400882	0.25291	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87966	0.66;0.66;0.56;0.66;0.75;-2.25;-2.32;-2.32	5.19	0.726	0.18248	.	0.320832	0.27917	N	0.017338	T	0.60274	0.2256	L	0.40543	1.245	0.58432	D	0.999999	B;B;B;B;B;B	0.11235	0.0;0.0;0.001;0.004;0.0;0.001	B;B;B;B;B;B	0.11329	0.001;0.002;0.006;0.004;0.002;0.004	T	0.52487	-0.8569	10	0.25751	T	0.34	.	0.2626	0.00220	0.3276:0.1332:0.2335:0.3056	.	1302;1319;1309;1319;1319;1326	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	R	1319;1326;1319;1326;1385;1319;1309;1319	ENSP00000356224:S1319R;ENSP00000396024:S1326R;ENSP00000265368:S1319R;ENSP00000390975:S1326R;ENSP00000341887:S1385R;ENSP00000356222:S1319R;ENSP00000356217:S1309R;ENSP00000414510:S1319R	ENSP00000265368:S1319R	S	-	3	2	SYNE1	152804954	0.992000	0.36948	0.980000	0.43619	0.439000	0.31926	0.623000	0.24447	0.273000	0.22049	-0.143000	0.13931	AGC	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.637	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152763261	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.774	T	T	152763261	G	T	152763261	3	4	106	1	0	0	0	0	1	0	0	0	15452	1310	46	3	22973	3	SYNE1	6	152763261	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	15440193	152763261	18351806	59	6953											
MAP3K4	4216	genome.wustl.edu	37	chr6	161530923	161530923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtcctccatgagcatgGcatagtccaccgtgacatta	8	13	0	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr6:161530923G>A	ENST00000392142.4	+	23	4521	c.4373G>A	c.(4372-4374)gGc>gAc	p.G1458D	MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1454D|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1404D|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1408D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1458	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATGAGCATGGCATAGTCCAC	0.547																																																	0								ENSG00000085511						169	138	149					6																	161530923		2203	4300	6503	MAP3K4	SO:0001583	missense	0			-	HGNC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4373G>A	6.37:g.161530923G>A	ENSP00000375986:p.Gly1458Asp	Somatic	0	35	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1458D	ENST00000392142.4	37	c.4373	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.103618	0.94245	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.02	5.02	0.67125	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	0.41419	0.1158	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;1.0	T	0.11348	-1.0591	10	0.33940	T	0.23	-30.4667	16.5144	0.84295	0.0:0.0:1.0:0.0	.	1454;394;1408;1458	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	D	1408;1458;1408;1454;1404	ENSP00000355886:G1408D;ENSP00000375986:G1458D;ENSP00000355887:G1454D;ENSP00000297332:G1404D	ENSP00000297332:G1404D	G	+	2	0	MAP3K4	161450913	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.787000	0.99055	2.324000	0.78689	0.655000	0.94253	GGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.547	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	protein_coding	OTTHUMT00000042988.3	G		-		161530923	1	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	161530923	G	A	161530923	3	1	106	1	0	0	0	0	1	0	0	0	9254	1203	42	2	4463	2	MAP3K4	6	161530923	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	8767662	161530923	9584144	60	6954											
MRPL32	64983	genome.wustl.edu	37	chr7	42976985	42976985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatgtcctttgtgcctactGctatgaaaaggtgtgcaagg	11	8	0	1	rs148841197		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:42976985G>T	ENST00000223324.2	+	3	564	c.377G>T	c.(376-378)tGc>tTc	p.C126F	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	126					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TGTGCCTACTGCTATGAAAAG	0.428																																																	0								ENSG00000106591						123	112	116					7																	42976985		2203	4300	6503	MRPL32	SO:0001583	missense	0			-	HGNC	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.377G>T	7.37:g.42976985G>T	ENSP00000223324:p.Cys126Phe	Somatic	0	46	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q96Q68|Q9P098	Missense_Mutation	SNP							pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd	p.C126F	ENST00000223324.2	37	c.377	CCDS5468.1	7	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702371	0.88924	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.9	5.9	0.94986	.	0.039648	0.85682	D	0.000000	D	0.90390	0.6992	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92749	0.6214	9	0.87932	D	0	-18.3407	20.2789	0.98501	0.0:0.0:1.0:0.0	.	126	Q9BYC8	RM32_HUMAN	F	126	.	ENSP00000223324:C126F	C	+	2	0	MRPL32	42943510	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.071000	0.93980	2.788000	0.95919	0.650000	0.86243	TGC	-	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd		0.428	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL32	protein_coding	OTTHUMT00000338669.1	G	NM_031903	-		42976985	1	no_errors	ENST00000223324	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42976985	G	T	42976985	3	4	106	1	0	0	0	0	1	0	0	0	9797	1319	46	3	387	3	MRPL32	7	42976985	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		42976985	116161678	61	6955											
CAMK2B	816	genome.wustl.edu	37	chr7	44294196	44294196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcttcaaagagctcccCaccagtgaccctatgggaga	9	12	2	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:44294196C>A	ENST00000395749.2	-	5	362	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	CAMK2B_ENST00000457475.1_Missense_Mutation_p.G96W|CAMK2B_ENST00000358707.3_Missense_Mutation_p.G96W|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G96W|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G96W|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G96W|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G96W|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Missense_Mutation_p.G96W|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G96W|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G96W	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AAGAGCTCCCCACCAGTGACC	0.552																																																	0								ENSG00000058404						137	119	125					7																	44294196		2203	4300	6503	CAMK2B	SO:0001583	missense	0			-	HGNC	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.286G>T	7.37:g.44294196C>A	ENSP00000379098:p.Gly96Trp	Somatic	0	47	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G96W	ENST00000395749.2	37	c.286	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001188	0.74818	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747;ENST00000415369;ENST00000424197;ENST00000421607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	3.6	3.6	0.41247	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	0.76278	0.3965	H	0.97783	4.075	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.993;0.999;0.998;0.953;0.999;0.999;1.0;0.997	D	0.85776	0.1358	9	0.87932	D	0	.	14.0541	0.64756	0.0:1.0:0.0:0.0	.	96;96;96;96;96;96;96;96;96	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;.;.;.;KCC2B_HUMAN;.	W	96;96;96;96;96;96;96;96;96;96;112;96;96	ENSP00000326375:G96W;ENSP00000390292:G96W;ENSP00000379098:G96W;ENSP00000397937:G96W;ENSP00000351542:G96W;ENSP00000326427:G96W;ENSP00000326544:G96W;ENSP00000326518:G96W;ENSP00000258682:G96W;ENSP00000379096:G96W;ENSP00000390419:G112W;ENSP00000400387:G96W;ENSP00000388445:G96W	ENSP00000258682:G96W	G	-	1	0	CAMK2B	44260721	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.683000	0.74533	1.572000	0.49736	0.465000	0.42564	GGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	protein_coding	OTTHUMT00000251138.2	C	NM_172084	-		44294196	-1	no_errors	ENST00000395749	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44294196	C	A	44294196	3	1	106	1	0	0	0	0	1	0	0	0	2602	594	21	3	1793	3	CAMK2B	7	44294196	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	1317211	44294196	114844467	62	6956											
ABCA13	154664	genome.wustl.edu	37	chr7	48312039	48312039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtctacgctatcaggaatGcatctgatcttttctcagcc	7	12	5	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:48312039G>T	ENST00000435803.1	+	17	2800	c.2776G>T	c.(2776-2778)Gca>Tca	p.A926S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	926					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A926T(1)|p.A871T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCAGGAATGCATCTGATCT	0.393																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000179869						64	60	61					7																	48312039		1860	4102	5962	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2776G>T	7.37:g.48312039G>T	ENSP00000411096:p.Ala926Ser	Somatic	0	41	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A926S	ENST00000435803.1	37	c.2776	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	7.161	0.585696	0.13749	.	.	ENSG00000179869	ENST00000435803	D	0.86297	-2.1	5.57	-0.489	0.12052	.	1.445340	0.04423	N	0.367855	T	0.81250	0.4783	L	0.54323	1.7	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.67632	-0.5621	10	0.87932	D	0	.	1.7224	0.02915	0.3492:0.131:0.3867:0.1331	.	926	Q86UQ4	ABCAD_HUMAN	S	926	ENSP00000411096:A926S	ENSP00000411096:A926S	A	+	1	0	ABCA13	48282585	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.674000	0.05233	-0.050000	0.13356	0.655000	0.94253	GCA	-	NULL		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48312039	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.000	T	T	48312039	G	T	48312039	3	4	106	1	0	0	0	0	1	0	0	0	31	1319	46	3	2671	3	ABCA13	7	48312039	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	4017843	48312039	110826624	63	6957											
ADAM22	53616	genome.wustl.edu	37	chr7	87774475	87774475	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtggcaatggcttcatTgaaactggagaggagtgtga	16	4	1	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:87774475T>A	ENST00000265727.7	+	16	1435	c.1356T>A	c.(1354-1356)atT>atA	p.I452I	ADAM22_ENST00000398209.3_Silent_p.I452I|ADAM22_ENST00000398204.4_Silent_p.I452I|ADAM22_ENST00000315984.7_Silent_p.I452I|ADAM22_ENST00000398201.4_Silent_p.I452I			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	452	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGCTTCATTGAAACTGGAG	0.423																																																	0								ENSG00000008277						136	129	131					7																	87774475		1855	4095	5950	ADAM22	SO:0001819	synonymous_variant	0			-	HGNC	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1356T>A	7.37:g.87774475T>A		Somatic	0	69	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	83	17.82	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.I452	ENST00000265727.7	37	c.1356	CCDS47637.1	7																																																																																			-	pfscan_Blood-coag_inhib_Disintegrin		0.423	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	protein_coding	OTTHUMT00000268370.2	T	NM_021723	-		87774475	1	no_errors	ENST00000265727	ensembl	human	known	74_37	silent	SNP	1.000	A	A	87774475	T	A	87774475	2	1	106	1	0	0	0	0	0	0	0	1	244	1800	63	5		5	ADAM22	7	87774475	Silent	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	39462436	87774475	71364188	64	6958											
CYP3A4	1576	genome.wustl.edu	37	chr7	99355784	99355784	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacttacggtgccatcccttGactcaacctttagaacaacg	6	14	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:99355784G>T	ENST00000336411.2	-	13	1667	c.1484C>A	c.(1483-1485)tCa>tAa	p.S495*	CYP3A4_ENST00000354593.2_Nonsense_Mutation_p.S345*	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	495					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GCCATCCCTTGACTCAACCTT	0.428																																																	0								ENSG00000160868						101	95	97					7																	99355784		2203	4300	6503	CYP3A4	SO:0001587	stop_gained	0			-	HGNC	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1484C>A	7.37:g.99355784G>T	ENSP00000337915:p.Ser495*	Somatic	0	39	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	P05184|Q16757|Q9UK50	Nonsense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.S495*	ENST00000336411.2	37	c.1484	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360120	0.41801	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	.	.	.	4.76	-1.72	0.08107	.	0.800601	0.11881	N	0.520531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	6.6159	0.22776	0.3836:0.1195:0.4969:0.0	.	.	.	.	X	345;495	.	ENSP00000337915:S495X	S	-	2	0	CYP3A4	99193720	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.078000	0.14761	-0.309000	0.08779	-0.229000	0.12294	TCA	-	superfamily_Cyt_P450		0.428	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	protein_coding	OTTHUMT00000345059.1	G		-		99355784	-1	no_errors	ENST00000336411	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	99355784	G	T	99355784	4	4	106	1	0	0	0	0	0	1	0	0	4180	1294	45	3	31	3	CYP3A4	7	99355784	Nonsense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	11581309	99355784	59782879	65	6959											
MUC17	140453	genome.wustl.edu	37	chr7	100679631	100679631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacgccggtggccaGtcctgaggctagcacccttt	11	16	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:100679631G>T	ENST00000306151.4	+	3	4998	c.4934G>T	c.(4933-4935)aGt>aTt	p.S1645I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	59 X approximate tandem repeats.|Ser-rich.				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)					CCGGTGGCCAGTCCTGAGGCT	0.493																																																	0								ENSG00000169876						236	246	243					7																	100679631		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.4934G>T	7.37:g.100679631G>T	ENSP00000302716:p.Ser1645Ile	Somatic	0	81	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S1645I	ENST00000306151.4	37	c.4934	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.583	-0.836417	0.02692	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.34180	0.177	T	0.49399	-0.8944	9	0.32370	T	0.25	.	6.4998	0.22162	0.0:0.4172:0.5828:0.0	.	1645	Q685J3	MUC17_HUMAN	I	1645	ENSP00000302716:S1645I	ENSP00000302716:S1645I	S	+	2	0	MUC17	100466351	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.769000	0.01792	-0.958000	0.03622	0.134000	0.15878	AGT	-	NULL		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105	-		100679631	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	T	T	100679631	G	T	100679631	3	4	106	1	0	0	0	0	1	0	0	0	9976	1029	36	3	4944	3	MUC17	7	100679631	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	1323847	100679631	58459032	66	6960											
SRPK2	6733	genome.wustl.edu	37	chr7	104844171	104844171	+	Missense_Mutation	SNP	G	G	T													ggggtctggcaaaggtggcgGtggtggtggtggtggcggtg							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:104844171G>T	ENST00000393651.3	-	3	220	c.133C>A	c.(133-135)Ccg>Acg	p.P45T	SRPK2_ENST00000357311.3_Missense_Mutation_p.P34T|SRPK2_ENST00000489828.1_Missense_Mutation_p.P34T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AAAggtggcggtggtggtggt	0.557																																																	0								ENSG00000135250						47	42	44					7																	104844171		2203	4300	6503	SRPK2	SO:0001583	missense	0			-	HGNC	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.133C>A	7.37:g.104844171G>T	ENSP00000377262:p.Pro45Thr	Somatic	0	43	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P45T	ENST00000393651.3	37	c.133	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919005	0.52546	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	D;D;D;T;T	0.86865	-2.18;-2.18;-2.18;0.76;0.76	6.04	6.04	0.98038	.	0.142511	0.45361	D	0.000373	D	0.89054	0.6606	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	D	0.85244	0.1040	10	0.18276	T	0.48	-11.3591	18.3674	0.90396	0.0:0.0:1.0:0.0	.	45;34	P78362-2;P78362	.;SRPK2_HUMAN	T	45;34;34;82;34	ENSP00000377262:P45T;ENSP00000349863:P34T;ENSP00000419791:P34T;ENSP00000419240:P82T;ENSP00000417357:P34T	ENSP00000349863:P34T	P	-	1	0	SRPK2	104631407	1.000000	0.71417	0.747000	0.31113	0.590000	0.36582	9.036000	0.93758	2.873000	0.98535	0.561000	0.74099	CCG	-	NULL		0.557	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	protein_coding	OTTHUMT00000348723.1	G	NM_182691	-		104844171	-1	no_errors	ENST00000393651	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104844171	G	T	104844171	3	4	106	1	0	0	0	0	1	0	0	0	15167	1261	44	3	2022	3	SRPK2	7	104844171	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	4164540	104844171	54294492	67	6961	103	2									
SRPK2	6733	genome.wustl.edu	37	chr7	104844172	104844172	+	Silent	SNP	T	T	A													gggtctggcaaaggtggcggTggtggtggtggtggcggtgg							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:104844172T>A	ENST00000393651.3	-	3	219	c.132A>T	c.(130-132)ccA>ccT	p.P44P	SRPK2_ENST00000357311.3_Silent_p.P33P|SRPK2_ENST00000489828.1_Silent_p.P33P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AAggtggcggtggtggtggtg	0.557																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000135250						47	42	43					7																	104844172		2203	4300	6503	SRPK2	SO:0001819	synonymous_variant	0			-	HGNC	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132A>T	7.37:g.104844172T>A		Somatic	0	43	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	32.79		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P44	ENST00000393651.3	37	c.132	CCDS34724.1	7																																																																																			-	NULL		0.557	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	protein_coding	OTTHUMT00000348723.1	T	NM_182691	-		104844172	-1	no_errors	ENST00000393651	ensembl	human	known	74_37	silent	SNP	0.570	A	A	104844172	T	A	104844172	2	1	106	1	0	0	0	0	0	0	0	1	15167	1683	59	5		5	SRPK2	7	104844172	Silent	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	1	104844172	54294491	68	6962	103	2									
GPR37	2861	genome.wustl.edu	37	chr7	124386687	124386687	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtcattgtcatcactggtCaccgttgaagacttctgaat	8	9	5	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:124386687C>A	ENST00000303921.2	-	2	2384	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	578					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCACTGGTCACCGTTGAAG	0.512																																																	0								ENSG00000170775						164	137	146					7																	124386687		2203	4300	6503	GPR37	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1734G>T	7.37:g.124386687C>A		Somatic	0	54	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.V578	ENST00000303921.2	37	c.1734	CCDS5792.1	7																																																																																			-	NULL		0.512	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	protein_coding	OTTHUMT00000347873.1	C	NM_005302	-		124386687	-1	no_errors	ENST00000303921	ensembl	human	known	74_37	silent	SNP	0.999	A	A	124386687	C	A	124386687	2	1	106	1	0	0	0	0	0	0	0	1	6693	813	29	3		3	GPR37	7	124386687	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	19542515	124386687	34751976	69	6963											
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138432198	138432198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcttctgggagagcaagCgtctctcattcagaatcatc	9	11	6	2	rs531117418		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:138432198C>T	ENST00000310018.2	-	13	1574	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R431H|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R431H	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	431					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGAGAGCAAGCGTCTCTCATT	0.458																																																	0								ENSG00000105929						113	97	102					7																	138432198		2203	4300	6503	ATP6V0A4	SO:0001583	missense	0			-	HGNC	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1292G>A	7.37:g.138432198C>T	ENSP00000308122:p.Arg431His	Somatic	0	46	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	48	35.14	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP							pfam_V-ATPase_116kDa_su	p.R431H	ENST00000310018.2	37	c.1292	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253671	0.22965	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86030	-2.06;-2.06;-2.06	5.19	-8.27	0.01017	.	2.005500	0.01781	N	0.031736	T	0.66790	0.2825	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.59306	-0.7479	10	0.28530	T	0.3	0.4024	10.3664	0.44026	0.0:0.1683:0.2712:0.5604	.	431	Q9HBG4	VPP4_HUMAN	H	431	ENSP00000308122:R431H;ENSP00000376774:R431H;ENSP00000253856:R431H	ENSP00000308122:R431H	R	-	2	0	ATP6V0A4	138082738	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.230000	0.02942	-1.923000	0.01065	-1.036000	0.02392	CGC	-	pfam_V-ATPase_116kDa_su		0.458	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	protein_coding	OTTHUMT00000347514.1	C	NM_020632	-		138432198	-1	no_errors	ENST00000310018	ensembl	human	known	74_37	missense	SNP	0.000	T	T	138432198	C	T	138432198	3	4	106	1	0	0	0	0	1	0	0	0	1170	768	27	1	1270	1	ATP6V0A4	7	138432198	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	14045511	138432198	20706465	70	6964											
SSPO	23145	genome.wustl.edu	37	chr7	149489488	149489488	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgctactggcctgggCaacgcatcaaggccgactgc	13	15	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:149489488C>A	ENST00000378016.2	+	0	5641							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCCTGGGCAACGCATCAA	0.706																																																	0								ENSG00000197558						14	21	19					7																	149489488		2134	4222	6356	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489488C>A		Somatic	0	98	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	63	22.22	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.706	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C		-		149489488	1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	1.000	A	A	149489488	C	A	149489488	1	1	106	0	1	0	0	0	0	0	0	0	15196	711	25	3		3	SSPO	7	149489488	RNA	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	11057290	149489488	9649175	71	6965											
DPP6	1804	genome.wustl.edu	37	chr7	153584779	153584779	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcaaaatgaaggaaaAggccatgatcaagaccgcta	12	7	1	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr7:153584779A>T	ENST00000404039.1	+	1	598	c.11A>T	c.(10-12)aAg>aTg	p.K4M		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGAAGGAAAAGGCCATGATC	0.567																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						62	60	60					7																	153584779		1568	3582	5150	DPP6	SO:0001583	missense	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.11A>T	7.37:g.153584779A>T	ENSP00000385578:p.Lys4Met	Somatic	0	80	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43		Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.K4M	ENST00000404039.1	37	c.11		7	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044218	0.75732	.	.	ENSG00000130226	ENST00000404039	T	0.15017	2.46	4.93	4.93	0.64822	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.13282	-1.0515	8	0.49607	T	0.09	.	10.9917	0.47553	1.0:0.0:0.0:0.0	.	4	E9PF59	.	M	4	ENSP00000385578:K4M	ENSP00000385578:K4M	K	+	2	0	DPP6	153215712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.432000	0.59922	1.848000	0.53677	0.455000	0.32223	AAG	-	NULL		0.567	DPP6-001	PUTATIVE	basic	protein_coding	DPP6	protein_coding	OTTHUMT00000322930.1	A	NM_130797	-		153584779	1	no_errors	ENST00000404039	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	153584779	A	T	153584779	3	4	106	1	0	0	0	0	1	0	0	0	4732	72	3	5	13	5	DPP6	7	153584779	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	4095291	153584779	5553884	72	6966											
SGK223	157285	genome.wustl.edu	37	chr8	8185770	8185770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaggttcagcttggggcttGctgttccgggcttgggggag	18	7	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:8185770G>T	ENST00000520004.1	-	5	2786	c.2522C>A	c.(2521-2523)gCa>gAa	p.A841E	SGK223_ENST00000330777.4_Missense_Mutation_p.A841E			Q86YV5	SG223_HUMAN		843							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTTGGGGCTTGCTGTTCCGGG	0.592																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						127	139	135					8																	8185770		1980	4143	6123	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.2522C>A	8.37:g.8185770G>T	ENSP00000428054:p.Ala841Glu	Somatic	0	61	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q8N3N5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.A841E	ENST00000520004.1	37	c.2522	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785526	0.49997	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.63744	-0.06;-0.06	4.97	4.97	0.65823	.	0.716493	0.12721	N	0.444688	T	0.75384	0.3842	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	P	0.59115	0.852	T	0.67968	-0.5533	10	0.72032	D	0.01	.	17.7673	0.88482	0.0:0.0:1.0:0.0	.	841	Q86YV5	SG223_HUMAN	E	841	ENSP00000330930:A841E;ENSP00000428054:A841E	ENSP00000330930:A841E	A	-	2	0	AC068353.1	8223180	0.434000	0.25570	0.026000	0.17262	0.279000	0.26890	3.614000	0.54160	2.751000	0.94390	0.563000	0.77884	GCA	-	NULL		0.592	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	G		-		8185770	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.038	T	T	8185770	G	T	8185770	3	4	106	1	0	0	0	0	1	0	0	0	14218	1319	46	3	1694	3	SGK223	8	8185770	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		8185770	138178252	73	6967											
SGK223	157285	genome.wustl.edu	37	chr8	8235474	8235474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcgagaattgccatcagGggaggtagagggaccagcag	16	8	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:8235474G>T	ENST00000520004.1	-	3	709	c.445C>A	c.(445-447)Cct>Act	p.P149T	SGK223_ENST00000330777.4_Missense_Mutation_p.P149T			Q86YV5	SG223_HUMAN		149							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTGCCATCAGGGGAGGTAGAG	0.637																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						67	72	71					8																	8235474		2008	4181	6189	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.445C>A	8.37:g.8235474G>T	ENSP00000428054:p.Pro149Thr	Somatic	0	70	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	Q8N3N5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.P149T	ENST00000520004.1	37	c.445	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.508495	0.00153	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.54279	0.58;0.58	5.01	-8.33	0.00992	.	1.331090	0.05562	N	0.569376	T	0.18800	0.0451	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	10	0.05721	T	0.95	.	5.5412	0.17039	0.0901:0.1047:0.2077:0.5975	.	149	Q86YV5	SG223_HUMAN	T	149	ENSP00000330930:P149T;ENSP00000428054:P149T	ENSP00000330930:P149T	P	-	1	0	AC068353.1	8272884	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.711000	0.00817	-1.489000	0.01844	-0.211000	0.12701	CCT	-	NULL		0.637	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	G		-		8235474	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.000	T	T	8235474	G	T	8235474	3	4	106	1	0	0	0	0	1	0	0	0	14218	1232	43	3	3779	3	SGK223	8	8235474	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	49704	8235474	138128548	74	6968											
SLCO5A1	81796	genome.wustl.edu	37	chr8	70650332	70650332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtgactcgatgaacttggGaatgaaggtaatgaaagcag	13	5	0	4			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:70650332G>T	ENST00000260126.4	-	5	2072	c.1366C>A	c.(1366-1368)Ccc>Acc	p.P456T	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P456T|SLCO5A1_ENST00000530307.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	456						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)			ATGAACTTGGGAATGAAGGTA	0.448																																																	0								ENSG00000137571						182	158	166					8																	70650332		2203	4300	6503	SLCO5A1	SO:0001583	missense	0			-	HGNC	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.1366C>A	8.37:g.70650332G>T	ENSP00000260126:p.Pro456Thr	Somatic	0	43	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P456T	ENST00000260126.4	37	c.1366	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822687	0.90873	.	.	ENSG00000137571	ENST00000260126;ENST00000524945	T;T	0.65549	-0.16;-0.16	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.81720	-0.0804	10	0.54805	T	0.06	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	456;456	Q9H2Y9;G3V1C0	SO5A1_HUMAN;.	T	456	ENSP00000260126:P456T;ENSP00000434422:P456T	ENSP00000260126:P456T	P	-	1	0	SLCO5A1	70812886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.863000	0.99569	2.736000	0.93811	0.655000	0.94253	CCC	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.448	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	protein_coding	OTTHUMT00000381990.3	G	NM_030958	-		70650332	-1	no_errors	ENST00000260126	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70650332	G	T	70650332	3	4	106	1	0	0	0	0	1	0	0	0	14739	1174	41	3	1204	3	SLCO5A1	8	70650332	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	62414858	70650332	75713690	75	6969											
ZFHX4	79776	genome.wustl.edu	37	chr8	77764838	77764838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaaaatccttggaaccatCcatcccaccaccccgaatag	5	16	0	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:77764838C>T	ENST00000521891.2	+	10	6129	c.5681C>T	c.(5680-5682)tCc>tTc	p.S1894F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1849F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1868F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1849F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1849					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)	p.S1894Y(1)		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)			TTGGAACCATCCATCCCACCA	0.418										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000091656						30	27	28					8																	77764838		1883	4107	5990	ZFHX4	SO:0001583	missense	0			-	HGNC		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.5681C>T	8.37:g.77764838C>T	ENSP00000430497:p.Ser1894Phe	Somatic	0	47	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S1894F	ENST00000521891.2	37	c.5681	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.307965	0.05458	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.67	4.71	0.505	0.16953	.	1.099280	0.07161	U	0.850757	T	0.35393	0.0930	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16603	0.01;0.018;0.018	B;B;B	0.17722	0.009;0.019;0.019	T	0.26224	-1.0109	10	0.09843	T	0.71	.	11.875	0.52541	0.0:0.4077:0.5216:0.0706	.	1849;1849;1894	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1894;1894;1849;1849;1868	ENSP00000430497:S1894F;ENSP00000399605:S1849F;ENSP00000050961:S1849F;ENSP00000430848:S1868F	ENSP00000050961:S1849F	S	+	2	0	ZFHX4	77927393	0.003000	0.15002	0.000000	0.03702	0.990000	0.78478	1.188000	0.32102	-0.009000	0.14296	0.632000	0.83419	TCC	-	NULL		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	C	NM_024721	-		77764838	1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	SNP	0.021	T	T	77764838	C	T	77764838	3	4	106	1	0	0	0	0	1	0	0	0	17642	855	30	2	5715	2	ZFHX4	8	77764838	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	7114506	77764838	68599184	76	6970											
EXT1	2131	genome.wustl.edu	37	chr8	118825198	118825198	+	Frame_Shift_Del	DEL	A	A	-													ggcagaaaacggctgctcatAacctgggaggaagtagaagt							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr8:118825198delA	ENST00000378204.2	-	8	2441	c.1635delT	c.(1633-1635)gttfs	p.V545fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	545	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGCTGCTCATAACCTGGGAGG	0.507			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0								ENSG00000182197						132	104	113					8																	118825198		2203	4300	6503	EXT1	SO:0001589	frameshift_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		HGNC	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1635delT	8.37:g.118825198delA	ENSP00000367446:p.Val545fs	Somatic	0	32	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	B2R7V2|Q9BVI9	Frame_Shift_Del	DEL							pfam_HexNAc_Trfase_a,pfam_Exostosin	p.M546fs	ENST00000378204.2	37	c.1635	CCDS6324.1	8																																																																																			-	pfam_HexNAc_Trfase_a		0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	protein_coding	OTTHUMT00000132768.3	A	NM_000127			118825198	-1	no_errors	ENST00000378204	ensembl	human	known	74_37	frame_shift_del	DEL	0.068	-	-	118825198	A	-	118825198	7	5	106	1	0	1	0	1	0	0	0	0	5325	349	13	0	621	0	EXT1	8	118825198	Frame_Shift_Del	DEL	A	TCGA-DX-A8BT-01A-11D-A37C-09	41060360	118825198	27538824	77	6971											
DOCK8	81704	genome.wustl.edu	37	chr9	421060	421060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggggccagaggggagatgAtgcgccgccgggctccaggt	19	10	0	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:421060A>T	ENST00000453981.1	+	32	4247	c.4135A>T	c.(4135-4137)Atg>Ttg	p.M1379L	DOCK8_ENST00000469391.1_Missense_Mutation_p.M1279L|DOCK8_ENST00000432829.2_Missense_Mutation_p.M1311L|DOCK8_ENST00000382329.1_Missense_Mutation_p.M846L|DOCK8_ENST00000493666.2_3'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1379					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)		AGGGGAGATGATGCGCCGCCG	0.567																																																	0								ENSG00000107099						71	75	74					9																	421060		2203	4300	6503	DOCK8	SO:0001583	missense	0			-	HGNC	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	ENST00000453981.1:c.4135A>T	9.37:g.421060A>T	ENSP00000408464:p.Met1379Leu	Somatic	0	66	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.M1379L	ENST00000453981.1	37	c.4135	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667470	0.47677	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.01665	4.7;4.7;4.7;4.7	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.01870	0.0059	L	0.28556	0.865	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.50591	-0.8810	10	0.07644	T	0.81	.	16.087	0.81065	1.0:0.0:0.0:0.0	.	1279;846;1379	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	L	1379;1347;1311;1279;846	ENSP00000408464:M1379L;ENSP00000394888:M1311L;ENSP00000419438:M1279L;ENSP00000371766:M846L	ENSP00000287364:M1347L	M	+	1	0	DOCK8	411060	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.189000	0.65098	2.202000	0.70862	0.533000	0.62120	ATG	-	NULL		0.567	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	A	XM_036307	-		421060	1	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	SNP	1.000	T	T	421060	A	T	421060	3	4	106	1	0	0	0	0	1	0	0	0	4695	333	12	5	4261	5	DOCK8	9	421060	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09		421060	140792371	78	6972											
OR1L1	26737	genome.wustl.edu	37	chr9	125424787	125424787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctattttcagcccctgtccAactatactgtcaaggatcaa	5	12	4	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:125424787A>T	ENST00000373686.1	+	1	943	c.943A>T	c.(943-945)Aac>Tac	p.N315Y	OR1L1_ENST00000309623.1_Missense_Mutation_p.N265Y			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	315						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(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCCCTGTCCAACTATACTGT	0.408																																																	0								ENSG00000173679						150	148	149					9																	125424787		2203	4300	6503	OR1L1	SO:0001583	missense	0			-	HGNC		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.943A>T	9.37:g.125424787A>T	ENSP00000362790:p.Asn315Tyr	Somatic	0	34	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	15	53.12	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N315Y	ENST00000373686.1	37	c.943		9	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572860	0.45798	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.00123	8.7;8.7	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.21097	0.63	0.09310	N	1	D	0.55385	0.971	P	0.56163	0.793	T	0.59150	-0.7508	9	0.54805	T	0.06	.	7.3013	0.26422	0.8029:0.0:0.0:0.1971	.	315	Q8NH94	OR1L1_HUMAN	Y	315;265	ENSP00000362790:N315Y;ENSP00000310773:N265Y	ENSP00000310773:N265Y	N	+	1	0	OR1L1	124464608	0.028000	0.19301	0.003000	0.11579	0.335000	0.28730	2.870000	0.48451	1.470000	0.48102	0.260000	0.18958	AAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.408	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	protein_coding		A		-		125424787	1	no_errors	ENST00000373686	ensembl	human	known	74_37	missense	SNP	0.000	T	T	125424787	A	T	125424787	3	4	106	1	0	0	0	0	1	0	0	0	10965	130	5	5	795	5	OR1L1	9	125424787	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	125003727	125424787	15788644	79	6973											
CACNA1B	774	genome.wustl.edu	37	chr9	140852096	140852096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaatgacctgatccaCgcagaggagggagaggaccg	15	9	0	5			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr9:140852096C>T	ENST00000371372.1	+	10	1435	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	CACNA1B_ENST00000371363.1_Silent_p.H430H|CACNA1B_ENST00000277551.2_Silent_p.H430H|CACNA1B_ENST00000371355.4_Silent_p.H431H|CACNA1B_ENST00000371357.1_Silent_p.H431H|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	430					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)	ACCTGATCCACGCAGAGGAGG	0.572																																																	0								ENSG00000148408						91	111	104					9																	140852096		2129	4252	6381	CACNA1B	SO:0001819	synonymous_variant	0			-	HGNC	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.1290C>T	9.37:g.140852096C>T		Somatic	0	20	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	4	80.00	B1AQK5	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.H431	ENST00000371372.1	37	c.1293	CCDS59522.1	9																																																																																			-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	C	NM_000718	-		140852096	1	no_errors	ENST00000371355	ensembl	human	known	74_37	silent	SNP	0.995	T	T	140852096	C	T	140852096	2	4	106	1	0	0	0	0	0	0	0	1	2541	535	19	1		1	CACNA1B	9	140852096	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	15427309	140852096	361335	80	6974											
EGR2	1959	genome.wustl.edu	37	chr10	64573949	64573949	+	Frame_Shift_Del	DEL	C	C	-													tctgggacatggtgcacacaCccaggggtcctgtggccagt							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr10:64573949delC	ENST00000242480.3	-	2	774	c.449delG	c.(448-450)ggtfs	p.G150fs	EGR2_ENST00000411732.1_Frame_Shift_Del_p.G100fs|EGR2_ENST00000439032.1_Frame_Shift_Del_p.G150fs|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	150					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTGCACACACCCAGGGGTCC	0.622																																																	0								ENSG00000122877						118	110	113					10																	64573949		2203	4300	6503	EGR2	SO:0001589	frameshift_variant	0				HGNC	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.449delG	10.37:g.64573949delC	ENSP00000242480:p.Gly150fs	Somatic	0	36	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Frame_Shift_Del	DEL							pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G150fs	ENST00000242480.3	37	c.449	CCDS7267.1	10																																																																																			-	pfam_DUF3446		0.622	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	protein_coding	OTTHUMT00000048245.2	C	NM_000399			64573949	-1	no_errors	ENST00000242480	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	64573949	C	-	64573949	7	5	106	1	0	1	0	1	0	0	0	0	4974	507	18	0	985	0	EGR2	10	64573949	Frame_Shift_Del	DEL	C	TCGA-DX-A8BT-01A-11D-A37C-09		64573949	70960798	81	6975											
CDH23	64072	genome.wustl.edu	37	chr10	73270948	73270949	+	Frame_Shift_Ins	INS	-	-	T													ccacatttcacaatcagcccINStacagcgtccgcatccctga							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr10:73270948_73270949insT	ENST00000224721.6	+	5	413_414	c.408_409insT	c.(409-411)tacfs	p.Y137fs	CDH23_ENST00000461841.3_Frame_Shift_Ins_p.Y182fs|CDH23_ENST00000398809.4_Frame_Shift_Ins_p.Y137fs|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Frame_Shift_Ins_p.Y137fs|CDH23_ENST00000299366.7_Frame_Shift_Ins_p.Y182fs	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	137	Cadherin 2. {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						ACAATCAGCCCTACAGCGTCCG	0.564																																																	0								ENSG00000107736																																			CDH23	SO:0001589	frameshift_variant	0				HGNC	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.409dupT	10.37:g.73270949_73270949dupT	ENSP00000224721:p.Tyr137fs	Somatic	0	39	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Frame_Shift_Ins	INS							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y181fs	ENST00000224721.6	37	c.543_544		10																																																																																			-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.564	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	-	NM_052836			73270949	1	no_errors	ENST00000461841	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	73270949	-	T	73270948	7	5	106	1	0	1	1	0	0	0	0	0	3110	668	24	0	426	0	CDH23	10	73270948	Frame_Shift_Ins	INS	-	TCGA-DX-A8BT-01A-11D-A37C-09	8696999	73270948	62263799	82	6976											
IFITM1	8519	genome.wustl.edu	37	chr11	314332	314332	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactggtgctgtctgggcttCatagcattcgcctactccgt	10	12	2	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr11:314332C>T	ENST00000408968.3	+	1	480	c.162C>T	c.(160-162)ttC>ttT	p.F54F	IFITM1_ENST00000528780.1_Silent_p.F54F|IFITM1_ENST00000328221.5_Silent_p.F54F	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	54					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCTGGGCTTCATAGCATTCG	0.617																																																	0								ENSG00000185885						131	136	134					11																	314332		2063	4206	6269	IFITM1	SO:0001819	synonymous_variant	0			-	HGNC	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.162C>T	11.37:g.314332C>T		Somatic	0	55	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	Q15322|Q53XZ0	Silent	SNP							pfam_CD225/Dispanin_fam	p.F54	ENST00000408968.3	37	c.162	CCDS41584.1	11																																																																																			-	pfam_CD225/Dispanin_fam		0.617	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM1	protein_coding	OTTHUMT00000383595.1	C	NM_003641	-		314332	1	no_errors	ENST00000328221	ensembl	human	known	74_37	silent	SNP	0.997	T	T	314332	C	T	314332	2	4	106	1	0	0	0	0	0	0	0	1	7528	825	29	2		2	IFITM1	11	314332	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09		314332	134692184	83	6977											
MACROD1	28992	genome.wustl.edu	37	chr11	63766430	63766430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcggggcacgtacccaCggggaagtagtgggggagcc	20	11	0	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr11:63766430C>T	ENST00000255681.6	-	9	1036	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	324					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						cACGTACCCACGGGGAAGTAG	0.716																																																	0								ENSG00000133315						14	17	16					11																	63766430		2128	4144	6272	MACROD1	SO:0001583	missense	0			-	HGNC	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.970G>A	11.37:g.63766430C>T	ENSP00000255681:p.Val324Met	Somatic	0	17	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q9UH96	Missense_Mutation	SNP							pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.V324M	ENST00000255681.6	37	c.970	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163597	0.21538	.	.	ENSG00000133315	ENST00000255681	T	0.24151	1.87	3.63	2.67	0.31697	.	0.749330	0.11095	U	0.600360	T	0.16811	0.0404	N	0.21097	0.63	0.09310	N	1	B	0.24618	0.107	B	0.06405	0.002	T	0.17623	-1.0363	10	0.56958	D	0.05	-6.6022	8.8881	0.35416	0.0:0.7697:0.2303:0.0	.	324	Q9BQ69	MACD1_HUMAN	M	324	ENSP00000255681:V324M	ENSP00000255681:V324M	V	-	1	0	MACROD1	63523006	0.001000	0.12720	0.047000	0.18901	0.458000	0.32498	0.086000	0.14935	0.834000	0.34852	0.462000	0.41574	GTG	-	NULL		0.716	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACROD1	protein_coding	OTTHUMT00000396570.1	C	NM_014067	-		63766430	-1	no_errors	ENST00000255681	ensembl	human	known	74_37	missense	SNP	0.130	T	T	63766430	C	T	63766430	3	4	106	1	0	0	0	0	1	0	0	0	9147	536	19	1	15	1	MACROD1	11	63766430	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	63452098	63766430	71240086	84	6978											
ODZ4	26011	genome.wustl.edu	37	chr11	78497988	78497988	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccagggctgcactcgcactTgccgtcgcggcaggtcccat	13	16	0	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr11:78497988T>A	ENST00000278550.7	-	16	2782	c.2320A>T	c.(2320-2322)Aag>Tag	p.K774*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	774	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CACTCGCACTTGCCGTCGCGG	0.687																																																	0								ENSG00000149256						13	16	15					11																	78497988		2050	4166	6216	TENM4	SO:0001587	stop_gained	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2320A>T	11.37:g.78497988T>A	ENSP00000278550:p.Lys774*	Somatic	0	78	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.K774*	ENST00000278550.7	37	c.2320	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	T	46	12.435856	0.99667	.	.	ENSG00000149256	ENST00000278550	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2402	0.73465	0.0:0.0:0.0:1.0	.	.	.	.	X	774	.	.	K	-	1	0	ODZ4	78175636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.820000	0.86633	2.198000	0.70561	0.533000	0.62120	AAG	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.687	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	T		-		78497988	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	78497988	T	A	78497988	4	1	106	1	0	0	0	0	0	1	0	0	10839	1821	63	5	6065	5	ODZ4	11	78497988	Nonsense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	14731558	78497988	56508528	85	6979											
LPAR5	57121	genome.wustl.edu	37	chr12	6729390	6729390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactggcggcatccggcctgGtggcgtcggtggtgacggcg	20	11	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:6729390G>T	ENST00000329858.4	-	2	1781	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	LPAR5_ENST00000540335.1_5'Flank|LPAR5_ENST00000431922.1_Missense_Mutation_p.T342N	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	342						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ATCCGGCCTGGTGGCGTCGGT	0.701																																					NSCLC(74;891 2312 37538)												0								ENSG00000184574						47	34	38					12																	6729390		2201	4299	6500	LPAR5	SO:0001583	missense	0			-	HGNC	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.1025C>A	12.37:g.6729390G>T	ENSP00000327875:p.Thr342Asn	Somatic	0	64	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T342N	ENST00000329858.4	37	c.1025	CCDS8553.1	12	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304561	0.40795	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.69926	-0.44;-0.44	4.56	0.385	0.16249	.	0.473115	0.17046	N	0.189103	T	0.43255	0.1239	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24083	-1.0170	10	0.49607	T	0.09	.	2.6869	0.05110	0.1727:0.1438:0.5358:0.1478	.	342	Q9H1C0	LPAR5_HUMAN	N	342	ENSP00000327875:T342N;ENSP00000393098:T342N	ENSP00000327875:T342N	T	-	2	0	LPAR5	6599651	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-1.707000	0.01893	0.172000	0.19760	0.491000	0.48974	ACC	-	NULL		0.701	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	protein_coding	OTTHUMT00000400699.1	G	NM_020400	-		6729390	-1	no_errors	ENST00000329858	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6729390	G	T	6729390	3	4	106	1	0	0	0	0	1	0	0	0	8910	1261	44	3	97	3	LPAR5	12	6729390	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		6729390	127122505	86	6980											
ACRBP	84519	genome.wustl.edu	37	chr12	6753720	6753720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggattgtaggagctcttccAcgttgttgctgagcctctca	11	10	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:6753720A>C	ENST00000229243.2	-	5	620	c.527T>G	c.(526-528)gTg>gGg	p.V176G	ACRBP_ENST00000536350.1_Missense_Mutation_p.V176G|ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Intron	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GAGCTCTTCCACGTTGTTGCT	0.587																																																	0								ENSG00000111644						80	75	77					12																	6753720		2203	4300	6503	ACRBP	SO:0001583	missense	0			-	HGNC	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.527T>G	12.37:g.6753720A>C	ENSP00000229243:p.Val176Gly	Somatic	0	55	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	11	72.50		Missense_Mutation	SNP							pfam_Proacrosin-bd	p.V176G	ENST00000229243.2	37	c.527	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	A	18.59	3.657722	0.67586	.	.	ENSG00000111644	ENST00000229243;ENST00000536350	T	0.57436	0.4	4.64	4.64	0.57946	.	0.127261	0.35067	N	0.003465	T	0.56834	0.2012	L	0.60455	1.87	0.58432	D	0.999999	P	0.41131	0.739	P	0.48114	0.567	T	0.61633	-0.7023	10	0.87932	D	0	0.3069	10.3671	0.44030	1.0:0.0:0.0:0.0	.	176	Q8NEB7	ACRBP_HUMAN	G	176	ENSP00000229243:V176G	ENSP00000229243:V176G	V	-	2	0	ACRBP	6623981	0.996000	0.38824	0.992000	0.48379	0.925000	0.55904	4.300000	0.59079	1.945000	0.56424	0.459000	0.35465	GTG	-	pfam_Proacrosin-bd		0.587	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	protein_coding	OTTHUMT00000400703.1	A	NM_032489	-		6753720	-1	no_errors	ENST00000229243	ensembl	human	known	74_37	missense	SNP	0.979	C	C	6753720	A	C	6753720	3	2	106	1	0	0	0	0	1	0	0	0	170	159	6	5	1128	5	ACRBP	12	6753720	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	24330	6753720	127098175	87	6981											
PZP	5858	genome.wustl.edu	37	chr12	9307325	9307325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgggccgtgagataagCgaggagcacataggatgtca	16	7	1	1	rs577575931		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:9307325C>T	ENST00000261336.2	-	29	3689	c.3661G>A	c.(3661-3663)Gct>Act	p.A1221T	PZP_ENST00000381997.2_Missense_Mutation_p.A1007T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1221					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						GTGAGATAAGCGAGGAGCACA	0.577																																					Melanoma(125;1402 1695 4685 34487 38571)												0								ENSG00000126838						94	85	88					12																	9307325		2203	4300	6503	PZP	SO:0001583	missense	0			-	HGNC	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.3661G>A	12.37:g.9307325C>T	ENSP00000261336:p.Ala1221Thr	Somatic	0	78	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.A1221T	ENST00000261336.2	37	c.3661	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950136	0.53186	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.50548	0.74;0.74	4.15	2.2	0.27929	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.180154	0.33916	N	0.004423	T	0.49218	0.1544	L	0.52266	1.64	0.29372	N	0.863941	D;D	0.67145	0.996;0.983	P;P	0.52881	0.712;0.585	T	0.49790	-0.8902	10	0.59425	D	0.04	.	9.1058	0.36696	0.0:0.7666:0.1483:0.0851	.	1007;1221	P20742-2;P20742	.;PZP_HUMAN	T	1221;1007	ENSP00000261336:A1221T;ENSP00000371427:A1007T	ENSP00000261336:A1221T	A	-	1	0	PZP	9198592	0.995000	0.38212	0.001000	0.08648	0.338000	0.28826	3.316000	0.51960	0.422000	0.26005	0.563000	0.77884	GCT	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.577	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	C	NM_002864	-		9307325	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	SNP	0.916	T	T	9307325	C	T	9307325	3	4	106	1	0	0	0	0	1	0	0	0	12877	768	27	1	819	1	PZP	12	9307325	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	2553605	9307325	124544570	88	6982											
FAR2	55711	genome.wustl.edu	37	chr12	29449969	29449969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagacatgctgtgcaactTaacgtcactgccacccggca	8	14	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:29449969T>C	ENST00000536681.3	+	4	627	c.381T>C	c.(379-381)ctT>ctC	p.L127L	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.L30L|FAR2_ENST00000182377.4_Silent_p.L127L	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	127					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGCAACTTAACGTCACTG	0.428																																																	0								ENSG00000064763						153	155	155					12																	29449969		2203	4300	6503	FAR2	SO:0001819	synonymous_variant	0			-	HGNC	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.381T>C	12.37:g.29449969T>C		Somatic	0	31	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	F8VV73|Q9H0D5|Q9NVW8	Silent	SNP							pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.L127	ENST00000536681.3	37	c.381	CCDS8717.1	12																																																																																			-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like		0.428	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	protein_coding	OTTHUMT00000403479.2	T	NM_018099	-		29449969	1	no_errors	ENST00000182377	ensembl	human	known	74_37	silent	SNP	0.237	C	C	29449969	T	C	29449969	2	2	106	1	0	0	0	0	0	0	0	1	5677	1741	61	5		5	FAR2	12	29449969	Silent	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09	20142644	29449969	104401926	89	6983											
DNM1L	10059	genome.wustl.edu	37	chr12	32884338	32884338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttcatttgagttactgGtgaagcggcaaatcaaacgt	11	6	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:32884338G>A	ENST00000549701.1	+	11	1323	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	DNM1L_ENST00000547312.1_Missense_Mutation_p.V417M|DNM1L_ENST00000553257.1_Missense_Mutation_p.V430M|DNM1L_ENST00000452533.2_Missense_Mutation_p.V417M|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.V214M|DNM1L_ENST00000358214.5_Missense_Mutation_p.V430M|DNM1L_ENST00000266481.6_Missense_Mutation_p.V417M|DNM1L_ENST00000381000.4_Missense_Mutation_p.V430M			O00429	DNM1L_HUMAN	dynamin 1-like	417	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGAGTTACTGGTGAAGCGGCA	0.418																																																	0								ENSG00000087470						111	115	113					12																	32884338		2203	4300	6503	DNM1L	SO:0001583	missense	0			-	HGNC	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1249G>A	12.37:g.32884338G>A	ENSP00000450399:p.Val417Met	Somatic	0	59	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.V430M	ENST00000549701.1	37	c.1288	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593600	0.86953	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.01	4.11	0.48088	Dynamin central domain (1);	0.059585	0.64402	D	0.000003	D	0.90140	0.6919	H	0.96175	3.78	0.80722	D	1	P;D;D;D;D;P	0.55385	0.932;0.971;0.971;0.964;0.971;0.948	P;P;P;P;P;P	0.58577	0.544;0.724;0.841;0.692;0.782;0.782	D	0.92949	0.6379	10	0.87932	D	0	.	14.6433	0.68742	0.0:0.0:0.8533:0.1467	.	214;470;470;483;470;417	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	M	417;483;417;430;417;430;417;417;214;430	ENSP00000415131:V417M;ENSP00000449089:V430M;ENSP00000450399:V417M;ENSP00000350948:V430M;ENSP00000266481:V417M;ENSP00000448610:V417M;ENSP00000404160:V214M;ENSP00000370388:V430M	ENSP00000266479:V417M	V	+	1	0	DNM1L	32775605	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.549000	0.98106	1.082000	0.41137	0.557000	0.71058	GTG	-	pfam_Dynamin_central		0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	protein_coding	OTTHUMT00000404124.1	G	NM_012062	-		32884338	1	no_errors	ENST00000553257	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32884338	G	A	32884338	3	1	106	1	0	0	0	0	1	0	0	0	4673	1261	44	2	1291	2	DNM1L	12	32884338	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	3434369	32884338	100967557	90	6984											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43821218	43821218	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actagcactttgtccattttCatcctggcagaccacagccc	6	15	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:43821218C>A	ENST00000389420.3	-	27	3999	c.4000G>T	c.(4000-4002)Gaa>Taa	p.E1334*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.E452*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E1334*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1334	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCCATTTTCATCCTGGCAG	0.488																																																	0								ENSG00000173157						116	86	96					12																	43821218		2203	4300	6503	ADAMTS20	SO:0001587	stop_gained	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4000G>T	12.37:g.43821218C>A	ENSP00000374071:p.Glu1334*	Somatic	0	43	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NNC9|J3QT00	Nonsense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1334*	ENST00000389420.3	37	c.4000	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	42	9.674013	0.99236	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.0406	0.92997	0.0:1.0:0.0:0.0	.	.	.	.	X	1334;464;452;1334;1334	.	ENSP00000374068:E1334X	E	-	1	0	ADAMTS20	42107485	1.000000	0.71417	0.990000	0.47175	0.873000	0.50193	5.541000	0.67212	2.670000	0.90874	0.650000	0.86243	GAA	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.488	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43821218	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	43821218	C	A	43821218	4	1	106	1	0	0	0	0	0	1	0	0	266	835	29	3	1783	3	ADAMTS20	12	43821218	Nonsense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	10936880	43821218	90030677	91	6985											
FAM186B	84070	genome.wustl.edu	37	chr12	49993263	49993263	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggacctaccggaggctctgGaggcgtctatagaagatgta	14	8	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:49993263G>C	ENST00000257894.2	-	4	2321	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Silent_p.L630L	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	720						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGGCTCTGGAGGCGTCTAT	0.592																																																	0								ENSG00000135436						49	48	48					12																	49993263		2203	4300	6503	FAM186B	SO:0001819	synonymous_variant	0			-	HGNC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2160C>G	12.37:g.49993263G>C		Somatic	0	53	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP							NULL	p.L720	ENST00000257894.2	37	c.2160	CCDS8788.1	12																																																																																			-	NULL		0.592	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	protein_coding	OTTHUMT00000394583.2	G	NM_032130	-		49993263	-1	no_errors	ENST00000257894	ensembl	human	known	74_37	silent	SNP	0.996	C	C	49993263	G	C	49993263	2	2	106	1	0	0	0	0	0	0	0	1	5514	1161	41	4		4	FAM186B	12	49993263	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	6172045	49993263	83858632	92	6986											
KRT6A	3853	genome.wustl.edu	37	chr12	52886582	52886582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggatgcctccaggggGgcacacagggaagccagggc	16	12	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:52886582G>A	ENST00000330722.6	-	1	459	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	131	Head.				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)		CCTCCAGGGGGGCACACAGGG	0.637																																																	0								ENSG00000205420						56	54	55					12																	52886582		2203	4296	6499	KRT6A	SO:0001583	missense	0			-	HGNC	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.391C>T	12.37:g.52886582G>A	ENSP00000369317:p.Pro131Ser	Somatic	0	100	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.P131S	ENST00000330722.6	37	c.391	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763584	0.69878	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.84730	-1.89	5.24	5.24	0.73138	.	0.100557	0.44285	N	0.000461	D	0.91503	0.7317	M	0.81112	2.525	0.35032	D	0.758871	D	0.63880	0.993	D	0.69307	0.963	D	0.94387	0.7610	10	0.62326	D	0.03	.	12.6041	0.56513	0.0763:0.0:0.9237:0.0	.	131	P02538	K2C6A_HUMAN	S	131;87	ENSP00000369317:P131S	ENSP00000369317:P131S	P	-	1	0	KRT6A	51172849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.098000	0.64548	2.626000	0.88956	0.549000	0.68633	CCC	-	NULL		0.637	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	protein_coding	OTTHUMT00000404978.2	G	NM_005554	-		52886582	-1	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52886582	G	A	52886582	3	1	106	1	0	0	0	0	1	0	0	0	8482	1232	43	2	1339	2	KRT6A	12	52886582	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	2893319	52886582	80965313	93	6987											
BTBD11	121551	genome.wustl.edu	37	chr12	108051405	108051405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaaaaatggtgaagggacCggccaggatgtgctccagga	15	8	0	1	rs576588335		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr12:108051405C>A	ENST00000280758.5	+	17	3753	c.3225C>A	c.(3223-3225)acC>acA	p.T1075T	BTBD11_ENST00000494235.2_Silent_p.T154T|BTBD11_ENST00000357167.4_Silent_p.T612T|BTBD11_ENST00000420571.2_Silent_p.T956T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1075						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTGAAGGGACCGGCCAGGATG	0.473																																																	0								ENSG00000151136						124	112	116					12																	108051405		2203	4300	6503	BTBD11	SO:0001819	synonymous_variant	0			-	HGNC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3225C>A	12.37:g.108051405C>A		Somatic	0	56	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	39.22	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP							pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.T1075	ENST00000280758.5	37	c.3225	CCDS31893.1	12																																																																																			-	NULL		0.473	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	protein_coding	OTTHUMT00000318003.1	C	NM_152322	-		108051405	1	no_errors	ENST00000280758	ensembl	human	known	74_37	silent	SNP	0.470	A	A	108051405	C	A	108051405	2	1	106	1	0	0	0	0	0	0	0	1	1541	639	23	3		3	BTBD11	12	108051405	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	55164823	108051405	25800490	94	6988											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751292	19751292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtaggccttctcggcTgagatgaccggggcgtaggt	17	9	1	2	rs147482964	byFrequency	TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:19751292T>C	ENST00000400113.3	-	4	935	c.831A>G	c.(829-831)tcA>tcG	p.S277S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	277					'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)		CCTTCTCGGCTGAGATGACCG	0.612																																																	0								ENSG00000198033						131	119	123					13																	19751292		2203	4300	6503	TUBA3C	SO:0001819	synonymous_variant	0			-	HGNC	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.831A>G	13.37:g.19751292T>C		Somatic	0	96	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S277	ENST00000400113.3	37	c.831	CCDS9284.1	13																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin		0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	T	NM_006001	rs147482964		19751292	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	SNP	0.934	C	C	19751292	T	C	19751292	2	2	106	1	0	0	0	0	0	0	0	1	16753	1567	55	5		5	TUBA3C	13	19751292	Silent	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09		19751292	95418586	95	6989											
ATP8A2	51761	genome.wustl.edu	37	chr13	26043135	26043135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctgttcgttcttctttgGgctataagaaggcagaggat	12	7	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:26043135G>T	ENST00000381655.2	+	2	239	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTCTTCTTTGGGCTATAAGAA	0.607																																																	0								ENSG00000132932						73	81	78					13																	26043135		2027	4182	6209	ATP8A2	SO:0001583	missense	0			-	HGNC	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.97G>T	13.37:g.26043135G>T	ENSP00000371070:p.Gly33Cys	Somatic	0	52	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G33C	ENST00000381655.2	37	c.97	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088366	0.55968	.	.	ENSG00000132932	ENST00000381655	T	0.59224	0.28	4.16	2.3	0.28687	.	0.344881	0.28877	N	0.013858	T	0.49321	0.1550	N	0.25647	0.755	0.80722	D	1	.	.	.	.	.	.	T	0.52837	-0.8522	8	0.62326	D	0.03	.	8.5993	0.33734	0.0944:0.1587:0.7469:0.0	.	.	.	.	C	33	ENSP00000371070:G33C	ENSP00000371070:G33C	G	+	1	0	ATP8A2	24941135	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.691000	0.68249	2.156000	0.67533	0.400000	0.26472	GGC	-	NULL		0.607	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	protein_coding	OTTHUMT00000044236.2	G	NM_016529	-		26043135	1	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26043135	G	T	26043135	3	4	106	1	0	0	0	0	1	0	0	0	1193	1232	43	3	103	3	ATP8A2	13	26043135	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	6291843	26043135	89126743	96	6990											
BRCA2	675	genome.wustl.edu	37	chr13	32914820	32914820	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaaaatacttcctcgtgttGataagagaaacccagagcac	7	10	0	3			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:32914820G>T	ENST00000380152.3	+	11	6561	c.6328G>T	c.(6328-6330)Gat>Tat	p.D2110Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.D2110Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2110					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCCTCGTGTTGATAAGAGAAA	0.338			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0								ENSG00000139618						41	43	42					13																	32914820		2203	4297	6500	BRCA2	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6328G>T	13.37:g.32914820G>T	ENSP00000369497:p.Asp2110Tyr	Somatic	0	50	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP							pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.D2110Y	ENST00000380152.3	37	c.6328	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982469	0.18889	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00848	5.62;5.62	5.49	3.76	0.43208	.	1.031150	0.07651	N	0.932003	T	0.02119	0.0066	L	0.54323	1.7	0.26033	N	0.981716	P	0.47409	0.895	P	0.45946	0.498	T	0.52586	-0.8556	10	0.56958	D	0.05	.	10.2794	0.43530	0.1531:0.0:0.8469:0.0	.	2110	P51587	BRCA2_HUMAN	Y	2110	ENSP00000369497:D2110Y;ENSP00000439902:D2110Y	ENSP00000369497:D2110Y	D	+	1	0	BRCA2	31812820	0.037000	0.19845	0.019000	0.16419	0.340000	0.28889	1.995000	0.40767	0.690000	0.31570	0.591000	0.81541	GAT	-	pirsf_BRCA2		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	G	NM_000059	-		32914820	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	SNP	0.598	T	T	32914820	G	T	32914820	3	4	106	1	0	0	0	0	1	0	0	0	1501	1290	45	3	6366	3	BRCA2	13	32914820	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	6871685	32914820	82255058	97	6991											
TM9SF2	9375	genome.wustl.edu	37	chr13	100172383	100172383	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgaaccttcaccatataaGgtttgtatttagtgttacat	6	6	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:100172383G>T	ENST00000376387.4	+	3	523	c.333G>T	c.(331-333)aaG>aaT	p.K111N	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	111					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CACCATATAAGGTTTGTATTT	0.363																																																	0								ENSG00000125304						59	59	59					13																	100172383		2203	4300	6503	TM9SF2	SO:0001630	splice_region_variant	0			-	HGNC	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.333+1G>T	13.37:g.100172383G>T		Somatic	0	42	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A8K399|Q2TAY5	Missense_Mutation	SNP							pfam_EMP70	p.K111N	ENST00000376387.4	37	c.333	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838508	0.51057	.	.	ENSG00000125304	ENST00000376387	T	0.49720	0.77	5.75	5.75	0.90469	.	0.042078	0.85682	D	0.000000	T	0.43188	0.1236	L	0.37466	1.105	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.002;0.008	T	0.14755	-1.0461	10	0.33940	T	0.23	-14.6296	19.9911	0.97363	0.0:0.0:1.0:0.0	.	111;111	E9PHW5;Q99805	.;TM9S2_HUMAN	N	111	ENSP00000365567:K111N	ENSP00000365567:K111N	K	+	3	2	TM9SF2	98970384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.083000	0.89515	2.734000	0.93682	0.585000	0.79938	AAG	-	pfam_EMP70		0.363	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	protein_coding	OTTHUMT00000045602.3	G		-	Missense_Mutation	100172383	1	no_errors	ENST00000376387	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100172383	G	T	100172383	5	4	106	1	0	0	0	0	0	0	1	0	15985	1014	35	3	343	3	TM9SF2	13	100172383	Splice_Site	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	67257563	100172383	14997495	98	6992											
PROZ	8858	genome.wustl.edu	37	chr13	113826251	113826251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactgtgagagaagcagCgtggcggccatgcactggat	14	10	0	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr13:113826251C>T	ENST00000375547.2	+	8	1042	c.1035C>T	c.(1033-1035)agC>agT	p.S345S	PROZ_ENST00000342783.4_Silent_p.S367S	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	345	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGAGAAGCAGCGTGGCGGCCA	0.622																																																	0								ENSG00000126231						50	49	49					13																	113826251		2203	4300	6503	PROZ	SO:0001819	synonymous_variant	0			-	HGNC	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1035C>T	13.37:g.113826251C>T		Somatic	0	52	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP							pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.S345	ENST00000375547.2	37	c.1035	CCDS9531.1	13																																																																																			-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.622	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	protein_coding	OTTHUMT00000045845.1	C	NM_003891	-		113826251	1	no_errors	ENST00000375547	ensembl	human	known	74_37	silent	SNP	0.000	T	T	113826251	C	T	113826251	2	4	106	1	0	0	0	0	0	0	0	1	12567	767	27	1		1	PROZ	13	113826251	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	13653868	113826251	1343627	99	6993											
C14orf145	145508	genome.wustl.edu	37	chr14	81372338	81372338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcacttgcactcaaacTtgtaacagaaatacttctcc	5	11	3	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr14:81372338T>C	ENST00000555265.1	-	5	697	c.322A>G	c.(322-324)Agt>Ggt	p.S108G	CEP128_ENST00000216517.6_Missense_Mutation_p.S108G|CEP128_ENST00000327841.2_Missense_Mutation_p.S48G|CEP128_ENST00000281129.3_Missense_Mutation_p.S108G			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	108						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.S108C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCACTCAAACTTGTAACAGAA	0.348																																																	1	Substitution - Missense(1)	NS(1)						ENSG00000100629						77	74	75					14																	81372338		2203	4300	6503	CEP128	SO:0001583	missense	0			-	HGNC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.322A>G	14.37:g.81372338T>C	ENSP00000451162:p.Ser108Gly	Somatic	0	33	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP							NULL	p.S108G	ENST00000555265.1	37	c.322	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579748	0.65992	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042	T;T;T;T;T	0.53206	1.22;1.22;0.63;0.67;0.69	6.16	6.16	0.99307	.	0.052703	0.85682	D	0.000000	T	0.52629	0.1746	L	0.34521	1.04	0.37518	D	0.91742	D;D;D	0.65815	0.995;0.971;0.99	P;P;P	0.59643	0.861;0.721;0.701	T	0.53070	-0.8490	10	0.25751	T	0.34	.	14.3293	0.66545	0.0:0.0:0.0:1.0	.	108;108;108	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	G	108;108;108;108;48;108;108	ENSP00000281129:S108G;ENSP00000451162:S108G;ENSP00000216517:S108G;ENSP00000451137:S108G;ENSP00000451214:S108G	ENSP00000216517:S108G	S	-	1	0	CEP128	80442091	1.000000	0.71417	0.995000	0.50966	0.434000	0.31775	5.194000	0.65125	2.367000	0.80283	0.528000	0.53228	AGT	-	NULL		0.348	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	protein_coding	OTTHUMT00000413415.1	T	NM_152446	-		81372338	-1	no_errors	ENST00000281129	ensembl	human	known	74_37	missense	SNP	1.000	C	C	81372338	T	C	81372338	3	2	106	1	0	0	0	0	1	0	0	0	1751	1609	56	5	3046	5	C14orf145	14	81372338	Missense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09		81372338	25977202	100	6994											
LTK	4058	genome.wustl.edu	37	chr15	41800415	41800415	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacctctccgtggttctcGgtgactgtgagtaaaagaac	10	10	3	3	rs377698700		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:41800415G>T	ENST00000263800.6	-	9	1197	c.1101C>A	c.(1099-1101)acC>acA	p.T367T	LTK_ENST00000561619.1_Silent_p.T49T|LTK_ENST00000453182.2_Silent_p.T306T|LTK_ENST00000355166.5_Silent_p.T306T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	367					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGTGGTTCTCGGTGACTGTGA	0.512										TSP Lung(18;0.14)																																							0								ENSG00000062524						145	129	134					15																	41800415		2203	4300	6503	LTK	SO:0001819	synonymous_variant	0			-	HGNC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1101C>A	15.37:g.41800415G>T		Somatic	0	27	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NNJ8|B4DL89|E9PFX4	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T367	ENST00000263800.6	37	c.1101	CCDS10077.1	15																																																																																			-	NULL		0.512	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	protein_coding	OTTHUMT00000252690.2	G		-		41800415	-1	no_errors	ENST00000263800	ensembl	human	known	74_37	silent	SNP	0.026	T	T	41800415	G	T	41800415	2	4	106	1	0	0	0	0	0	0	0	1	9082	1103	39	3		3	LTK	15	41800415	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		41800415	60730977	101	6995											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42448730	42448730	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgccagccaccttggCcagagtgcccaaagcatggc	11	14	1	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:42448730C>T	ENST00000382396.4	-	1	104	c.18G>A	c.(16-18)tgG>tgA	p.W6*	PLA2G4F_ENST00000397272.3_Nonsense_Mutation_p.W6*			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	6					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACCTTGGCCAGAGTGCCC	0.647																																																	0								ENSG00000168907						15	14	14					15																	42448730		2178	4216	6394	PLA2G4F	SO:0001587	stop_gained	0			-	HGNC		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.18G>A	15.37:g.42448730C>T	ENSP00000371833:p.Trp6*	Somatic	0	43	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q6ZMC8	Nonsense_Mutation	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.W6*	ENST00000382396.4	37	c.18	CCDS32204.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.501811|5.501811	0.96371|0.96371	.|.	.|.	ENSG00000168907|ENSG00000168907	ENST00000290497|ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.687962	.|0.12872	.|N	.|0.432161	T|.	0.67192|.	0.2867|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66160|.	-0.5993|.	4|.	0.31617|0.32370	T|T	0.26|0.25	-4.5449|-4.5449	17.3394|17.3394	0.87291|0.87291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	27|6	.|.	ENSP00000290497:A27T|ENSP00000350604:W6X	A|W	-|-	1|3	0|0	PLA2G4F|PLA2G4F	40236022|40236022	0.998000|0.998000	0.40836|0.40836	0.745000|0.745000	0.31077|0.31077	0.977000|0.977000	0.68977|0.68977	4.087000|4.087000	0.57671|0.57671	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	GCC|TGG	-	NULL		0.647	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	protein_coding	OTTHUMT00000420463.1	C	NM_213600	-		42448730	-1	no_errors	ENST00000397272	ensembl	human	known	74_37	nonsense	SNP	0.933	T	T	42448730	C	T	42448730	4	4	106	1	0	0	0	0	0	1	0	0	12008	740	26	2	2611	2	PLA2G4F	15	42448730	Nonsense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	648315	42448730	60082662	102	6996											
HDC	3067	genome.wustl.edu	37	chr15	50534992	50534992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaggttcccaacccgaGggctgggttgggaagtacag	16	8	0	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:50534992G>A	ENST00000267845.3	-	12	1856	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.P452L	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CCCAACCCGAGGGCTGGGTTG	0.562																																					GBM(95;1627 1936 6910 9570)												0								ENSG00000140287						43	47	46					15																	50534992		2196	4295	6491	HDC	SO:0001583	missense	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1454C>T	15.37:g.50534992G>A	ENSP00000267845:p.Pro485Leu	Somatic	0	42	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15		Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.P485L	ENST00000267845.3	37	c.1454	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955555	0.34471	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.09538	3.08;2.97	5.95	5.02	0.67125	.	0.377447	0.26867	N	0.022081	T	0.10680	0.0261	L	0.34521	1.04	0.46749	D	0.999181	B;P	0.38922	0.329;0.651	B;B	0.36030	0.077;0.216	T	0.04635	-1.0937	10	0.66056	D	0.02	-10.1816	15.4985	0.75677	0.0:0.1378:0.8622:0.0	.	452;485	B7ZM01;P19113	.;DCHS_HUMAN	L	485;452	ENSP00000267845:P485L;ENSP00000440252:P452L	ENSP00000267845:P485L	P	-	2	0	HDC	48322284	0.986000	0.35501	0.953000	0.39169	0.405000	0.30901	5.856000	0.69518	1.504000	0.48704	0.563000	0.77884	CCT	-	NULL		0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	G		-		50534992	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	missense	SNP	0.924	A	A	50534992	G	A	50534992	3	1	106	1	0	0	0	0	1	0	0	0	7017	1000	35	2	538	2	HDC	15	50534992	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	8086262	50534992	51996400	103	6997											
IDH3A	3419	genome.wustl.edu	37	chr15	78452499	78452499	+	Silent	SNP	C	C	T													cctggaggaaagtggatgatCccttcagaggctaaagagtc							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:78452499C>T	ENST00000299518.2	+	4	323	c.240C>T	c.(238-240)atC>atT	p.I80I	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.I80I	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	80					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						AGTGGATGATCCCTTCAGAGG	0.507																																																	0								ENSG00000166411						85	78	80					15																	78452499		2196	4293	6489	IDH3A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.240C>T	15.37:g.78452499C>T		Somatic	0	42	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	D3DW83|Q9H3X0	Silent	SNP							pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.I80	ENST00000299518.2	37	c.240	CCDS10297.1	15																																																																																			-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.507	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	protein_coding	OTTHUMT00000289799.4	C	NM_005530	-		78452499	1	no_errors	ENST00000299518	ensembl	human	known	74_37	silent	SNP	1.000	T	T	78452499	C	T	78452499	2	4	106	1	0	0	0	0	0	0	0	1	7498	845	30	2		2	IDH3A	15	78452499	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	27917507	78452499	24078893	104	6998	104	2									
IDH3A	3419	genome.wustl.edu	37	chr15	78452504	78452504	+	Missense_Mutation	SNP	C	C	T													aggaaagtggatgatcccttCagaggctaaagagtccatgg							TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr15:78452504C>T	ENST00000299518.2	+	4	328	c.245C>T	c.(244-246)tCa>tTa	p.S82L	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Missense_Mutation_p.S82L	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	82					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.S82L(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						ATGATCCCTTCAGAGGCTAAA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000166411						80	74	76					15																	78452504		2196	4293	6489	IDH3A	SO:0001583	missense	0			-	HGNC		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.245C>T	15.37:g.78452504C>T	ENSP00000299518:p.Ser82Leu	Somatic	0	42	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	D3DW83|Q9H3X0	Missense_Mutation	SNP							pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S82L	ENST00000299518.2	37	c.245	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593959	0.66219	.	.	ENSG00000166411	ENST00000299518	T	0.69175	-0.38	5.62	5.62	0.85841	Isopropylmalate dehydrogenase-like domain (2);	0.048279	0.85682	D	0.000000	T	0.63224	0.2493	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.57768	-0.7754	10	0.45353	T	0.12	-3.9898	18.6639	0.91481	0.0:1.0:0.0:0.0	.	82;82	B4DSY4;P50213	.;IDH3A_HUMAN	L	82	ENSP00000299518:S82L	ENSP00000299518:S82L	S	+	2	0	IDH3A	76239559	0.985000	0.35326	0.941000	0.38009	0.986000	0.74619	3.913000	0.56394	2.644000	0.89710	0.561000	0.74099	TCA	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.498	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	protein_coding	OTTHUMT00000289799.4	C	NM_005530	-		78452504	1	no_errors	ENST00000299518	ensembl	human	known	74_37	missense	SNP	0.999	T	T	78452504	C	T	78452504	3	4	106	1	0	0	0	0	1	0	0	0	7498	838	29	2	259	2	IDH3A	15	78452504	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	5	78452504	24078888	105	6999	104	2									
BRD7	29117	genome.wustl.edu	37	chr16	50357503	50357503	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagcagtgttcttaccatctCcatctcttgtagggtcctgg	9	11	3	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:50357503C>A	ENST00000394688.3	-	12	1597	c.1438G>T	c.(1438-1440)Gag>Tag	p.E480*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.E480*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	480					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTTACCATCTCCATCTCTTGT	0.393																																																	0								ENSG00000166164						157	129	139					16																	50357503		2198	4300	6498	BRD7	SO:0001587	stop_gained	0			-	HGNC	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1438G>T	16.37:g.50357503C>A	ENSP00000378180:p.Glu480*	Somatic	0	48	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP							pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E480*	ENST00000394688.3	37	c.1438	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.253021	0.97417	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.5	5.5	0.81552	.	0.241141	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-30.1046	12.6985	0.57018	0.0:0.9245:0.0:0.0755	.	.	.	.	X	480	.	ENSP00000378180:E480X	E	-	1	0	BRD7	48915004	1.000000	0.71417	0.665000	0.29768	0.716000	0.41182	4.475000	0.60210	2.581000	0.87130	0.563000	0.77884	GAG	-	pfam_DUF3512		0.393	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	protein_coding	OTTHUMT00000256874.3	C	NM_013263	-		50357503	-1	no_errors	ENST00000394689	ensembl	human	known	74_37	nonsense	SNP	0.789	A	A	50357503	C	A	50357503	4	1	106	1	0	0	0	0	0	1	0	0	1507	864	30	3	544	3	BRD7	16	50357503	Nonsense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09		50357503	39997250	106	7000											
NUP93	9688	genome.wustl.edu	37	chr16	56832428	56832428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaatgccctgctgtctgCcatcgaagagtcccggaaga	12	12	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:56832428C>T	ENST00000308159.5	+	4	459	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000542526.1_5'UTR|NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000569842.1_Missense_Mutation_p.A113V	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	113					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						CTGCTGTCTGCCATCGAAGAG	0.418																																					Colon(33;610 796 1305 1705 38917)												0								ENSG00000102900						74	75	75					16																	56832428		2198	4300	6498	NUP93	SO:0001583	missense	0			-	HGNC	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.338C>T	16.37:g.56832428C>T	ENSP00000310668:p.Ala113Val	Somatic	0	50	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B3KPQ8|Q14705	Missense_Mutation	SNP							pfam_Nucleoporin_int_Nup93/Nic96	p.A113V	ENST00000308159.5	37	c.338	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666445	0.29604	.	.	ENSG00000102900	ENST00000308159	T	0.45668	0.89	5.94	5.94	0.96194	.	0.143064	0.64402	D	0.000005	T	0.25644	0.0624	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09751	-1.0660	10	0.21014	T	0.42	-9.4552	20.0158	0.97477	0.0:1.0:0.0:0.0	.	113	Q8N1F7	NUP93_HUMAN	V	113	ENSP00000310668:A113V	ENSP00000310668:A113V	A	+	2	0	NUP93	55389929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.540000	0.82074	2.825000	0.97269	0.644000	0.83932	GCC	-	NULL		0.418	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	protein_coding	OTTHUMT00000257058.4	C	NM_014669	-		56832428	1	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56832428	C	T	56832428	3	4	106	1	0	0	0	0	1	0	0	0	10774	739	26	2	348	2	NUP93	16	56832428	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	6474925	56832428	33522325	107	7001											
PMFBP1	83449	genome.wustl.edu	37	chr16	72166711	72166711	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttctggacctcagcctgCagggccttgcactccgcctc	10	17	2	0	rs372420846		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr16:72166711C>A	ENST00000237353.10	-	10	1644	c.1383G>T	c.(1381-1383)ctG>ctT	p.L461L	PMFBP1_ENST00000537465.1_Silent_p.L461L|PMFBP1_ENST00000355636.6_Silent_p.L316L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	461						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCAGCCTGCAGGGCCTTGC	0.577																																																	0								ENSG00000118557						148	119	129					16																	72166711		2198	4300	6498	PMFBP1	SO:0001819	synonymous_variant	0			-	HGNC	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1383G>T	16.37:g.72166711C>A		Somatic	0	54	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP							NULL	p.L461	ENST00000237353.10	37	c.1383	CCDS32483.1	16																																																																																			-	NULL		0.577	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	protein_coding	OTTHUMT00000396473.2	C	NM_031293	-		72166711	-1	no_errors	ENST00000537465	ensembl	human	known	74_37	silent	SNP	0.017	A	A	72166711	C	A	72166711	2	1	106	1	0	0	0	0	0	0	0	1	12136	697	25	3		3	PMFBP1	16	72166711	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	15334283	72166711	18188042	108	7002											
ABCC3	8714	genome.wustl.edu	37	chr17	48746756	48746756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcatggatccagaactGcactcttcaggaaaacgtgc	11	11	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr17:48746756G>T	ENST00000285238.8	+	17	2188	c.2108G>T	c.(2107-2109)tGc>tTc	p.C703F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	703	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	ATCCAGAACTGCACTCTTCAG	0.602																																																	0								ENSG00000108846						88	81	83					17																	48746756		2203	4300	6503	ABCC3	SO:0001583	missense	0			-	HGNC	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.2108G>T	17.37:g.48746756G>T	ENSP00000285238:p.Cys703Phe	Somatic	0	47	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.C703F	ENST00000285238.8	37	c.2108	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830950	0.50845	.	.	ENSG00000108846	ENST00000285238	D	0.93547	-3.24	4.36	2.2	0.27929	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.496508	0.20722	N	0.086893	D	0.87022	0.6074	N	0.01168	-0.975	0.42936	D	0.994331	D	0.53462	0.96	P	0.54965	0.765	D	0.90124	0.4201	10	0.72032	D	0.01	-12.7161	14.1917	0.65641	0.0:0.4161:0.5839:0.0	.	703	O15438	MRP3_HUMAN	F	703	ENSP00000285238:C703F	ENSP00000285238:C703F	C	+	2	0	ABCC3	46101755	1.000000	0.71417	0.989000	0.46669	0.735000	0.41995	4.328000	0.59253	1.184000	0.42957	0.313000	0.20887	TGC	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	G	NM_020038	-		48746756	1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48746756	G	T	48746756	3	4	106	1	0	0	0	0	1	0	0	0	54	1319	46	3	2258	3	ABCC3	17	48746756	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		48746756	32448454	109	7003											
ASXL3	80816	genome.wustl.edu	37	chr18	31320086	31320086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctaaattacaggacaagcaAtatatctcatcagtggataa	7	7	2	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr18:31320086A>T	ENST00000269197.5	+	11	2718	c.2718A>T	c.(2716-2718)caA>caT	p.Q906H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	906					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						AGGACAAGCAATATATCTCAT	0.373																																																	0								ENSG00000141431						92	89	90					18																	31320086		1858	4101	5959	ASXL3	SO:0001583	missense	0			-	HGNC	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.2718A>T	18.37:g.31320086A>T	ENSP00000269197:p.Gln906His	Somatic	0	24	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.Q906H	ENST00000269197.5	37	c.2718	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	2.080	-0.410965	0.04799	.	.	ENSG00000141431	ENST00000269197	T	0.15372	2.43	6.07	-7.88	0.01178	.	1.766260	0.02720	N	0.113871	T	0.13415	0.0325	L	0.32530	0.975	0.19945	N	0.999949	B	0.11235	0.004	B	0.06405	0.002	T	0.15549	-1.0433	10	0.36615	T	0.2	.	12.8708	0.57965	0.5272:0.0759:0.3969:0.0	.	906	Q9C0F0	ASXL3_HUMAN	H	906	ENSP00000269197:Q906H	ENSP00000269197:Q906H	Q	+	3	2	ASXL3	29574084	0.020000	0.18652	0.031000	0.17742	0.086000	0.17979	-1.048000	0.03517	-1.669000	0.01470	-2.096000	0.00365	CAA	-	NULL		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	A		-		31320086	1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	SNP	0.145	T	T	31320086	A	T	31320086	3	4	106	1	0	0	0	0	1	0	0	0	1068	98	4	5	2760	5	ASXL3	18	31320086	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09		31320086	46757162	110	7004											
DCC	1630	genome.wustl.edu	37	chr18	50985690	50985690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatccatcatgaagaaatgGagatgaaaaatattgaaaag	10	3	1	5			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr18:50985690G>A	ENST00000442544.2	+	24	4097	c.3481G>A	c.(3481-3483)Gag>Aag	p.E1161K	DCC_ENST00000581580.1_Missense_Mutation_p.E796K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1161					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGAAATGGAGATGAAAAA	0.522																																																	0								ENSG00000187323						95	97	96					18																	50985690		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3481G>A	18.37:g.50985690G>A	ENSP00000389140:p.Glu1161Lys	Somatic	0	40	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00		Missense_Mutation	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E1161K	ENST00000442544.2	37	c.3481	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284158	0.59867	.	.	ENSG00000187323	ENST00000442544	T	0.68025	-0.3	5.93	5.93	0.95920	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81936	-0.0705	10	0.72032	D	0.01	-10.6014	19.1254	0.93380	0.0:0.0:1.0:0.0	.	1161	P43146	DCC_HUMAN	K	1161	ENSP00000389140:E1161K	ENSP00000389140:E1161K	E	+	1	0	DCC	49239688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.322000	0.96357	2.826000	0.97356	0.655000	0.94253	GAG	-	pfam_Neogenin_C		0.522	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50985690	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50985690	G	A	50985690	3	1	106	1	0	0	0	0	1	0	0	0	4284	1175	41	2	3575	2	DCC	18	50985690	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	19665604	50985690	27091558	111	7005											
KIAA1468	57614	genome.wustl.edu	37	chr18	59947878	59947878	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctgttttaattctaacaGctctgtcaggattgccacaa	6	9	4	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr18:59947878G>T	ENST00000398130.2	+	24	3282		c.e24-1		KIAA1468_ENST00000256858.6_Splice_Site	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468											autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AATTCTAACAGCTCTGTCAGG	0.299																																																	0								ENSG00000134444						53	54	54					18																	59947878		2203	4300	6503	KIAA1468	SO:0001630	splice_region_variant	0			-	HGNC	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3051-1G>T	18.37:g.59947878G>T		Somatic	0	46	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68		Splice_Site	SNP							-	e25-1	ENST00000398130.2	37	c.3153-1	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474148	0.63737	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.58	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8486	0.85987	0.0:0.1286:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1468	58098858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.076000	0.94009	1.480000	0.48289	0.591000	0.81541	.	-	-		0.299	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	protein_coding	OTTHUMT00000256187.1	G	NM_020854	-	Intron	59947878	1	no_errors	ENST00000256858	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	59947878	G	T	59947878	5	4	106	1	0	0	0	0	0	0	1	0	8238	985	34	3	3144	3	KIAA1468	18	59947878	Splice_Site	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	8962188	59947878	18129370	112	7006											
RFX2	5990	genome.wustl.edu	37	chr19	6013073	6013073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagccggttcagtggtgagtCcggcttcagacgaatcccat	12	12	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:6013073C>G	ENST00000303657.5	-	8	972	c.823G>C	c.(823-825)Gac>Cac	p.D275H	RFX2_ENST00000359161.3_Missense_Mutation_p.D275H|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.D250H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGTGGTGAGTCCGGCTTCAGA	0.592																																					Colon(38;171 817 19800 47433 48051)												0								ENSG00000087903						129	123	125					19																	6013073		2203	4300	6503	RFX2	SO:0001583	missense	0			-	HGNC		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.823G>C	19.37:g.6013073C>G	ENSP00000306335:p.Asp275His	Somatic	0	31	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP							pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.D275H	ENST00000303657.5	37	c.823	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354404	0.82243	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	D	0.83335	-1.71	4.99	4.99	0.66335	.	0.047878	0.85682	D	0.000000	D	0.90528	0.7032	M	0.78637	2.42	0.80722	D	1	P;P	0.40083	0.702;0.577	P;P	0.58172	0.834;0.687	D	0.90977	0.4824	10	0.59425	D	0.04	-39.4785	17.2454	0.87026	0.0:1.0:0.0:0.0	.	250;275	P48378-2;P48378	.;RFX2_HUMAN	H	275;250;62	ENSP00000306335:D275H	ENSP00000306335:D275H	D	-	1	0	RFX2	5964073	0.992000	0.36948	0.988000	0.46212	0.951000	0.60555	3.024000	0.49674	2.473000	0.83533	0.557000	0.71058	GAC	-	NULL		0.592	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	protein_coding	OTTHUMT00000452687.1	C	NM_000635	-		6013073	-1	no_errors	ENST00000303657	ensembl	human	known	74_37	missense	SNP	1.000	G	G	6013073	C	G	6013073	3	3	106	1	0	0	0	0	1	0	0	0	13271	855	30	4	1392	4	RFX2	19	6013073	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09		6013073	53115910	113	7007											
DOCK6	57572	genome.wustl.edu	37	chr19	11353984	11353984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggacggaagccagagaAgctgcaggcgtcgtccccac	15	13	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:11353984A>C	ENST00000294618.7	-	12	1347	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	446					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AAGCCAGAGAAGCTGCAGGCG	0.647											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000130158						20	25	23					19																	11353984		1964	4138	6102	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1336T>G	19.37:g.11353984A>C	ENSP00000294618:p.Phe446Val	Somatic	0	127	0	671	0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	123	11.51	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N	p.F446V	ENST00000294618.7	37	c.1336	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213777	0.39102	.	.	ENSG00000130158	ENST00000294618	T	0.43688	0.94	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.27053	0.805	0.80722	D	1	B	0.24618	0.107	B	0.25987	0.065	T	0.06215	-1.0839	10	0.15499	T	0.54	-24.623	7.2428	0.26106	0.8959:0.0:0.1041:0.0	.	446	Q96HP0	DOCK6_HUMAN	V	446	ENSP00000294618:F446V	ENSP00000294618:F446V	F	-	1	0	DOCK6	11214984	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.650000	0.37292	1.518000	0.48934	0.379000	0.24179	TTC	-	NULL		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	A	NM_020812	-		11353984	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11353984	A	C	11353984	3	2	106	1	0	0	0	0	1	0	0	0	4693	72	3	5	4955	5	DOCK6	19	11353984	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	5340911	11353984	47774999	114	7008											
CPAMD8	27151	genome.wustl.edu	37	chr19	17086902	17086902	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagctgccccttgcagccctGatccgcaggtcgacaacctc	9	18	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:17086902G>T	ENST00000443236.1	-	16	1990	c.1959C>A	c.(1957-1959)atC>atA	p.I653I	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	606						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGCAGCCCTGATCCGCAGGT	0.562																																																	0								ENSG00000160111						43	48	46					19																	17086902		2066	4208	6274	CPAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1959C>A	19.37:g.17086902G>T		Somatic	0	26	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q8NC09|Q9ULD7	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.I653	ENST00000443236.1	37	c.1959	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382630	0.01204	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.85	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.32411	N	0.550648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3979	0.02264	0.2011:0.3015:0.3409:0.1565	.	.	.	.	X	664	.	.	S	-	2	0	CPAMD8	16947902	0.300000	0.24435	0.037000	0.18230	0.010000	0.07245	0.006000	0.13152	-0.043000	0.13513	-0.323000	0.08544	TCA	-	pfam_A2M_N_2		0.562	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	G	NM_015692	-		17086902	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	SNP	0.097	T	T	17086902	G	T	17086902	2	4	106	1	0	0	0	0	0	0	0	1	3797	1280	45	3		3	CPAMD8	19	17086902	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	5732918	17086902	42042081	115	7009											
ZNF85	7639	genome.wustl.edu	37	chr19	21131580	21131580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattttgcccaagacctttGgccggagcagaatataaaag	9	9	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:21131580G>T	ENST00000328178.8	+	4	373	c.260G>T	c.(259-261)tGg>tTg	p.W87L	ZNF85_ENST00000601023.1_Missense_Mutation_p.W28L|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Missense_Mutation_p.W54L	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	87					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)|transcription corepressor activity (GO:0003714)	p.W87S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAGACCTTTGGCCGGAGCAG	0.323																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000105750						58	58	58					19																	21131580		2203	4299	6502	ZNF85	SO:0001583	missense	0			-	HGNC	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.260G>T	19.37:g.21131580G>T	ENSP00000329793:p.Trp87Leu	Somatic	0	50	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	75	9.64	B9ZVP4|Q6NVI0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W87L	ENST00000328178.8	37	c.260	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	3.436	-0.115088	0.06881	.	.	ENSG00000105750	ENST00000328178;ENST00000345030	T;T	0.05139	3.62;3.49	1.04	-2.09	0.07232	.	.	.	.	.	T	0.04497	0.0123	L	0.46670	1.46	0.09310	N	1	P;P;P	0.44521	0.837;0.675;0.788	B;B;B	0.42030	0.373;0.122;0.244	T	0.27365	-1.0076	9	0.07325	T	0.83	.	2.2232	0.03978	0.2323:0.0:0.2604:0.5072	.	54;28;87	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	L	87;54	ENSP00000329793:W87L;ENSP00000342340:W54L	ENSP00000329793:W87L	W	+	2	0	ZNF85	20923420	0.000000	0.05858	0.036000	0.18154	0.035000	0.12851	-2.184000	0.01254	-0.530000	0.06349	-0.538000	0.04264	TGG	-	NULL		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	protein_coding	OTTHUMT00000463430.1	G	NM_003429	-		21131580	1	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	SNP	0.001	T	T	21131580	G	T	21131580	3	4	106	1	0	0	0	0	1	0	0	0	18200	1357	47	3	274	3	ZNF85	19	21131580	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	4044678	21131580	37997403	116	7010											
GMFG	9535	genome.wustl.edu	37	chr19	39819656	39819656	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaacctttgtgagctctgctGtctgcaccagcctgttttta	9	11	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:39819656G>C	ENST00000597595.1	-	6	549	c.341C>G	c.(340-342)aCa>aGa	p.T114R	GMFG_ENST00000600322.1_Missense_Mutation_p.T81R|GMFG_ENST00000602185.1_Missense_Mutation_p.T65R|GMFG_ENST00000253054.8_Missense_Mutation_p.T81R|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Missense_Mutation_p.T73R|GMFG_ENST00000598034.1_Missense_Mutation_p.T114R|GMFG_ENST00000595636.1_3'UTR	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	114	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGCTCTGCTGTCTGCACCAG	0.562																																																	0								ENSG00000130755						191	159	170					19																	39819656		2203	4300	6503	GMFG	SO:0001583	missense	0			-	HGNC	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.341C>G	19.37:g.39819656G>C	ENSP00000472249:p.Thr114Arg	Somatic	0	41	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	Q6IB37	Missense_Mutation	SNP							pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.T114R	ENST00000597595.1	37	c.341	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194277	0.38806	.	.	ENSG00000130755	ENST00000253054	.	.	.	5.44	4.38	0.52667	Actin-binding, cofilin/tropomyosin type (3);	0.150560	0.43416	D	0.000579	T	0.68833	0.3044	M	0.74546	2.27	0.53688	D	0.999974	P;D	0.69078	0.903;0.997	B;P	0.60173	0.258;0.87	T	0.67027	-0.5774	9	0.19147	T	0.46	-15.0678	12.3569	0.55180	0.0838:0.0:0.9162:0.0	.	114;114	O60234;Q6IB37	GMFG_HUMAN;.	R	114	.	ENSP00000253054:T114R	T	-	2	0	GMFG	44511496	1.000000	0.71417	0.955000	0.39395	0.977000	0.68977	5.536000	0.67180	1.249000	0.43950	0.655000	0.94253	ACA	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.562	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	protein_coding	OTTHUMT00000463839.1	G		-		39819656	-1	no_errors	ENST00000597595	ensembl	human	known	74_37	missense	SNP	0.996	C	C	39819656	G	C	39819656	3	2	106	1	0	0	0	0	1	0	0	0	6492	1377	48	4	95	4	GMFG	19	39819656	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	18688076	39819656	19309327	117	7011											
BCAM	4059	genome.wustl.edu	37	chr19	45322125	45322125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcacccagaacttcaCgctgctggtccaaggttcag	10	15	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:45322125C>T	ENST00000270233.6	+	10	1344	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	BCAM_ENST00000589651.1_Missense_Mutation_p.T441M	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	441	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGAACTTCACGCTGCTGGTC	0.607																																																	0								ENSG00000187244						54	54	54					19																	45322125		2202	4300	6502	BCAM	SO:0001583	missense	0			-	HGNC	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1322C>T	19.37:g.45322125C>T	ENSP00000270233:p.Thr441Met	Somatic	0	41	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP							pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T441M	ENST00000270233.6	37	c.1322	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	11.35	1.611593	0.28712	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.10382	2.88;2.88	4.6	-3.37	0.04898	Immunoglobulin-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.29908	0.895	0.27245	N	0.959055	B	0.23249	0.082	B	0.12156	0.007	T	0.34304	-0.9834	9	0.46703	T	0.11	-3.8766	1.9123	0.03290	0.3656:0.1487:0.3518:0.1339	.	441	P50895	BCAM_HUMAN	M	441	ENSP00000270233:T441M;ENSP00000375817:T441M	ENSP00000270233:T441M	T	+	2	0	BCAM	50013965	0.019000	0.18553	0.708000	0.30435	0.383000	0.30230	-0.283000	0.08433	-1.140000	0.02877	-0.500000	0.04577	ACG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.607	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	protein_coding	OTTHUMT00000453220.1	C	NM_005581	-		45322125	1	no_errors	ENST00000270233	ensembl	human	known	74_37	missense	SNP	0.577	T	T	45322125	C	T	45322125	3	4	106	1	0	0	0	0	1	0	0	0	1344	536	19	1	1360	1	BCAM	19	45322125	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	5502469	45322125	13806858	118	7012											
GLTSCR2	29997	genome.wustl.edu	37	chr19	48248837	48248837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcggcaggaggcagtggCgttggtgggaagcgcagctc	20	8	0	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:48248837C>T	ENST00000246802.5	+	1	59	c.21C>T	c.(19-21)ggC>ggT	p.G7G	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	7						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GAGGCAGTGGCGTTGGTGGGA	0.647																																					Colon(58;613 1041 9473 10089 15241)												0								ENSG00000105373						92	103	99					19																	48248837		2203	4300	6503	GLTSCR2	SO:0001819	synonymous_variant	0			-	HGNC	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.21C>T	19.37:g.48248837C>T		Somatic	0	173	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	81	32.79	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP							pfam_P60-like,pirsf_Gltscr2	p.G7	ENST00000246802.5	37	c.21	CCDS12705.1	19																																																																																			-	pirsf_Gltscr2		0.647	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR2	protein_coding	OTTHUMT00000464870.1	C	NM_015710	-		48248837	1	no_errors	ENST00000246802	ensembl	human	known	74_37	silent	SNP	0.000	T	T	48248837	C	T	48248837	2	4	106	1	0	0	0	0	0	0	0	1	6477	755	27	1		1	GLTSCR2	19	48248837	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	2926712	48248837	10880146	119	7013											
TMEM150B	284417	genome.wustl.edu	37	chr19	55828306	55828306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcaaggaaggcccctGccaagtgcgtaggccgctgg	16	11	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr19:55828306G>A	ENST00000326652.4	-	7	535	c.353C>T	c.(352-354)gCa>gTa	p.A118V	TMEM150B_ENST00000438693.1_Missense_Mutation_p.A118V	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	118						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGGCCCCTGCCAAGTGCGT	0.627																																																	0								ENSG00000180061						30	33	32					19																	55828306		1927	4111	6038	TMEM150B	SO:0001583	missense	0			-	HGNC	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.353C>T	19.37:g.55828306G>A	ENSP00000320757:p.Ala118Val	Somatic	0	60	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B7ZW71	Missense_Mutation	SNP							pfam_Frag1/DRAM/Sfk1	p.A118V	ENST00000326652.4	37	c.353	CCDS42629.1	19	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.854365	0.00558	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.39406	1.08;1.08	5.15	-1.39	0.08997	.	1.073430	0.07175	N	0.853050	T	0.16171	0.0389	N	0.02830	-0.485	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.28332	-1.0047	10	0.08837	T	0.75	0.049	7.5643	0.27870	0.5377:0.0:0.4623:0.0	.	118	A6NC51	T150B_HUMAN	V	118	ENSP00000320757:A118V;ENSP00000412658:A118V	ENSP00000320757:A118V	A	-	2	0	TMEM150B	60520118	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.600000	0.24104	0.039000	0.15632	-0.291000	0.09656	GCA	-	pfam_Frag1/DRAM/Sfk1		0.627	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150B	protein_coding	OTTHUMT00000452685.1	G	NM_001085488	-		55828306	-1	no_errors	ENST00000326652	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55828306	G	A	55828306	3	1	106	1	0	0	0	0	1	0	0	0	16075	1319	46	2	356	2	TMEM150B	19	55828306	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	7579469	55828306	3300677	120	7014											
ZNF343	79175	genome.wustl.edu	37	chr20	2473378	2473378	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcctgtaattctccagcaTcacttctttgtatagattcc	4	11	3	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:2473378T>A	ENST00000278772.4	-	5	758	c.271A>T	c.(271-273)Atg>Ttg	p.M91L	ZNF343_ENST00000381253.1_Missense_Mutation_p.M91L|ZNF343_ENST00000358413.2_Missense_Mutation_p.M91L|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.M91L	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	91	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)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTCTCCAGCATCACTTCTTTG	0.403																																																	0								ENSG00000088876						241	222	228					20																	2473378		2203	4300	6503	ZNF343	SO:0001583	missense	0			-	HGNC	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.271A>T	20.37:g.2473378T>A	ENSP00000278772:p.Met91Leu	Somatic	0	49	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M91L	ENST00000278772.4	37	c.271	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554187	0.86231	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	3.96	0.234	0.15390	Krueppel-associated box (4);	.	.	.	.	T	0.14960	0.0361	M	0.86343	2.81	0.09310	N	0.999992	P	0.52463	0.953	D	0.68192	0.956	T	0.08330	-1.0727	9	0.48119	T	0.1	.	3.8105	0.08795	0.3291:0.0972:0.0:0.5736	.	91	Q6P1L6	ZN343_HUMAN	L	91	ENSP00000278772:M91L;ENSP00000399682:M91L;ENSP00000370652:M91L;ENSP00000351188:M91L;ENSP00000416488:M91L	ENSP00000443337:M91L	M	-	1	0	ZNF343	2421378	0.701000	0.27806	0.013000	0.15412	0.989000	0.77384	0.734000	0.26101	-0.071000	0.12886	0.477000	0.44152	ATG	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.403	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	protein_coding	OTTHUMT00000077617.1	T	NM_024325	-		2473378	-1	no_errors	ENST00000278772	ensembl	human	known	74_37	missense	SNP	0.468	A	A	2473378	T	A	2473378	3	1	106	1	0	0	0	0	1	0	0	0	17865	1435	50	5	1536	5	ZNF343	20	2473378	Missense_Mutation	SNP	T	TCGA-DX-A8BT-01A-11D-A37C-09		2473378	60552142	121	7015											
MAVS	57506	genome.wustl.edu	37	chr20	3842927	3842927	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcaagccctgcagacgctCagccccagagccatcccaag	10	17	1	2	rs201271837		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:3842927C>A	ENST00000428216.2	+	5	620	c.492C>A	c.(490-492)ctC>ctA	p.L164L	MAVS_ENST00000416600.2_Silent_p.L23L|MAVS_ENST00000358134.6_Missense_Mutation_p.Q107K	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	164					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCAGACGCTCAGCCCCAGAG	0.587																																																	0								ENSG00000088888						50	52	51					20																	3842927		2203	4300	6503	MAVS	SO:0001819	synonymous_variant	0			-	HGNC	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.492C>A	20.37:g.3842927C>A		Somatic	0	34	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP							NULL	p.Q107K	ENST00000428216.2	37	c.319	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	C	5.491	0.275554	0.10403	.	.	ENSG00000088888	ENST00000358134	T	0.10477	2.87	4.16	2.25	0.28309	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.50970	0.655	T	0.13150	-1.0520	8	0.09843	T	0.71	-0.8656	6.6742	0.23085	0.0:0.7878:0.0:0.2122	.	107	B2BD34	.	K	107	ENSP00000350852:Q107K	ENSP00000350852:Q107K	Q	+	1	0	MAVS	3790927	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.032000	0.30178	0.717000	0.32145	-0.126000	0.14955	CAG	-	NULL		0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	protein_coding	OTTHUMT00000077784.3	C	NM_020746	-		3842927	1	no_errors	ENST00000358134	ensembl	human	known	74_37	missense	SNP	0.001	A	A	3842927	C	A	3842927	2	1	106	1	0	0	0	0	0	0	0	1	9340	813	29	3		3	MAVS	20	3842927	Silent	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	1369549	3842927	59182593	122	7016											
KCNB1	3745	genome.wustl.edu	37	chr20	47990159	47990159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaactagagtgctggctGgcatcagggctggggttggc	17	7	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr20:47990159G>A	ENST00000371741.4	-	2	2104	c.1938C>T	c.(1936-1938)gcC>gcT	p.A646A		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	646					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGTGCTGGCTGGCATCAGGGC	0.572																																																	0								ENSG00000158445						45	46	46					20																	47990159		2203	4300	6503	KCNB1	SO:0001819	synonymous_variant	0			-	HGNC	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1938C>T	20.37:g.47990159G>A		Somatic	0	40	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q14193	Silent	SNP							pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.A646	ENST00000371741.4	37	c.1938	CCDS13418.1	20																																																																																			-	pfam_K_chnl_volt-dep_Kv2		0.572	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	protein_coding	OTTHUMT00000080374.3	G	NM_004975	-		47990159	-1	no_errors	ENST00000371741	ensembl	human	known	74_37	silent	SNP	0.182	A	A	47990159	G	A	47990159	2	1	106	1	0	0	0	0	0	0	0	1	8014	1335	47	2		2	KCNB1	20	47990159	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	44147232	47990159	15035361	123	7017											
CECR2	27443	genome.wustl.edu	37	chr22	18022400	18022400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttacagccacctccagtGccagcacccagttctttgtt	8	15	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr22:18022400G>A	ENST00000400585.2	+	16	2517	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	CECR2_ENST00000400573.5_Silent_p.V834V|CECR2_ENST00000262608.8_Silent_p.V835V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	876					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)		CACCTCCAGTGCCAGCACCCA	0.592																																																	0								ENSG00000099954						49	55	53					22																	18022400		2065	4188	6253	CECR2	SO:0001819	synonymous_variant	0			-	HGNC	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.2079G>A	22.37:g.18022400G>A		Somatic	0	56	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	23	54.72	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.V834	ENST00000400585.2	37	c.2502		22																																																																																			-	NULL		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	G	NM_031413	-		18022400	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	SNP	0.274	A	A	18022400	G	A	18022400	2	1	106	1	0	0	0	0	0	0	0	1	3208	1306	46	2		2	CECR2	22	18022400	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		18022400	33282166	124	7018											
THAP7	80764	genome.wustl.edu	37	chr22	21354499	21354499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggttcgagaggggagggCtgccgctctggtgaaggctg	20	8	1	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr22:21354499C>A	ENST00000215742.4	-	4	774	c.600G>T	c.(598-600)caG>caT	p.Q200H	THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.Q200H|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	200					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAGGGGAGGGCTGCCGCTCTG	0.652																																																	0								ENSG00000184436																																			THAP7	SO:0001583	missense	0			-	HGNC	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.600G>T	22.37:g.21354499C>A	ENSP00000215742:p.Gln200His	Somatic	0	20	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B2RD97|D3DX40	Missense_Mutation	SNP							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q200H	ENST00000215742.4	37	c.600	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606908	0.28623	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.95821	-3.82;-3.82	4.35	3.29	0.37713	.	0.316889	0.20862	N	0.084327	D	0.87740	0.6253	N	0.08118	0	0.25752	N	0.985042	B	0.02656	0.0	B	0.01281	0.0	T	0.79022	-0.1973	10	0.38643	T	0.18	-17.3454	10.0126	0.41995	0.0:0.7831:0.2169:0.0	.	200	Q9BT49	THAP7_HUMAN	H	200	ENSP00000215742:Q200H;ENSP00000382084:Q200H	ENSP00000215742:Q200H	Q	-	3	2	THAP7	19684499	0.278000	0.24230	0.889000	0.34880	0.957000	0.61999	0.478000	0.22212	1.115000	0.41800	0.655000	0.94253	CAG	-	NULL		0.652	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	protein_coding	OTTHUMT00000320405.1	C	NM_030573	-		21354499	-1	no_errors	ENST00000215742	ensembl	human	known	74_37	missense	SNP	0.970	A	A	21354499	C	A	21354499	3	1	106	1	0	0	0	0	1	0	0	0	15856	796	28	3	333	3	THAP7	22	21354499	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	3332099	21354499	29950067	125	7019											
ASPHD2	57168	genome.wustl.edu	37	chr22	26839163	26839163	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgatttcatctttgctccGggacgatgagagtatttccc	9	10	2	2	rs377666159		TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chr22:26839163G>T	ENST00000215906.5	+	4	1539	c.1101G>T	c.(1099-1101)ccG>ccT	p.P367P	HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	367					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.P341P(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCTTTGCTCCGGGACGATGAG	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000128203						97	101	100					22																	26839163		2203	4300	6503	ASPHD2	SO:0001819	synonymous_variant	0			-	HGNC	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.1101G>T	22.37:g.26839163G>T		Somatic	0	36	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP							pfam_Asp_Arg_b-Hydrxlase	p.P367	ENST00000215906.5	37	c.1101	CCDS13834.2	22																																																																																			-	NULL		0.597	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	protein_coding	OTTHUMT00000320422.1	G	NM_020437	-		26839163	1	no_errors	ENST00000215906	ensembl	human	known	74_37	silent	SNP	0.006	T	T	26839163	G	T	26839163	2	4	106	1	0	0	0	0	0	0	0	1	1055	1103	39	3		3	ASPHD2	22	26839163	Silent	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09	5484664	26839163	24465403	126	7020											
WNK3	65267	genome.wustl.edu	37	chrX	54263641	54263641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctttaagcaacagttcaGatccagactgcatgctactt	6	11	2	2			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:54263641G>A	ENST00000375159.2	-	19	4357	c.4358C>T	c.(4357-4359)tCt>tTt	p.S1453F	WNK3_ENST00000354646.2_Missense_Mutation_p.S1453F|WNK3_ENST00000375169.3_Missense_Mutation_p.S1406F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1453					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						CAACAGTTCAGATCCAGACTG	0.448																																																	0								ENSG00000196632						82	70	74					X																	54263641		2203	4300	6503	WNK3	SO:0001583	missense	0			-	HGNC	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.4358C>T	X.37:g.54263641G>A	ENSP00000364301:p.Ser1453Phe	Somatic	0	61	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	36	50.68	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S1453F	ENST00000375159.2	37	c.4358	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	2.266	-0.368026	0.05069	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71461	-0.56;-0.57;-0.57	5.1	2.22	0.28083	.	0.760567	0.11758	N	0.532360	T	0.55561	0.1928	L	0.27053	0.805	0.09310	N	1	P;P	0.38440	0.631;0.498	B;B	0.39904	0.313;0.166	T	0.46386	-0.9195	10	0.48119	T	0.1	-1.5407	4.5674	0.12193	0.268:0.0:0.5752:0.1567	.	1406;1453	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	1406;1453;1453	ENSP00000364312:S1406F;ENSP00000346667:S1453F;ENSP00000364301:S1453F	ENSP00000346667:S1453F	S	-	2	0	WNK3	54280366	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.988000	0.29616	0.406000	0.25560	-0.176000	0.13171	TCT	-	NULL		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	G	NM_020922	-		54263641	-1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	SNP	0.000	A	A	54263641	G	A	54263641	3	1	106	1	0	0	0	0	1	0	0	0	17386	942	33	2	1064	2	WNK3	23	54263641	Missense_Mutation	SNP	G	TCGA-DX-A8BT-01A-11D-A37C-09		54263641	101006919	127	7021											
PHKA1	5255	genome.wustl.edu	37	chrX	71800880	71800880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacagatgctgtggggcAggaactcctgcacgtaggtg	16	9	0	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:71800880A>C	ENST00000373542.4	-	32	3803	c.3644T>G	c.(3643-3645)cTg>cGg	p.L1215R	PHKA1_ENST00000541944.1_Missense_Mutation_p.L1143R|PHKA1_ENST00000373539.3_Missense_Mutation_p.L1232R|PHKA1_ENST00000373545.3_Missense_Mutation_p.L1173R|PHKA1_ENST00000339490.3_Missense_Mutation_p.L1202R	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1215					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCTGTGGGGCAGGAACTCCTG	0.562																																																	0								ENSG00000067177						75	57	63					X																	71800880		2203	4300	6503	PHKA1	SO:0001583	missense	0			-	HGNC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3644T>G	X.37:g.71800880A>C	ENSP00000362643:p.Leu1215Arg	Somatic	0	124	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	112	13.18	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L1232R	ENST00000373542.4	37	c.3695	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355570	0.82243	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.97087	0.9048	M	0.84683	2.71	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.991;0.996	D	0.97468	1.0039	10	0.87932	D	0	-5.0252	11.5812	0.50891	1.0:0.0:0.0:0.0	.	1143;1173;1202;1215	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	R	1173;1215;1143;1202;1232	ENSP00000362646:L1173R;ENSP00000362643:L1215R;ENSP00000441251:L1143R;ENSP00000342469:L1202R;ENSP00000362640:L1232R	ENSP00000342469:L1202R	L	-	2	0	PHKA1	71717605	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.855000	0.92236	1.634000	0.50500	0.437000	0.28790	CTG	-	NULL		0.562	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	protein_coding	OTTHUMT00000058896.1	A		-		71800880	-1	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71800880	A	C	71800880	3	2	106	1	0	0	0	0	1	0	0	0	11845	188	7	5	31	5	PHKA1	23	71800880	Missense_Mutation	SNP	A	TCGA-DX-A8BT-01A-11D-A37C-09	17537239	71800880	83469680	128	7022											
ATRX	546	genome.wustl.edu	37	chrX	76909587	76909587	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtaaatgtcattattaCcttgttttcactggatgaat	8	5	2	1			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:76909587C>T	ENST00000373344.5	-	14	4532		c.e14+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTCATTATTACCTTGTTTTCA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						236	200	212					X																	76909587		2203	4295	6498	ATRX	SO:0001630	splice_region_variant	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4317+1G>A	X.37:g.76909587C>T		Somatic	0	33	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP							-	e14+1	ENST00000373344.5	37	c.4317+1	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	19.63	3.863089	0.71949	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5589	0.56269	0.0:0.9151:0.0:0.0849	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76796243	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	4.803000	0.62546	2.332000	0.79248	0.502000	0.49764	.	-	-		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-	Intron	76909587	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	76909587	C	T	76909587	5	4	106	1	0	0	0	0	0	0	1	0	1208	521	18	2	3248	2	ATRX	23	76909587	Splice_Site	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	5108707	76909587	78360973	129	7023											
POF1B	79983	genome.wustl.edu	37	chrX	84560869	84560869	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccgtgtagtggttgccaatCtcatccattttagcctgcaa	8	11	1	0			TCGA-DX-A8BT-01A-11D-A37C-09	TCGA-DX-A8BT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68092db5-7dc6-4600-a753-460a962693ac	7e653b4b-2223-4e17-8e5f-6af07a25792d	g.chrX:84560869C>A	ENST00000262753.4	-	13	1510	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	POF1B_ENST00000373145.3_Missense_Mutation_p.E455D	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	455						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTTGCCAATCTCATCCATTT	0.388																																																	0								ENSG00000124429						195	164	175					X																	84560869		2203	4300	6503	POF1B	SO:0001583	missense	0			-	HGNC	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1365G>T	X.37:g.84560869C>A	ENSP00000262753:p.Glu455Asp	Somatic	0	51	0		0.596630349066819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP							NULL	p.E455D	ENST00000262753.4	37	c.1365	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676124	0.67928	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.21734	2.0;1.99	5.69	1.91	0.25777	.	0.045411	0.85682	N	0.000000	T	0.18130	0.0435	L	0.59436	1.845	0.41141	D	0.985956	B;B	0.19935	0.04;0.04	B;B	0.19666	0.026;0.026	T	0.05750	-1.0866	10	0.39692	T	0.17	.	5.3213	0.15883	0.0:0.5379:0.1372:0.3249	.	455;455	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	D	455	ENSP00000262753:E455D;ENSP00000362238:E455D	ENSP00000262753:E455D	E	-	3	2	POF1B	84447525	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.495000	0.22483	-0.042000	0.13535	0.600000	0.82982	GAG	-	NULL		0.388	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	protein_coding	OTTHUMT00000057391.2	C	NM_024921	-		84560869	-1	no_errors	ENST00000373145	ensembl	human	known	74_37	missense	SNP	0.999	A	A	84560869	C	A	84560869	3	1	106	1	0	0	0	0	1	0	0	0	12184	912	32	3	424	3	POF1B	23	84560869	Missense_Mutation	SNP	C	TCGA-DX-A8BT-01A-11D-A37C-09	7651282	84560869	70709691	130	7024											
UBR4	23352	genome.wustl.edu	37	chr1	19511667	19511667	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttactggggcttttaacccGaggagagctttccagtggag	13	9	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:19511667G>T	ENST00000375254.3	-	15	1891	c.1864C>A	c.(1864-1866)Cgg>Agg	p.R622R	UBR4_ENST00000375217.2_Silent_p.R622R|UBR4_ENST00000375226.2_Silent_p.R622R|UBR4_ENST00000375267.2_Silent_p.R622R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	622	Pro-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTTTAACCCGAGGAGAGCTT	0.527																																																	0								ENSG00000127481						144	164	157					1																	19511667		2203	4300	6503	UBR4	SO:0001819	synonymous_variant	0			-	HGNC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1864C>A	1.37:g.19511667G>T		Somatic	0	53	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	78	10.34	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP							superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R622	ENST00000375254.3	37	c.1864	CCDS189.1	1																																																																																			-	NULL		0.527	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	protein_coding	OTTHUMT00000007085.1	G	NM_020765	-		19511667	-1	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	SNP	0.990	T	T	19511667	G	T	19511667	2	4	107	1	0	0	0	0	0	0	0	1	16911	1057	37	3		3	UBR4	1	19511667	Silent	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		19511667	229738954	1	7025											
ARID1A	8289	genome.wustl.edu	37	chr1	27023189	27023189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgggcccggcgcggagccgGacctgaagaactcgaacggg	18	13	0	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:27023189G>T	ENST00000324856.7	+	1	666	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	ARID1A_ENST00000457599.2_Missense_Mutation_p.D99Y|RP5-968P14.2_ENST00000569378.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	99					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)	p.A96fs*11(1)	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)		CGCGGAGCCGGACCTGAAGAA	0.761			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000117713						1	1	1					1																	27023189		256	555	811	ARID1A	SO:0001583	missense	0			-	HGNC	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.295G>T	1.37:g.27023189G>T	ENSP00000320485:p.Asp99Tyr	Somatic	0	8	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D99Y	ENST00000324856.7	37	c.295	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751473	0.49257	.	.	ENSG00000117713	ENST00000324856;ENST00000457599	T;T	0.03152	4.27;4.03	2.45	2.45	0.29901	.	0.080236	0.45361	U	0.000371	T	0.03520	0.0101	N	0.19112	0.55	0.80722	D	1	D;D	0.58620	0.97;0.983	B;P	0.45506	0.29;0.483	T	0.55897	-0.8068	10	0.62326	D	0.03	-5.9142	10.5651	0.45167	0.0:0.0:1.0:0.0	.	99;99	O14497;O14497-2	ARI1A_HUMAN;.	Y	99	ENSP00000320485:D99Y;ENSP00000387636:D99Y	ENSP00000320485:D99Y	D	+	1	0	ARID1A	26895776	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.607000	0.54102	1.378000	0.46305	0.385000	0.25706	GAC	-	NULL		0.761	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	G	NM_139135	-		27023189	1	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27023189	G	T	27023189	3	4	107	1	0	0	0	0	1	0	0	0	913	1174	41	3	297	3	ARID1A	1	27023189	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	7511522	27023189	222227432	2	7026											
HPCAL4	51440	genome.wustl.edu	37	chr1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgcgcatcatgatcaCggtgcccaccatcttgtaga	9	12	4	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:40148381C>T	ENST00000372844.3	-	4	794	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	135					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATCATGATCACGGTGCCCACC	0.562																																																	0								ENSG00000116983						92	79	83					1																	40148381		2203	4300	6503	HPCAL4	SO:0001583	missense	0			-	HGNC	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.403G>A	1.37:g.40148381C>T	ENSP00000361935:p.Val135Met	Somatic	0	26	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V135M	ENST00000372844.3	37	c.403	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.554902	0.86231	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.67345	-0.26	4.54	4.54	0.55810	EF-hand-like domain (1);	0.000000	0.64402	D	0.000003	T	0.76737	0.4029	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.71656	0.974;0.564	T	0.76929	-0.2777	10	0.45353	T	0.12	.	18.1681	0.89734	0.0:1.0:0.0:0.0	.	63;135	B4DGW9;Q9UM19	.;HPCL4_HUMAN	M	135;127	ENSP00000361935:V135M	ENSP00000361935:V135M	V	-	1	0	HPCAL4	39920968	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.655000	0.83696	2.473000	0.83533	0.313000	0.20887	GTG	-	NULL		0.562	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	protein_coding	OTTHUMT00000025640.1	C	NM_016257	-		40148381	-1	no_errors	ENST00000372844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40148381	C	T	40148381	3	4	107	1	0	0	0	0	1	0	0	0	7333	536	19	1	176	1	HPCAL4	1	40148381	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	13125192	40148381	209102240	3	7027											
NRD1	114883	genome.wustl.edu	37	chr1	52254982	52254982	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatcagtaatggggatgaTacaatctgccagcagaggag	13	6	2	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:52254982T>C	ENST00000428468.1	+	0	2893				NRD1_ENST00000539524.1_Missense_Mutation_p.I1064V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.I1128V|NRD1_ENST00000354831.7_Missense_Mutation_p.I1196V			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGGGGATGATACAATCTGCC	0.448																																																	0								ENSG00000078618						162	148	153					1																	52254982		2203	4300	6503	NRD1	SO:0001628	intergenic_variant	0			-	HGNC	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52254982T>C		Somatic	0	38	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	41	52.87	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP							pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.I1196V	ENST00000428468.1	37	c.3586	CCDS41332.3	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.033|0.033	-1.323696|-1.323696	0.01309|0.01309	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665|ENST00000440943	T;T;T|.	0.28069|.	1.64;1.63;1.63|.	5.75|5.75	3.45|3.45	0.39498|0.39498	.|.	0.457798|.	0.26549|.	N|.	0.023747|.	T|T	0.09686|0.09686	0.0238|0.0238	N|N	0.01352|0.01352	-0.895|-0.895	0.22342|0.22342	N|N	0.999189|0.999189	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.31223|0.31223	-0.9951|-0.9951	10|5	0.12766|.	T|.	0.61|.	-0.4007|-0.4007	8.491|8.491	0.33100|0.33100	0.0:0.2906:0.0:0.7094|0.0:0.2906:0.0:0.7094	.|.	1127;1196|.	O43847;B1AKJ5|.	NRDC_HUMAN;.|.	V|C	1128;1196;1064;530|514	ENSP00000262679:I1128V;ENSP00000346890:I1196V;ENSP00000444416:I1064V|.	ENSP00000262679:I1128V|.	I|Y	-|-	1|2	0|0	NRD1|NRD1	52027570|52027570	0.072000|0.072000	0.21174|0.21174	0.495000|0.495000	0.27527|0.27527	0.856000|0.856000	0.48823|0.48823	0.397000|0.397000	0.20883|0.20883	0.464000|0.464000	0.27142|0.27142	-0.911000|-0.911000	0.02809|0.02809	ATC|TAT	-	NULL		0.448	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	protein_coding	OTTHUMT00000022584.4	T		-		52254982	-1	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	SNP	0.022	C	C	52254982	T	C	52254982	1	2	107	0	1	0	0	0	0	0	0	0	10647	1406	49	5		5	NRD1	1	52254982	IGR	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09	12106601	52254982	196995639	4	7028											
CTTNBP2NL	55917	genome.wustl.edu	37	chr1	113000026	113000026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagttacttttgcctaccAgcagctagtccctaggaggg	11	10	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:113000026A>T	ENST00000271277.6	+	6	2137	c.1912A>T	c.(1912-1914)Agc>Tgc	p.S638C	CTTNBP2NL_ENST00000607039.1_Intron	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	638					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)		TTTGCCTACCAGCAGCTAGTC	0.458																																																	0								ENSG00000143079						76	68	71					1																	113000026		2203	4300	6503	CTTNBP2NL	SO:0001583	missense	0			-	HGNC	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.1912A>T	1.37:g.113000026A>T	ENSP00000271277:p.Ser638Cys	Somatic	0	38	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B3KMS5|Q96B40	Missense_Mutation	SNP							pfam_Cortactin-binding_p2_N	p.S638C	ENST00000271277.6	37	c.1912	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611508	0.46631	.	.	ENSG00000143079	ENST00000271277	T	0.26373	1.74	5.78	5.78	0.91487	.	0.166314	0.64402	D	0.000003	T	0.20129	0.0484	L	0.27053	0.805	0.46954	D	0.999261	D	0.69078	0.997	P	0.57283	0.817	T	0.04781	-1.0927	10	0.87932	D	0	-17.8347	10.1841	0.42986	0.9252:0.0:0.0748:0.0	.	638	Q9P2B4	CT2NL_HUMAN	C	638	ENSP00000271277:S638C	ENSP00000271277:S638C	S	+	1	0	CTTNBP2NL	112801549	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.794000	0.62482	2.212000	0.71576	0.374000	0.22700	AGC	-	NULL		0.458	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	protein_coding	OTTHUMT00000030686.1	A	NM_018704	-		113000026	1	no_errors	ENST00000271277	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113000026	A	T	113000026	3	4	107	1	0	0	0	0	1	0	0	0	4048	188	7	5	1926	5	CTTNBP2NL	1	113000026	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	60745044	113000026	136250595	5	7029											
TCHH	7062	genome.wustl.edu	37	chr1	152084915	152084915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggctcctcttcctgcaActtctcttcttccttccgga	6	17	3	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:152084915A>G	ENST00000368804.1	-	2	777	c.778T>C	c.(778-780)Ttg>Ctg	p.L260L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	260					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTGCAACTTCTCTTCT	0.587																																																	0								ENSG00000159450						111	126	121					1																	152084915		2096	4213	6309	TCHH	SO:0001819	synonymous_variant	0			-	HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.778T>C	1.37:g.152084915A>G		Somatic	0	31	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	27	57.14	Q5VUI3	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.L260	ENST00000368804.1	37	c.778	CCDS41396.1	1																																																																																			-	NULL		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	A	NM_007113	-		152084915	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	silent	SNP	0.000	G	G	152084915	A	G	152084915	2	3	107	1	0	0	0	0	0	0	0	1	15707	40	2	5		5	TCHH	1	152084915	Silent	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	39084889	152084915	97165706	6	7030											
ADAM15	8751	genome.wustl.edu	37	chr1	155030370	155030370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctaccagaggggattGtgacttgcctgaattctgcc	11	11	1	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:155030370G>T	ENST00000356955.2	+	14	1561	c.1460G>T	c.(1459-1461)tGt>tTt	p.C487F	ADAM15_ENST00000449910.2_Missense_Mutation_p.C487F|ADAM15_ENST00000447332.3_Missense_Mutation_p.C471F|ADAM15_ENST00000359280.4_Missense_Mutation_p.C487F|ADAM15_ENST00000360674.4_Missense_Mutation_p.C487F|ADAM15_ENST00000368413.1_Missense_Mutation_p.C193F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.C487F|ADAM15_ENST00000368412.3_Missense_Mutation_p.C487F|ADAM15_ENST00000271836.6_Missense_Mutation_p.C487F|ADAM15_ENST00000368410.2_Missense_Mutation_p.C193F|ADAM15_ENST00000531455.1_Missense_Mutation_p.C497F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	487	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGAGGGGATTGTGACTTGCCT	0.632																																																	0								ENSG00000143537						122	123	123					1																	155030370		2203	4300	6503	ADAM15	SO:0001583	missense	0			-	HGNC	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1460G>T	1.37:g.155030370G>T	ENSP00000349436:p.Cys487Phe	Somatic	0	37	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.C487F	ENST00000356955.2	37	c.1460	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414164	0.83449	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.06	5.06	0.68205	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.44688	D	0.000438	T	0.59348	0.2187	H	0.98996	4.395	0.80722	D	1	D;D;D;P;P;P;P;P;P;P;P	0.67145	0.979;0.979;0.996;0.757;0.847;0.949;0.912;0.912;0.847;0.796;0.929	P;P;D;P;P;P;P;P;P;P;P	0.70227	0.905;0.905;0.968;0.787;0.787;0.847;0.847;0.847;0.847;0.865;0.905	T	0.76780	-0.2833	10	0.87932	D	0	.	16.0444	0.80711	0.0:0.0:1.0:0.0	.	497;504;471;487;487;487;487;487;487;487;484	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	F	487;487;487;487;487;487;193;487;193;497	ENSP00000349436:C487F;ENSP00000403843:C487F;ENSP00000352226:C487F;ENSP00000353892:C487F;ENSP00000357397:C487F;ENSP00000348227:C487F;ENSP00000357395:C193F;ENSP00000271836:C487F;ENSP00000357398:C193F;ENSP00000432927:C497F	ENSP00000271836:C487F	C	+	2	0	ADAM15	153296994	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	8.224000	0.89781	2.639000	0.89480	0.650000	0.86243	TGT	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	protein_coding	OTTHUMT00000387168.1	G	NM_003815	-		155030370	1	no_errors	ENST00000356955	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155030370	G	T	155030370	3	4	107	1	0	0	0	0	1	0	0	0	237	1377	48	3	1514	3	ADAM15	1	155030370	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	2945455	155030370	94220251	7	7031											
PYHIN1	149628	genome.wustl.edu	37	chr1	158906932	158906932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaataccaacactgggagacCttgctgaaactcttaaaaga	7	9	1	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr1:158906932C>A	ENST00000368140.1	+	2	477	c.232C>A	c.(232-234)Ctt>Att	p.L78I	PYHIN1_ENST00000392252.3_Missense_Mutation_p.L78I|PYHIN1_ENST00000368138.3_Missense_Mutation_p.L78I|PYHIN1_ENST00000368135.4_Missense_Mutation_p.L78I|PYHIN1_ENST00000392254.2_Missense_Mutation_p.L78I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	78	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTGGGAGACCTTGCTGAAAC	0.433																																																	0								ENSG00000163564						57	58	58					1																	158906932		2203	4300	6503	PYHIN1	SO:0001583	missense	0			-	HGNC	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.232C>A	1.37:g.158906932C>A	ENSP00000357122:p.Leu78Ile	Somatic	0	43	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	54	12.90	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP							pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.L78I	ENST00000368140.1	37	c.232	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195862	0.06259	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	2.83	-5.66	0.02451	Pyrin (2);	.	.	.	.	T	0.22437	0.0541	N	0.26130	0.795	0.09310	N	1	B;P;B;P;B	0.39003	0.235;0.602;0.235;0.654;0.22	B;B;B;B;B	0.42138	0.131;0.259;0.131;0.377;0.069	T	0.19614	-1.0300	9	0.21014	T	0.42	.	14.0587	0.64786	0.8421:0.1579:0.0:0.0	.	78;78;78;78;78	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	I	78	ENSP00000407616:L78I;ENSP00000357122:L78I;ENSP00000357120:L78I;ENSP00000376083:L78I;ENSP00000376082:L78I;ENSP00000357117:L78I	ENSP00000357117:L78I	L	+	1	0	PYHIN1	157173556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.064000	0.03461	-2.463000	0.00535	-0.457000	0.05445	CTT	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.433	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	protein_coding	OTTHUMT00000090110.1	C	NM_152501	-		158906932	1	no_errors	ENST00000368140	ensembl	human	known	74_37	missense	SNP	0.000	A	A	158906932	C	A	158906932	3	1	107	1	0	0	0	0	1	0	0	0	12873	681	24	3	234	3	PYHIN1	1	158906932	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	3876562	158906932	90343689	8	7032											
HADHA	3030	genome.wustl.edu	37	chr2	26459850	26459850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtagctctttactcagtgTatttacctgccaaagggaaa	8	8	2	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:26459850T>C	ENST00000380649.3	-	4	316	c.187A>G	c.(187-189)Aca>Gca	p.T63A	HADHA_ENST00000457468.2_Intron|HADHA_ENST00000461025.1_5'Flank	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	63					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)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTCAGTGTATTTACCTGC	0.368																																																	0								ENSG00000084754						85	83	84					2																	26459850		2203	4300	6503	HADHA	SO:0001583	missense	0			-	HGNC	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.187A>G	2.37:g.26459850T>C	ENSP00000370023:p.Thr63Ala	Somatic	0	43	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP							pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit	p.T63A	ENST00000380649.3	37	c.187	CCDS1721.1	2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968115	0.74131	.	.	ENSG00000084754	ENST00000380649	T	0.63744	-0.06	5.78	5.78	0.91487	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	N	0.20610	0.595	0.80722	D	1	P	0.52316	0.952	P	0.52957	0.714	T	0.65146	-0.6239	10	0.72032	D	0.01	-28.2116	14.051	0.64736	0.0:0.0:0.0:1.0	.	63	P40939	ECHA_HUMAN	A	63	ENSP00000370023:T63A	ENSP00000370023:T63A	T	-	1	0	HADHA	26313354	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	5.890000	0.69774	2.210000	0.71456	0.482000	0.46254	ACA	-	pfam_Crotonase_core_superfam,tigrfam_Fa_ox_alpha_mit		0.368	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	protein_coding	OTTHUMT00000214051.1	T	NM_000182	-		26459850	-1	no_errors	ENST00000380649	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26459850	T	C	26459850	3	2	107	1	0	0	0	0	1	0	0	0	6945	1638	57	5	2172	5	HADHA	2	26459850	Missense_Mutation	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09		26459850	216739523	9	7033											
GALNT14	79623	genome.wustl.edu	37	chr2	31215825	31215825	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttttggcattcagataccGccgctcatcaaactggtccc	7	14	3	1	rs148056182		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:31215825G>T	ENST00000349752.5	-	2	817	c.178C>A	c.(178-180)Cgg>Agg	p.R60R	GALNT14_ENST00000356174.3_Silent_p.R60R|GALNT14_ENST00000406653.1_Silent_p.R40R|AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000420311.2_Silent_p.R25R|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	60					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTCAGATACCGCCGCTCATCA	0.572																																																	0								ENSG00000158089						92	79	84					2																	31215825		2203	4300	6503	GALNT14	SO:0001819	synonymous_variant	0			-	HGNC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.178C>A	2.37:g.31215825G>T		Somatic	0	45	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R60	ENST00000349752.5	37	c.178	CCDS1773.2	2																																																																																			-	NULL		0.572	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	G	NM_024572	-		31215825	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	silent	SNP	0.957	T	T	31215825	G	T	31215825	2	4	107	1	0	0	0	0	0	0	0	1	6214	1086	38	3		3	GALNT14	2	31215825	Silent	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	4755975	31215825	211983548	10	7034											
LHCGR	3973	genome.wustl.edu	37	chr2	48982775	48982777	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgcagcagcagcagcagCttcagcagctgcagcgccga							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:48982775_48982777delCTT	ENST00000294954.7	-	1	55_57	c.34_36delAAG	c.(34-36)aagdel	p.K12del	LHCGR_ENST00000405626.1_In_Frame_Del_p.K12del|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_In_Frame_Del_p.K12del|LHCGR_ENST00000401907.1_In_Frame_Del_p.K12del|LHCGR_ENST00000403273.1_In_Frame_Del_p.K12del	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	12					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)	gcagcagcagcttcagcagctgc	0.724																																																	0								ENSG00000138039		,	73,1487		30,13,737					,	-7.5	0		dbSNP_130	2	150,3028		37,76,1476	no	intron,coding	LHCGR,STON1-GTF2A1L	NM_001198593.1,NM_000233.3	,	67,89,2213	A1A1,A1R,RR		4.7199,4.6795,4.7066	,	,		223,4515				LHCGR	SO:0001651	inframe_deletion	0				HGNC		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.34_36delAAG	2.37:g.48982775_48982777delCTT	ENSP00000294954:p.Lys12del	Somatic	0	25	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q14751|Q15996|Q9UEW9	In_Frame_Del	DEL							pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.K12in_frame_del	ENST00000294954.7	37	c.36_34	CCDS1842.1	2																																																																																			-	prints_TSH_rcpt		0.724	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	CTT	NM_000233.3			48982777	-1	no_errors	ENST00000294954	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000	-	-	48982777	CTT	-	48982775	7	5	107	1	0	1	0	1	0	0	0	0	8764	796	28	0	2107	0	LHCGR	2	48982775	In_Frame_Del	DEL	CTT	TCGA-DX-A8BU-01A-11D-A37C-09	17766950	48982775	194216598	11	7035											
LCT	3938	genome.wustl.edu	37	chr2	136575391	136575391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcgtggatcccagatGctcacccctctcccaccctc	8	20	2	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:136575391G>T	ENST00000264162.2	-	6	1237	c.1227C>A	c.(1225-1227)agC>agA	p.S409R	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	409	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GATCCCAGATGCTCACCCCTC	0.632																																																	0								ENSG00000115850						68	69	69					2																	136575391		2203	4300	6503	LCT	SO:0001583	missense	0			-	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1227C>A	2.37:g.136575391G>T	ENSP00000264162:p.Ser409Arg	Somatic	0	64	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	39	42.65	Q4ZG58	Missense_Mutation	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.S409R	ENST00000264162.2	37	c.1227	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141038	0.77775	.	.	ENSG00000115850	ENST00000264162	T	0.39997	1.05	5.77	1.81	0.25067	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.097978	0.64402	D	0.000001	T	0.68613	0.3020	H	0.97158	3.95	0.33046	D	0.532136	D	0.56968	0.978	P	0.58577	0.841	T	0.79911	-0.1603	10	0.72032	D	0.01	-26.8842	10.4388	0.44452	0.351:0.0:0.649:0.0	.	409	P09848	LPH_HUMAN	R	409	ENSP00000264162:S409R	ENSP00000264162:S409R	S	-	3	2	LCT	136291861	0.960000	0.32886	0.710000	0.30468	0.028000	0.11728	0.541000	0.23207	0.408000	0.25621	-0.140000	0.14226	AGC	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.632	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	G	NM_002299	-		136575391	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136575391	G	T	136575391	3	4	107	1	0	0	0	0	1	0	0	0	8695	1310	46	3	4604	3	LCT	2	136575391	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	87592616	136575391	106623982	12	7036											
KYNU	8942	genome.wustl.edu	37	chr2	143798011	143798011	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagatctttaagcaagcGacaatgaaggcattgcggaa	10	9	1	2	rs576501053		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:143798011G>A	ENST00000264170.4	+	13	1314	c.1056G>A	c.(1054-1056)gcG>gcA	p.A352A	KYNU_ENST00000409512.1_Silent_p.A352A	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTAAGCAAGCGACAATGAAGG	0.343													G|||	1	0.000199681	0	0	5008	,	,		19592	0.001		0	False		,,,				2504	0																0								ENSG00000115919						76	75	75					2																	143798011		2203	4299	6502	KYNU	SO:0001819	synonymous_variant	0			-	HGNC	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1056G>A	2.37:g.143798011G>A		Somatic	0	43	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50		Silent	SNP							pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	p.A352	ENST00000264170.4	37	c.1056	CCDS2183.1	2																																																																																			-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase		0.343	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	protein_coding	OTTHUMT00000254772.1	G	NM_001032998	-		143798011	1	no_errors	ENST00000264170	ensembl	human	known	74_37	silent	SNP	0.989	A	A	143798011	G	A	143798011	2	1	107	1	0	0	0	0	0	0	0	1	8589	1045	37	1		1	KYNU	2	143798011	Silent	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	7222620	143798011	99401362	13	7037											
NEB	4703	genome.wustl.edu	37	chr2	152582033	152582033	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgttgtgctggcgtaTggctgtccttttgttttctc	11	8	2	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:152582033T>G	ENST00000172853.10	-	6	483	c.336A>C	c.(334-336)ccA>ccC	p.P112P	NEB_ENST00000409198.1_Silent_p.P112P|NEB_ENST00000427231.2_Silent_p.P112P|NEB_ENST00000397345.3_Silent_p.P112P|NEB_ENST00000604864.1_Silent_p.P112P|NEB_ENST00000603639.1_Silent_p.P112P			P20929	NEBU_HUMAN	nebulin	112					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)		TGCTGGCGTATGGCTGTCCTT	0.393																																																	0								ENSG00000183091						234	225	228					2																	152582033		1896	4115	6011	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.336A>C	2.37:g.152582033T>G		Somatic	0	74	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	46	43.21	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P112	ENST00000172853.10	37	c.336		2																																																																																			-	pfscan_Nebulin_35r-motif		0.393	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		T	NM_004543	-		152582033	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.848	G	G	152582033	T	G	152582033	2	3	107	1	0	0	0	0	0	0	0	1	10304	1451	51	5		5	NEB	2	152582033	Silent	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09	8784022	152582033	90617340	14	7038											
GPD2	2820	genome.wustl.edu	37	chr2	157413987	157413987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaagatgacgatcgctgGcactactgatactccaactg	9	11	0	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:157413987G>T	ENST00000310454.6	+	9	1430	c.1058G>T	c.(1057-1059)gGc>gTc	p.G353V	GPD2_ENST00000409125.4_Missense_Mutation_p.G126V|GPD2_ENST00000438166.2_Missense_Mutation_p.G353V|GPD2_ENST00000540309.1_Missense_Mutation_p.G353V|GPD2_ENST00000409674.1_Missense_Mutation_p.G353V	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	353					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACGATCGCTGGCACTACTGAT	0.438																																																	0								ENSG00000115159						124	108	113					2																	157413987		2203	4300	6503	GPD2	SO:0001583	missense	0			-	HGNC		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1058G>T	2.37:g.157413987G>T	ENSP00000308610:p.Gly353Val	Somatic	0	40	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.33	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.G353V	ENST00000310454.6	37	c.1058	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.136552	0.94517	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	5.7	5.7	0.88788	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98461	1.0596	10	0.87932	D	0	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	353	P43304	GPDM_HUMAN	V	353;126;353;353;353	ENSP00000308610:G353V;ENSP00000386484:G126V;ENSP00000409708:G353V;ENSP00000440892:G353V;ENSP00000386425:G353V	ENSP00000308610:G353V	G	+	2	0	GPD2	157122233	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	GGC	-	pfam_FAD-dep_OxRdtase		0.438	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	protein_coding	OTTHUMT00000254910.3	G		-		157413987	1	no_errors	ENST00000310454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	157413987	G	T	157413987	3	4	107	1	0	0	0	0	1	0	0	0	6608	1203	42	3	1088	3	GPD2	2	157413987	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	4831954	157413987	85785386	15	7039											
DAPL1	92196	genome.wustl.edu	37	chr2	159651908	159651908	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatgaagtgcaagacctGctctcccctcggaaaggggg	13	11	1	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:159651908G>C	ENST00000309950.3	+	1	80	c.24G>C	c.(22-24)ctG>ctC	p.L8L	DAPL1_ENST00000409042.1_Silent_p.L8L	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	8					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						TGCAAGACCTGCTCTCCCCTC	0.627																																																	0								ENSG00000163331						73	44	54					2																	159651908		2189	4270	6459	DAPL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.24G>C	2.37:g.159651908G>C		Somatic	0	51	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00	A0PJW9|B9EIK6	Silent	SNP							NULL	p.L8	ENST00000309950.3	37	c.24	CCDS33307.1	2																																																																																			-	NULL		0.627	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPL1	protein_coding	OTTHUMT00000333265.1	G	NM_001017920	-		159651908	1	no_errors	ENST00000309950	ensembl	human	known	74_37	silent	SNP	0.967	C	C	159651908	G	C	159651908	2	2	107	1	0	0	0	0	0	0	0	1	4240	1306	46	4		4	DAPL1	2	159651908	Silent	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	2237921	159651908	83547465	16	7040											
NBEAL1	65065	genome.wustl.edu	37	chr2	203977921	203977921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgattaccaaattgataTcagctggaacccaagacagt	7	8	1	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr2:203977921T>C	ENST00000449802.1	+	16	2632	c.2299T>C	c.(2299-2301)Tca>Cca	p.S767P		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	767										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						CAAATTGATATCAGCTGGAAC	0.448																																																	0								ENSG00000144426						128	124	125					2																	203977921		692	1591	2283	NBEAL1	SO:0001583	missense	0			-	HGNC	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.2299T>C	2.37:g.203977921T>C	ENSP00000399903:p.Ser767Pro	Somatic	0	53	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S767P	ENST00000449802.1	37	c.2299	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914614	0.52546	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.51325	0.71	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);	.	.	.	.	T	0.50120	0.1597	N	0.15975	0.35	0.53688	D	0.999979	D	0.89917	1.0	D	0.75484	0.986	T	0.49254	-0.8959	9	0.26408	T	0.33	.	14.7631	0.69619	0.0:0.0:0.0:1.0	.	767	Q6ZS30	NBEL1_HUMAN	P	767	ENSP00000399903:S767P	ENSP00000344985:S767P	S	+	1	0	NBEAL1	203686166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.831000	0.69330	2.018000	0.59344	0.528000	0.53228	TCA	-	superfamily_ConA-like_lec_gl_sf		0.448	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	protein_coding	OTTHUMT00000333982.4	T		-		203977921	1	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	SNP	1.000	C	C	203977921	T	C	203977921	3	2	107	1	0	0	0	0	1	0	0	0	10190	1435	50	5	2357	5	NBEAL1	2	203977921	Missense_Mutation	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09	44326013	203977921	39221452	17	7041											
DLEC1	9940	genome.wustl.edu	37	chr3	38135096	38135096	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacttactctactttggcagGaattgggcagctgattgctt	10	9	1	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr3:38135096G>T	ENST00000308059.6	+	12	1778	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	DLEC1_ENST00000346219.3_Splice_Site_p.G586V|DLEC1_ENST00000452631.2_Splice_Site_p.G586V					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACTTTGGCAGGAATTGGGCAG	0.517																																																	0								ENSG00000008226						96	96	96					3																	38135096		1975	4146	6121	DLEC1	SO:0001630	splice_region_variant	0			-	HGNC	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1757-1G>T	3.37:g.38135096G>T		Somatic	0	53	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03		Missense_Mutation	SNP							superfamily_PapD-like	p.G586V	ENST00000308059.6	37	c.1757	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290775	0.80914	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.36878	1.23;1.24;1.46	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.80422	2.495	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	T	0.65195	-0.6227	9	.	.	.	.	15.4156	0.74966	0.0:0.0:1.0:0.0	.	586;586;586	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	V	586	ENSP00000308597:G586V;ENSP00000315914:G586V;ENSP00000410427:G586V	.	G	+	2	0	DLEC1	38110100	1.000000	0.71417	0.960000	0.40013	0.898000	0.52572	8.359000	0.90093	2.347000	0.79759	0.655000	0.94253	GGA	-	NULL		0.517	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	protein_coding	OTTHUMT00000253745.3	G	NM_007337	-	Missense_Mutation	38135096	1	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	SNP	0.999	T	T	38135096	G	T	38135096	5	4	107	1	0	0	0	0	0	0	1	0	4554	1188	41	3	1803	3	DLEC1	3	38135096	Splice_Site	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		38135096	159887334	18	7042											
OXSR1	9943	genome.wustl.edu	37	chr3	38271909	38271909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaccaaccatttctgaAagagcaaaaaaggtaaatca	7	8	2	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr3:38271909A>G	ENST00000446845.1	+	10	1311	c.939A>G	c.(937-939)gaA>gaG	p.E313E	OXSR1_ENST00000311806.3_Silent_p.E313E					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCATTTCTGAAAGAGCAAAAA	0.279																																																	0								ENSG00000172939						63	77	72					3																	38271909		2203	4291	6494	OXSR1	SO:0001819	synonymous_variant	0			-	HGNC	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.939A>G	3.37:g.38271909A>G		Somatic	0	49	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E313	ENST00000446845.1	37	c.939		3																																																																																			-	superfamily_Kinase-like_dom		0.279	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	protein_coding	OTTHUMT00000342708.1	A	NM_005109	-		38271909	1	no_errors	ENST00000311806	ensembl	human	known	74_37	silent	SNP	1.000	G	G	38271909	A	G	38271909	2	3	107	1	0	0	0	0	0	0	0	1	11338	11	1	5		5	OXSR1	3	38271909	Silent	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	136813	38271909	159750521	19	7043											
KIAA1407	57577	genome.wustl.edu	37	chr3	113729865	113729865	+	Frame_Shift_Del	DEL	T	T	-													tactcagtggccagttgttgTtttctaagcaacaaagcact							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr3:113729865delT	ENST00000295878.3	-	9	1313	c.1167delA	c.(1165-1167)aaafs	p.K389fs	KIAA1407_ENST00000545063.1_Frame_Shift_Del_p.K220fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	389										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CCAGTTGTTGTTTTCTAAGCA	0.398																																																	0								ENSG00000163617						131	128	129					3																	113729865		2203	4300	6503	KIAA1407	SO:0001589	frameshift_variant	0				HGNC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1167delA	3.37:g.113729865delT	ENSP00000295878:p.Lys389fs	Somatic	0	26	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	B4DYL1|Q9P2E0	Frame_Shift_Del	DEL							NULL	p.K389fs	ENST00000295878.3	37	c.1167	CCDS2977.1	3																																																																																			-	NULL		0.398	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	protein_coding	OTTHUMT00000354724.2	T	NM_020817			113729865	-1	no_errors	ENST00000295878	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	113729865	T	-	113729865	7	5	107	1	0	1	0	1	0	0	0	0	8231	1722	60	0	1679	0	KIAA1407	3	113729865	Frame_Shift_Del	DEL	T	TCGA-DX-A8BU-01A-11D-A37C-09	75457956	113729865	84292565	20	7044											
MYLK	4638	genome.wustl.edu	37	chr3	123457850	123457850	+	Missense_Mutation	SNP	G	G	T													ccagcttggtagcaaactttGgtgggcactccccccagatg							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr3:123457850G>T	ENST00000475616.1	-	4	481	c.482C>A	c.(481-483)cCa>cAa	p.P161Q	MYLK_ENST00000346322.5_Missense_Mutation_p.P161Q|MYLK_ENST00000360304.3_Missense_Mutation_p.P161Q|MYLK_ENST00000359169.1_Missense_Mutation_p.P161Q|MYLK_ENST00000360772.3_Missense_Mutation_p.P161Q			Q15746	MYLK_HUMAN	myosin light chain kinase	161	Ig-like C2-type 2.				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)		AGCAAACTTTGGTGGGCACTC	0.562																																																	0								ENSG00000065534						73	62	66					3																	123457850		2203	4300	6503	MYLK	SO:0001583	missense	0			-	HGNC	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.482C>A	3.37:g.123457850G>T	ENSP00000418335:p.Pro161Gln	Somatic	0	60	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	59	31.03	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P161Q	ENST00000475616.1	37	c.482	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651110	0.88056	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	4.52	4.52	0.55395	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97829	0.9287	H	0.98901	4.365	0.80722	D	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	0.97110	0.992;1.0;0.999;0.992;0.999;0.996	D	0.99282	1.0896	9	0.87932	D	0	.	16.5127	0.84290	0.0:0.0:1.0:0.0	.	161;161;161;161;161;161	Q15746-6;Q15746-5;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	Q	161	ENSP00000354004:P161Q;ENSP00000353452:P161Q;ENSP00000352088:P161Q;ENSP00000320622:P161Q;ENSP00000418335:P161Q	ENSP00000320622:P161Q	P	-	2	0	MYLK	124940540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.180000	0.89694	2.497000	0.84241	0.655000	0.94253	CCA	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	protein_coding	OTTHUMT00000356464.1	G	NM_053025	-		123457850	-1	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123457850	G	T	123457850	3	4	107	1	0	0	0	0	1	0	0	0	10058	1348	47	3	5374	3	MYLK	3	123457850	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	9727985	123457850	74564580	21	7045	105	2									
MYLK	4638	genome.wustl.edu	37	chr3	123457851	123457851	+	Missense_Mutation	SNP	G	G	T													cagcttggtagcaaactttgGtgggcactccccccagatgc							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr3:123457851G>T	ENST00000475616.1	-	4	480	c.481C>A	c.(481-483)Cca>Aca	p.P161T	MYLK_ENST00000346322.5_Missense_Mutation_p.P161T|MYLK_ENST00000360304.3_Missense_Mutation_p.P161T|MYLK_ENST00000359169.1_Missense_Mutation_p.P161T|MYLK_ENST00000360772.3_Missense_Mutation_p.P161T			Q15746	MYLK_HUMAN	myosin light chain kinase	161	Ig-like C2-type 2.				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)	p.P161S(1)		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)		GCAAACTTTGGTGGGCACTCC	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000065534						73	62	66					3																	123457851		2203	4300	6503	MYLK	SO:0001583	missense	0			-	HGNC	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.481C>A	3.37:g.123457851G>T	ENSP00000418335:p.Pro161Thr	Somatic	0	58	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	62	29.55	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P161T	ENST00000475616.1	37	c.481	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533637	0.85812	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.52	4.52	0.55395	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97829	0.9287	H	0.98901	4.365	0.80722	D	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	0.91635	0.988;0.999;0.998;0.988;0.998;0.993	D	0.99282	1.0896	9	0.87932	D	0	.	16.5127	0.84290	0.0:0.0:1.0:0.0	.	161;161;161;161;161;161	Q15746-6;Q15746-5;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	161	ENSP00000354004:P161T;ENSP00000353452:P161T;ENSP00000352088:P161T;ENSP00000320622:P161T;ENSP00000418335:P161T	ENSP00000320622:P161T	P	-	1	0	MYLK	124940541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.180000	0.89694	2.497000	0.84241	0.655000	0.94253	CCA	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	protein_coding	OTTHUMT00000356464.1	G	NM_053025	-		123457851	-1	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123457851	G	T	123457851	3	4	107	1	0	0	0	0	1	0	0	0	10058	1261	44	3	5375	3	MYLK	3	123457851	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	1	123457851	74564579	22	7046	105	2									
CLSTN2	64084	genome.wustl.edu	37	chr3	140281713	140281713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgctaccgcaactggcGtccggcttcccttgaggccc	10	18	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr3:140281713G>A	ENST00000458420.3	+	14	2463	c.2273G>A	c.(2272-2274)cGt>cAt	p.R758H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	758					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGCAACTGGCGTCCGGCTTCC	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0								ENSG00000158258						56	53	54					3																	140281713		2203	4300	6503	CLSTN2	SO:0001583	missense	0			-	HGNC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2273G>A	3.37:g.140281713G>A	ENSP00000402460:p.Arg758His	Somatic	0	48	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP							pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R758H	ENST00000458420.3	37	c.2273	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.677905	0.00751	.	.	ENSG00000158258	ENST00000458420	T	0.27402	1.67	4.83	-8.55	0.00908	.	1.202050	0.05498	N	0.557848	T	0.10165	0.0249	N	0.00966	-1.09	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43972	-0.9358	9	.	.	.	-27.0406	17.2639	0.87079	0.8556:0.0:0.1444:0.0	.	758	Q9H4D0	CSTN2_HUMAN	H	758	ENSP00000402460:R758H	.	R	+	2	0	CLSTN2	141764403	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.480000	0.06559	-1.760000	0.01312	-1.008000	0.02478	CGT	-	NULL		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	protein_coding	OTTHUMT00000359393.3	G	NM_022131	-		140281713	1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	SNP	0.001	A	A	140281713	G	A	140281713	3	1	107	1	0	0	0	0	1	0	0	0	3564	1145	40	1	2327	1	CLSTN2	3	140281713	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	16823862	140281713	57740717	23	7047											
NOP14	8602	genome.wustl.edu	37	chr4	2949306	2949306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatctgtagccaaatcGccaacgtattccaaaagaaa	8	10	2	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:2949306G>A	ENST00000314262.6	-	10	1494	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000416614.2_Silent_p.G482G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.G482G|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Silent_p.G482G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	482					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.G482G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGCCAAATCGCCAACGTATT	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000087269						142	130	134					4																	2949306		2203	4300	6503	NOP14	SO:0001819	synonymous_variant	0			-	HGNC	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1446C>T	4.37:g.2949306G>A		Somatic	0	29	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP							pfam_Nop14	p.G482	ENST00000314262.6	37	c.1446	CCDS33945.1	4																																																																																			-	pfam_Nop14		0.448	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	protein_coding	OTTHUMT00000358135.2	G	NM_003703	-		2949306	-1	no_errors	ENST00000416614	ensembl	human	known	74_37	silent	SNP	0.086	A	A	2949306	G	A	2949306	2	1	107	1	0	0	0	0	0	0	0	1	10538	1074	38	1		1	NOP14	4	2949306	Silent	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		2949306	188204970	24	7048											
SLIT2	9353	genome.wustl.edu	37	chr4	20620477	20620477	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaccaagaaggtgtccCgattagagtgcagaggtggg	14	7	0	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:20620477C>G	ENST00000504154.1	+	37	4687	c.4435C>G	c.(4435-4437)Cga>Gga	p.R1479G	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1492G|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1471G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1475G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1479	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.R1479R(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGGTGTCCCGATTAGAGTG	0.507																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000145147						106	91	96					4																	20620477		2203	4300	6503	SLIT2	SO:0001583	missense	0			-	HGNC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4435C>G	4.37:g.20620477C>G	ENSP00000422591:p.Arg1479Gly	Somatic	0	61	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	64	20.00	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1479G	ENST00000504154.1	37	c.4435	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490889	0.44249	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80566	-1.38;-1.39;-1.3;-1.36	6.17	5.33	0.75918	Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	L	0.53249	1.67	0.80722	D	1	P;P	0.40197	0.706;0.577	B;B	0.41723	0.365;0.16	T	0.75584	-0.3267	10	0.27785	T	0.31	.	13.8072	0.63240	0.4128:0.5872:0.0:0.0	.	1471;1479	O94813-3;O94813	.;SLIT2_HUMAN	G	1471;1479;1492;1475;1475	ENSP00000427548:R1471G;ENSP00000422591:R1479G;ENSP00000273739:R1492G;ENSP00000422261:R1475G	ENSP00000273739:R1492G	R	+	1	2	SLIT2	20229575	0.938000	0.31826	0.029000	0.17559	0.901000	0.52897	2.077000	0.41557	1.615000	0.50252	0.655000	0.94253	CGA	-	smart_Cys_knot_C,pfscan_Cys_knot_C		0.507	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	C		-		20620477	1	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	SNP	0.962	G	G	20620477	C	G	20620477	3	3	107	1	0	0	0	0	1	0	0	0	14748	644	23	4	4581	4	SLIT2	4	20620477	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	17671171	20620477	170533799	25	7049											
SEL1L3	23231	genome.wustl.edu	37	chr4	25783928	25783928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccaagattgtatgacGcatctgggttccccatttct	9	11	2	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:25783928G>A	ENST00000399878.3	-	15	2515	c.2393C>T	c.(2392-2394)gCg>gTg	p.A798V	SEL1L3_ENST00000502949.1_Missense_Mutation_p.A645V|SEL1L3_ENST00000264868.5_Missense_Mutation_p.A763V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	798						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTATGACGCATCTGGGTT	0.458																																																	0								ENSG00000091490						254	238	243					4																	25783928		1898	4121	6019	SEL1L3	SO:0001583	missense	0			-	HGNC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2393C>T	4.37:g.25783928G>A	ENSP00000382767:p.Ala798Val	Somatic	0	58	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP							pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.A798V	ENST00000399878.3	37	c.2393	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798206	0.90538	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.59906	0.23;0.23;0.23	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);	0.055934	0.64402	D	0.000001	T	0.74891	0.3776	L	0.58810	1.83	0.44129	D	0.996919	D;D	0.89917	0.997;1.0	P;D	0.83275	0.894;0.996	T	0.76049	-0.3101	10	0.87932	D	0	-16.6981	19.7554	0.96287	0.0:0.0:1.0:0.0	.	205;798	B4DTH5;Q68CR1	.;SE1L3_HUMAN	V	798;763;645	ENSP00000382767:A798V;ENSP00000264868:A763V;ENSP00000425438:A645V	ENSP00000264868:A763V	A	-	2	0	SEL1L3	25393026	1.000000	0.71417	0.893000	0.35052	0.960000	0.62799	8.188000	0.89710	2.665000	0.90641	0.563000	0.77884	GCG	-	pfam_Sel1-like,smart_Sel1-like		0.458	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	protein_coding	OTTHUMT00000360261.1	G	NM_015187	-		25783928	-1	no_errors	ENST00000399878	ensembl	human	known	74_37	missense	SNP	0.996	A	A	25783928	G	A	25783928	3	1	107	1	0	0	0	0	1	0	0	0	14020	1087	38	1	1045	1	SEL1L3	4	25783928	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	5163451	25783928	165370348	26	7050											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73414431	73414431	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttagtcgcagatgaaaatCttttccaaatgccgtgatgt	8	8	1	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:73414431C>A	ENST00000286657.4	-	3	304	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	90					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGATGAAAATCTTTTCCAAAT	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)												0								ENSG00000156140						108	103	105					4																	73414431		2203	4300	6503	ADAMTS3	SO:0001583	missense	0			-	HGNC	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.268G>T	4.37:g.73414431C>A	ENSP00000286657:p.Asp90Tyr	Somatic	0	51	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	A1L3U9|Q9BXZ8	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.D90Y	ENST00000286657.4	37	c.268	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794667	0.70452	.	.	ENSG00000156140	ENST00000286657	T	0.07114	3.22	5.74	4.03	0.46877	Peptidase M12B, propeptide (1);	0.160162	0.38959	N	0.001515	T	0.21841	0.0526	M	0.78916	2.43	0.45087	D	0.9981	D	0.55385	0.971	P	0.54815	0.761	T	0.00918	-1.1515	10	0.62326	D	0.03	.	11.8215	0.52240	0.0:0.8585:0.0:0.1415	.	90	O15072	ATS3_HUMAN	Y	90	ENSP00000286657:D90Y	ENSP00000286657:D90Y	D	-	1	0	ADAMTS3	73633295	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.899000	0.63245	0.894000	0.36317	0.643000	0.83706	GAT	-	pfam_Peptidase_M12B_N		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	C		-		73414431	-1	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73414431	C	A	73414431	3	1	107	1	0	0	0	0	1	0	0	0	267	913	32	3	3429	3	ADAMTS3	4	73414431	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	47630503	73414431	117739845	27	7051											
MMRN1	22915	genome.wustl.edu	37	chr4	90857734	90857734	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaacagaatttgtggAaccaataattcaaataaaaa	6	5	2	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:90857734A>T	ENST00000394980.1	+	7	3222	c.2903A>T	c.(2902-2904)gAa>gTa	p.E968V	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.E968V|MMRN1_ENST00000508372.1_Missense_Mutation_p.E710V			Q13201	MMRN1_HUMAN	multimerin 1	968					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAATTTGTGGAACCAATAATT	0.383																																																	0								ENSG00000138722						52	54	54					4																	90857734		2203	4299	6502	MMRN1	SO:0001583	missense	0			-	HGNC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2903A>T	4.37:g.90857734A>T	ENSP00000378431:p.Glu968Val	Somatic	0	41	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	26	58.73	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP							pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.E968V	ENST00000394980.1	37	c.2903	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	8.830	0.939560	0.18281	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69306	-0.07;-0.07;-0.39	5.1	-0.0588	0.13796	.	0.313431	0.31210	N	0.008055	T	0.69548	0.3123	M	0.61703	1.905	0.25518	N	0.987399	D	0.57899	0.981	P	0.55161	0.77	T	0.63888	-0.6535	10	0.72032	D	0.01	.	9.2577	0.37593	0.7202:0.0:0.2798:0.0	.	968	Q13201	MMRN1_HUMAN	V	968;968;710	ENSP00000378431:E968V;ENSP00000264790:E968V;ENSP00000426461:E710V	ENSP00000264790:E968V	E	+	2	0	MMRN1	91076757	0.965000	0.33210	0.015000	0.15790	0.012000	0.07955	2.625000	0.46452	-0.068000	0.12953	-0.250000	0.11733	GAA	-	NULL		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	A	NM_007351	-		90857734	1	no_errors	ENST00000264790	ensembl	human	known	74_37	missense	SNP	0.148	T	T	90857734	A	T	90857734	3	4	107	1	0	0	0	0	1	0	0	0	9672	246	9	5	2925	5	MMRN1	4	90857734	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	17443303	90857734	100296542	28	7052											
NFKB1	4790	genome.wustl.edu	37	chr4	103500090	103500090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagaccaaggagatGgacctcagcgtggtgcggct	15	11	1	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:103500090G>A	ENST00000505458.1	+	8	898	c.621G>A	c.(619-621)atG>atA	p.M207I	NFKB1_ENST00000600343.1_Missense_Mutation_p.M27I|NFKB1_ENST00000226574.4_Missense_Mutation_p.M208I|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.M207I			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	207	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CCAAGGAGATGGACCTCAGCG	0.542																																																	0								ENSG00000109320						120	107	111					4																	103500090		2203	4300	6503	NFKB1	SO:0001583	missense	0			-	HGNC	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.621G>A	4.37:g.103500090G>A	ENSP00000424790:p.Met207Ile	Somatic	0	50	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	43	32.81	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP							pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.M208I	ENST00000505458.1	37	c.624	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	G	3.440	-0.114174	0.06881	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.51	5.51	0.81932	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.043946	0.85682	D	0.000000	T	0.20088	0.0483	N	0.03948	-0.315	0.54753	D	0.999989	P;B;B	0.35821	0.523;0.405;0.055	B;B;B	0.30029	0.11;0.11;0.058	T	0.13683	-1.0500	10	0.49607	T	0.09	.	12.723	0.57152	0.0755:0.0:0.9245:0.0	.	27;207;208	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	I	208;207;207;1	ENSP00000226574:M208I;ENSP00000378297:M207I;ENSP00000424790:M207I;ENSP00000424815:M1I	ENSP00000226574:M208I	M	+	3	0	NFKB1	103719128	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	5.369000	0.66138	2.589000	0.87451	0.585000	0.79938	ATG	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.542	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	protein_coding	OTTHUMT00000363411.1	G		-		103500090	1	no_errors	ENST00000226574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103500090	G	A	103500090	3	1	107	1	0	0	0	0	1	0	0	0	10377	1348	47	2	650	2	NFKB1	4	103500090	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	12642356	103500090	87654186	29	7053											
TIGD4	201798	genome.wustl.edu	37	chr4	153691034	153691034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaatcctgcctcttcatAgcttttaacaatagtctctg	5	10	3	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:153691034A>G	ENST00000304337.2	-	2	1943	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	375	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GCCTCTTCATAGCTTTTAACA	0.423																																																	0								ENSG00000169989						133	133	133					4																	153691034		2203	4300	6503	TIGD4	SO:0001583	missense	0			-	HGNC	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1123T>C	4.37:g.153691034A>G	ENSP00000355162:p.Tyr375His	Somatic	0	46	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q96LP5	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.Y375H	ENST00000304337.2	37	c.1123	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387492	0.61956	.	.	ENSG00000169989	ENST00000304337	T	0.47869	0.83	6.17	6.17	0.99709	.	0.148500	0.31660	N	0.007278	T	0.49677	0.1571	L	0.29908	0.895	0.37583	D	0.919871	D	0.53885	0.963	P	0.51487	0.671	T	0.58042	-0.7706	10	0.87932	D	0	-16.9208	16.4957	0.84242	1.0:0.0:0.0:0.0	.	375	Q8IY51	TIGD4_HUMAN	H	375	ENSP00000355162:Y375H	ENSP00000355162:Y375H	Y	-	1	0	TIGD4	153910484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.219000	0.72231	2.371000	0.80710	0.533000	0.62120	TAT	-	pfam_DDE_SF_endonuclease_CENPB-like		0.423	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	protein_coding	OTTHUMT00000365028.1	A	NM_145720	-		153691034	-1	no_errors	ENST00000304337	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153691034	A	G	153691034	3	3	107	1	0	0	0	0	1	0	0	0	15905	420	15	5	419	5	TIGD4	4	153691034	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	50190944	153691034	37463242	30	7054											
KIAA0922	23240	genome.wustl.edu	37	chr4	154547353	154547353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcccatctccttgaatcTttctcataacatctgcaatc	3	14	4	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr4:154547353T>C	ENST00000409663.3	+	30	4149	c.4097T>C	c.(4096-4098)cTt>cCt	p.L1366P	KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1367P|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1283P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1366						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCCTTGAATCTTTCTCATAAC	0.323																																																	0								ENSG00000121210						217	230	225					4																	154547353		2203	4299	6502	KIAA0922	SO:0001583	missense	0			-	HGNC	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4097T>C	4.37:g.154547353T>C	ENSP00000386574:p.Leu1366Pro	Somatic	0	55	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP							pfam_DUF3651_TMEM131	p.L1367P	ENST00000409663.3	37	c.4100	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877528	0.72294	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.22336	2.24;1.96;2.24;1.96	5.4	5.4	0.78164	.	0.435229	0.23342	N	0.049230	T	0.42921	0.1224	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.30149	-0.9988	10	0.66056	D	0.02	-14.9728	15.4243	0.75038	0.0:0.0:0.0:1.0	.	1283;1367;1366	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	P	1366;1283;1367;1144	ENSP00000386574:L1366P;ENSP00000409663:L1283P;ENSP00000386787:L1367P;ENSP00000240487:L1144P	ENSP00000240487:L1144P	L	+	2	0	KIAA0922	154766803	1.000000	0.71417	0.752000	0.31206	0.996000	0.88848	5.083000	0.64456	2.042000	0.60477	0.533000	0.62120	CTT	-	NULL		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	protein_coding	OTTHUMT00000330370.1	T	NM_015196	-		154547353	1	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	SNP	1.000	C	C	154547353	T	C	154547353	3	2	107	1	0	0	0	0	1	0	0	0	8203	1609	56	5	4218	5	KIAA0922	4	154547353	Missense_Mutation	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09	856319	154547353	36606923	31	7055											
FAM169A	26049	genome.wustl.edu	37	chr5	74100335	74100335	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacagttagctgcatctcacTagactgattgtcttcagttc	7	10	3	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:74100335T>A	ENST00000389156.4	-	8	985	c.895A>T	c.(895-897)Agt>Tgt	p.S299C	FAM169A_ENST00000510496.1_Missense_Mutation_p.S239C|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	299						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TGCATCTCACTAGACTGATTG	0.338																																																	0								ENSG00000198780						150	137	141					5																	74100335		1839	4093	5932	FAM169A	SO:0001583	missense	0			-	HGNC		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.895A>T	5.37:g.74100335T>A	ENSP00000373808:p.Ser299Cys	Somatic	0	45	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP							NULL	p.S299C	ENST00000389156.4	37	c.895	CCDS43330.1	5	.	.	.	.	.	.	.	.	.	.	T	17.60	3.428713	0.62844	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.49139	0.79	5.58	1.71	0.24356	.	0.476251	0.21718	N	0.070164	T	0.41236	0.1150	L	0.29908	0.895	0.47698	D	0.999492	D;D	0.58970	0.984;0.984	P;P	0.53360	0.634;0.724	T	0.30268	-0.9984	10	0.72032	D	0.01	-2.1386	4.6303	0.12498	0.0:0.1746:0.1628:0.6626	.	239;299	D6RB01;Q9Y6X4	.;F169A_HUMAN	C	299;239	ENSP00000373808:S299C	ENSP00000373808:S299C	S	-	1	0	FAM169A	74136091	0.027000	0.19231	0.760000	0.31359	0.978000	0.69477	0.638000	0.24674	0.406000	0.25560	0.528000	0.53228	AGT	-	NULL		0.338	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	protein_coding	OTTHUMT00000371092.2	T		-		74100335	-1	no_errors	ENST00000389156	ensembl	human	known	74_37	missense	SNP	0.715	A	A	74100335	T	A	74100335	3	1	107	1	0	0	0	0	1	0	0	0	5489	1522	53	5	1141	5	FAM169A	5	74100335	Missense_Mutation	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09		74100335	106814925	32	7056											
RASGRF2	5924	genome.wustl.edu	37	chr5	80382653	80382653	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgtctgtgttgtgtcacaGagtaatgcacgatgaagtca	11	8	3	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:80382653G>T	ENST00000265080.4	+	9	1338		c.e9-1		RASGRF2_ENST00000502677.1_Splice_Site	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTGTGTCACAGAGTAATGCAC	0.473																																																	0								ENSG00000113319						122	103	109					5																	80382653		2203	4300	6503	RASGRF2	SO:0001630	splice_region_variant	0			-	HGNC	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1272-1G>T	5.37:g.80382653G>T		Somatic	0	25	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B9EG89|Q9UK56	Splice_Site	SNP							-	e9-1	ENST00000265080.4	37	c.1272-1	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528165	0.44969	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.72	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9362	0.70957	0.0688:0.0:0.9312:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASGRF2	80418409	1.000000	0.71417	0.989000	0.46669	0.439000	0.31926	8.023000	0.88764	1.422000	0.47177	-0.143000	0.13931	.	-	-		0.473	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	protein_coding	OTTHUMT00000239215.2	G	NM_006909	-	Intron	80382653	1	no_errors	ENST00000265080	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	80382653	G	T	80382653	5	4	107	1	0	0	0	0	0	0	1	0	13081	956	33	3	1305	3	RASGRF2	5	80382653	Splice_Site	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	6282318	80382653	100532607	33	7057											
FBN2	2201	genome.wustl.edu	37	chr5	127681117	127681117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccgcgggggcacagcGtctcgtattccttggtgcca	13	15	1	0	rs150506063		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:127681117G>A	ENST00000508053.1	-	30	4123	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	FBN2_ENST00000262464.4_Missense_Mutation_p.T1050M|FBN2_ENST00000508989.1_Missense_Mutation_p.T1017M			P35556	FBN2_HUMAN	fibrillin 2	1050	TB 5.				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.T1050M(1)		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)		GGGGCACAGCGTCTCGTATTC	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		13630	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000138829	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	86	89	88		3149	4.3	0.9	5	dbSNP_134	88	0,8600		0,0,4300	yes	missense	FBN2	NM_001999.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	1050/2913	127681117	2,13004	2203	4300	6503	FBN2	SO:0001583	missense	0			-	HGNC	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.3149C>T	5.37:g.127681117G>A	ENSP00000424571:p.Thr1050Met	Somatic	0	61	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	35	45.31	B4DU01|Q59ES6	Missense_Mutation	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.T1050M	ENST00000508053.1	37	c.3149	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	9.090	1.001488	0.19121	4.54E-4	0.0	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93076	-3.16;-3.16;-3.16	4.32	4.32	0.51571	Matrix fibril-associated (3);TGF-beta binding (1);	0.393089	0.22703	N	0.056667	D	0.92185	0.7522	L	0.46157	1.445	0.09310	N	1	D;P	0.57899	0.981;0.621	P;B	0.55545	0.778;0.128	D	0.84890	0.0836	10	0.45353	T	0.12	.	5.6623	0.17676	0.159:0.0:0.6721:0.1689	.	1017;1050	D6RJI3;P35556	.;FBN2_HUMAN	M	1050;1050;1017	ENSP00000262464:T1050M;ENSP00000424571:T1050M;ENSP00000425596:T1017M	ENSP00000262464:T1050M	T	-	2	0	FBN2	127709016	0.004000	0.15560	0.940000	0.37924	0.247000	0.25773	1.512000	0.35812	2.701000	0.92244	0.563000	0.77884	ACG	-	pirsf_FBN,pfam_TB_dom,superfamily_TB_dom		0.622	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	G	NM_001999	rs150506063		127681117	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	SNP	0.006	A	A	127681117	G	A	127681117	3	1	107	1	0	0	0	0	1	0	0	0	5705	1145	40	1	5757	1	FBN2	5	127681117	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	47298464	127681117	53234143	34	7058											
KLHL3	26249	genome.wustl.edu	37	chr5	137045465	137045465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgcacagaagtaggggCtgcaggctgccaggaccaca	13	12	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:137045465C>T	ENST00000309755.4	-	3	658	c.215G>A	c.(214-216)aGc>aAc	p.S72N	KLHL3_ENST00000508657.1_Missense_Mutation_p.S40N|KLHL3_ENST00000394937.3_Missense_Mutation_p.S72N	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GAAGTAGGGGCTGCAGGCTGC	0.547																																																	0								ENSG00000146021						165	134	144					5																	137045465		2203	4300	6503	KLHL3	SO:0001583	missense	0			-	HGNC	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.215G>A	5.37:g.137045465C>T	ENSP00000312397:p.Ser72Asn	Somatic	0	40	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	23	48.89	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S72N	ENST00000309755.4	37	c.215	CCDS4192.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.308225	0.95629	.	.	ENSG00000146021	ENST00000508657;ENST00000309755;ENST00000505853;ENST00000394937	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.35	5.35	0.76521	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.086755	0.85682	D	0.000000	D	0.95526	0.8546	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97106	0.9801	10	0.87932	D	0	.	18.6586	0.91463	0.0:1.0:0.0:0.0	.	32;72	D6RH21;Q9UH77	.;KLHL3_HUMAN	N	40;72;32;72	ENSP00000422099:S40N;ENSP00000312397:S72N;ENSP00000426173:S32N;ENSP00000378395:S72N	ENSP00000312397:S72N	S	-	2	0	KLHL3	137073364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.137000	0.77295	2.502000	0.84385	0.650000	0.86243	AGC	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.547	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	protein_coding	OTTHUMT00000251220.2	C		-		137045465	-1	no_errors	ENST00000309755	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137045465	C	T	137045465	3	4	107	1	0	0	0	0	1	0	0	0	8385	797	28	2	1600	2	KLHL3	5	137045465	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	9364348	137045465	43869795	35	7059											
SLC4A9	83697	genome.wustl.edu	37	chr5	139747152	139747152	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtcatcctcaaccgcatgGaatacagactgcaggtaagg	10	11	2	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:139747152G>T	ENST00000230993.6	+	15	2268	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*	SLC4A9_ENST00000506545.1_Nonsense_Mutation_p.E658*|SLC4A9_ENST00000506757.2_Nonsense_Mutation_p.E721*|SLC4A9_ENST00000507527.1_Nonsense_Mutation_p.E745*|SLC4A9_ENST00000432095.2_Nonsense_Mutation_p.E707*	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	745	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCGCATGGAATACAGACT	0.582																																																	0								ENSG00000113073						35	36	36					5																	139747152		2089	4237	6326	SLC4A9	SO:0001587	stop_gained	0			-	HGNC	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2233G>T	5.37:g.139747152G>T	ENSP00000230993:p.Glu745*	Somatic	0	23	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Nonsense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E745*	ENST00000230993.6	37	c.2233	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808599	0.70797	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	.	.	.	4.75	2.95	0.34219	.	0.083321	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.6999	0.40180	0.0734:0.0:0.7857:0.1409	.	.	.	.	X	745;721;707;658;745	.	ENSP00000230993:E745X	E	+	1	0	SLC4A9	139727336	1.000000	0.71417	0.395000	0.26283	0.142000	0.21351	6.607000	0.74163	0.717000	0.32145	-0.181000	0.13052	GAA	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk		0.582	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	G	NM_031467	-		139747152	1	no_errors	ENST00000230993	ensembl	human	known	74_37	nonsense	SNP	0.996	T	T	139747152	G	T	139747152	4	4	107	1	0	0	0	0	0	1	0	0	14668	1175	41	3	2219	3	SLC4A9	5	139747152	Nonsense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	2701687	139747152	41168108	36	7060											
PCDHA5	56143	genome.wustl.edu	37	chr5	140202746	140202746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccccagtataccgtgttCgtgaaggagaacaacccgcc	10	14	0	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:140202746C>T	ENST00000529859.1	+	1	1386	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PCDHA5_ENST00000378126.3_Silent_p.F462F|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.F462F|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	462	Cadherin 5. {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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACCGTGTTCGTGAAGGAGA	0.662																																																	0								ENSG00000204965						69	73	71					5																	140202746		2203	4300	6503	PCDHA5	SO:0001819	synonymous_variant	0			-	HGNC	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1386C>T	5.37:g.140202746C>T		Somatic	0	121	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	95	69	57.93	O75284|Q8N4R3	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F462	ENST00000529859.1	37	c.1386	CCDS54917.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	protein_coding	OTTHUMT00000372883.2	C	NM_018908	-		140202746	1	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	SNP	0.919	T	T	140202746	C	T	140202746	2	4	107	1	0	0	0	0	0	0	0	1	11529	883	31	1		1	PCDHA5	5	140202746	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	455594	140202746	40712514	37	7061											
GLRA1	2741	genome.wustl.edu	37	chr5	151231024	151231024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatgcctaggcccacaCgagcaggtgcagcatccatg	13	12	0	1	rs281864918		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:151231024C>T	ENST00000455880.2	-	7	1125	c.839G>A	c.(838-840)cGt>cAt	p.R280H	GLRA1_ENST00000545569.1_Missense_Mutation_p.R197H|GLRA1_ENST00000274576.4_Missense_Mutation_p.R280H|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	280			R -> H (in HKPX1). {ECO:0000269|PubMed:10514101}.		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)			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)	TAGGCCCACACGAGCAGGTGC	0.537																																																	0			GRCh37	CM992337	GLRA1	M		ENSG00000145888						141	123	129					5																	151231024		2203	4300	6503	GLRA1	SO:0001583	missense	0			-	HGNC		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.839G>A	5.37:g.151231024C>T	ENSP00000411593:p.Arg280His	Somatic	0	61	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	39	38.10	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel	p.R280H	ENST00000455880.2	37	c.839	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.441151	0.96187	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.90004	-2.6;-2.6;-2.6	5.2	5.2	0.72013	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.97265	3.97	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.999	D	0.98130	1.0430	10	0.87932	D	0	.	19.1084	0.93307	0.0:1.0:0.0:0.0	.	280;197;280	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	H	280;280;197	ENSP00000274576:R280H;ENSP00000411593:R280H;ENSP00000445913:R197H	ENSP00000274576:R280H	R	-	2	0	GLRA1	151211217	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.642000	0.83385	2.579000	0.87056	0.655000	0.94253	CGT	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.537	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	protein_coding	OTTHUMT00000373959.1	C		-		151231024	-1	no_errors	ENST00000455880	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151231024	C	T	151231024	3	4	107	1	0	0	0	0	1	0	0	0	6456	536	19	1	546	1	GLRA1	5	151231024	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	11028278	151231024	29684236	38	7062											
GEMIN5	25929	genome.wustl.edu	37	chr5	154287187	154287187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggtaattccggctcccGtgcttgctcctccccttctt	8	16	1	0	rs200476714		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr5:154287187G>A	ENST00000285873.7	-	16	2434	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	787					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.R787W(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGGCTCCCGTGCTTGCTCC	0.498													G|||	1	0.000199681	0	0	5008	,	,		17400	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000082516						152	132	138					5																	154287187		2203	4300	6503	GEMIN5	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2359C>T	5.37:g.154287187G>A	ENSP00000285873:p.Arg787Trp	Somatic	0	56	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	43	37.68	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R787W	ENST00000285873.7	37	c.2359	CCDS4330.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.94	1.491680	0.26774	.	.	ENSG00000082516	ENST00000285873	T	0.70631	-0.5	5.33	3.37	0.38596	.	1.655010	0.02727	N	0.114597	T	0.66761	0.2822	L	0.36672	1.1	0.09310	N	1	D;D	0.56968	0.978;0.978	B;B	0.40410	0.328;0.328	T	0.63341	-0.6659	10	0.72032	D	0.01	-1.6832	14.1953	0.65667	0.0:0.2846:0.7154:0.0	.	786;787	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	W	787	ENSP00000285873:R787W	ENSP00000285873:R787W	R	-	1	2	GEMIN5	154267380	0.111000	0.22076	0.213000	0.23690	0.099000	0.18886	3.127000	0.50484	1.332000	0.45431	0.563000	0.77884	CGG	-	NULL		0.498	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	protein_coding	OTTHUMT00000252507.1	G		rs200476714		154287187	-1	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	SNP	0.054	A	A	154287187	G	A	154287187	3	1	107	1	0	0	0	0	1	0	0	0	6333	1144	40	1	2219	1	GEMIN5	5	154287187	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	3056163	154287187	26628073	39	7063											
MAP3K4	4216	genome.wustl.edu	37	chr6	161470949	161470949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattttaagacttcacaagCtaatggatggttccttgcaa	7	7	1	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr6:161470949C>T	ENST00000392142.4	+	3	1793	c.1645C>T	c.(1645-1647)Cta>Tta	p.L549L	MAP3K4_ENST00000366920.2_Silent_p.L549L|MAP3K4_ENST00000348824.7_Silent_p.L549L|MAP3K4_ENST00000366919.2_Silent_p.L549L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	549					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACTTCACAAGCTAATGGATGG	0.383																																																	0								ENSG00000085511						94	97	96					6																	161470949		2203	4300	6503	MAP3K4	SO:0001819	synonymous_variant	0			-	HGNC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1645C>T	6.37:g.161470949C>T		Somatic	0	40	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	46.51	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L549	ENST00000392142.4	37	c.1645	CCDS34565.1	6																																																																																			-	NULL		0.383	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	protein_coding	OTTHUMT00000042988.3	C		-		161470949	1	no_errors	ENST00000392142	ensembl	human	known	74_37	silent	SNP	1.000	T	T	161470949	C	T	161470949	2	4	107	1	0	0	0	0	0	0	0	1	9254	796	28	2		2	MAP3K4	6	161470949	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09		161470949	9644118	40	7064											
TNS3	64759	genome.wustl.edu	37	chr7	47454731	47454731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgccgtggaggatgaCaaaatgcaggaacaggggag	20	5	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr7:47454731C>G	ENST00000398879.1	-	11	913	c.547G>C	c.(547-549)Gtc>Ctc	p.V183L	TNS3_ENST00000442536.2_Missense_Mutation_p.V183L|TNS3_ENST00000355730.3_Missense_Mutation_p.V183L|TNS3_ENST00000458317.2_Missense_Mutation_p.V183L|TNS3_ENST00000311160.9_Missense_Mutation_p.V183L			Q68CZ2	TENS3_HUMAN	tensin 3	183	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGAGGATGACAAAATGCAGG	0.567																																																	0								ENSG00000136205						88	104	99					7																	47454731		2046	4196	6242	TNS3	SO:0001583	missense	0			-	HGNC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.547G>C	7.37:g.47454731C>G	ENSP00000381854:p.Val183Leu	Somatic	0	61	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	57	14.93	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP							pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V183L	ENST00000398879.1	37	c.547	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757291	0.49468	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.14	4.25	0.50352	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.415707	0.23631	N	0.046137	D	0.82944	0.5147	L	0.61218	1.895	0.40623	D	0.98178	B;P	0.41978	0.011;0.767	B;B	0.34991	0.018;0.193	D	0.83595	0.0125	10	0.54805	T	0.06	-38.8308	11.321	0.49421	0.1822:0.8178:0.0:0.0	.	183;183	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	L	183;293;183;183;286;272;183;183	ENSP00000312143:V183L;ENSP00000381854:V183L;ENSP00000347968:V183L;ENSP00000414358:V286L;ENSP00000396914:V272L;ENSP00000389285:V183L;ENSP00000388318:V183L	ENSP00000312143:V183L	V	-	1	0	TNS3	47421256	0.991000	0.36638	0.839000	0.33178	0.914000	0.54420	2.916000	0.48813	1.290000	0.44636	0.655000	0.94253	GTC	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,smart_Tyr_Pase_cat,pfscan_Tensin_phosphatase_C2-dom		0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	protein_coding	OTTHUMT00000157253.1	C	NM_022748	-		47454731	-1	no_errors	ENST00000311160	ensembl	human	known	74_37	missense	SNP	0.971	G	G	47454731	C	G	47454731	3	3	107	1	0	0	0	0	1	0	0	0	16351	478	17	4	3874	4	TNS3	7	47454731	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09		47454731	111683932	41	7065											
AKAP9	10142	genome.wustl.edu	37	chr7	91714957	91714957	+	Frame_Shift_Del	DEL	T	T	-													catcaatacaatctcatctcTaaaggatttaattacaaaga							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr7:91714957delT	ENST00000359028.2	+	36	9218	c.8993delT	c.(8992-8994)ctafs	p.L2998fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.L2944fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.L2994fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2998					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTCATCTCTAAAGGATTTA	0.343			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0								ENSG00000127914						59	61	60					7																	91714957		2203	4300	6503	AKAP9	SO:0001589	frameshift_variant	0				HGNC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8993delT	7.37:g.91714957delT	ENSP00000351922:p.Leu2998fs	Somatic	0	30	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL							pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.L2998fs	ENST00000359028.2	37	c.8993		7																																																																																			-	NULL		0.343	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		T	NM_005751			91714957	1	no_errors	ENST00000359028	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	91714957	T	-	91714957	7	5	107	1	0	1	0	1	0	0	0	0	459	1522	53	0	9123	0	AKAP9	7	91714957	Frame_Shift_Del	DEL	T	TCGA-DX-A8BU-01A-11D-A37C-09	44260226	91714957	67423706	42	7066	106	2									
AKAP9	10142	genome.wustl.edu	37	chr7	91714967	91714986	+	Frame_Shift_Del	DEL	AATTACAAAGATGCAACTGC	AATTACAAAGATGCAACTGC	-													atctcatctctaaaggatttAattacaaagatgcaactgca							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	AATTACAAAGATGCAACTGC	AATTACAAAGATGCAACTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr7:91714967_91714986delAATTACAAAGATGCAACTGC	ENST00000359028.2	+	36	9228_9247	c.9003_9022delAATTACAAAGATGCAACTGC	c.(9001-9024)ttaattacaaagatgcaactgcaafs	p.ITKMQLQ3002fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.ITKMQLQ2948fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.ITKMQLQ2998fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3002					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAAGGATTTAATTACAAAGATGCAACTGCAAAGAGAAGC	0.305			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0								ENSG00000127914																																			AKAP9	SO:0001589	frameshift_variant	0				HGNC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9003_9022delAATTACAAAGATGCAACTGC	7.37:g.91714967_91714986delAATTACAAAGATGCAACTGC	ENSP00000351922:p.Ile3002fs	Somatic					0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL							pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.I3002fs	ENST00000359028.2	37	c.9003_9022		7																																																																																			-	NULL		0.305	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		AATTACAAAGATGCAACTGC	NM_005751			91714986	1	no_errors	ENST00000359028	ensembl	human	known	74_37	frame_shift_del	DEL	0.986:1.000:1.000:1.000:0.982:0.998:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.970:0.905:0.944:0.964:0.996	-	-	91714986	AATTACAAAGATGCAACTGC	-	91714967	7	5	107	1	0	1	0	1	0	0	0	0	459	359	13	0	9133	0	AKAP9	7	91714967	Frame_Shift_Del	DEL	AATTACAAAGATGCAACTGC	TCGA-DX-A8BU-01A-11D-A37C-09	10	91714967	67423696	43	7067	106	2									
RBM28	55131	genome.wustl.edu	37	chr7	127950921	127950921	+	Frame_Shift_Del	DEL	A	A	-													tcccaataatttctgcttatAttgttcgaccagctggttga							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr7:127950921delA	ENST00000223073.2	-	19	2323	c.2209delT	c.(2209-2211)tatfs	p.Y737fs	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Frame_Shift_Del_p.Y596fs	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	737					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTCTGCTTATATTGTTCGACC	0.403																																																	0								ENSG00000106344						185	181	183					7																	127950921		2203	4300	6503	RBM28	SO:0001589	frameshift_variant	0				HGNC	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2209delT	7.37:g.127950921delA	ENSP00000223073:p.Tyr737fs	Somatic	0	54	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Frame_Shift_Del	DEL							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y737fs	ENST00000223073.2	37	c.2209	CCDS5801.1	7																																																																																			-	NULL		0.403	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	protein_coding	OTTHUMT00000349442.2	A	NM_018077			127950921	-1	no_errors	ENST00000223073	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	127950921	A	-	127950921	7	5	107	1	0	1	0	1	0	0	0	0	13136	449	16	0	74	0	RBM28	7	127950921	Frame_Shift_Del	DEL	A	TCGA-DX-A8BU-01A-11D-A37C-09	36235954	127950921	31187742	44	7068											
ADAM28	10863	genome.wustl.edu	37	chr8	24170916	24170916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggggctacttcagtcaGggggatcaaagatactttat	11	7	4	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr8:24170916G>T	ENST00000265769.4	+	6	509	c.399G>T	c.(397-399)caG>caT	p.Q133H	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Intron|ADAM28_ENST00000437154.2_Missense_Mutation_p.Q133H	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	133					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACTTCAGTCAGGGGGATCAAA	0.388																																					NSCLC(193;488 2149 22258 34798 40734)												0								ENSG00000042980						78	75	76					8																	24170916		2203	4300	6503	ADAM28	SO:0001583	missense	0			-	HGNC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.399G>T	8.37:g.24170916G>T	ENSP00000265769:p.Gln133His	Somatic	0	60	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	56	21.13	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q133H	ENST00000265769.4	37	c.399	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139510	0.06669	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.05649	3.41;3.41	5.48	-1.51	0.08664	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.03136	0.0092	N	0.16266	0.395	0.29732	N	0.837806	B;B	0.22909	0.077;0.003	B;B	0.23419	0.046;0.006	T	0.47535	-0.9110	9	0.14656	T	0.56	.	3.8979	0.09147	0.4538:0.0:0.35:0.1963	.	133;133	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	H	133	ENSP00000265769:Q133H;ENSP00000393699:Q133H	ENSP00000265769:Q133H	Q	+	3	2	ADAM28	24226861	0.994000	0.37717	0.859000	0.33776	0.166000	0.22503	0.006000	0.13152	-0.014000	0.14175	-0.378000	0.06908	CAG	-	pfam_Peptidase_M12B_N		0.388	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	protein_coding	OTTHUMT00000375441.2	G	NM_021778	-		24170916	1	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	SNP	0.367	T	T	24170916	G	T	24170916	3	4	107	1	0	0	0	0	1	0	0	0	246	991	35	3	421	3	ADAM28	8	24170916	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		24170916	122193106	45	7069											
CYHR1	50626	genome.wustl.edu	37	chr8	145677807	145677807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagctgcatctccttgCggtggctctggtccatccca	10	14	2	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr8:145677807C>T	ENST00000438911.2	-	4	765	c.632G>A	c.(631-633)cGc>cAc	p.R211H	CYHR1_ENST00000530374.1_Missense_Mutation_p.R253H	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	211						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CATCTCCTTGCGGTGGCTCTG	0.617																																																	0								ENSG00000187954						144	120	127					8																	145677807		692	1591	2283	CYHR1	SO:0001583	missense	0			-	HGNC	AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"cysteine and histidine rich 1"			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.632G>A	8.37:g.145677807C>T	ENSP00000387426:p.Arg211His	Somatic	0	38	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP							superfamily_TRAF-like,pfscan_Znf_TRAF	p.R211H	ENST00000438911.2	37	c.632	CCDS47943.1	8	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051693	0.55218	.	.	ENSG00000187954	ENST00000438911;ENST00000530374;ENST00000526887;ENST00000533173	T;T;T	0.80214	-1.35;-1.35;-1.35	5.39	4.39	0.52855	.	0.141210	0.50627	D	0.000117	T	0.64778	0.2629	L	0.29908	0.895	0.80722	D	1	P	0.48350	0.909	B	0.39027	0.288	T	0.65623	-0.6123	10	0.45353	T	0.12	-43.613	4.9097	0.13816	0.0:0.7486:0.0:0.2514	.	211	Q6ZMK1	CYHR1_HUMAN	H	211;253;160;123	ENSP00000387426:R211H;ENSP00000433769:R253H;ENSP00000434470:R160H	ENSP00000387426:R211H	R	-	2	0	CYHR1	145648615	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.448000	0.60027	2.517000	0.84864	0.561000	0.74099	CGC	-	NULL		0.617	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	protein_coding	OTTHUMT00000382438.1	C	NM_032687	-		145677807	-1	no_errors	ENST00000438911	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145677807	C	T	145677807	3	4	107	1	0	0	0	0	1	0	0	0	4142	768	27	1	464	1	CYHR1	8	145677807	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	121506891	145677807	686215	46	7070											
ARID3C	138715	genome.wustl.edu	37	chr9	34621478	34621478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagatgctggaaggggGccctgtggagggtgggggtg	24	5	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:34621478G>A	ENST00000378909.2	-	7	1308	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	406	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGGAAGGGGGCCCTGTGGAG	0.622																																																	0								ENSG00000205143						25	29	28					9																	34621478		2203	4300	6503	ARID3C	SO:0001583	missense	0			-	HGNC		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1216C>T	9.37:g.34621478G>A	ENSP00000368189:p.Pro406Ser	Somatic	0	61	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	107	10.83		Missense_Mutation	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P406S	ENST00000378909.2	37	c.1216	CCDS35006.1	9	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041164	0.35989	.	.	ENSG00000205143	ENST00000378909	T	0.58060	0.36	4.37	3.46	0.39613	.	0.000000	0.45126	D	0.000393	T	0.41650	0.1168	L	0.44542	1.39	0.27944	N	0.937405	B	0.23377	0.084	B	0.21360	0.034	T	0.28459	-1.0043	10	0.28530	T	0.3	-10.8031	10.3801	0.44106	0.0:0.1994:0.8006:0.0	.	406	A6NKF2	ARI3C_HUMAN	S	406	ENSP00000368189:P406S	ENSP00000368189:P406S	P	-	1	0	ARID3C	34611478	0.994000	0.37717	0.991000	0.47740	0.863000	0.49368	2.386000	0.44380	1.176000	0.42840	0.549000	0.68633	CCC	-	NULL		0.622	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3C	protein_coding	OTTHUMT00000348265.1	G	XM_071061	-		34621478	-1	no_errors	ENST00000378909	ensembl	human	known	74_37	missense	SNP	0.995	A	A	34621478	G	A	34621478	3	1	107	1	0	0	0	0	1	0	0	0	918	1203	42	2	25	2	ARID3C	9	34621478	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		34621478	106591953	47	7071											
HRCT1	646962	genome.wustl.edu	37	chr9	35906595	35906596	+	In_Frame_Ins	INS	-	-	CCACCC													caccacctccaccaccaccaINSccacccccaccgccaccatc					rs58509439		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:35906595_35906596insCCACCC	ENST00000354323.2	+	1	407_408	c.311_312insCCACCC	c.(310-315)caccac>caCCACCCccac	p.107_108insPH	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	107	His-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccaccacccccacc	0.673																																																	0								ENSG00000196196																																			HRCT1	SO:0001652	inframe_insertion	0				HGNC		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.312_317dupCCACCC	9.37:g.35906596_35906601dupCCACCC	ENSP00000346283:p.Pro106_His107dup	Somatic					0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7ZBJ1	In_Frame_Ins	INS							NULL	p.108in_frame_insPH	ENST00000354323.2	37	c.311_312	CCDS35012.1	9																																																																																			-	NULL		0.673	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	protein_coding	OTTHUMT00000334099.1	-	NM_001039792			35906596	1	no_errors	ENST00000354323	ensembl	human	known	74_37	in_frame_ins	INS	0.012:0.005	CCACCC	CCACCC	35906596	-	CCACCC	35906595	7	5	107	1	0	1	1	0	0	0	0	0	7355	159	6	0	313	0	HRCT1	9	35906595	In_Frame_Ins	INS	-	TCGA-DX-A8BU-01A-11D-A37C-09	1285117	35906595	105306836	48	7072											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39085765	39085765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatatgagagatttgacgGcgttgaattctgtccctgag	11	8	1	5			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:39085765G>A	ENST00000297668.6	-	21	3483	c.3410C>T	c.(3409-3411)gCc>gTc	p.A1137V	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A1056V|CNTNAP3_ENST00000358144.2_3'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1137	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1137G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGATTTGACGGCGTTGAATTC	0.398																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000106714						66	85	78					9																	39085765		2169	4237	6406	CNTNAP3	SO:0001583	missense	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3410C>T	9.37:g.39085765G>A	ENSP00000297668:p.Ala1137Val	Somatic	1	314	0.32		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	223	216	50.80	B1AMA0|Q9C0E9	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A1137V	ENST00000297668.6	37	c.3410	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870587	0.51588	.	.	ENSG00000106714	ENST00000297668;ENST00000377656	T;T	0.76839	-1.05;-1.05	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75117	0.3806	M	0.62723	1.935	0.80722	D	1	P;P	0.36733	0.517;0.567	B;B	0.43194	0.25;0.411	T	0.71533	-0.4564	9	0.30854	T	0.27	.	7.8674	0.29545	0.1203:0.0:0.8797:0.0	.	1056;1137	A6NC89;Q9BZ76	.;CNTP3_HUMAN	V	1137;1056	ENSP00000297668:A1137V;ENSP00000366884:A1056V	ENSP00000297668:A1137V	A	-	2	0	CNTNAP3	39075765	1.000000	0.71417	0.986000	0.45419	0.851000	0.48451	2.669000	0.46825	1.834000	0.53371	0.485000	0.47835	GCC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.398	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	G	NM_033655	-		39085765	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	SNP	0.993	A	A	39085765	G	A	39085765	3	1	107	1	0	0	0	0	1	0	0	0	3650	1203	42	2	472	2	CNTNAP3	9	39085765	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	3179170	39085765	102127666	49	7073											
FRMD3	257019	genome.wustl.edu	37	chr9	85863362	85863362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggggatcttcatactccCgggctgccttcactggggag	14	11	3	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:85863362C>T	ENST00000304195.3	-	14	1471	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	FRMD3_ENST00000376438.1_Missense_Mutation_p.R422Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.R228Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.R79Q|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	422						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCATACTCCCGGGCTGCCTT	0.443																																																	0								ENSG00000172159						72	72	72					9																	85863362		1847	4100	5947	FRMD3	SO:0001583	missense	0			-	HGNC	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1265G>A	9.37:g.85863362C>T	ENSP00000303508:p.Arg422Gln	Somatic	0	62	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP							pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R422Q	ENST00000304195.3	37	c.1265	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	5.988	0.366206	0.11352	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.85411	-1.57;-1.98;0.97;-1.59	5.38	-0.87	0.10646	.	1.075110	0.07080	N	0.836929	T	0.73171	0.3553	N	0.21448	0.665	0.09310	N	1	B;B;B	0.20261	0.0;0.0;0.043	B;B;B	0.09377	0.0;0.001;0.004	T	0.52609	-0.8553	10	0.13470	T	0.59	.	10.6066	0.45398	0.0:0.5266:0.0:0.4734	.	422;422;79	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	422;228;79;422	ENSP00000365621:R422Q;ENSP00000365617:R228Q;ENSP00000328615:R79Q;ENSP00000303508:R422Q	ENSP00000303508:R422Q	R	-	2	0	FRMD3	85053182	0.000000	0.05858	0.897000	0.35233	0.991000	0.79684	-0.925000	0.03992	-0.358000	0.08162	-0.131000	0.14894	CGG	-	NULL		0.443	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	protein_coding	OTTHUMT00000157355.1	C	NM_174938	-		85863362	-1	no_errors	ENST00000304195	ensembl	human	known	74_37	missense	SNP	0.000	T	T	85863362	C	T	85863362	3	4	107	1	0	0	0	0	1	0	0	0	6052	652	23	1	532	1	FRMD3	9	85863362	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	46777597	85863362	55350069	50	7074											
EPB41L4B	54566	genome.wustl.edu	37	chr9	112005921	112005921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttggagagtgaggatgCcaccggggctggctgggatg	18	7	0	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:112005921C>T	ENST00000374566.3	-	15	1903	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*	EPB41L4B_ENST00000374557.4_Nonsense_Mutation_p.W462*	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	462					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGAGGATGCCACCGGGGCT	0.423																																																	0								ENSG00000095203						84	90	88					9																	112005921		1908	4132	6040	EPB41L4B	SO:0001587	stop_gained	0			-	HGNC	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1386G>A	9.37:g.112005921C>T	ENSP00000363694:p.Trp462*	Somatic	0	35	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Nonsense_Mutation	SNP							pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.W462*	ENST00000374566.3	37	c.1386	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	C	43	10.148392	0.99346	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	.	.	.	5.93	5.93	0.95920	.	0.000000	0.33650	N	0.004689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	.	.	.	X	147;462;462;384	.	ENSP00000262536:W147X	W	-	3	0	EPB41L4B	111045742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	2.808000	0.96608	0.655000	0.94253	TGG	-	NULL		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	protein_coding	OTTHUMT00000053592.1	C	NM_018424	-		112005921	-1	no_errors	ENST00000374566	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	112005921	C	T	112005921	4	4	107	1	0	0	0	0	0	1	0	0	5158	740	26	2	1516	2	EPB41L4B	9	112005921	Nonsense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	26142559	112005921	29207510	51	7075											
TNC	3371	genome.wustl.edu	37	chr9	117848623	117848623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgtcactgcagtcatAgcccttgaagccttgctcac	8	14	4	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:117848623A>G	ENST00000350763.4	-	3	1798	c.1387T>C	c.(1387-1389)Tat>Cat	p.Y463H	TNC_ENST00000535648.1_Missense_Mutation_p.Y463H|TNC_ENST00000341037.4_Missense_Mutation_p.Y463H|TNC_ENST00000537320.1_Missense_Mutation_p.Y463H|TNC_ENST00000345230.3_Missense_Mutation_p.Y463H|TNC_ENST00000423613.2_Missense_Mutation_p.Y463H|TNC_ENST00000340094.3_Missense_Mutation_p.Y463H|TNC_ENST00000346706.3_Missense_Mutation_p.Y463H|TNC_ENST00000542877.1_Missense_Mutation_p.Y463H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	463	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						CTGCAGTCATAGCCCTTGAAG	0.567																																																	0								ENSG00000041982						152	142	145					9																	117848623		2203	4300	6503	TNC	SO:0001583	missense	0			-	HGNC		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.1387T>C	9.37:g.117848623A>G	ENSP00000265131:p.Tyr463His	Somatic	0	29	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.Y463H	ENST00000350763.4	37	c.1387	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	A	7.070	0.568125	0.13560	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0;4.0;4.0;4.0	5.82	2.1	0.27182	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.516583	0.22485	N	0.059442	T	0.02267	0.0070	N	0.13235	0.315	0.21290	N	0.999738	B;B	0.16396	0.017;0.003	B;B	0.16289	0.015;0.004	T	0.48422	-0.9037	10	0.18710	T	0.47	.	8.9094	0.35543	0.3668:0.5565:0.0767:0.0	.	463;463	E9PC84;P24821	.;TENA_HUMAN	H	463	ENSP00000344400:Y463H;ENSP00000438152:Y463H;ENSP00000344555:Y463H;ENSP00000345861:Y463H;ENSP00000265131:Y463H;ENSP00000339553:Y463H;ENSP00000411406:Y463H;ENSP00000443478:Y463H;ENSP00000442242:Y463H	ENSP00000344400:Y463H	Y	-	1	0	TNC	116888444	0.010000	0.17322	0.584000	0.28653	0.845000	0.48019	0.970000	0.29383	0.415000	0.25817	0.379000	0.24179	TAT	-	pfam_EGF_extracell,smart_EG-like_dom		0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	A	NM_002160	-		117848623	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	SNP	0.699	G	G	117848623	A	G	117848623	3	3	107	1	0	0	0	0	1	0	0	0	16277	420	15	5	5322	5	TNC	9	117848623	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	5842702	117848623	23364808	52	7076											
NR6A1	2649	genome.wustl.edu	37	chr9	127316690	127316690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgagacatgacacagTtcttgtcacgactgcatcga	9	12	2	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr9:127316690T>A	ENST00000487099.2	-	3	459	c.302A>T	c.(301-303)aAc>aTc	p.N101I	NR6A1_ENST00000373584.3_Missense_Mutation_p.N97I|NR6A1_ENST00000344523.4_Missense_Mutation_p.N101I|NR6A1_ENST00000416460.2_Missense_Mutation_p.N97I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	101					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CATGACACAGTTCTTGTCACG	0.532																																					Esophageal Squamous(192;272 2884 6208 20560)												0								ENSG00000148200						181	146	158					9																	127316690		2203	4300	6503	NR6A1	SO:0001583	missense	0			-	HGNC	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.302A>T	9.37:g.127316690T>A	ENSP00000420267:p.Asn101Ile	Somatic	0	25	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.N101I	ENST00000487099.2	37	c.302	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614559	0.87359	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12	5.51	5.51	0.81932	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.83312	2.635	0.80722	D	1	P;P;D	0.67145	0.924;0.915;0.996	P;P;P	0.61201	0.717;0.835;0.885	D	0.98346	1.0541	10	0.66056	D	0.02	.	14.8113	0.69996	0.0:0.0:0.0:1.0	.	97;101;97	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	I	101;97;97;101;59	ENSP00000420267:N101I;ENSP00000362686:N97I;ENSP00000413701:N97I;ENSP00000341135:N101I;ENSP00000420587:N59I	ENSP00000341135:N101I	N	-	2	0	NR6A1	126356511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.083000	0.62718	0.460000	0.39030	AAC	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.532	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	protein_coding	OTTHUMT00000054043.4	T		-		127316690	-1	no_errors	ENST00000487099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127316690	T	A	127316690	3	1	107	1	0	0	0	0	1	0	0	0	10639	1725	60	5	1172	5	NR6A1	9	127316690	Missense_Mutation	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09	9468067	127316690	13896741	53	7077											
ANKRD26	22852	genome.wustl.edu	37	chr10	27335425	27335425	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcagtgctctttacTtccttcatttgcaaggcagg	7	10	4	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr10:27335425T>A	ENST00000376087.4	-	18	2007	c.1842A>T	c.(1840-1842)gaA>gaT	p.E614D	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E171D|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E630D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	613					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)				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						TGCTCTTTACTTCCTTCATTT	0.393																																																	0								ENSG00000107890						111	102	105					10																	27335425		1816	4081	5897	ANKRD26	SO:0001583	missense	0			-	HGNC	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.1842A>T	10.37:g.27335425T>A	ENSP00000365255:p.Glu614Asp	Somatic	0	49	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP							pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E630D	ENST00000376087.4	37	c.1890	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883197	0.33255	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.36157	3.72;4.32;1.27	4.34	-3.6	0.04570	.	1.083160	0.07214	N	0.859773	T	0.24314	0.0589	L	0.49350	1.555	0.09310	N	1	B;B;B	0.20550	0.046;0.027;0.001	B;B;B	0.15484	0.013;0.006;0.001	T	0.33497	-0.9866	10	0.38643	T	0.18	.	0.1487	0.00090	0.2996:0.1886:0.1539:0.3579	.	614;613;630	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	D	171;614;630	ENSP00000365238:E171D;ENSP00000365255:E614D;ENSP00000405112:E630D	ENSP00000365238:E171D	E	-	3	2	ANKRD26	27375431	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.313000	0.08103	-0.400000	0.07656	0.248000	0.18094	GAA	-	NULL		0.393	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	protein_coding	OTTHUMT00000047296.1	T		-		27335425	-1	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	SNP	0.000	A	A	27335425	T	A	27335425	3	1	107	1	0	0	0	0	1	0	0	0	654	1606	56	5	3358	5	ANKRD26	10	27335425	Missense_Mutation	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09		27335425	108199322	54	7078											
GDF10	2662	genome.wustl.edu	37	chr10	48438537	48438537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccgcgtccccagggtgCcgctggagatccctgtcccc	14	18	0	1	rs45620039		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr10:48438537C>T	ENST00000224605.2	-	1	439	c.174G>A	c.(172-174)cgG>cgA	p.R58R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	58					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCCCAGGGTGCCGCTGGAGAT	0.731																																																	0								ENSG00000107623						7	7	7					10																	48438537		2124	4201	6325	GDF10	SO:0001819	synonymous_variant	0			-	HGNC	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.174G>A	10.37:g.48438537C>T		Somatic	0	41	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5VSQ8|Q9UCX6	Silent	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.R58	ENST00000224605.2	37	c.174	CCDS7220.1	10																																																																																			-	pirsf_BMP3/GDF10		0.731	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	protein_coding	OTTHUMT00000047884.1	C	NM_004962	rs45620039		48438537	-1	no_errors	ENST00000224605	ensembl	human	known	74_37	silent	SNP	0.030	T	T	48438537	C	T	48438537	2	4	107	1	0	0	0	0	0	0	0	1	6313	726	26	2		2	GDF10	10	48438537	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	21103112	48438537	87096210	55	7079											
TRIM6	117854	genome.wustl.edu	37	chr11	5624955	5624955	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtggaggaggttgcccAggagtaccaggtgagacccc	15	12	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:5624955A>T	ENST00000278302.5	+	2	553	c.413A>T	c.(412-414)cAg>cTg	p.Q138L	TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000445329.1_De_novo_Start_OutOfFrame|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.Q166L|TRIM6_ENST00000380097.3_Missense_Mutation_p.Q166L|TRIM6_ENST00000380107.1_Missense_Mutation_p.Q112L|TRIM6_ENST00000507320.1_De_novo_Start_OutOfFrame|AC015691.13_ENST00000394793.2_RNA	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	138					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGGTTGCCCAGGAGTACCAG	0.522																																																	0								ENSG00000258588						71	67	69					11																	5624955		2201	4297	6498	TRIM6-TRIM34	SO:0001583	missense	0			-	HGNC	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.413A>T	11.37:g.5624955A>T	ENSP00000278302:p.Gln138Leu	Somatic	0	51	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	80	9.09	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q166L	ENST00000278302.5	37	c.497	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	a	13.35	2.211685	0.39102	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000396867;ENST00000337072;ENST00000354852	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	3.96	2.83	0.33086	.	.	.	.	.	T	0.53094	0.1775	M	0.86097	2.795	0.09310	N	0.999996	B;B;P;B	0.41848	0.002;0.431;0.763;0.361	B;B;B;B	0.39379	0.006;0.186;0.298;0.156	T	0.55016	-0.8206	9	0.72032	D	0.01	.	4.3695	0.11241	0.6937:0.2014:0.1049:0.0	.	112;166;166;138	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	L	138;112;166;45;166;166	ENSP00000278302:Q138L;ENSP00000369450:Q112L;ENSP00000369440:Q166L;ENSP00000346916:Q166L	ENSP00000278302:Q138L	Q	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5581531	0.198000	0.23374	1.000000	0.80357	0.946000	0.59487	2.192000	0.42649	0.854000	0.35336	-0.359000	0.07587	CAG	-	NULL		0.522	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	protein_coding	OTTHUMT00000143376.2	A	NM_001003818	-		5624955	1	no_errors	ENST00000354852	ensembl	human	known	74_37	missense	SNP	0.468	T	T	5624955	A	T	5624955	3	4	107	1	0	0	0	0	1	0	0	0	16540	188	7	5	503	5	TRIM6	11	5624955	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09		5624955	129381561	56	7080											
SCUBE2	57758	genome.wustl.edu	37	chr11	9101004	9101007	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													cgataattgcctggaatattCaaacagtcatggacacagcc							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	CAAA	CAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:9101004_9101007delCAAA	ENST00000309263.3	-	3	378_381	c.306_309delTTTG	c.(304-309)tgtttgfs	p.CL102fs	SCUBE2_ENST00000520467.1_Frame_Shift_Del_p.CL102fs|SCUBE2_ENST00000450649.2_Frame_Shift_Del_p.CL102fs|SCUBE2_ENST00000534295.1_5'Flank|SCUBE2_ENST00000457346.2_Frame_Shift_Del_p.CL102fs			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	102	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)		CTGGAATATTCAAACAGTCATGGA	0.407																																																	0								ENSG00000175356																																			SCUBE2	SO:0001589	frameshift_variant	0				HGNC	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.306_309delTTTG	11.37:g.9101004_9101007delCAAA	ENSP00000310658:p.Cys102fs	Somatic	0	38	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	Q2NKQ8|Q6ZWI1	Frame_Shift_Del	DEL							pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.C102fs	ENST00000309263.3	37	c.309_306		11																																																																																			-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.407	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	protein_coding	OTTHUMT00000385812.2	CAAA	NM_020974			9101007	-1	no_errors	ENST00000457346	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	9101007	CAAA	-	9101004	7	5	107	1	0	1	0	1	0	0	0	0	13953	825	29	0	2861	0	SCUBE2	11	9101004	Frame_Shift_Del	DEL	CAAA	TCGA-DX-A8BU-01A-11D-A37C-09	3476049	9101004	125905512	57	7081											
PTPN5	84867	genome.wustl.edu	37	chr11	18751262	18751262	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgggctgcctcctccAcctcccgcaccaggtgcagg	11	19	0	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:18751262A>C	ENST00000358540.2	-	13	1863	c.1433T>G	c.(1432-1434)gTg>gGg	p.V478G	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Missense_Mutation_p.V446G|PTPN5_ENST00000477854.1_Missense_Mutation_p.V282G|PTPN5_ENST00000396171.4_Missense_Mutation_p.V478G|PTPN5_ENST00000396168.1_Missense_Mutation_p.V454G|PTPN5_ENST00000396166.3_Missense_Mutation_p.V84G|PTPN5_ENST00000396167.2_Missense_Mutation_p.V446G	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	478	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						TGCCTCCTCCACCTCCCGCAC	0.697																																																	0								ENSG00000110786						27	35	32					11																	18751262		2122	4262	6384	PTPN5	SO:0001583	missense	0			-	HGNC	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.1433T>G	11.37:g.18751262A>C	ENSP00000351342:p.Val478Gly	Somatic	0	68	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP							pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V478G	ENST00000358540.2	37	c.1433	CCDS7845.1	11	.	.	.	.	.	.	.	.	.	.	A	19.77	3.890033	0.72524	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396166;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T;T	0.38077	1.16;1.16;2.12;1.16;1.16;1.16;1.16	4.26	4.26	0.50523	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	T	0.72269	0.3439	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82855	-0.0251	10	0.87932	D	0	.	13.5421	0.61681	1.0:0.0:0.0:0.0	.	478;446	P54829;B3KXG7	PTN5_HUMAN;.	G	282;478;84;446;478;446;454	ENSP00000435056:V282G;ENSP00000351342:V478G;ENSP00000379469:V84G;ENSP00000379473:V446G;ENSP00000379474:V478G;ENSP00000379470:V446G;ENSP00000379471:V454G	ENSP00000351342:V478G	V	-	2	0	PTPN5	18707838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.106000	0.77039	1.793000	0.52555	0.533000	0.62120	GTG	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.697	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	protein_coding	OTTHUMT00000259196.2	A	NM_001039970	-		18751262	-1	no_errors	ENST00000358540	ensembl	human	known	74_37	missense	SNP	1.000	C	C	18751262	A	C	18751262	3	2	107	1	0	0	0	0	1	0	0	0	12799	159	6	5	276	5	PTPN5	11	18751262	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	9650258	18751262	116255254	58	7082											
MRGPRF	116535	genome.wustl.edu	37	chr11	68773521	68773521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcccacatcggcgctgGccaggtgcaggaagtagatg	16	10	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:68773521G>C	ENST00000309099.6	-	3	639	c.257C>G	c.(256-258)gCc>gGc	p.A86G	MRGPRF_ENST00000441623.1_Missense_Mutation_p.A86G|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	86						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCGGCGCTGGCCAGGTGCAG	0.612																																																	0								ENSG00000172935						35	34	35					11																	68773521		2194	4290	6484	MRGPRF	SO:0001583	missense	0			-	HGNC	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.257C>G	11.37:g.68773521G>C	ENSP00000309782:p.Ala86Gly	Somatic	0	47	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	36	36.84	B3KV43|Q8NBK8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A86G	ENST00000309099.6	37	c.257	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589916	0.66105	.	.	ENSG00000172935	ENST00000441623;ENST00000309099	T;T	0.56611	0.45;0.45	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000440	T	0.73923	0.3649	M	0.85299	2.745	0.39824	D	0.972887	D	0.89917	1.0	D	0.77557	0.99	T	0.79403	-0.1818	10	0.62326	D	0.03	-40.3379	13.5118	0.61517	0.0:0.0:1.0:0.0	.	86	Q96AM1	MRGRF_HUMAN	G	86	ENSP00000403660:A86G;ENSP00000309782:A86G	ENSP00000309782:A86G	A	-	2	0	MRGPRF	68530097	1.000000	0.71417	0.941000	0.38009	0.523000	0.34469	5.019000	0.64060	2.248000	0.74166	0.561000	0.74099	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	protein_coding	OTTHUMT00000396875.1	G	NM_145015	-		68773521	-1	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	SNP	1.000	C	C	68773521	G	C	68773521	3	2	107	1	0	0	0	0	1	0	0	0	9767	1203	42	4	778	4	MRGPRF	11	68773521	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	50022259	68773521	66232995	59	7083											
FAM181B	220382	genome.wustl.edu	37	chr11	82443505	82443505	+	Frame_Shift_Del	DEL	C	C	-													tcgaagtcagtcccggtgcgCcccctcctcccccggcgccc							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:82443505delC	ENST00000329203.3	-	1	1401	c.1267delG	c.(1267-1269)gcgfs	p.A423fs		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	423										large_intestine(1)|lung(2)|prostate(1)	4						TCCCGGTGCGCCCCCTCCTCC	0.632																																																	0								ENSG00000182103						12	15	14					11																	82443505		2194	4287	6481	FAM181B	SO:0001589	frameshift_variant	0				HGNC	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1267delG	11.37:g.82443505delC	ENSP00000365295:p.Ala423fs	Somatic	0	30	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B2RWP1	Frame_Shift_Del	DEL							NULL	p.A423fs	ENST00000329203.3	37	c.1267	CCDS31648.1	11																																																																																			-	NULL		0.632	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM181B	protein_coding	OTTHUMT00000391626.1	C	NM_175885			82443505	-1	no_errors	ENST00000329203	ensembl	human	known	74_37	frame_shift_del	DEL	0.832	-	-	82443505	C	-	82443505	7	5	107	1	0	1	0	1	0	0	0	0	5511	739	26	0	17	0	FAM181B	11	82443505	Frame_Shift_Del	DEL	C	TCGA-DX-A8BU-01A-11D-A37C-09	13669984	82443505	52563011	60	7084											
ZNF202	7753	genome.wustl.edu	37	chr11	123597592	123597592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcaaagactatttcccAatctggagtctggtgaattt	8	9	3	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:123597592A>G	ENST00000529691.1	-	7	1279	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R	ZNF202_ENST00000530393.1_Missense_Mutation_p.W354R|ZNF202_ENST00000336139.4_Missense_Mutation_p.W354R			O95125	ZN202_HUMAN	zinc finger protein 202	354					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTATTTCCCAATCTGGAGTC	0.408																																																	0								ENSG00000166261						127	145	139					11																	123597592		2202	4298	6500	ZNF202	SO:0001583	missense	0			-	HGNC	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1060T>C	11.37:g.123597592A>G	ENSP00000433881:p.Trp354Arg	Somatic	0	52	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.W354R	ENST00000529691.1	37	c.1060	CCDS8443.1	11	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814995	0.32053	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.05786	3.39;3.39;3.39	4.41	4.41	0.53225	.	0.150963	0.31685	N	0.007225	T	0.05044	0.0135	N	0.22421	0.69	0.34278	D	0.681773	B	0.12013	0.005	B	0.11329	0.006	T	0.25676	-1.0125	10	0.25106	T	0.35	-5.7543	11.916	0.52765	1.0:0.0:0.0:0.0	.	354	O95125	ZN202_HUMAN	R	354	ENSP00000337724:W354R;ENSP00000432504:W354R;ENSP00000433881:W354R	ENSP00000337724:W354R	W	-	1	0	ZNF202	123102802	0.002000	0.14202	0.996000	0.52242	0.854000	0.48673	1.408000	0.34668	1.973000	0.57446	0.533000	0.62120	TGG	-	NULL		0.408	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	protein_coding	OTTHUMT00000387419.1	A	NM_003455	-		123597592	-1	no_errors	ENST00000336139	ensembl	human	known	74_37	missense	SNP	0.965	G	G	123597592	A	G	123597592	3	3	107	1	0	0	0	0	1	0	0	0	17770	130	5	5	890	5	ZNF202	11	123597592	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	41154087	123597592	11408924	61	7085											
OR8B4	283162	genome.wustl.edu	37	chr11	124294278	124294278	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcacagaaggtcagtcGcagcatgcttccagtgtggg	14	9	2	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr11:124294278G>A	ENST00000356130.3	-	1	511	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R164*(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		AAGGTCAGTCGCAGCATGCTT	0.542																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000198657						91	63	73					11																	124294278		2201	4299	6500	OR8B4	SO:0001587	stop_gained	0			-	HGNC	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.490C>T	11.37:g.124294278G>A	ENSP00000348449:p.Arg164*	Somatic	0	16	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	7	68.18	B2RNF8|Q6IFQ7	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R164*	ENST00000356130.3	37	c.490	CCDS31710.1	11	.	.	.	.	.	.	.	.	.	.	g	15.83	2.950292	0.53186	.	.	ENSG00000198657	ENST00000356130	.	.	.	4.02	0.253	0.15551	.	0.106321	0.41938	D	0.000795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1545	0.20330	0.1504:0.0:0.3179:0.5317	.	.	.	.	X	164	.	ENSP00000348449:R164X	R	-	1	2	OR8B4	123799488	0.000000	0.05858	0.979000	0.43373	0.556000	0.35491	-0.751000	0.04803	0.040000	0.15660	-1.023000	0.02433	CGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	protein_coding	OTTHUMT00000387055.1	G	NM_001005196	-		124294278	-1	no_errors	ENST00000356130	ensembl	human	known	74_37	nonsense	SNP	0.747	A	A	124294278	G	A	124294278	4	1	107	1	0	0	0	0	0	1	0	0	11231	1095	38	1	441	1	OR8B4	11	124294278	Nonsense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	696686	124294278	10712238	62	7086											
CAND1	55832	genome.wustl.edu	37	chr12	67663558	67663558	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaatgacatccagcgacaagGactttaggtgaggccgagat	12	8	0	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr12:67663558G>C	ENST00000545606.1	+	1	498	c.61G>C	c.(61-63)Gac>Cac	p.D21H	CAND1_ENST00000539109.1_3'UTR	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	21					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)		CAGCGACAAGGACTTTAGGTG	0.637																																																	0								ENSG00000111530						47	42	44					12																	67663558		2203	4300	6503	CAND1	SO:0001583	missense	0			-	HGNC		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.61G>C	12.37:g.67663558G>C	ENSP00000442318:p.Asp21His	Somatic	0	21	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.D21H	ENST00000545606.1	37	c.61	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330300	0.81690	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.07688	3.17	4.2	3.31	0.37934	Armadillo-like helical (1);Armadillo-type fold (1);	0.100250	0.64402	D	0.000003	T	0.37019	0.0988	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49123	-0.8972	9	.	.	.	-0.3486	11.2881	0.49234	0.0928:0.0:0.9072:0.0	.	21	Q86VP6	CAND1_HUMAN	H	21	ENSP00000442318:D21H	.	D	+	1	0	CAND1	65949825	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.027000	0.70881	1.099000	0.41499	0.462000	0.41574	GAC	-	superfamily_ARM-type_fold		0.637	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	G	NM_018448	-		67663558	1	no_errors	ENST00000545606	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67663558	G	C	67663558	3	2	107	1	0	0	0	0	1	0	0	0	2617	1174	41	4	63	4	CAND1	12	67663558	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		67663558	66188337	63	7087											
NR2C1	7181	genome.wustl.edu	37	chr12	95422248	95422248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgttacaaaactcctgTagtttgaagatgtgctccat	8	8	0	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr12:95422248T>C	ENST00000333003.5	-	12	1776	c.1446A>G	c.(1444-1446)ctA>ctG	p.L482L	NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	482					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAAACTCCTGTAGTTTGAAGA	0.318																																																	0								ENSG00000120798						132	120	124					12																	95422248		2203	4300	6503	NR2C1	SO:0001819	synonymous_variant	0			-	HGNC	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1446A>G	12.37:g.95422248T>C		Somatic	0	81	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	82	18.00	A8K5K4|Q15625|Q15626	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L482	ENST00000333003.5	37	c.1446	CCDS9051.1	12																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.318	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	protein_coding	OTTHUMT00000407565.2	T	NM_003297	-		95422248	-1	no_errors	ENST00000333003	ensembl	human	known	74_37	silent	SNP	0.890	C	C	95422248	T	C	95422248	2	2	107	1	0	0	0	0	0	0	0	1	10624	1625	57	5		5	NR2C1	12	95422248	Silent	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09	27758690	95422248	38429647	64	7088											
KSR2	283455	genome.wustl.edu	37	chr12	118198926	118198926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagttttcgggaggagggCggtggggtccccgggggctt	20	8	1	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr12:118198926C>T	ENST00000339824.5	-	4	1603	c.876G>A	c.(874-876)ccG>ccA	p.P292P	KSR2_ENST00000425217.1_Silent_p.P263P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	292	Pro-rich.				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)			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)					GGGAGGAGGGCGGTGGGGTCC	0.677																																																	0								ENSG00000171435						100	121	114					12																	118198926		1914	4108	6022	KSR2	SO:0001819	synonymous_variant	0			-	HGNC	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.876G>A	12.37:g.118198926C>T		Somatic	0	83	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	82	15.46	A0PJT2|Q3B828|Q8N775	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P292	ENST00000339824.5	37	c.876		12																																																																																			-	NULL		0.677	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	C	NM_173598	-		118198926	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	SNP	0.297	T	T	118198926	C	T	118198926	2	4	107	1	0	0	0	0	0	0	0	1	8584	755	27	1		1	KSR2	12	118198926	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	22776678	118198926	15652969	65	7089											
MIPEP	4285	genome.wustl.edu	37	chr13	24449010	24449010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtctagatggattccaCtaatttcaaaatcaaacata	4	8	3	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr13:24449010C>A	ENST00000382172.3	-	5	676	c.578G>T	c.(577-579)aGt>aTt	p.S193I		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	193					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGGATTCCACTAATTTCAAA	0.328																																																	0								ENSG00000027001						118	123	121					13																	24449010		2203	4300	6503	MIPEP	SO:0001583	missense	0			-	HGNC		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.578G>T	13.37:g.24449010C>A	ENSP00000371607:p.Ser193Ile	Somatic	0	32	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP							pfam_Pept_M3A_M3B	p.S193I	ENST00000382172.3	37	c.578	CCDS9303.1	13	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735786	0.89482	.	.	ENSG00000027001	ENST00000382172	T	0.10382	2.88	5.68	5.68	0.88126	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.91510	3.215	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.52117	-0.8618	10	0.87932	D	0	.	19.1345	0.93420	0.0:1.0:0.0:0.0	.	193	Q99797	MIPEP_HUMAN	I	193	ENSP00000371607:S193I	ENSP00000371607:S193I	S	-	2	0	MIPEP	23347010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.713000	0.74686	2.834000	0.97654	0.655000	0.94253	AGT	-	NULL		0.328	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPEP	protein_coding	OTTHUMT00000044169.1	C		-		24449010	-1	no_errors	ENST00000382172	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24449010	C	A	24449010	3	1	107	1	0	0	0	0	1	0	0	0	9594	565	20	3	1623	3	MIPEP	13	24449010	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09		24449010	90720868	66	7090											
MYCBP2	23077	genome.wustl.edu	37	chr13	77629706	77629730	+	Frame_Shift_Del	DEL	TAGCACACATAATATGCATATCTAT	TAGCACACATAATATGCATATCTAT	-													agcatacctttctgcatttgTagcacacataatatgcatat					rs567496054		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	TAGCACACATAATATGCATATCTAT	TAGCACACATAATATGCATATCTAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr13:77629706_77629730delTAGCACACATAATATGCATATCTAT	ENST00000544440.2	-	80	13513_13537	c.13496_13520delATAGATATGCATATTATGTGTGCTA	c.(13495-13521)aatagatatgcatattatgtgtgctacfs	p.NRYAYYVCY4499fs	MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.NRYAYYVCY4499fs|MYCBP2_ENST00000407578.2_Frame_Shift_Del_p.NRYAYYVCY4537fs					MYC binding protein 2, E3 ubiquitin protein ligase											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)		TCTGCATTTGTAGCACACATAATATGCATATCTATTCATTGCATA	0.329																																																	0								ENSG00000005810																																			MYCBP2	SO:0001589	frameshift_variant	0				HGNC	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.13496_13520delATAGATATGCATATTATGTGTGCTA	13.37:g.77629706_77629730delTAGCACACATAATATGCATATCTAT	ENSP00000444596:p.Asn4499fs	Somatic					0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.N4537fs	ENST00000544440.2	37	c.13634_13610		13																																																																																			-	NULL		0.329	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	TAGCACACATAATATGCATATCTAT	NM_015057			77629730	-1	no_errors	ENST00000407578	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:0.972:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:0.998:0.947:1.000	-	-	77629730	TAGCACACATAATATGCATATCTAT	-	77629706	7	5	107	1	0	1	0	1	0	0	0	0	10020	1638	57	0	418	0	MYCBP2	13	77629706	Frame_Shift_Del	DEL	TAGCACACATAATATGCATATCTAT	TCGA-DX-A8BU-01A-11D-A37C-09	53180696	77629706	37540172	67	7091											
HEATR3	55027	genome.wustl.edu	37	chr16	50128658	50128658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagaagccataagtagtgCtttgagggcccttttgcaaa	10	8	1	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr16:50128658C>T	ENST00000299192.7	+	12	1744	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A432V|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	518										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATAAGTAGTGCTTTGAGGGCC	0.323																																																	0								ENSG00000155393						102	107	105					16																	50128658		2198	4300	6498	HEATR3	SO:0001583	missense	0			-	HGNC	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1553C>T	16.37:g.50128658C>T	ENSP00000299192:p.Ala518Val	Somatic	0	42	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.A518V	ENST00000299192.7	37	c.1553	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.156931	0.94686	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.69561	-0.41;-0.41	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68557	-0.5377	10	0.02654	T	1	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	432;518	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	V	432;518	ENSP00000285767:A432V;ENSP00000299192:A518V	ENSP00000285767:A432V	A	+	2	0	HEATR3	48686159	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.354000	0.73036	2.865000	0.98341	0.655000	0.94253	GCT	-	superfamily_ARM-type_fold		0.323	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	protein_coding	OTTHUMT00000256880.2	C	NM_182922	-		50128658	1	no_errors	ENST00000299192	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50128658	C	T	50128658	3	4	107	1	0	0	0	0	1	0	0	0	7031	797	28	2	1599	2	HEATR3	16	50128658	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09		50128658	40226095	68	7092											
ZFHX3	463	genome.wustl.edu	37	chr16	72992883	72992883	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagaccagcctggggctgctCggggccagcggcggagcccg	19	14	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr16:72992883C>G	ENST00000268489.5	-	2	1834	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	388					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)			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)				TGGGGCTGCTCGGGGCCAGCG	0.607																																																	0								ENSG00000140836						48	62	57					16																	72992883		2190	4295	6485	ZFHX3	SO:0001583	missense	0			-	HGNC	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.1162G>C	16.37:g.72992883C>G	ENSP00000268489:p.Glu388Gln	Somatic	0	31	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	D3DWS8|O15101|Q13719	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E388Q	ENST00000268489.5	37	c.1162	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	9.207	1.030038	0.19512	.	.	ENSG00000140836	ENST00000268489	T	0.74632	-0.86	4.92	4.92	0.64577	.	0.000000	0.49305	D	0.000149	T	0.77731	0.4174	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.80466	-0.1370	10	0.52906	T	0.07	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	388	Q15911	ZFHX3_HUMAN	Q	388	ENSP00000268489:E388Q	ENSP00000268489:E388Q	E	-	1	0	ZFHX3	71550384	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	4.776000	0.62354	2.448000	0.82819	0.591000	0.81541	GAG	-	NULL		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	C	NM_006885	-		72992883	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	SNP	0.998	G	G	72992883	C	G	72992883	3	3	107	1	0	0	0	0	1	0	0	0	17641	893	31	4	9985	4	ZFHX3	16	72992883	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	22864225	72992883	17361870	69	7093											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76482698	76482698	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttccacttccaccctggtCaatctcaccctgggcagcct	6	19	2	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr16:76482698C>A	ENST00000476707.1	+	5	925	c.786C>A	c.(784-786)gtC>gtA	p.V262V	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.V234V|CNTNAP4_ENST00000307431.8_Silent_p.V258V|CNTNAP4_ENST00000377504.4_Silent_p.V258V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	259	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						CCACCCTGGTCAATCTCACCC	0.463																																																	0								ENSG00000152910						112	92	99					16																	76482698		2198	4300	6498	CNTNAP4	SO:0001819	synonymous_variant	0			-	HGNC	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.786C>A	16.37:g.76482698C>A		Somatic	0	51	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	5	83.87	E9PFZ6|Q86YZ7	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V258	ENST00000476707.1	37	c.774		16																																																																																			-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.463	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	C	NM_033401	-		76482698	1	no_errors	ENST00000307431	ensembl	human	known	74_37	silent	SNP	0.939	A	A	76482698	C	A	76482698	2	1	107	1	0	0	0	0	0	0	0	1	3651	813	29	3		3	CNTNAP4	16	76482698	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	3489815	76482698	13872055	70	7094											
TP53	7157	genome.wustl.edu	37	chr17	7577514	7577515	+	Frame_Shift_Ins	INS	-	-	TA													tgacctggagtcttccagtgINStgatgatggtgaggatgggc					rs587781433		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr17:7577514_7577515insTA	ENST00000269305.4	-	7	955_956	c.766_767insTA	c.(766-768)acafs	p.T256fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T256fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T256fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T256fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.T256fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T256fs	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	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T256fs*89(4)|p.T256A(3)|p.T256fs*8(2)|p.T256I(2)|p.T256K(2)|p.T256S(2)|p.?(1)|p.T256P(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(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)	GTCTTCCAGTGTGATGATGGTG	0.594		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	32	Substitution - Missense(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Deletion - In frame(3)|Unknown(1)	central_nervous_system(6)|ovary(5)|bone(5)|breast(5)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|urinary_tract(1)|oesophagus(1)|kidney(1)|skin(1)|lung(1)	GRCh37	CM951232	TP53	M		ENSG00000141510																																			TP53	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;		HGNC	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.766_767insTA	17.37:g.7577514_7577515insTA	ENSP00000269305:p.Thr256fs	Somatic	0	50	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	14	73.08	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.T256fs	ENST00000269305.4	37	c.767_766	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546			7577515	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	INS	0.998:1.000	TA	TA	7577515	-	TA	7577514	7	5	107	1	0	1	1	0	0	0	0	0	16388	1377	48	0	523	0	TP53	17	7577514	Frame_Shift_Ins	INS	-	TCGA-DX-A8BU-01A-11D-A37C-09		7577514	73617696	71	7095											
MYH8	4626	genome.wustl.edu	37	chr17	10309387	10309387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcttctgatattctacCctcattaggaatcccctaca	3	13	4	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr17:10309387C>T	ENST00000403437.2	-	21	2497	c.2403G>A	c.(2401-2403)agG>agA	p.R801R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	801	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATATTCTACCCTCATTAGGA	0.368									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0								ENSG00000133020						164	160	162					17																	10309387		2203	4300	6503	MYH8	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant	-	HGNC		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2403G>A	17.37:g.10309387C>T		Somatic	0	60	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	11	82.54	Q14910	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R801	ENST00000403437.2	37	c.2403	CCDS11153.1	17																																																																																			-	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS		0.368	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	C	NM_002472	-		10309387	-1	no_errors	ENST00000403437	ensembl	human	known	74_37	silent	SNP	0.998	T	T	10309387	C	T	10309387	2	4	107	1	0	0	0	0	0	0	0	1	10043	622	22	2		2	MYH8	17	10309387	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	2731873	10309387	70885823	72	7096											
OR4D1	26689	genome.wustl.edu	37	chr17	56232674	56232674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtgacttttgactgcCggctccacacacccatgtat	7	14	1	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr17:56232674C>T	ENST00000268912.5	+	1	181	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	54			R -> Q (in dbSNP:rs12602205).		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)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTTGACTGCCGGCTCCACAC	0.478																																																	0								ENSG00000141194						175	173	173					17																	56232674		2106	4267	6373	OR4D1	SO:0001583	missense	0			-	HGNC	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"GPCR / Class A : Olfactory receptors"	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.160C>T	17.37:g.56232674C>T	ENSP00000365451:p.Arg54Trp	Somatic	0	78	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	80	20.00	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R54W	ENST00000268912.5	37	c.160	CCDS42365.1	17	.	.	.	.	.	.	.	.	.	.	c	11.47	1.647600	0.29246	.	.	ENSG00000141194	ENST00000268912	T	0.01152	5.26	5.63	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.795760	0.10072	U	0.719604	T	0.02649	0.0080	M	0.85373	2.75	0.09310	N	1	B	0.23591	0.088	B	0.20184	0.028	T	0.31943	-0.9925	10	0.54805	T	0.06	-1.8757	7.6792	0.28502	0.3007:0.6209:0.0:0.0784	.	54	Q15615	OR4D1_HUMAN	W	54	ENSP00000365451:R54W	ENSP00000365451:R54W	R	+	1	2	OR4D1	53587673	0.000000	0.05858	0.000000	0.03702	0.859000	0.49053	-0.729000	0.04920	0.285000	0.22329	0.543000	0.68304	CGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D1	protein_coding	OTTHUMT00000443364.1	C		-		56232674	1	no_errors	ENST00000268912	ensembl	human	known	74_37	missense	SNP	0.001	T	T	56232674	C	T	56232674	3	4	107	1	0	0	0	0	1	0	0	0	11055	643	23	1	162	1	OR4D1	17	56232674	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	45923287	56232674	24962536	73	7097											
SDK2	54549	genome.wustl.edu	37	chr17	71415426	71415426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggggccgtgggggGctcctcggggagggagaccc	22	10	0	1	rs374465306		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr17:71415426G>A	ENST00000392650.3	-	16	2065	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	SDK2_ENST00000388726.3_Missense_Mutation_p.P689S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	689					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GCCGTGGGGGGCTCCTCGGGG	0.577																																																	0								ENSG00000069188	G	SER/PRO	0,4406		0,0,2203	47	44	45		2065	4.9	1	17		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK2	NM_001144952.1	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	689/2173	71415426	1,13005	2203	4300	6503	SDK2	SO:0001583	missense	0			-	HGNC	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.2065C>T	17.37:g.71415426G>A	ENSP00000376421:p.Pro689Ser	Somatic	0	62	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P689S	ENST00000392650.3	37	c.2065	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676402	0.88445	0.0	1.16E-4	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.63255	-0.03;-0.03	4.87	4.87	0.63330	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.75935	-0.3142	10	0.41790	T	0.15	.	18.0116	0.89225	0.0:0.0:1.0:0.0	.	689;689	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	S	313;689;689;689	ENSP00000376421:P689S;ENSP00000373378:P689S	ENSP00000324967:P689S	P	-	1	0	SDK2	68927021	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.326000	0.79133	2.266000	0.75297	0.462000	0.41574	CCC	-	superfamily_Fibronectin_type3		0.577	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064	-		71415426	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71415426	G	A	71415426	3	1	107	1	0	0	0	0	1	0	0	0	13977	1203	42	2	4573	2	SDK2	17	71415426	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	15182752	71415426	9779784	74	7098											
CCDC40	55036	genome.wustl.edu	37	chr17	78039342	78039342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatcatgcagcaatgggCcagcagcctggtgggcatga	15	11	1	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr17:78039342C>T	ENST00000397545.4	+	10	1526	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A500V|CCDC40_ENST00000374877.3_Missense_Mutation_p.A500V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	500					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGCAATGGGCCAGCAGCCTG	0.652																																																	0								ENSG00000141519						52	61	58					17																	78039342		2133	4239	6372	CCDC40	SO:0001583	missense	0			-	HGNC	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1499C>T	17.37:g.78039342C>T	ENSP00000380679:p.Ala500Val	Somatic	0	45	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP							pfam_E3_ubiquit_lig_BRE1	p.A500V	ENST00000397545.4	37	c.1499	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845746	0.16963	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.81739	0.84;-1.53;0.86	4.84	-2.71	0.05986	.	.	.	.	.	T	0.64316	0.2587	L	0.43152	1.355	0.09310	N	1	P;P	0.35656	0.514;0.478	B;B	0.27170	0.077;0.072	T	0.52343	-0.8588	9	0.51188	T	0.08	-4.163	2.5005	0.04632	0.2341:0.2861:0.3426:0.1372	.	500;283	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	V	500	ENSP00000364011:A500V;ENSP00000269318:A500V;ENSP00000380679:A500V	ENSP00000269318:A500V	A	+	2	0	CCDC40	75653937	0.000000	0.05858	0.008000	0.14137	0.084000	0.17831	-0.501000	0.06398	-0.852000	0.04141	-0.972000	0.02603	GCC	-	NULL		0.652	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	protein_coding	OTTHUMT00000256005.2	C	XM_371082	-		78039342	1	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	SNP	0.000	T	T	78039342	C	T	78039342	3	4	107	1	0	0	0	0	1	0	0	0	2814	739	26	2	1537	2	CCDC40	17	78039342	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	6623916	78039342	3155868	75	7099											
CABYR	114876	genome.wustl.edu	37	chr18	21739532	21739532	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaaggtcacccatcacCgccacctgcacctgggcctt	7	18	3	0	rs143686609		TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr18:21739532C>T	ENST00000319481.3	-	0	4195				CABYR_ENST00000327201.6_Missense_Mutation_p.P115L|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.P213L|CABYR_ENST00000399496.3_Missense_Mutation_p.P213L|CABYR_ENST00000399481.2_3'UTR|CABYR_ENST00000581397.1_Missense_Mutation_p.P213L|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACCCATCACCGCCACCTGCA	0.463																																																	0								ENSG00000154040	C	,LEU/PRO,LEU/PRO,,LEU/PRO,	3,4403	6.2+/-15.9	0,3,2200	100	95	97		,344,638,,638,	4.8	1	18	dbSNP_134	97	0,8600		0,0,4300	no	utr-3,missense,missense,utr-3,missense,intron	CABYR	NM_012189.2,NM_138643.1,NM_138644.1,NM_153768.1,NM_153769.1,NM_153770.1	,98,98,,98,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,	,115/282,213/380,,213/380,	21739532	3,13003	2203	4300	6503	CABYR	SO:0001628	intergenic_variant	0			-	HGNC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739532C>T		Somatic	0	58	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	3	91.67	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP							pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.P213L	ENST00000319481.3	37	c.638	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163228	0.57476	6.81E-4	0.0	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.62232	0.04;0.04	4.85	4.85	0.62838	.	.	.	.	.	T	0.46870	0.1415	L	0.29908	0.895	0.80722	D	1	B	0.31519	0.327	B	0.28553	0.091	T	0.52238	-0.8602	9	0.87932	D	0	.	7.8238	0.29303	0.0:0.8489:0.0:0.1511	.	213	O75952-3	.	L	213;115;213	ENSP00000382419:P213L;ENSP00000382421:P213L	ENSP00000317095:P115L	P	+	2	0	CABYR	19993530	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.050000	0.49877	2.227000	0.72691	0.563000	0.77884	CCG	-	NULL		0.463	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABYR	protein_coding	OTTHUMT00000254902.1	C	NM_080597	rs143686609		21739532	1	no_errors	ENST00000399496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21739532	C	T	21739532	1	4	107	0	1	0	0	0	0	0	0	0	2538	652	23	1		1	CABYR	18	21739532	IGR	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09		21739532	56337716	76	7100											
ACSBG2	81616	genome.wustl.edu	37	chr19	6147680	6147680	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggaaggctgcaaaatccttGatcaaggtaagattcattca	9	8	3	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:6147680G>C	ENST00000586696.1	+	3	567	c.291G>C	c.(289-291)ttG>ttC	p.L97F	ACSBG2_ENST00000252669.5_Missense_Mutation_p.L97F|ACSBG2_ENST00000588304.1_Missense_Mutation_p.L47F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L97F|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	97					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAATCCTTGATCAAGGTAA	0.398																																																	0								ENSG00000130377						88	92	91					19																	6147680		2203	4300	6503	ACSBG2	SO:0001583	missense	0			-	HGNC		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.291G>C	19.37:g.6147680G>C	ENSP00000465589:p.Leu97Phe	Somatic	0	31	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.L97F	ENST00000586696.1	37	c.291	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.480194	0.01027	.	.	ENSG00000130377	ENST00000252669	T	0.38401	1.14	5.79	-11.6	0.00059	AMP-dependent synthetase/ligase (1);	0.719887	0.10367	N	0.683266	T	0.13286	0.0322	N	0.12611	0.24	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.23574	0.047;0.009	T	0.42682	-0.9437	10	0.02654	T	1	-14.833	12.7083	0.57076	0.1212:0.6662:0.1327:0.0798	.	97;97	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	F	97	ENSP00000252669:L97F	ENSP00000252669:L97F	L	+	3	2	ACSBG2	6098680	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.670000	0.05256	-1.242000	0.02523	-0.150000	0.13652	TTG	-	pfam_AMP-dep_Synth/Lig		0.398	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	protein_coding	OTTHUMT00000452898.1	G	NM_030924	-		6147680	1	no_errors	ENST00000252669	ensembl	human	known	74_37	missense	SNP	0.284	C	C	6147680	G	C	6147680	3	2	107	1	0	0	0	0	1	0	0	0	174	1281	45	4	297	4	ACSBG2	19	6147680	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		6147680	52981303	77	7101											
MUC16	94025	genome.wustl.edu	37	chr19	9047336	9047336	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aataggtgataaatgaggttGtggtctctggctcaccagaa	12	6	2	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:9047336G>C	ENST00000397910.4	-	5	34498	c.34295C>G	c.(34294-34296)aCa>aGa	p.T11432R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11434	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						AAATGAGGTTGTGGTCTCTGG	0.473																																																	0								ENSG00000181143						184	186	185					19																	9047336		1985	4169	6154	MUC16	SO:0001583	missense	0			-	HGNC	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.34295C>G	19.37:g.9047336G>C	ENSP00000381008:p.Thr11432Arg	Somatic	0	48	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T11432R	ENST00000397910.4	37	c.34295	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.123	0.390953	0.11581	.	.	ENSG00000181143	ENST00000397910	T	0.01998	4.51	3.32	2.27	0.28462	.	.	.	.	.	T	0.06280	0.0162	L	0.40543	1.245	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.21895	-1.0232	8	0.87932	D	0	.	6.6978	0.23209	0.1321:0.0:0.8679:0.0	.	11432	B5ME49	.	R	11432	ENSP00000381008:T11432R	ENSP00000381008:T11432R	T	-	2	0	MUC16	8908336	0.000000	0.05858	0.021000	0.16686	0.007000	0.05969	0.095000	0.15127	0.954000	0.37851	0.486000	0.48141	ACA	-	NULL		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9047336	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.026	C	C	9047336	G	C	9047336	3	2	107	1	0	0	0	0	1	0	0	0	9975	1377	48	4	9548	4	MUC16	19	9047336	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	2899656	9047336	50081647	78	7102											
CACNA1A	773	genome.wustl.edu	37	chr19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-													cggcccggcctggccaccgcCtgctgctgctgctgctgctg					rs16054|rs370146696	byFrequency	TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	CTGCTG	CTGCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:13318673_13318678delCTGCTG	ENST00000360228.5	-	47	6969_6974	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_ENST00000573710.2_3'UTR	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	2323	Poly-Gln.				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)			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)	TGGCCACCGCctgctgctgctgctgc	0.767																																																	0								ENSG00000141837																																			CACNA1A	SO:0001651	inframe_deletion	0				HGNC	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.6970_6975delCAGCAG	19.37:g.13318679_13318684delCTGCTG	ENSP00000353362:p.Gln2324_Gln2325del	Somatic					0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1				J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.QQ2324in_frame_del	ENST00000360228.5	37	c.6975_6970	CCDS45998.1	19																																																																																			-	NULL		0.767	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	CTGCTG	NM_000068			13318678	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	in_frame_del	DEL	0.259:0.316:0.374:0.432:0.459:0.497	-	-	13318678	CTGCTG	-	13318673	7	5	107	1	0	1	0	1	0	0	0	0	2540	680	24	0	549	0	CACNA1A	19	13318673	In_Frame_Del	DEL	CTGCTG	TCGA-DX-A8BU-01A-11D-A37C-09	4271337	13318673	45810310	79	7103											
GMIP	51291	genome.wustl.edu	37	chr19	19746001	19746001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagtctccaggcagcGcttgtggcaggtcagaaagc	15	10	2	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:19746001G>A	ENST00000203556.4	-	16	1719	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	GMIP_ENST00000587238.1_Missense_Mutation_p.R502C|GMIP_ENST00000445806.2_Missense_Mutation_p.R499C|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	528					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGCAGCGCTTGTGGCAG	0.582																																																	0								ENSG00000089639						22	25	24					19																	19746001		2203	4300	6503	GMIP	SO:0001583	missense	0			-	HGNC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1582C>T	19.37:g.19746001G>A	ENSP00000203556:p.Arg528Cys	Somatic	0	23	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	A0AVN9|B7ZLZ0	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.R528C	ENST00000203556.4	37	c.1582	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340131	0.60963	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.85411	-1.98;-1.98	5.05	5.05	0.67936	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.44902	D	0.000407	D	0.88138	0.6356	L	0.43152	1.355	0.44862	D	0.997878	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.974;0.948;0.974	D	0.88726	0.3233	10	0.87932	D	0	-18.9195	11.0719	0.48008	0.0:0.0:0.8147:0.1853	.	499;502;528	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	C	528;499	ENSP00000203556:R528C;ENSP00000397075:R499C	ENSP00000203556:R528C	R	-	1	0	GMIP	19607001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.689000	0.54706	2.355000	0.79922	0.561000	0.74099	CGC	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.582	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	protein_coding	OTTHUMT00000460551.1	G	NM_016573	-		19746001	-1	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19746001	G	A	19746001	3	1	107	1	0	0	0	0	1	0	0	0	6493	1087	38	1	1354	1	GMIP	19	19746001	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	6427328	19746001	39382982	80	7104											
ZNF569	148266	genome.wustl.edu	37	chr19	37905235	37905235	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acattcattgcctttttcttCagtcagtgttttctggaatt	6	8	5	0			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:37905235C>T	ENST00000316950.6	-	6	882	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.E109K|ZNF569_ENST00000592490.1_3'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	109					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTTTCTTCAGTCAGTGTT	0.353																																																	0								ENSG00000196437						69	67	68					19																	37905235		2203	4299	6502	ZNF569	SO:0001583	missense	0			-	HGNC	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.325G>A	19.37:g.37905235C>T	ENSP00000325018:p.Glu109Lys	Somatic	0	34	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E109K	ENST00000316950.6	37	c.325	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153743	0.01700	.	.	ENSG00000196437	ENST00000316950	T	0.06528	3.29	3.58	-0.815	0.10843	.	1.155070	0.06836	N	0.794810	T	0.03220	0.0094	N	0.16567	0.415	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.44877	-0.9299	10	0.06625	T	0.88	.	4.1748	0.10346	0.0:0.4496:0.1688:0.3817	.	109	Q5MCW4	ZN569_HUMAN	K	109	ENSP00000325018:E109K	ENSP00000325018:E109K	E	-	1	0	ZNF569	42597075	0.000000	0.05858	0.012000	0.15200	0.946000	0.59487	0.090000	0.15025	-0.157000	0.11059	-0.218000	0.12543	GAA	-	NULL		0.353	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	protein_coding	OTTHUMT00000109594.2	C	NM_152484	-		37905235	-1	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	SNP	0.048	T	T	37905235	C	T	37905235	3	4	107	1	0	0	0	0	1	0	0	0	18007	835	29	2	1739	2	ZNF569	19	37905235	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	18159234	37905235	21223748	81	7105											
SIGLEC5	8778	genome.wustl.edu	37	chr19	52130427	52130427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagatgaggcacagacAgatacagagcagggccatga	13	7	0	7			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:52130427A>T	ENST00000534261.2	-	8	1756	c.1357T>A	c.(1357-1359)Tgt>Agt	p.C453S	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.C453S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.C453S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.C453S|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.C453S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	453					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGGCACAGACAGATACAGAGC	0.517																																																	0								ENSG00000105501						116	100	105					19																	52130427		2203	4300	6503	SIGLEC5	SO:0001583	missense	0			-	HGNC	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1357T>A	19.37:g.52130427A>T	ENSP00000473238:p.Cys453Ser	Somatic	0	43	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	22	50.00		Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.C453S	ENST00000534261.2	37	c.1357	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382671	0.25031	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.56611	0.45;0.45	3.55	1.26	0.21427	.	0.811143	0.10499	N	0.667432	T	0.33030	0.0849	N	0.25245	0.725	0.09310	N	1	B	0.26708	0.157	B	0.20767	0.031	T	0.21211	-1.0252	10	0.49607	T	0.09	.	4.0012	0.09580	0.569:0.2193:0.0:0.2117	.	453	O15389	SIGL5_HUMAN	S	453	ENSP00000222107:C453S;ENSP00000415200:C453S	ENSP00000222107:C453S	C	-	1	0	SIGLEC5	56822239	0.001000	0.12720	0.003000	0.11579	0.056000	0.15407	0.998000	0.29744	0.176000	0.19873	0.413000	0.27773	TGT	-	NULL		0.517	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	protein_coding	OTTHUMT00000466897.2	A	NM_003830	-		52130427	-1	no_errors	ENST00000222107	ensembl	human	known	74_37	missense	SNP	0.004	T	T	52130427	A	T	52130427	3	4	107	1	0	0	0	0	1	0	0	0	14319	188	7	5	310	5	SIGLEC5	19	52130427	Missense_Mutation	SNP	A	TCGA-DX-A8BU-01A-11D-A37C-09	14225192	52130427	6998556	82	7106											
ZNF547	284306	genome.wustl.edu	37	chr19	57888934	57888934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatattgtttatggaaaggtCcacactcaatagacatcaga	8	7	2	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr19:57888934C>A	ENST00000282282.3	+	4	740	c.590C>A	c.(589-591)tCc>tAc	p.S197Y	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		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)		ATGGAAAGGTCCACACTCAAT	0.413																																																	0								ENSG00000152433						85	81	82					19																	57888934		2203	4300	6503	ZNF547	SO:0001583	missense	0			-	HGNC	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.590C>A	19.37:g.57888934C>A	ENSP00000282282:p.Ser197Tyr	Somatic	0	52	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K5Z9|Q96NC4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S197Y	ENST00000282282.3	37	c.590	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	C	0.497	-0.872590	0.02570	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.18502	2.21	1.87	-0.502	0.12004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17323	0.0416	M	0.64170	1.965	0.09310	N	1	P;B;P	0.49635	0.926;0.024;0.886	P;B;B	0.44359	0.447;0.008;0.259	T	0.13656	-1.0501	9	0.41790	T	0.15	.	4.6089	0.12391	0.2502:0.6008:0.0:0.149	.	197;197;197	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	Y	197	ENSP00000282282:S197Y	ENSP00000282282:S197Y	S	+	2	0	ZNF547	62580746	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	-0.822000	0.04448	-0.106000	0.12110	0.491000	0.48974	TCC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	protein_coding	OTTHUMT00000465787.1	C	NM_173631	-		57888934	1	no_errors	ENST00000282282	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57888934	C	A	57888934	3	1	107	1	0	0	0	0	1	0	0	0	17986	855	30	3	600	3	ZNF547	19	57888934	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	5758507	57888934	1240049	83	7107											
C20orf54	113278	genome.wustl.edu	37	chr20	746375	746375	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgatggtcacccaggagCccattccgaagacgcagacc	10	14	1	3			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr20:746375C>A	ENST00000217254.7	-	2	285	c.44G>T	c.(43-45)gGc>gTc	p.G15V	SLC52A3_ENST00000381944.3_Missense_Mutation_p.G15V|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	15					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CACCCAGGAGCCCATTCCGAA	0.637																																																	0								ENSG00000101276						32	34	33					20																	746375		2203	4300	6503	SLC52A3	SO:0001583	missense	0			-	HGNC	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.44G>T	20.37:g.746375C>A	ENSP00000217254:p.Gly15Val	Somatic	0	36	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP							pfam_Endogenous_retrovirus_rcpt	p.G15V	ENST00000217254.7	37	c.44	CCDS13007.1	20	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926126	0.73327	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.79845	-1.31;-1.31	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.90960	0.7158	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.983	D	0.91837	0.5480	10	0.72032	D	0.01	-24.9494	18.2483	0.89995	0.0:1.0:0.0:0.0	.	15;15	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	V	15	ENSP00000217254:G15V;ENSP00000371370:G15V	ENSP00000217254:G15V	G	-	2	0	C20orf54	694375	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.943000	0.70211	2.664000	0.90586	0.655000	0.94253	GGC	-	NULL		0.637	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	protein_coding	OTTHUMT00000077482.2	C	NM_033409	-		746375	-1	no_errors	ENST00000217254	ensembl	human	known	74_37	missense	SNP	1.000	A	A	746375	C	A	746375	3	1	107	1	0	0	0	0	1	0	0	0	2116	739	26	3	1381	3	C20orf54	20	746375	Missense_Mutation	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09		746375	62279145	84	7108											
PCSK2	5126	genome.wustl.edu	37	chr20	17339055	17339055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgacatcaacatgaaCgatcctctttttacaaagca	6	10	2	2			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr20:17339055C>T	ENST00000262545.2	+	3	681	c.366C>T	c.(364-366)aaC>aaT	p.N122N	PCSK2_ENST00000536609.1_Silent_p.N87N|PCSK2_ENST00000377899.1_Silent_p.N103N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	122					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCAACATGAACGATCCTCTTT	0.413																																																	0								ENSG00000125851						199	172	181					20																	17339055		2203	4300	6503	PCSK2	SO:0001819	synonymous_variant	0			-	HGNC	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.366C>T	20.37:g.17339055C>T		Somatic	0	71	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.N122	ENST00000262545.2	37	c.366	CCDS13125.1	20																																																																																			-	superfamily_Peptidase_S8/S53_dom		0.413	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	protein_coding	OTTHUMT00000078120.2	C	NM_002594	-		17339055	1	no_errors	ENST00000262545	ensembl	human	known	74_37	silent	SNP	0.987	T	T	17339055	C	T	17339055	2	4	107	1	0	0	0	0	0	0	0	1	11603	535	19	1		1	PCSK2	20	17339055	Silent	SNP	C	TCGA-DX-A8BU-01A-11D-A37C-09	16592680	17339055	45686465	85	7109											
CRYAA	1409	genome.wustl.edu	37	chr21	44590745	44590745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggaaagcacaacgagcGccaggtgagcccaggcactg	13	14	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chr21:44590745G>A	ENST00000291554.2	+	2	400	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CRYAA_ENST00000398132.1_Missense_Mutation_p.R66H|CRYAA_ENST00000398133.1_Missense_Mutation_p.R83H|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	103					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CACAACGAGCGCCAGGTGAGC	0.637																																																	0								ENSG00000160202						81	64	70					21																	44590745		2203	4300	6503	CRYAA	SO:0001583	missense	0			-	HGNC		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.308G>A	21.37:g.44590745G>A	ENSP00000291554:p.Arg103His	Somatic	0	55	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	Q53X53	Missense_Mutation	SNP							pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.R103H	ENST00000291554.2	37	c.308	CCDS13695.1	21	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923433	0.92319	.	.	ENSG00000160202	ENST00000291554;ENST00000398133;ENST00000398132	D;D;D	0.92911	-3.13;-3.13;-3.13	3.85	3.85	0.44370	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97487	1.0051	10	0.87932	D	0	-21.5652	15.7682	0.78143	0.0:0.0:1.0:0.0	.	103	P02489	CRYAA_HUMAN	H	103;83;66	ENSP00000291554:R103H;ENSP00000381201:R83H;ENSP00000381200:R66H	ENSP00000291554:R103H	R	+	2	0	CRYAA	43463814	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	4.780000	0.62382	1.671000	0.50874	0.561000	0.74099	CGC	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP		0.637	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	protein_coding	OTTHUMT00000195562.1	G		-		44590745	1	no_errors	ENST00000291554	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44590745	G	A	44590745	3	1	107	1	0	0	0	0	1	0	0	0	3907	1087	38	1	314	1	CRYAA	21	44590745	Missense_Mutation	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09		44590745	3539150	86	7110											
ARSE	415	genome.wustl.edu	37	chrX	2876419	2876419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtcgctggaagctgaTggtgccaaacttagcagtac	12	8	0	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chrX:2876419T>C	ENST00000381134.3	-	3	147	c.81A>G	c.(79-81)ccA>ccG	p.P27P	ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000545496.1_Silent_p.P52P	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	27					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				TGGAAGCTGATGGTGCCAAAC	0.542																																																	0								ENSG00000157399						120	82	95					X																	2876419		2203	4300	6503	ARSE	SO:0001819	synonymous_variant	0			-	HGNC	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.81A>G	X.37:g.2876419T>C		Somatic	0	12	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q53FT2|Q53FU8	Silent	SNP							pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.P52	ENST00000381134.3	37	c.156	CCDS14122.1	X																																																																																			-	NULL		0.542	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	protein_coding	OTTHUMT00000055643.1	T	NM_000047	-		2876419	-1	no_errors	ENST00000545496	ensembl	human	known	74_37	silent	SNP	0.000	C	C	2876419	T	C	2876419	2	2	107	1	0	0	0	0	0	0	0	1	990	1451	51	5		5	ARSE	23	2876419	Silent	SNP	T	TCGA-DX-A8BU-01A-11D-A37C-09		2876419	152394141	87	7111											
DMD	1756	genome.wustl.edu	37	chrX	31986600	31986600	+	De_novo_Start_OutOfFrame	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattcaatgttctgacaacaGtttgccgctgcccaatgcca	7	13	2	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chrX:31986600G>T	ENST00000474231.1	-	0	130				DMD_ENST00000378677.2_Missense_Mutation_p.T2153N|DMD_ENST00000378707.3_De_novo_Start_OutOfFrame|DMD_ENST00000541735.1_De_novo_Start_OutOfFrame|DMD_ENST00000359836.1_De_novo_Start_OutOfFrame|DMD_ENST00000343523.2_De_novo_Start_OutOfFrame|DMD_ENST00000357033.4_Missense_Mutation_p.T2157N	NM_004021.2	NP_004012	P11532	DMD_HUMAN	dystrophin						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)				TCTGACAACAGTTTGCCGCTG	0.393																																																	0								ENSG00000198947						76	67	70					X																	31986600		2202	4298	6500	DMD			0			-	HGNC	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	ENST00000474231.1:c.-911C>A	X.37:g.31986600G>T		Somatic	0	22	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.T2157N	ENST00000474231.1	37	c.6470		X	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186855	0.21870	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34275	1.37;1.37	5.37	2.57	0.30868	.	0.475587	0.14810	U	0.297118	T	0.29223	0.0727	L	0.54323	1.7	0.80722	D	1	B;B;B;B;P;B	0.36789	0.305;0.232;0.301;0.274;0.57;0.044	B;B;B;B;B;B	0.33254	0.054;0.086;0.16;0.14;0.14;0.072	T	0.02526	-1.1146	10	0.18710	T	0.47	.	9.9858	0.41841	0.0726:0.2533:0.6741:0.0	.	816;2149;2157;2153;816;813	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	N	2149;816;813;2153;2157;2157;2034	ENSP00000367948:T2153N;ENSP00000354923:T2157N	ENSP00000354923:T2157N	T	-	2	0	DMD	31896521	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	2.138000	0.42140	0.112000	0.17975	0.538000	0.68166	ACT	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.393	DMD-016	PUTATIVE	basic	protein_coding	DMD	protein_coding	OTTHUMT00000356267.1	G	NM_004006	-		31986600	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31986600	G	T	31986600	1	4	107	1	0	1	0	0	0	0	0	0	4582	1029	36	3		3	DMD	23	31986600	De_novo_Start_OutOfFrame	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	29110181	31986600	123283960	88	7112											
PAGE5	90737	genome.wustl.edu	37	chrX	55248256	55248256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccaccaactgataatcaGggtattgcacctagtgggga	11	9	1	1			TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chrX:55248256G>A	ENST00000289619.5	+	3	443	c.198G>A	c.(196-198)caG>caA	p.Q66Q	PAGE5_ENST00000374952.1_Splice_Site_p.Q46Q|PAGE5_ENST00000374955.3_Silent_p.Q46Q	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	66										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CTGATAATCAGGGTATTGCAC	0.443																																																	0								ENSG00000158639						110	76	88					X																	55248256		2203	4300	6503	PAGE5	SO:0001819	synonymous_variant	0			-	HGNC	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"cancer/testis antigen family 16, member 1", "cancer/testis antigen family 16, member 2"					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.198G>A	X.37:g.55248256G>A		Somatic	0	45	0		0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	2	96.83	Q2NL97|Q5JUL0|Q8WWL9	Silent	SNP							pfam_GAGE	p.Q66	ENST00000289619.5	37	c.198	CCDS14368.1	X																																																																																			-	pfam_GAGE		0.443	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAGE5	protein_coding	OTTHUMT00000056861.1	G	NM_130467	-		55248256	1	no_errors	ENST00000289619	ensembl	human	known	74_37	silent	SNP	0.001	A	A	55248256	G	A	55248256	2	1	107	1	0	0	0	0	0	0	0	1	11395	991	35	2		2	PAGE5	23	55248256	Silent	SNP	G	TCGA-DX-A8BU-01A-11D-A37C-09	23261656	55248256	100022304	89	7113											
ATRX	546	genome.wustl.edu	37	chrX	76937049	76937053	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-													ccagtatgtgaagacagcacTaaattttcagtcacaggctt							TCGA-DX-A8BU-01A-11D-A37C-09	TCGA-DX-A8BU-10A-01D-A37F-09	TAAAT	TAAAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	330b9068-ca47-4592-88e4-6c469c5cd907	6251e219-3da3-43e1-aba3-1ab654ae4151	g.chrX:76937049_76937053delTAAAT	ENST00000373344.5	-	9	3909_3913	c.3695_3699delATTTA	c.(3694-3699)aatttafs	p.NL1232fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.NL1194fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1232	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGACAGCACTAAATTTTCAGTCAC	0.346			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3695_3699delATTTA	X.37:g.76937049_76937053delTAAAT	ENSP00000362441:p.Asn1232fs	Somatic					0.664580411076175				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1232fs	ENST00000373344.5	37	c.3699_3695	CCDS14434.1	X																																																																																			-	NULL		0.346	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TAAAT	NM_000489			76937053	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.995:0.993:0.994	-	-	76937053	TAAAT	-	76937049	7	5	107	1	0	1	0	1	0	0	0	0	1208	1519	53	0	3887	0	ATRX	23	76937049	Frame_Shift_Del	DEL	TAAAT	TCGA-DX-A8BU-01A-11D-A37C-09	21688793	76937049	78333511	90	7114											
GABRD	2563	genome.wustl.edu	37	chr1	1957077	1957077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagctgtggctgcccgacAccttcatcgtgaacgccaag	10	14	1	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr1:1957077A>C	ENST00000378585.4	+	4	453	c.370A>C	c.(370-372)Acc>Ccc	p.T124P		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	124					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Ketazolam(DB01587)|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)	GCTGCCCGACACCTTCATCGT	0.632																																																	0								ENSG00000187730						102	98	99					1																	1957077		2203	4300	6503	GABRD	SO:0001583	missense	0			-	HGNC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.370A>C	1.37:g.1957077A>C	ENSP00000367848:p.Thr124Pro	Somatic	0	52	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	53	25.35	Q8N4N9	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T124P	ENST00000378585.4	37	c.370	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691640	0.88735	.	.	ENSG00000187730	ENST00000378585	T	0.80824	-1.42	4.54	4.54	0.55810	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89027	0.3439	10	0.72032	D	0.01	-2.7808	13.517	0.61545	1.0:0.0:0.0:0.0	.	124	O14764	GBRD_HUMAN	P	124	ENSP00000367848:T124P	ENSP00000367848:T124P	T	+	1	0	GABRD	1946937	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	8.864000	0.92294	2.042000	0.60477	0.459000	0.35465	ACC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.632	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	protein_coding	OTTHUMT00000098493.1	A	NM_000815	-		1957077	1	no_errors	ENST00000378585	ensembl	human	known	74_37	missense	SNP	1.000	C	C	1957077	A	C	1957077	3	2	108	1	0	0	0	0	1	0	0	0	6171	159	6	5	384	5	GABRD	1	1957077	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09		1957077	247293544	1	7115											
CCDC17	149483	genome.wustl.edu	37	chr1	46086576	46086576	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcaccacactcaccTgaggaatcccattcagctgc	7	18	2	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr1:46086576T>C	ENST00000528266.1	-	11	1745	c.1598A>G	c.(1597-1599)cAg>cGg	p.Q533R	CCDC17_ENST00000421127.2_Splice_Site_p.Q524R|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000343901.2_Splice_Site_p.Q501R|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	533										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CACACTCACCTGAGGAATCCC	0.592																																																	0								ENSG00000159588						52	45	48					1																	46086576		2203	4300	6503	CCDC17	SO:0001630	splice_region_variant	0			-	HGNC		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1599+1A>G	1.37:g.46086576T>C		Somatic	0	42	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP							NULL	p.Q501R	ENST00000528266.1	37	c.1502	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764164	0.89932	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.20738	2.05;2.05;2.05	5.92	5.92	0.95590	.	0.085707	0.51477	D	0.000093	T	0.47135	0.1429	M	0.71581	2.175	0.43480	D	0.995709	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.46898	-0.9158	10	0.87932	D	0	-26.7439	15.3474	0.74350	0.0:0.0:0.0:1.0	.	533;524;501	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	R	524;501;533	ENSP00000389415:Q524R;ENSP00000341451:Q501R;ENSP00000432172:Q533R	ENSP00000341451:Q501R	Q	-	2	0	CCDC17	45859163	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.444000	0.66587	2.263000	0.75096	0.533000	0.62120	CAG	-	NULL		0.592	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	protein_coding	OTTHUMT00000386833.1	T	NM_152500	-	Missense_Mutation	46086576	-1	no_errors	ENST00000343901	ensembl	human	known	74_37	missense	SNP	1.000	C	C	46086576	T	C	46086576	5	2	108	1	0	0	0	0	0	0	1	0	2795	1594	55	5	282	5	CCDC17	1	46086576	Splice_Site	SNP	T	TCGA-DX-A8BV-01A-11D-A37C-09	44129499	46086576	203164045	2	7116											
C1orf173	127254	genome.wustl.edu	37	chr1	75038857	75038857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacccagccttctgacccctTctgcttctgctgctccctct	5	20	4	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr1:75038857T>A	ENST00000326665.5	-	14	2755	c.2537A>T	c.(2536-2538)gAa>gTa	p.E846V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		846	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGACCCCTTCTGCTTCTGC	0.532																																																	0								ENSG00000178965						117	111	113					1																	75038857		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.2537A>T	1.37:g.75038857T>A	ENSP00000322609:p.Glu846Val	Somatic	0	61	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP							NULL	p.E846V	ENST00000326665.5	37	c.2537	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701652	0.68501	.	.	ENSG00000178965	ENST00000326665	T	0.18657	2.2	4.95	1.22	0.21188	.	.	.	.	.	T	0.17323	0.0416	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.03750	-1.1007	9	0.56958	D	0.05	-0.0045	6.8518	0.24018	0.0:0.0776:0.2861:0.6364	.	846	Q5RHP9	CA173_HUMAN	V	846	ENSP00000322609:E846V	ENSP00000322609:E846V	E	-	2	0	C1orf173	74811445	0.002000	0.14202	0.658000	0.29665	0.177000	0.22998	0.402000	0.20965	-0.042000	0.13535	0.460000	0.39030	GAA	-	NULL		0.532	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	T		-		75038857	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.966	A	A	75038857	T	A	75038857	3	1	108	1	0	0	0	0	1	0	0	0	2016	1783	62	5	2059	5	C1orf173	1	75038857	Missense_Mutation	SNP	T	TCGA-DX-A8BV-01A-11D-A37C-09	28952281	75038857	174211764	3	7117											
LAMC2	3918	genome.wustl.edu	37	chr1	183212350	183212350	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttcccgagccaagaccCagatcaacagccaactgcgg	9	15	1	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr1:183212350C>T	ENST00000264144.4	+	23	3462	c.3397C>T	c.(3397-3399)Cag>Tag	p.Q1133*		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1133	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCCAAGACCCAGATCAACAG	0.522																																																	0								ENSG00000058085						78	77	77					1																	183212350		2203	4300	6503	LAMC2	SO:0001587	stop_gained	0			-	HGNC	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3397C>T	1.37:g.183212350C>T	ENSP00000264144:p.Gln1133*	Somatic	0	37	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.Q1133*	ENST00000264144.4	37	c.3397	CCDS1352.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.129043|8.129043	0.98667|0.98667	.|.	.|.	ENSG00000058085|ENSG00000058085	ENST00000537180|ENST00000264144	.|.	.|.	.|.	5.02|5.02	3.98|3.98	0.46160|0.46160	.|.	.|0.363187	.|0.25925	.|N	.|0.027409	T|.	0.56352|.	0.1979|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48502|.	-0.9030|.	5|.	0.54805|0.21014	T|T	0.06|0.42	.|.	12.5752|12.5752	0.56359|0.56359	0.2507:0.7493:0.0:0.0|0.2507:0.7493:0.0:0.0	.|.	.|.	.|.	.|.	L|X	975|1133	.|.	ENSP00000438496:P975L|ENSP00000264144:Q1133X	P|Q	+|+	2|1	0|0	LAMC2|LAMC2	181478973|181478973	0.392000|0.392000	0.25229|0.25229	0.991000|0.991000	0.47740|0.47740	0.807000|0.807000	0.45602|0.45602	1.012000|1.012000	0.29924|0.29924	2.479000|2.479000	0.83701|0.83701	0.650000|0.650000	0.86243|0.86243	CCA|CAG	-	NULL		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	protein_coding	OTTHUMT00000086258.1	C	NM_005562	-		183212350	1	no_errors	ENST00000264144	ensembl	human	known	74_37	nonsense	SNP	0.346	T	T	183212350	C	T	183212350	4	4	108	1	0	0	0	0	0	1	0	0	8617	595	21	2	3495	2	LAMC2	1	183212350	Nonsense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	108173493	183212350	66038271	4	7118											
HMCN1	83872	genome.wustl.edu	37	chr1	186089277	186089277	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcaagttaaatgtccaaGgtacctaaataattcatctc	4	8	3	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr1:186089277G>A	ENST00000271588.4	+	80	12458	c.12229G>A	c.(12229-12231)Gtt>Att	p.V4077I	HMCN1_ENST00000367492.2_Splice_Site_p.V4077I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4077					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)			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						AAATGTCCAAGGTACCTAAAT	0.408																																																	0								ENSG00000143341						43	45	44					1																	186089277		2203	4300	6503	HMCN1	SO:0001630	splice_region_variant	0			-	HGNC	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.12229+1G>A	1.37:g.186089277G>A		Somatic	0	71	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	48	38.46	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V4077I	ENST00000271588.4	37	c.12229	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922398	0.92319	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36157	1.27;1.27	6.05	6.05	0.98169	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	L	0.53617	1.68	0.80722	D	1	D	0.56035	0.974	D	0.66716	0.946	T	0.44236	-0.9341	10	0.38643	T	0.18	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	4077	Q96RW7	HMCN1_HUMAN	I	4077	ENSP00000271588:V4077I;ENSP00000356462:V4077I	ENSP00000271588:V4077I	V	+	1	0	HMCN1	184355900	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.883000	0.87264	2.878000	0.98634	0.650000	0.86243	GTT	-	NULL		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	G	NM_031935	-	Missense_Mutation	186089277	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186089277	G	A	186089277	5	1	108	1	0	0	0	0	0	0	1	0	7222	1014	35	2	12547	2	HMCN1	1	186089277	Splice_Site	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	2876927	186089277	63161344	5	7119											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125547486	125547486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaacctcttagggggaacGtcatccagacagaaaggctt	10	9	2	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr2:125547486G>A	ENST00000431078.1	+	18	3121	c.2757G>A	c.(2755-2757)acG>acA	p.T919T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	919	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TAGGGGGAACGTCATCCAGAC	0.418																																																	0								ENSG00000155052						46	43	44					2																	125547486		1946	4157	6103	CNTNAP5	SO:0001819	synonymous_variant	0			-	HGNC	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.2757G>A	2.37:g.125547486G>A		Somatic	0	45	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T919	ENST00000431078.1	37	c.2757	CCDS46401.1	2																																																																																			-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.418	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G		-		125547486	1	no_errors	ENST00000431078	ensembl	human	known	74_37	silent	SNP	1.000	A	A	125547486	G	A	125547486	2	1	108	1	0	0	0	0	0	0	0	1	3652	1132	40	1		1	CNTNAP5	2	125547486	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		125547486	117651887	6	7120											
SCN2A	6326	genome.wustl.edu	37	chr2	166223861	166223861	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcattgtcttcatgattCtgctgagcagtggggctctg	11	10	5	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr2:166223861C>A	ENST00000375437.2	+	19	3945	c.3655C>A	c.(3655-3657)Ctg>Atg	p.L1219M	SCN2A_ENST00000283256.6_Missense_Mutation_p.L1219M|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1219M|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1219M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1219					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCATGATTCTGCTGAGCAG	0.428																																																	0								ENSG00000136531						157	140	146					2																	166223861		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3655C>A	2.37:g.166223861C>A	ENSP00000364586:p.Leu1219Met	Somatic	0	61	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1219M	ENST00000375437.2	37	c.3655	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172573	0.78452	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000034	D	0.98676	0.9556	M	0.78285	2.405	0.51767	D	0.999939	D;D	0.69078	0.995;0.997	D;D	0.66979	0.948;0.944	D	0.99274	1.0894	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1219;1219	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1219	ENSP00000364586:L1219M;ENSP00000349973:L1219M;ENSP00000283256:L1219M;ENSP00000364576:L1219M	ENSP00000283256:L1219M	L	+	1	2	SCN2A	165932107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.300000	0.51834	2.885000	0.99019	0.655000	0.94253	CTG	-	NULL		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166223861	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	166223861	C	A	166223861	3	1	108	1	0	0	0	0	1	0	0	0	13924	912	32	3	3821	3	SCN2A	2	166223861	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	40676375	166223861	76975512	7	7121											
ZDBF2	57683	genome.wustl.edu	37	chr2	207162097	207162097	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcattgtcaagagagcaGgtaaagtagttgattggaat	11	3	2	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr2:207162097G>T	ENST00000374423.3	+	4	574	c.188G>T	c.(187-189)aGt>aTt	p.S63I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	63							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGAGAGCAGGTAAAGTAGT	0.368																																																	0								ENSG00000204186						134	126	129					2																	207162097		1910	4120	6030	ZDBF2	SO:0001630	splice_region_variant	0			-	HGNC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.188+1G>T	2.37:g.207162097G>T		Somatic	0	36	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP							pfam_Znf_DBF,smart_Znf_DBF	p.S63I	ENST00000374423.3	37	c.188	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959685	0.34565	.	.	ENSG00000204186	ENST00000374423	T	0.17528	2.27	4.81	4.81	0.61882	.	.	.	.	.	T	0.13157	0.0319	L	0.36672	1.1	0.32449	N	0.545654	P	0.42078	0.77	B	0.29598	0.104	T	0.15464	-1.0436	9	0.66056	D	0.02	.	15.1494	0.72684	0.0:0.0:1.0:0.0	.	63	Q9HCK1	ZDBF2_HUMAN	I	63	ENSP00000363545:S63I	ENSP00000363545:S63I	S	+	2	0	ZDBF2	206870342	1.000000	0.71417	0.966000	0.40874	0.094000	0.18550	6.075000	0.71261	2.383000	0.81215	0.484000	0.47621	AGT	-	NULL		0.368	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	G	NM_020923	-	Missense_Mutation	207162097	1	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	SNP	1.000	T	T	207162097	G	T	207162097	5	4	108	1	0	0	0	0	0	0	1	0	17606	1014	35	3	194	3	ZDBF2	2	207162097	Splice_Site	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	40938236	207162097	36037276	8	7122											
IDH1	3417	genome.wustl.edu	37	chr2	209110099	209110099	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtcacttggtgtgtagGttatctctacttttccaggc	9	10	2	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr2:209110099G>C	ENST00000415913.1	-	5	845	c.464C>G	c.(463-465)aCc>aGc	p.T155S	IDH1_ENST00000345146.2_Missense_Mutation_p.T155S|IDH1_ENST00000446179.1_Missense_Mutation_p.T155S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	155					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)			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)		TGGTGTGTAGGTTATCTCTAC	0.373			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	0								ENSG00000138413						152	139	144					2																	209110099		2203	4300	6503	IDH1	SO:0001583	missense	0			-	HGNC		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.464C>G	2.37:g.209110099G>C	ENSP00000390265:p.Thr155Ser	Somatic	0	56	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP							pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.T155S	ENST00000415913.1	37	c.464	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318018	0.40996	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.66	2.76	0.32466	Isopropylmalate dehydrogenase-like domain (2);	0.357409	0.34879	N	0.003620	T	0.66167	0.2762	L	0.42632	1.34	0.41368	D	0.987479	B	0.02656	0.0	B	0.06405	0.002	T	0.63005	-0.6733	10	0.41790	T	0.15	-6.2791	7.1387	0.25543	0.2024:0.1282:0.6694:0.0	.	155	O75874	IDHC_HUMAN	S	155	ENSP00000260985:T155S;ENSP00000410513:T155S;ENSP00000390265:T155S;ENSP00000391075:T155S	ENSP00000260985:T155S	T	-	2	0	IDH1	208818344	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.312000	0.33574	1.398000	0.46701	0.561000	0.74099	ACC	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP		0.373	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G		-		209110099	-1	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	SNP	1.000	C	C	209110099	G	C	209110099	3	2	108	1	0	0	0	0	1	0	0	0	7496	1261	44	4	804	4	IDH1	2	209110099	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	1948002	209110099	34089274	9	7123											
NUP210	23225	genome.wustl.edu	37	chr3	13413491	13413491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacacgtgcctccacctgGcacggggcaaactccatgct	9	18	0	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr3:13413491G>A	ENST00000254508.5	-	13	1711	c.1629C>T	c.(1627-1629)tgC>tgT	p.C543C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	543					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCTCCACCTGGCACGGGGCAA	0.662																																																	0								ENSG00000132182						26	21	23					3																	13413491		2202	4299	6501	NUP210	SO:0001819	synonymous_variant	0			-	HGNC	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1629C>T	3.37:g.13413491G>A		Somatic	0	32	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP							pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.C543	ENST00000254508.5	37	c.1629	CCDS33704.1	3																																																																																			-	NULL		0.662	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	protein_coding	OTTHUMT00000340085.1	G	NM_024923	-		13413491	-1	no_errors	ENST00000254508	ensembl	human	known	74_37	silent	SNP	1.000	A	A	13413491	G	A	13413491	2	1	108	1	0	0	0	0	0	0	0	1	10762	1195	42	2		2	NUP210	3	13413491	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		13413491	184608939	10	7124											
RARB	5915	genome.wustl.edu	37	chr3	25636129	25636129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctcacatgtttccaaagatCttaatgaaaatcacagatct	4	10	4	3			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr3:25636129C>G	ENST00000404969.1	+	7	1131	c.1131C>G	c.(1129-1131)atC>atG	p.I377M	RARB_ENST00000437042.2_Missense_Mutation_p.I258M|RARB_ENST00000330688.4_Missense_Mutation_p.I370M|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.I258M			P10826	RARB_HUMAN	retinoic acid receptor, beta	377	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTCCAAAGATCTTAATGAAAA	0.418																																																	0								ENSG00000077092						119	113	115					3																	25636129		2203	4300	6503	RARB	SO:0001583	missense	0			-	HGNC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1131C>G	3.37:g.25636129C>G	ENSP00000385865:p.Ile377Met	Somatic	0	43	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	29	38.78	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.I377M	ENST00000404969.1	37	c.1131		3	.	.	.	.	.	.	.	.	.	.	C	1.932	-0.445682	0.04604	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.13	5.13	0.70059	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.051494	0.85682	D	0.000000	T	0.17874	0.0429	N	0.04116	-0.275	0.44611	D	0.997588	B;B	0.09022	0.002;0.001	B;B	0.24701	0.055;0.038	T	0.12477	-1.0546	10	0.11182	T	0.66	.	12.3238	0.54999	0.0:0.9221:0.0:0.0779	.	377;370	P10826;F1D8S6	RARB_HUMAN;.	M	377;377;377;258;370;258	ENSP00000373282:I377M;ENSP00000385865:I377M;ENSP00000398840:I258M;ENSP00000332296:I370M;ENSP00000391391:I258M	ENSP00000332296:I370M	I	+	3	3	RARB	25611133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.811000	0.27198	2.558000	0.86282	0.591000	0.81541	ATC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Nuc_orph_rcpt		0.418	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		C	NM_000965, NM_016152	-		25636129	1	no_errors	ENST00000404969	ensembl	human	known	74_37	missense	SNP	1.000	G	G	25636129	C	G	25636129	3	3	108	1	0	0	0	0	1	0	0	0	13061	903	32	4	1136	4	RARB	3	25636129	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	12222638	25636129	172386301	11	7125											
POU1F1	5449	genome.wustl.edu	37	chr3	87309205	87309205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgatctcttgagaagaagGtttattctgttctccaaagt	8	7	3	3	rs104893762		TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr3:87309205G>T	ENST00000350375.2	-	6	839	c.715C>A	c.(715-717)Cct>Act	p.P239T	POU1F1_ENST00000560656.1_Missense_Mutation_p.N163K|POU1F1_ENST00000344265.3_Missense_Mutation_p.P265T	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	239			P -> S (in CPHD1; loss of function). {ECO:0000269|PubMed:9626142}.		B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TGAGAAGAAGGTTTATTCTGT	0.443																																																	0			GRCh37	CM981613	POU1F1	M	rs104893762	ENSG00000064835						65	64	64					3																	87309205		2203	4300	6503	POU1F1	SO:0001583	missense	0			-	HGNC	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.715C>A	3.37:g.87309205G>T	ENSP00000263781:p.Pro239Thr	Somatic	0	38	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P265T	ENST00000350375.2	37	c.793	CCDS2919.1	3	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876364	0.72180	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.98234	-4.81;-4.81	6.07	6.07	0.98685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.96970	3.915	0.44500	D	0.997445	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98485	1.0607	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	265;239	P28069-2;P28069	.;PIT1_HUMAN	T	239;265	ENSP00000263781:P239T;ENSP00000342931:P265T	ENSP00000342931:P265T	P	-	1	0	POU1F1	87391895	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	9.441000	0.97557	2.885000	0.99019	0.655000	0.94253	CCT	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.443	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU1F1	protein_coding	OTTHUMT00000352827.1	G	NM_000306	-		87309205	-1	no_errors	ENST00000344265	ensembl	human	known	74_37	missense	SNP	1.000	T	T	87309205	G	T	87309205	3	4	108	1	0	0	0	0	1	0	0	0	12271	1261	44	3	164	3	POU1F1	3	87309205	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	61673076	87309205	110713225	12	7126											
USP13	8975	genome.wustl.edu	37	chr3	179424851	179424851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagctggacaatggagtcAggattcctccaaggtgagag	13	10	1	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr3:179424851A>G	ENST00000263966.3	+	5	1078	c.607A>G	c.(607-609)Agg>Ggg	p.R203G	USP13_ENST00000496897.1_Missense_Mutation_p.R138G|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	203					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAATGGAGTCAGGATTCCTCC	0.413																																																	0								ENSG00000058056						93	82	86					3																	179424851		2203	4300	6503	USP13	SO:0001583	missense	0			-	HGNC	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.607A>G	3.37:g.179424851A>G	ENSP00000263966:p.Arg203Gly	Somatic	0	28	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R203G	ENST00000263966.3	37	c.607	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064027	0.36373	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.29655	1.56;1.56	5.96	2.06	0.26882	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.81497	2.545	0.51767	D	0.999932	P;P	0.40476	0.602;0.718	B;B	0.43623	0.243;0.425	T	0.26643	-1.0097	10	0.29301	T	0.29	-19.7968	13.5396	0.61666	0.6298:0.3702:0.0:0.0	.	203;203	Q92995;A8K2S3	UBP13_HUMAN;.	G	203;138	ENSP00000263966:R203G;ENSP00000417146:R138G	ENSP00000263966:R203G	R	+	1	2	USP13	180907545	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	1.759000	0.38420	0.100000	0.17581	-0.323000	0.08544	AGG	-	pirsf_Ubiquitinyl_hydrolase		0.413	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	protein_coding	OTTHUMT00000349617.1	A		-		179424851	1	no_errors	ENST00000263966	ensembl	human	known	74_37	missense	SNP	1.000	G	G	179424851	A	G	179424851	3	3	108	1	0	0	0	0	1	0	0	0	17051	179	7	5	625	5	USP13	3	179424851	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	92115646	179424851	18597579	13	7127											
ATP13A5	344905	genome.wustl.edu	37	chr3	193081133	193081133	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtgtggataagtagagGcagaataccttcttcctcat	9	8	3	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr3:193081133G>T	ENST00000342358.4	-	3	393	c.276C>A	c.(274-276)tgC>tgA	p.C92*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	92						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)		ATAAGTAGAGGCAGAATACCT	0.418																																																	0								ENSG00000187527						92	91	91					3																	193081133		2203	4300	6503	ATP13A5	SO:0001587	stop_gained	0			-	HGNC	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.276C>A	3.37:g.193081133G>T	ENSP00000341942:p.Cys92*	Somatic	0	52	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q6UWS4|Q6ZWL0	Nonsense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.C92*	ENST00000342358.4	37	c.276	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577839	0.86645	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	.	.	.	5.06	-1.05	0.10036	.	0.281157	0.32640	N	0.005837	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.2468	9.9906	0.41868	0.4497:0.0:0.5503:0.0	.	.	.	.	X	92;114	.	ENSP00000341942:C92X	C	-	3	2	ATP13A5	194563827	0.715000	0.27946	0.313000	0.25210	0.988000	0.76386	0.068000	0.14531	-0.329000	0.08527	0.655000	0.94253	TGC	-	pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V		0.418	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	protein_coding	OTTHUMT00000343012.1	G	NM_198505	-		193081133	-1	no_errors	ENST00000342358	ensembl	human	known	74_37	nonsense	SNP	0.886	T	T	193081133	G	T	193081133	4	4	108	1	0	0	0	0	0	1	0	0	1127	1195	42	3	3490	3	ATP13A5	3	193081133	Nonsense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	13656282	193081133	4941297	14	7128											
SULT1E1	6783	genome.wustl.edu	37	chr4	70715166	70715166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctaccctgtccttgcAtgaatttctccacaaactct	4	14	2	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr4:70715166A>T	ENST00000226444.3	-	5	597	c.485T>A	c.(484-486)aTg>aAg	p.M162K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	162					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CTGTCCTTGCATGAATTTCTC	0.378																																																	0								ENSG00000109193						67	72	70					4																	70715166		2203	4300	6503	SULT1E1	SO:0001583	missense	0			-	HGNC	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.485T>A	4.37:g.70715166A>T	ENSP00000226444:p.Met162Lys	Somatic	0	96	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	82	18.00	Q8N6X5	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.M162K	ENST00000226444.3	37	c.485	CCDS3531.1	4	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763618	0.49574	.	.	ENSG00000109193	ENST00000226444	D	0.82433	-1.61	3.85	3.85	0.44370	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.90309	3.105	0.58432	D	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72625	0.978;0.978	D	0.91857	0.5496	10	0.52906	T	0.07	.	11.287	0.49228	1.0:0.0:0.0:0.0	.	162;162	Q53X91;P49888	.;ST1E1_HUMAN	K	162	ENSP00000226444:M162K	ENSP00000226444:M162K	M	-	2	0	SULT1E1	70749755	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	7.371000	0.79600	1.986000	0.57962	0.528000	0.53228	ATG	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.378	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	protein_coding	OTTHUMT00000251559.1	A	NM_005420	-		70715166	-1	no_errors	ENST00000226444	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70715166	A	T	70715166	3	4	108	1	0	0	0	0	1	0	0	0	15387	217	8	5	415	5	SULT1E1	4	70715166	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09		70715166	120439110	15	7129											
SLC10A7	84068	genome.wustl.edu	37	chr4	147227160	147227160	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaagaagatgaaccaAgctgtaaaacaagaaaatag	9	6	0	5			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr4:147227160A>G	ENST00000507030.1	-	7	472	c.473T>C	c.(472-474)cTt>cCt	p.L158P	SLC10A7_ENST00000394062.3_Splice_Site_p.L158P|SLC10A7_ENST00000335472.7_Splice_Site_p.L158P|SLC10A7_ENST00000432059.2_Splice_Site_p.L145P|SLC10A7_ENST00000264986.3_3'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	158					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGATGAACCAAGCTGTAAAAC	0.348																																																	0								ENSG00000120519						70	66	67					4																	147227160		2203	4300	6503	SLC10A7	SO:0001630	splice_region_variant	0			-	HGNC	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.472-1T>C	4.37:g.147227160A>G		Somatic	0	42	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP							pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.L158P	ENST00000507030.1	37	c.473	CCDS34073.1	4	.	.	.	.	.	.	.	.	.	.	A	22.4	4.278792	0.80692	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062	.	.	.	5.95	5.95	0.96441	.	0.057870	0.64402	D	0.000001	D	0.83755	0.5323	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.982;0.989;0.974	D	0.86385	0.1732	9	0.87932	D	0	-17.4096	16.4237	0.83790	1.0:0.0:0.0:0.0	.	145;158;158	Q0GE19-3;Q0GE19;Q0GE19-2	.;NTCP7_HUMAN;.	P	145;158;158;158	.	ENSP00000334594:L158P	L	-	2	0	SLC10A7	147446610	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.842000	0.86851	2.279000	0.76181	0.533000	0.62120	CTT	-	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr		0.348	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	protein_coding	OTTHUMT00000366932.1	A	NM_032128	-	Missense_Mutation	147227160	-1	no_errors	ENST00000394062	ensembl	human	known	74_37	missense	SNP	1.000	G	G	147227160	A	G	147227160	5	3	108	1	0	0	0	0	0	0	1	0	14387	86	3	5	573	5	SLC10A7	4	147227160	Splice_Site	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	76511994	147227160	43927116	16	7130											
ZFR	51663	genome.wustl.edu	37	chr5	32379260	32379260	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagttggaactcgctgacaGaggtctcgaagaatgcgtat	12	8	1	3			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:32379260G>A	ENST00000265069.8	-	17	2898	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	ZFR_ENST00000510369.1_5'UTR|AC008949.1_ENST00000411029.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	932	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTCGCTGACAGAGGTCTCGAA	0.388																																																	0								ENSG00000056097						81	78	79					5																	32379260		2203	4300	6503	ZFR	SO:0001819	synonymous_variant	0			-	HGNC	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2796C>T	5.37:g.32379260G>A		Somatic	0	21	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP							pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.L932	ENST00000265069.8	37	c.2796	CCDS34139.1	5																																																																																			-	pfam_DZF,smart_DZF		0.388	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	protein_coding	OTTHUMT00000366586.1	G		-		32379260	-1	no_errors	ENST00000265069	ensembl	human	known	74_37	silent	SNP	0.993	A	A	32379260	G	A	32379260	2	1	108	1	0	0	0	0	0	0	0	1	17666	929	33	2		2	ZFR	5	32379260	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		32379260	148536000	17	7131											
C9	735	genome.wustl.edu	37	chr5	39342252	39342252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaggggctcattctgcagtCtatgtgtgatgcagagccac	12	11	3	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:39342252C>G	ENST00000263408.4	-	2	219	c.124G>C	c.(124-126)Gac>Cac	p.D42H	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	42	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATTCTGCAGTCTATGTGTGAT	0.453																																																	0								ENSG00000113600						169	141	150					5																	39342252		2203	4300	6503	C9	SO:0001583	missense	0			-	HGNC		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.124G>C	5.37:g.39342252C>G	ENSP00000263408:p.Asp42His	Somatic	0	58	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	93	9.71		Missense_Mutation	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.D42H	ENST00000263408.4	37	c.124	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305721	0.60305	.	.	ENSG00000113600	ENST00000263408	T	0.21031	2.03	5.51	5.51	0.81932	.	0.099071	0.64402	D	0.000003	T	0.46776	0.1410	M	0.75777	2.31	0.51233	D	0.999915	D	0.89917	1.0	D	0.73380	0.98	T	0.44802	-0.9304	10	0.72032	D	0.01	-25.6663	14.9066	0.70724	0.0:1.0:0.0:0.0	.	42	P02748	CO9_HUMAN	H	42	ENSP00000263408:D42H	ENSP00000263408:D42H	D	-	1	0	C9	39378009	0.998000	0.40836	1.000000	0.80357	0.304000	0.27724	2.667000	0.46808	2.582000	0.87167	0.655000	0.94253	GAC	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.453	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	protein_coding	OTTHUMT00000211576.3	C		-		39342252	-1	no_errors	ENST00000263408	ensembl	human	known	74_37	missense	SNP	1.000	G	G	39342252	C	G	39342252	3	3	108	1	0	0	0	0	1	0	0	0	2445	913	32	4	1595	4	C9	5	39342252	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	6962992	39342252	141573008	18	7132											
PLCXD3	345557	genome.wustl.edu	37	chr5	41313778	41313778	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgacagtgctgataaAgtcaccaagttctacaaaat	6	8	2	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:41313778A>T	ENST00000377801.3	-	3	981	c.907T>A	c.(907-909)Ttt>Att	p.F303I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F303I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	303					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGCTGATAAAGTCACCAAGT	0.453																																																	0								ENSG00000182836						125	111	116					5																	41313778		2203	4300	6503	PLCXD3	SO:0001583	missense	0			-	HGNC		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.907T>A	5.37:g.41313778A>T	ENSP00000367032:p.Phe303Ile	Somatic	0	34	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	A6NL04	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.F303I	ENST00000377801.3	37	c.907	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	A	34	5.302475	0.95601	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.046906	0.85682	D	0.000000	T	0.73969	0.3655	M	0.72894	2.215	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.70615	-0.4823	9	0.15952	T	0.53	-11.6682	15.8879	0.79264	1.0:0.0:0.0:0.0	.	303	Q63HM9	PLCX3_HUMAN	I	303	.	ENSP00000333751:F303I	F	-	1	0	PLCXD3	41349535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.886000	0.92447	2.163000	0.67991	0.533000	0.62120	TTT	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.453	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	protein_coding	OTTHUMT00000367109.1	A	XM_293875	-		41313778	-1	no_errors	ENST00000328457	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41313778	A	T	41313778	3	4	108	1	0	0	0	0	1	0	0	0	12045	72	3	5	62	5	PLCXD3	5	41313778	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	1971526	41313778	139601482	19	7133											
ACSL6	23305	genome.wustl.edu	37	chr5	131298244	131298244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttaagctgtccccaTggacatagatttgcgccaca	7	13	1	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:131298244T>C	ENST00000379240.1	-	18	1919	c.1766A>G	c.(1765-1767)cAt>cGt	p.H589R	ACSL6_ENST00000379264.2_Missense_Mutation_p.H614R|ACSL6_ENST00000379272.2_Missense_Mutation_p.H604R|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000296869.4_Missense_Mutation_p.H614R|ACSL6_ENST00000379249.3_Missense_Mutation_p.H589R|ACSL6_ENST00000357096.1_Missense_Mutation_p.H514R|ACSL6_ENST00000379255.1_Missense_Mutation_p.H514R|ACSL6_ENST00000543479.1_Missense_Mutation_p.H589R|ACSL6_ENST00000431707.1_Missense_Mutation_p.H569R|ACSL6_ENST00000379246.1_Missense_Mutation_p.H600R|ACSL6_ENST00000544770.1_Missense_Mutation_p.H498R|ACSL6_ENST00000379244.1_Missense_Mutation_p.H589R			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	589					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGTCCCCATGGACATAGAT	0.468																																																	0								ENSG00000164398						82	77	79					5																	131298244		2203	4300	6503	ACSL6	SO:0001583	missense	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1766A>G	5.37:g.131298244T>C	ENSP00000368542:p.His589Arg	Somatic	0	27	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.H614R	ENST00000379240.1	37	c.1841		5	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246085	0.80024	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;0.992;0.999;0.995;0.997;0.995	D;D;P;D;D;D;D	0.79784	0.993;0.962;0.899;0.984;0.962;0.975;0.962	T	0.73512	-0.3959	10	0.87932	D	0	.	15.7884	0.78326	0.0:0.0:0.0:1.0	.	589;604;579;589;514;614;614	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	R	589;614;604;514;514;614;600;589;498;589;569;589	ENSP00000368551:H589R;ENSP00000368566:H614R;ENSP00000368574:H604R;ENSP00000349608:H514R;ENSP00000368557:H514R;ENSP00000296869:H614R;ENSP00000368548:H600R;ENSP00000368546:H589R;ENSP00000445154:H498R;ENSP00000368542:H589R;ENSP00000413329:H569R;ENSP00000442124:H589R	ENSP00000296869:H614R	H	-	2	0	ACSL6	131326143	1.000000	0.71417	0.990000	0.47175	0.832000	0.47134	7.953000	0.87836	2.144000	0.66660	0.459000	0.35465	CAT	-	NULL		0.468	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	T	NM_015256	-		131298244	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	SNP	1.000	C	C	131298244	T	C	131298244	3	2	108	1	0	0	0	0	1	0	0	0	181	1464	51	5	343	5	ACSL6	5	131298244	Missense_Mutation	SNP	T	TCGA-DX-A8BV-01A-11D-A37C-09	89984466	131298244	49617016	20	7134											
TGFBI	7045	genome.wustl.edu	37	chr5	135382982	135382982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtaactgtgaactgtgCccggctgctgaaagccgacc	12	11	0	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:135382982C>T	ENST00000442011.2	+	6	805	c.644C>T	c.(643-645)gCc>gTc	p.A215V	TGFBI_ENST00000305126.8_Missense_Mutation_p.A215V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	215	FAS1 1. {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)			GTGAACTGTGCCCGGCTGCTG	0.527																																																	0								ENSG00000120708						108	104	105					5																	135382982		2068	4213	6281	TGFBI	SO:0001583	missense	0			-	HGNC	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.644C>T	5.37:g.135382982C>T	ENSP00000416330:p.Ala215Val	Somatic	0	49	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP							pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.A215V	ENST00000442011.2	37	c.644	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.296708	0.95574	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.92397	-3.03;-3.03	6.04	6.04	0.98038	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95855	0.8878	10	0.48119	T	0.1	-27.5502	20.5792	0.99380	0.0:1.0:0.0:0.0	.	215	Q15582	BGH3_HUMAN	V	215	ENSP00000416330:A215V;ENSP00000306306:A215V	ENSP00000306306:A215V	A	+	2	0	TGFBI	135410881	1.000000	0.71417	0.955000	0.39395	0.713000	0.41058	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GCC	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.527	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	protein_coding	OTTHUMT00000372108.1	C		-		135382982	1	no_errors	ENST00000305126	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135382982	C	T	135382982	3	4	108	1	0	0	0	0	1	0	0	0	15827	739	26	2	666	2	TGFBI	5	135382982	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	4084738	135382982	45532278	21	7135											
HNRNPA0	10949	genome.wustl.edu	37	chr5	137089075	137089076	+	In_Frame_Ins	INS	-	-	CCG													aggcattgtagccgccgcctINSccgccgccgccgtaaccacc							TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:137089075_137089076insCCG	ENST00000314940.4	-	1	963_964	c.680_681insCGG	c.(679-681)gga>ggCGGa	p.227_227G>GG		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	227	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			agccgccgcctccgccgccgcc	0.723																																																	0								ENSG00000177733			19,2353		7,5,1174						-4	0			5	59,5139		13,33,2553	no	coding	HNRNPA0	NM_006805.3		20,38,3727	A1A1,A1R,RR		1.1351,0.801,1.0304				78,7492				HNRNPA0	SO:0001652	inframe_insertion	0				HGNC	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.678_680dupCGG	5.37:g.137089082_137089084dupCCG	ENSP00000316042:p.Gly230dup	Somatic	0	12	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	Q6IB18	In_Frame_Ins	INS							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.231in_frame_insG	ENST00000314940.4	37	c.681_680	CCDS4193.1	5																																																																																			-	NULL		0.723	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA0	protein_coding	OTTHUMT00000251221.1	-	NM_006805			137089076	-1	no_errors	ENST00000314940	ensembl	human	known	74_37	in_frame_ins	INS	0.019:0.578	CCG	CCG	137089076	-	CCG	137089075	7	5	108	1	0	1	1	0	0	0	0	0	7258	1538	54	0	240	0	HNRNPA0	5	137089075	In_Frame_Ins	INS	-	TCGA-DX-A8BV-01A-11D-A37C-09	1706093	137089075	43826185	22	7136											
PCDHA12	56137	genome.wustl.edu	37	chr5	140256852	140256852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcgcgcggtggacGctgactccggctataacgct	14	12	0	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:140256852G>A	ENST00000398631.2	+	1	1795	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	599	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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGGACGCTGACTCCGG	0.682																																					Pancreas(113;759 1672 13322 24104 50104)												0								ENSG00000251664						473	412	432					5																	140256852		2203	4299	6502	PCDHA12	SO:0001583	missense	0			-	HGNC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1795G>A	5.37:g.140256852G>A	ENSP00000381628:p.Ala599Thr	Somatic	0	132	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	105	11.02	O75278|Q2M1N8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A599T	ENST00000398631.2	37	c.1795	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552986	0.65425	.	.	ENSG00000251664	ENST00000398631	T	0.55234	0.53	4.56	3.62	0.41486	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72669	0.3489	M	0.89534	3.04	0.24087	N	0.995927	D;D	0.69078	0.997;0.997	P;P	0.60236	0.794;0.871	T	0.64351	-0.6428	9	0.72032	D	0.01	.	11.1605	0.48512	0.0:0.0:0.6786:0.3214	.	599;599	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	599	ENSP00000381628:A599T	ENSP00000381628:A599T	A	+	1	0	PCDHA12	140237036	0.948000	0.32251	0.991000	0.47740	0.535000	0.34838	4.009000	0.57110	2.074000	0.62210	0.561000	0.74099	GCT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	protein_coding	OTTHUMT00000372882.2	G	NM_018903	-		140256852	1	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140256852	G	A	140256852	3	1	108	1	0	0	0	0	1	0	0	0	11524	1087	38	1	1797	1	PCDHA12	5	140256852	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	3167777	140256852	40658408	23	7137											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140710512	140710512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagcttgatcaccgcGcgcaggatagaccgggagga	16	10	1	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:140710512G>A	ENST00000517417.1	+	1	261	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PCDHGA1_ENST00000378105.3_Silent_p.A87A|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	87	Cadherin 1. {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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCACCGCGCGCAGGATAG	0.537																																																	0								ENSG00000204956						109	122	117					5																	140710512		2203	4300	6503	PCDHGA1	SO:0001819	synonymous_variant	0			-	HGNC	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.261G>A	5.37:g.140710512G>A		Somatic	0	28	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q2M273|Q9Y5D6	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A87	ENST00000517417.1	37	c.261	CCDS54922.1	5																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.537	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	G	NM_018912	-		140710512	1	no_errors	ENST00000517417	ensembl	human	known	74_37	silent	SNP	0.004	A	A	140710512	G	A	140710512	2	1	108	1	0	0	0	0	0	0	0	1	11552	1074	38	1		1	PCDHGA1	5	140710512	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	453660	140710512	40204748	24	7138											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140736262	140736262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagacaccttccagggtGcacctctgtcctcctatgtc	8	16	1	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:140736262G>A	ENST00000571252.1	+	1	1495	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	499	Cadherin 5. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCAGGGTGCACCTCTGTC	0.517																																																	0								ENSG00000262576						128	135	133					5																	140736262		2096	4256	6352	PCDHGA4	SO:0001583	missense	0			-	HGNC	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1495G>A	5.37:g.140736262G>A	ENSP00000458570:p.Ala499Thr	Somatic	0	39	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12	Q9Y5D3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A499T	ENST00000571252.1	37	c.1495	CCDS58979.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	G	NM_018917	-		140736262	1	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140736262	G	A	140736262	3	1	108	1	0	0	0	0	1	0	0	0	11558	1319	46	2	1497	2	PCDHGA4	5	140736262	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	25750	140736262	40178998	25	7139											
TRIM41	90933	genome.wustl.edu	37	chr5	180651182	180651184	+	In_Frame_Del	DEL	GGA	GGA	-													gacagagatgagttagatcgGgaggaggaggaggaggacgg					rs539435490|rs73365903	byFrequency	TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr5:180651182_180651184delGGA	ENST00000315073.5	+	1	893_895	c.183_185delGGA	c.(181-186)cgggag>cgg	p.E66del	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_In_Frame_Del_p.E66del|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	66	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTTAGATCGggaggaggaggag	0.631																																																	0								ENSG00000146063																																			TRIM41	SO:0001651	inframe_deletion	0				HGNC	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.183_185delGGA	5.37:g.180651191_180651193delGGA	ENSP00000320869:p.Glu66del	Somatic	0	36	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	In_Frame_Del	DEL							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E65in_frame_del	ENST00000315073.5	37	c.183_185	CCDS4466.1	5																																																																																			-	smart_Znf_RING		0.631	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	protein_coding	OTTHUMT00000253574.3	GGA	NM_201627			180651184	1	no_errors	ENST00000315073	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000	-	-	180651184	GGA	-	180651182	7	5	108	1	0	1	0	1	0	0	0	0	16523	1219	43	0	185	0	TRIM41	5	180651182	In_Frame_Del	DEL	GGA	TCGA-DX-A8BV-01A-11D-A37C-09	39914920	180651182	264078	26	7140											
OR10C1	442194	genome.wustl.edu	37	chr6	29407999	29407999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgcaccctctcggccttggaGattggctatacgtctgtcac	10	14	3	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr6:29407999G>C	ENST00000444197.2	+	1	917	c.207G>C	c.(205-207)gaG>gaC	p.E69D	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGGCCTTGGAGATTGGCTATA	0.572																																																	0								ENSG00000206474						176	154	161					6																	29407999		1511	2708	4219	OR10C1	SO:0001583	missense	0			-	HGNC		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.207G>C	6.37:g.29407999G>C	ENSP00000419119:p.Glu69Asp	Somatic	0	56	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	Q5SUN7|Q96R18	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E69D	ENST00000444197.2	37	c.207	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	G	3.194	-0.165267	0.06461	.	.	ENSG00000206474	ENST00000444197	T	0.00008	9.61	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001313	T	0.00012	0.0000	N	0.21240	0.645	0.22975	N	0.998488	B	0.18461	0.028	B	0.24394	0.053	T	0.49835	-0.8897	10	0.15499	T	0.54	.	2.6706	0.05066	0.1058:0.1827:0.5232:0.1884	.	69	Q96KK4	O10C1_HUMAN	D	69	ENSP00000419119:E69D	ENSP00000419119:E69D	E	+	3	2	OR10C1	29515978	0.000000	0.05858	0.633000	0.29310	0.011000	0.07611	-0.801000	0.04550	2.008000	0.58898	0.430000	0.28490	GAG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	protein_coding	OTTHUMT00000076415.2	G		-		29407999	1	no_errors	ENST00000444197	ensembl	human	known	74_37	missense	SNP	0.558	C	C	29407999	G	C	29407999	3	2	108	1	0	0	0	0	1	0	0	0	10900	933	33	4	209	4	OR10C1	6	29407999	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		29407999	141707068	27	7141											
GRIK2	2898	genome.wustl.edu	37	chr6	102307208	102307208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgacaaacctctctatgGtaatgatcgatttgaaggct	9	8	2	3			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr6:102307208G>T	ENST00000421544.1	+	10	1854	c.1364G>T	c.(1363-1365)gGt>gTt	p.G455V	GRIK2_ENST00000369138.1_Missense_Mutation_p.G455V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G455V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G455V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G406V|GRIK2_ENST00000413795.1_Missense_Mutation_p.G455V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	455					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)	CCTCTCTATGGTAATGATCGA	0.348																																																	0								ENSG00000164418						133	125	128					6																	102307208		2203	4300	6503	GRIK2	SO:0001583	missense	0			-	HGNC		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.1364G>T	6.37:g.102307208G>T	ENSP00000397026:p.Gly455Val	Somatic	0	32	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G455V	ENST00000421544.1	37	c.1364	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718954	0.89205	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.91	4.91	0.64330	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.117912	0.64402	D	0.000019	D	0.91466	0.7306	M	0.92738	3.34	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	0.93428	0.6783	10	0.87932	D	0	.	18.456	0.90721	0.0:0.0:1.0:0.0	.	455;455;455	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	455;455;455;455;455;455;406;417;168;54	ENSP00000397026:G455V;ENSP00000405596:G455V;ENSP00000358134:G455V;ENSP00000358133:G455V;ENSP00000313276:G455V;ENSP00000358130:G406V;ENSP00000391988:G168V;ENSP00000407140:G54V	ENSP00000313276:G455V	G	+	2	0	GRIK2	102413901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.401000	0.81631	0.591000	0.81541	GGT	-	pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.348	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	G		-		102307208	1	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102307208	G	T	102307208	3	4	108	1	0	0	0	0	1	0	0	0	6776	1261	44	3	1402	3	GRIK2	6	102307208	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	72899209	102307208	68807859	28	7142											
TSPYL4	23270	genome.wustl.edu	37	chr6	116574399	116574399	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagctgggggtggtttcgaAaggcagtaacccagaaacct	13	9	0	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr6:116574399A>T	ENST00000420283.1	-	1	862	c.773T>A	c.(772-774)tTt>tAt	p.F258Y	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	258					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GTGGTTTCGAAAGGCAGTAAC	0.502																																																	0								ENSG00000187189						43	44	44					6																	116574399		1957	4177	6134	TSPYL4	SO:0001583	missense	0			-	HGNC		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.773T>A	6.37:g.116574399A>T	ENSP00000410943:p.Phe258Tyr	Somatic	0	49	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP							pfam_NAP_family	p.F258Y	ENST00000420283.1	37	c.773	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304316	0.81136	.	.	ENSG00000187189	ENST00000420283	T	0.28895	1.59	3.98	3.98	0.46160	.	0.240961	0.21786	N	0.069136	T	0.55768	0.1941	M	0.93462	3.42	0.40339	D	0.979013	D	0.76494	0.999	D	0.77557	0.99	T	0.67325	-0.5699	10	0.87932	D	0	-5.9792	11.5154	0.50518	1.0:0.0:0.0:0.0	.	258	Q9UJ04	TSYL4_HUMAN	Y	258	ENSP00000410943:F258Y	ENSP00000410943:F258Y	F	-	2	0	TSPYL4	116681092	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	3.497000	0.53295	2.035000	0.60131	0.379000	0.24179	TTT	-	pfam_NAP_family		0.502	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	protein_coding	OTTHUMT00000041934.2	A		-		116574399	-1	no_errors	ENST00000420283	ensembl	human	known	74_37	missense	SNP	0.991	T	T	116574399	A	T	116574399	3	4	108	1	0	0	0	0	1	0	0	0	16668	14	1	5	475	5	TSPYL4	6	116574399	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	14267191	116574399	54540668	29	7143											
IGF2BP3	10643	genome.wustl.edu	37	chr7	23509681	23509681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgaagatactttctaggtCcgagggggcggcgttctcgc	14	10	2	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr7:23509681C>A	ENST00000258729.3	-	1	405	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	17	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTTTCTAGGTCCGAGGGGGCG	0.493																																																	0								ENSG00000136231						79	91	87					7																	23509681		2203	4300	6503	IGF2BP3	SO:0001583	missense	0			-	HGNC	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.49G>T	7.37:g.23509681C>A	ENSP00000258729:p.Asp17Tyr	Somatic	0	91	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.D17Y	ENST00000258729.3	37	c.49	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341423	0.81911	.	.	ENSG00000136231	ENST00000258729	T	0.12774	2.65	4.09	4.09	0.47781	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.44993	0.1320	M	0.93375	3.41	0.80722	D	1	P	0.51240	0.943	P	0.59424	0.857	T	0.63051	-0.6723	10	0.72032	D	0.01	-12.1306	16.2899	0.82742	0.0:1.0:0.0:0.0	.	17	O00425	IF2B3_HUMAN	Y	17	ENSP00000258729:D17Y	ENSP00000258729:D17Y	D	-	1	0	IGF2BP3	23476206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	1.800000	0.52685	0.557000	0.71058	GAC	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.493	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	protein_coding	OTTHUMT00000250243.2	C	NM_006547	-		23509681	-1	no_errors	ENST00000258729	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23509681	C	A	23509681	3	1	108	1	0	0	0	0	1	0	0	0	7577	855	30	3	1750	3	IGF2BP3	7	23509681	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09		23509681	135628982	30	7144											
TAS2R38	5726	genome.wustl.edu	37	chr7	141672786	141672786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccaggctggggtcaCgagagtttctggtatagacc	15	10	2	2	rs144212167	byFrequency	TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr7:141672786C>T	ENST00000547270.1	-	1	787	c.704G>A	c.(703-705)cGt>cAt	p.R235H		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	235					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)					GCTGGGGTCACGAGAGTTTCT	0.498																																																	0								ENSG00000257138	C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	69	71	71		704	-0.3	0	7	dbSNP_134	71	0,8600		0,0,4300	yes	missense	TAS2R38	NM_176817.4	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	235/334	141672786	4,13002	2203	4300	6503	TAS2R38	SO:0001583	missense	0			-	HGNC	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.704G>A	7.37:g.141672786C>T	ENSP00000448219:p.Arg235His	Somatic	0	71	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP							pfam_TAS2_rcpt	p.R235H	ENST00000547270.1	37	c.704	CCDS34765.1	7	.	.	.	.	.	.	.	.	.	.	C	9.681	1.149189	0.21288	9.08E-4	0.0	ENSG00000257138	ENST00000547270	T	0.01005	5.45	5.06	-0.291	0.12843	.	1.245380	0.06020	N	0.651109	T	0.01695	0.0054	M	0.66297	2.02	0.09310	N	1	P	0.37398	0.593	B	0.36464	0.225	T	0.45440	-0.9261	10	0.62326	D	0.03	.	8.0574	0.30612	0.0:0.5193:0.0:0.4807	.	235	P59533	T2R38_HUMAN	H	235	ENSP00000448219:R235H	ENSP00000331291:R235H	R	-	2	0	TAS2R38	141319255	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.985000	0.03751	-0.238000	0.09724	-0.150000	0.13652	CGT	-	pfam_TAS2_rcpt		0.498	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	protein_coding	OTTHUMT00000350810.2	C	NM_176817	rs144212167		141672786	-1	no_errors	ENST00000547270	ensembl	human	known	74_37	missense	SNP	0.000	T	T	141672786	C	T	141672786	3	4	108	1	0	0	0	0	1	0	0	0	15582	536	19	1	301	1	TAS2R38	7	141672786	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	118163105	141672786	17465877	31	7145											
EEF1D	1936	genome.wustl.edu	37	chr8	144671766	144671766	+	Intron	DEL	C	C	-													gaggacttgttgacccagatCccccaggtcacgtggtggca							TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr8:144671766delC	ENST00000529272.1	-	2	397				EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Frame_Shift_Del_p.G212fs|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000423316.2_Frame_Shift_Del_p.G162fs|EEF1D_ENST00000442189.2_Frame_Shift_Del_p.G162fs|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000395119.3_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGACCCAGATCCCCCAGGTCA	0.677																																																	0								ENSG00000104529						35	31	32					8																	144671766		2201	4298	6499	EEF1D	SO:0001627	intron_variant	0				HGNC	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2747G>-	8.37:g.144671766delC		Somatic	0	28	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Frame_Shift_Del	DEL							pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu	p.I163fs	ENST00000529272.1	37	c.486	CCDS6405.1	8																																																																																			-	NULL		0.677	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	protein_coding	OTTHUMT00000382592.2	C	NM_032378			144671766	-1	no_errors	ENST00000423316	ensembl	human	known	74_37	frame_shift_del	DEL	0.017	-	-	144671766	C	-	144671766	6	5	108	0	1	1	0	1	0	0	0	0	4928	842	30	0		0	EEF1D	8	144671766	Intron	DEL	C	TCGA-DX-A8BV-01A-11D-A37C-09		144671766	1692256	32	7146											
C9orf79	286234	genome.wustl.edu	37	chr9	90500141	90500141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtttttcctccttcaccaCagccgcatggtcccctggcc	8	17	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr9:90500141C>A	ENST00000325643.5	+	4	805	c.739C>A	c.(739-741)Cag>Aag	p.Q247K		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	247	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTTCACCACAGCCGCATGG	0.632																																																	0								ENSG00000177992						87	94	92					9																	90500141		2203	4300	6503	SPATA31E1	SO:0001583	missense	0			-	HGNC	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.739C>A	9.37:g.90500141C>A	ENSP00000322640:p.Gln247Lys	Somatic	0	49	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP							NULL	p.Q247K	ENST00000325643.5	37	c.739	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.189199	0.00302	.	.	ENSG00000177992	ENST00000325643	T	0.03242	4.0	0.781	-0.641	0.11490	.	.	.	.	.	T	0.02455	0.0075	L	0.36672	1.1	0.09310	N	1	B	0.26975	0.165	B	0.26969	0.075	T	0.46925	-0.9156	9	0.05833	T	0.94	.	4.5156	0.11934	0.0:0.5858:0.4142:0.0	.	247	Q6ZUB1	CI079_HUMAN	K	247	ENSP00000322640:Q247K	ENSP00000322640:Q247K	Q	+	1	0	C9orf79	89689961	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.907000	0.28531	-0.217000	0.10033	-0.519000	0.04390	CAG	-	NULL		0.632	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	protein_coding	OTTHUMT00000052954.2	C	NM_178828	-		90500141	1	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	SNP	0.001	A	A	90500141	C	A	90500141	3	1	108	1	0	0	0	0	1	0	0	0	2499	479	17	3	753	3	C9orf79	9	90500141	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09		90500141	50713290	33	7147											
HEMGN	55363	genome.wustl.edu	37	chr9	100693452	100693452	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttttgttgtctctttctGcctcttcgatttccttttcc	6	11	3	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr9:100693452G>T	ENST00000259456.3	-	4	368	c.225C>A	c.(223-225)ggC>ggA	p.G75G		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	75	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTCTCTTTCTGCCTCTTCGAT	0.413																																																	0								ENSG00000136929						157	155	155					9																	100693452		2203	4300	6503	HEMGN	SO:0001819	synonymous_variant	0			-	HGNC	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.225C>A	9.37:g.100693452G>T		Somatic	0	53	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q6XAR3|Q86XY5|Q9NPC0	Silent	SNP							NULL	p.G75	ENST00000259456.3	37	c.225	CCDS6731.1	9																																																																																			-	NULL		0.413	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEMGN	protein_coding	OTTHUMT00000053344.2	G	NM_197978	-		100693452	-1	no_errors	ENST00000259456	ensembl	human	known	74_37	silent	SNP	0.984	T	T	100693452	G	T	100693452	2	4	108	1	0	0	0	0	0	0	0	1	7052	1306	46	3		3	HEMGN	9	100693452	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	10193311	100693452	40519979	34	7148											
SARDH	1757	genome.wustl.edu	37	chr9	136573521	136573521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcgctctcggatccagcggGggtggtccgtgagcgagtga	17	10	1	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr9:136573521G>C	ENST00000371872.4	-	11	1615	c.1358C>G	c.(1357-1359)cCc>cGc	p.P453R	SARDH_ENST00000439388.1_Missense_Mutation_p.P453R|SARDH_ENST00000422262.2_Missense_Mutation_p.P285R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	453					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GATCCAGCGGGGGTGGTCCGT	0.652																																																	0								ENSG00000123453						68	75	73					9																	136573521		2203	4300	6503	SARDH	SO:0001583	missense	0			-	HGNC		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1358C>G	9.37:g.136573521G>C	ENSP00000360938:p.Pro453Arg	Somatic	0	73	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.P453R	ENST00000371872.4	37	c.1358	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	G	0.166	-1.075873	0.01903	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.84146	-1.81;-1.81;-1.81	5.16	-1.43	0.08884	.	1.820710	0.02193	N	0.061576	T	0.69797	0.3151	N	0.17312	0.475	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.54622	-0.8266	10	0.14656	T	0.56	-0.0244	1.8921	0.03250	0.1119:0.2797:0.3205:0.2879	.	453	Q9UL12	SARDH_HUMAN	R	453;453;285;453;453	ENSP00000360938:P453R;ENSP00000403084:P453R;ENSP00000415537:P285R	ENSP00000360938:P453R	P	-	2	0	SARDH	135563342	0.005000	0.15991	0.025000	0.17156	0.060000	0.15804	0.025000	0.13577	-0.149000	0.11215	-1.097000	0.02148	CCC	-	NULL		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	protein_coding	OTTHUMT00000054931.1	G		-		136573521	-1	no_errors	ENST00000371872	ensembl	human	known	74_37	missense	SNP	0.040	C	C	136573521	G	C	136573521	3	2	108	1	0	0	0	0	1	0	0	0	13849	1232	43	4	1442	4	SARDH	9	136573521	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	35880069	136573521	4639910	35	7149											
FAM171A1	221061	genome.wustl.edu	37	chr10	15263009	15263009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgtatgtccacgtcaGctggctgccttcctggtgca	12	12	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr10:15263009G>A	ENST00000378116.4	-	6	811	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	269						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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						GTCCACGTCAGCTGGCTGCCT	0.572																																																	0								ENSG00000148468						103	90	95					10																	15263009		2203	4300	6503	FAM171A1	SO:0001819	synonymous_variant	0			-	HGNC	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.805C>T	10.37:g.15263009G>A		Somatic	0	38	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	D3DRT9|Q32M49|Q8N4I0	Silent	SNP							pfam_Uncharacterised_FAM171	p.L269	ENST00000378116.4	37	c.805	CCDS31154.1	10																																																																																			-	pfam_Uncharacterised_FAM171		0.572	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	protein_coding	OTTHUMT00000046984.1	G	XM_167709	-		15263009	-1	no_errors	ENST00000378116	ensembl	human	known	74_37	silent	SNP	1.000	A	A	15263009	G	A	15263009	2	1	108	1	0	0	0	0	0	0	0	1	5492	962	34	2		2	FAM171A1	10	15263009	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		15263009	120271738	36	7150											
CHAT	1103	genome.wustl.edu	37	chr10	50830148	50830148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctccctgcaggtttgCagccagcctcatctctggtg	9	16	3	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr10:50830148C>T	ENST00000337653.2	+	5	857	c.704C>T	c.(703-705)gCa>gTa	p.A235V	CHAT_ENST00000395562.2_Missense_Mutation_p.A153V|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.A117V|CHAT_ENST00000351556.3_Missense_Mutation_p.A117V|CHAT_ENST00000339797.1_Missense_Mutation_p.A117V|CHAT_ENST00000455728.2_Missense_Mutation_p.A117V	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	235					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGCAGGTTTGCAGCCAGCCTC	0.632																																																	0								ENSG00000070748						193	145	161					10																	50830148		2203	4300	6503	CHAT	SO:0001583	missense	0			-	HGNC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.704C>T	10.37:g.50830148C>T	ENSP00000337103:p.Ala235Val	Somatic	0	49	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP							pfam_Carn_acyl_trans	p.A235V	ENST00000337653.2	37	c.704	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138476	0.77775	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	4.74	4.74	0.60224	.	0.306413	0.34725	N	0.003733	D	0.94437	0.8210	M	0.82433	2.59	0.58432	D	0.999998	P;D	0.76494	0.905;0.999	B;D	0.66602	0.284;0.945	D	0.95316	0.8416	10	0.72032	D	0.01	-12.3744	17.7116	0.88323	0.0:1.0:0.0:0.0	.	117;235	F8W8I2;P28329	.;CLAT_HUMAN	V	117;117;117;235;153;117	ENSP00000343486:A117V;ENSP00000345878:A117V;ENSP00000378926:A117V;ENSP00000337103:A235V;ENSP00000378929:A153V;ENSP00000390521:A117V	ENSP00000337103:A235V	A	+	2	0	CHAT	50500154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.712000	0.74681	2.161000	0.67846	0.561000	0.74099	GCA	-	pfam_Carn_acyl_trans		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	protein_coding	OTTHUMT00000047997.1	C	NM_020549	-		50830148	1	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50830148	C	T	50830148	3	4	108	1	0	0	0	0	1	0	0	0	3315	710	25	2	766	2	CHAT	10	50830148	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	35567139	50830148	84704599	37	7151											
MOB2	81532	genome.wustl.edu	37	chr11	1502032	1502032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaactggaagtcggtgatcCtggccttggtgtgctcaggc	15	9	1	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:1502032C>A	ENST00000329957.6	-	2	383	c.194G>T	c.(193-195)aGg>aTg	p.R65M	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	34					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						GTCGGTGATCCTGGCCTTGGT	0.632																																																	0								ENSG00000182208						41	46	44					11																	1502032		2077	4202	6279	MOB2	SO:0001583	missense	0			-	HGNC		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"MOB kinase activators"	24904	protein-coding gene	gene with protein product	"MOB2 Mps One Binder homolog (yeast)"	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.194G>T	11.37:g.1502032C>A	ENSP00000328694:p.Arg65Met	Somatic	0	50	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B4DKP3|Q96M67	Missense_Mutation	SNP							pfam_Mob1_phocein,superfamily_Mob1_phocein	p.R65M	ENST00000329957.6	37	c.194	CCDS53591.1	11	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962466	0.92791	.	.	ENSG00000182208	ENST00000329957	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.74321	0.3701	L	0.48877	1.53	0.80722	D	1	D;D	0.65815	0.984;0.995	D;D	0.67900	0.954;0.938	T	0.75508	-0.3293	9	0.59425	D	0.04	-43.6118	19.0961	0.93251	0.0:1.0:0.0:0.0	.	65;34	E9PDA5;Q70IA6	.;MOB2_HUMAN	M	65	.	ENSP00000328694:R65M	R	-	2	0	AC091196.1	1458608	1.000000	0.71417	0.948000	0.38648	0.948000	0.59901	5.797000	0.69087	2.506000	0.84524	0.462000	0.41574	AGG	-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.632	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MOB2	protein_coding	OTTHUMT00000384770.1	C	NM_053005	-		1502032	-1	no_errors	ENST00000329957	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	1502032	C	A	1502032	3	1	108	1	0	0	0	0	1	0	0	0	9683	681	24	3	628	3	MOB2	11	1502032	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09		1502032	133504484	38	7152											
OR56A3	390083	genome.wustl.edu	37	chr11	5969152	5969152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctgtttccagactctcCtgcgatgatgtcaccatcaa	7	12	4	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:5969152C>T	ENST00000329564.6	+	1	583	c.576C>T	c.(574-576)tcC>tcT	p.S192S	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGACTCTCCTGCGATGATG	0.468																																																	0								ENSG00000184478						116	116	116					11																	5969152		2159	4286	6445	OR56A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.576C>T	11.37:g.5969152C>T		Somatic	0	53	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A6NN77|Q6IFF7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S192	ENST00000329564.6	37	c.576	CCDS41614.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	protein_coding	OTTHUMT00000383753.1	C	NM_001003443	-		5969152	1	no_errors	ENST00000329564	ensembl	human	known	74_37	silent	SNP	0.998	T	T	5969152	C	T	5969152	2	4	108	1	0	0	0	0	0	0	0	1	11136	668	24	2		2	OR56A3	11	5969152	Silent	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	4467120	5969152	129037364	39	7153											
TM7SF2	7108	genome.wustl.edu	37	chr11	64880999	64880999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttttctgggacgagagcTcaaccctcgtatctgtttct	8	11	4	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:64880999T>A	ENST00000279263.7	+	5	698	c.536T>A	c.(535-537)cTc>cAc	p.L179H	TM7SF2_ENST00000531029.1_Intron|TM7SF2_ENST00000540748.1_Missense_Mutation_p.L63H|TM7SF2_ENST00000345348.5_Missense_Mutation_p.L179H|AP003068.9_ENST00000528887.1_RNA	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	179				L -> V (in Ref. 4; AAH12857). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGACGAGAGCTCAACCCTCGT	0.532											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000149809						231	236	234					11																	64880999		1931	4115	6046	TM7SF2	SO:0001583	missense	0			-	HGNC	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.536T>A	11.37:g.64880999T>A	ENSP00000279263:p.Leu179His	Somatic	0	59	0	134	0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.22	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP							pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	p.L179H	ENST00000279263.7	37	c.536	CCDS41669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.608965|4.608965	0.87258|0.87258	.|.	.|.	ENSG00000149809|ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000526085;ENST00000530750;ENST00000527968|ENST00000528802	D;D;D;D;D;D;D;D;D;D;D|.	0.99292|.	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-2.29;-5.7|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Sterol reductase, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85084|0.85084	0.5616|0.5616	H|H	0.94698|0.94698	3.57|3.57	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	D|D	0.88864|0.88864	0.3328|0.3328	10|5	0.87932|.	D|.	0|.	-0.757|-0.757	12.3862|12.3862	0.55333|0.55333	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	63;179;179|.	F5GYV3;O76062-2;O76062|.	.;.;ERG24_HUMAN|.	H|T	179;150;111;63;150;179;85;168;30;114;11|7	ENSP00000279263:L179H;ENSP00000435972:L150H;ENSP00000432187:L111H;ENSP00000441215:L63H;ENSP00000433325:L150H;ENSP00000329520:L179H;ENSP00000431300:L85H;ENSP00000433275:L168H;ENSP00000434447:L30H;ENSP00000432413:L114H;ENSP00000431685:L11H|.	ENSP00000279263:L179H|.	L|S	+|+	2|1	0|0	TM7SF2|TM7SF2	64637575|64637575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.441000|7.441000	0.80485|0.80485	2.039000|2.039000	0.60335|0.60335	0.402000|0.402000	0.26972|0.26972	CTC|TCA	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.532	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF2	protein_coding	OTTHUMT00000385234.1	T	NM_003273	-		64880999	1	no_errors	ENST00000279263	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64880999	T	A	64880999	3	1	108	1	0	0	0	0	1	0	0	0	15981	1551	54	5	554	5	TM7SF2	11	64880999	Missense_Mutation	SNP	T	TCGA-DX-A8BV-01A-11D-A37C-09	58911847	64880999	70125517	40	7154											
RCE1	9986	genome.wustl.edu	37	chr11	66612684	66612684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtttccgccagagcagcGtggggaacatcttcttgtct	12	11	3	1	rs371258472		TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:66612684G>A	ENST00000309657.3	+	6	711	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	RCE1_ENST00000524506.1_Missense_Mutation_p.V223M|RCE1_ENST00000525356.1_Missense_Mutation_p.V100M	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	223					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCAGAGCAGCGTGGGGAACAT	0.517													G|||	1	0.000199681	0	0	5008	,	,		22525	0		0	False		,,,				2504	0.001																0								ENSG00000173653						152	123	133					11																	66612684		2200	4295	6495	RCE1	SO:0001583	missense	0			-	HGNC	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.667G>A	11.37:g.66612684G>A	ENSP00000309163:p.Val223Met	Somatic	0	58	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q52LZ9	Missense_Mutation	SNP							pfam_CAAX_protease	p.V223M	ENST00000309657.3	37	c.667	CCDS8151.1	11	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793793	0.31777	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.43	3.35	0.38373	.	0.156942	0.40640	N	0.001052	T	0.44746	0.1308	L	0.39514	1.22	0.46823	D	0.999219	B	0.28584	0.216	B	0.25405	0.06	T	0.41484	-0.9506	9	0.54805	T	0.06	-11.5375	8.4126	0.32653	0.1488:0.0:0.8512:0.0	.	223	Q9Y256	FACE2_HUMAN	M	223;223;100	.	ENSP00000309163:V223M	V	+	1	0	RCE1	66369260	0.119000	0.22226	0.999000	0.59377	0.992000	0.81027	0.359000	0.20233	0.961000	0.38030	0.655000	0.94253	GTG	-	pfam_CAAX_protease		0.517	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	protein_coding	OTTHUMT00000393105.1	G	NM_005133	-		66612684	1	no_errors	ENST00000309657	ensembl	human	known	74_37	missense	SNP	0.996	A	A	66612684	G	A	66612684	3	1	108	1	0	0	0	0	1	0	0	0	13184	1145	40	1	689	1	RCE1	11	66612684	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	1731685	66612684	68393832	41	7155											
LRP5	4041	genome.wustl.edu	37	chr11	68115452	68115452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagttttccaagggagccGtgtactggacagacgtgagc	13	10	0	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:68115452G>T	ENST00000294304.7	+	2	335	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	77	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)			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						CAAGGGAGCCGTGTACTGGAC	0.647																																																	0								ENSG00000162337						83	77	79					11																	68115452		2200	4294	6494	LRP5	SO:0001583	missense	0			-	HGNC	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.229G>T	11.37:g.68115452G>T	ENSP00000294304:p.Val77Leu	Somatic	0	56	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	19.15	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP							pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V77L	ENST00000294304.7	37	c.229	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738118	0.49045	.	.	ENSG00000162337	ENST00000294304	D	0.88586	-2.4	4.58	3.65	0.41850	Six-bladed beta-propeller, TolB-like (1);	0.193343	0.24345	U	0.039323	T	0.79639	0.4480	N	0.22421	0.69	0.34616	D	0.7181	B	0.19200	0.034	B	0.22152	0.038	T	0.78188	-0.2301	10	0.31617	T	0.26	.	8.5473	0.33429	0.2388:0.0:0.7612:0.0	.	77	O75197	LRP5_HUMAN	L	77	ENSP00000294304:V77L	ENSP00000294304:V77L	V	+	1	0	LRP5	67872028	0.997000	0.39634	1.000000	0.80357	0.952000	0.60782	2.955000	0.49121	2.245000	0.73994	0.561000	0.74099	GTG	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt		0.647	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	protein_coding	OTTHUMT00000395088.1	G	NM_002335	-		68115452	1	no_errors	ENST00000294304	ensembl	human	known	74_37	missense	SNP	0.989	T	T	68115452	G	T	68115452	3	4	108	1	0	0	0	0	1	0	0	0	8962	1145	40	3	235	3	LRP5	11	68115452	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	1502768	68115452	66891064	42	7156											
ARAP1	116985	genome.wustl.edu	37	chr11	72404505	72404505	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgccatgcttggtgtcaccGacacggctggctggggggtg	17	10	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:72404505G>A	ENST00000393609.3	-	29	4021	c.3819C>T	c.(3817-3819)gtC>gtT	p.V1273V	ARAP1_ENST00000429686.1_Silent_p.V967V|ARAP1_ENST00000426523.1_Silent_p.V1028V|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.V1028V|ARAP1_ENST00000393605.3_Silent_p.V1033V|ARAP1_ENST00000359373.5_Silent_p.V1273V|ARAP1_ENST00000455638.2_Silent_p.V1273V	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1273					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGTGTCACCGACACGGCTGG	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)												0								ENSG00000186635						80	75	77					11																	72404505		2200	4293	6493	ARAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3819C>T	11.37:g.72404505G>A		Somatic	0	72	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.V1273	ENST00000393609.3	37	c.3819	CCDS41687.1	11																																																																																			-	NULL		0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	protein_coding	OTTHUMT00000347428.1	G	NM_001040118	-		72404505	-1	no_errors	ENST00000393609	ensembl	human	known	74_37	silent	SNP	0.993	A	A	72404505	G	A	72404505	2	1	108	1	0	0	0	0	0	0	0	1	838	1045	37	1		1	ARAP1	11	72404505	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	4289053	72404505	62602011	43	7157											
APLP2	334	genome.wustl.edu	37	chr11	130003584	130003584	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctctctctgctctacAaagtaccttatgtagcccaa	5	13	3	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr11:130003584A>C	ENST00000263574.5	+	12	1717	c.1645A>C	c.(1645-1647)Aaa>Caa	p.K549Q	APLP2_ENST00000278756.7_Missense_Mutation_p.K559Q|APLP2_ENST00000345598.5_Missense_Mutation_p.K320Q|APLP2_ENST00000528499.1_Missense_Mutation_p.K493Q|APLP2_ENST00000543137.1_Missense_Mutation_p.K456Q|APLP2_ENST00000338167.5_Missense_Mutation_p.K549Q|APLP2_ENST00000539648.1_Missense_Mutation_p.K337Q	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	549					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCTGCTCTACAAAGTACCTTA	0.468																																																	0								ENSG00000084234						117	107	111					11																	130003584		2201	4297	6498	APLP2	SO:0001583	missense	0			-	HGNC	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1645A>C	11.37:g.130003584A>C	ENSP00000263574:p.Lys549Gln	Somatic	0	43	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP							pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.K549Q	ENST00000263574.5	37	c.1645	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773555	0.69992	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.07	5.07	0.68467	Amyloidogenic glycoprotein, E2 domain (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.71581	2.175	0.80722	D	1	D;D;D;P;D;D;D	0.89917	0.999;1.0;1.0;0.839;1.0;1.0;0.999	D;D;D;P;D;D;D	0.85130	0.976;0.997;0.997;0.607;0.997;0.995;0.918	T	0.66524	-0.5902	10	0.38643	T	0.18	-15.0798	14.0522	0.64745	1.0:0.0:0.0:0.0	.	337;549;493;320;487;493;549	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	Q	493;337;549;320;549;559;456	ENSP00000435914:K493Q;ENSP00000443728:K337Q;ENSP00000263574:K549Q;ENSP00000263575:K320Q;ENSP00000345444:K549Q;ENSP00000278756:K559Q;ENSP00000444122:K456Q	ENSP00000263574:K549Q	K	+	1	0	APLP2	129508794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.906000	0.92626	1.917000	0.55516	0.460000	0.39030	AAA	-	superfamily_Amyloid_glyco_E2_domain		0.468	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	protein_coding	OTTHUMT00000386109.1	A	NM_001642	-		130003584	1	no_errors	ENST00000263574	ensembl	human	known	74_37	missense	SNP	1.000	C	C	130003584	A	C	130003584	3	2	108	1	0	0	0	0	1	0	0	0	779	131	5	5	1691	5	APLP2	11	130003584	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	57599079	130003584	5002932	44	7158											
KCNA5	3741	genome.wustl.edu	37	chr12	5153524	5153524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcccttgcctccgctgCcggacccgggagtgcggccc	15	18	0	0	rs144879674|rs71581015	byFrequency	TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr12:5153524C>A	ENST00000252321.3	+	1	440	c.211C>A	c.(211-213)Ccg>Acg	p.P71T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	71	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.				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)	GCCTCCGCTGCCGGACCCGGG	0.751																																																	0								ENSG00000130037						4	6	5					12																	5153524		1958	3858	5816	KCNA5	SO:0001583	missense	0			-	HGNC	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.211C>A	12.37:g.5153524C>A	ENSP00000252321:p.Pro71Thr	Somatic	0	29	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.P71T	ENST00000252321.3	37	c.211	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	-	16.92	3.255131	0.59321	.	.	ENSG00000130037	ENST00000252321	D	0.97455	-4.39	3.13	1.07	0.20283	.	2.810250	0.02044	N	0.049486	D	0.92763	0.7699	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	D	0.86007	0.1498	8	0.14656	T	0.56	.	6.5869	0.22626	0.2037:0.5984:0.1979:0.0	.	71	P22460	KCNA5_HUMAN	T	71	ENSP00000252321:P71T	ENSP00000252321:P71T	P	+	1	0	KCNA5	5023785	0.037000	0.19845	0.438000	0.26821	0.832000	0.47134	0.116000	0.15561	0.123000	0.18342	0.511000	0.50034	CCG	-	NULL		0.751	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	protein_coding	OTTHUMT00000398925.2	C	NM_002234	-		5153524	1	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	SNP	0.043	A	A	5153524	C	A	5153524	3	1	108	1	0	0	0	0	1	0	0	0	8008	739	26	3	213	3	KCNA5	12	5153524	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09		5153524	128698371	45	7159											
KCNA5	3741	genome.wustl.edu	37	chr12	5153679	5153679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctgcaccaccagcgcgtCcacatcaacatctccgggct	7	19	2	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr12:5153679C>T	ENST00000252321.3	+	1	595	c.366C>T	c.(364-366)gtC>gtT	p.V122V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	122					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)	ACCAGCGCGTCCACATCAACA	0.697																																																	0								ENSG00000130037						29	29	29					12																	5153679		2200	4299	6499	KCNA5	SO:0001819	synonymous_variant	0			-	HGNC	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.366C>T	12.37:g.5153679C>T		Somatic	0	86	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.V122	ENST00000252321.3	37	c.366	CCDS8536.1	12																																																																																			-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.697	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	protein_coding	OTTHUMT00000398925.2	C	NM_002234	-		5153679	1	no_errors	ENST00000252321	ensembl	human	known	74_37	silent	SNP	0.966	T	T	5153679	C	T	5153679	2	4	108	1	0	0	0	0	0	0	0	1	8008	842	30	2		2	KCNA5	12	5153679	Silent	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	155	5153679	128698216	46	7160											
KLRC2	3823	genome.wustl.edu	37	chr12	10588425	10588425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatatattttatcaatcCcttgatgattcagggaagga	8	6	3	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr12:10588425C>T	ENST00000539033.1	-	1	175	c.161G>A	c.(160-162)gGg>gAg	p.G54E	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.G54E|KLRC2_ENST00000381901.1_Missense_Mutation_p.G54E																							TTTATCAATCCCTTGATGATT	0.338																																																	0								ENSG00000255641						110	120	116					12																	10588425		2124	4212	6336	NKG2-E	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000539033.1:c.161G>A	12.37:g.10588425C>T	ENSP00000437563:p.Gly54Glu	Somatic	0	109	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81		Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G54E	ENST00000539033.1	37	c.161		12	.	.	.	.	.	.	.	.	.	.	C	5.455	0.268987	0.10349	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05717	3.4;3.4;3.4	1.91	0.998	0.19857	.	1.377710	0.04503	N	0.381643	T	0.16685	0.0401	M	0.82630	2.6	0.09310	N	1	B;B;B	0.30511	0.109;0.098;0.282	B;B;B	0.42798	0.163;0.144;0.398	T	0.40459	-0.9562	10	0.42905	T	0.14	.	4.344	0.11124	0.0:0.7932:0.0:0.2068	.	40;54;54	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	E	54	ENSP00000437563:G54E;ENSP00000371327:G54E;ENSP00000371326:G54E	ENSP00000371326:G54E	G	-	2	0	KLRC2;RP11-277P12.6	10479692	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-1.324000	0.02690	0.388000	0.25054	0.184000	0.17185	GGG	-	NULL		0.338	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000255641	protein_coding	OTTHUMT00000400274.1	C		-		10588425	-1	no_errors	ENST00000539033	ensembl	human	known	74_37	missense	SNP	0.001	T	T	10588425	C	T	10588425	3	4	108	1	0	0	0	0	1	0	0	0	8418	623	22	2	558	2	KLRC2	12	10588425	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	5434746	10588425	123263470	47	7161											
RPH3A	22895	genome.wustl.edu	37	chr12	113316949	113316949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgccctggaattcagCcttctctacgaccaggacaa	10	13	2	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr12:113316949C>T	ENST00000389385.4	+	14	1694	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	RPH3A_ENST00000420983.2_Silent_p.S399S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.S399S|RPH3A_ENST00000548866.1_Silent_p.S350S|RPH3A_ENST00000551052.1_Silent_p.S395S|RPH3A_ENST00000447659.2_Silent_p.S350S|RPH3A_ENST00000543106.2_Silent_p.S399S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	399	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGAATTCAGCCTTCTCTACG	0.527																																																	0								ENSG00000089169						174	157	163					12																	113316949		2203	4300	6503	RPH3A	SO:0001819	synonymous_variant	0			-	HGNC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1197C>T	12.37:g.113316949C>T		Somatic	0	51	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B7Z3C3|Q96AE0	Silent	SNP							pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.S399	ENST00000389385.4	37	c.1197	CCDS44979.1	12																																																																																			-	superfamily_C2_dom		0.527	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	protein_coding	OTTHUMT00000405561.1	C	NM_014954	-		113316949	1	no_errors	ENST00000389385	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113316949	C	T	113316949	2	4	108	1	0	0	0	0	0	0	0	1	13559	738	26	2		2	RPH3A	12	113316949	Silent	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	102728524	113316949	20534946	48	7162											
P2RX7	5027	genome.wustl.edu	37	chr12	121605337	121605337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggactgcaacctagaccGttggttccatcactgccgtc	10	14	1	1	rs149639375	byFrequency	TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr12:121605337G>A	ENST00000546057.1	+	8	934	c.791G>A	c.(790-792)cGt>cAt	p.R264H	P2RX7_ENST00000535250.1_Missense_Mutation_p.R174H|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Missense_Mutation_p.R94H|P2RX7_ENST00000377162.2_Intron	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	264					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACCTAGACCGTTGGTTCCAT	0.517																																																	0								ENSG00000089041	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	226	168	188		791	-2.3	0	12	dbSNP_134	188	4,8596	3.7+/-12.6	0,4,4296	yes	missense	P2RX7	NM_002562.5	29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	possibly-damaging	264/596	121605337	5,13001	2203	4300	6503	P2RX7	SO:0001583	missense	0			-	HGNC	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.791G>A	12.37:g.121605337G>A	ENSP00000442349:p.Arg264His	Somatic	0	62	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP							pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R264H	ENST00000546057.1	37	c.791	CCDS9213.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086178	0.36855	2.27E-4	4.65E-4	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250	T;T;T	0.04454	3.62;3.62;3.62	6.04	-2.31	0.06765	.	1.250830	0.05304	N	0.523450	T	0.09202	0.0227	L	0.50333	1.59	0.09310	N	1	P;D;P	0.54397	0.928;0.966;0.952	B;P;P	0.51833	0.347;0.553;0.681	T	0.41822	-0.9487	10	0.30078	T	0.28	.	8.67	0.34145	0.2517:0.3609:0.3874:0.0	.	94;174;264	F8W951;F5H7E8;Q99572	.;.;P2RX7_HUMAN	H	264;94;174	ENSP00000442349:R264H;ENSP00000330696:R94H;ENSP00000442572:R174H	ENSP00000330696:R94H	R	+	2	0	P2RX7	120089720	0.000000	0.05858	0.002000	0.10522	0.720000	0.41350	0.138000	0.16016	-0.291000	0.09012	0.563000	0.77884	CGT	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.517	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	protein_coding	OTTHUMT00000402532.1	G	NM_002562	rs149639375		121605337	1	no_errors	ENST00000546057	ensembl	human	known	74_37	missense	SNP	0.000	A	A	121605337	G	A	121605337	3	1	108	1	0	0	0	0	1	0	0	0	11347	1145	40	1	821	1	P2RX7	12	121605337	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	8288388	121605337	12246558	49	7163											
DHX37	57647	genome.wustl.edu	37	chr12	125436983	125436983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctccagcatctcctcGctctggaccctgcgggccaa	9	17	2	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr12:125436983G>A	ENST00000308736.2	-	21	2927	c.2829C>T	c.(2827-2829)agC>agT	p.S943S	DHX37_ENST00000544745.1_Silent_p.S730S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	943							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCATCTCCTCGCTCTGGACCC	0.687																																																	0								ENSG00000150990						48	39	42					12																	125436983		2203	4300	6503	DHX37	SO:0001819	synonymous_variant	0			-	HGNC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2829C>T	12.37:g.125436983G>A		Somatic	0	35	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	Q9BUI7|Q9P211	Silent	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S943	ENST00000308736.2	37	c.2829	CCDS9261.1	12																																																																																			-	pfam_DUF1605,superfamily_P-loop_NTPase		0.687	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	protein_coding		G	NM_032656	-		125436983	-1	no_errors	ENST00000308736	ensembl	human	known	74_37	silent	SNP	0.290	A	A	125436983	G	A	125436983	2	1	108	1	0	0	0	0	0	0	0	1	4512	1078	38	1		1	DHX37	12	125436983	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	3831646	125436983	8414912	50	7164											
CDK8	1024	genome.wustl.edu	37	chr13	26975611	26975611	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taaccaattgagaagaaccaGcagcagcagcagggcaataa	10	9	0	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr13:26975611G>C	ENST00000381527.3	+	12	1622	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	373	Poly-Gln.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGAAGAACCAGCAGCAGCAGC	0.458																																																	0								ENSG00000132964						51	51	51					13																	26975611		2203	4300	6503	CDK8	SO:0001583	missense	0			-	HGNC	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1119G>C	13.37:g.26975611G>C	ENSP00000370938:p.Gln373His	Somatic	0	74	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5VUF3|Q6ISB5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q373H	ENST00000381527.3	37	c.1119	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235234	0.58886	.	.	ENSG00000132964	ENST00000381527	T	0.70045	-0.45	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.63843	1.955	0.80722	D	1	P;P	0.41848	0.763;0.65	B;B	0.41202	0.35;0.19	T	0.66822	-0.5826	10	0.44086	T	0.13	-8.6083	13.3154	0.60405	0.0722:0.0:0.9278:0.0	.	372;373	P49336-2;P49336	.;CDK8_HUMAN	H	373	ENSP00000370938:Q373H	ENSP00000370938:Q373H	Q	+	3	2	CDK8	25873611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.185000	0.72013	2.757000	0.94681	0.655000	0.94253	CAG	-	NULL		0.458	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	protein_coding	OTTHUMT00000044250.1	G		-		26975611	1	no_errors	ENST00000381527	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26975611	G	C	26975611	3	2	108	1	0	0	0	0	1	0	0	0	3152	962	34	4	1165	4	CDK8	13	26975611	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		26975611	88194267	51	7165											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890932	23890932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacggctttttgggagggcGgggctccctgaaagggctgc	18	10	0	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr15:23890932G>C	ENST00000532292.1	-	1	243	c.149C>G	c.(148-150)cCg>cGg	p.P50R		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					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)		TTGGGAGGGCGGGGCTCCCTG	0.692																																																	0								ENSG00000254585						5	6	6					15																	23890932		1773	3915	5688	MAGEL2	SO:0001583	missense	0			-	HGNC	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.149C>G	15.37:g.23890932G>C	ENSP00000433433:p.Pro50Arg	Somatic	0	46	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00		Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.P50R	ENST00000532292.1	37	c.149		15	.	.	.	.	.	.	.	.	.	.	G	3.706	-0.060633	0.07317	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.43	0.294	0.15747	.	.	.	.	.	T	0.32971	0.0847	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.27020	-1.0086	5	.	.	.	.	5.5434	0.17051	0.1042:0.0:0.5683:0.3276	.	.	.	.	G	82	.	.	R	-	1	0	MAGEL2	21442025	0.000000	0.05858	0.003000	0.11579	0.218000	0.24690	-0.471000	0.06631	0.063000	0.16370	0.197000	0.17608	CGC	-	NULL		0.692	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	protein_coding	OTTHUMT00000395182.2	G	NM_019066	-		23890932	-1	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	SNP	0.068	C	C	23890932	G	C	23890932	3	2	108	1	0	0	0	0	1	0	0	0	9191	1116	39	4	1795	4	MAGEL2	15	23890932	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		23890932	78640460	52	7166											
TYRO3	7301	genome.wustl.edu	37	chr15	41859567	41859567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttctgtaggtgacacagGccccaggaggctgggaagtc	14	10	1	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr15:41859567G>T	ENST00000263798.3	+	7	1017	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	TYRO3_ENST00000559066.1_Missense_Mutation_p.A220S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	265	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GGTGACACAGGCCCCAGGAGG	0.557																																																	0								ENSG00000092445						66	71	69					15																	41859567		2203	4300	6503	TYRO3	SO:0001583	missense	0			-	HGNC	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.793G>T	15.37:g.41859567G>T	ENSP00000263798:p.Ala265Ser	Somatic	0	58	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O14953|Q86VR3	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A265S	ENST00000263798.3	37	c.793	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	9.229	1.035347	0.19590	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.56941	0.43	4.64	3.72	0.42706	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000740	T	0.24890	0.0604	N	0.05534	-0.03	0.32565	N	0.530637	B	0.17038	0.02	B	0.18263	0.021	T	0.23013	-1.0200	10	0.08599	T	0.76	-9.6909	5.5949	0.17321	0.1:0.0:0.7052:0.1948	.	265	Q06418	TYRO3_HUMAN	S	197;265	ENSP00000263798:A265S	ENSP00000263798:A265S	A	+	1	0	TYRO3	39646859	0.982000	0.34865	0.989000	0.46669	0.977000	0.68977	1.148000	0.31614	1.185000	0.42971	0.655000	0.94253	GCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	protein_coding	OTTHUMT00000252693.2	G		-		41859567	1	no_errors	ENST00000263798	ensembl	human	known	74_37	missense	SNP	0.937	T	T	41859567	G	T	41859567	3	4	108	1	0	0	0	0	1	0	0	0	16821	1203	42	3	819	3	TYRO3	15	41859567	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	17968635	41859567	60671825	53	7167											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42106769	42106769	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctcttctctggagtggcGaatgccaggtatccagacac	11	13	2	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr15:42106769G>A	ENST00000456763.2	+	11	1216	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Silent_p.A222A|MAPKBP1_ENST00000514566.1_Silent_p.A334A|MAPKBP1_ENST00000457542.2_Silent_p.A334A	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	340										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)		CTGGAGTGGCGAATGCCAGGT	0.488																																																	0								ENSG00000137802						212	177	189					15																	42106769		2203	4300	6503	MAPKBP1	SO:0001819	synonymous_variant	0			-	HGNC	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.1020G>A	15.37:g.42106769G>A		Somatic	0	71	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A340	ENST00000456763.2	37	c.1020	CCDS45239.1	15																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.488	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	protein_coding	OTTHUMT00000359745.1	G	NM_014994	-		42106769	1	no_errors	ENST00000456763	ensembl	human	known	74_37	silent	SNP	0.547	A	A	42106769	G	A	42106769	2	1	108	1	0	0	0	0	0	0	0	1	9294	1045	37	1		1	MAPKBP1	15	42106769	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	247202	42106769	60424623	54	7168											
PIF1	80119	genome.wustl.edu	37	chr15	65108804	65108804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgccccgccgcagggtgGcatagaagtgcagcacacgg	14	14	0	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr15:65108804G>A	ENST00000268043.4	-	12	1929	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	PIF1_ENST00000333425.6_Missense_Mutation_p.A612V|PIF1_ENST00000559239.1_Missense_Mutation_p.A612V					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCGCAGGGTGGCATAGAAGTG	0.662																																																	0								ENSG00000140451						52	61	58					15																	65108804		2202	4299	6501	PIF1	SO:0001583	missense	0			-	HGNC	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1835C>T	15.37:g.65108804G>A	ENSP00000268043:p.Ala612Val	Somatic	0	41	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase	p.A612V	ENST00000268043.4	37	c.1835	CCDS10195.2	15	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839961	0.71488	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77877	-0.11;-1.13	5.88	5.88	0.94601	.	0.232564	0.44688	D	0.000425	T	0.61060	0.2317	N	0.08118	0	0.39015	D	0.95963	B	0.28258	0.205	B	0.15484	0.013	T	0.61451	-0.7060	10	0.40728	T	0.16	-14.7332	17.7361	0.88394	0.0:0.0:1.0:0.0	.	612	Q9H611	PIF1_HUMAN	V	612	ENSP00000268043:A612V;ENSP00000328174:A612V	ENSP00000268043:A612V	A	-	2	0	PIF1	62895857	0.919000	0.31177	0.998000	0.56505	0.997000	0.91878	0.826000	0.27407	2.782000	0.95742	0.655000	0.94253	GCC	-	superfamily_P-loop_NTPase		0.662	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIF1	protein_coding	OTTHUMT00000256533.1	G	NM_025049	-		65108804	-1	no_errors	ENST00000333425	ensembl	human	known	74_37	missense	SNP	0.996	A	A	65108804	G	A	65108804	3	1	108	1	0	0	0	0	1	0	0	0	11885	1203	42	2	98	2	PIF1	15	65108804	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	23002035	65108804	37422588	55	7169											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84506902	84506902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaactgtggagtctgtgCcggcgatggctccacctgca	14	12	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr15:84506902C>T	ENST00000286744.5	+	7	886	c.662C>T	c.(661-663)gCc>gTc	p.A221V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A221V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	221						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAGTCTGTGCCGGCGATGGC	0.522																																																	0								ENSG00000156218						82	76	78					15																	84506902		2203	4300	6503	ADAMTSL3	SO:0001583	missense	0			-	HGNC	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.662C>T	15.37:g.84506902C>T	ENSP00000286744:p.Ala221Val	Somatic	0	56	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.26	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.A221V	ENST00000286744.5	37	c.662	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897551	0.52121	.	.	ENSG00000156218	ENST00000286744	T	0.68331	-0.32	5.5	2.36	0.29203	.	1.444780	0.03742	N	0.255158	T	0.74489	0.3723	L	0.54323	1.7	0.37176	D	0.903251	P;P	0.50710	0.597;0.938	P;P	0.49853	0.624;0.601	T	0.64922	-0.6293	10	0.48119	T	0.1	.	16.3449	0.83120	0.0:0.6261:0.3739:0.0	.	221;221	P82987-2;P82987	.;ATL3_HUMAN	V	221	ENSP00000286744:A221V	ENSP00000286744:A221V	A	+	2	0	ADAMTSL3	82297906	0.905000	0.30787	0.010000	0.14722	0.540000	0.34992	1.707000	0.37888	0.283000	0.22279	0.650000	0.86243	GCC	-	prints_Peptidase_M12B_ADAM-TS		0.522	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	C	NM_207517	-		84506902	1	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	SNP	0.566	T	T	84506902	C	T	84506902	3	4	108	1	0	0	0	0	1	0	0	0	276	739	26	2	684	2	ADAMTSL3	15	84506902	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	19398098	84506902	18024490	56	7170											
SETD1A	9739	genome.wustl.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																																	0								ENSG00000099381																																			SETD1A	SO:0001651	inframe_deletion	0				HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del	Somatic	0	58	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL							pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S1046in_frame_del	ENST00000262519.8	37	c.3127_3129	CCDS32435.1	16																																																																																			-	NULL		0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	TCC	NM_014712			30982811	1	no_errors	ENST00000262519	ensembl	human	known	74_37	in_frame_del	DEL	0.734:0.781:0.676	-	-	30982811	TCC	-	30982809	7	5	108	1	0	1	0	1	0	0	0	0	14138	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-DX-A8BV-01A-11D-A37C-09		30982809	59371944	57	7171											
ANKRD11	29123	genome.wustl.edu	37	chr16	89348444	89348444	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccttgtccctggtggcGggcttctgctcgtccctgtg	13	14	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr16:89348444G>T	ENST00000301030.4	-	9	4966	c.4506C>A	c.(4504-4506)ccC>ccA	p.P1502P	ANKRD11_ENST00000378330.2_Silent_p.P1502P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1502	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCTGGTGGCGGGCTTCTGCT	0.647																																																	0								ENSG00000167522						57	48	51					16																	89348444		2198	4300	6498	ANKRD11	SO:0001819	synonymous_variant	0			-	HGNC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4506C>A	16.37:g.89348444G>T		Somatic	0	54	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q6NTG1|Q6QMF8	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P1502	ENST00000301030.4	37	c.4506	CCDS32513.1	16																																																																																			-	NULL		0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	protein_coding	OTTHUMT00000430462.3	G	NM_013275	-		89348444	-1	no_errors	ENST00000301030	ensembl	human	known	74_37	silent	SNP	0.008	T	T	89348444	G	T	89348444	2	4	108	1	0	0	0	0	0	0	0	1	639	1103	39	3		3	ANKRD11	16	89348444	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	58365635	89348444	1006309	58	7172											
TP53	7157	genome.wustl.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M		ENSG00000141510						132	118	123					17																	7578212		2203	4300	6503	TP53	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;	-	HGNC	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	Somatic	0	85	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	21	69.57	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7578212	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.893	A	A	7578212	G	A	7578212	4	1	108	1	0	0	0	0	0	1	0	0	16388	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		7578212	73616998	59	7173											
TMEM11	8834	genome.wustl.edu	37	chr17	21101707	21101707	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctatcgtgttgtgcAgtctctttctgtgcaggtcg	12	10	2	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr17:21101707A>T	ENST00000317635.5	-	2	980	c.509T>A	c.(508-510)cTg>cAg	p.L170Q	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	170					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGTGTTGTGCAGTCTCTTTCT	0.542																																																	0								ENSG00000178307						182	151	161					17																	21101707		2203	4300	6503	TMEM11	SO:0001583	missense	0			-	HGNC	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 35"	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.509T>A	17.37:g.21101707A>T	ENSP00000319992:p.Leu170Gln	Somatic	0	64	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q53YB2	Missense_Mutation	SNP							NULL	p.L170Q	ENST00000317635.5	37	c.509	CCDS11216.1	17	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580136	0.86645	.	.	ENSG00000178307	ENST00000317635	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81127	-0.1074	9	0.87932	D	0	-15.958	16.1063	0.81225	1.0:0.0:0.0:0.0	.	170	P17152	TMM11_HUMAN	Q	170	.	ENSP00000319992:L170Q	L	-	2	0	TMEM11	21042299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.788000	0.91834	2.205000	0.71048	0.528000	0.53228	CTG	-	NULL		0.542	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM11	protein_coding	OTTHUMT00000444150.2	A	NM_003876	-		21101707	-1	no_errors	ENST00000317635	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21101707	A	T	21101707	3	4	108	1	0	0	0	0	1	0	0	0	16033	188	7	5	73	5	TMEM11	17	21101707	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	13523495	21101707	60093503	60	7174											
TMEM199	147007	genome.wustl.edu	37	chr17	26685947	26685947	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttctcagattccaaaCtatacctccatgagctccta	3	13	2	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr17:26685947C>G	ENST00000292114.3	+	2	310	c.220C>G	c.(220-222)Cta>Gta	p.L74V	TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.7_ENST00000577850.1_RNA|TMEM199_ENST00000395404.3_Intron|POLDIP2_ENST00000003607.4_5'Flank|POLDIP2_ENST00000540200.1_5'Flank|MIR4723_ENST00000585070.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.L74V	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	74						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGATTCCAAACTATACCTCCA	0.443																																																	0								ENSG00000244045						129	117	121					17																	26685947		2203	4300	6503	TMEM199	SO:0001583	missense	0			-	HGNC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.220C>G	17.37:g.26685947C>G	ENSP00000292114:p.Leu74Val	Somatic	0	55	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81		Missense_Mutation	SNP							pfam_ATPase_Vma12	p.L74V	ENST00000292114.3	37	c.220	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	C	7.854	0.724680	0.15439	.	.	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.30714	1.63;1.52	5.63	-0.0502	0.13831	.	0.318769	0.32836	N	0.005583	T	0.08403	0.0209	N	0.02916	-0.46	0.09310	N	1	B;B	0.21520	0.057;0.001	B;B	0.22753	0.041;0.001	T	0.25187	-1.0139	10	0.09338	T	0.73	-3.149	2.2108	0.03947	0.1216:0.4359:0.2365:0.206	.	74;74	E9PBQ3;Q8N511	.;TM199_HUMAN	V	74	ENSP00000292114:L74V;ENSP00000427614:L74V	ENSP00000292114:L74V	L	+	1	2	TMEM199	23710074	0.001000	0.12720	0.063000	0.19743	0.850000	0.48378	-0.112000	0.10791	0.066000	0.16515	-0.830000	0.03078	CTA	-	NULL		0.443	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM199	protein_coding	OTTHUMT00000255676.2	C	NM_152464	-		26685947	1	no_errors	ENST00000509083	ensembl	human	known	74_37	missense	SNP	0.018	G	G	26685947	C	G	26685947	3	3	108	1	0	0	0	0	1	0	0	0	16127	564	20	4	226	4	TMEM199	17	26685947	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	5584240	26685947	54509263	61	7175											
CCL15	6359	genome.wustl.edu	37	chr17	34324877	34324877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttggcacagacttgccGccccttcttggtgaggaatc	13	11	1	2	rs138739843		TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr17:34324877G>A	ENST00000354059.4	-	4	820	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.R90W	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	90					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGACTTGCCGCCCCTTCTTG	0.522																																																	0								ENSG00000267596	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56	55	55		268	-9.4	0	17	dbSNP_134	55	0,8600		0,0,4300	no	missense	CCL15	NM_032965.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	90/114	34324877	1,13005	2203	4300	6503	CCL15	SO:0001583	missense	0			-	HGNC	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.268C>T	17.37:g.34324877G>A	ENSP00000293276:p.Arg90Trp	Somatic	0	60	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.06	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R90W	ENST00000354059.4	37	c.268	CCDS11304.1	17	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710305	0.48517	2.27E-4	0.0	ENSG00000161574	ENST00000354059	T	0.07327	3.2	4.72	-9.44	0.00603	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.654160	0.04448	N	0.372034	T	0.30448	0.0765	M	0.90705	3.14	0.09310	N	1	D	0.89917	1.0	D	0.63957	0.92	T	0.59799	-0.7386	10	0.87932	D	0	.	14.6518	0.68803	0.0668:0.0:0.1316:0.8015	.	90	Q16663	CCL15_HUMAN	W	90	ENSP00000293276:R90W	ENSP00000293276:R90W	R	-	1	2	CCL15	31348990	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.875000	0.01634	-2.539000	0.00486	0.591000	0.81541	CGG	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.522	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL15	protein_coding	OTTHUMT00000256584.2	G	NM_004167	rs138739843		34324877	-1	no_errors	ENST00000354059	ensembl	human	known	74_37	missense	SNP	0.000	A	A	34324877	G	A	34324877	3	1	108	1	0	0	0	0	1	0	0	0	2888	1086	38	1	77	1	CCL15	17	34324877	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	7638930	34324877	46870333	62	7176											
SRCIN1	80725	genome.wustl.edu	37	chr17	36700164	36700164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagccgagaggcccccGgagtcaccaccttcatgggt	11	16	3	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr17:36700164G>A	ENST00000264659.7	-	18	3535	c.3311C>T	c.(3310-3312)cCg>cTg	p.P1104L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1138L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	976					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGAGGCCCCCGGAGTCACCAC	0.627																																																	0								ENSG00000017373						20	24	22					17																	36700164		2166	4262	6428	SRCIN1	SO:0001583	missense	0			-	HGNC		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3311C>T	17.37:g.36700164G>A	ENSP00000264659:p.Pro1104Leu	Somatic	0	137	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	101	29.86	Q75T46|Q8N4W8	Missense_Mutation	SNP							pfam_AIP3_C	p.P1104L	ENST00000264659.7	37	c.3311	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495434	0.64186	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.49720	0.77	5.23	4.25	0.50352	.	0.070532	0.64402	D	0.000016	T	0.42177	0.1191	L	0.44542	1.39	0.51012	D	0.999901	D;D;P	0.57257	0.979;0.958;0.905	B;B;B	0.42995	0.404;0.266;0.194	T	0.44967	-0.9293	10	0.72032	D	0.01	-8.4047	13.0983	0.59206	0.0803:0.0:0.9197:0.0	.	976;976;1104	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	L	1104;885;999	ENSP00000264659:P1104L	ENSP00000264659:P1104L	P	-	2	0	SRCIN1	33953690	1.000000	0.71417	0.901000	0.35422	0.981000	0.71138	4.143000	0.58051	1.179000	0.42884	0.462000	0.41574	CCG	-	NULL		0.627	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	protein_coding	OTTHUMT00000441878.4	G	NM_025248	-		36700164	-1	no_errors	ENST00000264659	ensembl	human	known	74_37	missense	SNP	0.995	A	A	36700164	G	A	36700164	3	1	108	1	0	0	0	0	1	0	0	0	15143	1116	39	1	248	1	SRCIN1	17	36700164	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	2375287	36700164	44495046	63	7177											
KRT12	3859	genome.wustl.edu	37	chr17	39023145	39023145	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgcccccaaatcccatCcccagccctccaaagctacc	6	21	0	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr17:39023145C>T	ENST00000251643.4	-	1	317	c.294G>A	c.(292-294)ggG>ggA	p.G98G		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	98	Gly-rich.|Head.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CAAATCCCATCCCCAGCCCTC	0.562																																																	0								ENSG00000187242						99	120	113					17																	39023145		2203	4300	6503	KRT12	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.294G>A	17.37:g.39023145C>T		Somatic	0	75	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	35	36.84	B2R9E0	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G98	ENST00000251643.4	37	c.294	CCDS11378.1	17																																																																																			-	NULL		0.562	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	protein_coding	OTTHUMT00000257214.2	C	NM_000223	-		39023145	-1	no_errors	ENST00000251643	ensembl	human	known	74_37	silent	SNP	0.002	T	T	39023145	C	T	39023145	2	4	108	1	0	0	0	0	0	0	0	1	8451	842	30	2		2	KRT12	17	39023145	Silent	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	2322981	39023145	42172065	64	7178											
PRX	57716	genome.wustl.edu	37	chr19	40900931	40900931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagccccctctgccctccCttcctcctgggcgcccagcg	8	23	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr19:40900931C>A	ENST00000324001.7	-	7	3598	c.3328G>T	c.(3328-3330)Ggg>Tgg	p.G1110W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1110	Glu-rich (acidic).				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)			TCTGCCCTCCCTTCCTCCTGG	0.662																																																	0								ENSG00000105227						56	54	55					19																	40900931		2203	4300	6503	PRX	SO:0001583	missense	0			-	HGNC	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.3328G>T	19.37:g.40900931C>A	ENSP00000326018:p.Gly1110Trp	Somatic	0	39	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q9BXL9|Q9HCF2	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1110W	ENST00000324001.7	37	c.3328	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	9.311	1.055691	0.19907	.	.	ENSG00000105227	ENST00000324001	T	0.01076	5.37	4.9	4.9	0.64082	.	0.547049	0.16639	N	0.205718	T	0.04003	0.0112	L	0.53249	1.67	0.24293	N	0.995153	D	0.61697	0.99	P	0.62014	0.897	T	0.30707	-0.9969	10	0.72032	D	0.01	-7.0052	10.6333	0.45549	0.1913:0.8087:0.0:0.0	.	1110	Q9BXM0	PRAX_HUMAN	W	1110	ENSP00000326018:G1110W	ENSP00000326018:G1110W	G	-	1	0	PRX	45592771	0.004000	0.15560	0.323000	0.25347	0.062000	0.15995	1.899000	0.39818	2.558000	0.86282	0.491000	0.48974	GGG	-	NULL		0.662	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	C	NM_020956	-		40900931	-1	no_errors	ENST00000324001	ensembl	human	known	74_37	missense	SNP	0.200	A	A	40900931	C	A	40900931	3	1	108	1	0	0	0	0	1	0	0	0	12647	681	24	3	1061	3	PRX	19	40900931	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09		40900931	18228052	65	7179											
CEACAM5	1048	genome.wustl.edu	37	chr19	42224881	42224881	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catttcccccccagactcgtCttacctttcgggagcgaacc	7	17	1	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr19:42224881C>G	ENST00000221992.6	+	8	1925	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S603C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S604C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	604	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAGACTCGTCTTACCTTTCG	0.547																																																	0								ENSG00000105388						139	137	138					19																	42224881		2203	4300	6503	CEACAM5	SO:0001583	missense	0			-	HGNC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1811C>G	19.37:g.42224881C>G	ENSP00000221992:p.Ser604Cys	Somatic	0	79	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	H9KVA7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S604C	ENST00000221992.6	37	c.1811	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018138	0.19355	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.13307	2.6;2.6	2.17	-0.0978	0.13631	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28699	0.0711	M	0.77486	2.375	0.09310	N	1	D;P	0.58970	0.984;0.953	D;P	0.66196	0.942;0.819	T	0.11275	-1.0594	9	0.56958	D	0.05	.	2.9099	0.05733	0.4808:0.3367:0.1824:0.0	.	604;604	P06731;Q53G30	CEAM5_HUMAN;.	C	604;604;322	ENSP00000221992:S604C;ENSP00000385072:S604C	ENSP00000221992:S604C	S	+	2	0	CEACAM5	46916721	0.010000	0.17322	0.002000	0.10522	0.004000	0.04260	0.717000	0.25851	-0.073000	0.12842	0.467000	0.42956	TCT	-	smart_Ig_sub,pfscan_Ig-like_dom		0.547	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	protein_coding	OTTHUMT00000321132.2	C	NM_004363	-		42224881	1	no_errors	ENST00000221992	ensembl	human	known	74_37	missense	SNP	0.002	G	G	42224881	C	G	42224881	3	3	108	1	0	0	0	0	1	0	0	0	3197	913	32	4	1841	4	CEACAM5	19	42224881	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	1323950	42224881	16904102	66	7180											
ZNF175	7728	genome.wustl.edu	37	chr19	52090690	52090690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctataaatgccatgactgtgGaaaagcctttttccagatgt	8	8	0	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr19:52090690G>T	ENST00000262259.2	+	5	1464	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	369					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATGACTGTGGAAAAGCCTTT	0.408																																																	0								ENSG00000105497						105	110	108					19																	52090690		2203	4300	6503	ZNF175	SO:0001583	missense	0			-	HGNC	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1106G>T	19.37:g.52090690G>T	ENSP00000262259:p.Gly369Val	Somatic	0	37	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A8K9H2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G369V	ENST00000262259.2	37	c.1106	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780071	0.49891	.	.	ENSG00000105497	ENST00000262259	T	0.23754	1.89	2.3	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60090	0.2242	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71391	-0.4607	9	0.87932	D	0	.	10.7252	0.46064	0.0:0.0:1.0:0.0	.	369	Q9Y473	ZN175_HUMAN	V	369	ENSP00000262259:G369V	ENSP00000262259:G369V	G	+	2	0	ZNF175	56782502	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.531000	0.53546	1.614000	0.50241	0.563000	0.77884	GGA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	protein_coding	OTTHUMT00000396205.1	G	NM_007147	-		52090690	1	no_errors	ENST00000262259	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52090690	G	T	52090690	3	4	108	1	0	0	0	0	1	0	0	0	17752	1174	41	3	1120	3	ZNF175	19	52090690	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	9865809	52090690	7038293	67	7181											
LILRB5	10990	genome.wustl.edu	37	chr19	54758267	54758267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtaggtgagaggctgggatCcccagagggtcctgggaata	17	7	0	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr19:54758267C>A	ENST00000316219.5	-	7	1374	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	LILRB5_ENST00000345866.6_Missense_Mutation_p.D323Y|LILRB5_ENST00000450632.1_Missense_Mutation_p.D414Y|LILRB5_ENST00000449561.2_Missense_Mutation_p.D423Y	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGCTGGGATCCCCAGAGGGT	0.637																																																	0								ENSG00000105609						27	30	29					19																	54758267		2196	4296	6492	LILRB5	SO:0001583	missense	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1267G>T	19.37:g.54758267C>A	ENSP00000320390:p.Asp423Tyr	Somatic	0	61	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	Q8N760	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D414Y	ENST00000316219.5	37	c.1240	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	C	8.966	0.971728	0.18736	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00491	7.07;7.02;7.07;7.1	1.96	-3.93	0.04143	.	.	.	.	.	T	0.00724	0.0024	M	0.66939	2.045	0.09310	N	1	D;D;B;P	0.57257	0.966;0.979;0.251;0.93	P;P;B;P	0.53593	0.73;0.62;0.159;0.454	T	0.15292	-1.0442	9	0.62326	D	0.03	.	3.0058	0.06028	0.1405:0.2536:0.475:0.1309	.	414;323;423;423	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	Y	423;414;423;323	ENSP00000320390:D423Y;ENSP00000414225:D414Y;ENSP00000406478:D423Y;ENSP00000263430:D323Y	ENSP00000320390:D423Y	D	-	1	0	LILRB5	59450079	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.303000	0.08210	-2.004000	0.00961	-1.548000	0.00902	GAT	-	NULL		0.637	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	C		-		54758267	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	SNP	0.000	A	A	54758267	C	A	54758267	3	1	108	1	0	0	0	0	1	0	0	0	8796	855	30	3	536	3	LILRB5	19	54758267	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	2667577	54758267	4370716	68	7182											
SIRPB2	284759	genome.wustl.edu	37	chr20	1456846	1456846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccatgctaaggtgttcAtggctcctgctgggcctgtg	13	11	1	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr20:1456846A>C	ENST00000359801.3	-	5	1031	c.995T>G	c.(994-996)aTg>aGg	p.M332R	SIRPB2_ENST00000608747.1_5'Flank|SIRPB2_ENST00000444444.2_Missense_Mutation_p.M234R	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	366	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAAGGTGTTCATGGCTCCTGC	0.587																																																	0								ENSG00000196209						144	125	131					20																	1456846		1568	3582	5150	SIRPB2	SO:0001583	missense	0			-	HGNC	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.995T>G	20.37:g.1456846A>C	ENSP00000352849:p.Met332Arg	Somatic	0	52	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.M332R	ENST00000359801.3	37	c.995	CCDS42849.1	20	.	.	.	.	.	.	.	.	.	.	A	8.690	0.907264	0.17833	.	.	ENSG00000196209	ENST00000359801;ENST00000444444	T;T	0.02197	4.62;4.4	3.46	-2.0	0.07433	.	8.769010	0.00424	U	0.000060	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	B;B	0.16166	0.016;0.008	B;B	0.12156	0.007;0.007	T	0.42749	-0.9433	10	0.10902	T	0.67	-7.7086	0.9568	0.01387	0.2579:0.3219:0.1042:0.3159	.	234;332	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	R	332;234	ENSP00000352849:M332R;ENSP00000402438:M234R	ENSP00000352849:M332R	M	-	2	0	SIRPB2	1404846	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.349000	0.07731	-0.433000	0.07286	0.402000	0.26972	ATG	-	NULL		0.587	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	protein_coding	OTTHUMT00000077544.1	A	NM_178459	-		1456846	-1	no_errors	ENST00000359801	ensembl	human	known	74_37	missense	SNP	0.000	C	C	1456846	A	C	1456846	3	2	108	1	0	0	0	0	1	0	0	0	14342	217	8	5	37	5	SIRPB2	20	1456846	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09		1456846	61568674	69	7183											
RIN2	54453	genome.wustl.edu	37	chr20	19970901	19970901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgccggaaaagaaggtcAtgctgctgctgcgggtctgc	14	10	2	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr20:19970901A>G	ENST00000255006.6	+	9	2310	c.2161A>G	c.(2161-2163)Atg>Gtg	p.M721V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.M239V	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	672	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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						AAAGAAGGTCATGCTGCTGCT	0.557																																																	0								ENSG00000132669						45	46	46					20																	19970901		2056	4207	6263	RIN2	SO:0001583	missense	0			-	HGNC	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.2161A>G	20.37:g.19970901A>G	ENSP00000255006:p.Met721Val	Somatic	0	40	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP							pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.M721V	ENST00000255006.6	37	c.2161	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486371	0.26686	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.28255	1.62;1.62	5.83	4.67	0.58626	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.272590	0.45606	D	0.000342	T	0.15869	0.0382	N	0.11201	0.11	0.37198	D	0.904223	B;P	0.40144	0.028;0.704	B;B	0.36608	0.039;0.229	T	0.17167	-1.0378	9	.	.	.	-37.1052	12.4251	0.55542	0.8599:0.1401:0.0:0.0	.	239;672	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	V	721;239	ENSP00000255006:M721V;ENSP00000391239:M239V	.	M	+	1	0	RIN2	19918901	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	1.054000	0.30455	2.225000	0.72522	0.482000	0.46254	ATG	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	A		-		19970901	1	no_errors	ENST00000255006	ensembl	human	known	74_37	missense	SNP	1.000	G	G	19970901	A	G	19970901	3	3	108	1	0	0	0	0	1	0	0	0	13380	217	8	5	2044	5	RIN2	20	19970901	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	18514055	19970901	43054619	70	7184											
KIF3B	9371	genome.wustl.edu	37	chr20	30917948	30917948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgcttctgcaggcagAaaacattgtgctgttagagc	13	8	1	2			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr20:30917948A>G	ENST00000375712.3	+	8	2140	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	KIF3B_ENST00000418717.2_Missense_Mutation_p.E284G	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	658	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGCAGGCAGAAAACATTGTG	0.552																																																	0								ENSG00000101350						50	46	47					20																	30917948		2203	4300	6503	KIF3B	SO:0001583	missense	0			-	HGNC	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1973A>G	20.37:g.30917948A>G	ENSP00000364864:p.Glu658Gly	Somatic	0	55	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E658G	ENST00000375712.3	37	c.1973	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614297	0.87359	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.78126	-1.15;0.0	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	M	0.85777	2.775	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.62813	0.785;0.907	D	0.89294	0.3621	10	0.56958	D	0.05	.	14.5009	0.67722	1.0:0.0:0.0:0.0	.	284;658	B4DSR5;O15066	.;KIF3B_HUMAN	G	658;284	ENSP00000364864:E658G;ENSP00000406287:E284G	ENSP00000364864:E658G	E	+	2	0	KIF3B	30381609	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.609000	0.90898	2.069000	0.61940	0.533000	0.62120	GAA	-	NULL		0.552	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	protein_coding	OTTHUMT00000078619.1	A	NM_004798	-		30917948	1	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	SNP	1.000	G	G	30917948	A	G	30917948	3	3	108	1	0	0	0	0	1	0	0	0	8303	246	9	5	1999	5	KIF3B	20	30917948	Missense_Mutation	SNP	A	TCGA-DX-A8BV-01A-11D-A37C-09	10947047	30917948	32107572	71	7185											
NRIP1	8204	genome.wustl.edu	37	chr21	16337345	16337345	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttggtcaatcttggagagtCtttttcatactcattcttct	6	8	7	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr21:16337345C>G	ENST00000400202.1	-	3	3881	c.3169G>C	c.(3169-3171)Gac>Cac	p.D1057H	NRIP1_ENST00000400199.1_Missense_Mutation_p.D1057H|NRIP1_ENST00000318948.4_Missense_Mutation_p.D1057H|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1057	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTTGGAGAGTCTTTTTCATAC	0.418																																																	0								ENSG00000180530						155	149	151					21																	16337345		2203	4300	6503	NRIP1	SO:0001583	missense	0			-	HGNC	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3169G>C	21.37:g.16337345C>G	ENSP00000383063:p.Asp1057His	Somatic	0	77	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	77	23.76	Q8IWE8	Missense_Mutation	SNP							NULL	p.D1057H	ENST00000400202.1	37	c.3169	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948701	0.73787	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.27402	1.67;1.67;1.67	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52719	-0.8538	10	0.72032	D	0.01	-17.5931	20.4375	0.99097	0.0:1.0:0.0:0.0	.	1057	P48552	NRIP1_HUMAN	H	1057	ENSP00000383060:D1057H;ENSP00000383063:D1057H;ENSP00000327213:D1057H	ENSP00000327213:D1057H	D	-	1	0	NRIP1	15259216	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.356000	0.79445	2.906000	0.99361	0.655000	0.94253	GAC	-	NULL		0.418	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	protein_coding	OTTHUMT00000157926.1	C	NM_003489	-		16337345	-1	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	SNP	1.000	G	G	16337345	C	G	16337345	3	3	108	1	0	0	0	0	1	0	0	0	10654	913	32	4	311	4	NRIP1	21	16337345	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09		16337345	31792550	72	7186											
NRIP1	8204	genome.wustl.edu	37	chr21	16338470	16338470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actaaatgctttattttcttCaactgcatttgttttatttg	4	6	2	0			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr21:16338470C>T	ENST00000400202.1	-	3	2756	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	NRIP1_ENST00000400199.1_Missense_Mutation_p.E682K|NRIP1_ENST00000318948.4_Missense_Mutation_p.E682K|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	682	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTATTTTCTTCAACTGCATTT	0.388																																																	0								ENSG00000180530						106	104	105					21																	16338470		2203	4300	6503	NRIP1	SO:0001583	missense	0			-	HGNC	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2044G>A	21.37:g.16338470C>T	ENSP00000383063:p.Glu682Lys	Somatic	0	46	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	38	30.91	Q8IWE8	Missense_Mutation	SNP							NULL	p.E682K	ENST00000400202.1	37	c.2044	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078887	0.55753	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.23147	1.92;1.92;1.92	5.69	5.69	0.88448	.	0.154328	0.43416	D	0.000575	T	0.34337	0.0894	L	0.53249	1.67	0.46222	D	0.998935	P	0.50272	0.933	P	0.44811	0.461	T	0.08289	-1.0729	10	0.72032	D	0.01	-5.898	20.2085	0.98285	0.0:1.0:0.0:0.0	.	682	P48552	NRIP1_HUMAN	K	682	ENSP00000383060:E682K;ENSP00000383063:E682K;ENSP00000327213:E682K	ENSP00000327213:E682K	E	-	1	0	NRIP1	15260341	0.999000	0.42202	0.973000	0.42090	0.020000	0.10135	5.255000	0.65462	2.865000	0.98341	0.655000	0.94253	GAA	-	NULL		0.388	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	protein_coding	OTTHUMT00000157926.1	C	NM_003489	-		16338470	-1	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	SNP	0.997	T	T	16338470	C	T	16338470	3	4	108	1	0	0	0	0	1	0	0	0	10654	835	29	2	1436	2	NRIP1	21	16338470	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	1125	16338470	31791425	73	7187											
HSF2BP	11077	genome.wustl.edu	37	chr21	44949728	44949728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggacattgccaggatgCgttgcaggggcagggagctc	16	9	1	0	rs145814386		TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr21:44949728C>T	ENST00000291560.2	-	9	1242	c.911G>A	c.(910-912)cGc>cAc	p.R304H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R229H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	304					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TGCCAGGATGCGTTGCAGGGG	0.587																																																	0								ENSG00000160207	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	70	69		911	3.4	1	21	dbSNP_134	69	0,8600		0,0,4300	no	missense	HSF2BP	NM_007031.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	304/335	44949728	1,13005	2203	4300	6503	HSF2BP	SO:0001583	missense	0			-	HGNC	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.911G>A	21.37:g.44949728C>T	ENSP00000291560:p.Arg304His	Somatic	0	84	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	73	17.98	B4DX36	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R304H	ENST00000291560.2	37	c.911	CCDS13697.1	21	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489271	0.44249	2.27E-4	0.0	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.68331	-0.32;0.75	5.57	3.43	0.39272	Armadillo-like helical (1);Armadillo-type fold (1);	0.201479	0.53938	N	0.000050	T	0.50171	0.1600	N	0.25426	0.745	0.47214	D	0.999359	B	0.24651	0.108	B	0.17098	0.017	T	0.49041	-0.8980	10	0.41790	T	0.15	.	10.4185	0.44335	0.0:0.7628:0.0:0.2372	.	304	O75031	HSF2B_HUMAN	H	304;229	ENSP00000291560:R304H;ENSP00000443367:R229H	ENSP00000291560:R304H	R	-	2	0	HSF2BP	43774156	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.912000	0.39946	1.369000	0.46134	0.563000	0.77884	CGC	-	superfamily_ARM-type_fold		0.587	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	protein_coding	OTTHUMT00000195620.1	C	NM_007031	rs145814386		44949728	-1	no_errors	ENST00000291560	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44949728	C	T	44949728	3	4	108	1	0	0	0	0	1	0	0	0	7399	768	27	1	97	1	HSF2BP	21	44949728	Missense_Mutation	SNP	C	TCGA-DX-A8BV-01A-11D-A37C-09	28611258	44949728	3180167	74	7188											
C21orf29	54084	genome.wustl.edu	37	chr21	45929222	45929222	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtttgccacagcgaggaaGatcctctccccgatctggaa	10	13	2	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr21:45929222G>T	ENST00000323084.4	-	10	1679	c.1614C>A	c.(1612-1614)atC>atA	p.I538I	TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Silent_p.I470I	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	538					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CAGCGAGGAAGATCCTCTCCC	0.567																																																	0								ENSG00000175894						170	111	131					21																	45929222		2203	4300	6503	TSPEAR	SO:0001819	synonymous_variant	0			-	HGNC	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1614C>A	21.37:g.45929222G>T		Somatic	0	31	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Silent	SNP							pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.I538	ENST00000323084.4	37	c.1614	CCDS13712.1	21																																																																																			-	pfam_EPTP,pfscan_EAR		0.567	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	protein_coding	OTTHUMT00000098761.1	G	NM_144991	-		45929222	-1	no_errors	ENST00000323084	ensembl	human	known	74_37	silent	SNP	0.867	T	T	45929222	G	T	45929222	2	4	108	1	0	0	0	0	0	0	0	1	2126	932	33	3		3	C21orf29	21	45929222	Silent	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09	979494	45929222	2200673	75	7189											
CRYBA4	1413	genome.wustl.edu	37	chr22	27026429	27026429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgaccttccaggtgcagaGcatccgcaggatccagcagt	11	15	0	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chr22:27026429G>T	ENST00000354760.3	+	6	604	c.569G>T	c.(568-570)aGc>aTc	p.S190I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	190	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CAGGTGCAGAGCATCCGCAGG	0.582																																																	0								ENSG00000196431						50	45	47					22																	27026429		2203	4300	6503	CRYBA4	SO:0001583	missense	0			-	HGNC		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.569G>T	22.37:g.27026429G>T	ENSP00000346805:p.Ser190Ile	Somatic	0	65	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	Q4VB22|Q6ICE4	Missense_Mutation	SNP							pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S190I	ENST00000354760.3	37	c.569	CCDS13841.1	22	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569729	0.65765	.	.	ENSG00000196431	ENST00000354760	D	0.91521	-2.86	4.42	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.119374	0.56097	D	0.000028	D	0.96996	0.9019	H	0.99104	4.43	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96576	0.9427	10	0.87932	D	0	.	10.1525	0.42803	0.0:0.3257:0.6743:0.0	.	190	P53673	CRBA4_HUMAN	I	190	ENSP00000346805:S190I	ENSP00000346805:S190I	S	+	2	0	CRYBA4	25356429	1.000000	0.71417	0.926000	0.36857	0.347000	0.29111	5.456000	0.66665	2.299000	0.77371	0.555000	0.69702	AGC	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.582	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	protein_coding	OTTHUMT00000320793.1	G	NM_001886	-		27026429	1	no_errors	ENST00000354760	ensembl	human	known	74_37	missense	SNP	0.995	T	T	27026429	G	T	27026429	3	4	108	1	0	0	0	0	1	0	0	0	3911	971	34	3	587	3	CRYBA4	22	27026429	Missense_Mutation	SNP	G	TCGA-DX-A8BV-01A-11D-A37C-09		27026429	24278137	76	7190											
ZRSR2	8233	genome.wustl.edu	37	chrX	15836747	15836747	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctcacctgaggggcaatgTatatgttcagtaccagtcgt	10	10	2	1			TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chrX:15836747T>A	ENST00000307771.7	+	9	833	c.809T>A	c.(808-810)gTa>gAa	p.V270E		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	270	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGGGGCAATGTATATGTTCAG	0.403			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)			Rec	yes		X	Xp22.1	8233	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"		L	0								ENSG00000169249						255	189	211					X																	15836747		2203	4300	6503	ZRSR2	SO:0001583	missense	0			-	HGNC	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.809T>A	X.37:g.15836747T>A	ENSP00000303015:p.Val270Glu	Somatic	0	31	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.51	Q14D69	Missense_Mutation	SNP							pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small	p.V270E	ENST00000307771.7	37	c.809	CCDS14172.1	X	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197565	0.79015	.	.	ENSG00000169249	ENST00000307771	.	.	.	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90768	0.4670	9	0.87932	D	0	.	14.6192	0.68572	0.0:0.0:0.0:1.0	.	270	Q15696	U2AFM_HUMAN	E	270	.	ENSP00000303015:V270E	V	+	2	0	ZRSR2	15746668	1.000000	0.71417	0.976000	0.42696	0.856000	0.48823	7.806000	0.86020	1.833000	0.53350	0.425000	0.28330	GTA	-	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small		0.403	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRSR2	protein_coding	OTTHUMT00000055889.1	T	NM_005089	-		15836747	1	no_errors	ENST00000307771	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15836747	T	A	15836747	3	1	108	1	0	0	0	0	1	0	0	0	18232	1638	57	5	843	5	ZRSR2	23	15836747	Missense_Mutation	SNP	T	TCGA-DX-A8BV-01A-11D-A37C-09		15836747	139433813	77	7191											
ATRX	546	genome.wustl.edu	37	chrX	76937766	76937769	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													tttttcttaaagtctgaaggTttctttttttcttcagttcc					rs371962239		TCGA-DX-A8BV-01A-11D-A37C-09	TCGA-DX-A8BV-10A-01D-A37F-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853cc02-3315-40eb-8997-db4b02d27661	8533ae18-96d9-4fd5-b003-3dd8024121d2	g.chrX:76937766_76937769delTTTC	ENST00000373344.5	-	9	3193_3196	c.2979_2982delGAAA	c.(2977-2982)aagaaafs	p.KK993fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK955fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	993					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTCTGAAGGTTTCTTTTTTTCTT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2979_2982delGAAA	X.37:g.76937766_76937769delTTTC	ENSP00000362441:p.Lys993fs	Somatic	0	41	0		0.665074021194338				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K993fs	ENST00000373344.5	37	c.2982_2979	CCDS14434.1	X																																																																																			-	NULL		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TTTC	NM_000489			76937769	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	0.936:0.944:0.949:0.993	-	-	76937769	TTTC	-	76937766	7	5	108	1	0	1	0	1	0	0	0	0	1208	1722	60	0	4604	0	ATRX	23	76937766	Frame_Shift_Del	DEL	TTTC	TCGA-DX-A8BV-01A-11D-A37C-09	61101019	76937766	78332794	78	7192											
WDR8	49856	genome.wustl.edu	37	chr1	3553581	3553581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctgccaatcactgCagacgaagatgctcacgtaa	11	11	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:3553581C>T	ENST00000270708.7	-	5	567	c.494G>A	c.(493-495)tGc>tAc	p.C165Y	WRAP73_ENST00000378322.3_Missense_Mutation_p.C165Y	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	165						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CCAATCACTGCAGACGAAGAT	0.557																																																	0								ENSG00000116213						76	63	67					1																	3553581		2203	4298	6501	WRAP73	SO:0001583	missense	0			-	HGNC	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.494G>A	1.37:g.3553581C>T	ENSP00000270708:p.Cys165Tyr	Somatic	0	53	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.C165Y	ENST00000270708.7	37	c.494	CCDS48.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261244	0.59431	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.78924	3.48;3.66;-1.22	4.47	4.47	0.54385	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	M	0.80746	2.51	0.80722	D	1	D;B;P	0.71674	0.998;0.23;0.691	D;B;P	0.68192	0.956;0.203;0.447	D	0.85308	0.1077	10	0.22109	T	0.4	-43.1247	16.4881	0.84190	0.0:1.0:0.0:0.0	.	165;165;165	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	Y	165	ENSP00000270708:C165Y;ENSP00000367573:C165Y;ENSP00000416192:C165Y	ENSP00000270708:C165Y	C	-	2	0	WRAP73	3543441	1.000000	0.71417	0.961000	0.40146	0.816000	0.46133	7.350000	0.79385	2.191000	0.70037	0.655000	0.94253	TGC	-	NULL		0.557	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP73	protein_coding	OTTHUMT00000001470.1	C		-		3553581	-1	no_errors	ENST00000270708	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3553581	C	T	3553581	3	4	109	1	0	0	0	0	1	0	0	0	17336	710	25	2	920	2	WDR8	1	3553581	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		3553581	245697040	1	7193											
YRDC	79693	genome.wustl.edu	37	chr1	38270052	38270052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggcgacactcggggctcTggccatccccaatttgtccc	10	16	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:38270052T>C	ENST00000373044.2	-	4	693	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	C1orf122_ENST00000373043.1_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	230	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGGGGCTCTGGCCATCCCC	0.527																																																	0								ENSG00000196449						85	87	86					1																	38270052		2203	4300	6503	YRDC	SO:0001583	missense	0			-	HGNC		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"ischemia/reperfusion inducible protein"	612276	"yrdC domain containing (E.coli)", "yrdC domain containing (E. coli)"			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.689A>G	1.37:g.38270052T>C	ENSP00000362135:p.Gln230Arg	Somatic	0	45	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP							pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom	p.Q230R	ENST00000373044.2	37	c.689	CCDS30675.1	1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560143	0.27827	.	.	ENSG00000196449	ENST00000373044	.	.	.	5.6	5.6	0.85130	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.497994	0.20318	N	0.094696	T	0.31482	0.0798	L	0.28192	0.835	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.19418	-1.0306	9	0.48119	T	0.1	-5.4105	11.7475	0.51828	0.0:0.0:0.1471:0.8529	.	230	Q86U90	YRDC_HUMAN	R	230	.	ENSP00000362135:Q230R	Q	-	2	0	YRDC	38042639	0.965000	0.33210	0.994000	0.49952	0.979000	0.70002	2.630000	0.46494	2.130000	0.65690	0.528000	0.53228	CAG	-	pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom		0.527	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YRDC	protein_coding	OTTHUMT00000012470.1	T	NM_024640	-		38270052	-1	no_errors	ENST00000373044	ensembl	human	known	74_37	missense	SNP	0.091	C	C	38270052	T	C	38270052	3	2	109	1	0	0	0	0	1	0	0	0	17501	1580	55	5	158	5	YRDC	1	38270052	Missense_Mutation	SNP	T	TCGA-DX-A8BX-01A-11D-A37C-09	34716471	38270052	210980569	2	7194											
SPATA6	54558	genome.wustl.edu	37	chr1	48865230	48865230	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacttctctcaggtgacttGgattttttcttttgtgatct	7	7	4	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:48865230G>T	ENST00000371847.3	-	7	737	c.573C>A	c.(571-573)tcC>tcA	p.S191S	SPATA6_ENST00000371843.3_Silent_p.S191S|SPATA6_ENST00000396199.3_Silent_p.S119S|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	191					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CAGGTGACTTGGATTTTTTCT	0.333																																																	0								ENSG00000132122						164	168	166					1																	48865230		2203	4300	6503	SPATA6	SO:0001819	synonymous_variant	0			-	HGNC	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.573C>A	1.37:g.48865230G>T		Somatic	0	60	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q5T3N7|Q8WUE6	Silent	SNP							NULL	p.S191	ENST00000371847.3	37	c.573	CCDS551.1	1																																																																																			-	NULL		0.333	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	protein_coding	OTTHUMT00000021347.1	G	NM_019073	-		48865230	-1	no_errors	ENST00000371847	ensembl	human	known	74_37	silent	SNP	0.964	T	T	48865230	G	T	48865230	2	4	109	1	0	0	0	0	0	0	0	1	15020	1335	47	3		3	SPATA6	1	48865230	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	10595178	48865230	200385391	3	7195											
DAB1	1600	genome.wustl.edu	37	chr1	57602303	57602303	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttggaacgagcgccAgcaacaacgccctgttgaaa	9	13	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:57602303A>C	ENST00000371231.1	-	3	253	c.219T>G	c.(217-219)gcT>gcG	p.A73A	DAB1_ENST00000371234.4_Silent_p.A73A|DAB1_ENST00000420954.2_Silent_p.A73A|DAB1_ENST00000414851.2_Silent_p.A73A|DAB1_ENST00000371230.1_Silent_p.A73A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Silent_p.A73A|DAB1_ENST00000439789.2_Silent_p.A73A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	73	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AACGAGCGCCAGCAACAACGC	0.398																																																	0								ENSG00000173406						70	68	69					1																	57602303		2203	4300	6503	DAB1	SO:0001819	synonymous_variant	0			-	HGNC	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.219T>G	1.37:g.57602303A>C		Somatic	0	39	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A73	ENST00000371231.1	37	c.219		1																																																																																			-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.398	DAB1-010	KNOWN	basic	protein_coding	DAB1	protein_coding	OTTHUMT00000027962.1	A	NM_021080	-		57602303	-1	no_errors	ENST00000371231	ensembl	human	known	74_37	silent	SNP	0.993	C	C	57602303	A	C	57602303	2	2	109	1	0	0	0	0	0	0	0	1	4219	175	7	5		5	DAB1	1	57602303	Silent	SNP	A	TCGA-DX-A8BX-01A-11D-A37C-09	8737073	57602303	191648318	4	7196											
DNAJC6	9829	genome.wustl.edu	37	chr1	65871755	65871755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccgacccaactacaaCgtgagcttctcagccatgcc	7	16	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:65871755C>T	ENST00000395325.3	+	16	2416	c.2259C>T	c.(2257-2259)aaC>aaT	p.N753N	DNAJC6_ENST00000263441.7_Silent_p.N740N|DNAJC6_ENST00000371069.4_Silent_p.N810N	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	753	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCAACTACAACGTGAGCTTCT	0.587																																																	0								ENSG00000116675						115	108	111					1																	65871755		2203	4300	6503	DNAJC6	SO:0001819	synonymous_variant	0			-	HGNC	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2259C>T	1.37:g.65871755C>T		Somatic	0	62	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.N810	ENST00000395325.3	37	c.2430	CCDS30739.1	1																																																																																			-	superfamily_DnaJ_domain		0.587	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	protein_coding	OTTHUMT00000025134.1	C		-		65871755	1	no_errors	ENST00000371069	ensembl	human	known	74_37	silent	SNP	0.096	T	T	65871755	C	T	65871755	2	4	109	1	0	0	0	0	0	0	0	1	4655	535	19	1		1	DNAJC6	1	65871755	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	8269452	65871755	183378866	5	7197											
SPTA1	6708	genome.wustl.edu	37	chr1	158648297	158648297	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacctcattttgcttagactGaattaagggtaggtcaggat	10	7	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:158648297G>C	ENST00000368147.4	-	6	886	c.706C>G	c.(706-708)Cag>Gag	p.Q236E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	236					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTTAGACTGAATTAAGGGT	0.403																																																	0								ENSG00000163554						72	68	69					1																	158648297		1871	4104	5975	SPTA1	SO:0001583	missense	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.706C>G	1.37:g.158648297G>C	ENSP00000357129:p.Gln236Glu	Somatic	0	67	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.26	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q236E	ENST00000368147.4	37	c.706	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	7.679	0.688677	0.14973	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	4.66	-2.9	0.05648	.	0.956614	0.08483	N	0.939112	T	0.10035	0.0246	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37337	-0.9710	10	0.09084	T	0.74	.	9.8126	0.40833	0.0:0.0709:0.5401:0.3891	.	236	P02549	SPTA1_HUMAN	E	236	ENSP00000357130:Q236E;ENSP00000357129:Q236E	ENSP00000357129:Q236E	Q	-	1	0	SPTA1	156914921	0.563000	0.26594	0.002000	0.10522	0.004000	0.04260	0.370000	0.20433	-0.573000	0.05998	-1.496000	0.00964	CAG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	G	NM_003126	-		158648297	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	SNP	0.011	C	C	158648297	G	C	158648297	3	2	109	1	0	0	0	0	1	0	0	0	15123	1299	45	4	6741	4	SPTA1	1	158648297	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	92776542	158648297	90602324	6	7198											
CFHR5	81494	genome.wustl.edu	37	chr1	196963259	196963259	+	Frame_Shift_Del	DEL	A	A	-													gccaatgtagatgctcagccAaaaaaagaaagctacaaagt							TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:196963259delA	ENST00000256785.4	+	4	589	c.480delA	c.(478-480)ccafs	p.P160fs	CFHR5_ENST00000367414.5_Frame_Shift_Del_p.P184fs			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	160	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGCTCAGCCAAAAAAAGAAA	0.323																																																	0								ENSG00000134389						86	98	94					1																	196963259		2203	4300	6503	CFHR5	SO:0001589	frameshift_variant	0				HGNC	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.480delA	1.37:g.196963259delA	ENSP00000256785:p.Pro160fs	Somatic	0	31	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q2NKK2	Frame_Shift_Del	DEL							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E187fs	ENST00000256785.4	37	c.552	CCDS1387.1	1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.323	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	protein_coding	OTTHUMT00000088814.2	A	NM_030787			196963259	1	no_errors	ENST00000367414	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	196963259	A	-	196963259	7	5	109	1	0	1	0	1	0	0	0	0	3290	117	5	0	494	0	CFHR5	1	196963259	Frame_Shift_Del	DEL	A	TCGA-DX-A8BX-01A-11D-A37C-09	38314962	196963259	52287362	7	7199											
USH2A	7399	genome.wustl.edu	37	chr1	216591866	216591866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttactcacctgcacactaAgatgaatccatttcttcaca	3	12	3	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:216591866A>T	ENST00000307340.3	-	3	1027	c.641T>A	c.(640-642)cTt>cAt	p.L214H	USH2A_ENST00000366943.2_Missense_Mutation_p.L214H|USH2A_ENST00000366942.3_Missense_Mutation_p.L214H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	214					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCACACTAAGATGAATCCA	0.333										HNSCC(13;0.011)																																							0								ENSG00000042781						94	94	94					1																	216591866		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.641T>A	1.37:g.216591866A>T	ENSP00000305941:p.Leu214His	Somatic	0	72	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L214H	ENST00000307340.3	37	c.641	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042993	0.55003	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.77750	-1.12;-1.12;-1.12	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.38436	U	0.001684	D	0.84624	0.5513	L	0.48362	1.52	0.54753	D	0.999981	P;D	0.89917	0.635;1.0	B;D	0.77557	0.255;0.99	D	0.86234	0.1639	10	0.87932	D	0	.	15.809	0.78543	1.0:0.0:0.0:0.0	.	214;214	O75445-2;O75445	.;USH2A_HUMAN	H	214	ENSP00000305941:L214H;ENSP00000355910:L214H;ENSP00000355909:L214H	ENSP00000305941:L214H	L	-	2	0	USH2A	214658489	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.414000	0.73318	2.131000	0.65755	0.533000	0.62120	CTT	-	superfamily_ConA-like_lec_gl_sf,smart_LamG-like		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	A	NM_007123	-		216591866	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216591866	A	T	216591866	3	4	109	1	0	0	0	0	1	0	0	0	17043	72	3	5	15261	5	USH2A	1	216591866	Missense_Mutation	SNP	A	TCGA-DX-A8BX-01A-11D-A37C-09	19628607	216591866	32658755	8	7200											
OR2B11	127623	genome.wustl.edu	37	chr1	247614903	247614903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcttgcagatggccaCgtagcggtccagggccatgg	17	11	0	1	rs375546848		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr1:247614903C>T	ENST00000318749.6	-	1	405	c.382G>A	c.(382-384)Gtg>Atg	p.V128M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V128M(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGATGGCCACGTAGCGGTCC	0.612																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000177535	C	MET/VAL	0,4406		0,0,2203	84	69	74		382	3	0.6	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2B11	NM_001004492.1	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	128/318	247614903	1,13005	2203	4300	6503	OR2B11	SO:0001583	missense	0			-	HGNC		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.382G>A	1.37:g.247614903C>T	ENSP00000325682:p.Val128Met	Somatic	0	32	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B2RP03	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V128M	ENST00000318749.6	37	c.382	CCDS31090.1	1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221795	0.39300	0.0	1.16E-4	ENSG00000177535	ENST00000318749	T	0.01455	4.87	4.96	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.420814	0.19979	N	0.101813	T	0.02455	0.0075	L	0.55743	1.74	0.24069	N	0.995989	B	0.23735	0.09	B	0.17979	0.02	T	0.35574	-0.9783	10	0.62326	D	0.03	.	9.1849	0.37165	0.0:0.814:0.0:0.186	.	128	Q5JQS5	OR2BB_HUMAN	M	128	ENSP00000325682:V128M	ENSP00000325682:V128M	V	-	1	0	OR2B11	245681526	0.000000	0.05858	0.645000	0.29479	0.706000	0.40770	-0.524000	0.06222	0.766000	0.33244	-0.234000	0.12200	GTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B11	protein_coding	OTTHUMT00000097620.1	C	NM_001004492	-		247614903	-1	no_errors	ENST00000318749	ensembl	human	known	74_37	missense	SNP	0.666	T	T	247614903	C	T	247614903	3	4	109	1	0	0	0	0	1	0	0	0	10990	536	19	1	574	1	OR2B11	1	247614903	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	31023037	247614903	1635718	9	7201											
ALLC	55821	genome.wustl.edu	37	chr2	3750075	3750075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccttcggctccggggcttCcccagctccatctgcctcct	9	20	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr2:3750075C>T	ENST00000252505.3	+	12	1260	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	385					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCCGGGGCTTCCCCAGCTCCA	0.607										HNSCC(21;0.051)																																							0								ENSG00000151360						23	26	25					2																	3750075		1872	4089	5961	ALLC	SO:0001819	synonymous_variant	0			-	HGNC	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.1098C>T	2.37:g.3750075C>T		Somatic	0	19	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP							pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.F366	ENST00000252505.3	37	c.1098	CCDS46223.1	2																																																																																			-	superfamily_Galactose-bd-like		0.607	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	protein_coding	OTTHUMT00000322855.1	C		-		3750075	1	no_errors	ENST00000252505	ensembl	human	known	74_37	silent	SNP	0.993	T	T	3750075	C	T	3750075	2	4	109	1	0	0	0	0	0	0	0	1	534	854	30	2		2	ALLC	2	3750075	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		3750075	239449298	10	7202											
IL18RAP	8807	genome.wustl.edu	37	chr2	103068444	103068444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagctctcagggttttgCccacagttacttggagaggc	11	9	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr2:103068444C>T	ENST00000264260.2	+	12	2192	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P393S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	535	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGGGTTTTGCCCACAGTTAC	0.433																																																	0								ENSG00000115607						119	129	126					2																	103068444		2203	4300	6503	IL18RAP	SO:0001583	missense	0			-	HGNC	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1603C>T	2.37:g.103068444C>T	ENSP00000264260:p.Pro535Ser	Somatic	0	29	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.P535S	ENST00000264260.2	37	c.1603	CCDS2061.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168811	0.78339	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07114	3.22;3.22	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.19967	0.0480	L	0.39147	1.195	0.52501	D	0.999957	D	0.89917	1.0	D	0.91635	0.999	T	0.02378	-1.1168	10	0.05959	T	0.93	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	535	O95256	I18RA_HUMAN	S	535;393	ENSP00000264260:P535S;ENSP00000387201:P393S	ENSP00000264260:P535S	P	+	1	0	IL18RAP	102434876	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.677000	0.68142	2.857000	0.98124	0.650000	0.86243	CCC	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.433	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	protein_coding	OTTHUMT00000253291.2	C	NM_003853	-		103068444	1	no_errors	ENST00000264260	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103068444	C	T	103068444	3	4	109	1	0	0	0	0	1	0	0	0	7650	739	26	2	1641	2	IL18RAP	2	103068444	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	99318369	103068444	140130929	11	7203											
SCN2A	6326	genome.wustl.edu	37	chr2	166188073	166188073	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtactgtctgttggaAacctggtaagcctcactgag	12	9	2	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr2:166188073A>T	ENST00000375437.2	+	14	2673	c.2383A>T	c.(2383-2385)Aac>Tac	p.N795Y	SCN2A_ENST00000283256.6_Missense_Mutation_p.N795Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.N795Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.N795Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	795					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTGTTGGAAACCTGGTAAG	0.398																																																	0								ENSG00000136531						80	70	74					2																	166188073		2203	4299	6502	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2383A>T	2.37:g.166188073A>T	ENSP00000364586:p.Asn795Tyr	Somatic	0	57	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.N795Y	ENST00000375437.2	37	c.2383	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443187	0.83993	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.99273	4.495	0.80722	D	1	P;P	0.47106	0.89;0.869	P;D	0.65140	0.652;0.932	D	0.98227	1.0481	10	0.87932	D	0	.	15.6948	0.77488	1.0:0.0:0.0:0.0	.	795;795	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	795	ENSP00000364586:N795Y;ENSP00000349973:N795Y;ENSP00000283256:N795Y;ENSP00000364576:N795Y	ENSP00000283256:N795Y	N	+	1	0	SCN2A	165896319	1.000000	0.71417	0.992000	0.48379	0.911000	0.54048	9.339000	0.96797	2.114000	0.64651	0.477000	0.44152	AAC	-	pfam_Ion_trans_dom		0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	A	NM_021007	-		166188073	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166188073	A	T	166188073	3	4	109	1	0	0	0	0	1	0	0	0	13924	14	1	5	2529	5	SCN2A	2	166188073	Missense_Mutation	SNP	A	TCGA-DX-A8BX-01A-11D-A37C-09	63119629	166188073	77011300	12	7204											
AGPS	8540	genome.wustl.edu	37	chr2	178257538	178257538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcggaggcggcggctgcAgcgggtgggactggcttggg	23	8	0	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr2:178257538A>G	ENST00000264167.4	+	1	167	c.21A>G	c.(19-21)gcA>gcG	p.A7A	NFE2L2_ENST00000464747.1_5'Flank|AGPS_ENST00000409888.1_Silent_p.A7A|AC074286.1_ENST00000397057.2_RNA	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	7	Poly-Ala.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CGGCGGCTGCAGCGGGTGGGA	0.766																																																	0								ENSG00000018510						2	3	3					2																	178257538		1222	2857	4079	AGPS	SO:0001819	synonymous_variant	0			-	HGNC	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.21A>G	2.37:g.178257538A>G		Somatic	0	27	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A5D8U9|Q2TU35	Silent	SNP							pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.A7	ENST00000264167.4	37	c.21	CCDS2275.1	2																																																																																			-	NULL		0.766	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	protein_coding	OTTHUMT00000255730.2	A		-		178257538	1	no_errors	ENST00000264167	ensembl	human	known	74_37	silent	SNP	0.895	G	G	178257538	A	G	178257538	2	3	109	1	0	0	0	0	0	0	0	1	394	175	7	5		5	AGPS	2	178257538	Silent	SNP	A	TCGA-DX-A8BX-01A-11D-A37C-09	12069465	178257538	64941835	13	7205											
ZNF662	389114	genome.wustl.edu	37	chr3	42955859	42955859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagattttattctgaaGgaggaaattattgaggaagc	11	2	1	4	rs563797609		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr3:42955859G>T	ENST00000541208.1	+	5	663	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ZNF662_ENST00000328199.6_Missense_Mutation_p.K124N|ZNF662_ENST00000440367.2_Missense_Mutation_p.K98N|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	98					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(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTATTCTGAAGGAGGAAATTA	0.428																																																	0								ENSG00000182983						76	80	79					3																	42955859		2203	4300	6503	ZNF662	SO:0001583	missense	0			-	HGNC	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.294G>T	3.37:g.42955859G>T	ENSP00000446208:p.Lys98Asn	Somatic	0	45	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.00	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K124N	ENST00000541208.1	37	c.372	CCDS2708.1	3	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482604	0.12581	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.54675	0.56;0.56;0.56	2.83	-0.0627	0.13780	.	.	.	.	.	T	0.48537	0.1505	L	0.33485	1.01	0.09310	N	1	D;D	0.62365	0.991;0.985	P;P	0.56514	0.8;0.636	T	0.39121	-0.9629	9	0.25751	T	0.34	.	6.5595	0.22479	0.3893:0.0:0.6107:0.0	.	124;98	F8W7S8;Q6ZS27	.;ZN662_HUMAN	N	98;124;98	ENSP00000405047:K98N;ENSP00000329264:K124N;ENSP00000446208:K98N	ENSP00000329264:K124N	K	+	3	2	ZNF662	42930863	0.010000	0.17322	0.440000	0.26846	0.115000	0.19883	0.046000	0.14035	0.098000	0.17522	-0.266000	0.10368	AAG	-	NULL		0.428	ZNF662-201	KNOWN	basic|CCDS	protein_coding	ZNF662	protein_coding	OTTHUMT00000256646.4	G	NM_207404	-		42955859	1	no_errors	ENST00000328199	ensembl	human	known	74_37	missense	SNP	0.006	T	T	42955859	G	T	42955859	3	4	109	1	0	0	0	0	1	0	0	0	18078	991	35	3	495	3	ZNF662	3	42955859	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		42955859	155066571	14	7206											
ZNF80	7634	genome.wustl.edu	37	chr3	113955135	113955135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagagtggatcttactctGttgggcaaaagcagagtggt	13	7	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr3:113955135G>T	ENST00000482457.2	-	1	1290	c.787C>A	c.(787-789)Cag>Aag	p.Q263K	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	263					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ATCTTACTCTGTTGGGCAAAA	0.413																																					GBM(23;986 1114 21716)												0								ENSG00000174255						81	84	83					3																	113955135		2203	4300	6503	ZNF80	SO:0001583	missense	0			-	HGNC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.787C>A	3.37:g.113955135G>T	ENSP00000417192:p.Gln263Lys	Somatic	0	63	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	Q6NSW4|Q6NT14	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q263K	ENST00000482457.2	37	c.787	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636638	0.29068	.	.	ENSG00000174255	ENST00000482457	T	0.05199	3.48	2.94	2.06	0.26882	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	L	0.38175	1.15	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.30909	-0.9962	9	0.87932	D	0	.	8.1683	0.31239	0.1269:0.0:0.8731:0.0	.	263	P51504	ZNF80_HUMAN	K	263	ENSP00000417192:Q263K	ENSP00000309812:Q263K	Q	-	1	0	ZNF80	115437825	0.391000	0.25221	0.001000	0.08648	0.007000	0.05969	3.411000	0.52672	0.795000	0.33922	0.561000	0.74099	CAG	-	NULL		0.413	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	protein_coding	OTTHUMT00000354696.2	G	NM_007136	-		113955135	-1	no_errors	ENST00000308095	ensembl	human	known	74_37	missense	SNP	0.010	T	T	113955135	G	T	113955135	3	4	109	1	0	0	0	0	1	0	0	0	18175	1386	48	3	38	3	ZNF80	3	113955135	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	70999276	113955135	84067295	15	7207											
ASTE1	28990	genome.wustl.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T													ggtattctgtttcttctgccINStttttttttttgaatttgat							TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)						ENSG00000034533																																			ASTE1	SO:0001589	frameshift_variant	0				HGNC	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.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs	Somatic	0	29	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS							pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			-	NULL		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	-	NM_014065			130733047	-1	no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_ins	INS	0.003:0.014	T	T	130733047	-	T	130733046	7	5	109	1	0	1	1	0	0	0	0	0	1062	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-DX-A8BX-01A-11D-A37C-09	16777911	130733046	67289384	16	7208											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	9	8	4	4	rs121913286		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)						ENSG00000121879						61	61	61					3																	178936094		1814	4072	5886	PIK3CA	SO:0001583	missense	0			-	HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	Somatic	0	55	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	35	33.96	Q14CW1|Q99762	Missense_Mutation	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546K	ENST00000263967.3	37	c.1636	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	C		rs121913286		178936094	1	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	SNP	1.000	A	A	178936094	C	A	178936094	3	1	109	1	0	0	0	0	1	0	0	0	11915	711	25	3	1670	3	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	48203048	178936094	19086336	17	7209											
DGKQ	1609	genome.wustl.edu	37	chr4	961378	961378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcgggacaccgtgacgaGgcggaactggcttcttctca	14	12	2	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr4:961378G>T	ENST00000273814.3	-	8	1019	c.946C>A	c.(946-948)Ctc>Atc	p.L316I	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	316					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCGTGACGAGGCGGAACTGG	0.687																																					Esophageal Squamous(17;537 645 4447 26373)												0								ENSG00000145214						56	54	54					4																	961378		2201	4300	6501	DGKQ	SO:0001583	missense	0			-	HGNC	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.946C>A	4.37:g.961378G>T	ENSP00000273814:p.Leu316Ile	Somatic	0	48	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q6P3W4	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L316I	ENST00000273814.3	37	c.946	CCDS3342.1	4	.	.	.	.	.	.	.	.	.	.	g	2.655	-0.280981	0.05642	.	.	ENSG00000145214	ENST00000273814	T	0.80653	-1.4	4.97	2.24	0.28232	.	0.793230	0.11281	N	0.580373	T	0.65354	0.2683	N	0.20986	0.625	0.09310	N	1	B;B	0.19331	0.017;0.035	B;B	0.17722	0.012;0.019	T	0.47156	-0.9139	10	0.17832	T	0.49	.	7.508	0.27555	0.1022:0.4191:0.4787:0.0	.	316;316	E9KL49;P52824	.;DGKQ_HUMAN	I	316	ENSP00000273814:L316I	ENSP00000273814:L316I	L	-	1	0	DGKQ	951378	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.133000	0.15912	0.118000	0.18165	-0.341000	0.08007	CTC	-	NULL		0.687	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKQ	protein_coding	OTTHUMT00000200888.1	G		-		961378	-1	no_errors	ENST00000273814	ensembl	human	known	74_37	missense	SNP	0.037	T	T	961378	G	T	961378	3	4	109	1	0	0	0	0	1	0	0	0	4475	1000	35	3	1946	3	DGKQ	4	961378	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		961378	190192898	18	7210											
HTT	3064	genome.wustl.edu	37	chr4	3208620	3208620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgctgtatgtggacagGcttctgtgcacccctttccg	10	14	2	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr4:3208620G>T	ENST00000355072.5	+	44	6130	c.5985G>T	c.(5983-5985)agG>agT	p.R1995S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1995					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGTGGACAGGCTTCTGTGCA	0.532																																																	0								ENSG00000197386						73	71	72					4																	3208620		1998	4170	6168	HTT	SO:0001583	missense	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5985G>T	4.37:g.3208620G>T	ENSP00000347184:p.Arg1995Ser	Somatic	0	33	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q9UQB7	Missense_Mutation	SNP							pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.R1995S	ENST00000355072.5	37	c.5985	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416773	0.62511	.	.	ENSG00000197386	ENST00000355072	T	0.06371	3.31	5.45	4.59	0.56863	.	0.097789	0.64402	D	0.000002	T	0.05686	0.0149	N	0.14661	0.345	0.36512	D	0.869623	B	0.21381	0.055	B	0.21151	0.033	T	0.28170	-1.0052	10	0.87932	D	0	.	16.316	0.82928	0.0:0.1326:0.8674:0.0	.	1995	P42858	HD_HUMAN	S	1995	ENSP00000347184:R1995S	ENSP00000347184:R1995S	R	+	3	2	HTT	3178418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.584000	0.67490	1.396000	0.46663	0.655000	0.94253	AGG	-	NULL		0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	G	NM_002111	-		3208620	1	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3208620	G	T	3208620	3	4	109	1	0	0	0	0	1	0	0	0	7459	1194	42	3	6159	3	HTT	4	3208620	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	2247242	3208620	187945656	19	7211											
CPZ	8532	genome.wustl.edu	37	chr4	8609140	8609140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagatgttttctcccacGcccgacgagaaggtgagagg	14	9	1	4			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr4:8609140G>A	ENST00000360986.4	+	7	1389	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Silent_p.T268T|CPZ_ENST00000315782.6_Silent_p.T394T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	405					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTCTCCCACGCCCGACGAGA	0.632											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000109625						79	68	72					4																	8609140		2203	4300	6503	CPZ	SO:0001819	synonymous_variant	0			-	HGNC	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1215G>A	4.37:g.8609140G>A		Somatic	0	55	0	650	0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	37.21	O00520|Q96MX2	Silent	SNP							pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.T405	ENST00000360986.4	37	c.1215	CCDS33953.1	4																																																																																			-	pfam_Peptidase_M14,smart_Peptidase_M14		0.632	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	protein_coding	OTTHUMT00000207001.4	G	NM_003652	-		8609140	1	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	SNP	0.006	A	A	8609140	G	A	8609140	2	1	109	1	0	0	0	0	0	0	0	1	3841	1074	38	1		1	CPZ	4	8609140	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	5400520	8609140	182545136	20	7212											
KIAA1109	84162	genome.wustl.edu	37	chr4	123150375	123150375	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atatttacattgttgagcatGgttgtgctacaaatataaag	8	4	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr4:123150375G>C	ENST00000264501.4	+	25	3395	c.3022G>C	c.(3022-3024)Ggt>Cgt	p.G1008R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.G1008R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G1008R|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1008					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						TGTTGAGCATGGTTGTGCTAC	0.358																																																	0								ENSG00000138688						224	204	210					4																	123150375		1879	4118	5997	KIAA1109	SO:0001583	missense	0			-	HGNC	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.3022G>C	4.37:g.123150375G>C	ENSP00000264501:p.Gly1008Arg	Somatic	0	65	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP							pfam_Fragile_site-assoc_C	p.G1008R	ENST00000264501.4	37	c.3022	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.852284|4.852284	0.91355|0.91355	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.53423|.	0.62;0.62;0.62|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.179586|.	0.35096|.	U|.	0.003441|.	T|T	0.69205|0.69205	0.3085|0.3085	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.65413|0.65413	-0.6174|-0.6174	10|5	0.36615|.	T|.	0.2|.	.|.	19.0697|19.0697	0.93127|0.93127	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1008|.	Q2LD37|.	K1109_HUMAN|.	R|S	1008|839	ENSP00000264501:G1008R;ENSP00000373390:G1008R;ENSP00000389925:G1008R|.	ENSP00000264501:G1008R|.	G|W	+|+	1|2	0|0	KIAA1109|KIAA1109	123369825|123369825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.585000|9.585000	0.98223|0.98223	2.545000|2.545000	0.85829|0.85829	0.561000|0.561000	0.74099|0.74099	GGT|TGG	-	NULL		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	G	NM_020797	-		123150375	1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	C	C	123150375	G	C	123150375	3	2	109	1	0	0	0	0	1	0	0	0	8210	1348	47	4	3112	4	KIAA1109	4	123150375	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	114541235	123150375	68003901	21	7213											
TERT	7015	genome.wustl.edu	37	chr5	1279444	1279444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggcgggtcctgggcccGcacacgcagcacgaaggtgc	17	14	0	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:1279444G>A	ENST00000310581.5	-	5	2149	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	TERT_ENST00000508104.2_Missense_Mutation_p.R698W|TERT_ENST00000334602.6_Missense_Mutation_p.R698W|TERT_ENST00000296820.5_Missense_Mutation_p.R698W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	698	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCCTGGGCCCGCACACGCAGC	0.706									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0								ENSG00000164362						8	10	9					5																	1279444		2166	4258	6424	TERT	SO:0001583	missense	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	-	HGNC	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2092C>T	5.37:g.1279444G>A	ENSP00000309572:p.Arg698Trp	Somatic	0	75	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	84	25.66	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP							pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.R698W	ENST00000310581.5	37	c.2092	CCDS3861.2	5	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111362	0.37242	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97089	-4.24;-4.22;-4.16;-4.22	4.67	2.77	0.32553	Reverse transcriptase (1);	0.844839	0.10230	N	0.699742	D	0.97895	0.9308	M	0.70275	2.135	0.29857	N	0.827975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.991;0.958	D	0.93144	0.6544	10	0.87932	D	0	-9.6631	9.8893	0.41281	0.0:0.0:0.6324:0.3676	.	698;698;698	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	W	698	ENSP00000309572:R698W;ENSP00000296820:R698W;ENSP00000334346:R698W;ENSP00000426042:R698W	ENSP00000296820:R698W	R	-	1	2	TERT	1332444	0.002000	0.14202	0.977000	0.42913	0.085000	0.17905	0.777000	0.26718	0.945000	0.37605	0.313000	0.20887	CGG	-	pfscan_RVT		0.706	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	protein_coding	OTTHUMT00000206729.2	G		-		1279444	-1	no_errors	ENST00000310581	ensembl	human	known	74_37	missense	SNP	0.757	A	A	1279444	G	A	1279444	3	1	109	1	0	0	0	0	1	0	0	0	15771	1086	38	1	1354	1	TERT	5	1279444	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		1279444	179635816	22	7214											
SEMA5A	9037	genome.wustl.edu	37	chr5	9063189	9063189	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accgtgtgggcagagtatctCccagcacgcaggaaatcccc	11	14	1	1	rs142331748		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:9063189C>A	ENST00000382496.5	-	18	2993	c.2328G>T	c.(2326-2328)ggG>ggT	p.G776G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	776					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGAGTATCTCCCAGCACGCA	0.557																																																	0								ENSG00000112902	C		1,4405	2.1+/-5.4	0,1,2202	46	41	42		2328	-5.8	0	5	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	SEMA5A	NM_003966.2		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		776/1075	9063189	1,13005	2203	4300	6503	SEMA5A	SO:0001819	synonymous_variant	0			-	HGNC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2328G>T	5.37:g.9063189C>A		Somatic	0	27	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	D3DTC6|O60408|Q1RLL9	Silent	SNP							pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.G776	ENST00000382496.5	37	c.2328	CCDS3875.1	5																																																																																			-	NULL		0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	protein_coding	OTTHUMT00000206989.2	C		rs142331748		9063189	-1	no_errors	ENST00000382496	ensembl	human	known	74_37	silent	SNP	0.014	A	A	9063189	C	A	9063189	2	1	109	1	0	0	0	0	0	0	0	1	14045	842	30	3		3	SEMA5A	5	9063189	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	7783745	9063189	171852071	23	7215											
PDZD2	23037	genome.wustl.edu	37	chr5	32074487	32074487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattggaatacacagtccGtacagacacccagagtccga	8	12	0	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:32074487G>A	ENST00000438447.1	+	18	3663	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1092H			O15018	PDZD2_HUMAN	PDZ domain containing 2	1092					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TACACAGTCCGTACAGACACC	0.597																																																	0								ENSG00000133401						107	120	115					5																	32074487		2203	4300	6503	PDZD2	SO:0001583	missense	0			-	HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3275G>A	5.37:g.32074487G>A	ENSP00000402033:p.Arg1092His	Somatic	0	67	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q9BXD4	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1092H	ENST00000438447.1	37	c.3275	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782932	0.31502	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05786	3.39;3.39	5.67	-8.89	0.00785	.	2.946450	0.01064	N	0.004689	T	0.01523	0.0049	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43360	-0.9396	10	0.13853	T	0.58	.	1.4019	0.02273	0.286:0.2412:0.3336:0.1392	.	918;1092	B4E3P2;O15018	.;PDZD2_HUMAN	H	1092;894;1092	ENSP00000402033:R1092H;ENSP00000282493:R1092H	ENSP00000282493:R1092H	R	+	2	0	PDZD2	32110244	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.137000	0.10389	-1.706000	0.01404	-0.360000	0.07572	CGT	-	NULL		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	G		-		32074487	1	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	SNP	0.000	A	A	32074487	G	A	32074487	3	1	109	1	0	0	0	0	1	0	0	0	11703	1145	40	1	3341	1	PDZD2	5	32074487	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	23011298	32074487	148840773	24	7216											
ELL2	22936	genome.wustl.edu	37	chr5	95236448	95236448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catacaggagattctgaacgGctggtgcctgcagcattctg	12	10	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:95236448G>T	ENST00000237853.4	-	7	1252	c.903C>A	c.(901-903)agC>agA	p.S301R	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	301					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATTCTGAACGGCTGGTGCCTG	0.388																																																	0								ENSG00000118985						70	70	70					5																	95236448		2203	4300	6503	ELL2	SO:0001583	missense	0			-	HGNC	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.903C>A	5.37:g.95236448G>T	ENSP00000237853:p.Ser301Arg	Somatic	0	35	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B4DNK7	Missense_Mutation	SNP							pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S301R	ENST00000237853.4	37	c.903	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277179	0.23307	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.32753	1.73;1.44	5.7	4.83	0.62350	.	0.187965	0.64402	D	0.000002	T	0.26991	0.0661	L	0.51422	1.61	0.80722	D	1	P	0.38195	0.622	B	0.38803	0.282	T	0.04386	-1.0955	10	0.51188	T	0.08	.	6.8086	0.23792	0.1883:0.0:0.8117:0.0	.	301	O00472	ELL2_HUMAN	R	301;119	ENSP00000237853:S301R;ENSP00000423915:S119R	ENSP00000237853:S301R	S	-	3	2	ELL2	95262204	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.659000	0.37387	2.682000	0.91365	0.561000	0.74099	AGC	-	NULL		0.388	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	protein_coding	OTTHUMT00000242846.1	G	NM_012081	-		95236448	-1	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95236448	G	T	95236448	3	4	109	1	0	0	0	0	1	0	0	0	5065	1194	42	3	1043	3	ELL2	5	95236448	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	63161961	95236448	85678812	25	7217											
CHD1	1105	genome.wustl.edu	37	chr5	98236658	98236658	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcctccttatagctaacaTtaacagttgcttggcgacga	7	11	0	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:98236658T>A	ENST00000284049.3	-	6	865	c.716A>T	c.(715-717)aAt>aTt	p.N239I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	239					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATAGCTAACATTAACAGTTGC	0.383																																																	0								ENSG00000153922						160	156	157					5																	98236658		2203	4300	6503	CHD1	SO:0001583	missense	0			-	HGNC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.716A>T	5.37:g.98236658T>A	ENSP00000284049:p.Asn239Ile	Somatic	0	39	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	Q17RZ3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N239I	ENST00000284049.3	37	c.716	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478494	0.84747	.	.	ENSG00000153922	ENST00000284049	D	0.90197	-2.63	5.51	5.51	0.81932	.	0.000000	0.35677	U	0.003051	D	0.93559	0.7944	M	0.76002	2.32	0.80722	D	1	D	0.58268	0.982	P	0.55455	0.776	D	0.93765	0.7070	10	0.52906	T	0.07	.	15.9157	0.79517	0.0:0.0:0.0:1.0	.	239	O14646	CHD1_HUMAN	I	239	ENSP00000284049:N239I	ENSP00000284049:N239I	N	-	2	0	CHD1	98264558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.546000	0.82137	2.218000	0.71995	0.377000	0.23210	AAT	-	NULL		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	protein_coding	OTTHUMT00000370295.1	T	NM_001270	-		98236658	-1	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98236658	T	A	98236658	3	1	109	1	0	0	0	0	1	0	0	0	3325	1493	52	5	4536	5	CHD1	5	98236658	Missense_Mutation	SNP	T	TCGA-DX-A8BX-01A-11D-A37C-09	3000210	98236658	82678602	26	7218											
PCDHA8	56140	genome.wustl.edu	37	chr5	140222280	140222280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggcgttcgcgcagccCgagtacacggtgttcgtgaa	14	13	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:140222280C>T	ENST00000531613.1	+	1	1374	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P458P	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	458	Cadherin 5. {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)			TCGCGCAGCCCGAGTACACGG	0.672																																																	0								ENSG00000204962						56	57	57					5																	140222280		2194	4267	6461	PCDHA8	SO:0001819	synonymous_variant	0			-	HGNC	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.1374C>T	5.37:g.140222280C>T		Somatic	0	103	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	136	19.41	B9EGT7|O75281	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P458	ENST00000531613.1	37	c.1374	CCDS54919.1	5																																																																																			-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	C	NM_018911	-		140222280	1	no_errors	ENST00000531613	ensembl	human	known	74_37	silent	SNP	0.001	T	T	140222280	C	T	140222280	2	4	109	1	0	0	0	0	0	0	0	1	11532	639	23	1		1	PCDHA8	5	140222280	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	41985622	140222280	40692980	27	7219											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140718933	140718933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattaacgataatgcccctcGctttggagtagaggaactgg	11	8	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:140718933G>T	ENST00000394576.2	+	1	395	c.395G>T	c.(394-396)cGc>cTc	p.R132L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	132	Cadherin 1. {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(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)			AATGCCCCTCGCTTTGGAGTA	0.428																																																	0								ENSG00000081853						70	71	70					5																	140718933		2203	4300	6503	PCDHGA2	SO:0001583	missense	0			-	HGNC	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.395G>T	5.37:g.140718933G>T	ENSP00000378077:p.Arg132Leu	Somatic	0	31	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q52LL6|Q9Y5D5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R132L	ENST00000394576.2	37	c.395	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	8.208	0.799631	0.16397	.	.	ENSG00000081853	ENST00000394576	T	0.19532	2.14	5.26	4.4	0.53042	Cadherin (2);Cadherin-like (1);	0.171454	0.27826	U	0.017699	T	0.22437	0.0541	M	0.63428	1.95	0.22710	N	0.99883	B;B	0.23854	0.092;0.057	B;B	0.33690	0.168;0.017	T	0.22452	-1.0216	10	0.20046	T	0.44	.	6.9587	0.24585	0.155:0.1443:0.7007:0.0	.	132;132	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	132	ENSP00000378077:R132L	ENSP00000378077:R132L	R	+	2	0	PCDHGA2	140699117	0.000000	0.05858	1.000000	0.80357	0.809000	0.45718	-0.630000	0.05502	1.365000	0.46057	-0.140000	0.14226	CGC	-	superfamily_Cadherin-like,pfscan_Cadherin		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	G	NM_018915	-		140718933	1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	SNP	0.987	T	T	140718933	G	T	140718933	3	4	109	1	0	0	0	0	1	0	0	0	11556	1087	38	3	397	3	PCDHGA2	5	140718933	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	496653	140718933	40196327	28	7220											
IL17B	27190	genome.wustl.edu	37	chr5	148753976	148753976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatggtctccatgactgCgcgctggcggcaaggccctg	15	13	1	1	rs528081511		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr5:148753976C>T	ENST00000261796.3	-	3	549	c.499G>A	c.(499-501)Gca>Aca	p.A167T	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	167					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATGACTGCGCGCTGGCGG	0.677													C|||	1	0.000199681	0	0.0014	5008	,	,		15617	0		0	False		,,,				2504	0																0								ENSG00000127743						28	30	29					5																	148753976		2199	4291	6490	IL17B	SO:0001583	missense	0			-	HGNC	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"Interleukins and interleukin receptors"	5982	protein-coding gene	gene with protein product	"neuronal interleukin-17-related factor"	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.499G>A	5.37:g.148753976C>T	ENSP00000261796:p.Ala167Thr	Somatic	0	28	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	Q14CE5	Missense_Mutation	SNP							pfam_IL-17_fam,prints_IL-17_chr	p.A167T	ENST00000261796.3	37	c.499	CCDS4297.1	5	.	.	.	.	.	.	.	.	.	.	C	3.164	-0.171532	0.06421	.	.	ENSG00000127743	ENST00000261796	T	0.54866	0.55	5.2	-0.66	0.11421	.	0.559855	0.17855	N	0.159740	T	0.22244	0.0536	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20207	-1.0282	10	0.11485	T	0.65	-23.0732	5.8117	0.18469	0.0:0.3046:0.3798:0.3156	.	167	Q9UHF5	IL17B_HUMAN	T	167	ENSP00000261796:A167T	ENSP00000261796:A167T	A	-	1	0	IL17B	148734169	0.000000	0.05858	0.049000	0.19019	0.037000	0.13140	0.288000	0.18939	0.205000	0.20568	-0.305000	0.09177	GCA	-	pfam_IL-17_fam,prints_IL-17_chr		0.677	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17B	protein_coding	OTTHUMT00000252330.1	C	NM_014443	-		148753976	-1	no_errors	ENST00000261796	ensembl	human	known	74_37	missense	SNP	0.002	T	T	148753976	C	T	148753976	3	4	109	1	0	0	0	0	1	0	0	0	7637	768	27	1	47	1	IL17B	5	148753976	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	8035043	148753976	32161284	29	7221											
HIST1H3E	8353	genome.wustl.edu	37	chr6	26225736	26225736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctattcatgccaaacgcgtGaccatcatgcctaaagacat	7	12	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr6:26225736G>A	ENST00000360408.1	+	1	354	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	118					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)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CCAAACGCGTGACCATCATGC	0.552											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000196966						97	97	97					6																	26225736		2203	4300	6503	HIST1H3E	SO:0001819	synonymous_variant	0			-	HGNC	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.354G>A	6.37:g.26225736G>A		Somatic	0	91	0	785	0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	60	21.05	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.V118	ENST00000360408.1	37	c.354	CCDS4596.1	6																																																																																			-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.552	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3E	protein_coding	OTTHUMT00000040097.1	G	NM_003532	-		26225736	1	no_errors	ENST00000360408	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26225736	G	A	26225736	2	1	109	1	0	0	0	0	0	0	0	1	7161	1277	45	2		2	HIST1H3E	6	26225736	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		26225736	144889331	30	7222											
DST	667	genome.wustl.edu	37	chr6	56489356	56489356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcctcttcaatgaaTcaccagcaaatttaatatat	3	11	3	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr6:56489356T>G	ENST00000361203.3	-	32	4275	c.4268A>C	c.(4267-4269)gAt>gCt	p.D1423A	DST_ENST00000370765.6_Missense_Mutation_p.D1097A|DST_ENST00000421834.2_Missense_Mutation_p.D1423A|DST_ENST00000370788.2_Missense_Mutation_p.D1423A|DST_ENST00000518935.1_Missense_Mutation_p.D1097A|DST_ENST00000446842.2_Missense_Mutation_p.D1097A|DST_ENST00000370754.5_Missense_Mutation_p.D1601A|DST_ENST00000244364.6_Missense_Mutation_p.D1097A|DST_ENST00000370769.4_Missense_Mutation_p.D1423A|DST_ENST00000312431.6_Missense_Mutation_p.D1423A			Q03001	DYST_HUMAN	dystonin	1423					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)			CTTCAATGAATCACCAGCAAA	0.393																																																	0								ENSG00000151914						82	77	79					6																	56489356		2203	4300	6503	DST	SO:0001583	missense	0			-	HGNC	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.4268A>C	6.37:g.56489356T>G	ENSP00000354508:p.Asp1423Ala	Somatic	0	32	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	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							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.D1601A	ENST00000361203.3	37	c.4802		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.16|18.16	3.562977|3.562977	0.65538|0.65538	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935|ENST00000522360	T;T;T;T;T;T;T;T;T;T;T;T|.	0.26957|.	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.56097|.	D|.	0.000028|.	T|T	0.52980|0.52980	0.1768|0.1768	L|L	0.52126|0.52126	1.63|1.63	0.19300|.	N|.	0.999977|.	P;D;D;P;D;D;P;D|.	0.89917|.	0.734;0.983;0.979;0.672;0.992;0.999;0.734;1.0|.	B;P;P;B;D;D;B;D|.	0.78314|.	0.196;0.68;0.549;0.217;0.915;0.991;0.196;0.981|.	T|T	0.54918|0.54918	-0.8221|-0.8221	9|4	0.52906|.	T|.	0.07|.	.|.	15.1167|15.1167	0.72407|0.72407	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1423;1423;1601;1097;1097;1097;1423;1097|.	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8|.	.;.;.;.;.;.;DYST_HUMAN;.|.	A|L	1097;1601;1423;1423;1097;1423;1423;1423;1097;1463;1097;1097|95	ENSP00000244364:D1097A;ENSP00000359790:D1601A;ENSP00000359805:D1423A;ENSP00000400883:D1423A;ENSP00000393645:D1097A;ENSP00000307959:D1423A;ENSP00000359824:D1423A;ENSP00000354508:D1423A;ENSP00000404924:D1097A;ENSP00000431030:D1463A;ENSP00000359801:D1097A;ENSP00000431003:D1097A|.	ENSP00000244364:D1097A|.	D|I	-|-	2|1	0|0	DST|DST	56597315|56597315	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.995000|0.995000	0.86356|0.86356	7.997000|7.997000	0.88414|0.88414	2.222000|2.222000	0.72286|0.72286	0.528000|0.528000	0.53228|0.53228	GAT|ATT	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	T	NM_001723	-		56489356	-1	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56489356	T	G	56489356	3	3	109	1	0	0	0	0	1	0	0	0	4785	1435	50	5	17117	5	DST	6	56489356	Missense_Mutation	SNP	T	TCGA-DX-A8BX-01A-11D-A37C-09	30263620	56489356	114625711	31	7223											
FERD3L	222894	genome.wustl.edu	37	chr7	19184676	19184676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcggatgttggcggcctGgcgctgggcgtaggtgatca	18	9	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:19184676G>A	ENST00000275461.3	-	1	368	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTGGCGGCCTGGCGCTGGGCG	0.602																																																	0								ENSG00000146618						83	71	75					7																	19184676		2203	4300	6503	FERD3L	SO:0001587	stop_gained	0			-	HGNC	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.310C>T	7.37:g.19184676G>A	ENSP00000275461:p.Gln104*	Somatic	0	32	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	Q495K0	Nonsense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q104*	ENST00000275461.3	37	c.310	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.390681	0.95988	.	.	ENSG00000146618	ENST00000275461	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-2.4945	19.751	0.96268	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000275461:Q104X	Q	-	1	0	FERD3L	19151201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.529000	0.73812	2.693000	0.91896	0.650000	0.86243	CAG	-	pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom		0.602	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	protein_coding	OTTHUMT00000207627.1	G		-		19184676	-1	no_errors	ENST00000275461	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	19184676	G	A	19184676	4	1	109	1	0	0	0	0	0	1	0	0	5818	1357	47	2	194	2	FERD3L	7	19184676	Nonsense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		19184676	139953987	32	7224											
CCM2	83605	genome.wustl.edu	37	chr7	45067387	45067387	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcacacagggtattccatGgagaatgaggtaggtgcaag	13	6	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:45067387G>T	ENST00000258781.6	+	2	179				CCM2_ENST00000474617.1_Start_Codon_SNP_p.M1I|CCM2_ENST00000475551.1_Start_Codon_SNP_p.M1I|CCM2_ENST00000461377.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.M28I|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000541586.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGTATTCCATGGAGAATGAGG	0.478																																																	0								ENSG00000136280						60	63	62					7																	45067387		2203	4300	6503	CCM2	SO:0001627	intron_variant	0			-	HGNC	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.31-10465G>T	7.37:g.45067387G>T		Somatic	0	30	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP							pfscan_PTB/PI_dom	p.M28I	ENST00000258781.6	37	c.84	CCDS5500.1	7	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615484	0.46631	.	.	ENSG00000136280	ENST00000475551;ENST00000381112;ENST00000474617	T;T;T	0.39997	1.06;1.05;2.06	4.3	3.42	0.39159	.	1.213410	0.05985	N	0.644969	T	0.26702	0.0653	N	0.08118	0	0.27108	N	0.962443	B;B;B	0.34161	0.103;0.439;0.034	B;B;B	0.32762	0.04;0.152;0.015	T	0.27673	-1.0067	10	0.66056	D	0.02	-1.5084	9.3715	0.38256	0.101:0.0:0.899:0.0	.	28;28;28	B7Z5A6;B7Z8D5;E9PDJ3	.;.;.	I	1;28;1	ENSP00000417180:M1I;ENSP00000370503:M28I;ENSP00000419474:M1I	ENSP00000370503:M28I	M	+	3	0	CCM2	45033912	1.000000	0.71417	0.966000	0.40874	0.985000	0.73830	2.269000	0.43346	1.161000	0.42604	0.650000	0.86243	ATG	-	NULL		0.478	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	protein_coding	OTTHUMT00000251348.1	G	NM_031443	-		45067387	1	no_errors	ENST00000381112	ensembl	human	known	74_37	missense	SNP	0.996	T	T	45067387	G	T	45067387	1	4	109	0	1	0	0	0	0	0	0	0	2910	1348	47	3		3	CCM2	7	45067387	Intron	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	25882711	45067387	114071276	33	7225											
HIP1	3092	genome.wustl.edu	37	chr7	75228536	75228536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttacagccacttcctgCgtattaatggccttattgat	6	11	0	1	rs372317584		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:75228536C>T	ENST00000336926.6	-	2	176	c.150G>A	c.(148-150)acG>acA	p.T50T	HIP1_ENST00000434438.2_Silent_p.T50T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	50	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACTTCCTGCGTATTAATGG	0.498			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0								ENSG00000127946	C		0,4406		0,0,2203	148	150	149		150	-5	0.9	7		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIP1	NM_005338.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		50/1038	75228536	1,13005	2203	4300	6503	HIP1	SO:0001819	synonymous_variant	0			-	HGNC	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.150G>A	7.37:g.75228536C>T		Somatic	0	43	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP							pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.T50	ENST00000336926.6	37	c.150	CCDS34669.1	7																																																																																			-	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N		0.498	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	protein_coding	OTTHUMT00000342863.2	C	NM_005338	-		75228536	-1	no_errors	ENST00000336926	ensembl	human	known	74_37	silent	SNP	0.695	T	T	75228536	C	T	75228536	2	4	109	1	0	0	0	0	0	0	0	1	7116	755	27	1		1	HIP1	7	75228536	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	30161149	75228536	83910127	34	7226											
PCLO	27445	genome.wustl.edu	37	chr7	82544714	82544714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttgacattttagggtcAattagtgatttcttatgctt	7	4	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:82544714A>G	ENST00000333891.9	-	7	12925	c.12588T>C	c.(12586-12588)atT>atC	p.I4196I	PCLO_ENST00000423517.2_Silent_p.I4196I|PCLO_ENST00000437081.1_Silent_p.I916I	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						TTTTAGGGTCAATTAGTGATT	0.363																																																	0								ENSG00000186472						82	73	76					7																	82544714		1870	4101	5971	PCLO	SO:0001819	synonymous_variant	0			-	HGNC	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.12588T>C	7.37:g.82544714A>G		Somatic	0	46	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96		Silent	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.I4196	ENST00000333891.9	37	c.12588	CCDS47630.1	7																																																																																			-	NULL		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	A	NM_014510	-		82544714	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	SNP	1.000	G	G	82544714	A	G	82544714	2	3	109	1	0	0	0	0	0	0	0	1	11585	126	5	5		5	PCLO	7	82544714	Silent	SNP	A	TCGA-DX-A8BX-01A-11D-A37C-09	7316178	82544714	76593949	35	7227											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95625320	95625320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgctccccatgaaccagatGgagtggccttggtttggaac	12	10	0	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:95625320G>C	ENST00000324972.6	+	10	1148	c.955G>C	c.(955-957)Gga>Cga	p.G319R	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G282R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G282R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G302R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G299R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G302R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	319					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGAACCAGATGGAGTGGCCTT	0.428																																																	0								ENSG00000158560						226	201	210					7																	95625320		2203	4300	6503	DYNC1I1	SO:0001583	missense	0			-	HGNC	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.955G>C	7.37:g.95625320G>C	ENSP00000320130:p.Gly319Arg	Somatic	0	88	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	53	41.11	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP							pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G319R	ENST00000324972.6	37	c.955	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377713	0.82682	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054422	0.64402	D	0.000001	T	0.45836	0.1362	M	0.93720	3.45	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	0.60037	-0.7341	10	0.87932	D	0	-1.2247	18.6224	0.91326	0.0:0.0:1.0:0.0	.	302;299;302;319;282	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	302;319;282;299;282;302	ENSP00000392337:G302R;ENSP00000320130:G319R;ENSP00000438377:G282R;ENSP00000398118:G299R;ENSP00000352348:G282R;ENSP00000412444:G302R	ENSP00000320130:G319R	G	+	1	0	DYNC1I1	95463256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.717000	0.92951	0.655000	0.94253	GGA	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.428	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	protein_coding	OTTHUMT00000333432.1	G	NM_004411	-		95625320	1	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	SNP	1.000	C	C	95625320	G	C	95625320	3	2	109	1	0	0	0	0	1	0	0	0	4844	1349	47	4	989	4	DYNC1I1	7	95625320	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	13080606	95625320	63513343	36	7228											
ARMC10	83787	genome.wustl.edu	37	chr7	102738973	102738973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagaggtgaaggaaaaGgttgtaacaataatacccaa	11	5	0	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:102738973G>T	ENST00000323716.3	+	7	1397	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N	ARMC10_ENST00000425331.1_Missense_Mutation_p.K276N|ARMC10_ENST00000441711.2_Missense_Mutation_p.K300N|ARMC10_ENST00000454559.1_Missense_Mutation_p.K241N|ARMC10_ENST00000541300.1_Missense_Mutation_p.K217N|ARMC10_ENST00000428183.2_Missense_Mutation_p.K276N	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	335					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGAAGGAAAAGGTTGTAACAA	0.363																																																	0								ENSG00000170632						47	49	48					7																	102738973		2195	4272	6467	ARMC10	SO:0001583	missense	0			-	HGNC	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.1005G>T	7.37:g.102738973G>T	ENSP00000319412:p.Lys335Asn	Somatic	0	127	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	69	15.85	A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP							pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.K335N	ENST00000323716.3	37	c.1005	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501148	0.64298	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000431642	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.49;1.49;1.49	5.68	2.56	0.30785	Armadillo-type fold (1);	0.096550	0.64402	D	0.000001	T	0.53769	0.1817	M	0.75264	2.295	0.22940	N	0.998537	D;D;D;D;D;D	0.89917	0.998;0.996;0.997;1.0;1.0;0.999	D;D;P;D;D;D	0.87578	0.982;0.99;0.892;0.998;0.983;0.984	T	0.42932	-0.9422	10	0.87932	D	0	-31.9836	6.2663	0.20928	0.6404:0.0:0.3596:0.0	.	276;217;241;276;300;335	B4DWJ8;F5GX65;Q8N2F6-4;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;ARM10_HUMAN	N	335;276;300;241;276;217;177	ENSP00000319412:K335N;ENSP00000396654:K276N;ENSP00000413619:K300N;ENSP00000405612:K241N;ENSP00000397969:K276N;ENSP00000440463:K217N;ENSP00000406840:K177N	ENSP00000319412:K335N	K	+	3	2	ARMC10	102526209	1.000000	0.71417	0.968000	0.41197	0.900000	0.52787	2.355000	0.44107	0.346000	0.23899	0.591000	0.81541	AAG	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.363	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	protein_coding	OTTHUMT00000347882.1	G	NM_031905	-		102738973	1	no_errors	ENST00000323716	ensembl	human	known	74_37	missense	SNP	0.996	T	T	102738973	G	T	102738973	3	4	109	1	0	0	0	0	1	0	0	0	950	991	35	3	1031	3	ARMC10	7	102738973	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	7113653	102738973	56399690	37	7229											
ZNF398	57541	genome.wustl.edu	37	chr7	148851394	148851394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaggaacttctggatcCtgcggctccctccaggtatt	10	13	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:148851394C>T	ENST00000475153.1	+	2	649	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Silent_p.L133L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	128					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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTTCTGGATCCTGCGGCTCCC	0.517																																																	0								ENSG00000197024						50	53	52					7																	148851394		2203	4300	6503	ZNF398	SO:0001819	synonymous_variant	0			-	HGNC	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.382C>T	7.37:g.148851394C>T		Somatic	0	87	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L133	ENST00000475153.1	37	c.397	CCDS5894.1	7																																																																																			-	NULL		0.517	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	protein_coding	OTTHUMT00000352722.2	C		-		148851394	1	no_errors	ENST00000540950	ensembl	human	known	74_37	silent	SNP	1.000	T	T	148851394	C	T	148851394	2	4	109	1	0	0	0	0	0	0	0	1	17892	680	24	2		2	ZNF398	7	148851394	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	46112421	148851394	10287269	38	7230											
SSPO	23145	genome.wustl.edu	37	chr7	149509072	149509072	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgcccggtgccatcgGcaccggttctgtgccaggtc	14	16	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr7:149509072G>A	ENST00000378016.2	+	0	9618							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCCATCGGCACCGGTTCT	0.697																																																	0								ENSG00000197558						27	32	31					7																	149509072		1998	4153	6151	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509072G>A		Somatic	0	32	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.697	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		G		-		149509072	1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	SNP	0.998	A	A	149509072	G	A	149509072	1	1	109	0	1	0	0	0	0	0	0	0	15196	1190	42	2		2	SSPO	7	149509072	RNA	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	657678	149509072	9629591	39	7231											
CSMD1	64478	genome.wustl.edu	37	chr8	3265506	3265506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgcccactgctggccagCtgggaaggcacttcattgcc	11	13	1	0	rs559348370		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr8:3265506C>A	ENST00000520002.1	-	15	2544	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q662H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q662H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q662H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q663H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q663H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q663H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	663	CUB 4. {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)		TGCTGGCCAGCTGGGAAGGCA	0.483																																																	0								ENSG00000183117						77	71	73					8																	3265506		1945	4149	6094	CSMD1	SO:0001583	missense	0			-	HGNC			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.1989G>T	8.37:g.3265506C>A	ENSP00000430733:p.Gln663His	Somatic	0	30	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q663H	ENST00000520002.1	37	c.1989		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.915|1.915	-0.449748|-0.449748	0.04572|0.04572	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.18657	.|2.2;2.2;2.2;2.2;2.2	5.23|5.23	2.42|2.42	0.29668|0.29668	.|CUB (5);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.16811|0.16811	0.0404|0.0404	N|N	0.04203|0.04203	-0.255|-0.255	0.34904|0.34904	D|D	0.746789|0.746789	.|D;B	.|0.67145	.|0.996;0.022	.|D;B	.|0.85130	.|0.997;0.036	T|T	0.29274|0.29274	-1.0017|-1.0017	5|10	.|0.14656	.|T	.|0.56	.|.	5.3656|5.3656	0.16111|0.16111	0.1359:0.5768:0.0:0.2873|0.1359:0.5768:0.0:0.2873	.|.	.|663;663	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	S|H	143|663;663;525;662;662;662	.|ENSP00000383047:Q663H;ENSP00000430733:Q663H;ENSP00000441462:Q662H;ENSP00000446243:Q662H;ENSP00000441675:Q662H	.|ENSP00000320445:Q525H	A|Q	-|-	1|3	0|2	CSMD1|CSMD1	3252913|3252913	0.044000|0.044000	0.20184|0.20184	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	-0.338000|-0.338000	0.07842|0.07842	0.584000|0.584000	0.29591|0.29591	-0.444000|-0.444000	0.05651|0.05651	GCT|CAG	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		3265506	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.991	A	A	3265506	C	A	3265506	3	1	109	1	0	0	0	0	1	0	0	0	3946	796	28	3	8936	3	CSMD1	8	3265506	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		3265506	143098516	40	7232											
CHMP7	91782	genome.wustl.edu	37	chr8	23115855	23115855	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctccaggcactgaggtctCtcaaggccaagcaacggaca	11	14	2	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr8:23115855C>G	ENST00000397677.1	+	7	1501	c.853C>G	c.(853-855)Ctc>Gtc	p.L285V	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.L285V	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	285					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACTGAGGTCTCTCAAGGCCAA	0.577																																																	0								ENSG00000147457						166	141	150					8																	23115855		2203	4300	6503	CHMP7	SO:0001583	missense	0			-	HGNC	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.853C>G	8.37:g.23115855C>G	ENSP00000380794:p.Leu285Val	Somatic	0	23	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP							pfam_Snf7	p.L285V	ENST00000397677.1	37	c.853	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063444	0.76187	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	D;D	0.83075	-1.68;-1.68	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	M	0.82323	2.585	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.91885	0.5519	10	0.59425	D	0.04	-10.7227	16.9982	0.86373	0.0:1.0:0.0:0.0	.	175;285	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	V	285	ENSP00000380794:L285V;ENSP00000324491:L285V	ENSP00000324491:L285V	L	+	1	0	CHMP7	23171800	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.388000	0.34442	2.801000	0.96364	0.655000	0.94253	CTC	-	pfam_Snf7		0.577	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	protein_coding	OTTHUMT00000254717.1	C	NM_152272	-		23115855	1	no_errors	ENST00000313219	ensembl	human	known	74_37	missense	SNP	1.000	G	G	23115855	C	G	23115855	3	3	109	1	0	0	0	0	1	0	0	0	3363	913	32	4	875	4	CHMP7	8	23115855	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	19850349	23115855	123248167	41	7233											
HOOK3	84376	genome.wustl.edu	37	chr8	42873625	42873625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacccaggccacgtgcagcCggccacagcaaggtagagaa	12	13	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr8:42873625C>T	ENST00000307602.4	+	22	2341	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.P20L	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	714	Required for association with Golgi.|Required for interaction with MSR1.				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)			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)			CACGTGCAGCCGGCCACAGCA	0.542			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0								ENSG00000168172						73	69	71					8																	42873625		2203	4300	6503	HOOK3	SO:0001583	missense	0			-	HGNC	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.2141C>T	8.37:g.42873625C>T	ENSP00000305699:p.Pro714Leu	Somatic	0	43	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP							pfam_Hook-related_fam,superfamily_t-SNARE	p.P714L	ENST00000307602.4	37	c.2141	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	C	9.589	1.125731	0.20959	.	.	ENSG00000168172;ENSG00000254673	ENST00000307602;ENST00000534420	T	0.17054	2.3	5.96	5.96	0.96718	.	0.094893	0.85682	D	0.000000	T	0.21062	0.0507	L	0.52573	1.65	0.80722	D	1	P	0.35612	0.512	B	0.32090	0.14	T	0.01301	-1.1391	10	0.72032	D	0.01	-9.5408	20.422	0.99049	0.0:1.0:0.0:0.0	.	714	Q86VS8	HOOK3_HUMAN	L	714;20	ENSP00000305699:P714L	ENSP00000305699:P714L	P	+	2	0	RP11-598P20.5;HOOK3	42992782	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.618000	0.67722	2.832000	0.97577	0.655000	0.94253	CCG	-	pfam_Hook-related_fam		0.542	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	protein_coding	OTTHUMT00000383172.2	C	NM_032410	-		42873625	1	no_errors	ENST00000307602	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42873625	C	T	42873625	3	4	109	1	0	0	0	0	1	0	0	0	7286	652	23	1	2227	1	HOOK3	8	42873625	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	19757770	42873625	103490397	42	7234											
FAM164A	51101	genome.wustl.edu	37	chr8	79609735	79609735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtggcgctggcaaaactGttgtaggtaatgatagccga	13	7	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr8:79609735G>T	ENST00000263849.4	+	6	700	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	200							metal ion binding (GO:0046872)										TGGCAAAACTGTTGTAGGTAA	0.398																																																	0								ENSG00000104427						59	57	58					8																	79609735		2203	4300	6503	ZC2HC1A	SO:0001583	missense	0			-	HGNC		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.598G>T	8.37:g.79609735G>T	ENSP00000263849:p.Val200Phe	Somatic	0	76	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	85	11.46	Q9Y372	Missense_Mutation	SNP							NULL	p.V200F	ENST00000263849.4	37	c.598	CCDS6223.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.55|10.55	1.380638|1.380638	0.24944|0.24944	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000519307|ENST00000263849	.|T	.|0.46819	.|0.86	5.48|5.48	3.66|3.66	0.41972|0.41972	.|.	.|0.538192	.|0.21184	.|N	.|0.078767	T|T	0.26955|0.26955	0.0660|0.0660	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P	.|0.35923	.|0.528	.|B	.|0.26864	.|0.074	T|T	0.03957|0.03957	-1.0989|-1.0989	5|9	.|.	.|.	.|.	-8.6006|-8.6006	9.023|9.023	0.36211|0.36211	0.2287:0.0:0.7713:0.0|0.2287:0.0:0.7713:0.0	.|.	.|200	.|Q96GY0	.|F164A_HUMAN	F|F	32|200	.|ENSP00000263849:V200F	.|.	C|V	+|+	2|1	0|0	FAM164A|FAM164A	79772290|79772290	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.279000|0.279000	0.26890|0.26890	3.045000|3.045000	0.49838|0.49838	0.770000|0.770000	0.33336|0.33336	0.655000|0.655000	0.94253|0.94253	TGT|GTT	-	NULL		0.398	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	protein_coding	OTTHUMT00000379423.2	G	NM_016010	-		79609735	1	no_errors	ENST00000263849	ensembl	human	known	74_37	missense	SNP	0.868	T	T	79609735	G	T	79609735	3	4	109	1	0	0	0	0	1	0	0	0	5480	1377	48	3	620	3	FAM164A	8	79609735	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	36736110	79609735	66754287	43	7235											
PLEC	5339	genome.wustl.edu	37	chr8	144995433	144995433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgttggggtcaaagaaGcccttggtgtcgtcgctggg	17	8	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr8:144995433G>A	ENST00000322810.4	-	32	9136	c.8967C>T	c.(8965-8967)ggC>ggT	p.G2989G	PLEC_ENST00000357649.2_Silent_p.G2856G|PLEC_ENST00000356346.3_Silent_p.G2838G|PLEC_ENST00000354589.3_Silent_p.G2852G|PLEC_ENST00000345136.3_Silent_p.G2852G|PLEC_ENST00000398774.2_Silent_p.G2820G|PLEC_ENST00000436759.2_Silent_p.G2879G|PLEC_ENST00000527096.1_Silent_p.G2875G|PLEC_ENST00000354958.2_Silent_p.G2830G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2989	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						GGTCAAAGAAGCCCTTGGTGT	0.667																																																	0								ENSG00000178209						82	93	89					8																	144995433		2118	4240	6358	PLEC	SO:0001819	synonymous_variant	0			-	HGNC	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.8967C>T	8.37:g.144995433G>A		Somatic	0	60	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.67	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.G2989	ENST00000322810.4	37	c.8967	CCDS43772.1	8																																																																																			-	smart_Plectin_repeat		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	G	NM_000445	-		144995433	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	SNP	1.000	A	A	144995433	G	A	144995433	2	1	109	1	0	0	0	0	0	0	0	1	12054	958	34	2		2	PLEC	8	144995433	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	65385698	144995433	1368589	44	7236											
ZNF658	26149	genome.wustl.edu	37	chr9	40772275	40772275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttgggcaaaagctttTccgcattcattacactcata	6	9	2	0	rs1064200	byFrequency	TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr9:40772275T>C	ENST00000602553.1	-	5	3294	c.3000A>G	c.(2998-3000)ggA>ggG	p.G1000G	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.G1000G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1000					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAAAAGCTTTTCCGCATTCAT	0.423													C|||	1300	0.259585	0.4622	0.2305	5008	,	,		12108	0.2391		0.2048	False		,,,				2504	0.0838																0								ENSG00000196409						39	58	53					9																	40772275		1407	3690	5097	ZNF658	SO:0001819	synonymous_variant	0			-	HGNC	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.3000A>G	9.37:g.40772275T>C		Somatic	1	122	0.81		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G1000	ENST00000602553.1	37	c.3000	CCDS35023.1	9																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	protein_coding	OTTHUMT00000467800.1	T	NM_033160	rs139779674		40772275	-1	no_errors	ENST00000377626	ensembl	human	known	74_37	silent	SNP	0.979	C	C	40772275	T	C	40772275	2	2	109	1	0	0	0	0	0	0	0	1	18076	1770	62	5		5	ZNF658	9	40772275	Silent	SNP	T	TCGA-DX-A8BX-01A-11D-A37C-09		40772275	100441156	45	7237											
PRKACG	5568	genome.wustl.edu	37	chr9	71628289	71628289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggatgggctggtcggcGtagaagggtgggaagcccac	18	8	1	1	rs140133619		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr9:71628289G>A	ENST00000377276.2	-	1	750	c.720C>T	c.(718-720)taC>taT	p.Y240Y		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.Y240Y(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCTGGTCGGCGTAGAAGGGTG	0.602																																					Esophageal Squamous(110;2236 2623 32146)												1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						ENSG00000165059						70	68	68					9																	71628289		2203	4300	6503	PRKACG	SO:0001819	synonymous_variant	0			-	HGNC	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.720C>T	9.37:g.71628289G>A		Somatic	0	36	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	O60850|Q5VZ02|Q86YI1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y240	ENST00000377276.2	37	c.720	CCDS6625.1	9																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.602	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	protein_coding	OTTHUMT00000052559.1	G		-		71628289	-1	no_errors	ENST00000377276	ensembl	human	known	74_37	silent	SNP	0.998	A	A	71628289	G	A	71628289	2	1	109	1	0	0	0	0	0	0	0	1	12504	1140	40	1		1	PRKACG	9	71628289	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	30856014	71628289	69585142	46	7238											
TMEM2	23670	genome.wustl.edu	37	chr9	74360217	74360217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataggacccaaagggcaagcCtgaggaattcagggtccttg	13	9	1	1	rs139832017		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr9:74360217C>A	ENST00000377044.4	-	4	1290	c.751G>T	c.(751-753)Ggc>Tgc	p.G251C	TMEM2_ENST00000377066.5_Missense_Mutation_p.G251C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	251					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAGGGCAAGCCTGAGGAATTC	0.512																																																	0								ENSG00000135048	C	CYS/GLY,CYS/GLY	0,4406		0,0,2203	83	77	79		751,751	6	1	9	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	159,159	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	251/1321,251/1384	74360217	1,13005	2203	4300	6503	TMEM2	SO:0001583	missense	0			-	HGNC		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.751G>T	9.37:g.74360217C>A	ENSP00000366243:p.Gly251Cys	Somatic	0	46	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	21.82	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP							pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.G251C	ENST00000377044.4	37	c.751	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026866	0.75390	0.0	1.16E-4	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.79845	-1.31;-1.24	6.03	6.03	0.97812	.	0.044877	0.85682	D	0.000000	D	0.91459	0.7304	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91595	0.5290	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	251;251	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	C	251	ENSP00000366243:G251C;ENSP00000366266:G251C	ENSP00000366243:G251C	G	-	1	0	TMEM2	73550037	1.000000	0.71417	0.998000	0.56505	0.447000	0.32167	7.263000	0.78421	2.861000	0.98227	0.655000	0.94253	GGC	-	NULL		0.512	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	protein_coding	OTTHUMT00000052618.2	C	NM_013390	rs139832017		74360217	-1	no_errors	ENST00000377044	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74360217	C	A	74360217	3	1	109	1	0	0	0	0	1	0	0	0	16128	681	24	3	3484	3	TMEM2	9	74360217	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	2731928	74360217	66853214	47	7239											
WNK2	65268	genome.wustl.edu	37	chr9	96021357	96021357	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagccgtgatcttgccgagcCtcgctgccccactcccccct	8	21	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr9:96021357C>G	ENST00000297954.4	+	11	2527	c.2527C>G	c.(2527-2529)Ctc>Gtc	p.L843V	WNK2_ENST00000427277.2_Missense_Mutation_p.L455V|WNK2_ENST00000349097.3_Missense_Mutation_p.L455V|WNK2_ENST00000395475.2_Missense_Mutation_p.L777V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.L843V	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	843					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTTGCCGAGCCTCGCTGCCCC	0.701																																																	0								ENSG00000165238						26	32	30					9																	96021357		2203	4296	6499	WNK2	SO:0001583	missense	0			-	HGNC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2527C>G	9.37:g.96021357C>G	ENSP00000297954:p.Leu843Val	Somatic	0	167	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	178	23.61	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L843V	ENST00000297954.4	37	c.2527		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.78|11.78	1.739748|1.739748	0.30865|0.30865	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T;T|.	0.77620|.	-0.48;-0.49;-1.11;0.1;0.11|.	5.11|5.11	3.11|3.11	0.35812|0.35812	.|.	0.359359|.	0.26224|.	N|.	0.025618|.	T|T	0.36496|0.36496	0.0969|0.0969	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.24721|.	0.11;0.041;0.067;0.11;0.067|.	B;B;B;B;B|.	0.18871|.	0.016;0.016;0.023;0.016;0.012|.	T|T	0.21759|0.21759	-1.0236|-1.0236	10|5	0.26408|.	T|.	0.33|.	.|.	2.5745|2.5745	0.04803|0.04803	0.2426:0.4143:0.2483:0.0948|0.2426:0.4143:0.2483:0.0948	.|.	843;843;446;843;843|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	V|R	843;843;777;455;455|446	ENSP00000297954:L843V;ENSP00000378860:L843V;ENSP00000378858:L777V;ENSP00000297876:L455V;ENSP00000411181:L455V|.	ENSP00000297954:L843V|.	L|P	+|+	1|2	0|0	WNK2|WNK2	95061178|95061178	1.000000|1.000000	0.71417|0.71417	0.641000|0.641000	0.29422|0.29422	0.607000|0.607000	0.37147|0.37147	2.565000|2.565000	0.45939|0.45939	2.367000|2.367000	0.80283|0.80283	0.462000|0.462000	0.41574|0.41574	CTC|CCT	-	NULL		0.701	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	C	NM_006648	-		96021357	1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	SNP	0.775	G	G	96021357	C	G	96021357	3	3	109	1	0	0	0	0	1	0	0	0	17385	681	24	4	2569	4	WNK2	9	96021357	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	21661140	96021357	45192074	48	7240											
GDF2	2658	genome.wustl.edu	37	chr10	48414171	48414171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtcgcagcccttcctgtGgctctccacagtcacttcca	8	17	2	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr10:48414171G>A	ENST00000249598.1	-	2	856	c.697C>T	c.(697-699)Cac>Tac	p.H233Y		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	233					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTTCCTGTGGCTCTCCACA	0.577																																																	0								ENSG00000128802						79	79	79					10																	48414171		2203	4300	6503	GDF2	SO:0001583	missense	0			-	HGNC	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.697C>T	10.37:g.48414171G>A	ENSP00000249598:p.His233Tyr	Somatic	0	29	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q5VSQ9|Q9Y571	Missense_Mutation	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.H233Y	ENST00000249598.1	37	c.697	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333593	0.41297	.	.	ENSG00000128802	ENST00000249598	T	0.64260	-0.09	5.84	3.98	0.46160	Transforming growth factor-beta, N-terminal (1);	0.564646	0.21860	N	0.068048	T	0.56247	0.1972	M	0.65975	2.015	0.21782	N	0.999549	B	0.14438	0.01	B	0.13407	0.009	T	0.54268	-0.8319	10	0.59425	D	0.04	.	5.9106	0.19027	0.1422:0.0:0.5846:0.2732	.	233	Q9UK05	GDF2_HUMAN	Y	233	ENSP00000249598:H233Y	ENSP00000249598:H233Y	H	-	1	0	GDF2	48034177	0.016000	0.18221	0.985000	0.45067	0.987000	0.75469	1.566000	0.36396	0.811000	0.34303	0.591000	0.81541	CAC	-	pfam_TGF-b_N		0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	protein_coding	OTTHUMT00000047891.1	G	NM_016204	-		48414171	-1	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	SNP	0.615	A	A	48414171	G	A	48414171	3	1	109	1	0	0	0	0	1	0	0	0	6316	1348	47	2	596	2	GDF2	10	48414171	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		48414171	87120576	49	7241											
BLNK	29760	genome.wustl.edu	37	chr10	98031113	98031113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaaaatcttacctcaActtctgactggcggggacgg	14	9	3	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr10:98031113A>G	ENST00000224337.5	-	1	184	c.43T>C	c.(43-45)Ttg>Ctg	p.L15L	BLNK_ENST00000413476.2_Silent_p.L15L|BLNK_ENST00000495266.1_Silent_p.L15L|BLNK_ENST00000371176.2_Silent_p.L15L|BLNK_ENST00000427367.2_Silent_p.L15L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	15					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTACCTCAACTTCTGACTG	0.438																																																	0								ENSG00000095585						108	104	105					10																	98031113		2203	4300	6503	BLNK	SO:0001819	synonymous_variant	0			-	HGNC	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.43T>C	10.37:g.98031113A>G		Somatic	0	77	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.08	O75498|O75499|Q2MD49	Silent	SNP							pfam_SH2,smart_SH2,pfscan_SH2	p.L15	ENST00000224337.5	37	c.43	CCDS7446.1	10																																																																																			-	NULL		0.438	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	protein_coding	OTTHUMT00000049593.1	A	NM_013314	-		98031113	-1	no_errors	ENST00000224337	ensembl	human	known	74_37	silent	SNP	0.987	G	G	98031113	A	G	98031113	2	3	109	1	0	0	0	0	0	0	0	1	1447	40	2	5		5	BLNK	10	98031113	Silent	SNP	A	TCGA-DX-A8BX-01A-11D-A37C-09	49616942	98031113	37503634	50	7242											
MGEA5	10724	genome.wustl.edu	37	chr10	103557826	103557826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cataaagaattgtcctgttgGcacaattggagagccgagtg	12	7	0	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr10:103557826G>C	ENST00000361464.3	-	10	2290	c.1895C>G	c.(1894-1896)gCc>gGc	p.A632G	MGEA5_ENST00000439817.1_Missense_Mutation_p.A579G|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.A632G|MGEA5_ENST00000357797.5_Missense_Mutation_p.A579G	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	632					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTCCTGTTGGCACAATTGGA	0.423																																																	0								ENSG00000198408						141	127	131					10																	103557826		2203	4300	6503	MGEA5	SO:0001583	missense	0			-	HGNC	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1895C>G	10.37:g.103557826G>C	ENSP00000354850:p.Ala632Gly	Somatic	0	33	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.00	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP							pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.A632G	ENST00000361464.3	37	c.1895	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	G	16.69	3.191939	0.58017	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.35421	1.34;1.34;1.32;1.31	5.76	4.85	0.62838	.	0.108030	0.64402	D	0.000006	T	0.39937	0.1097	L	0.50333	1.59	0.80722	D	1	P;P;P;B	0.40970	0.501;0.688;0.734;0.411	B;B;P;B	0.45232	0.073;0.2;0.474;0.145	T	0.12656	-1.0539	10	0.28530	T	0.3	-3.3769	14.8909	0.70609	0.0688:0.0:0.9312:0.0	.	579;579;632;632	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	G	579;632;579;632	ENSP00000409973:A579G;ENSP00000354850:A632G;ENSP00000350445:A579G;ENSP00000359112:A632G	ENSP00000350445:A579G	A	-	2	0	MGEA5	103547816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	1.441000	0.47550	0.655000	0.94253	GCC	-	NULL		0.423	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	protein_coding	OTTHUMT00000049987.1	G	NM_012215	-		103557826	-1	no_errors	ENST00000361464	ensembl	human	known	74_37	missense	SNP	1.000	C	C	103557826	G	C	103557826	3	2	109	1	0	0	0	0	1	0	0	0	9557	1203	42	4	883	4	MGEA5	10	103557826	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	5526713	103557826	31976921	51	7243											
OR52A5	390054	genome.wustl.edu	37	chr11	5153475	5153475	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaaaagatggtggcatgtCtcaaggggatacagatggcc	16	6	1	2	rs538295981	byFrequency	TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr11:5153475C>T	ENST00000307388.1	-	1	397	c.398G>A	c.(397-399)aGa>aAa	p.R133K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	133					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTGGCATGTCTCAAGGGGAT	0.463																																																	0								ENSG00000171944						71	62	65					11																	5153475		2201	4298	6499	OR52A5	SO:0001583	missense	0			-	HGNC	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.398G>A	11.37:g.5153475C>T	ENSP00000303469:p.Arg133Lys	Somatic	0	48	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R133K	ENST00000307388.1	37	c.398	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534595	0.64972	.	.	ENSG00000171944	ENST00000307388	T	0.00416	7.51	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.01029	0.0034	M	0.89353	3.025	0.36194	D	0.850262	P	0.50943	0.94	P	0.49853	0.624	T	0.58509	-0.7624	10	0.72032	D	0.01	.	17.5151	0.87771	0.0:1.0:0.0:0.0	.	133	Q9H2C5	O52A5_HUMAN	K	133	ENSP00000303469:R133K	ENSP00000303469:R133K	R	-	2	0	OR52A5	5110051	0.005000	0.15991	1.000000	0.80357	0.298000	0.27526	2.136000	0.42121	2.707000	0.92482	0.655000	0.94253	AGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.463	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	protein_coding	OTTHUMT00000142823.1	C	NM_001005160	-		5153475	-1	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5153475	C	T	5153475	3	4	109	1	0	0	0	0	1	0	0	0	11112	913	32	2	555	2	OR52A5	11	5153475	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		5153475	129853041	52	7244											
C11orf41	25758	genome.wustl.edu	37	chr11	33569421	33569421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagaacgatgtctcagCtcacgtaagtgctttgcttt	8	12	2	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr11:33569421C>T	ENST00000321505.4	+	3	2786	c.2606C>T	c.(2605-2607)gCt>gTt	p.A869V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A875V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A875V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	869						integral component of membrane (GO:0016021)											GATGTCTCAGCTCACGTAAGT	0.458																																																	0								ENSG00000110427						108	103	105					11																	33569421		1990	4187	6177	KIAA1549L	SO:0001583	missense	0			-	HGNC	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.2606C>T	11.37:g.33569421C>T	ENSP00000315295:p.Ala869Val	Somatic	0	43	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	B0QYU0	Missense_Mutation	SNP							NULL	p.A875V	ENST00000321505.4	37	c.2624	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.865130|4.865130	0.91511|0.91511	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.186460|.	0.45606|.	D|.	0.000346|.	T|T	0.74458|0.74458	0.3719|0.3719	M|M	0.66939|0.66939	2.045|2.045	0.38399|0.38399	D|D	0.945624|0.945624	D;D|.	0.89917|.	0.991;1.0|.	P;D|.	0.79108|.	0.8;0.992|.	T|T	0.74259|0.74259	-0.3723|-0.3723	9|5	0.54805|.	T|.	0.06|.	-17.3161|-17.3161	18.197|18.197	0.89825|0.89825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	875;875|.	E9PAT2;Q6ZVL6-2|.	.;.|.	V|F	869;875;875;708|267	.|.	ENSP00000265654:A875V|.	A|L	+|+	2|1	0|0	C11orf41|C11orf41	33525997|33525997	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.815000|0.815000	0.46073|0.46073	5.275000|5.275000	0.65575|0.65575	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	GCT|CTC	-	NULL		0.458	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	protein_coding	OTTHUMT00000317998.1	C	NM_012194	-		33569421	1	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33569421	C	T	33569421	3	4	109	1	0	0	0	0	1	0	0	0	1642	797	28	2	2634	2	C11orf41	11	33569421	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	28415946	33569421	101437095	53	7245											
RAG1	5896	genome.wustl.edu	37	chr11	36596224	36596224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgagctggaggccaTcatgcagggaaagggctctg	16	8	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr11:36596224T>C	ENST00000299440.5	+	2	1482	c.1370T>C	c.(1369-1371)aTc>aCc	p.I457T		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	457					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTGGAGGCCATCATGCAGGGA	0.552									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0								ENSG00000166349						71	65	67					11																	36596224		2202	4298	6500	RAG1	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1370T>C	11.37:g.36596224T>C	ENSP00000299440:p.Ile457Thr	Somatic	0	34	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP							pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.I457T	ENST00000299440.5	37	c.1370	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552772	0.65425	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.71934	-0.61;-0.61	5.58	5.58	0.84498	RAG nonamer-binding domain (1);	0.219986	0.46442	D	0.000291	T	0.69504	0.3118	M	0.65975	2.015	0.80722	D	1	B	0.33583	0.418	B	0.30495	0.116	T	0.72975	-0.4128	10	0.87932	D	0	.	15.7965	0.78416	0.0:0.0:0.0:1.0	.	457	P15918	RAG1_HUMAN	T	457	ENSP00000434610:I457T;ENSP00000299440:I457T	ENSP00000299440:I457T	I	+	2	0	RAG1	36552800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.140000	0.66376	0.529000	0.55759	ATC	-	NULL		0.552	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	protein_coding	OTTHUMT00000389535.1	T	NM_000448	-		36596224	1	no_errors	ENST00000299440	ensembl	human	known	74_37	missense	SNP	1.000	C	C	36596224	T	C	36596224	3	2	109	1	0	0	0	0	1	0	0	0	13011	1435	50	5	1372	5	RAG1	11	36596224	Missense_Mutation	SNP	T	TCGA-DX-A8BX-01A-11D-A37C-09	3026803	36596224	98410292	54	7246											
CTNND1	1500	genome.wustl.edu	37	chr11	57576781	57576781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaacttggtaaagaatctgCcaggaggacagcagaactcc	10	10	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr11:57576781C>T	ENST00000399050.4	+	15	2814	c.2278C>T	c.(2278-2280)Cca>Tca	p.P760S	CTNND1_ENST00000358694.6_Missense_Mutation_p.P754S|CTNND1_ENST00000531014.1_Missense_Mutation_p.P431S|CTNND1_ENST00000526772.1_Missense_Mutation_p.P431S|CTNND1_ENST00000526938.1_Missense_Mutation_p.P760S|CTNND1_ENST00000526357.1_Missense_Mutation_p.P700S|CTNND1_ENST00000529919.1_Missense_Mutation_p.P760S|CTNND1_ENST00000525902.1_Missense_Mutation_p.P437S|CTNND1_ENST00000415361.2_Missense_Mutation_p.P659S|CTNND1_ENST00000360682.6_Missense_Mutation_p.P760S|CTNND1_ENST00000529873.1_Missense_Mutation_p.P700S|CTNND1_ENST00000361391.6_Missense_Mutation_p.P754S|CTNND1_ENST00000532844.1_Missense_Mutation_p.P706S|CTNND1_ENST00000532463.1_Missense_Mutation_p.P653S|CTNND1_ENST00000428599.2_Missense_Mutation_p.P754S|CTNND1_ENST00000528621.1_Missense_Mutation_p.P700S|CTNND1_ENST00000530748.1_Missense_Mutation_p.P706S|CTNND1_ENST00000533667.1_Missense_Mutation_p.P431S|CTNND1_ENST00000532649.1_Missense_Mutation_p.P700S|CTNND1_ENST00000529526.1_Missense_Mutation_p.P700S|CTNND1_ENST00000361796.4_Missense_Mutation_p.P754S|CTNND1_ENST00000399039.4_Missense_Mutation_p.P760S|CTNND1_ENST00000524630.1_Missense_Mutation_p.P754S|CTNND1_ENST00000529986.1_Missense_Mutation_p.P653S|CTNND1_ENST00000532245.1_Missense_Mutation_p.P653S|CTNND1_ENST00000426142.2_Missense_Mutation_p.P653S|CTNND1_ENST00000527467.1_Missense_Mutation_p.P437S|CTNND1_ENST00000528232.1_Missense_Mutation_p.P659S|CTNND1_ENST00000530094.1_Missense_Mutation_p.P653S|CTNND1_ENST00000532787.1_Missense_Mutation_p.P653S|CTNND1_ENST00000361332.4_Missense_Mutation_p.P754S|CTNND1_ENST00000534579.1_Missense_Mutation_p.P700S	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	760					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAAGAATCTGCCAGGAGGACA	0.418																																																	0								ENSG00000198561						102	101	101					11																	57576781		1883	4117	6000	CTNND1	SO:0001583	missense	0			-	HGNC	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2278C>T	11.37:g.57576781C>T	ENSP00000382004:p.Pro760Ser	Somatic	0	62	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P760S	ENST00000399050.4	37	c.2278	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415323	0.83449	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;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;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.055116	0.85682	D	0.000000	T	0.61438	0.2347	L	0.45352	1.415	0.58432	D	0.999999	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	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.998;0.998;0.994;0.998;0.996	T	0.62845	-0.6768	10	0.72032	D	0.01	-4.0681	14.7072	0.69200	0.0:0.8551:0.1449:0.0	.	760;754;760;653;700;700;754;760;760	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	S	754;760;760;760;754;700;653;760;754;754;653;653;754;653;431;700;700;706;754;437;659;431;431;700;437;706;700;653;659;653;700;760	ENSP00000436543:P754S;ENSP00000434808:P760S;ENSP00000381996:P760S;ENSP00000353902:P760S;ENSP00000354907:P754S;ENSP00000436323:P700S;ENSP00000409930:P653S;ENSP00000382004:P760S;ENSP00000354785:P754S;ENSP00000354823:P754S;ENSP00000432075:P653S;ENSP00000437156:P653S;ENSP00000351527:P754S;ENSP00000434949:P653S;ENSP00000437051:P431S;ENSP00000435379:P700S;ENSP00000432243:P700S;ENSP00000436744:P706S;ENSP00000413586:P754S;ENSP00000434900:P437S;ENSP00000435266:P659S;ENSP00000432623:P431S;ENSP00000433158:P431S;ENSP00000435494:P700S;ENSP00000434672:P437S;ENSP00000433276:P706S;ENSP00000433334:P700S;ENSP00000437327:P653S;ENSP00000403518:P659S;ENSP00000434017:P653S;ENSP00000435789:P700S;ENSP00000432041:P760S	ENSP00000351527:P754S	P	+	1	0	CTNND1	57333357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.782000	0.68973	2.605000	0.88082	0.655000	0.94253	CCA	-	superfamily_ARM-type_fold		0.418	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	protein_coding	OTTHUMT00000393944.1	C	NM_001331	-		57576781	1	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57576781	C	T	57576781	3	4	109	1	0	0	0	0	1	0	0	0	4021	739	26	2	2328	2	CTNND1	11	57576781	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	20980557	57576781	77429735	55	7247											
PANX1	24145	genome.wustl.edu	37	chr11	93914004	93914004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataatggagagaagaatgCccgacagagacttctggatt	11	6	1	3			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr11:93914004C>T	ENST00000227638.3	+	5	1635	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	PANX1_ENST00000436171.2_Missense_Mutation_p.A413V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	417					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GAGAAGAATGCCCGACAGAGA	0.373																																																	0								ENSG00000110218						115	116	116					11																	93914004		2201	4298	6499	PANX1	SO:0001583	missense	0			-	HGNC	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.1250C>T	11.37:g.93914004C>T	ENSP00000227638:p.Ala417Val	Somatic	0	50	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP							pfam_Innexin,pfscan_Innexin	p.A417V	ENST00000227638.3	37	c.1250	CCDS8296.1	11	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.347565	0.01266	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.16597	2.33;2.38	5.19	3.13	0.36017	.	0.839412	0.10706	N	0.643485	T	0.08802	0.0218	N	0.24115	0.695	0.20563	N	0.99989	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42413	-0.9453	10	0.02654	T	1	-7.7129	5.1497	0.15004	0.0:0.2885:0.0:0.7115	.	417;413	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	V	417;413	ENSP00000227638:A417V;ENSP00000411461:A413V	ENSP00000227638:A417V	A	+	2	0	PANX1	93553652	0.999000	0.42202	0.136000	0.22124	0.227000	0.25037	2.226000	0.42963	0.502000	0.28037	-0.140000	0.14226	GCC	-	NULL		0.373	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	protein_coding	OTTHUMT00000396121.1	C	NM_015368	-		93914004	1	no_errors	ENST00000227638	ensembl	human	known	74_37	missense	SNP	0.587	T	T	93914004	C	T	93914004	3	4	109	1	0	0	0	0	1	0	0	0	11422	739	26	2	1268	2	PANX1	11	93914004	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	36337223	93914004	41092512	56	7248											
KDM5A	5927	genome.wustl.edu	37	chr12	464396	464397	+	Frame_Shift_Del	DEL	TC	TC	-													tctgacctgttggtaactttTcgtcttcgggtgacctcatc							TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:464396_464397delTC	ENST00000399788.2	-	7	1159_1160	c.797_798delGA	c.(796-798)cgafs	p.R266fs	KDM5A_ENST00000382815.4_Frame_Shift_Del_p.R266fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	266					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R266Q(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGGTAACTTTTCGTCTTCGGGT	0.376			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	2	Substitution - Missense(2)	cervix(2)						ENSG00000073614																																			KDM5A	SO:0001589	frameshift_variant	0				HGNC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.797_798delGA	12.37:g.464396_464397delTC	ENSP00000382688:p.Arg266fs	Somatic	0	47	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Del	DEL							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R266fs	ENST00000399788.2	37	c.798_797	CCDS41736.1	12																																																																																			-	NULL		0.376	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	protein_coding	OTTHUMT00000397812.1	TC	NM_005056			464397	-1	no_errors	ENST00000399788	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	464397	TC	-	464396	7	5	109	1	0	1	0	1	0	0	0	0	8135	1770	62	0	4362	0	KDM5A	12	464396	Frame_Shift_Del	DEL	TC	TCGA-DX-A8BX-01A-11D-A37C-09		464396	133387499	57	7249											
FGF23	8074	genome.wustl.edu	37	chr12	4488550	4488550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctactcactgtagatggtctGatggggtgcgccatccacat	11	11	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:4488550G>A	ENST00000237837.1	-	1	344	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGATGGTCTGATGGGGTGCG	0.587																																																	0								ENSG00000118972						162	125	137					12																	4488550		2203	4300	6503	FGF23	SO:0001587	stop_gained	0			-	HGNC	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.199C>T	12.37:g.4488550G>A	ENSP00000237837:p.Gln67*	Somatic	0	22	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q4V758	Nonsense_Mutation	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Q67*	ENST00000237837.1	37	c.199	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.485755	0.97607	.	.	ENSG00000118972	ENST00000237837	.	.	.	4.03	4.03	0.46877	.	0.175652	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.1447	17.4772	0.87662	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000237837:Q67X	Q	-	1	0	FGF23	4358811	1.000000	0.71417	0.941000	0.38009	0.980000	0.70556	6.429000	0.73387	2.532000	0.85374	0.655000	0.94253	CAG	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam		0.587	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	protein_coding	OTTHUMT00000398936.1	G		-		4488550	-1	no_errors	ENST00000237837	ensembl	human	known	74_37	nonsense	SNP	0.992	A	A	4488550	G	A	4488550	4	1	109	1	0	0	0	0	0	1	0	0	5854	1299	45	2	568	2	FGF23	12	4488550	Nonsense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	4024154	4488550	129363345	58	7250											
ETV6	2120	genome.wustl.edu	37	chr12	12006459	12006459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaactctatacacacaCagccggaggtcatactgcat	8	12	2	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:12006459C>T	ENST00000396373.4	+	4	701	c.427C>T	c.(427-429)Cag>Tag	p.Q143*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	143					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)				TATACACACACAGCCGGAGGT	0.428			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"																																			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	0								ENSG00000139083						143	140	141					12																	12006459		2203	4300	6503	ETV6	SO:0001587	stop_gained	0			-	HGNC	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.427C>T	12.37:g.12006459C>T	ENSP00000379658:p.Gln143*	Somatic	0	36	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Nonsense_Mutation	SNP							pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q143*	ENST00000396373.4	37	c.427	CCDS8643.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.199880	0.98132	.	.	ENSG00000139083	ENST00000396373	.	.	.	5.52	4.61	0.57282	.	0.129126	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.929	0.70900	0.1486:0.8514:0.0:0.0	.	.	.	.	X	143	.	ENSP00000379658:Q143X	Q	+	1	0	ETV6	11897726	0.999000	0.42202	0.975000	0.42487	0.985000	0.73830	4.404000	0.59735	1.265000	0.44215	0.655000	0.94253	CAG	-	NULL		0.428	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	protein_coding	OTTHUMT00000400130.2	C	NM_001987	-		12006459	1	no_errors	ENST00000396373	ensembl	human	known	74_37	nonsense	SNP	0.992	T	T	12006459	C	T	12006459	4	4	109	1	0	0	0	0	0	1	0	0	5285	479	17	2	441	2	ETV6	12	12006459	Nonsense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	7517909	12006459	121845436	59	7251											
PYROXD1	79912	genome.wustl.edu	37	chr12	21590706	21590715	+	Frame_Shift_Del	DEL	GGTGGTCGGC	GGTGGTCGGC	-													ccgacggcagggaagttcgtGgtggtcggcggcggcatcgc					rs140096937		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	GGTGGTCGGC	GGTGGTCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:21590706_21590715delGGTGGTCGGC	ENST00000240651.9	+	1	96_105	c.42_51delGGTGGTCGGC	c.(40-51)gtggtggtcggcfs	p.VVVG14fs	PYROXD1_ENST00000538582.1_5'Flank|PYROXD1_ENST00000545178.1_Frame_Shift_Del_p.VVVG14fs	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	14							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GGAAGTTCGTGGTGGTCGGCGGCGGCATCG	0.671																																																	0								ENSG00000121350																																			PYROXD1	SO:0001589	frameshift_variant	0				HGNC	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.42_51delGGTGGTCGGC	12.37:g.21590706_21590715delGGTGGTCGGC	ENSP00000240651:p.Val14fs	Somatic					0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NKI6|B3KWN8|Q9H6P1	Frame_Shift_Del	DEL							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.V15fs	ENST00000240651.9	37	c.42_51	CCDS31755.1	12																																																																																			-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase		0.671	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	protein_coding	OTTHUMT00000402363.1	GGTGGTCGGC	NM_024854			21590715	1	no_errors	ENST00000240651	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:0.995:0.789:0.996:0.998:0.978	-	-	21590715	GGTGGTCGGC	-	21590706	7	5	109	1	0	1	0	1	0	0	0	0	12874	1335	47	0	44	0	PYROXD1	12	21590706	Frame_Shift_Del	DEL	GGTGGTCGGC	TCGA-DX-A8BX-01A-11D-A37C-09	9584247	21590706	112261189	60	7252											
KIAA0528	9847	genome.wustl.edu	37	chr12	22670939	22670939	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagttttgggtgtcaaactCaaatctgtgtcagaagaaga	10	7	4	3			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:22670939C>G	ENST00000333957.4	-	8	1188	c.933G>C	c.(931-933)ttG>ttC	p.L311F	C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000542676.1_Missense_Mutation_p.L311F|C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000446597.1_Missense_Mutation_p.L311F|C2CD5_ENST00000540703.1_5'Flank	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	311					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										GTGTCAAACTCAAATCTGTGT	0.388																																																	0								ENSG00000111731						195	191	193					12																	22670939		2203	4300	6503	C2CD5	SO:0001583	missense	0			-	HGNC	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.933G>C	12.37:g.22670939C>G	ENSP00000334229:p.Leu311Phe	Somatic	0	61	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L311F	ENST00000333957.4	37	c.933	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049558	0.36181	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000542676	T;T;T	0.58210	0.35;0.35;0.35	6.04	5.15	0.70609	.	.	.	.	.	T	0.69214	0.3086	M	0.65975	2.015	0.80722	D	1	P;D	0.65815	0.684;0.995	P;D	0.72982	0.453;0.979	T	0.68021	-0.5519	9	0.32370	T	0.25	-6.4076	15.1783	0.72934	0.0:0.9329:0.0:0.0671	.	311;311	B4DRN7;Q86YS7	.;K0528_HUMAN	F	311	ENSP00000334229:L311F;ENSP00000388756:L311F;ENSP00000441951:L311F	ENSP00000334229:L311F	L	-	3	2	KIAA0528	22562206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	1.568000	0.49683	0.561000	0.74099	TTG	-	NULL		0.388	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	protein_coding	OTTHUMT00000402257.1	C	NM_014802	-		22670939	-1	no_errors	ENST00000333957	ensembl	human	known	74_37	missense	SNP	1.000	G	G	22670939	C	G	22670939	3	3	109	1	0	0	0	0	1	0	0	0	8184	825	29	4	2141	4	KIAA0528	12	22670939	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	1080233	22670939	111180956	61	7253											
SCN8A	6334	genome.wustl.edu	37	chr12	52145167	52145167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctcagagaaagtgcccGccatgctggtataaatttgc	11	9	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:52145167G>A	ENST00000354534.6	+	14	2338	c.2160G>A	c.(2158-2160)ccG>ccA	p.P720P	SCN8A_ENST00000545061.1_Silent_p.P720P|SCN8A_ENST00000550891.1_Silent_p.P720P	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	720					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GAAAGTGCCCGCCATGCTGGT	0.458																																																	0								ENSG00000196876						142	130	134					12																	52145167		1891	4102	5993	SCN8A	SO:0001819	synonymous_variant	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2160G>A	12.37:g.52145167G>A		Somatic	0	67	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.P720	ENST00000354534.6	37	c.2160	CCDS44891.1	12																																																																																			-	NULL		0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	G	NM_014191	-		52145167	1	no_errors	ENST00000354534	ensembl	human	known	74_37	silent	SNP	0.002	A	A	52145167	G	A	52145167	2	1	109	1	0	0	0	0	0	0	0	1	13932	1074	38	1		1	SCN8A	12	52145167	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	29474228	52145167	81706728	62	7254											
SILV	6490	genome.wustl.edu	37	chr12	56355132	56355132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattgttgacccagataacCtgcccatctggcaatacctt	7	12	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:56355132C>T	ENST00000548747.1	-	3	965	c.303G>A	c.(301-303)caG>caA	p.Q101Q	PMEL_ENST00000550447.1_Silent_p.Q64Q|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000449260.2_Silent_p.Q101Q|PMEL_ENST00000360714.4_Silent_p.Q101Q|PMEL_ENST00000548493.1_Silent_p.Q101Q|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Silent_p.Q101Q|PMEL_ENST00000536427.1_Silent_p.Q101Q			P40967	PMEL_HUMAN	premelanosome protein	101					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCAGATAACCTGCCCATCTG	0.478																																																	0								ENSG00000185664						192	169	177					12																	56355132		2203	4300	6503	PMEL	SO:0001819	synonymous_variant	0			-	HGNC	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.303G>A	12.37:g.56355132C>T		Somatic	0	27	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.Q101	ENST00000548747.1	37	c.303	CCDS8897.1	12																																																																																			-	NULL		0.478	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	protein_coding	OTTHUMT00000409626.1	C	NM_006928	-		56355132	-1	no_errors	ENST00000360714	ensembl	human	known	74_37	silent	SNP	0.999	T	T	56355132	C	T	56355132	2	4	109	1	0	0	0	0	0	0	0	1	14330	680	24	2		2	SILV	12	56355132	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	4209965	56355132	77496763	63	7255											
MIP	4284	genome.wustl.edu	37	chr12	56847521	56847521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtggttgcctggcccaCgctcaccgcagggtgcaact	12	15	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:56847521C>T	ENST00000257979.4	-	2	407	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	127					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCCTGGCCCACGCTCACCGCA	0.582																																																	0								ENSG00000135517						54	38	43					12																	56847521		2203	4300	6503	MIP	SO:0001583	missense	0			-	HGNC		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"Ion channels / Aquaporins"	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.379G>A	12.37:g.56847521C>T	ENSP00000257979:p.Val127Met	Somatic	0	23	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	Q17R41	Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.V127M	ENST00000257979.4	37	c.379	CCDS8919.1	12	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476509	0.44044	.	.	ENSG00000135517	ENST00000257979	D	0.93307	-3.2	4.98	3.1	0.35709	Aquaporin-like (2);	0.284770	0.35179	N	0.003387	D	0.83949	0.5365	N	0.13327	0.33	0.33720	D	0.6169	B	0.13594	0.008	B	0.15870	0.014	T	0.81011	-0.1126	10	0.56958	D	0.05	-4.9365	4.7305	0.12962	0.1565:0.6081:0.1516:0.0838	.	127	P30301	MIP_HUMAN	M	127	ENSP00000257979:V127M	ENSP00000257979:V127M	V	-	1	0	MIP	55133788	0.773000	0.28580	1.000000	0.80357	0.941000	0.58515	1.133000	0.31430	1.199000	0.43173	0.655000	0.94253	GTG	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.582	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIP	protein_coding	OTTHUMT00000409620.1	C	NM_012064	-		56847521	-1	no_errors	ENST00000257979	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56847521	C	T	56847521	3	4	109	1	0	0	0	0	1	0	0	0	9593	536	19	1	424	1	MIP	12	56847521	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	492389	56847521	77004374	64	7256											
CHST11	50515	genome.wustl.edu	37	chr12	105151192	105151192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacgccagcggaagaacGccacccaggaggccctgcgc	12	16	1	1	rs148230565	byFrequency	TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:105151192G>A	ENST00000303694.5	+	3	1109	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CHST11_ENST00000549260.1_Missense_Mutation_p.A219T	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	224					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCGGAAGAACGCCACCCAGGA	0.567																																																	0								ENSG00000171310						125	106	113					12																	105151192		2203	4300	6503	CHST11	SO:0001583	missense	0			-	HGNC	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.670G>A	12.37:g.105151192G>A	ENSP00000305725:p.Ala224Thr	Somatic	0	54	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	76	9.52	A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP							pfam_Sulfotransferase	p.A224T	ENST00000303694.5	37	c.670	CCDS9099.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074232	0.76415	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.74209	-0.82;-0.82	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65443	0.774;0.935	T	0.80443	-0.1380	10	0.20046	T	0.44	-9.1307	19.2155	0.93776	0.0:0.0:1.0:0.0	.	219;224	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	T	219;224	ENSP00000450004:A219T;ENSP00000305725:A224T	ENSP00000305725:A224T	A	+	1	0	CHST11	103675322	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.573000	0.74009	2.553000	0.86117	0.655000	0.94253	GCC	-	pfam_Sulfotransferase		0.567	CHST11-001	KNOWN	basic|CCDS	protein_coding	CHST11	protein_coding	OTTHUMT00000405960.2	G	NM_018413	-		105151192	1	no_errors	ENST00000303694	ensembl	human	known	74_37	missense	SNP	1.000	A	A	105151192	G	A	105151192	3	1	109	1	0	0	0	0	1	0	0	0	3401	1087	38	1	680	1	CHST11	12	105151192	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	48303671	105151192	28700703	65	7257											
TBX3	6926	genome.wustl.edu	37	chr12	115109883	115109883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccaggggccccgcggcCgccgccatggagggcagggc	18	17	0	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:115109883C>T	ENST00000257566.3	-	8	2384	c.1995G>A	c.(1993-1995)gcG>gcA	p.A665A	TBX3_ENST00000349155.2_Silent_p.A645A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	665	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCCCCGCGGCCGCCGCCATGG	0.741																																																	0								ENSG00000135111						5	6	6					12																	115109883		2045	3934	5979	TBX3	SO:0001819	synonymous_variant	0			-	HGNC	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1995G>A	12.37:g.115109883C>T		Somatic	0	33	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	Q8TB20|Q9UKF8	Silent	SNP							pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A665	ENST00000257566.3	37	c.1995	CCDS9176.1	12																																																																																			-	NULL		0.741	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	protein_coding	OTTHUMT00000404947.2	C	NM_016569, NM_005996	-		115109883	-1	no_errors	ENST00000257566	ensembl	human	known	74_37	silent	SNP	0.509	T	T	115109883	C	T	115109883	2	4	109	1	0	0	0	0	0	0	0	1	15666	639	23	1		1	TBX3	12	115109883	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	9958691	115109883	18742012	66	7258											
CCDC60	160777	genome.wustl.edu	37	chr12	119943003	119943003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgatctctgtgaaccctGgctcggatgagcccccaagt	11	13	1	3			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:119943003G>A	ENST00000327554.2	+	7	1243	c.778G>A	c.(778-780)Ggc>Agc	p.G260S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	260										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)		TGTGAACCCTGGCTCGGATGA	0.572																																																	0								ENSG00000183273						144	147	146					12																	119943003		2203	4300	6503	CCDC60	SO:0001583	missense	0			-	HGNC	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.778G>A	12.37:g.119943003G>A	ENSP00000333374:p.Gly260Ser	Somatic	0	57	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	68	17.07		Missense_Mutation	SNP							NULL	p.G260S	ENST00000327554.2	37	c.778	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	8.887	0.952968	0.18431	.	.	ENSG00000183273	ENST00000327554	T	0.24723	1.84	5.07	0.915	0.19366	.	0.414382	0.20472	N	0.091680	T	0.16342	0.0393	L	0.44542	1.39	0.48696	D	0.999693	P	0.44627	0.839	B	0.38985	0.287	T	0.06661	-1.0814	9	.	.	.	-18.4495	3.9123	0.09209	0.3204:0.1784:0.5012:0.0	.	260	Q8IWA6	CCD60_HUMAN	S	260	ENSP00000333374:G260S	.	G	+	1	0	CCDC60	118427386	0.830000	0.29337	0.366000	0.25914	0.325000	0.28411	0.983000	0.29552	0.101000	0.17610	-0.182000	0.12963	GGC	-	NULL		0.572	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	G	NM_178499	-		119943003	1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	SNP	0.246	A	A	119943003	G	A	119943003	3	1	109	1	0	0	0	0	1	0	0	0	2833	1348	47	2	804	2	CCDC60	12	119943003	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	4833120	119943003	13908892	67	7259											
MMP17	4326	genome.wustl.edu	37	chr12	132313098	132313099	+	In_Frame_Ins	INS	-	-	GCTGCCGCT													ccagggcccggactctcgcgINSgctgccgctgccgctgctgc					rs559842978|rs201578983|rs71072797	byFrequency	TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr12:132313098_132313099insGCTGCCGCT	ENST00000360564.1	+	1	161_162	c.59_60insGCTGCCGCT	c.(58-63)cggctg>cgGCTGCCGCTgctg	p.21_22insPLL		NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	21					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	ggactctcgcggctgccgctgc	0.837														4777	0.953874	0.8797	0.9741	5008	,	,		2816	0.999		0.9702	False		,,,				2504	0.9765																0								ENSG00000198598																																			MMP17	SO:0001652	inframe_insertion	0				HGNC	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.60_68dupGCTGCCGCT	12.37:g.132313099_132313107dupGCTGCCGCT	ENSP00000353767:p.Leu21_Pro22insProLeuLeu	Somatic					0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q14850	In_Frame_Ins	INS							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.24in_frame_insLPL	ENST00000360564.1	37	c.59_60	CCDS31927.1	12																																																																																			-	pirsf_Pept_M10A_Metazoans		0.837	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	protein_coding	OTTHUMT00000397757.1	-	NM_016155			132313099	1	no_errors	ENST00000360564	ensembl	human	known	74_37	in_frame_ins	INS	0.023:0.052	GCTGCCGCT	GCTGCCGCT	132313099	-	GCTGCCGCT	132313098	7	5	109	1	0	1	1	0	0	0	0	0	9658	1116	39	0	61	0	MMP17	12	132313098	In_Frame_Ins	INS	-	TCGA-DX-A8BX-01A-11D-A37C-09	12370095	132313098	1538797	68	7260											
CAB39L	81617	genome.wustl.edu	37	chr13	49925039	49925039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtaaggcaatctgtggGgcttcatatctaaagcgtaa	10	8	3	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr13:49925039G>A	ENST00000355854.4	-	5	902	c.405C>T	c.(403-405)gcC>gcT	p.A135A	CAB39L_ENST00000409308.1_Silent_p.A135A|CAB39L_ENST00000410043.1_Silent_p.A135A|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000347776.5_Silent_p.A135A	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	135					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CAATCTGTGGGGCTTCATATC	0.343																																																	0								ENSG00000102547						84	81	82					13																	49925039		2203	4300	6503	CAB39L	SO:0001819	synonymous_variant	0			-	HGNC	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.405C>T	13.37:g.49925039G>A		Somatic	0	56	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	27.50	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP							pfam_Mo25,superfamily_ARM-type_fold	p.A135	ENST00000355854.4	37	c.405	CCDS9416.2	13																																																																																			-	pfam_Mo25,superfamily_ARM-type_fold		0.343	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	protein_coding	OTTHUMT00000044908.3	G	NM_030925	-		49925039	-1	no_errors	ENST00000347776	ensembl	human	known	74_37	silent	SNP	1.000	A	A	49925039	G	A	49925039	2	1	109	1	0	0	0	0	0	0	0	1	2528	1219	43	2		2	CAB39L	13	49925039	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		49925039	65244839	69	7261											
CLDN10	9071	genome.wustl.edu	37	chr13	96212707	96212707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctttgatcctctctttGttgagcaaaagtaagtactc	6	8	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr13:96212707G>A	ENST00000299339.2	+	3	483	c.454G>A	c.(454-456)Gtt>Att	p.V152I	CLDN10_ENST00000376873.3_Missense_Mutation_p.V150I|CLDN10_ENST00000376855.1_Missense_Mutation_p.V70I	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	152					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|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)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TCCTCTCTTTGTTGAGCAAAA	0.368																																																	0								ENSG00000134873						150	138	142					13																	96212707		2203	4300	6503	CLDN10	SO:0001583	missense	0			-	HGNC	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.454G>A	13.37:g.96212707G>A	ENSP00000299339:p.Val152Ile	Somatic	0	39	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	35.29	Q6IBF9|Q96N78	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin	p.V152I	ENST00000299339.2	37	c.454	CCDS9476.1	13	.	.	.	.	.	.	.	.	.	.	G	7.957	0.746236	0.15710	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.88975	-2.45;-2.45;-2.45	5.75	2.93	0.34026	.	0.818386	0.11238	N	0.584893	D	0.83580	0.5285	L	0.52011	1.625	0.33863	D	0.634069	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.15052	0.005;0.005;0.012	T	0.78076	-0.2345	10	0.28530	T	0.3	.	5.9064	0.19004	0.2186:0.0:0.6458:0.1357	.	152;152;150	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	I	150;152;70	ENSP00000366069:V150I;ENSP00000299339:V152I;ENSP00000366051:V70I	ENSP00000299339:V152I	V	+	1	0	CLDN10	95010708	0.037000	0.19845	0.403000	0.26384	0.845000	0.48019	0.316000	0.19469	0.760000	0.33108	0.650000	0.86243	GTT	-	pfam_PMP22/EMP/MP20/Claudin		0.368	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN10	protein_coding	OTTHUMT00000045484.1	G	NM_006984	-		96212707	1	no_errors	ENST00000299339	ensembl	human	known	74_37	missense	SNP	0.700	A	A	96212707	G	A	96212707	3	1	109	1	0	0	0	0	1	0	0	0	3474	1377	48	2	682	2	CLDN10	13	96212707	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	46287668	96212707	18957171	70	7262											
NALCN	259232	genome.wustl.edu	37	chr13	101936334	101936334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgttgacatccacagctaCcagctgccaacctccagcag	7	16	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr13:101936334C>A	ENST00000251127.6	-	10	1165	c.1084G>T	c.(1084-1086)Gta>Tta	p.V362L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V362L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	362					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)					TCCACAGCTACCAGCTGCCAA	0.468																																																	0								ENSG00000102452						43	43	43					13																	101936334		2203	4300	6503	NALCN	SO:0001583	missense	0			-	HGNC	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.1084G>T	13.37:g.101936334C>A	ENSP00000251127:p.Val362Leu	Somatic	0	87	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	47	34.72	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.V362L	ENST00000251127.6	37	c.1084	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779604	0.90195	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98296	-4.58;-4.85	5.6	5.6	0.85130	.	0.058479	0.64402	D	0.000002	D	0.97888	0.9306	L	0.60455	1.87	0.80722	D	1	P;P;P	0.49961	0.76;0.915;0.93	P;P;P	0.49887	0.505;0.542;0.625	D	0.98065	1.0395	10	0.49607	T	0.09	.	19.6044	0.95575	0.0:1.0:0.0:0.0	.	362;362;362	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	L	362	ENSP00000251127:V362L;ENSP00000365367:V362L	ENSP00000251127:V362L	V	-	1	0	NALCN	100734335	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.450000	0.80656	2.638000	0.89438	0.543000	0.68304	GTA	-	NULL		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	protein_coding	OTTHUMT00000045663.2	C	NM_052867	-		101936334	-1	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101936334	C	A	101936334	3	1	109	1	0	0	0	0	1	0	0	0	10150	507	18	3	4272	3	NALCN	13	101936334	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	5723627	101936334	13233544	71	7263											
LRRC16B	90668	genome.wustl.edu	37	chr14	24538444	24538444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctgatagaagacggcctCctgaccccacaggtgctggt	11	13	0	4			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr14:24538444C>T	ENST00000342740.5	+	39	4235	c.4081C>T	c.(4081-4083)Cct>Tct	p.P1361S	CPNE6_ENST00000216775.2_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.P414S|CPNE6_ENST00000397016.2_5'Flank|CPNE6_ENST00000537691.1_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1361						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AAGACGGCCTCCTGACCCCAC	0.657																																																	0								ENSG00000186648						44	48	47					14																	24538444		2203	4300	6503	LRRC16B	SO:0001583	missense	0			-	HGNC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.4081C>T	14.37:g.24538444C>T	ENSP00000340467:p.Pro1361Ser	Somatic	0	31	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	Q8TEF7|Q96HS9	Missense_Mutation	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1361S	ENST00000342740.5	37	c.4081	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382455	0.61845	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.60299	0.2;0.2	4.85	4.85	0.62838	.	0.000000	0.41396	D	0.000887	T	0.61299	0.2336	N	0.19112	0.55	0.33138	D	0.544025	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.68853	-0.5299	10	0.45353	T	0.12	-2.2147	13.3355	0.60515	0.0:1.0:0.0:0.0	.	414;1361	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	S	1361;414	ENSP00000340467:P1361S;ENSP00000334701:P414S	ENSP00000334701:P414S	P	+	1	0	LRRC16B	23608284	0.893000	0.30496	1.000000	0.80357	0.894000	0.52154	2.391000	0.44424	2.513000	0.84729	0.563000	0.77884	CCT	-	NULL		0.657	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	protein_coding	OTTHUMT00000416527.1	C	NM_138360	-		24538444	1	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24538444	C	T	24538444	3	4	109	1	0	0	0	0	1	0	0	0	8974	855	30	2	4235	2	LRRC16B	14	24538444	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		24538444	82811096	72	7264											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102504807	102504807	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaatgcaggatgtggaaaGctacgatccagttttgaacc	12	7	0	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr14:102504807G>C	ENST00000360184.4	+	58	11083	c.10919G>C	c.(10918-10920)aGc>aCc	p.S3640T	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3640	AAA 5. {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)			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						GATGTGGAAAGCTACGATCCA	0.527																																																	0								ENSG00000197102						79	77	78					14																	102504807		2203	4300	6503	DYNC1H1	SO:0001583	missense	0			-	HGNC	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.10919G>C	14.37:g.102504807G>C	ENSP00000348965:p.Ser3640Thr	Somatic	0	49	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.S3640T	ENST00000360184.4	37	c.10919	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684860	0.68157	.	.	ENSG00000197102	ENST00000360184	T	0.24350	1.86	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	N	0.13168	0.305	0.80722	D	1	B	0.32283	0.362	B	0.30029	0.11	T	0.05178	-1.0901	10	0.27082	T	0.32	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	3640	Q14204	DYHC1_HUMAN	T	3640	ENSP00000348965:S3640T	ENSP00000348965:S3640T	S	+	2	0	DYNC1H1	101574560	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	AGC	-	NULL		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	G	NM_001376	-		102504807	1	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	SNP	1.000	C	C	102504807	G	C	102504807	3	2	109	1	0	0	0	0	1	0	0	0	4843	971	34	4	11149	4	DYNC1H1	14	102504807	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	77966363	102504807	4844733	73	7265			1	63		4	4	1052	N	G_C	6.294528e-09
DYNC1H1	1778	genome.wustl.edu	37	chr14	102505585	102505585	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacttcaccatggagtccctCaagcaggtgggtgccttggc	12	12	2	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr14:102505585C>G	ENST00000360184.4	+	60	11618	c.11454C>G	c.(11452-11454)ctC>ctG	p.L3818L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3818					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)			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						TGGAGTCCCTCAAGCAGGTGG	0.642																																																	0								ENSG00000197102						55	56	55					14																	102505585		2203	4299	6502	DYNC1H1	SO:0001819	synonymous_variant	0			-	HGNC	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.11454C>G	14.37:g.102505585C>G		Somatic	0	90	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L3818	ENST00000360184.4	37	c.11454	CCDS9966.1	14																																																																																			-	NULL		0.642	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102505585	1	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	SNP	1.000	G	G	102505585	C	G	102505585	2	3	109	1	0	0	0	0	0	0	0	1	4843	813	29	4		4	DYNC1H1	14	102505585	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	778	102505585	4843955	74	7266			1	63		4	4	1052	N	G_C	6.294528e-09
DYNC1H1	1778	genome.wustl.edu	37	chr14	102505775	102505775	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcttgtaccagtactccctCcagtttttcctggacattta	5	12	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr14:102505775C>G	ENST00000360184.4	+	61	11651	c.11487C>G	c.(11485-11487)ctC>ctG	p.L3829L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3829					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)			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						AGTACTCCCTCCAGTTTTTCC	0.542																																																	0								ENSG00000197102						94	87	89					14																	102505775		2203	4300	6503	DYNC1H1	SO:0001819	synonymous_variant	0			-	HGNC	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.11487C>G	14.37:g.102505775C>G		Somatic	0	61	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L3829	ENST00000360184.4	37	c.11487	CCDS9966.1	14																																																																																			-	NULL		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102505775	1	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	SNP	0.620	G	G	102505775	C	G	102505775	2	3	109	1	0	0	0	0	0	0	0	1	4843	842	30	4		4	DYNC1H1	14	102505775	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	190	102505775	4843765	75	7267			1	63		4	4	1052	N	G_C	6.294528e-09
DYNC1H1	1778	genome.wustl.edu	37	chr14	102505858	102505858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgaccacacacagcgcctgtCcattataacaaaggacctct	6	15	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr14:102505858C>G	ENST00000360184.4	+	61	11734	c.11570C>G	c.(11569-11571)tCc>tGc	p.S3857C	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3857					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)			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						CAGCGCCTGTCCATTATAACA	0.532																																																	0								ENSG00000197102						98	91	94					14																	102505858		2203	4300	6503	DYNC1H1	SO:0001583	missense	0			-	HGNC	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.11570C>G	14.37:g.102505858C>G	ENSP00000348965:p.Ser3857Cys	Somatic	0	33	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.S3857C	ENST00000360184.4	37	c.11570	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467064	0.43839	.	.	ENSG00000197102	ENST00000360184	T	0.62364	0.03	5.42	3.51	0.40186	.	0.299368	0.37261	N	0.002170	T	0.59004	0.2162	L	0.50333	1.59	0.41158	D	0.986071	B	0.32939	0.391	B	0.35240	0.198	T	0.59563	-0.7431	10	0.52906	T	0.07	.	15.4934	0.75629	0.0:0.737:0.263:0.0	.	3857	Q14204	DYHC1_HUMAN	C	3857	ENSP00000348965:S3857C	ENSP00000348965:S3857C	S	+	2	0	DYNC1H1	101575611	0.753000	0.28349	0.634000	0.29324	0.786000	0.44442	1.506000	0.35747	0.589000	0.29677	0.591000	0.81541	TCC	-	NULL		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102505858	1	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	SNP	0.902	G	G	102505858	C	G	102505858	3	3	109	1	0	0	0	0	1	0	0	0	4843	855	30	4	11812	4	DYNC1H1	14	102505858	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	83	102505858	4843682	76	7268			1	63		4	4	1052	N	G_C	6.294528e-09
ZNF592	9640	genome.wustl.edu	37	chr15	85327615	85327615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtgcccctctatgcgcCaaatctcagcccgcctgcgg	9	20	2	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr15:85327615C>T	ENST00000560079.2	+	4	1997	c.1709C>T	c.(1708-1710)cCa>cTa	p.P570L	ZNF592_ENST00000299927.3_Missense_Mutation_p.P570L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	570					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTATGCGCCAAATCTCAGC	0.602																																																	0								ENSG00000166716						93	97	96					15																	85327615		2203	4299	6502	ZNF592	SO:0001583	missense	0			-	HGNC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1709C>T	15.37:g.85327615C>T	ENSP00000452877:p.Pro570Leu	Somatic	0	52	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	44	26.23	Q2M1T2|Q504Y9	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P570L	ENST00000560079.2	37	c.1709	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793761	0.70452	.	.	ENSG00000166716	ENST00000299927	T	0.01113	5.32	4.85	4.85	0.62838	.	0.050975	0.85682	D	0.000000	T	0.04497	0.0123	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51748	-0.8666	10	0.59425	D	0.04	-10.3021	15.5092	0.75766	0.0:1.0:0.0:0.0	.	570	Q92610	ZN592_HUMAN	L	570	ENSP00000299927:P570L	ENSP00000299927:P570L	P	+	2	0	ZNF592	83128619	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.541000	0.82084	2.503000	0.84419	0.655000	0.94253	CCA	-	NULL		0.602	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	protein_coding	OTTHUMT00000418779.2	C	NM_014630	-		85327615	1	no_errors	ENST00000299927	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85327615	C	T	85327615	3	4	109	1	0	0	0	0	1	0	0	0	18029	594	21	2	1711	2	ZNF592	15	85327615	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		85327615	17203777	77	7269											
TIGD7	91151	genome.wustl.edu	37	chr16	3350579	3350579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaccttcattttctcctcCaaattcagtgttgtatattt	4	9	3	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr16:3350579C>A	ENST00000396862.1	-	2	1864	c.36G>T	c.(34-36)ttG>ttT	p.L12F	TIGD7_ENST00000268674.2_Missense_Mutation_p.L12F|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	12	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTTCTCCTCCAAATTCAGTG	0.338																																																	0								ENSG00000140993						87	87	87					16																	3350579		2197	4300	6497	TIGD7	SO:0001583	missense	0			-	HGNC	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.36G>T	16.37:g.3350579C>A	ENSP00000380071:p.Leu12Phe	Somatic	0	77	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	29	38.78	Q9BXZ0	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L12F	ENST00000396862.1	37	c.36	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509809	0.44660	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.49720	0.77;0.77	4.38	3.35	0.38373	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.29594	U	0.011720	T	0.54983	0.1892	L	0.48877	1.53	0.26733	N	0.970545	D	0.76494	0.999	D	0.91635	0.999	T	0.38779	-0.9645	10	0.44086	T	0.13	.	6.4231	0.21754	0.0:0.8646:0.0:0.1354	.	12	Q6NT04	TIGD7_HUMAN	F	12	ENSP00000380071:L12F;ENSP00000268674:L12F	ENSP00000268674:L12F	L	-	3	2	TIGD7	3290580	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.502000	0.22594	2.283000	0.76528	0.655000	0.94253	TTG	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq		0.338	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	protein_coding	OTTHUMT00000251465.1	C	NM_033208	-		3350579	-1	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3350579	C	A	3350579	3	1	109	1	0	0	0	0	1	0	0	0	15908	593	21	3	1617	3	TIGD7	16	3350579	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		3350579	87004174	78	7270											
ITGAL	3683	genome.wustl.edu	37	chr16	30528400	30528400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacacaccagtggagcgTgcagatggtgagtgctgcct	13	11	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr16:30528400T>C	ENST00000356798.6	+	26	3149	c.2969T>C	c.(2968-2970)gTg>gCg	p.V990A	ITGAL_ENST00000433423.2_Missense_Mutation_p.V224A|ITGAL_ENST00000358164.5_Missense_Mutation_p.V906A	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	990					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CAGTGGAGCGTGCAGATGGTG	0.627																																					NSCLC(110;1462 1641 3311 33990 49495)												0								ENSG00000005844						86	85	85					16																	30528400		2197	4300	6497	ITGAL	SO:0001583	missense	0			-	HGNC		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2969T>C	16.37:g.30528400T>C	ENSP00000349252:p.Val990Ala	Somatic	0	36	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.V990A	ENST00000356798.6	37	c.2969	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324396	0.81580	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.55413	0.52;0.52;0.52	4.67	4.67	0.58626	Integrin alpha-2 (1);	0.309846	0.23692	N	0.045506	T	0.65344	0.2682	M	0.72118	2.19	0.50039	D	0.99984	D;D;D	0.76494	0.999;0.985;0.985	D;P;P	0.70487	0.969;0.906;0.906	T	0.62272	-0.6889	10	0.13470	T	0.59	.	10.6833	0.45828	0.0:0.0:0.0:1.0	.	224;906;990	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	A	990;906;224	ENSP00000349252:V990A;ENSP00000350886:V906A;ENSP00000409377:V224A	ENSP00000349252:V990A	V	+	2	0	ITGAL	30435901	0.887000	0.30362	0.282000	0.24776	0.697000	0.40408	2.519000	0.45546	2.080000	0.62538	0.455000	0.32223	GTG	-	pfam_Integrin_alpha-2		0.627	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	protein_coding	OTTHUMT00000434508.2	T		-		30528400	1	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	SNP	0.296	C	C	30528400	T	C	30528400	3	2	109	1	0	0	0	0	1	0	0	0	7888	1696	59	5	3071	5	ITGAL	16	30528400	Missense_Mutation	SNP	T	TCGA-DX-A8BX-01A-11D-A37C-09	27177821	30528400	59826353	79	7271											
CDH11	1009	genome.wustl.edu	37	chr16	65016106	65016106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatcttgacggtcacagtGtccttgaaagggccattgct	12	9	2	3			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr16:65016106G>T	ENST00000268603.4	-	8	1713	c.1098C>A	c.(1096-1098)gaC>gaA	p.D366E	CDH11_ENST00000566827.1_Missense_Mutation_p.D240E|CDH11_ENST00000394156.3_Missense_Mutation_p.D366E	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	366	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGGTCACAGTGTCCTTGAAAG	0.488			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0								ENSG00000140937						163	131	142					16																	65016106		2203	4300	6503	CDH11	SO:0001583	missense	0			-	HGNC	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1098C>A	16.37:g.65016106G>T	ENSP00000268603:p.Asp366Glu	Somatic	0	103	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	40	31.03	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D366E	ENST00000268603.4	37	c.1098	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991260	0.74703	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01705	4.68;4.68	5.61	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.89904	3.07	0.45930	D	0.998766	D;D	0.76494	0.992;0.999	P;D	0.69479	0.639;0.964	T	0.00135	-1.2007	10	0.87932	D	0	.	9.0595	0.36425	0.1743:0.0:0.8257:0.0	.	366;366	P55287-2;P55287	.;CAD11_HUMAN	E	366;366;349	ENSP00000268603:D366E;ENSP00000377711:D366E	ENSP00000268603:D366E	D	-	3	2	CDH11	63573607	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.954000	0.29175	1.433000	0.47394	0.655000	0.94253	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	protein_coding	OTTHUMT00000268755.1	G	NM_033664	-		65016106	-1	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65016106	G	T	65016106	3	4	109	1	0	0	0	0	1	0	0	0	3099	1368	48	3	1316	3	CDH11	16	65016106	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	34487706	65016106	25338647	80	7272											
KLHDC4	54758	genome.wustl.edu	37	chr16	87745030	87745030	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacccccgaagggttcatCcgagtccaaacccacttgtc	8	15	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr16:87745030C>T	ENST00000270583.5	-	9	913	c.855G>A	c.(853-855)cgG>cgA	p.R285R	KLHDC4_ENST00000353170.5_Silent_p.R228R|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Silent_p.R254R	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	285										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AAGGGTTCATCCGAGTCCAAA	0.582																																																	0								ENSG00000104731						35	35	35					16																	87745030		2198	4300	6498	KLHDC4	SO:0001819	synonymous_variant	0			-	HGNC	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.855G>A	16.37:g.87745030C>T		Somatic	0	46	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP							pfam_Kelch_2,pfam_Kelch_1	p.R285	ENST00000270583.5	37	c.855	CCDS10963.1	16																																																																																			-	pfam_Kelch_2		0.582	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	protein_coding	OTTHUMT00000269109.2	C	NM_017566	-		87745030	-1	no_errors	ENST00000270583	ensembl	human	known	74_37	silent	SNP	0.004	T	T	87745030	C	T	87745030	2	4	109	1	0	0	0	0	0	0	0	1	8360	842	30	2		2	KLHDC4	16	87745030	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	22728924	87745030	2609723	81	7273											
NXN	64359	genome.wustl.edu	37	chr17	708474	708474	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctgcgggtccagcatgatGagcgtggggatgcctgcagg	17	11	0	2	rs193165884		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:708474G>A	ENST00000336868.3	-	6	925	c.834C>T	c.(832-834)ctC>ctT	p.L278L	NXN_ENST00000575801.1_Silent_p.L170L|NXN_ENST00000538650.1_Intron|NXN_ENST00000537628.2_Silent_p.L29L	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	278	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CCAGCATGATGAGCGTGGGGA	0.726													G|||	1	0.000199681	0	0	5008	,	,		11343	0.001		0	False		,,,				2504	0																0								ENSG00000167693						21	19	19					17																	708474		2201	4297	6498	NXN	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.834C>T	17.37:g.708474G>A		Somatic	0	113	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	101	44.86	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP							pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.L278	ENST00000336868.3	37	c.834	CCDS10998.1	17																																																																																			-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold		0.726	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	protein_coding	OTTHUMT00000206669.1	G		rs193165884		708474	-1	no_errors	ENST00000336868	ensembl	human	known	74_37	silent	SNP	1.000	A	A	708474	G	A	708474	2	1	109	1	0	0	0	0	0	0	0	1	10789	1277	45	2		2	NXN	17	708474	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		708474	80486736	82	7274											
YWHAE	7531	genome.wustl.edu	37	chr17	1265304	1265305	+	Splice_Site	INS	-	-	A													ctttagctcagtctcaacctINSaaaaaaaaaaaaattttttt					rs543499657|rs34985093	byFrequency	TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:1265304_1265305insA	ENST00000264335.8	-	3	532		c.e3-2		YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Splice_Site	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGTCTCAACCtaaaaaaaaaaa	0.322			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						|||unknown(HR)	578	0.115415	0.3669	0.0346	5008	,	,		19509	0.0188		0.0099	False		,,,				2504	0.0409							Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	0								ENSG00000108953																																			YWHAE	SO:0001630	splice_region_variant	0				HGNC	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.265-2->T	17.37:g.1265315_1265315dupA		Somatic	0	35	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Splice_Site	INS							-	e3-2	ENST00000264335.8	37	c.265-3_265-2	CCDS11001.1	17																																																																																			-	-		0.322	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAE	protein_coding	OTTHUMT00000259354.3	-	NM_006761		Intron	1265305	-1	no_errors	ENST00000264335	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.895	A	A	1265305	-	A	1265304	8	5	109	1	0	1	1	0	0	0	1	0	17509	1536	53	0	520	0	YWHAE	17	1265304	Splice_Site	INS	-	TCGA-DX-A8BX-01A-11D-A37C-09	556830	1265304	79929906	83	7275											
EVI2A	2123	genome.wustl.edu	37	chr17	29645499	29645499	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagaaaatcgccattgcttCtaggctgacgcttgcctact	8	13	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:29645499C>G	ENST00000462804.2	-	2	932	c.533G>C	c.(532-534)aGa>aCa	p.R178T	NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Nonstop_Mutation_p.*117Y|EVI2A_ENST00000461237.1_Missense_Mutation_p.R178T|EVI2A_ENST00000247270.3_Missense_Mutation_p.R201T|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	178					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GCCATTGCTTCTAGGCTGACG	0.438																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000126860						90	79	83					17																	29645499		2203	4300	6503	EVI2A	SO:0001583	missense	0			-	HGNC	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.533G>C	17.37:g.29645499C>G	ENSP00000420557:p.Arg178Thr	Somatic	0	37	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B2R5X2|B4DHX8	Missense_Mutation	SNP							pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A	p.R201T	ENST00000462804.2	37	c.602	CCDS42293.1	17	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516696	0.85495	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80139	-0.1507	9	0.87932	D	0	.	18.8387	0.92172	0.0:1.0:0.0:0.0	.	178;201	P22794;P22794-2	EVI2A_HUMAN;.	T	178;174;178;201	.	ENSP00000247270:R201T	R	-	2	0	EVI2A	26669625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.167000	0.64972	2.688000	0.91661	0.655000	0.94253	AGA	-	pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A		0.438	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	EVI2A	protein_coding	OTTHUMT00000354491.3	C	NM_014210	-		29645499	-1	no_errors	ENST00000247270	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29645499	C	G	29645499	3	3	109	1	0	0	0	0	1	0	0	0	5289	913	32	4	181	4	EVI2A	17	29645499	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	28380195	29645499	51549711	84	7276											
TTC25	83538	genome.wustl.edu	37	chr17	40091496	40091496	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccttcaggatggagacaaGaactgcctggttgctcgctc	11	11	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:40091496G>T	ENST00000591658.1	+	0	209							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATGGAGACAAGAACTGCCTGG	0.532																																																	0								ENSG00000204815						62	58	60					17																	40091496		1920	4144	6064	TTC25			0			-	HGNC	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091496G>T		Somatic	0	42	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP							-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499339	0.64298	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.62	4.6	0.57074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.208922	0.46442	D	0.000300	T	0.68879	0.3049	M	0.71296	2.17	0.37155	D	0.902320	B;D	0.52996	0.257;0.957	B;P	0.58577	0.145;0.841	T	0.77885	-0.2421	8	0.62326	D	0.03	-28.275	11.2559	0.49054	0.0705:0.1282:0.8013:0.0	.	47;47	C9JGW6;Q96NG3	.;TTC25_HUMAN	N	47	.	ENSP00000366763:K47N	K	+	3	2	AC091172.1	37345022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.987000	0.49378	2.650000	0.89964	0.655000	0.94253	AAG	-	-		0.532	TTC25-001	KNOWN	basic	processed_transcript	TTC25	processed_transcript	OTTHUMT00000449237.1	G	NM_031421	-		40091496	1	no_errors	ENST00000377540	ensembl	human	known	74_37	rna	SNP	1.000	T	T	40091496	G	T	40091496	1	4	109	0	1	0	0	0	0	0	0	0	16700	933	33	3		3	TTC25	17	40091496	RNA	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	10445997	40091496	41103714	85	7277											
CCDC103	388389	genome.wustl.edu	37	chr17	42978925	42978925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatctgaagccactggagCggaaggataagatgggagga	15	7	1	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:42978925C>T	ENST00000417826.2	+	3	276	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	EFTUD2_ENST00000592576.1_5'Flank|CCDC103_ENST00000410027.1_Missense_Mutation_p.R61W|AC015936.3_ENST00000441312.1_RNA|EFTUD2_ENST00000591382.1_5'Flank|FAM187A_ENST00000331733.4_5'UTR|EFTUD2_ENST00000426333.2_5'Flank|EFTUD2_ENST00000402521.3_5'Flank|CCDC103_ENST00000410006.2_Missense_Mutation_p.R61W|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	61					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				GCCACTGGAGCGGAAGGATAA	0.517																																																	0								ENSG00000167131						150	127	135					17																	42978925		2203	4300	6503	CCDC103	SO:0001583	missense	0			-	HGNC	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.181C>T	17.37:g.42978925C>T	ENSP00000391692:p.Arg61Trp	Somatic	0	67	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	A8K145|B8ZZU0	Missense_Mutation	SNP							NULL	p.R61W	ENST00000417826.2	37	c.181	CCDS11490.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164605	0.78339	.	.	ENSG00000167131	ENST00000357776;ENST00000410027;ENST00000417826;ENST00000410006	T;T;T	0.79033	-1.23;-1.23;-1.23	5.63	3.41	0.39046	.	0.652152	0.12226	U	0.487882	T	0.76018	0.3929	L	0.58810	1.83	0.35278	D	0.781083	D	0.67145	0.996	B	0.43623	0.425	T	0.82244	-0.0553	10	0.87932	D	0	-2.8181	13.5562	0.61761	0.4575:0.5425:0.0:0.0	.	61	Q8IW40	CC103_HUMAN	W	61	ENSP00000350420:R61W;ENSP00000391692:R61W;ENSP00000387252:R61W	ENSP00000350420:R61W	R	+	1	2	CCDC103	40334451	0.606000	0.26949	0.798000	0.32154	0.977000	0.68977	0.665000	0.25083	1.224000	0.43551	0.555000	0.69702	CGG	-	NULL		0.517	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC103	protein_coding	OTTHUMT00000334578.1	C	NM_213607	-		42978925	1	no_errors	ENST00000410006	ensembl	human	known	74_37	missense	SNP	0.742	T	T	42978925	C	T	42978925	3	4	109	1	0	0	0	0	1	0	0	0	2740	759	27	1	187	1	CCDC103	17	42978925	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	2887429	42978925	38216285	86	7278											
MYST2	11143	genome.wustl.edu	37	chr17	47903406	47903406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagttggctccccagaaCgtccactctcagatctgggg	10	12	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:47903406C>T	ENST00000259021.4	+	13	1805	c.1525C>T	c.(1525-1527)Cgt>Tgt	p.R509C	KAT7_ENST00000503935.2_Missense_Mutation_p.R353C|KAT7_ENST00000424009.2_Missense_Mutation_p.R479C|KAT7_ENST00000510819.1_Missense_Mutation_p.R340C|KAT7_ENST00000509773.1_Missense_Mutation_p.R399C|KAT7_ENST00000435742.2_Missense_Mutation_p.R323C|KAT7_ENST00000454930.2_Missense_Mutation_p.R370C|KAT7_ENST00000513980.1_3'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	509	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCCCCAGAACGTCCACTCTC	0.418																																																	0								ENSG00000136504						99	97	98					17																	47903406		2203	4300	6503	KAT7	SO:0001583	missense	0			-	HGNC	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1525C>T	17.37:g.47903406C>T	ENSP00000259021:p.Arg509Cys	Somatic	1	110	0.9		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	37.29	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP							pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.R509C	ENST00000259021.4	37	c.1525	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873448	0.72180	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.88450	2.955	0.80722	D	1	P;B;P;B;P	0.49090	0.838;0.211;0.719;0.424;0.919	B;B;B;B;P	0.45856	0.274;0.081;0.075;0.222;0.495	T	0.81118	-0.1078	9	0.87932	D	0	-12.4457	18.7204	0.91691	0.0:1.0:0.0:0.0	.	472;340;399;370;509	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251	.;.;.;.;KAT7_HUMAN	C	509;370;399;340;479;353;323	.	ENSP00000259021:R509C	R	+	1	0	KAT7	45258405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.930000	0.48924	2.756000	0.94617	0.561000	0.74099	CGT	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.418	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	protein_coding	OTTHUMT00000366032.1	C	NM_007067	-		47903406	1	no_errors	ENST00000259021	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47903406	C	T	47903406	3	4	109	1	0	0	0	0	1	0	0	0	10105	536	19	1	1575	1	MYST2	17	47903406	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	4924481	47903406	33291804	87	7279			2	64		2	2	20	N	C_-	6.07604e-05
MYST2	11143	genome.wustl.edu	37	chr17	47903425	47903426	+	Frame_Shift_Ins	INS	-	-	GC													cgtccactctcagatctgggINSgcttataagctatcgcagtt							TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:47903425_47903426insGC	ENST00000259021.4	+	13	1824_1825	c.1544_1545insGC	c.(1543-1548)gggcttfs	p.L516fs	KAT7_ENST00000503935.2_Frame_Shift_Ins_p.L360fs|KAT7_ENST00000424009.2_Frame_Shift_Ins_p.L486fs|KAT7_ENST00000510819.1_Frame_Shift_Ins_p.L347fs|KAT7_ENST00000509773.1_Frame_Shift_Ins_p.L406fs|KAT7_ENST00000435742.2_Frame_Shift_Ins_p.L330fs|KAT7_ENST00000454930.2_Frame_Shift_Ins_p.L377fs|KAT7_ENST00000513980.1_3'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	516	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCAGATCTGGGGCTTATAAGCT	0.421																																																	0								ENSG00000136504																																			KAT7	SO:0001589	frameshift_variant	0				HGNC	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1545_1546dupGC	17.37:g.47903426_47903427dupGC	ENSP00000259021:p.Leu516fs	Somatic	0	108	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	35	43.55	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Frame_Shift_Ins	INS							pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.L516fs	ENST00000259021.4	37	c.1544_1545	CCDS11554.1	17																																																																																			-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.421	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	protein_coding	OTTHUMT00000366032.1	-	NM_007067			47903426	1	no_errors	ENST00000259021	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.989	GC	GC	47903426	-	GC	47903425	7	5	109	1	0	1	1	0	0	0	0	0	10105	1232	43	0	1594	0	MYST2	17	47903425	Frame_Shift_Ins	INS	-	TCGA-DX-A8BX-01A-11D-A37C-09	19	47903425	33291785	88	7280			2	64		2	2	20	N	C_-	6.07604e-05
DDX5	1655	genome.wustl.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-													tcaagagttctcccaaacttAcagacaatgttttcccagat							TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	ACAG	ACAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Intron	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0								ENSG00000108654																																			DDX5	SO:0001630	splice_region_variant	0				HGNC	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG		Somatic	0	30	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S147fs	ENST00000225792.5	37	c.443_440	CCDS11659.1	17																																																																																			-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	protein_coding	OTTHUMT00000444030.1	ACAG	NM_004396		Frame_Shift_Del	62500102	-1	no_errors	ENST00000225792	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	62500102	ACAG	-	62500099	8	5	109	1	0	1	0	1	0	0	1	0	4369	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-DX-A8BX-01A-11D-A37C-09	14596674	62500099	18695111	89	7281											
WDR7	23335	genome.wustl.edu	37	chr18	54424260	54424260	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgccttcacgcctggggtttGaatgaagtactggatgaagt	13	7	1	3			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr18:54424260G>C	ENST00000254442.3	+	15	2647	c.2436G>C	c.(2434-2436)ttG>ttC	p.L812F	WDR7_ENST00000357574.3_Missense_Mutation_p.L812F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	812					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTGGGGTTTGAATGAAGTAC	0.458																																																	0								ENSG00000091157						176	167	170					18																	54424260		2203	4300	6503	WDR7	SO:0001583	missense	0			-	HGNC	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2436G>C	18.37:g.54424260G>C	ENSP00000254442:p.Leu812Phe	Somatic	0	65	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L812F	ENST00000254442.3	37	c.2436	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222298	0.58560	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.72282	-0.64;-0.56	5.83	2.01	0.26516	.	0.000000	0.64402	D	0.000001	T	0.77870	0.4195	M	0.61703	1.905	0.54753	D	0.999982	D;D	0.89917	1.0;0.998	D;D	0.78314	0.988;0.991	T	0.73678	-0.3907	10	0.51188	T	0.08	.	7.4927	0.27471	0.2014:0.1203:0.6783:0.0	.	812;812	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	F	812;812;137;812	ENSP00000254442:L812F;ENSP00000350187:L812F	ENSP00000254442:L812F	L	+	3	2	WDR7	52575258	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	0.584000	0.23864	0.081000	0.16988	0.655000	0.94253	TTG	-	NULL		0.458	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	protein_coding	OTTHUMT00000256062.1	G		-		54424260	1	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	SNP	1.000	C	C	54424260	G	C	54424260	3	2	109	1	0	0	0	0	1	0	0	0	17327	1281	45	4	2490	4	WDR7	18	54424260	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		54424260	23652988	90	7282											
C19orf21	126353	genome.wustl.edu	37	chr19	758081	758081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggccgggcgtccacacccGactgggtctcggagggtccc	16	15	1	0	rs372474785		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr19:758081G>A	ENST00000215582.6	+	2	1238	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	379					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTCCACACCCGACTGGGTCTC	0.706													G|||	1	0.000199681	0	0	5008	,	,		12358	0		0	False		,,,				2504	0.001																0								ENSG00000099812	G	ASN/ASP	1,4353		0,1,2176	9	11	11		1135	-0.6	0	19		11	1,8549		0,1,4274	no	missense	C19orf21	NM_173481.2	23	0,2,6450	AA,AG,GG		0.0117,0.023,0.0155	probably-damaging	379/680	758081	2,12902	2177	4275	6452	MISP	SO:0001583	missense	0			-	HGNC	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1135G>A	19.37:g.758081G>A	ENSP00000215582:p.Asp379Asn	Somatic	0	37	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26		Missense_Mutation	SNP							NULL	p.D379N	ENST00000215582.6	37	c.1135	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342716	0.24339	2.3E-4	1.17E-4	ENSG00000099812	ENST00000215582	T	0.32023	1.47	4.54	-0.563	0.11778	.	2.041910	0.02376	N	0.078335	T	0.26738	0.0654	M	0.64997	1.995	0.09310	N	1	P	0.37276	0.589	B	0.29663	0.105	T	0.35176	-0.9799	10	0.72032	D	0.01	-7.7437	2.6482	0.04991	0.1759:0.1453:0.5299:0.149	.	379	Q8IVT2	CS021_HUMAN	N	379	ENSP00000215582:D379N	ENSP00000215582:D379N	D	+	1	0	C19orf21	709081	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.069000	0.14552	0.437000	0.26423	-0.500000	0.04577	GAC	-	NULL		0.706	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MISP	protein_coding	OTTHUMT00000457600.2	G	NM_173481	-		758081	1	no_errors	ENST00000215582	ensembl	human	known	74_37	missense	SNP	0.000	A	A	758081	G	A	758081	3	1	109	1	0	0	0	0	1	0	0	0	1915	1058	37	1	1137	1	C19orf21	19	758081	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		758081	58370902	91	7283											
HCST	10870	genome.wustl.edu	37	chr19	36395051	36395051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtctacatcaacatgccaGgcaggggctgaccctcctgc	10	14	2	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr19:36395051G>T	ENST00000246551.4	+	4	385	c.271G>T	c.(271-273)Ggc>Tgc	p.G91C	NFKBID_ENST00000352614.2_5'Flank|HCST_ENST00000437550.2_Missense_Mutation_p.G90C|NFKBID_ENST00000606253.1_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	91					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAACATGCCAGGCAGGGGCTG	0.562																																																	0								ENSG00000126264						126	107	113					19																	36395051		2203	4300	6503	HCST	SO:0001583	missense	0			-	HGNC	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"DNAX-activation protein 10", "kinase assoc pro of ~10kDa"	604089	"phosphoinositide-3-kinase adaptor protein"	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.271G>T	19.37:g.36395051G>T	ENSP00000246551:p.Gly91Cys	Somatic	0	32	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q9UBS1|Q9Y3Y0	Missense_Mutation	SNP							pfam_DAP10	p.G91C	ENST00000246551.4	37	c.271	CCDS32998.1	19	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808497	0.50421	.	.	ENSG00000126264	ENST00000246551;ENST00000437550	.	.	.	4.42	2.23	0.28157	.	0.167728	0.28766	N	0.014203	T	0.53706	0.1813	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.995	D;P	0.64144	0.922;0.785	T	0.37753	-0.9692	8	0.87932	D	0	-0.5889	6.8446	0.23980	0.2173:0.0:0.7827:0.0	.	91;90	Q9UBK5;Q9UBK5-2	HCST_HUMAN;.	C	91;90	.	ENSP00000246551:G91C	G	+	1	0	HCST	41086891	0.012000	0.17670	0.912000	0.35992	0.944000	0.59088	0.805000	0.27112	1.070000	0.40811	0.561000	0.74099	GGC	-	pfam_DAP10		0.562	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HCST	protein_coding	OTTHUMT00000109520.3	G	NM_014266	-		36395051	1	no_errors	ENST00000246551	ensembl	human	known	74_37	missense	SNP	0.078	T	T	36395051	G	T	36395051	3	4	109	1	0	0	0	0	1	0	0	0	7005	1000	35	3	285	3	HCST	19	36395051	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	35636970	36395051	22733932	92	7284											
AXL	558	genome.wustl.edu	37	chr19	41748828	41748828	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccttctcgtggccctggtgGtatgtactgctaggagcagt	14	10	1	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr19:41748828G>C	ENST00000301178.4	+	11	1543	c.1353G>C	c.(1351-1353)tgG>tgC	p.W451C	AXL_ENST00000359092.3_Missense_Mutation_p.W442C|AXL_ENST00000593513.1_Missense_Mutation_p.W183C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	451					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCCCTGGTGGTATGTACTGC	0.562																																																	0								ENSG00000167601						154	122	132					19																	41748828		2203	4300	6503	AXL	SO:0001583	missense	0			-	HGNC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1353G>C	19.37:g.41748828G>C	ENSP00000301178:p.Trp451Cys	Somatic	0	41	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	Q8N5L2|Q9UD27	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W451C	ENST00000301178.4	37	c.1353	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	g	17.46	3.394679	0.62066	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75154	-0.91;-0.85	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.81654	0.4868	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	T	0.81050	-0.1108	10	0.38643	T	0.18	-13.5429	16.3138	0.82906	0.0:0.0:1.0:0.0	.	442;451	P30530-2;P30530	.;UFO_HUMAN	C	451;442	ENSP00000301178:W451C;ENSP00000351995:W442C	ENSP00000301178:W451C	W	+	3	0	AXL	46440668	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.161000	0.71868	2.198000	0.70561	0.650000	0.86243	TGG	-	NULL		0.562	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	G		-		41748828	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	SNP	1.000	C	C	41748828	G	C	41748828	3	2	109	1	0	0	0	0	1	0	0	0	1238	1270	44	4	1395	4	AXL	19	41748828	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	5353777	41748828	17380155	93	7285											
VN1R4	317703	genome.wustl.edu	37	chr19	53770511	53770511	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtttaccaacatgcacacGatccagcacaggagaacaga	8	11	0	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr19:53770511G>T	ENST00000311170.4	-	1	461	c.408C>A	c.(406-408)atC>atA	p.I136I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	136					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACATGCACACGATCCAGCACA	0.473										HNSCC(26;0.072)																																							0								ENSG00000228567						26	20	22					19																	53770511		2203	4297	6500	VN1R4	SO:0001819	synonymous_variant	0			-	HGNC	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.408C>A	19.37:g.53770511G>T		Somatic	0	133	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	140	22.22	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP							pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.I136	ENST00000311170.4	37	c.408	CCDS33099.1	19																																																																																			-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	protein_coding	OTTHUMT00000464287.1	G	NM_173857	-		53770511	-1	no_errors	ENST00000311170	ensembl	human	known	74_37	silent	SNP	0.003	T	T	53770511	G	T	53770511	2	4	109	1	0	0	0	0	0	0	0	1	17187	1048	37	3		3	VN1R4	19	53770511	Silent	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09	12021683	53770511	5358472	94	7286											
ASIP	434	genome.wustl.edu	37	chr20	32848194	32848194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggatggatgtcacccGcttactcctggccaccctgc	10	16	1	0	rs145074053		TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr20:32848194G>A	ENST00000568305.1	+	2	216	c.14G>A	c.(13-15)cGc>cAc	p.R5H	ASIP_ENST00000374954.3_Missense_Mutation_p.R5H|RP4-785G19.5_ENST00000512005.1_RNA			P42127	ASIP_HUMAN	agouti signaling protein	5					adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						GATGTCACCCGCTTACTCCTG	0.582																																																	0								ENSG00000101440	G	HIS/ARG	0,4406		0,0,2203	123	114	117		14	3.2	1	20	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASIP	NM_001672.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	5/133	32848194	1,13005	2203	4300	6503	ASIP	SO:0001583	missense	0			-	HGNC		CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"nonagouti homolog (mouse)"	600201	"agouti (mouse)-signaling protein", "agouti signaling protein, nonagouti homolog (mouse)"	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.14G>A	20.37:g.32848194G>A	ENSP00000454804:p.Arg5His	Somatic	0	52	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	Q3SXL2	Missense_Mutation	SNP							pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom	p.R5H	ENST00000568305.1	37	c.14	CCDS13232.1	20	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760491	0.49468	0.0	1.16E-4	ENSG00000101440	ENST00000374954	T	0.33216	1.42	5.3	3.24	0.37175	.	0.616301	0.16629	N	0.206151	T	0.22936	0.0554	L	0.41415	1.275	0.23162	N	0.998198	B	0.15473	0.013	B	0.06405	0.002	T	0.15037	-1.0451	10	0.59425	D	0.04	-4.6937	6.5837	0.22609	0.2141:0.0:0.7859:0.0	.	5	P42127	ASIP_HUMAN	H	5	ENSP00000364092:R5H	ENSP00000364092:R5H	R	+	2	0	ASIP	32311855	0.058000	0.20735	0.966000	0.40874	0.928000	0.56348	0.839000	0.27586	1.482000	0.48325	0.650000	0.86243	CGC	-	NULL		0.582	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ASIP	protein_coding	OTTHUMT00000430541.1	G		rs145074053		32848194	1	no_errors	ENST00000374954	ensembl	human	known	74_37	missense	SNP	0.668	A	A	32848194	G	A	32848194	3	1	109	1	0	0	0	0	1	0	0	0	1043	1087	38	1	16	1	ASIP	20	32848194	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		32848194	30177326	95	7287											
IFT52	51098	genome.wustl.edu	37	chr20	42275584	42275584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcatccaggaacatgaCatcgatacaagtgaaacagc	7	11	2	2			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr20:42275584C>T	ENST00000373030.3	+	14	1405	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Silent_p.D425D	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	425					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGGAACATGACATCGATACAA	0.358																																																	0								ENSG00000101052						163	153	157					20																	42275584		2203	4300	6503	IFT52	SO:0001819	synonymous_variant	0			-	HGNC	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1275C>T	20.37:g.42275584C>T		Somatic	0	81	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	60	26.83	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP							pfam_ABC_transp_unknown	p.D425	ENST00000373030.3	37	c.1275	CCDS33470.1	20																																																																																			-	NULL		0.358	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	protein_coding	OTTHUMT00000079317.1	C	NM_016004	-		42275584	1	no_errors	ENST00000373030	ensembl	human	known	74_37	silent	SNP	0.349	T	T	42275584	C	T	42275584	2	4	109	1	0	0	0	0	0	0	0	1	7563	477	17	2		2	IFT52	20	42275584	Silent	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	9427390	42275584	20749936	96	7288											
PRPF6	57473	genome.wustl.edu	37	chr20	62614400	62614400	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgggggtctcctgcagCgccactggcttcaccacgcg	13	15	3	0			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr20:62614400C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Splice_Site_p.G24G			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCCTGCAGCGCCACTGGCT	0.562																																																	0								ENSG00000101161						35	33	34					20																	62614400		2203	4300	6503	PRPF6	SO:0001627	intron_variant	0			-	HGNC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-15092G>A	20.37:g.62614400C>T		Somatic	0	44	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	Q08AK9|Q9ULM4	Silent	SNP							pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.G24	ENST00000450537.1	37	c.72	CCDS13548.1	20																																																																																			-	pfam_PRP1_N		0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	protein_coding	OTTHUMT00000080246.1	C	NM_020713	-		62614400	1	no_errors	ENST00000266079	ensembl	human	known	74_37	silent	SNP	0.848	T	T	62614400	C	T	62614400	1	4	109	0	1	0	0	0	0	0	0	0	12579	782	27	1		1	PRPF6	20	62614400	Intron	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09	20338816	62614400	411120	97	7289											
KRTAP13-3	337960	genome.wustl.edu	37	chr21	31797893	31797893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaggagcagctcctggatCcacagctcagggagcagcag	15	11	1	1			TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr21:31797893C>T	ENST00000390690.2	-	1	393	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	113						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTCCTGGATCCACAGCTCAG	0.502																																																	0								ENSG00000240432						44	48	47					21																	31797893		2136	4283	6419	KRTAP13-3	SO:0001583	missense	0			-	HGNC	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.338G>A	21.37:g.31797893C>T	ENSP00000375109:p.Gly113Glu	Somatic	0	34	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	Q3LI78	Missense_Mutation	SNP							pfam_KRTAP_PMG	p.G113E	ENST00000390690.2	37	c.338	CCDS13591.1	21	.	.	.	.	.	.	.	.	.	.	c	15.28	2.787835	0.49997	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.03386	3.95	4.54	3.65	0.41850	.	0.175712	0.26293	U	0.025203	T	0.13970	0.0338	M	0.83774	2.66	0.09310	N	1	P	0.49447	0.924	P	0.57468	0.821	T	0.02037	-1.1225	10	0.72032	D	0.01	-5.4913	9.1497	0.36955	0.0:0.8944:0.0:0.1056	.	113	Q3SY46	KR133_HUMAN	E	113;103	ENSP00000375109:G113E	ENSP00000375109:G113E	G	-	2	0	KRTAP13-3	30719764	0.021000	0.18746	0.052000	0.19188	0.002000	0.02628	3.191000	0.50981	1.206000	0.43276	-0.237000	0.12165	GGA	-	pfam_KRTAP_PMG		0.502	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	protein_coding	OTTHUMT00000128228.2	C		-		31797893	-1	no_errors	ENST00000390690	ensembl	human	known	74_37	missense	SNP	0.026	T	T	31797893	C	T	31797893	3	4	109	1	0	0	0	0	1	0	0	0	8526	855	30	2	184	2	KRTAP13-3	21	31797893	Missense_Mutation	SNP	C	TCGA-DX-A8BX-01A-11D-A37C-09		31797893	16332002	98	7290											
TRIOBP	11078	genome.wustl.edu	37	chr22	38120154	38120154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccccagaacatcctgcGcccagcgggacaatcccaga	8	17	0	2	rs201112075	byFrequency	TCGA-DX-A8BX-01A-11D-A37C-09	TCGA-DX-A8BX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6670f59-bd1e-4405-98f5-351e9e4ddf11	fc8335fb-7cb7-4553-8701-b16e1bfc3a14	g.chr22:38120154G>A	ENST00000406386.3	+	7	1846	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	531					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACATCCTGCGCCCAGCGGGA	0.597													-|||	29	0.00579073	8e-04	0.0303	5008	,	,		29059	0.0069		0	False		,,,				2504	0																0								ENSG00000100106						76	121	106					22																	38120154		1942	4169	6111	TRIOBP	SO:0001583	missense	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1591G>A	22.37:g.38120154G>A	ENSP00000384312:p.Ala531Thr	Somatic	0	165	0		0.560365890845302				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	129	20.12	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A531T	ENST00000406386.3	37	c.1591	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	-	2.979	-0.210711	0.06140	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19250	2.16	3.17	-2.72	0.05968	.	.	.	.	.	T	0.12008	0.0292	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30563	-0.9974	9	0.49607	T	0.09	.	6.7719	0.23598	0.6323:0.0:0.3677:0.0	.	531	Q9H2D6	TARA_HUMAN	T	531	ENSP00000384312:A531T	ENSP00000384312:A531T	A	+	1	0	TRIOBP	36450100	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.532000	0.00220	-0.265000	0.09352	-0.763000	0.03452	GCC	-	NULL		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G		rs201112075		38120154	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	SNP	0.000	A	A	38120154	G	A	38120154	3	1	109	1	0	0	0	0	1	0	0	0	16560	1087	38	1	1609	1	TRIOBP	22	38120154	Missense_Mutation	SNP	G	TCGA-DX-A8BX-01A-11D-A37C-09		38120154	13184412	99	7291											
PRDM16	63976	genome.wustl.edu	37	chr1	3342727	3342727	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagactcttatttctcGgaaatcagaaactttattgc	6	7	3	3	rs541306513	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:3342727G>T	ENST00000270722.5	+	14	3271	c.3222G>T	c.(3220-3222)tcG>tcT	p.S1074S	PRDM16_ENST00000378398.3_Silent_p.S1074S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.S1074S|PRDM16_ENST00000511072.1_Silent_p.S1075S|PRDM16_ENST00000441472.2_Silent_p.S1073S|PRDM16_ENST00000514189.1_Silent_p.S1074S|PRDM16_ENST00000442529.2_Silent_p.S1073S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1074	Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		CTTATTTCTCGGAAATCAGAA	0.517			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								ENSG00000142611						96	103	101					1																	3342727		1960	4140	6100	PRDM16	SO:0001819	synonymous_variant	0			-	HGNC	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.3222G>T	1.37:g.3342727G>T		Somatic	0	83	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	38	54.22	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S1074	ENST00000270722.5	37	c.3222	CCDS41236.2	1																																																																																			-	NULL		0.517	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	G	NM_022114	-		3342727	1	no_errors	ENST00000270722	ensembl	human	known	74_37	silent	SNP	0.254	T	T	3342727	G	T	3342727	2	4	110	1	0	0	0	0	0	0	0	1	12462	1103	39	3		3	PRDM16	1	3342727	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		3342727	245907894	1	7292											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16045048	16045048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaatgccctggtctgCagccacgatcacctgacgct	11	14	2	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:16045048C>T	ENST00000375799.3	+	5	620	c.393C>T	c.(391-393)tgC>tgT	p.C131C	PLEKHM2_ENST00000375793.2_Silent_p.C131C	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	131	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCCTGGTCTGCAGCCACGATC	0.547																																																	0								ENSG00000116786						53	59	57					1																	16045048		2015	4175	6190	PLEKHM2	SO:0001819	synonymous_variant	0			-	HGNC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.393C>T	1.37:g.16045048C>T		Somatic	0	26	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP							pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.C131	ENST00000375799.3	37	c.393	CCDS44063.1	1																																																																																			-	pfam_Run,smart_Run,pfscan_Run		0.547	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	protein_coding	OTTHUMT00000008463.1	C	NM_015164	-		16045048	1	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	SNP	1.000	T	T	16045048	C	T	16045048	2	4	110	1	0	0	0	0	0	0	0	1	12083	718	25	2		2	PLEKHM2	1	16045048	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	12702321	16045048	233205573	2	7293											
CSMD2	114784	genome.wustl.edu	37	chr1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagacacacctttgcagaCgggcttggttccattccatg	9	14	0	2	rs139840174		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		20872	0		0	False		,,,				2504	0																0								ENSG00000121904	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167	156	159		9016	3.5	0.9	1	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CSMD2	NM_052896.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	3006/3488	34006739	3,13003	2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9448G>A	1.37:g.34006739C>T	ENSP00000362479:p.Val3150Ile	Somatic	0	75	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	30.16	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V3150I	ENST00000373381.4	37	c.9448		1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316893	0.23908	2.27E-4	2.33E-4	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.45	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.328480	0.28360	N	0.015635	T	0.44664	0.1304	N	0.25485	0.75	0.58432	D	0.999992	B;B	0.10296	0.003;0.003	B;B	0.15484	0.013;0.009	T	0.34551	-0.9824	10	0.38643	T	0.18	.	6.9309	0.24442	0.0:0.7042:0.1433:0.1525	.	3006;3150	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	3150	ENSP00000362479:V3150I	ENSP00000241312:V3006I	V	-	1	0	CSMD2	33779326	0.525000	0.26290	0.855000	0.33649	0.875000	0.50365	0.980000	0.29513	1.311000	0.45024	0.455000	0.32223	GTC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		C	NM_052896	rs139840174		34006739	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	0.683	T	T	34006739	C	T	34006739	3	4	110	1	0	0	0	0	1	0	0	0	3947	536	19	1	1495	1	CSMD2	1	34006739	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	17961691	34006739	215243882	3	7294											
MSH4	4438	genome.wustl.edu	37	chr1	76276463	76276463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggaattccaccaagTtgttcactctgatcacagaa	9	10	3	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:76276463T>C	ENST00000263187.3	+	4	774	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	224					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCCACCAAGTTGTTCACTCT	0.279								Mismatch excision repair (MMR)																																									0								ENSG00000057468						74	75	75					1																	76276463		2203	4297	6500	MSH4	SO:0001819	synonymous_variant	0			-	HGNC	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.670T>C	1.37:g.76276463T>C		Somatic	0	66	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65	Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.L224	ENST00000263187.3	37	c.670	CCDS670.1	1																																																																																			-	pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	protein_coding	OTTHUMT00000026983.1	T	NM_002440	-		76276463	1	no_errors	ENST00000263187	ensembl	human	known	74_37	silent	SNP	1.000	C	C	76276463	T	C	76276463	2	2	110	1	0	0	0	0	0	0	0	1	9874	1722	60	5		5	MSH4	1	76276463	Silent	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09	42269724	76276463	172974158	4	7295											
GBP2	2634	genome.wustl.edu	37	chr1	89583433	89583433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaggagtttgccttgattCgatctgtcagctctgtcaca	11	9	4	2	rs140765409		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:89583433C>T	ENST00000370466.3	-	5	720	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	151	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGCCTTGATTCGATCTGTCAG	0.388																																																	0								ENSG00000162645	C	GLN/ARG	0,4406		0,0,2203	57	52	54		452	-4.6	0	1	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GBP2	NM_004120.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	151/592	89583433	1,13005	2203	4300	6503	GBP2	SO:0001583	missense	0			-	HGNC	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.452G>A	1.37:g.89583433C>T	ENSP00000359497:p.Arg151Gln	Somatic	0	26	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.R151Q	ENST00000370466.3	37	c.452	CCDS719.1	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789668	0.31685	0.0	1.16E-4	ENSG00000162645	ENST00000370466	T	0.61510	0.1	3.66	-4.62	0.03370	Guanylate-binding protein, N-terminal (1);	0.895600	0.09365	U	0.812257	T	0.22704	0.0548	L	0.60957	1.885	0.09310	N	1	P	0.49559	0.925	B	0.37692	0.256	T	0.17899	-1.0354	10	0.30854	T	0.27	-15.008	5.2564	0.15550	0.512:0.3065:0.0:0.1815	.	151	P32456	GBP2_HUMAN	Q	151	ENSP00000359497:R151Q	ENSP00000359497:R151Q	R	-	2	0	GBP2	89356021	0.000000	0.05858	0.002000	0.10522	0.227000	0.25037	-1.631000	0.02026	-0.704000	0.05042	-0.300000	0.09419	CGA	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.388	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	protein_coding	OTTHUMT00000029406.2	C	NM_004120	rs140765409		89583433	-1	no_errors	ENST00000370466	ensembl	human	known	74_37	missense	SNP	0.009	T	T	89583433	C	T	89583433	3	4	110	1	0	0	0	0	1	0	0	0	6276	884	31	1	1351	1	GBP2	1	89583433	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	13306970	89583433	159667188	5	7296											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110034210	110034210	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaagaagcggaaaaacctGgccacttattgccggccagt	11	12	0	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:110034210G>T	ENST00000369870.3	+	10	2040	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	675										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAAAAACCTGGCCACTTATT	0.642																																																	0								ENSG00000162650						32	36	35					1																	110034210		2203	4299	6502	ATXN7L2	SO:0001819	synonymous_variant	0			-	HGNC	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2025G>T	1.37:g.110034210G>T		Somatic	0	39	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Silent	SNP							pfam_SCA7_dom	p.L675	ENST00000369870.3	37	c.2025	CCDS30794.1	1																																																																																			-	NULL		0.642	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	protein_coding	OTTHUMT00000030331.1	G	NM_153340	-		110034210	1	no_errors	ENST00000369870	ensembl	human	known	74_37	silent	SNP	1.000	T	T	110034210	G	T	110034210	2	4	110	1	0	0	0	0	0	0	0	1	1217	1335	47	3		3	ATXN7L2	1	110034210	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	20450777	110034210	139216411	6	7297											
SPTA1	6708	genome.wustl.edu	37	chr1	158583576	158583576	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatcctcctccaccatGggcaagtagtaattgagtcc	8	12	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:158583576G>T	ENST00000368147.4	-	50	7104	c.6924C>A	c.(6922-6924)ccC>ccA	p.P2308P	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2308					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCCACCATGGGCAAGTAGT	0.493																																																	0								ENSG00000163554						67	65	66					1																	158583576		1906	4128	6034	SPTA1	SO:0001819	synonymous_variant	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6924C>A	1.37:g.158583576G>T		Somatic	0	52	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.P2308	ENST00000368147.4	37	c.6924	CCDS41423.1	1																																																																																			-	NULL		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	G	NM_003126	-		158583576	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	SNP	1.000	T	T	158583576	G	T	158583576	2	4	110	1	0	0	0	0	0	0	0	1	15123	1335	47	3		3	SPTA1	1	158583576	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	48549366	158583576	90667045	7	7298											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T													atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|RP11-175B9.2_ENST00000602961.1_RNA	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0								ENSG00000077157																																			PPP1R12B	SO:0001627	intron_variant	0				HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT		Somatic	0	24	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			-	NULL		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	-	NM_032105			202407190	1	no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	110	0	1	1	1	0	0	0	0	0	12360	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-DX-A8BZ-01A-11D-A37C-09	43823613	202407189	46843432	8	7299											
SLC26A9	115019	genome.wustl.edu	37	chr1	205898419	205898419	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaccaggaaggcaccgctGatgagagcgaagatgagcga	15	9	0	4			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:205898419G>T	ENST00000367135.3	-	7	896	c.783C>A	c.(781-783)atC>atA	p.I261I	SLC26A9_ENST00000340781.4_Silent_p.I261I|SLC26A9_ENST00000367134.2_Silent_p.I261I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	261					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGCACCGCTGATGAGAGCGA	0.532																																																	0								ENSG00000174502						186	172	177					1																	205898419		2203	4300	6503	SLC26A9	SO:0001819	synonymous_variant	0			-	HGNC	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.783C>A	1.37:g.205898419G>T		Somatic	0	47	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I261	ENST00000367135.3	37	c.783	CCDS30990.1	1																																																																																			-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.532	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	protein_coding	OTTHUMT00000087742.1	G	NM_052934	-		205898419	-1	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	SNP	1.000	T	T	205898419	G	T	205898419	2	4	110	1	0	0	0	0	0	0	0	1	14532	1280	45	3		3	SLC26A9	1	205898419	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	3491230	205898419	43352202	9	7300											
E2F6	1876	genome.wustl.edu	37	chr2	11593912	11593912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaaaacgaggtctcttcActtttagagcttctgggaaa	8	9	4	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:11593912A>G	ENST00000381525.3	-	3	445	c.176T>C	c.(175-177)gTg>gCg	p.V59A	E2F6_ENST00000362009.4_Missense_Mutation_p.V59A|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_5'UTR|E2F6_ENST00000307236.4_Missense_Mutation_p.V27A	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	59					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGTCTCTTCACTTTTAGAGC	0.323																																																	0								ENSG00000169016						39	37	38					2																	11593912		1798	4067	5865	E2F6	SO:0001583	missense	0			-	HGNC	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.176T>C	2.37:g.11593912A>G	ENSP00000370936:p.Val59Ala	Somatic	0	40	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP							pfam_E2F_TDP	p.V59A	ENST00000381525.3	37	c.176	CCDS1680.2	2	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091272	0.36855	.	.	ENSG00000169016	ENST00000381525;ENST00000362009;ENST00000307236	D;D;D	0.90197	-2.63;-2.63;-2.63	5.56	4.41	0.53225	.	0.600559	0.17542	N	0.170513	T	0.81341	0.4802	L	0.27053	0.805	0.38353	D	0.944398	B;B	0.29432	0.04;0.244	B;B	0.22753	0.013;0.041	T	0.74931	-0.3496	9	.	.	.	-12.5716	6.9971	0.24789	0.7957:0.0:0.0717:0.1326	.	59;27	O75461;G5E936	E2F6_HUMAN;.	A	59;59;27	ENSP00000370936:V59A;ENSP00000355036:V59A;ENSP00000302159:V27A	.	V	-	2	0	E2F6	11511363	0.996000	0.38824	1.000000	0.80357	0.749000	0.42624	0.867000	0.27968	0.952000	0.37798	0.455000	0.32223	GTG	-	NULL		0.323	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	protein_coding	OTTHUMT00000207101.2	A	NM_001952	-		11593912	-1	no_errors	ENST00000381525	ensembl	human	known	74_37	missense	SNP	1.000	G	G	11593912	A	G	11593912	3	3	110	1	0	0	0	0	1	0	0	0	4873	159	6	5	689	5	E2F6	2	11593912	Missense_Mutation	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09		11593912	231605461	10	7301											
NRBP1	29959	genome.wustl.edu	37	chr2	27656657	27656658	+	Frame_Shift_Ins	INS	-	-	A													acgcaagaactacaagctgcINSaggaggtaggtgatgctgaa							TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:27656657_27656658insA	ENST00000233557.3	+	4	1160_1161	c.328_329insA	c.(328-330)cagfs	p.Q110fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.Q110fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.Q110fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTACAAGCTGCAGGAGGTAGGT	0.49																																																	0								ENSG00000115216																																			NRBP1	SO:0001589	frameshift_variant	0				HGNC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.329dupA	2.37:g.27656658_27656658dupA	ENSP00000233557:p.Gln110fs	Somatic	0	54	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E111fs	ENST00000233557.3	37	c.328_329	CCDS1753.1	2																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.49	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	protein_coding	OTTHUMT00000215033.1	-	NM_013392			27656658	1	no_errors	ENST00000233557	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	27656658	-	A	27656657	7	5	110	1	0	1	1	0	0	0	0	0	10644	711	25	0	334	0	NRBP1	2	27656657	Frame_Shift_Ins	INS	-	TCGA-DX-A8BZ-01A-11D-A37C-09	16062745	27656657	215542716	11	7302											
SULT6B1	391365	genome.wustl.edu	37	chr2	37406711	37406711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgtatctttagggtttCgaaatatcaccaatatctag	7	8	3	0	rs11569744	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:37406711C>T	ENST00000535679.1	-	4	418	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R102Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R102Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	140						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.R102>?(1)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTTAGGGTTTCGAAATATCAC	0.358													C|||	4	0.000798722	0.003	0	5008	,	,		19100	0		0	False		,,,				2504	0																2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|lung(1)						ENSG00000138068	C	GLN/ARG	27,4379	27.2+/-55.0	0,27,2176	101	101	101		305	3.4	1	2	dbSNP_126	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SULT6B1	NM_001032377.1	43	0,29,6474	TT,TC,CC		0.0233,0.6128,0.223	probably-damaging	102/266	37406711	29,12977	2203	4300	6503	SULT6B1	SO:0001583	missense	0			-	HGNC	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.419G>A	2.37:g.37406711C>T	ENSP00000444081:p.Arg140Gln	Somatic	0	37	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	B2RTS7	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R140Q	ENST00000535679.1	37	c.419		2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021097	0.75275	0.006128	2.33E-4	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.69040	-0.37;-0.37;-0.37	4.27	3.39	0.38822	Sulfotransferase domain (1);	0.066755	0.64402	D	0.000016	D	0.84502	0.5486	H	0.98965	4.385	0.50039	D	0.999846	D	0.89917	1.0	D	0.97110	1.0	D	0.89281	0.3612	10	0.87932	D	0	.	11.513	0.50504	0.0:0.9092:0.0:0.0908	rs11569744;rs45566432;rs11569744	140	Q6IMI4	ST6B1_HUMAN	Q	140;102;102	ENSP00000444081:R140Q;ENSP00000260637:R102Q;ENSP00000384950:R102Q	ENSP00000260637:R102Q	R	-	2	0	SULT6B1	37260215	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.121000	0.50438	1.152000	0.42452	0.561000	0.74099	CGA	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.358	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	protein_coding		C	NM_001032377	rs11569744		37406711	-1	no_errors	ENST00000535679	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37406711	C	T	37406711	3	4	110	1	0	0	0	0	1	0	0	0	15391	884	31	1	508	1	SULT6B1	2	37406711	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	9750054	37406711	205792662	12	7303											
ZAP70	7535	genome.wustl.edu	37	chr2	98340859	98340859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgactgcctgcgagaCgccatggtgcgtgactacgt	13	12	1	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:98340859C>T	ENST00000264972.5	+	3	575	c.360C>T	c.(358-360)gaC>gaT	p.D120D	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	120	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTGCGAGACGCCATGGTGC	0.726																																																	0								ENSG00000115085						5	6	6					2																	98340859		2012	3995	6007	ZAP70	SO:0001819	synonymous_variant	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.360C>T	2.37:g.98340859C>T		Somatic	0	14	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D120	ENST00000264972.5	37	c.360	CCDS33254.1	2																																																																																			-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.726	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	C		-		98340859	1	no_errors	ENST00000264972	ensembl	human	known	74_37	silent	SNP	0.911	T	T	98340859	C	T	98340859	2	4	110	1	0	0	0	0	0	0	0	1	17521	535	19	1		1	ZAP70	2	98340859	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	60934148	98340859	144858514	13	7304											
RNF149	284996	genome.wustl.edu	37	chr2	101893720	101893720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaggagatgggtcctccatGccgagagtcactcctgccgg	13	13	1	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:101893720G>T	ENST00000295317.3	-	7	1290	c.1183C>A	c.(1183-1185)Cat>Aat	p.H395N		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	395					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GGTCCTCCATGCCGAGAGTCA	0.463																																					Colon(25;331 612 6521 7355 31028)												0								ENSG00000163162						48	48	48					2																	101893720		2203	4300	6503	RNF149	SO:0001583	missense	0			-	HGNC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1183C>A	2.37:g.101893720G>T	ENSP00000295317:p.His395Asn	Somatic	0	31	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H395N	ENST00000295317.3	37	c.1183	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	G	3.762	-0.049445	0.07407	.	.	ENSG00000163162	ENST00000295317	T	0.08102	3.13	4.65	1.82	0.25136	.	1.231620	0.05622	N	0.580108	T	0.05640	0.0148	N	0.14661	0.345	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.42716	-0.9435	10	0.36615	T	0.2	.	5.0445	0.14477	0.1932:0.1721:0.6347:0.0	.	395	Q8NC42	RN149_HUMAN	N	395	ENSP00000295317:H395N	ENSP00000295317:H395N	H	-	1	0	RNF149	101260152	0.017000	0.18338	0.009000	0.14445	0.003000	0.03518	1.306000	0.33505	0.149000	0.19098	-0.251000	0.11542	CAT	-	NULL		0.463	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	protein_coding	OTTHUMT00000253180.2	G	NM_173647	-		101893720	-1	no_errors	ENST00000295317	ensembl	human	known	74_37	missense	SNP	0.001	T	T	101893720	G	T	101893720	3	4	110	1	0	0	0	0	1	0	0	0	13458	1319	46	3	23	3	RNF149	2	101893720	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	3552861	101893720	141305653	14	7305											
PDE1A	5136	genome.wustl.edu	37	chr2	183095805	183095805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcataaacttcagactatgCtctccacttgcttcatttag	4	11	4	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:183095805C>T	ENST00000410103.1	-	6	602	c.519G>A	c.(517-519)gaG>gaA	p.E173E	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.E157E|PDE1A_ENST00000358139.2_Silent_p.E173E|PDE1A_ENST00000435564.1_Silent_p.E173E|PDE1A_ENST00000536095.1_Silent_p.E69E|PDE1A_ENST00000331935.6_Silent_p.E173E|PDE1A_ENST00000346717.4_Silent_p.E139E|PDE1A_ENST00000409365.1_Silent_p.E157E|PDE1A_ENST00000456212.1_Silent_p.E173E	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	173					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCAGACTATGCTCTCCACTTG	0.333																																																	0								ENSG00000115252						136	137	137					2																	183095805		2203	4299	6502	PDE1A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.519G>A	2.37:g.183095805C>T		Somatic	0	50	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E173	ENST00000410103.1	37	c.519	CCDS33344.1	2																																																																																			-	NULL		0.333	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	protein_coding	OTTHUMT00000334356.1	C		-		183095805	-1	no_errors	ENST00000456212	ensembl	human	known	74_37	silent	SNP	0.207	T	T	183095805	C	T	183095805	2	4	110	1	0	0	0	0	0	0	0	1	11635	796	28	2		2	PDE1A	2	183095805	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	81202085	183095805	60103568	15	7306											
INHA	3623	genome.wustl.edu	37	chr2	220439577	220439577	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggacaggcagggcacagcaGcctccaatagctctgagccc	12	14	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:220439577G>C	ENST00000243786.2	+	2	610	c.430G>C	c.(430-432)Gcc>Ccc	p.A144P	OBSL1_ENST00000491370.1_5'Flank|INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	144					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCACAGCAGCCTCCAATAG	0.642																																																	0								ENSG00000123999						37	34	35					2																	220439577		2203	4300	6503	INHA	SO:0001583	missense	0			-	HGNC		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.430G>C	2.37:g.220439577G>C	ENSP00000243786:p.Ala144Pro	Somatic	0	61	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	A8K8H5	Missense_Mutation	SNP							pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.A144P	ENST00000243786.2	37	c.430	CCDS2444.1	2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668777	0.29604	.	.	ENSG00000123999	ENST00000243786	D	0.85955	-2.05	4.84	-0.212	0.13169	.	0.671044	0.14541	N	0.313264	T	0.81908	0.4922	M	0.84683	2.71	0.20074	N	0.999937	B	0.22983	0.078	B	0.23018	0.043	T	0.71896	-0.4454	10	0.51188	T	0.08	-1.9687	1.5452	0.02563	0.2071:0.119:0.4293:0.2446	.	144	P05111	INHA_HUMAN	P	144	ENSP00000243786:A144P	ENSP00000243786:A144P	A	+	1	0	INHA	220147821	0.000000	0.05858	0.071000	0.20095	0.970000	0.65996	0.105000	0.15333	-0.245000	0.09625	0.561000	0.74099	GCC	-	pirsf_Inhibin_asu_subgr		0.642	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	protein_coding	OTTHUMT00000131425.1	G		-		220439577	1	no_errors	ENST00000243786	ensembl	human	known	74_37	missense	SNP	0.065	C	C	220439577	G	C	220439577	3	2	110	1	0	0	0	0	1	0	0	0	7742	971	34	4	436	4	INHA	2	220439577	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	37343772	220439577	22759796	16	7307											
USP4	7375	genome.wustl.edu	37	chr3	49373013	49373013	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccactgcttgaaccaccGgctgtcaataagatacctag	7	13	1	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:49373013G>T	ENST00000265560.4	-	2	164	c.118C>A	c.(118-120)Cgg>Agg	p.R40R	USP4_ENST00000416417.1_Silent_p.R40R|USP4_ENST00000415188.1_Silent_p.R40R|USP4_ENST00000351842.4_Silent_p.R40R	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	40	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGAACCACCGGCTGTCAATA	0.423																																																	0								ENSG00000114316						108	101	103					3																	49373013		2203	4300	6503	USP4	SO:0001819	synonymous_variant	0			-	HGNC	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.118C>A	3.37:g.49373013G>T		Somatic	0	34	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP							pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.R40	ENST00000265560.4	37	c.118	CCDS2793.1	3																																																																																			-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.423	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	protein_coding	OTTHUMT00000346069.1	G	NM_199443	-		49373013	-1	no_errors	ENST00000265560	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49373013	G	T	49373013	2	4	110	1	0	0	0	0	0	0	0	1	17078	1115	39	3		3	USP4	3	49373013	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		49373013	148649417	17	7308											
BSN	8927	genome.wustl.edu	37	chr3	49690071	49690071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgcaaggcccggcacCgctcccacgggcccctgcta	12	19	0	0	rs147015088		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:49690071C>T	ENST00000296452.4	+	5	3196	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1028					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)		GGCCCGGCACCGCTCCCACGG	0.642													C|||	1	0.000199681	0	0	5008	,	,		18713	0		0	False		,,,				2504	0.001																0								ENSG00000164061	C	CYS/ARG	0,4406		0,0,2203	29	33	31		3082	5	1	3	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1028/3927	49690071	1,13005	2203	4300	6503	BSN	SO:0001583	missense	0			-	HGNC	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.3082C>T	3.37:g.49690071C>T	ENSP00000296452:p.Arg1028Cys	Somatic	0	48	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	O43161|Q7LGH3	Missense_Mutation	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R1028C	ENST00000296452.4	37	c.3082	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410617	0.42715	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.37584	1.19	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.71656	0.974	T	0.66288	-0.5961	10	0.87932	D	0	.	15.4324	0.75112	0.0:0.8609:0.1391:0.0	.	1028	Q9UPA5	BSN_HUMAN	C	1028	ENSP00000296452:R1028C	ENSP00000296452:R1028C	R	+	1	0	BSN	49665075	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.921000	0.56454	2.330000	0.79161	0.561000	0.74099	CGC	-	NULL		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	C	NM_003458	rs147015088		49690071	1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49690071	C	T	49690071	3	4	110	1	0	0	0	0	1	0	0	0	1532	652	23	1	3100	1	BSN	3	49690071	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	317058	49690071	148332359	18	7309											
ZNF80	7634	genome.wustl.edu	37	chr3	113955740	113955740	+	Frame_Shift_Del	DEL	T	T	-													gatgtcgaacaaggaggctgTttttgttaaacacgctccca							TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:113955740delT	ENST00000482457.2	-	1	685	c.182delA	c.(181-183)aacfs	p.N61fs	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	61					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(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AAGGAGGCTGTTTTTGTTAAA	0.473																																					GBM(23;986 1114 21716)												0								ENSG00000174255						120	104	109					3																	113955740		2203	4300	6503	ZNF80	SO:0001589	frameshift_variant	0				HGNC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.182delA	3.37:g.113955740delT	ENSP00000417192:p.Asn61fs	Somatic	0	33	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q6NSW4|Q6NT14	Frame_Shift_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N61fs	ENST00000482457.2	37	c.182	CCDS2979.1	3																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	protein_coding	OTTHUMT00000354696.2	T	NM_007136			113955740	-1	no_errors	ENST00000308095	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	113955740	T	-	113955740	7	5	110	1	0	1	0	1	0	0	0	0	18175	1725	60	0	643	0	ZNF80	3	113955740	Frame_Shift_Del	DEL	T	TCGA-DX-A8BZ-01A-11D-A37C-09	64265669	113955740	84066690	19	7310											
ASTE1	28990	genome.wustl.edu	37	chr3	130743806	130743806	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcccggatgagtaagggAcatacgtacccactcccacc	8	15	0	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:130743806A>G	ENST00000264992.3	-	3	786	c.345T>C	c.(343-345)tgT>tgC	p.C115C	NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000511262.1_5'Flank|ASTE1_ENST00000514044.1_Silent_p.C115C|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	115					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGAGTAAGGGACATACGTACC	0.443																																																	0								ENSG00000034533						109	102	104					3																	130743806		2203	4300	6503	ASTE1	SO:0001819	synonymous_variant	0			-	HGNC	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.345T>C	3.37:g.130743806A>G		Somatic	0	39	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP							pfam_XPG_DNA_repair_N	p.C115	ENST00000264992.3	37	c.345	CCDS3068.1	3																																																																																			-	NULL		0.443	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	A	NM_014065	-		130743806	-1	no_errors	ENST00000264992	ensembl	human	known	74_37	silent	SNP	0.064	G	G	130743806	A	G	130743806	2	3	110	1	0	0	0	0	0	0	0	1	1062	273	10	5		5	ASTE1	3	130743806	Silent	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09	16788066	130743806	67278624	20	7311											
ABCF3	55324	genome.wustl.edu	37	chr3	183910980	183910980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgccagcctgtctggggGccagaagagccgagtggcct	15	12	2	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:183910980G>A	ENST00000429586.2	+	19	2026	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	ABCF3_ENST00000292808.5_Missense_Mutation_p.G608D|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	614	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGTCTGGGGGCCAGAAGAGC	0.597																																																	0								ENSG00000161204						82	79	80					3																	183910980		2203	4300	6503	ABCF3	SO:0001583	missense	0			-	HGNC	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1841G>A	3.37:g.183910980G>A	ENSP00000411471:p.Gly614Asp	Somatic	0	59	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G614D	ENST00000429586.2	37	c.1841	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676219	0.88445	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.99382	-5.8;-5.8	5.1	5.1	0.69264	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96658	0.9487	10	0.87932	D	0	-24.089	17.6935	0.88275	0.0:0.0:1.0:0.0	.	608;614	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	D	614;608	ENSP00000411471:G614D;ENSP00000292808:G608D	ENSP00000292808:G608D	G	+	2	0	ABCF3	185393674	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.601000	0.98297	2.650000	0.89964	0.563000	0.77884	GGC	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	protein_coding	OTTHUMT00000346047.1	G	NM_018358	-		183910980	1	no_errors	ENST00000429586	ensembl	human	known	74_37	missense	SNP	1.000	A	A	183910980	G	A	183910980	3	1	110	1	0	0	0	0	1	0	0	0	67	1203	42	2	1915	2	ABCF3	3	183910980	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	53167174	183910980	14111450	21	7312											
ANKRD50	57182	genome.wustl.edu	37	chr4	125631194	125631194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctctcgcactccccaGgctgtaagaggctttggact	11	12	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:125631194G>T	ENST00000504087.1	-	2	1510	c.473C>A	c.(472-474)cCt>cAt	p.P158H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	158										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCACTCCCCAGGCTGTAAGAG	0.428																																																	0								ENSG00000151458						65	70	68					4																	125631194		2203	4300	6503	ANKRD50	SO:0001583	missense	0			-	HGNC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.473C>A	4.37:g.125631194G>T	ENSP00000425658:p.Pro158His	Somatic	0	71	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P158H	ENST00000504087.1	37	c.473	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287320	0.40494	.	.	ENSG00000151458	ENST00000504087	T	0.17854	2.25	5.3	5.3	0.74995	.	0.061099	0.64402	D	0.000003	T	0.38799	0.1054	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.08554	-1.0716	10	0.59425	D	0.04	.	18.9472	0.92626	0.0:0.0:1.0:0.0	.	158	Q9ULJ7	ANR50_HUMAN	H	158	ENSP00000425658:P158H	ENSP00000425658:P158H	P	-	2	0	ANKRD50	125850644	1.000000	0.71417	0.811000	0.32455	0.009000	0.06853	7.405000	0.80007	2.482000	0.83794	0.462000	0.41574	CCT	-	NULL		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	protein_coding	OTTHUMT00000364775.1	G	NM_020337	-		125631194	-1	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	SNP	0.998	T	T	125631194	G	T	125631194	3	4	110	1	0	0	0	0	1	0	0	0	677	1000	35	3	3828	3	ANKRD50	4	125631194	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		125631194	65523082	22	7313											
CLGN	1047	genome.wustl.edu	37	chr4	141331038	141331038	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcatctttctttgcttttGataagacccatctgtaaata	5	8	4	2	rs202031051		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:141331038G>T	ENST00000325617.5	-	4	670	c.230C>A	c.(229-231)tCa>tAa	p.S77*	CLGN_ENST00000414773.1_Nonsense_Mutation_p.S77*|CLGN_ENST00000537281.1_Nonsense_Mutation_p.S77*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	77					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.S77*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTTGCTTTTGATAAGACCCA	0.289																																																	1	Substitution - Nonsense(1)	breast(1)						ENSG00000153132						72	76	75					4																	141331038		2202	4292	6494	CLGN	SO:0001587	stop_gained	0			-	HGNC	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.230C>A	4.37:g.141331038G>T	ENSP00000326699:p.Ser77*	Somatic	0	45	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B3KS90|B4DXV8|D3DNY8	Nonsense_Mutation	SNP							pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.S77*	ENST00000325617.5	37	c.230	CCDS3751.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.021082	0.98006	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000509477	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9251	19.9534	0.97211	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000326699:S77X	S	-	2	0	CLGN	141550488	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.637000	0.91014	2.880000	0.98712	0.650000	0.86243	TCA	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf		0.289	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	protein_coding	OTTHUMT00000257272.2	G	NM_004362	rs202031051		141331038	-1	no_errors	ENST00000325617	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	141331038	G	T	141331038	4	4	110	1	0	0	0	0	0	1	0	0	3526	1294	45	3	1650	3	CLGN	4	141331038	Nonsense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	15699844	141331038	49823238	23	7314											
ABCE1	6059	genome.wustl.edu	37	chr4	146031349	146031349	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgacctaaaagccaTcatcaaacctcaatatgtag	6	9	3	3			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:146031349T>A	ENST00000296577.4	+	6	1015	c.500T>A	c.(499-501)aTc>aAc	p.I167N	OTUD4_ENST00000455611.2_5'Flank|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	167	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CTAAAAGCCATCATCAAACCT	0.358																																																	0								ENSG00000164163						78	84	82					4																	146031349		2203	4299	6502	ABCE1	SO:0001583	missense	0			-	HGNC	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.500T>A	4.37:g.146031349T>A	ENSP00000296577:p.Ile167Asn	Somatic	0	64	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP							pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.I167N	ENST00000296577.4	37	c.500	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139696	0.77775	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.94280	-3.39	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.51422	1.61	0.80722	D	1	P	0.41420	0.749	P	0.46389	0.515	D	0.93312	0.6685	10	0.54805	T	0.06	-47.5896	16.3786	0.83431	0.0:0.0:0.0:1.0	.	167	P61221	ABCE1_HUMAN	N	167	ENSP00000296577:I167N	ENSP00000296577:I167N	I	+	2	0	ABCE1	146250799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.323000	0.78572	0.528000	0.53228	ATC	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E		0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	protein_coding	OTTHUMT00000365104.1	T	NM_002940	-		146031349	1	no_errors	ENST00000296577	ensembl	human	known	74_37	missense	SNP	1.000	A	A	146031349	T	A	146031349	3	1	110	1	0	0	0	0	1	0	0	0	64	1435	50	5	518	5	ABCE1	4	146031349	Missense_Mutation	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09	4700311	146031349	45122927	24	7315											
ITGA1	3672	genome.wustl.edu	37	chr5	52183738	52183738	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagagtctcatgacaatcatCgactgaagaaggtcatccaa	9	9	3	4			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:52183738C>A	ENST00000282588.6	+	8	1323	c.865C>A	c.(865-867)Cga>Aga	p.R289R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	289	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACAATCATCGACTGAAGAA	0.428																																																	0								ENSG00000213949						123	115	118					5																	52183738		2203	4300	6503	ITGA1	SO:0001819	synonymous_variant	0			-	HGNC	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.865C>A	5.37:g.52183738C>A		Somatic	0	42	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B2RNU0	Silent	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R289	ENST00000282588.6	37	c.865	CCDS3955.1	5																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	protein_coding	OTTHUMT00000253855.3	C	NM_181501	-		52183738	1	no_errors	ENST00000282588	ensembl	human	known	74_37	silent	SNP	0.000	A	A	52183738	C	A	52183738	2	1	110	1	0	0	0	0	0	0	0	1	7874	876	31	3		3	ITGA1	5	52183738	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09		52183738	128731522	25	7316											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101794149	101794149	+	Frame_Shift_Del	DEL	A	A	-													agatctttaagtctgctgtcAaaaaaatgaagctgtttacg							TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:101794149delA	ENST00000506729.1	-	6	1239	c.1068delT	c.(1066-1068)tttfs	p.F356fs	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Frame_Shift_Del_p.F294fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Del_p.F356fs|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)		GTCTGCTGTCAAAAAAATGAA	0.299																																																	0								ENSG00000205359						141	141	141					5																	101794149		2202	4298	6500	SLCO6A1	SO:0001589	frameshift_variant	0				HGNC	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.1068delT	5.37:g.101794149delA	ENSP00000421339:p.Phe356fs	Somatic	0	41	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Frame_Shift_Del	DEL							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.F356fs	ENST00000506729.1	37	c.1068	CCDS34206.1	5																																																																																			-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.299	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	protein_coding	OTTHUMT00000370335.1	A	NM_173488			101794149	-1	no_errors	ENST00000379807	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	101794149	A	-	101794149	7	5	110	1	0	1	0	1	0	0	0	0	14740	127	5	0	1123	0	SLCO6A1	5	101794149	Frame_Shift_Del	DEL	A	TCGA-DX-A8BZ-01A-11D-A37C-09	49610411	101794149	79121111	26	7317											
GIN1	54826	genome.wustl.edu	37	chr5	102432377	102432377	+	Frame_Shift_Del	DEL	C	C	-													gtctatgacacaaggaccaaCccattcagactgaaaacgac					rs74391316		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:102432377delC	ENST00000399004.2	-	7	1256	c.1162delG	c.(1162-1164)gttfs	p.V388fs	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	388					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CAAGGACCAACCCATTCAGAC	0.393																																																	0								ENSG00000145723						253	239	243					5																	102432377		1866	4104	5970	GIN1	SO:0001589	frameshift_variant	0				HGNC	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1162delG	5.37:g.102432377delC	ENSP00000381970:p.Val388fs	Somatic	0	81	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Frame_Shift_Del	DEL							pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.V388fs	ENST00000399004.2	37	c.1162	CCDS43349.1	5																																																																																			-	NULL		0.393	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	protein_coding	OTTHUMT00000370478.3	C	NM_017676			102432377	-1	no_errors	ENST00000399004	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	102432377	C	-	102432377	7	5	110	1	0	1	0	1	0	0	0	0	6388	507	18	0	414	0	GIN1	5	102432377	Frame_Shift_Del	DEL	C	TCGA-DX-A8BZ-01A-11D-A37C-09	638228	102432377	78482883	27	7318											
NDST1	3340	genome.wustl.edu	37	chr5	149901311	149901311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggcctacggcgtgggCatcattggcttcttcaaggt	14	9	3	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:149901311C>T	ENST00000261797.6	+	2	997	c.495C>T	c.(493-495)ggC>ggT	p.G165G	NDST1_ENST00000523767.1_Silent_p.G165G	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	165	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGCGTGGGCATCATTGGCT	0.537																																																	0								ENSG00000070614						85	86	86					5																	149901311		2203	4300	6503	NDST1	SO:0001819	synonymous_variant	0			-	HGNC	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.495C>T	5.37:g.149901311C>T		Somatic	0	51	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q96E57	Silent	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G165	ENST00000261797.6	37	c.495	CCDS34277.1	5																																																																																			-	pfam_Heparan_SO4_deacetylase		0.537	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	protein_coding	OTTHUMT00000374314.2	C	NM_001543	-		149901311	1	no_errors	ENST00000261797	ensembl	human	known	74_37	silent	SNP	1.000	T	T	149901311	C	T	149901311	2	4	110	1	0	0	0	0	0	0	0	1	10257	697	25	2		2	NDST1	5	149901311	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	47468934	149901311	31013949	28	7319											
RGL2	5863	genome.wustl.edu	37	chr6	33263137	33263137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgaagcctgtggatgggGctggactgcagggctgacac	17	11	0	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:33263137G>A	ENST00000497454.1	-	8	1578	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	RGL2_ENST00000444031.2_Silent_p.S279S|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	361	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTGGATGGGGCTGGACTGCA	0.627																																																	0								ENSG00000237441						21	23	22					6																	33263137		2200	4299	6499	RGL2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1083C>T	6.37:g.33263137G>A		Somatic	0	53	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	31	44.64	B4DG72|Q5STK0|Q9Y3F3	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S361	ENST00000497454.1	37	c.1083	CCDS4774.1	6																																																																																			-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.627	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	protein_coding	OTTHUMT00000076098.2	G		-		33263137	-1	no_errors	ENST00000497454	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33263137	G	A	33263137	2	1	110	1	0	0	0	0	0	0	0	1	13285	1194	42	2		2	RGL2	6	33263137	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		33263137	137851930	29	7320											
DNAH8	1769	genome.wustl.edu	37	chr6	38794123	38794123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagccttgtcttgcataCgtgataatgaaattcaaatg	9	6	2	2	rs368700966		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:38794123C>T	ENST00000359357.3	+	27	3642	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1347C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1130C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1130					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCTTGCATACGTGATAATGA	0.294																																																	0								ENSG00000124721	C	CYS/ARG	0,4406		0,0,2203	104	102	103		4039	5.4	1	6		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH8	NM_001206927.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1347/4708	38794123	1,13005	2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3388C>T	6.37:g.38794123C>T	ENSP00000352312:p.Arg1130Cys	Somatic	0	38	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1130C	ENST00000359357.3	37	c.3388		6	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433328	0.83776	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.30448	1.6;1.6;1.53	5.44	5.44	0.79542	.	0.116044	0.64402	D	0.000014	T	0.56108	0.1963	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63950	-0.6521	10	0.87932	D	0	.	17.516	0.87773	0.0:1.0:0.0:0.0	.	1130	Q96JB1	DYH8_HUMAN	C	1335;1335;1130;1130	ENSP00000333363:R1335C;ENSP00000352312:R1130C;ENSP00000402294:R1130C	ENSP00000333363:R1335C	R	+	1	0	DNAH8	38902101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.846000	0.69444	2.587000	0.87381	0.545000	0.68477	CGT	-	NULL		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	C	NM_001206927	-		38794123	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38794123	C	T	38794123	3	4	110	1	0	0	0	0	1	0	0	0	4609	536	19	1	3486	1	DNAH8	6	38794123	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	5530986	38794123	132320944	30	7321											
CAPN11	11131	genome.wustl.edu	37	chr6	44147871	44147871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgacttcctgcttcgGgtcttcaccgagaagcacag	11	12	2	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:44147871G>A	ENST00000398776.1	+	14	1649	c.1611G>A	c.(1609-1611)cgG>cgA	p.R537R	CAPN11_ENST00000542245.1_Silent_p.R537R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	537	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCTGCTTCGGGTCTTCACCG	0.582																																																	0								ENSG00000137225						30	30	30					6																	44147871		2068	4225	6293	CAPN11	SO:0001819	synonymous_variant	0			-	HGNC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1611G>A	6.37:g.44147871G>A		Somatic	0	28	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B2RA64|Q5T3G1|Q8N4R5	Silent	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R537	ENST00000398776.1	37	c.1611	CCDS47436.1	6																																																																																			-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease		0.582	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	protein_coding	OTTHUMT00000040714.3	G		-		44147871	1	no_errors	ENST00000398776	ensembl	human	known	74_37	silent	SNP	0.103	A	A	44147871	G	A	44147871	2	1	110	1	0	0	0	0	0	0	0	1	2626	1219	43	2		2	CAPN11	6	44147871	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	5353748	44147871	126967196	31	7322											
DST	667	genome.wustl.edu	37	chr6	56485078	56485078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttttaagatgatcttccaGtgttcgtctggtaaaggtgt	10	6	3	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:56485078G>T	ENST00000370765.6	-	23	3861	c.3754C>A	c.(3754-3756)Ctg>Atg	p.L1252M	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					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)			TGATCTTCCAGTGTTCGTCTG	0.393																																																	0								ENSG00000151914						75	80	78					6																	56485078		2203	4300	6503	DST	SO:0001583	missense	0			-	HGNC	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.3754C>A	6.37:g.56485078G>T	ENSP00000359801:p.Leu1252Met	Somatic	0	25	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	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							pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L1252M	ENST00000370765.6	37	c.3754	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103160	0.20632	.	.	ENSG00000151914	ENST00000370765	T	0.35789	1.29	4.6	0.539	0.17156	.	.	.	.	.	T	0.38054	0.1026	.	.	.	0.22842	N	0.99867	D	0.67145	0.996	D	0.66979	0.948	T	0.27191	-1.0081	7	0.40728	T	0.16	.	9.9758	0.41783	0.3925:0.0:0.6075:0.0	.	1252	Q03001-3	.	M	1252	ENSP00000359801:L1252M	ENSP00000359801:L1252M	L	-	1	2	DST	56593037	0.998000	0.40836	0.252000	0.24328	0.324000	0.28378	2.670000	0.46833	0.207000	0.20607	-1.012000	0.02466	CTG	-	NULL		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041027.2	G	NM_001723	-		56485078	-1	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	SNP	0.018	T	T	56485078	G	T	56485078	3	4	110	1	0	0	0	0	1	0	0	0	4785	1020	36	3	16649	3	DST	6	56485078	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	12337207	56485078	114629989	32	7323											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62757843	62757843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttagcacctgtttcttcCtgtagcctcttcaaggagtt	7	10	3	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:62757843C>T	ENST00000281156.4	-	3	554	c.276G>A	c.(274-276)caG>caA	p.Q92Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	92	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTGTTTCTTCCTGTAGCCTCT	0.373																																																	0								ENSG00000112232						171	161	164					6																	62757843		2203	4300	6503	KHDRBS2	SO:0001819	synonymous_variant	0			-	HGNC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.276G>A	6.37:g.62757843C>T		Somatic	0	46	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.Q92	ENST00000281156.4	37	c.276	CCDS4963.1	6																																																																																			-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.373	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	protein_coding	OTTHUMT00000041066.2	C	NM_152688	-		62757843	-1	no_errors	ENST00000281156	ensembl	human	known	74_37	silent	SNP	1.000	T	T	62757843	C	T	62757843	2	4	110	1	0	0	0	0	0	0	0	1	8149	680	24	2		2	KHDRBS2	6	62757843	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	6272765	62757843	108357224	33	7324											
BAI3	577	genome.wustl.edu	37	chr6	69684656	69684656	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtttaaaattgcagcAccttatgaaatatgccctga	6	9	0	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:69684656A>T	ENST00000370598.1	+	9	2348	c.1527A>T	c.(1525-1527)gcA>gcT	p.A509A		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	509					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATTGCAGCACCTTATGAAA	0.408																																																	0								ENSG00000135298						98	94	95					6																	69684656		2203	4300	6503	BAI3	SO:0001630	splice_region_variant	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1526-1A>T	6.37:g.69684656A>T		Somatic	0	40	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A509	ENST00000370598.1	37	c.1527	CCDS4968.1	6																																																																																			-	pfscan_GPCR_2_extracellular_dom		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	A		-	Silent	69684656	1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	SNP	0.999	T	T	69684656	A	T	69684656	5	4	110	1	0	0	0	0	0	0	1	0	1300	173	6	5	1553	5	BAI3	6	69684656	Splice_Site	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09	6926813	69684656	101430411	34	7325											
TTK	7272	genome.wustl.edu	37	chr6	80721152	80721152	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaaaatttttacagcAtctacggtattaactgccca	5	9	2	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:80721152A>T	ENST00000369798.2	+	6	726	c.615A>T	c.(613-615)gcA>gcT	p.A205A	TTK_ENST00000230510.3_Splice_Site_p.A205A|TTK_ENST00000509894.1_Splice_Site_p.A205A	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	205					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTTTACAGCATCTACGGTAT	0.313																																																	0								ENSG00000112742						42	43	42					6																	80721152		2199	4297	6496	TTK	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.614-1A>T	6.37:g.80721152A>T		Somatic	0	59	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A205	ENST00000369798.2	37	c.615	CCDS4993.1	6																																																																																			-	NULL		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	protein_coding	OTTHUMT00000041316.2	A		-	Silent	80721152	1	no_errors	ENST00000369798	ensembl	human	known	74_37	silent	SNP	0.058	T	T	80721152	A	T	80721152	5	4	110	1	0	0	0	0	0	0	1	0	16727	231	8	5	633	5	TTK	6	80721152	Splice_Site	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09	11036496	80721152	90393915	35	7326											
SNX14	57231	genome.wustl.edu	37	chr6	86224338	86224338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcattatttttaaacagatCattgaaaagctaaaataaaa	4	4	1	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:86224338C>T	ENST00000314673.3	-	24	2454	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	SNX14_ENST00000505648.1_Missense_Mutation_p.D708N|SNX14_ENST00000346348.3_Missense_Mutation_p.D707N|SNX14_ENST00000369627.2_Missense_Mutation_p.D751N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.D479N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	760					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTAAACAGATCATTGAAAAGC	0.308																																																	0								ENSG00000135317						82	85	84					6																	86224338		2203	4294	6497	SNX14	SO:0001583	missense	0			-	HGNC	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2278G>A	6.37:g.86224338C>T	ENSP00000313121:p.Asp760Asn	Somatic	0	32	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP							pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.D760N	ENST00000314673.3	37	c.2278	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479704	0.44044	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.32753	1.84;1.83;1.44;1.82;1.82;1.85	5.66	5.66	0.87406	.	0.095596	0.64402	D	0.000001	T	0.19805	0.0476	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.15930	0.015;0.007;0.005;0.015	B;B;B;B	0.13407	0.009;0.009;0.004;0.009	T	0.01982	-1.1235	10	0.49607	T	0.09	-21.5255	19.7532	0.96277	0.0:1.0:0.0:0.0	.	751;707;760;708	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	N	707;217;760;479;708;751;678;125	ENSP00000257769:D707N;ENSP00000313121:D760N;ENSP00000420938:D479N;ENSP00000427380:D708N;ENSP00000358641:D751N;ENSP00000425630:D678N	ENSP00000313121:D760N	D	-	1	0	SNX14	86281057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.682000	0.91365	0.650000	0.86243	GAT	-	NULL		0.308	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	protein_coding	OTTHUMT00000041393.2	C	NM_153816	-		86224338	-1	no_errors	ENST00000314673	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86224338	C	T	86224338	3	4	110	1	0	0	0	0	1	0	0	0	14893	826	29	2	586	2	SNX14	6	86224338	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	5503186	86224338	84890729	36	7327											
ENPP3	5169	genome.wustl.edu	37	chr6	131997878	131997878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaccctattttttcagaaGtgtcccatttgaagagagga	8	8	2	3			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:131997878G>T	ENST00000414305.1	+	11	1203	c.875G>T	c.(874-876)aGt>aTt	p.S292I	ENPP3_ENST00000357639.3_Missense_Mutation_p.S292I|ENPP3_ENST00000358229.5_Missense_Mutation_p.S292I|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	292	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTTTCAGAAGTGTCCCATTT	0.363																																																	0								ENSG00000154269						80	79	79					6																	131997878		2203	4300	6503	ENPP3	SO:0001583	missense	0			-	HGNC	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.875G>T	6.37:g.131997878G>T	ENSP00000406261:p.Ser292Ile	Somatic	0	50	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q5JTL3	Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.S292I	ENST00000414305.1	37	c.875	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738976	0.49045	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.73681	-0.77;-0.77;-0.77	4.84	2.87	0.33458	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.490245	0.17837	N	0.160337	D	0.83622	0.5294	M	0.89534	3.04	0.22827	N	0.998682	D	0.71674	0.998	D	0.77004	0.989	T	0.76424	-0.2964	10	0.66056	D	0.02	-6.7314	13.688	0.62529	0.0:0.6965:0.3035:0.0	.	292	O14638	ENPP3_HUMAN	I	292	ENSP00000406261:S292I;ENSP00000350265:S292I;ENSP00000350964:S292I	ENSP00000350265:S292I	S	+	2	0	ENPP3	132039571	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.093000	0.11111	1.171000	0.42768	0.549000	0.68633	AGT	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	protein_coding	OTTHUMT00000043627.2	G		-		131997878	1	no_errors	ENST00000357639	ensembl	human	known	74_37	missense	SNP	0.001	T	T	131997878	G	T	131997878	3	4	110	1	0	0	0	0	1	0	0	0	5133	1029	36	3	913	3	ENPP3	6	131997878	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	45773540	131997878	39117189	37	7328											
ABCA13	154664	genome.wustl.edu	37	chr7	48414001	48414001	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttattacattcctggaaGgacaagagacaggtaagagc	10	6	0	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr7:48414001G>T	ENST00000435803.1	+	34	11215	c.11191G>T	c.(11191-11193)Gga>Tga	p.G3731*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3731					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCCTGGAAGGACAAGAGAC	0.403																																																	0								ENSG00000179869						84	79	80					7																	48414001		1898	4114	6012	ABCA13	SO:0001587	stop_gained	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11191G>T	7.37:g.48414001G>T	ENSP00000411096:p.Gly3731*	Somatic	0	36	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G3731*	ENST00000435803.1	37	c.11191	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	53	20.798490	0.99934	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.51	5.51	0.81932	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.3053	0.54898	0.0805:0.0:0.9195:0.0	.	.	.	.	X	3731	.	ENSP00000411096:G3731X	G	+	1	0	ABCA13	48384547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.666000	0.46799	2.736000	0.93811	0.655000	0.94253	GGA	-	NULL		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48414001	1	no_errors	ENST00000435803	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48414001	G	T	48414001	4	4	110	1	0	0	0	0	0	1	0	0	31	1001	35	3	11154	3	ABCA13	7	48414001	Nonsense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		48414001	110724662	38	7329											
PTK2	5747	genome.wustl.edu	37	chr8	141754753	141754753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatgactgtatcttacctGtgtacaaatcttttgctctc	5	9	3	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr8:141754753G>T	ENST00000522684.1	-	19	1861	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q	PTK2_ENST00000395218.2_Missense_Mutation_p.H544Q|PTK2_ENST00000535192.1_Missense_Mutation_p.H544Q|PTK2_ENST00000340930.3_Missense_Mutation_p.H544Q|PTK2_ENST00000517887.1_Missense_Mutation_p.H588Q|PTK2_ENST00000521059.1_Missense_Mutation_p.H544Q|PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000538769.1_Missense_Mutation_p.H212Q|PTK2_ENST00000519419.1_Missense_Mutation_p.H588Q|PTK2_ENST00000519465.1_Missense_Mutation_p.H172Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TATCTTACCTGTGTACAAATC	0.408																																																	0								ENSG00000169398						134	121	126					8																	141754753		2203	4300	6503	PTK2	SO:0001583	missense	0			-	HGNC	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1632C>A	8.37:g.141754753G>T	ENSP00000429911:p.His544Gln	Somatic	0	42	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H544Q	ENST00000522684.1	37	c.1632	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.383392|4.383392	0.82792|0.82792	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86|.	5.38|5.38	4.38|4.38	0.52667|0.52667	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87712|0.87712	0.6246|0.6246	H|H	0.99834|0.99834	4.825|4.825	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.966;1.0;0.999;1.0;0.999;1.0;0.998;1.0;1.0|.	D;P;D;D;D;D;D;D;D;D|.	0.85130|.	0.943;0.906;0.992;0.922;0.992;0.915;0.995;0.995;0.997;0.996|.	D|D	0.87643|0.87643	0.2523|0.2523	10|5	0.87932|.	D|.	0|.	.|.	3.4657|3.4657	0.07549|0.07549	0.3666:0.0:0.6333:0.0|0.3666:0.0:0.6333:0.0	.|.	544;239;464;544;566;544;496;392;212;172|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	Q|K	544;544;172;588;544;496;544;465;239;216;544;212;588;242;390|555	ENSP00000429911:H544Q;ENSP00000438009:H544Q;ENSP00000429170:H172Q;ENSP00000429082:H588Q;ENSP00000429474:H544Q;ENSP00000378644:H544Q;ENSP00000428492:H216Q;ENSP00000341189:H544Q;ENSP00000445742:H212Q;ENSP00000429129:H588Q;ENSP00000430603:H242Q|.	ENSP00000341189:H544Q|.	H|Q	-|-	3|1	2|0	PTK2|PTK2	141823935|141823935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	6.217000|6.217000	0.72218|0.72218	2.524000|2.524000	0.85096|0.85096	0.591000|0.591000	0.81541|0.81541	CAC|CAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.408	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	protein_coding	OTTHUMT00000378054.5	G	NM_005607	-		141754753	-1	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141754753	G	T	141754753	3	4	110	1	0	0	0	0	1	0	0	0	12768	1368	48	3	1582	3	PTK2	8	141754753	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		141754753	4609269	39	7330											
PARP10	84875	genome.wustl.edu	37	chr8	145057487	145057487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaacactcacaccatggCaccgctccaggcgagcacgc	11	17	1	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr8:145057487C>T	ENST00000313028.7	-	8	2364	c.2270G>A	c.(2269-2271)tGc>tAc	p.C757Y	PARP10_ENST00000525773.1_Missense_Mutation_p.C769Y|PARP10_ENST00000524918.1_Missense_Mutation_p.C748Y|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	757	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACACCATGGCACCGCTCCAG	0.701																																																	0								ENSG00000178685						26	26	26					8																	145057487		2201	4298	6499	PARP10	SO:0001583	missense	0			-	HGNC	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2270G>A	8.37:g.145057487C>T	ENSP00000325618:p.Cys757Tyr	Somatic	0	57	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.C757Y	ENST00000313028.7	37	c.2270	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	6.377	0.437697	0.12104	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.09911	2.93;2.93;2.93	5.11	4.1	0.47936	.	0.365001	0.23756	N	0.044864	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	1	B;B	0.22480	0.07;0.07	B;B	0.23018	0.043;0.043	T	0.24870	-1.0148	10	0.26408	T	0.33	.	8.3081	0.32055	0.0:0.851:0.0:0.149	.	769;757	E9PNI7;Q53GL7	.;PAR10_HUMAN	Y	748;463;757;769	ENSP00000431620:C748Y;ENSP00000325618:C757Y;ENSP00000434776:C769Y	ENSP00000325618:C757Y	C	-	2	0	PARP10	145129475	0.000000	0.05858	0.050000	0.19076	0.014000	0.08584	0.150000	0.16263	2.397000	0.81536	0.546000	0.68486	TGC	-	NULL		0.701	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	protein_coding	OTTHUMT00000383866.1	C	NM_032789	-		145057487	-1	no_errors	ENST00000313028	ensembl	human	known	74_37	missense	SNP	0.010	T	T	145057487	C	T	145057487	3	4	110	1	0	0	0	0	1	0	0	0	11457	710	25	2	823	2	PARP10	8	145057487	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	3302734	145057487	1306535	40	7331											
RCL1	10171	genome.wustl.edu	37	chr9	4849484	4849484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaccaaagcctggcgcTactactcatgacccttggac	8	15	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr9:4849484T>C	ENST00000381750.4	+	8	1128	c.905T>C	c.(904-906)cTa>cCa	p.L302P	MIR101-2_ENST00000362195.2_RNA|RP11-125K10.5_ENST00000443970.1_RNA|RCL1_ENST00000381728.1_Missense_Mutation_p.L116P|RCL1_ENST00000381730.1_Missense_Mutation_p.L116P|RCL1_ENST00000448872.2_Missense_Mutation_p.L116P	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	302					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AGCCTGGCGCTACTACTCATG	0.448																																																	0								ENSG00000120158						147	123	131					9																	4849484		2203	4300	6503	RCL1	SO:0001583	missense	0			-	HGNC	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.905T>C	9.37:g.4849484T>C	ENSP00000371169:p.Leu302Pro	Somatic	0	52	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP							pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	p.L302P	ENST00000381750.4	37	c.905	CCDS6456.1	9	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234607	0.58886	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.8	5.8	0.92144	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (4);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.93898	3.47	0.80722	D	1	D;D	0.63880	0.993;0.992	D;D	0.71184	0.972;0.943	D	0.89389	0.3687	9	0.87932	D	0	-12.5712	14.7139	0.69254	0.0:0.0:0.0:1.0	.	116;302	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	P	302;144;116;116;116;116	.	ENSP00000371147:L116P	L	+	2	0	RCL1	4839484	1.000000	0.71417	0.185000	0.23176	0.201000	0.24016	7.717000	0.84732	2.209000	0.71365	0.460000	0.39030	CTA	-	pfam_RNA3'_phos_cyclase_dom,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2		0.448	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCL1	protein_coding	OTTHUMT00000051587.1	T	NM_005772	-		4849484	1	no_errors	ENST00000381750	ensembl	human	known	74_37	missense	SNP	0.999	C	C	4849484	T	C	4849484	3	2	110	1	0	0	0	0	1	0	0	0	13186	1522	53	5	935	5	RCL1	9	4849484	Missense_Mutation	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09		4849484	136363947	41	7332											
KCNT1	402381	genome.wustl.edu	37	chr9	138594181	138594181	+	5'Flank	DEL	C	C	-													cgggggctacaccaaccggaCcttcgagtttgacgacggcc					rs143015526	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr9:138594181delC	ENST00000298466.5	-	0	0				KCNT1_ENST00000298480.5_Frame_Shift_Del_p.T26fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.T26fs|SOHLH1_ENST00000425225.1_5'Flank|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.T26fs	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCAACCGGACCTTCGAGTTT	0.731																																																	0								ENSG00000107147						21	26	25					9																	138594181		2199	4297	6496	KCNT1	SO:0001631	upstream_gene_variant	0				HGNC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915		9.37:g.138594181delC	Exception_encountered	Somatic	0	37	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Frame_Shift_Del	DEL							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.F27fs	ENST00000298466.5	37	c.77	CCDS35174.1	9																																																																																			-	NULL		0.731	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNT1	protein_coding	OTTHUMT00000055018.2	C	NM_001012415			138594181	1	no_errors	ENST00000298480	ensembl	human	known	74_37	frame_shift_del	DEL	0.889	-	-	138594181	C	-	138594181	6	5	110	0	1	1	0	1	0	0	0	0	8093	507	18	0		0	KCNT1	9	138594181	5'Flank	DEL	C	TCGA-DX-A8BZ-01A-11D-A37C-09	133744697	138594181	2619250	42	7333											
GPRIN2	9721	genome.wustl.edu	37	chr10	47000213	47000213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcatgcagtccctgCggcgccccagctgctgcggc	15	16	1	0	rs201166086	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr10:47000213C>T	ENST00000374317.1	+	3	1606	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R445W	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	445										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCAGTCCCTGCGGCGCCCCAG	0.716													C|||	2	0.000399361	0	0	5008	,	,		29686	0.002		0	False		,,,				2504	0																0								ENSG00000204175						11	11	11					10																	47000213		2144	4155	6299	GPRIN2	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1333C>T	10.37:g.47000213C>T	ENSP00000363436:p.Arg445Trp	Somatic	0	44	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q5SVF0	Missense_Mutation	SNP							NULL	p.R445W	ENST00000374317.1	37	c.1333	CCDS31192.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.955069	0.73902	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.31769	1.48;1.48	5.11	0.114	0.14639	.	0.000000	0.40064	N	0.001196	T	0.51975	0.1706	M	0.77820	2.39	0.45822	D	0.998694	D	0.89917	1.0	D	0.69824	0.966	T	0.59311	-0.7478	10	0.87932	D	0	-18.1752	13.2117	0.59828	0.724:0.276:0.0:0.0	.	445	O60269	GRIN2_HUMAN	W	445	ENSP00000363436:R445W;ENSP00000363433:R445W	ENSP00000363433:R445W	R	+	1	2	GPRIN2	46420219	0.995000	0.38212	0.796000	0.32109	0.992000	0.81027	0.634000	0.24614	0.219000	0.20840	0.561000	0.74099	CGG	-	NULL		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	protein_coding	OTTHUMT00000047836.1	C	NM_014696	rs201166086		47000213	1	no_errors	ENST00000374314	ensembl	human	known	74_37	missense	SNP	0.724	T	T	47000213	C	T	47000213	3	4	110	1	0	0	0	0	1	0	0	0	6732	759	27	1	1335	1	GPRIN2	10	47000213	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09		47000213	88534534	43	7334											
PHRF1	57661	genome.wustl.edu	37	chr11	591456	591456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaatttggtggtaaaAtcttaagaaaggtgagtgtg	13	3	2	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:591456A>G	ENST00000264555.5	+	5	621	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	PHRF1_ENST00000533464.1_Missense_Mutation_p.I161V|PHRF1_ENST00000416188.2_Missense_Mutation_p.I165V|PHRF1_ENST00000413872.2_Missense_Mutation_p.I164V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	165					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGGTGGTAAAATCTTAAGAAA	0.473																																																	0								ENSG00000070047						105	98	100					11																	591456		1962	4162	6124	PHRF1	SO:0001583	missense	0			-	HGNC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.493A>G	11.37:g.591456A>G	ENSP00000264555:p.Ile165Val	Somatic	0	37	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.I165V	ENST00000264555.5	37	c.493		11	.	.	.	.	.	.	.	.	.	.	A	5.210	0.224280	0.09863	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.75704	-0.96;-0.94;-0.94;-0.94	4.04	-2.36	0.06663	Zinc finger, FYVE/PHD-type (1);	0.739110	0.11044	N	0.605800	T	0.56202	0.1969	L	0.32530	0.975	0.32325	N	0.561946	B;B;B;B	0.18166	0.015;0.026;0.026;0.015	B;B;B;B	0.15484	0.006;0.013;0.013;0.006	T	0.53143	-0.8480	10	0.07482	T	0.82	-10.8606	10.4185	0.44335	0.5181:0.0:0.4819:0.0	.	161;164;165;165	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	165;164;165;161	ENSP00000264555:I165V;ENSP00000388589:I164V;ENSP00000410626:I165V;ENSP00000431870:I161V	ENSP00000264555:I165V	I	+	1	0	PHRF1	581456	0.995000	0.38212	0.595000	0.28798	0.403000	0.30841	0.339000	0.19875	-0.368000	0.08040	-0.500000	0.04577	ATC	-	superfamily_Znf_FYVE_PHD		0.473	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	protein_coding	OTTHUMT00000382133.1	A	NM_020901	-		591456	1	no_errors	ENST00000264555	ensembl	human	known	74_37	missense	SNP	0.682	G	G	591456	A	G	591456	3	3	110	1	0	0	0	0	1	0	0	0	11863	101	4	5	507	5	PHRF1	11	591456	Missense_Mutation	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09		591456	134415060	44	7335											
F2	2147	genome.wustl.edu	37	chr11	46747683	46747683	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgtggtgctatgtggccggGaagcctggcgactttgggta	18	7	0	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:46747683G>T	ENST00000311907.5	+	7	890	c.834G>T	c.(832-834)ggG>ggT	p.G278G	F2_ENST00000530231.1_Silent_p.G278G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	278	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ATGTGGCCGGGAAGCCTGGCG	0.582																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0								ENSG00000180210						74	85	81					11																	46747683		2201	4299	6500	F2	SO:0001819	synonymous_variant	0			-	HGNC	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.834G>T	11.37:g.46747683G>T		Somatic	0	34	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP							pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.G278	ENST00000311907.5	37	c.834	CCDS31476.1	11																																																																																			-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle		0.582	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	protein_coding	OTTHUMT00000317706.1	G		-		46747683	1	no_errors	ENST00000311907	ensembl	human	known	74_37	silent	SNP	0.000	T	T	46747683	G	T	46747683	2	4	110	1	0	0	0	0	0	0	0	1	5344	1161	41	3		3	F2	11	46747683	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	46156227	46747683	88258833	45	7336											
SDHAF2	54949	genome.wustl.edu	37	chr11	61205586	61205586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttactactgggccacagGtactgggtatgataagcagc	11	8	0	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:61205586G>T	ENST00000534878.1	+	3	394	c.371G>T	c.(370-372)gGt>gTt	p.G124V	SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000301761.2_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TGGGCCACAGGTACTGGGTAT	0.378																																																	0								ENSG00000167985						124	116	119					11																	61205586		2202	4299	6501	SDHAF2	SO:0001583	missense	0			-	HGNC	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"Mitochondrial respiratory chain complex assembly factors"	26034	protein-coding gene	gene with protein product		613019	"paraganglioma or familial glomus tumors 2", "chromosome 11 open reading frame 79"	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000534878.1:c.371G>T	11.37:g.61205586G>T	ENSP00000471030:p.Gly124Val	Somatic	0	38	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		Splice_Site	SNP							-	e3+1	ENST00000534878.1	37	c.370+1		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.829091|4.829091	0.90955|0.90955	.|.	.|.	ENSG00000167985|ENSG00000256591	ENST00000301761|ENST00000541135	.|T	.|0.80214	.|-1.35	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	.|D	.|0.87900	.|0.6294	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86178	.|0.1604	.|5	.|.	.|.	.|.	.|-16.6064	19.07|19.07	0.93130|0.93130	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|124	.|ENSP00000443130:G124V	.|.	.|G	+|+	.|2	.|0	SDHAF2|RP11-286N22.8	60962162|60962162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.567000|8.567000	0.90737|0.90737	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	.|GGT	-	-		0.378	SDHAF2-005	PUTATIVE	basic	protein_coding	SDHAF2	protein_coding	OTTHUMT00000398440.2	G	NM_017841	-		61205586	1	no_errors	ENST00000301761	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	61205586	G	T	61205586	3	4	110	1	0	0	0	0	1	0	0	0	13972	1275	44	3	381	3	SDHAF2	11	61205586	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	14457903	61205586	73800930	46	7337											
MMP3	4314	genome.wustl.edu	37	chr11	102713513	102713513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacctccagagtgtcggaGtccagcttccccgtcacctc	8	17	2	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:102713513G>A	ENST00000299855.5	-	2	496	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	80					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GAGTGTCGGAGTCCAGCTTCC	0.502																																																	0								ENSG00000149968						71	61	64					11																	102713513		2203	4299	6502	MMP3	SO:0001819	synonymous_variant	0			-	HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.240C>T	11.37:g.102713513G>A		Somatic	0	45	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D80	ENST00000299855.5	37	c.240	CCDS8323.1	11																																																																																			-	pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.502	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	G	NM_002422	-		102713513	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	silent	SNP	0.954	A	A	102713513	G	A	102713513	2	1	110	1	0	0	0	0	0	0	0	1	9668	1020	36	2		2	MMP3	11	102713513	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	41507927	102713513	32293003	47	7338											
NLRX1	79671	genome.wustl.edu	37	chr11	119053027	119053027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggccagagctgcccGggagcacccttccctggaac	13	17	0	1	rs199476053		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:119053027G>T	ENST00000409109.1	+	9	3166	c.2579G>T	c.(2578-2580)cGg>cTg	p.R860L	NLRX1_ENST00000409265.4_Missense_Mutation_p.R860L|NLRX1_ENST00000409991.1_Missense_Mutation_p.R860L|NLRX1_ENST00000292199.2_Missense_Mutation_p.R860L|NLRX1_ENST00000525863.1_Missense_Mutation_p.R860L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	860	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		AGAGCTGCCCGGGAGCACCCT	0.642																																																	0								ENSG00000160703						56	60	59					11																	119053027		2200	4295	6495	NLRX1	SO:0001583	missense	0			-	HGNC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2579G>T	11.37:g.119053027G>T	ENSP00000387334:p.Arg860Leu	Somatic	0	59	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R860L	ENST00000409109.1	37	c.2579	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	g	8.030	0.761589	0.15914	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.37	0.399	0.16325	.	1.346490	0.04866	N	0.445060	T	0.39200	0.1069	L	0.48260	1.515	0.21579	N	0.99963	P;B	0.36438	0.553;0.22	B;B	0.28849	0.095;0.06	T	0.32851	-0.9891	10	0.49607	T	0.09	.	8.7472	0.34594	0.4832:0.0:0.5168:0.0	.	860;860	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	860	ENSP00000386851:R860L;ENSP00000292199:R860L;ENSP00000386858:R860L;ENSP00000387334:R860L;ENSP00000433442:R860L	ENSP00000292199:R860L	R	+	2	0	NLRX1	118558237	0.883000	0.30277	0.650000	0.29550	0.327000	0.28475	2.809000	0.47971	-0.072000	0.12864	-1.906000	0.00525	CGG	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.642	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	protein_coding	OTTHUMT00000335403.1	G	NM_170722	-		119053027	1	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	SNP	0.560	T	T	119053027	G	T	119053027	3	4	110	1	0	0	0	0	1	0	0	0	10487	1116	39	3	2609	3	NLRX1	11	119053027	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	16339514	119053027	15953489	48	7339											
SMARCD1	41	genome.wustl.edu	37	chr12	50480064	50480064	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcagggatggatcagtccCgcaagagacctgcccctcag	12	13	3	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:50480064C>A	ENST00000447966.2	+	0	3778				SMARCD1_ENST00000381513.4_Missense_Mutation_p.R100S|SMARCD1_ENST00000394963.4_Missense_Mutation_p.R100S|SMARCD1_ENST00000548573.1_5'Flank	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						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)									Amiloride(DB00594)|Diclofenac(DB00586)	GGATCAGTCCCGCAAGAGACC	0.617																																																	0								ENSG00000066117						44	46	45					12																	50480064		2203	4300	6503	SMARCD1	SO:0001628	intergenic_variant	0			-	HGNC	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		12.37:g.50480064C>A		Somatic	0	47	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP							pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.R100S	ENST00000447966.2	37	c.298	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508867	0.44660	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000551497	D;D;T	0.84589	-1.87;-1.87;0.61	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	L	0.40543	1.245	0.80722	D	1	D;B;B	0.64830	0.994;0.182;0.273	D;B;B	0.63793	0.918;0.155;0.185	D	0.83708	0.0186	10	0.21540	T	0.41	-5.038	13.8143	0.63281	0.0:0.9255:0.0:0.0745	.	100;100;100	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	S	100;100;100;100;38	ENSP00000378414:R100S;ENSP00000370924:R100S;ENSP00000449825:R38S	ENSP00000370924:R100S	R	+	1	0	SMARCD1	48766331	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.748000	0.62148	1.257000	0.44085	-0.145000	0.13849	CGC	-	NULL		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	protein_coding	OTTHUMT00000406004.2	C	NM_020039	-		50480064	1	no_errors	ENST00000394963	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50480064	C	A	50480064	1	1	110	0	1	0	0	0	0	0	0	0	14785	652	23	3		3	SMARCD1	12	50480064	IGR	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09		50480064	83371831	49	7340											
LRP1	4035	genome.wustl.edu	37	chr12	57591343	57591343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggcctgaacaacgccGttgccttggattttgactac	10	12	0	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:57591343G>A	ENST00000243077.3	+	58	9644	c.9178G>A	c.(9178-9180)Gtt>Att	p.V3060I	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3060					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACAACGCCGTTGCCTTGGA	0.547																																																	0								ENSG00000123384						125	107	113					12																	57591343		2203	4300	6503	LRP1	SO:0001583	missense	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9178G>A	12.37:g.57591343G>A	ENSP00000243077:p.Val3060Ile	Somatic	0	33	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3060I	ENST00000243077.3	37	c.9178	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218875	0.39201	.	.	ENSG00000123384	ENST00000243077	D	0.91124	-2.79	4.53	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000027	D	0.88559	0.6469	N	0.15975	0.35	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.83686	0.0174	10	0.02654	T	1	.	16.1915	0.81992	0.0:0.0:1.0:0.0	.	3060	Q07954	LRP1_HUMAN	I	3060	ENSP00000243077:V3060I	ENSP00000243077:V3060I	V	+	1	0	LRP1	55877610	1.000000	0.71417	0.036000	0.18154	0.768000	0.43524	5.480000	0.66820	2.347000	0.79759	0.511000	0.50034	GTT	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	G	NM_002332	-		57591343	1	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	SNP	0.988	A	A	57591343	G	A	57591343	3	1	110	1	0	0	0	0	1	0	0	0	8953	1145	40	1	9408	1	LRP1	12	57591343	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	7111279	57591343	76260552	50	7341											
IRAK3	11213	genome.wustl.edu	37	chr12	66641685	66641685	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaactccttttgaaTgcagccagtctgaggttatg	9	9	2	3			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:66641685T>A	ENST00000261233.4	+	12	1946	c.1525T>A	c.(1525-1527)Tgc>Agc	p.C509S	IRAK3_ENST00000457197.2_Missense_Mutation_p.C448S	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCCTTTTGAATGCAGCCAGTC	0.418																																																	0								ENSG00000090376						132	128	129					12																	66641685		2203	4300	6503	IRAK3	SO:0001583	missense	0			-	HGNC	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1525T>A	12.37:g.66641685T>A	ENSP00000261233:p.Cys509Ser	Somatic	0	32	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom	p.C509S	ENST00000261233.4	37	c.1525	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673898	0.67928	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.75938	-0.98;-0.92	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	L	0.36672	1.1	0.41110	D	0.985735	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.78414	-0.2213	9	.	.	.	-15.1054	12.4942	0.55918	0.0:0.0:0.0:1.0	.	448;509	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	S	509;448	ENSP00000261233:C509S;ENSP00000409852:C448S	.	C	+	1	0	IRAK3	64927952	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	4.370000	0.59517	2.200000	0.70718	0.459000	0.35465	TGC	-	NULL		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	protein_coding	OTTHUMT00000401908.1	T		-		66641685	1	no_errors	ENST00000261233	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66641685	T	A	66641685	3	1	110	1	0	0	0	0	1	0	0	0	7826	1464	51	5	1571	5	IRAK3	12	66641685	Missense_Mutation	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09	9050342	66641685	67210210	51	7342											
APPL2	55198	genome.wustl.edu	37	chr12	105591572	105591572	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcgtggtgatctggaaGcagtagcgccggtcttcgca	16	9	2	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:105591572G>T	ENST00000258530.3	-	11	1248	c.1023C>A	c.(1021-1023)tgC>tgA	p.C341*	APPL2_ENST00000551662.1_Nonsense_Mutation_p.C347*|APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Nonsense_Mutation_p.C298*	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGATCTGGAAGCAGTAGCGCC	0.542																																																	0								ENSG00000136044						94	78	84					12																	105591572		2203	4300	6503	APPL2	SO:0001587	stop_gained	0			-	HGNC	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1023C>A	12.37:g.105591572G>T	ENSP00000258530:p.Cys341*	Somatic	0	31	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Nonsense_Mutation	SNP							pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.C347*	ENST00000258530.3	37	c.1041	CCDS9101.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.966209	0.97967	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	.	.	.	5.24	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5676	10.234	0.43273	0.2377:0.0:0.7623:0.0	.	.	.	.	X	341;298;347	.	ENSP00000258530:C341X	C	-	3	2	APPL2	104115702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.216000	0.51176	1.218000	0.43458	-0.251000	0.11542	TGC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	protein_coding	OTTHUMT00000406238.3	G	NM_018171	-		105591572	-1	no_errors	ENST00000551662	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	105591572	G	T	105591572	4	4	110	1	0	0	0	0	0	1	0	0	818	963	34	3	1015	3	APPL2	12	105591572	Nonsense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	38949887	105591572	28260323	52	7343											
ARG2	384	genome.wustl.edu	37	chr14	68087671	68087671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggcttgatgaaaaggCtctccagtttgggtaagtgg	14	6	1	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:68087671C>T	ENST00000261783.3	+	2	352	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	58					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	GATGAAAAGGCTCTCCAGTTT	0.433																																																	0								ENSG00000081181						178	164	169					14																	68087671		2203	4300	6503	ARG2	SO:0001583	missense	0			-	HGNC	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.172C>T	14.37:g.68087671C>T	ENSP00000261783:p.Leu58Phe	Somatic	0	56	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B2R690|Q6FHY8	Missense_Mutation	SNP							pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.L58F	ENST00000261783.3	37	c.172	CCDS9785.1	14	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858085	0.71834	.	.	ENSG00000081181	ENST00000261783	T	0.50001	0.76	5.03	5.03	0.67393	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80020	-0.1557	10	0.62326	D	0.03	.	15.3783	0.74630	0.0:1.0:0.0:0.0	.	58	P78540	ARGI2_HUMAN	F	58	ENSP00000261783:L58F	ENSP00000261783:L58F	L	+	1	0	ARG2	67157424	1.000000	0.71417	0.986000	0.45419	0.798000	0.45092	4.034000	0.57289	2.618000	0.88619	0.655000	0.94253	CTC	-	pfam_Ureohydrolase,tigrfam_Arginase		0.433	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	protein_coding	OTTHUMT00000415190.2	C	NM_001172	-		68087671	1	no_errors	ENST00000261783	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68087671	C	T	68087671	3	4	110	1	0	0	0	0	1	0	0	0	858	797	28	2	178	2	ARG2	14	68087671	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09		68087671	39261869	53	7344											
ACOT2	10965	genome.wustl.edu	37	chr14	74042189	74042189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaacacttgggtggccAcgaggggacaatcccatcaa	10	13	1	0	rs7494	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:74042189A>G	ENST00000238651.5	+	3	1606	c.1424A>G	c.(1423-1425)cAc>cGc	p.H475R	ACOT2_ENST00000538782.1_Missense_Mutation_p.H278R	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	475			H -> R (in dbSNP:rs7494). {ECO:0000269|PubMed:10944470, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTGGGTGGCCACGAGGGGACA	0.478																																																	0								ENSG00000119673						26	35	32					14																	74042189		1878	3779	5657	ACOT2	SO:0001583	missense	0			-	HGNC	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"Acyl CoA thioesterases"	18431	protein-coding gene	gene with protein product	"mitochondrial acyl-CoA thioesterase 1"	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1424A>G	14.37:g.74042189A>G	ENSP00000238651:p.His475Arg	Somatic	0	10	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP							pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.H475R	ENST00000238651.5	37	c.1424	CCDS9816.1	14	950	0.434981684981685	109	0.22154471544715448	160	0.4419889502762431	459	0.8024475524475524	222	0.2928759894459103	A	4.955	0.177425	0.09443	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.39406	2.36;1.08	3.47	0.9	0.19278	.	1.633630	0.03548	N	0.225068	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37197	-0.9716	9	0.17832	T	0.49	10.0461	2.9076	0.05726	0.6566:0.0:0.1285:0.2148	rs7494;rs3174638;rs3742820	413;475;278	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	R	278;475	ENSP00000440961:H278R;ENSP00000238651:H475R	ENSP00000238651:H475R	H	+	2	0	ACOT2	73111942	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	-0.054000	0.11826	-0.144000	0.11314	-0.558000	0.04189	CAC	-	pirsf_Acyl-CoA_thioEstase_long-chain		0.478	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	protein_coding	OTTHUMT00000414435.1	A	NM_006821	rs7494		74042189	1	no_errors	ENST00000238651	ensembl	human	known	74_37	missense	SNP	0.000	G	G	74042189	A	G	74042189	3	3	110	1	0	0	0	0	1	0	0	0	152	159	6	5	1434	5	ACOT2	14	74042189	Missense_Mutation	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09	5954518	74042189	33307351	54	7345											
C14orf166B	145497	genome.wustl.edu	37	chr14	77319755	77319755	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcctcagagttctgaaggTagtcttcagctggaaagggt	13	7	4	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:77319755T>C	ENST00000393774.3	+	9	1132		c.e9+2			NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GTTCTGAAGGTAGTCTTCAGC	0.488																																					Ovarian(165;1056 1958 32571 36789 48728)												0								ENSG00000100565						47	37	41					14																	77319755		2201	4297	6498	C14orf166B	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000393774.3:c.1008+2T>C	14.37:g.77319755T>C		Somatic	0	21	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		Splice_Site	SNP							-	e9+2	ENST00000393774.3	37	c.1008+2	CCDS9853.2	14	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444507	0.63178	.	.	ENSG00000100565	ENST00000393774	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4993	0.67709	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf166B	76389508	1.000000	0.71417	0.981000	0.43875	0.651000	0.38670	7.178000	0.77657	1.908000	0.55244	0.379000	0.24179	.	-	-		0.488	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	protein_coding	OTTHUMT00000316592.1	T		-	Intron	77319755	1	no_errors	ENST00000393774	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	77319755	T	C	77319755	5	2	110	1	0	0	0	0	0	0	1	0	1759	1652	57	5	1044	5	C14orf166B	14	77319755	Splice_Site	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09	3277566	77319755	30029785	55	7346											
ELL3	80237	genome.wustl.edu	37	chr15	44066407	44066407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagttcctcgccgaacTcttttaatctctgctcccag	7	14	3	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr15:44066407T>C	ENST00000319359.3	-	9	1652	c.1011A>G	c.(1009-1011)agA>agG	p.R337R	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	337					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTCGCCGAACTCTTTTAATCT	0.512																																																	0								ENSG00000128886						95	90	92					15																	44066407		2198	4298	6496	ELL3	SO:0001819	synonymous_variant	0			-	HGNC	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.1011A>G	15.37:g.44066407T>C		Somatic	0	51	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP							pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R337	ENST00000319359.3	37	c.1011	CCDS10102.1	15																																																																																			-	pfam_Occludin_RNApol2_elong_fac_ELL		0.512	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	protein_coding	OTTHUMT00000133236.2	T	NM_025165	-		44066407	-1	no_errors	ENST00000319359	ensembl	human	known	74_37	silent	SNP	0.998	C	C	44066407	T	C	44066407	2	2	110	1	0	0	0	0	0	0	0	1	5066	1548	54	5		5	ELL3	15	44066407	Silent	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09		44066407	58464985	56	7347											
SPPL2A	84888	genome.wustl.edu	37	chr15	51040331	51040331	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggttcatatctctaaagtcTttgtagcttataaatgcaat	6	6	3	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr15:51040331T>A	ENST00000261854.5	-	4	703	c.429A>T	c.(427-429)aaA>aaT	p.K143N	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	143	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTCTAAAGTCTTTGTAGCTTA	0.249																																					Melanoma(50;790 1209 4069 22965 33125)												0								ENSG00000138600						29	29	29					15																	51040331		2184	4273	6457	SPPL2A	SO:0001583	missense	0			-	HGNC		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.429A>T	15.37:g.51040331T>A	ENSP00000261854:p.Lys143Asn	Somatic	0	91	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.43	B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP							pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.K143N	ENST00000261854.5	37	c.429	CCDS10138.1	15	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074932	0.36566	.	.	ENSG00000138600	ENST00000261854	T	0.07216	3.21	6.07	4.95	0.65309	Protease-associated domain, PA (1);	0.363495	0.34507	N	0.003908	T	0.07548	0.0190	L	0.42744	1.35	0.32406	N	0.551321	B	0.17667	0.023	B	0.21360	0.034	T	0.11966	-1.0566	10	0.30078	T	0.28	-10.8128	5.5459	0.17063	0.1365:0.141:0.0:0.7225	.	143	Q8TCT8	PSL2_HUMAN	N	143	ENSP00000261854:K143N	ENSP00000261854:K143N	K	-	3	2	AC012100.1	48827623	0.995000	0.38212	0.967000	0.41034	0.899000	0.52679	1.086000	0.30853	1.111000	0.41721	0.533000	0.62120	AAA	-	pfam_Protease-assoc_domain		0.249	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2A	protein_coding	OTTHUMT00000254543.3	T	NM_032802	-		51040331	-1	no_errors	ENST00000261854	ensembl	human	known	74_37	missense	SNP	0.990	A	A	51040331	T	A	51040331	3	1	110	1	0	0	0	0	1	0	0	0	15095	1606	56	5	1181	5	SPPL2A	15	51040331	Missense_Mutation	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09	6973924	51040331	51491061	57	7348											
PARP6	56965	genome.wustl.edu	37	chr15	72534537	72534537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttagattccgactctgcaGgaaccgtgactgaatggatc	11	9	1	3			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr15:72534537G>T	ENST00000569795.1	-	22	2353	c.1666C>A	c.(1666-1668)Ctg>Atg	p.L556M	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.L556M|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	556	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGACTCTGCAGGAACCGTGAC	0.478																																																	0								ENSG00000137817						96	90	92					15																	72534537		1950	4146	6096	PARP6	SO:0001583	missense	0			-	HGNC	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.1666C>A	15.37:g.72534537G>T	ENSP00000456348:p.Leu556Met	Somatic	0	29	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L556M	ENST00000569795.1	37	c.1666	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443517	0.83993	.	.	ENSG00000137817	ENST00000287196	.	.	.	5.04	5.04	0.67666	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	U	0.000015	T	0.79064	0.4383	M	0.75884	2.315	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.992;0.998	T	0.79203	-0.1900	9	0.46703	T	0.11	-11.9907	17.5517	0.87878	0.0:0.0:1.0:0.0	.	556;489	Q2NL67;A0PJ50	PARP6_HUMAN;.	M	556	.	ENSP00000287196:L556M	L	-	1	2	PARP6	70321591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.537000	0.67186	2.618000	0.88619	0.655000	0.94253	CTG	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.478	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	protein_coding	OTTHUMT00000257315.2	G	NM_020214	-		72534537	-1	no_errors	ENST00000287196	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72534537	G	T	72534537	3	4	110	1	0	0	0	0	1	0	0	0	11466	991	35	3	238	3	PARP6	15	72534537	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	21494206	72534537	29996855	58	7349											
ZNF646	9726	genome.wustl.edu	37	chr16	31092310	31092310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacaccaacaagacagaCcgacactattgcctgctctg	6	15	1	2	rs201208689		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr16:31092310C>T	ENST00000394979.2	+	1	5088	c.4665C>T	c.(4663-4665)gaC>gaT	p.D1555D	ZNF646_ENST00000300850.5_Silent_p.D1555D			O15015	ZN646_HUMAN	zinc finger protein 646	1555					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						ACAAGACAGACCGACACTATT	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		20034	0		0	False		,,,				2504	0																0								ENSG00000167395						91	98	95					16																	31092310		2197	4300	6497	ZNF646	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.4665C>T	16.37:g.31092310C>T		Somatic	0	38	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q8IVD8	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1555	ENST00000394979.2	37	c.4665		16																																																																																			-	NULL		0.557	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	protein_coding	OTTHUMT00000108510.2	C	NM_014699	rs201208689		31092310	1	no_errors	ENST00000300850	ensembl	human	known	74_37	silent	SNP	0.423	T	T	31092310	C	T	31092310	2	4	110	1	0	0	0	0	0	0	0	1	18069	506	18	2		2	ZNF646	16	31092310	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09		31092310	59262443	59	7350											
WWP2	11060	genome.wustl.edu	37	chr16	69832714	69832714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggagctctgagcttctctGgaatgagatcatcattttgt	11	7	4	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr16:69832714G>T	ENST00000359154.2	+	3	301	c.200G>T	c.(199-201)tGg>tTg	p.W67L	WWP2_ENST00000448661.1_Missense_Mutation_p.W67L|WWP2_ENST00000356003.2_Missense_Mutation_p.W67L|WWP2_ENST00000569174.1_Missense_Mutation_p.W67L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	67	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGCTTCTCTGGAATGAGATC	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000198373						118	123	121					16																	69832714		2198	4300	6498	WWP2	SO:0001583	missense	0			-	HGNC	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.200G>T	16.37:g.69832714G>T	ENSP00000352069:p.Trp67Leu	Somatic	0	52	0	1117	0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.W67L	ENST00000359154.2	37	c.200	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569920	0.86542	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	D;D;D	0.83591	-1.74;-1.74;-1.74	6.03	5.07	0.68467	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.118294	0.64402	D	0.000007	D	0.89431	0.6713	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89177	0.3541	9	.	.	.	.	12.0827	0.53680	0.0792:0.0:0.9208:0.0	.	67	O00308	WWP2_HUMAN	L	67	ENSP00000352069:W67L;ENSP00000396871:W67L;ENSP00000348283:W67L	.	W	+	2	0	WWP2	68390215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.766000	0.91728	1.551000	0.49450	0.655000	0.94253	TGG	-	superfamily_C2_dom,smart_C2_dom		0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	protein_coding	OTTHUMT00000268954.1	G	NM_007014	-		69832714	1	no_errors	ENST00000356003	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69832714	G	T	69832714	3	4	110	1	0	0	0	0	1	0	0	0	17423	1357	47	3	206	3	WWP2	16	69832714	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	38740404	69832714	20522039	60	7351											
KLHL36	79786	genome.wustl.edu	37	chr16	84690651	84690651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttcaccatcggcatgCgggaagctttccagaaggag	12	11	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr16:84690651C>T	ENST00000564996.1	+	3	379	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R80W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATCGGCATGCGGGAAGCTTT	0.627																																																	0								ENSG00000135686						89	73	78					16																	84690651		2199	4300	6499	KLHL36	SO:0001583	missense	0			-	HGNC	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.238C>T	16.37:g.84690651C>T	ENSP00000456743:p.Arg80Trp	Somatic	0	31	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q8N5G6|Q9H9U6	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R80W	ENST00000564996.1	37	c.238	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758095	0.49468	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.68331	-0.32	5.46	4.47	0.54385	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.053545	0.64402	D	0.000001	D	0.85208	0.5644	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	D	0.88771	0.3264	10	0.72032	D	0.01	.	13.9734	0.64255	0.2907:0.7093:0.0:0.0	.	80;80	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	80	ENSP00000258157:R80W	ENSP00000258157:R80W	R	+	1	2	KLHL36	83248152	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	1.393000	0.34497	1.209000	0.43321	0.561000	0.74099	CGG	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.627	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	protein_coding	OTTHUMT00000269084.2	C		-		84690651	1	no_errors	ENST00000564996	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84690651	C	T	84690651	3	4	110	1	0	0	0	0	1	0	0	0	8391	759	27	1	244	1	KLHL36	16	84690651	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	14857937	84690651	5664102	61	7352											
SRR	63826	genome.wustl.edu	37	chr17	2226627	2226627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatcttcactgtcacagaGgatgaaattaaggtgaggct	11	6	3	3			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:2226627G>T	ENST00000344595.5	+	7	1110	c.792G>T	c.(790-792)gaG>gaT	p.E264D	TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.E38D	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	264					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CTGTCACAGAGGATGAAATTA	0.448																																																	0								ENSG00000167720						103	97	99					17																	2226627		2203	4300	6503	SRR	SO:0001583	missense	0			-	HGNC	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.792G>T	17.37:g.2226627G>T	ENSP00000339435:p.Glu264Asp	Somatic	0	29	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	D3DTI5|Q6IA55	Missense_Mutation	SNP							pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.E264D	ENST00000344595.5	37	c.792	CCDS11017.1	17	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517749	0.27123	.	.	ENSG00000167720	ENST00000344595	D	0.96365	-3.99	5.88	2.55	0.30701	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	L	0.35487	1.065	0.80722	D	1	B	0.28713	0.22	B	0.37422	0.249	D	0.83449	0.0047	10	0.06365	T	0.9	-30.1951	9.8933	0.41302	0.2377:0.0:0.7623:0.0	.	264	Q9GZT4	SRR_HUMAN	D	264	ENSP00000339435:E264D	ENSP00000339435:E264D	E	+	3	2	SRR	2173377	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.152000	0.42272	0.297000	0.22615	0.555000	0.69702	GAG	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.448	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRR	protein_coding	OTTHUMT00000207129.2	G	NM_021947	-		2226627	1	no_errors	ENST00000344595	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2226627	G	T	2226627	3	4	110	1	0	0	0	0	1	0	0	0	15173	991	35	3	814	3	SRR	17	2226627	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		2226627	78968583	62	7353											
MYH3	4621	genome.wustl.edu	37	chr17	10541139	10541139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttaccagcctcggtctgCaaacgagacttctgtgtggt	12	11	2	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:10541139C>T	ENST00000583535.1	-	28	3930	c.3843G>A	c.(3841-3843)ttG>ttA	p.L1281L	MYH3_ENST00000226209.7_Silent_p.L1281L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1281					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTCGGTCTGCAAACGAGACT	0.562																																																	0								ENSG00000109063						68	63	65					17																	10541139		2203	4300	6503	MYH3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3843G>A	17.37:g.10541139C>T		Somatic	0	35	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q15492	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1281	ENST00000583535.1	37	c.3843	CCDS11157.1	17																																																																																			-	pfam_Myosin_tail,superfamily_Prefoldin		0.562	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	C	NM_002470	-		10541139	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	silent	SNP	0.112	T	T	10541139	C	T	10541139	2	4	110	1	0	0	0	0	0	0	0	1	10038	709	25	2		2	MYH3	17	10541139	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	8314512	10541139	70654071	63	7354											
SLC47A2	146802	genome.wustl.edu	37	chr17	19618456	19618456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagggtcaccgatgccagCtccaccttgcccaggtgccc	12	17	1	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:19618456C>T	ENST00000325411.5	-	2	248	c.198G>A	c.(196-198)gaG>gaA	p.E66E	SLC47A2_ENST00000350657.5_Silent_p.E66E|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	66					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CCGATGCCAGCTCCACCTTGC	0.632																																																	0								ENSG00000180638						82	80	81					17																	19618456		2203	4300	6503	SLC47A2	SO:0001819	synonymous_variant	0			-	HGNC	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.198G>A	17.37:g.19618456C>T		Somatic	0	46	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP							pfam_MATE,tigrfam_MATE	p.E66	ENST00000325411.5	37	c.198	CCDS11211.1	17																																																																																			-	pfam_MATE		0.632	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	protein_coding	OTTHUMT00000132242.2	C	NM_152908	-		19618456	-1	no_errors	ENST00000325411	ensembl	human	known	74_37	silent	SNP	1.000	T	T	19618456	C	T	19618456	2	4	110	1	0	0	0	0	0	0	0	1	14656	796	28	2		2	SLC47A2	17	19618456	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	9077317	19618456	61576754	64	7355											
TMEM104	54868	genome.wustl.edu	37	chr17	72832223	72832223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatccctcattaccccCgtctcctccaagcgccacct	4	22	2	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:72832223C>T	ENST00000335464.5	+	10	1050	c.888C>T	c.(886-888)ccC>ccT	p.P296P	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.P296P	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	296						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)					TCATTACCCCCGTCTCCTCCA	0.617																																																	0								ENSG00000109066						192	139	157					17																	72832223		2203	4300	6503	TMEM104	SO:0001819	synonymous_variant	0			-	HGNC	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.888C>T	17.37:g.72832223C>T		Somatic	0	36	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP							pfam_AA_transpt_TM	p.P296	ENST00000335464.5	37	c.888	CCDS32723.1	17																																																																																			-	pfam_AA_transpt_TM		0.617	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	protein_coding	OTTHUMT00000444442.1	C	NM_017728	-		72832223	1	no_errors	ENST00000335464	ensembl	human	known	74_37	silent	SNP	0.849	T	T	72832223	C	T	72832223	2	4	110	1	0	0	0	0	0	0	0	1	16025	639	23	1		1	TMEM104	17	72832223	Silent	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	53213767	72832223	8362987	65	7356											
TMC6	11322	genome.wustl.edu	37	chr17	76117780	76117780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtgccgcagctgccactCggccagcagctcctgcaggc	13	17	0	0	rs536179551		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:76117780C>T	ENST00000590602.1	-	11	1399	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.E53K|TMC6_ENST00000589553.1_Missense_Mutation_p.E187K|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.E414K|TMC6_ENST00000392467.3_Missense_Mutation_p.E414K|TMC6_ENST00000591436.1_Missense_Mutation_p.E53K			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	414					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCCACTCGGCCAGCAGC	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		15809	0		0	False		,,,				2504	0																0								ENSG00000141524						8	10	9					17																	76117780		2021	4012	6033	TMC6	SO:0001583	missense	0			-	HGNC	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1240G>A	17.37:g.76117780C>T	ENSP00000465261:p.Glu414Lys	Somatic	0	20	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP							pfam_TMC	p.E414K	ENST00000590602.1	37	c.1240	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417514	0.62622	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.61742	0.08;0.08;0.08	4.36	4.36	0.52297	.	0.177321	0.34531	N	0.003895	T	0.72606	0.3481	M	0.79123	2.44	0.34921	D	0.748401	D;D;D;D	0.76494	0.999;0.976;0.992;0.995	D;B;P;P	0.62955	0.909;0.432;0.705;0.738	T	0.82729	-0.0313	10	0.72032	D	0.01	-20.579	12.5541	0.56244	0.0:0.8328:0.1672:0.0	.	187;414;414;53	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	K	414;414;53	ENSP00000313408:E414K;ENSP00000376260:E414K;ENSP00000313479:E53K	ENSP00000313408:E414K	E	-	1	0	TMC6	73629375	0.871000	0.30034	0.962000	0.40283	0.040000	0.13550	2.895000	0.48648	1.955000	0.56771	0.313000	0.20887	GAG	-	NULL		0.687	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	protein_coding	OTTHUMT00000437146.1	C		-		76117780	-1	no_errors	ENST00000322914	ensembl	human	known	74_37	missense	SNP	0.993	T	T	76117780	C	T	76117780	3	4	110	1	0	0	0	0	1	0	0	0	15996	893	31	1	1217	1	TMC6	17	76117780	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	3285557	76117780	5077430	66	7357											
THOC1	9984	genome.wustl.edu	37	chr18	260283	260283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctcccaacaatacaaaaGgtgtagatgcggtacaaata	7	9	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr18:260283G>T	ENST00000261600.6	-	5	285	c.278C>A	c.(277-279)cCt>cAt	p.P93H	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	93					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CAATACAAAAGGTGTAGATGC	0.338																																																	0								ENSG00000079134						61	53	55					18																	260283		1843	4087	5930	THOC1	SO:0001583	missense	0			-	HGNC	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.278C>A	18.37:g.260283G>T	ENSP00000261600:p.Pro93His	Somatic	0	20	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP							pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	p.P93H	ENST00000261600.6	37	c.278	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521554	0.44866	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87174	0.2223	9	0.66056	D	0.02	-9.8401	19.5751	0.95439	0.0:0.0:1.0:0.0	.	93;93	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	H	93	.	ENSP00000261600:P93H	P	-	2	0	THOC1	250283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.719000	0.93026	0.585000	0.79938	CCT	-	pfam_THO_THOC1		0.338	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	protein_coding	OTTHUMT00000440348.5	G	NM_005131	-		260283	-1	no_errors	ENST00000261600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	260283	G	T	260283	3	4	110	1	0	0	0	0	1	0	0	0	15871	1000	35	3	1763	3	THOC1	18	260283	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		260283	77816965	67	7358											
FBXL12	54850	genome.wustl.edu	37	chr19	9929421	9929421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggagatgcggatccgGtcccgtaccgggaggtaaga	15	11	0	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:9929421G>A	ENST00000247977.4	-	1	310	c.69C>T	c.(67-69)gaC>gaT	p.D23D	FBXL12_ENST00000592067.1_Intron|FBXL12_ENST00000586651.1_Silent_p.D23D|FBXL12_ENST00000586469.1_Silent_p.D23D|SNORA70_ENST00000363367.1_RNA|AC008752.1_ENST00000401283.1_RNA|FBXL12_ENST00000586073.1_Silent_p.D23D|FBXL12_ENST00000589626.1_Silent_p.D23D|FBXL12_ENST00000585379.1_Intron|FBXL12_ENST00000588922.1_Intron	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	23	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TGCGGATCCGGTCCCGTACCG	0.687																																																	0								ENSG00000127452						15	15	15					19																	9929421		2125	4157	6282	FBXL12	SO:0001819	synonymous_variant	0			-	HGNC	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"F-boxes / Leucine-rich repeats"	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.69C>T	19.37:g.9929421G>A		Somatic	0	27	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B3KSJ8|Q9H5K4	Silent	SNP							pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.D23	ENST00000247977.4	37	c.69	CCDS12218.1	19																																																																																			-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom		0.687	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	protein_coding	OTTHUMT00000450265.1	G	NM_017703	-		9929421	-1	no_errors	ENST00000247977	ensembl	human	known	74_37	silent	SNP	1.000	A	A	9929421	G	A	9929421	2	1	110	1	0	0	0	0	0	0	0	1	5710	1252	44	2		2	FBXL12	19	9929421	Silent	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		9929421	49199562	68	7359											
CNN1	1264	genome.wustl.edu	37	chr19	11651944	11651944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgagagagtggatcgaGggggtgacaggccgtcgcat	19	7	0	3	rs372849208		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:11651944G>T	ENST00000252456.2	+	2	328	c.117G>T	c.(115-117)gaG>gaT	p.E39D	CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.E19D|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	39	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGTGGATCGAGGGGGTGACAG	0.617																																																	0								ENSG00000130176	G	ASP/GLU	0,4406		0,0,2203	63	48	53		117	4	1	19		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNN1	NM_001299.4	45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	39/298	11651944	1,13005	2203	4300	6503	CNN1	SO:0001583	missense	0			-	HGNC	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.117G>T	19.37:g.11651944G>T	ENSP00000252456:p.Glu39Asp	Somatic	0	46	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP							pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.E39D	ENST00000252456.2	37	c.117	CCDS12263.1	19	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190124	0.58017	0.0	1.16E-4	ENSG00000130176	ENST00000252456;ENST00000544952	D;D	0.95069	-3.6;-3.6	5.1	4.04	0.47022	Calponin homology domain (5);	0.113441	0.64402	D	0.000020	D	0.94003	0.8079	M	0.81497	2.545	0.54753	D	0.999985	B	0.12013	0.005	B	0.26094	0.066	D	0.91575	0.5274	10	0.42905	T	0.14	-52.1503	12.8723	0.57972	0.0822:0.0:0.9178:0.0	.	39	P51911	CNN1_HUMAN	D	39;19	ENSP00000252456:E39D;ENSP00000437470:E19D	ENSP00000252456:E39D	E	+	3	2	CNN1	11512944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.665000	0.46791	1.120000	0.41904	0.549000	0.68633	GAG	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin,prints_Calponin		0.617	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN1	protein_coding	OTTHUMT00000458854.1	G	NM_001299	-		11651944	1	no_errors	ENST00000252456	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11651944	G	T	11651944	3	4	110	1	0	0	0	0	1	0	0	0	3611	991	35	3	123	3	CNN1	19	11651944	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	1722523	11651944	47477039	69	7360											
TMEM38A	79041	genome.wustl.edu	37	chr19	16791255	16791255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttctacaagtgtgtctGcttcctgcctgtgaaactca	7	13	4	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:16791255G>A	ENST00000187762.2	+	3	420	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	110						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AAGTGTGTCTGCTTCCTGCCT	0.557																																																	0								ENSG00000072954						285	268	274					19																	16791255		2203	4300	6503	TMEM38A	SO:0001583	missense	0			-	HGNC	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.329G>A	19.37:g.16791255G>A	ENSP00000187762:p.Cys110Tyr	Somatic	0	48	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	A8K9P9	Missense_Mutation	SNP							pfam_TRIC_channel	p.C110Y	ENST00000187762.2	37	c.329	CCDS12349.1	19	.	.	.	.	.	.	.	.	.	.	g	16.97	3.267897	0.59540	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.05	2.81	0.32909	.	0.256865	0.44688	D	0.000438	T	0.27419	0.0673	N	0.08118	0	0.33685	D	0.612563	P	0.52577	0.954	P	0.45377	0.478	T	0.39820	-0.9595	9	0.37606	T	0.19	-26.2201	14.3868	0.66949	0.0:0.2823:0.7177:0.0	.	110	Q9H6F2	TM38A_HUMAN	Y	110	.	ENSP00000187762:C110Y	C	+	2	0	TMEM38A	16652255	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.585000	0.46111	0.583000	0.29574	0.561000	0.74099	TGC	-	pfam_TRIC_channel		0.557	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38A	protein_coding	OTTHUMT00000462841.1	G	NM_024074	-		16791255	1	no_errors	ENST00000187762	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16791255	G	A	16791255	3	1	110	1	0	0	0	0	1	0	0	0	16166	1319	46	2	339	2	TMEM38A	19	16791255	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09	5139311	16791255	42337728	70	7361											
BANF2	140836	genome.wustl.edu	37	chr20	17716354	17716354	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttctgatgcacaagaatgaAgccgagtttcagaggtggct	12	8	2	4			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr20:17716354A>T	ENST00000246090.5	+	4	433	c.171A>T	c.(169-171)gaA>gaT	p.E57D	BANF2_ENST00000377805.3_Missense_Mutation_p.E57D|BANF2_ENST00000545418.2_Missense_Mutation_p.E64D|BANF2_ENST00000467330.1_3'UTR	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						ACAAGAATGAAGCCGAGTTTC	0.532																																																	0								ENSG00000125888						212	177	189					20																	17716354		2203	4300	6503	BANF2	SO:0001583	missense	0			-	HGNC	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 179"	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.171A>T	20.37:g.17716354A>T	ENSP00000246090:p.Glu57Asp	Somatic	0	56	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP							pfam_BAF_prot,superfamily_BAF_prot	p.E64D	ENST00000246090.5	37	c.192	CCDS13129.1	20	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178620	0.57692	.	.	ENSG00000125888	ENST00000545418;ENST00000377805;ENST00000246090	T;T;T	0.58358	0.34;0.34;0.34	5.28	0.304	0.15796	.	0.075412	0.49916	D	0.000129	T	0.60869	0.2302	.	.	.	0.09310	N	1	D;D	0.57571	0.975;0.98	P;P	0.61800	0.83;0.894	T	0.52616	-0.8552	9	0.54805	T	0.06	.	7.4827	0.27415	0.5624:0.0:0.4376:0.0	.	64;57	F5H3F6;Q9H503	.;BAFL_HUMAN	D	64;57;57	ENSP00000439128:E64D;ENSP00000367036:E57D;ENSP00000246090:E57D	ENSP00000246090:E57D	E	+	3	2	BANF2	17664354	0.323000	0.24643	0.029000	0.17559	0.477000	0.33069	-0.018000	0.12568	0.002000	0.14630	0.459000	0.35465	GAA	-	pfam_BAF_prot,superfamily_BAF_prot		0.532	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BANF2	protein_coding	OTTHUMT00000102261.2	A	NM_178477	-		17716354	1	no_errors	ENST00000545418	ensembl	human	known	74_37	missense	SNP	0.038	T	T	17716354	A	T	17716354	3	4	110	1	0	0	0	0	1	0	0	0	1308	69	3	5	202	5	BANF2	20	17716354	Missense_Mutation	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09		17716354	45309166	71	7362											
DHX35	60625	genome.wustl.edu	37	chr20	37597728	37597728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatttctgctgcaggtacAgaggggccaggtgtaagcat	13	8	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr20:37597728A>G	ENST00000252011.3	+	2	78	c.45A>G	c.(43-45)acA>acG	p.T15T	DHX35_ENST00000373325.2_Silent_p.T15T|DHX35_ENST00000373323.4_Silent_p.T15T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	15					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGCAGGTACAGAGGGGCCAG	0.398																																																	0								ENSG00000101452						65	55	59					20																	37597728		2203	4300	6503	DHX35	SO:0001819	synonymous_variant	0			-	HGNC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.45A>G	20.37:g.37597728A>G		Somatic	0	45	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T15	ENST00000252011.3	37	c.45	CCDS13310.1	20																																																																																			-	NULL		0.398	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	protein_coding	OTTHUMT00000079212.2	A	NM_021931	-		37597728	1	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	SNP	0.967	G	G	37597728	A	G	37597728	2	3	110	1	0	0	0	0	0	0	0	1	4510	175	7	5		5	DHX35	20	37597728	Silent	SNP	A	TCGA-DX-A8BZ-01A-11D-A37C-09	19881374	37597728	25427792	72	7363											
PFKL	5211	genome.wustl.edu	37	chr21	45738392	45738392	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggcggtgatggcgctgctgGaagccacgcctgacacgccg	16	13	0	2			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr21:45738392G>T	ENST00000349048.4	+	10	1031	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	PFKL_ENST00000403390.1_Nonsense_Mutation_p.E373*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	326	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCGCTGCTGGAAGCCACGCC	0.662																																																	0								ENSG00000141959						54	51	52					21																	45738392		2202	4300	6502	PFKL	SO:0001587	stop_gained	0			-	HGNC		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.976G>T	21.37:g.45738392G>T	ENSP00000269848:p.Glu326*	Somatic	0	42	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q96A64|Q96IH4|Q9BR91	Nonsense_Mutation	SNP							pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.E373*	ENST00000349048.4	37	c.1117	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	G	28.9	4.955939	0.92726	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	.	.	.	4.76	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.8905	12.9192	0.58222	0.0:0.0:0.8358:0.1642	.	.	.	.	X	326;119;373	.	ENSP00000269848:E326X	E	+	1	0	PFKL	44562820	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.385000	0.97223	0.947000	0.37659	0.313000	0.20887	GAA	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.662	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	protein_coding	OTTHUMT00000195805.1	G		-		45738392	1	no_errors	ENST00000403390	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	45738392	G	T	45738392	4	4	110	1	0	0	0	0	0	1	0	0	11766	1175	41	3	1014	3	PFKL	21	45738392	Nonsense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		45738392	2391503	73	7364											
SAMM50	25813	genome.wustl.edu	37	chr22	44368199	44368199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagttataacaccatgGttggaaacaatgaaggcagt	12	7	0	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr22:44368199G>T	ENST00000350028.4	+	5	563	c.406G>T	c.(406-408)Gtt>Ttt	p.V136F	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	136					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAACACCATGGTTGGAAACAA	0.358																																																	0								ENSG00000100347						129	119	123					22																	44368199		2203	4300	6503	SAMM50	SO:0001583	missense	0			-	HGNC	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.406G>T	22.37:g.44368199G>T	ENSP00000345445:p.Val136Phe	Somatic	0	47	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP							pfam_Bac_surfAg_D15	p.V136F	ENST00000350028.4	37	c.406	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043111	0.93685	.	.	ENSG00000100347	ENST00000350028	T	0.35973	1.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.77820	2.39	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.56768	-0.7924	10	0.27785	T	0.31	-27.917	17.797	0.88575	0.0:0.0:1.0:0.0	.	136	Q9Y512	SAM50_HUMAN	F	136	ENSP00000345445:V136F	ENSP00000345445:V136F	V	+	1	0	SAMM50	42699532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.500000	0.97977	2.525000	0.85131	0.655000	0.94253	GTT	-	NULL		0.358	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	protein_coding	OTTHUMT00000318898.2	G	NM_015380	-		44368199	1	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44368199	G	T	44368199	3	4	110	1	0	0	0	0	1	0	0	0	13837	1261	44	3	424	3	SAMM50	22	44368199	Missense_Mutation	SNP	G	TCGA-DX-A8BZ-01A-11D-A37C-09		44368199	6936367	74	7365											
PHEX	5251	genome.wustl.edu	37	chrX	22196424	22196424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgactactttggcaacgTcctacaaactcgcaagtatt	7	12	0	0			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chrX:22196424T>C	ENST00000379374.4	+	14	2082	c.1517T>C	c.(1516-1518)gTc>gCc	p.V506A	PHEX_ENST00000537599.1_Missense_Mutation_p.V506A|PHEX_ENST00000418858.3_Missense_Mutation_p.V209A|PHEX_ENST00000535894.1_Missense_Mutation_p.V409A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	506					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTGGCAACGTCCTACAAACT	0.333																																																	0								ENSG00000102174						98	88	91					X																	22196424		2203	4300	6503	PHEX	SO:0001583	missense	0			-	HGNC	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1517T>C	X.37:g.22196424T>C	ENSP00000368682:p.Val506Ala	Somatic	0	77	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	33	52.86	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V506A	ENST00000379374.4	37	c.1517	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676798	0.47886	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.58969	1.84	0.54753	D	0.999986	D;D	0.69078	0.997;0.996	D;P	0.66602	0.945;0.835	D	0.85489	0.1184	10	0.22706	T	0.39	.	14.2766	0.66184	0.0:0.0:0.0:1.0	.	506;506	F5GXU4;P78562	.;PHEX_HUMAN	A	506;506;409;209	ENSP00000368682:V506A;ENSP00000440362:V506A;ENSP00000439418:V409A;ENSP00000443531:V209A	ENSP00000368682:V506A	V	+	2	0	PHEX	22106345	1.000000	0.71417	0.993000	0.49108	0.657000	0.38888	6.160000	0.71862	2.018000	0.59344	0.486000	0.48141	GTC	-	NULL		0.333	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	protein_coding	OTTHUMT00000056035.1	T	NM_000444	-		22196424	1	no_errors	ENST00000379374	ensembl	human	known	74_37	missense	SNP	1.000	C	C	22196424	T	C	22196424	3	2	110	1	0	0	0	0	1	0	0	0	11821	1667	58	5	1571	5	PHEX	23	22196424	Missense_Mutation	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09		22196424	133074136	75	7366											
MAOA	4128	genome.wustl.edu	37	chrX	43571984	43571984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctgggaggctcaacaTgctgacaaatgggacaaaat	11	10	1	1			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chrX:43571984T>C	ENST00000338702.3	+	5	567	c.444T>C	c.(442-444)caT>caC	p.H148H	MAOA_ENST00000542639.1_Silent_p.H15H|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	148					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	AGGCTCAACATGCTGACAAAT	0.443																																																	0								ENSG00000189221						112	92	99					X																	43571984		2203	4299	6502	MAOA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.444T>C	X.37:g.43571984T>C		Somatic	0	45	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	B4DF46|Q16426	Silent	SNP							pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.H148	ENST00000338702.3	37	c.444	CCDS14260.1	X																																																																																			-	pfam_Amino_oxidase		0.443	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	protein_coding	OTTHUMT00000056300.1	T	NM_000240	-		43571984	1	no_errors	ENST00000338702	ensembl	human	known	74_37	silent	SNP	0.967	C	C	43571984	T	C	43571984	2	2	110	1	0	0	0	0	0	0	0	1	9227	1461	51	5		5	MAOA	23	43571984	Silent	SNP	T	TCGA-DX-A8BZ-01A-11D-A37C-09	21375560	43571984	111698576	76	7367											
RBM10	8241	genome.wustl.edu	37	chrX	47035947	47035947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgatgcactacagtgacCccaagcccaagatcaatgag	9	12	1	3			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chrX:47035947C>T	ENST00000377604.3	+	7	1367	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	RBM10_ENST00000345781.6_Missense_Mutation_p.P132S|RBM10_ENST00000329236.7_Missense_Mutation_p.P132S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	209	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTACAGTGACCCCAAGCCCAA	0.587																																					Melanoma(171;120 2705 19495 39241)												0								ENSG00000182872						182	114	137					X																	47035947		2203	4300	6503	RBM10	SO:0001583	missense	0			-	HGNC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.625C>T	X.37:g.47035947C>T	ENSP00000366829:p.Pro209Ser	Somatic	0	50	0		0.587330204659217				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP							pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.P209S	ENST00000377604.3	37	c.625	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328808	0.60743	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.12147	2.71;3.34;3.34	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.84585	2.705	0.36779	D	0.884216	D;P;P;D;D	0.89917	1.0;0.768;0.926;1.0;0.985	D;B;P;D;P	0.87578	0.998;0.418;0.835;0.998;0.873	T	0.51116	-0.8746	10	0.31617	T	0.26	-18.9531	14.4882	0.67631	0.0:1.0:0.0:0.0	.	132;274;209;132;209	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	S	209;132;132	ENSP00000366829:P209S;ENSP00000328848:P132S;ENSP00000329659:P132S	ENSP00000328848:P132S	P	+	1	0	RBM10	46920891	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.552000	0.60747	2.089000	0.63090	0.418000	0.28097	CCC	-	pfscan_RRM_dom		0.587	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	protein_coding	OTTHUMT00000056381.1	C	NM_005676	-		47035947	1	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47035947	C	T	47035947	3	4	110	1	0	0	0	0	1	0	0	0	13119	623	22	2	647	2	RBM10	23	47035947	Missense_Mutation	SNP	C	TCGA-DX-A8BZ-01A-11D-A37C-09	3463963	47035947	108234613	77	7368											
PTCHD2	57540	genome.wustl.edu	37	chr1	11586796	11586796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcggcgagcccctcccGcaagtggatgctgacgacct	13	16	0	1	rs544574486		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:11586796G>A	ENST00000294484.6	+	13	2840	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R901H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	901					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCCTCCCGCAAGTGGATG	0.577													G|||	1	0.000199681	0	0	5008	,	,		17993	0.001		0	False		,,,				2504	0																0								ENSG00000204624						75	83	80					1																	11586796		2014	4176	6190	PTCHD2	SO:0001583	missense	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2702G>A	1.37:g.11586796G>A	ENSP00000294484:p.Arg901His	Somatic	0	63	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	38.46	Q5VTU9|Q9UJD6	Missense_Mutation	SNP							pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.R901H	ENST00000294484.6	37	c.2702	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232186	0.79688	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90069	-2.61;-2.61	5.58	5.58	0.84498	.	0.211286	0.40302	N	0.001137	D	0.83454	0.5258	L	0.27053	0.805	0.39304	D	0.964969	D	0.61697	0.99	P	0.45099	0.469	D	0.85347	0.1099	10	0.51188	T	0.08	-19.7888	11.9484	0.52940	0.0788:0.0:0.9212:0.0	.	901	Q9P2K9	PTHD2_HUMAN	H	901	ENSP00000294484:R901H;ENSP00000374226:R901H	ENSP00000294484:R901H	R	+	2	0	PTCHD2	11509383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.976000	0.49289	2.622000	0.88805	0.462000	0.41574	CGC	-	NULL		0.577	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	G	XM_052561	-		11586796	1	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11586796	G	A	11586796	3	1	111	1	0	0	0	0	1	0	0	0	12738	1087	38	1	2748	1	PTCHD2	1	11586796	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		11586796	237663825	1	7369											
EIF4G3	8672	genome.wustl.edu	37	chr1	21276516	21276516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcttctggtcgctagctGcagtgacaggggtgctggca	15	10	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:21276516G>A	ENST00000264211.8	-	7	829	c.635C>T	c.(634-636)gCa>gTa	p.A212V	EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A212V|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A223V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A218V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A218V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A212V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A212V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	212					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCGCTAGCTGCAGTGACAGG	0.498																																																	0								ENSG00000075151						68	67	68					1																	21276516		2203	4300	6503	EIF4G3	SO:0001583	missense	0			-	HGNC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.635C>T	1.37:g.21276516G>A	ENSP00000264211:p.Ala212Val	Somatic	0	27	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.A218V	ENST00000264211.8	37	c.653	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635478	0.67130	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.92	5.92	0.95590	.	0.366667	0.27650	N	0.018437	T	0.32133	0.0819	N	0.19112	0.55	0.52501	D	0.999958	B;B;B;D;B;B	0.71674	0.404;0.43;0.001;0.998;0.43;0.012	B;B;B;D;B;B	0.80764	0.206;0.229;0.002;0.994;0.13;0.005	T	0.03394	-1.1041	10	0.51188	T	0.08	-14.1773	15.4618	0.75363	0.0677:0.0:0.9323:0.0	.	212;407;212;338;218;212	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	V	212;408;212;212;218;338;212;223;212	ENSP00000264211:A212V;ENSP00000383274:A212V;ENSP00000364071:A212V;ENSP00000364073:A218V;ENSP00000364062:A212V;ENSP00000395381:A212V	ENSP00000264211:A212V	A	-	2	0	EIF4G3	21149103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.796000	0.62496	2.822000	0.97130	0.650000	0.86243	GCA	-	NULL		0.498	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	G	NM_003760	-		21276516	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21276516	G	A	21276516	3	1	111	1	0	0	0	0	1	0	0	0	5040	1319	46	2	4222	2	EIF4G3	1	21276516	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	9689720	21276516	227974105	2	7370											
HSPG2	3339	genome.wustl.edu	37	chr1	22206638	22206638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtcacaggagctggcatGgccattgcaattgcaaccag	13	10	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:22206638G>T	ENST00000374695.3	-	17	2384	c.2305C>A	c.(2305-2307)Cat>Aat	p.H769N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	769	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	GAGCTGGCATGGCCATTGCAA	0.557																																																	0								ENSG00000142798						55	57	56					1																	22206638		2203	4300	6503	HSPG2	SO:0001583	missense	0			-	HGNC	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.2305C>A	1.37:g.22206638G>T	ENSP00000363827:p.His769Asn	Somatic	0	28	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	5	61.54	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.H769N	ENST00000374695.3	37	c.2305	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546436	0.86022	.	.	ENSG00000142798	ENST00000374695	T	0.65549	-0.16	5.38	5.38	0.77491	EGF-like, laminin (3);	0.000000	0.40908	D	0.000990	T	0.78470	0.4288	M	0.69523	2.12	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.80710	-0.1261	10	0.87932	D	0	.	16.6294	0.85029	0.0:0.0:1.0:0.0	.	769	P98160	PGBM_HUMAN	N	769	ENSP00000363827:H769N	ENSP00000363827:H769N	H	-	1	0	HSPG2	22079225	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.053000	0.93860	2.527000	0.85204	0.655000	0.94253	CAT	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.557	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22206638	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22206638	G	T	22206638	3	4	111	1	0	0	0	0	1	0	0	0	7432	1348	47	3	11194	3	HSPG2	1	22206638	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	930122	22206638	227043983	3	7371											
PAFAH2	5051	genome.wustl.edu	37	chr1	26303191	26303191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaaattgggtctccttgGccaaagccagaatagctgtg	11	10	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:26303191G>A	ENST00000374282.3	-	8	919	c.740C>T	c.(739-741)gCc>gTc	p.A247V	PAFAH2_ENST00000374284.1_Missense_Mutation_p.A247V	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	247					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTCCTTGGCCAAAGCCAG	0.453																																																	0								ENSG00000158006						100	86	91					1																	26303191		2203	4300	6503	PAFAH2	SO:0001583	missense	0			-	HGNC	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.740C>T	1.37:g.26303191G>A	ENSP00000363400:p.Ala247Val	Somatic	0	61	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP							pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote	p.A247V	ENST00000374282.3	37	c.740	CCDS270.1	1	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904670	0.17760	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.54071	0.59;0.59	5.2	3.28	0.37604	.	0.513309	0.19263	N	0.118640	T	0.38081	0.1027	L	0.43152	1.355	0.25226	N	0.989866	B	0.13145	0.007	B	0.12837	0.008	T	0.22277	-1.0221	10	0.15952	T	0.53	-3.2623	5.9289	0.19128	0.1646:0.3006:0.5348:0.0	.	247	Q99487	PAFA2_HUMAN	V	247	ENSP00000363400:A247V;ENSP00000363402:A247V	ENSP00000363400:A247V	A	-	2	0	PAFAH2	26175778	0.463000	0.25799	0.997000	0.53966	0.233000	0.25261	0.453000	0.21811	0.664000	0.31047	0.313000	0.20887	GCC	-	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote		0.453	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH2	protein_coding	OTTHUMT00000019544.1	G	NM_000437	-		26303191	-1	no_errors	ENST00000374282	ensembl	human	known	74_37	missense	SNP	0.999	A	A	26303191	G	A	26303191	3	1	111	1	0	0	0	0	1	0	0	0	11389	1203	42	2	454	2	PAFAH2	1	26303191	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	4096553	26303191	222947430	4	7372											
RAD54L	8438	genome.wustl.edu	37	chr1	46743599	46743599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccacttctctctgggcgaGttgaaggagctgtttatcct	11	11	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:46743599G>T	ENST00000371975.4	+	17	2654	c.1980G>T	c.(1978-1980)gaG>gaT	p.E660D	LRRC41_ENST00000472710.1_5'Flank|RAD54L_ENST00000442598.1_Missense_Mutation_p.E660D	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	660					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCTGGGCGAGTTGAAGGAGC	0.527								Direct reversal of damage;Homologous recombination																																									0								ENSG00000085999						138	124	128					1																	46743599		2203	4300	6503	RAD54L	SO:0001583	missense	0			-	HGNC	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1980G>T	1.37:g.46743599G>T	ENSP00000361043:p.Glu660Asp	Somatic	0	27	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q5TE31|Q6IUY3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E660D	ENST00000371975.4	37	c.1980	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	0.765	-0.768028	0.02974	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75477	-0.94;-0.94	5.31	0.311	0.15831	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	N	0.20304	0.555	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.44329	-0.9335	10	0.02654	T	1	-20.7381	9.7857	0.40675	0.4119:0.0:0.5881:0.0	.	480;660	G3V1N0;Q92698	.;RAD54_HUMAN	D	660;660;480	ENSP00000396113:E660D;ENSP00000361043:E660D	ENSP00000361043:E660D	E	+	3	2	RAD54L	46516186	0.993000	0.37304	0.367000	0.25926	0.983000	0.72400	0.886000	0.28241	-0.081000	0.12662	0.561000	0.74099	GAG	-	superfamily_P-loop_NTPase		0.527	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	protein_coding	OTTHUMT00000021272.1	G	NM_003579	-		46743599	1	no_errors	ENST00000371975	ensembl	human	known	74_37	missense	SNP	0.932	T	T	46743599	G	T	46743599	3	4	111	1	0	0	0	0	1	0	0	0	13001	1020	36	3	2046	3	RAD54L	1	46743599	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	20440408	46743599	202507022	5	7373											
ITGA10	8515	genome.wustl.edu	37	chr1	145542263	145542263	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggaagaaaaaagagaagaGaagttggagcaatgaatgta	14	1	0	4			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:145542263G>C	ENST00000369304.3	+	30	3664	c.3489G>C	c.(3487-3489)gaG>gaC	p.E1163D	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000539363.1_Missense_Mutation_p.E1020D|ITGA10_ENST00000538811.1_Missense_Mutation_p.E1032D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1163					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)					AAAGAGAAGAGAAGTTGGAGC	0.453																																																	0								ENSG00000143127						136	146	143					1																	145542263		2203	4300	6503	ITGA10	SO:0001583	missense	0			-	HGNC	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.3489G>C	1.37:g.145542263G>C	ENSP00000358310:p.Glu1163Asp	Somatic	0	45	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E1163D	ENST00000369304.3	37	c.3489	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386234	0.25031	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.59638	0.25;0.27;0.26	5.33	3.45	0.39498	.	1.720240	0.02816	N	0.124950	T	0.26231	0.0640	L	0.46157	1.445	0.30205	N	0.798249	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.05716	-1.0868	10	0.10902	T	0.67	.	6.7251	0.23353	0.0885:0.0:0.7369:0.1746	.	1091;1032;1020;1163	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	D	1163;1091;1020;1032	ENSP00000358310:E1163D;ENSP00000439894:E1020D;ENSP00000440011:E1032D	ENSP00000358310:E1163D	E	+	3	2	ITGA10	144253620	0.999000	0.42202	1.000000	0.80357	0.855000	0.48748	1.039000	0.30266	0.809000	0.34255	0.655000	0.94253	GAG	-	NULL		0.453	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	G	NM_003637	-		145542263	1	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	SNP	1.000	C	C	145542263	G	C	145542263	3	2	111	1	0	0	0	0	1	0	0	0	7875	933	33	4	3607	4	ITGA10	1	145542263	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	98798664	145542263	103708358	6	7374											
SLAMF1	6504	genome.wustl.edu	37	chr1	160604456	160604456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtctgggaattgttgCtgatagggttgctcacggtg	16	5	2	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:160604456C>A	ENST00000302035.6	-	3	996	c.647G>T	c.(646-648)aGc>aTc	p.S216I	SLAMF1_ENST00000538290.1_Missense_Mutation_p.S216I|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S216I|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S216I	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	216	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGAATTGTTGCTGATAGGGTT	0.597																																																	0								ENSG00000117090						158	144	149					1																	160604456		2203	4300	6503	SLAMF1	SO:0001583	missense	0			-	HGNC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.647G>T	1.37:g.160604456C>A	ENSP00000306190:p.Ser216Ile	Somatic	0	34	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	Q5W172|Q9HBE8	Missense_Mutation	SNP							pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom	p.S216I	ENST00000302035.6	37	c.647	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331561	0.41297	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.24	4.24	0.50183	Immunoglobulin-like (1);	0.043242	0.85682	D	0.000000	T	0.75679	0.3882	H	0.95043	3.615	0.44754	D	0.997757	D	0.89917	1.0	D	0.91635	0.999	T	0.81623	-0.0849	10	0.87932	D	0	-37.9062	12.4339	0.55588	0.0:1.0:0.0:0.0	.	216	Q13291	SLAF1_HUMAN	I	216	ENSP00000306190:S216I;ENSP00000235739:S216I;ENSP00000438406:S216I;ENSP00000347333:S216I	ENSP00000235739:S216I	S	-	2	0	SLAMF1	158871080	1.000000	0.71417	0.997000	0.53966	0.070000	0.16714	2.497000	0.45354	2.640000	0.89533	0.650000	0.86243	AGC	-	pfscan_Ig-like_dom		0.597	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	protein_coding	OTTHUMT00000060454.1	C		-		160604456	-1	no_errors	ENST00000302035	ensembl	human	known	74_37	missense	SNP	0.998	A	A	160604456	C	A	160604456	3	1	111	1	0	0	0	0	1	0	0	0	14375	797	28	3	380	3	SLAMF1	1	160604456	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	15062193	160604456	88646165	7	7375											
LY9	4063	genome.wustl.edu	37	chr1	160784371	160784371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagagagggaagaagcagcaAcggcagatccactcattaaa	11	8	1	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:160784371A>T	ENST00000263285.6	+	4	922	c.892A>T	c.(892-894)Acg>Tcg	p.T298S	LY9_ENST00000368037.5_Missense_Mutation_p.T298S|LY9_ENST00000368040.1_De_novo_Start_InFrame|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.T258S|LY9_ENST00000341032.4_Missense_Mutation_p.T298S|LY9_ENST00000392203.4_Missense_Mutation_p.T298S			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	298	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAGCAGCAACGGCAGATCC	0.522																																																	0								ENSG00000122224						110	93	99					1																	160784371		2203	4300	6503	LY9	SO:0001583	missense	0			-	HGNC	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.892A>T	1.37:g.160784371A>T	ENSP00000263285:p.Thr298Ser	Somatic	0	55	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.T298S	ENST00000263285.6	37	c.892	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.146934	0.37923	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01538	4.79;4.79	3.61	0.959	0.19624	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01976	0.0062	M	0.80183	2.485	0.09310	N	0.999993	D;D;P;P;D;D	0.61697	0.982;0.982;0.888;0.905;0.99;0.982	P;P;B;B;P;P	0.55087	0.591;0.591;0.287;0.197;0.768;0.591	T	0.43310	-0.9399	9	0.39692	T	0.17	-4.9022	3.3406	0.07116	0.629:0.2393:0.1317:0.0	.	298;258;258;298;298;298	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	S	298;298;298;298;258;258;200	ENSP00000342921:T298S;ENSP00000263285:T298S	ENSP00000263285:T298S	T	+	1	0	LY9	159050995	0.005000	0.15991	0.055000	0.19348	0.018000	0.09664	0.382000	0.20635	0.515000	0.28320	0.460000	0.39030	ACG	-	smart_Ig_sub		0.522	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	protein_coding	OTTHUMT00000060457.3	A	NM_002348	-		160784371	1	no_errors	ENST00000263285	ensembl	human	known	74_37	missense	SNP	0.072	T	T	160784371	A	T	160784371	3	4	111	1	0	0	0	0	1	0	0	0	9103	43	2	5	1038	5	LY9	1	160784371	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	179915	160784371	88466250	8	7376											
F11R	50848	genome.wustl.edu	37	chr1	160969677	160969677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactctcaccagcttccatgCgcacagcatttgaagtcatg	7	13	2	1	rs147266047		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:160969677C>A	ENST00000368026.6	-	6	957	c.683G>T	c.(682-684)cGc>cTc	p.R228L	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.R179L|F11R_ENST00000472573.1_5'Flank	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	228	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGCTTCCATGCGCACAGCATT	0.542																																																	0								ENSG00000158769						88	82	84					1																	160969677		2203	4300	6503	F11R	SO:0001583	missense	0			-	HGNC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.683G>T	1.37:g.160969677C>A	ENSP00000357005:p.Arg228Leu	Somatic	0	48	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	9.76	B7Z941	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R228L	ENST00000368026.6	37	c.683	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620273	0.46736	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.69806	-0.43;-0.43;-0.43	5.41	-2.5	0.06384	Immunoglobulin-like (1);	0.844176	0.11061	N	0.603940	T	0.35189	0.0923	L	0.46947	1.48	0.21147	N	0.999772	P;P;P;P;P	0.43857	0.819;0.591;0.723;0.723;0.723	B;B;B;B;B	0.38712	0.141;0.28;0.108;0.108;0.108	T	0.29397	-1.0013	10	0.37606	T	0.19	.	10.2906	0.43594	0.0:0.3738:0.0:0.6262	.	232;179;228;228;228	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	L	228;228;228;179;232	ENSP00000357005:R228L;ENSP00000440812:R179L;ENSP00000394809:R232L	ENSP00000289779:R228L	R	-	2	0	F11R	159236301	0.003000	0.15002	0.118000	0.21660	0.926000	0.56050	-1.382000	0.02546	-0.688000	0.05155	0.563000	0.77884	CGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	protein_coding	OTTHUMT00000071458.3	C	NM_016946	-		160969677	-1	no_errors	ENST00000368026	ensembl	human	known	74_37	missense	SNP	0.054	A	A	160969677	C	A	160969677	3	1	111	1	0	0	0	0	1	0	0	0	5340	768	27	3	236	3	F11R	1	160969677	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	185306	160969677	88280944	9	7377											
ZC3H11A	9877	genome.wustl.edu	37	chr1	203809457	203809457	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtttccaagtctcttaagGagcgattaggcatgtcagct	10	8	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:203809457G>T	ENST00000545588.1	+	11	4824	c.997G>T	c.(997-999)Gag>Tag	p.E333*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.E333*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.E333*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.E333*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.E333*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	333					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCTCTTAAGGAGCGATTAGG	0.363																																																	0								ENSG00000058673						116	118	117					1																	203809457		2203	4300	6503	ZC3H11A	SO:0001587	stop_gained	0			-	HGNC		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.997G>T	1.37:g.203809457G>T	ENSP00000438527:p.Glu333*	Somatic	0	48	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP							smart_Znf_CCCH	p.E333*	ENST00000545588.1	37	c.997	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.540770	0.99199	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.35	5.35	0.76521	.	0.064498	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-14.7879	18.1786	0.89769	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;279;333;333;333;333	.	ENSP00000333253:E333X	E	+	1	0	ZC3H11A	202076080	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.265000	0.72534	2.657000	0.90304	0.650000	0.86243	GAG	-	NULL		0.363	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	protein_coding	OTTHUMT00000087471.3	G	NM_014827	-		203809457	1	no_errors	ENST00000332127	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	203809457	G	T	203809457	4	4	111	1	0	0	0	0	0	1	0	0	17567	1175	41	3	1035	3	ZC3H11A	1	203809457	Nonsense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	42839780	203809457	45441164	10	7378											
ZNF238	10472	genome.wustl.edu	37	chr1	244217791	244217791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggtctgtcacctccGtgagggattcggcagatgtt	13	11	2	3	rs368207817		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr1:244217791G>T	ENST00000358704.4	+	2	864	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	230				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|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)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTCACCTCCGTGAGGGATTC	0.542																																																	0								ENSG00000179456						79	90	86					1																	244217791		2203	4300	6503	ZBTB18	SO:0001583	missense	0			-	HGNC	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.715G>T	1.37:g.244217791G>T	ENSP00000351539:p.Val239Leu	Somatic	0	19	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	4	73.33	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V239L	ENST00000358704.4	37	c.715	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603810	0.03717	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.11604	2.76	5.02	5.02	0.67125	.	0.133496	0.47093	D	0.000249	T	0.06325	0.0163	N	0.14661	0.345	0.37678	D	0.923399	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34378	-0.9831	10	0.27082	T	0.32	.	9.2515	0.37557	0.1581:0.0:0.8419:0.0	.	230;239	Q99592;Q99592-2	ZN238_HUMAN;.	L	239	ENSP00000351539:V239L	ENSP00000351539:V239L	V	+	1	0	ZNF238	242284414	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.147000	0.42226	2.616000	0.88540	0.650000	0.86243	GTG	-	NULL		0.542	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	protein_coding	OTTHUMT00000096513.2	G	NM_205768	-		244217791	1	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	SNP	1.000	T	T	244217791	G	T	244217791	3	4	111	1	0	0	0	0	1	0	0	0	17797	1145	40	3	721	3	ZNF238	1	244217791	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	40408334	244217791	5032830	11	7379											
CHST10	9486	genome.wustl.edu	37	chr2	101023037	101023037	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccaccatgaagcatacgtaCcatctgggtctttaaaggtc	8	11	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:101023037C>G	ENST00000264249.3	-	3	486		c.e3+1		CHST10_ENST00000542617.1_Splice_Site|CHST10_ENST00000409701.1_Splice_Site|CHST10_ENST00000485085.1_5'Flank	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10						carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGCATACGTACCATCTGGGTC	0.458																																																	0								ENSG00000115526						324	304	311					2																	101023037		2203	4300	6503	CHST10	SO:0001630	splice_region_variant	0			-	HGNC	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.100+1G>C	2.37:g.101023037C>G		Somatic	0	50	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	3	86.36	Q53T18	Splice_Site	SNP							-	e3+1	ENST00000264249.3	37	c.244+1	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523526	0.64747	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474;ENST00000418201	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5386	0.91019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHST10	100389469	1.000000	0.71417	0.906000	0.35671	0.660000	0.38997	6.596000	0.74113	2.449000	0.82847	0.561000	0.74099	.	-	-		0.458	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	protein_coding	OTTHUMT00000253162.1	C	NM_004854	-	Intron	101023037	-1	no_errors	ENST00000542617	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	101023037	C	G	101023037	5	3	111	1	0	0	0	0	0	0	1	0	3400	521	18	4	989	4	CHST10	2	101023037	Splice_Site	SNP	C	TCGA-DX-AATS-01A-12D-A417-09		101023037	142176336	12	7380											
CWC22	57703	genome.wustl.edu	37	chr2	180830631	180830633	+	In_Frame_Del	DEL	TCT	TCT	-													catcttcttctccctcttccTcttcttcttcctcgtcctct					rs375986468		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:180830631_180830633delTCT	ENST00000410053.3	-	12	1586_1588	c.1287_1289delAGA	c.(1285-1290)gaagag>gag	p.429_430EE>E	CWC22_ENST00000295749.6_In_Frame_Del_p.429_430EE>E	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	429	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						tccctcttcctcttcttcttcct	0.345																																																	0								ENSG00000163510																																			CWC22	SO:0001651	inframe_deletion	0				HGNC		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1287_1289delAGA	2.37:g.180830637_180830639delTCT	ENSP00000387006:p.Glu432del	Somatic	0	74	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	In_Frame_Del	DEL							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.E432in_frame_del	ENST00000410053.3	37	c.1289_1287	CCDS46465.1	2																																																																																			-	NULL		0.345	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	protein_coding	OTTHUMT00000334537.1	TCT	NM_020943			180830633	-1	no_errors	ENST00000295749	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.963	-	-	180830633	TCT	-	180830631	7	5	111	1	0	1	0	1	0	0	0	0	4070	1551	54	0	1473	0	CWC22	2	180830631	In_Frame_Del	DEL	TCT	TCGA-DX-AATS-01A-12D-A417-09	79807594	180830631	62368742	13	7381											
ACCN4	55515	genome.wustl.edu	37	chr2	220379808	220379808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccctctgcaatatcaAccgcttccggcattcggcac	7	16	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr2:220379808A>G	ENST00000347842.3	+	1	757	c.743A>G	c.(742-744)aAc>aGc	p.N248S	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.N248S	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	248					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TGCAATATCAACCGCTTCCGG	0.682																																																	0								ENSG00000072182						33	32	32					2																	220379808		2203	4300	6503	ASIC4	SO:0001583	missense	0			-	HGNC	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.743A>G	2.37:g.220379808A>G	ENSP00000326627:p.Asn248Ser	Somatic	0	26	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC	p.N248S	ENST00000347842.3	37	c.743	CCDS2442.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964234	0.74131	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.69806	-0.43;-0.43	4.69	4.69	0.59074	.	0.262077	0.35739	N	0.003011	D	0.83700	0.5311	M	0.88570	2.965	0.58432	D	0.999997	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.987	D	0.87051	0.2147	10	0.72032	D	0.01	-25.0108	13.9981	0.64414	1.0:0.0:0.0:0.0	.	248;248;248	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	S	248	ENSP00000326627:N248S;ENSP00000350786:N248S	ENSP00000326627:N248S	N	+	2	0	ACCN4	220088052	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.119000	0.94362	1.969000	0.57287	0.533000	0.62120	AAC	-	pfam_Na+channel_ASC,prints_Na+channel_ASC		0.682	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	protein_coding	OTTHUMT00000130263.1	A	NM_018674	-		220379808	1	no_errors	ENST00000347842	ensembl	human	known	74_37	missense	SNP	1.000	G	G	220379808	A	G	220379808	3	3	111	1	0	0	0	0	1	0	0	0	131	43	2	5	745	5	ACCN4	2	220379808	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	39549177	220379808	22819565	14	7382											
ITPR1	3708	genome.wustl.edu	37	chr3	4856236	4856236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagatgtactcaggaagcCgtccaaagaggtaaattaat	11	6	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:4856236C>A	ENST00000443694.2	+	55	7646	c.7646C>A	c.(7645-7647)cCg>cAg	p.P2549Q	AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.P2516Q|ITPR1_ENST00000544951.1_Missense_Mutation_p.P527Q|ITPR1_ENST00000354582.6_Missense_Mutation_p.P2549Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.P2501Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.P2549Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.P2516Q|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2564					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)	CTCAGGAAGCCGTCCAAAGAG	0.562																																																	0								ENSG00000150995						53	55	55					3																	4856236		1987	4142	6129	ITPR1	SO:0001583	missense	0			-	HGNC	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.7646C>A	3.37:g.4856236C>A	ENSP00000401671:p.Pro2549Gln	Somatic	0	28	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.P2549Q	ENST00000443694.2	37	c.7646	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878249	0.91664	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97811	-2.97;-2.97;-2.97;-2.97;-2.97;-4.55;-2.97	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98880	0.9621	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.995	D	0.99564	1.0969	10	0.54805	T	0.06	.	18.157	0.89694	0.0:1.0:0.0:0.0	.	527;2564;2516	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Q	2564;2549;2549;2516;1010;2516;2501;527;2549	ENSP00000306253:P2549Q;ENSP00000346595:P2549Q;ENSP00000405934:P2516Q;ENSP00000349597:P2516Q;ENSP00000397885:P2501Q;ENSP00000440564:P527Q;ENSP00000401671:P2549Q	ENSP00000306253:P2549Q	P	+	2	0	ITPR1	4831236	1.000000	0.71417	0.940000	0.37924	0.951000	0.60555	7.414000	0.80117	2.269000	0.75478	0.650000	0.86243	CCG	-	pfam_Ion_trans_dom		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	C	NM_002222	-		4856236	1	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4856236	C	A	4856236	3	1	111	1	0	0	0	0	1	0	0	0	7922	652	23	3	7913	3	ITPR1	3	4856236	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09		4856236	193166194	15	7383											
CNOT10	25904	genome.wustl.edu	37	chr3	32805973	32805973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggtgaaaatgaagcaAtggaatcctgtaagtaagaa	10	4	0	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:32805973A>G	ENST00000328834.5	+	16	2183	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	CNOT10_ENST00000331889.6_Missense_Mutation_p.M596V|CNOT10_ENST00000454516.2_Missense_Mutation_p.M683V	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	623					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|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 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)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAATGAAGCAATGGAATCCTG	0.388																																																	0								ENSG00000182973						125	128	127					3																	32805973		2203	4300	6503	CNOT10	SO:0001583	missense	0			-	HGNC	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1867A>G	3.37:g.32805973A>G	ENSP00000330060:p.Met623Val	Somatic	0	118	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	4	95.70	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat	p.M683V	ENST00000328834.5	37	c.2047	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	A	4.603	0.112039	0.08831	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516	T;T;T	0.29397	1.58;1.58;1.57	5.97	5.97	0.96955	Tetratricopeptide-like helical (1);	0.121633	0.85682	D	0.000000	T	0.16471	0.0396	N	0.04508	-0.205	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.13683	-1.0500	10	0.17369	T	0.5	-24.5806	16.4608	0.84044	1.0:0.0:0.0:0.0	.	683;596;622;623	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	V	596;623;683	ENSP00000329376:M596V;ENSP00000330060:M623V;ENSP00000399862:M683V	ENSP00000330060:M623V	M	+	1	0	CNOT10	32780977	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.221000	0.65272	2.288000	0.76882	0.533000	0.62120	ATG	-	NULL		0.388	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	protein_coding	OTTHUMT00000253248.2	A	NM_015442	-		32805973	1	no_errors	ENST00000454516	ensembl	human	known	74_37	missense	SNP	1.000	G	G	32805973	A	G	32805973	3	3	111	1	0	0	0	0	1	0	0	0	3620	101	4	5	1929	5	CNOT10	3	32805973	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	27949737	32805973	165216457	16	7384											
PTPRG	5793	genome.wustl.edu	37	chr3	61975440	61975440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgatggcttcgacaatgagtCttctaacaaaacctggatga	9	9	2	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:61975440C>T	ENST00000474889.1	+	3	709	c.332C>T	c.(331-333)tCt>tTt	p.S111F	PTPRG_ENST00000295874.10_Missense_Mutation_p.S111F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	111	Alpha-carbonic anhydrase.				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)			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)		GACAATGAGTCTTCTAACAAA	0.453																																																	0								ENSG00000144724						94	86	89					3																	61975440		2203	4300	6503	PTPRG	SO:0001583	missense	0			-	HGNC	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.332C>T	3.37:g.61975440C>T	ENSP00000418112:p.Ser111Phe	Somatic	0	84	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S111F	ENST00000474889.1	37	c.332	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908775	0.92107	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.68181	-0.31;-0.31	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.113799	0.64402	D	0.000008	T	0.78710	0.4326	L	0.42632	1.34	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.83275	0.996;0.916	T	0.78989	-0.1986	10	0.87932	D	0	.	20.2995	0.98608	0.0:1.0:0.0:0.0	.	111;111	P23470-2;P23470	.;PTPRG_HUMAN	F	111	ENSP00000418112:S111F;ENSP00000295874:S111F	ENSP00000295874:S111F	S	+	2	0	PTPRG	61950480	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.433000	0.80362	2.799000	0.96334	0.655000	0.94253	TCT	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.453	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841	-		61975440	1	no_errors	ENST00000474889	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61975440	C	T	61975440	3	4	111	1	0	0	0	0	1	0	0	0	12810	913	32	2	342	2	PTPRG	3	61975440	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	29169467	61975440	136046990	17	7385											
KIAA2018	205717	genome.wustl.edu	37	chr3	113379809	113379809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgattcgctttcagaggtGggaagctcgagaatactctg	12	7	2	3	rs373412362		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:113379809G>A	ENST00000478658.1	-	5	737	c.720C>T	c.(718-720)ccC>ccT	p.P240P	KIAA2018_ENST00000316407.4_Silent_p.P240P|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	240						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTCAGAGGTGGGAAGCTCGA	0.483																																																	0								ENSG00000176542						56	56	56					3																	113379809		1942	4139	6081	KIAA2018	SO:0001819	synonymous_variant	0			-	HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.720C>T	3.37:g.113379809G>A		Somatic	0	32	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P240	ENST00000478658.1	37	c.720	CCDS43133.1	3																																																																																			-	NULL		0.483	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	G	NM_001009899	-		113379809	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	silent	SNP	1.000	A	A	113379809	G	A	113379809	2	1	111	1	0	0	0	0	0	0	0	1	8270	1335	47	2		2	KIAA2018	3	113379809	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	51404369	113379809	84642621	18	7386											
CASR	846	genome.wustl.edu	37	chr3	122002947	122002947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccccaccagcttccacCgcaagtggtgggggctcaac	11	15	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:122002947C>T	ENST00000490131.1	+	7	2518	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C	CASR_ENST00000498619.1_Missense_Mutation_p.R726C|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R716C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	716					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTTCCACCGCAAGTGGTG	0.572																																																	0								ENSG00000036828						57	52	54					3																	122002947		2203	4300	6503	CASR	SO:0001583	missense	0			-	HGNC	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2146C>T	3.37:g.122002947C>T	ENSP00000418685:p.Arg716Cys	Somatic	0	17	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.R726C	ENST00000490131.1	37	c.2176	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354476	0.61293	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87412	-2.25;-2.25;-2.25	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.93191	0.6583	10	0.52906	T	0.07	.	14.4089	0.67101	0.1473:0.8527:0.0:0.0	.	726;716	E7ENE0;P41180	.;CASR_HUMAN	C	716;726;716	ENSP00000418685:R716C;ENSP00000420194:R726C;ENSP00000296154:R716C	ENSP00000296154:R716C	R	+	1	0	CASR	123485637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.878000	0.56130	2.873000	0.98535	0.561000	0.74099	CGC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.572	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	protein_coding	OTTHUMT00000355761.1	C	NM_000388	-		122002947	1	no_errors	ENST00000498619	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122002947	C	T	122002947	3	4	111	1	0	0	0	0	1	0	0	0	2684	652	23	1	2198	1	CASR	3	122002947	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	8623138	122002947	76019483	19	7387											
TXNDC6	347736	genome.wustl.edu	37	chr3	138023764	138023764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcacgggggcccatgaCggttcgccaggtagtgacca	17	11	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:138023764C>T	ENST00000333911.3	-	9	769	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	NME9_ENST00000341790.5_Missense_Mutation_p.V185I|NME9_ENST00000317876.4_Missense_Mutation_p.V187I|NME9_ENST00000484930.1_Missense_Mutation_p.V185I|NME9_ENST00000383180.2_Missense_Mutation_p.V187I|NME9_ENST00000536478.1_Missense_Mutation_p.V187I			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	248	NDK.				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)	p.V187I(1)									GGGCCCATGACGGTTCGCCAG	0.567																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000181322						154	136	142					3																	138023764		2203	4300	6503	NME9	SO:0001583	missense	0			-	HGNC	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.742G>A	3.37:g.138023764C>T	ENSP00000335444:p.Val248Ile	Somatic	0	26	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	0	100.00	Q7Z4A8|Q8N1V7	Missense_Mutation	SNP							pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.V248I	ENST00000333911.3	37	c.742		3	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.057225	0.01965	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.17	-5.46	0.02608	.	0.663621	0.15634	N	0.252247	T	0.17195	0.0413	.	.	.	0.09310	N	1	B;B;B	0.24576	0.0;0.106;0.001	B;B;B	0.17098	0.001;0.017;0.002	T	0.22800	-1.0206	9	0.13853	T	0.58	-1.9792	1.265	0.02009	0.4589:0.1277:0.1383:0.2751	.	185;248;187	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	I	187;187;185;185;187;248	ENSP00000372667:V187I;ENSP00000321929:V187I;ENSP00000419882:V185I;ENSP00000341084:V185I;ENSP00000440143:V187I;ENSP00000335444:V248I	ENSP00000321929:V187I	V	-	1	0	TXNDC6	139506454	0.182000	0.23173	0.002000	0.10522	0.000000	0.00434	0.500000	0.22562	-0.789000	0.04498	-4.357000	0.00007	GTC	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.567	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	protein_coding	OTTHUMT00000357583.1	C	NM_178130	-		138023764	-1	no_errors	ENST00000333911	ensembl	human	known	74_37	missense	SNP	0.033	T	T	138023764	C	T	138023764	3	4	111	1	0	0	0	0	1	0	0	0	16807	536	19	1	244	1	TXNDC6	3	138023764	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	16020817	138023764	59998666	20	7388											
GPR87	53836	genome.wustl.edu	37	chr3	151011993	151011993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataatatatgcgaacttcCgatcttctcacactttgcag	5	11	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr3:151011993C>T	ENST00000260843.4	-	3	1505	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	347					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCGAACTTCCGATCTTCTCA	0.338																																																	0								ENSG00000138271						155	157	156					3																	151011993		2203	4300	6503	GPR87	SO:0001819	synonymous_variant	0			-	HGNC	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.1041G>A	3.37:g.151011993C>T		Somatic	0	46	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	9	75.68	Q5KU35|Q96JZ8|Q9BXC2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.S347	ENST00000260843.4	37	c.1041	CCDS3157.1	3																																																																																			-	NULL		0.338	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	protein_coding	OTTHUMT00000357788.1	C		-		151011993	-1	no_errors	ENST00000260843	ensembl	human	known	74_37	silent	SNP	0.001	T	T	151011993	C	T	151011993	2	4	111	1	0	0	0	0	0	0	0	1	6718	639	23	1		1	GPR87	3	151011993	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	12988229	151011993	47010437	21	7389											
CSN2	1447	genome.wustl.edu	37	chr4	70823108	70823108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcacagctctctgagGgtagggcaccacttgctggg	14	11	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:70823108G>T	ENST00000353151.3	-	5	570	c.559C>A	c.(559-561)Cct>Act	p.P187T		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCTCTCTGAGGGTAGGGCACC	0.572																																																	0								ENSG00000135222						70	69	69					4																	70823108		2203	4300	6503	CSN2	SO:0001583	missense	0			-	HGNC	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.559C>A	4.37:g.70823108G>T	ENSP00000341030:p.Pro187Thr	Somatic	0	42	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP							pfam_Casein,pirsf_Casein_beta	p.P187T	ENST00000353151.3	37	c.559	CCDS3532.1	4	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184972	0.38609	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.78	-1.38	0.09027	.	1.144020	0.06511	N	0.738113	T	0.36166	0.0957	L	0.57536	1.79	0.09310	N	1	B	0.29955	0.263	B	0.34093	0.175	T	0.42275	-0.9461	9	0.59425	D	0.04	.	1.0923	0.01665	0.1663:0.2671:0.2937:0.273	.	187	P05814	CASB_HUMAN	T	187	.	ENSP00000341030:P187T	P	-	1	0	CSN2	70857697	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.160000	0.10041	-0.315000	0.08703	-0.181000	0.13052	CCT	-	pfam_Casein,pirsf_Casein_beta		0.572	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	protein_coding	OTTHUMT00000251565.1	G		-		70823108	-1	no_errors	ENST00000353151	ensembl	human	known	74_37	missense	SNP	0.000	T	T	70823108	G	T	70823108	3	4	111	1	0	0	0	0	1	0	0	0	3950	1232	43	3	129	3	CSN2	4	70823108	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		70823108	120331168	22	7390											
ENOPH1	58478	genome.wustl.edu	37	chr4	83378094	83378094	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatggtcactttgataccaaGattggacacaaagtagagag	11	6	1	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:83378094G>T	ENST00000273920.3	+	5	817	c.549G>T	c.(547-549)aaG>aaT	p.K183N	ENOPH1_ENST00000509635.1_Missense_Mutation_p.K95N	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TTGATACCAAGATTGGACACA	0.423																																																	0								ENSG00000145293						162	150	154					4																	83378094		2203	4300	6503	ENOPH1	SO:0001583	missense	0			-	HGNC		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"Enolase-phosphatase E1", "acireductone synthase"					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.549G>T	4.37:g.83378094G>T	ENSP00000273920:p.Lys183Asn	Somatic	0	73	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		Missense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA	p.K183N	ENST00000273920.3	37	c.549	CCDS3594.1	4	.	.	.	.	.	.	.	.	.	.	g	8.956	0.969472	0.18659	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05996	3.36;3.36	5.37	3.64	0.41730	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.154621	0.64402	D	0.000020	T	0.02230	0.0069	N	0.04148	-0.265	0.35643	D	0.811102	B	0.12630	0.006	B	0.11329	0.006	T	0.37731	-0.9693	10	0.11485	T	0.65	-17.4936	1.8802	0.03226	0.1962:0.1554:0.4882:0.1601	.	183	Q9UHY7	ENOPH_HUMAN	N	183;183;95	ENSP00000273920:K183N;ENSP00000422005:K95N	ENSP00000273920:K183N	K	+	3	2	ENOPH1	83597118	0.980000	0.34600	1.000000	0.80357	0.942000	0.58702	0.124000	0.15728	0.749000	0.32854	0.585000	0.79938	AAG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA		0.423	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOPH1	protein_coding	OTTHUMT00000252638.2	G	NM_021204	-		83378094	1	no_errors	ENST00000273920	ensembl	human	known	74_37	missense	SNP	0.997	T	T	83378094	G	T	83378094	3	4	111	1	0	0	0	0	1	0	0	0	5126	933	33	3	567	3	ENOPH1	4	83378094	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	12554986	83378094	107776182	23	7391											
LRBA	987	genome.wustl.edu	37	chr4	151392869	151392869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagccttaaaaagctgacGtggactagctaatgaaatac	9	7	0	3	rs200164280		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:151392869G>A	ENST00000357115.3	-	44	6850	c.6607C>T	c.(6607-6609)Cgt>Tgt	p.R2203C	LRBA_ENST00000510413.1_Missense_Mutation_p.R2192C|LRBA_ENST00000535741.1_Missense_Mutation_p.R2192C|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.R2192C	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2203	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					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)					AAAAGCTGACGTGGACTAGCT	0.333																																																	0								ENSG00000198589						106	107	107					4																	151392869		2203	4300	6503	LRBA	SO:0001583	missense	0			-	HGNC	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.6607C>T	4.37:g.151392869G>A	ENSP00000349629:p.Arg2203Cys	Somatic	0	58	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	5	83.87	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.R2203C	ENST00000357115.3	37	c.6607	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472046	0.43942	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.28	4.44	0.53790	BEACH domain (3);	0.121846	0.56097	D	0.000035	T	0.75510	0.3859	M	0.84156	2.68	0.58432	D	0.999998	D;P;D	0.89917	1.0;0.797;1.0	P;B;P	0.61874	0.816;0.221;0.895	T	0.77945	-0.2397	10	0.87932	D	0	.	8.2375	0.31636	0.081:0.0:0.7636:0.1553	.	2203;2192;93	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	C	2192;2192;2203;2192	ENSP00000446299:R2192C;ENSP00000421552:R2192C;ENSP00000349629:R2203C;ENSP00000422180:R2192C	ENSP00000349629:R2203C	R	-	1	0	LRBA	151612319	1.000000	0.71417	0.998000	0.56505	0.250000	0.25880	3.960000	0.56752	1.350000	0.45770	-0.142000	0.14014	CGT	-	superfamily_BEACH_dom,pfscan_BEACH_dom		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	G		rs200164280		151392869	-1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	SNP	0.998	A	A	151392869	G	A	151392869	3	1	111	1	0	0	0	0	1	0	0	0	8933	1145	40	1	2044	1	LRBA	4	151392869	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	68014775	151392869	39761407	24	7392											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160251516	160251516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggttaacaatgcatttgGtggaagagcattcagtagta	11	4	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr4:160251516G>T	ENST00000264431.4	+	7	1269	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	284	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)		AATGCATTTGGTGGAAGAGCA	0.368																																																	0								ENSG00000109756						125	118	120					4																	160251516		1866	4110	5976	RAPGEF2	SO:0001583	missense	0			-	HGNC	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.850G>T	4.37:g.160251516G>T	ENSP00000264431:p.Val284Leu	Somatic	0	37	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	D3DP27	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V284L	ENST00000264431.4	37	c.850	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857748	0.71834	.	.	ENSG00000109756	ENST00000264431	T	0.46451	0.87	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	N	0.17594	0.5	0.80722	D	1	B	0.24092	0.097	B	0.33799	0.17	T	0.12915	-1.0529	10	0.39692	T	0.17	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	284	Q9Y4G8	RPGF2_HUMAN	L	284	ENSP00000264431:V284L	ENSP00000264431:V284L	V	+	1	0	RAPGEF2	160470966	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.972000	0.88022	2.894000	0.99253	0.655000	0.94253	GTG	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.368	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	protein_coding	OTTHUMT00000364980.2	G	NM_014247	-		160251516	1	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160251516	G	T	160251516	3	4	111	1	0	0	0	0	1	0	0	0	13052	1261	44	3	876	3	RAPGEF2	4	160251516	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	8858647	160251516	30902760	25	7393											
IRX2	153572	genome.wustl.edu	37	chr5	2749852	2749852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgccgtacgggtggTagctgatggcgccggtcatg	17	12	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:2749852T>C	ENST00000382611.6	-	2	547	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.Y100C|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	100					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GTACGGGTGGTAGCTGATGGC	0.682																																																	0								ENSG00000170561						64	63	63					5																	2749852		2203	4299	6502	IRX2	SO:0001583	missense	0			-	HGNC	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.299A>G	5.37:g.2749852T>C	ENSP00000372056:p.Tyr100Cys	Somatic	0	38	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	82	12.77	Q68A19|Q7Z2I7	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.Y100C	ENST00000382611.6	37	c.299	CCDS3868.1	5	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783135	0.90282	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.73047	-0.49;-0.49;-0.71	5.03	5.03	0.67393	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.75777	2.31	0.80722	D	1	P	0.46784	0.884	P	0.50270	0.636	T	0.81837	-0.0749	10	0.87932	D	0	-16.6173	14.7689	0.69659	0.0:0.0:0.0:1.0	.	100	Q9BZI1	IRX2_HUMAN	C	100;100;7	ENSP00000372056:Y100C;ENSP00000307006:Y100C;ENSP00000426151:Y7C	ENSP00000307006:Y100C	Y	-	2	0	IRX2	2802852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.706000	0.54830	1.899000	0.54978	0.533000	0.62120	TAC	-	superfamily_Homeodomain-like		0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX2	protein_coding	OTTHUMT00000206749.2	T		-		2749852	-1	no_errors	ENST00000302057	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2749852	T	C	2749852	3	2	111	1	0	0	0	0	1	0	0	0	7846	1638	57	5	1128	5	IRX2	5	2749852	Missense_Mutation	SNP	T	TCGA-DX-AATS-01A-12D-A417-09		2749852	178165408	26	7394											
CDH9	1007	genome.wustl.edu	37	chr5	26915756	26915756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accgactccagacatttcagGaacactggcagtgtataagt	9	10	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:26915756G>T	ENST00000231021.4	-	3	677	c.505C>A	c.(505-507)Cct>Act	p.P169T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	169	Cadherin 2. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GACATTTCAGGAACACTGGCA	0.348																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						73	73	73					5																	26915756		2203	4300	6503	CDH9	SO:0001583	missense	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.505C>A	5.37:g.26915756G>T	ENSP00000231021:p.Pro169Thr	Somatic	0	31	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q3B7I5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P169T	ENST00000231021.4	37	c.505	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917784	0.73098	.	.	ENSG00000113100	ENST00000231021	T	0.54866	0.55	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	L	0.58810	1.83	0.58432	D	0.999999	D	0.67145	0.996	D	0.73380	0.98	T	0.67956	-0.5536	9	.	.	.	.	16.74	0.85456	0.0:0.0:1.0:0.0	.	169	Q9ULB4	CADH9_HUMAN	T	169	ENSP00000231021:P169T	.	P	-	1	0	CDH9	26951513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.352000	0.79861	0.650000	0.86243	CCT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.348	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	G	NM_016279	-		26915756	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26915756	G	T	26915756	3	4	111	1	0	0	0	0	1	0	0	0	3119	1174	41	3	1904	3	CDH9	5	26915756	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	24165904	26915756	153999504	27	7395											
MAP1B	4131	genome.wustl.edu	37	chr5	71490469	71490469	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatgtgcttaatccagtcaaGagcagcaaggaaatgcagta	10	7	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:71490469G>T	ENST00000296755.7	+	5	1585	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	429					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)		ATCCAGTCAAGAGCAGCAAGG	0.403																																					Melanoma(17;367 822 11631 31730 47712)												0								ENSG00000131711						140	141	140					5																	71490469		2203	4300	6503	MAP1B	SO:0001583	missense	0			-	HGNC	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.1287G>T	5.37:g.71490469G>T	ENSP00000296755:p.Lys429Asn	Somatic	0	66	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A2BDK5	Missense_Mutation	SNP							pfam_MAP1B_neuraxin	p.K429N	ENST00000296755.7	37	c.1287	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686413	0.47991	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.24908	1.83;1.83;1.83	5.71	3.92	0.45320	.	0.182095	0.38326	N	0.001737	T	0.44540	0.1298	M	0.75615	2.305	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.36601	-0.9741	10	0.87932	D	0	-20.6128	6.7893	0.23692	0.3968:0.0:0.6032:0.0	.	303;429	A2BDK6;P46821	.;MAP1B_HUMAN	N	429;446;303	ENSP00000296755:K429N;ENSP00000423444:K446N;ENSP00000423416:K303N	ENSP00000296755:K429N	K	+	3	2	MAP1B	71526225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.056000	0.30480	0.745000	0.32763	0.563000	0.77884	AAG	-	NULL		0.403	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	G	NM_005909	-		71490469	1	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71490469	G	T	71490469	3	4	111	1	0	0	0	0	1	0	0	0	9230	933	33	3	1305	3	MAP1B	5	71490469	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	44574713	71490469	109424791	28	7396											
RGNEF	64283	genome.wustl.edu	37	chr5	73189057	73189057	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggggaaggacaagtgaatCtgatgaagacaagaggaaag	16	3	1	5			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:73189057C>T	ENST00000426542.2	+	27	3622	c.3602C>T	c.(3601-3603)tCt>tTt	p.S1201F	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.S165F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S1201F|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S888F			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1201					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)										ACAAGTGAATCTGATGAAGAC	0.438																																																	0								ENSG00000214944						76	73	74					5																	73189057		1933	4117	6050	ARHGEF28	SO:0001583	missense	0			-	HGNC		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.3602C>T	5.37:g.73189057C>T	ENSP00000412175:p.Ser1201Phe	Somatic	0	49	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	50.00	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S1201F	ENST00000426542.2	37	c.3602	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722315	0.48728	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.32753	3.03;3.03;3.02;2.78;3.03;3.02;2.86;1.44	4.87	4.0	0.46444	Pleckstrin homology-type (1);	.	.	.	.	T	0.31420	0.0796	M	0.62016	1.91	0.45867	D	0.998722	B;B;B;B;B	0.25955	0.021;0.04;0.085;0.035;0.138	B;B;B;B;B	0.23852	0.022;0.022;0.022;0.048;0.049	T	0.13282	-1.0515	9	0.56958	D	0.05	.	11.3773	0.49735	0.0:0.848:0.0:0.152	.	888;1201;1201;165;1201	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	F	1201;1201;1201;1201;1201;1201;888;165	ENSP00000296794:S1201F;ENSP00000441913:S1201F;ENSP00000441436:S1201F;ENSP00000287898:S1201F;ENSP00000411459:S1201F;ENSP00000412175:S1201F;ENSP00000296799:S888F;ENSP00000421081:S165F	ENSP00000287898:S1201F	S	+	2	0	RP11-428C6.1	73224813	0.940000	0.31905	0.973000	0.42090	0.946000	0.59487	2.020000	0.41010	1.185000	0.42971	0.655000	0.94253	TCT	-	NULL		0.438	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	C		-		73189057	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	0.996	T	T	73189057	C	T	73189057	3	4	111	1	0	0	0	0	1	0	0	0	13291	913	32	2	3708	2	RGNEF	5	73189057	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	1698588	73189057	107726203	29	7397											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101834275	101834275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgctgactaagcagcCcaaaccacagggctgctcca	11	14	0	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:101834275C>A	ENST00000506729.1	-	1	445	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G92C|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G92C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G92C|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G92C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	92	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)		ACTAAGCAGCCCAAACCACAG	0.493																																																	0								ENSG00000205359						105	108	107					5																	101834275		2203	4300	6503	SLCO6A1	SO:0001583	missense	0			-	HGNC	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.274G>T	5.37:g.101834275C>A	ENSP00000421339:p.Gly92Cys	Somatic	0	68	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G92C	ENST00000506729.1	37	c.274	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	C	8.756	0.922396	0.17982	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.52057	0.77;0.77;0.79;0.68;0.68	3.52	-0.517	0.11947	.	1.074830	0.07321	N	0.877573	T	0.37652	0.1011	L	0.29908	0.895	0.09310	N	1	D;P;P	0.56287	0.975;0.733;0.82	P;B;B	0.50934	0.654;0.145;0.325	T	0.18713	-1.0328	10	0.32370	T	0.25	.	0.7819	0.01042	0.1913:0.3972:0.1866:0.2248	.	92;92;92	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	C	92	ENSP00000421339:G92C;ENSP00000369135:G92C;ENSP00000373671:G92C;ENSP00000421990:G92C;ENSP00000369138:G92C	ENSP00000369135:G92C	G	-	1	0	SLCO6A1	101862174	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.135000	0.10420	-0.123000	0.11745	-0.350000	0.07774	GGC	-	NULL		0.493	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	protein_coding	OTTHUMT00000370335.1	C	NM_173488	-		101834275	-1	no_errors	ENST00000379807	ensembl	human	known	74_37	missense	SNP	0.000	A	A	101834275	C	A	101834275	3	1	111	1	0	0	0	0	1	0	0	0	14740	623	22	3	1937	3	SLCO6A1	5	101834275	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	28645218	101834275	79080985	30	7398											
YTHDC2	64848	genome.wustl.edu	37	chr5	112920136	112920136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagacagcagtagttaccCaagtccttgtgctagtcctt	8	11	0	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:112920136C>A	ENST00000161863.4	+	26	3998	c.3785C>A	c.(3784-3786)cCa>cAa	p.P1262Q		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1262	Ser-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTAGTTACCCAAGTCCTTGT	0.418																																																	0								ENSG00000047188						158	139	146					5																	112920136		2202	4300	6502	YTHDC2	SO:0001583	missense	0			-	HGNC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3785C>A	5.37:g.112920136C>A	ENSP00000161863:p.Pro1262Gln	Somatic	0	105	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RP66	Missense_Mutation	SNP							pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1262Q	ENST00000161863.4	37	c.3785	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829953	0.50845	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02579	4.24	5.06	4.19	0.49359	.	0.134024	0.49916	D	0.000123	T	0.05044	0.0135	L	0.43152	1.355	0.80722	D	1	D	0.55385	0.971	P	0.47299	0.543	T	0.37033	-0.9723	10	0.72032	D	0.01	.	12.878	0.58001	0.0:0.9212:0.0:0.0788	.	1262	Q9H6S0	YTDC2_HUMAN	Q	1262;1172	ENSP00000161863:P1262Q	ENSP00000161863:P1262Q	P	+	2	0	YTHDC2	112948035	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.057000	0.49931	2.351000	0.79841	0.591000	0.81541	CCA	-	NULL		0.418	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	protein_coding	OTTHUMT00000250776.2	C	NM_022828	-		112920136	1	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112920136	C	A	112920136	3	1	111	1	0	0	0	0	1	0	0	0	17504	594	21	3	3887	3	YTHDC2	5	112920136	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	11085861	112920136	67995124	31	7399											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140307701	140307701	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccctggaccgggagcagatCagtgaataccaagtcctgat	11	12	1	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:140307701C>A	ENST00000253807.2	+	1	1224	c.1224C>A	c.(1222-1224)atC>atA	p.I408I	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.I408I|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	408	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(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAGATCAGTGAATACC	0.517																																																	0								ENSG00000248383						81	80	80					5																	140307701		2203	4300	6503	PCDHAC1	SO:0001819	synonymous_variant	0			-	HGNC	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1224C>A	5.37:g.140307701C>A		Somatic	0	33	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	Q9Y5F5|Q9Y5I5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I408	ENST00000253807.2	37	c.1224	CCDS4241.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	protein_coding	OTTHUMT00000251798.1	C	NM_018898	-		140307701	1	no_errors	ENST00000253807	ensembl	human	known	74_37	silent	SNP	0.000	A	A	140307701	C	A	140307701	2	1	111	1	0	0	0	0	0	0	0	1	11534	816	29	3		3	PCDHAC1	5	140307701	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	27387565	140307701	40607559	32	7400											
PCDHB2	56133	genome.wustl.edu	37	chr5	140474789	140474789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccccagttttcctagacaaaGaaatacttttgaaaattcca	4	10	0	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:140474789G>C	ENST00000194155.4	+	1	563	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	139	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(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTAGACAAAGAAATACTTTT	0.408																																																	0								ENSG00000112852						29	33	31					5																	140474789		2202	4299	6501	PCDHB2	SO:0001583	missense	0			-	HGNC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.415G>C	5.37:g.140474789G>C	ENSP00000194155:p.Glu139Gln	Somatic	0	54	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q4KMU1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E139Q	ENST00000194155.4	37	c.415	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011474	0.07912	.	.	ENSG00000112852	ENST00000194155	T	0.59364	0.27	4.94	4.06	0.47325	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.54143	0.1840	M	0.62154	1.92	0.09310	N	1	B	0.22746	0.074	B	0.21708	0.036	T	0.49466	-0.8937	9	0.46703	T	0.11	.	10.0108	0.41986	0.1611:0.0:0.8389:0.0	.	139	Q9Y5E7	PCDB2_HUMAN	Q	139	ENSP00000194155:E139Q	ENSP00000194155:E139Q	E	+	1	0	PCDHB2	140454973	0.000000	0.05858	0.995000	0.50966	0.002000	0.02628	-0.114000	0.10757	1.168000	0.42723	0.655000	0.94253	GAA	-	superfamily_Cadherin-like,pfscan_Cadherin		0.408	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	G	NM_018936	-		140474789	1	no_errors	ENST00000194155	ensembl	human	known	74_37	missense	SNP	0.003	C	C	140474789	G	C	140474789	3	2	111	1	0	0	0	0	1	0	0	0	11544	943	33	4	417	4	PCDHB2	5	140474789	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	167088	140474789	40440471	33	7401											
FAT2	2196	genome.wustl.edu	37	chr5	150932823	150932823	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acagggtccgtctccatgacCgtaaagctgtagtaggtctc	11	11	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:150932823C>G	ENST00000261800.5	-	5	4083	c.4071G>C	c.(4069-4071)acG>acC	p.T1357T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12. {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)			TCTCCATGACCGTAAAGCTGT	0.582																																																	0								ENSG00000086570						111	96	101					5																	150932823		2203	4300	6503	FAT2	SO:0001819	synonymous_variant	0			-	HGNC	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.4071G>C	5.37:g.150932823C>G		Somatic	0	83	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	19.51	O75091|Q9NSR7	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T1357	ENST00000261800.5	37	c.4071	CCDS4317.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	C	NM_001447	-		150932823	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	silent	SNP	0.167	G	G	150932823	C	G	150932823	2	3	111	1	0	0	0	0	0	0	0	1	5692	639	23	4		4	FAT2	5	150932823	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	10458034	150932823	29982437	34	7402											
SGCD	6444	genome.wustl.edu	37	chr5	155771523	155771523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagcagtacactcacCaccggagcaccatgcctggc	10	16	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:155771523C>A	ENST00000435422.3	+	2	512	c.25C>A	c.(25-27)Cac>Aac	p.H9N	SGCD_ENST00000337851.4_Missense_Mutation_p.H10N|SGCD_ENST00000517913.1_Missense_Mutation_p.H10N|SGCD_ENST00000447401.1_Missense_Mutation_p.H10N	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	9					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACACTCACCACCGGAGCAC	0.473																																																	0								ENSG00000170624						108	108	108					5																	155771523		1949	4165	6114	SGCD	SO:0001583	missense	0			-	HGNC	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.25C>A	5.37:g.155771523C>A	ENSP00000403003:p.His9Asn	Somatic	0	59	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP							pfam_Sarcoglycan	p.H10N	ENST00000435422.3	37	c.28	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417588	0.42918	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.85556	1.55;-2.0;-2.0;1.55	5.06	4.13	0.48395	.	0.103009	0.64402	D	0.000004	T	0.72606	0.3481	N	0.22421	0.69	0.36543	D	0.871386	B;B;B	0.14012	0.005;0.009;0.0	B;B;B	0.12156	0.003;0.007;0.001	T	0.68500	-0.5392	10	0.19147	T	0.46	-0.7468	9.8192	0.40871	0.219:0.781:0.0:0.0	.	9;10;10	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	N	10;9;10;10	ENSP00000429378:H10N;ENSP00000403003:H9N;ENSP00000338343:H10N;ENSP00000408324:H10N	ENSP00000338343:H10N	H	+	1	0	SGCD	155704101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.840000	0.39230	2.625000	0.88918	0.655000	0.94253	CAC	-	NULL		0.473	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	protein_coding	OTTHUMT00000373469.3	C		-		155771523	1	no_errors	ENST00000337851	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155771523	C	A	155771523	3	1	111	1	0	0	0	0	1	0	0	0	14209	594	21	3	34	3	SGCD	5	155771523	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	4838700	155771523	25143737	35	7403											
SLIT3	6586	genome.wustl.edu	37	chr5	168149295	168149295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccgttgaaggcgtGgacggggatgcacctcagcc	15	14	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr5:168149295G>T	ENST00000519560.1	-	23	2868	c.2449C>A	c.(2449-2451)Cac>Aac	p.H817N	SLIT3_ENST00000404867.3_Missense_Mutation_p.H817N|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.H817N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	817					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAAGGCGTGGACGGGGATG	0.537																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						177	153	161					5																	168149295		2203	4300	6503	SLIT3	SO:0001583	missense	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2449C>A	5.37:g.168149295G>T	ENSP00000430333:p.His817Asn	Somatic	0	65	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.H817N	ENST00000519560.1	37	c.2449	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740745	0.30865	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.56611	0.45;0.45;0.45	4.44	3.56	0.40772	.	0.051479	0.85682	D	0.000000	T	0.32823	0.0842	N	0.03304	-0.355	0.51767	D	0.999939	B	0.26041	0.14	B	0.37239	0.244	T	0.08889	-1.0700	10	0.18710	T	0.47	.	12.6599	0.56808	0.0818:0.0:0.9181:0.0	.	817	O75094	SLIT3_HUMAN	N	817	ENSP00000430333:H817N;ENSP00000332164:H817N;ENSP00000384890:H817N	ENSP00000332164:H817N	H	-	1	0	SLIT3	168081873	1.000000	0.71417	0.942000	0.38095	0.705000	0.40729	2.877000	0.48506	0.834000	0.34852	0.467000	0.42956	CAC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp		0.537	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168149295	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	SNP	0.997	T	T	168149295	G	T	168149295	3	4	111	1	0	0	0	0	1	0	0	0	14749	1348	47	3	2178	3	SLIT3	5	168149295	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	12377772	168149295	12765965	36	7404											
SYCP2L	221711	genome.wustl.edu	37	chr6	10935392	10935392	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagatagttttgcttttttGactgctgaagattctgccca	8	8	1	4			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:10935392G>A	ENST00000283141.6	+	21	2081	c.1785G>A	c.(1783-1785)ttG>ttA	p.L595L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	595						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTGCTTTTTTGACTGCTGAAG	0.348																																																	0								ENSG00000153157						76	71	72					6																	10935392		1794	4074	5868	SYCP2L	SO:0001819	synonymous_variant	0			-	HGNC	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1785G>A	6.37:g.10935392G>A		Somatic	0	106	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	33	46.77	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP							NULL	p.L595	ENST00000283141.6	37	c.1785	CCDS43423.1	6																																																																																			-	NULL		0.348	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	protein_coding	OTTHUMT00000039845.3	G	NM_194299	-		10935392	1	no_errors	ENST00000283141	ensembl	human	known	74_37	silent	SNP	0.876	A	A	10935392	G	A	10935392	2	1	111	1	0	0	0	0	0	0	0	1	15440	1281	45	2		2	SYCP2L	6	10935392	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		10935392	160179675	37	7405											
TFAP2D	83741	genome.wustl.edu	37	chr6	50682937	50682937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctttaacttactccAccaccggcaccgagtttgcg	6	17	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:50682937A>G	ENST00000008391.3	+	2	376	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACTTACTCCACCACCGGCAC	0.552																																																	0								ENSG00000008197						248	198	215					6																	50682937		2203	4300	6503	TFAP2D	SO:0001583	missense	0			-	HGNC	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.148A>G	6.37:g.50682937A>G	ENSP00000008391:p.Thr50Ala	Somatic	0	36	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95		Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C	p.T50A	ENST00000008391.3	37	c.148	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310040	0.23821	.	.	ENSG00000008197	ENST00000008391	D	0.97529	-4.42	5.07	5.07	0.68467	.	0.163691	0.56097	D	0.000036	D	0.86648	0.5983	N	0.08118	0	0.49687	D	0.999812	B	0.02656	0.0	B	0.01281	0.0	D	0.84014	0.0350	10	0.36615	T	0.2	-0.162	10.3804	0.44108	0.9229:0.0:0.0771:0.0	.	50	Q7Z6R9	AP2D_HUMAN	A	50	ENSP00000008391:T50A	ENSP00000008391:T50A	T	+	1	0	TFAP2D	50790896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.123000	0.64703	2.022000	0.59522	0.533000	0.62120	ACC	-	NULL		0.552	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	protein_coding	OTTHUMT00000040881.1	A	NM_172238	-		50682937	1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	SNP	0.999	G	G	50682937	A	G	50682937	3	3	111	1	0	0	0	0	1	0	0	0	15797	159	6	5	154	5	TFAP2D	6	50682937	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	39747545	50682937	120432130	38	7406											
KCNQ5	56479	genome.wustl.edu	37	chr6	73843173	73843173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttttaaggagcgagtgcGcatggctagccccaggggcc	15	10	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:73843173G>A	ENST00000370398.1	+	10	1386	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R445H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R427H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R417H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R436H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R426H|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	426					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R426H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGCGAGTGCGCATGGCTAGC	0.512																																					GBM(142;1375 1859 14391 23261 44706)												1	Substitution - Missense(1)	lung(1)						ENSG00000185760						67	70	69					6																	73843173		2203	4300	6503	KCNQ5	SO:0001583	missense	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1277G>A	6.37:g.73843173G>A	ENSP00000359425:p.Arg426His	Somatic	0	16	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R436H	ENST00000370398.1	37	c.1307	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	30	5.053340	0.93793	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99418	-5.87;-5.82;-5.81;-5.82;-5.87;-5.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.983;0.943;0.975;0.962	D	0.99490	1.0950	10	0.34782	T	0.22	.	18.1396	0.89634	0.0:0.0:1.0:0.0	.	436;445;417;426	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	H	445;445;426;426;436;427;417	ENSP00000345055:R445H;ENSP00000347326:R426H;ENSP00000359425:R426H;ENSP00000385501:R436H;ENSP00000347853:R427H;ENSP00000384453:R417H	ENSP00000345055:R445H	R	+	2	0	KCNQ5	73899894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.601000	0.82783	2.797000	0.96272	0.563000	0.77884	CGC	-	NULL		0.512	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	G	NM_019842	-		73843173	1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73843173	G	A	73843173	3	1	111	1	0	0	0	0	1	0	0	0	8088	1087	38	1	1376	1	KCNQ5	6	73843173	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	23160236	73843173	97271894	39	7407											
ZNF292	23036	genome.wustl.edu	37	chr6	87969974	87969974	+	Frame_Shift_Del	DEL	T	T	-													gaaattgaaagtatgactgcTtcagtggatgttgggaagtt							TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:87969974delT	ENST00000369577.3	+	8	6670	c.6627delT	c.(6625-6627)gctfs	p.A2209fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.A2204fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2209						nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTATGACTGCTTCAGTGGATG	0.378																																																	0								ENSG00000188994						169	168	168					6																	87969974		1873	4096	5969	ZNF292	SO:0001589	frameshift_variant	0				HGNC	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6627delT	6.37:g.87969974delT	ENSP00000358590:p.Ala2209fs	Somatic	0	60	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2210fs	ENST00000369577.3	37	c.6627	CCDS47457.1	6																																																																																			-	NULL		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	protein_coding	OTTHUMT00000376192.2	T	NM_015021			87969974	1	no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_del	DEL	0.779	-	-	87969974	T	-	87969974	7	5	111	1	0	1	0	1	0	0	0	0	17833	1596	56	0	6657	0	ZNF292	6	87969974	Frame_Shift_Del	DEL	T	TCGA-DX-AATS-01A-12D-A417-09	14126801	87969974	83145093	40	7408											
COQ3	51805	genome.wustl.edu	37	chr6	99817499	99817499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcagcttttcatgcaCagctggattggtgcaggcat	10	9	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr6:99817499C>T	ENST00000254759.3	-	7	1111	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M	COQ3_ENST00000369242.1_Missense_Mutation_p.V135M|COQ3_ENST00000369240.1_Missense_Mutation_p.V135M	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	363					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTTTCATGCACAGCTGGATTG	0.398																																																	0								ENSG00000132423						132	138	136					6																	99817499		2203	4300	6503	COQ3	SO:0001583	missense	0			-	HGNC	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1087G>A	6.37:g.99817499C>T	ENSP00000254759:p.Val363Met	Somatic	0	17	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP							pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.V363M	ENST00000254759.3	37	c.1087	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943415	0.18281	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.38401	1.52;1.14;1.14	4.74	2.96	0.34315	.	0.725077	0.11647	N	0.543127	T	0.14270	0.0345	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.26710	-1.0095	10	0.39692	T	0.17	-20.1101	8.6516	0.34038	0.0:0.8161:0.0:0.1839	.	363	Q9NZJ6	COQ3_HUMAN	M	363;135;135	ENSP00000254759:V363M;ENSP00000358245:V135M;ENSP00000358243:V135M	ENSP00000254759:V363M	V	-	1	0	COQ3	99924220	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.577000	0.23758	0.531000	0.28639	-0.157000	0.13467	GTG	-	NULL		0.398	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	protein_coding	OTTHUMT00000041602.1	C	NM_017421	-		99817499	-1	no_errors	ENST00000254759	ensembl	human	known	74_37	missense	SNP	0.001	T	T	99817499	C	T	99817499	3	4	111	1	0	0	0	0	1	0	0	0	3748	478	17	2	26	2	COQ3	6	99817499	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	11847525	99817499	71297568	41	7409											
PMS2	5395	genome.wustl.edu	37	chr7	6029584	6029584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaacattgatatcaacgcAttctaaggcaaaaaagaaaa	6	6	2	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:6029584A>T	ENST00000265849.7	-	10	1096	c.991T>A	c.(991-993)Tgc>Agc	p.C331S	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.C331S|PMS2_ENST00000441476.2_Missense_Mutation_p.C225S	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	331					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATATCAACGCATTCTAAGGCA	0.303			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0								ENSG00000122512						64	60	61					7																	6029584		2201	4300	6501	PMS2	SO:0001583	missense	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	-	HGNC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.991T>A	7.37:g.6029584A>T	ENSP00000265849:p.Cys331Ser	Somatic	0	186	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	159	13.59	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP							pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.C331S	ENST00000265849.7	37	c.991	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	a	17.80	3.478150	0.63849	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.83250	-1.7;-1.7;-1.7	5.64	5.64	0.86602	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	N	0.16130	0.375	0.80722	D	1	B;P;D	0.89917	0.062;0.502;1.0	B;B;D	0.83275	0.01;0.18;0.996	T	0.77768	-0.2464	10	0.09084	T	0.74	-10.6577	15.9006	0.79373	1.0:0.0:0.0:0.0	.	331;331;225	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	S	331;284;225;331	ENSP00000265849:C331S;ENSP00000392843:C225S;ENSP00000384308:C331S	ENSP00000265849:C331S	C	-	1	0	PMS2	5996110	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.619000	0.90938	2.158000	0.67659	0.477000	0.44152	TGC	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N		0.303	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	protein_coding	OTTHUMT00000207353.3	A	NM_000535	-		6029584	-1	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6029584	A	T	6029584	3	4	111	1	0	0	0	0	1	0	0	0	12145	217	8	5	1621	5	PMS2	7	6029584	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09		6029584	153109079	42	7410											
DFNA5	1687	genome.wustl.edu	37	chr7	24742447	24742447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagctgctgcgctatctgGcatttctgcaggagagaaaa	12	9	2	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:24742447G>T	ENST00000342947.3	-	9	1614	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T	DFNA5_ENST00000409970.1_Missense_Mutation_p.P233T|DFNA5_ENST00000545231.1_Missense_Mutation_p.P233T|DFNA5_ENST00000409775.3_Missense_Mutation_p.P397T|DFNA5_ENST00000419307.1_Missense_Mutation_p.P233T	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	397					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCGCTATCTGGCATTTCTGCA	0.493																																					GBM(78;184 1250 20134 20900 23600)												0								ENSG00000105928						80	76	78					7																	24742447		2203	4300	6503	DFNA5	SO:0001583	missense	0			-	HGNC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1189C>A	7.37:g.24742447G>T	ENSP00000339587:p.Pro397Thr	Somatic	0	30	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP							pfam_Gasdermin	p.P397T	ENST00000342947.3	37	c.1189	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200414	0.58126	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000430096	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.86	5.86	0.93980	.	0.228496	0.45606	D	0.000349	T	0.40448	0.1117	M	0.75447	2.3	0.37057	D	0.89787	D	0.76494	0.999	D	0.68765	0.96	T	0.30416	-0.9979	10	0.12430	T	0.62	-16.2293	11.4233	0.49996	0.082:0.0:0.918:0.0	.	397	O60443	DFNA5_HUMAN	T	397;233;233;233;397;17	ENSP00000339587:P397T;ENSP00000401332:P233T;ENSP00000442661:P233T;ENSP00000387119:P233T;ENSP00000386670:P397T;ENSP00000395540:P17T	ENSP00000339587:P397T	P	-	1	0	DFNA5	24708972	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.647000	0.46639	2.937000	0.99478	0.650000	0.86243	CCA	-	pfam_Gasdermin		0.493	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	protein_coding	OTTHUMT00000214060.2	G	NM_004403	-		24742447	-1	no_errors	ENST00000342947	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24742447	G	T	24742447	3	4	111	1	0	0	0	0	1	0	0	0	4456	1203	42	3	309	3	DFNA5	7	24742447	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	18712863	24742447	134396216	43	7411											
SRI	6717	genome.wustl.edu	37	chr7	87849305	87849305	+	Frame_Shift_Del	DEL	A	A	-													acttaccccgcctgggtagtAcccgccgccggcgccaggat							TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:87849305delA	ENST00000265729.2	-	1	89	c.37delT	c.(37-39)tacfs	p.Y14fs	SRI_ENST00000419179.1_Frame_Shift_Del_p.Y14fs|AC003991.3_ENST00000594469.1_RNA|SRI_ENST00000394641.3_Intron|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000490437.1_Intron|SRI_ENST00000431660.1_Intron	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	14					action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					CCTGGGTAGTACCCGCCGCCG	0.756																																																	0								ENSG00000075142						4	5	5					7																	87849305		1889	3758	5647	SRI	SO:0001589	frameshift_variant	0				HGNC	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.37delT	7.37:g.87849305delA	ENSP00000265729:p.Tyr14fs	Somatic	0	22	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A8MTH6|B4DKK2|D6W5Q0	Frame_Shift_Del	DEL							smart_EF_hand_dom,pfscan_EF_hand_dom	p.Y13fs	ENST00000265729.2	37	c.37	CCDS5612.1	7																																																																																			-	NULL		0.756	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRI	protein_coding	OTTHUMT00000253680.1	A	NM_003130			87849305	-1	no_errors	ENST00000265729	ensembl	human	known	74_37	frame_shift_del	DEL	0.995	-	-	87849305	A	-	87849305	7	5	111	1	0	1	0	1	0	0	0	0	15156	391	14	0	591	0	SRI	7	87849305	Frame_Shift_Del	DEL	A	TCGA-DX-AATS-01A-12D-A417-09	63106858	87849305	71289358	44	7412											
SLC25A13	10165	genome.wustl.edu	37	chr7	95814251	95814251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactaacctccagcaacagAacccagaccaaacctgtagg	7	14	0	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:95814251A>G	ENST00000265631.5	-	10	1142	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	SLC25A13_ENST00000542654.1_Missense_Mutation_p.S228P|SLC25A13_ENST00000416240.2_Missense_Mutation_p.S337P			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	336					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCAGCAACAGAACCCAGACCA	0.423																																																	0								ENSG00000004864						102	101	101					7																	95814251		2203	4300	6503	SLC25A13	SO:0001583	missense	0			-	HGNC	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1006T>C	7.37:g.95814251A>G	ENSP00000265631:p.Ser336Pro	Somatic	0	58	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S337P	ENST00000265631.5	37	c.1009	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881718	0.72294	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80123	-1.34;-1.34;-1.34	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.132088	0.52532	D	0.000073	D	0.87752	0.6256	M	0.68728	2.09	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.994	D;D;D	0.71656	0.956;0.974;0.974	D	0.88986	0.3411	10	0.66056	D	0.02	-23.5656	14.5091	0.67772	1.0:0.0:0.0:0.0	.	228;337;336	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	P	336;337;228	ENSP00000265631:S336P;ENSP00000400101:S337P;ENSP00000440484:S228P	ENSP00000265631:S336P	S	-	1	0	SLC25A13	95652187	1.000000	0.71417	0.987000	0.45799	0.912000	0.54170	7.179000	0.77665	2.089000	0.63090	0.482000	0.46254	TCT	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.423	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	protein_coding	OTTHUMT00000059395.2	A	NM_014251	-		95814251	-1	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95814251	A	G	95814251	3	3	111	1	0	0	0	0	1	0	0	0	14483	246	9	5	1057	5	SLC25A13	7	95814251	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	7964946	95814251	63324412	45	7413											
EPHB4	2050	genome.wustl.edu	37	chr7	100410739	100410739	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaccaatcacctcttcaatCttgacgtaggagacatcgat	7	12	4	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:100410739C>A	ENST00000358173.3	-	11	2316	c.1848G>T	c.(1846-1848)aaG>aaT	p.K616N	EPHB4_ENST00000360620.3_Missense_Mutation_p.K616N|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCTTCAATCTTGACGTAGG	0.547																																					GBM(200;2113 3072 25865 52728)												0								ENSG00000196411						184	159	168					7																	100410739		2203	4300	6503	EPHB4	SO:0001583	missense	0			-	HGNC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1848G>T	7.37:g.100410739C>A	ENSP00000350896:p.Lys616Asn	Somatic	0	28	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K616N	ENST00000358173.3	37	c.1848	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342387	0.81911	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.83250	-1.7;-1.7	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	D	0.87541	0.6203	L	0.41027	1.25	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88684	0.3204	10	0.72032	D	0.01	.	16.1311	0.81442	0.0:1.0:0.0:0.0	.	616;616	Q96L35;P54760	.;EPHB4_HUMAN	N	616	ENSP00000353833:K616N;ENSP00000350896:K616N	ENSP00000350896:K616N	K	-	3	2	EPHB4	100248675	0.995000	0.38212	1.000000	0.80357	0.871000	0.50021	0.469000	0.22067	2.479000	0.83701	0.650000	0.86243	AAG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.547	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	protein_coding	OTTHUMT00000347222.1	C	NM_004444	-		100410739	-1	no_errors	ENST00000358173	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100410739	C	A	100410739	3	1	111	1	0	0	0	0	1	0	0	0	5179	912	32	3	1143	3	EPHB4	7	100410739	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	4596488	100410739	58727924	46	7414											
CFTR	1080	genome.wustl.edu	37	chr7	117149156	117149156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttcggcgatgtttttTctggagatttatgttctatg	10	7	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:117149156T>C	ENST00000003084.6	+	3	365	c.233T>C	c.(232-234)tTc>tCc	p.F78S	CFTR_ENST00000454343.1_Missense_Mutation_p.F78S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	78					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CGATGTTTTTTCTGGAGATTT	0.323									Cystic Fibrosis																																								0			GRCh37	CD983595|CI942008	CFTR	D|I		ENSG00000001626						136	146	142					7																	117149156		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.233T>C	7.37:g.117149156T>C	ENSP00000003084:p.Phe78Ser	Somatic	0	69	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	89	14.42	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.F78S	ENST00000003084.6	37	c.233	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761135	0.69763	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91521	-2.86;-2.86;-2.86	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);	0.243895	0.49916	D	0.000131	D	0.86590	0.5969	L	0.31526	0.94	0.39073	D	0.960757	B	0.30406	0.278	B	0.36418	0.224	D	0.84424	0.0573	10	0.22109	T	0.4	-8.4525	15.9174	0.79531	0.0:0.0:0.0:1.0	.	78	P13569	CFTR_HUMAN	S	78	ENSP00000003084:F78S;ENSP00000403677:F78S;ENSP00000389119:F78S	ENSP00000003084:F78S	F	+	2	0	CFTR	116936392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.588000	0.60999	2.165000	0.68154	0.482000	0.46254	TTC	-	superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel		0.323	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	T	NM_000492	-		117149156	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	C	C	117149156	T	C	117149156	3	2	111	1	0	0	0	0	1	0	0	0	3296	1783	62	5	243	5	CFTR	7	117149156	Missense_Mutation	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	16738417	117149156	41989507	47	7415											
ASB10	136371	genome.wustl.edu	37	chr7	150873260	150873260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgcggtggcagggggAggcggggcagcgcttggggc	25	9	0	0	rs74456406		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr7:150873260A>G	ENST00000420175.2	-	5	1367	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	ASB10_ENST00000377867.3_Missense_Mutation_p.L433P|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000422024.1_Missense_Mutation_p.L493P|ASB10_ENST00000434669.1_Missense_Mutation_p.L455P|ASB10_ENST00000275838.1_Missense_Mutation_p.L410P			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	448	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGGGGGAGGCGGGGCAG	0.677																																																	0								ENSG00000146926						21	24	23					7																	150873260		2185	4269	6454	ASB10	SO:0001583	missense	0			-	HGNC	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1343T>C	7.37:g.150873260A>G	ENSP00000391137:p.Leu448Pro	Somatic	0	39	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A0AVH0|Q6ZUL6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L493P	ENST00000420175.2	37	c.1478	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	A	17.22	3.335017	0.60853	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	4.73	4.73	0.59995	SOCS protein, C-terminal (3);	0.000000	0.64402	D	0.000003	D	0.92120	0.7502	M	0.89840	3.065	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	0.93582	0.6913	10	0.87932	D	0	-6.128	13.4192	0.60987	1.0:0.0:0.0:0.0	.	433;448;455	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	P	410;433;493;455;448	ENSP00000275838:L410P;ENSP00000367098:L433P;ENSP00000401369:L493P;ENSP00000398247:L455P;ENSP00000391137:L448P	ENSP00000275838:L410P	L	-	2	0	ASB10	150504193	1.000000	0.71417	0.971000	0.41717	0.161000	0.22273	9.150000	0.94667	1.767000	0.52121	0.533000	0.62120	CTC	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.677	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	protein_coding	OTTHUMT00000347096.3	A	NM_080871	rs74456406		150873260	-1	no_errors	ENST00000422024	ensembl	human	known	74_37	missense	SNP	0.998	G	G	150873260	A	G	150873260	3	3	111	1	0	0	0	0	1	0	0	0	1014	304	11	5	64	5	ASB10	7	150873260	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	33724104	150873260	8265403	48	7416											
MYOM2	9172	genome.wustl.edu	37	chr8	2037929	2037929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggaagggaagtcttaTgtgttccgagtgctgtcagc	13	8	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr8:2037929T>C	ENST00000262113.4	+	15	1884	c.1743T>C	c.(1741-1743)taT>taC	p.Y581Y	MYOM2_ENST00000523438.1_Silent_p.Y6Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	581	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGAAGTCTTATGTGTTCCGAG	0.587																																																	0								ENSG00000036448						143	112	123					8																	2037929		2203	4300	6503	MYOM2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1743T>C	8.37:g.2037929T>C		Somatic	0	58	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	Q7Z3Y2	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y581	ENST00000262113.4	37	c.1743	CCDS5957.1	8																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	T	NM_003970	-		2037929	1	no_errors	ENST00000262113	ensembl	human	known	74_37	silent	SNP	0.551	C	C	2037929	T	C	2037929	2	2	111	1	0	0	0	0	0	0	0	1	10094	1471	51	5		5	MYOM2	8	2037929	Silent	SNP	T	TCGA-DX-AATS-01A-12D-A417-09		2037929	144326093	49	7417											
CSMD3	114788	genome.wustl.edu	37	chr8	113323343	113323343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgttaagctgcccacctgtCtgactgataatatatccatg	7	11	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr8:113323343C>A	ENST00000297405.5	-	50	7993	c.7749G>T	c.(7747-7749)caG>caT	p.Q2583H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2479H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2543H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2513H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2583	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						GCCCACCTGTCTGACTGATAA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						127	109	115					8																	113323343		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.7749G>T	8.37:g.113323343C>A	ENSP00000297405:p.Gln2583His	Somatic	0	58	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q2583H	ENST00000297405.5	37	c.7749	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125381	0.77436	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.76	4.89	0.63831	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77089	0.4079	M	0.79123	2.44	0.46167	D	0.998905	D;D;B	0.76494	0.998;0.999;0.078	D;D;B	0.85130	0.994;0.997;0.236	T	0.77338	-0.2625	10	0.42905	T	0.14	.	10.9388	0.47262	0.0:0.8571:0.0:0.1429	.	2479;2583;2543	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2543;2583;1853;2479;2513	ENSP00000345799:Q2543H;ENSP00000297405:Q2583H;ENSP00000341558:Q1853H;ENSP00000412263:Q2479H;ENSP00000343124:Q2513H	ENSP00000297405:Q2583H	Q	-	3	2	CSMD3	113392519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.362000	0.52314	1.435000	0.47434	0.655000	0.94253	CAG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113323343	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113323343	C	A	113323343	3	1	111	1	0	0	0	0	1	0	0	0	3948	912	32	3	3462	3	CSMD3	8	113323343	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	111285414	113323343	33040679	50	7418											
TSNARE1	203062	genome.wustl.edu	37	chr8	143395764	143395764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttactgcccctctgcGccatgggaagcagcgctctg	11	15	2	0	rs373787442		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr8:143395764G>A	ENST00000307180.3	-	9	1229	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	TSNARE1_ENST00000524325.1_Missense_Mutation_p.A370V|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A370V|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000519651.1_Missense_Mutation_p.A151V	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	371					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTCTGCGCCATGGGAAG	0.532																																																	0								ENSG00000171045	G	VAL/ALA	0,4406		0,0,2203	71	64	66		1112	4.3	0	8		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSNARE1	NM_145003.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	371/514	143395764	1,13005	2203	4300	6503	TSNARE1	SO:0001583	missense	0			-	HGNC			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1112C>T	8.37:g.143395764G>A	ENSP00000303437:p.Ala371Val	Somatic	0	63	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	B7ZLB0|Q14D03	Missense_Mutation	SNP							pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A371V	ENST00000307180.3	37	c.1112	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430382	0.25726	0.0	1.16E-4	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.27	4.27	0.50696	t-SNARE (1);	0.000000	0.32273	U	0.006337	T	0.34571	0.0902	M	0.67953	2.075	0.09310	N	1	D;D;D;D	0.65815	0.995;0.994;0.995;0.995	P;P;P;P	0.54815	0.761;0.574;0.761;0.761	T	0.12837	-1.0532	10	0.40728	T	0.16	.	12.201	0.54326	0.0:0.0:1.0:0.0	.	370;151;371;371	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	V	370;371;370;151	ENSP00000428763:A370V;ENSP00000303437:A371V;ENSP00000427770:A370V;ENSP00000429679:A151V	ENSP00000303437:A371V	A	-	2	0	TSNARE1	143393671	0.000000	0.05858	0.031000	0.17742	0.129000	0.20672	0.472000	0.22116	1.915000	0.55452	0.655000	0.94253	GCG	-	superfamily_t-SNARE		0.532	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	protein_coding		G	NM_145003	-		143395764	-1	no_errors	ENST00000307180	ensembl	human	known	74_37	missense	SNP	0.009	A	A	143395764	G	A	143395764	3	1	111	1	0	0	0	0	1	0	0	0	16637	1087	38	1	449	1	TSNARE1	8	143395764	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	30072421	143395764	2968258	51	7419											
KDM4C	23081	genome.wustl.edu	37	chr9	7165248	7165248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattctgcagagccgagactGtctgaagctgggcccacctg	12	12	2	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr9:7165248G>T	ENST00000381309.3	+	20	3357	c.2792G>T	c.(2791-2793)tGt>tTt	p.C931F	KDM4C_ENST00000428870.2_Missense_Mutation_p.C618F|KDM4C_ENST00000381306.3_Missense_Mutation_p.C931F|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000442236.2_Missense_Mutation_p.C676F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	931	Tudor 1.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCCGAGACTGTCTGAAGCTG	0.458																																																	0								ENSG00000107077						76	76	76					9																	7165248		2203	4300	6503	KDM4C	SO:0001583	missense	0			-	HGNC	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2792G>T	9.37:g.7165248G>T	ENSP00000370710:p.Cys931Phe	Somatic	0	65	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.C931F	ENST00000381309.3	37	c.2792	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535449	0.85812	.	.	ENSG00000107077	ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T	0.19806	2.21;2.12;2.45;3.17;2.58	5.35	5.35	0.76521	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.51332	-0.8719	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	676;931;931	E7EV17;Q9H3R0;Q9H3R0-2	.;KDM4C_HUMAN;.	F	931;931;676;618;308	ENSP00000370710:C931F;ENSP00000370707:C931F;ENSP00000409353:C676F;ENSP00000405739:C618F;ENSP00000400127:C308F	ENSP00000370707:C931F	C	+	2	0	KDM4C	7155248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.101000	0.94219	2.941000	0.99782	0.655000	0.94253	TGT	-	smart_Tudor		0.458	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	protein_coding	OTTHUMT00000051692.1	G	NM_015061	-		7165248	1	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7165248	G	T	7165248	3	4	111	1	0	0	0	0	1	0	0	0	8132	1377	48	3	2958	3	KDM4C	9	7165248	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		7165248	134048183	52	7420											
FBP2	8789	genome.wustl.edu	37	chr9	97321346	97321346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtacaggctgggtcccCgtggtcgccaagcctcctgc	12	16	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr9:97321346C>T	ENST00000375337.3	-	7	960	c.894G>A	c.(892-894)acG>acA	p.T298T	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	298					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GCTGGGTCCCCGTGGTCGCCA	0.582																																																	0								ENSG00000130957						82	75	78					9																	97321346		2203	4300	6503	FBP2	SO:0001819	synonymous_variant	0			-	HGNC	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.894G>A	9.37:g.97321346C>T		Somatic	0	20	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q17R39|Q6FI53	Silent	SNP							pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.T298	ENST00000375337.3	37	c.894	CCDS6711.1	9																																																																																			-	pfam_FBPase_class-1/SBPase		0.582	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP2	protein_coding	OTTHUMT00000053189.1	C	NM_003837	-		97321346	-1	no_errors	ENST00000375337	ensembl	human	known	74_37	silent	SNP	0.993	T	T	97321346	C	T	97321346	2	4	111	1	0	0	0	0	0	0	0	1	5708	639	23	1		1	FBP2	9	97321346	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	90156098	97321346	43892085	53	7421											
SLC44A1	23446	genome.wustl.edu	37	chr9	108120650	108120650	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccatgattttgatggtgatAatcaggtatatatcaagagt	9	4	2	4			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr9:108120650A>T	ENST00000374720.3	+	7	943	c.696A>T	c.(694-696)atA>atT	p.I232I	SLC44A1_ENST00000343170.7_Silent_p.I24I|SLC44A1_ENST00000374723.1_Silent_p.I232I|SLC44A1_ENST00000374724.1_Silent_p.I232I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	232					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGATGGTGATAATCAGGTATA	0.333																																																	0								ENSG00000070214						222	208	212					9																	108120650		2203	4300	6503	SLC44A1	SO:0001819	synonymous_variant	0			-	HGNC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.696A>T	9.37:g.108120650A>T		Somatic	0	82	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	76	21.43	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP							pfam_Choline_transptr-like	p.I232	ENST00000374720.3	37	c.696	CCDS6763.1	9																																																																																			-	NULL		0.333	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	protein_coding	OTTHUMT00000053500.1	A	NM_080546	-		108120650	1	no_errors	ENST00000374720	ensembl	human	known	74_37	silent	SNP	1.000	T	T	108120650	A	T	108120650	2	4	111	1	0	0	0	0	0	0	0	1	14643	352	13	5		5	SLC44A1	9	108120650	Silent	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	10799304	108120650	33092781	54	7422											
TUBAL3	79861	genome.wustl.edu	37	chr10	5435603	5435603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatgctctcttggcGtacatgaggtcaaacttgtg	11	8	2	2	rs367579573		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:5435603G>A	ENST00000380419.3	-	4	1255	c.1218C>T	c.(1216-1218)taC>taT	p.Y406Y	TUBAL3_ENST00000479328.1_Silent_p.Y366Y	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	406					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTCTCTTGGCGTACATGAGGT	0.582													g|||	1	0.000199681	8e-04	0	5008	,	,		20863	0		0	False		,,,				2504	0																0								ENSG00000178462	G	,	0,4406		0,0,2203	90	78	82		1098,1218	-6.3	0.9	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TUBAL3	NM_001171864.1,NM_024803.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/407,406/447	5435603	1,13005	2203	4300	6503	TUBAL3	SO:0001819	synonymous_variant	0			-	HGNC	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1218C>T	10.37:g.5435603G>A		Somatic	0	34	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.Y406	ENST00000380419.3	37	c.1218	CCDS7066.2	10																																																																																			-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin		0.582	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	protein_coding	OTTHUMT00000046548.2	G	NM_024803	-		5435603	-1	no_errors	ENST00000380419	ensembl	human	known	74_37	silent	SNP	0.975	A	A	5435603	G	A	5435603	2	1	111	1	0	0	0	0	0	0	0	1	16758	1140	40	1		1	TUBAL3	10	5435603	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		5435603	130099144	55	7423											
ARHGAP22	58504	genome.wustl.edu	37	chr10	49654494	49654494	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcctagggtcgaaaaaaaCtcctccatttccctctgcaa	5	14	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:49654494C>G	ENST00000249601.4	-	10	2333	c.2037G>C	c.(2035-2037)gaG>gaC	p.E679D	ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E512D|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E589D|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E520D|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E570D|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E695D|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E685D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	679					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGAAAAAAACTCCTCCATTT	0.517																																																	0								ENSG00000128805						148	139	142					10																	49654494		2203	4300	6503	ARHGAP22	SO:0001583	missense	0			-	HGNC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.2037G>C	10.37:g.49654494C>G	ENSP00000249601:p.Glu679Asp	Somatic	0	70	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E695D	ENST00000249601.4	37	c.2085	CCDS7227.1	10	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677614	0.29783	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.25912	2.84;2.53;1.77;2.17;2.52;2.81;2.85	4.16	1.06	0.20224	.	0.120329	0.56097	D	0.000030	T	0.22322	0.0538	M	0.64630	1.985	0.42331	D	0.992297	B;B;B;B;B;B	0.32693	0.058;0.058;0.037;0.058;0.096;0.38	B;B;B;B;B;B	0.34452	0.017;0.017;0.024;0.017;0.038;0.183	T	0.04537	-1.0944	10	0.48119	T	0.1	.	4.9271	0.13898	0.0:0.5812:0.1685:0.2503	.	685;679;695;679;589;512	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	D	679;570;520;512;589;685;695	ENSP00000249601:E679D;ENSP00000363287:E570D;ENSP00000363285:E520D;ENSP00000422868:E512D;ENSP00000410054:E589D;ENSP00000416701:E685D;ENSP00000412461:E695D	ENSP00000249601:E679D	E	-	3	2	ARHGAP22	49324500	0.265000	0.24102	0.994000	0.49952	0.645000	0.38454	-0.391000	0.07323	0.693000	0.31634	0.491000	0.48974	GAG	-	NULL		0.517	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP22	protein_coding	OTTHUMT00000358767.1	C	NM_021226	-		49654494	-1	no_errors	ENST00000417912	ensembl	human	known	74_37	missense	SNP	0.997	G	G	49654494	C	G	49654494	3	3	111	1	0	0	0	0	1	0	0	0	872	564	20	4	63	4	ARHGAP22	10	49654494	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	44218891	49654494	85880253	56	7424											
CCAR1	55749	genome.wustl.edu	37	chr10	70502216	70502216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatcatatccaacaccaagGtccagtcaacagcaaaccca	5	14	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr10:70502216G>T	ENST00000265872.6	+	6	527	c.408G>T	c.(406-408)agG>agT	p.R136S	CCAR1_ENST00000535016.1_Missense_Mutation_p.R121S|CCAR1_ENST00000543719.1_Missense_Mutation_p.R121S	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	136					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAACACCAAGGTCCAGTCAAC	0.438																																																	0								ENSG00000060339						221	185	197					10																	70502216		2203	4300	6503	CCAR1	SO:0001583	missense	0			-	HGNC	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.408G>T	10.37:g.70502216G>T	ENSP00000265872:p.Arg136Ser	Somatic	0	66	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP							pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.R136S	ENST00000265872.6	37	c.408	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870667	0.51695	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.27256	1.68;1.92;1.92;1.92;1.93	5.82	3.0	0.34707	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.29908	0.895	0.49687	D	0.999812	B;P;P	0.47106	0.435;0.89;0.808	B;B;P	0.46825	0.204;0.419;0.528	T	0.01472	-1.1346	10	0.51188	T	0.08	-11.4349	7.8116	0.29234	0.2028:0.1248:0.6724:0.0	.	121;136;110	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	S	136;121;136;121;121;110	ENSP00000265872:R136S;ENSP00000441820:R121S;ENSP00000445254:R121S;ENSP00000439252:R121S;ENSP00000438610:R110S	ENSP00000265872:R136S	R	+	3	2	CCAR1	70172222	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.315000	0.19451	0.391000	0.25143	0.563000	0.77884	AGG	-	superfamily_NA-bd_OB-fold		0.438	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	protein_coding	OTTHUMT00000048356.2	G	NM_018237	-		70502216	1	no_errors	ENST00000265872	ensembl	human	known	74_37	missense	SNP	0.995	T	T	70502216	G	T	70502216	3	4	111	1	0	0	0	0	1	0	0	0	2732	1252	44	3	426	3	CCAR1	10	70502216	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	20847722	70502216	65032531	57	7425											
ART1	417	genome.wustl.edu	37	chr11	3685362	3685362	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagtctggtctttgctGctgctgctctggttcctcgt	11	12	4	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:3685362G>T	ENST00000250693.1	+	5	1028	c.927G>T	c.(925-927)ctG>ctT	p.L309L	Y_RNA_ENST00000363331.1_RNA|Y_RNA_ENST00000364409.1_RNA	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	309					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		GGTCTTTGCTGCTGCTGCTCT	0.577																																																	0								ENSG00000129744						144	114	124					11																	3685362		2201	4298	6499	ART1	SO:0001819	synonymous_variant	0			-	HGNC	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.927G>T	11.37:g.3685362G>T		Somatic	0	19	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q6NTD2|Q96KT9	Silent	SNP							pfam_ART,prints_ART	p.L309	ENST00000250693.1	37	c.927	CCDS7744.1	11																																																																																			-	NULL		0.577	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	protein_coding	OTTHUMT00000032765.1	G	NM_004314	-		3685362	1	no_errors	ENST00000250693	ensembl	human	known	74_37	silent	SNP	0.613	T	T	3685362	G	T	3685362	2	4	111	1	0	0	0	0	0	0	0	1	997	1306	46	3		3	ART1	11	3685362	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		3685362	131321154	58	7426											
MRGPRX1	259249	genome.wustl.edu	37	chr11	18956293	18956293	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagttccgttgattggTgtcagttctgtgtccaaggt	11	9	3	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:18956293T>G	ENST00000302797.3	-	1	263	c.39A>C	c.(37-39)acA>acC	p.T13T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	13					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGTTGATTGGTGTCAGTTCTG	0.517																																																	0								ENSG00000170255						273	260	264					11																	18956293		2194	4286	6480	MRGPRX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.39A>C	11.37:g.18956293T>G		Somatic	0	76	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	67	10.67	Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T13	ENST00000302797.3	37	c.39	CCDS7846.1	11																																																																																			-	NULL		0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	protein_coding	OTTHUMT00000369913.1	T	NM_147199	-		18956293	-1	no_errors	ENST00000302797	ensembl	human	known	74_37	silent	SNP	0.001	G	G	18956293	T	G	18956293	2	3	111	1	0	0	0	0	0	0	0	1	9768	1683	59	5		5	MRGPRX1	11	18956293	Silent	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	15270931	18956293	116050223	59	7427											
ALX4	60529	genome.wustl.edu	37	chr11	44289129	44289129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgcatctgcccaaaaCgctcccgcttcctccacttg	6	19	1	0	rs368050443		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:44289129C>T	ENST00000329255.3	-	3	924	c.821G>A	c.(820-822)cGt>cAt	p.R274H		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	274					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R274H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCCAAAACGCTCCCGCTT	0.597																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000052850	C	HIS/ARG	0,4406		0,0,2203	179	146	157		821	4.9	1	11		157	1,8597	1.2+/-3.3	0,1,4298	no	missense	ALX4	NM_021926.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	274/412	44289129	1,13003	2203	4299	6502	ALX4	SO:0001583	missense	0			-	HGNC	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.821G>A	11.37:g.44289129C>T	ENSP00000332744:p.Arg274His	Somatic	0	60	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	9	86.76	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.R274H	ENST00000329255.3	37	c.821	CCDS31468.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.646267	0.96704	0.0	1.16E-4	ENSG00000052850	ENST00000329255	D	0.92965	-3.14	4.88	4.88	0.63580	Homeobox (1);Homeodomain-like (1);	0.116529	0.64402	D	0.000018	D	0.95853	0.8650	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96120	0.9084	10	0.87932	D	0	.	18.578	0.91162	0.0:1.0:0.0:0.0	.	274	Q9H161	ALX4_HUMAN	H	274	ENSP00000332744:R274H	ENSP00000332744:R274H	R	-	2	0	ALX4	44245705	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.817000	0.69229	2.700000	0.92200	0.462000	0.41574	CGT	-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.597	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	protein_coding	OTTHUMT00000390399.1	C		-		44289129	-1	no_errors	ENST00000329255	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44289129	C	T	44289129	3	4	111	1	0	0	0	0	1	0	0	0	558	536	19	1	422	1	ALX4	11	44289129	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	25332836	44289129	90717387	60	7428											
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65547285	65547285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatcgccctcctccactaGtgtccaatcccagggaccac	6	19	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:65547285G>T	ENST00000532090.2	-	2	889	c.679C>A	c.(679-681)Cta>Ata	p.L227I		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	227	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						TCCTCCACTAGTGTCCAATCC	0.667																																																	0								ENSG00000254470						41	50	47					11																	65547285		2049	4171	6220	AP5B1	SO:0001583	missense	0			-	HGNC	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.679C>A	11.37:g.65547285G>T	ENSP00000454303:p.Leu227Ile	Somatic	0	54	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP							NULL	p.L227I	ENST00000532090.2	37	c.679	CCDS58146.1	11																																																																																			-	NULL		0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	protein_coding	OTTHUMT00000390636.2	G	NM_138368	-		65547285	-1	no_errors	ENST00000532090	ensembl	human	novel	74_37	missense	SNP	0.014	T	T	65547285	G	T	65547285	3	4	111	1	0	0	0	0	1	0	0	0	4545	1020	36	3	1961	3	DKFZp761E198	11	65547285	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	21258156	65547285	69459231	61	7429											
FAM168A	23201	genome.wustl.edu	37	chr11	73122448	73122448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtacctacctgggcataCagattctgctgggggtaggc	13	10	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:73122448C>T	ENST00000064778.4	-	6	722	c.438G>A	c.(436-438)ctG>ctA	p.L146L	FAM168A_ENST00000356467.4_Silent_p.L137L|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000536855.1_RNA|RP11-809N8.4_ENST00000542598.1_RNA			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	146										endometrium(3)|kidney(1)|lung(1)	5						CCTGGGCATACAGATTCTGCT	0.572																																																	0								ENSG00000054965						90	90	90					11																	73122448		1931	4115	6046	FAM168A	SO:0001819	synonymous_variant	0			-	HGNC	BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"tongue cancer chemotherapy resistance-associated protein 1"		"KIAA0280"	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.438G>A	11.37:g.73122448C>T		Somatic	0	29	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A2ICY2|A2ID81|Q86UG2	Silent	SNP							NULL	p.L146	ENST00000064778.4	37	c.438		11																																																																																			-	NULL		0.572	FAM168A-003	KNOWN	basic	protein_coding	FAM168A	protein_coding	OTTHUMT00000397424.1	C	NM_015159	-		73122448	-1	no_errors	ENST00000064778	ensembl	human	known	74_37	silent	SNP	1.000	T	T	73122448	C	T	73122448	2	4	111	1	0	0	0	0	0	0	0	1	5487	465	17	2		2	FAM168A	11	73122448	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	7575163	73122448	61884068	62	7430											
FAT3	120114	genome.wustl.edu	37	chr11	92533566	92533566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcggaagcagcggatggagCctctgtacagtctcaatgtg	13	9	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:92533566C>A	ENST00000298047.6	+	9	7404	c.7387C>A	c.(7387-7389)Cct>Act	p.P2463T	FAT3_ENST00000525166.1_Missense_Mutation_p.P2313T|FAT3_ENST00000409404.2_Missense_Mutation_p.P2463T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2463	Cadherin 22. {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)				GCGGATGGAGCCTCTGTACAG	0.493										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						117	113	115					11																	92533566		2021	4189	6210	FAT3	SO:0001583	missense	0			-	HGNC	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.7387C>A	11.37:g.92533566C>A	ENSP00000298047:p.Pro2463Thr	Somatic	0	33	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P2463T	ENST00000298047.6	37	c.7387		11	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020930	0.54576	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51071	0.72;0.72;0.72	5.95	5.95	0.96441	.	.	.	.	.	T	0.38161	0.1030	L	0.38175	1.15	0.80722	D	1	P	0.36959	0.575	B	0.33620	0.167	T	0.16305	-1.0407	9	0.35671	T	0.21	.	14.5295	0.67915	0.0:0.9306:0.0:0.0694	.	2463	Q8TDW7-3	.	T	2463;2463;2313	ENSP00000298047:P2463T;ENSP00000387040:P2463T;ENSP00000432586:P2313T	ENSP00000298047:P2463T	P	+	1	0	FAT3	92173214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.811000	0.55620	2.824000	0.97209	0.655000	0.94253	CCT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92533566	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92533566	C	A	92533566	3	1	111	1	0	0	0	0	1	0	0	0	5693	739	26	3	7421	3	FAT3	11	92533566	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	19411118	92533566	42472950	63	7431											
NPAT	4863	genome.wustl.edu	37	chr11	108043652	108043652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgccttctggaggcgtcaGtgcaactttctcacagttag	11	10	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:108043652G>T	ENST00000278612.8	-	13	2164	c.2059C>A	c.(2059-2061)Ctg>Atg	p.L687M	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	687					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGAGGCGTCAGTGCAACTTTC	0.433																																																	0								ENSG00000149308						62	56	58					11																	108043652		1863	4091	5954	NPAT	SO:0001583	missense	0			-	HGNC	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2059C>A	11.37:g.108043652G>T	ENSP00000278612:p.Leu687Met	Somatic	0	30	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP							smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L687M	ENST00000278612.8	37	c.2059	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	G	1.596	-0.527911	0.04112	.	.	ENSG00000149308	ENST00000278612	T	0.04603	3.59	5.91	-9.22	0.00675	.	0.914133	0.09269	N	0.825482	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	P;B	0.37207	0.587;0.4	B;B	0.32465	0.146;0.077	T	0.31696	-0.9934	10	0.44086	T	0.13	0.0048	7.0801	0.25227	0.1094:0.3133:0.4928:0.0845	.	687;687	B9EG70;Q14207	.;NPAT_HUMAN	M	687	ENSP00000278612:L687M	ENSP00000278612:L687M	L	-	1	2	NPAT	107548862	0.024000	0.19004	0.008000	0.14137	0.030000	0.12068	-1.158000	0.03153	-1.686000	0.01439	-0.795000	0.03280	CTG	-	NULL		0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	protein_coding	OTTHUMT00000389506.2	G	NM_002519	-		108043652	-1	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	SNP	0.001	T	T	108043652	G	T	108043652	3	4	111	1	0	0	0	0	1	0	0	0	10568	1020	36	3	2248	3	NPAT	11	108043652	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	15510086	108043652	26962864	64	7432											
SIK2	23235	genome.wustl.edu	37	chr11	111575769	111575769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttcttgttggtggagcGcctgaaatcacatcggagca	11	8	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:111575769G>A	ENST00000304987.3	+	8	1180	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	336					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGGTGGAGCGCCTGAAATCA	0.463																																																	0								ENSG00000170145						159	149	152					11																	111575769		2201	4297	6498	SIK2	SO:0001583	missense	0			-	HGNC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1007G>A	11.37:g.111575769G>A	ENSP00000305976:p.Arg336His	Somatic	0	40	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R336H	ENST00000304987.3	37	c.1007	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.480411	0.96307	.	.	ENSG00000170145	ENST00000304987	T	0.77877	-1.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90267	0.4305	10	0.87932	D	0	.	19.4443	0.94840	0.0:0.0:1.0:0.0	.	336	Q9H0K1	SIK2_HUMAN	H	336	ENSP00000305976:R336H	ENSP00000305976:R336H	R	+	2	0	SIK2	111080979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	2.700000	0.92200	0.563000	0.77884	CGC	-	pirsf_Ser/Thr_kinase_SIK1/2		0.463	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	protein_coding	OTTHUMT00000319352.3	G	NM_015191	-		111575769	1	no_errors	ENST00000304987	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111575769	G	A	111575769	3	1	111	1	0	0	0	0	1	0	0	0	14326	1087	38	1	1037	1	SIK2	11	111575769	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	3532117	111575769	23430747	65	7433											
IL10RA	3587	genome.wustl.edu	37	chr11	117864852	117864852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagaggagtgcatctccCtcaccaggcagtgtgagtca	11	11	3	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:117864852C>A	ENST00000227752.3	+	5	796	c.676C>A	c.(676-678)Ctc>Atc	p.L226I	IL10RA_ENST00000541785.1_Missense_Mutation_p.L206I|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.L77I	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	226					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GTGCATCTCCCTCACCAGGCA	0.577																																																	0								ENSG00000110324						79	66	70					11																	117864852		2200	4296	6496	IL10RA	SO:0001583	missense	0			-	HGNC	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.676C>A	11.37:g.117864852C>A	ENSP00000227752:p.Leu226Ile	Somatic	0	46	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K6I0|B0YJ27	Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.L226I	ENST00000227752.3	37	c.676	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068906	0.07228	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.39592	1.07;1.07;1.07	5.26	-5.89	0.02282	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.134870	0.06509	N	0.737690	T	0.27169	0.0666	L	0.48362	1.52	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.003	T	0.29488	-1.0010	10	0.11182	T	0.66	-6.3749	5.0797	0.14649	0.3055:0.2235:0.4016:0.0694	.	206;226	F5GYV8;Q13651	.;I10R1_HUMAN	I	226;206;77;206	ENSP00000227752:L226I;ENSP00000441397:L206I;ENSP00000443019:L77I	ENSP00000227752:L226I	L	+	1	0	IL10RA	117370062	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.986000	0.03747	-0.934000	0.03733	-0.150000	0.13652	CTC	-	superfamily_Fibronectin_type3		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	protein_coding	OTTHUMT00000390167.1	C		-		117864852	1	no_errors	ENST00000227752	ensembl	human	known	74_37	missense	SNP	0.000	A	A	117864852	C	A	117864852	3	1	111	1	0	0	0	0	1	0	0	0	7622	681	24	3	694	3	IL10RA	11	117864852	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	6289083	117864852	17141664	66	7434											
ROBO3	64221	genome.wustl.edu	37	chr11	124747470	124747470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcagattcgtggcccCacccatctcgaagcccctcg	11	17	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr11:124747470C>T	ENST00000397801.1	+	20	3094	c.2902C>T	c.(2902-2904)Cac>Tac	p.H968Y	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.H946Y	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	968					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTCGTGGCCCCACCCATCTCG	0.632																																																	0								ENSG00000154134						21	26	24					11																	124747470		2010	4152	6162	ROBO3	SO:0001583	missense	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2902C>T	11.37:g.124747470C>T	ENSP00000380903:p.His968Tyr	Somatic	0	69	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	41	42.25		Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H968Y	ENST00000397801.1	37	c.2902	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985393	0.74474	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.91351	-2.83;-2.83	5.48	5.48	0.80851	.	0.176182	0.27072	N	0.021069	D	0.91358	0.7274	L	0.51422	1.61	0.80722	D	1	D;P	0.58268	0.982;0.93	P;P	0.55455	0.776;0.579	D	0.90746	0.4653	10	0.48119	T	0.1	.	11.8748	0.52541	0.1744:0.8256:0.0:0.0	.	17;968	B4DI90;Q96MS0	.;ROBO3_HUMAN	Y	968;946	ENSP00000380903:H968Y;ENSP00000441797:H946Y	ENSP00000380903:H968Y	H	+	1	0	ROBO3	124252680	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.887000	0.48586	2.566000	0.86566	0.655000	0.94253	CAC	-	NULL		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	C	XM_370663	-		124747470	1	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	SNP	0.998	T	T	124747470	C	T	124747470	3	4	111	1	0	0	0	0	1	0	0	0	13523	594	21	2	2980	2	ROBO3	11	124747470	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	6882618	124747470	10259046	67	7435											
VWF	7450	genome.wustl.edu	37	chr12	6125336	6125336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaccaccgcctttgaggCtcccggcctggcaccatgca	11	16	0	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:6125336C>A	ENST00000261405.5	-	31	5628	c.5374G>T	c.(5374-5376)Gcc>Tcc	p.A1792S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1792	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTTTGAGGCTCCCGGCCTG	0.552																																																	0								ENSG00000110799						84	73	77					12																	6125336		2203	4300	6503	VWF	SO:0001583	missense	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5374G>T	12.37:g.6125336C>A	ENSP00000261405:p.Ala1792Ser	Somatic	0	29	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q8TCE8|Q99806	Missense_Mutation	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A1792S	ENST00000261405.5	37	c.5374	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	11.96	1.795877	0.31777	.	.	ENSG00000110799	ENST00000261405	T	0.79653	-1.29	4.58	3.68	0.42216	von Willebrand factor, type A (3);	0.504572	0.16665	N	0.204610	T	0.76521	0.3999	L	0.54323	1.7	0.28799	N	0.89891	B	0.22746	0.074	B	0.27887	0.084	T	0.70525	-0.4848	10	0.48119	T	0.1	.	10.8695	0.46875	0.3419:0.6581:0.0:0.0	.	1792	P04275	VWF_HUMAN	S	1792	ENSP00000261405:A1792S	ENSP00000261405:A1792S	A	-	1	0	VWF	5995597	0.984000	0.35163	0.236000	0.24074	0.044000	0.14063	2.912000	0.48782	1.122000	0.41944	0.555000	0.69702	GCC	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	C	NM_000552	-		6125336	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	SNP	0.376	A	A	6125336	C	A	6125336	3	1	111	1	0	0	0	0	1	0	0	0	17253	797	28	3	3155	3	VWF	12	6125336	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09		6125336	127726559	68	7436											
YAF2	10138	genome.wustl.edu	37	chr12	42555465	42555465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttccttttcacttttTtctttttctactttatcttt	2	8	4	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:42555465T>C	ENST00000534854.2	-	3	322	c.255A>G	c.(253-255)gaA>gaG	p.E85E	YAF2_ENST00000327791.4_Silent_p.E61E|YAF2_ENST00000380788.3_Silent_p.E76E|YAF2_ENST00000380790.4_Silent_p.E43E|YAF2_ENST00000442791.3_Silent_p.E109E	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	85					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		tttcacttttttctttttcta	0.348																																																	0								ENSG00000015153						100	96	98					12																	42555465		2203	4300	6503	YAF2	SO:0001819	synonymous_variant	0			-	HGNC	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.255A>G	12.37:g.42555465T>C		Somatic	0	79	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	A8K5P0|B4DFU3|G3V465|Q99710	Silent	SNP							pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E109	ENST00000534854.2	37	c.327	CCDS31775.1	12																																																																																			-	NULL		0.348	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	protein_coding	OTTHUMT00000403781.1	T		-		42555465	-1	no_errors	ENST00000442791	ensembl	human	known	74_37	silent	SNP	1.000	C	C	42555465	T	C	42555465	2	2	111	1	0	0	0	0	0	0	0	1	17472	1838	64	5		5	YAF2	12	42555465	Silent	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	36430129	42555465	91296430	69	7437											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43823442	43823442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtccaagaaccatgtcgcCattgtgccatcttttttatg	9	10	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:43823442C>A	ENST00000389420.3	-	24	3466	c.3467G>T	c.(3466-3468)tGg>tTg	p.W1156L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W1156L|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1156	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCATGTCGCCATTGTGCCAT	0.358																																																	0								ENSG00000173157						60	55	57					12																	43823442		2202	4300	6502	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3467G>T	12.37:g.43823442C>A	ENSP00000374071:p.Trp1156Leu	Somatic	0	96	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	73	22.34	A6NNC9|J3QT00	Missense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.W1156L	ENST00000389420.3	37	c.3467	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298740	0.81025	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61158	0.13;0.13	4.89	4.89	0.63831	.	0.276731	0.26341	N	0.024922	D	0.84629	0.5514	H	0.97758	4.07	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.90171	0.4235	10	0.87932	D	0	.	17.918	0.88958	0.0:1.0:0.0:0.0	.	1156	P59510	ATS20_HUMAN	L	1156	ENSP00000374071:W1156L;ENSP00000448341:W1156L	ENSP00000374068:W1156L	W	-	2	0	ADAMTS20	42109709	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.833000	0.69349	2.636000	0.89361	0.591000	0.81541	TGG	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.358	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43823442	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43823442	C	A	43823442	3	1	111	1	0	0	0	0	1	0	0	0	266	595	21	3	2328	3	ADAMTS20	12	43823442	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	1267977	43823442	90028453	70	7438											
OR8S1	341568	genome.wustl.edu	37	chr12	48920302	48920302	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaataaggaagtgaaGgtagctctgaaaagaacttt	10	4	1	4			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:48920302G>A	ENST00000310194.1	+	1	888	c.888G>A	c.(886-888)aaG>aaA	p.K296K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGAAGTGAAGGTAGCTCTGA	0.423																																																	0								ENSG00000197376						41	43	42					12																	48920302		2203	4300	6503	OR8S1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.888+1G>A	12.37:g.48920302G>A		Somatic	0	60	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K296	ENST00000310194.1	37	c.888	CCDS31789.1	12																																																																																			-	prints_GPCR_Rhodpsn		0.423	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	protein_coding	OTTHUMT00000406881.1	G		-	Silent	48920302	1	no_errors	ENST00000310194	ensembl	human	known	74_37	silent	SNP	0.600	A	A	48920302	G	A	48920302	5	1	111	1	0	0	0	0	0	0	1	0	11248	1014	35	2	890	2	OR8S1	12	48920302	Splice_Site	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	5096860	48920302	84931593	71	7439											
R3HDM2	22864	genome.wustl.edu	37	chr12	57648723	57648723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgaggtccgagtggcGgccattctcagcagtcccac	14	14	1	0	rs80342146		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:57648723G>T	ENST00000347140.3	-	24	3154	c.2764C>A	c.(2764-2766)Cgc>Agc	p.R922S	R3HDM2_ENST00000402412.1_Missense_Mutation_p.R936S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R617S|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R922S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R956S|R3HDM2_ENST00000413953.2_Intron			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	922						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCCGAGTGGCGGCCATTCTCA	0.632																																																	0								ENSG00000179912						61	55	57					12																	57648723		2203	4300	6503	R3HDM2	SO:0001583	missense	0			-	HGNC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2764C>A	12.37:g.57648723G>T	ENSP00000317903:p.Arg922Ser	Somatic	0	52	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R922S	ENST00000347140.3	37	c.2764	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197287	0.58126	.	.	ENSG00000179912	ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T	0.44083	0.93;1.92;1.93;1.92;0.93;1.52;1.93	5.32	4.43	0.53597	.	0.197877	0.44285	D	0.000477	T	0.25344	0.0616	N	0.22421	0.69	0.29432	N	0.859812	P;P;B;B	0.38827	0.649;0.649;0.253;0.369	B;B;B;B	0.32090	0.14;0.14;0.097;0.099	T	0.25433	-1.0132	10	0.72032	D	0.01	-9.1262	9.0916	0.36614	0.0777:0.0:0.7761:0.1462	.	956;936;922;649	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	S	649;922;936;922;617;687;956	ENSP00000377400:R649S;ENSP00000317903:R922S;ENSP00000385839:R936S;ENSP00000351784:R922S;ENSP00000408536:R617S;ENSP00000394676:R687S;ENSP00000385169:R956S	ENSP00000317903:R922S	R	-	1	0	R3HDM2	55934990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.709000	0.37909	1.626000	0.50381	0.655000	0.94253	CGC	-	NULL		0.632	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	protein_coding	OTTHUMT00000326570.2	G	NM_014925	-		57648723	-1	no_errors	ENST00000347140	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57648723	G	T	57648723	3	4	111	1	0	0	0	0	1	0	0	0	12896	1116	39	3	170	3	R3HDM2	12	57648723	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	8728421	57648723	76203172	72	7440											
ARHGAP9	64333	genome.wustl.edu	37	chr12	57872884	57872884	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttactcaccaggagtccaGagcaattggccggggatgac	13	11	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:57872884G>T	ENST00000356411.2	-	2	444	c.306C>A	c.(304-306)ctC>ctA	p.L102L	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Silent_p.L181L|ARHGAP9_ENST00000393797.2_Silent_p.L173L|ARHGAP9_ENST00000424809.2_Silent_p.L102L|ARHGAP9_ENST00000393791.3_Silent_p.L102L|ARHGAP9_ENST00000430041.2_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	102					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGGAGTCCAGAGCAATTGGC	0.572																																																	0								ENSG00000123329						151	135	140					12																	57872884		2203	4300	6503	ARHGAP9	SO:0001819	synonymous_variant	0			-	HGNC	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.306C>A	12.37:g.57872884G>T		Somatic	0	38	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.L102	ENST00000356411.2	37	c.306		12																																																																																			-	NULL		0.572	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	protein_coding		G	NM_032496	-		57872884	-1	no_errors	ENST00000356411	ensembl	human	known	74_37	silent	SNP	0.813	T	T	57872884	G	T	57872884	2	4	111	1	0	0	0	0	0	0	0	1	889	929	33	3		3	ARHGAP9	12	57872884	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	224161	57872884	75979011	73	7441											
IRAK3	11213	genome.wustl.edu	37	chr12	66603234	66603234	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccatatttctctttcAggagcagtgttgagtccttc	7	12	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:66603234A>T	ENST00000261233.4	+	3	737		c.e3-1		IRAK3_ENST00000457197.2_Splice_Site	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTTCTCTTTCAGGAGCAGTGT	0.353																																																	0								ENSG00000090376						102	107	105					12																	66603234		2203	4300	6503	IRAK3	SO:0001630	splice_region_variant	0			-	HGNC	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.317-1A>T	12.37:g.66603234A>T		Somatic	0	73	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Splice_Site	SNP							-	e3-2	ENST00000261233.4	37	c.317-2	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454605	0.43634	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4301	0.50034	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRAK3	64889501	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	3.811000	0.55620	2.191000	0.70037	0.533000	0.62120	.	-	-		0.353	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	protein_coding	OTTHUMT00000401908.1	A		-	Intron	66603234	1	no_errors	ENST00000261233	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	66603234	A	T	66603234	5	4	111	1	0	0	0	0	0	0	1	0	7826	202	7	5	325	5	IRAK3	12	66603234	Splice_Site	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	8730350	66603234	67248661	74	7442											
SRRM4	84530	genome.wustl.edu	37	chr12	119568494	119568494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccccaggcaccgcggccGgtcccctgaggaagggcaga	14	16	0	2	rs114691929	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:119568494G>A	ENST00000267260.4	+	8	1014	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	209	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACCGCGGCCGGTCCCCTGAG	0.642													G|||	2	0.000399361	8e-04	0	5008	,	,		13234	0		0.001	False		,,,				2504	0																0								ENSG00000139767	G	GLN/ARG	0,3776		0,0,1888	16	21	19		626	3.3	1	12	dbSNP_132	19	1,8203		0,1,4101	no	missense	SRRM4	NM_194286.3	43	0,1,5989	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging	209/612	119568494	1,11979	1888	4102	5990	SRRM4	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.626G>A	12.37:g.119568494G>A	ENSP00000267260:p.Arg209Gln	Somatic	0	19	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP							NULL	p.R209Q	ENST00000267260.4	37	c.626	CCDS44994.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.2	3.941857	0.73557	0.0	1.22E-4	ENSG00000139767	ENST00000267260	T	0.24350	1.86	5.17	3.32	0.38043	.	0.330045	0.28301	N	0.015859	T	0.16171	0.0389	L	0.31664	0.95	0.31416	N	0.674921	B	0.23490	0.086	B	0.15052	0.012	T	0.12785	-1.0534	10	0.22109	T	0.4	-5.8058	9.674	0.40030	0.1653:0.0:0.8347:0.0	.	209	A7MD48	SRRM4_HUMAN	Q	209	ENSP00000267260:R209Q	ENSP00000267260:R209Q	R	+	2	0	SRRM4	118052877	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.989000	0.29629	1.184000	0.42957	0.448000	0.29417	CGG	-	NULL		0.642	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	protein_coding	OTTHUMT00000401640.2	G	NM_194286	rs114691929		119568494	1	no_errors	ENST00000267260	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119568494	G	A	119568494	3	1	111	1	0	0	0	0	1	0	0	0	15178	1116	39	1	656	1	SRRM4	12	119568494	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	52965260	119568494	14283401	75	7443											
SCARB1	949	genome.wustl.edu	37	chr12	125267313	125267313	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaatggcctccttatcCtttgagccctttttactact	6	13	0	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:125267313C>T	ENST00000415380.2	-	11	1777				SCARB1_ENST00000546215.1_Silent_p.K454K|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000261693.6_Silent_p.K482K|SCARB1_ENST00000376788.1_Silent_p.K382K|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						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)			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)	CCTCCTTATCCTTTGAGCCCT	0.418																																																	0								ENSG00000073060						99	95	96					12																	125267313		2203	4300	6503	SCARB1	SO:0001627	intron_variant	0			-	HGNC	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.1651+3339G>A	12.37:g.125267313C>T		Somatic	0	89	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	42	61.11	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP							pfam_CD36,prints_CD36,prints_CD36_antigen	p.K482	ENST00000415380.2	37	c.1446		12																																																																																			-	NULL		0.418	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	protein_coding	OTTHUMT00000400165.1	C	NM_005505	-		125267313	-1	no_errors	ENST00000261693	ensembl	human	known	74_37	silent	SNP	0.972	T	T	125267313	C	T	125267313	1	4	111	0	1	0	0	0	0	0	0	0	13889	680	24	2		2	SCARB1	12	125267313	Intron	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	5698819	125267313	8584582	76	7444											
ANKLE2	23141	genome.wustl.edu	37	chr12	133324460	133324460	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacaggtccaccacgtaacgGatacgcttctgcagcatggc	10	13	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr12:133324460G>T	ENST00000357997.5	-	5	1277	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	ANKLE2_ENST00000539605.1_Silent_p.I334I|ANKLE2_ENST00000337516.5_Silent_p.I396I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	396					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCACGTAACGGATACGCTTCT	0.532																																																	0								ENSG00000176915						126	135	132					12																	133324460		2182	4262	6444	ANKLE2	SO:0001819	synonymous_variant	0			-	HGNC	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1188C>A	12.37:g.133324460G>T		Somatic	0	63	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP							pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.I396	ENST00000357997.5	37	c.1188	CCDS41869.1	12																																																																																			-	superfamily_Ankyrin_rpt-contain_dom		0.532	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	protein_coding	OTTHUMT00000397712.1	G		-		133324460	-1	no_errors	ENST00000357997	ensembl	human	known	74_37	silent	SNP	0.026	T	T	133324460	G	T	133324460	2	4	111	1	0	0	0	0	0	0	0	1	633	1164	41	3		3	ANKLE2	12	133324460	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	8057147	133324460	527435	77	7445											
OR4N2	390429	genome.wustl.edu	37	chr14	20296162	20296162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgatgtcccacaggtcatCaagctggcctgcaccgacac	10	14	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:20296162C>T	ENST00000315947.1	+	1	555	c.555C>T	c.(553-555)atC>atT	p.I185I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	185						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACAGGTCATCAAGCTGGCCT	0.532																																																	0								ENSG00000176294						143	146	145					14																	20296162		2203	4300	6503	OR4N2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.555C>T	14.37:g.20296162C>T		Somatic	0	151	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	104	8.77	Q6IEY9|Q6IFA2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I185	ENST00000315947.1	37	c.555	CCDS32022.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.532	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	protein_coding	OTTHUMT00000409821.2	C		-		20296162	1	no_errors	ENST00000315947	ensembl	human	known	74_37	silent	SNP	0.991	T	T	20296162	C	T	20296162	2	4	111	1	0	0	0	0	0	0	0	1	11079	816	29	2		2	OR4N2	14	20296162	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09		20296162	87053378	78	7446											
OR4K1	79544	genome.wustl.edu	37	chr14	20404427	20404427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaaattatgaccctaaCgaacagtggcctgatatcat	8	8	1	2	rs200761942		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:20404427C>T	ENST00000285600.4	+	1	661	c.602C>T	c.(601-603)aCg>aTg	p.T201M		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATGACCCTAACGAACAGTGGC	0.448													C|||	1	0.000199681	0	0	5008	,	,		28947	0		0.001	False		,,,				2504	0																0								ENSG00000155249	C	MET/THR	1,4405		0,1,2202	153	155	155		602	5	0.1	14		155	2,8598		0,2,4298	yes	missense	OR4K1	NM_001004063.2	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	201/312	20404427	3,13003	2203	4300	6503	OR4K1	SO:0001583	missense	0			-	HGNC		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.602C>T	14.37:g.20404427C>T	ENSP00000285600:p.Thr201Met	Somatic	0	155	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	108	10.00	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T201M	ENST00000285600.4	37	c.602	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	9.140	1.013546	0.19277	2.27E-4	2.33E-4	ENSG00000155249	ENST00000285600	T	0.00099	8.73	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.213190	0.33290	N	0.005065	T	0.00178	0.0005	L	0.49513	1.565	0.09310	N	1	P	0.48230	0.907	B	0.42112	0.376	T	0.59434	-0.7455	10	0.87932	D	0	.	13.5612	0.61790	0.0:1.0:0.0:0.0	.	201	Q8NGD4	OR4K1_HUMAN	M	201	ENSP00000285600:T201M	ENSP00000285600:T201M	T	+	2	0	OR4K1	19474267	0.000000	0.05858	0.093000	0.20910	0.057000	0.15508	-0.056000	0.11787	2.575000	0.86900	0.563000	0.77884	ACG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	protein_coding	OTTHUMT00000409881.1	C		rs200761942		20404427	1	no_errors	ENST00000285600	ensembl	human	known	74_37	missense	SNP	0.025	T	T	20404427	C	T	20404427	3	4	111	1	0	0	0	0	1	0	0	0	11069	536	19	1	604	1	OR4K1	14	20404427	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	108265	20404427	86945113	79	7447											
OR11H4	390442	genome.wustl.edu	37	chr14	20711361	20711361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgatacctggccatctgCcacccactgcagtaccctgc	8	17	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:20711361C>T	ENST00000315409.2	+	1	464	c.411C>T	c.(409-411)tgC>tgT	p.C137C		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TGGCCATCTGCCACCCACTGC	0.458																																																	0								ENSG00000176198						153	145	148					14																	20711361		2203	4300	6503	OR11H4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.411C>T	14.37:g.20711361C>T		Somatic	0	38	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B2RNQ4|Q6IF07	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C137	ENST00000315409.2	37	c.411	CCDS32034.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H4	protein_coding	OTTHUMT00000410678.1	C		-		20711361	1	no_errors	ENST00000315409	ensembl	human	known	74_37	silent	SNP	0.275	T	T	20711361	C	T	20711361	2	4	111	1	0	0	0	0	0	0	0	1	10930	747	26	2		2	OR11H4	14	20711361	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	306934	20711361	86638179	80	7448											
CHD8	57680	genome.wustl.edu	37	chr14	21869125	21869125	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgggagcgtggccgctcatCatcctcactttccaaatcag	10	14	4	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:21869125C>A	ENST00000557364.1	-	22	4542	c.4279G>T	c.(4279-4281)Gat>Tat	p.D1427Y	CHD8_ENST00000399982.2_Missense_Mutation_p.D1427Y|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.D1148Y			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1427					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCCGCTCATCATCCTCACTT	0.498																																																	0								ENSG00000100888						132	128	129					14																	21869125		1983	4159	6142	CHD8	SO:0001583	missense	0			-	HGNC	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4279G>T	14.37:g.21869125C>A	ENSP00000451601:p.Asp1427Tyr	Somatic	0	44	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1427Y	ENST00000557364.1	37	c.4279	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023721|4.023721	0.75390|0.75390	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.97811|.	-4.55;-4.55;-4.55|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.058491|.	0.64402|.	D|.	0.000002|.	T|.	0.73513|.	0.3596|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;P|.	0.48998|.	0.866;0.918|.	P;P|.	0.60236|.	0.746;0.871|.	T|.	0.72557|.	-0.4257|.	10|.	0.62326|.	D|.	0.03|.	-14.8581|-14.8581	17.33|17.33	0.87259|0.87259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1427;1148|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	Y|L	1148;1427;1147;1427|652	ENSP00000406288:D1148Y;ENSP00000382863:D1427Y;ENSP00000451601:D1427Y|.	ENSP00000262707:D1147Y|.	D|X	-|-	1|2	0|2	CHD8|CHD8	20938965|20938965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.320000|7.320000	0.79064|0.79064	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GAT|TGA	-	NULL		0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	protein_coding	OTTHUMT00000410436.1	C	NM_020920	-		21869125	-1	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21869125	C	A	21869125	3	1	111	1	0	0	0	0	1	0	0	0	3333	826	29	3	3534	3	CHD8	14	21869125	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	1157764	21869125	85480415	81	7449											
OR10G2	26534	genome.wustl.edu	37	chr14	22102287	22102287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaggcccggcgcctccCatcagcggtgcgtatcttca	13	14	3	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:22102287C>A	ENST00000542433.1	-	1	809	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CGGCGCCTCCCATCAGCGGTG	0.537																																																	0								ENSG00000255582						36	38	38					14																	22102287		2188	4262	6450	OR10G2	SO:0001583	missense	0			-	HGNC		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.712G>T	14.37:g.22102287C>A	ENSP00000445383:p.Gly238Trp	Somatic	0	62	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B2RPD0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G238W	ENST00000542433.1	37	c.712	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167403	0.38315	.	.	ENSG00000255582	ENST00000542433	T	0.00304	8.19	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.01029	0.0034	H	0.95328	3.655	0.37270	D	0.907353	D	0.89917	1.0	D	0.97110	1.0	T	0.48293	-0.9048	10	0.87932	D	0	-9.0769	13.4661	0.61254	0.0:1.0:0.0:0.0	.	238	Q8NGC3	O10G2_HUMAN	W	238	ENSP00000445383:G238W	ENSP00000445383:G238W	G	-	1	0	OR10G2	21172127	0.030000	0.19436	0.999000	0.59377	0.315000	0.28087	1.955000	0.40372	2.027000	0.59764	0.557000	0.71058	GGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	protein_coding	OTTHUMT00000401525.1	C		-		22102287	-1	no_errors	ENST00000542433	ensembl	human	known	74_37	missense	SNP	0.997	A	A	22102287	C	A	22102287	3	1	111	1	0	0	0	0	1	0	0	0	10901	594	21	3	223	3	OR10G2	14	22102287	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	233162	22102287	85247253	82	7450											
FAM181A	90050	genome.wustl.edu	37	chr14	94394800	94394800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtattcccggctcccgCggggccttcctggcagagct	13	14	0	2	rs142299390	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:94394800C>T	ENST00000267594.5	+	3	662	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.R57W|FAM181A_ENST00000556222.1_Missense_Mutation_p.R57W|FAM181A_ENST00000557719.1_Missense_Mutation_p.R57W	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCGGCTCCCGCGGGGCCTTCC	0.652																																																	0								ENSG00000140067	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	26	28	27		169,169,169,169,355	0.9	0.9	14	dbSNP_134	27	8,8588	6.4+/-24.3	0,8,4290	yes	missense,missense,missense,missense,missense	FAM181A	NM_001207071.1,NM_001207072.1,NM_001207073.1,NM_001207074.1,NM_138344.4	101,101,101,101,101	0,8,6493	TT,TC,CC		0.0931,0.0,0.0615	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/293,57/293,57/293,57/293,119/355	94394800	8,12994	2203	4298	6501	FAM181A	SO:0001583	missense	0			-	HGNC	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.355C>T	14.37:g.94394800C>T	ENSP00000267594:p.Arg119Trp	Somatic	0	80	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	B2RD39|Q96GY1	Missense_Mutation	SNP							NULL	p.R119W	ENST00000267594.5	37	c.355	CCDS9914.1	14	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039266	0.55003	0.0	9.31E-4	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.74	0.923	0.19413	.	0.000000	0.56097	D	0.000030	T	0.52693	0.1750	L	0.53249	1.67	0.44825	D	0.997836	D	0.89917	1.0	D	0.97110	1.0	T	0.55829	-0.8079	10	0.66056	D	0.02	-17.3947	14.5855	0.68320	0.4901:0.5099:0.0:0.0	.	119	Q8N9Y4	F181A_HUMAN	W	57;119;57;57;108	ENSP00000451802:R57W;ENSP00000267594:R119W;ENSP00000451678:R57W;ENSP00000452393:R57W	ENSP00000267594:R119W	R	+	1	2	FAM181A	93464553	0.072000	0.21174	0.941000	0.38009	0.821000	0.46438	0.567000	0.23608	0.252000	0.21531	-0.314000	0.08810	CGG	-	NULL		0.652	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	protein_coding	OTTHUMT00000412840.1	C	NM_138344	rs142299390		94394800	1	no_errors	ENST00000267594	ensembl	human	known	74_37	missense	SNP	0.733	T	T	94394800	C	T	94394800	3	4	111	1	0	0	0	0	1	0	0	0	5510	759	27	1	361	1	FAM181A	14	94394800	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	72292513	94394800	12954740	83	7451											
DLK1	8788	genome.wustl.edu	37	chr14	101200664	101200664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggggcgacttccgctgcCggtgcccagccggcttcatc	14	15	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:101200664C>T	ENST00000341267.4	+	5	825	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	DLK1_ENST00000331224.6_Missense_Mutation_p.R195W	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	195	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTTCCGCTGCCGGTGCCCAGC	0.657																																																	0								ENSG00000185559						39	46	43					14																	101200664		2202	4299	6501	DLK1	SO:0001583	missense	0			-	HGNC	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.583C>T	14.37:g.101200664C>T	ENSP00000340292:p.Arg195Trp	Somatic	0	36	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	11	60.71	P15803|Q96DW5	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R195W	ENST00000341267.4	37	c.583	CCDS9963.1	14	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418360	0.62622	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.66638	-0.22;-0.22	4.58	3.66	0.41972	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.560748	0.17101	N	0.187016	T	0.70675	0.3251	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65940	-0.6046	10	0.37606	T	0.19	.	6.7375	0.23417	0.1789:0.7207:0.0:0.1004	.	195;195	P80370-2;P80370	.;DLK1_HUMAN	W	195	ENSP00000340292:R195W;ENSP00000331081:R195W	ENSP00000331081:R195W	R	+	1	2	DLK1	100270417	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.460000	0.45031	0.867000	0.35654	0.491000	0.48974	CGG	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.657	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	protein_coding	OTTHUMT00000414389.1	C		-		101200664	1	no_errors	ENST00000341267	ensembl	human	known	74_37	missense	SNP	0.986	T	T	101200664	C	T	101200664	3	4	111	1	0	0	0	0	1	0	0	0	4566	643	23	1	601	1	DLK1	14	101200664	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	6805864	101200664	6148876	84	7452											
ADSSL1	122622	genome.wustl.edu	37	chr14	105207463	105207463	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccttgcagggctttgctGagcggatcagacccatggtc	12	12	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr14:105207463G>T	ENST00000330877.2	+	8	761	c.676G>T	c.(676-678)Gag>Tag	p.E226*	ADSSL1_ENST00000332972.5_Nonsense_Mutation_p.E269*	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GGGCTTTGCTGAGCGGATCAG	0.612																																																	0								ENSG00000185100						82	78	79					14																	105207463		2203	4300	6503	ADSSL1	SO:0001587	stop_gained	0			-	HGNC	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.676G>T	14.37:g.105207463G>T	ENSP00000331260:p.Glu226*	Somatic	0	33	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Nonsense_Mutation	SNP							pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.E269*	ENST00000330877.2	37	c.805	CCDS9990.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.939912	0.97948	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.8547	18.57	0.91132	0.0:0.0:1.0:0.0	.	.	.	.	X	226;269	.	ENSP00000331260:E226X	E	+	1	0	ADSSL1	104278508	1.000000	0.71417	0.348000	0.25681	0.621000	0.37620	9.711000	0.98735	2.394000	0.81467	0.655000	0.94253	GAG	-	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase		0.612	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSSL1	protein_coding	OTTHUMT00000410529.1	G		-		105207463	1	no_errors	ENST00000332972	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	105207463	G	T	105207463	4	4	111	1	0	0	0	0	0	1	0	0	348	1291	45	3	1031	3	ADSSL1	14	105207463	Nonsense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	4006799	105207463	2142077	85	7453											
CYFIP1	23191	genome.wustl.edu	37	chr15	22929738	22929738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccattgagcgtttctgcGgggaagtgaggcgcctgtgc	16	9	1	2	rs541227757		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:22929738G>T	ENST00000313077.7	+	6	537	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	CYFIP1_ENST00000560848.1_Missense_Mutation_p.G138W	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCGTTTCTGCGGGGAAGTGAG	0.557																																																	0								ENSG00000068793						86	81	83					15																	22929738		2203	4300	6503	CYFIP1	SO:0001583	missense	0			-	HGNC	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.412G>T	15.37:g.22929738G>T	ENSP00000324549:p.Gly138Trp	Somatic	0	26	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00		Missense_Mutation	SNP							pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.G138W	ENST00000313077.7	37	c.412	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661680	0.88154	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.43294	0.95	4.92	4.92	0.64577	.	0.078178	0.53938	D	0.000046	T	0.51041	0.1651	L	0.40543	1.245	0.80722	D	1	D;P	0.61697	0.99;0.946	P;P	0.55303	0.773;0.592	T	0.54925	-0.8220	10	0.72032	D	0.01	-33.0363	18.4773	0.90798	0.0:0.0:1.0:0.0	.	166;138	E7EQ04;Q7L576	.;CYFP1_HUMAN	W	138;166	ENSP00000324549:G138W	ENSP00000324549:G138W	G	+	1	0	CYFIP1	20481179	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.770000	0.85390	2.439000	0.82584	0.561000	0.74099	GGG	-	pirsf_Cytoplasmic_FMR1-int_sub		0.557	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	protein_coding	OTTHUMT00000251136.2	G	NM_014608	-		22929738	1	no_errors	ENST00000313077	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22929738	G	T	22929738	3	4	111	1	0	0	0	0	1	0	0	0	4139	1116	39	3	430	3	CYFIP1	15	22929738	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		22929738	79601654	86	7454											
C15orf2	23742	genome.wustl.edu	37	chr15	24921079	24921079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgccagggccagggcGtggcgcccccgctcccctgt	14	20	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:24921079G>A	ENST00000329468.2	+	1	539	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	22					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGGCCAGGGCGTGGCGCCCCC	0.687																																																	0								ENSG00000185823						6	8	7					15																	24921079		1799	3770	5569	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.65G>A	15.37:g.24921079G>A	ENSP00000333735:p.Arg22His	Somatic	0	44	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86		Missense_Mutation	SNP							NULL	p.R22H	ENST00000329468.2	37	c.65	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265171	0.40095	.	.	ENSG00000185823	ENST00000329468	T	0.07021	3.23	2.06	-4.12	0.03916	.	.	.	.	.	T	0.04272	0.0118	L	0.29908	0.895	0.09310	N	1	D	0.56968	0.978	B	0.38803	0.282	T	0.16276	-1.0408	9	0.44086	T	0.13	.	2.6744	0.05077	0.4026:0.0:0.2436:0.3538	.	22	Q9NZP6	CO002_HUMAN	H	22	ENSP00000333735:R22H	ENSP00000333735:R22H	R	+	2	0	C15orf2	22472172	0.054000	0.20591	0.000000	0.03702	0.012000	0.07955	0.412000	0.21131	-1.420000	0.02009	-0.516000	0.04426	CGT	-	NULL		0.687	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	G	NM_018958	-		24921079	1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	A	A	24921079	G	A	24921079	3	1	111	1	0	0	0	0	1	0	0	0	1786	1145	40	1	67	1	C15orf2	15	24921079	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	1991341	24921079	77610313	87	7455											
C15orf2	23742	genome.wustl.edu	37	chr15	24921350	24921350	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggtttggacaccccagTtccgtaaggatccctcctcc	9	16	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:24921350T>A	ENST00000329468.2	+	1	810	c.336T>A	c.(334-336)agT>agA	p.S112R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	112					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GACACCCCAGTTCCGTAAGGA	0.667																																																	0								ENSG00000185823						52	43	46					15																	24921350		2200	4292	6492	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.336T>A	15.37:g.24921350T>A	ENSP00000333735:p.Ser112Arg	Somatic	0	52	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20		Missense_Mutation	SNP							NULL	p.S112R	ENST00000329468.2	37	c.336	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.137259	0.00335	.	.	ENSG00000185823	ENST00000329468	T	0.05649	3.41	2.45	-4.91	0.03085	.	1.562850	0.04018	N	0.299356	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.38802	-0.9644	10	0.15952	T	0.53	.	0.8629	0.01197	0.1495:0.2599:0.2138:0.3767	.	112	Q9NZP6	CO002_HUMAN	R	112	ENSP00000333735:S112R	ENSP00000333735:S112R	S	+	3	2	C15orf2	22472443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.391000	0.01057	-3.280000	0.00197	-1.543000	0.00907	AGT	-	NULL		0.667	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	T	NM_018958	-		24921350	1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	A	A	24921350	T	A	24921350	3	1	111	1	0	0	0	0	1	0	0	0	1786	1722	60	5	338	5	C15orf2	15	24921350	Missense_Mutation	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	271	24921350	77610042	88	7456											
TRPM1	4308	genome.wustl.edu	37	chr15	31359349	31359349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccggcctctggacttggAggagtggtctttcaaggcat	13	10	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:31359349A>G	ENST00000256552.6	-	6	682	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S157P|TRPM1_ENST00000542188.1_Missense_Mutation_p.S196P	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGGACTTGGAGGAGTGGTCT	0.488																																																	0								ENSG00000134160						117	116	116					15																	31359349		1906	4116	6022	TRPM1	SO:0001583	missense	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.535T>C	15.37:g.31359349A>G	ENSP00000256552:p.Ser179Pro	Somatic	0	76	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59		Missense_Mutation	SNP							pfam_Ion_trans_dom	p.S196P	ENST00000256552.6	37	c.586	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	A	29.6	5.020318	0.93462	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.05717	3.4;3.4;3.4	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.89095	3.005	0.80722	D	1	D;D	0.69078	0.991;0.997	D;D	0.75484	0.986;0.92	T	0.16012	-1.0417	10	0.87932	D	0	-29.0164	16.7021	0.85357	1.0:0.0:0.0:0.0	.	157;157	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	P	157;196;179;157	ENSP00000380897:S157P;ENSP00000437849:S196P;ENSP00000256552:S179P	ENSP00000256552:S179P	S	-	1	0	TRPM1	29146641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.343000	0.79666	0.533000	0.62120	TCC	-	NULL		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	A	NM_002420	-		31359349	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	SNP	1.000	G	G	31359349	A	G	31359349	3	3	111	1	0	0	0	0	1	0	0	0	16592	304	11	5	4434	5	TRPM1	15	31359349	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	6437999	31359349	71172043	89	7457											
FSIP1	161835	genome.wustl.edu	37	chr15	39910030	39910030	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcatctaagaaggaGggccttttcagtctcccaat	10	9	4	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:39910030G>T	ENST00000350221.3	-	11	1814	c.1605C>A	c.(1603-1605)ccC>ccA	p.P535P		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	535										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CTAAGAAGGAGGGCCTTTTCA	0.403																																																	0								ENSG00000150667						110	103	105					15																	39910030		2200	4297	6497	FSIP1	SO:0001819	synonymous_variant	0			-	HGNC	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1605C>A	15.37:g.39910030G>T		Somatic	0	67	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q6X2C8|Q86Y89	Silent	SNP							NULL	p.P535	ENST00000350221.3	37	c.1605	CCDS10050.1	15																																																																																			-	NULL		0.403	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	protein_coding	OTTHUMT00000252118.2	G	NM_152597	-		39910030	-1	no_errors	ENST00000350221	ensembl	human	known	74_37	silent	SNP	0.994	T	T	39910030	G	T	39910030	2	4	111	1	0	0	0	0	0	0	0	1	6076	987	35	3		3	FSIP1	15	39910030	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	8550681	39910030	62621362	90	7458											
TLE3	7090	genome.wustl.edu	37	chr15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggcgtgcctcgggatgCcggggcctgccagggcgtcg	20	14	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	472					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637																																																	0								ENSG00000140332						55	63	60					15																	70347560		2199	4298	6497	TLE3	SO:0001583	missense	0			-	HGNC	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1415G>A	15.37:g.70347560C>T	ENSP00000452871:p.Gly472Asp	Somatic	0	33	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP							pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G472D	ENST00000558939.1	37	c.1415	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567493	0.86439	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.54	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.365640	0.30193	N	0.010187	T	0.35189	0.0923	M	0.88241	2.94	0.80722	D	1	P;D;D;D;D;D;D;D	0.67145	0.904;0.969;0.996;0.969;0.992;0.969;0.985;0.982	P;P;P;P;D;P;D;P	0.67548	0.644;0.788;0.897;0.724;0.952;0.657;0.921;0.815	T	0.31081	-0.9956	10	0.59425	D	0.04	-11.2741	11.6082	0.51045	0.0:0.9116:0.0:0.0884	.	462;469;464;467;460;472;472;399	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	D	464;469;472;462;399;139	ENSP00000390007:G464D;ENSP00000394717:G469D;ENSP00000415057:G462D;ENSP00000442594:G399D	ENSP00000319233:G472D	G	-	2	0	TLE3	68134614	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.747000	0.62141	1.137000	0.42214	0.462000	0.41574	GGC	-	superfamily_WD40_repeat_dom		0.637	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	protein_coding	OTTHUMT00000416913.1	C	NM_005078	-		70347560	-1	no_errors	ENST00000558939	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70347560	C	T	70347560	3	4	111	1	0	0	0	0	1	0	0	0	15947	739	26	2	927	2	TLE3	15	70347560	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	30437530	70347560	32183832	91	7459											
ERN2	10595	genome.wustl.edu	37	chr16	23722303	23722303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacttccatccaaggtggAcaccagcaggaggttctctg	12	11	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:23722303A>G	ENST00000457008.2	-	2	168	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P	CTD-2385L22.1_ENST00000563611.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.S92P					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCAAGGTGGACACCAGCAGG	0.577																																																	0								ENSG00000134398						126	113	117					16																	23722303		2197	4300	6497	ERN2	SO:0001583	missense	0			-	HGNC	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.130T>C	16.37:g.23722303A>G	ENSP00000413812:p.Ser44Pro	Somatic	0	14	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00		Missense_Mutation	SNP							pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.S92P	ENST00000457008.2	37	c.274		16	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033227	0.75504	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.58060	0.36;0.36	5.61	3.28	0.37604	.	0.166985	0.53938	D	0.000042	T	0.68924	0.3054	M	0.88310	2.945	0.51767	D	0.99993	D;P	0.57899	0.981;0.947	P;P	0.55161	0.77;0.607	T	0.72577	-0.4251	10	0.87932	D	0	.	10.9468	0.47306	0.701:0.299:0.0:0.0	.	44;44	E7ETG2;A5YM65	.;.	P	92;44	ENSP00000256797:S92P;ENSP00000413812:S44P	ENSP00000256797:S92P	S	-	1	0	ERN2	23629804	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.892000	0.69790	0.372000	0.24591	0.460000	0.39030	TCC	-	superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat		0.577	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	protein_coding	OTTHUMT00000434886.1	A		-		23722303	-1	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	SNP	1.000	G	G	23722303	A	G	23722303	3	3	111	1	0	0	0	0	1	0	0	0	5240	275	10	5	2734	5	ERN2	16	23722303	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09		23722303	66632450	92	7460											
SULT1A1	6817	genome.wustl.edu	37	chr16	28618098	28618098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctccttcatgtcttcaTagaagaggtagagaacaggg	10	9	4	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:28618098T>C	ENST00000395607.1	-	6	851	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	SULT1A1_ENST00000314752.7_Missense_Mutation_p.Y193C|SULT1A1_ENST00000350842.4_Missense_Mutation_p.Y115C|SULT1A1_ENST00000569554.1_Missense_Mutation_p.Y193C|SULT1A1_ENST00000395609.1_Missense_Mutation_p.Y193C	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	193					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CATGTCTTCATAGAAGAGGTA	0.622																																																	0								ENSG00000196502						136	98	111					16																	28618098		2197	4300	6497	SULT1A1	SO:0001583	missense	0			-	HGNC	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.578A>G	16.37:g.28618098T>C	ENSP00000378971:p.Tyr193Cys	Somatic	0	36	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	21	55.32	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Y193C	ENST00000395607.1	37	c.578	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	t	13.35	2.211481	0.39102	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	2.42	2.42	0.29668	Sulfotransferase domain (1);	0.179687	0.38959	N	0.001517	T	0.35393	0.0930	H	0.96239	3.79	0.40572	D	0.981312	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.36286	-0.9754	10	0.87932	D	0	.	6.8097	0.23796	0.0:0.0:0.0:1.0	.	145;115;193	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	C	193;115;193;193	ENSP00000321988:Y193C;ENSP00000329399:Y115C;ENSP00000378972:Y193C;ENSP00000378971:Y193C	ENSP00000321988:Y193C	Y	-	2	0	SULT1A1	28525599	0.957000	0.32711	1.000000	0.80357	0.831000	0.47069	1.563000	0.36364	1.374000	0.46228	0.254000	0.18369	TAT	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.622	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	protein_coding	OTTHUMT00000254694.2	T	NM_001055	-		28618098	-1	no_errors	ENST00000314752	ensembl	human	known	74_37	missense	SNP	0.999	C	C	28618098	T	C	28618098	3	2	111	1	0	0	0	0	1	0	0	0	15379	1406	49	5	321	5	SULT1A1	16	28618098	Missense_Mutation	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	4895795	28618098	61736655	93	7461											
PRSS53	339105	genome.wustl.edu	37	chr16	31098211	31098211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggaattcagttctgttGctgctgccctggaaggggaa	13	9	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:31098211G>A	ENST00000280606.6	-	4	404	c.251C>T	c.(250-252)gCa>gTa	p.A84V	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.A159V	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	84	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CAGTTCTGTTGCTGCTGCCCT	0.612																																																	0								ENSG00000151006						35	37	36					16																	31098211		2087	4231	6318	PRSS53	SO:0001583	missense	0			-	HGNC		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.251C>T	16.37:g.31098211G>A	ENSP00000280606:p.Ala84Val	Somatic	0	37	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00		Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A84V	ENST00000280606.6	37	c.251	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	G	7.656	0.684001	0.14907	.	.	ENSG00000151006;ENSG00000255439	ENST00000280606;ENST00000529564	T;D	0.92595	-1.48;-3.07	5.75	-0.775	0.10988	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.178000	0.06878	U	0.801993	T	0.78978	0.4369	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64765	-0.6330	10	0.16896	T	0.51	.	4.4063	0.11411	0.3407:0.0:0.4042:0.2551	.	84	Q2L4Q9	PRS53_HUMAN	V	84;159	ENSP00000280606:A84V;ENSP00000431371:A159V	ENSP00000280606:A84V	A	-	2	0	RP11-196G11.1;PRSS53	31005712	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.005000	0.13129	-0.227000	0.09884	-0.808000	0.03180	GCA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.612	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	protein_coding	OTTHUMT00000108580.4	G	NM_001081268	-		31098211	-1	no_errors	ENST00000280606	ensembl	human	known	74_37	missense	SNP	0.000	A	A	31098211	G	A	31098211	3	1	111	1	0	0	0	0	1	0	0	0	12637	1319	46	2	1442	2	PRSS53	16	31098211	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	2480113	31098211	59256542	94	7462											
ARMC5	79798	genome.wustl.edu	37	chr16	31476247	31476247	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtctccttgcccccatgtGagtccccatcctcccccatg	6	21	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:31476247G>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000457010.2_Nonsense_Mutation_p.E635*			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCCCATGTGAGTCCCCATC	0.657																																																	0								ENSG00000140691						34	39	37					16																	31476247		2044	4189	6233	ARMC5	SO:0001627	intron_variant	0			-	HGNC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+39G>T	16.37:g.31476247G>T		Somatic	0	42	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q86WM9|Q9H7P8|Q9H925	Nonsense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E635*	ENST00000563544.1	37	c.1903	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.284129	0.98742	.	.	ENSG00000140691	ENST00000457010	.	.	.	3.34	-3.37	0.04898	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.064	0.36451	0.7444:0.0:0.2556:0.0	.	.	.	.	X	635	.	.	E	+	1	0	ARMC5	31383748	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.941000	0.03925	-0.751000	0.04734	-0.436000	0.05848	GAG	-	NULL		0.657	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	protein_coding	OTTHUMT00000432847.1	G	NM_024742	-		31476247	1	no_errors	ENST00000457010	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	31476247	G	T	31476247	1	4	111	0	1	0	0	0	0	0	0	0	954	1291	45	3		3	ARMC5	16	31476247	Intron	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	378036	31476247	58878506	95	7463											
ABCC12	94160	genome.wustl.edu	37	chr16	48145504	48145504	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctaaccgattataccagcatCttcctctctctcagcagggc	6	15	3	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:48145504C>A	ENST00000311303.3	-	15	2539	c.2194G>T	c.(2194-2196)Gat>Tat	p.D732Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.D732Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	732						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATACCAGCATCTTCCTCTCTC	0.453																																																	0								ENSG00000140798						308	321	316					16																	48145504		2201	4300	6501	ABCC12	SO:0001583	missense	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2194G>T	16.37:g.48145504C>A	ENSP00000311030:p.Asp732Tyr	Somatic	0	62	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D732Y	ENST00000311303.3	37	c.2194	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339576	0.24339	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;T	0.91894	-2.93;0.97	5.2	4.15	0.48705	.	1.099420	0.06815	N	0.791046	D	0.87939	0.6304	L	0.38838	1.175	0.22081	N	0.999379	B	0.27823	0.19	B	0.29716	0.106	T	0.78064	-0.2350	10	0.62326	D	0.03	.	5.7932	0.18371	0.0:0.8304:0.0:0.1696	.	732	Q96J65	MRP9_HUMAN	Y	732;732;674	ENSP00000311030:D732Y;ENSP00000401855:D732Y	ENSP00000311030:D732Y	D	-	1	0	ABCC12	46703005	0.721000	0.28007	0.008000	0.14137	0.011000	0.07611	2.666000	0.46799	2.427000	0.82271	0.491000	0.48974	GAT	-	NULL		0.453	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48145504	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	SNP	0.013	A	A	48145504	C	A	48145504	3	1	111	1	0	0	0	0	1	0	0	0	52	913	32	3	1945	3	ABCC12	16	48145504	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	16669257	48145504	42209249	96	7464											
MT2A	4502	genome.wustl.edu	37	chr16	56643194	56643194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctcctgctgcccTgtgggctgtgccaagtgtgc	15	13	0	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:56643194T>C	ENST00000245185.5	+	3	571	c.114T>C	c.(112-114)ccT>ccC	p.P38P	MT2A_ENST00000561491.1_3'UTR|MT2A_ENST00000563985.1_3'UTR|RP11-249C24.10_ENST00000569778.1_lincRNA	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	38	Alpha.				cellular copper ion homeostasis (GO:0006878)|cellular response to drug (GO:0035690)|cellular response to erythropoietin (GO:0036018)|cellular response to interleukin-3 (GO:0036016)|cellular response to zinc ion (GO:0071294)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	drug binding (GO:0008144)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCTGCTGCCCTGTGGGCTGTG	0.622																																																	0								ENSG00000125148						54	54	54					16																	56643194		2198	4300	6498	MT2A	SO:0001819	synonymous_variant	0			-	HGNC	BC007034	CCDS10763.1	16q13	2012-10-02			ENSG00000125148	ENSG00000125148		"Metallothioneins"	7406	protein-coding gene	gene with protein product		156360		MT2		7133118	Standard	NM_005953		Approved		uc002ejh.3	P02795	OTTHUMG00000133281	ENST00000245185.5:c.114T>C	16.37:g.56643194T>C		Somatic	0	30	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	27.27	Q14823|Q2HXR9|Q53XT9	Silent	SNP							pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.P38	ENST00000245185.5	37	c.114	CCDS10763.1	16																																																																																			-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert		0.622	MT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT2A	protein_coding	OTTHUMT00000257061.1	T	NM_005953	-		56643194	1	no_errors	ENST00000245185	ensembl	human	known	74_37	silent	SNP	0.574	C	C	56643194	T	C	56643194	2	2	111	1	0	0	0	0	0	0	0	1	9907	1567	55	5		5	MT2A	16	56643194	Silent	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	8497690	56643194	33711559	97	7465											
SMPD3	55512	genome.wustl.edu	37	chr16	68398795	68398795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtccagctgcccacaccGgatggcgctgtcctctgcag	12	16	1	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr16:68398795G>A	ENST00000219334.5	-	5	2017	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	SMPD3_ENST00000563226.1_Missense_Mutation_p.R472W|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.R472W	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	472					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCCCACACCGGATGGCGCTG	0.592																																																	0								ENSG00000103056						43	37	39					16																	68398795		2198	4300	6498	SMPD3	SO:0001583	missense	0			-	HGNC	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1414C>T	16.37:g.68398795G>A	ENSP00000219334:p.Arg472Trp	Somatic	0	73	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	B7ZL82|Q2M1S8	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R472W	ENST00000219334.5	37	c.1414	CCDS10867.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.634416	0.96682	.	.	ENSG00000103056	ENST00000219334	T	0.61627	0.09	5.93	5.93	0.95920	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.81022	-0.1121	10	0.87932	D	0	-27.0556	17.8376	0.88704	0.0:0.0:1.0:0.0	.	472;472;472	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	W	472	ENSP00000219334:R472W	ENSP00000219334:R472W	R	-	1	2	SMPD3	66956296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.815000	0.96918	0.561000	0.74099	CGG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.592	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	protein_coding	OTTHUMT00000268895.3	G	NM_018667	-		68398795	-1	no_errors	ENST00000219334	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68398795	G	A	68398795	3	1	111	1	0	0	0	0	1	0	0	0	14814	1115	39	1	573	1	SMPD3	16	68398795	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	11755601	68398795	21955958	98	7466											
TP53	7157	genome.wustl.edu	37	chr17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctccgtcatgtgctGtgactgcttgtagatggcca	10	12	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:7578431G>A	ENST00000269305.4	-	5	688	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q167*	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	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (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.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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)	GTCATGTGCTGTGACTGCTTG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	53	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Substitution - Missense(2)|Complex - compound substitution(1)	upper_aerodigestive_tract(9)|lung(8)|oesophagus(8)|large_intestine(7)|breast(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	GRCh37	CM942118	TP53	M		ENSG00000141510						54	54	54					17																	7578431		2203	4300	6503	TP53	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;	-	HGNC	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.499C>T	17.37:g.7578431G>A	ENSP00000269305:p.Gln167*	Somatic	0	31	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	1	90.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q167*	ENST00000269305.4	37	c.499	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772268	0.49680	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.276	12.4331	0.55584	0.0:0.6985:0.3015:0.0	.	.	.	.	X	167;167;167;167;167;167;156;74;35;74;35	.	ENSP00000269305:Q167X	Q	-	1	0	TP53	7519156	1.000000	0.71417	0.013000	0.15412	0.114000	0.19823	5.156000	0.64905	1.520000	0.48965	0.655000	0.94253	CAG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7578431	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	7578431	G	A	7578431	4	1	111	1	0	0	0	0	0	1	0	0	16388	1386	48	2	799	2	TP53	17	7578431	Nonsense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		7578431	73616779	99	7467											
WDR16	146845	genome.wustl.edu	37	chr17	9541928	9541928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaatctactttccaggcGtctcaggaggaatcagatga	10	8	3	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:9541928G>A	ENST00000352665.5	+	12	1544	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.R502H|WDR16_ENST00000396219.3_Missense_Mutation_p.R424H|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTCCAGGCGTCTCAGGAGG	0.453																																																	0								ENSG00000166596						97	87	91					17																	9541928		2203	4300	6503	WDR16	SO:0001583	missense	0			-	HGNC	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1475G>A	17.37:g.9541928G>A	ENSP00000339449:p.Arg492His	Somatic	0	54	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45		Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R502H	ENST00000352665.5	37	c.1505	CCDS11149.2	17	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878944	0.72294	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.42131	0.98;2.77;2.18	5.24	-0.149	0.13420	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046189	0.85682	N	0.000000	T	0.58623	0.2135	M	0.78916	2.43	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.981;0.965;0.948	T	0.57329	-0.7830	10	0.56958	D	0.05	-4.0543	9.5309	0.39193	0.36:0.0:0.64:0.0	.	502;424;492	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	H	492;424;502	ENSP00000339449:R492H;ENSP00000379521:R424H;ENSP00000299764:R502H	ENSP00000299764:R502H	R	+	2	0	WDR16	9482653	0.999000	0.42202	0.968000	0.41197	0.873000	0.50193	2.565000	0.45939	-0.136000	0.11475	-0.123000	0.14984	CGT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	protein_coding	OTTHUMT00000316569.2	G	NM_145054	-		9541928	1	no_errors	ENST00000299764	ensembl	human	known	74_37	missense	SNP	0.999	A	A	9541928	G	A	9541928	3	1	111	1	0	0	0	0	1	0	0	0	17283	1145	40	1	1521	1	WDR16	17	9541928	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	1963497	9541928	71653282	100	7468											
MYH13	8735	genome.wustl.edu	37	chr17	10225010	10225010	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcaagtgctgtcatttcttCggaaagattctttacctggg	9	8	4	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:10225010C>A	ENST00000418404.3	-	23	3113	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E984*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	984					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E984*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCATTTCTTCGGAAAGATTC	0.383																																																	2	Substitution - Nonsense(2)	kidney(2)						ENSG00000006788						124	107	112					17																	10225010		1825	4085	5910	MYH13	SO:0001587	stop_gained	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2950G>T	17.37:g.10225010C>A	ENSP00000404570:p.Glu984*	Somatic	0	72	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O95252|Q9P0U8	Nonsense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E984*	ENST00000418404.3	37	c.2950	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	44	10.619036	0.99438	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.0067	0.86395	0.0:1.0:0.0:0.0	.	.	.	.	X	984;610	.	ENSP00000252172:E984X	E	-	1	0	MYH13	10165735	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.480000	0.81109	2.309000	0.77851	0.561000	0.74099	GAA	-	NULL		0.383	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	C	NM_003802	-		10225010	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	10225010	C	A	10225010	4	1	111	1	0	0	0	0	0	1	0	0	10034	893	31	3	2938	3	MYH13	17	10225010	Nonsense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	683082	10225010	70970200	101	7469											
ACACA	31	genome.wustl.edu	37	chr17	35615186	35615186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caataacatggccccttggaCaaggaacgtgtgcagaatct	10	10	1	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:35615186C>A	ENST00000394406.2	-	13	1689	c.1499G>T	c.(1498-1500)tGt>tTt	p.C500F	ACACA_ENST00000353139.5_Missense_Mutation_p.C537F|ACACA_ENST00000335166.5_Missense_Mutation_p.C422F|ACACA_ENST00000360679.3_Missense_Mutation_p.C442F	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	500	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCCCTTGGACAAGGAACGTG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0								ENSG00000132142						90	86	88					17																	35615186		2203	4300	6503	ACACA	SO:0001583	missense	0			-	HGNC	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1499G>T	17.37:g.35615186C>A	ENSP00000377928:p.Cys500Phe	Somatic	0	112	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	10	84.62	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP							pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.C537F	ENST00000394406.2	37	c.1610	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731160	0.48939	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.93	5.93	0.95920	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.139271	0.64402	D	0.000003	D	0.90157	0.6924	N	0.14661	0.345	0.58432	D	0.999992	B;B;B	0.19331	0.016;0.021;0.035	B;B;B	0.25614	0.062;0.004;0.013	D	0.84934	0.0861	10	0.42905	T	0.14	-9.0713	19.3421	0.94347	0.0:1.0:0.0:0.0	.	537;500;442	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	F	537;442;500;524;422	ENSP00000344789:C537F;ENSP00000353898:C442F;ENSP00000377928:C500F;ENSP00000335323:C422F	ENSP00000335323:C422F	C	-	2	0	ACACA	32689299	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.366000	0.44204	2.826000	0.97356	0.655000	0.94253	TGT	-	pfscan_Biotin_carboxylation_dom		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	protein_coding	OTTHUMT00000256696.1	C	NM_198836	-		35615186	-1	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35615186	C	A	35615186	3	1	111	1	0	0	0	0	1	0	0	0	106	478	17	3	5717	3	ACACA	17	35615186	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	25390176	35615186	45580024	102	7470											
STARD3	10948	genome.wustl.edu	37	chr17	37818563	37818563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtaacccccgtgtttGcacctttgtctggattctta	9	12	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:37818563G>T	ENST00000336308.5	+	14	1417	c.1199G>T	c.(1198-1200)tGc>tTc	p.C400F	STARD3_ENST00000580611.1_Missense_Mutation_p.C374F|STARD3_ENST00000544210.2_Missense_Mutation_p.C400F|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000394250.4_Missense_Mutation_p.C382F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	400	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCCGTGTTTGCACCTTTGTC	0.567																																																	0								ENSG00000131748						53	54	53					17																	37818563		2203	4300	6503	STARD3	SO:0001583	missense	0			-	HGNC		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1199G>T	17.37:g.37818563G>T	ENSP00000337446:p.Cys400Phe	Somatic	0	60	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP							pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR	p.C400F	ENST00000336308.5	37	c.1199	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757453	0.89843	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	D;D;D	0.82526	-1.62;-1.62;-1.62	5.78	5.78	0.91487	Lipid-binding START (3);START-like domain (1);	0.095524	0.85682	D	0.000000	D	0.91399	0.7286	M	0.76574	2.34	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	0.91635	0.997;0.996;0.999;0.996;0.999	D	0.91616	0.5307	10	0.87932	D	0	.	19.695	0.96022	0.0:0.0:1.0:0.0	.	400;165;400;382;400	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	F	400;400;382	ENSP00000337446:C400F;ENSP00000439869:C400F;ENSP00000377794:C382F	ENSP00000337446:C400F	C	+	2	0	STARD3	35072089	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.075000	0.94004	2.750000	0.94351	0.549000	0.68633	TGC	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.567	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	protein_coding	OTTHUMT00000256933.1	G		-		37818563	1	no_errors	ENST00000336308	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37818563	G	T	37818563	3	4	111	1	0	0	0	0	1	0	0	0	15264	1319	46	3	1262	3	STARD3	17	37818563	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	2203377	37818563	43376647	103	7471											
KRTAP4-5	85289	genome.wustl.edu	37	chr17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC													ggtcctgcagcaggtggtctINSggcagcagcaggggcggcag					rs535144703|rs141265645|rs58117746|rs146438235	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)cag>cGCCCCAGCTGCTGCCag	p.81_82insRPSCC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653														2119	0.423123	0.5401	0.4236	5008	,	,		17097	0.3065		0.3897	False		,,,				2504	0.4192																0								ENSG00000198271																																			KRTAP4-5	SO:0001652	inframe_insertion	0				HGNC	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"Keratin associated proteins"	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.244_245insGCCCCAGCTGCTGCC	17.37:g.39305775_39305776insGGCAGCAGCTGGGGC	ENSP00000340546:p.Cys81_Gln82insArgProSerCysCys	Somatic					0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1					In_Frame_Ins	INS							NULL	p.82in_frame_insRPSCC	ENST00000343246.4	37	c.245_244	CCDS32650.1	17																																																																																			-	NULL		0.653	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-5	protein_coding	OTTHUMT00000257783.1	-				39305776	-1	no_errors	ENST00000343246	ensembl	human	known	74_37	in_frame_ins	INS	0.148:0.743	GGCAGCAGCTGGGGC	GGCAGCAGCTGGGGC	39305776	-	GGCAGCAGCTGGGGC	39305775	7	5	111	1	0	1	1	0	0	0	0	0	8556	1580	55	0	304	0	KRTAP4-5	17	39305775	In_Frame_Ins	INS	-	TCGA-DX-AATS-01A-12D-A417-09	1487212	39305775	41889435	104	7472											
GNAL	2774	genome.wustl.edu	37	chr18	11689669	11689670	+	In_Frame_Ins	INS	-	-	GGCCCT													gcgcagcccgccccggccccINSggccctggccccagtccggg					rs577163323|rs531745431|rs7236061|rs201898548	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr18:11689669_11689670insGGCCCT	ENST00000334049.6	+	1	715_716	c.107_108insGGCCCT	c.(106-111)ccggcc>ccGGCCCTggcc	p.39_40insLA		NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	33					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						gccccggccccggccctggccc	0.777																																																	0								ENSG00000141404																																			GNAL	SO:0001652	inframe_insertion	0				HGNC	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000334049.6:c.108_113dupGGCCCT	18.37:g.11689670_11689675dupGGCCCT	ENSP00000334051:p.Leu38_Ala39dup	Somatic					0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7ZA26|Q86XU3	In_Frame_Ins	INS							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.40in_frame_insLA	ENST00000334049.6	37	c.107_108	CCDS11851.1	18																																																																																			-	NULL		0.777	GNAL-001	KNOWN	basic|CCDS	protein_coding	GNAL	protein_coding	OTTHUMT00000254560.2	-	NM_182978, NM_002071			11689670	1	no_errors	ENST00000334049	ensembl	human	known	74_37	in_frame_ins	INS	0.981:0.814	GGCCCT	GGCCCT	11689670	-	GGCCCT	11689669	7	5	111	1	0	1	1	0	0	0	0	0	6509	652	23	0	109	0	GNAL	18	11689669	In_Frame_Ins	INS	-	TCGA-DX-AATS-01A-12D-A417-09		11689669	66387579	105	7473											
PRR22	163154	genome.wustl.edu	37	chr19	5783472	5783472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgcctgctcccagcagGgccccctccttgacctcggc	10	20	0	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:5783472G>A	ENST00000419421.2	-	3	890	c.786C>T	c.(784-786)gcC>gcT	p.A262A		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	262										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CTCCCAGCAGGGCCCCCTCCT	0.677																																																	0								ENSG00000212123						12	15	14					19																	5783472		2190	4281	6471	PRR22	SO:0001819	synonymous_variant	0			-	HGNC	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.786C>T	19.37:g.5783472G>A		Somatic	0	25	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	E9PB31	Silent	SNP							NULL	p.A262	ENST00000419421.2	37	c.786	CCDS45933.1	19																																																																																			-	NULL		0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	protein_coding	OTTHUMT00000368523.1	G	NM_153359	-		5783472	-1	no_errors	ENST00000419421	ensembl	human	known	74_37	silent	SNP	0.000	A	A	5783472	G	A	5783472	2	1	111	1	0	0	0	0	0	0	0	1	12598	1219	43	2		2	PRR22	19	5783472	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		5783472	53345511	106	7474											
MUC16	94025	genome.wustl.edu	37	chr19	9033260	9033260	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctagtctgcagcctgaataGaggtattccagactgctatt	10	9	1	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:9033260G>A	ENST00000397910.4	-	10	36569	c.36366C>T	c.(36364-36366)ctC>ctT	p.L12122L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12124	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGCCTGAATAGAGGTATTCCA	0.527																																																	0								ENSG00000181143						66	65	66					19																	9033260		1980	4154	6134	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.36366C>T	19.37:g.9033260G>A		Somatic	0	27	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12122	ENST00000397910.4	37	c.36366	CCDS54212.1	19																																																																																			-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9033260	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.002	A	A	9033260	G	A	9033260	2	1	111	1	0	0	0	0	0	0	0	1	9975	929	33	2		2	MUC16	19	9033260	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	3249788	9033260	50095723	107	7475			1	65		2	2	12	G		4.512652e-05
MUC16	94025	genome.wustl.edu	37	chr19	9033271	9033271	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctgaatagaggtattccaGactgctattcctgaacaagg	10	9	0	4			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:9033271G>A	ENST00000397910.4	-	10	36558	c.36355C>T	c.(36355-36357)Ctg>Ttg	p.L12119L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12121	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGGTATTCCAGACTGCTATTC	0.532																																																	0								ENSG00000181143						63	62	62					19																	9033271		1997	4156	6153	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.36355C>T	19.37:g.9033271G>A		Somatic	0	26	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12119	ENST00000397910.4	37	c.36355	CCDS54212.1	19																																																																																			-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9033271	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	A	A	9033271	G	A	9033271	2	1	111	1	0	0	0	0	0	0	0	1	9975	933	33	2		2	MUC16	19	9033271	Silent	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	11	9033271	50095712	108	7476			1	65		2	2	12	G		4.512652e-05
MUC16	94025	genome.wustl.edu	37	chr19	9062319	9062319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattggagatgtggctttgGgtgtctctgagtcagatagg	15	6	2	3	rs200990639		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:9062319G>T	ENST00000397910.4	-	3	25330	c.25127C>A	c.(25126-25128)cCc>cAc	p.P8376H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8378	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						TGTGGCTTTGGGTGTCTCTGA	0.478																																																	0								ENSG00000181143						177	172	174					19																	9062319		2072	4203	6275	MUC16	SO:0001583	missense	0			-	HGNC	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.25127C>A	19.37:g.9062319G>T	ENSP00000381008:p.Pro8376His	Somatic	0	44	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P8376H	ENST00000397910.4	37	c.25127	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.011	-0.000628	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.71	0.404	0.16355	.	.	.	.	.	T	0.15478	0.0373	L	0.34521	1.04	.	.	.	B	0.28850	0.225	B	0.23419	0.046	T	0.22452	-1.0216	8	0.87932	D	0	.	2.9541	0.05870	0.1625:0.0:0.5712:0.2663	.	8376	B5ME49	.	H	8376	ENSP00000381008:P8376H	ENSP00000381008:P8376H	P	-	2	0	MUC16	8923319	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.040000	0.13905	0.173000	0.19788	0.400000	0.26472	CCC	-	NULL		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9062319	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9062319	G	T	9062319	3	4	111	1	0	0	0	0	1	0	0	0	9975	1232	43	3	18724	3	MUC16	19	9062319	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	29048	9062319	50066664	109	7477											
NCAN	1463	genome.wustl.edu	37	chr19	19338426	19338426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggtgaggccaccgccaCggctccaccctcccctgctg	10	19	0	1	rs111534277	byFrequency	TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:19338426C>T	ENST00000252575.6	+	8	2096	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	NCAN_ENST00000538881.1_Missense_Mutation_p.T117M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	666					axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCACCGCCACGGCTCCACCC	0.612													C|||	3	0.000599042	0.0023	0	5008	,	,		17435	0		0	False		,,,				2504	0																0								ENSG00000130287	C	MET/THR	6,4400	11.4+/-27.6	0,6,2197	93	96	95		1997	4.4	0	19	dbSNP_132	95	0,8600		0,0,4300	yes	missense	NCAN	NM_004386.2	81	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	666/1322	19338426	6,13000	2203	4300	6503	NCAN	SO:0001583	missense	0			-	HGNC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1997C>T	19.37:g.19338426C>T	ENSP00000252575:p.Thr666Met	Somatic	0	58	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	53	10.17	Q9UPK6	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.T666M	ENST00000252575.6	37	c.1997	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380303	0.24944	0.001362	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85339	-1.79;-1.97	4.4	4.4	0.53042	.	0.623617	0.13362	N	0.393600	D	0.82296	0.5006	L	0.27053	0.805	0.09310	N	1	D;D	0.69078	0.997;0.989	P;P	0.50754	0.649;0.548	T	0.74253	-0.3725	10	0.54805	T	0.06	.	12.6975	0.57012	0.0:1.0:0.0:0.0	.	680;666	Q4LE67;O14594	.;NCAN_HUMAN	M	680;666;117	ENSP00000252575:T666M;ENSP00000442202:T117M	ENSP00000252575:T666M	T	+	2	0	NCAN	19199426	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.795000	0.26972	2.453000	0.82957	0.561000	0.74099	ACG	-	NULL		0.612	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	protein_coding	OTTHUMT00000460111.2	C	NM_004386	rs111534277		19338426	1	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	SNP	0.006	T	T	19338426	C	T	19338426	3	4	111	1	0	0	0	0	1	0	0	0	10206	536	19	1	2023	1	NCAN	19	19338426	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	10276107	19338426	39790557	110	7478											
TM6SF2	53345	genome.wustl.edu	37	chr19	19378468	19378468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagggtcccgcaggtatgGctcatactggtagatataga	12	9	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:19378468G>T	ENST00000389363.4	-	8	838	c.766C>A	c.(766-768)Cca>Aca	p.P256T	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	256						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CGCAGGTATGGCTCATACTGG	0.577																																																	0								ENSG00000213996						47	49	48					19																	19378468		1982	4161	6143	TM6SF2	SO:0001583	missense	0			-	HGNC	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.766C>A	19.37:g.19378468G>T	ENSP00000374014:p.Pro256Thr	Somatic	0	33	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q0IJ64	Missense_Mutation	SNP							pfam_Transmembrane_6/97	p.P256T	ENST00000389363.4	37	c.766	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430033	0.83776	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.37058	1.22	4.87	4.87	0.63330	.	0.000000	0.47093	U	0.000250	T	0.62282	0.2415	M	0.78637	2.42	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.68096	-0.5499	10	0.87932	D	0	-8.0474	16.5629	0.84570	0.0:0.0:1.0:0.0	.	256	Q9BZW4	TM6S2_HUMAN	T	256	ENSP00000374014:P256T	ENSP00000269990:P256T	P	-	1	0	TM6SF2	19239468	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	8.778000	0.91785	2.250000	0.74265	0.462000	0.41574	CCA	-	pfam_Transmembrane_6/97		0.577	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	protein_coding	OTTHUMT00000460122.2	G	NM_203510	-		19378468	-1	no_errors	ENST00000389363	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19378468	G	T	19378468	3	4	111	1	0	0	0	0	1	0	0	0	15980	1203	42	3	379	3	TM6SF2	19	19378468	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	40042	19378468	39750515	111	7479											
ZNF257	113835	genome.wustl.edu	37	chr19	22271887	22271887	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctttaaccggtcttcataCcttattcgacataagataat	5	10	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:22271887C>A	ENST00000594947.1	+	4	1479	c.1335C>A	c.(1333-1335)taC>taA	p.Y445*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTCTTCATACCTTATTCGAC	0.398																																																	0								ENSG00000197134						47	52	50					19																	22271887		2125	4254	6379	ZNF257	SO:0001587	stop_gained	0			-	HGNC	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1335C>A	19.37:g.22271887C>A	ENSP00000470209:p.Tyr445*	Somatic	0	43	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	B3KPS4|E9PG34|Q8NE34	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y445*	ENST00000594947.1	37	c.1335	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862816	0.51482	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.0519	0.13824	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0147	0.06055	0.261:0.5303:0.0:0.2088	.	.	.	.	X	445;417	.	ENSP00000380312:Y417X	Y	+	3	2	ZNF257	22063727	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-2.425000	0.01028	0.518000	0.28383	0.313000	0.20887	TAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	protein_coding	OTTHUMT00000464382.1	C		-		22271887	1	no_errors	ENST00000594947	ensembl	human	known	74_37	nonsense	SNP	0.002	A	A	22271887	C	A	22271887	4	1	111	1	0	0	0	0	0	1	0	0	17807	518	18	3	1349	3	ZNF257	19	22271887	Nonsense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	2893419	22271887	36857096	112	7480											
C19orf40	91442	genome.wustl.edu	37	chr19	33464449	33464449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatggctacagaaagaGgcttgttcgggttagaaatg	14	4	0	3			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:33464449G>A	ENST00000588258.1	+	3	334	c.224G>A	c.(223-225)aGg>aAg	p.R75K	C19orf40_ENST00000590281.1_Missense_Mutation_p.R75K|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	75					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TACAGAAAGAGGCTTGTTCGG	0.502								Direct reversal of damage																																									0								ENSG00000131944						124	117	119					19																	33464449		2203	4300	6503	C19orf40	SO:0001583	missense	0			-	HGNC	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.224G>A	19.37:g.33464449G>A	ENSP00000466121:p.Arg75Lys	Somatic	0	22	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP							superfamily_RuvA_2-like	p.R75K	ENST00000588258.1	37	c.224	CCDS12426.1	19	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146404	0.21288	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.68	3.64	0.41730	.	0.086330	0.85682	N	0.000000	T	0.42810	0.1219	L	0.28344	0.845	0.35531	D	0.802217	B	0.15141	0.012	B	0.12156	0.007	T	0.45963	-0.9225	9	0.25106	T	0.35	-15.7144	12.8779	0.57999	0.0806:0.0:0.9194:0.0	.	75	Q9BTP7	FAP24_HUMAN	K	75	.	ENSP00000254262:R75K	R	+	2	0	C19orf40	38156289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.263000	0.58853	1.102000	0.41551	0.585000	0.79938	AGG	-	NULL		0.502	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf40	protein_coding	OTTHUMT00000450823.2	G	NM_152266	-		33464449	1	no_errors	ENST00000588258	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33464449	G	A	33464449	3	1	111	1	0	0	0	0	1	0	0	0	1925	1000	35	2	230	2	C19orf40	19	33464449	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	11192562	33464449	25664534	113	7481											
NPHS1	4868	genome.wustl.edu	37	chr19	36340496	36340496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgggggcctccagtGctgggctagacgcctcacag	14	13	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:36340496G>T	ENST00000378910.5	-	6	667	c.668C>A	c.(667-669)gCa>gAa	p.A223E	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.A223E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	223	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCTCCAGTGCTGGGCTAGA	0.572																																																	0								ENSG00000161270						80	76	77					19																	36340496		2203	4300	6503	NPHS1	SO:0001583	missense	0			-	HGNC		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.668C>A	19.37:g.36340496G>T	ENSP00000368190:p.Ala223Glu	Somatic	0	17	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	A6NDH2|C3RX61	Missense_Mutation	SNP							pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A223E	ENST00000378910.5	37	c.668	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987178	0.74589	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.76839	-1.05;-1.05	5.53	5.53	0.82687	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.110837	0.64402	D	0.000011	D	0.84817	0.5556	L	0.59436	1.845	0.58432	D	0.999997	D	0.71674	0.998	P	0.61275	0.886	D	0.86146	0.1584	10	0.87932	D	0	-4.515	16.9419	0.86220	0.0:0.0:1.0:0.0	.	223	O60500	NPHN_HUMAN	E	223	ENSP00000368190:A223E;ENSP00000343634:A223E	ENSP00000343634:A223E	A	-	2	0	NPHS1	41032336	1.000000	0.71417	0.984000	0.44739	0.360000	0.29518	4.683000	0.61679	2.607000	0.88179	0.591000	0.81541	GCA	-	pfam_CD80_C2-set		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	G		-		36340496	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	SNP	0.990	T	T	36340496	G	T	36340496	3	4	111	1	0	0	0	0	1	0	0	0	10584	1319	46	3	3153	3	NPHS1	19	36340496	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	2876047	36340496	22788487	114	7482											
ARHGEF1	9138	genome.wustl.edu	37	chr19	42408394	42408396	+	In_Frame_Del	DEL	CTG	CTG	-													atgtgctgctgctggacgacCtgctgctgctgctccagcgc							TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:42408394_42408396delCTG	ENST00000354532.3	+	22	2168_2170	c.2020_2022delCTG	c.(2020-2022)ctgdel	p.L678del	ARHGEF1_ENST00000599846.1_In_Frame_Del_p.L734del|ARHGEF1_ENST00000378152.4_In_Frame_Del_p.L660del|ARHGEF1_ENST00000347545.4_In_Frame_Del_p.L645del|ARHGEF1_ENST00000337665.4_In_Frame_Del_p.L693del	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	678	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GCTGGACGACCTGCTGCTGCTGC	0.7																																																	0								ENSG00000076928																																			ARHGEF1	SO:0001651	inframe_deletion	0				HGNC	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.2020_2022delCTG	19.37:g.42408403_42408405delCTG	ENSP00000346532:p.Leu678del	Somatic	0	22	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	In_Frame_Del	DEL							pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L692in_frame_del	ENST00000354532.3	37	c.2065_2067	CCDS12591.1	19																																																																																			-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.7	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	protein_coding	OTTHUMT00000463360.1	CTG	NM_199002			42408396	1	no_errors	ENST00000337665	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	42408396	CTG	-	42408394	7	5	111	1	0	1	0	1	0	0	0	0	893	680	24	0	2151	0	ARHGEF1	19	42408394	In_Frame_Del	DEL	CTG	TCGA-DX-AATS-01A-12D-A417-09	6067898	42408394	16720589	115	7483											
ZNF234	10780	genome.wustl.edu	37	chr19	44661134	44661137	+	Frame_Shift_Del	DEL	GTAA	GTAA	-													atacaaatgtgaggactgtgGtaagtgtttcacttgtagct							TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:44661134_44661137delGTAA	ENST00000426739.2	+	6	1223_1226	c.965_968delGTAA	c.(964-969)ggtaagfs	p.GK322fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.GK322fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	322					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGGACTGTGGTAAGTGTTTCACT	0.417																																																	0								ENSG00000263002																																			ZNF234	SO:0001589	frameshift_variant	0				HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.965_968delGTAA	19.37:g.44661134_44661137delGTAA	ENSP00000400878:p.Gly322fs	Somatic	0	57	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K323fs	ENST00000426739.2	37	c.965_968	CCDS46101.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.417	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	GTAA				44661137	1	no_errors	ENST00000426739	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.976:0.987:0.973	-	-	44661137	GTAA	-	44661134	7	5	111	1	0	1	0	1	0	0	0	0	17794	1261	44	0	979	0	ZNF234	19	44661134	Frame_Shift_Del	DEL	GTAA	TCGA-DX-AATS-01A-12D-A417-09	2252740	44661134	14467849	116	7484											
MYH14	79784	genome.wustl.edu	37	chr19	50766628	50766628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgcagcggaactgcgCggcctacctcaagctgagac	14	12	1	2	rs202065396		TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:50766628C>T	ENST00000596571.1	+	19	2522	c.2522C>T	c.(2521-2523)gCg>gTg	p.A841V	MYH14_ENST00000440075.2_Missense_Mutation_p.A882V|MYH14_ENST00000262269.8_Missense_Mutation_p.A882V|MYH14_ENST00000425460.1_Missense_Mutation_p.A849V|MYH14_ENST00000376970.2_Missense_Mutation_p.A874V|MYH14_ENST00000601313.1_Missense_Mutation_p.A882V|MYH14_ENST00000598205.1_Missense_Mutation_p.A849V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	841					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)			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)		CGGAACTGCGCGGCCTACCTC	0.657													C|||	1	0.000199681	0	0	5008	,	,		15195	0		0.001	False		,,,				2504	0																0								ENSG00000105357	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4382		0,0,2191	19	23	22		2546,2645,2522	3.4	0.2	19		22	2,8586		0,2,4292	yes	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	64,64,64	0,2,6483	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	849/2004,882/2037,841/1996	50766628	2,12968	2191	4294	6485	MYH14	SO:0001583	missense	0			-	HGNC	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.2522C>T	19.37:g.50766628C>T	ENSP00000472819:p.Ala841Val	Somatic	0	52	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A882V	ENST00000596571.1	37	c.2645	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319412	0.41096	0.0	2.33E-4	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	3.43	3.43	0.39272	.	.	.	.	.	T	0.77844	0.4191	M	0.81614	2.55	0.58432	D	0.999992	D;D;P	0.61697	0.99;0.98;0.93	P;B;B	0.51615	0.675;0.123;0.067	T	0.82118	-0.0615	9	0.66056	D	0.02	.	12.7358	0.57222	0.0:1.0:0.0:0.0	.	882;841;849	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	841;882;874;849;841;882	ENSP00000406273:A882V;ENSP00000366169:A874V;ENSP00000407879:A849V;ENSP00000262269:A882V	ENSP00000262269:A882V	A	+	2	0	MYH14	55458440	1.000000	0.71417	0.228000	0.23943	0.490000	0.33462	7.487000	0.81328	1.924000	0.55735	0.313000	0.20887	GCG	-	superfamily_P-loop_NTPase		0.657	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729	rs202065396		50766628	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	SNP	0.987	T	T	50766628	C	T	50766628	3	4	111	1	0	0	0	0	1	0	0	0	10035	768	27	1	2727	1	MYH14	19	50766628	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	6105494	50766628	8362355	117	7485											
ZNF615	284370	genome.wustl.edu	37	chr19	52505095	52505095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagagtagatttcatctTctgttgtgcaagtttcttct	8	7	5	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:52505095T>C	ENST00000602063.1	-	5	558	c.209A>G	c.(208-210)gAa>gGa	p.E70G	ZNF615_ENST00000391795.3_Missense_Mutation_p.E75G|ZNF615_ENST00000376716.5_Missense_Mutation_p.E70G|ZNF615_ENST00000597747.1_Missense_Mutation_p.E70G|ZNF615_ENST00000594083.1_Missense_Mutation_p.E70G|ZNF615_ENST00000598071.1_Missense_Mutation_p.E70G|ZNF615_ENST00000595114.1_5'Flank			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	70	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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATTTCATCTTCTGTTGTGCA	0.478																																																	0								ENSG00000197619						176	130	145					19																	52505095		2203	4300	6503	ZNF615	SO:0001583	missense	0			-	HGNC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.209A>G	19.37:g.52505095T>C	ENSP00000473089:p.Glu70Gly	Somatic	0	65	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E70G	ENST00000602063.1	37	c.209	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	T	9.520	1.107928	0.20714	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.10382	2.91;2.88	2.55	1.5	0.22942	Krueppel-associated box (1);	.	.	.	.	T	0.12390	0.0301	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.31655	0.225;0.334;0.334;0.225	B;B;B;B	0.37144	0.122;0.242;0.242;0.122	T	0.27706	-1.0066	9	0.56958	D	0.05	.	5.6797	0.17769	0.0:0.0:0.2821:0.7179	.	75;66;70;70	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	G	70;69;75;69	ENSP00000365906:E70G;ENSP00000375672:E75G	ENSP00000347019:E69G	E	-	2	0	ZNF615	57196907	0.001000	0.12720	0.001000	0.08648	0.111000	0.19643	0.410000	0.21098	0.390000	0.25115	0.529000	0.55759	GAA	-	pfscan_Krueppel-associated_box		0.478	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	protein_coding	OTTHUMT00000462391.1	T	NM_198480	-		52505095	-1	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	SNP	0.000	C	C	52505095	T	C	52505095	3	2	111	1	0	0	0	0	1	0	0	0	18047	1783	62	5	1994	5	ZNF615	19	52505095	Missense_Mutation	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	1738467	52505095	6623888	118	7486											
ZNF419	79744	genome.wustl.edu	37	chr19	58005000	58005000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagccacaagtccaaccttAtcaaacattggcgtgttcat	6	11	2	0			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:58005000A>G	ENST00000221735.7	+	5	1261	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	ZNF419_ENST00000347466.6_Missense_Mutation_p.I327V|ZNF419_ENST00000426954.2_Missense_Mutation_p.I347V|ZNF419_ENST00000354197.4_Missense_Mutation_p.I347V|ZNF419_ENST00000415379.2_Missense_Mutation_p.I313V|ZNF419_ENST00000424930.2_Missense_Mutation_p.I360V|ZNF419_ENST00000442920.2_Missense_Mutation_p.I346V|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GTCCAACCTTATCAAACATTG	0.413																																																	0								ENSG00000105136						84	88	87					19																	58005000		2202	4299	6501	ZNF419	SO:0001583	missense	0			-	HGNC	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1075A>G	19.37:g.58005000A>G	ENSP00000221735:p.Ile359Val	Somatic	0	122	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	7	81.58	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I360V	ENST00000221735.7	37	c.1078	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	14.50	2.552768	0.45487	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21	2.36	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.05306	-0.075	0.09310	N	1	B;B;B;B;P;B;P	0.38280	0.298;0.232;0.437;0.232;0.625;0.383;0.625	B;B;B;B;B;B;B	0.33799	0.08;0.084;0.17;0.122;0.124;0.106;0.124	T	0.40979	-0.9534	9	0.23891	T	0.37	.	3.8104	0.08795	0.6433:0.2228:0.1338:0.0	.	313;313;346;347;360;327;359	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	334;360;347;347;346;360;327;313;359	ENSP00000388864:I360V;ENSP00000390916:I347V;ENSP00000346136:I347V;ENSP00000414709:I346V;ENSP00000299860:I327V;ENSP00000392129:I313V;ENSP00000221735:I359V	ENSP00000221735:I359V	I	+	1	0	ZNF419	62696812	0.000000	0.05858	0.001000	0.08648	0.524000	0.34500	-0.219000	0.09228	0.136000	0.18733	0.172000	0.16884	ATC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	protein_coding	OTTHUMT00000378506.1	A	NM_024691	-		58005000	1	no_errors	ENST00000424930	ensembl	human	known	74_37	missense	SNP	0.002	G	G	58005000	A	G	58005000	3	3	111	1	0	0	0	0	1	0	0	0	17903	449	16	5	1096	5	ZNF419	19	58005000	Missense_Mutation	SNP	A	TCGA-DX-AATS-01A-12D-A417-09	5499905	58005000	1123983	119	7487											
ZNF544	27300	genome.wustl.edu	37	chr19	58772852	58772852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagaagccagtgcattttGggaaaagtcagtatgagtgt	12	5	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr19:58772852G>T	ENST00000596652.1	+	6	1114	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.G294W|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.G266W|ZNF544_ENST00000599953.1_Missense_Mutation_p.G152W|ZNF544_ENST00000415203.2_Missense_Mutation_p.G266W|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.G266W			Q6NX49	ZN544_HUMAN	zinc finger protein 544	294					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(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTGCATTTTGGGAAAAGTCA	0.448																																																	0								ENSG00000198131						69	67	68					19																	58772852		2203	4300	6503	ZNF544	SO:0001583	missense	0			-	HGNC	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.880G>T	19.37:g.58772852G>T	ENSP00000469635:p.Gly294Trp	Somatic	0	52	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K6J1|Q9UEX4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G294W	ENST00000596652.1	37	c.880	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965785	0.34659	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.21734	1.99;1.99	2.69	0.324	0.15898	.	.	.	.	.	T	0.42291	0.1196	M	0.80332	2.49	0.22171	N	0.999314	D;D;D	0.89917	1.0;0.963;0.963	D;P;P	0.78314	0.991;0.64;0.64	T	0.16453	-1.0402	9	0.87932	D	0	.	6.0728	0.19899	0.3035:0.0:0.6965:0.0	.	266;266;294	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	W	294;266	ENSP00000269829:G294W;ENSP00000394341:G266W	ENSP00000269829:G294W	G	+	1	0	ZNF544	63464664	0.170000	0.23016	0.008000	0.14137	0.047000	0.14425	1.848000	0.39309	0.010000	0.14839	0.655000	0.94253	GGG	-	NULL		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	protein_coding	OTTHUMT00000466754.1	G	NM_014480	-		58772852	1	no_errors	ENST00000269829	ensembl	human	known	74_37	missense	SNP	0.048	T	T	58772852	G	T	58772852	3	4	111	1	0	0	0	0	1	0	0	0	17984	1348	47	3	894	3	ZNF544	19	58772852	Missense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09	767852	58772852	356131	120	7488											
RALGAPA2	57186	genome.wustl.edu	37	chr20	20620468	20620468	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagtatttgaagaaaaaaGcaggtttggtcctcagcaat	9	6	1	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr20:20620468G>T	ENST00000202677.7	-	7	634	c.627C>A	c.(625-627)tgC>tgA	p.C209*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	209					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						GAAGAAAAAAGCAGGTTTGGT	0.373																																																	0								ENSG00000188559						142	132	135					20																	20620468		1812	4093	5905	RALGAPA2	SO:0001587	stop_gained	0			-	HGNC	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.627C>A	20.37:g.20620468G>T	ENSP00000202677:p.Cys209*	Somatic	0	111	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	54	43.75	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP							pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.C209*	ENST00000202677.7	37	c.627	CCDS46584.1	20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	6.997160|6.997160|6.997160	0.97990|0.97990|0.97990	.|.|.	.|.|.	ENSG00000188559|ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000432524	.|.|.	.|.|.	.|.|.	5.54|5.54|5.54	4.58|4.58|4.58	0.56647|0.56647|0.56647	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.64811|.|0.64811	0.2632|.|0.2632	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.70963|.|0.70963	-0.4729|.|-0.4729	3|.|3	.|0.56958|.	.|D|.	.|0.05|.	.|.|.	14.3368|14.3368|14.3368	0.66595|0.66595|0.66595	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	26|209;61;61;209|61	.|.|.	.|ENSP00000202677:C209X|.	A|C|L	-|-|-	2|3|1	0|2|0	RALGAPA2|RALGAPA2|RALGAPA2	20568468|20568468|20568468	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	4.856000|4.856000|4.856000	0.62932|0.62932|0.62932	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCT|TGC|CTT	-	NULL		0.373	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	protein_coding	OTTHUMT00000471941.1	G	NM_020343	-		20620468	-1	no_errors	ENST00000202677	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	20620468	G	T	20620468	4	4	111	1	0	0	0	0	0	1	0	0	13022	963	34	3	5126	3	RALGAPA2	20	20620468	Nonsense_Mutation	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		20620468	42405052	121	7489											
GCFC1	94104	genome.wustl.edu	37	chr21	34109575	34109575	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaaaattaccttgcatttcTtttttccacatcagaacacc	2	12	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr21:34109575T>A	ENST00000331923.4	-	17	2815	c.2626A>T	c.(2626-2628)Aga>Tga	p.R876*	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	876					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTGCATTTCTTTTTTCCACA	0.294																																																	0								ENSG00000159086						66	65	65					21																	34109575		2202	4298	6500	PAXBP1	SO:0001587	stop_gained	0			-	HGNC	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2626A>T	21.37:g.34109575T>A	ENSP00000328992:p.Arg876*	Somatic	0	162	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	92	10.68	D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP							pfam_GCFC_dom	p.R876*	ENST00000331923.4	37	c.2626	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	T	40	8.247921	0.98724	.	.	ENSG00000159086	ENST00000331923	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.0001	14.8781	0.70510	0.0:0.0:0.0:1.0	.	.	.	.	X	876	.	ENSP00000328992:R876X	R	-	1	2	GCFC1	33031446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.119000	0.50422	2.129000	0.65627	0.460000	0.39030	AGA	-	NULL		0.294	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	protein_coding	OTTHUMT00000139563.1	T	NM_013329	-		34109575	-1	no_errors	ENST00000331923	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	34109575	T	A	34109575	4	1	111	1	0	0	0	0	0	1	0	0	6291	1617	56	5	135	5	GCFC1	21	34109575	Nonsense_Mutation	SNP	T	TCGA-DX-AATS-01A-12D-A417-09		34109575	14020320	122	7490											
APOBEC3F	200316	genome.wustl.edu	37	chr22	39439095	39439095	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagatctttcgaggccaGgtaccacccggacttcaatc	9	13	2	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr22:39439095G>A	ENST00000308521.5	+	2	528	c.171G>A	c.(169-171)caG>caA	p.Q57Q	APOBEC3F_ENST00000381565.2_Splice_Site_p.Q57Q|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	57					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TTCGAGGCCAGGTACCACCCG	0.562																																																	0								ENSG00000128394						60	53	56					22																	39439095		2203	4300	6503	APOBEC3F	SO:0001630	splice_region_variant	0			-	HGNC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.171+1G>A	22.37:g.39439095G>A		Somatic	0	78	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	69	9.21	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP							pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.Q57	ENST00000308521.5	37	c.171	CCDS33648.1	22																																																																																			-	pfam_APOBEC_N		0.562	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	protein_coding	OTTHUMT00000321216.1	G	NM_145298	-	Silent	39439095	1	no_errors	ENST00000308521	ensembl	human	known	74_37	silent	SNP	0.066	A	A	39439095	G	A	39439095	5	1	111	1	0	0	0	0	0	0	1	0	793	1014	35	2	177	2	APOBEC3F	22	39439095	Splice_Site	SNP	G	TCGA-DX-AATS-01A-12D-A417-09		39439095	11865471	123	7491											
CENPM	79019	genome.wustl.edu	37	chr22	42335197	42335197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggtggccctaaagccttCcacctgcggggagagcagag	14	12	0	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chr22:42335197C>T	ENST00000215980.5	-	6	493	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	CENPM_ENST00000404067.1_Missense_Mutation_p.G71E|CENPM_ENST00000407253.3_Missense_Mutation_p.G105E|CENPM_ENST00000402420.1_3'UTR|CENPM_ENST00000472374.2_Missense_Mutation_p.E14K|CENPM_ENST00000402338.1_Missense_Mutation_p.E102K	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	136					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CTAAAGCCTTCCACCTGCGGG	0.657																																																	0								ENSG00000100162						20	19	20					22																	42335197		2195	4297	6492	CENPM	SO:0001583	missense	0			-	HGNC	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"chromosome 22 open reading frame 18"	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.406G>A	22.37:g.42335197C>T	ENSP00000215980:p.Glu136Lys	Somatic	0	21	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP							pfam_Centromere_Cenp-M	p.E136K	ENST00000215980.5	37	c.406	CCDS14025.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.457046|4.457046	0.84317|0.84317	.|.	.|.	ENSG00000100162|ENSG00000100162	ENST00000215980;ENST00000472374;ENST00000402338|ENST00000404067;ENST00000407253	.|.	.|.	.|.	4.39|4.39	3.28|3.28	0.37604|0.37604	.|.	0.373354|.	0.30060|.	N|.	0.010511|.	T|T	0.68705|0.68705	0.3030|0.3030	M|M	0.63843|0.63843	1.955|1.955	0.52501|0.52501	D|D	0.999954|0.999954	P;B|D	0.50156|0.76494	0.932;0.011|0.999	P;B|D	0.47827|0.70487	0.558;0.026|0.969	T|T	0.70447|0.70447	-0.4869|-0.4869	9|8	0.51188|0.72032	T|D	0.08|0.01	-15.2565|-15.2565	9.0541|9.0541	0.36394|0.36394	0.2191:0.7809:0.0:0.0|0.2191:0.7809:0.0:0.0	.|.	14;136|105	Q9NSP4-3;Q9NSP4|B1AHQ9	.;CENPM_HUMAN|.	K|E	136;14;102|71;105	.|.	ENSP00000215980:E136K|ENSP00000384814:G71E	E|G	-|-	1|2	0|0	CENPM|CENPM	40665143|40665143	0.032000|0.032000	0.19561|0.19561	0.961000|0.961000	0.40146|0.40146	0.528000|0.528000	0.34623|0.34623	1.179000|1.179000	0.31993|0.31993	2.180000|2.180000	0.69256|0.69256	0.561000|0.561000	0.74099|0.74099	GAA|GGA	-	pfam_Centromere_Cenp-M		0.657	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPM	protein_coding	OTTHUMT00000322058.1	C	NM_024053	-		42335197	-1	no_errors	ENST00000215980	ensembl	human	known	74_37	missense	SNP	0.473	T	T	42335197	C	T	42335197	3	4	111	1	0	0	0	0	1	0	0	0	3239	864	30	2	140	2	CENPM	22	42335197	Missense_Mutation	SNP	C	TCGA-DX-AATS-01A-12D-A417-09	2896102	42335197	8969369	124	7492											
GPR82	27197	genome.wustl.edu	37	chrX	41586873	41586873	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggaactaggagccatgatCtctcagattgcaggtctcat	10	9	3	2			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:41586873C>A	ENST00000302548.4	+	3	834	c.594C>A	c.(592-594)atC>atA	p.I198I	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						GAGCCATGATCTCTCAGATTG	0.393																																																	0								ENSG00000171657						101	87	92					X																	41586873		2203	4300	6503	GPR82	SO:0001819	synonymous_variant	0			-	HGNC	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"GPCR / Class A : Orphans"	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	ENST00000302548.4:c.594C>A	X.37:g.41586873C>A		Somatic	0	40	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q5VT13	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I198	ENST00000302548.4	37	c.594	CCDS14259.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.393	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR82	protein_coding	OTTHUMT00000056261.1	C	NM_080817	-		41586873	1	no_errors	ENST00000302548	ensembl	human	known	74_37	silent	SNP	0.059	A	A	41586873	C	A	41586873	2	1	111	1	0	0	0	0	0	0	0	1	6714	903	32	3		3	GPR82	23	41586873	Silent	SNP	C	TCGA-DX-AATS-01A-12D-A417-09		41586873	113683687	125	7493											
ATRX	546	genome.wustl.edu	37	chrX	76939398	76939419	+	Frame_Shift_Del	DEL	ACAAGGTTTTTCTCCTTTTCGT	ACAAGGTTTTTCTCCTTTTCGT	-													atatccttcttttccaaagcAcaaggtttttctccttttcg							TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	ACAAGGTTTTTCTCCTTTTCGT	ACAAGGTTTTTCTCCTTTTCGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:76939398_76939419delACAAGGTTTTTCTCCTTTTCGT	ENST00000373344.5	-	9	1543_1564	c.1329_1350delACGAAAAGGAGAAAAACCTTGT	c.(1327-1350)gcacgaaaaggagaaaaaccttgtfs	p.ARKGEKPC443fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ARKGEKPC405fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	443					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTCCAAAGCACAAGGTTTTTCTCCTTTTCGTGCTTTTGTTT	0.36			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1329_1350delACGAAAAGGAGAAAAACCTTGT	X.37:g.76939398_76939419delACAAGGTTTTTCTCCTTTTCGT	ENSP00000362441:p.Ala443fs	Somatic					0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R444fs	ENST00000373344.5	37	c.1350_1329	CCDS14434.1	X																																																																																			-	NULL		0.36	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	ACAAGGTTTTTCTCCTTTTCGT	NM_000489			76939419	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.005:0.711:0.853:0.965:0.963:0.984:0.989:0.985:0.987:1.000:0.999:0.997:0.900:0.041:0.004:0.000:0.001	-	-	76939419	ACAAGGTTTTTCTCCTTTTCGT	-	76939398	7	5	111	1	0	1	0	1	0	0	0	0	1208	157	6	0	6236	0	ATRX	23	76939398	Frame_Shift_Del	DEL	ACAAGGTTTTTCTCCTTTTCGT	TCGA-DX-AATS-01A-12D-A417-09	35352525	76939398	78331162	126	7494											
GPR174	84636	genome.wustl.edu	37	chrX	78427344	78427344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattctgtggcattgtgtctTgctagtctgaattcatgtct	9	8	5	1			TCGA-DX-AATS-01A-12D-A417-09	TCGA-DX-AATS-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43fdb154-9d2c-4534-bd95-7d1a697adaca	e7741100-a22b-4389-9dcc-838eeff5765e	g.chrX:78427344T>C	ENST00000276077.1	+	1	876	c.840T>C	c.(838-840)ctT>ctC	p.L280L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CATTGTGTCTTGCTAGTCTGA	0.393										HNSCC(63;0.18)																																							0								ENSG00000147138						175	148	157					X																	78427344		2203	4300	6503	GPR174	SO:0001819	synonymous_variant	0			-	HGNC	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.840T>C	X.37:g.78427344T>C		Somatic	0	23	0		0.617746826397513				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	Q2M3F7	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L280	ENST00000276077.1	37	c.840	CCDS14443.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	protein_coding	OTTHUMT00000057327.1	T	NM_032553	-		78427344	1	no_errors	ENST00000276077	ensembl	human	known	74_37	silent	SNP	0.987	C	C	78427344	T	C	78427344	2	2	111	1	0	0	0	0	0	0	0	1	6674	1799	63	5		5	GPR174	23	78427344	Silent	SNP	T	TCGA-DX-AATS-01A-12D-A417-09	1487946	78427344	76843216	127	7495											
TAS1R3	83756	genome.wustl.edu	37	chr1	1266876	1266876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggccgaggaggctggcCtccgcagccggacacggccc	17	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:1266876C>T	ENST00000339381.5	+	1	183	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	51					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|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)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGAGGCTGGCCTCCGCAGCCG	0.692																																																	0								ENSG00000169962						8	9	9					1																	1266876		2147	4229	6376	TAS1R3	SO:0001583	missense	0			-	HGNC	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.151C>T	1.37:g.1266876C>T	ENSP00000344411:p.Leu51Phe	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	32	54.93	Q5TA49|Q8NGW9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.L51F	ENST00000339381.5	37	c.151	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	C	9.730	1.162018	0.21538	.	.	ENSG00000169962	ENST00000339381	D	0.86694	-2.16	4.11	-0.433	0.12287	.	0.768534	0.11352	N	0.572881	T	0.68504	0.3008	N	0.08118	0	0.09310	N	1	B	0.25390	0.125	B	0.22152	0.038	T	0.54139	-0.8338	10	0.09084	T	0.74	.	7.72	0.28727	0.0:0.5912:0.0:0.4088	.	51	Q7RTX0	TS1R3_HUMAN	F	51	ENSP00000344411:L51F	ENSP00000344411:L51F	L	+	1	0	TAS1R3	1256739	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.111000	0.10807	-0.275000	0.09219	-1.745000	0.00682	CTC	-	superfamily_Peripla_BP_I		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	protein_coding	OTTHUMT00000008493.1	C		-		1266876	1	no_errors	ENST00000339381	ensembl	human	known	74_37	missense	SNP	0.001	T	T	1266876	C	T	1266876	3	4	112	1	0	0	0	0	1	0	0	0	15571	681	24	2	153	2	TAS1R3	1	1266876	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		1266876	247983745	1	7496											
ATAD3B	83858	genome.wustl.edu	37	chr1	1425758	1425758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagcgcctggtgagaCtgcattttgacaactgtgtt	14	8	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:1425758C>T	ENST00000308647.7	+	14	1575	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	487						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGGTGAGACTGCATTTTGA	0.587																																																	0								ENSG00000160072						75	65	69					1																	1425758		2202	4299	6501	ATAD3B	SO:0001819	synonymous_variant	0			-	HGNC	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1459C>T	1.37:g.1425758C>T		Somatic	0	128	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	69	49.64	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP							pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L487	ENST00000308647.7	37	c.1459	CCDS30.1	1																																																																																			-	superfamily_P-loop_NTPase		0.587	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	protein_coding	OTTHUMT00000001369.2	C	NM_031921	-		1425758	1	no_errors	ENST00000308647	ensembl	human	known	74_37	silent	SNP	0.989	T	T	1425758	C	T	1425758	2	4	112	1	0	0	0	0	0	0	0	1	1074	564	20	2		2	ATAD3B	1	1425758	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	158882	1425758	247824863	2	7497											
MORN1	79906	genome.wustl.edu	37	chr1	2267971	2267971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggtgcaggccgcctctgGatctgccgcctgccttctag	14	14	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:2267971G>A	ENST00000378531.3	-	12	1360	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	396								p.S396F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCGCCTCTGGATCTGCCGCC	0.657																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000116151						31	33	32					1																	2267971		2203	4300	6503	MORN1	SO:0001583	missense	0			-	HGNC	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1187C>T	1.37:g.2267971G>A	ENSP00000367792:p.Ser396Phe	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	42	53.85	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP							pfam_MORN,smart_MORN	p.S396F	ENST00000378531.3	37	c.1187	CCDS40.1	1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.067966	0.20067	.	.	ENSG00000116151	ENST00000378531	T	0.50001	0.76	2.43	1.47	0.22746	.	1.658450	0.03744	N	0.255480	T	0.35566	0.0936	L	0.29908	0.895	0.09310	N	0.999999	P	0.46277	0.875	B	0.38327	0.271	T	0.35450	-0.9788	10	0.66056	D	0.02	.	6.2625	0.20907	0.0:0.0:0.7028:0.2972	.	396	Q5T089	MORN1_HUMAN	F	396	ENSP00000367792:S396F	ENSP00000367792:S396F	S	-	2	0	MORN1	2257831	0.011000	0.17503	0.001000	0.08648	0.231000	0.25187	1.805000	0.38883	0.559000	0.29153	0.313000	0.20887	TCC	-	NULL		0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	protein_coding	OTTHUMT00000004055.1	G	NM_024848	-		2267971	-1	no_errors	ENST00000378531	ensembl	human	known	74_37	missense	SNP	0.002	A	A	2267971	G	A	2267971	3	1	112	1	0	0	0	0	1	0	0	0	9710	1174	41	2	318	2	MORN1	1	2267971	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	842213	2267971	246982650	3	7498											
CCDC27	148870	genome.wustl.edu	37	chr1	3669289	3669289	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgggacgcccggtgcccaGaatggaaaccgcaccaaaag	13	14	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:3669289G>A	ENST00000294600.2	+	1	328	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	82										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCGGTGCCCAGAATGGAAACC	0.652																																																	0								ENSG00000162592						58	57	57					1																	3669289		2203	4300	6503	CCDC27	SO:0001583	missense	0			-	HGNC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.244G>A	1.37:g.3669289G>A	ENSP00000294600:p.Glu82Lys	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	45	44.58	Q5TBV3|Q96M50	Missense_Mutation	SNP							superfamily_Prefoldin	p.E82K	ENST00000294600.2	37	c.244	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	9.674	1.147437	0.21288	.	.	ENSG00000162592	ENST00000294600	T	0.33654	1.4	3.85	1.9	0.25705	.	0.922000	0.09004	N	0.862593	T	0.37376	0.1001	L	0.32530	0.975	0.09310	N	1	D	0.54964	0.969	P	0.54431	0.752	T	0.20174	-1.0283	10	0.72032	D	0.01	-6.4123	4.9434	0.13976	0.1187:0.2195:0.6618:0.0	.	82	Q2M243	CCD27_HUMAN	K	82	ENSP00000294600:E82K	ENSP00000294600:E82K	E	+	1	0	CCDC27	3659149	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.050000	0.30404	0.573000	0.29400	0.650000	0.86243	GAA	-	NULL		0.652	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	G	NM_152492	-		3669289	1	no_errors	ENST00000294600	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3669289	G	A	3669289	3	1	112	1	0	0	0	0	1	0	0	0	2803	943	33	2	246	2	CCDC27	1	3669289	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1401318	3669289	245581332	4	7499											
H6PD	9563	genome.wustl.edu	37	chr1	9324307	9324307	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcggcgctttggccagttCcacctggcactgtcgggggg	17	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:9324307C>T	ENST00000377403.2	+	5	2057	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	H6PD_ENST00000602477.1_Silent_p.F596F	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	585	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGCCAGTTCCACCTGGCAC	0.682																																																	0								ENSG00000049239						12	14	13					1																	9324307		2201	4293	6494	H6PD	SO:0001819	synonymous_variant	0			-	HGNC	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1755C>T	1.37:g.9324307C>T		Somatic	0	71	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	Q4TT33|Q66I35|Q68DT3	Silent	SNP							pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.F585	ENST00000377403.2	37	c.1755	CCDS101.1	1																																																																																			-	tigrfam_6-phosphogluconolactonase_DevB		0.682	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	protein_coding	OTTHUMT00000004928.2	C	NM_004285	-		9324307	1	no_errors	ENST00000377403	ensembl	human	known	74_37	silent	SNP	1.000	T	T	9324307	C	T	9324307	2	4	112	1	0	0	0	0	0	0	0	1	6938	854	30	2		2	H6PD	1	9324307	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5655018	9324307	239926314	5	7500											
UBIAD1	29914	genome.wustl.edu	37	chr1	11346011	11346011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggccacacactgcacCatcagcctggcactccccct	6	20	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:11346011C>T	ENST00000376810.5	+	2	1166	c.840C>T	c.(838-840)acC>acT	p.T280T	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	280					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CACACTGCACCATCAGCCTGG	0.577																																																	0								ENSG00000120942						239	182	201					1																	11346011		2203	4300	6503	UBIAD1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.840C>T	1.37:g.11346011C>T		Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	B3KQG3|Q53GX3|Q5THD4	Silent	SNP							pfam_UbiA_prenyltransferase	p.T280	ENST00000376810.5	37	c.840	CCDS129.1	1																																																																																			-	pfam_UbiA_prenyltransferase		0.577	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	protein_coding	OTTHUMT00000005773.1	C	NM_013319	-		11346011	1	no_errors	ENST00000376810	ensembl	human	known	74_37	silent	SNP	1.000	T	T	11346011	C	T	11346011	2	4	112	1	0	0	0	0	0	0	0	1	16892	581	21	2		2	UBIAD1	1	11346011	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2021704	11346011	237904610	6	7501											
VPS13D	55187	genome.wustl.edu	37	chr1	12439591	12439591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accgcaggcgaagcacaactCagacgtggagtttccgagaa	12	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:12439591C>G	ENST00000358136.3	+	57	11261	c.11131C>G	c.(11131-11133)Cag>Gag	p.Q3711E	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3686E	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)		AAGCACAACTCAGACGTGGAG	0.502																																																	0								ENSG00000048707						141	126	131					1																	12439591		2203	4300	6503	VPS13D	SO:0001583	missense	0			-	HGNC	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.11131C>G	1.37:g.12439591C>G	ENSP00000350854:p.Gln3711Glu	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.07		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q3711E	ENST00000358136.3	37	c.11131	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.105136	0.94245	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.62232	0.04;0.06	5.19	5.19	0.71726	.	0.243035	0.43110	D	0.000602	T	0.73721	0.3623	M	0.79011	2.435	0.80722	D	1	P;P	0.45634	0.856;0.863	P;B	0.50109	0.631;0.428	T	0.76471	-0.2947	10	0.52906	T	0.07	.	18.6945	0.91596	0.0:1.0:0.0:0.0	.	3686;3710	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	3686;3711	ENSP00000348666:Q3686E;ENSP00000350854:Q3711E	ENSP00000348666:Q3686E	Q	+	1	0	VPS13D	12362178	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	7.386000	0.79775	2.573000	0.86826	0.650000	0.86243	CAG	-	NULL		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	C	NM_015378	-		12439591	1	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	SNP	1.000	G	G	12439591	C	G	12439591	3	3	112	1	0	0	0	0	1	0	0	0	17199	827	29	4	11353	4	VPS13D	1	12439591	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1093580	12439591	236811030	7	7502											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12887197	12887197	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcttgaggaactgagtggtGaactgggtaacaatctcctt	12	7	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:12887197G>A	ENST00000535591.1	-	3	855	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	220					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						ACTGAGTGGTGAACTGGGTAA	0.527																																																	0								ENSG00000204513																																			PRAMEF11	SO:0001819	synonymous_variant	0			-	HGNC	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.660C>T	1.37:g.12887197G>A		Somatic	0	250	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	212	15.87		Silent	SNP							NULL	p.F220	ENST00000535591.1	37	c.660	CCDS53268.1	1																																																																																			-	NULL		0.527	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	protein_coding		G	XM_496341	-		12887197	-1	no_errors	ENST00000535591	ensembl	human	known	74_37	silent	SNP	0.001	A	A	12887197	G	A	12887197	2	1	112	1	0	0	0	0	0	0	0	1	12432	1281	45	2		2	PRAMEF11	1	12887197	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	447606	12887197	236363424	8	7503											
PRAMEF7	441871	genome.wustl.edu	37	chr1	12979742	12979742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagtcggacttgaagcatCtctcttggtgcccgagcatc	11	12	2	2	rs147147641	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:12979742C>T	ENST00000361079.2	+	4	1017	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	312					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)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	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)		CTTGAAGCATCTCTCTTGGTG	0.567																																																	0								ENSG00000204510						51	45	47					1																	12979742		1535	3214	4749	PRAMEF7	SO:0001583	missense	0			-	HGNC		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.934C>T	1.37:g.12979742C>T	ENSP00000354371:p.Leu312Phe	Somatic	0	219	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	80	214	27.21	B9EIP0	Missense_Mutation	SNP							NULL	p.L312F	ENST00000361079.2	37	c.934	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	11.38	1.621031	0.28889	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.01629	4.72;4.72	1.68	-2.17	0.07059	.	0.000000	0.64402	D	0.000014	T	0.03959	0.0111	L	0.50993	1.605	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36648	-0.9739	10	0.45353	T	0.12	.	1.8044	0.03078	0.1977:0.4655:0.1947:0.1421	.	312	Q5VXH5	PRAM7_HUMAN	F	312	ENSP00000354371:L312F;ENSP00000328915:L312F	ENSP00000328915:L312F	L	+	1	0	PRAMEF7	12902329	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.480000	0.06559	-0.606000	0.05746	-1.210000	0.01631	CTC	-	NULL		0.567	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	protein_coding		C	NM_001012277	-		12979742	1	no_errors	ENST00000330881	ensembl	human	known	74_37	missense	SNP	0.001	T	T	12979742	C	T	12979742	3	4	112	1	0	0	0	0	1	0	0	0	12444	913	32	2	944	2	PRAMEF7	1	12979742	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	92545	12979742	236270879	9	7504											
CELA2A	63036	genome.wustl.edu	37	chr1	15788055	15788055	+	Splice_Site	SNP	G	G	A													agctcctttgcttctccccaGgtctccctgcagtacagctc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:15788055G>A	ENST00000359621.4	+	3	154		c.e3-1			NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A							extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTTCTCCCCAGGTCTCCCTGC	0.602																																																	0								ENSG00000142615						95	84	88					1																	15788055		2203	4300	6503	CELA2A	SO:0001630	splice_region_variant	0			-	HGNC		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.130-1G>A	1.37:g.15788055G>A		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	71	15.48	B2R5I4|Q14243	Splice_Site	SNP							-	e3-1	ENST00000359621.4	37	c.130-1	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374946	0.24857	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9882	0.71365	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CELA2A	15660642	1.000000	0.71417	0.991000	0.47740	0.031000	0.12232	8.994000	0.93529	1.848000	0.53677	0.306000	0.20318	.	-	-		0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	protein_coding	OTTHUMT00000006445.1	G	NM_033440	-	Intron	15788055	1	no_errors	ENST00000359621	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	15788055	G	A	15788055	5	1	112	1	0	0	0	0	0	0	1	0	3213	1014	35	2	139	2	CELA2A	1	15788055	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2808313	15788055	233462566	10	7505	107	2									
CELA2A	63036	genome.wustl.edu	37	chr1	15788056	15788056	+	Splice_Site	SNP	G	G	A													gctcctttgcttctccccagGtctccctgcagtacagctcc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:15788056G>A	ENST00000359621.4	+	3	155	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TTCTCCCCAGGTCTCCCTGCA	0.597																																																	0								ENSG00000142615						96	85	89					1																	15788056		2203	4300	6503	CELA2A	SO:0001630	splice_region_variant	0			-	HGNC		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.130-1G>A	1.37:g.15788056G>A		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	71	15.48	B2R5I4|Q14243	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V44I	ENST00000359621.4	37	c.130	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	G	0.114	-1.134359	0.01742	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.95656	-3.77	4.12	3.21	0.36854	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.128123	0.33180	U	0.005190	D	0.92629	0.7658	M	0.64676	1.99	0.32713	N	0.511359	B	0.15930	0.015	B	0.23716	0.048	D	0.88943	0.3381	9	.	.	.	.	7.4281	0.27111	0.2066:0.0:0.7934:0.0	.	44	P08217	CEL2A_HUMAN	I	44	ENSP00000352639:V44I	.	V	+	1	0	CELA2A	15660643	1.000000	0.71417	0.994000	0.49952	0.028000	0.11728	2.121000	0.41977	0.724000	0.32296	0.306000	0.20318	GTC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.597	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	protein_coding	OTTHUMT00000006445.1	G	NM_033440	-	Missense_Mutation	15788056	1	no_errors	ENST00000359621	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15788056	G	A	15788056	5	1	112	1	0	0	0	0	0	0	1	0	3213	1275	44	2	140	2	CELA2A	1	15788056	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	15788056	233462565	11	7506	107	2									
SPEN	23013	genome.wustl.edu	37	chr1	16260477	16260477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttgactctaaaaagcCtttagaagaaaaaacagcac	7	9	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16260477C>T	ENST00000375759.3	+	11	7946	c.7742C>T	c.(7741-7743)cCt>cTt	p.P2581L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2581	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)		TCTAAAAAGCCTTTAGAAGAA	0.527																																																	0								ENSG00000065526						69	78	75					1																	16260477		2203	4300	6503	SPEN	SO:0001583	missense	0			-	HGNC		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.7742C>T	1.37:g.16260477C>T	ENSP00000364912:p.Pro2581Leu	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	69	23.33	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP							pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2581L	ENST00000375759.3	37	c.7742	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	1.215	-0.628458	0.03610	.	.	ENSG00000065526	ENST00000375759	T	0.10005	2.92	5.38	5.38	0.77491	.	.	.	.	.	T	0.14570	0.0352	L	0.48642	1.525	0.26619	N	0.972698	B	0.13594	0.008	B	0.12837	0.008	T	0.07770	-1.0755	9	0.54805	T	0.06	-10.0355	18.1188	0.89565	0.0:1.0:0.0:0.0	.	2581	Q96T58	MINT_HUMAN	L	2581	ENSP00000364912:P2581L	ENSP00000364912:P2581L	P	+	2	0	SPEN	16133064	0.092000	0.21681	0.027000	0.17364	0.182000	0.23217	2.984000	0.49353	2.537000	0.85549	0.561000	0.74099	CCT	-	NULL		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	C	NM_015001	-		16260477	1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	SNP	0.159	T	T	16260477	C	T	16260477	3	4	112	1	0	0	0	0	1	0	0	0	15045	681	24	2	7784	2	SPEN	1	16260477	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	472421	16260477	232990144	12	7507											
HSPB7	27129	genome.wustl.edu	37	chr1	16344400	16344400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtggaagaggaggaggaaGaggaagaggaatggaaactt	19	1	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16344400G>A	ENST00000311890.9	-	1	885	c.59C>T	c.(58-60)tCt>tTt	p.S20F	HSPB7_ENST00000406363.2_Missense_Mutation_p.S20F|HSPB7_ENST00000375718.4_Intron|HSPB7_ENST00000545268.1_Missense_Mutation_p.S20F|HSPB7_ENST00000411503.1_Missense_Mutation_p.S20F|HSPB7_ENST00000487046.1_Missense_Mutation_p.S20F	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	20	Poly-Ser.|Required for localization to SC35 splicing speckles.				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)		ggaggaggaagaggaagagga	0.652																																																	0								ENSG00000173641						45	44	44					1																	16344400		2203	4300	6503	HSPB7	SO:0001583	missense	0			-	HGNC	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.59C>T	1.37:g.16344400G>A	ENSP00000310111:p.Ser20Phe	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	49	43.02	B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP							pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.S20F	ENST00000311890.9	37	c.59	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669498	0.47677	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375714;ENST00000487046;ENST00000406363;ENST00000545268	D;D;D;D	0.95412	-3.02;-3.02;-3.7;-3.05	3.3	3.3	0.37823	.	0.000000	0.36482	N	0.002576	D	0.90225	0.6944	N	0.24115	0.695	0.22819	N	0.998694	P;P;P;B	0.48911	0.917;0.917;0.917;0.172	P;P;P;B	0.46049	0.502;0.502;0.502;0.248	T	0.82317	-0.0517	10	0.09843	T	0.71	-5.5267	11.0613	0.47948	0.0:0.1908:0.8092:0.0	.	46;46;108;20	Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;HSPB7_HUMAN	F	20;20;108;20;20;20	ENSP00000391578:S20F;ENSP00000310111:S20F;ENSP00000419477:S20F;ENSP00000385472:S20F	ENSP00000310111:S20F	S	-	2	0	HSPB7	16216987	0.868000	0.29978	0.618000	0.29105	0.713000	0.41058	4.556000	0.60775	2.145000	0.66743	0.407000	0.27541	TCT	-	NULL		0.652	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	protein_coding	OTTHUMT00000026334.2	G	NM_014424	-		16344400	-1	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	SNP	0.317	A	A	16344400	G	A	16344400	3	1	112	1	0	0	0	0	1	0	0	0	7424	942	33	2	465	2	HSPB7	1	16344400	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	83923	16344400	232906221	13	7508											
CLCNKB	1188	genome.wustl.edu	37	chr1	16376405	16376405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagctccaaactgctggCcaccaggtaggctccgggct	12	14	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16376405C>T	ENST00000375679.4	+	10	1073	c.962C>T	c.(961-963)gCc>gTc	p.A321V	CLCNKB_ENST00000375667.3_Missense_Mutation_p.A152V	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	321					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|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)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AAACTGCTGGCCACCAGGTAG	0.587																																																	0								ENSG00000184908						112	105	108					1																	16376405		2203	4300	6503	CLCNKB	SO:0001583	missense	0			-	HGNC	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.962C>T	1.37:g.16376405C>T	ENSP00000364831:p.Ala321Val	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.A321V	ENST00000375679.4	37	c.962	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.038944	0.75617	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.92805	-3.11;-3.11	4.81	3.9	0.45041	Chloride channel, core (2);	0.261780	0.38605	N	0.001625	D	0.94076	0.8101	L	0.55103	1.725	0.46113	D	0.998872	D;D	0.76494	0.995;0.999	D;D	0.77557	0.965;0.99	D	0.93445	0.6797	10	0.52906	T	0.07	.	11.9489	0.52944	0.0:0.9161:0.0:0.0839	.	152;321	Q5T5Q7;P51801	.;CLCKB_HUMAN	V	321;152	ENSP00000364831:A321V;ENSP00000364819:A152V	ENSP00000364819:A152V	A	+	2	0	CLCNKB	16248992	0.954000	0.32549	0.999000	0.59377	0.594000	0.36715	1.987000	0.40687	1.027000	0.39758	0.561000	0.74099	GCC	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	protein_coding	OTTHUMT00000026331.1	C	NM_000085	-		16376405	1	no_errors	ENST00000375679	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16376405	C	T	16376405	3	4	112	1	0	0	0	0	1	0	0	0	3472	739	26	2	1144	2	CLCNKB	1	16376405	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	32005	16376405	232874216	14	7509											
EPHA2	1969	genome.wustl.edu	37	chr1	16460971	16460971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctgacgaacctgcggtgGataaagaagccaactcctgc	11	12	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16460971G>A	ENST00000358432.5	-	8	1828	c.1674C>T	c.(1672-1674)atC>atT	p.I558I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	558					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)	ACCTGCGGTGGATAAAGAAGC	0.607																																																	0								ENSG00000142627						68	60	63					1																	16460971		2202	4300	6502	EPHA2	SO:0001819	synonymous_variant	0			-	HGNC	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.1674C>T	1.37:g.16460971G>A		Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	101	14.41	B5A968|Q8N3Z2	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.I558	ENST00000358432.5	37	c.1674	CCDS169.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	G	NM_004431	-		16460971	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	SNP	1.000	A	A	16460971	G	A	16460971	2	1	112	1	0	0	0	0	0	0	0	1	5169	1164	41	2		2	EPHA2	1	16460971	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	84566	16460971	232789650	15	7510											
PADI3	51702	genome.wustl.edu	37	chr1	17593270	17593270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgctggtgaactgtgaCcgtgatgatccgagctgtga	13	8	1	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:17593270C>T	ENST00000375460.3	+	5	505	c.465C>T	c.(463-465)gaC>gaT	p.D155D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	155					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGAACTGTGACCGTGATGATC	0.597																																																	0								ENSG00000142619						202	158	173					1																	17593270		2203	4300	6503	PADI3	SO:0001819	synonymous_variant	0			-	HGNC	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.465C>T	1.37:g.17593270C>T		Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	38	50.00	Q58EY7|Q70SX5	Silent	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.D155	ENST00000375460.3	37	c.465	CCDS179.1	1																																																																																			-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	protein_coding	OTTHUMT00000006805.1	C		-		17593270	1	no_errors	ENST00000375460	ensembl	human	known	74_37	silent	SNP	0.999	T	T	17593270	C	T	17593270	2	4	112	1	0	0	0	0	0	0	0	1	11381	506	18	2		2	PADI3	1	17593270	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1132299	17593270	231657351	16	7511											
TAS1R2	80834	genome.wustl.edu	37	chr1	19166408	19166408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccactgagagcagcagGtccaggctggtgttgaacag	13	12	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:19166408G>A	ENST00000375371.3	-	6	2226	c.2205C>T	c.(2203-2205)gaC>gaT	p.D735D		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	735					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGAGCAGCAGGTCCAGGCTGG	0.557																																																	0								ENSG00000179002						107	102	103					1																	19166408		2203	4300	6503	TAS1R2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2205C>T	1.37:g.19166408G>A		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58	Q5TZ19	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.D735	ENST00000375371.3	37	c.2205	CCDS187.1	1																																																																																			-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.557	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	protein_coding	OTTHUMT00000006953.1	G		-		19166408	-1	no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	SNP	0.999	A	A	19166408	G	A	19166408	2	1	112	1	0	0	0	0	0	0	0	1	15570	1252	44	2		2	TAS1R2	1	19166408	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1573138	19166408	230084213	17	7512											
TAS1R2	80834	genome.wustl.edu	37	chr1	19166798	19166798	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagcagtgtcagcatcagGaagcacatggggcccccagc	13	13	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:19166798G>A	ENST00000375371.3	-	6	1836	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	605					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCAGCATCAGGAAGCACATGG	0.647																																																	0								ENSG00000179002						62	64	63					1																	19166798		2203	4300	6503	TAS1R2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1815C>T	1.37:g.19166798G>A		Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q5TZ19	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.F605	ENST00000375371.3	37	c.1815	CCDS187.1	1																																																																																			-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.647	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	protein_coding	OTTHUMT00000006953.1	G		-		19166798	-1	no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	SNP	1.000	A	A	19166798	G	A	19166798	2	1	112	1	0	0	0	0	0	0	0	1	15570	1165	41	2		2	TAS1R2	1	19166798	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	390	19166798	230083823	18	7513											
RAP1GAP	5909	genome.wustl.edu	37	chr1	21938038	21938038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacacagattcggtcccCgtctgcccgtgggtcacgtc	11	15	2	1	rs370166831		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:21938038C>T	ENST00000374765.4	-	13	950	c.750G>A	c.(748-750)acG>acA	p.T250T	RAP1GAP_ENST00000374761.2_Silent_p.T281T|RAP1GAP_ENST00000542643.2_Silent_p.T250T|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000374763.2_Silent_p.T250T|RAP1GAP_ENST00000290101.4_Silent_p.T314T	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	250	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ATTCGGTCCCCGTCTGCCCGT	0.657																																																	0								ENSG00000076864	C	,,	0,4406		0,0,2203	124	104	111		750,942,750	2.2	1	1		111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	250/682,314/728,250/664	21938038	2,13004	2203	4300	6503	RAP1GAP	SO:0001819	synonymous_variant	0			-	HGNC	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.750G>A	1.37:g.21938038C>T		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP							pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom	p.T314	ENST00000374765.4	37	c.942	CCDS218.1	1																																																																																			-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.657	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	protein_coding	OTTHUMT00000019759.2	C	NM_002885	-		21938038	-1	no_errors	ENST00000290101	ensembl	human	known	74_37	silent	SNP	1.000	T	T	21938038	C	T	21938038	2	4	112	1	0	0	0	0	0	0	0	1	13045	639	23	1		1	RAP1GAP	1	21938038	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2771240	21938038	227312583	19	7514											
C1QB	713	genome.wustl.edu	37	chr1	22987377	22987377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggattcctgggaatccagGaaaagtcggccccaagggcc	14	11	0	0	rs3211003		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:22987377G>A	ENST00000314933.6	+	3	392	c.260G>A	c.(259-261)gGa>gAa	p.G87E	C1QB_ENST00000509305.1_Missense_Mutation_p.G85E	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	87	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAATCCAGGAAAAGTCGGC	0.622																																																	0								ENSG00000173369						38	43	41					1																	22987377		2203	4300	6503	C1QB	SO:0001583	missense	0			-	HGNC	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"Complement system"	1242	protein-coding gene	gene with protein product		120570	"complement component 1, q subcomponent, beta polypeptide"			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.260G>A	1.37:g.22987377G>A	ENSP00000313967:p.Gly87Glu	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	15	64.29	Q5T959|Q96H17	Missense_Mutation	SNP							pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G87E	ENST00000314933.6	37	c.260	CCDS228.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926903	0.92319	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	H	0.94462	3.54	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98316	1.0526	10	0.87932	D	0	.	17.6906	0.88268	0.0:0.0:1.0:0.0	rs3211003;rs16827426	87	P02746	C1QB_HUMAN	E	85;85;85;87	ENSP00000426317:G85E;ENSP00000423689:G85E;ENSP00000404606:G85E;ENSP00000313967:G87E	ENSP00000313967:G87E	G	+	2	0	C1QB	22859964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.623000	0.98386	2.596000	0.87737	0.561000	0.74099	GGA	-	pfam_Collagen		0.622	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	protein_coding		G	NM_000491	rs3211003		22987377	1	no_errors	ENST00000314933	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22987377	G	A	22987377	3	1	112	1	0	0	0	0	1	0	0	0	1957	1174	41	2	266	2	C1QB	1	22987377	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1049339	22987377	226263244	20	7515											
IL22RA1	58985	genome.wustl.edu	37	chr1	24447539	24447539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaggagggggagctggCcctttaggtactgtggtgtc	19	6	0	1	rs137928018		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:24447539C>T	ENST00000270800.1	-	7	1519	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	494					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGGGAGCTGGCCCTTTAGGTA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		19740	0		0	False		,,,				2504	0																0								ENSG00000142677						141	119	126					1																	24447539		2203	4300	6503	IL22RA1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1481G>A	1.37:g.24447539C>T	ENSP00000270800:p.Gly494Asp	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.09	A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP							pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G494D	ENST00000270800.1	37	c.1481	CCDS247.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.91	1.483675	0.26598	.	.	ENSG00000142677	ENST00000270800	T	0.08546	3.08	5.69	1.15	0.20763	.	1.511770	0.03843	N	0.271063	T	0.08088	0.0202	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.39502	-0.9611	10	0.66056	D	0.02	-3.6111	8.3511	0.32303	0.0:0.6267:0.0:0.3733	.	426;494	B4E2V9;Q8N6P7	.;I22R1_HUMAN	D	494	ENSP00000270800:G494D	ENSP00000270800:G494D	G	-	2	0	IL22RA1	24320126	0.000000	0.05858	0.002000	0.10522	0.795000	0.44927	-0.009000	0.12765	0.347000	0.23924	0.650000	0.86243	GGC	-	NULL		0.582	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	protein_coding	OTTHUMT00000008412.1	C		rs137928018		24447539	-1	no_errors	ENST00000270800	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	24447539	C	T	24447539	3	4	112	1	0	0	0	0	1	0	0	0	7675	739	26	2	247	2	IL22RA1	1	24447539	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1460162	24447539	224803082	21	7516											
RPS6KA1	6195	genome.wustl.edu	37	chr1	26900607	26900607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtactccgcactcaacagctCcaagcccaccccccagctga	6	20	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:26900607C>T	ENST00000374168.2	+	22	2277	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S616F|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S697F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S692F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S717F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S616F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	708					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTCAACAGCTCCAAGCCCACC	0.617																																																	0								ENSG00000117676						124	104	111					1																	26900607		2203	4300	6503	RPS6KA1	SO:0001583	missense	0			-	HGNC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2123C>T	1.37:g.26900607C>T	ENSP00000363283:p.Ser708Phe	Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	46.15	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S717F	ENST00000374168.2	37	c.2150	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728277	0.48833	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382;ENST00000438977	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.44	2.41	0.29592	Protein kinase-like domain (1);	0.272209	0.43416	D	0.000572	T	0.51007	0.1649	M	0.63843	1.955	0.58432	D	0.999999	P;B	0.38617	0.64;0.171	P;B	0.49561	0.615;0.092	T	0.51718	-0.8670	10	0.72032	D	0.01	.	11.8287	0.52282	0.1296:0.6208:0.2496:0.0	.	717;708	Q15418-2;Q15418	.;KS6A1_HUMAN	F	708;697;616;616;692;717;67	ENSP00000363283:S708F;ENSP00000363281:S697F;ENSP00000431651:S616F;ENSP00000363277:S616F;ENSP00000432281:S692F;ENSP00000435412:S717F;ENSP00000403548:S67F	ENSP00000363277:S616F	S	+	2	0	RPS6KA1	26773194	1.000000	0.71417	0.996000	0.52242	0.837000	0.47467	3.789000	0.55454	0.219000	0.20840	0.313000	0.20887	TCC	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II		0.617	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	protein_coding	OTTHUMT00000011431.1	C	NM_002953	-		26900607	1	no_errors	ENST00000531382	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26900607	C	T	26900607	3	4	112	1	0	0	0	0	1	0	0	0	13658	855	30	2	2348	2	RPS6KA1	1	26900607	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2453068	26900607	222350014	22	7517											
WDTC1	23038	genome.wustl.edu	37	chr1	27632867	27632867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaggtgcagtgccggcCcagctagaccctccagccct	13	17	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:27632867C>T	ENST00000319394.3	+	16	2562	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	WDTC1_ENST00000361771.3_Missense_Mutation_p.P675L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	676					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGTGCCGGCCCAGCTAGACC	0.647																																																	0								ENSG00000142784						26	29	28					1																	27632867		2203	4300	6503	WDTC1	SO:0001583	missense	0			-	HGNC	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.2027C>T	1.37:g.27632867C>T	ENSP00000317971:p.Pro676Leu	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P676L	ENST00000319394.3	37	c.2027		1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629633	0.87660	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.63417	-0.04;-0.04	5.33	5.33	0.75918	.	0.050790	0.85682	D	0.000000	T	0.52885	0.1762	N	0.14661	0.345	0.80722	D	1	P;P	0.40731	0.608;0.728	B;B	0.42916	0.227;0.402	T	0.61232	-0.7104	10	0.87932	D	0	.	18.3657	0.90390	0.0:1.0:0.0:0.0	.	676;675	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	L	676;675	ENSP00000317971:P676L;ENSP00000355317:P675L	ENSP00000317971:P676L	P	+	2	0	WDTC1	27505454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.654000	0.90174	0.655000	0.94253	CCC	-	NULL		0.647	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	protein_coding		C	NM_015023	-		27632867	1	no_errors	ENST00000319394	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27632867	C	T	27632867	3	4	112	1	0	0	0	0	1	0	0	0	17349	623	22	2	2082	2	WDTC1	1	27632867	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	732260	27632867	221617754	23	7518											
PUM1	9698	genome.wustl.edu	37	chr1	31447610	31447610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggtagactccccagGgagtaactccataatactgg	12	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:31447610G>A	ENST00000257075.5	-	10	1487	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000440538.2_Missense_Mutation_p.P466L|PUM1_ENST00000373741.4_Missense_Mutation_p.P501L|PUM1_ENST00000373747.3_Missense_Mutation_p.P466L|PUM1_ENST00000423018.2_Missense_Mutation_p.P369L|PUM1_ENST00000424085.2_Missense_Mutation_p.P223L|PUM1_ENST00000373742.2_Missense_Mutation_p.P406L|PUM1_ENST00000426105.2_Missense_Mutation_p.P465L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	465	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACTCCCCAGGGAGTAACTCC	0.507																																																	0								ENSG00000134644						42	42	42					1																	31447610		2203	4300	6503	PUM1	SO:0001583	missense	0			-	HGNC	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1394C>T	1.37:g.31447610G>A	ENSP00000257075:p.Pro465Leu	Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	38	54.76	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP							pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.P465L	ENST00000257075.5	37	c.1394	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.571791	0.96553	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.60548	1.81;1.3;1.63;1.61;1.52;1.57;0.18;1.51	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.987;0.999;0.994;0.999;0.999;0.999;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-8.5598	20.8598	0.99761	0.0:0.0:1.0:0.0	.	406;369;501;466;465;465;466;465	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	L	223;465;466;203;465;466;501;369;406;465	ENSP00000400141:P223L;ENSP00000257075:P465L;ENSP00000362852:P466L;ENSP00000391723:P465L;ENSP00000401777:P466L;ENSP00000362846:P501L;ENSP00000399440:P369L;ENSP00000362847:P406L	ENSP00000257075:P465L	P	-	2	0	PUM1	31220197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.775000	0.98995	2.937000	0.99478	0.650000	0.86243	CCC	-	NULL		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	protein_coding	OTTHUMT00000010671.1	G		-		31447610	-1	no_errors	ENST00000426105	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31447610	G	A	31447610	3	1	112	1	0	0	0	0	1	0	0	0	12833	1232	43	2	2224	2	PUM1	1	31447610	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3814743	31447610	217803011	24	7519											
BAI2	576	genome.wustl.edu	37	chr1	32196593	32196593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccacggacaggaagctGgggtagccttcagtgtgggc	17	9	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:32196593G>A	ENST00000373658.3	-	29	4529	c.4188C>T	c.(4186-4188)ccC>ccT	p.P1396P	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.P1363P|BAI2_ENST00000398547.1_Silent_p.P1329P|BAI2_ENST00000373655.2_Silent_p.P1396P|BAI2_ENST00000398542.1_Silent_p.P1296P|BAI2_ENST00000398556.3_Silent_p.P1311P|BAI2_ENST00000527361.1_Silent_p.P1363P|BAI2_ENST00000398538.1_Silent_p.P1384P|BAI2_ENST00000440175.2_Silent_p.P1005P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1396					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACAGGAAGCTGGGGTAGCCTT	0.687																																																	0								ENSG00000121753						22	30	27					1																	32196593		2202	4300	6502	BAI2	SO:0001819	synonymous_variant	0			-	HGNC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4188C>T	1.37:g.32196593G>A		Somatic	0	130	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	93	59	61.18	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P1396	ENST00000373658.3	37	c.4188	CCDS346.2	1																																																																																			-	NULL		0.687	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	protein_coding	OTTHUMT00000381838.1	G	NM_001703	-		32196593	-1	no_errors	ENST00000373658	ensembl	human	known	74_37	silent	SNP	1.000	A	A	32196593	G	A	32196593	2	1	112	1	0	0	0	0	0	0	0	1	1299	1335	47	2		2	BAI2	1	32196593	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	748983	32196593	217054028	25	7520											
ZSCAN20	7579	genome.wustl.edu	37	chr1	33956656	33956656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaccaagtaatacctcCgagaaagagcaaggaccaga	8	10	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:33956656C>T	ENST00000361328.3	+	6	951	c.798C>T	c.(796-798)tcC>tcT	p.S266S	ZSCAN20_ENST00000373413.2_Silent_p.S212S	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	266					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAATACCTCCGAGAAAGAGC	0.438																																																	0								ENSG00000121903						57	54	55					1																	33956656		1837	4098	5935	ZSCAN20	SO:0001819	synonymous_variant	0			-	HGNC	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.798C>T	1.37:g.33956656C>T		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S266	ENST00000361328.3	37	c.798	CCDS41300.1	1																																																																																			-	NULL		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	protein_coding	OTTHUMT00000277003.2	C	NM_145238	-		33956656	1	no_errors	ENST00000361328	ensembl	human	known	74_37	silent	SNP	0.001	T	T	33956656	C	T	33956656	2	4	112	1	0	0	0	0	0	0	0	1	18239	639	23	1		1	ZSCAN20	1	33956656	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1760063	33956656	215293965	26	7521											
CSMD2	114784	genome.wustl.edu	37	chr1	34102131	34102131	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttcttgatggaaccaggatCaaaacatgactcccgcgggt	11	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34102131C>T	ENST00000373380.1	-	9	1637	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.D1600N			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1560	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAACCAGGATCAAAACATGAC	0.562																																																	0								ENSG00000121904						60	55	57					1																	34102131		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1417G>A	1.37:g.34102131C>T	ENSP00000362478:p.Asp473Asn	Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	51	51.43	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D1600N	ENST00000373380.1	37	c.4798		1	.	.	.	.	.	.	.	.	.	.	C	36	5.713353	0.96830	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65549	-0.16;-0.16	5.86	5.86	0.93980	Complement control module (2);Sushi/SCR/CCP (3);	0.055452	0.64402	D	0.000001	T	0.75539	0.3863	L	0.49571	1.57	0.80722	D	1	B;D;D	0.67145	0.384;0.996;0.988	B;D;D	0.70016	0.301;0.967;0.948	T	0.74506	-0.3643	10	0.52906	T	0.07	.	19.1595	0.93525	0.0:1.0:0.0:0.0	.	473;1560;1600	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	N	1600;473	ENSP00000362479:D1600N;ENSP00000362478:D473N	ENSP00000241312:D1560N	D	-	1	0	CSMD2	33874718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.776000	0.95493	0.491000	0.48974	GAT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.562	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	C	NM_052896	-		34102131	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34102131	C	T	34102131	3	4	112	1	0	0	0	0	1	0	0	0	3947	826	29	2	5945	2	CSMD2	1	34102131	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	145475	34102131	215148490	27	7522											
CSMD2	114784	genome.wustl.edu	37	chr1	34166166	34166166	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgttttcagcatcagtgatGaaatcaagccacagactgct	9	9	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34166166G>A	ENST00000373380.1	-	2	523	c.303C>T	c.(301-303)ttC>ttT	p.F101F	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.F1228F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1188	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCAGTGATGAAATCAAGCC	0.468																																																	0								ENSG00000121904						95	88	91					1																	34166166		2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.303C>T	1.37:g.34166166G>A		Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	63	24.10	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F1228	ENST00000373380.1	37	c.3684		1																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.468	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	G	NM_052896	-		34166166	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	1.000	A	A	34166166	G	A	34166166	2	1	112	1	0	0	0	0	0	0	0	1	3947	1281	45	2		2	CSMD2	1	34166166	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	64035	34166166	215084455	28	7523											
CSMD2	114784	genome.wustl.edu	37	chr1	34276407	34276407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttgtcatactgaatgggGaaattgggggaggtgatgat	16	2	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34276407G>A	ENST00000338325.1	-	3	466	c.54C>T	c.(52-54)ttC>ttT	p.F18F	CSMD2_ENST00000373381.4_Silent_p.F461F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	421						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAATGGGGAAATTGGGGG	0.547																																																	0								ENSG00000121904						123	121	122					1																	34276407		2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.54C>T	1.37:g.34276407G>A		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	63	23.17	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F461	ENST00000338325.1	37	c.1383		1																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.547	CSMD2-004	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000036404.2	G	NM_052896	-		34276407	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	1.000	A	A	34276407	G	A	34276407	2	1	112	1	0	0	0	0	0	0	0	1	3947	1165	41	2		2	CSMD2	1	34276407	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	110241	34276407	214974214	29	7524											
C1orf94	84970	genome.wustl.edu	37	chr1	34684344	34684344	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctatttttcttccagtggGaatggcataaacttttagat	7	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34684344G>A	ENST00000488417.1	+	7	1899	c.1779G>A	c.(1777-1779)ggG>ggA	p.G593G	C1orf94_ENST00000373374.3_Silent_p.G403G	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	593										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTCCAGTGGGAATGGCATAA	0.502																																																	0								ENSG00000142698						135	130	131					1																	34684344		2203	4300	6503	C1orf94	SO:0001819	synonymous_variant	0			-	HGNC	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1779G>A	1.37:g.34684344G>A		Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	78	11.36	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP							NULL	p.G593	ENST00000488417.1	37	c.1779	CCDS44108.1	1																																																																																			-	NULL		0.502	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	protein_coding	OTTHUMT00000036845.2	G	NM_032884	-		34684344	1	no_errors	ENST00000488417	ensembl	human	known	74_37	silent	SNP	1.000	A	A	34684344	G	A	34684344	2	1	112	1	0	0	0	0	0	0	0	1	2073	1161	41	2		2	C1orf94	1	34684344	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	407937	34684344	214566277	30	7525											
WDR65	149465	genome.wustl.edu	37	chr1	43652450	43652450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgcctgtgcttcagcCcctcagaggaaactctggtt	9	13	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:43652450C>T	ENST00000372492.4	+	6	1366	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	WDR65_ENST00000528956.1_Missense_Mutation_p.P348S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		348										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCTTCAGCCCCTCAGAGGA	0.507																																																	0								ENSG00000243710						116	101	106					1																	43652450		2203	4300	6503	WDR65	SO:0001583	missense	0			-	HGNC																												ENST00000372492.4:c.1042C>T	1.37:g.43652450C>T	ENSP00000361570:p.Pro348Ser	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	36	50.67	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P348S	ENST00000372492.4	37	c.1042		1	.	.	.	.	.	.	.	.	.	.	C	34	5.351066	0.95830	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06849	4.54;3.25	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.72894	2.215	0.58432	D	0.999992	P;D	0.71674	0.866;0.998	P;D	0.72338	0.688;0.977	T	0.00549	-1.1676	10	0.59425	D	0.04	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	348;348	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	348	ENSP00000361570:P348S;ENSP00000435310:P348S	ENSP00000361570:P348S	P	+	1	0	WDR65	43425037	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.283000	0.78640	2.649000	0.89929	0.655000	0.94253	CCC	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.507	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	protein_coding	OTTHUMT00000384325.1	C		-		43652450	1	no_errors	ENST00000528956	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43652450	C	T	43652450	3	4	112	1	0	0	0	0	1	0	0	0	17323	623	22	2	1060	2	WDR65	1	43652450	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	8968106	43652450	205598171	31	7526											
TIE1	7075	genome.wustl.edu	37	chr1	43785016	43785016	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtttatgtgaagaagacGatggtgagtctcattcaacc	12	6	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:43785016G>A	ENST00000372476.3	+	18	3112	c.3033G>A	c.(3031-3033)acG>acA	p.T1011T	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.T656T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1011	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAAGACGATGGTGAGTC	0.587																																																	0								ENSG00000066056						104	95	98					1																	43785016		2203	4300	6503	TIE1	SO:0001819	synonymous_variant	0			-	HGNC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3033G>A	1.37:g.43785016G>A		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	19	48.65	B5A949|B5A950	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1011	ENST00000372476.3	37	c.3033	CCDS482.1	1																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	protein_coding	OTTHUMT00000019011.1	G	NM_005424	-		43785016	1	no_errors	ENST00000372476	ensembl	human	known	74_37	silent	SNP	0.004	A	A	43785016	G	A	43785016	2	1	112	1	0	0	0	0	0	0	0	1	15900	1045	37	1		1	TIE1	1	43785016	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	132566	43785016	205465605	32	7527											
PTPRF	5792	genome.wustl.edu	37	chr1	44057050	44057050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataccgcgtctactatactCcggactcccgccgccccccg	8	20	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:44057050C>T	ENST00000359947.4	+	9	1697	c.1357C>T	c.(1357-1359)Ccg>Tcg	p.P453S	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Missense_Mutation_p.P453S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P453S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P453S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTACTATACTCCGGACTCCCG	0.687																																																	0								ENSG00000142949						10	10	10					1																	44057050		2137	4200	6337	PTPRF	SO:0001583	missense	0			-	HGNC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1357C>T	1.37:g.44057050C>T	ENSP00000353030:p.Pro453Ser	Somatic	0	14	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.P453S	ENST00000359947.4	37	c.1357	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.753|4.753	0.140038|0.140038	0.09083|0.09083	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	5.62|5.62	4.65|4.65	0.58169|0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.34002|.	N|.	0.004356|.	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.02345|0.02345	-0.59|-0.59	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28350|.	0.001;0.208;0.003|.	B;B;B|.	0.27887|.	0.006;0.084;0.01|.	T|T	0.16689|0.16689	-1.0394|-1.0394	10|5	0.06494|.	T|.	0.89|.	.|.	12.224|12.224	0.54449|0.54449	0.3222:0.6778:0.0:0.0|0.3222:0.6778:0.0:0.0	.|.	109;453;453|.	Q59FI2;P10586-2;P10586|.	.;.;PTPRF_HUMAN|.	S|F	453|120	ENSP00000353030:P453S;ENSP00000398822:P453S;ENSP00000361491:P453S;ENSP00000361490:P453S|.	ENSP00000353030:P453S|.	P|S	+|+	1|2	0|0	PTPRF|PTPRF	43829637|43829637	0.003000|0.003000	0.15002|0.15002	0.578000|0.578000	0.28575|0.28575	0.543000|0.543000	0.35085|0.35085	1.576000|1.576000	0.36504|0.36504	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CCG|TCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	protein_coding	OTTHUMT00000019710.1	C		-		44057050	1	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	SNP	0.802	T	T	44057050	C	T	44057050	3	4	112	1	0	0	0	0	1	0	0	0	12809	855	30	2	1383	2	PTPRF	1	44057050	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	272034	44057050	205193571	33	7528											
GPBP1L1	60313	genome.wustl.edu	37	chr1	46094016	46094016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaagtgcttctccaaGgggagaacagactggaactg	12	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:46094016G>A	ENST00000290795.3	-	12	2558	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.P446L			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	446					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GCTTCTCCAAGGGGAGAACAG	0.453																																																	0								ENSG00000159592						135	130	132					1																	46094016		2203	4300	6503	GPBP1L1	SO:0001583	missense	0			-	HGNC		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1337C>T	1.37:g.46094016G>A	ENSP00000290795:p.Pro446Leu	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	D3DQ10|Q9H751	Missense_Mutation	SNP							NULL	p.P446L	ENST00000290795.3	37	c.1337	CCDS528.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611442	0.66558	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.47869	0.83;0.83	6.02	6.02	0.97574	.	0.111909	0.64402	D	0.000009	T	0.50240	0.1604	L	0.52573	1.65	0.49582	D	0.9998	P	0.40515	0.719	B	0.44085	0.44	T	0.51442	-0.8705	10	0.72032	D	0.01	-4.2987	15.1526	0.72713	0.0:0.0:0.8262:0.1738	.	446	Q9HC44	GPBL1_HUMAN	L	446	ENSP00000290795:P446L;ENSP00000347224:P446L	ENSP00000290795:P446L	P	-	2	0	GPBP1L1	45866603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.122000	0.71608	2.865000	0.98341	0.655000	0.94253	CCT	-	NULL		0.453	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	protein_coding	OTTHUMT00000098375.1	G	NM_021639	-		46094016	-1	no_errors	ENST00000290795	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46094016	G	A	46094016	3	1	112	1	0	0	0	0	1	0	0	0	6598	1000	35	2	91	2	GPBP1L1	1	46094016	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2036966	46094016	203156605	34	7529											
FAF1	11124	genome.wustl.edu	37	chr1	50941264	50941264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaagaactcgccactggGggtccggatccgcagtttgc	12	14	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:50941264G>A	ENST00000396153.2	-	18	2192	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	FAF1_ENST00000371778.4_Missense_Mutation_p.P581S|FAF1_ENST00000545823.1_Missense_Mutation_p.P339S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	581	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCGCCACTGGGGGTCCGGATC	0.537																																																	0								ENSG00000185104						56	59	58					1																	50941264		2203	4300	6503	FAF1	SO:0001583	missense	0			-	HGNC	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1741C>T	1.37:g.50941264G>A	ENSP00000379457:p.Pro581Ser	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP							pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.P581S	ENST00000396153.2	37	c.1741	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036089	0.93630	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.51	5.51	0.81932	UBX (3);	0.000000	0.85682	D	0.000000	D	0.85470	0.5704	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87706	0.2563	9	0.72032	D	0.01	-17.0453	19.4205	0.94720	0.0:0.0:1.0:0.0	.	339;581	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	S	581;581;339;421;429	.	ENSP00000360843:P581S	P	-	1	0	FAF1	50713852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.399000	0.97285	2.575000	0.86900	0.655000	0.94253	CCC	-	pfam_UBX,smart_UBX,pfscan_UBX		0.537	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	protein_coding	OTTHUMT00000021807.1	G	NM_007051	-		50941264	-1	no_errors	ENST00000371778	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50941264	G	A	50941264	3	1	112	1	0	0	0	0	1	0	0	0	5371	1232	43	2	219	2	FAF1	1	50941264	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4847248	50941264	198309357	35	7530											
PRKAA2	5563	genome.wustl.edu	37	chr1	57169696	57169696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacttatttcctgaagacCcttcctatgatgctaacgtc	6	11	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57169696C>T	ENST00000371244.4	+	7	907	c.841C>T	c.(841-843)Cct>Tct	p.P281S		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	281					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)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCCTGAAGACCCTTCCTATGA	0.358																																																	0								ENSG00000162409						162	162	162					1																	57169696		2203	4300	6503	PRKAA2	SO:0001583	missense	0			-	HGNC	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.841C>T	1.37:g.57169696C>T	ENSP00000360290:p.Pro281Ser	Somatic	0	92	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	50	46.24	Q9H1E8|Q9UD43	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P281S	ENST00000371244.4	37	c.841	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817547	0.32145	.	.	ENSG00000162409	ENST00000371244	T	0.72505	-0.66	5.91	5.91	0.95273	Protein kinase-like domain (1);	0.046506	0.85682	D	0.000000	T	0.66528	0.2798	L	0.50333	1.59	0.80722	D	1	B	0.20887	0.049	B	0.17098	0.017	T	0.61412	-0.7068	10	0.12766	T	0.61	-14.3301	20.2963	0.98556	0.0:1.0:0.0:0.0	.	281	P54646	AAPK2_HUMAN	S	281	ENSP00000360290:P281S	ENSP00000360290:P281S	P	+	1	0	PRKAA2	56942284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.765000	0.68834	2.813000	0.96785	0.655000	0.94253	CCT	-	superfamily_Kinase-like_dom		0.358	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	C	NM_006252	-		57169696	1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57169696	C	T	57169696	3	4	112	1	0	0	0	0	1	0	0	0	12499	623	22	2	867	2	PRKAA2	1	57169696	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6228432	57169696	192080925	36	7531			1	66		3	3	408	N	G_C	8.977313e-05
PRKAA2	5563	genome.wustl.edu	37	chr1	57169747	57169747	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctgtgaaagaagtgtgtGaaaaatttgaatgtacagaa	12	2	0	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57169747G>A	ENST00000371244.4	+	7	958	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	298	AIS. {ECO:0000250}.				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)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGAAGTGTGTGAAAAATTTGA	0.383																																																	0								ENSG00000162409						173	168	170					1																	57169747		2203	4300	6503	PRKAA2	SO:0001583	missense	0			-	HGNC	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.892G>A	1.37:g.57169747G>A	ENSP00000360290:p.Glu298Lys	Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	59	25.32	Q9H1E8|Q9UD43	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E298K	ENST00000371244.4	37	c.892	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782676	0.70222	.	.	ENSG00000162409	ENST00000371244	T	0.72615	-0.67	5.91	5.91	0.95273	.	0.093581	0.64402	D	0.000001	T	0.68430	0.3000	L	0.52206	1.635	0.80722	D	1	B	0.24882	0.113	B	0.21546	0.035	T	0.62044	-0.6937	10	0.35671	T	0.21	-26.2057	20.2963	0.98556	0.0:0.0:1.0:0.0	.	298	P54646	AAPK2_HUMAN	K	298	ENSP00000360290:E298K	ENSP00000360290:E298K	E	+	1	0	PRKAA2	56942335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	GAA	-	NULL		0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	G	NM_006252	-		57169747	1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57169747	G	A	57169747	3	1	112	1	0	0	0	0	1	0	0	0	12499	1291	45	2	918	2	PRKAA2	1	57169747	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	51	57169747	192080874	37	7532			1	66		3	3	408	N	G_C	8.977313e-05
PRKAA2	5563	genome.wustl.edu	37	chr1	57170103	57170103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaccgtatgacattatGgctgaagtttaccgagctat	9	8	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57170103G>A	ENST00000371244.4	+	7	1314	c.1248G>A	c.(1246-1248)atG>atA	p.M416I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	416					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)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATGACATTATGGCTGAAGTTT	0.373																																																	0								ENSG00000162409						91	94	93					1																	57170103		2203	4300	6503	PRKAA2	SO:0001583	missense	0			-	HGNC	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.1248G>A	1.37:g.57170103G>A	ENSP00000360290:p.Met416Ile	Somatic	0	91	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	56	44.55	Q9H1E8|Q9UD43	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M416I	ENST00000371244.4	37	c.1248	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.056035	0.93793	.	.	ENSG00000162409	ENST00000371244	D	0.81908	-1.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93412	0.6769	10	0.62326	D	0.03	-28.3296	20.8794	0.99867	0.0:0.0:1.0:0.0	.	416	P54646	AAPK2_HUMAN	I	416	ENSP00000360290:M416I	ENSP00000360290:M416I	M	+	3	0	PRKAA2	56942691	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ATG	-	superfamily_KA1/Ssp2_C		0.373	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	G	NM_006252	-		57170103	1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57170103	G	A	57170103	3	1	112	1	0	0	0	0	1	0	0	0	12499	1348	47	2	1274	2	PRKAA2	1	57170103	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	356	57170103	192080518	38	7533			1	66		3	3	408	N	G_C	8.977313e-05
DAB1	1600	genome.wustl.edu	37	chr1	57480902	57480902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataacagtttgtgtgggcatGaaggcggctggcggaaactg	16	6	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57480902G>A	ENST00000371231.1	-	13	1231	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	DAB1_ENST00000371236.2_Silent_p.F366F|DAB1_ENST00000439789.2_Silent_p.F280F|DAB1_ENST00000414851.2_Silent_p.F348F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.F366F|DAB1_ENST00000420954.2_Silent_p.F364F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	399					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGTGGGCATGAAGGCGGCTG	0.647																																																	0								ENSG00000173406						82	72	75					1																	57480902		2203	4300	6503	DAB1	SO:0001819	synonymous_variant	0			-	HGNC	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1197C>T	1.37:g.57480902G>A		Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	50	26.09	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.F399	ENST00000371231.1	37	c.1197		1																																																																																			-	NULL		0.647	DAB1-010	KNOWN	basic	protein_coding	DAB1	protein_coding	OTTHUMT00000027962.1	G	NM_021080	-		57480902	-1	no_errors	ENST00000371231	ensembl	human	known	74_37	silent	SNP	1.000	A	A	57480902	G	A	57480902	2	1	112	1	0	0	0	0	0	0	0	1	4219	1281	45	2		2	DAB1	1	57480902	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	310799	57480902	191769719	39	7534											
C1orf87	127795	genome.wustl.edu	37	chr1	60505853	60505853	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggctctggccaatatcCtaacacaacaatgaaaaaca	6	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:60505853C>T	ENST00000371201.3	-	5	591		c.e5-1		C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87								calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAATATCCTAACACAACA	0.468																																					NSCLC(75;811 1386 4923 13371 51772)												0								ENSG00000162598						63	67	66					1																	60505853		2203	4300	6503	C1orf87	SO:0001630	splice_region_variant	0			-	HGNC	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.484-1G>A	1.37:g.60505853C>T		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61	Q6ZU07|Q8IVS0	Splice_Site	SNP							-	e4-1	ENST00000371201.3	37	c.484-1	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385428	0.25031	.	.	ENSG00000162598	ENST00000371201	.	.	.	4.44	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.28041	N	0.933754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3437	0.55109	0.0:0.8287:0.1713:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf87	60278441	0.357000	0.24938	0.091000	0.20842	0.068000	0.16541	1.636000	0.37144	1.450000	0.47717	0.650000	0.86243	.	-	-		0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	protein_coding	OTTHUMT00000024943.1	C	NM_152377	-	Intron	60505853	-1	no_errors	ENST00000371201	ensembl	human	known	74_37	splice_site	SNP	0.126	T	T	60505853	C	T	60505853	5	4	112	1	0	0	0	0	0	0	1	0	2066	695	24	2	1189	2	C1orf87	1	60505853	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3024951	60505853	188744768	40	7535											
LRRC7	57554	genome.wustl.edu	37	chr1	70486803	70486803	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagatgacgaaaatgctggGaaagttaaggtgaacctttt	12	4	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:70486803G>A	ENST00000035383.5	+	14	1452	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	LRRC7_ENST00000310961.5_Silent_p.G479G|LRRC7_ENST00000415775.2_Missense_Mutation_p.G6E|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	474						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAATGCTGGGAAAGTTAAGG	0.383																																																	0								ENSG00000033122						92	85	88					1																	70486803		2203	4300	6503	LRRC7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1422G>A	1.37:g.70486803G>A		Somatic	0	209	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	104	46.39	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G6E	ENST00000035383.5	37	c.17	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132922	0.56828	.	.	ENSG00000033122	ENST00000415775	T	0.16073	2.37	5.93	1.49	0.22878	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	.	.	.	0.23802	N	0.996806	B	0.06786	0.001	B	0.09377	0.004	T	0.33497	-0.9866	9	0.87932	D	0	.	5.8317	0.18584	0.2986:0.2212:0.4803:0.0	.	6	F8WE45	.	E	6	ENSP00000394867:G6E	ENSP00000394867:G6E	G	+	2	0	LRRC7	70259391	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	0.933000	0.28897	0.825000	0.34637	0.655000	0.94253	GGA	-	NULL		0.383	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	G	NM_020794	-		70486803	1	no_errors	ENST00000415775	ensembl	human	known	74_37	missense	SNP	0.992	A	A	70486803	G	A	70486803	2	1	112	1	0	0	0	0	0	0	0	1	9022	1161	41	2		2	LRRC7	1	70486803	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	9980950	70486803	178763818	41	7536											
LRRC7	57554	genome.wustl.edu	37	chr1	70488809	70488809	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagattccttctcccacagGatctctcctgccaagccccc	7	18	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:70488809G>A	ENST00000035383.5	+	15	1462	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	LRRC7_ENST00000310961.5_Splice_Site_p.D483N|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	478						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTCCCACAGGATCTCTCCTG	0.502																																																	0								ENSG00000033122						43	42	42					1																	70488809		2203	4300	6503	LRRC7	SO:0001630	splice_region_variant	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1432-1G>A	1.37:g.70488809G>A		Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	26	49.02	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D478N	ENST00000035383.5	37	c.1432	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309970	0.23821	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37058	1.22;1.29	5.55	5.55	0.83447	.	0.504333	0.21672	N	0.070854	T	0.09512	0.0234	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14090	-1.0485	9	.	.	.	.	15.0088	0.71533	0.0:0.0:1.0:0.0	.	478	Q96NW7	LRRC7_HUMAN	N	483;478;301	ENSP00000309245:D483N;ENSP00000035383:D478N	.	D	+	1	0	LRRC7	70261397	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.453000	0.60061	2.618000	0.88619	0.467000	0.42956	GAT	-	NULL		0.502	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	G	NM_020794	-	Missense_Mutation	70488809	1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70488809	G	A	70488809	5	1	112	1	0	0	0	0	0	0	1	0	9022	1188	41	2	1490	2	LRRC7	1	70488809	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2006	70488809	178761812	42	7537											
SFRS11	9295	genome.wustl.edu	37	chr1	70705161	70705161	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggcattcaagatcaagatCacgttctaggaggaggagga	13	6	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:70705161C>T	ENST00000370950.3	+	8	840	c.758C>T	c.(757-759)tCa>tTa	p.S253L	SRSF11_ENST00000370951.1_Missense_Mutation_p.S253L|SRSF11_ENST00000405432.1_Missense_Mutation_p.S253L|SRSF11_ENST00000370949.1_Missense_Mutation_p.S193L|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	253	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						AGATCAAGATCACGTTCTAGG	0.348																																																	0								ENSG00000116754						124	129	127					1																	70705161		2203	4300	6503	SRSF11	SO:0001583	missense	0			-	HGNC	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.758C>T	1.37:g.70705161C>T	ENSP00000359988:p.Ser253Leu	Somatic	0	92	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	48	55.14	Q5T758|Q8IWE6	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S253L	ENST00000370950.3	37	c.758	CCDS647.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073291	0.76415	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.84730	-1.89;-1.89;-1.89;1.91;1.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.63880	0.989;0.993;0.993;0.981	D;D;D;D	0.75020	0.985;0.977;0.977;0.966	D	0.93188	0.6580	10	0.66056	D	0.02	.	19.3105	0.94186	0.0:1.0:0.0:0.0	.	193;253;253;253	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	L	253;253;253;253;193	ENSP00000359989:S253L;ENSP00000359988:S253L;ENSP00000384357:S253L;ENSP00000378568:S253L;ENSP00000359987:S193L	ENSP00000359987:S193L	S	+	2	0	SRSF11	70477749	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.157000	0.77461	2.664000	0.90586	0.655000	0.94253	TCA	-	NULL		0.348	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	protein_coding	OTTHUMT00000025889.1	C	NM_004768	-		70705161	1	no_errors	ENST00000370950	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70705161	C	T	70705161	3	4	112	1	0	0	0	0	1	0	0	0	14174	838	29	2	784	2	SFRS11	1	70705161	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	216352	70705161	178545460	43	7538											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74507223	74507223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttttgtgtagcatatttTttctgattcaaatgttcatt	6	4	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:74507223T>A	ENST00000395089.1	-	6	1391	c.1392A>T	c.(1390-1392)aaA>aaT	p.K464N	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.K464N			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	464										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGCATATTTTTTCTGATTCA	0.333																																																	0								ENSG00000162620						160	147	151					1																	74507223		1818	4078	5896	LRRIQ3	SO:0001583	missense	0			-	HGNC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1392A>T	1.37:g.74507223T>A	ENSP00000378524:p.Lys464Asn	Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP							pfscan_IQ_motif_EF-hand-BS	p.K464N	ENST00000395089.1	37	c.1392	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282048	0.40394	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.18502	2.21;2.21	5.77	4.62	0.57501	.	0.000000	0.49305	D	0.000151	T	0.14787	0.0357	L	0.34521	1.04	0.28245	N	0.925503	D	0.76494	0.999	D	0.68765	0.96	T	0.05241	-1.0897	10	0.87932	D	0	.	9.1009	0.36667	0.0:0.0843:0.0:0.9157	.	464	A6PVS8	LRIQ3_HUMAN	N	464	ENSP00000378524:K464N;ENSP00000346414:K464N	ENSP00000346414:K464N	K	-	3	2	LRRIQ3	74279811	0.997000	0.39634	0.554000	0.28268	0.006000	0.05464	0.712000	0.25779	1.076000	0.40961	0.477000	0.44152	AAA	-	NULL		0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	protein_coding	OTTHUMT00000316539.1	T	NM_145258	-		74507223	-1	no_errors	ENST00000354431	ensembl	human	known	74_37	missense	SNP	0.840	A	A	74507223	T	A	74507223	3	1	112	1	0	0	0	0	1	0	0	0	9032	1838	64	5	490	5	LRRIQ3	1	74507223	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	3802062	74507223	174743398	44	7539											
ARHGAP29	9411	genome.wustl.edu	37	chr1	94643582	94643582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtaatgagaaactctacCaagcgtgcttgatttgaata	8	6	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:94643582C>T	ENST00000260526.6	-	21	2804	c.2622G>A	c.(2620-2622)ttG>ttA	p.L874L	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	874	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAAACTCTACCAAGCGTGCTT	0.453																																																	0								ENSG00000137962						148	140	142					1																	94643582		2203	4300	6503	ARHGAP29	SO:0001819	synonymous_variant	0			-	HGNC		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2622G>A	1.37:g.94643582C>T		Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP							pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L874	ENST00000260526.6	37	c.2622	CCDS748.1	1																																																																																			-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.453	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	protein_coding	OTTHUMT00000029376.2	C	NM_004815	-		94643582	-1	no_errors	ENST00000260526	ensembl	human	known	74_37	silent	SNP	0.340	T	T	94643582	C	T	94643582	2	4	112	1	0	0	0	0	0	0	0	1	878	593	21	2		2	ARHGAP29	1	94643582	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	20136359	94643582	154607039	45	7540											
DPYD	1806	genome.wustl.edu	37	chr1	97548028	97548028	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttttcctattacatccTaaaaatagccactgaattac	4	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:97548028T>A	ENST00000370192.3	-	22	2867		c.e22-2			NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TATTACATCCTAAAAATAGCC	0.328																																																	0								ENSG00000188641						157	150	152					1																	97548028		2203	4299	6502	DPYD	SO:0001630	splice_region_variant	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2767-2A>T	1.37:g.97548028T>A		Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Splice_Site	SNP							-	e22-2	ENST00000370192.3	37	c.2767-2	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099707	0.37048	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1779	0.81874	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPYD	97320616	1.000000	0.71417	0.929000	0.37066	0.061000	0.15899	7.083000	0.76859	2.216000	0.71823	0.533000	0.62120	.	-	-		0.328	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	T	NM_000110	-	Intron	97548028	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	splice_site	SNP	0.995	A	A	97548028	T	A	97548028	5	1	112	1	0	0	0	0	0	0	1	0	4747	1536	53	5	320	5	DPYD	1	97548028	Splice_Site	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2904446	97548028	151702593	46	7541											
SNX7	51375	genome.wustl.edu	37	chr1	99157133	99157133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggaatggtggaacgcTttaacgatgacttcattgag	11	5	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:99157133T>C	ENST00000306121.3	+	4	526	c.517T>C	c.(517-519)Ttt>Ctt	p.F173L	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000370189.5_Missense_Mutation_p.F109L	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	109					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGTGGAACGCTTTAACGATGA	0.323																																																	0								ENSG00000162627						64	63	64					1																	99157133		2203	4300	6503	SNX7	SO:0001583	missense	0			-	HGNC	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.517T>C	1.37:g.99157133T>C	ENSP00000304429:p.Phe173Leu	Somatic	0	177	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	101	51.67	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP							pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F173L	ENST00000306121.3	37	c.517	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	T	35	5.419204	0.96092	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.35789	1.29;1.29	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.67953	2.075	0.80722	D	1	D;D	0.59767	0.981;0.986	P;P	0.56960	0.797;0.81	T	0.48768	-0.9006	10	0.66056	D	0.02	-28.2389	15.796	0.78409	0.0:0.0:0.0:1.0	.	173;109	Q9UNH6-3;Q9UNH6-2	.;.	L	109;173	ENSP00000359208:F109L;ENSP00000304429:F173L	ENSP00000304429:F173L	F	+	1	0	SNX7	98929721	1.000000	0.71417	0.944000	0.38274	0.857000	0.48899	8.039000	0.88947	2.144000	0.66660	0.528000	0.53228	TTT	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.323	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	protein_coding	OTTHUMT00000029609.2	T		-		99157133	1	no_errors	ENST00000306121	ensembl	human	known	74_37	missense	SNP	1.000	C	C	99157133	T	C	99157133	3	2	112	1	0	0	0	0	1	0	0	0	14915	1609	56	5	531	5	SNX7	1	99157133	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	1609105	99157133	150093488	47	7542											
AMY1A	278	genome.wustl.edu	37	chr1	104297431	104297431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagatattttgaaaatGgaaaagtaagttttggagtt	11	2	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:104297431G>A	ENST00000370079.3	+	7	1160	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	366					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTTGAAAATGGAAAAGTAAG	0.323																																																	0								ENSG00000187733						34	34	34					1																	104297431		2051	4115	6166	AMY1C	SO:0001583	missense	0			-	HGNC		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1096G>A	1.37:g.104297431G>A	ENSP00000359096:p.Gly366Arg	Somatic	0	171	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	154	13.97	A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP							pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.G366R	ENST00000370079.3	37	c.1096	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797710	0.31777	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	1.27	0.21489	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64170	1.965	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54410	-0.8298	7	0.87932	D	0	.	8.61	0.33797	0.1226:0.0:0.8774:0.0	.	.	.	.	R	366	.	ENSP00000359096:G366R	G	+	1	0	AMY1C	104098954	1.000000	0.71417	0.798000	0.32154	0.280000	0.26924	7.066000	0.76734	0.261000	0.21753	0.184000	0.17185	GGA	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.323	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	protein_coding	OTTHUMT00000030375.1	G	NM_001008219	-		104297431	1	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104297431	G	A	104297431	3	1	112	1	0	0	0	0	1	0	0	0	591	1349	47	2	4274	2	AMY1A	1	104297431	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5140298	104297431	144953190	48	7543											
AKNAD1	254268	genome.wustl.edu	37	chr1	109373193	109373193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaccattcaaggagcCtgcgacagaaggcacagctc	10	15	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109373193C>T	ENST00000370001.3	-	10	2094	c.1826G>A	c.(1825-1827)aGg>aAg	p.R609K	AKNAD1_ENST00000357393.4_Missense_Mutation_p.R316K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.R609K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R579K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	609						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCAAGGAGCCTGCGACAGAA	0.567																																																	0								ENSG00000162641						133	103	113					1																	109373193		2203	4300	6503	AKNAD1	SO:0001583	missense	0			-	HGNC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1826G>A	1.37:g.109373193C>T	ENSP00000359018:p.Arg609Lys	Somatic	0	25	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP							pfam_TF_AT-hook	p.R609K	ENST00000370001.3	37	c.1826	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867818	0.72065	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.05	-5.7	0.02421	.	0.560008	0.15089	N	0.281196	T	0.04318	0.0119	L	0.53249	1.67	0.09310	N	1	B;B	0.30914	0.3;0.3	B;B	0.26094	0.066;0.039	T	0.17745	-1.0359	10	0.44086	T	0.13	0.963	2.5464	0.04738	0.1247:0.272:0.1228:0.4806	.	316;609	B4DET8;Q5T1N1	.;AKND1_HUMAN	K	609;316;579;609	ENSP00000359018:R609K;ENSP00000349968:R316K;ENSP00000359011:R579K;ENSP00000359012:R609K	ENSP00000349968:R316K	R	-	2	0	AKNAD1	109174716	0.000000	0.05858	0.000000	0.03702	0.746000	0.42486	-0.374000	0.07484	-1.322000	0.02278	-0.291000	0.09656	AGG	-	NULL		0.567	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	protein_coding	OTTHUMT00000030923.2	C	NM_152763	-		109373193	-1	no_errors	ENST00000370001	ensembl	human	known	74_37	missense	SNP	0.000	T	T	109373193	C	T	109373193	3	4	112	1	0	0	0	0	1	0	0	0	464	681	24	2	712	2	AKNAD1	1	109373193	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5075762	109373193	139877428	49	7544											
CELSR2	1952	genome.wustl.edu	37	chr1	109801544	109801544	+	Silent	SNP	C	C	T													gtgctcttccggcccatccaCcccgtcggagggctgcgctg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109801544C>T	ENST00000271332.3	+	2	3862	c.3801C>T	c.(3799-3801)caC>caT	p.H1267H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1267	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCCCATCCACCCCGTCGGAG	0.706																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						28	27	27					1																	109801544		2201	4299	6500	CELSR2	SO:0001819	synonymous_variant	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3801C>T	1.37:g.109801544C>T		Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	23	51.06	Q5T2Y7|Q92566	Silent	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.H1267	ENST00000271332.3	37	c.3801	CCDS796.1	1																																																																																			-	smart_EG-like_dom,pfscan_EG-like_dom		0.706	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	C	NM_001408	-		109801544	1	no_errors	ENST00000271332	ensembl	human	known	74_37	silent	SNP	1.000	T	T	109801544	C	T	109801544	2	4	112	1	0	0	0	0	0	0	0	1	3224	506	18	2		2	CELSR2	1	109801544	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	428351	109801544	139449077	50	7545	108	2									
CELSR2	1952	genome.wustl.edu	37	chr1	109801545	109801545	+	Missense_Mutation	SNP	C	C	T													tgctcttccggcccatccacCccgtcggagggctgcgctgc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109801545C>T	ENST00000271332.3	+	2	3863	c.3802C>T	c.(3802-3804)Ccc>Tcc	p.P1268S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1268	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCCATCCACCCCGTCGGAGG	0.706																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						27	26	27					1																	109801545		2201	4299	6500	CELSR2	SO:0001583	missense	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3802C>T	1.37:g.109801545C>T	ENSP00000271332:p.Pro1268Ser	Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	23	50.00	Q5T2Y7|Q92566	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.P1268S	ENST00000271332.3	37	c.3802	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824414	0.71143	.	.	ENSG00000143126	ENST00000271332	T	0.52526	0.66	4.68	4.68	0.58851	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.43033	0.1229	M	0.76838	2.35	0.80722	D	1	P	0.41008	0.735	B	0.40636	0.335	T	0.46261	-0.9204	9	0.34782	T	0.22	.	17.7301	0.88375	0.0:1.0:0.0:0.0	.	1268	Q9HCU4	CELR2_HUMAN	S	1268	ENSP00000271332:P1268S	ENSP00000271332:P1268S	P	+	1	0	CELSR2	109603068	1.000000	0.71417	0.994000	0.49952	0.135000	0.20990	7.546000	0.82137	2.590000	0.87494	0.563000	0.77884	CCC	-	smart_EG-like_dom,pfscan_EG-like_dom		0.706	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	C	NM_001408	-		109801545	1	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109801545	C	T	109801545	3	4	112	1	0	0	0	0	1	0	0	0	3224	623	22	2	3808	2	CELSR2	1	109801545	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	109801545	139449076	51	7546	108	2									
CELSR2	1952	genome.wustl.edu	37	chr1	109812124	109812124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcttctgccccgggcCctggacaaacccgtcacggt	13	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109812124C>T	ENST00000271332.3	+	21	6952	c.6891C>T	c.(6889-6891)gcC>gcT	p.A2297A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2297					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCCCGGGCCCTGGACAAAC	0.597																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						70	65	67					1																	109812124		2203	4300	6503	CELSR2	SO:0001819	synonymous_variant	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6891C>T	1.37:g.109812124C>T		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	Q5T2Y7|Q92566	Silent	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A2297	ENST00000271332.3	37	c.6891	CCDS796.1	1																																																																																			-	NULL		0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	C	NM_001408	-		109812124	1	no_errors	ENST00000271332	ensembl	human	known	74_37	silent	SNP	0.396	T	T	109812124	C	T	109812124	2	4	112	1	0	0	0	0	0	0	0	1	3224	610	22	2		2	CELSR2	1	109812124	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10579	109812124	139438497	52	7547											
MOV10	4343	genome.wustl.edu	37	chr1	113238120	113238120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactctgtcaaaggctccGggtccaccttcctagctcca	7	17	2	0	rs372683047		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:113238120G>A	ENST00000413052.2	+	11	2093	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R568Q|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.R568Q|MOV10_ENST00000369644.1_Missense_Mutation_p.R512Q	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	568					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAAAGGCTCCGGGTCCACCTT	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		18430	0		0	False		,,,				2504	0																0								ENSG00000155363	G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	100	85	90		1703,1703	2.3	0.9	1		90	0,8600		0,0,4300	no	missense,missense	MOV10	NM_001130079.1,NM_020963.3	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	568/1004,568/1004	113238120	2,13004	2203	4300	6503	MOV10	SO:0001583	missense	0			-	HGNC	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1703G>A	1.37:g.113238120G>A	ENSP00000399797:p.Arg568Gln	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.R568Q	ENST00000413052.2	37	c.1703	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472668	0.43942	4.54E-4	0.0	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.35	2.27	0.28462	.	0.445187	0.23513	N	0.047375	T	0.52224	0.1721	N	0.22421	0.69	0.80722	D	1	B;P	0.43578	0.081;0.811	B;B	0.41666	0.104;0.363	T	0.50617	-0.8807	10	0.13853	T	0.58	-5.3058	6.8178	0.23841	0.0849:0.0:0.4287:0.4864	.	512;568	Q5JR04;Q9HCE1	.;MOV10_HUMAN	Q	568;568;512;568;506	ENSP00000399797:R568Q;ENSP00000358659:R568Q;ENSP00000358658:R512Q;ENSP00000350028:R568Q	ENSP00000350028:R568Q	R	+	2	0	MOV10	113039643	0.427000	0.25514	0.945000	0.38365	0.984000	0.73092	1.592000	0.36676	0.621000	0.30232	0.655000	0.94253	CGG	-	superfamily_P-loop_NTPase		0.592	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	protein_coding	OTTHUMT00000032906.1	G	NM_020963	-		113238120	1	no_errors	ENST00000357443	ensembl	human	known	74_37	missense	SNP	0.819	A	A	113238120	G	A	113238120	3	1	112	1	0	0	0	0	1	0	0	0	9720	1116	39	1	1741	1	MOV10	1	113238120	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3425996	113238120	136012501	53	7548											
NRAS	4893	genome.wustl.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		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)																														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)						ENSG00000213281						180	156	164					1																	115256529		2203	4300	6503	NRAS	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	-	HGNC	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>T	1.37:g.115256529T>A	ENSP00000358548:p.Gln61Leu	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	59	48.70	Q14971|Q15104|Q15282	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61L	ENST00000369535.4	37	c.182	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844732	0.91197	.	.	ENSG00000213281	ENST00000369535	D	0.83992	-1.79	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.92446	0.7602	H	0.96748	3.875	0.80722	D	1	D	0.55800	0.973	P	0.61533	0.89	D	0.94664	0.7851	10	0.72032	D	0.01	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	61	P01111	RASN_HUMAN	L	61	ENSP00000358548:Q61L	ENSP00000358548:Q61L	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	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	T	NM_002524	rs11554290		115256529	-1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115256529	T	A	115256529	3	1	112	1	0	0	0	0	1	0	0	0	10642	1812	63	5	399	5	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2018409	115256529	133994092	54	7549											
TARS2	80222	genome.wustl.edu	37	chr1	150463910	150463910	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgttttggagcggattTgccaggaacttacagctgct	12	9	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:150463910T>A	ENST00000369064.3	+	5	587	c.553T>A	c.(553-555)Tgc>Agc	p.C185S	TARS2_ENST00000606933.1_Missense_Mutation_p.C185S|TARS2_ENST00000369054.2_Missense_Mutation_p.C185S|TARS2_ENST00000438568.2_Nonsense_Mutation_p.L143*	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	185					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGAGCGGATTTGCCAGGAACT	0.567																																																	0								ENSG00000143374						103	98	100					1																	150463910		2203	4300	6503	TARS2	SO:0001583	missense	0			-	HGNC	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.553T>A	1.37:g.150463910T>A	ENSP00000358060:p.Cys185Ser	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	19	62.75	Q53GW7|Q96I50|Q9H9V2	Nonsense_Mutation	SNP							pfam_TGS,superfamily_TGS-like	p.L143*	ENST00000369064.3	37	c.428	CCDS952.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.860864|4.860864	0.91433|0.91433	.|.	.|.	ENSG00000143374|ENSG00000143374	ENST00000369054;ENST00000369064|ENST00000438568	T;T|.	0.06218|.	3.33;3.33|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.47229|.	0.1434|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	A|A	1|1	D;P|.	0.76494|.	0.999;0.577|.	D;B|.	0.80764|.	0.994;0.2|.	T|.	0.55379|.	-0.8150|.	9|.	0.22109|0.59425	T|D	0.4|0.04	-17.5991|-17.5991	11.6663|11.6663	0.51376|0.51376	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	185;185|.	Q9H9V2;Q9BW92|.	.;SYTM_HUMAN|.	S|X	185|143	ENSP00000358050:C185S;ENSP00000358060:C185S|.	ENSP00000358050:C185S|ENSP00000415002:L143X	C|L	+|+	1|2	0|0	TARS2|TARS2	148730534|148730534	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.810000|0.810000	0.45777|0.45777	4.209000|4.209000	0.58493|0.58493	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	TGC|TTG	-	NULL		0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	protein_coding	OTTHUMT00000035847.1	T	NM_025150	-		150463910	1	no_errors	ENST00000438568	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	150463910	T	A	150463910	3	1	112	1	0	0	0	0	1	0	0	0	15567	1812	63	5	571	5	TARS2	1	150463910	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	35207381	150463910	98786711	55	7550											
FLG2	388698	genome.wustl.edu	37	chr1	152324936	152324936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggcatgtctggtggtatCgcctgtctgtccatgtatag	14	8	2	0	rs555660257		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:152324936C>T	ENST00000388718.5	-	3	5398	c.5326G>A	c.(5326-5328)Gat>Aat	p.D1776N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1776					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D1776N(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGGTATCGCCTGTCTGT	0.507													C|||	1	0.000199681	0	0.0014	5008	,	,		28455	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	lung(1)|skin(1)						ENSG00000143520						345	286	306					1																	152324936		2203	4300	6503	FLG2	SO:0001583	missense	0			-	HGNC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5326G>A	1.37:g.152324936C>T	ENSP00000373370:p.Asp1776Asn	Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	34	33.96	Q9H4U1	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D1776N	ENST00000388718.5	37	c.5326	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192716	0.38707	.	.	ENSG00000143520	ENST00000388718	T	0.09817	2.94	3.96	3.96	0.45880	.	.	.	.	.	T	0.15609	0.0376	M	0.72353	2.195	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.10989	-1.0606	9	0.15952	T	0.53	-6.2375	11.7404	0.51790	0.0:1.0:0.0:0.0	.	1776	Q5D862	FILA2_HUMAN	N	1776	ENSP00000373370:D1776N	ENSP00000373370:D1776N	D	-	1	0	FLG2	150591560	0.035000	0.19736	0.025000	0.17156	0.018000	0.09664	1.236000	0.32683	2.229000	0.72834	0.196000	0.17591	GAT	-	NULL		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	C	NM_001014342	-		152324936	-1	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	SNP	0.152	T	T	152324936	C	T	152324936	3	4	112	1	0	0	0	0	1	0	0	0	5925	884	31	1	1853	1	FLG2	1	152324936	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1861026	152324936	96925685	56	7551											
KPRP	448834	genome.wustl.edu	37	chr1	152733505	152733505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaccagagccaattcccCtgccggcgccctgcccaagc	9	20	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:152733505C>T	ENST00000606109.1	+	1	1469	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	KPRP_ENST00000368773.1_Silent_p.L481L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	481	Pro-rich.					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)			GCCAATTCCCCTGCCGGCGCC	0.662																																																	0								ENSG00000203786						67	73	71					1																	152733505		2203	4300	6503	KPRP	SO:0001819	synonymous_variant	0			-	HGNC	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.1441C>T	1.37:g.152733505C>T		Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43		Silent	SNP							NULL	p.L481	ENST00000606109.1	37	c.1441	CCDS30862.1	1																																																																																			-	NULL		0.662	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	C	NM_001025231	-		152733505	1	no_errors	ENST00000368773	ensembl	human	known	74_37	silent	SNP	0.000	T	T	152733505	C	T	152733505	2	4	112	1	0	0	0	0	0	0	0	1	8438	680	24	2		2	KPRP	1	152733505	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	408569	152733505	96517116	57	7552											
IVL	3713	genome.wustl.edu	37	chr1	152883368	152883368	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaagggcagctggggctCccagagcagcaggtgctgca	17	11	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:152883368C>T	ENST00000368764.3	+	2	1159	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	IVL_ENST00000392667.2_Silent_p.L219L			P07476	INVO_HUMAN	involucrin	365	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcTGGGGCTCCCAGagcagc	0.657																																																	0								ENSG00000163207						13	13	13					1																	152883368		2057	4048	6105	IVL	SO:0001819	synonymous_variant	0			-	HGNC	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1095C>T	1.37:g.152883368C>T		Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	Q5T7P4	Silent	SNP							pfam_Involucrin_N,pfam_Involucrin_rpt	p.L365	ENST00000368764.3	37	c.1095	CCDS1030.1	1																																																																																			-	NULL		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	protein_coding	OTTHUMT00000034664.1	C	NM_005547	-		152883368	1	no_errors	ENST00000368764	ensembl	human	known	74_37	silent	SNP	0.000	T	T	152883368	C	T	152883368	2	4	112	1	0	0	0	0	0	0	0	1	7931	842	30	2		2	IVL	1	152883368	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	149863	152883368	96367253	58	7553											
ADAR	103	genome.wustl.edu	37	chr1	154562360	154562360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgttgaagcaccggtggctCagcatggctatctggtcatg	14	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:154562360C>T	ENST00000368474.4	-	8	2740	c.2541G>A	c.(2539-2541)ctG>ctA	p.L847L	ADAR_ENST00000368471.3_Silent_p.L552L|ADAR_ENST00000292205.5_Silent_p.L890L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	847					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACCGGTGGCTCAGCATGGCTA	0.542																																																	0								ENSG00000160710						64	52	56					1																	154562360		2203	4300	6503	ADAR	SO:0001819	synonymous_variant	0			-	HGNC	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2541G>A	1.37:g.154562360C>T		Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP							pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.L890	ENST00000368474.4	37	c.2670	CCDS1071.1	1																																																																																			-	smart_A_deamin		0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	protein_coding	OTTHUMT00000090691.2	C	NM_001111	-		154562360	-1	no_errors	ENST00000292205	ensembl	human	known	74_37	silent	SNP	1.000	T	T	154562360	C	T	154562360	2	4	112	1	0	0	0	0	0	0	0	1	281	813	29	2		2	ADAR	1	154562360	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1678992	154562360	94688261	59	7554											
GPATCH4	54865	genome.wustl.edu	37	chr1	156568021	156568021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctatcaagagctcatacctGcccagtttccactaccaagt	5	14	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:156568021G>T	ENST00000438976.2	-	4	289	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Missense_Mutation_p.Q82K|GPATCH4_ENST00000334588.7_Missense_Mutation_p.Q36K			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	82							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCATACCTGCCCAGTTTCC	0.522																																																	0								ENSG00000160818						262	257	259					1																	156568021		2203	4300	6503	GPATCH4	SO:0001583	missense	0			-	HGNC	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.259C>A	1.37:g.156568021G>T	ENSP00000396441:p.Gln87Lys	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP							pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.Q87K	ENST00000438976.2	37	c.259	CCDS44245.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786893	0.31593	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314;ENST00000334588	.	.	.	5.14	0.48	0.16804	.	0.239060	0.43579	N	0.000555	T	0.27027	0.0662	L	0.37697	1.125	0.43160	D	0.994942	B;B	0.23540	0.087;0.013	B;B	0.17433	0.018;0.009	T	0.16247	-1.0409	9	0.54805	T	0.06	-12.5549	10.3987	0.44216	0.0:0.1094:0.5081:0.3825	.	87;82	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	K	82;82;87;82;36	.	ENSP00000334793:Q36K	Q	-	1	0	GPATCH4	154834645	0.843000	0.29541	0.432000	0.26747	0.916000	0.54674	0.950000	0.29122	0.261000	0.21753	0.655000	0.94253	CAG	-	NULL		0.522	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	protein_coding	OTTHUMT00000386947.1	G	NM_017725	-		156568021	-1	no_errors	ENST00000438976	ensembl	human	known	74_37	missense	SNP	0.493	T	T	156568021	G	T	156568021	3	4	112	1	0	0	0	0	1	0	0	0	6595	1328	46	3	888	3	GPATCH4	1	156568021	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2005661	156568021	92682600	60	7555											
NTRK1	4914	genome.wustl.edu	37	chr1	156846306	156846306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgtctgcaccgagggcCgccccctgctcatggtcttt	12	16	3	0	rs371344688		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:156846306C>T	ENST00000524377.1	+	14	1788	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R547C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R580C|NTRK1_ENST00000368196.3_Missense_Mutation_p.R577C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R583G(1)|p.R547G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CACCGAGGGCCGCCCCCTGCT	0.667			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	2	Substitution - Missense(2)	skin(2)						ENSG00000198400	C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	37	34	35		1639,1729,1747	4.3	1	1		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	547/761,577/791,583/797	156846306	1,13005	2203	4300	6503	NTRK1	SO:0001583	missense	0			-	HGNC	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1747C>T	1.37:g.156846306C>T	ENSP00000431418:p.Arg583Cys	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R583C	ENST00000524377.1	37	c.1747	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441855	0.83993	0.0	1.16E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.27	4.34	0.51931	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.353696	0.24937	N	0.034413	D	0.89305	0.6677	L	0.52905	1.665	0.42190	D	0.991727	B;D;D;D	0.76494	0.054;0.958;0.996;0.999	B;P;P;P	0.60345	0.047;0.594;0.745;0.873	D	0.90647	0.4579	10	0.87932	D	0	.	13.1929	0.59722	0.0:0.5511:0.4489:0.0	.	580;577;583;547	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	547;577;583;580	ENSP00000376120:R547C;ENSP00000357179:R577C;ENSP00000431418:R583C;ENSP00000351486:R580C	ENSP00000351486:R580C	R	+	1	0	NTRK1	155112930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	1.418000	0.47098	0.561000	0.74099	CGC	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.667	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	protein_coding	OTTHUMT00000392279.1	C	NM_002529	-		156846306	1	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	SNP	1.000	T	T	156846306	C	T	156846306	3	4	112	1	0	0	0	0	1	0	0	0	10708	652	23	1	1931	1	NTRK1	1	156846306	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	278285	156846306	92404315	61	7556											
FCRL5	83416	genome.wustl.edu	37	chr1	157514756	157514756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttattaaggaatgccaGgacattatcattcttgtaaa	6	6	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:157514756G>A	ENST00000361835.3	-	4	581	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	FCRL5_ENST00000368190.3_Silent_p.L142L|FCRL5_ENST00000356953.4_Silent_p.L142L|FCRL5_ENST00000368191.3_Silent_p.L57L|FCRL5_ENST00000368189.3_Silent_p.L142L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	142					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGAATGCCAGGACATTATCA	0.423																																																	0								ENSG00000143297						140	133	136					1																	157514756		2203	4300	6503	FCRL5	SO:0001819	synonymous_variant	0			-	HGNC	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.424C>T	1.37:g.157514756G>A		Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	40	34.43	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L142	ENST00000361835.3	37	c.424	CCDS1165.1	1																																																																																			-	smart_Ig_sub,smart_Ig_sub2		0.423	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	protein_coding	OTTHUMT00000046263.1	G	NM_031281	-		157514756	-1	no_errors	ENST00000356953	ensembl	human	known	74_37	silent	SNP	0.003	A	A	157514756	G	A	157514756	2	1	112	1	0	0	0	0	0	0	0	1	5800	991	35	2		2	FCRL5	1	157514756	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	668450	157514756	91735865	62	7557											
FCRL3	115352	genome.wustl.edu	37	chr1	157667157	157667157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacaggtcagggtcatgGgactcccctctatgggcgtg	13	12	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:157667157G>A	ENST00000368184.3	-	6	908	c.617C>T	c.(616-618)cCc>cTc	p.P206L	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.P206L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	206	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAGGGTCATGGGACTCCCCTC	0.547																																																	0								ENSG00000160856						67	72	70					1																	157667157		2203	4300	6503	FCRL3	SO:0001583	missense	0			-	HGNC	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.617C>T	1.37:g.157667157G>A	ENSP00000357167:p.Pro206Leu	Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P206L	ENST00000368184.3	37	c.617	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440963	0.25900	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12774	2.65;2.65	5.54	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.463335	0.15960	N	0.236295	T	0.04543	0.0124	L	0.47016	1.485	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.17979	0.02;0.017	T	0.30765	-0.9967	10	0.36615	T	0.2	.	7.1279	0.25482	0.0869:0.0:0.7432:0.1699	.	206;206	Q96P31;Q96P31-6	FCRL3_HUMAN;.	L	206	ENSP00000357169:P206L;ENSP00000357167:P206L	ENSP00000292392:P206L	P	-	2	0	FCRL3	155933781	0.277000	0.24220	0.003000	0.11579	0.616000	0.37450	2.493000	0.45320	1.341000	0.45600	0.491000	0.48974	CCC	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.547	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	protein_coding	OTTHUMT00000051419.2	G	NM_052939	-		157667157	-1	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	SNP	0.002	A	A	157667157	G	A	157667157	3	1	112	1	0	0	0	0	1	0	0	0	5798	1232	43	2	1627	2	FCRL3	1	157667157	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	152401	157667157	91583464	63	7558											
OR10T2	128360	genome.wustl.edu	37	chr1	158369023	158369023	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggaccagcagctgagggatGatgacaaaagtgtagcagga	15	6	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:158369023G>A	ENST00000334438.1	-	1	233	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	78			I -> V (in dbSNP:rs6662597).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCTGAGGGATGATGACAAAAG	0.502																																																	0								ENSG00000186306						97	96	96					1																	158369023		2203	4300	6503	OR10T2	SO:0001819	synonymous_variant	0			-	HGNC	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.234C>T	1.37:g.158369023G>A		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q6IF98	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I78	ENST00000334438.1	37	c.234	CCDS30895.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	protein_coding	OTTHUMT00000046371.1	G	NM_001004475	-		158369023	-1	no_errors	ENST00000334438	ensembl	human	known	74_37	silent	SNP	0.664	A	A	158369023	G	A	158369023	2	1	112	1	0	0	0	0	0	0	0	1	10921	1280	45	2		2	OR10T2	1	158369023	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	701866	158369023	90881598	64	7559											
OR10X1	128367	genome.wustl.edu	37	chr1	158548922	158548922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgaggtgggaggcacaGgtggtgaaggccttctgctt	18	7	1	2	rs36024740		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:158548922G>A	ENST00000368150.1	-	1	767	c.768C>T	c.(766-768)acC>acT	p.T256T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	256						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(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGGAGGCACAGGTGGTGAAGG	0.488																																																	0								ENSG00000186400						142	141	142					1																	158548922		2203	4300	6503	OR10X1	SO:0001819	synonymous_variant	0			-	HGNC	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.768C>T	1.37:g.158548922G>A		Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q6IFR8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T256	ENST00000368150.1	37	c.768	CCDS30900.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	protein_coding	OTTHUMT00000051850.2	G	NM_001004477	-		158548922	-1	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	SNP	0.982	A	A	158548922	G	A	158548922	2	1	112	1	0	0	0	0	0	0	0	1	10924	987	35	2		2	OR10X1	1	158548922	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	179899	158548922	90701699	65	7560											
APCS	325	genome.wustl.edu	37	chr1	159558493	159558493	+	Missense_Mutation	SNP	G	G	T													tcatcaaacccttggtgtggGtctgaggtcttgactcaacg					rs201642560	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:159558493G>T	ENST00000255040.2	+	2	764	c.667G>T	c.(667-669)Gtc>Ttc	p.V223F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	223	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CTTGGTGTGGGTCTGAGGTCT	0.463																																																	0								ENSG00000132703						79	82	81					1																	159558493		2203	4300	6503	APCS	SO:0001583	missense	0			-	HGNC		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.667G>T	1.37:g.159558493G>T	ENSP00000255040:p.Val223Phe	Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43		Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.V223F	ENST00000255040.2	37	c.667	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391062	0.25118	.	.	ENSG00000132703	ENST00000255040	T	0.10382	2.88	4.16	-4.21	0.03812	Concanavalin A-like lectin/glucanase (1);	1.689950	0.03030	N	0.151911	T	0.01320	0.0043	N	0.08118	0	0.09310	N	0.999998	B	0.23854	0.092	B	0.11329	0.006	T	0.42464	-0.9450	10	0.59425	D	0.04	1.5685	1.9612	0.03387	0.2123:0.4163:0.2143:0.1571	.	223	P02743	SAMP_HUMAN	F	223	ENSP00000255040:V223F	ENSP00000255040:V223F	V	+	1	0	APCS	157825117	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-4.457000	0.00231	-0.568000	0.06038	-0.172000	0.13284	GTC	-	superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.463	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	protein_coding	OTTHUMT00000059024.2	G	NM_001639	-		159558493	1	no_errors	ENST00000255040	ensembl	human	known	74_37	missense	SNP	0.010	T	T	159558493	G	T	159558493	3	4	112	1	0	0	0	0	1	0	0	0	767	1261	44	3	673	3	APCS	1	159558493	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1009571	159558493	89692128	66	7561	109	2									
APCS	325	genome.wustl.edu	37	chr1	159558495	159558495	+	Silent	SNP	C	C	T													atcaaacccttggtgtgggtCtgaggtcttgactcaacgag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:159558495C>T	ENST00000255040.2	+	2	766	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	223	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGTGTGGGTCTGAGGTCTTG	0.463																																																	0								ENSG00000132703						77	81	79					1																	159558495		2203	4300	6503	APCS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"pentaxin-related", "9.5S alpha-1-glycoprotein"	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.669C>T	1.37:g.159558495C>T		Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45		Silent	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.V223	ENST00000255040.2	37	c.669	CCDS1186.1	1																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.463	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	protein_coding	OTTHUMT00000059024.2	C	NM_001639	-		159558495	1	no_errors	ENST00000255040	ensembl	human	known	74_37	silent	SNP	0.000	T	T	159558495	C	T	159558495	2	4	112	1	0	0	0	0	0	0	0	1	767	900	32	2		2	APCS	1	159558495	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2	159558495	89692126	67	7562	109	2									
ATP1A2	477	genome.wustl.edu	37	chr1	160098533	160098533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgctgggctccacgtccaCcatctgctcggacaagacgg	12	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:160098533C>T	ENST00000361216.3	+	9	1198	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T370I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	370					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACGTCCACCATCTGCTCG	0.607																																																	0								ENSG00000018625						130	107	115					1																	160098533		2203	4300	6503	ATP1A2	SO:0001583	missense	0			-	HGNC	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1109C>T	1.37:g.160098533C>T	ENSP00000354490:p.Thr370Ile	Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.T370I	ENST00000361216.3	37	c.1109	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.563184|4.563184	0.86335|0.86335	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.96913	.|-4.17;-4.17	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93996|0.93996	0.8077|0.8077	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	.|B;P;B;P	.|0.36483	.|0.271;0.555;0.265;0.555	.|B;P;B;P	.|0.50049	.|0.209;0.629;0.378;0.629	D|D	0.94425|0.94425	0.7644|0.7644	5|10	.|0.45353	.|T	.|0.12	.|.	16.9484|16.9484	0.86236|0.86236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|215;370;270;370	.|B4DHD7;B1AKY9;F5GXJ7;P50993	.|.;.;.;AT1A2_HUMAN	S|I	81|215;370;370;73	.|ENSP00000354490:T370I;ENSP00000376066:T370I	.|ENSP00000354490:T370I	P|T	+|+	1|2	0|0	ATP1A2|ATP1A2	158365157|158365157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.033000|6.033000	0.70925|0.70925	2.359000|2.359000	0.80004|0.80004	0.561000|0.561000	0.74099|0.74099	CCA|ACC	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.607	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	C	NM_000702	-		160098533	1	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160098533	C	T	160098533	3	4	112	1	0	0	0	0	1	0	0	0	1129	507	18	2	1143	2	ATP1A2	1	160098533	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	540038	160098533	89152088	68	7563											
F11R	50848	genome.wustl.edu	37	chr1	160970569	160970569	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccggtcctcataggaagcTaccacaagaggaggcaagag	12	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:160970569T>A	ENST00000368026.6	-	4	516		c.e4-2		F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_Splice_Site|F11R_ENST00000472573.1_Splice_Site	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CATAGGAAGCTACCACAAGAG	0.547																																																	0								ENSG00000158769						86	70	75					1																	160970569		2203	4300	6503	F11R	SO:0001630	splice_region_variant	0			-	HGNC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.242-2A>T	1.37:g.160970569T>A		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	33.33	B7Z941	Splice_Site	SNP							-	e4-2	ENST00000368026.6	37	c.242-2	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485136	0.44147	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9694	0.58503	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	F11R	159237193	0.996000	0.38824	0.895000	0.35142	0.455000	0.32408	3.798000	0.55522	1.937000	0.56155	0.460000	0.39030	.	-	-		0.547	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	protein_coding	OTTHUMT00000071458.3	T	NM_016946	-	Intron	160970569	-1	no_errors	ENST00000368026	ensembl	human	known	74_37	splice_site	SNP	0.972	A	A	160970569	T	A	160970569	5	1	112	1	0	0	0	0	0	0	1	0	5340	1536	53	5	687	5	F11R	1	160970569	Splice_Site	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	872036	160970569	88280052	69	7564											
FCGR3A	2214	genome.wustl.edu	37	chr1	161518431	161518431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgagcaccctgtaccaTtgaggctccaggaacaccac	8	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:161518431T>G	ENST00000436743.1	-	4	253	c.99A>C	c.(97-99)caA>caC	p.Q33H	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Missense_Mutation_p.Q69H|FCGR3A_ENST00000540048.1_Missense_Mutation_p.Q33H|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.Q68H	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	33	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCTGTACCATTGAGGCTCCA	0.547																																																	0								ENSG00000203747						135	129	131					1																	161518431		2203	4300	6503	FCGR3A	SO:0001583	missense	0			-	HGNC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.99A>C	1.37:g.161518431T>G	ENSP00000416607:p.Gln33His	Somatic	0	112	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	83	16.16	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.Q69H	ENST00000436743.1	37	c.207	CCDS44266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.33|15.33	2.802064|2.802064	0.50315|0.50315	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.09;3.09;3.09;3.09;3.09	4.43|4.43	-3.92|-3.92	0.04155|0.04155	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.649840	.|0.03682	.|N	.|0.245773	T|T	0.11410|0.11410	0.0278|0.0278	M|M	0.80332|0.80332	2.49|2.49	0.09310|0.09310	N|N	0.999996|0.999996	.|D;D;P	.|0.56035	.|0.966;0.974;0.899	.|P;P;P	.|0.55713	.|0.671;0.596;0.782	T|T	0.21586|0.21586	-1.0241|-1.0241	5|10	.|0.87932	.|D	.|0	.|.	11.2264|11.2264	0.48886|0.48886	0.0:0.5996:0.0:0.4004|0.0:0.5996:0.0:0.4004	.|.	.|33;68;33	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	T|H	50|69;68;33;33;33;32	.|ENSP00000356946:Q69H;ENSP00000392047:Q68H;ENSP00000416607:Q33H;ENSP00000356944:Q33H;ENSP00000444971:Q33H;ENSP00000396567:Q32H	.|ENSP00000356944:Q33H	N|Q	-|-	2|3	0|2	FCGR3A|FCGR3A	159785055|159785055	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	-1.438000|-1.438000	0.02416|0.02416	-0.916000|-0.916000	0.03818|0.03818	0.482000|0.482000	0.46254|0.46254	AAT|CAA	-	smart_Ig_sub,pfscan_Ig-like_dom		0.547	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	protein_coding	OTTHUMT00000102169.2	T	NM_000569	-		161518431	-1	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	SNP	0.007	G	G	161518431	T	G	161518431	3	3	112	1	0	0	0	0	1	0	0	0	5786	1490	52	5	677	5	FCGR3A	1	161518431	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	547862	161518431	87732190	70	7565											
ADCY10	55811	genome.wustl.edu	37	chr1	167806500	167806500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctacctgcgattttcagGaaaaaatgcagatgtctcag	8	10	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:167806500G>A	ENST00000367851.4	-	22	3248	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	ADCY10_ENST00000545172.1_Missense_Mutation_p.P869S|ADCY10_ENST00000367848.1_Missense_Mutation_p.P930S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1022					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						CGATTTTCAGGAAAAAATGCA	0.343																																																	0								ENSG00000143199						100	102	101					1																	167806500		2203	4300	6503	ADCY10	SO:0001583	missense	0			-	HGNC	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.3064C>T	1.37:g.167806500G>A	ENSP00000356825:p.Pro1022Ser	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	39	31.58	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP							pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.P1022S	ENST00000367851.4	37	c.3064	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263279	0.05754	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.28255	1.62;1.63;1.62	4.85	-3.05	0.05396	.	0.763337	0.11947	N	0.514066	T	0.04724	0.0128	N	0.17674	0.51	0.28116	N	0.930793	B;B	0.14438	0.01;0.006	B;B	0.08055	0.003;0.001	T	0.41251	-0.9519	9	0.18710	T	0.47	-1.32	6.1746	0.20437	0.5594:0.145:0.2955:0.0	.	930;1022	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	S	869;1022;930	ENSP00000441992:P869S;ENSP00000356825:P1022S;ENSP00000356822:P930S	ENSP00000356822:P930S	P	-	1	0	ADCY10	166073124	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.441000	0.06879	-0.438000	0.07232	-0.251000	0.11542	CCT	-	pirsf_Adenylate_cylcase_typ10		0.343	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	protein_coding	OTTHUMT00000083663.1	G	NM_018417	-		167806500	-1	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	SNP	0.000	A	A	167806500	G	A	167806500	3	1	112	1	0	0	0	0	1	0	0	0	293	1174	41	2	1816	2	ADCY10	1	167806500	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6288069	167806500	81444121	71	7566											
NME7	29922	genome.wustl.edu	37	chr1	169272385	169272385	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccaaattaaggacctacttGaaaaagggtcttgactggtg	10	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:169272385G>A	ENST00000367811.3	-	5	694	c.438C>T	c.(436-438)ttC>ttT	p.F146F	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Silent_p.F110F	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	146					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGACCTACTTGAAAAAGGGTC	0.294																																																	0								ENSG00000143156						58	57	57					1																	169272385		2203	4294	6497	NME7	SO:0001819	synonymous_variant	0			-	HGNC	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.438C>T	1.37:g.169272385G>A		Somatic	0	222	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	171	18.48	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP							pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.F146	ENST00000367811.3	37	c.438	CCDS1277.1	1																																																																																			-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase		0.294	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	protein_coding	OTTHUMT00000083688.1	G	NM_013330	-		169272385	-1	no_errors	ENST00000367811	ensembl	human	known	74_37	silent	SNP	0.901	A	A	169272385	G	A	169272385	2	1	112	1	0	0	0	0	0	0	0	1	10498	1281	45	2		2	NME7	1	169272385	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1465885	169272385	79978236	72	7567											
F5	2153	genome.wustl.edu	37	chr1	169493088	169493088	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagtttttctacactcCaagcattataagatccacca	4	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:169493088C>T	ENST00000367797.3	-	20	6044	c.5843G>A	c.(5842-5844)tGg>tAg	p.W1948*	F5_ENST00000367796.3_Nonsense_Mutation_p.W1953*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1948	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCTACACTCCAAGCATTATA	0.328																																																	0								ENSG00000198734						141	153	149					1																	169493088		2203	4300	6503	F5	SO:0001587	stop_gained	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5843G>A	1.37:g.169493088C>T	ENSP00000356771:p.Trp1948*	Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.W1948*	ENST00000367797.3	37	c.5843	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	48	14.023504	0.99775	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6027	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	1948;1953	.	ENSP00000356770:W1953X	W	-	2	0	F5	167759712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.987000	0.76206	2.746000	0.94184	0.655000	0.94253	TGG	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.328	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169493088	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	169493088	C	T	169493088	4	4	112	1	0	0	0	0	0	1	0	0	5350	595	21	2	855	2	F5	1	169493088	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	220703	169493088	79757533	73	7568											
SLC9A11	284525	genome.wustl.edu	37	chr1	173490500	173490500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcacctcctttacaaatGgtatctccagagtcaaaaca	4	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:173490500G>A	ENST00000367714.3	-	22	3101	c.2679C>T	c.(2677-2679)acC>acT	p.T893T	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	893					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CTTTACAAATGGTATCTCCAG	0.333																																																	0								ENSG00000162753						63	62	62					1																	173490500		2203	4299	6502	SLC9C2	SO:0001819	synonymous_variant	0			-	HGNC	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2679C>T	1.37:g.173490500G>A		Somatic	0	222	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	167	26.43	Q86UF3	Silent	SNP							pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.T893	ENST00000367714.3	37	c.2679	CCDS1308.1	1																																																																																			-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	protein_coding	OTTHUMT00000084205.1	G	NM_178527	-		173490500	-1	no_errors	ENST00000367714	ensembl	human	known	74_37	silent	SNP	0.999	A	A	173490500	G	A	173490500	2	1	112	1	0	0	0	0	0	0	0	1	14719	1335	47	2		2	SLC9A11	1	173490500	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3997412	173490500	75760121	74	7569											
ANKRD45	339416	genome.wustl.edu	37	chr1	173596261	173596261	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtcagtaacagctaaagaGacttttgcaatatatttttt	7	5	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:173596261G>A	ENST00000333279.2	-	4	594	c.534C>T	c.(532-534)gtC>gtT	p.V178V		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	194										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CAGCTAAAGAGACTTTTGCAA	0.383																																																	0								ENSG00000183831						140	146	144					1																	173596261		2203	4300	6503	ANKRD45	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.534C>T	1.37:g.173596261G>A		Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	49	38.75	A1A4G2|Q6ZST1	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V178	ENST00000333279.2	37	c.534	CCDS1309.1	1																																																																																			-	NULL		0.383	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD45	protein_coding	OTTHUMT00000097580.2	G	NM_198493	-		173596261	-1	no_errors	ENST00000333279	ensembl	human	known	74_37	silent	SNP	0.011	A	A	173596261	G	A	173596261	2	1	112	1	0	0	0	0	0	0	0	1	673	929	33	2		2	ANKRD45	1	173596261	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	105761	173596261	75654360	75	7570											
ANKRD45	339416	genome.wustl.edu	37	chr1	173616058	173616058	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcgagccctttcttcccgGaagttcaaagcttctatatc	6	13	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:173616058G>A	ENST00000333279.2	-	3	483	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	157										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCTTCCCGGAAGTTCAAAG	0.468																																																	0								ENSG00000183831						141	139	140					1																	173616058		2203	4300	6503	ANKRD45	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.423C>T	1.37:g.173616058G>A		Somatic	0	91	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	64	24.71	A1A4G2|Q6ZST1	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F141	ENST00000333279.2	37	c.423	CCDS1309.1	1																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.468	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD45	protein_coding	OTTHUMT00000097580.2	G	NM_198493	-		173616058	-1	no_errors	ENST00000333279	ensembl	human	known	74_37	silent	SNP	0.996	A	A	173616058	G	A	173616058	2	1	112	1	0	0	0	0	0	0	0	1	673	1165	41	2		2	ANKRD45	1	173616058	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	19797	173616058	75634563	76	7571											
TNR	7143	genome.wustl.edu	37	chr1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgctgttgaggctgatttCgtattcggtagctgggttca	13	8	1	2	rs531733667		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7. {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.E930K(2)		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)					AGGCTGATTTCGTATTCGGTA	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|breast(1)						ENSG00000116147						215	181	193					1																	175331865		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.2788G>A	1.37:g.175331865C>T	ENSP00000356646:p.Glu930Lys	Somatic	1	109	0.91		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.92	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E930K	ENST00000367674.2	37	c.2788	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717377	0.30413	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.31420	0.93	0.80722	D	1	P	0.44578	0.838	B	0.40534	0.332	T	0.21042	-1.0257	10	0.15066	T	0.55	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	930	Q92752	TENR_HUMAN	K	930;930;840	ENSP00000356646:E930K;ENSP00000263525:E930K	ENSP00000263525:E930K	E	-	1	0	TNR	173598488	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	6.819000	0.75262	2.625000	0.88918	0.650000	0.86243	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175331865	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	175331865	C	T	175331865	3	4	112	1	0	0	0	0	1	0	0	0	16345	893	31	1	1328	1	TNR	1	175331865	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1715807	175331865	73918756	77	7572											
TNR	7143	genome.wustl.edu	37	chr1	175362936	175362936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttggaatgaagctgatttCccacccatcgaaggaaaatg	9	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:175362936C>T	ENST00000367674.2	-	6	2044	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_ENST00000263525.2_Missense_Mutation_p.E446K			Q92752	TENR_HUMAN	tenascin R	446	Fibronectin type-III 2. {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)				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)					AAGCTGATTTCCCACCCATCG	0.473																																																	0								ENSG00000116147						228	224	225					1																	175362936		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.1336G>A	1.37:g.175362936C>T	ENSP00000356646:p.Glu446Lys	Somatic	0	117	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E446K	ENST00000367674.2	37	c.1336	CCDS1318.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.124462|5.124462	0.94429|0.94429	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.58358|.	0.34;0.34|.	4.51|4.51	4.51|4.51	0.55191|0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59088|0.59088	0.2168|0.2168	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.56257|0.56257	-0.8009|-0.8009	10|5	0.06365|.	T|.	0.9|.	.|.	17.1817|17.1817	0.86857|0.86857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446|.	Q92752|.	TENR_HUMAN|.	K|E	446|170	ENSP00000356646:E446K;ENSP00000263525:E446K|.	ENSP00000263525:E446K|.	E|G	-|-	1|2	0|0	TNR|TNR	173629559|173629559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.338000|7.338000	0.79269|0.79269	2.202000|2.202000	0.70862|0.70862	0.643000|0.643000	0.83706|0.83706	GAA|GGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175362936	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	175362936	C	T	175362936	3	4	112	1	0	0	0	0	1	0	0	0	16345	864	30	2	2812	2	TNR	1	175362936	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	31071	175362936	73887685	78	7573											
TNR	7143	genome.wustl.edu	37	chr1	175365934	175365934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactcgcaagtcctctGgaggggcaactaccgggagg	14	13	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:175365934G>A	ENST00000367674.2	-	5	1694	c.986C>T	c.(985-987)cCa>cTa	p.P329L	TNR_ENST00000263525.2_Missense_Mutation_p.P329L			Q92752	TENR_HUMAN	tenascin R	329	Fibronectin type-III 1. {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.P329R(1)		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)					CAAGTCCTCTGGAGGGGCAAC	0.557																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000116147						74	77	76					1																	175365934		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.986C>T	1.37:g.175365934G>A	ENSP00000356646:p.Pro329Leu	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.P329L	ENST00000367674.2	37	c.986	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589975	0.86851	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.79749	-1.3;-1.3	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.060171	0.64402	D	0.000003	D	0.89403	0.6705	M	0.80982	2.52	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	D	0.87600	0.2496	10	0.38643	T	0.18	.	19.9698	0.97280	0.0:0.0:1.0:0.0	.	329	Q92752	TENR_HUMAN	L	329	ENSP00000356646:P329L;ENSP00000263525:P329L	ENSP00000263525:P329L	P	-	2	0	TNR	173632557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.168000	0.71908	2.817000	0.96982	0.563000	0.77884	CCA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285	-		175365934	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	A	A	175365934	G	A	175365934	3	1	112	1	0	0	0	0	1	0	0	0	16345	1348	47	2	3166	2	TNR	1	175365934	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2998	175365934	73884687	79	7574											
PAPPA2	60676	genome.wustl.edu	37	chr1	176668379	176668379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaacacccggtccaagccGacaccctcaccctgtgggtc	8	19	1	0	rs201513629		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:176668379G>A	ENST00000367662.3	+	8	4054	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	964					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.D964N(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						GGTCCAAGCCGACACCCTCAC	0.577																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000116183						138	140	139					1																	176668379		2045	4189	6234	PAPPA2	SO:0001583	missense	0			-	HGNC	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.2890G>A	1.37:g.176668379G>A	ENSP00000356634:p.Asp964Asn	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D964N	ENST00000367662.3	37	c.2890	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955353	0.73902	.	.	ENSG00000116183	ENST00000367662	T	0.01647	4.71	5.05	4.14	0.48551	Fibronectin, type III (2);	0.268541	0.42548	N	0.000695	T	0.04724	0.0128	M	0.64997	1.995	0.80722	D	1	D	0.65815	0.995	P	0.52793	0.709	T	0.31251	-0.9950	10	0.72032	D	0.01	-21.7285	8.7463	0.34589	0.0799:0.1516:0.7685:0.0	.	964	Q9BXP8	PAPP2_HUMAN	N	964	ENSP00000356634:D964N	ENSP00000356634:D964N	D	+	1	0	PAPPA2	174935002	0.997000	0.39634	0.747000	0.31113	0.779000	0.44077	2.669000	0.46825	1.342000	0.45619	0.655000	0.94253	GAC	-	superfamily_Fibronectin_type3		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	G		rs201513629		176668379	1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	SNP	0.912	A	A	176668379	G	A	176668379	3	1	112	1	0	0	0	0	1	0	0	0	11435	1058	37	1	2969	1	PAPPA2	1	176668379	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1302445	176668379	72582242	80	7575											
C1orf125	126859	genome.wustl.edu	37	chr1	179354442	179354442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatatttcatgaacttattCgacaagtcagtgtggactgt	9	6	2	2	rs149782250		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:179354442C>T	ENST00000367618.3	+	9	1198	c.811C>T	c.(811-813)Cga>Tga	p.R271*	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Nonsense_Mutation_p.R271*	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAACTTATTCGACAAGTCAG	0.358																																																	0								ENSG00000162779	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	168	160	163		811	3.8	1	1	dbSNP_134	163	0,8600		0,0,4300	no	stop-gained	AXDND1	NM_144696.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/1013	179354442	1,13005	2203	4300	6503	AXDND1	SO:0001587	stop_gained	0			-	HGNC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.811C>T	1.37:g.179354442C>T	ENSP00000356590:p.Arg271*	Somatic	0	142	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	89	29.92	Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP							pfam_Axonemal_dynein_light_chain	p.R271*	ENST00000367618.3	37	c.811	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204491	0.58234	2.27E-4	0.0	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	.	.	.	5.71	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0E-4	8.8095	0.34959	0.1605:0.761:0.0:0.0786	.	.	.	.	X	271;229;271;205	.	ENSP00000353471:R229X	R	+	1	2	AXDND1	177621065	1.000000	0.71417	0.986000	0.45419	0.844000	0.47949	2.321000	0.43805	0.733000	0.32492	-0.274000	0.10170	CGA	-	pfam_Axonemal_dynein_light_chain		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	protein_coding	OTTHUMT00000085312.1	C	NM_144696	rs149782250		179354442	1	no_errors	ENST00000367618	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	179354442	C	T	179354442	4	4	112	1	0	0	0	0	0	1	0	0	1995	876	31	1	841	1	C1orf125	1	179354442	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2686063	179354442	69896179	81	7576											
CACNA1E	777	genome.wustl.edu	37	chr1	181549753	181549753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctagaaggatttgacccCcctcacccatgtggtgtgca	9	12	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:181549753C>T	ENST00000367573.2	+	6	792	c.792C>T	c.(790-792)ccC>ccT	p.P264P	CACNA1E_ENST00000360108.3_Silent_p.P264P|CACNA1E_ENST00000357570.5_Silent_p.P215P|CACNA1E_ENST00000358338.5_Silent_p.P215P|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.P264P|CACNA1E_ENST00000526775.1_Silent_p.P264P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	264					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						GATTTGACCCCCCTCACCCAT	0.502																																																	0								ENSG00000198216						188	182	184					1																	181549753		1974	4153	6127	CACNA1E	SO:0001819	synonymous_variant	0			-	HGNC	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.792C>T	1.37:g.181549753C>T		Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	39	29.09	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.P264	ENST00000367573.2	37	c.792	CCDS55664.1	1																																																																																			-	pfam_Ion_trans_dom,prints_VDCC_R_a1su		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721	-		181549753	1	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	SNP	0.934	T	T	181549753	C	T	181549753	2	4	112	1	0	0	0	0	0	0	0	1	2544	610	22	2		2	CACNA1E	1	181549753	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2195311	181549753	67700868	82	7577											
PRG4	10216	genome.wustl.edu	37	chr1	186280283	186280283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactaggtgcaactgtgaagGaaaaactttcttctttaagg	9	6	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:186280283G>A	ENST00000445192.2	+	9	3662	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	PRG4_ENST00000367484.3_Missense_Mutation_p.G735E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1165E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1163E|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_Missense_Mutation_p.G1113E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1206					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACTGTGAAGGAAAAACTTTC	0.343																																																	0								ENSG00000116690						92	88	89					1																	186280283		2203	4300	6503	PRG4	SO:0001583	missense	0			-	HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3617G>A	1.37:g.186280283G>A	ENSP00000399679:p.Gly1206Glu	Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP							pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.G1206E	ENST00000445192.2	37	c.3617	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548182	0.45383	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89	5.0	5.0	0.66597	Hemopexin/matrixin (2);	0.000000	0.42682	U	0.000668	T	0.21022	0.0506	M	0.82056	2.57	0.53005	D	0.99996	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	T	0.00668	-1.1618	10	0.72032	D	0.01	-10.0487	18.6476	0.91416	0.0:0.0:1.0:0.0	.	1072;1113;1206;1165	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	1163;735;1165;1113;1206	ENSP00000356456:G1163E;ENSP00000356454:G735E;ENSP00000356453:G1165E;ENSP00000356455:G1113E;ENSP00000399679:G1206E	ENSP00000356453:G1165E	G	+	2	0	PRG4	184546906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.163000	0.71880	2.474000	0.83562	0.585000	0.79938	GGA	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.343	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	G	NM_005807	-		186280283	1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186280283	G	A	186280283	3	1	112	1	0	0	0	0	1	0	0	0	12486	1174	41	2	3647	2	PRG4	1	186280283	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4730530	186280283	62970338	83	7578											
KCNT2	343450	genome.wustl.edu	37	chr1	196300353	196300353	+	Missense_Mutation	SNP	C	C	T													gacaaaaagtgggtgaacttCctatatatggagaataaggt					rs267598261		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:196300353C>T	ENST00000294725.9	-	18	2951	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	KCNT2_ENST00000367433.5_Missense_Mutation_p.G679E|KCNT2_ENST00000451324.2_Missense_Mutation_p.G290E|KCNT2_ENST00000609185.1_Missense_Mutation_p.G629E|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629E|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	679					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)			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						GGGTGAACTTCCTATATATGG	0.323																																																	0								ENSG00000162687						155	171	165					1																	196300353		2203	4294	6497	KCNT2	SO:0001583	missense	0			-	HGNC	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.2036G>A	1.37:g.196300353C>T	ENSP00000294725:p.Gly679Glu	Somatic	0	121	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	64	40.19	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.G679E	ENST00000294725.9	37	c.2036	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880640	0.91740	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	D	0.96318	0.8799	M	0.90145	3.09	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	0.998;1.0;1.0;1.0;0.998	D	0.96399	0.9295	10	0.59425	D	0.04	-22.352	19.0484	0.93032	0.0:1.0:0.0:0.0	.	679;661;679;629;679	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	E	679;629;500;290;679	ENSP00000356403:G679E;ENSP00000356401:G629E;ENSP00000405474:G290E;ENSP00000294725:G679E	ENSP00000294725:G679E	G	-	2	0	KCNT2	194566976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.745000	0.94114	0.484000	0.47621	GGA	-	NULL		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503	-		196300353	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196300353	C	T	196300353	3	4	112	1	0	0	0	0	1	0	0	0	8094	855	30	2	1415	2	KCNT2	1	196300353	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10020070	196300353	52950268	84	7579	110	2									
KCNT2	343450	genome.wustl.edu	37	chr1	196300354	196300354	+	Missense_Mutation	SNP	C	C	T													acaaaaagtgggtgaacttcCtatatatggagaataaggtg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:196300354C>T	ENST00000294725.9	-	18	2950	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	KCNT2_ENST00000367433.5_Missense_Mutation_p.G679R|KCNT2_ENST00000451324.2_Missense_Mutation_p.G290R|KCNT2_ENST00000609185.1_Missense_Mutation_p.G629R|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	679					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)			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						GGTGAACTTCCTATATATGGA	0.328																																																	0								ENSG00000162687						154	169	164					1																	196300354		2203	4294	6497	KCNT2	SO:0001583	missense	0			-	HGNC	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.2035G>A	1.37:g.196300354C>T	ENSP00000294725:p.Gly679Arg	Somatic	0	121	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	64	40.19	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.G679R	ENST00000294725.9	37	c.2035	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957880	0.92726	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	D	0.96324	0.8801	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;1.0;1.0;0.987	D;D;D;D;D	0.97110	0.972;1.0;1.0;1.0;0.972	D	0.96489	0.9362	10	0.62326	D	0.03	-22.352	19.0484	0.93032	0.0:1.0:0.0:0.0	.	679;661;679;629;679	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	679;629;500;290;679	ENSP00000356403:G679R;ENSP00000356401:G629R;ENSP00000405474:G290R;ENSP00000294725:G679R	ENSP00000294725:G679R	G	-	1	0	KCNT2	194566977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.745000	0.94114	0.484000	0.47621	GGA	-	NULL		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503	-		196300354	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196300354	C	T	196300354	3	4	112	1	0	0	0	0	1	0	0	0	8094	690	24	2	1416	2	KCNT2	1	196300354	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	196300354	52950267	85	7580	110	2									
PTPRC	5788	genome.wustl.edu	37	chr1	198687384	198687384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagtcgcataagaattgcGatttccgtgtaaaagatctt	9	6	1	3	rs144856406	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:198687384G>A	ENST00000367376.2	+	14	1777	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	PTPRC_ENST00000442510.2_Missense_Mutation_p.D538N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D488N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D377N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D375N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	536	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAAGAATTGCGATTTCCGTGT	0.388													G|||	3	0.000599042	0.0023	0	5008	,	,		17563	0		0	False		,,,				2504	0																0								ENSG00000081237	G	ASN/ASP,ASN/ASP	7,4399	12.9+/-30.5	0,7,2196	71	67	69		1606,1123	-9	0	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense,missense	PTPRC	NM_002838.3,NM_080921.2	23,23	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign	536/1305,375/1144	198687384	7,12999	2203	4300	6503	PTPRC	SO:0001583	missense	0			-	HGNC	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1606G>A	1.37:g.198687384G>A	ENSP00000356346:p.Asp536Asn	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	60	37.50	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP							pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D538N	ENST00000367376.2	37	c.1612		1	.	.	.	.	.	.	.	.	.	.	G	1.583	-0.531171	0.04112	0.001589	0.0	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.55930	0.49	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	5.728410	0.00357	N	0.000025	T	0.31199	0.0789	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B	0.22851	0.03;0.076;0.009;0.009;0.015	B;B;B;B;B	0.20767	0.024;0.031;0.012;0.012;0.021	T	0.20174	-1.0283	10	0.18710	T	0.47	.	2.477	0.04578	0.1251:0.4042:0.2059:0.2648	.	472;472;377;488;536	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	538;472;488;488;422;536;470;375	ENSP00000193532:D488N	ENSP00000306782:D375N	D	+	1	0	PTPRC	196954007	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-7.717000	0.00031	-5.543000	0.00013	-1.134000	0.01955	GAT	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	protein_coding		G		rs144856406		198687384	1	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	SNP	0.000	A	A	198687384	G	A	198687384	3	1	112	1	0	0	0	0	1	0	0	0	12805	1058	37	1	1667	1	PTPRC	1	198687384	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2387030	198687384	50563237	86	7581											
CACNA1S	779	genome.wustl.edu	37	chr1	201012494	201012494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtattggcacgagccagggGgttggtgcgtggatcttgtg	19	6	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201012494G>A	ENST00000362061.3	-	40	5189	c.4963C>T	c.(4963-4965)Ccc>Tcc	p.P1655S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1636S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1655					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)	CGAGCCAGGGGGTTGGTGCGT	0.537											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000081248						219	174	190					1																	201012494		2203	4300	6503	CACNA1S	SO:0001583	missense	0			-	HGNC	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.4963C>T	1.37:g.201012494G>A	ENSP00000355192:p.Pro1655Ser	Somatic	0	81	0	2118	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	75	20.21	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.P1655S	ENST00000362061.3	37	c.4963	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	9.292	1.050837	0.19827	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95853	-3.83;-3.76	5.15	4.24	0.50183	.	7739.210000	0.00166	N	0.000000	D	0.92851	0.7726	L	0.39020	1.185	0.33270	D	0.560919	B	0.06786	0.001	B	0.08055	0.003	T	0.77008	-0.2747	10	0.13853	T	0.58	.	11.747	0.51825	0.087:0.0:0.913:0.0	.	1655	Q13698	CAC1S_HUMAN	S	1655;1636	ENSP00000355192:P1655S;ENSP00000356307:P1636S	ENSP00000355192:P1655S	P	-	1	0	CACNA1S	199279117	1.000000	0.71417	0.893000	0.35052	0.665000	0.39181	2.751000	0.47508	1.166000	0.42689	0.544000	0.68410	CCC	-	NULL		0.537	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	G	NM_000069	-		201012494	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	SNP	0.982	A	A	201012494	G	A	201012494	3	1	112	1	0	0	0	0	1	0	0	0	2549	1232	43	2	678	2	CACNA1S	1	201012494	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2325110	201012494	48238127	87	7582											
IGFN1	91156	genome.wustl.edu	37	chr1	201169436	201169436	+	De_novo_Start_OutOfFrame	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgacagcagacaggaAggactacgagaagatctgct	13	8	1	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201169436A>T	ENST00000295591.8	+	0	660				IGFN1_ENST00000335211.4_Missense_Mutation_p.K177M|IGFN1_ENST00000451870.2_Missense_Mutation_p.K177M			Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCAGACAGGAAGGACTACGAG	0.557																																																	0								ENSG00000163395						136	140	139					1																	201169436		692	1591	2283	IGFN1			0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000295591.8:c.-7991A>T	1.37:g.201169436A>T		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	F8WAI1|Q9NT72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K177M	ENST00000295591.8	37	c.530		1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977218	0.74360	.	.	ENSG00000163395	ENST00000335211;ENST00000451870	T;T	0.64618	0.3;-0.11	5.31	5.31	0.75309	.	.	.	.	.	T	0.75125	0.3807	M	0.77820	2.39	0.80722	D	1	.	.	.	.	.	.	T	0.78816	-0.2055	7	0.87932	D	0	.	12.7869	0.57512	1.0:0.0:0.0:0.0	.	.	.	.	M	177	ENSP00000334714:K177M;ENSP00000398386:K177M	ENSP00000334714:K177M	K	+	2	0	IGFN1	199436059	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.246000	0.72405	2.015000	0.59207	0.459000	0.35465	AAG	-	NULL		0.557	IGFN1-201	KNOWN	basic	protein_coding	IGFN1	protein_coding		A	NM_178275	-		201169436	1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201169436	A	T	201169436	1	4	112	1	0	1	0	0	0	0	0	0	7592	72	3	5		5	IGFN1	1	201169436	De_novo_Start_OutOfFrame	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	156942	201169436	48081185	88	7583											
NAV1	89796	genome.wustl.edu	37	chr1	201777651	201777651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgagctatgggagaaGgaaatgaagcttacagacat	12	7	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201777651G>A	ENST00000367296.4	+	19	4371	c.3951G>A	c.(3949-3951)aaG>aaA	p.K1317K	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367302.1_Silent_p.K1270K|NAV1_ENST00000367295.1_Silent_p.K923K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.K1314K|NAV1_ENST00000367297.4_Silent_p.K1309K|NAV1_ENST00000367300.3_Silent_p.K1257K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1317					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				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						TATGGGAGAAGGAAATGAAGC	0.567																																																	0								ENSG00000134369						82	86	85					1																	201777651		2203	4300	6503	NAV1	SO:0001819	synonymous_variant	0			-	HGNC	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.3951G>A	1.37:g.201777651G>A		Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1317	ENST00000367296.4	37	c.3951	CCDS1414.2	1																																																																																			-	NULL		0.567	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	G	NM_020443	-		201777651	1	no_errors	ENST00000367296	ensembl	human	known	74_37	silent	SNP	0.996	A	A	201777651	G	A	201777651	2	1	112	1	0	0	0	0	0	0	0	1	10185	991	35	2		2	NAV1	1	201777651	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	608215	201777651	47472970	89	7584											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202462333	202462333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagcctcgtgagaagcCcacagacactgaagggcttg	14	11	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:202462333C>T	ENST00000608999.1	+	15	2186	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.P678L|PPP1R12B_ENST00000391959.3_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	678					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CGTGAGAAGCCCACAGACACT	0.597																																																	0								ENSG00000077157						71	72	71					1																	202462333		2203	4300	6503	PPP1R12B	SO:0001583	missense	0			-	HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2033C>T	1.37:g.202462333C>T	ENSP00000476755:p.Pro678Leu	Somatic	0	176	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	71	49.65	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P678L	ENST00000608999.1	37	c.2033	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933394	0.34096	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.02472	4.28;4.28	5.68	4.76	0.60689	.	0.369011	0.22968	N	0.053470	T	0.02380	0.0073	N	0.16478	0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.54820	-0.8236	10	0.33141	T	0.24	.	11.0024	0.47614	0.0:0.9108:0.0:0.0892	.	678;678	O60237;F8W8M3	MYPT2_HUMAN;.	L	678	ENSP00000384496:P678L;ENSP00000337897:P678L	ENSP00000337897:P678L	P	+	2	0	PPP1R12B	200728956	0.941000	0.31946	0.874000	0.34290	0.546000	0.35178	2.958000	0.49145	1.369000	0.46134	0.655000	0.94253	CCC	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.597	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	C	NM_032105	-		202462333	1	no_errors	ENST00000336894	ensembl	human	known	74_37	missense	SNP	0.957	T	T	202462333	C	T	202462333	3	4	112	1	0	0	0	0	1	0	0	0	12360	623	22	2	2181	2	PPP1R12B	1	202462333	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	684682	202462333	46788288	90	7585											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202544234	202544234	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccagactctcggagtcCatcgagtcctcggacaccca	11	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:202544234C>T	ENST00000608999.1	+	24	3015				PPP1R12B_ENST00000367270.4_Silent_p.S215S|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000391959.3_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTCGGAGTCCATCGAGTCCT	0.547																																																	0								ENSG00000077157						92	91	92					1																	202544234		2203	4300	6503	PPP1R12B	SO:0001627	intron_variant	0			-	HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2863-5368C>T	1.37:g.202544234C>T		Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	15	46.43	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP							NULL	p.S215	ENST00000608999.1	37	c.645	CCDS1426.1	1																																																																																			-	NULL		0.547	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	C	NM_032105	-		202544234	1	no_errors	ENST00000367270	ensembl	human	known	74_37	silent	SNP	0.999	T	T	202544234	C	T	202544234	1	4	112	0	1	0	0	0	0	0	0	0	12360	581	21	2		2	PPP1R12B	1	202544234	Intron	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	81901	202544234	46706387	91	7586											
ADIPOR1	51094	genome.wustl.edu	37	chr1	202912941	202912941	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtcccactgcgccacaatGatggcagaaatgcccaggac	11	14	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:202912941G>A	ENST00000340990.5	-	6	1048	c.750C>T	c.(748-750)atC>atT	p.I250I	ADIPOR1_ENST00000436244.1_Silent_p.I250I|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.H161Y	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	250					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCGCCACAATGATGGCAGAAA	0.542																																																	0								ENSG00000159346						82	70	74					1																	202912941		2203	4300	6503	ADIPOR1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.750C>T	1.37:g.202912941G>A		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	40	38.46	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP							NULL	p.H161Y	ENST00000340990.5	37	c.481	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072164	0.76415	.	.	ENSG00000159346	ENST00000367254	T	0.42900	0.96	5.99	5.99	0.97316	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.30213	N	0.797514	.	.	.	.	.	.	T	0.05971	-1.0853	6	0.02654	T	1	.	13.9437	0.64071	0.0:0.0:0.8482:0.1518	.	.	.	.	Y	161	ENSP00000356223:H161Y	ENSP00000356223:H161Y	H	-	1	0	ADIPOR1	201179564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.728000	0.62000	2.840000	0.97914	0.655000	0.94253	CAT	-	NULL		0.542	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	protein_coding	OTTHUMT00000099160.2	G	NM_015999	-		202912941	-1	no_errors	ENST00000367254	ensembl	human	known	74_37	missense	SNP	1.000	A	A	202912941	G	A	202912941	2	1	112	1	0	0	0	0	0	0	0	1	318	1280	45	2		2	ADIPOR1	1	202912941	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	368707	202912941	46337680	92	7587											
ATP2B4	493	genome.wustl.edu	37	chr1	203677214	203677214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttctatcaacagtgcTtatacctccaagattctggt	7	10	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:203677214T>C	ENST00000357681.5	+	10	2662	c.1539T>C	c.(1537-1539)gcT>gcC	p.A513A	ATP2B4_ENST00000367218.3_Silent_p.A513A|ATP2B4_ENST00000341360.2_Silent_p.A513A|ATP2B4_ENST00000367219.3_Silent_p.A501A|ATP2B4_ENST00000391954.2_Silent_p.A513A	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	513					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAACAGTGCTTATACCTCCA	0.453																																																	0								ENSG00000058668						231	210	217					1																	203677214		2203	4300	6503	ATP2B4	SO:0001819	synonymous_variant	0			-	HGNC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1539T>C	1.37:g.203677214T>C		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	35	48.53	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.A513	ENST00000357681.5	37	c.1539	CCDS1440.1	1																																																																																			-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.453	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	protein_coding	OTTHUMT00000087462.1	T	NM_001001396	-		203677214	1	no_errors	ENST00000357681	ensembl	human	known	74_37	silent	SNP	1.000	C	C	203677214	T	C	203677214	2	2	112	1	0	0	0	0	0	0	0	1	1142	1596	56	5		5	ATP2B4	1	203677214	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	764273	203677214	45573407	93	7588											
LRRN2	10446	genome.wustl.edu	37	chr1	204587480	204587480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacactgtgttgggtggGgtgacccaagatagcaggat	17	6	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:204587480G>A	ENST00000367175.1	-	1	3853	c.1641C>T	c.(1639-1641)acC>acT	p.T547T	LRRN2_ENST00000367177.3_Silent_p.T547T|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Silent_p.T547T|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	547					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			TGTTGGGTGGGGTGACCCAAG	0.677																																																	0								ENSG00000170382						94	91	92					1																	204587480		2203	4300	6503	LRRN2	SO:0001819	synonymous_variant	0			-	HGNC	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.1641C>T	1.37:g.204587480G>A		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T547	ENST00000367175.1	37	c.1641	CCDS1448.1	1																																																																																			-	superfamily_Fibronectin_type3		0.677	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	protein_coding	OTTHUMT00000089894.1	G	NM_006338	-		204587480	-1	no_errors	ENST00000367175	ensembl	human	known	74_37	silent	SNP	0.038	A	A	204587480	G	A	204587480	2	1	112	1	0	0	0	0	0	0	0	1	9037	1219	43	2		2	LRRN2	1	204587480	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	910266	204587480	44663141	94	7589											
TMCC2	9911	genome.wustl.edu	37	chr1	205211030	205211030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgctgcgcaaggcccCccaggacagcagcctggccg	12	18	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:205211030C>T	ENST00000358024.3	+	2	994	c.605C>T	c.(604-606)cCc>cTc	p.P202L	TMCC2_ENST00000545499.1_Missense_Mutation_p.P124L|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	202						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCAAGGCCCCCCAGGACAGC	0.711																																																	0								ENSG00000133069						13	13	13					1																	205211030		2167	4255	6422	TMCC2	SO:0001583	missense	0			-	HGNC	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.605C>T	1.37:g.205211030C>T	ENSP00000350718:p.Pro202Leu	Somatic	0	14	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP							pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.P202L	ENST00000358024.3	37	c.605	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981485	0.74474	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.32023	1.47;1.51	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000017	T	0.26702	0.0653	L	0.36672	1.1	0.58432	D	0.999997	B	0.33694	0.421	B	0.26864	0.074	T	0.11203	-1.0597	10	0.87932	D	0	.	18.0202	0.89253	0.0:1.0:0.0:0.0	.	202	O75069	TMCC2_HUMAN	L	202;124	ENSP00000350718:P202L;ENSP00000437943:P124L	ENSP00000350718:P202L	P	+	2	0	TMCC2	203477653	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.497000	0.73674	2.330000	0.79161	0.462000	0.41574	CCC	-	NULL		0.711	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	protein_coding	OTTHUMT00000090383.1	C	NM_014858	-		205211030	1	no_errors	ENST00000358024	ensembl	human	known	74_37	missense	SNP	1.000	T	T	205211030	C	T	205211030	3	4	112	1	0	0	0	0	1	0	0	0	16000	623	22	2	611	2	TMCC2	1	205211030	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	623550	205211030	44039591	95	7590											
CR1	1378	genome.wustl.edu	37	chr1	207787831	207787831	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	12	5	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:207787831G>A	ENST00000367049.4	+	40	6658	c.6658G>A	c.(6658-6660)Gaa>Aaa	p.E2220K	CR1_ENST00000367051.1_Missense_Mutation_p.E1770K|CR1_ENST00000367053.1_Missense_Mutation_p.E1770K|CR1_ENST00000400960.2_Missense_Mutation_p.E1770K|CR1_ENST00000367052.1_Missense_Mutation_p.E1770K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					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)	p.E2220*(6)|p.E1775*(6)		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						TCCAGTGTGTGAACGTGAGTA	0.408																																																	12	Substitution - Nonsense(12)	kidney(8)|endometrium(4)						ENSG00000203710						131	122	125					1																	207787831		1887	4127	6014	CR1	SO:0001583	missense	0			-	HGNC	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.6658G>A	1.37:g.207787831G>A	ENSP00000356016:p.Glu2220Lys	Somatic	0	270	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	186	21.85	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E2220K	ENST00000367049.4	37	c.6658	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106617	0.77096	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.29	4.29	0.51040	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.42063	0.1186	M	0.62088	1.915	0.26472	N	0.975259	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.985	T	0.29150	-1.0021	9	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	1770;2220	P17927;E9PDY4	CR1_HUMAN;.	K	1770;1770;1770;1770;2220	ENSP00000356019:E1770K;ENSP00000356018:E1770K;ENSP00000356020:E1770K;ENSP00000383744:E1770K;ENSP00000356016:E2220K	ENSP00000356016:E2220K	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	protein_coding	OTTHUMT00000382527.1	G	NM_000573	-		207787831	1	no_errors	ENST00000367049	ensembl	human	known	74_37	missense	SNP	1.000	A	A	207787831	G	A	207787831	3	1	112	1	0	0	0	0	1	0	0	0	3842	1291	45	2	6816	2	CR1	1	207787831	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2576801	207787831	41462790	96	7591											
PLXNA2	5362	genome.wustl.edu	37	chr1	208215704	208215704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacgtgctgctgcccgtttCcttgtacctggggtggggtg	15	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:208215704C>T	ENST00000367033.3	-	22	4782	c.4025G>A	c.(4024-4026)gGa>gAa	p.G1342E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1342					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCCCGTTTCCTTGTACCTG	0.622																																																	0								ENSG00000076356						107	109	109					1																	208215704		2203	4300	6503	PLXNA2	SO:0001583	missense	0			-	HGNC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4025G>A	1.37:g.208215704C>T	ENSP00000356000:p.Gly1342Glu	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1342E	ENST00000367033.3	37	c.4025	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.061227	0.93846	.	.	ENSG00000076356	ENST00000367033	T	0.09630	2.96	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	N	0.21097	0.63	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.10132	-1.0643	10	0.20519	T	0.43	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	1342	O75051	PLXA2_HUMAN	E	1342	ENSP00000356000:G1342E	ENSP00000356000:G1342E	G	-	2	0	PLXNA2	206282327	1.000000	0.71417	0.942000	0.38095	0.890000	0.51754	7.480000	0.81109	2.460000	0.83146	0.557000	0.71058	GGA	-	pfam_Plexin_cytoplasmic_RasGAP_dom		0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	C	NM_025179	-		208215704	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	208215704	C	T	208215704	3	4	112	1	0	0	0	0	1	0	0	0	12122	855	30	2	1703	2	PLXNA2	1	208215704	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	427873	208215704	41034917	97	7592											
KCNK2	3776	genome.wustl.edu	37	chr1	215259781	215259781	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggctctcgttttccacGaaacccacagtgcttgcttc	8	15	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:215259781G>A	ENST00000444842.2	+	2	267	c.117G>A	c.(115-117)acG>acA	p.T39T	KCNK2_ENST00000391895.2_Silent_p.T35T|KCNK2_ENST00000391894.2_Silent_p.T24T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	39					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.T24T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CGTTTTCCACGAAACCCACAG	0.507																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000082482						73	70	71					1																	215259781		2203	4300	6503	KCNK2	SO:0001819	synonymous_variant	0			-	HGNC	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.117G>A	1.37:g.215259781G>A		Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.T39	ENST00000444842.2	37	c.117	CCDS41467.1	1																																																																																			-	NULL		0.507	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	protein_coding	OTTHUMT00000089856.2	G	NM_014217	-		215259781	1	no_errors	ENST00000444842	ensembl	human	known	74_37	silent	SNP	0.984	A	A	215259781	G	A	215259781	2	1	112	1	0	0	0	0	0	0	0	1	8068	1045	37	1		1	KCNK2	1	215259781	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7044077	215259781	33990840	98	7593											
USH2A	7399	genome.wustl.edu	37	chr1	215914811	215914811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccagtgccttaagaacagGagaattaagatccattgggg	11	9	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:215914811G>A	ENST00000307340.3	-	60	12003	c.11617C>T	c.(11617-11619)Cct>Tct	p.P3873S	USH2A_ENST00000366943.2_Missense_Mutation_p.P3873S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3873	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAAGAACAGGAGAATTAAGA	0.378										HNSCC(13;0.011)																																							0								ENSG00000042781						124	126	125					1																	215914811		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11617C>T	1.37:g.215914811G>A	ENSP00000305941:p.Pro3873Ser	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	67	25.56	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P3873S	ENST00000307340.3	37	c.11617	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956892	0.53293	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56776	0.44;0.44	5.38	5.38	0.77491	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000420	T	0.73481	0.3592	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.68123	-0.5492	10	0.18276	T	0.48	.	19.3333	0.94303	0.0:0.0:1.0:0.0	.	3873	O75445	USH2A_HUMAN	S	3873	ENSP00000305941:P3873S;ENSP00000355910:P3873S	ENSP00000305941:P3873S	P	-	1	0	USH2A	213981434	1.000000	0.71417	0.180000	0.23079	0.038000	0.13279	7.423000	0.80229	2.793000	0.96121	0.655000	0.94253	CCT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		215914811	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.980	A	A	215914811	G	A	215914811	3	1	112	1	0	0	0	0	1	0	0	0	17043	1174	41	2	4043	2	USH2A	1	215914811	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	655030	215914811	33335810	99	7594											
USH2A	7399	genome.wustl.edu	37	chr1	216061968	216061968	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catggaatgactcctcgggaGagtcaccagggtagtaactt	12	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:216061968G>C	ENST00000307340.3	-	41	8409	c.8023C>G	c.(8023-8025)Ctc>Gtc	p.L2675V	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L2675V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2675	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L2675V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTCGGGAGAGTCACCAGG	0.458										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	breast(1)						ENSG00000042781						85	89	88					1																	216061968		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8023C>G	1.37:g.216061968G>C	ENSP00000305941:p.Leu2675Val	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L2675V	ENST00000307340.3	37	c.8023	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876130	0.51801	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.84	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38548	N	0.001645	T	0.34716	0.0907	L	0.31664	0.95	0.37893	D	0.930786	P	0.39424	0.673	B	0.38327	0.271	T	0.16897	-1.0387	10	0.16420	T	0.52	.	6.4538	0.21918	0.2059:0.1329:0.6611:0.0	.	2675	O75445	USH2A_HUMAN	V	2675	ENSP00000305941:L2675V;ENSP00000355910:L2675V	ENSP00000305941:L2675V	L	-	1	0	USH2A	214128591	0.845000	0.29573	0.752000	0.31206	0.703000	0.40648	1.025000	0.30090	0.778000	0.33520	0.655000	0.94253	CTC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		216061968	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.991	C	C	216061968	G	C	216061968	3	2	112	1	0	0	0	0	1	0	0	0	17043	942	33	4	7713	4	USH2A	1	216061968	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	147157	216061968	33188653	100	7595											
RRP15	51018	genome.wustl.edu	37	chr1	218475648	218475648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctataggaagctgtggatCggaaaaggaccacttttatt	10	6	1	0	rs566238943		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:218475648C>T	ENST00000366932.3	+	2	182	c.152C>T	c.(151-153)tCg>tTg	p.S51L	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	51						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGCTGTGGATCGGAAAAGGAC	0.458													C|||	1	0.000199681	0	0	5008	,	,		18534	0		0	False		,,,				2504	0.001																0								ENSG00000067533						112	114	113					1																	218475648		2203	4300	6503	RRP15	SO:0001583	missense	0			-	HGNC		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.152C>T	1.37:g.218475648C>T	ENSP00000355899:p.Ser51Leu	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95		Missense_Mutation	SNP							pfam_DUF1665	p.S51L	ENST00000366932.3	37	c.152	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655937	0.14580	.	.	ENSG00000067533	ENST00000366932	T	0.25250	1.81	5.87	-10.6	0.00265	.	2.415100	0.01695	N	0.026850	T	0.12732	0.0309	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12167	-1.0558	10	0.27785	T	0.31	-8.1786	16.1452	0.81562	0.0:0.0967:0.0873:0.8161	.	51	Q9Y3B9	RRP15_HUMAN	L	51	ENSP00000355899:S51L	ENSP00000355899:S51L	S	+	2	0	RRP15	216542271	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.009000	0.13219	-2.059000	0.00894	-1.096000	0.02151	TCG	-	NULL		0.458	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	protein_coding	OTTHUMT00000095284.1	C	NM_016052	-		218475648	1	no_errors	ENST00000366932	ensembl	human	known	74_37	missense	SNP	0.000	T	T	218475648	C	T	218475648	3	4	112	1	0	0	0	0	1	0	0	0	13695	893	31	1	158	1	RRP15	1	218475648	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2413680	218475648	30774973	101	7596											
TP53BP2	7159	genome.wustl.edu	37	chr1	223994597	223994597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatctgttgctgctggcgaGatgccatttcctgaagttca	10	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:223994597G>A	ENST00000343537.7	-	5	716	c.425C>T	c.(424-426)tCt>tTt	p.S142F	TP53BP2_ENST00000391878.2_Missense_Mutation_p.S13F	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	136	Gln-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGCTGGCGAGATGCCATTTC	0.423																																																	0								ENSG00000143514						159	151	154					1																	223994597		2203	4300	6503	TP53BP2	SO:0001583	missense	0			-	HGNC	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.425C>T	1.37:g.223994597G>A	ENSP00000341957:p.Ser142Phe	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S142F	ENST00000343537.7	37	c.425	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.387599	0.95988	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.33216	1.42;1.42	5.13	5.13	0.70059	.	0.114234	0.64402	D	0.000010	T	0.52853	0.1760	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.989;0.997	P;D	0.66847	0.768;0.947	T	0.54695	-0.8255	10	0.72032	D	0.01	.	18.9528	0.92646	0.0:0.0:1.0:0.0	.	142;136	B4DG66;Q13625	.;ASPP2_HUMAN	F	13;142	ENSP00000375750:S13F;ENSP00000341957:S142F	ENSP00000341957:S142F	S	-	2	0	TP53BP2	222061220	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.269000	0.95684	2.544000	0.85801	0.563000	0.77884	TCT	-	NULL		0.423	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	protein_coding	OTTHUMT00000090985.3	G	NM_001031685, NM_005426	-		223994597	-1	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	SNP	1.000	A	A	223994597	G	A	223994597	3	1	112	1	0	0	0	0	1	0	0	0	16391	942	33	2	3035	2	TP53BP2	1	223994597	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5518949	223994597	25256024	102	7597											
ENAH	55740	genome.wustl.edu	37	chr1	225702465	225702465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagaggagggggaggagGgggcggtggaggcccggtgg	28	4	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:225702465G>A	ENST00000366844.3	-	7	1502	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ENAH_ENST00000284563.6_Missense_Mutation_p.P598S|ENAH_ENST00000366843.2_Missense_Mutation_p.P351S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	351	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gggggaggagggggcggtgga	0.657																																																	0								ENSG00000154380						6	8	7					1																	225702465		2030	3951	5981	ENAH	SO:0001583	missense	0			-	HGNC	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1051C>T	1.37:g.225702465G>A	ENSP00000355809:p.Pro351Ser	Somatic	0	16	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP							pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.P351S	ENST00000366844.3	37	c.1051	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069827	0.55539	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;D	0.85484	-0.58;-0.58;-1.99	4.94	4.03	0.46877	.	0.599099	0.16339	N	0.218783	D	0.91536	0.7327	M	0.81802	2.56	0.47276	D	0.999373	D;D	0.69078	0.996;0.997	D;D	0.78314	0.991;0.986	D	0.89324	0.3642	10	0.30078	T	0.28	-0.0818	13.0843	0.59132	0.0785:0.0:0.9215:0.0	.	351;351	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	S	351;351;598;313	ENSP00000355809:P351S;ENSP00000355808:P351S;ENSP00000284563:P598S	ENSP00000284563:P598S	P	-	1	0	ENAH	223769088	1.000000	0.71417	0.033000	0.17914	0.789000	0.44602	3.468000	0.53086	1.087000	0.41251	0.460000	0.39030	CCT	-	NULL		0.657	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	protein_coding	OTTHUMT00000357426.2	G	NM_018212	-		225702465	-1	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	SNP	0.959	A	A	225702465	G	A	225702465	3	1	112	1	0	0	0	0	1	0	0	0	5113	1232	43	2	760	2	ENAH	1	225702465	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1707868	225702465	23548156	103	7598											
WNT3A	89780	genome.wustl.edu	37	chr1	228210563	228210563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccggtggaactgcacCaccgtccacgacagcctggc	13	17	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:228210563C>T	ENST00000284523.1	+	2	345	c.267C>T	c.(265-267)acC>acT	p.T89T	WNT3A_ENST00000366753.2_Silent_p.T89T	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	89					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGAACTGCACCACCGTCCACG	0.642																																																	0								ENSG00000154342						42	44	44					1																	228210563		2203	4300	6503	WNT3A	SO:0001819	synonymous_variant	0			-	HGNC	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.267C>T	1.37:g.228210563C>T		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	Q3SY79|Q3SY80|Q969P2	Silent	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.T89	ENST00000284523.1	37	c.267	CCDS1564.1	1																																																																																			-	pfam_Wnt,smart_Wnt		0.642	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	protein_coding	OTTHUMT00000091648.1	C	NM_033131	-		228210563	1	no_errors	ENST00000366753	ensembl	human	known	74_37	silent	SNP	1.000	T	T	228210563	C	T	228210563	2	4	112	1	0	0	0	0	0	0	0	1	17396	581	21	2		2	WNT3A	1	228210563	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2508098	228210563	21040058	104	7599											
OBSCN	84033	genome.wustl.edu	37	chr1	228476585	228476585	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctctgccactctcaccgtGaagggtaatgactgctcctg	9	14	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:228476585G>A	ENST00000422127.1	+	38	10379	c.10335G>A	c.(10333-10335)gtG>gtA	p.V3445V	OBSCN_ENST00000359599.6_Silent_p.V2292V|OBSCN_ENST00000284548.11_Silent_p.V3445V|OBSCN_ENST00000570156.2_Silent_p.V3874V|OBSCN_ENST00000366709.4_Silent_p.V564V|OBSCN_ENST00000366707.4_Silent_p.V564V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3445					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)				CTCTCACCGTGAAGGGTAATG	0.612																																																	0								ENSG00000154358						86	97	93					1																	228476585		2195	4281	6476	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.10335G>A	1.37:g.228476585G>A		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V3445	ENST00000422127.1	37	c.10335	CCDS58065.1	1																																																																																			-	smart_Ig_sub		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228476585	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.106	A	A	228476585	G	A	228476585	2	1	112	1	0	0	0	0	0	0	0	1	10814	1277	45	2		2	OBSCN	1	228476585	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	266022	228476585	20774036	105	7600											
OBSCN	84033	genome.wustl.edu	37	chr1	228521410	228521410	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccgtcacccgggaggactCtggccagtatgcagcctata	11	14	2	0	rs553002345		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:228521410C>T	ENST00000422127.1	+	59	16027	c.15983C>T	c.(15982-15984)tCt>tTt	p.S5328F	OBSCN_ENST00000284548.11_Missense_Mutation_p.S5328F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S6285F|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2447F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S2962F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5328	Ig-like 50.				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)				CGGGAGGACTCTGGCCAGTAT	0.607																																																	0								ENSG00000154358						41	48	45					1																	228521410		2070	4218	6288	OBSCN	SO:0001583	missense	0			-	HGNC	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.15983C>T	1.37:g.228521410C>T	ENSP00000409493:p.Ser5328Phe	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	40	34.43	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S5328F	ENST00000422127.1	37	c.15983	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345509	0.41498	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.62	3.7	0.42460	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.19259	N	0.118729	T	0.67173	0.2865	M	0.80332	2.49	0.09310	N	1	P;P	0.42941	0.794;0.755	B;B	0.38428	0.273;0.179	T	0.62358	-0.6871	10	0.72032	D	0.01	.	12.4276	0.55556	0.1301:0.7376:0.1323:0.0	.	5328;5328	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	5328;5328;2962;2447	ENSP00000284548:S5328F;ENSP00000409493:S5328F;ENSP00000355668:S2962F;ENSP00000355670:S2447F	ENSP00000284548:S5328F	S	+	2	0	OBSCN	226588033	0.206000	0.23470	0.001000	0.08648	0.002000	0.02628	2.937000	0.48979	0.690000	0.31570	0.655000	0.94253	TCT	-	pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228521410	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.036	T	T	228521410	C	T	228521410	3	4	112	1	0	0	0	0	1	0	0	0	10814	913	32	2	16213	2	OBSCN	1	228521410	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	44825	228521410	20729211	106	7601											
URB2	9816	genome.wustl.edu	37	chr1	229771837	229771837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcctgtgctggcctcgGgcccctccacggtactctct	12	17	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:229771837G>A	ENST00000258243.2	+	4	1613	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	493						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGGCCTCGGGCCCCTCCAC	0.572																																																	0								ENSG00000135763						109	115	113					1																	229771837		2203	4300	6503	URB2	SO:0001583	missense	0			-	HGNC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1477G>A	1.37:g.229771837G>A	ENSP00000258243:p.Gly493Ser	Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q5VYC9	Missense_Mutation	SNP							pfam_Urb2/Npa2_C	p.G493S	ENST00000258243.2	37	c.1477	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532262	0.45073	.	.	ENSG00000135763	ENST00000258243	T	0.28454	1.61	5.35	4.42	0.53409	.	0.261319	0.36200	N	0.002730	T	0.30198	0.0757	L	0.60455	1.87	0.38438	D	0.946636	P	0.37441	0.595	B	0.34931	0.192	T	0.18023	-1.0350	9	.	.	.	-14.3665	15.0726	0.72049	0.072:0.0:0.9279:0.0	.	493	Q14146	URB2_HUMAN	S	493	ENSP00000258243:G493S	.	G	+	1	0	URB2	227838460	1.000000	0.71417	0.845000	0.33349	0.181000	0.23173	4.497000	0.60367	2.684000	0.91462	0.650000	0.86243	GGC	-	NULL		0.572	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	G	NM_014777	-		229771837	1	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	SNP	0.860	A	A	229771837	G	A	229771837	3	1	112	1	0	0	0	0	1	0	0	0	17032	1232	43	2	1487	2	URB2	1	229771837	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1250427	229771837	19478784	107	7602											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232568109	232568109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggcttggacatggacccGggaacctgttgtccgctgct	14	11	0	0	rs374952058		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:232568109G>A	ENST00000366630.1	-	15	4498	c.4140C>T	c.(4138-4140)ccC>ccT	p.P1380P	SIPA1L2_ENST00000308942.4_Silent_p.P454P|SIPA1L2_ENST00000262861.4_Silent_p.P1380P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1380	Ser-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACATGGACCCGGGAACCTGTT	0.542																																																	0								ENSG00000116991	A		0,3920		0,0,1960	108	106	107		4140	-11.8	0	1		107	5,8317		0,5,4156	no	coding-synonymous	SIPA1L2	NM_020808.3		0,5,6116	AA,AG,GG		0.0601,0.0,0.0408		1380/1723	232568109	5,12237	1960	4161	6121	SIPA1L2	SO:0001819	synonymous_variant	0			-	HGNC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4140C>T	1.37:g.232568109G>A		Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P1380	ENST00000366630.1	37	c.4140	CCDS41474.1	1																																																																																			-	NULL		0.542	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	G	XM_045839	-		232568109	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	silent	SNP	0.003	A	A	232568109	G	A	232568109	2	1	112	1	0	0	0	0	0	0	0	1	14338	1103	39	1		1	SIPA1L2	1	232568109	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2796272	232568109	16682512	108	7603											
PCNXL2	80003	genome.wustl.edu	37	chr1	233134090	233134090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggctgccaccactcgGggcattgttgccacctgtcg	11	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:233134090G>A	ENST00000258229.9	-	32	5932	c.5698C>T	c.(5698-5700)Ccg>Tcg	p.P1900S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P552S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1900						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCACCACTCGGGGCATTGTTG	0.627																																																	0								ENSG00000135749						46	48	47					1																	233134090		2019	4184	6203	PCNXL2	SO:0001583	missense	0			-	HGNC	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5698C>T	1.37:g.233134090G>A	ENSP00000258229:p.Pro1900Ser	Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP							pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.P1900S	ENST00000258229.9	37	c.5698	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732618	0.30684	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.22743	1.94;3.12	5.71	3.57	0.40892	.	0.687007	0.14661	N	0.305999	T	0.10165	0.0249	N	0.19112	0.55	0.20975	N	0.999818	B;B	0.15473	0.013;0.002	B;B	0.09377	0.004;0.003	T	0.27123	-1.0083	10	0.18276	T	0.48	.	2.0288	0.03525	0.1107:0.1531:0.3358:0.4004	.	1900;552	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	552;1900	ENSP00000340759:P552S;ENSP00000258229:P1900S	ENSP00000258229:P1900S	P	-	1	0	PCNXL2	231200713	0.049000	0.20398	0.091000	0.20842	0.061000	0.15899	0.163000	0.16520	1.382000	0.46385	0.563000	0.77884	CCG	-	NULL		0.627	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	G	NM_014801	-		233134090	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	SNP	0.005	A	A	233134090	G	A	233134090	3	1	112	1	0	0	0	0	1	0	0	0	11594	1232	43	2	727	2	PCNXL2	1	233134090	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	565981	233134090	16116531	109	7604											
PCNXL2	80003	genome.wustl.edu	37	chr1	233335983	233335983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgggaagagcccaaggaggGaaatagcagggaagcaatat	16	6	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:233335983G>A	ENST00000258229.9	-	14	3125	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	PCNXL2_ENST00000488780.2_Missense_Mutation_p.S97F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	964						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCAAGGAGGGAAATAGCAGG	0.423																																																	0								ENSG00000135749						52	50	50					1																	233335983		1876	4098	5974	PCNXL2	SO:0001583	missense	0			-	HGNC	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2891C>T	1.37:g.233335983G>A	ENSP00000258229:p.Ser964Phe	Somatic	0	113	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	61	38.61	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP							pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.S964F	ENST00000258229.9	37	c.2891	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181169	0.21787	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351	T;T;T	0.46063	0.88;0.88;0.88	5.46	5.46	0.80206	.	.	.	.	.	T	0.25494	0.0620	N	0.10645	0.015	0.80722	D	1	B	0.27140	0.169	B	0.20577	0.03	T	0.08554	-1.0716	8	.	.	.	.	19.3001	0.94141	0.0:0.0:1.0:0.0	.	964	A6NKB5	PCX2_HUMAN	F	964;97;133	ENSP00000258229:S964F;ENSP00000430820:S97F;ENSP00000429231:S133F	.	S	-	2	0	PCNXL2	231402606	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.241000	0.72369	2.565000	0.86533	0.650000	0.86243	TCC	-	NULL		0.423	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	G	NM_014801	-		233335983	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	SNP	1.000	A	A	233335983	G	A	233335983	3	1	112	1	0	0	0	0	1	0	0	0	11594	1174	41	2	3606	2	PCNXL2	1	233335983	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	201893	233335983	15914638	110	7605											
ZP4	57829	genome.wustl.edu	37	chr1	238050814	238050814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtggcgaggtcacgttccGagacacagcaatagagaaat	13	8	1	2	rs374676601		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:238050814G>A	ENST00000366570.4	-	5	759	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	201	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCACGTTCCGAGACACAGCA	0.527																																					NSCLC(166;160 2029 11600 18754 19936)												0								ENSG00000116996	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	133	118	123		601	1.3	0.9	1		123	0,8600		0,0,4300	no	missense	ZP4	NM_021186.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	201/541	238050814	1,13005	2203	4300	6503	ZP4	SO:0001583	missense	0			-	HGNC	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.601C>T	1.37:g.238050814G>A	ENSP00000355529:p.Arg201Trp	Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2RAE1	Missense_Mutation	SNP							pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R201W	ENST00000366570.4	37	c.601	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310835	0.60414	2.27E-4	0.0	ENSG00000116996	ENST00000366570	D	0.83250	-1.7	4.86	1.33	0.21861	Zona pellucida sperm-binding protein (3);	0.149436	0.41500	D	0.000866	D	0.89712	0.6794	M	0.89287	3.02	0.33177	D	0.549011	D	0.89917	1.0	D	0.72338	0.977	D	0.89063	0.3464	10	0.87932	D	0	-18.2754	6.1792	0.20461	0.0955:0.0:0.341:0.5634	.	201	Q12836	ZP4_HUMAN	W	201	ENSP00000355529:R201W	ENSP00000355529:R201W	R	-	1	2	ZP4	236117437	0.000000	0.05858	0.907000	0.35723	0.824000	0.46624	-0.113000	0.10774	0.408000	0.25621	0.655000	0.94253	CGG	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.527	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	protein_coding	OTTHUMT00000095476.1	G		-		238050814	-1	no_errors	ENST00000366570	ensembl	human	known	74_37	missense	SNP	0.563	A	A	238050814	G	A	238050814	3	1	112	1	0	0	0	0	1	0	0	0	18225	1057	37	1	1053	1	ZP4	1	238050814	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4714831	238050814	11199807	111	7606											
FMN2	56776	genome.wustl.edu	37	chr1	240371408	240371408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcgggcataccccctcCgccccctctacccggagtgg	12	19	1	0	rs370099468	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:240371408C>T	ENST00000319653.9	+	5	3526	c.3296C>T	c.(3295-3297)cCg>cTg	p.P1099L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTA	0.731													-|||	6	0.00119808	0.0045	0	5008	,	,		3202	0		0	False		,,,				2504	0																0								ENSG00000155816	C	LEU/PRO	6,3986		0,6,1990	6	8	7		3296	3	0	1		7	1,8095		0,1,4047	no	missense	FMN2	NM_020066.4	98	0,7,6037	TT,TC,CC		0.0124,0.1503,0.0579	benign	1099/1723	240371408	7,12081	1996	4048	6044	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3296C>T	1.37:g.240371408C>T	ENSP00000318884:p.Pro1099Leu	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1099L	ENST00000319653.9	37	c.3296	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038711	0.19669	0.001503	1.24E-4	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.0	3.0	0.34707	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.52532	U	0.000066	T	0.63295	0.2499	M	0.86740	2.835	0.49798	D	0.999825	B	0.29766	0.256	B	0.19148	0.024	T	0.67987	-0.5528	9	.	.	.	.	14.0458	0.64704	0.0:1.0:0.0:0.0	.	1099	Q9NZ56	FMN2_HUMAN	L	1099	ENSP00000318884:P1099L	.	P	+	2	0	FMN2	238438031	0.195000	0.23338	0.004000	0.12327	0.004000	0.04260	3.341000	0.52151	1.675000	0.50919	0.484000	0.47621	CCG	-	pfam_Formin_homology_1,smart_FH2_Formin		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	C	XM_371352	-		240371408	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	0.476	T	T	240371408	C	T	240371408	3	4	112	1	0	0	0	0	1	0	0	0	5952	652	23	1	3314	1	FMN2	1	240371408	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2320594	240371408	8879213	112	7607											
FMN2	56776	genome.wustl.edu	37	chr1	240371671	240371671	+	Missense_Mutation	SNP	C	C	A													ctggagtgggaatacctcctCcgccccctctacctggagtg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:240371671C>A	ENST00000319653.9	+	5	3789	c.3559C>A	c.(3559-3561)Ccg>Acg	p.P1187T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1187	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1330A(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATACCTCCTCCGCCCCCTCT	0.677																																																	1	Substitution - Missense(1)	NS(1)						ENSG00000155816						15	17	16					1																	240371671		2200	4295	6495	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3559C>A	1.37:g.240371671C>A	ENSP00000318884:p.Pro1187Thr	Somatic	0	142	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	139	18.71	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1187T	ENST00000319653.9	37	c.3559	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	c	5.625	0.300023	0.10622	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	3.58	1.6	0.23607	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.71753	0.3377	M	0.80028	2.48	0.58432	D	0.999996	D	0.69078	0.997	D	0.64144	0.922	T	0.67639	-0.5619	8	.	.	.	.	3.7812	0.08682	0.194:0.5897:0.0:0.2162	.	1187	Q9NZ56	FMN2_HUMAN	T	1187	ENSP00000318884:P1187T	.	P	+	1	0	FMN2	238438294	0.996000	0.38824	0.001000	0.08648	0.008000	0.06430	3.264000	0.51553	0.189000	0.20188	0.471000	0.43371	CCG	-	pfam_Formin_homology_1,smart_FH2_Formin		0.677	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	C	XM_371352	-		240371671	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	0.668	A	A	240371671	C	A	240371671	3	1	112	1	0	0	0	0	1	0	0	0	5952	855	30	3	3577	3	FMN2	1	240371671	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	263	240371671	8878950	113	7608	111	2									
FMN2	56776	genome.wustl.edu	37	chr1	240371672	240371672	+	Missense_Mutation	SNP	C	C	T													tggagtgggaatacctcctcCgccccctctacctggagtgg					rs372947608		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:240371672C>T	ENST00000319653.9	+	5	3790	c.3560C>T	c.(3559-3561)cCg>cTg	p.P1187L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1187	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCTCCTCCGCCCCCTCTA	0.677													c|||	1	0.000199681	8e-04	0	5008	,	,		6515	0		0	False		,,,				2504	0																0								ENSG00000155816	C	LEU/PRO	0,4400		0,0,2200	15	17	16		3560	2.6	0	1		16	3,8587		0,3,4292	no	missense	FMN2	NM_020066.4	98	0,3,6492	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1187/1723	240371672	3,12987	2200	4295	6495	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3560C>T	1.37:g.240371672C>T	ENSP00000318884:p.Pro1187Leu	Somatic	0	141	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	140	18.13	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1187L	ENST00000319653.9	37	c.3560	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	c	10.28	1.305600	0.23736	0.0	3.49E-4	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.58	2.62	0.31277	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.78848	0.4348	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.80279	-0.1449	8	.	.	.	.	11.5305	0.50607	0.0:0.8161:0.1839:0.0	.	1187	Q9NZ56	FMN2_HUMAN	L	1187	ENSP00000318884:P1187L	.	P	+	2	0	FMN2	238438295	0.997000	0.39634	0.002000	0.10522	0.006000	0.05464	5.201000	0.65163	0.668000	0.31126	0.471000	0.43371	CCG	-	pfam_Formin_homology_1,smart_FH2_Formin		0.677	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	C	XM_371352	-		240371672	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	0.677	T	T	240371672	C	T	240371672	3	4	112	1	0	0	0	0	1	0	0	0	5952	652	23	1	3578	1	FMN2	1	240371672	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	240371672	8878949	114	7609	111	2									
NLRP3	114548	genome.wustl.edu	37	chr1	247587615	247587615	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccacccatccacaagatCgtgagaaaaccctccagaat	5	15	0	3	rs200900704		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:247587615C>T	ENST00000336119.3	+	3	1616	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_ENST00000391827.2_Silent_p.I290I|NLRP3_ENST00000366496.2_Silent_p.I290I|NLRP3_ENST00000348069.2_Silent_p.I290I|NLRP3_ENST00000391828.3_Silent_p.I290I|NLRP3_ENST00000366497.2_Silent_p.I290I|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	290	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCACAAGATCGTGAGAAAAC	0.562																																																	0								ENSG00000162711						71	72	72					1																	247587615		2203	4300	6503	NLRP3	SO:0001819	synonymous_variant	0			-	HGNC	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.870C>T	1.37:g.247587615C>T		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I290	ENST00000336119.3	37	c.870	CCDS1632.1	1																																																																																			-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	protein_coding	OTTHUMT00000097740.1	C	NM_004895	rs200900704		247587615	1	no_errors	ENST00000336119	ensembl	human	known	74_37	silent	SNP	0.043	T	T	247587615	C	T	247587615	2	4	112	1	0	0	0	0	0	0	0	1	10480	874	31	1		1	NLRP3	1	247587615	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7215943	247587615	1663006	115	7610											
TRIM58	25893	genome.wustl.edu	37	chr1	248023942	248023942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctccagatggctctggaActtatgaggaaagagttgga	13	6	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248023942A>G	ENST00000366481.3	+	2	492	c.444A>G	c.(442-444)gaA>gaG	p.E148E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	148						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCTCTGGAACTTATGAGGA	0.478																																																	0								ENSG00000162722						94	90	91					1																	248023942		2203	4300	6503	TRIM58	SO:0001819	synonymous_variant	0			-	HGNC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.444A>G	1.37:g.248023942A>G		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	Q6B0H9	Silent	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E148	ENST00000366481.3	37	c.444	CCDS1636.1	1																																																																																			-	NULL		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	protein_coding	OTTHUMT00000096860.1	A	NM_015431	-		248023942	1	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	SNP	0.026	G	G	248023942	A	G	248023942	2	3	112	1	0	0	0	0	0	0	0	1	16538	40	2	5		5	TRIM58	1	248023942	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	436327	248023942	1226679	116	7611											
OR2T8	343172	genome.wustl.edu	37	chr1	248084342	248084342	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaaatgggagctatacctCttatttcattctcctaggac	8	9	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248084342C>T	ENST00000319968.4	+	1	23	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTATACCTCTTATTTCATT	0.408																																																	0								ENSG00000177462						113	108	110					1																	248084342		2203	4300	6503	OR2T8	SO:0001583	missense	0			-	HGNC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.23C>T	1.37:g.248084342C>T	ENSP00000326225:p.Ser8Phe	Somatic	0	124	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	56	37.78		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S8F	ENST00000319968.4	37	c.23	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581274	0.28180	.	.	ENSG00000177462	ENST00000319968	T	0.00462	7.26	3.65	3.65	0.41850	.	1.930820	0.03577	U	0.229614	T	0.00998	0.0033	M	0.80746	2.51	0.09310	N	1	B	0.22800	0.075	B	0.31337	0.128	T	0.58075	-0.7700	10	0.72032	D	0.01	.	14.2676	0.66129	0.0:1.0:0.0:0.0	.	8	A6NH00	OR2T8_HUMAN	F	8	ENSP00000326225:S8F	ENSP00000326225:S8F	S	+	2	0	OR2T8	246150965	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.083000	0.30815	1.874000	0.54306	0.603000	0.83216	TCT	-	NULL		0.408	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	protein_coding	OTTHUMT00000096862.1	C	NM_001005522	-		248084342	1	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	SNP	0.016	T	T	248084342	C	T	248084342	3	4	112	1	0	0	0	0	1	0	0	0	11032	913	32	2	25	2	OR2T8	1	248084342	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	60400	248084342	1166279	117	7612											
OR2L2	26246	genome.wustl.edu	37	chr1	248201652	248201652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggccttttcgtattcaCcctcatttttctcattttcc	3	12	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248201652C>T	ENST00000366479.2	+	1	179	c.83C>T	c.(82-84)aCc>aTc	p.T28I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			TTCGTATTCACCCTCATTTTT	0.373																																																	0								ENSG00000203663						190	182	185					1																	248201652		2203	4300	6503	OR2L2	SO:0001583	missense	0			-	HGNC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.83C>T	1.37:g.248201652C>T	ENSP00000355435:p.Thr28Ile	Somatic	1	164	0.61		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	110	23.08	Q2M3T5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T28I	ENST00000366479.2	37	c.83	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	0.263	-0.998297	0.02145	.	.	ENSG00000203663	ENST00000366479	T	0.00348	8.0	1.97	-2.92	0.05615	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07009	-1.0795	8	0.08837	T	0.75	.	6.5991	0.22691	0.0:0.2866:0.0:0.7134	.	28	Q8NH16	OR2L2_HUMAN	I	28	ENSP00000355435:T28I	ENSP00000355435:T28I	T	+	2	0	OR2L2	246268275	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.403000	0.02497	-0.922000	0.03789	0.194000	0.17425	ACC	-	prints_GPCR_Rhodpsn		0.373	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	protein_coding	OTTHUMT00000096871.1	C	NM_001004686	-		248201652	1	no_errors	ENST00000366479	ensembl	human	known	74_37	missense	SNP	0.000	T	T	248201652	C	T	248201652	3	4	112	1	0	0	0	0	1	0	0	0	11009	507	18	2	85	2	OR2L2	1	248201652	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	117310	248201652	1048969	118	7613											
OR2M7	391196	genome.wustl.edu	37	chr1	248487739	248487739	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtagatgaggagaaccatGatggagtttcccatgaaggc	14	6	0	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248487739G>A	ENST00000317965.2	-	1	160	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	44						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(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGAGAACCATGATGGAGTTTC	0.532																																																	0								ENSG00000177186						289	277	281					1																	248487739		2203	4300	6503	OR2M7	SO:0001819	synonymous_variant	0			-	HGNC	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.132C>T	1.37:g.248487739G>A		Somatic	0	141	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	69	36.36	B2RNL0|Q6IEX6	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I44	ENST00000317965.2	37	c.132	CCDS31111.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	protein_coding	OTTHUMT00000097357.1	G	NM_001004691	-		248487739	-1	no_errors	ENST00000317965	ensembl	human	known	74_37	silent	SNP	0.000	A	A	248487739	G	A	248487739	2	1	112	1	0	0	0	0	0	0	0	1	11016	1280	45	2		2	OR2M7	1	248487739	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	286087	248487739	762882	119	7614											
OR2T1	26696	genome.wustl.edu	37	chr1	248569723	248569723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggatcaaaggaccatttCctttgtggggtgcacagctc	12	10	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248569723C>T	ENST00000366474.1	+	1	428	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AGGACCATTTCCTTTGTGGGG	0.473																																																	0								ENSG00000175143						183	175	178					1																	248569723		2203	4300	6503	OR2T1	SO:0001583	missense	0			-	HGNC	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.428C>T	1.37:g.248569723C>T	ENSP00000355430:p.Ser143Phe	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	Q6IEZ9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S143F	ENST00000366474.1	37	c.428	CCDS31115.1	1	.	.	.	.	.	.	.	.	.	.	c	19.41	3.823002	0.71028	.	.	ENSG00000175143	ENST00000366474	T	0.00745	5.75	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.219930	0.23148	U	0.051396	T	0.02156	0.0067	M	0.82630	2.6	0.41796	D	0.989896	B	0.28667	0.219	B	0.30782	0.12	T	0.43798	-0.9369	10	0.87932	D	0	.	16.6928	0.85326	0.0:1.0:0.0:0.0	.	143	O43869	OR2T1_HUMAN	F	143	ENSP00000355430:S143F	ENSP00000355430:S143F	S	+	2	0	OR2T1	246636346	0.134000	0.22483	0.993000	0.49108	0.989000	0.77384	3.245000	0.51407	2.462000	0.83206	0.650000	0.86243	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	protein_coding	OTTHUMT00000097346.2	C		-		248569723	1	no_errors	ENST00000366474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	248569723	C	T	248569723	3	4	112	1	0	0	0	0	1	0	0	0	11018	855	30	2	430	2	OR2T1	1	248569723	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	81984	248569723	680898	120	7615											
SNTG2	54221	genome.wustl.edu	37	chr2	1371201	1371201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctccgtggaccccggcttCatggacagtcagagtcttgc	12	14	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:1371201C>T	ENST00000308624.5	+	17	1704	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	SNTG2_ENST00000407292.1_Silent_p.F398F	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	525					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACCCCGGCTTCATGGACAGTC	0.468																																																	0								ENSG00000172554						41	41	41					2																	1371201		692	1591	2283	SNTG2	SO:0001819	synonymous_variant	0			-	HGNC	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1575C>T	2.37:g.1371201C>T		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q05AH5	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F525	ENST00000308624.5	37	c.1575	CCDS46220.1	2																																																																																			-	NULL		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	protein_coding	OTTHUMT00000322454.1	C	NM_018968	-		1371201	1	no_errors	ENST00000308624	ensembl	human	known	74_37	silent	SNP	0.071	T	T	1371201	C	T	1371201	2	4	112	1	0	0	0	0	0	0	0	1	14883	825	29	2		2	SNTG2	2	1371201	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		1371201	241828172	121	7616											
TPO	7173	genome.wustl.edu	37	chr2	1488383	1488383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagatcatcaccctgaggGattacatccccaggatcctg	8	14	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:1488383G>A	ENST00000345913.4	+	9	1445	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.D452N|TPO_ENST00000382198.1_Missense_Mutation_p.D279N|TPO_ENST00000349624.3_Missense_Mutation_p.D279N|TPO_ENST00000346956.3_Missense_Mutation_p.D452N|TPO_ENST00000329066.4_Missense_Mutation_p.D452N|TPO_ENST00000382201.3_Missense_Mutation_p.D452N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	452					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)	CACCCTGAGGGATTACATCCC	0.577																																																	0								ENSG00000115705						58	54	55					2																	1488383		2203	4300	6503	TPO	SO:0001583	missense	0			-	HGNC		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.1354G>A	2.37:g.1488383G>A	ENSP00000318820:p.Asp452Asn	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.D452N	ENST00000345913.4	37	c.1354	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052746|3.052746	0.55218|0.55218	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464|ENST00000536482	T;T;T;T;T;T;T;T|.	0.73897|.	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81795|0.81795	0.4898|0.4898	M|M	0.84846|0.84846	2.72|2.72	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|.	0.83275|.	0.983;0.996;0.988;0.99|.	T|T	0.81404|0.81404	-0.0948|-0.0948	10|6	0.72032|0.33141	D|T	0.01|0.24	-18.7255|-18.7255	18.6504|18.6504	0.91429|0.91429	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	452;279;452;452|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	N|E	452;452;452;279;452;452;279;381|135	ENSP00000337263:D452N;ENSP00000318820:D452N;ENSP00000263886:D452N;ENSP00000332044:D279N;ENSP00000329869:D452N;ENSP00000371636:D452N;ENSP00000371633:D279N;ENSP00000405788:D381N|.	ENSP00000329869:D452N|ENSP00000439133:G135E	D|G	+|+	1|2	0|0	TPO|TPO	1467390|1467390	1.000000|1.000000	0.71417|0.71417	0.281000|0.281000	0.24762|0.24762	0.025000|0.025000	0.11179|0.11179	6.187000|6.187000	0.72039|0.72039	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	GAT|GGA	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	protein_coding	OTTHUMT00000206594.2	G	NM_000547	-		1488383	1	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1488383	G	A	1488383	3	1	112	1	0	0	0	0	1	0	0	0	16417	1174	41	2	1384	2	TPO	2	1488383	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	117182	1488383	241710990	122	7617											
PXDN	7837	genome.wustl.edu	37	chr2	1652740	1652740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgctgcacgatgccctGccgcagcaggccgcggtggc	16	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:1652740G>T	ENST00000252804.4	-	17	2862	c.2812C>A	c.(2812-2814)Cag>Aag	p.Q938K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	938					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACGATGCCCTGCCGCAGCAGG	0.697																																																	0								ENSG00000130508						12	14	13					2																	1652740		1785	3799	5584	PXDN	SO:0001583	missense	0			-	HGNC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2812C>A	2.37:g.1652740G>T	ENSP00000252804:p.Gln938Lys	Somatic	0	13	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Q938K	ENST00000252804.4	37	c.2812	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553355	0.45487	.	.	ENSG00000130508	ENST00000252804	T	0.72615	-0.67	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	L	0.37750	1.13	0.58432	D	0.999997	B	0.21381	0.055	B	0.21360	0.034	T	0.58375	-0.7647	10	0.07644	T	0.81	-42.1476	19.8119	0.96549	0.0:0.0:1.0:0.0	.	938	Q92626	PXDN_HUMAN	K	938	ENSP00000252804:Q938K	ENSP00000252804:Q938K	Q	-	1	0	PXDN	1631747	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	9.757000	0.98924	2.683000	0.91414	0.558000	0.71614	CAG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.697	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	protein_coding	OTTHUMT00000322505.1	G	XM_056455	-		1652740	-1	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1652740	G	T	1652740	3	4	112	1	0	0	0	0	1	0	0	0	12855	1328	46	3	1655	3	PXDN	2	1652740	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	164357	1652740	241546633	123	7618											
RPS7	6201	genome.wustl.edu	37	chr2	3624141	3624141	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccgttcctcaactgaaatCtttccagaaaatccaagtcc	4	14	2	2	rs138049462		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:3624141C>G	ENST00000304921.5	+	4	376	c.212C>G	c.(211-213)tCt>tGt	p.S71C	RPS7_ENST00000403564.1_Missense_Mutation_p.S71C|RPS7_ENST00000406376.1_Missense_Mutation_p.S71C|RPS7_ENST00000407445.3_Missense_Mutation_p.S71C	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	71					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CAACTGAAATCTTTCCAGAAA	0.413																																																	0								ENSG00000171863						118	128	124					2																	3624141		2203	4293	6496	RPS7	SO:0001583	missense	0			-	HGNC		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"S ribosomal proteins"	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.212C>G	2.37:g.3624141C>G	ENSP00000339095:p.Ser71Cys	Somatic	0	152	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	130	13.91	P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP							pfam_Ribosomal_S7e	p.S71C	ENST00000304921.5	37	c.212	CCDS1648.1	2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231548	0.58777	.	.	ENSG00000171863	ENST00000304921;ENST00000407445;ENST00000403564;ENST00000406376	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	U	0.000000	T	0.67748	0.2926	M	0.69248	2.105	0.58432	D	0.999998	B;B	0.19200	0.034;0.002	B;B	0.27262	0.078;0.03	T	0.70612	-0.4824	9	0.87932	D	0	.	15.8877	0.79264	0.0:1.0:0.0:0.0	.	71;71	B5MCP9;P62081	.;RS7_HUMAN	C	71	.	ENSP00000339095:S71C	S	+	2	0	RPS7	3602016	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.594000	0.82698	2.030000	0.59900	0.563000	0.77884	TCT	-	pfam_Ribosomal_S7e		0.413	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS7	protein_coding	OTTHUMT00000206667.1	C	NM_001011	-		3624141	1	no_errors	ENST00000304921	ensembl	human	known	74_37	missense	SNP	1.000	G	G	3624141	C	G	3624141	3	3	112	1	0	0	0	0	1	0	0	0	13668	913	32	4	222	4	RPS7	2	3624141	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1971401	3624141	239575232	124	7619											
MSGN1	343930	genome.wustl.edu	37	chr2	17997809	17997809	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaacctgcgcgagactttCctcagcctcgaggatggctt	11	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:17997809C>T	ENST00000281047.3	+	1	47	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	8					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCGAGACTTTCCTCAGCCTCG	0.602																																					Melanoma(127;325 1712 14802 40657 49130)												0								ENSG00000151379						32	34	33					2																	17997809		1943	4164	6107	MSGN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.24C>T	2.37:g.17997809C>T		Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58		Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F8	ENST00000281047.3	37	c.24	CCDS42657.1	2																																																																																			-	NULL		0.602	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	protein_coding	OTTHUMT00000353253.1	C	XM_292850	-		17997809	1	no_errors	ENST00000281047	ensembl	human	known	74_37	silent	SNP	0.501	T	T	17997809	C	T	17997809	2	4	112	1	0	0	0	0	0	0	0	1	9871	854	30	2		2	MSGN1	2	17997809	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	14373668	17997809	225201564	125	7620											
APOB	338	genome.wustl.edu	37	chr2	21235194	21235194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctcaggttggactctcCattgagccggccagtgttag	11	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:21235194C>T	ENST00000233242.1	-	26	4673	c.4546G>A	c.(4546-4548)Gga>Aga	p.G1516R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1516					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)					TTGGACTCTCCATTGAGCCGG	0.498																																																	0								ENSG00000084674						129	127	128					2																	21235194		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.4546G>A	2.37:g.21235194C>T	ENSP00000233242:p.Gly1516Arg	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G1516R	ENST00000233242.1	37	c.4546	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184813	0.57909	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.88	5.88	0.94601	.	0.107343	0.41097	D	0.000960	T	0.04092	0.0114	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.41502	-0.9505	10	0.59425	D	0.04	.	13.4381	0.61096	0.0:0.9288:0.0:0.0712	.	1516	P04114	APOB_HUMAN	R	1516	ENSP00000233242:G1516R	ENSP00000233242:G1516R	G	-	1	0	APOB	21088699	0.953000	0.32496	0.850000	0.33497	0.368000	0.29767	3.746000	0.55127	2.782000	0.95742	0.655000	0.94253	GGA	-	NULL		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21235194	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.951	T	T	21235194	C	T	21235194	3	4	112	1	0	0	0	0	1	0	0	0	785	603	21	2	9161	2	APOB	2	21235194	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3237385	21235194	221964179	126	7621											
ITSN2	50618	genome.wustl.edu	37	chr2	24507680	24507680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttagcagagacaaaagGcactgaagaacagagtcatc	10	9	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:24507680G>A	ENST00000355123.4	-	17	2339	c.1896C>T	c.(1894-1896)tgC>tgT	p.C632C	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Silent_p.C632C	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	632					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGACAAAAGGCACTGAAGAA	0.313																																																	0								ENSG00000198399						117	118	117					2																	24507680		2203	4300	6503	ITSN2	SO:0001819	synonymous_variant	0			-	HGNC	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1896C>T	2.37:g.24507680G>A		Somatic	0	265	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	134	131	50.57	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.C632	ENST00000355123.4	37	c.1896	CCDS1710.2	2																																																																																			-	NULL		0.313	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	protein_coding	OTTHUMT00000207620.2	G	NM_006277	-		24507680	-1	no_errors	ENST00000355123	ensembl	human	known	74_37	silent	SNP	1.000	A	A	24507680	G	A	24507680	2	1	112	1	0	0	0	0	0	0	0	1	7929	1195	42	2		2	ITSN2	2	24507680	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3272486	24507680	218691693	127	7622											
GPR113	165082	genome.wustl.edu	37	chr2	26532944	26532944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggggcttgggcgcgGcagaagcgtttgcgcaaagc	19	9	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:26532944G>A	ENST00000311519.1	-	13	3107	c.3108C>T	c.(3106-3108)tgC>tgT	p.C1036C	GPR113_ENST00000541401.1_Silent_p.C639C|GPR113_ENST00000333478.6_Silent_p.C837C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.C967C	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1036					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCGCGGCAGAAGCGTT	0.607																																																	0								ENSG00000173567						86	87	87					2																	26532944		2203	4300	6503	GPR113	SO:0001819	synonymous_variant	0			-	HGNC	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3108C>T	2.37:g.26532944G>A		Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	21	60.38	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.C837	ENST00000311519.1	37	c.2511	CCDS46239.1	2																																																																																			-	NULL		0.607	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	protein_coding	OTTHUMT00000316892.1	G	NM_153835	-		26532944	-1	no_errors	ENST00000333478	ensembl	human	known	74_37	silent	SNP	0.801	A	A	26532944	G	A	26532944	2	1	112	1	0	0	0	0	0	0	0	1	6632	1195	42	2		2	GPR113	2	26532944	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2025264	26532944	216666429	128	7623											
SLC5A6	8884	genome.wustl.edu	37	chr2	27428924	27428924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacggtacagacaatgccCagggccagcacggacagcca	12	13	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:27428924C>T	ENST00000310574.3	-	6	1022	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.L183L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	183					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGACAATGCCCAGGGCCAGCA	0.547																																																	0								ENSG00000138074						99	88	92					2																	27428924		2203	4300	6503	SLC5A6	SO:0001819	synonymous_variant	0			-	HGNC	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.549G>A	2.37:g.27428924C>T		Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	24	50.00	B2RB85|D6W549|Q969Y5	Silent	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L183	ENST00000310574.3	37	c.549	CCDS1740.1	2																																																																																			-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.547	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	protein_coding	OTTHUMT00000214194.1	C	NM_021095	-		27428924	-1	no_errors	ENST00000310574	ensembl	human	known	74_37	silent	SNP	0.704	T	T	27428924	C	T	27428924	2	4	112	1	0	0	0	0	0	0	0	1	14677	581	21	2		2	SLC5A6	2	27428924	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	895980	27428924	215770449	129	7624											
C2orf16	84226	genome.wustl.edu	37	chr2	27800241	27800241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatatgaagggattactccgGaactcaagcattactttaca	7	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:27800241G>A	ENST00000408964.2	+	1	853	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	268						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GATTACTCCGGAACTCAAGCA	0.463																																																	0								ENSG00000221843						89	88	88					2																	27800241		1930	4132	6062	C2orf16	SO:0001583	missense	0			-	HGNC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.802G>A	2.37:g.27800241G>A	ENSP00000386190:p.Glu268Lys	Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP							NULL	p.E268K	ENST00000408964.2	37	c.802	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805169	0.50315	.	.	ENSG00000221843	ENST00000408964	T	0.09073	3.02	4.71	0.692	0.18050	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	P	0.42518	0.782	B	0.35278	0.199	T	0.39440	-0.9614	9	0.16420	T	0.52	.	4.5402	0.12054	0.2748:0.1651:0.5601:0.0	.	268	Q68DN1	CB016_HUMAN	K	268	ENSP00000386190:E268K	ENSP00000386190:E268K	E	+	1	0	C2orf16	27653745	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.253000	0.18296	-0.057000	0.13199	0.563000	0.77884	GAA	-	NULL		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	protein_coding	OTTHUMT00000353292.1	G	NM_032266	-		27800241	1	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	SNP	0.000	A	A	27800241	G	A	27800241	3	1	112	1	0	0	0	0	1	0	0	0	2159	1175	41	2	804	2	C2orf16	2	27800241	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	371317	27800241	215399132	130	7625											
SLC8A1	6546	genome.wustl.edu	37	chr2	40405534	40405534	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagctcccccacctttcttCtcactcatctccaccaggcg	5	20	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:40405534C>T	ENST00000403092.1	-	3	1941	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E	SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.E636E|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.E636E|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.E636E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	636					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACCTTTCTTCTCACTCATCT	0.512																																																	0								ENSG00000183023						146	152	150					2																	40405534		2203	4300	6503	SLC8A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1908G>A	2.37:g.40405534C>T		Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.E636	ENST00000403092.1	37	c.1908	CCDS1806.1	2																																																																																			-	tigrfam_Na_Ca_Ex		0.512	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	protein_coding	OTTHUMT00000326065.1	C	NM_021097	-		40405534	-1	no_errors	ENST00000332839	ensembl	human	known	74_37	silent	SNP	1.000	T	T	40405534	C	T	40405534	2	4	112	1	0	0	0	0	0	0	0	1	14714	912	32	2		2	SLC8A1	2	40405534	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12605293	40405534	202793839	131	7626											
GTF2A1L	11036	genome.wustl.edu	37	chr2	48873756	48873756	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtctcttcaagcaactactGaaaaatcacagagaattgaa	7	8	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:48873756G>A	ENST00000403751.3	+	6	590	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E889K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E889K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E842K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E889K|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E151K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E889K	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	185					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAACTACTGAAAAATCACA	0.418																																																	0								ENSG00000068781						90	88	89					2																	48873756		2203	4300	6503	STON1-GTF2A1L	SO:0001583	missense	0			-	HGNC	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"TFIIA alpha/beta like factor"	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.553G>A	2.37:g.48873756G>A	ENSP00000384597:p.Glu185Lys	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP							pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.E889K	ENST00000403751.3	37	c.2665	CCDS46281.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329166	0.81690	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T	0.51071	2.93;2.91;2.93;2.93;3.11;1.02;0.72	5.29	4.42	0.53409	.	0.392324	0.23782	N	0.044614	T	0.66896	0.2836	M	0.78049	2.395	0.80722	D	1	D;B;B;D;B	0.71674	0.998;0.02;0.339;0.992;0.043	D;B;B;P;B	0.80764	0.994;0.011;0.187;0.883;0.043	T	0.70124	-0.4958	10	0.66056	D	0.02	.	11.0337	0.47789	0.0861:0.0:0.9139:0.0	.	151;842;889;185;889	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	K	889;889;889;889;842;184;151;194;151;185	ENSP00000385499:E889K;ENSP00000385701:E889K;ENSP00000378236:E889K;ENSP00000311493:E889K;ENSP00000378234:E842K;ENSP00000412645:E151K;ENSP00000396702:E194K	ENSP00000384597:E185K	E	+	1	0	STON1-GTF2A1L;GTF2A1L	48727260	1.000000	0.71417	0.136000	0.22124	0.978000	0.69477	2.801000	0.47908	1.472000	0.48140	0.591000	0.81541	GAA	-	pfam_TFIIA_asu/bsu		0.418	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	protein_coding	OTTHUMT00000323852.4	G	NM_006872	-		48873756	1	no_errors	ENST00000309827	ensembl	human	known	74_37	missense	SNP	0.760	A	A	48873756	G	A	48873756	3	1	112	1	0	0	0	0	1	0	0	0	6855	1291	45	2	575	2	GTF2A1L	2	48873756	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8468222	48873756	194325617	132	7627											
LHCGR	3973	genome.wustl.edu	37	chr2	48950635	48950635	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcccttgaaaagcatttcCtggtatggtggttatgtgta	10	7	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:48950635C>A	ENST00000294954.7	-	6	517	c.496G>T	c.(496-498)Gga>Tga	p.G166*	LHCGR_ENST00000401907.1_Nonsense_Mutation_p.G166*|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.G166*|LHCGR_ENST00000403273.1_Nonsense_Mutation_p.G166*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.G166*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	166					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)	p.G166R(1)		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)	AAAGCATTTCCTGGTATGGTG	0.363																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000138039						119	110	113					2																	48950635		2203	4300	6503	LHCGR	SO:0001587	stop_gained	0			-	HGNC		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.496G>T	2.37:g.48950635C>A	ENSP00000294954:p.Gly166*	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	41	36.92	Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.G166*	ENST00000294954.7	37	c.496	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.380009	0.97520	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	.	.	.	5.62	3.83	0.44106	.	0.360553	0.32563	N	0.005939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0279	0.30448	0.0:0.709:0.1411:0.1499	.	.	.	.	X	166;166;166;166;166;132	.	.	G	-	1	0	LHCGR	48804139	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.728000	0.26013	0.860000	0.35481	0.650000	0.86243	GGA	-	NULL		0.363	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	C	NM_000233.3	-		48950635	-1	no_errors	ENST00000294954	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	48950635	C	A	48950635	4	1	112	1	0	0	0	0	0	1	0	0	8764	690	24	3	1627	3	LHCGR	2	48950635	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	76879	48950635	194248738	133	7628											
PUS10	150962	genome.wustl.edu	37	chr2	61238942	61238942	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatgaaaatccacaccacaGaatctgaagatacatcttgg	7	10	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:61238942G>A	ENST00000316752.6	-	2	345	c.84C>T	c.(82-84)ttC>ttT	p.F28F	PUS10_ENST00000407787.1_Silent_p.F28F|PUS10_ENST00000398658.2_Silent_p.F28F	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	28					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CCACACCACAGAATCTGAAGA	0.338																																																	0								ENSG00000162927						77	70	73					2																	61238942		2203	4300	6503	PUS10	SO:0001819	synonymous_variant	0			-	HGNC	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.84C>T	2.37:g.61238942G>A		Somatic	0	155	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	113	20.98	Q5JPJ5|Q96MI8	Silent	SNP							superfamily_PsdUridine_synth_cat_dom	p.F28	ENST00000316752.6	37	c.84	CCDS1865.1	2																																																																																			-	NULL		0.338	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	protein_coding	OTTHUMT00000251582.2	G	NM_144709	-		61238942	-1	no_errors	ENST00000316752	ensembl	human	known	74_37	silent	SNP	1.000	A	A	61238942	G	A	61238942	2	1	112	1	0	0	0	0	0	0	0	1	12839	933	33	2		2	PUS10	2	61238942	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	12288307	61238942	181960431	134	7629											
UGP2	7360	genome.wustl.edu	37	chr2	64113605	64113605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaaacaacctatggatttCtcttgcagcagttaaaagac	6	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:64113605C>T	ENST00000337130.5	+	7	1480	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	UGP2_ENST00000467648.2_Missense_Mutation_p.S324F|UGP2_ENST00000394417.2_Missense_Mutation_p.S324F|UGP2_ENST00000445915.2_Missense_Mutation_p.S344F|UGP2_ENST00000487469.1_3'UTR	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	335					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTATGGATTTCTCTTGCAGCA	0.408																																																	0								ENSG00000169764						99	104	102					2																	64113605		2203	4300	6503	UGP2	SO:0001583	missense	0			-	HGNC		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1004C>T	2.37:g.64113605C>T	ENSP00000338703:p.Ser335Phe	Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP							pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.S335F	ENST00000337130.5	37	c.1004	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.248974	0.95305	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	6.07	6.07	0.98685	.	0.264561	0.45126	D	0.000391	T	0.39809	0.1092	L	0.61218	1.895	0.80722	D	1	P;B	0.40230	0.708;0.4	P;P	0.49361	0.608;0.608	T	0.04005	-1.0985	10	0.87932	D	0	-27.407	20.6593	0.99626	0.0:1.0:0.0:0.0	.	344;335	E7EUC7;Q16851	.;UGPA_HUMAN	F	324;324;335;344	ENSP00000377939:S324F;ENSP00000420793:S324F;ENSP00000338703:S335F;ENSP00000411803:S344F	ENSP00000338703:S335F	S	+	2	0	UGP2	63967109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	2.885000	0.99019	0.655000	0.94253	TCT	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.408	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	protein_coding	OTTHUMT00000251688.1	C	NM_006759	-		64113605	1	no_errors	ENST00000337130	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64113605	C	T	64113605	3	4	112	1	0	0	0	0	1	0	0	0	16950	913	32	2	1030	2	UGP2	2	64113605	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2874663	64113605	179085768	135	7630											
ADD2	119	genome.wustl.edu	37	chr2	70890802	70890802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgttgaccaccacccCttccggctgggttgtttcgg	10	17	0	1	rs560319503		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:70890802C>T	ENST00000264436.4	-	16	2380	c.1936G>A	c.(1936-1938)Ggg>Agg	p.G646R	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.G646R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	646					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACCACCACCCCTTCCGGCTGG	0.517																																																	0								ENSG00000075340						106	95	99					2																	70890802		2203	4300	6503	ADD2	SO:0001583	missense	0			-	HGNC	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1936G>A	2.37:g.70890802C>T	ENSP00000264436:p.Gly646Arg	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP							pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.G646R	ENST00000264436.4	37	c.1936	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	8.433	0.848992	0.17034	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.47869	0.83;0.83	5.43	5.43	0.79202	.	0.749565	0.13122	N	0.412169	T	0.42426	0.1202	L	0.43152	1.355	0.80722	D	1	B;B	0.31680	0.183;0.335	B;B	0.30495	0.08;0.116	T	0.20806	-1.0264	10	0.16420	T	0.52	-14.9326	17.0925	0.86626	0.0:1.0:0.0:0.0	.	646;646	Q05DK5;P35612	.;ADDB_HUMAN	R	646;646;397	ENSP00000264436:G646R;ENSP00000384677:G646R	ENSP00000264436:G646R	G	-	1	0	ADD2	70744310	0.898000	0.30612	0.844000	0.33320	0.013000	0.08279	4.380000	0.59581	2.698000	0.92095	0.650000	0.86243	GGG	-	NULL		0.517	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	protein_coding	OTTHUMT00000251918.4	C	NM_001617	-		70890802	-1	no_errors	ENST00000264436	ensembl	human	known	74_37	missense	SNP	0.952	T	T	70890802	C	T	70890802	3	4	112	1	0	0	0	0	1	0	0	0	305	681	24	2	248	2	ADD2	2	70890802	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6777197	70890802	172308571	136	7631											
DCTN1	1639	genome.wustl.edu	37	chr2	74592276	74592276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccctcaatcgtgcgtttgGactggctgttcagacgctgc	12	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:74592276G>A	ENST00000361874.3	-	26	3439	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	DCTN1_ENST00000409240.1_Missense_Mutation_p.S1004F|DCTN1_ENST00000409438.1_Missense_Mutation_p.S907F|DCTN1_ENST00000394003.3_Missense_Mutation_p.S1034F|DCTN1_ENST00000409567.3_Missense_Mutation_p.S1021F|DCTN1_ENST00000407639.2_Missense_Mutation_p.S907F|DCTN1_ENST00000409868.1_Missense_Mutation_p.S1024F|DCTN1_ENST00000495643.1_5'Flank|RP11-287D1.3_ENST00000451608.2_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1041					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)			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						CGTGCGTTTGGACTGGCTGTT	0.547																																																	0								ENSG00000204843						148	132	137					2																	74592276		2203	4300	6503	DCTN1	SO:0001583	missense	0			-	HGNC		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.3122C>T	2.37:g.74592276G>A	ENSP00000354791:p.Ser1041Phe	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP							pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.S1041F	ENST00000361874.3	37	c.3122	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802521	0.70682	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.33	5.33	0.75918	.	0.000000	0.42420	D	0.000707	D	0.86518	0.5952	M	0.63843	1.955	0.80722	D	1	D;D;P;D;D;D	0.89917	0.985;0.993;0.94;0.994;1.0;0.965	P;P;P;D;D;P	0.71414	0.862;0.907;0.543;0.928;0.973;0.648	D	0.87321	0.2318	10	0.87932	D	0	-6.6502	17.9526	0.89058	0.0:0.0:1.0:0.0	.	1021;1004;1041;1034;907;907	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	F	1041;1034;1024;907;907;1004;1024;1021	ENSP00000354791:S1041F;ENSP00000377571:S1034F;ENSP00000384844:S907F;ENSP00000387270:S907F;ENSP00000386406:S1004F;ENSP00000387327:S1024F;ENSP00000386843:S1021F	ENSP00000354791:S1041F	S	-	2	0	DCTN1	74445784	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.411000	0.97342	2.771000	0.95319	0.561000	0.74099	TCC	-	superfamily_P-loop_NTPase		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	protein_coding	OTTHUMT00000252227.3	G	NM_004082	-		74592276	-1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74592276	G	A	74592276	3	1	112	1	0	0	0	0	1	0	0	0	4308	1174	41	2	742	2	DCTN1	2	74592276	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3701474	74592276	168607097	137	7632											
CTNNA2	1496	genome.wustl.edu	37	chr2	80835423	80835423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgcagaatctgggaGgagagctcattgtgtcaggg	16	6	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:80835423G>A	ENST00000402739.4	+	16	2415	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G838R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.G483R|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G804R|CTNNA2_ENST00000466387.1_Missense_Mutation_p.G804R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G804R|AC008067.2_ENST00000599412.2_RNA|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	804					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)			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						GAATCTGGGAGGAGAGCTCAT	0.463																																																	0								ENSG00000066032						101	97	98					2																	80835423		1949	4164	6113	CTNNA2	SO:0001583	missense	0			-	HGNC		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.2410G>A	2.37:g.80835423G>A	ENSP00000384638:p.Gly804Arg	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.G838R	ENST00000402739.4	37	c.2512		2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956892	0.73902	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000343114	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.88310	2.945	0.80722	D	1	P;D;P	0.55172	0.686;0.97;0.889	B;P;P	0.57548	0.315;0.823;0.618	T	0.71593	-0.4546	9	.	.	.	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	436;804;804	F6KRI5;P26232;P26232-2	.;CTNA2_HUMAN;.	R	804;804;838;804;804;483	ENSP00000418191:G804R;ENSP00000419295:G804R;ENSP00000355398:G838R;ENSP00000384638:G804R;ENSP00000444675:G804R;ENSP00000341500:G483R	.	G	+	1	0	CTNNA2	80688934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	GGA	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.463	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	protein_coding	OTTHUMT00000328511.4	G	NM_004389	-		80835423	1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80835423	G	A	80835423	3	1	112	1	0	0	0	0	1	0	0	0	4015	1001	35	2	2264	2	CTNNA2	2	80835423	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6243147	80835423	162363950	138	7633											
DNAH6	1768	genome.wustl.edu	37	chr2	85032873	85032873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagggaaaaagcaatgacGaaattgttcaagaacttgtt	11	4	1	3	rs267599484		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:85032873G>A	ENST00000237449.6	+	70	11574	c.11566G>A	c.(11566-11568)Gaa>Aaa	p.E3856K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E3856K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3856					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAGCAATGACGAAATTGTTCA	0.388																																																	0								ENSG00000115423						127	109	115					2																	85032873		692	1591	2283	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11566G>A	2.37:g.85032873G>A	ENSP00000237449:p.Glu3856Lys	Somatic	0	92	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	49	49.48	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3856K	ENST00000237449.6	37	c.11566	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823350	0.90873	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.10382	2.88;2.88	5.65	5.65	0.86999	Dynein heavy chain (1);	0.000000	0.64402	D	0.000015	T	0.16727	0.0402	L	0.52364	1.645	0.80722	D	1	P	0.47962	0.903	P	0.45681	0.49	T	0.00341	-1.1804	10	0.42905	T	0.14	.	17.2148	0.86940	0.0:0.0:1.0:0.0	.	3856	Q9C0G6	DYH6_HUMAN	K	3856	ENSP00000374045:E3856K;ENSP00000237449:E3856K	ENSP00000237449:E3856K	E	+	1	0	DNAH6	84886384	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.966000	0.87956	2.662000	0.90505	0.643000	0.83706	GAA	-	pfam_Dynein_heavy_dom		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	G	NM_001370	-		85032873	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85032873	G	A	85032873	3	1	112	1	0	0	0	0	1	0	0	0	4607	1059	37	1	11844	1	DNAH6	2	85032873	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4197450	85032873	158166500	139	7634											
NCAPH	23397	genome.wustl.edu	37	chr2	97020049	97020049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgactttgatgccaacgaTgaacctgaccacaccgcagt	9	12	0	4	rs3731935	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97020049T>G	ENST00000240423.4	+	9	1174	c.1131T>G	c.(1129-1131)gaT>gaG	p.D377E	NCAPH_ENST00000427946.1_Missense_Mutation_p.D241E|NCAPH_ENST00000455200.1_Missense_Mutation_p.D366E	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	377					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D377D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ATGCCAACGATGAACCTGACC	0.532																																																	1	Substitution - coding silent(1)	stomach(1)						ENSG00000121152						149	144	145					2																	97020049		2203	4300	6503	NCAPH	SO:0001583	missense	0			-	HGNC	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1131T>G	2.37:g.97020049T>G	ENSP00000240423:p.Asp377Glu	Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	72	14.29	B4E189|Q8TB87	Missense_Mutation	SNP							pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.D377E	ENST00000240423.4	37	c.1131	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951831	0.53293	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.58	1.91	0.25777	.	0.068940	0.64402	D	0.000017	T	0.55130	0.1901	M	0.81497	2.545	0.32342	P	0.5596909999999999	P;P;P;D	0.64830	0.928;0.928;0.865;0.994	P;P;P;P	0.57776	0.565;0.565;0.716;0.827	T	0.63963	-0.6518	9	0.40728	T	0.16	-24.4858	8.2104	0.31479	0.0:0.2376:0.0:0.7624	.	353;366;366;377	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	E	377;241;366;366	ENSP00000240423:D377E;ENSP00000400774:D241E;ENSP00000405237:D366E;ENSP00000407308:D366E	ENSP00000240423:D377E	D	+	3	2	NCAPH	96383776	0.998000	0.40836	0.646000	0.29493	0.111000	0.19643	0.478000	0.22212	0.094000	0.17404	0.459000	0.35465	GAT	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2		0.532	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	protein_coding	OTTHUMT00000252842.2	T	NM_015341	-		97020049	1	no_errors	ENST00000240423	ensembl	human	known	74_37	missense	SNP	0.971	G	G	97020049	T	G	97020049	3	3	112	1	0	0	0	0	1	0	0	0	10211	1461	51	5	1165	5	NCAPH	2	97020049	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	11987176	97020049	146179324	140	7635											
KIAA1310	55683	genome.wustl.edu	37	chr2	97267957	97267957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtgggcttcccaccaGgagtggcacccaaggaggag	16	11	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97267957G>A	ENST00000431828.1	-	19	2454	c.2378C>T	c.(2377-2379)cCt>cTt	p.P793L	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.P613L|KANSL3_ENST00000599854.1_Missense_Mutation_p.P706L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	819					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)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTTCCCACCAGGAGTGGCACC	0.627																																																	0								ENSG00000114982						35	37	37					2																	97267957		2043	4195	6238	KANSL3	SO:0001583	missense	0			-	HGNC	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2378C>T	2.37:g.97267957G>A	ENSP00000396749:p.Pro793Leu	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP							NULL	p.P793L	ENST00000431828.1	37	c.2378	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555538	0.86231	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.48201	0.82;0.82	5.66	5.66	0.87406	.	0.170650	0.40469	N	0.001085	T	0.47060	0.1425	N	0.14661	0.345	0.80722	D	1	P;D;B;B;P	0.64830	0.839;0.994;0.447;0.386;0.835	B;P;B;B;P	0.54544	0.264;0.755;0.168;0.058;0.451	T	0.53041	-0.8494	10	0.72032	D	0.01	.	17.2439	0.87021	0.0:0.0:1.0:0.0	.	587;819;793;704;679	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	L	706;679;793;613;587	ENSP00000396749:P793L;ENSP00000406207:P613L	ENSP00000346144:P706L	P	-	2	0	KIAA1310	96631684	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	4.320000	0.59203	2.658000	0.90341	0.655000	0.94253	CCT	-	NULL		0.627	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	protein_coding	OTTHUMT00000339040.2	G	NM_017991	-		97267957	-1	no_errors	ENST00000431828	ensembl	human	known	74_37	missense	SNP	1.000	A	A	97267957	G	A	97267957	3	1	112	1	0	0	0	0	1	0	0	0	8224	1000	35	2	270	2	KIAA1310	2	97267957	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	247908	97267957	145931416	141	7636											
CNNM4	26504	genome.wustl.edu	37	chr2	97427812	97427812	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcgtgaaagaggagcTcaatatgatccagggtgccc	12	10	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97427812T>G	ENST00000377075.2	+	1	1174	c.1076T>G	c.(1075-1077)cTc>cGc	p.L359R		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	359					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AAAGAGGAGCTCAATATGATC	0.512																																																	0								ENSG00000158158						85	76	79					2																	97427812		2203	4300	6503	CNNM4	SO:0001583	missense	0			-	HGNC	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1076T>G	2.37:g.97427812T>G	ENSP00000366275:p.Leu359Arg	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP							pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L359R	ENST00000377075.2	37	c.1076	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000831	0.74818	.	.	ENSG00000158158	ENST00000377075	T	0.72282	-0.64	5.19	5.19	0.71726	.	0.084250	0.49305	D	0.000152	T	0.79592	0.4472	L	0.60455	1.87	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.81994	-0.0677	10	0.87932	D	0	-16.0395	14.0284	0.64599	0.0:0.0:0.0:1.0	.	359	Q6P4Q7	CNNM4_HUMAN	R	359	ENSP00000366275:L359R	ENSP00000366275:L359R	L	+	2	0	CNNM4	96791539	1.000000	0.71417	0.944000	0.38274	0.961000	0.63080	7.991000	0.88244	1.950000	0.56595	0.533000	0.62120	CTC	-	NULL		0.512	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	protein_coding	OTTHUMT00000252954.1	T	NM_020184	-		97427812	1	no_errors	ENST00000377075	ensembl	human	known	74_37	missense	SNP	1.000	G	G	97427812	T	G	97427812	3	3	112	1	0	0	0	0	1	0	0	0	3617	1551	54	5	1078	5	CNNM4	2	97427812	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	159855	97427812	145771561	142	7637											
ANKRD36	375248	genome.wustl.edu	37	chr2	97830045	97830045	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgagcaaccgcctttattCacggtaaacatattttcttt	5	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97830045C>T	ENST00000461153.2	+	19	1699	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	ANKRD36_ENST00000420699.2_Silent_p.F485F			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	485										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGCCTTTATTCACGGTAAACA	0.343																																																	0								ENSG00000135976						18	13	15					2																	97830045		691	1572	2263	ANKRD36	SO:0001819	synonymous_variant	0			-	HGNC	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1455C>T	2.37:g.97830045C>T		Somatic	0	94	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F485	ENST00000461153.2	37	c.1455	CCDS54379.1	2																																																																																			-	NULL		0.343	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	protein_coding	OTTHUMT00000339154.5	C		-		97830045	1	no_errors	ENST00000420699	ensembl	human	known	74_37	silent	SNP	0.102	T	T	97830045	C	T	97830045	2	4	112	1	0	0	0	0	0	0	0	1	665	825	29	2		2	ANKRD36	2	97830045	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	402233	97830045	145369328	143	7638											
VWA3B	200403	genome.wustl.edu	37	chr2	98809377	98809377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaggattaaatggctacagGatgggagtcaaagcctcttt	11	7	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:98809377G>A	ENST00000477737.1	+	11	1687	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	VWA3B_ENST00000435344.1_Missense_Mutation_p.D495N|VWA3B_ENST00000451075.2_Missense_Mutation_p.D345N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	495										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						ATGGCTACAGGATGGGAGTCA	0.448																																																	0								ENSG00000168658						124	117	119					2																	98809377		1926	4142	6068	VWA3B	SO:0001583	missense	0			-	HGNC	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.1483G>A	2.37:g.98809377G>A	ENSP00000417955:p.Asp495Asn	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP							pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D495N	ENST00000477737.1	37	c.1483	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	9.718	1.158783	0.21454	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.21734	1.99;3.45;2.57	5.68	-0.724	0.11177	.	0.759465	0.12079	N	0.501512	T	0.11537	0.0281	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.09377	0.002;0.004;0.004;0.001	T	0.30966	-0.9960	10	0.26408	T	0.33	.	5.2969	0.15756	0.4937:0.2674:0.2388:0.0	.	345;495;495;495	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	N	495;495;345	ENSP00000401959:D495N;ENSP00000417955:D495N;ENSP00000389463:D345N	ENSP00000388158:D495N	D	+	1	0	VWA3B	98175809	0.105000	0.21958	0.109000	0.21407	0.943000	0.58893	0.335000	0.19806	0.162000	0.19483	0.650000	0.86243	GAT	-	NULL		0.448	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	protein_coding	OTTHUMT00000353469.2	G	NM_144992	-		98809377	1	no_errors	ENST00000477737	ensembl	human	known	74_37	missense	SNP	0.059	A	A	98809377	G	A	98809377	3	1	112	1	0	0	0	0	1	0	0	0	17248	1174	41	2	1521	2	VWA3B	2	98809377	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	979332	98809377	144389996	144	7639											
CNGA3	1261	genome.wustl.edu	37	chr2	99012478	99012478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaccgcctactgaagttttCccggctctttgaattctttg	7	12	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:99012478C>T	ENST00000272602.2	+	7	884	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F|CNGA3_ENST00000393504.1_Missense_Mutation_p.S282F|CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	282					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						CTGAAGTTTTCCCGGCTCTTT	0.488																																																	0								ENSG00000144191						86	80	82					2																	99012478		2203	4300	6503	CNGA3	SO:0001583	missense	0			-	HGNC	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.845C>T	2.37:g.99012478C>T	ENSP00000272602:p.Ser282Phe	Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP							pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S282F	ENST00000272602.2	37	c.845	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	9.040	0.989360	0.18966	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.15	5.15	0.70609	Ion transport (1);	0.538623	0.20559	N	0.089944	D	0.95595	0.8568	L	0.58428	1.81	0.32890	D	0.51171	B;B;B	0.14012	0.009;0.002;0.006	B;B;B	0.22601	0.04;0.04;0.032	D	0.92789	0.6247	10	0.10111	T	0.7	.	13.3127	0.60388	0.0:0.8409:0.1591:0.0	.	286;264;282	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	F	282;264;282;286	ENSP00000377140:S282F;ENSP00000410070:S264F;ENSP00000272602:S282F;ENSP00000386761:S286F	ENSP00000272602:S282F	S	+	2	0	CNGA3	98378910	0.484000	0.25964	0.792000	0.32020	0.947000	0.59692	5.537000	0.67186	2.677000	0.91161	0.563000	0.77884	TCC	-	pfam_Ion_trans_dom		0.488	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	C	NM_001298	-		99012478	1	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	SNP	0.519	T	T	99012478	C	T	99012478	3	4	112	1	0	0	0	0	1	0	0	0	3600	855	30	2	871	2	CNGA3	2	99012478	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	203101	99012478	144186895	145	7640											
TSGA10	80705	genome.wustl.edu	37	chr2	99634676	99634676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcactcttctaatgatcGatctaggcctcggtcaggag	10	11	5	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:99634676G>A	ENST00000393483.3	-	20	2903	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R687*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R687*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R687*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	687	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTAATGATCGATCTAGGCCT	0.378																																																	0								ENSG00000135951						106	100	102					2																	99634676		2203	4300	6503	TSGA10	SO:0001587	stop_gained	0			-	HGNC	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2059C>T	2.37:g.99634676G>A	ENSP00000377123:p.Arg687*	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	36	56.10	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP							NULL	p.R687*	ENST00000393483.3	37	c.2059	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.231630	0.99108	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	.	.	.	5.04	4.1	0.47936	.	0.345645	0.24361	N	0.039184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.96	10.6946	0.45892	0.0:0.0:0.6922:0.3078	.	.	.	.	X	687;687;687;687;617;687	.	ENSP00000347161:R687X	R	-	1	2	TSGA10	99001108	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.304000	0.33482	2.774000	0.95407	0.655000	0.94253	CGA	-	NULL		0.378	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	protein_coding	OTTHUMT00000253125.1	G	NM_182911	-		99634676	-1	no_errors	ENST00000355053	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	99634676	G	A	99634676	4	1	112	1	0	0	0	0	0	1	0	0	16624	1066	37	1	45	1	TSGA10	2	99634676	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	622198	99634676	143564697	146	7641											
IL1RL2	8808	genome.wustl.edu	37	chr2	102805732	102805732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattttgtttctccccatGgaatggggggactcaggagt	14	7	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:102805732G>A	ENST00000264257.2	+	3	381	c.255G>A	c.(253-255)atG>atA	p.M85I	IL1RL2_ENST00000539491.1_Missense_Mutation_p.M85I|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	85	Ig-like C2-type 1.				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						TTCTCCCCATGGAATGGGGGG	0.353																																																	0								ENSG00000115598						50	50	50					2																	102805732		2203	4300	6503	IL1RL2	SO:0001583	missense	0			-	HGNC	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.255G>A	2.37:g.102805732G>A	ENSP00000264257:p.Met85Ile	Somatic	0	109	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	42	40.85	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.M85I	ENST00000264257.2	37	c.255	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	G	7.111	0.575930	0.13623	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.10382	2.88;2.88;2.88	5.86	1.98	0.26296	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.399430	0.04273	N	0.342510	T	0.04815	0.0130	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31916	-0.9926	10	0.48119	T	0.1	.	5.1772	0.15141	0.16:0.0:0.5911:0.2488	.	85	Q9HB29	ILRL2_HUMAN	I	85	ENSP00000264257:M85I;ENSP00000387611:M85I;ENSP00000442184:M85I	ENSP00000264257:M85I	M	+	3	0	IL1RL2	102172164	0.303000	0.24463	0.003000	0.11579	0.001000	0.01503	1.571000	0.36450	0.449000	0.26747	-1.099000	0.02127	ATG	-	smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ		0.353	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	protein_coding	OTTHUMT00000253290.1	G	NM_003854	-		102805732	1	no_errors	ENST00000264257	ensembl	human	known	74_37	missense	SNP	0.004	A	A	102805732	G	A	102805732	3	1	112	1	0	0	0	0	1	0	0	0	7666	1348	47	2	261	2	IL1RL2	2	102805732	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3171056	102805732	140393641	147	7642											
SLC9A4	389015	genome.wustl.edu	37	chr2	103149136	103149137	+	Frame_Shift_Ins	INS	-	-	A													gtcccatagtcctttgctccINSaaaaaaaatagtgttattgt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:103149136_103149137insA	ENST00000295269.4	+	12	2843_2844	c.2386_2387insA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTTTGCTCCAAAAAAAATAG	0.475																																																	0								ENSG00000180251																																			SLC9A4	SO:0001589	frameshift_variant	0				HGNC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2394dupA	2.37:g.103149144_103149144dupA	ENSP00000295269:p.Gln796fs	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q69YK0	Frame_Shift_Ins	INS							pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.*799fs	ENST00000295269.4	37	c.2386_2387	CCDS33264.1	2																																																																																			-	NULL		0.475	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	protein_coding	OTTHUMT00000329498.1	-	NM_001011552.3			103149137	1	no_errors	ENST00000295269	ensembl	human	known	74_37	frame_shift_ins	INS	0.980:0.597	A	A	103149137	-	A	103149136	7	5	112	1	0	1	1	0	0	0	0	0	14724	595	21	0	2432	0	SLC9A4	2	103149136	Frame_Shift_Ins	INS	-	TCGA-DX-AB2E-01A-11D-A38Z-09	343404	103149136	140050237	148	7643											
RGPD3	653489	genome.wustl.edu	37	chr2	107041069	107041069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagagaggggcttcaggttCattgtagtcgttatccaatg	12	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:107041069C>T	ENST00000409886.3	-	20	3441	c.3354G>A	c.(3352-3354)atG>atA	p.M1118I	RGPD3_ENST00000304514.7_Missense_Mutation_p.M1118I	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1118	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTTCAGGTTCATTGTAGTCG	0.408																																																	0								ENSG00000153165						2	3	2					2																	107041069		562	1298	1860	RGPD3	SO:0001583	missense	0			-	HGNC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3354G>A	2.37:g.107041069C>T	ENSP00000386588:p.Met1118Ile	Somatic	0	241	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	109	133	45.04	B8ZZM4	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.M1118I	ENST00000409886.3	37	c.3354	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	10.57	1.388360	0.25118	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.48201	0.82;0.82	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.60573	0.2279	L	0.59967	1.855	0.34663	D	0.722928	D	0.55385	0.971	D	0.79784	0.993	T	0.67457	-0.5666	9	0.39692	T	0.17	-24.2164	10.4115	0.44296	0.0:1.0:0.0:0.0	.	1118	A6NKT7	RGPD3_HUMAN	I	1118;876;1118	ENSP00000386588:M1118I;ENSP00000303659:M1118I	ENSP00000303659:M1118I	M	-	3	0	RGPD3	106407501	1.000000	0.71417	0.947000	0.38551	0.098000	0.18820	7.578000	0.82498	1.314000	0.45095	0.186000	0.17326	ATG	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	protein_coding	OTTHUMT00000329975.1	C	XM_929931	-		107041069	-1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107041069	C	T	107041069	3	4	112	1	0	0	0	0	1	0	0	0	13295	826	29	2	1938	2	RGPD3	2	107041069	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3891933	107041069	136158304	149	7644											
RGPD4	285190	genome.wustl.edu	37	chr2	108499159	108499159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaataagaagattggaaaGgaatcaagagcaagaggagt	13	2	1	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:108499159G>A	ENST00000408999.3	+	22	5173	c.5096G>A	c.(5095-5097)aGg>aAg	p.R1699K	RGPD4_ENST00000354986.4_Missense_Mutation_p.R1699K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1699					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGATTGGAAAGGAATCAAGAG	0.403																																																	0								ENSG00000196862						372	313	331					2																	108499159		692	1591	2283	RGPD4	SO:0001583	missense	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5096G>A	2.37:g.108499159G>A	ENSP00000386810:p.Arg1699Lys	Somatic	0	441	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	319	17.99	B9A029	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R1699K	ENST00000408999.3	37	c.5096	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	12.25	1.882386	0.33255	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.52754	0.68;0.65	0.854	0.854	0.19007	.	.	.	.	.	T	0.50616	0.1626	L	0.47716	1.5	0.23673	N	0.99715	P	0.52463	0.953	P	0.53988	0.739	T	0.40850	-0.9541	9	0.87932	D	0	-1.0557	9.0795	0.36542	0.0:0.0:1.0:0.0	.	1699	Q7Z3J3	RGPD4_HUMAN	K	1699;1699;1066	ENSP00000347081:R1699K;ENSP00000386810:R1699K	ENSP00000347081:R1699K	R	+	2	0	RGPD4	107865591	1.000000	0.71417	0.992000	0.48379	0.524000	0.34500	6.676000	0.74498	0.767000	0.33267	0.398000	0.26397	AGG	-	NULL		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581	-		108499159	1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	SNP	0.999	A	A	108499159	G	A	108499159	3	1	112	1	0	0	0	0	1	0	0	0	13296	1000	35	2	5182	2	RGPD4	2	108499159	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1458090	108499159	134700214	150	7645											
SULT1C3	442038	genome.wustl.edu	37	chr2	108881355	108881355	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggaaattctgaataaaatCatctatcacacctcctttga	5	9	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:108881355C>T	ENST00000329106.2	+	6	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	232					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TGAATAAAATCATCTATCACA	0.413																																																	0								ENSG00000196228						124	113	117					2																	108881355		2203	4300	6503	SULT1C3	SO:0001819	synonymous_variant	0			-	HGNC	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.696C>T	2.37:g.108881355C>T		Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	Q6IMI5	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.I232	ENST00000329106.2	37	c.696	CCDS33267.1	2																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.413	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	protein_coding	OTTHUMT00000330255.1	C	NM_001008743	-		108881355	1	no_errors	ENST00000329106	ensembl	human	known	74_37	silent	SNP	0.445	T	T	108881355	C	T	108881355	2	4	112	1	0	0	0	0	0	0	0	1	15385	816	29	2		2	SULT1C3	2	108881355	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	382196	108881355	134318018	151	7646											
RANBP2	5903	genome.wustl.edu	37	chr2	109383182	109383182	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttggggaacttaaaaattCtcaaaaacgaggtcaatggc	10	7	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:109383182C>T	ENST00000283195.6	+	20	6313	c.6187C>T	c.(6187-6189)Ctc>Ttc	p.L2063F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2063	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTAAAAATTCTCAAAAACGA	0.383																																																	0								ENSG00000153201						150	177	168					2																	109383182		2202	4292	6494	RANBP2	SO:0001583	missense	0			-	HGNC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6187C>T	2.37:g.109383182C>T	ENSP00000283195:p.Leu2063Phe	Somatic	0	345	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	184	39.14	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.L2063F	ENST00000283195.6	37	c.6187	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525030	0.64747	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.55760	0.5	5.65	4.76	0.60689	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.77948	0.4207	M	0.92169	3.28	0.43462	D	0.995664	D	0.89917	1.0	D	0.97110	1.0	T	0.83088	-0.0134	9	0.87932	D	0	-10.0657	13.9985	0.64419	0.0:0.9276:0.0:0.0724	.	2063	P49792	RBP2_HUMAN	F	1087;2063	ENSP00000283195:L2063F	ENSP00000283195:L2063F	L	+	1	0	RANBP2	108749614	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.949000	0.63596	2.653000	0.90120	0.557000	0.71058	CTC	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	protein_coding	OTTHUMT00000253594.1	C	NM_006267	-		109383182	1	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109383182	C	T	109383182	3	4	112	1	0	0	0	0	1	0	0	0	13036	913	32	2	6265	2	RANBP2	2	109383182	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	501827	109383182	133816191	152	7647											
RANBP2	5903	genome.wustl.edu	37	chr2	109384259	109384259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtagagcatttagctgttCgttttaaactacaggatgtt	9	5	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:109384259C>T	ENST00000283195.6	+	20	7390	c.7264C>T	c.(7264-7266)Cgt>Tgt	p.R2422C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2422	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAGCTGTTCGTTTTAAACT	0.368																																																	0								ENSG00000153201						84	98	93					2																	109384259		1582	3088	4670	RANBP2	SO:0001583	missense	0			-	HGNC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7264C>T	2.37:g.109384259C>T	ENSP00000283195:p.Arg2422Cys	Somatic	0	462	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	316	12.19	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.R2422C	ENST00000283195.6	37	c.7264	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883114	0.51908	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.55052	0.54	5.47	5.47	0.80525	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.69672	0.3137	M	0.92604	3.325	0.43007	D	0.994536	D	0.60575	0.988	P	0.45913	0.497	T	0.80251	-0.1460	9	0.87932	D	0	-21.2704	19.698	0.96034	0.0:1.0:0.0:0.0	.	2422	P49792	RBP2_HUMAN	C	1446;2422	ENSP00000283195:R2422C	ENSP00000283195:R2422C	R	+	1	0	RANBP2	108750691	0.998000	0.40836	0.939000	0.37840	0.887000	0.51463	3.901000	0.56303	2.736000	0.93811	0.305000	0.20034	CGT	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	protein_coding	OTTHUMT00000253594.1	C	NM_006267	-		109384259	1	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	SNP	0.977	T	T	109384259	C	T	109384259	3	4	112	1	0	0	0	0	1	0	0	0	13036	884	31	1	7342	1	RANBP2	2	109384259	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1077	109384259	133815114	153	7648											
NPHP1	4867	genome.wustl.edu	37	chr2	110881436	110881436	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaaggtcaaaaggttcatGaactccgtctggtgacagca	11	8	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:110881436G>A	ENST00000393272.3	-	20	2228	c.2131C>T	c.(2131-2133)Cat>Tat	p.H711Y	NPHP1_ENST00000445609.2_Missense_Mutation_p.H656Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.H593Y|NPHP1_ENST00000417665.1_Missense_Mutation_p.H690Y|NPHP1_ENST00000316534.4_Missense_Mutation_p.H712Y|AC013268.1_ENST00000390802.1_RNA	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	711					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AAAGGTTCATGAACTCCGTCT	0.502																																																	0								ENSG00000144061						113	100	104					2																	110881436		2203	4300	6503	NPHP1	SO:0001583	missense	0			-	HGNC	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2131C>T	2.37:g.110881436G>A	ENSP00000376953:p.His711Tyr	Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	38	47.95	O14837	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.H712Y	ENST00000393272.3	37	c.2134	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988753	0.53934	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.66099	-0.11;-0.1;-0.11;-0.08;-0.19	5.7	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.81914	0.988;0.991;0.987;0.995;0.991	T	0.81256	-0.1015	10	0.87932	D	0	-22.6663	14.912	0.70764	0.0:0.1438:0.8562:0.0	.	655;593;711;656;712	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	Y	712;656;711;593;690	ENSP00000313169:H712Y;ENSP00000389879:H656Y;ENSP00000376953:H711Y;ENSP00000347452:H593Y;ENSP00000402176:H690Y	ENSP00000313169:H712Y	H	-	1	0	NPHP1	110238725	0.997000	0.39634	0.101000	0.21167	0.606000	0.37113	3.754000	0.55189	2.690000	0.91761	0.462000	0.41574	CAT	-	NULL		0.502	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	protein_coding	OTTHUMT00000253919.3	G	NM_000272	-		110881436	-1	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	SNP	0.414	A	A	110881436	G	A	110881436	3	1	112	1	0	0	0	0	1	0	0	0	10581	1290	45	2	71	2	NPHP1	2	110881436	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1497177	110881436	132317937	154	7649											
POLR1B	84172	genome.wustl.edu	37	chr2	113333219	113333219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagtcgcagtgacactatCgatactgtttctgtgcctta	9	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:113333219C>T	ENST00000263331.5	+	15	3901	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	POLR1B_ENST00000537335.1_Silent_p.I896I|POLR1B_ENST00000417433.2_Silent_p.I1051I|POLR1B_ENST00000409894.3_Silent_p.I924I|POLR1B_ENST00000541869.1_Silent_p.I1145I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1107					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTGACACTATCGATACTGTTT	0.438																																					Ovarian(16;256 576 9537 23969 41147)												0								ENSG00000125630						133	118	123					2																	113333219		2203	4300	6503	POLR1B	SO:0001819	synonymous_variant	0			-	HGNC	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3321C>T	2.37:g.113333219C>T		Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	26	50.94	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP							pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.I1145	ENST00000263331.5	37	c.3435	CCDS2097.1	2																																																																																			-	pfam_RNA_pol_Rpb2_7		0.438	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	protein_coding	OTTHUMT00000254083.1	C	NM_019014	-		113333219	1	no_errors	ENST00000541869	ensembl	human	known	74_37	silent	SNP	0.282	T	T	113333219	C	T	113333219	2	4	112	1	0	0	0	0	0	0	0	1	12212	874	31	1		1	POLR1B	2	113333219	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2451783	113333219	129866154	155	7650											
IL1F10	84639	genome.wustl.edu	37	chr2	113832364	113832364	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccccattttcctggggatCcagggagggagccgctgcct	14	13	0	0	rs34320972		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000341010.2_Silent_p.I61I|IL1F10_ENST00000337569.3_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space (GO:0005615)		p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582													C|||	1	0.000199681	0	0	5008	,	,		18825	0		0.001	False		,,,				2504	0																2	Substitution - coding silent(2)	lung(2)						ENSG00000136697	C	,	0,4406		0,0,2203	60	62	61		183,183	2.1	0.7	2	dbSNP_126	61	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous,coding-synonymous	IL1F10	NM_032556.5,NM_173161.2	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	61/153,61/153	113832364	4,13002	2203	4300	6503	IL1F10	SO:0001819	synonymous_variant	0			-	HGNC	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"Interleukins and interleukin receptors"	15552	protein-coding gene	gene with protein product	"FIL1- theta", "interleukin-1 receptor antagonist FKSG75"	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.183C>T	2.37:g.113832364C>T		Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Silent	SNP							pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_beta	p.I61	ENST00000393197.2	37	c.183	CCDS2112.1	2																																																																																			-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_beta		0.582	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	IL1F10	protein_coding	OTTHUMT00000330725.1	C	NM_173161	rs34320972		113832364	1	no_errors	ENST00000337569	ensembl	human	known	74_37	silent	SNP	0.644	T	T	113832364	C	T	113832364	2	4	112	1	0	0	0	0	0	0	0	1	7654	845	30	2		2	IL1F10	2	113832364	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	499145	113832364	129367009	156	7651											
DPP10	57628	genome.wustl.edu	37	chr2	116447290	116447290	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attattcgtatactgcttcaTatgtgatttacaacatacac	4	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:116447290T>A	ENST00000410059.1	+	6	949	c.469T>A	c.(469-471)Tat>Aat	p.Y157N	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.Y107N|DPP10_ENST00000310323.8_Missense_Mutation_p.Y150N|DPP10_ENST00000393147.2_Missense_Mutation_p.Y161N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	157						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TACTGCTTCATATGTGATTTA	0.254																																																	0								ENSG00000175497						83	79	81					2																	116447290		2203	4299	6502	DPP10	SO:0001583	missense	0			-	HGNC	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.469T>A	2.37:g.116447290T>A	ENSP00000386565:p.Tyr157Asn	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.Y161N	ENST00000410059.1	37	c.481	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970620	0.74246	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.85	4.85	0.62838	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	H	0.94658	3.565	0.58432	D	0.999995	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	T	0.80274	-0.1451	10	0.87932	D	0	-30.9377	12.308	0.54912	0.0:0.0:0.0:1.0	.	150;161;153;157	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	157;107;153;161;150;107	ENSP00000386565:Y157N;ENSP00000387038:Y107N;ENSP00000376854:Y153N;ENSP00000376855:Y161N;ENSP00000309066:Y150N	ENSP00000309066:Y150N	Y	+	1	0	DPP10	116163760	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	6.458000	0.73509	2.035000	0.60131	0.528000	0.53228	TAT	-	pfam_Peptidase_S9B		0.254	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	T	NM_020868	-		116447290	1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116447290	T	A	116447290	3	1	112	1	0	0	0	0	1	0	0	0	4729	1406	49	5	662	5	DPP10	2	116447290	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2614926	116447290	126752083	157	7652											
DDX18	8886	genome.wustl.edu	37	chr2	118586926	118586926	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcccaggaagcatataagtCatacatacgagcctatgatt	8	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:118586926C>T	ENST00000263239.2	+	13	1882	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	585					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCATATAAGTCATACATACGA	0.343																																																	0								ENSG00000088205						106	107	106					2																	118586926		2203	4300	6503	DDX18	SO:0001583	missense	0			-	HGNC	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1754C>T	2.37:g.118586926C>T	ENSP00000263239:p.Ser585Leu	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S585L	ENST00000263239.2	37	c.1754	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160900	0.78226	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.03004	4.08	4.67	4.67	0.58626	.	0.825082	0.11487	N	0.559109	T	0.27900	0.0687	H	0.97214	3.96	0.58432	D	0.999997	P	0.48764	0.915	P	0.55749	0.783	T	0.36311	-0.9753	10	0.87932	D	0	-0.0943	16.2848	0.82714	0.0:1.0:0.0:0.0	.	585	Q9NVP1	DDX18_HUMAN	L	585;324	ENSP00000263239:S585L	ENSP00000263239:S585L	S	+	2	0	DDX18	118303396	1.000000	0.71417	0.956000	0.39512	0.585000	0.36419	7.077000	0.76814	2.595000	0.87683	0.650000	0.86243	TCA	-	NULL		0.343	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	protein_coding	OTTHUMT00000129632.3	C	NM_006773	-		118586926	1	no_errors	ENST00000263239	ensembl	human	known	74_37	missense	SNP	0.999	T	T	118586926	C	T	118586926	3	4	112	1	0	0	0	0	1	0	0	0	4347	838	29	2	1804	2	DDX18	2	118586926	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2139636	118586926	124612447	158	7653											
CCDC93	54520	genome.wustl.edu	37	chr2	118715984	118715984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcaatctgtttgttcaagGaaatgactttccggcgatgt	11	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:118715984G>A	ENST00000376300.2	-	12	1099	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.S320F	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	321										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTTGTTCAAGGAAATGACTTT	0.408																																																	0								ENSG00000125633						129	111	117					2																	118715984		2203	4300	6503	CCDC93	SO:0001583	missense	0			-	HGNC	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.962C>T	2.37:g.118715984G>A	ENSP00000365477:p.Ser321Phe	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	42	38.24	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP							pfam_DUF2037	p.S321F	ENST00000376300.2	37	c.962	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768871	0.31320	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19669	2.13;2.13	5.33	5.33	0.75918	.	0.060889	0.64402	D	0.000002	T	0.40694	0.1127	M	0.68952	2.095	0.41639	D	0.989065	D	0.63046	0.992	P	0.59357	0.856	T	0.17289	-1.0374	10	0.66056	D	0.02	-4.8946	14.4662	0.67485	0.0:0.0:1.0:0.0	.	321	Q567U6	CCD93_HUMAN	F	321;320	ENSP00000365477:S321F;ENSP00000324135:S320F	ENSP00000324135:S320F	S	-	2	0	CCDC93	118432454	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	5.843000	0.69424	2.789000	0.95967	0.558000	0.71614	TCC	-	NULL		0.408	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	protein_coding	OTTHUMT00000129615.1	G	NM_019044	-		118715984	-1	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118715984	G	A	118715984	3	1	112	1	0	0	0	0	1	0	0	0	2874	1174	41	2	985	2	CCDC93	2	118715984	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	129058	118715984	124483389	159	7654											
MARCO	8685	genome.wustl.edu	37	chr2	119749400	119749400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcccagggctggcaggtCccaagggagcccctggacaa	16	13	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:119749400C>T	ENST00000327097.4	+	14	1291	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	MARCO_ENST00000541757.1_Missense_Mutation_p.P308S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	386	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGGCAGGTCCCAAGGGAGC	0.587																																					GBM(8;18 374 7467 11269 32796)												0								ENSG00000019169						34	33	33					2																	119749400		2199	4300	6499	MARCO	SO:0001583	missense	0			-	HGNC	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1156C>T	2.37:g.119749400C>T	ENSP00000318916:p.Pro386Ser	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	B4DW79|Q9Y5S3	Missense_Mutation	SNP							pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.P386S	ENST00000327097.4	37	c.1156	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	C	7.159	0.585334	0.13749	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93133	-3.17;-3.17	5.5	3.54	0.40534	.	1.225560	0.05500	N	0.558290	D	0.91737	0.7387	L	0.37697	1.125	0.09310	N	1	B	0.27416	0.178	B	0.39419	0.299	T	0.81008	-0.1127	9	.	.	.	.	9.3066	0.37878	0.0:0.7372:0.1761:0.0867	.	386	Q9UEW3	MARCO_HUMAN	S	386;386;308	ENSP00000318916:P386S;ENSP00000441769:P308S	.	P	+	1	0	MARCO	119465870	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.218000	0.17622	0.808000	0.34231	-0.797000	0.03246	CCC	-	pfam_Collagen		0.587	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	protein_coding	OTTHUMT00000254190.2	C	NM_006770	-		119749400	1	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	SNP	0.003	T	T	119749400	C	T	119749400	3	4	112	1	0	0	0	0	1	0	0	0	9313	855	30	2	1210	2	MARCO	2	119749400	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1033416	119749400	123449973	160	7655											
SCTR	6344	genome.wustl.edu	37	chr2	120221760	120221760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacggcgtccttgatgaagTtggacagggcacgaaggatg	16	8	0	2	rs374741128		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:120221760T>C	ENST00000019103.5	-	6	842	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	192					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)	CTTGATGAAGTTGGACAGGGC	0.567																																																	0								ENSG00000080293	T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	195	162	173		575	4.1	1	2		173	0,8600		0,0,4300	no	missense	SCTR	NM_002980.2	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	192/441	120221760	1,13005	2203	4300	6503	SCTR	SO:0001583	missense	0			-	HGNC		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.575A>G	2.37:g.120221760T>C	ENSP00000019103:p.Asn192Ser	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	Q12961|Q13213|Q53T00	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1	p.N192S	ENST00000019103.5	37	c.575	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332736	0.60853	2.27E-4	0.0	ENSG00000080293	ENST00000019103	T	0.41758	0.99	5.24	4.06	0.47325	GPCR, family 2-like (1);	0.101618	0.42821	D	0.000646	T	0.33962	0.0881	N	0.13098	0.295	0.39211	D	0.963312	P	0.35139	0.486	P	0.45538	0.484	T	0.36866	-0.9730	10	0.87932	D	0	.	8.9971	0.36059	0.2961:0.0:0.0:0.7039	.	192	P47872	SCTR_HUMAN	S	192	ENSP00000019103:N192S	ENSP00000019103:N192S	N	-	2	0	SCTR	119938230	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	3.993000	0.56987	0.978000	0.38470	0.533000	0.62120	AAC	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.567	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	protein_coding	OTTHUMT00000254198.2	T		-		120221760	-1	no_errors	ENST00000019103	ensembl	human	known	74_37	missense	SNP	1.000	C	C	120221760	T	C	120221760	3	2	112	1	0	0	0	0	1	0	0	0	13951	1725	60	5	779	5	SCTR	2	120221760	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	472360	120221760	122977613	161	7656											
BIN1	274	genome.wustl.edu	37	chr2	127828348	127828348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcctacctttgacggaGgccaggtaggtccggagatc	13	12	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:127828348G>A	ENST00000316724.5	-	3	621	c.210C>T	c.(208-210)gcC>gcT	p.A70A	BIN1_ENST00000351659.3_Silent_p.A70A|BIN1_ENST00000357970.3_Silent_p.A70A|BIN1_ENST00000393041.3_Silent_p.A70A|BIN1_ENST00000393040.3_Silent_p.A70A|BIN1_ENST00000409400.1_Silent_p.A70A|BIN1_ENST00000259238.4_Silent_p.A70A|BIN1_ENST00000346226.3_Silent_p.A70A|BIN1_ENST00000352848.3_Silent_p.A70A|BIN1_ENST00000348750.4_Silent_p.A70A|BIN1_ENST00000376113.2_Silent_p.A70A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	70	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTTGACGGAGGCCAGGTAGG	0.647																																																	0								ENSG00000136717						55	53	54					2																	127828348		2203	4300	6503	BIN1	SO:0001819	synonymous_variant	0			-	HGNC	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.210C>T	2.37:g.127828348G>A		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP							pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.A70	ENST00000316724.5	37	c.210	CCDS2138.1	2																																																																																			-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.647	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	protein_coding	OTTHUMT00000254298.2	G	NM_139343	-		127828348	-1	no_errors	ENST00000316724	ensembl	human	known	74_37	silent	SNP	0.968	A	A	127828348	G	A	127828348	2	1	112	1	0	0	0	0	0	0	0	1	1432	987	35	2		2	BIN1	2	127828348	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7606588	127828348	115371025	162	7657											
FAM123C	205147	genome.wustl.edu	37	chr2	131520777	131520777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccaagagcgagcagcccGaatccgtgtccacaagtgac	10	16	0	2	rs374958959		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:131520777G>A	ENST00000423981.1	+	2	1242	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	AMER3_ENST00000321420.4_Missense_Mutation_p.E378K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	378					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E378*(1)									CGAGCAGCCCGAATCCGTGTC	0.637																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000178171	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	73	56	62		1132,1132,1132,1132	5.4	0	2		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	378/862,378/862,378/862,378/862	131520777	1,13005	2203	4300	6503	AMER3	SO:0001583	missense	0			-	HGNC	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1132G>A	2.37:g.131520777G>A	ENSP00000392700:p.Glu378Lys	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	B7ZLH6	Missense_Mutation	SNP							pfam_Uncharacterised_FAM123	p.E378K	ENST00000423981.1	37	c.1132	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076995	0.76415	0.0	1.16E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.24908	1.83;1.83	5.4	5.4	0.78164	.	0.070422	0.52532	D	0.000072	T	0.49949	0.1587	M	0.77103	2.36	0.30537	N	0.766854	D	0.89917	1.0	D	0.72625	0.978	T	0.55685	-0.8102	10	0.59425	D	0.04	.	12.0672	0.53594	0.0:0.0:0.828:0.172	.	378	Q8N944	F123C_HUMAN	K	378	ENSP00000314914:E378K;ENSP00000392700:E378K	ENSP00000314914:E378K	E	+	1	0	FAM123C	131237247	1.000000	0.71417	0.041000	0.18516	0.735000	0.41995	8.421000	0.90259	2.707000	0.92482	0.561000	0.74099	GAA	-	pfam_Uncharacterised_FAM123		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	protein_coding	OTTHUMT00000254531.3	G	NM_152698	-		131520777	1	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	SNP	0.732	A	A	131520777	G	A	131520777	3	1	112	1	0	0	0	0	1	0	0	0	5426	1059	37	1	1134	1	FAM123C	2	131520777	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3692429	131520777	111678596	163	7658											
POTEE	445582	genome.wustl.edu	37	chr2	131976158	131976158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacactcaggagcaagatGggcaagtggtgccaccactg	13	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:131976158G>T	ENST00000356920.5	+	1	277	c.183G>T	c.(181-183)atG>atT	p.M61I	POTEE_ENST00000358087.5_Missense_Mutation_p.M61I|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	61					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGAGCAAGATGGGCAAGTGGT	0.597																																																	0								ENSG00000188219						165	158	161					2																	131976158		2203	4298	6501	POTEE	SO:0001583	missense	0			-	HGNC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.183G>T	2.37:g.131976158G>T	ENSP00000439189:p.Met61Ile	Somatic	0	132	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	72	33.94	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.M61I	ENST00000356920.5	37	c.183	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	4.645	0.119953	0.08881	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.77877	-1.13;1.5	.	.	.	.	.	.	.	.	T	0.63780	0.2540	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.55736	-0.8094	7	0.87932	D	0	.	.	.	.	.	61	Q6S8J3	POTEE_HUMAN	I	61	ENSP00000439189:M61I;ENSP00000443049:M61I	ENSP00000439189:M61I	M	+	3	0	AC131180.1	131692628	0.018000	0.18449	0.026000	0.17262	0.027000	0.11550	0.324000	0.19610	0.159000	0.19401	0.162000	0.16502	ATG	-	NULL		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	protein_coding		G	NM_001083538	-		131976158	1	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	SNP	0.029	T	T	131976158	G	T	131976158	3	4	112	1	0	0	0	0	1	0	0	0	12266	1348	47	3	185	3	POTEE	2	131976158	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	455381	131976158	111223215	164	7659											
POTEE	445582	genome.wustl.edu	37	chr2	132021747	132021747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccaccatggccgagcggGaaatcgtgcgtgacatcaaa	11	12	2	1	rs369294973		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:132021747G>A	ENST00000356920.5	+	15	2813	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	907	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGCCGAGCGGGAAATCGTGCG	0.597																																																	0								ENSG00000188219	G	LYS/GLU	3,4091		0,3,2044	33	34	34		2719		0.1	2		34	0,8084		0,0,4042	no	missense	POTEE	NM_001083538.1	56	0,3,6086	AA,AG,GG		0.0,0.0733,0.0246	probably-damaging	907/1076	132021747	3,12175	2047	4042	6089	POTEE	SO:0001583	missense	0			-	HGNC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2719G>A	2.37:g.132021747G>A	ENSP00000439189:p.Glu907Lys	Somatic	0	134	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	57	37.36	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.E907K	ENST00000356920.5	37	c.2719	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190688	0.58017	7.33E-4	0.0	ENSG00000188219	ENST00000356920	D	0.94613	-3.47	.	.	.	.	.	.	.	.	D	0.96793	0.8953	H	0.95611	3.695	0.80722	D	1	D	0.71674	0.998	P	0.58660	0.843	D	0.94618	0.7810	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	907	Q6S8J3	POTEE_HUMAN	K	907	ENSP00000439189:E907K	ENSP00000439189:E907K	E	+	1	0	AC131180.1	131738217	1.000000	0.71417	0.090000	0.20809	0.091000	0.18340	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAA	-	pfam_Actin-related,smart_Actin-related		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	protein_coding		G	NM_001083538	-		132021747	1	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132021747	G	A	132021747	3	1	112	1	0	0	0	0	1	0	0	0	12266	1175	41	2	2777	2	POTEE	2	132021747	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	45589	132021747	111177626	165	7660											
ZRANB3	84083	genome.wustl.edu	37	chr2	136029338	136029338	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagacttgaaatttcttacCtggccagcagcctgaatgct	8	10	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:136029338C>T	ENST00000264159.6	-	10	1322	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	ZRANB3_ENST00000401392.1_Splice_Site_p.Q402Q|ZRANB3_ENST00000536680.1_Splice_Site_p.Q402Q	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	402	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATTTCTTACCTGGCCAGCAG	0.353																																																	0								ENSG00000121988						56	54	55					2																	136029338		1849	4093	5942	ZRANB3	SO:0001630	splice_region_variant	0			-	HGNC	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1206+1G>A	2.37:g.136029338C>T		Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q402	ENST00000264159.6	37	c.1206	CCDS46419.1	2																																																																																			-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.353	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	protein_coding	OTTHUMT00000318254.1	C	NM_032143	-	Silent	136029338	-1	no_errors	ENST00000264159	ensembl	human	known	74_37	silent	SNP	1.000	T	T	136029338	C	T	136029338	5	4	112	1	0	0	0	0	0	0	1	0	18231	695	24	2	2081	2	ZRANB3	2	136029338	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4007591	136029338	107170035	166	7661											
THSD7B	80731	genome.wustl.edu	37	chr2	137814297	137814297	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcgctgcattcagaagctGaaccgaactgtggttgcaaa	12	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:137814297G>A	ENST00000409968.1	+	3	625	c.447G>A	c.(445-447)ctG>ctA	p.L149L	THSD7B_ENST00000413152.2_Silent_p.L118L|THSD7B_ENST00000543459.1_Silent_p.L8L|THSD7B_ENST00000272643.3_Silent_p.L149L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	149	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCAGAAGCTGAACCGAACTG	0.532																																																	0								ENSG00000144229						103	106	105					2																	137814297		2027	4194	6221	THSD7B	SO:0001819	synonymous_variant	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.447G>A	2.37:g.137814297G>A		Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58		Silent	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L149	ENST00000409968.1	37	c.447		2																																																																																			-	superfamily_Thrombospondin_1_rpt		0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9	-		137814297	1	no_errors	ENST00000272643	ensembl	human	known	74_37	silent	SNP	0.994	A	A	137814297	G	A	137814297	2	1	112	1	0	0	0	0	0	0	0	1	15887	1277	45	2		2	THSD7B	2	137814297	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1784959	137814297	105385076	167	7662											
THSD7B	80731	genome.wustl.edu	37	chr2	138414698	138414698	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataacgaacgaactgtatGgtgccagcgttcagatggcg	12	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:138414698G>A	ENST00000409968.1	+	24	4521	c.4343G>A	c.(4342-4344)tGg>tAg	p.W1448*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1420*|THSD7B_ENST00000543459.1_Missense_Mutation_p.G283S|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1451*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1450						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGAACTGTATGGTGCCAGCGT	0.413																																																	0								ENSG00000144229						113	112	113					2																	138414698		1952	4158	6110	THSD7B	SO:0001587	stop_gained	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4343G>A	2.37:g.138414698G>A	ENSP00000387145:p.Trp1448*	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18		Nonsense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W1451*	ENST00000409968.1	37	c.4352		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.727409|11.727409	0.99596|0.99596	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000543459|ENST00000409968;ENST00000272643;ENST00000413152	T|.	0.35236|.	1.32|.	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.50411|.	0.1614|.	.|.	.|.	.|.	0.42975|0.42975	D|D	0.994443|0.994443	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38156|.	-0.9674|.	6|.	0.30854|0.02654	T|T	0.27|1	.|.	20.8599|20.8599	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	283|1448;1451;1420	ENSP00000443370:G283S|.	ENSP00000443370:G283S|ENSP00000272643:W1451X	G|W	+|+	1|2	0|0	THSD7B|THSD7B	138131168|138131168	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	9.472000|9.472000	0.97709|0.97709	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG	-	NULL		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9	-		138414698	1	no_errors	ENST00000272643	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	138414698	G	A	138414698	4	1	112	1	0	0	0	0	0	1	0	0	15887	1357	47	2	4345	2	THSD7B	2	138414698	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	600401	138414698	104784675	168	7663											
LRP1B	53353	genome.wustl.edu	37	chr2	140992434	140992434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagcttgaaagcactgggtCctccccctatgtacctggcc	10	14	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:140992434C>T	ENST00000389484.3	-	90	14551	c.13580G>A	c.(13579-13581)gGa>gAa	p.G4527E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4527					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)		agcactgggtcctccccctat	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						106	105	105					2																	140992434		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.13580G>A	2.37:g.140992434C>T	ENSP00000374135:p.Gly4527Glu	Somatic	0	127	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	72	33.33	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G4527E	ENST00000389484.3	37	c.13580	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160150	0.57368	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89485	-2.52	5.24	4.35	0.52113	.	0.365937	0.25109	N	0.033078	D	0.87537	0.6202	L	0.44542	1.39	0.30444	N	0.775917	D	0.58268	0.982	P	0.49637	0.617	D	0.86065	0.1534	10	0.66056	D	0.02	.	11.3165	0.49394	0.1815:0.8185:0.0:0.0	.	4527	Q9NZR2	LRP1B_HUMAN	E	4527;4465	ENSP00000374135:G4527E	ENSP00000374135:G4527E	G	-	2	0	LRP1B	140708904	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.167000	0.42415	1.542000	0.49330	0.650000	0.86243	GGA	-	NULL		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		140992434	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140992434	C	T	140992434	3	4	112	1	0	0	0	0	1	0	0	0	8957	855	30	2	227	2	LRP1B	2	140992434	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2577736	140992434	102206939	169	7664											
LRP1B	53353	genome.wustl.edu	37	chr2	141232776	141232776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcggcccagtagagtctacGattaacataatctattgtta	7	8	2	1	rs567834250		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:141232776G>A	ENST00000389484.3	-	60	10527	c.9556C>T	c.(9556-9558)Cgt>Tgt	p.R3186C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3186					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.R3186C(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)		TAGAGTCTACGATTAACATAA	0.378										TSP Lung(27;0.18)			G|||	1	0.000199681	8e-04	0	5008	,	,		11800	0		0	False		,,,				2504	0				Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000168702						108	99	102					2																	141232776		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.9556C>T	2.37:g.141232776G>A	ENSP00000374135:p.Arg3186Cys	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R3186C	ENST00000389484.3	37	c.9556	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031683	0.54790	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95238	-3.65	5.63	4.68	0.58851	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.441686	0.23558	N	0.046884	D	0.91449	0.7301	L	0.53729	1.69	0.30807	N	0.739218	B	0.32893	0.389	B	0.25291	0.059	D	0.91358	0.5109	10	0.62326	D	0.03	.	13.7778	0.63064	0.0:0.0:0.735:0.265	.	3186	Q9NZR2	LRP1B_HUMAN	C	3186;3124	ENSP00000374135:R3186C	ENSP00000374135:R3186C	R	-	1	0	LRP1B	140949246	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.706000	0.47135	2.653000	0.90120	0.650000	0.86243	CGT	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		141232776	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	0.994	A	A	141232776	G	A	141232776	3	1	112	1	0	0	0	0	1	0	0	0	8957	1058	37	1	4371	1	LRP1B	2	141232776	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	240342	141232776	101966597	170	7665											
LRP1B	53353	genome.wustl.edu	37	chr2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtccacaaaatagagatttCgagtgagccagtcaatcgcc	10	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					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)		ATAGAGATTTCGAGTGAGCCA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						105	93	97					2																	141946119		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.884G>A	2.37:g.141946119C>T	ENSP00000374135:p.Arg295Gln	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	30	50.00	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R295Q	ENST00000389484.3	37	c.884	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824873	0.71143	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96041	-3.89	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073683	0.53938	U	0.000048	D	0.93213	0.7838	L	0.45581	1.43	0.34198	D	0.672794	B	0.29552	0.248	B	0.27608	0.081	D	0.93997	0.7272	10	0.33940	T	0.23	.	18.7278	0.91720	0.0:1.0:0.0:0.0	.	295	Q9NZR2	LRP1B_HUMAN	Q	295;233	ENSP00000374135:R295Q	ENSP00000374135:R295Q	R	-	2	0	LRP1B	141662589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.937000	0.70162	2.406000	0.81754	0.655000	0.94253	CGA	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		141946119	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141946119	C	T	141946119	3	4	112	1	0	0	0	0	1	0	0	0	8957	884	31	1	13255	1	LRP1B	2	141946119	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	713343	141946119	101253254	171	7666											
LRP1B	53353	genome.wustl.edu	37	chr2	141986907	141986907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagtatgaatttcatttCcattgactgagcttagagtt	8	7	1	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:141986907C>T	ENST00000389484.3	-	6	1666	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	232					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)		AATTTCATTTCCATTGACTGA	0.299										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						51	53	52					2																	141986907		2202	4295	6497	LRP1B	SO:0001583	missense	0			-	HGNC	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.695G>A	2.37:g.141986907C>T	ENSP00000374135:p.Gly232Glu	Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	48	38.46	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G232E	ENST00000389484.3	37	c.695	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	7.223	0.597689	0.13875	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.2	3.4	0.38934	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.540074	0.17189	U	0.183575	T	0.82231	0.4992	L	0.43152	1.355	0.22954	N	0.998518	B	0.02656	0.0	B	0.01281	0.0	T	0.63129	-0.6706	10	0.02654	T	1	.	6.6258	0.22828	0.0:0.6937:0.1473:0.159	.	232	Q9NZR2	LRP1B_HUMAN	E	232;170	ENSP00000374135:G232E	ENSP00000374135:G232E	G	-	2	0	LRP1B	141703377	1.000000	0.71417	0.925000	0.36789	0.990000	0.78478	2.611000	0.46334	0.596000	0.29794	0.585000	0.79938	GGA	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		141986907	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	0.978	T	T	141986907	C	T	141986907	3	4	112	1	0	0	0	0	1	0	0	0	8957	855	30	2	13448	2	LRP1B	2	141986907	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	40788	141986907	101212466	172	7667											
PKP4	8502	genome.wustl.edu	37	chr2	159481744	159481744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtccccactgaccctgacgGatgcacagactcgagtagct	11	14	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:159481744G>A	ENST00000389759.3	+	7	1070	c.958G>A	c.(958-960)Gat>Aat	p.D320N	PKP4_ENST00000389757.3_Missense_Mutation_p.D320N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	320					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCCTGACGGATGCACAGAC	0.627										HNSCC(62;0.18)																																							0								ENSG00000144283						57	54	55					2																	159481744		2203	4300	6503	PKP4	SO:0001583	missense	0			-	HGNC	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.958G>A	2.37:g.159481744G>A	ENSP00000374409:p.Asp320Asn	Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	Q86W91	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D320N	ENST00000389759.3	37	c.958	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917246	0.92249	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74002	-0.8;-0.8	5.87	5.87	0.94306	.	0.420322	0.27336	N	0.019838	D	0.82582	0.5068	L	0.51422	1.61	0.58432	D	0.999998	D;P;P;D	0.58970	0.972;0.94;0.952;0.984	P;P;P;P	0.61800	0.83;0.773;0.678;0.894	T	0.79761	-0.1667	10	0.41790	T	0.15	-14.6842	20.5827	0.99408	0.0:0.0:1.0:0.0	.	172;320;320;172	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	172;320;320	ENSP00000374407:D320N;ENSP00000374409:D320N	ENSP00000374407:D320N	D	+	1	0	PKP4	159189990	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.017000	0.76399	2.941000	0.99782	0.655000	0.94253	GAT	-	NULL		0.627	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	protein_coding	OTTHUMT00000333250.1	G		-		159481744	1	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	SNP	0.999	A	A	159481744	G	A	159481744	3	1	112	1	0	0	0	0	1	0	0	0	11989	1174	41	2	980	2	PKP4	2	159481744	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	17494837	159481744	83717629	173	7668											
SCN3A	6328	genome.wustl.edu	37	chr2	165946788	165946788	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggtagaggaactcccatCtgttttttctggagtggagt	14	6	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:165946788C>T	ENST00000360093.3	-	28	6366	c.5875G>A	c.(5875-5877)Gat>Aat	p.D1959N	SCN3A_ENST00000540861.1_Missense_Mutation_p.D442N|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1910N|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1959N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1959					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)	GAACTCCCATCTGTTTTTTCT	0.373																																																	0								ENSG00000153253						98	96	97					2																	165946788		2203	4300	6503	SCN3A	SO:0001583	missense	0			-	HGNC	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.5875G>A	2.37:g.165946788C>T	ENSP00000353206:p.Asp1959Asn	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1959N	ENST00000360093.3	37	c.5875		2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265977	0.40095	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.96774	-3.89;-3.89;-3.83;-4.12	6.03	6.03	0.97812	.	0.293395	0.29376	N	0.012337	D	0.97102	0.9053	M	0.73753	2.245	0.58432	D	0.999995	P;P;B	0.46142	0.873;0.873;0.309	P;P;B	0.49047	0.599;0.599;0.121	D	0.96966	0.9705	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1910;1910;1959	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	N	1959;1959;1910;442	ENSP00000353206:D1959N;ENSP00000283254:D1959N;ENSP00000386726:D1910N;ENSP00000439920:D442N	ENSP00000283254:D1959N	D	-	1	0	SCN3A	165655034	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.801000	0.62532	2.861000	0.98227	0.655000	0.94253	GAT	-	NULL		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		C	NM_006922	-		165946788	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	165946788	C	T	165946788	3	4	112	1	0	0	0	0	1	0	0	0	13926	913	32	2	131	2	SCN3A	2	165946788	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6465044	165946788	77252585	174	7669											
SCN3A	6328	genome.wustl.edu	37	chr2	165949021	165949021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacaaaatcaaagaccattCcttggaatttgttctagaaa	5	7	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:165949021C>T	ENST00000360093.3	-	27	5041	c.4550G>A	c.(4549-4551)gGa>gAa	p.G1517E	SCN3A_ENST00000540861.1_5'UTR|SCN3A_ENST00000465043.1_5'UTR|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1468E|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1517E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1517					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)	AAAGACCATTCCTTGGAATTT	0.363																																																	0								ENSG00000153253						92	82	86					2																	165949021		2203	4300	6503	SCN3A	SO:0001583	missense	0			-	HGNC	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.4550G>A	2.37:g.165949021C>T	ENSP00000353206:p.Gly1517Glu	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.G1517E	ENST00000360093.3	37	c.4550		2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725863	0.89298	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96011	-3.88;-3.88;-3.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	M	0.89214	3.015	0.80722	D	1	D;P;D	0.89917	1.0;0.801;1.0	D;P;D	0.97110	1.0;0.6;0.991	D	0.98364	1.0550	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1468;1468;1517	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	E	1517;1517;1468	ENSP00000353206:G1517E;ENSP00000283254:G1517E;ENSP00000386726:G1468E	ENSP00000283254:G1517E	G	-	2	0	SCN3A	165657267	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.776000	0.85560	2.894000	0.99253	0.591000	0.81541	GGA	-	NULL		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		C	NM_006922	-		165949021	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	165949021	C	T	165949021	3	4	112	1	0	0	0	0	1	0	0	0	13926	855	30	2	1460	2	SCN3A	2	165949021	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2233	165949021	77250352	175	7670											
SCN3A	6328	genome.wustl.edu	37	chr2	165984416	165984416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctatcttattgccttcatGgatttctataacttttggct	6	8	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:165984416G>A	ENST00000360093.3	-	18	3609	c.3118C>T	c.(3118-3120)Cat>Tat	p.H1040Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.H991Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.H1040Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1040					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)	TTGCCTTCATGGATTTCTATA	0.363																																																	0								ENSG00000153253						96	99	98					2																	165984416		2203	4300	6503	SCN3A	SO:0001583	missense	0			-	HGNC	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.3118C>T	2.37:g.165984416G>A	ENSP00000353206:p.His1040Tyr	Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.H1040Y	ENST00000360093.3	37	c.3118		2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069111	0.36470	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	6.04	5.11	0.69529	Sodium ion transport-associated (1);	0.830523	0.10549	N	0.661755	T	0.69441	0.3111	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B	0.22414	0.022;0.002;0.001;0.001;0.069	B;B;B;B;B	0.14023	0.007;0.01;0.008;0.008;0.01	T	0.62572	-0.6826	10	0.62326	D	0.03	.	16.8276	0.85935	0.0:0.1283:0.8717:0.0	.	1040;991;991;991;1040	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1040;1040;991;991	ENSP00000353206:H1040Y;ENSP00000283254:H1040Y;ENSP00000386726:H991Y;ENSP00000403348:H991Y	ENSP00000283254:H1040Y	H	-	1	0	SCN3A	165692662	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	6.804000	0.75186	2.873000	0.98535	0.561000	0.74099	CAT	-	pfam_Na_trans_assoc		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		G	NM_006922	-		165984416	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	SNP	1.000	A	A	165984416	G	A	165984416	3	1	112	1	0	0	0	0	1	0	0	0	13926	1348	47	2	2928	2	SCN3A	2	165984416	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	35395	165984416	77214957	176	7671											
SCN1A	6323	genome.wustl.edu	37	chr2	166850927	166850927	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accattccttgaaatttgttCtgtagagaaatagaaatgct	7	6	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:166850927C>T	ENST00000303395.4	-	25	4581		c.e25-1		SCN1A_ENST00000423058.2_Splice_Site|SCN1A_ENST00000375405.3_Splice_Site|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Splice_Site			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						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)	GAAATTTGTTCTGTAGAGAAA	0.343																																																	0								ENSG00000144285						75	71	72					2																	166850927		2202	4300	6502	SCN1A	SO:0001630	splice_region_variant	0			-	HGNC	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.4582-1G>A	2.37:g.166850927C>T		Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP							-	e25-1	ENST00000303395.4	37	c.4582-1	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674172	0.88445	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166559173	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.688000	0.84153	2.719000	0.93026	0.555000	0.69702	.	-	-		0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920	-	Intron	166850927	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	166850927	C	T	166850927	5	4	112	1	0	0	0	0	0	0	1	0	13922	927	32	2	1456	2	SCN1A	2	166850927	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	866511	166850927	76348446	177	7672											
SCN7A	6332	genome.wustl.edu	37	chr2	167301398	167301398	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaaatggtgccattataatCctatggacaaactctttcaa	6	8	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:167301398C>T	ENST00000409855.1	-	12	1626	c.1500G>A	c.(1498-1500)agG>agA	p.R500R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	500					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCATTATAATCCTATGGACAA	0.328																																																	0								ENSG00000136546						71	69	70					2																	167301398		1818	4086	5904	SCN7A	SO:0001819	synonymous_variant	0			-	HGNC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1500G>A	2.37:g.167301398C>T		Somatic	0	112	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	66	26.67		Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R500	ENST00000409855.1	37	c.1500	CCDS46442.1	2																																																																																			-	NULL		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	protein_coding	OTTHUMT00000333745.1	C		-		167301398	-1	no_errors	ENST00000409855	ensembl	human	known	74_37	silent	SNP	0.002	T	T	167301398	C	T	167301398	2	4	112	1	0	0	0	0	0	0	0	1	13931	854	30	2		2	SCN7A	2	167301398	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	450471	167301398	75897975	178	7673											
XIRP2	129446	genome.wustl.edu	37	chr2	168105327	168105327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccagcagtgaacacacGgagacaaagcagaacgttat	10	9	0	4	rs575664263		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:168105327G>A	ENST00000409195.1	+	9	7514	c.7425G>A	c.(7423-7425)acG>acA	p.T2475T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T2253T|XIRP2_ENST00000295237.9_Silent_p.T2475T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					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						GTGAACACACGGAGACAAAGC	0.398																																																	0								ENSG00000163092						80	78	78					2																	168105327		1922	4136	6058	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	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.7425G>A	2.37:g.168105327G>A		Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	41	39.71	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP							pfam_Actin-binding_Xin_repeat	p.T2475	ENST00000409195.1	37	c.7425	CCDS42769.1	2																																																																																			-	NULL		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381	-		168105327	1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	0.001	A	A	168105327	G	A	168105327	2	1	112	1	0	0	0	0	0	0	0	1	17437	1103	39	1		1	XIRP2	2	168105327	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	803929	168105327	75094046	179	7674											
LRP2	4036	genome.wustl.edu	37	chr2	170066148	170066148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccacatgcagtgcgtttCgtcctggaagttaagaaaag	10	9	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:170066148C>T	ENST00000263816.3	-	38	6569	c.6284G>A	c.(6283-6285)cGa>cAa	p.R2095Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2095					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAGTGCGTTTCGTCCTGGAAG	0.413																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000081479						71	64	66					2																	170066148		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6284G>A	2.37:g.170066148C>T	ENSP00000263816:p.Arg2095Gln	Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2095Q	ENST00000263816.3	37	c.6284	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546578	0.65198	.	.	ENSG00000081479	ENST00000263816	D	0.91124	-2.79	5.8	5.8	0.92144	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92413	0.5939	10	0.30078	T	0.28	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	2095	P98164	LRP2_HUMAN	Q	2095	ENSP00000263816:R2095Q	ENSP00000263816:R2095Q	R	-	2	0	LRP2	169774394	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	6.050000	0.71063	2.748000	0.94277	0.655000	0.94253	CGA	-	smart_LDLR_classB_rpt		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-		170066148	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170066148	C	T	170066148	3	4	112	1	0	0	0	0	1	0	0	0	8958	884	31	1	7851	1	LRP2	2	170066148	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1960821	170066148	73133225	180	7675											
LRP2	4036	genome.wustl.edu	37	chr2	170093634	170093634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgggatctaatgctAgtcctcttggatttgttagg	10	7	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:170093634A>G	ENST00000263816.3	-	28	4955	c.4670T>C	c.(4669-4671)cTa>cCa	p.L1557P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1557					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ATCTAATGCTAGTCCTCTTGG	0.373																																																	0								ENSG00000081479						131	129	130					2																	170093634		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4670T>C	2.37:g.170093634A>G	ENSP00000263816:p.Leu1557Pro	Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L1557P	ENST00000263816.3	37	c.4670	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388062	0.82902	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99727	1.1011	10	0.87932	D	0	.	15.5799	0.76425	1.0:0.0:0.0:0.0	.	1557	P98164	LRP2_HUMAN	P	1557	ENSP00000263816:L1557P	ENSP00000263816:L1557P	L	-	2	0	LRP2	169801880	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.255000	0.95524	2.133000	0.65898	0.528000	0.53228	CTA	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.373	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	A	NM_004525	-		170093634	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	G	G	170093634	A	G	170093634	3	3	112	1	0	0	0	0	1	0	0	0	8958	420	15	5	9505	5	LRP2	2	170093634	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	27486	170093634	73105739	181	7676											
MYO3B	140469	genome.wustl.edu	37	chr2	171055893	171055893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagtgaaaattctggatCcagtcagtgtaagtaacagt	10	7	2	1	rs369752113		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:171055893C>T	ENST00000408978.4	+	2	321	c.178C>T	c.(178-180)Cca>Tca	p.P60S	MYO3B_ENST00000409044.3_Missense_Mutation_p.P60S|MYO3B_ENST00000334231.6_Missense_Mutation_p.P69S|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AATTCTGGATCCAGTCAGTGT	0.368																																																	0								ENSG00000071909	C	SER/PRO,SER/PRO,SER/PRO	1,3753		0,1,1876	69	69	69		178,178,178	4.7	1	2		69	0,8192		0,0,4096	no	missense,missense,missense	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	74,74,74	0,1,5972	TT,TC,CC		0.0,0.0266,0.0084	benign,benign,benign	60/1315,60/1276,60/1342	171055893	1,11945	1877	4096	5973	MYO3B	SO:0001583	missense	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.178C>T	2.37:g.171055893C>T	ENSP00000386213:p.Pro60Ser	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P69S	ENST00000408978.4	37	c.205	CCDS42773.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.182913|2.182913	0.38511|0.38511	2.66E-4|2.66E-4	0.0|0.0	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08|.	5.55|5.55	4.67|4.67	0.58626|0.58626	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|T	0.38241|0.38241	0.1033|0.1033	N|N	0.10685|0.10685	0.025|0.025	0.50813|0.50813	D|D	0.999892|0.999892	B;B;B;B|.	0.18013|.	0.015;0.025;0.007;0.025|.	B;B;B;B|.	0.24269|.	0.02;0.034;0.005;0.052|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.21014|.	T|.	0.42|.	.|.	14.7734|14.7734	0.69696|0.69696	0.0:0.9296:0.0:0.0704|0.0:0.9296:0.0:0.0704	.|.	60;60;60;60|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	S|F	60;60;59;69;69|59	ENSP00000386497:P60S;ENSP00000386213:P60S;ENSP00000446237:P69S;ENSP00000335100:P69S|.	ENSP00000314213:P59S|.	P|S	+|+	1|2	0|0	MYO3B|MYO3B	170764139|170764139	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.941000|0.941000	0.58515|0.58515	5.957000|5.957000	0.70323|0.70323	1.324000|1.324000	0.45282|0.45282	0.563000|0.563000	0.77884|0.77884	CCA|TCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	C		-		171055893	1	no_errors	ENST00000334231	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171055893	C	T	171055893	3	4	112	1	0	0	0	0	1	0	0	0	10079	855	30	2	184	2	MYO3B	2	171055893	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	962259	171055893	72143480	182	7677											
MYO3B	140469	genome.wustl.edu	37	chr2	171256745	171256745	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgggattttgaatattggGaacattgagttcgcagctat	12	5	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:171256745G>A	ENST00000408978.4	+	17	1982	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	MYO3B_ENST00000409044.3_Silent_p.G613G|MYO3B_ENST00000334231.6_Silent_p.G622G|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	613	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGAATATTGGGAACATTGAGT	0.393																																																	0								ENSG00000071909						228	206	213					2																	171256745		1858	4106	5964	MYO3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1839G>A	2.37:g.171256745G>A		Somatic	0	104	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	44	46.34	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.G622	ENST00000408978.4	37	c.1866	CCDS42773.1	2																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.393	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	G		-		171256745	1	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	SNP	0.998	A	A	171256745	G	A	171256745	2	1	112	1	0	0	0	0	0	0	0	1	10079	1161	41	2		2	MYO3B	2	171256745	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	200852	171256745	71942628	183	7678											
MYO3B	140469	genome.wustl.edu	37	chr2	171258031	171258031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgaagagctccaggaGgccctcacctcccactgtgt	10	16	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:171258031G>A	ENST00000408978.4	+	18	2102	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E	MYO3B_ENST00000409044.3_Silent_p.E653E|MYO3B_ENST00000334231.6_Silent_p.E662E|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	653	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGCTCCAGGAGGCCCTCACCT	0.552																																																	0								ENSG00000071909						81	80	80					2																	171258031		1956	4159	6115	MYO3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1959G>A	2.37:g.171258031G>A		Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.E662	ENST00000408978.4	37	c.1986	CCDS42773.1	2																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.552	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	G		-		171258031	1	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	SNP	0.996	A	A	171258031	G	A	171258031	2	1	112	1	0	0	0	0	0	0	0	1	10079	991	35	2		2	MYO3B	2	171258031	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1286	171258031	71941342	184	7679											
CYBRD1	79901	genome.wustl.edu	37	chr2	172411076	172411076	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccgccagaaggtgttttCgtaaatacgcttggccttct	9	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:172411076C>T	ENST00000321348.4	+	4	798	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CYBRD1_ENST00000375252.3_Missense_Mutation_p.R131C|CYBRD1_ENST00000409484.1_Silent_p.F142F	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	200	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						AAGGTGTTTTCGTAAATACGC	0.443																																																	0								ENSG00000071967						76	72	74					2																	172411076		2203	4300	6503	CYBRD1	SO:0001819	synonymous_variant	0			-	HGNC	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.600C>T	2.37:g.172411076C>T		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP							NULL	p.R131C	ENST00000321348.4	37	c.391	CCDS2244.1	2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633920	0.47049	.	.	ENSG00000071967	ENST00000375252	.	.	.	5.16	-2.47	0.06442	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.27442	N	0.953691	B	0.09022	0.002	B	0.01281	0.0	T	0.36601	-0.9741	7	0.87932	D	0	-20.2286	9.6213	0.39723	0.0:0.1363:0.1246:0.7392	.	131	Q53TN4-2	.	C	131	.	ENSP00000364401:R131C	R	+	1	0	CYBRD1	172119322	0.990000	0.36364	0.025000	0.17156	0.721000	0.41392	0.208000	0.17415	-0.357000	0.08175	0.655000	0.94253	CGT	-	NULL		0.443	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	protein_coding	OTTHUMT00000255344.2	C	NM_024843	-		172411076	1	no_errors	ENST00000375252	ensembl	human	known	74_37	missense	SNP	0.363	T	T	172411076	C	T	172411076	2	4	112	1	0	0	0	0	0	0	0	1	4136	884	31	1		1	CYBRD1	2	172411076	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1153045	172411076	70788297	185	7680											
SLC25A12	8604	genome.wustl.edu	37	chr2	172644335	172644335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatgctgagggcccttcttCccggagaatcttcctgaaac	9	12	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:172644335C>T	ENST00000422440.2	-	16	1745	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.E463K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	570					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GGCCCTTCTTCCCGGAGAATC	0.582																																																	0								ENSG00000115840						71	71	71					2																	172644335		2203	4300	6503	SLC25A12	SO:0001583	missense	0			-	HGNC	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1708G>A	2.37:g.172644335C>T	ENSP00000388658:p.Glu570Lys	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	B3KR64|Q96AM8	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E570K	ENST00000422440.2	37	c.1708	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.904777	0.97087	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79845	-1.31;-1.31	5.24	5.24	0.73138	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.28400	0.85	0.80722	D	1	D;D	0.63046	0.971;0.992	P;D	0.67900	0.902;0.954	D	0.85965	0.1473	10	0.62326	D	0.03	-17.5988	19.1982	0.93698	0.0:1.0:0.0:0.0	.	463;570	B3KR64;O75746	.;CMC1_HUMAN	K	570;463	ENSP00000388658:E570K;ENSP00000376371:E463K	ENSP00000376371:E463K	E	-	1	0	SLC25A12	172352581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.613000	0.88420	0.650000	0.86243	GAA	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.582	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	protein_coding	OTTHUMT00000259010.2	C	NM_003705	-		172644335	-1	no_errors	ENST00000422440	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172644335	C	T	172644335	3	4	112	1	0	0	0	0	1	0	0	0	14482	864	30	2	340	2	SLC25A12	2	172644335	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	233259	172644335	70555038	186	7681											
SLC25A12	8604	genome.wustl.edu	37	chr2	172712396	172712396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaactggaaagccactatGaacatggaatctggagcaca	9	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:172712396G>A	ENST00000422440.2	-	4	310	c.273C>T	c.(271-273)ttC>ttT	p.F91F	SLC25A12_ENST00000392592.4_Intron|RNU6-182P_ENST00000516970.1_RNA|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGCCACTATGAACATGGAAT	0.373																																																	0								ENSG00000115840						184	190	188					2																	172712396		2203	4300	6503	SLC25A12	SO:0001819	synonymous_variant	0			-	HGNC	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.273C>T	2.37:g.172712396G>A		Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	56	27.27	B3KR64|Q96AM8	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.F91	ENST00000422440.2	37	c.273	CCDS33327.1	2																																																																																			-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.373	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	protein_coding	OTTHUMT00000259010.2	G	NM_003705	-		172712396	-1	no_errors	ENST00000422440	ensembl	human	known	74_37	silent	SNP	1.000	A	A	172712396	G	A	172712396	2	1	112	1	0	0	0	0	0	0	0	1	14482	1281	45	2		2	SLC25A12	2	172712396	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	68061	172712396	70486977	187	7682											
CHN1	1123	genome.wustl.edu	37	chr2	175666464	175666464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccatgaggtaccggagGgtttcgcagtgagcaggtgg	18	7	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:175666464G>A	ENST00000409900.3	-	12	1492	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	CHN1_ENST00000409597.1_Silent_p.T209T|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Silent_p.T367T|CHN1_ENST00000295497.7_Silent_p.T268T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	393	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GGTACCGGAGGGTTTCGCAGT	0.418			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0								ENSG00000128656						181	184	183					2																	175666464		1976	4168	6144	CHN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1179C>T	2.37:g.175666464G>A		Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	49	42.35	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP							pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.T393	ENST00000409900.3	37	c.1179	CCDS46455.1	2																																																																																			-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom		0.418	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	protein_coding	OTTHUMT00000334453.1	G	NM_001822	-		175666464	-1	no_errors	ENST00000409900	ensembl	human	known	74_37	silent	SNP	0.810	A	A	175666464	G	A	175666464	2	1	112	1	0	0	0	0	0	0	0	1	3364	1219	43	2		2	CHN1	2	175666464	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2954068	175666464	67532909	188	7683											
PRKRA	8575	genome.wustl.edu	37	chr2	179315108	179315108	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatacctgaatcggtgttttCcctggcttagctgttatcat	8	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179315108C>T	ENST00000325748.4	-	2	296	c.96G>A	c.(94-96)ggG>ggA	p.G32G	DFNB59_ENST00000375129.4_5'Flank|DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000432031.2_Silent_p.G21G|PRKRA_ENST00000487082.1_Silent_p.G7G|PRKRA_ENST00000438687.3_5'UTR	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	32	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TCGGTGTTTTCCCTGGCTTAG	0.438																																					Melanoma(200;68 3001 23825 48764)												0								ENSG00000180228						234	258	250					2																	179315108		2203	4300	6503	PRKRA	SO:0001819	synonymous_variant	0			-	HGNC	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.96G>A	2.37:g.179315108C>T		Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	91	9.90	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP							pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.G32	ENST00000325748.4	37	c.96	CCDS2279.1	2																																																																																			-	NULL		0.438	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	protein_coding	OTTHUMT00000255782.2	C	NM_003690	-		179315108	-1	no_errors	ENST00000325748	ensembl	human	known	74_37	silent	SNP	1.000	T	T	179315108	C	T	179315108	2	4	112	1	0	0	0	0	0	0	0	1	12529	842	30	2		2	PRKRA	2	179315108	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3648644	179315108	63884265	189	7684											
TTN	7273	genome.wustl.edu	37	chr2	179426428	179426428	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatactctgcaacaacagctGaagattcactgtaggagctc	9	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179426428G>A	ENST00000591111.1	-	276	79732	c.79508C>T	c.(79507-79509)tCa>tTa	p.S26503L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19204L|TTN_ENST00000460472.2_Missense_Mutation_p.S19079L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25576L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S19271L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28144L			Q8WZ42	TITIN_HUMAN	titin	26503	Fibronectin type-III 92. {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)			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)			AACAACAGCTGAAGATTCACT	0.458																																																	0								ENSG00000155657						92	93	93					2																	179426428		1894	4117	6011	TTN	SO:0001583	missense	0			-	HGNC	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.79508C>T	2.37:g.179426428G>A	ENSP00000465570:p.Ser26503Leu	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S25576L	ENST00000591111.1	37	c.76727		2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481638	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.01	6.01	0.97437	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	M	0.64567	1.98	0.35037	D	0.759318	B;B;B;B	0.12630	0.006;0.006;0.006;0.006	B;B;B;B	0.14023	0.005;0.005;0.01;0.01	T	0.57365	-0.7824	9	0.87932	D	0	.	20.5073	0.99209	0.0:0.0:1.0:0.0	.	19079;19204;19271;26503	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25576;19079;19271;19204;19077	ENSP00000343764:S25576L;ENSP00000434586:S19079L;ENSP00000340554:S19271L;ENSP00000352154:S19204L	ENSP00000340554:S19271L	S	-	2	0	TTN	179134674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.700000	0.68318	2.855000	0.98099	0.585000	0.79938	TCA	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179426428	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.993	A	A	179426428	G	A	179426428	3	1	112	1	0	0	0	0	1	0	0	0	16742	1294	45	2	23696	2	TTN	2	179426428	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	111320	179426428	63772945	190	7685											
TTN	7273	genome.wustl.edu	37	chr2	179451983	179451983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagcttgttttcttaacttCtggggtaacggtcgaccatg	11	8	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179451983C>T	ENST00000591111.1	-	257	59256	c.59032G>A	c.(59032-59034)Gaa>Aaa	p.E19678K	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12379K|TTN_ENST00000460472.2_Missense_Mutation_p.E12254K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18751K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12446K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21319K			Q8WZ42	TITIN_HUMAN	titin	19678	Fibronectin type-III 42. {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)			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)			TTCTTAACTTCTGGGGTAACG	0.498																																																	0								ENSG00000155657						125	124	125					2																	179451983		1924	4133	6057	TTN	SO:0001583	missense	0			-	HGNC	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.59032G>A	2.37:g.179451983C>T	ENSP00000465570:p.Glu19678Lys	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E18751K	ENST00000591111.1	37	c.56251		2	.	.	.	.	.	.	.	.	.	.	C	32	5.108758	0.94292	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53254	0.1785	L	0.39566	1.225	0.58432	D	0.999999	P;P;P;P	0.43938	0.822;0.822;0.822;0.822	B;B;B;B	0.43536	0.423;0.423;0.423;0.423	T	0.55927	-0.8063	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12254;12379;12446;19678	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18751;12254;12446;12379;12252	ENSP00000343764:E18751K;ENSP00000434586:E12254K;ENSP00000340554:E12446K;ENSP00000352154:E12379K	ENSP00000340554:E12446K	E	-	1	0	TTN	179160229	1.000000	0.71417	0.981000	0.43875	0.925000	0.55904	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179451983	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179451983	C	T	179451983	3	4	112	1	0	0	0	0	1	0	0	0	16742	922	32	2	44248	2	TTN	2	179451983	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	25555	179451983	63747390	191	7686											
TTN	7273	genome.wustl.edu	37	chr2	179458060	179458060	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctttggtaactctagcCcatcgtttagacatagtttc	8	9	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179458060C>T	ENST00000591111.1	-	249	54176	c.53952G>A	c.(53950-53952)tgG>tgA	p.W17984*	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W10685*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W10560*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W17057*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W10752*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W19625*			Q8WZ42	TITIN_HUMAN	titin	17984	Fibronectin type-III 30. {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)			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)			TAACTCTAGCCCATCGTTTAG	0.403																																																	0								ENSG00000155657						156	156	156					2																	179458060		1867	4096	5963	TTN	SO:0001587	stop_gained	0			-	HGNC	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.53952G>A	2.37:g.179458060C>T	ENSP00000465570:p.Trp17984*	Somatic	0	130	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	56	34.12	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	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.W17057*	ENST00000591111.1	37	c.51171		2	.	.	.	.	.	.	.	.	.	.	C	60	50.387982	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	17057;10560;10752;10685;10558	.	ENSP00000340554:W10752X	W	-	3	0	TTN	179166306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.710000	0.84655	2.937000	0.99478	0.650000	0.86243	TGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179458060	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	179458060	C	T	179458060	4	4	112	1	0	0	0	0	0	1	0	0	16742	624	22	2	49360	2	TTN	2	179458060	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6077	179458060	63741313	192	7687											
TTN	7273	genome.wustl.edu	37	chr2	179477781	179477781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcttttacagttggttttCcagggggccatggaggatct	12	8	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179477781C>T	ENST00000591111.1	-	215	44968	c.44744G>A	c.(44743-44745)gGa>gAa	p.G14915E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7616E|TTN_ENST00000460472.2_Missense_Mutation_p.G7491E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13988E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7683E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G16556E			Q8WZ42	TITIN_HUMAN	titin	14915	Fibronectin type-III 8. {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)			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)			AGTTGGTTTTCCAGGGGGCCA	0.363																																																	0								ENSG00000155657						76	77	76					2																	179477781		1884	4119	6003	TTN	SO:0001583	missense	0			-	HGNC	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.44744G>A	2.37:g.179477781C>T	ENSP00000465570:p.Gly14915Glu	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	30.19	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G13988E	ENST00000591111.1	37	c.41963		2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301015	0.60195	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72358	0.3450	M	0.64260	1.97	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	T	0.73553	-0.3946	9	0.87932	D	0	.	19.8689	0.96843	0.0:1.0:0.0:0.0	.	7491;7616;7683;14915	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13988;7491;7683;7616;7491	ENSP00000343764:G13988E;ENSP00000434586:G7491E;ENSP00000340554:G7683E;ENSP00000352154:G7616E	ENSP00000340554:G7683E	G	-	2	0	TTN	179186026	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.770000	0.85390	2.695000	0.91970	0.557000	0.71058	GGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179477781	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179477781	C	T	179477781	3	4	112	1	0	0	0	0	1	0	0	0	16742	855	30	2	58418	2	TTN	2	179477781	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	19721	179477781	63721592	193	7688											
TTN	7273	genome.wustl.edu	37	chr2	179485012	179485012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctctctggagagctgGcaggagaagacagcgtcatc	13	10	3	3	rs368200299		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179485012G>A	ENST00000591111.1	-	198	41537	c.41313C>T	c.(41311-41313)tgC>tgT	p.C13771C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.C6472C|TTN_ENST00000460472.2_Silent_p.C6347C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.C12844C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.C6539C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.C15412C			Q8WZ42	TITIN_HUMAN	titin	13771	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)			TGGAGAGCTGGCAGGAGAAGA	0.418																																																	0								ENSG00000155657	G	,,,	0,3736		0,0,1868	94	92	93		19041,38532,19416,19617	2.7	1	2		93	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	,,,	6347/26927,12844/33424,6472/27052,6539/27119	179485012	1,11955	1868	4110	5978	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.41313C>T	2.37:g.179485012G>A		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C12844	ENST00000591111.1	37	c.38532		2																																																																																			-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179485012	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179485012	G	A	179485012	2	1	112	1	0	0	0	0	0	0	0	1	16742	1195	42	2		2	TTN	2	179485012	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7231	179485012	63714361	194	7689											
TTN	7273	genome.wustl.edu	37	chr2	179494117	179494117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtcgaaggtggctgtttCccctgcagtcacggtgacat	13	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179494117C>T	ENST00000591111.1	-	190	39636	c.39412G>A	c.(39412-39414)Gaa>Aaa	p.E13138K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5839K|TTN_ENST00000460472.2_Missense_Mutation_p.E5714K|TTN_ENST00000342992.6_Missense_Mutation_p.E12211K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5906K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14779K			Q8WZ42	TITIN_HUMAN	titin	13138	Ig-like 87.				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)			GTGGCTGTTTCCCCTGCAGTC	0.473																																																	0								ENSG00000155657						120	119	119					2																	179494117		1972	4177	6149	TTN	SO:0001583	missense	0			-	HGNC	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.39412G>A	2.37:g.179494117C>T	ENSP00000465570:p.Glu13138Lys	Somatic	1	99	1		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	49	25.76	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E12211K	ENST00000591111.1	37	c.36631		2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087276	0.76642	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.95	5.95	0.96441	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	0.68320	0.2988	L	0.58354	1.805	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	0.68078	-0.5504	9	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	5714;5839;5906;13138	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12211;5714;5906;5839;5714	ENSP00000343764:E12211K;ENSP00000434586:E5714K;ENSP00000340554:E5906K;ENSP00000352154:E5839K	ENSP00000340554:E5906K	E	-	1	0	TTN	179202362	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.770000	0.85390	2.826000	0.97356	0.563000	0.77884	GAA	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179494117	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179494117	C	T	179494117	3	4	112	1	0	0	0	0	1	0	0	0	16742	864	30	2	63850	2	TTN	2	179494117	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9105	179494117	63705256	195	7690											
TTN	7273	genome.wustl.edu	37	chr2	179500409	179500409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtttcacatgctggtctCgtataggtttcaccagccaa	10	10	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179500409C>T	ENST00000591111.1	-	177	36943	c.36719G>A	c.(36718-36720)cGa>cAa	p.R12240Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4941Q|TTN_ENST00000460472.2_Missense_Mutation_p.R4816Q|TTN_ENST00000342992.6_Missense_Mutation_p.R11313Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5008Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13881Q			Q8WZ42	TITIN_HUMAN	titin	12240	Ig-like 82.				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)			ATGCTGGTCTCGTATAGGTTT	0.358																																																	0								ENSG00000155657						47	42	43					2																	179500409		1822	4083	5905	TTN	SO:0001583	missense	0			-	HGNC	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.36719G>A	2.37:g.179500409C>T	ENSP00000465570:p.Arg12240Gln	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R11313Q	ENST00000591111.1	37	c.33938		2	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859474	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	6.05	6.05	0.98169	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58466	0.2124	M	0.63428	1.95	0.40586	D	0.981443	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.54346	0.54;0.54;0.54;0.749	T	0.60073	-0.7334	9	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	4816;4941;5008;12240	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	11313;4816;5008;4941;4816	ENSP00000343764:R11313Q;ENSP00000434586:R4816Q;ENSP00000340554:R5008Q;ENSP00000352154:R4941Q	ENSP00000340554:R5008Q	R	-	2	0	TTN	179208654	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.646000	0.61411	2.878000	0.98634	0.650000	0.86243	CGA	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179500409	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179500409	C	T	179500409	3	4	112	1	0	0	0	0	1	0	0	0	16742	884	31	1	66595	1	TTN	2	179500409	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6292	179500409	63698964	196	7691											
TTN	7273	genome.wustl.edu	37	chr2	179584349	179584349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacttcaaagctatataatCctttgtcactcatttcggca	4	11	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179584349C>T	ENST00000591111.1	-	80	23143	c.22919G>A	c.(22918-22920)gGa>gAa	p.G7640E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6713E|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G7957E			Q8WZ42	TITIN_HUMAN	titin	13190	Ig-like 58.				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)			GCTATATAATCCTTTGTCACT	0.368																																																	0								ENSG00000155657						180	172	175					2																	179584349		1867	4107	5974	TTN	SO:0001583	missense	0			-	HGNC	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.22919G>A	2.37:g.179584349C>T	ENSP00000465570:p.Gly7640Glu	Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G6713E	ENST00000591111.1	37	c.20138		2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667824	0.47677	.	.	ENSG00000155657	ENST00000342992	T	0.77750	-1.12	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94604	0.8261	H	0.99838	4.83	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96473	0.9350	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7640	Q8WZ42	TITIN_HUMAN	E	6713	ENSP00000343764:G6713E	ENSP00000343764:G6713E	G	-	2	0	TTN	179292594	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.999000	0.70665	2.894000	0.99253	0.655000	0.94253	GGA	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179584349	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179584349	C	T	179584349	3	4	112	1	0	0	0	0	1	0	0	0	16742	855	30	2	80783	2	TTN	2	179584349	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	83940	179584349	63615024	197	7692											
TTN	7273	genome.wustl.edu	37	chr2	179592524	179592524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccttttagtattgccTtaaattccactgtagaatca	6	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179592524T>C	ENST00000591111.1	-	66	19054	c.18830A>G	c.(18829-18831)aAg>aGg	p.K6277R	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K5350R|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K6594R			Q8WZ42	TITIN_HUMAN	titin	13054	Ig-like 44.				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)			TAGTATTGCCTTAAATTCCAC	0.373																																																	0								ENSG00000155657						113	111	112					2																	179592524		1851	4089	5940	TTN	SO:0001583	missense	0			-	HGNC	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.18830A>G	2.37:g.179592524T>C	ENSP00000465570:p.Lys6277Arg	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	40	43.66	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K5350R	ENST00000591111.1	37	c.16049		2	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669753	0.29693	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69762	0.3147	N	0.22421	0.69	0.80722	D	1	D	0.54397	0.966	P	0.59595	0.86	T	0.74109	-0.3771	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	6277	Q8WZ42	TITIN_HUMAN	R	5350	ENSP00000343764:K5350R	ENSP00000343764:K5350R	K	-	2	0	TTN	179300769	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.247000	0.72411	2.291000	0.77112	0.533000	0.62120	AAG	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179592524	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	C	C	179592524	T	C	179592524	3	2	112	1	0	0	0	0	1	0	0	0	16742	1609	56	5	84928	5	TTN	2	179592524	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	8175	179592524	63606849	198	7693											
TTN	7273	genome.wustl.edu	37	chr2	179611691	179611691	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtaggtgtgtagaaatgctCatttggtgtaccgtcttccc	11	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179611691C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E5146K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TAGAAATGCTCATTTGGTGTA	0.418																																																	0								ENSG00000155657						136	133	134					2																	179611691		2203	4299	6502	TTN	SO:0001627	intron_variant	0			-	HGNC	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.10361-5043G>A	2.37:g.179611691C>T		Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	34	40.35	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							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E5146K	ENST00000591111.1	37	c.15436		2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373006	0.61624	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62788	0.0	6.06	6.06	0.98353	.	.	.	.	.	T	0.70378	0.3217	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65429	-0.6170	9	0.30078	T	0.28	.	18.3939	0.90492	0.0:1.0:0.0:0.0	.	5146	Q8WZ42-6	.	K	5146;427	ENSP00000354117:E5146K	ENSP00000304714:E427K	E	-	1	0	TTN	179319936	0.995000	0.38212	0.538000	0.28064	0.265000	0.26407	4.969000	0.63735	2.882000	0.98803	0.655000	0.94253	GAG	-	NULL		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179611691	-1	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	SNP	0.997	T	T	179611691	C	T	179611691	1	4	112	0	1	0	0	0	0	0	0	0	16742	835	29	2		2	TTN	2	179611691	Intron	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	19167	179611691	63587682	199	7694											
TTN	7273	genome.wustl.edu	37	chr2	179637975	179637975	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatatttagaactgggcttGatttccttgtccttaaaatt	6	6	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179637975G>A	ENST00000591111.1	-	33	7940	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.I2572I|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Silent_p.I2526I|TTN_ENST00000460472.2_Silent_p.I2526I|TTN_ENST00000342992.6_Silent_p.I2572I|TTN_ENST00000342175.6_Silent_p.I2526I|TTN_ENST00000589042.1_Silent_p.I2572I			Q8WZ42	TITIN_HUMAN	titin	12895					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)			AACTGGGCTTGATTTCCTTGT	0.348																																																	0								ENSG00000155657						42	44	44					2																	179637975		2203	4300	6503	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.7716C>T	2.37:g.179637975G>A		Somatic	0	91	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	34	49.25	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I2572	ENST00000591111.1	37	c.7716		2																																																																																			-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179637975	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.879	A	A	179637975	G	A	179637975	2	1	112	1	0	0	0	0	0	0	0	1	16742	1280	45	2		2	TTN	2	179637975	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	26284	179637975	63561398	200	7695											
TTN	7273	genome.wustl.edu	37	chr2	179665273	179665273	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaaatcaagggagctctgGatttcggctccatcccggta	12	10	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179665273G>T	ENST00000591111.1	-	4	656	c.432C>A	c.(430-432)atC>atA	p.I144I	TTN_ENST00000360870.5_Silent_p.I144I|TTN_ENST00000359218.5_Silent_p.I144I|TTN_ENST00000460472.2_Silent_p.I144I|TTN_ENST00000342992.6_Silent_p.I144I|TTN_ENST00000342175.6_Silent_p.I144I|TTN_ENST00000589042.1_Silent_p.I144I			Q8WZ42	TITIN_HUMAN	titin	32762	Ig-like 2.				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)			GGGAGCTCTGGATTTCGGCTC	0.493																																																	0								ENSG00000155657						142	131	134					2																	179665273		2203	4300	6503	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.432C>A	2.37:g.179665273G>T		Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I144	ENST00000591111.1	37	c.432		2																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179665273	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	T	T	179665273	G	T	179665273	2	4	112	1	0	0	0	0	0	0	0	1	16742	1164	41	3		3	TTN	2	179665273	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	27298	179665273	63534100	201	7696											
ZNF385B	151126	genome.wustl.edu	37	chr2	180348039	180348039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgattggagtgatggaGcagctgggattagcctttgc	15	7	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:180348039G>A	ENST00000410066.1	-	6	1233	c.630C>T	c.(628-630)tgC>tgT	p.C210C	ZNF385B_ENST00000409692.1_Silent_p.C108C|ZNF385B_ENST00000336917.5_Silent_p.C108C|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.C134C	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	210	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAGTGATGGAGCAGCTGGGAT	0.448																																					Colon(155;204 2491 32774 51842)												0								ENSG00000144331						337	266	290					2																	180348039		2203	4300	6503	ZNF385B	SO:0001819	synonymous_variant	0			-	HGNC	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.630C>T	2.37:g.180348039G>A		Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	91	22.22	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP							pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.C210	ENST00000410066.1	37	c.630	CCDS33339.1	2																																																																																			-	NULL		0.448	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	protein_coding	OTTHUMT00000335972.1	G	NM_152520	-		180348039	-1	no_errors	ENST00000410066	ensembl	human	known	74_37	silent	SNP	1.000	A	A	180348039	G	A	180348039	2	1	112	1	0	0	0	0	0	0	0	1	17884	963	34	2		2	ZNF385B	2	180348039	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	682766	180348039	62851334	202	7697											
NEUROD1	4760	genome.wustl.edu	37	chr2	182543168	182543168	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccaagcgcagagtctcGattttggacagcttctgcgt	12	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:182543168G>A	ENST00000295108.3	-	2	877	c.420C>T	c.(418-420)atC>atT	p.I140I	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	140	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGAGTCTCGATTTTGGACA	0.582																																																	0								ENSG00000162992						76	74	75					2																	182543168		2203	4300	6503	NEUROD1	SO:0001819	synonymous_variant	0			-	HGNC	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.420C>T	2.37:g.182543168G>A		Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.68	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP							pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.I140	ENST00000295108.3	37	c.420	CCDS2283.1	2																																																																																			-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom		0.582	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	protein_coding	OTTHUMT00000255792.2	G	NM_002500	-		182543168	-1	no_errors	ENST00000295108	ensembl	human	known	74_37	silent	SNP	0.998	A	A	182543168	G	A	182543168	2	1	112	1	0	0	0	0	0	0	0	1	10350	1048	37	1		1	NEUROD1	2	182543168	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2195129	182543168	60656205	203	7698											
PDE1A	5136	genome.wustl.edu	37	chr2	183032974	183032974	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggttttacttaaaggtgtTtactgatgaataaactcaca	8	5	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:183032974T>G	ENST00000410103.1	-	15	1691	c.1608A>C	c.(1606-1608)taA>taC	p.*536Y	PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000351439.5_Nonstop_Mutation_p.*520Y|PDE1A_ENST00000358139.2_Nonstop_Mutation_p.*536Y|PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000536095.1_Intron|PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000409365.1_Intron	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTAAAGGTGTTTACTGATGAA	0.353																																																	0								ENSG00000115252						96	93	94					2																	183032974		2203	4300	6503	PDE1A	SO:0001578	stop_lost	0			-	HGNC		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1608A>C	2.37:g.183032974T>G		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	22.92	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Nonstop_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.*536Y	ENST00000410103.1	37	c.1608	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144743	0.37825	.	.	ENSG00000115252	ENST00000351439;ENST00000410103;ENST00000358139	.	.	.	3.12	1.96	0.26148	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0642	0.14574	0.0:0.1381:0.0:0.8619	.	.	.	.	Y	520;536;536	.	.	X	-	3	2	PDE1A	182741219	0.712000	0.27916	0.102000	0.21198	0.119000	0.20118	1.266000	0.33039	0.582000	0.29556	0.533000	0.62120	TAA	-	NULL		0.353	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	protein_coding	OTTHUMT00000334356.1	T		-		183032974	-1	no_errors	ENST00000358139	ensembl	human	known	74_37	nonstop	SNP	0.202	G	G	183032974	T	G	183032974	4	3	112	1	0	0	0	0	0	0	0	0	11635	1848	64	5	81	5	PDE1A	2	183032974	Nonstop_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	489806	183032974	60166399	204	7699											
ZNF804A	91752	genome.wustl.edu	37	chr2	185731112	185731112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggactatgctgagaaggAaaataccatagcaaaagctc	9	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:185731112A>C	ENST00000302277.6	+	2	722	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	43							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTGAGAAGGAAAATACCATA	0.363																																																	0								ENSG00000170396						61	60	60					2																	185731112		2203	4300	6503	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.128A>C	2.37:g.185731112A>C	ENSP00000303252:p.Glu43Ala	Somatic	0	85	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	59	10.61	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.E43A	ENST00000302277.6	37	c.128	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594618	0.86953	.	.	ENSG00000170396	ENST00000302277	T	0.10477	2.87	5.68	5.68	0.88126	.	0.135350	0.34200	N	0.004164	T	0.13927	0.0337	N	0.24115	0.695	0.48087	D	0.999585	D	0.59767	0.986	P	0.50659	0.647	T	0.01413	-1.1361	10	0.72032	D	0.01	-10.2156	15.4043	0.74866	1.0:0.0:0.0:0.0	.	43	Q7Z570	Z804A_HUMAN	A	43	ENSP00000303252:E43A	ENSP00000303252:E43A	E	+	2	0	ZNF804A	185439357	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.175000	0.77632	2.289000	0.77006	0.482000	0.46254	GAA	-	NULL		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	A	NM_194250	-		185731112	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	1.000	C	C	185731112	A	C	185731112	3	2	112	1	0	0	0	0	1	0	0	0	18177	246	9	5	134	5	ZNF804A	2	185731112	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2698138	185731112	57468261	205	7700											
ZNF804A	91752	genome.wustl.edu	37	chr2	185801484	185801484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactacgaaaccatcaatttCctatagctgtaatcctctat	3	11	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:185801484C>T	ENST00000302277.6	+	4	1955	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	454							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCAATTTCCTATAGCTGT	0.348																																																	0								ENSG00000170396						91	92	92					2																	185801484		2203	4300	6503	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1361C>T	2.37:g.185801484C>T	ENSP00000303252:p.Ser454Phe	Somatic	0	106	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	76	26.21	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.S454F	ENST00000302277.6	37	c.1361	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506751	0.85282	.	.	ENSG00000170396	ENST00000302277	T	0.15139	2.45	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000028	T	0.47284	0.1437	M	0.79693	2.465	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.48692	-0.9013	10	0.87932	D	0	-13.3818	18.5921	0.91217	0.0:1.0:0.0:0.0	.	454	Q7Z570	Z804A_HUMAN	F	454	ENSP00000303252:S454F	ENSP00000303252:S454F	S	+	2	0	ZNF804A	185509729	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.294000	0.78760	2.642000	0.89623	0.591000	0.81541	TCC	-	NULL		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	C	NM_194250	-		185801484	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	1.000	T	T	185801484	C	T	185801484	3	4	112	1	0	0	0	0	1	0	0	0	18177	855	30	2	1375	2	ZNF804A	2	185801484	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	70372	185801484	57397889	206	7701											
FSIP2	401024	genome.wustl.edu	37	chr2	186656683	186656683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaaattttgggtgctaTtaatgatggaaataagaaaa	9	1	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186656683T>G	ENST00000424728.1	+	16	4820	c.4820T>G	c.(4819-4821)aTt>aGt	p.I1607S	FSIP2_ENST00000343098.5_Missense_Mutation_p.I1696S|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1607										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGGGTGCTATTAATGATGGA	0.343																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.4820T>G	2.37:g.186656683T>G	ENSP00000401306:p.Ile1607Ser	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	57	16.18	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.I1696S	ENST00000424728.1	37	c.5087		2	.	.	.	.	.	.	.	.	.	.	t	3.503	-0.101515	0.06967	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.55930	0.49;0.49	4.9	-9.79	0.00494	.	2.641400	0.00969	N	0.003211	T	0.34308	0.0893	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	8	0.36615	T	0.2	.	2.0844	0.03642	0.3577:0.3318:0.1809:0.1296	.	.	.	.	S	1696;1607;1607	ENSP00000344403:I1696S;ENSP00000401306:I1607S	ENSP00000321903:I1607S	I	+	2	0	FSIP2	186364928	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.442000	0.02407	-3.078000	0.00251	-1.286000	0.01371	ATT	-	NULL		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	T	NM_173651	-		186656683	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.000	G	G	186656683	T	G	186656683	3	3	112	1	0	0	0	0	1	0	0	0	6077	1493	52	5	5149	5	FSIP2	2	186656683	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	855199	186656683	56542690	207	7702											
FSIP2	401024	genome.wustl.edu	37	chr2	186657368	186657368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggatcctttactttcGgaagcagatataaccatagt	8	7	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186657368G>A	ENST00000424728.1	+	16	5505	c.5505G>A	c.(5503-5505)tcG>tcA	p.S1835S	FSIP2_ENST00000343098.5_Silent_p.S1924S|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1835										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTTACTTTCGGAAGCAGATA	0.358																																																	0								ENSG00000188738																																			FSIP2	SO:0001819	synonymous_variant	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5505G>A	2.37:g.186657368G>A		Somatic	0	119	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	75	29.25	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP							NULL	p.S1924	ENST00000424728.1	37	c.5772		2																																																																																			-	NULL		0.358	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186657368	1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	SNP	0.980	A	A	186657368	G	A	186657368	2	1	112	1	0	0	0	0	0	0	0	1	6077	1103	39	1		1	FSIP2	2	186657368	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	685	186657368	56542005	208	7703											
FSIP2	401024	genome.wustl.edu	37	chr2	186662137	186662137	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagatagagactgtgaAggaagttgaagcctttactt	10	7	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186662137A>T	ENST00000424728.1	+	16	10274	c.10274A>T	c.(10273-10275)aAg>aTg	p.K3425M	FSIP2_ENST00000343098.5_Missense_Mutation_p.K3514M|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3425										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAGACTGTGAAGGAAGTTGAA	0.383																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.10274A>T	2.37:g.186662137A>T	ENSP00000401306:p.Lys3425Met	Somatic	0	219	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	99	23.85	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.K3514M	ENST00000424728.1	37	c.10541		2	.	.	.	.	.	.	.	.	.	.	A	6.824	0.521148	0.13005	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.51817	0.69;0.69	5.32	5.32	0.75619	.	0.329212	0.26297	N	0.025189	T	0.45094	0.1325	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.47394	-0.9121	8	0.87932	D	0	.	11.6113	0.51062	1.0:0.0:0.0:0.0	.	.	.	.	M	3514;3425;3425	ENSP00000344403:K3514M;ENSP00000401306:K3425M	ENSP00000321903:K3425M	K	+	2	0	FSIP2	186370382	0.968000	0.33430	0.087000	0.20705	0.048000	0.14542	3.963000	0.56773	2.233000	0.73108	0.455000	0.32223	AAG	-	NULL		0.383	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	A	NM_173651	-		186662137	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.086	T	T	186662137	A	T	186662137	3	4	112	1	0	0	0	0	1	0	0	0	6077	72	3	5	10603	5	FSIP2	2	186662137	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	4769	186662137	56537236	209	7704											
FSIP2	401024	genome.wustl.edu	37	chr2	186678369	186678369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaaatgatcttattgttcGattagtagctcatgatattg	7	4	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186678369G>A	ENST00000424728.1	+	18	19925	c.19925G>A	c.(19924-19926)cGa>cAa	p.R6642Q	FSIP2_ENST00000343098.5_Missense_Mutation_p.R6731Q			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6642										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTATTGTTCGATTAGTAGCT	0.323																																																	0								ENSG00000188738						54	53	53					2																	186678369		1817	4075	5892	FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19925G>A	2.37:g.186678369G>A	ENSP00000401306:p.Arg6642Gln	Somatic	0	133	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	84	16.83	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.R6731Q	ENST00000424728.1	37	c.20192		2	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422856	0.62733	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.63913	-0.07;-0.06	5.42	5.42	0.78866	.	0.129153	0.35838	N	0.002943	T	0.66479	0.2793	L	0.47190	1.495	0.31034	N	0.717062	.	.	.	.	.	.	T	0.70949	-0.4733	8	0.66056	D	0.02	.	14.5872	0.68335	0.0:0.0:1.0:0.0	.	.	.	.	Q	6731;6642	ENSP00000344403:R6731Q;ENSP00000401306:R6642Q	ENSP00000344403:R6731Q	R	+	2	0	FSIP2	186386614	0.284000	0.24287	0.855000	0.33649	0.010000	0.07245	3.570000	0.53834	2.820000	0.97059	0.650000	0.86243	CGA	-	NULL		0.323	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186678369	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.931	A	A	186678369	G	A	186678369	3	1	112	1	0	0	0	0	1	0	0	0	6077	1058	37	1	20262	1	FSIP2	2	186678369	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	16232	186678369	56521004	210	7705											
ITGAV	3685	genome.wustl.edu	37	chr2	187523819	187523819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttactatttttatggaatatCggttggattatagaacagct	8	4	0	1	rs200949549		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:187523819C>T	ENST00000261023.3	+	18	2048	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	ITGAV_ENST00000374907.3_Missense_Mutation_p.R556W|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.R546W	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	592					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)	TATGGAATATCGGTTGGATTA	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		16295	0		0	False		,,,				2504	0				Melanoma(58;108 1995 6081)												0								ENSG00000138448						101	100	100					2																	187523819		2203	4300	6503	ITGAV	SO:0001583	missense	0			-	HGNC		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.1774C>T	2.37:g.187523819C>T	ENSP00000261023:p.Arg592Trp	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	30.16	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R592W	ENST00000261023.3	37	c.1774	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032038	0.35893	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46451	0.87;0.87;0.87	6.07	1.1	0.20463	Integrin alpha-2 (1);	0.746850	0.13319	N	0.396837	T	0.30135	0.0755	L	0.29908	0.895	0.26108	N	0.980723	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.08055	0.003;0.002;0.003	T	0.20806	-1.0264	10	0.54805	T	0.06	.	10.3236	0.43780	0.0:0.6914:0.0932:0.2155	.	546;556;592	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	W	592;556;546	ENSP00000261023:R592W;ENSP00000364042:R556W;ENSP00000404291:R546W	ENSP00000261023:R592W	R	+	1	2	ITGAV	187232064	0.993000	0.37304	0.961000	0.40146	0.908000	0.53690	1.303000	0.33470	-0.048000	0.13401	-1.761000	0.00669	CGG	-	pfam_Integrin_alpha-2,prints_Integrin_alpha		0.368	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	protein_coding	OTTHUMT00000255882.2	C	NM_002210	rs200949549		187523819	1	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	SNP	0.535	T	T	187523819	C	T	187523819	3	4	112	1	0	0	0	0	1	0	0	0	7890	875	31	1	1895	1	ITGAV	2	187523819	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	845450	187523819	55675554	211	7706											
MSTN	2660	genome.wustl.edu	37	chr2	190925009	190925009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcataggtttgatgaGtctcaggatttgcacaaaca	9	7	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:190925009G>A	ENST00000260950.4	-	2	658	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	176					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GGTTTGATGAGTCTCAGGATT	0.408																																																	0								ENSG00000138379						174	164	167					2																	190925009		2203	4300	6503	MSTN	SO:0001583	missense	0			-	HGNC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.526C>T	2.37:g.190925009G>A	ENSP00000260950:p.Leu176Phe	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L176F	ENST00000260950.4	37	c.526	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211102	0.79240	.	.	ENSG00000138379	ENST00000260950	T	0.68181	-0.31	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.066080	0.64402	D	0.000008	T	0.82217	0.4989	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.82900	-0.0228	10	0.72032	D	0.01	-9.9605	19.9636	0.97259	0.0:0.0:1.0:0.0	.	176	O14793	GDF8_HUMAN	F	176	ENSP00000260950:L176F	ENSP00000260950:L176F	L	-	1	0	MSTN	190633254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.751000	0.74893	2.718000	0.92993	0.650000	0.86243	CTC	-	pfam_TGF-b_N		0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	protein_coding	OTTHUMT00000255917.2	G	NM_005259	-		190925009	-1	no_errors	ENST00000260950	ensembl	human	known	74_37	missense	SNP	1.000	A	A	190925009	G	A	190925009	3	1	112	1	0	0	0	0	1	0	0	0	9895	1029	36	2	609	2	MSTN	2	190925009	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3401190	190925009	52274364	212	7707											
STAT1	6772	genome.wustl.edu	37	chr2	191845366	191845366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacaaaacctcgtccacgGaatgagaccatcggggctgg	11	12	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:191845366G>A	ENST00000361099.3	-	19	1999	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	STAT1_ENST00000392323.2_Missense_Mutation_p.P540S|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.P538S|STAT1_ENST00000409465.1_Missense_Mutation_p.P538S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	538					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTCGTCCACGGAATGAGACCA	0.438																																																	0								ENSG00000115415						136	124	128					2																	191845366		2203	4300	6503	STAT1	SO:0001583	missense	0			-	HGNC		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1612C>T	2.37:g.191845366G>A	ENSP00000354394:p.Pro538Ser	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	74	17.78	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.P538S	ENST00000361099.3	37	c.1612	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	2.102	-0.405818	0.04832	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.13	5.13	0.70059	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	N	0.10645	0.015	0.80722	D	1	B;B	0.25441	0.126;0.005	B;B	0.23419	0.046;0.015	T	0.64659	-0.6355	10	0.02654	T	1	-22.3279	13.4309	0.61055	0.0751:0.0:0.9249:0.0	.	538;538	P42224-2;P42224	.;STAT1_HUMAN	S	538;538;538;540	ENSP00000354394:P538S;ENSP00000386244:P538S;ENSP00000376136:P538S;ENSP00000376137:P540S	ENSP00000354394:P538S	P	-	1	0	STAT1	191553611	1.000000	0.71417	0.924000	0.36721	0.272000	0.26649	6.383000	0.73172	2.824000	0.97209	0.655000	0.94253	CCG	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.438	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	protein_coding	OTTHUMT00000255997.3	G	NM_007315	-		191845366	-1	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	191845366	G	A	191845366	3	1	112	1	0	0	0	0	1	0	0	0	15271	1174	41	2	672	2	STAT1	2	191845366	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	920357	191845366	51354007	213	7708											
MYO1B	4430	genome.wustl.edu	37	chr2	192279346	192279346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggtggatgtgaccaaggTatcaatgagctcacaaaatg	11	6	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:192279346T>C	ENST00000392318.3	+	29	3357	c.3110T>C	c.(3109-3111)gTa>gCa	p.V1037A	MYO1B_ENST00000304164.4_Missense_Mutation_p.V1037A|MYO1B_ENST00000339514.4_Missense_Mutation_p.V979A|MYO1B_ENST00000439065.2_Missense_Mutation_p.V282A|MYO1B_ENST00000392316.1_Missense_Mutation_p.V1008A	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1037	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTGACCAAGGTATCAATGAGC	0.413																																																	0								ENSG00000128641						80	74	76					2																	192279346		2203	4300	6503	MYO1B	SO:0001583	missense	0			-	HGNC	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3110T>C	2.37:g.192279346T>C	ENSP00000376132:p.Val1037Ala	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	53	18.46	O43794|Q7Z6L5	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1037A	ENST00000392318.3	37	c.3110	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889714	0.72524	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.16	5.16	0.70880	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.45352	1.415	0.58432	D	0.999998	D;D;P	0.76494	0.999;0.998;0.481	D;D;B	0.80764	0.994;0.976;0.287	T	0.58918	-0.7551	10	0.87932	D	0	.	13.9994	0.64424	0.0:0.0:0.0:1.0	.	282;1037;979	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	A	979;1037;1037;1008;282	ENSP00000341903:V979A;ENSP00000376132:V1037A;ENSP00000306382:V1037A;ENSP00000376130:V1008A;ENSP00000391442:V282A	ENSP00000306382:V1037A	V	+	2	0	MYO1B	191987591	1.000000	0.71417	0.926000	0.36857	0.667000	0.39255	7.129000	0.77225	2.296000	0.77279	0.482000	0.46254	GTA	-	pfam_Myosin_tail_2		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	protein_coding	OTTHUMT00000334774.1	T	NM_012223	-		192279346	1	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	SNP	0.997	C	C	192279346	T	C	192279346	3	2	112	1	0	0	0	0	1	0	0	0	10071	1638	57	5	3220	5	MYO1B	2	192279346	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	433980	192279346	50920027	214	7709											
SDPR	8436	genome.wustl.edu	37	chr2	192700931	192700931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaatgaccctctgcaaaGgactcctcttcctggtcatt	8	13	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:192700931G>A	ENST00000304141.4	-	2	1325	c.996C>T	c.(994-996)tcC>tcT	p.S332S		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CCTCTGCAAAGGACTCCTCTT	0.557																																																	0								ENSG00000168497						103	104	104					2																	192700931		2203	4300	6503	SDPR	SO:0001819	synonymous_variant	0			-	HGNC	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.996C>T	2.37:g.192700931G>A		Somatic	0	17	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22		Silent	SNP							NULL	p.S332	ENST00000304141.4	37	c.996	CCDS2313.1	2																																																																																			-	NULL		0.557	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	protein_coding	OTTHUMT00000334791.2	G	NM_004657	-		192700931	-1	no_errors	ENST00000304141	ensembl	human	known	74_37	silent	SNP	0.011	A	A	192700931	G	A	192700931	2	1	112	1	0	0	0	0	0	0	0	1	13978	987	35	2		2	SDPR	2	192700931	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	421585	192700931	50498442	215	7710											
DNAH7	56171	genome.wustl.edu	37	chr2	196740465	196740465	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catggaacaatcttttagatCataccagttccagtggtcta	7	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:196740465C>T	ENST00000312428.6	-	38	6320	c.6220G>A	c.(6220-6222)Gat>Aat	p.D2074N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2074	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTTTAGATCATACCAGTTC	0.413																																																	0								ENSG00000118997						90	85	86					2																	196740465		1882	4109	5991	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6220G>A	2.37:g.196740465C>T	ENSP00000311273:p.Asp2074Asn	Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	58	37.63	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.D2074N	ENST00000312428.6	37	c.6220	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042746	0.93685	.	.	ENSG00000118997	ENST00000312428	T	0.51071	0.72	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70547	-0.4842	10	0.48119	T	0.1	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	2074	Q8WXX0	DYH7_HUMAN	N	2074	ENSP00000311273:D2074N	ENSP00000311273:D2074N	D	-	1	0	DNAH7	196448710	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.361000	0.79497	2.550000	0.86006	0.655000	0.94253	GAT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-		196740465	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196740465	C	T	196740465	3	4	112	1	0	0	0	0	1	0	0	0	4608	826	29	2	5966	2	DNAH7	2	196740465	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4039534	196740465	46458908	216	7711											
DNAH7	56171	genome.wustl.edu	37	chr2	196746610	196746610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccattaatgcagagtatCgaattgtgtccagagttggc	10	7	0	2	rs200790432		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:196746610C>T	ENST00000312428.6	-	36	5970	c.5870G>A	c.(5869-5871)cGa>cAa	p.R1957Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1957	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCAGAGTATCGAATTGTGTC	0.378																																																	0								ENSG00000118997						177	161	166					2																	196746610		1849	4090	5939	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5870G>A	2.37:g.196746610C>T	ENSP00000311273:p.Arg1957Gln	Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	60	22.08	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1957Q	ENST00000312428.6	37	c.5870	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956660	0.73902	.	.	ENSG00000118997	ENST00000312428	T	0.50001	0.76	5.04	4.13	0.48395	.	0.066913	0.64402	N	0.000017	T	0.59878	0.2226	M	0.88450	2.955	0.80722	D	1	P	0.39282	0.666	P	0.44696	0.458	T	0.65429	-0.6170	10	0.54805	T	0.06	.	11.2246	0.48875	0.0:0.9046:0.0:0.0954	.	1957	Q8WXX0	DYH7_HUMAN	Q	1957	ENSP00000311273:R1957Q	ENSP00000311273:R1957Q	R	-	2	0	DNAH7	196454855	1.000000	0.71417	0.828000	0.32881	0.926000	0.56050	4.412000	0.59787	1.262000	0.44165	0.585000	0.79938	CGA	-	superfamily_P-loop_NTPase		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	rs200790432		196746610	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196746610	C	T	196746610	3	4	112	1	0	0	0	0	1	0	0	0	4608	884	31	1	6324	1	DNAH7	2	196746610	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6145	196746610	46452763	217	7712											
DNAH7	56171	genome.wustl.edu	37	chr2	196753051	196753051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataagcccattatgaattcCttttgaataacactgactga	5	8	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:196753051C>T	ENST00000312428.6	-	33	5437	c.5337G>A	c.(5335-5337)aaG>aaA	p.K1779K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1779	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.K1779N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATGAATTCCTTTTGAATAA	0.388																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000118997						69	63	65					2																	196753051		1841	4103	5944	DNAH7	SO:0001819	synonymous_variant	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5337G>A	2.37:g.196753051C>T		Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.K1779	ENST00000312428.6	37	c.5337	CCDS42794.1	2																																																																																			-	NULL		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-		196753051	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	SNP	1.000	T	T	196753051	C	T	196753051	2	4	112	1	0	0	0	0	0	0	0	1	4608	680	24	2		2	DNAH7	2	196753051	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6441	196753051	46446322	218	7713											
CASP8	841	genome.wustl.edu	37	chr2	202149906	202149906	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttatcatcacctcaaacGagatatatcccggatgaggc	8	10	3	2	rs539029508		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:202149906G>A	ENST00000432109.2	+	9	1359	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Silent_p.T407T|CASP8_ENST00000323492.7_Silent_p.T375T|CASP8_ENST00000358485.4_Silent_p.T449T|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Silent_p.T306T	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	390					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CACCTCAAACGAGATATATCC	0.468										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0								ENSG00000064012						70	66	68					2																	202149906		2203	4300	6503	CASP8	SO:0001819	synonymous_variant	0			-	HGNC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1170G>A	2.37:g.202149906G>A		Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP							pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T449	ENST00000432109.2	37	c.1347	CCDS2342.1	2																																																																																			-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10		0.468	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	protein_coding	OTTHUMT00000336853.2	G	NM_001228	-		202149906	1	no_errors	ENST00000358485	ensembl	human	known	74_37	silent	SNP	0.000	A	A	202149906	G	A	202149906	2	1	112	1	0	0	0	0	0	0	0	1	2679	1045	37	1		1	CASP8	2	202149906	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5396855	202149906	41049467	219	7714											
CTLA4	1493	genome.wustl.edu	37	chr2	204735524	204735524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacgggcacctccagtGgaaatcaagtgaacctcact	9	13	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:204735524G>A	ENST00000302823.3	+	2	482	c.325G>A	c.(325-327)Gga>Aga	p.G109R	CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Missense_Mutation_p.G72R|CTLA4_ENST00000295854.6_Missense_Mutation_p.G109R	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	109	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CACCTCCAGTGGAAATCAAGT	0.547																																																	0								ENSG00000163599						144	124	131					2																	204735524		2203	4300	6503	CTLA4	SO:0001583	missense	0			-	HGNC		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	2505	protein-coding gene	gene with protein product		123890	"celiac disease 3", "insulin-dependent diabetes mellitus 12"	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.325G>A	2.37:g.204735524G>A	ENSP00000303939:p.Gly109Arg	Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4	p.G109R	ENST00000302823.3	37	c.325	CCDS2362.1	2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579150	0.46006	.	.	ENSG00000163599	ENST00000302823;ENST00000295854;ENST00000427473	T;T;T	0.51325	0.71;0.71;0.71	5.25	5.25	0.73442	Immunoglobulin V-set (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.484381	0.22034	N	0.065555	T	0.54838	0.1883	L	0.36672	1.1	0.20403	N	0.999909	D;B	0.67145	0.996;0.11	D;B	0.68621	0.959;0.159	T	0.46133	-0.9213	10	0.22706	T	0.39	-14.1618	12.9577	0.58441	0.0:0.2756:0.7244:0.0	.	109;109	Q8TDA6;P16410	.;CTLA4_HUMAN	R	109;109;72	ENSP00000303939:G109R;ENSP00000295854:G109R;ENSP00000409707:G72R	ENSP00000295854:G109R	G	+	1	0	CTLA4	204443769	0.419000	0.25449	0.996000	0.52242	0.970000	0.65996	2.313000	0.43735	2.444000	0.82710	0.591000	0.81541	GGA	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr		0.547	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTLA4	protein_coding	OTTHUMT00000256365.1	G	NM_005214	-		204735524	1	no_errors	ENST00000302823	ensembl	human	known	74_37	missense	SNP	0.431	A	A	204735524	G	A	204735524	3	1	112	1	0	0	0	0	1	0	0	0	4013	1349	47	2	331	2	CTLA4	2	204735524	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2585618	204735524	38463849	220	7715											
INO80D	54891	genome.wustl.edu	37	chr2	206870122	206870122	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccctattcctctatctgacAactcctggactggcacacca	5	17	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:206870122A>T	ENST00000403263.1	-	11	2458	c.2054T>A	c.(2053-2055)tTg>tAg	p.L685*	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	685					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCTATCTGACAACTCCTGGAC	0.532																																																	0								ENSG00000114933						117	108	111					2																	206870122		1967	4155	6122	INO80D	SO:0001587	stop_gained	0			-	HGNC		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2054T>A	2.37:g.206870122A>T	ENSP00000384198:p.Leu685*	Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Nonsense_Mutation	SNP							NULL	p.L685*	ENST00000403263.1	37	c.2054	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	A	39	7.842738	0.98519	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	.	.	.	5.29	5.29	0.74685	.	0.103516	0.39687	N	0.001289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.395	0.74784	1.0:0.0:0.0:0.0	.	.	.	.	X	685	.	ENSP00000233270:L685X	L	-	2	0	INO80D	206578367	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	6.211000	0.72182	2.217000	0.71921	0.482000	0.46254	TTG	-	NULL		0.532	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	protein_coding	OTTHUMT00000336459.1	A	NM_017759	-		206870122	-1	no_errors	ENST00000403263	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	206870122	A	T	206870122	4	4	112	1	0	0	0	0	0	1	0	0	7751	131	5	5	1033	5	INO80D	2	206870122	Nonsense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2134598	206870122	36329251	221	7716											
IDH1	3417	genome.wustl.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	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)			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)						ENSG00000138413						81	74	76					2																	209113113		2203	4300	6503	IDH1	SO:0001583	missense	0			-	HGNC		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	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	24	57.89	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP							pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	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	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G		rs121913499		209113113	-1	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	112	1	0	0	0	0	1	0	0	0	7496	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2242991	209113113	34086260	222	7717											
VWC2L	402117	genome.wustl.edu	37	chr2	215279262	215279262	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcaaagaagtaaaaaacttCtgtgaatatcacgggaaaaa	8	5	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:215279262C>T	ENST00000312504.5	+	2	1147	c.345C>T	c.(343-345)ttC>ttT	p.F115F	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Silent_p.F115F	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	115	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.F115L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TAAAAAACTTCTGTGAATATC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000174453						43	41	42					2																	215279262		1847	4093	5940	VWC2L	SO:0001819	synonymous_variant	0			-	HGNC	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"von Willebrand factor C domain-containing protein 2-like"				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.345C>T	2.37:g.215279262C>T		Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	40	41.18	A6NC69|B2RUW7|B7X8X1	Silent	SNP							smart_VWF_C,pfscan_VWF_C	p.F115	ENST00000312504.5	37	c.345	CCDS46509.1	2																																																																																			-	pfscan_VWF_C		0.378	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2L	protein_coding	OTTHUMT00000337175.1	C	NM_001080500	-		215279262	1	no_errors	ENST00000312504	ensembl	human	known	74_37	silent	SNP	1.000	T	T	215279262	C	T	215279262	2	4	112	1	0	0	0	0	0	0	0	1	17251	912	32	2		2	VWC2L	2	215279262	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6166149	215279262	27920111	223	7718											
COL4A4	1286	genome.wustl.edu	37	chr2	227927264	227927264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggaggtccatcaaaacCtggagggccatgcctcccag	11	14	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:227927264C>T	ENST00000396625.3	-	26	2245	c.2038G>A	c.(2038-2040)Ggt>Agt	p.G680S	COL4A4_ENST00000329662.7_Missense_Mutation_p.G680S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	680	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCATCAAAACCTGGAGGGCCA	0.428																																																	0								ENSG00000081052						60	58	58					2																	227927264		1840	4096	5936	COL4A4	SO:0001583	missense	0			-	HGNC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2038G>A	2.37:g.227927264C>T	ENSP00000379866:p.Gly680Ser	Somatic	0	118	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G680S	ENST00000396625.3	37	c.2038	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307434	0.81247	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99329	-5.75;-5.75	6.16	6.16	0.99307	.	.	.	.	.	D	0.99603	0.9856	H	0.94964	3.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98243	1.0489	9	0.72032	D	0.01	.	17.5791	0.87960	0.0:1.0:0.0:0.0	.	680	P53420	CO4A4_HUMAN	S	680	ENSP00000379866:G680S;ENSP00000328553:G680S	ENSP00000328553:G680S	G	-	1	0	COL4A4	227635508	0.992000	0.36948	0.994000	0.49952	0.699000	0.40488	4.678000	0.61641	2.937000	0.99478	0.650000	0.86243	GGT	-	pfam_Collagen		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	C	NM_000092	-		227927264	-1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	SNP	1.000	T	T	227927264	C	T	227927264	3	4	112	1	0	0	0	0	1	0	0	0	3695	681	24	2	3126	2	COL4A4	2	227927264	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12648002	227927264	15272109	224	7719											
WDR69	164781	genome.wustl.edu	37	chr2	228786181	228786181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaacggctagaatctggGatgctcagactggccagtgc	12	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:228786181G>A	ENST00000309931.2	+	12	1200	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	DAW1_ENST00000545118.1_Missense_Mutation_p.D358N|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	373						cilium (GO:0005929)											TAGAATCTGGGATGCTCAGAC	0.433																																																	0								ENSG00000123977						87	87	87					2																	228786181		2203	4300	6503	DAW1	SO:0001583	missense	0			-	HGNC		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1117G>A	2.37:g.228786181G>A	ENSP00000311899:p.Asp373Asn	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	63	20.25	Q6ZRY1|Q8N776	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D373N	ENST00000309931.2	37	c.1117	CCDS2470.1	2	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805216	0.31961	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.68025	-0.3;-0.3	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.275725	0.40385	N	0.001109	T	0.67287	0.2877	M	0.65498	2.005	0.44976	D	0.997996	B	0.18461	0.028	B	0.33799	0.17	T	0.63537	-0.6615	10	0.33940	T	0.23	.	11.633	0.51187	0.0805:0.0:0.9195:0.0	.	373	Q8N136	WDR69_HUMAN	N	373;358	ENSP00000311899:D373N;ENSP00000437887:D358N	ENSP00000311899:D373N	D	+	1	0	WDR69	228494425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	2.532000	0.85374	0.650000	0.86243	GAT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.433	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAW1	protein_coding	OTTHUMT00000331745.1	G	NM_178821	-		228786181	1	no_errors	ENST00000309931	ensembl	human	known	74_37	missense	SNP	1.000	A	A	228786181	G	A	228786181	3	1	112	1	0	0	0	0	1	0	0	0	17326	1174	41	2	1163	2	WDR69	2	228786181	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	858917	228786181	14413192	225	7720											
CHRND	1144	genome.wustl.edu	37	chr2	233396255	233396255	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtgtttgcccacaggttCctgctcttcggcatggtgct	12	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:233396255C>T	ENST00000258385.3	+	9	968	c.936C>T	c.(934-936)ttC>ttT	p.F312F	CHRND_ENST00000457943.2_Silent_p.F118F|CHRND_ENST00000543200.1_Silent_p.F297F|CHRND_ENST00000536614.1_3'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	312					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCCACAGGTTCCTGCTCTTCG	0.597																																																	0								ENSG00000135902						132	129	130					2																	233396255		2203	4300	6503	CHRND	SO:0001819	synonymous_variant	0			-	HGNC	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.936C>T	2.37:g.233396255C>T		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	A8K661|B4DT92|Q52LH4	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F312	ENST00000258385.3	37	c.936	CCDS2494.1	2																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.597	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	protein_coding	OTTHUMT00000257038.2	C		-		233396255	1	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	SNP	0.997	T	T	233396255	C	T	233396255	2	4	112	1	0	0	0	0	0	0	0	1	3396	854	30	2		2	CHRND	2	233396255	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4610074	233396255	9803118	226	7721											
KIF1A	547	genome.wustl.edu	37	chr2	241728728	241728728	+	Splice_Site	SNP	G	G	T													ggctgtttggggttaacaatGgctgtgggagggaacacagg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241728728G>T	ENST00000320389.7	-	3	266	c.108C>A	c.(106-108)acC>acA	p.T36T	KIF1A_ENST00000498729.2_Splice_Site_p.T36T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTTAACAATGGCTGTGGGAG	0.597																																																	0								ENSG00000130294						71	84	80					2																	241728728		2180	4291	6471	KIF1A	SO:0001630	splice_region_variant	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.107-1C>A	2.37:g.241728728G>T		Somatic	0	127	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	57	33.72	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T36	ENST00000320389.7	37	c.108	CCDS46561.1	2																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-	Silent	241728728	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	silent	SNP	0.960	T	T	241728728	G	T	241728728	5	4	112	1	0	0	0	0	0	0	1	0	8285	1362	47	3	5144	3	KIF1A	2	241728728	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8332473	241728728	1470645	227	7722	112	3									
KIF1A	547	genome.wustl.edu	37	chr2	241728729	241728729	+	Splice_Site	SNP	G	G	T													gctgtttggggttaacaatgGctgtgggagggaacacaggt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241728729G>T	ENST00000320389.7	-	3	265	c.107C>A	c.(106-108)aCc>aAc	p.T36N	KIF1A_ENST00000498729.2_Splice_Site_p.T36N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTAACAATGGCTGTGGGAGG	0.597																																																	0								ENSG00000130294						70	83	79					2																	241728729		2180	4291	6471	KIF1A	SO:0001630	splice_region_variant	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.107-1C>A	2.37:g.241728729G>T		Somatic	0	124	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	59	32.18	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T36N	ENST00000320389.7	37	c.107	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882965	0.51908	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.41	3.53	0.40419	Kinesin, motor domain (4);	0.132610	0.49305	U	0.000142	D	0.90463	0.7013	L	0.60067	1.865	0.80722	D	1	P;D;B	0.60575	0.864;0.988;0.217	P;P;B	0.56700	0.691;0.804;0.179	D	0.89917	0.4056	10	0.66056	D	0.02	.	10.873	0.46894	0.0952:0.0:0.9048:0.0	.	36;36;36	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	N	36	ENSP00000322791:T36N;ENSP00000438388:T36N;ENSP00000384231:T36N;ENSP00000398686:T36N	ENSP00000322791:T36N	T	-	2	0	KIF1A	241377402	1.000000	0.71417	0.996000	0.52242	0.082000	0.17680	4.608000	0.61141	0.839000	0.34971	0.462000	0.41574	ACC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-	Missense_Mutation	241728729	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	1.000	T	T	241728729	G	T	241728729	5	4	112	1	0	0	0	0	0	0	1	0	8285	1217	42	3	5145	3	KIF1A	2	241728729	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	241728729	1470644	228	7723	112	3									
KIF1A	547	genome.wustl.edu	37	chr2	241728730	241728730	+	Splice_Site	SNP	C	C	G													ctgtttggggttaacaatggCtgtgggagggaacacaggtg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241728730C>G	ENST00000320389.7	-	3	265		c.e3-1		KIF1A_ENST00000498729.2_Splice_Site	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTAACAATGGCTGTGGGAGGG	0.597																																																	0								ENSG00000130294						70	82	78					2																	241728730		2179	4290	6469	KIF1A	SO:0001630	splice_region_variant	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.107-1G>C	2.37:g.241728730C>G		Somatic	0	124	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	57	32.56	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Splice_Site	SNP							-	e2-1	ENST00000320389.7	37	c.107-1	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630294	0.28978	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7642	0.78114	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF1A	241377403	1.000000	0.71417	0.992000	0.48379	0.078000	0.17371	7.623000	0.83113	1.996000	0.58369	0.462000	0.41574	.	-	-		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	C	NM_138483	-	Intron	241728730	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	241728730	C	G	241728730	5	3	112	1	0	0	0	0	0	0	1	0	8285	811	28	4	5146	4	KIF1A	2	241728730	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	241728730	1470643	229	7724	112	3									
C2orf54	79919	genome.wustl.edu	37	chr2	241835320	241835320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctggaagtcctgggcaCgcggcgcctcccgggaccgg	17	16	0	0	rs202161469		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241835320C>A	ENST00000388934.4	-	1	253	c.95G>T	c.(94-96)cGt>cTt	p.R32L		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	32										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GTCCTGGGCACGCGGCGCCTC	0.697																																																	0								ENSG00000172478						12	14	14					2																	241835320		2094	4218	6312	C2orf54	SO:0001583	missense	0			-	HGNC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.95G>T	2.37:g.241835320C>A	ENSP00000373586:p.Arg32Leu	Somatic	0	71	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP							NULL	p.R32L	ENST00000388934.4	37	c.95	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	C	9.035	0.988274	0.18966	.	.	ENSG00000172478	ENST00000388934;ENST00000414499;ENST00000454476	T	0.39056	1.1	5.26	3.18	0.36537	.	0.285035	0.23007	N	0.053003	T	0.30792	0.0776	L	0.32530	0.975	0.09310	N	1	P	0.43024	0.798	B	0.42087	0.375	T	0.07908	-1.0748	10	0.25751	T	0.34	.	9.0042	0.36102	0.0:0.7712:0.0:0.2288	.	32	Q08AI8	CB054_HUMAN	L	32;32;22	ENSP00000373586:R32L	ENSP00000373586:R32L	R	-	2	0	C2orf54	241483993	0.135000	0.22499	0.025000	0.17156	0.042000	0.13812	1.467000	0.35321	1.225000	0.43566	0.561000	0.74099	CGT	-	NULL		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	protein_coding	OTTHUMT00000324353.1	C	NM_024861, NM_001085437	-		241835320	-1	no_errors	ENST00000388934	ensembl	human	known	74_37	missense	SNP	0.003	A	A	241835320	C	A	241835320	3	1	112	1	0	0	0	0	1	0	0	0	2177	536	19	3	1282	3	C2orf54	2	241835320	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	106590	241835320	1364053	230	7725											
MTERFD2	130916	genome.wustl.edu	37	chr2	242039046	242039046	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtccaggagggaactcatGaccctctctagctccaagga	10	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:242039046G>A	ENST00000391980.2	-	2	343	c.285C>T	c.(283-285)gtC>gtT	p.V95V	MTERFD2_ENST00000407095.3_Silent_p.V95V|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Silent_p.V95V|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		95					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|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;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGGAACTCATGACCCTCTCTA	0.507																																																	0								ENSG00000122085						118	117	117					2																	242039046		2203	4300	6503	MTERFD2	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000391980.2:c.285C>T	2.37:g.242039046G>A		Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	A8K6K0|Q9P0E0	Silent	SNP							pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.V95	ENST00000391980.2	37	c.285	CCDS2544.1	2																																																																																			-	pfam_Mit_transcrip_term-rel		0.507	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD2	protein_coding	OTTHUMT00000323798.4	G		-		242039046	-1	no_errors	ENST00000241527	ensembl	human	known	74_37	silent	SNP	0.000	A	A	242039046	G	A	242039046	2	1	112	1	0	0	0	0	0	0	0	1	9922	1277	45	2		2	MTERFD2	2	242039046	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	203726	242039046	1160327	231	7726											
IL5RA	3568	genome.wustl.edu	37	chr3	3146626	3146626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcttgcagtatctcagTggcccccaaaaggatgagta	11	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:3146626T>C	ENST00000446632.2	-	3	617	c.43A>G	c.(43-45)Act>Gct	p.T15A	IL5RA_ENST00000456302.1_Missense_Mutation_p.T15A|IL5RA_ENST00000383846.1_Missense_Mutation_p.T15A|IL5RA_ENST00000418488.2_Missense_Mutation_p.T15A|IL5RA_ENST00000445864.2_Missense_Mutation_p.T15A|IL5RA_ENST00000438560.1_Missense_Mutation_p.T15A|IL5RA_ENST00000311981.8_Missense_Mutation_p.T15A|IL5RA_ENST00000430514.2_Missense_Mutation_p.T15A|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000256452.3_Missense_Mutation_p.T15A	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	15					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGTATCTCAGTGGCCCCCAAA	0.338																																					GBM(169;430 2801 24955 28528)												0								ENSG00000091181						97	96	96					3																	3146626		2203	4300	6503	IL5RA	SO:0001583	missense	0			-	HGNC	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.43A>G	3.37:g.3146626T>C	ENSP00000412209:p.Thr15Ala	Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	82	28.07	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.T15A	ENST00000446632.2	37	c.43	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	T	2.420	-0.333254	0.05278	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.86694	-2.16;-2.07;-2.16;1.33;1.57;1.36;1.36;1.36;1.36;1.58	5.6	-10.5	0.00291	.	1.987940	0.02105	N	0.054303	T	0.77082	0.4078	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B;B	0.18166	0.0;0.001;0.001;0.0;0.026;0.004	B;B;B;B;B;B	0.15052	0.0;0.001;0.001;0.0;0.012;0.001	T	0.60172	-0.7315	10	0.26408	T	0.33	0.1039	8.4101	0.32638	0.2919:0.4938:0.0:0.2143	.	15;15;15;15;15;15	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	A	15	ENSP00000412209:T15A;ENSP00000390753:T15A;ENSP00000256452:T15A;ENSP00000388858:T15A;ENSP00000402598:T15A;ENSP00000373358:T15A;ENSP00000309196:T15A;ENSP00000400400:T15A;ENSP00000392059:T15A;ENSP00000398117:T15A	ENSP00000256452:T15A	T	-	1	0	IL5RA	3121626	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.380000	0.02551	-2.043000	0.00913	-1.862000	0.00560	ACT	-	NULL		0.338	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	protein_coding	OTTHUMT00000337537.2	T		-		3146626	-1	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	SNP	0.000	C	C	3146626	T	C	3146626	3	2	112	1	0	0	0	0	1	0	0	0	7702	1696	59	5	1285	5	IL5RA	3	3146626	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09		3146626	194875804	232	7727											
ITPR1	3708	genome.wustl.edu	37	chr3	4714890	4714890	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaacgaaatctcaggcCagctggatgtcgatctcatt	8	12	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:4714890C>T	ENST00000443694.2	+	18	2230	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	ITPR1_ENST00000456211.2_Nonsense_Mutation_p.Q744*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.Q744*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.Q759*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.Q759*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.Q759*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	759					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)	AATCTCAGGCCAGCTGGATGT	0.542																																																	0								ENSG00000150995						56	59	58					3																	4714890		2079	4221	6300	ITPR1	SO:0001587	stop_gained	0			-	HGNC	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.2230C>T	3.37:g.4714890C>T	ENSP00000401671:p.Gln744*	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	27	49.06	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q744*	ENST00000443694.2	37	c.2230	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.258513	0.98729	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.74	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.2731	0.66164	0.1504:0.8496:0.0:0.0	.	.	.	.	X	759;744;759;759;759;744;744	.	ENSP00000306253:Q744X	Q	+	1	0	ITPR1	4689890	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	7.540000	0.82074	1.327000	0.45338	-0.282000	0.10007	CAG	-	NULL		0.542	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	C	NM_002222	-		4714890	1	no_errors	ENST00000302640	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	4714890	C	T	4714890	4	4	112	1	0	0	0	0	0	1	0	0	7922	595	21	2	2349	2	ITPR1	3	4714890	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1568264	4714890	193307540	233	7728											
GRM7	2917	genome.wustl.edu	37	chr3	7728066	7728066	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtataccaccagtaagaaaGagtgtacaaaagtctgttac	8	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:7728066G>A	ENST00000357716.4	+	9	2972				GRM7_ENST00000486284.1_Silent_p.K907K|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Silent_p.K907K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						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)	p.K907N(1)		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						CAGTAAGAAAGAGTGTACAAA	0.289																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000196277						67	67	67					3																	7728066		2203	4299	6502	GRM7	SO:0001627	intron_variant	0			-	HGNC	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.2698+6084G>A	3.37:g.7728066G>A		Somatic	0	197	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	206	18.58	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.K907	ENST00000357716.4	37	c.2721	CCDS43042.1	3																																																																																			-	NULL		0.289	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	protein_coding	OTTHUMT00000246895.3	G	NM_000844	-		7728066	1	no_errors	ENST00000402647	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7728066	G	A	7728066	1	1	112	0	1	0	0	0	0	0	0	0	6804	933	33	2		2	GRM7	3	7728066	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3013176	7728066	190294364	234	7729											
RAD18	56852	genome.wustl.edu	37	chr3	8983159	8983159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacttcctacctttagtaActtgtttcaaagtggatgtc	6	8	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:8983159A>G	ENST00000264926.2	-	5	712	c.596T>C	c.(595-597)gTt>gCt	p.V199A	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	199					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ACCTTTAGTAACTTGTTTCAA	0.433								Rad6 pathway																																									0								ENSG00000070950						35	33	34					3																	8983159		2203	4300	6503	RAD18	SO:0001583	missense	0			-	HGNC		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.596T>C	3.37:g.8983159A>G	ENSP00000264926:p.Val199Ala	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	57	22.97	Q58F55|Q9NRT6	Missense_Mutation	SNP							pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom	p.V199A	ENST00000264926.2	37	c.596	CCDS2571.1	3	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.492459	0.01009	.	.	ENSG00000070950	ENST00000264926	T	0.22539	1.95	5.12	1.02	0.19986	.	0.951981	0.08805	N	0.891116	T	0.15522	0.0374	L	0.55834	1.745	0.09310	N	1	B	0.20780	0.048	B	0.17433	0.018	T	0.41270	-0.9518	10	0.08837	T	0.75	-1.0047	2.9473	0.05850	0.5645:0.0:0.1925:0.2429	.	199	Q9NS91	RAD18_HUMAN	A	199	ENSP00000264926:V199A	ENSP00000264926:V199A	V	-	2	0	RAD18	8958159	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.158000	0.16422	0.004000	0.14682	0.533000	0.62120	GTT	-	NULL		0.433	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	protein_coding	OTTHUMT00000207071.2	A	NM_020165	-		8983159	-1	no_errors	ENST00000264926	ensembl	human	known	74_37	missense	SNP	0.001	G	G	8983159	A	G	8983159	3	3	112	1	0	0	0	0	1	0	0	0	12988	43	2	5	927	5	RAD18	3	8983159	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1255093	8983159	189039271	235	7730											
FGD5	152273	genome.wustl.edu	37	chr3	14964629	14964629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccaaggtctgcgacgGctgcttcggggagctgaaga	17	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:14964629G>A	ENST00000285046.5	+	16	3994	c.3884G>A	c.(3883-3885)gGc>gAc	p.G1295D	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.G1054D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1295					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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTCTGCGACGGCTGCTTCGGG	0.612																																																	0								ENSG00000154783						47	50	49					3																	14964629		1980	4157	6137	FGD5	SO:0001583	missense	0			-	HGNC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3884G>A	3.37:g.14964629G>A	ENSP00000285046:p.Gly1295Asp	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	29	39.58	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.G1295D	ENST00000285046.5	37	c.3884	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419657	0.62622	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.70749	-0.51;-0.51	4.79	4.79	0.61399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.110120	0.40554	N	0.001071	T	0.67869	0.2939	N	0.05441	-0.05	0.48040	D	0.999572	P;D	0.71674	0.947;0.998	P;D	0.68765	0.849;0.96	T	0.66081	-0.6012	10	0.14252	T	0.57	-36.926	17.8447	0.88727	0.0:0.0:1.0:0.0	.	1054;1295	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	1295;1054	ENSP00000285046:G1295D;ENSP00000445949:G1054D	ENSP00000285046:G1295D	G	+	2	0	FGD5	14939633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.857000	0.62939	2.200000	0.70718	0.484000	0.47621	GGC	-	pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	protein_coding	OTTHUMT00000340628.1	G	NM_152536	-		14964629	1	no_errors	ENST00000285046	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14964629	G	A	14964629	3	1	112	1	0	0	0	0	1	0	0	0	5838	1203	42	2	3946	2	FGD5	3	14964629	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5981470	14964629	183057801	236	7731											
TOP2B	7155	genome.wustl.edu	37	chr3	25668163	25668163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagtaccatataaaaaTtgctaagagaaaagttatat	7	4	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:25668163T>C	ENST00000264331.4	-	18	2111	c.2112A>G	c.(2110-2112)caA>caG	p.Q704Q	TOP2B_ENST00000435706.2_Silent_p.Q699Q	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	704					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATATAAAAATTGCTAAGAGA	0.328																																																	0								ENSG00000077097						39	41	40					3																	25668163		2123	4271	6394	TOP2B	SO:0001819	synonymous_variant	0			-	HGNC	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2112A>G	3.37:g.25668163T>C		Somatic	0	115	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	84	31.15	Q13600|Q9UMG8|Q9UQP8	Silent	SNP							pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.Q704	ENST00000264331.4	37	c.2112		3																																																																																			-	superfamily_Topo_IIA_like_dom		0.328	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	protein_coding		T		-		25668163	-1	no_errors	ENST00000264331	ensembl	human	known	74_37	silent	SNP	1.000	C	C	25668163	T	C	25668163	2	2	112	1	0	0	0	0	0	0	0	1	16373	1490	52	5		5	TOP2B	3	25668163	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	10703534	25668163	172354267	237	7732											
TRIM71	131405	genome.wustl.edu	37	chr3	32932838	32932838	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaattctgagggcaagatCctggtctcagacacgaggaa	13	8	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:32932838C>T	ENST00000383763.5	+	4	2205	c.2142C>T	c.(2140-2142)atC>atT	p.I714I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	714					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCAAGATCCTGGTCTCAG	0.537																																																	0								ENSG00000206557						44	51	49					3																	32932838		2051	4191	6242	TRIM71	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2142C>T	3.37:g.32932838C>T		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13		Silent	SNP							pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.I714	ENST00000383763.5	37	c.2142	CCDS43060.1	3																																																																																			-	pfam_NHL_repeat,pfscan_NHL_repeat_subgr		0.537	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	protein_coding	OTTHUMT00000341565.3	C	NM_001039111	-		32932838	1	no_errors	ENST00000383763	ensembl	human	known	74_37	silent	SNP	1.000	T	T	32932838	C	T	32932838	2	4	112	1	0	0	0	0	0	0	0	1	16551	845	30	2		2	TRIM71	3	32932838	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7264675	32932838	165089592	238	7733											
CCR4	1233	genome.wustl.edu	37	chr3	32995835	32995835	+	Silent	SNP	G	G	A													cccatcatctacttttttctGggggagaaatttcgcaagta							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:32995835G>A	ENST00000330953.5	+	2	1089	c.921G>A	c.(919-921)ctG>ctA	p.L307L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	307					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ACTTTTTTCTGGGGGAGAAAT	0.468																																																	0								ENSG00000183813						64	68	67					3																	32995835		2203	4300	6503	CCR4	SO:0001819	synonymous_variant	0			-	HGNC	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.921G>A	3.37:g.32995835G>A		Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q9ULY6|Q9ULY7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.L307	ENST00000330953.5	37	c.921	CCDS2656.1	3																																																																																			-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	protein_coding	OTTHUMT00000253252.2	G		-		32995835	1	no_errors	ENST00000330953	ensembl	human	known	74_37	silent	SNP	0.989	A	A	32995835	G	A	32995835	2	1	112	1	0	0	0	0	0	0	0	1	2945	1335	47	2		2	CCR4	3	32995835	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	62997	32995835	165026595	239	7734	113	2									
CCR4	1233	genome.wustl.edu	37	chr3	32995836	32995836	+	Missense_Mutation	SNP	G	G	A													ccatcatctacttttttctgGgggagaaatttcgcaagtac							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:32995836G>A	ENST00000330953.5	+	2	1090	c.922G>A	c.(922-924)Ggg>Agg	p.G308R		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	308					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTTTTTTCTGGGGGAGAAATT	0.468																																																	0								ENSG00000183813						64	69	67					3																	32995836		2203	4300	6503	CCR4	SO:0001583	missense	0			-	HGNC	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.922G>A	3.37:g.32995836G>A	ENSP00000332659:p.Gly308Arg	Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q9ULY6|Q9ULY7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.G308R	ENST00000330953.5	37	c.922	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778131	0.90195	.	.	ENSG00000183813	ENST00000330953	T	0.28255	1.62	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000015	T	0.63034	0.2477	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67150	-0.5743	10	0.72032	D	0.01	.	19.497	0.95077	0.0:0.0:1.0:0.0	.	308	P51679	CCR4_HUMAN	R	308	ENSP00000332659:G308R	ENSP00000332659:G308R	G	+	1	0	CCR4	32970840	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.706000	0.92434	0.563000	0.77884	GGG	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	protein_coding	OTTHUMT00000253252.2	G		-		32995836	1	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32995836	G	A	32995836	3	1	112	1	0	0	0	0	1	0	0	0	2945	1232	43	2	924	2	CCR4	3	32995836	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	32995836	165026594	240	7735	113	2									
ARPP21	10777	genome.wustl.edu	37	chr3	35732379	35732379	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattataaaaagttccctCagatgtcatcgtatcagagg	7	8	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:35732379C>T	ENST00000187397.4	+	9	1024	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q190*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	190	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAGTTCCCTCAGATGTCATC	0.343																																																	0								ENSG00000172995						89	84	86					3																	35732379		2202	4300	6502	ARPP21	SO:0001587	stop_gained	0			-	HGNC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.568C>T	3.37:g.35732379C>T	ENSP00000187397:p.Gln190*	Somatic	0	128	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	79	41.48	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q190*	ENST00000187397.4	37	c.568	CCDS2661.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.171613|5.171613	0.94807|0.94807	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.129444|.	0.56097|.	D|.	0.000035|.	.|T	.|0.79975	.|0.4539	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77464	.|-0.2578	.|3	0.41790|.	T|.	0.15|.	-11.9448|-11.9448	20.1421|20.1421	0.98061|0.98061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	190|31	.|.	ENSP00000187397:Q190X|.	Q|S	+|+	1|2	0|0	ARPP21|ARPP21	35707383|35707383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.286000|0.286000	0.27126|0.27126	7.701000|7.701000	0.84566|0.84566	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CAG|TCA	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.343	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	protein_coding	OTTHUMT00000253334.2	C	NM_198399	-		35732379	1	no_errors	ENST00000417925	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	35732379	C	T	35732379	4	4	112	1	0	0	0	0	0	1	0	0	978	827	29	2	607	2	ARPP21	3	35732379	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2736543	35732379	162290051	241	7736											
ARPP21	10777	genome.wustl.edu	37	chr3	35835271	35835271	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctacctaaccaggcaggtCaagggtcactcccagccact	9	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:35835271C>T	ENST00000187397.4	+	20	2716	c.2260C>T	c.(2260-2262)Caa>Taa	p.Q754*	ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q755*|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q755*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q735*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q735*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	754	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGGCAGGTCAAGGGTCACT	0.542																																																	0								ENSG00000172995						121	112	115					3																	35835271		2203	4300	6503	ARPP21	SO:0001587	stop_gained	0			-	HGNC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2260C>T	3.37:g.35835271C>T	ENSP00000187397:p.Gln754*	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q755*	ENST00000187397.4	37	c.2263	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.913615	0.98557	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	6.03	6.03	0.97812	.	0.088294	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.7021	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	755;735;735;754;755	.	ENSP00000187397:Q754X	Q	+	1	0	ARPP21	35810275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.252000	0.72447	2.854000	0.98071	0.655000	0.94253	CAA	-	NULL		0.542	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	protein_coding	OTTHUMT00000253334.2	C	NM_198399	-		35835271	1	no_errors	ENST00000417925	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	35835271	C	T	35835271	4	4	112	1	0	0	0	0	0	1	0	0	978	827	29	2	2343	2	ARPP21	3	35835271	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	102892	35835271	162187159	242	7737											
STAC	6769	genome.wustl.edu	37	chr3	36570342	36570342	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcctttttcctttcagggGaaaattcaagacagaattgg	8	9	2	2	rs144959929	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36570342G>A	ENST00000273183.3	+	10	1275	c.975G>A	c.(973-975)ggG>ggA	p.G325G	STAC_ENST00000457375.2_Silent_p.G264G	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	325	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCTTTCAGGGGAAAATTCAAG	0.338																																																	0								ENSG00000144681						66	65	65					3																	36570342		2203	4300	6503	STAC	SO:0001819	synonymous_variant	0			-	HGNC	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.975G>A	3.37:g.36570342G>A		Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	56	37.08	B2R8S8	Silent	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.G325	ENST00000273183.3	37	c.975	CCDS2662.1	3																																																																																			-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain		0.338	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	protein_coding	OTTHUMT00000253338.2	G	NM_003149	-		36570342	1	no_errors	ENST00000273183	ensembl	human	known	74_37	silent	SNP	0.990	A	A	36570342	G	A	36570342	2	1	112	1	0	0	0	0	0	0	0	1	15246	1161	41	2		2	STAC	3	36570342	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	735071	36570342	161452088	243	7738											
TRANK1	9881	genome.wustl.edu	37	chr3	36873197	36873197	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgcagtgcctcagccacaGacttcacattgactgccacc	7	17	2	2	rs368052299		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36873197G>A	ENST00000429976.2	-	21	7992	c.7745C>T	c.(7744-7746)tCt>tTt	p.S2582F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S2032F|TRANK1_ENST00000301807.6_Missense_Mutation_p.S2032F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2582							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAGCCACAGACTTCACATT	0.582																																																	0								ENSG00000168016						58	60	59					3																	36873197		2105	4230	6335	TRANK1	SO:0001583	missense	0			-	HGNC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7745C>T	3.37:g.36873197G>A	ENSP00000416168:p.Ser2582Phe	Somatic	0	22	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	Q8N8K0	Missense_Mutation	SNP							pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.S2582F	ENST00000429976.2	37	c.7745	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678071	0.29783	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32272	1.46;1.87;1.46	5.41	3.6	0.41247	.	0.538297	0.16743	N	0.201372	T	0.27967	0.0689	M	0.63428	1.95	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32824	-0.9892	10	0.72032	D	0.01	.	4.4317	0.11531	0.0792:0.1142:0.5407:0.2659	.	2582	O15050	TRNK1_HUMAN	F	2032;2582;2032	ENSP00000416826:S2032F;ENSP00000416168:S2582F;ENSP00000301807:S2032F	ENSP00000301807:S2032F	S	-	2	0	TRANK1	36848201	0.996000	0.38824	0.387000	0.26183	0.996000	0.88848	3.810000	0.55613	0.767000	0.33267	0.561000	0.74099	TCT	-	NULL		0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	protein_coding		G	NM_014831	-		36873197	-1	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	SNP	0.155	A	A	36873197	G	A	36873197	3	1	112	1	0	0	0	0	1	0	0	0	16461	942	33	2	1044	2	TRANK1	3	36873197	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	302855	36873197	161149233	244	7739											
TRANK1	9881	genome.wustl.edu	37	chr3	36875281	36875281	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttctatgtctagctttgaGaggacagccatcatttcctt	7	10	4	1	rs374776278		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36875281G>A	ENST00000429976.2	-	21	5908	c.5661C>T	c.(5659-5661)ctC>ctT	p.L1887L	TRANK1_ENST00000428977.2_Silent_p.L1337L|TRANK1_ENST00000301807.6_Silent_p.L1337L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1887							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAGCTTTGAGAGGACAGCCA	0.468																																																	0								ENSG00000168016						146	141	142					3																	36875281		1932	4139	6071	TRANK1	SO:0001819	synonymous_variant	0			-	HGNC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5661C>T	3.37:g.36875281G>A		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	Q8N8K0	Silent	SNP							pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L1887	ENST00000429976.2	37	c.5661	CCDS46789.2	3																																																																																			-	NULL		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	protein_coding		G	NM_014831	-		36875281	-1	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	SNP	0.995	A	A	36875281	G	A	36875281	2	1	112	1	0	0	0	0	0	0	0	1	16461	929	33	2		2	TRANK1	3	36875281	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2084	36875281	161147149	245	7740											
TRANK1	9881	genome.wustl.edu	37	chr3	36893680	36893680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagttttccttttattcCctcgtagcaaaattgccaag	7	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36893680C>T	ENST00000429976.2	-	13	4821	c.4574G>A	c.(4573-4575)gGg>gAg	p.G1525E	TRANK1_ENST00000463984.1_5'Flank|TRANK1_ENST00000428977.2_Missense_Mutation_p.G975E|TRANK1_ENST00000301807.6_Missense_Mutation_p.G975E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1525							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTTTTATTCCCTCGTAGCAA	0.423																																																	0								ENSG00000168016						73	67	69					3																	36893680		1860	4104	5964	TRANK1	SO:0001583	missense	0			-	HGNC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4574G>A	3.37:g.36893680C>T	ENSP00000416168:p.Gly1525Glu	Somatic	0	127	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	66	40.54	Q8N8K0	Missense_Mutation	SNP							pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.G1525E	ENST00000429976.2	37	c.4574	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318990	0.81469	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81908	-1.55;-1.55;-1.55	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000012	D	0.89508	0.6735	L	0.52126	1.63	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.89711	0.3912	10	0.72032	D	0.01	.	19.7666	0.96346	0.0:1.0:0.0:0.0	.	1525	O15050	TRNK1_HUMAN	E	975;1525;975	ENSP00000416826:G975E;ENSP00000416168:G1525E;ENSP00000301807:G975E	ENSP00000301807:G975E	G	-	2	0	TRANK1	36868684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.568000	0.67385	2.764000	0.94973	0.650000	0.86243	GGG	-	superfamily_P-loop_NTPase		0.423	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	protein_coding		C	NM_014831	-		36893680	-1	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36893680	C	T	36893680	3	4	112	1	0	0	0	0	1	0	0	0	16461	623	22	2	4247	2	TRANK1	3	36893680	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	18399	36893680	161128750	246	7741											
SCN10A	6336	genome.wustl.edu	37	chr3	38835493	38835493	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcgagggatccaatgggGaattccatcttctcattctt	9	9	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38835493G>A	ENST00000449082.2	-	1	8	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	3					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATCCAATGGGGAATTCCATCT	0.468																																																	0								ENSG00000185313						141	144	143					3																	38835493		2203	4300	6503	SCN10A	SO:0001819	synonymous_variant	0			-	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.9C>T	3.37:g.38835493G>A		Somatic	0	20	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	A6NDQ1	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.F3	ENST00000449082.2	37	c.9	CCDS33736.1	3																																																																																			-	NULL		0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	G	NM_006514	-		38835493	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	SNP	0.673	A	A	38835493	G	A	38835493	2	1	112	1	0	0	0	0	0	0	0	1	13920	1165	41	2		2	SCN10A	3	38835493	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1941813	38835493	159186937	247	7742											
SCN11A	11280	genome.wustl.edu	37	chr3	38888901	38888901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggggctgagcagggaatCccaacctgctgatgtgctta	13	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38888901C>T	ENST00000302328.3	-	26	4858	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N	SCN11A_ENST00000450244.1_Missense_Mutation_p.D1554N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D1516N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1554					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGGGAATCCCAACCTGCT	0.468																																																	0								ENSG00000168356						91	89	90					3																	38888901		2203	4300	6503	SCN11A	SO:0001583	missense	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4660G>A	3.37:g.38888901C>T	ENSP00000307599:p.Asp1554Asn	Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	50	26.47	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D1554N	ENST00000302328.3	37	c.4660	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453783	0.84209	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97352	-4.35;-4.35;-4.35	5.49	5.49	0.81192	Ion transport (1);	0.050021	0.85682	D	0.000000	D	0.96667	0.8912	N	0.20304	0.555	0.58432	D	0.999992	D	0.89917	1.0	D	0.78314	0.991	D	0.97385	0.9985	10	0.59425	D	0.04	.	15.7138	0.77652	0.0:0.8632:0.1368:0.0	.	1554	Q9UI33	SCNBA_HUMAN	N	1554;1554;1516	ENSP00000307599:D1554N;ENSP00000400945:D1554N;ENSP00000416757:D1516N	ENSP00000307599:D1554N	D	-	1	0	SCN11A	38863905	1.000000	0.71417	0.996000	0.52242	0.751000	0.42716	4.926000	0.63433	2.568000	0.86640	0.573000	0.79308	GAT	-	pfam_Ion_trans_dom		0.468	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	C	NM_014139	-		38888901	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38888901	C	T	38888901	3	4	112	1	0	0	0	0	1	0	0	0	13921	855	30	2	719	2	SCN11A	3	38888901	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	53408	38888901	159133529	248	7743											
SCN11A	11280	genome.wustl.edu	37	chr3	38889137	38889137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgcagcccggacaagcCtcaggattcggccaatccga	11	15	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38889137C>T	ENST00000302328.3	-	26	4622	c.4424G>A	c.(4423-4425)aGg>aAg	p.R1475K	SCN11A_ENST00000450244.1_Missense_Mutation_p.R1475K|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1437K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1475					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGGACAAGCCTCAGGATTCG	0.488																																																	0								ENSG00000168356						49	53	52					3																	38889137		2203	4300	6503	SCN11A	SO:0001583	missense	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4424G>A	3.37:g.38889137C>T	ENSP00000307599:p.Arg1475Lys	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R1475K	ENST00000302328.3	37	c.4424	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.779948	0.96929	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97941	-4.62;-4.62;-4.62	5.81	5.81	0.92471	Ion transport (1);	0.111023	0.64402	D	0.000007	D	0.98560	0.9519	M	0.65975	2.015	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.99667	1.0995	10	0.87932	D	0	.	20.0787	0.97763	0.0:1.0:0.0:0.0	.	1475	Q9UI33	SCNBA_HUMAN	K	1475;1475;1437	ENSP00000307599:R1475K;ENSP00000400945:R1475K;ENSP00000416757:R1437K	ENSP00000307599:R1475K	R	-	2	0	SCN11A	38864141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.789000	0.85783	2.750000	0.94351	0.637000	0.83480	AGG	-	pfam_Ion_trans_dom		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	C	NM_014139	-		38889137	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38889137	C	T	38889137	3	4	112	1	0	0	0	0	1	0	0	0	13921	681	24	2	955	2	SCN11A	3	38889137	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	236	38889137	159133293	249	7744											
SCN11A	11280	genome.wustl.edu	37	chr3	38924861	38924861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtccacgctacagcatgGaaagcagcaaccaaagcctg	9	13	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38924861G>A	ENST00000302328.3	-	18	3280	c.3082C>T	c.(3082-3084)Cca>Tca	p.P1028S	SCN11A_ENST00000444237.2_Missense_Mutation_p.P1028S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1028S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P990S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1028					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTACAGCATGGAAAGCAGCAA	0.443																																																	0								ENSG00000168356						86	81	82					3																	38924861		2203	4300	6503	SCN11A	SO:0001583	missense	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3082C>T	3.37:g.38924861G>A	ENSP00000307599:p.Pro1028Ser	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	32	40.74	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.P1028S	ENST00000302328.3	37	c.3082	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813306	0.32053	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.57	3.77	0.43336	Sodium ion transport-associated (1);	0.401280	0.28198	N	0.016233	T	0.79673	0.4486	L	0.52573	1.65	0.09310	N	0.999995	B	0.30068	0.267	B	0.30495	0.116	T	0.66905	-0.5805	10	0.32370	T	0.25	.	9.7709	0.40589	0.0747:0.1399:0.7853:0.0	.	1028	Q9UI33	SCNBA_HUMAN	S	1028;1028;990;1028	ENSP00000307599:P1028S;ENSP00000400945:P1028S;ENSP00000416757:P990S;ENSP00000408028:P1028S	ENSP00000307599:P1028S	P	-	1	0	SCN11A	38899865	1.000000	0.71417	0.002000	0.10522	0.392000	0.30506	2.974000	0.49272	0.811000	0.34303	0.655000	0.94253	CCA	-	pfam_Na_trans_assoc		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	G	NM_014139	-		38924861	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	SNP	0.248	A	A	38924861	G	A	38924861	3	1	112	1	0	0	0	0	1	0	0	0	13921	1174	41	2	2329	2	SCN11A	3	38924861	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	35724	38924861	159097569	250	7745											
SCN11A	11280	genome.wustl.edu	37	chr3	38945543	38945543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttccacacgaggtacttgGatgccaggttttctccacaa	9	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38945543G>A	ENST00000302328.3	-	12	1853	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S552F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S552F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S552F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	552					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGGTACTTGGATGCCAGGTT	0.507																																																	0								ENSG00000168356						147	123	131					3																	38945543		2203	4300	6503	SCN11A	SO:0001583	missense	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1655C>T	3.37:g.38945543G>A	ENSP00000307599:p.Ser552Phe	Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	69	26.60	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S552F	ENST00000302328.3	37	c.1655	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230666	0.39399	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96232	-3.95;-3.95;-3.9;-3.82	5.58	5.58	0.84498	.	0.817913	0.11467	N	0.561142	D	0.96614	0.8895	L	0.48362	1.52	0.26499	N	0.974809	D	0.67145	0.996	P	0.59703	0.862	D	0.91753	0.5414	10	0.72032	D	0.01	.	11.9989	0.53219	0.0:0.0:0.7309:0.2691	.	552	Q9UI33	SCNBA_HUMAN	F	552	ENSP00000307599:S552F;ENSP00000400945:S552F;ENSP00000416757:S552F;ENSP00000408028:S552F	ENSP00000307599:S552F	S	-	2	0	SCN11A	38920547	0.317000	0.24589	0.920000	0.36463	0.021000	0.10359	3.408000	0.52651	2.628000	0.89032	0.585000	0.79938	TCC	-	NULL		0.507	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	G	NM_014139	-		38945543	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	SNP	0.547	A	A	38945543	G	A	38945543	3	1	112	1	0	0	0	0	1	0	0	0	13921	1174	41	2	3780	2	SCN11A	3	38945543	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	20682	38945543	159076887	251	7746											
CSRNP1	64651	genome.wustl.edu	37	chr3	39184660	39184660	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcccatgagggactccagGaagcaactgctggcatcccc	11	14	0	1	rs267599815		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:39184660G>A	ENST00000273153.5	-	5	1833	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	CSRNP1_ENST00000514182.1_Silent_p.F552F	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	552					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						GGGACTCCAGGAAGCAACTGC	0.577																																																	0								ENSG00000144655						51	59	57					3																	39184660		2203	4300	6503	CSRNP1	SO:0001819	synonymous_variant	0			-	HGNC	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.1656C>T	3.37:g.39184660G>A		Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	57	43.81	Q69YY5	Silent	SNP							prints_Cys/Ser-rich_nuc_prot	p.F552	ENST00000273153.5	37	c.1656	CCDS2682.1	3																																																																																			-	NULL		0.577	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	protein_coding	OTTHUMT00000254061.1	G	NM_033027	-		39184660	-1	no_errors	ENST00000273153	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39184660	G	A	39184660	2	1	112	1	0	0	0	0	0	0	0	1	3965	1165	41	2		2	CSRNP1	3	39184660	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	239117	39184660	158837770	252	7747											
CCBP2	1238	genome.wustl.edu	37	chr3	42906960	42906960	+	Silent	SNP	C	C	T													agtcaccgcttccgccagtaCctgaaggctttcctggctgc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42906960C>T	ENST00000422265.1	+	3	1141	c.966C>T	c.(964-966)taC>taT	p.Y322Y	ACKR2_ENST00000442925.1_Silent_p.Y322Y|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.Y322Y|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	322					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TCCGCCAGTACCTGAAGGCTT	0.567																																																	0								ENSG00000144648						132	106	115					3																	42906960		2203	4300	6503	ACKR2	SO:0001819	synonymous_variant	0			-	HGNC	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.966C>T	3.37:g.42906960C>T		Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.Y322	ENST00000422265.1	37	c.966	CCDS2706.1	3																																																																																			-	prints_Chemokine_rcpt		0.567	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR2	protein_coding	OTTHUMT00000256645.2	C	NM_001296	-		42906960	1	no_errors	ENST00000273145	ensembl	human	known	74_37	silent	SNP	0.798	T	T	42906960	C	T	42906960	2	4	112	1	0	0	0	0	0	0	0	1	2736	518	18	2		2	CCBP2	3	42906960	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3722300	42906960	155115470	253	7748	114	2									
CCBP2	1238	genome.wustl.edu	37	chr3	42906961	42906961	+	Silent	SNP	C	C	T													gtcaccgcttccgccagtacCtgaaggctttcctggctgcc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42906961C>T	ENST00000422265.1	+	3	1142	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	ACKR2_ENST00000442925.1_Silent_p.L323L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.L323L|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	323					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CCGCCAGTACCTGAAGGCTTT	0.567																																																	0								ENSG00000144648						130	105	114					3																	42906961		2203	4300	6503	ACKR2	SO:0001819	synonymous_variant	0			-	HGNC	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.967C>T	3.37:g.42906961C>T		Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.L323	ENST00000422265.1	37	c.967	CCDS2706.1	3																																																																																			-	prints_Chemokine_rcpt		0.567	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR2	protein_coding	OTTHUMT00000256645.2	C	NM_001296	-		42906961	1	no_errors	ENST00000273145	ensembl	human	known	74_37	silent	SNP	0.996	T	T	42906961	C	T	42906961	2	4	112	1	0	0	0	0	0	0	0	1	2736	680	24	2		2	CCBP2	3	42906961	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	42906961	155115469	254	7749	114	2									
CYP8B1	1582	genome.wustl.edu	37	chr3	42916565	42916565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagttgctgatgccctcCttctcctggctgtggctcac	10	15	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42916565C>T	ENST00000316161.4	-	1	1068	c.744G>A	c.(742-744)aaG>aaA	p.K248K	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.K248K|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	248					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGATGCCCTCCTTCTCCTGGC	0.577																																																	0								ENSG00000180432						29	30	30					3																	42916565		2201	4289	6490	CYP8B1	SO:0001819	synonymous_variant	0			-	HGNC	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.744G>A	3.37:g.42916565C>T		Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.K248	ENST00000316161.4	37	c.744	CCDS2707.1	3																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	protein_coding	OTTHUMT00000256653.1	C	NM_004391	-		42916565	-1	no_errors	ENST00000316161	ensembl	human	known	74_37	silent	SNP	0.521	T	T	42916565	C	T	42916565	2	4	112	1	0	0	0	0	0	0	0	1	4200	680	24	2		2	CYP8B1	3	42916565	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9604	42916565	155105865	255	7750											
PRSS42	339906	genome.wustl.edu	37	chr3	46875510	46875510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcgccgccatgcccgCccagttctgcccgggccagg	15	18	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:46875510C>T	ENST00000429665.1	-	1	75	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	26					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						GCCATGCCCGCCCAGTTCTGC	0.731																																																	0								ENSG00000178055						5	8	7					3																	46875510		1779	3887	5666	PRSS42	SO:0001583	missense	0			-	HGNC		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"Serine peptidases / Serine peptidases"	30716	protein-coding gene	gene with protein product	"testis serine protease 2"					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.76G>A	3.37:g.46875510C>T	ENSP00000401701:p.Ala26Thr	Somatic	0	117	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	94	38.56		Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A26T	ENST00000429665.1	37	c.76	CCDS46816.1	3	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217013	0.58560	.	.	ENSG00000178055	ENST00000429665	D	0.88741	-2.42	3.05	2.15	0.27550	.	0.542374	0.13920	N	0.353644	T	0.79293	0.4421	L	0.27053	0.805	0.09310	N	1	P	0.47762	0.9	B	0.40506	0.331	T	0.67852	-0.5563	10	0.29301	T	0.29	.	7.3808	0.26854	0.2602:0.7398:0.0:0.0	.	26	Q7Z5A4	PRS42_HUMAN	T	26	ENSP00000401701:A26T	ENSP00000401701:A26T	A	-	1	0	PRSS42	46850514	0.000000	0.05858	0.003000	0.11579	0.119000	0.20118	0.102000	0.15272	0.805000	0.34159	0.407000	0.27541	GCG	-	NULL		0.731	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	protein_coding	OTTHUMT00000344347.1	C	NM_182702	-		46875510	-1	no_errors	ENST00000429665	ensembl	human	known	74_37	missense	SNP	0.005	T	T	46875510	C	T	46875510	3	4	112	1	0	0	0	0	1	0	0	0	12633	739	26	2	824	2	PRSS42	3	46875510	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3958945	46875510	151146920	256	7751											
DOCK3	1795	genome.wustl.edu	37	chr3	51273845	51273845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagtacggcctgttgGtttttcagtctctggtaagt	12	7	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:51273845G>A	ENST00000266037.9	+	20	2010	c.1987G>A	c.(1987-1989)Gtt>Att	p.V663I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	663					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CGGCCTGTTGGTTTTTCAGTC	0.353																																																	0								ENSG00000088538						211	196	201					3																	51273845		1846	4086	5932	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1987G>A	3.37:g.51273845G>A	ENSP00000266037:p.Val663Ile	Somatic	0	143	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	79	35.77	O15017	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.V663I	ENST00000266037.9	37	c.1987	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.069523	0.93950	.	.	ENSG00000088538	ENST00000266037	T	0.24350	1.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63812	-0.6552	10	0.45353	T	0.12	.	19.2175	0.93783	0.0:0.0:1.0:0.0	.	663	Q8IZD9	DOCK3_HUMAN	I	663	ENSP00000266037:V663I	ENSP00000266037:V663I	V	+	1	0	DOCK3	51248885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.809000	0.99208	2.608000	0.88229	0.655000	0.94253	GTT	-	superfamily_ARM-type_fold		0.353	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	G	NM_004947	-		51273845	1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51273845	G	A	51273845	3	1	112	1	0	0	0	0	1	0	0	0	4690	1261	44	2	2065	2	DOCK3	3	51273845	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4398335	51273845	146748585	257	7752											
GRM2	2912	genome.wustl.edu	37	chr3	51749376	51749376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccgtgccagccctatgaGtaccgattggacgaattcac	9	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:51749376G>A	ENST00000395052.3	+	4	1821	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	529					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCCCTATGAGTACCGATTGG	0.607																																																	0								ENSG00000164082						39	35	36					3																	51749376		2203	4296	6499	GRM2	SO:0001819	synonymous_variant	0			-	HGNC	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1587G>A	3.37:g.51749376G>A		Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.E529	ENST00000395052.3	37	c.1587	CCDS2834.1	3																																																																																			-	pfam_GPCR_3_9-Cys_dom		0.607	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	protein_coding	OTTHUMT00000346542.1	G		-		51749376	1	no_errors	ENST00000395052	ensembl	human	known	74_37	silent	SNP	1.000	A	A	51749376	G	A	51749376	2	1	112	1	0	0	0	0	0	0	0	1	6799	1020	36	2		2	GRM2	3	51749376	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	475531	51749376	146273054	258	7753											
GRM2	2912	genome.wustl.edu	37	chr3	51751814	51751814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgctgctgccagggcCagctccagccttggccaagg	15	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:51751814C>T	ENST00000395052.3	+	5	2760	c.2526C>T	c.(2524-2526)gcC>gcT	p.A842A	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Silent_p.A564A	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	842					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCCAGGGCCAGCTCCAGCC	0.617																																																	0								ENSG00000164082						44	44	44					3																	51751814		2203	4300	6503	GRM2	SO:0001819	synonymous_variant	0			-	HGNC	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2526C>T	3.37:g.51751814C>T		Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	37	44.12	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.A842	ENST00000395052.3	37	c.2526	CCDS2834.1	3																																																																																			-	prints_GPCR_3_mtglu_rcpt_2		0.617	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	protein_coding	OTTHUMT00000346542.1	C		-		51751814	1	no_errors	ENST00000395052	ensembl	human	known	74_37	silent	SNP	0.992	T	T	51751814	C	T	51751814	2	4	112	1	0	0	0	0	0	0	0	1	6799	581	21	2		2	GRM2	3	51751814	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2438	51751814	146270616	259	7754											
ACY1	95	genome.wustl.edu	37	chr3	52019253	52019253	+	Frame_Shift_Del	DEL	C	C	-													ggctttctttgaggagacagCccgccagctgggcctgggct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:52019253delC	ENST00000404366.2	+	3	271	c.125delC	c.(124-126)gccfs	p.A42fs	ACY1_ENST00000494103.1_Frame_Shift_Del_p.A42fs|ACY1_ENST00000476854.1_Frame_Shift_Del_p.A42fs|ACY1_ENST00000476351.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Del_p.A143fs|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000458031.2_Frame_Shift_Del_p.A132fs	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	42					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GAGGAGACAGCCCGCCAGCTG	0.647																																																	0								ENSG00000243989						26	25	25					3																	52019253		2202	4300	6502	ACY1	SO:0001589	frameshift_variant	0				HGNC	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.125delC	3.37:g.52019253delC	ENSP00000384296:p.Ala42fs	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	C9J6I6|C9J9D8|C9JWD4	Frame_Shift_Del	DEL							pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.R133fs	ENST00000404366.2	37	c.395	CCDS2844.1	3																																																																																			-	tigrfam_N-acyl_aa_amidohydrolase		0.647	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	protein_coding	OTTHUMT00000349657.1	C	NM_000666			52019253	1	no_errors	ENST00000458031	ensembl	human	known	74_37	frame_shift_del	DEL	0.952	-	-	52019253	C	-	52019253	7	5	112	1	0	1	0	1	0	0	0	0	226	739	26	0	131	0	ACY1	3	52019253	Frame_Shift_Del	DEL	C	TCGA-DX-AB2E-01A-11D-A38Z-09	267439	52019253	146003177	260	7755											
ALAS1	211	genome.wustl.edu	37	chr3	52237962	52237962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggactgctgaagaacttcCaggacatcatgcaaaagcaa	10	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:52237962C>T	ENST00000394965.2	+	5	871	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	ALAS1_ENST00000469224.1_Nonsense_Mutation_p.Q171*|ALAS1_ENST00000484952.1_Nonsense_Mutation_p.Q171*|ALAS1_ENST00000310271.2_Nonsense_Mutation_p.Q171*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	171					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GAAGAACTTCCAGGACATCAT	0.438																																																	0								ENSG00000023330						127	116	120					3																	52237962		2203	4300	6503	ALAS1	SO:0001587	stop_gained	0			-	HGNC	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.511C>T	3.37:g.52237962C>T	ENSP00000378416:p.Gln171*	Somatic	0	99	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	76	32.14		Nonsense_Mutation	SNP							pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.Q171*	ENST00000394965.2	37	c.511	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.978090	0.97979	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	.	.	.	5.9	4.97	0.65823	.	0.196934	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-29.7319	12.4163	0.55496	0.137:0.744:0.119:0.0	.	.	.	.	X	171	.	ENSP00000309259:Q171X	Q	+	1	0	ALAS1	52213002	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.459000	0.45023	2.788000	0.95919	0.655000	0.94253	CAG	-	NULL		0.438	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	protein_coding	OTTHUMT00000350207.1	C		-		52237962	1	no_errors	ENST00000310271	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	52237962	C	T	52237962	4	4	112	1	0	0	0	0	0	1	0	0	484	595	21	2	521	2	ALAS1	3	52237962	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	218709	52237962	145784468	261	7756											
CACNA1D	776	genome.wustl.edu	37	chr3	53699708	53699708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttacaagttgtcctgaactCcattataaaagccatggttc	6	9	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:53699708C>T	ENST00000350061.5	+	6	1299	c.788C>T	c.(787-789)tCc>tTc	p.S263F	CACNA1D_ENST00000288139.4_Missense_Mutation_p.S263F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S263F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCCTGAACTCCATTATAAAA	0.343																																																	0								ENSG00000157388						133	134	133					3																	53699708		2203	4300	6503	CACNA1D	SO:0001583	missense	0			-	HGNC	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.788C>T	3.37:g.53699708C>T	ENSP00000288133:p.Ser263Phe	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	107	22.46	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.S263F	ENST00000350061.5	37	c.788	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692038	0.88735	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98835	-5.17;-5.17;-5.17	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99545	0.9837	H	0.98577	4.27	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	0.97810	1.0250	10	0.87932	D	0	.	18.6572	0.91458	0.0:1.0:0.0:0.0	.	263;263;263	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	F	263	ENSP00000288133:S263F;ENSP00000288139:S263F;ENSP00000409174:S263F	ENSP00000288139:S263F	S	+	2	0	CACNA1D	53674748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	TCC	-	pfam_Ion_trans_dom,prints_VDCCAlpha1		0.343	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	C	NM_000720	-		53699708	1	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53699708	C	T	53699708	3	4	112	1	0	0	0	0	1	0	0	0	2543	855	30	2	810	2	CACNA1D	3	53699708	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1461746	53699708	144322722	262	7757											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54925446	54925446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctctccagaatcaacCtgtttgtcggggctgagcag	13	12	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:54925446C>T	ENST00000474759.1	+	25	2263	c.2215C>T	c.(2215-2217)Ctg>Ttg	p.L739L	CACNA2D3_ENST00000490478.1_Silent_p.L645L|CACNA2D3_ENST00000288197.5_Silent_p.L739L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.L739L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	739						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)	CAGAATCAACCTGTTTGTCGG	0.542																																																	0								ENSG00000157445						55	56	56					3																	54925446		1872	4090	5962	CACNA2D3	SO:0001819	synonymous_variant	0			-	HGNC	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.2215C>T	3.37:g.54925446C>T		Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	52	34.18	B2RPL6|Q9NY16|Q9NY18	Silent	SNP							pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L739	ENST00000474759.1	37	c.2215	CCDS54598.1	3																																																																																			-	NULL		0.542	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	C		-		54925446	1	no_errors	ENST00000288197	ensembl	human	known	74_37	silent	SNP	1.000	T	T	54925446	C	T	54925446	2	4	112	1	0	0	0	0	0	0	0	1	2552	680	24	2		2	CACNA2D3	3	54925446	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1225738	54925446	143096984	263	7758											
ERC2	26059	genome.wustl.edu	37	chr3	56468889	56468889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggctgcattgagggactgGatattctccatagacagagt	12	7	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:56468889G>A	ENST00000288221.6	-	2	402	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	49						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGAGGGACTGGATATTCTCCA	0.532																																																	0								ENSG00000187672						143	139	140					3																	56468889		2019	4182	6201	ERC2	SO:0001819	synonymous_variant	0			-	HGNC	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.147C>T	3.37:g.56468889G>A		Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	Q2T9F6|Q86TK4	Silent	SNP							pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.I49	ENST00000288221.6	37	c.147	CCDS46851.1	3																																																																																			-	NULL		0.532	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	protein_coding	OTTHUMT00000350884.2	G	NM_015576	-		56468889	-1	no_errors	ENST00000288221	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56468889	G	A	56468889	2	1	112	1	0	0	0	0	0	0	0	1	5213	1164	41	2		2	ERC2	3	56468889	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1543443	56468889	141553541	264	7759											
FLNB	2317	genome.wustl.edu	37	chr3	58134560	58134560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgagatgtctgacttcatCgtggacacaagggatgcagg	13	8	2	2	rs144036986	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:58134560C>T	ENST00000295956.4	+	36	6237	c.6072C>T	c.(6070-6072)atC>atT	p.I2024I	FLNB_ENST00000490882.1_Silent_p.I2055I|FLNB_ENST00000429972.2_Silent_p.I2013I|FLNB_ENST00000493452.1_Silent_p.I1831I|FLNB_ENST00000357272.4_Silent_p.I2024I|FLNB_ENST00000358537.3_Silent_p.I2000I|FLNB_ENST00000348383.5_Silent_p.I2024I|FLNB_ENST00000419752.2_Silent_p.I1844I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2024	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGACTTCATCGTGGACACAA	0.567													C|||	2	0.000399361	0.0015	0	5008	,	,		19544	0		0	False		,,,				2504	0																0								ENSG00000136068	C	,,,	4,4402	8.1+/-20.4	0,4,2199	61	62	62		6165,6039,6000,6072	-5.3	0.8	3	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,	2055/2634,2013/2592,2000/2579,2024/2603	58134560	4,13002	2203	4300	6503	FLNB	SO:0001819	synonymous_variant	0			-	HGNC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6072C>T	3.37:g.58134560C>T		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I2024	ENST00000295956.4	37	c.6072	CCDS2885.1	3																																																																																			-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	C	NM_001457	rs144036986		58134560	1	no_errors	ENST00000295956	ensembl	human	known	74_37	silent	SNP	0.242	T	T	58134560	C	T	58134560	2	4	112	1	0	0	0	0	0	0	0	1	5936	874	31	1		1	FLNB	3	58134560	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1665671	58134560	139887870	265	7760											
FAM3D	131177	genome.wustl.edu	37	chr3	58622108	58622108	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttgttttgcgtaggaactCcccaagtcagagaagagttt	11	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:58622108C>T	ENST00000358781.2	-	9	808	c.498G>A	c.(496-498)ggG>ggA	p.G166G	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	166					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CGTAGGAACTCCCCAAGTCAG	0.567																																																	0								ENSG00000198643						92	92	92					3																	58622108		2203	4300	6503	FAM3D	SO:0001819	synonymous_variant	0			-	HGNC	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.498G>A	3.37:g.58622108C>T		Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	71	20.22	Q547G2	Silent	SNP							NULL	p.G166	ENST00000358781.2	37	c.498	CCDS2893.1	3																																																																																			-	NULL		0.567	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	protein_coding	OTTHUMT00000353494.1	C	NM_138805	-		58622108	-1	no_errors	ENST00000358781	ensembl	human	known	74_37	silent	SNP	0.918	T	T	58622108	C	T	58622108	2	4	112	1	0	0	0	0	0	0	0	1	5561	842	30	2		2	FAM3D	3	58622108	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	487548	58622108	139400322	266	7761											
CADPS	8618	genome.wustl.edu	37	chr3	62631501	62631501	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaaagatttgaggccttgGacttccataattaccacctg	8	11	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:62631501G>A	ENST00000383710.4	-	6	1570	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	CADPS_ENST00000357948.3_Silent_p.V407V|CADPS_ENST00000283269.9_Silent_p.V407V|CADPS_ENST00000490353.2_Silent_p.V407V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	407	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)		TGAGGCCTTGGACTTCCATAA	0.468																																																	0								ENSG00000163618						143	135	138					3																	62631501		2203	4300	6503	CADPS	SO:0001819	synonymous_variant	0			-	HGNC	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.1221C>T	3.37:g.62631501G>A		Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	50	32.00	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP							pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V407	ENST00000383710.4	37	c.1221	CCDS46858.1	3																																																																																			-	superfamily_C2_dom		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394	-		62631501	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	silent	SNP	0.763	A	A	62631501	G	A	62631501	2	1	112	1	0	0	0	0	0	0	0	1	2572	1161	41	2		2	CADPS	3	62631501	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4009393	62631501	135390929	267	7762											
LMOD3	56203	genome.wustl.edu	37	chr3	69168854	69168854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtctagagctaacttcttagGatctaatttcgatatttttt	6	6	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:69168854G>T	ENST00000420581.2	-	2	831	c.652C>A	c.(652-654)Cct>Act	p.P218T	LMOD3_ENST00000475434.1_Missense_Mutation_p.P218T|LMOD3_ENST00000489031.1_Missense_Mutation_p.P218T	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	218						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AACTTCTTAGGATCTAATTTC	0.428																																																	0								ENSG00000163380						96	89	91					3																	69168854		1877	4106	5983	LMOD3	SO:0001583	missense	0			-	HGNC	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.652C>A	3.37:g.69168854G>T	ENSP00000414670:p.Pro218Thr	Somatic	0	100	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	42	48.78	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP							pfam_Tropomodulin	p.P218T	ENST00000420581.2	37	c.652	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769528	0.49680	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92965	-3.14;-3.14;-3.14	5.34	4.44	0.53790	.	0.049598	0.85682	D	0.000000	D	0.93223	0.7841	L	0.36672	1.1	0.43099	D	0.994785	D	0.89917	1.0	D	0.85130	0.997	D	0.91383	0.5129	10	0.22706	T	0.39	-10.9551	15.8868	0.79255	0.0:0.1358:0.8642:0.0	.	218	Q0VAK6	LMOD3_HUMAN	T	218	ENSP00000414670:P218T;ENSP00000417210:P218T;ENSP00000418645:P218T	ENSP00000414670:P218T	P	-	1	0	LMOD3	69251544	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.140000	0.64807	1.209000	0.43321	0.591000	0.81541	CCT	-	NULL		0.428	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	protein_coding	OTTHUMT00000352138.1	G	XM_067529	-		69168854	-1	no_errors	ENST00000420581	ensembl	human	known	74_37	missense	SNP	0.995	T	T	69168854	G	T	69168854	3	4	112	1	0	0	0	0	1	0	0	0	8860	1174	41	3	1038	3	LMOD3	3	69168854	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6537353	69168854	128853576	268	7763											
ROBO2	6092	genome.wustl.edu	37	chr3	77542416	77542416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacccacatttctcaggaGgccaattaaccaggtggtac	9	12	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:77542416G>A	ENST00000461745.1	+	5	1589	c.689G>A	c.(688-690)aGg>aAg	p.R230K	ROBO2_ENST00000332191.8_Missense_Mutation_p.R230K|ROBO2_ENST00000487694.3_Missense_Mutation_p.R246K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	230	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTCTCAGGAGGCCAATTAAC	0.378																																																	0								ENSG00000185008						126	113	117					3																	77542416		1855	4109	5964	ROBO2	SO:0001583	missense	0			-	HGNC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.689G>A	3.37:g.77542416G>A	ENSP00000417164:p.Arg230Lys	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R230K	ENST00000461745.1	37	c.689	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014250	0.93404	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64803	-0.12;-0.12;-0.12	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	U	0.000170	T	0.59865	0.2225	N	0.04132	-0.27	0.35816	D	0.824218	D;D;D	0.69078	0.997;0.997;0.997	D;P;D	0.65323	0.934;0.891;0.934	T	0.61613	-0.7027	9	0.20519	T	0.43	.	20.2267	0.98341	0.0:0.0:1.0:0.0	.	246;230;230	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	K	246;246;246;230;230	ENSP00000417335:R246K;ENSP00000417164:R230K;ENSP00000327536:R230K	ENSP00000327536:R230K	R	+	2	0	ROBO2	77625106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.992000	0.88273	2.791000	0.96007	0.491000	0.48974	AGG	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000352600.2	G	XM_031246	-		77542416	1	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77542416	G	A	77542416	3	1	112	1	0	0	0	0	1	0	0	0	13522	1000	35	2	709	2	ROBO2	3	77542416	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8373562	77542416	120480014	269	7764											
GBE1	2632	genome.wustl.edu	37	chr3	81699029	81699029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacatactttgcccacggtGaaatacgatacaagatctct	6	12	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:81699029G>A	ENST00000429644.2	-	4	1116	c.473C>T	c.(472-474)tCa>tTa	p.S158L	GBE1_ENST00000489715.1_Missense_Mutation_p.S117L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	158					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCCCACGGTGAAATACGATA	0.358									Glycogen Storage Disease, type IV																																								0								ENSG00000114480						92	88	89					3																	81699029		1869	4112	5981	GBE1	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-	HGNC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.473C>T	3.37:g.81699029G>A	ENSP00000410833:p.Ser158Leu	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	55	42.11	B3KWV3|Q96EN0	Missense_Mutation	SNP							pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.S158L	ENST00000429644.2	37	c.473	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.273275	0.95429	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18338	2.22;2.23	5.83	5.83	0.93111	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	M	0.81112	2.525	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.69479	0.806;0.964	T	0.45498	-0.9257	10	0.87932	D	0	-14.7447	20.1104	0.97910	0.0:0.0:1.0:0.0	.	117;158	E9PGM4;Q04446	.;GLGB_HUMAN	L	158;209;117	ENSP00000410833:S158L;ENSP00000419638:S117L	ENSP00000264326:S209L	S	-	2	0	GBE1	81781719	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.418000	0.97395	2.760000	0.94817	0.650000	0.86243	TCA	-	pfam_Glyco_hydro_13_N,superfamily_Ig_E-set		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	protein_coding	OTTHUMT00000352760.2	G		-		81699029	-1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	SNP	1.000	A	A	81699029	G	A	81699029	3	1	112	1	0	0	0	0	1	0	0	0	6272	1294	45	2	1687	2	GBE1	3	81699029	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4156613	81699029	116323401	270	7765											
CADM2	253559	genome.wustl.edu	37	chr3	85851283	85851283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgcagggttgatcaaaatGataacacctccctccagtgg	9	12	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:85851283G>A	ENST00000407528.2	+	2	210	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CADM2_ENST00000405615.2_Missense_Mutation_p.D52N|CADM2_ENST00000383699.3_Missense_Mutation_p.D59N|CADM2-AS2_ENST00000467225.1_RNA	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	50	Ig-like V-type.				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)				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)		TGATCAAAATGATAACACCTC	0.413																																																	0								ENSG00000175161						87	73	78					3																	85851283		2203	4300	6503	CADM2	SO:0001583	missense	0			-	HGNC	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.148G>A	3.37:g.85851283G>A	ENSP00000384575:p.Asp50Asn	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	32	54.93	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.D52N	ENST00000407528.2	37	c.154	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.172452	0.94807	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.26957	1.7;1.7;1.7	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.87578	0.961;0.991;0.998	T	0.17561	-1.0365	10	0.23302	T	0.38	.	19.2384	0.93871	0.0:0.0:1.0:0.0	.	52;59;50	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	N	59;50;52	ENSP00000373200:D59N;ENSP00000384575:D50N;ENSP00000384193:D52N	ENSP00000373200:D59N	D	+	1	0	CADM2	85933973	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.420000	0.97426	2.621000	0.88768	0.544000	0.68410	GAT	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.413	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	protein_coding	OTTHUMT00000352822.1	G	NM_153184	-		85851283	1	no_errors	ENST00000405615	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85851283	G	A	85851283	3	1	112	1	0	0	0	0	1	0	0	0	2569	1290	45	2	225	2	CADM2	3	85851283	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4152254	85851283	112171147	271	7766											
COL8A1	1295	genome.wustl.edu	37	chr3	99514510	99514510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtatctgccagatatgGggctgggaattgatggcgtg	17	5	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:99514510G>A	ENST00000261037.3	+	5	2145	c.1765G>A	c.(1765-1767)Ggg>Agg	p.G589R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G589R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	589	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCAGATATGGGGCTGGGAAT	0.622																																																	0								ENSG00000144810						49	49	49					3																	99514510		2203	4300	6503	COL8A1	SO:0001583	missense	0			-	HGNC	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1765G>A	3.37:g.99514510G>A	ENSP00000261037:p.Gly589Arg	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP							pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G589R	ENST00000261037.3	37	c.1765	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148877	0.57151	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.91011	-2.77;-2.77	5.58	5.58	0.84498	.	0.049811	0.85682	D	0.000000	D	0.82761	0.5107	N	0.08118	0	0.80722	D	1	P;P	0.50443	0.935;0.935	P;P	0.45449	0.481;0.481	T	0.81701	-0.0813	10	0.14252	T	0.57	.	17.05	0.86516	0.0:0.0:1.0:0.0	.	590;589	E7EPK9;P27658	.;CO8A1_HUMAN	R	589	ENSP00000261037:G589R;ENSP00000273342:G589R	ENSP00000261037:G589R	G	+	1	0	COL8A1	100997200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.780000	0.68956	2.630000	0.89119	0.563000	0.77884	GGG	-	NULL		0.622	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	protein_coding	OTTHUMT00000309001.1	G	NM_001850	-		99514510	1	no_errors	ENST00000261037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99514510	G	A	99514510	3	1	112	1	0	0	0	0	1	0	0	0	3707	1232	43	2	1771	2	COL8A1	3	99514510	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	13663227	99514510	98507920	272	7767											
MYH15	22989	genome.wustl.edu	37	chr3	108175673	108175673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacggcatatcctagtcCcttccaagacaccattacag	5	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108175673C>T	ENST00000273353.3	-	20	2194	c.2138G>A	c.(2137-2139)gGg>gAg	p.G713E	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	713	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						TATCCTAGTCCCTTCCAAGAC	0.433																																																	0								ENSG00000144821						156	144	148					3																	108175673		1844	4093	5937	MYH15	SO:0001583	missense	0			-	HGNC	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.2138G>A	3.37:g.108175673C>T	ENSP00000273353:p.Gly713Glu	Somatic	0	85	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	54	43.16		Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.G713E	ENST00000273353.3	37	c.2138	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830782	0.50845	.	.	ENSG00000144821	ENST00000273353	D	0.87729	-2.29	5.88	0.208	0.15221	Myosin head, motor domain (2);	.	.	.	.	D	0.94489	0.8226	H	0.97962	4.115	0.42866	D	0.994127	D	0.89917	1.0	D	0.97110	1.0	D	0.90781	0.4679	9	0.87932	D	0	.	4.8838	0.13692	0.1069:0.5911:0.1043:0.1976	.	713	Q9Y2K3	MYH15_HUMAN	E	713	ENSP00000273353:G713E	ENSP00000273353:G713E	G	-	2	0	MYH15	109658363	0.384000	0.25164	0.125000	0.21846	0.293000	0.27360	1.062000	0.30555	0.081000	0.16988	0.591000	0.81541	GGG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	C	XM_036988	-		108175673	-1	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	SNP	0.837	T	T	108175673	C	T	108175673	3	4	112	1	0	0	0	0	1	0	0	0	10036	623	22	2	3794	2	MYH15	3	108175673	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	8661163	108175673	89846757	273	7768											
DZIP3	9666	genome.wustl.edu	37	chr3	108406846	108406846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacttacagatttcttacGgaaattgaaggatgcttatg	10	5	1	2	rs138409858	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108406846G>A	ENST00000361582.3	+	29	3403	c.3173G>A	c.(3172-3174)cGg>cAg	p.R1058Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.R1058Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1058					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GATTTCTTACGGAAATTGAAG	0.383													G|||	4	0.000798722	0.003	0	5008	,	,		18562	0		0	False		,,,				2504	0																0								ENSG00000198919	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	89	86	87		3173	3.6	1	3	dbSNP_134	87	2,8598	1.2+/-3.3	0,2,4298	no	missense	DZIP3	NM_014648.3	43	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	1058/1209	108406846	4,13002	2203	4300	6503	DZIP3	SO:0001583	missense	0			-	HGNC	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3173G>A	3.37:g.108406846G>A	ENSP00000355028:p.Arg1058Gln	Somatic	0	139	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	89	36.43	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R1058Q	ENST00000361582.3	37	c.3173	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342064	0.24339	4.54E-4	2.33E-4	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.14893	2.47;2.47	5.45	3.57	0.40892	.	0.309652	0.22974	N	0.053383	T	0.07548	0.0190	N	0.12182	0.205	0.23468	N	0.997612	B;B	0.16603	0.015;0.018	B;B	0.10450	0.005;0.003	T	0.39663	-0.9603	10	0.10636	T	0.68	-3.0104	6.2499	0.20839	0.2447:0.0:0.7553:0.0	.	676;1058	D3DN61;Q86Y13	.;DZIP3_HUMAN	Q	1058	ENSP00000355028:R1058Q;ENSP00000419981:R1058Q	ENSP00000355028:R1058Q	R	+	2	0	DZIP3	109889536	0.992000	0.36948	0.955000	0.39395	0.648000	0.38561	1.539000	0.36104	0.762000	0.33152	0.655000	0.94253	CGG	-	NULL		0.383	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	protein_coding	OTTHUMT00000353968.1	G	NM_014648	rs138409858		108406846	1	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	SNP	0.993	A	A	108406846	G	A	108406846	3	1	112	1	0	0	0	0	1	0	0	0	4867	1116	39	1	3283	1	DZIP3	3	108406846	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	231173	108406846	89615584	274	7769											
RETNLB	84666	genome.wustl.edu	37	chr3	108476006	108476006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagaagggggattaggatGagaaggaggcaagaggacgg	21	2	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108476006G>A	ENST00000295755.6	-	1	225	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	9					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGATTAGGATGAGAAGGAGGC	0.517																																																	0								ENSG00000163515						69	61	64					3																	108476006		2203	4300	6503	RETNLB	SO:0001819	synonymous_variant	0			-	HGNC	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.27C>T	3.37:g.108476006G>A		Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	57	29.63	Q14D27	Silent	SNP							pfam_Resistin,superfamily_Resistin	p.L9	ENST00000295755.6	37	c.27	CCDS2953.1	3																																																																																			-	pfam_Resistin		0.517	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	protein_coding	OTTHUMT00000355093.1	G		-		108476006	-1	no_errors	ENST00000295755	ensembl	human	known	74_37	silent	SNP	0.981	A	A	108476006	G	A	108476006	2	1	112	1	0	0	0	0	0	0	0	1	13245	1277	45	2		2	RETNLB	3	108476006	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	69160	108476006	89546424	275	7770											
MORC1	27136	genome.wustl.edu	37	chr3	108698393	108698393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcagttttctcactgtttCcttgacaggtgtgctttgag	9	9	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108698393C>T	ENST00000483760.1	-	23	2426	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	MORC1_ENST00000232603.5_Missense_Mutation_p.E816K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACTGTTTCCTTGACAGGT	0.398																																																	0								ENSG00000114487						117	121	120					3																	108698393		2203	4300	6503	MORC1	SO:0001583	missense	0			-	HGNC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2383G>A	3.37:g.108698393C>T	ENSP00000417282:p.Glu795Lys	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33		Missense_Mutation	SNP							pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.E816K	ENST00000483760.1	37	c.2446		3	.	.	.	.	.	.	.	.	.	.	C	9.822	1.186017	0.21870	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.09073	3.11;3.02	5.07	4.18	0.49190	.	0.000000	0.44688	D	0.000440	T	0.06234	0.0161	L	0.34521	1.04	0.32954	D	0.520095	B;B	0.27997	0.197;0.197	B;B	0.21708	0.036;0.036	T	0.11470	-1.0586	10	0.23891	T	0.37	-15.818	9.558	0.39351	0.0:0.9031:0.0:0.0969	.	795;816	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	816;795	ENSP00000232603:E816K;ENSP00000417282:E795K	ENSP00000232603:E816K	E	-	1	0	MORC1	110181083	0.998000	0.40836	0.995000	0.50966	0.126000	0.20510	1.141000	0.31528	2.650000	0.89964	0.655000	0.94253	GAA	-	NULL		0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	C		-		108698393	-1	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	SNP	0.998	T	T	108698393	C	T	108698393	3	4	112	1	0	0	0	0	1	0	0	0	9703	864	30	2	528	2	MORC1	3	108698393	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	222387	108698393	89324037	276	7771											
DPPA4	55211	genome.wustl.edu	37	chr3	109047903	109047903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatctgtgtctgcagggaGacttttcccatggaccacac	9	13	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:109047903G>A	ENST00000335658.6	-	6	766	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	238					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TCTGCAGGGAGACTTTTCCCA	0.512																																																	0								ENSG00000121570						61	57	59					3																	109047903		2203	4300	6503	DPPA4	SO:0001583	missense	0			-	HGNC	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.712C>T	3.37:g.109047903G>A	ENSP00000335306:p.Leu238Phe	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP							NULL	p.L238F	ENST00000335658.6	37	c.712	CCDS33814.1	3	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461392	0.63513	.	.	ENSG00000121570	ENST00000335658	T	0.28454	1.61	4.91	2.11	0.27256	.	0.251277	0.28683	N	0.014493	T	0.36826	0.0981	L	0.43152	1.355	0.28188	N	0.927863	D	0.58268	0.982	P	0.62740	0.906	T	0.12243	-1.0555	10	0.72032	D	0.01	-13.666	3.905	0.09178	0.1954:0.0:0.6134:0.1912	.	238	Q7L190	DPPA4_HUMAN	F	238	ENSP00000335306:L238F	ENSP00000335306:L238F	L	-	1	0	DPPA4	110530593	0.972000	0.33761	0.959000	0.39883	0.976000	0.68499	0.662000	0.25038	0.755000	0.32990	0.467000	0.42956	CTC	-	NULL		0.512	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	protein_coding	OTTHUMT00000353897.1	G	NM_018189	-		109047903	-1	no_errors	ENST00000335658	ensembl	human	known	74_37	missense	SNP	0.719	A	A	109047903	G	A	109047903	3	1	112	1	0	0	0	0	1	0	0	0	4738	942	33	2	210	2	DPPA4	3	109047903	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	349510	109047903	88974527	277	7772											
PHLDB2	90102	genome.wustl.edu	37	chr3	111604063	111604063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagagtttttgcgaccaGgaggaacttctcttgtggat	12	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:111604063G>A	ENST00000431670.2	+	2	1550	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	PHLDB2_ENST00000477695.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R407K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R380K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	380						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTTGCGACCAGGAGGAACTTC	0.517																																																	0								ENSG00000144824						86	86	86					3																	111604063		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1139G>A	3.37:g.111604063G>A	ENSP00000405405:p.Arg380Lys	Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R380K	ENST00000431670.2	37	c.1139	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898929	0.33535	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.36340	1.26;1.31;1.28;1.28;1.31;1.28	5.78	4.91	0.64330	.	0.240234	0.43919	N	0.000509	T	0.32675	0.0837	M	0.62723	1.935	0.30947	N	0.725219	B;B;P;B;B	0.41131	0.002;0.003;0.739;0.073;0.167	B;B;B;B;B	0.36464	0.004;0.006;0.225;0.053;0.079	T	0.45614	-0.9249	10	0.42905	T	0.14	.	9.1171	0.36764	0.1654:0.0:0.8346:0.0	.	380;380;380;380;407	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	407;407;380;380;380;380;380;380;380	ENSP00000377500:R407K;ENSP00000405405:R380K;ENSP00000405292:R380K;ENSP00000418296:R380K;ENSP00000377502:R380K;ENSP00000418319:R380K	ENSP00000352764:R407K	R	+	2	0	PHLDB2	113086753	1.000000	0.71417	0.919000	0.36401	0.449000	0.32228	4.054000	0.57434	1.592000	0.50018	0.655000	0.94253	AGG	-	NULL		0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	G	NM_145753	-		111604063	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	0.893	A	A	111604063	G	A	111604063	3	1	112	1	0	0	0	0	1	0	0	0	11854	1000	35	2	1226	2	PHLDB2	3	111604063	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2556160	111604063	86418367	278	7773											
WDR52	55779	genome.wustl.edu	37	chr3	113046491	113046491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgttcctctttgtctaagGaattaacacgttcttgaagt	7	8	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:113046491G>A	ENST00000393845.2	-	27	4358	c.4292C>T	c.(4291-4293)tCc>tTc	p.S1431F	WDR52_ENST00000308346.6_Missense_Mutation_p.S34F	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTTGTCTAAGGAATTAACACG	0.373																																																	0								ENSG00000206530						221	168	184					3																	113046491		692	1591	2283	WDR52	SO:0001583	missense	0			-	HGNC																												ENST00000393845.2:c.4292C>T	3.37:g.113046491G>A	ENSP00000377428:p.Ser1431Phe	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	46	41.25		Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1431F	ENST00000393845.2	37	c.4292	CCDS54624.1	3	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132410	0.56828	.	.	ENSG00000206530	ENST00000393845;ENST00000308346	T;T	0.44881	2.78;0.91	6.04	5.16	0.70880	.	1.034180	0.07566	N	0.917743	T	0.57577	0.2063	L	0.56769	1.78	0.28787	N	0.899522	D	0.67145	0.996	P	0.59115	0.852	T	0.45512	-0.9256	10	0.59425	D	0.04	-5.064	10.0109	0.41986	0.072:0.1375:0.7905:0.0	.	1431	Q96MT7-2	.	F	1431;34	ENSP00000377428:S1431F;ENSP00000311497:S34F	ENSP00000311497:S34F	S	-	2	0	WDR52	114529181	0.156000	0.22821	0.815000	0.32552	0.687000	0.40016	1.055000	0.30467	1.562000	0.49601	0.561000	0.74099	TCC	-	NULL		0.373	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	protein_coding		G		-		113046491	-1	no_errors	ENST00000393845	ensembl	human	known	74_37	missense	SNP	0.842	A	A	113046491	G	A	113046491	3	1	112	1	0	0	0	0	1	0	0	0	17311	1174	41	2	1308	2	WDR52	3	113046491	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1442428	113046491	84975939	279	7774											
CD80	941	genome.wustl.edu	37	chr3	119263509	119263509	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgggcgcagagccaggatCacaatggagaggttattagt	15	6	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:119263509C>T	ENST00000264246.3	-	3	668	c.306G>A	c.(304-306)gtG>gtA	p.V102V	CD80_ENST00000383668.3_Silent_p.V102V|CD80_ENST00000478182.1_Silent_p.V102V|CD80_ENST00000383669.3_Silent_p.V102V	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	102	Ig-like V-type.				cell-cell signaling (GO:0007267)|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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GAGCCAGGATCACAATGGAGA	0.473																																					Melanoma(132;135 1764 1806 5833 14593)												0								ENSG00000121594						146	141	142					3																	119263509		2203	4300	6503	CD80	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.306G>A	3.37:g.119263509C>T		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	57	35.23	Q5DTA9|Q5DTB0	Silent	SNP							pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom	p.V102	ENST00000264246.3	37	c.306	CCDS2989.1	3																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.473	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD80	protein_coding	OTTHUMT00000355196.1	C	NM_005191	-		119263509	-1	no_errors	ENST00000264246	ensembl	human	known	74_37	silent	SNP	0.039	T	T	119263509	C	T	119263509	2	4	112	1	0	0	0	0	0	0	0	1	3040	813	29	2		2	CD80	3	119263509	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6217018	119263509	78758921	280	7775											
FBXO40	51725	genome.wustl.edu	37	chr3	121340681	121340681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccctgcaggatcagaaGgtcctcttcagatccttgaa	10	12	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121340681G>A	ENST00000338040.4	+	3	819	c.405G>A	c.(403-405)aaG>aaA	p.K135K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	135					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGATCAGAAGGTCCTCTTCA	0.488																																																	0								ENSG00000163833						62	66	65					3																	121340681		2203	4300	6503	FBXO40	SO:0001819	synonymous_variant	0			-	HGNC	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.405G>A	3.37:g.121340681G>A		Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	B2RAX7|Q32M70|Q9ULM5	Silent	SNP							superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.K135	ENST00000338040.4	37	c.405	CCDS33835.1	3																																																																																			-	NULL		0.488	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	protein_coding	OTTHUMT00000355158.1	G	NM_016298	-		121340681	1	no_errors	ENST00000338040	ensembl	human	known	74_37	silent	SNP	1.000	A	A	121340681	G	A	121340681	2	1	112	1	0	0	0	0	0	0	0	1	5751	991	35	2		2	FBXO40	3	121340681	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2077172	121340681	76681749	281	7776											
GOLGB1	2804	genome.wustl.edu	37	chr3	121414883	121414883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttagtgcttcttttcggGaaataagggcagcttgcagt	11	7	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121414883G>A	ENST00000340645.5	-	13	4597	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1496F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1491					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTTTTCGGGAAATAAGGGC	0.418																																																	0								ENSG00000173230						184	193	190					3																	121414883		2203	4299	6502	GOLGB1	SO:0001583	missense	0			-	HGNC	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4472C>T	3.37:g.121414883G>A	ENSP00000341848:p.Ser1491Phe	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	69	24.18	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.S1491F	ENST00000340645.5	37	c.4472	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949744	0.53186	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.71934	1.55;1.53;-0.61	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000008	D	0.84465	0.5478	M	0.75264	2.295	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	0.999;0.999;0.999;0.999;1.0	D	0.84804	0.0786	10	0.66056	D	0.02	.	18.0345	0.89296	0.0:0.0:1.0:0.0	.	1416;1455;1496;1496;1491	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	F	1491;1496;1455	ENSP00000341848:S1491F;ENSP00000377275:S1496F;ENSP00000418231:S1455F	ENSP00000341848:S1491F	S	-	2	0	GOLGB1	122897573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.865000	0.98341	0.655000	0.94253	TCC	-	NULL		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	G	NM_004487	-		121414883	-1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121414883	G	A	121414883	3	1	112	1	0	0	0	0	1	0	0	0	6567	1174	41	2	5347	2	GOLGB1	3	121414883	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	74202	121414883	76607547	282	7777											
GOLGB1	2804	genome.wustl.edu	37	chr3	121415178	121415178	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcagttcatccagttTaggttgcaattctcttagat	7	7	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121415178T>A	ENST00000340645.5	-	13	4302	c.4177A>T	c.(4177-4179)Aaa>Taa	p.K1393*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.K1398*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1393					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCATCCAGTTTAGGTTGCAAT	0.418																																																	0								ENSG00000173230						160	166	164					3																	121415178		2203	4299	6502	GOLGB1	SO:0001587	stop_gained	0			-	HGNC	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4177A>T	3.37:g.121415178T>A	ENSP00000341848:p.Lys1393*	Somatic	0	110	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	76	30.28	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP							superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.K1393*	ENST00000340645.5	37	c.4177	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	39	7.307978	0.98200	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	5.65	2.91	0.33838	.	0.677862	0.14544	N	0.313074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.602	0.28081	0.0:0.7138:0.1358:0.1504	.	.	.	.	X	1393;1398;1357	.	ENSP00000341848:K1393X	K	-	1	0	GOLGB1	122897868	0.998000	0.40836	0.983000	0.44433	0.337000	0.28794	1.653000	0.37323	0.478000	0.27488	-0.146000	0.13790	AAA	-	superfamily_Prefoldin		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	T	NM_004487	-		121415178	-1	no_errors	ENST00000340645	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	121415178	T	A	121415178	4	1	112	1	0	0	0	0	0	1	0	0	6567	1763	61	5	5642	5	GOLGB1	3	121415178	Nonsense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	295	121415178	76607252	283	7778											
SLC15A2	6565	genome.wustl.edu	37	chr3	121647306	121647306	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggtccccaggaggttttCctacaagtcttgaatctggc	10	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121647306C>T	ENST00000489711.1	+	15	1633	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	SLC15A2_ENST00000295605.2_Silent_p.F384F|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	415					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGGAGGTTTTCCTACAAGTCT	0.448																																																	0								ENSG00000163406						177	182	180					3																	121647306		2203	4300	6503	SLC15A2	SO:0001819	synonymous_variant	0			-	HGNC	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1245C>T	3.37:g.121647306C>T		Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	A8K1A5|B4E2A7	Silent	SNP							pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.F415	ENST00000489711.1	37	c.1245	CCDS3007.1	3																																																																																			-	pfam_POT_fam,tigrfam_Oligopep_transport		0.448	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	protein_coding	OTTHUMT00000355239.1	C	NM_021082	-		121647306	1	no_errors	ENST00000489711	ensembl	human	known	74_37	silent	SNP	0.997	T	T	121647306	C	T	121647306	2	4	112	1	0	0	0	0	0	0	0	1	14407	854	30	2		2	SLC15A2	3	121647306	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	232128	121647306	76375124	284	7779											
ILDR1	286676	genome.wustl.edu	37	chr3	121712771	121712771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgggaggctgattggtGgtctgggtcattggcatctg	18	6	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121712771G>A	ENST00000344209.5	-	7	951	c.825C>T	c.(823-825)acC>acT	p.T275T	ILDR1_ENST00000273691.3_Silent_p.T231T|ILDR1_ENST00000393631.1_Silent_p.T186T|ILDR1_ENST00000462014.1_Silent_p.T243T|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	275					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)		GCTGATTGGTGGTCTGGGTCA	0.542																																																	0								ENSG00000145103						61	59	59					3																	121712771		2203	4300	6503	ILDR1	SO:0001819	synonymous_variant	0			-	HGNC	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.825C>T	3.37:g.121712771G>A		Somatic	0	29	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	Q6ZP61|Q7Z578	Silent	SNP							pfam_LISCH7,smart_Ig_sub	p.T275	ENST00000344209.5	37	c.825	CCDS56271.1	3																																																																																			-	NULL		0.542	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	protein_coding	OTTHUMT00000355666.1	G	NM_175924	-		121712771	-1	no_errors	ENST00000344209	ensembl	human	known	74_37	silent	SNP	0.000	A	A	121712771	G	A	121712771	2	1	112	1	0	0	0	0	0	0	0	1	7711	1335	47	2		2	ILDR1	3	121712771	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	65465	121712771	76309659	285	7780											
CASR	846	genome.wustl.edu	37	chr3	121980842	121980842	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggcggcaccattggattCgctctgaaggctgggcagat	15	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121980842C>T	ENST00000490131.1	+	4	1332	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_ENST00000296154.5_Silent_p.F320F|CASR_ENST00000498619.1_Silent_p.F320F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	320					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577																																																	0								ENSG00000036828						56	50	52					3																	121980842		2203	4300	6503	CASR	SO:0001819	synonymous_variant	0			-	HGNC	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.960C>T	3.37:g.121980842C>T		Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	46	29.23	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.F320	ENST00000490131.1	37	c.960	CCDS3010.1	3																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	protein_coding	OTTHUMT00000355761.1	C	NM_000388	-		121980842	1	no_errors	ENST00000498619	ensembl	human	known	74_37	silent	SNP	0.980	T	T	121980842	C	T	121980842	2	4	112	1	0	0	0	0	0	0	0	1	2684	883	31	1		1	CASR	3	121980842	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	268071	121980842	76041588	286	7781											
ZNF148	7707	genome.wustl.edu	37	chr3	124951507	124951507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctcatcacctgaaaagGgaaatgagtgctgtgaatca	10	7	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:124951507G>A	ENST00000360647.4	-	9	2548	c.2063C>T	c.(2062-2064)cCc>cTc	p.P688L	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P688L|ZNF148_ENST00000492394.1_Missense_Mutation_p.P688L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.P688L	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	688					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ACCTGAAAAGGGAAATGAGTG	0.453																																																	0								ENSG00000163848						178	159	165					3																	124951507		2203	4300	6503	ZNF148	SO:0001583	missense	0			-	HGNC	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2063C>T	3.37:g.124951507G>A	ENSP00000353863:p.Pro688Leu	Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	44	42.11	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P688L	ENST00000360647.4	37	c.2063	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539626	0.27563	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.14	5.14	0.70334	.	0.169871	0.53938	D	0.000049	T	0.28134	0.0694	N	0.08118	0	0.80722	D	1	B	0.30482	0.281	B	0.24974	0.057	T	0.13361	-1.0512	10	0.42905	T	0.14	-5.3736	14.4051	0.67075	0.0:0.1474:0.8526:0.0	.	688	Q9UQR1	ZN148_HUMAN	L	688	ENSP00000353863:P688L;ENSP00000420335:P688L;ENSP00000419322:P688L;ENSP00000420448:P688L	ENSP00000353863:P688L	P	-	2	0	ZNF148	126434197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.311000	0.78958	2.673000	0.90976	0.591000	0.81541	CCC	-	NULL		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	protein_coding	OTTHUMT00000355452.4	G	NM_021964	-		124951507	-1	no_errors	ENST00000360647	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124951507	G	A	124951507	3	1	112	1	0	0	0	0	1	0	0	0	17741	1232	43	2	325	2	ZNF148	3	124951507	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2970665	124951507	73070923	287	7782											
UROC1	131669	genome.wustl.edu	37	chr3	126236446	126236446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcttacctgtttctcCacagggctgaggctgggggt	13	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:126236446C>T	ENST00000290868.2	-	1	170	c.117G>A	c.(115-117)gtG>gtA	p.V39V	UROC1_ENST00000383579.3_Silent_p.V39V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	39					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTGTTTCTCCACAGGGCTGA	0.677																																																	0								ENSG00000159650						28	29	29					3																	126236446		2199	4286	6485	UROC1	SO:0001819	synonymous_variant	0			-	HGNC	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.117G>A	3.37:g.126236446C>T		Somatic	0	171	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	83	44.30	E9PE13|Q14C64|Q68CJ7	Silent	SNP							pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.V39	ENST00000290868.2	37	c.117	CCDS3038.1	3																																																																																			-	NULL		0.677	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	protein_coding	OTTHUMT00000370325.2	C	NM_144639	-		126236446	-1	no_errors	ENST00000290868	ensembl	human	known	74_37	silent	SNP	0.000	T	T	126236446	C	T	126236446	2	4	112	1	0	0	0	0	0	0	0	1	17035	581	21	2		2	UROC1	3	126236446	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1284939	126236446	71785984	288	7783											
KBTBD12	166348	genome.wustl.edu	37	chr3	127642470	127642470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagatgatcttaacatatCcagagaagagagcattctgg	9	7	3	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:127642470C>T	ENST00000405109.1	+	2	1033	c.566C>T	c.(565-567)tCc>tTc	p.S189F	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.S189F			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	189	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTTAACATATCCAGAGAAGAG	0.368																																																	0								ENSG00000187715						55	51	52					3																	127642470		1867	4105	5972	KBTBD12	SO:0001583	missense	0			-	HGNC		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.566C>T	3.37:g.127642470C>T	ENSP00000385957:p.Ser189Phe	Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	69	34.29	B5MCC6|Q6ZRK1	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S189F	ENST00000405109.1	37	c.566	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680492	0.68042	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.69685	-0.42;-0.42	5.75	5.75	0.90469	BTB/Kelch-associated (2);	.	.	.	.	T	0.81607	0.4858	M	0.86420	2.815	0.42518	D	0.992991	P	0.34780	0.468	P	0.47528	0.549	T	0.82731	-0.0312	9	0.72032	D	0.01	.	19.9569	0.97222	0.0:1.0:0.0:0.0	.	189	Q3ZCT8	KBTBC_HUMAN	F	189	ENSP00000385957:S189F;ENSP00000385879:S189F	ENSP00000385957:S189F	S	+	2	0	KBTBD12	129125160	0.987000	0.35691	0.765000	0.31456	0.967000	0.64934	5.712000	0.68407	2.729000	0.93468	0.460000	0.39030	TCC	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.368	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	protein_coding	OTTHUMT00000318682.1	C	NM_207335	-		127642470	1	no_errors	ENST00000405109	ensembl	human	known	74_37	missense	SNP	0.976	T	T	127642470	C	T	127642470	3	4	112	1	0	0	0	0	1	0	0	0	7993	855	30	2	568	2	KBTBD12	3	127642470	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1406024	127642470	70379960	289	7784											
COL6A6	131873	genome.wustl.edu	37	chr3	130292993	130292993	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagtttccactgggaactttCataggtgaaaaagagatatc	10	6	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:130292993C>T	ENST00000358511.6	+	7	3202	c.3171C>T	c.(3169-3171)ttC>ttT	p.F1057F	COL6A6_ENST00000453409.2_Silent_p.F1057F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGGAACTTTCATAGGTGAAA	0.448																																																	0								ENSG00000206384						61	59	60					3																	130292993		1868	4113	5981	COL6A6	SO:0001819	synonymous_variant	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3171C>T	3.37:g.130292993C>T		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.F1057	ENST00000358511.6	37	c.3171	CCDS46911.1	3																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.448	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	C	NM_001102608	-		130292993	1	no_errors	ENST00000358511	ensembl	human	known	74_37	silent	SNP	0.000	T	T	130292993	C	T	130292993	2	4	112	1	0	0	0	0	0	0	0	1	3705	825	29	2		2	COL6A6	3	130292993	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2650523	130292993	67729437	290	7785											
DNAJC13	23317	genome.wustl.edu	37	chr3	132199252	132199252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggattcaaatggaataagaAtccttgtggacttgcttacc	9	7	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:132199252A>G	ENST00000260818.6	+	26	3060	c.2812A>G	c.(2812-2814)Atc>Gtc	p.I938V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	938					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAATAAGAATCCTTGTGGA	0.363																																																	0								ENSG00000138246						109	96	101					3																	132199252		2203	4300	6503	DNAJC13	SO:0001583	missense	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2812A>G	3.37:g.132199252A>G	ENSP00000260818:p.Ile938Val	Somatic	0	124	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	93	37.58	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.I938V	ENST00000260818.6	37	c.2812	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886488	0.17540	.	.	ENSG00000138246	ENST00000260818	D	0.95724	-3.79	5.78	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.056622	0.64402	N	0.000002	D	0.90463	0.7013	L	0.45581	1.43	0.49213	D	0.999762	B	0.02656	0.0	B	0.01281	0.0	T	0.80618	-0.1302	10	0.02654	T	1	.	9.8593	0.41105	0.8627:0.0:0.1373:0.0	.	938	O75165	DJC13_HUMAN	V	938	ENSP00000260818:I938V	ENSP00000260818:I938V	I	+	1	0	DNAJC13	133681942	1.000000	0.71417	0.962000	0.40283	0.663000	0.39108	7.257000	0.78362	0.481000	0.27557	-0.250000	0.11733	ATC	-	superfamily_ARM-type_fold		0.363	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	A	NM_015268	-		132199252	1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	SNP	1.000	G	G	132199252	A	G	132199252	3	3	112	1	0	0	0	0	1	0	0	0	4634	101	4	5	2910	5	DNAJC13	3	132199252	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1906259	132199252	65823178	291	7786											
ACAD11	84129	genome.wustl.edu	37	chr3	132337554	132337554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatcaaggcatagtccacGtggctgagtccgctgacagc	12	12	1	2	rs142318482		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:132337554G>A	ENST00000264990.6	-	11	2309	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000481970.2_Silent_p.H446H|ACAD11_ENST00000355458.3_Silent_p.H446H	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	446					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATAGTCCACGTGGCTGAGTC	0.438													G|||	1	0.000199681	0	0	5008	,	,		14977	0		0.001	False		,,,				2504	0																0								ENSG00000240303	G		0,4406		0,0,2203	82	78	80		1338	-0.4	1	3	dbSNP_134	80	6,8594	6.4+/-24.3	0,6,4294	no	coding-synonymous	ACAD11	NM_032169.4		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		446/781	132337554	6,13000	2203	4300	6503	ACAD11	SO:0001819	synonymous_variant	0			-	HGNC	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1338C>T	3.37:g.132337554G>A		Somatic	1	135	0.74		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	120	39.09	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP							pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.H446	ENST00000264990.6	37	c.1338	CCDS3074.1	3																																																																																			-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom		0.438	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	protein_coding	OTTHUMT00000357279.2	G	NM_032169	rs142318482		132337554	-1	no_errors	ENST00000264990	ensembl	human	known	74_37	silent	SNP	1.000	A	A	132337554	G	A	132337554	2	1	112	1	0	0	0	0	0	0	0	1	109	1136	40	1		1	ACAD11	3	132337554	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	138302	132337554	65684876	292	7787											
TMEM108	66000	genome.wustl.edu	37	chr3	133099899	133099899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagcagggaacatctcCcatgtggccgagggggacaa	16	10	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:133099899C>T	ENST00000321871.6	+	4	1554	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	TMEM108_ENST00000393130.3_Silent_p.S448S|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Silent_p.S448S	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	448						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						GGAACATCTCCCATGTGGCCG	0.617																																																	0								ENSG00000144868						101	89	93					3																	133099899		2203	4300	6503	TMEM108	SO:0001819	synonymous_variant	0			-	HGNC	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.1344C>T	3.37:g.133099899C>T		Somatic	0	24	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP							NULL	p.S448	ENST00000321871.6	37	c.1344	CCDS33858.1	3																																																																																			-	NULL		0.617	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	C	NM_023943	-		133099899	1	no_errors	ENST00000321871	ensembl	human	known	74_37	silent	SNP	0.876	T	T	133099899	C	T	133099899	2	4	112	1	0	0	0	0	0	0	0	1	16031	610	22	2		2	TMEM108	3	133099899	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	762345	133099899	64922531	293	7788											
STAG1	10274	genome.wustl.edu	37	chr3	136240115	136240115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgacaaacccgtcaaaaGggagattactgtgtccatca	9	10	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:136240115G>A	ENST00000383202.2	-	7	872	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	STAG1_ENST00000480733.1_Missense_Mutation_p.L206F|STAG1_ENST00000236698.5_Missense_Mutation_p.L206F|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	206					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCCGTCAAAAGGGAGATTACT	0.358																																																	0								ENSG00000118007						105	94	98					3																	136240115		2203	4300	6503	STAG1	SO:0001583	missense	0			-	HGNC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.616C>T	3.37:g.136240115G>A	ENSP00000372689:p.Leu206Phe	Somatic	0	109	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	71	43.65	O00539|Q6P275	Missense_Mutation	SNP							pfam_STAG,superfamily_ARM-type_fold	p.L206F	ENST00000383202.2	37	c.616	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692387	0.88735	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T;T	0.49139	0.79;0.79;0.8	5.77	5.77	0.91146	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.70903	2.155	0.80722	D	1	D;P;D;D	0.89917	1.0;0.725;1.0;1.0	D;P;D;D	0.85130	0.997;0.781;0.994;0.997	T	0.65483	-0.6157	10	0.36615	T	0.2	.	19.9828	0.97334	0.0:0.0:1.0:0.0	.	223;206;206;206	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	F	206	ENSP00000372689:L206F;ENSP00000236698:L206F;ENSP00000420789:L206F	ENSP00000236698:L206F	L	-	1	0	STAG1	137722805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.062000	0.89475	2.718000	0.92993	0.460000	0.39030	CTT	-	pfam_STAG,superfamily_ARM-type_fold		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	G	NM_005862	-		136240115	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136240115	G	A	136240115	3	1	112	1	0	0	0	0	1	0	0	0	15249	1000	35	2	3272	2	STAG1	3	136240115	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3140216	136240115	61782315	294	7789											
DBR1	51163	genome.wustl.edu	37	chr3	137882228	137882228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctggcatattccacaGgcgcccagtcacattaataa	6	11	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:137882228G>A	ENST00000260803.4	-	7	1057	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	DBR1_ENST00000505015.2_Silent_p.L68L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	302					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATATTCCACAGGCGCCCAGTC	0.413																																																	0								ENSG00000138231						103	97	99					3																	137882228		2203	4300	6503	DBR1	SO:0001819	synonymous_variant	0			-	HGNC	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.904C>T	3.37:g.137882228G>A		Somatic	0	106	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	86	36.30	Q96GH0|Q9NXQ6	Silent	SNP							pfam_DBR1_C,pfam_PEstase_dom	p.L302	ENST00000260803.4	37	c.904	CCDS33863.1	3																																																																																			-	pfam_DBR1_C		0.413	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	protein_coding	OTTHUMT00000357585.1	G		-		137882228	-1	no_errors	ENST00000260803	ensembl	human	known	74_37	silent	SNP	0.000	A	A	137882228	G	A	137882228	2	1	112	1	0	0	0	0	0	0	0	1	4259	991	35	2		2	DBR1	3	137882228	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1642113	137882228	60140202	295	7790											
ESYT3	83850	genome.wustl.edu	37	chr3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgaaccccacctggaacGaagtgtttgaggtaagggtc	12	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:138183346G>A	ENST00000389567.4	+	9	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	359	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582																																																	0								ENSG00000158220						98	80	86					3																	138183346		2203	4300	6503	ESYT3	SO:0001583	missense	0			-	HGNC	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1075G>A	3.37:g.138183346G>A	ENSP00000374218:p.Glu359Lys	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.E359K	ENST00000389567.4	37	c.1075	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958429	0.92726	.	.	ENSG00000158220	ENST00000389567	T	0.77750	-1.12	4.79	4.79	0.61399	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058163	0.64402	D	0.000002	D	0.89494	0.6731	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91415	0.5154	10	0.87932	D	0	-14.1733	15.3685	0.74541	0.0:0.0:1.0:0.0	.	359	A0FGR9	ESYT3_HUMAN	K	359	ENSP00000374218:E359K	ENSP00000374218:E359K	E	+	1	0	ESYT3	139666036	1.000000	0.71417	0.931000	0.37212	0.893000	0.52053	8.650000	0.91073	2.492000	0.84095	0.455000	0.32223	GAA	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	protein_coding	OTTHUMT00000303993.1	G	NM_031913	-		138183346	1	no_errors	ENST00000389567	ensembl	human	known	74_37	missense	SNP	0.998	A	A	138183346	G	A	138183346	3	1	112	1	0	0	0	0	1	0	0	0	5268	1059	37	1	1109	1	ESYT3	3	138183346	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	301118	138183346	59839084	296	7791											
CLSTN2	64084	genome.wustl.edu	37	chr3	140284994	140284994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtggctctgacgacagcGaagaggaggaggaggaggaa	19	6	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:140284994G>A	ENST00000458420.3	+	17	2957	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	923	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGACGACAGCGAAGAGGAGGA	0.582										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0								ENSG00000158258						90	85	87					3																	140284994		2203	4300	6503	CLSTN2	SO:0001583	missense	0			-	HGNC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2767G>A	3.37:g.140284994G>A	ENSP00000402460:p.Glu923Lys	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	37	35.09	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP							pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E923K	ENST00000458420.3	37	c.2767	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524479	0.64747	.	.	ENSG00000158258	ENST00000458420	T	0.29142	1.58	5.59	5.59	0.84812	.	0.617550	0.18103	N	0.151603	T	0.32941	0.0846	M	0.62723	1.935	0.39929	D	0.974267	B	0.28783	0.222	B	0.21151	0.033	T	0.09952	-1.0651	9	.	.	.	-12.0896	17.0782	0.86591	0.0:0.0:1.0:0.0	.	923	Q9H4D0	CSTN2_HUMAN	K	923	ENSP00000402460:E923K	.	E	+	1	0	CLSTN2	141767684	1.000000	0.71417	0.790000	0.31976	0.667000	0.39255	9.062000	0.93920	2.619000	0.88677	0.655000	0.94253	GAA	-	NULL		0.582	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	protein_coding	OTTHUMT00000359393.3	G	NM_022131	-		140284994	1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140284994	G	A	140284994	3	1	112	1	0	0	0	0	1	0	0	0	3564	1059	37	1	2833	1	CLSTN2	3	140284994	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2101648	140284994	57737436	297	7792											
PLS1	5357	genome.wustl.edu	37	chr3	142403136	142403136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaggaactagaggagCtgatgaagctttctcccgag	14	7	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:142403136C>T	ENST00000337777.3	+	8	1000	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	PLS1_ENST00000497002.1_Silent_p.L263L|PLS1_ENST00000457734.2_Silent_p.L263L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	263	Actin-binding 1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACTAGAGGAGCTGATGAAGCT	0.443																																																	0								ENSG00000120756						113	106	108					3																	142403136		2203	4300	6503	PLS1	SO:0001819	synonymous_variant	0			-	HGNC	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.787C>T	3.37:g.142403136C>T		Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	56	24.32	A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP							pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.L263	ENST00000337777.3	37	c.787	CCDS3125.1	3																																																																																			-	superfamily_CH-domain		0.443	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	protein_coding	OTTHUMT00000354435.1	C	NM_002670	-		142403136	1	no_errors	ENST00000337777	ensembl	human	known	74_37	silent	SNP	1.000	T	T	142403136	C	T	142403136	2	4	112	1	0	0	0	0	0	0	0	1	12109	796	28	2		2	PLS1	3	142403136	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2118142	142403136	55619294	298	7793											
SLC9A9	285195	genome.wustl.edu	37	chr3	142985705	142985705	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcagggtgaggaggcttgctCctggtaatttatggctagtt	15	6	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:142985705C>A	ENST00000316549.6	-	16	1985	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	593					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GAGGCTTGCTCCTGGTAATTT	0.493																																																	0								ENSG00000181804						149	142	144					3																	142985705		2203	4300	6503	SLC9A9	SO:0001587	stop_gained	0			-	HGNC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1777G>T	3.37:g.142985705C>A	ENSP00000320246:p.Glu593*	Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	49	31.94	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP							pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E593*	ENST00000316549.6	37	c.1777	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.290319	0.97444	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.7	5.7	0.88788	.	0.143644	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.859	0.35245	0.1519:0.7674:0.0:0.0806	.	.	.	.	X	593	.	ENSP00000320246:E593X	E	-	1	0	SLC9A9	144468395	0.986000	0.35501	1.000000	0.80357	0.620000	0.37586	1.573000	0.36472	2.683000	0.91414	0.655000	0.94253	GAG	-	NULL		0.493	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	protein_coding	OTTHUMT00000354994.1	C	NM_173653	-		142985705	-1	no_errors	ENST00000316549	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	142985705	C	A	142985705	4	1	112	1	0	0	0	0	0	1	0	0	14729	864	30	3	164	3	SLC9A9	3	142985705	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	582569	142985705	55036725	299	7794											
IGSF10	285313	genome.wustl.edu	37	chr3	151171541	151171541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaagttttcggacttTattatagctcatttttaaga	6	5	2	2	rs370577610		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:151171541T>G	ENST00000282466.3	-	3	345	c.346A>C	c.(346-348)Aaa>Caa	p.K116Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	116					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCGGACTTTATTATAGCTC	0.323																																																	0								ENSG00000152580						73	81	78					3																	151171541		2148	4286	6434	IGSF10	SO:0001583	missense	0			-	HGNC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.346A>C	3.37:g.151171541T>G	ENSP00000282466:p.Lys116Gln	Somatic	0	120	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	83	30.83	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K116Q	ENST00000282466.3	37	c.346	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544004	0.86022	.	.	ENSG00000152580	ENST00000282466	T	0.58358	0.34	5.53	5.53	0.82687	.	0.000000	0.50627	D	0.000105	T	0.62380	0.2423	L	0.28458	0.855	0.45366	D	0.998359	D	0.89917	1.0	D	0.80764	0.994	T	0.66642	-0.5872	10	0.87932	D	0	.	15.6808	0.77367	0.0:0.0:0.0:1.0	.	116	Q6WRI0	IGS10_HUMAN	Q	116	ENSP00000282466:K116Q	ENSP00000282466:K116Q	K	-	1	0	IGSF10	152654231	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.759000	0.62227	2.104000	0.64026	0.528000	0.53228	AAA	-	smart_Leu-rich_rpt_typical-subtyp		0.323	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	protein_coding	OTTHUMT00000357782.1	T	NM_178822	-		151171541	-1	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	SNP	1.000	G	G	151171541	T	G	151171541	3	3	112	1	0	0	0	0	1	0	0	0	7599	1763	61	5	7589	5	IGSF10	3	151171541	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	8185836	151171541	46850889	300	7795											
OTOL1	131149	genome.wustl.edu	37	chr3	161221551	161221551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttcaagtccagagaaactCtctatggtcaggaaatagac	9	8	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:161221551C>T	ENST00000327928.4	+	4	1255	c.1255C>T	c.(1255-1257)Ctc>Ttc	p.L419F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	419	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAGAGAAACTCTCTATGGTCA	0.478																																																	0								ENSG00000182447						56	52	53					3																	161221551		1927	4129	6056	OTOL1	SO:0001583	missense	0			-	HGNC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1255C>T	3.37:g.161221551C>T	ENSP00000330808:p.Leu419Phe	Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	54	41.94		Missense_Mutation	SNP							pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.L419F	ENST00000327928.4	37	c.1255	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165252	0.21538	.	.	ENSG00000182447	ENST00000327928	T	0.74947	-0.89	5.24	3.42	0.39159	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	L	0.39467	1.215	0.09310	N	0.999991	D	0.89917	1.0	D	0.77557	0.99	T	0.65911	-0.6053	10	0.40728	T	0.16	.	8.3927	0.32537	0.0:0.6208:0.3002:0.079	.	419	A6NHN0	OTOL1_HUMAN	F	419	ENSP00000330808:L419F	ENSP00000330808:L419F	L	+	1	0	OTOL1	162704245	0.260000	0.24053	0.163000	0.22734	0.421000	0.31385	0.907000	0.28531	0.573000	0.29400	-0.216000	0.12614	CTC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.478	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	protein_coding	OTTHUMT00000353184.1	C	NM_001080440	-		161221551	1	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	SNP	0.201	T	T	161221551	C	T	161221551	3	4	112	1	0	0	0	0	1	0	0	0	11306	913	32	2	1269	2	OTOL1	3	161221551	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10050010	161221551	36800879	301	7796											
SI	6476	genome.wustl.edu	37	chr3	164739172	164739172	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttttggggatcataaatCtattgcagataagtagtaaa	8	4	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:164739172C>T	ENST00000264382.3	-	27	3162		c.e27-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						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)	GATCATAAATCTATTGCAGAT	0.318										HNSCC(35;0.089)																																							0								ENSG00000090402						173	175	175					3																	164739172		2203	4300	6503	SI	SO:0001630	splice_region_variant	0			-	HGNC	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.3100-1G>A	3.37:g.164739172C>T		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	76	20.83	A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP							-	e26-1	ENST00000264382.3	37	c.3100-1	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553350	0.45487	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5692	0.87930	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166221866	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	6.739000	0.74827	2.378000	0.81104	0.585000	0.79938	.	-	-		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	C	NM_001041	-	Intron	164739172	-1	no_errors	ENST00000264382	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	164739172	C	T	164739172	5	4	112	1	0	0	0	0	0	0	1	0	14305	927	32	2	2472	2	SI	3	164739172	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3517621	164739172	33283258	302	7797											
MECOM	2122	genome.wustl.edu	37	chr3	168806964	168806964	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccacttttatattcttcctCtttatacctaaaatgaacca	1	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:168806964C>T	ENST00000464456.1	-	14	4018	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	MECOM_ENST00000472280.1_Missense_Mutation_p.E950K|MECOM_ENST00000468789.1_Missense_Mutation_p.E949K|MECOM_ENST00000392736.3_Missense_Mutation_p.E949K|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128K|MECOM_ENST00000433243.2_Missense_Mutation_p.E950K|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014K|MECOM_ENST00000460814.1_Missense_Mutation_p.E940K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TATTCTTCCTCTTTATACCTA	0.303																																																	0								ENSG00000085276						66	65	65					3																	168806964		2203	4300	6503	MECOM	SO:0001583	missense	0			-	HGNC	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2818G>A	3.37:g.168806964C>T	ENSP00000419770:p.Glu940Lys	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	32	46.67	Q13466|Q6FH90	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1128K	ENST00000464456.1	37	c.3382	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705179	0.89018	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05996	3.41;3.41;3.37;3.51;3.37;3.41;3.36;3.51	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000006	T	0.14184	0.0343	L	0.43152	1.355	0.54753	D	0.999988	B;P;B;P;D	0.59357	0.11;0.949;0.031;0.949;0.985	B;P;B;P;P	0.51615	0.018;0.675;0.005;0.675;0.628	T	0.00121	-1.2028	10	0.54805	T	0.06	-16.6973	20.0572	0.97657	0.0:1.0:0.0:0.0	.	1137;941;1128;1014;949	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	1014;949;940;950;1128;949;940;950	ENSP00000264674:E1014K;ENSP00000376493:E949K;ENSP00000419770:E940K;ENSP00000420048:E950K;ENSP00000417899:E1128K;ENSP00000419995:E949K;ENSP00000420466:E940K;ENSP00000394302:E950K	ENSP00000264674:E1014K	E	-	1	0	MECOM	170289658	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.097000	0.64542	2.826000	0.97356	0.655000	0.94253	GAG	-	NULL		0.303	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	protein_coding	OTTHUMT00000351519.1	C	NM_005241, NM_004991	-		168806964	-1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	168806964	C	T	168806964	3	4	112	1	0	0	0	0	1	0	0	0	9424	922	32	2	318	2	MECOM	3	168806964	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4067792	168806964	29215466	303	7798											
MECOM	2122	genome.wustl.edu	37	chr3	168838988	168838988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctgaaggttgctagggtCcgtgaaaacctgctaggaaa	13	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:168838988C>T	ENST00000464456.1	-	6	1624	c.424G>A	c.(424-426)Gac>Aac	p.D142N	MECOM_ENST00000472280.1_Missense_Mutation_p.D143N|MECOM_ENST00000468789.1_Missense_Mutation_p.D142N|MECOM_ENST00000392736.3_Missense_Mutation_p.D142N|MECOM_ENST00000494292.1_Missense_Mutation_p.D330N|MECOM_ENST00000433243.2_Missense_Mutation_p.D143N|MECOM_ENST00000264674.3_Missense_Mutation_p.D207N|MECOM_ENST00000460814.1_Missense_Mutation_p.D142N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCTAGGGTCCGTGAAAACC	0.498																																																	0								ENSG00000085276						62	62	62					3																	168838988		2203	4300	6503	MECOM	SO:0001583	missense	0			-	HGNC	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.424G>A	3.37:g.168838988C>T	ENSP00000419770:p.Asp142Asn	Somatic	0	15	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	Q13466|Q6FH90	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D330N	ENST00000464456.1	37	c.988	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.751892	0.96890	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.51325	2.97;0.71;0.71;2.47;0.71;0.71;0.71;2.47;0.71	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255067	0.29106	N	0.013132	T	0.53594	0.1806	N	0.10837	0.055	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.884;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.998;0.822;0.999;0.998;0.999	T	0.61476	-0.7055	10	0.54805	T	0.06	-14.2453	19.9574	0.97228	0.0:1.0:0.0:0.0	.	330;143;330;207;142	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	N	207;142;142;143;330;142;142;143;117	ENSP00000264674:D207N;ENSP00000376493:D142N;ENSP00000419770:D142N;ENSP00000420048:D143N;ENSP00000417899:D330N;ENSP00000419995:D142N;ENSP00000420466:D142N;ENSP00000394302:D143N;ENSP00000417506:D117N	ENSP00000264674:D207N	D	-	1	0	MECOM	170321682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.715000	0.92844	0.561000	0.74099	GAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	protein_coding	OTTHUMT00000351519.1	C	NM_005241, NM_004991	-		168838988	-1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	168838988	C	T	168838988	3	4	112	1	0	0	0	0	1	0	0	0	9424	855	30	2	2775	2	MECOM	3	168838988	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	32024	168838988	29183442	304	7799											
TNIK	23043	genome.wustl.edu	37	chr3	170786725	170786725	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccaaaaataacctttaatCtttgaccttcttctaccgtg	3	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:170786725C>A	ENST00000436636.2	-	30	3955	c.3611G>T	c.(3610-3612)aGa>aTa	p.R1204I	TNIK_ENST00000284483.8_Missense_Mutation_p.R1196I|TNIK_ENST00000470834.1_Missense_Mutation_p.R1167I|TNIK_ENST00000357327.5_Missense_Mutation_p.R1175I|TNIK_ENST00000538048.1_Missense_Mutation_p.R1156I|TNIK_ENST00000341852.6_Missense_Mutation_p.R1120I|TNIK_ENST00000460047.1_Missense_Mutation_p.R1141I|TNIK_ENST00000488470.1_Missense_Mutation_p.R1149I|TNIK_ENST00000369326.5_Missense_Mutation_p.R1182I|TNIK_ENST00000475336.1_Missense_Mutation_p.R1112I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1204	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AACCTTTAATCTTTGACCTTC	0.383																																																	0								ENSG00000154310						152	148	149					3																	170786725		1853	4091	5944	TNIK	SO:0001583	missense	0			-	HGNC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3611G>T	3.37:g.170786725C>A	ENSP00000399511:p.Arg1204Ile	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	102	17.07	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R1204I	ENST00000436636.2	37	c.3611	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.173424	0.94807	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.994;0.999;0.998;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.78314	0.991;0.983;0.975;0.988;0.983;0.988;0.975;0.988;0.991	T	0.01024	-1.1477	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1156;1112;1167;1141;1120;1196;1175;1149;1204	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	I	1204;1182;1156;1120;1196;1112;1175;1141;1149;1167	ENSP00000399511:R1204I;ENSP00000358332:R1182I;ENSP00000443278:R1156I;ENSP00000345352:R1120I;ENSP00000284483:R1196I;ENSP00000418156:R1112I;ENSP00000349880:R1175I;ENSP00000418916:R1141I;ENSP00000418378:R1149I;ENSP00000419990:R1167I	ENSP00000284483:R1196I	R	-	2	0	TNIK	172269419	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	AGA	-	pfam_Citron,smart_Citron		0.383	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	protein_coding	OTTHUMT00000352973.2	C	XM_039796	-		170786725	-1	no_errors	ENST00000436636	ensembl	human	known	74_37	missense	SNP	1.000	A	A	170786725	C	A	170786725	3	1	112	1	0	0	0	0	1	0	0	0	16320	913	32	3	487	3	TNIK	3	170786725	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1947737	170786725	27235705	305	7800											
KCNMB2	10242	genome.wustl.edu	37	chr3	178543388	178543388	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacctcagaaatatttaccaGaaaatcagggaccatgacct	6	10	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:178543388G>A	ENST00000432997.1	+	3	421	c.69G>A	c.(67-69)caG>caA	p.Q23Q	KCNMB2_ENST00000420517.2_Silent_p.Q23Q|KCNMB2_ENST00000358316.3_Silent_p.Q23Q|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.Q23Q|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	0					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	ATATTTACCAGAAAATCAGGG	0.453																																																	0								ENSG00000197584						93	91	92					3																	178543388		2203	4300	6503	KCNMB2	SO:0001819	synonymous_variant	0			-	HGNC	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.69G>A	3.37:g.178543388G>A		Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	58	42.57	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP							pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.Q23	ENST00000432997.1	37	c.69	CCDS3223.1	3																																																																																			-	pfam_KCNMB2_ball_chain_dom		0.453	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	protein_coding	OTTHUMT00000348251.1	G	NM_181361	-		178543388	1	no_errors	ENST00000358316	ensembl	human	known	74_37	silent	SNP	1.000	A	A	178543388	G	A	178543388	2	1	112	1	0	0	0	0	0	0	0	1	8077	933	33	2		2	KCNMB2	3	178543388	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7756663	178543388	19479042	306	7801											
KNG1	3827	genome.wustl.edu	37	chr3	186450413	186450413	+	Frame_Shift_Del	DEL	A	A	-													caaagcttaatgcagagaatAacgcaactttctatttcaag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:186450413delA	ENST00000265023.4	+	7	1092	c.880delA	c.(880-882)aacfs	p.N294fs	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Frame_Shift_Del_p.N258fs|KNG1_ENST00000287611.2_Frame_Shift_Del_p.N294fs|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	294	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGCAGAGAATAACGCAACTTT	0.418																																																	0								ENSG00000113889						120	118	119					3																	186450413		2203	4300	6503	KNG1	SO:0001589	frameshift_variant	0				HGNC		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.880delA	3.37:g.186450413delA	ENSP00000265023:p.Asn294fs	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	68	22.73	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Frame_Shift_Del	DEL							pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.N294fs	ENST00000265023.4	37	c.880	CCDS43183.1	3																																																																																			-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.418	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	protein_coding	OTTHUMT00000317738.1	A	NM_001102416			186450413	1	no_errors	ENST00000265023	ensembl	human	known	74_37	frame_shift_del	DEL	0.017	-	-	186450413	A	-	186450413	7	5	112	1	0	1	0	1	0	0	0	0	8429	362	13	0	906	0	KNG1	3	186450413	Frame_Shift_Del	DEL	A	TCGA-DX-AB2E-01A-11D-A38Z-09	7907025	186450413	11572017	307	7802											
BCL6	604	genome.wustl.edu	37	chr3	187443403	187443403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccccacagatgttgcaacGatagggtttctcacctatta	9	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:187443403G>A	ENST00000406870.2	-	8	2089	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R519C|BCL6_ENST00000232014.4_Missense_Mutation_p.R575C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	575					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATGTTGCAACGATAGGGTTTC	0.493			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0								ENSG00000113916						101	109	106					3																	187443403		2203	4300	6503	BCL6	SO:0001583	missense	0			-	HGNC		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1723C>T	3.37:g.187443403G>A	ENSP00000384371:p.Arg575Cys	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	58	30.95	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R575C	ENST00000406870.2	37	c.1723	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757916	0.69648	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.36157	1.27;1.27;3.11	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099111	0.64402	D	0.000002	T	0.58991	0.2161	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.80764	0.994;0.549	T	0.59558	-0.7432	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	519;575	B8PSA7;P41182	.;BCL6_HUMAN	C	575;575;519	ENSP00000384371:R575C;ENSP00000232014:R575C;ENSP00000413122:R519C	ENSP00000232014:R575C	R	-	1	0	BCL6	188926097	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.514000	0.73746	2.679000	0.91253	0.655000	0.94253	CGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.493	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	protein_coding	OTTHUMT00000344202.1	G	NM_138931	-		187443403	-1	no_errors	ENST00000232014	ensembl	human	known	74_37	missense	SNP	1.000	A	A	187443403	G	A	187443403	3	1	112	1	0	0	0	0	1	0	0	0	1376	1058	37	1	409	1	BCL6	3	187443403	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	992990	187443403	10579027	308	7803											
TP63	8626	genome.wustl.edu	37	chr3	189587175	189587175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaacgaagatccccagatGatgaactgttatacttacca	7	9	0	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:189587175G>A	ENST00000264731.3	+	9	1281	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	TP63_ENST00000354600.5_Missense_Mutation_p.D304N|TP63_ENST00000392460.3_Missense_Mutation_p.D398N|TP63_ENST00000437221.1_Missense_Mutation_p.D304N|TP63_ENST00000392461.3_Missense_Mutation_p.D304N|TP63_ENST00000456148.1_Missense_Mutation_p.D300N|TP63_ENST00000449992.1_Missense_Mutation_p.D219N|TP63_ENST00000320472.5_Missense_Mutation_p.D398N|TP63_ENST00000392463.2_Missense_Mutation_p.D304N|TP63_ENST00000440651.2_Missense_Mutation_p.D394N|TP63_ENST00000418709.2_Missense_Mutation_p.D398N|TP63_ENST00000382063.4_Missense_Mutation_p.D313N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	398	Oligomerization.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCCCCAGATGATGAACTGTT	0.418										HNSCC(45;0.13)																																							0								ENSG00000073282						156	131	139					3																	189587175		2203	4300	6503	TP63	SO:0001583	missense	0			-	HGNC	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1192G>A	3.37:g.189587175G>A	ENSP00000264731:p.Asp398Asn	Somatic	0	142	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	88	40.14	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.D398N	ENST00000264731.3	37	c.1192	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157676	0.78114	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	5.85	5.85	0.93711	p53, tetramerisation domain (3);	0.049215	0.85682	D	0.000000	D	0.92551	0.7634	L	0.49350	1.555	0.80722	D	1	P;P;P;P;P;P;P;P;P;P	0.50528	0.837;0.837;0.696;0.696;0.696;0.696;0.607;0.936;0.741;0.837	P;P;P;B;B;P;P;P;P;P	0.51415	0.535;0.535;0.535;0.363;0.363;0.535;0.497;0.669;0.665;0.535	D	0.91329	0.5088	9	.	.	.	-14.5846	17.3209	0.87235	0.0:0.0:1.0:0.0	.	219;398;394;304;304;304;304;398;398;398	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	N	398;398;398;398;394;313;304;304;304;304;219;300	ENSP00000264731:D398N;ENSP00000407144:D398N;ENSP00000317510:D398N;ENSP00000376253:D398N;ENSP00000394337:D394N;ENSP00000371495:D313N;ENSP00000346614:D304N;ENSP00000392488:D304N;ENSP00000376256:D304N;ENSP00000376254:D304N;ENSP00000387839:D219N;ENSP00000389485:D300N	.	D	+	1	0	TP63	191069869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.766000	0.95052	0.655000	0.94253	GAT	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn		0.418	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	protein_coding	OTTHUMT00000343865.1	G	NM_003722	-		189587175	1	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	SNP	1.000	A	A	189587175	G	A	189587175	3	1	112	1	0	0	0	0	1	0	0	0	16399	1290	45	2	1272	2	TP63	3	189587175	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2143772	189587175	8435255	309	7804											
ATP13A4	84239	genome.wustl.edu	37	chr3	193182748	193182748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcaaagcagacaaggTttaactgtccacatacgttg	8	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:193182748T>C	ENST00000342695.4	-	12	1764	c.1442A>G	c.(1441-1443)aAc>aGc	p.N481S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.N462S|ATP13A4_ENST00000295548.3_Missense_Mutation_p.N481S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	481						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAGACAAGGTTTAACTGTCC	0.438																																																	0								ENSG00000127249						167	153	158					3																	193182748		2203	4300	6503	ATP13A4	SO:0001583	missense	0			-	HGNC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1442A>G	3.37:g.193182748T>C	ENSP00000339182:p.Asn481Ser	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	46	31.34	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.N481S	ENST00000342695.4	37	c.1442	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567634	0.65651	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.75704	-0.96;-0.96;-0.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	L	0.43646	1.37	0.49915	D	0.999838	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.83641	0.0150	10	0.72032	D	0.01	-32.6497	16.0034	0.80327	0.0:0.0:0.0:1.0	.	481;481;481	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	S	462;481;481	ENSP00000376238:N462S;ENSP00000339182:N481S;ENSP00000295548:N481S	ENSP00000295548:N481S	N	-	2	0	ATP13A4	194665442	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	6.103000	0.71492	2.371000	0.80710	0.533000	0.62120	AAC	-	pfam_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.438	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	protein_coding	OTTHUMT00000157244.4	T	NM_032279	-		193182748	-1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	SNP	1.000	C	C	193182748	T	C	193182748	3	2	112	1	0	0	0	0	1	0	0	0	1126	1725	60	5	2224	5	ATP13A4	3	193182748	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	3595573	193182748	4839682	310	7805											
CPN2	1370	genome.wustl.edu	37	chr3	194062012	194062012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctccgggctgccctttCctgcacagccagatcccagc	10	18	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:194062012C>T	ENST00000323830.3	-	2	1509	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CPN2_ENST00000429275.1_Missense_Mutation_p.E474K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	474					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	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;4.65e-05)		GCTGCCCTTTCCTGCACAGCC	0.667																																																	0								ENSG00000178772						55	58	57					3																	194062012		2203	4300	6503	CPN2	SO:0001583	missense	0			-	HGNC	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1420G>A	3.37:g.194062012C>T	ENSP00000319464:p.Glu474Lys	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E474K	ENST00000323830.3	37	c.1420	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824553	0.16678	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.51817	0.69;0.69	5.56	4.69	0.59074	.	0.624357	0.13272	N	0.400478	T	0.34337	0.0894	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.16305	-1.0407	10	0.22706	T	0.39	.	12.5925	0.56451	0.0:0.9224:0.0:0.0776	.	474	P22792	CPN2_HUMAN	K	474	ENSP00000319464:E474K;ENSP00000402232:E474K	ENSP00000319464:E474K	E	-	1	0	CPN2	195543707	0.002000	0.14202	0.004000	0.12327	0.024000	0.10985	1.561000	0.36342	1.491000	0.48482	0.655000	0.94253	GAA	-	NULL		0.667	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	protein_coding	OTTHUMT00000342856.2	C	NM_001080513	-		194062012	-1	no_errors	ENST00000323830	ensembl	human	known	74_37	missense	SNP	0.083	T	T	194062012	C	T	194062012	3	4	112	1	0	0	0	0	1	0	0	0	3812	864	30	2	221	2	CPN2	3	194062012	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	879264	194062012	3960418	311	7806											
TMEM44	93109	genome.wustl.edu	37	chr3	194337953	194337953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccagccagggccgacaGgagccgggtccacaggtgga	18	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:194337953G>A	ENST00000392432.2	-	7	1004	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	TMEM44_ENST00000473092.1_Silent_p.L220L|TMEM44_ENST00000381975.3_Silent_p.L220L|TMEM44_ENST00000273580.7_Silent_p.L220L|TMEM44_ENST00000347147.4_Silent_p.L220L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	267						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		AGGGCCGACAGGAGCCGGGTC	0.662																																																	0								ENSG00000145014						17	16	17					3																	194337953		2127	4158	6285	TMEM44	SO:0001819	synonymous_variant	0			-	HGNC	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.799C>T	3.37:g.194337953G>A		Somatic	0	127	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	74	35.65	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP							NULL	p.L267	ENST00000392432.2	37	c.799	CCDS54699.1	3																																																																																			-	NULL		0.662	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	protein_coding	OTTHUMT00000342750.1	G	NM_138399	-		194337953	-1	no_errors	ENST00000392432	ensembl	human	known	74_37	silent	SNP	0.022	A	A	194337953	G	A	194337953	2	1	112	1	0	0	0	0	0	0	0	1	16175	991	35	2		2	TMEM44	3	194337953	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	275941	194337953	3684477	312	7807											
PDE6B	5158	genome.wustl.edu	37	chr4	651206	651206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgacaagatgaacaagctgGagaaccgcaaggacatcgca	11	10	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:651206G>A	ENST00000496514.1	+	10	1345	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	PDE6B_ENST00000255622.6_Missense_Mutation_p.E442K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E163K|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	442					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)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GAACAAGCTGGAGAACCGCAA	0.597																																					GBM(71;463 1194 9848 25922 46834)												0								ENSG00000133256						210	127	155					4																	651206		2203	4300	6503	PDE6B	SO:0001583	missense	0			-	HGNC	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1324G>A	4.37:g.651206G>A	ENSP00000420295:p.Glu442Lys	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	14	66.67	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E442K	ENST00000496514.1	37	c.1324	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881120	0.91740	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.69561	-0.41;-0.41;-0.41	4.85	4.85	0.62838	.	0.163442	0.53938	D	0.000058	T	0.80722	0.4677	M	0.88105	2.93	0.80722	D	1	P;P	0.48998	0.866;0.918	P;P	0.55303	0.598;0.773	T	0.82835	-0.0261	10	0.40728	T	0.16	.	15.4521	0.75282	0.0:0.0:1.0:0.0	.	442;442	P35913;P35913-2	PDE6B_HUMAN;.	K	442;442;163	ENSP00000255622:E442K;ENSP00000420295:E442K;ENSP00000406334:E163K	ENSP00000255622:E442K	E	+	1	0	PDE6B	641206	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.191000	0.94940	2.224000	0.72417	0.447000	0.29281	GAG	-	NULL		0.597	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	protein_coding	OTTHUMT00000358109.1	G	NM_000283	-		651206	1	no_errors	ENST00000496514	ensembl	human	known	74_37	missense	SNP	1.000	A	A	651206	G	A	651206	3	1	112	1	0	0	0	0	1	0	0	0	11648	1175	41	2	1362	2	PDE6B	4	651206	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		651206	190503070	313	7808											
IDUA	3425	genome.wustl.edu	37	chr4	998110	998110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactgggcccgaccaggcCccttctcggaccctgtgccg	11	18	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:998110C>T	ENST00000247933.4	+	14	1979	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	IDUA_ENST00000514224.1_Missense_Mutation_p.P499S|IDUA_ENST00000453894.1_Missense_Mutation_p.P653S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	631					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGACCAGGCCCCTTCTCGGA	0.652																																																	0								ENSG00000127415						53	61	58					4																	998110		2203	4300	6503	IDUA	SO:0001583	missense	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1891C>T	4.37:g.998110C>T	ENSP00000247933:p.Pro631Ser	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	19	62.75	B3KWK6	Missense_Mutation	SNP							pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.P653S	ENST00000247933.4	37	c.1957	CCDS3343.1	4	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810406	0.50421	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	T;T;T	0.78481	-1.18;-1.18;-1.18	5.55	4.7	0.59300	.	0.398535	0.25842	N	0.027946	T	0.72342	0.3448	M	0.69823	2.125	0.30000	N	0.816086	P;B	0.34864	0.473;0.38	B;B	0.30105	0.111;0.05	T	0.69793	-0.5049	10	0.27082	T	0.32	-42.9246	11.4699	0.50261	0.0:0.9134:0.0:0.0866	.	653;631	B3KWK6;P35475	.;IDUA_HUMAN	S	631;653;499	ENSP00000247933:P631S;ENSP00000396458:P653S;ENSP00000425081:P499S	ENSP00000247933:P631S	P	+	1	0	IDUA	988110	0.305000	0.24481	1.000000	0.80357	0.931000	0.56810	1.360000	0.34125	2.641000	0.89580	0.555000	0.69702	CCC	-	superfamily_Fibronectin_type3		0.652	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	C	NM_000203	-		998110	1	no_errors	ENST00000453894	ensembl	human	known	74_37	missense	SNP	1.000	T	T	998110	C	T	998110	3	4	112	1	0	0	0	0	1	0	0	0	7506	623	22	2	1945	2	IDUA	4	998110	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	346904	998110	190156166	314	7809											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23803471	23803471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagcaaaagcatcacaGgtataacggtaggtaatgaa	11	6	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:23803471G>A	ENST00000264867.2	-	12	2294	c.2175C>T	c.(2173-2175)acC>acT	p.T725T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	725	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAGCATCACAGGTATAACGGT	0.403																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0								ENSG00000109819						96	86	89					4																	23803471		2203	4300	6503	PPARGC1A	SO:0001819	synonymous_variant	0			-	HGNC	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2175C>T	4.37:g.23803471G>A		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T725	ENST00000264867.2	37	c.2175	CCDS3429.1	4																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.403	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	protein_coding	OTTHUMT00000214976.1	G	NM_013261	-		23803471	-1	no_errors	ENST00000264867	ensembl	human	known	74_37	silent	SNP	1.000	A	A	23803471	G	A	23803471	2	1	112	1	0	0	0	0	0	0	0	1	12302	987	35	2		2	PPARGC1A	4	23803471	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	22805361	23803471	167350805	315	7810											
LIMCH1	22998	genome.wustl.edu	37	chr4	41621210	41621210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcttccctagggagaGgaagcgactctgaatccgac	10	13	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:41621210G>A	ENST00000313860.7	+	8	742	c.688G>A	c.(688-690)Gga>Aga	p.G230R	LIMCH1_ENST00000381753.4_Missense_Mutation_p.G76R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G76R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G83R|LIMCH1_ENST00000509638.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G76R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000509454.1_Missense_Mutation_p.G78R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	230					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTAGGGAGAGGAAGCGACTC	0.512																																																	0								ENSG00000064042						252	262	258					4																	41621210		2203	4300	6503	LIMCH1	SO:0001583	missense	0			-	HGNC	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.688G>A	4.37:g.41621210G>A	ENSP00000316891:p.Gly230Arg	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	10	67.74	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G71R	ENST00000313860.7	37	c.211	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662252	0.67700	.	.	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.75;1.36;1.36;1.36;0.79;1.3;0.76;0.78;0.75;0.74;0.78;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.60455	1.87	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.991;1.0;0.999;0.999;1.0;1.0;0.999;1.0;1.0;1.0;0.999	T	0.66995	-0.5782	10	0.56958	D	0.05	-25.5635	19.8155	0.96566	0.0:0.0:1.0:0.0	.	76;230;76;76;78;71;71;230;230;230;230	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	R	71;71;230;230;230;230;230;71;71;71;70;83;76;78;76;76	ENSP00000425222:G71R;ENSP00000424825:G230R;ENSP00000424645:G230R;ENSP00000316891:G230R;ENSP00000427045:G230R;ENSP00000424437:G230R;ENSP00000425631:G71R;ENSP00000421242:G71R;ENSP00000426334:G83R;ENSP00000422864:G76R;ENSP00000379840:G76R;ENSP00000371172:G76R	ENSP00000316891:G230R	G	+	1	0	LIMCH1	41315967	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	9.476000	0.97823	2.691000	0.91804	0.563000	0.77884	GGA	-	NULL		0.512	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	protein_coding	OTTHUMT00000361249.2	G	NM_014988	-		41621210	1	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41621210	G	A	41621210	3	1	112	1	0	0	0	0	1	0	0	0	8799	1001	35	2	746	2	LIMCH1	4	41621210	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	17817739	41621210	149533066	316	7811											
ATP8A1	10396	genome.wustl.edu	37	chr4	42577716	42577716	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatagtgcatgtcaagatCctttaataaaattaagtaaa	5	5	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:42577716C>T	ENST00000381668.5	-	13	1360	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	ATP8A1_ENST00000264449.10_Splice_Site_p.D377N	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	377					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATGTCAAGATCCTTTAATAAA	0.333																																																	0								ENSG00000124406						152	158	156					4																	42577716		2203	4300	6503	ATP8A1	SO:0001630	splice_region_variant	0			-	HGNC	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1129-1G>A	4.37:g.42577716C>T		Somatic	0	121	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	25	63.77	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D377N	ENST00000381668.5	37	c.1129	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.536694	0.96460	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.72167	-0.63;-0.63	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89876	0.6842	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.971;1.0;1.0	D	0.91644	0.5329	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;377	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	N	377	ENSP00000371084:D377N;ENSP00000264449:D377N	ENSP00000264449:D377N	D	-	1	0	ATP8A1	42272473	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.707000	0.84623	2.885000	0.99019	0.655000	0.94253	GAT	-	tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase		0.333	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	protein_coding	OTTHUMT00000216861.2	C	NM_006095	-	Missense_Mutation	42577716	-1	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42577716	C	T	42577716	5	4	112	1	0	0	0	0	0	0	1	0	1192	869	30	2	2465	2	ATP8A1	4	42577716	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	956506	42577716	148576560	317	7812											
OCIAD1	54940	genome.wustl.edu	37	chr4	48834668	48834668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggctgattttcgagaGccgaatgcagaggttccaag	16	7	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:48834668G>A	ENST00000381473.3	+	2	445	c.27G>A	c.(25-27)gaG>gaA	p.E9E	OCIAD1_ENST00000425583.2_Silent_p.E9E|OCIAD1_ENST00000444354.2_Silent_p.E9E|OCIAD1_ENST00000396448.2_Silent_p.E9E|OCIAD1_ENST00000264312.7_Silent_p.E9E|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000508293.1_Silent_p.E9E|OCIAD1_ENST00000509122.1_Silent_p.E9E|OCIAD1_ENST00000512981.1_Intron|OCIAD1_ENST00000513391.2_Silent_p.E9E	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	9	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATTTTCGAGAGCCGAATGCAG	0.353																																																	0								ENSG00000109180						153	172	165					4																	48834668		2203	4300	6503	OCIAD1	SO:0001819	synonymous_variant	0			-	HGNC	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.27G>A	4.37:g.48834668G>A		Somatic	0	180	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	96	40.74	C9K030|G8JLN7|Q9BZE8	Silent	SNP							pfam_OCIA	p.E9	ENST00000381473.3	37	c.27	CCDS3484.1	4																																																																																			-	NULL		0.353	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	protein_coding	OTTHUMT00000361812.3	G	NM_017830	-		48834668	1	no_errors	ENST00000264312	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48834668	G	A	48834668	2	1	112	1	0	0	0	0	0	0	0	1	10819	962	34	2		2	OCIAD1	4	48834668	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6256952	48834668	142319608	318	7813											
DCUN1D4	23142	genome.wustl.edu	37	chr4	52743988	52743988	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagccttttcaagtaAaaggtgcttggaatggttct	11	5	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:52743988A>T	ENST00000334635.5	+	5	491	c.311A>T	c.(310-312)aAa>aTa	p.K104I	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.K44I|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.K104I|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.K148I	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	104	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTTTCAAGTAAAAGGTGCTTG	0.318																																																	0								ENSG00000109184						115	131	126					4																	52743988		2203	4298	6501	DCUN1D4	SO:0001583	missense	0			-	HGNC	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.311A>T	4.37:g.52743988A>T	ENSP00000334625:p.Lys104Ile	Somatic	0	204	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	140	35.19	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP							pfam_PONY_dom	p.K148I	ENST00000334635.5	37	c.443	CCDS33982.1	4	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504065	0.85176	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	T;T;T	0.68765	-0.35;-0.35;-0.35	5.77	5.77	0.91146	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.88181	2.935	0.58432	D	0.999993	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.996;0.969	D	0.87070	0.2159	10	0.87932	D	0	-16.1588	13.8256	0.63348	1.0:0.0:0.0:0.0	.	148;104;104	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	I	104;104;44;148;148	ENSP00000334625:K104I;ENSP00000370846:K44I;ENSP00000389900:K148I	ENSP00000334625:K104I	K	+	2	0	DCUN1D4	52438745	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.353000	0.79414	2.202000	0.70862	0.528000	0.53228	AAA	-	NULL		0.318	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	DCUN1D4	protein_coding	OTTHUMT00000250599.2	A	NM_015115	-		52743988	1	no_errors	ENST00000451288	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52743988	A	T	52743988	3	4	112	1	0	0	0	0	1	0	0	0	4318	14	1	5	329	5	DCUN1D4	4	52743988	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	3909320	52743988	138410288	319	7814											
TMPRSS11F	389208	genome.wustl.edu	37	chr4	68939712	68939712	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcctacagaagaatgtcGaaatatcctagacatctgat	7	10	1	4	rs542655796		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:68939712G>A	ENST00000356291.2	-	4	357	c.298C>T	c.(298-300)Cga>Tga	p.R100*	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	100	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244													g|||	1	0.000199681	0	0	5008	,	,		16271	0.001		0	False		,,,				2504	0																0								ENSG00000198092						30	29	29					4																	68939712		2196	4293	6489	TMPRSS11F	SO:0001587	stop_gained	0			-	HGNC	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.298C>T	4.37:g.68939712G>A	ENSP00000348639:p.Arg100*	Somatic	0	173	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	54	54.62	A8MXX2	Nonsense_Mutation	SNP							pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1	p.R100*	ENST00000356291.2	37	c.298	CCDS3520.1	4	.	.	.	.	.	.	.	.	.	.	g	22.1	4.251053	0.80135	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.53	3.8	0.43715	.	0.436137	0.19621	N	0.109909	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3813	0.38316	0.0:0.1567:0.6804:0.1629	.	.	.	.	X	100	.	ENSP00000348639:R100X	R	-	1	2	TMPRSS11F	68622307	0.664000	0.27457	0.997000	0.53966	0.573000	0.36030	0.786000	0.26844	0.695000	0.31675	-0.121000	0.15023	CGA	-	pirsf_Pept_S1A_HAT/DESC1,pfam_SEA_dom,pfscan_SEA_dom		0.244	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11F	protein_coding	OTTHUMT00000251439.1	G	NM_207407	-		68939712	-1	no_errors	ENST00000356291	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	68939712	G	A	68939712	4	1	112	1	0	0	0	0	0	1	0	0	16250	1066	37	1	1046	1	TMPRSS11F	4	68939712	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	16195724	68939712	122214564	320	7815											
TMPRSS11B	132724	genome.wustl.edu	37	chr4	69100305	69100305	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctggaggaaacttgaatttCagctgtaactgcacatttga	10	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:69100305C>T	ENST00000332644.5	-	5	506	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	115	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ACTTGAATTTCAGCTGTAACT	0.373																																																	0								ENSG00000185873						103	94	97					4																	69100305		2203	4300	6503	TMPRSS11B	SO:0001819	synonymous_variant	0			-	HGNC	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.345G>A	4.37:g.69100305C>T		Somatic	0	96	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	26	65.33	A8K4D9	Silent	SNP							pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L115	ENST00000332644.5	37	c.345	CCDS3521.1	4																																																																																			-	pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom		0.373	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	protein_coding	OTTHUMT00000251431.2	C	NM_182502	-		69100305	-1	no_errors	ENST00000332644	ensembl	human	known	74_37	silent	SNP	0.069	T	T	69100305	C	T	69100305	2	4	112	1	0	0	0	0	0	0	0	1	16247	813	29	2		2	TMPRSS11B	4	69100305	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	160593	69100305	122053971	321	7816											
UGT2A3	79799	genome.wustl.edu	37	chr4	69811118	69811118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaaaatcccaatatgttCgtattagccatatctcagct	4	10	2	0	rs148723888	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:69811118C>T	ENST00000251566.4	-	2	800	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	257					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAATATGTTCGTATTAGCCA	0.373																																																	0								ENSG00000135220	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106	98	101		770	1.4	0	4	dbSNP_134	101	5,8595	4.3+/-15.6	0,5,4295	yes	missense	UGT2A3	NM_024743.3	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging	257/528	69811118	6,13000	2203	4300	6503	UGT2A3	SO:0001583	missense	0			-	HGNC		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.770G>A	4.37:g.69811118C>T	ENSP00000251566:p.Arg257Gln	Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	12	76.47	Q9H6S4	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R257Q	ENST00000251566.4	37	c.770	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258084	0.39896	2.27E-4	5.81E-4	ENSG00000135220	ENST00000251566	T	0.62105	0.05	3.23	1.4	0.22301	.	0.118593	0.53938	N	0.000056	T	0.54515	0.1863	M	0.79011	2.435	0.80722	D	1	P	0.43431	0.807	B	0.36289	0.221	T	0.52881	-0.8516	10	0.59425	D	0.04	.	6.0403	0.19730	0.0:0.6883:0.1939:0.1178	.	257	Q6UWM9	UD2A3_HUMAN	Q	257	ENSP00000251566:R257Q	ENSP00000251566:R257Q	R	-	2	0	UGT2A3	69845707	0.990000	0.36364	0.005000	0.12908	0.627000	0.37826	3.340000	0.52143	0.179000	0.19938	-0.350000	0.07774	CGA	-	pfam_UDP_glucos_trans		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	protein_coding	OTTHUMT00000251564.1	C	NM_024743	rs148723888		69811118	-1	no_errors	ENST00000251566	ensembl	human	known	74_37	missense	SNP	0.899	T	T	69811118	C	T	69811118	3	4	112	1	0	0	0	0	1	0	0	0	16962	884	31	1	833	1	UGT2A3	4	69811118	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	710813	69811118	121343158	322	7817											
ENAM	10117	genome.wustl.edu	37	chr4	71509597	71509597	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaccccagctgggcttcaGaaaaatccaatatggcatga	8	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:71509597G>A	ENST00000396073.3	+	9	2735	c.2454G>A	c.(2452-2454)caG>caA	p.Q818Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	818					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTGGGCTTCAGAAAAATCCAA	0.433																																																	0								ENSG00000132464						76	79	78					4																	71509597		2203	4300	6503	ENAM	SO:0001819	synonymous_variant	0			-	HGNC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2454G>A	4.37:g.71509597G>A		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	15	67.39	Q17RI5|Q9H3D1	Silent	SNP							NULL	p.Q818	ENST00000396073.3	37	c.2454	CCDS3544.2	4																																																																																			-	NULL		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	G	NM_031889	-		71509597	1	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	SNP	1.000	A	A	71509597	G	A	71509597	2	1	112	1	0	0	0	0	0	0	0	1	5114	933	33	2		2	ENAM	4	71509597	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1698479	71509597	119644679	323	7818											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73205402	73205402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcatcaaggccttccaGgtccgactctaataagagac	8	11	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:73205402G>A	ENST00000286657.4	-	5	706	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	224					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTTCCAGGTCCGACTCT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)												0								ENSG00000156140						136	136	136					4																	73205402		2203	4300	6503	ADAMTS3	SO:0001819	synonymous_variant	0			-	HGNC	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.670C>T	4.37:g.73205402G>A		Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	9	71.88	A1L3U9|Q9BXZ8	Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.L224	ENST00000286657.4	37	c.670	CCDS3553.1	4																																																																																			-	NULL		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	G		-		73205402	-1	no_errors	ENST00000286657	ensembl	human	known	74_37	silent	SNP	0.370	A	A	73205402	G	A	73205402	2	1	112	1	0	0	0	0	0	0	0	1	267	991	35	2		2	ADAMTS3	4	73205402	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1695805	73205402	117948874	324	7819											
CCDC158	339965	genome.wustl.edu	37	chr4	77290759	77290759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagactcagctccttctcCcttttgtgtagatcagccta	6	14	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:77290759C>T	ENST00000388914.3	-	10	1319	c.1167G>A	c.(1165-1167)agG>agA	p.R389R		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	389										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCTTCTCCCTTTTGTGTA	0.433																																																	0								ENSG00000163749						80	80	80					4																	77290759		1964	4138	6102	CCDC158	SO:0001819	synonymous_variant	0			-	HGNC	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1167G>A	4.37:g.77290759C>T		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP							superfamily_Prefoldin	p.R389	ENST00000388914.3	37	c.1167	CCDS43242.1	4																																																																																			-	NULL		0.433	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	protein_coding	OTTHUMT00000362694.2	C	NM_001042784	-		77290759	-1	no_errors	ENST00000388914	ensembl	human	known	74_37	silent	SNP	0.991	T	T	77290759	C	T	77290759	2	4	112	1	0	0	0	0	0	0	0	1	2792	622	22	2		2	CCDC158	4	77290759	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4085357	77290759	113863517	325	7820											
FRAS1	80144	genome.wustl.edu	37	chr4	79437159	79437159	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgggggctctgtaaccgctGacttccaggtaggtgccccg	15	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:79437159G>T	ENST00000264895.6	+	66	10821	c.10381G>T	c.(10381-10383)Gac>Tac	p.D3461Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3457					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)	p.D3461N(1)|p.D3462N(1)		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						TGTAACCGCTGACTTCCAGGT	0.512																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000138759						63	67	66					4																	79437159		2135	4262	6397	FRAS1	SO:0001583	missense	0			-	HGNC	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	ENST00000264895.6:c.10381G>T	4.37:g.79437159G>T	ENSP00000264895:p.Asp3461Tyr	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.D3461Y	ENST00000264895.6	37	c.10381	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.741521|3.741521	0.69304|0.69304	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.21361|.	2.01|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82999|.	0.5159|.	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.82661|.	-0.0347|.	10|.	0.87932|.	D|.	0|.	.|.	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3461|.	E9PHH6|.	.|.	Y|L	3461|1689	ENSP00000264895:D3461Y|.	ENSP00000264895:D3461Y|.	D|X	+|+	1|2	0|2	FRAS1|FRAS1	79656183|79656183	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.187000|0.187000	0.23431|0.23431	9.334000|9.334000	0.96470|0.96470	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GAC|TGA	-	NULL		0.512	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		G		-		79437159	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79437159	G	T	79437159	3	4	112	1	0	0	0	0	1	0	0	0	6044	1290	45	3	10718	3	FRAS1	4	79437159	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2146400	79437159	111717117	326	7821											
ANXA3	306	genome.wustl.edu	37	chr4	79507444	79507444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaacgaagatgccttgattGaaatcttaactaccaggaca	7	9	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:79507444G>A	ENST00000264908.6	+	6	722	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ANXA3_ENST00000503570.2_Missense_Mutation_p.E76K|ANXA3_ENST00000512884.1_Missense_Mutation_p.E76K	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	115					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGCCTTGATTGAAATCTTAAC	0.363																																					GBM(2;126 157 27790 28920 42492)												0								ENSG00000138772						143	139	141					4																	79507444		2203	4300	6503	ANXA3	SO:0001583	missense	0			-	HGNC	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.343G>A	4.37:g.79507444G>A	ENSP00000264908:p.Glu115Lys	Somatic	0	156	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	45	58.33	B2R9W6|Q6LET2	Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.E115K	ENST00000264908.6	37	c.343	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.147407	0.94603	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000514171;ENST00000508214	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.82;2.82	5.33	5.33	0.75918	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53940	-0.8367	10	0.87932	D	0	.	17.961	0.89085	0.0:0.0:1.0:0.0	.	115	P12429	ANXA3_HUMAN	K	115;76;76;115;115	ENSP00000264908:E115K;ENSP00000423068:E76K;ENSP00000421015:E76K;ENSP00000421512:E115K;ENSP00000422281:E115K	ENSP00000264908:E115K	E	+	1	0	ANXA3	79726468	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.823000	0.75282	2.777000	0.95525	0.591000	0.81541	GAA	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin		0.363	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	protein_coding	OTTHUMT00000252516.3	G	NM_005139	-		79507444	1	no_errors	ENST00000264908	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79507444	G	A	79507444	3	1	112	1	0	0	0	0	1	0	0	0	719	1291	45	2	361	2	ANXA3	4	79507444	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	70285	79507444	111646832	327	7822											
PRKG2	5593	genome.wustl.edu	37	chr4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactcttgctttctcaaagGaaaattcagggggtttgttc	10	7	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453																																																	0								ENSG00000138669						192	225	214					4																	82125774		2203	4300	6503	PRKG2	SO:0001583	missense	0			-	HGNC	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.428C>T	4.37:g.82125774G>A	ENSP00000378945:p.Ser143Phe	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	37	49.32	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.S143F	ENST00000395578.1	37	c.428	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406089	0.42715	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.71341	-0.43;-0.43;-0.56	5.31	5.31	0.75309	.	0.127503	0.56097	D	0.000022	T	0.69242	0.3089	L	0.54323	1.7	0.80722	D	1	B;B	0.25955	0.052;0.138	B;B	0.25987	0.022;0.065	T	0.67288	-0.5708	10	0.52906	T	0.07	-14.9783	18.7471	0.91797	0.0:0.0:1.0:0.0	.	143;143	E7EPE6;Q13237	.;KGP2_HUMAN	F	143	ENSP00000378945:S143F;ENSP00000264399:S143F;ENSP00000389038:S143F	ENSP00000264399:S143F	S	-	2	0	PRKG2	82344798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	2.747000	0.94245	0.585000	0.79938	TCC	-	pirsf_cGMP-dependent_protein_kinase		0.453	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	protein_coding	OTTHUMT00000252639.1	G	NM_006259	-		82125774	-1	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82125774	G	A	82125774	3	1	112	1	0	0	0	0	1	0	0	0	12528	1174	41	2	1932	2	PRKG2	4	82125774	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2618330	82125774	109028502	328	7823											
ABCG2	9429	genome.wustl.edu	37	chr4	89020483	89020483	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttacatacttacctaacatGaagtacactatacaggtaaa	5	8	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:89020483G>A	ENST00000237612.3	-	12	2030	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	ABCG2_ENST00000515655.1_Silent_p.F495F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	495	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TACCTAACATGAAGTACACTA	0.343																																																	0								ENSG00000118777						111	110	110					4																	89020483		2203	4299	6502	ABCG2	SO:0001819	synonymous_variant	0			-	HGNC	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1485C>T	4.37:g.89020483G>A		Somatic	0	140	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	31	66.30	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F495	ENST00000237612.3	37	c.1485	CCDS3628.1	4																																																																																			-	pfam_ABC_2_trans		0.343	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	protein_coding	OTTHUMT00000253051.1	G	NM_004827	-		89020483	-1	no_errors	ENST00000237612	ensembl	human	known	74_37	silent	SNP	0.987	A	A	89020483	G	A	89020483	2	1	112	1	0	0	0	0	0	0	0	1	69	1281	45	2		2	ABCG2	4	89020483	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6894709	89020483	102133793	329	7824											
GRID2	2895	genome.wustl.edu	37	chr4	94376855	94376855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttaaccatcactccagatCgtgaaaatgtggtggacttt	8	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:94376855C>T	ENST00000282020.4	+	11	1846	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GRID2_ENST00000510992.1_Missense_Mutation_p.R435C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	530					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CACTCCAGATCGTGAAAATGT	0.418																																																	0								ENSG00000152208						117	110	112					4																	94376855		2203	4300	6503	GRID2	SO:0001583	missense	0			-	HGNC	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1588C>T	4.37:g.94376855C>T	ENSP00000282020:p.Arg530Cys	Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	12	52.00	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R530C	ENST00000282020.4	37	c.1588	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248524	0.80024	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.70869	-0.52;-0.52	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92710	0.6182	10	0.87932	D	0	.	16.0625	0.80847	0.142:0.858:0.0:0.0	.	435;530	E9PH24;O43424	.;GRID2_HUMAN	C	530;435	ENSP00000282020:R530C;ENSP00000421257:R435C	ENSP00000282020:R530C	R	+	1	0	GRID2	94595878	1.000000	0.71417	0.987000	0.45799	0.776000	0.43924	5.028000	0.64115	2.836000	0.97738	0.655000	0.94253	CGT	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	protein_coding	OTTHUMT00000253588.2	C		-		94376855	1	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94376855	C	T	94376855	3	4	112	1	0	0	0	0	1	0	0	0	6774	884	31	1	1630	1	GRID2	4	94376855	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5356372	94376855	96777421	330	7825											
ADH4	127	genome.wustl.edu	37	chr4	100063861	100063861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgagccttggggggaGctacttcaacctcttcaatg	10	11	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:100063861G>A	ENST00000265512.7	-	2	163	c.89C>T	c.(88-90)gCt>gTt	p.A30V	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Missense_Mutation_p.A49V|ADH4_ENST00000505590.1_Missense_Mutation_p.A49V|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Missense_Mutation_p.A49V	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	30					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CTTGGGGGGAGCTACTTCAAC	0.517																																																	0								ENSG00000198099						71	62	65					4																	100063861		2203	4300	6503	ADH4	SO:0001583	missense	0			-	HGNC	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.89C>T	4.37:g.100063861G>A	ENSP00000265512:p.Ala30Val	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	19	55.81	A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP							pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.A49V	ENST00000265512.7	37	c.146	CCDS34032.1	4	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332426	0.60853	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.03689	3.84;3.84;3.84;3.84;3.84;3.84	4.16	1.19	0.21007	GroES-like (1);	0.077393	0.49916	D	0.000129	T	0.07413	0.0187	M	0.88241	2.94	0.58432	D	0.999998	P;P	0.46457	0.876;0.878	B;B	0.39419	0.288;0.299	T	0.14559	-1.0468	10	0.87932	D	0	0.8535	8.2254	0.31566	0.079:0.0:0.6489:0.2721	.	49;30	P08319-2;P08319	.;ADH4_HUMAN	V	49;30;49;49;49;30	ENSP00000424630:A49V;ENSP00000265512:A30V;ENSP00000397939:A49V;ENSP00000425416:A49V;ENSP00000423571:A49V;ENSP00000427525:A30V	ENSP00000265512:A30V	A	-	2	0	ADH4	100282884	0.985000	0.35326	0.982000	0.44146	0.991000	0.79684	3.238000	0.51352	0.499000	0.27970	0.655000	0.94253	GCT	-	superfamily_GroES-like,smart_PKS_ER		0.517	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	protein_coding	OTTHUMT00000364220.2	G	NM_000670	-		100063861	-1	no_errors	ENST00000423445	ensembl	human	known	74_37	missense	SNP	0.999	A	A	100063861	G	A	100063861	3	1	112	1	0	0	0	0	1	0	0	0	310	971	34	2	1085	2	ADH4	4	100063861	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5687006	100063861	91090415	331	7826											
ADH7	131	genome.wustl.edu	37	chr4	100340163	100340163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaagacacatcccttcCatgtgcgtccagtgaagagc	8	14	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:100340163C>T	ENST00000209665.4	-	7	1217	c.977G>A	c.(976-978)tGg>tAg	p.W326*	ADH7_ENST00000476959.1_Nonsense_Mutation_p.W334*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.W257*|ADH7_ENST00000437033.2_Nonsense_Mutation_p.W314*	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACATCCCTTCCATGTGCGTCC	0.532																																																	0								ENSG00000196344						137	113	122					4																	100340163		2203	4300	6503	ADH7	SO:0001587	stop_gained	0			-	HGNC	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.977G>A	4.37:g.100340163C>T	ENSP00000209665:p.Trp326*	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	19	60.42	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Nonsense_Mutation	SNP							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.W326*	ENST00000209665.4	37	c.977	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.196848	0.97367	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	.	.	.	4.53	3.68	0.42216	.	0.057965	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.4967	11.5515	0.50723	0.325:0.675:0.0:0.0	.	.	.	.	X	314;326;257;334	.	ENSP00000209665:W326X	W	-	2	0	ADH7	100559186	1.000000	0.71417	0.530000	0.27963	0.676000	0.39594	4.697000	0.61782	1.090000	0.41315	0.655000	0.94253	TGG	-	pfam_ADH_C		0.532	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	protein_coding		C	NM_000673	-		100340163	-1	no_errors	ENST00000209665	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	100340163	C	T	100340163	4	4	112	1	0	0	0	0	0	1	0	0	313	595	21	2	195	2	ADH7	4	100340163	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	276302	100340163	90814113	332	7827											
KIAA1109	84162	genome.wustl.edu	37	chr4	123274193	123274193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caatgagcttacatggaaatCatatgacactggcatgtttt	8	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:123274193C>T	ENST00000264501.4	+	81	14357	c.13984C>T	c.(13984-13986)Cat>Tat	p.H4662Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H4662Y			Q2LD37	K1109_HUMAN	KIAA1109	4662					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						ACATGGAAATCATATGACACT	0.373																																																	0								ENSG00000138688						150	136	140					4																	123274193		1888	4112	6000	KIAA1109	SO:0001583	missense	0			-	HGNC	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.13984C>T	4.37:g.123274193C>T	ENSP00000264501:p.His4662Tyr	Somatic	0	108	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	17	70.69	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP							pfam_Fragile_site-assoc_C	p.H4662Y	ENST00000264501.4	37	c.13984	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755702	0.89843	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.44482	0.92;0.92;0.92	5.86	5.86	0.93980	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.79108	0.979;0.992	T	0.60485	-0.7254	10	0.72032	D	0.01	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	4661;4662	Q2LD37-4;Q2LD37	.;K1109_HUMAN	Y	4662;4662;1331;263	ENSP00000264501:H4662Y;ENSP00000373390:H4662Y;ENSP00000410874:H1331Y	ENSP00000264501:H4662Y	H	+	1	0	KIAA1109	123493643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.776000	0.95493	0.650000	0.86243	CAT	-	pfam_Fragile_site-assoc_C		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	C	NM_020797	-		123274193	1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123274193	C	T	123274193	3	4	112	1	0	0	0	0	1	0	0	0	8210	826	29	2	14298	2	KIAA1109	4	123274193	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	22934030	123274193	67880083	333	7828											
ADAD1	132612	genome.wustl.edu	37	chr4	123305104	123305104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggatgaacctgaaccacGaattttagaaacatcaggta	8	8	1	3	rs78087673	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:123305104G>A	ENST00000296513.2	+	5	697	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	ADAD1_ENST00000388724.2_Missense_Mutation_p.R171Q|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.R153Q	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	171					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGAACCACGAATTTTAGAA	0.338													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16892	0		0	False		,,,				2504	0																0								ENSG00000164113						68	67	67					4																	123305104		2203	4300	6503	ADAD1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.512G>A	4.37:g.123305104G>A	ENSP00000296513:p.Arg171Gln	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	24	62.50	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R171Q	ENST00000296513.2	37	c.512	CCDS34058.1	4	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.715	0.133027	0.09032	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.30182	1.54;1.54;1.54	5.84	2.2	0.27929	.	0.673744	0.15494	N	0.259369	T	0.15955	0.0384	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.001;0.002	T	0.20706	-1.0267	9	.	.	.	-3.2746	1.5828	0.02638	0.2185:0.1509:0.475:0.1557	.	171;171	Q96M93-2;Q96M93	.;ADAD1_HUMAN	Q	171;171;171;153	ENSP00000296513:R171Q;ENSP00000373376:R171Q;ENSP00000373377:R153Q	.	R	+	2	0	ADAD1	123524554	0.010000	0.17322	0.161000	0.22692	0.358000	0.29455	0.460000	0.21924	0.381000	0.24851	-0.233000	0.12211	CGA	-	NULL		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	protein_coding	OTTHUMT00000316452.1	G	NM_139243	rs78087673		123305104	1	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	SNP	0.115	A	A	123305104	G	A	123305104	3	1	112	1	0	0	0	0	1	0	0	0	231	1058	37	1	522	1	ADAD1	4	123305104	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	30911	123305104	67849172	334	7829											
SPRY1	10252	genome.wustl.edu	37	chr4	124322809	124322809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatccagcagccttctttGgatagccgtcagagattaga	11	9	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:124322809G>A	ENST00000394339.2	+	2	403	c.63G>A	c.(61-63)ttG>ttA	p.L21L	SPRY1_ENST00000339241.1_Silent_p.L21L	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	21					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCCTTCTTTGGATAGCCGTC	0.458																																																	0								ENSG00000164056						182	193	189					4																	124322809		2203	4300	6503	SPRY1	SO:0001819	synonymous_variant	0			-	HGNC	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.63G>A	4.37:g.124322809G>A		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	13	69.05	D3DNX6|Q6PNE0	Silent	SNP							pfam_Sprouty	p.L21	ENST00000394339.2	37	c.63	CCDS3731.1	4																																																																																			-	NULL		0.458	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	protein_coding	OTTHUMT00000256711.1	G		-		124322809	1	no_errors	ENST00000339241	ensembl	human	known	74_37	silent	SNP	0.999	A	A	124322809	G	A	124322809	2	1	112	1	0	0	0	0	0	0	0	1	15112	1339	47	2		2	SPRY1	4	124322809	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1017705	124322809	66831467	335	7830											
TBC1D9	23158	genome.wustl.edu	37	chr4	141590131	141590131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcccttcaacaccagctCccgcgttttctctgtgcggt	9	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:141590131C>T	ENST00000442267.2	-	9	1602	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	510							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AACACCAGCTCCCGCGTTTTC	0.567																																																	0								ENSG00000109436						47	55	53					4																	141590131		2169	4280	6449	TBC1D9	SO:0001583	missense	0			-	HGNC	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1528G>A	4.37:g.141590131C>T	ENSP00000411197:p.Glu510Lys	Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	19	64.81	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.E510K	ENST00000442267.2	37	c.1528	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432932	0.62844	.	.	ENSG00000109436	ENST00000442267	T	0.04119	3.7	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.130264	0.64402	D	0.000001	T	0.04815	0.0130	L	0.28556	0.865	0.54753	D	0.999987	B	0.06786	0.001	B	0.06405	0.002	T	0.25676	-1.0125	10	0.02654	T	1	-4.8707	20.0018	0.97417	0.0:1.0:0.0:0.0	.	510	Q6ZT07	TBCD9_HUMAN	K	510	ENSP00000411197:E510K	ENSP00000411197:E510K	E	-	1	0	TBC1D9	141809581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.793000	0.96121	0.655000	0.94253	GAG	-	superfamily_Rab-GTPase-TBC_dom		0.567	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	protein_coding	OTTHUMT00000364806.1	C	NM_015130	-		141590131	-1	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141590131	C	T	141590131	3	4	112	1	0	0	0	0	1	0	0	0	15634	864	30	2	2324	2	TBC1D9	4	141590131	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	17267322	141590131	49564145	336	7831											
LRBA	987	genome.wustl.edu	37	chr4	151356812	151356812	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaaaagttcgatctgcatGatcaaatttgcctccttgca	7	9	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:151356812G>A	ENST00000357115.3	-	47	7246	c.7003C>T	c.(7003-7005)Cat>Tat	p.H2335Y	LRBA_ENST00000510413.1_Missense_Mutation_p.H2324Y|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.H2324Y|LRBA_ENST00000535741.1_Missense_Mutation_p.H2324Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2335	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					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)					CGATCTGCATGATCAAATTTG	0.333																																																	0								ENSG00000198589						74	79	77					4																	151356812		2203	4300	6503	LRBA	SO:0001583	missense	0			-	HGNC	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.7003C>T	4.37:g.151356812G>A	ENSP00000349629:p.His2335Tyr	Somatic	0	222	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	101	81	55.49	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.H2335Y	ENST00000357115.3	37	c.7003	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498147	0.64186	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.5	5.5	0.81552	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	L	0.60904	1.88	0.80722	D	1	B;B;B	0.26775	0.159;0.142;0.021	B;B;B	0.28849	0.04;0.095;0.014	T	0.73691	-0.3903	10	0.12103	T	0.63	.	19.3801	0.94529	0.0:0.0:1.0:0.0	.	2335;2324;225	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	Y	2324;2324;2335;2324	ENSP00000446299:H2324Y;ENSP00000421552:H2324Y;ENSP00000349629:H2335Y;ENSP00000422180:H2324Y	ENSP00000349629:H2335Y	H	-	1	0	LRBA	151576262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.771000	0.98977	2.574000	0.86865	0.591000	0.81541	CAT	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	G		-		151356812	-1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151356812	G	A	151356812	3	1	112	1	0	0	0	0	1	0	0	0	8933	1290	45	2	1636	2	LRBA	4	151356812	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	9766681	151356812	39797464	337	7832											
DCHS2	54798	genome.wustl.edu	37	chr4	155191119	155191119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaatatttcatgctgtcCtgaattgagtcaggagcaaa	9	6	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:155191119C>T	ENST00000357232.4	-	19	5144	c.5145G>A	c.(5143-5145)caG>caA	p.Q1715Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1715	Cadherin 15. {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)		TCATGCTGTCCTGAATTGAGT	0.333																																																	0								ENSG00000197410						81	80	80					4																	155191119		2203	4299	6502	DCHS2	SO:0001819	synonymous_variant	0			-	HGNC	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.5145G>A	4.37:g.155191119C>T		Somatic	0	205	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	58	58.87	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1715	ENST00000357232.4	37	c.5145	CCDS3785.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.333	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552	-		155191119	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	silent	SNP	0.002	T	T	155191119	C	T	155191119	2	4	112	1	0	0	0	0	0	0	0	1	4290	680	24	2		2	DCHS2	4	155191119	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3834307	155191119	35963157	338	7833											
DCHS2	54798	genome.wustl.edu	37	chr4	155241759	155241759	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgatctcagtcgccggtCtgtcacattcacagcctgat	9	13	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:155241759C>T	ENST00000357232.4	-	14	3426	c.3427G>A	c.(3427-3429)Gac>Aac	p.D1143N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1143	Cadherin 9. {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)		AGTCGCCGGTCTGTCACATTC	0.458																																																	0								ENSG00000197410						205	203	204					4																	155241759		2203	4300	6503	DCHS2	SO:0001583	missense	0			-	HGNC	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.3427G>A	4.37:g.155241759C>T	ENSP00000349768:p.Asp1143Asn	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1143N	ENST00000357232.4	37	c.3427	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892211	0.72524	.	.	ENSG00000197410	ENST00000357232	T	0.56103	0.48	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.166103	0.41001	D	0.000970	T	0.67230	0.2871	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.67047	-0.5769	10	0.52906	T	0.07	.	15.1224	0.72453	0.0:0.859:0.141:0.0	.	1143	Q6V1P9	PCD23_HUMAN	N	1143	ENSP00000349768:D1143N	ENSP00000349768:D1143N	D	-	1	0	DCHS2	155461209	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.431000	0.59915	2.636000	0.89361	0.563000	0.77884	GAC	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552	-		155241759	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155241759	C	T	155241759	3	4	112	1	0	0	0	0	1	0	0	0	4290	913	32	2	5371	2	DCHS2	4	155241759	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	50640	155241759	35912517	339	7834											
GLRA3	8001	genome.wustl.edu	37	chr4	175649663	175649663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttccatttttgaaaattcTtagcaatttgttgtctgtag	6	5	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:175649663T>C	ENST00000274093.3	-	4	956	c.454A>G	c.(454-456)Aga>Gga	p.R152G	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.R152G	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	152					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTGAAAATTCTTAGCAATTTG	0.373																																																	0								ENSG00000145451						96	95	95					4																	175649663		2203	4300	6503	GLRA3	SO:0001583	missense	0			-	HGNC	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.454A>G	4.37:g.175649663T>C	ENSP00000274093:p.Arg152Gly	Somatic	1	102	0.97		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	22	56.60	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R152G	ENST00000274093.3	37	c.454	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288481	0.59976	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.79352	-1.26;-1.26	4.65	3.44	0.39384	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.93594	3.435	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.90431	0.4424	10	0.87932	D	0	.	11.1032	0.48188	0.0:0.0:0.2945:0.7055	.	152;152	O75311-2;O75311	.;GLRA3_HUMAN	G	152	ENSP00000274093:R152G;ENSP00000345284:R152G	ENSP00000274093:R152G	R	-	1	2	GLRA3	175886238	0.671000	0.27521	1.000000	0.80357	0.923000	0.55619	0.409000	0.21082	0.724000	0.32296	0.455000	0.32223	AGA	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.373	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	protein_coding	OTTHUMT00000313427.1	T		-		175649663	-1	no_errors	ENST00000274093	ensembl	human	known	74_37	missense	SNP	0.996	C	C	175649663	T	C	175649663	3	2	112	1	0	0	0	0	1	0	0	0	6458	1617	56	5	968	5	GLRA3	4	175649663	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	20407904	175649663	15504613	340	7835											
ENPP6	133121	genome.wustl.edu	37	chr4	185038021	185038021	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcttgcctcagagtgtttCccaggggccggccaaaggct	13	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:185038021C>T	ENST00000296741.2	-	5	984	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	281					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGAGTGTTTCCCAGGGGCCG	0.557																																																	0								ENSG00000164303						66	67	66					4																	185038021		2203	4300	6503	ENPP6	SO:0001819	synonymous_variant	0			-	HGNC	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.843G>A	4.37:g.185038021C>T		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	16	59.52	Q4W5Q1|Q96M57	Silent	SNP							pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G281	ENST00000296741.2	37	c.843	CCDS3834.1	4																																																																																			-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.557	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	protein_coding	OTTHUMT00000361428.1	C	NM_153343	-		185038021	-1	no_errors	ENST00000296741	ensembl	human	known	74_37	silent	SNP	0.949	T	T	185038021	C	T	185038021	2	4	112	1	0	0	0	0	0	0	0	1	5136	842	30	2		2	ENPP6	4	185038021	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9388358	185038021	6116255	341	7836											
KLKB1	3818	genome.wustl.edu	37	chr4	187171550	187171550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatgtatggaaaatcgagtCacaaaggcgagtatgcatgg	12	5	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:187171550C>T	ENST00000264690.6	+	7	939	c.752C>T	c.(751-753)tCa>tTa	p.S251L	KLKB1_ENST00000513864.1_Missense_Mutation_p.S251L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	251	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAATCGAGTCACAAAGGCGA	0.438																																																	0								ENSG00000164344						139	123	128					4																	187171550		2203	4300	6503	KLKB1	SO:0001583	missense	0			-	HGNC	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.752C>T	4.37:g.187171550C>T	ENSP00000264690:p.Ser251Leu	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	31	50.79	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.S251L	ENST00000264690.6	37	c.752	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.91|15.91	2.973179|2.973179	0.53614|0.53614	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.89681	.|-2.55;-2.51	4.1|4.1	4.1|4.1	0.47936|0.47936	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.649587	.|0.14239	.|N	.|0.332222	D|D	0.90518|0.90518	0.7029|0.7029	L|L	0.60455|0.60455	1.87|1.87	0.27079|0.27079	N|N	0.963147|0.963147	.|D;D	.|0.62365	.|0.991;0.967	.|P;P	.|0.59424	.|0.857;0.812	T|T	0.82598|0.82598	-0.0378|-0.0378	5|10	.|0.46703	.|T	.|0.11	.|.	7.1951|7.1951	0.25847|0.25847	0.0:0.7331:0.1742:0.0926|0.0:0.7331:0.1742:0.0926	.|.	.|213;251	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	Y|L	299|251;251;213	.|ENSP00000264690:S251L;ENSP00000424469:S251L	.|ENSP00000264690:S251L	H|S	+|+	1|2	0|0	KLKB1|KLKB1	187408544|187408544	0.329000|0.329000	0.24696|0.24696	0.629000|0.629000	0.29254|0.29254	0.112000|0.112000	0.19704|0.19704	3.058000|3.058000	0.49939|0.49939	2.096000|2.096000	0.63516|0.63516	0.298000|0.298000	0.19748|0.19748	CAC|TCA	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.438	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	protein_coding	OTTHUMT00000317732.1	C	NM_000892	-		187171550	1	no_errors	ENST00000264690	ensembl	human	known	74_37	missense	SNP	0.750	T	T	187171550	C	T	187171550	3	4	112	1	0	0	0	0	1	0	0	0	8414	838	29	2	774	2	KLKB1	4	187171550	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2133529	187171550	3982726	342	7837											
TRIML2	205860	genome.wustl.edu	37	chr4	189012654	189012654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccttggaaggcgcaatggGagaaattgtaaatgagggac	14	6	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:189012654G>A	ENST00000512729.1	-	7	1411	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S371F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGCGCAATGGGAGAAATTGTA	0.483																																																	0								ENSG00000179046						152	158	156					4																	189012654		2203	4300	6503	TRIML2	SO:0001583	missense	0			-	HGNC	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1037C>T	4.37:g.189012654G>A	ENSP00000422581:p.Ser346Phe	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	29	58.57	B7Z6J6	Missense_Mutation	SNP							pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.S346F	ENST00000512729.1	37	c.1037	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627891	0.46944	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.70516	-0.49;-0.49	5.85	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49916	D	0.000121	D	0.84275	0.5436	M	0.89214	3.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.85387	0.1123	10	0.66056	D	0.02	.	9.5672	0.39405	0.1554:0.0:0.8446:0.0	.	371;346	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	F	346;371	ENSP00000422581:S346F;ENSP00000317498:S371F	ENSP00000317498:S371F	S	-	2	0	TRIML2	189249648	0.996000	0.38824	0.969000	0.41365	0.020000	0.10135	2.649000	0.46656	2.941000	0.99782	0.655000	0.94253	TCC	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	protein_coding	OTTHUMT00000359733.1	G	NM_173553	-		189012654	-1	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	SNP	0.965	A	A	189012654	G	A	189012654	3	1	112	1	0	0	0	0	1	0	0	0	16558	1174	41	2	130	2	TRIML2	4	189012654	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1841104	189012654	2141622	343	7838											
SLC6A18	348932	genome.wustl.edu	37	chr5	1244846	1244846	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacatcatcctcctgttctgGaagccactgagatacaaggc	8	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:1244846G>A	ENST00000324642.3	+	11	1743	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	540					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTGTTCTGGAAGCCACTGA	0.622																																																	0								ENSG00000164363						77	73	75					5																	1244846		2203	4300	6503	SLC6A18	SO:0001587	stop_gained	0			-	HGNC	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1620G>A	5.37:g.1244846G>A	ENSP00000323549:p.Trp540*	Somatic	0	96	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	43	48.81		Nonsense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.W540*	ENST00000324642.3	37	c.1620	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679728	0.47886	.	.	ENSG00000164363	ENST00000324642	.	.	.	4.35	-2.02	0.07388	.	2.485370	0.01773	N	0.031296	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.6316	0.28243	0.1753:0.3787:0.446:0.0	.	.	.	.	X	540	.	ENSP00000323549:W540X	W	+	3	0	SLC6A18	1297846	0.002000	0.14202	0.000000	0.03702	0.028000	0.11728	1.186000	0.32078	-0.320000	0.08640	0.491000	0.48974	TGG	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	protein_coding	OTTHUMT00000206728.3	G	NM_182632	-		1244846	1	no_errors	ENST00000324642	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	1244846	G	A	1244846	4	1	112	1	0	0	0	0	0	1	0	0	14689	1183	41	2	1662	2	SLC6A18	5	1244846	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		1244846	179670414	344	7839											
DNAH5	1767	genome.wustl.edu	37	chr5	13735348	13735348	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcctcgtacagccctcGggcagcatacttataaacct	8	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:13735348G>A	ENST00000265104.4	-	68	11757	c.11653C>T	c.(11653-11655)Cga>Tga	p.R3885*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3885					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)					TACAGCCCTCGGGCAGCATAC	0.448									Kartagener syndrome																																								0								ENSG00000039139						118	104	108					5																	13735348		2203	4300	6503	DNAH5	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.11653C>T	5.37:g.13735348G>A	ENSP00000265104:p.Arg3885*	Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	38	51.28	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3885*	ENST00000265104.4	37	c.11653	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	54	21.850854	0.99943	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.9	5.01	0.66863	.	0.065612	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9084	0.63850	0.0:0.0:0.7227:0.2773	.	.	.	.	X	3885	.	ENSP00000265104:R3885X	R	-	1	2	DNAH5	13788348	0.994000	0.37717	0.116000	0.21606	0.986000	0.74619	2.594000	0.46189	1.464000	0.47987	0.650000	0.86243	CGA	-	NULL		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13735348	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	nonsense	SNP	0.937	A	A	13735348	G	A	13735348	4	1	112	1	0	0	0	0	0	1	0	0	4606	1124	39	1	2269	1	DNAH5	5	13735348	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	12490502	13735348	167179912	345	7840											
DNAH5	1767	genome.wustl.edu	37	chr5	13770872	13770872	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttacctgttggccagggtCcgcacctccacatgcttttc	8	15	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:13770872C>T	ENST00000265104.4	-	56	9695	c.9591G>A	c.(9589-9591)cgG>cgA	p.R3197R	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {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.R3197R(2)		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)					TGGCCAGGGTCCGCACCTCCA	0.463									Kartagener syndrome																																								2	Substitution - coding silent(2)	lung(1)|skin(1)						ENSG00000039139						83	78	80					5																	13770872		2203	4300	6503	DNAH5	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.9591G>A	5.37:g.13770872C>T		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	47.50	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3197	ENST00000265104.4	37	c.9591	CCDS3882.1	5																																																																																			-	superfamily_P-loop_NTPase		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	C	NM_001369	-		13770872	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	SNP	0.994	T	T	13770872	C	T	13770872	2	4	112	1	0	0	0	0	0	0	0	1	4606	842	30	2		2	DNAH5	5	13770872	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	35524	13770872	167144388	346	7841											
FBXL7	23194	genome.wustl.edu	37	chr5	15937163	15937163	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accggccagggcttgcagatCgtggccgccaactgctttga	13	13	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:15937163C>T	ENST00000504595.1	+	4	1825	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	FBXL7_ENST00000510662.1_Silent_p.I401I|FBXL7_ENST00000329673.7_Silent_p.I436I|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	448					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)			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						GCTTGCAGATCGTGGCCGCCA	0.627																																																	0								ENSG00000183580						43	48	46					5																	15937163		2070	4205	6275	FBXL7	SO:0001819	synonymous_variant	0			-	HGNC	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.1344C>T	5.37:g.15937163C>T		Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	12	57.14	B9EGF1|D6RDY7|O94926	Silent	SNP							pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.I448	ENST00000504595.1	37	c.1344	CCDS54833.1	5																																																																																			-	smart_Leu-rich_rpt_Cys-con_subtyp		0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	protein_coding	OTTHUMT00000366117.1	C	NM_012304	-		15937163	1	no_errors	ENST00000504595	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15937163	C	T	15937163	2	4	112	1	0	0	0	0	0	0	0	1	5726	874	31	1		1	FBXL7	5	15937163	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2166291	15937163	164978097	347	7842											
NPR3	4883	genome.wustl.edu	37	chr5	32724867	32724867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggcgcacaggcatgGcatgaccagtggagactacg	16	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:32724867G>A	ENST00000265074.8	+	2	1176	c.833G>A	c.(832-834)gGc>gAc	p.G278D	NPR3_ENST00000434067.2_Missense_Mutation_p.G62D|NPR3_ENST00000415685.2_Missense_Mutation_p.G62D|NPR3_ENST00000415167.2_Missense_Mutation_p.G278D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	278					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CACAGGCATGGCATGACCAGT	0.537																																																	0								ENSG00000113389						203	210	207					5																	32724867		2197	4291	6488	NPR3	SO:0001583	missense	0			-	HGNC		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.833G>A	5.37:g.32724867G>A	ENSP00000265074:p.Gly278Asp	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	12	57.14	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.G278D	ENST00000265074.8	37	c.833	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311865	0.81358	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;1.42;1.42	5.37	4.48	0.54585	Extracellular ligand-binding receptor (1);	0.210963	0.50627	D	0.000104	D	0.88187	0.6369	M	0.78916	2.43	0.36009	D	0.837927	D;D;D;D	0.76494	0.999;0.996;0.998;0.998	D;P;P;P	0.64506	0.926;0.9;0.9;0.9	D	0.90599	0.4543	10	0.38643	T	0.18	-24.4736	14.858	0.70355	0.0:0.0:0.8549:0.1451	.	62;62;278;278	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	D	55;62;62;278;278	ENSP00000425325:G55D;ENSP00000388408:G62D;ENSP00000402490:G62D;ENSP00000265074:G278D;ENSP00000398028:G278D	ENSP00000265074:G278D	G	+	2	0	NPR3	32760624	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.142000	0.58044	1.186000	0.42985	0.655000	0.94253	GGC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	protein_coding	OTTHUMT00000317550.3	G	NM_000908	-		32724867	1	no_errors	ENST00000265074	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32724867	G	A	32724867	3	1	112	1	0	0	0	0	1	0	0	0	10598	1203	42	2	839	2	NPR3	5	32724867	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	16787704	32724867	148190393	348	7843											
AGXT2	64902	genome.wustl.edu	37	chr5	35025909	35025909	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccccttgctcgcaccagctCaaaggcttcctttagaaacc	6	16	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35025909C>T	ENST00000231420.6	-	9	1122	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	308					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)	CGCACCAGCTCAAAGGCTTCC	0.493																																																	0								ENSG00000113492						94	89	91					5																	35025909		2203	4300	6503	AGXT2	SO:0001583	missense	0			-	HGNC	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.922G>A	5.37:g.35025909C>T	ENSP00000231420:p.Glu308Lys	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	55	23.61	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP							pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.E308K	ENST00000231420.6	37	c.922	CCDS3908.1	5	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265327	0.40095	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.62	-7.44	0.01379	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.000120	0.08080	N	1.000000	T	0.13970	0.0338	L	0.31476	0.935	0.20873	N	0.999834	B;B	0.20368	0.044;0.001	B;B	0.28011	0.085;0.006	T	0.38265	-0.9669	10	0.23891	T	0.37	-22.114	11.9176	0.52774	0.0:0.1132:0.4603:0.4265	.	308;308	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	308	ENSP00000231420:E308K	ENSP00000231420:E308K	E	-	1	0	AGXT2	35061666	0.003000	0.15002	0.190000	0.23270	0.777000	0.43975	-0.979000	0.03774	-1.370000	0.02144	-0.345000	0.07892	GAG	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase		0.493	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	protein_coding	OTTHUMT00000207574.2	C	NM_031900	-		35025909	-1	no_errors	ENST00000231420	ensembl	human	known	74_37	missense	SNP	0.029	T	T	35025909	C	T	35025909	3	4	112	1	0	0	0	0	1	0	0	0	405	835	29	2	646	2	AGXT2	5	35025909	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2301042	35025909	145889351	349	7844											
PRLR	5618	genome.wustl.edu	37	chr5	35068970	35068970	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccacacggttgtatcattCatggtgaagtctaaaaaaca	7	8	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35068970C>T	ENST00000382002.5	-	8	1122	c.696G>A	c.(694-696)atG>atA	p.M232I	PRLR_ENST00000509934.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.M131I|PRLR_ENST00000513753.1_Missense_Mutation_p.M232I|PRLR_ENST00000542609.1_Missense_Mutation_p.M232I|PRLR_ENST00000231423.3_Missense_Mutation_p.M232I|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.M232I|PRLR_ENST00000511486.1_Missense_Mutation_p.M131I|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	232					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TTGTATCATTCATGGTGAAGT	0.408																																																	0								ENSG00000113494						103	95	98					5																	35068970		2203	4300	6503	PRLR	SO:0001583	missense	0			-	HGNC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.696G>A	5.37:g.35068970C>T	ENSP00000371432:p.Met232Ile	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP							pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.M232I	ENST00000382002.5	37	c.696	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	6.601	0.479183	0.12581	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;D;T;D;T	0.87334	-0.92;-0.86;-0.89;-2.24;-1.29;-2.24;-0.9	5.76	3.97	0.46021	.	0.564982	0.20475	N	0.091617	T	0.81187	0.4770	L	0.57536	1.79	0.25798	N	0.984541	B;B;B;B	0.27117	0.105;0.168;0.004;0.004	B;B;B;B	0.22880	0.03;0.042;0.006;0.01	T	0.66276	-0.5964	10	0.21014	T	0.42	-9.0E-4	6.7167	0.23308	0.1444:0.699:0.0:0.1566	.	232;131;232;232	P16471;P16471-2;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	I	232;232;232;131;232;131;232	ENSP00000231423:M232I;ENSP00000424841:M232I;ENSP00000441813:M232I;ENSP00000339213:M131I;ENSP00000371432:M232I;ENSP00000422556:M131I;ENSP00000309008:M232I	ENSP00000231423:M232I	M	-	3	0	PRLR	35104727	0.993000	0.37304	0.026000	0.17262	0.176000	0.22953	1.967000	0.40491	0.882000	0.36016	0.655000	0.94253	ATG	-	NULL		0.408	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	protein_coding	OTTHUMT00000207575.2	C		-		35068970	-1	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	SNP	0.716	T	T	35068970	C	T	35068970	3	4	112	1	0	0	0	0	1	0	0	0	12536	826	29	2	1184	2	PRLR	5	35068970	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	43061	35068970	145846290	350	7845											
PRLR	5618	genome.wustl.edu	37	chr5	35084606	35084606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccacataaagttcatccgaGaaactgcttcccatctggtt	6	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35084606G>A	ENST00000382002.5	-	5	765	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000513753.1_Silent_p.F113F|PRLR_ENST00000542609.1_Silent_p.F113F|PRLR_ENST00000231423.3_Silent_p.F113F|PRLR_ENST00000348262.3_Silent_p.F113F|PRLR_ENST00000310101.5_Silent_p.F113F|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000397391.3_Silent_p.F42F	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	113	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTTCATCCGAGAAACTGCTTC	0.478																																																	0								ENSG00000113494						243	226	231					5																	35084606		2203	4300	6503	PRLR	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.339C>T	5.37:g.35084606G>A		Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	81	22.12	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP							pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.F113	ENST00000382002.5	37	c.339	CCDS3909.1	5																																																																																			-	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	protein_coding	OTTHUMT00000207575.2	G		-		35084606	-1	no_errors	ENST00000382002	ensembl	human	known	74_37	silent	SNP	0.183	A	A	35084606	G	A	35084606	2	1	112	1	0	0	0	0	0	0	0	1	12536	933	33	2		2	PRLR	5	35084606	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	15636	35084606	145830654	351	7846											
PRLR	5618	genome.wustl.edu	37	chr5	35086389	35086389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccagcaggtgaatgtttCcttattgggagaacgacatt	10	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35086389C>T	ENST00000382002.5	-	4	550	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.E42K|PRLR_ENST00000542609.1_Missense_Mutation_p.E42K|PRLR_ENST00000231423.3_Missense_Mutation_p.E42K|PRLR_ENST00000348262.3_Missense_Mutation_p.E42K|PRLR_ENST00000310101.5_Missense_Mutation_p.E42K|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	42	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTGAATGTTTCCTTATTGGGA	0.458																																																	0								ENSG00000113494						107	100	102					5																	35086389		2203	4300	6503	PRLR	SO:0001583	missense	0			-	HGNC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.124G>A	5.37:g.35086389C>T	ENSP00000371432:p.Glu42Lys	Somatic	0	120	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	60	42.86	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP							pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E42K	ENST00000382002.5	37	c.124	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.575211	0.96553	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330;ENST00000504500	T;T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.75	5.75	0.90469	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.044434	0.85682	D	0.000000	T	0.80763	0.4685	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.998	T	0.82248	-0.0551	10	0.87932	D	0	-16.6611	18.7	0.91617	0.0:1.0:0.0:0.0	.	42;42;42;42	P16471;P16471-7;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	K	42	ENSP00000231423:E42K;ENSP00000424841:E42K;ENSP00000311613:E42K;ENSP00000441813:E42K;ENSP00000371432:E42K;ENSP00000309008:E42K;ENSP00000423493:E42K;ENSP00000427060:E42K;ENSP00000422385:E42K;ENSP00000422867:E42K	ENSP00000231423:E42K	E	-	1	0	PRLR	35122146	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.724000	0.74747	2.718000	0.92993	0.561000	0.74099	GAA	-	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	protein_coding	OTTHUMT00000207575.2	C		-		35086389	-1	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35086389	C	T	35086389	3	4	112	1	0	0	0	0	1	0	0	0	12536	864	30	2	1772	2	PRLR	5	35086389	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1783	35086389	145828871	352	7847											
WDR70	55100	genome.wustl.edu	37	chr5	37752596	37752596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcttttaggactcagcCcaaaaccatgtttgcccaag	6	12	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:37752596C>T	ENST00000265107.4	+	18	2042	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	629							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGACTCAGCCCAAAACCATG	0.353																																																	0								ENSG00000082068						90	88	89					5																	37752596		2203	4300	6503	WDR70	SO:0001583	missense	0			-	HGNC	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1886C>T	5.37:g.37752596C>T	ENSP00000265107:p.Pro629Leu	Somatic	0	98	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	90	20.35	Q9H053	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P629L	ENST00000265107.4	37	c.1886	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585161	0.86748	.	.	ENSG00000082068	ENST00000265107	D	0.87412	-2.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95164	0.8284	10	0.87932	D	0	-50.4988	19.4518	0.94871	0.0:1.0:0.0:0.0	.	629	Q9NW82	WDR70_HUMAN	L	629	ENSP00000265107:P629L	ENSP00000265107:P629L	P	+	2	0	WDR70	37788353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.454000	0.66651	2.764000	0.94973	0.650000	0.86243	CCC	-	NULL		0.353	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	protein_coding	OTTHUMT00000368294.1	C	NM_018034	-		37752596	1	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37752596	C	T	37752596	3	4	112	1	0	0	0	0	1	0	0	0	17328	623	22	2	1956	2	WDR70	5	37752596	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2666207	37752596	143162664	353	7848											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41005013	41005013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcttccaaaggattggttCcttcatgagctgaaataatc	8	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:41005013C>T	ENST00000399564.4	-	36	4324	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1292																	AGGATTGGTTCCTTCATGAGC	0.493																																																	0								ENSG00000171495						89	85	86					5																	41005013		1991	4161	6152	MROH2B	SO:0001583	missense	0			-	HGNC		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.3874G>A	5.37:g.41005013C>T	ENSP00000382476:p.Glu1292Lys	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	60	25.93	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.E1292K	ENST00000399564.4	37	c.3874	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024365	0.75390	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66638	-0.22;-0.22	6.0	6.0	0.97389	Armadillo-type fold (1);	3.322900	0.00424	N	0.000065	T	0.68769	0.3037	L	0.54323	1.7	0.38850	D	0.956241	B	0.30236	0.274	B	0.31751	0.135	T	0.45205	-0.9277	10	0.12766	T	0.61	.	16.0001	0.80288	0.0:1.0:0.0:0.0	.	1292	Q7Z745	HTRB2_HUMAN	K	847;997;1292	ENSP00000441504:E847K;ENSP00000382476:E1292K	ENSP00000296803:E997K	E	-	1	0	HEATR7B2	41040770	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.856000	0.98102	0.643000	0.83706	GAA	-	superfamily_ARM-type_fold		0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	C	NM_173489	-		41005013	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41005013	C	T	41005013	3	4	112	1	0	0	0	0	1	0	0	0	7037	864	30	2	911	2	HEATR7B2	5	41005013	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3252417	41005013	139910247	354	7849											
FGF10	2255	genome.wustl.edu	37	chr5	44305142	44305142	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgagcagaggtgtttttCcttcgtgttttctgtcctct	10	8	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:44305142C>T	ENST00000264664.4	-	3	696	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	194					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|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 migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGTGTTTTTCCTTCGTGTTT	0.438																																																	0								ENSG00000070193						289	249	263					5																	44305142		2203	4300	6503	FGF10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.582G>A	5.37:g.44305142C>T		Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	64	37.86	C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R194	ENST00000264664.4	37	c.582	CCDS3950.1	5																																																																																			-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.438	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	protein_coding	OTTHUMT00000253845.2	C	NM_004465	-		44305142	-1	no_errors	ENST00000264664	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44305142	C	T	44305142	2	4	112	1	0	0	0	0	0	0	0	1	5841	854	30	2		2	FGF10	5	44305142	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3300129	44305142	136610118	355	7850											
ITGA2	3673	genome.wustl.edu	37	chr5	52340882	52340882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaccaacatgagcctcgGcttgatcctcaccaggaaca	8	13	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:52340882G>A	ENST00000296585.5	+	4	490	c.347G>A	c.(346-348)gGc>gAc	p.G116D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	116					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGAGCCTCGGCTTGATCCTC	0.368																																																	0								ENSG00000164171						106	99	101					5																	52340882		2203	4300	6503	ITGA2	SO:0001583	missense	0			-	HGNC		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.347G>A	5.37:g.52340882G>A	ENSP00000296585:p.Gly116Asp	Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	22	50.00	Q14595	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G116D	ENST00000296585.5	37	c.347	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509618	0.85282	.	.	ENSG00000164171	ENST00000296585	D	0.94138	-3.36	5.54	5.54	0.83059	.	0.052681	0.85682	D	0.000000	D	0.97337	0.9129	M	0.89904	3.07	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.977	D	0.97794	1.0240	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	116;116	E7ESP4;P17301	.;ITA2_HUMAN	D	116	ENSP00000296585:G116D	ENSP00000296585:G116D	G	+	2	0	ITGA2	52376639	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.783000	0.75078	2.779000	0.95612	0.655000	0.94253	GGC	-	NULL		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	protein_coding	OTTHUMT00000253857.2	G	NM_002203	-		52340882	1	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52340882	G	A	52340882	3	1	112	1	0	0	0	0	1	0	0	0	7877	1203	42	2	361	2	ITGA2	5	52340882	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8035740	52340882	128574378	356	7851											
DHX29	54505	genome.wustl.edu	37	chr5	54593193	54593193	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgctcattgatcactccaaTaattctttgctctagtttgt	5	9	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:54593193T>A	ENST00000251636.5	-	3	443	c.295A>T	c.(295-297)Att>Ttt	p.I99F	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	99						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATCACTCCAATAATTCTTTGC	0.294																																																	0								ENSG00000067248						137	128	131					5																	54593193		2201	4300	6501	DHX29	SO:0001583	missense	0			-	HGNC	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.295A>T	5.37:g.54593193T>A	ENSP00000251636:p.Ile99Phe	Somatic	0	118	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	26	56.67	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I99F	ENST00000251636.5	37	c.295	CCDS34158.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.982415|3.982415	0.74474|0.74474	.|.	.|.	ENSG00000067248|ENSG00000067248	ENST00000251636|ENST00000508346	T|.	0.45668|.	0.89|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.046228|.	0.85682|.	D|.	0.000000|.	T|T	0.70527|0.70527	0.3234|0.3234	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|T	0.69232|0.69232	-0.5199|-0.5199	10|5	0.42905|.	T|.	0.14|.	.|.	15.4773|15.4773	0.75493|0.75493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	99|.	Q7Z478|.	DHX29_HUMAN|.	F|F	99|63	ENSP00000251636:I99F|.	ENSP00000251636:I99F|.	I|Y	-|-	1|2	0|0	DHX29|DHX29	54628950|54628950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.998000|6.998000	0.76277|0.76277	2.133000|2.133000	0.65898|0.65898	0.482000|0.482000	0.46254|0.46254	ATT|TAT	-	NULL		0.294	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	protein_coding	OTTHUMT00000368532.1	T	NM_019030	-		54593193	-1	no_errors	ENST00000251636	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54593193	T	A	54593193	3	1	112	1	0	0	0	0	1	0	0	0	4505	1406	49	5	3914	5	DHX29	5	54593193	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2252311	54593193	126322067	357	7852											
DDX4	54514	genome.wustl.edu	37	chr5	55075804	55075804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattataggctatcgagatgGaaataattcagaagcttcag	9	6	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:55075804G>A	ENST00000505374.1	+	8	499	c.407G>A	c.(406-408)gGa>gAa	p.G136E	DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.G116E|RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	136	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TATCGAGATGGAAATAATTCA	0.403																																																	0								ENSG00000152670						130	121	124					5																	55075804		2203	4300	6503	DDX4	SO:0001583	missense	0			-	HGNC	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.407G>A	5.37:g.55075804G>A	ENSP00000424838:p.Gly136Glu	Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	9	65.38	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G136E	ENST00000505374.1	37	c.407	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621531	0.66787	.	.	ENSG00000152670	ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679;ENST00000511491	T;T;T;T;T;T	0.63417	2.02;2.0;3.54;0.79;-0.04;0.44	5.37	4.51	0.55191	.	0.274240	0.35466	N	0.003199	T	0.66723	0.2818	L	0.38531	1.155	0.37713	D	0.924623	P;D	0.89917	0.724;1.0	B;D	0.91635	0.274;0.999	T	0.68599	-0.5366	10	0.38643	T	0.18	-22.0906	8.0703	0.30685	0.1766:0.0:0.8234:0.0	.	116;136	D6RDK4;Q9NQI0	.;DDX4_HUMAN	E	116;136;116;110;136;136	ENSP00000425359:G116E;ENSP00000424838:G136E;ENSP00000427167:G116E;ENSP00000424779:G110E;ENSP00000424112:G136E;ENSP00000427522:G136E	ENSP00000424838:G136E	G	+	2	0	DDX4	55111561	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.445000	0.44899	1.509000	0.48786	0.650000	0.86243	GGA	-	NULL		0.403	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	protein_coding	OTTHUMT00000214147.2	G	NM_024415	-		55075804	1	no_errors	ENST00000505374	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55075804	G	A	55075804	3	1	112	1	0	0	0	0	1	0	0	0	4362	1174	41	2	474	2	DDX4	5	55075804	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	482611	55075804	125839456	358	7853											
CMYA5	202333	genome.wustl.edu	37	chr5	79031081	79031081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccaaaggtggctaagccgGaccttcctgaggaaaaggga	13	9	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:79031081G>A	ENST00000446378.2	+	2	6524	c.6493G>A	c.(6493-6495)Gac>Aac	p.D2165N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2165					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)		GGCTAAGCCGGACCTTCCTGA	0.458																																																	0								ENSG00000164309						68	66	67					5																	79031081		1875	4114	5989	CMYA5	SO:0001583	missense	0			-	HGNC	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.6493G>A	5.37:g.79031081G>A	ENSP00000394770:p.Asp2165Asn	Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.D2165N	ENST00000446378.2	37	c.6493	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496582	0.44352	.	.	ENSG00000164309	ENST00000446378	T	0.16743	2.32	6.16	-3.74	0.04385	.	2.178270	0.01684	N	0.026317	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	1	B	0.27068	0.167	B	0.19148	0.024	T	0.15492	-1.0435	10	0.48119	T	0.1	.	1.3611	0.02191	0.389:0.1032:0.2968:0.2109	.	2165	Q8N3K9	CMYA5_HUMAN	N	2165	ENSP00000394770:D2165N	ENSP00000394770:D2165N	D	+	1	0	CMYA5	79066837	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.159000	0.16442	-0.839000	0.04212	0.650000	0.86243	GAC	-	NULL		0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	G	NM_153610	-		79031081	1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	SNP	0.000	A	A	79031081	G	A	79031081	3	1	112	1	0	0	0	0	1	0	0	0	3592	1174	41	2	6499	2	CMYA5	5	79031081	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	23955277	79031081	101884179	359	7854											
EDIL3	10085	genome.wustl.edu	37	chr5	83362411	83362411	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaccagtaactctcattttCctttgcaaatttatctgaaa	3	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:83362411C>T	ENST00000296591.5	-	7	1084	c.666G>A	c.(664-666)agG>agA	p.R222R	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.R212R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	222	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)		CTCTCATTTTCCTTTGCAAAT	0.338																																																	0								ENSG00000164176						96	103	101					5																	83362411		2203	4300	6503	EDIL3	SO:0001819	synonymous_variant	0			-	HGNC	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.666G>A	5.37:g.83362411C>T		Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	30	60.53	B2R763|O43855|Q5D094|Q8N610	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R222	ENST00000296591.5	37	c.666	CCDS4062.1	5																																																																																			-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.338	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	protein_coding	OTTHUMT00000239258.1	C	NM_005711	-		83362411	-1	no_errors	ENST00000296591	ensembl	human	known	74_37	silent	SNP	0.991	T	T	83362411	C	T	83362411	2	4	112	1	0	0	0	0	0	0	0	1	4917	854	30	2		2	EDIL3	5	83362411	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4331330	83362411	97552849	360	7855											
ANKRD32	84250	genome.wustl.edu	37	chr5	94001632	94001632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcttcacctgcatcctCcttggaagtctccagccatg	6	16	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:94001632C>T	ENST00000265140.5	+	12	1854	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	479						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CCTGCATCCTCCTTGGAAGTC	0.348																																																	0								ENSG00000133302						212	172	184					5																	94001632		692	1591	2283	ANKRD32	SO:0001583	missense	0			-	HGNC	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1435C>T	5.37:g.94001632C>T	ENSP00000265140:p.Pro479Ser	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P479S	ENST00000265140.5	37	c.1435	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298605	0.60195	.	.	ENSG00000133302	ENST00000265140	T	0.74002	-0.8	5.41	4.55	0.56014	.	0.091308	0.42053	N	0.000770	T	0.69079	0.3071	L	0.50333	1.59	0.36058	D	0.841248	B	0.28880	0.226	B	0.26614	0.071	T	0.74884	-0.3512	10	0.87932	D	0	.	13.909	0.63855	0.0:0.9267:0.0:0.0732	.	479	Q9BQI6	ANR32_HUMAN	S	479	ENSP00000265140:P479S	ENSP00000265140:P479S	P	+	1	0	ANKRD32	94027388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.728000	0.54991	1.273000	0.44346	0.585000	0.79938	CCT	-	NULL		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	protein_coding	OTTHUMT00000241610.1	C	NM_032290	-		94001632	1	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94001632	C	T	94001632	3	4	112	1	0	0	0	0	1	0	0	0	660	855	30	2	1477	2	ANKRD32	5	94001632	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10639221	94001632	86913628	361	7856											
MCTP1	79772	genome.wustl.edu	37	chr5	94259673	94259673	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttagacattaccctccaAaagagagacttcacagagaa	7	9	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:94259673A>G	ENST00000515393.1	-	7	1265	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F	MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000312216.8_Silent_p.F201F|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505208.1_Silent_p.F201F	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	422					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCCTCCAAAAGAGAGACT	0.294																																																	0								ENSG00000175471						62	62	62					5																	94259673		2202	4298	6500	MCTP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1266T>C	5.37:g.94259673A>G		Somatic	0	83	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	31	59.21	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP							pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.F422	ENST00000515393.1	37	c.1266	CCDS34203.1	5																																																																																			-	NULL		0.294	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	protein_coding	OTTHUMT00000370280.3	A	NM_024717	-		94259673	-1	no_errors	ENST00000515393	ensembl	human	known	74_37	silent	SNP	1.000	G	G	94259673	A	G	94259673	2	3	112	1	0	0	0	0	0	0	0	1	9402	11	1	5		5	MCTP1	5	94259673	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	258041	94259673	86655587	362	7857											
MCTP1	79772	genome.wustl.edu	37	chr5	94275850	94275850	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcaaaatgattccaagatCatggtcaggataatgaggat	11	5	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:94275850C>T	ENST00000515393.1	-	5	1110	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MCTP1_ENST00000312216.8_Missense_Mutation_p.D150N|MCTP1_ENST00000429576.2_Missense_Mutation_p.D150N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D150N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	371					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATTCCAAGATCATGGTCAGGA	0.418																																																	0								ENSG00000175471						166	168	167					5																	94275850		2203	4300	6503	MCTP1	SO:0001583	missense	0			-	HGNC		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1111G>A	5.37:g.94275850C>T	ENSP00000424126:p.Asp371Asn	Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	16	68.63	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP							pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.D371N	ENST00000515393.1	37	c.1111	CCDS34203.1	5	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475559	0.43942	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568;ENST00000415885;ENST00000507214;ENST00000514780	T;T;T;T;T;T;T;T;T	0.78707	-0.22;-0.22;-0.22;-0.22;-1.2;-0.22;-1.19;-0.22;-0.22	5.63	4.75	0.60458	C2 calcium/lipid-binding domain, CaLB (1);	0.232847	0.45361	D	0.000370	T	0.60996	0.2312	N	0.20685	0.6	0.49687	D	0.999816	B;B;B	0.19073	0.021;0.033;0.009	B;B;B	0.22753	0.022;0.034;0.041	T	0.53697	-0.8402	10	0.14656	T	0.56	-9.1785	9.4388	0.38655	0.152:0.7768:0.0:0.0712	.	371;150;150	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	N	371;150;150;150;32;150;11;112;132;131	ENSP00000424126:D371N;ENSP00000391639:D150N;ENSP00000308957:D150N;ENSP00000423410:D150N;ENSP00000431075:D32N;ENSP00000426438:D150N;ENSP00000426294:D11N;ENSP00000424936:D132N;ENSP00000421543:D131N	ENSP00000308957:D150N	D	-	1	0	MCTP1	94301606	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	2.078000	0.41567	1.473000	0.48159	0.563000	0.77884	GAT	-	superfamily_C2_dom		0.418	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	protein_coding	OTTHUMT00000370280.3	C	NM_024717	-		94275850	-1	no_errors	ENST00000515393	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94275850	C	T	94275850	3	4	112	1	0	0	0	0	1	0	0	0	9402	826	29	2	1964	2	MCTP1	5	94275850	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	16177	94275850	86639410	363	7858											
PCSK1	5122	genome.wustl.edu	37	chr5	95757591	95757591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catatttactcacttgttctCgtttgtgggatcatatcggg	9	8	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:95757591C>T	ENST00000311106.3	-	5	850	c.613G>A	c.(613-615)Gag>Aag	p.E205K	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.E158K	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	205	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E205*(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CACTTGTTCTCGTTTGTGGGA	0.338																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000175426						151	150	150					5																	95757591		2203	4300	6503	PCSK1	SO:0001583	missense	0			-	HGNC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.613G>A	5.37:g.95757591C>T	ENSP00000308024:p.Glu205Lys	Somatic	0	119	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E205K	ENST00000311106.3	37	c.613	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.415446	0.96092	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.87412	-2.25;-2.25	5.82	5.82	0.92795	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	L	0.42245	1.32	0.80722	D	1	P	0.51933	0.949	B	0.42555	0.391	D	0.86371	0.1723	10	0.56958	D	0.05	-25.3147	19.6917	0.96005	0.0:1.0:0.0:0.0	.	205	P29120	NEC1_HUMAN	K	205;158	ENSP00000308024:E205K;ENSP00000421600:E158K	ENSP00000308024:E205K	E	-	1	0	PCSK1	95783347	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.252000	0.78309	2.751000	0.94390	0.650000	0.86243	GAG	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel		0.338	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	protein_coding	OTTHUMT00000242851.1	C	NM_000439	-		95757591	-1	no_errors	ENST00000311106	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95757591	C	T	95757591	3	4	112	1	0	0	0	0	1	0	0	0	11602	893	31	1	1688	1	PCSK1	5	95757591	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1481741	95757591	85157669	364	7859											
FAM174A	345757	genome.wustl.edu	37	chr5	99897866	99897868	+	In_Frame_Del	DEL	GTT	GTT	-													gatgaggatgatgacaacacGttgtttgatgccaatcatcc					rs6874840	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GTT	GTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:99897866_99897868delGTT	ENST00000312637.4	+	2	769_771	c.543_545delGTT	c.(541-546)acgttg>acg	p.L182del	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	182						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATGACAACACGTTGTTTGATGCC	0.384																																																	0								ENSG00000174132																																			FAM174A	SO:0001651	inframe_deletion	0				HGNC	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"transmembrane protein 157"	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.543_545delGTT	5.37:g.99897869_99897871delGTT	ENSP00000307954:p.Leu182del	Somatic	0	138	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	46	52.58	A8K0H4	In_Frame_Del	DEL							pfam_DUF1180	p.L182in_frame_del	ENST00000312637.4	37	c.543_545	CCDS4090.1	5																																																																																			-	pfam_DUF1180		0.384	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	protein_coding	OTTHUMT00000250631.2	GTT	NM_198507			99897868	1	no_errors	ENST00000312637	ensembl	human	known	74_37	in_frame_del	DEL	0.765:0.773:0.936	-	-	99897868	GTT	-	99897866	7	5	112	1	0	1	0	1	0	0	0	0	5497	1132	40	0	549	0	FAM174A	5	99897866	In_Frame_Del	DEL	GTT	TCGA-DX-AB2E-01A-11D-A38Z-09	4140275	99897866	81017394	365	7860											
ST8SIA4	7903	genome.wustl.edu	37	chr5	100231446	100231446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctttcgaatgattttatCagagctattgacaagtgacc	8	8	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:100231446C>T	ENST00000231461.5	-	2	467	c.157G>A	c.(157-159)Gat>Aat	p.D53N	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.D53N	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	53					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)		ATGATTTTATCAGAGCTATTG	0.373																																																	0								ENSG00000113532						114	111	112					5																	100231446		2203	4299	6502	ST8SIA4	SO:0001583	missense	0			-	HGNC	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.157G>A	5.37:g.100231446C>T	ENSP00000231461:p.Asp53Asn	Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.D53N	ENST00000231461.5	37	c.157	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414538	0.42817	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.33216	2.18;1.42	6.06	5.02	0.67125	.	0.120167	0.56097	D	0.000036	T	0.16557	0.0398	N	0.08118	0	0.41705	D	0.989429	B	0.02656	0.0	B	0.01281	0.0	T	0.09443	-1.0674	10	0.15952	T	0.53	.	15.3419	0.74303	0.0:0.9225:0.0:0.0775	.	53	Q92187	SIA8D_HUMAN	N	53	ENSP00000231461:D53N;ENSP00000428914:D53N	ENSP00000231461:D53N	D	-	1	0	ST8SIA4	100259345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.041000	0.57339	2.871000	0.98454	0.655000	0.94253	GAT	-	pirsf_Sialyl_trans		0.373	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	protein_coding	OTTHUMT00000250632.3	C	NM_005668	-		100231446	-1	no_errors	ENST00000231461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100231446	C	T	100231446	3	4	112	1	0	0	0	0	1	0	0	0	15241	826	29	2	942	2	ST8SIA4	5	100231446	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	333580	100231446	80683814	366	7861											
SEMA6A	57556	genome.wustl.edu	37	chr5	115782667	115782667	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttatagtcaaccccgTaggaagaggagtggtgcatt	11	9	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:115782667T>A	ENST00000343348.6	-	19	3522	c.2735A>T	c.(2734-2736)tAc>tTc	p.Y912F	SEMA6A_ENST00000503865.1_Missense_Mutation_p.Y291F|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Y389F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Y929F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Y339F|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Y912F|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	912					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTCAACCCCGTAGGAAGAGGA	0.577																																																	0								ENSG00000092421						58	65	62					5																	115782667		1968	4164	6132	SEMA6A	SO:0001583	missense	0			-	HGNC	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2735A>T	5.37:g.115782667T>A	ENSP00000345512:p.Tyr912Phe	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	Q9P2H9	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.Y929F	ENST00000343348.6	37	c.2786	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.44|18.44	3.625031|3.625031	0.66901|0.66901	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.44881	.|2.27;2.27;0.91;2.74;0.92;2.27	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.393072	.|0.19623	.|N	.|0.109880	T|T	0.53400|0.53400	0.1794|0.1794	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D;D	.|0.76494	.|0.996;0.995;0.999;0.998;0.999;0.998	.|D;D;D;D;D;D	.|0.80764	.|0.98;0.966;0.993;0.994;0.993;0.987	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.12430	.|T	.|0.62	.|.	14.7568|14.7568	0.69572|0.69572	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|291;912;456;929;389;339	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	S|F	427|912;929;339;389;291;912	.|ENSP00000345512:Y912F;ENSP00000257414:Y929F;ENSP00000422997:Y339F;ENSP00000282394:Y389F;ENSP00000425364:Y291F;ENSP00000424388:Y912F	.|ENSP00000257414:Y929F	T|Y	-|-	1|2	0|0	SEMA6A|SEMA6A	115810566|115810566	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.991000|0.991000	0.79684|0.79684	7.634000|7.634000	0.83273|0.83273	1.972000|1.972000	0.57404|0.57404	0.460000|0.460000	0.39030|0.39030	ACG|TAC	-	NULL		0.577	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	protein_coding	OTTHUMT00000371270.1	T	NM_020796	-		115782667	-1	no_errors	ENST00000257414	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115782667	T	A	115782667	3	1	112	1	0	0	0	0	1	0	0	0	14047	1638	57	5	361	5	SEMA6A	5	115782667	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	15551221	115782667	65132593	367	7862											
SLC4A9	83697	genome.wustl.edu	37	chr5	139743761	139743761	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctttgagcgcctgctcttCtctttcagcaggtaggagag	12	10	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:139743761C>T	ENST00000230993.6	+	10	1484	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SLC4A9_ENST00000506757.2_Silent_p.F459F|SLC4A9_ENST00000506545.1_Silent_p.F459F|SLC4A9_ENST00000432095.2_Silent_p.F448F|SLC4A9_ENST00000507527.1_Silent_p.F483F	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	483	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTCTTCTCTTTCAGCA	0.617																																																	0								ENSG00000113073						48	48	48					5																	139743761		1906	4139	6045	SLC4A9	SO:0001819	synonymous_variant	0			-	HGNC	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1449C>T	5.37:g.139743761C>T		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.F483	ENST00000230993.6	37	c.1449	CCDS58973.1	5																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	C	NM_031467	-		139743761	1	no_errors	ENST00000230993	ensembl	human	known	74_37	silent	SNP	0.999	T	T	139743761	C	T	139743761	2	4	112	1	0	0	0	0	0	0	0	1	14668	912	32	2		2	SLC4A9	5	139743761	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	23961094	139743761	41171499	368	7863											
TMCO6	55374	genome.wustl.edu	37	chr5	140024304	140024304	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttggagctgctgcatctGctgttcctgtatcagccaga	11	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:140024304G>T	ENST00000394671.3	+	11	1448	c.1347G>T	c.(1345-1347)ctG>ctT	p.L449L	TMCO6_ENST00000537378.1_Silent_p.L209L|TMCO6_ENST00000252100.6_Silent_p.L455L|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	449					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCATCTGCTGTTCCTGT	0.572																																																	0								ENSG00000113119						155	151	152					5																	140024304		2002	4183	6185	TMCO6	SO:0001819	synonymous_variant	0			-	HGNC	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1347G>T	5.37:g.140024304G>T		Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q9BUU0|Q9P198	Silent	SNP							superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.L455	ENST00000394671.3	37	c.1365	CCDS4233.2	5																																																																																			-	superfamily_ARM-type_fold		0.572	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	protein_coding	OTTHUMT00000251666.2	G	NM_018502	-		140024304	1	no_errors	ENST00000252100	ensembl	human	known	74_37	silent	SNP	0.997	T	T	140024304	G	T	140024304	2	4	112	1	0	0	0	0	0	0	0	1	16007	1306	46	3		3	TMCO6	5	140024304	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	280543	140024304	40890956	369	7864											
PCDHB11	56125	genome.wustl.edu	37	chr5	140580852	140580852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcacctgcccctcgcctCcctggtctccatcaacacag	6	21	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:140580852C>T	ENST00000354757.3	+	1	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S137F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	502	Cadherin 5. {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(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)			CCCCTCGCCTCCCTGGTCTCC	0.642																																																	0								ENSG00000197479						112	119	117					5																	140580852		2203	4300	6503	PCDHB11	SO:0001583	missense	0			-	HGNC	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.1505C>T	5.37:g.140580852C>T	ENSP00000346802:p.Ser502Phe	Somatic	0	251	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	52	57.02	B4DSF7|Q2M223	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S502F	ENST00000354757.3	37	c.1505	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637352	0.67130	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.03181	4.02;4.02	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21347	0.0514	M	0.90082	3.085	0.37089	D	0.899363	D	0.89917	1.0	D	0.91635	0.999	T	0.37126	-0.9719	9	0.87932	D	0	.	13.0572	0.58988	0.0:1.0:0.0:0.0	.	502	Q9Y5F2	PCDBB_HUMAN	F	137;502	ENSP00000440344:S137F;ENSP00000346802:S502F	ENSP00000346802:S502F	S	+	2	0	PCDHB11	140561036	0.000000	0.05858	0.010000	0.14722	0.174000	0.22865	0.835000	0.27531	1.412000	0.46977	0.298000	0.19748	TCC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.642	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	C	NM_018931	-		140580852	1	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	SNP	0.943	T	T	140580852	C	T	140580852	3	4	112	1	0	0	0	0	1	0	0	0	11538	855	30	2	1507	2	PCDHB11	5	140580852	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	556548	140580852	40334408	370	7865											
JAKMIP2	9832	genome.wustl.edu	37	chr5	146971234	146971234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttcctgggatcttatcCatgttttcggttactctgca	8	10	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:146971234C>T	ENST00000265272.5	-	21	2895	c.2428G>A	c.(2428-2430)Gga>Aga	p.G810R	JAKMIP2_ENST00000507386.1_3'UTR|JAKMIP2_ENST00000333010.6_3'UTR	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	810						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCTTATCCATGTTTTCGG	0.328																																																	0								ENSG00000176049						145	128	133					5																	146971234		2203	4299	6502	JAKMIP2	SO:0001583	missense	0			-	HGNC	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2428G>A	5.37:g.146971234C>T	ENSP00000265272:p.Gly810Arg	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	17	60.47	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP							NULL	p.G810R	ENST00000265272.5	37	c.2428	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679191	0.47886	.	.	ENSG00000176049	ENST00000265272	T	0.23552	1.9	5.31	5.31	0.75309	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05115	-1.0905	9	0.87932	D	0	.	10.5635	0.45159	0.0:0.8815:0.0:0.1185	.	810	Q96AA8	JKIP2_HUMAN	R	810	ENSP00000265272:G810R	ENSP00000265272:G810R	G	-	1	0	JAKMIP2	146951427	0.971000	0.33674	0.978000	0.43139	0.796000	0.44982	2.061000	0.41403	2.637000	0.89404	0.563000	0.77884	GGA	-	NULL		0.328	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	protein_coding	OTTHUMT00000251941.1	C	NM_014790	-		146971234	-1	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	SNP	0.982	T	T	146971234	C	T	146971234	3	4	112	1	0	0	0	0	1	0	0	0	7943	603	21	2	8	2	JAKMIP2	5	146971234	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6390382	146971234	33944026	371	7866											
HTR4	3360	genome.wustl.edu	37	chr5	147889037	147889037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttagtacatgtgtggatCcattaatggttgtggttgaa	11	5	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:147889037C>T	ENST00000377888.3	-	6	1196	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	HTR4_ENST00000517929.1_Missense_Mutation_p.G353E|HTR4_ENST00000360693.3_Missense_Mutation_p.G353E|HTR4_ENST00000362016.2_Missense_Mutation_p.G367E|HTR4_ENST00000520514.1_Missense_Mutation_p.G353E|HTR4_ENST00000521530.1_Missense_Mutation_p.G353E|HTR4_ENST00000314512.6_Missense_Mutation_p.G353E|HTR4_ENST00000354217.2_Missense_Mutation_p.G353E|HTR4_ENST00000521735.1_Missense_Mutation_p.G353E	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	353					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	ATGTGTGGATCCATTAATGGT	0.448																																					GBM(120;370 1604 14007 17804 41573)												0								ENSG00000164270						95	82	86					5																	147889037		2203	4300	6503	HTR4	SO:0001583	missense	0			-	HGNC	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1058G>A	5.37:g.147889037C>T	ENSP00000367120:p.Gly353Glu	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.G353E	ENST00000377888.3	37	c.1058	CCDS4291.1	5	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469039	0.63625	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.71103	-0.5;-0.5;-0.54;-0.54;-0.53;-0.5;-0.52;-0.47;-0.39	5.79	5.79	0.91817	.	0.135896	0.64402	D	0.000002	D	0.83175	0.5197	M	0.66939	2.045	0.58432	D	0.999996	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.997;0.999;0.995	D;D;D;D;D;D;P	0.74348	0.937;0.935;0.962;0.983;0.951;0.971;0.894	T	0.82884	-0.0236	10	0.52906	T	0.07	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	353;353;353;367;353;353;353	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	E	353;353;353;353;353;353;353;353;367	ENSP00000428320:G353E;ENSP00000346156:G353E;ENSP00000314906:G353E;ENSP00000430979:G353E;ENSP00000435904:G353E;ENSP00000427913:G353E;ENSP00000367120:G353E;ENSP00000353915:G353E;ENSP00000355037:G367E	ENSP00000314906:G353E	G	-	2	0	HTR4	147869230	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.740000	0.93945	0.563000	0.77884	GGA	-	prints_5HT4_rcpt		0.448	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	protein_coding	OTTHUMT00000252187.2	C	NM_000870	-		147889037	-1	no_errors	ENST00000360693	ensembl	human	known	74_37	missense	SNP	1.000	T	T	147889037	C	T	147889037	3	4	112	1	0	0	0	0	1	0	0	0	7451	855	30	2	412	2	HTR4	5	147889037	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	917803	147889037	33026223	372	7867											
SLIT3	6586	genome.wustl.edu	37	chr5	168671750	168671750	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggaaggcgcctctctcGatgacgctgacctggttgtc	12	13	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:168671750G>A	ENST00000519560.1	-	3	719	c.300C>T	c.(298-300)atC>atT	p.I100I	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.I100I|SLIT3_ENST00000404867.3_Silent_p.I100I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	100					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCCTCTCTCGATGACGCTGA	0.468																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						96	79	85					5																	168671750		2203	4300	6503	SLIT3	SO:0001819	synonymous_variant	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.300C>T	5.37:g.168671750G>A		Somatic	0	28	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP							pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I100	ENST00000519560.1	37	c.300	CCDS4369.1	5																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.468	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168671750	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	SNP	0.995	A	A	168671750	G	A	168671750	2	1	112	1	0	0	0	0	0	0	0	1	14749	1048	37	1		1	SLIT3	5	168671750	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	20782713	168671750	12243510	373	7868											
KCNMB1	3779	genome.wustl.edu	37	chr5	169810766	169810766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgttgacccacaggcatgGgtactggggcaccttcttgc	12	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:169810766G>A	ENST00000274629.4	-	3	665	c.223C>T	c.(223-225)Cca>Tca	p.P75S	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.P75S	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	75					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CACAGGCATGGGTACTGGGGC	0.602																																																	0								ENSG00000145936						137	105	116					5																	169810766		2203	4300	6503	KCNMB1	SO:0001583	missense	0			-	HGNC	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.223C>T	5.37:g.169810766G>A	ENSP00000274629:p.Pro75Ser	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	19	62.75	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu	p.P75S	ENST00000274629.4	37	c.223	CCDS4373.1	5	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847989	0.71603	.	.	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.32753	1.44;1.44	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.77313	2.365	0.58432	D	0.999999	D;P	0.89917	1.0;0.568	D;B	0.91635	0.999;0.168	T	0.56763	-0.7925	9	.	.	.	.	15.3412	0.74300	0.0:0.0:1.0:0.0	.	75;75	Q16558-2;Q16558	.;KCMB1_HUMAN	S	75	ENSP00000274629:P75S;ENSP00000427940:P75S	.	P	-	1	0	KCNMB1	169743344	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.846000	0.75399	2.683000	0.91414	0.655000	0.94253	CCA	-	pfam_K_chnl_Ca-activ_BK_bsu		0.602	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB1	protein_coding	OTTHUMT00000252830.3	G		-		169810766	-1	no_errors	ENST00000274629	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169810766	G	A	169810766	3	1	112	1	0	0	0	0	1	0	0	0	8076	1232	43	2	360	2	KCNMB1	5	169810766	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1139016	169810766	11104494	374	7869											
UNC5A	90249	genome.wustl.edu	37	chr5	176301357	176301357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaggatgggcccagcCccaagttccagctcaccaat	10	17	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:176301357C>T	ENST00000329542.4	+	8	1442	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	UNC5A_ENST00000261961.3_Missense_Mutation_p.P350S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	390					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCCCAGCCCCAAGTTCCA	0.662																																																	0								ENSG00000113763						83	94	90					5																	176301357		2203	4300	6503	UNC5A	SO:0001583	missense	0			-	HGNC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1168C>T	5.37:g.176301357C>T	ENSP00000332737:p.Pro390Ser	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	23	47.73	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP							pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P390S	ENST00000329542.4	37	c.1168	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517252	0.44763	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.47528	0.84;1.17	5.34	4.44	0.53790	.	0.123942	0.37219	N	0.002197	T	0.27384	0.0672	N	0.08118	0	0.31205	N	0.699354	B;B	0.22480	0.07;0.017	B;B	0.21151	0.033;0.007	T	0.20773	-1.0265	10	0.40728	T	0.16	-33.8437	10.8809	0.46937	0.3416:0.6584:0.0:0.0	.	350;390	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	S	390;350	ENSP00000332737:P390S;ENSP00000261961:P350S	ENSP00000261961:P350S	P	+	1	0	UNC5A	176233963	0.968000	0.33430	1.000000	0.80357	0.936000	0.57629	1.111000	0.31159	1.196000	0.43129	0.484000	0.47621	CCC	-	NULL		0.662	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	protein_coding	OTTHUMT00000372166.1	C	XM_030300	-		176301357	1	no_errors	ENST00000329542	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176301357	C	T	176301357	3	4	112	1	0	0	0	0	1	0	0	0	16998	623	22	2	1198	2	UNC5A	5	176301357	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6490591	176301357	4613903	375	7870											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178585761	178585761	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaagtcctgccgtgtgagGaagatggcgtgatcgtggta	15	8	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:178585761G>A	ENST00000251582.7	-	6	1196	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	ADAMTS2_ENST00000274609.5_Silent_p.F365F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCCGTGTGAGGAAGATGGCGT	0.612																																																	0								ENSG00000087116						160	138	145					5																	178585761		2203	4300	6503	ADAMTS2	SO:0001819	synonymous_variant	0			-	HGNC	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1095C>T	5.37:g.178585761G>A		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	21	50.00		Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.F365	ENST00000251582.7	37	c.1095	CCDS4444.1	5																																																																																			-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	protein_coding	OTTHUMT00000253507.1	G	NM_014244	-		178585761	-1	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	SNP	0.998	A	A	178585761	G	A	178585761	2	1	112	1	0	0	0	0	0	0	0	1	265	1165	41	2		2	ADAMTS2	5	178585761	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2284404	178585761	2329499	376	7871											
DUSP22	56940	genome.wustl.edu	37	chr6	348136	348136	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaggagcgtgacactggtGatcgcatacatcatgaccgt	11	11	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:348136G>A	ENST00000344450.5	+	6	740	c.297G>A	c.(295-297)gtG>gtA	p.V99V	DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000419235.2_Silent_p.V99V	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	99	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGACACTGGTGATCGCATACA	0.602																																																	0								ENSG00000112679						185	171	176					6																	348136		2203	4300	6503	DUSP22	SO:0001819	synonymous_variant	0			-	HGNC	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.297G>A	6.37:g.348136G>A		Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	69	20.45	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.V99	ENST00000344450.5	37	c.297	CCDS4468.1	6	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277791	0.23307	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	1.95	0.26073	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20405	-1.0276	4	.	.	.	.	2.0983	0.03674	0.2588:0.1281:0.4816:0.1314	.	.	.	.	N	37	.	.	D	+	1	0	DUSP22	293136	1.000000	0.71417	0.953000	0.39169	0.822000	0.46500	1.133000	0.31430	0.763000	0.33175	0.655000	0.94253	GAT	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.602	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	protein_coding	OTTHUMT00000039621.1	G	NM_020185	-		348136	1	no_errors	ENST00000419235	ensembl	human	known	74_37	silent	SNP	1.000	A	A	348136	G	A	348136	2	1	112	1	0	0	0	0	0	0	0	1	4823	1277	45	2		2	DUSP22	6	348136	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		348136	170766931	377	7872											
NEDD9	4739	genome.wustl.edu	37	chr6	11185447	11185447	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaacagctgggcatttctaGaaaggtctgtcacttggtgc	12	8	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:11185447G>A	ENST00000379446.5	-	7	2619	c.2453C>T	c.(2452-2454)tCt>tTt	p.S818F	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.S818F	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	818					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGCATTTCTAGAAAGGTCTGT	0.512																																																	0								ENSG00000111859						86	82	84					6																	11185447		2203	4300	6503	NEDD9	SO:0001583	missense	0			-	HGNC	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2453C>T	6.37:g.11185447G>A	ENSP00000368759:p.Ser818Phe	Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	19	54.76	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP							pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S818F	ENST00000379446.5	37	c.2453	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672443	0.67928	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.25085	1.82;1.82	6.17	6.17	0.99709	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.97110	0.929;0.986;1.0	T	0.42068	-0.9473	10	0.87932	D	0	-27.5841	20.8794	0.99867	0.0:0.0:1.0:0.0	.	818;818;818	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	F	818	ENSP00000368759:S818F;ENSP00000422871:S818F	ENSP00000368759:S818F	S	-	2	0	NEDD9	11293433	1.000000	0.71417	0.750000	0.31169	0.289000	0.27227	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCT	-	pfam_CAS_DUF3513		0.512	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	protein_coding	OTTHUMT00000039853.2	G	NM_006403	-		11185447	-1	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11185447	G	A	11185447	3	1	112	1	0	0	0	0	1	0	0	0	10315	942	33	2	55	2	NEDD9	6	11185447	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10837311	11185447	159929620	378	7873											
GPLD1	2822	genome.wustl.edu	37	chr6	24447086	24447086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctggcattcttccaggtCgggctcccaaccaacagcaa	9	15	1	0	rs371832777		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:24447086C>T	ENST00000230036.1	-	18	1910	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	600					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TCTTCCAGGTCGGGCTCCCAA	0.577																																																	0								ENSG00000112293	C		0,4406		0,0,2203	83	72	75		1800	-10.8	0.1	6		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPLD1	NM_001503.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		600/841	24447086	1,13005	2203	4300	6503	GPLD1	SO:0001819	synonymous_variant	0			-	HGNC	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1800G>A	6.37:g.24447086C>T		Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	39	40.00	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP							pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.P600	ENST00000230036.1	37	c.1800	CCDS4553.1	6																																																																																			-	smart_Int_alpha_beta-p		0.577	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	protein_coding	OTTHUMT00000043315.1	C	NM_001503	-		24447086	-1	no_errors	ENST00000230036	ensembl	human	known	74_37	silent	SNP	0.011	T	T	24447086	C	T	24447086	2	4	112	1	0	0	0	0	0	0	0	1	6616	871	31	1		1	GPLD1	6	24447086	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	13261639	24447086	146667981	379	7874											
GPLD1	2822	genome.wustl.edu	37	chr6	24460571	24460571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttatattcctgtcaacaCtttcagttagggatgtagtc	8	7	2	0	rs200155983	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:24460571C>T	ENST00000230036.1	-	12	1054	c.944G>A	c.(943-945)aGt>aAt	p.S315N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	315					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCTGTCAACACTTTCAGTTAG	0.358																																																	0								ENSG00000112293						140	144	142					6																	24460571		2203	4300	6503	GPLD1	SO:0001583	missense	0			-	HGNC	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.944G>A	6.37:g.24460571C>T	ENSP00000230036:p.Ser315Asn	Somatic	0	130	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	59	40.59	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP							pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.S315N	ENST00000230036.1	37	c.944	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	3.392	-0.124122	0.06795	.	.	ENSG00000112293	ENST00000230036	T	0.64803	-0.12	5.78	3.29	0.37713	.	0.911849	0.09390	N	0.808668	T	0.08179	0.0204	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	10	0.17369	T	0.5	-2.2523	3.5525	0.07851	0.1334:0.0743:0.1389:0.6535	.	315	P80108	PHLD_HUMAN	N	315	ENSP00000230036:S315N	ENSP00000230036:S315N	S	-	2	0	GPLD1	24568550	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.093000	0.15086	0.433000	0.26313	-0.290000	0.09829	AGT	-	NULL		0.358	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	protein_coding	OTTHUMT00000043315.1	C	NM_001503	-		24460571	-1	no_errors	ENST00000230036	ensembl	human	known	74_37	missense	SNP	0.000	T	T	24460571	C	T	24460571	3	4	112	1	0	0	0	0	1	0	0	0	6616	565	20	2	1634	2	GPLD1	6	24460571	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	13485	24460571	146654496	380	7875											
LRRC16A	55604	genome.wustl.edu	37	chr6	25492028	25492028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatccaatacagaatgttcCctggacatggtaaatttaaa	6	7	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:25492028C>T	ENST00000329474.6	+	14	1502	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	378					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGAATGTTCCCTGGACATGG	0.343																																																	0								ENSG00000079691						41	37	38					6																	25492028		1782	4064	5846	LRRC16A	SO:0001819	synonymous_variant	0			-	HGNC	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1134C>T	6.37:g.25492028C>T		Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S378	ENST00000329474.6	37	c.1134	CCDS54973.1	6																																																																																			-	NULL		0.343	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	protein_coding	OTTHUMT00000040045.2	C	NM_017640	-		25492028	1	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	SNP	0.779	T	T	25492028	C	T	25492028	2	4	112	1	0	0	0	0	0	0	0	1	8973	610	22	2		2	LRRC16A	6	25492028	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1031457	25492028	145623039	381	7876											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26031889	26031889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttacatttacgctctttCtccgcgaatgcggcgagcga	9	12	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:26031889C>T	ENST00000244661.2	-	1	399	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458																																																	0								ENSG00000124693						58	61	60					6																	26031889		2203	4300	6503	HIST1H3B	SO:0001583	missense	0			-	HGNC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.400G>A	6.37:g.26031889C>T	ENSP00000244661:p.Glu134Lys	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E134K	ENST00000244661.2	37	c.400	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	17.81	3.480811	0.63849	.	.	ENSG00000124693	ENST00000244661	T	0.47177	0.85	5.17	5.17	0.71159	.	.	.	.	.	T	0.60702	0.2289	.	.	.	0.44719	D	0.997715	.	.	.	.	.	.	T	0.65512	-0.6150	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	K	134	ENSP00000244661:E134K	ENSP00000244661:E134K	E	-	1	0	HIST1H3B	26139868	1.000000	0.71417	0.976000	0.42696	0.130000	0.20726	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAA	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.458	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	protein_coding	OTTHUMT00000040077.1	C	NM_003537	-		26031889	-1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26031889	C	T	26031889	3	4	112	1	0	0	0	0	1	0	0	0	7158	922	32	2	14	2	HIST1H3B	6	26031889	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	539861	26031889	145083178	382	7877											
ZNF165	7718	genome.wustl.edu	37	chr6	28056768	28056768	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaatatggaaaatctttCaagagcccaaaacttgctaa	5	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28056768C>T	ENST00000377325.1	+	4	1534	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	326					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(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAAATCTTTCAAGAGCCCAA	0.368																																																	0								ENSG00000197279						45	47	46					6																	28056768		2203	4299	6502	ZNF165	SO:0001819	synonymous_variant	0			-	HGNC	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.978C>T	6.37:g.28056768C>T		Somatic	0	83	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	43	34.85		Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F326	ENST00000377325.1	37	c.978	CCDS4643.1	6																																																																																			-	NULL		0.368	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	protein_coding	OTTHUMT00000040173.1	C	NM_003447	-		28056768	1	no_errors	ENST00000377325	ensembl	human	known	74_37	silent	SNP	0.183	T	T	28056768	C	T	28056768	2	4	112	1	0	0	0	0	0	0	0	1	17747	825	29	2		2	ZNF165	6	28056768	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2024879	28056768	143058299	383	7878											
GPX5	2880	genome.wustl.edu	37	chr6	28501888	28501894	+	Frame_Shift_Del	DEL	GTCAGCT	GTCAGCT	-													gctggtcccaccgggctacgGtcagctcagtcaagacagac					rs536914105		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GTCAGCT	GTCAGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28501888_28501894delGTCAGCT	ENST00000412168.2	+	5	699_705	c.610_616delGTCAGCT	c.(610-618)gtcagctcafs	p.VSS204fs	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	204					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCGGGCTACGGTCAGCTCAGTCAAGAC	0.517																																																	0								ENSG00000224586																																			GPX5	SO:0001589	frameshift_variant	0				HGNC	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.610_616delGTCAGCT	6.37:g.28501888_28501894delGTCAGCT	ENSP00000392398:p.Val204fs	Somatic					0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1A4Y0	Frame_Shift_Del	DEL							pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.V204fs	ENST00000412168.2	37	c.610_616	CCDS4652.1	6																																																																																			-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase		0.517	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	protein_coding	OTTHUMT00000043672.2	GTCAGCT				28501894	1	no_errors	ENST00000412168	ensembl	human	known	74_37	frame_shift_del	DEL	0.233:0.458:0.424:0.434:0.390:0.010:0.000	-	-	28501894	GTCAGCT	-	28501888	7	5	112	1	0	1	0	1	0	0	0	0	6745	1261	44	0	628	0	GPX5	6	28501888	Frame_Shift_Del	DEL	GTCAGCT	TCGA-DX-AB2E-01A-11D-A38Z-09	445120	28501888	142613179	384	7879											
TRIM27	5987	genome.wustl.edu	37	chr6	28872289	28872289	+	Missense_Mutation	SNP	A	A	T													cccaataatgtctcccggcgAtgaagcatggagagcccaag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28872289A>T	ENST00000377199.3	-	8	1456	c.1100T>A	c.(1099-1101)aTc>aAc	p.I367N	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTCCCGGCGATGAAGCATGG	0.522			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0								ENSG00000204713						71	71	71					6																	28872289		1511	2709	4220	TRIM27	SO:0001583	missense	0			-	HGNC	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1100T>A	6.37:g.28872289A>T	ENSP00000366404:p.Ile367Asn	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	47	33.80	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.I367N	ENST00000377199.3	37	c.1100	CCDS4654.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.45|13.45	2.240170|2.240170	0.39598|0.39598	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199	.|T	.|0.60548	.|0.18	4.89|4.89	3.62|3.62	0.41486|0.41486	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.|0.127308	.|0.37393	.|N	.|0.002105	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.03115|0.03115	-0.41|-0.41	0.80722|0.80722	D|D	1|1	.|B	.|0.31290	.|0.318	.|B	.|0.27608	.|0.081	T|T	0.06409|0.06409	-1.0828|-1.0828	5|10	.|0.31617	.|T	.|0.26	.|.	5.2363|5.2363	0.15448|0.15448	0.6416:0.1827:0.0:0.1757|0.6416:0.1827:0.0:0.1757	.|.	.|367	.|P14373	.|TRI27_HUMAN	Q|N	101|367	.|ENSP00000366404:I367N	.|ENSP00000366404:I367N	H|I	-|-	3|2	2|0	TRIM27|TRIM27	28980268|28980268	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.049000|0.049000	0.14099|0.14099	2.131000|2.131000	0.65755|0.65755	0.528000|0.528000	0.53228|0.53228	CAT|ATC	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	protein_coding	OTTHUMT00000076442.2	A	NM_030950	-		28872289	-1	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	SNP	0.999	T	T	28872289	A	T	28872289	3	4	112	1	0	0	0	0	1	0	0	0	16508	333	12	5	445	5	TRIM27	6	28872289	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	370401	28872289	142242778	385	7880	115	2									
TRIM27	5987	genome.wustl.edu	37	chr6	28872290	28872290	+	Missense_Mutation	SNP	T	T	C													ccaataatgtctcccggcgaTgaagcatggagagcccaaga							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28872290T>C	ENST00000377199.3	-	8	1455	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCCGGCGATGAAGCATGGA	0.522			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0								ENSG00000204713						71	71	71					6																	28872290		1511	2709	4220	TRIM27	SO:0001583	missense	0			-	HGNC	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1099A>G	6.37:g.28872290T>C	ENSP00000366404:p.Ile367Val	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	47	33.80	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.I367V	ENST00000377199.3	37	c.1099	CCDS4654.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.193|1.193	-0.634611|-0.634611	0.03584|0.03584	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199	.|T	.|0.60672	.|0.17	4.89|4.89	2.31|2.31	0.28768|0.28768	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.|0.127308	.|0.37393	.|N	.|0.002105	T|T	0.16938|0.16938	0.0407|0.0407	N|N	0.12920|0.12920	0.275|0.275	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.06789|0.06789	-1.0807|-1.0807	5|10	.|0.40728	.|T	.|0.16	.|.	3.6861|3.6861	0.08328|0.08328	0.0:0.197:0.1923:0.6107|0.0:0.197:0.1923:0.6107	.|.	.|367	.|P14373	.|TRI27_HUMAN	R|V	101|367	.|ENSP00000366404:I367V	.|ENSP00000366404:I367V	H|I	-|-	2|1	0|0	TRIM27|TRIM27	28980269|28980269	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	-1.166000|-1.166000	0.03129|0.03129	0.967000|0.967000	0.38186|0.38186	0.528000|0.528000	0.53228|0.53228	CAT|ATC	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	protein_coding	OTTHUMT00000076442.2	T	NM_030950	-		28872290	-1	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	SNP	0.999	C	C	28872290	T	C	28872290	3	2	112	1	0	0	0	0	1	0	0	0	16508	1464	51	5	446	5	TRIM27	6	28872290	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	1	28872290	142242777	386	7881	115	2									
TCF19	6941	genome.wustl.edu	37	chr6	31129449	31129449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccggcctatgctgccctCccagggggctccacagcggc	12	17	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31129449C>T	ENST00000376257.3	+	3	1218	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TCF19_ENST00000496421.1_Intron|TCF19_ENST00000376255.4_Missense_Mutation_p.S155F	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	155					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						ATGCTGCCCTCCCAGGGGGCT	0.627																																																	0								ENSG00000137310						70	79	76					6																	31129449		1208	2518	3726	TCF19	SO:0001583	missense	0			-	HGNC	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.464C>T	6.37:g.31129449C>T	ENSP00000365433:p.Ser155Phe	Somatic	0	139	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	90	30.77	A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP							pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.S155F	ENST00000376257.3	37	c.464	CCDS43446.1	6	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419077	0.42918	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.25085	1.86;1.86;1.82	5.71	4.84	0.62591	.	0.524090	0.21970	N	0.066476	T	0.11281	0.0275	L	0.47716	1.5	0.09310	N	1	B	0.34015	0.435	B	0.31290	0.127	T	0.07328	-1.0778	10	0.62326	D	0.03	-37.9673	12.6775	0.56903	0.0:0.9195:0.0:0.0805	.	155	Q9Y242	TCF19_HUMAN	F	155;155;75	ENSP00000365433:S155F;ENSP00000365431:S155F;ENSP00000439397:S75F	ENSP00000365431:S155F	S	+	2	0	TCF19	31237428	0.022000	0.18835	0.018000	0.16275	0.369000	0.29798	2.964000	0.49192	1.415000	0.47037	0.549000	0.68633	TCC	-	NULL		0.627	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	protein_coding	OTTHUMT00000076595.2	C	NM_007109	-		31129449	1	no_errors	ENST00000376255	ensembl	human	known	74_37	missense	SNP	0.023	T	T	31129449	C	T	31129449	3	4	112	1	0	0	0	0	1	0	0	0	15696	855	30	2	470	2	TCF19	6	31129449	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2257159	31129449	139985618	387	7882											
NFKBIL1	4795	genome.wustl.edu	37	chr6	31526089	31526089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaccagggccgggcccaggGaagagcaccccagaggagcg	16	14	0	2	rs201985780		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31526089G>A	ENST00000376148.4	+	4	961	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.E268K	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	283					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGGGCCCAGGGAAGAGCACCC	0.706																																																	0								ENSG00000204498						10	9	9					6																	31526089		1488	2692	4180	NFKBIL1	SO:0001583	missense	0			-	HGNC	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.847G>A	6.37:g.31526089G>A	ENSP00000365318:p.Glu283Lys	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	44	35.29	A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E283K	ENST00000376148.4	37	c.847	CCDS4700.1	6	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.582787	0.03827	.	.	ENSG00000204498	ENST00000376146;ENST00000376148;ENST00000376145	T;T;T	0.25912	1.77;1.77;1.77	5.81	4.93	0.64822	.	0.506486	0.21899	N	0.067470	T	0.03695	0.0105	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	0.37314	-0.9711	10	0.07813	T	0.8	-1.0985	12.1344	0.53961	0.0:0.0:0.8284:0.1716	.	260;268;283	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	K	260;283;268	ENSP00000365316:E260K;ENSP00000365318:E283K;ENSP00000365315:E268K	ENSP00000365315:E268K	E	+	1	0	NFKBIL1	31634068	0.506000	0.26139	0.993000	0.49108	0.607000	0.37147	2.588000	0.46137	1.416000	0.47057	0.563000	0.77884	GAA	-	NULL		0.706	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL1	protein_coding	OTTHUMT00000076036.3	G	NM_005007	rs201985780		31526089	1	no_errors	ENST00000376148	ensembl	human	known	74_37	missense	SNP	0.460	A	A	31526089	G	A	31526089	3	1	112	1	0	0	0	0	1	0	0	0	10383	1175	41	2	861	2	NFKBIL1	6	31526089	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	396640	31526089	139588978	388	7883											
STK19	8859	genome.wustl.edu	37	chr6	31948444	31948444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctagggcgccaggctgtCcttagcatggtccggaaggc	14	13	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31948444C>T	ENST00000375333.2	+	7	980	c.927C>T	c.(925-927)gtC>gtT	p.V309V	C4A_ENST00000498271.1_5'Flank|C4A_ENST00000537134.1_5'Flank|STK19_ENST00000375331.2_Silent_p.V305V|C4A_ENST00000428956.2_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	309					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCCAGGCTGTCCTTAGCATGG	0.617																																																	0								ENSG00000204344						52	70	64					6																	31948444		1507	2708	4215	STK19	SO:0001819	synonymous_variant	0			-	HGNC	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.927C>T	6.37:g.31948444C>T		Somatic	0	71	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Silent	SNP							pfam_Ser/Thr_kinase_19	p.V309	ENST00000375333.2	37	c.927	CCDS4733.1	6																																																																																			-	pfam_Ser/Thr_kinase_19		0.617	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STK19	protein_coding	OTTHUMT00000076484.3	C		-		31948444	1	no_errors	ENST00000375333	ensembl	human	known	74_37	silent	SNP	0.999	T	T	31948444	C	T	31948444	2	4	112	1	0	0	0	0	0	0	0	1	15299	842	30	2		2	STK19	6	31948444	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	422355	31948444	139166623	389	7884											
TNXB	7148	genome.wustl.edu	37	chr6	32039915	32039915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctggggctgcccgtcCctgtccttgtactgaaccac	9	17	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:32039915C>T	ENST00000375244.3	-	13	5043	c.4842G>A	c.(4840-4842)agG>agA	p.R1614R	TNXB_ENST00000375247.2_Silent_p.R1614R			P22105	TENX_HUMAN	tenascin XB	1696	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCGTCCCTGTCCTTGT	0.587																																																	0								ENSG00000168477						26	28	27					6																	32039915		1952	4129	6081	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4842G>A	6.37:g.32039915C>T		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1614	ENST00000375244.3	37	c.4842		6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	C	NM_019105	-		32039915	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	0.987	T	T	32039915	C	T	32039915	2	4	112	1	0	0	0	0	0	0	0	1	16353	622	22	2		2	TNXB	6	32039915	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	91471	32039915	139075152	390	7885											
TNXB	7148	genome.wustl.edu	37	chr6	32053875	32053875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcatcggtagtccccaAgaggcccaagggtgaggacc	14	12	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:32053875A>G	ENST00000375244.3	-	7	3001	c.2800T>C	c.(2800-2802)Ttg>Ctg	p.L934L	TNXB_ENST00000375247.2_Silent_p.L934L			P22105	TENX_HUMAN	tenascin XB	1027					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTAGTCCCCAAGAGGCCCAAG	0.632																																																	0								ENSG00000168477						6	7	7					6																	32053875		1167	2478	3645	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2800T>C	6.37:g.32053875A>G		Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L934	ENST00000375244.3	37	c.2800		6																																																																																			-	NULL		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	A	NM_019105	-		32053875	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	1.000	G	G	32053875	A	G	32053875	2	3	112	1	0	0	0	0	0	0	0	1	16353	69	3	5		5	TNXB	6	32053875	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	13960	32053875	139061192	391	7886											
RING1	6015	genome.wustl.edu	37	chr6	33177437	33177437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcacagagattgctgtttCccctcggtcactgcattcag	10	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:33177437C>T	ENST00000374656.4	+	3	321	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	38	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						ATTGCTGTTTCCCCTCGGTCA	0.507																																																	0								ENSG00000204227						196	157	171					6																	33177437		1511	2709	4220	RING1	SO:0001583	missense	0			-	HGNC		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.113C>T	6.37:g.33177437C>T	ENSP00000363787:p.Ser38Phe	Somatic	0	25	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S38F	ENST00000374656.4	37	c.113	CCDS34424.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051188	0.75960	.	.	ENSG00000204227	ENST00000374656	T	0.68181	-0.31	4.07	4.07	0.47477	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79463	-0.1793	10	0.87932	D	0	-14.8792	13.8	0.63194	0.0:1.0:0.0:0.0	.	38	Q06587	RING1_HUMAN	F	38	ENSP00000363787:S38F	ENSP00000363787:S38F	S	+	2	0	RING1	33285415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.285000	0.78660	2.090000	0.63153	0.542000	0.68232	TCC	-	NULL		0.507	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RING1	protein_coding	OTTHUMT00000076609.2	C		-		33177437	1	no_errors	ENST00000374656	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33177437	C	T	33177437	3	4	112	1	0	0	0	0	1	0	0	0	13382	855	30	2	119	2	RING1	6	33177437	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1123562	33177437	137937630	392	7887											
TULP1	7287	genome.wustl.edu	37	chr6	35471347	35471347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctcacatttcggggccGgatggggaccctctcgttct	15	12	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:35471347G>A	ENST00000229771.6	-	13	1391	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TULP1_ENST00000322263.4_Missense_Mutation_p.R385W	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	438					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCGGGGCCGGATGGGGACC	0.622																																					GBM(55;1027 1091 11115 23439)												0								ENSG00000112041						17	16	16					6																	35471347		2197	4297	6494	TULP1	SO:0001583	missense	0			-	HGNC	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1312C>T	6.37:g.35471347G>A	ENSP00000229771:p.Arg438Trp	Somatic	0	110	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.32	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.R438W	ENST00000229771.6	37	c.1312	CCDS4807.1	6	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826650	0.71143	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.96554	-4.05;-4.05	5.02	4.15	0.48705	Tubby, C-terminal (3);	0.125717	0.52532	D	0.000067	D	0.97838	0.9290	M	0.87617	2.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	D	0.98614	1.0664	10	0.87932	D	0	-20.5031	14.9662	0.71196	0.0:0.0:0.856:0.144	.	385;438	O00294-2;O00294	.;TULP1_HUMAN	W	438;385	ENSP00000229771:R438W;ENSP00000319414:R385W	ENSP00000229771:R438W	R	-	1	2	TULP1	35579325	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.053000	0.64269	1.109000	0.41680	-0.326000	0.08463	CGG	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.622	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	protein_coding	OTTHUMT00000040307.2	G		-		35471347	-1	no_errors	ENST00000229771	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35471347	G	A	35471347	3	1	112	1	0	0	0	0	1	0	0	0	16780	1115	39	1	328	1	TULP1	6	35471347	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2293910	35471347	135643720	393	7888											
SLC26A8	116369	genome.wustl.edu	37	chr6	35965594	35965594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccataaggtaggagggggccGaaaactcattcttgacgaaa	12	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:35965594G>A	ENST00000490799.1	-	5	901	c.548C>T	c.(547-549)tCg>tTg	p.S183L	SLC26A8_ENST00000355574.2_Missense_Mutation_p.S183L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.S183L	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAGGGGGCCGAAAACTCATT	0.458																																																	0								ENSG00000112053						109	98	101					6																	35965594		2203	4300	6503	SLC26A8	SO:0001583	missense	0			-	HGNC	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.548C>T	6.37:g.35965594G>A	ENSP00000417638:p.Ser183Leu	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	66	34.31		Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S183L	ENST00000490799.1	37	c.548	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462498	0.43736	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95001	-3.31;-3.58;-3.31	5.82	4.87	0.63330	.	0.441548	0.22019	N	0.065753	D	0.92763	0.7699	L	0.54323	1.7	0.23293	N	0.997962	D;D	0.76494	0.998;0.999	P;P	0.55667	0.572;0.781	D	0.86941	0.2079	10	0.33940	T	0.23	.	12.8768	0.57994	0.0:0.0:0.827:0.173	.	183;183	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	L	183	ENSP00000417638:S183L;ENSP00000378100:S183L;ENSP00000347778:S183L	ENSP00000347778:S183L	S	-	2	0	SLC26A8	36073572	0.985000	0.35326	0.769000	0.31535	0.004000	0.04260	2.619000	0.46401	2.751000	0.94390	0.650000	0.86243	TCG	-	NULL		0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	protein_coding	OTTHUMT00000040325.2	G		-		35965594	-1	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	SNP	0.345	A	A	35965594	G	A	35965594	3	1	112	1	0	0	0	0	1	0	0	0	14531	1059	37	1	2428	1	SLC26A8	6	35965594	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	494247	35965594	135149473	394	7889											
PNPLA1	285848	genome.wustl.edu	37	chr6	36269799	36269799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagccacacaacctcacaagGagtgggttcccaaaggggat	12	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:36269799G>A	ENST00000394571.2	+	6	937	c.937G>A	c.(937-939)Gag>Aag	p.E313K	PNPLA1_ENST00000388715.3_Missense_Mutation_p.E218K|PNPLA1_ENST00000312917.5_Missense_Mutation_p.E227K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	313					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCTCACAAGGAGTGGGTTCC	0.577											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000180316						83	84	84					6																	36269799		2203	4300	6503	PNPLA1	SO:0001583	missense	0			-	HGNC		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.937G>A	6.37:g.36269799G>A	ENSP00000378072:p.Glu313Lys	Somatic	0	39	0	861	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP							pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.E314K	ENST00000394571.2	37	c.940	CCDS54997.1	6	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193656	0.38707	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.29142	1.8;1.8;1.58;1.58	5.54	2.47	0.30058	.	16.389200	0.00166	U	0.000016	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B;B	0.24426	0.035;0.103	B;B	0.28011	0.027;0.085	T	0.21211	-1.0252	10	0.40728	T	0.16	-0.7136	8.7798	0.34785	0.1431:0.3886:0.4683:0.0	.	313;227	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	K	218;227;314;313	ENSP00000373367:E218K;ENSP00000321116:E227K;ENSP00000391868:E314K;ENSP00000378072:E313K	ENSP00000321116:E227K	E	+	1	0	PNPLA1	36377777	0.001000	0.12720	0.002000	0.10522	0.038000	0.13279	0.894000	0.28350	1.315000	0.45114	-0.219000	0.12488	GAG	-	NULL		0.577	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	protein_coding		G	NM_173676	-		36269799	1	no_errors	ENST00000457797	ensembl	human	known	74_37	missense	SNP	0.000	A	A	36269799	G	A	36269799	3	1	112	1	0	0	0	0	1	0	0	0	12166	1175	41	2	986	2	PNPLA1	6	36269799	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	304205	36269799	134845268	395	7890											
C6orf222	389384	genome.wustl.edu	37	chr6	36287154	36287154	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggtcctccctgtatggGaactgggtgcaattgtagtg	15	8	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:36287154G>A	ENST00000437635.2	-	11	2079	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	634										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCCTGTATGGGAACTGGGTGC	0.537																																																	0								ENSG00000189325						122	108	113					6																	36287154		2203	4300	6503	C6orf222	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1902C>T	6.37:g.36287154G>A		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	50	30.56	B2RTY8	Silent	SNP							NULL	p.F634	ENST00000437635.2	37	c.1902	CCDS34439.1	6																																																																																			-	NULL		0.537	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	protein_coding	OTTHUMT00000040338.2	G	NM_001010903	-		36287154	-1	no_errors	ENST00000437635	ensembl	human	known	74_37	silent	SNP	0.004	A	A	36287154	G	A	36287154	2	1	112	1	0	0	0	0	0	0	0	1	2358	1165	41	2		2	C6orf222	6	36287154	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	17355	36287154	134827913	396	7891											
MDGA1	266727	genome.wustl.edu	37	chr6	37613720	37613720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctcacctgaaaggttcGgagagttgatggctgagaaa	14	6	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:37613720G>A	ENST00000434837.3	-	12	3415	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	MDGA1_ENST00000505425.1_Missense_Mutation_p.P746L|MDGA1_ENST00000297153.7_Intron|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	746					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAAAGGTTCGGAGAGTTGAT	0.547																																																	0								ENSG00000112139						60	64	63					6																	37613720		1946	4141	6087	MDGA1	SO:0001583	missense	0			-	HGNC	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2237C>T	6.37:g.37613720G>A	ENSP00000402584:p.Pro746Leu	Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	A6NHG0|Q8NBE3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.P746L	ENST00000434837.3	37	c.2237	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257879	0.80246	.	.	ENSG00000112139	ENST00000434837;ENST00000505425	T;T	0.56941	0.43;0.44	5.81	5.81	0.92471	Immunoglobulin-like fold (1);	38.174900	0.00721	N	0.000889	T	0.58323	0.2114	L	0.58101	1.795	0.80722	D	1	D;B	0.67145	0.996;0.027	P;B	0.51453	0.67;0.004	T	0.52968	-0.8504	10	0.66056	D	0.02	.	16.8018	0.85616	0.0:0.0:1.0:0.0	.	746;746	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	L	746	ENSP00000402584:P746L;ENSP00000422042:P746L	ENSP00000402584:P746L	P	-	2	0	MDGA1	37721698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.746000	0.94184	0.655000	0.94253	CCG	-	NULL		0.547	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	protein_coding	OTTHUMT00000040419.3	G		-		37613720	-1	no_errors	ENST00000434837	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37613720	G	A	37613720	3	1	112	1	0	0	0	0	1	0	0	0	9408	1116	39	1	654	1	MDGA1	6	37613720	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1326566	37613720	133501347	397	7892											
DNAH8	1769	genome.wustl.edu	37	chr6	38877410	38877410	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgctgtggcctcctacttCctttcagactataatattgt	6	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:38877410C>T	ENST00000359357.3	+	63	9233	c.8979C>T	c.(8977-8979)ttC>ttT	p.F2993F	DNAH8_ENST00000441566.1_Silent_p.F2957F|DNAH8_ENST00000449981.2_Silent_p.F3210F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2993	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCTACTTCCTTTCAGACT	0.448																																																	0								ENSG00000124721						119	111	114					6																	38877410		2203	4300	6503	DNAH8	SO:0001819	synonymous_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8979C>T	6.37:g.38877410C>T		Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	26	50.00	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F2993	ENST00000359357.3	37	c.8979		6																																																																																			-	superfamily_P-loop_NTPase		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	C	NM_001206927	-		38877410	1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	SNP	1.000	T	T	38877410	C	T	38877410	2	4	112	1	0	0	0	0	0	0	0	1	4609	854	30	2		2	DNAH8	6	38877410	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1263690	38877410	132237657	398	7893											
TRERF1	55809	genome.wustl.edu	37	chr6	42231058	42231058	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagagagggtcatcctcacGagcacaggcatctcgtcgtc	13	12	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:42231058G>A	ENST00000372922.4	-	8	2446	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	TRERF1_ENST00000541110.1_Silent_p.L628L|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCATCCTCACGAGCACAGGCA	0.667																																																	0								ENSG00000124496						65	68	67					6																	42231058		2203	4300	6503	TRERF1	SO:0001630	splice_region_variant	0			-	HGNC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1884+1C>T	6.37:g.42231058G>A		Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP							pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.L628	ENST00000372922.4	37	c.1884	CCDS4867.1	6																																																																																			-	NULL		0.667	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	protein_coding	OTTHUMT00000040551.2	G	NM_033502	-	Silent	42231058	-1	no_errors	ENST00000541110	ensembl	human	known	74_37	silent	SNP	0.999	A	A	42231058	G	A	42231058	5	1	112	1	0	0	0	0	0	0	1	0	16482	1072	37	1	1762	1	TRERF1	6	42231058	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3353648	42231058	128884009	399	7894											
ENPP5	59084	genome.wustl.edu	37	chr6	46129190	46129190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgctgccaagagagaccCctatgaaataagggtatgac	10	8	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:46129190C>T	ENST00000371383.2	-	5	1567	c.1307G>A	c.(1306-1308)gGg>gAg	p.G436E	ENPP5_ENST00000230565.3_Missense_Mutation_p.G436E					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAGAGAGACCCCTATGAAATA	0.393																																																	0								ENSG00000112796						75	75	75					6																	46129190		2203	4300	6503	ENPP5	SO:0001583	missense	0			-	HGNC	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1307G>A	6.37:g.46129190C>T	ENSP00000360436:p.Gly436Glu	Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	60	34.78		Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G436E	ENST00000371383.2	37	c.1307	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717333	0.89205	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75260	-0.92;-0.92	5.85	5.85	0.93711	.	0.114600	0.56097	D	0.000021	D	0.82440	0.5037	M	0.63843	1.955	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83552	0.0102	10	0.87932	D	0	-13.2056	16.8963	0.86101	0.0:1.0:0.0:0.0	.	436	Q9UJA9	ENPP5_HUMAN	E	436	ENSP00000360436:G436E;ENSP00000230565:G436E	ENSP00000230565:G436E	G	-	2	0	ENPP5	46237149	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	4.897000	0.63231	2.773000	0.95371	0.655000	0.94253	GGG	-	NULL		0.393	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	protein_coding	OTTHUMT00000040779.2	C		-		46129190	-1	no_errors	ENST00000230565	ensembl	human	known	74_37	missense	SNP	0.999	T	T	46129190	C	T	46129190	3	4	112	1	0	0	0	0	1	0	0	0	5135	623	22	2	130	2	ENPP5	6	46129190	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3898132	46129190	124985877	400	7895											
MUT	4594	genome.wustl.edu	37	chr6	49416591	49416591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaagtttaggtattcccTcagctacagctttggccatt	8	10	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:49416591T>C	ENST00000274813.3	-	7	1509	c.1382A>G	c.(1381-1383)gAg>gGg	p.E461G		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	461					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTATTCCCTCAGCTACAGC	0.338																																																	0								ENSG00000146085						145	144	144					6																	49416591		2203	4300	6503	MUT	SO:0001583	missense	0			-	HGNC		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1382A>G	6.37:g.49416591T>C	ENSP00000274813:p.Glu461Gly	Somatic	0	133	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	63	42.73	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP							pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.E461G	ENST00000274813.3	37	c.1382	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896954	0.72639	.	.	ENSG00000146085	ENST00000274813	D	0.98362	-4.89	5.75	5.75	0.90469	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.82823	2.61	0.80722	D	1	P	0.37824	0.609	P	0.44647	0.456	D	0.99078	1.0836	10	0.66056	D	0.02	3.8903	15.2313	0.73390	0.0:0.0:0.0:1.0	.	461	P22033	MUTA_HUMAN	G	461	ENSP00000274813:E461G	ENSP00000274813:E461G	E	-	2	0	MUT	49524550	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.698000	0.84413	2.192000	0.70111	0.528000	0.53228	GAG	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat		0.338	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	protein_coding	OTTHUMT00000040854.1	T		-		49416591	-1	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	SNP	1.000	C	C	49416591	T	C	49416591	3	2	112	1	0	0	0	0	1	0	0	0	9993	1551	54	5	898	5	MUT	6	49416591	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	3287401	49416591	121698476	401	7896											
DEFB113	245927	genome.wustl.edu	37	chr6	49936529	49936529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcaagcaccacgaacaAgctgacattctctttttctc	6	13	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:49936529A>G	ENST00000398718.1	-	2	109	c.110T>C	c.(109-111)cTt>cCt	p.L37P		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	37					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ACCACGAACAAGCTGACATTC	0.403																																																	0								ENSG00000214642						112	107	109					6																	49936529		1884	4106	5990	DEFB113	SO:0001583	missense	0			-	HGNC	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"Defensins, beta"	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.110T>C	6.37:g.49936529A>G	ENSP00000381703:p.Leu37Pro	Somatic	0	71	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	59	23.38		Missense_Mutation	SNP							NULL	p.L37P	ENST00000398718.1	37	c.110	CCDS43472.1	6	.	.	.	.	.	.	.	.	.	.	A	9.242	1.038656	0.19669	.	.	ENSG00000214642	ENST00000398718	T	0.12465	2.68	4.15	2.94	0.34122	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.24660	N	0.993476	D	0.71674	0.998	D	0.69479	0.964	T	0.05146	-1.0903	7	.	.	.	-6.4136	7.6423	0.28300	0.784:0.216:0.0:0.0	.	37	Q30KQ7	DB113_HUMAN	P	37	ENSP00000381703:L37P	.	L	-	2	0	DEFB113	50044488	0.717000	0.27966	0.118000	0.21660	0.020000	0.10135	1.978000	0.40598	0.720000	0.32209	0.455000	0.32223	CTT	-	NULL		0.403	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	protein_coding	OTTHUMT00000359666.1	A		-		49936529	-1	no_errors	ENST00000398718	ensembl	human	known	74_37	missense	SNP	0.135	G	G	49936529	A	G	49936529	3	3	112	1	0	0	0	0	1	0	0	0	4404	72	3	5	134	5	DEFB113	6	49936529	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	519938	49936529	121178538	402	7897											
C6orf142	90523	genome.wustl.edu	37	chr6	53989330	53989330	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacaagagagagaccaagcGaaattgacttgtccttcaga	9	9	1	4	rs200776368		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:53989330G>A	ENST00000274897.5	+	3	392	c.279G>A	c.(277-279)gcG>gcA	p.A93A	MLIP_ENST00000502396.1_Silent_p.A104A|MLIP_ENST00000370877.2_Silent_p.A41A|MLIP_ENST00000370876.2_Silent_p.A31A|MLIP_ENST00000358276.5_Silent_p.A87A|MLIP_ENST00000509997.1_Silent_p.A41A|MLIP_ENST00000514921.1_Silent_p.A93A|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	93						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GAGACCAAGCGAAATTGACTT	0.403																																																	0								ENSG00000146147						89	86	87					6																	53989330		2203	4300	6503	MLIP	SO:0001819	synonymous_variant	0			-	HGNC	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.279G>A	6.37:g.53989330G>A		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	41.38	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP							NULL	p.A93	ENST00000274897.5	37	c.279	CCDS4954.1	6																																																																																			-	NULL		0.403	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	protein_coding	OTTHUMT00000040979.3	G	NM_138569	rs200776368		53989330	1	no_errors	ENST00000274897	ensembl	human	known	74_37	silent	SNP	0.004	A	A	53989330	G	A	53989330	2	1	112	1	0	0	0	0	0	0	0	1	2335	1045	37	1		1	C6orf142	6	53989330	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4052801	53989330	117125737	403	7898											
FAM83B	222584	genome.wustl.edu	37	chr6	54806428	54806428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggagatgcctctgccCcaagatttaacactgaacag	11	11	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:54806428C>T	ENST00000306858.7	+	5	2775	c.2659C>T	c.(2659-2661)Cca>Tca	p.P887S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	887										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCTCTGCCCCAAGATTTAA	0.443																																																	0								ENSG00000168143						74	71	72					6																	54806428		2203	4300	6503	FAM83B	SO:0001583	missense	0			-	HGNC	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2659C>T	6.37:g.54806428C>T	ENSP00000304078:p.Pro887Ser	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	Q2M1P3|Q96DQ2	Missense_Mutation	SNP							pfam_DUF1669	p.P887S	ENST00000306858.7	37	c.2659	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835857	0.71373	.	.	ENSG00000168143	ENST00000306858	T	0.36878	1.23	5.63	5.63	0.86233	.	0.076606	0.56097	D	0.000038	T	0.56187	0.1968	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.58482	-0.7629	10	0.72032	D	0.01	-21.1392	19.6772	0.95941	0.0:1.0:0.0:0.0	.	887	Q5T0W9	FA83B_HUMAN	S	887	ENSP00000304078:P887S	ENSP00000304078:P887S	P	+	1	0	FAM83B	54914387	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.297000	0.72757	2.656000	0.90262	0.655000	0.94253	CCA	-	NULL		0.443	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	protein_coding	OTTHUMT00000040994.1	C	XM_294139	-		54806428	1	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54806428	C	T	54806428	3	4	112	1	0	0	0	0	1	0	0	0	5636	623	22	2	2673	2	FAM83B	6	54806428	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	817098	54806428	116308639	404	7899											
FAM83B	222584	genome.wustl.edu	37	chr6	54806762	54806762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgagaacaagtttcgagGatttatgcaaaagtttggaa	10	4	0	1	rs267601082		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:54806762G>A	ENST00000306858.7	+	5	3109	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	998										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGTTTCGAGGATTTATGCAA	0.348																																																	0								ENSG00000168143						47	47	47					6																	54806762		2203	4300	6503	FAM83B	SO:0001583	missense	0			-	HGNC	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2993G>A	6.37:g.54806762G>A	ENSP00000304078:p.Gly998Glu	Somatic	0	83	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	55	26.67	Q2M1P3|Q96DQ2	Missense_Mutation	SNP							pfam_DUF1669	p.G998E	ENST00000306858.7	37	c.2993	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303801	0.81136	.	.	ENSG00000168143	ENST00000306858	T	0.30981	1.51	5.76	5.76	0.90799	.	0.077301	0.53938	D	0.000043	T	0.46658	0.1404	M	0.67953	2.075	0.47341	D	0.999395	D	0.69078	0.997	P	0.61874	0.895	T	0.36696	-0.9737	10	0.54805	T	0.06	-30.2055	19.9813	0.97326	0.0:0.0:1.0:0.0	.	998	Q5T0W9	FA83B_HUMAN	E	998	ENSP00000304078:G998E	ENSP00000304078:G998E	G	+	2	0	FAM83B	54914721	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.484000	0.60271	2.726000	0.93360	0.655000	0.94253	GGA	-	NULL		0.348	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	protein_coding	OTTHUMT00000040994.1	G	XM_294139	-		54806762	1	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54806762	G	A	54806762	3	1	112	1	0	0	0	0	1	0	0	0	5636	1174	41	2	3007	2	FAM83B	6	54806762	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	334	54806762	116308305	405	7900											
ZNF451	26036	genome.wustl.edu	37	chr6	57017092	57017092	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaggattggatgcttcttCcttcatcctcgctgtagtaa	8	10	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:57017092C>T	ENST00000370706.4	+	12	3070	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	ZNF451_ENST00000491832.2_Silent_p.F942F|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000357489.3_Silent_p.F894F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGCTTCTTCCTTCATCCTC	0.368																																																	0								ENSG00000112200						138	132	134					6																	57017092		2203	4300	6503	ZNF451	SO:0001819	synonymous_variant	0			-	HGNC	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2826C>T	6.37:g.57017092C>T		Somatic	0	143	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	81	19.00	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F942	ENST00000370706.4	37	c.2826	CCDS43477.1	6																																																																																			-	NULL		0.368	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	protein_coding	OTTHUMT00000041035.2	C	NM_015555	-		57017092	1	no_errors	ENST00000370706	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57017092	C	T	57017092	2	4	112	1	0	0	0	0	0	0	0	1	17929	854	30	2		2	ZNF451	6	57017092	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2210330	57017092	114097975	406	7901											
EYS	346007	genome.wustl.edu	37	chr6	64574181	64574181	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttccacatgggttgttttCacaacttgcaaactggcaca	7	10	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:64574181C>T	ENST00000370621.3	-	36	7652	c.7126G>A	c.(7126-7128)Gaa>Aaa	p.E2376K	EYS_ENST00000503581.1_Missense_Mutation_p.E2376K|EYS_ENST00000370616.2_Missense_Mutation_p.E2376K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2376	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGGTTGTTTTCACAACTTGCA	0.438																																																	0								ENSG00000188107						101	86	91					6																	64574181		692	1591	2283	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.7126G>A	6.37:g.64574181C>T	ENSP00000359655:p.Glu2376Lys	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E2376K	ENST00000370621.3	37	c.7126		6	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948413	0.53186	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.19532	2.14;2.14;2.14	4.76	3.89	0.44902	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.137546	0.28560	U	0.014911	T	0.09949	0.0244	N	0.21282	0.65	0.80722	D	1	P;P	0.46277	0.875;0.802	B;P	0.53649	0.341;0.731	T	0.05818	-1.0862	10	0.09843	T	0.71	.	11.3966	0.49845	0.0:0.9153:0.0:0.0847	.	2376;2376	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	2376	ENSP00000424243:E2376K;ENSP00000359655:E2376K;ENSP00000359650:E2376K	ENSP00000359650:E2376K	E	-	1	0	EYS	64632140	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.401000	0.59716	0.996000	0.38943	-0.150000	0.13652	GAA	-	smart_EG-like_dom,pfscan_EG-like_dom		0.438	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		64574181	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64574181	C	T	64574181	3	4	112	1	0	0	0	0	1	0	0	0	5334	835	29	2	2340	2	EYS	6	64574181	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7557089	64574181	106540886	407	7902											
EYS	346007	genome.wustl.edu	37	chr6	65327356	65327356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgagccaggttcattctcCatgcagagttcatgaacaca	9	11	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:65327356C>T	ENST00000370621.3	-	24	4165	c.3639G>A	c.(3637-3639)atG>atA	p.M1213I	EYS_ENST00000503581.1_Missense_Mutation_p.M1213I|EYS_ENST00000370616.2_Missense_Mutation_p.M1213I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1213					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTCATTCTCCATGCAGAGTT	0.398																																																	0								ENSG00000188107						107	85	91					6																	65327356		692	1591	2283	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3639G>A	6.37:g.65327356C>T	ENSP00000359655:p.Met1213Ile	Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	28	49.09	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.M1213I	ENST00000370621.3	37	c.3639		6	.	.	.	.	.	.	.	.	.	.	C	9.920	1.211948	0.22289	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.81247	-1.47;-1.47;-1.47	4.71	-2.61	0.06171	.	.	.	.	.	T	0.31451	0.0797	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	0.19745	-1.0296	9	0.09084	T	0.74	.	3.0971	0.06313	0.3439:0.3509:0.0:0.3052	.	1213;1213	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	I	1213	ENSP00000424243:M1213I;ENSP00000359655:M1213I;ENSP00000359650:M1213I	ENSP00000359650:M1213I	M	-	3	0	EYS	65384077	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.198000	0.09505	-0.175000	0.10725	0.591000	0.81541	ATG	-	smart_EG-like_dom		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		65327356	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.000	T	T	65327356	C	T	65327356	3	4	112	1	0	0	0	0	1	0	0	0	5334	594	21	2	5720	2	EYS	6	65327356	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	753175	65327356	105787711	408	7903											
EYS	346007	genome.wustl.edu	37	chr6	65531597	65531597	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcacatgaacatggatattCattaataagttctgtgcacc	6	8	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:65531597C>T	ENST00000370621.3	-	21	3710	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	EYS_ENST00000503581.1_Missense_Mutation_p.E1062K|EYS_ENST00000370616.2_Missense_Mutation_p.E1062K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1062	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATGGATATTCATTAATAAGT	0.284																																																	0								ENSG00000188107						71	60	63					6																	65531597		692	1586	2278	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3184G>A	6.37:g.65531597C>T	ENSP00000359655:p.Glu1062Lys	Somatic	0	121	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	84	32.26	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1062K	ENST00000370621.3	37	c.3184		6	.	.	.	.	.	.	.	.	.	.	C	3.531	-0.095710	0.07010	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.87491	-2.26;-2.26;-2.26	4.63	1.85	0.25348	.	0.433839	0.16439	U	0.214368	T	0.50051	0.1593	N	0.11154	0.105	0.09310	N	0.999992	B	0.09022	0.002	B	0.09377	0.004	T	0.44937	-0.9295	10	0.13470	T	0.59	.	8.0647	0.30654	0.0:0.7438:0.0:0.2562	.	1062	Q5T1H1-1	.	K	1062	ENSP00000424243:E1062K;ENSP00000359655:E1062K;ENSP00000359650:E1062K	ENSP00000359650:E1062K	E	-	1	0	EYS	65588318	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-0.076000	0.11412	0.066000	0.16515	0.563000	0.77884	GAA	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.284	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		65531597	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.065	T	T	65531597	C	T	65531597	3	4	112	1	0	0	0	0	1	0	0	0	5334	835	29	2	6187	2	EYS	6	65531597	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	204241	65531597	105583470	409	7904											
EYS	346007	genome.wustl.edu	37	chr6	66053984	66053984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaattattatcttcaggatCgttcacataggttgcatctt	7	7	4	1	rs577044383		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:66053984C>T	ENST00000370621.3	-	10	2072	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	EYS_ENST00000370618.3_Missense_Mutation_p.D516N|EYS_ENST00000342421.5_Missense_Mutation_p.D516N|EYS_ENST00000503581.1_Missense_Mutation_p.D516N|EYS_ENST00000393380.2_Missense_Mutation_p.D516N|EYS_ENST00000370616.2_Missense_Mutation_p.D516N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	516					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373													C|||	1	0.000199681	0	0	5008	,	,		14884	0		0	False		,,,				2504	0.001																0								ENSG00000188107						97	97	97					6																	66053984		2203	4300	6503	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1546G>A	6.37:g.66053984C>T	ENSP00000359655:p.Asp516Asn	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	53	37.65	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D516N	ENST00000370621.3	37	c.1546		6	.	.	.	.	.	.	.	.	.	.	c	2.962	-0.214452	0.06101	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	3.85	1.42	0.22433	.	.	.	.	.	T	0.40595	0.1123	L	0.27053	0.805	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	0.21999	-1.0229	9	0.15499	T	0.54	.	3.984	0.09507	0.0:0.1249:0.2398:0.6353	.	516;516;516	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	516	ENSP00000424243:D516N;ENSP00000359655:D516N;ENSP00000359650:D516N;ENSP00000377042:D516N;ENSP00000341818:D516N;ENSP00000359652:D516N	ENSP00000341818:D516N	D	-	1	0	EYS	66110705	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.003000	0.14656	-0.312000	0.09012	GAT	-	NULL		0.373	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		66053984	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.000	T	T	66053984	C	T	66053984	3	4	112	1	0	0	0	0	1	0	0	0	5334	884	31	1	7986	1	EYS	6	66053984	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	522387	66053984	105061083	410	7905											
BAI3	577	genome.wustl.edu	37	chr6	69728293	69728293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttctagatttatccagGgtcaatagagttaatgcagg	9	5	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:69728293G>A	ENST00000370598.1	+	13	2830	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	670					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G670E(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTATCCAGGGTCAATAGAG	0.303																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000135298						113	120	118					6																	69728293		2203	4296	6499	BAI3	SO:0001583	missense	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2009G>A	6.37:g.69728293G>A	ENSP00000359630:p.Gly670Glu	Somatic	0	124	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	68	29.17	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G670E	ENST00000370598.1	37	c.2009	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006035	0.93287	.	.	ENSG00000135298	ENST00000370598	T	0.11604	2.76	6.08	6.08	0.98989	Domain of unknown function DUF3497 (1);	0.115766	0.64402	D	0.000020	T	0.25121	0.0610	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00361	-1.1789	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	670	O60242	BAI3_HUMAN	E	670	ENSP00000359630:G670E	ENSP00000359630:G670E	G	+	2	0	BAI3	69785014	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.226000	0.72277	2.894000	0.99253	0.591000	0.81541	GGG	-	pfam_DUF3497		0.303	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	G		-		69728293	1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69728293	G	A	69728293	3	1	112	1	0	0	0	0	1	0	0	0	1300	1232	43	2	2051	2	BAI3	6	69728293	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3674309	69728293	101386774	411	7906											
BAI3	577	genome.wustl.edu	37	chr6	70098718	70098718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttggaactgaggccagcaGagtgggagaagtgtctgaat	15	6	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:70098718G>A	ENST00000370598.1	+	32	5325	c.4504G>A	c.(4504-4506)Gag>Aag	p.E1502K	BAI3_ENST00000238918.8_Missense_Mutation_p.E708K|BAI3_ENST00000546190.1_Missense_Mutation_p.E466K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1502					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGGCCAGCAGAGTGGGAGAA	0.428																																																	0								ENSG00000135298						103	89	94					6																	70098718		2203	4300	6503	BAI3	SO:0001583	missense	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4504G>A	6.37:g.70098718G>A	ENSP00000359630:p.Glu1502Lys	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E1502K	ENST00000370598.1	37	c.4504	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750793	0.89753	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.55760	1.59;2.19;0.5	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	M	0.69358	2.11	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.67473	-0.5662	10	0.72032	D	0.01	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	708;1502	B7Z356;O60242	.;BAI3_HUMAN	K	1502;708;466	ENSP00000359630:E1502K;ENSP00000238918:E708K;ENSP00000441821:E466K	ENSP00000238918:E708K	E	+	1	0	BAI3	70155439	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.230000	0.95299	2.832000	0.97577	0.655000	0.94253	GAG	-	NULL		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	G		-		70098718	1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70098718	G	A	70098718	3	1	112	1	0	0	0	0	1	0	0	0	1300	943	33	2	4622	2	BAI3	6	70098718	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	370425	70098718	101016349	412	7907											
KCNQ5	56479	genome.wustl.edu	37	chr6	73751664	73751664	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctgatattttaggagttCgtgatgattgtcgtctttgg	11	4	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:73751664C>T	ENST00000370398.1	+	3	604	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCNQ5_ENST00000402622.2_Silent_p.F165F|KCNQ5_ENST00000355194.4_Silent_p.F165F|KCNQ5_ENST00000355635.3_Silent_p.F165F|KCNQ5_ENST00000414165.2_Silent_p.F165F|KCNQ5_ENST00000370392.1_Silent_p.F165F|KCNQ5_ENST00000342056.2_Silent_p.F165F|KCNQ5_ENST00000403813.2_Silent_p.F165F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	165					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.F165F(3)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTAGGAGTTCGTGATGATTG	0.413																																					GBM(142;1375 1859 14391 23261 44706)												3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)						ENSG00000185760						349	318	329					6																	73751664		2203	4300	6503	KCNQ5	SO:0001819	synonymous_variant	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.495C>T	6.37:g.73751664C>T		Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	35	50.00	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F165	ENST00000370398.1	37	c.495	CCDS4976.1	6																																																																																			-	pfam_Ion_trans_dom,prints_K_chnl		0.413	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	C	NM_019842	-		73751664	1	no_errors	ENST00000402622	ensembl	human	known	74_37	silent	SNP	0.998	T	T	73751664	C	T	73751664	2	4	112	1	0	0	0	0	0	0	0	1	8088	883	31	1		1	KCNQ5	6	73751664	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3652946	73751664	97363403	413	7908											
KCNQ5	56479	genome.wustl.edu	37	chr6	73787510	73787510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcacagcttggtacatagGatttttggttcttatttttt	7	5	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:73787510G>A	ENST00000370398.1	+	5	927	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000342056.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGTACATAGGATTTTTGGTT	0.348																																					GBM(142;1375 1859 14391 23261 44706)												0								ENSG00000185760						136	116	123					6																	73787510		2203	4300	6503	KCNQ5	SO:0001583	missense	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.818G>A	6.37:g.73787510G>A	ENSP00000359425:p.Gly273Glu	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	81	25.00	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G273E	ENST00000370398.1	37	c.818	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990085	0.93106	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.963;0.997;0.998;0.997;1.0;0.998	D	0.99497	1.0952	10	0.87932	D	0	-13.2574	20.1823	0.98208	0.0:0.0:1.0:0.0	.	273;273;273;273;273;273	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	E	273	ENSP00000345055:G273E;ENSP00000347326:G273E;ENSP00000359425:G273E;ENSP00000359419:G273E;ENSP00000385501:G273E;ENSP00000347853:G273E;ENSP00000384453:G273E;ENSP00000409861:G273E	ENSP00000345055:G273E	G	+	2	0	KCNQ5	73844231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GGA	-	pfam_Ion_trans_dom,prints_K_chnl		0.348	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	G	NM_019842	-		73787510	1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73787510	G	A	73787510	3	1	112	1	0	0	0	0	1	0	0	0	8088	1174	41	2	836	2	KCNQ5	6	73787510	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	35846	73787510	97327557	414	7909											
KCNQ5	56479	genome.wustl.edu	37	chr6	73904753	73904753	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaggaccgttctatgagGaaaagctttgacatgggagg	13	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:73904753G>A	ENST00000370398.1	+	14	2524	c.2415G>A	c.(2413-2415)agG>agA	p.R805R	KCNQ5_ENST00000402622.2_Silent_p.R815R|KCNQ5_ENST00000355194.4_Silent_p.R805R|KCNQ5_ENST00000355635.3_Silent_p.R806R|KCNQ5_ENST00000414165.2_Silent_p.R695R|KCNQ5_ENST00000342056.2_Silent_p.R824R|KCNQ5_ENST00000403813.2_Silent_p.R796R	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	805					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GTTCTATGAGGAAAAGCTTTG	0.483																																					GBM(142;1375 1859 14391 23261 44706)												0								ENSG00000185760						152	120	130					6																	73904753		2203	4300	6503	KCNQ5	SO:0001819	synonymous_variant	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2415G>A	6.37:g.73904753G>A		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R815	ENST00000370398.1	37	c.2445	CCDS4976.1	6																																																																																			-	NULL		0.483	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	G	NM_019842	-		73904753	1	no_errors	ENST00000402622	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73904753	G	A	73904753	2	1	112	1	0	0	0	0	0	0	0	1	8088	1165	41	2		2	KCNQ5	6	73904753	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	117243	73904753	97210314	415	7910											
IMPG1	3617	genome.wustl.edu	37	chr6	76713655	76713655	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggaccaaaggctggcagtGatccagcaatttctatgggt	12	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:76713655G>A	ENST00000369950.3	-	11	1337	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S383L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGCTGGCAGTGATCCAGCAAT	0.393																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	skin(1)						ENSG00000112706						82	76	78					6																	76713655		2203	4300	6503	IMPG1	SO:0001583	missense	0			-	HGNC	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1148C>T	6.37:g.76713655G>A	ENSP00000358966:p.Ser383Leu	Somatic	0	114	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	71	24.47		Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S383L	ENST00000369950.3	37	c.1148	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958963	0.02267	.	.	ENSG00000112706	ENST00000369950	T	0.19532	2.14	4.32	3.45	0.39498	.	0.964087	0.08520	N	0.933617	T	0.04679	0.0127	N	0.16478	0.41	0.09310	N	0.99999	B	0.13594	0.008	B	0.13407	0.009	T	0.40156	-0.9578	10	0.33141	T	0.24	.	8.3983	0.32570	0.1077:0.0:0.8923:0.0	.	383	Q17R60	IMPG1_HUMAN	L	383	ENSP00000358966:S383L	ENSP00000358966:S383L	S	-	2	0	IMPG1	76770375	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.386000	0.20702	1.169000	0.42739	0.563000	0.77884	TCA	-	NULL		0.393	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	protein_coding	OTTHUMT00000041288.1	G	NM_001563	-		76713655	-1	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	SNP	0.002	A	A	76713655	G	A	76713655	3	1	112	1	0	0	0	0	1	0	0	0	7730	1294	45	2	1273	2	IMPG1	6	76713655	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2808902	76713655	94401412	416	7911											
IMPG1	3617	genome.wustl.edu	37	chr6	76731937	76731937	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtgagacgttggcaacatCtgtgaaaattttaaaaatta	8	4	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:76731937C>T	ENST00000369950.3	-	6	752		c.e6-1		IMPG1_ENST00000369963.3_Splice_Site	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGGCAACATCTGTGAAAATT	0.378																																					Pancreas(37;839 1141 2599 26037)												0								ENSG00000112706						99	91	94					6																	76731937		2203	4300	6503	IMPG1	SO:0001630	splice_region_variant	0			-	HGNC	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.563-1G>A	6.37:g.76731937C>T		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27		Splice_Site	SNP							-	e6-1	ENST00000369950.3	37	c.563-1	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084155	0.36758	.	.	ENSG00000112706	ENST00000369950	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5109	0.56005	0.1666:0.8334:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMPG1	76788657	0.975000	0.34042	0.975000	0.42487	0.402000	0.30811	2.692000	0.47018	2.406000	0.81754	0.650000	0.86243	.	-	-		0.378	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	protein_coding	OTTHUMT00000041288.1	C	NM_001563	-	Intron	76731937	-1	no_errors	ENST00000369950	ensembl	human	known	74_37	splice_site	SNP	0.982	T	T	76731937	C	T	76731937	5	4	112	1	0	0	0	0	0	0	1	0	7730	927	32	2	1879	2	IMPG1	6	76731937	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	18282	76731937	94383130	417	7912											
BCKDHB	594	genome.wustl.edu	37	chr6	80878666	80878666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcctcactatccggtcCccttggggctgtgttggtca	13	12	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:80878666C>T	ENST00000320393.6	+	5	599	c.552C>T	c.(550-552)tcC>tcT	p.S184S	BCKDHB_ENST00000545529.1_Silent_p.S184S|BCKDHB_ENST00000369760.4_Silent_p.S184S|BCKDHB_ENST00000356489.5_Silent_p.S184S	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	184					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CTATCCGGTCCCCTTGGGGCT	0.478																																																	0								ENSG00000083123						146	147	147					6																	80878666		2203	4300	6503	BCKDHB	SO:0001819	synonymous_variant	0			-	HGNC	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.552C>T	6.37:g.80878666C>T		Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	88	29.60	Q5T2J3|Q9BQL0	Silent	SNP							pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.S184	ENST00000320393.6	37	c.552	CCDS4994.1	6																																																																																			-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.478	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	protein_coding	OTTHUMT00000043911.2	C	NM_000056	-		80878666	1	no_errors	ENST00000320393	ensembl	human	known	74_37	silent	SNP	0.778	T	T	80878666	C	T	80878666	2	4	112	1	0	0	0	0	0	0	0	1	1360	610	22	2		2	BCKDHB	6	80878666	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4146729	80878666	90236401	418	7913											
UBE2CBP	90025	genome.wustl.edu	37	chr6	83667038	83667038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccattgctcacctgaaagGaattcacacggcgaagggat	11	10	2	1	rs34566948	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:83667038G>A	ENST00000369747.3	-	9	1264	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	381	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CACCTGAAAGGAATTCACACG	0.473																																																	0								ENSG00000118420						113	94	100					6																	83667038		2203	4300	6503	UBE3D	SO:0001583	missense	0			-	HGNC	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1142C>T	6.37:g.83667038G>A	ENSP00000358762:p.Ser381Phe	Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	26.79	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP							pfam_UBQ-conj_enz_E2-bd_prot	p.S381F	ENST00000369747.3	37	c.1142	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821727	0.50633	.	.	ENSG00000118420	ENST00000369747	T	0.32515	1.45	5.57	5.57	0.84162	.	0.106577	0.64402	D	0.000003	T	0.48554	0.1506	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.49707	-0.8911	10	0.72032	D	0.01	-9.5469	16.4666	0.84080	0.0:0.0:1.0:0.0	.	381	Q7Z6J8	UB2CB_HUMAN	F	381	ENSP00000358762:S381F	ENSP00000358762:S381F	S	-	2	0	UBE2CBP	83723757	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	5.397000	0.66302	2.628000	0.89032	0.462000	0.41574	TCC	-	pfam_UBQ-conj_enz_E2-bd_prot		0.473	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	protein_coding	OTTHUMT00000041347.7	G	NM_198920	-		83667038	-1	no_errors	ENST00000369747	ensembl	human	known	74_37	missense	SNP	1.000	A	A	83667038	G	A	83667038	3	1	112	1	0	0	0	0	1	0	0	0	16854	1174	41	2	35	2	UBE2CBP	6	83667038	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2788372	83667038	87448029	419	7914											
SNAP91	9892	genome.wustl.edu	37	chr6	84350864	84350864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtcattctagttagaaatCgtttgtaaatttctagagca	8	5	3	2	rs201947130	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:84350864C>T	ENST00000439399.2	-	8	1032	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	SNAP91_ENST00000520302.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000521743.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000520213.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000369694.2_Missense_Mutation_p.R239Q|SNAP91_ENST00000437520.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000521485.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000195649.6_Missense_Mutation_p.R239Q|SNAP91_ENST00000428679.2_Missense_Mutation_p.R239Q	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	239					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTAGAAATCGTTTGTAAAT	0.284																																																	0								ENSG00000065609						51	50	50					6																	84350864		1791	4049	5840	SNAP91	SO:0001583	missense	0			-	HGNC	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.716G>A	6.37:g.84350864C>T	ENSP00000400459:p.Arg239Gln	Somatic	0	220	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	136	26.74	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP							pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.R239Q	ENST00000439399.2	37	c.716	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.084599	0.94100	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	6.06	5.18	0.71444	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.054016	0.64402	D	0.000001	T	0.54013	0.1832	M	0.79123	2.44	0.50813	D	0.999892	D;D;D;D	0.76494	0.989;0.993;0.999;0.993	P;P;D;P	0.68192	0.738;0.738;0.956;0.617	T	0.56902	-0.7902	10	0.87932	D	0	-7.6415	15.7718	0.78176	0.0:0.9339:0.0:0.0661	.	239;239;239;239	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	Q	239	ENSP00000429776:R239Q;ENSP00000358708:R239Q;ENSP00000400459:R239Q;ENSP00000195649:R239Q;ENSP00000412492:R239Q;ENSP00000413277:R239Q;ENSP00000428511:R239Q;ENSP00000428215:R239Q;ENSP00000428026:R239Q;ENSP00000430071:R239Q	ENSP00000195649:R239Q	R	-	2	0	SNAP91	84407583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.915000	0.56409	2.882000	0.98803	0.655000	0.94253	CGA	-	pfam_ANTH_dom		0.284	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	protein_coding	OTTHUMT00000375296.1	C		-		84350864	-1	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84350864	C	T	84350864	3	4	112	1	0	0	0	0	1	0	0	0	14841	884	31	1	2091	1	SNAP91	6	84350864	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	683826	84350864	86764203	420	7915											
CYB5R4	51167	genome.wustl.edu	37	chr6	84569507	84569507	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccggggtttgaagatgctGaacgtcccttcccagtcttt	12	11	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:84569507G>A	ENST00000369681.5	+	1	146	c.6G>A	c.(4-6)ctG>ctA	p.L2L	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	2					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TGAAGATGCTGAACGTCCCTT	0.711											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(86;1289 1332 25971 40349 52675)												0								ENSG00000065615						19	24	22					6																	84569507		2201	4298	6499	CYB5R4	SO:0001819	synonymous_variant	0			-	HGNC	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.6G>A	6.37:g.84569507G>A		Somatic	0	205	0	1230	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	138	20.69	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP							pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd	p.L2	ENST00000369681.5	37	c.6	CCDS5000.2	6																																																																																			-	NULL		0.711	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	protein_coding	OTTHUMT00000041362.4	G	NM_016230	-		84569507	1	no_errors	ENST00000369681	ensembl	human	known	74_37	silent	SNP	1.000	A	A	84569507	G	A	84569507	2	1	112	1	0	0	0	0	0	0	0	1	4131	1277	45	2		2	CYB5R4	6	84569507	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	218643	84569507	86545560	421	7916											
GABRR1	2569	genome.wustl.edu	37	chr6	89899896	89899896	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctactcacagctttcaatttCaagagagcacgtttgtgtgt	8	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:89899896C>T	ENST00000454853.2	-	6	753	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GABRR1_ENST00000435811.1_Missense_Mutation_p.E198K|GABRR1_ENST00000369451.3_Missense_Mutation_p.E128K	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	215					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)			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)	CTTTCAATTTCAAGAGAGCAC	0.453																																																	0								ENSG00000146276						152	133	139					6																	89899896		2203	4300	6503	GABRR1	SO:0001583	missense	0			-	HGNC		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.643G>A	6.37:g.89899896C>T	ENSP00000412673:p.Glu215Lys	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.E215K	ENST00000454853.2	37	c.643	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	31	5.068737	0.93950	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.77750	-1.12;-1.12;-1.12	5.7	5.7	0.88788	Neurotransmitter-gated ion-channel ligand-binding (3);	0.104827	0.64402	D	0.000004	T	0.80974	0.4727	L	0.41124	1.26	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.73380	0.915;0.98	T	0.77978	-0.2384	9	.	.	.	-23.2014	19.8289	0.96627	0.0:1.0:0.0:0.0	.	198;215	P24046-2;P24046	.;GBRR1_HUMAN	K	215;198;128;128	ENSP00000412673:E215K;ENSP00000394687:E198K;ENSP00000358463:E128K	.	E	-	1	0	GABRR1	89956615	1.000000	0.71417	0.953000	0.39169	0.973000	0.67179	5.956000	0.70315	2.692000	0.91855	0.467000	0.42956	GAA	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.453	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	C		-		89899896	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89899896	C	T	89899896	3	4	112	1	0	0	0	0	1	0	0	0	6178	835	29	2	816	2	GABRR1	6	89899896	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5330389	89899896	81215171	422	7917											
MDN1	23195	genome.wustl.edu	37	chr6	90357806	90357806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacgtagaatctgggacCcagagtaatcactgaactgc	11	9	2	4	rs369030618		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:90357806C>T	ENST00000369393.3	-	99	16455	c.16340G>A	c.(16339-16341)gGg>gAg	p.G5447E	MDN1_ENST00000428876.1_Missense_Mutation_p.G5447E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5447	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCTGGGACCCAGAGTAATC	0.378																																																	0								ENSG00000112159						121	117	118					6																	90357806		2203	4300	6503	MDN1	SO:0001583	missense	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16340G>A	6.37:g.90357806C>T	ENSP00000358400:p.Gly5447Glu	Somatic	0	110	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	60	36.84	O15019|Q5T794	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G5447E	ENST00000369393.3	37	c.16340	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438885	0.63067	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.21932	1.98;1.98	6.17	6.17	0.99709	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59268	-0.7486	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5447	Q9NU22	MDN1_HUMAN	E	5447	ENSP00000358400:G5447E;ENSP00000413970:G5447E	ENSP00000358400:G5447E	G	-	2	0	MDN1	90414527	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GGG	-	smart_VWF_A,pirsf_Midasin,pfscan_VWF_A		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	C		-		90357806	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90357806	C	T	90357806	3	4	112	1	0	0	0	0	1	0	0	0	9417	623	22	2	466	2	MDN1	6	90357806	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	457910	90357806	80757261	423	7918											
BACH2	60468	genome.wustl.edu	37	chr6	90660542	90660542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagatcacgctcctcCggtccagctctccctcctgt	9	16	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:90660542C>A	ENST00000257749.4	-	7	1990	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	BACH2_ENST00000343122.3_Missense_Mutation_p.R428L|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.R428L|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	428						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CACGCTCCTCCGGTCCAGCTC	0.602																																																	0								ENSG00000112182						31	34	33					6																	90660542		2202	4295	6497	BACH2	SO:0001583	missense	0			-	HGNC	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1283G>T	6.37:g.90660542C>A	ENSP00000257749:p.Arg428Leu	Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.R428L	ENST00000257749.4	37	c.1283	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354812	0.82243	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.59364	0.27;0.27;0.27	5.56	5.56	0.83823	.	0.050428	0.85682	D	0.000000	T	0.60650	0.2285	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.60326	-0.7285	10	0.42905	T	0.14	-15.8809	19.5376	0.95260	0.0:1.0:0.0:0.0	.	428	Q9BYV9	BACH2_HUMAN	L	428	ENSP00000257749:R428L;ENSP00000437473:R428L;ENSP00000345642:R428L	ENSP00000257749:R428L	R	-	2	0	BACH2	90717263	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	CGG	-	NULL		0.602	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	protein_coding	OTTHUMT00000041522.2	C	NM_021813	-		90660542	-1	no_errors	ENST00000257749	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90660542	C	A	90660542	3	1	112	1	0	0	0	0	1	0	0	0	1284	652	23	3	1254	3	BACH2	6	90660542	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	302736	90660542	80454525	424	7919											
FUT9	10690	genome.wustl.edu	37	chr6	96651317	96651317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggatgccatctcacaacgGaccgttcactgtacaacaaa	7	12	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:96651317G>A	ENST00000302103.5	+	3	612	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	96					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TCTCACAACGGACCGTTCACT	0.483																																					Melanoma(98;1369 1476 6592 22940 26587)												0								ENSG00000172461						151	131	138					6																	96651317		2203	4300	6503	FUT9	SO:0001583	missense	0			-	HGNC	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.286G>A	6.37:g.96651317G>A	ENSP00000302599:p.Asp96Asn	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	18	62.50	Q5T0W4	Missense_Mutation	SNP							pfam_Glyco_trans_10	p.D96N	ENST00000302103.5	37	c.286	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175592	0.78564	.	.	ENSG00000172461	ENST00000302103	T	0.24723	1.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.52126	1.63	0.80722	D	1	D	0.60160	0.987	D	0.67382	0.951	T	0.01484	-1.1343	10	0.17832	T	0.49	-18.2805	18.2419	0.89970	0.0:0.0:1.0:0.0	.	96	Q9Y231	FUT9_HUMAN	N	96	ENSP00000302599:D96N	ENSP00000302599:D96N	D	+	1	0	FUT9	96758038	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.420000	0.97426	2.617000	0.88574	0.655000	0.94253	GAC	-	pfam_Glyco_trans_10		0.483	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	protein_coding	OTTHUMT00000041554.2	G	NM_006581	-		96651317	1	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96651317	G	A	96651317	3	1	112	1	0	0	0	0	1	0	0	0	6113	1174	41	2	288	2	FUT9	6	96651317	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5990775	96651317	74463750	425	7920											
FUT9	10690	genome.wustl.edu	37	chr6	96651363	96651363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagttctgatccatcaccGagacatcagttgggatctga	10	10	4	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:96651363G>A	ENST00000302103.5	+	3	658	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	111					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCCATCACCGAGACATCAGT	0.468																																					Melanoma(98;1369 1476 6592 22940 26587)												0								ENSG00000172461						125	109	115					6																	96651363		2203	4300	6503	FUT9	SO:0001583	missense	0			-	HGNC	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.332G>A	6.37:g.96651363G>A	ENSP00000302599:p.Arg111Gln	Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	18	64.71	Q5T0W4	Missense_Mutation	SNP							pfam_Glyco_trans_10	p.R111Q	ENST00000302103.5	37	c.332	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525396	0.85600	.	.	ENSG00000172461	ENST00000302103	T	0.25579	1.79	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.46952	-0.9154	10	0.44086	T	0.13	-7.5419	18.3049	0.90177	0.0:0.0:1.0:0.0	.	111	Q9Y231	FUT9_HUMAN	Q	111	ENSP00000302599:R111Q	ENSP00000302599:R111Q	R	+	2	0	FUT9	96758084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	CGA	-	pfam_Glyco_trans_10		0.468	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	protein_coding	OTTHUMT00000041554.2	G	NM_006581	-		96651363	1	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96651363	G	A	96651363	3	1	112	1	0	0	0	0	1	0	0	0	6113	1058	37	1	334	1	FUT9	6	96651363	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	46	96651363	74463704	426	7921											
SIM1	6492	genome.wustl.edu	37	chr6	100898230	100898230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaagatgaagccatccagGgtctggggaggcacaaatag	14	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:100898230G>A	ENST00000369208.3	-	4	1043	c.261C>T	c.(259-261)acC>acT	p.T87T	SIM1_ENST00000262901.4_Silent_p.T87T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	87	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCCATCCAGGGTCTGGGGAG	0.512																																																	0								ENSG00000112246						113	107	109					6																	100898230		2203	4300	6503	SIM1	SO:0001819	synonymous_variant	0			-	HGNC	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.261C>T	6.37:g.100898230G>A		Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	Q5TDP7	Silent	SNP							pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.T87	ENST00000369208.3	37	c.261	CCDS5045.1	6																																																																																			-	pfam_PAS_fold,smart_PAS,pfscan_PAS		0.512	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	protein_coding	OTTHUMT00000041628.3	G	NM_005068	-		100898230	-1	no_errors	ENST00000262901	ensembl	human	known	74_37	silent	SNP	0.732	A	A	100898230	G	A	100898230	2	1	112	1	0	0	0	0	0	0	0	1	14331	1219	43	2		2	SIM1	6	100898230	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4246867	100898230	70216837	427	7922											
LAMA4	3910	genome.wustl.edu	37	chr6	112462089	112462089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgctacttagactcGggactgttaaaaacaccttt	8	10	0	1	rs387907365		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:112462089G>A	ENST00000230538.7	-	22	3246	c.2849C>T	c.(2848-2850)cCg>cTg	p.P950L	LAMA4_ENST00000522006.1_Missense_Mutation_p.P943L|LAMA4_ENST00000389463.4_Missense_Mutation_p.P943L|LAMA4_ENST00000424408.2_Missense_Mutation_p.P943L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	950	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		P -> L (in CMD1JJ; loss of integrin- binding capacity). {ECO:0000269|PubMed:17646580}.		blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTTAGACTCGGGACTGTTAA	0.363																																																	0			GRCh37	CM073173	LAMA4	M		ENSG00000112769						110	109	109					6																	112462089		2203	4300	6503	LAMA4	SO:0001583	missense	0			-	HGNC		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2849C>T	6.37:g.112462089G>A	ENSP00000230538:p.Pro950Leu	Somatic	0	91	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.P950L	ENST00000230538.7	37	c.2849	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650148	0.87958	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.81	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.047990	0.85682	D	0.000000	T	0.74801	0.3764	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.917	T	0.76449	-0.2955	10	0.05833	T	0.94	.	16.0686	0.80907	0.0:0.1341:0.8659:0.0	.	950;943	Q16363;Q16363-2	LAMA4_HUMAN;.	L	950;943;943;943	ENSP00000230538:P950L;ENSP00000429488:P943L;ENSP00000374114:P943L;ENSP00000416470:P943L	ENSP00000230538:P950L	P	-	2	0	LAMA4	112568782	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.355000	0.79434	1.452000	0.47756	0.650000	0.86243	CCG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	protein_coding	OTTHUMT00000041876.2	G	NM_001105206	-		112462089	-1	no_errors	ENST00000230538	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112462089	G	A	112462089	3	1	112	1	0	0	0	0	1	0	0	0	8610	1116	39	1	2694	1	LAMA4	6	112462089	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	11563859	112462089	58652978	428	7923											
VGLL2	245806	genome.wustl.edu	37	chr6	117589462	117589462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagccagtataaaagaggaaGaaggcagcccagagaaagag	13	7	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:117589462G>A	ENST00000326274.5	+	2	389	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	VGLL2_ENST00000352536.3_Missense_Mutation_p.E67K	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	67					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAAAGAGGAAGAAGGCAGCCC	0.572																																																	0								ENSG00000170162						111	132	125					6																	117589462		2203	4300	6503	VGLL2	SO:0001583	missense	0			-	HGNC	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.199G>A	6.37:g.117589462G>A	ENSP00000320957:p.Glu67Lys	Somatic	0	118	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.92	Q8WWX1	Missense_Mutation	SNP							pfam_Vg_Tdu	p.E67K	ENST00000326274.5	37	c.199	CCDS5115.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248302	0.80024	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.52754	0.65	5.19	5.19	0.71726	.	0.263447	0.35436	N	0.003201	T	0.24699	0.0599	N	0.19112	0.55	0.47341	D	0.999396	P;P	0.40970	0.59;0.734	B;B	0.37731	0.133;0.257	T	0.07966	-1.0745	10	0.44086	T	0.13	-3.241	18.9072	0.92467	0.0:0.0:1.0:0.0	.	67;67	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	K	67	ENSP00000320957:E67K	ENSP00000320957:E67K	E	+	1	0	VGLL2	117696155	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.335000	0.79234	2.708000	0.92522	0.561000	0.74099	GAA	-	NULL		0.572	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL2	protein_coding	OTTHUMT00000041975.2	G	NM_153453	-		117589462	1	no_errors	ENST00000326274	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117589462	G	A	117589462	3	1	112	1	0	0	0	0	1	0	0	0	17166	943	33	2	205	2	VGLL2	6	117589462	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5127373	117589462	53525605	429	7924											
FAM184A	79632	genome.wustl.edu	37	chr6	119345477	119345477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctccattctgtgtagttCctctgccttttcctggcctt	6	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:119345477C>T	ENST00000338891.7	-	2	1104	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	FAM184A_ENST00000522284.1_Missense_Mutation_p.E101K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E101K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E101K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E221K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	221						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGTGTAGTTCCTCTGCCTTT	0.443																																																	0								ENSG00000111879						136	123	127					6																	119345477		1950	4133	6083	FAM184A	SO:0001583	missense	0			-	HGNC	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.661G>A	6.37:g.119345477C>T	ENSP00000342604:p.Glu221Lys	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP							superfamily_Prefoldin	p.E221K	ENST00000338891.7	37	c.661	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863970	0.32884	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.81	4.94	0.65067	.	0.217508	0.47093	D	0.000259	T	0.20780	0.0500	L	0.59436	1.845	0.35426	D	0.793641	B;B;B	0.31949	0.348;0.348;0.348	B;B;B	0.33042	0.157;0.1;0.157	T	0.07385	-1.0775	10	0.22706	T	0.39	-3.1315	14.8843	0.70555	0.0:0.9311:0.0:0.0689	.	221;101;221	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	221;101;101;221;101	ENSP00000342604:E221K;ENSP00000326608:E101K;ENSP00000357460:E101K;ENSP00000430442:E221K;ENSP00000429826:E101K	ENSP00000342604:E221K	E	-	1	0	FAM184A	119387176	0.999000	0.42202	0.267000	0.24556	0.023000	0.10783	3.132000	0.50523	1.462000	0.47948	0.655000	0.94253	GAA	-	NULL		0.443	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	protein_coding	OTTHUMT00000042009.3	C	NM_024581	-		119345477	-1	no_errors	ENST00000338891	ensembl	human	known	74_37	missense	SNP	0.906	T	T	119345477	C	T	119345477	3	4	112	1	0	0	0	0	1	0	0	0	5513	864	30	2	2829	2	FAM184A	6	119345477	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1756015	119345477	51769590	430	7925											
PTPRK	5796	genome.wustl.edu	37	chr6	128291379	128291379	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagtctcacccaactaagatGattccaggtactccaaagct	7	12	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:128291379G>A	ENST00000368215.3	-	30	4312	c.4313C>T	c.(4312-4314)tCa>tTa	p.S1438L	PTPRK_ENST00000368210.3_Missense_Mutation_p.S1457L|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1471L|PTPRK_ENST00000368226.4_Missense_Mutation_p.S1439L|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1461L|PTPRK_ENST00000368213.5_Missense_Mutation_p.S1445L|PTPRK_ENST00000368227.3_Missense_Mutation_p.S1456L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1438					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAACTAAGATGATTCCAGGTA	0.398																																																	0								ENSG00000152894						112	97	102					6																	128291379		2203	4300	6503	PTPRK	SO:0001583	missense	0			-	HGNC	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4313C>T	6.37:g.128291379G>A	ENSP00000357198:p.Ser1438Leu	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S1456L	ENST00000368215.3	37	c.4367		6	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338537	0.60963	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.12774	2.72;2.65;2.68;2.78;2.7;2.72;2.68	5.17	5.17	0.71159	.	0.130157	0.53938	D	0.000052	T	0.12347	0.0300	M	0.71206	2.165	0.80722	D	1	P;P;B;B	0.41313	0.745;0.481;0.131;0.206	B;B;B;B	0.36567	0.114;0.228;0.026;0.058	T	0.04427	-1.0952	10	0.87932	D	0	.	18.9908	0.92791	0.0:0.0:1.0:0.0	.	1461;1445;1438;1439	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	L	1439;1456;1461;1445;1457;1438;1471	ENSP00000357209:S1439L;ENSP00000357210:S1456L;ENSP00000432973:S1461L;ENSP00000357196:S1445L;ENSP00000357193:S1457L;ENSP00000357198:S1438L;ENSP00000357190:S1471L	ENSP00000357190:S1471L	S	-	2	0	PTPRK	128333072	1.000000	0.71417	0.535000	0.28026	0.960000	0.62799	9.809000	0.99208	2.546000	0.85860	0.655000	0.94253	TCA	-	NULL		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	protein_coding	OTTHUMT00000042163.1	G		-		128291379	-1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	SNP	0.998	A	A	128291379	G	A	128291379	3	1	112	1	0	0	0	0	1	0	0	0	12813	1294	45	2	10	2	PTPRK	6	128291379	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8945902	128291379	42823688	431	7926											
PTPRK	5796	genome.wustl.edu	37	chr6	128316681	128316681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaatcactctggagtgatCatctaaaattttaaaataat	4	6	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:128316681C>T	ENST00000368215.3	-	18	2766	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N	PTPRK_ENST00000368210.3_Missense_Mutation_p.D936N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D950N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D924N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D940N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D924N|PTPRK_ENST00000368227.3_Missense_Mutation_p.D936N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	923	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGGAGTGATCATCtaaaatt	0.323																																																	0								ENSG00000152894						29	31	30					6																	128316681		2192	4278	6470	PTPRK	SO:0001583	missense	0			-	HGNC	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2767G>A	6.37:g.128316681C>T	ENSP00000357198:p.Asp923Asn	Somatic	0	163	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	144	22.87	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D936N	ENST00000368215.3	37	c.2806		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882110|4.882110	0.91740|0.91740	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055|ENST00000415046	T;T;T;T;T;T;T;D|.	0.88586|.	0.7;0.7;0.7;0.7;0.7;0.7;0.7;-2.4|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85716|0.85716	0.5761|0.5761	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;0.997|.	D;D;D;D|.	0.85130|.	0.997;0.995;0.997;0.994|.	D|D	0.87809|0.87809	0.2630|0.2630	10|5	0.87932|.	D|.	0|.	.|.	20.3606|20.3606	0.98856|0.98856	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	940;924;923;924|.	B7ZMG0;Q15262-3;Q15262;Q15262-2|.	.;.;PTPRK_HUMAN;.|.	N|I	924;936;940;924;936;923;950;183|216	ENSP00000357209:D924N;ENSP00000357210:D936N;ENSP00000432973:D940N;ENSP00000357196:D924N;ENSP00000357193:D936N;ENSP00000357198:D923N;ENSP00000357190:D950N;ENSP00000408180:D183N|.	ENSP00000357190:D950N|.	D|M	-|-	1|3	0|0	PTPRK|PTPRK	128358374|128358374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	7.818000|7.818000	0.86416|0.86416	2.817000|2.817000	0.96982|0.96982	0.557000|0.557000	0.71058|0.71058	GAT|ATG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.323	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	protein_coding	OTTHUMT00000042163.1	C		-		128316681	-1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128316681	C	T	128316681	3	4	112	1	0	0	0	0	1	0	0	0	12813	826	29	2	1626	2	PTPRK	6	128316681	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	25302	128316681	42798386	432	7927											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130454605	130454605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcattgaccaggtgcccggGaagaacccaccgtccagcag	11	14	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:130454605G>A	ENST00000529410.1	+	23	2454	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E659K|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E659K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E634K|RP11-73O6.3_ENST00000591297.1_RNA|RP11-73O6.3_ENST00000609978.1_RNA|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E634K|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E634K|RP11-73O6.3_ENST00000415964.1_RNA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	659					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGGTGCCCGGGAAGAACCCAC	0.537																																																	0								ENSG00000198945						85	75	78					6																	130454605		2203	4300	6503	L3MBTL3	SO:0001583	missense	0			-	HGNC	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1975G>A	6.37:g.130454605G>A	ENSP00000431962:p.Glu659Lys	Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	36	42.86	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP							pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.E659K	ENST00000529410.1	37	c.1975	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974969	0.53720	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14266	2.52;2.53;2.52;2.53;2.53;2.52	5.22	5.22	0.72569	.	0.659719	0.16063	N	0.231379	T	0.04272	0.0118	L	0.34521	1.04	0.45035	D	0.998056	B;B	0.20887	0.001;0.049	B;B	0.23275	0.002;0.045	T	0.22417	-1.0217	10	0.10902	T	0.67	.	11.7582	0.51888	0.0819:0.0:0.9181:0.0	.	634;659	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	K	659;634;659;634;634;659	ENSP00000431962:E659K;ENSP00000437185:E634K;ENSP00000354526:E659K;ENSP00000357121:E634K;ENSP00000436706:E634K;ENSP00000357118:E659K	ENSP00000354526:E659K	E	+	1	0	L3MBTL3	130496298	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.338000	0.72963	2.580000	0.87095	0.561000	0.74099	GAA	-	NULL		0.537	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	protein_coding	OTTHUMT00000042195.2	G	XM_027074	-		130454605	1	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	SNP	1.000	A	A	130454605	G	A	130454605	3	1	112	1	0	0	0	0	1	0	0	0	8595	1175	41	2	2049	2	L3MBTL3	6	130454605	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2137924	130454605	40660462	433	7928											
PDE7B	27115	genome.wustl.edu	37	chr6	136508238	136508238	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcaacagaaagattccatCcctagtatacaaattggtga	6	8	1	3	rs267600826		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:136508238C>T	ENST00000308191.6	+	12	1413	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	370	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AAGATTCCATCCCTAGTATAC	0.328																																																	0								ENSG00000171408	C		1,4405	2.1+/-5.4	0,1,2202	90	96	94		1110	0	1	6		94	0,8600		0,0,4300	no	coding-synonymous	PDE7B	NM_018945.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		370/451	136508238	1,13005	2203	4300	6503	PDE7B	SO:0001819	synonymous_variant	0			-	HGNC	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1110C>T	6.37:g.136508238C>T		Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	46	33.33	Q5W154	Silent	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.I370	ENST00000308191.6	37	c.1110	CCDS5175.1	6																																																																																			-	pfam_PDEase_catalytic_dom		0.328	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	protein_coding	OTTHUMT00000042371.1	C		-		136508238	1	no_errors	ENST00000308191	ensembl	human	known	74_37	silent	SNP	0.998	T	T	136508238	C	T	136508238	2	4	112	1	0	0	0	0	0	0	0	1	11654	845	30	2		2	PDE7B	6	136508238	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6053633	136508238	34606829	434	7929											
MAP7	9053	genome.wustl.edu	37	chr6	136667182	136667182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcattctgaacagatacaCcattttcatttggttgtttt	5	7	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:136667182C>T	ENST00000354570.3	-	17	2461	c.2051G>A	c.(2050-2052)gGt>gAt	p.G684D	MAP7_ENST00000438100.2_Missense_Mutation_p.G669D|MAP7_ENST00000544465.1_Missense_Mutation_p.G669D|MAP7_ENST00000432797.2_Missense_Mutation_p.G538D|MAP7_ENST00000454590.1_Missense_Mutation_p.G706D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	684					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACAGATACACCATTTTCATT	0.313																																																	0								ENSG00000135525						46	49	48					6																	136667182		2202	4300	6502	MAP7	SO:0001583	missense	0			-	HGNC	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2051G>A	6.37:g.136667182C>T	ENSP00000346581:p.Gly684Asp	Somatic	0	119	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	55	40.22	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP							pfam_MAP7	p.G706D	ENST00000354570.3	37	c.2117	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405021	0.83230	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000047	T	0.18299	0.0439	M	0.63843	1.955	0.52099	D	0.999948	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	0.998;0.998;1.0;0.999;0.999;0.999;0.999	T	0.00426	-1.1746	10	0.87932	D	0	-27.8389	19.8666	0.96804	0.0:1.0:0.0:0.0	.	669;706;669;706;590;647;684	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	D	684;706;669;669;538;590	ENSP00000346581:G684D;ENSP00000414712:G706D;ENSP00000445737:G669D;ENSP00000400790:G669D;ENSP00000414879:G538D	ENSP00000344217:G590D	G	-	2	0	MAP7	136708875	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.650000	0.67944	2.702000	0.92279	0.563000	0.77884	GGT	-	NULL		0.313	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	protein_coding	OTTHUMT00000042382.2	C	NM_003980	-		136667182	-1	no_errors	ENST00000454590	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136667182	C	T	136667182	3	4	112	1	0	0	0	0	1	0	0	0	9268	507	18	2	206	2	MAP7	6	136667182	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	158944	136667182	34447885	435	7930											
MAP3K5	4217	genome.wustl.edu	37	chr6	136944022	136944022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggatttccttaatagcaattCtgacttggttgctcaagtcc	8	9	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:136944022C>T	ENST00000359015.4	-	15	2474	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	MAP3K5_ENST00000355845.4_Intron	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	705	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AATAGCAATTCTGACTTGGTT	0.398																																																	0								ENSG00000197442						192	189	190					6																	136944022		2203	4300	6503	MAP3K5	SO:0001583	missense	0			-	HGNC	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2114G>A	6.37:g.136944022C>T	ENSP00000351908:p.Arg705Lys	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R705K	ENST00000359015.4	37	c.2114	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831270	0.91036	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.64260	-0.09	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045384	0.85682	D	0.000000	T	0.58694	0.2140	N	0.11845	0.185	0.80722	D	1	B;P	0.49447	0.252;0.924	B;D	0.72075	0.35;0.976	T	0.59500	-0.7443	10	0.30078	T	0.28	.	20.3422	0.98769	0.0:1.0:0.0:0.0	.	785;705	Q59GL6;Q99683	.;M3K5_HUMAN	K	705;785	ENSP00000351908:R705K	ENSP00000351908:R705K	R	-	2	0	MAP3K5	136985715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.810000	0.96702	0.655000	0.94253	AGA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.398	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	C		-		136944022	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136944022	C	T	136944022	3	4	112	1	0	0	0	0	1	0	0	0	9255	913	32	2	2074	2	MAP3K5	6	136944022	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	276840	136944022	34171045	436	7931											
KIAA1244	57221	genome.wustl.edu	37	chr6	138612978	138612978	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccactggaagcgctggcctCcttggggaccccgagtgtga	15	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:138612978C>T	ENST00000251691.4	+	19	3322	c.3156C>T	c.(3154-3156)ctC>ctT	p.L1052L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGCTGGCCTCCTTGGGGACC	0.692																																																	0								ENSG00000112379						17	18	17					6																	138612978		2198	4292	6490	KIAA1244	SO:0001819	synonymous_variant	0			-	HGNC	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3156C>T	6.37:g.138612978C>T		Somatic	0	21	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67		Silent	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.L1052	ENST00000251691.4	37	c.3156	CCDS5189.2	6																																																																																			-	superfamily_ARM-type_fold		0.692	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	protein_coding	OTTHUMT00000042425.4	C	NM_020340	-		138612978	1	no_errors	ENST00000251691	ensembl	human	known	74_37	silent	SNP	0.039	T	T	138612978	C	T	138612978	2	4	112	1	0	0	0	0	0	0	0	1	8219	842	30	2		2	KIAA1244	6	138612978	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1668956	138612978	32502089	437	7932											
C6orf97	80129	genome.wustl.edu	37	chr6	151894524	151894524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcatttagggagaaaatCgcagccctccttaggggcag	11	10	1	1	rs377676781		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:151894524C>T	ENST00000239374.7	+	6	1089	c.990C>T	c.(988-990)atC>atT	p.I330I	CCDC170_ENST00000367290.5_Silent_p.I330I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	330																	GGGAGAAAATCGCAGCCCTCC	0.498																																																	0								ENSG00000120262	C		1,3959		0,1,1979	77	82	80		990	-3.4	0	6		80	0,8278		0,0,4139	no	coding-synonymous	C6orf97	NM_025059.3		0,1,6118	TT,TC,CC		0.0,0.0253,0.0082		330/716	151894524	1,12237	1980	4139	6119	CCDC170	SO:0001819	synonymous_variant	0			-	HGNC	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.990C>T	6.37:g.151894524C>T		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP							superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.I330	ENST00000239374.7	37	c.990	CCDS43515.1	6																																																																																			-	NULL		0.498	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	protein_coding	OTTHUMT00000042727.2	C	NM_025059	-		151894524	1	no_errors	ENST00000367290	ensembl	human	known	74_37	silent	SNP	0.001	T	T	151894524	C	T	151894524	2	4	112	1	0	0	0	0	0	0	0	1	2376	874	31	1		1	C6orf97	6	151894524	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	13281546	151894524	19220543	438	7933											
CNKSR3	154043	genome.wustl.edu	37	chr6	154751693	154751693	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgtggtagatcggatTgttttgtcacagatgccatt	12	6	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:154751693T>G	ENST00000607772.1	-	6	1126	c.582A>C	c.(580-582)acA>acC	p.T194T	CNKSR3_ENST00000479339.1_Silent_p.T114T|CNKSR3_ENST00000433165.2_Silent_p.T19T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	194					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TAGATCGGATTGTTTTGTCAC	0.398																																																	0								ENSG00000153721						127	116	120					6																	154751693		2203	4300	6503	CNKSR3	SO:0001819	synonymous_variant	0			-	HGNC	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.582A>C	6.37:g.154751693T>G		Somatic	0	103	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	78	33.33	Q5SGD5|Q96N65	Silent	SNP							pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.T194	ENST00000607772.1	37	c.582	CCDS5246.1	6																																																																																			-	superfamily_PDZ		0.398	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	protein_coding	OTTHUMT00000042792.2	T	NM_173515	-		154751693	-1	no_errors	ENST00000607772	ensembl	human	known	74_37	silent	SNP	0.924	G	G	154751693	T	G	154751693	2	3	112	1	0	0	0	0	0	0	0	1	3610	1799	63	5		5	CNKSR3	6	154751693	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2857169	154751693	16363374	439	7934											
PACRG	135138	genome.wustl.edu	37	chr6	163235240	163235240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccaagcccacagcatttcGaaaattctatgagcgaggtg	9	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:163235240G>A	ENST00000337019.3	+	3	442	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Missense_Mutation_p.R73Q|PACRG_ENST00000366889.2_Missense_Mutation_p.R73Q	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	73					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.R73Q(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACAGCATTTCGAAAATTCTAT	0.468																																																	1	Substitution - Missense(1)	urinary_tract(1)						ENSG00000112530						104	109	107					6																	163235240		2203	4300	6503	PACRG	SO:0001583	missense	0			-	HGNC	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.218G>A	6.37:g.163235240G>A	ENSP00000337946:p.Arg73Gln	Somatic	0	168	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	84	39.86	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP							pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.R73Q	ENST00000337019.3	37	c.218	CCDS5284.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.260726	0.95368	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T	0.52057	0.68	5.66	5.66	0.87406	.	0.061993	0.64402	D	0.000004	T	0.67608	0.2911	M	0.81942	2.565	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	P;D	0.80764	0.876;0.994	T	0.69709	-0.5072	10	0.59425	D	0.04	-9.399	19.7468	0.96255	0.0:0.0:1.0:0.0	.	73;73	Q96M98-2;Q96M98	.;PACRG_HUMAN	Q	73	ENSP00000337946:R73Q	ENSP00000337946:R73Q	R	+	2	0	PACRG	163155230	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	6.715000	0.74697	2.678000	0.91216	0.563000	0.77884	CGA	-	pfam_Parkin_co-regulated_protein		0.468	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	protein_coding	OTTHUMT00000400424.1	G	NM_152410	-		163235240	1	no_errors	ENST00000337019	ensembl	human	known	74_37	missense	SNP	1.000	A	A	163235240	G	A	163235240	3	1	112	1	0	0	0	0	1	0	0	0	11372	1058	37	1	224	1	PACRG	6	163235240	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8483547	163235240	7879827	440	7935											
PDE10A	10846	genome.wustl.edu	37	chr6	165846605	165846605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccagtccagtacctcttgGaaatcgttcatcctgaaaaa	6	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:165846605G>A	ENST00000366882.1	-	8	674	c.520C>T	c.(520-522)Cca>Tca	p.P174S	PDE10A_ENST00000539869.2_Missense_Mutation_p.P184S|PDE10A_ENST00000354448.4_Missense_Mutation_p.P174S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	174	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTACCTCTTGGAAATCGTTCA	0.368																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0								ENSG00000112541						86	83	84					6																	165846605		2203	4300	6503	PDE10A	SO:0001583	missense	0			-	HGNC	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.520C>T	6.37:g.165846605G>A	ENSP00000355847:p.Pro174Ser	Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.P184S	ENST00000366882.1	37	c.550		6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152122	0.78001	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;D;T	0.95447	-0.11;-3.71;-0.11	5.79	5.79	0.91817	GAF (2);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	D	0.93261	0.6643	10	0.14252	T	0.57	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	184;174	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	174;202;184;174;173	ENSP00000355847:P174S;ENSP00000438284:P202S;ENSP00000346435:P174S	ENSP00000341187:P184S	P	-	1	0	PDE10A	165766595	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	9.507000	0.97996	2.741000	0.93983	0.585000	0.79938	CCA	-	pfam_GAF,smart_GAF		0.368	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	protein_coding	OTTHUMT00000043031.1	G		-		165846605	-1	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	SNP	1.000	A	A	165846605	G	A	165846605	3	1	112	1	0	0	0	0	1	0	0	0	11632	1174	41	2	1883	2	PDE10A	6	165846605	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2611365	165846605	5268462	441	7936											
SUN1	23353	genome.wustl.edu	37	chr7	857107	857107	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccgtcatggggaggatttCtcccggctccccagggctcc	12	16	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:857107C>T	ENST00000457378.2	+	2	250	c.14C>T	c.(13-15)tCt>tTt	p.S5F	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000389574.3_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGAGGATTTCTCCCGGCTCC	0.627																																																	0								ENSG00000164828																																			SUN1	SO:0001583	missense	0			-	HGNC	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000457378.2:c.14C>T	7.37:g.857107C>T	ENSP00000395952:p.Ser5Phe	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	62	51.56	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP							pfam_SUN1	p.S5F	ENST00000457378.2	37	c.14	CCDS55078.1	7	.	.	.	.	.	.	.	.	.	.	C	9.211	1.030915	0.19590	.	.	ENSG00000164828	ENST00000457378	T	0.47869	0.83	0.225	0.225	0.15325	.	.	.	.	.	T	0.36166	0.0957	N	0.08118	0	0.09310	N	0.999997	P	0.42518	0.782	P	0.51895	0.683	T	0.29150	-1.0021	8	0.87932	D	0	.	.	.	.	.	5	F8WD13	.	F	5	ENSP00000395952:S5F	ENSP00000395952:S5F	S	+	2	0	SUN1	823633	0.005000	0.15991	0.016000	0.15963	0.016000	0.09150	-0.311000	0.08124	0.300000	0.22699	0.305000	0.20034	TCT	-	NULL		0.627	SUN1-205	KNOWN	basic|CCDS	protein_coding	SUN1	protein_coding		C	NM_025154	-		857107	1	no_errors	ENST00000457378	ensembl	human	known	74_37	missense	SNP	0.017	T	T	857107	C	T	857107	3	4	112	1	0	0	0	0	1	0	0	0	15398	913	32	2	16	2	SUN1	7	857107	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		857107	158281556	442	7937											
CYP2W1	54905	genome.wustl.edu	37	chr7	1024181	1024181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgaccggcctcccatcgCcatcttccagctcatccagc	8	20	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:1024181C>T	ENST00000308919.7	+	2	321	c.308C>T	c.(307-309)gCc>gTc	p.A103V	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A47V	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	103					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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 (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCTCCCATCGCCATCTTCCAG	0.721																																																	0								ENSG00000073067						10	13	12					7																	1024181		2099	4190	6289	CYP2W1	SO:0001583	missense	0			-	HGNC	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.308C>T	7.37:g.1024181C>T	ENSP00000310149:p.Ala103Val	Somatic	0	23	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00		Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A103V	ENST00000308919.7	37	c.308	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142369	0.37825	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.70164	-0.46;-0.46	5.3	4.42	0.53409	.	0.215480	0.49305	D	0.000155	T	0.63248	0.2495	L	0.40543	1.245	0.09310	N	0.999994	B;P	0.45212	0.409;0.853	B;P	0.48141	0.281;0.568	T	0.58544	-0.7618	10	0.87932	D	0	.	9.4837	0.38917	0.0:0.7804:0.1433:0.0763	.	47;103	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	V	103;47	ENSP00000310149:A103V;ENSP00000344178:A47V	ENSP00000310149:A103V	A	+	2	0	CYP2W1	990707	0.306000	0.24490	0.805000	0.32314	0.978000	0.69477	1.821000	0.39041	1.220000	0.43490	0.478000	0.44815	GCC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	protein_coding	OTTHUMT00000157249.1	C	NM_017781	-		1024181	1	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	SNP	0.428	T	T	1024181	C	T	1024181	3	4	112	1	0	0	0	0	1	0	0	0	4178	739	26	2	314	2	CYP2W1	7	1024181	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	167074	1024181	158114482	443	7938											
INTS1	26173	genome.wustl.edu	37	chr7	1533470	1533470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcccgagcgggagctccCgggacagcccgatgaccagg	16	15	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:1533470C>A	ENST00000404767.3	-	15	2073	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	INTS1_ENST00000389470.4_Missense_Mutation_p.R791L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	663					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGGAGCTCCCGGGACAGCCC	0.667																																																	0								ENSG00000164880						14	21	19					7																	1533470		2036	4172	6208	INTS1	SO:0001583	missense	0			-	HGNC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1988G>T	7.37:g.1533470C>A	ENSP00000385722:p.Arg663Leu	Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	45	58.33	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP							pfam_DUF3677,superfamily_ARM-type_fold	p.R791L	ENST00000404767.3	37	c.2372	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.591238	0.96590	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66638	-0.22;-0.22	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	L	0.44542	1.39	0.80722	D	1	D;D	0.59357	0.964;0.985	P;P	0.59546	0.801;0.859	T	0.77645	-0.2510	10	0.72032	D	0.01	.	18.3788	0.90443	0.0:1.0:0.0:0.0	.	791;663	A4D213;Q8N201	.;INT1_HUMAN	L	663;791	ENSP00000385722:R663L;ENSP00000374121:R791L	ENSP00000374121:R791L	R	-	2	0	INTS1	1499996	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	7.758000	0.85224	2.324000	0.78689	0.561000	0.74099	CGG	-	NULL		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	protein_coding	OTTHUMT00000323683.1	C		-		1533470	-1	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	SNP	0.984	A	A	1533470	C	A	1533470	3	1	112	1	0	0	0	0	1	0	0	0	7777	652	23	3	4720	3	INTS1	7	1533470	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	509289	1533470	157605193	444	7939											
CARD11	84433	genome.wustl.edu	37	chr7	2987421	2987421	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccatctctggccctcctCcttttagacataaaccccaa	3	17	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:2987421C>T	ENST00000396946.4	-	3	411	c.8G>A	c.(7-9)gGa>gAa	p.G3E	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	3					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGCCCTCCTCCTTTTAGACA	0.458			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0								ENSG00000198286						147	134	138					7																	2987421		2203	4300	6503	CARD11	SO:0001630	splice_region_variant	0			-	HGNC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.8-1G>A	7.37:g.2987421C>T		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	30	54.55	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.G3E	ENST00000396946.4	37	c.8	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251033	0.22880	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.61040	1.09;0.14	4.77	4.77	0.60923	.	0.485158	0.21058	N	0.080871	T	0.48466	0.1501	L	0.40543	1.245	0.50039	D	0.999844	B	0.23128	0.08	B	0.24155	0.051	T	0.41324	-0.9515	10	0.27785	T	0.31	.	13.3121	0.60386	0.0:1.0:0.0:0.0	.	3	Q9BXL7	CAR11_HUMAN	E	3	ENSP00000380150:G3E;ENSP00000348779:G3E	ENSP00000348779:G3E	G	-	2	0	CARD11	2953947	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	1.233000	0.32648	2.193000	0.70182	0.561000	0.74099	GGA	-	NULL		0.458	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	protein_coding	OTTHUMT00000059344.4	C	NM_032415	-	Missense_Mutation	2987421	-1	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2987421	C	T	2987421	5	4	112	1	0	0	0	0	0	0	1	0	2647	869	30	2	3548	2	CARD11	7	2987421	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1453951	2987421	156151242	445	7940											
MMD2	221938	genome.wustl.edu	37	chr7	4950810	4950810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacatagatggtgcccaCggaagccataatccagacca	10	11	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:4950810C>T	ENST00000404774.3	-	5	627	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	MMD2_ENST00000406755.1_Missense_Mutation_p.V145M|MMD2_ENST00000401401.3_Missense_Mutation_p.V145M	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	145						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ATGGTGCCCACGGAAGCCATA	0.622																																																	0								ENSG00000136297						22	26	24					7																	4950810		1929	4133	6062	MMD2	SO:0001583	missense	0			-	HGNC	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.433G>A	7.37:g.4950810C>T	ENSP00000384690:p.Val145Met	Somatic	0	161	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	110	30.82	B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP							pfam_HlyIII-related	p.V145M	ENST00000404774.3	37	c.433	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043530	0.19748	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.31769	1.48;1.48;1.48	5.51	3.67	0.42095	.	0.520122	0.19526	N	0.112161	T	0.34164	0.0888	L	0.28649	0.875	0.09310	N	1	D;P;B	0.58970	0.984;0.945;0.082	P;P;B	0.57911	0.829;0.475;0.017	T	0.07558	-1.0766	10	0.31617	T	0.26	-19.7377	10.2205	0.43194	0.0:0.7729:0.0:0.2271	.	145;145;145	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	M	145	ENSP00000384690:V145M;ENSP00000385963:V145M;ENSP00000384141:V145M	ENSP00000384141:V145M	V	-	1	0	MMD2	4917336	0.000000	0.05858	0.002000	0.10522	0.519000	0.34347	0.330000	0.19715	1.297000	0.44761	0.655000	0.94253	GTG	-	pfam_HlyIII-related		0.622	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	protein_coding	OTTHUMT00000324136.1	C	NM_198403	-		4950810	-1	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	SNP	0.001	T	T	4950810	C	T	4950810	3	4	112	1	0	0	0	0	1	0	0	0	9646	536	19	1	391	1	MMD2	7	4950810	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1963389	4950810	154187853	446	7941											
TNRC18	84629	genome.wustl.edu	37	chr7	5401627	5401627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggaagtccagctccaggGcgtccatgtcctccagggag	13	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:5401627G>A	ENST00000430969.1	-	13	4781	c.4433C>T	c.(4432-4434)gCc>gTc	p.A1478V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A1478V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1478							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGCTCCAGGGCGTCCATGTC	0.657																																																	0								ENSG00000182095						25	29	27					7																	5401627		2074	4193	6267	TNRC18	SO:0001583	missense	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4433C>T	7.37:g.5401627G>A	ENSP00000395538:p.Ala1478Val	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A1478V	ENST00000430969.1	37	c.4433	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.223134	0.95139	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.21734	2.53;2.53;1.99	5.52	5.52	0.82312	.	0.000000	0.44285	D	0.000477	T	0.47002	0.1422	M	0.77103	2.36	0.54753	D	0.999981	D	0.67145	0.996	P	0.60609	0.877	T	0.41251	-0.9519	10	0.48119	T	0.1	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1478	O15417	TNC18_HUMAN	V	1478;1478;533;11	ENSP00000382452:A1478V;ENSP00000395538:A1478V;ENSP00000395990:A11V	ENSP00000382452:A1478V	A	-	2	0	TNRC18	5368153	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.735000	0.74806	2.606000	0.88127	0.561000	0.74099	GCC	-	NULL		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		G		-		5401627	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5401627	G	A	5401627	3	1	112	1	0	0	0	0	1	0	0	0	16346	1203	42	2	4545	2	TNRC18	7	5401627	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	450817	5401627	153737036	447	7942											
GLCCI1	113263	genome.wustl.edu	37	chr7	8125883	8125883	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaaaaacaaggttaatttCatcccaaccggatcagcttt	6	10	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:8125883C>T	ENST00000223145.5	+	8	1916	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	453						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGGTTAATTTCATCCCAACCG	0.433																																																	0								ENSG00000106415						152	169	163					7																	8125883		2203	4300	6503	GLCCI1	SO:0001819	synonymous_variant	0			-	HGNC	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1359C>T	7.37:g.8125883C>T		Somatic	0	21	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	14	60.00	A4D103|Q96FD0	Silent	SNP							NULL	p.F453	ENST00000223145.5	37	c.1359	CCDS34601.1	7																																																																																			-	NULL		0.433	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	protein_coding	OTTHUMT00000324672.1	C	NM_138426	-		8125883	1	no_errors	ENST00000223145	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8125883	C	T	8125883	2	4	112	1	0	0	0	0	0	0	0	1	6433	825	29	2		2	GLCCI1	7	8125883	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2724256	8125883	151012780	448	7943											
ABCB5	340273	genome.wustl.edu	37	chr7	20668438	20668438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgataaccttattagtgGatgtctagtccaaactaaca	8	7	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:20668438G>A	ENST00000404938.2	+	4	888	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	79	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTATTAGTGGATGTCTAGTC	0.383																																																	0								ENSG00000004846						135	116	122					7																	20668438		1568	3582	5150	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.236G>A	7.37:g.20668438G>A	ENSP00000384881:p.Gly79Glu	Somatic	0	132	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	62	50.40	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G79E	ENST00000404938.2	37	c.236	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796785	0.16327	.	.	ENSG00000004846	ENST00000404938	D	0.86769	-2.17	4.29	2.29	0.28610	.	.	.	.	.	T	0.72095	0.3418	N	0.14661	0.345	0.39835	D	0.97302	B	0.16603	0.018	B	0.16722	0.016	T	0.63642	-0.6591	9	0.28530	T	0.3	.	4.5438	0.12071	0.1143:0.0:0.6678:0.2178	.	79	A7BKA4	.	E	79	ENSP00000384881:G79E	ENSP00000384881:G79E	G	+	2	0	ABCB5	20634963	0.924000	0.31332	0.940000	0.37924	0.948000	0.59901	0.271000	0.18626	1.121000	0.41925	0.460000	0.39030	GGA	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.383	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	G	NM_178559	-		20668438	1	no_errors	ENST00000404938	ensembl	human	putative	74_37	missense	SNP	0.687	A	A	20668438	G	A	20668438	3	1	112	1	0	0	0	0	1	0	0	0	44	1174	41	2	246	2	ABCB5	7	20668438	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	12542555	20668438	138470225	449	7944											
HOXA5	3202	genome.wustl.edu	37	chr7	27181527	27181527	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcttttttccacttcattCtccggttttggaaccagatt	5	10	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:27181527C>T	ENST00000222726.3	-	2	800	c.740G>A	c.(739-741)aGa>aAa	p.R247K	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	247					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCACTTCATTCTCCGGTTTTG	0.473											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(119;75 2200 7557 42868)												0								ENSG00000106004						121	120	120					7																	27181527		2203	4300	6503	HOXA5	SO:0001583	missense	0			-	HGNC		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"Homeoboxes / ANTP class : HOXL subclass"	5106	protein-coding gene	gene with protein product		142952	"homeo box A5"	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.740G>A	7.37:g.27181527C>T	ENSP00000222726:p.Arg247Lys	Somatic	0	54	0	792	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	A4D179|O43367|Q96CY6	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R247K	ENST00000222726.3	37	c.740	CCDS5406.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389352	0.82902	.	.	ENSG00000106004	ENST00000222726	D	0.98862	-5.19	4.96	4.96	0.65561	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.99090	4.425	0.80722	D	1	D	0.67145	0.996	D	0.85130	0.997	D	0.97498	1.0058	10	0.87932	D	0	.	18.5631	0.91108	0.0:1.0:0.0:0.0	.	247	P20719	HXA5_HUMAN	K	247	ENSP00000222726:R247K	ENSP00000222726:R247K	R	-	2	0	HOXA5	27148052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.471000	0.83476	0.543000	0.68304	AGA	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.473	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA5	protein_coding	OTTHUMT00000358705.1	C		-		27181527	-1	no_errors	ENST00000222726	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27181527	C	T	27181527	3	4	112	1	0	0	0	0	1	0	0	0	7297	913	32	2	76	2	HOXA5	7	27181527	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6513089	27181527	131957136	450	7945											
INMT	11185	genome.wustl.edu	37	chr7	30793389	30793389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgacattggctcaggtcCtaccatctaccaagttcttg	8	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:30793389C>T	ENST00000013222.5	+	2	213	c.197C>T	c.(196-198)cCt>cTt	p.P66L	INMT_ENST00000409539.1_Missense_Mutation_p.P65L|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.P65L	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	66					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.P66L(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGCTCAGGTCCTACCATCTAC	0.532																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000241644						277	251	260					7																	30793389		2203	4300	6503	INMT	SO:0001583	missense	0			-	HGNC		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.197C>T	7.37:g.30793389C>T	ENSP00000013222:p.Pro66Leu	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	60	25.61	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP							pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.P66L	ENST00000013222.5	37	c.197	CCDS5430.1	7	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333822	0.60853	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.18174	2.23;2.23	4.07	2.24	0.28232	.	0.000000	0.64402	D	0.000018	T	0.42154	0.1190	M	0.88775	2.98	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.27905	-1.0060	10	0.87932	D	0	-8.8018	6.7024	0.23232	0.1766:0.7261:0.0:0.0972	.	65;66	B8ZZ69;O95050	.;INMT_HUMAN	L	66;65	ENSP00000013222:P66L;ENSP00000386961:P65L	ENSP00000013222:P66L	P	+	2	0	INMT	30759914	0.980000	0.34600	0.284000	0.24805	0.719000	0.41307	2.542000	0.45744	0.470000	0.27294	-0.136000	0.14681	CCT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans		0.532	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	protein_coding	OTTHUMT00000214993.3	C	NM_006774	-		30793389	1	no_errors	ENST00000013222	ensembl	human	known	74_37	missense	SNP	0.992	T	T	30793389	C	T	30793389	3	4	112	1	0	0	0	0	1	0	0	0	7747	681	24	2	203	2	INMT	7	30793389	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3611862	30793389	128345274	451	7946											
FAM188B	84182	genome.wustl.edu	37	chr7	30911898	30911898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaccagccacctgattGgagcacatggctactgtaca	8	15	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:30911898G>A	ENST00000265299.6	+	14	1863	c.1786G>A	c.(1786-1788)Gga>Aga	p.G596R	AQP1_ENST00000509504.1_Missense_Mutation_p.G59R|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	596										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACCTGATTGGAGCACATGG	0.602																																																	0								ENSG00000106125						53	56	55					7																	30911898		2022	4164	6186	FAM188B	SO:0001583	missense	0			-	HGNC	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1786G>A	7.37:g.30911898G>A	ENSP00000265299:p.Gly596Arg	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	Q71AZ7|Q9H6D2	Missense_Mutation	SNP							NULL	p.G596R	ENST00000265299.6	37	c.1786	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570735	0.86542	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.33216	1.42;1.42	5.3	5.3	0.74995	.	0.108079	0.64402	D	0.000006	T	0.59865	0.2225	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66118	-0.6003	10	0.87932	D	0	-17.1996	14.4737	0.67533	0.0:0.0:1.0:0.0	.	116;596	B8ZZX1;Q4G0A6	.;F188B_HUMAN	R	596;116;59	ENSP00000265299:G596R;ENSP00000421315:G59R	ENSP00000265299:G596R	G	+	1	0	RP5-877J2.1;FAM188B	30878423	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.564000	0.90726	2.478000	0.83669	0.563000	0.77884	GGA	-	NULL		0.602	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	protein_coding	OTTHUMT00000327962.1	G	NM_032222	-		30911898	1	no_errors	ENST00000265299	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30911898	G	A	30911898	3	1	112	1	0	0	0	0	1	0	0	0	5517	1349	47	2	1840	2	FAM188B	7	30911898	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	118509	30911898	128226765	452	7947											
PDE1C	5137	genome.wustl.edu	37	chr7	31887593	31887593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccttacctccagtcatcCtttgagaggttaatcaaaat	5	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:31887593C>T	ENST00000396191.1	-	9	1424	c.969G>A	c.(967-969)aaG>aaA	p.K323K	PDE1C_ENST00000321453.7_Silent_p.K323K|PDE1C_ENST00000396184.3_Silent_p.K323K|PDE1C_ENST00000396193.1_Silent_p.K383K|PDE1C_ENST00000396182.2_Silent_p.K323K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	323	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCCAGTCATCCTTTGAGAGGT	0.393																																																	0								ENSG00000154678						107	98	101					7																	31887593		2203	4300	6503	PDE1C	SO:0001819	synonymous_variant	0			-	HGNC	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.969G>A	7.37:g.31887593C>T		Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	67	15.19	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.K323	ENST00000396191.1	37	c.969	CCDS55099.1	7																																																																																			-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.393	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	C		-		31887593	-1	no_errors	ENST00000321453	ensembl	human	known	74_37	silent	SNP	0.999	T	T	31887593	C	T	31887593	2	4	112	1	0	0	0	0	0	0	0	1	11637	680	24	2		2	PDE1C	7	31887593	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	975695	31887593	127251070	453	7948											
EEPD1	80820	genome.wustl.edu	37	chr7	36324296	36324296	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtctccctctccgctgcaggGagctgggtatgcaggattcc	13	13	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:36324296G>T	ENST00000242108.4	+	5	1761	c.1043G>T	c.(1042-1044)gGa>gTa	p.G348V	EEPD1_ENST00000534978.1_Splice_Site_p.G348V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	348					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCGCTGCAGGGAGCTGGGTAT	0.647																																																	0								ENSG00000122547																																			EEPD1	SO:0001630	splice_region_variant	0			-	HGNC	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1042-1G>T	7.37:g.36324296G>T		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	46	50.00	Q96K64|Q9C0F7	Missense_Mutation	SNP							pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.G348V	ENST00000242108.4	37	c.1043	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	G	9.417	1.081946	0.20309	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.96041	-3.89;-3.89	4.88	3.93	0.45458	Endonuclease/exonuclease/phosphatase (2);	0.363355	0.31051	N	0.008353	D	0.92133	0.7506	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	D	0.89168	0.3535	10	0.39692	T	0.17	-30.2658	12.9951	0.58642	0.0:0.1619:0.8381:0.0	.	348	Q7L9B9	EEPD1_HUMAN	V	348	ENSP00000242108:G348V;ENSP00000442692:G348V	ENSP00000242108:G348V	G	+	2	0	EEPD1	36290821	1.000000	0.71417	0.932000	0.37286	0.025000	0.11179	5.273000	0.65564	2.421000	0.82119	0.561000	0.74099	GGA	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.647	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	protein_coding	OTTHUMT00000337602.1	G	NM_030636	-	Missense_Mutation	36324296	1	no_errors	ENST00000242108	ensembl	human	known	74_37	missense	SNP	0.934	T	T	36324296	G	T	36324296	5	4	112	1	0	0	0	0	0	0	1	0	4934	1188	41	3	1057	3	EEPD1	7	36324296	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4436703	36324296	122814367	454	7949											
C7orf36	57002	genome.wustl.edu	37	chr7	39612146	39612146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaactgtagcaagagCcatagtgggatagattgttc	10	6	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:39612146C>T	ENST00000223273.2	+	3	565	c.522C>T	c.(520-522)agC>agT	p.S174S	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	174																	GTAGCAAGAGCCATAGTGGGA	0.393																																																	0								ENSG00000241127						104	105	105					7																	39612146		2203	4300	6503	YAE1D1	SO:0001819	synonymous_variant	0			-	HGNC	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.522C>T	7.37:g.39612146C>T		Somatic	0	140	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	103	15.45	A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP							pfam_Essential_protein_Yae1_N	p.S174	ENST00000223273.2	37	c.522	CCDS5459.1	7																																																																																			-	NULL		0.393	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAE1D1	protein_coding	OTTHUMT00000250586.1	C	NM_020192	-		39612146	1	no_errors	ENST00000223273	ensembl	human	known	74_37	silent	SNP	0.000	T	T	39612146	C	T	39612146	2	4	112	1	0	0	0	0	0	0	0	1	2392	738	26	2		2	C7orf36	7	39612146	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3287850	39612146	119526517	455	7950											
ABCA13	154664	genome.wustl.edu	37	chr7	48314785	48314785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaattcaaagatagacccctGcaatgtccatgggctcatgt	9	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:48314785G>T	ENST00000435803.1	+	17	5546	c.5522G>T	c.(5521-5523)tGc>tTc	p.C1841F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1841					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATAGACCCCTGCAATGTCCAT	0.433																																																	0								ENSG00000179869						58	57	57					7																	48314785		1877	4109	5986	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5522G>T	7.37:g.48314785G>T	ENSP00000411096:p.Cys1841Phe	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C1841F	ENST00000435803.1	37	c.5522	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679714	0.29783	.	.	ENSG00000179869	ENST00000435803	T	0.17528	2.27	6.05	5.17	0.71159	.	0.000000	0.53938	D	0.000051	T	0.38904	0.1058	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.12502	-1.0545	9	.	.	.	.	12.7292	0.57189	0.0752:0.0:0.9248:0.0	.	1841	Q86UQ4	ABCAD_HUMAN	F	1841	ENSP00000411096:C1841F	.	C	+	2	0	ABCA13	48285331	0.996000	0.38824	0.137000	0.22149	0.004000	0.04260	3.925000	0.56484	1.577000	0.49804	0.650000	0.86243	TGC	-	NULL		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48314785	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.499	T	T	48314785	G	T	48314785	3	4	112	1	0	0	0	0	1	0	0	0	31	1319	46	3	5417	3	ABCA13	7	48314785	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8702639	48314785	110823878	456	7951											
AUTS2	26053	genome.wustl.edu	37	chr7	69755362	69755362	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccatttcagagatcaggGaagatgtgccttggagagga	13	6	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:69755362G>A	ENST00000342771.4	+	5	981				AUTS2_ENST00000406775.2_Intron|AUTS2_ENST00000403018.2_Silent_p.G223G	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGAGATCAGGGAAGATGTGCC	0.368																																																	0								ENSG00000158321						150	120	129					7																	69755362		692	1591	2283	AUTS2	SO:0001627	intron_variant	0			-	HGNC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.661-145376G>A	7.37:g.69755362G>A		Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP							NULL	p.G223	ENST00000342771.4	37	c.669	CCDS5539.1	7																																																																																			-	NULL		0.368	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	protein_coding	OTTHUMT00000251971.2	G		-		69755362	1	no_errors	ENST00000403018	ensembl	human	known	74_37	silent	SNP	0.000	A	A	69755362	G	A	69755362	1	1	112	0	1	0	0	0	0	0	0	0	1225	1161	41	2		2	AUTS2	7	69755362	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	21440577	69755362	89383301	457	7952											
WBSCR17	64409	genome.wustl.edu	37	chr7	71036341	71036341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattggtcttctggatcCtggcatggatgtatacggag	13	6	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:71036341C>T	ENST00000333538.5	+	6	1668	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	345	Catalytic subdomain B.				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)				CTTCTGGATCCTGGCATGGAT	0.507																																																	0								ENSG00000185274						213	202	206					7																	71036341		2203	4300	6503	WBSCR17	SO:0001583	missense	0			-	HGNC	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.1034C>T	7.37:g.71036341C>T	ENSP00000329654:p.Pro345Leu	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	59	26.25	Q8NFV9|Q9NTA8	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P345L	ENST00000333538.5	37	c.1034	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579761	0.65992	.	.	ENSG00000185274	ENST00000333538	T	0.65916	-0.18	5.05	5.05	0.67936	.	0.113018	0.64402	D	0.000007	T	0.60715	0.2290	M	0.64997	1.995	0.80722	D	1	B	0.19706	0.038	B	0.19148	0.024	T	0.59974	-0.7353	10	0.51188	T	0.08	.	15.2514	0.73549	0.0:1.0:0.0:0.0	.	345	Q6IS24	GLTL3_HUMAN	L	345	ENSP00000329654:P345L	ENSP00000329654:P345L	P	+	2	0	WBSCR17	70674277	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	6.682000	0.74528	2.629000	0.89072	0.637000	0.83480	CCT	-	NULL		0.507	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	C	NM_022479	-		71036341	1	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71036341	C	T	71036341	3	4	112	1	0	0	0	0	1	0	0	0	17271	681	24	2	1056	2	WBSCR17	7	71036341	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1280979	71036341	88102322	458	7953											
CLDN4	1364	genome.wustl.edu	37	chr7	73245979	73245979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatccaagacttctacaatCcgctggtggcctccgggcag	10	14	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:73245979C>T	ENST00000435050.1	+	2	3128	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	CLDN4_ENST00000340958.2_Missense_Mutation_p.P150S|CLDN4_ENST00000431918.1_Missense_Mutation_p.P150S			O14493	CLD4_HUMAN	claudin 4	150					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.P150S(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CTTCTACAATCCGCTGGTGGC	0.652																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000189143						71	69	70					7																	73245979		2203	4300	6503	CLDN4	SO:0001583	missense	0			-	HGNC	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"Claudins"	2046	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 1", "Williams-Beuren syndrome chromosomal region 8 protein"	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.448C>T	7.37:g.73245979C>T	ENSP00000409544:p.Pro150Ser	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56		Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4	p.P150S	ENST00000435050.1	37	c.448	CCDS5560.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.218401	0.95104	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88354	-2.37;-2.37;-2.37	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.89840	3.065	0.58432	D	0.999999	P	0.46987	0.888	P	0.48952	0.596	D	0.94400	0.7622	10	0.66056	D	0.02	.	16.3125	0.82898	0.0:1.0:0.0:0.0	.	150	O14493	CLD4_HUMAN	S	150;150;150;137	ENSP00000409544:P150S;ENSP00000388639:P150S;ENSP00000342445:P150S	ENSP00000342445:P150S	P	+	1	0	CLDN4	72883915	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.920000	0.70017	2.448000	0.82819	0.655000	0.94253	CCG	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin4		0.652	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN4	protein_coding	OTTHUMT00000348030.1	C	NM_001305	-		73245979	1	no_errors	ENST00000340958	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73245979	C	T	73245979	3	4	112	1	0	0	0	0	1	0	0	0	3489	855	30	2	450	2	CLDN4	7	73245979	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2209638	73245979	85892684	459	7954											
SRCRB4D	136853	genome.wustl.edu	37	chr7	76029867	76029867	+	Silent	SNP	G	G	A													gccaccgtgcatgacttccaGgcggccccggcagcggctgg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:76029867G>A	ENST00000275560.3	-	4	558	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														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						ATGACTTCCAGGCGGCCCCGG	0.682																																																	0								ENSG00000146700						8	6	7					7																	76029867		2047	4018	6065	SRCRB4D	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000275560.3:c.211C>T	7.37:g.76029867G>A		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57		Silent	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.L71	ENST00000275560.3	37	c.211	CCDS5585.1	7																																																																																			-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.682	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	protein_coding	OTTHUMT00000253001.3	G		-		76029867	-1	no_errors	ENST00000275560	ensembl	human	known	74_37	silent	SNP	1.000	A	A	76029867	G	A	76029867	2	1	112	1	0	0	0	0	0	0	0	1	15144	991	35	2		2	SRCRB4D	7	76029867	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2783888	76029867	83108796	460	7955	116	2									
SRCRB4D	136853	genome.wustl.edu	37	chr7	76029868	76029868	+	Silent	SNP	G	G	A													ccaccgtgcatgacttccagGcggccccggcagcggctggg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:76029868G>A	ENST00000275560.3	-	4	557	c.210C>T	c.(208-210)cgC>cgT	p.R70R	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														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						TGACTTCCAGGCGGCCCCGGC	0.682																																																	0								ENSG00000146700						7	6	7					7																	76029868		2039	4000	6039	SRCRB4D	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000275560.3:c.210C>T	7.37:g.76029868G>A		Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17		Silent	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.R70	ENST00000275560.3	37	c.210	CCDS5585.1	7																																																																																			-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.682	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	protein_coding	OTTHUMT00000253001.3	G		-		76029868	-1	no_errors	ENST00000275560	ensembl	human	known	74_37	silent	SNP	0.984	A	A	76029868	G	A	76029868	2	1	112	1	0	0	0	0	0	0	0	1	15144	1190	42	2		2	SRCRB4D	7	76029868	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	76029868	83108795	461	7956	116	2									
CACNA2D1	781	genome.wustl.edu	37	chr7	81667533	81667533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctgaaaacagcttacatCctgagcattgctgttaaact	8	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:81667533C>T	ENST00000356253.5	-	11	1153	c.898G>A	c.(898-900)Gat>Aat	p.D300N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D300N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	300	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGCTTACATCCTGAGCATTG	0.308																																																	0								ENSG00000153956						99	98	99					7																	81667533		2203	4300	6503	CACNA2D1	SO:0001583	missense	0			-	HGNC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.898G>A	7.37:g.81667533C>T	ENSP00000348589:p.Asp300Asn	Somatic	0	100	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	46	30.30	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP							pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D300N	ENST00000356253.5	37	c.898		7	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828394	0.16749	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.83506	-1.73;-1.73	5.86	5.86	0.93980	.	0.100868	0.64402	D	0.000001	T	0.69620	0.3131	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63514	-0.6620	10	0.26408	T	0.33	-26.3175	11.1522	0.48466	0.0:0.8897:0.0:0.1103	.	300	P54289-2	.	N	300	ENSP00000349320:D300N;ENSP00000348589:D300N	ENSP00000284088:D300N	D	-	1	0	CACNA2D1	81505469	0.949000	0.32298	1.000000	0.80357	0.979000	0.70002	1.334000	0.33827	2.780000	0.95670	0.585000	0.79938	GAT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	protein_coding		C		-		81667533	-1	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	SNP	0.974	T	T	81667533	C	T	81667533	3	4	112	1	0	0	0	0	1	0	0	0	2550	855	30	2	2493	2	CACNA2D1	7	81667533	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5637665	81667533	77471130	462	7957											
PCLO	27445	genome.wustl.edu	37	chr7	82584459	82584459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttttcaaacacttcatctCgttcatttgcagctggaaaa	5	10	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:82584459C>T	ENST00000333891.9	-	5	6147	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R1937Q	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						CACTTCATCTCGTTCATTTGC	0.363																																																	0								ENSG00000186472						61	59	60					7																	82584459		1857	4087	5944	PCLO	SO:0001583	missense	0			-	HGNC	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.5810G>A	7.37:g.82584459C>T	ENSP00000334319:p.Arg1937Gln	Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R1937Q	ENST00000333891.9	37	c.5810	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246977	0.22796	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.38	5.57	3.53	0.40419	.	.	.	.	.	T	0.11196	0.0273	L	0.36672	1.1	0.80722	D	1	B;B	0.29253	0.239;0.239	B;B	0.18263	0.021;0.021	T	0.12837	-1.0532	9	0.87932	D	0	.	4.2182	0.10545	0.0:0.534:0.0:0.466	.	1937;1937	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1868;1937;1937	ENSP00000334319:R1937Q;ENSP00000388393:R1937Q	ENSP00000334319:R1937Q	R	-	2	0	PCLO	82422395	0.962000	0.33011	0.998000	0.56505	0.948000	0.59901	1.169000	0.31871	1.360000	0.45960	0.655000	0.94253	CGA	-	NULL		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82584459	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.997	T	T	82584459	C	T	82584459	3	4	112	1	0	0	0	0	1	0	0	0	11585	884	31	1	9719	1	PCLO	7	82584459	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	916926	82584459	76554204	463	7958											
PCLO	27445	genome.wustl.edu	37	chr7	82585580	82585580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagcatcttcatcagcactCatttctatgatttgttttcg	6	9	5	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:82585580C>T	ENST00000333891.9	-	5	5026	c.4689G>A	c.(4687-4689)atG>atA	p.M1563I	PCLO_ENST00000423517.2_Missense_Mutation_p.M1563I	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						CATCAGCACTCATTTCTATGA	0.423																																																	0								ENSG00000186472						155	144	147					7																	82585580		1920	4130	6050	PCLO	SO:0001583	missense	0			-	HGNC	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.4689G>A	7.37:g.82585580C>T	ENSP00000334319:p.Met1563Ile	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.M1563I	ENST00000333891.9	37	c.4689	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815190	0.50527	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23147	1.92;1.93	5.26	5.26	0.73747	.	.	.	.	.	T	0.38612	0.1047	M	0.73962	2.25	0.80722	D	1	P;P	0.45902	0.868;0.868	B;B	0.44163	0.443;0.443	T	0.43814	-0.9368	9	0.87932	D	0	.	18.8645	0.92285	0.0:1.0:0.0:0.0	.	1563;1563	Q9Y6V0-5;Q9Y6V0-6	.;.	I	1494;1563;1563	ENSP00000334319:M1563I;ENSP00000388393:M1563I	ENSP00000334319:M1563I	M	-	3	0	PCLO	82423516	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.562000	0.82300	2.458000	0.83093	0.655000	0.94253	ATG	-	NULL		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82585580	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82585580	C	T	82585580	3	4	112	1	0	0	0	0	1	0	0	0	11585	826	29	2	10840	2	PCLO	7	82585580	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1121	82585580	76553083	464	7959											
GRM3	2913	genome.wustl.edu	37	chr7	86394606	86394606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggcctgtttcctattaacGaaaaaggcactggaactgaa	11	8	0	1	rs267601603		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:86394606G>A	ENST00000361669.2	+	2	1244	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.E47K|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E49K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	49					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)	p.E49K(1)		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)					TCCTATTAACGAAAAAGGCAC	0.408																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000198822						114	115	114					7																	86394606		2203	4300	6503	GRM3	SO:0001583	missense	0			-	HGNC		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.145G>A	7.37:g.86394606G>A	ENSP00000355316:p.Glu49Lys	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.E49K	ENST00000361669.2	37	c.145	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900098	0.72754	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	L	0.58583	1.82	0.80722	D	1	D;P	0.53312	0.959;0.828	B;B	0.36378	0.223;0.219	T	0.75706	-0.3224	10	0.26408	T	0.33	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	49;49	G5E9K2;Q14832	.;GRM3_HUMAN	K	49;49;47;49;49	ENSP00000355316:E49K;ENSP00000398767:E49K;ENSP00000378209:E47K;ENSP00000390037:E49K;ENSP00000407490:E49K	ENSP00000355316:E49K	E	+	1	0	GRM3	86232542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.692000	0.84203	2.732000	0.93576	0.655000	0.94253	GAA	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G		-		86394606	1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86394606	G	A	86394606	3	1	112	1	0	0	0	0	1	0	0	0	6800	1059	37	1	147	1	GRM3	7	86394606	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3809026	86394606	72744057	465	7960											
GRM3	2913	genome.wustl.edu	37	chr7	86468384	86468384	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctgtgcccccaatgaaatGaagaatatgcaaccagggga	10	11	0	3	rs371949904		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:86468384G>A	ENST00000361669.2	+	4	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_ENST00000536043.1_Missense_Mutation_p.M390I|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.M110I|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	518					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)	p.M518I(1)		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)					CCAATGAAATGAAGAATATGC	0.522																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	skin(1)						ENSG00000198822	G	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	100	92	95		1554	6.2	1	7		95	0,8600		0,0,4300	no	missense	GRM3	NM_000840.2	10	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	518/880	86468384	1,13005	2203	4300	6503	GRM3	SO:0001583	missense	0			-	HGNC		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.1554G>A	7.37:g.86468384G>A	ENSP00000355316:p.Met518Ile	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.M518I	ENST00000361669.2	37	c.1554	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814284	0.32053	2.27E-4	0.0	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;T;D	0.88664	-2.41;-0.4;-2.41	6.17	6.17	0.99709	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	N	0.11756	0.17	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.73987	-0.3809	10	0.13853	T	0.58	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	110;390;518	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	I	518;110;390	ENSP00000355316:M518I;ENSP00000444064:M110I;ENSP00000441407:M390I	ENSP00000355316:M518I	M	+	3	0	GRM3	86306320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.972000	0.88022	2.941000	0.99782	0.655000	0.94253	ATG	-	pfam_GPCR_3_9-Cys_dom		0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G		-		86468384	1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86468384	G	A	86468384	3	1	112	1	0	0	0	0	1	0	0	0	6800	1290	45	2	1564	2	GRM3	7	86468384	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	73778	86468384	72670279	466	7961											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94898568	94898568	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattaccaaattacttccacCtaagggtttgagaacgtctt	6	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:94898568C>T	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000289495.5_Intron|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P936L|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P958L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P936L			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						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)				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)			TTACTTCCACCTAAGGGTTTG	0.438										HNSCC(28;0.073)																																							0								ENSG00000158528						79	70	73					7																	94898568		1568	3581	5149	PPP1R9A	SO:0001627	intron_variant	0			-	HGNC	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.2757+549C>T	7.37:g.94898568C>T		Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,superfamily_Smac_DIABLO-like,smart_PDZ,pfscan_PDZ	p.P936L	ENST00000433881.1	37	c.2807	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623920	0.66901	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000456331	T;T;T	0.15603	2.42;2.41;2.41	4.42	4.42	0.53409	.	.	.	.	.	T	0.21718	0.0523	L	0.42245	1.32	0.30855	N	0.734119	P;P;P	0.48162	0.835;0.906;0.745	P;B;B	0.44990	0.466;0.36;0.276	T	0.05194	-1.0900	9	0.66056	D	0.02	.	16.4835	0.84171	0.0:1.0:0.0:0.0	.	958;936;936	E9PDX1;D6W5R0;E9PCK6	.;.;.	L	958;936;936	ENSP00000405514:P958L;ENSP00000411342:P936L;ENSP00000402893:P936L	ENSP00000411342:P936L	P	+	2	0	PPP1R9A	94736504	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.307000	0.51888	2.741000	0.93983	0.585000	0.79938	CCT	-	NULL		0.438	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	protein_coding	OTTHUMT00000340662.1	C	NM_001166160	-		94898568	1	no_errors	ENST00000456331	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94898568	C	T	94898568	1	4	112	0	1	0	0	0	0	0	0	0	12383	681	24	2		2	PPP1R9A	7	94898568	Intron	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	8430184	94898568	64240095	467	7962											
OCM2	4951	genome.wustl.edu	37	chr7	97617774	97617774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtcgttgtctatgaAccggaaaacatccttcacct	8	12	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:97617774A>G	ENST00000257627.4	-	2	239	c.148T>C	c.(148-150)Ttc>Ctc	p.F50L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	50	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TTGTCTATGAACCGGAAAACA	0.517																																																	0								ENSG00000135175						173	147	156					7																	97617774		2203	4300	6503	OCM2	SO:0001583	missense	0			-	HGNC	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.148T>C	7.37:g.97617774A>G	ENSP00000257627:p.Phe50Leu	Somatic	0	126	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	73	24.74	P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.F50L	ENST00000257627.4	37	c.148	CCDS5653.1	7	.	.	.	.	.	.	.	.	.	.	a	14.17	2.456750	0.43634	.	.	ENSG00000135175	ENST00000257627	T	0.68025	-0.3	3.98	3.98	0.46160	EF-hand-like domain (1);	0.118597	0.56097	D	0.000030	T	0.34019	0.0883	N	0.01482	-0.84	0.26956	N	0.965921	B	0.14438	0.01	B	0.09377	0.004	T	0.16012	-1.0417	10	0.62326	D	0.03	-14.0609	4.7439	0.13028	0.6183:0.1943:0.0:0.1874	.	50	P0CE71	OCM2_HUMAN	L	50	ENSP00000257627:F50L	ENSP00000257627:F50L	F	-	1	0	OCM2	97455710	0.943000	0.32029	1.000000	0.80357	0.992000	0.81027	0.294000	0.19047	1.685000	0.51034	0.386000	0.25728	TTC	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.517	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM2	protein_coding	OTTHUMT00000334188.1	A	NM_006188	-		97617774	-1	no_errors	ENST00000257627	ensembl	human	known	74_37	missense	SNP	1.000	G	G	97617774	A	G	97617774	3	3	112	1	0	0	0	0	1	0	0	0	10824	43	2	5	193	5	OCM2	7	97617774	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2719206	97617774	61520889	468	7963											
LMTK2	22853	genome.wustl.edu	37	chr7	97833498	97833498	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggacatcgagcagggcGgtgagaggcgctgcgtgctg	18	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:97833498G>A	ENST00000297293.5	+	13	4776	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1495				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGAGCAGGGCGGTGAGAGGCG	0.627																																																	0								ENSG00000164715						44	48	47					7																	97833498		2203	4300	6503	LMTK2	SO:0001630	splice_region_variant	0			-	HGNC	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4483+1G>A	7.37:g.97833498G>A		Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1495R	ENST00000297293.5	37	c.4483	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675483	0.67928	.	.	ENSG00000164715	ENST00000297293	D	0.86366	-2.11	5.32	5.32	0.75619	.	0.055155	0.64402	D	0.000001	D	0.94019	0.8084	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93173	0.6568	10	0.38643	T	0.18	.	18.4131	0.90559	0.0:0.0:1.0:0.0	.	1495	Q8IWU2	LMTK2_HUMAN	R	1495	ENSP00000297293:G1495R	ENSP00000297293:G1495R	G	+	1	0	LMTK2	97671434	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.403000	0.97302	2.662000	0.90505	0.558000	0.71614	GGA	-	NULL		0.627	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	protein_coding	OTTHUMT00000334560.1	G	NM_014916	-	Missense_Mutation	97833498	1	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	SNP	1.000	A	A	97833498	G	A	97833498	5	1	112	1	0	0	0	0	0	0	1	0	8861	1130	39	1	4533	1	LMTK2	7	97833498	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	215724	97833498	61305165	469	7964											
CYP3A4	1576	genome.wustl.edu	37	chr7	99367474	99367474	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatactgggcaatgataggGaccatctaagcacaaaacac	8	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:99367474G>A	ENST00000336411.2	-	6	621	c.438C>T	c.(436-438)gtC>gtT	p.V146V	CYP3A4_ENST00000354593.2_Intron|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	146					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CAATGATAGGGACCATCTAAG	0.488																																																	0								ENSG00000160868						140	130	134					7																	99367474		2203	4297	6500	CYP3A4	SO:0001819	synonymous_variant	0			-	HGNC	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.438C>T	7.37:g.99367474G>A		Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	P05184|Q16757|Q9UK50	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V146	ENST00000336411.2	37	c.438	CCDS5674.1	7																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.488	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	protein_coding	OTTHUMT00000345059.1	G		-		99367474	-1	no_errors	ENST00000336411	ensembl	human	known	74_37	silent	SNP	0.993	A	A	99367474	G	A	99367474	2	1	112	1	0	0	0	0	0	0	0	1	4180	1161	41	2		2	CYP3A4	7	99367474	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1533976	99367474	59771189	470	7965											
MOSPD3	64598	genome.wustl.edu	37	chr7	100212794	100212794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcctcaccatggtgttCctccggacctgagctccgtg	11	16	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:100212794C>T	ENST00000393950.2	+	5	978	c.696C>T	c.(694-696)ttC>ttT	p.F232F	MOSPD3_ENST00000424091.2_Silent_p.F222F|MOSPD3_ENST00000379527.2_Silent_p.F232F|MOSPD3_ENST00000223054.4_Silent_p.F232F	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	232					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCATGGTGTTCCTCCGGACCT	0.627																																																	0								ENSG00000106330						110	102	104					7																	100212794		2203	4300	6503	MOSPD3	SO:0001819	synonymous_variant	0			-	HGNC	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.696C>T	7.37:g.100212794C>T		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP							pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom	p.F232	ENST00000393950.2	37	c.696	CCDS5701.1	7																																																																																			-	NULL		0.627	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOSPD3	protein_coding	OTTHUMT00000356395.1	C	NM_023948	-		100212794	1	no_errors	ENST00000223054	ensembl	human	known	74_37	silent	SNP	0.999	T	T	100212794	C	T	100212794	2	4	112	1	0	0	0	0	0	0	0	1	9719	854	30	2		2	MOSPD3	7	100212794	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	845320	100212794	58925869	471	7966											
FBXL13	222235	genome.wustl.edu	37	chr7	102523910	102523910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatcagtaacccttttAtttcctgtttttaaaaaaca	4	8	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:102523910A>G	ENST00000313221.4	-	14	1656	c.1230T>C	c.(1228-1230)aaT>aaC	p.N410N	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Silent_p.N410N|FBXL13_ENST00000436908.1_Silent_p.N410N|FBXL13_ENST00000379308.3_Silent_p.N410N|FBXL13_ENST00000379305.3_Silent_p.N410N|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Silent_p.N410N	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	410										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TAACCCTTTTATTTCCTGTTT	0.318																																																	0								ENSG00000161040						67	68	68					7																	102523910		2203	4300	6503	FBXL13	SO:0001819	synonymous_variant	0			-	HGNC	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1230T>C	7.37:g.102523910A>G		Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP							smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.N410	ENST00000313221.4	37	c.1230	CCDS5726.1	7																																																																																			-	NULL		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	protein_coding	OTTHUMT00000348001.1	A	NM_145032	-		102523910	-1	no_errors	ENST00000313221	ensembl	human	known	74_37	silent	SNP	1.000	G	G	102523910	A	G	102523910	2	3	112	1	0	0	0	0	0	0	0	1	5711	446	16	5		5	FBXL13	7	102523910	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2311116	102523910	56614753	472	7967											
RELN	5649	genome.wustl.edu	37	chr7	103126803	103126803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcctcggtgactcttgcgGactcaaaattatctttaata	7	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:103126803G>A	ENST00000428762.1	-	61	9983	c.9824C>T	c.(9823-9825)tCc>tTc	p.S3275F	RELN_ENST00000424685.2_Missense_Mutation_p.S3275F|RELN_ENST00000343529.5_Missense_Mutation_p.S3275F|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'Flank|RN7SKP86_ENST00000410454.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3275					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)		GACTCTTGCGGACTCAAAATT	0.498																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						76	76	76					7																	103126803		2203	4300	6503	RELN	SO:0001583	missense	0			-	HGNC		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.9824C>T	7.37:g.103126803G>A	ENSP00000392423:p.Ser3275Phe	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	32	40.74	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP							pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.S3275F	ENST00000428762.1	37	c.9824	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929397	0.92389	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.61703	1.905	0.80722	D	1	B;D	0.64830	0.046;0.994	B;D	0.76071	0.098;0.987	T	0.48864	-0.8997	10	0.87932	D	0	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	3275;3275	P78509-2;P78509	.;RELN_HUMAN	F	3275;3275;3275;792;3275	ENSP00000392423:S3275F;ENSP00000345694:S3275F;ENSP00000388446:S3275F	ENSP00000345694:S3275F	S	-	2	0	RELN	102914039	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	TCC	-	NULL		0.498	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	G	NM_005045	-		103126803	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103126803	G	A	103126803	3	1	112	1	0	0	0	0	1	0	0	0	13228	1174	41	2	578	2	RELN	7	103126803	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	602893	103126803	56011860	473	7968											
GRM8	2918	genome.wustl.edu	37	chr7	126746678	126746678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatggcttgggcttggtagGagtcaggcggaaccactcga	15	10	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:126746678G>A	ENST00000339582.2	-	3	1407	c.599C>T	c.(598-600)tCc>tTc	p.S200F	GRM8_ENST00000358373.3_Missense_Mutation_p.S200F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S200F|GRM8_ENST00000444921.2_Missense_Mutation_p.S200F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	200					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)			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)				GGCTTGGTAGGAGTCAGGCGG	0.502										HNSCC(24;0.065)																																							0								ENSG00000179603						153	144	147					7																	126746678		2203	4300	6503	GRM8	SO:0001583	missense	0			-	HGNC		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.599C>T	7.37:g.126746678G>A	ENSP00000344173:p.Ser200Phe	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	27	43.75	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.S200F	ENST00000339582.2	37	c.599	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407505	0.42715	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	L	0.38953	1.18	0.80722	D	1	D;P	0.69078	0.997;0.91	D;P	0.80764	0.994;0.781	D	0.85636	0.1273	10	0.33940	T	0.23	.	17.5651	0.87917	0.0:0.0:1.0:0.0	.	200;200	O00222-2;O00222	.;GRM8_HUMAN	F	200;200;200;200;200;10	ENSP00000344173:S200F;ENSP00000409790:S200F;ENSP00000351142:S200F;ENSP00000385731:S200F;ENSP00000415522:S200F;ENSP00000418255:S10F	ENSP00000344173:S200F	S	-	2	0	GRM8	126533914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.386000	0.81285	0.563000	0.77884	TCC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	protein_coding	OTTHUMT00000059209.4	G		-		126746678	-1	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126746678	G	A	126746678	3	1	112	1	0	0	0	0	1	0	0	0	6805	1174	41	2	2213	2	GRM8	7	126746678	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	23619875	126746678	32391985	474	7969											
PAX4	5078	genome.wustl.edu	37	chr7	127253567	127253567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggccactgaatcaggAtactgcccacgctggaactc	10	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:127253567A>G	ENST00000341640.2	-	5	763	c.558T>C	c.(556-558)taT>taC	p.Y186Y	PAX4_ENST00000463946.1_Silent_p.Y184Y|PAX4_ENST00000338516.3_Silent_p.Y194Y|PAX4_ENST00000378740.2_Silent_p.Y186Y	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	194					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGAATCAGGATACTGCCCAC	0.582																																					Ovarian(113;737 1605 7858 27720 34092)												0								ENSG00000106331						64	65	65					7																	127253567		2203	4300	6503	PAX4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.558T>C	7.37:g.127253567A>G		Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	O95161|Q6B0H0	Silent	SNP							pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.Y186	ENST00000341640.2	37	c.558	CCDS5797.1	7																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	protein_coding	OTTHUMT00000349165.1	A		-		127253567	-1	no_errors	ENST00000341640	ensembl	human	known	74_37	silent	SNP	0.993	G	G	127253567	A	G	127253567	2	3	112	1	0	0	0	0	0	0	0	1	11483	340	12	5		5	PAX4	7	127253567	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	506889	127253567	31885096	475	7970											
IMPDH1	3614	genome.wustl.edu	37	chr7	128034581	128034581	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgctatgaggtagggcacGaacttctgaatggatccttt	11	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:128034581G>A	ENST00000480861.1	-	12	1430	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	IMPDH1_ENST00000343214.4_Silent_p.F431F|IMPDH1_ENST00000378717.4_Silent_p.F472F|IMPDH1_ENST00000419067.2_Silent_p.F508F|IMPDH1_ENST00000338791.6_Silent_p.F541F|IMPDH1_ENST00000348127.6_Silent_p.F505F|IMPDH1_ENST00000470772.1_Silent_p.F455F|IMPDH1_ENST00000354269.5_Silent_p.F531F|IMPDH1_ENST00000496200.1_Silent_p.F431F	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GGTAGGGCACGAACTTCTGAA	0.607																																																	0								ENSG00000106348						91	87	88					7																	128034581		2203	4300	6503	IMPDH1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1353C>T	7.37:g.128034581G>A		Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12		Silent	SNP							pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.F541	ENST00000480861.1	37	c.1623	CCDS55161.1	7																																																																																			-	pfam_IMP_DH_GMPRt,tigrfam_IMP_DH		0.607	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	protein_coding	OTTHUMT00000349462.1	G	NM_000883	-		128034581	-1	no_errors	ENST00000338791	ensembl	human	known	74_37	silent	SNP	0.997	A	A	128034581	G	A	128034581	2	1	112	1	0	0	0	0	0	0	0	1	7728	1049	37	1		1	IMPDH1	7	128034581	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	781014	128034581	31104082	476	7971											
C7orf45	136263	genome.wustl.edu	37	chr7	129856077	129856077	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtggaaggagagtgaaagtGaacaccacccatcaccagac	11	11	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:129856077G>A	ENST00000297819.3	+	3	553	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	168						integral component of membrane (GO:0016021)											GAGTGAAAGTGAACACCACCC	0.478																																																	0								ENSG00000165120						102	102	102					7																	129856077		2203	4300	6503	SSMEM1	SO:0001583	missense	0			-	HGNC	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.502G>A	7.37:g.129856077G>A	ENSP00000297819:p.Glu168Lys	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69		Missense_Mutation	SNP							NULL	p.E168K	ENST00000297819.3	37	c.502	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960629	0.74016	.	.	ENSG00000165120	ENST00000297819	T	0.54279	0.58	5.71	4.83	0.62350	.	0.271188	0.31834	N	0.006985	T	0.46756	0.1409	M	0.64997	1.995	0.24804	N	0.992686	P	0.35628	0.513	B	0.32533	0.147	T	0.51772	-0.8663	10	0.66056	D	0.02	-15.4819	8.414	0.32659	0.0823:0.1544:0.7633:0.0	.	168	Q8WWF3	CG045_HUMAN	K	168	ENSP00000297819:E168K	ENSP00000297819:E168K	E	+	1	0	C7orf45	129643313	0.998000	0.40836	0.993000	0.49108	0.981000	0.71138	4.973000	0.63763	1.428000	0.47296	0.491000	0.48974	GAA	-	NULL		0.478	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSMEM1	protein_coding	OTTHUMT00000349768.1	G	NM_145268	-		129856077	1	no_errors	ENST00000297819	ensembl	human	known	74_37	missense	SNP	0.993	A	A	129856077	G	A	129856077	3	1	112	1	0	0	0	0	1	0	0	0	2397	1291	45	2	512	2	C7orf45	7	129856077	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1821496	129856077	29282586	477	7972											
PLXNA4	91584	genome.wustl.edu	37	chr7	131825507	131825507	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcgtctgtgatgctgttCttatggatgtcaaacacaaa	10	8	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:131825507C>T	ENST00000359827.3	-	30	6251	c.5289G>A	c.(5287-5289)aaG>aaA	p.K1763K	PLXNA4_ENST00000321063.4_Silent_p.K1763K			Q9HCM2	PLXA4_HUMAN	plexin A4	1763					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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATGCTGTTCTTATGGATGT	0.557																																																	0								ENSG00000221866						119	128	125					7																	131825507		2203	4300	6503	PLXNA4	SO:0001819	synonymous_variant	0			-	HGNC	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.5289G>A	7.37:g.131825507C>T		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K1763	ENST00000359827.3	37	c.5289	CCDS43646.1	7																																																																																			-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	protein_coding	OTTHUMT00000338422.2	C	NM_181775	-		131825507	-1	no_errors	ENST00000321063	ensembl	human	known	74_37	silent	SNP	1.000	T	T	131825507	C	T	131825507	2	4	112	1	0	0	0	0	0	0	0	1	12124	912	32	2		2	PLXNA4	7	131825507	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1969430	131825507	27313156	478	7973											
AKR1D1	6718	genome.wustl.edu	37	chr7	137791357	137791357	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaatgcaaccacataggttGagtgccatccgtatttcacc	7	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:137791357G>T	ENST00000242375.3	+	6	625	c.583G>T	c.(583-585)Gag>Tag	p.E195*	AKR1D1_ENST00000432161.1_Nonsense_Mutation_p.E195*|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Nonsense_Mutation_p.E154*	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	195					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CACATAGGTTGAGTGCCATCC	0.393																																																	0								ENSG00000122787						109	99	103					7																	137791357		2203	4300	6503	AKR1D1	SO:0001587	stop_gained	0			-	HGNC	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.583G>T	7.37:g.137791357G>T	ENSP00000242375:p.Glu195*	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	A1L4P6|A8K060|B4DPN3|B4DPN8	Nonsense_Mutation	SNP							pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E195*	ENST00000242375.3	37	c.583	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.209294	0.97376	.	.	ENSG00000122787	ENST00000297463;ENST00000432161;ENST00000411726;ENST00000242375	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1122	0.81271	0.0:0.0:1.0:0.0	.	.	.	.	X	73;195;154;195	.	ENSP00000242375:E195X	E	+	1	0	AKR1D1	137441897	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	9.075000	0.94004	2.736000	0.93811	0.591000	0.81541	GAG	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.393	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	protein_coding	OTTHUMT00000341637.1	G	NM_005989	-		137791357	1	no_errors	ENST00000242375	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	137791357	G	T	137791357	4	4	112	1	0	0	0	0	0	1	0	0	473	1291	45	3	605	3	AKR1D1	7	137791357	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5965850	137791357	21347306	479	7974											
AGK	55750	genome.wustl.edu	37	chr7	141315323	141315323	+	Frame_Shift_Del	DEL	G	G	-													cccactgggagagaccagtaGtttgagtcataccctctttg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141315323delG	ENST00000355413.4	+	8	736	c.476delG	c.(475-477)agtfs	p.S159fs	AGK_ENST00000473247.1_Frame_Shift_Del_p.S131fs|AGK_ENST00000535825.1_Frame_Shift_Del_p.S156fs	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	159	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGACCAGTAGTTTGAGTCAT	0.438																																																	0								ENSG00000006530						184	184	184					7																	141315323		2203	4300	6503	AGK	SO:0001589	frameshift_variant	0				HGNC	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.476delG	7.37:g.141315323delG	ENSP00000347581:p.Ser159fs	Somatic	0	134	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	Q75KN1|Q96GC3|Q9NP48	Frame_Shift_Del	DEL							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.S159fs	ENST00000355413.4	37	c.476	CCDS5865.1	7																																																																																			-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.438	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	protein_coding	OTTHUMT00000348969.1	G	NM_018238			141315323	1	no_errors	ENST00000355413	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	141315323	G	-	141315323	7	5	112	1	0	1	0	1	0	0	0	0	383	1029	36	0	502	0	AGK	7	141315323	Frame_Shift_Del	DEL	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3523966	141315323	17823340	480	7975											
MGAM	8972	genome.wustl.edu	37	chr7	141705366	141705366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaaatttactactttGgagattgtgctcagtgttct	8	6	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141705366G>A	ENST00000549489.2	+	2	131	c.36G>A	c.(34-36)ttG>ttA	p.L12L	MGAM_ENST00000475668.2_Silent_p.L12L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	12					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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACTACTTTGGAGATTGTGC	0.303																																																	0								ENSG00000257335						105	98	100					7																	141705366		1833	4090	5923	MGAM	SO:0001819	synonymous_variant	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.36G>A	7.37:g.141705366G>A		Somatic	0	103	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L12	ENST00000549489.2	37	c.36	CCDS47727.1	7																																																																																			-	NULL		0.303	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	G		-		141705366	1	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	SNP	0.888	A	A	141705366	G	A	141705366	2	1	112	1	0	0	0	0	0	0	0	1	9543	1339	47	2		2	MGAM	7	141705366	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	390043	141705366	17433297	481	7976											
TRYX3	136541	genome.wustl.edu	37	chr7	141952291	141952291	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggatgaagagtattttaCcttgcagggctgcctccttc	10	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141952291C>T	ENST00000552471.1	-	4	896		c.e4+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GAGTATTTTACCTTGCAGGGC	0.418																																																	0								ENSG00000258223						145	134	138					7																	141952291		2203	4300	6503	PRSS58	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.576+1G>A	7.37:g.141952291C>T		Somatic	0	92	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	62	24.39	B3KVJ6|D3DXD2	Splice_Site	SNP							-	e4+1	ENST00000552471.1	37	c.576+1	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674837	0.47781	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7526	0.57316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS58	141598769	1.000000	0.71417	0.998000	0.56505	0.511000	0.34104	4.967000	0.63722	2.723000	0.93209	0.655000	0.94253	.	-	-		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	protein_coding	OTTHUMT00000351328.2	C	NM_001001317	-	Intron	141952291	-1	no_errors	ENST00000547058	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	141952291	C	T	141952291	5	4	112	1	0	0	0	0	0	0	1	0	16611	521	18	2	156	2	TRYX3	7	141952291	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	246925	141952291	17186372	482	7977											
TRPV5	56302	genome.wustl.edu	37	chr7	142612506	142612506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaatggccccccaagaatCgtctttccaaaatagcgaga	9	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:142612506C>T	ENST00000265310.1	-	10	1605	c.1257G>A	c.(1255-1257)acG>acA	p.T419T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	419					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCCAAGAATCGTCTTTCCAA	0.507																																																	0								ENSG00000127412						149	144	146					7																	142612506		2203	4300	6503	TRPV5	SO:0001819	synonymous_variant	0			-	HGNC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1257G>A	7.37:g.142612506C>T		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.T419	ENST00000265310.1	37	c.1257	CCDS5875.1	7																																																																																			-	prints_TRPV5/TRPV6,tigrfam_TRP_channel		0.507	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	protein_coding	OTTHUMT00000347660.1	C	NM_019841	-		142612506	-1	no_errors	ENST00000265310	ensembl	human	known	74_37	silent	SNP	0.000	T	T	142612506	C	T	142612506	2	4	112	1	0	0	0	0	0	0	0	1	16606	871	31	1		1	TRPV5	7	142612506	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	660215	142612506	16526157	483	7978											
CNTNAP2	26047	genome.wustl.edu	37	chr7	146825907	146825907	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgatcttgccagaaggaaGaaattagagccctcaaatgt	9	8	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:146825907G>A	ENST00000361727.3	+	7	1578	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	354	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGAAGGAAGAAATTAGAGC	0.383										HNSCC(39;0.1)																																							0								ENSG00000174469						105	108	107					7																	146825907		2203	4300	6503	CNTNAP2	SO:0001819	synonymous_variant	0			-	HGNC	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1062G>A	7.37:g.146825907G>A		Somatic	1	111	0.89		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	59	26.25	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K354	ENST00000361727.3	37	c.1062	CCDS5889.1	7																																																																																			-	pfscan_Laminin_G		0.383	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	protein_coding	OTTHUMT00000327668.1	G		-		146825907	1	no_errors	ENST00000361727	ensembl	human	known	74_37	silent	SNP	1.000	A	A	146825907	G	A	146825907	2	1	112	1	0	0	0	0	0	0	0	1	3649	933	33	2		2	CNTNAP2	7	146825907	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4213401	146825907	12312756	484	7979											
ZNF786	136051	genome.wustl.edu	37	chr7	148767611	148767611	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggattttgtgtgtactctGatgtgctccgcaagcttaga	11	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:148767611G>A	ENST00000491431.1	-	4	2317	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	ZNF786_ENST00000316286.9_Silent_p.I665I|ZNF786_ENST00000451334.3_Silent_p.I714I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	751					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(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTGTACTCTGATGTGCTCCG	0.512																																																	0								ENSG00000197362						204	198	200					7																	148767611		1999	4195	6194	ZNF786	SO:0001819	synonymous_variant	0			-	HGNC	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2253C>T	7.37:g.148767611G>A		Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A1A568|B4DMI1	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I751	ENST00000491431.1	37	c.2253	CCDS47738.1	7																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	protein_coding	OTTHUMT00000352751.1	G	NM_152411	-		148767611	-1	no_errors	ENST00000491431	ensembl	human	known	74_37	silent	SNP	0.001	A	A	148767611	G	A	148767611	2	1	112	1	0	0	0	0	0	0	0	1	18165	1280	45	2		2	ZNF786	7	148767611	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1941704	148767611	10371052	485	7980											
GIMAP6	474344	genome.wustl.edu	37	chr7	150327158	150327158	+	Missense_Mutation	SNP	C	C	T													cattttacctcctgacagctCcagcacaggatcctgggaca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150327158C>T	ENST00000328902.5	-	2	289	c.73G>A	c.(73-75)Gag>Aag	p.E25K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E25K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	25						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGACAGCTCCAGCACAGGA	0.468																																																	0								ENSG00000133561						187	188	188					7																	150327158		2203	4300	6503	GIMAP6	SO:0001583	missense	0			-	HGNC	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.73G>A	7.37:g.150327158C>T	ENSP00000330374:p.Glu25Lys	Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.E25K	ENST00000328902.5	37	c.73	CCDS34778.1	7	.	.	.	.	.	.	.	.	.	.	c	7.012	0.556899	0.13436	.	.	ENSG00000133561	ENST00000328902;ENST00000477013;ENST00000493969	T	0.06528	3.29	3.04	-1.33	0.09172	.	.	.	.	.	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.46205	-0.9208	9	0.23302	T	0.38	.	3.8285	0.08864	0.0:0.3257:0.396:0.2783	.	25	Q6P9H5	GIMA6_HUMAN	K	25	ENSP00000330374:E25K	ENSP00000330374:E25K	E	-	1	0	GIMAP6	149958091	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.011000	0.13264	-0.291000	0.09012	-0.313000	0.08912	GAG	-	superfamily_P-loop_NTPase		0.468	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	protein_coding	OTTHUMT00000353457.1	C	NM_024711	-		150327158	-1	no_errors	ENST00000328902	ensembl	human	known	74_37	missense	SNP	0.000	T	T	150327158	C	T	150327158	3	4	112	1	0	0	0	0	1	0	0	0	6385	864	30	2	813	2	GIMAP6	7	150327158	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1559547	150327158	8811505	486	7981	117	2									
GIMAP6	474344	genome.wustl.edu	37	chr7	150327159	150327159	+	Silent	SNP	C	C	T													attttacctcctgacagctcCagcacaggatcctgggacag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150327159C>T	ENST00000328902.5	-	2	288	c.72G>A	c.(70-72)ctG>ctA	p.L24L	GIMAP6_ENST00000493969.1_Silent_p.L24L	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	24						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGACAGCTCCAGCACAGGAT	0.463																																																	0								ENSG00000133561						186	188	187					7																	150327159		2203	4300	6503	GIMAP6	SO:0001819	synonymous_variant	0			-	HGNC	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.72G>A	7.37:g.150327159C>T		Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.L24	ENST00000328902.5	37	c.72	CCDS34778.1	7																																																																																			-	superfamily_P-loop_NTPase		0.463	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	protein_coding	OTTHUMT00000353457.1	C	NM_024711	-		150327159	-1	no_errors	ENST00000328902	ensembl	human	known	74_37	silent	SNP	0.000	T	T	150327159	C	T	150327159	2	4	112	1	0	0	0	0	0	0	0	1	6385	581	21	2		2	GIMAP6	7	150327159	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	150327159	8811504	487	7982	117	2									
ABP1	26	genome.wustl.edu	37	chr7	150554581	150554581	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcctgaacgtgcacttCggcggagagcgcattgccta	13	12	0	2	rs553084982		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150554581C>T	ENST00000493429.1	+	4	1607	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	AOC1_ENST00000360937.4_Silent_p.F341F|AOC1_ENST00000416793.2_Silent_p.F341F|AOC1_ENST00000467291.1_Silent_p.F341F			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	341					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACGTGCACTTCGGCGGAGAGC	0.632																																																	0								ENSG00000002726						51	53	53					7																	150554581		2203	4299	6502	AOC1	SO:0001819	synonymous_variant	0			-	HGNC	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1023C>T	7.37:g.150554581C>T		Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP							pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.F341	ENST00000493429.1	37	c.1023	CCDS43679.1	7																																																																																			-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.632	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	protein_coding	OTTHUMT00000350628.1	C	NM_001091	-		150554581	1	no_errors	ENST00000416793	ensembl	human	known	74_37	silent	SNP	0.001	T	T	150554581	C	T	150554581	2	4	112	1	0	0	0	0	0	0	0	1	98	883	31	1		1	ABP1	7	150554581	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	227422	150554581	8584082	488	7983											
ASB10	136371	genome.wustl.edu	37	chr7	150878388	150878388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcagtggggtccagcCttcggcattgcgggcatcag	15	12	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150878388C>T	ENST00000420175.2	-	3	766	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	ASB10_ENST00000275838.1_Missense_Mutation_p.G248S|ASB10_ENST00000434669.1_Missense_Mutation_p.G293S|ASB10_ENST00000422024.1_Missense_Mutation_p.G293S|ASB10_ENST00000377867.3_Missense_Mutation_p.G233S			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	248					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGTCCAGCCTTCGGCATTG	0.657																																																	0								ENSG00000146926						36	36	36					7																	150878388		2203	4300	6503	ASB10	SO:0001583	missense	0			-	HGNC	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.742G>A	7.37:g.150878388C>T	ENSP00000391137:p.Gly248Ser	Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	48	41.46	A0AVH0|Q6ZUL6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.G293S	ENST00000420175.2	37	c.877	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594308	0.66219	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.24	4.35	0.52113	Ankyrin repeat-containing domain (3);	0.052997	0.85682	D	0.000000	T	0.78175	0.4242	M	0.87617	2.895	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.994	T	0.82289	-0.0531	10	0.72032	D	0.01	-12.4543	13.5943	0.61979	0.0:0.9242:0.0:0.0758	.	233;248;293	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	S	248;233;293;293;248	ENSP00000275838:G248S;ENSP00000367098:G233S;ENSP00000401369:G293S;ENSP00000398247:G293S;ENSP00000391137:G248S	ENSP00000275838:G248S	G	-	1	0	ASB10	150509321	1.000000	0.71417	0.845000	0.33349	0.204000	0.24138	5.741000	0.68638	1.332000	0.45431	0.655000	0.94253	GGC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	protein_coding	OTTHUMT00000347096.3	C	NM_080871	-		150878388	-1	no_errors	ENST00000422024	ensembl	human	known	74_37	missense	SNP	0.999	T	T	150878388	C	T	150878388	3	4	112	1	0	0	0	0	1	0	0	0	1014	681	24	2	673	2	ASB10	7	150878388	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	323807	150878388	8260275	489	7984											
PAXIP1	22976	genome.wustl.edu	37	chr7	154751628	154751628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgcagacacttttaagGgaactctccaagcatctaaa	6	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:154751628G>A	ENST00000404141.1	-	13	2604	c.2450C>T	c.(2449-2451)cCc>cTc	p.P817L	RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000397192.1_Missense_Mutation_p.P817L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	817	Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CACTTTTAAGGGAACTCTCCA	0.323																																																	0								ENSG00000157212						127	125	125					7																	154751628		1826	4082	5908	PAXIP1	SO:0001583	missense	0			-	HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2450C>T	7.37:g.154751628G>A	ENSP00000384048:p.Pro817Leu	Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P817L	ENST00000404141.1	37	c.2450	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370492	0.61624	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.38401	1.14;1.14	4.81	4.81	0.61882	.	0.000000	0.52532	U	0.000073	T	0.61135	0.2323	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.982	D;D;P	0.91635	0.987;0.999;0.781	T	0.66488	-0.5911	10	0.87932	D	0	-23.3774	17.9072	0.88921	0.0:0.0:1.0:0.0	.	770;783;817	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	L	817;817;641;770	ENSP00000384048:P817L;ENSP00000380376:P817L	ENSP00000319149:P770L	P	-	2	0	PAXIP1	154382561	1.000000	0.71417	0.431000	0.26735	0.976000	0.68499	7.645000	0.83430	2.226000	0.72624	0.650000	0.86243	CCC	-	NULL		0.323	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	G	NM_007349	-		154751628	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	SNP	0.993	A	A	154751628	G	A	154751628	3	1	112	1	0	0	0	0	1	0	0	0	11489	1232	43	2	795	2	PAXIP1	7	154751628	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3873240	154751628	4387035	490	7985											
PAXIP1	22976	genome.wustl.edu	37	chr7	154774975	154774975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcatttcttattgaggGttagctggcaatctccccca	10	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:154774975G>A	ENST00000404141.1	-	5	546	c.392C>T	c.(391-393)aCc>aTc	p.T131I	PAXIP1_ENST00000397192.1_Missense_Mutation_p.T131I|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	131	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTATTGAGGGTTAGCTGGCA	0.428																																																	0								ENSG00000157212						57	56	57					7																	154774975		1886	4114	6000	PAXIP1	SO:0001583	missense	0			-	HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.392C>T	7.37:g.154774975G>A	ENSP00000384048:p.Thr131Ile	Somatic	0	134	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	62	33.33	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T131I	ENST00000404141.1	37	c.392	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375149	0.24857	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	D;D;D	0.83335	-1.71;-1.71;-1.71	5.05	-10.1	0.00402	BRCT (3);	0.550424	0.16323	N	0.219466	T	0.76278	0.3965	L	0.48642	1.525	0.09310	N	1	B;B;B;D	0.55172	0.0;0.001;0.0;0.97	B;B;B;P	0.58780	0.002;0.001;0.001;0.845	T	0.68146	-0.5486	10	0.30078	T	0.28	-0.0345	2.1749	0.03859	0.1341:0.249:0.2787:0.3382	.	84;40;97;131	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	I	131;131;79;84;89	ENSP00000384048:T131I;ENSP00000380376:T131I;ENSP00000389849:T89I	ENSP00000319149:T84I	T	-	2	0	PAXIP1	154405908	0.006000	0.16342	0.000000	0.03702	0.060000	0.15804	-0.838000	0.04372	-3.091000	0.00247	-0.992000	0.02543	ACC	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.428	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	G	NM_007349	-		154774975	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	SNP	0.000	A	A	154774975	G	A	154774975	3	1	112	1	0	0	0	0	1	0	0	0	11489	1261	44	2	2885	2	PAXIP1	7	154774975	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	23347	154774975	4363688	491	7986											
PTPRN2	5799	genome.wustl.edu	37	chr7	157931050	157931050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctccagactctcccagGgccgctctcccagggctgcc	10	18	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:157931050G>A	ENST00000389418.4	-	7	1077	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	PTPRN2_ENST00000409483.1_Silent_p.A318A|PTPRN2_ENST00000389413.3_Silent_p.A356A|PTPRN2_ENST00000404321.2_Silent_p.A379A|PTPRN2_ENST00000389416.4_Silent_p.A339A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	356					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)			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)		ACTCTCCCAGGGCCGCTCTCC	0.667																																																	0								ENSG00000155093						50	54	52					7																	157931050		2203	4300	6503	PTPRN2	SO:0001819	synonymous_variant	0			-	HGNC	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.1068C>T	7.37:g.157931050G>A		Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A379	ENST00000389418.4	37	c.1137	CCDS5947.1	7																																																																																			-	NULL		0.667	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	G		-		157931050	-1	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	SNP	0.000	A	A	157931050	G	A	157931050	2	1	112	1	0	0	0	0	0	0	0	1	12816	1219	43	2		2	PTPRN2	7	157931050	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3156075	157931050	1207613	492	7987											
CSMD1	64478	genome.wustl.edu	37	chr8	3087730	3087730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttggggcatacctggatCgttacaggtggctgcaattg	13	7	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:3087730C>T	ENST00000520002.1	-	28	4735	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1394N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1394N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1394N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1394	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		ATACCTGGATCGTTACAGGTG	0.517																																																	0								ENSG00000183117						58	57	57					8																	3087730		2000	4194	6194	CSMD1	SO:0001583	missense	0			-	HGNC			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.4180G>A	8.37:g.3087730C>T	ENSP00000430733:p.Asp1394Asn	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	23	58.18	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D1394N	ENST00000520002.1	37	c.4180		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.170291|4.170291	0.78452|0.78452	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16|.	6.1|6.1	6.1|6.1	0.99115|0.99115	Complement control module (2);Sushi/SCR/CCP (3);|.	0.131490|.	0.48286|.	D|.	0.000181|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.982;0.999|.	T|T	0.70502|0.70502	-0.4854|-0.4854	10|5	0.72032|.	D|.	0.01|.	.|.	20.7146|20.7146	0.99709|0.99709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1394;1394;1394|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	N|Q	1394;1394;1256;1393;1393;1393|873	ENSP00000383047:D1394N;ENSP00000430733:D1394N;ENSP00000441462:D1393N;ENSP00000446243:D1393N;ENSP00000441675:D1393N|.	ENSP00000320445:D1256N|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	3075137|3075137	1.000000|1.000000	0.71417|0.71417	0.627000|0.627000	0.29227|0.29227	0.068000|0.068000	0.16541|0.16541	7.634000|7.634000	0.83273|0.83273	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	GAT|CGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		3087730	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3087730	C	T	3087730	3	4	112	1	0	0	0	0	1	0	0	0	3946	884	31	1	6693	1	CSMD1	8	3087730	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		3087730	143276292	493	7988											
SLC7A2	6542	genome.wustl.edu	37	chr8	17409438	17409438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtagcgtttgaatatgtggGatggggtcctgccaaatatg	14	5	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:17409438G>A	ENST00000494857.1	+	7	1216	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SLC7A2_ENST00000398090.3_Missense_Mutation_p.G373E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G373E|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G333E|SLC7A2_ENST00000470360.1_Missense_Mutation_p.G373E	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	333					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATATGTGGGATGGGGTCCT	0.502																																																	0								ENSG00000003989						124	122	123					8																	17409438		2203	4300	6503	SLC7A2	SO:0001583	missense	0			-	HGNC	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.998G>A	8.37:g.17409438G>A	ENSP00000419140:p.Gly333Glu	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	25	56.14	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.G373E	ENST00000494857.1	37	c.1118	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179143	0.78564	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.26	5.26	0.73747	Amino acid permease domain (1);	0.093176	0.85682	D	0.000000	D	0.97595	0.9212	H	0.96833	3.89	0.80722	D	1	D;D;D	0.63880	0.993;0.991;0.971	P;P;D	0.72338	0.833;0.684;0.977	D	0.98229	1.0482	10	0.56958	D	0.05	.	19.2416	0.93887	0.0:0.0:1.0:0.0	.	373;373;333	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	E	333;333;373;373;373	ENSP00000419140:G333E;ENSP00000430464:G333E;ENSP00000419873:G373E;ENSP00000004531:G373E;ENSP00000381164:G373E	ENSP00000004531:G373E	G	+	2	0	SLC7A2	17453816	1.000000	0.71417	0.989000	0.46669	0.274000	0.26718	8.004000	0.88535	2.621000	0.88768	0.655000	0.94253	GGA	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.502	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	G	NM_003046	-		17409438	1	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17409438	G	A	17409438	3	1	112	1	0	0	0	0	1	0	0	0	14705	1174	41	2	1140	2	SLC7A2	8	17409438	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	14321708	17409438	128954584	494	7989											
PPP3CC	5533	genome.wustl.edu	37	chr8	22370843	22370843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcccgcctttggacctgTgtgtgacctgctttggtctg	11	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:22370843T>C	ENST00000240139.5	+	6	995	c.668T>C	c.(667-669)gTg>gCg	p.V223A	PPP3CC_ENST00000518852.1_Missense_Mutation_p.V223A|PPP3CC_ENST00000289963.8_Missense_Mutation_p.V223A|PPP3CC_ENST00000397775.3_Missense_Mutation_p.V223A	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	223					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTGGACCTGTGTGTGACCTG	0.463																																																	0								ENSG00000120910						180	167	171					8																	22370843		2203	4300	6503	PPP3CC	SO:0001583	missense	0			-	HGNC		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.668T>C	8.37:g.22370843T>C	ENSP00000240139:p.Val223Ala	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	42	19.23	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP							pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.V223A	ENST00000240139.5	37	c.668	CCDS34859.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.34|14.34	2.505421|2.505421	0.44558|0.44558	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05649	.|3.41;3.41;3.41;3.41;3.41	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.041756	.|0.85682	.|D	.|0.000000	T|T	0.06188|0.06188	0.0160|0.0160	N|N	0.17082|0.17082	0.46|0.46	0.48288|0.48288	D|D	0.999621|0.999621	.|B;B;B;B	.|0.20261	.|0.043;0.035;0.043;0.035	.|B;B;B;B	.|0.25987	.|0.065;0.026;0.045;0.039	T|T	0.33445|0.33445	-0.9868|-0.9868	5|10	.|0.87932	.|D	.|0	-17.4254|-17.4254	14.5786|14.5786	0.68268|0.68268	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|223;223;223;223	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	R|A	73;100|223;223;223;223;49	.|ENSP00000429379:V223A;ENSP00000240139:V223A;ENSP00000289963:V223A;ENSP00000380878:V223A;ENSP00000430555:V49A	.|ENSP00000240139:V223A	C|V	+|+	1|2	0|0	PPP3CC|PPP3CC	22426788|22426788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.233000|0.233000	0.25261|0.25261	7.997000|7.997000	0.88414|0.88414	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	TGT|GTG	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.463	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	protein_coding	OTTHUMT00000375652.1	T	NM_005605	-		22370843	1	no_errors	ENST00000240139	ensembl	human	known	74_37	missense	SNP	1.000	C	C	22370843	T	C	22370843	3	2	112	1	0	0	0	0	1	0	0	0	12404	1696	59	5	690	5	PPP3CC	8	22370843	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	4961405	22370843	123993179	495	7990											
EBF2	64641	genome.wustl.edu	37	chr8	25747297	25747297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgagtcttcttgctctcCgtccatgcttggagttgtta	10	10	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:25747297C>T	ENST00000520164.1	-	8	1259	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EBF2_ENST00000535548.1_5'Flank|EBF2_ENST00000408929.3_Missense_Mutation_p.R93Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	241					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTTGCTCTCCGTCCATGCTT	0.458																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0								ENSG00000221818						111	104	106					8																	25747297		2010	4192	6202	EBF2	SO:0001583	missense	0			-	HGNC	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.722G>A	8.37:g.25747297C>T	ENSP00000430241:p.Arg241Gln	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	17	56.41	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP							pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.R241Q	ENST00000520164.1	37	c.722	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643072	0.87859	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.55234	0.57;0.53	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.87269	2.87	0.80722	D	1	D	0.65815	0.995	P	0.48840	0.592	T	0.76361	-0.2987	10	0.87932	D	0	-16.1316	19.6778	0.95943	0.0:1.0:0.0:0.0	.	241	Q9HAK2	COE2_HUMAN	Q	241;93	ENSP00000430241:R241Q;ENSP00000386178:R93Q	ENSP00000386178:R93Q	R	-	2	0	EBF2	25803214	1.000000	0.71417	0.998000	0.56505	0.593000	0.36681	7.818000	0.86416	2.663000	0.90544	0.655000	0.94253	CGG	-	NULL		0.458	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	protein_coding	OTTHUMT00000375886.2	C	NM_022659	-		25747297	-1	no_errors	ENST00000520164	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25747297	C	T	25747297	3	4	112	1	0	0	0	0	1	0	0	0	4883	652	23	1	1041	1	EBF2	8	25747297	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3376454	25747297	120616725	496	7991											
EXTL3	2137	genome.wustl.edu	37	chr8	28600611	28600611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctgacagtattatgcCtacctgtattcttatgtgat	6	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:28600611C>T	ENST00000220562.4	+	6	3332	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.A426A	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	810					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGTATTATGCCTACCTGTATT	0.468																																																	0								ENSG00000012232						207	184	192					8																	28600611		2203	4300	6503	EXTL3	SO:0001819	synonymous_variant	0			-	HGNC	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2430C>T	8.37:g.28600611C>T		Somatic	0	92	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	21	55.32	D3DST8|O00225|Q53XT3	Silent	SNP							pfam_HexNAc_Trfase_a,pfam_Exostosin	p.A810	ENST00000220562.4	37	c.2430	CCDS6070.1	8																																																																																			-	pfam_HexNAc_Trfase_a		0.468	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	protein_coding	OTTHUMT00000219987.3	C	NM_001440	-		28600611	1	no_errors	ENST00000220562	ensembl	human	known	74_37	silent	SNP	1.000	T	T	28600611	C	T	28600611	2	4	112	1	0	0	0	0	0	0	0	1	5329	668	24	2		2	EXTL3	8	28600611	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2853314	28600611	117763411	497	7992											
UNC5D	137970	genome.wustl.edu	37	chr8	35544127	35544127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagtgtgaacatttgcgGatccgggagtgcacagcacc	13	11	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:35544127G>A	ENST00000404895.2	+	7	1312	c.984G>A	c.(982-984)cgG>cgA	p.R328R	UNC5D_ENST00000416672.1_Silent_p.R328R|UNC5D_ENST00000420357.1_Silent_p.R272R|UNC5D_ENST00000287272.2_Silent_p.R272R|UNC5D_ENST00000453357.2_Silent_p.R323R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	328	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AACATTTGCGGATCCGGGAGT	0.502																																																	0								ENSG00000156687						128	110	116					8																	35544127		2203	4300	6503	UNC5D	SO:0001819	synonymous_variant	0			-	HGNC	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.984G>A	8.37:g.35544127G>A		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	23	50.00	Q8WYP7	Silent	SNP							pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.R328	ENST00000404895.2	37	c.984	CCDS6093.2	8																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	protein_coding	OTTHUMT00000347586.2	G		-		35544127	1	no_errors	ENST00000404895	ensembl	human	known	74_37	silent	SNP	0.290	A	A	35544127	G	A	35544127	2	1	112	1	0	0	0	0	0	0	0	1	17002	1161	41	2		2	UNC5D	8	35544127	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6943516	35544127	110819895	498	7993											
IDO2	169355	genome.wustl.edu	37	chr8	39873083	39873083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttcttaagagtgtcaggGataagaccttggagtcaatc	11	7	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:39873083G>A	ENST00000389060.4	+	10	1186	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.D409N			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	396					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GAGTGTCAGGGATAAGACCTT	0.557																																																	0								ENSG00000188676						111	108	109					8																	39873083		1971	4151	6122	IDO2	SO:0001583	missense	0			-	HGNC	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1186G>A	8.37:g.39873083G>A	ENSP00000426447:p.Asp396Asn	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	A4UD41	Missense_Mutation	SNP							pfam_Indolamine_dOase	p.D409N	ENST00000389060.4	37	c.1225		8	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071312	0.20147	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.54071	0.59;0.59	5.93	1.75	0.24633	.	0.535457	0.21358	N	0.075852	T	0.43722	0.1260	L	0.53671	1.685	0.26488	N	0.974985	B;B	0.17268	0.021;0.018	B;B	0.18263	0.009;0.021	T	0.31586	-0.9938	9	.	.	.	.	9.3874	0.38352	0.3254:0.0:0.6746:0.0	.	409;396	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	N	409;396	ENSP00000443432:D409N;ENSP00000426447:D396N	.	D	+	1	0	IDO2	39992240	1.000000	0.71417	0.982000	0.44146	0.225000	0.24961	3.792000	0.55476	0.282000	0.22254	0.655000	0.94253	GAT	-	pfam_Indolamine_dOase		0.557	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	protein_coding	OTTHUMT00000372742.1	G	NM_194294	-		39873083	1	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39873083	G	A	39873083	3	1	112	1	0	0	0	0	1	0	0	0	7504	1174	41	2	1267	2	IDO2	8	39873083	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4328956	39873083	106490939	499	7994											
UBE2V2	7336	genome.wustl.edu	37	chr8	48973359	48973359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatatgaagcttccacagCcaccagaaggacaaacatac	6	11	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:48973359C>T	ENST00000523111.2	+	4	464	c.409C>T	c.(409-411)Cca>Tca	p.P137S	UBE2V2_ENST00000520809.1_Missense_Mutation_p.P97S|UBE2V2_ENST00000521346.1_Missense_Mutation_p.P97S|UBE2V2_ENST00000517630.1_Missense_Mutation_p.P97S	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	137					cell proliferation (GO:0008283)|DNA double-strand break processing (GO:0000729)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of DNA repair (GO:0045739)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of synapse assembly (GO:0051965)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of DNA repair (GO:0006282)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|UBC13-MMS2 complex (GO:0031372)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				GCTTCCACAGCCACCAGAAGG	0.333								Rad6 pathway																																									0								ENSG00000169139						75	72	73					8																	48973359		1895	4111	6006	UBE2V2	SO:0001583	missense	0			-	HGNC	X98091	CCDS43738.1	8q11.21	2008-02-05			ENSG00000169139	ENSG00000169139		"Ubiquitin-conjugating enzymes E2"	12495	protein-coding gene	gene with protein product		603001				9418904, 9199207	Standard	NM_003350		Approved	UEV-2, DDVit-1, EDPF-1, MMS2	uc003xqm.3	Q15819	OTTHUMG00000164206	ENST00000523111.2:c.409C>T	8.37:g.48973359C>T	ENSP00000428209:p.Pro137Ser	Somatic	0	134	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	76	36.67		Missense_Mutation	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P137S	ENST00000523111.2	37	c.409	CCDS43738.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.187642|4.187642	0.78789|0.78789	.|.	.|.	ENSG00000169139|ENSG00000169139	ENST00000324746|ENST00000523111;ENST00000521346;ENST00000517630;ENST00000520809;ENST00000520595;ENST00000521628	.|T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	.|0.046552	.|0.85682	.|D	.|0.000000	T|T	0.53867|0.53867	0.1823|0.1823	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.69142	.|0.962	T|T	0.70730|0.70730	-0.4792|-0.4792	5|10	.|0.87932	.|D	.|0	-17.6504|-17.6504	19.5281|19.5281	0.95214|0.95214	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|137	.|Q15819	.|UB2V2_HUMAN	V|S	90|137;97;97;97;50;50	.|ENSP00000428209:P137S;ENSP00000428818:P97S;ENSP00000429886:P97S;ENSP00000429419:P97S	.|ENSP00000429886:P97S	A|P	+|+	2|1	0|0	UBE2V2|UBE2V2	49135912|49135912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.293000|7.293000	0.78740|0.78740	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.333	UBE2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2V2	protein_coding	OTTHUMT00000377808.3	C	NM_003350	-		48973359	1	no_errors	ENST00000523111	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48973359	C	T	48973359	3	4	112	1	0	0	0	0	1	0	0	0	16883	739	26	2	423	2	UBE2V2	8	48973359	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9100276	48973359	97390663	500	7995											
PXDNL	137902	genome.wustl.edu	37	chr8	52359645	52359645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattcatattggccttgatCgtgctgtgctgcacggtcaa	10	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:52359645C>T	ENST00000356297.4	-	12	1544	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D482N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	482	Ig-like C2-type 3.				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)			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)				TGGCCTTGATCGTGCTGTGCT	0.473																																																	0								ENSG00000147485						148	145	146					8																	52359645		2026	4179	6205	PXDNL	SO:0001583	missense	0			-	HGNC		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.1444G>A	8.37:g.52359645C>T	ENSP00000348645:p.Asp482Asn	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	23	65.67	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.D482N	ENST00000356297.4	37	c.1444	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	14.80	2.645018	0.47258	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.80994	-1.44;-1.44	4.02	0.972	0.19704	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88385	0.6422	M	0.91972	3.26	0.28311	N	0.922691	D	0.71674	0.998	P	0.62435	0.902	T	0.79055	-0.1960	9	0.56958	D	0.05	.	5.8693	0.18795	0.0:0.5088:0.3787:0.1125	.	482	A1KZ92	PXDNL_HUMAN	N	482	ENSP00000348645:D482N;ENSP00000444865:D482N	ENSP00000348645:D482N	D	-	1	0	PXDNL	52522198	0.997000	0.39634	0.022000	0.16811	0.390000	0.30446	2.035000	0.41155	-0.135000	0.11495	0.467000	0.42956	GAT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	C	NM_144651	-		52359645	-1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	SNP	0.973	T	T	52359645	C	T	52359645	3	4	112	1	0	0	0	0	1	0	0	0	12856	884	31	1	2995	1	PXDNL	8	52359645	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3386286	52359645	94004377	501	7996											
ASPH	444	genome.wustl.edu	37	chr8	62559369	62559369	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctacatcagtcgccataaGaaactcatcatcctcttgtt	4	12	5	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:62559369G>A	ENST00000379454.4	-	6	746	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522919.1_5'Flank|ASPH_ENST00000517903.1_Missense_Mutation_p.L173F|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000445642.3_Missense_Mutation_p.L173F|ASPH_ENST00000541428.1_Missense_Mutation_p.L158F|ASPH_ENST00000356457.5_Missense_Mutation_p.L187F|ASPH_ENST00000517847.2_Missense_Mutation_p.L173F	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	187	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTCGCCATAAGAAACTCATCA	0.388																																																	0								ENSG00000198363						387	389	388					8																	62559369		2203	4300	6503	ASPH	SO:0001583	missense	0			-	HGNC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.559C>T	8.37:g.62559369G>A	ENSP00000368767:p.Leu187Phe	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	73	29.81	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L187F	ENST00000379454.4	37	c.559	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829469	0.32329	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000517903;ENST00000445642;ENST00000517847	T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.48	1.48	0.22813	Aspartyl beta-hydroxylase/Triadin domain (1);	0.945325	0.08945	N	0.870918	T	0.40909	0.1136	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B;B;B	0.32731	0.077;0.382;0.328;0.016;0.113;0.023;0.328;0.009	B;B;B;B;B;B;B;B	0.40038	0.018;0.317;0.115;0.009;0.021;0.016;0.115;0.022	T	0.36480	-0.9746	10	0.15499	T	0.54	-1.3775	4.0294	0.09701	0.1819:0.0:0.4938:0.3242	.	187;173;173;158;187;187;173;187	B8Y0L3;B7ZM95;B7ZM96;F5H667;F8W7A9;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;ASPH_HUMAN	F	187;158;187;187;202;173;173;173	ENSP00000437864:L158F;ENSP00000368767:L187F;ENSP00000348841:L187F;ENSP00000427823:L202F;ENSP00000430245:L173F;ENSP00000394013:L173F;ENSP00000429954:L173F	ENSP00000348841:L187F	L	-	1	0	ASPH	62721923	0.374000	0.25081	0.003000	0.11579	0.000000	0.00434	0.974000	0.29436	0.054000	0.16065	-0.181000	0.13052	CTT	-	pfam_Asp-B-hydro/Triadin_dom		0.388	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	protein_coding	OTTHUMT00000378510.3	G	NM_004318	-		62559369	-1	no_errors	ENST00000379454	ensembl	human	known	74_37	missense	SNP	0.002	A	A	62559369	G	A	62559369	3	1	112	1	0	0	0	0	1	0	0	0	1053	942	33	2	1809	2	ASPH	8	62559369	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10199724	62559369	83804653	502	7997											
KCNB2	9312	genome.wustl.edu	37	chr8	73848263	73848263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaacggacgaatttGgacaactcaatgacaaccgc	10	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:73848263G>A	ENST00000523207.1	+	3	1261	c.673G>A	c.(673-675)Gga>Aga	p.G225R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	225					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGACGAATTTGGACAACTCAA	0.468																																																	0								ENSG00000182674						190	169	176					8																	73848263		2203	4300	6503	KCNB2	SO:0001583	missense	0			-	HGNC	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.673G>A	8.37:g.73848263G>A	ENSP00000430846:p.Gly225Arg	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	40	34.43	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.G225R	ENST00000523207.1	37	c.673	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145858	0.57044	.	.	ENSG00000182674	ENST00000523207	D	0.97598	-4.45	5.93	5.93	0.95920	.	0.000000	0.44902	D	0.000411	D	0.98661	0.9551	M	0.87682	2.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	D	0.99007	1.0813	10	0.66056	D	0.02	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	225	Q92953	KCNB2_HUMAN	R	225	ENSP00000430846:G225R	ENSP00000430846:G225R	G	+	1	0	KCNB2	74010817	1.000000	0.71417	0.126000	0.21872	0.033000	0.12548	6.812000	0.75226	2.808000	0.96608	0.655000	0.94253	GGA	-	NULL		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	protein_coding	OTTHUMT00000378998.1	G	NM_004770	-		73848263	1	no_errors	ENST00000523207	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73848263	G	A	73848263	3	1	112	1	0	0	0	0	1	0	0	0	8015	1349	47	2	679	2	KCNB2	8	73848263	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	11288894	73848263	72515759	503	7998											
JPH1	56704	genome.wustl.edu	37	chr8	75227588	75227588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcatgcttccaagaaggGagcccctccggaagaggccg	13	12	1	2	rs563245256		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:75227588G>A	ENST00000342232.4	-	2	687	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	216					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TCCAAGAAGGGAGCCCCTCCG	0.622																																																	0								ENSG00000104369						59	65	63					8																	75227588		2203	4300	6503	JPH1	SO:0001583	missense	0			-	HGNC	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.647C>T	8.37:g.75227588G>A	ENSP00000344488:p.Ser216Phe	Somatic	0	10	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	B2RTZ0	Missense_Mutation	SNP							pfam_MORN,smart_MORN,pirsf_Junctophilin	p.S216F	ENST00000342232.4	37	c.647	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468242	0.63625	.	.	ENSG00000104369	ENST00000342232	T	0.61040	0.14	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79990	-0.1570	10	0.62326	D	0.03	.	18.2573	0.90023	0.0:0.0:1.0:0.0	.	216	Q9HDC5	JPH1_HUMAN	F	216	ENSP00000344488:S216F	ENSP00000344488:S216F	S	-	2	0	JPH1	75390143	1.000000	0.71417	0.952000	0.39060	0.315000	0.28087	9.587000	0.98229	2.519000	0.84933	0.655000	0.94253	TCC	-	pirsf_Junctophilin		0.622	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	protein_coding	OTTHUMT00000379102.1	G		-		75227588	-1	no_errors	ENST00000342232	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75227588	G	A	75227588	3	1	112	1	0	0	0	0	1	0	0	0	7962	1174	41	2	1354	2	JPH1	8	75227588	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1379325	75227588	71136434	504	7999											
ZFHX4	79776	genome.wustl.edu	37	chr8	77763442	77763442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcgacaatgtgtaacCtctgccagcgcagtttccgt	12	12	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:77763442C>T	ENST00000521891.2	+	10	4733	c.4285C>T	c.(4285-4287)Ctc>Ttc	p.L1429F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1384F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1384F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1403F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1384					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)			AATGTGTAACCTCTGCCAGCG	0.458										HNSCC(33;0.089)																																							0								ENSG00000091656						48	45	46					8																	77763442		1933	4138	6071	ZFHX4	SO:0001583	missense	0			-	HGNC		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.4285C>T	8.37:g.77763442C>T	ENSP00000430497:p.Leu1429Phe	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	47	35.62	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L1429F	ENST00000521891.2	37	c.4285	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835518	0.50951	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.39341	U	0.001382	T	0.47021	0.1423	L	0.34521	1.04	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.47861	-0.9084	10	0.72032	D	0.01	.	18.4109	0.90550	0.0:1.0:0.0:0.0	.	1384;1384;1429	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1429;1429;1384;1384;1403	ENSP00000430497:L1429F;ENSP00000399605:L1384F;ENSP00000050961:L1384F;ENSP00000430848:L1403F	ENSP00000050961:L1384F	L	+	1	0	ZFHX4	77925997	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.582000	0.60957	2.589000	0.87451	0.549000	0.68633	CTC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	C	NM_024721	-		77763442	1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77763442	C	T	77763442	3	4	112	1	0	0	0	0	1	0	0	0	17642	681	24	2	4319	2	ZFHX4	8	77763442	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2535854	77763442	68600580	505	8000											
ZFHX4	79776	genome.wustl.edu	37	chr8	77775449	77775451	+	In_Frame_Del	DEL	CCT	CCT	-													agactccaccacctccaccaCctcctcctcctcctcctcct					rs199874527		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:77775449_77775451delCCT	ENST00000521891.2	+	11	9947_9949	c.9499_9501delCCT	c.(9499-9501)cctdel	p.P3173del	ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del|ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3124					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)	p.P3151H(1)		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)			acctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	large_intestine(1)						ENSG00000091656			40,3796		5,30,1883						2.2	1			54	74,7900		1,72,3914	no	coding	ZFHX4	NM_024721.4		6,102,5797	A1A1,A1R,RR		0.928,1.0428,0.9653				114,11696				ZFHX4	SO:0001651	inframe_deletion	0				HGNC		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.9499_9501delCCT	8.37:g.77775458_77775460delCCT	ENSP00000430497:p.Pro3173del	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P3170in_frame_del	ENST00000521891.2	37	c.9499_9501	CCDS47878.2	8																																																																																			-	NULL		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	CCT	NM_024721			77775451	1	no_errors	ENST00000521891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:0.995:0.658	-	-	77775451	CCT	-	77775449	7	5	112	1	0	1	0	1	0	0	0	0	17642	507	18	0	9537	0	ZFHX4	8	77775449	In_Frame_Del	DEL	CCT	TCGA-DX-AB2E-01A-11D-A38Z-09	12007	77775449	68588573	506	8001											
FAM164A	51101	genome.wustl.edu	37	chr8	79610654	79610654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttttattataaggtgttCcttcaggtaaagtgtcttca	7	6	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:79610654C>T	ENST00000263849.4	+	7	712	c.610C>T	c.(610-612)Cct>Tct	p.P204S		NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	204							metal ion binding (GO:0046872)										ATAAGGTGTTCCTTCAGGTAA	0.353																																																	0								ENSG00000104427						104	103	103					8																	79610654		2203	4300	6503	ZC2HC1A	SO:0001583	missense	0			-	HGNC		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.610C>T	8.37:g.79610654C>T	ENSP00000263849:p.Pro204Ser	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	70	21.35	Q9Y372	Missense_Mutation	SNP							NULL	p.P204S	ENST00000263849.4	37	c.610	CCDS6223.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.451573|1.451573	0.26074|0.26074	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.42513|.	0.97|.	5.75|5.75	0.688|0.688	0.18027|0.18027	.|.	0.659654|.	0.15602|.	N|.	0.253856|.	T|T	0.45034|0.45034	0.1322|0.1322	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.10296|.	0.003|.	B|.	0.17433|.	0.018|.	T|T	0.27706|0.27706	-1.0066|-1.0066	9|5	.|.	.|.	.|.	-2.2694|-2.2694	1.7608|1.7608	0.02992|0.02992	0.1314:0.4367:0.128:0.3039|0.1314:0.4367:0.128:0.3039	.|.	204|.	Q96GY0|.	F164A_HUMAN|.	S|F	204|36	ENSP00000263849:P204S|.	.|.	P|S	+|+	1|2	0|0	FAM164A|FAM164A	79773209|79773209	0.020000|0.020000	0.18652|0.18652	0.057000|0.057000	0.19452|0.19452	0.827000|0.827000	0.46813|0.46813	0.028000|0.028000	0.13644|0.13644	-0.158000|-0.158000	0.11040|0.11040	0.557000|0.557000	0.71058|0.71058	CCT|TCC	-	NULL		0.353	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	protein_coding	OTTHUMT00000379423.2	C	NM_016010	-		79610654	1	no_errors	ENST00000263849	ensembl	human	known	74_37	missense	SNP	0.063	T	T	79610654	C	T	79610654	3	4	112	1	0	0	0	0	1	0	0	0	5480	855	30	2	636	2	FAM164A	8	79610654	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1835205	79610654	66753368	507	8002											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885861	88885861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggttttgtgcgggtatacCcggagctcaggggtcgtcag	17	8	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:88885861C>T	ENST00000319675.3	-	1	435	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	113										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCGGGTATACCCGGAGCTCAG	0.542																																																	0								ENSG00000176566						133	129	130					8																	88885861		2203	4300	6503	DCAF4L2	SO:0001819	synonymous_variant	0			-	HGNC	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.339G>A	8.37:g.88885861C>T		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77		Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R113	ENST00000319675.3	37	c.339	CCDS6245.1	8																																																																																			-	superfamily_WD40_repeat_dom		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	protein_coding	OTTHUMT00000375302.1	C	NM_152418	-		88885861	-1	no_errors	ENST00000319675	ensembl	human	known	74_37	silent	SNP	0.165	T	T	88885861	C	T	88885861	2	4	112	1	0	0	0	0	0	0	0	1	4274	610	22	2		2	DCAF4L2	8	88885861	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9275207	88885861	57478161	508	8003											
INTS8	55656	genome.wustl.edu	37	chr8	95840008	95840008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggcaaaacccggacccCctcagttaagtgtgtaagtt	9	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:95840008C>T	ENST00000523731.1	+	4	638	c.505C>T	c.(505-507)Cct>Tct	p.P169S	INTS8_ENST00000447247.1_Missense_Mutation_p.P169S	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	169					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACCCGGACCCCCTCAGTTAAG	0.348																																																	0								ENSG00000164941						127	130	129					8																	95840008		2203	4300	6503	INTS8	SO:0001583	missense	0			-	HGNC	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.505C>T	8.37:g.95840008C>T	ENSP00000430338:p.Pro169Ser	Somatic	0	134	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	157	25.24	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP							NULL	p.P169S	ENST00000523731.1	37	c.505	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.12|17.12	3.308303|3.308303	0.60305|0.60305	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000521860|ENST00000522171;ENST00000519457;ENST00000519053;ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.9|5.9	5.0|5.0	0.66597|0.66597	.|.	0.097549|0.097549	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.45796|0.45796	0.1360|0.1360	L|L	0.29908|0.29908	0.895|0.895	0.43137|0.43137	D|D	0.994884|0.994884	.|B;B	.|0.28933	.|0.228;0.228	.|B;B	.|0.30855	.|0.121;0.121	T|T	0.32877|0.32877	-0.9890|-0.9890	7|9	0.38643|0.13108	T|T	0.18|0.6	-14.8658|-14.8658	16.5197|16.5197	0.84310|0.84310	0.1312:0.8688:0.0:0.0|0.1312:0.8688:0.0:0.0	.|.	.|169;169	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	L|S	156|128;122;60;169;169	.|.	ENSP00000430049:P156L|ENSP00000343274:P169S	P|P	+|+	2|1	0|0	INTS8|INTS8	95909184|95909184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.625000|5.625000	0.67770|0.67770	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	CCC|CCT	-	NULL		0.348	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	protein_coding	OTTHUMT00000379794.1	C	NM_017864	-		95840008	1	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95840008	C	T	95840008	3	4	112	1	0	0	0	0	1	0	0	0	7786	623	22	2	519	2	INTS8	8	95840008	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6954147	95840008	50524014	509	8004											
C8orf47	203111	genome.wustl.edu	37	chr8	99102153	99102153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagcagattcaacctgaagGaatagttggaagcatggagc	14	6	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:99102153G>A	ENST00000318528.3	+	2	1267	c.908G>A	c.(907-909)gGa>gAa	p.G303E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		303	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CAACCTGAAGGAATAGTTGGA	0.438																																																	0								ENSG00000177459						117	105	109					8																	99102153		2203	4300	6503	C8orf47	SO:0001583	missense	0			-	HGNC																												ENST00000318528.3:c.908G>A	8.37:g.99102153G>A	ENSP00000315614:p.Gly303Glu	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	23	50.00	G3V1K4|Q8N1L8	Missense_Mutation	SNP							NULL	p.G303E	ENST00000318528.3	37	c.908	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939398	0.18281	.	.	ENSG00000177459	ENST00000318528	T	0.20738	2.05	5.13	0.0364	0.14191	.	0.552945	0.16539	N	0.210052	T	0.16128	0.0388	L	0.51422	1.61	0.09310	N	0.999998	B	0.23540	0.087	B	0.25759	0.063	T	0.19386	-1.0307	10	0.45353	T	0.12	0.52	4.1577	0.10268	0.3492:0.0:0.4931:0.1576	.	303	Q6P6B1	CH047_HUMAN	E	303	ENSP00000315614:G303E	ENSP00000315614:G303E	G	+	2	0	C8orf47	99171329	0.011000	0.17503	0.161000	0.22692	0.007000	0.05969	-0.176000	0.09811	0.046000	0.15833	-0.793000	0.03317	GGA	-	NULL		0.438	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	protein_coding	OTTHUMT00000380465.1	G		-		99102153	1	no_errors	ENST00000318528	ensembl	human	known	74_37	missense	SNP	0.054	A	A	99102153	G	A	99102153	3	1	112	1	0	0	0	0	1	0	0	0	2434	1174	41	2	914	2	C8orf47	8	99102153	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3262145	99102153	47261869	510	8005											
RGS22	26166	genome.wustl.edu	37	chr8	101083692	101083692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttttttcacgatccaggGagaaaaatttgatcctactg	9	7	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:101083692G>A	ENST00000360863.6	-	6	693	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.P167S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	167				P -> S (in Ref. 1; AAG49397). {ECO:0000305}.	positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACGATCCAGGGAGAAAAATTT	0.378																																																	0								ENSG00000132554						177	150	158					8																	101083692		1841	4106	5947	RGS22	SO:0001583	missense	0			-	HGNC	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.499C>T	8.37:g.101083692G>A	ENSP00000354109:p.Pro167Ser	Somatic	0	121	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	90	28.57	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.P167S	ENST00000360863.6	37	c.499	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881738	0.33255	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.49720	0.77;0.89	4.86	3.99	0.46301	.	0.245550	0.33772	N	0.004577	T	0.46054	0.1373	M	0.72894	2.215	0.33823	D	0.629228	B;B	0.33857	0.429;0.429	B;B	0.29440	0.102;0.102	T	0.63211	-0.6688	10	0.59425	D	0.04	.	13.1862	0.59682	0.0778:0.0:0.9222:0.0	.	167;167	A8K944;Q8NE09	.;RGS22_HUMAN	S	167;167;167;86;71;71	ENSP00000354109:P167S;ENSP00000428212:P167S	ENSP00000354109:P167S	P	-	1	0	RGS22	101152868	1.000000	0.71417	0.984000	0.44739	0.428000	0.31595	4.711000	0.61881	1.191000	0.43056	0.484000	0.47621	CCC	-	NULL		0.378	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	protein_coding	OTTHUMT00000380365.1	G	NM_015668	-		101083692	-1	no_errors	ENST00000360863	ensembl	human	known	74_37	missense	SNP	0.995	A	A	101083692	G	A	101083692	3	1	112	1	0	0	0	0	1	0	0	0	13313	1174	41	2	3383	2	RGS22	8	101083692	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1981539	101083692	45280330	511	8006											
PABPC1	26986	genome.wustl.edu	37	chr8	101721931	101721931	+	Missense_Mutation	SNP	C	C	T													agaaacatacaaaaccaaacCctttgctgcgaccaccctcc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:101721931C>T	ENST00000318607.5	-	8	2129	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	PABPC1_ENST00000519004.1_Missense_Mutation_p.G289E|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.G302E|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	334	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAAACCAAACCCTTTGCTGCG	0.378																																																	0								ENSG00000070756						66	59	61					8																	101721931		2203	4300	6503	PABPC1	SO:0001583	missense	0			-	HGNC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1001G>A	8.37:g.101721931C>T	ENSP00000313007:p.Gly334Glu	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	68	29.90	Q15097|Q93004	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G334E	ENST00000318607.5	37	c.1001	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.876295|4.876295	0.91664|0.91664	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	T;T;T|T	0.26957|0.27104	1.7;1.7;1.7|1.69	4.92|4.92	4.92|4.92	0.64577|0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000009|0.000009	T|T	0.62514|0.62514	0.2434|0.2434	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.986;0.993;0.994|.	T|T	0.73754|0.73754	-0.3883|-0.3883	10|8	0.66056|0.87932	D|D	0.02|0	.|.	18.4911|18.4911	0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;334;334|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	E|S	334;334;289;302|203	ENSP00000313007:G334E;ENSP00000429594:G289E;ENSP00000429395:G302E|ENSP00000427914:G203S	ENSP00000313007:G334E|ENSP00000427914:G203S	G|G	-|-	2|1	0|0	PABPC1|PABPC1	101791107|101791107	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	7.748000|7.748000	0.85085|0.85085	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GGG|GGT	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.378	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	protein_coding	OTTHUMT00000380217.1	C	NM_002568	-		101721931	-1	no_errors	ENST00000318607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101721931	C	T	101721931	3	4	112	1	0	0	0	0	1	0	0	0	11365	623	22	2	937	2	PABPC1	8	101721931	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	638239	101721931	44642091	512	8007	118	2									
PABPC1	26986	genome.wustl.edu	37	chr8	101721932	101721932	+	Missense_Mutation	SNP	C	C	T													gaaacatacaaaaccaaaccCtttgctgcgaccaccctcca					rs112966887		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:101721932C>T	ENST00000318607.5	-	8	2128	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	PABPC1_ENST00000519004.1_Missense_Mutation_p.G289R|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.G302R|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	334	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAACCAAACCCTTTGCTGCGA	0.378																																																	0								ENSG00000070756						65	58	60					8																	101721932		2203	4300	6503	PABPC1	SO:0001583	missense	0			-	HGNC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1000G>A	8.37:g.101721932C>T	ENSP00000313007:p.Gly334Arg	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	67	29.47	Q15097|Q93004	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G334R	ENST00000318607.5	37	c.1000	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.947690|4.947690	0.92593|0.92593	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596	T;T;T|.	0.26373|.	1.74;1.74;1.74|.	4.92|4.92	4.92|4.92	0.64577|0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.64402|.	D|.	0.000009|.	D|D	0.83394|0.83394	0.5245|0.5245	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.81914|.	0.986;0.995;0.994|.	D|D	0.85988|0.85988	0.1487|0.1487	10|5	0.87932|.	D|.	0|.	.|.	18.4911|18.4911	0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;334;334|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	R|K	334;334;289;302|166	ENSP00000313007:G334R;ENSP00000429594:G289R;ENSP00000429395:G302R|.	ENSP00000313007:G334R|.	G|R	-|-	1|2	0|0	PABPC1|PABPC1	101791108|101791108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.018000|6.018000	0.70811|0.70811	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GGG|AGG	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.378	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	protein_coding	OTTHUMT00000380217.1	C	NM_002568	-		101721932	-1	no_errors	ENST00000318607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101721932	C	T	101721932	3	4	112	1	0	0	0	0	1	0	0	0	11365	681	24	2	938	2	PABPC1	8	101721932	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	101721932	44642090	513	8008	118	2									
ZFPM2	23414	genome.wustl.edu	37	chr8	106814453	106814453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attactgtgctacacgccacGaccctccactgaagaggtct	8	14	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:106814453G>A	ENST00000407775.2	+	8	2393	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	ZFPM2_ENST00000517361.1_Missense_Mutation_p.D583N|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D583N|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.D446N|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	715					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACACGCCACGACCCTCCACT	0.498																																																	0								ENSG00000169946						54	53	53					8																	106814453		2079	4209	6288	ZFPM2	SO:0001583	missense	0			-	HGNC	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2143G>A	8.37:g.106814453G>A	ENSP00000384179:p.Asp715Asn	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D715N	ENST00000407775.2	37	c.2143	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869381	0.91587	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24538	1.85;2.35;2.35;3.58	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45190	-0.9278	10	0.42905	T	0.14	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	715	Q8WW38	FOG2_HUMAN	N	715;583;583;446	ENSP00000384179:D715N;ENSP00000430757:D583N;ENSP00000428720:D583N;ENSP00000367733:D446N	ENSP00000367733:D446N	D	+	1	0	ZFPM2	106883629	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	GAC	-	NULL		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	G		-		106814453	1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106814453	G	A	106814453	3	1	112	1	0	0	0	0	1	0	0	0	17665	1058	37	1	2173	1	ZFPM2	8	106814453	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5092521	106814453	39549569	514	8009											
ABRA	137735	genome.wustl.edu	37	chr8	107782101	107782101	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accgttttggacacctctttCtttttgatgtgagaaacctc	7	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:107782101C>T	ENST00000311955.3	-	1	372	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACACCTCTTTCTTTTTGATGT	0.542																																																	0								ENSG00000174429						124	121	122					8																	107782101		2203	4300	6503	ABRA	SO:0001819	synonymous_variant	0			-	HGNC	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.318G>A	8.37:g.107782101C>T		Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	44	39.47		Silent	SNP							NULL	p.K106	ENST00000311955.3	37	c.318	CCDS6305.1	8																																																																																			-	NULL		0.542	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	protein_coding	OTTHUMT00000380416.1	C	NM_139166	-		107782101	-1	no_errors	ENST00000311955	ensembl	human	known	74_37	silent	SNP	1.000	T	T	107782101	C	T	107782101	2	4	112	1	0	0	0	0	0	0	0	1	100	912	32	2		2	ABRA	8	107782101	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	967648	107782101	38581921	515	8010											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110445410	110445410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctgtaacagtctcagTtggaccagtaggttgttctc	10	9	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:110445410T>C	ENST00000378402.5	+	28	3409	c.3305T>C	c.(3304-3306)gTt>gCt	p.V1102A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1102	IPT/TIG 4.				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)			ACAGTCTCAGTTGGACCAGTA	0.368										HNSCC(38;0.096)																																							0								ENSG00000205038						253	240	244					8																	110445410		1829	4085	5914	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.3305T>C	8.37:g.110445410T>C	ENSP00000367655:p.Val1102Ala	Somatic	0	166	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	157	29.46	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.V1102A	ENST00000378402.5	37	c.3305	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986686	0.35036	.	.	ENSG00000205038	ENST00000378402	T	0.79141	-1.24	5.51	4.35	0.52113	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.338132	0.27705	N	0.018189	T	0.78413	0.4279	M	0.80422	2.495	0.22933	N	0.998547	B	0.29232	0.238	B	0.34590	0.186	T	0.72737	-0.4203	10	0.72032	D	0.01	.	8.3543	0.32321	0.0:0.09:0.0:0.91	.	1102	Q86WI1	PKHL1_HUMAN	A	1102	ENSP00000367655:V1102A	ENSP00000367655:V1102A	V	+	2	0	PKHD1L1	110514586	1.000000	0.71417	0.998000	0.56505	0.493000	0.33554	2.005000	0.40864	1.023000	0.39654	0.533000	0.62120	GTT	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	T	NM_177531	-		110445410	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	0.996	C	C	110445410	T	C	110445410	3	2	112	1	0	0	0	0	1	0	0	0	11974	1725	60	5	3415	5	PKHD1L1	8	110445410	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2663309	110445410	35918612	516	8011											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110453571	110453571	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtattcttcattcaactggGaatatattcaggattaccaa	6	7	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:110453571G>A	ENST00000378402.5	+	34	4271	c.4167G>A	c.(4165-4167)ggG>ggA	p.G1389G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1389	IPT/TIG 7.				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)			ATTCAACTGGGAATATATTCA	0.299										HNSCC(38;0.096)																																							0								ENSG00000205038						43	43	43					8																	110453571		1811	4059	5870	PKHD1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.4167G>A	8.37:g.110453571G>A		Somatic	0	169	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	165	29.18	Q567P2|Q9UF27	Silent	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G1389	ENST00000378402.5	37	c.4167	CCDS47911.1	8																																																																																			-	superfamily_Ig_E-set,smart_IPT		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-		110453571	1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	SNP	0.150	A	A	110453571	G	A	110453571	2	1	112	1	0	0	0	0	0	0	0	1	11974	1161	41	2		2	PKHD1L1	8	110453571	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8161	110453571	35910451	517	8012											
CSMD3	114788	genome.wustl.edu	37	chr8	113841985	113841985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggtatcatagccaatctCcagatcaaattcttcaaaat	4	10	5	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:113841985C>T	ENST00000297405.5	-	12	2033	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E493K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E597K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E557K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	597	CUB 3. {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						TAGCCAATCTCCAGATCAAAT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						98	89	92					8																	113841985		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.1789G>A	8.37:g.113841985C>T	ENSP00000297405:p.Glu597Lys	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E597K	ENST00000297405.5	37	c.1789	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.312576	0.95655	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.04	5.04	0.67666	CUB (5);	0.000000	0.64402	D	0.000003	T	0.76357	0.3976	H	0.99368	4.535	0.43714	D	0.99618	P;D;D	0.89917	0.855;0.999;1.0	P;D;D	0.91635	0.492;0.998;0.999	D	0.83997	0.0341	10	0.24483	T	0.36	.	17.1472	0.86769	0.0:1.0:0.0:0.0	.	493;597;557	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	557;597;493;597	ENSP00000345799:E557K;ENSP00000297405:E597K;ENSP00000412263:E493K;ENSP00000343124:E597K	ENSP00000297405:E597K	E	-	1	0	CSMD3	113911161	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	7.511000	0.81718	2.359000	0.80004	0.650000	0.86243	GAG	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113841985	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113841985	C	T	113841985	3	4	112	1	0	0	0	0	1	0	0	0	3948	864	30	2	9574	2	CSMD3	8	113841985	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3388414	113841985	32522037	518	8013											
CSMD3	114788	genome.wustl.edu	37	chr8	114186119	114186119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctttgggtggaacaccagGatttccacaagagctactct	9	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:114186119G>A	ENST00000297405.5	-	4	785	c.541C>T	c.(541-543)Cct>Tct	p.P181S	CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000455883.2_Missense_Mutation_p.P181S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P181S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P141S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	181	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						GGAACACCAGGATTTCCACAA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						78	73	75					8																	114186119		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.541C>T	8.37:g.114186119G>A	ENSP00000297405:p.Pro181Ser	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P181S	ENST00000297405.5	37	c.541	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822040	0.50739	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	U	0.000019	D	0.95881	0.8659	H	0.98951	4.38	0.47037	D	0.999296	D;D;P;D	0.89917	1.0;1.0;0.533;0.991	D;D;B;P	0.87578	0.998;0.998;0.183;0.906	D	0.97667	1.0164	10	0.72032	D	0.01	.	17.883	0.88846	0.0:0.0:1.0:0.0	.	181;181;181;141	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	141;181;181;181	ENSP00000345799:P141S;ENSP00000297405:P181S;ENSP00000412263:P181S;ENSP00000343124:P181S	ENSP00000297405:P181S	P	-	1	0	CSMD3	114255295	1.000000	0.71417	0.974000	0.42286	0.413000	0.31143	9.743000	0.98849	2.537000	0.85549	0.655000	0.94253	CCT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		114186119	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114186119	G	A	114186119	3	1	112	1	0	0	0	0	1	0	0	0	3948	1174	41	2	10854	2	CSMD3	8	114186119	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	344134	114186119	32177903	519	8014											
ENPP2	5168	genome.wustl.edu	37	chr8	120598528	120598528	+	Frame_Shift_Del	DEL	T	T	-													ggtgctgtttcaagtaaggcTtaaagtgctgatctggtttt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:120598528delT	ENST00000075322.6	-	15	1323	c.1265delA	c.(1264-1266)aagfs	p.K422fs	ENPP2_ENST00000259486.6_Frame_Shift_Del_p.K474fs|ENPP2_ENST00000427067.2_Frame_Shift_Del_p.K418fs|ENPP2_ENST00000522826.1_Frame_Shift_Del_p.K422fs|ENPP2_ENST00000522167.1_Frame_Shift_Del_p.K61fs	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	422					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAAGTAAGGCTTAAAGTGCTG	0.373																																					Melanoma(20;305 879 2501 4818 31020)												0								ENSG00000136960						188	164	173					8																	120598528		2203	4300	6503	ENPP2	SO:0001589	frameshift_variant	0				HGNC	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1265delA	8.37:g.120598528delT	ENSP00000075322:p.Lys422fs	Somatic	0	119	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	128	21.47	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Frame_Shift_Del	DEL							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.K474fs	ENST00000075322.6	37	c.1421	CCDS34936.1	8																																																																																			-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	protein_coding	OTTHUMT00000381390.1	T				120598528	-1	no_errors	ENST00000259486	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	120598528	T	-	120598528	7	5	112	1	0	1	0	1	0	0	0	0	5132	1609	56	0	1449	0	ENPP2	8	120598528	Frame_Shift_Del	DEL	T	TCGA-DX-AB2E-01A-11D-A38Z-09	6412409	120598528	25765494	520	8015											
ENPP2	5168	genome.wustl.edu	37	chr8	120629450	120629450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttttagttgggtacaccGgcctcatgtagggagagtgt	15	6	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:120629450G>A	ENST00000075322.6	-	7	669	c.611C>T	c.(610-612)cCg>cTg	p.P204L	ENPP2_ENST00000259486.6_Missense_Mutation_p.P204L|ENPP2_ENST00000427067.2_Missense_Mutation_p.P200L|ENPP2_ENST00000522826.1_Missense_Mutation_p.P204L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	204					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGGTACACCGGCCTCATGTA	0.393																																					Melanoma(20;305 879 2501 4818 31020)												0								ENSG00000136960						78	76	77					8																	120629450		2203	4300	6503	ENPP2	SO:0001583	missense	0			-	HGNC	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.611C>T	8.37:g.120629450G>A	ENSP00000075322:p.Pro204Leu	Somatic	0	127	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	98	32.41	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P204L	ENST00000075322.6	37	c.611	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.278051	0.95459	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.81	5.81	0.92471	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.92604	3.325	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	0.91681	0.5358	10	0.87932	D	0	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	204;204;204	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	L	204;200;204;204;186	ENSP00000259486:P204L;ENSP00000403315:P200L;ENSP00000428291:P204L;ENSP00000075322:P204L;ENSP00000428304:P186L	ENSP00000075322:P204L	P	-	2	0	ENPP2	120698631	1.000000	0.71417	0.945000	0.38365	0.923000	0.55619	9.845000	0.99498	2.747000	0.94245	0.650000	0.86243	CCG	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.393	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	protein_coding	OTTHUMT00000381390.1	G		-		120629450	-1	no_errors	ENST00000259486	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120629450	G	A	120629450	3	1	112	1	0	0	0	0	1	0	0	0	5132	1116	39	1	2295	1	ENPP2	8	120629450	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	30922	120629450	25734572	521	8016											
HAS2	3037	genome.wustl.edu	37	chr8	122629392	122629392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggatcttcttctaaaaCttttaccatctccacagatg	5	11	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:122629392C>T	ENST00000303924.4	-	3	1219	c.682G>A	c.(682-684)Gtt>Att	p.V228I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	228					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTTCTAAAACTTTTACCATC	0.393																																																	0								ENSG00000170961						142	133	136					8																	122629392		2203	4300	6503	HAS2	SO:0001583	missense	0			-	HGNC	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.682G>A	8.37:g.122629392C>T	ENSP00000306991:p.Val228Ile	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.78	Q32MM3	Missense_Mutation	SNP							pfam_Chitin_synth_fng	p.V228I	ENST00000303924.4	37	c.682	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030632	0.75504	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59224	0.28	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	N	0.22421	0.69	0.80722	D	1	B	0.26672	0.156	B	0.30943	0.122	T	0.36817	-0.9732	10	0.25751	T	0.34	-18.3896	19.3687	0.94475	0.0:1.0:0.0:0.0	.	228	Q92819	HAS2_HUMAN	I	228	ENSP00000306991:V228I	ENSP00000306991:V228I	V	-	1	0	HAS2	122698573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.671000	0.61590	2.573000	0.86826	0.561000	0.74099	GTT	-	pfam_Chitin_synth_fng		0.393	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	protein_coding	OTTHUMT00000381150.2	C	NM_005328	-		122629392	-1	no_errors	ENST00000303924	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122629392	C	T	122629392	3	4	112	1	0	0	0	0	1	0	0	0	6964	565	20	2	984	2	HAS2	8	122629392	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1999942	122629392	23734630	522	8017											
ATAD2	29028	genome.wustl.edu	37	chr8	124359475	124359475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgtcacagctctttggGaggctggtatcatcttttgc	12	8	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:124359475G>A	ENST00000287394.5	-	16	2176	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.S8F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	690					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTCTTTGGGAGGCTGGTAT	0.453																																																	0								ENSG00000156802						124	121	122					8																	124359475		2203	4300	6503	ATAD2	SO:0001583	missense	0			-	HGNC	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2069C>T	8.37:g.124359475G>A	ENSP00000287394:p.Ser690Phe	Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	55	46.60	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S690F	ENST00000287394.5	37	c.2069	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.247514	0.95305	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.93712	-3.27;0.2	5.49	5.49	0.81192	.	0.132495	0.52532	D	0.000065	D	0.96589	0.8887	M	0.84683	2.71	0.58432	D	0.999993	D	0.61697	0.99	P	0.58266	0.836	D	0.96858	0.9630	10	0.87932	D	0	-3.5213	19.7434	0.96241	0.0:0.0:1.0:0.0	.	690	Q6PL18	ATAD2_HUMAN	F	690;8	ENSP00000287394:S690F;ENSP00000429213:S8F	ENSP00000287394:S690F	S	-	2	0	ATAD2	124428656	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.809000	0.99208	2.716000	0.92895	0.591000	0.81541	TCC	-	NULL		0.453	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	protein_coding	OTTHUMT00000381766.2	G	NM_014109	-		124359475	-1	no_errors	ENST00000287394	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124359475	G	A	124359475	3	1	112	1	0	0	0	0	1	0	0	0	1071	1174	41	2	2155	2	ATAD2	8	124359475	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1730083	124359475	22004547	523	8018											
FER1L6	654463	genome.wustl.edu	37	chr8	125132008	125132008	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccaggagccatcagcCgaaggatcgttgtgggctca	13	12	2	0	rs201702749		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:125132008C>G	ENST00000522917.1	+	41	5757	c.5551C>G	c.(5551-5553)Cga>Gga	p.R1851G	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851G	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1851						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCCATCAGCCGAAGGATCGT	0.458																																																	0								ENSG00000214814						173	182	179					8																	125132008		2040	4190	6230	FER1L6	SO:0001583	missense	0			-	HGNC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5551C>G	8.37:g.125132008C>G	ENSP00000428280:p.Arg1851Gly	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.R1851G	ENST00000522917.1	37	c.5551	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495949	0.44352	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81330	-1.48;-1.48	6.03	5.13	0.70059	.	1.303970	0.05193	U	0.503432	T	0.68072	0.2961	N	0.08118	0	0.37909	D	0.931308	B	0.25007	0.116	B	0.23150	0.044	T	0.50039	-0.8874	10	0.40728	T	0.16	-1.2706	11.1252	0.48315	0.2564:0.6198:0.1238:0.0	.	1851	Q2WGJ9	FR1L6_HUMAN	G	1851	ENSP00000428280:R1851G;ENSP00000381982:R1851G	ENSP00000381982:R1851G	R	+	1	2	FER1L6	125201189	0.466000	0.25823	0.999000	0.59377	0.909000	0.53808	1.271000	0.33098	1.506000	0.48736	0.655000	0.94253	CGA	-	superfamily_ABC1_TM_dom		0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	C	NM_001039112	-		125132008	1	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	SNP	0.973	G	G	125132008	C	G	125132008	3	3	112	1	0	0	0	0	1	0	0	0	5817	644	23	4	5709	4	FER1L6	8	125132008	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	772533	125132008	21232014	524	8019											
ADCY8	114	genome.wustl.edu	37	chr8	131955685	131955685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtggagaggttggtaaatCctttaacatctgcaaaaaga	10	6	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:131955685C>T	ENST00000286355.5	-	4	3357	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G422E|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	422					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTGGTAAATCCTTTAACATC	0.458										HNSCC(32;0.087)																																							0								ENSG00000155897						51	48	49					8																	131955685		2203	4300	6503	ADCY8	SO:0001583	missense	0			-	HGNC	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1265G>A	8.37:g.131955685C>T	ENSP00000286355:p.Gly422Glu	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50		Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G422E	ENST00000286355.5	37	c.1265	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.456275	0.96223	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.88046	-2.33;-2.33;-2.33	5.65	5.65	0.86999	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.95043	3.615	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96525	0.9388	10	0.87932	D	0	.	19.0765	0.93165	0.0:1.0:0.0:0.0	.	422;422	E7EVL1;P40145	.;ADCY8_HUMAN	E	422;422;37	ENSP00000286355:G422E;ENSP00000367161:G422E;ENSP00000428010:G37E	ENSP00000286355:G422E	G	-	2	0	ADCY8	132024867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.825000	0.97269	0.655000	0.94253	GGA	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	protein_coding	OTTHUMT00000380080.1	C		-		131955685	-1	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131955685	C	T	131955685	3	4	112	1	0	0	0	0	1	0	0	0	300	855	30	2	2550	2	ADCY8	8	131955685	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6823677	131955685	14408337	525	8020											
KCNV2	169522	genome.wustl.edu	37	chr9	2718153	2718153	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagccgccagctaagcctGtgcgacgactacgaggagca	13	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:2718153G>T	ENST00000382082.3	+	1	652	c.414G>T	c.(412-414)ctG>ctT	p.L138L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	138					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGCTAAGCCTGTGCGACGACT	0.642																																																	0								ENSG00000168263						17	17	17					9																	2718153		2200	4292	6492	KCNV2	SO:0001819	synonymous_variant	0			-	HGNC	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.414G>T	9.37:g.2718153G>T		Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q5T6X0	Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.L138	ENST00000382082.3	37	c.414	CCDS6447.1	9																																																																																			-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold		0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	protein_coding	OTTHUMT00000051528.1	G	NM_133497	-		2718153	1	no_errors	ENST00000382082	ensembl	human	known	74_37	silent	SNP	0.998	T	T	2718153	G	T	2718153	2	4	112	1	0	0	0	0	0	0	0	1	8097	1364	48	3		3	KCNV2	9	2718153	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		2718153	138495278	526	8021											
PTPRD	5789	genome.wustl.edu	37	chr9	8404648	8404648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaagtgaactgctggcCagggtcaattgactttaaaa	9	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:8404648C>T	ENST00000381196.4	-	33	4642	c.4099G>A	c.(4099-4101)Ggc>Agc	p.G1367S	PTPRD_ENST00000358503.5_Missense_Mutation_p.G1345S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G961S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G960S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G960S|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1354S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G957S|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1367S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1367S|PTPRD_ENST00000397611.3_Missense_Mutation_p.G957S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G960S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1367	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)		AACTGCTGGCCAGGGTCAATT	0.358										TSP Lung(15;0.13)																																							0								ENSG00000153707						126	114	118					9																	8404648		2203	4300	6503	PTPRD	SO:0001583	missense	0			-	HGNC	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.4099G>A	9.37:g.8404648C>T	ENSP00000370593:p.Gly1367Ser	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	21	46.15	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.G1367S	ENST00000381196.4	37	c.4099	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328873	0.81690	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.050859	0.85682	D	0.000000	T	0.58949	0.2158	M	0.75150	2.29	0.80722	D	1	B;B;B;B;P;B;P;D;B	0.76494	0.133;0.133;0.133;0.133;0.752;0.209;0.92;0.999;0.328	B;B;B;B;P;B;P;D;B	0.87578	0.066;0.066;0.066;0.066;0.541;0.139;0.67;0.998;0.156	T	0.54906	-0.8223	9	.	.	.	.	20.2504	0.98404	0.0:1.0:0.0:0.0	.	960;951;960;961;957;957;1354;1367;1367	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	1367;1367;1354;1345;961;960;957;957;838;1367;960;960	ENSP00000370593:G1367S;ENSP00000348812:G1367S;ENSP00000353187:G1354S;ENSP00000351293:G1345S;ENSP00000347373:G961S;ENSP00000380741:G960S;ENSP00000380735:G957S;ENSP00000440515:G957S;ENSP00000438164:G1367S;ENSP00000417093:G960S;ENSP00000380731:G960S	.	G	-	1	0	PTPRD	8394648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.850000	0.98022	0.650000	0.86243	GGC	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.358	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	C		-		8404648	-1	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8404648	C	T	8404648	3	4	112	1	0	0	0	0	1	0	0	0	12807	594	21	2	1683	2	PTPRD	9	8404648	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5686495	8404648	132808783	527	8022											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18680328	18680328	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgggaggccaccccatgGaccgcgtgctcctcctcgtg	14	15	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:18680328G>A	ENST00000380548.4	+	11	1494	c.1155G>A	c.(1153-1155)tgG>tgA	p.W385*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.W385*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.W385*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.W368*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	385	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		CCACCCCATGGACCGCGTGCT	0.612																																																	0								ENSG00000178031						40	37	38					9																	18680328		2203	4300	6503	ADAMTSL1	SO:0001587	stop_gained	0			-	HGNC	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.1155G>A	9.37:g.18680328G>A	ENSP00000369921:p.Trp385*	Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.W385*	ENST00000380548.4	37	c.1155	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.721413	0.97788	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	385;385;368;385	.	ENSP00000276935:W385X	W	+	3	0	ADAMTSL1	18670328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.765000	0.98953	2.941000	0.99782	0.655000	0.94253	TGG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.612	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	protein_coding	OTTHUMT00000401206.1	G		-		18680328	1	no_errors	ENST00000327883	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	18680328	G	A	18680328	4	1	112	1	0	0	0	0	0	1	0	0	274	1183	41	2	1197	2	ADAMTSL1	9	18680328	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10275680	18680328	122533103	528	8023											
LINGO2	158038	genome.wustl.edu	37	chr9	27949180	27949180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaatcctttcacagttaagGaggctgtgaaggtatcattc	10	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:27949180G>A	ENST00000379992.2	-	6	1939	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LINGO2_ENST00000308675.3_Missense_Mutation_p.S497F	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	497	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACAGTTAAGGAGGCTGTGAA	0.483																																																	0								ENSG00000174482						115	114	114					9																	27949180		2203	4300	6503	LINGO2	SO:0001583	missense	0			-	HGNC	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1490C>T	9.37:g.27949180G>A	ENSP00000369328:p.Ser497Phe	Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S497F	ENST00000379992.2	37	c.1490	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062846	0.55432	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.69040	-0.37;-0.37	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.16833	0.445	0.80722	D	1	P	0.40731	0.728	P	0.53988	0.739	T	0.62553	-0.6830	9	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	497	Q7L985	LIGO2_HUMAN	F	497	ENSP00000369328:S497F;ENSP00000310126:S497F	.	S	-	2	0	LINGO2	27939180	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.062000	0.89475	2.769000	0.95229	0.655000	0.94253	TCC	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.483	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	protein_coding	OTTHUMT00000051978.2	G	NM_152570	-		27949180	-1	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27949180	G	A	27949180	3	1	112	1	0	0	0	0	1	0	0	0	8817	1174	41	2	334	2	LINGO2	9	27949180	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	9268852	27949180	113264251	529	8024											
TAF1L	138474	genome.wustl.edu	37	chr9	32632221	32632221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctcaatgttctttccCatttcttcaaagtcactatc	3	11	5	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:32632221C>T	ENST00000242310.4	-	1	3446	c.3357G>A	c.(3355-3357)atG>atA	p.M1119I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1119					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGTTCTTTCCCATTTCTTCAA	0.458																																																	0								ENSG00000122728						202	165	177					9																	32632221		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3357G>A	9.37:g.32632221C>T	ENSP00000418379:p.Met1119Ile	Somatic	0	108	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	69	25.81	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.M1119I	ENST00000242310.4	37	c.3357	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417725	0.42918	.	.	ENSG00000122728	ENST00000242310	T	0.16897	2.31	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	L	0.58583	1.82	0.50632	D	0.999881	P	0.34892	0.474	B	0.32090	0.14	T	0.05699	-1.0869	10	0.59425	D	0.04	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1119	Q8IZX4	TAF1L_HUMAN	I	1119	ENSP00000418379:M1119I	ENSP00000418379:M1119I	M	-	3	0	TAF1L	32622221	1.000000	0.71417	0.805000	0.32314	0.573000	0.36030	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	ATG	-	pirsf_TAF1_animal		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	C		-		32632221	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32632221	C	T	32632221	3	4	112	1	0	0	0	0	1	0	0	0	15530	594	21	2	2127	2	TAF1L	9	32632221	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4683041	32632221	108581210	530	8025											
TAF1L	138474	genome.wustl.edu	37	chr9	32634722	32634722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcttcctgtatcagctcacGatgcttcttcctctttctcc	4	16	6	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:32634722G>A	ENST00000242310.4	-	1	945	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	286					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCAGCTCACGATGCTTCTTC	0.483																																																	0								ENSG00000122728						175	158	163					9																	32634722		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.856C>T	9.37:g.32634722G>A	ENSP00000418379:p.Arg286Cys	Somatic	0	91	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R286C	ENST00000242310.4	37	c.856	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078046	0.36662	.	.	ENSG00000122728	ENST00000242310	T	0.09445	2.98	1.04	1.04	0.20106	.	0.186546	0.46145	D	0.000313	T	0.09158	0.0226	N	0.24115	0.695	0.51012	D	0.999909	D	0.65815	0.995	P	0.48677	0.586	T	0.15752	-1.0426	10	0.62326	D	0.03	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	286	Q8IZX4	TAF1L_HUMAN	C	286	ENSP00000418379:R286C	ENSP00000418379:R286C	R	-	1	0	TAF1L	32624722	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	1.379000	0.34340	0.507000	0.28148	0.195000	0.17529	CGT	-	pirsf_TAF1_animal		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32634722	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32634722	G	A	32634722	3	1	112	1	0	0	0	0	1	0	0	0	15530	1058	37	1	4628	1	TAF1L	9	32634722	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2501	32634722	108578709	531	8026											
TAF1L	138474	genome.wustl.edu	37	chr9	32634836	32634836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgaaattctggaaaaagttCggtgacacttggcaacagct	10	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:32634836C>T	ENST00000242310.4	-	1	831	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	248					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAAAGTTCGGTGACACTT	0.488																																																	0								ENSG00000122728						134	123	127					9																	32634836		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.742G>A	9.37:g.32634836C>T	ENSP00000418379:p.Glu248Lys	Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	41	45.33	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E248K	ENST00000242310.4	37	c.742	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742382	0.49151	.	.	ENSG00000122728	ENST00000242310	T	0.08984	3.03	1.04	1.04	0.20106	.	0.049823	0.85682	D	0.000000	T	0.07369	0.0186	M	0.66297	2.02	0.40397	D	0.979615	P	0.37612	0.602	B	0.25614	0.062	T	0.26224	-1.0109	10	0.44086	T	0.13	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	248	Q8IZX4	TAF1L_HUMAN	K	248	ENSP00000418379:E248K	ENSP00000418379:E248K	E	-	1	0	TAF1L	32624836	0.989000	0.36119	0.984000	0.44739	0.571000	0.35966	2.391000	0.44424	0.507000	0.28148	0.195000	0.17529	GAA	-	pirsf_TAF1_animal		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	C		-		32634836	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32634836	C	T	32634836	3	4	112	1	0	0	0	0	1	0	0	0	15530	893	31	1	4742	1	TAF1L	9	32634836	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	114	32634836	108578595	532	8027											
KIAA1539	80256	genome.wustl.edu	37	chr9	35107786	35107786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtccccctggatctggGgaggcccagtctctggtgtg	14	14	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35107786G>A	ENST00000378561.1	-	2	3541	c.486C>T	c.(484-486)tcC>tcT	p.S162S	FAM214B_ENST00000488109.2_Silent_p.S162S|FAM214B_ENST00000605244.1_Silent_p.S162S|FAM214B_ENST00000378554.2_Silent_p.S162S|FAM214B_ENST00000603301.1_Silent_p.S162S|FAM214B_ENST00000378557.1_Silent_p.S162S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Silent_p.S162S|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	162						nucleus (GO:0005634)											CTGGATCTGGGGAGGCCCAGT	0.607																																																	0								ENSG00000005238						34	42	39					9																	35107786		2191	4300	6491	FAM214B	SO:0001819	synonymous_variant	0			-	HGNC	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.486C>T	9.37:g.35107786G>A		Somatic	0	118	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	94	72	56.63	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP							NULL	p.S162	ENST00000378561.1	37	c.486	CCDS6578.1	9																																																																																			-	NULL		0.607	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	protein_coding	OTTHUMT00000052261.1	G	NM_025182	-		35107786	-1	no_errors	ENST00000322813	ensembl	human	known	74_37	silent	SNP	1.000	A	A	35107786	G	A	35107786	2	1	112	1	0	0	0	0	0	0	0	1	8244	1219	43	2		2	KIAA1539	9	35107786	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2472950	35107786	106105645	533	8028											
SIT1	27240	genome.wustl.edu	37	chr9	35650022	35650022	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggttccaggaccggggatCcgaccctgaggaggccgcag	18	12	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35650022C>T	ENST00000259608.3	-	5	500	c.414G>A	c.(412-414)cgG>cgA	p.R138R	RP11-331F9.4_ENST00000428948.1_RNA|SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	138					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACCGGGGATCCGACCCTGAG	0.622																																																	0								ENSG00000137078						16	16	16					9																	35650022		2201	4296	6497	SIT1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"SHP2 interacting transmembrane adaptor"	604964	"suppression inducing transmembrane adaptor 1"			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.414G>A	9.37:g.35650022C>T		Somatic	0	177	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	180	22.08	B2RBP9	Silent	SNP							NULL	p.R138	ENST00000259608.3	37	c.414	CCDS6582.1	9																																																																																			-	NULL		0.622	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIT1	protein_coding	OTTHUMT00000052322.1	C	NM_014450	-		35650022	-1	no_errors	ENST00000259608	ensembl	human	known	74_37	silent	SNP	0.004	T	T	35650022	C	T	35650022	2	4	112	1	0	0	0	0	0	0	0	1	14352	842	30	2		2	SIT1	9	35650022	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	542236	35650022	105563409	534	8029											
CA9	768	genome.wustl.edu	37	chr9	35680961	35680961	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcctgttgtgtacacacaGaaggggaaccaaagggggtg	14	7	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35680961G>A	ENST00000378357.4	+	11	1423		c.e11-1		CA9_ENST00000493245.1_Splice_Site	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGTACACACAGAAGGGGAACC	0.557																																																	0								ENSG00000107159						84	92	89					9																	35680961		2203	4300	6503	CA9	SO:0001630	splice_region_variant	0			-	HGNC	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1320-1G>A	9.37:g.35680961G>A		Somatic	0	110	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	166	10.27	Q5T4R1	Splice_Site	SNP							-	e11-1	ENST00000378357.4	37	c.1320-1	CCDS6585.1	9	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192615	0.21954	.	.	ENSG00000107159	ENST00000378357	.	.	.	5.44	-0.48	0.12085	.	.	.	.	.	.	.	.	.	.	.	0.21184	N	0.999762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0009	0.03467	0.1087:0.2608:0.308:0.3226	.	.	.	.	.	-1	.	.	.	+	.	.	CA9	35670961	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.108000	0.10857	-0.304000	0.08843	0.591000	0.81541	.	-	-		0.557	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	protein_coding	OTTHUMT00000055479.1	G	NM_001216	-	Intron	35680961	1	no_errors	ENST00000378357	ensembl	human	known	74_37	splice_site	SNP	0.000	A	A	35680961	G	A	35680961	5	1	112	1	0	0	0	0	0	0	1	0	2526	956	33	2	1361	2	CA9	9	35680961	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	30939	35680961	105532470	535	8030											
RGP1	57704	genome.wustl.edu	37	chr9	35749252	35749252	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcgcttccggccggaaGggactccgcggagggtgggg	21	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35749252G>A	ENST00000378103.3	-	0	0				GBA2_ENST00000545786.1_Intron|RGP1_ENST00000456972.2_Missense_Mutation_p.R17K|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000378078.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCCGGAAGGGACTCCGCG	0.766																																																	0								ENSG00000107185						5	7	7					9																	35749252		1707	3879	5586	RGP1	SO:0001631	upstream_gene_variant	0			-	HGNC	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749252G>A	Exception_encountered	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	30	64.71	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP							pfam_Rgp1	p.R17K	ENST00000378103.3	37	c.50	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.230289	0.95207	.	.	ENSG00000107185	ENST00000456972	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.22305	N	0.999216	.	.	.	.	.	.	T	0.54629	-0.8265	5	0.87932	D	0	.	15.243	0.73485	0.0:0.0:1.0:0.0	.	.	.	.	K	17	.	ENSP00000409466:R17K	R	+	2	0	RGP1	35739252	0.321000	0.24625	0.998000	0.56505	0.906000	0.53458	0.430000	0.21428	2.640000	0.89533	0.491000	0.48974	AGG	-	NULL		0.766	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	protein_coding	OTTHUMT00000055456.1	G	NM_020944	-		35749252	1	no_errors	ENST00000456972	ensembl	human	known	74_37	missense	SNP	0.994	A	A	35749252	G	A	35749252	1	1	112	0	1	0	0	0	0	0	0	0	13292	1000	35	2		2	RGP1	9	35749252	5'Flank	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	68291	35749252	105464179	536	8031											
MAMDC2	256691	genome.wustl.edu	37	chr9	72659550	72659550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgctgggtcctgtgcctttGaagagagcacttgcggcttt	13	11	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:72659550G>A	ENST00000377182.4	+	2	702	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	29	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGTGCCTTTGAAGAGAGCAC	0.607																																																	0								ENSG00000165072						56	50	52					9																	72659550		2066	3975	6041	MAMDC2	SO:0001583	missense	0			-	HGNC	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.85G>A	9.37:g.72659550G>A	ENSP00000366387:p.Glu29Lys	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	25	61.54	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP							pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.E29K	ENST00000377182.4	37	c.85	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.299564	0.95574	.	.	ENSG00000165072	ENST00000377182	T	0.04194	3.68	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.81682	2.555	0.58432	D	0.999992	D	0.67145	0.996	D	0.68943	0.961	T	0.00158	-1.1975	10	0.72032	D	0.01	-23.2194	16.5306	0.84357	0.0:0.0:1.0:0.0	.	29	Q7Z304	MAMC2_HUMAN	K	29	ENSP00000366387:E29K	ENSP00000366387:E29K	E	+	1	0	MAMDC2	71849370	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	5.444000	0.66587	2.631000	0.89168	0.561000	0.74099	GAA	-	superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.607	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	protein_coding	OTTHUMT00000052600.1	G	NM_153267	-		72659550	1	no_errors	ENST00000377182	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72659550	G	A	72659550	3	1	112	1	0	0	0	0	1	0	0	0	9205	1291	45	2	91	2	MAMDC2	9	72659550	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	36910298	72659550	68553881	537	8032											
TRPM3	80036	genome.wustl.edu	37	chr9	73376619	73376619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtcaccaacagctggtcCctcaaagattcatttatcag	6	11	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:73376619C>T	ENST00000377111.2	-	8	1413	c.1170G>A	c.(1168-1170)agG>agA	p.R390R	TRPM3_ENST00000396280.5_Silent_p.R237R|TRPM3_ENST00000408909.2_Silent_p.R237R|TRPM3_ENST00000423814.3_Silent_p.R417R|TRPM3_ENST00000377101.1_Silent_p.R237R|TRPM3_ENST00000377106.1_Silent_p.R262R|TRPM3_ENST00000377110.3_Silent_p.R390R|TRPM3_ENST00000377105.1_Silent_p.R237R|TRPM3_ENST00000396292.4_Silent_p.R262R|TRPM3_ENST00000360823.2_Silent_p.R262R|TRPM3_ENST00000357533.2_Silent_p.R392R|TRPM3_ENST00000358082.3_Silent_p.R262R|TRPM3_ENST00000396285.1_Silent_p.R237R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	415					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						ACAGCTGGTCCCTCAAAGATT	0.408																																																	0								ENSG00000083067						125	107	113					9																	73376619		2203	4300	6503	TRPM3	SO:0001819	synonymous_variant	0			-	HGNC	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.1170G>A	9.37:g.73376619C>T		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	17	73.85	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP							pfam_Ion_trans_dom	p.R417	ENST00000377111.2	37	c.1251		9	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411597	0.25465	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	5.28	0.74379	.	.	.	.	.	T	0.72503	0.3468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72283	-0.4339	4	.	.	.	-27.5698	15.8705	0.79117	0.0:0.9354:0.0:0.0646	.	.	.	.	R	237	.	.	G	-	1	0	TRPM3	72566439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.919000	0.40015	1.631000	0.50456	0.655000	0.94253	GGA	-	NULL		0.408	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	C	NM_206945	-		73376619	-1	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	SNP	1.000	T	T	73376619	C	T	73376619	2	4	112	1	0	0	0	0	0	0	0	1	16594	622	22	2		2	TRPM3	9	73376619	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	717069	73376619	67836812	538	8033											
RASEF	158158	genome.wustl.edu	37	chr9	85597673	85597673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatggatctgctgtcatcCttgtcagttctctttttcac	7	10	5	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:85597673C>T	ENST00000376447.3	-	17	2402	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	714					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGCTGTCATCCTTGTCAGTTC	0.428																																																	0								ENSG00000165105						344	314	324					9																	85597673		2203	4300	6503	RASEF	SO:0001819	synonymous_variant	0			-	HGNC	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2142G>A	9.37:g.85597673C>T		Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	23	54.90	A6NC29|Q96N04	Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.K714	ENST00000376447.3	37	c.2142	CCDS6662.1	9																																																																																			-	smart_Ran_GTPase		0.428	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	protein_coding	OTTHUMT00000052825.1	C	NM_152573	-		85597673	-1	no_errors	ENST00000376447	ensembl	human	known	74_37	silent	SNP	0.982	T	T	85597673	C	T	85597673	2	4	112	1	0	0	0	0	0	0	0	1	13076	680	24	2		2	RASEF	9	85597673	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12221054	85597673	55615758	539	8034											
FAM75C1	441452	genome.wustl.edu	37	chr9	90535838	90535838	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccatctggggcctgagtCccaaccctttatttcatcca	7	15	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:90535838C>T	ENST00000602681.1	+	0	1742							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCCTGAGTCCCAACCCTTT	0.567																																																	0								ENSG00000230246						75	71	72					9																	90535838		692	1590	2282	SPATA31C1			0			-	HGNC	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535838C>T		Somatic	0	250	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	61	59.33		RNA	SNP							-	NULL	ENST00000602681.1	37	NULL		9																																																																																			-	-		0.567	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	pseudogene	OTTHUMT00000467313.1	C	NM_001145124	-		90535838	1	no_errors	ENST00000602681	ensembl	human	known	74_37	rna	SNP	0.025	T	T	90535838	C	T	90535838	1	4	112	0	1	0	0	0	0	0	0	0	5625	855	30	2		2	FAM75C1	9	90535838	RNA	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4938165	90535838	50677593	540	8035											
BICD2	23299	genome.wustl.edu	37	chr9	95480170	95480170	+	Frame_Shift_Del	DEL	T	T	-													cagcttcatcatggtctcggTaaccatggccttctcattct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:95480170delT	ENST00000375512.3	-	6	2234	c.2167delA	c.(2167-2169)accfs	p.T723fs	BICD2_ENST00000356884.6_Frame_Shift_Del_p.T723fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	723	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGGTCTCGGTAACCATGGCC	0.567																																																	0								ENSG00000185963						224	160	182					9																	95480170		2203	4300	6503	BICD2	SO:0001589	frameshift_variant	0				HGNC	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2167delA	9.37:g.95480170delT	ENSP00000364662:p.Thr723fs	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	16	54.29	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Del	DEL							pfam_Bicaudal-D_microtubule-assoc	p.T723fs	ENST00000375512.3	37	c.2167	CCDS6700.1	9																																																																																			-	pfam_Bicaudal-D_microtubule-assoc		0.567	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	protein_coding	OTTHUMT00000055508.1	T	NM_015250			95480170	-1	no_errors	ENST00000356884	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	95480170	T	-	95480170	7	5	112	1	0	1	0	1	0	0	0	0	1429	1638	57	0	418	0	BICD2	9	95480170	Frame_Shift_Del	DEL	T	TCGA-DX-AB2E-01A-11D-A38Z-09	4944332	95480170	45733261	541	8036											
PPP3R2	116443	genome.wustl.edu	37	chr9	104356751	104356751	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccacagcactgaattcCtcaaaggatatcttcccatc	5	14	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:104356751C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.E154E	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACTGAATTCCTCAAAGGATA	0.507																																																	0								ENSG00000188386						121	102	108					9																	104356751		2203	4300	6503	PPP3R2	SO:0001627	intron_variant	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15109G>A	9.37:g.104356751C>T		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	19	63.46	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E154	ENST00000361820.3	37	c.462	CCDS6758.1	9																																																																																			-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	protein_coding	OTTHUMT00000053453.1	C		-		104356751	-1	no_errors	ENST00000374806	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104356751	C	T	104356751	1	4	112	0	1	0	0	0	0	0	0	0	12406	680	24	2		2	PPP3R2	9	104356751	Intron	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	8876581	104356751	36856680	542	8037											
CYLC2	1539	genome.wustl.edu	37	chr9	105767566	105767566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtacagagaaagatagcaAaaaaggtaaaaaggattcaa	10	3	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:105767566A>G	ENST00000374798.3	+	5	723	c.653A>G	c.(652-654)aAa>aGa	p.K218R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K218R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	218	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGATAGCAAAAAAGGTAAA	0.358																																																	0								ENSG00000155833						80	77	78					9																	105767566		2203	4300	6503	CYLC2	SO:0001583	missense	0			-	HGNC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.653A>G	9.37:g.105767566A>G	ENSP00000420256:p.Lys218Arg	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	25	54.55	B2R8F4|Q5VVJ9	Missense_Mutation	SNP							NULL	p.K218R	ENST00000374798.3	37	c.653	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844517	0.32606	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.18810	2.19;2.19	4.6	3.45	0.39498	.	0.640832	0.13224	N	0.404126	T	0.25754	0.0627	M	0.74647	2.275	0.09310	N	1	P	0.40731	0.728	B	0.39217	0.294	T	0.14671	-1.0464	10	0.66056	D	0.02	-0.3806	8.58	0.33623	0.9073:0.0:0.0927:0.0	.	218	Q14093	CYLC2_HUMAN	R	218	ENSP00000420256:K218R;ENSP00000417674:K218R	ENSP00000420256:K218R	K	+	2	0	CYLC2	104807387	0.037000	0.19845	0.001000	0.08648	0.002000	0.02628	2.119000	0.41958	0.895000	0.36342	0.477000	0.44152	AAA	-	NULL		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	A	NM_001340	-		105767566	1	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	SNP	0.002	G	G	105767566	A	G	105767566	3	3	112	1	0	0	0	0	1	0	0	0	4144	14	1	5	671	5	CYLC2	9	105767566	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1410815	105767566	35445865	543	8038											
KIAA0368	23392	genome.wustl.edu	37	chr9	114182297	114182297	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaccttttgaaacttacGgatctcctgcagccagtagc	7	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:114182297G>A	ENST00000338205.5	-	15	1778	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	KIAA0368_ENST00000259335.4_Splice_Site_p.P698L			Q5VYK3	ECM29_HUMAN	KIAA0368	526					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGAAACTTACGGATCTCCTGC	0.343																																																	0								ENSG00000136813						80	74	76					9																	114182297		1838	4092	5930	KIAA0368	SO:0001630	splice_region_variant	0			-	HGNC	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1559+1C>T	9.37:g.114182297G>A		Somatic	0	176	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	59	56.30	O15074|Q8WU82	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P698L	ENST00000338205.5	37	c.2093		9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550702	0.86127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.67865	-0.29	5.46	5.46	0.80206	Armadillo-type fold (1);	0.057033	0.64402	D	0.000001	T	0.62097	0.2400	L	0.60455	1.87	0.80722	D	1	D	0.53745	0.962	B	0.36719	0.231	T	0.66304	-0.5957	9	.	.	.	-11.8019	19.3174	0.94220	0.0:0.0:1.0:0.0	.	526	Q5VYK3	ECM29_HUMAN	L	520;698	ENSP00000259335:P698L	.	P	-	2	0	KIAA0368	113222118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.397000	0.97276	2.569000	0.86673	0.650000	0.86243	CCA	-	superfamily_ARM-type_fold		0.343	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	protein_coding	OTTHUMT00000053637.2	G	NM_014686	-	Missense_Mutation	114182297	-1	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114182297	G	A	114182297	5	1	112	1	0	0	0	0	0	0	1	0	8173	1130	39	1	4100	1	KIAA0368	9	114182297	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8414731	114182297	27031134	544	8039											
SUSD1	64420	genome.wustl.edu	37	chr9	114804167	114804167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaccgctgagaaggagagGaatgtgagaatgatcacaac	12	8	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:114804167G>A	ENST00000374270.3	-	16	2395	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	SUSD1_ENST00000374264.2_3'UTR|SUSD1_ENST00000374263.3_3'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	741						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAAGGAGAGGAATGTGAGAA	0.527																																																	0								ENSG00000106868						171	150	157					9																	114804167		2203	4300	6503	SUSD1	SO:0001819	synonymous_variant	0			-	HGNC	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.2223C>T	9.37:g.114804167G>A		Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	5	70.59	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.F741	ENST00000374270.3	37	c.2223	CCDS6783.1	9																																																																																			-	NULL		0.527	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	protein_coding	OTTHUMT00000053668.3	G	NM_022486	-		114804167	-1	no_errors	ENST00000374270	ensembl	human	known	74_37	silent	SNP	0.989	A	A	114804167	G	A	114804167	2	1	112	1	0	0	0	0	0	0	0	1	15414	1165	41	2		2	SUSD1	9	114804167	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	621870	114804167	26409264	545	8040											
DFNB31	25861	genome.wustl.edu	37	chr9	117168795	117168795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactgtggcctctgcagaGgggcttttcaggtgcggggg	18	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:117168795G>A	ENST00000362057.3	-	9	2244	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	DFNB31_ENST00000374059.3_Silent_p.P341P|DFNB31_ENST00000265134.6_Silent_p.P309P	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	692	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCTGCAGAGGGGCTTTTCA	0.657																																																	0								ENSG00000095397						44	51	48					9																	117168795		2202	4300	6502	DFNB31	SO:0001819	synonymous_variant	0			-	HGNC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2076C>T	9.37:g.117168795G>A		Somatic	0	114	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	21	80.00	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P692	ENST00000362057.3	37	c.2076	CCDS6806.1	9																																																																																			-	NULL		0.657	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	G	NM_015404	-		117168795	-1	no_errors	ENST00000362057	ensembl	human	known	74_37	silent	SNP	0.314	A	A	117168795	G	A	117168795	2	1	112	1	0	0	0	0	0	0	0	1	4457	987	35	2		2	DFNB31	9	117168795	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2364628	117168795	24044636	546	8041											
DFNB31	25861	genome.wustl.edu	37	chr9	117168927	117168927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacggaggcatagatgggGgaagagggcaagtcctgtgc	19	6	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:117168927G>A	ENST00000362057.3	-	9	2112	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	DFNB31_ENST00000374059.3_Silent_p.S297S|DFNB31_ENST00000265134.6_Silent_p.S265S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	648	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAGATGGGGGAAGAGGGCA	0.682																																																	0								ENSG00000095397						57	60	59					9																	117168927		2203	4300	6503	DFNB31	SO:0001819	synonymous_variant	0			-	HGNC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1944C>T	9.37:g.117168927G>A		Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	17	74.63	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S648	ENST00000362057.3	37	c.1944	CCDS6806.1	9																																																																																			-	NULL		0.682	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	G	NM_015404	-		117168927	-1	no_errors	ENST00000362057	ensembl	human	known	74_37	silent	SNP	1.000	A	A	117168927	G	A	117168927	2	1	112	1	0	0	0	0	0	0	0	1	4457	1219	43	2		2	DFNB31	9	117168927	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	132	117168927	24044504	547	8042											
PAPPA	5069	genome.wustl.edu	37	chr9	118997664	118997664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcagtgggaagaacatctCcctgggtcctcagaatgtct	11	10	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:118997664C>T	ENST00000328252.3	+	7	2849	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	827					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGAACATCTCCCTGGGTCCT	0.522																																																	0								ENSG00000182752						86	69	75					9																	118997664		2203	4300	6503	PAPPA	SO:0001583	missense	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2480C>T	9.37:g.118997664C>T	ENSP00000330658:p.Ser827Phe	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	5	73.68	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S827F	ENST00000328252.3	37	c.2480	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957583	0.92726	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02103	4.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00009	-1.2462	10	0.59425	D	0.04	-25.7166	20.5948	0.99439	0.0:1.0:0.0:0.0	.	271;827	E7EMD3;Q13219	.;PAPP1_HUMAN	F	827;271	ENSP00000330658:S827F	ENSP00000330658:S827F	S	+	2	0	PAPPA	118037485	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	5.737000	0.68606	2.873000	0.98535	0.563000	0.77884	TCC	-	superfamily_Fibronectin_type3		0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	C	NM_002581	-		118997664	1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118997664	C	T	118997664	3	4	112	1	0	0	0	0	1	0	0	0	11434	855	30	2	2506	2	PAPPA	9	118997664	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1828737	118997664	22215767	548	8043											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123165309	123165309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccactgtcgcaggagagGgagtccgtgtcattcccaga	13	12	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:123165309G>A	ENST00000349780.4	-	34	5261	c.5082C>T	c.(5080-5082)tcC>tcT	p.S1694S	CDK5RAP2_ENST00000359309.3_Silent_p.S1653S|CDK5RAP2_ENST00000360822.3_Silent_p.S1662S|CDK5RAP2_ENST00000360190.4_Silent_p.S1615S|CDK5RAP2_ENST00000480467.1_5'UTR	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1694					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CGCAGGAGAGGGAGTCCGTGT	0.547																																																	0								ENSG00000136861						80	80	80					9																	123165309		2203	4300	6503	CDK5RAP2	SO:0001819	synonymous_variant	0			-	HGNC	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5082C>T	9.37:g.123165309G>A		Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	17	63.04	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP							pfam_Spindle_assoc	p.S1694	ENST00000349780.4	37	c.5082	CCDS6823.1	9																																																																																			-	NULL		0.547	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	protein_coding	OTTHUMT00000055535.1	G	NM_018249	-		123165309	-1	no_errors	ENST00000349780	ensembl	human	known	74_37	silent	SNP	0.984	A	A	123165309	G	A	123165309	2	1	112	1	0	0	0	0	0	0	0	1	3148	1219	43	2		2	CDK5RAP2	9	123165309	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4167645	123165309	18048122	549	8044											
FIBCD1	84929	genome.wustl.edu	37	chr9	133779526	133779526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagccggtccaggaggaCcactccacgccgtcggcata	12	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:133779526C>T	ENST00000372338.4	-	7	1553	c.1311G>A	c.(1309-1311)tgG>tgA	p.W437*	FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.W437*|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.W279*|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	437	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TCCAGGAGGACCACTCCACGC	0.637																																																	0								ENSG00000130720						90	82	85					9																	133779526		2203	4300	6503	FIBCD1	SO:0001587	stop_gained	0			-	HGNC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1311G>A	9.37:g.133779526C>T	ENSP00000361413:p.Trp437*	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	17	70.18	A3KFK0|Q6UXK6|Q96SJ7	Nonsense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.W437*	ENST00000372338.4	37	c.1311	CCDS6937.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.391252	0.97529	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	.	.	.	4.78	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7534	0.51862	0.0:0.9127:0.0:0.0873	.	.	.	.	X	437;437;279	.	ENSP00000361412:W279X	W	-	3	0	FIBCD1	132769347	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.995000	0.70631	1.007000	0.39238	0.455000	0.32223	TGG	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.637	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	protein_coding	OTTHUMT00000054687.2	C	NM_032843	-		133779526	-1	no_errors	ENST00000372338	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	133779526	C	T	133779526	4	4	112	1	0	0	0	0	0	1	0	0	5886	508	18	2	78	2	FIBCD1	9	133779526	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10614217	133779526	7433905	550	8045											
FCN2	2220	genome.wustl.edu	37	chr9	137779172	137779172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacctcagggggactcatGgcagctttgcaaatggcatc	12	11	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:137779172G>A	ENST00000291744.6	+	8	863	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	FCN2_ENST00000350339.2_Missense_Mutation_p.G247S	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	285	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGGACTCATGGCAGCTTTGC	0.507																																																	0								ENSG00000160339						88	86	87					9																	137779172		2203	4300	6503	FCN2	SO:0001583	missense	0			-	HGNC	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.853G>A	9.37:g.137779172G>A	ENSP00000291744:p.Gly285Ser	Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	17	65.31	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G285S	ENST00000291744.6	37	c.853	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746596	0.03065	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.76060	-0.99;-0.99	4.05	-2.48	0.06423	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	2.657640	0.01745	N	0.029615	T	0.40694	0.1127	N	0.02142	-0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.14023	0.002;0.01	T	0.51332	-0.8719	10	0.02654	T	1	.	2.1798	0.03871	0.2024:0.4291:0.2215:0.147	.	247;285	Q15485-2;Q15485	.;FCN2_HUMAN	S	247;285	ENSP00000291741:G247S;ENSP00000291744:G285S	ENSP00000291744:G285S	G	+	1	0	FCN2	136918993	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.217000	0.17603	-0.524000	0.06400	0.563000	0.77884	GGC	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.507	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	protein_coding	OTTHUMT00000054960.1	G	NM_004108	-		137779172	1	no_errors	ENST00000291744	ensembl	human	known	74_37	missense	SNP	0.000	A	A	137779172	G	A	137779172	3	1	112	1	0	0	0	0	1	0	0	0	5794	1348	47	2	883	2	FCN2	9	137779172	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3999646	137779172	3434259	551	8046											
LCN15	389812	genome.wustl.edu	37	chr9	139658890	139658890	+	Silent	SNP	C	C	A													agcagaacctcagcctgagcCgtgggcgcccagagcagggt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139658890C>A	ENST00000316144.5	-	1	75	c.51G>T	c.(49-51)acG>acT	p.T17T	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	17					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						CAGCCTGAGCCGTGGGCGCCC	0.657																																																	0								ENSG00000177984						53	47	49					9																	139658890		2203	4299	6502	LCN15	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.51G>T	9.37:g.139658890C>A		Somatic	0	29	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	10	62.96		Silent	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.T17	ENST00000316144.5	37	c.51	CCDS7006.1	9																																																																																			-	NULL		0.657	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	protein_coding	OTTHUMT00000055114.2	C	NM_203347	-		139658890	-1	no_errors	ENST00000316144	ensembl	human	known	74_37	silent	SNP	0.000	A	A	139658890	C	A	139658890	2	1	112	1	0	0	0	0	0	0	0	1	8685	639	23	3		3	LCN15	9	139658890	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1879718	139658890	1554541	552	8047	119	2									
LCN15	389812	genome.wustl.edu	37	chr9	139658892	139658892	+	Frame_Shift_Del	DEL	T	T	-													cagaacctcagcctgagccgTgggcgcccagagcagggtca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139658892delT	ENST00000316144.5	-	1	73	c.49delA	c.(49-51)acgfs	p.T17fs	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	17					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GCCTGAGCCGTGGGCGCCCAG	0.662																																																	0								ENSG00000177984						54	47	49					9																	139658892		2203	4299	6502	LCN15	SO:0001589	frameshift_variant	0				HGNC		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.49delA	9.37:g.139658892delT	ENSP00000313833:p.Thr17fs	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57		Frame_Shift_Del	DEL							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.T17fs	ENST00000316144.5	37	c.49	CCDS7006.1	9																																																																																			-	NULL		0.662	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	protein_coding	OTTHUMT00000055114.2	T	NM_203347			139658892	-1	no_errors	ENST00000316144	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	139658892	T	-	139658892	7	5	112	1	0	1	0	1	0	0	0	0	8685	1696	59	0	529	0	LCN15	9	139658892	Frame_Shift_Del	DEL	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2	139658892	1554539	553	8048	119	2									
EDF1	8721	genome.wustl.edu	37	chr9	139758280	139758280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagtacctacatttcttgGaagtctccacatcttctcct	4	13	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139758280G>A	ENST00000224073.1	-	2	149	c.122C>T	c.(121-123)tCc>tTc	p.S41F	EDF1_ENST00000371648.4_Missense_Mutation_p.S41F|EDF1_ENST00000371649.1_Missense_Mutation_p.S41F	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	41	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACATTTCTTGGAAGTCTCCAC	0.507																																																	0								ENSG00000107223						257	215	229					9																	139758280		2203	4300	6503	EDF1	SO:0001583	missense	0			-	HGNC	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.122C>T	9.37:g.139758280G>A	ENSP00000224073:p.Ser41Phe	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	16	60.00	Q5T5T2|Q9UIM1	Missense_Mutation	SNP							pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH	p.S41F	ENST00000224073.1	37	c.122	CCDS7011.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101331	0.76983	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.44	4.53	0.55603	Multiprotein bridging factor 1, N-terminal (1);	0.056500	0.64402	D	0.000001	T	0.70692	0.3253	L	0.54323	1.7	0.58432	D	0.999998	P;P	0.41978	0.725;0.767	P;P	0.53266	0.712;0.722	T	0.72988	-0.4124	9	0.59425	D	0.04	-15.2268	15.7262	0.77763	0.0:0.1373:0.8627:0.0	.	41;41	O60869-2;O60869	.;EDF1_HUMAN	F	41	.	ENSP00000224073:S41F	S	-	2	0	EDF1	138878101	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	6.868000	0.75516	1.246000	0.43901	0.655000	0.94253	TCC	-	pfam_MBF1_N		0.507	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	protein_coding	OTTHUMT00000055143.1	G		-		139758280	-1	no_errors	ENST00000224073	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139758280	G	A	139758280	3	1	112	1	0	0	0	0	1	0	0	0	4916	1174	41	2	375	2	EDF1	9	139758280	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	99388	139758280	1455151	554	8049											
PITRM1	10531	genome.wustl.edu	37	chr10	3180243	3180243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattggatgatccaggatgGgtccttggcaattttcgggt	13	7	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:3180243G>A	ENST00000224949.4	-	27	3128	c.3094C>T	c.(3094-3096)Cca>Tca	p.P1032S	PITRM1_ENST00000451104.2_Missense_Mutation_p.P934S|PITRM1_ENST00000380989.2_Missense_Mutation_p.P1033S|PITRM1_ENST00000380994.1_Missense_Mutation_p.P590S|PITRM1_ENST00000464395.1_5'UTR			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1032					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCCAGGATGGGTCCTTGGCA	0.572																																																	0								ENSG00000107959						56	59	58					10																	3180243		2057	4194	6251	PITRM1	SO:0001583	missense	0			-	HGNC	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3094C>T	10.37:g.3180243G>A	ENSP00000224949:p.Pro1032Ser	Somatic	0	21	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP							pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.P1033S	ENST00000224949.4	37	c.3097	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	g	14.01	2.408912	0.42715	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.83	4.93	0.64822	.	0.046469	0.85682	N	0.000000	T	0.53270	0.1786	L	0.35854	1.095	0.58432	D	0.999992	B;P;B	0.37663	0.409;0.604;0.335	B;B;B	0.35688	0.082;0.135;0.208	T	0.49560	-0.8927	10	0.12103	T	0.63	-27.1478	13.2844	0.60235	0.0732:0.0:0.9268:0.0	.	934;1032;967	E7ES23;Q5JRX3;E9PDX7	.;PREP_HUMAN;.	S	1032;1025;1033;590;934	ENSP00000224949:P1032S;ENSP00000370377:P1033S;ENSP00000370382:P590S;ENSP00000401201:P934S	ENSP00000224949:P1032S	P	-	1	0	PITRM1	3170243	1.000000	0.71417	0.871000	0.34182	0.004000	0.04260	7.838000	0.86804	1.475000	0.48197	-0.258000	0.10820	CCA	-	NULL		0.572	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	protein_coding	OTTHUMT00000046469.2	G		-		3180243	-1	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3180243	G	A	3180243	3	1	112	1	0	0	0	0	1	0	0	0	11955	1232	43	2	23	2	PITRM1	10	3180243	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		3180243	132354504	555	8050											
ITIH2	3698	genome.wustl.edu	37	chr10	7759616	7759616	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctcttgatatggaaaacttCagaacggaagtaaatgtcct	9	7	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:7759616C>A	ENST00000358415.4	+	6	661	c.495C>A	c.(493-495)ttC>ttA	p.F165L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F154L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	165	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				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						TGGAAAACTTCAGAACGGAAG	0.493																																																	0								ENSG00000151655						165	172	169					10																	7759616		2203	4300	6503	ITIH2	SO:0001583	missense	0			-	HGNC	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.495C>A	10.37:g.7759616C>A	ENSP00000351190:p.Phe165Leu	Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	59	37.89	Q14659|Q15484|Q5T986	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F165L	ENST00000358415.4	37	c.495	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636337	0.47049	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.58210	0.35;0.35;0.35	5.25	3.39	0.38822	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.86864	2.845	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.74839	-0.3528	10	0.87932	D	0	-22.5611	8.5713	0.33572	0.0:0.7674:0.0:0.2326	.	165	P19823	ITIH2_HUMAN	L	165;140;154	ENSP00000351190:F165L;ENSP00000388826:F140L;ENSP00000368906:F154L	ENSP00000351190:F165L	F	+	3	2	ITIH2	7799622	0.997000	0.39634	0.993000	0.49108	0.058000	0.15608	0.538000	0.23160	1.194000	0.43101	0.563000	0.77884	TTC	-	pfam_VIT,smart_VIT		0.493	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	protein_coding	OTTHUMT00000046678.2	C	NM_002216	-		7759616	1	no_errors	ENST00000358415	ensembl	human	known	74_37	missense	SNP	0.998	A	A	7759616	C	A	7759616	3	1	112	1	0	0	0	0	1	0	0	0	7906	825	29	3	517	3	ITIH2	10	7759616	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4579373	7759616	127775131	556	8051											
DHTKD1	55526	genome.wustl.edu	37	chr10	12130993	12130993	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatccacaatagctgatgttCcgtaaaatgcgaggcttaag	9	8	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:12130993C>T	ENST00000263035.4	+	5	788	c.726C>T	c.(724-726)ttC>ttT	p.F242F	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	242					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)			AGCTGATGTTCCGTAAAATGC	0.438																																																	0								ENSG00000181192						118	108	112					10																	12130993		2203	4300	6503	DHTKD1	SO:0001819	synonymous_variant	0			-	HGNC	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.726C>T	10.37:g.12130993C>T		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	48	28.36	Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP							pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.F242	ENST00000263035.4	37	c.726	CCDS7087.1	10																																																																																			-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.438	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	protein_coding	OTTHUMT00000046777.1	C	NM_018706	-		12130993	1	no_errors	ENST00000263035	ensembl	human	known	74_37	silent	SNP	1.000	T	T	12130993	C	T	12130993	2	4	112	1	0	0	0	0	0	0	0	1	4502	854	30	2		2	DHTKD1	10	12130993	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4371377	12130993	123403754	557	8052											
MCM10	55388	genome.wustl.edu	37	chr10	13230981	13230981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctggaggacgaattcCaaagaagtttgcccgcagag	11	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:13230981C>T	ENST00000484800.2	+	10	1422	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L	MCM10_ENST00000378714.3_Missense_Mutation_p.P439L|MCM10_ENST00000378694.1_Missense_Mutation_p.P439L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	440					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						GGACGAATTCCAAAGAAGTTT	0.532																																																	0								ENSG00000065328						124	121	122					10																	13230981		2203	4300	6503	MCM10	SO:0001583	missense	0			-	HGNC	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.1319C>T	10.37:g.13230981C>T	ENSP00000418268:p.Pro440Leu	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP							pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.P440L	ENST00000484800.2	37	c.1319	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.066114	0.93898	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.18338	2.23;2.23;2.22	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.992;0.982	T	0.00666	-1.1619	10	0.30854	T	0.27	-19.1085	20.0359	0.97557	0.0:1.0:0.0:0.0	.	439;439;440	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	L	439;440;440;439	ENSP00000367986:P439L;ENSP00000418268:P440L;ENSP00000367966:P439L	ENSP00000354945:P440L	P	+	2	0	MCM10	13270987	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.415000	0.80131	2.805000	0.96524	0.655000	0.94253	CCA	-	NULL		0.532	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	protein_coding	OTTHUMT00000356853.1	C	NM_182751	-		13230981	1	no_errors	ENST00000484800	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13230981	C	T	13230981	3	4	112	1	0	0	0	0	1	0	0	0	9387	594	21	2	1353	2	MCM10	10	13230981	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1099988	13230981	122303766	558	8053											
PTER	9317	genome.wustl.edu	37	chr10	16553079	16553079	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaagagggctgtgaagatCgaattctggtagcacatgac	14	6	1	4	rs143073635		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:16553079C>T	ENST00000378000.1	+	6	1120	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PTER_ENST00000535784.2_Nonsense_Mutation_p.R292*|PTER_ENST00000423462.2_Nonsense_Mutation_p.R245*|PTER_ENST00000298942.3_Nonsense_Mutation_p.R292*	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	292					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTGTGAAGATCGAATTCTGGT	0.408																																					Ovarian(2;46 150 15648 38137 47908)												0								ENSG00000165983	C	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	111	100	103		874,874	4.9	1	10	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	PTER	NM_001001484.1,NM_030664.3	,	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	,	292/350,292/350	16553079	2,13002	2202	4300	6502	PTER	SO:0001587	stop_gained	0			-	HGNC	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.874C>T	10.37:g.16553079C>T	ENSP00000367239:p.Arg292*	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	76	28.30	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Nonsense_Mutation	SNP							pfam_Aryldialkylphosphatase,pfam_TatD_family	p.R292*	ENST00000378000.1	37	c.874	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784921	0.90282	2.27E-4	1.16E-4	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	.	.	.	5.86	4.93	0.64822	.	0.216429	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2337	13.9438	0.64071	0.3106:0.6894:0.0:0.0	.	.	.	.	X	292;292;245;292;292	.	ENSP00000298942:R292X	R	+	1	2	PTER	16593085	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	2.433000	0.44793	2.787000	0.95880	0.603000	0.83216	CGA	-	pfam_Aryldialkylphosphatase		0.408	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	protein_coding	OTTHUMT00000047001.2	C	NM_030664	rs143073635		16553079	1	no_errors	ENST00000298942	ensembl	human	known	74_37	nonsense	SNP	0.995	T	T	16553079	C	T	16553079	4	4	112	1	0	0	0	0	0	1	0	0	12744	876	31	1	888	1	PTER	10	16553079	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3322098	16553079	118981668	559	8054											
PLXDC2	84898	genome.wustl.edu	37	chr10	20290848	20290848	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcaagcgtcggccaagactCtcctgagcccagaagcttca	10	14	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:20290848C>T	ENST00000377252.4	+	2	1098	c.257C>T	c.(256-258)tCt>tTt	p.S86F	PLXDC2_ENST00000377242.3_Missense_Mutation_p.S86F	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	86					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCCAAGACTCTCCTGAGCCC	0.498																																																	0								ENSG00000120594						82	71	74					10																	20290848		2203	4300	6503	PLXDC2	SO:0001583	missense	0			-	HGNC	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.257C>T	10.37:g.20290848C>T	ENSP00000366460:p.Ser86Phe	Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	42	41.67	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP							pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	p.S86F	ENST00000377252.4	37	c.257	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462451	0.43736	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.25250	1.88;1.81	5.9	4.98	0.66077	.	0.463132	0.24467	N	0.038273	T	0.22044	0.0531	N	0.08118	0	0.80722	D	1	P;D	0.54397	0.874;0.966	P;P	0.50440	0.549;0.641	T	0.15235	-1.0444	10	0.87932	D	0	.	14.5774	0.68258	0.1462:0.8538:0.0:0.0	.	86;86	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	F	86;86;72	ENSP00000366460:S86F;ENSP00000366450:S86F	ENSP00000366450:S86F	S	+	2	0	PLXDC2	20330854	0.235000	0.23794	0.979000	0.43373	0.071000	0.16799	1.873000	0.39558	1.468000	0.48064	0.650000	0.86243	TCT	-	NULL		0.498	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	protein_coding	OTTHUMT00000047101.2	C	NM_032812	-		20290848	1	no_errors	ENST00000377252	ensembl	human	known	74_37	missense	SNP	0.990	T	T	20290848	C	T	20290848	3	4	112	1	0	0	0	0	1	0	0	0	12120	913	32	2	263	2	PLXDC2	10	20290848	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3737769	20290848	115243899	560	8055											
GPR158	57512	genome.wustl.edu	37	chr10	25888186	25888186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaggaaagaagagatctggGatagttttaaagtgtagcat	12	3	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:25888186G>A	ENST00000376351.3	+	11	3990	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1211					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAGATCTGGGATAGTTTTAA	0.443																																																	0								ENSG00000151025						41	49	46					10																	25888186		2203	4299	6502	GPR158	SO:0001583	missense	0			-	HGNC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3631G>A	10.37:g.25888186G>A	ENSP00000365529:p.Asp1211Asn	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	Q6QR81|Q9ULT3	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.D1211N	ENST00000376351.3	37	c.3631	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941129	0.34283	.	.	ENSG00000151025	ENST00000376351	T	0.61392	0.11	5.92	5.92	0.95590	.	1.732400	0.03403	N	0.203650	T	0.49372	0.1553	N	0.08118	0	0.30457	N	0.774633	B	0.23058	0.079	B	0.26614	0.071	T	0.45469	-0.9259	10	0.25106	T	0.35	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1211	Q5T848	GP158_HUMAN	N	1211	ENSP00000365529:D1211N	ENSP00000365529:D1211N	D	+	1	0	GPR158	25928192	0.997000	0.39634	0.813000	0.32504	0.490000	0.33462	3.231000	0.51294	2.804000	0.96469	0.655000	0.94253	GAT	-	NULL		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	G	XM_166110	-		25888186	1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	SNP	0.871	A	A	25888186	G	A	25888186	3	1	112	1	0	0	0	0	1	0	0	0	6665	1174	41	2	3673	2	GPR158	10	25888186	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5597338	25888186	109646561	561	8056											
ARMC4	55130	genome.wustl.edu	37	chr10	28233361	28233361	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtatttttaatgaaccaatCtgtgtgagaaaaaaaaagat	7	3	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:28233361C>T	ENST00000305242.5	-	12	1626		c.e12-1		ARMC4_ENST00000545014.1_Splice_Site|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4						cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGAACCAATCTGTGTGAGAA	0.338																																																	1	Unknown(1)	lung(1)						ENSG00000169126						56	57	57					10																	28233361		2203	4300	6503	ARMC4	SO:0001630	splice_region_variant	0			-	HGNC	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1534-1G>A	10.37:g.28233361C>T		Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A8K906|B7Z7I1|Q9H0C0	Splice_Site	SNP							-	e11-1	ENST00000305242.5	37	c.1534-1	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395598	0.83011	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3943	0.94601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARMC4	28273367	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.479000	0.81095	2.671000	0.90904	0.585000	0.79938	.	-	-		0.338	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	protein_coding	OTTHUMT00000047339.1	C	NM_018076	-	Intron	28233361	-1	no_errors	ENST00000305242	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	28233361	C	T	28233361	5	4	112	1	0	0	0	0	0	0	1	0	953	927	32	2	1637	2	ARMC4	10	28233361	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2345175	28233361	107301386	562	8057											
MTPAP	55149	genome.wustl.edu	37	chr10	30602582	30602582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcccactggtttttgtgaAattttctgttctgttacctt	6	9	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:30602582A>G	ENST00000263063.4	-	9	1748	c.1705T>C	c.(1705-1707)Ttc>Ctc	p.F569L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.F699L	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	569					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTTTTTGTGAAATTTTCTGTT	0.363																																																	0								ENSG00000107951						159	156	157					10																	30602582		2203	4300	6503	MTPAP	SO:0001583	missense	0			-	HGNC	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1705T>C	10.37:g.30602582A>G	ENSP00000263063:p.Phe569Leu	Somatic	0	142	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	93	40.00	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP							pfam_PAP_assoc	p.F699L	ENST00000263063.4	37	c.2095	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	A	4.962	0.178677	0.09443	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.27890	2.33;1.64	5.64	-7.89	0.01174	.	2.144910	0.01557	N	0.019938	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.16247	-1.0409	10	0.11794	T	0.64	1.9274	8.4025	0.32594	0.2625:0.4015:0.336:0.0	.	699;569	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	L	699;569	ENSP00000350820:F699L;ENSP00000263063:F569L	ENSP00000263063:F569L	F	-	1	0	MTPAP	30642588	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.569000	0.05902	-1.897000	0.01101	-0.408000	0.06270	TTC	-	NULL		0.363	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	protein_coding	OTTHUMT00000047426.2	A	NM_018109	-		30602582	-1	no_errors	ENST00000358107	ensembl	human	known	74_37	missense	SNP	0.000	G	G	30602582	A	G	30602582	3	3	112	1	0	0	0	0	1	0	0	0	9958	14	1	5	47	5	MTPAP	10	30602582	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2369221	30602582	104932165	563	8058											
BMS1	9790	genome.wustl.edu	37	chr10	43281059	43281059	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcactttgatacaatgcctCattcggaactttacccggca	7	12	1	1	rs371870243		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:43281059C>T	ENST00000374518.5	+	3	369	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	102	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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						TACAATGCCTCATTCGGAACT	0.507																																																	0								ENSG00000165733	C		0,4406		0,0,2203	162	163	163		306	-5.2	0.9	10		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMS1	NM_014753.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		102/1283	43281059	1,13005	2203	4300	6503	BMS1	SO:0001819	synonymous_variant	0			-	HGNC	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.306C>T	10.37:g.43281059C>T		Somatic	0	213	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	45	61.54	Q5QPT5|Q86XJ9	Silent	SNP							pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.L102	ENST00000374518.5	37	c.306	CCDS7199.1	10																																																																																			-	superfamily_P-loop_NTPase		0.507	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	C	NM_014753	-		43281059	1	no_errors	ENST00000374518	ensembl	human	known	74_37	silent	SNP	0.428	T	T	43281059	C	T	43281059	2	4	112	1	0	0	0	0	0	0	0	1	1472	813	29	2		2	BMS1	10	43281059	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12678477	43281059	92253688	564	8059											
HNRNPF	3185	genome.wustl.edu	37	chr10	43882742	43882742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggacatgaacttcagaggGggatctgagtatgacctaac	12	8	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:43882742G>A	ENST00000544000.1	-	4	998	c.591C>T	c.(589-591)ccC>ccT	p.P197P	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Silent_p.P197P|HNRNPF_ENST00000337970.3_Silent_p.P197P|HNRNPF_ENST00000357065.4_Silent_p.P197P|HNRNPF_ENST00000443950.2_Silent_p.P197P	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	197					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTTCAGAGGGGGATCTGAGT	0.562																																																	0								ENSG00000169813						93	84	87					10																	43882742		2203	4300	6503	HNRNPF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.591C>T	10.37:g.43882742G>A		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	11	60.71	B3KM84|Q5T0N2|Q96AU2	Silent	SNP							pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.P197	ENST00000544000.1	37	c.591	CCDS7204.1	10																																																																																			-	NULL		0.562	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	protein_coding	OTTHUMT00000047705.2	G		-		43882742	-1	no_errors	ENST00000337970	ensembl	human	known	74_37	silent	SNP	0.985	A	A	43882742	G	A	43882742	2	1	112	1	0	0	0	0	0	0	0	1	7267	1219	43	2		2	HNRNPF	10	43882742	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	601683	43882742	91652005	565	8060											
SYT15	83849	genome.wustl.edu	37	chr10	46967597	46967597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccagcagccgctcagcCtcctgctcatattccaccga	6	20	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:46967597C>T	ENST00000374321.4	-	4	546	c.480G>A	c.(478-480)gaG>gaA	p.E160E	SYT15_ENST00000503753.1_Silent_p.E160E|SYT15_ENST00000374325.3_Silent_p.E160E|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Silent_p.E213E	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCCGCTCAGCCTCCTGCTCAT	0.627																																					Ovarian(57;1152 1428 19651 37745)												0								ENSG00000204176						48	60	56					10																	46967597		2041	4198	6239	SYT15	SO:0001819	synonymous_variant	0			-	HGNC	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.480G>A	10.37:g.46967597C>T		Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E213	ENST00000374321.4	37	c.639	CCDS44376.1	10																																																																																			-	superfamily_C2_dom		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	protein_coding	OTTHUMT00000367008.1	C	NM_031912	-		46967597	-1	no_errors	ENST00000374323	ensembl	human	known	74_37	silent	SNP	1.000	T	T	46967597	C	T	46967597	2	4	112	1	0	0	0	0	0	0	0	1	15478	680	24	2		2	SYT15	10	46967597	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3084855	46967597	88567150	566	8061											
FRMPD2	143162	genome.wustl.edu	37	chr10	49371643	49371643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctgtcctcttgatcCaggatggggctggtacatga	12	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:49371643C>T	ENST00000374201.3	-	28	3911	c.3609G>A	c.(3607-3609)ctG>ctA	p.L1203L	FRMPD2_ENST00000407470.4_Silent_p.L1171L|FRMPD2_ENST00000474573.1_Silent_p.L155L|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Silent_p.L1178L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1203					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTCTTGATCCAGGATGGGGC	0.517																																																	0								ENSG00000170324						2	2	2					10																	49371643		1218	2751	3969	FRMPD2	SO:0001819	synonymous_variant	0			-	HGNC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3609G>A	10.37:g.49371643C>T		Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	18	70.97	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP							pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.L1203	ENST00000374201.3	37	c.3609	CCDS31195.1	10																																																																																			-	NULL		0.517	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	C	NM_152428	-		49371643	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	SNP	0.267	T	T	49371643	C	T	49371643	2	4	112	1	0	0	0	0	0	0	0	1	6060	581	21	2		2	FRMPD2	10	49371643	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2404046	49371643	86163104	567	8062											
FRMPD2	143162	genome.wustl.edu	37	chr10	49430373	49430373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctccttagggtaattgcCaaactcagcctgcaaggcaa	8	12	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:49430373C>A	ENST00000374201.3	-	12	1740	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	FRMPD2_ENST00000407470.4_Missense_Mutation_p.G449C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G456C	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	480	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGGTAATTGCCAAACTCAGCC	0.512																																																	0								ENSG00000170324						155	147	149					10																	49430373		2203	4300	6503	FRMPD2	SO:0001583	missense	0			-	HGNC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1438G>T	10.37:g.49430373C>A	ENSP00000363317:p.Gly480Cys	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	18	52.63	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP							pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.G480C	ENST00000374201.3	37	c.1438	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601290	0.66445	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.60920	0.15;0.15;0.15	5.24	5.24	0.73138	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.82637	0.5080	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.993	D	0.87651	0.2528	9	0.87932	D	0	.	16.3123	0.82883	0.0:1.0:0.0:0.0	.	456;480;449	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	C	480;456;449	ENSP00000363317:G480C;ENSP00000307079:G456C;ENSP00000384339:G449C	ENSP00000307079:G456C	G	-	1	0	FRMPD2	49100379	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	6.877000	0.75562	2.463000	0.83235	0.555000	0.69702	GGC	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.512	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	C	NM_152428	-		49430373	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49430373	C	A	49430373	3	1	112	1	0	0	0	0	1	0	0	0	6060	594	21	3	2563	3	FRMPD2	10	49430373	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	58730	49430373	86104374	568	8063											
FRMPD2	143162	genome.wustl.edu	37	chr10	49430457	49430457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctccaggatatctttccGaagctgcaggtaaaactggt	9	11	1	0	rs141989722		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:49430457G>A	ENST00000374201.3	-	12	1656	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R421W|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R428W	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	452	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATATCTTTCCGAAGCTGCAGG	0.502																																																	0								ENSG00000170324	G	TRP/ARG	0,4406		0,0,2203	106	92	96		1354	4.5	1	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	FRMPD2	NM_001018071.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	452/1310	49430457	1,13005	2203	4300	6503	FRMPD2	SO:0001583	missense	0			-	HGNC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1354C>T	10.37:g.49430457G>A	ENSP00000363317:p.Arg452Trp	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.00	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP							pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.R452W	ENST00000374201.3	37	c.1354	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841612	0.71488	0.0	1.16E-4	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39787	1.06;1.06;1.06	5.4	4.48	0.54585	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.71945	0.3400	M	0.93978	3.48	0.47123	D	0.999324	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.79662	-0.1710	9	0.87932	D	0	.	13.1266	0.59358	0.0:0.0:0.8387:0.1613	.	428;452;421	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	W	452;428;421	ENSP00000363317:R452W;ENSP00000307079:R428W;ENSP00000384339:R421W	ENSP00000307079:R428W	R	-	1	2	FRMPD2	49100463	0.996000	0.38824	0.984000	0.44739	0.991000	0.79684	2.160000	0.42348	1.243000	0.43853	0.555000	0.69702	CGG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.502	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	G	NM_152428	rs141989722		49430457	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	SNP	0.985	A	A	49430457	G	A	49430457	3	1	112	1	0	0	0	0	1	0	0	0	6060	1057	37	1	2647	1	FRMPD2	10	49430457	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	84	49430457	86104290	569	8064											
OGDHL	55753	genome.wustl.edu	37	chr10	50944095	50944095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtgcgcgcctcaggatGgtcatgaagcgtgggctgat	17	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:50944095G>A	ENST00000374103.4	-	22	2968	c.2883C>T	c.(2881-2883)acC>acT	p.T961T	OGDHL_ENST00000432695.1_Silent_p.T752T|OGDHL_ENST00000419399.1_Silent_p.T904T|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	961					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						GCCTCAGGATGGTCATGAAGC	0.612																																																	0								ENSG00000197444						88	76	80					10																	50944095		2203	4300	6503	OGDHL	SO:0001819	synonymous_variant	0			-	HGNC	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.2883C>T	10.37:g.50944095G>A		Somatic	0	20	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP							pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.T961	ENST00000374103.4	37	c.2883	CCDS7234.1	10																																																																																			-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.612	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	G	NM_018245	-		50944095	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	silent	SNP	0.451	A	A	50944095	G	A	50944095	2	1	112	1	0	0	0	0	0	0	0	1	10842	1335	47	2		2	OGDHL	10	50944095	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1513638	50944095	84590652	570	8065											
A1CF	29974	genome.wustl.edu	37	chr10	52588055	52588055	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccccataactgaattcttCctgttgaaaatgatcaccat	5	11	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:52588055C>T	ENST00000373993.1	-	5	649	c.605G>A	c.(604-606)gGa>gAa	p.G202E	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Splice_Site_p.G210E|A1CF_ENST00000373997.3_Splice_Site_p.G202E|A1CF_ENST00000282641.2_Splice_Site_p.G202E|A1CF_ENST00000395489.2_Splice_Site_p.G195E|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.2_Splice_Site_p.G202E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	202	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTGAATTCTTCCTGTTGAAAA	0.368																																																	0								ENSG00000148584						104	103	103					10																	52588055		2203	4299	6502	A1CF	SO:0001630	splice_region_variant	0			-	HGNC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.605-1G>A	10.37:g.52588055C>T		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	17	59.52	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G202E	ENST00000373993.1	37	c.605	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701555	0.88924	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.14893	2.49;2.47;2.49;3.39;2.47;3.39	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.86178	2.8	0.80722	D	1	P;P;D;D	0.89917	0.682;0.729;1.0;0.976	P;P;D;D	0.83275	0.6;0.722;0.996;0.936	T	0.53514	-0.8428	10	0.72032	D	0.01	.	16.5954	0.84795	0.0:1.0:0.0:0.0	.	195;202;202;210	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	202;202;202;210;202;185;195	ENSP00000363113:G202E;ENSP00000363105:G202E;ENSP00000363109:G202E;ENSP00000363107:G210E;ENSP00000282641:G202E;ENSP00000378868:G195E	ENSP00000282641:G202E	G	-	2	0	A1CF	52258061	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.449000	0.80643	2.496000	0.84212	0.563000	0.77884	GGA	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.368	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	protein_coding	OTTHUMT00000048086.2	C	NM_014576	-	Missense_Mutation	52588055	-1	no_errors	ENST00000282641	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52588055	C	T	52588055	5	4	112	1	0	0	0	0	0	0	1	0	2	869	30	2	1207	2	A1CF	10	52588055	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1643960	52588055	82946692	571	8066											
PCDH15	65217	genome.wustl.edu	37	chr10	55582496	55582496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtgaggcctgggaaAgcaaaatgaagagtctgaag	15	4	1	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:55582496A>T	ENST00000320301.6	-	33	5384	c.4990T>A	c.(4990-4992)Ttt>Att	p.F1664I	PCDH15_ENST00000395432.2_Missense_Mutation_p.F1624I|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1641I|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1666I|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1661I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1595I|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1664					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)				GGCCTGGGAAAGCAAAATGAA	0.418										HNSCC(58;0.16)																																							0								ENSG00000150275						151	150	151					10																	55582496		2203	4300	6503	PCDH15	SO:0001583	missense	0			-	HGNC	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.4990T>A	10.37:g.55582496A>T	ENSP00000322604:p.Phe1664Ile	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	22	64.52	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F1664I	ENST00000320301.6	37	c.4990	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100659	0.37048	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.55413	0.55;0.52;0.57;0.54;0.53;0.54	4.95	3.78	0.43462	.	.	.	.	.	T	0.35682	0.0940	N	0.14661	0.345	0.23727	N	0.997003	B;B;B;B;B;B;B;B	0.29862	0.136;0.084;0.084;0.158;0.259;0.084;0.158;0.084	B;B;B;B;B;B;B;B	0.27887	0.084;0.084;0.084;0.084;0.084;0.084;0.065;0.084	T	0.20874	-1.0262	9	0.49607	T	0.09	.	11.3926	0.49824	0.8479:0.1521:0.0:0.0	.	1641;1664;1666;1671;1595;1624;1661;1664	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1624;1666;1641;1664;1661;1671;1595	ENSP00000378820:F1624I;ENSP00000354950:F1666I;ENSP00000378821:F1641I;ENSP00000322604:F1664I;ENSP00000378818:F1661I;ENSP00000412628:F1595I	ENSP00000322604:F1664I	F	-	1	0	PCDH15	55252502	0.992000	0.36948	0.977000	0.42913	0.627000	0.37826	2.541000	0.45735	0.707000	0.31934	0.533000	0.62120	TTT	-	NULL		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	A	NM_033056	-		55582496	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	SNP	0.858	T	T	55582496	A	T	55582496	3	4	112	1	0	0	0	0	1	0	0	0	11513	72	3	5	2487	5	PCDH15	10	55582496	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2994441	55582496	79952251	572	8067											
ANK3	288	genome.wustl.edu	37	chr10	61831215	61831215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggactaccttggggagaagGaggttgcttttgctgtctag	15	6	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61831215G>A	ENST00000280772.2	-	37	9615	c.9424C>T	c.(9424-9426)Cct>Tct	p.P3142S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3142					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)			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						TGGGGAGAAGGAGGTTGCTTT	0.428																																																	0								ENSG00000151150						122	130	128					10																	61831215		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.9424C>T	10.37:g.61831215G>A	ENSP00000280772:p.Pro3142Ser	Somatic	0	113	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	27	71.28	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P3142S	ENST00000280772.2	37	c.9424	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660529	0.14645	.	.	ENSG00000151150	ENST00000280772	T	0.62364	0.03	5.36	5.36	0.76844	.	0.172968	0.27821	N	0.017710	T	0.44912	0.1316	N	0.25647	0.755	0.80722	D	1	B	0.33528	0.416	B	0.25884	0.064	T	0.49204	-0.8964	10	0.02654	T	1	.	19.0744	0.93154	0.0:0.0:1.0:0.0	.	3142	Q12955	ANK3_HUMAN	S	3142	ENSP00000280772:P3142S	ENSP00000280772:P3142S	P	-	1	0	ANK3	61501221	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.128000	0.64733	2.515000	0.84797	0.462000	0.41574	CCT	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61831215	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61831215	G	A	61831215	3	1	112	1	0	0	0	0	1	0	0	0	622	1174	41	2	4050	2	ANK3	10	61831215	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6248719	61831215	73703532	573	8068											
ANK3	288	genome.wustl.edu	37	chr10	61832873	61832873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaactgtgacacttcaGtcagtttttcttcagcctcc	6	11	4	1	rs562676999		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61832873G>A	ENST00000280772.2	-	37	7957	c.7766C>T	c.(7765-7767)aCt>aTt	p.T2589I	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2589					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)			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						TGACACTTCAGTCAGTTTTTC	0.418													G|||	1	0.000199681	0	0	5008	,	,		19987	0		0	False		,,,				2504	0.001																0								ENSG00000151150						113	105	108					10																	61832873		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.7766C>T	10.37:g.61832873G>A	ENSP00000280772:p.Thr2589Ile	Somatic	0	16	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	1	88.89	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T2589I	ENST00000280772.2	37	c.7766	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331953	0.60853	.	.	ENSG00000151150	ENST00000280772	T	0.67865	-0.29	5.66	5.66	0.87406	.	0.000000	0.43416	D	0.000571	T	0.74642	0.3743	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.75224	-0.3393	10	0.56958	D	0.05	.	19.7366	0.96208	0.0:0.0:1.0:0.0	.	2589	Q12955	ANK3_HUMAN	I	2589	ENSP00000280772:T2589I	ENSP00000280772:T2589I	T	-	2	0	ANK3	61502879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.970000	0.70431	2.667000	0.90743	0.462000	0.41574	ACT	-	NULL		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61832873	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61832873	G	A	61832873	3	1	112	1	0	0	0	0	1	0	0	0	622	1029	36	2	5708	2	ANK3	10	61832873	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1658	61832873	73701874	574	8069											
ANK3	288	genome.wustl.edu	37	chr10	61833091	61833091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacatctttatagattttGgagagaatttcttttttggg	9	3	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61833091G>A	ENST00000280772.2	-	37	7739	c.7548C>T	c.(7546-7548)tcC>tcT	p.S2516S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2516					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)			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						TATAGATTTTGGAGAGAATTT	0.413																																																	0								ENSG00000151150						102	111	108					10																	61833091		2203	4300	6503	ANK3	SO:0001819	synonymous_variant	0			-	HGNC	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.7548C>T	10.37:g.61833091G>A		Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	24	61.29	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S2516	ENST00000280772.2	37	c.7548	CCDS7258.1	10																																																																																			-	NULL		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61833091	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	SNP	1.000	A	A	61833091	G	A	61833091	2	1	112	1	0	0	0	0	0	0	0	1	622	1335	47	2		2	ANK3	10	61833091	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	218	61833091	73701656	575	8070											
ANK3	288	genome.wustl.edu	37	chr10	61955932	61955932	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaggtgaggctccttGgtccaaaagcagaagggcca	15	9	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61955932G>A	ENST00000280772.2	-	16	2049	c.1858C>T	c.(1858-1860)Caa>Taa	p.Q620*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q603*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q614*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	620					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)			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						GAGGCTCCTTGGTCCAAAAGC	0.488																																																	0								ENSG00000151150						141	105	117					10																	61955932		2203	4300	6503	ANK3	SO:0001587	stop_gained	0			-	HGNC	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.1858C>T	10.37:g.61955932G>A	ENSP00000280772:p.Gln620*	Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	18	69.49	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.Q620*	ENST00000280772.2	37	c.1858	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.639635	0.99226	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	.	.	.	5.91	5.91	0.95273	.	0.000000	0.37669	N	0.001986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0617	0.71961	0.0:0.0:0.8582:0.1418	.	.	.	.	X	620;614;603;582;281;281;164	.	ENSP00000280772:Q620X	Q	-	1	0	ANK3	61625938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.640000	0.67875	2.793000	0.96121	0.655000	0.94253	CAA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61955932	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	61955932	G	A	61955932	4	1	112	1	0	0	0	0	0	1	0	0	622	1357	47	2	11720	2	ANK3	10	61955932	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	122841	61955932	73578815	576	8071											
ZMIZ1	57178	genome.wustl.edu	37	chr10	81070908	81070908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcaggccggagcgcaGggagcgtccgacatgccgga	19	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:81070908G>A	ENST00000334512.5	+	24	3635	c.3063G>A	c.(3061-3063)caG>caA	p.Q1021Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1021					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGGAGCGCAGGGAGCGTCCG	0.687																																																	0								ENSG00000108175						73	79	77					10																	81070908		2203	4300	6503	ZMIZ1	SO:0001819	synonymous_variant	0			-	HGNC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3063G>A	10.37:g.81070908G>A		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	Q5JSH9|Q7Z7E6	Silent	SNP							pfam_Znf_MIZ,pfscan_Znf_MIZ	p.Q1021	ENST00000334512.5	37	c.3063	CCDS7357.1	10																																																																																			-	NULL		0.687	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	protein_coding	OTTHUMT00000048944.2	G	NM_020338	-		81070908	1	no_errors	ENST00000334512	ensembl	human	known	74_37	silent	SNP	1.000	A	A	81070908	G	A	81070908	2	1	112	1	0	0	0	0	0	0	0	1	17703	991	35	2		2	ZMIZ1	10	81070908	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	19114976	81070908	54463839	577	8072											
OPN4	94233	genome.wustl.edu	37	chr10	88419679	88419679	+	Silent	SNP	G	G	A													cagaccttcggggcctgcaaGggcaatggcgagtccctgtg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:88419679G>A	ENST00000241891.5	+	6	995	c.828G>A	c.(826-828)aaG>aaA	p.K276K	OPN4_ENST00000372071.2_Silent_p.K287K	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	276					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGGCCTGCAAGGGCAATGGCG	0.637																																																	0								ENSG00000122375						103	76	85					10																	88419679		2203	4300	6503	OPN4	SO:0001819	synonymous_variant	0			-	HGNC	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.828G>A	10.37:g.88419679G>A		Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	21	53.33	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.K287	ENST00000241891.5	37	c.861	CCDS7376.1	10																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	protein_coding	OTTHUMT00000049158.2	G	NM_033282	-		88419679	1	no_errors	ENST00000372071	ensembl	human	known	74_37	silent	SNP	0.218	A	A	88419679	G	A	88419679	2	1	112	1	0	0	0	0	0	0	0	1	10884	991	35	2		2	OPN4	10	88419679	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7348771	88419679	47115068	578	8073	120	2									
OPN4	94233	genome.wustl.edu	37	chr10	88419685	88419685	+	Silent	SNP	T	T	C													ttcggggcctgcaagggcaaTggcgagtccctgtggcagcg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:88419685T>C	ENST00000241891.5	+	6	1001	c.834T>C	c.(832-834)aaT>aaC	p.N278N	OPN4_ENST00000372071.2_Silent_p.N289N	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	278					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAAGGGCAATGGCGAGTCCC	0.642																																																	0								ENSG00000122375						105	77	87					10																	88419685		2203	4300	6503	OPN4	SO:0001819	synonymous_variant	0			-	HGNC	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.834T>C	10.37:g.88419685T>C		Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	20	56.52	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.N289	ENST00000241891.5	37	c.867	CCDS7376.1	10																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.642	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	protein_coding	OTTHUMT00000049158.2	T	NM_033282	-		88419685	1	no_errors	ENST00000372071	ensembl	human	known	74_37	silent	SNP	0.000	C	C	88419685	T	C	88419685	2	2	112	1	0	0	0	0	0	0	0	1	10884	1461	51	5		5	OPN4	10	88419685	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	6	88419685	47115062	579	8074	120	2									
PLCE1	51196	genome.wustl.edu	37	chr10	96053358	96053358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatccgggcagaatgagccCaggggagacagcatcattta	12	10	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:96053358C>T	ENST00000371380.3	+	22	5364	c.5129C>T	c.(5128-5130)cCa>cTa	p.P1710L	PLCE1_ENST00000260766.3_Missense_Mutation_p.P1710L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1402L|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1402L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1710	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. {ECO:0000250}.				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)				AGAATGAGCCCAGGGGAGACA	0.403																																																	0								ENSG00000138193						111	109	110					10																	96053358		1864	4101	5965	PLCE1	SO:0001583	missense	0			-	HGNC		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.5129C>T	10.37:g.96053358C>T	ENSP00000360431:p.Pro1710Leu	Somatic	0	85	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	39	45.07	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P1710L	ENST00000371380.3	37	c.5129	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874306	0.91664	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25912	1.77;1.77;1.79;1.79	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.211637	0.41001	D	0.000967	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	D;P;P	0.67145	0.996;0.887;0.917	P;P;B	0.51516	0.672;0.638;0.421	T	0.03268	-1.1054	10	0.72032	D	0.01	.	19.5923	0.95520	0.0:1.0:0.0:0.0	.	1694;1402;1710	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	1710;1710;1402;1402	ENSP00000260766:P1710L;ENSP00000360431:P1710L;ENSP00000360438:P1402L;ENSP00000360426:P1402L	ENSP00000260766:P1710L	P	+	2	0	PLCE1	96043348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.192000	0.77771	2.798000	0.96311	0.650000	0.86243	CCA	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.403	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	C	NM_016341	-		96053358	1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96053358	C	T	96053358	3	4	112	1	0	0	0	0	1	0	0	0	12036	594	21	2	5501	2	PLCE1	10	96053358	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7633673	96053358	39481389	580	8075											
CYP2C19	1557	genome.wustl.edu	37	chr10	96541613	96541613	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccactatcattgattatttCccgggaacccataacaaatt	4	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:96541613C>T	ENST00000371321.3	+	5	760	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	226					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGATTATTTCCCGGGAACCC	0.289																																																	0								ENSG00000165841						48	53	51					10																	96541613		2203	4299	6502	CYP2C19	SO:0001819	synonymous_variant	0			-	HGNC	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.678C>T	10.37:g.96541613C>T		Somatic	0	241	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	116	61	65.17	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F226	ENST00000371321.3	37	c.678	CCDS7436.1	10																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.289	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	protein_coding	OTTHUMT00000049490.1	C	NM_000769	-		96541613	1	no_errors	ENST00000371321	ensembl	human	known	74_37	silent	SNP	0.011	T	T	96541613	C	T	96541613	2	4	112	1	0	0	0	0	0	0	0	1	4168	854	30	2		2	CYP2C19	10	96541613	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	488255	96541613	38993134	581	8076											
CRTAC1	55118	genome.wustl.edu	37	chr10	99661285	99661285	+	Frame_Shift_Del	DEL	T	T	-													gaggcggttggctgaggagcTgcggtaggcaatgttgttga							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99661285delT	ENST00000370597.3	-	8	1463	c.1108delA	c.(1108-1110)agcfs	p.S372fs	CRTAC1_ENST00000298819.4_Frame_Shift_Del_p.S372fs|CRTAC1_ENST00000370591.2_Frame_Shift_Del_p.S372fs	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	372						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGAGGAGCTGCGGTAGGCA	0.567																																																	0								ENSG00000095713						122	97	105					10																	99661285		2203	4300	6503	CRTAC1	SO:0001589	frameshift_variant	0				HGNC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1108delA	10.37:g.99661285delT	ENSP00000359629:p.Ser372fs	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	25	58.33	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Frame_Shift_Del	DEL							pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.S370fs	ENST00000370597.3	37	c.1108	CCDS31266.1	10																																																																																			-	NULL		0.567	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	protein_coding	OTTHUMT00000049754.1	T	NM_018058			99661285	-1	no_errors	ENST00000370597	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	99661285	T	-	99661285	7	5	112	1	0	1	0	1	0	0	0	0	3898	1580	55	0	909	0	CRTAC1	10	99661285	Frame_Shift_Del	DEL	T	TCGA-DX-AB2E-01A-11D-A38Z-09	3119672	99661285	35873462	582	8077	121	2									
CRTAC1	55118	genome.wustl.edu	37	chr10	99661287	99661287	+	Missense_Mutation	SNP	C	C	G													ggcggttggctgaggagctgCggtaggcaatgttgttgaag					rs368780856		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99661287C>G	ENST00000370597.3	-	8	1461	c.1106G>C	c.(1105-1107)cGc>cCc	p.R369P	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369P|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369P	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	369						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGAGGAGCTGCGGTAGGCAAT	0.572																																																	0								ENSG00000095713						125	100	109					10																	99661287		2203	4300	6503	CRTAC1	SO:0001583	missense	0			-	HGNC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1106G>C	10.37:g.99661287C>G	ENSP00000359629:p.Arg369Pro	Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	22	65.08	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP							pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.R369P	ENST00000370597.3	37	c.1106	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657495	0.67586	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	4.27	4.27	0.50696	.	0.064020	0.64402	D	0.000014	T	0.41236	0.1150	M	0.72479	2.2	0.58432	D	0.999993	D;D;D	0.71674	0.997;0.998;0.997	P;P;P	0.59221	0.851;0.835;0.854	T	0.31447	-0.9943	10	0.38643	T	0.18	-15.4033	16.9023	0.86117	0.0:1.0:0.0:0.0	.	369;369;265	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	P	265;369;369;361;369	ENSP00000408445:R265P;ENSP00000359629:R369P;ENSP00000298819:R369P;ENSP00000310810:R361P;ENSP00000359623:R369P	ENSP00000298819:R369P	R	-	2	0	CRTAC1	99651277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.699000	0.61796	2.208000	0.71279	0.462000	0.41574	CGC	-	NULL		0.572	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	protein_coding	OTTHUMT00000049754.1	C	NM_018058	-		99661287	-1	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	SNP	1.000	G	G	99661287	C	G	99661287	3	3	112	1	0	0	0	0	1	0	0	0	3898	768	27	4	911	4	CRTAC1	10	99661287	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2	99661287	35873460	583	8078	121	2									
COL17A1	1308	genome.wustl.edu	37	chr10	105799254	105799254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctggtggtccctgaaGgttgagtccgaaagaactgg	16	8	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:105799254G>A	ENST00000353479.5	-	43	3135	c.2845C>T	c.(2845-2847)Ctt>Ttt	p.L949F	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	949	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTCCCTGAAGGTTGAGTCCG	0.612																																																	0								ENSG00000065618						82	85	84					10																	105799254		2203	4300	6503	COL17A1	SO:0001583	missense	0			-	HGNC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2845C>T	10.37:g.105799254G>A	ENSP00000340937:p.Leu949Phe	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	20	59.18	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP							pfam_Collagen	p.L949F	ENST00000353479.5	37	c.2845	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447382	0.25987	.	.	ENSG00000065618	ENST00000353479	D	0.91521	-2.86	4.97	4.04	0.47022	.	0.000000	0.30959	N	0.008539	D	0.87521	0.6198	L	0.43646	1.37	0.40047	D	0.975728	P	0.44877	0.845	B	0.44278	0.445	D	0.86677	0.1914	10	0.52906	T	0.07	-1.0822	10.4796	0.44684	0.0:0.0:0.8055:0.1945	.	949	Q9UMD9	COHA1_HUMAN	F	949	ENSP00000340937:L949F	ENSP00000340937:L949F	L	-	1	0	COL17A1	105789244	0.723000	0.28027	0.661000	0.29709	0.977000	0.68977	1.405000	0.34635	1.051000	0.40369	0.491000	0.48974	CTT	-	NULL		0.612	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	G	NM_130778, NM_000494	-		105799254	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	SNP	0.437	A	A	105799254	G	A	105799254	3	1	112	1	0	0	0	0	1	0	0	0	3676	1000	35	2	1704	2	COL17A1	10	105799254	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6137967	105799254	29735493	584	8079											
NRAP	4892	genome.wustl.edu	37	chr10	115364512	115364512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccaggtgcaccatgtcCatgggcagatggaactgggc	15	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:115364512C>T	ENST00000359988.3	-	35	4327	c.4083G>A	c.(4081-4083)atG>atA	p.M1361I	NRAP_ENST00000369358.4_Missense_Mutation_p.M1369I|NRAP_ENST00000360478.3_Missense_Mutation_p.M1326I|NRAP_ENST00000369360.3_Missense_Mutation_p.M1334I	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)		GCACCATGTCCATGGGCAGAT	0.632																																																	0								ENSG00000197893						118	115	116					10																	115364512		2203	4300	6503	NRAP	SO:0001583	missense	0			-	HGNC		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.4083G>A	10.37:g.115364512C>T	ENSP00000353078:p.Met1361Ile	Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	4	85.71		Missense_Mutation	SNP							pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.M1369I	ENST00000359988.3	37	c.4107	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218161	0.39201	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.68	4.78	0.61160	.	0.643900	0.17578	N	0.169222	T	0.36908	0.0984	M	0.62723	1.935	0.35132	D	0.768043	B;B;B;B	0.24618	0.107;0.032;0.029;0.017	B;B;B;B	0.23150	0.044;0.017;0.037;0.017	T	0.43081	-0.9413	10	0.25751	T	0.34	.	14.3912	0.66981	0.0:0.9293:0.0:0.0707	.	519;1361;1326;1361	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	I	1369;1334;1361;1326;519	ENSP00000358365:M1369I;ENSP00000358367:M1334I;ENSP00000353078:M1361I;ENSP00000353666:M1326I	ENSP00000353078:M1361I	M	-	3	0	NRAP	115354502	0.985000	0.35326	0.984000	0.44739	0.929000	0.56500	2.021000	0.41020	1.415000	0.47037	0.650000	0.86243	ATG	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.632	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050425.2	C	NM_006175	-		115364512	-1	no_errors	ENST00000369358	ensembl	human	known	74_37	missense	SNP	0.981	T	T	115364512	C	T	115364512	3	4	112	1	0	0	0	0	1	0	0	0	10640	594	21	2	1141	2	NRAP	10	115364512	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9565258	115364512	20170235	585	8080											
ATRNL1	26033	genome.wustl.edu	37	chr10	117228698	117228698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctggaacaatatctggGgaagagacttctatagtttc	10	6	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:117228698G>A	ENST00000355044.3	+	24	3639	c.3513G>A	c.(3511-3513)ggG>ggA	p.G1171G	ATRNL1_ENST00000423111.2_Silent_p.G222G|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1171					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)		CAATATCTGGGGAAGAGACTT	0.229																																																	0								ENSG00000107518						22	24	24					10																	117228698		2131	4229	6360	ATRNL1	SO:0001819	synonymous_variant	0			-	HGNC	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.3513G>A	10.37:g.117228698G>A		Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	22	63.93	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G1171	ENST00000355044.3	37	c.3513	CCDS7592.1	10																																																																																			-	NULL		0.229	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	G	XM_049349	-		117228698	1	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	SNP	0.767	A	A	117228698	G	A	117228698	2	1	112	1	0	0	0	0	0	0	0	1	1207	1219	43	2		2	ATRNL1	10	117228698	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1864186	117228698	18306049	586	8081											
TACC2	10579	genome.wustl.edu	37	chr10	123848097	123848097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagaccagaggtgcggaagGaacagaaaggtcagcgaaag	16	6	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:123848097G>A	ENST00000369005.1	+	5	5904	c.5564G>A	c.(5563-5565)gGa>gAa	p.G1855E	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G1855E|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1855E|TACC2_ENST00000515273.1_Missense_Mutation_p.G1855E|TACC2_ENST00000515603.1_Missense_Mutation_p.G1855E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1855					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)				GGTGCGGAAGGAACAGAAAGG	0.478																																																	0								ENSG00000138162						74	64	68					10																	123848097		2203	4300	6503	TACC2	SO:0001583	missense	0			-	HGNC	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.5564G>A	10.37:g.123848097G>A	ENSP00000358001:p.Gly1855Glu	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	36	58.62	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP							pfam_TACC	p.G1855E	ENST00000369005.1	37	c.5564	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376006	0.42105	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.42513	0.97;3.73;4.14;0.97;3.73	5.26	1.32	0.21799	.	.	.	.	.	T	0.26593	0.0650	L	0.27053	0.805	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.054	B;B;B	0.21708	0.036;0.036;0.036	T	0.14309	-1.0477	9	0.40728	T	0.16	-0.106	7.5184	0.27614	0.3546:0.0:0.6454:0.0	.	1855;1855;1855	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	E	1855;1855;1855;1855;1855;1845	ENSP00000358001:G1855E;ENSP00000424467:G1855E;ENSP00000427618:G1855E;ENSP00000334280:G1855E;ENSP00000395048:G1855E	ENSP00000334280:G1855E	G	+	2	0	TACC2	123838087	0.002000	0.14202	0.014000	0.15608	0.458000	0.32498	0.284000	0.18864	0.046000	0.15833	-0.152000	0.13540	GGA	-	NULL		0.478	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	G		-		123848097	1	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	SNP	0.001	A	A	123848097	G	A	123848097	3	1	112	1	0	0	0	0	1	0	0	0	15509	1174	41	2	5578	2	TACC2	10	123848097	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6619399	123848097	11686650	587	8082											
DMBT1	1755	genome.wustl.edu	37	chr10	124336154	124336154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgcgctgctcaggacacGaatcctacctgtggagctgc	12	12	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:124336154G>A	ENST00000338354.3	+	7	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	175	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAATCCTACCT	0.582																																					Ovarian(182;93 2026 18125 22222 38972)												0								ENSG00000187908						140	136	137					10																	124336154		2037	4217	6254	DMBT1	SO:0001583	missense	0			-	HGNC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.523G>A	10.37:g.124336154G>A	ENSP00000342210:p.Glu175Lys	Somatic	0	145	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	37	65.09	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP							pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.E175K	ENST00000338354.3	37	c.523		10	.	.	.	.	.	.	.	.	.	.	g	14.16	2.453881	0.43531	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.41	1.52	0.23074	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.128570	0.07188	N	0.855228	D	0.83852	0.5344	H	0.94306	3.52	0.30793	N	0.74074	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;1.0;1.0	D;D;D;B;D;D	0.97110	0.999;0.999;0.998;0.344;0.992;1.0	T	0.71471	-0.4583	10	0.87932	D	0	.	9.3576	0.38175	0.2362:0.0:0.7638:0.0	.	175;175;175;175;175;175	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	K	175	ENSP00000342210:E175K;ENSP00000343175:E175K;ENSP00000327747:E175K;ENSP00000357905:E175K;ENSP00000357951:E175K;ENSP00000357952:E175K;ENSP00000352593:E175K	ENSP00000331522:E175K	E	+	1	0	DMBT1	124326144	1.000000	0.71417	0.005000	0.12908	0.021000	0.10359	9.292000	0.96076	0.100000	0.17581	-0.136000	0.14681	GAA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	G	NM_004406	-		124336154	1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	SNP	0.905	A	A	124336154	G	A	124336154	3	1	112	1	0	0	0	0	1	0	0	0	4579	1059	37	1	549	1	DMBT1	10	124336154	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	488057	124336154	11198593	588	8083											
C10orf120	399814	genome.wustl.edu	37	chr10	124457412	124457412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatatgcagaaaagatttCggtttgttaggcctgcgatg	12	6	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:124457412C>T	ENST00000329446.4	-	3	876	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	282										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)				GAAAAGATTTCGGTTTGTTAG	0.413																																																	0								ENSG00000183559						165	161	162					10																	124457412		2203	4300	6503	C10orf120	SO:0001583	missense	0			-	HGNC		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.845G>A	10.37:g.124457412C>T	ENSP00000331012:p.Arg282Gln	Somatic	0	71	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	24	64.18	B2RU17	Missense_Mutation	SNP							NULL	p.R282Q	ENST00000329446.4	37	c.845	CCDS31302.1	10	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385770	0.61956	.	.	ENSG00000183559	ENST00000329446	T	0.52983	0.64	4.78	3.88	0.44766	.	0.000000	0.43260	D	0.000598	T	0.50017	0.1591	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	P	0.49276	0.605	T	0.48636	-0.9018	10	0.72032	D	0.01	-17.5491	9.0491	0.36365	0.0:0.9003:0.0:0.0997	.	282	Q5SQS8	CJ120_HUMAN	Q	282	ENSP00000331012:R282Q	ENSP00000331012:R282Q	R	-	2	0	C10orf120	124447402	0.768000	0.28519	0.072000	0.20136	0.018000	0.09664	3.084000	0.50143	1.369000	0.46134	-0.142000	0.14014	CGA	-	NULL		0.413	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	protein_coding	OTTHUMT00000050803.1	C	NM_001010912	-		124457412	-1	no_errors	ENST00000329446	ensembl	human	known	74_37	missense	SNP	0.128	T	T	124457412	C	T	124457412	3	4	112	1	0	0	0	0	1	0	0	0	1592	884	31	1	166	1	C10orf120	10	124457412	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	121258	124457412	11077335	589	8084											
CUZD1	50624	genome.wustl.edu	37	chr10	124591959	124591959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgcatgtgtttcatgCtgaaatcctaaaattggaaa	7	8	2	1	rs201620290		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:124591959C>T	ENST00000368904.1	-	11	2608	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	CUZD1_ENST00000392790.1_Silent_p.Q553Q|CUZD1_ENST00000545804.1_Silent_p.Q553Q					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTGTTTCATGCTGAAATCCTA	0.363																																																	0								ENSG00000138161						119	100	107					10																	124591959		2203	4300	6503	CUZD1	SO:0001819	synonymous_variant	0			-	HGNC	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1659G>A	10.37:g.124591959C>T		Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	14	68.89		Silent	SNP							pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom	p.Q553	ENST00000368904.1	37	c.1659	CCDS7631.1	10																																																																																			-	NULL		0.363	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	protein_coding	OTTHUMT00000050829.2	C	NM_022034	-		124591959	-1	no_errors	ENST00000368904	ensembl	human	known	74_37	silent	SNP	0.000	T	T	124591959	C	T	124591959	2	4	112	1	0	0	0	0	0	0	0	1	4068	796	28	2		2	CUZD1	10	124591959	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	134547	124591959	10942788	590	8085											
DOCK1	1793	genome.wustl.edu	37	chr10	128830476	128830476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagttggaagaaaagGgccactcggccaccggcaag	15	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:128830476G>A	ENST00000280333.6	+	18	1850	c.1741G>A	c.(1741-1743)Ggc>Agc	p.G581S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	581	DHR-1.				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)		GGAAGAAAAGGGCCACTCGGC	0.557																																																	0								ENSG00000150760						27	28	28					10																	128830476		2119	4235	6354	DOCK1	SO:0001583	missense	0			-	HGNC	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.1741G>A	10.37:g.128830476G>A	ENSP00000280333:p.Gly581Ser	Somatic	0	28	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	3	76.92	A9Z1Z5	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.G581S	ENST00000280333.6	37	c.1741		10	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515766	0.64634	.	.	ENSG00000150760	ENST00000280333	T	0.03745	3.82	3.85	3.85	0.44370	.	0.057583	0.64402	D	0.000002	T	0.04634	0.0126	L	0.39467	1.215	0.80722	D	1	B;B	0.13594	0.007;0.008	B;B	0.19666	0.012;0.026	T	0.45702	-0.9243	10	0.16896	T	0.51	.	17.1159	0.86688	0.0:0.0:1.0:0.0	.	581;581	B2RUU3;Q14185	.;DOCK1_HUMAN	S	581	ENSP00000280333:G581S	ENSP00000280333:G581S	G	+	1	0	DOCK1	128720466	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.526000	0.98042	2.415000	0.81967	0.655000	0.94253	GGC	-	NULL		0.557	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	protein_coding	OTTHUMT00000050979.2	G	NM_001380	-		128830476	1	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128830476	G	A	128830476	3	1	112	1	0	0	0	0	1	0	0	0	4686	1232	43	2	1811	2	DOCK1	10	128830476	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4238517	128830476	6704271	591	8086											
GPR123	84435	genome.wustl.edu	37	chr10	134942553	134942553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggaggagggcgccttCgggcacgacccccacctgca	14	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:134942553C>T	ENST00000392607.3	+	7	1657	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	GPR123_ENST00000607359.1_Silent_p.F1126F|GPR123_ENST00000392606.2_Silent_p.F310F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	407					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGGCGCCTTCGGGCACGACC	0.682																																																	0								ENSG00000197177						10	9	9					10																	134942553		2137	4215	6352	GPR123	SO:0001819	synonymous_variant	0			-	HGNC	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1221C>T	10.37:g.134942553C>T		Somatic	0	10	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	1	88.89	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP							pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.F1126	ENST00000392607.3	37	c.3378	CCDS41580.1	10																																																																																			-	NULL		0.682	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	protein_coding	OTTHUMT00000051113.2	C		-		134942553	1	no_errors	ENST00000607359	ensembl	human	putative	74_37	silent	SNP	0.850	T	T	134942553	C	T	134942553	2	4	112	1	0	0	0	0	0	0	0	1	6639	883	31	1		1	GPR123	10	134942553	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6112077	134942553	592194	592	8087											
RNH1	6050	genome.wustl.edu	37	chr11	494993	494993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcacgcaggctgtggttGgccaacagggttgcggcgag	17	10	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:494993G>A	ENST00000534797.1	-	8	2595	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	RNH1_ENST00000397614.1_Silent_p.A396A|RNH1_ENST00000397604.3_Silent_p.A396A|RNH1_ENST00000438658.2_Silent_p.A396A|RNH1_ENST00000356187.5_Silent_p.A396A|RNH1_ENST00000354420.2_Silent_p.A396A|RNH1_ENST00000397615.2_Silent_p.A396A|RNH1_ENST00000533410.1_Silent_p.A396A			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTGGTTGGCCAACAGGG	0.697																																																	0								ENSG00000023191						23	24	23					11																	494993		2197	4298	6495	RNH1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1188C>T	11.37:g.494993G>A		Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	34	46.88	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.A396	ENST00000534797.1	37	c.1188	CCDS7697.1	11																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.697	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	protein_coding	OTTHUMT00000384301.1	G	NM_203389	-		494993	-1	no_errors	ENST00000354420	ensembl	human	known	74_37	silent	SNP	0.183	A	A	494993	G	A	494993	2	1	112	1	0	0	0	0	0	0	0	1	13512	1335	47	2		2	RNH1	11	494993	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		494993	134511523	593	8088											
LRRC56	115399	genome.wustl.edu	37	chr11	554066	554066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtggtcgacagacctgcaGtccagggggcgtcggctccg	17	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:554066G>T	ENST00000270115.7	+	14	1919	c.1419G>T	c.(1417-1419)caG>caT	p.Q473H		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	473										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGACCTGCAGTCCAGGGGGC	0.697																																																	0								ENSG00000161328						53	58	56					11																	554066		2203	4299	6502	LRRC56	SO:0001583	missense	0			-	HGNC		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1419G>T	11.37:g.554066G>T	ENSP00000270115:p.Gln473His	Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q8N3Q4	Missense_Mutation	SNP							NULL	p.Q473H	ENST00000270115.7	37	c.1419	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	G	4.648	0.120386	0.08881	.	.	ENSG00000161328	ENST00000270115	T	0.09445	2.98	3.03	-2.26	0.06867	.	1.808570	0.03619	N	0.236118	T	0.07593	0.0191	N	0.24115	0.695	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.36432	-0.9748	10	0.42905	T	0.14	-14.2101	8.3619	0.32363	0.0:0.5999:0.2463:0.1538	.	473	Q8IYG6	LRC56_HUMAN	H	473	ENSP00000270115:Q473H	ENSP00000270115:Q473H	Q	+	3	2	LRRC56	544066	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.587000	0.05780	-0.423000	0.07394	0.313000	0.20887	CAG	-	NULL		0.697	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	protein_coding	OTTHUMT00000254969.1	G	NM_198075	-		554066	1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	SNP	0.000	T	T	554066	G	T	554066	3	4	112	1	0	0	0	0	1	0	0	0	9014	1020	36	3	1461	3	LRRC56	11	554066	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	59073	554066	134452450	594	8089											
MUC6	4588	genome.wustl.edu	37	chr11	1028893	1028893	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgggccaggacgtacgagtCttgtatggcagccacttggc	14	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1028893C>G	ENST00000421673.2	-	12	1499	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	483	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)		ACGTACGAGTCTTGTATGGCA	0.627																																																	0								ENSG00000184956						80	89	86					11																	1028893		2050	4187	6237	MUC6	SO:0001583	missense	0			-	HGNC	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.1449G>C	11.37:g.1028893C>G	ENSP00000406861:p.Lys483Asn	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.K483N	ENST00000421673.2	37	c.1449	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592068	0.13812	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	-0.734	0.11140	von Willebrand factor, type D domain (3);	0.000000	0.31859	U	0.006946	T	0.43567	0.1253	N	0.21324	0.655	0.09310	N	1	P	0.37914	0.611	P	0.48598	0.583	T	0.28073	-1.0055	10	0.38643	T	0.18	.	2.2678	0.04083	0.418:0.2694:0.0:0.3125	.	483	Q6W4X9	MUC6_HUMAN	N	483	ENSP00000406861:K483N	ENSP00000406861:K483N	K	-	3	2	MUC6	1018893	0.000000	0.05858	0.008000	0.14137	0.104000	0.19210	-0.878000	0.04192	0.034000	0.15491	0.313000	0.20887	AAG	-	pfam_VWF_type-D,smart_VWF_type-D		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	C	XM_290540	-		1028893	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	SNP	0.005	G	G	1028893	C	G	1028893	3	3	112	1	0	0	0	0	1	0	0	0	9982	912	32	4	5958	4	MUC6	11	1028893	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	474827	1028893	133977623	595	8090											
MUC5B	727897	genome.wustl.edu	37	chr11	1263008	1263008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttctcaacgccgcagcCtacgagtagcccggggctga	12	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1263008C>T	ENST00000529681.1	+	31	4956	c.4898C>T	c.(4897-4899)cCt>cTt	p.P1633L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1636L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1633	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)		ACGCCGCAGCCTACGAGTAGC	0.667																																																	0								ENSG00000117983						23	30	27					11																	1263008		2047	4168	6215	MUC5B	SO:0001583	missense	0			-	HGNC	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.4898C>T	11.37:g.1263008C>T	ENSP00000436812:p.Pro1633Leu	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1636L	ENST00000529681.1	37	c.4907	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	8.264	0.811781	0.16537	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.19	1.41	1.41	0.22369	.	.	.	.	.	T	0.14056	0.0340	N	0.19112	0.55	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.32289	0.143;0.143	T	0.26224	-1.0109	9	0.87932	D	0	.	9.9372	0.41559	0.0:1.0:0.0:0.0	.	2326;1636	A7Y9J9;E9PBJ0	.;.	L	1633;1636;1634;1703	ENSP00000436812:P1633L;ENSP00000415793:P1636L	ENSP00000343037:P1634L	P	+	2	0	MUC5B	1219584	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.177000	0.16801	1.095000	0.41419	0.306000	0.20318	CCT	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093	-		1263008	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.004	T	T	1263008	C	T	1263008	3	4	112	1	0	0	0	0	1	0	0	0	9981	681	24	2	5029	2	MUC5B	11	1263008	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	234115	1263008	133743508	596	8091											
MUC5B	727897	genome.wustl.edu	37	chr11	1267498	1267498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccctcctccactccgGggacgacctggatcctcaca	7	21	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1267498G>A	ENST00000529681.1	+	31	9446	c.9388G>A	c.(9388-9390)Ggg>Agg	p.G3130R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G3133R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3130	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		CTCCACTCCGGGGACGACCTG	0.657																																																	0								ENSG00000117983						75	98	91					11																	1267498		2073	4193	6266	MUC5B	SO:0001583	missense	0			-	HGNC	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.9388G>A	11.37:g.1267498G>A	ENSP00000436812:p.Gly3130Arg	Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G3133R	ENST00000529681.1	37	c.9397	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	3.191	-0.165774	0.06461	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.24908	1.83;2.01	1.66	0.72	0.18214	.	.	.	.	.	T	0.14874	0.0359	L	0.29908	0.895	0.09310	N	1	B;B	0.32010	0.159;0.351	B;B	0.21708	0.015;0.036	T	0.18429	-1.0337	9	0.87932	D	0	.	5.3688	0.16129	0.4144:0.0:0.5856:0.0	.	3713;3133	A7Y9J9;E9PBJ0	.;.	R	3130;3133;3102;3090;20	ENSP00000436812:G3130R;ENSP00000415793:G3133R	ENSP00000343037:G3102R	G	+	1	0	MUC5B	1224074	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.371000	0.07513	0.282000	0.22254	0.186000	0.17326	GGG	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1267498	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.000	A	A	1267498	G	A	1267498	3	1	112	1	0	0	0	0	1	0	0	0	9981	1232	43	2	9519	2	MUC5B	11	1267498	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4490	1267498	133739018	597	8092											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651391	1651391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtggggtgtccaagggGgcctgtggctcctgtggggg	20	9	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1651391G>A	ENST00000399676.2	+	1	359	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	107	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTCCAAGGGGGCCTGTGGCT	0.687																																																	0								ENSG00000185940						41	56	51					11																	1651391		2188	4285	6473	KRTAP5-5	SO:0001819	synonymous_variant	0			-	HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.321G>A	11.37:g.1651391G>A		Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	A8MWN2	Silent	SNP							NULL	p.G107	ENST00000399676.2	37	c.321	CCDS41592.1	11																																																																																			-	NULL		0.687	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	G		-		1651391	1	no_errors	ENST00000399676	ensembl	human	known	74_37	silent	SNP	0.753	A	A	1651391	G	A	1651391	2	1	112	1	0	0	0	0	0	0	0	1	8566	1219	43	2		2	KRTAP5-5	11	1651391	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	383893	1651391	133355125	598	8093											
IGF2	3481	genome.wustl.edu	37	chr11	2161490	2161490	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgcgagttcggtctcggGggccaccacgataatttggg	15	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2161490G>A	ENST00000381389.1	-	1	160				IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000381392.1_5'Flank|IGF2-AS_ENST00000381363.4_RNA|IGF2_ENST00000434045.2_Missense_Mutation_p.P13S|IGF2_ENST00000300632.5_Intron|IGF2_ENST00000381395.1_5'Flank|IGF2_ENST00000381406.4_5'Flank|IGF2-AS_ENST00000445504.2_RNA|IGF2_ENST00000418738.2_5'Flank|IGF2_ENST00000416167.2_5'Flank			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|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;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCGGTCTCGGGGGCCACCACG	0.512																																																	0								ENSG00000167244						39	41	40					11																	2161490		1567	3581	5148	IGF2	SO:0001627	intron_variant	0			-	HGNC	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000381389.1:c.5+596C>T	11.37:g.2161490G>A		Somatic	0	245	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	127	115	52.48	B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP							pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.P13S	ENST00000381389.1	37	c.37	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411095	0.25465	.	.	ENSG00000167244	ENST00000434045	D	0.92911	-3.13	1.9	1.9	0.25705	.	.	.	.	.	D	0.82930	0.5144	N	0.19112	0.55	0.54753	D	0.999989	B	0.27286	0.174	B	0.16722	0.016	T	0.80761	-0.1238	9	0.87932	D	0	.	7.3842	0.26872	0.0:0.0:1.0:0.0	.	13	C9JAF2	.	S	13	ENSP00000391826:P13S	ENSP00000391826:P13S	P	-	1	0	IGF2	2118066	0.684000	0.27642	0.301000	0.25044	0.098000	0.18820	1.679000	0.37597	1.402000	0.46780	0.479000	0.44913	CCC	-	NULL		0.512	IGF2-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate|CCDS	protein_coding	IGF2	protein_coding	OTTHUMT00000026386.1	G	NM_000612	-		2161490	-1	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	SNP	0.719	A	A	2161490	G	A	2161490	1	1	112	0	1	0	0	0	0	0	0	0	7574	1232	43	2		2	IGF2	11	2161490	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	510099	2161490	132845026	599	8094											
TRPM5	29850	genome.wustl.edu	37	chr11	2432960	2432960	+	Missense_Mutation	SNP	G	G	A													caccatgaagtccatggcgaGgactgtgcggccagcctcaa							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2432960G>A	ENST00000155858.6	-	17	2520	c.2512C>T	c.(2512-2514)Ctc>Ttc	p.L838F	TRPM5_ENST00000452833.1_Missense_Mutation_p.L840F|TRPM5_ENST00000528453.1_Missense_Mutation_p.L838F|TRPM5_ENST00000533060.1_Missense_Mutation_p.L838F	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCATGGCGAGGACTGTGCGG	0.632																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						61	59	60					11																	2432960		2202	4299	6501	TRPM5	SO:0001583	missense	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2512C>T	11.37:g.2432960G>A	ENSP00000155858:p.Leu838Phe	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85		Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.L840F	ENST00000155858.6	37	c.2518	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254356	0.59212	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.28	4.28	0.50868	Ion transport (1);	0.000000	0.64402	D	0.000002	T	0.79003	0.4373	L	0.45228	1.405	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.81914	0.995;0.995;0.919	T	0.81731	-0.0799	10	0.72032	D	0.01	-24.0053	16.0594	0.80830	0.0:0.0:1.0:0.0	.	838;840;838	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	F	832;838;840;838;838;838	ENSP00000434383:L832F;ENSP00000155858:L838F;ENSP00000387965:L840F;ENSP00000434121:L838F;ENSP00000436809:L838F	ENSP00000155858:L838F	L	-	1	0	TRPM5	2389536	1.000000	0.71417	0.376000	0.26042	0.682000	0.39822	3.404000	0.52623	2.120000	0.65058	0.491000	0.48974	CTC	-	NULL		0.632	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	G	NM_014555	-		2432960	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	SNP	0.999	A	A	2432960	G	A	2432960	3	1	112	1	0	0	0	0	1	0	0	0	16596	1000	35	2	1017	2	TRPM5	11	2432960	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	271470	2432960	132573556	600	8095	122	2									
TRPM5	29850	genome.wustl.edu	37	chr11	2432961	2432961	+	Silent	SNP	G	G	A													accatgaagtccatggcgagGactgtgcggccagcctcaaa							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2432961G>A	ENST00000155858.6	-	17	2519	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V	TRPM5_ENST00000452833.1_Silent_p.V839V|TRPM5_ENST00000528453.1_Silent_p.V837V|TRPM5_ENST00000533060.1_Silent_p.V837V	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCATGGCGAGGACTGTGCGGC	0.627																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						61	59	60					11																	2432961		2202	4299	6501	TRPM5	SO:0001819	synonymous_variant	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2511C>T	11.37:g.2432961G>A		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85		Silent	SNP							superfamily_Ankyrin_rpt-contain_dom	p.V839	ENST00000155858.6	37	c.2517	CCDS31340.1	11																																																																																			-	NULL		0.627	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	G	NM_014555	-		2432961	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	silent	SNP	0.769	A	A	2432961	G	A	2432961	2	1	112	1	0	0	0	0	0	0	0	1	16596	1161	41	2		2	TRPM5	11	2432961	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	2432961	132573555	601	8096	122	2									
TRPM5	29850	genome.wustl.edu	37	chr11	2442422	2442422	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcactggtcaggatcCaggctcctgtggggatggaa	18	8	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2442422C>T	ENST00000155858.6	-	3	313	c.305G>A	c.(304-306)tGg>tAg	p.W102*	TRPM5_ENST00000452833.1_Nonsense_Mutation_p.W102*|TRPM5_ENST00000528453.1_Nonsense_Mutation_p.W102*|TRPM5_ENST00000533060.1_Nonsense_Mutation_p.W102*	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTCAGGATCCAGGCTCCTGT	0.687																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						7	7	7					11																	2442422		2007	3923	5930	TRPM5	SO:0001587	stop_gained	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.305G>A	11.37:g.2442422C>T	ENSP00000155858:p.Trp102*	Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	35	60.23		Nonsense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.W102*	ENST00000155858.6	37	c.305	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.213147	0.95069	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	.	.	.	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2033	13.1225	0.59336	0.0:1.0:0.0:0.0	.	.	.	.	X	94;102;102;102;102;102	.	ENSP00000155858:W102X	W	-	2	0	TRPM5	2398998	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.957000	0.76019	1.943000	0.56356	0.491000	0.48974	TGG	-	NULL		0.687	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	C	NM_014555	-		2442422	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	2442422	C	T	2442422	4	4	112	1	0	0	0	0	0	1	0	0	16596	595	21	2	3280	2	TRPM5	11	2442422	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9461	2442422	132564094	602	8097											
OR51A7	119687	genome.wustl.edu	37	chr11	4929472	4929472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgaaccccattgtgtaCtgtgtaaagactcgacaaat	7	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:4929472C>T	ENST00000359350.4	+	1	873	c.873C>T	c.(871-873)taC>taT	p.Y291Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	291						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)		CCATTGTGTACTGTGTAAAGA	0.418																																																	0								ENSG00000176895						135	127	130					11																	4929472		2201	4298	6499	OR51A7	SO:0001819	synonymous_variant	0			-	HGNC	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.873C>T	11.37:g.4929472C>T		Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	13.85	Q6IFH8	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Y291	ENST00000359350.4	37	c.873	CCDS31364.1	11																																																																																			-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	protein_coding	OTTHUMT00000142175.1	C	NM_001004749	-		4929472	1	no_errors	ENST00000359350	ensembl	human	known	74_37	silent	SNP	0.982	T	T	4929472	C	T	4929472	2	4	112	1	0	0	0	0	0	0	0	1	11090	576	20	2		2	OR51A7	11	4929472	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2487050	4929472	130077044	603	8098											
OR51G2	81282	genome.wustl.edu	37	chr11	4936114	4936114	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggatgacagagaggccaatCatgggagtgtagaagagcag	16	5	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:4936114C>T	ENST00000322013.3	-	1	808	c.780G>A	c.(778-780)atG>atA	p.M260I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		AGAGGCCAATCATGGGAGTGT	0.537																																																	0								ENSG00000176893						147	127	134					11																	4936114		2201	4298	6499	OR51G2	SO:0001583	missense	0			-	HGNC	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.780G>A	11.37:g.4936114C>T	ENSP00000322593:p.Met260Ile	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	Q6IFH7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M260I	ENST00000322013.3	37	c.780	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415940	0.25552	.	.	ENSG00000176893	ENST00000322013	T	0.35605	1.3	5.48	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.29491	0.0735	L	0.43923	1.385	0.28771	N	0.900353	B	0.27932	0.194	B	0.33196	0.159	T	0.09618	-1.0666	10	0.25106	T	0.35	.	8.2908	0.31956	0.0:0.6623:0.2557:0.082	.	260	Q8NGK0	O51G2_HUMAN	I	260	ENSP00000322593:M260I	ENSP00000322593:M260I	M	-	3	0	OR51G2	4892690	0.000000	0.05858	1.000000	0.80357	0.926000	0.56050	-0.994000	0.03716	2.848000	0.98002	0.655000	0.94253	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	protein_coding	OTTHUMT00000142174.1	C	NM_001005238	-		4936114	-1	no_errors	ENST00000322013	ensembl	human	known	74_37	missense	SNP	0.931	T	T	4936114	C	T	4936114	3	4	112	1	0	0	0	0	1	0	0	0	11101	826	29	2	168	2	OR51G2	11	4936114	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6642	4936114	130070402	604	8099											
OR51A4	401666	genome.wustl.edu	37	chr11	4967671	4967671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacagtcttgaggatcagGgtgtaagacacagcaatgag	13	6	2	3	rs147755934		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:4967671G>A	ENST00000380373.2	-	1	685	c.660C>T	c.(658-660)acC>acT	p.T220T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGGATCAGGGTGTAAGACA	0.423																																																	0								ENSG00000205497	G		1,4399	2.1+/-5.4	0,1,2199	87	76	80		660	-6.9	0	11	dbSNP_134	80	0,8588		0,0,4294	no	coding-synonymous	OR51A4	NM_001005329.1		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		220/314	4967671	1,12987	2200	4294	6494	OR51A4	SO:0001819	synonymous_variant	0			-	HGNC	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.660C>T	11.37:g.4967671G>A		Somatic	1	171	0.58		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	65	47.15		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T220	ENST00000380373.2	37	c.660	CCDS31367.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	protein_coding	OTTHUMT00000142821.1	G	NM_001005329	rs147755934		4967671	-1	no_errors	ENST00000380373	ensembl	human	known	74_37	silent	SNP	0.000	A	A	4967671	G	A	4967671	2	1	112	1	0	0	0	0	0	0	0	1	11089	1219	43	2		2	OR51A4	11	4967671	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	31557	4967671	130038845	605	8100											
OR52E2	119678	genome.wustl.edu	37	chr11	5080598	5080598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctctgaggttgatccagAagattccaagcatcttaggg	10	10	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:5080598A>G	ENST00000321522.2	-	1	259	c.260T>C	c.(259-261)tTc>tCc	p.F87S		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTGATCCAGAAGATTCCAAG	0.498																																																	0								ENSG00000176787						90	82	85					11																	5080598		2201	4298	6499	OR52E2	SO:0001583	missense	0			-	HGNC	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.260T>C	11.37:g.5080598A>G	ENSP00000322088:p.Phe87Ser	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	25	46.81		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F87S	ENST00000321522.2	37	c.260	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767767	0.49574	.	.	ENSG00000176787	ENST00000321522	T	0.00327	8.09	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00754	0.0025	M	0.79693	2.465	0.41275	D	0.986872	D	0.89917	1.0	D	0.73380	0.98	T	0.71889	-0.4456	10	0.87932	D	0	.	12.3546	0.55167	1.0:0.0:0.0:0.0	.	87	Q8NGJ4	O52E2_HUMAN	S	87	ENSP00000322088:F87S	ENSP00000322088:F87S	F	-	2	0	OR52E2	5037174	0.010000	0.17322	0.999000	0.59377	0.193000	0.23685	1.538000	0.36094	1.966000	0.57179	0.529000	0.55759	TTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	protein_coding	OTTHUMT00000142815.1	A	NM_001005164	-		5080598	-1	no_errors	ENST00000321522	ensembl	human	known	74_37	missense	SNP	1.000	G	G	5080598	A	G	5080598	3	3	112	1	0	0	0	0	1	0	0	0	11117	246	9	5	720	5	OR52E2	11	5080598	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	112927	5080598	129925918	606	8101											
OR52E6	390078	genome.wustl.edu	37	chr11	5862326	5862326	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggatatattggggaatatCatggccaaagcagtgtgtaa	13	4	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:5862326C>T	ENST00000329322.5	-	1	801	c.802G>A	c.(802-804)Gat>Aat	p.D268N	OR52E6_ENST00000379946.2_Missense_Mutation_p.D272N|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	268						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(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGAATATCATGGCCAAAG	0.413																																																	0								ENSG00000205409						82	85	84					11																	5862326		2164	4281	6445	OR52E6	SO:0001583	missense	0			-	HGNC	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.802G>A	11.37:g.5862326C>T	ENSP00000328878:p.Asp268Asn	Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q6IFF8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D272N	ENST00000329322.5	37	c.814	CCDS53597.1	11	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.973499	0.00048	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00084	8.75;8.75	3.45	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.335377	0.25236	N	0.032139	T	0.00039	0.0001	N	0.00112	-2.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47736	-0.9094	10	0.02654	T	1	.	0.9132	0.01299	0.1897:0.1166:0.1952:0.4986	.	268	Q96RD3	O52E6_HUMAN	N	268;272	ENSP00000328878:D268N;ENSP00000369279:D272N	ENSP00000328878:D268N	D	-	1	0	OR52E6	5818902	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.090000	0.11163	0.400000	0.25396	-0.472000	0.04984	GAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E6	protein_coding	OTTHUMT00000401144.1	C	NM_001005167	-		5862326	-1	no_errors	ENST00000379946	ensembl	human	known	74_37	missense	SNP	0.000	T	T	5862326	C	T	5862326	3	4	112	1	0	0	0	0	1	0	0	0	11119	826	29	2	141	2	OR52E6	11	5862326	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	781728	5862326	129144190	607	8102											
OR6A2	8590	genome.wustl.edu	37	chr11	6816613	6816613	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtgcagcccaagccaagGaaaaagtagagctgtgtcat	11	9	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:6816613G>A	ENST00000332601.3	-	1	515	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	109					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)			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)		CCAAGCCAAGGAAAAAGTAGA	0.488																																																	0								ENSG00000184933						118	114	116					11																	6816613		2201	4296	6497	OR6A2	SO:0001819	synonymous_variant	0			-	HGNC	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.327C>T	11.37:g.6816613G>A		Somatic	0	25	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	11	60.71	Q3MJC7|Q6IF35|Q9H206	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F109	ENST00000332601.3	37	c.327	CCDS7772.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	protein_coding	OTTHUMT00000385981.1	G	NM_003696	-		6816613	-1	no_errors	ENST00000332601	ensembl	human	known	74_37	silent	SNP	0.497	A	A	6816613	G	A	6816613	2	1	112	1	0	0	0	0	0	0	0	1	11188	1165	41	2		2	OR6A2	11	6816613	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	954287	6816613	128189903	608	8103											
OVCH2	341277	genome.wustl.edu	37	chr11	7723023	7723023	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgtgagaggacgccacCtgaaaaacagagagatggaa	13	7	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:7723023C>T	ENST00000534193.2	-	0	586				OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AGGACGCCACCTGAAAAACAG	0.473																																																	0								ENSG00000183378						25	25	25					11																	7723023		1927	4139	6066	OVCH2			0			-	HGNC	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7723023C>T		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12		Splice_Site	SNP							-	e6-1	ENST00000534193.2	37	c.560-1		11	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670575	0.29693	.	.	ENSG00000183378	ENST00000454689	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9888	0.86348	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OVCH2	7679599	1.000000	0.71417	0.966000	0.40874	0.100000	0.18952	5.192000	0.65115	2.629000	0.89072	0.650000	0.86243	.	-	-		0.473	OVCH2-001	KNOWN	non_canonical_polymorphism|not_organism_supported|basic	polymorphic_pseudogene	OVCH2	polymorphic_pseudogene	OTTHUMT00000383929.7	C	NM_198185	-		7723023	-1	no_errors	ENST00000454689	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	7723023	C	T	7723023	1	4	112	0	1	0	0	0	0	0	0	0	11326	695	24	2		2	OVCH2	11	7723023	RNA	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	906410	7723023	127283493	609	8104											
OR10A3	26496	genome.wustl.edu	37	chr11	7960409	7960409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaggatggcaaacagaactCgaatgtaagacaagaggatc	11	7	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:7960409C>T	ENST00000360759.3	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	220					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)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAACAGAACTCGAATGTAAGA	0.448																																																	0								ENSG00000170683						112	100	104					11																	7960409		2201	4296	6497	OR10A3	SO:0001583	missense	0			-	HGNC	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.659G>A	11.37:g.7960409C>T	ENSP00000353988:p.Arg220Gln	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	44	38.03	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R220Q	ENST00000360759.3	37	c.659	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408988	0.11812	.	.	ENSG00000170683	ENST00000360759	T	0.00031	8.89	4.95	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.540328	0.13970	N	0.350206	T	0.00109	0.0003	L	0.41356	1.27	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.20405	-1.0276	10	0.31617	T	0.26	.	4.2014	0.10467	0.1837:0.6294:0.0:0.1869	.	220	P58181	O10A3_HUMAN	Q	220	ENSP00000353988:R220Q	ENSP00000353988:R220Q	R	-	2	0	OR10A3	7916985	0.000000	0.05858	0.884000	0.34674	0.004000	0.04260	-1.405000	0.02492	1.458000	0.47871	-0.157000	0.13467	CGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	protein_coding	OTTHUMT00000385704.1	C	NM_001003745	-		7960409	-1	no_errors	ENST00000360759	ensembl	human	known	74_37	missense	SNP	0.000	T	T	7960409	C	T	7960409	3	4	112	1	0	0	0	0	1	0	0	0	10893	884	31	1	288	1	OR10A3	11	7960409	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	237386	7960409	127046107	610	8105											
ABCC8	6833	genome.wustl.edu	37	chr11	17429953	17429953	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaccttctccagctcttGgtcctgtcggttcatgaggg	10	14	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:17429953G>A	ENST00000389817.3	-	23	2874	c.2806C>T	c.(2806-2808)Caa>Taa	p.Q936*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.Q937*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	936					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCCAGCTCTTGGTCCTGTCGG	0.542																																																	0								ENSG00000006071						98	90	93					11																	17429953		2200	4293	6493	ABCC8	SO:0001587	stop_gained	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2806C>T	11.37:g.17429953G>A	ENSP00000374467:p.Gln936*	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	17	54.05	A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q937*	ENST00000389817.3	37	c.2809	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.898485	0.98994	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	.	.	.	X	936;937;940	.	ENSP00000303960:Q937X	Q	-	1	0	ABCC8	17386529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.154000	0.71826	2.873000	0.98535	0.563000	0.77884	CAA	-	NULL		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	G	NM_000352	-		17429953	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	17429953	G	A	17429953	4	1	112	1	0	0	0	0	0	1	0	0	58	1357	47	2	2007	2	ABCC8	11	17429953	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	9469544	17429953	117576563	611	8106											
ABCC8	6833	genome.wustl.edu	37	chr11	17449462	17449462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtggggattccatctgGggtccacgtgaagtagcctc	14	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:17449462G>A	ENST00000389817.3	-	15	2136	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	ABCC8_ENST00000302539.4_Missense_Mutation_p.P690S|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	690	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ATTCCATCTGGGGTCCACGTG	0.567																																																	0								ENSG00000006071						173	134	147					11																	17449462		2200	4293	6493	ABCC8	SO:0001583	missense	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2068C>T	11.37:g.17449462G>A	ENSP00000374467:p.Pro690Ser	Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P690S	ENST00000389817.3	37	c.2068	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695078	0.30052	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89939	-2.59;-2.59	5.3	3.07	0.35406	ABC transporter-like (1);	0.287457	0.30649	N	0.009177	T	0.76033	0.3931	N	0.05574	-0.02	0.35660	D	0.812498	B	0.02656	0.0	B	0.04013	0.001	T	0.73110	-0.4086	10	0.27082	T	0.32	.	11.8897	0.52622	0.1744:0.0:0.8256:0.0	.	690	Q09428	ABCC8_HUMAN	S	690;690;694	ENSP00000374467:P690S;ENSP00000303960:P690S	ENSP00000303960:P690S	P	-	1	0	ABCC8	17406038	1.000000	0.71417	0.979000	0.43373	0.932000	0.56968	3.843000	0.55865	1.230000	0.43646	0.561000	0.74099	CCA	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.567	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	G	NM_000352	-		17449462	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	SNP	0.777	A	A	17449462	G	A	17449462	3	1	112	1	0	0	0	0	1	0	0	0	58	1232	43	2	2777	2	ABCC8	11	17449462	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	19509	17449462	117557054	612	8107											
USH1C	10083	genome.wustl.edu	37	chr11	17537820	17537820	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaatttgccatcgtaacGataaaaccatccaaaagcta	7	9	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:17537820G>A	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.R410C|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCATCGTAACGATAAAACCAT	0.493																																																	0								ENSG00000006611						168	134	146					11																	17537820		2200	4293	6493	USH1C	SO:0001627	intron_variant	0			-	HGNC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+1127C>T	11.37:g.17537820G>A		Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	105	12.50	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R410C	ENST00000318024.4	37	c.1228	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897506	0.91962	.	.	ENSG00000006611	ENST00000005226	T	0.65732	-0.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	.	.	.	0.54753	D	0.999989	D	0.89917	1.0	D	0.68621	0.959	T	0.80765	-0.1236	9	0.87932	D	0	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	410	Q7RTU8	.	C	410	ENSP00000005226:R410C	ENSP00000005226:R410C	R	-	1	0	USH1C	17494396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.373000	0.73128	2.941000	0.99782	0.655000	0.94253	CGT	-	NULL		0.493	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	protein_coding	OTTHUMT00000389146.1	G	NM_005709	-		17537820	-1	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17537820	G	A	17537820	1	1	112	0	1	0	0	0	0	0	0	0	17041	1058	37	1		1	USH1C	11	17537820	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	88358	17537820	117468696	613	8108											
SLC17A6	57084	genome.wustl.edu	37	chr11	22397615	22397615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcttggtacttgcagtggGattcagtggatttgctatat	11	5	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:22397615G>A	ENST00000263160.3	+	10	1699	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	421					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTGCAGTGGGATTCAGTGGA	0.393																																																	0								ENSG00000091664						159	165	163					11																	22397615		2203	4300	6503	SLC17A6	SO:0001583	missense	0			-	HGNC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1262G>A	11.37:g.22397615G>A	ENSP00000263160:p.Gly421Glu	Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	70	10.26	A6NKS2	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G421E	ENST00000263160.3	37	c.1262	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.429978	0.96131	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58210	0.35	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	H	0.95917	3.74	0.80722	D	1	D	0.56521	0.976	D	0.67548	0.952	D	0.86435	0.1763	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	421	Q9P2U8	VGLU2_HUMAN	E	421;309	ENSP00000263160:G421E	ENSP00000263160:G421E	G	+	2	0	SLC17A6	22354191	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.867000	0.99620	2.941000	0.99782	0.655000	0.94253	GGA	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	protein_coding	OTTHUMT00000387671.1	G	NM_020346	-		22397615	1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22397615	G	A	22397615	3	1	112	1	0	0	0	0	1	0	0	0	14429	1174	41	2	1300	2	SLC17A6	11	22397615	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4859795	22397615	112608901	614	8109											
BBOX1	8424	genome.wustl.edu	37	chr11	27114883	27114883	+	Missense_Mutation	SNP	G	G	A													agtttcaaaacttgggaaaaGgatgggtttcctctatctca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:27114883G>A	ENST00000529202.1	+	4	842	c.503G>A	c.(502-504)aGg>aAg	p.R168K	BBOX1_ENST00000525090.1_Missense_Mutation_p.R168K|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R168K|BBOX1_ENST00000263182.3_Missense_Mutation_p.R168K			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	168					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTTGGGAAAAGGATGGGTTTC	0.443																																																	0								ENSG00000129151						103	105	104					11																	27114883		2202	4299	6501	BBOX1	SO:0001583	missense	0			-	HGNC	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.503G>A	11.37:g.27114883G>A	ENSP00000435781:p.Arg168Lys	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP							pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.R168K	ENST00000529202.1	37	c.503	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367547	0.61513	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.53	5.53	0.82687	.	0.039886	0.85682	N	0.000000	D	0.82724	0.5099	M	0.68317	2.08	0.80722	D	1	P	0.35872	0.525	B	0.37015	0.239	T	0.82184	-0.0583	10	0.39692	T	0.17	.	16.9617	0.86273	0.0:0.0:1.0:0.0	.	168	O75936	BODG_HUMAN	K	168	ENSP00000435781:R168K;ENSP00000263182:R168K;ENSP00000434918:R168K;ENSP00000433772:R168K	ENSP00000263182:R168K	R	+	2	0	BBOX1	27071459	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.047000	0.64232	2.582000	0.87167	0.650000	0.86243	AGG	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.443	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	protein_coding	OTTHUMT00000387946.1	G	NM_003986	-		27114883	1	no_errors	ENST00000263182	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27114883	G	A	27114883	3	1	112	1	0	0	0	0	1	0	0	0	1334	1000	35	2	513	2	BBOX1	11	27114883	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4717268	27114883	107891633	615	8110	123	2									
BBOX1	8424	genome.wustl.edu	37	chr11	27114884	27114884	+	Silent	SNP	G	G	A													gtttcaaaacttgggaaaagGatgggtttcctctatctcac							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:27114884G>A	ENST00000529202.1	+	4	843	c.504G>A	c.(502-504)agG>agA	p.R168R	BBOX1_ENST00000525090.1_Silent_p.R168R|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Silent_p.R168R|BBOX1_ENST00000263182.3_Silent_p.R168R			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	168					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TTGGGAAAAGGATGGGTTTCC	0.443																																																	0								ENSG00000129151						102	105	104					11																	27114884		2202	4299	6501	BBOX1	SO:0001819	synonymous_variant	0			-	HGNC	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.504G>A	11.37:g.27114884G>A		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP							pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.R168	ENST00000529202.1	37	c.504	CCDS7862.1	11																																																																																			-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.443	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	protein_coding	OTTHUMT00000387946.1	G	NM_003986	-		27114884	1	no_errors	ENST00000263182	ensembl	human	known	74_37	silent	SNP	0.996	A	A	27114884	G	A	27114884	2	1	112	1	0	0	0	0	0	0	0	1	1334	1165	41	2		2	BBOX1	11	27114884	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	27114884	107891632	616	8111	123	2									
CCDC34	91057	genome.wustl.edu	37	chr11	27362242	27362242	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacaacataaaaaccaaCctgtaagttttccattggca	4	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:27362242C>T	ENST00000328697.6	-	5	1581		c.e5+1		CCDC34_ENST00000529615.1_Splice_Site	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34											endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TAAAAACCAACCTGTAAGTTT	0.323																																																	0								ENSG00000109881						169	157	161					11																	27362242		2202	4299	6501	CCDC34	SO:0001630	splice_region_variant	0			-	HGNC	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.907+1G>A	11.37:g.27362242C>T		Somatic	0	99	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	46	48.89	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Splice_Site	SNP							-	e5+1	ENST00000328697.6	37	c.907+1	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105668	0.77096	.	.	ENSG00000109881	ENST00000328697	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC34	27318818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.416000	0.66417	2.885000	0.99019	0.655000	0.94253	.	-	-		0.323	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	protein_coding	OTTHUMT00000388396.2	C	NM_030771	-	Intron	27362242	-1	no_errors	ENST00000328697	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	27362242	C	T	27362242	5	4	112	1	0	0	0	0	0	0	1	0	2809	521	18	2	221	2	CCDC34	11	27362242	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	247358	27362242	107644274	617	8112											
TRAF6	7189	genome.wustl.edu	37	chr11	36511818	36511818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccgggtttgccagtgtagAatccagggctatgaatcaca	11	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:36511818A>T	ENST00000526995.1	-	7	1385	c.1139T>A	c.(1138-1140)tTc>tAc	p.F380Y	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.F380Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	380	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCCAGTGTAGAATCCAGGGCT	0.443																																																	0								ENSG00000175104						118	117	117					11																	36511818		2202	4298	6500	TRAF6	SO:0001583	missense	0			-	HGNC		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1139T>A	11.37:g.36511818A>T	ENSP00000433623:p.Phe380Tyr	Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP							pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.F380Y	ENST00000526995.1	37	c.1139	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866153	0.91511	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.50001	0.76;0.76	5.35	5.35	0.76521	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83650	0.0155	10	0.87932	D	0	-21.8257	15.6115	0.76721	1.0:0.0:0.0:0.0	.	380	Q9Y4K3	TRAF6_HUMAN	Y	380	ENSP00000433623:F380Y;ENSP00000337853:F380Y	ENSP00000337853:F380Y	F	-	2	0	TRAF6	36468394	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.283000	0.95860	2.146000	0.66826	0.454000	0.30748	TTC	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.443	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	protein_coding	OTTHUMT00000389530.1	A	NM_145803	-		36511818	-1	no_errors	ENST00000348124	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36511818	A	T	36511818	3	4	112	1	0	0	0	0	1	0	0	0	16452	246	9	5	433	5	TRAF6	11	36511818	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	9149576	36511818	98494698	618	8113											
MADD	8567	genome.wustl.edu	37	chr11	47303157	47303157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagtctcaacacccagcCcatcctcaatctggagaaat	6	14	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:47303157C>T	ENST00000311027.5	+	8	1487	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L	MADD_ENST00000402192.2_Missense_Mutation_p.P441L|MADD_ENST00000395336.3_Missense_Mutation_p.P441L|MADD_ENST00000407859.3_Missense_Mutation_p.P441L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000349238.3_Missense_Mutation_p.P441L|MADD_ENST00000395344.3_Missense_Mutation_p.P441L|MADD_ENST00000402799.1_Missense_Mutation_p.P441L|MADD_ENST00000406482.1_Missense_Mutation_p.P441L|MADD_ENST00000342922.4_Missense_Mutation_p.P441L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AACACCCAGCCCATCCTCAAT	0.512																																																	0								ENSG00000110514						105	91	96					11																	47303157		2201	4298	6499	MADD	SO:0001583	missense	0			-	HGNC	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1322C>T	11.37:g.47303157C>T	ENSP00000310933:p.Pro441Leu	Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	27	58.46		Missense_Mutation	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P441L	ENST00000311027.5	37	c.1322	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.144372	0.94603	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06687	3.39;3.28;3.28;3.38;3.38;3.27;3.28;3.38;3.39	5.94	5.94	0.96194	.	0.051306	0.85682	D	0.000000	T	0.20659	0.0497	L	0.27053	0.805	0.80722	D	1	P;P;P;D;P;P;P;D;D;D	0.89917	0.756;0.949;0.845;0.999;0.935;0.94;0.904;1.0;0.991;0.995	B;P;P;D;P;P;P;D;P;D	0.91635	0.283;0.632;0.64;0.973;0.839;0.583;0.754;0.999;0.874;0.941	T	0.00701	-1.1603	10	0.49607	T	0.09	-14.3038	20.3633	0.98874	0.0:1.0:0.0:0.0	.	441;441;441;441;441;441;441;441;441;441	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	441	ENSP00000343902:P441L;ENSP00000385585:P441L;ENSP00000384435:P441L;ENSP00000304505:P441L;ENSP00000310933:P441L;ENSP00000384204:P441L;ENSP00000378753:P441L;ENSP00000378745:P441L;ENSP00000384287:P441L	ENSP00000310933:P441L	P	+	2	0	MADD	47259733	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.407000	0.80029	2.826000	0.97356	0.561000	0.74099	CCC	-	NULL		0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	protein_coding	OTTHUMT00000317746.1	C		-		47303157	1	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47303157	C	T	47303157	3	4	112	1	0	0	0	0	1	0	0	0	9154	623	22	2	1348	2	MADD	11	47303157	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10791339	47303157	87703359	619	8114											
SLC39A13	91252	genome.wustl.edu	37	chr11	47436601	47436601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtacccagttgggtgttctCccgctgcagaggagacggca	15	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:47436601C>T	ENST00000362021.4	+	9	973	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	SLC39A13_ENST00000524928.1_3'UTR|SLC39A13_ENST00000533076.1_Intron|SLC39A13_ENST00000354884.4_Intron	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	311					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGGGTGTTCTCCCGCTGCAGA	0.637																																																	0								ENSG00000165915						49	49	49					11																	47436601		2201	4298	6499	SLC39A13	SO:0001583	missense	0			-	HGNC		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"Solute carriers"	20859	protein-coding gene	gene with protein product		608735	"solute carrier family 39 (metal ion transporter), member 13"			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.931C>T	11.37:g.47436601C>T	ENSP00000354689:p.Pro311Ser	Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	5	77.27	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP							pfam_ZIP	p.P311S	ENST00000362021.4	37	c.931	CCDS44592.1	11	.	.	.	.	.	.	.	.	.	.	C	3.654	-0.070868	0.07228	.	.	ENSG00000165915	ENST00000362021	T	0.46063	0.88	5.38	3.5	0.40072	.	.	.	.	.	T	0.13670	0.0331	N	0.00980	-1.08	0.18873	N	0.999985	B	0.16396	0.017	B	0.22880	0.042	T	0.31888	-0.9927	9	0.07482	T	0.82	.	7.4453	0.27207	0.0:0.7413:0.1679:0.0908	.	311	Q96H72	S39AD_HUMAN	S	311	ENSP00000354689:P311S	ENSP00000354689:P311S	P	+	1	0	SLC39A13	47393177	0.016000	0.18221	0.005000	0.12908	0.162000	0.22319	0.804000	0.27098	0.638000	0.30545	0.462000	0.41574	CCC	-	pfam_ZIP		0.637	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	SLC39A13	protein_coding	OTTHUMT00000395652.1	C	NM_152264	-		47436601	1	no_errors	ENST00000362021	ensembl	human	known	74_37	missense	SNP	0.018	T	T	47436601	C	T	47436601	3	4	112	1	0	0	0	0	1	0	0	0	14624	855	30	2	961	2	SLC39A13	11	47436601	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	133444	47436601	87569915	620	8115											
OR4C46	119749	genome.wustl.edu	37	chr11	51515496	51515496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttattgatgcctgctattCctctgtcaatacccctaacc	4	14	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:51515496C>T	ENST00000328188.1	+	1	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTGCTATTCCTCTGTCAAT	0.473																																																	0								ENSG00000185926						226	211	216					11																	51515496		2201	4296	6497	OR4C46	SO:0001583	missense	0			-	HGNC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.215C>T	11.37:g.51515496C>T	ENSP00000329056:p.Ser72Phe	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	12	72.73		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72F	ENST00000328188.1	37	c.215	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	9.787	1.176763	0.21704	.	.	ENSG00000185926	ENST00000328188	T	0.00840	5.63	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.167551	0.28641	N	0.014632	T	0.08044	0.0201	H	0.96518	3.835	0.20074	N	0.999935	D	0.65815	0.995	D	0.70227	0.968	T	0.03910	-1.0993	10	0.87932	D	0	.	11.1303	0.48343	0.0:1.0:0.0:0.0	.	72	A6NHA9	O4C46_HUMAN	F	72	ENSP00000329056:S72F	ENSP00000329056:S72F	S	+	2	0	OR4C46	51372072	0.205000	0.23458	0.056000	0.19401	0.021000	0.10359	3.222000	0.51223	1.513000	0.48852	0.134000	0.15878	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	protein_coding	OTTHUMT00000391155.1	C	NM_001004703	-		51515496	1	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	SNP	0.401	T	T	51515496	C	T	51515496	3	4	112	1	0	0	0	0	1	0	0	0	11053	855	30	2	217	2	OR4C46	11	51515496	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4078895	51515496	83491020	621	8116											
OR4A15	81328	genome.wustl.edu	37	chr11	55135651	55135651	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcttctttatcattcataGataccgtctattctactgca	5	10	5	1	rs370541816		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:55135651G>A	ENST00000314706.3	+	1	292	c.292G>A	c.(292-294)Gat>Aat	p.D98N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	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)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCATTCATAGATACCGTCTA	0.428																																																	0								ENSG00000181958	G	ASN/ASP	0,4402		0,0,2201	125	122	123		292	3.5	0	11		123	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR4A15	NM_001005275.1	23	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	98/345	55135651	1,12993	2201	4296	6497	OR4A15	SO:0001583	missense	0			-	HGNC	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.292G>A	11.37:g.55135651G>A	ENSP00000325065:p.Asp98Asn	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	32	50.00	Q6IFL4|Q96R65	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D98N	ENST00000314706.3	37	c.292	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	g	19.73	3.881597	0.72294	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.01165	5.24	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.09024	0.0223	H	0.95043	3.615	0.09310	N	1	D	0.67145	0.996	P	0.62382	0.901	T	0.06006	-1.0851	10	0.87932	D	0	.	12.5491	0.56216	0.0:0.0:1.0:0.0	.	98	Q8NGL6	O4A15_HUMAN	N	98	ENSP00000325065:D98N	ENSP00000325065:D98N	D	+	1	0	OR4A15	54892227	0.145000	0.22656	0.014000	0.15608	0.653000	0.38743	1.505000	0.35736	1.785000	0.52413	0.492000	0.49549	GAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	protein_coding	OTTHUMT00000391161.1	G	NM_001005275	-		55135651	1	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	SNP	0.005	A	A	55135651	G	A	55135651	3	1	112	1	0	0	0	0	1	0	0	0	11042	942	33	2	294	2	OR4A15	11	55135651	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3620155	55135651	79870865	622	8117											
OR5D18	219438	genome.wustl.edu	37	chr11	55587118	55587118	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaagcgatgctgctgactGatagaaatacaagtgggacc	12	8	0	4	rs549739521		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:55587118G>A	ENST00000333976.4	+	1	33	c.13G>A	c.(13-15)Gat>Aat	p.D5N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	5						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(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCTGCTGACTGATAGAAATAC	0.413																																																	0								ENSG00000186119						83	78	80					11																	55587118		2200	4296	6496	OR5D18	SO:0001583	missense	0			-	HGNC	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.13G>A	11.37:g.55587118G>A	ENSP00000335025:p.Asp5Asn	Somatic	0	17	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D5N	ENST00000333976.4	37	c.13	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	g	11.50	1.656629	0.29425	.	.	ENSG00000186119	ENST00000333976	T	0.00301	8.21	4.65	1.64	0.23874	.	2.024200	0.02747	N	0.116995	T	0.00109	0.0003	N	0.03930	-0.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26643	-1.0097	10	0.37606	T	0.19	8.3754	4.3618	0.11206	0.2765:0.1675:0.556:0.0	.	5	Q8NGL1	OR5DI_HUMAN	N	5	ENSP00000335025:D5N	ENSP00000335025:D5N	D	+	1	0	OR5D18	55343694	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.903000	0.04084	0.281000	0.22233	0.632000	0.83419	GAT	-	NULL		0.413	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	protein_coding	OTTHUMT00000391515.1	G	NM_001001952	-		55587118	1	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55587118	G	A	55587118	3	1	112	1	0	0	0	0	1	0	0	0	11159	1290	45	2	15	2	OR5D18	11	55587118	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	451467	55587118	79419398	623	8118											
UBE2L6	9246	genome.wustl.edu	37	chr11	57327819	57327819	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatactcacgggtaggagGagagcgtgccacaccaggac	15	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:57327819G>A	ENST00000287156.4	-	2	309	c.114C>T	c.(112-114)ctC>ctT	p.L38L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	38					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						CGGGTAGGAGGAGAGCGTGCC	0.572																																																	0								ENSG00000156587						203	168	180					11																	57327819		2201	4296	6497	UBE2L6	SO:0001819	synonymous_variant	0			-	HGNC	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"Ubiquitin-conjugating enzymes E2"	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.114C>T	11.37:g.57327819G>A		Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP							pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L38	ENST00000287156.4	37	c.114	CCDS7960.1	11																																																																																			-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.572	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	protein_coding	OTTHUMT00000392657.1	G	NM_004223	-		57327819	-1	no_errors	ENST00000287156	ensembl	human	known	74_37	silent	SNP	0.988	A	A	57327819	G	A	57327819	2	1	112	1	0	0	0	0	0	0	0	1	16871	1161	41	2		2	UBE2L6	11	57327819	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1740701	57327819	77678697	624	8119											
VWCE	220001	genome.wustl.edu	37	chr11	61026600	61026600	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgtgttttcatcaagttCgttcttaaaaggagctggag	11	6	4	0	rs148487281		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:61026600C>T	ENST00000335613.5	-	20	2801	c.2415G>A	c.(2413-2415)acG>acA	p.T805T	VWCE_ENST00000535710.1_Silent_p.T270T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	805						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						TCATCAAGTTCGTTCTTAAAA	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		18624	0		0	False		,,,				2504	0																0								ENSG00000167992	C		1,4405	2.1+/-5.4	0,1,2202	53	54	54		2415	-9.4	0	11	dbSNP_134	54	0,8598		0,0,4299	no	coding-synonymous	VWCE	NM_152718.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		805/956	61026600	1,13003	2203	4299	6502	VWCE	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.2415G>A	11.37:g.61026600C>T		Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	45	53.61	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP							pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.T805	ENST00000335613.5	37	c.2415	CCDS8002.1	11																																																																																			-	NULL		0.577	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	protein_coding	OTTHUMT00000398811.1	C	NM_152718	rs148487281		61026600	-1	no_errors	ENST00000335613	ensembl	human	known	74_37	silent	SNP	0.000	T	T	61026600	C	T	61026600	2	4	112	1	0	0	0	0	0	0	0	1	17252	871	31	1		1	VWCE	11	61026600	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3698781	61026600	73979916	625	8120											
DAGLA	747	genome.wustl.edu	37	chr11	61490358	61490358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatcgagttcatctacgCcatcgtgggcatcgtctggc	13	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:61490358C>T	ENST00000257215.5	+	4	451	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	112					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)		TTCATCTACGCCATCGTGGGC	0.602																																																	0								ENSG00000134780						252	165	195					11																	61490358		2202	4299	6501	DAGLA	SO:0001583	missense	0			-	HGNC	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.335C>T	11.37:g.61490358C>T	ENSP00000257215:p.Ala112Val	Somatic	0	28	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	11	56.00	A7E233|Q6WQJ0	Missense_Mutation	SNP							pfam_Lipase_3	p.A112V	ENST00000257215.5	37	c.335	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950874	0.92660	.	.	ENSG00000134780	ENST00000257215	T	0.25912	1.77	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.25606	-1.0127	10	0.33940	T	0.23	-34.7652	18.3372	0.90293	0.0:1.0:0.0:0.0	.	112	Q9Y4D2	DGLA_HUMAN	V	112	ENSP00000257215:A112V	ENSP00000257215:A112V	A	+	2	0	DAGLA	61246934	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.069000	0.76755	2.421000	0.82119	0.561000	0.74099	GCC	-	NULL		0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	C	NM_006133	-		61490358	1	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61490358	C	T	61490358	3	4	112	1	0	0	0	0	1	0	0	0	4228	739	26	2	345	2	DAGLA	11	61490358	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	463758	61490358	73516158	626	8121											
LGALS12	85329	genome.wustl.edu	37	chr11	63277347	63277347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacatcctggtagaggCtgttggattcctgaacatca	12	8	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:63277347C>T	ENST00000394618.3	+	4	827	c.536C>T	c.(535-537)gCt>gTt	p.A179V	LGALS12_ENST00000255684.5_Missense_Mutation_p.A179V|LGALS12_ENST00000340246.5_Missense_Mutation_p.A180V|LGALS12_ENST00000425950.2_Missense_Mutation_p.A118V|LGALS12_ENST00000415491.2_Missense_Mutation_p.A118V	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	179	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGGTAGAGGCTGTTGGATTC	0.552																																																	0								ENSG00000133317						137	115	122					11																	63277347		2201	4298	6499	LGALS12	SO:0001583	missense	0			-	HGNC	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"Lectins, galactoside-binding"	15788	protein-coding gene	gene with protein product	"galectin 12"	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.536C>T	11.37:g.63277347C>T	ENSP00000378116:p.Ala179Val	Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	28	58.21	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP							pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.A180V	ENST00000394618.3	37	c.539	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466933	0.63625	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4	5.41	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.110783	0.39834	N	0.001242	T	0.17450	0.0419	M	0.75615	2.305	0.32554	N	0.53199	P;P;B;P	0.52692	0.955;0.944;0.168;0.955	P;P;B;P	0.54889	0.763;0.651;0.074;0.763	T	0.14504	-1.0470	10	0.45353	T	0.12	-16.7553	11.7875	0.52051	0.0:0.9146:0.0:0.0854	.	139;180;179;179	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	V	179;179;180;118;118	ENSP00000255684:A179V;ENSP00000378116:A179V;ENSP00000339374:A180V;ENSP00000394659:A118V;ENSP00000399093:A118V	ENSP00000255684:A179V	A	+	2	0	LGALS12	63033923	0.942000	0.31987	0.111000	0.21465	0.749000	0.42624	2.064000	0.41432	1.279000	0.44446	0.511000	0.50034	GCT	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.552	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	protein_coding	OTTHUMT00000396378.1	C	NM_033101	-		63277347	1	no_errors	ENST00000340246	ensembl	human	known	74_37	missense	SNP	0.615	T	T	63277347	C	T	63277347	3	4	112	1	0	0	0	0	1	0	0	0	8741	797	28	2	553	2	LGALS12	11	63277347	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1786989	63277347	71729169	627	8122											
PLCB3	5331	genome.wustl.edu	37	chr11	64030237	64030237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggacctctcaggggaactCgttcaaccccgtgtgggacg	13	14	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64030237C>T	ENST00000540288.1	+	19	2415	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	PLCB3_ENST00000325234.5_Missense_Mutation_p.S704L|PLCB3_ENST00000279230.6_Missense_Mutation_p.S771L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	771	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGGGGAACTCGTTCAACCCC	0.652																																																	0								ENSG00000149782						125	116	119					11																	64030237		2201	4297	6498	PLCB3	SO:0001583	missense	0			-	HGNC	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2312C>T	11.37:g.64030237C>T	ENSP00000443631:p.Ser771Leu	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S771L	ENST00000540288.1	37	c.2312	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784689	0.90282	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.15603	2.41;2.41;2.41	5.21	5.21	0.72293	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.11641	-1.0579	10	0.87932	D	0	.	17.5322	0.87818	0.0:1.0:0.0:0.0	.	704;771	G5E960;Q01970	.;PLCB3_HUMAN	L	771;771;704	ENSP00000279230:S771L;ENSP00000443631:S771L;ENSP00000324660:S704L	ENSP00000279230:S771L	S	+	2	0	PLCB3	63786813	1.000000	0.71417	0.975000	0.42487	0.490000	0.33462	7.773000	0.85462	2.437000	0.82529	0.591000	0.81541	TCG	-	pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	protein_coding	OTTHUMT00000396405.1	C		-		64030237	1	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64030237	C	T	64030237	3	4	112	1	0	0	0	0	1	0	0	0	12031	893	31	1	2386	1	PLCB3	11	64030237	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	752890	64030237	70976279	628	8123											
ESRRA	2101	genome.wustl.edu	37	chr11	64081798	64081798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcccgggccccttccCtgctgggcccctggcagtcg	12	20	0	0	rs527493990		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64081798C>T	ENST00000405666.1	+	4	764	c.530C>T	c.(529-531)cCt>cTt	p.P177L	ESRRA_ENST00000000442.6_Missense_Mutation_p.P177L|ESRRA_ENST00000406310.1_Missense_Mutation_p.P177L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	177					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 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 binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGCCCCTTCCCTGCTGGGCCC	0.677													C|||	1	0.000199681	8e-04	0	5008	,	,		14263	0		0	False		,,,				2504	0																0								ENSG00000173153						12	19	17					11																	64081798		1879	4084	5963	ESRRA	SO:0001583	missense	0			-	HGNC	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.530C>T	11.37:g.64081798C>T	ENSP00000384851:p.Pro177Leu	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q14514	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P177L	ENST00000405666.1	37	c.530	CCDS41667.1	11	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747756	0.69533	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	D;D;D;D	0.92595	-3.0;-3.07;-1.75;-3.07	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (1);	0.203652	0.42964	D	0.000627	D	0.86451	0.5936	N	0.01874	-0.695	0.58432	D	0.999998	P;D	0.64830	0.952;0.994	P;P	0.62885	0.754;0.908	D	0.85507	0.1195	10	0.25751	T	0.34	.	11.7985	0.52114	0.0:1.0:0.0:0.0	.	177;177	P11474-2;P11474	.;ERR1_HUMAN	L	177;177;34;177	ENSP00000385971:P177L;ENSP00000000442:P177L;ENSP00000439896:P34L;ENSP00000384851:P177L	ENSP00000000442:P177L	P	+	2	0	ESRRA	63838374	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	3.813000	0.55636	2.232000	0.73038	0.462000	0.41574	CCT	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.677	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ESRRA	protein_coding	OTTHUMT00000319304.1	C	NM_004451	-		64081798	1	no_errors	ENST00000000442	ensembl	human	known	74_37	missense	SNP	0.999	T	T	64081798	C	T	64081798	3	4	112	1	0	0	0	0	1	0	0	0	5262	681	24	2	540	2	ESRRA	11	64081798	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	51561	64081798	70924718	629	8124											
PYGM	5837	genome.wustl.edu	37	chr11	64514753	64514753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggtcgggctgtttggggGagaagaagccactgctcagc	16	9	1	2	rs571207448		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64514753G>A	ENST00000164139.3	-	18	2653	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.S664F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	752					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTTTGGGGGAGAAGAAGCC	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		18081	0		0	False		,,,				2504	0																0								ENSG00000068976						132	109	117					11																	64514753		2201	4297	6498	PYGM	SO:0001583	missense	0			-	HGNC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2255C>T	11.37:g.64514753G>A	ENSP00000164139:p.Ser752Phe	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	43	34.85	A0AVK1|A6NDY6	Missense_Mutation	SNP							pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.S752F	ENST00000164139.3	37	c.2255	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015404	0.75161	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94897	-3.33;-3.55	4.62	4.62	0.57501	.	0.000000	0.46442	D	0.000294	D	0.97892	0.9307	H	0.94964	3.605	0.58432	D	0.999992	D;P	0.76494	0.999;0.906	D;P	0.80764	0.994;0.82	D	0.98768	1.0727	10	0.72032	D	0.01	-11.9062	14.9941	0.71415	0.0:0.0:1.0:0.0	.	664;752	A6NDY6;P11217	.;PYGM_HUMAN	F	664;752;733	ENSP00000366650:S664F;ENSP00000164139:S752F	ENSP00000164139:S752F	S	-	2	0	PYGM	64271329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.917000	0.69989	2.413000	0.81919	0.462000	0.41574	TCC	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	G	NM_005609	-		64514753	-1	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64514753	G	A	64514753	3	1	112	1	0	0	0	0	1	0	0	0	12870	1174	41	2	285	2	PYGM	11	64514753	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	432955	64514753	70491763	630	8125											
C11orf85	283129	genome.wustl.edu	37	chr11	64717233	64717233	+	Missense_Mutation	SNP	G	G	A													accaggtgacaggttttcatGgaaccatttcatctccacat							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64717233G>A	ENST00000301896.5	-	6	404	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	C11orf85_ENST00000432175.1_Missense_Mutation_p.H111Y|C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000536065.1_Missense_Mutation_p.H5Y	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	111										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						AGGTTTTCATGGAACCATTTC	0.433																																																	0								ENSG00000168070						142	132	136					11																	64717233		2201	4297	6498	C11orf85	SO:0001583	missense	0			-	HGNC	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.331C>T	11.37:g.64717233G>A	ENSP00000301896:p.His111Tyr	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	B3KS99	Missense_Mutation	SNP							NULL	p.H111Y	ENST00000301896.5	37	c.331	CCDS31603.1	11	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122316	0.37436	.	.	ENSG00000168070	ENST00000536065;ENST00000301896;ENST00000432175	.	.	.	5.22	3.28	0.37604	.	0.728933	0.12731	N	0.443849	T	0.41994	0.1183	L	0.54323	1.7	0.22500	N	0.999047	P	0.42296	0.775	B	0.44044	0.439	T	0.20571	-1.0271	9	0.49607	T	0.09	-15.4898	8.597	0.33721	0.0:0.1742:0.658:0.1678	.	111	Q3KP22	CK085_HUMAN	Y	5;111;111	.	ENSP00000301896:H111Y	H	-	1	0	C11orf85	64473809	1.000000	0.71417	0.974000	0.42286	0.960000	0.62799	1.366000	0.34193	0.682000	0.31407	0.644000	0.83932	CAT	-	NULL		0.433	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf85	protein_coding	OTTHUMT00000385477.1	G	NM_001037225	-		64717233	-1	no_errors	ENST00000301896	ensembl	human	known	74_37	missense	SNP	0.920	A	A	64717233	G	A	64717233	3	1	112	1	0	0	0	0	1	0	0	0	1670	1348	47	2	339	2	C11orf85	11	64717233	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	202480	64717233	70289283	631	8126	124	2									
C11orf85	283129	genome.wustl.edu	37	chr11	64717234	64717234	+	Silent	SNP	G	G	A													ccaggtgacaggttttcatgGaaccatttcatctccacata					rs200922605		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64717234G>A	ENST00000301896.5	-	6	403	c.330C>T	c.(328-330)ttC>ttT	p.F110F	C11orf85_ENST00000432175.1_Silent_p.F110F|C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000536065.1_Silent_p.F4F	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	110										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GGTTTTCATGGAACCATTTCA	0.438																																																	0								ENSG00000168070						142	133	136					11																	64717234		2201	4297	6498	C11orf85	SO:0001819	synonymous_variant	0			-	HGNC	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.330C>T	11.37:g.64717234G>A		Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	B3KS99	Silent	SNP							NULL	p.F110	ENST00000301896.5	37	c.330	CCDS31603.1	11																																																																																			-	NULL		0.438	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf85	protein_coding	OTTHUMT00000385477.1	G	NM_001037225	-		64717234	-1	no_errors	ENST00000301896	ensembl	human	known	74_37	silent	SNP	0.914	A	A	64717234	G	A	64717234	2	1	112	1	0	0	0	0	0	0	0	1	1670	1165	41	2		2	C11orf85	11	64717234	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	64717234	70289282	632	8127	124	2									
ARL2	402	genome.wustl.edu	37	chr11	64785863	64785863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgctggaaagacaacCatcctgaagaagttcaatgg	10	8	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64785863C>T	ENST00000246747.4	+	2	188	c.93C>T	c.(91-93)acC>acT	p.T31T	ARL2_ENST00000529384.1_Silent_p.T31T|ARL2_ENST00000533729.1_Silent_p.T31T|RP11-399J13.3_ENST00000301886.3_Silent_p.T31T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	31					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GAAAGACAACCATCCTGAAGA	0.577																																																	0								ENSG00000213465						81	67	72					11																	64785863		2201	4297	6498	ARL2	SO:0001819	synonymous_variant	0			-	HGNC	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.93C>T	11.37:g.64785863C>T		Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	53	31.17	G3V184|Q9BUK8	Silent	SNP							pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T31	ENST00000246747.4	37	c.93	CCDS8088.1	11																																																																																			-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.577	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL2	protein_coding	OTTHUMT00000385963.1	C	NM_001667	-		64785863	1	no_errors	ENST00000246747	ensembl	human	known	74_37	silent	SNP	0.999	T	T	64785863	C	T	64785863	2	4	112	1	0	0	0	0	0	0	0	1	933	581	21	2		2	ARL2	11	64785863	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	68629	64785863	70220653	633	8128											
LTBP3	4054	genome.wustl.edu	37	chr11	65325325	65325326	+	In_Frame_Ins	INS	-	-	CAGCAG													tcgaccctgccgcccaggccINScagcagcagcagcagcagca					rs535365850|rs577530923|rs71036212	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:65325325_65325326insCAGCAG	ENST00000301873.5	-	1	373_374	c.105_106insCTGCTG	c.(103-108)ctgggc>ctgCTGCTGggc	p.34_35insLL	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Ins_p.34_35insLL	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	34	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						ccgcccaggcccagcagcagca	0.812														259	0.0517173	0.0182	0.0504	5008	,	,		4999	0.0258		0.1034	False		,,,				2504	0.0716																0								ENSG00000168056																																			LTBP3	SO:0001652	inframe_insertion	0				HGNC	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.100_105dupCTGCTG	11.37:g.65325326_65325331dupCAGCAG	ENSP00000301873:p.Leu33_Leu34dup	Somatic					0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Ins	INS							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.35in_frame_insLL	ENST00000301873.5	37	c.106_105	CCDS44647.1	11																																																																																			-	NULL		0.812	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	-	NM_021070			65325326	-1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_ins	INS	1.000:0.996	CAGCAG	CAGCAG	65325326	-	CAGCAG	65325325	7	5	112	1	0	1	1	0	0	0	0	0	9077	623	22	0	3917	0	LTBP3	11	65325325	In_Frame_Ins	INS	-	TCGA-DX-AB2E-01A-11D-A38Z-09	539462	65325325	69681191	634	8129											
YIF1A	10897	genome.wustl.edu	37	chr11	66055329	66055329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctagcttcttggccacgTaggctgtgtccacagcaaaa	10	13	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:66055329T>C	ENST00000376901.4	-	3	486	c.302A>G	c.(301-303)tAc>tGc	p.Y101C	YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Missense_Mutation_p.Y101C	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	101					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CTTGGCCACGTAGGCTGTGTC	0.577																																																	0								ENSG00000174851						141	149	146					11																	66055329		2200	4295	6495	YIF1A	SO:0001583	missense	0			-	HGNC	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.302A>G	11.37:g.66055329T>C	ENSP00000366098:p.Tyr101Cys	Somatic	0	113	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	77	35.29	A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP							pfam_Hrf1,pfam_Yip1	p.Y101C	ENST00000376901.4	37	c.302	CCDS8132.1	11	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121061	0.77436	.	.	ENSG00000174851	ENST00000359461;ENST00000376901;ENST00000376904;ENST00000431556;ENST00000528575	T;T;T;T	0.77489	-1.09;-0.25;-1.05;-1.1	5.5	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91451	0.5181	10	0.87932	D	0	4.869	10.4848	0.44715	0.0:0.078:0.0:0.922	.	101	O95070	YIF1A_HUMAN	C	101	ENSP00000352437:Y101C;ENSP00000366098:Y101C;ENSP00000401953:Y101C;ENSP00000431935:Y101C	ENSP00000352437:Y101C	Y	-	2	0	YIF1A	65811905	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.467000	0.80930	1.041000	0.40125	0.459000	0.35465	TAC	-	pfam_Hrf1		0.577	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	protein_coding	OTTHUMT00000219903.3	T	NM_020470	-		66055329	-1	no_errors	ENST00000376901	ensembl	human	known	74_37	missense	SNP	1.000	C	C	66055329	T	C	66055329	3	2	112	1	0	0	0	0	1	0	0	0	17482	1638	57	5	603	5	YIF1A	11	66055329	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	730004	66055329	68951187	635	8130											
RCE1	9986	genome.wustl.edu	37	chr11	66612482	66612482	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcctgggccctgctgtgttCacctgcccgctcttttttgg	12	14	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:66612482C>T	ENST00000309657.3	+	5	638	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RCE1_ENST00000524506.1_Silent_p.F198F|RCE1_ENST00000525356.1_Silent_p.F75F	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	198					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCTGTGTTCACCTGCCCGC	0.592																																																	0								ENSG00000173653						59	51	54					11																	66612482		2200	4295	6495	RCE1	SO:0001819	synonymous_variant	0			-	HGNC	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.594C>T	11.37:g.66612482C>T		Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	25	52.83	Q52LZ9	Silent	SNP							pfam_CAAX_protease	p.F198	ENST00000309657.3	37	c.594	CCDS8151.1	11																																																																																			-	pfam_CAAX_protease		0.592	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	protein_coding	OTTHUMT00000393105.1	C	NM_005133	-		66612482	1	no_errors	ENST00000309657	ensembl	human	known	74_37	silent	SNP	1.000	T	T	66612482	C	T	66612482	2	4	112	1	0	0	0	0	0	0	0	1	13184	825	29	2		2	RCE1	11	66612482	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	557153	66612482	68394034	636	8131											
PTPRCAP	5790	genome.wustl.edu	37	chr11	67203474	67203474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggccaccatccgcgacGtggtcatagtctgtgtcctg	12	13	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:67203474G>A	ENST00000326294.3	-	2	798	c.351C>T	c.(349-351)caC>caT	p.H117H	CORO1B_ENST00000539724.1_5'Flank|AP003419.16_ENST00000535922.1_RNA	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	117					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CATCCGCGACGTGGTCATAGT	0.662																																																	0								ENSG00000213402						77	60	66					11																	67203474		2200	4295	6495	PTPRCAP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.351C>T	11.37:g.67203474G>A		Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	38	30.91	B2R512|O00643|Q6I9S6	Silent	SNP							pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP	p.H117	ENST00000326294.3	37	c.351	CCDS8163.1	11																																																																																			-	pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP		0.662	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRCAP	protein_coding	OTTHUMT00000317563.1	G	NM_005608	-		67203474	-1	no_errors	ENST00000326294	ensembl	human	known	74_37	silent	SNP	0.000	A	A	67203474	G	A	67203474	2	1	112	1	0	0	0	0	0	0	0	1	12806	1136	40	1		1	PTPRCAP	11	67203474	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	590992	67203474	67803042	637	8132											
SHANK2	22941	genome.wustl.edu	37	chr11	70666654	70666654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcgaggtggccgtggaGcagacggcccagtcgggagc	20	11	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:70666654G>A	ENST00000423696.2	-	2	207	c.171C>T	c.(169-171)tgC>tgT	p.C57C	SHANK2_ENST00000468619.1_5'UTR|SHANK2_ENST00000338508.4_Silent_p.C437C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	57					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCCGTGGAGCAGACGGCCC	0.716																																																	0								ENSG00000162105						16	29	25					11																	70666654		692	1591	2283	SHANK2	SO:0001819	synonymous_variant	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.171C>T	11.37:g.70666654G>A		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	27.50	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.C437	ENST00000423696.2	37	c.1311		11																																																																																			-	NULL		0.716	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		G	NM_012309	-		70666654	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	silent	SNP	1.000	A	A	70666654	G	A	70666654	2	1	112	1	0	0	0	0	0	0	0	1	14273	963	34	2		2	SHANK2	11	70666654	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3463180	70666654	64339862	638	8133											
DHCR7	1717	genome.wustl.edu	37	chr11	71152341	71152341	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggagacggcatagccaagGatgttggcgcaccacagcag	15	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:71152341G>A	ENST00000355527.3	-	6	834	c.558C>T	c.(556-558)atC>atT	p.I186I	DHCR7_ENST00000407721.2_Silent_p.I186I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	186					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CATAGCCAAGGATGTTGGCGC	0.572									Smith-Lemli-Opitz syndrome																																								0								ENSG00000172893						172	130	145					11																	71152341		2200	4294	6494	DHCR7	SO:0001819	synonymous_variant	0	Familial Cancer Database	SLOS type I & II	-	HGNC	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.558C>T	11.37:g.71152341G>A		Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	22	45.00	B2R6Z2|O60492|O60717	Silent	SNP							pfam_Ergosterol_biosynth_ERG4_ERG24	p.I186	ENST00000355527.3	37	c.558	CCDS8200.1	11																																																																																			-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	protein_coding	OTTHUMT00000394243.1	G	NM_001360	-		71152341	-1	no_errors	ENST00000355527	ensembl	human	known	74_37	silent	SNP	0.997	A	A	71152341	G	A	71152341	2	1	112	1	0	0	0	0	0	0	0	1	4479	1164	41	2		2	DHCR7	11	71152341	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	485687	71152341	63854175	639	8134											
DNAJB13	374407	genome.wustl.edu	37	chr11	73676073	73676073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaaaaaattaagatctCcagaagggtgagtactcagc	8	9	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:73676073C>T	ENST00000339764.1	+	4	1236	c.485C>T	c.(484-486)tCc>tTc	p.S162F	DNAJB13_ENST00000543947.1_5'Flank|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA|RP11-167N4.2_ENST00000540886.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	162					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ATTAAGATCTCCAGAAGGGTG	0.572											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000187726						50	53	52					11																	73676073		2200	4293	6493	DNAJB13	SO:0001583	missense	0			-	HGNC	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"Heat shock proteins / DNAJ (HSP40)"	30718	protein-coding gene	gene with protein product	"radial spoke 16 homolog A (Chlamydomonas)"	610263	"DnaJ (Hsp40) related, subfamily B, member 13"				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.485C>T	11.37:g.73676073C>T	ENSP00000344431:p.Ser162Phe	Somatic	0	68	0	1147	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	43	36.76	B3LEP4|Q8IZW5	Missense_Mutation	SNP							pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.S162F	ENST00000339764.1	37	c.485	CCDS8227.1	11	.	.	.	.	.	.	.	.	.	.	c	22.5	4.297229	0.81025	.	.	ENSG00000187726	ENST00000339764	D	0.84223	-1.82	5.14	5.14	0.70334	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	H	0.97896	4.1	0.80722	D	1	D	0.61080	0.989	P	0.46850	0.529	D	0.95378	0.8470	10	0.87932	D	0	.	17.2203	0.86955	0.0:1.0:0.0:0.0	.	162	P59910	DJB13_HUMAN	F	162	ENSP00000344431:S162F	ENSP00000344431:S162F	S	+	2	0	DNAJB13	73353721	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.230000	0.78097	2.417000	0.82017	0.449000	0.29647	TCC	-	superfamily_HSP40/DnaJ_pept-bd		0.572	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB13	protein_coding	OTTHUMT00000398100.1	C	NM_153614	-		73676073	1	no_errors	ENST00000339764	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73676073	C	T	73676073	3	4	112	1	0	0	0	0	1	0	0	0	4620	855	30	2	499	2	DNAJB13	11	73676073	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2523732	73676073	61330443	640	8135											
UVRAG	7405	genome.wustl.edu	37	chr11	75826996	75826996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacatggactagggactcCagacttgcggcaaacccttc	9	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:75826996C>T	ENST00000356136.3	+	14	1575	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000531818.1_Missense_Mutation_p.P73L|UVRAG_ENST00000528420.1_Missense_Mutation_p.P344L|UVRAG_ENST00000539288.1_Missense_Mutation_p.P73L|UVRAG_ENST00000532130.1_Missense_Mutation_p.P73L|UVRAG_ENST00000533454.1_Missense_Mutation_p.P73L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	445					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTAGGGACTCCAGACTTGCGG	0.393																																																	0								ENSG00000198382						93	81	85					11																	75826996		2200	4293	6493	UVRAG	SO:0001583	missense	0			-	HGNC	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1334C>T	11.37:g.75826996C>T	ENSP00000348455:p.Pro445Leu	Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	56	43.43	B3KTC1|O00392	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.P445L	ENST00000356136.3	37	c.1334	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828838	0.71258	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.33654	1.4;1.4	5.69	5.69	0.88448	.	0.099426	0.64402	D	0.000001	T	0.22475	0.0542	N	0.16708	0.43	0.80722	D	1	P	0.40638	0.725	B	0.37480	0.251	T	0.04593	-1.0940	10	0.06757	T	0.87	-9.8812	17.6702	0.88214	0.0:1.0:0.0:0.0	.	445	Q9P2Y5	UVRAG_HUMAN	L	445;344;73;73;73;73	ENSP00000348455:P445L;ENSP00000436039:P344L	ENSP00000348455:P445L	P	+	2	0	UVRAG	75504644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.753000	0.74904	2.840000	0.97914	0.655000	0.94253	CCA	-	NULL		0.393	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	protein_coding	OTTHUMT00000383430.1	C	NM_003369	-		75826996	1	no_errors	ENST00000356136	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75826996	C	T	75826996	3	4	112	1	0	0	0	0	1	0	0	0	17115	594	21	2	1388	2	UVRAG	11	75826996	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2150923	75826996	59179520	641	8136											
CAPN5	726	genome.wustl.edu	37	chr11	76825457	76825457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggtgcacagccggggcGgcctcatcagtgcctccatc	12	14	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:76825457G>A	ENST00000278559.3	+	5	865	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.G226S|CAPN5_ENST00000456580.2_Missense_Mutation_p.G266S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	226	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CAGCCGGGGCGGCCTCATCAG	0.577											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000149260						160	155	157					11																	76825457		2200	4292	6492	CAPN5	SO:0001583	missense	0			-	HGNC		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.676G>A	11.37:g.76825457G>A	ENSP00000278559:p.Gly226Ser	Somatic	0	40	0	1171	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	O00263	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.G226S	ENST00000278559.3	37	c.676	CCDS8248.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260129	0.80246	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.86030	-2.06;-2.06;-2.06	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	N	0.01618	-0.8	0.80722	D	1	D;B;B;D	0.89917	1.0;0.337;0.337;1.0	D;B;B;D	0.97110	1.0;0.091;0.091;1.0	T	0.76266	-0.3022	10	0.07990	T	0.79	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	264;266;266;226	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	S	226;266;226;266;266	ENSP00000278559:G226S;ENSP00000432332:G226S;ENSP00000409996:G266S	ENSP00000278559:G226S	G	+	1	0	CAPN5	76503105	1.000000	0.71417	0.948000	0.38648	0.948000	0.59901	9.657000	0.98554	2.438000	0.82558	0.655000	0.94253	GGC	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.577	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	protein_coding	OTTHUMT00000382564.2	G	NM_004055	-		76825457	1	no_errors	ENST00000278559	ensembl	human	known	74_37	missense	SNP	0.997	A	A	76825457	G	A	76825457	3	1	112	1	0	0	0	0	1	0	0	0	2631	1116	39	1	690	1	CAPN5	11	76825457	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	998461	76825457	58181059	642	8137											
MYO7A	4647	genome.wustl.edu	37	chr11	76893564	76893564	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgatggcagtgagaagatCcctgtgatgaccaagattta	12	6	0	6			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:76893564C>T	ENST00000409709.3	+	25	3476	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYO7A_ENST00000409893.1_Silent_p.I1068I|MYO7A_ENST00000409619.2_Silent_p.I1057I|MYO7A_ENST00000458637.2_Silent_p.I1068I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1068	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGAGAAGATCCCTGTGATGA	0.612																																																	0								ENSG00000137474						75	80	78					11																	76893564		2078	4199	6277	MYO7A	SO:0001819	synonymous_variant	0			-	HGNC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3204C>T	11.37:g.76893564C>T		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I1068	ENST00000409709.3	37	c.3204	CCDS53683.1	11																																																																																			-	smart_MyTH4_dom,pfscan_MyTH4_dom		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	protein_coding	OTTHUMT00000328133.1	C	NM_000260	-		76893564	1	no_errors	ENST00000409709	ensembl	human	known	74_37	silent	SNP	0.998	T	T	76893564	C	T	76893564	2	4	112	1	0	0	0	0	0	0	0	1	10084	845	30	2		2	MYO7A	11	76893564	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	68107	76893564	58112952	643	8138											
ODZ4	26011	genome.wustl.edu	37	chr11	78387281	78387281	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaggttgaggccgttgtcGatgggcagcgtgacattcct	14	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:78387281G>A	ENST00000278550.7	-	30	5874	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1804					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGCCGTTGTCGATGGGCAGCG	0.672																																																	0								ENSG00000149256						23	28	26					11																	78387281		2132	4230	6362	TENM4	SO:0001819	synonymous_variant	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5412C>T	11.37:g.78387281G>A		Somatic	0	129	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	62	47.46	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP							pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.I1804	ENST00000278550.7	37	c.5412	CCDS44688.1	11																																																																																			-	NULL		0.672	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	G		-		78387281	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	SNP	0.150	A	A	78387281	G	A	78387281	2	1	112	1	0	0	0	0	0	0	0	1	10839	1048	37	1		1	ODZ4	11	78387281	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1493717	78387281	56619235	644	8139											
ODZ4	26011	genome.wustl.edu	37	chr11	78440565	78440565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaggtgcaccttcatgaGgttgaaggggatggtcgggt	17	6	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:78440565G>A	ENST00000278550.7	-	22	3724	c.3262C>T	c.(3262-3264)Ctc>Ttc	p.L1088F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1088					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ACCTTCATGAGGTTGAAGGGG	0.577																																																	0								ENSG00000149256						53	59	57					11																	78440565		1964	4143	6107	TENM4	SO:0001583	missense	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3262C>T	11.37:g.78440565G>A	ENSP00000278550:p.Leu1088Phe	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L1088F	ENST00000278550.7	37	c.3262	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253930	0.80135	.	.	ENSG00000149256	ENST00000278550	D	0.96830	-4.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	D	0.98397	0.9467	M	0.89601	3.045	0.58432	D	0.999993	D	0.76494	0.999	D	0.80764	0.994	D	0.99157	1.0860	9	.	.	.	.	17.8834	0.88848	0.0:0.0:1.0:0.0	.	1088	Q6N022	TEN4_HUMAN	F	1088	ENSP00000278550:L1088F	.	L	-	1	0	ODZ4	78118213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.385000	0.66231	2.438000	0.82558	0.491000	0.48974	CTC	-	NULL		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	G		-		78440565	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78440565	G	A	78440565	3	1	112	1	0	0	0	0	1	0	0	0	10839	1000	35	2	5099	2	ODZ4	11	78440565	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	53284	78440565	56565951	645	8140											
RAB38	23682	genome.wustl.edu	37	chr11	87908394	87908394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccacagtctccgggtcCcagtggagcaccttgagcgc	12	16	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:87908394C>T	ENST00000243662.6	-	1	241	c.159G>A	c.(157-159)tgG>tgA	p.W53*	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	53					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTCCGGGTCCCAGTGGAGCA	0.642																																																	0								ENSG00000123892						67	50	56					11																	87908394		2201	4299	6500	RAB38	SO:0001587	stop_gained	0			-	HGNC	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.159G>A	11.37:g.87908394C>T	ENSP00000243662:p.Trp53*	Somatic	0	96	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	56	49.55	Q53XK7	Nonsense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W53*	ENST00000243662.6	37	c.159	CCDS8281.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.247030|5.247030	0.95305|0.95305	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000531138|ENST00000243662	.|.	.|.	.|.	5.2|5.2	4.28|4.28	0.50868|0.50868	.|.	.|0.128915	.|0.56097	.|D	.|0.000021	T|.	0.70631|.	0.3246|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75045|.	-0.3456|.	3|.	.|.	.|.	.|.	-17.4165|-17.4165	15.9033|15.9033	0.79400|0.79400	0.0:0.8646:0.1354:0.0|0.0:0.8646:0.1354:0.0	.|.	.|.	.|.	.|.	R|X	70|53	.|.	.|.	G|W	-|-	1|3	0|0	RAB38|RAB38	87548042|87548042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.592000|0.592000	0.36648|0.36648	5.762000|5.762000	0.68809|0.68809	1.394000|1.394000	0.46624|0.46624	-0.176000|-0.176000	0.13171|0.13171	GGA|TGG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.642	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB38	protein_coding	OTTHUMT00000394015.2	C		-		87908394	-1	no_errors	ENST00000243662	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	87908394	C	T	87908394	4	4	112	1	0	0	0	0	0	1	0	0	12936	624	22	2	488	2	RAB38	11	87908394	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9467829	87908394	47098122	646	8141											
FAT3	120114	genome.wustl.edu	37	chr11	92532163	92532163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaatctcagagaacaAcactaacataaccaaagttg	4	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:92532163A>G	ENST00000298047.6	+	9	6001	c.5984A>G	c.(5983-5985)aAc>aGc	p.N1995S	FAT3_ENST00000409404.2_Missense_Mutation_p.N1995S|FAT3_ENST00000525166.1_Missense_Mutation_p.N1845S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1995	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)				TCAGAGAACAACACTAACATA	0.408										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						171	167	168					11																	92532163		1940	4136	6076	FAT3	SO:0001583	missense	0			-	HGNC	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.5984A>G	11.37:g.92532163A>G	ENSP00000298047:p.Asn1995Ser	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	29	61.84	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N1995S	ENST00000298047.6	37	c.5984		11	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.008766	0.00426	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	5.82	0.862	0.19056	.	.	.	.	.	T	0.00524	0.0017	N	0.00337	-1.62	0.40875	D	0.983941	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	9	0.02654	T	1	.	8.171	0.31254	0.2428:0.132:0.6252:0.0	.	1995	Q8TDW7-3	.	S	1995;1995;1845	ENSP00000298047:N1995S;ENSP00000387040:N1995S;ENSP00000432586:N1845S	ENSP00000298047:N1995S	N	+	2	0	FAT3	92171811	0.722000	0.28017	0.695000	0.30226	0.812000	0.45895	1.037000	0.30241	0.108000	0.17862	0.533000	0.62120	AAC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.408	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		A	NM_001008781	-		92532163	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	0.531	G	G	92532163	A	G	92532163	3	3	112	1	0	0	0	0	1	0	0	0	5693	43	2	5	6018	5	FAT3	11	92532163	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	4623769	92532163	42474353	647	8142											
TRPC6	7225	genome.wustl.edu	37	chr11	101362323	101362323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatggcaagttttaaacgGctgagatttgggcgaccgtg	13	6	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:101362323G>A	ENST00000344327.3	-	3	1516	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	TRPC6_ENST00000360497.4_Silent_p.S364S|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.S364S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	364					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTTTAAACGGCTGAGATTTG	0.423																																					Colon(166;1315 1927 11094 12848 34731)												0								ENSG00000137672						133	138	136					11																	101362323		2203	4299	6502	TRPC6	SO:0001819	synonymous_variant	0			-	HGNC	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1092C>T	11.37:g.101362323G>A		Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	20	60.78	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S364	ENST00000344327.3	37	c.1092	CCDS8311.1	11																																																																																			-	tigrfam_TRP_channel		0.423	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	protein_coding	OTTHUMT00000394770.1	G	NM_004621	-		101362323	-1	no_errors	ENST00000344327	ensembl	human	known	74_37	silent	SNP	1.000	A	A	101362323	G	A	101362323	2	1	112	1	0	0	0	0	0	0	0	1	16590	1194	42	2		2	TRPC6	11	101362323	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8830160	101362323	33644193	648	8143											
MMP20	9313	genome.wustl.edu	37	chr11	102479737	102479737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagggattcttgtacttatAagttgggtacatcagtgctg	11	5	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:102479737A>G	ENST00000260228.2	-	5	754	c.742T>C	c.(742-744)Tat>Cat	p.Y248H	RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'Flank|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	255					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTGTACTTATAAGTTGGGTAC	0.448																																																	0								ENSG00000137674						137	124	128					11																	102479737		2203	4299	6502	MMP20	SO:0001583	missense	0			-	HGNC	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.742T>C	11.37:g.102479737A>G	ENSP00000260228:p.Tyr248His	Somatic	0	106	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	D3DUA8|Q9H3Q0	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.Y248H	ENST00000260228.2	37	c.742	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688074	0.88639	.	.	ENSG00000137674	ENST00000260228	T	0.26660	1.72	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.126174	0.56097	D	0.000034	T	0.62889	0.2465	H	0.94423	3.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74607	-0.3609	10	0.87932	D	0	.	15.2365	0.73436	1.0:0.0:0.0:0.0	.	248	O60882	MMP20_HUMAN	H	248	ENSP00000260228:Y248H	ENSP00000260228:Y248H	Y	-	1	0	MMP20	101984947	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.798000	0.91888	2.254000	0.74563	0.533000	0.62120	TAT	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A		0.448	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	protein_coding	OTTHUMT00000398012.1	A		-		102479737	-1	no_errors	ENST00000260228	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102479737	A	G	102479737	3	3	112	1	0	0	0	0	1	0	0	0	9661	362	13	5	733	5	MMP20	11	102479737	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1117414	102479737	32526779	649	8144											
MMP20	9313	genome.wustl.edu	37	chr11	102487583	102487583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccatttgggttcaccagGgaagaggcgataattggcca	12	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:102487583G>A	ENST00000260228.2	-	2	346	c.334C>T	c.(334-336)Cct>Tct	p.P112S	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	110					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGTTCACCAGGGAAGAGGCGA	0.443																																																	0								ENSG00000137674						114	98	104					11																	102487583		2203	4299	6502	MMP20	SO:0001583	missense	0			-	HGNC	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"enamelysin"	604629	"matrix metalloproteinase 20 (enamelysin)"			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.334C>T	11.37:g.102487583G>A	ENSP00000260228:p.Pro112Ser	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	24	57.14	D3DUA8|Q9H3Q0	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.P112S	ENST00000260228.2	37	c.334	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183510	0.57800	.	.	ENSG00000137674	ENST00000260228	T	0.51325	0.71	5.09	5.09	0.68999	Metallopeptidase, catalytic domain (1);	0.219821	0.46145	D	0.000305	T	0.65616	0.2708	M	0.86502	2.82	0.44890	D	0.997908	P	0.44090	0.826	P	0.48815	0.591	T	0.72564	-0.4255	10	0.72032	D	0.01	.	18.6636	0.91479	0.0:0.0:1.0:0.0	.	112	O60882	MMP20_HUMAN	S	112	ENSP00000260228:P112S	ENSP00000260228:P112S	P	-	1	0	MMP20	101992793	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.322000	0.33689	2.804000	0.96469	0.655000	0.94253	CCT	-	pirsf_Pept_M10A_Metazoans		0.443	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	protein_coding	OTTHUMT00000398012.1	G		-		102487583	-1	no_errors	ENST00000260228	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102487583	G	A	102487583	3	1	112	1	0	0	0	0	1	0	0	0	9661	1232	43	2	1153	2	MMP20	11	102487583	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7846	102487583	32518933	650	8145											
MMP1	4312	genome.wustl.edu	37	chr11	102666278	102666278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaaagccccgatatcagtaGaatgggagagtccaagagaa	11	8	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:102666278G>A	ENST00000315274.6	-	5	753	c.686C>T	c.(685-687)tCt>tTt	p.S229F	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	229	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATATCAGTAGAATGGGAGAG	0.428																																																	0								ENSG00000196611						80	70	73					11																	102666278		2203	4299	6502	MMP1	SO:0001583	missense	0			-	HGNC	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.686C>T	11.37:g.102666278G>A	ENSP00000322788:p.Ser229Phe	Somatic	0	131	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	41	48.10	P08156	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.S229F	ENST00000315274.6	37	c.686	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	g	18.68	3.675146	0.67928	.	.	ENSG00000196611	ENST00000315274	T	0.27104	1.69	5.65	5.65	0.86999	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.67297	0.2878	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77683	-0.2496	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	229	P03956	MMP1_HUMAN	F	229	ENSP00000322788:S229F	ENSP00000322788:S229F	S	-	2	0	MMP1	102171488	1.000000	0.71417	0.992000	0.48379	0.168000	0.22595	9.209000	0.95087	2.824000	0.97209	0.655000	0.94253	TCT	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A		0.428	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	protein_coding	OTTHUMT00000109632.1	G	NM_002421	-		102666278	-1	no_errors	ENST00000315274	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102666278	G	A	102666278	3	1	112	1	0	0	0	0	1	0	0	0	9650	942	33	2	747	2	MMP1	11	102666278	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	178695	102666278	32340238	651	8146											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103270502	103270502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattcgtttagtacaaagtGtccaccagtctcttgctgct	7	11	1	0	rs376545196		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:103270502G>T	ENST00000375735.2	+	84	12412	c.12268G>T	c.(12268-12270)Gtc>Ttc	p.V4090F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V4097F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4090					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)		AGTACAAAGTGTCCACCAGTC	0.383																																																	0								ENSG00000187240						100	94	96					11																	103270502		1888	4109	5997	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.12268G>T	11.37:g.103270502G>T	ENSP00000364887:p.Val4090Phe	Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V4097F	ENST00000375735.2	37	c.12289	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015505	0.75161	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.10668	2.85;2.85	5.78	4.88	0.63580	Dynein heavy chain (1);	0.208186	0.42294	D	0.000728	T	0.30916	0.0780	M	0.84326	2.69	0.51482	D	0.999926	P;P	0.46912	0.886;0.862	P;P	0.61070	0.883;0.764	T	0.03641	-1.1017	10	0.87932	D	0	.	9.1643	0.37041	0.2166:0.0:0.7834:0.0	.	4090;4097	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	4090;4097;336	ENSP00000364887:V4090F;ENSP00000381167:V4097F	ENSP00000364887:V4090F	V	+	1	0	DYNC2H1	102775712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.328000	0.52052	1.458000	0.47871	0.557000	0.71058	GTC	-	pfam_Dynein_heavy_dom		0.383	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	G	XM_370652	-		103270502	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103270502	G	T	103270502	3	4	112	1	0	0	0	0	1	0	0	0	4848	1377	48	3	12627	3	DYNC2H1	11	103270502	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	604224	103270502	31736014	652	8147											
C11orf65	160140	genome.wustl.edu	37	chr11	108302545	108302545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcaatcagacttttaaaGtgttgaaatatagcgacatt	6	5	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:108302545G>A	ENST00000529391.1	-	2	111	c.102C>T	c.(100-102)caC>caT	p.H34H	C11orf65_ENST00000393084.1_Silent_p.H34H|C11orf65_ENST00000525729.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	34										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GACTTTTAAAGTGTTGAAATA	0.318																																																	0								ENSG00000166323						149	150	150					11																	108302545		2200	4292	6492	C11orf65	SO:0001819	synonymous_variant	0			-	HGNC	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.102C>T	11.37:g.108302545G>A		Somatic	0	127	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	73	40.16	B4DZU4|Q6PCA8	Silent	SNP							NULL	p.H34	ENST00000529391.1	37	c.102	CCDS8340.1	11																																																																																			-	NULL		0.318	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	protein_coding	OTTHUMT00000390010.3	G	NM_152587	-		108302545	-1	no_errors	ENST00000393084	ensembl	human	known	74_37	silent	SNP	0.774	A	A	108302545	G	A	108302545	2	1	112	1	0	0	0	0	0	0	0	1	1657	1020	36	2		2	C11orf65	11	108302545	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5032043	108302545	26703971	653	8148											
EXPH5	23086	genome.wustl.edu	37	chr11	108384720	108384720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaaatcatttcaaagtctCtgtcagaagaactgaatgat	8	6	4	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:108384720C>T	ENST00000265843.4	-	6	1624	c.1514G>A	c.(1513-1515)aGa>aAa	p.R505K	EXPH5_ENST00000443411.1_Missense_Mutation_p.R317K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R429K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R498K|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	505					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCAAAGTCTCTGTCAGAAGA	0.408																																																	0								ENSG00000110723						68	69	69					11																	108384720		2201	4297	6498	EXPH5	SO:0001583	missense	0			-	HGNC		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1514G>A	11.37:g.108384720C>T	ENSP00000265843:p.Arg505Lys	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	25	62.12	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.R505K	ENST00000265843.4	37	c.1514	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187205	0.38609	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04194	4.26;4.19;4.04;4.26;4.1;3.68	5.98	5.07	0.68467	.	0.560494	0.18422	N	0.141706	T	0.04497	0.0123	L	0.46741	1.465	0.22240	N	0.99926	B	0.28350	0.208	B	0.25759	0.063	T	0.39941	-0.9589	10	0.07644	T	0.81	-5.6175	7.9966	0.30271	0.0:0.7531:0.1609:0.086	.	505	Q8NEV8	EXPH5_HUMAN	K	505;429;317;498;349;429;317	ENSP00000265843:R505K;ENSP00000391966:R429K;ENSP00000411390:R317K;ENSP00000432546:R498K;ENSP00000432683:R429K;ENSP00000446434:R317K	ENSP00000265843:R505K	R	-	2	0	EXPH5	107889930	0.991000	0.36638	0.998000	0.56505	0.889000	0.51656	0.839000	0.27586	1.509000	0.48786	0.591000	0.81541	AGA	-	NULL		0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	protein_coding	OTTHUMT00000390279.1	C	NM_015065	-		108384720	-1	no_errors	ENST00000265843	ensembl	human	known	74_37	missense	SNP	0.997	T	T	108384720	C	T	108384720	3	4	112	1	0	0	0	0	1	0	0	0	5324	913	32	2	4459	2	EXPH5	11	108384720	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	82175	108384720	26621796	654	8149											
DRD2	1813	genome.wustl.edu	37	chr11	113295128	113295128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcatgaccagtgtggcgacGaggaggtcggccactgcgag	18	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:113295128G>A	ENST00000362072.3	-	2	590	c.246C>T	c.(244-246)ctC>ctT	p.L82L	DRD2_ENST00000538967.1_Silent_p.L82L|DRD2_ENST00000355319.2_Silent_p.L82L|DRD2_ENST00000542968.1_Silent_p.L82L|DRD2_ENST00000544518.1_Silent_p.L82L|DRD2_ENST00000346454.3_Silent_p.L82L|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	82					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)	GTGTGGCGACGAGGAGGTCGG	0.637																																																	0								ENSG00000149295						104	83	90					11																	113295128		2201	4296	6497	DRD2	SO:0001819	synonymous_variant	0			-	HGNC	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.246C>T	11.37:g.113295128G>A		Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	10	68.75	Q9NZR3|Q9UPA9	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L82	ENST00000362072.3	37	c.246	CCDS8361.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.637	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795	-		113295128	-1	no_errors	ENST00000355319	ensembl	human	known	74_37	silent	SNP	0.652	A	A	113295128	G	A	113295128	2	1	112	1	0	0	0	0	0	0	0	1	4759	1045	37	1		1	DRD2	11	113295128	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4910408	113295128	21711388	655	8150											
DSCAML1	57453	genome.wustl.edu	37	chr11	117335657	117335657	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctgctggggccctcaCcatcctccagagtggtggca	11	16	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:117335657C>T	ENST00000321322.6	-	17	3447		c.e17+1		DSCAML1_ENST00000527706.1_Splice_Site	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						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)		GGGGCCCTCACCATCCTCCAG	0.632																																																	0								ENSG00000177103						52	48	49					11																	117335657		2201	4296	6497	DSCAML1	SO:0001630	splice_region_variant	0			-	HGNC		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.3445+1G>A	11.37:g.117335657C>T		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	14	62.16	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Splice_Site	SNP							-	e17+1	ENST00000321322.6	37	c.3445+1	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546877	0.86022	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8525	0.88751	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAML1	116840867	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	7.651000	0.83577	2.443000	0.82685	0.561000	0.74099	.	-	-		0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	C	NM_020693	-	Intron	117335657	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	117335657	C	T	117335657	5	4	112	1	0	0	0	0	0	0	1	0	4771	521	18	2	2963	2	DSCAML1	11	117335657	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4040529	117335657	17670859	656	8151											
HYOU1	10525	genome.wustl.edu	37	chr11	118917283	118917283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttctcacctgctggagGgatgaccttctccccctggt	10	15	2	1	rs201317769		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:118917283G>A	ENST00000404233.3	-	23	2951	c.2827C>T	c.(2827-2829)Cct>Tct	p.P943S	HYOU1_ENST00000525859.1_Missense_Mutation_p.P881S|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Missense_Mutation_p.P881S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	943					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCTGCTGGAGGGATGACCTTC	0.597													G|||	1	0.000199681	0	0	5008	,	,		18324	0		0.001	False		,,,				2504	0																0								ENSG00000149428						135	130	132					11																	118917283		2200	4295	6495	HYOU1	SO:0001583	missense	0			GMAF=0.0005	HGNC	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2827C>T	11.37:g.118917283G>A	ENSP00000384144:p.Pro943Ser	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P943S	ENST00000404233.3	37	c.2827	CCDS8408.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516244	0.44763	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01464	4.86;4.89;4.89	6.04	5.12	0.69794	.	0.169319	0.53938	D	0.000049	T	0.02571	0.0078	L	0.41710	1.295	0.80722	D	1	P;P;P;P	0.45348	0.856;0.546;0.856;0.856	B;B;B;B	0.42462	0.388;0.136;0.388;0.388	T	0.66052	-0.6019	10	0.13108	T	0.6	-0.8991	16.826	0.85931	0.0:0.0:0.8704:0.1296	.	934;925;943;943	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	S	943;934;881;792;881;924	ENSP00000384144:P943S;ENSP00000437313:P881S;ENSP00000433397:P881S	ENSP00000278752:P934S	P	-	1	0	HYOU1	118422493	1.000000	0.71417	0.491000	0.27477	0.253000	0.25986	8.973000	0.93428	1.556000	0.49512	-0.310000	0.09108	CCT	-	NULL		0.597	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	protein_coding	OTTHUMT00000389353.1	G	NM_006389	rs201317769		118917283	-1	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	SNP	0.997	A	A	118917283	G	A	118917283	3	1	112	1	0	0	0	0	1	0	0	0	7472	1232	43	2	188	2	HYOU1	11	118917283	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1581626	118917283	16089233	657	8152											
GRIK4	2900	genome.wustl.edu	37	chr11	120702575	120702575	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccaggccttttaaacctaGagaagctgctccggcaattc	8	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:120702575G>A	ENST00000527524.2	+	7	813	c.526G>A	c.(526-528)Gag>Aag	p.E176K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E176K	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	176					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)		TTTAAACCTAGAGAAGCTGCT	0.602																																																	0								ENSG00000149403						64	70	68					11																	120702575		2203	4299	6502	GRIK4	SO:0001583	missense	0			-	HGNC	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.526G>A	11.37:g.120702575G>A	ENSP00000435648:p.Glu176Lys	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	32	48.39	A8K9L1	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E176K	ENST00000527524.2	37	c.526	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332403	0.81801	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.83992	-1.79;-1.79	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.096404	0.64402	D	0.000001	T	0.81331	0.4800	M	0.63428	1.95	0.80722	D	1	B;P	0.35714	0.106;0.517	B;B	0.32465	0.068;0.146	T	0.83021	-0.0167	10	0.52906	T	0.07	.	18.0832	0.89449	0.0:0.0:1.0:0.0	.	176;176	A6H8K8;Q16099	.;GRIK4_HUMAN	K	176	ENSP00000435648:E176K;ENSP00000404063:E176K	ENSP00000404063:E176K	E	+	1	0	GRIK4	120207785	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.255000	0.95524	2.477000	0.83638	0.561000	0.74099	GAG	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	G	NM_014619	-		120702575	1	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120702575	G	A	120702575	3	1	112	1	0	0	0	0	1	0	0	0	6778	943	33	2	544	2	GRIK4	11	120702575	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1785292	120702575	14303941	658	8153											
GRIK4	2900	genome.wustl.edu	37	chr11	120776105	120776105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggagctggcagagatcctccGattcaactacaagatccgcc	10	13	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:120776105G>T	ENST00000527524.2	+	13	1666	c.1379G>T	c.(1378-1380)cGa>cTa	p.R460L	GRIK4_ENST00000438375.2_Missense_Mutation_p.R460L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	460					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)		GAGATCCTCCGATTCAACTAC	0.577																																																	0								ENSG00000149403						161	158	159					11																	120776105		2203	4299	6502	GRIK4	SO:0001583	missense	0			-	HGNC	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.1379G>T	11.37:g.120776105G>T	ENSP00000435648:p.Arg460Leu	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	A8K9L1	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R460L	ENST00000527524.2	37	c.1379	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731520	0.69189	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11495	2.77;2.77	5.47	4.55	0.56014	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.059773	0.64402	D	0.000003	T	0.14527	0.0351	L	0.46157	1.445	0.25922	N	0.983101	B;P	0.35575	0.223;0.51	B;B	0.42827	0.399;0.399	T	0.08330	-1.0727	10	0.72032	D	0.01	.	9.9238	0.41481	0.0719:0.0:0.7881:0.14	.	460;460	A6H8K8;Q16099	.;GRIK4_HUMAN	L	460	ENSP00000435648:R460L;ENSP00000404063:R460L	ENSP00000404063:R460L	R	+	2	0	GRIK4	120281315	0.999000	0.42202	0.375000	0.26029	0.957000	0.61999	3.965000	0.56788	1.270000	0.44297	0.655000	0.94253	CGA	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.577	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	G	NM_014619	-		120776105	1	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	SNP	0.358	T	T	120776105	G	T	120776105	3	4	112	1	0	0	0	0	1	0	0	0	6778	1058	37	3	1421	3	GRIK4	11	120776105	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	73530	120776105	14230411	659	8154											
TECTA	7007	genome.wustl.edu	37	chr11	121030984	121030984	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgtcattaaaatcagcatCagcgagaggctgcagaacaa	9	9	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:121030984C>T	ENST00000392793.1	+	15	5101	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	TECTA_ENST00000264037.2_Silent_p.I1610I			O75443	TECTA_HUMAN	tectorin alpha	1610	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAATCAGCATCAGCGAGAGGC	0.488																																																	0								ENSG00000109927						116	113	114					11																	121030984		2203	4299	6502	TECTA	SO:0001819	synonymous_variant	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4830C>T	11.37:g.121030984C>T		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38		Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.I1610	ENST00000392793.1	37	c.4830	CCDS8434.1	11																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422	-		121030984	1	no_errors	ENST00000264037	ensembl	human	known	74_37	silent	SNP	1.000	T	T	121030984	C	T	121030984	2	4	112	1	0	0	0	0	0	0	0	1	15754	816	29	2		2	TECTA	11	121030984	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	254879	121030984	13975532	660	8155											
SORL1	6653	genome.wustl.edu	37	chr11	121367755	121367755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgtttgctacaaaggtGgtggtaagttgaatgtacta	11	4	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:121367755G>A	ENST00000260197.7	+	6	1065	c.936G>A	c.(934-936)gtG>gtA	p.V312V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	312					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTACAAAGGTGGTGGTAAGTT	0.398																																																	0								ENSG00000137642						85	83	84					11																	121367755		2203	4299	6502	SORL1	SO:0001819	synonymous_variant	0			-	HGNC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.936G>A	11.37:g.121367755G>A		Somatic	0	140	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	55	50.00	B2RNX7|Q92856	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V312	ENST00000260197.7	37	c.936	CCDS8436.1	11																																																																																			-	smart_VPS10		0.398	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	protein_coding	OTTHUMT00000387626.2	G	NM_003105	-		121367755	1	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	SNP	0.928	A	A	121367755	G	A	121367755	2	1	112	1	0	0	0	0	0	0	0	1	14942	1335	47	2		2	SORL1	11	121367755	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	336771	121367755	13638761	661	8156											
SORL1	6653	genome.wustl.edu	37	chr11	121393685	121393685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctctagcagtgctggagCcaggtggcgagaggtcagcc	15	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:121393685C>T	ENST00000260197.7	+	11	1712	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	528			A -> T (in dbSNP:rs2298813). {ECO:0000269|PubMed:18407551}.		cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTGCTGGAGCCAGGTGGCGA	0.483																																																	0								ENSG00000137642						73	76	75					11																	121393685		2203	4299	6502	SORL1	SO:0001583	missense	0			-	HGNC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1583C>T	11.37:g.121393685C>T	ENSP00000260197:p.Ala528Val	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	B2RNX7|Q92856	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A528V	ENST00000260197.7	37	c.1583	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	7.388	0.630212	0.14257	.	.	ENSG00000137642	ENST00000260197	T	0.42900	0.96	5.56	5.56	0.83823	VPS10 (1);	0.114955	0.64402	D	0.000017	T	0.15219	0.0367	N	0.02539	-0.55	0.80722	D	1	B	0.22683	0.073	B	0.18871	0.023	T	0.22173	-1.0224	10	0.02654	T	1	.	9.781	0.40649	0.0:0.8463:0.0:0.1537	.	528	Q92673	SORL_HUMAN	V	528	ENSP00000260197:A528V	ENSP00000260197:A528V	A	+	2	0	SORL1	120898895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.473000	0.53122	2.621000	0.88768	0.591000	0.81541	GCC	-	smart_VPS10		0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	protein_coding	OTTHUMT00000387626.2	C	NM_003105	-		121393685	1	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121393685	C	T	121393685	3	4	112	1	0	0	0	0	1	0	0	0	14942	739	26	2	1625	2	SORL1	11	121393685	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	25930	121393685	13612831	662	8157											
OR10G9	219870	genome.wustl.edu	37	chr11	123894401	123894401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttccatcctgcggatcCacacctcagaggggaggcac	11	14	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:123894401C>T	ENST00000375024.1	+	1	682	c.682C>T	c.(682-684)Cac>Tac	p.H228Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	228			H -> R (in dbSNP:rs12221656).			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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTGCGGATCCACACCTCAGA	0.527																																																	0								ENSG00000236981						169	146	154					11																	123894401		2201	4299	6500	OR10G9	SO:0001583	missense	0			-	HGNC	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.682C>T	11.37:g.123894401C>T	ENSP00000364164:p.His228Tyr	Somatic	0	98	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	65	19.75		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H228Y	ENST00000375024.1	37	c.682	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	C	7.635	0.679669	0.14907	.	.	ENSG00000236981	ENST00000375024	T	0.37915	1.17	3.44	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.566353	0.16067	N	0.231209	T	0.33059	0.0850	L	0.56199	1.76	0.09310	N	0.999997	B	0.21452	0.056	B	0.31191	0.125	T	0.27872	-1.0061	10	0.40728	T	0.16	.	6.9582	0.24583	0.0:0.7768:0.0:0.2232	.	228	Q8NGN4	O10G9_HUMAN	Y	228	ENSP00000364164:H228Y	ENSP00000364164:H228Y	H	+	1	0	OR10G9	123399611	0.000000	0.05858	0.997000	0.53966	0.245000	0.25701	0.313000	0.19415	0.794000	0.33899	0.650000	0.86243	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	protein_coding	OTTHUMT00000387269.1	C	NM_001001953	-		123894401	1	no_errors	ENST00000375024	ensembl	human	known	74_37	missense	SNP	0.998	T	T	123894401	C	T	123894401	3	4	112	1	0	0	0	0	1	0	0	0	10906	594	21	2	684	2	OR10G9	11	123894401	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2500716	123894401	11112115	663	8158											
OR10G8	219869	genome.wustl.edu	37	chr11	123900452	123900452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactgtgctggggaacctCctcatcctgctggtgatcag	11	13	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:123900452C>T	ENST00000431524.1	+	1	156	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	41						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGGAACCTCCTCATCCTGC	0.567																																																	0								ENSG00000234560						223	187	199					11																	123900452		2201	4296	6497	OR10G8	SO:0001819	synonymous_variant	0			-	HGNC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.123C>T	11.37:g.123900452C>T		Somatic	0	170	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	116	11.45	B2RNJ3|Q6IEV2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000431524.1	37	c.123	CCDS31704.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	C	NM_001004464	-		123900452	1	no_errors	ENST00000431524	ensembl	human	known	74_37	silent	SNP	0.022	T	T	123900452	C	T	123900452	2	4	112	1	0	0	0	0	0	0	0	1	10905	842	30	2		2	OR10G8	11	123900452	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6051	123900452	11106064	664	8159											
OR8D1	283159	genome.wustl.edu	37	chr11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaaatcaggactcattttCctactaagaccttccttaat	3	13	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368																																																	0								ENSG00000196341						89	90	90					11																	124179743		2201	4299	6500	OR8D1	SO:0001583	missense	0			-	HGNC	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.920G>A	11.37:g.124179743C>T	ENSP00000350474:p.Gly307Glu	Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.42	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G307E	ENST00000357821.2	37	c.920	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	8.310	0.822005	0.16678	.	.	ENSG00000196341	ENST00000357821	T	0.00314	8.14	4.19	-1.13	0.09775	.	0.987857	0.08202	U	0.982203	T	0.00178	0.0005	N	0.20357	0.565	0.09310	N	1	B	0.23540	0.087	B	0.34536	0.185	T	0.21008	-1.0258	10	0.62326	D	0.03	.	3.8617	0.08999	0.4486:0.3692:0.0:0.1822	.	307	Q8WZ84	OR8D1_HUMAN	E	307	ENSP00000350474:G307E	ENSP00000350474:G307E	G	-	2	0	OR8D1	123684953	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.427000	0.06999	-0.451000	0.07097	0.508000	0.49915	GGA	-	NULL		0.368	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	protein_coding	OTTHUMT00000387285.1	C	NM_001002917	-		124179743	-1	no_errors	ENST00000357821	ensembl	human	known	74_37	missense	SNP	0.000	T	T	124179743	C	T	124179743	3	4	112	1	0	0	0	0	1	0	0	0	11233	855	30	2	9	2	OR8D1	11	124179743	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	279291	124179743	10826773	665	8160											
TBRG1	84897	genome.wustl.edu	37	chr11	124495738	124495738	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcactggggctgaggaaccAtttgggaagaaaactaagaa	13	6	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124495738A>T	ENST00000441174.3	+	3	597	c.393A>T	c.(391-393)ccA>ccT	p.P131P	TBRG1_ENST00000438907.2_3'UTR|TBRG1_ENST00000375005.4_Missense_Mutation_p.H26L	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	131					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		CTGAGGAACCATTTGGGAAGA	0.488																																																	0								ENSG00000154144						17	17	17					11																	124495738		2201	4296	6497	TBRG1	SO:0001819	synonymous_variant	0			-	HGNC	AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.393A>T	11.37:g.124495738A>T		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Missense_Mutation	SNP							pfam_FYrich_C,pfam_FYrich_N,smart_FYrich_N,smart_FYrich_C	p.H26L	ENST00000441174.3	37	c.77	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385469	0.61956	.	.	ENSG00000154144	ENST00000375005	T	0.79554	-1.28	6.03	0.616	0.17613	.	.	.	.	.	T	0.66416	0.2787	.	.	.	0.22866	N	0.998639	B	0.06786	0.001	B	0.08055	0.003	T	0.55198	-0.8178	8	0.54805	T	0.06	-2.0577	2.7931	0.05393	0.5226:0.2592:0.0754:0.1428	.	26	Q3YBR2-2	.	L	26	ENSP00000364144:H26L	ENSP00000364144:H26L	H	+	2	0	TBRG1	124000948	0.702000	0.27816	1.000000	0.80357	0.999000	0.98932	0.138000	0.16016	0.118000	0.18165	0.533000	0.62120	CAT	-	NULL		0.488	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	protein_coding	OTTHUMT00000329057.2	A	NM_032811	-		124495738	1	no_errors	ENST00000375005	ensembl	human	known	74_37	missense	SNP	0.996	T	T	124495738	A	T	124495738	2	4	112	1	0	0	0	0	0	0	0	1	15655	204	8	5		5	TBRG1	11	124495738	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	315995	124495738	10510778	666	8161											
TBRG1	84897	genome.wustl.edu	37	chr11	124502104	124502104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacttgaagtctccatcAcagggtagcccaattcagtc	8	13	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124502104A>G	ENST00000441174.3	+	9	1410	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S	TBRG1_ENST00000438907.2_3'UTR|TBRG1_ENST00000375005.4_Silent_p.S251S	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	402					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		AGTCTCCATCACAGGGTAGCC	0.433																																																	0								ENSG00000154144						126	113	117					11																	124502104		2201	4299	6500	TBRG1	SO:0001819	synonymous_variant	0			-	HGNC	AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.1206A>G	11.37:g.124502104A>G		Somatic	0	99	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	37	50.65	Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Silent	SNP							pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.S402	ENST00000441174.3	37	c.1206	CCDS8448.2	11																																																																																			-	NULL		0.433	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	protein_coding	OTTHUMT00000329057.2	A	NM_032811	-		124502104	1	no_errors	ENST00000441174	ensembl	human	known	74_37	silent	SNP	0.000	G	G	124502104	A	G	124502104	2	3	112	1	0	0	0	0	0	0	0	1	15655	146	6	5		5	TBRG1	11	124502104	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	6366	124502104	10504412	667	8162											
CCDC15	80071	genome.wustl.edu	37	chr11	124857872	124857872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacccatatgtcaggaccagGattttctacccagagaccaa	7	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124857872G>A	ENST00000344762.5	+	8	2009	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	CCDC15_ENST00000529051.1_Missense_Mutation_p.D584N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	584						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TCAGGACCAGGATTTTCTACC	0.438																																																	0								ENSG00000149548						176	166	169					11																	124857872		1820	4079	5899	CCDC15	SO:0001583	missense	0			-	HGNC	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1750G>A	11.37:g.124857872G>A	ENSP00000341684:p.Asp584Asn	Somatic	0	132	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	119	13.04	Q9H8U7	Missense_Mutation	SNP							NULL	p.D584N	ENST00000344762.5	37	c.1750	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412579	0.25465	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.32515	1.45;1.47	3.41	2.45	0.29901	.	.	.	.	.	T	0.37489	0.1005	L	0.44542	1.39	0.22581	N	0.998967	D	0.58268	0.982	P	0.55749	0.783	T	0.14117	-1.0484	9	0.33141	T	0.24	.	10.78	0.46371	0.0:0.1965:0.8035:0.0	.	584	Q0P6D6	CCD15_HUMAN	N	584	ENSP00000435403:D584N;ENSP00000341684:D584N	ENSP00000341684:D584N	D	+	1	0	CCDC15	124363082	0.000000	0.05858	0.087000	0.20705	0.669000	0.39330	-1.678000	0.01942	0.685000	0.31468	0.514000	0.50259	GAT	-	NULL		0.438	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	protein_coding	OTTHUMT00000387131.1	G	NM_025004	-		124857872	1	no_errors	ENST00000344762	ensembl	human	known	74_37	missense	SNP	0.619	A	A	124857872	G	A	124857872	3	1	112	1	0	0	0	0	1	0	0	0	2786	1174	41	2	1776	2	CCDC15	11	124857872	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	355768	124857872	10148644	668	8163											
KCNJ5	3762	genome.wustl.edu	37	chr11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcatgttccgggtgggcGacctccgcaactcccacatc	10	17	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0								ENSG00000120457						94	94	94					11																	128781835		2201	4297	6498	KCNJ5	SO:0001583	missense	0			-	HGNC	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.667G>A	11.37:g.128781835G>A	ENSP00000339960:p.Asp223Asn	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.D223N	ENST00000338350.4	37	c.667	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	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	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	KCNJ5	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	protein_coding	OTTHUMT00000386239.1	G	NM_000890	-		128781835	1	no_errors	ENST00000529694	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128781835	G	A	128781835	3	1	112	1	0	0	0	0	1	0	0	0	8056	1058	37	1	669	1	KCNJ5	11	128781835	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3923963	128781835	6224681	669	8164											
FOXM1	2305	genome.wustl.edu	37	chr12	2968197	2968197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggctgaaatccagtccCcctactttggctgggggcgt	13	12	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:2968197C>T	ENST00000359843.3	-	9	1967	c.1899G>A	c.(1897-1899)ggG>ggA	p.G633G	Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Silent_p.G671G|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.G618G|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	633					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AATCCAGTCCCCCTACTTTGG	0.602																																																	0								ENSG00000111206						51	61	57					12																	2968197		2201	4300	6501	FOXM1	SO:0001819	synonymous_variant	0			-	HGNC	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1899G>A	12.37:g.2968197C>T		Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G671	ENST00000359843.3	37	c.2013	CCDS8515.1	12																																																																																			-	NULL		0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	protein_coding	OTTHUMT00000398272.1	C	NM_021953	-		2968197	-1	no_errors	ENST00000342628	ensembl	human	known	74_37	silent	SNP	0.000	T	T	2968197	C	T	2968197	2	4	112	1	0	0	0	0	0	0	0	1	6020	610	22	2		2	FOXM1	12	2968197	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		2968197	130883698	670	8165											
GALNT8	26290	genome.wustl.edu	37	chr12	4848348	4848348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgtcttcggaagacatatCcttcccaactcccatccctc	5	16	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:4848348C>T	ENST00000252318.2	+	3	866	c.529C>T	c.(529-531)Cct>Tct	p.P177S	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	177					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAAGACATATCCTTCCCAACT	0.393																																					Colon(108;631 1558 7270 20097 39846)												0								ENSG00000130035						118	105	109					12																	4848348		2203	4300	6503	GALNT8	SO:0001583	missense	0			-	HGNC	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.529C>T	12.37:g.4848348C>T	ENSP00000252318:p.Pro177Ser	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	40	31.03	B2RU02	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P177S	ENST00000252318.2	37	c.529	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486301	0.12641	.	.	ENSG00000130035	ENST00000252318	T	0.60040	0.22	4.45	-6.04	0.02178	.	0.539122	0.18042	N	0.153597	T	0.34861	0.0912	L	0.38175	1.15	0.27866	N	0.940201	P	0.52170	0.951	B	0.42282	0.382	T	0.39623	-0.9605	10	0.30854	T	0.27	.	3.9153	0.09220	0.1009:0.6629:0.101:0.1352	.	177	Q9NY28	GALT8_HUMAN	S	177	ENSP00000252318:P177S	ENSP00000252318:P177S	P	+	1	0	GALNT8	4718609	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.117000	0.10708	-1.358000	0.02177	-0.258000	0.10820	CCT	-	NULL		0.393	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	protein_coding	OTTHUMT00000388277.2	C	NM_017417	-		4848348	1	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	SNP	0.505	T	T	4848348	C	T	4848348	3	4	112	1	0	0	0	0	1	0	0	0	6221	855	30	2	539	2	GALNT8	12	4848348	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1880151	4848348	129003547	671	8166											
PLEKHG6	55200	genome.wustl.edu	37	chr12	6436547	6436547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcccaggcacccccacgGggtcccgctccccactgagc	10	20	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:6436547G>A	ENST00000396988.3	+	15	2028	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.G568R|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.G600R|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.G130R	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	600						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CACCCCCACGGGGTCCCGCTC	0.627																																																	0								ENSG00000008323						113	116	115					12																	6436547		2203	4300	6503	PLEKHG6	SO:0001583	missense	0			-	HGNC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1798G>A	12.37:g.6436547G>A	ENSP00000380185:p.Gly600Arg	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G600R	ENST00000396988.3	37	c.1798	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	8.442	0.850995	0.17034	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.62364	0.14;0.14;0.03	5.13	3.18	0.36537	.	1.107710	0.06813	N	0.790778	T	0.46483	0.1395	L	0.27053	0.805	0.09310	N	1	P;P	0.44429	0.835;0.622	B;B	0.40066	0.318;0.169	T	0.27706	-1.0066	10	0.20519	T	0.43	-2.0494	5.7235	0.18000	0.0991:0.0:0.7093:0.1916	.	568;600	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	R	600;600;568;130	ENSP00000011684:G600R;ENSP00000380185:G600R;ENSP00000393194:G568R	ENSP00000011684:G600R	G	+	1	0	PLEKHG6	6306808	0.000000	0.05858	0.136000	0.22124	0.147000	0.21601	0.636000	0.24644	1.151000	0.42436	-0.258000	0.10820	GGG	-	NULL		0.627	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	protein_coding	OTTHUMT00000399031.1	G	NM_018173	-		6436547	1	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	SNP	0.001	A	A	6436547	G	A	6436547	3	1	112	1	0	0	0	0	1	0	0	0	12076	1232	43	2	1898	2	PLEKHG6	12	6436547	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1588199	6436547	127415348	672	8167											
NCAPD2	9918	genome.wustl.edu	37	chr12	6636085	6636085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcaatgctccccactttCctgttgatgaacctgctgtc	7	16	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:6636085C>T	ENST00000315579.5	+	22	3562	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	NCAPD2_ENST00000545962.1_Silent_p.F876F|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	921					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCCCACTTTCCTGTTGATGA	0.572																																																	0								ENSG00000010292						73	77	76					12																	6636085		2203	4300	6503	NCAPD2	SO:0001819	synonymous_variant	0			-	HGNC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2763C>T	12.37:g.6636085C>T		Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	D3DUR4|Q8N6U3	Silent	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.F921	ENST00000315579.5	37	c.2763	CCDS8548.1	12																																																																																			-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.572	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	protein_coding	OTTHUMT00000399964.1	C	NM_014865	-		6636085	1	no_errors	ENST00000315579	ensembl	human	known	74_37	silent	SNP	0.791	T	T	6636085	C	T	6636085	2	4	112	1	0	0	0	0	0	0	0	1	10207	854	30	2		2	NCAPD2	12	6636085	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	199538	6636085	127215810	673	8168											
CD163L1	283316	genome.wustl.edu	37	chr12	7528586	7528586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagcagggcatatcagctCcaaccagcctgggctgcctg	12	14	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:7528586C>T	ENST00000313599.3	-	10	2453	c.2396G>A	c.(2395-2397)gGa>gAa	p.G799E	CD163L1_ENST00000396630.1_Missense_Mutation_p.G799E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.G809E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	799	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATATCAGCTCCAACCAGCCT	0.453																																																	0								ENSG00000177675						61	62	62					12																	7528586		2202	4300	6502	CD163L1	SO:0001583	missense	0			-	HGNC	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2396G>A	12.37:g.7528586C>T	ENSP00000315945:p.Gly799Glu	Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G799E	ENST00000313599.3	37	c.2396	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457362	0.43634	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.33654	1.4;1.4;1.4	2.84	0.656	0.17844	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.142683	0.31301	U	0.007890	T	0.57213	0.2038	M	0.89534	3.04	0.23336	N	0.997884	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.45512	-0.9256	10	0.72032	D	0.01	.	3.0029	0.06019	0.0:0.4674:0.2367:0.2959	.	809;799	E7EVK4;Q9NR16	.;C163B_HUMAN	E	799;809;799	ENSP00000315945:G799E;ENSP00000393474:G809E;ENSP00000379871:G799E	ENSP00000315945:G799E	G	-	2	0	CD163L1	7419853	0.010000	0.17322	0.091000	0.20842	0.145000	0.21501	0.546000	0.23284	0.503000	0.28060	0.455000	0.32223	GGA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.453	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	C	NM_174941	-		7528586	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	SNP	0.609	T	T	7528586	C	T	7528586	3	4	112	1	0	0	0	0	1	0	0	0	2970	855	30	2	2005	2	CD163L1	12	7528586	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	892501	7528586	126323309	674	8169											
CD163	9332	genome.wustl.edu	37	chr12	7640497	7640497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccagatctgtccatttCcctctccaaagtgagctccc	6	17	2	2	rs369056300		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:7640497C>T	ENST00000359156.4	-	7	1809	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.G524E|CD163_ENST00000432237.2_Missense_Mutation_p.G536E|CD163_ENST00000396620.3_Missense_Mutation_p.G536E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	536	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTGTCCATTTCCCTCTCCAAA	0.532																																																	0								ENSG00000177575						96	84	88					12																	7640497		2203	4300	6503	CD163	SO:0001583	missense	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1607G>A	12.37:g.7640497C>T	ENSP00000352071:p.Gly536Glu	Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G536E	ENST00000359156.4	37	c.1607	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325302	0.60743	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.21	5.21	0.72293	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.158399	0.43747	D	0.000524	T	0.65196	0.2668	M	0.85710	2.77	0.46542	D	0.999099	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.70981	-0.4724	10	0.87932	D	0	.	16.6253	0.84968	0.0:1.0:0.0:0.0	.	536;536;536	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	E	536;524;536;536	ENSP00000352071:G536E;ENSP00000444071:G524E;ENSP00000379863:G536E;ENSP00000403885:G536E	ENSP00000352071:G536E	G	-	2	0	CD163	7531764	0.475000	0.25894	0.981000	0.43875	0.442000	0.32017	3.247000	0.51422	2.592000	0.87571	0.655000	0.94253	GGA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.532	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416	-		7640497	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7640497	C	T	7640497	3	4	112	1	0	0	0	0	1	0	0	0	2969	855	30	2	1903	2	CD163	12	7640497	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	111911	7640497	126211398	675	8170											
CLEC4D	338339	genome.wustl.edu	37	chr12	8673727	8673727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgttctttcagattctggCataagaatgaacccgacaac	8	9	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:8673727C>A	ENST00000299665.2	+	6	701	c.508C>A	c.(508-510)Cat>Aat	p.H170N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	170	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CAGATTCTGGCATAAGAATGA	0.338																																																	0								ENSG00000166527						119	114	116					12																	8673727		2203	4300	6503	CLEC4D	SO:0001583	missense	0			-	HGNC	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.508C>A	12.37:g.8673727C>A	ENSP00000299665:p.His170Asn	Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	66	14.29	Q8N5J5	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.H170N	ENST00000299665.2	37	c.508	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	C	4.603	0.112097	0.08831	.	.	ENSG00000166527	ENST00000299665	T	0.16324	2.35	4.22	0.586	0.17434	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.12902	0.0313	L	0.31420	0.93	0.20638	N	0.99987	B	0.30634	0.288	B	0.38194	0.267	T	0.41998	-0.9477	9	0.19590	T	0.45	.	6.6805	0.23117	0.3293:0.3744:0.2964:0.0	.	170	Q8WXI8	CLC4D_HUMAN	N	170	ENSP00000299665:H170N	ENSP00000299665:H170N	H	+	1	0	CLEC4D	8564994	0.129000	0.22400	0.251000	0.24312	0.025000	0.11179	0.031000	0.13710	0.093000	0.17368	-0.195000	0.12781	CAT	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.338	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	protein_coding	OTTHUMT00000400565.1	C	NM_080387	-		8673727	1	no_errors	ENST00000299665	ensembl	human	known	74_37	missense	SNP	0.265	A	A	8673727	C	A	8673727	3	1	112	1	0	0	0	0	1	0	0	0	3516	710	25	3	530	3	CLEC4D	12	8673727	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1033230	8673727	125178168	676	8171											
A2M	2	genome.wustl.edu	37	chr12	9266087	9266087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctcagaaggacacagcCcttctcagtggtctcagtgt	11	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:9266087C>T	ENST00000318602.7	-	2	446	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	47					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGACACAGCCCTTCTCAGTG	0.532																																																	0								ENSG00000175899						138	141	140					12																	9266087		2203	4300	6503	A2M	SO:0001583	missense	0			-	HGNC	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.139G>A	12.37:g.9266087C>T	ENSP00000323929:p.Gly47Ser	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.G47S	ENST00000318602.7	37	c.139	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	5.728	0.318853	0.10845	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.06849	3.25;3.25	4.74	2.89	0.33648	TonB box, conserved site (1);	1.083580	0.07091	N	0.838792	T	0.07683	0.0193	L	0.38175	1.15	0.25614	N	0.98647	B	0.12013	0.005	B	0.06405	0.002	T	0.42103	-0.9471	10	0.27785	T	0.31	.	6.118	0.20137	0.1854:0.7166:0.0:0.098	.	47	P01023	A2MG_HUMAN	S	47;62;47	ENSP00000323929:G47S;ENSP00000385710:G47S	ENSP00000323929:G47S	G	-	1	0	A2M	9157354	0.000000	0.05858	0.793000	0.32043	0.374000	0.29953	0.016000	0.13377	0.530000	0.28619	-0.158000	0.13435	GGC	-	NULL		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	protein_coding	OTTHUMT00000317233.2	C	NM_000014	-		9266087	-1	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	SNP	0.783	T	T	9266087	C	T	9266087	3	4	112	1	0	0	0	0	1	0	0	0	4	623	22	2	4425	2	A2M	12	9266087	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	592360	9266087	124585808	677	8172											
TAS2R9	50835	genome.wustl.edu	37	chr12	10962049	10962049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcagtcgaatctgcttgGtgtgtctaactagggagaaa	12	7	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:10962049G>A	ENST00000240691.2	-	1	718	c.626C>T	c.(625-627)aCc>aTc	p.T209I	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	209					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.T209N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATCTGCTTGGTGTGTCTAAC	0.478																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000121381						81	82	82					12																	10962049		2203	4300	6503	TAS2R9	SO:0001583	missense	0			-	HGNC	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.626C>T	12.37:g.10962049G>A	ENSP00000240691:p.Thr209Ile	Somatic	0	72	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	43	39.44	Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP							pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.T209I	ENST00000240691.2	37	c.626	CCDS8633.1	12	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443942	0.25987	.	.	ENSG00000121381	ENST00000240691	T	0.00737	5.76	4.14	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.368719	0.20653	U	0.088162	T	0.01124	0.0037	L	0.48642	1.525	0.09310	N	1	B	0.29378	0.243	B	0.40444	0.329	T	0.44757	-0.9307	10	0.37606	T	0.19	.	3.546	0.07828	0.211:0.0:0.5885:0.2005	.	209	Q9NYW1	TA2R9_HUMAN	I	209	ENSP00000240691:T209I	ENSP00000240691:T209I	T	-	2	0	TAS2R9	10853316	0.000000	0.05858	0.249000	0.24280	0.008000	0.06430	-0.863000	0.04259	0.464000	0.27142	0.650000	0.86243	ACC	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.478	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R9	protein_coding	OTTHUMT00000399933.1	G		-		10962049	-1	no_errors	ENST00000240691	ensembl	human	known	74_37	missense	SNP	0.182	A	A	10962049	G	A	10962049	3	1	112	1	0	0	0	0	1	0	0	0	15595	1261	44	2	316	2	TAS2R9	12	10962049	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1695962	10962049	122889846	678	8173											
GRIN2B	2904	genome.wustl.edu	37	chr12	13715942	13715942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcgacgcccccgccacCgtgggctgcctgaagaagta	12	15	0	2	rs149655315		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:13715942C>T	ENST00000609686.1	-	13	4439	c.4230G>A	c.(4228-4230)acG>acA	p.T1410T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1410					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCCCGCCACCGTGGGCTGCC	0.627																																																	0								ENSG00000273079	C		2,4404	4.2+/-10.8	0,2,2201	34	36	35		4230	2.4	1	12	dbSNP_134	35	0,8600		0,0,4300	no	coding-synonymous	GRIN2B	NM_000834.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1410/1485	13715942	2,13004	2203	4300	6503	GRIN2B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4230G>A	12.37:g.13715942C>T		Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP							pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T1410	ENST00000609686.1	37	c.4230	CCDS8662.1	12																																																																																			-	pfam_NMDAR2_C		0.627	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	protein_coding	OTTHUMT00000268014.2	C		rs149655315		13715942	-1	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	SNP	1.000	T	T	13715942	C	T	13715942	2	4	112	1	0	0	0	0	0	0	0	1	6782	639	23	1		1	GRIN2B	12	13715942	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2753893	13715942	120135953	679	8174											
ABCC9	10060	genome.wustl.edu	37	chr12	21968812	21968812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgtggccaatgttctGgaacttgagaaggatctgga	12	7	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:21968812G>A	ENST00000261201.4	-	32	3907	c.3908C>T	c.(3907-3909)cCa>cTa	p.P1303L	ABCC9_ENST00000345162.2_Missense_Mutation_p.P1267L|ABCC9_ENST00000261200.4_Missense_Mutation_p.P1303L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1303					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCAATGTTCTGGAACTTGAGA	0.378																																																	0								ENSG00000069431						127	115	119					12																	21968812		2203	4300	6503	ABCC9	SO:0001583	missense	0			-	HGNC	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3908C>T	12.37:g.21968812G>A	ENSP00000261201:p.Pro1303Leu	Somatic	0	125	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	103	21.37	O60707	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.P1303L	ENST00000261201.4	37	c.3908	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504214	0.85176	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	4.95	4.95	0.65309	.	0.053451	0.85682	D	0.000000	D	0.91633	0.7356	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.92595	0.6086	10	0.87932	D	0	-13.3768	16.5312	0.84361	0.0:0.0:1.0:0.0	.	1303;1303	O60706;O60706-2	ABCC9_HUMAN;.	L	1303;930;1303;1267	ENSP00000261200:P1303L;ENSP00000440521:P930L;ENSP00000261201:P1303L;ENSP00000261202:P1267L	ENSP00000261200:P1303L	P	-	2	0	ABCC9	21860079	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.032000	0.93736	2.565000	0.86533	0.585000	0.79938	CCA	-	superfamily_P-loop_NTPase		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	protein_coding	OTTHUMT00000402230.1	G	NM_005691	-		21968812	-1	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21968812	G	A	21968812	3	1	112	1	0	0	0	0	1	0	0	0	59	1348	47	2	911	2	ABCC9	12	21968812	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8252870	21968812	111883083	680	8175											
FAR2	55711	genome.wustl.edu	37	chr12	29423519	29423519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttacatccttgtgaggcCcaaggctggccagacactgc	10	13	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:29423519C>T	ENST00000536681.3	+	2	383	c.137C>T	c.(136-138)cCc>cTc	p.P46L	FAR2_ENST00000547116.1_Intron|FAR2_ENST00000182377.4_Missense_Mutation_p.P46L	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	46					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTGTGAGGCCCAAGGCTGGC	0.527																																																	0								ENSG00000064763						67	65	66					12																	29423519		2203	4300	6503	FAR2	SO:0001583	missense	0			-	HGNC	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.137C>T	12.37:g.29423519C>T	ENSP00000443291:p.Pro46Leu	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.67	F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP							pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.P46L	ENST00000536681.3	37	c.137	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450496	0.43531	.	.	ENSG00000064763	ENST00000536681;ENST00000182377	T;T	0.42513	0.97;0.97	5.3	3.43	0.39272	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.058263	0.64402	D	0.000001	T	0.64605	0.2613	M	0.86953	2.85	0.80722	D	1	D	0.59357	0.985	P	0.62298	0.9	T	0.69461	-0.5139	10	0.72032	D	0.01	-18.2554	12.3193	0.54975	0.3079:0.6921:0.0:0.0	.	46	Q96K12	FACR2_HUMAN	L	46	ENSP00000443291:P46L;ENSP00000182377:P46L	ENSP00000182377:P46L	P	+	2	0	FAR2	29314786	1.000000	0.71417	0.995000	0.50966	0.061000	0.15899	5.659000	0.68010	0.583000	0.29574	-0.314000	0.08810	CCC	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like		0.527	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	protein_coding	OTTHUMT00000403479.2	C	NM_018099	-		29423519	1	no_errors	ENST00000182377	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29423519	C	T	29423519	3	4	112	1	0	0	0	0	1	0	0	0	5677	623	22	2	139	2	FAR2	12	29423519	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7454707	29423519	104428376	681	8176											
DDX11	1663	genome.wustl.edu	37	chr12	31236933	31236933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaggcctgctggagaaCcggcctgggttactcagttt	13	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:31236933C>T	ENST00000407793.2	+	3	582	c.331C>T	c.(331-333)Ccg>Tcg	p.P111S	DDX11_ENST00000228264.6_Missense_Mutation_p.P85S|DDX11_ENST00000542838.1_Missense_Mutation_p.P111S|DDX11_ENST00000251758.5_Missense_Mutation_p.P111S|DDX11_ENST00000545668.1_Missense_Mutation_p.P111S|DDX11_ENST00000350437.4_Missense_Mutation_p.P111S	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	111	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)					TGCTGGAGAACCGGCCTGGGT	0.557										Multiple Myeloma(12;0.14)																																							0								ENSG00000013573						52	65	61					12																	31236933		2203	4296	6499	DDX11	SO:0001583	missense	0			-	HGNC	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.331C>T	12.37:g.31236933C>T	ENSP00000384703:p.Pro111Ser	Somatic	0	197	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	113	40.84	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.P111S	ENST00000407793.2	37	c.331	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153112	0.57259	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T;T	0.59364	3.91;3.91;3.91;3.91;0.27;3.91;3.91;3.91;3.91	4.57	4.57	0.56435	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.116233	0.64402	D	0.000013	T	0.74596	0.3737	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.982;0.974;0.985;0.99	T	0.77027	-0.2740	10	0.54805	T	0.06	.	14.9443	0.71016	0.0:1.0:0.0:0.0	.	111;111;111;111	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	S	111;111;111;85;111;85;111;111;147	ENSP00000443426:P111S;ENSP00000384703:P111S;ENSP00000251758:P111S;ENSP00000228264:P85S;ENSP00000407646:P111S;ENSP00000406457:P85S;ENSP00000440402:P111S;ENSP00000309965:P111S;ENSP00000440171:P147S	ENSP00000228264:P85S	P	+	1	0	DDX11	31128200	1.000000	0.71417	0.821000	0.32701	0.086000	0.17979	6.428000	0.73383	2.377000	0.81083	0.505000	0.49811	CCG	-	superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.557	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	protein_coding	OTTHUMT00000399728.1	C	NM_030653	-		31236933	1	no_errors	ENST00000407793	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31236933	C	T	31236933	3	4	112	1	0	0	0	0	1	0	0	0	4345	507	18	2	337	2	DDX11	12	31236933	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1813414	31236933	102614962	682	8177											
C12orf35	55196	genome.wustl.edu	37	chr12	32134658	32134658	+	Missense_Mutation	SNP	C	C	T													taaattctgtattaactttaCcatcaaggcagacctcagct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:32134658C>T	ENST00000312561.4	+	4	1183	c.769C>T	c.(769-771)Cca>Tca	p.P257S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	257																	ATTAACTTTACCATCAAGGCA	0.393																																																	0								ENSG00000174718						74	76	75					12																	32134658		2203	4300	6503	KIAA1551	SO:0001583	missense	0			-	HGNC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.769C>T	12.37:g.32134658C>T	ENSP00000310338:p.Pro257Ser	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP							NULL	p.P257S	ENST00000312561.4	37	c.769	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850329	0.17034	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05649	4.06;3.41	5.68	3.86	0.44501	.	1.076680	0.07244	N	0.864766	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.30782	0.12	T	0.48222	-0.9054	9	.	.	.	.	7.5036	0.27532	0.1637:0.7523:0.0:0.084	.	257	Q9HCM1	CL035_HUMAN	S	257	ENSP00000310338:P257S;ENSP00000370442:P257S	.	P	+	1	0	C12orf35	32025925	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.978000	0.29488	0.746000	0.32786	-0.143000	0.13931	CCA	-	NULL		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	protein_coding	OTTHUMT00000250307.2	C	NM_018169	-		32134658	1	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	SNP	0.001	T	T	32134658	C	T	32134658	3	4	112	1	0	0	0	0	1	0	0	0	1684	507	18	2	771	2	C12orf35	12	32134658	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	897725	32134658	101717237	683	8178	125	2									
C12orf35	55196	genome.wustl.edu	37	chr12	32134659	32134659	+	Missense_Mutation	SNP	C	C	T													aaattctgtattaactttacCatcaaggcagacctcagctg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:32134659C>T	ENST00000312561.4	+	4	1184	c.770C>T	c.(769-771)cCa>cTa	p.P257L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	257																	TTAACTTTACCATCAAGGCAG	0.393																																																	0								ENSG00000174718						75	76	76					12																	32134659		2203	4300	6503	KIAA1551	SO:0001583	missense	0			-	HGNC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.770C>T	12.37:g.32134659C>T	ENSP00000310338:p.Pro257Leu	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP							NULL	p.P257L	ENST00000312561.4	37	c.770	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	11.00	1.508896	0.27036	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05925	4.01;3.37	5.68	-11.0	0.00169	.	1.076680	0.07244	N	0.864766	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42548	-0.9445	9	.	.	.	.	3.8958	0.09139	0.1978:0.4539:0.12:0.2282	.	257	Q9HCM1	CL035_HUMAN	L	257	ENSP00000310338:P257L;ENSP00000370442:P257L	.	P	+	2	0	C12orf35	32025926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.182000	0.09726	-1.336000	0.02238	-1.099000	0.02127	CCA	-	NULL		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	protein_coding	OTTHUMT00000250307.2	C	NM_018169	-		32134659	1	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	SNP	0.000	T	T	32134659	C	T	32134659	3	4	112	1	0	0	0	0	1	0	0	0	1684	594	21	2	772	2	C12orf35	12	32134659	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	32134659	101717236	684	8179	125	2									
SFRS2IP	9169	genome.wustl.edu	37	chr12	46357927	46357927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttatctcccatatttagGgtacatacagttttcttctt	4	9	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:46357927G>A	ENST00000369367.3	-	2	257	c.24C>T	c.(22-24)acC>acT	p.T8T	SCAF11_ENST00000395454.2_Silent_p.T8T|SCAF11_ENST00000395453.2_Silent_p.T8T|SCAF11_ENST00000419565.2_Silent_p.T8T	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	8					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CCATATTTAGGGTACATACAG	0.299																																																	0								ENSG00000139218						89	83	85					12																	46357927		1786	4051	5837	SCAF11	SO:0001819	synonymous_variant	0			-	HGNC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.24C>T	12.37:g.46357927G>A		Somatic	0	232	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	146	20.97	A6NEU9|A6NLW5|Q8IW59	Silent	SNP							smart_Znf_RING,pfscan_Znf_RING	p.T8	ENST00000369367.3	37	c.24	CCDS8748.2	12																																																																																			-	NULL		0.299	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	protein_coding	OTTHUMT00000313992.2	G	NM_004719	-		46357927	-1	no_errors	ENST00000369367	ensembl	human	known	74_37	silent	SNP	0.006	A	A	46357927	G	A	46357927	2	1	112	1	0	0	0	0	0	0	0	1	14185	1219	43	2		2	SFRS2IP	12	46357927	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	14223268	46357927	87493968	685	8180											
SLC38A4	55089	genome.wustl.edu	37	chr12	47173580	47173580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctaaatttttaaggagcGaaagtggaagaataattcca	8	5	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:47173580G>A	ENST00000447411.1	-	8	847	c.641C>T	c.(640-642)tCg>tTg	p.S214L	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S214L	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	214					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTTAAGGAGCGAAAGTGGAAG	0.308																																																	0								ENSG00000139209						62	60	61					12																	47173580		2203	4299	6502	SLC38A4	SO:0001583	missense	0			-	HGNC	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.641C>T	12.37:g.47173580G>A	ENSP00000389843:p.Ser214Leu	Somatic	0	120	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	79	30.09	A8K553	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.S214L	ENST00000447411.1	37	c.641	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651051	0.88056	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477	T;T;T	0.03889	3.77;3.77;3.77	5.4	5.4	0.78164	.	0.120500	0.64402	D	0.000015	T	0.28101	0.0693	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.03221	-1.1059	10	0.72032	D	0.01	-20.5436	19.5387	0.95266	0.0:0.0:1.0:0.0	.	214	Q969I6	S38A4_HUMAN	L	214	ENSP00000389843:S214L;ENSP00000266579:S214L;ENSP00000450071:S214L	ENSP00000266579:S214L	S	-	2	0	SLC38A4	45459847	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.420000	0.97426	2.686000	0.91538	0.555000	0.69702	TCG	-	pfam_AA_transpt_TM		0.308	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	protein_coding	OTTHUMT00000404574.1	G		-		47173580	-1	no_errors	ENST00000266579	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47173580	G	A	47173580	3	1	112	1	0	0	0	0	1	0	0	0	14614	1059	37	1	1038	1	SLC38A4	12	47173580	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	815653	47173580	86678315	686	8181											
BIN2	51411	genome.wustl.edu	37	chr12	51685941	51685941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctctatttcctcctcttCtaagagctccttgatctcag	4	14	4	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:51685941C>T	ENST00000267012.4	-	10	1010	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	BIN2_ENST00000452142.2_Missense_Mutation_p.E285K|BIN2_ENST00000544402.1_Missense_Mutation_p.E291K|BIN2_ENST00000604560.1_Missense_Mutation_p.E290K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	317					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCCTCCTCTTCTAAGAGCTCC	0.527																																																	0								ENSG00000110934						68	65	66					12																	51685941		2203	4300	6503	BIN2	SO:0001583	missense	0			-	HGNC	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.949G>A	12.37:g.51685941C>T	ENSP00000267012:p.Glu317Lys	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP							pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.E317K	ENST00000267012.4	37	c.949	CCDS8811.1	12	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.176914	0.01646	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96716	-4.1;0.04;0.04	4.68	1.12	0.20585	.	1.521620	0.03887	N	0.278109	D	0.86834	0.6028	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.80714	-0.1259	10	0.22706	T	0.39	-1.2572	2.9582	0.05883	0.0:0.2689:0.2358:0.4953	.	291;285;317	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	K	285;317;291	ENSP00000410217:E285K;ENSP00000267012:E317K;ENSP00000445874:E291K	ENSP00000267012:E317K	E	-	1	0	BIN2	49972208	0.035000	0.19736	0.127000	0.21898	0.408000	0.30992	0.338000	0.19858	0.400000	0.25396	0.655000	0.94253	GAA	-	NULL		0.527	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	protein_coding	OTTHUMT00000469800.1	C		-		51685941	-1	no_errors	ENST00000267012	ensembl	human	known	74_37	missense	SNP	0.281	T	T	51685941	C	T	51685941	3	4	112	1	0	0	0	0	1	0	0	0	1433	922	32	2	764	2	BIN2	12	51685941	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4512361	51685941	82165954	687	8182											
C12orf44	60673	genome.wustl.edu	37	chr12	52470782	52470782	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgagaagatcatcaacatCgtggaggtgatgaatcggca	13	7	2	4	rs373128893		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:52470782C>T	ENST00000336854.4	+	4	943	c.465C>T	c.(463-465)atC>atT	p.I155I	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		155					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TCATCAACATCGTGGAGGTGA	0.582																																																	0								ENSG00000123395	C	,	0,4406		0,0,2203	165	126	139		465,465	-7.1	0.4	12		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C12orf44	NM_001098673.1,NM_021934.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	155/219,155/219	52470782	1,13005	2203	4300	6503	C12orf44	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000336854.4:c.465C>T	12.37:g.52470782C>T		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	Q9HAE2|Q9HBN1	Silent	SNP							pfam_ATG101	p.I155	ENST00000336854.4	37	c.465	CCDS8820.1	12																																																																																			-	pfam_ATG101		0.582	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	protein_coding	OTTHUMT00000405063.1	C		-		52470782	1	no_errors	ENST00000336854	ensembl	human	known	74_37	silent	SNP	0.153	T	T	52470782	C	T	52470782	2	4	112	1	0	0	0	0	0	0	0	1	1692	874	31	1		1	C12orf44	12	52470782	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	784841	52470782	81381113	688	8183											
KRT85	3891	genome.wustl.edu	37	chr12	52758847	52758847	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcccgccgcagagtctcGatgtagccactgaacagtgg	12	14	1	2	rs180717956		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:52758847G>A	ENST00000257901.3	-	2	603	c.528C>T	c.(526-528)atC>atT	p.I176I	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	176	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGAGTCTCGATGTAGCCAC	0.617													g|||	1	0.000199681	0	0	5008	,	,		18250	0		0.001	False		,,,				2504	0																0								ENSG00000135443						56	63	61					12																	52758847		2203	4296	6499	KRT85	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.528C>T	12.37:g.52758847G>A		Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	Q9NSB1	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.I176	ENST00000257901.3	37	c.528	CCDS8824.1	12																																																																																			-	pfam_IF		0.617	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	protein_coding	OTTHUMT00000405184.1	G	NM_002283	rs180717956		52758847	-1	no_errors	ENST00000257901	ensembl	human	known	74_37	silent	SNP	0.453	A	A	52758847	G	A	52758847	2	1	112	1	0	0	0	0	0	0	0	1	8501	1048	37	1		1	KRT85	12	52758847	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	288065	52758847	81093048	689	8184											
KRT4	3851	genome.wustl.edu	37	chr12	53205637	53205637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtatctagctgcttcCtcaggacactgaggtaggtc	11	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:53205637C>T	ENST00000551956.1	-	2	1079	c.587G>A	c.(586-588)aGg>aAg	p.R196K	KRT4_ENST00000293774.4_Missense_Mutation_p.R270K|KRT4_ENST00000458244.2_Missense_Mutation_p.R176K			P19013	K2C4_HUMAN	keratin 4	210	Linker 1.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TAGCTGCTTCCTCAGGACACT	0.547																																					Pancreas(190;284 2995 41444 45903)												0								ENSG00000170477						113	117	116					12																	53205637		2024	4201	6225	KRT4	SO:0001583	missense	0			-	HGNC		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.587G>A	12.37:g.53205637C>T	ENSP00000448220:p.Arg196Lys	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R270K	ENST00000551956.1	37	c.809	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177536	0.38413	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.91740	-2.9;-2.9;-2.9	4.54	4.54	0.55810	Filament (1);	0.000000	0.53938	D	0.000054	D	0.90484	0.7019	L	0.58510	1.815	0.47214	D	0.999351	B	0.26935	0.164	B	0.33690	0.168	D	0.88768	0.3262	10	0.62326	D	0.03	.	12.0228	0.53352	0.0:0.9195:0.0:0.0805	.	210	P19013	K2C4_HUMAN	K	196;270;176	ENSP00000448220:R196K;ENSP00000293774:R270K;ENSP00000387904:R176K	ENSP00000293774:R270K	R	-	2	0	KRT4	51491904	1.000000	0.71417	0.998000	0.56505	0.045000	0.14185	3.252000	0.51461	2.814000	0.96858	0.655000	0.94253	AGG	-	pfam_IF		0.547	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	protein_coding	OTTHUMT00000405931.1	C	NM_002272	-		53205637	-1	no_errors	ENST00000293774	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53205637	C	T	53205637	3	4	112	1	0	0	0	0	1	0	0	0	8479	681	24	2	1007	2	KRT4	12	53205637	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	446790	53205637	80646258	690	8185											
EIF4B	1975	genome.wustl.edu	37	chr12	53427672	53427672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctagtacctcccagtcCactcgagctgcttctatctt	6	15	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:53427672C>T	ENST00000262056.9	+	9	1388	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	EIF4B_ENST00000416762.3_Silent_p.S315S|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Silent_p.S354S	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	354					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)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTCCCAGTCCACTCGAGCTG	0.473																																																	0								ENSG00000063046						52	49	50					12																	53427672		1819	4070	5889	EIF4B	SO:0001819	synonymous_variant	0			-	HGNC	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.1062C>T	12.37:g.53427672C>T		Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S354	ENST00000262056.9	37	c.1062	CCDS41788.1	12																																																																																			-	NULL		0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	protein_coding	OTTHUMT00000404852.2	C	NM_001417	-		53427672	1	no_errors	ENST00000262056	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53427672	C	T	53427672	2	4	112	1	0	0	0	0	0	0	0	1	5029	581	21	2		2	EIF4B	12	53427672	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	222035	53427672	80424223	691	8186											
PDE1B	5153	genome.wustl.edu	37	chr12	54971042	54971042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgtccattgacgagctgtCcccctgtgaagaagaggccc	12	12	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:54971042C>T	ENST00000243052.3	+	15	1977	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	PDE1B_ENST00000550620.1_Missense_Mutation_p.S494F|PDE1B_ENST00000538346.1_Missense_Mutation_p.S473F|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	514					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GACGAGCTGTCCCCCTGTGAA	0.552																																																	0								ENSG00000123360						140	134	136					12																	54971042		2203	4300	6503	PDE1B	SO:0001583	missense	0			-	HGNC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1541C>T	12.37:g.54971042C>T	ENSP00000243052:p.Ser514Phe	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	Q92825|Q96KP3	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S514F	ENST00000243052.3	37	c.1541	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258716	0.59321	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.71934	-0.61;-0.57;-0.59	4.71	3.81	0.43845	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.704144	0.14243	N	0.331961	T	0.66197	0.2765	N	0.14661	0.345	0.80722	D	1	D;P	0.53885	0.963;0.939	P;P	0.55391	0.775;0.601	T	0.67585	-0.5633	10	0.66056	D	0.02	.	11.0426	0.47840	0.0:0.8121:0.1879:0.0	.	494;514	Q01064-2;Q01064	.;PDE1B_HUMAN	F	514;473;494	ENSP00000243052:S514F;ENSP00000442559:S473F;ENSP00000448519:S494F	ENSP00000243052:S514F	S	+	2	0	PDE1B	53257309	0.999000	0.42202	1.000000	0.80357	0.824000	0.46624	2.347000	0.44036	1.331000	0.45412	0.561000	0.74099	TCC	-	NULL		0.552	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	protein_coding	OTTHUMT00000406203.1	C		-		54971042	1	no_errors	ENST00000243052	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54971042	C	T	54971042	3	4	112	1	0	0	0	0	1	0	0	0	11636	855	30	2	1652	2	PDE1B	12	54971042	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1543370	54971042	78880853	692	8187											
KIAA0748	9840	genome.wustl.edu	37	chr12	55356787	55356787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtggggtggtggtggccGgtctcgggggcatgtgtaca	21	6	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55356787G>A	ENST00000449076.1	-	9	1027	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	TESPA1_ENST00000316577.8_Missense_Mutation_p.R299W|TESPA1_ENST00000531122.1_Missense_Mutation_p.R161W|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.R161W|TESPA1_ENST00000532804.1_Missense_Mutation_p.R161W	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	299					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GGTGGTGGCCGGTCTCGGGGG	0.542																																																	0								ENSG00000135426						64	65	65					12																	55356787		1945	4122	6067	TESPA1	SO:0001583	missense	0			-	HGNC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.895C>T	12.37:g.55356787G>A	ENSP00000400892:p.Arg299Trp	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP							NULL	p.R299W	ENST00000449076.1	37	c.895	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045851	0.36085	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.49	-1.22	0.09494	.	0.406596	0.20506	N	0.090992	T	0.50411	0.1614	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	P	0.50708	0.648	T	0.50866	-0.8777	10	0.66056	D	0.02	-5.6198	8.5627	0.33520	0.0:0.1632:0.2903:0.5465	.	299	A2RU30	K0748_HUMAN	W	161;161;299;299;161	ENSP00000435622:R161W;ENSP00000432030:R161W;ENSP00000400892:R299W;ENSP00000312679:R299W;ENSP00000433098:R161W	ENSP00000312679:R299W	R	-	1	2	KIAA0748	53643054	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.498000	0.22530	-0.001000	0.14495	0.655000	0.94253	CGG	-	NULL		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	protein_coding	OTTHUMT00000383822.1	G	NM_001098815	-		55356787	-1	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	SNP	0.001	A	A	55356787	G	A	55356787	3	1	112	1	0	0	0	0	1	0	0	0	8192	1115	39	1	678	1	KIAA0748	12	55356787	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	385745	55356787	78495108	693	8188											
NEUROD4	58158	genome.wustl.edu	37	chr12	55420286	55420286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacacaccatcctggatGgataaaggtctgggctccca	10	12	2	0	rs552404160		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55420286G>A	ENST00000242994.3	+	2	441	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	21					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M21I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CATCCTGGATGGATAAAGGTC	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		16371	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						ENSG00000123307						81	76	78					12																	55420286		2203	4300	6503	NEUROD4	SO:0001583	missense	0			-	HGNC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.63G>A	12.37:g.55420286G>A	ENSP00000242994:p.Met21Ile	Somatic	0	105	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	77	25.96	B2RAC9	Missense_Mutation	SNP							pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.M21I	ENST00000242994.3	37	c.63	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489560	0.26686	.	.	ENSG00000123307	ENST00000242994	D	0.94931	-3.56	5.25	4.36	0.52297	.	0.045710	0.85682	D	0.000000	D	0.91637	0.7357	L	0.60455	1.87	0.51767	D	0.999934	B	0.02656	0.0	B	0.04013	0.001	D	0.87587	0.2488	10	0.22109	T	0.4	-24.4641	12.2558	0.54623	0.0836:0.0:0.9164:0.0	.	21	Q9HD90	NDF4_HUMAN	I	21	ENSP00000242994:M21I	ENSP00000242994:M21I	M	+	3	0	NEUROD4	53706553	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	0.725000	0.25970	1.342000	0.45619	0.650000	0.86243	ATG	-	pirsf_TF_bHLH_NeuroD		0.433	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	protein_coding	OTTHUMT00000406104.1	G		-		55420286	1	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55420286	G	A	55420286	3	1	112	1	0	0	0	0	1	0	0	0	10352	1348	47	2	65	2	NEUROD4	12	55420286	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	63499	55420286	78431609	694	8189											
OR9K2	441639	genome.wustl.edu	37	chr12	55524235	55524235	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgatatctttttccttatCatgtattattatcttgccta	3	7	3	1	rs368474784		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55524235C>T	ENST00000305377.5	+	1	771	c.683C>T	c.(682-684)tCa>tTa	p.S228L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	228						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTTTCCTTATCATGTATTATT	0.363																																																	0								ENSG00000170605	C	LEU/SER	0,4406		0,0,2203	97	92	93		683	3.1	0	12		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR9K2	NM_001005243.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	228/336	55524235	1,13005	2203	4300	6503	OR9K2	SO:0001583	missense	0			-	HGNC	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.683C>T	12.37:g.55524235C>T	ENSP00000307598:p.Ser228Leu	Somatic	0	29	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	B9EH19|Q6IFD6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S228L	ENST00000305377.5	37	c.683	CCDS31814.1	12	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748559	0.15710	0.0	1.16E-4	ENSG00000170605	ENST00000305377	T	0.36878	1.23	4.98	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.131649	0.34268	N	0.004111	T	0.44074	0.1276	M	0.72576	2.205	0.09310	N	1	P	0.35307	0.494	B	0.43155	0.41	T	0.42766	-0.9432	10	0.87932	D	0	-9.8812	10.8528	0.46780	0.1277:0.3749:0.4975:0.0	.	228	Q8NGE7	OR9K2_HUMAN	L	228	ENSP00000307598:S228L	ENSP00000307598:S228L	S	+	2	0	OR9K2	53810502	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.417000	0.21214	0.789000	0.33779	0.650000	0.86243	TCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.363	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	protein_coding	OTTHUMT00000406105.1	C		-		55524235	1	no_errors	ENST00000305377	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55524235	C	T	55524235	3	4	112	1	0	0	0	0	1	0	0	0	11256	838	29	2	685	2	OR9K2	12	55524235	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	103949	55524235	78327660	695	8190											
OR6C6	283365	genome.wustl.edu	37	chr12	55688164	55688164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgagagtataaatgaaggGatttagtaaaggggcaattg	13	2	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55688164G>A	ENST00000358433.2	-	1	852	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	285						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(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAATGAAGGGATTTAGTAAA	0.348																																																	0								ENSG00000188324						73	80	78					12																	55688164		2202	4299	6501	OR6C6	SO:0001583	missense	0			-	HGNC		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.853C>T	12.37:g.55688164G>A	ENSP00000351211:p.Pro285Ser	Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P285S	ENST00000358433.2	37	c.853	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	16.14	3.040207	0.55003	.	.	ENSG00000188324	ENST00000358433	T	0.63417	-0.04	4.33	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.75384	0.3842	M	0.79123	2.44	0.34674	D	0.723981	D	0.89917	1.0	D	0.97110	1.0	T	0.80308	-0.1437	10	0.66056	D	0.02	.	8.531	0.33335	0.0827:0.0:0.7643:0.1531	.	285	A6NF89	OR6C6_HUMAN	S	285	ENSP00000351211:P285S	ENSP00000351211:P285S	P	-	1	0	OR6C6	53974431	1.000000	0.71417	0.929000	0.37066	0.944000	0.59088	3.587000	0.53957	0.547000	0.28938	0.644000	0.83932	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.348	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	protein_coding	OTTHUMT00000398151.1	G		-		55688164	-1	no_errors	ENST00000358433	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55688164	G	A	55688164	3	1	112	1	0	0	0	0	1	0	0	0	11196	1174	41	2	93	2	OR6C6	12	55688164	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	163929	55688164	78163731	696	8191											
OR6C6	283365	genome.wustl.edu	37	chr12	55688710	55688710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtaactcccggtaaaaGgataaaaaataattgagttg	8	6	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55688710G>A	ENST00000358433.2	-	1	306	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	103						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(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCCGGTAAAAGGATAAAAAAT	0.378																																																	0								ENSG00000188324						43	46	45					12																	55688710		2203	4300	6503	OR6C6	SO:0001583	missense	0			-	HGNC		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.307C>T	12.37:g.55688710G>A	ENSP00000351211:p.Leu103Phe	Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L103F	ENST00000358433.2	37	c.307	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	0.734	-0.778674	0.02929	.	.	ENSG00000188324	ENST00000358433	T	0.00840	5.63	4.24	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.156649	0.29676	N	0.011488	T	0.00724	0.0024	L	0.28344	0.845	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48399	-0.9039	10	0.33940	T	0.23	.	3.6944	0.08358	0.0875:0.1238:0.4421:0.3466	.	103	A6NF89	OR6C6_HUMAN	F	103	ENSP00000351211:L103F	ENSP00000351211:L103F	L	-	1	0	OR6C6	53974977	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.838000	0.04372	0.519000	0.28406	0.580000	0.79431	CTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.378	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	protein_coding	OTTHUMT00000398151.1	G		-		55688710	-1	no_errors	ENST00000358433	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55688710	G	A	55688710	3	1	112	1	0	0	0	0	1	0	0	0	11196	1000	35	2	639	2	OR6C6	12	55688710	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	546	55688710	78163185	697	8192											
OR6C65	403282	genome.wustl.edu	37	chr12	55795213	55795213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgaaacaggcccttaggGaattcaccaaaaaaatatta	8	7	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55795213G>A	ENST00000379665.2	+	1	1000	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCTTAGGGAATTCACCAA	0.353																																																	0								ENSG00000205328						36	36	36					12																	55795213		2203	4299	6502	OR6C65	SO:0001583	missense	0			-	HGNC		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.901G>A	12.37:g.55795213G>A	ENSP00000368986:p.Glu301Lys	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	50	26.47	B2RNH9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E301K	ENST00000379665.2	37	c.901	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200934	0.38905	.	.	ENSG00000205328	ENST00000379665	T	0.32988	1.43	3.92	-0.328	0.12690	.	0.541831	0.14887	U	0.292626	T	0.06096	0.0158	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33548	-0.9864	10	0.52906	T	0.07	.	3.3569	0.07172	0.3154:0.0:0.5049:0.1797	.	301	A6NJZ3	O6C65_HUMAN	K	301	ENSP00000368986:E301K	ENSP00000368986:E301K	E	+	1	0	OR6C65	54081480	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.295000	0.08298	-0.171000	0.10797	0.424000	0.28305	GAA	-	NULL		0.353	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	protein_coding	OTTHUMT00000406674.1	G		-		55795213	1	no_errors	ENST00000379665	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55795213	G	A	55795213	3	1	112	1	0	0	0	0	1	0	0	0	11197	1175	41	2	903	2	OR6C65	12	55795213	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	106503	55795213	78056682	698	8193											
OR6C2	341416	genome.wustl.edu	37	chr12	55846090	55846090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttttatctttctatttctCacctacatgttgagtgtaac	4	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55846090C>T	ENST00000322678.1	+	1	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	31					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCTATTTCTCACCTACATGT	0.403																																																	0								ENSG00000179695						127	120	122					12																	55846090		2203	4300	6503	OR6C2	SO:0001819	synonymous_variant	0			-	HGNC	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.93C>T	12.37:g.55846090C>T		Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L31	ENST00000322678.1	37	c.93	CCDS31824.1	12																																																																																			-	prints_GPCR_Rhodpsn		0.403	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	protein_coding	OTTHUMT00000406676.1	C	NM_054105	-		55846090	1	no_errors	ENST00000322678	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55846090	C	T	55846090	2	4	112	1	0	0	0	0	0	0	0	1	11193	813	29	2		2	OR6C2	12	55846090	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	50877	55846090	78005805	699	8194											
ESYT1	23344	genome.wustl.edu	37	chr12	56524694	56524694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttacatttacacgagtGgaactgggtgaaaaggtatg	11	5	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:56524694G>A	ENST00000394048.5	+	3	816	c.552G>A	c.(550-552)gtG>gtA	p.V184V	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000267113.4_Silent_p.V184V|ESYT1_ENST00000541590.1_Silent_p.V184V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	184	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TTACACGAGTGGAACTGGGTG	0.532																																																	0								ENSG00000139641						56	58	57					12																	56524694		2203	4300	6503	ESYT1	SO:0001819	synonymous_variant	0			-	HGNC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.552G>A	12.37:g.56524694G>A		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.V184	ENST00000394048.5	37	c.552	CCDS8904.1	12																																																																																			-	NULL		0.532	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	protein_coding	OTTHUMT00000407906.1	G	NM_015292	-		56524694	1	no_errors	ENST00000267113	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56524694	G	A	56524694	2	1	112	1	0	0	0	0	0	0	0	1	5266	1335	47	2		2	ESYT1	12	56524694	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	678604	56524694	77327201	700	8195											
TIMELESS	8914	genome.wustl.edu	37	chr12	56814777	56814777	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggctttgaccaaggttttCatttgaaaggactaagctac	9	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:56814777C>T	ENST00000553532.1	-	24	3160	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E1003K|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E501K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCAAGGTTTTCATTTGAAAGG	0.502																																																	0								ENSG00000111602						137	130	132					12																	56814777		2203	4300	6503	TIMELESS	SO:0001583	missense	0			-	HGNC	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3010G>A	12.37:g.56814777C>T	ENSP00000450607:p.Glu1004Lys	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33		Missense_Mutation	SNP							pfam_TIMELESS_C,pfam_Timeless	p.E1004K	ENST00000553532.1	37	c.3010	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713810	0.15306	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13089	2.62;2.62;2.62	4.8	-1.85	0.07784	Timeless C-terminal (1);	0.813085	0.11635	N	0.544381	T	0.08492	0.0211	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45086	-0.9285	10	0.07482	T	0.82	-0.0059	7.6839	0.28530	0.0:0.3489:0.4859:0.1652	.	1004	Q9UNS1	TIM_HUMAN	K	1003;1004;501	ENSP00000229201:E1003K;ENSP00000450607:E1004K;ENSP00000450848:E501K	ENSP00000229201:E1004K	E	-	1	0	TIMELESS	55101044	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.120000	0.10660	-0.136000	0.11475	-0.258000	0.10820	GAA	-	pfam_TIMELESS_C		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	protein_coding	OTTHUMT00000409771.1	C	NM_003920	-		56814777	-1	no_errors	ENST00000553532	ensembl	human	known	74_37	missense	SNP	0.000	T	T	56814777	C	T	56814777	3	4	112	1	0	0	0	0	1	0	0	0	15911	835	29	2	640	2	TIMELESS	12	56814777	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	290083	56814777	77037118	701	8196											
BAZ2A	11176	genome.wustl.edu	37	chr12	56995526	56995526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggtctagttttcccGgactgctatcaggtgtgagg	15	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:56995526G>A	ENST00000551812.1	-	20	4074	c.3881C>T	c.(3880-3882)cCg>cTg	p.P1294L	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1264L|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1262L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1292L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1294	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TAGTTTTCCCGGACTGCTATC	0.562																																																	0								ENSG00000076108						154	161	159					12																	56995526		2055	4201	6256	BAZ2A	SO:0001583	missense	0			-	HGNC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3881C>T	12.37:g.56995526G>A	ENSP00000446880:p.Pro1294Leu	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1294L	ENST00000551812.1	37	c.3881	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	14.73	2.624001	0.46840	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72051	-0.26;-0.24;-0.25;-0.62;-0.27	5.33	5.33	0.75918	.	0.216021	0.38663	N	0.001619	T	0.81009	0.4734	L	0.53249	1.67	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.72075	0.951;0.976;0.908;0.976	T	0.82174	-0.0588	10	0.72032	D	0.01	.	16.3139	0.82906	0.0:0.0:1.0:0.0	.	1292;1294;1294;1267	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	L	1264;1262;1294;230;1292	ENSP00000368754:P1264L;ENSP00000179765:P1262L;ENSP00000446880:P1294L;ENSP00000448760:P230L;ENSP00000447941:P1292L	ENSP00000179765:P1262L	P	-	2	0	BAZ2A	55281793	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.172000	0.58243	2.668000	0.90789	0.655000	0.94253	CCG	-	NULL		0.562	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	G	NM_013449	-		56995526	-1	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	SNP	0.994	A	A	56995526	G	A	56995526	3	1	112	1	0	0	0	0	1	0	0	0	1331	1116	39	1	1876	1	BAZ2A	12	56995526	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	180749	56995526	76856369	702	8197											
ATP5B	506	genome.wustl.edu	37	chr12	57033081	57033081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcaatgatatcctggaggGatttgtagtcctatgagaaa	12	5	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:57033081G>A	ENST00000262030.3	-	9	1348	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.S422F|BAZ2A_ENST00000551812.1_5'Flank|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000179765.5_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	433					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTGGAGGGATTTGTAGTC	0.433																																																	0								ENSG00000110955						60	58	59					12																	57033081		2203	4300	6503	ATP5B	SO:0001583	missense	0			-	HGNC	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1298C>T	12.37:g.57033081G>A	ENSP00000262030:p.Ser433Phe	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	A8K4X0|Q14283	Missense_Mutation	SNP							pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu	p.S433F	ENST00000262030.3	37	c.1298	CCDS8924.1	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822234	0.90873	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551020	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.69	5.69	0.88448	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.91196	3.185	0.80722	D	1	B	0.11235	0.004	B	0.20955	0.032	T	0.82400	-0.0476	10	0.72032	D	0.01	-4.569	18.6482	0.91419	0.0:0.0:1.0:0.0	.	433	P06576	ATPB_HUMAN	F	433;422;136;248	ENSP00000262030:S433F;ENSP00000450297:S422F;ENSP00000450233:S136F;ENSP00000446677:S248F	ENSP00000262030:S433F	S	-	2	0	ATP5B	55319348	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.594000	0.98254	2.712000	0.92718	0.650000	0.86243	TCC	-	pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_bsu		0.433	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5B	protein_coding	OTTHUMT00000408380.1	G	NM_001686	-		57033081	-1	no_errors	ENST00000262030	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57033081	G	A	57033081	3	1	112	1	0	0	0	0	1	0	0	0	1148	1174	41	2	299	2	ATP5B	12	57033081	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	37555	57033081	76818814	703	8198											
NACA	4666	genome.wustl.edu	37	chr12	57108172	57108172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcttttcactccgacTctgttttgctttactgactg	6	12	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:57108172T>A	ENST00000454682.1	-	5	6078	c.5797A>T	c.(5797-5799)Agt>Tgt	p.S1933C	NACA_ENST00000356769.3_Missense_Mutation_p.S70C|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000552540.1_Missense_Mutation_p.S70C|NACA_ENST00000393891.4_Missense_Mutation_p.S70C|NACA_ENST00000546392.1_Missense_Mutation_p.S70C|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000550952.1_Missense_Mutation_p.S780C	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1933	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCACTCCGACTCTGTTTTGCT	0.388			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0								ENSG00000196531						137	121	127					12																	57108172		2203	4299	6502	NACA	SO:0001583	missense	0			-	HGNC	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5797A>T	12.37:g.57108172T>A	ENSP00000403817:p.Ser1933Cys	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	35.71		Missense_Mutation	SNP							pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.S1933C	ENST00000454682.1	37	c.5797		12	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614662	0.87359	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.69806	0.24;-0.17;-0.43;0.21;0.21;0.21;0.21;0.21;0.16;0.21	4.73	4.73	0.59995	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	H	0.95294	3.65	0.58432	D	0.999999	D;D;P	0.89917	0.999;1.0;0.948	D;D;P	0.83275	0.99;0.996;0.514	D	0.90092	0.4178	10	0.87932	D	0	.	13.1877	0.59691	0.0:0.0:0.0:1.0	.	1933;780;70	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	C	68;1933;780;70;70;70;70;70;66;70	ENSP00000448039:S68C;ENSP00000403817:S1933C;ENSP00000448035:S780C;ENSP00000349212:S70C;ENSP00000447821:S70C;ENSP00000377469:S70C;ENSP00000446801:S70C;ENSP00000447133:S70C;ENSP00000450383:S66C;ENSP00000447764:S70C	ENSP00000349212:S70C	S	-	1	0	NACA	55394439	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.972000	0.88022	1.758000	0.51981	0.377000	0.23210	AGT	-	pfscan_Nas_poly-pep-assoc_cplx_dom		0.388	NACA-201	KNOWN	basic	protein_coding	NACA	protein_coding		T	NM_005594	-		57108172	-1	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57108172	T	A	57108172	3	1	112	1	0	0	0	0	1	0	0	0	10135	1551	54	5	459	5	NACA	12	57108172	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	75091	57108172	76743723	704	8199											
CPSF6	11052	genome.wustl.edu	37	chr12	69652823	69652823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccaccaccaacagatcCatatgggcgacctccaccat	7	16	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:69652823C>T	ENST00000435070.2	+	6	1258	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	CPSF6_ENST00000266679.8_Missense_Mutation_p.P420L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P310L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	383	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAACAGATCCATATGGGCGA	0.512																																																	0								ENSG00000111605						83	84	84					12																	69652823		2203	4300	6503	CPSF6	SO:0001583	missense	0			-	HGNC	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1148C>T	12.37:g.69652823C>T	ENSP00000391774:p.Pro383Leu	Somatic	0	15	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P420L	ENST00000435070.2	37	c.1259	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060598	0.36373	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.99	4.99	0.66335	.	0.092927	0.85682	D	0.000000	T	0.64427	0.2597	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.78314	0.958;0.991;0.981	T	0.61768	-0.6995	8	.	.	.	-2.1857	18.8343	0.92155	0.0:1.0:0.0:0.0	.	131;420;383	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	L	383;310;420	.	.	P	+	2	0	CPSF6	67939090	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.768000	0.62293	2.761000	0.94854	0.563000	0.77884	CCA	-	NULL		0.512	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	protein_coding	OTTHUMT00000403609.1	C	NM_007007	-		69652823	1	no_errors	ENST00000266679	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69652823	C	T	69652823	3	4	112	1	0	0	0	0	1	0	0	0	3831	594	21	2	1170	2	CPSF6	12	69652823	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12544651	69652823	64199072	705	8200											
NAV3	89795	genome.wustl.edu	37	chr12	78444660	78444660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgggccaggcatgtccgcGacttcaggcgggagatgctc	16	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:78444660G>A	ENST00000397909.2	+	11	2422	c.2249G>A	c.(2248-2250)cGa>cAa	p.R750Q	NAV3_ENST00000266692.7_Missense_Mutation_p.R750Q|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.R750Q|NAV3_ENST00000536525.2_Missense_Mutation_p.R750Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	750						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R750Q(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCATGTCCGCGACTTCAGGCG	0.562										HNSCC(70;0.22)																																							1	Substitution - Missense(1)	endometrium(1)						ENSG00000067798						77	77	77					12																	78444660		2009	4174	6183	NAV3	SO:0001583	missense	0			-	HGNC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2249G>A	12.37:g.78444660G>A	ENSP00000381007:p.Arg750Gln	Somatic	0	22	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP							pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R750Q	ENST00000397909.2	37	c.2249		12	.	.	.	.	.	.	.	.	.	.	G	36	5.700038	0.96802	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.79	5.79	0.91817	.	0.000000	0.34853	U	0.003626	T	0.41858	0.1177	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.946;0.978;0.996	T	0.18587	-1.0332	10	0.87932	D	0	-11.7221	20.031	0.97536	0.0:0.0:1.0:0.0	.	750;750;750	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	Q	750	ENSP00000446132:R750Q;ENSP00000381007:R750Q;ENSP00000228327:R750Q;ENSP00000266692:R750Q	ENSP00000228327:R750Q	R	+	2	0	NAV3	76968791	1.000000	0.71417	0.682000	0.30024	0.969000	0.65631	9.383000	0.97214	2.735000	0.93741	0.655000	0.94253	CGA	-	NULL		0.562	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	G	NM_001024383	-		78444660	1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	SNP	0.978	A	A	78444660	G	A	78444660	3	1	112	1	0	0	0	0	1	0	0	0	10187	1058	37	1	2291	1	NAV3	12	78444660	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8791837	78444660	55407235	706	8201											
NAV3	89795	genome.wustl.edu	37	chr12	78513686	78513686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaggtctcaggcagccagGatccaagtatccagatattg	10	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:78513686G>A	ENST00000397909.2	+	15	3883	c.3710G>A	c.(3709-3711)gGa>gAa	p.G1237E	NAV3_ENST00000266692.7_Missense_Mutation_p.G1237E|NAV3_ENST00000228327.6_Missense_Mutation_p.G1237E|NAV3_ENST00000536525.2_Missense_Mutation_p.G1237E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1237	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGCAGCCAGGATCCAAGTAT	0.453										HNSCC(70;0.22)																																							0								ENSG00000067798						60	60	60					12																	78513686		1881	4121	6002	NAV3	SO:0001583	missense	0			-	HGNC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3710G>A	12.37:g.78513686G>A	ENSP00000381007:p.Gly1237Glu	Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	10	50.00	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP							pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.G1237E	ENST00000397909.2	37	c.3710		12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096793	0.76870	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.34472	1.4;1.39;1.38;1.36	5.31	5.31	0.75309	.	0.000000	0.39909	U	0.001223	T	0.57858	0.2082	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;0.999;0.988	T	0.58103	-0.7695	10	0.56958	D	0.05	-14.5112	18.9828	0.92761	0.0:0.0:1.0:0.0	.	1237;1237;1237;1237	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	E	1237	ENSP00000446132:G1237E;ENSP00000381007:G1237E;ENSP00000228327:G1237E;ENSP00000266692:G1237E	ENSP00000228327:G1237E	G	+	2	0	NAV3	77037817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.535000	0.82014	2.484000	0.83849	0.655000	0.94253	GGA	-	NULL		0.453	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	G	NM_001024383	-		78513686	1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	SNP	0.999	A	A	78513686	G	A	78513686	3	1	112	1	0	0	0	0	1	0	0	0	10187	1174	41	2	3768	2	NAV3	12	78513686	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	69026	78513686	55338209	707	8202											
MYF5	4617	genome.wustl.edu	37	chr12	81111151	81111151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaggtcaaccaggctttCgaaaccctcaagaggtgtac	10	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:81111151C>T	ENST00000228644.3	+	1	461	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	103	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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						ACCAGGCTTTCGAAACCCTCA	0.602																																																	0								ENSG00000111049						65	59	61					12																	81111151		2203	4300	6503	MYF5	SO:0001819	synonymous_variant	0			-	HGNC		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.309C>T	12.37:g.81111151C>T		Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	68	23.60	Q6ISR9	Silent	SNP							pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.F103	ENST00000228644.3	37	c.309	CCDS9020.1	12																																																																																			-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.602	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	protein_coding	OTTHUMT00000407757.1	C	NM_005593	-		81111151	1	no_errors	ENST00000228644	ensembl	human	known	74_37	silent	SNP	0.994	T	T	81111151	C	T	81111151	2	4	112	1	0	0	0	0	0	0	0	1	10029	883	31	1		1	MYF5	12	81111151	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2597465	81111151	52740744	708	8203											
LIN7A	8825	genome.wustl.edu	37	chr12	81283053	81283053	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgaatagctgtacaaaactCactctgaagcacttttttga	6	9	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:81283053C>G	ENST00000552864.1	-	2	380	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	60	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTACAAAACTCACTCTGAAGC	0.363																																																	0								ENSG00000111052						121	108	112					12																	81283053		2203	4299	6502	LIN7A	SO:0001583	missense	0			-	HGNC	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.178G>C	12.37:g.81283053C>G	ENSP00000447488:p.Glu60Gln	Somatic	0	109	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	61	32.22	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP							pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.E60Q	ENST00000552864.1	37	c.178	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743654	0.89663	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.27402	2.2;1.67	5.5	5.5	0.81552	L27, C-terminal (1);L27 (2);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	L	0.43923	1.385	0.80722	D	1	P	0.45768	0.866	P	0.48873	0.593	T	0.18587	-1.0332	10	0.66056	D	0.02	-17.5453	19.3856	0.94555	0.0:1.0:0.0:0.0	.	60	O14910	LIN7A_HUMAN	Q	60;54	ENSP00000447488:E60Q;ENSP00000448975:E54Q	ENSP00000261203:E60Q	E	-	1	0	LIN7A	79807184	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.729000	0.84864	2.582000	0.87167	0.460000	0.39030	GAG	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27		0.363	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	protein_coding	OTTHUMT00000407760.1	C		-		81283053	-1	no_errors	ENST00000552864	ensembl	human	known	74_37	missense	SNP	1.000	G	G	81283053	C	G	81283053	3	3	112	1	0	0	0	0	1	0	0	0	8812	835	29	4	539	4	LIN7A	12	81283053	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	171902	81283053	52568842	709	8204											
ACSS3	79611	genome.wustl.edu	37	chr12	81536978	81536978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcctgttctttcagaAcacccactgtatattcttta	5	10	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:81536978A>G	ENST00000548058.1	+	5	1783	c.873A>G	c.(871-873)gaA>gaG	p.E291E	ACSS3_ENST00000261206.3_Silent_p.E290E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	291						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			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						TTCTTTCAGAACACCCACTGT	0.463																																																	0								ENSG00000111058						127	116	120					12																	81536978		2203	4300	6503	ACSS3	SO:0001819	synonymous_variant	0			-	HGNC		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.873A>G	12.37:g.81536978A>G		Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	Q8NC66	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.E291	ENST00000548058.1	37	c.873	CCDS9022.1	12																																																																																			-	pfam_AMP-dep_Synth/Lig		0.463	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	protein_coding	OTTHUMT00000407794.1	A	NM_024560	-		81536978	1	no_errors	ENST00000548058	ensembl	human	known	74_37	silent	SNP	0.995	G	G	81536978	A	G	81536978	2	3	112	1	0	0	0	0	0	0	0	1	190	40	2	5		5	ACSS3	12	81536978	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	253925	81536978	52314917	710	8205											
RASSF9	9182	genome.wustl.edu	37	chr12	86198702	86198702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaagtgaattgaattcCttggccaggagttcatattc	10	6	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:86198702C>T	ENST00000361228.3	-	2	1454	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	362					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)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTGAATTCCTTGGCCAGGA	0.408																																																	0								ENSG00000198774						177	177	177					12																	86198702		1862	4104	5966	RASSF9	SO:0001819	synonymous_variant	0			-	HGNC		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.1086G>A	12.37:g.86198702C>T		Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	22.58	B3KMQ4|Q8N5U8	Silent	SNP							smart_Ras-assoc,pfscan_Ras-assoc	p.K362	ENST00000361228.3	37	c.1086	CCDS44950.1	12																																																																																			-	NULL		0.408	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	protein_coding	OTTHUMT00000406109.1	C		-		86198702	-1	no_errors	ENST00000361228	ensembl	human	known	74_37	silent	SNP	0.989	T	T	86198702	C	T	86198702	2	4	112	1	0	0	0	0	0	0	0	1	13101	680	24	2		2	RASSF9	12	86198702	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4661724	86198702	47653193	711	8206											
IKBIP	121457	genome.wustl.edu	37	chr12	99007548	99007548	+	Missense_Mutation	SNP	C	C	G													tggttctaaacgggaaaagtCcttctttagattatacacct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:99007548C>G	ENST00000342502.2	-	3	1279	c.868G>C	c.(868-870)Gac>Cac	p.D290H	IKBIP_ENST00000420861.1_Missense_Mutation_p.D184H|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	290					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CGGGAAAAGTCCTTCTTTAGA	0.353																																																	0								ENSG00000166130						112	115	114					12																	99007548		2202	4300	6502	IKBIP	SO:0001583	missense	0			-	HGNC	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.868G>C	12.37:g.99007548C>G	ENSP00000343471:p.Asp290His	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP							NULL	p.D290H	ENST00000342502.2	37	c.868	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210557	0.39102	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.60299	0.2;0.61	5.43	5.43	0.79202	.	.	.	.	.	T	0.65407	0.2688	L	0.31664	0.95	0.50313	D	0.999865	D	0.89917	1.0	D	0.78314	0.991	T	0.58352	-0.7651	9	0.16420	T	0.52	.	19.2334	0.93849	0.0:1.0:0.0:0.0	.	290	Q70UQ0	IKIP_HUMAN	H	290;184	ENSP00000343471:D290H;ENSP00000398023:D184H	ENSP00000343471:D290H	D	-	1	0	IKBIP	97531679	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	6.098000	0.71458	2.546000	0.85860	0.579000	0.79373	GAC	-	NULL		0.353	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	protein_coding	OTTHUMT00000408003.2	C	NM_153687	-		99007548	-1	no_errors	ENST00000342502	ensembl	human	known	74_37	missense	SNP	1.000	G	G	99007548	C	G	99007548	3	3	112	1	0	0	0	0	1	0	0	0	7611	855	30	4	188	4	IKBIP	12	99007548	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12808846	99007548	34844347	712	8207	126	2									
IKBIP	121457	genome.wustl.edu	37	chr12	99007549	99007549	+	Silent	SNP	C	C	T													ggttctaaacgggaaaagtcCttctttagattatacacctt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:99007549C>T	ENST00000342502.2	-	3	1278	c.867G>A	c.(865-867)aaG>aaA	p.K289K	IKBIP_ENST00000420861.1_Silent_p.K183K|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	289					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GGGAAAAGTCCTTCTTTAGAT	0.348																																																	0								ENSG00000166130						112	115	114					12																	99007549		2202	4300	6502	IKBIP	SO:0001819	synonymous_variant	0			-	HGNC	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.867G>A	12.37:g.99007549C>T		Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	40	34.43	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP							NULL	p.K289	ENST00000342502.2	37	c.867	CCDS9067.1	12																																																																																			-	NULL		0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	protein_coding	OTTHUMT00000408003.2	C	NM_153687	-		99007549	-1	no_errors	ENST00000342502	ensembl	human	known	74_37	silent	SNP	1.000	T	T	99007549	C	T	99007549	2	4	112	1	0	0	0	0	0	0	0	1	7611	680	24	2		2	IKBIP	12	99007549	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	99007549	34844346	713	8208	126	2									
KIAA1033	23325	genome.wustl.edu	37	chr12	105515911	105515911	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaggttactgaaatctgtCcatcacaatccttcaaaatt	4	10	4	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:105515911C>T	ENST00000332180.5	+	10	768	c.681C>T	c.(679-681)gtC>gtT	p.V227V		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGAAATCTGTCCATCACAATC	0.289																																																	0								ENSG00000136051						62	57	59					12																	105515911		1785	4062	5847	KIAA1033	SO:0001819	synonymous_variant	0			-	HGNC	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.681C>T	12.37:g.105515911C>T		Somatic	0	152	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	105	25.00		Silent	SNP							NULL	p.V227	ENST00000332180.5	37	c.681	CCDS41826.1	12																																																																																			-	NULL		0.289	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	protein_coding	OTTHUMT00000406138.4	C	NM_015275	-		105515911	1	no_errors	ENST00000332180	ensembl	human	known	74_37	silent	SNP	1.000	T	T	105515911	C	T	105515911	2	4	112	1	0	0	0	0	0	0	0	1	8208	842	30	2		2	KIAA1033	12	105515911	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6508362	105515911	28335984	714	8209											
CKAP4	10970	genome.wustl.edu	37	chr12	106633618	106633618	+	Silent	SNP	G	G	A													aaagcctgctgctcctgcttGaggctcaccagctcgcggac							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:106633618G>A	ENST00000378026.4	-	2	1129	c.993C>T	c.(991-993)ctC>ctT	p.L331L	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	331						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						GCTCCTGCTTGAGGCTCACCA	0.622																																																	0								ENSG00000136026						34	36	35					12																	106633618		2203	4300	6503	CKAP4	SO:0001819	synonymous_variant	0			-	HGNC	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.993C>T	12.37:g.106633618G>A		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	Q504S5|Q53ES6	Silent	SNP							superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.L331	ENST00000378026.4	37	c.993	CCDS9103.1	12																																																																																			-	NULL		0.622	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	protein_coding	OTTHUMT00000407196.1	G		-		106633618	-1	no_errors	ENST00000378026	ensembl	human	known	74_37	silent	SNP	1.000	A	A	106633618	G	A	106633618	2	1	112	1	0	0	0	0	0	0	0	1	3446	1277	45	2		2	CKAP4	12	106633618	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1117707	106633618	27218277	715	8210	127	2									
CKAP4	10970	genome.wustl.edu	37	chr12	106633620	106633620	+	Missense_Mutation	SNP	G	G	A													agcctgctgctcctgcttgaGgctcaccagctcgcggacct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:106633620G>A	ENST00000378026.4	-	2	1127	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	331						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						TCCTGCTTGAGGCTCACCAGC	0.617																																																	0								ENSG00000136026						35	36	36					12																	106633620		2203	4300	6503	CKAP4	SO:0001583	missense	0			-	HGNC	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.991C>T	12.37:g.106633620G>A	ENSP00000367265:p.Leu331Phe	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	Q504S5|Q53ES6	Missense_Mutation	SNP							superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.L331F	ENST00000378026.4	37	c.991	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056514	0.76074	.	.	ENSG00000136026	ENST00000378026	T	0.79033	-1.23	5.58	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	M	0.77103	2.36	0.46521	D	0.999081	D	0.89917	1.0	D	0.87578	0.998	D	0.88375	0.2997	10	0.59425	D	0.04	-19.0995	15.3436	0.74317	0.078:0.0:0.922:0.0	.	331	Q07065	CKAP4_HUMAN	F	331	ENSP00000367265:L331F	ENSP00000367265:L331F	L	-	1	0	CKAP4	105157750	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.631000	0.54280	2.641000	0.89580	0.563000	0.77884	CTC	-	NULL		0.617	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	protein_coding	OTTHUMT00000407196.1	G		-		106633620	-1	no_errors	ENST00000378026	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106633620	G	A	106633620	3	1	112	1	0	0	0	0	1	0	0	0	3446	1000	35	2	821	2	CKAP4	12	106633620	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2	106633620	27218275	716	8211	127	2									
MTERFD3	80298	genome.wustl.edu	37	chr12	107371875	107371875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaattttagtagccaaacTttcatgttggcctcagagcc	7	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:107371875T>C	ENST00000552029.1	-	2	2686	c.618A>G	c.(616-618)aaA>aaG	p.K206K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Silent_p.K206K|MTERFD3_ENST00000392830.2_Silent_p.K206K			Q49AM1	MTEF2_HUMAN		206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTAGCCAAACTTTCATGTTGG	0.363																																																	0								ENSG00000120832						43	47	46					12																	107371875		2202	4300	6502	MTERFD3	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000552029.1:c.618A>G	12.37:g.107371875T>C		Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	48	23.81	Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP							pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.K206	ENST00000552029.1	37	c.618	CCDS9111.1	12																																																																																			-	pfam_Mit_transcrip_term-rel		0.363	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MTERFD3	protein_coding	OTTHUMT00000406835.1	T		-		107371875	-1	no_errors	ENST00000240050	ensembl	human	known	74_37	silent	SNP	1.000	C	C	107371875	T	C	107371875	2	2	112	1	0	0	0	0	0	0	0	1	9923	1606	56	5		5	MTERFD3	12	107371875	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	738255	107371875	26480020	717	8212											
SART3	9733	genome.wustl.edu	37	chr12	108938998	108938998	+	Frame_Shift_Del	DEL	A	A	-													ggtcatatgtaaaccaacagAcgagagagccctttcaaaca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:108938998delA	ENST00000228284.3	-	4	880	c.646delT	c.(646-648)tctfs	p.S216fs	SART3_ENST00000431469.2_Frame_Shift_Del_p.S216fs|SART3_ENST00000552221.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	216					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AAACCAACAGACGAGAGAGCC	0.507									Porokeratosis																																								0								ENSG00000075856						155	139	144					12																	108938998		2203	4300	6503	SART3	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis		HGNC	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.646delT	12.37:g.108938998delA	ENSP00000228284:p.Ser216fs	Somatic	0	112	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	58	27.50	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Frame_Shift_Del	DEL							pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S216fs	ENST00000228284.3	37	c.646	CCDS9117.1	12																																																																																			-	smart_HAT		0.507	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	protein_coding	OTTHUMT00000404094.1	A				108938998	-1	no_errors	ENST00000228284	ensembl	human	known	74_37	frame_shift_del	DEL	0.995	-	-	108938998	A	-	108938998	7	5	112	1	0	1	0	1	0	0	0	0	13855	275	10	0	2309	0	SART3	12	108938998	Frame_Shift_Del	DEL	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1567123	108938998	24912897	718	8213											
SART3	9733	genome.wustl.edu	37	chr12	108939020	108939020	+	Silent	SNP	G	G	A													gagagagccctttcaaacacGgagcgaactttctcaaggcc					rs549764051		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:108939020G>A	ENST00000228284.3	-	4	858	c.624C>T	c.(622-624)tcC>tcT	p.S208S	SART3_ENST00000431469.2_Silent_p.S208S|SART3_ENST00000552221.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	208					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTTCAAACACGGAGCGAACTT	0.473									Porokeratosis				G|||	1	0.000199681	8e-04	0	5008	,	,		19598	0		0	False		,,,				2504	0																0								ENSG00000075856						141	123	129					12																	108939020		2203	4300	6503	SART3	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	-	HGNC	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.624C>T	12.37:g.108939020G>A		Somatic	0	120	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	47	36.00	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP							pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S208	ENST00000228284.3	37	c.624	CCDS9117.1	12																																																																																			-	smart_HAT		0.473	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	protein_coding	OTTHUMT00000404094.1	G		-		108939020	-1	no_errors	ENST00000228284	ensembl	human	known	74_37	silent	SNP	0.999	A	A	108939020	G	A	108939020	2	1	112	1	0	0	0	0	0	0	0	1	13855	1103	39	1		1	SART3	12	108939020	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	22	108939020	24912875	719	8214	128	2									
SART3	9733	genome.wustl.edu	37	chr12	108939021	108939021	+	Missense_Mutation	SNP	G	G	A													agagagccctttcaaacacgGagcgaactttctcaaggcca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:108939021G>A	ENST00000228284.3	-	4	857	c.623C>T	c.(622-624)tCc>tTc	p.S208F	SART3_ENST00000431469.2_Missense_Mutation_p.S208F|SART3_ENST00000552221.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	208					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAAACACGGAGCGAACTTT	0.468									Porokeratosis																																								0								ENSG00000075856						140	123	128					12																	108939021		2203	4300	6503	SART3	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	-	HGNC	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.623C>T	12.37:g.108939021G>A	ENSP00000228284:p.Ser208Phe	Somatic	0	120	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	47	34.67	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP							pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S208F	ENST00000228284.3	37	c.623	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.061738	0.93846	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000550322;ENST00000550619	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.07	5.13	0.70059	.	0.105526	0.64402	D	0.000002	T	0.58018	0.2093	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.991;0.996	D;D;P;P	0.63597	0.916;0.916;0.804;0.851	T	0.59584	-0.7427	10	0.66056	D	0.02	-18.8904	16.8858	0.86075	0.0:0.1279:0.8721:0.0	.	156;208;208;208	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	F	208;208;156;208;76;76	ENSP00000228284:S208F;ENSP00000414453:S208F;ENSP00000449386:S208F;ENSP00000447324:S76F;ENSP00000449602:S76F	ENSP00000228284:S208F	S	-	2	0	SART3	107463151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.130000	0.64745	2.884000	0.98904	0.655000	0.94253	TCC	-	smart_HAT		0.468	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	protein_coding	OTTHUMT00000404094.1	G		-		108939021	-1	no_errors	ENST00000228284	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108939021	G	A	108939021	3	1	112	1	0	0	0	0	1	0	0	0	13855	1174	41	2	2332	2	SART3	12	108939021	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	108939021	24912874	720	8215	128	2									
SLC24A6	80024	genome.wustl.edu	37	chr12	113753209	113753209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagacagttgaggggccGtttccagttctggtcatcct	12	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:113753209G>A	ENST00000552014.1	-	12	1581	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	SLC8B1_ENST00000546737.1_Missense_Mutation_p.R300W|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.R356W			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	356					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TTGAGGGGCCGTTTCCAGTTC	0.622																																																	0								ENSG00000089060						76	66	69					12																	113753209		2201	4299	6500	SLC8B1	SO:0001583	missense	0			-	HGNC	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1066C>T	12.37:g.113753209G>A	ENSP00000447091:p.Arg356Trp	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP							pfam_NaCa_Exmemb	p.R356W	ENST00000552014.1	37	c.1066	CCDS31909.1	12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434082	0.83776	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63255	-0.01;-0.01;-0.03	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	T	0.79862	0.4519	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.83072	-0.0142	10	0.87932	D	0	.	12.2359	0.54516	0.0:0.0:0.7112:0.2888	.	356;61	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	W	356;356;300;300	ENSP00000447091:R356W;ENSP00000202831:R356W;ENSP00000450081:R300W	ENSP00000202831:R356W	R	-	1	2	SLC24A6	112237592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.613000	0.61176	2.229000	0.72834	0.456000	0.33151	CGG	-	NULL		0.622	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC8B1	protein_coding	OTTHUMT00000404830.3	G	NM_024959	-		113753209	-1	no_errors	ENST00000202831	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113753209	G	A	113753209	3	1	112	1	0	0	0	0	1	0	0	0	14478	1144	40	1	712	1	SLC24A6	12	113753209	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4814188	113753209	20098686	721	8216											
FBXW8	26259	genome.wustl.edu	37	chr12	117365893	117365893	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattggcaatcaatatattTcagtatctggacaggaaaga	9	5	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:117365893T>C	ENST00000309909.5	+	2	466	c.384T>C	c.(382-384)ttT>ttC	p.F128F	FBXW8_ENST00000455858.2_Silent_p.F62F			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	128	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TCAATATATTTCAGTATCTGG	0.358																																																	0								ENSG00000174989						110	102	105					12																	117365893		2203	4300	6503	FBXW8	SO:0001819	synonymous_variant	0			-	HGNC	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.384T>C	12.37:g.117365893T>C		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	Q9UK95	Silent	SNP							pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F128	ENST00000309909.5	37	c.384	CCDS9182.1	12																																																																																			-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom		0.358	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	protein_coding	OTTHUMT00000403561.1	T	NM_012174	-		117365893	1	no_errors	ENST00000309909	ensembl	human	known	74_37	silent	SNP	1.000	C	C	117365893	T	C	117365893	2	2	112	1	0	0	0	0	0	0	0	1	5772	1780	62	5		5	FBXW8	12	117365893	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	3612684	117365893	16486002	722	8217											
NOS1	4842	genome.wustl.edu	37	chr12	117718556	117718556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactgcacattggctgggtCccccagggtggagccgtcag	15	12	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:117718556C>T	ENST00000338101.4	-	7	1502	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	NOS1_ENST00000317775.6_Missense_Mutation_p.D500N|NOS1_ENST00000344089.3_3'UTR			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)			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)		TTGGCTGGGTCCCCCAGGGTG	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						45	55	52					12																	117718556		2003	4193	6196	NOS1	SO:0001583	missense	0			-	HGNC		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.1498G>A	12.37:g.117718556C>T	ENSP00000337459:p.Asp500Asn	Somatic	0	117	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	52	35.80		Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D500N	ENST00000338101.4	37	c.1498	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.416495	0.96092	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.63255	-0.03;-0.03	5.14	5.14	0.70334	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91067	0.4890	10	0.87932	D	0	-36.9951	18.7976	0.92001	0.0:1.0:0.0:0.0	.	500	P29475	NOS1_HUMAN	N	500	ENSP00000320758:D500N;ENSP00000337459:D500N	ENSP00000320758:D500N	D	-	1	0	NOS1	116202939	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	7.603000	0.82811	2.653000	0.90120	0.563000	0.77884	GAC	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	C		-		117718556	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117718556	C	T	117718556	3	4	112	1	0	0	0	0	1	0	0	0	10543	855	30	2	2894	2	NOS1	12	117718556	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	352663	117718556	16133339	723	8218											
NOS1	4842	genome.wustl.edu	37	chr12	117723054	117723054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtcagctcacctgaggttCcctttgttggtggcatactt	11	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:117723054C>T	ENST00000338101.4	-	6	1378	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	NOS1_ENST00000317775.6_Silent_p.G458G|NOS1_ENST00000344089.3_3'UTR			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)			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)		ACCTGAGGTTCCCTTTGTTGG	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						89	94	92					12																	117723054		2104	4249	6353	NOS1	SO:0001819	synonymous_variant	0			-	HGNC		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.1374G>A	12.37:g.117723054C>T		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00		Silent	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.G458	ENST00000338101.4	37	c.1374	CCDS55890.1	12																																																																																			-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	C		-		117723054	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	SNP	0.998	T	T	117723054	C	T	117723054	2	4	112	1	0	0	0	0	0	0	0	1	10543	842	30	2		2	NOS1	12	117723054	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4498	117723054	16128841	724	8219											
CCDC60	160777	genome.wustl.edu	37	chr12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcaaaaaggaccttatacGaagccggtgagtgagcccag	11	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										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)		GACCTTATACGAAGCCGGTGA	0.478																																																	0								ENSG00000183273						63	55	58					12																	119866561		2203	4299	6502	CCDC60	SO:0001583	missense	0			-	HGNC	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.164G>A	12.37:g.119866561G>A	ENSP00000333374:p.Arg55Gln	Somatic	0	85	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00		Missense_Mutation	SNP							NULL	p.R55Q	ENST00000327554.2	37	c.164	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474767	0.63737	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.64803	0.19;1.9;-0.12	4.54	4.54	0.55810	.	0.145780	0.31061	N	0.008324	T	0.71195	0.3311	L	0.47716	1.5	0.30098	N	0.807698	D	0.89917	1.0	D	0.81914	0.995	T	0.66810	-0.5829	9	.	.	.	-10.5494	13.0949	0.59187	0.0:0.0:1.0:0.0	.	55	Q8IWA6	CCD60_HUMAN	Q	55	ENSP00000445505:R55Q;ENSP00000333374:R55Q;ENSP00000443403:R55Q	.	R	+	2	0	CCDC60	118350944	0.908000	0.30866	0.959000	0.39883	0.943000	0.58893	3.769000	0.55303	2.814000	0.96858	0.655000	0.94253	CGA	-	NULL		0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	G	NM_178499	-		119866561	1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	SNP	0.962	A	A	119866561	G	A	119866561	3	1	112	1	0	0	0	0	1	0	0	0	2833	1058	37	1	170	1	CCDC60	12	119866561	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2143507	119866561	13985334	725	8220											
CCDC60	160777	genome.wustl.edu	37	chr12	119966427	119966427	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacaaccttgtaggcgccaaGaagagagaggtatccagaag	12	8	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:119966427G>A	ENST00000327554.2	+	12	1702	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	413										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)		TAGGCGCCAAGAAGAGAGAGG	0.413																																																	0								ENSG00000183273						209	199	202					12																	119966427		2203	4300	6503	CCDC60	SO:0001583	missense	0			-	HGNC	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.1237G>A	12.37:g.119966427G>A	ENSP00000333374:p.Glu413Lys	Somatic	0	98	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26		Missense_Mutation	SNP							NULL	p.E413K	ENST00000327554.2	37	c.1237	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054553	0.55218	.	.	ENSG00000183273	ENST00000327554	T	0.23950	1.88	5.42	5.42	0.78866	.	0.299346	0.27787	N	0.017849	T	0.27798	0.0684	L	0.53249	1.67	0.80722	D	1	P	0.44521	0.837	B	0.41135	0.348	T	0.02064	-1.1220	9	.	.	.	-18.1926	14.7621	0.69612	0.0:0.0:1.0:0.0	.	413	Q8IWA6	CCD60_HUMAN	K	413	ENSP00000333374:E413K	.	E	+	1	0	CCDC60	118450810	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.958000	0.63660	2.560000	0.86352	0.644000	0.83932	GAA	-	NULL		0.413	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	G	NM_178499	-		119966427	1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119966427	G	A	119966427	3	1	112	1	0	0	0	0	1	0	0	0	2833	943	33	2	1283	2	CCDC60	12	119966427	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	99866	119966427	13885468	726	8221											
ZCCHC8	55596	genome.wustl.edu	37	chr12	122958192	122958192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgctcatgtcaggtataGggctatgaattttagtggcc	11	6	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:122958192G>A	ENST00000336229.4	-	14	2106	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P421L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P270L|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P421L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	659					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCAGGTATAGGGCTATGAAT	0.448																																																	0								ENSG00000033030						175	171	172					12																	122958192		1886	4118	6004	ZCCHC8	SO:0001583	missense	0			-	HGNC	BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1976C>T	12.37:g.122958192G>A	ENSP00000337313:p.Pro659Leu	Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	45	37.50	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP							pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.P659L	ENST00000336229.4	37	c.1976		12	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465098	0.43839	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.45276	0.92;0.92;0.9;0.92	5.88	5.0	0.66597	.	0.162925	0.56097	D	0.000033	T	0.39937	0.1097	M	0.68952	2.095	0.21416	N	0.999696	B	0.11235	0.004	B	0.08055	0.003	T	0.26155	-1.0111	10	0.24483	T	0.36	-10.1672	11.2296	0.48903	0.145:0.0:0.855:0.0	.	659	Q6NZY4	ZCHC8_HUMAN	L	421;421;659;270	ENSP00000441423:P421L;ENSP00000438993:P421L;ENSP00000337313:P659L;ENSP00000440028:P270L	ENSP00000337313:P659L	P	-	2	0	ZCCHC8	121524145	0.994000	0.37717	0.016000	0.15963	0.137000	0.21094	3.581000	0.53914	1.496000	0.48567	0.650000	0.86243	CCT	-	NULL		0.448	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	protein_coding		G	NM_017612	-		122958192	-1	no_errors	ENST00000336229	ensembl	human	known	74_37	missense	SNP	0.132	A	A	122958192	G	A	122958192	3	1	112	1	0	0	0	0	1	0	0	0	17601	1000	35	2	151	2	ZCCHC8	12	122958192	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2991765	122958192	10893703	727	8222											
TMED2	10959	genome.wustl.edu	37	chr12	124069230	124069230	+	Missense_Mutation	SNP	C	C	T													gcttctggccgctctcctggCcacggtctcgggctatttcg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:124069230C>T	ENST00000262225.3	+	1	153	c.47C>T	c.(46-48)gCc>gTc	p.A16V	TMED2_ENST00000509052.2_5'Flank|RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	16	Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		GCTCTCCTGGCCACGGTCTCG	0.642																																																	0								ENSG00000086598						49	44	46					12																	124069230		2203	4300	6503	TMED2	SO:0001583	missense	0			-	HGNC	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.47C>T	12.37:g.124069230C>T	ENSP00000262225:p.Ala16Val	Somatic	0	96	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	69	16.87		Missense_Mutation	SNP							pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.A16V	ENST00000262225.3	37	c.47	CCDS9250.1	12	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899763	0.52227	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000432022;ENST00000541504	T;T	0.46819	2.16;0.86	4.25	4.25	0.50352	.	0.127004	0.51477	D	0.000082	T	0.37892	0.1020	L	0.39397	1.21	0.80722	D	1	B	0.23058	0.079	B	0.19391	0.025	T	0.16778	-1.0391	10	0.25106	T	0.35	-1.867	13.4585	0.61212	0.0:0.8415:0.1585:0.0	.	16	Q15363	TMED2_HUMAN	V	16	ENSP00000262225:A16V;ENSP00000405845:A16V	ENSP00000262225:A16V	A	+	2	0	TMED2	122635183	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.903000	0.48711	2.350000	0.79820	0.591000	0.81541	GCC	-	NULL		0.642	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	protein_coding	OTTHUMT00000400606.1	C	NM_006815	-		124069230	1	no_errors	ENST00000262225	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124069230	C	T	124069230	3	4	112	1	0	0	0	0	1	0	0	0	16011	739	26	2	49	2	TMED2	12	124069230	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1111038	124069230	9782665	728	8223	129	2									
TMED2	10959	genome.wustl.edu	37	chr12	124069231	124069231	+	Silent	SNP	C	C	T													cttctggccgctctcctggcCacggtctcgggctatttcgt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:124069231C>T	ENST00000262225.3	+	1	154	c.48C>T	c.(46-48)gcC>gcT	p.A16A	TMED2_ENST00000509052.2_5'Flank|RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	16	Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CTCTCCTGGCCACGGTCTCGG	0.642																																																	0								ENSG00000086598						49	45	46					12																	124069231		2203	4300	6503	TMED2	SO:0001819	synonymous_variant	0			-	HGNC	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.48C>T	12.37:g.124069231C>T		Somatic	0	94	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	68	17.07		Silent	SNP							pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.A16	ENST00000262225.3	37	c.48	CCDS9250.1	12																																																																																			-	NULL		0.642	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	protein_coding	OTTHUMT00000400606.1	C	NM_006815	-		124069231	1	no_errors	ENST00000262225	ensembl	human	known	74_37	silent	SNP	1.000	T	T	124069231	C	T	124069231	2	4	112	1	0	0	0	0	0	0	0	1	16011	581	21	2		2	TMED2	12	124069231	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	124069231	9782664	729	8224	129	2									
RIMBP2	23504	genome.wustl.edu	37	chr12	130926493	130926493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttggccagaaccttcacCttataggccatgttgggcct	11	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:130926493C>T	ENST00000261655.4	-	8	1516	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	RIMBP2_ENST00000535703.1_Silent_p.K359K|RIMBP2_ENST00000536002.1_Silent_p.K359K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAACCTTCACCTTATAGGCCA	0.562																																																	0								ENSG00000060709						85	72	76					12																	130926493		2203	4300	6503	RIMBP2	SO:0001819	synonymous_variant	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1353G>A	12.37:g.130926493C>T		Somatic	0	96	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	39	33.90	Q96ID2	Silent	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.K451	ENST00000261655.4	37	c.1353	CCDS31925.1	12																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	C	NM_015347	-		130926493	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	SNP	1.000	T	T	130926493	C	T	130926493	2	4	112	1	0	0	0	0	0	0	0	1	13371	680	24	2		2	RIMBP2	12	130926493	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6857262	130926493	2925402	730	8225											
EP400	57634	genome.wustl.edu	37	chr12	132551345	132551345	+	Silent	SNP	G	G	A													gttcccacttctcagctgcaGgcgcaagggcagatgcagac							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:132551345G>A	ENST00000333577.4	+	50	8797	c.8688G>A	c.(8686-8688)caG>caA	p.Q2896Q	EP400_ENST00000389561.2_Silent_p.Q2860Q|EP400_ENST00000332482.4_Silent_p.Q2823Q|EP400_ENST00000330386.6_Silent_p.Q2779Q|EP400_ENST00000389562.2_Silent_p.Q2859Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2896					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)		CTCAGCTGCAGGCGCAAGGGC	0.582																																																	0								ENSG00000183495						48	54	52					12																	132551345		2203	4300	6503	EP400	SO:0001819	synonymous_variant	0			-	HGNC	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.8688G>A	12.37:g.132551345G>A		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2896	ENST00000333577.4	37	c.8688		12																																																																																			-	NULL		0.582	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409	-		132551345	1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	SNP	1.000	A	A	132551345	G	A	132551345	2	1	112	1	0	0	0	0	0	0	0	1	5151	991	35	2		2	EP400	12	132551345	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1624852	132551345	1300550	731	8226	130	2									
EP400	57634	genome.wustl.edu	37	chr12	132551346	132551346	+	Missense_Mutation	SNP	G	G	A													ttcccacttctcagctgcagGcgcaagggcagatgcagacc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:132551346G>A	ENST00000333577.4	+	50	8798	c.8689G>A	c.(8689-8691)Gcg>Acg	p.A2897T	EP400_ENST00000389561.2_Missense_Mutation_p.A2861T|EP400_ENST00000332482.4_Missense_Mutation_p.A2824T|EP400_ENST00000330386.6_Missense_Mutation_p.A2780T|EP400_ENST00000389562.2_Missense_Mutation_p.A2860T			Q96L91	EP400_HUMAN	E1A binding protein p400	2897				A -> S (in Ref. 1; AAK97789 and 7; AAB91441). {ECO:0000305}.	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)		TCAGCTGCAGGCGCAAGGGCA	0.587																																																	0								ENSG00000183495						48	54	52					12																	132551346		2203	4300	6503	EP400	SO:0001583	missense	0			-	HGNC	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.8689G>A	12.37:g.132551346G>A	ENSP00000333602:p.Ala2897Thr	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	29.63	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A2897T	ENST00000333577.4	37	c.8689		12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133417	0.77662	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.91792	-2.91;-2.89;-2.86;-2.89;-2.87	4.52	4.52	0.55395	.	0.178985	0.37906	N	0.001887	D	0.93458	0.7913	L	0.32530	0.975	0.41024	D	0.985102	D;D;D;D	0.89917	0.997;0.998;0.998;1.0	D;D;D;D	0.87578	0.98;0.991;0.991;0.998	D	0.93598	0.6927	10	0.41790	T	0.15	.	17.2675	0.87092	0.0:0.0:1.0:0.0	.	2897;2861;2780;2860	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	T	2897;2861;2860;2824;2780;2861	ENSP00000333602:A2897T;ENSP00000374212:A2861T;ENSP00000374213:A2860T;ENSP00000331737:A2824T;ENSP00000330620:A2780T	ENSP00000330620:A2780T	A	+	1	0	EP400	131117299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.452000	0.73485	2.068000	0.61886	0.561000	0.74099	GCG	-	NULL		0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409	-		132551346	1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132551346	G	A	132551346	3	1	112	1	0	0	0	0	1	0	0	0	5151	1203	42	2	8768	2	EP400	12	132551346	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	132551346	1300549	732	8227	130	2									
GALNT9	50614	genome.wustl.edu	37	chr12	132905601	132905601	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtggtccaggcgctgcagGatggcctcacggtcccccag	15	14	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:132905601G>A	ENST00000328957.8	-	1	188	c.189C>T	c.(187-189)atC>atT	p.I63I	RP13-895J2.7_ENST00000537720.1_RNA	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	63					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGCGCTGCAGGATGGCCTCAC	0.736																																					Colon(186;2147 2752 13553 41466)												0								ENSG00000182870						15	21	19					12																	132905601		689	1587	2276	GALNT9	SO:0001819	synonymous_variant	0			-	HGNC	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.189C>T	12.37:g.132905601G>A		Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	43	38.57	Q52LR8|Q6NT54|Q8NFR1	Silent	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I63	ENST00000328957.8	37	c.189		12																																																																																			-	NULL		0.736	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	protein_coding	OTTHUMT00000402967.1	G	NM_001122636	-		132905601	-1	no_errors	ENST00000328957	ensembl	human	known	74_37	silent	SNP	1.000	A	A	132905601	G	A	132905601	2	1	112	1	0	0	0	0	0	0	0	1	6222	1164	41	2		2	GALNT9	12	132905601	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	354255	132905601	946294	733	8228											
XPO4	64328	genome.wustl.edu	37	chr13	21373400	21373400	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgcacaggacttgacaaGaaattaagaggtgggcttcg	12	8	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:21373400G>A	ENST00000255305.6	-	16	2297	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	XPO4_ENST00000400602.2_Silent_p.F742F			Q9C0E2	XPO4_HUMAN	exportin 4	742					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GACTTGACAAGAAATTAAGAG	0.418																																																	0								ENSG00000132953						205	200	201					13																	21373400		1867	4104	5971	XPO4	SO:0001819	synonymous_variant	0			-	HGNC	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2226C>T	13.37:g.21373400G>A		Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP							superfamily_ARM-type_fold	p.F742	ENST00000255305.6	37	c.2226	CCDS41872.1	13																																																																																			-	superfamily_ARM-type_fold		0.418	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	protein_coding	OTTHUMT00000044096.1	G	NM_022459	-		21373400	-1	no_errors	ENST00000255305	ensembl	human	known	74_37	silent	SNP	1.000	A	A	21373400	G	A	21373400	2	1	112	1	0	0	0	0	0	0	0	1	17453	933	33	2		2	XPO4	13	21373400	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		21373400	93796478	734	8229											
NUPL1	9818	genome.wustl.edu	37	chr13	25912826	25912826	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accacaggggcctccacattTggatttggaacaacaaataa	8	10	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:25912826T>A	ENST00000381736.3	+	15	1837	c.1587T>A	c.(1585-1587)ttT>ttA	p.F529L	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.F517L	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	529	14 X 2 AA repeats of F-G.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCTCCACATTTGGATTTGGAA	0.393																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0								ENSG00000139496						107	116	113					13																	25912826		2203	4300	6503	NUPL1	SO:0001583	missense	0			-	HGNC	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1587T>A	13.37:g.25912826T>A	ENSP00000371155:p.Phe529Leu	Somatic	0	129	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	64	35.35	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP							NULL	p.F529L	ENST00000381736.3	37	c.1587	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390255	0.82902	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.36520	1.29;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	T	0.54430	-0.8295	10	0.37606	T	0.19	-16.0214	15.9341	0.79688	0.0:0.0:0.0:1.0	.	517;529	A6NI12;Q9BVL2	.;NUPL1_HUMAN	L	529;506;517	ENSP00000371155:F529L;ENSP00000371137:F517L	ENSP00000318459:F506L	F	+	3	2	NUPL1	24810826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.593000	0.46180	2.164000	0.68074	0.456000	0.33151	TTT	-	NULL		0.393	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	protein_coding	OTTHUMT00000044228.2	T		-		25912826	1	no_errors	ENST00000381736	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25912826	T	A	25912826	3	1	112	1	0	0	0	0	1	0	0	0	10776	1809	63	5	1645	5	NUPL1	13	25912826	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	4539426	25912826	89257052	735	8230											
PRHOXNB	646625	genome.wustl.edu	37	chr13	28562733	28562733	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattcccaaacacatccacGaattctccaaggtccatgga	6	14	1	0	rs267603794		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:28562733G>A	ENST00000332715.5	-	1	58	c.42C>T	c.(40-42)ttC>ttT	p.F14F	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	14					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										ACACATCCACGAATTCTCCAA	0.512																																																	0								ENSG00000183463						103	109	107					13																	28562733		2101	4222	6323	URAD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"OHCU decarboxylase"	615804	"parahox cluster neighbor"	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.42C>T	13.37:g.28562733G>A		Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	50	33.33		Silent	SNP							pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1	p.F14	ENST00000332715.5	37	c.42	CCDS45020.1	13																																																																																			-	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1		0.512	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	URAD	protein_coding	OTTHUMT00000472432.1	G		-		28562733	-1	no_errors	ENST00000332715	ensembl	human	known	74_37	silent	SNP	0.666	A	A	28562733	G	A	28562733	2	1	112	1	0	0	0	0	0	0	0	1	12489	1049	37	1		1	PRHOXNB	13	28562733	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2649907	28562733	86607145	736	8231											
FLT1	2321	genome.wustl.edu	37	chr13	28942759	28942759	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatgatgatgacaatgGtgatgatgacgatgacgatg	14	3	0	9			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:28942759G>A	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Missense_Mutation_p.P720S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						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)	gatgacaatggtgatgatgac	0.323																																																	0								ENSG00000102755						293	323	314					13																	28942759		692	1591	2283	FLT1	SO:0001627	intron_variant	0			-	HGNC	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.2117-10937C>T	13.37:g.28942759G>A		Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.P720S	ENST00000282397.4	37	c.2158	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.795517	0.00617	.	.	ENSG00000102755	ENST00000541932	T	0.12672	2.66	.	.	.	.	.	.	.	.	T	0.06508	0.0167	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.04013	0.001	T	0.39375	-0.9617	6	0.24483	T	0.36	.	.	.	.	.	720	P17948-3	.	S	720	ENSP00000437631:P720S	ENSP00000437631:P720S	P	-	1	0	FLT1	27840759	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.064000	0.14437	-0.862000	0.04089	-0.844000	0.03045	CCA	-	smart_Ig_sub2,pfscan_Ig-like_dom		0.323	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	protein_coding	OTTHUMT00000044322.1	G		-		28942759	-1	no_errors	ENST00000541932	ensembl	human	known	74_37	missense	SNP	0.001	A	A	28942759	G	A	28942759	1	1	112	0	1	0	0	0	0	0	0	0	5943	1261	44	2		2	FLT1	13	28942759	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	380026	28942759	86227119	737	8232											
MTUS2	23281	genome.wustl.edu	37	chr13	29600062	29600062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggaggggctgataatcaGcccactggcaaaatttcacc	10	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:29600062G>A	ENST00000431530.3	+	1	1315	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	409						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						CTGATAATCAGCCCACTGGCA	0.507																																																	0								ENSG00000132938						32	34	34					13																	29600062		1916	4143	6059	MTUS2	SO:0001819	synonymous_variant	0			-	HGNC	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.1257G>A	13.37:g.29600062G>A		Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP							NULL	p.Q419	ENST00000431530.3	37	c.1257	CCDS45022.1	13																																																																																			-	NULL		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	G	XM_166270	-		29600062	1	no_errors	ENST00000431530	ensembl	human	known	74_37	silent	SNP	0.000	A	A	29600062	G	A	29600062	2	1	112	1	0	0	0	0	0	0	0	1	9968	962	34	2		2	MTUS2	13	29600062	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	657303	29600062	85569816	738	8233											
FRY	10129	genome.wustl.edu	37	chr13	32698812	32698812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagcactttaaatacaAagaagggtaagatgatttct	7	5	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:32698812A>G	ENST00000380250.3	+	6	1125	c.629A>G	c.(628-630)aAa>aGa	p.K210R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	210						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTAAATACAAAGAAGGGTAA	0.343																																																	0								ENSG00000073910						60	56	57					13																	32698812		1828	4082	5910	FRY	SO:0001583	missense	0			-	HGNC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.629A>G	13.37:g.32698812A>G	ENSP00000369600:p.Lys210Arg	Somatic	0	119	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	70	26.32	Q9Y3N6	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.K210R	ENST00000380250.3	37	c.629	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075847	0.55646	.	.	ENSG00000073910	ENST00000380250	T	0.23348	1.91	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	N	0.05592	-0.015	0.80722	D	1	B	0.32968	0.392	B	0.40982	0.345	T	0.18808	-1.0325	10	0.17832	T	0.49	.	15.5243	0.75890	1.0:0.0:0.0:0.0	.	210	Q5TBA9	FRY_HUMAN	R	210	ENSP00000369600:K210R	ENSP00000369600:K210R	K	+	2	0	FRY	31596812	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.522000	0.81844	2.081000	0.62600	0.459000	0.35465	AAA	-	NULL		0.343	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	A	NM_023037	-		32698812	1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	SNP	1.000	G	G	32698812	A	G	32698812	3	3	112	1	0	0	0	0	1	0	0	0	6065	14	1	5	651	5	FRY	13	32698812	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	3098750	32698812	82471066	739	8234											
FRY	10129	genome.wustl.edu	37	chr13	32798510	32798510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaccatcactccccgggGgccactccacaggtgagcag	13	15	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:32798510G>A	ENST00000380250.3	+	37	5400	c.4904G>A	c.(4903-4905)gGg>gAg	p.G1635E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1635						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTCCCCGGGGGCCACTCCAC	0.552																																																	0								ENSG00000073910						42	45	44					13																	32798510		1893	4121	6014	FRY	SO:0001583	missense	0			-	HGNC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4904G>A	13.37:g.32798510G>A	ENSP00000369600:p.Gly1635Glu	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	Q9Y3N6	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.G1635E	ENST00000380250.3	37	c.4904	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176469	0.57692	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22945	1.93	5.44	5.44	0.79542	.	0.057253	0.64402	D	0.000001	T	0.28995	0.0720	L	0.29908	0.895	0.80722	D	1	B	0.29671	0.254	P	0.44647	0.456	T	0.09164	-1.0687	10	0.16896	T	0.51	.	14.8137	0.70013	0.0:0.1438:0.8561:0.0	.	1635	Q5TBA9	FRY_HUMAN	E	1635;472	ENSP00000369600:G1635E	ENSP00000369600:G1635E	G	+	2	0	FRY	31696510	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.411000	0.27672	GGG	-	NULL		0.552	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	G	NM_023037	-		32798510	1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32798510	G	A	32798510	3	1	112	1	0	0	0	0	1	0	0	0	6065	1232	43	2	5050	2	FRY	13	32798510	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	99698	32798510	82371368	740	8235											
STARD13	90627	genome.wustl.edu	37	chr13	33700362	33700362	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaactttcatcctcttcatGaactttggaactgacctaga	7	10	3	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:33700362G>A	ENST00000336934.5	-	7	2054	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	STARD13_ENST00000255486.4_Silent_p.F638F|STARD13_ENST00000399365.3_Silent_p.F528F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCCTCTTCATGAACTTTGGAA	0.512																																																	0								ENSG00000133121						152	148	150					13																	33700362		2203	4300	6503	STARD13	SO:0001819	synonymous_variant	0			-	HGNC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1938C>T	13.37:g.33700362G>A		Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.F646	ENST00000336934.5	37	c.1938	CCDS9348.1	13																																																																																			-	NULL		0.512	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	protein_coding	OTTHUMT00000276118.2	G	NM_001243466	-		33700362	-1	no_errors	ENST00000336934	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33700362	G	A	33700362	2	1	112	1	0	0	0	0	0	0	0	1	15263	1281	45	2		2	STARD13	13	33700362	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	901852	33700362	81469516	741	8236											
STARD13	90627	genome.wustl.edu	37	chr13	33703736	33703736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccaagtacatgccccCgcgcttgttggcctcgtggc	11	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:33703736C>T	ENST00000336934.5	-	5	1194	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	STARD13_ENST00000255486.4_Missense_Mutation_p.G352R|STARD13_ENST00000399365.3_Missense_Mutation_p.G242R	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	360					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TACATGCCCCCGCGCTTGTTG	0.612																																																	0								ENSG00000133121						80	74	76					13																	33703736		2203	4300	6503	STARD13	SO:0001583	missense	0			-	HGNC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1078G>A	13.37:g.33703736C>T	ENSP00000338785:p.Gly360Arg	Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.G360R	ENST00000336934.5	37	c.1078	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766683	0.69878	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06142	3.34;3.34;3.35	5.82	5.82	0.92795	.	0.094242	0.64402	D	0.000001	T	0.09113	0.0225	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.49635	0.926;0.57;0.578;0.851	B;B;B;B	0.41619	0.361;0.306;0.161;0.26	T	0.32534	-0.9903	10	0.19147	T	0.46	.	15.266	0.73663	0.0:0.9311:0.0:0.0689	.	352;325;360;352	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	R	242;352;360;352	ENSP00000382300:G242R;ENSP00000255486:G352R;ENSP00000338785:G360R	ENSP00000255486:G352R	G	-	1	0	STARD13	32601736	0.945000	0.32115	0.969000	0.41365	0.991000	0.79684	2.017000	0.40981	2.748000	0.94277	0.655000	0.94253	GGG	-	NULL		0.612	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	protein_coding	OTTHUMT00000276118.2	C	NM_001243466	-		33703736	-1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	SNP	0.990	T	T	33703736	C	T	33703736	3	4	112	1	0	0	0	0	1	0	0	0	15263	652	23	1	2303	1	STARD13	13	33703736	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3374	33703736	81466142	742	8237											
STARD13	90627	genome.wustl.edu	37	chr13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactggcccggctggctgcGactgtcgctgcctccactgc	13	17	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:33704189G>A	ENST00000336934.5	-	5	741	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_ENST00000255486.4_Missense_Mutation_p.R201C|STARD13_ENST00000399365.3_Missense_Mutation_p.R91C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	209					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627																																																	0								ENSG00000133121						33	34	34					13																	33704189		2203	4300	6503	STARD13	SO:0001583	missense	0			-	HGNC	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.625C>T	13.37:g.33704189G>A	ENSP00000338785:p.Arg209Cys	Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R209C	ENST00000336934.5	37	c.625	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259473	0.39995	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.07114	3.22;3.23;3.23	5.7	2.61	0.31194	.	0.140329	0.64402	D	0.000017	T	0.23766	0.0575	M	0.70595	2.14	0.80722	D	1	D;B;B;B	0.76494	0.999;0.103;0.009;0.029	P;B;B;B	0.62184	0.899;0.033;0.006;0.013	T	0.02179	-1.1200	10	0.56958	D	0.05	.	14.2324	0.65903	0.0:0.0:0.4543:0.5457	.	201;174;209;201	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	C	91;201;209;201	ENSP00000382300:R91C;ENSP00000255486:R201C;ENSP00000338785:R209C	ENSP00000255486:R201C	R	-	1	0	STARD13	32602189	0.407000	0.25352	0.412000	0.26496	0.308000	0.27856	1.108000	0.31123	0.714000	0.32081	0.655000	0.94253	CGC	-	NULL		0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	protein_coding	OTTHUMT00000276118.2	G	NM_001243466	-		33704189	-1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	SNP	0.777	A	A	33704189	G	A	33704189	3	1	112	1	0	0	0	0	1	0	0	0	15263	1058	37	1	2756	1	STARD13	13	33704189	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	453	33704189	81465689	743	8238											
SOHLH2	54937	genome.wustl.edu	37	chr13	36748880	36748880	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggccataacggctggagaGattttctcccggatatattt	11	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:36748880G>A	ENST00000379881.3	-	7	856	c.768C>T	c.(766-768)atC>atT	p.I256I	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I333I|SOHLH2_ENST00000554962.1_Silent_p.I333I	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	256					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CGGCTGGAGAGATTTTCTCCC	0.373																																																	0								ENSG00000250709						61	66	65					13																	36748880		2203	4300	6503	CCDC169-SOHLH2	SO:0001819	synonymous_variant	0			-	HGNC	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.768C>T	13.37:g.36748880G>A		Somatic	0	153	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	72	36.28	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I333	ENST00000379881.3	37	c.999	CCDS9355.1	13																																																																																			-	superfamily_bHLH_dom,smart_bHLH_dom		0.373	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	protein_coding	OTTHUMT00000044477.2	G	NM_017826	-		36748880	-1	no_errors	ENST00000511166	ensembl	human	known	74_37	silent	SNP	0.901	A	A	36748880	G	A	36748880	2	1	112	1	0	0	0	0	0	0	0	1	14932	932	33	2		2	SOHLH2	13	36748880	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3044691	36748880	78420998	744	8239											
ALG11	440138	genome.wustl.edu	37	chr13	52598149	52598149	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattctattttaggtatcctGaagcagtttatgttgtttat	7	5	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:52598149G>A	ENST00000521508.1	+	3	288	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	95					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TAGGTATCCTGAAGCAGTTTA	0.388																																																	0								ENSG00000253710						69	69	69					13																	52598149		2203	4300	6503	ALG11	SO:0001583	missense	0			-	HGNC	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.283G>A	13.37:g.52598149G>A	ENSP00000430236:p.Glu95Lys	Somatic	0	64	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP							pfam_Glyco_trans_1	p.E95K	ENST00000521508.1	37	c.283	CCDS31977.1	13	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088598	0.36855	.	.	ENSG00000253710	ENST00000521508	T	0.80994	-1.44	6.03	3.4	0.38934	.	0.345140	0.27319	U	0.019914	T	0.61185	0.2327	N	0.13198	0.31	0.31612	N	0.651365	B	0.15930	0.015	B	0.16289	0.015	T	0.52909	-0.8512	10	0.07990	T	0.79	.	10.116	0.42591	0.2851:0.0:0.7149:0.0	.	95	Q2TAA5	ALG11_HUMAN	K	95	ENSP00000430236:E95K	ENSP00000430236:E95K	E	+	1	0	ALG11	51496150	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.065000	0.49994	0.451000	0.26802	0.555000	0.69702	GAA	-	NULL		0.388	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	protein_coding	OTTHUMT00000045050.1	G	NM_001004127	-		52598149	1	no_errors	ENST00000521508	ensembl	human	known	74_37	missense	SNP	0.999	A	A	52598149	G	A	52598149	3	1	112	1	0	0	0	0	1	0	0	0	513	1291	45	2	293	2	ALG11	13	52598149	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	15849269	52598149	62571729	745	8240											
UTP14C	9724	genome.wustl.edu	37	chr13	52603205	52603205	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagctgggccttgcagatCtgcttgagcccgttaaaact	10	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:52603205C>T	ENST00000521776.2	+	2	998	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	89					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCTTGCAGATCTGCTTGAGCC	0.443																																																	0								ENSG00000253797						149	154	152					13																	52603205		2203	4300	6503	UTP14C	SO:0001819	synonymous_variant	0			-	HGNC	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.265C>T	13.37:g.52603205C>T		Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	Q5FWG3|Q92555	Silent	SNP							pfam_SSU_processome_Utp14	p.L89	ENST00000521776.2	37	c.265	CCDS31978.1	13																																																																																			-	pfam_SSU_processome_Utp14		0.443	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	protein_coding	OTTHUMT00000045049.2	C	NM_021645	-		52603205	1	no_errors	ENST00000521776	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52603205	C	T	52603205	2	4	112	1	0	0	0	0	0	0	0	1	17103	912	32	2		2	UTP14C	13	52603205	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5056	52603205	62566673	746	8241											
OLFM4	10562	genome.wustl.edu	37	chr13	53624759	53624759	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattatgacacaaacacaggGaaagagggcaaactagacat	9	7	0	3	rs199789943		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:53624759G>A	ENST00000219022.2	+	5	1464	c.1386G>A	c.(1384-1386)ggG>ggA	p.G462G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	462	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAAACACAGGGAAAGAGGGCA	0.398																																																	0								ENSG00000102837						112	109	110					13																	53624759		2203	4300	6503	OLFM4	SO:0001819	synonymous_variant	0			-	HGNC	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1386G>A	13.37:g.53624759G>A		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	O95362|Q5VWG0|Q86T22	Silent	SNP							pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.G462	ENST00000219022.2	37	c.1386	CCDS9440.1	13																																																																																			-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like		0.398	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	protein_coding	OTTHUMT00000045112.2	G	NM_006418	rs199789943		53624759	1	no_errors	ENST00000219022	ensembl	human	known	74_37	silent	SNP	0.000	A	A	53624759	G	A	53624759	2	1	112	1	0	0	0	0	0	0	0	1	10857	1161	41	2		2	OLFM4	13	53624759	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1021554	53624759	61545119	747	8242											
SCEL	8796	genome.wustl.edu	37	chr13	78130762	78130762	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accactcagggaaccacacgGaagcagcaggattttcacga	10	12	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:78130762G>A	ENST00000349847.3	+	3	159	c.75G>A	c.(73-75)cgG>cgA	p.R25R	SCEL_ENST00000377246.3_Silent_p.R25R|SCEL_ENST00000535157.1_Silent_p.R25R	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	25					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)			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)		GAACCACACGGAAGCAGCAGG	0.438																																																	0								ENSG00000136155						181	186	185					13																	78130762		2203	4300	6503	SCEL	SO:0001819	synonymous_variant	0			-	HGNC	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.75G>A	13.37:g.78130762G>A		Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP							smart_Znf_LIM,pfscan_Znf_LIM	p.R25	ENST00000349847.3	37	c.75	CCDS9459.1	13																																																																																			-	NULL		0.438	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	protein_coding	OTTHUMT00000045339.2	G	NM_144777	-		78130762	1	no_errors	ENST00000349847	ensembl	human	known	74_37	silent	SNP	0.060	A	A	78130762	G	A	78130762	2	1	112	1	0	0	0	0	0	0	0	1	13896	1161	41	2		2	SCEL	13	78130762	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	24506003	78130762	37039116	748	8243											
GPC5	2262	genome.wustl.edu	37	chr13	92797179	92797179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtcagtggggactgtgatGatgaagatggttgcggggga	19	3	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:92797179G>A	ENST00000377067.3	+	7	1870	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	500					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGACTGTGATGATGAAGATGG	0.458																																																	0								ENSG00000179399						183	156	165					13																	92797179		2203	4300	6503	GPC5	SO:0001583	missense	0			-	HGNC	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1498G>A	13.37:g.92797179G>A	ENSP00000366267:p.Asp500Asn	Somatic	0	148	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	91	27.20	B2R726|O60436|Q9BX27	Missense_Mutation	SNP							pfam_Glypican	p.D500N	ENST00000377067.3	37	c.1498	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706128	0.89018	.	.	ENSG00000179399	ENST00000377067	T	0.56275	0.47	5.83	5.83	0.93111	.	0.240387	0.41500	D	0.000861	T	0.74207	0.3686	M	0.77103	2.36	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	T	0.76451	-0.2954	10	0.87932	D	0	0.2582	17.2722	0.87105	0.0:0.0:1.0:0.0	.	500	P78333	GPC5_HUMAN	N	500	ENSP00000366267:D500N	ENSP00000366267:D500N	D	+	1	0	GPC5	91595180	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	6.945000	0.75947	2.757000	0.94681	0.563000	0.77884	GAT	-	pfam_Glypican		0.458	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	protein_coding	OTTHUMT00000045454.1	G	NM_004466	-		92797179	1	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92797179	G	A	92797179	3	1	112	1	0	0	0	0	1	0	0	0	6603	1290	45	2	1524	2	GPC5	13	92797179	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	14666417	92797179	22372699	749	8244											
GPC6	10082	genome.wustl.edu	37	chr13	95055375	95055375	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcagtggatcccgaccgGagagaggtggactcttctgc	14	13	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:95055375G>A	ENST00000377047.4	+	9	2187	c.1572G>A	c.(1570-1572)cgG>cgA	p.R524R		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	524					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATCCCGACCGGAGAGAGGTGG	0.592																																																	0								ENSG00000183098						88	88	88					13																	95055375		2203	4300	6503	GPC6	SO:0001819	synonymous_variant	0			-	HGNC	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1572G>A	13.37:g.95055375G>A		Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP							pfam_Glypican	p.R524	ENST00000377047.4	37	c.1572	CCDS9469.1	13																																																																																			-	pfam_Glypican		0.592	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	protein_coding	OTTHUMT00000045460.4	G	NM_005708	-		95055375	1	no_errors	ENST00000377047	ensembl	human	known	74_37	silent	SNP	0.999	A	A	95055375	G	A	95055375	2	1	112	1	0	0	0	0	0	0	0	1	6604	1161	41	2		2	GPC6	13	95055375	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2258196	95055375	20114503	750	8245											
C13orf27	93081	genome.wustl.edu	37	chr13	103421774	103421774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccagtgacatcaaatgagGaagattcatatctcctgatg	9	8	3	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:103421774G>A	ENST00000376032.4	-	3	322	c.133C>T	c.(133-135)Cct>Tct	p.P45S	TEX30_ENST00000376022.1_Missense_Mutation_p.P4S|TEX30_ENST00000376021.4_Missense_Mutation_p.P4S|TEX30_ENST00000487260.1_5'UTR|TEX30_ENST00000376027.1_Missense_Mutation_p.P45S|TEX30_ENST00000376019.1_Missense_Mutation_p.P4S|TEX30_ENST00000376029.3_Missense_Mutation_p.P45S	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	45										lung(1)|urinary_tract(1)	2						ATCAAATGAGGAAGATTCATA	0.363																																																	0								ENSG00000151287						80	75	77					13																	103421774		2203	4300	6503	TEX30	SO:0001583	missense	0			-	HGNC	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.133C>T	13.37:g.103421774G>A	ENSP00000365200:p.Pro45Ser	Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	51	40.00	Q5JUR8|Q96KZ8	Missense_Mutation	SNP							pfam_Dienelactn_hydro	p.P45S	ENST00000376032.4	37	c.133	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522133	0.44866	.	.	ENSG00000151287	ENST00000376027;ENST00000376019;ENST00000376022;ENST00000376021;ENST00000376032;ENST00000376029	.	.	.	5.68	5.68	0.88126	.	0.114981	0.64402	D	0.000009	T	0.57740	0.2074	L	0.58428	1.81	0.48087	D	0.999585	B	0.27013	0.166	B	0.22152	0.038	T	0.53450	-0.8437	9	0.33141	T	0.24	-0.334	14.3444	0.66649	0.0709:0.0:0.9291:0.0	.	45	Q5JUR7	CM027_HUMAN	S	45;4;4;4;45;45	.	ENSP00000365187:P4S	P	-	1	0	C13orf27	102219775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.914000	0.48797	2.838000	0.97847	0.563000	0.77884	CCT	-	NULL		0.363	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	protein_coding	OTTHUMT00000045691.4	G	NM_138779	-		103421774	-1	no_errors	ENST00000376032	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103421774	G	A	103421774	3	1	112	1	0	0	0	0	1	0	0	0	1725	1174	41	2	566	2	C13orf27	13	103421774	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8366399	103421774	11748104	751	8246											
LIG4	3981	genome.wustl.edu	37	chr13	108861597	108861597	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttctccaggtcaggctttgGctggctatctgttccactca	10	12	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:108861597G>C	ENST00000356922.4	-	2	2292	c.2020C>G	c.(2020-2022)Cca>Gca	p.P674A	LIG4_ENST00000442234.1_Missense_Mutation_p.P674A|LIG4_ENST00000405925.1_Missense_Mutation_p.P674A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	674	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCAGGCTTTGGCTGGCTATCT	0.383								Non-homologous end-joining																																									0								ENSG00000174405						75	76	75					13																	108861597		2203	4300	6503	LIG4	SO:0001583	missense	0			-	HGNC	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2020C>G	13.37:g.108861597G>C	ENSP00000349393:p.Pro674Ala	Somatic	0	99	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q8IY66|Q8TEU5	Missense_Mutation	SNP							pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.P674A	ENST00000356922.4	37	c.2020	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	0.598	-0.830194	0.02734	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.79653	-1.29;-1.29;-1.29	5.69	1.29	0.21616	BRCT (4);	0.296464	0.38720	N	0.001597	T	0.72890	0.3517	L	0.56769	1.78	0.36492	D	0.868478	B	0.09022	0.002	B	0.08055	0.003	T	0.67413	-0.5677	10	0.40728	T	0.16	.	8.1984	0.31411	0.5636:0.0:0.4364:0.0	.	674	P49917	DNLI4_HUMAN	A	674	ENSP00000385955:P674A;ENSP00000402030:P674A;ENSP00000349393:P674A	ENSP00000349393:P674A	P	-	1	0	LIG4	107659598	0.998000	0.40836	0.098000	0.21074	0.032000	0.12392	0.944000	0.29043	0.299000	0.22661	-0.286000	0.09958	CCA	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	protein_coding	OTTHUMT00000045738.4	G	NM_002312	-		108861597	-1	no_errors	ENST00000356922	ensembl	human	known	74_37	missense	SNP	0.899	C	C	108861597	G	C	108861597	3	2	112	1	0	0	0	0	1	0	0	0	8785	1203	42	4	719	4	LIG4	13	108861597	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5439823	108861597	6308281	752	8247											
TMCO3	55002	genome.wustl.edu	37	chr13	114152660	114152660	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttacaaatgaataggaaGaaacagaatatatggaactt	7	4	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:114152660G>A	ENST00000434316.2	+	3	807	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	TMCO3_ENST00000375391.1_Missense_Mutation_p.E150K|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	150						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)			TGAATAGGAAGAAACAGAATA	0.343																																																	0								ENSG00000150403						65	69	68					13																	114152660		2203	4300	6503	TMCO3	SO:0001583	missense	0			-	HGNC	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.448G>A	13.37:g.114152660G>A	ENSP00000389399:p.Glu150Lys	Somatic	0	138	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP							pfam_Cation/H_exchanger	p.E150K	ENST00000434316.2	37	c.448	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631983	0.67015	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.35789	1.29	5.22	4.38	0.52667	.	0.098719	0.64402	D	0.000002	T	0.59321	0.2185	M	0.74258	2.255	0.53005	D	0.999968	D;D	0.89917	1.0;0.999	D;D	0.75484	0.982;0.986	T	0.64228	-0.6457	10	0.72032	D	0.01	-4.7227	13.7713	0.63026	0.0735:0.0:0.9265:0.0	.	150;150	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	K	150	ENSP00000389399:E150K	ENSP00000364540:E150K	E	+	1	0	TMCO3	113200661	1.000000	0.71417	0.071000	0.20095	0.324000	0.28378	9.409000	0.97331	1.230000	0.43646	0.555000	0.69702	GAA	-	NULL		0.343	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	protein_coding	OTTHUMT00000045931.3	G	NM_017905	-		114152660	1	no_errors	ENST00000434316	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114152660	G	A	114152660	3	1	112	1	0	0	0	0	1	0	0	0	16004	943	33	2	454	2	TMCO3	13	114152660	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5291063	114152660	1017218	753	8248											
OR11H6	122748	genome.wustl.edu	37	chr14	20692109	20692109	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acacacccatgtacatccttCtgggaaactttgcctttcta	5	13	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:20692109C>T	ENST00000315519.2	+	1	319	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000176219						114	103	107					14																	20692109		2203	4300	6503	OR11H6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.241C>T	14.37:g.20692109C>T		Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	Q6IF08	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L81	ENST00000315519.2	37	c.241	CCDS32033.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.463	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	protein_coding	OTTHUMT00000410676.1	C		-		20692109	1	no_errors	ENST00000315519	ensembl	human	known	74_37	silent	SNP	0.267	T	T	20692109	C	T	20692109	2	4	112	1	0	0	0	0	0	0	0	1	10931	912	32	2		2	OR11H6	14	20692109	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		20692109	86657431	754	8249											
NOVA1	4857	genome.wustl.edu	37	chr14	26949194	26949194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacactcacttgtttgatgcGatctggattaacggtggtct	10	8	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:26949194G>A	ENST00000344429.5	-	3	439	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NOVA1_ENST00000539517.2_Missense_Mutation_p.R146C|NOVA1_ENST00000465357.2_Missense_Mutation_p.R146C|NOVA1_ENST00000267422.7_Missense_Mutation_p.R24C|NOVA1_ENST00000547619.1_Missense_Mutation_p.R146C|NOVA1_ENST00000574031.1_Missense_Mutation_p.R146C	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	149					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGTTTGATGCGATCTGGATTA	0.388																																																	0								ENSG00000139910						209	178	189					14																	26949194		2203	4300	6503	NOVA1	SO:0001583	missense	0			-	HGNC	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.436C>T	14.37:g.26949194G>A	ENSP00000342387:p.Arg146Cys	Somatic	0	83	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R146C	ENST00000344429.5	37	c.436	CCDS9635.1	14	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002355	0.93227	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.63913	-0.07;1.4;1.3;1.37;-0.07;0.72;0.8;0.73;0.71	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	T	0.73644	0.3613	L	0.41492	1.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;1.0;0.973;0.988	T	0.71265	-0.4644	10	0.39692	T	0.17	-15.2117	19.6334	0.95719	0.0:0.0:1.0:0.0	.	146;149;146;146	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	C	146;146;24;105;24;24;109;146;146	ENSP00000447391:R146C;ENSP00000438875:R146C;ENSP00000267422:R24C;ENSP00000408914:R105C;ENSP00000299472:R24C;ENSP00000449113:R24C;ENSP00000449185:R109C;ENSP00000342387:R146C;ENSP00000448157:R146C	ENSP00000267422:R24C	R	-	1	0	NOVA1	26019034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.629000	0.89072	0.585000	0.79938	CGC	-	NULL		0.388	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	protein_coding	OTTHUMT00000276557.1	G	NM_006491	-		26949194	-1	no_errors	ENST00000539517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26949194	G	A	26949194	3	1	112	1	0	0	0	0	1	0	0	0	10556	1058	37	1	1130	1	NOVA1	14	26949194	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6257085	26949194	80400346	755	8250											
HECTD1	25831	genome.wustl.edu	37	chr14	31588985	31588985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtctaggatcaaaagcagGaaccaatgcagaaaactgtc	10	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:31588985G>A	ENST00000399332.1	-	29	5814	c.5326C>T	c.(5326-5328)Cct>Tct	p.P1776S	HECTD1_ENST00000553700.1_Missense_Mutation_p.P1776S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1776					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCAAAAGCAGGAACCAATGCA	0.403																																																	0								ENSG00000092148						150	145	147					14																	31588985		1915	4121	6036	HECTD1	SO:0001583	missense	0			-	HGNC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5326C>T	14.37:g.31588985G>A	ENSP00000382269:p.Pro1776Ser	Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	56	42.86	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP							pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.P1776S	ENST00000399332.1	37	c.5326	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581633	0.86748	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.12039	2.72;2.72;2.72	5.61	5.61	0.85477	.	0.000000	0.64402	U	0.000001	T	0.38692	0.1050	M	0.66439	2.03	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.04165	-1.0972	10	0.72032	D	0.01	-12.0527	19.9989	0.97403	0.0:0.0:1.0:0.0	.	1776;1776	D3DS86;Q9ULT8	.;HECD1_HUMAN	S	1776;1778;1776;1203	ENSP00000450697:P1776S;ENSP00000382269:P1776S;ENSP00000451860:P1203S	ENSP00000261312:P1778S	P	-	1	0	HECTD1	30658736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.750000	0.98875	2.805000	0.96524	0.460000	0.39030	CCT	-	NULL		0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	protein_coding	OTTHUMT00000409942.1	G		-		31588985	-1	no_errors	ENST00000399332	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31588985	G	A	31588985	3	1	112	1	0	0	0	0	1	0	0	0	7041	1174	41	2	2566	2	HECTD1	14	31588985	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4639791	31588985	75760555	756	8251											
ARHGAP5	394	genome.wustl.edu	37	chr14	32586408	32586408	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgggaaagtaattacttTgggatgcccctccaggatct	10	8	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:32586408T>A	ENST00000345122.3	+	3	4095	c.3780T>A	c.(3778-3780)ttT>ttA	p.F1260L	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1260L|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1259L|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1259L|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1260					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)			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)		GTAATTACTTTGGGATGCCCC	0.343																																					NSCLC(9;77 350 3443 29227 41353)												0								ENSG00000100852						89	93	91					14																	32586408		2203	4300	6503	ARHGAP5	SO:0001583	missense	0			-	HGNC	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.3780T>A	14.37:g.32586408T>A	ENSP00000371897:p.Phe1260Leu	Somatic	0	146	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	129	21.34	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.F1260L	ENST00000345122.3	37	c.3780	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543160	0.65198	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.61	4.47	0.54385	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.049886	0.85682	N	0.000000	T	0.45716	0.1356	L	0.27053	0.805	0.58432	D	0.999999	P;B	0.37158	0.585;0.449	B;B	0.43889	0.435;0.132	T	0.51601	-0.8685	10	0.87932	D	0	.	10.9733	0.47450	0.0:0.0729:0.0:0.9271	.	1259;1260	Q13017-2;Q13017	.;RHG05_HUMAN	L	1259;1260;1260;1259	ENSP00000452222:F1259L;ENSP00000441692:F1260L;ENSP00000371897:F1260L;ENSP00000393307:F1259L	ENSP00000216743:F114L	F	+	3	2	ARHGAP5	31656159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.680000	0.54641	2.133000	0.65898	0.460000	0.39030	TTT	-	superfamily_Rho_GTPase_activation_prot		0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	T	NM_001030055	-		32586408	1	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32586408	T	A	32586408	3	1	112	1	0	0	0	0	1	0	0	0	886	1809	63	5	3786	5	ARHGAP5	14	32586408	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	997423	32586408	74763132	757	8252											
FOXA1	3169	genome.wustl.edu	37	chr14	38061514	38061514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgcttgaacgtcttggCgtcgccgccgccgcccgcgc	14	18	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:38061514C>T	ENST00000250448.2	-	2	536	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.A126T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	159					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AACGTCTTGGCGTcgccgccg	0.701																																																	0								ENSG00000129514						51	48	49					14																	38061514		2203	4300	6503	FOXA1	SO:0001583	missense	0			-	HGNC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.475G>A	14.37:g.38061514C>T	ENSP00000250448:p.Ala159Thr	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.26	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP							pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A159T	ENST00000250448.2	37	c.475	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263220	0.39995	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.17691	2.26;2.26	4.12	3.21	0.36854	Fork-head N-terminal (1);	0.137299	0.47852	D	0.000202	T	0.04907	0.0132	N	0.00926	-1.1	0.28723	N	0.902901	B	0.25169	0.119	B	0.15484	0.013	T	0.16719	-1.0393	10	0.51188	T	0.08	.	6.8061	0.23779	0.0:0.72:0.1819:0.098	.	159	P55317	FOXA1_HUMAN	T	159;126	ENSP00000250448:A159T;ENSP00000440178:A126T	ENSP00000250448:A159T	A	-	1	0	FOXA1	37131265	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	0.747000	0.26290	0.915000	0.36847	-0.430000	0.05897	GCC	-	pfam_Fork-head_N		0.701	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	protein_coding	OTTHUMT00000276735.1	C		-		38061514	-1	no_errors	ENST00000250448	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38061514	C	T	38061514	3	4	112	1	0	0	0	0	1	0	0	0	5991	768	27	1	947	1	FOXA1	14	38061514	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5475106	38061514	69288026	758	8253											
SSTR1	6751	genome.wustl.edu	37	chr14	38679638	38679638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggacaacgccgcggaGgagccggttgactattacgc	15	10	0	1	rs370327349		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:38679638G>A	ENST00000267377.2	+	3	1661	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	348					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	ACGCCGCGGAGGAGCCGGTTG	0.577																																																	0								ENSG00000139874	G		1,4405	2.1+/-5.4	0,1,2202	87	85	86		1044	3.9	1	14		86	0,8600		0,0,4300	no	coding-synonymous	SSTR1	NM_001049.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		348/392	38679638	1,13005	2203	4300	6503	SSTR1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.1044G>A	14.37:g.38679638G>A		Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.E348	ENST00000267377.2	37	c.1044	CCDS9666.1	14																																																																																			-	prints_Somatstn_rcpt_1		0.577	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	protein_coding	OTTHUMT00000409930.2	G		-		38679638	1	no_errors	ENST00000267377	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38679638	G	A	38679638	2	1	112	1	0	0	0	0	0	0	0	1	15204	991	35	2		2	SSTR1	14	38679638	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	618124	38679638	68669902	759	8254											
NIN	51199	genome.wustl.edu	37	chr14	51206166	51206166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttttctgctggttatGgagccctgatggatgagtag	13	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:51206166G>A	ENST00000382041.3	-	26	5678	c.5488C>T	c.(5488-5490)Cat>Tat	p.H1830Y	NIN_ENST00000453196.1_Missense_Mutation_p.H1830Y|NIN_ENST00000389868.3_Missense_Mutation_p.H1117Y|NIN_ENST00000382043.4_Missense_Mutation_p.H1117Y|NIN_ENST00000530997.2_Missense_Mutation_p.H1830Y|NIN_ENST00000324330.9_Missense_Mutation_p.H1830Y|NIN_ENST00000245441.5_Missense_Mutation_p.H1830Y	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1830					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)					TGCTGGTTATGGAGCCCTGAT	0.473			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								ENSG00000100503						168	154	159					14																	51206166		2203	4300	6503	NIN	SO:0001583	missense	0			-	HGNC	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.5488C>T	14.37:g.51206166G>A	ENSP00000371472:p.His1830Tyr	Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	42	59.22	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP							superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.H1830Y	ENST00000382041.3	37	c.5488	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.829|4.829	0.154207|0.154207	0.09236|0.09236	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.62498|.	0.02;0.02;0.02;0.02;0.02;0.02|.	5.85|5.85	4.96|4.96	0.65561|0.65561	.|.	0.545294|.	0.18824|.	N|.	0.130174|.	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.44542|0.44542	1.39|1.39	0.19300|0.19300	N|N	0.999972|0.999972	B;B;P;P;P|.	0.47962|.	0.039;0.01;0.728;0.903;0.467|.	B;B;B;B;B|.	0.43052|.	0.028;0.02;0.201;0.406;0.201|.	T|T	0.32561|0.32561	-0.9902|-0.9902	10|5	0.66056|.	D|.	0.02|.	0.0291|0.0291	13.1936|13.1936	0.59726|0.59726	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	1836;1830;1830;1117;1830|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	Y|L	1830;1813;1117;1117;1836;1830;1830;1830|1320	ENSP00000245441:H1830Y;ENSP00000374518:H1117Y;ENSP00000371474:H1117Y;ENSP00000371472:H1830Y;ENSP00000324210:H1830Y;ENSP00000412391:H1830Y|.	ENSP00000245441:H1830Y|.	H|P	-|-	1|2	0|0	NIN|NIN	50275916|50275916	1.000000|1.000000	0.71417|0.71417	0.179000|0.179000	0.23059|0.23059	0.335000|0.335000	0.28730|0.28730	4.848000|4.848000	0.62874|0.62874	1.625000|1.625000	0.50366|0.50366	0.655000|0.655000	0.94253|0.94253	CAT|CCA	-	NULL		0.473	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	protein_coding	OTTHUMT00000395207.2	G	NM_182946	-		51206166	-1	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	SNP	0.528	A	A	51206166	G	A	51206166	3	1	112	1	0	0	0	0	1	0	0	0	10419	1348	47	2	1085	2	NIN	14	51206166	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	12526528	51206166	56143374	760	8255											
KTN1	3895	genome.wustl.edu	37	chr14	56137519	56137519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaacttcagggtcagagGaggttaaggttagttcagca	14	6	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:56137519G>A	ENST00000395314.3	+	35	3408	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K	KTN1_ENST00000555573.1_Missense_Mutation_p.E119K|KTN1_ENST00000395309.3_Missense_Mutation_p.E1114K|KTN1_ENST00000395311.1_Missense_Mutation_p.E1091K|KTN1_ENST00000395308.1_Missense_Mutation_p.E1091K|KTN1_ENST00000438792.2_Missense_Mutation_p.E1085K|KTN1_ENST00000416613.1_Missense_Mutation_p.E1114K|KTN1_ENST00000554507.1_Missense_Mutation_p.E380K|KTN1_ENST00000413890.2_Missense_Mutation_p.E1091K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1114					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGGTCAGAGGAGGTTAAGGT	0.328			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0								ENSG00000126777						93	92	92					14																	56137519		2203	4300	6503	KTN1	SO:0001583	missense	0			-	HGNC		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3340G>A	14.37:g.56137519G>A	ENSP00000378725:p.Glu1114Lys	Somatic	0	163	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	74	47.14	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP							NULL	p.E1114K	ENST00000395314.3	37	c.3340	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190020	0.58017	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T;T;T;T	0.76316	1.28;1.28;1.28;1.28;1.28;1.28;1.28;-1.01;1.28;1.28	5.61	4.7	0.59300	.	0.236430	0.29239	N	0.012728	T	0.51227	0.1662	N	0.02011	-0.69	0.23266	N	0.998011	B;B;B;P;B;B	0.40875	0.016;0.007;0.016;0.731;0.009;0.214	B;B;B;B;B;B	0.39531	0.041;0.01;0.041;0.302;0.037;0.221	T	0.46596	-0.9180	10	0.25751	T	0.34	-10.2242	10.5209	0.44918	0.1447:0.0:0.8553:0.0	.	119;1114;380;1085;1091;1114	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	K	1091;1114;1085;1114;1091;1091;1114;380;75;119	ENSP00000394992:E1091K;ENSP00000378720:E1114K;ENSP00000391964:E1085K;ENSP00000378725:E1114K;ENSP00000378719:E1091K;ENSP00000378722:E1091K;ENSP00000388807:E1114K;ENSP00000452073:E380K;ENSP00000452445:E75K;ENSP00000451698:E119K	ENSP00000378719:E1091K	E	+	1	0	KTN1	55207272	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.144000	0.50616	2.791000	0.96007	0.650000	0.86243	GAG	-	NULL		0.328	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	protein_coding	OTTHUMT00000276912.2	G		-		56137519	1	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	SNP	0.997	A	A	56137519	G	A	56137519	3	1	112	1	0	0	0	0	1	0	0	0	8587	1175	41	2	3474	2	KTN1	14	56137519	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4931353	56137519	51212021	761	8256											
DACT1	51339	genome.wustl.edu	37	chr14	59112874	59112874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccctgaaaaagatgtcacaGaaaaacagcctgcagggcgt	10	11	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:59112874G>A	ENST00000335867.4	+	4	1557	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	DACT1_ENST00000541264.2_Silent_p.Q230Q|DACT1_ENST00000556859.1_Silent_p.Q230Q|DACT1_ENST00000395153.3_Silent_p.Q474Q			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	511					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGATGTCACAGAAAAACAGCC	0.602																																																	0								ENSG00000165617						59	74	69					14																	59112874		2200	4300	6500	DACT1	SO:0001819	synonymous_variant	0			-	HGNC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1533G>A	14.37:g.59112874G>A		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	30	36.17	A8MYJ2|Q86TY0	Silent	SNP							NULL	p.Q511	ENST00000335867.4	37	c.1533	CCDS9736.1	14																																																																																			-	NULL		0.602	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	G	NM_016651	-		59112874	1	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	SNP	0.956	A	A	59112874	G	A	59112874	2	1	112	1	0	0	0	0	0	0	0	1	4224	933	33	2		2	DACT1	14	59112874	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2975355	59112874	48236666	762	8257											
KCNH5	27133	genome.wustl.edu	37	chr14	63246479	63246479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaagtaagagtgagattCcttgagaaggagtttgcaaa	12	4	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:63246479C>T	ENST00000322893.7	-	10	2254	c.1986G>A	c.(1984-1986)agG>agA	p.R662R	KCNH5_ENST00000394968.1_Silent_p.R604R|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	662					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)			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)		GAGTGAGATTCCTTGAGAAGG	0.433																																																	0								ENSG00000140015						119	120	120					14																	63246479		2203	4300	6503	KCNH5	SO:0001819	synonymous_variant	0			-	HGNC	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.1986G>A	14.37:g.63246479C>T		Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	57	28.75	C9JP98	Silent	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.R662	ENST00000322893.7	37	c.1986	CCDS9756.1	14																																																																																			-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	C	NM_139318	-		63246479	-1	no_errors	ENST00000322893	ensembl	human	known	74_37	silent	SNP	1.000	T	T	63246479	C	T	63246479	2	4	112	1	0	0	0	0	0	0	0	1	8037	854	30	2		2	KCNH5	14	63246479	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4133605	63246479	44103061	763	8258											
SGPP1	81537	genome.wustl.edu	37	chr14	64153115	64153115	+	Missense_Mutation	SNP	G	G	A													aaggtaatgtatctagagaaGgatctaatactagacccatg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:64153115G>A	ENST00000247225.6	-	3	1128	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	345					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ATCTAGAGAAGGATCTAATAC	0.443																																																	0								ENSG00000126821						88	78	81					14																	64153115		2203	4300	6503	SGPP1	SO:0001583	missense	0			-	HGNC	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1034C>T	14.37:g.64153115G>A	ENSP00000247225:p.Pro345Leu	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	69	12.66	B2RAH0|Q9H189	Missense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P345L	ENST00000247225.6	37	c.1034	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676237	0.47886	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.058817	0.64402	D	0.000001	T	0.70404	0.3220	M	0.77103	2.36	0.80722	D	1	D	0.53885	0.963	P	0.47118	0.538	T	0.66716	-0.5853	9	0.20519	T	0.43	-18.3662	20.6593	0.99626	0.0:0.0:1.0:0.0	.	345	Q9BX95	SGPP1_HUMAN	L	345	.	ENSP00000247225:P345L	P	-	2	0	SGPP1	63222868	1.000000	0.71417	0.874000	0.34290	0.104000	0.19210	5.118000	0.64673	2.885000	0.99019	0.655000	0.94253	CCT	-	NULL		0.443	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	protein_coding	OTTHUMT00000072626.3	G	NM_030791	-		64153115	-1	no_errors	ENST00000247225	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64153115	G	A	64153115	3	1	112	1	0	0	0	0	1	0	0	0	14227	1000	35	2	295	2	SGPP1	14	64153115	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	906636	64153115	43196425	764	8259	131	2									
SGPP1	81537	genome.wustl.edu	37	chr14	64153116	64153116	+	Missense_Mutation	SNP	G	G	A													aggtaatgtatctagagaagGatctaatactagacccatgt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:64153116G>A	ENST00000247225.6	-	3	1127	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	345					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TCTAGAGAAGGATCTAATACT	0.448																																																	0								ENSG00000126821						88	78	82					14																	64153116		2203	4300	6503	SGPP1	SO:0001583	missense	0			-	HGNC	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1033C>T	14.37:g.64153116G>A	ENSP00000247225:p.Pro345Ser	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	70	13.58	B2RAH0|Q9H189	Missense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P345S	ENST00000247225.6	37	c.1033	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812009	0.50527	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.058817	0.64402	D	0.000001	D	0.82554	0.5062	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77555	-0.2544	9	0.26408	T	0.33	-18.3662	20.6593	0.99626	0.0:0.0:1.0:0.0	.	345	Q9BX95	SGPP1_HUMAN	S	345	.	ENSP00000247225:P345S	P	-	1	0	SGPP1	63222869	1.000000	0.71417	0.858000	0.33744	0.096000	0.18686	6.097000	0.71452	2.885000	0.99019	0.655000	0.94253	CCT	-	NULL		0.448	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	protein_coding	OTTHUMT00000072626.3	G	NM_030791	-		64153116	-1	no_errors	ENST00000247225	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64153116	G	A	64153116	3	1	112	1	0	0	0	0	1	0	0	0	14227	1174	41	2	296	2	SGPP1	14	64153116	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	64153116	43196424	765	8260	131	2									
ZBTB1	22890	genome.wustl.edu	37	chr14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacaattaggtaattttcCtgagccactatttgatgtat	6	6	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:64988779C>T	ENST00000554015.1	+	4	988	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413																																																	0								ENSG00000126804						69	73	71					14																	64988779		2203	4300	6503	ZBTB1	SO:0001583	missense	0			-	HGNC	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.557C>T	14.37:g.64988779C>T	ENSP00000451000:p.Pro186Leu	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	A8K6S8|Q86SW8	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P186L	ENST00000554015.1	37	c.557	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	ZBTB1	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT	-	NULL		0.413	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	protein_coding	OTTHUMT00000411912.1	C		-		64988779	1	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	SNP	0.950	T	T	64988779	C	T	64988779	3	4	112	1	0	0	0	0	1	0	0	0	17529	681	24	2	559	2	ZBTB1	14	64988779	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	835663	64988779	42360761	766	8261											
HSPA2	3306	genome.wustl.edu	37	chr14	65008993	65008993	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcctcgcggggtccccCaaatcgaggttaccttcgac	11	16	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:65008993C>T	ENST00000394709.1	+	2	1502	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	HSPA2_ENST00000247207.6_Nonsense_Mutation_p.Q476*|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	476					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGGGTCCCCCAAATCGAGGT	0.567																																					Pancreas(136;1211 1835 24894 31984 38227)												0								ENSG00000126803						53	55	54					14																	65008993		2203	4300	6503	HSPA2	SO:0001587	stop_gained	0			-	HGNC	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1426C>T	14.37:g.65008993C>T	ENSP00000378199:p.Gln476*	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	42	46.15	Q15508|Q53XM3|Q9UE78	Nonsense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.Q476*	ENST00000394709.1	37	c.1426	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.848801	0.97885	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	.	.	.	5.13	5.13	0.70059	.	0.000000	0.52532	U	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.3633	18.6485	0.91421	0.0:1.0:0.0:0.0	.	.	.	.	X	476;476;250	.	ENSP00000247207:Q476X	Q	+	1	0	HSPA2	64078746	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.815000	0.86186	2.399000	0.81585	0.558000	0.71614	CAA	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.567	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	protein_coding	OTTHUMT00000280651.1	C		-		65008993	1	no_errors	ENST00000247207	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	65008993	C	T	65008993	4	4	112	1	0	0	0	0	0	1	0	0	7413	595	21	2	1428	2	HSPA2	14	65008993	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	20214	65008993	42340547	767	8262											
SPTB	6710	genome.wustl.edu	37	chr14	65240025	65240025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaggtcgtcggtctcCcgcttgagctggaacaggtg	14	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:65240025C>T	ENST00000389721.5	-	24	5123	c.5091G>A	c.(5089-5091)cgG>cgA	p.R1697R	SPTB_ENST00000542895.1_Silent_p.R1697R|SPTB_ENST00000389720.3_Silent_p.R1697R|SPTB_ENST00000389722.3_Silent_p.R1697R|SPTB_ENST00000556626.1_Silent_p.R1697R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1697					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)		CGTCGGTCTCCCGCTTGAGCT	0.572																																																	0								ENSG00000070182						120	101	108					14																	65240025		2203	4300	6503	SPTB	SO:0001819	synonymous_variant	0			-	HGNC		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.5091G>A	14.37:g.65240025C>T		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	Q15510|Q15519	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1697	ENST00000389721.5	37	c.5091	CCDS32100.1	14																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	C		-		65240025	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	SNP	0.962	T	T	65240025	C	T	65240025	2	4	112	1	0	0	0	0	0	0	0	1	15125	610	22	2		2	SPTB	14	65240025	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	231032	65240025	42109515	768	8263											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68249851	68249851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcacctccctgcggccacGaagttccttccatgacaagc	9	16	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:68249851G>A	ENST00000347230.4	-	21	4156	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R1340C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1340					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCGGCCACGAAGTTCCTTC	0.592																																																	0								ENSG00000072121						62	72	69					14																	68249851		2203	4300	6503	ZFYVE26	SO:0001583	missense	0			-	HGNC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4018C>T	14.37:g.68249851G>A	ENSP00000251119:p.Arg1340Cys	Somatic	0	23	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R1340C	ENST00000347230.4	37	c.4018	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963637	0.18583	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29655	1.71;1.56	5.64	2.4	0.29515	.	0.328017	0.29424	N	0.012184	T	0.20820	0.0501	L	0.38838	1.175	0.33853	D	0.632869	B;B	0.18013	0.025;0.014	B;B	0.09377	0.004;0.003	T	0.14476	-1.0471	10	0.41790	T	0.15	-5.4117	7.1926	0.25834	0.274:0.0:0.6072:0.1189	.	1340;1340	G3V2D8;Q68DK2	.;ZFY26_HUMAN	C	1340;1319;1340	ENSP00000251119:R1340C;ENSP00000450603:R1340C	ENSP00000251119:R1340C	R	-	1	0	ZFYVE26	67319604	1.000000	0.71417	0.997000	0.53966	0.564000	0.35744	3.861000	0.56002	0.745000	0.32763	-0.140000	0.14226	CGT	-	NULL		0.592	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	protein_coding	OTTHUMT00000412736.2	G	NM_015346	-		68249851	-1	no_errors	ENST00000347230	ensembl	human	known	74_37	missense	SNP	0.389	A	A	68249851	G	A	68249851	3	1	112	1	0	0	0	0	1	0	0	0	17675	1058	37	1	3689	1	ZFYVE26	14	68249851	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3009826	68249851	39099689	769	8264											
PCNX	22990	genome.wustl.edu	37	chr14	71518660	71518660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctactccactgaaccCctttctgggaagtgcaatat	6	13	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:71518660C>T	ENST00000304743.2	+	24	4954	c.4508C>T	c.(4507-4509)cCc>cTc	p.P1503L	PCNX_ENST00000238570.5_Missense_Mutation_p.P1503L|PCNX_ENST00000439984.3_Missense_Mutation_p.P1392L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1503						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCACTGAACCCCTTTCTGGGA	0.413																																																	0								ENSG00000100731						174	168	170					14																	71518660		2203	4300	6503	PCNX	SO:0001583	missense	0			-	HGNC	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4508C>T	14.37:g.71518660C>T	ENSP00000304192:p.Pro1503Leu	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP							pfam_Pecanex	p.P1503L	ENST00000304743.2	37	c.4508	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182749|4.182749	0.78677|0.78677	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|T	0.60920|0.66995	1.84;0.15;1.64|-0.24	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.85999|0.85999	0.5828|0.5828	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.997|.	D|D	0.87429|0.87429	0.2387|0.2387	10|7	0.56958|.	D|.	0.05|.	.|.	20.1346|20.1346	0.98019|0.98019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1503;1392;1503|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|S	1503;1503;1392|562	ENSP00000304192:P1503L;ENSP00000238570:P1503L;ENSP00000396617:P1392L|ENSP00000451016:P562S	ENSP00000238570:P1503L|.	P|P	+|+	2|1	0|0	PCNX|PCNX	70588413|70588413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.442000|7.442000	0.80503|0.80503	2.763000|2.763000	0.94921|0.94921	0.557000|0.557000	0.71058|0.71058	CCC|CCT	-	NULL		0.413	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	protein_coding	OTTHUMT00000412479.1	C	NM_014982	-		71518660	1	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71518660	C	T	71518660	3	4	112	1	0	0	0	0	1	0	0	0	11593	623	22	2	4602	2	PCNX	14	71518660	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3268809	71518660	35830880	770	8265											
PAPLN	89932	genome.wustl.edu	37	chr14	73727967	73727967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccactgcagccggtcCtcttggggaaggctgtgtgg	17	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:73727967C>T	ENST00000554301.1	+	17	2373	c.2210C>T	c.(2209-2211)cCt>cTt	p.P737L	PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000427855.1_Missense_Mutation_p.P737L|PAPLN_ENST00000340738.5_Missense_Mutation_p.P710L|PAPLN_ENST00000555445.1_Missense_Mutation_p.P737L|PAPLN_ENST00000381166.3_Missense_Mutation_p.P737L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	737						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P710L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGCCGGTCCTCTTGGGGAA	0.642																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000100767						44	42	43					14																	73727967		2203	4300	6503	PAPLN	SO:0001583	missense	0			-	HGNC	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2210C>T	14.37:g.73727967C>T	ENSP00000451803:p.Pro737Leu	Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	8	60.00	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.P737L	ENST00000554301.1	37	c.2210		14	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198312	0.58126	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.66099	-0.19;-0.18;0.12;-0.18;-0.12	4.75	4.75	0.60458	.	.	.	.	.	T	0.80864	0.4705	M	0.83774	2.66	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	T	0.82335	-0.0508	9	0.46703	T	0.11	.	17.9417	0.89027	0.0:1.0:0.0:0.0	.	737;737;710	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	L	710;737;737;737;737	ENSP00000345395:P710L;ENSP00000403403:P737L;ENSP00000370558:P737L;ENSP00000451803:P737L;ENSP00000451729:P737L	ENSP00000216658:P737L	P	+	2	0	PAPLN	72797720	0.998000	0.40836	0.092000	0.20876	0.118000	0.20060	6.695000	0.74593	2.450000	0.82876	0.462000	0.41574	CCT	-	NULL		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	protein_coding	OTTHUMT00000413182.1	C	NM_173462	-		73727967	1	no_errors	ENST00000427855	ensembl	human	known	74_37	missense	SNP	0.995	T	T	73727967	C	T	73727967	3	4	112	1	0	0	0	0	1	0	0	0	11430	681	24	2	2191	2	PAPLN	14	73727967	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2209307	73727967	33621573	771	8266											
VSX2	338917	genome.wustl.edu	37	chr14	74707946	74707946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgctttaaaccagaccaaGaaacggaagaagcggcgaca	10	10	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74707946G>A	ENST00000261980.2	+	2	522	c.432G>A	c.(430-432)aaG>aaA	p.K144K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	144					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		ACCAGACCAAGAAACGGAAGA	0.587																																																	0								ENSG00000119614						76	81	79					14																	74707946		2203	4300	6503	VSX2	SO:0001819	synonymous_variant	0			-	HGNC	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.432G>A	14.37:g.74707946G>A		Somatic	1	108	0.92		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	39	53.01	A1A4X6	Silent	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.K144	ENST00000261980.2	37	c.432	CCDS9827.1	14																																																																																			-	superfamily_Homeodomain-like		0.587	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	protein_coding	OTTHUMT00000412323.1	G	NM_182894	-		74707946	1	no_errors	ENST00000261980	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74707946	G	A	74707946	2	1	112	1	0	0	0	0	0	0	0	1	17239	933	33	2		2	VSX2	14	74707946	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	979979	74707946	32641594	772	8267											
ABCD4	5826	genome.wustl.edu	37	chr14	74756194	74756194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccagctcacctgagtcgGggtagacctccttcagggga	14	12	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74756194G>A	ENST00000356924.4	-	14	1591	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_5'Flank|ABCD4_ENST00000298816.7_Missense_Mutation_p.P379L	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	483	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ACCTGAGTCGGGGTAGACCTC	0.552																																																	0								ENSG00000119688						115	97	103					14																	74756194		2203	4300	6503	ABCD4	SO:0001583	missense	0			-	HGNC	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1448C>T	14.37:g.74756194G>A	ENSP00000349396:p.Pro483Leu	Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP							pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P483L	ENST00000356924.4	37	c.1448	CCDS9828.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.010142|4.010142	0.75046|0.75046	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816|ENST00000556517	D;D|D	0.99830|0.99836	-3.59;-7.01|-7.05	5.25|5.25	5.25|5.25	0.73442|0.73442	ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99486|0.99486	0.9817|0.9817	L|L	0.33792|0.33792	1.035|1.035	0.80722|0.80722	D|D	1|1	B;D;P|.	0.61697|.	0.348;0.99;0.917|.	B;P;P|.	0.58130|.	0.283;0.833;0.649|.	D|D	0.98156|0.98156	1.0444|1.0444	10|8	0.11485|0.87932	T|D	0.65|0	.|.	19.0472|19.0472	0.93027|0.93027	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	379;483;483|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	L|S	483;379|95	ENSP00000349396:P483L;ENSP00000298816:P379L|ENSP00000450960:P95S	ENSP00000298816:P379L|ENSP00000432557:P167S	P|P	-|-	2|1	0|0	ABCD4|ABCD4	73825947|73825947	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.988000|0.988000	0.76386|0.76386	8.999000|8.999000	0.93557|0.93557	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CCC|CCG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	protein_coding	OTTHUMT00000314382.1	G	NM_005050	-		74756194	-1	no_errors	ENST00000356924	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74756194	G	A	74756194	3	1	112	1	0	0	0	0	1	0	0	0	63	1232	43	2	396	2	ABCD4	14	74756194	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	48248	74756194	32593346	773	8268											
C14orf115	55237	genome.wustl.edu	37	chr14	74824866	74824866	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccctctctgctgctggGactccccagctagcatctgt	9	17	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74824866G>A	ENST00000256362.4	+	2	1621	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	460					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCTGCTGGGACTCCCCAGC	0.617																																																	0								ENSG00000133980						35	39	38					14																	74824866		2203	4300	6503	VRTN	SO:0001819	synonymous_variant	0			-	HGNC	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1380G>A	14.37:g.74824866G>A		Somatic	0	147	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	64	42.86	Q9NVC7	Silent	SNP							pfam_Transposase_8	p.G460	ENST00000256362.4	37	c.1380	CCDS9830.1	14																																																																																			-	NULL		0.617	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	protein_coding	OTTHUMT00000412339.1	G	NM_018228	-		74824866	1	no_errors	ENST00000256362	ensembl	human	known	74_37	silent	SNP	0.004	A	A	74824866	G	A	74824866	2	1	112	1	0	0	0	0	0	0	0	1	1742	1161	41	2		2	C14orf115	14	74824866	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	68672	74824866	32524674	774	8269											
LTBP2	4053	genome.wustl.edu	37	chr14	74971722	74971722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggtcacaggcatctcCccagctagcgccctgggtgc	13	15	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74971722C>T	ENST00000261978.4	-	29	4719	c.4333G>A	c.(4333-4335)Gga>Aga	p.G1445R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1401R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1445	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGCATCTCCCCAGCTAGCG	0.622																																																	0								ENSG00000119681						66	66	66					14																	74971722		2203	4300	6503	LTBP2	SO:0001583	missense	0			-	HGNC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4333G>A	14.37:g.74971722C>T	ENSP00000261978:p.Gly1445Arg	Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q99907|Q9NS51	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G1445R	ENST00000261978.4	37	c.4333	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.097454	0.94197	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.97791	-4.54;-4.54	4.83	4.83	0.62350	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.38058	N	0.001825	D	0.98817	0.9601	M	0.87328	2.875	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99267	1.0892	10	0.51188	T	0.08	.	18.1711	0.89745	0.0:1.0:0.0:0.0	.	1445	Q14767	LTBP2_HUMAN	R	1445;1401	ENSP00000261978:G1445R;ENSP00000451477:G1401R	ENSP00000261978:G1445R	G	-	1	0	LTBP2	74041475	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.613000	0.82986	2.511000	0.84671	0.555000	0.69702	GGA	-	pfam_TB_dom,superfamily_TB_dom		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	protein_coding	OTTHUMT00000413595.1	C	NM_000428	-		74971722	-1	no_errors	ENST00000261978	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74971722	C	T	74971722	3	4	112	1	0	0	0	0	1	0	0	0	9076	632	22	2	1164	2	LTBP2	14	74971722	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	146856	74971722	32377818	775	8270											
FLVCR2	55640	genome.wustl.edu	37	chr14	76107368	76107368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtacccagaatcagaaGgcatctcctccggcctcctc	7	17	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:76107368G>T	ENST00000238667.4	+	7	1662	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.G151C|FLVCR2_ENST00000539311.1_Missense_Mutation_p.G231C	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	436					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGAATCAGAAGGCATCTCCTC	0.502																																																	0								ENSG00000119686						137	121	127					14																	76107368		2203	4300	6503	FLVCR2	SO:0001583	missense	0			-	HGNC	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1306G>T	14.37:g.76107368G>T	ENSP00000238667:p.Gly436Cys	Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	45	40.00	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.G436C	ENST00000238667.4	37	c.1306	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932777	0.73442	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000554580;ENST00000555027	T;T;T;T;T	0.71579	-0.58;-0.58;-0.3;-0.3;-0.3	5.26	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156139	0.64402	D	0.000016	T	0.82010	0.4944	M	0.89715	3.055	0.80722	D	1	P;P	0.52577	0.954;0.861	P;P	0.53006	0.715;0.667	D	0.85470	0.1172	10	0.72032	D	0.01	-11.8325	12.7598	0.57356	0.0811:0.0:0.9189:0.0	.	231;436	B7Z485;Q9UPI3	.;FLVC2_HUMAN	C	436;231;137;136;151	ENSP00000238667:G436C;ENSP00000443439:G231C;ENSP00000452584:G137C;ENSP00000451781:G136C;ENSP00000452453:G151C	ENSP00000238667:G436C	G	+	1	0	AC007182.1	75177121	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.405000	0.97313	1.219000	0.43474	-0.136000	0.14681	GGC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.502	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	protein_coding	OTTHUMT00000413672.1	G	NM_017791	-		76107368	1	no_errors	ENST00000238667	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76107368	G	T	76107368	3	4	112	1	0	0	0	0	1	0	0	0	5948	1000	35	3	1332	3	FLVCR2	14	76107368	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1135646	76107368	31242172	776	8271											
C14orf118	55668	genome.wustl.edu	37	chr14	76620781	76620781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataagcttggtgaactgtgGgaggagatggcgctgagccc	16	7	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:76620781G>A	ENST00000261530.7	+	2	141	c.75G>A	c.(73-75)tgG>tgA	p.W25*	GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.W25*|GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.W25*|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.W25*	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	25																	GTGAACTGTGGGAGGAGATGG	0.567																																																	0								ENSG00000089916						46	47	46					14																	76620781		2203	4300	6503	GPATCH2L	SO:0001587	stop_gained	0			-	HGNC	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.75G>A	14.37:g.76620781G>A	ENSP00000261530:p.Trp25*	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP							NULL	p.W25*	ENST00000261530.7	37	c.75	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.083861	0.94050	.	.	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9892	12.5773	0.56371	0.0758:0.0:0.9242:0.0	.	.	.	.	X	25	.	ENSP00000261530:W25X	W	+	3	0	C14orf118	75690534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.380000	0.73158	2.553000	0.86117	0.561000	0.74099	TGG	-	NULL		0.567	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	protein_coding	OTTHUMT00000413698.2	G	NM_017926	-		76620781	1	no_errors	ENST00000261530	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	76620781	G	A	76620781	4	1	112	1	0	0	0	0	0	1	0	0	1743	1241	43	2	77	2	C14orf118	14	76620781	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	513413	76620781	30728759	777	8272											
VASH1	22846	genome.wustl.edu	37	chr14	77242323	77242323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacttccgccacatcgtgCtgggggtgaacttcgcgggc	13	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:77242323C>T	ENST00000167106.4	+	5	1252	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000554743.1_5'Flank	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	207					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)		CCACATCGTGCTGGGGGTGAA	0.637																																																	0								ENSG00000071246						29	25	27					14																	77242323		2203	4300	6503	VASH1	SO:0001819	synonymous_variant	0			-	HGNC	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.619C>T	14.37:g.77242323C>T		Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	55	26.67	Q96H02|Q9UBF4|Q9Y629	Silent	SNP							NULL	p.L207	ENST00000167106.4	37	c.619	CCDS9851.1	14																																																																																			-	NULL		0.637	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	protein_coding	OTTHUMT00000413706.1	C	NM_014909	-		77242323	1	no_errors	ENST00000167106	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77242323	C	T	77242323	2	4	112	1	0	0	0	0	0	0	0	1	17132	796	28	2		2	VASH1	14	77242323	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	621542	77242323	30107217	778	8273											
C14orf166B	145497	genome.wustl.edu	37	chr14	77292895	77292895	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcttgctgggagggaagGataactgcaggctcccctgg	17	9	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:77292895G>A	ENST00000393774.3	+	1	181	c.57G>A	c.(55-57)agG>agA	p.R19R	C14orf166B_ENST00000450042.2_5'UTR|C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGGAGGGAAGGATAACTGCAG	0.537																																					Ovarian(165;1056 1958 32571 36789 48728)												0								ENSG00000100565						46	49	48					14																	77292895		1881	4126	6007	C14orf166B	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000393774.3:c.57G>A	14.37:g.77292895G>A		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R19	ENST00000393774.3	37	c.57	CCDS9853.2	14																																																																																			-	NULL		0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	protein_coding	OTTHUMT00000316592.1	G		-		77292895	1	no_errors	ENST00000393774	ensembl	human	known	74_37	silent	SNP	0.000	A	A	77292895	G	A	77292895	2	1	112	1	0	0	0	0	0	0	0	1	1759	1165	41	2		2	C14orf166B	14	77292895	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	50572	77292895	30056645	779	8274											
C14orf166B	145497	genome.wustl.edu	37	chr14	77323731	77323731	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccctctatagcttttcctGaatcccataaatatggatgg	6	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:77323731G>A	ENST00000393774.3	+	10	1141	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L		NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGCTTTTCCTGAATCCCATAA	0.448																																					Ovarian(165;1056 1958 32571 36789 48728)												0								ENSG00000100565						60	55	56					14																	77323731		1895	4109	6004	C14orf166B	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000393774.3:c.1017G>A	14.37:g.77323731G>A		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	26	46.94		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L339	ENST00000393774.3	37	c.1017	CCDS9853.2	14																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.448	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	protein_coding	OTTHUMT00000316592.1	G		-		77323731	1	no_errors	ENST00000393774	ensembl	human	known	74_37	silent	SNP	0.967	A	A	77323731	G	A	77323731	2	1	112	1	0	0	0	0	0	0	0	1	1759	1277	45	2		2	C14orf166B	14	77323731	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	30836	77323731	30025809	780	8275											
ADCK1	57143	genome.wustl.edu	37	chr14	78392116	78392116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaccctagatgctcacgGaagaattccgcctgaattac	7	14	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:78392116G>A	ENST00000238561.5	+	9	1117	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.E272K	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	347	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GATGCTCACGGAAGAATTCCG	0.577																																																	0								ENSG00000063761						62	63	63					14																	78392116		2203	4300	6503	ADCK1	SO:0001583	missense	0			-	HGNC	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1018G>A	14.37:g.78392116G>A	ENSP00000238561:p.Glu340Lys	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.29	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP							pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.E340K	ENST00000238561.5	37	c.1018	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393744	0.42410	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.34859	1.34;1.34	5.26	5.26	0.73747	Protein kinase-like domain (1);	0.269999	0.41396	D	0.000893	T	0.33000	0.0848	L	0.41492	1.28	0.47584	D	0.999464	B;B;B	0.25206	0.014;0.019;0.12	B;B;B	0.28305	0.017;0.019;0.088	T	0.09885	-1.0654	10	0.13853	T	0.58	-17.5678	18.8748	0.92331	0.0:0.0:1.0:0.0	.	347;272;340	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	K	340;272	ENSP00000238561:E340K;ENSP00000339663:E272K	ENSP00000238561:E340K	E	+	1	0	ADCK1	77461869	1.000000	0.71417	0.370000	0.25965	0.320000	0.28249	5.484000	0.66844	2.461000	0.83175	0.643000	0.83706	GAA	-	superfamily_Kinase-like_dom		0.577	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	protein_coding	OTTHUMT00000413864.1	G	NM_020421	-		78392116	1	no_errors	ENST00000238561	ensembl	human	known	74_37	missense	SNP	0.766	A	A	78392116	G	A	78392116	3	1	112	1	0	0	0	0	1	0	0	0	288	1175	41	2	1048	2	ADCK1	14	78392116	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1068385	78392116	28957424	781	8276											
STON2	85439	genome.wustl.edu	37	chr14	81837492	81837492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccccagggagtcaaaGgaagggcatgtccagcaggg	14	11	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:81837492G>A	ENST00000267540.2	-	3	611	c.411C>T	c.(409-411)tcC>tcT	p.S137S	STON2_ENST00000555447.1_Silent_p.S137S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	137					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGGAGTCAAAGGAAGGGCATG	0.473																																																	0								ENSG00000140022						94	92	93					14																	81837492		2203	4300	6503	STON2	SO:0001819	synonymous_variant	0			-	HGNC	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.411C>T	14.37:g.81837492G>A		Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	21	61.11	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP							pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S137	ENST00000267540.2	37	c.411	CCDS9875.1	14																																																																																			-	pfam_Stonin2_N,pirsf_Stonin		0.473	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	protein_coding	OTTHUMT00000413317.1	G	NM_033104	-		81837492	-1	no_errors	ENST00000267540	ensembl	human	known	74_37	silent	SNP	1.000	A	A	81837492	G	A	81837492	2	1	112	1	0	0	0	0	0	0	0	1	15325	987	35	2		2	STON2	14	81837492	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3445376	81837492	25512048	782	8277											
KCNK10	54207	genome.wustl.edu	37	chr14	88729796	88729796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaccactgtggctcgggagGaaatggacaggcgcggagtt	16	9	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:88729796G>A	ENST00000340700.5	-	2	588	c.137C>T	c.(136-138)tCc>tTc	p.S46F	KCNK10_ENST00000312350.5_Missense_Mutation_p.S51F|KCNK10_ENST00000319231.5_Missense_Mutation_p.S51F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	46					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S46F(1)|p.S51F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCTCGGGAGGAAATGGACAG	0.642																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000100433						76	78	78					14																	88729796		2203	4300	6503	KCNK10	SO:0001583	missense	0			-	HGNC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.137C>T	14.37:g.88729796G>A	ENSP00000343104:p.Ser46Phe	Somatic	0	100	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.78	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.S51F	ENST00000340700.5	37	c.152	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882102	0.91740	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.93859	-3.28;-3.3;-3.3;0.47	5.87	5.87	0.94306	.	0.411046	0.29260	N	0.012673	D	0.95417	0.8512	L	0.57536	1.79	0.58432	D	0.99999	D;D;D	0.63046	0.992;0.959;0.992	P;P;P	0.62649	0.905;0.866;0.905	D	0.95266	0.8373	10	0.87932	D	0	.	15.9984	0.80268	0.0:0.1337:0.8663:0.0	.	46;51;51	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	F	46;51;51;34	ENSP00000343104:S46F;ENSP00000310568:S51F;ENSP00000312811:S51F;ENSP00000452587:S34F	ENSP00000310568:S51F	S	-	2	0	KCNK10	87799549	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.587000	0.74071	2.941000	0.99782	0.655000	0.94253	TCC	-	NULL		0.642	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	protein_coding	OTTHUMT00000410167.1	G	NM_021161	-		88729796	-1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88729796	G	A	88729796	3	1	112	1	0	0	0	0	1	0	0	0	8061	1174	41	2	1503	2	KCNK10	14	88729796	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6892304	88729796	18619744	783	8278											
C14orf143	90141	genome.wustl.edu	37	chr14	90263658	90263658	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgtgaccatctgaatctcGatctacttccctggaaaatg	8	11	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:90263658G>A	ENST00000316738.7	-	6	449	c.421C>T	c.(421-423)Cga>Tga	p.R141*	EFCAB11_ENST00000556609.1_Nonsense_Mutation_p.R93*|EFCAB11_ENST00000555872.1_Nonsense_Mutation_p.R117*|RP11-33N16.3_ENST00000555070.1_RNA	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	141	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						TCTGAATCTCGATCTACTTCC	0.378																																																	0								ENSG00000140025						149	130	137					14																	90263658		2203	4300	6503	EFCAB11	SO:0001587	stop_gained	0			-	HGNC	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"EF-hand domain containing"	20357	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 143"	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.421C>T	14.37:g.90263658G>A	ENSP00000326267:p.Arg141*	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Nonsense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.R141*	ENST00000316738.7	37	c.421	CCDS9887.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.932203	0.97116	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	.	.	.	6.03	6.03	0.97812	.	0.254751	0.32106	N	0.006580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.9104	19.545	0.95291	0.0:0.0:1.0:0.0	.	.	.	.	X	141;117;93	.	ENSP00000326267:R141X	R	-	1	2	EFCAB11	89333411	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.805000	0.75191	2.861000	0.98227	0.655000	0.94253	CGA	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.378	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	protein_coding	OTTHUMT00000309022.2	G	NM_145231	-		90263658	-1	no_errors	ENST00000316738	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	90263658	G	A	90263658	4	1	112	1	0	0	0	0	0	1	0	0	1750	1066	37	1	74	1	C14orf143	14	90263658	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1533862	90263658	17085882	784	8279											
GPR68	8111	genome.wustl.edu	37	chr14	91701269	91701269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtagccgaagtagagGgacaggcagttggccgggaa	18	7	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:91701269G>A	ENST00000531499.2	-	2	465	c.126C>T	c.(124-126)tcC>tcT	p.S42S	GPR68_ENST00000535815.1_Silent_p.S42S|GPR68_ENST00000238699.3_Silent_p.S52S|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	42					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CGAAGTAGAGGGACAGGCAGT	0.617																																																	0								ENSG00000119714						75	68	70					14																	91701269		2203	4300	6503	GPR68	SO:0001819	synonymous_variant	0			-	HGNC	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.126C>T	14.37:g.91701269G>A		Somatic	0	26	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	Q13334|Q4VBB4|Q6IX34	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.S52	ENST00000531499.2	37	c.156	CCDS9894.2	14																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	protein_coding	OTTHUMT00000395245.2	G		-		91701269	-1	no_errors	ENST00000238699	ensembl	human	known	74_37	silent	SNP	0.508	A	A	91701269	G	A	91701269	2	1	112	1	0	0	0	0	0	0	0	1	6709	1219	43	2		2	GPR68	14	91701269	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1437611	91701269	15648271	785	8280											
CATSPERB	79820	genome.wustl.edu	37	chr14	92058283	92058283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatgtgaaaacttctgatCctttgtgcagttacactcct	7	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:92058283C>T	ENST00000256343.3	-	23	2929	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	925					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACTTCTGATCCTTTGTGCAG	0.363																																																	0								ENSG00000133962						166	163	164					14																	92058283		2203	4300	6503	CATSPERB	SO:0001583	missense	0			-	HGNC	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2773G>A	14.37:g.92058283C>T	ENSP00000256343:p.Asp925Asn	Somatic	0	99	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	102	27.14	A0AV51	Missense_Mutation	SNP							superfamily_Sialidases	p.D925N	ENST00000256343.3	37	c.2773	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	6.162	0.398020	0.11696	.	.	ENSG00000133962	ENST00000256343	T	0.41758	0.99	5.27	-4.17	0.03857	.	0.537351	0.16890	N	0.195348	T	0.18045	0.0433	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07673	-1.0760	10	0.29301	T	0.29	-5.0407	1.9382	0.03341	0.3275:0.1895:0.3373:0.1457	.	925	Q9H7T0	CTSRB_HUMAN	N	925	ENSP00000256343:D925N	ENSP00000256343:D925N	D	-	1	0	CATSPERB	91128036	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-0.792000	0.04594	-1.011000	0.03391	-1.889000	0.00537	GAT	-	NULL		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	protein_coding	OTTHUMT00000411769.1	C	NM_024764	-		92058283	-1	no_errors	ENST00000256343	ensembl	human	known	74_37	missense	SNP	0.000	T	T	92058283	C	T	92058283	3	4	112	1	0	0	0	0	1	0	0	0	2693	855	30	2	597	2	CATSPERB	14	92058283	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	357014	92058283	15291257	786	8281											
CATSPERB	79820	genome.wustl.edu	37	chr14	92058305	92058305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgcagttacactcctcCcgagtggaaacattagcaca	8	11	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:92058305C>T	ENST00000256343.3	-	23	2907	c.2751G>A	c.(2749-2751)cgG>cgA	p.R917R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	917					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACACTCCTCCCGAGTGGAAA	0.403																																																	0								ENSG00000133962						154	152	153					14																	92058305		2203	4300	6503	CATSPERB	SO:0001819	synonymous_variant	0			-	HGNC	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2751G>A	14.37:g.92058305C>T		Somatic	0	115	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	85	36.09	A0AV51	Silent	SNP							superfamily_Sialidases	p.R917	ENST00000256343.3	37	c.2751	CCDS32142.1	14																																																																																			-	NULL		0.403	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	protein_coding	OTTHUMT00000411769.1	C	NM_024764	-		92058305	-1	no_errors	ENST00000256343	ensembl	human	known	74_37	silent	SNP	0.021	T	T	92058305	C	T	92058305	2	4	112	1	0	0	0	0	0	0	0	1	2693	610	22	2		2	CATSPERB	14	92058305	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	22	92058305	15291235	787	8282											
SERPINA10	51156	genome.wustl.edu	37	chr14	94756286	94756286	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaacagtttgggaattttCccccgagtctctttgttaat	7	9	2	0	rs367966236		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:94756286C>T	ENST00000393096.1	-	2	1110	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000261994.4_Silent_p.G215G|SERPINA10_ENST00000554723.1_Silent_p.G255G	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	215					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G215G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGAATTTTCCCCCGAGTCT	0.388																																																	1	Substitution - coding silent(1)	pancreas(1)						ENSG00000140093	C	,	0,4406		0,0,2203	94	96	95		645,645	1.9	0.2	14		95	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SERPINA10	NM_001100607.1,NM_016186.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	215/445,215/445	94756286	1,13005	2203	4300	6503	SERPINA10	SO:0001819	synonymous_variant	0			-	HGNC	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.645G>A	14.37:g.94756286C>T		Somatic	0	98	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	54	45.45	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G215	ENST00000393096.1	37	c.645	CCDS9923.1	14																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.388	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	protein_coding	OTTHUMT00000413061.1	C	NM_016186	-		94756286	-1	no_errors	ENST00000261994	ensembl	human	known	74_37	silent	SNP	0.964	T	T	94756286	C	T	94756286	2	4	112	1	0	0	0	0	0	0	0	1	14095	842	30	2		2	SERPINA10	14	94756286	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2697981	94756286	12593254	788	8283											
SERPINA3	12	genome.wustl.edu	37	chr14	95085653	95085653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactataccttacttccgGgacgaggagctgtcctgcac	10	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:95085653G>A	ENST00000467132.1	+	3	1913	c.765G>A	c.(763-765)cgG>cgA	p.R255R	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.R37R|SERPINA3_ENST00000393078.3_Silent_p.R255R|SERPINA3_ENST00000393080.4_Silent_p.R255R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	255					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTTACTTCCGGGACGAGGAGC	0.507																																																	0								ENSG00000196136						126	94	105					14																	95085653		2203	4300	6503	SERPINA3	SO:0001819	synonymous_variant	0			-	HGNC	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.765G>A	14.37:g.95085653G>A		Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R255	ENST00000467132.1	37	c.765	CCDS32150.1	14																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	protein_coding	OTTHUMT00000268080.3	G	NM_001085	-		95085653	1	no_errors	ENST00000393078	ensembl	human	known	74_37	silent	SNP	0.970	A	A	95085653	G	A	95085653	2	1	112	1	0	0	0	0	0	0	0	1	14098	1219	43	2		2	SERPINA3	14	95085653	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	329367	95085653	12263887	789	8284											
SERPINA3	12	genome.wustl.edu	37	chr14	95088710	95088710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctacctgccaaagttttCcatctcgagggactataacc	7	13	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:95088710C>T	ENST00000467132.1	+	4	2098	c.950C>T	c.(949-951)tCc>tTc	p.S317F	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S99F|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S317F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S317F			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	317					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCAAAGTTTTCCATCTCGAGG	0.507																																																	0								ENSG00000196136						139	127	131					14																	95088710		2203	4300	6503	SERPINA3	SO:0001583	missense	0			-	HGNC	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.950C>T	14.37:g.95088710C>T	ENSP00000450540:p.Ser317Phe	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	39	44.29	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S317F	ENST00000467132.1	37	c.950	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032667	0.35893	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.6	2.7	0.31948	Serpin domain (3);	0.100159	0.43747	D	0.000532	D	0.92463	0.7607	H	0.94264	3.515	0.40030	D	0.975514	D;D	0.65815	0.995;0.983	P;P	0.60286	0.872;0.652	D	0.92464	0.5980	10	0.87932	D	0	.	9.8863	0.41264	0.1575:0.6908:0.1518:0.0	.	317;342	P01011;G3V5I3	AACT_HUMAN;.	F	342;317;317;317;99	ENSP00000452367:S342F;ENSP00000376793:S317F;ENSP00000376795:S317F;ENSP00000450540:S317F;ENSP00000451119:S99F	ENSP00000376793:S317F	S	+	2	0	SERPINA3	94158463	0.594000	0.26849	0.996000	0.52242	0.059000	0.15707	2.101000	0.41787	0.505000	0.28104	0.462000	0.41574	TCC	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	protein_coding	OTTHUMT00000268080.3	C	NM_001085	-		95088710	1	no_errors	ENST00000393078	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95088710	C	T	95088710	3	4	112	1	0	0	0	0	1	0	0	0	14098	855	30	2	960	2	SERPINA3	14	95088710	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3057	95088710	12260830	790	8285											
RTL1	388015	genome.wustl.edu	37	chr14	101349282	101349282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacccacaggttcccaaGgcgcggtggagggacactcg	15	13	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:101349282G>A	ENST00000534062.1	-	1	1902	c.1844C>T	c.(1843-1845)cCt>cTt	p.P615L	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	615					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGTTCCCAAGGCGCGGTGGA	0.552																																																	0								ENSG00000254656						44	39	41					14																	101349282		1568	3582	5150	RTL1	SO:0001583	missense	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1844C>T	14.37:g.101349282G>A	ENSP00000435342:p.Pro615Leu	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	19	56.82	E9PKS8	Missense_Mutation	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.P615L	ENST00000534062.1	37	c.1844	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237146	0.39498	.	.	ENSG00000254656	ENST00000534062	T	0.71461	-0.57	3.54	3.54	0.40534	.	0.000000	0.32093	N	0.006597	T	0.74635	0.3742	M	0.68952	2.095	0.09310	N	0.999999	D	0.54047	0.964	P	0.50860	0.652	T	0.69510	-0.5126	10	0.72032	D	0.01	.	13.4168	0.60974	0.0:0.0:1.0:0.0	.	615	E9PKS8	.	L	615	ENSP00000435342:P615L	ENSP00000435342:P615L	P	-	2	0	RTL1	100419035	0.697000	0.27767	0.008000	0.14137	0.902000	0.53008	5.962000	0.70364	2.283000	0.76528	0.467000	0.42956	CCT	-	NULL		0.552	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	G	NM_001134888	-		101349282	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	SNP	0.100	A	A	101349282	G	A	101349282	3	1	112	1	0	0	0	0	1	0	0	0	13732	1000	35	2	2236	2	RTL1	14	101349282	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6260572	101349282	6000258	791	8286											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890900	23890900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgggcctgctggggggGtagctggatttgcacggctt	18	9	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:23890900G>A	ENST00000532292.1	-	1	275	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					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)		TGCTGGGGGGGTAGCTGGATT	0.701																																																	0								ENSG00000254585						6	8	7					15																	23890900		1846	4016	5862	MAGEL2	SO:0001583	missense	0			-	HGNC	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.181C>T	15.37:g.23890900G>A	ENSP00000433433:p.Pro61Ser	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33		Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.P61S	ENST00000532292.1	37	c.181		15																																																																																			-	NULL		0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	protein_coding	OTTHUMT00000395182.2	G	NM_019066	-		23890900	-1	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	SNP	0.935	A	A	23890900	G	A	23890900	3	1	112	1	0	0	0	0	1	0	0	0	9191	1261	44	2	1763	2	MAGEL2	15	23890900	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		23890900	78640492	792	8287											
RYR3	6263	genome.wustl.edu	37	chr15	33928630	33928630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtacctggcagccaggGgatgtggtcggatgtatgat	18	7	0	1	rs183590100		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:33928630G>A	ENST00000389232.4	+	27	3505	c.3435G>A	c.(3433-3435)ggG>ggA	p.G1145G	RYR3_ENST00000415757.3_Silent_p.G1145G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1145	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		GGCAGCCAGGGGATGTGGTCG	0.502																																																	0								ENSG00000198838						211	213	212					15																	33928630		2091	4221	6312	RYR3	SO:0001819	synonymous_variant	0			-	HGNC		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.3435G>A	15.37:g.33928630G>A		Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	30	53.12	O15175|Q15412	Silent	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G1145	ENST00000389232.4	37	c.3435	CCDS45210.1	15																																																																																			-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		33928630	1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	SNP	0.970	A	A	33928630	G	A	33928630	2	1	112	1	0	0	0	0	0	0	0	1	13778	1219	43	2		2	RYR3	15	33928630	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10037730	33928630	68602762	793	8288											
RYR3	6263	genome.wustl.edu	37	chr15	34042484	34042484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgaatggcatcatagtttCcaggtaagtcaccttccatg	9	9	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:34042484C>T	ENST00000389232.4	+	57	8466	c.8396C>T	c.(8395-8397)tCc>tTc	p.S2799F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2799F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2799	4 X approximate repeats.				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)		ATCATAGTTTCCAGGTAAGTC	0.468																																																	0								ENSG00000198838						82	77	78					15																	34042484		1941	4150	6091	RYR3	SO:0001583	missense	0			-	HGNC		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.8396C>T	15.37:g.34042484C>T	ENSP00000373884:p.Ser2799Phe	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O15175|Q15412	Missense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S2799F	ENST00000389232.4	37	c.8396	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039241	0.35989	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91843	-2.92;-2.92	4.75	4.75	0.60458	Ryanodine receptor Ryr (1);	0.227351	0.36444	N	0.002584	D	0.93177	0.7827	L	0.43152	1.355	0.49213	D	0.99976	P;P	0.51057	0.941;0.843	P;P	0.57468	0.648;0.821	D	0.92513	0.6018	10	0.40728	T	0.16	.	18.2902	0.90127	0.0:1.0:0.0:0.0	.	2799;2799	Q15413-2;Q15413	.;RYR3_HUMAN	F	2799	ENSP00000373884:S2799F;ENSP00000399610:S2799F	ENSP00000354735:S2799F	S	+	2	0	RYR3	31829776	0.999000	0.42202	0.994000	0.49952	0.069000	0.16628	3.734000	0.55037	2.619000	0.88677	0.655000	0.94253	TCC	-	pfam_Ryanodine_rcpt,superfamily_ARM-type_fold		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		34042484	1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	0.993	T	T	34042484	C	T	34042484	3	4	112	1	0	0	0	0	1	0	0	0	13778	855	30	2	8622	2	RYR3	15	34042484	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	113854	34042484	68488908	794	8289											
TMCO5A	145942	genome.wustl.edu	37	chr15	38229552	38229552	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttctctctcacaggaaagGaagaataagacgttggtcca	9	8	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:38229552G>A	ENST00000319669.4	+	4	372	c.270G>A	c.(268-270)agG>agA	p.R90R	TMCO5A_ENST00000559502.1_Silent_p.R90R|TMCO5A_ENST00000558158.1_Silent_p.R90R|TMCO5A_ENST00000540944.1_Silent_p.R90R	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	90						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CACAGGAAAGGAAGAATAAGA	0.428																																																	0								ENSG00000166069						143	135	138					15																	38229552		2200	4297	6497	TMCO5A	SO:0001819	synonymous_variant	0			-	HGNC	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.270G>A	15.37:g.38229552G>A		Somatic	0	104	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	37	49.32	Q8NA63	Silent	SNP							NULL	p.R90	ENST00000319669.4	37	c.270	CCDS10046.1	15																																																																																			-	NULL		0.428	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	protein_coding	OTTHUMT00000252012.1	G	NM_152453	-		38229552	1	no_errors	ENST00000319669	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38229552	G	A	38229552	2	1	112	1	0	0	0	0	0	0	0	1	16006	1165	41	2		2	TMCO5A	15	38229552	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4187068	38229552	64301840	795	8290											
TTBK2	146057	genome.wustl.edu	37	chr15	43045091	43045091	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcatcttcattatctgactCtaaaaggatgcttttctctt	4	10	6	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:43045091C>T	ENST00000267890.6	-	14	2461	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	785					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTATCTGACTCTAAAAGGATG	0.413																																																	0								ENSG00000128881						148	136	140					15																	43045091		1861	4102	5963	TTBK2	SO:0001583	missense	0			-	HGNC	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2353G>A	15.37:g.43045091C>T	ENSP00000267890:p.Glu785Lys	Somatic	0	71	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	26	51.85	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E785K	ENST00000267890.6	37	c.2353	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941461	0.53079	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.38560	1.13	5.87	5.87	0.94306	.	0.553854	0.19814	N	0.105471	T	0.27731	0.0682	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06180	-1.0841	10	0.30854	T	0.27	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	716;785	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	K	785;715;1190	ENSP00000267890:E785K	ENSP00000263802:E1190K	E	-	1	0	TTBK2	40832383	0.934000	0.31675	0.854000	0.33618	0.891000	0.51852	2.579000	0.46059	2.785000	0.95823	0.655000	0.94253	GAG	-	NULL		0.413	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	protein_coding	OTTHUMT00000431106.2	C	NM_173500	-		43045091	-1	no_errors	ENST00000267890	ensembl	human	known	74_37	missense	SNP	0.978	T	T	43045091	C	T	43045091	3	4	112	1	0	0	0	0	1	0	0	0	16684	922	32	2	1389	2	TTBK2	15	43045091	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4815539	43045091	59486301	796	8291											
TP53BP1	7158	genome.wustl.edu	37	chr15	43767783	43767783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaagactgtcctgaacAagggacctctgaccagagag	13	9	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:43767783A>G	ENST00000263801.3	-	9	1302	c.1050T>C	c.(1048-1050)ctT>ctC	p.L350L	TP53BP1_ENST00000450115.2_Silent_p.L355L|TP53BP1_ENST00000382044.4_Silent_p.L355L|TP53BP1_ENST00000382039.3_Silent_p.L355L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	350					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTCCTGAACAAGGGACCTCT	0.498								Other conserved DNA damage response genes																																									0								ENSG00000067369						98	104	102					15																	43767783		2201	4298	6499	TP53BP1	SO:0001819	synonymous_variant	0			-	HGNC	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1050T>C	15.37:g.43767783A>G		Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	9	70.97	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP							pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L355	ENST00000263801.3	37	c.1065	CCDS10096.1	15																																																																																			-	NULL		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	protein_coding	OTTHUMT00000132897.3	A		-		43767783	-1	no_errors	ENST00000382044	ensembl	human	known	74_37	silent	SNP	0.996	G	G	43767783	A	G	43767783	2	3	112	1	0	0	0	0	0	0	0	1	16390	117	5	5		5	TP53BP1	15	43767783	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	722692	43767783	58763609	797	8292											
EIF3J	8669	genome.wustl.edu	37	chr15	44829395	44829397	+	Start_Codon_Del	DEL	GGC	GGC	-													gctcacacccggctcgagatGgcggcggcggcggcggcggc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GGC	GGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:44829395_44829397delGGC	ENST00000535391.1	+	0	15_17				EIF3J_ENST00000424492.3_Start_Codon_Del|EIF3J_ENST00000261868.5_Start_Codon_Del|EIF3J-AS1_ENST00000313807.4_lincRNA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGCTCGAGATggcggcggcggcg	0.719																																																	0								ENSG00000104131			1,1,72,3298		0,0,0,1,0,0,1,8,56,1620						4.4	1			13	26,28,170,6976		4,0,0,18,1,0,26,11,148,3392	no	codingComplex	EIF3J	NM_003758.2		4,0,0,19,1,0,27,19,204,5012	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.1111,2.1945,2.8188				27,29,242,10274				EIF3J	SO:0001582	initiator_codon_variant	0				HGNC	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158		15.37:g.44829404_44829406delGGC		Somatic	0	20	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00		In_Frame_Del	DEL							pfam_eIF3j	p.A5in_frame_del	ENST00000535391.1	37	c.3_5		15																																																																																			-	NULL		0.719	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J	protein_coding	OTTHUMT00000396804.1	GGC	NM_003758			44829397	1	no_errors	ENST00000261868	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	44829397	GGC	-	44829395	7	5	112	1	0	1	0	1	0	0	0	0	5022	1348	47	0	5	0	EIF3J	15	44829395	Start_Codon_Del	DEL	GGC	TCGA-DX-AB2E-01A-11D-A38Z-09	1061612	44829395	57701997	798	8293											
HDC	3067	genome.wustl.edu	37	chr15	50535063	50535063	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaatgagattccagtctctCaggatgtcatccctagtggt	10	10	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:50535063C>A	ENST00000267845.3	-	12	1785	c.1383G>T	c.(1381-1383)ctG>ctT	p.L461L	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Silent_p.L428L	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TCCAGTCTCTCAGGATGTCAT	0.517																																					GBM(95;1627 1936 6910 9570)												0								ENSG00000140287						40	45	43					15																	50535063		2195	4294	6489	HDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1383G>T	15.37:g.50535063C>A		Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Silent	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.L461	ENST00000267845.3	37	c.1383	CCDS10134.1	15																																																																																			-	superfamily_PyrdxlP-dep_Trfase		0.517	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	C		-		50535063	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50535063	C	A	50535063	2	1	112	1	0	0	0	0	0	0	0	1	7017	813	29	3		3	HDC	15	50535063	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5705668	50535063	51996329	799	8294											
DMXL2	23312	genome.wustl.edu	37	chr15	51773074	51773074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaatttccttttcaaGccagttatagagttgaaatc	8	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:51773074G>A	ENST00000251076.5	-	24	6516	c.6229C>T	c.(6229-6231)Ctt>Ttt	p.L2077F	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L1441F|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2077F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2077						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTTTTCAAGCCAGTTATAG	0.348																																																	0								ENSG00000104093						104	103	103					15																	51773074		2196	4293	6489	DMXL2	SO:0001583	missense	0			-	HGNC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6229C>T	15.37:g.51773074G>A	ENSP00000251076:p.Leu2077Phe	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2077F	ENST00000251076.5	37	c.6229	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039843	0.75732	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.97110	0.999;0.99;0.995;1.0	D	0.89729	0.3925	10	0.87932	D	0	.	13.0079	0.58717	0.0738:0.0:0.9262:0.0	.	2077;1441;2077;2077	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	F	2077;2077;1441	ENSP00000251076:L2077F;ENSP00000441858:L2077F;ENSP00000400855:L1441F	ENSP00000251076:L2077F	L	-	1	0	DMXL2	49560366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.622000	0.61240	2.669000	0.90835	0.655000	0.94253	CTT	-	NULL		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	G	NM_015263	-		51773074	-1	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51773074	G	A	51773074	3	1	112	1	0	0	0	0	1	0	0	0	4597	971	34	2	2964	2	DMXL2	15	51773074	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1238011	51773074	50758318	800	8295											
MYO5C	55930	genome.wustl.edu	37	chr15	52567795	52567795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaggaccttgtcttcCacgtgagcgttgctgcccga	12	13	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:52567795C>T	ENST00000261839.7	-	5	731	c.570G>A	c.(568-570)gtG>gtA	p.V190V	MYO5C_ENST00000443683.2_Silent_p.V133V|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	190	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTGTCTTCCACGTGAGCGT	0.552																																																	0								ENSG00000128833						123	122	122					15																	52567795		2133	4236	6369	MYO5C	SO:0001819	synonymous_variant	0			-	HGNC	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.570G>A	15.37:g.52567795C>T		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	25	48.98	Q6P1W8	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V190	ENST00000261839.7	37	c.570	CCDS42036.1	15																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.552	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	protein_coding	OTTHUMT00000419562.1	C	NM_018728	-		52567795	-1	no_errors	ENST00000261839	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52567795	C	T	52567795	2	4	112	1	0	0	0	0	0	0	0	1	10082	581	21	2		2	MYO5C	15	52567795	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	794721	52567795	49963597	801	8296											
CGNL1	84952	genome.wustl.edu	37	chr15	57731263	57731263	+	Frame_Shift_Del	DEL	T	T	-													caattcctggtgtggatcagTtaattgaaaaatttgatcaa							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:57731263delT	ENST00000281282.5	+	2	1144	c.1066delT	c.(1066-1068)ttafs	p.L356fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	356	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGTGGATCAGTTAATTGAAAA	0.428																																																	0								ENSG00000128849						45	48	47					15																	57731263		2192	4292	6484	CGNL1	SO:0001589	frameshift_variant	0				HGNC	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1066delT	15.37:g.57731263delT	ENSP00000281282:p.Leu356fs	Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	34	46.03	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Frame_Shift_Del	DEL							pfam_Myosin_tail,prints_Tropomyosin	p.L356fs	ENST00000281282.5	37	c.1066	CCDS10161.1	15																																																																																			-	NULL		0.428	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	protein_coding	OTTHUMT00000255482.2	T	NM_032866			57731263	1	no_errors	ENST00000281282	ensembl	human	known	74_37	frame_shift_del	DEL	0.962	-	-	57731263	T	-	57731263	7	5	112	1	0	1	0	1	0	0	0	0	3306	1722	60	0	1068	0	CGNL1	15	57731263	Frame_Shift_Del	DEL	T	TCGA-DX-AB2E-01A-11D-A38Z-09	5163468	57731263	44800129	802	8297											
SLTM	79811	genome.wustl.edu	37	chr15	59182582	59182582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctctctctctctgtaaGcgttcccgttcttcccgttc	6	17	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:59182582G>A	ENST00000380516.2	-	15	2064	c.1977C>T	c.(1975-1977)cgC>cgT	p.R659R	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.R228R	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	659	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						CTCTCTGTAAGCGTTCCCGTT	0.453																																																	0								ENSG00000137776						108	108	108					15																	59182582		2192	4292	6484	SLTM	SO:0001819	synonymous_variant	0			-	HGNC	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.1977C>T	15.37:g.59182582G>A		Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP							pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R659	ENST00000380516.2	37	c.1977	CCDS10168.2	15																																																																																			-	NULL		0.453	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	protein_coding	OTTHUMT00000157124.1	G	NM_024755	-		59182582	-1	no_errors	ENST00000380516	ensembl	human	known	74_37	silent	SNP	1.000	A	A	59182582	G	A	59182582	2	1	112	1	0	0	0	0	0	0	0	1	14762	958	34	2		2	SLTM	15	59182582	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1451319	59182582	43348810	803	8298											
PPIB	5479	genome.wustl.edu	37	chr15	64452346	64452346	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtctccgccctggatcatGaagtccttgattacacgatg	9	11	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:64452346G>A	ENST00000300026.3	-	3	518	c.300C>T	c.(298-300)ttC>ttT	p.F100F	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	100	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCTGGATCATGAAGTCCTTGA	0.512																																					GBM(105;399 1481 32889 33051 36637)												0								ENSG00000166794						203	159	174					15																	64452346		2203	4300	6503	PPIB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.300C>T	15.37:g.64452346G>A		Somatic	0	94	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	A8K534|Q6IBH5|Q9BVK5	Silent	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.F100	ENST00000300026.3	37	c.300	CCDS10191.1	15																																																																																			-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.512	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	protein_coding	OTTHUMT00000256604.1	G		-		64452346	-1	no_errors	ENST00000300026	ensembl	human	known	74_37	silent	SNP	1.000	A	A	64452346	G	A	64452346	2	1	112	1	0	0	0	0	0	0	0	1	12324	1281	45	2		2	PPIB	15	64452346	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5269764	64452346	38079046	804	8299											
CCDC33	80125	genome.wustl.edu	37	chr15	74588137	74588137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacaacagcaaggctcttCctaccttggaccccaagatc	6	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:74588137C>T	ENST00000398814.3	+	11	1569	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	CCDC33_ENST00000321288.5_Missense_Mutation_p.P583S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	583										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						CAAGGCTCTTCCTACCTTGGA	0.512																																																	0								ENSG00000140481						77	77	77					15																	74588137		1946	4132	6078	CCDC33	SO:0001583	missense	0			-	HGNC	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.1138C>T	15.37:g.74588137C>T	ENSP00000381795:p.Pro380Ser	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom	p.P583S	ENST00000398814.3	37	c.1747	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814340	0.50527	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.60672	0.17;0.48	4.92	4.92	0.64577	.	0.110096	0.39544	N	0.001322	T	0.74114	0.3674	M	0.71581	2.175	0.42866	D	0.994122	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.75676	-0.3235	10	0.46703	T	0.11	.	15.0191	0.71613	0.0:1.0:0.0:0.0	.	583;380	C9JFX2;Q8N5R6-6	.;.	S	583;380	ENSP00000325012:P583S;ENSP00000381795:P380S	ENSP00000325012:P583S	P	+	1	0	CCDC33	72375190	0.997000	0.39634	0.699000	0.30290	0.282000	0.26991	3.773000	0.55333	2.279000	0.76181	0.561000	0.74099	CCT	-	NULL		0.512	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	protein_coding	OTTHUMT00000419491.2	C	NM_182791	-		74588137	1	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	SNP	0.897	T	T	74588137	C	T	74588137	3	4	112	1	0	0	0	0	1	0	0	0	2808	855	30	2	1180	2	CCDC33	15	74588137	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10135791	74588137	27943255	805	8300											
SH2D7	646892	genome.wustl.edu	37	chr15	78393345	78393345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacctgaggaggatgaaCcaggcacggctaggcttggg	17	9	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:78393345C>T	ENST00000328828.5	+	5	750	c.750C>T	c.(748-750)aaC>aaT	p.N250N	SH2D7_ENST00000409568.2_Silent_p.N114N	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	250										endometrium(2)|kidney(2)|lung(3)	7						GGAGGATGAACCAGGCACGGC	0.612																																																	0								ENSG00000183476						36	41	40					15																	78393345		1975	4157	6132	SH2D7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.750C>T	15.37:g.78393345C>T		Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50		Silent	SNP							NULL	p.N114	ENST00000328828.5	37	c.342	CCDS45315.1	15																																																																																			-	NULL		0.612	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	protein_coding	OTTHUMT00000334660.2	C	NM_001101404	-		78393345	1	no_errors	ENST00000409568	ensembl	human	putative	74_37	silent	SNP	0.007	T	T	78393345	C	T	78393345	2	4	112	1	0	0	0	0	0	0	0	1	14247	506	18	2		2	SH2D7	15	78393345	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3805208	78393345	24138047	806	8301											
ADAMTS7	11173	genome.wustl.edu	37	chr15	79058437	79058437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggccccaggccaccctcCagagctggctcccaggccac	10	20	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:79058437C>T	ENST00000388820.4	-	19	4026	c.3816G>A	c.(3814-3816)ctG>ctA	p.L1272L	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1272					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCACCCTCCAGAGCTGGCT	0.642																																																	0								ENSG00000136378						22	23	23					15																	79058437		2180	4287	6467	ADAMTS7	SO:0001819	synonymous_variant	0			-	HGNC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3816G>A	15.37:g.79058437C>T		Somatic	0	246	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	113	31.93	Q14F51|Q6P7J9	Silent	SNP							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L1272	ENST00000388820.4	37	c.3816	CCDS32303.1	15																																																																																			-	NULL		0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	protein_coding	OTTHUMT00000421331.1	C	NM_014272	-		79058437	-1	no_errors	ENST00000388820	ensembl	human	known	74_37	silent	SNP	0.000	T	T	79058437	C	T	79058437	2	4	112	1	0	0	0	0	0	0	0	1	271	581	21	2		2	ADAMTS7	15	79058437	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	665092	79058437	23472955	807	8302											
RASGRF1	5923	genome.wustl.edu	37	chr15	79341923	79341923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcattgtccttgagcaggGatgtgatctgcaacagcaac	11	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:79341923G>A	ENST00000419573.3	-	4	813	c.539C>T	c.(538-540)tCc>tTc	p.S180F	RASGRF1_ENST00000558480.2_Missense_Mutation_p.S180F|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	180					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGAGCAGGGATGTGATCTG	0.582																																																	0								ENSG00000058335						110	86	94					15																	79341923		2196	4293	6489	RASGRF1	SO:0001583	missense	0			-	HGNC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.539C>T	15.37:g.79341923G>A	ENSP00000405963:p.Ser180Phe	Somatic	0	10	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S180F	ENST00000419573.3	37	c.539	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548514	0.45383	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.44083	0.93	5.15	4.21	0.49690	.	128.808000	0.00357	N	0.000022	T	0.44519	0.1297	L	0.29908	0.895	0.19775	N	0.99996	B;B;B;B	0.31435	0.323;0.323;0.323;0.244	B;B;B;B	0.38428	0.106;0.212;0.141;0.273	T	0.49214	-0.8963	10	0.72032	D	0.01	.	12.3813	0.55309	0.0:0.0:0.8245:0.1755	.	180;180;180;180	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	180	ENSP00000405963:S180F	ENSP00000378224:S180F	S	-	2	0	RASGRF1	77128978	0.994000	0.37717	0.729000	0.30791	0.668000	0.39293	3.100000	0.50275	1.320000	0.45209	0.650000	0.86243	TCC	-	NULL		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	G	NM_002891	-		79341923	-1	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	SNP	0.083	A	A	79341923	G	A	79341923	3	1	112	1	0	0	0	0	1	0	0	0	13080	1174	41	2	3382	2	RASGRF1	15	79341923	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	283486	79341923	23189469	808	8303											
AP3B2	8120	genome.wustl.edu	37	chr15	83328343	83328343	+	Missense_Mutation	SNP	A	A	T													gagcctgtatcacatcctttAccagcatggtgccaatcacc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:83328343A>T	ENST00000261722.3	-	26	3425	c.3218T>A	c.(3217-3219)gTa>gAa	p.V1073E	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.V1041E|AP3B2_ENST00000535359.1_Missense_Mutation_p.V1092E	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1073					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACATCCTTTACCAGCATGGT	0.552																																																	0								ENSG00000103723						100	95	97					15																	83328343		2057	4199	6256	AP3B2	SO:0001583	missense	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3218T>A	15.37:g.83328343A>T	ENSP00000261722:p.Val1073Glu	Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.V1073E	ENST00000261722.3	37	c.3218	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210199	0.79240	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.58506	0.33;0.33;0.33	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.62723	1.935	0.80722	D	1	D;B;B	0.76494	0.999;0.421;0.421	D;B;B	0.68353	0.957;0.203;0.203	T	0.72737	-0.4203	10	0.87932	D	0	-19.9498	9.6678	0.39994	0.9215:0.0:0.0785:0.0	.	1041;1092;1073	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	E	1073;1041;1092	ENSP00000261722:V1073E;ENSP00000438721:V1041E;ENSP00000440984:V1092E	ENSP00000261722:V1073E	V	-	2	0	AP3B2	81125398	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.271000	0.58902	2.043000	0.60533	0.379000	0.24179	GTA	-	pirsf_AP3_beta		0.552	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	A		-		83328343	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83328343	A	T	83328343	3	4	112	1	0	0	0	0	1	0	0	0	745	391	14	5	34	5	AP3B2	15	83328343	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	3986420	83328343	19203049	809	8304	132	2									
AP3B2	8120	genome.wustl.edu	37	chr15	83328344	83328344	+	Missense_Mutation	SNP	C	C	T													agcctgtatcacatcctttaCcagcatggtgccaatcacca					rs201769141		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:83328344C>T	ENST00000261722.3	-	26	3424	c.3217G>A	c.(3217-3219)Gta>Ata	p.V1073I	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.V1041I|AP3B2_ENST00000535359.1_Missense_Mutation_p.V1092I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1073					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACATCCTTTACCAGCATGGTG	0.552																																																	0								ENSG00000103723						99	95	96					15																	83328344		2057	4198	6255	AP3B2	SO:0001583	missense	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3217G>A	15.37:g.83328344C>T	ENSP00000261722:p.Val1073Ile	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.V1073I	ENST00000261722.3	37	c.3217	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590417	0.66219	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.56776	0.44;0.44;0.44	5.09	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.62723	1.935	0.80722	D	1	D;B;B	0.63880	0.993;0.131;0.131	P;B;B	0.59825	0.864;0.058;0.058	T	0.70641	-0.4816	10	0.62326	D	0.03	-19.9498	15.7835	0.78281	0.0:0.8632:0.1368:0.0	.	1041;1092;1073	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	1073;1041;1092	ENSP00000261722:V1073I;ENSP00000438721:V1041I;ENSP00000440984:V1092I	ENSP00000261722:V1073I	V	-	1	0	AP3B2	81125399	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.702000	0.68332	1.254000	0.44035	0.462000	0.41574	GTA	-	pirsf_AP3_beta		0.552	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	C		rs201769141		83328344	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83328344	C	T	83328344	3	4	112	1	0	0	0	0	1	0	0	0	745	507	18	2	35	2	AP3B2	15	83328344	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	83328344	19203048	810	8305	132	2									
ALPK3	57538	genome.wustl.edu	37	chr15	85383923	85383923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccacacactccttgacCccccagccgactaggccttt	6	20	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:85383923C>T	ENST00000258888.5	+	5	2186	c.2019C>T	c.(2017-2019)acC>acT	p.T673T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	673					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)			ACTCCTTGACCCCCCAGCCGA	0.622																																																	0								ENSG00000136383						40	39	39					15																	85383923		2203	4299	6502	ALPK3	SO:0001819	synonymous_variant	0			-	HGNC	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.2019C>T	15.37:g.85383923C>T		Somatic	0	139	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	78	21.21	Q9P2L6	Silent	SNP							pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.T673	ENST00000258888.5	37	c.2019	CCDS10333.1	15																																																																																			-	NULL		0.622	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	protein_coding	OTTHUMT00000308997.1	C	NM_020778	-		85383923	1	no_errors	ENST00000258888	ensembl	human	known	74_37	silent	SNP	0.019	T	T	85383923	C	T	85383923	2	4	112	1	0	0	0	0	0	0	0	1	546	610	22	2		2	ALPK3	15	85383923	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2055579	85383923	17147469	811	8306											
AGBL1	123624	genome.wustl.edu	37	chr15	86791006	86791006	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgcctacgtgcagatcCgacggggcttgctgctctgc	12	15	1	1	rs199894757	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:86791006C>T	ENST00000441037.2	+	6	588	c.493C>T	c.(493-495)Cga>Tga	p.R165*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.R165*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	165					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)			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						CGTGCAGATCCGACGGGGCTT	0.652													C|||	3	0.000599042	0	0.0029	5008	,	,		19517	0		0.001	False		,,,				2504	0																0								ENSG00000166748	C	stop/ARG	0,4312		0,0,2156	39	41	41		493	5.2	1	15		41	3,8513		0,3,4255	yes	stop-gained	AGBL1	NM_152336.2		0,3,6411	TT,TC,CC		0.0352,0.0,0.0234		165/1067	86791006	3,12825	2156	4258	6414	AGBL1	SO:0001587	stop_gained	0			-	HGNC	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.493C>T	15.37:g.86791006C>T	ENSP00000413001:p.Arg165*	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP							pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R165*	ENST00000441037.2	37	c.493	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.429605	0.96131	0.0	3.52E-4	ENSG00000166748	ENST00000441037;ENST00000421325	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3585	15.8036	0.78473	0.0:1.0:0.0:0.0	.	.	.	.	X	194;165	.	ENSP00000397173:R165X	R	+	1	2	AGBL1	84592010	1.000000	0.71417	0.995000	0.50966	0.118000	0.20060	7.080000	0.76837	2.394000	0.81467	0.561000	0.74099	CGA	-	superfamily_ARM-type_fold		0.652	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	protein_coding	OTTHUMT00000314929.5	C	NM_152336	rs199894757		86791006	1	no_errors	ENST00000441037	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	86791006	C	T	86791006	4	4	112	1	0	0	0	0	0	1	0	0	375	644	23	1	511	1	AGBL1	15	86791006	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1407083	86791006	15740386	812	8307											
POLG	5428	genome.wustl.edu	37	chr15	89869847	89869847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcagggctcacccagGgtgtccaggaaggtgctggg	20	9	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:89869847G>T	ENST00000268124.5	-	9	2041	c.1708C>A	c.(1708-1710)Cct>Act	p.P570T	POLG_ENST00000442287.2_Missense_Mutation_p.P570T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	570					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTCACCCAGGGTGTCCAGGA	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0								ENSG00000140521						49	49	49					15																	89869847		2200	4299	6499	POLG	SO:0001583	missense	0			-	HGNC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1708C>A	15.37:g.89869847G>T	ENSP00000268124:p.Pro570Thr	Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	Q8NFM2|Q92515	Missense_Mutation	SNP							pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.P570T	ENST00000268124.5	37	c.1708	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979267	0.92982	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.97665	-2.21;-2.21;-4.48	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.87456	2.885	0.80722	D	1	D	0.61697	0.99	P	0.52554	0.702	D	0.98931	1.0787	10	0.87932	D	0	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	570	P54098	DPOG1_HUMAN	T	570;570;26	ENSP00000268124:P570T;ENSP00000399851:P570T;ENSP00000432389:P26T	ENSP00000268124:P570T	P	-	1	0	POLG	87670851	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.521000	0.98029	2.648000	0.89879	0.462000	0.41574	CCT	-	pirsf_DNA-dir_DNA_pol_A_mt_sub		0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	protein_coding	OTTHUMT00000312854.2	G	NM_002693	-		89869847	-1	no_errors	ENST00000268124	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89869847	G	T	89869847	3	4	112	1	0	0	0	0	1	0	0	0	12202	1232	43	3	2071	3	POLG	15	89869847	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3078841	89869847	12661545	813	8308											
BLM	641	genome.wustl.edu	37	chr15	91292843	91292843	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatttcttgcagactccGaaggaagttgtatgcactac	9	10	1	2	rs374578971		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:91292843G>A	ENST00000355112.3	+	3	463	c.345G>A	c.(343-345)ccG>ccA	p.P115P	BLM_ENST00000560509.1_Silent_p.P115P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	115					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCAGACTCCGAAGGAAGTTG	0.403			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	0								ENSG00000197299	G		0,4396		0,0,2198	69	69	69		345	-11.4	0	15		69	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	BLM	NM_000057.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		115/1418	91292843	1,12991	2198	4298	6496	BLM	SO:0001819	synonymous_variant	0	Familial Cancer Database		-	HGNC	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.345G>A	15.37:g.91292843G>A		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	81	8.89	Q52M96	Silent	SNP							pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.P115	ENST00000355112.3	37	c.345	CCDS10363.1	15																																																																																			-	NULL		0.403	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	protein_coding	OTTHUMT00000313495.1	G		-		91292843	1	no_errors	ENST00000355112	ensembl	human	known	74_37	silent	SNP	0.000	A	A	91292843	G	A	91292843	2	1	112	1	0	0	0	0	0	0	0	1	1445	1045	37	1		1	BLM	15	91292843	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1422996	91292843	11238549	814	8309											
SV2B	9899	genome.wustl.edu	37	chr15	91769557	91769557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgatggctattaccgcGgcaatgagtccaacccagaa	10	12	0	3	rs150480705		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:91769557G>A	ENST00000394232.1	+	2	534	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	SV2B_ENST00000330276.4_Missense_Mutation_p.G22S|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	22					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTATTACCGCGGCAATGAGTC	0.522													G|||	1	0.000199681	0	0	5008	,	,		22380	0.001		0	False		,,,				2504	0																0								ENSG00000185518	G	,SER/GLY	0,4396		0,0,2198	113	93	99		,64	4.8	0.9	15	dbSNP_134	99	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense	SV2B	NM_001167580.1,NM_014848.4	,56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	,benign	,22/684	91769557	1,12991	2198	4298	6496	SV2B	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.64G>A	15.37:g.91769557G>A	ENSP00000377779:p.Gly22Ser	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.G22S	ENST00000394232.1	37	c.64	CCDS10370.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.01	3.001076	0.54254	0.0	1.16E-4	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.30714	1.52;1.52	5.71	4.78	0.61160	.	0.199593	0.44285	N	0.000461	T	0.28101	0.0693	L	0.46157	1.445	0.36317	D	0.858025	B	0.29766	0.256	B	0.26693	0.072	T	0.24905	-1.0147	10	0.41790	T	0.15	-17.2368	13.8783	0.63667	0.0752:0.0:0.9248:0.0	.	22	Q7L1I2	SV2B_HUMAN	S	22	ENSP00000377779:G22S;ENSP00000332818:G22S	ENSP00000332818:G22S	G	+	1	0	SV2B	89570561	1.000000	0.71417	0.911000	0.35937	0.851000	0.48451	4.179000	0.58290	1.391000	0.46566	0.563000	0.77884	GGC	-	tigrfam_SV2		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	protein_coding	OTTHUMT00000313494.3	G	NM_014848	rs150480705		91769557	1	no_errors	ENST00000330276	ensembl	human	known	74_37	missense	SNP	0.993	A	A	91769557	G	A	91769557	3	1	112	1	0	0	0	0	1	0	0	0	15425	1116	39	1	66	1	SV2B	15	91769557	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	476714	91769557	10761835	815	8310											
CHD2	1106	genome.wustl.edu	37	chr15	93528743	93528743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggctcagacaaatgacAgtgactctgacactgagtct	9	11	4	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:93528743A>G	ENST00000394196.4	+	26	4321	c.3253A>G	c.(3253-3255)Agt>Ggt	p.S1085G	CHD2_ENST00000557381.1_Missense_Mutation_p.S1085G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1085					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAATGACAGTGACTCTGA	0.473																																																	0								ENSG00000173575						79	74	76					15																	93528743		2197	4298	6495	CHD2	SO:0001583	missense	0			-	HGNC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3253A>G	15.37:g.93528743A>G	ENSP00000377747:p.Ser1085Gly	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	C6G482|Q96IP5	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1085G	ENST00000394196.4	37	c.3253	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688049	0.68271	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.79749	-1.3;-1.3	5.42	5.42	0.78866	.	0.000000	0.39985	U	0.001204	D	0.85544	0.5721	L	0.54323	1.7	0.80722	D	1	P;B	0.52842	0.956;0.009	D;B	0.65010	0.931;0.02	T	0.82506	-0.0423	10	0.19147	T	0.46	-15.4162	15.4644	0.75387	1.0:0.0:0.0:0.0	.	1085;1085	O14647;O14647-2	CHD2_HUMAN;.	G	1085	ENSP00000377747:S1085G;ENSP00000451366:S1085G	ENSP00000377747:S1085G	S	+	1	0	CHD2	91329747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	2.049000	0.60858	0.528000	0.53228	AGT	-	NULL		0.473	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	A	NM_001271	-		93528743	1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	SNP	1.000	G	G	93528743	A	G	93528743	3	3	112	1	0	0	0	0	1	0	0	0	3327	188	7	5	3355	5	CHD2	15	93528743	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1759186	93528743	9002649	816	8311											
CHD2	1106	genome.wustl.edu	37	chr15	93528762	93528762	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtgactctgacactgagtCtaagaggcaggcccagagat	12	10	2	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:93528762C>A	ENST00000394196.4	+	26	4340	c.3272C>A	c.(3271-3273)tCt>tAt	p.S1091Y	CHD2_ENST00000557381.1_Missense_Mutation_p.S1091Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1091					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACACTGAGTCTAAGAGGCAG	0.507																																																	0								ENSG00000173575						83	79	80					15																	93528762		2197	4298	6495	CHD2	SO:0001583	missense	0			-	HGNC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3272C>A	15.37:g.93528762C>A	ENSP00000377747:p.Ser1091Tyr	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	C6G482|Q96IP5	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1091Y	ENST00000394196.4	37	c.3272	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255702	0.59321	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.80304	-1.36;-1.36	5.42	5.42	0.78866	.	0.263309	0.19849	U	0.104700	T	0.78419	0.4280	L	0.50333	1.59	0.80722	D	1	B;B	0.33612	0.41;0.419	B;B	0.37304	0.136;0.246	T	0.79315	-0.1854	10	0.66056	D	0.02	-12.7137	13.5067	0.61486	0.0:0.9253:0.0:0.0747	.	1091;1091	O14647;O14647-2	CHD2_HUMAN;.	Y	1091	ENSP00000377747:S1091Y;ENSP00000451366:S1091Y	ENSP00000377747:S1091Y	S	+	2	0	CHD2	91329766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.588000	0.60999	2.533000	0.85409	0.650000	0.86243	TCT	-	NULL		0.507	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	C	NM_001271	-		93528762	1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	SNP	1.000	A	A	93528762	C	A	93528762	3	1	112	1	0	0	0	0	1	0	0	0	3327	913	32	3	3374	3	CHD2	15	93528762	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	19	93528762	9002630	817	8312											
MCTP2	55784	genome.wustl.edu	37	chr15	94945773	94945773	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttctctggtgacattgGcccatccttatgagcataat	7	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:94945773G>A	ENST00000357742.4	+	16	2085				MCTP2_ENST00000331706.4_Missense_Mutation_p.G303D|MCTP2_ENST00000451018.3_Intron|MCTP2_ENST00000557742.1_Missense_Mutation_p.G303D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGACATTGGCCCATCCTTA	0.433																																																	0								ENSG00000140563						163	132	141					15																	94945773		686	1589	2275	MCTP2	SO:0001627	intron_variant	0			-	HGNC	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2085+525G>A	15.37:g.94945773G>A		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.G303D	ENST00000357742.4	37	c.908	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727596	0.30593	.	.	ENSG00000140563	ENST00000331706	T	0.68025	-0.3	4.01	-0.831	0.10789	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.27076	0.076	T	0.25813	-1.0121	8	0.25751	T	0.34	.	2.2217	0.03974	0.1039:0.1508:0.2992:0.4461	.	303	Q6DN12-4	.	D	303	ENSP00000329646:G303D	ENSP00000329646:G303D	G	+	2	0	MCTP2	92746777	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.143000	0.10296	-0.143000	0.11334	0.650000	0.86243	GGC	-	NULL		0.433	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	protein_coding	OTTHUMT00000415060.3	G	NM_018349	-		94945773	1	no_errors	ENST00000331706	ensembl	human	known	74_37	missense	SNP	0.000	A	A	94945773	G	A	94945773	1	1	112	0	1	0	0	0	0	0	0	0	9403	1203	42	2		2	MCTP2	15	94945773	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1417011	94945773	7585619	818	8313											
SYNM	23336	genome.wustl.edu	37	chr15	99672568	99672568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggttccccaactggggGaatctggtgactcagagagc	15	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:99672568G>A	ENST00000336292.6	+	5	4120	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1335	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCAACTGGGGGAATCTGGTGA	0.567																																					Pancreas(125;1071 1762 21750 40003 40381)												0								ENSG00000182253						81	86	84					15																	99672568		2022	4183	6205	SYNM	SO:0001583	missense	0			-	HGNC	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4000G>A	15.37:g.99672568G>A	ENSP00000336775:p.Glu1334Lys	Somatic	0	28	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP							pfam_IF	p.E1334K	ENST00000336292.6	37	c.4000		15	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330173	0.41297	.	.	ENSG00000182253	ENST00000336292	D	0.82984	-1.67	5.52	3.63	0.41609	.	.	.	.	.	T	0.74764	0.3759	.	.	.	0.09310	N	0.999995	B	0.21071	0.051	B	0.16722	0.016	T	0.65672	-0.6111	8	0.87932	D	0	.	6.4112	0.21692	0.1494:0.0:0.703:0.1476	.	1335	O15061	SYNEM_HUMAN	K	1334	ENSP00000336775:E1334K	ENSP00000336775:E1334K	E	+	1	0	SYNM	97490091	0.010000	0.17322	0.002000	0.10522	0.014000	0.08584	1.816000	0.38992	0.667000	0.31107	0.655000	0.94253	GAA	-	NULL		0.567	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	protein_coding		G	NM_145728	-		99672568	1	no_errors	ENST00000336292	ensembl	human	known	74_37	missense	SNP	0.005	A	A	99672568	G	A	99672568	3	1	112	1	0	0	0	0	1	0	0	0	15462	1175	41	2	4016	2	SYNM	15	99672568	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4726795	99672568	2858824	819	8314											
LRRC28	123355	genome.wustl.edu	37	chr15	99892629	99892629	+	Silent	SNP	G	G	A													gtggataacaacattcacctGaaaggcttgccatcttatct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:99892629G>A	ENST00000301981.3	+	7	888	c.648G>A	c.(646-648)ctG>ctA	p.L216L	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Silent_p.L147L|LRRC28_ENST00000447360.2_Silent_p.L216L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	216										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			ACATTCACCTGAAAGGCTTGC	0.378																																																	0								ENSG00000168904						169	155	160					15																	99892629		2197	4297	6494	LRRC28	SO:0001819	synonymous_variant	0			-	HGNC	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.648G>A	15.37:g.99892629G>A		Somatic	0	126	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	59	35.16	A8KA22|Q6UY49|Q6ZSS6	Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L216	ENST00000301981.3	37	c.648	CCDS10380.1	15																																																																																			-	NULL		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	protein_coding	OTTHUMT00000313546.1	G	NM_144598	-		99892629	1	no_errors	ENST00000301981	ensembl	human	known	74_37	silent	SNP	1.000	A	A	99892629	G	A	99892629	2	1	112	1	0	0	0	0	0	0	0	1	8984	1277	45	2		2	LRRC28	15	99892629	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	220061	99892629	2638763	820	8315	133	2									
LRRC28	123355	genome.wustl.edu	37	chr15	99892630	99892630	+	Missense_Mutation	SNP	A	A	C													tggataacaacattcacctgAaaggcttgccatcttatctg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:99892630A>C	ENST00000301981.3	+	7	889	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.K148Q|LRRC28_ENST00000447360.2_Missense_Mutation_p.K217Q	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	217										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATTCACCTGAAAGGCTTGCC	0.378																																																	0								ENSG00000168904						168	154	159					15																	99892630		2197	4297	6494	LRRC28	SO:0001583	missense	0			-	HGNC	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.649A>C	15.37:g.99892630A>C	ENSP00000304923:p.Lys217Gln	Somatic	0	125	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	61	34.41	A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K217Q	ENST00000301981.3	37	c.649	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756418	0.49362	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.32515	2.21;2.21;1.45	5.52	4.39	0.52855	.	0.141429	0.64402	D	0.000008	T	0.42404	0.1201	L	0.54323	1.7	0.80722	D	1	D;D;B	0.67145	0.991;0.996;0.18	P;P;B	0.61874	0.816;0.895;0.095	T	0.20773	-1.0265	10	0.16420	T	0.52	.	10.7686	0.46308	0.9257:0.0:0.0743:0.0	.	148;217;217	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	Q	217;217;148	ENSP00000304923:K217Q;ENSP00000404520:K217Q;ENSP00000398606:K148Q	ENSP00000304923:K217Q	K	+	1	0	LRRC28	97710153	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.935000	0.56560	0.923000	0.37045	0.533000	0.62120	AAA	-	NULL		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	protein_coding	OTTHUMT00000313546.1	A	NM_144598	-		99892630	1	no_errors	ENST00000301981	ensembl	human	known	74_37	missense	SNP	1.000	C	C	99892630	A	C	99892630	3	2	112	1	0	0	0	0	1	0	0	0	8984	247	9	5	671	5	LRRC28	15	99892630	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1	99892630	2638762	821	8316	133	2									
TPSB2	64499	genome.wustl.edu	37	chr16	1279234	1279234	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtgacccagcacggcatCcccgggggggaaggtctctg	15	14	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1279234C>T	ENST00000339687.6	-	0	479				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AGCACGGCATCCCCGGGGGGG	0.682																																																	0								ENSG00000197253						12	14	13					16																	1279234		483	1506	1989	TPSB2			0			-	HGNC	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"tryptase beta II", "tryptase beta III"	191081	"tryptase beta 2"			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279234C>T		Somatic	0	22	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	4	80.00	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Splice_Site	SNP							-	e4-1	ENST00000339687.6	37	c.454-1		16	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000330	0.35320	.	.	ENSG00000197253	ENST00000430512	.	.	.	3.58	-1.35	0.09114	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2783	0.15661	0.0:0.2873:0.4798:0.2329	.	.	.	.	.	-1	.	.	.	-	.	.	TPSB2	1219235	0.000000	0.05858	0.065000	0.19835	0.071000	0.16799	-0.369000	0.07533	0.130000	0.18549	0.455000	0.32223	.	-	-		0.682	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	polymorphic_pseudogene	OTTHUMT00000342364.1	C	NM_024164	-		1279234	-1	no_errors	ENST00000430512	ensembl	human	known	74_37	splice_site	SNP	0.005	T	T	1279234	C	T	1279234	1	4	112	0	1	0	0	0	0	0	0	0	16431	855	30	2		2	TPSB2	16	1279234	RNA	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		1279234	89075519	822	8317											
TPSAB1	7177	genome.wustl.edu	37	chr16	1291582	1291582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcgccctgctggagctGgaggagccggtgaacgtctc	15	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1291582G>A	ENST00000338844.3	+	4	414	c.381G>A	c.(379-381)ctG>ctA	p.L127L	TPSAB1_ENST00000461509.2_Silent_p.L134L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCTGGAGCTGGAGGAGCCGG	0.662																																																	0								ENSG00000172236						15	12	13					16																	1291582		2170	4254	6424	TPSAB1	SO:0001819	synonymous_variant	0			-	HGNC	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.381G>A	16.37:g.1291582G>A		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L127	ENST00000338844.3	37	c.381	CCDS10431.1	16																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.662	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	protein_coding	OTTHUMT00000206914.1	G	NM_003294	-		1291582	1	no_errors	ENST00000338844	ensembl	human	known	74_37	silent	SNP	0.003	A	A	1291582	G	A	1291582	2	1	112	1	0	0	0	0	0	0	0	1	16430	1335	47	2		2	TPSAB1	16	1291582	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	12348	1291582	89063171	823	8318											
BAIAP3	8938	genome.wustl.edu	37	chr16	1390933	1390933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacaggtgtttggcaCcagccttgaggagcacactg	11	14	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1390933C>T	ENST00000324385.5	+	6	682	c.524C>T	c.(523-525)aCc>aTc	p.T175I	BAIAP3_ENST00000568887.1_Missense_Mutation_p.T112I|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T117I|BAIAP3_ENST00000426824.3_Missense_Mutation_p.T140I|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T140I|BAIAP3_ENST00000397488.2_Missense_Mutation_p.T157I|BAIAP3_ENST00000397489.1_Missense_Mutation_p.T157I	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	175					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTGTTTGGCACCAGCCTTGAG	0.672																																																	0								ENSG00000007516						41	33	36					16																	1390933		2171	4273	6444	BAIAP3	SO:0001583	missense	0			-	HGNC	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.524C>T	16.37:g.1390933C>T	ENSP00000324510:p.Thr175Ile	Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	57	32.94	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP							pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T175I	ENST00000324385.5	37	c.524	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	3.502	-0.101646	0.06967	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.70631	-0.47;-0.5;-0.48;-0.5;-0.47	4.74	1.09	0.20402	C2 calcium/lipid-binding domain, CaLB (1);	0.413688	0.24481	N	0.038157	T	0.54759	0.1878	L	0.47716	1.5	0.09310	N	0.999991	B;B;B;B;B	0.16166	0.0;0.016;0.0;0.001;0.0	B;B;B;B;B	0.12156	0.002;0.007;0.001;0.001;0.002	T	0.30794	-0.9966	10	0.23302	T	0.38	-33.063	4.304	0.10938	0.1794:0.5757:0.0:0.2449	.	140;192;117;175;157	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	I	140;157;175;157;140	ENSP00000407242:T140I;ENSP00000380625:T157I;ENSP00000324510:T175I;ENSP00000380626:T157I;ENSP00000409533:T140I	ENSP00000324510:T175I	T	+	2	0	BAIAP3	1330934	0.516000	0.26218	0.040000	0.18447	0.005000	0.04900	0.237000	0.17985	0.513000	0.28278	-0.518000	0.04402	ACC	-	superfamily_C2_dom		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	protein_coding	OTTHUMT00000109056.3	C		-		1390933	1	no_errors	ENST00000324385	ensembl	human	known	74_37	missense	SNP	0.333	T	T	1390933	C	T	1390933	3	4	112	1	0	0	0	0	1	0	0	0	1304	507	18	2	546	2	BAIAP3	16	1390933	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	99351	1390933	88963820	824	8319											
DCI	1632	genome.wustl.edu	37	chr16	2296868	2296868	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actagcacctaccgaggtcaGaatgacaccgcggaagctct	10	13	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:2296868G>A	ENST00000301729.4	-	3	333	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ECI1_ENST00000570258.1_Silent_p.L37L|ECI1_ENST00000562238.1_Silent_p.L96L	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	96					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)	p.L96L(1)		endometrium(1)|large_intestine(2)|lung(6)	9						ACCGAGGTCAGAATGACACCG	0.572																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000167969						81	77	78					16																	2296868		2198	4300	6498	ECI1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.286C>T	16.37:g.2296868G>A		Somatic	0	125	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	73	25.51	A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP							pfam_Crotonase_core_superfam	p.L96	ENST00000301729.4	37	c.286	CCDS10464.1	16																																																																																			-	pfam_Crotonase_core_superfam		0.572	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	protein_coding	OTTHUMT00000250768.1	G		-		2296868	-1	no_errors	ENST00000301729	ensembl	human	known	74_37	silent	SNP	0.002	A	A	2296868	G	A	2296868	2	1	112	1	0	0	0	0	0	0	0	1	4291	933	33	2		2	DCI	16	2296868	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	905935	2296868	88057885	825	8320											
TIGD7	91151	genome.wustl.edu	37	chr16	3350197	3350197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggacttgttccccacatcCttttcggttcccaattgcat	6	13	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:3350197C>T	ENST00000396862.1	-	2	2246	c.418G>A	c.(418-420)Gga>Aga	p.G140R	TIGD7_ENST00000268674.2_Missense_Mutation_p.G140R|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	140						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCCCCACATCCTTTTCGGTTC	0.423																																																	0								ENSG00000140993						122	119	120					16																	3350197		2197	4300	6497	TIGD7	SO:0001583	missense	0			-	HGNC	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.418G>A	16.37:g.3350197C>T	ENSP00000380071:p.Gly140Arg	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	59	35.16	Q9BXZ0	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G140R	ENST00000396862.1	37	c.418	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804556	0.31869	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.28895	1.59;1.59	5.22	4.27	0.50696	.	0.258319	0.20003	U	0.101290	T	0.15349	0.0370	N	0.08118	0	0.24784	N	0.992791	B	0.22604	0.072	B	0.21708	0.036	T	0.20174	-1.0283	10	0.23302	T	0.38	.	9.7604	0.40528	0.0:0.9041:0.0:0.0959	.	140	Q6NT04	TIGD7_HUMAN	R	140	ENSP00000380071:G140R;ENSP00000268674:G140R	ENSP00000268674:G140R	G	-	1	0	TIGD7	3290198	0.462000	0.25791	0.999000	0.59377	0.969000	0.65631	0.215000	0.17562	1.203000	0.43233	0.655000	0.94253	GGA	-	pfam_HTH_CenpB_DNA-bd_dom		0.423	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	protein_coding	OTTHUMT00000251465.1	C	NM_033208	-		3350197	-1	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	SNP	0.993	T	T	3350197	C	T	3350197	3	4	112	1	0	0	0	0	1	0	0	0	15908	690	24	2	1235	2	TIGD7	16	3350197	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1053329	3350197	87004556	826	8321											
SEC14L5	9717	genome.wustl.edu	37	chr16	5053431	5053431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctgctagacctggagGgactcaacatgcggcacctg	12	14	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:5053431G>A	ENST00000251170.7	+	11	1339	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	387	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGACCTGGAGGGACTCAACAT	0.642																																																	0								ENSG00000103184						41	48	46					16																	5053431		1936	4142	6078	SEC14L5	SO:0001583	missense	0			-	HGNC	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1159G>A	16.37:g.5053431G>A	ENSP00000251170:p.Gly387Arg	Somatic	0	123	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	87	38.46		Missense_Mutation	SNP							pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.G387R	ENST00000251170.7	37	c.1159	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788268	0.90367	.	.	ENSG00000103184	ENST00000251170	T	0.69926	-0.44	4.5	4.5	0.54988	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90470	0.4452	10	0.87932	D	0	-22.3211	17.3879	0.87422	0.0:0.0:1.0:0.0	.	387	O43304	S14L5_HUMAN	R	387	ENSP00000251170:G387R	ENSP00000251170:G387R	G	+	1	0	SEC14L5	4993432	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.920000	0.92779	2.341000	0.79615	0.555000	0.69702	GGA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	protein_coding	OTTHUMT00000434379.1	G		-		5053431	1	no_errors	ENST00000251170	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5053431	G	A	5053431	3	1	112	1	0	0	0	0	1	0	0	0	13993	1233	43	2	1197	2	SEC14L5	16	5053431	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1703234	5053431	85301322	827	8322											
GRIN2A	2903	genome.wustl.edu	37	chr16	9916278	9916278	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaatagtcatgaggtctctGaaactggagagagaacgaga	14	5	2	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:9916278G>T	ENST00000396573.2	-	11	2320	c.2011C>A	c.(2011-2013)Cag>Aag	p.Q671K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q671K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q514K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q671K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q671K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q671K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	671					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAGGTCTCTGAAACTGgaga	0.428																																																	0								ENSG00000183454						73	64	67					16																	9916278		2197	4300	6497	GRIN2A	SO:0001583	missense	0			-	HGNC		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2011C>A	16.37:g.9916278G>T	ENSP00000379818:p.Gln671Lys	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	57	29.27	O00669|Q17RZ6	Missense_Mutation	SNP							pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q671K	ENST00000396573.2	37	c.2011	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.165918	0.94768	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.86420	2.815	0.80722	D	1	P;P;D	0.56746	0.602;0.654;0.977	P;P;D	0.72075	0.619;0.806;0.976	T	0.79172	-0.1913	9	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	514;671;671	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	671;671;514;671;671	ENSP00000379818:Q671K;ENSP00000385872:Q671K;ENSP00000441572:Q514K;ENSP00000332549:Q671K;ENSP00000379820:Q671K	.	Q	-	1	0	GRIN2A	9823779	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.695000	0.98691	2.655000	0.90218	0.655000	0.94253	CAG	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	G		-		9916278	-1	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	SNP	1.000	T	T	9916278	G	T	9916278	3	4	112	1	0	0	0	0	1	0	0	0	6781	1299	45	3	2399	3	GRIN2A	16	9916278	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4862847	9916278	80438475	828	8323											
CLEC16A	23274	genome.wustl.edu	37	chr16	11217640	11217640	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggacgacagccgtgccctGaacatcaccatccacaagcc	9	16	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:11217640G>A	ENST00000409790.1	+	21	2540	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	CLEC16A_ENST00000409552.3_Silent_p.L752L|CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCGTGCCCTGAACATCACCA	0.587																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000038532						80	89	86					16																	11217640		2150	4248	6398	CLEC16A	SO:0001819	synonymous_variant	0			-	HGNC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2310G>A	16.37:g.11217640G>A		Somatic	0	21	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10		Silent	SNP							pfam_Uncharacterised_FPL	p.L770	ENST00000409790.1	37	c.2310	CCDS45409.1	16																																																																																			-	NULL		0.587	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	protein_coding	OTTHUMT00000328540.2	G	NM_015226	-		11217640	1	no_errors	ENST00000409790	ensembl	human	known	74_37	silent	SNP	1.000	A	A	11217640	G	A	11217640	2	1	112	1	0	0	0	0	0	0	0	1	3502	1277	45	2		2	CLEC16A	16	11217640	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1301362	11217640	79137113	829	8324											
ACSM2B	348158	genome.wustl.edu	37	chr16	20566767	20566767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacagtatgtcagtggatttCatctggatggttccaggcat	11	7	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:20566767C>T	ENST00000329697.6	-	4	588	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_ENST00000565232.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M140I|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M61I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	140					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428																																																	0								ENSG00000066813						58	56	57					16																	20566767		2201	4297	6498	ACSM2B	SO:0001583	missense	0			-	HGNC	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.420G>A	16.37:g.20566767C>T	ENSP00000327453:p.Met140Ile	Somatic	0	107	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	55	34.52	Q86YT1	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.M140I	ENST00000329697.6	37	c.420	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559395	0.27827	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.39056	1.1;1.1	3.02	3.02	0.34903	AMP-dependent synthetase/ligase (1);	0.127393	0.35870	N	0.002934	T	0.32133	0.0819	L	0.31752	0.955	0.28891	N	0.893827	B;B	0.26483	0.15;0.15	B;B	0.34385	0.181;0.181	T	0.35126	-0.9801	10	0.87932	D	0	-18.5483	8.1085	0.30900	0.0:0.8738:0.0:0.1262	.	140;140	A8K051;Q68CK6	.;ACS2B_HUMAN	I	140	ENSP00000327453:M140I;ENSP00000390378:M140I	ENSP00000327453:M140I	M	-	3	0	ACSM2B	20474268	1.000000	0.71417	0.968000	0.41197	0.390000	0.30446	0.654000	0.24918	1.686000	0.51046	0.543000	0.68304	ATG	-	pfam_AMP-dep_Synth/Lig		0.428	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	protein_coding	OTTHUMT00000254417.2	C	NM_182617	-		20566767	-1	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	SNP	0.950	T	T	20566767	C	T	20566767	3	4	112	1	0	0	0	0	1	0	0	0	184	826	29	2	1357	2	ACSM2B	16	20566767	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	9349127	20566767	69787986	830	8325											
LYRM1	57149	genome.wustl.edu	37	chr16	20935434	20935434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatctcatgatgaagtttCctaatctagaggaaagttta	8	6	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:20935434C>T	ENST00000396052.2	+	6	765	c.365C>T	c.(364-366)tCc>tTc	p.S122F	LYRM1_ENST00000568663.1_Missense_Mutation_p.S122F|LYRM1_ENST00000439021.1_Missense_Mutation_p.S122F|LYRM1_ENST00000412082.2_Missense_Mutation_p.S33F|LYRM1_ENST00000219168.4_Missense_Mutation_p.S122F|LYRM1_ENST00000562740.1_Missense_Mutation_p.S33F|LYRM1_ENST00000569023.1_Missense_Mutation_p.S122F|LYRM1_ENST00000567954.1_Missense_Mutation_p.S122F			O43325	LYRM1_HUMAN	LYR motif containing 1	122						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|prostate(1)	2						GATGAAGTTTCCTAATCTAGA	0.418																																																	0								ENSG00000102897						42	42	42					16																	20935434		2201	4300	6501	LYRM1	SO:0001583	missense	0			-	HGNC		CCDS10593.1	16p12.2	2008-02-05			ENSG00000102897	ENSG00000102897		"LYR motif containing"	25074	protein-coding gene	gene with protein product		614709				10493829	Standard	NM_020424		Approved	A211C6.1	uc010bwl.3	O43325	OTTHUMG00000131554	ENST00000396052.2:c.365C>T	16.37:g.20935434C>T	ENSP00000379367:p.Ser122Phe	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	30	50.82	B2R4M5	Missense_Mutation	SNP							pfam_Complex1_LYR	p.S122F	ENST00000396052.2	37	c.365	CCDS10593.1	16	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976869	0.53720	.	.	ENSG00000102897	ENST00000439021;ENST00000219168;ENST00000412082;ENST00000396052	.	.	.	5.85	3.88	0.44766	.	0.085474	0.51477	D	0.000100	T	0.54951	0.1890	L	0.60455	1.87	0.46222	D	0.998936	P	0.44627	0.839	B	0.41723	0.365	T	0.62923	-0.6751	9	0.87932	D	0	-10.2682	12.9994	0.58666	0.0:0.8675:0.0:0.1325	.	122	O43325	LYRM1_HUMAN	F	122	.	ENSP00000219168:S122F	S	+	2	0	LYRM1	20842935	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.115000	0.50391	1.477000	0.48234	0.655000	0.94253	TCC	-	NULL		0.418	LYRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYRM1	protein_coding	OTTHUMT00000254416.1	C	NM_020424	-		20935434	1	no_errors	ENST00000219168	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20935434	C	T	20935434	3	4	112	1	0	0	0	0	1	0	0	0	9121	855	30	2	375	2	LYRM1	16	20935434	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	368667	20935434	69419319	831	8326											
VWA3A	146177	genome.wustl.edu	37	chr16	22149817	22149817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccaggcccaccgtccCcctgggggccagaatggttt	11	18	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:22149817C>T	ENST00000389398.5	+	22	2372	c.2276C>T	c.(2275-2277)cCc>cTc	p.P759L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	759						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCACCGTCCCCCTGGGGGCC	0.522																																																	0								ENSG00000175267						44	49	47					16																	22149817		1907	4121	6028	VWA3A	SO:0001583	missense	0			-	HGNC	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2276C>T	16.37:g.22149817C>T	ENSP00000374049:p.Pro759Leu	Somatic	0	128	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	77	44.68	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP							pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P759L	ENST00000389398.5	37	c.2276	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.279178	0.00254	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09723	2.95	5.18	0.335	0.15953	.	0.291697	0.33023	N	0.005362	T	0.04588	0.0125	L	0.32530	0.975	0.25906	N	0.983299	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.39035	-0.9633	10	0.02654	T	1	.	0.4795	0.00545	0.188:0.342:0.1842:0.2858	.	759;383	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	L	759;382	ENSP00000374049:P759L	ENSP00000299840:P382L	P	+	2	0	VWA3A	22057318	0.006000	0.16342	0.039000	0.18376	0.001000	0.01503	1.056000	0.30480	0.280000	0.22209	-0.310000	0.09108	CCC	-	NULL		0.522	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	protein_coding	OTTHUMT00000430052.1	C		-		22149817	1	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	SNP	0.262	T	T	22149817	C	T	22149817	3	4	112	1	0	0	0	0	1	0	0	0	17247	623	22	2	2362	2	VWA3A	16	22149817	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1214383	22149817	68204936	832	8327											
SCNN1G	6340	genome.wustl.edu	37	chr16	23197733	23197733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgccgcatcgtggtgtcCcgcggccgtctgcgccgcct	14	17	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23197733C>T	ENST00000300061.2	+	2	284	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	47					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCGTGGTGTCCCGCGGCCGTC	0.637																																																	0								ENSG00000166828						60	56	58					16																	23197733		2197	4300	6497	SCNN1G	SO:0001819	synonymous_variant	0			-	HGNC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.141C>T	16.37:g.23197733C>T		Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S47	ENST00000300061.2	37	c.141	CCDS10608.1	16																																																																																			-	pfam_Na+channel_ASC,tigrfam_EnaC		0.637	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	protein_coding	OTTHUMT00000254496.1	C	NM_001039	-		23197733	1	no_errors	ENST00000300061	ensembl	human	known	74_37	silent	SNP	0.998	T	T	23197733	C	T	23197733	2	4	112	1	0	0	0	0	0	0	0	1	13938	610	22	2		2	SCNN1G	16	23197733	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1047916	23197733	67157020	833	8328											
SCNN1B	6338	genome.wustl.edu	37	chr16	23382662	23382662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaggaagactacgtccCcttccttgcgtccacggccg	11	16	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23382662C>T	ENST00000343070.2	+	6	1099	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P308L|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P353L|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P281L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	308					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACTACGTCCCCTTCCTTGCG	0.597																																																	0								ENSG00000168447						98	71	80					16																	23382662		2197	4300	6497	SCNN1B	SO:0001583	missense	0			-	HGNC	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.923C>T	16.37:g.23382662C>T	ENSP00000345751:p.Pro308Leu	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.P353L	ENST00000343070.2	37	c.1058	CCDS10609.1	16	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859296	0.71834	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.63744	-0.06;-0.06	5.01	3.97	0.46021	.	0.079070	0.53938	D	0.000053	T	0.81384	0.4811	M	0.90019	3.08	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	D	0.86084	0.1546	10	0.87932	D	0	-18.2147	15.2235	0.73333	0.1501:0.8498:0.0:0.0	.	308	P51168	SCNNB_HUMAN	L	308;353	ENSP00000345751:P308L;ENSP00000302874:P353L	ENSP00000302874:P353L	P	+	2	0	SCNN1B	23290163	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.137000	0.50562	2.327000	0.79052	0.655000	0.94253	CCC	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.597	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	protein_coding	OTTHUMT00000254495.2	C		-		23382662	1	no_errors	ENST00000307331	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23382662	C	T	23382662	3	4	112	1	0	0	0	0	1	0	0	0	13936	623	22	2	941	2	SCNN1B	16	23382662	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	184929	23382662	66972091	834	8329											
COG7	91949	genome.wustl.edu	37	chr16	23457242	23457242	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttagggcttcaacatcacgGagcactttgggcatgttctg	11	9	3	0	rs543986842		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23457242G>A	ENST00000307149.5	-	2	395	c.210C>T	c.(208-210)ctC>ctT	p.L70L	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	70					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAACATCACGGAGCACTTTGG	0.383																																																	0								ENSG00000168434						115	102	107					16																	23457242		2197	4300	6497	COG7	SO:0001819	synonymous_variant	0			-	HGNC	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.210C>T	16.37:g.23457242G>A		Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	47	33.80	Q6UWU7	Silent	SNP							pfam_COG7	p.L70	ENST00000307149.5	37	c.210	CCDS10610.1	16																																																																																			-	pfam_COG7		0.383	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	protein_coding	OTTHUMT00000211625.1	G		-		23457242	-1	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	SNP	0.972	A	A	23457242	G	A	23457242	2	1	112	1	0	0	0	0	0	0	0	1	3665	1161	41	2		2	COG7	16	23457242	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	74580	23457242	66897511	835	8330											
PALB2	79728	genome.wustl.edu	37	chr16	23641698	23641698	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcagcattccatccctatGaaatggagccgtgaaagcat	8	11	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23641698G>A	ENST00000261584.4	-	5	1929	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	593					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCATCCCTATGAAATGGAGCC	0.383			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0								ENSG00000083093						62	55	57					16																	23641698		2197	4300	6497	PALB2	SO:0001583	missense	0			-	HGNC		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1777C>T	16.37:g.23641698G>A	ENSP00000261584:p.His593Tyr	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP							superfamily_WD40_repeat_dom	p.H593Y	ENST00000261584.4	37	c.1777	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060889	0.19987	.	.	ENSG00000083093	ENST00000261584	T	0.16196	2.36	5.52	1.06	0.20224	.	1.242740	0.05465	N	0.551915	T	0.13500	0.0327	L	0.50333	1.59	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.37549	-0.9701	10	0.02654	T	1	4.0096	5.4624	0.16624	0.2426:0.0:0.6192:0.1381	.	593	Q86YC2	PALB2_HUMAN	Y	593	ENSP00000261584:H593Y	ENSP00000261584:H593Y	H	-	1	0	PALB2	23549199	0.002000	0.14202	0.000000	0.03702	0.026000	0.11368	0.158000	0.16422	-0.030000	0.13804	0.655000	0.94253	CAT	-	NULL		0.383	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	protein_coding	OTTHUMT00000435287.2	G	NM_024675	-		23641698	-1	no_errors	ENST00000261584	ensembl	human	known	74_37	missense	SNP	0.015	A	A	23641698	G	A	23641698	3	1	112	1	0	0	0	0	1	0	0	0	11408	1290	45	2	1819	2	PALB2	16	23641698	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	184456	23641698	66713055	836	8331											
ERN2	10595	genome.wustl.edu	37	chr16	23721500	23721500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgggatacaaaccattaatCcctgttgtttttgggtcccc	8	10	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23721500C>T	ENST00000457008.2	-	4	337	c.299G>A	c.(298-300)gGa>gAa	p.G100E	ERN2_ENST00000256797.4_Missense_Mutation_p.G148E|CTD-2385L22.1_ENST00000563611.1_RNA					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AACCATTAATCCCTGTTGTTT	0.522																																																	0								ENSG00000134398						94	79	84					16																	23721500		2197	4300	6497	ERN2	SO:0001583	missense	0			-	HGNC	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.299G>A	16.37:g.23721500C>T	ENSP00000413812:p.Gly100Glu	Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	59	23.38		Missense_Mutation	SNP							pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.G148E	ENST00000457008.2	37	c.443		16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032177	0.75504	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	.	0.103073	0.64402	D	0.000003	T	0.72439	0.3460	M	0.71206	2.165	0.53688	D	0.999978	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.959	T	0.74685	-0.3582	10	0.72032	D	0.01	.	17.0563	0.86534	0.0:1.0:0.0:0.0	.	100;100	E7ETG2;A5YM65	.;.	E	148;100	ENSP00000256797:G148E;ENSP00000413812:G100E	ENSP00000256797:G148E	G	-	2	0	ERN2	23629001	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.025000	0.64097	2.620000	0.88729	0.563000	0.77884	GGA	-	superfamily_Quinonprotein_ADH-like_supfam		0.522	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	protein_coding	OTTHUMT00000434886.1	C		-		23721500	-1	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23721500	C	T	23721500	3	4	112	1	0	0	0	0	1	0	0	0	5240	855	30	2	2557	2	ERN2	16	23721500	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	79802	23721500	66633253	837	8332											
PRKCB	5579	genome.wustl.edu	37	chr16	24226094	24226094	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagaattcgaaggattttCctttgttaactctgaatttt	6	6	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:24226094C>T	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Missense_Mutation_p.S660F	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAAGGATTTTCCTTTGTTAAC	0.428																																																	0								ENSG00000166501						94	95	95					16																	24226094		2197	4300	6497	PRKCB	SO:0001627	intron_variant	0			-	HGNC	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5188C>T	16.37:g.24226094C>T		Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.S660F	ENST00000321728.7	37	c.1979	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335785	0.81801	.	.	ENSG00000166501	ENST00000303531	T	0.63744	-0.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.81693	-0.0817	9	0.87932	D	0	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	660	P05771-2	.	F	660	ENSP00000305355:S660F	ENSP00000305355:S660F	S	+	2	0	PRKCB	24133595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	TCC	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g		0.428	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	protein_coding	OTTHUMT00000254504.2	C	NM_212535	-		24226094	1	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24226094	C	T	24226094	1	4	112	0	1	0	0	0	0	0	0	0	12513	855	30	2		2	PRKCB	16	24226094	Intron	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	504594	24226094	66128659	838	8333											
CLN3	1201	genome.wustl.edu	37	chr16	28502882	28502882	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggacggtctcctcccCtgggagagcgagaagagggc	16	13	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:28502882C>T	ENST00000569430.1	-	4	866		c.e4-1		CLN3_ENST00000357857.9_Intron|CLN3_ENST00000354630.5_Splice_Site|CLN3_ENST00000359984.7_Splice_Site|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000567963.1_Splice_Site|CLN3_ENST00000355477.5_Splice_Site|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000565316.1_Splice_Site|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000333496.9_Splice_Site|CLN3_ENST00000360019.2_Splice_Site|CLN3_ENST00000357076.5_Splice_Site|CLN3_ENST00000357806.7_Splice_Site			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3						action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTCTCCTCCCCTGGGAGAGCG	0.657											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000188603						27	29	28					16																	28502882		2197	4300	6497	CLN3	SO:0001630	splice_region_variant	0			-	HGNC	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.47-1G>A	16.37:g.28502882C>T		Somatic	0	56	0	802	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	33	47.69	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Splice_Site	SNP							-	e2-1	ENST00000569430.1	37	c.47-1	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169423	0.57584	.	.	ENSG00000188603	ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000333496;ENST00000357806;ENST00000357076	.	.	.	5.33	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1595	0.42842	0.0:0.9079:0.0:0.0921	.	.	.	.	.	-1	.	.	.	-	.	.	CLN3	28410383	0.991000	0.36638	0.972000	0.41901	0.629000	0.37895	3.469000	0.53093	1.421000	0.47157	0.651000	0.88453	.	-	-		0.657	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	protein_coding	OTTHUMT00000214115.2	C		-	Intron	28502882	-1	no_errors	ENST00000359984	ensembl	human	known	74_37	splice_site	SNP	0.991	T	T	28502882	C	T	28502882	5	4	112	1	0	0	0	0	0	0	1	0	3545	695	24	2	1326	2	CLN3	16	28502882	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4276788	28502882	61851871	839	8334											
MAPK3	5595	genome.wustl.edu	37	chr16	30129061	30129061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttagagagcatctcagcCagaatgcagcccacagacca	10	13	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:30129061C>T	ENST00000263025.4	-	5	789	c.705G>A	c.(703-705)ctG>ctA	p.L235L	MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000395200.1_Silent_p.L167L|MAPK3_ENST00000395202.1_Silent_p.L235L|MAPK3_ENST00000322266.5_Silent_p.L235L|MAPK3_ENST00000403394.1_Silent_p.L235L|MAPK3_ENST00000395199.3_Silent_p.L235L|MAPK3_ENST00000484663.1_Silent_p.L121L	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	235	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)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|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 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 exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|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)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GCATCTCAGCCAGAATGCAGC	0.602																																																	0								ENSG00000102882						119	116	117					16																	30129061		2197	4300	6497	MAPK3	SO:0001819	synonymous_variant	0			-	HGNC	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.705G>A	16.37:g.30129061C>T		Somatic	0	39	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	A8CZ58|B0LPG3|Q8NHX1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.L235	ENST00000263025.4	37	c.705	CCDS10672.1	16	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182800	0.21870	.	.	ENSG00000102882	ENST00000495629	.	.	.	5.97	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.3064	6.0439	0.19750	0.131:0.6477:0.1419:0.0793	.	.	.	.	X	196	.	.	W	-	2	0	MAPK3	30036562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.069000	0.41481	2.837000	0.97791	0.655000	0.94253	TGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	protein_coding	OTTHUMT00000255196.2	C		-		30129061	-1	no_errors	ENST00000263025	ensembl	human	known	74_37	silent	SNP	1.000	T	T	30129061	C	T	30129061	2	4	112	1	0	0	0	0	0	0	0	1	9281	581	21	2		2	MAPK3	16	30129061	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1626179	30129061	60225692	840	8335											
ITGAD	3681	genome.wustl.edu	37	chr16	31434740	31434740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcctgtcctgctgaacgGggtggctgtgtgggatgtgg	19	7	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:31434740G>A	ENST00000389202.2	+	25	2976	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	976					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGCTGAACGGGGTGGCTGTG	0.537																																																	0								ENSG00000156886						195	168	177					16																	31434740		2197	4300	6497	ITGAD	SO:0001583	missense	0			-	HGNC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2927G>A	16.37:g.31434740G>A	ENSP00000373854:p.Gly976Glu	Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	40.00	Q15575|Q15576	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G976E	ENST00000389202.2	37	c.2927	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281291	0.01398	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.55930	0.49	5.39	3.41	0.39046	Integrin alpha-2 (1);	.	.	.	.	T	0.37517	0.1006	L	0.38175	1.15	0.09310	N	1	B;B	0.28026	0.198;0.198	B;B	0.28011	0.085;0.085	T	0.22556	-1.0213	9	0.08599	T	0.76	.	8.5729	0.33581	0.1826:0.0:0.8174:0.0	.	992;976	Q59H14;Q13349	.;ITAD_HUMAN	E	992;976	ENSP00000373854:G976E	ENSP00000373854:G976E	G	+	2	0	ITGAD	31342241	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	1.907000	0.39897	1.260000	0.44134	0.650000	0.86243	GGG	-	pfam_Integrin_alpha-2		0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	G	NM_005353	-		31434740	1	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	SNP	0.001	A	A	31434740	G	A	31434740	3	1	112	1	0	0	0	0	1	0	0	0	7886	1232	43	2	3025	2	ITGAD	16	31434740	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1305679	31434740	58920013	841	8336											
MYLK3	91807	genome.wustl.edu	37	chr16	46781685	46781685	+	Missense_Mutation	SNP	G	G	A													gggcacacgcccctgcatgaGgaaatccgccacctttgatt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:46781685G>A	ENST00000394809.4	-	1	536	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	141					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCCTGCATGAGGAAATCCGCC	0.662																																																	0								ENSG00000140795						60	60	60					16																	46781685		2203	4300	6503	MYLK3	SO:0001583	missense	0			-	HGNC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.421C>T	16.37:g.46781685G>A	ENSP00000378288:p.Leu141Phe	Somatic	0	80	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	58	33.33	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L141F	ENST00000394809.4	37	c.421	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930873	0.18131	.	.	ENSG00000140795	ENST00000394809	T	0.70164	-0.46	4.87	-0.46	0.12175	.	0.218384	0.23201	N	0.050786	T	0.44393	0.1291	N	0.22421	0.69	0.80722	D	1	P	0.38922	0.651	B	0.32805	0.153	T	0.23976	-1.0173	10	0.72032	D	0.01	.	8.2112	0.31483	0.0:0.0716:0.4063:0.5221	.	141	Q32MK0	MYLK3_HUMAN	F	141	ENSP00000378288:L141F	ENSP00000378288:L141F	L	-	1	0	MYLK3	45339186	1.000000	0.71417	0.510000	0.27712	0.041000	0.13682	1.812000	0.38952	-0.307000	0.08804	-0.500000	0.04577	CTC	-	NULL		0.662	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	protein_coding	OTTHUMT00000255743.2	G	NM_182493	-		46781685	-1	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	SNP	0.995	A	A	46781685	G	A	46781685	3	1	112	1	0	0	0	0	1	0	0	0	10060	1000	35	2	2090	2	MYLK3	16	46781685	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	15346945	46781685	43573068	842	8337	134	2									
MYLK3	91807	genome.wustl.edu	37	chr16	46781686	46781686	+	Silent	SNP	G	G	A													ggcacacgcccctgcatgagGaaatccgccacctttgattt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:46781686G>A	ENST00000394809.4	-	1	535	c.420C>T	c.(418-420)ttC>ttT	p.F140F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	140					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTGCATGAGGAAATCCGCCA	0.657																																																	0								ENSG00000140795						60	59	60					16																	46781686		2203	4300	6503	MYLK3	SO:0001819	synonymous_variant	0			-	HGNC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.420C>T	16.37:g.46781686G>A		Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	56	33.72	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F140	ENST00000394809.4	37	c.420	CCDS10723.2	16																																																																																			-	NULL		0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	protein_coding	OTTHUMT00000255743.2	G	NM_182493	-		46781686	-1	no_errors	ENST00000394809	ensembl	human	known	74_37	silent	SNP	0.998	A	A	46781686	G	A	46781686	2	1	112	1	0	0	0	0	0	0	0	1	10060	1165	41	2		2	MYLK3	16	46781686	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	46781686	43573067	843	8338	134	2									
ABCC12	94160	genome.wustl.edu	37	chr16	48173107	48173107	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatatgacatacactgatatCccgatgagagctgtgggccc	10	10	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:48173107C>T	ENST00000311303.3	-	5	1143	c.798G>A	c.(796-798)ggG>ggA	p.G266G	ABCC12_ENST00000448542.1_Silent_p.G266G|ABCC12_ENST00000416054.1_Silent_p.G266G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	266	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACACTGATATCCCGATGAGAG	0.483																																																	0								ENSG00000140798						132	120	124					16																	48173107		2201	4300	6501	ABCC12	SO:0001819	synonymous_variant	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.798G>A	16.37:g.48173107C>T		Somatic	0	93	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	60	21.05	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G266	ENST00000311303.3	37	c.798	CCDS10730.1	16																																																																																			-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48173107	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	SNP	0.967	T	T	48173107	C	T	48173107	2	4	112	1	0	0	0	0	0	0	0	1	52	842	30	2		2	ABCC12	16	48173107	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1391421	48173107	42181646	844	8339											
SALL1	6299	genome.wustl.edu	37	chr16	51171431	51171431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgaccccgtcgtgcaggGgtgctattccacatgtgagt	13	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:51171431G>A	ENST00000251020.4	-	3	3600	c.3567C>T	c.(3565-3567)acC>acT	p.T1189T	SALL1_ENST00000440970.1_Silent_p.T1092T|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.T12T	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1189					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)			GTCGTGCAGGGGTGCTATTCC	0.547																																					GBM(103;1352 1446 1855 4775 8890)												0								ENSG00000103449						33	33	33					16																	51171431		2198	4300	6498	SALL1	SO:0001819	synonymous_variant	0			-	HGNC	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.3567C>T	16.37:g.51171431G>A		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	Q99881|Q9NSC3|Q9P1R0	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1189	ENST00000251020.4	37	c.3567	CCDS10747.1	16																																																																																			-	pfscan_Znf_C2H2		0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	G	NM_002968	-		51171431	-1	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	SNP	0.998	A	A	51171431	G	A	51171431	2	1	112	1	0	0	0	0	0	0	0	1	13818	1219	43	2		2	SALL1	16	51171431	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2998324	51171431	39183322	845	8340											
IRX5	10265	genome.wustl.edu	37	chr16	54965327	54965329	+	In_Frame_Del	DEL	GCC	GCC	-													agtacggcgccgaccccgcgGccgccgccgccgccgccttc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:54965327_54965329delGCC	ENST00000394636.4	+	1	554_556	c.217_219delGCC	c.(217-219)gccdel	p.A78del	IRX5_ENST00000558597.1_5'Flank|IRX5_ENST00000560154.1_In_Frame_Del_p.A78del|CRNDE_ENST00000560208.1_lincRNA|IRX5_ENST00000320990.5_In_Frame_Del_p.A78del			P78411	IRX5_HUMAN	iroquois homeobox 5	78	Poly-Ala.				embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						cgaccccgcggccgccgccgccg	0.754																																																	0								ENSG00000176842																																			IRX5	SO:0001651	inframe_deletion	0				HGNC	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.217_219delGCC	16.37:g.54965336_54965338delGCC	ENSP00000378132:p.Ala78del	Somatic	0	24	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	H0YMS7|P78416|Q7Z2E1	In_Frame_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A76in_frame_del	ENST00000394636.4	37	c.217_219	CCDS10751.1	16																																																																																			-	NULL		0.754	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	protein_coding	OTTHUMT00000256911.2	GCC				54965329	1	no_errors	ENST00000394636	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.492	-	-	54965329	GCC	-	54965327	7	5	112	1	0	1	0	1	0	0	0	0	7849	1203	42	0	219	0	IRX5	16	54965327	In_Frame_Del	DEL	GCC	TCGA-DX-AB2E-01A-11D-A38Z-09	3793896	54965327	35389426	846	8341											
CDH8	1006	genome.wustl.edu	37	chr16	61687910	61687910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccctcctccttcatcatCgtagcgaatgatgttttctc	5	15	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:61687910C>T	ENST00000577390.1	-	12	2956	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	CDH8_ENST00000577730.1_Missense_Mutation_p.D668N|CDH8_ENST00000299345.6_Missense_Mutation_p.D668N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	668					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTTCATCATCGTAGCGAATG	0.398																																																	0								ENSG00000150394						125	117	120					16																	61687910		2203	4300	6503	CDH8	SO:0001583	missense	0			-	HGNC	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2002G>A	16.37:g.61687910C>T	ENSP00000462701:p.Asp668Asn	Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	60	32.58	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D668N	ENST00000577390.1	37	c.2002	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347805	0.82022	.	.	ENSG00000150394	ENST00000299345	T	0.77620	-1.11	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.048613	0.85682	N	0.000000	T	0.74366	0.3707	L	0.47016	1.485	0.80722	D	1	B	0.29909	0.261	B	0.32583	0.148	T	0.69213	-0.5204	10	0.23891	T	0.37	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	668	P55286	CADH8_HUMAN	N	668	ENSP00000299345:D668N	ENSP00000299345:D668N	D	-	1	0	CDH8	60245411	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	GAT	-	pfam_Cadherin_cytoplasmic-dom		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	protein_coding	OTTHUMT00000268754.3	C	NM_001796	-		61687910	-1	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61687910	C	T	61687910	3	4	112	1	0	0	0	0	1	0	0	0	3118	884	31	1	401	1	CDH8	16	61687910	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6722583	61687910	28666843	847	8342											
CDH8	1006	genome.wustl.edu	37	chr16	61935302	61935302	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagttacatcatttatttGaaatatggtcccagctccat	5	10	1	1	rs267604590		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:61935302G>A	ENST00000577390.1	-	3	1282	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q110*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATTTATTTGAAATATGGTC	0.418																																																	0								ENSG00000150394						110	106	107					16																	61935302		2203	4300	6503	CDH8	SO:0001587	stop_gained	0			-	HGNC	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.328C>T	16.37:g.61935302G>A	ENSP00000462701:p.Gln110*	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	37	40.32	B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q110*	ENST00000577390.1	37	c.328	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.756303	0.97817	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.221404	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.125	0.72475	0.0:0.2445:0.7555:0.0	.	.	.	.	X	110	.	ENSP00000299345:Q110X	Q	-	1	0	CDH8	60492803	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.690000	0.54713	2.941000	0.99782	0.655000	0.94253	CAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.418	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	protein_coding	OTTHUMT00000268754.3	G	NM_001796	-		61935302	-1	no_errors	ENST00000577390	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	61935302	G	A	61935302	4	1	112	1	0	0	0	0	0	1	0	0	3118	1299	45	2	2111	2	CDH8	16	61935302	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	247392	61935302	28419451	848	8343											
PDPR	55066	genome.wustl.edu	37	chr16	70190708	70190708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggccaaggccaagctcTaccctgtcgcctccctcttc	7	19	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:70190708T>C	ENST00000288050.4	+	19	3523	c.2566T>C	c.(2566-2568)Tac>Cac	p.Y856H	RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000398122.3_Missense_Mutation_p.Y756H|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Missense_Mutation_p.Y214H|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Missense_Mutation_p.Y856H|PDPR_ENST00000542659.1_Missense_Mutation_p.Y201H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	856					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGCCAAGCTCTACCCTGTCGC	0.577																																																	0								ENSG00000090857						69	82	78					16																	70190708		2093	4219	6312	PDPR	SO:0001583	missense	0			-	HGNC		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2566T>C	16.37:g.70190708T>C	ENSP00000288050:p.Tyr856His	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.Y856H	ENST00000288050.4	37	c.2566	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826934	0.16749	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;D	0.91011	-0.36;-0.29;-2.77	6.03	6.03	0.97812	.	0.125034	0.56097	D	0.000032	D	0.90741	0.7094	L	0.29908	0.895	0.80722	D	1	D;B	0.89917	1.0;0.014	D;B	0.85130	0.997;0.013	D	0.86371	0.1723	10	0.02654	T	1	.	15.7535	0.78005	0.0:0.0:0.0:1.0	.	523;856	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	H	856;756;523;201	ENSP00000288050:Y856H;ENSP00000381190:Y756H;ENSP00000441690:Y201H	ENSP00000205055:Y523H	Y	+	1	0	PDPR	68748209	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.951000	0.87819	2.313000	0.78055	0.455000	0.32223	TAC	-	NULL		0.577	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	protein_coding	OTTHUMT00000434502.1	T	NM_017990	-		70190708	1	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70190708	T	C	70190708	3	2	112	1	0	0	0	0	1	0	0	0	11691	1522	53	5	2632	5	PDPR	16	70190708	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	8255406	70190708	20164045	849	8344											
AARS	118460	genome.wustl.edu	37	chr16	70287878	70287878	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccatgaccttctttaGggatttgagagtctcccgca	9	11	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:70287878G>A	ENST00000435634.1	-	0	0				AARS_ENST00000261772.8_Silent_p.L822L|AARS_ENST00000564359.1_5'Flank	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACCTTCTTTAGGGATTTGAGA	0.547											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000090861						120	115	117					16																	70287878		2198	4300	6498	AARS	SO:0001631	upstream_gene_variant	0			-	HGNC	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"Mtr3 (mRNA transport regulator 3)-homolog (yeast)"	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287878G>A	Exception_encountered	Somatic	0	31	0	1121	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73		Silent	SNP							pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.L822	ENST00000435634.1	37	c.2464	CCDS10887.1	16																																																																																			-	tigrfam_Ala-tRNA-lgiase_IIc		0.547	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	protein_coding	OTTHUMT00000268966.1	G	NM_058219	-		70287878	-1	no_errors	ENST00000261772	ensembl	human	known	74_37	silent	SNP	0.968	A	A	70287878	G	A	70287878	1	1	112	0	1	0	0	0	0	0	0	0	19	991	35	2		2	AARS	16	70287878	5'Flank	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	97170	70287878	20066875	850	8345											
HYDIN	54768	genome.wustl.edu	37	chr16	70913257	70913257	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttctctgaatgaccAaggagaagcctcttaaagag	11	9	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:70913257A>G	ENST00000393567.2	-	62	10650	c.10500T>C	c.(10498-10500)ctT>ctC	p.L3500L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3500					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)				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)				CTGAATGACCAAGGAGAAGCC	0.517																																																	0								ENSG00000157423						8	8	8					16																	70913257		1773	4012	5785	HYDIN	SO:0001819	synonymous_variant	0			-	HGNC	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.10500T>C	16.37:g.70913257A>G		Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	26	50.00	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.L3500	ENST00000393567.2	37	c.10500	CCDS59269.1	16																																																																																			-	NULL		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	A		-		70913257	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	SNP	1.000	G	G	70913257	A	G	70913257	2	3	112	1	0	0	0	0	0	0	0	1	7469	117	5	5		5	HYDIN	16	70913257	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	625379	70913257	19441496	851	8346											
ZFHX3	463	genome.wustl.edu	37	chr16	72830075	72830075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatttgctcttcactggggGagttgttaatgtcaaaatat	9	5	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:72830075G>A	ENST00000268489.5	-	9	7178	c.6506C>T	c.(6505-6507)tCc>tTc	p.S2169F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1255F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2169					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)			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)				TTCACTGGGGGAGTTGTTAAT	0.502																																																	0								ENSG00000140836						90	87	88					16																	72830075		2198	4300	6498	ZFHX3	SO:0001583	missense	0			-	HGNC	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.6506C>T	16.37:g.72830075G>A	ENSP00000268489:p.Ser2169Phe	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	16	63.64	D3DWS8|O15101|Q13719	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S2169F	ENST00000268489.5	37	c.6506	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300102	0.60195	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.96300	-3.97;-3.97	5.51	5.51	0.81932	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.49916	D	0.000133	D	0.96670	0.8913	L	0.28556	0.865	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.96107	0.9074	10	0.33940	T	0.23	.	19.4092	0.94662	0.0:0.0:1.0:0.0	.	2169	Q15911	ZFHX3_HUMAN	F	2169;1255	ENSP00000268489:S2169F;ENSP00000438926:S1255F	ENSP00000268489:S2169F	S	-	2	0	ZFHX3	71387576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.570000	0.86706	0.561000	0.74099	TCC	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	G	NM_006885	-		72830075	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72830075	G	A	72830075	3	1	112	1	0	0	0	0	1	0	0	0	17641	1174	41	2	4613	2	ZFHX3	16	72830075	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1916818	72830075	17524678	852	8347											
BCAR1	9564	genome.wustl.edu	37	chr16	75269881	75269881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgatggaggaacgtcgtAgacctgggggacaagcggtg	17	9	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:75269881A>G	ENST00000162330.5	-	5	1042	c.916T>C	c.(916-918)Tac>Cac	p.Y306H	BCAR1_ENST00000420641.3_Missense_Mutation_p.Y324H|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000535626.2_Missense_Mutation_p.Y158H|BCAR1_ENST00000538440.2_Missense_Mutation_p.Y306H|BCAR1_ENST00000546196.1_Missense_Mutation_p.Y277H|BCAR1_ENST00000418647.3_Missense_Mutation_p.Y352H|BCAR1_ENST00000393420.6_Missense_Mutation_p.Y324H|BCAR1_ENST00000542031.2_Missense_Mutation_p.Y304H|BCAR1_ENST00000393422.2_Missense_Mutation_p.Y324H	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	306	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAACGTCGTAGACCTGGGGG	0.632																																																	0								ENSG00000050820						22	13	16					16																	75269881		2194	4288	6482	BCAR1	SO:0001583	missense	0			-	HGNC	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.916T>C	16.37:g.75269881A>G	ENSP00000162330:p.Tyr306His	Somatic	0	17	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP							pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.Y352H	ENST00000162330.5	37	c.1054	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991692	0.54041	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.84;0.79;0.79	4.42	4.42	0.53409	.	0.207717	0.31370	N	0.007777	T	0.68155	0.2970	M	0.80508	2.5	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.996;0.994;0.986;0.994;0.988;0.998;0.994;0.996;0.986	T	0.72414	-0.4301	10	0.62326	D	0.03	-11.4262	11.9596	0.53001	1.0:0.0:0.0:0.0	.	324;158;352;304;324;324;306;306;96	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	H	306;324;324;306;352;158;324;304;277	ENSP00000162330:Y306H;ENSP00000377074:Y324H;ENSP00000392708:Y324H;ENSP00000443841:Y306H;ENSP00000391669:Y352H;ENSP00000440370:Y158H;ENSP00000377072:Y324H;ENSP00000440415:Y304H;ENSP00000442161:Y277H	ENSP00000162330:Y306H	Y	-	1	0	BCAR1	73827382	1.000000	0.71417	0.931000	0.37212	0.244000	0.25665	8.685000	0.91246	1.785000	0.52413	0.374000	0.22700	TAC	-	NULL		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	protein_coding	OTTHUMT00000269017.1	A	NM_014567	-		75269881	-1	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	SNP	0.999	G	G	75269881	A	G	75269881	3	3	112	1	0	0	0	0	1	0	0	0	1348	420	15	5	1708	5	BCAR1	16	75269881	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	2439806	75269881	15084872	853	8348											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76587337	76587337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggacacgtgactgagtcCagctgtatggcccagcctgg	13	12	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:76587337C>T	ENST00000563764.1	+	1	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CNTNAP4_ENST00000307431.8_Silent_p.S1199S|CNTNAP4_ENST00000478060.1_Silent_p.S1127S|CNTNAP4_ENST00000476707.1_Silent_p.S1203S|CNTNAP4_ENST00000377504.4_Silent_p.S1151S|CNTNAP4_ENST00000469589.1_3'UTR																							TGACTGAGTCCAGCTGTATGG	0.577																																																	0								ENSG00000152910						47	51	49					16																	76587337		2118	4226	6344	CNTNAP4	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000563764.1:c.24C>T	16.37:g.76587337C>T		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96		Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1199	ENST00000563764.1	37	c.3597		16																																																																																			-	pfscan_Laminin_G		0.577	RP11-58C22.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000421971.1	C		-		76587337	1	no_errors	ENST00000307431	ensembl	human	known	74_37	silent	SNP	1.000	T	T	76587337	C	T	76587337	2	4	112	1	0	0	0	0	0	0	0	1	3651	581	21	2		2	CNTNAP4	16	76587337	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1317456	76587337	13767416	854	8349											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77356355	77356355	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgcagtacagtttgcatcGatcttcctctagaaacaaag	7	10	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:77356355G>A	ENST00000282849.5	-	14	2459	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	681	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTTTGCATCGATCTTCCTCT	0.358																																																	0								ENSG00000140873						97	100	99					16																	77356355		2198	4300	6498	ADAMTS18	SO:0001587	stop_gained	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2041C>T	16.37:g.77356355G>A	ENSP00000282849:p.Arg681*	Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67	Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R681*	ENST00000282849.5	37	c.2041	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	G	44	10.875351	0.99482	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.78	4.77	0.60923	.	0.127143	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.1257	0.48317	0.0:0.0:0.6472:0.3528	.	.	.	.	X	681	.	ENSP00000282849:R681X	R	-	1	2	ADAMTS18	75913856	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.651000	0.54431	2.749000	0.94314	0.655000	0.94253	CGA	-	NULL		0.358	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	G		-		77356355	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	77356355	G	A	77356355	4	1	112	1	0	0	0	0	0	1	0	0	263	1066	37	1	1664	1	ADAMTS18	16	77356355	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	769018	77356355	12998398	855	8350											
BCMO1	53630	genome.wustl.edu	37	chr16	81295770	81295770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacttgtctcacaccatccCcgatttcaccgacaactgcc	4	18	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:81295770C>T	ENST00000258168.2	+	4	814	c.353C>T	c.(352-354)cCc>cTc	p.P118L	BCMO1_ENST00000425577.2_Missense_Mutation_p.P49L|BCMO1_ENST00000564552.1_Missense_Mutation_p.P118L	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CACACCATCCCCGATTTCACC	0.488																																																	0								ENSG00000135697						182	174	177					16																	81295770		2202	4300	6502	BCMO1	SO:0001583	missense	0			-	HGNC																												ENST00000258168.2:c.353C>T	16.37:g.81295770C>T	ENSP00000258168:p.Pro118Leu	Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	48	42.86		Missense_Mutation	SNP							pfam_Carotenoid_Oase	p.P118L	ENST00000258168.2	37	c.353	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.172632	0.94807	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94537	-3.45;-3.26	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.97235	0.9887	10	0.45353	T	0.12	-27.0326	19.2875	0.94084	0.0:1.0:0.0:0.0	.	49;118;49	E7EM88;Q9HAY6;B4DJC0	.;BCDO1_HUMAN;.	L	118;49	ENSP00000258168:P118L;ENSP00000400586:P49L	ENSP00000258168:P118L	P	+	2	0	BCMO1	79853271	1.000000	0.71417	0.973000	0.42090	0.909000	0.53808	5.705000	0.68355	2.554000	0.86153	0.549000	0.68633	CCC	-	pfam_Carotenoid_Oase		0.488	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	protein_coding	OTTHUMT00000269056.1	C		-		81295770	1	no_errors	ENST00000258168	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81295770	C	T	81295770	3	4	112	1	0	0	0	0	1	0	0	0	1384	623	22	2	367	2	BCMO1	16	81295770	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3939415	81295770	9058983	856	8351											
SDR42E1	93517	genome.wustl.edu	37	chr16	82032828	82032828	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcacgacttccagaacttCtgccatgaccatgggcttta	8	12	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:82032828C>T	ENST00000328945.5	-	3	1197	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	357					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						TCCAGAACTTCTGCCATGACC	0.453																																																	0								ENSG00000184860						117	114	115					16																	82032828		1931	4147	6078	SDR42E1	SO:0001583	missense	0			-	HGNC	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.1070G>A	16.37:g.82032828C>T	ENSP00000332407:p.Arg357Lys	Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	39	38.10	B2RDS1|Q9P0D1	Missense_Mutation	SNP							pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like	p.R357K	ENST00000328945.5	37	c.1070	CCDS42205.1	16	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972361	0.18736	.	.	ENSG00000184860	ENST00000328945	D	0.84298	-1.83	5.41	3.41	0.39046	.	0.257927	0.45126	D	0.000399	T	0.73489	0.3593	L	0.38692	1.165	0.19945	N	0.999949	B	0.06786	0.001	B	0.04013	0.001	T	0.55897	-0.8068	10	0.21540	T	0.41	-5.1254	4.8618	0.13588	0.0:0.5625:0.1684:0.2691	.	357	Q8WUS8	D42E1_HUMAN	K	357	ENSP00000332407:R357K	ENSP00000332407:R357K	R	-	2	0	SDR42E1	80590329	0.012000	0.17670	0.189000	0.23252	0.757000	0.42996	0.901000	0.28445	0.610000	0.30035	0.655000	0.94253	AGA	-	NULL		0.453	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR42E1	protein_coding	OTTHUMT00000388081.2	C	NM_145168	-		82032828	-1	no_errors	ENST00000328945	ensembl	human	known	74_37	missense	SNP	0.313	T	T	82032828	C	T	82032828	3	4	112	1	0	0	0	0	1	0	0	0	13981	913	32	2	115	2	SDR42E1	16	82032828	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	737058	82032828	8321925	857	8352											
SLC38A8	146167	genome.wustl.edu	37	chr16	84070431	84070431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccctgaccacaccctgGtaggtggcctggccactgac	11	17	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:84070431G>A	ENST00000299709.3	-	2	263	c.264C>T	c.(262-264)taC>taT	p.Y88Y		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	88					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCACACCCTGGTAGGTGGCCT	0.622																																																	0								ENSG00000166558						71	54	60					16																	84070431		2200	4300	6500	SLC38A8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.264C>T	16.37:g.84070431G>A		Somatic	0	86	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	70	36.36		Silent	SNP							pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.Y88	ENST00000299709.3	37	c.264	CCDS32495.1	16																																																																																			-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	protein_coding	OTTHUMT00000432623.1	G	NM_001080442	-		84070431	-1	no_errors	ENST00000299709	ensembl	human	known	74_37	silent	SNP	1.000	A	A	84070431	G	A	84070431	2	1	112	1	0	0	0	0	0	0	0	1	14618	1256	44	2		2	SLC38A8	16	84070431	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2037603	84070431	6284322	858	8353											
MBTPS1	8720	genome.wustl.edu	37	chr16	84093019	84093019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccagaaccttggagtaccGatgaagatggtttcctgtgg	12	9	0	3	rs147197996	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:84093019G>A	ENST00000343411.3	-	21	3214	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	907					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						TTGGAGTACCGATGAAGATGG	0.468																																																	0								ENSG00000140943	G	TRP/ARG	4,4396	8.1+/-20.4	0,4,2196	53	51	51		2719	5.4	1	16	dbSNP_134	51	0,8600		0,0,4300	yes	missense	MBTPS1	NM_003791.2	101	0,4,6496	AA,AG,GG		0.0,0.0909,0.0308	probably-damaging	907/1053	84093019	4,12996	2200	4300	6500	MBTPS1	SO:0001583	missense	0			-	HGNC	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.2719C>T	16.37:g.84093019G>A	ENSP00000344223:p.Arg907Trp	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	62	24.39	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.R907W	ENST00000343411.3	37	c.2719	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.488622	0.96323	9.09E-4	0.0	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.26067	1.76	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	P	0.60415	0.874	T	0.48399	-0.9039	10	0.66056	D	0.02	-27.2091	19.1452	0.93463	0.0:0.0:1.0:0.0	.	907	Q14703	MBTP1_HUMAN	W	907;352	ENSP00000344223:R907W	ENSP00000344223:R907W	R	-	1	2	MBTPS1	82650520	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	8.004000	0.88535	2.517000	0.84864	0.561000	0.74099	CGG	-	NULL		0.468	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	protein_coding	OTTHUMT00000269080.2	G	NM_003791	rs147197996		84093019	-1	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84093019	G	A	84093019	3	1	112	1	0	0	0	0	1	0	0	0	9363	1057	37	1	451	1	MBTPS1	16	84093019	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	22588	84093019	6261734	859	8354											
ZC3H18	124245	genome.wustl.edu	37	chr16	88643765	88643765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcaagtgagcctaaatcCcaagaccaggactcagaggt	12	11	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:88643765C>T	ENST00000301011.5	+	2	434	c.234C>T	c.(232-234)tcC>tcT	p.S78S	ZC3H18_ENST00000452588.2_Silent_p.S78S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	78						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)		AGCCTAAATCCCAAGACCAGG	0.627																																					Ovarian(121;375 2276 20373 38669)												0								ENSG00000158545						36	39	38					16																	88643765		2197	4300	6497	ZC3H18	SO:0001819	synonymous_variant	0			-	HGNC	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.234C>T	16.37:g.88643765C>T		Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	37	44.78	Q96DG4|Q96MP7	Silent	SNP							smart_Znf_CCCH	p.S78	ENST00000301011.5	37	c.234	CCDS10967.1	16																																																																																			-	NULL		0.627	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	protein_coding	OTTHUMT00000269168.1	C	NM_144604	-		88643765	1	no_errors	ENST00000301011	ensembl	human	known	74_37	silent	SNP	0.997	T	T	88643765	C	T	88643765	2	4	112	1	0	0	0	0	0	0	0	1	17575	610	22	2		2	ZC3H18	16	88643765	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4550746	88643765	1710988	860	8355											
APRT	353	genome.wustl.edu	37	chr16	88878283	88878283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggatccgctgctcaaCcagctgcagctcggagtcgg	14	14	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:88878283C>T	ENST00000378364.3	-	1	69	c.25G>A	c.(25-27)Gtt>Att	p.V9I	APRT_ENST00000563655.1_Missense_Mutation_p.V9I|APRT_ENST00000426324.2_Missense_Mutation_p.V9I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	9					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGCTGCTCAACCAGCTGCAGC	0.746																																																	0								ENSG00000198931						10	10	10					16																	88878283		2128	4216	6344	APRT	SO:0001583	missense	0			-	HGNC		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.25G>A	16.37:g.88878283C>T	ENSP00000367615:p.Val9Ile	Somatic	0	15	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	13	59.38	G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP							pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.V9I	ENST00000378364.3	37	c.25	CCDS32511.1	16	.	.	.	.	.	.	.	.	.	.	C	2.740	-0.262462	0.05791	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.94613	-3.47;-2.97	3.76	2.76	0.32466	.	0.318219	0.30020	N	0.010607	D	0.84379	0.5459	N	0.12611	0.24	0.41019	D	0.985063	B;B	0.26318	0.006;0.146	B;B	0.22753	0.013;0.041	T	0.79636	-0.1721	10	0.02654	T	1	-30.5076	11.6166	0.51094	0.0:0.9086:0.0:0.0914	.	9;9	G5E9J2;P07741	.;APT_HUMAN	I	9	ENSP00000367615:V9I;ENSP00000397007:V9I	ENSP00000367615:V9I	V	-	1	0	APRT	87405784	0.144000	0.22641	0.997000	0.53966	0.176000	0.22953	1.062000	0.30555	1.921000	0.55644	0.313000	0.20887	GTT	-	NULL		0.746	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	protein_coding	OTTHUMT00000430000.2	C	NM_000485	-		88878283	-1	no_errors	ENST00000378364	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88878283	C	T	88878283	3	4	112	1	0	0	0	0	1	0	0	0	819	507	18	2	537	2	APRT	16	88878283	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	234518	88878283	1476470	861	8356											
CBFA2T3	863	genome.wustl.edu	37	chr16	88967953	88967953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggcgtgtggccccctggGatgcggcaggcggtgggggc	24	10	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:88967953G>A	ENST00000268679.4	-	2	659	c.263C>T	c.(262-264)tCc>tTc	p.S88F	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.S27F|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.S88F|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.S27F	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	88	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCCCCCTGGGATGCGGCAGG	0.692			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0								ENSG00000129993						17	22	21					16																	88967953		2179	4283	6462	CBFA2T3	SO:0001583	missense	0			-	HGNC	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.263C>T	16.37:g.88967953G>A	ENSP00000268679:p.Ser88Phe	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP							pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.S88F	ENST00000268679.4	37	c.263	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713176	0.30413	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000360302	T;T;T;T	0.50813	1.43;0.81;0.73;1.43	3.95	3.95	0.45737	.	0.302825	0.33199	N	0.005161	T	0.50956	0.1646	L	0.38175	1.15	0.51767	D	0.999933	P;P;P;P	0.52692	0.93;0.954;0.955;0.841	P;P;P;P	0.55999	0.459;0.653;0.62;0.789	T	0.54846	-0.8232	10	0.72032	D	0.01	-19.4504	11.9439	0.52918	0.0:0.1761:0.8239:0.0	.	88;88;88;27	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	F	27;88;88;27	ENSP00000332122:S27F;ENSP00000268679:S88F;ENSP00000395739:S88F;ENSP00000353449:S27F	ENSP00000268679:S88F	S	-	2	0	CBFA2T3	87495454	0.968000	0.33430	0.782000	0.31804	0.211000	0.24417	0.871000	0.28023	1.918000	0.55548	0.491000	0.48974	TCC	-	NULL		0.692	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	protein_coding	OTTHUMT00000269545.2	G	NM_005187	-		88967953	-1	no_errors	ENST00000268679	ensembl	human	known	74_37	missense	SNP	0.998	A	A	88967953	G	A	88967953	3	1	112	1	0	0	0	0	1	0	0	0	2700	1174	41	2	1742	2	CBFA2T3	16	88967953	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	89670	88967953	1386800	862	8357											
ENO3	2027	genome.wustl.edu	37	chr17	4858388	4858388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcaatgtgatcaacGggggctcccatgctggaaac	12	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:4858388G>T	ENST00000323997.6	+	7	595	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	ENO3_ENST00000518175.1_Missense_Mutation_p.G155W|ENO3_ENST00000519584.1_Missense_Mutation_p.G112W	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	155					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGTGATCAACGGGGGCTCCCA	0.617																																																	0								ENSG00000108515						41	39	40					17																	4858388		2203	4300	6503	ENO3	SO:0001583	missense	0			-	HGNC	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.463G>T	17.37:g.4858388G>T	ENSP00000324105:p.Gly155Trp	Somatic	0	57	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP							pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.G155W	ENST00000323997.6	37	c.463	CCDS11062.1	17	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652112	0.88056	.	.	ENSG00000108515	ENST00000519602;ENST00000323997;ENST00000519584;ENST00000518175	T;D;D;D	0.94046	-0.27;-3.34;-3.34;-3.34	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.99325	4.515	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	0.99568	1.0970	10	0.87932	D	0	-11.3029	17.3722	0.87381	0.0:0.0:1.0:0.0	.	112;62;155	P13929-3;D3DTL4;D3DTL2	.;.;.	W	155;155;112;155	ENSP00000430055:G155W;ENSP00000324105:G155W;ENSP00000430636:G112W;ENSP00000431087:G155W	ENSP00000324105:G155W	G	+	1	0	ENO3	4799134	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.869000	0.99810	2.705000	0.92388	0.585000	0.79938	GGG	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.617	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	protein_coding	OTTHUMT00000216851.2	G		-		4858388	1	no_errors	ENST00000323997	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4858388	G	T	4858388	3	4	112	1	0	0	0	0	1	0	0	0	5125	1116	39	3	485	3	ENO3	17	4858388	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		4858388	76336822	863	8358											
WSCD1	23302	genome.wustl.edu	37	chr17	5984016	5984016	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgactccagaagtttctccGccgaacacagttcctgctgt	8	15	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:5984016G>T	ENST00000574946.1	+	2	428	c.38G>T	c.(37-39)cGc>cTc	p.R13L	WSCD1_ENST00000574232.1_Missense_Mutation_p.R13L|WSCD1_ENST00000539421.1_Missense_Mutation_p.R13L|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	13						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						AAGTTTCTCCGCCGAACACAG	0.662																																																	0								ENSG00000179314						42	41	41					17																	5984016		2120	4104	6224	WSCD1	SO:0001583	missense	0			-	HGNC		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.38G>T	17.37:g.5984016G>T	ENSP00000460825:p.Arg13Leu	Somatic	0	84	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP							pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.R13L	ENST00000574946.1	37	c.38	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	g	22.3	4.271252	0.80469	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.82526	-1.62;-1.62	5.06	5.06	0.68205	.	0.070564	0.52532	D	0.000079	D	0.86560	0.5962	L	0.47190	1.495	0.36372	D	0.861398	D	0.60575	0.988	P	0.58873	0.847	D	0.90435	0.4427	10	0.87932	D	0	-24.2834	15.9458	0.79792	0.0:0.0:1.0:0.0	.	13	Q658N2	WSCD1_HUMAN	L	13	ENSP00000323087:R13L;ENSP00000446032:R13L	ENSP00000323087:R13L	R	+	2	0	WSCD1	5924740	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.861000	0.62969	2.346000	0.79739	0.552000	0.68991	CGC	-	NULL		0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	protein_coding	OTTHUMT00000438965.4	G	NM_015253	-		5984016	1	no_errors	ENST00000317744	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5984016	G	T	5984016	3	4	112	1	0	0	0	0	1	0	0	0	17413	1087	38	3	40	3	WSCD1	17	5984016	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1125628	5984016	75211194	864	8359											
TEKT1	83659	genome.wustl.edu	37	chr17	6719280	6719280	+	Splice_Site	SNP	C	C	T													gtcaatgccaatgcgcttctCcctggcagggggaaaggcag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:6719280C>T	ENST00000338694.2	-	4	487	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	120						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATGCGCTTCTCCCTGGCAGGG	0.542																																																	0								ENSG00000167858						112	70	84					17																	6719280		2203	4300	6503	TEKT1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.357-1G>A	17.37:g.6719280C>T		Somatic	0	28	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	D3DTM7	Missense_Mutation	SNP							pfam_Tektin,prints_Tektin	p.E120K	ENST00000338694.2	37	c.358	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477597	0.84640	.	.	ENSG00000167858	ENST00000338694	T	0.02974	4.09	5.04	5.04	0.67666	.	0.465107	0.25169	N	0.032618	T	0.16981	0.0408	M	0.90977	3.165	0.80722	D	1	P	0.38597	0.639	P	0.52267	0.694	T	0.00098	-1.2069	10	0.54805	T	0.06	.	16.2605	0.82541	0.0:1.0:0.0:0.0	.	120	Q969V4	TEKT1_HUMAN	K	120	ENSP00000341346:E120K	ENSP00000341346:E120K	E	-	1	0	TEKT1	6660004	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.174000	0.42482	2.535000	0.85469	0.655000	0.94253	GAG	-	pfam_Tektin		0.542	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	protein_coding	OTTHUMT00000219867.2	C	NM_053285	-	Missense_Mutation	6719280	-1	no_errors	ENST00000338694	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6719280	C	T	6719280	5	4	112	1	0	0	0	0	0	0	1	0	15759	869	30	2	918	2	TEKT1	17	6719280	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	735264	6719280	74475930	865	8360	135	2									
TEKT1	83659	genome.wustl.edu	37	chr17	6719281	6719281	+	Splice_Site	SNP	C	C	T													tcaatgccaatgcgcttctcCctggcagggggaaaggcagc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:6719281C>T	ENST00000338694.2	-	4	486	c.357G>A	c.(355-357)agG>agA	p.R119R	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	119						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TGCGCTTCTCCCTGGCAGGGG	0.537																																																	0								ENSG00000167858						110	69	83					17																	6719281		2203	4300	6503	TEKT1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.357-1G>A	17.37:g.6719281C>T		Somatic	0	27	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67	D3DTM7	Missense_Mutation	SNP							pfam_Tektin	p.G64E	ENST00000338694.2	37	c.191	CCDS11083.1	17																																																																																			-	pfam_Tektin		0.537	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	protein_coding	OTTHUMT00000219867.2	C	NM_053285	-	Silent	6719281	-1	no_errors	ENST00000575592	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6719281	C	T	6719281	5	4	112	1	0	0	0	0	0	0	1	0	15759	637	22	2	919	2	TEKT1	17	6719281	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	6719281	74475929	866	8361	135	2									
TP53	7157	genome.wustl.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	8	15	5	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_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	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)		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)	GRCh37	CM004908	TP53	M		ENSG00000141510						62	48	53					17																	7574003		2203	4300	6503	TP53	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;	-	HGNC	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	Somatic	0	22	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	2	86.67	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7574003	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.307	A	A	7574003	G	A	7574003	4	1	112	1	0	0	0	0	0	1	0	0	16388	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	854722	7574003	73621207	867	8362											
DNAH9	1770	genome.wustl.edu	37	chr17	11687748	11687748	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaaatccatccccccactGatcgatctggccctcgcctt	6	18	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:11687748G>A	ENST00000262442.4	+	41	8021	c.7953G>A	c.(7951-7953)ctG>ctA	p.L2651L	DNAH9_ENST00000454412.2_Silent_p.L2651L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2651	AAA 3. {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)			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)		TCCCCCCACTGATCGATCTGG	0.527																																																	0								ENSG00000007174						173	165	168					17																	11687748		2203	4300	6503	DNAH9	SO:0001819	synonymous_variant	0			-	HGNC	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.7953G>A	17.37:g.11687748G>A		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	18	55.00	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L2651	ENST00000262442.4	37	c.7953	CCDS11160.1	17																																																																																			-	superfamily_P-loop_NTPase		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372	-		11687748	1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	SNP	0.824	A	A	11687748	G	A	11687748	2	1	112	1	0	0	0	0	0	0	0	1	4610	1277	45	2		2	DNAH9	17	11687748	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4113745	11687748	69507462	868	8363											
MYOCD	93649	genome.wustl.edu	37	chr17	12656030	12656030	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggtccctgccggacaccttCaatgatgcctccccctcctt	8	18	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:12656030C>T	ENST00000343344.4	+	10	1425	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	MYOCD_ENST00000425538.1_Silent_p.F475F|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.F379F			Q8IZQ8	MYCD_HUMAN	myocardin	475	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGGACACCTTCAATGATGCCT	0.627																																																	0								ENSG00000141052						68	65	66					17																	12656030		2203	4300	6503	MYOCD	SO:0001819	synonymous_variant	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1425C>T	17.37:g.12656030C>T		Somatic	0	20	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	Q5UBU5|Q8N7Q1	Silent	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.F475	ENST00000343344.4	37	c.1425	CCDS11163.1	17																																																																																			-	NULL		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	C	NM_153604	-		12656030	1	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	SNP	1.000	T	T	12656030	C	T	12656030	2	4	112	1	0	0	0	0	0	0	0	1	10089	825	29	2		2	MYOCD	17	12656030	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	968282	12656030	68539180	869	8364											
MYOCD	93649	genome.wustl.edu	37	chr17	12659837	12659837	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagtcatggtgccggggGaaacccttgtcccaaaagcc	12	13	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:12659837G>A	ENST00000343344.4	+	11	2058				MYOCD_ENST00000425538.1_Missense_Mutation_p.G722E|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.G626E			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTGCCGGGGGAAACCCTTGT	0.557																																																	0								ENSG00000141052						75	71	72					17																	12659837		692	1591	2283	MYOCD	SO:0001627	intron_variant	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2059-1565G>A	17.37:g.12659837G>A		Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	26	60.61	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.G722E	ENST00000343344.4	37	c.2165	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	2.142	-0.396461	0.04899	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000395988;ENST00000443061	T	0.39592	1.07	4.99	0.316	0.15857	.	0.793698	0.11980	N	0.510839	T	0.23014	0.0556	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25609	0.079;0.13;0.005	B;B;B	0.26969	0.021;0.075;0.003	T	0.29941	-0.9995	10	0.02654	T	1	-0.4471	6.1313	0.20207	0.091:0.0:0.417:0.492	.	441;626;722	E9PEP9;Q8IZQ8-2;Q8IZQ8-3	.;.;.	E	441;722;626;427	ENSP00000400148:G427E	ENSP00000379306:G441E	G	+	2	0	MYOCD	12600562	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.075000	0.14686	0.251000	0.21505	0.655000	0.94253	GGA	-	NULL		0.557	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	G	NM_153604	-		12659837	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12659837	G	A	12659837	1	1	112	0	1	0	0	0	0	0	0	0	10089	1174	41	2		2	MYOCD	17	12659837	Intron	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3807	12659837	68535373	870	8365											
CCDC144NL	339184	genome.wustl.edu	37	chr17	20796722	20796722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggattgttattttgaGgaagactttcaggtgtctgt	11	5	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:20796722G>A	ENST00000327925.5	-	2	517	c.398C>T	c.(397-399)cCt>cTt	p.P133L	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RNU6-1178P_ENST00000516674.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	133										large_intestine(3)|lung(3)|skin(1)	7						GTTATTTTGAGGAAGACTTTC	0.303																																																	0								ENSG00000205212						29	31	30					17																	20796722		2187	4255	6442	CCDC144NL	SO:0001583	missense	0			-	HGNC		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.398C>T	17.37:g.20796722G>A	ENSP00000328054:p.Pro133Leu	Somatic	0	234	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	111	86	56.35		Missense_Mutation	SNP							NULL	p.P133L	ENST00000327925.5	37	c.398	CCDS32591.1	17	.	.	.	.	.	.	.	.	.	.	g	11.02	1.516383	0.27123	.	.	ENSG00000205212	ENST00000327925	T	0.41400	1.0	0.9	0.9	0.19278	.	.	.	.	.	T	0.39963	0.1098	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.16482	-1.0401	9	0.72032	D	0.01	.	5.1714	0.15112	0.0:0.0:1.0:0.0	.	133	Q6NUI1	C144L_HUMAN	L	133	ENSP00000328054:P133L	ENSP00000328054:P133L	P	-	2	0	CCDC144NL	20737314	0.264000	0.24093	0.021000	0.16686	0.197000	0.23852	0.731000	0.26058	0.792000	0.33850	0.281000	0.19383	CCT	-	NULL		0.303	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	protein_coding	OTTHUMT00000255361.2	G	NM_001004306	-		20796722	-1	no_errors	ENST00000327925	ensembl	human	known	74_37	missense	SNP	0.036	A	A	20796722	G	A	20796722	3	1	112	1	0	0	0	0	1	0	0	0	2781	1000	35	2	279	2	CCDC144NL	17	20796722	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	8136885	20796722	60398488	871	8366											
SUPT6H	6830	genome.wustl.edu	37	chr17	27015224	27015224	+	Missense_Mutation	SNP	C	C	T													cctcaagatcgacacggcctCcctgggggacaggtgatgcc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:27015224C>T	ENST00000314616.6	+	24	3405	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S1041F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1041	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GACACGGCCTCCCTGGGGGAC	0.587																																																	0								ENSG00000109111						122	114	117					17																	27015224		2203	4300	6503	SUPT6H	SO:0001583	missense	0			-	HGNC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3122C>T	17.37:g.27015224C>T	ENSP00000319104:p.Ser1041Phe	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	22	60.71	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP							pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.S1041F	ENST00000314616.6	37	c.3122	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160371	0.78226	.	.	ENSG00000109111	ENST00000314616	.	.	.	4.95	4.95	0.65309	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.83483	2.645	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.82686	-0.0334	9	0.59425	D	0.04	-15.1237	18.5664	0.91118	0.0:1.0:0.0:0.0	.	1041	Q7KZ85	SPT6H_HUMAN	F	1041	.	ENSP00000319104:S1041F	S	+	2	0	SUPT6H	24039351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.473000	0.83533	0.650000	0.86243	TCC	-	pirsf_TF_Spt6		0.587	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	C	NM_003170	-		27015224	1	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27015224	C	T	27015224	3	4	112	1	0	0	0	0	1	0	0	0	15407	855	30	2	3212	2	SUPT6H	17	27015224	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6218502	27015224	54179986	872	8367	136	2									
SUPT6H	6830	genome.wustl.edu	37	chr17	27015225	27015225	+	Silent	SNP	C	C	T													ctcaagatcgacacggcctcCctgggggacaggtgatgccc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:27015225C>T	ENST00000314616.6	+	24	3406	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S	SUPT6H_ENST00000347486.4_Silent_p.S1041S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1041	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACACGGCCTCCCTGGGGGACA	0.587																																																	0								ENSG00000109111						121	114	116					17																	27015225		2203	4300	6503	SUPT6H	SO:0001819	synonymous_variant	0			-	HGNC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3123C>T	17.37:g.27015225C>T		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	21	61.82	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP							pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.S1041	ENST00000314616.6	37	c.3123	CCDS32596.1	17																																																																																			-	pirsf_TF_Spt6		0.587	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	C	NM_003170	-		27015225	1	no_errors	ENST00000314616	ensembl	human	known	74_37	silent	SNP	0.993	T	T	27015225	C	T	27015225	2	4	112	1	0	0	0	0	0	0	0	1	15407	610	22	2		2	SUPT6H	17	27015225	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	27015225	54179985	873	8368	136	2									
SLFN11	91607	genome.wustl.edu	37	chr17	33689777	33689777	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggatctgtgtctgtcatCatgcctacccatttctcggt	8	13	5	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:33689777C>T	ENST00000394566.1	-	4	1322	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	SLFN11_ENST00000308377.4_Missense_Mutation_p.M350I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	350					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTCTGTCATCATGCCTACCC	0.483																																																	0								ENSG00000172716						86	78	81					17																	33689777		2203	4300	6503	SLFN11	SO:0001583	missense	0			-	HGNC	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1050G>A	17.37:g.33689777C>T	ENSP00000378067:p.Met350Ile	Somatic	0	110	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	12	65.71	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.M350I	ENST00000394566.1	37	c.1050	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816306	0.32145	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.58358	0.34;0.34	4.14	3.14	0.36123	.	0.380802	0.19619	N	0.109957	T	0.45716	0.1356	M	0.78801	2.425	0.09310	N	1	P	0.36086	0.536	B	0.30401	0.115	T	0.33727	-0.9857	10	0.22109	T	0.4	.	7.9145	0.29810	0.0:0.8836:0.0:0.1164	.	350	Q7Z7L1	SLN11_HUMAN	I	350	ENSP00000312402:M350I;ENSP00000378067:M350I	ENSP00000312402:M350I	M	-	3	0	SLFN11	30713890	0.032000	0.19561	0.014000	0.15608	0.082000	0.17680	0.056000	0.14256	2.139000	0.66308	0.650000	0.86243	ATG	-	NULL		0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	protein_coding	OTTHUMT00000256480.1	C	NM_152270	-		33689777	-1	no_errors	ENST00000308377	ensembl	human	known	74_37	missense	SNP	0.001	T	T	33689777	C	T	33689777	3	4	112	1	0	0	0	0	1	0	0	0	14741	826	29	2	1671	2	SLFN11	17	33689777	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6674552	33689777	47505433	874	8369											
TTC25	83538	genome.wustl.edu	37	chr17	40091552	40091552	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgggagacttggagagatCcctgaaggatgctgaggctt	16	6	0	4	rs139256162		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:40091552C>T	ENST00000591658.1	+	0	265							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAGAGATCCCTGAAGGAT	0.532																																																	0								ENSG00000204815						59	58	58					17																	40091552		1961	4154	6115	TTC25			0			-	HGNC	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"Tetratricopeptide (TTC) repeat domain containing"	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091552C>T		Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	10	76.74	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP							-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289769	0.80914	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050133	0.85682	D	0.000000	T	0.74489	0.3723	L	0.40543	1.245	0.35787	D	0.822119	D;D	0.76494	0.997;0.999	D;D	0.76071	0.968;0.987	T	0.75494	-0.3298	8	0.87932	D	0	-30.7423	20.1027	0.97880	0.0:1.0:0.0:0.0	.	66;66	C9JGW6;Q96NG3	.;TTC25_HUMAN	F	66	.	ENSP00000366763:S66F	S	+	2	0	AC091172.1	37345078	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.243000	0.78219	2.756000	0.94617	0.655000	0.94253	TCC	-	-		0.532	TTC25-001	KNOWN	basic	processed_transcript	TTC25	processed_transcript	OTTHUMT00000449237.1	C	NM_031421	-		40091552	1	no_errors	ENST00000377540	ensembl	human	known	74_37	rna	SNP	1.000	T	T	40091552	C	T	40091552	1	4	112	0	1	0	0	0	0	0	0	0	16700	855	30	2		2	TTC25	17	40091552	RNA	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6401775	40091552	41103658	875	8370											
BECN1	8678	genome.wustl.edu	37	chr17	40963737	40963737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgaactgctgcacacagtCcaggaaagccaccattgcat	8	12	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:40963737C>T	ENST00000361523.4	-	11	1252	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	BECN1_ENST00000590099.1_Missense_Mutation_p.D374N|BECN1_ENST00000438274.3_Intron	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	374					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.D374Y(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)		TGCACACAGTCCAGGAAAGCC	0.488																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000126581						179	157	165					17																	40963737		2203	4300	6503	BECN1	SO:0001583	missense	0			-	HGNC	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.1120G>A	17.37:g.40963737C>T	ENSP00000355231:p.Asp374Asn	Somatic	0	83	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	15	69.39	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP							pfam_Beclin_fam,superfamily_Translin	p.D374N	ENST00000361523.4	37	c.1120	CCDS11441.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.449577	0.96205	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.48836	0.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70554	-0.4840	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	374	Q14457	BECN1_HUMAN	N	374;287	ENSP00000355231:D374N	ENSP00000355231:D374N	D	-	1	0	BECN1	38217263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAC	-	pfam_Beclin_fam		0.488	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	protein_coding	OTTHUMT00000452405.1	C	NM_003766	-		40963737	-1	no_errors	ENST00000361523	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40963737	C	T	40963737	3	4	112	1	0	0	0	0	1	0	0	0	1396	855	30	2	240	2	BECN1	17	40963737	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	872185	40963737	40231473	876	8371											
ITGA2B	3674	genome.wustl.edu	37	chr17	42457510	42457510	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgccggtccagctgcagctCggcatttagggctggcaggg	16	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:42457510C>A	ENST00000262407.5	-	17	1643	c.1612G>T	c.(1612-1614)Gag>Tag	p.E538*	ITGA2B_ENST00000353281.4_Nonsense_Mutation_p.E538*|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	538					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGCTGCAGCTCGGCATTTAGG	0.677																																																	0								ENSG00000005961						31	36	34					17																	42457510		2202	4300	6502	ITGA2B	SO:0001587	stop_gained	0			-	HGNC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1612G>T	17.37:g.42457510C>A	ENSP00000262407:p.Glu538*	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RCY8|O95366|Q14443|Q17R67	Nonsense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E538*	ENST00000262407.5	37	c.1612	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338687	0.81911	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	5.38	4.35	0.52113	.	0.230379	0.22065	N	0.065106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.791	0.63140	0.1542:0.8458:0.0:0.0	.	.	.	.	X	538	.	ENSP00000262407:E538X	E	-	1	0	ITGA2B	39813036	1.000000	0.71417	0.950000	0.38849	0.321000	0.28281	3.464000	0.53057	2.513000	0.84729	0.561000	0.74099	GAG	-	pfam_Integrin_alpha-2		0.677	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	protein_coding	OTTHUMT00000439823.1	C		-		42457510	-1	no_errors	ENST00000262407	ensembl	human	known	74_37	nonsense	SNP	0.997	A	A	42457510	C	A	42457510	4	1	112	1	0	0	0	0	0	1	0	0	7878	893	31	3	1563	3	ITGA2B	17	42457510	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1493773	42457510	38737700	877	8372											
EPN3	55040	genome.wustl.edu	37	chr17	48618324	48618324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgctgcctgctgggcccCccaccacagacccctgggcc	11	20	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:48618324C>T	ENST00000268933.3	+	7	1729	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.P412S|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	384	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGCTGGGCCCCCCACCACAGA	0.677																																																	0								ENSG00000049283						22	26	25					17																	48618324		2202	4300	6502	EPN3	SO:0001583	missense	0			-	HGNC	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1150C>T	17.37:g.48618324C>T	ENSP00000268933:p.Pro384Ser	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	20	69.23	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP							pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.P412S	ENST00000268933.3	37	c.1234	CCDS11570.1	17	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292418	0.23564	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.23950	1.88;1.88	5.17	4.19	0.49359	.	0.650760	0.15446	N	0.261927	T	0.37489	0.1005	L	0.54323	1.7	0.80722	D	1	D;D;B	0.71674	0.997;0.998;0.029	P;D;B	0.66351	0.879;0.943;0.028	T	0.08351	-1.0726	10	0.07030	T	0.85	-25.7739	11.085	0.48082	0.0:0.9128:0.0:0.0872	.	412;412;384	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	S	384;412;412	ENSP00000268933:P384S;ENSP00000439512:P412S	ENSP00000268933:P384S	P	+	1	0	EPN3	45973323	0.000000	0.05858	0.531000	0.27976	0.209000	0.24338	-0.187000	0.09656	2.409000	0.81822	0.561000	0.74099	CCC	-	NULL		0.677	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	protein_coding	OTTHUMT00000367573.1	C	NM_017957	-		48618324	1	no_errors	ENST00000537145	ensembl	human	known	74_37	missense	SNP	0.466	T	T	48618324	C	T	48618324	3	4	112	1	0	0	0	0	1	0	0	0	5189	623	22	2	1172	2	EPN3	17	48618324	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6160814	48618324	32576886	878	8373											
MSI2	124540	genome.wustl.edu	37	chr17	55704589	55704589	+	Splice_Site	SNP	G	G	A													atctttctctttgtgttcaaGgatatcccaacttcgtggcg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:55704589G>A	ENST00000284073.2	+	10	861		c.e10-1		MSI2_ENST00000579180.1_Splice_Site|MSI2_ENST00000579505.1_Splice_Site|MSI2_ENST00000442934.2_Splice_Site|MSI2_ENST00000322684.3_Splice_Site|MSI2_ENST00000416426.2_Splice_Site	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2							cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TTGTGTTCAAGGATATCCCAA	0.527			T	HOXA9	CML																																			Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0								ENSG00000153944						184	164	171					17																	55704589		2203	4300	6503	MSI2	SO:0001630	splice_region_variant	0			-	HGNC	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.653-1G>A	17.37:g.55704589G>A		Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	10	75.61	Q7Z6M7|Q8N9T4	Splice_Site	SNP							-	e10-1	ENST00000284073.2	37	c.653-1	CCDS11596.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270275	0.80469	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSI2	53059588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.229000	0.89791	2.660000	0.90430	0.650000	0.86243	.	-	-		0.527	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI2	protein_coding	OTTHUMT00000441813.1	G		-	Intron	55704589	1	no_errors	ENST00000284073	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	55704589	G	A	55704589	5	1	112	1	0	0	0	0	0	0	1	0	9878	1014	35	2	740	2	MSI2	17	55704589	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	7086265	55704589	25490621	879	8374	137	2									
MSI2	124540	genome.wustl.edu	37	chr17	55704590	55704590	+	Splice_Site	SNP	G	G	A													tctttctctttgtgttcaagGatatcccaacttcgtggcga							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:55704590G>A	ENST00000284073.2	+	10	862	c.653G>A	c.(652-654)gGa>gAa	p.G218E	MSI2_ENST00000579180.1_Splice_Site_p.G114E|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Splice_Site_p.G157E|MSI2_ENST00000322684.3_Splice_Site_p.G214E|MSI2_ENST00000416426.2_Splice_Site_p.G196E	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	218		Breakpoint for translocation to form MSI2/HOXA9 fusion protein.				cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TGTGTTCAAGGATATCCCAAC	0.527			T	HOXA9	CML																																			Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0								ENSG00000153944						186	166	173					17																	55704590		2203	4300	6503	MSI2	SO:0001630	splice_region_variant	0			-	HGNC	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.653-1G>A	17.37:g.55704590G>A		Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	8	79.49	Q7Z6M7|Q8N9T4	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G218E	ENST00000284073.2	37	c.653	CCDS11596.1	17	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849739	0.71603	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	T;D;T;T	0.84800	3.4;-1.9;3.4;3.4	5.67	5.67	0.87782	.	0.044675	0.85682	D	0.000000	D	0.91761	0.7394	M	0.66939	2.045	0.80722	D	1	P;D;B	0.89917	0.455;1.0;0.141	B;D;B	0.80764	0.085;0.994;0.123	D	0.90585	0.4532	9	.	.	.	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	196;214;218	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	E	196;218;214;157	ENSP00000414671:G196E;ENSP00000284073:G218E;ENSP00000313616:G214E;ENSP00000392607:G157E	.	G	+	2	0	MSI2	53059589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.229000	0.89791	2.660000	0.90430	0.650000	0.86243	GGA	-	NULL		0.527	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI2	protein_coding	OTTHUMT00000441813.1	G		-	Missense_Mutation	55704590	1	no_errors	ENST00000284073	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55704590	G	A	55704590	5	1	112	1	0	0	0	0	0	0	1	0	9878	1188	41	2	741	2	MSI2	17	55704590	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	55704590	25490620	880	8375	137	2									
BPTF	2186	genome.wustl.edu	37	chr17	65955782	65955783	+	In_Frame_Ins	INS	-	-	GCC													cagcccctccagcccctccaINSccttcacctccccctccacc					rs60308484		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:65955782_65955783insGCC	ENST00000321892.4	+	26	8491_8492	c.8430_8431insGCC	c.(8431-8433)cct>GCCcct	p.2810_2811insA	BPTF_ENST00000306378.6_In_Frame_Ins_p.2684_2685insA|BPTF_ENST00000335221.5_In_Frame_Ins_p.2667_2668insA|BPTF_ENST00000424123.3_In_Frame_Ins_p.2528_2529insA			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2810	Pro-rich.				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)			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)			cagcccctccaCCTTCACCTCC	0.589																																																	0								ENSG00000171634																																			BPTF	SO:0001652	inframe_insertion	0				HGNC	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	Exception_encountered	17.37:g.65955782_65955783insGCC	ENSP00000315454:p.Pro2810_Pro2811insAla	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS							pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.2810in_frame_insA	ENST00000321892.4	37	c.8430_8431		17																																																																																			-	superfamily_Bromodomain		0.589	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		-	NM_182641, NM_004459			65955783	1	no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_ins	INS	0.069:0.577	GCC	GCC	65955783	-	GCC	65955782	7	5	112	1	0	1	1	0	0	0	0	0	1497	146	6	0	8532	0	BPTF	17	65955782	In_Frame_Ins	INS	-	TCGA-DX-AB2E-01A-11D-A38Z-09	10251192	65955782	15239428	881	8376											
TMC6	11322	genome.wustl.edu	37	chr17	76113631	76113631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagccaggagaccctggGgcctgccgcctccaggtggc	17	15	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:76113631G>A	ENST00000590602.1	-	17	2275	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S	TMC6_ENST00000322914.3_Missense_Mutation_p.P706S|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.P285S|TMC6_ENST00000591436.1_Missense_Mutation_p.P285S|TMC6_ENST00000392467.3_Missense_Mutation_p.P706S|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	706					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGACCCTGGGGCCTGCCGCC	0.677																																																	0								ENSG00000141524						13	14	14					17																	76113631		2189	4282	6471	TMC6	SO:0001583	missense	0			-	HGNC	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2116C>T	17.37:g.76113631G>A	ENSP00000465261:p.Pro706Ser	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	18	67.27	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP							pfam_TMC	p.P706S	ENST00000590602.1	37	c.2116	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254513	0.22965	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71698	-0.26;-0.26;-0.59	3.69	2.71	0.32032	.	0.203712	0.42548	N	0.000687	T	0.57814	0.2079	L	0.38953	1.18	0.40326	D	0.97887	B;B	0.25809	0.002;0.135	B;B	0.24848	0.007;0.056	T	0.53041	-0.8494	10	0.31617	T	0.26	-10.9604	10.8055	0.46516	0.0945:0.0:0.9055:0.0	.	706;285	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	S	706;706;285	ENSP00000313408:P706S;ENSP00000376260:P706S;ENSP00000313479:P285S	ENSP00000313408:P706S	P	-	1	0	TMC6	73625226	1.000000	0.71417	0.226000	0.23910	0.159000	0.22180	5.839000	0.69395	0.752000	0.32923	0.555000	0.69702	CCC	-	NULL		0.677	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	protein_coding	OTTHUMT00000437146.1	G		-		76113631	-1	no_errors	ENST00000322914	ensembl	human	known	74_37	missense	SNP	0.962	A	A	76113631	G	A	76113631	3	1	112	1	0	0	0	0	1	0	0	0	15996	1232	43	2	317	2	TMC6	17	76113631	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10157849	76113631	5081579	882	8377											
BAHCC1	57597	genome.wustl.edu	37	chr17	79419792	79419792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacggcgggggcctggcCggccgaggaagcgcaaacac	17	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:79419792C>T	ENST00000307745.7	+	18	4360	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	MIR3186_ENST00000577404.1_RNA																							GGGGCCTGGCCGGCCGAGGAA	0.682																																																	0								ENSG00000171282						14	21	19					17																	79419792		2050	4150	6200	RP11-1055B8.7	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000307745.7:c.4360C>T	17.37:g.79419792C>T	ENSP00000303486:p.Arg1454Trp	Somatic	0	211	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	63	62.79		Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R1454W	ENST00000307745.7	37	c.4360		17	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672988	0.67928	.	.	ENSG00000171282	ENST00000307745	T	0.31510	1.49	4.57	3.58	0.41010	.	0.141721	0.29964	N	0.010741	T	0.55242	0.1908	M	0.81942	2.565	0.44282	D	0.997148	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.60332	-0.7284	10	0.87932	D	0	.	11.4511	0.50154	0.1799:0.8201:0.0:0.0	.	1454;1454	Q9P281;F8WBW8	BAHC1_HUMAN;.	W	1454	ENSP00000303486:R1454W	ENSP00000303486:R1454W	R	+	1	2	AC110285.1	77034387	0.275000	0.24201	0.999000	0.59377	0.481000	0.33189	0.519000	0.22862	1.114000	0.41781	0.462000	0.41574	CGG	-	NULL		0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	protein_coding		C		-		79419792	1	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	SNP	0.998	T	T	79419792	C	T	79419792	3	4	112	1	0	0	0	0	1	0	0	0	1296	643	23	1	4245	1	BAHCC1	17	79419792	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3306161	79419792	1775418	883	8378											
FASN	2194	genome.wustl.edu	37	chr17	80053287	80053287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtggactccgaagaaGgaggcatcaaacctagacag	14	8	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:80053287G>A	ENST00000306749.2	-	3	407	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	63	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCCGAAGAAGGAGGCATCAA	0.617																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						75	68	70					17																	80053287		2203	4300	6503	FASN	SO:0001819	synonymous_variant	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.189C>T	17.37:g.80053287G>A		Somatic	0	103	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	26	72.63	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP							pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.S63	ENST00000306749.2	37	c.189	CCDS11801.1	17																																																																																			-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom		0.617	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	G	NM_004104	-		80053287	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	SNP	1.000	A	A	80053287	G	A	80053287	2	1	112	1	0	0	0	0	0	0	0	1	5685	987	35	2		2	FASN	17	80053287	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	633495	80053287	1141923	884	8379											
B3GNTL1	146712	genome.wustl.edu	37	chr17	80914630	80914630	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcaggatggggattcGgggcttgggtctttcctgag	18	6	1	1	rs199962764		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:80914630G>A	ENST00000320865.3	-	11	959	c.946C>T	c.(946-948)Cga>Tga	p.R316*	B3GNTL1_ENST00000576599.1_Nonsense_Mutation_p.R205*	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	316							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ATGGGGATTCGGGGCTTGGGT	0.657													g|||	1	0.000199681	8e-04	0	5008	,	,		16482	0		0	False		,,,				2504	0																0								ENSG00000175711		stop/ARG	4,4382		0,4,2189	147	136	140		946	1.5	0.6	17		140	0,8592		0,0,4296	yes	stop-gained	B3GNTL1	NM_001009905.1		0,4,6485	AA,AG,GG		0.0,0.0912,0.0308		316/362	80914630	4,12974	2193	4296	6489	B3GNTL1	SO:0001587	stop_gained	0			-	HGNC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.946C>T	17.37:g.80914630G>A	ENSP00000319979:p.Arg316*	Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	30	65.12	Q6GV30|Q8WUT3	Nonsense_Mutation	SNP							pfam_Glyco_trans_2	p.R316*	ENST00000320865.3	37	c.946	CCDS32778.1	17	.	.	.	.	.	.	.	.	.	.	g	45	12.027659	0.99629	9.12E-4	0.0	ENSG00000175711	ENST00000320865	.	.	.	3.8	1.49	0.22878	.	0.277991	0.33631	N	0.004714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.5726	7.8892	0.29667	0.0:0.0:0.5309:0.4691	.	.	.	.	X	316	.	.	R	-	1	2	B3GNTL1	78507919	0.299000	0.24426	0.590000	0.28732	0.334000	0.28698	1.801000	0.38843	0.869000	0.35703	0.651000	0.88453	CGA	-	NULL		0.657	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	protein_coding	OTTHUMT00000438949.1	G	NM_001009905	rs199962764		80914630	-1	no_errors	ENST00000320865	ensembl	human	known	74_37	nonsense	SNP	0.353	A	A	80914630	G	A	80914630	4	1	112	1	0	0	0	0	0	1	0	0	1265	1124	39	1	147	1	B3GNTL1	17	80914630	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	861343	80914630	280580	885	8380											
LAMA1	284217	genome.wustl.edu	37	chr18	7042207	7042207	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgagggaccccacagggtCacaattacaggggcggcaag	14	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:7042207C>T	ENST00000389658.3	-	9	1291	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	400	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)				CCCACAGGGTCACAATTACAG	0.443																																																	0								ENSG00000101680						60	50	53					18																	7042207		2203	4300	6503	LAMA1	SO:0001583	missense	0			-	HGNC	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.1198G>A	18.37:g.7042207C>T	ENSP00000374309:p.Asp400Asn	Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	13	60.61		Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D400N	ENST00000389658.3	37	c.1198	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954491	0.73902	.	.	ENSG00000101680	ENST00000389658	T	0.60299	0.2	5.81	3.01	0.34805	EGF-like, laminin (3);	0.053950	0.64402	N	0.000001	T	0.60470	0.2271	L	0.37750	1.13	0.49299	D	0.999771	D	0.76494	0.999	D	0.79784	0.993	T	0.53344	-0.8452	10	0.23302	T	0.38	.	7.793	0.29131	0.0:0.7243:0.1332:0.1425	.	400	P25391	LAMA1_HUMAN	N	400	ENSP00000374309:D400N	ENSP00000374309:D400N	D	-	1	0	LAMA1	7032207	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.481000	0.45215	0.350000	0.24002	0.655000	0.94253	GAC	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	C	NM_005559	-		7042207	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7042207	C	T	7042207	3	4	112	1	0	0	0	0	1	0	0	0	8607	826	29	2	8249	2	LAMA1	18	7042207	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		7042207	71035041	886	8381											
LRRC30	339291	genome.wustl.edu	37	chr18	7231500	7231500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacagtgcctcaaggtcCtgtttgtcaacatgaactgc	8	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:7231500C>T	ENST00000383467.2	+	1	378	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	122										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTCAAGGTCCTGTTTGTCAA	0.597																																																	0								ENSG00000206422						38	43	42					18																	7231500		2023	4186	6209	LRRC30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.364C>T	18.37:g.7231500C>T		Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	20	57.45		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L122	ENST00000383467.2	37	c.364	CCDS42409.1	18																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	C	XM_292678	-		7231500	1	no_errors	ENST00000383467	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7231500	C	T	7231500	2	4	112	1	0	0	0	0	0	0	0	1	8987	680	24	2		2	LRRC30	18	7231500	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	189293	7231500	70845748	887	8382											
RNMT	8731	genome.wustl.edu	37	chr18	13734511	13734511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcccattacaatgaaCttcaggaagttggtttggag	12	7	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:13734511C>T	ENST00000383314.2	+	4	706	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	RNMT_ENST00000589866.1_Missense_Mutation_p.L156F|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.L156F|RNMT_ENST00000592764.1_Missense_Mutation_p.L156F|RNMT_ENST00000262173.3_Missense_Mutation_p.L156F			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	156	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TTACAATGAACTTCAGGAAGT	0.348																																					GBM(29;474 594 19092 36647 41529)												0								ENSG00000101654						121	121	121					18																	13734511		2203	4300	6503	RNMT	SO:0001583	missense	0			-	HGNC	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.466C>T	18.37:g.13734511C>T	ENSP00000372804:p.Leu156Phe	Somatic	0	119	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	33	61.63	B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP							pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.L156F	ENST00000383314.2	37	c.466	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578701	0.86645	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.9	5.9	0.94986	.	0.181070	0.49916	D	0.000135	T	0.78123	0.4234	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	T	0.70828	-0.4766	9	0.10636	T	0.68	-32.0439	20.2822	0.98520	0.0:1.0:0.0:0.0	.	156;156	O43148-2;O43148	.;MCES_HUMAN	F	156	.	ENSP00000262173:L156F	L	+	1	0	RNMT	13724511	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.176000	0.58269	2.806000	0.96561	0.655000	0.94253	CTT	-	pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase		0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	protein_coding	OTTHUMT00000254636.1	C	NM_003799	-		13734511	1	no_errors	ENST00000262173	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13734511	C	T	13734511	3	4	112	1	0	0	0	0	1	0	0	0	13514	565	20	2	472	2	RNMT	18	13734511	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6503011	13734511	64342737	888	8383											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14851814	14851814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaagacaaagaaatactgGagacagaaattgaatcacac	7	7	1	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:14851814G>A	ENST00000358984.4	+	36	3694	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1172										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAATACTGGAGACAGAAAT	0.398																																																	0								ENSG00000180777						10	9	9					18																	14851814		686	1565	2251	ANKRD30B	SO:0001583	missense	0			-	HGNC	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3514G>A	18.37:g.14851814G>A	ENSP00000351875:p.Glu1172Lys	Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1172K	ENST00000358984.4	37	c.3514	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651698	0.14516	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.29917	1.55	1.39	1.39	0.22231	.	.	.	.	.	T	0.40909	0.1136	L	0.48642	1.525	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.62885	0.855;0.908	T	0.35126	-0.9801	9	0.87932	D	0	.	8.7313	0.34501	0.0:0.0:1.0:0.0	.	1257;1172	Q9BXX2;F8WAG3	AN30B_HUMAN;.	K	1172;566;592	ENSP00000351875:E1172K	ENSP00000277669:E592K	E	+	1	0	ANKRD30B	14841814	1.000000	0.71417	0.922000	0.36590	0.314000	0.28054	3.141000	0.50593	1.076000	0.40961	0.173000	0.16961	GAG	-	NULL		0.398	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	protein_coding	OTTHUMT00000443557.1	G	NM_001145029	-		14851814	1	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14851814	G	A	14851814	3	1	112	1	0	0	0	0	1	0	0	0	659	1175	41	2	3656	2	ANKRD30B	18	14851814	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1117303	14851814	63225434	889	8384											
DSG4	147409	genome.wustl.edu	37	chr18	28979506	28979506	+	Splice_Site	SNP	G	G	A													aaaccctgcaacagatgtcaGgtactgcaactattttcttc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:28979506G>A	ENST00000308128.4	+	9	1412	c.1277G>A	c.(1276-1278)aGa>aAa	p.R426K	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Splice_Site_p.R426K|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGATGTCAGGTACTGCAAC	0.388																																																	0								ENSG00000175065						102	103	103					18																	28979506		2203	4300	6503	DSG4	SO:0001630	splice_region_variant	0			-	HGNC	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1277+1G>A	18.37:g.28979506G>A		Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	3	76.92	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.R426K	ENST00000308128.4	37	c.1277	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952136	0.18431	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.50548	0.74;0.74	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.38381	N	0.001701	T	0.56659	0.2000	M	0.76838	2.35	0.37048	D	0.897487	P;P	0.46395	0.845;0.877	P;P	0.48654	0.55;0.585	T	0.62501	-0.6841	10	0.31617	T	0.26	.	13.4537	0.61187	0.0:0.0:0.7395:0.2605	.	426;426	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	K	426	ENSP00000311859:R426K;ENSP00000352785:R426K	ENSP00000311859:R426K	R	+	2	0	DSG4	27233504	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	2.456000	0.44997	2.649000	0.89929	0.650000	0.86243	AGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	protein_coding	OTTHUMT00000254941.1	G	NM_177986	-	Missense_Mutation	28979506	1	no_errors	ENST00000359747	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28979506	G	A	28979506	5	1	112	1	0	0	0	0	0	0	1	0	4781	1014	35	2	1311	2	DSG4	18	28979506	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	14127692	28979506	49097742	890	8385	138	2									
DSG4	147409	genome.wustl.edu	37	chr18	28979507	28979507	+	Splice_Site	SNP	G	G	A													aaccctgcaacagatgtcagGtactgcaactattttcttca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:28979507G>A	ENST00000308128.4	+	9	1412		c.e9+1		RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Splice_Site|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4						anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGATGTCAGGTACTGCAACT	0.388																																																	0								ENSG00000175065						101	103	102					18																	28979507		2203	4300	6503	DSG4	SO:0001630	splice_region_variant	0			-	HGNC	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1277+1G>A	18.37:g.28979507G>A		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	3	76.92	A2RUI1|Q6Y9L9|Q8IXV4	Splice_Site	SNP							-	e9+1	ENST00000308128.4	37	c.1277+1	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754921	0.31046	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3891	0.94573	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG4	27233505	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.410000	0.80065	2.649000	0.89929	0.650000	0.86243	.	-	-		0.388	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	protein_coding	OTTHUMT00000254941.1	G	NM_177986	-	Intron	28979507	1	no_errors	ENST00000359747	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	28979507	G	A	28979507	5	1	112	1	0	0	0	0	0	0	1	0	4781	1275	44	2	1312	2	DSG4	18	28979507	Splice_Site	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	28979507	49097741	891	8386	138	2									
NOL4	8715	genome.wustl.edu	37	chr18	31537439	31537439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcttagagattgggaCcattcggtccaagttttcat	12	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:31537439C>T	ENST00000261592.5	-	8	1576	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.V142I|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.V353I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	427						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGATTGGGACCATTCGGTCC	0.483																																																	0								ENSG00000101746						112	91	98					18																	31537439		2203	4300	6503	NOL4	SO:0001583	missense	0			-	HGNC	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1279G>A	18.37:g.31537439C>T	ENSP00000261592:p.Val427Ile	Somatic	0	74	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	15	61.54	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP							NULL	p.V427I	ENST00000261592.5	37	c.1279	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187911	0.78789	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	T;T	0.80123	-1.34;-1.34	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000002	D	0.87418	0.6172	L	0.48877	1.53	0.80722	D	1	P;D	0.61697	0.883;0.99	P;D	0.73380	0.457;0.98	D	0.85483	0.1180	10	0.44086	T	0.13	-12.55	20.5073	0.99209	0.0:1.0:0.0:0.0	.	353;427	B4DSQ0;O94818	.;NOL4_HUMAN	I	427;142;353	ENSP00000445733:V142I;ENSP00000443472:V353I	ENSP00000261592:V427I	V	-	1	0	NOL4	29791437	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.855000	0.98099	0.585000	0.79938	GTC	-	NULL		0.483	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	C	NM_003787	-		31537439	-1	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31537439	C	T	31537439	3	4	112	1	0	0	0	0	1	0	0	0	10526	507	18	2	653	2	NOL4	18	31537439	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2557932	31537439	46539809	892	8387											
SLC14A1	6563	genome.wustl.edu	37	chr18	43310340	43310340	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccactatggttaggggtGaaaaccaggtttcgccatgt	12	10	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:43310340G>A	ENST00000321925.4	+	3	287	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	SLC14A1_ENST00000436407.3_Missense_Mutation_p.E75K|SLC14A1_ENST00000589700.1_Missense_Mutation_p.E19K|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E75K|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.E19K|SLC14A1_ENST00000502059.2_Intron|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	19					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTAGGGGTGAAAACCAGGT	0.507																																																	0								ENSG00000141469						122	105	111					18																	43310340		2203	4300	6503	SLC14A1	SO:0001583	missense	0			-	HGNC	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.55G>A	18.37:g.43310340G>A	ENSP00000318546:p.Glu19Lys	Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	22	63.93	A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP							pfam_Urea_transporter	p.E75K	ENST00000321925.4	37	c.223	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007541	0.35415	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000436407	T;T;T	0.47869	0.87;0.83;0.83	5.68	4.81	0.61882	.	0.683152	0.14598	N	0.309831	T	0.48352	0.1495	M	0.74881	2.28	0.80722	D	1	P;B	0.38504	0.634;0.161	B;B	0.39258	0.295;0.104	T	0.37753	-0.9692	10	0.22109	T	0.4	-23.1109	10.4712	0.44638	0.0892:0.0:0.9108:0.0	.	75;19	Q13336-2;Q13336	.;UT1_HUMAN	K	19;75;75	ENSP00000318546:E19K;ENSP00000412309:E75K;ENSP00000390637:E75K	ENSP00000318546:E19K	E	+	1	0	SLC14A1	41564338	0.996000	0.38824	0.249000	0.24280	0.714000	0.41099	4.004000	0.57068	1.411000	0.46957	0.655000	0.94253	GAA	-	NULL		0.507	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	protein_coding	OTTHUMT00000255860.2	G	NM_015865	-		43310340	1	no_errors	ENST00000415427	ensembl	human	known	74_37	missense	SNP	0.662	A	A	43310340	G	A	43310340	3	1	112	1	0	0	0	0	1	0	0	0	14404	1291	45	2	229	2	SLC14A1	18	43310340	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	11772901	43310340	34766908	893	8388											
TCEB3CL	100506888	genome.wustl.edu	37	chr18	44543450	44543450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtccagggaaagcagcttCctcctggagcgttggcgcgg	16	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:44543450C>T	ENST00000591973.2	-	1	1157	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	308	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										AAAGCAGCTTCCTCCTGGAGC	0.632																																																	0								ENSG00000266996						1	1	1					18																	44543450		82	305	387	TCEB3CL2	SO:0001583	missense	0			-	HGNC		CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.922G>A	18.37:g.44543450C>T	ENSP00000468046:p.Glu308Lys	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57		Missense_Mutation	SNP							pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.E308K	ENST00000591973.2	37	c.922	CCDS59316.1	18																																																																																			-	NULL		0.632	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	protein_coding	OTTHUMT00000451070.1	C	XM_929328	-		44543450	-1	no_errors	ENST00000591973	ensembl	human	known	74_37	missense	SNP	0.002	T	T	44543450	C	T	44543450	3	4	112	1	0	0	0	0	1	0	0	0	15691	864	30	2	720	2	TCEB3CL	18	44543450	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1233110	44543450	33533798	894	8389											
CCDC68	80323	genome.wustl.edu	37	chr18	52586600	52586600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaatctccctctgaagatCctggcaactgggaatgcaaa	10	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:52586600C>T	ENST00000591504.1	-	9	965	c.691G>A	c.(691-693)Gat>Aat	p.D231N	CCDC68_ENST00000337363.4_Missense_Mutation_p.D231N|CCDC68_ENST00000432185.1_Missense_Mutation_p.D231N	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	231										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CTCTGAAGATCCTGGCAACTG	0.488																																																	0								ENSG00000166510						85	85	85					18																	52586600		2203	4300	6503	CCDC68	SO:0001583	missense	0			-	HGNC		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma associated antigen"					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.691G>A	18.37:g.52586600C>T	ENSP00000466690:p.Asp231Asn	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	7	70.83	B2R9I3	Missense_Mutation	SNP							superfamily_Prefoldin	p.D231N	ENST00000591504.1	37	c.691	CCDS11959.1	18	.	.	.	.	.	.	.	.	.	.	C	4.575	0.106738	0.08780	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.17528	2.27;2.27	5.65	1.83	0.25207	.	0.354569	0.24117	N	0.041386	T	0.07503	0.0189	N	0.19112	0.55	0.25545	N	0.98715	B	0.10296	0.003	B	0.13407	0.009	T	0.34502	-0.9826	10	0.12103	T	0.63	-16.0116	2.2819	0.04116	0.1578:0.5234:0.1525:0.1663	.	231	Q9H2F9	CCD68_HUMAN	N	231	ENSP00000337209:D231N;ENSP00000413406:D231N	ENSP00000337209:D231N	D	-	1	0	CCDC68	50737598	0.997000	0.39634	0.990000	0.47175	0.052000	0.14988	0.660000	0.25009	0.300000	0.22699	-0.169000	0.13324	GAT	-	superfamily_Prefoldin		0.488	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC68	protein_coding	OTTHUMT00000256006.1	C	NM_025214	-		52586600	-1	no_errors	ENST00000337363	ensembl	human	known	74_37	missense	SNP	0.992	T	T	52586600	C	T	52586600	3	4	112	1	0	0	0	0	1	0	0	0	2842	855	30	2	332	2	CCDC68	18	52586600	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	8043150	52586600	25490648	895	8390											
ZCCHC2	54877	genome.wustl.edu	37	chr18	60241712	60241712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctattccatcaaccttcCttccacacagtagtactccc	2	17	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:60241712C>T	ENST00000269499.5	+	13	2816	c.2398C>T	c.(2398-2400)Ctt>Ttt	p.L800F	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L479F	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	800						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATCAACCTTCCTTCCACACAG	0.488																																																	0								ENSG00000141664						107	106	107					18																	60241712		2029	4194	6223	ZCCHC2	SO:0001583	missense	0			-	HGNC	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2398C>T	18.37:g.60241712C>T	ENSP00000269499:p.Leu800Phe	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	20	57.45	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP							pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L800F	ENST00000269499.5	37	c.2398	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034239	0.75617	.	.	ENSG00000141664	ENST00000269499	T	0.47869	0.83	5.81	5.81	0.92471	.	0.085234	0.49916	D	0.000127	T	0.61211	0.2329	L	0.32530	0.975	0.53688	D	0.999975	D	0.76494	0.999	D	0.85130	0.997	T	0.58216	-0.7675	10	0.44086	T	0.13	-15.9495	20.0784	0.97758	0.0:1.0:0.0:0.0	.	800	Q9C0B9	ZCHC2_HUMAN	F	800	ENSP00000269499:L800F	ENSP00000269499:L800F	L	+	1	0	ZCCHC2	58392692	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.072000	0.57563	2.736000	0.93811	0.655000	0.94253	CTT	-	NULL		0.488	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	protein_coding	OTTHUMT00000450083.1	C	NM_017742	-		60241712	1	no_errors	ENST00000269499	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60241712	C	T	60241712	3	4	112	1	0	0	0	0	1	0	0	0	17594	681	24	2	2448	2	ZCCHC2	18	60241712	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7655112	60241712	17835536	896	8391											
DSEL	92126	genome.wustl.edu	37	chr18	65181527	65181527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaatcagcatgctttggtgGaggtaggtagtatgttgggt	15	3	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:65181527G>T	ENST00000310045.7	-	2	1822	c.349C>A	c.(349-351)Cca>Aca	p.P117T	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	107					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGCTTTGGTGGAGGTAGGTAG	0.418																																																	0								ENSG00000171451						119	103	109					18																	65181527		2203	4300	6503	DSEL	SO:0001583	missense	0			-	HGNC	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.349C>A	18.37:g.65181527G>T	ENSP00000310565:p.Pro117Thr	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	11	54.17	Q17RH1|Q6P5Z3	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.P117T	ENST00000310045.7	37	c.349	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862870	0.91511	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24350	1.86	4.79	4.79	0.61399	.	0.000000	0.85682	U	0.000000	T	0.53254	0.1785	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.58707	-0.7589	10	0.72032	D	0.01	-10.1721	18.2267	0.89920	0.0:0.0:1.0:0.0	.	107	Q8IZU8	DSEL_HUMAN	T	117;107	ENSP00000310565:P117T	ENSP00000310565:P117T	P	-	1	0	DSEL	63332507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.568000	0.98166	2.391000	0.81399	0.561000	0.74099	CCA	-	superfamily_Chondroitin_lyas		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	protein_coding	OTTHUMT00000256221.1	G	NM_032160	-		65181527	-1	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65181527	G	T	65181527	3	4	112	1	0	0	0	0	1	0	0	0	4777	1174	41	3	3323	3	DSEL	18	65181527	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4939815	65181527	12895721	897	8392											
DOK6	220164	genome.wustl.edu	37	chr18	67231792	67231792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaaggttagaaaaatttCcagatgaaaaggcagcttat	9	6	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:67231792C>T	ENST00000382713.5	+	2	326	c.136C>T	c.(136-138)Cca>Tca	p.P46S	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	46	PH.							p.P46S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGAAAAATTTCCAGATGAAAA	0.418																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000206052						68	69	69					18																	67231792		2203	4300	6503	DOK6	SO:0001583	missense	0			-	HGNC	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.136C>T	18.37:g.67231792C>T	ENSP00000372160:p.Pro46Ser	Somatic	0	63	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP							pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P46S	ENST00000382713.5	37	c.136	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569795	0.28003	.	.	ENSG00000206052	ENST00000382713	T	0.74632	-0.86	6.16	6.16	0.99307	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	N	0.10972	0.075	0.80722	D	1	B	0.09022	0.002	B	0.18871	0.023	T	0.53244	-0.8466	10	0.23302	T	0.38	-11.2878	19.848	0.96722	0.0:1.0:0.0:0.0	.	46	Q6PKX4	DOK6_HUMAN	S	46	ENSP00000372160:P46S	ENSP00000372160:P46S	P	+	1	0	DOK6	65382772	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.428000	0.80296	2.937000	0.99478	0.650000	0.86243	CCA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.418	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	protein_coding	OTTHUMT00000442969.1	C	NM_152721	-		67231792	1	no_errors	ENST00000382713	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67231792	C	T	67231792	3	4	112	1	0	0	0	0	1	0	0	0	4703	855	30	2	142	2	DOK6	18	67231792	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2050265	67231792	10845456	898	8393											
GALR1	2587	genome.wustl.edu	37	chr18	74963119	74963119	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctacgtggtgtgcaccttCgtcttcggctacctgctgcc	11	15	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:74963119C>T	ENST00000299727.3	+	1	615	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	205					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGTGCACCTTCGTCTTCGGCT	0.687																																																	0								ENSG00000166573						69	72	71					18																	74963119		2200	4295	6495	GALR1	SO:0001819	synonymous_variant	0			-	HGNC	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.615C>T	18.37:g.74963119C>T		Somatic	0	26	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	14	54.84	Q4VBL7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.F205	ENST00000299727.3	37	c.615	CCDS12012.1	18																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt		0.687	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR1	protein_coding	OTTHUMT00000256362.1	C		-		74963119	1	no_errors	ENST00000299727	ensembl	human	known	74_37	silent	SNP	1.000	T	T	74963119	C	T	74963119	2	4	112	1	0	0	0	0	0	0	0	1	6229	883	31	1		1	GALR1	18	74963119	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7731327	74963119	3114129	899	8394											
ADNP2	22850	genome.wustl.edu	37	chr18	77894164	77894164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcgctccagcgcagcctCcttgcttccatcttgctttg	8	16	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:77894164C>T	ENST00000262198.4	+	4	1323	c.868C>T	c.(868-870)Cct>Tct	p.P290S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	290	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGCGCAGCCTCCTTGCTTCCA	0.587																																																	0								ENSG00000101544						72	75	74					18																	77894164		2203	4300	6503	ADNP2	SO:0001583	missense	0			-	HGNC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.868C>T	18.37:g.77894164C>T	ENSP00000262198:p.Pro290Ser	Somatic	0	26	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P290S	ENST00000262198.4	37	c.868	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181324	0.06380	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.27	0.0683	0.14369	.	0.565671	0.17105	N	0.186838	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.13045	-1.0524	8	.	.	.	-11.9511	2.2837	0.04121	0.1293:0.2756:0.1274:0.4678	.	290	Q6IQ32	ADNP2_HUMAN	S	290	.	.	P	+	1	0	ADNP2	75995155	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.241000	0.08940	0.109000	0.17891	-0.145000	0.13849	CCT	-	NULL		0.587	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	C	NM_014913	-		77894164	1	no_errors	ENST00000262198	ensembl	human	known	74_37	missense	SNP	0.000	T	T	77894164	C	T	77894164	3	4	112	1	0	0	0	0	1	0	0	0	324	855	30	2	878	2	ADNP2	18	77894164	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2931045	77894164	183084	900	8395											
ABCA7	10347	genome.wustl.edu	37	chr19	1048895	1048895	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgcccctccccgcaggCcagtacgggatccctgaacc	10	21	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:1048895C>T	ENST00000263094.6	+	17	2502	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	ABCA7_ENST00000435683.2_Splice_Site_p.G619G|ABCA7_ENST00000433129.1_Splice_Site_p.G757G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	757					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		TCCCCGCAGGCCAGTACGGGA	0.572																																																	0								ENSG00000064687						25	25	25					19																	1048895		2196	4296	6492	ABCA7	SO:0001630	splice_region_variant	0			-	HGNC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2270-1C>T	19.37:g.1048895C>T		Somatic	0	153	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	45	69.59	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G757	ENST00000263094.6	37	c.2271	CCDS12055.1	19																																																																																			-	NULL		0.572	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	protein_coding	OTTHUMT00000394993.1	C	NM_019112	-	Silent	1048895	1	no_errors	ENST00000263094	ensembl	human	known	74_37	silent	SNP	0.998	T	T	1048895	C	T	1048895	5	4	112	1	0	0	0	0	0	0	1	0	37	753	26	2	2333	2	ABCA7	19	1048895	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		1048895	58080088	901	8396											
STK11	6794	genome.wustl.edu	37	chr19	1220483	1220483	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accggtggcaccctcaaaatCtccgacctgggcgtggccga	12	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:1220483C>T	ENST00000326873.7	+	4	1749	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAAAATCTCCGACCTGG	0.677		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	27	Whole gene deletion(20)|Deletion - Frameshift(4)|Unknown(3)	cervix(14)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)						ENSG00000118046						38	44	42					19																	1220483		2031	4171	6202	STK11	SO:0001819	synonymous_variant	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	-	HGNC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.576C>T	19.37:g.1220483C>T		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	15	79.45	B2RBX7|E7EW76	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I192	ENST00000326873.7	37	c.576	CCDS45896.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	protein_coding	OTTHUMT00000449839.3	C	NM_000455	-		1220483	1	no_errors	ENST00000326873	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1220483	C	T	1220483	2	4	112	1	0	0	0	0	0	0	0	1	15294	903	32	2		2	STK11	19	1220483	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	171588	1220483	57908500	902	8397											
ARRDC5	645432	genome.wustl.edu	37	chr19	4891307	4891307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttggtggtgttgaagcgGgtcacgggggtgttggcctc	18	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:4891307G>A	ENST00000381781.2	-	3	779	c.780C>T	c.(778-780)acC>acT	p.T260T	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	260										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGTTGAAGCGGGTCACGGGGG	0.622																																																	0								ENSG00000205784						80	93	89					19																	4891307		2110	4214	6324	ARRDC5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.780C>T	19.37:g.4891307G>A		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	8	72.41		Silent	SNP							pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.T260	ENST00000381781.2	37	c.780	CCDS45929.1	19																																																																																			-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.622	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	protein_coding	OTTHUMT00000450443.1	G	XM_292803	-		4891307	-1	no_errors	ENST00000381781	ensembl	human	known	74_37	silent	SNP	0.000	A	A	4891307	G	A	4891307	2	1	112	1	0	0	0	0	0	0	0	1	986	1219	43	2		2	ARRDC5	19	4891307	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3670824	4891307	54237676	903	8398											
MAP2K7	5609	genome.wustl.edu	37	chr19	7975656	7975656	+	Missense_Mutation	SNP	C	C	T													agcggatgcagggccccatcCccgagcgcattctgggcaag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:7975656C>T	ENST00000397979.3	+	6	697	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	MAP2K7_ENST00000397983.3_Missense_Mutation_p.P231S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P215S|MAP2K7_ENST00000545011.1_Missense_Mutation_p.P257S|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|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)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGGCCCCATCCCCGAGCGCAT	0.667																																																	0								ENSG00000076984						12	14	13					19																	7975656		2113	4212	6325	MAP2K7	SO:0001583	missense	0			-	HGNC	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.643C>T	19.37:g.7975656C>T	ENSP00000381066:p.Pro215Ser	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	8	84.62	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P257S	ENST00000397979.3	37	c.769	CCDS42491.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.265279	0.95399	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.11	5.11	0.69529	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	0.29126	0.0724	L	0.37561	1.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.01401	-1.1364	10	0.87932	D	0	-3.9314	16.4406	0.83900	0.0:1.0:0.0:0.0	.	215;215	O14733-4;O14733	.;MP2K7_HUMAN	S	215;231;257;231;215	ENSP00000381068:P215S;ENSP00000381070:P231S;ENSP00000443946:P257S;ENSP00000381066:P215S	ENSP00000381066:P215S	P	+	1	0	MAP2K7	7881656	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	5.750000	0.68712	2.555000	0.86185	0.555000	0.69702	CCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.667	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	protein_coding	OTTHUMT00000267980.1	C		-		7975656	1	no_errors	ENST00000545011	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7975656	C	T	7975656	3	4	112	1	0	0	0	0	1	0	0	0	9244	623	22	2	665	2	MAP2K7	19	7975656	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3084349	7975656	51153327	904	8399	139	2									
MAP2K7	5609	genome.wustl.edu	37	chr19	7975657	7975657	+	Missense_Mutation	SNP	C	C	T													gcggatgcagggccccatccCcgagcgcattctgggcaaga							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:7975657C>T	ENST00000397979.3	+	6	698	c.644C>T	c.(643-645)cCc>cTc	p.P215L	MAP2K7_ENST00000397983.3_Missense_Mutation_p.P231L|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P215L|MAP2K7_ENST00000545011.1_Missense_Mutation_p.P257L|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|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)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGCCCCATCCCCGAGCGCATT	0.662																																																	0								ENSG00000076984						12	14	13					19																	7975657		2115	4209	6324	MAP2K7	SO:0001583	missense	0			-	HGNC	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.644C>T	19.37:g.7975657C>T	ENSP00000381066:p.Pro215Leu	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	7	86.79	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P257L	ENST00000397979.3	37	c.770	CCDS42491.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.293477	0.95546	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.11	5.11	0.69529	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	0.41442	0.1159	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.20107	-1.0285	10	0.62326	D	0.03	-3.9314	16.4406	0.83900	0.0:1.0:0.0:0.0	.	215;215	O14733-4;O14733	.;MP2K7_HUMAN	L	215;231;257;231;215	ENSP00000381068:P215L;ENSP00000381070:P231L;ENSP00000443946:P257L;ENSP00000381066:P215L	ENSP00000381066:P215L	P	+	2	0	MAP2K7	7881657	1.000000	0.71417	0.952000	0.39060	0.980000	0.70556	7.483000	0.81158	2.555000	0.86185	0.555000	0.69702	CCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	protein_coding	OTTHUMT00000267980.1	C		-		7975657	1	no_errors	ENST00000545011	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7975657	C	T	7975657	3	4	112	1	0	0	0	0	1	0	0	0	9244	623	22	2	666	2	MAP2K7	19	7975657	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	7975657	51153326	905	8400	139	2									
HNRNPM	4670	genome.wustl.edu	37	chr19	8536305	8536305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggaatgggaaacataggtCccgcaggtgagaatgacagt	14	7	0	2	rs558277951		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:8536305C>T	ENST00000325495.4	+	10	1032	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	HNRNPM_ENST00000348943.3_Missense_Mutation_p.P292S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	331					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAACATAGGTCCCGCAGGTGA	0.458																																																	0								ENSG00000099783						93	70	78					19																	8536305		2203	4300	6503	HNRNPM	SO:0001583	missense	0			-	HGNC	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.991C>T	19.37:g.8536305C>T	ENSP00000325376:p.Pro331Ser	Somatic	0	96	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	33	69.16	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP							pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.P331S	ENST00000325495.4	37	c.991	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474997	0.63737	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.21031	2.03;2.36	5.32	5.32	0.75619	.	0.046320	0.85682	D	0.000000	T	0.45915	0.1366	M	0.64170	1.965	0.80722	D	1	D;P;D;P;P	0.89917	0.983;0.906;1.0;0.75;0.518	D;P;D;B;B	0.97110	0.91;0.521;1.0;0.177;0.115	T	0.33574	-0.9863	10	0.59425	D	0.04	.	17.9246	0.88979	0.0:1.0:0.0:0.0	.	171;331;292;292;231	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	S	331;292;231	ENSP00000325376:P331S;ENSP00000325732:P292S	ENSP00000325376:P331S	P	+	1	0	HNRNPM	8442305	0.999000	0.42202	0.791000	0.31998	0.194000	0.23727	4.926000	0.63433	2.634000	0.89283	0.655000	0.94253	CCC	-	NULL		0.458	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	protein_coding	OTTHUMT00000460894.1	C		-		8536305	1	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	SNP	0.997	T	T	8536305	C	T	8536305	3	4	112	1	0	0	0	0	1	0	0	0	7273	855	30	2	1029	2	HNRNPM	19	8536305	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	560648	8536305	50592678	906	8401											
MUC16	94025	genome.wustl.edu	37	chr19	9050056	9050056	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaaaacatatggggttgtGatcatcatttctgtggggat	14	4	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:9050056G>A	ENST00000397910.4	-	5	31778	c.31575C>T	c.(31573-31575)atC>atT	p.I10525I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10527	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						ATGGGGTTGTGATCATCATTT	0.507																																																	0								ENSG00000181143						490	459	469					19																	9050056		2103	4215	6318	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.31575C>T	19.37:g.9050056G>A		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	15	72.73	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I10525	ENST00000397910.4	37	c.31575	CCDS54212.1	19																																																																																			-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9050056	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	A	A	9050056	G	A	9050056	2	1	112	1	0	0	0	0	0	0	0	1	9975	1280	45	2		2	MUC16	19	9050056	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	513751	9050056	50078927	907	8402											
MUC16	94025	genome.wustl.edu	37	chr19	9070805	9070805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtgaagagcctggtgatCattcctgtggagatgtcggg	17	6	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:9070805C>T	ENST00000397910.4	-	3	16844	c.16641G>A	c.(16639-16641)atG>atA	p.M5547I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5549	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						GCCTGGTGATCATTCCTGTGG	0.502																																																	0								ENSG00000181143						222	204	209					19																	9070805		1999	4149	6148	MUC16	SO:0001583	missense	0			-	HGNC	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.16641G>A	19.37:g.9070805C>T	ENSP00000381008:p.Met5547Ile	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	13	71.11	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.M5547I	ENST00000397910.4	37	c.16641	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	2.494	-0.316665	0.05386	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	1.45	-2.9	0.05648	.	.	.	.	.	T	0.00906	0.0030	N	0.01874	-0.695	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.47195	-0.9136	8	0.87932	D	0	.	0.8537	0.01178	0.1854:0.2913:0.3333:0.19	.	5547	B5ME49	.	I	5547	ENSP00000381008:M5547I	ENSP00000381008:M5547I	M	-	3	0	MUC16	8931805	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.584000	0.00904	-1.159000	0.02807	0.299000	0.19835	ATG	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9070805	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9070805	C	T	9070805	3	4	112	1	0	0	0	0	1	0	0	0	9975	826	29	2	27210	2	MUC16	19	9070805	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	20749	9070805	50058178	908	8403											
OR7D4	125958	genome.wustl.edu	37	chr19	9325175	9325175	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggccatcacggccagtagGaaagtatccattccagcaaa	9	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:9325175G>A	ENST00000308682.2	-	1	367	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	113						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						CGGCCAGTAGGAAAGTATCCA	0.527																																																	0								ENSG00000174667						86	78	81					19																	9325175		2203	4300	6503	OR7D4	SO:0001819	synonymous_variant	0			-	HGNC		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.339C>T	19.37:g.9325175G>A		Somatic	0	98	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	15	77.27	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F113	ENST00000308682.2	37	c.339	CCDS32901.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	G		-		9325175	-1	no_errors	ENST00000308682	ensembl	human	known	74_37	silent	SNP	0.000	A	A	9325175	G	A	9325175	2	1	112	1	0	0	0	0	0	0	0	1	11222	1165	41	2		2	OR7D4	19	9325175	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	254370	9325175	49803808	909	8404											
COL5A3	50509	genome.wustl.edu	37	chr19	10114285	10114285	+	Missense_Mutation	SNP	C	C	T													tggacttgaggtccaaatttCcttgttctttttcctgccct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:10114285C>T	ENST00000264828.3	-	6	890	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	269	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)			GTCCAAATTTCCTTGTTCTTT	0.567											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000080573						262	194	217					19																	10114285		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.805G>A	19.37:g.10114285C>T	ENSP00000264828:p.Glu269Lys	Somatic	0	56	0	662	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	18	72.73	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E269K	ENST00000264828.3	37	c.805	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	12.26	1.886061	0.33348	.	.	ENSG00000080573	ENST00000264828	D	0.89810	-2.57	3.99	3.99	0.46301	.	1.743750	0.03561	U	0.227132	T	0.78521	0.4296	N	0.12887	0.27	0.30804	N	0.73957	B	0.33694	0.421	B	0.24701	0.055	T	0.66670	-0.5865	10	0.09084	T	0.74	.	11.8177	0.52220	0.0:1.0:0.0:0.0	.	269	P25940	CO5A3_HUMAN	K	269	ENSP00000264828:E269K	ENSP00000264828:E269K	E	-	1	0	COL5A3	9975285	0.034000	0.19679	0.923000	0.36655	0.342000	0.28953	1.414000	0.34736	2.220000	0.72140	0.456000	0.33151	GAA	-	NULL		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719	-		10114285	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.970	T	T	10114285	C	T	10114285	3	4	112	1	0	0	0	0	1	0	0	0	3700	864	30	2	4680	2	COL5A3	19	10114285	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	789110	10114285	49014698	910	8405	140	2									
COL5A3	50509	genome.wustl.edu	37	chr19	10114286	10114286	+	Silent	SNP	C	C	T													ggacttgaggtccaaatttcCttgttctttttcctgccctt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:10114286C>T	ENST00000264828.3	-	6	889	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	268	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)	p.K268K(1)		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)			TCCAAATTTCCTTGTTCTTTT	0.572											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	endometrium(1)						ENSG00000080573						263	196	219					19																	10114286		2203	4300	6503	COL5A3	SO:0001819	synonymous_variant	0			-	HGNC	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.804G>A	19.37:g.10114286C>T		Somatic	0	59	0	662	0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	18	72.73	Q9NZQ6	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K268	ENST00000264828.3	37	c.804	CCDS12222.1	19																																																																																			-	NULL		0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719	-		10114286	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	SNP	0.994	T	T	10114286	C	T	10114286	2	4	112	1	0	0	0	0	0	0	0	1	3700	680	24	2		2	COL5A3	19	10114286	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	10114286	49014697	911	8406	140	2									
ZNF791	163049	genome.wustl.edu	37	chr19	12734576	12734576	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtgggctctgctggcTccttcacagaagaaactcta	12	10	3	2	rs372208322		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:12734576T>G	ENST00000343325.4	+	2	228	c.66T>G	c.(64-66)gcT>gcG	p.A22A	ZNF791_ENST00000458122.3_5'UTR|ZNF791_ENST00000446165.1_Silent_p.A22A|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	22	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)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CTCTGCTGGCTCCTTCACAGA	0.418																																																	0								ENSG00000173875						94	95	94					19																	12734576		2203	4300	6503	ZNF791	SO:0001819	synonymous_variant	0			-	HGNC	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.66T>G	19.37:g.12734576T>G		Somatic	0	45	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	B7Z586|Q8NC99	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A22	ENST00000343325.4	37	c.66	CCDS12273.1	19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.418	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	protein_coding	OTTHUMT00000344140.1	T	NM_153358	-		12734576	1	no_errors	ENST00000343325	ensembl	human	known	74_37	silent	SNP	0.638	G	G	12734576	T	G	12734576	2	3	112	1	0	0	0	0	0	0	0	1	18170	1538	54	5		5	ZNF791	19	12734576	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	2620290	12734576	46394407	912	8407											
GIPC1	10755	genome.wustl.edu	37	chr19	14593636	14593636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggggccgcagggctggGggaggggggggcaagcccat	24	9	0	0	rs541900200		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:14593636G>A	ENST00000393033.4	-	4	422	c.153C>T	c.(151-153)ccC>ccT	p.P51P	GIPC1_ENST00000345425.2_Silent_p.P51P|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000586027.1_Silent_p.P51P	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	51	Poly-Pro.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCAGGGCTGGGGGAGGGGGGG	0.721																																					Pancreas(33;78 923 2910 41023 52850)												0								ENSG00000123159						7	7	7					19																	14593636		2158	4219	6377	GIPC1	SO:0001819	synonymous_variant	0			-	HGNC	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.153C>T	19.37:g.14593636G>A		Somatic	0	9	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67	A8K4I3|A8MZG3|Q9BTC9	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.P51	ENST00000393033.4	37	c.153	CCDS12310.1	19																																																																																			-	pirsf_UCP038083_PDZ		0.721	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	protein_coding	OTTHUMT00000460239.2	G		-		14593636	-1	no_errors	ENST00000345425	ensembl	human	known	74_37	silent	SNP	0.979	A	A	14593636	G	A	14593636	2	1	112	1	0	0	0	0	0	0	0	1	6394	1219	43	2		2	GIPC1	19	14593636	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1859060	14593636	44535347	913	8408											
ILVBL	10994	genome.wustl.edu	37	chr19	15230044	15230044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggatgtggagggggtgGttgcggcctaacagcccccg	17	12	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:15230044G>A	ENST00000263383.3	-	9	1123	c.984C>T	c.(982-984)aaC>aaT	p.N328N	ILVBL_ENST00000534378.1_Silent_p.N221N|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	328						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGAGGGGGTGGTTGCGGCCTA	0.637																																																	0								ENSG00000105135						62	60	60					19																	15230044		2203	4300	6503	ILVBL	SO:0001819	synonymous_variant	0			-	HGNC	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.984C>T	19.37:g.15230044G>A		Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	33	67.00	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP							pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.N328	ENST00000263383.3	37	c.984	CCDS12325.1	19																																																																																			-	pfam_Thiamin_PyroP_enz_cen_dom		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	protein_coding	OTTHUMT00000385439.1	G	NM_006844	-		15230044	-1	no_errors	ENST00000263383	ensembl	human	known	74_37	silent	SNP	1.000	A	A	15230044	G	A	15230044	2	1	112	1	0	0	0	0	0	0	0	1	7717	1252	44	2		2	ILVBL	19	15230044	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	636408	15230044	43898939	914	8409											
AKAP8	10270	genome.wustl.edu	37	chr19	15483804	15483804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacggaggtggccggctgGgggagggccctcccaggccc	21	13	0	0	rs374389542	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:15483804G>A	ENST00000269701.2	-	5	779	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	240					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGGCCGGCTGGGGGAGGGCCC	0.701																																					GBM(190;1671 2163 3274 27186 30476)												0								ENSG00000105127						11	13	12					19																	15483804		2181	4288	6469	AKAP8	SO:0001583	missense	0			-	HGNC	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.719C>T	19.37:g.15483804G>A	ENSP00000269701:p.Pro240Leu	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	15	72.22		Missense_Mutation	SNP							pfam_AKAP95	p.P240L	ENST00000269701.2	37	c.719	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	g	9.804	1.181301	0.21787	.	.	ENSG00000105127	ENST00000269701	T	0.44482	0.92	4.71	2.48	0.30137	.	0.915529	0.09225	N	0.831388	T	0.36496	0.0969	L	0.51422	1.61	0.21020	N	0.999806	B;B	0.30068	0.267;0.267	B;B	0.25140	0.058;0.058	T	0.29579	-1.0007	10	0.62326	D	0.03	-3.1375	8.6921	0.34273	0.0:0.1836:0.6539:0.1625	.	240;240	Q8NE02;O43823	.;AKAP8_HUMAN	L	240	ENSP00000269701:P240L	ENSP00000269701:P240L	P	-	2	0	AKAP8	15344804	0.980000	0.34600	0.180000	0.23079	0.202000	0.24057	1.718000	0.38001	0.661000	0.30985	0.645000	0.84053	CCC	-	NULL		0.701	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	protein_coding	OTTHUMT00000461293.3	G	NM_005858	-		15483804	-1	no_errors	ENST00000269701	ensembl	human	known	74_37	missense	SNP	0.092	A	A	15483804	G	A	15483804	3	1	112	1	0	0	0	0	1	0	0	0	457	1232	43	2	1399	2	AKAP8	19	15483804	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	253760	15483804	43645179	915	8410											
CYP4F22	126410	genome.wustl.edu	37	chr19	15636237	15636237	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtccacccttctcctcttCctgctcttcttcctgttccg	5	18	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:15636237C>T	ENST00000269703.3	+	3	289	c.90C>T	c.(88-90)ttC>ttT	p.F30F	CYP4F22_ENST00000601005.2_Silent_p.F30F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	30						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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 (GO:0016705)	p.F30L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TTCTCCTCTTCCTGCTCTTCT	0.647																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000171954						152	106	122					19																	15636237		2203	4300	6503	CYP4F22	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.90C>T	19.37:g.15636237C>T		Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	6	77.78	Q8N8H4	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F30	ENST00000269703.3	37	c.90	CCDS12331.1	19																																																																																			-	NULL		0.647	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	protein_coding	OTTHUMT00000461338.2	C	NM_173483	-		15636237	1	no_errors	ENST00000269703	ensembl	human	known	74_37	silent	SNP	0.000	T	T	15636237	C	T	15636237	2	4	112	1	0	0	0	0	0	0	0	1	4191	854	30	2		2	CYP4F22	19	15636237	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	152433	15636237	43492746	916	8411											
COPE	11316	genome.wustl.edu	37	chr19	19021843	19021843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggagctcaggggccgagGagggcttgatctcatccagg	16	11	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:19021843G>A	ENST00000262812.4	-	3	275	c.227C>T	c.(226-228)tCc>tTc	p.S76F	AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000351079.4_Missense_Mutation_p.S76F|COPE_ENST00000600932.1_Missense_Mutation_p.S76F|COPE_ENST00000349893.4_Missense_Mutation_p.S76F|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	76					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						AGGGGCCGAGGAGGGCTTGAT	0.632																																																	0								ENSG00000105669						160	132	141					19																	19021843		2203	4300	6503	COPE	SO:0001583	missense	0			-	HGNC	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.227C>T	19.37:g.19021843G>A	ENSP00000262812:p.Ser76Phe	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	14	53.33	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP							pfam_Coatomer_esu,pirsf_Coatomer_esu	p.S76F	ENST00000262812.4	37	c.227	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781119	0.70222	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.49720	0.77;0.77;0.77	4.8	2.4	0.29515	.	0.235803	0.40554	N	0.001066	T	0.60405	0.2266	M	0.79475	2.455	0.39193	D	0.962993	P;P;P;P	0.46064	0.734;0.872;0.752;0.696	P;P;P;P	0.55345	0.609;0.707;0.774;0.609	T	0.68303	-0.5444	10	0.66056	D	0.02	-27.5879	11.111	0.48232	0.0:0.0:0.643:0.357	.	76;76;76;76	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	F	76;76;76;75	ENSP00000262812:S76F;ENSP00000345674:S76F;ENSP00000343134:S76F	ENSP00000262812:S76F	S	-	2	0	COPE	18882843	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	1.919000	0.40015	2.215000	0.71742	0.514000	0.50259	TCC	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.632	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	protein_coding	OTTHUMT00000464801.1	G	NM_007263	-		19021843	-1	no_errors	ENST00000262812	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19021843	G	A	19021843	3	1	112	1	0	0	0	0	1	0	0	0	3732	1174	41	2	731	2	COPE	19	19021843	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3385606	19021843	40107140	917	8412											
CILP2	148113	genome.wustl.edu	37	chr19	19655601	19655601	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctacgccaacgacaagttCacccccagcgagcaggtgga	11	15	1	0	rs368728030		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:19655601C>T	ENST00000291495.5	+	8	2332	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	CILP2_ENST00000586018.1_Silent_p.F755F	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	749						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				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						ACGACAAGTTCACCCCCAGCG	0.682																																																	0								ENSG00000160161						17	19	18					19																	19655601		2190	4277	6467	CILP2	SO:0001819	synonymous_variant	0			-	HGNC	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.2247C>T	19.37:g.19655601C>T		Somatic	0	8	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	1	87.50	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.F749	ENST00000291495.5	37	c.2247	CCDS12405.1	19																																																																																			-	NULL		0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	C	NM_153221	-		19655601	1	no_errors	ENST00000291495	ensembl	human	known	74_37	silent	SNP	0.619	T	T	19655601	C	T	19655601	2	4	112	1	0	0	0	0	0	0	0	1	3432	825	29	2		2	CILP2	19	19655601	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	633758	19655601	39473382	918	8413											
ZNF676	163223	genome.wustl.edu	37	chr19	22362861	22362861	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttctctccagtatgaattCtcttgtgtctagtaaggctt	8	8	3	1	rs201300029	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:22362861C>T	ENST00000397121.2	-	3	1975	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	553					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.R553I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000196109						64	67	66					19																	22362861		2121	4254	6375	ZNF676	SO:0001583	missense	0			-	HGNC	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1658G>A	19.37:g.22362861C>T	ENSP00000380310:p.Arg553Lys	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	9	66.67	A8MVX5	Missense_Mutation	SNP							pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R553K	ENST00000397121.2	37	c.1658	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540247	0.04053	.	.	ENSG00000196109	ENST00000397121	T	0.18338	2.22	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.04387	-0.21	0.21675	N	0.999592	B	0.30664	0.289	B	0.28991	0.097	T	0.28933	-1.0028	9	0.30078	T	0.28	.	7.768	0.28991	0.3982:0.6018:0.0:0.0	.	553	Q8N7Q3	ZN676_HUMAN	K	553	ENSP00000380310:R553K	ENSP00000380310:R553K	R	-	2	0	ZNF676	22154701	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.989000	0.03736	-2.950000	0.00293	-2.994000	0.00078	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	C	NM_001001411	-		22362861	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	SNP	0.885	T	T	22362861	C	T	22362861	3	4	112	1	0	0	0	0	1	0	0	0	18090	913	32	2	112	2	ZNF676	19	22362861	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2707260	22362861	36766122	919	8414											
SLC7A9	11136	genome.wustl.edu	37	chr19	33333197	33333197	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgagtttatgtcaccaggGatgatataaatcgttgctat	9	6	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:33333197G>A	ENST00000023064.4	-	11	1292	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	SLC7A9_ENST00000587772.1_Silent_p.I367I|SLC7A9_ENST00000590341.1_Silent_p.I367I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	367					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGTCACCAGGGATGATATAAA	0.393																																					GBM(181;1335 2108 9644 44178 46689)												0								ENSG00000021488						102	98	99					19																	33333197		2203	4300	6503	SLC7A9	SO:0001819	synonymous_variant	0			-	HGNC	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1101C>T	19.37:g.33333197G>A		Somatic	0	76	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	47	42.68	B2R9A6	Silent	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.I367	ENST00000023064.4	37	c.1101	CCDS12425.1	19																																																																																			-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.393	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	G		-		33333197	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	silent	SNP	0.978	A	A	33333197	G	A	33333197	2	1	112	1	0	0	0	0	0	0	0	1	14713	1164	41	2		2	SLC7A9	19	33333197	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10970336	33333197	25795786	920	8415											
GPATCH1	55094	genome.wustl.edu	37	chr19	33608775	33608775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgaaggagaagggagCcgcccatccatggacttatt	13	10	0	2	rs147838171		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:33608775C>T	ENST00000170564.2	+	16	2555	c.2241C>T	c.(2239-2241)agC>agT	p.S747S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	747					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGAAGGGAGCCGCCCATCCA	0.502																																					Pancreas(67;88 1713 4567 18227)												0								ENSG00000076650						106	98	101					19																	33608775		2203	4300	6503	GPATCH1	SO:0001819	synonymous_variant	0			-	HGNC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2241C>T	19.37:g.33608775C>T		Somatic	0	29	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	21	46.15	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP							pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.S747	ENST00000170564.2	37	c.2241	CCDS12428.1	19																																																																																			-	NULL		0.502	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	protein_coding	OTTHUMT00000450834.1	C	NM_018025	-		33608775	1	no_errors	ENST00000170564	ensembl	human	known	74_37	silent	SNP	0.903	T	T	33608775	C	T	33608775	2	4	112	1	0	0	0	0	0	0	0	1	6592	738	26	2		2	GPATCH1	19	33608775	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	275578	33608775	25520208	921	8416											
PDCD2L	84306	genome.wustl.edu	37	chr19	34900200	34900200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgccaaagacgtagaCtggactgctcggctccaaga	12	11	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:34900200C>T	ENST00000246535.3	+	4	518	c.471C>T	c.(469-471)gaC>gaT	p.D157D	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	157					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)			AAGACGTAGACTGGACTGCTC	0.577																																																	0								ENSG00000126249						132	117	122					19																	34900200		2203	4300	6503	PDCD2L	SO:0001819	synonymous_variant	0			-	HGNC	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.471C>T	19.37:g.34900200C>T		Somatic	0	61	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25		Silent	SNP							pfam_PDCD2_C	p.D157	ENST00000246535.3	37	c.471	CCDS12438.1	19																																																																																			-	NULL		0.577	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	protein_coding	OTTHUMT00000459251.3	C	NM_032346	-		34900200	1	no_errors	ENST00000246535	ensembl	human	known	74_37	silent	SNP	0.999	T	T	34900200	C	T	34900200	2	4	112	1	0	0	0	0	0	0	0	1	11622	564	20	2		2	PDCD2L	19	34900200	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1291425	34900200	24228783	922	8417											
FFAR3	2865	genome.wustl.edu	37	chr19	35850340	35850340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctagccatcctcctgcCcgtgcggctggagatggctg	13	15	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:35850340C>T	ENST00000327809.4	+	2	749	c.548C>T	c.(547-549)cCc>cTc	p.P183L	FFAR3_ENST00000594310.1_Missense_Mutation_p.P183L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	183					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCCTCCTGCCCGTGCGGCTG	0.612																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0								ENSG00000185897						44	35	38					19																	35850340		2201	4298	6499	FFAR3	SO:0001583	missense	0			-	HGNC	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.548C>T	19.37:g.35850340C>T	ENSP00000328230:p.Pro183Leu	Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	B2RWM8|Q14CM7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.P183L	ENST00000327809.4	37	c.548	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722053	0.48728	.	.	ENSG00000185897	ENST00000327809	T	0.33865	1.39	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.116385	0.64402	U	0.000020	T	0.59335	0.2186	M	0.80616	2.505	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.57946	-0.7723	10	0.11485	T	0.65	-24.3163	16.0595	0.80830	0.0:1.0:0.0:0.0	.	183	O14843	FFAR3_HUMAN	L	183	ENSP00000328230:P183L	ENSP00000328230:P183L	P	+	2	0	FFAR3	40542180	1.000000	0.71417	0.953000	0.39169	0.103000	0.19146	4.545000	0.60698	2.385000	0.81259	0.455000	0.32223	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.612	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	protein_coding	OTTHUMT00000418873.2	C	NM_005304	-		35850340	1	no_errors	ENST00000327809	ensembl	human	known	74_37	missense	SNP	0.997	T	T	35850340	C	T	35850340	3	4	112	1	0	0	0	0	1	0	0	0	5831	623	22	2	550	2	FFAR3	19	35850340	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	950140	35850340	23278643	923	8418											
MLL4	9757	genome.wustl.edu	37	chr19	36212555	36212555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgccgtcaccacagcagaTgcctcccctggaaaaagccc	8	18	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36212555T>C	ENST00000222270.7	+	3	2306	c.2306T>C	c.(2305-2307)aTg>aCg	p.M769T	KMT2B_ENST00000420124.1_Missense_Mutation_p.M769T|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	769	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCACAGCAGATGCCTCCCCTG	0.632																																																	0								ENSG00000272333						26	35	32					19																	36212555		2120	4252	6372	KMT2B	SO:0001583	missense	0			-	Uniprot_gn	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2306T>C	19.37:g.36212555T>C	ENSP00000222270:p.Met769Thr	Somatic	0	181	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	72	50.00	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP							pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.M769T	ENST00000222270.7	37	c.2306	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	T	2.458	-0.324840	0.05350	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82081	-1.57;-1.57	4.99	-0.245	0.13027	.	1.240300	0.06175	N	0.678423	T	0.58666	0.2138	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	10	0.10902	T	0.67	.	3.7473	0.08552	0.3044:0.5075:0.0:0.1881	.	769	Q9UMN6	MLL4_HUMAN	T	769	ENSP00000222270:M769T;ENSP00000398837:M769T	ENSP00000222270:M769T	M	+	2	0	AD000671.1	40904395	0.000000	0.05858	0.011000	0.14972	0.311000	0.27955	-0.462000	0.06704	-0.092000	0.12417	0.443000	0.29094	ATG	-	pirsf_MeTrfase_trithorax		0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	protein_coding		T	NM_014727	-		36212555	1	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	SNP	0.002	C	C	36212555	T	C	36212555	3	2	112	1	0	0	0	0	1	0	0	0	9625	1464	51	5	2316	5	MLL4	19	36212555	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	362215	36212555	22916428	924	8419											
MLL4	9757	genome.wustl.edu	37	chr19	36214019	36214019	+	Frame_Shift_Del	DEL	C	C	-													gagggaccctggcccacacaCcccggcgctcactgccctcc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36214019delC	ENST00000222270.7	+	6	2845	c.2845delC	c.(2845-2847)cccfs	p.P949fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.P949fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	949					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCCCACACACCCCGGCGCTC	0.657																																																	0								ENSG00000272333						44	54	51					19																	36214019		2099	4216	6315	KMT2B	SO:0001589	frameshift_variant	0				Uniprot_gn	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2845delC	19.37:g.36214019delC	ENSP00000222270:p.Pro949fs	Somatic	0	124	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	101	19.84	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL							pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R950fs	ENST00000222270.7	37	c.2845	CCDS46055.1	19																																																																																			-	pirsf_MeTrfase_trithorax		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	protein_coding		C	NM_014727			36214019	1	no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_del	DEL	0.167	-	-	36214019	C	-	36214019	7	5	112	1	0	1	0	1	0	0	0	0	9625	507	18	0	2867	0	MLL4	19	36214019	Frame_Shift_Del	DEL	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1464	36214019	22914964	925	8420	141	2									
MLL4	9757	genome.wustl.edu	37	chr19	36214021	36214021	+	Silent	SNP	C	C	A													gggaccctggcccacacaccCcggcgctcactgccctccca							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36214021C>A	ENST00000222270.7	+	6	2847	c.2847C>A	c.(2845-2847)ccC>ccA	p.P949P	KMT2B_ENST00000420124.1_Silent_p.P949P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	949					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCACACACCCCGGCGCTCAC	0.657																																																	0								ENSG00000272333						44	53	50					19																	36214021		2092	4215	6307	KMT2B	SO:0001819	synonymous_variant	0			-	Uniprot_gn	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2847C>A	19.37:g.36214021C>A		Somatic	0	121	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	100	20.00	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP							pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P949	ENST00000222270.7	37	c.2847	CCDS46055.1	19																																																																																			-	pirsf_MeTrfase_trithorax		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	protein_coding		C	NM_014727	-		36214021	1	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	SNP	0.055	A	A	36214021	C	A	36214021	2	1	112	1	0	0	0	0	0	0	0	1	9625	610	22	3		3	MLL4	19	36214021	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2	36214021	22914962	926	8421	141	2									
MLL4	9757	genome.wustl.edu	37	chr19	36219715	36219715	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttgcccccatccctggatCatgtctatgcgcagtggaga	11	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36219715C>T	ENST00000222270.7	+	20	4612	c.4612C>T	c.(4612-4614)Cat>Tat	p.H1538Y	KMT2B_ENST00000420124.1_Missense_Mutation_p.H1538Y|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1538					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATCCCTGGATCATGTCTATGC	0.617																																																	0								ENSG00000272333						54	59	57					19																	36219715		2063	4196	6259	KMT2B	SO:0001583	missense	0			-	Uniprot_gn	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4612C>T	19.37:g.36219715C>T	ENSP00000222270:p.His1538Tyr	Somatic	0	52	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP							pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.H1538Y	ENST00000222270.7	37	c.4612	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714987	0.48622	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.96365	-3.99;-3.99	4.91	4.91	0.64330	.	0.000000	0.43416	D	0.000571	D	0.97554	0.9199	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.98100	1.0414	10	0.66056	D	0.02	.	17.0241	0.86441	0.0:1.0:0.0:0.0	.	1538	Q9UMN6	MLL4_HUMAN	Y	1538	ENSP00000222270:H1538Y;ENSP00000398837:H1538Y	ENSP00000222270:H1538Y	H	+	1	0	AD000671.1	40911555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.312000	0.78968	2.552000	0.86080	0.655000	0.94253	CAT	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	protein_coding		C	NM_014727	-		36219715	1	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36219715	C	T	36219715	3	4	112	1	0	0	0	0	1	0	0	0	9625	826	29	2	4690	2	MLL4	19	36219715	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	5694	36219715	22909268	927	8422											
ZNF790	388536	genome.wustl.edu	37	chr19	37309433	37309433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatattctggtgttgagCaaagtttgactcatgactaa	9	5	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:37309433C>A	ENST00000356725.4	-	5	1933	c.1813G>T	c.(1813-1815)Gct>Tct	p.A605S	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	605					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGTGTTGAGCAAAGTTTGAC	0.323																																																	0								ENSG00000197863						94	99	97					19																	37309433		2203	4299	6502	ZNF790	SO:0001583	missense	0			-	HGNC	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1813G>T	19.37:g.37309433C>A	ENSP00000349161:p.Ala605Ser	Somatic	0	146	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	105	15.32		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A605S	ENST00000356725.4	37	c.1813	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	2.998	-0.206652	0.06180	.	.	ENSG00000197863	ENST00000356725	T	0.15017	2.46	3.18	-4.23	0.03789	.	.	.	.	.	T	0.07908	0.0198	N	0.12443	0.215	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.34700	-0.9818	9	0.44086	T	0.13	.	6.347	0.21355	0.0:0.3101:0.137:0.5529	.	605	Q6PG37	ZN790_HUMAN	S	605	ENSP00000349161:A605S	ENSP00000349161:A605S	A	-	1	0	ZNF790	42001273	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.542000	0.06091	-0.791000	0.04486	-0.218000	0.12543	GCT	-	NULL		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	protein_coding	OTTHUMT00000385341.2	C	NM_206894	-		37309433	-1	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	SNP	0.000	A	A	37309433	C	A	37309433	3	1	112	1	0	0	0	0	1	0	0	0	18169	710	25	3	101	3	ZNF790	19	37309433	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1089718	37309433	21819550	928	8423											
RYR1	6261	genome.wustl.edu	37	chr19	39066567	39066567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctgcaggtctttccCtagcaactactgggacaagt	8	13	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:39066567C>T	ENST00000359596.3	+	97	14138	c.14138C>T	c.(14137-14139)cCt>cTt	p.P4713L	RYR1_ENST00000360985.3_Missense_Mutation_p.P4708L|RYR1_ENST00000355481.4_Missense_Mutation_p.P4708L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4713					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)	AGGTCTTTCCCTAGCAACTAC	0.562																																																	0								ENSG00000196218						133	118	123					19																	39066567		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.14138C>T	19.37:g.39066567C>T	ENSP00000352608:p.Pro4713Leu	Somatic	0	19	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P4713L	ENST00000359596.3	37	c.14138	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	15.80	2.940394	0.52972	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99511	-6.05;-6.04;-6.04	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000002	D	0.99536	0.9834	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98208	1.0471	10	0.87932	D	0	.	17.4551	0.87605	0.0:1.0:0.0:0.0	.	4708;4713	P21817-2;P21817	.;RYR1_HUMAN	L	4713;4708;4708	ENSP00000352608:P4713L;ENSP00000347667:P4708L;ENSP00000354254:P4708L	ENSP00000347667:P4708L	P	+	2	0	RYR1	43758407	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.453000	0.82957	0.556000	0.70494	CCT	-	NULL		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		39066567	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39066567	C	T	39066567	3	4	112	1	0	0	0	0	1	0	0	0	13776	681	24	2	14524	2	RYR1	19	39066567	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1757134	39066567	20062416	929	8424											
TIMM50	92609	genome.wustl.edu	37	chr19	39971435	39971435	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtttccattggctgtagctCcggcccggggcgggcgaaga	16	12	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:39971435C>T	ENST00000607714.1	+	0	0				TIMM50_ENST00000314349.4_Missense_Mutation_p.S84F|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTGTAGCTCCGGCCCGGGG	0.711																																																	0								ENSG00000105197						13	16	15					19																	39971435		2191	4279	6470	TIMM50	SO:0001631	upstream_gene_variant	0			-	HGNC	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971435C>T	Exception_encountered	Somatic	0	91	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	41	53.93	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP							pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.S84F	ENST00000607714.1	37	c.251		19	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698106	0.30142	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.57	-0.11	0.13580	.	1.983720	0.03190	N	0.173254	T	0.17408	0.0418	N	0.08118	0	0.09310	N	0.999996	B	0.28933	0.228	B	0.24974	0.057	T	0.11251	-1.0595	8	.	.	.	0.1068	3.634	0.08142	0.1616:0.4363:0.3131:0.089	.	84	Q3ZCQ8-2	.	F	84	.	.	S	+	2	0	TIMM50	44663275	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.053000	0.14184	0.015000	0.14971	-1.567000	0.00876	TCC	-	NULL		0.711	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	protein_coding	OTTHUMT00000470728.1	C	NM_001001563	-		39971435	1	no_errors	ENST00000314349	ensembl	human	known	74_37	missense	SNP	0.000	T	T	39971435	C	T	39971435	1	4	112	0	1	0	0	0	0	0	0	0	15920	855	30	2		2	TIMM50	19	39971435	5'Flank	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	904868	39971435	19157548	930	8425											
SPTBN4	57731	genome.wustl.edu	37	chr19	41019298	41019298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgttcgctgaggtgaccGaagtggcggcgctgaggcgc	18	9	0	3	rs566193157		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41019298G>A	ENST00000352632.3	+	14	2688	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E868K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E868K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E868K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E868K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	868					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGTGACCGAAGTGGCGGC	0.682													G|||	1	0.000199681	8e-04	0	5008	,	,		14679	0		0	False		,,,				2504	0																0								ENSG00000160460						22	24	23					19																	41019298		2201	4297	6498	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2602G>A	19.37:g.41019298G>A	ENSP00000263373:p.Glu868Lys	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E868K	ENST00000352632.3	37	c.2602	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523364	0.64747	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.51817	0.69;0.69;0.69	3.39	3.39	0.38822	.	0.424075	0.20294	N	0.095162	T	0.54367	0.1854	L	0.45352	1.415	0.80722	D	1	D;D	0.71674	0.998;0.99	P;P	0.59012	0.837;0.85	T	0.53507	-0.8429	10	0.37606	T	0.19	.	14.0505	0.64732	0.0:0.0:1.0:0.0	.	868;868	Q9H254;Q71S06	SPTN4_HUMAN;.	K	868	ENSP00000263373:E868K;ENSP00000340345:E868K;ENSP00000340741:E868K	ENSP00000340345:E868K	E	+	1	0	SPTBN4	45711138	1.000000	0.71417	0.999000	0.59377	0.095000	0.18619	6.321000	0.72881	1.918000	0.55548	0.313000	0.20887	GAA	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.682	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41019298	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	0.999	A	A	41019298	G	A	41019298	3	1	112	1	0	0	0	0	1	0	0	0	15128	1059	37	1	2652	1	SPTBN4	19	41019298	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1047863	41019298	18109685	931	8426											
LTBP4	8425	genome.wustl.edu	37	chr19	41128389	41128389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccacccctgccccgccgaCccagcacacctaggcagggc	10	22	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41128389C>A	ENST00000308370.7	+	27	3499	c.3499C>A	c.(3499-3501)Ccc>Acc	p.P1167T	LTBP4_ENST00000545697.1_Missense_Mutation_p.P535T|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.P1130T|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P1100T	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1168	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCCCGCCGACCCAGCACACC	0.692																																																	0								ENSG00000090006						16	18	17					19																	41128389		1906	4109	6015	LTBP4	SO:0001583	missense	0			-	HGNC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3499C>A	19.37:g.41128389C>A	ENSP00000311905:p.Pro1167Thr	Somatic	0	33	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	O00508|O75412|O75413	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P1167T	ENST00000308370.7	37	c.3499		19	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891205	0.52014	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	T;D;T;T	0.83250	-1.37;-1.7;-1.38;-1.35	3.89	3.89	0.44902	.	0.000000	0.36972	N	0.002310	D	0.87645	0.6229	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.982;0.982;0.997	D;D;P;P;P	0.78314	0.991;0.987;0.747;0.628;0.879	D	0.84424	0.0573	9	0.16420	T	0.52	.	15.1206	0.72441	0.0:1.0:0.0:0.0	.	180;388;1100;1168;1130	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	T	1130;535;1167;1100	ENSP00000204005:P1130T;ENSP00000441054:P535T;ENSP00000311905:P1167T;ENSP00000380031:P1100T	ENSP00000204005:P1130T	P	+	1	0	LTBP4	45820229	0.838000	0.29461	1.000000	0.80357	0.619000	0.37552	-0.229000	0.09098	2.168000	0.68352	0.462000	0.41574	CCC	-	NULL		0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	protein_coding		C	NM_003573	-		41128389	1	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	SNP	0.934	A	A	41128389	C	A	41128389	3	1	112	1	0	0	0	0	1	0	0	0	9078	507	18	3	3896	3	LTBP4	19	41128389	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	109091	41128389	18000594	932	8427											
CYP2S1	29785	genome.wustl.edu	37	chr19	41704520	41704520	+	Missense_Mutation	SNP	G	G	A													gctgggagtcagctcccaggGgggtcaggtgagtgggtggg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41704520G>A	ENST00000310054.4	+	4	863	c.647G>A	c.(646-648)gGg>gAg	p.G216E	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	216					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AGCTCCCAGGGGGGTCAGGTG	0.617																																																	0								ENSG00000167600						69	66	67					19																	41704520		2203	4300	6503	CYP2S1	SO:0001583	missense	0			-	HGNC	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.647G>A	19.37:g.41704520G>A	ENSP00000308032:p.Gly216Glu	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	19	61.22	Q9BZ66	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G216E	ENST00000310054.4	37	c.647	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	g	15.52	2.858685	0.51376	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.67345	-0.26	5.06	4.02	0.46733	.	0.634502	0.15915	U	0.238422	T	0.61937	0.2387	L	0.33624	1.015	0.80722	D	1	P	0.48998	0.918	P	0.49140	0.601	T	0.62124	-0.6920	10	0.66056	D	0.02	.	9.2983	0.37829	0.1008:0.0:0.8992:0.0	.	216	Q96SQ9	CP2S1_HUMAN	E	216	ENSP00000308032:G216E	ENSP00000301173:G216E	G	+	2	0	CYP2S1	46396360	1.000000	0.71417	0.963000	0.40424	0.579000	0.36224	1.630000	0.37081	1.128000	0.42052	0.306000	0.20318	GGG	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B		0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	protein_coding	OTTHUMT00000463287.1	G		-		41704520	1	no_errors	ENST00000310054	ensembl	human	known	74_37	missense	SNP	0.990	A	A	41704520	G	A	41704520	3	1	112	1	0	0	0	0	1	0	0	0	4176	1232	43	2	661	2	CYP2S1	19	41704520	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	576131	41704520	17424463	933	8428	142	2									
CYP2S1	29785	genome.wustl.edu	37	chr19	41704521	41704521	+	Silent	SNP	G	G	A													ctgggagtcagctcccagggGggtcaggtgagtgggtggga							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41704521G>A	ENST00000310054.4	+	4	864	c.648G>A	c.(646-648)ggG>ggA	p.G216G	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	216					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCTCCCAGGGGGGTCAGGTGA	0.617																																																	0								ENSG00000167600						69	66	67					19																	41704521		2203	4300	6503	CYP2S1	SO:0001819	synonymous_variant	0			-	HGNC	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.648G>A	19.37:g.41704521G>A		Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	19	61.22	Q9BZ66	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G216	ENST00000310054.4	37	c.648	CCDS12573.1	19																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B		0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	protein_coding	OTTHUMT00000463287.1	G		-		41704521	1	no_errors	ENST00000310054	ensembl	human	known	74_37	silent	SNP	0.996	A	A	41704521	G	A	41704521	2	1	112	1	0	0	0	0	0	0	0	1	4176	1219	43	2		2	CYP2S1	19	41704521	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	41704521	17424462	934	8429	142	2									
ZNF221	7638	genome.wustl.edu	37	chr19	44470188	44470188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatgaatgtaaacagtcCttcagtgatgtttctgtctt	8	6	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:44470188C>T	ENST00000251269.5	+	6	862	c.534C>T	c.(532-534)tcC>tcT	p.S178S	ZNF221_ENST00000587682.1_Silent_p.S178S|ZNF221_ENST00000592350.1_Silent_p.S178S	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GTAAACAGTCCTTCAGTGATG	0.418																																																	0								ENSG00000159905						137	120	126					19																	44470188		2203	4300	6503	ZNF221	SO:0001819	synonymous_variant	0			-	HGNC	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.534C>T	19.37:g.44470188C>T		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S178	ENST00000251269.5	37	c.534	CCDS12633.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	protein_coding	OTTHUMT00000460068.1	C		-		44470188	1	no_errors	ENST00000251269	ensembl	human	known	74_37	silent	SNP	0.003	T	T	44470188	C	T	44470188	2	4	112	1	0	0	0	0	0	0	0	1	17782	668	24	2		2	ZNF221	19	44470188	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2765667	44470188	14658795	935	8430											
ZNF284	342909	genome.wustl.edu	37	chr19	44591126	44591126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttactgagaattcaaaacttCgtttccatcaaagaattcac	4	9	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:44591126C>T	ENST00000421176.3	+	5	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	499					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)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418																																																	0								ENSG00000186026						47	50	49					19																	44591126		2145	4284	6429	ZNF284	SO:0001583	missense	0			-	HGNC	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1495C>T	19.37:g.44591126C>T	ENSP00000411032:p.Arg499Cys	Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	29	51.67	Q86WM1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R499C	ENST00000421176.3	37	c.1495	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291639	0.40594	.	.	ENSG00000186026	ENST00000421176	T	0.22539	1.95	2.37	-4.75	0.03239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34308	0.0893	M	0.75884	2.315	0.09310	N	1	D	0.76494	0.999	P	0.62813	0.907	T	0.17899	-1.0354	9	0.38643	T	0.18	.	6.6298	0.22851	0.5364:0.346:0.1176:0.0	.	499	Q2VY69	ZN284_HUMAN	C	499	ENSP00000411032:R499C	ENSP00000411032:R499C	R	+	1	0	ZNF284	49282966	0.000000	0.05858	0.001000	0.08648	0.339000	0.28857	-1.219000	0.02973	-0.854000	0.04131	0.462000	0.41574	CGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	protein_coding	OTTHUMT00000460473.1	C	NM_001037813	-		44591126	1	no_errors	ENST00000421176	ensembl	human	known	74_37	missense	SNP	0.004	T	T	44591126	C	T	44591126	3	4	112	1	0	0	0	0	1	0	0	0	17828	884	31	1	1509	1	ZNF284	19	44591126	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	120938	44591126	14537857	936	8431											
ZNF180	7733	genome.wustl.edu	37	chr19	44980972	44980972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgattacattcatacgGtttttccccagtgtgaattc	6	10	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:44980972G>A	ENST00000221327.4	-	5	2007	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	ZNF180_ENST00000592529.1_Missense_Mutation_p.P549S|ZNF180_ENST00000391956.4_Missense_Mutation_p.P551S|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					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)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CATTCATACGGTTTTTCCCCA	0.408																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0								ENSG00000167384						103	104	104					19																	44980972		2203	4300	6503	ZNF180	SO:0001583	missense	0			-	HGNC	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1726C>T	19.37:g.44980972G>A	ENSP00000221327:p.Pro576Ser	Somatic	0	75	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	31	52.31	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P576S	ENST00000221327.4	37	c.1726	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087887	0.76642	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.55930	0.49;0.49	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000812	T	0.74435	0.3716	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75482	-0.3302	10	0.54805	T	0.06	-14.9646	18.5038	0.90890	0.0:0.0:1.0:0.0	.	551;575;576	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	576;551	ENSP00000221327:P576S;ENSP00000375818:P551S	ENSP00000221327:P576S	P	-	1	0	ZNF180	49672812	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	6.104000	0.71498	2.673000	0.90976	0.591000	0.81541	CCG	-	pfscan_Znf_C2H2		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	protein_coding	OTTHUMT00000451601.1	G	NM_013256	-		44980972	-1	no_errors	ENST00000221327	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44980972	G	A	44980972	3	1	112	1	0	0	0	0	1	0	0	0	17755	1261	44	2	356	2	ZNF180	19	44980972	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	389846	44980972	14148011	937	8432											
PVRL2	5819	genome.wustl.edu	37	chr19	45375161	45375161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgttcagccaggaccCtacgacagtggccctctgca	11	15	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:45375161C>T	ENST00000252483.5	+	3	530	c.530C>T	c.(529-531)cCt>cTt	p.P177L	PVRL2_ENST00000252485.4_Missense_Mutation_p.P177L	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	177	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		AGCCAGGACCCTACGACAGTG	0.622																																																	0								ENSG00000130202						40	37	38					19																	45375161		2203	4300	6503	PVRL2	SO:0001583	missense	0			-	HGNC	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.530C>T	19.37:g.45375161C>T	ENSP00000252483:p.Pro177Leu	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP							pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P177L	ENST00000252483.5	37	c.530	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629783	0.28978	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.75477	3.31;-0.94	4.42	4.42	0.53409	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.119289	0.38326	N	0.001739	T	0.81317	0.4797	M	0.81179	2.53	0.22620	N	0.998926	P;P	0.37441	0.508;0.595	P;P	0.48454	0.578;0.543	T	0.75093	-0.3439	10	0.52906	T	0.07	.	12.3886	0.55347	0.0:1.0:0.0:0.0	.	177;177	Q92692;Q92692-2	PVRL2_HUMAN;.	L	177	ENSP00000252483:P177L;ENSP00000252485:P177L	ENSP00000252483:P177L	P	+	2	0	PVRL2	50067001	0.003000	0.15002	0.017000	0.16124	0.006000	0.05464	1.610000	0.36869	2.300000	0.77407	0.561000	0.74099	CCT	-	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.622	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	protein_coding	OTTHUMT00000453231.1	C	NM_002856	-		45375161	1	no_errors	ENST00000252483	ensembl	human	known	74_37	missense	SNP	0.040	T	T	45375161	C	T	45375161	3	4	112	1	0	0	0	0	1	0	0	0	12848	681	24	2	540	2	PVRL2	19	45375161	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	394189	45375161	13753822	938	8433											
CLPTM1	1209	genome.wustl.edu	37	chr19	45491343	45491343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcccctgcaggtggcCctgctggagaccaaccccta	11	15	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:45491343C>T	ENST00000337392.5	+	9	1194	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	CLPTM1_ENST00000541297.2_Silent_p.A334A|CLPTM1_ENST00000546079.1_Silent_p.A246A	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	348					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCAGGTGGCCCTGCTGGAGA	0.602																																																	0								ENSG00000104853						248	195	213					19																	45491343		2203	4300	6503	CLPTM1	SO:0001819	synonymous_variant	0			-	HGNC	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1044C>T	19.37:g.45491343C>T		Somatic	0	48	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	39	44.29	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP							pfam_CLPTM1	p.A348	ENST00000337392.5	37	c.1044	CCDS12651.1	19																																																																																			-	pfam_CLPTM1		0.602	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	C	NM_001294	-		45491343	1	no_errors	ENST00000337392	ensembl	human	known	74_37	silent	SNP	0.999	T	T	45491343	C	T	45491343	2	4	112	1	0	0	0	0	0	0	0	1	3556	610	22	2		2	CLPTM1	19	45491343	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	116182	45491343	13637640	939	8434											
SPHK2	56848	genome.wustl.edu	37	chr19	49129294	49129294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctacccagcccgaggCccacgctttgccctcaccct	8	21	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49129294C>T	ENST00000245222.4	+	3	552	c.186C>T	c.(184-186)ggC>ggT	p.G62G	AC022154.7_ENST00000598735.1_RNA|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000599029.1_Silent_p.G26G|SPHK2_ENST00000599748.1_Silent_p.G26G|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000601712.1_Silent_p.G26G|SPHK2_ENST00000340932.3_Silent_p.G26G|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000443164.1_Silent_p.G124G|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000598088.1_Silent_p.G62G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	62	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CAGCCCGAGGCCCACGCTTTG	0.706																																																	0								ENSG00000063176						40	39	39					19																	49129294		2203	4300	6503	SPHK2	SO:0001819	synonymous_variant	0			-	HGNC	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.186C>T	19.37:g.49129294C>T		Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G124	ENST00000245222.4	37	c.372	CCDS12727.1	19																																																																																			-	NULL		0.706	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	protein_coding	OTTHUMT00000466153.1	C		-		49129294	1	no_errors	ENST00000443164	ensembl	human	known	74_37	silent	SNP	0.048	T	T	49129294	C	T	49129294	2	4	112	1	0	0	0	0	0	0	0	1	15054	726	26	2		2	SPHK2	19	49129294	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3637951	49129294	9999689	940	8435											
RASIP1	54922	genome.wustl.edu	37	chr19	49225154	49225154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggagggtcccacgcGgctggcggcccgcggccagg	21	14	0	0	rs376250544	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49225154G>A	ENST00000222145.4	-	11	2853	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000318083.6_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	883	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGTCCCACGCGGCTGGCGGCC	0.642													G|||	2	0.000399361	0	0	5008	,	,		16024	0		0	False		,,,				2504	0.002																0								ENSG00000105538	G		0,4406		0,0,2203	40	49	46		2649	-9	0.1	19		46	1,8591		0,1,4295	no	coding-synonymous	RASIP1	NM_017805.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		883/964	49225154	1,12997	2203	4296	6499	RASIP1	SO:0001819	synonymous_variant	0			-	HGNC	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2649C>T	19.37:g.49225154G>A		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	Q6U676	Silent	SNP							pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.A883	ENST00000222145.4	37	c.2649	CCDS12731.1	19																																																																																			-	pfscan_Dilute		0.642	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	protein_coding	OTTHUMT00000466185.1	G	NM_017805	-		49225154	-1	no_errors	ENST00000222145	ensembl	human	known	74_37	silent	SNP	0.003	A	A	49225154	G	A	49225154	2	1	112	1	0	0	0	0	0	0	0	1	13086	1103	39	1		1	RASIP1	19	49225154	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	95860	49225154	9903829	941	8436											
DKKL1	27120	genome.wustl.edu	37	chr19	49878104	49878104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggtcccaccaggatgCcctggagggcggccactggc	17	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49878104C>T	ENST00000221498.2	+	5	953	c.548C>T	c.(547-549)gCc>gTc	p.A183V	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Missense_Mutation_p.A41V	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	183					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCAGGATGCCCTGGAGGGC	0.647																																																	0								ENSG00000104901						25	28	27					19																	49878104		2203	4300	6503	DKKL1	SO:0001583	missense	0			-	HGNC	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.548C>T	19.37:g.49878104C>T	ENSP00000221498:p.Ala183Val	Somatic	0	79	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	50	42.53		Missense_Mutation	SNP							NULL	p.A183V	ENST00000221498.2	37	c.548	CCDS12762.1	19	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.255658	0.01457	.	.	ENSG00000104901	ENST00000221498	T	0.11604	2.76	4.0	-2.2	0.06994	.	1.595510	0.03691	N	0.247106	T	0.03095	0.0091	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.02654	T	1	-1.3236	4.222	0.10563	0.0:0.3607:0.1766:0.4628	.	183	Q9UK85	DKKL1_HUMAN	V	183	ENSP00000221498:A183V	ENSP00000221498:A183V	A	+	2	0	DKKL1	54569916	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.344000	0.07780	-0.273000	0.09246	-0.812000	0.03155	GCC	-	NULL		0.647	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKKL1	protein_coding	OTTHUMT00000465454.2	C	NM_014419	-		49878104	1	no_errors	ENST00000221498	ensembl	human	known	74_37	missense	SNP	0.000	T	T	49878104	C	T	49878104	3	4	112	1	0	0	0	0	1	0	0	0	4550	739	26	2	566	2	DKKL1	19	49878104	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	652950	49878104	9250879	942	8437											
KLK8	11202	genome.wustl.edu	37	chr19	51503485	51503485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatctttattctgtaggCtgtggtctcccaggcgtact	11	11	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:51503485C>T	ENST00000600767.1	-	5	749	c.260G>A	c.(259-261)aGc>aAc	p.S87N	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.S87N|KLK8_ENST00000598195.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.S132N			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ATTCTGTAGGCTGTGGTCTCC	0.552																																																	0								ENSG00000129455						204	200	201					19																	51503485		2203	4300	6503	KLK8	SO:0001583	missense	0			-	HGNC	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.260G>A	19.37:g.51503485C>T	ENSP00000472016:p.Ser87Asn	Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	38	35.00	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S132N	ENST00000600767.1	37	c.395	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	C	2.317	-0.356484	0.05138	.	.	ENSG00000129455	ENST00000391806;ENST00000291726	D;D	0.92249	-3.0;-3.0	5.02	3.96	0.45880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.103731	0.43919	D	0.000501	T	0.75140	0.3809	N	0.02412	-0.56	0.80722	D	1	B;B	0.12630	0.002;0.006	B;B	0.16289	0.01;0.015	T	0.71213	-0.4659	10	0.02654	T	1	.	9.5923	0.39554	0.0:0.9019:0.0:0.0981	.	87;132	O60259;O60259-2	KLK8_HUMAN;.	N	132;87	ENSP00000375682:S132N;ENSP00000291726:S87N	ENSP00000291726:S87N	S	-	2	0	KLK8	56195297	1.000000	0.71417	0.891000	0.34965	0.623000	0.37688	0.979000	0.29500	2.592000	0.87571	0.655000	0.94253	AGC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.552	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	protein_coding	OTTHUMT00000465032.2	C	NM_007196	-		51503485	-1	no_errors	ENST00000391806	ensembl	human	known	74_37	missense	SNP	0.997	T	T	51503485	C	T	51503485	3	4	112	1	0	0	0	0	1	0	0	0	8412	797	28	2	534	2	KLK8	19	51503485	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1625381	51503485	7625498	943	8438											
ZNF578	147660	genome.wustl.edu	37	chr19	53015037	53015037	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagttttcagtcagaaatCaaaccttgagagacacaaga	8	8	3	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:53015037C>T	ENST00000421239.2	+	6	1647	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	468					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.S468*(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTCAGAAATCAAACCTTGAG	0.393																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000258405						58	63	61					19																	53015037		2200	4299	6499	ZNF578	SO:0001583	missense	0			-	HGNC	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1403C>T	19.37:g.53015037C>T	ENSP00000459216:p.Ser468Leu	Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	32	50.77	B4DR51|I3L1Y6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S468L	ENST00000421239.2	37	c.1403	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	13.05	2.121819	0.37436	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	0.0408	0.14211	.	.	.	.	.	T	0.65101	0.2659	M	0.81802	2.56	0.09310	N	1	D	0.61080	0.989	D	0.72625	0.978	T	0.52071	-0.8624	7	.	.	.	.	8.6566	0.34066	0.0:0.7626:0.2374:0.0	.	468	G3V4F6	.	L	468	.	.	S	+	2	0	ZNF578	57706849	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.798000	0.04565	0.835000	0.34877	0.297000	0.19635	TCA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	protein_coding	OTTHUMT00000344298.3	C	NM_152472	-		53015037	1	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	SNP	0.000	T	T	53015037	C	T	53015037	3	4	112	1	0	0	0	0	1	0	0	0	18017	838	29	2	1413	2	ZNF578	19	53015037	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1511552	53015037	6113946	944	8439											
ZNF611	81856	genome.wustl.edu	37	chr19	53208471	53208471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaccactatgaagtctacGatggcaatgaagggatgacc	10	10	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:53208471G>A	ENST00000319783.1	-	7	2153	c.1837C>T	c.(1837-1839)Cgt>Tgt	p.R613C	ZNF611_ENST00000602162.1_Missense_Mutation_p.R544C|ZNF611_ENST00000595798.1_Missense_Mutation_p.R544C|ZNF611_ENST00000453741.2_Missense_Mutation_p.R544C|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.R613C|ZNF611_ENST00000543227.1_Missense_Mutation_p.R613C	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	613					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(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGAAGTCTACGATGGCAATGA	0.438																																																	0								ENSG00000213020						238	220	226					19																	53208471		2203	4300	6503	ZNF611	SO:0001583	missense	0			-	HGNC	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1837C>T	19.37:g.53208471G>A	ENSP00000322427:p.Arg613Cys	Somatic	0	128	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	85	19.05	B3KRD5|Q69YG9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R613C	ENST00000319783.1	37	c.1837	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	7.404	0.633399	0.14322	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14657	0.0354	L	0.49455	1.56	0.09310	N	1	B	0.24426	0.103	B	0.22386	0.039	T	0.28038	-1.0056	9	0.87932	D	0	.	8.0133	0.30365	0.2671:0.0:0.7329:0.0	.	613	Q8N823	ZN611_HUMAN	C	613;613;544;613	ENSP00000437616:R613C;ENSP00000439211:R613C;ENSP00000443505:R544C;ENSP00000322427:R613C	ENSP00000322427:R613C	R	-	1	0	ZNF611	57900283	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.430000	0.06973	-0.890000	0.03945	-0.657000	0.03884	CGT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	protein_coding	OTTHUMT00000337612.1	G	NM_030972	-		53208471	-1	no_errors	ENST00000319783	ensembl	human	known	74_37	missense	SNP	0.000	A	A	53208471	G	A	53208471	3	1	112	1	0	0	0	0	1	0	0	0	18044	1058	37	1	284	1	ZNF611	19	53208471	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	193434	53208471	5920512	945	8440											
LILRA2	11027	genome.wustl.edu	37	chr19	55098685	55098685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccctaggccaacacCcccaggattacacagtggag	9	15	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55098685C>T	ENST00000251377.3	+	9	1457	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P413S|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P425S|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRA2_ENST00000391738.3_Missense_Mutation_p.P442S|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	442					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGGCCAACACCCCCAGGATTA	0.597																																																	0								ENSG00000239998						132	112	119					19																	55098685		2203	4300	6503	LILRA2	SO:0001583	missense	0			-	HGNC	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1324C>T	19.37:g.55098685C>T	ENSP00000251377:p.Pro442Ser	Somatic	0	106	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	82	22.64	O75020	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P442S	ENST00000251377.3	37	c.1324	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159815	0.09287	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00522	7.06;7.06;6.92;6.84	2.47	0.173	0.15036	.	.	.	.	.	T	0.00328	0.0010	L	0.31476	0.935	0.09310	N	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.12156	0.001;0.004;0.007	T	0.34403	-0.9830	9	0.12430	T	0.62	.	4.5505	0.12110	0.0:0.6492:0.0:0.3508	.	413;442;425	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	S	442;442;425;413	ENSP00000251377:P442S;ENSP00000375618:P442S;ENSP00000251376:P425S;ENSP00000375617:P413S	ENSP00000251376:P425S	P	+	1	0	LILRA2	59790497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.276000	0.08514	-0.023000	0.13963	-0.192000	0.12808	CCC	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.597	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	protein_coding	OTTHUMT00000140813.2	C		-		55098685	1	no_errors	ENST00000251377	ensembl	human	known	74_37	missense	SNP	0.007	T	T	55098685	C	T	55098685	3	4	112	1	0	0	0	0	1	0	0	0	8787	623	22	2	1354	2	LILRA2	19	55098685	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1890214	55098685	4030298	946	8441											
LILRB4	11006	genome.wustl.edu	37	chr19	55177330	55177330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccatcctgcttctctccctCctcctcttcctcctcctcca	1	23	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55177330C>T	ENST00000391736.1	+	9	1137	c.822C>T	c.(820-822)ctC>ctT	p.L274L	LILRB4_ENST00000391733.3_Silent_p.L274L|LILRB4_ENST00000430952.2_Silent_p.L274L|LILRB4_ENST00000391734.3_Silent_p.L274L|LILRB4_ENST00000270452.2_Silent_p.L274L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	274					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ttctctccctcctcctcttcc	0.572																																																	0								ENSG00000186818						236	133	168					19																	55177330		2203	4300	6503	LILRB4	SO:0001819	synonymous_variant	0			-	HGNC	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.822C>T	19.37:g.55177330C>T		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP							pfam_Immunoglobulin,pfscan_Ig-like_dom	p.L274	ENST00000391736.1	37	c.822	CCDS12902.1	19																																																																																			-	NULL		0.572	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	protein_coding	OTTHUMT00000141127.3	C		-		55177330	1	no_errors	ENST00000270452	ensembl	human	known	74_37	silent	SNP	0.009	T	T	55177330	C	T	55177330	2	4	112	1	0	0	0	0	0	0	0	1	8795	842	30	2		2	LILRB4	19	55177330	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	78645	55177330	3951653	947	8442											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55341613	55341613	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagttggatcactgcgttttCacacagagaaaaatcactcg	8	10	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55341613C>T	ENST00000391728.4	+	9	1251	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	KIR3DL1_ENST00000541392.1_Silent_p.F389F|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.F406F|KIR3DL1_ENST00000358178.4_Silent_p.F311F|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000326542.7_Silent_p.F389F	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	406					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACTGCGTTTTCACACAGAGAA	0.502																																																	0								ENSG00000167633						258	239	246					19																	55341613		2171	4170	6341	KIR3DL1	SO:0001819	synonymous_variant	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1218C>T	19.37:g.55341613C>T		Somatic	0	147	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	75	41.86	O43473|Q14946|Q16541	Silent	SNP							pfam_Immunoglobulin,smart_Ig_sub	p.F406	ENST00000391728.4	37	c.1218	CCDS42621.1	19																																																																																			-	NULL		0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	protein_coding	OTTHUMT00000141238.1	C	NM_013289	-		55341613	1	no_errors	ENST00000391728	ensembl	human	known	74_37	silent	SNP	0.038	T	T	55341613	C	T	55341613	2	4	112	1	0	0	0	0	0	0	0	1	8322	825	29	2		2	KIR3DL1	19	55341613	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	164283	55341613	3787370	948	8443											
NLRP2	55655	genome.wustl.edu	37	chr19	55481485	55481485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctgatcacgaccttctcCctggcacacgagctccagaa	7	15	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55481485C>T	ENST00000543010.1	+	2	245	c.102C>T	c.(100-102)tcC>tcT	p.S34S	NLRP2_ENST00000538819.1_Silent_p.S34S|NLRP2_ENST00000263437.6_Silent_p.S34S|NLRP2_ENST00000537859.1_Silent_p.S34S|NLRP2_ENST00000391721.4_Silent_p.S34S|NLRP2_ENST00000448584.2_Silent_p.S34S|NLRP2_ENST00000427260.2_Silent_p.S34S|NLRP2_ENST00000339757.7_Silent_p.S34S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	34	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGACCTTCTCCCTGGCACACG	0.552																																																	0								ENSG00000022556						107	94	98					19																	55481485		2203	4300	6503	NLRP2	SO:0001819	synonymous_variant	0			-	HGNC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.102C>T	19.37:g.55481485C>T		Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S34	ENST00000543010.1	37	c.102	CCDS12913.1	19																																																																																			-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	protein_coding	OTTHUMT00000396152.1	C	NM_017852	-		55481485	1	no_errors	ENST00000448584	ensembl	human	known	74_37	silent	SNP	0.001	T	T	55481485	C	T	55481485	2	4	112	1	0	0	0	0	0	0	0	1	10479	610	22	2		2	NLRP2	19	55481485	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	139872	55481485	3647498	949	8444											
RDH13	112724	genome.wustl.edu	37	chr19	55568079	55568079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaagccaagtccaggtgCcgggcgttgacatggtgatt	16	8	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55568079C>T	ENST00000415061.3	-	3	425	c.282G>A	c.(280-282)cgG>cgA	p.R94R	RDH13_ENST00000396247.3_Silent_p.R23R|CTC-550B14.6_ENST00000585492.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	94					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.R94R(1)|p.R23R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AGTCCAGGTGCCGGGCGTTGA	0.572																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000160439						81	84	83					19																	55568079		2001	4178	6179	RDH13	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.282G>A	19.37:g.55568079C>T		Somatic	0	97	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	52	41.57	Q6UX79|Q96G88	Silent	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R94	ENST00000415061.3	37	c.282	CCDS54320.1	19																																																																																			-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase		0.572	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	protein_coding	OTTHUMT00000451470.1	C	NM_138412	-		55568079	-1	no_errors	ENST00000415061	ensembl	human	known	74_37	silent	SNP	0.903	T	T	55568079	C	T	55568079	2	4	112	1	0	0	0	0	0	0	0	1	13200	726	26	2		2	RDH13	19	55568079	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	86594	55568079	3560904	950	8445											
NLRP4	147945	genome.wustl.edu	37	chr19	56382299	56382299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtgccaatgtcctgaagGacgaaggactgaaaactctc	10	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:56382299G>A	ENST00000301295.6	+	7	2883	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D765N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D746N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	821					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCCTGAAGGACGAAGGACT	0.507																																																	0								ENSG00000160505						147	127	134					19																	56382299		2203	4300	6503	NLRP4	SO:0001583	missense	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2461G>A	19.37:g.56382299G>A	ENSP00000301295:p.Asp821Asn	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q86W87|Q96AY6	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D821N	ENST00000301295.6	37	c.2461	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372830	0.42105	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.58797	0.31;1.16	3.75	1.53	0.23141	.	.	.	.	.	T	0.60792	0.2296	M	0.77313	2.365	0.09310	N	1	P;P;P	0.48503	0.911;0.825;0.855	P;P;P	0.49301	0.574;0.471;0.606	T	0.50750	-0.8791	9	0.40728	T	0.16	.	4.6256	0.12476	0.1178:0.0:0.6669:0.2153	.	765;746;821	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	821;765	ENSP00000301295:D821N;ENSP00000344787:D765N	ENSP00000301295:D821N	D	+	1	0	NLRP4	61074111	0.015000	0.18098	0.002000	0.10522	0.002000	0.02628	1.101000	0.31037	0.365000	0.24400	-0.145000	0.13849	GAC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444	-		56382299	1	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	SNP	0.003	A	A	56382299	G	A	56382299	3	1	112	1	0	0	0	0	1	0	0	0	10481	1174	41	2	2483	2	NLRP4	19	56382299	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	814220	56382299	2746684	951	8446											
ZNF787	126208	genome.wustl.edu	37	chr19	56600179	56600179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcactccaagcaggcgtagGgcttctcgcccgtgtggatg	14	13	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:56600179G>A	ENST00000270459.3	-	3	480	c.362C>T	c.(361-363)cCc>cTc	p.P121L		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCAGGCGTAGGGCTTCTCGCC	0.682																																																	0								ENSG00000142409						23	25	24					19																	56600179		2203	4300	6503	ZNF787	SO:0001583	missense	0			-	HGNC	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.362C>T	19.37:g.56600179G>A	ENSP00000270459:p.Pro121Leu	Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.54	O00455	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P121L	ENST00000270459.3	37	c.362	CCDS42634.1	19	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470567	0.63625	.	.	ENSG00000142409	ENST00000270459	T	0.56444	0.46	3.63	3.63	0.41609	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72724	0.3496	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77822	-0.2445	9	0.72032	D	0.01	-19.6755	13.1629	0.59554	0.0:0.0:1.0:0.0	.	121	Q6DD87	ZN787_HUMAN	L	121	ENSP00000270459:P121L	ENSP00000270459:P121L	P	-	2	0	ZNF787	61291991	1.000000	0.71417	0.995000	0.50966	0.740000	0.42216	5.475000	0.66787	2.017000	0.59298	0.462000	0.41574	CCC	-	pfscan_Znf_C2H2		0.682	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF787	protein_coding	OTTHUMT00000457498.1	G	NM_001002836	-		56600179	-1	no_errors	ENST00000270459	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56600179	G	A	56600179	3	1	112	1	0	0	0	0	1	0	0	0	18166	1232	43	2	793	2	ZNF787	19	56600179	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	217880	56600179	2528804	952	8447											
ZNF530	348327	genome.wustl.edu	37	chr19	58115665	58115665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtttttgtagcctttgaGgatgtggccatttacttctc	10	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:58115665G>A	ENST00000332854.6	+	2	271	c.51G>A	c.(49-51)gaG>gaA	p.E17E	ZNF530_ENST00000597864.1_5'UTR	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	17	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGCCTTTGAGGATGTGGCCA	0.512																																																	0								ENSG00000183647						248	203	218					19																	58115665		2203	4300	6503	ZNF530	SO:0001819	synonymous_variant	0			-	HGNC	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.51G>A	19.37:g.58115665G>A		Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	88	16.19	O43340|Q9P220	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E17	ENST00000332854.6	37	c.51	CCDS12955.1	19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.512	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	protein_coding	OTTHUMT00000466797.1	G	NM_020880	-		58115665	1	no_errors	ENST00000332854	ensembl	human	known	74_37	silent	SNP	0.398	A	A	58115665	G	A	58115665	2	1	112	1	0	0	0	0	0	0	0	1	17978	991	35	2		2	ZNF530	19	58115665	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1515486	58115665	1013318	953	8448											
ZBTB45	84878	genome.wustl.edu	37	chr19	59025634	59025634	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcaggtagtcgcgtagAgagaaggatcgccagcacac	14	9	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:59025634A>C	ENST00000594051.1	-	3	1803	c.1323T>G	c.(1321-1323)tcT>tcG	p.S441S	SLC27A5_ENST00000263093.2_5'Flank|ZBTB45_ENST00000600990.1_Silent_p.S441S|ZBTB45_ENST00000354590.3_Silent_p.S441S|SLC27A5_ENST00000601355.1_5'Flank			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	441					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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		AGTCGCGTAGAGAGAAGGATC	0.662																																					NSCLC(164;1383 2017 5233 27540 46677)												0								ENSG00000119574						27	26	26					19																	59025634		2201	4297	6498	ZBTB45	SO:0001819	synonymous_variant	0			-	HGNC	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1323T>G	19.37:g.59025634A>C		Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	41	42.25		Silent	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S441	ENST00000594051.1	37	c.1323	CCDS12984.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	protein_coding	OTTHUMT00000467067.1	A	NM_032792	-		59025634	-1	no_errors	ENST00000354590	ensembl	human	known	74_37	silent	SNP	0.989	C	C	59025634	A	C	59025634	2	2	112	1	0	0	0	0	0	0	0	1	17553	291	11	5		5	ZBTB45	19	59025634	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	909969	59025634	103349	954	8449											
IDH3B	3420	genome.wustl.edu	37	chr20	2639478	2639478	+	Silent	SNP	C	C	T													tagccgcccatgtctcgagtCcgcacctacagccaccaccg					rs3180299		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:2639478C>T	ENST00000380843.4	-	12	1107	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TGTCTCGAGTCCGCACCTACA	0.537																																																	0								ENSG00000101365						79	72	74					20																	2639478		2203	4300	6503	IDH3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1077G>A	20.37:g.2639478C>T		Somatic	0	50	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	25	41.86	B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP							pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.R359	ENST00000380843.4	37	c.1077	CCDS13032.1	20																																																																																			-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.537	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	protein_coding	OTTHUMT00000077613.1	C		rs3180299		2639478	-1	no_errors	ENST00000380843	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2639478	C	T	2639478	2	4	112	1	0	0	0	0	0	0	0	1	7499	842	30	2		2	IDH3B	20	2639478	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		2639478	60386042	955	8450	143	2									
IDH3B	3420	genome.wustl.edu	37	chr20	2639479	2639479	+	Missense_Mutation	SNP	C	C	T													agccgcccatgtctcgagtcCgcacctacagccaccaccgg					rs151027738	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:2639479C>T	ENST00000380843.4	-	12	1106	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GTCTCGAGTCCGCACCTACAG	0.542																																																	0								ENSG00000101365	C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	77	70	73		1076,,620	2.8	1	20	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	43,,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	359/386,,207/234	2639479	1,13005	2203	4300	6503	IDH3B	SO:0001583	missense	0			-	HGNC		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1076G>A	20.37:g.2639479C>T	ENSP00000370223:p.Arg359Gln	Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	23	44.19	B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP							pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.R359Q	ENST00000380843.4	37	c.1076	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391892	0.42410	0.0	1.16E-4	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.56941	0.43	4.74	2.82	0.32997	Isopropylmalate dehydrogenase-like domain (2);	0.120606	0.56097	D	0.000021	T	0.78773	0.4336	H	0.98199	4.17	0.58432	D	0.999999	D;D	0.63880	0.991;0.993	D;D	0.65573	0.918;0.936	T	0.80881	-0.1184	10	0.59425	D	0.04	-1.5054	9.0441	0.36336	0.0:0.8289:0.0:0.1711	.	207;359	O43837-3;O43837	.;IDH3B_HUMAN	Q	359;207	ENSP00000370223:R359Q	ENSP00000370223:R359Q	R	-	2	0	IDH3B	2587479	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.788000	0.47806	0.624000	0.30286	-0.482000	0.04802	CGG	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.542	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	protein_coding	OTTHUMT00000077613.1	C		rs151027738		2639479	-1	no_errors	ENST00000380843	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2639479	C	T	2639479	3	4	112	1	0	0	0	0	1	0	0	0	7499	652	23	1	170	1	IDH3B	20	2639479	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	2639479	60386041	956	8451	143	2									
PTPRA	5786	genome.wustl.edu	37	chr20	3016353	3016353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctggtcaccaacacCagggtaagatgggtcgtggg	14	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:3016353C>T	ENST00000216877.6	+	20	2416	c.2016C>T	c.(2014-2016)acC>acT	p.T672T	PTPRA_ENST00000380393.3_Silent_p.T681T|PTPRA_ENST00000425918.2_Silent_p.T692T|PTPRA_ENST00000356147.3_Silent_p.T672T|PTPRA_ENST00000399903.2_Silent_p.T681T|PTPRA_ENST00000318266.5_Silent_p.T672T|PTPRA_ENST00000358719.4_Silent_p.T537T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	681	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCACCAACACCAGGGTAAGAT	0.537																																																	0								ENSG00000132670						76	71	73					20																	3016353		2203	4300	6503	PTPRA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2016C>T	20.37:g.3016353C>T		Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	57	40.00	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP							pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T692	ENST00000216877.6	37	c.2076	CCDS13039.1	20																																																																																			-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.537	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	C		-		3016353	1	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3016353	C	T	3016353	2	4	112	1	0	0	0	0	0	0	0	1	12803	581	21	2		2	PTPRA	20	3016353	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	376874	3016353	60009167	957	8452											
PLCB1	23236	genome.wustl.edu	37	chr20	8637849	8637849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaatgattcaatacctcaaGaagatttcactccagaagtg	7	8	3	5			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:8637849G>A	ENST00000338037.6	+	8	640	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	PLCB1_ENST00000378641.3_Missense_Mutation_p.E205K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E205K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	205					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATACCTCAAGAAGATTTCAC	0.393																																																	0								ENSG00000182621						114	113	114					20																	8637849		2203	4300	6503	PLCB1	SO:0001583	missense	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.613G>A	20.37:g.8637849G>A	ENSP00000338185:p.Glu205Lys	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	57	28.75	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E205K	ENST00000338037.6	37	c.613	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121482	0.77436	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.44482	0.92;0.92;0.92	5.15	5.15	0.70609	.	0.223503	0.47455	D	0.000235	T	0.40767	0.1130	L	0.42245	1.32	0.51233	D	0.999914	B;P	0.45176	0.001;0.852	B;B	0.42593	0.003;0.392	T	0.14117	-1.0484	10	0.25751	T	0.34	.	18.9962	0.92813	0.0:0.0:1.0:0.0	.	205;205	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	205;205;205;125;125	ENSP00000367908:E205K;ENSP00000338185:E205K;ENSP00000367904:E205K	ENSP00000338185:E205K	E	+	1	0	PLCB1	8585849	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.637000	0.98443	2.549000	0.85964	0.555000	0.69702	GAA	-	pirsf_PLC-beta		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	G		-		8637849	1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8637849	G	A	8637849	3	1	112	1	0	0	0	0	1	0	0	0	12029	943	33	2	643	2	PLCB1	20	8637849	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5621496	8637849	54387671	958	8453											
PLCB1	23236	genome.wustl.edu	37	chr20	8689384	8689384	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaattctcctttcgtttgAgaaccatgtggattcgtaag	8	9	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:8689384A>C	ENST00000338037.6	+	12	1262	c.1235A>C	c.(1234-1236)gAg>gCg	p.E412A	PLCB1_ENST00000378641.3_Missense_Mutation_p.E412A|PLCB1_ENST00000378637.2_Missense_Mutation_p.E412A	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	412	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTTCGTTTGAGAACCATGTG	0.353																																																	0								ENSG00000182621						134	111	119					20																	8689384		2203	4300	6503	PLCB1	SO:0001583	missense	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1235A>C	20.37:g.8689384A>C	ENSP00000338185:p.Glu412Ala	Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	71	40.83	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E412A	ENST00000338037.6	37	c.1235	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555040	0.86231	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.63913	-0.07;-0.07;-0.07	5.2	5.2	0.72013	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.099612	0.64402	D	0.000002	D	0.87807	0.6270	H	0.99286	4.5	0.80722	D	1	D;P	0.69078	0.997;0.837	D;B	0.77004	0.989;0.221	D	0.92874	0.6317	10	0.87932	D	0	.	15.2329	0.73404	1.0:0.0:0.0:0.0	.	412;412	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	A	412;412;412;332;332	ENSP00000367908:E412A;ENSP00000338185:E412A;ENSP00000367904:E412A	ENSP00000338185:E412A	E	+	2	0	PLCB1	8637384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.002000	0.93572	2.180000	0.69256	0.533000	0.62120	GAG	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.353	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	A		-		8689384	1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	SNP	1.000	C	C	8689384	A	C	8689384	3	2	112	1	0	0	0	0	1	0	0	0	12029	304	11	5	1281	5	PLCB1	20	8689384	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	51535	8689384	54336136	959	8454											
PLCB1	23236	genome.wustl.edu	37	chr20	8722148	8722148	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaaacccaatccgatatgtGaacctgatggaacagagagc	9	10	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:8722148G>A	ENST00000338037.6	+	23	2478	c.2451G>A	c.(2449-2451)gtG>gtA	p.V817V	PLCB1_ENST00000378641.3_Silent_p.V817V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.V817V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	817					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCCGATATGTGAACCTGATGG	0.368																																																	0								ENSG00000182621						139	126	130					20																	8722148		2203	4300	6503	PLCB1	SO:0001819	synonymous_variant	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2451G>A	20.37:g.8722148G>A		Somatic	0	110	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	84	26.32	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V817	ENST00000338037.6	37	c.2451	CCDS13102.1	20																																																																																			-	pirsf_PLC-beta		0.368	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	G		-		8722148	1	no_errors	ENST00000338037	ensembl	human	known	74_37	silent	SNP	1.000	A	A	8722148	G	A	8722148	2	1	112	1	0	0	0	0	0	0	0	1	12029	1277	45	2		2	PLCB1	20	8722148	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	32764	8722148	54303372	960	8455											
PLCB4	5332	genome.wustl.edu	37	chr20	9417703	9417703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgacaagaaaggaaagGccaacaccgccaaagcaaat	8	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:9417703G>A	ENST00000378493.1	+	26	2647	c.2632G>A	c.(2632-2634)Gcc>Acc	p.A878T	PLCB4_ENST00000378501.2_Missense_Mutation_p.A878T|PLCB4_ENST00000378473.3_Missense_Mutation_p.A890T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.A878T|PLCB4_ENST00000334005.3_Missense_Mutation_p.A878T|PLCB4_ENST00000414679.2_Missense_Mutation_p.A890T			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	878					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAAGGAAAGGCCAACACCGC	0.507																																																	0								ENSG00000101333						91	79	83					20																	9417703		2203	4300	6503	PLCB4	SO:0001583	missense	0			-	HGNC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2632G>A	20.37:g.9417703G>A	ENSP00000367754:p.Ala878Thr	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	77	35.29	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A878T	ENST00000378493.1	37	c.2632	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480166	0.44044	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61627	2.15;2.16;0.09;0.09;2.15;1.97	6.07	6.07	0.98685	.	0.165132	0.56097	D	0.000035	T	0.36853	0.0982	N	0.08118	0	0.42544	D	0.993081	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.0;0.0;0.001	T	0.23904	-1.0175	10	0.21540	T	0.41	.	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	890;725;878;878	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	T	878;890;878;878;878;726	ENSP00000334105:A878T;ENSP00000367734:A890T;ENSP00000278655:A878T;ENSP00000367754:A878T;ENSP00000367762:A878T;ENSP00000390616:A726T	ENSP00000278655:A878T	A	+	1	0	PLCB4	9365703	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.009000	0.57110	2.884000	0.98904	0.655000	0.94253	GCC	-	pirsf_PLC-beta		0.507	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	G		-		9417703	1	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9417703	G	A	9417703	3	1	112	1	0	0	0	0	1	0	0	0	12032	1203	42	2	2774	2	PLCB4	20	9417703	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	695555	9417703	53607817	961	8456											
PAK7	57144	genome.wustl.edu	37	chr20	9546748	9546748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgttcatgggacaccctgGagggctgctggtcggaggag	17	9	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:9546748G>A	ENST00000378429.3	-	6	1820	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	PAK7_ENST00000378423.1_Missense_Mutation_p.S425F|PAK7_ENST00000353224.5_Missense_Mutation_p.S425F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	425	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGACACCCTGGAGGGCTGCTG	0.627																																																	0								ENSG00000101349						58	59	58					20																	9546748		2203	4300	6503	PAK7	SO:0001583	missense	0			-	HGNC	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1274C>T	20.37:g.9546748G>A	ENSP00000367686:p.Ser425Phe	Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	23	45.24	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.S425F	ENST00000378429.3	37	c.1274	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227454	0.79576	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.74526	-0.85;-0.85;-0.85	5.66	5.66	0.87406	.	0.112873	0.64402	D	0.000002	T	0.71082	0.3298	L	0.47716	1.5	0.58432	D	0.999995	D;D	0.58970	0.984;0.984	B;B	0.42188	0.379;0.379	T	0.71397	-0.4605	9	.	.	.	.	19.7589	0.96306	0.0:0.0:1.0:0.0	.	425;425	B0AZM9;Q9P286	.;PAK7_HUMAN	F	425;425;425;373	ENSP00000367686:S425F;ENSP00000322957:S425F;ENSP00000367679:S425F	.	S	-	2	0	PAK7	9494748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.349000	0.73013	2.654000	0.90174	0.585000	0.79938	TCC	-	NULL		0.627	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	protein_coding	OTTHUMT00000077962.1	G		-		9546748	-1	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9546748	G	A	9546748	3	1	112	1	0	0	0	0	1	0	0	0	11407	1174	41	2	909	2	PAK7	20	9546748	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	129045	9546748	53478772	962	8457											
SNAP25	6616	genome.wustl.edu	37	chr20	10280021	10280021	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatatgggcaatgagatCgatacacagaatcgccagat	11	8	0	3	rs372122045		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:10280021C>T	ENST00000254976.2	+	7	724	c.513C>T	c.(511-513)atC>atT	p.I171I	SNAP25_ENST00000304886.2_Silent_p.I171I|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	171	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.I171I(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCAATGAGATCGATACACAGA	0.507																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000132639	C	,	0,4406		0,0,2203	107	96	99		513,513	-5.6	0.9	20		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SNAP25	NM_003081.3,NM_130811.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	171/207,171/207	10280021	1,13005	2203	4300	6503	SNAP25	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.513C>T	20.37:g.10280021C>T		Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	57	35.96	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP							pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.I171	ENST00000254976.2	37	c.513	CCDS13110.1	20																																																																																			-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.507	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	protein_coding	OTTHUMT00000077976.3	C	NM_130811	-		10280021	1	no_errors	ENST00000254976	ensembl	human	known	74_37	silent	SNP	0.927	T	T	10280021	C	T	10280021	2	4	112	1	0	0	0	0	0	0	0	1	14838	874	31	1		1	SNAP25	20	10280021	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	733273	10280021	52745499	963	8458											
ISM1	140862	genome.wustl.edu	37	chr20	13251361	13251361	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccagatctttccaaagctGatatcaatgggcagaatcca	7	10	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:13251361G>A	ENST00000262487.4	+	2	355	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	117						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCAAAGCTGATATCAATGG	0.443																																																	0								ENSG00000101230						71	66	68					20																	13251361		1852	4098	5950	ISM1	SO:0001583	missense	0			-	HGNC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.349G>A	20.37:g.13251361G>A	ENSP00000262487:p.Asp117Asn	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	74	39.52	Q8WVH9	Missense_Mutation	SNP							pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.D117N	ENST00000262487.4	37	c.349	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.267888	0.95399	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.58652	0.32;0.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74650	0.3744	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73805	-0.3867	10	0.52906	T	0.07	-22.2274	19.8633	0.96793	0.0:0.0:1.0:0.0	.	117	B1AKI9	ISM1_HUMAN	N	117;71	ENSP00000262487:D117N;ENSP00000409938:D71N	ENSP00000262487:D117N	D	+	1	0	ISM1	13199361	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.229000	0.95273	2.697000	0.92050	0.591000	0.81541	GAT	-	NULL		0.443	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	protein_coding	OTTHUMT00000078039.2	G		-		13251361	1	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	SNP	1.000	A	A	13251361	G	A	13251361	3	1	112	1	0	0	0	0	1	0	0	0	7862	1290	45	2	355	2	ISM1	20	13251361	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2971340	13251361	49774159	964	8459											
C20orf26	26074	genome.wustl.edu	37	chr20	20322481	20322481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttccttaccagctacttCaccgagccgtggtgcctggc	9	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:20322481C>T	ENST00000245957.5	+	26	3505	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1143										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)		CCAGCTACTTCACCGAGCCGT	0.433																																																	0								ENSG00000089101						107	98	102					20																	20322481		2203	4300	6503	C20orf26	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000245957.5:c.3429C>T	20.37:g.20322481C>T		Somatic	0	62	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	39	48.05	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP							superfamily_Acyl_CoA_acyltransferase	p.F1143	ENST00000245957.5	37	c.3429	CCDS33447.1	20																																																																																			-	NULL		0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	protein_coding	OTTHUMT00000078228.3	C		-		20322481	1	no_errors	ENST00000245957	ensembl	human	known	74_37	silent	SNP	0.984	T	T	20322481	C	T	20322481	2	4	112	1	0	0	0	0	0	0	0	1	2108	825	29	2		2	C20orf26	20	20322481	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7071120	20322481	42703039	965	8460											
RALGAPA2	57186	genome.wustl.edu	37	chr20	20596831	20596831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcagagttcgtcaaaAataccttaaaatcaacaact	5	8	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:20596831A>G	ENST00000202677.7	-	13	1551	c.1544T>C	c.(1543-1545)tTt>tCt	p.F515S		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	515					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						GTTCGTCAAAAATACCTTAAA	0.294																																																	0								ENSG00000188559						47	42	43					20																	20596831		1796	4051	5847	RALGAPA2	SO:0001583	missense	0			-	HGNC	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.1544T>C	20.37:g.20596831A>G	ENSP00000202677:p.Phe515Ser	Somatic	0	90	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	86	33.85	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP							pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.F515S	ENST00000202677.7	37	c.1544	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.3|25.3	4.622318|4.622318	0.87460|0.87460	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	T|T	0.79352|0.79940	-1.26|-1.32	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90065|0.90065	0.6897|0.6897	M|M	0.87180|0.87180	2.865|2.865	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.71674	.|0.998	.|P	.|0.61658	.|0.892	D|D	0.91703|0.91703	0.5375|0.5375	8|10	0.72032|0.87932	D|D	0.01|0	.|.	16.4622|16.4622	0.84064|0.84064	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|515	.|Q2PPJ7	.|RGPA2_HUMAN	L|S	332|515	ENSP00000400085:F332L|ENSP00000202677:F515S	ENSP00000400085:F332L|ENSP00000202677:F515S	F|F	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20544831|20544831	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.626000|8.626000	0.90969|0.90969	2.289000|2.289000	0.77006|0.77006	0.533000|0.533000	0.62120|0.62120	TTT|TTT	-	NULL		0.294	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	protein_coding	OTTHUMT00000471941.1	A	NM_020343	-		20596831	-1	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	SNP	1.000	G	G	20596831	A	G	20596831	3	3	112	1	0	0	0	0	1	0	0	0	13022	14	1	5	4185	5	RALGAPA2	20	20596831	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	274350	20596831	42428689	966	8461											
TMEM90B	79953	genome.wustl.edu	37	chr20	24565519	24565519	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actcaagcgacacagagagtGaggacaatttcctcatgatg	10	9	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:24565519G>C	ENST00000376862.3	+	3	1141	c.508G>C	c.(508-510)Gag>Cag	p.E170Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	170					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CACAGAGAGTGAGGACAATTT	0.552																																																	0								ENSG00000101463						143	133	137					20																	24565519		2203	4300	6503	SYNDIG1	SO:0001583	missense	0			-	HGNC	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.508G>C	20.37:g.24565519G>C	ENSP00000366058:p.Glu170Gln	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	30	46.43	Q6IA30|Q9H514	Missense_Mutation	SNP							pfam_CD225/Dispanin_fam	p.E170Q	ENST00000376862.3	37	c.508	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625982	0.87560	.	.	ENSG00000101463	ENST00000376862	D	0.94184	-3.37	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.95664	0.8590	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95460	0.8542	10	0.52906	T	0.07	-29.2931	14.0241	0.64575	0.0:0.0:1.0:0.0	.	170	Q9H7V2	SYNG1_HUMAN	Q	170	ENSP00000366058:E170Q	ENSP00000366058:E170Q	E	+	1	0	SYNDIG1	24513519	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.535000	0.98064	2.382000	0.81193	0.561000	0.74099	GAG	-	NULL		0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	protein_coding	OTTHUMT00000078376.1	G	NM_024893	-		24565519	1	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24565519	G	C	24565519	3	2	112	1	0	0	0	0	1	0	0	0	16226	1291	45	4	514	4	TMEM90B	20	24565519	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3968688	24565519	38460001	967	8462											
MYLK2	85366	genome.wustl.edu	37	chr20	30408108	30408108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagcagccaaggccccaaaGgagagggtgacaggggcggg	18	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:30408108G>A	ENST00000375994.2	+	2	505	c.232G>A	c.(232-234)Gga>Aga	p.G78R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G78R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	78					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)			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)			AGGCCCCAAAGGAGAGGGTGA	0.667																																																	0								ENSG00000101306						27	32	30					20																	30408108		2198	4281	6479	MYLK2	SO:0001583	missense	0			-	HGNC	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.232G>A	20.37:g.30408108G>A	ENSP00000365162:p.Gly78Arg	Somatic	0	117	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	90	42.77	Q569L1|Q96I84	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G78R	ENST00000375994.2	37	c.232	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	g	13.38	2.219665	0.39201	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68765	-0.35;-0.35	4.81	2.89	0.33648	.	.	.	.	.	T	0.54854	0.1884	L	0.36672	1.1	0.09310	N	1	P	0.36065	0.535	B	0.37833	0.259	T	0.43245	-0.9403	9	0.40728	T	0.16	.	7.2625	0.26212	0.1974:0.0:0.8026:0.0	.	78	Q9H1R3	MYLK2_HUMAN	R	78	ENSP00000365162:G78R;ENSP00000365152:G78R	ENSP00000365152:G78R	G	+	1	0	MYLK2	29871769	0.001000	0.12720	0.023000	0.16930	0.020000	0.10135	0.498000	0.22530	0.653000	0.30826	-0.215000	0.12644	GGA	-	NULL		0.667	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	protein_coding	OTTHUMT00000078583.2	G	NM_033118	-		30408108	1	no_errors	ENST00000375985	ensembl	human	known	74_37	missense	SNP	0.058	A	A	30408108	G	A	30408108	3	1	112	1	0	0	0	0	1	0	0	0	10059	1001	35	2	238	2	MYLK2	20	30408108	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5842589	30408108	32617412	968	8463											
C20orf186	149954	genome.wustl.edu	37	chr20	31672720	31672720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtatcgtggagctgaccCtccctcgggtgtccgtgcgg	15	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:31672720C>T	ENST00000375483.3	+	4	700	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	234						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGAGCTGACCCTCCCTCGGGT	0.672																																																	0								ENSG00000186191						57	43	48					20																	31672720		2203	4300	6503	BPIFB4	SO:0001583	missense	0			-	HGNC	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.700C>T	20.37:g.31672720C>T	ENSP00000364632:p.Leu234Phe	Somatic	0	87	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	60	37.76	Q5TDX6	Missense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L234F	ENST00000375483.3	37	c.700	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261430	0.59431	.	.	ENSG00000186191	ENST00000375483	T	0.08984	3.03	3.68	3.68	0.42216	.	0.000000	0.51477	D	0.000100	T	0.21674	0.0522	L	0.53249	1.67	0.43214	D	0.995089	D	0.76494	0.999	D	0.87578	0.998	T	0.00516	-1.1694	10	0.87932	D	0	-12.8669	10.7773	0.46356	0.0:1.0:0.0:0.0	.	234	P59827	BPIB4_HUMAN	F	234	ENSP00000364632:L234F	ENSP00000364632:L234F	L	+	1	0	BPIFB4	31136381	0.913000	0.31002	1.000000	0.80357	0.667000	0.39255	3.851000	0.55926	1.905000	0.55150	0.484000	0.47621	CTC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.672	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	protein_coding	OTTHUMT00000078655.5	C	NM_182519	-		31672720	1	no_errors	ENST00000375483	ensembl	human	known	74_37	missense	SNP	0.981	T	T	31672720	C	T	31672720	3	4	112	1	0	0	0	0	1	0	0	0	2100	681	24	2	714	2	C20orf186	20	31672720	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1264612	31672720	31352800	969	8464											
MYH7B	57644	genome.wustl.edu	37	chr20	33570357	33570357	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgggccgggcaagaaggCcgtaagacttgcccactcgg	15	12	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:33570357C>T	ENST00000262873.7	+	8	841	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	208	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGCAAGAAGGCCGTAAGACTT	0.517																																																	0								ENSG00000078814						49	53	51					20																	33570357		1976	4155	6131	MYH7B	SO:0001630	splice_region_variant	0			-	HGNC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.750+1C>T	20.37:g.33570357C>T		Somatic	0	144	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	92	38.67	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A250V	ENST00000262873.7	37	c.749	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584479	0.46110	.	.	ENSG00000078814	ENST00000262873	T	0.71461	-0.57	4.83	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.37669	N	0.001987	T	0.44052	0.1275	N	0.04018	-0.295	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39333	-0.9619	10	0.30078	T	0.28	.	6.7747	0.23613	0.0:0.5732:0.3313:0.0955	.	208	A7E2Y1	MYH7B_HUMAN	V	250	ENSP00000262873:A250V	ENSP00000262873:A250V	A	+	2	0	MYH7B	33034018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.458000	0.45014	2.504000	0.84457	0.511000	0.50034	GCC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.517	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	protein_coding	OTTHUMT00000078833.2	C	NM_020884	-	Missense_Mutation	33570357	1	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	SNP	1.000	T	T	33570357	C	T	33570357	5	4	112	1	0	0	0	0	0	0	1	0	10042	753	26	2	779	2	MYH7B	20	33570357	Splice_Site	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1897637	33570357	29455163	970	8465											
CEP250	11190	genome.wustl.edu	37	chr20	34092368	34092368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagacatcagcaggaacgGgagcagctgctggagaagtc	15	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:34092368G>A	ENST00000397527.1	+	30	6891	c.6171G>A	c.(6169-6171)cgG>cgA	p.R2057R	CEP250_ENST00000342580.4_Silent_p.R2001R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2057	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCAGGAACGGGAGCAGCTGC	0.557																																																	0								ENSG00000126001						29	31	30					20																	34092368		2203	4300	6503	CEP250	SO:0001819	synonymous_variant	0			-	HGNC	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6171G>A	20.37:g.34092368G>A		Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP							superfamily_Prefoldin	p.R2057	ENST00000397527.1	37	c.6171	CCDS13255.1	20																																																																																			-	NULL		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	G	NM_007186	-		34092368	1	no_errors	ENST00000397527	ensembl	human	known	74_37	silent	SNP	0.326	A	A	34092368	G	A	34092368	2	1	112	1	0	0	0	0	0	0	0	1	3254	1219	43	2		2	CEP250	20	34092368	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	522011	34092368	28933152	971	8466											
RALGAPB	57148	genome.wustl.edu	37	chr20	37150191	37150191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggaaagggtcacaaatgtCcacagacaccatggtttcca	9	11	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:37150191C>T	ENST00000262879.6	+	10	1753	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	RALGAPB_ENST00000397040.1_Missense_Mutation_p.S490F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S268F|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S490F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	490					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S490F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCACAAATGTCCACAGACACC	0.438																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000170471						171	145	154					20																	37150191		2203	4300	6503	RALGAPB	SO:0001583	missense	0			-	HGNC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1469C>T	20.37:g.37150191C>T	ENSP00000262879:p.Ser490Phe	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	74	30.19	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP							superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.S490F	ENST00000262879.6	37	c.1469	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440092	0.63067	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.69078	0.994;0.994;0.997;0.994	D;D;D;D	0.80764	0.989;0.989;0.994;0.989	T	0.66563	-0.5892	9	0.11794	T	0.64	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	318;490;490;490	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	490;490;490;268;490;318	.	ENSP00000262879:S490F	S	+	2	0	RALGAPB	36583605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.826000	0.97356	0.561000	0.74099	TCC	-	NULL		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	protein_coding	OTTHUMT00000079191.1	C	NM_020336	-		37150191	1	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37150191	C	T	37150191	3	4	112	1	0	0	0	0	1	0	0	0	13023	855	30	2	1503	2	RALGAPB	20	37150191	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3057823	37150191	25875329	972	8467											
DHX35	60625	genome.wustl.edu	37	chr20	37650563	37650563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtggtccccccaaaCcagaagtctcacgcagtaag	8	13	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:37650563C>T	ENST00000252011.3	+	16	1611	c.1578C>T	c.(1576-1578)aaC>aaT	p.N526N	DHX35_ENST00000373323.4_Silent_p.N495N|DHX35_ENST00000373325.2_Silent_p.N526N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	526					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCCCCCAAACCAGAAGTCTC	0.463																																																	0								ENSG00000101452						134	127	129					20																	37650563		2203	4300	6503	DHX35	SO:0001819	synonymous_variant	0			-	HGNC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1578C>T	20.37:g.37650563C>T		Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	49	44.32	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N526	ENST00000252011.3	37	c.1578	CCDS13310.1	20																																																																																			-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom		0.463	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	protein_coding	OTTHUMT00000079212.2	C	NM_021931	-		37650563	1	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	SNP	1.000	T	T	37650563	C	T	37650563	2	4	112	1	0	0	0	0	0	0	0	1	4510	506	18	2		2	DHX35	20	37650563	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	500372	37650563	25374957	973	8468											
CHD6	84181	genome.wustl.edu	37	chr20	40033678	40033678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcggcttgtcttccgcaGtcttttcagtcactgccgta	8	13	4	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:40033678G>A	ENST00000373233.3	-	37	7880	c.7703C>T	c.(7702-7704)aCt>aTt	p.T2568I	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2568					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCTTCCGCAGTCTTTTCAGT	0.522																																																	0								ENSG00000124177						142	140	140					20																	40033678		2203	4300	6503	CHD6	SO:0001583	missense	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7703C>T	20.37:g.40033678G>A	ENSP00000362330:p.Thr2568Ile	Somatic	0	77	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	74	33.33	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T2568I	ENST00000373233.3	37	c.7703	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689853	0.14973	.	.	ENSG00000124177	ENST00000373233	D	0.86769	-2.17	5.65	4.69	0.59074	.	0.224217	0.31784	N	0.007066	D	0.83147	0.5191	L	0.43923	1.385	0.80722	D	1	B	0.20671	0.047	B	0.16722	0.016	T	0.80894	-0.1178	10	0.66056	D	0.02	-5.2055	14.4895	0.67642	0.0:0.0:0.7327:0.2673	.	2568	Q8TD26	CHD6_HUMAN	I	2568	ENSP00000362330:T2568I	ENSP00000362330:T2568I	T	-	2	0	CHD6	39467092	1.000000	0.71417	0.917000	0.36280	0.089000	0.18198	5.376000	0.66178	1.607000	0.50170	-0.181000	0.13052	ACT	-	NULL		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	G		-		40033678	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	SNP	0.970	A	A	40033678	G	A	40033678	3	1	112	1	0	0	0	0	1	0	0	0	3331	1029	36	2	448	2	CHD6	20	40033678	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2383115	40033678	22991842	974	8469											
CHD6	84181	genome.wustl.edu	37	chr20	40162001	40162001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccactgtcctccatcCcattatgggatgtcattttc	5	15	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:40162001C>T	ENST00000373233.3	-	3	419	c.242G>A	c.(241-243)gGg>gAg	p.G81E	CHD6_ENST00000373222.3_Missense_Mutation_p.G116E|CHD6_ENST00000309279.7_Missense_Mutation_p.G81E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	81	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G81E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCCTCCATCCCATTATGGGA	0.488																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000124177						122	110	114					20																	40162001		2203	4300	6503	CHD6	SO:0001583	missense	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.242G>A	20.37:g.40162001C>T	ENSP00000362330:p.Gly81Glu	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	49	42.35	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G81E	ENST00000373233.3	37	c.242	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056307	0.76074	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94931	-2.04;-3.56;-1.49	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000009	D	0.95692	0.8599	L	0.34521	1.04	0.52501	D	0.999959	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.96	D	0.95601	0.8663	10	0.49607	T	0.09	-21.9848	19.6817	0.95967	0.0:1.0:0.0:0.0	.	116;81	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	E	81;81;116;81	ENSP00000362330:G81E;ENSP00000308684:G81E;ENSP00000362319:G116E	ENSP00000308684:G81E	G	-	2	0	CHD6	39595415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.101000	0.57769	2.653000	0.90120	0.650000	0.86243	GGG	-	NULL		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	C		-		40162001	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40162001	C	T	40162001	3	4	112	1	0	0	0	0	1	0	0	0	3331	623	22	2	8045	2	CHD6	20	40162001	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	128323	40162001	22863519	975	8470											
FITM2	128486	genome.wustl.edu	37	chr20	42935415	42935415	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttctgggacaagttgtgGaaataaacagctgtgcacag	11	8	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:42935415G>A	ENST00000396825.3	-	2	659	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	213					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						ACAAGTTGTGGAAATAAACAG	0.522																																																	0								ENSG00000197296						92	78	83					20																	42935415		2203	4300	6503	FITM2	SO:0001819	synonymous_variant	0			-	HGNC	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.639C>T	20.37:g.42935415G>A		Somatic	0	73	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	57	46.23	A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP							pfam_FIT	p.F213	ENST00000396825.3	37	c.639	CCDS33473.1	20																																																																																			-	pfam_FIT		0.522	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM2	protein_coding	OTTHUMT00000079342.2	G	XM_371399	-		42935415	-1	no_errors	ENST00000396825	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42935415	G	A	42935415	2	1	112	1	0	0	0	0	0	0	0	1	5901	1165	41	2		2	FITM2	20	42935415	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2773414	42935415	20090105	976	8471											
PIGT	51604	genome.wustl.edu	37	chr20	44045318	44045318	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctgtgggtctggttcCaagacactgtcactgagtga	13	9	2	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44045318C>T	ENST00000279036.6	+	2	429	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	PIGT_ENST00000543458.2_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000372689.5_Nonsense_Mutation_p.Q117*|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000535404.1_5'UTR	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	117					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GGTCTGGTTCCAAGACACTGT	0.597																																																	0								ENSG00000124155						55	45	48					20																	44045318		2203	4300	6503	PIGT	SO:0001587	stop_gained	0			-	HGNC		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.349C>T	20.37:g.44045318C>T	ENSP00000279036:p.Gln117*	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Nonsense_Mutation	SNP							pfam_PIG-T	p.Q117*	ENST00000279036.6	37	c.349	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.063924	0.98036	.	.	ENSG00000124155	ENST00000372689;ENST00000279036	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-12.2132	19.3629	0.94448	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000279036:Q117X	Q	+	1	0	PIGT	43478732	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.471000	0.80985	2.817000	0.96982	0.563000	0.77884	CAA	-	pfam_PIG-T		0.597	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	protein_coding	OTTHUMT00000079434.2	C	NM_015937	-		44045318	1	no_errors	ENST00000279036	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	44045318	C	T	44045318	4	4	112	1	0	0	0	0	0	1	0	0	11901	595	21	2	355	2	PIGT	20	44045318	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1109903	44045318	18980202	977	8472											
DNTTIP1	116092	genome.wustl.edu	37	chr20	44439823	44439823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtgctgttgaagcacctCcacagacctgaggccgggtc	12	13	0	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44439823C>T	ENST00000372622.3	+	13	1047	c.979C>T	c.(979-981)Cca>Tca	p.P327S	UBE2C_ENST00000356455.4_5'Flank|UBE2C_ENST00000243893.6_5'Flank|UBE2C_ENST00000372568.4_5'Flank|UBE2C_ENST00000335046.3_5'Flank|UBE2C_ENST00000352551.5_5'Flank|UBE2C_ENST00000405520.1_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	327						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TGAAGCACCTCCACAGACCTG	0.562																																																	0								ENSG00000101457						98	96	97					20																	44439823		2203	4300	6503	DNTTIP1	SO:0001583	missense	0			-	HGNC	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.979C>T	20.37:g.44439823C>T	ENSP00000361705:p.Pro327Ser	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP							NULL	p.P327S	ENST00000372622.3	37	c.979	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.592936|1.592936	0.28357|0.28357	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622|ENST00000456939	T|.	0.46451|.	0.87|.	5.78|5.78	0.251|0.251	0.15540|0.15540	.|.	0.247892|.	0.30723|.	N|.	0.009003|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.28618|0.28618	-1.0038|-1.0038	10|5	0.87932|.	D|.	0|.	-0.0177|-0.0177	7.0776|7.0776	0.25213|0.25213	0.0:0.4395:0.4063:0.1543|0.0:0.4395:0.4063:0.1543	.|.	327|.	Q9H147|.	TDIF1_HUMAN|.	S|F	327|277	ENSP00000361705:P327S|.	ENSP00000361705:P327S|.	P|S	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43873230|43873230	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.962000|0.962000	0.63368|0.63368	0.100000|0.100000	0.15231|0.15231	-0.155000|-0.155000	0.11098|0.11098	0.555000|0.555000	0.69702|0.69702	CCA|TCC	-	NULL		0.562	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	protein_coding	OTTHUMT00000079502.1	C	NM_052951	-		44439823	1	no_errors	ENST00000372622	ensembl	human	known	74_37	missense	SNP	0.001	T	T	44439823	C	T	44439823	3	4	112	1	0	0	0	0	1	0	0	0	4683	855	30	2	1029	2	DNTTIP1	20	44439823	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	394505	44439823	18585697	978	8473											
ZSWIM3	140831	genome.wustl.edu	37	chr20	44506223	44506223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggccgtgtttgtcacTtctgaagccagcctgaaaaa	12	10	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44506223T>C	ENST00000255152.2	+	2	1235	c.1026T>C	c.(1024-1026)acT>acC	p.T342T	ZSWIM3_ENST00000454862.2_Silent_p.T336T	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	342							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGTTTGTCACTTCTGAAGCCA	0.517																																																	0								ENSG00000132801						82	83	83					20																	44506223		2203	4300	6503	ZSWIM3	SO:0001819	synonymous_variant	0			-	HGNC	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1026T>C	20.37:g.44506223T>C		Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q9BR13	Silent	SNP							pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.T342	ENST00000255152.2	37	c.1026	CCDS13381.1	20																																																																																			-	NULL		0.517	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	protein_coding	OTTHUMT00000079540.1	T	NM_080752	-		44506223	1	no_errors	ENST00000255152	ensembl	human	known	74_37	silent	SNP	0.980	C	C	44506223	T	C	44506223	2	2	112	1	0	0	0	0	0	0	0	1	18249	1596	56	5		5	ZSWIM3	20	44506223	Silent	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	66400	44506223	18519297	979	8474											
SLC12A5	57468	genome.wustl.edu	37	chr20	44664103	44664103	+	Missense_Mutation	SNP	A	A	T													gtggcctggccaactacaccAacctgccccagggaagtagg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44664103A>T	ENST00000454036.2	+	3	326	c.277A>T	c.(277-279)Aac>Tac	p.N93Y	SLC12A5_ENST00000243964.3_Missense_Mutation_p.N70Y|SLC12A5_ENST00000608944.1_Missense_Mutation_p.N19Y|SLC12A5_ENST00000372315.1_Missense_Mutation_p.N70Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	93					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACTACACCAACCTGCCCCA	0.577																																																	0								ENSG00000124140						92	99	97					20																	44664103		2203	4300	6503	SLC12A5	SO:0001583	missense	0			-	HGNC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.277A>T	20.37:g.44664103A>T	ENSP00000387694:p.Asn93Tyr	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N93Y	ENST00000454036.2	37	c.277	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379489	0.82682	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95690	-2.0;-3.3;-3.78;-1.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.79784	0.984;0.993;0.957	D	0.97947	1.0329	10	0.72032	D	0.01	.	13.3322	0.60495	1.0:0.0:0.0:0.0	.	93;70;70	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	Y	93;70;70;70	ENSP00000387694:N93Y;ENSP00000361389:N70Y;ENSP00000446091:N70Y;ENSP00000243964:N70Y	ENSP00000243964:N70Y	N	+	1	0	SLC12A5	44097510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.695000	0.91298	2.019000	0.59389	0.460000	0.39030	AAC	-	tigrfam_Na/K/Cl_cotransptS		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	A		-		44664103	1	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44664103	A	T	44664103	3	4	112	1	0	0	0	0	1	0	0	0	14394	130	5	5	343	5	SLC12A5	20	44664103	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	157880	44664103	18361417	980	8475	144	2									
SLC12A5	57468	genome.wustl.edu	37	chr20	44664104	44664104	+	Missense_Mutation	SNP	A	A	C													tggcctggccaactacaccaAcctgccccagggaagtaggg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44664104A>C	ENST00000454036.2	+	3	327	c.278A>C	c.(277-279)aAc>aCc	p.N93T	SLC12A5_ENST00000243964.3_Missense_Mutation_p.N70T|SLC12A5_ENST00000608944.1_Missense_Mutation_p.N19T|SLC12A5_ENST00000372315.1_Missense_Mutation_p.N70T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	93					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACTACACCAACCTGCCCCAG	0.577																																																	0								ENSG00000124140						93	99	97					20																	44664104		2203	4300	6503	SLC12A5	SO:0001583	missense	0			-	HGNC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.278A>C	20.37:g.44664104A>C	ENSP00000387694:p.Asn93Thr	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N93T	ENST00000454036.2	37	c.278	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266945	0.80469	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95447	-1.92;-3.23;-3.71;-1.9	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.96466	0.8847	M	0.80982	2.52	0.80722	D	1	D;D;P	0.56035	0.974;0.958;0.93	P;P;P	0.54346	0.566;0.749;0.566	D	0.95758	0.8798	10	0.37606	T	0.19	.	13.3322	0.60495	1.0:0.0:0.0:0.0	.	93;70;70	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	T	93;70;70;70	ENSP00000387694:N93T;ENSP00000361389:N70T;ENSP00000446091:N70T;ENSP00000243964:N70T	ENSP00000243964:N70T	N	+	2	0	SLC12A5	44097511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.695000	0.91298	2.019000	0.59389	0.460000	0.39030	AAC	-	tigrfam_Na/K/Cl_cotransptS		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	A		-		44664104	1	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	SNP	1.000	C	C	44664104	A	C	44664104	3	2	112	1	0	0	0	0	1	0	0	0	14394	43	2	5	344	5	SLC12A5	20	44664104	Missense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	1	44664104	18361416	981	8476	144	2									
SULF2	55959	genome.wustl.edu	37	chr20	46300964	46300964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaagagttttttccgGcgtccggccaggctgagctt	12	10	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:46300964G>A	ENST00000359930.4	-	11	2405	c.1554C>T	c.(1552-1554)cgC>cgT	p.R518R	SULF2_ENST00000361612.4_Silent_p.R518R|SULF2_ENST00000467815.1_Silent_p.R518R|SULF2_ENST00000484875.1_Silent_p.R518R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	518					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 fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTTTTTTCCGGCGTCCGGCCA	0.607																																																	0								ENSG00000196562						73	71	72					20																	46300964		2203	4300	6503	SULF2	SO:0001819	synonymous_variant	0			-	HGNC	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1554C>T	20.37:g.46300964G>A		Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	33	44.26	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP							pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R518	ENST00000359930.4	37	c.1554	CCDS13408.1	20																																																																																			-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	protein_coding	OTTHUMT00000079606.1	G	NM_018837	-		46300964	-1	no_errors	ENST00000359930	ensembl	human	known	74_37	silent	SNP	0.917	A	A	46300964	G	A	46300964	2	1	112	1	0	0	0	0	0	0	0	1	15378	1190	42	2		2	SULF2	20	46300964	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1636860	46300964	16724556	982	8477											
KCNG1	3755	genome.wustl.edu	37	chr20	49620663	49620663	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgcgacttggttttgatGaggaactgcgccctccggaa	13	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:49620663G>T	ENST00000371571.4	-	3	1740	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	485					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGGTTTTGATGAGGAACTGCG	0.577																																																	0								ENSG00000026559						101	74	83					20																	49620663		2203	4300	6503	KCNG1	SO:0001819	synonymous_variant	0			-	HGNC	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1455C>A	20.37:g.49620663G>T		Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.L485	ENST00000371571.4	37	c.1455	CCDS13436.1	20																																																																																			-	NULL		0.577	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	protein_coding	OTTHUMT00000079726.4	G	NM_002237	-		49620663	-1	no_errors	ENST00000371571	ensembl	human	known	74_37	silent	SNP	0.969	T	T	49620663	G	T	49620663	2	4	112	1	0	0	0	0	0	0	0	1	8029	1277	45	3		3	KCNG1	20	49620663	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3319699	49620663	13404857	983	8478											
TSHZ2	128553	genome.wustl.edu	37	chr20	51870918	51870918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaagtgcctttgaaggaGccagtcccaaccatttcctc	7	13	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:51870918G>A	ENST00000371497.5	+	2	1808	c.921G>A	c.(919-921)gaG>gaA	p.E307E	TSHZ2_ENST00000603338.2_Silent_p.E304E|TSHZ2_ENST00000329613.6_Silent_p.E304E|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	307					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTTGAAGGAGCCAGTCCCAA	0.448																																																	0								ENSG00000182463						66	69	68					20																	51870918		2203	4300	6503	TSHZ2	SO:0001819	synonymous_variant	0			-	HGNC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.921G>A	20.37:g.51870918G>A		Somatic	0	194	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	134	31.98	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.E307	ENST00000371497.5	37	c.921	CCDS33490.1	20																																																																																			-	NULL		0.448	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	G	NM_173485	-		51870918	1	no_errors	ENST00000371497	ensembl	human	known	74_37	silent	SNP	1.000	A	A	51870918	G	A	51870918	2	1	112	1	0	0	0	0	0	0	0	1	16631	962	34	2		2	TSHZ2	20	51870918	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2250255	51870918	11154602	984	8479											
TSHZ2	128553	genome.wustl.edu	37	chr20	51872433	51872433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccccaaagccagcctcCtcctccagggtcccccccat	5	23	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:51872433C>T	ENST00000371497.5	+	2	3323	c.2436C>T	c.(2434-2436)tcC>tcT	p.S812S	TSHZ2_ENST00000603338.2_Silent_p.S809S|TSHZ2_ENST00000329613.6_Silent_p.S809S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	812					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCAGCCTCCTCCTCCAGGG	0.542																																																	0								ENSG00000182463						83	79	80					20																	51872433		2203	4300	6503	TSHZ2	SO:0001819	synonymous_variant	0			-	HGNC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2436C>T	20.37:g.51872433C>T		Somatic	0	41	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	77	23.00	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S812	ENST00000371497.5	37	c.2436	CCDS33490.1	20																																																																																			-	NULL		0.542	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	C	NM_173485	-		51872433	1	no_errors	ENST00000371497	ensembl	human	known	74_37	silent	SNP	0.000	T	T	51872433	C	T	51872433	2	4	112	1	0	0	0	0	0	0	0	1	16631	668	24	2		2	TSHZ2	20	51872433	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1515	51872433	11153087	985	8480											
CBLN4	140689	genome.wustl.edu	37	chr20	54573791	54573791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcagatattactggttttCcatttaacatcaagttaacc	6	8	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:54573791C>T	ENST00000064571.2	-	3	1728	c.428G>A	c.(427-429)gGa>gAa	p.G143E		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	143	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TACTGGTTTTCCATTTAACAT	0.358																																																	0								ENSG00000054803						61	59	59					20																	54573791		2203	4300	6503	CBLN4	SO:0001583	missense	0			-	HGNC	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.428G>A	20.37:g.54573791C>T	ENSP00000064571:p.Gly143Glu	Somatic	0	78	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	66	27.47	A8K0S5	Missense_Mutation	SNP							pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G143E	ENST00000064571.2	37	c.428	CCDS13448.1	20	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442828	0.43326	.	.	ENSG00000054803	ENST00000064571	T	0.44482	0.92	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.58925	1.835	0.80722	D	1	B	0.21381	0.055	B	0.24006	0.05	T	0.28396	-1.0045	10	0.37606	T	0.19	-7.0945	19.6506	0.95805	0.0:1.0:0.0:0.0	.	143	Q9NTU7	CBLN4_HUMAN	E	143	ENSP00000064571:G143E	ENSP00000064571:G143E	G	-	2	0	CBLN4	54007198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.640000	0.89533	0.591000	0.81541	GGA	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.358	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN4	protein_coding	OTTHUMT00000079783.2	C	NM_080617	-		54573791	-1	no_errors	ENST00000064571	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54573791	C	T	54573791	3	4	112	1	0	0	0	0	1	0	0	0	2709	855	30	2	181	2	CBLN4	20	54573791	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2701358	54573791	8451729	986	8481											
ZNF831	128611	genome.wustl.edu	37	chr20	57769470	57769470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccctccagcctggctcCttcctcactgccctcactcg	5	23	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:57769470C>T	ENST00000371030.2	+	1	3396	c.3396C>T	c.(3394-3396)tcC>tcT	p.S1132S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1132							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCTGGCTCCTTCCTCACTG	0.687																																																	0								ENSG00000124203						34	39	37					20																	57769470		1935	4126	6061	ZNF831	SO:0001819	synonymous_variant	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3396C>T	20.37:g.57769470C>T		Somatic	0	44	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	23	52.08	Q5TDR4|Q8TCP0	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1132	ENST00000371030.2	37	c.3396	CCDS42894.1	20																																																																																			-	NULL		0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	C	NM_178457	-		57769470	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	silent	SNP	0.214	T	T	57769470	C	T	57769470	2	4	112	1	0	0	0	0	0	0	0	1	18192	668	24	2		2	ZNF831	20	57769470	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3195679	57769470	5256050	987	8482											
ZNF831	128611	genome.wustl.edu	37	chr20	57770975	57770975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaccaggtgtctgagCcagaatggaagaaaggcctg	13	11	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:57770975C>T	ENST00000371030.2	+	2	3790	c.3790C>T	c.(3790-3792)Cca>Tca	p.P1264S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1264							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGTCTGAGCCAGAATGGAA	0.507																																																	0								ENSG00000124203						180	179	179					20																	57770975		1937	4150	6087	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3790C>T	20.37:g.57770975C>T	ENSP00000360069:p.Pro1264Ser	Somatic	0	118	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	67	46.83	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1264S	ENST00000371030.2	37	c.3790	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150415	0.37923	.	.	ENSG00000124203	ENST00000371030	T	0.07114	3.22	5.37	5.37	0.77165	.	0.376195	0.23096	N	0.051962	T	0.20618	0.0496	L	0.50333	1.59	0.09310	N	0.999997	D	0.69078	0.997	P	0.60173	0.87	T	0.01643	-1.1305	10	0.72032	D	0.01	-11.1484	14.9668	0.71201	0.0:1.0:0.0:0.0	.	1264	Q5JPB2	ZN831_HUMAN	S	1264	ENSP00000360069:P1264S	ENSP00000360069:P1264S	P	+	1	0	ZNF831	57204370	0.737000	0.28175	0.082000	0.20525	0.019000	0.09904	2.480000	0.45206	2.677000	0.91161	0.655000	0.94253	CCA	-	NULL		0.507	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	C	NM_178457	-		57770975	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.162	T	T	57770975	C	T	57770975	3	4	112	1	0	0	0	0	1	0	0	0	18192	739	26	2	3796	2	ZNF831	20	57770975	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1505	57770975	5254545	988	8483											
PRIC285	85441	genome.wustl.edu	37	chr20	62195066	62195066	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcctggcagagcccatcGatgtccctggcagagtaggc	14	12	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:62195066G>A	ENST00000467148.1	-	8	5178	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	HELZ2_ENST00000427522.2_Silent_p.I1134I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1703					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGAGCCCATCGATGTCCCTGG	0.692																																																	0								ENSG00000130589						12	14	13					20																	62195066		2176	4283	6459	HELZ2	SO:0001819	synonymous_variant	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5109C>T	20.37:g.62195066G>A		Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	55	27.63	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP							superfamily_P-loop_NTPase	p.I1703	ENST00000467148.1	37	c.5109	CCDS33508.1	20																																																																																			-	NULL		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	G	NM_001037335	-		62195066	-1	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	SNP	0.072	A	A	62195066	G	A	62195066	2	1	112	1	0	0	0	0	0	0	0	1	12490	1048	37	1		1	PRIC285	20	62195066	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4424091	62195066	830454	989	8484											
TPTE	7179	genome.wustl.edu	37	chr21	10906904	10906904	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggaagggggagctataCttaatcggatccagctacaa	13	7	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:10906904C>T	ENST00000361285.4	-	0	1986				TPTE_ENST00000298232.7_3'UTR|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_3'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GGGAGCTATACTTAATCGGAT	0.393																																																	0								ENSG00000166157						124	110	115					21																	10906904		2203	4300	6503	TPTE	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.*1G>A	21.37:g.10906904C>T		Somatic	0	243	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	219	14.45	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP							-	NULL	ENST00000361285.4	37	NULL	CCDS13560.2	21																																																																																			-	-		0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	C		-		10906904	-1	no_errors	ENST00000415664	ensembl	human	known	74_37	rna	SNP	0.008	T	T	10906904	C	T	10906904	1	4	112	0	1	0	0	0	0	0	0	0	16437	580	20	2		2	TPTE	21	10906904	3'UTR	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		10906904	37222991	990	8485											
TPTE	7179	genome.wustl.edu	37	chr21	10916378	10916378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagcacttacgaggaatcGaataaataatgaagtgtttt	8	4	0	1	rs570468666		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:10916378G>A	ENST00000361285.4	-	20	1597	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_ENST00000298232.7_Missense_Mutation_p.S405L|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.S385L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	423	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S405L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACGAGGAATCGAATAAATAAT	0.388													.|||	1	0.000199681	8e-04	0	5008	,	,		47548	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	large_intestine(2)						ENSG00000166157																																			TPTE	SO:0001583	missense	0			-	HGNC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1268C>T	21.37:g.10916378G>A	ENSP00000355208:p.Ser423Leu	Somatic	0	471	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	475	12.52	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S423L	ENST00000361285.4	37	c.1268	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374557	0.42105	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86562	-2.14;-2.14;-2.14	1.79	1.79	0.24919	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062472	0.64402	D	0.000003	D	0.90892	0.7138	M	0.81942	2.565	0.46028	D	0.998829	D;D;D	0.71674	0.998;0.998;0.978	D;D;P	0.65323	0.934;0.934;0.739	D	0.89728	0.3924	10	0.62326	D	0.03	-4.5869	7.1115	0.25392	0.0:0.0:1.0:0.0	.	385;405;423	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	405;423;385	ENSP00000298232:S405L;ENSP00000355208:S423L;ENSP00000344441:S385L	ENSP00000298232:S405L	S	-	2	0	TPTE	9938249	0.992000	0.36948	0.708000	0.30435	0.064000	0.16182	2.621000	0.46418	1.313000	0.45069	0.184000	0.17185	TCG	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	G		-		10916378	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	SNP	0.790	A	A	10916378	G	A	10916378	3	1	112	1	0	0	0	0	1	0	0	0	16437	1059	37	1	407	1	TPTE	21	10916378	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	9474	10916378	37213517	991	8486											
POTED	317754	genome.wustl.edu	37	chr21	14983026	14983026	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagaaaggatctcatcgtCatgctcagggacactgacat	9	12	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:14983026C>T	ENST00000299443.5	+	1	529	c.477C>T	c.(475-477)gtC>gtT	p.V159V		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	159						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ATCTCATCGTCATGCTCAGGG	0.572																																																	0								ENSG00000166351						9	15	14					21																	14983026		684	2945	3629	POTED	SO:0001819	synonymous_variant	0			-	HGNC	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.477C>T	21.37:g.14983026C>T		Somatic	0	101	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	107	43	71.33	C9JCF7	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V159	ENST00000299443.5	37	c.477	CCDS13562.1	21																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.572	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	protein_coding	OTTHUMT00000157660.1	C	NM_174981	-		14983026	1	no_errors	ENST00000299443	ensembl	human	known	74_37	silent	SNP	0.001	T	T	14983026	C	T	14983026	2	4	112	1	0	0	0	0	0	0	0	1	12265	813	29	2		2	POTED	21	14983026	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4066648	14983026	33146869	992	8487											
RBM11	54033	genome.wustl.edu	37	chr21	15599387	15599387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagatgacagctccacttCctaatagtgcatccgtgtct	7	12	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:15599387C>T	ENST00000400577.3	+	5	628	c.619C>T	c.(619-621)Cct>Tct	p.P207S	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	207					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGCTCCACTTCCTAATAGTGC	0.458																																																	0								ENSG00000185272						342	321	328					21																	15599387		1980	4157	6137	RBM11	SO:0001583	missense	0			-	HGNC	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.619C>T	21.37:g.15599387C>T	ENSP00000383421:p.Pro207Ser	Somatic	0	120	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	74	38.84	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P207S	ENST00000400577.3	37	c.619	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983167	0.18889	.	.	ENSG00000185272	ENST00000400577	T	0.10099	2.91	3.54	1.45	0.22620	.	.	.	.	.	T	0.03651	0.0104	N	0.14661	0.345	0.19575	N	0.999968	P	0.48764	0.915	B	0.36666	0.23	T	0.12734	-1.0536	9	0.07482	T	0.82	.	2.6638	0.05034	0.2281:0.517:0.0:0.2549	.	207	P57052	RBM11_HUMAN	S	207	ENSP00000383421:P207S	ENSP00000383421:P207S	P	+	1	0	RBM11	14521258	0.044000	0.20184	0.945000	0.38365	0.412000	0.31113	0.112000	0.15479	0.773000	0.33404	-0.259000	0.10710	CCT	-	NULL		0.458	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	protein_coding	OTTHUMT00000157818.1	C	NM_144770	-		15599387	1	no_errors	ENST00000400577	ensembl	human	known	74_37	missense	SNP	0.552	T	T	15599387	C	T	15599387	3	4	112	1	0	0	0	0	1	0	0	0	13120	855	30	2	637	2	RBM11	21	15599387	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	616361	15599387	32530508	993	8488											
RNF160	26046	genome.wustl.edu	37	chr21	30303544	30303544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagggaatagttgaaaCcgtgaatgactgagaaacag	14	4	0	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:30303544C>T	ENST00000361371.5	-	29	5250	c.5171G>A	c.(5170-5172)gGt>gAt	p.G1724D	LTN1_ENST00000389194.2_Missense_Mutation_p.G1770D			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1724					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATAGTTGAAACCGTGAATGAC	0.353																																																	0								ENSG00000198862						138	134	135					21																	30303544		2203	4300	6503	LTN1	SO:0001583	missense	0			-	HGNC	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5171G>A	21.37:g.30303544C>T	ENSP00000354977:p.Gly1724Asp	Somatic	0	111	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	71	20.22	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.G1770D	ENST00000361371.5	37	c.5309		21	.	.	.	.	.	.	.	.	.	.	C	33	5.223163	0.95139	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.66099	-0.19;-0.19	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	N	0.10664	0.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65977	-0.6037	10	0.30854	T	0.27	.	19.1643	0.93548	0.0:1.0:0.0:0.0	.	1724	O94822	LTN1_HUMAN	D	1770;1724	ENSP00000373846:G1770D;ENSP00000354977:G1724D	ENSP00000354977:G1724D	G	-	2	0	LTN1	29225415	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.259000	0.78381	2.758000	0.94735	0.591000	0.81541	GGT	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	protein_coding	OTTHUMT00000472108.1	C	NM_015565	-		30303544	-1	no_errors	ENST00000389194	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30303544	C	T	30303544	3	4	112	1	0	0	0	0	1	0	0	0	13463	507	18	2	137	2	RNF160	21	30303544	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	14704157	30303544	17826351	994	8489											
RNF160	26046	genome.wustl.edu	37	chr21	30358501	30358501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttggccaatatggaagaaCtcctttcacagtttctgtgt	8	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:30358501C>A	ENST00000361371.5	-	3	383	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	LTN1_ENST00000389194.2_Missense_Mutation_p.V148F|LTN1_ENST00000389195.2_Missense_Mutation_p.V148F			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	102					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATGGAAGAACTCCTTTCACA	0.323																																																	0								ENSG00000198862						64	65	65					21																	30358501		2202	4300	6502	LTN1	SO:0001583	missense	0			-	HGNC	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.304G>T	21.37:g.30358501C>A	ENSP00000354977:p.Val102Phe	Somatic	0	194	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	111	38.33	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.V148F	ENST00000361371.5	37	c.442		21	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374436	0.82573	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.67345	3.57;3.57;-0.26	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.77791	0.4183	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.75769	-0.3201	10	0.27785	T	0.31	.	16.7488	0.85480	0.0:1.0:0.0:0.0	.	102	O94822	LTN1_HUMAN	F	148;102;104;148	ENSP00000373846:V148F;ENSP00000354977:V102F;ENSP00000373847:V148F	ENSP00000354977:V102F	V	-	1	0	LTN1	29280372	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.429000	0.52800	2.190000	0.69967	0.467000	0.42956	GTT	-	superfamily_ARM-type_fold		0.323	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	protein_coding	OTTHUMT00000472108.1	C	NM_015565	-		30358501	-1	no_errors	ENST00000389194	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30358501	C	A	30358501	3	1	112	1	0	0	0	0	1	0	0	0	13463	565	20	3	5108	3	RNF160	21	30358501	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	54957	30358501	17771394	995	8490											
GRIK1	2897	genome.wustl.edu	37	chr21	31045377	31045377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttgcctttcttcatctCcttgagtaaaggcttggcat	7	12	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:31045377C>T	ENST00000399907.1	-	4	1063	c.652G>A	c.(652-654)Gag>Aag	p.E218K	GRIK1_ENST00000535441.1_Missense_Mutation_p.E218K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E218K|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.E218K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E218K|GRIK1_ENST00000399914.1_Missense_Mutation_p.E218K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E218K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E218K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E218K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	218					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTCTTCATCTCCTTGAGTAAA	0.443																																																	0								ENSG00000171189						143	151	148					21																	31045377		2203	4300	6503	GRIK1	SO:0001583	missense	0			-	HGNC		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.652G>A	21.37:g.31045377C>T	ENSP00000382791:p.Glu218Lys	Somatic	0	67	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	Q13001|Q86SU9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E218K	ENST00000399907.1	37	c.652	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	35	5.435923	0.96168	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.71674	0.981;0.991;0.998;0.991;0.991;0.988	D;D;D;D;D;P	0.66351	0.915;0.915;0.943;0.915;0.915;0.862	D	0.92560	0.6057	10	0.87932	D	0	.	19.0293	0.92948	0.0:1.0:0.0:0.0	.	218;218;218;218;218;218	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	K	218;218;218;218;218;162;218;218;218;218	ENSP00000327687:E218K;ENSP00000373777:E218K;ENSP00000382797:E218K;ENSP00000382798:E218K;ENSP00000446326:E218K;ENSP00000373776:E218K;ENSP00000382791:E218K;ENSP00000382793:E218K;ENSP00000311646:E218K	ENSP00000311646:E218K	E	-	1	0	GRIK1	29967248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	2.815000	0.96918	0.650000	0.86243	GAG	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.443	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	protein_coding	OTTHUMT00000171979.1	C		-		31045377	-1	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31045377	C	T	31045377	3	4	112	1	0	0	0	0	1	0	0	0	6775	864	30	2	2320	2	GRIK1	21	31045377	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	686876	31045377	17084518	996	8491											
KRTAP13-4	284827	genome.wustl.edu	37	chr21	31802671	31802671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacccaggctcctacccCagcagcctggtctacagcac	7	18	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:31802671C>T	ENST00000334068.2	+	1	100	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	26						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GCTCCTACCCCAGCAGCCTGG	0.592																																					NSCLC(196;2401 3038 18004 35753)												0								ENSG00000186971						88	90	89					21																	31802671		2203	4300	6503	KRTAP13-4	SO:0001819	synonymous_variant	0			-	HGNC	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.78C>T	21.37:g.31802671C>T		Somatic	0	70	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	A2RRL3	Silent	SNP							pfam_KRTAP_PMG	p.P26	ENST00000334068.2	37	c.78	CCDS13592.1	21																																																																																			-	pfam_KRTAP_PMG		0.592	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-4	protein_coding	OTTHUMT00000128222.1	C		-		31802671	1	no_errors	ENST00000334068	ensembl	human	known	74_37	silent	SNP	0.992	T	T	31802671	C	T	31802671	2	4	112	1	0	0	0	0	0	0	0	1	8527	581	21	2		2	KRTAP13-4	21	31802671	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	757294	31802671	16327224	997	8492											
DOPEY2	9980	genome.wustl.edu	37	chr21	37605117	37605117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggagccggtgattccaGttttccatcttggctgaagt	11	9	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:37605117G>T	ENST00000399151.3	+	15	2451	c.2366G>T	c.(2365-2367)aGt>aTt	p.S789I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	789					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						GGTGATTCCAGTTTTCCATCT	0.522																																																	0								ENSG00000142197						138	125	130					21																	37605117		2203	4300	6503	DOPEY2	SO:0001583	missense	0			-	HGNC	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.2366G>T	21.37:g.37605117G>T	ENSP00000382104:p.Ser789Ile	Somatic	0	65	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP							pfam_Dopey_N	p.S789I	ENST00000399151.3	37	c.2366	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777145	0.70107	.	.	ENSG00000142197	ENST00000399151	T	0.69175	-0.38	5.84	2.98	0.34508	.	0.409080	0.32578	N	0.005911	T	0.71264	0.3319	M	0.72118	2.19	0.18873	N	0.999986	P;P	0.52463	0.953;0.921	P;P	0.57057	0.812;0.653	T	0.60110	-0.7327	10	0.20519	T	0.43	.	7.4972	0.27496	0.1354:0.2592:0.6055:0.0	.	789;789	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	I	789	ENSP00000382104:S789I	ENSP00000382104:S789I	S	+	2	0	DOPEY2	36526987	0.031000	0.19500	0.010000	0.14722	0.706000	0.40770	1.798000	0.38814	0.338000	0.23692	0.650000	0.86243	AGT	-	NULL		0.522	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	G	NM_005128	-		37605117	1	no_errors	ENST00000399151	ensembl	human	known	74_37	missense	SNP	0.400	T	T	37605117	G	T	37605117	3	4	112	1	0	0	0	0	1	0	0	0	4710	1029	36	3	2420	3	DOPEY2	21	37605117	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5802446	37605117	10524778	998	8493											
KCNJ6	3763	genome.wustl.edu	37	chr21	39086812	39086812	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaacatcaggcacagtttCccatcccgcatggagatcac	9	14	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:39086812C>T	ENST00000609713.1	-	3	1237	c.648G>A	c.(646-648)ggG>ggA	p.G216G	KCNJ6_ENST00000288309.6_Silent_p.G216G|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	216					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)	GGCACAGTTTCCCATCCCGCA	0.507																																					Pancreas(48;379 1118 2936 19024 28214)												0								ENSG00000157542						66	64	65					21																	39086812		1933	4162	6095	KCNJ6	SO:0001819	synonymous_variant	0			-	HGNC	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.648G>A	21.37:g.39086812C>T		Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	Q3MJ74|Q53WW6	Silent	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.G216	ENST00000609713.1	37	c.648	CCDS42927.1	21																																																																																			-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.507	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	protein_coding	OTTHUMT00000194828.2	C	NM_002240	-		39086812	-1	no_errors	ENST00000288309	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39086812	C	T	39086812	2	4	112	1	0	0	0	0	0	0	0	1	8057	842	30	2		2	KCNJ6	21	39086812	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1481695	39086812	9043083	999	8494											
DSCAM	1826	genome.wustl.edu	37	chr21	41416186	41416186	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggcccagccttggcattCctcctggtggtgggatctgt	15	11	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:41416186C>T	ENST00000400454.1	-	31	5679	c.5202G>A	c.(5200-5202)agG>agA	p.R1734R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1734					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)				CCTTGGCATTCCTCCTGGTGG	0.592																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						68	75	73					21																	41416186		2131	4237	6368	DSCAM	SO:0001819	synonymous_variant	0			-	HGNC	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.5202G>A	21.37:g.41416186C>T		Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58	O60468	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1734	ENST00000400454.1	37	c.5202	CCDS42929.1	21																																																																																			-	NULL		0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41416186	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	1.000	T	T	41416186	C	T	41416186	2	4	112	1	0	0	0	0	0	0	0	1	4770	854	30	2		2	DSCAM	21	41416186	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2329374	41416186	6713709	1000	8495											
DSCAM	1826	genome.wustl.edu	37	chr21	41450707	41450707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctcataccaggtggcttCctgcaggtcatacaggatgt	11	11	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:41450707C>T	ENST00000400454.1	-	26	5095	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1540	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CAGGTGGCTTCCTGCAGGTCA	0.567																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						57	63	61					21																	41450707		2159	4278	6437	DSCAM	SO:0001583	missense	0			-	HGNC	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.4618G>A	21.37:g.41450707C>T	ENSP00000383303:p.Glu1540Lys	Somatic	0	53	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	O60468	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E1540K	ENST00000400454.1	37	c.4618	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990779	0.93106	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57907	0.37;0.37	4.85	4.85	0.62838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051216	0.85682	D	0.000000	T	0.61515	0.2353	M	0.82923	2.615	0.54753	D	0.999989	B	0.31655	0.334	B	0.37888	0.26	T	0.61272	-0.7096	10	0.21014	T	0.42	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	1540	O60469	DSCAM_HUMAN	K	1540;1292	ENSP00000383303:E1540K;ENSP00000385342:E1292K	ENSP00000383303:E1540K	E	-	1	0	DSCAM	40372577	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.684000	0.84104	2.397000	0.81536	0.563000	0.77884	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41450707	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41450707	C	T	41450707	3	4	112	1	0	0	0	0	1	0	0	0	4770	864	30	2	1452	2	DSCAM	21	41450707	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	34521	41450707	6679188	1001	8496											
PRDM15	63977	genome.wustl.edu	37	chr21	43221686	43221686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcagagccgctgacgGtatcaaaggtcacggtcagg	14	10	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43221686G>A	ENST00000269844.3	-	31	4348	c.4238C>T	c.(4237-4239)aCc>aTc	p.T1413I	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.T1047I|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1067I|PRDM15_ENST00000398548.1_Missense_Mutation_p.T1084I|PRDM15_ENST00000422911.1_Missense_Mutation_p.T1104I	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCCGCTGACGGTATCAAAGGT	0.572																																																	0								ENSG00000141956						66	59	62					21																	43221686		2203	4300	6503	PRDM15	SO:0001583	missense	0			-	HGNC	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4238C>T	21.37:g.43221686G>A	ENSP00000269844:p.Thr1413Ile	Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.T1413I	ENST00000269844.3	37	c.4238	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	g	14.98	2.696900	0.48202	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.29	4.29	0.51040	.	.	.	.	.	T	0.28632	0.0709	N	0.24115	0.695	0.43761	D	0.996275	P;P;P	0.50272	0.624;0.906;0.933	B;P;B	0.46585	0.12;0.521;0.386	T	0.16660	-1.0395	9	0.87932	D	0	-29.3512	15.7568	0.78037	0.0:0.0:1.0:0.0	.	1413;1104;1084	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	I	1104;1084;1067;1047;1413	ENSP00000408592:T1104I;ENSP00000381556:T1084I;ENSP00000444044:T1067I;ENSP00000390245:T1047I;ENSP00000269844:T1413I	ENSP00000269844:T1413I	T	-	2	0	PRDM15	42094755	1.000000	0.71417	0.944000	0.38274	0.301000	0.27625	9.105000	0.94246	1.934000	0.56057	0.558000	0.71614	ACC	-	NULL		0.572	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	protein_coding		G	NM_022115	-		43221686	-1	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	SNP	0.998	A	A	43221686	G	A	43221686	3	1	112	1	0	0	0	0	1	0	0	0	12461	1261	44	2	289	2	PRDM15	21	43221686	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1770979	43221686	4908209	1002	8497											
C2CD2	25966	genome.wustl.edu	37	chr21	43329576	43329576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcaacccaccttctgagGatcgcccagcctctgaaatc	7	16	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43329576G>A	ENST00000380486.3	-	8	1251	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S182F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	337	C2.					cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACCTTCTGAGGATCGCCCAGC	0.537																																																	0								ENSG00000157617						88	74	79					21																	43329576		2203	4300	6503	C2CD2	SO:0001583	missense	0			-	HGNC	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1010C>T	21.37:g.43329576G>A	ENSP00000369853:p.Ser337Phe	Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom	p.S337F	ENST00000380486.3	37	c.1010	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	G	7.270	0.606929	0.14002	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.76839	-1.05;-1.05	4.97	4.08	0.47627	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.698930	0.14637	N	0.307455	T	0.75774	0.3895	L	0.50333	1.59	0.09310	N	1	P;B	0.42161	0.772;0.317	P;B	0.49799	0.622;0.235	T	0.63093	-0.6714	10	0.09843	T	0.71	-2.1869	10.1803	0.42963	0.1583:0.0:0.8417:0.0	.	182;337	Q6P6D1;Q9Y426	.;CU025_HUMAN	F	182;337	ENSP00000329302:S182F;ENSP00000369853:S337F	ENSP00000329302:S182F	S	-	2	0	C2CD2	42202645	0.991000	0.36638	0.336000	0.25522	0.079000	0.17450	4.078000	0.57606	2.318000	0.78349	0.591000	0.81541	TCC	-	pfam_C2_dom,superfamily_C2_dom		0.537	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	protein_coding	OTTHUMT00000195228.2	G	NM_015500	-		43329576	-1	no_errors	ENST00000380486	ensembl	human	known	74_37	missense	SNP	0.034	A	A	43329576	G	A	43329576	3	1	112	1	0	0	0	0	1	0	0	0	2154	1174	41	2	1108	2	C2CD2	21	43329576	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	107890	43329576	4800319	1003	8498											
ZNF295	49854	genome.wustl.edu	37	chr21	43413656	43413656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcttattggtattggcCttgactgcaatgctaggaga	13	6	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43413656C>A	ENST00000310826.5	-	3	732	c.549G>T	c.(547-549)aaG>aaT	p.K183N	ZBTB21_ENST00000398499.1_Missense_Mutation_p.K183N|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K183N|ZBTB21_ENST00000398505.3_Missense_Mutation_p.K183N	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	183					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TGGTATTGGCCTTGACTGCAA	0.413																																																	0								ENSG00000173276						189	175	180					21																	43413656		2203	4300	6503	ZBTB21	SO:0001583	missense	0			-	HGNC	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.549G>T	21.37:g.43413656C>A	ENSP00000308759:p.Lys183Asn	Somatic	0	34	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K183N	ENST00000310826.5	37	c.549	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335319	0.81801	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08458	3.27;3.09;3.09;3.09	5.61	5.61	0.85477	.	0.469935	0.19300	N	0.117667	T	0.17323	0.0416	L	0.57536	1.79	0.37362	D	0.91126	P;D	0.58620	0.694;0.983	B;P	0.53266	0.436;0.722	T	0.01096	-1.1453	10	0.87932	D	0	-8.1421	10.7094	0.45973	0.0:0.8843:0.0:0.1157	.	183;183	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	N	183	ENSP00000381517:K183N;ENSP00000308759:K183N;ENSP00000381512:K183N;ENSP00000381523:K183N	ENSP00000308759:K183N	K	-	3	2	ZNF295	42286725	1.000000	0.71417	0.023000	0.16930	0.114000	0.19823	2.482000	0.45224	2.632000	0.89209	0.655000	0.94253	AAG	-	NULL		0.413	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB21	protein_coding	OTTHUMT00000195308.1	C	NM_020727	-		43413656	-1	no_errors	ENST00000310826	ensembl	human	known	74_37	missense	SNP	0.890	A	A	43413656	C	A	43413656	3	1	112	1	0	0	0	0	1	0	0	0	17834	680	24	3	2655	3	ZNF295	21	43413656	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	84080	43413656	4716239	1004	8499											
UMODL1	89766	genome.wustl.edu	37	chr21	43557616	43557616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttattgtggtggccatcttCgtgctggtggcgggaacagc	15	9	1	0	rs375378717		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43557616C>T	ENST00000408910.2	+	22	3843	c.3843C>T	c.(3841-3843)ttC>ttT	p.F1281F	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.F1337F|UMODL1_ENST00000400424.2_Silent_p.F1209F|UMODL1_ENST00000408989.2_Silent_p.F1409F	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1281					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGCCATCTTCGTGCTGGTGG	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		16107	0		0	False		,,,				2504	0				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0								ENSG00000177398	C	,,,	5,4125		0,5,2060	165	174	171		3843,4011,3627,4227	-6.1	0	21		171	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	0,5,6266	TT,TC,CC		0.0,0.1211,0.0399	,,,	1281/1319,1337/1375,1209/1247,1409/1447	43557616	5,12537	2065	4206	6271	UMODL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3843C>T	21.37:g.43557616C>T		Somatic	0	56	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP							pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.F1409	ENST00000408910.2	37	c.4227	CCDS42936.1	21																																																																																			-	NULL		0.547	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	protein_coding	OTTHUMT00000195292.2	C		-		43557616	1	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	SNP	0.000	T	T	43557616	C	T	43557616	2	4	112	1	0	0	0	0	0	0	0	1	16987	883	31	1		1	UMODL1	21	43557616	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	143960	43557616	4572279	1005	8500											
ABCG1	9619	genome.wustl.edu	37	chr21	43716300	43716300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcgaaggggtcatcctctCcatctatggcttagaccggg	12	11	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43716300C>T	ENST00000361802.2	+	15	1980	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	ABCG1_ENST00000347800.2_Missense_Mutation_p.S597F|ABCG1_ENST00000398437.1_Missense_Mutation_p.S758F|ABCG1_ENST00000398457.2_Missense_Mutation_p.S602F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.S600F|ABCG1_ENST00000340588.4_Missense_Mutation_p.S720F|ABCG1_ENST00000343687.3_Missense_Mutation_p.S611F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	612	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTCATCCTCTCCATCTATGGC	0.577																																																	0								ENSG00000160179						133	111	118					21																	43716300		2203	4300	6503	ABCG1	SO:0001583	missense	0			-	HGNC	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1835C>T	21.37:g.43716300C>T	ENSP00000354995:p.Ser612Phe	Somatic	0	88	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	52	31.58	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S758F	ENST00000361802.2	37	c.2273	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562195	0.65538	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	D;D;D;D;D;D;D	0.86865	-2.07;-2.07;-2.07;-2.04;-2.07;-2.18;-2.16	4.94	4.05	0.47172	.	0.065450	0.64402	D	0.000007	D	0.92974	0.7764	M	0.85777	2.775	0.58432	D	0.999999	D;P;D;P;P;B	0.57257	0.978;0.886;0.979;0.808;0.946;0.112	D;P;P;P;P;B	0.65323	0.934;0.8;0.877;0.642;0.8;0.048	D	0.93312	0.6685	9	.	.	.	-44.8413	13.5368	0.61652	0.0:0.9247:0.0:0.0753	.	623;611;612;600;597;602	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	F	602;597;600;612;611;758;720	ENSP00000381475:S602F;ENSP00000291524:S597F;ENSP00000381467:S600F;ENSP00000354995:S612F;ENSP00000339744:S611F;ENSP00000381464:S758F;ENSP00000343820:S720F	.	S	+	2	0	ABCG1	42589369	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	7.496000	0.81526	1.210000	0.43336	0.655000	0.94253	TCC	-	tigrfam_Pigment_permease		0.577	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	protein_coding	OTTHUMT00000195318.2	C	NM_207174	-		43716300	1	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43716300	C	T	43716300	3	4	112	1	0	0	0	0	1	0	0	0	68	855	30	2	2061	2	ABCG1	21	43716300	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	158684	43716300	4413595	1006	8501											
SIK1	150094	genome.wustl.edu	37	chr21	44839073	44839073	+	Silent	SNP	C	C	T													cttggggacacgggccggggCcggaacactccgctgcagct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:44839073C>T	ENST00000270162.6	-	11	1422	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	430			R -> W (in dbSNP:rs34164089).		cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CGGGCCGGGGCCGGAACACTC	0.667																																																	0								ENSG00000142178						17	21	20					21																	44839073		2183	4291	6474	SIK1	SO:0001819	synonymous_variant	0			-	HGNC	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1290G>A	21.37:g.44839073C>T		Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	88	24.79	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R430	ENST00000270162.6	37	c.1290	CCDS33575.1	21																																																																																			-	pirsf_Ser/Thr_kinase_SIK1/2		0.667	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	protein_coding	OTTHUMT00000195654.1	C	NM_173354	-		44839073	-1	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44839073	C	T	44839073	2	4	112	1	0	0	0	0	0	0	0	1	14325	726	26	2		2	SIK1	21	44839073	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1122773	44839073	3290822	1007	8502	145	2									
SIK1	150094	genome.wustl.edu	37	chr21	44839074	44839074	+	Missense_Mutation	SNP	C	C	T													ttggggacacgggccggggcCggaacactccgctgcagctg					rs143953116		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:44839074C>T	ENST00000270162.6	-	11	1421	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	430			R -> W (in dbSNP:rs34164089).		cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GGGCCGGGGCCGGAACACTCC	0.667																																																	0								ENSG00000142178	C	GLN/ARG	1,4367		0,1,2183	17	21	20		1289	-1.4	0	21	dbSNP_134	20	0,8582		0,0,4291	no	missense	SIK1	NM_173354.3	43	0,1,6474	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	430/784	44839074	1,12949	2184	4291	6475	SIK1	SO:0001583	missense	0			-	HGNC	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1289G>A	21.37:g.44839074C>T	ENSP00000270162:p.Arg430Gln	Somatic	0	94	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	86	25.22	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R430Q	ENST00000270162.6	37	c.1289	CCDS33575.1	21	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468279	0.26335	2.29E-4	0.0	ENSG00000142178	ENST00000270162	T	0.72394	-0.65	5.02	-1.4	0.08968	.	0.285645	0.36815	N	0.002390	T	0.54224	0.1845	M	0.68317	2.08	0.31262	N	0.69274	P	0.41784	0.762	B	0.27380	0.079	T	0.54036	-0.8353	10	0.46703	T	0.11	.	5.6685	0.17709	0.0:0.5096:0.1262:0.3643	.	430	P57059	SIK1_HUMAN	Q	430	ENSP00000270162:R430Q	ENSP00000270162:R430Q	R	-	2	0	SIK1	43663502	0.999000	0.42202	0.013000	0.15412	0.240000	0.25518	0.926000	0.28804	-0.691000	0.05135	0.561000	0.74099	CGG	-	pirsf_Ser/Thr_kinase_SIK1/2		0.667	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	protein_coding	OTTHUMT00000195654.1	C	NM_173354	rs143953116		44839074	-1	no_errors	ENST00000270162	ensembl	human	known	74_37	missense	SNP	0.999	T	T	44839074	C	T	44839074	3	4	112	1	0	0	0	0	1	0	0	0	14325	652	23	1	1078	1	SIK1	21	44839074	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	44839074	3290821	1008	8503	145	2									
AGPAT3	56894	genome.wustl.edu	37	chr21	45401061	45401061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactttcttggggtttgtGggagcaggtaatggacactg	15	6	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:45401061G>A	ENST00000398063.2	+	8	1527	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	AGPAT3_ENST00000327505.2_Silent_p.V345V|AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	345					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGGGTTTGTGGGAGCAGGTA	0.562																																					Pancreas(60;623 1650 5574 52796)												0								ENSG00000160216						127	108	114					21																	45401061		2203	4300	6503	AGPAT3	SO:0001819	synonymous_variant	0			-	HGNC	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1035G>A	21.37:g.45401061G>A		Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	30.19	D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.V345	ENST00000398063.2	37	c.1035	CCDS13703.1	21																																																																																			-	NULL		0.562	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	protein_coding	OTTHUMT00000195722.1	G	NM_020132	-		45401061	1	no_errors	ENST00000291572	ensembl	human	known	74_37	silent	SNP	0.775	A	A	45401061	G	A	45401061	2	1	112	1	0	0	0	0	0	0	0	1	388	1335	47	2		2	AGPAT3	21	45401061	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	561987	45401061	2728834	1009	8504											
KRTAP10-3	386682	genome.wustl.edu	37	chr21	45977988	45977988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacgcggaagagaggcggGagcacgtggggcggcagagg	22	8	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:45977988G>A	ENST00000391620.1	-	1	655	c.611C>T	c.(610-612)tCc>tTc	p.S204F	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	204	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGAGAGGCGGGAGCACGTGGG	0.687																																																	0								ENSG00000212935						27	33	31					21																	45977988		2197	4278	6475	KRTAP10-3	SO:0001583	missense	0			-	HGNC	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.611C>T	21.37:g.45977988G>A	ENSP00000375478:p.Ser204Phe	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	40	31.03	A3KN67|Q70LJ4	Missense_Mutation	SNP							NULL	p.S204F	ENST00000391620.1	37	c.611	CCDS42956.1	21	.	.	.	.	.	.	.	.	.	.	g	6.025	0.373049	0.11409	.	.	ENSG00000212935	ENST00000391620	T	0.00653	5.96	3.64	2.64	0.31445	.	.	.	.	.	T	0.00906	0.0030	M	0.73962	2.25	0.09310	N	0.999999	P	0.36438	0.553	B	0.27076	0.076	T	0.45454	-0.9260	9	0.66056	D	0.02	.	5.458	0.16602	0.0:0.2932:0.5108:0.196	.	204	P60369	KR103_HUMAN	F	204	ENSP00000375478:S204F	ENSP00000375478:S204F	S	-	2	0	KRTAP10-3	44802416	0.534000	0.26362	0.035000	0.18076	0.039000	0.13416	1.611000	0.36879	1.738000	0.51689	0.462000	0.41574	TCC	-	NULL		0.687	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	protein_coding	OTTHUMT00000128031.1	G		-		45977988	-1	no_errors	ENST00000391620	ensembl	human	known	74_37	missense	SNP	0.261	A	A	45977988	G	A	45977988	3	1	112	1	0	0	0	0	1	0	0	0	8512	1174	41	2	58	2	KRTAP10-3	21	45977988	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	576927	45977988	2151907	1010	8505											
COL18A1	80781	genome.wustl.edu	37	chr21	46876414	46876414	+	Missense_Mutation	SNP	G	G	A													ctaataactctgccctgctcGgggctgaccccgaggccccc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:46876414G>A	ENST00000359759.4	+	1	991	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	324					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGCCCTGCTCGGGGCTGACCC	0.667																																																	0								ENSG00000182871						38	42	41					21																	46876414		692	1591	2283	COL18A1	SO:0001583	missense	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.970G>A	21.37:g.46876414G>A	ENSP00000352798:p.Gly324Arg	Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	24.32	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G324R	ENST00000359759.4	37	c.970		21	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004744	0.35320	.	.	ENSG00000182871	ENST00000359759;ENST00000539645	D	0.90069	-2.61	4.65	-1.14	0.09741	.	1.640020	0.04396	N	0.363248	T	0.78710	0.4326	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.61088	-0.7133	9	0.33141	T	0.24	.	2.0211	0.03509	0.1518:0.1233:0.3467:0.3782	.	324	P39060	COIA1_HUMAN	R	324	ENSP00000352798:G324R	ENSP00000352798:G324R	G	+	1	0	COL18A1	45700842	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.525000	0.06214	-0.116000	0.11893	-0.195000	0.12781	GGG	-	NULL		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	G		-		46876414	1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	SNP	0.000	A	A	46876414	G	A	46876414	3	1	112	1	0	0	0	0	1	0	0	0	3677	1116	39	1	1086	1	COL18A1	21	46876414	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	898426	46876414	1253481	1011	8506	146	2									
COL18A1	80781	genome.wustl.edu	37	chr21	46876415	46876415	+	Missense_Mutation	SNP	G	G	A													taataactctgccctgctcgGggctgaccccgaggcccccg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:46876415G>A	ENST00000359759.4	+	1	992	c.971G>A	c.(970-972)gGg>gAg	p.G324E	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	324					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCTGCTCGGGGCTGACCCC	0.672																																																	0								ENSG00000182871						37	41	40					21																	46876415		692	1591	2283	COL18A1	SO:0001583	missense	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.971G>A	21.37:g.46876415G>A	ENSP00000352798:p.Gly324Glu	Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G324E	ENST00000359759.4	37	c.971		21	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877384	0.33162	.	.	ENSG00000182871	ENST00000359759;ENST00000539645	D	0.89875	-2.58	4.65	3.73	0.42828	.	1.640020	0.04396	N	0.363248	D	0.83133	0.5188	.	.	.	0.09310	N	1	B	0.34015	0.435	B	0.28305	0.088	T	0.71159	-0.4674	9	0.39692	T	0.17	.	9.5833	0.39501	0.0:0.1863:0.6775:0.1362	.	324	P39060	COIA1_HUMAN	E	324	ENSP00000352798:G324E	ENSP00000352798:G324E	G	+	2	0	COL18A1	45700843	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.212000	0.17497	1.074000	0.40909	0.591000	0.81541	GGG	-	NULL		0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	G		-		46876415	1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	SNP	0.001	A	A	46876415	G	A	46876415	3	1	112	1	0	0	0	0	1	0	0	0	3677	1232	43	2	1087	2	COL18A1	21	46876415	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	46876415	1253480	1012	8507	146	2									
C21orf56	84221	genome.wustl.edu	37	chr21	47588471	47588471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccggggaggtgtcgtcctCgctggacaggggggcatgtg	20	10	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:47588471C>T	ENST00000291672.5	-	3	1356	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	99																	GTGTCGTCCTCGCTGGACAGG	0.642																																																	0								ENSG00000160284						40	42	41					21																	47588471		692	1591	2283	SPATC1L	SO:0001583	missense	0			-	HGNC	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.295G>A	21.37:g.47588471C>T	ENSP00000291672:p.Glu99Lys	Somatic	0	32	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP							NULL	p.E99K	ENST00000291672.5	37	c.295	CCDS46653.1	21	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494625	0.26774	.	.	ENSG00000160284	ENST00000291672	T	0.44482	0.92	5.46	4.57	0.56435	.	0.126819	0.35555	N	0.003122	T	0.20333	0.0489	N	0.17082	0.46	0.35382	D	0.790032	P	0.35527	0.507	B	0.24155	0.051	T	0.23511	-1.0186	10	0.20519	T	0.43	-34.0125	9.1857	0.37170	0.0:0.9028:0.0:0.0972	.	99	Q9H0A9	CU056_HUMAN	K	99	ENSP00000291672:E99K	ENSP00000291672:E99K	E	-	1	0	C21orf56	46412899	0.843000	0.29541	0.943000	0.38184	0.096000	0.18686	1.274000	0.33132	2.568000	0.86640	0.467000	0.42956	GAG	-	NULL		0.642	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	protein_coding	OTTHUMT00000376654.1	C	NM_032261	-		47588471	-1	no_errors	ENST00000291672	ensembl	human	known	74_37	missense	SNP	0.937	T	T	47588471	C	T	47588471	3	4	112	1	0	0	0	0	1	0	0	0	2129	893	31	1	739	1	C21orf56	21	47588471	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	712056	47588471	541424	1013	8508											
PCNT	5116	genome.wustl.edu	37	chr21	47836528	47836528	+	Silent	SNP	G	G	A													tcccctgaggtcctcaggaaGgactggaccctggagccctg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:47836528G>A	ENST00000359568.5	+	30	6803	c.6696G>A	c.(6694-6696)aaG>aaA	p.K2232K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2232					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCTCAGGAAGGACTGGACCC	0.692																																																	0								ENSG00000160299						30	35	33					21																	47836528		2202	4298	6500	PCNT	SO:0001819	synonymous_variant	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6696G>A	21.37:g.47836528G>A		Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	52	40.91	O43152|Q7Z7C9	Silent	SNP							pfam_PACT_domain	p.K2232	ENST00000359568.5	37	c.6696	CCDS33592.1	21																																																																																			-	NULL		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	G	NM_006031	-		47836528	1	no_errors	ENST00000359568	ensembl	human	known	74_37	silent	SNP	0.990	A	A	47836528	G	A	47836528	2	1	112	1	0	0	0	0	0	0	0	1	11592	991	35	2		2	PCNT	21	47836528	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	248057	47836528	293367	1014	8509	147	2									
PCNT	5116	genome.wustl.edu	37	chr21	47836529	47836529	+	Missense_Mutation	SNP	G	G	A													cccctgaggtcctcaggaagGactggaccctggagccctgg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:47836529G>A	ENST00000359568.5	+	30	6804	c.6697G>A	c.(6697-6699)Gac>Aac	p.D2233N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2233					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCAGGAAGGACTGGACCCT	0.692																																																	0								ENSG00000160299						29	35	33					21																	47836529		2202	4298	6500	PCNT	SO:0001583	missense	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6697G>A	21.37:g.47836529G>A	ENSP00000352572:p.Asp2233Asn	Somatic	0	69	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	50	41.86	O43152|Q7Z7C9	Missense_Mutation	SNP							pfam_PACT_domain	p.D2233N	ENST00000359568.5	37	c.6697	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394664	0.62066	.	.	ENSG00000160299	ENST00000359568	T	0.02682	4.2	5.38	5.38	0.77491	.	0.225469	0.22714	N	0.056539	T	0.12263	0.0298	L	0.59436	1.845	0.35452	D	0.795792	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.976	T	0.01273	-1.1399	10	0.62326	D	0.03	.	14.9819	0.71316	0.0:0.0:1.0:0.0	.	2115;2233	O95613-2;O95613	.;PCNT_HUMAN	N	2233	ENSP00000352572:D2233N	ENSP00000352572:D2233N	D	+	1	0	PCNT	46660957	1.000000	0.71417	0.977000	0.42913	0.043000	0.13939	4.693000	0.61753	2.693000	0.91896	0.655000	0.94253	GAC	-	NULL		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	G	NM_006031	-		47836529	1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	SNP	0.992	A	A	47836529	G	A	47836529	3	1	112	1	0	0	0	0	1	0	0	0	11592	1174	41	2	6815	2	PCNT	21	47836529	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	47836529	293366	1015	8510	147	2									
CECR2	27443	genome.wustl.edu	37	chr22	18016892	18016892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctggaccccaattccccCatgagagaggaaaaaaagac	8	12	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:18016892C>T	ENST00000400585.2	+	10	1158	c.720C>T	c.(718-720)ccC>ccT	p.P240P	CECR2_ENST00000262608.8_Silent_p.P382P|CECR2_ENST00000342247.5_Silent_p.P353P|CECR2_ENST00000400573.5_Silent_p.P381P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	423					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)		CCAATTCCCCCATGAGAGAGG	0.483																																																	0								ENSG00000099954						96	98	97					22																	18016892		1869	4106	5975	CECR2	SO:0001819	synonymous_variant	0			-	HGNC	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.720C>T	22.37:g.18016892C>T		Somatic	0	151	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	113	24.67	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P381	ENST00000400585.2	37	c.1143		22																																																																																			-	superfamily_Bromodomain		0.483	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	C	NM_031413	-		18016892	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	SNP	0.003	T	T	18016892	C	T	18016892	2	4	112	1	0	0	0	0	0	0	0	1	3208	581	21	2		2	CECR2	22	18016892	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		18016892	33287674	1016	8511											
CECR2	27443	genome.wustl.edu	37	chr22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctaccaagcggcagagctCgttgtcagccagcgagtatc	12	12	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L|CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					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)		CGGCAGAGCTCGTTGTCAGCC	0.512																																																	0								ENSG00000099954						83	87	85					22																	18028909		1946	4144	6090	CECR2	SO:0001583	missense	0			-	HGNC	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.3440C>T	22.37:g.18028909C>T	ENSP00000383428:p.Ser1147Leu	Somatic	0	55	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	36	41.94	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S1289L	ENST00000400585.2	37	c.3866		22	.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	CECR2	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG	-	NULL		0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	C	NM_031413	-		18028909	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	0.031	T	T	18028909	C	T	18028909	3	4	112	1	0	0	0	0	1	0	0	0	3208	893	31	1	3930	1	CECR2	22	18028909	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	12017	18028909	33275657	1017	8512											
CECR2	27443	genome.wustl.edu	37	chr22	18029072	18029072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagggcttactcttcCcctgtggctgccctcccacc	8	20	1	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:18029072C>T	ENST00000400585.2	+	17	4041	c.3603C>T	c.(3601-3603)tcC>tcT	p.S1201S	CECR2_ENST00000262608.8_Silent_p.S1344S|CECR2_ENST00000400573.5_Silent_p.S1343S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1385					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)		CTTACTCTTCCCCTGTGGCTG	0.642																																																	0								ENSG00000099954						31	37	35					22																	18029072		1930	4119	6049	CECR2	SO:0001819	synonymous_variant	0			-	HGNC	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.3603C>T	22.37:g.18029072C>T		Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S1343	ENST00000400585.2	37	c.4029		22																																																																																			-	NULL		0.642	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	C	NM_031413	-		18029072	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	SNP	0.320	T	T	18029072	C	T	18029072	2	4	112	1	0	0	0	0	0	0	0	1	3208	610	22	2		2	CECR2	22	18029072	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	163	18029072	33275494	1018	8513											
RGL4	266747	genome.wustl.edu	37	chr22	24034331	24034331	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgggacgccagggcgcacGagggtctgtacagccctgct	16	12	1	0	rs148535347	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:24034331G>A	ENST00000290691.5	+	1	1284	c.114G>A	c.(112-114)acG>acA	p.T38T	GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	38					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGGGCGCACGAGGGTCTGTA	0.602													a|||	4	0.000798722	0.0023	0.0014	5008	,	,		18082	0		0	False		,,,				2504	0																0								ENSG00000159496	G		16,4390	24.3+/-50.5	0,16,2187	101	95	97		114	-4.2	0	22	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RGL4	NM_153615.1		0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307		38/474	24034331	17,12989	2203	4300	6503	RGL4	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.114G>A	22.37:g.24034331G>A		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	Q495L8	Silent	SNP							pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.T38	ENST00000290691.5	37	c.114	CCDS13811.1	22																																																																																			-	NULL		0.602	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	protein_coding	OTTHUMT00000319711.1	G	NM_153615	rs148535347		24034331	1	no_errors	ENST00000290691	ensembl	human	known	74_37	silent	SNP	0.000	A	A	24034331	G	A	24034331	2	1	112	1	0	0	0	0	0	0	0	1	13287	1045	37	1		1	RGL4	22	24034331	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6005259	24034331	27270235	1019	8514											
CABIN1	23523	genome.wustl.edu	37	chr22	24483564	24483564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgacagctccaacttgtcCctatggattgagtatggcac	9	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:24483564C>T	ENST00000398319.2	+	23	3808	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	CABIN1_ENST00000263119.5_Silent_p.S1141S|CABIN1_ENST00000405822.2_Silent_p.S1091S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1141					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAACTTGTCCCTATGGATTG	0.562																																																	0								ENSG00000099991						119	101	107					22																	24483564		2203	4300	6503	CABIN1	SO:0001819	synonymous_variant	0			-	HGNC	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3423C>T	22.37:g.24483564C>T		Somatic	0	46	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	G5E9F3|Q6PHY0|Q9Y460	Silent	SNP							pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1141	ENST00000398319.2	37	c.3423	CCDS13823.1	22																																																																																			-	NULL		0.562	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	protein_coding	OTTHUMT00000320161.2	C	NM_012295	-		24483564	1	no_errors	ENST00000263119	ensembl	human	known	74_37	silent	SNP	0.962	T	T	24483564	C	T	24483564	2	4	112	1	0	0	0	0	0	0	0	1	2530	610	22	2		2	CABIN1	22	24483564	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	449233	24483564	26821002	1020	8515											
SGSM1	129049	genome.wustl.edu	37	chr22	25255731	25255731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtccctgcaccagacgGctgacgtcatgaccttgaag	10	14	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:25255731G>A	ENST00000400359.4	+	9	857	c.850G>A	c.(850-852)Gct>Act	p.A284T	SGSM1_ENST00000400358.4_Missense_Mutation_p.A284T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	284						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCACCAGACGGCTGACGTCAT	0.587																																																	0								ENSG00000167037						99	101	100					22																	25255731		2076	4212	6288	SGSM1	SO:0001583	missense	0			-	HGNC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.850G>A	22.37:g.25255731G>A	ENSP00000383212:p.Ala284Thr	Somatic	0	89	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	60	31.46	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP							pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.A284T	ENST00000400359.4	37	c.850	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.067625	0.93898	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08008	3.14;3.15	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.995;0.991;0.997	D;D;D;P;D	0.77004	0.986;0.985;0.977;0.76;0.989	T	0.00670	-1.1617	10	0.44086	T	0.13	-1.7495	16.8706	0.86039	0.0:0.0:1.0:0.0	.	284;400;417;284;259	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	T	400;284;284	ENSP00000383211:A284T;ENSP00000383212:A284T	ENSP00000383211:A284T	A	+	1	0	SGSM1	23585731	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	9.262000	0.95591	2.286000	0.76751	0.655000	0.94253	GCT	-	NULL		0.587	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	protein_coding	OTTHUMT00000320282.1	G	XM_059318	-		25255731	1	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25255731	G	A	25255731	3	1	112	1	0	0	0	0	1	0	0	0	14230	1203	42	2	884	2	SGSM1	22	25255731	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	772167	25255731	26048835	1021	8516											
MYO18B	84700	genome.wustl.edu	37	chr22	26164851	26164851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtggggaggtttcctggGaagaaggagtaagtgggacg	19	3	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:26164851G>A	ENST00000407587.2	+	4	1137	c.968G>A	c.(967-969)gGa>gAa	p.G323E	MYO18B_ENST00000536101.1_Missense_Mutation_p.G323E|MYO18B_ENST00000335473.7_Missense_Mutation_p.G323E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	323						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						GGTTTCCTGGGAAGAAGGAGT	0.527																																																	0								ENSG00000133454						29	30	30					22																	26164851		1959	4149	6108	MYO18B	SO:0001583	missense	0			-	HGNC	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.968G>A	22.37:g.26164851G>A	ENSP00000386096:p.Gly323Glu	Somatic	0	129	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	79	25.47	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G323E	ENST00000407587.2	37	c.968		22	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941290	0.34283	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89343	-2.48;-2.48;-2.5	4.98	2.85	0.33270	.	0.471231	0.16207	N	0.224629	T	0.80215	0.4582	L	0.32530	0.975	0.09310	N	1	B;B;B	0.32829	0.267;0.386;0.386	B;B;B	0.31101	0.058;0.124;0.124	T	0.71407	-0.4602	10	0.72032	D	0.01	.	4.5306	0.12002	0.0838:0.153:0.605:0.1582	.	323;323;323	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	E	323	ENSP00000441229:G323E;ENSP00000334563:G323E;ENSP00000386096:G323E	ENSP00000334563:G323E	G	+	2	0	MYO18B	24494851	0.098000	0.21812	0.092000	0.20876	0.161000	0.22273	0.362000	0.20284	0.494000	0.27859	0.486000	0.48141	GGA	-	NULL		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	G	NM_032608	-		26164851	1	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	SNP	0.013	A	A	26164851	G	A	26164851	3	1	112	1	0	0	0	0	1	0	0	0	10068	1174	41	2	978	2	MYO18B	22	26164851	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	909120	26164851	25139715	1022	8517											
SEZ6L	23544	genome.wustl.edu	37	chr22	26709777	26709777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggggtggtattgtccCcaaactggcccgagccctac	13	13	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:26709777C>T	ENST00000248933.6	+	9	2019	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	SEZ6L_ENST00000343706.4_Missense_Mutation_p.P642S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P415S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P642S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P642S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P642S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P415S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGTATTGTCCCCAAACTGGCC	0.488																																																	0								ENSG00000100095						142	131	134					22																	26709777		2203	4300	6503	SEZ6L	SO:0001583	missense	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1924C>T	22.37:g.26709777C>T	ENSP00000248933:p.Pro642Ser	Somatic	0	82	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	65	26.14	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P642S	ENST00000248933.6	37	c.1924	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916404	0.92249	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.78	4.78	0.61160	CUB (5);	0.000000	0.56097	D	0.000029	T	0.72622	0.3483	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.77004	0.977;0.989;0.932;0.981;0.987;0.989;0.989	T	0.80710	-0.1261	10	0.87932	D	0	.	17.0225	0.86437	0.0:1.0:0.0:0.0	.	642;642;415;642;642;642;642	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	642;642;642;642;642;415;415	ENSP00000384772:P642S;ENSP00000437037:P642S;ENSP00000354185:P642S;ENSP00000248933:P642S;ENSP00000342661:P642S;ENSP00000384838:P415S;ENSP00000384733:P415S	ENSP00000248933:P642S	P	+	1	0	SEZ6L	25039777	1.000000	0.71417	0.906000	0.35671	0.947000	0.59692	7.183000	0.77697	2.492000	0.84095	0.655000	0.94253	CCA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.488	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		-		26709777	1	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26709777	C	T	26709777	3	4	112	1	0	0	0	0	1	0	0	0	14151	623	22	2	1958	2	SEZ6L	22	26709777	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	544926	26709777	24594789	1023	8518											
SEZ6L	23544	genome.wustl.edu	37	chr22	26743809	26743809	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgaccccggctatgacatCgtggggagtgacaccctcac	12	13	1	3	rs141377957		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:26743809C>T	ENST00000248933.6	+	11	2432	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	SEZ6L_ENST00000343706.4_Silent_p.I779I|SEZ6L_ENST00000403121.1_Silent_p.I552I|SEZ6L_ENST00000360929.3_Silent_p.I779I|SEZ6L_ENST00000529632.2_Silent_p.I779I|SEZ6L_ENST00000404234.3_Silent_p.I779I|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Silent_p.I552I			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	779	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.I779I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTATGACATCGTGGGGAGTG	0.557													C|||	1	0.000199681	0	0	5008	,	,		16135	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	pancreas(1)						ENSG00000100095	C	,,,,,	0,4406		0,0,2203	86	82	83		2337,2337,2337,2337,2337,2337	-0.9	1	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	779/1024,779/1014,779/1012,779/950,779/949,779/1025	26743809	1,13005	2203	4300	6503	SEZ6L	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2337C>T	22.37:g.26743809C>T		Somatic	0	170	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	96	33.79	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I779	ENST00000248933.6	37	c.2337	CCDS13833.1	22																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		rs141377957		26743809	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	SNP	0.995	T	T	26743809	C	T	26743809	2	4	112	1	0	0	0	0	0	0	0	1	14151	874	31	1		1	SEZ6L	22	26743809	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	34032	26743809	24560757	1024	8519											
GAL3ST1	9514	genome.wustl.edu	37	chr22	30951978	30951978	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgcgtcttcaagaacacGatgttgcgccgcggctggca	13	11	2	1	rs542690458		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:30951978G>A	ENST00000402321.1	-	3	551	c.234C>T	c.(232-234)atC>atT	p.I78I	GAL3ST1_ENST00000406955.1_Silent_p.I78I|GAL3ST1_ENST00000402369.1_Silent_p.I78I|GAL3ST1_ENST00000401975.1_Silent_p.I78I|GAL3ST1_ENST00000338911.5_Silent_p.I78I|GAL3ST1_ENST00000443111.2_Silent_p.I78I|GAL3ST1_ENST00000406361.1_Silent_p.I78I			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	78					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCAAGAACACGATGTTGCGCC	0.667													G|||	1	0.000199681	0	0	5008	,	,		13523	0		0.001	False		,,,				2504	0																0								ENSG00000128242						63	58	59					22																	30951978		2203	4300	6503	GAL3ST1	SO:0001819	synonymous_variant	0			-	HGNC	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.234C>T	22.37:g.30951978G>A		Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	Q96C63	Silent	SNP							pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.I78	ENST00000402321.1	37	c.234	CCDS13879.1	22																																																																																			-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase		0.667	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	protein_coding	OTTHUMT00000321745.1	G	NM_004861	-		30951978	-1	no_errors	ENST00000338911	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30951978	G	A	30951978	2	1	112	1	0	0	0	0	0	0	0	1	6199	1048	37	1		1	GAL3ST1	22	30951978	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	4208169	30951978	20352588	1025	8520											
SMTN	6525	genome.wustl.edu	37	chr22	31493284	31493284	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaccatgatgcaaaccAagaccttctcctcttcctcc	5	17	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:31493284A>T	ENST00000347557.2	+	16	2337	c.2119A>T	c.(2119-2121)Aag>Tag	p.K707*	SMTN_ENST00000333137.7_Nonsense_Mutation_p.K707*|SMTN_ENST00000404574.1_Nonsense_Mutation_p.K230*|SMTN_ENST00000358743.1_Nonsense_Mutation_p.K707*	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	707					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GATGCAAACCAAGACCTTCTC	0.572																																																	0								ENSG00000183963						151	137	142					22																	31493284		2203	4300	6503	SMTN	SO:0001587	stop_gained	0			-	HGNC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2119A>T	22.37:g.31493284A>T	ENSP00000328635:p.Lys707*	Somatic	0	26	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Nonsense_Mutation	SNP							pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K707*	ENST00000347557.2	37	c.2119	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163997	0.78339	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	.	.	.	3.92	3.92	0.45320	.	0.494765	0.15465	N	0.260919	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0705	12.0765	0.53647	1.0:0.0:0.0:0.0	.	.	.	.	X	707;707;707;705;730;108;230;87	.	ENSP00000329393:K705X	K	+	1	0	SMTN	29823284	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.074000	0.57577	1.739000	0.51704	0.329000	0.21502	AAG	-	NULL		0.572	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	protein_coding	OTTHUMT00000321766.1	A	NM_134270	-		31493284	1	no_errors	ENST00000347557	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	31493284	A	T	31493284	4	4	112	1	0	0	0	0	0	1	0	0	14822	131	5	5	2177	5	SMTN	22	31493284	Nonsense_Mutation	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	541306	31493284	19811282	1026	8521											
SLC5A1	6523	genome.wustl.edu	37	chr22	32445989	32445989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggcaggccgaagtatGgtgtggtggccggtaagttt	16	7	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:32445989G>A	ENST00000266088.4	+	2	445	c.195G>A	c.(193-195)atG>atA	p.M65I		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	65					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCCGAAGTATGGTGTGGTGGC	0.448																																																	0								ENSG00000100170						203	193	197					22																	32445989		2203	4300	6503	SLC5A1	SO:0001583	missense	0			-	HGNC		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.195G>A	22.37:g.32445989G>A	ENSP00000266088:p.Met65Ile	Somatic	0	125	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	95	27.48	B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.M65I	ENST00000266088.4	37	c.195	CCDS13902.1	22	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228878	0.58777	.	.	ENSG00000100170	ENST00000266088	D	0.88741	-2.42	5.55	5.55	0.83447	.	0.037021	0.85682	D	0.000000	D	0.88811	0.6538	M	0.70595	2.14	0.80722	D	1	B	0.17038	0.02	B	0.23852	0.049	D	0.85977	0.1480	10	0.62326	D	0.03	.	15.0099	0.71542	0.0:0.0:1.0:0.0	.	65	P13866	SC5A1_HUMAN	I	65	ENSP00000266088:M65I	ENSP00000266088:M65I	M	+	3	0	SLC5A1	30775989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.008000	0.70739	2.609000	0.88269	0.551000	0.68910	ATG	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.448	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	protein_coding	OTTHUMT00000075656.3	G	NM_000343	-		32445989	1	no_errors	ENST00000266088	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32445989	G	A	32445989	3	1	112	1	0	0	0	0	1	0	0	0	14669	1348	47	2	201	2	SLC5A1	22	32445989	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	952705	32445989	18858577	1027	8522											
CARD10	29775	genome.wustl.edu	37	chr22	37891942	37891942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaaggtgaggttggcacGaatgtagaagggctcggcac	17	7	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:37891942G>A	ENST00000403299.1	-	15	2344	c.2128C>T	c.(2128-2130)Cgt>Tgt	p.R710C	CARD10_ENST00000406271.3_Missense_Mutation_p.R424C|CARD10_ENST00000251973.5_Missense_Mutation_p.R710C			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	710					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGGTTGGCACGAATGTAGAAG	0.617																																																	0								ENSG00000100065						68	61	63					22																	37891942		2203	4300	6503	CARD10	SO:0001583	missense	0			-	HGNC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2128C>T	22.37:g.37891942G>A	ENSP00000384570:p.Arg710Cys	Somatic	0	42	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.R710C	ENST00000403299.1	37	c.2128	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876492	0.91664	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.69926	-0.44;1.27;-0.44;-0.33	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.82089	0.4961	M	0.79475	2.455	0.53688	D	0.999973	D;D	0.89917	0.999;1.0	P;D	0.83275	0.828;0.996	D	0.84859	0.0818	10	0.87932	D	0	-7.9086	16.4258	0.83814	0.0:0.0:1.0:0.0	.	710;424	Q9BWT7;Q8NC81	CAR10_HUMAN;.	C	710;424;710;351;182	ENSP00000384570:R710C;ENSP00000385799:R424C;ENSP00000251973:R710C;ENSP00000416239:R351C	ENSP00000251973:R710C	R	-	1	0	CARD10	36221888	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	6.772000	0.75001	2.289000	0.77006	0.561000	0.74099	CGT	-	NULL		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	protein_coding	OTTHUMT00000318997.1	G	NM_014550	-		37891942	-1	no_errors	ENST00000251973	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37891942	G	A	37891942	3	1	112	1	0	0	0	0	1	0	0	0	2646	1058	37	1	998	1	CARD10	22	37891942	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5445953	37891942	13412624	1028	8523											
BAIAP2L2	80115	genome.wustl.edu	37	chr22	38481696	38481696	+	Missense_Mutation	SNP	G	G	A													cccatgtgaggactcacctcGggaagagctcctgtggtggg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38481696G>A	ENST00000381669.3	-	13	1655	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L	SLC16A8_ENST00000320521.5_5'Flank|SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	504					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GACTCACCTCGGGAAGAGCTC	0.617																																																	0								ENSG00000128298						131	140	137					22																	38481696		1959	4144	6103	BAIAP2L2	SO:0001583	missense	0			-	HGNC	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1511C>T	22.37:g.38481696G>A	ENSP00000371085:p.Pro504Leu	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	31.71	B0QYE2|Q96BG7	Missense_Mutation	SNP							pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P504L	ENST00000381669.3	37	c.1511	CCDS43018.1	22	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860601	0.51482	.	.	ENSG00000128298	ENST00000381669;ENST00000402500	.	.	.	3.77	3.77	0.43336	.	0.128963	0.52532	D	0.000061	T	0.58779	0.2146	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.59894	-0.7368	9	0.02654	T	1	.	12.6721	0.56872	0.0:0.0:1.0:0.0	.	504	Q6UXY1	BI2L2_HUMAN	L	504;490	.	ENSP00000371085:P504L	P	-	2	0	BAIAP2L2	36811642	0.967000	0.33354	0.985000	0.45067	0.608000	0.37181	1.644000	0.37228	1.823000	0.53134	0.491000	0.48974	CCG	-	NULL		0.617	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	protein_coding	OTTHUMT00000321727.1	G	NM_025045	-		38481696	-1	no_errors	ENST00000381669	ensembl	human	known	74_37	missense	SNP	0.992	A	A	38481696	G	A	38481696	3	1	112	1	0	0	0	0	1	0	0	0	1303	1116	39	1	86	1	BAIAP2L2	22	38481696	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	589754	38481696	12822870	1029	8524	148	2									
BAIAP2L2	80115	genome.wustl.edu	37	chr22	38481697	38481697	+	Missense_Mutation	SNP	G	G	A													ccatgtgaggactcacctcgGgaagagctcctgtggtgggt							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38481697G>A	ENST00000381669.3	-	13	1654	c.1510C>T	c.(1510-1512)Ccg>Tcg	p.P504S	SLC16A8_ENST00000320521.5_5'Flank|SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	504					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					ACTCACCTCGGGAAGAGCTCC	0.622																																																	0								ENSG00000128298						132	142	138					22																	38481697		1959	4144	6103	BAIAP2L2	SO:0001583	missense	0			-	HGNC	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1510C>T	22.37:g.38481697G>A	ENSP00000371085:p.Pro504Ser	Somatic	0	30	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	33.33	B0QYE2|Q96BG7	Missense_Mutation	SNP							pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P504S	ENST00000381669.3	37	c.1510	CCDS43018.1	22	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410638	0.25465	.	.	ENSG00000128298	ENST00000381669;ENST00000402500	.	.	.	3.77	3.77	0.43336	.	0.128963	0.52532	D	0.000061	T	0.57710	0.2072	L	0.55834	1.745	0.80722	D	1	P	0.52577	0.954	P	0.47673	0.554	T	0.62895	-0.6757	9	0.54805	T	0.06	.	12.6721	0.56872	0.0:0.0:1.0:0.0	.	504	Q6UXY1	BI2L2_HUMAN	S	504;490	.	ENSP00000371085:P504S	P	-	1	0	BAIAP2L2	36811643	0.998000	0.40836	0.996000	0.52242	0.619000	0.37552	1.617000	0.36943	1.823000	0.53134	0.491000	0.48974	CCG	-	NULL		0.622	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	protein_coding	OTTHUMT00000321727.1	G	NM_025045	-		38481697	-1	no_errors	ENST00000381669	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38481697	G	A	38481697	3	1	112	1	0	0	0	0	1	0	0	0	1303	1232	43	2	87	2	BAIAP2L2	22	38481697	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	38481697	12822869	1030	8525	148	2									
TMEM184B	25829	genome.wustl.edu	37	chr22	38620870	38620870	+	Missense_Mutation	SNP	C	C	T													cagggctgcaaagaacatctCcacacagatgatgaagtcct							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38620870C>T	ENST00000361906.3	-	8	1112	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TMEM184B_ENST00000504337.1_5'Flank|TMEM184B_ENST00000361684.4_Missense_Mutation_p.E302K	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	302						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AAGAACATCTCCACACAGATG	0.622																																																	0								ENSG00000198792						66	53	57					22																	38620870		2203	4300	6503	TMEM184B	SO:0001583	missense	0			-	HGNC	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.904G>A	22.37:g.38620870C>T	ENSP00000355210:p.Glu302Lys	Somatic	0	40	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP							pfam_Ost-alpha	p.E302K	ENST00000361906.3	37	c.904	CCDS13969.2	22	.	.	.	.	.	.	.	.	.	.	C	35	5.447270	0.96205	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.74106	-0.81;-0.81	5.82	5.82	0.92795	.	0.047712	0.85682	D	0.000000	D	0.91740	0.7388	H	0.98048	4.135	0.80722	D	1	P	0.43314	0.803	P	0.59948	0.866	D	0.93549	0.6885	10	0.87932	D	0	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	302	Q9Y519	T184B_HUMAN	K	302	ENSP00000355210:E302K;ENSP00000354441:E302K	ENSP00000354441:E302K	E	-	1	0	TMEM184B	36950816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	2.756000	0.94617	0.561000	0.74099	GAG	-	pfam_Ost-alpha		0.622	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	protein_coding	OTTHUMT00000075445.4	C	NM_012264	-		38620870	-1	no_errors	ENST00000361684	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38620870	C	T	38620870	3	4	112	1	0	0	0	0	1	0	0	0	16112	864	30	2	327	2	TMEM184B	22	38620870	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	139173	38620870	12683696	1031	8526	149	2									
TMEM184B	25829	genome.wustl.edu	37	chr22	38620871	38620871	+	Silent	SNP	C	C	T													agggctgcaaagaacatctcCacacagatgatgaagtcctg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38620871C>T	ENST00000361906.3	-	8	1111	c.903G>A	c.(901-903)gtG>gtA	p.V301V	TMEM184B_ENST00000504337.1_5'Flank|TMEM184B_ENST00000361684.4_Silent_p.V301V	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	301						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AGAACATCTCCACACAGATGA	0.617																																																	0								ENSG00000198792						66	52	57					22																	38620871		2203	4300	6503	TMEM184B	SO:0001819	synonymous_variant	0			-	HGNC	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.903G>A	22.37:g.38620871C>T		Somatic	0	38	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Silent	SNP							pfam_Ost-alpha	p.V301	ENST00000361906.3	37	c.903	CCDS13969.2	22																																																																																			-	pfam_Ost-alpha		0.617	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	protein_coding	OTTHUMT00000075445.4	C	NM_012264	-		38620871	-1	no_errors	ENST00000361684	ensembl	human	known	74_37	silent	SNP	1.000	T	T	38620871	C	T	38620871	2	4	112	1	0	0	0	0	0	0	0	1	16112	581	21	2		2	TMEM184B	22	38620871	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1	38620871	12683695	1032	8527	149	2									
APOBEC3B	9582	genome.wustl.edu	37	chr22	39380212	39380212	+	Nonsense_Mutation	SNP	G	G	A													ggccgctcaaatctcctttgGgacacaggggtctttcgagg							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39380212G>A	ENST00000333467.3	+	2	195	c.150G>A	c.(148-150)tgG>tgA	p.W50*	APOBEC3B_ENST00000407298.3_Nonsense_Mutation_p.W50*|APOBEC3B_ENST00000402182.3_Nonsense_Mutation_p.W50*	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	50					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATCTCCTTTGGGACACAGGGG	0.488																																																	0								ENSG00000179750						51	55	54					22																	39380212		2198	4279	6477	APOBEC3B	SO:0001587	stop_gained	0			-	HGNC	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.150G>A	22.37:g.39380212G>A	ENSP00000327459:p.Trp50*	Somatic	0	108	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	73	23.16	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Nonsense_Mutation	SNP							pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.W50*	ENST00000333467.3	37	c.150	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	12.37	1.918909	0.33908	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	.	.	.	2.08	-3.08	0.05347	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	4.8495	0.13530	0.0:0.1561:0.5501:0.2938	.	.	.	.	X	50	.	ENSP00000327459:W50X	W	+	3	0	APOBEC3B	37710158	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.249000	0.01188	-0.727000	0.04888	0.411000	0.27672	TGG	-	pfam_APOBEC_N		0.488	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	protein_coding	OTTHUMT00000321233.1	G	NM_004900	-		39380212	1	no_errors	ENST00000333467	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	39380212	G	A	39380212	4	1	112	1	0	0	0	0	0	1	0	0	790	1241	43	2	156	2	APOBEC3B	22	39380212	Nonsense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	759341	39380212	11924354	1033	8528	150	2									
APOBEC3B	9582	genome.wustl.edu	37	chr22	39380213	39380213	+	Missense_Mutation	SNP	G	G	A													gccgctcaaatctcctttggGacacaggggtctttcgaggc							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39380213G>A	ENST00000333467.3	+	2	196	c.151G>A	c.(151-153)Gac>Aac	p.D51N	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.D51N|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.D51N	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	51					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TCTCCTTTGGGACACAGGGGT	0.493																																																	0								ENSG00000179750						51	55	54					22																	39380213		2198	4279	6477	APOBEC3B	SO:0001583	missense	0			-	HGNC	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.151G>A	22.37:g.39380213G>A	ENSP00000327459:p.Asp51Asn	Somatic	0	106	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	72	24.21	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP							pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.D51N	ENST00000333467.3	37	c.151	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	6.225	0.409594	0.11812	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64618	-0.11;-0.11;-0.11	2.07	-4.13	0.03904	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.45597	0.1350	L	0.53617	1.68	0.09310	N	1	P;B	0.41008	0.735;0.003	B;B	0.32980	0.156;0.014	T	0.31668	-0.9935	9	0.41790	T	0.15	.	5.2028	0.15275	0.0:0.4519:0.221:0.3271	.	51;51	B0QYD2;Q9UH17	.;ABC3B_HUMAN	N	51	ENSP00000385068:D51N;ENSP00000385060:D51N;ENSP00000327459:D51N	ENSP00000327459:D51N	D	+	1	0	APOBEC3B	37710159	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.835000	0.00354	-0.953000	0.03645	-0.534000	0.04291	GAC	-	pfam_APOBEC_N		0.493	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	protein_coding	OTTHUMT00000321233.1	G	NM_004900	-		39380213	1	no_errors	ENST00000333467	ensembl	human	known	74_37	missense	SNP	0.000	A	A	39380213	G	A	39380213	3	1	112	1	0	0	0	0	1	0	0	0	790	1174	41	2	157	2	APOBEC3B	22	39380213	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1	39380213	11924353	1034	8529	150	2									
APOBEC3G	60489	genome.wustl.edu	37	chr22	39479792	39479792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taacaatgaaccttgggtcaGaggacggcatgagacttacc	11	9	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39479792G>T	ENST00000407997.3	+	5	995	c.638G>T	c.(637-639)aGa>aTa	p.R213I	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R213I|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	213	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTTGGGTCAGAGGACGGCAT	0.532																																																	0								ENSG00000239713						127	106	113					22																	39479792		2203	4300	6503	APOBEC3G	SO:0001583	missense	0			-	HGNC	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.638G>T	22.37:g.39479792G>T	ENSP00000385057:p.Arg213Ile	Somatic	0	95	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	50	38.55	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP							pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R213I	ENST00000407997.3	37	c.638	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.800324	0.00611	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.58060	0.36;0.36	1.44	-2.87	0.05700	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.33000	0.0848	L	0.35341	1.055	0.09310	N	1	B	0.18310	0.027	B	0.23018	0.043	T	0.07751	-1.0756	9	0.23891	T	0.37	.	2.107	0.03694	0.1171:0.1366:0.3782:0.3681	.	213	Q9HC16	ABC3G_HUMAN	I	213	ENSP00000413376:R213I;ENSP00000385057:R213I	ENSP00000385057:R213I	R	+	2	0	APOBEC3G	37809738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.972000	0.01502	-3.770000	0.00109	-2.573000	0.00170	AGA	-	pfam_APOBEC_N		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	protein_coding	OTTHUMT00000321219.1	G	NM_021822	-		39479792	1	no_errors	ENST00000407997	ensembl	human	known	74_37	missense	SNP	0.000	T	T	39479792	G	T	39479792	3	4	112	1	0	0	0	0	1	0	0	0	794	942	33	3	656	3	APOBEC3G	22	39479792	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	99579	39479792	11824774	1035	8530											
ENTHD1	150350	genome.wustl.edu	37	chr22	40139967	40139967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttgggtggaaaactccCcccagtgactactagaaatg	9	10	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:40139967C>T	ENST00000325157.6	-	7	1791	c.1541G>A	c.(1540-1542)gGg>gAg	p.G514E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	514										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGAAAACTCCCCCCAGTGACT	0.418																																																	0								ENSG00000176177						51	52	51					22																	40139967		2203	4300	6503	ENTHD1	SO:0001583	missense	0			-	HGNC	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1541G>A	22.37:g.40139967C>T	ENSP00000317431:p.Gly514Glu	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	35	46.97	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP							pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.G514E	ENST00000325157.6	37	c.1541	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	4.201	0.036103	0.08148	.	.	ENSG00000176177	ENST00000325157	T	0.29655	1.56	5.75	-1.57	0.08506	.	1.128550	0.06851	N	0.797411	T	0.11707	0.0285	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20974	-1.0259	10	0.51188	T	0.08	0.375	1.2976	0.02073	0.3896:0.2713:0.2165:0.1226	.	514	Q8IYW4	ENTD1_HUMAN	E	514	ENSP00000317431:G514E	ENSP00000317431:G514E	G	-	2	0	ENTHD1	38469913	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.085000	0.11250	-0.732000	0.04856	-0.271000	0.10264	GGG	-	NULL		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	protein_coding	OTTHUMT00000321302.1	C	NM_152512	-		40139967	-1	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	SNP	0.000	T	T	40139967	C	T	40139967	3	4	112	1	0	0	0	0	1	0	0	0	5139	623	22	2	286	2	ENTHD1	22	40139967	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	660175	40139967	11164599	1036	8531											
SCUBE1	80274	genome.wustl.edu	37	chr22	43715970	43715970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgtccatcgtgtgccaGcatgaagccatcaaagcagg	12	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:43715970G>A	ENST00000360835.4	-	3	448	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	SCUBE1_ENST00000290460.7_Silent_p.L108L	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCGTGTGCCAGCATGAAGCCA	0.542																																																	0								ENSG00000159307						211	153	173					22																	43715970		2203	4300	6503	SCUBE1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.322C>T	22.37:g.43715970G>A		Somatic	0	68	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	48	34.25	Q5R336	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.L108	ENST00000360835.4	37	c.322	CCDS14048.1	22																																																																																			-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	protein_coding	OTTHUMT00000319582.3	G	NM_173050	-		43715970	-1	no_errors	ENST00000360835	ensembl	human	known	74_37	silent	SNP	1.000	A	A	43715970	G	A	43715970	2	1	112	1	0	0	0	0	0	0	0	1	13952	962	34	2		2	SCUBE1	22	43715970	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3576003	43715970	7588596	1037	8532											
SULT4A1	25830	genome.wustl.edu	37	chr22	44221920	44221920	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaggtcacactttcccatCttctgtttatacaccaagtc	6	12	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:44221920C>T	ENST00000330884.4	-	7	936	c.816G>A	c.(814-816)aaG>aaA	p.K272K	SULT4A1_ENST00000540422.1_Silent_p.K159K	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACTTTCCCATCTTCTGTTTAT	0.428																																																	0								ENSG00000130540						182	164	170					22																	44221920		2203	4300	6503	SULT4A1	SO:0001819	synonymous_variant	0			-	HGNC	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.816G>A	22.37:g.44221920C>T		Somatic	0	83	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	57	35.96	B2R7N3|O43728	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K272	ENST00000330884.4	37	c.816	CCDS14051.1	22																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.428	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	protein_coding	OTTHUMT00000280660.2	C	NM_014351	-		44221920	-1	no_errors	ENST00000330884	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44221920	C	T	44221920	2	4	112	1	0	0	0	0	0	0	0	1	15390	912	32	2		2	SULT4A1	22	44221920	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	505950	44221920	7082646	1038	8533											
IL17REL	400935	genome.wustl.edu	37	chr22	50436459	50436459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagcccctcaccttcaGgcagagctggggctgggtgt	16	12	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:50436459G>A	ENST00000389983.2	-	11	1078	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	IL17REL_ENST00000341280.5_Silent_p.L272L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	272										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACCTTCAGGCAGAGCTGG	0.706																																																	0								ENSG00000188263						26	29	28					22																	50436459		2182	4282	6464	IL17REL	SO:0001819	synonymous_variant	0			-	HGNC	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.814C>T	22.37:g.50436459G>A		Somatic	0	8	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25	A6NCN4|A6PVC1	Silent	SNP							NULL	p.L272	ENST00000389983.2	37	c.814	CCDS33679.1	22																																																																																			-	NULL		0.706	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL17REL	protein_coding	OTTHUMT00000317011.1	G	NM_001001694	-		50436459	-1	no_errors	ENST00000341280	ensembl	human	known	74_37	silent	SNP	0.997	A	A	50436459	G	A	50436459	2	1	112	1	0	0	0	0	0	0	0	1	7646	991	35	2		2	IL17REL	22	50436459	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6214539	50436459	868107	1039	8534											
SLC25A6	293	genome.wustl.edu	37	chrX	1505534	1505534	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcgtacaggaccagcacGaaggcgccccccatgccccg	11	18	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:1505534G>A	ENST00000381401.5	-	4	1572	c.858C>T	c.(856-858)ttC>ttT	p.F286F	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	286					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		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)			Clodronate(DB00720)	GGACCAGCACGAAGGCGCCCC	0.602																																																	0								ENSG00000169100						241	221	227					X																	1505534		2203	4296	6499	SLC25A6	SO:0001819	synonymous_variant	0			-	HGNC	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.858C>T	X.37:g.1505534G>A		Somatic	0	157	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	77	47.62	Q96C49	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.F286	ENST00000381401.5	37	c.858	CCDS14114.1	X																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.602	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	protein_coding	OTTHUMT00000055596.1	G	NM_001636	-		1505534	-1	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	SNP	0.996	A	A	1505534	G	A	1505534	2	1	112	1	0	0	0	0	0	0	0	1	14521	1049	37	1		1	SLC25A6	23	1505534	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09		1505534	153765026	1040	8535											
DHRSX	207063	genome.wustl.edu	37	chrX	2209608	2209608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcacaaactgccggatgGaagtcatggaagccaagtca	11	10	3	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:2209608G>A	ENST00000334651.5	-	4	375	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	108							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGCCGGATGGAAGTCATGGA	0.418																																																	0								ENSG00000169084						233	228	230					X																	2209608		2203	4296	6499	DHRSX	SO:0001583	missense	0			-	HGNC	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.323C>T	X.37:g.2209608G>A	ENSP00000334113:p.Ser108Phe	Somatic	0	288	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	138	145	48.76	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.S108F	ENST00000334651.5	37	c.323	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342121	0.24339	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.27104	1.69;1.69;1.69	2.19	2.19	0.27852	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000004	T	0.58637	0.2136	H	0.94503	3.545	0.30843	N	0.735404	D	0.89917	1.0	D	0.91635	0.999	T	0.67488	-0.5658	10	0.87932	D	0	.	11.3818	0.49761	0.0:0.0:1.0:0.0	.	108	Q8N5I4	DHRSX_HUMAN	F	108;85;41	ENSP00000334113:S108F;ENSP00000391778:S85F;ENSP00000402741:S41F	ENSP00000334113:S108F	S	-	2	0	DHRSX	2219608	1.000000	0.71417	0.301000	0.25044	0.039000	0.13416	4.324000	0.59228	0.886000	0.36113	0.272000	0.19324	TCC	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase		0.418	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	protein_coding	OTTHUMT00000055617.3	G	NM_145177	-		2209608	-1	no_errors	ENST00000334651	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2209608	G	A	2209608	3	1	112	1	0	0	0	0	1	0	0	0	4501	1174	41	2	685	2	DHRSX	23	2209608	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	704074	2209608	153060952	1041	8536											
MXRA5	25878	genome.wustl.edu	37	chrX	3241341	3241341	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtacttctgtgcccttaggGagatttttcccacggacttt	10	10	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:3241341G>A	ENST00000217939.6	-	5	2539	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	795						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)				TGCCCTTAGGGAGATTTTTCC	0.463																																																	0								ENSG00000101825						130	125	127					X																	3241341		2203	4300	6503	MXRA5	SO:0001819	synonymous_variant	0			-	HGNC	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.2385C>T	X.37:g.3241341G>A		Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	9	68.97	Q6P1M7|Q9Y3Y8	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L795	ENST00000217939.6	37	c.2385	CCDS14124.1	X																																																																																			-	NULL		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	G	NM_015419	-		3241341	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	SNP	0.779	A	A	3241341	G	A	3241341	2	1	112	1	0	0	0	0	0	0	0	1	10005	1161	41	2		2	MXRA5	23	3241341	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1031733	3241341	152029219	1042	8537											
NLGN4X	57502	genome.wustl.edu	37	chrX	5810947	5810947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgcaaaggctgcatccCcgtcagtgtgtttggaatca	12	9	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:5810947C>T	ENST00000381095.3	-	6	2989	c.2362G>A	c.(2362-2364)Ggg>Agg	p.G788R	NLGN4X_ENST00000275857.6_Missense_Mutation_p.G788R|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G788R|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G808R|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G788R	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	788					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTGCATCCCCGTCAGTGTG	0.517																																																	0								ENSG00000146938						281	233	249					X																	5810947		2203	4300	6503	NLGN4X	SO:0001583	missense	0			-	HGNC	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2362G>A	X.37:g.5810947C>T	ENSP00000370485:p.Gly788Arg	Somatic	0	60	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	15	76.56	Q6UX10|Q9ULG0	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G808R	ENST00000381095.3	37	c.2422	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070284	0.55539	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	3.82	3.82	0.43975	.	0.000000	0.32655	N	0.005803	T	0.49184	0.1542	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.76575	0.963;0.953;0.988	T	0.55617	-0.8113	10	0.87932	D	0	.	14.222	0.65833	0.0:1.0:0.0:0.0	.	845;788;808	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	R	788;808;788;788;788	ENSP00000370485:G788R;ENSP00000370483:G808R;ENSP00000275857:G788R;ENSP00000370482:G788R;ENSP00000439203:G788R	ENSP00000275857:G788R	G	-	1	0	NLGN4X	5820947	1.000000	0.71417	0.865000	0.33974	0.916000	0.54674	6.389000	0.73199	1.508000	0.48769	0.513000	0.50165	GGG	-	NULL		0.517	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	C	NM_020742	-		5810947	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5810947	C	T	5810947	3	4	112	1	0	0	0	0	1	0	0	0	10466	623	22	2	92	2	NLGN4X	23	5810947	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	2569606	5810947	149459613	1043	8538											
EGFL6	25975	genome.wustl.edu	37	chrX	13624542	13624542	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtcatctgtccctacaatCgaagatgtgtgaacacattt	7	9	2	2	rs199619027		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:13624542C>T	ENST00000361306.1	+	6	822	c.565C>T	c.(565-567)Cga>Tga	p.R189*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.R189*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	189	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TCCCTACAATCGAAGATGTGT	0.398																																																	0								ENSG00000198759						213	172	186					X																	13624542		2203	4300	6503	EGFL6	SO:0001587	stop_gained	0			-	HGNC	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.565C>T	X.37:g.13624542C>T	ENSP00000355126:p.Arg189*	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	12	69.23	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Nonsense_Mutation	SNP							pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R189*	ENST00000361306.1	37	c.565	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.054231	0.98032	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	5.14	3.33	0.38152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3316	0.60490	0.2854:0.7146:0.0:0.0	.	.	.	.	X	189	.	ENSP00000355126:R189X	R	+	1	2	EGFL6	13534463	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.735000	0.47377	0.379000	0.24794	0.532000	0.56150	CGA	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	protein_coding	OTTHUMT00000055800.1	C	NM_015507	-		13624542	1	no_errors	ENST00000380602	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	13624542	C	T	13624542	4	4	112	1	0	0	0	0	0	1	0	0	4965	876	31	1	587	1	EGFL6	23	13624542	Nonsense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	7813595	13624542	141646018	1044	8539											
GPR64	10149	genome.wustl.edu	37	chrX	19017310	19017310	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgaaccaggaccacAatgaacatgctgacgttcag	10	11	1	4			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:19017310A>T	ENST00000379869.3	-	26	2581	c.2418T>A	c.(2416-2418)atT>atA	p.I806I	GPR64_ENST00000356606.4_Silent_p.I792I|GPR64_ENST00000354791.3_Silent_p.I790I|GPR64_ENST00000340581.3_Silent_p.I687I|GPR64_ENST00000379876.1_Silent_p.I782I|GPR64_ENST00000379873.2_Silent_p.I806I|GPR64_ENST00000357991.3_Silent_p.I803I|GPR64_ENST00000360279.4_Silent_p.I784I|GPR64_ENST00000357544.3_Silent_p.I776I|GPR64_ENST00000379878.3_Silent_p.I790I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	806					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCAGGACCACAATGAACATGC	0.448																																																	0								ENSG00000173698						143	138	140					X																	19017310		2203	4300	6503	GPR64	SO:0001819	synonymous_variant	0			-	HGNC	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2418T>A	X.37:g.19017310A>T		Somatic	0	49	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	17	67.92	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I806	ENST00000379869.3	37	c.2418	CCDS43923.1	X																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.448	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	protein_coding	OTTHUMT00000055970.2	A		-		19017310	-1	no_errors	ENST00000379869	ensembl	human	known	74_37	silent	SNP	0.876	T	T	19017310	A	T	19017310	2	4	112	1	0	0	0	0	0	0	0	1	6707	126	5	5		5	GPR64	23	19017310	Silent	SNP	A	TCGA-DX-AB2E-01A-11D-A38Z-09	5392768	19017310	136253250	1045	8540											
CNKSR2	22866	genome.wustl.edu	37	chrX	21627715	21627715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaggggaggcagcagGggaaaacataggagaaaaaa	18	3	0	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:21627715G>A	ENST00000379510.3	+	20	2708	c.2672G>A	c.(2671-2673)gGg>gAg	p.G891E	CNKSR2_ENST00000425654.2_Missense_Mutation_p.G861E|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G891E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G842E	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	891					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						gaggCAGCAGGGGAAAACATA	0.473																																																	0								ENSG00000149970						27	19	21					X																	21627715		2195	4275	6470	CNKSR2	SO:0001583	missense	0			-	HGNC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2672G>A	X.37:g.21627715G>A	ENSP00000368824:p.Gly891Glu	Somatic	0	59	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	12	73.33	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP							pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.G891E	ENST00000379510.3	37	c.2672	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.941965	0.02322	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.16457	2.6;2.34;2.35;2.61	5.38	4.46	0.54185	.	0.129358	0.50627	D	0.000107	T	0.11580	0.0282	L	0.38175	1.15	0.27585	N	0.949453	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.08249	-1.0731	10	0.37606	T	0.19	-6.9948	4.3562	0.11179	0.0929:0.1529:0.5937:0.1606	.	861;842;483;891	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	E	861;842;891;891	ENSP00000397906:G861E;ENSP00000444633:G842E;ENSP00000279451:G891E;ENSP00000368824:G891E	ENSP00000279451:G891E	G	+	2	0	CNKSR2	21537636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.160000	0.31761	2.365000	0.80145	0.513000	0.50165	GGG	-	NULL		0.473	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	protein_coding	OTTHUMT00000056019.1	G	NM_014927	-		21627715	1	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	SNP	0.998	A	A	21627715	G	A	21627715	3	1	112	1	0	0	0	0	1	0	0	0	3609	1232	43	2	2750	2	CNKSR2	23	21627715	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	2610405	21627715	133642845	1046	8541											
FAM47C	442444	genome.wustl.edu	37	chrX	37027774	37027774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatctctgcctggagcctCccaagactcgcggatctcat	8	17	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:37027774C>T	ENST00000358047.3	+	1	1343	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	431										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGGAGCCTCCCAAGACTCG	0.607																																																	0								ENSG00000198173						61	60	60					X																	37027774		2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1291C>T	X.37:g.37027774C>T	ENSP00000367913:p.Pro431Ser	Somatic	0	102	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	25	68.35	Q6ZU46	Missense_Mutation	SNP							NULL	p.P431S	ENST00000358047.3	37	c.1291	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	14.24	2.477558	0.44044	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	1.4	1.4	0.22301	.	.	.	.	.	T	0.39963	0.1098	M	0.76574	2.34	0.18873	N	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.22941	-1.0202	9	0.21014	T	0.42	.	8.5665	0.33543	0.0:1.0:0.0:0.0	.	431	Q5HY64	FA47C_HUMAN	S	431	ENSP00000367913:P431S	ENSP00000367913:P431S	P	+	1	0	FAM47C	36937695	0.001000	0.12720	0.027000	0.17364	0.016000	0.09150	0.422000	0.21296	0.601000	0.29879	0.413000	0.27773	CCC	-	NULL		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	C	NM_001013736	-		37027774	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.435	T	T	37027774	C	T	37027774	3	4	112	1	0	0	0	0	1	0	0	0	5573	855	30	2	1293	2	FAM47C	23	37027774	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	15400059	37027774	118242786	1047	8542											
DDX3X	1654	genome.wustl.edu	37	chrX	41206162	41206162	+	Missense_Mutation	SNP	T	T	A													acataaatattactaaggatTtgttggatcttcttgttgaa							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:41206162T>A	ENST00000399959.2	+	15	2521	c.1666T>A	c.(1666-1668)Ttg>Atg	p.L556M	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.L540M|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	556	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TACTAAGGATTTGTTGGATCT	0.378										HNSCC(61;0.18)																																							0								ENSG00000215301						92	89	90					X																	41206162		2166	4269	6435	DDX3X	SO:0001583	missense	0			-	HGNC	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1666T>A	X.37:g.41206162T>A	ENSP00000382840:p.Leu556Met	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	18	68.97	A8K538|B4E3E8|O15536	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L556M	ENST00000399959.2	37	c.1666	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553253	0.65425	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.30981	1.51;1.52	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.998;0.998	D;P;D;D	0.91635	0.999;0.898;0.931;0.931	T	0.59500	-0.7443	10	0.56958	D	0.05	-6.7504	14.3593	0.66761	0.0:0.0:0.0:1.0	.	426;540;568;556	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	M	556;540	ENSP00000382840:L556M;ENSP00000392494:L540M	ENSP00000382840:L556M	L	+	1	2	DDX3X	41091106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.265000	0.43311	1.770000	0.52166	0.430000	0.28490	TTG	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	protein_coding	OTTHUMT00000056253.1	T	NM_024005	-		41206162	1	no_errors	ENST00000399959	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41206162	T	A	41206162	3	1	112	1	0	0	0	0	1	0	0	0	4360	1838	64	5	1724	5	DDX3X	23	41206162	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	4178388	41206162	114064398	1048	8543	151	2									
DDX3X	1654	genome.wustl.edu	37	chrX	41206163	41206163	+	Nonsense_Mutation	SNP	T	T	A													cataaatattactaaggattTgttggatcttcttgttgaag							TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:41206163T>A	ENST00000399959.2	+	15	2522	c.1667T>A	c.(1666-1668)tTg>tAg	p.L556*	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Nonsense_Mutation_p.L540*|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	556	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ACTAAGGATTTGTTGGATCTT	0.383										HNSCC(61;0.18)																																							0								ENSG00000215301						91	89	89					X																	41206163		2167	4269	6436	DDX3X	SO:0001587	stop_gained	0			-	HGNC	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1667T>A	X.37:g.41206163T>A	ENSP00000382840:p.Leu556*	Somatic	0	58	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	19	67.80	A8K538|B4E3E8|O15536	Nonsense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L556*	ENST00000399959.2	37	c.1667	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	T	46	12.490652	0.99672	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7504	14.3593	0.66761	0.0:0.0:0.0:1.0	.	.	.	.	X	556;540	.	ENSP00000382840:L556X	L	+	2	0	DDX3X	41091107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	1.770000	0.52166	0.430000	0.28490	TTG	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.383	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	protein_coding	OTTHUMT00000056253.1	T	NM_024005	-		41206163	1	no_errors	ENST00000399959	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	41206163	T	A	41206163	4	1	112	1	0	0	0	0	0	1	0	0	4360	1821	63	5	1725	5	DDX3X	23	41206163	Nonsense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	1	41206163	114064397	1049	8544	151	2									
ZNF81	347344	genome.wustl.edu	37	chrX	47705688	47705688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccagctaacgaggacgctCcccagccaggggaacatggc	13	14	0	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:47705688C>T	ENST00000376954.1	+	3	390	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	ZNF81_ENST00000483520.1_3'UTR|ZNF81_ENST00000338637.7_Missense_Mutation_p.P8S|ZNF81_ENST00000334937.4_Missense_Mutation_p.P8S			P51508	ZNF81_HUMAN	zinc finger protein 81	8					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CGAGGACGCTCCCCAGCCAGG	0.552																																																	0								ENSG00000197779						35	38	37					X																	47705688		2007	4150	6157	ZNF81	SO:0001583	missense	0			-	HGNC	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.22C>T	X.37:g.47705688C>T	ENSP00000366153:p.Pro8Ser	Somatic	0	22	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	2	89.47	Q6RX22|Q96QH6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P8S	ENST00000376954.1	37	c.22	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256100	0.22965	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000334937;ENST00000376950;ENST00000399918	T;T;T;T	0.05319	3.46;3.46;4.77;5.8	3.56	-1.6	0.08426	.	.	.	.	.	T	0.03564	0.0102	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48055	-0.9068	9	0.06494	T	0.89	.	3.9279	0.09272	0.0:0.2885:0.3547:0.3568	.	8	P51508	ZNF81_HUMAN	S	8	ENSP00000366153:P8S;ENSP00000341151:P8S;ENSP00000334641:P8S;ENSP00000366149:P8S	ENSP00000334641:P8S	P	+	1	0	ZNF81	47590632	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-0.281000	0.08456	-0.538000	0.06281	-0.374000	0.07098	CCC	-	NULL		0.552	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	protein_coding	OTTHUMT00000056455.2	C	NM_007137	-		47705688	1	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	SNP	0.000	T	T	47705688	C	T	47705688	3	4	112	1	0	0	0	0	1	0	0	0	18181	855	30	2	24	2	ZNF81	23	47705688	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	6499525	47705688	107564872	1050	8545											
ZNF630	57232	genome.wustl.edu	37	chrX	47918037	47918037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagactcagcacattcaggGgttttctccctaggatgagt	10	11	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:47918037G>A	ENST00000409324.3	-	5	2020	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.T584T|ZNF630_ENST00000276054.4_Silent_p.T474T	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	598					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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CACATTCAGGGGTTTTCTCCC	0.428																																																	0								ENSG00000221994						82	71	75					X																	47918037		2193	4289	6482	ZNF630	SO:0001819	synonymous_variant	0			-	HGNC	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1794C>T	X.37:g.47918037G>A		Somatic	0	15	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	F8WAG4|Q5H8Z5	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T598	ENST00000409324.3	37	c.1794	CCDS35237.2	X																																																																																			-	pfscan_Znf_C2H2		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	protein_coding	OTTHUMT00000327254.1	G	NM_001037735	-		47918037	-1	no_errors	ENST00000409324	ensembl	human	known	74_37	silent	SNP	0.011	A	A	47918037	G	A	47918037	2	1	112	1	0	0	0	0	0	0	0	1	18061	1219	43	2		2	ZNF630	23	47918037	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	212349	47918037	107352523	1051	8546											
SSX1	6756	genome.wustl.edu	37	chrX	48117237	48117237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggaaaaagatgaaataCtcggagaaaatcagctatgt	11	4	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:48117237C>T	ENST00000376919.3	+	3	262	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGATGAAATACTCGGAGAAAA	0.348			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)			Dom	yes		X	Xp11.23-p11.22	6756	"synovial sarcoma, X breakpoint 1"		M	0								ENSG00000126752						79	61	67					X																	48117237		2199	4299	6498	SSX1	SO:0001819	synonymous_variant	0			-	HGNC	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.126C>T	X.37:g.48117237C>T		Somatic	0	164	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	122	37	76.73	A3KN76|Q08AJ2|Q5JQ64	Silent	SNP							pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Y42	ENST00000376919.3	37	c.126	CCDS14290.1	X																																																																																			-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.348	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	protein_coding	OTTHUMT00000056485.1	C	NM_005635	-		48117237	1	no_errors	ENST00000376919	ensembl	human	known	74_37	silent	SNP	0.000	T	T	48117237	C	T	48117237	2	4	112	1	0	0	0	0	0	0	0	1	15210	576	20	2		2	SSX1	23	48117237	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	199200	48117237	107153323	1052	8547											
AKAP4	8852	genome.wustl.edu	37	chrX	49957156	49957156	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatgcatctggtgcccctGaaattgggcttatttgccga	11	9	1	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:49957156G>A	ENST00000376056.2	-	5	2331	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.F353F|AKAP4_ENST00000358526.2_Silent_p.F736F|AKAP4_ENST00000376064.3_Silent_p.F727F					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGGTGCCCCTGAAATTGGGCT	0.463																																																	0								ENSG00000147081						95	65	75					X																	49957156		2203	4300	6503	AKAP4	SO:0001819	synonymous_variant	0			-	HGNC	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2181C>T	X.37:g.49957156G>A		Somatic	0	22	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	2	84.62		Silent	SNP							pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.F736	ENST00000376056.2	37	c.2208	CCDS14330.1	X																																																																																			-	pfam_AKAP_110_C,smart_AKAP_110		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	protein_coding	OTTHUMT00000056552.1	G	NM_003886	-		49957156	-1	no_errors	ENST00000358526	ensembl	human	known	74_37	silent	SNP	0.000	A	A	49957156	G	A	49957156	2	1	112	1	0	0	0	0	0	0	0	1	453	1281	45	2		2	AKAP4	23	49957156	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1839919	49957156	105313404	1053	8548											
KDM5C	8242	genome.wustl.edu	37	chrX	53222217	53222217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtcagagtggagaaagGggccgaggggcctgaagtgg	22	5	1	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:53222217G>A	ENST00000375401.3	-	26	5147	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	KDM5C_ENST00000375383.3_Missense_Mutation_p.P1495S|KDM5C_ENST00000375379.3_Missense_Mutation_p.P1536S|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.P1538S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1539					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTGGAGAAAGGGGCCGAGGGG	0.657			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						30	29	29					X																	53222217		2202	4297	6499	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4615C>T	X.37:g.53222217G>A	ENSP00000364550:p.Pro1539Ser	Somatic	0	43	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	4	88.57	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.P1539S	ENST00000375401.3	37	c.4615	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	7.220	0.597247	0.13875	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.83250	-1.57;-1.57;-1.57;-1.7	3.24	2.36	0.29203	.	0.656632	0.12984	U	0.422986	T	0.60560	0.2278	N	0.03608	-0.345	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49312	-0.8953	10	0.21540	T	0.41	-0.8039	7.0884	0.25270	0.0:0.0:0.733:0.267	.	1538;1539	B0QZ44;P41229	.;KDM5C_HUMAN	S	1539;1538;1536;1495	ENSP00000364550:P1539S;ENSP00000385394:P1538S;ENSP00000364528:P1536S;ENSP00000364532:P1495S	ENSP00000364528:P1536S	P	-	1	0	KDM5C	53238942	0.843000	0.29541	0.933000	0.37362	0.584000	0.36387	0.259000	0.18405	0.768000	0.33290	0.407000	0.27541	CCT	-	NULL		0.657	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	G	NM_004187	-		53222217	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	0.861	A	A	53222217	G	A	53222217	3	1	112	1	0	0	0	0	1	0	0	0	8137	1232	43	2	169	2	KDM5C	23	53222217	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	3265061	53222217	102048343	1054	8549											
SLC16A2	6567	genome.wustl.edu	37	chrX	73744247	73744247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctttggttgtggctgttCcttcgcctttcagccatccc	8	14	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:73744247C>T	ENST00000587091.1	+	3	806	c.629C>T	c.(628-630)tCc>tTc	p.S210F	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S284F	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	210					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGTGGCTGTTCCTTCGCCTTT	0.557																																																	0								ENSG00000147100						130	107	115					X																	73744247		2203	4300	6503	SLC16A2	SO:0001583	missense	0			-	HGNC		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.629C>T	X.37:g.73744247C>T	ENSP00000465734:p.Ser210Phe	Somatic	0	66	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	14	66.67	Q7Z797	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S284F	ENST00000587091.1	37	c.851	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062708	0.76187	.	.	ENSG00000147100	ENST00000276033	T	0.61158	0.13	5.75	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);	0.157492	0.64402	D	0.000017	T	0.76198	0.3954	M	0.85373	2.75	0.51767	D	0.999938	P	0.48089	0.905	P	0.62885	0.908	T	0.80113	-0.1518	10	0.87932	D	0	.	13.2984	0.60311	0.0:0.9226:0.0:0.0774	.	210	P36021	MOT8_HUMAN	F	284	ENSP00000276033:S284F	ENSP00000276033:S284F	S	+	2	0	SLC16A2	73660972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.603000	0.61105	2.420000	0.82092	0.597000	0.82753	TCC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.557	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	protein_coding	OTTHUMT00000057266.3	C		-		73744247	1	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73744247	C	T	73744247	3	4	112	1	0	0	0	0	1	0	0	0	14416	855	30	2	861	2	SLC16A2	23	73744247	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	20522030	73744247	81526313	1055	8550											
P2RY10	27334	genome.wustl.edu	37	chrX	78216519	78216519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactgcctgtttgccatttCccatcctgagaagcacagac	9	13	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:78216519C>T	ENST00000171757.2	+	4	782	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.P168S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTTGCCATTTCCCATCCTGAG	0.502																																																	0								ENSG00000078589						118	98	105					X																	78216519		2203	4300	6503	P2RY10	SO:0001583	missense	0			-	HGNC	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.502C>T	X.37:g.78216519C>T	ENSP00000171757:p.Pro168Ser	Somatic	0	29	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	7	69.57	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P168S	ENST00000171757.2	37	c.502	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350995	0.24512	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36878	1.23;1.23	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.118215	0.56097	D	0.000022	T	0.51160	0.1658	L	0.47016	1.485	0.39493	D	0.968072	D	0.76494	0.999	D	0.75020	0.985	T	0.44221	-0.9342	10	0.25106	T	0.35	.	15.7747	0.78204	0.0:1.0:0.0:0.0	.	168	O00398	P2Y10_HUMAN	S	168	ENSP00000443138:P168S;ENSP00000171757:P168S	ENSP00000171757:P168S	P	+	1	0	P2RY10	78103175	0.675000	0.27558	0.995000	0.50966	0.252000	0.25951	0.820000	0.27323	2.290000	0.77057	0.422000	0.28245	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	protein_coding	OTTHUMT00000057323.1	C		-		78216519	1	no_errors	ENST00000171757	ensembl	human	known	74_37	missense	SNP	0.999	T	T	78216519	C	T	78216519	3	4	112	1	0	0	0	0	1	0	0	0	11349	855	30	2	504	2	P2RY10	23	78216519	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	4472272	78216519	77054041	1056	8551											
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177805	89177805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagaagcaagagcctaatCcatgattgatgatgttccaa	9	7	0	6			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:89177805C>T	ENST00000561129.2	+	1	851	c.721C>T	c.(721-723)Cca>Tca	p.P241S	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P241S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P241T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGAGCCTAATCCATGATTGAT	0.463																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000153779						42	45	44					X																	89177805		2182	4258	6440	TGIF2LX	SO:0001583	missense	0			-	HGNC	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.721C>T	X.37:g.89177805C>T	ENSP00000453704:p.Pro241Ser	Somatic	0	81	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	29	56.06	Q5JRM9|Q8TD48	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P241S	ENST00000561129.2	37	c.721	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889630	0.33348	.	.	ENSG00000153779	ENST00000283891	T	0.71461	-0.57	2.67	1.8	0.24995	.	.	.	.	.	T	0.80879	0.4708	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66340	-0.5948	8	.	.	.	-2.2682	4.8883	0.13713	0.0:0.8202:0.0:0.1798	.	241	Q8IUE1	TF2LX_HUMAN	S	241	ENSP00000355119:P241S	.	P	+	1	0	TGIF2LX	89064461	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.351000	0.07711	0.546000	0.28920	0.363000	0.22086	CCA	-	NULL		0.463	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	protein_coding	OTTHUMT00000417911.2	C	NM_138960	-		89177805	1	no_errors	ENST00000283891	ensembl	human	known	74_37	missense	SNP	0.001	T	T	89177805	C	T	89177805	3	4	112	1	0	0	0	0	1	0	0	0	15834	855	30	2	723	2	TGIF2LX	23	89177805	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	10961286	89177805	66092755	1057	8552											
DRP2	1821	genome.wustl.edu	37	chrX	100507640	100507640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacatctgccagacctgcTtcttgacaggcagggccagc	11	13	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:100507640T>C	ENST00000395209.3	+	17	2439	c.1912T>C	c.(1912-1914)Ttc>Ctc	p.F638L	DRP2_ENST00000538510.1_Missense_Mutation_p.F638L|DRP2_ENST00000402866.1_Missense_Mutation_p.F638L|DRP2_ENST00000541709.1_Missense_Mutation_p.F560L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	638					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCAGACCTGCTTCTTGACAGG	0.542																																																	0								ENSG00000102385						127	92	104					X																	100507640		2203	4300	6503	DRP2	SO:0001583	missense	0			-	HGNC	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1912T>C	X.37:g.100507640T>C	ENSP00000378635:p.Phe638Leu	Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP							pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.F638L	ENST00000395209.3	37	c.1912	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	T	35	5.514578	0.96402	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	6.08	6.08	0.98989	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.95850	3.73	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.98953	1.0795	10	0.87932	D	0	-15.4448	15.4992	0.75684	0.0:0.0:0.0:1.0	.	638	Q13474	DRP2_HUMAN	L	638;638;560;638	ENSP00000385038:F638L;ENSP00000378635:F638L;ENSP00000444752:F560L;ENSP00000441051:F638L	ENSP00000378635:F638L	F	+	1	0	DRP2	100394296	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	TTC	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_Znf_ZZ		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	protein_coding	OTTHUMT00000057522.3	T	NM_001939	-		100507640	1	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	SNP	1.000	C	C	100507640	T	C	100507640	3	2	112	1	0	0	0	0	1	0	0	0	4766	1609	56	5	1970	5	DRP2	23	100507640	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	11329835	100507640	54762920	1058	8553											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106083917	106083917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgctgttaatgacatgGctactaatcctgactattat	8	8	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:106083917G>T	ENST00000357242.5	+	10	1696	c.1522G>T	c.(1522-1524)Gct>Tct	p.A508S	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A502S|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.A508S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	508	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						TAATGACATGGCTACTAATCC	0.373																																																	0								ENSG00000133138						138	130	132					X																	106083917		2203	4299	6502	TBC1D8B	SO:0001583	missense	0			-	HGNC	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.1522G>T	X.37:g.106083917G>T	ENSP00000349781:p.Ala508Ser	Somatic	0	35	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.A508S	ENST00000357242.5	37	c.1522	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999394	0.74818	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.11063	2.81;2.81;2.81	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.125529	0.53938	D	0.000043	T	0.12518	0.0304	N	0.16862	0.45	0.52099	D	0.999941	P;P	0.48230	0.907;0.763	P;P	0.51297	0.665;0.61	T	0.29397	-1.0013	10	0.21014	T	0.42	-13.3754	16.5186	0.84307	0.0:0.0:1.0:0.0	.	508;508	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	S	508;508;502	ENSP00000349781:A508S;ENSP00000310675:A508S;ENSP00000276175:A502S	ENSP00000276175:A502S	A	+	1	0	TBC1D8B	105970573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.866000	0.63005	2.208000	0.71279	0.506000	0.49869	GCT	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	G	NM_017752	-		106083917	1	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	106083917	G	T	106083917	3	4	112	1	0	0	0	0	1	0	0	0	15633	1203	42	3	1560	3	TBC1D8B	23	106083917	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	5576277	106083917	49186643	1059	8554											
KLHL13	90293	genome.wustl.edu	37	chrX	117079473	117079473	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggaagactgcaaatgggatGagaggcccatttcgctgcct	13	9	0	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:117079473G>A	ENST00000262820.3	-	2	1073	c.164C>T	c.(163-165)tCa>tTa	p.S55L	KLHL13_ENST00000545703.1_Missense_Mutation_p.S13L|KLHL13_ENST00000469946.1_Missense_Mutation_p.S4L|KLHL13_ENST00000371876.1_Missense_Mutation_p.S4L|KLHL13_ENST00000371878.1_Missense_Mutation_p.S4L|KLHL13_ENST00000371882.1_Missense_Mutation_p.S4L|KLHL13_ENST00000540167.1_Missense_Mutation_p.S39L|KLHL13_ENST00000541812.1_Missense_Mutation_p.S39L|KLHL13_ENST00000539496.1_Missense_Mutation_p.S58L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	55					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATGGGATGAGAGGCCCAT	0.443																																																	0								ENSG00000003096						106	86	93					X																	117079473		2203	4300	6503	KLHL13	SO:0001583	missense	0			-	HGNC	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.164C>T	X.37:g.117079473G>A	ENSP00000262820:p.Ser55Leu	Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	10	72.97	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S58L	ENST00000262820.3	37	c.173	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913791	0.72983	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946;ENST00000453826	T;T;T;T;T;T;T;T;T;T	0.71461	-0.53;-0.53;-0.53;-0.53;-0.5;-0.5;-0.57;-0.57;-0.55;-0.53	5.09	5.09	0.68999	.	0.115617	0.64402	D	0.000011	T	0.53190	0.1781	N	0.08118	0	0.58432	D	0.999999	B;B;B;B	0.26809	0.069;0.16;0.16;0.084	B;B;B;B	0.24155	0.025;0.051;0.025;0.031	T	0.56492	-0.7970	10	0.59425	D	0.04	.	16.4339	0.83864	0.0:0.0:1.0:0.0	.	39;58;49;55	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	L	4;4;4;4;39;39;58;55;13;4;4	ENSP00000360949:S4L;ENSP00000360943:S4L;ENSP00000360945:S4L;ENSP00000412640:S4L;ENSP00000444450:S39L;ENSP00000441029:S39L;ENSP00000443191:S58L;ENSP00000262820:S55L;ENSP00000440707:S13L;ENSP00000419803:S4L	ENSP00000262820:S55L	S	-	2	0	KLHL13	116963501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.740000	0.91579	2.490000	0.84030	0.594000	0.82650	TCA	-	pirsf_Kelch-like_gigaxonin		0.443	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	protein_coding		G	NM_033495	-		117079473	-1	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117079473	G	A	117079473	3	1	112	1	0	0	0	0	1	0	0	0	8371	1294	45	2	1827	2	KLHL13	23	117079473	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	10995556	117079473	38191087	1060	8555											
ODZ1	10178	genome.wustl.edu	37	chrX	123526042	123526042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaaggtgaatatgtgaTgttcacttcattatatctgc	8	8	3	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:123526042T>C	ENST00000371130.3	-	27	5590	c.5527A>G	c.(5527-5529)Atc>Gtc	p.I1843V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.I1850V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1843					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAATATGTGATGTTCACTTCA	0.398																																																	0								ENSG00000009694						103	87	92					X																	123526042		2203	4299	6502	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5527A>G	X.37:g.123526042T>C	ENSP00000360171:p.Ile1843Val	Somatic	0	36	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	22	52.17	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.I1850V	ENST00000371130.3	37	c.5548	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	8.670	0.902547	0.17760	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.93	5.4	5.4	0.78164	.	0.109382	0.64402	D	0.000005	T	0.71609	0.3360	N	0.16862	0.45	0.51482	D	0.999928	B;B;B	0.21753	0.06;0.021;0.027	B;B;B	0.16722	0.012;0.008;0.016	T	0.66748	-0.5845	10	0.02654	T	1	.	14.5278	0.67900	0.0:0.0:0.0:1.0	.	1849;1850;1843	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	1843;1850	ENSP00000360171:I1843V;ENSP00000403954:I1850V	ENSP00000360171:I1843V	I	-	1	0	ODZ1	123353723	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.818000	0.55678	1.810000	0.52873	0.486000	0.48141	ATC	-	NULL		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	T	NM_014253	-		123526042	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	C	C	123526042	T	C	123526042	3	2	112	1	0	0	0	0	1	0	0	0	10836	1464	51	5	2670	5	ODZ1	23	123526042	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	6446569	123526042	31744518	1061	8556											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130215689	130215689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaagggcactgtgccccaGaatcatgccccctttgctgt	10	14	1	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:130215689G>A	ENST00000276211.5	+	2	395	c.50G>A	c.(49-51)aGa>aAa	p.R17K	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	17					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGTGCCCCAGAATCATGCCC	0.522																																																	0								ENSG00000147256						165	115	132					X																	130215689		2203	4300	6503	ARHGAP36	SO:0001583	missense	0			-	HGNC		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.50G>A	X.37:g.130215689G>A	ENSP00000276211:p.Arg17Lys	Somatic	0	51	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	15	69.39	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R17K	ENST00000276211.5	37	c.50	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252440	0.39797	.	.	ENSG00000147256	ENST00000276211	T	0.10960	2.82	4.16	0.101	0.14517	.	1.253250	0.05693	N	0.592531	T	0.05456	0.0144	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27331	-1.0077	10	0.87932	D	0	.	1.8337	0.03135	0.109:0.1736:0.3568:0.3606	.	17	Q6ZRI8	RHG36_HUMAN	K	17	ENSP00000276211:R17K	ENSP00000276211:R17K	R	+	2	0	ARHGAP36	130043370	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	0.218000	0.17622	-0.108000	0.12066	-0.351000	0.07748	AGA	-	NULL		0.522	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	protein_coding	OTTHUMT00000355073.1	G	NM_144967	-		130215689	1	no_errors	ENST00000276211	ensembl	human	known	74_37	missense	SNP	0.987	A	A	130215689	G	A	130215689	3	1	112	1	0	0	0	0	1	0	0	0	883	942	33	2	52	2	ARHGAP36	23	130215689	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	6689647	130215689	25054871	1062	8557											
HS6ST2	90161	genome.wustl.edu	37	chrX	131762776	131762776	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgaaactcagtgaggccGaagaacgccatgtgcttcag	12	11	2	3			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:131762776G>A	ENST00000370836.2	-	4	1708	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	HS6ST2_ENST00000406696.3_Silent_p.F157F|HS6ST2_ENST00000370833.2_Silent_p.F325F|HS6ST2_ENST00000521489.1_Silent_p.F471F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	431					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CAGTGAGGCCGAAGAACGCCA	0.458																																																	0								ENSG00000171004						88	85	86					X																	131762776		1955	4142	6097	HS6ST2	SO:0001819	synonymous_variant	0			-	HGNC	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1293C>T	X.37:g.131762776G>A		Somatic	0	29	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	14	60.00	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP							pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.F471	ENST00000370836.2	37	c.1413	CCDS48169.1	X																																																																																			-	pfam_Sulfotransferase		0.458	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	protein_coding	OTTHUMT00000058332.3	G	NM_147174	-		131762776	-1	no_errors	ENST00000521489	ensembl	human	known	74_37	silent	SNP	0.043	A	A	131762776	G	A	131762776	2	1	112	1	0	0	0	0	0	0	0	1	7373	1049	37	1		1	HS6ST2	23	131762776	Silent	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	1547087	131762776	23507784	1063	8558											
GPR112	139378	genome.wustl.edu	37	chrX	135430742	135430742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaaaaacaaaatggtttCctctgctttcactacagaaa	4	9	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:135430742C>T	ENST00000394143.1	+	6	5168	c.4877C>T	c.(4876-4878)tCc>tTc	p.S1626F	GPR112_ENST00000370652.1_Missense_Mutation_p.S1626F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1421F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1563F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1421F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1626					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)					AAAATGGTTTCCTCTGCTTTC	0.438																																																	0								ENSG00000156920						109	100	103					X																	135430742		2203	4300	6503	GPR112	SO:0001583	missense	0			-	HGNC	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.4877C>T	X.37:g.135430742C>T	ENSP00000377699:p.Ser1626Phe	Somatic	0	11	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1626F	ENST00000394143.1	37	c.4877	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	13.24	2.178669	0.38511	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.75	2.75	0.32379	.	.	.	.	.	T	0.50257	0.1605	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.83275	0.991;0.996;0.99	T	0.27938	-1.0059	9	0.87932	D	0	.	8.9833	0.35979	0.0:1.0:0.0:0.0	.	1563;1421;1626	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1626;1626;1421;1563;1421	ENSP00000377699:S1626F;ENSP00000359686:S1626F;ENSP00000416526:S1421F;ENSP00000287534:S1563F;ENSP00000377697:S1421F	ENSP00000287534:S1563F	S	+	2	0	GPR112	135258408	0.207000	0.23482	0.015000	0.15790	0.059000	0.15707	2.143000	0.42187	1.338000	0.45544	0.287000	0.19450	TCC	-	NULL		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	C		-		135430742	1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	SNP	0.025	T	T	135430742	C	T	135430742	3	4	112	1	0	0	0	0	1	0	0	0	6631	855	30	2	4887	2	GPR112	23	135430742	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3667966	135430742	19839818	1064	8559											
CXorf66	347487	genome.wustl.edu	37	chrX	139038581	139038581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttacataatttttctaggCtgcctttcttatgtgccttt	6	9	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:139038581C>T	ENST00000370540.1	-	3	583	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	187						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403																																																	0								ENSG00000203933						230	206	214					X																	139038581		2203	4300	6503	CXorf66	SO:0001583	missense	0			-	HGNC		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.560G>A	X.37:g.139038581C>T	ENSP00000359571:p.Ser187Asn	Somatic	0	47	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	8	73.33		Missense_Mutation	SNP							NULL	p.S187N	ENST00000370540.1	37	c.560	CCDS35411.1	X	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.841196	0.00573	.	.	ENSG00000203933	ENST00000370540	T	0.50548	0.74	3.84	-3.68	0.04463	.	1.564180	0.03827	N	0.268531	T	0.26085	0.0636	N	0.12746	0.255	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.10154	-1.0642	9	.	.	.	0.0589	6.6284	0.22843	0.0:0.2583:0.1504:0.5913	.	187	Q5JRM2	CX066_HUMAN	N	187	ENSP00000359571:S187N	.	S	-	2	0	CXorf66	138866247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.456000	0.06754	-1.252000	0.02491	-1.067000	0.02272	AGC	-	NULL		0.403	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	protein_coding	OTTHUMT00000058572.1	C	NM_001013403	-		139038581	-1	no_errors	ENST00000370540	ensembl	human	known	74_37	missense	SNP	0.000	T	T	139038581	C	T	139038581	3	4	112	1	0	0	0	0	1	0	0	0	4120	797	28	2	529	2	CXorf66	23	139038581	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	3607839	139038581	16231979	1065	8560											
SPANXD	64648	genome.wustl.edu	37	chrX	140785772	140785772	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcgaaccactagtatggtCgaggactcagatgtttttag	11	7	1	1	rs142384328		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140785772C>T	ENST00000370515.3	-	2	477	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTAGTATGGTCGAGGACTCAG	0.498																																																	0								ENSG00000196406	C		0,3831		0,0,1632,567	252	182	206		144		0	X	dbSNP_134	206	2,6699		0,2,2426,1845	no	coding-synonymous	SPANXD	NM_032417.2		0,2,4058,2412	TT,TC,CC,C		0.0298,0.0,0.019		48/98	140785772	2,10530	2199	4273	6472	SPANXD	SO:0001819	synonymous_variant	0			-	HGNC	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.144G>A	X.37:g.140785772C>T		Somatic	0	204	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	97	57	62.99	Q5JWI1	Silent	SNP							pfam_SPANX_prot	p.S48	ENST00000370515.3	37	c.144	CCDS14675.1	X																																																																																			-	pfam_SPANX_prot		0.498	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXD	protein_coding	OTTHUMT00000058598.1	C		rs142384328		140785772	-1	no_errors	ENST00000370515	ensembl	human	known	74_37	silent	SNP	0.000	T	T	140785772	C	T	140785772	2	4	112	1	0	0	0	0	0	0	0	1	14996	871	31	1		1	SPANXD	23	140785772	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1747191	140785772	14484788	1066	8561											
MAGEC3	139081	genome.wustl.edu	37	chrX	140967031	140967031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggagtcagccggaggGgaagttttctctgaggaggg	18	5	2	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140967031G>A	ENST00000298296.1	+	3	329	c.329G>A	c.(328-330)gGg>gAg	p.G110E	MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	110										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCGGAGGGGAAGTTTTCT	0.562																																																	0								ENSG00000165509						33	30	31					X																	140967031		2203	4300	6503	MAGEC3	SO:0001583	missense	0			-	HGNC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.329G>A	X.37:g.140967031G>A	ENSP00000298296:p.Gly110Glu	Somatic	0	54	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	12	72.09	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.G110E	ENST00000298296.1	37	c.329	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288755	0.23478	.	.	ENSG00000165509	ENST00000298296	T	0.08984	3.03	1.36	-1.83	0.07833	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38194	0.267	T	0.34800	-0.9814	9	0.72032	D	0.01	.	1.9706	0.03405	0.284:0.0:0.3265:0.3895	.	110	Q8TD91	MAGC3_HUMAN	E	110	ENSP00000298296:G110E	ENSP00000298296:G110E	G	+	2	0	MAGEC3	140794697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.340000	0.07821	-0.574000	0.05990	-0.593000	0.04111	GGG	-	NULL		0.562	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	protein_coding	OTTHUMT00000058606.1	G	NM_138702	-		140967031	1	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140967031	G	A	140967031	3	1	112	1	0	0	0	0	1	0	0	0	9184	1232	43	2	339	2	MAGEC3	23	140967031	Missense_Mutation	SNP	G	TCGA-DX-AB2E-01A-11D-A38Z-09	181259	140967031	14303529	1067	8562											
MAGEC1	9947	genome.wustl.edu	37	chrX	140993291	140993291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggaggactcccagtctcCtctccagattccccagagtt	11	14	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140993291C>T	ENST00000285879.4	+	4	387	c.101C>T	c.(100-102)cCt>cTt	p.P34L	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	34										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCAGTCTCCTCTCCAGATT	0.582										HNSCC(15;0.026)																																							0								ENSG00000155495						82	82	82					X																	140993291		2203	4300	6503	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.101C>T	X.37:g.140993291C>T	ENSP00000285879:p.Pro34Leu	Somatic	0	26	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	5	81.48	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.P34L	ENST00000285879.4	37	c.101	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	14.04	2.417848	0.42918	.	.	ENSG00000155495	ENST00000285879;ENST00000370511	T;T	0.18174	3.95;2.23	.	.	.	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.80722	D	1	P	0.48350	0.909	P	0.52909	0.713	T	0.11641	-1.0579	7	0.87932	D	0	.	.	.	.	.	34	O60732	MAGC1_HUMAN	L	34	ENSP00000285879:P34L;ENSP00000359542:P34L	ENSP00000285879:P34L	P	+	2	0	MAGEC1	140820957	0.005000	0.15991	0.151000	0.22473	0.152000	0.21847	0.156000	0.16382	0.147000	0.19030	0.149000	0.16113	CCT	-	NULL		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140993291	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.998	T	T	140993291	C	T	140993291	3	4	112	1	0	0	0	0	1	0	0	0	9182	681	24	2	107	2	MAGEC1	23	140993291	Missense_Mutation	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	26260	140993291	14277269	1068	8563											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994314	140994314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtctcctctccagaTtcctgggagcccctccttct	6	19	3	1			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140994314T>C	ENST00000285879.4	+	4	1410	c.1124T>C	c.(1123-1125)aTt>aCt	p.I375T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	375										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCCAGATTCCTGGGAGC	0.483										HNSCC(15;0.026)																																							0								ENSG00000155495						104	109	107					X																	140994314		2201	4289	6490	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1124T>C	X.37:g.140994314T>C	ENSP00000285879:p.Ile375Thr	Somatic	0	129	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	44	65.35	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.I375T	ENST00000285879.4	37	c.1124	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	t	0.228	-1.023356	0.02061	.	.	ENSG00000155495	ENST00000285879	T	0.02863	4.13	.	.	.	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.39706	0.307	T	0.47560	-0.9108	8	0.72032	D	0.01	.	4.5609	0.12160	0.0:5.0E-4:0.0:0.9995	.	375	O60732	MAGC1_HUMAN	T	375	ENSP00000285879:I375T	ENSP00000285879:I375T	I	+	2	0	MAGEC1	140821980	0.017000	0.18338	0.023000	0.16930	0.023000	0.10783	-0.678000	0.05209	0.127000	0.18452	0.126000	0.15802	ATT	-	NULL		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	T	NM_005462	-		140994314	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.004	C	C	140994314	T	C	140994314	3	2	112	1	0	0	0	0	1	0	0	0	9182	1493	52	5	1130	5	MAGEC1	23	140994314	Missense_Mutation	SNP	T	TCGA-DX-AB2E-01A-11D-A38Z-09	1023	140994314	14276246	1069	8564											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996004	140996004	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagagatgctgacgaatgtCatcagcaggtacacgggcta	13	9	2	2			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140996004C>T	ENST00000285879.4	+	4	3100	c.2814C>T	c.(2812-2814)gtC>gtT	p.V938V	MAGEC1_ENST00000406005.2_Silent_p.V5V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	938	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGAATGTCATCAGCAGGT	0.473										HNSCC(15;0.026)																																							0								ENSG00000155495						158	146	150					X																	140996004		2203	4300	6503	MAGEC1	SO:0001819	synonymous_variant	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2814C>T	X.37:g.140996004C>T		Somatic	0	37	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	11	73.17	A0PK03|O75451|Q8TCV4	Silent	SNP							pfam_MAGE,pfscan_MAGE	p.V938	ENST00000285879.4	37	c.2814	CCDS35417.1	X																																																																																			-	pfam_MAGE,pfscan_MAGE		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140996004	1	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	SNP	0.005	T	T	140996004	C	T	140996004	2	4	112	1	0	0	0	0	0	0	0	1	9182	813	29	2		2	MAGEC1	23	140996004	Silent	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09	1690	140996004	14274556	1070	8565											
NLGN4Y	22829	genome.wustl.edu	37	chrY	16952665	16952665	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcacaaaacagggccCgaggacacaactgtcctcat	8	15	2	0			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrY:16952665C>T	ENST00000476359.1	+	0	2519							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						AAACAGGGCCCGAGGACACAA	0.532																																																	0								ENSG00000165246																																			NLGN4Y	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2516C>T	Y.37:g.16952665C>T		Somatic	0	31	0		0.786041696312875				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Silent	SNP							pfam_CarbesteraseB,prints_Neuroligin	p.P715	ENST00000476359.1	37	c.2145		Y																																																																																			-	NULL		0.532	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	protein_coding	OTTHUMT00000089064.2	C	NM_014893	-		16952665	1	no_errors	ENST00000382868	ensembl	human	known	74_37	silent	SNP	0.737	T	T	16952665	C	T	16952665	1	4	112	0	1	0	0	0	0	0	0	0	10467	639	23	1		1	NLGN4Y	24	16952665	3'UTR	SNP	C	TCGA-DX-AB2E-01A-11D-A38Z-09		16952665	42420901	1071	8566											
EIF4G3	8672	genome.wustl.edu	37	chr1	21167469	21167469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccactcccactctcacaAaaacatgtagtaggccctgg	6	15	1	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:21167469A>G	ENST00000264211.8	-	24	3967	c.3773T>C	c.(3772-3774)tTt>tCt	p.F1258S	EIF4G3_ENST00000537738.1_Missense_Mutation_p.F748S|EIF4G3_ENST00000536266.1_Missense_Mutation_p.F862S|RNU7-200P_ENST00000516105.1_RNA|EIF4G3_ENST00000602326.1_Missense_Mutation_p.F1264S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.F1264S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.F1258S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.F978S	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1258	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCACAAAAACATGTAG	0.478																																																	0								ENSG00000075151						101	95	97					1																	21167469		2203	4300	6503	EIF4G3	SO:0001583	missense	0			-	HGNC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3773T>C	1.37:g.21167469A>G	ENSP00000264211:p.Phe1258Ser	Somatic	0	47	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	54	37.21	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.F1264S	ENST00000264211.8	37	c.3791	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615493	0.87359	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.48	5.48	0.80851	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.83953	2.67	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	0.70223	-0.4931	10	0.87932	D	0	-11.9593	15.5579	0.76213	1.0:0.0:0.0:0.0	.	1453;978;862;1264;1258	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	S	1258;1454;1258;978;748;1264;862;24	ENSP00000264211:F1258S;ENSP00000383274:F1258S;ENSP00000364071:F978S;ENSP00000442010:F748S;ENSP00000364073:F1264S;ENSP00000444693:F862S	ENSP00000264211:F1258S	F	-	2	0	EIF4G3	21040056	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.923000	0.92808	2.083000	0.62718	0.260000	0.18958	TTT	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.478	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	A	NM_003760	-		21167469	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21167469	A	G	21167469	3	3	113	1	0	0	0	0	1	0	0	0	5040	14	1	5	1016	5	EIF4G3	1	21167469	Missense_Mutation	SNP	A	TCGA-DX-AB2F-01A-11D-A387-09		21167469	228083152	1	8567											
TOE1	114034	genome.wustl.edu	37	chr1	45808994	45808994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaccgagcaggaggtgGctgccgatgaaactaggaac	14	8	0	2			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:45808994G>T	ENST00000372090.5	+	8	1736	c.1153G>T	c.(1153-1155)Gct>Tct	p.A385S	MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372098.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.A305S|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	385						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCAGGAGGTGGCTGCCGATGA	0.532																																																	0								ENSG00000132773						88	94	92					1																	45808994		2203	4300	6503	TOE1	SO:0001583	missense	0			-	HGNC		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1153G>T	1.37:g.45808994G>T	ENSP00000361162:p.Ala385Ser	Somatic	0	44	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP							pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.A385S	ENST00000372090.5	37	c.1153	CCDS521.1	1	.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467205	0.04476	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.31510	1.49;1.52	5.66	1.73	0.24493	.	0.823699	0.11464	N	0.561422	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.27910	0.005;0.193	B;B	0.34536	0.007;0.185	T	0.35351	-0.9792	10	0.18276	T	0.48	0.1245	2.5324	0.04706	0.207:0.2434:0.4336:0.1159	.	305;385	B4DEM6;Q96GM8	.;TOE1_HUMAN	S	385;305	ENSP00000361162:A385S;ENSP00000438900:A305S	ENSP00000361162:A385S	A	+	1	0	TOE1	45581581	0.000000	0.05858	0.646000	0.29493	0.115000	0.19883	0.287000	0.18920	0.141000	0.18875	0.655000	0.94253	GCT	-	pfam_RNase_CAF1		0.532	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	protein_coding	OTTHUMT00000020517.1	G	NM_025077	-		45808994	1	no_errors	ENST00000372090	ensembl	human	known	74_37	missense	SNP	0.017	T	T	45808994	G	T	45808994	3	4	113	1	0	0	0	0	1	0	0	0	16356	1203	42	3	1183	3	TOE1	1	45808994	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	24641525	45808994	203441627	2	8568											
LOR	4014	genome.wustl.edu	37	chr1	153233991	153233992	+	In_Frame_Ins	INS	-	-	CTCTGGCGGCGG													ggcggctctgtctgcggctaINSctctggcggcggctctggct					rs11272549|rs547333583|rs561634896	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:153233991_153233992insCTCTGGCGGCGG	ENST00000368742.3	+	2	623_624	c.566_567insCTCTGGCGGCGG	c.(565-570)tactct>taCTCTGGCGGCGGctct	p.194_195insGGGS		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	194					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggcg	0.743														3247	0.648363	0.6664	0.7954	5008	,	,		5032	0.4563		0.7147	False		,,,				2504	0.6493																0								ENSG00000203782			178,190		86,6,92						-7.1	0		dbSNP_120	1	749,435		350,49,193	no	coding	LOR	NM_000427.2		436,55,285	A1A1,A1R,RR		36.7399,48.3696,40.2706				927,625				LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.567_578dupCTCTGGCGGCGG	1.37:g.153233991_153233992insCTCTGGCGGCGG	ENSP00000357731:p.Gly191_Ser194dup	Somatic					0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T869|Q5XKF8	In_Frame_Ins	INS							NULL	p.193in_frame_insGSGG	ENST00000368742.3	37	c.566_567	CCDS30870.1	1																																																																																			-	NULL		0.743	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233992	1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.014:0.200	CTCTGGCGGCGG	CTCTGGCGGCGG	153233992	-	CTCTGGCGGCGG	153233991	7	5	113	1	0	1	1	0	0	0	0	0	8899	391	14	0	568	0	LOR	1	153233991	In_Frame_Ins	INS	-	TCGA-DX-AB2F-01A-11D-A387-09	107424997	153233991	96016630	3	8569											
FMNL2	114793	genome.wustl.edu	37	chr2	153475423	153475423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatggtcaaagaaaaagaaGaagcaattcaaagacagtct	8	5	3	4			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475423G>A	ENST00000288670.9	+	14	1745	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	460	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAAAAGAAGAAGCAATTCA	0.363																																																	0								ENSG00000157827						47	45	46					2																	153475423		1845	4077	5922	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1378G>A	2.37:g.153475423G>A	ENSP00000288670:p.Glu460Lys	Somatic	0	50	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	58	17.14	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E460K	ENST00000288670.9	37	c.1378	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574492	0.86542	.	.	ENSG00000157827	ENST00000288670	T	0.36699	1.24	5.63	5.63	0.86233	.	0.092494	0.85682	D	0.000000	T	0.43634	0.1256	L	0.41961	1.31	0.80722	D	1	D	0.56968	0.978	P	0.50659	0.647	T	0.08126	-1.0737	10	0.27785	T	0.31	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	460	Q96PY5-3	.	K	460	ENSP00000288670:E460K	ENSP00000288670:E460K	E	+	1	0	FMNL2	153183669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.641000	0.89580	0.650000	0.86243	GAA	-	pfam_FH3_dom		0.363	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475423	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153475423	G	A	153475423	3	1	113	1	0	0	0	0	1	0	0	0	5954	943	33	2	1432	2	FMNL2	2	153475423	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		153475423	89723950	4	8570			1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475465	153475465	+	Missense_Mutation	SNP	G	G	A													ccctggaaaaaaagattcatGagctagagaaacaagggacc							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475465G>A	ENST00000288670.9	+	14	1787	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	474					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAAGATTCATGAGCTAGAGAA	0.403																																																	0								ENSG00000157827						70	68	68					2																	153475465		1854	4089	5943	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1420G>A	2.37:g.153475465G>A	ENSP00000288670:p.Glu474Lys	Somatic	0	50	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E474K	ENST00000288670.9	37	c.1420	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.059527	0.93846	.	.	ENSG00000157827	ENST00000288670	T	0.44881	0.91	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.67051	-0.5768	10	0.40728	T	0.16	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	474	Q96PY5-3	.	K	474	ENSP00000288670:E474K	ENSP00000288670:E474K	E	+	1	0	FMNL2	153183711	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	9.550000	0.98110	2.641000	0.89580	0.650000	0.86243	GAG	-	pfam_FH3_dom		0.403	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475465	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153475465	G	A	153475465	3	1	113	1	0	0	0	0	1	0	0	0	5954	1291	45	2	1474	2	FMNL2	2	153475465	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	42	153475465	89723908	5	8571	152	2	1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475473	153475473	+	Silent	SNP	G	G	A													aaaaagattcatgagctagaGaaacaagggaccattaaaat							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475473G>A	ENST00000288670.9	+	14	1795	c.1428G>A	c.(1426-1428)gaG>gaA	p.E476E	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	476					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ATGAGCTAGAGAAACAAGGGA	0.408																																																	0								ENSG00000157827						75	73	74					2																	153475473		1865	4097	5962	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1428G>A	2.37:g.153475473G>A		Somatic	0	48	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	66	15.38	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E476	ENST00000288670.9	37	c.1428	CCDS46429.1	2																																																																																			-	NULL		0.408	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475473	1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	1.000	A	A	153475473	G	A	153475473	2	1	113	1	0	0	0	0	0	0	0	1	5954	933	33	2		2	FMNL2	2	153475473	Silent	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	8	153475473	89723900	6	8572	152	2	1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475500	153475500	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaccattaaaattcagaaGaaaggggatggggatatcgc	14	5	1	2			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475500G>A	ENST00000288670.9	+	14	1822	c.1455G>A	c.(1453-1455)aaG>aaA	p.K485K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	485					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAATTCAGAAGAAAGGGGATG	0.443																																																	0								ENSG00000157827						79	78	78					2																	153475500		1886	4101	5987	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1455G>A	2.37:g.153475500G>A		Somatic	0	40	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	69	17.86	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.K485	ENST00000288670.9	37	c.1455	CCDS46429.1	2																																																																																			-	NULL		0.443	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475500	1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	1.000	A	A	153475500	G	A	153475500	2	1	113	1	0	0	0	0	0	0	0	1	5954	933	33	2		2	FMNL2	2	153475500	Silent	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	27	153475500	89723873	7	8573			1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475531	153475531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatatcgccatactgccaGttgtggcttctggcacattg	12	10	1	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475531G>A	ENST00000288670.9	+	14	1853	c.1486G>A	c.(1486-1488)Gtt>Att	p.V496I	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	496					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATACTGCCAGTTGTGGCTTC	0.512																																																	0								ENSG00000157827						72	74	74					2																	153475531		1924	4129	6053	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1486G>A	2.37:g.153475531G>A	ENSP00000288670:p.Val496Ile	Somatic	0	39	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	76	14.61	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.V496I	ENST00000288670.9	37	c.1486	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777129	0.70107	.	.	ENSG00000157827	ENST00000288670	D	0.90133	-2.62	5.57	5.57	0.84162	.	0.415706	0.29692	N	0.011445	T	0.80959	0.4724	N	0.08118	0	0.80722	D	1	B	0.22683	0.073	B	0.21917	0.037	T	0.76719	-0.2856	10	0.36615	T	0.2	.	12.8339	0.57761	0.0745:0.0:0.9255:0.0	.	496	Q96PY5-3	.	I	496	ENSP00000288670:V496I	ENSP00000288670:V496I	V	+	1	0	FMNL2	153183777	1.000000	0.71417	0.293000	0.24932	0.974000	0.67602	5.805000	0.69143	2.612000	0.88384	0.650000	0.86243	GTT	-	NULL		0.512	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475531	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.896	A	A	153475531	G	A	153475531	3	1	113	1	0	0	0	0	1	0	0	0	5954	1029	36	2	1540	2	FMNL2	2	153475531	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	31	153475531	89723842	8	8574			1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475564	153475564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacattgtccatggggtcaGaagtggtagcaggtaactct	13	8	2	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475564G>A	ENST00000288670.9	+	14	1886	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	507					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATGGGGTCAGAAGTGGTAGC	0.552																																																	0								ENSG00000157827						64	68	67					2																	153475564		1948	4143	6091	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1519G>A	2.37:g.153475564G>A	ENSP00000288670:p.Glu507Lys	Somatic	0	28	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	78	14.29	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E507K	ENST00000288670.9	37	c.1519	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425964	0.43020	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	D	0.90004	-2.6	5.57	5.57	0.84162	.	0.371852	0.32608	N	0.005862	T	0.80919	0.4716	N	0.19112	0.55	0.53005	D	0.999964	B	0.18310	0.027	B	0.16289	0.015	T	0.75766	-0.3202	10	0.06236	T	0.91	.	19.5452	0.95291	0.0:0.0:1.0:0.0	.	507	Q96PY5-3	.	K	507;4	ENSP00000288670:E507K	ENSP00000288670:E507K	E	+	1	0	FMNL2	153183810	1.000000	0.71417	0.045000	0.18777	0.048000	0.14542	9.114000	0.94329	2.612000	0.88384	0.650000	0.86243	GAA	-	prints_Wilms_tumour		0.552	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475564	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.085	A	A	153475564	G	A	153475564	3	1	113	1	0	0	0	0	1	0	0	0	5954	943	33	2	1573	2	FMNL2	2	153475564	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	33	153475564	89723809	9	8575			1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475589	153475589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtagcaggtaactctgtggGacccacaatgggggccgctt	15	10	1	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475589G>A	ENST00000288670.9	+	14	1911	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	515					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AACTCTGTGGGACCCACAATG	0.557																																																	0								ENSG00000157827						58	61	60					2																	153475589		1953	4138	6091	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1544G>A	2.37:g.153475589G>A	ENSP00000288670:p.Gly515Glu	Somatic	0	32	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	107	13.71	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.G515E	ENST00000288670.9	37	c.1544	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446730	0.63178	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.20738	2.05	5.34	5.34	0.76211	.	0.530504	0.18732	N	0.132716	T	0.16981	0.0408	N	0.19112	0.55	0.80722	D	1	D	0.53619	0.961	P	0.48189	0.57	T	0.01432	-1.1356	10	0.02654	T	1	.	15.6493	0.77078	0.0:0.1469:0.8531:0.0	.	515	Q96PY5-3	.	E	515;12	ENSP00000288670:G515E	ENSP00000288670:G515E	G	+	2	0	FMNL2	153183835	1.000000	0.71417	0.834000	0.33040	0.128000	0.20619	5.793000	0.69060	2.497000	0.84241	0.650000	0.86243	GGA	-	prints_Wilms_tumour		0.557	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475589	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.991	A	A	153475589	G	A	153475589	3	1	113	1	0	0	0	0	1	0	0	0	5954	1174	41	2	1598	2	FMNL2	2	153475589	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	25	153475589	89723784	10	8576			1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475615	153475615	+	Missense_Mutation	SNP	G	G	A													caatgggggccgcttcctcaGgacccttgccccctcctcca							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475615G>A	ENST00000288670.9	+	14	1937	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	524					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CGCTTCCTCAGGACCCTTGCC	0.552																																																	0								ENSG00000157827						48	52	51					2																	153475615		1963	4142	6105	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1570G>A	2.37:g.153475615G>A	ENSP00000288670:p.Gly524Arg	Somatic	0	31	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	119	15.00	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.G524R	ENST00000288670.9	37	c.1570	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482125	0.26598	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.41758	0.99	5.57	4.68	0.58851	.	0.878476	0.10412	N	0.677833	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.16603	0.018	B	0.15870	0.014	T	0.04796	-1.0926	10	0.13470	T	0.59	.	13.845	0.63461	0.0731:0.0:0.9269:0.0	.	524	Q96PY5-3	.	R	524;21	ENSP00000288670:G524R	ENSP00000288670:G524R	G	+	1	0	FMNL2	153183861	0.950000	0.32346	0.156000	0.22583	0.036000	0.12997	3.749000	0.55150	2.612000	0.88384	0.650000	0.86243	GGA	-	NULL		0.552	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475615	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.686	A	A	153475615	G	A	153475615	3	1	113	1	0	0	0	0	1	0	0	0	5954	1001	35	2	1624	2	FMNL2	2	153475615	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	26	153475615	89723758	11	8577	153	2	1	67		9	7	201	N	G	5.917645e-25
FMNL2	114793	genome.wustl.edu	37	chr2	153475623	153475623	+	Silent	SNP	G	G	A													gccgcttcctcaggacccttGccccctcctccaccaccact							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475623G>A	ENST00000288670.9	+	14	1945	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	526	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAGGACCCTTGCCCCCTCCTC	0.542																																																	0								ENSG00000157827						45	48	47					2																	153475623		1965	4143	6108	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1578G>A	2.37:g.153475623G>A		Somatic	0	30	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	114	16.79	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.L526	ENST00000288670.9	37	c.1578	CCDS46429.1	2																																																																																			-	NULL		0.542	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475623	1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	0.733	A	A	153475623	G	A	153475623	2	1	113	1	0	0	0	0	0	0	0	1	5954	1310	46	2		2	FMNL2	2	153475623	Silent	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	8	153475623	89723750	12	8578	153	2	1	67		9	7	201	N	G	5.917645e-25
CD86	942	genome.wustl.edu	37	chr3	121822505	121822505	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaatgaggtatacttaGgcaaagagaaatttgacagt	10	4	1	4			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr3:121822505G>C	ENST00000330540.2	+	3	327	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.G65R|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	71	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GGTATACTTAGGCAAAGAGAA	0.433																																					GBM(67;1379 1389 36064 39806)												0								ENSG00000114013						142	142	142					3																	121822505		2203	4300	6503	CD86	SO:0001583	missense	0			-	HGNC		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.211G>C	3.37:g.121822505G>C	ENSP00000332049:p.Gly71Arg	Somatic	0	74	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G71R	ENST00000330540.2	37	c.211	CCDS3009.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.25|17.25	3.340913|3.340913	0.60963|0.60963	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000013|.	T|T	0.80502|0.80502	0.4635|0.4635	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82882|0.82882	-0.0237|-0.0237	10|5	0.87932|.	D|.	0|.	-21.6932|-21.6932	14.8575|14.8575	0.70351|0.70351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71|.	P42081|.	CD86_HUMAN|.	R|T	71;65;65|66	ENSP00000332049:G71R;ENSP00000419116:G65R;ENSP00000377248:G65R|.	ENSP00000332049:G71R|.	G|R	+|+	1|2	0|0	CD86|CD86	123305195|123305195	0.998000|0.998000	0.40836|0.40836	0.355000|0.355000	0.25773|0.25773	0.400000|0.400000	0.30750|0.30750	4.887000|4.887000	0.63156|0.63156	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGC|AGG	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.433	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	protein_coding	OTTHUMT00000355671.1	G	NM_006889	-		121822505	1	no_errors	ENST00000330540	ensembl	human	known	74_37	missense	SNP	0.603	C	C	121822505	G	C	121822505	3	2	113	1	0	0	0	0	1	0	0	0	3045	1000	35	4	221	4	CD86	3	121822505	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		121822505	76199925	13	8579											
ENPEP	2028	genome.wustl.edu	37	chr4	111427892	111427893	+	In_Frame_Ins	INS	-	-	ATT													tgaagaatactttgctatgaINSattattctcttcctaaatta							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr4:111427892_111427893insATT	ENST00000265162.5	+	4	1360_1361	c.1018_1019insATT	c.(1018-1020)aat>aATTat	p.341_342insY		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	341					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)		CTTTGCTATGAATTATTCTCTT	0.287																																																	0								ENSG00000138792																																			ENPEP	SO:0001652	inframe_insertion	0				HGNC	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.1022_1024dupATT	4.37:g.111427896_111427898dupATT	ENSP00000265162:p.Tyr341_Tyr341dup	Somatic	0	56	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q504U2	In_Frame_Ins	INS							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.342in_frame_insY	ENST00000265162.5	37	c.1018_1019	CCDS3691.1	4																																																																																			-	pfam_Peptidase_M1_N		0.287	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	protein_coding	OTTHUMT00000255747.2	-				111427893	1	no_errors	ENST00000265162	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.000	ATT	ATT	111427893	-	ATT	111427892	7	5	113	1	0	1	1	0	0	0	0	0	5130	246	9	0	1032	0	ENPEP	4	111427892	In_Frame_Ins	INS	-	TCGA-DX-AB2F-01A-11D-A387-09		111427892	79726384	14	8580											
FHDC1	85462	genome.wustl.edu	37	chr4	153875437	153875437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatggatcagagaccttgcGagaatttcttaagtttttgc	9	6	2	2	rs371895499		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr4:153875437G>A	ENST00000511601.1	+	4	817	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R210Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	210	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGACCTTGCGAGAATTTCTT	0.363																																																	0								ENSG00000137460	G	GLN/ARG	0,4406		0,0,2203	104	109	108		629	5	0.7	4		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	FHDC1	NM_033393.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	210/1144	153875437	1,13005	2203	4300	6503	FHDC1	SO:0001583	missense	0			-	HGNC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.629G>A	4.37:g.153875437G>A	ENSP00000427567:p.Arg210Gln	Somatic	0	28	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	3	88.89		Missense_Mutation	SNP							pfam_FH2_Formin,smart_FH2_Formin	p.R210Q	ENST00000511601.1	37	c.629	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412856	0.62511	0.0	1.16E-4	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.62788	0.0;0.0	5.86	5.02	0.67125	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.297635	0.33457	N	0.004898	T	0.58032	0.2094	L	0.39020	1.185	0.27235	N	0.959307	D	0.56746	0.977	P	0.50405	0.64	T	0.52749	-0.8534	10	0.32370	T	0.25	.	10.4163	0.44325	0.2039:0.0:0.7961:0.0	.	210	Q9C0D6	FHDC1_HUMAN	Q	210	ENSP00000427567:R210Q;ENSP00000260008:R210Q	ENSP00000260008:R210Q	R	+	2	0	FHDC1	154094887	0.996000	0.38824	0.709000	0.30452	0.682000	0.39822	1.194000	0.32174	1.499000	0.48617	0.650000	0.86243	CGA	-	pfam_FH2_Formin,smart_FH2_Formin		0.363	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	protein_coding	OTTHUMT00000364981.2	G	NM_033393	-		153875437	1	no_errors	ENST00000260008	ensembl	human	known	74_37	missense	SNP	0.960	A	A	153875437	G	A	153875437	3	1	113	1	0	0	0	0	1	0	0	0	5878	1058	37	1	639	1	FHDC1	4	153875437	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	42447545	153875437	37278839	15	8581											
UGT3A2	167127	genome.wustl.edu	37	chr5	36035888	36035888	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccatagagtccccagagtgAgccccagcagaaacacaaaa	9	13	0	4			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr5:36035888A>T	ENST00000282507.3	-	7	1585	c.1484T>A	c.(1483-1485)cTc>cAc	p.L495H	UGT3A2_ENST00000545528.1_Missense_Mutation_p.L193H|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L461H	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	495					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCCAGAGTGAGCCCCAGCAG	0.597																																																	0								ENSG00000168671						67	59	62					5																	36035888		2203	4300	6503	UGT3A2	SO:0001583	missense	0			-	HGNC		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1484T>A	5.37:g.36035888A>T	ENSP00000282507:p.Leu495His	Somatic	0	17	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L495H	ENST00000282507.3	37	c.1484	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	A	9.320	1.057771	0.19907	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.60797	0.16;0.16;0.16	2.74	2.74	0.32292	.	1.439330	0.05584	U	0.573498	T	0.71643	0.3364	M	0.75264	2.295	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.52990	-0.8501	10	0.87932	D	0	.	3.1377	0.06444	0.6096:0.2542:0.1362:0.0	.	461;495	E9PFK7;Q3SY77	.;UD3A2_HUMAN	H	495;461;193	ENSP00000282507:L495H;ENSP00000427404:L461H;ENSP00000445367:L193H	ENSP00000282507:L495H	L	-	2	0	UGT3A2	36071645	0.364000	0.24997	0.412000	0.26496	0.148000	0.21650	0.907000	0.28531	1.492000	0.48499	0.460000	0.39030	CTC	-	pfam_UDP_glucos_trans		0.597	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	protein_coding	OTTHUMT00000253771.2	A	NM_174914	-		36035888	-1	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	SNP	0.019	T	T	36035888	A	T	36035888	3	4	113	1	0	0	0	0	1	0	0	0	16971	304	11	5	91	5	UGT3A2	5	36035888	Missense_Mutation	SNP	A	TCGA-DX-AB2F-01A-11D-A387-09		36035888	144879372	16	8582											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214891	140214891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcacagtgataggacataTggattttgaagaaagtagag	11	3	1	4	rs565146954		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr5:140214891T>A	ENST00000525929.1	+	1	923	c.923T>A	c.(922-924)aTg>aAg	p.M308K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.M308K|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	308	Cadherin 3. {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)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGGACATATGGATTTTGAA	0.453																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						73	66	68					5																	140214891		2202	4280	6482	PCDHA7	SO:0001583	missense	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.923T>A	5.37:g.140214891T>A	ENSP00000436426:p.Met308Lys	Somatic	0	55	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	O75282	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.M308K	ENST00000525929.1	37	c.923	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	T	11.11	1.540994	0.27563	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.51817	0.69;0.69	4.04	4.04	0.47022	Cadherin (4);Cadherin-like (1);	0.358244	0.15682	U	0.249876	T	0.53997	0.1831	L	0.46157	1.445	0.09310	N	1	B;B	0.32010	0.159;0.351	B;P	0.45971	0.024;0.499	T	0.55749	-0.8092	10	0.87932	D	0	.	13.2918	0.60274	0.0:0.0:0.0:1.0	.	308;308	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	K	308	ENSP00000436426:M308K;ENSP00000367365:M308K	ENSP00000367365:M308K	M	+	2	0	PCDHA7	140195075	0.982000	0.34865	0.024000	0.17045	0.660000	0.38997	7.958000	0.87877	1.592000	0.50018	0.254000	0.18369	ATG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.453	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	T	NM_018910	-		140214891	1	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	SNP	0.079	A	A	140214891	T	A	140214891	3	1	113	1	0	0	0	0	1	0	0	0	11531	1464	51	5	925	5	PCDHA7	5	140214891	Missense_Mutation	SNP	T	TCGA-DX-AB2F-01A-11D-A387-09	104179003	140214891	40700369	17	8583											
POT1	25913	genome.wustl.edu	37	chr7	124493077	124493077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaagaccctgattcccCgaccgtaactggtacctcca	8	16	0	2			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr7:124493077C>T	ENST00000357628.3	-	10	1416	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	POT1_ENST00000393329.1_Missense_Mutation_p.R142Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	273	DNA binding.		R -> L (in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres). {ECO:0000269|PubMed:24686849}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTGATTCCCCGACCGTAACT	0.363																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0								ENSG00000128513						114	108	110					7																	124493077		2203	4300	6503	POT1	SO:0001583	missense	0			-	HGNC	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.818G>A	7.37:g.124493077C>T	ENSP00000350249:p.Arg273Gln	Somatic	0	108	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	67	15.19	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP							pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.R273Q	ENST00000357628.3	37	c.818	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.355751	0.95854	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.73469	-0.23;-0.75	6.07	6.07	0.98685	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79475	2.455	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87081	0.2166	10	0.66056	D	0.02	-12.026	18.1532	0.89682	0.0:1.0:0.0:0.0	.	273	Q9NUX5	POTE1_HUMAN	Q	273;142;273;273;273;272	ENSP00000350249:R273Q;ENSP00000377002:R142Q	ENSP00000265391:R272Q	R	-	2	0	POT1	124280313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.800000	0.62524	2.885000	0.99019	0.655000	0.94253	CGG	-	superfamily_NA-bd_OB-fold		0.363	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	protein_coding	OTTHUMT00000347861.1	C		-		124493077	-1	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124493077	C	T	124493077	3	4	113	1	0	0	0	0	1	0	0	0	12262	652	23	1	1126	1	POT1	7	124493077	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09		124493077	34645586	18	8584											
CHRM2	1129	genome.wustl.edu	37	chr7	136700328	136700328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtctggtacaaggaaGgatagtgaagccaaacaata	10	7	1	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr7:136700328G>A	ENST00000445907.2	+	3	1244	c.716G>A	c.(715-717)aGg>aAg	p.R239K	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.R239K|CHRM2_ENST00000401861.1_Missense_Mutation_p.R239K|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.R239K|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R239K|CHRM2_ENST00000397608.3_Missense_Mutation_p.R239K|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTACAAGGAAGGATAGTGAAG	0.502																																																	0								ENSG00000181072						52	50	50					7																	136700328		2203	4300	6503	CHRM2	SO:0001583	missense	0			-	HGNC		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.716G>A	7.37:g.136700328G>A	ENSP00000399745:p.Arg239Lys	Somatic	0	24	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	Q4VBK6|Q9P1X9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.R239K	ENST00000445907.2	37	c.716	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	0.972	-0.699735	0.03279	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.4	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.436404	0.27139	N	0.020744	T	0.31796	0.0808	N	0.16903	0.455	0.22591	N	0.998957	B	0.02656	0.0	B	0.04013	0.001	T	0.26916	-1.0089	10	0.02654	T	1	-3.3293	7.564	0.27868	0.4607:0.0:0.5393:0.0	.	239	P08172	ACM2_HUMAN	K	239	ENSP00000399745:R239K;ENSP00000415386:R239K;ENSP00000319984:R239K;ENSP00000380733:R239K;ENSP00000384937:R239K;ENSP00000384401:R239K	ENSP00000319984:R239K	R	+	2	0	CHRM2	136350868	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	1.017000	0.29989	0.278000	0.22164	0.655000	0.94253	AGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt		0.502	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	G		-		136700328	1	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	SNP	0.862	A	A	136700328	G	A	136700328	3	1	113	1	0	0	0	0	1	0	0	0	3379	1000	35	2	718	2	CHRM2	7	136700328	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	12207251	136700328	22438335	19	8585											
GRHL2	79977	genome.wustl.edu	37	chr8	102570802	102570802	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcagcttccccgagagctCtgccatcatcccggtgtcgg	10	16	3	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr8:102570802C>T	ENST00000251808.3	+	4	778	c.440C>T	c.(439-441)tCt>tTt	p.S147F	GRHL2_ENST00000395927.1_Missense_Mutation_p.S131F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	147					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CCCGAGAGCTCTGCCATCATC	0.527																																																	0								ENSG00000083307						119	115	117					8																	102570802		2203	4300	6503	GRHL2	SO:0001583	missense	0			-	HGNC	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.440C>T	8.37:g.102570802C>T	ENSP00000251808:p.Ser147Phe	Somatic	0	37	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	15	54.29	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP							pfam_CP2	p.S147F	ENST00000251808.3	37	c.440	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131912	0.37630	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12361	2.69;2.7	5.1	5.1	0.69264	.	0.491341	0.22165	N	0.063727	T	0.17662	0.0424	L	0.29908	0.895	0.41607	D	0.988883	B;P	0.35944	0.412;0.529	B;B	0.42738	0.188;0.396	T	0.04537	-1.0944	10	0.56958	D	0.05	-2.2035	18.5219	0.90956	0.0:1.0:0.0:0.0	.	147;147	B4DL28;Q6ISB3	.;GRHL2_HUMAN	F	147;131;147	ENSP00000251808:S147F;ENSP00000379260:S131F	ENSP00000251808:S147F	S	+	2	0	GRHL2	102639978	0.994000	0.37717	0.786000	0.31890	0.142000	0.21351	6.648000	0.74359	2.366000	0.80165	0.637000	0.83480	TCT	-	NULL		0.527	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	protein_coding	OTTHUMT00000313882.1	C	NM_024915	-		102570802	1	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	SNP	0.803	T	T	102570802	C	T	102570802	3	4	113	1	0	0	0	0	1	0	0	0	6766	913	32	2	454	2	GRHL2	8	102570802	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09		102570802	43793220	20	8586											
SEC16A	9919	genome.wustl.edu	37	chr9	139360765	139360765	+	Frame_Shift_Del	DEL	G	G	-													ggcggctggccaggctgtgtGcgctgtgcaggctccgtgcc							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr9:139360765delG	ENST00000371706.3	-	5	3578	c.3545delC	c.(3544-3546)gcafs	p.A1182fs	SEC16A_ENST00000431893.2_Frame_Shift_Del_p.A1182fs|SEC16A_ENST00000290037.6_Frame_Shift_Del_p.A1182fs|SEC16A_ENST00000313050.7_Frame_Shift_Del_p.A1360fs			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1182	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGGCTGTGTGCGCTGTGCAG	0.657																																																	0								ENSG00000148396						9	12	11					9																	139360765		2167	4243	6410	SEC16A	SO:0001589	frameshift_variant	0				HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3545delC	9.37:g.139360765delG	ENSP00000360771:p.Ala1182fs	Somatic	0	59	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	85	29.17	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Del	DEL							NULL	p.A1360fs	ENST00000371706.3	37	c.4079		9																																																																																			-	NULL		0.657	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055077.1	G	XM_088459			139360765	-1	no_errors	ENST00000313050	ensembl	human	known	74_37	frame_shift_del	DEL	0.006	-	-	139360765	G	-	139360765	7	5	113	1	0	1	0	1	0	0	0	0	13994	1319	46	0	3098	0	SEC16A	9	139360765	Frame_Shift_Del	DEL	G	TCGA-DX-AB2F-01A-11D-A387-09		139360765	1852666	21	8587											
DHX32	55760	genome.wustl.edu	37	chr10	127555678	127555678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctggaccacagtctgcttGtggacctgtgtgcatatcac	11	11	2	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr10:127555678G>T	ENST00000284690.3	-	2	847	c.357C>A	c.(355-357)caC>caA	p.H119Q	DHX32_ENST00000284688.6_Missense_Mutation_p.H119Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	119	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)				CAGTCTGCTTGTGGACCTGTG	0.517																																																	0								ENSG00000089876						119	98	105					10																	127555678		2203	4300	6503	DHX32	SO:0001583	missense	0			-	HGNC		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.357C>A	10.37:g.127555678G>T	ENSP00000284690:p.His119Gln	Somatic	0	35	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.H119Q	ENST00000284690.3	37	c.357	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173110	0.38413	.	.	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.12147	2.71;2.71	5.53	3.71	0.42584	DEAD-like helicase (1);	0.262122	0.43747	D	0.000536	T	0.11580	0.0282	L	0.44542	1.39	0.21355	N	0.999716	B	0.27351	0.176	B	0.19391	0.025	T	0.19844	-1.0293	10	0.87932	D	0	-24.0949	8.4152	0.32668	0.1423:0.1279:0.7298:0.0	.	119	Q7L7V1	DHX32_HUMAN	Q	119	ENSP00000284690:H119Q;ENSP00000284688:H119Q	ENSP00000284688:H119Q	H	-	3	2	DHX32	127545668	0.978000	0.34361	1.000000	0.80357	0.887000	0.51463	1.556000	0.36288	0.906000	0.36621	-0.136000	0.14681	CAC	-	superfamily_P-loop_NTPase,pfscan_Helicase_ATP-bd		0.517	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	protein_coding	OTTHUMT00000050945.2	G	NM_018180	-		127555678	-1	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	SNP	0.997	T	T	127555678	G	T	127555678	3	4	113	1	0	0	0	0	1	0	0	0	4507	1368	48	3	1914	3	DHX32	10	127555678	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		127555678	7979069	22	8588											
MMP26	56547	genome.wustl.edu	37	chr11	5013310	5013310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcacgaccctagaaccTtccagctcagtgccgatgat	9	13	2	2			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:5013310T>C	ENST00000380390.1	+	6	928	c.712T>C	c.(712-714)Ttc>Ctc	p.F238L	MMP26_ENST00000300762.1_Missense_Mutation_p.F238L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	238					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCCTAGAACCTTCCAGCTCAG	0.488																																																	0								ENSG00000167346						87	77	80					11																	5013310		2201	4298	6499	MMP26	SO:0001583	missense	0			-	HGNC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.712T>C	11.37:g.5013310T>C	ENSP00000369753:p.Phe238Leu	Somatic	0	35	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.F238L	ENST00000380390.1	37	c.712	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932776	0.34096	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.50277	0.75;0.75	3.79	3.79	0.43588	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.47455	D	0.000228	T	0.63486	0.2515	M	0.66439	2.03	0.36492	D	0.86846	D	0.76494	0.999	D	0.79784	0.993	T	0.72354	-0.4319	10	0.87932	D	0	-10.5885	10.5334	0.44990	0.0:0.0:0.0:1.0	.	238	Q9NRE1	MMP26_HUMAN	L	238	ENSP00000369753:F238L;ENSP00000300762:F238L	ENSP00000300762:F238L	F	+	1	0	MMP26	4969886	0.995000	0.38212	0.598000	0.28837	0.210000	0.24377	5.489000	0.66875	1.587000	0.49959	0.459000	0.35465	TTC	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	protein_coding	OTTHUMT00000142058.3	T	NM_021801	-		5013310	1	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	SNP	0.898	C	C	5013310	T	C	5013310	3	2	113	1	0	0	0	0	1	0	0	0	9665	1609	56	5	730	5	MMP26	11	5013310	Missense_Mutation	SNP	T	TCGA-DX-AB2F-01A-11D-A387-09		5013310	129993206	23	8589											
CABP2	51475	genome.wustl.edu	37	chr11	67288529	67288529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctcgatgagctccatctCggtgggcatgtagcccaggg	14	11	2	1	rs140767804	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:67288529C>T	ENST00000294288.4	-	4	415	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CABP2_ENST00000353903.5_Missense_Mutation_p.E59K	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	116	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						AGCTCCATCTCGGTGGGCATG	0.627																																																	0								ENSG00000167791	C	LYS/GLU	2,4398	4.2+/-10.8	0,2,2198	152	144	147		346	4.4	1	11	dbSNP_134	147	0,8590		0,0,4295	yes	missense	CABP2	NM_016366.2	56	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	116/221	67288529	2,12988	2200	4295	6495	CABP2	SO:0001583	missense	0			-	HGNC	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.346G>A	11.37:g.67288529C>T	ENSP00000294288:p.Glu116Lys	Somatic	0	35	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00		Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E116K	ENST00000294288.4	37	c.346	CCDS8170.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.436028	0.96168	4.55E-4	0.0	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.08370	3.1;3.1	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	L	0.61218	1.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.989;0.998	T	0.01053	-1.1467	10	0.72032	D	0.01	-29.9606	16.0747	0.80960	0.0:1.0:0.0:0.0	.	122;59;116	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	K	59;116	ENSP00000312037:E59K;ENSP00000294288:E116K	ENSP00000294288:E116K	E	-	1	0	CABP2	67045105	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	7.543000	0.82106	2.445000	0.82738	0.455000	0.32223	GAG	-	NULL		0.627	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	protein_coding	OTTHUMT00000397516.1	C		rs140767804		67288529	-1	no_errors	ENST00000294288	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67288529	C	T	67288529	3	4	113	1	0	0	0	0	1	0	0	0	2534	893	31	1	332	1	CABP2	11	67288529	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	62275219	67288529	67717987	24	8590											
TTC12	54970	genome.wustl.edu	37	chr11	113233190	113233190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaggaggccttgcgagCaggagtggtaaagaaaatga	16	4	0	3			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:113233190C>T	ENST00000529221.1	+	19	1787	c.1682C>T	c.(1681-1683)gCa>gTa	p.A561V	TTC12_ENST00000314756.3_Missense_Mutation_p.A561V|TTC12_ENST00000393020.1_Missense_Mutation_p.A561V|TTC12_ENST00000483239.2_Missense_Mutation_p.A567V	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	561										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCCTTGCGAGCAGGAGTGGTA	0.428																																																	0								ENSG00000149292						96	101	99					11																	113233190		2201	4296	6497	TTC12	SO:0001583	missense	0			-	HGNC	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1682C>T	11.37:g.113233190C>T	ENSP00000433757:p.Ala561Val	Somatic	0	54	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q8N5H9|Q9NWY3	Missense_Mutation	SNP							pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A561V	ENST00000529221.1	37	c.1682	CCDS8360.2	11	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948468	0.53186	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.05	3.0	0.34707	Armadillo-like helical (1);Armadillo-type fold (1);	0.648629	0.16212	N	0.224450	T	0.55673	0.1935	M	0.70595	2.14	0.26551	N	0.973917	D;D	0.59357	0.985;0.985	P;P	0.53006	0.715;0.715	T	0.50118	-0.8865	10	0.66056	D	0.02	-5.4822	9.0641	0.36453	0.1459:0.4564:0.3977:0.0	.	561;561	A8K8G6;Q9H892	.;TTC12_HUMAN	V	561;561;561;567	ENSP00000433757:A561V;ENSP00000315160:A561V;ENSP00000376743:A561V;ENSP00000419652:A567V	ENSP00000315160:A561V	A	+	2	0	TTC12	112738400	0.031000	0.19500	0.830000	0.32933	0.306000	0.27790	1.022000	0.30052	1.231000	0.43661	0.655000	0.94253	GCA	-	superfamily_ARM-type_fold		0.428	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	protein_coding	OTTHUMT00000286455.2	C	NM_017868	-		113233190	1	no_errors	ENST00000314756	ensembl	human	known	74_37	missense	SNP	0.932	T	T	113233190	C	T	113233190	3	4	113	1	0	0	0	0	1	0	0	0	16686	710	25	2	1752	2	TTC12	11	113233190	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	45944661	113233190	21773326	25	8591											
HTR3B	9177	genome.wustl.edu	37	chr11	113803102	113803102	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccatccaggtggtctctGcgtgcagtttagagacatat	11	10	1	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:113803102G>T	ENST00000260191.2	+	5	717	c.460G>T	c.(460-462)Gcg>Tcg	p.A154S	HTR3B_ENST00000537778.1_Missense_Mutation_p.A143S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	154					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GGTGGTCTCTGCGTGCAGTTT	0.433																																																	0								ENSG00000149305						182	157	166					11																	113803102		2201	4296	6497	HTR3B	SO:0001583	missense	0			-	HGNC	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.460G>T	11.37:g.113803102G>T	ENSP00000260191:p.Ala154Ser	Somatic	0	33	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B0YJ23|Q0VJC3	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.A154S	ENST00000260191.2	37	c.460	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776766	0.70107	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.77229	-1.08;-1.08	5.82	4.89	0.63831	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057703	0.64402	D	0.000002	T	0.76870	0.4048	L	0.35414	1.06	0.58432	D	0.99999	D;D	0.62365	0.99;0.991	D;P	0.64237	0.923;0.883	T	0.72928	-0.4143	10	0.02654	T	1	-9.3624	13.0412	0.58899	0.0816:0.0:0.9184:0.0	.	143;154	O95264-2;O95264	.;5HT3B_HUMAN	S	154;143	ENSP00000260191:A154S;ENSP00000443118:A143S	ENSP00000260191:A154S	A	+	1	0	HTR3B	113308312	1.000000	0.71417	0.687000	0.30102	0.859000	0.49053	4.577000	0.60922	1.402000	0.46780	0.563000	0.77884	GCG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.433	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	protein_coding	OTTHUMT00000398842.1	G	NM_006028	-		113803102	1	no_errors	ENST00000260191	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113803102	G	T	113803102	3	4	113	1	0	0	0	0	1	0	0	0	7447	1319	46	3	478	3	HTR3B	11	113803102	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	569912	113803102	21203414	26	8592											
OR6T1	219874	genome.wustl.edu	37	chr11	123813912	123813912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataggaaactgaggtcagagCcagtgagcccagtaacacca	11	10	1	3			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:123813912C>A	ENST00000321252.2	-	1	668	c.634G>T	c.(634-636)Gct>Tct	p.A212S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	212						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGGTCAGAGCCAGTGAGCCC	0.552																																																	0								ENSG00000181499						81	75	77					11																	123813912		2202	4299	6501	OR6T1	SO:0001583	missense	0			-	HGNC	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.634G>T	11.37:g.123813912C>A	ENSP00000325203:p.Ala212Ser	Somatic	0	35	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	5	82.76	Q6IFE7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A212S	ENST00000321252.2	37	c.634	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885376	0.02511	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19366	0.0465	N	0.16016	0.355	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.21930	-1.0231	9	0.59425	D	0.04	-1.0142	6.6296	0.22849	0.0:0.4763:0.1293:0.3945	.	212	Q8NGN1	OR6T1_HUMAN	S	212	ENSP00000325203:A212S	ENSP00000325203:A212S	A	-	1	0	OR6T1	123319122	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.650000	0.00858	-0.746000	0.04766	-1.119000	0.02030	GCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	protein_coding	OTTHUMT00000387264.1	C	NM_001005187	-		123813912	-1	no_errors	ENST00000321252	ensembl	human	known	74_37	missense	SNP	0.000	A	A	123813912	C	A	123813912	3	1	113	1	0	0	0	0	1	0	0	0	11212	739	26	3	340	3	OR6T1	11	123813912	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	10010810	123813912	11192604	27	8593											
RNF219	79596	genome.wustl.edu	37	chr13	79219033	79219033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggattttcaggagtgatggGgactctgcaagctggacact	14	7	2	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr13:79219033G>T	ENST00000282003.6	-	2	230	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	58							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGTGATGGGGACTCTGCAA	0.363																																																	0								ENSG00000152193						132	127	129					13																	79219033		2203	4300	6503	RNF219	SO:0001583	missense	0			-	HGNC	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.172C>A	13.37:g.79219033G>T	ENSP00000282003:p.Pro58Thr	Somatic	0	74	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP							pfscan_Znf_RING	p.P58T	ENST00000282003.6	37	c.172	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446416	0.63178	.	.	ENSG00000152193	ENST00000282003	T	0.18338	2.22	5.33	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);	0.118962	0.56097	D	0.000021	T	0.20981	0.0505	N	0.19112	0.55	0.43133	D	0.994872	D	0.65815	0.995	P	0.55112	0.769	T	0.02365	-1.1170	10	0.48119	T	0.1	-7.8383	15.4612	0.75359	0.0:0.1388:0.8612:0.0	.	58	Q5W0B1	RN219_HUMAN	T	58	ENSP00000282003:P58T	ENSP00000282003:P58T	P	-	1	0	RNF219	78117034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.793000	0.62474	2.489000	0.83994	0.655000	0.94253	CCC	-	NULL		0.363	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	protein_coding	OTTHUMT00000045363.1	G	NM_024546	-		79219033	-1	no_errors	ENST00000282003	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79219033	G	T	79219033	3	4	113	1	0	0	0	0	1	0	0	0	13490	1232	43	3	2028	3	RNF219	13	79219033	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		79219033	35950845	28	8594											
MYH6	4624	genome.wustl.edu	37	chr14	23853824	23853824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcggcctcgtccagccGgtgctgcaggtccttaatgg	13	14	0	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr14:23853824G>A	ENST00000356287.3	-	35	5421	c.5392C>T	c.(5392-5394)Cgg>Tgg	p.R1798W	MYH6_ENST00000405093.3_Missense_Mutation_p.R1798W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1798					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)			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)		TCGTCCAGCCGGTGCTGCAGG	0.632																																																	0								ENSG00000197616						76	76	76					14																	23853824		2203	4300	6503	MYH6	SO:0001583	missense	0			-	HGNC	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.5392C>T	14.37:g.23853824G>A	ENSP00000348634:p.Arg1798Trp	Somatic	0	33	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	58	37.63	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1798W	ENST00000356287.3	37	c.5392	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	20.2	3.951639	0.73787	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82711	-1.64;-1.64	4.82	3.92	0.45320	Myosin tail (1);	.	.	.	.	D	0.93769	0.8008	H	0.96996	3.92	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.95323	0.8422	9	0.87932	D	0	.	13.9069	0.63841	0.0:0.0:0.7244:0.2756	.	1798	P13533	MYH6_HUMAN	W	1798	ENSP00000386041:R1798W;ENSP00000348634:R1798W	ENSP00000348634:R1798W	R	-	1	2	MYH6	22923664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.974000	0.56852	1.148000	0.42385	0.561000	0.74099	CGG	-	pfam_Myosin_tail		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	protein_coding	OTTHUMT00000071796.3	G		-		23853824	-1	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23853824	G	A	23853824	3	1	113	1	0	0	0	0	1	0	0	0	10040	1115	39	1	443	1	MYH6	14	23853824	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		23853824	83495716	29	8595											
SIX4	51804	genome.wustl.edu	37	chr14	61180804	61180804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcctgtattaggaaccGtgtataccactgcactggga	11	10	1	0	rs536442725		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr14:61180804G>A	ENST00000216513.4	-	3	1726	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	556					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTAGGAACCGTGTATACCAC	0.458													G|||	1	0.000199681	0	0	5008	,	,		18667	0.001		0	False		,,,				2504	0																0								ENSG00000100625						45	44	44					14																	61180804		2203	4300	6503	SIX4	SO:0001583	missense	0			-	HGNC	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1667C>T	14.37:g.61180804G>A	ENSP00000216513:p.Thr556Met	Somatic	0	42	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q4QQH5|Q4V764	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T556M	ENST00000216513.4	37	c.1667	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517452	0.64634	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92299	-3.01;0.61	5.55	5.55	0.83447	.	0.323164	0.28515	N	0.015070	D	0.93220	0.7840	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94431	0.7649	10	0.87932	D	0	.	19.5144	0.95157	0.0:0.0:1.0:0.0	.	556	Q9UIU6	SIX4_HUMAN	M	556;229	ENSP00000216513:T556M;ENSP00000451537:T229M	ENSP00000216513:T556M	T	-	2	0	SIX4	60250557	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.778000	0.75043	2.618000	0.88619	0.655000	0.94253	ACG	-	NULL		0.458	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	G		-		61180804	-1	no_errors	ENST00000216513	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61180804	G	A	61180804	3	1	113	1	0	0	0	0	1	0	0	0	14357	1145	40	1	682	1	SIX4	14	61180804	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	37326980	61180804	46168736	30	8596											
IGDCC3	9543	genome.wustl.edu	37	chr15	65621811	65621811	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catatccacacgtttctcgtCtcggcccagctggccccgct	8	18	2	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr15:65621811C>A	ENST00000327987.4	-	13	2373	c.2122G>T	c.(2122-2124)Gac>Tac	p.D708Y	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	708					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTTCTCGTCTCGGCCCAGC	0.657																																																	0								ENSG00000174498						51	61	57					15																	65621811		2199	4293	6492	IGDCC3	SO:0001583	missense	0			-	HGNC	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2122G>T	15.37:g.65621811C>A	ENSP00000332773:p.Asp708Tyr	Somatic	0	60	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	50	38.27	O95215	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D708Y	ENST00000327987.4	37	c.2122	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098435	0.20552	.	.	ENSG00000174498	ENST00000327987	T	0.66638	-0.22	5.29	3.41	0.39046	.	0.491946	0.21418	N	0.074866	T	0.47619	0.1455	N	0.24115	0.695	0.09310	N	1	P	0.39624	0.681	B	0.37601	0.254	T	0.43180	-0.9407	10	0.59425	D	0.04	-4.9476	5.6062	0.17381	0.0:0.6802:0.0:0.3198	.	708	Q8IVU1	IGDC3_HUMAN	Y	708	ENSP00000332773:D708Y	ENSP00000332773:D708Y	D	-	1	0	IGDCC3	63408864	0.027000	0.19231	0.162000	0.22713	0.001000	0.01503	1.724000	0.38064	1.232000	0.43678	-0.137000	0.14449	GAC	-	NULL		0.657	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	protein_coding	OTTHUMT00000256826.1	C	NM_004884	-		65621811	-1	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	SNP	0.007	A	A	65621811	C	A	65621811	3	1	113	1	0	0	0	0	1	0	0	0	7570	913	32	3	330	3	IGDCC3	15	65621811	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09		65621811	36909581	31	8597											
ABCA3	21	genome.wustl.edu	37	chr16	2329036	2329036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgtggcgctcagggatGccccggagccgagcgtacat	15	13	1	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:2329036G>A	ENST00000301732.5	-	29	5155	c.4455C>T	c.(4453-4455)ggC>ggT	p.G1485G	ABCA3_ENST00000382381.3_Silent_p.G1427G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1485	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCTCAGGGATGCCCCGGAGCC	0.652																																																	0								ENSG00000167972						62	64	63					16																	2329036		2198	4300	6498	ABCA3	SO:0001819	synonymous_variant	0			-	HGNC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4455C>T	16.37:g.2329036G>A		Somatic	0	94	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	106	34.73	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1485	ENST00000301732.5	37	c.4455	CCDS10466.1	16																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.652	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	protein_coding	OTTHUMT00000250784.2	G	NM_001089	-		2329036	-1	no_errors	ENST00000301732	ensembl	human	known	74_37	silent	SNP	0.995	A	A	2329036	G	A	2329036	2	1	113	1	0	0	0	0	0	0	0	1	33	1306	46	2		2	ABCA3	16	2329036	Silent	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		2329036	88025717	32	8598											
USP7	7874	genome.wustl.edu	37	chr16	8988658	8988658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttctcaaactccttctCctggatgtccagcaggctct	6	16	3	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:8988658C>T	ENST00000344836.4	-	29	3292	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	USP7_ENST00000381886.4_Missense_Mutation_p.E1016K|USP7_ENST00000535863.1_Missense_Mutation_p.E933K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1032					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AACTCCTTCTCCTGGATGTCC	0.577																																																	0								ENSG00000187555						105	102	103					16																	8988658		2197	4300	6497	USP7	SO:0001583	missense	0			-	HGNC	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3094G>A	16.37:g.8988658C>T	ENSP00000343535:p.Glu1032Lys	Somatic	0	23	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.E1032K	ENST00000344836.4	37	c.3094	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892273	0.91889	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07216	3.21;3.22	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	M	0.61703	1.905	0.80722	D	1	P;P	0.40083	0.702;0.702	B;B	0.37015	0.239;0.239	T	0.03315	-1.1049	10	0.34782	T	0.22	.	19.3482	0.94373	0.0:1.0:0.0:0.0	.	1032;1016	Q93009;B7Z815	UBP7_HUMAN;.	K	1032;1040;933	ENSP00000343535:E1032K;ENSP00000443646:E933K	ENSP00000343535:E1032K	E	-	1	0	USP7	8896159	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.345000	0.79337	2.577000	0.86979	0.455000	0.32223	GAG	-	NULL		0.577	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	protein_coding	OTTHUMT00000434268.2	C		-		8988658	-1	no_errors	ENST00000344836	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8988658	C	T	8988658	3	4	113	1	0	0	0	0	1	0	0	0	17095	864	30	2	226	2	USP7	16	8988658	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	6659622	8988658	81366095	33	8599											
OTOA	146183	genome.wustl.edu	37	chr16	21702929	21702929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgttcaaagatctctaCgacaaaacctcggctcattc	7	12	3	1	rs139292090		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:21702929C>T	ENST00000286149.4	+	8	661	c.660C>T	c.(658-660)taC>taT	p.Y220Y	OTOA_ENST00000388958.3_Silent_p.Y220Y|OTOA_ENST00000388956.4_Silent_p.Y141Y			Q7RTW8	OTOAN_HUMAN	otoancorin	220					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)				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)		AAGATCTCTACGACAAAACCT	0.478													C|||	1	0.000199681	0	0	5008	,	,		20277	0		0.001	False		,,,				2504	0																0								ENSG00000155719	C	,	3,4395	6.2+/-15.9	0,3,2196	107	97	100		423,660	-10.5	0.1	16	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	OTOA	NM_001161683.1,NM_144672.3	,	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	,	141/1061,220/1140	21702929	5,12993	2199	4300	6499	OTOA	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.660C>T	16.37:g.21702929C>T		Somatic	0	54	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	22	51.11	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP							NULL	p.Y220	ENST00000286149.4	37	c.660		16																																																																																			-	NULL		0.478	OTOA-003	KNOWN	basic	protein_coding	OTOA	protein_coding	OTTHUMT00000430021.1	C		rs139292090		21702929	1	no_errors	ENST00000286149	ensembl	human	known	74_37	silent	SNP	0.567	T	T	21702929	C	T	21702929	2	4	113	1	0	0	0	0	0	0	0	1	11304	547	19	1		1	OTOA	16	21702929	Silent	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	12714271	21702929	68651824	34	8600											
ATP2C2	9914	genome.wustl.edu	37	chr16	84444193	84444193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgcttgtcgtggtcaCtgtcgccttcatccaggtga	13	11	2	1	rs371336541		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:84444193C>T	ENST00000262429.4	+	5	526	c.437C>T	c.(436-438)aCt>aTt	p.T146I	ATP2C2_ENST00000416219.2_Missense_Mutation_p.T146I|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	146					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCGTGGTCACTGTCGCCTTC	0.592													C|||	1	0.000199681	0	0	5008	,	,		16839	0.001		0	False		,,,				2504	0																0								ENSG00000064270	C	ILE/THR	0,4140		0,0,2070	108	106	107		437	4.6	0.9	16		107	1,8433		0,1,4216	no	missense	ATP2C2	NM_014861.2	89	0,1,6286	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	146/947	84444193	1,12573	2070	4217	6287	ATP2C2	SO:0001583	missense	0			-	HGNC	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.437C>T	16.37:g.84444193C>T	ENSP00000262429:p.Thr146Ile	Somatic	0	22	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.T146I	ENST00000262429.4	37	c.437	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820369	0.50633	0.0	1.19E-4	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.90620	-2.7;-2.7	4.57	4.57	0.56435	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.266885	0.31370	N	0.007763	D	0.91570	0.7337	L	0.46614	1.455	0.49213	D	0.999761	P;D;D	0.89917	0.931;1.0;1.0	P;D;D	0.91635	0.884;0.997;0.999	D	0.88041	0.2781	10	0.06625	T	0.88	.	12.8442	0.57821	0.0:1.0:0.0:0.0	.	146;163;146	E7ES94;O75185-2;O75185	.;.;AT2C2_HUMAN	I	146	ENSP00000397925:T146I;ENSP00000262429:T146I	ENSP00000262429:T146I	T	+	2	0	ATP2C2	83001694	0.999000	0.42202	0.916000	0.36221	0.256000	0.26092	5.277000	0.65586	2.090000	0.63153	0.585000	0.79938	ACT	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1		0.592	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	protein_coding	OTTHUMT00000433404.1	C	NM_014861	-		84444193	1	no_errors	ENST00000262429	ensembl	human	known	74_37	missense	SNP	0.993	T	T	84444193	C	T	84444193	3	4	113	1	0	0	0	0	1	0	0	0	1144	565	20	2	455	2	ATP2C2	16	84444193	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	62741264	84444193	5910560	35	8601											
NOS2	4843	genome.wustl.edu	37	chr17	26101441	26101441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttcatgaaggattctgCagccgagtggtggtccatga	13	8	2	2			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr17:26101441C>T	ENST00000313735.6	-	12	1551	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	440					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AAGGATTCTGCAGCCGAGTGG	0.562																																																	0								ENSG00000007171						96	92	93					17																	26101441		2203	4300	6503	NOS2	SO:0001583	missense	0			-	HGNC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1318G>A	17.37:g.26101441C>T	ENSP00000327251:p.Ala440Thr	Somatic	0	35	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A440T	ENST00000313735.6	37	c.1318	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	8.253	0.809511	0.16537	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22743	1.94	5.67	3.57	0.40892	Nitric oxide synthase, oxygenase domain (2);	0.304797	0.31461	N	0.007616	T	0.13030	0.0316	N	0.16903	0.455	0.25596	N	0.986649	B;B	0.31256	0.138;0.316	B;B	0.34093	0.033;0.175	T	0.22836	-1.0205	10	0.09338	T	0.73	.	14.2229	0.65839	0.4199:0.5801:0.0:0.0	.	440;440	F8WEM3;P35228	.;NOS2_HUMAN	T	440;401;440	ENSP00000327251:A440T	ENSP00000305638:A440T	A	-	1	0	NOS2	23125568	0.859000	0.29813	0.132000	0.22025	0.963000	0.63663	1.635000	0.37134	0.632000	0.30432	0.561000	0.74099	GCA	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	protein_coding	OTTHUMT00000255597.1	C	NM_000625	-		26101441	-1	no_errors	ENST00000313735	ensembl	human	known	74_37	missense	SNP	0.434	T	T	26101441	C	T	26101441	3	4	113	1	0	0	0	0	1	0	0	0	10545	710	25	2	2207	2	NOS2	17	26101441	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09		26101441	55093769	36	8602											
KIAA0355	9710	genome.wustl.edu	37	chr19	34819042	34819042	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgagtcggccgccgacaatCtgaaacttaagacggtagct	11	10	1	3			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr19:34819042C>G	ENST00000299505.6	+	6	1963	c.1090C>G	c.(1090-1092)Ctg>Gtg	p.L364V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	364										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGCCGACAATCTGAAACTTAA	0.507																																																	0								ENSG00000166398						52	54	53					19																	34819042		2203	4300	6503	KIAA0355	SO:0001583	missense	0			-	HGNC		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1090C>G	19.37:g.34819042C>G	ENSP00000299505:p.Leu364Val	Somatic	0	30	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	49	15.52	Q2M3W4	Missense_Mutation	SNP							NULL	p.L364V	ENST00000299505.6	37	c.1090	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268133	0.80469	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.60728	0.2291	N	0.14661	0.345	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.67952	-0.5537	9	0.87932	D	0	-33.3309	14.5447	0.68020	0.0:0.9296:0.0:0.0704	.	364	O15063	K0355_HUMAN	V	364;67	.	ENSP00000299505:L364V	L	+	1	2	KIAA0355	39510882	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.648000	0.61425	1.358000	0.45922	0.544000	0.68410	CTG	-	NULL		0.507	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	protein_coding	OTTHUMT00000451678.4	C	NM_014686	-		34819042	1	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	SNP	1.000	G	G	34819042	C	G	34819042	3	3	113	1	0	0	0	0	1	0	0	0	8172	912	32	4	1108	4	KIAA0355	19	34819042	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09		34819042	24309941	37	8603											
STRN4	29888	genome.wustl.edu	37	chr19	47225504	47225504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggctaggcctcacctgtcCgattgtccaggaagcggatg	15	11	1	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr19:47225504C>A	ENST00000263280.6	-	15	2049	c.2000G>T	c.(1999-2001)cGg>cTg	p.R667L	STRN4_ENST00000539396.1_Missense_Mutation_p.R548L|STRN4_ENST00000391910.3_Missense_Mutation_p.R674L|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	667						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTCACCTGTCCGATTGTCCAG	0.617																																																	0								ENSG00000090372						118	99	105					19																	47225504		2203	4300	6503	STRN4	SO:0001583	missense	0			-	HGNC	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2000G>T	19.37:g.47225504C>A	ENSP00000263280:p.Arg667Leu	Somatic	0	29	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.47	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R674L	ENST00000263280.6	37	c.2021	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	.	19.18	3.778157	0.70107	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	D;D;D	0.82081	-1.57;-1.57;-1.57	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.276636	0.35585	N	0.003103	T	0.81659	0.4869	L	0.36672	1.1	0.80722	D	1	P;D	0.54207	0.947;0.965	P;P	0.52856	0.711;0.468	T	0.80605	-0.1308	10	0.39692	T	0.17	-26.5831	11.486	0.50354	0.0:0.9164:0.0:0.0836	.	674;667	F8VYA6;Q9NRL3	.;STRN4_HUMAN	L	674;667;548	ENSP00000375777:R674L;ENSP00000263280:R667L;ENSP00000440901:R548L	ENSP00000263280:R667L	R	-	2	0	STRN4	51917344	0.993000	0.37304	1.000000	0.80357	0.992000	0.81027	2.332000	0.43903	2.539000	0.85634	0.561000	0.74099	CGG	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.617	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	protein_coding	OTTHUMT00000466607.2	C		-		47225504	-1	no_errors	ENST00000391910	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47225504	C	A	47225504	3	1	113	1	0	0	0	0	1	0	0	0	15338	652	23	3	273	3	STRN4	19	47225504	Missense_Mutation	SNP	C	TCGA-DX-AB2F-01A-11D-A387-09	12406462	47225504	11903479	38	8604											
ZIM2	23619	genome.wustl.edu	37	chr19	57301291	57301291	+	Frame_Shift_Del	DEL	T	T	-													atctctgtgttcctcttttcTgcagggacagagtcctgagc							TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr19:57301291delT	ENST00000391708.3	-	9	968	c.426delA	c.(424-426)gcafs	p.A142fs	ZIM2_ENST00000221722.5_Frame_Shift_Del_p.A142fs|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Frame_Shift_Del_p.A142fs|ZIM2_ENST00000593711.1_Frame_Shift_Del_p.A142fs|ZIM2_ENST00000599935.1_Frame_Shift_Del_p.A142fs|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	142					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCCTCTTTTCTGCAGGGACAG	0.498																																																	0								ENSG00000269699						74	62	66					19																	57301291		2203	4300	6503	ZIM2	SO:0001589	frameshift_variant	0				HGNC	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.426delA	19.37:g.57301291delT	ENSP00000375589:p.Ala142fs	Somatic	0	37	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	76	17.39	Q2M3K1	Frame_Shift_Del	DEL							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E143fs	ENST00000391708.3	37	c.426	CCDS33123.1	19																																																																																			-	NULL		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	protein_coding	OTTHUMT00000416094.2	T				57301291	-1	no_errors	ENST00000221722	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	57301291	T	-	57301291	7	5	113	1	0	1	0	1	0	0	0	0	17691	1567	55	0	1173	0	ZIM2	19	57301291	Frame_Shift_Del	DEL	T	TCGA-DX-AB2F-01A-11D-A387-09	10075787	57301291	1827692	39	8605											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19732162	19732162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaagctcagtttaatGgaaagtccttggtttacact	8	8	2	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr21:19732162G>A	ENST00000284885.3	-	8	825	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						TCAGTTTAATGGAAAGTCCTT	0.264																																																	0								ENSG00000154646						29	34	33					21																	19732162		2182	4260	6442	TMPRSS15	SO:0001819	synonymous_variant	0			-	HGNC		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.792C>T	21.37:g.19732162G>A		Somatic	1	141	0.7		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38	Q2NKL7	Silent	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.S264	ENST00000284885.3	37	c.792	CCDS13571.1	21																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.264	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	G	NM_002772	-		19732162	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	silent	SNP	0.954	A	A	19732162	G	A	19732162	2	1	113	1	0	0	0	0	0	0	0	1	16253	1335	47	2		2	TMPRSS15	21	19732162	Silent	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		19732162	28397733	40	8606											
FAM47C	442444	genome.wustl.edu	37	chrX	37026524	37026524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccggcccagttccccggGcatggactccacgccctggt	13	17	0	0			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:37026524G>T	ENST00000358047.3	+	1	93	c.41G>T	c.(40-42)gGc>gTc	p.G14V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	14										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTTCCCCGGGCATGGACTCC	0.657																																																	0								ENSG00000198173						22	21	21					X																	37026524		2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.41G>T	X.37:g.37026524G>T	ENSP00000367913:p.Gly14Val	Somatic	0	76	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	107	16.41	Q6ZU46	Missense_Mutation	SNP							NULL	p.G14V	ENST00000358047.3	37	c.41	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	11.16	1.558254	0.27827	.	.	ENSG00000198173	ENST00000358047	T	0.25250	1.81	0.462	0.462	0.16695	.	.	.	.	.	T	0.48223	0.1488	M	0.80183	2.485	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.23404	-1.0189	8	0.72032	D	0.01	.	.	.	.	.	14	Q5HY64	FA47C_HUMAN	V	14	ENSP00000367913:G14V	ENSP00000367913:G14V	G	+	2	0	FAM47C	36936445	0.166000	0.22962	0.042000	0.18584	0.123000	0.20343	0.766000	0.26560	0.475000	0.27415	0.287000	0.19450	GGC	-	NULL		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	G	NM_001013736	-		37026524	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.039	T	T	37026524	G	T	37026524	3	4	113	1	0	0	0	0	1	0	0	0	5573	1203	42	3	43	3	FAM47C	23	37026524	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09		37026524	118244036	41	8607											
ZNF182	7569	genome.wustl.edu	37	chrX	47842772	47842772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtactgccactcctcctGggtgaaatccacagctacat	8	14	0	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:47842772G>T	ENST00000396965.1	-	5	462	c.112C>A	c.(112-114)Cag>Aag	p.Q38K	ZNF182_ENST00000305127.6_Missense_Mutation_p.Q38K|ZNF182_ENST00000376943.3_Missense_Mutation_p.Q19K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	38	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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCCTCCTGGGTGAAATCC	0.453																																																	0								ENSG00000147118						117	100	106					X																	47842772		2203	4300	6503	ZNF182	SO:0001583	missense	0			-	HGNC	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.112C>A	X.37:g.47842772G>T	ENSP00000380165:p.Gln38Lys	Somatic	0	70	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q38K	ENST00000396965.1	37	c.112	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	G	3.239	-0.155675	0.06544	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.02085	4.46;4.46;4.46	3.84	0.867	0.19085	Krueppel-associated box (4);	.	.	.	.	T	0.02970	0.0088	M	0.75884	2.315	0.51767	D	0.999939	B;B;B	0.23185	0.081;0.053;0.0	B;B;B	0.26969	0.038;0.075;0.001	T	0.40478	-0.9561	9	0.20046	T	0.44	.	2.7249	0.05211	0.2339:0.0:0.3662:0.3999	.	19;19;38	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	19;38;38	ENSP00000366142:Q19K;ENSP00000380165:Q38K;ENSP00000306351:Q38K	ENSP00000306351:Q38K	Q	-	1	0	ZNF182	47727716	0.002000	0.14202	0.857000	0.33713	0.554000	0.35429	-0.181000	0.09740	0.044000	0.15775	0.513000	0.50165	CAG	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.453	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	protein_coding	OTTHUMT00000277055.1	G	NM_006962	-		47842772	-1	no_errors	ENST00000305127	ensembl	human	known	74_37	missense	SNP	0.877	T	T	47842772	G	T	47842772	3	4	113	1	0	0	0	0	1	0	0	0	17757	1357	47	3	1819	3	ZNF182	23	47842772	Missense_Mutation	SNP	G	TCGA-DX-AB2F-01A-11D-A387-09	10816248	47842772	107427788	42	8608											
WNK3	65267	genome.wustl.edu	37	chrX	54319436	54319436	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgaaccaaaggcaaaAtctgcggctgagtcagcttt	10	10	2	2			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:54319436A>T	ENST00000375159.2	-	9	1921	c.1922T>A	c.(1921-1923)aTt>aAt	p.I641N	WNK3_ENST00000375169.3_Missense_Mutation_p.I641N|WNK3_ENST00000354646.2_Missense_Mutation_p.I641N			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	641					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						CAAAGGCAAAATCTGCGGCTG	0.393																																																	0								ENSG00000196632						91	78	82					X																	54319436		2203	4300	6503	WNK3	SO:0001583	missense	0			-	HGNC	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.1922T>A	X.37:g.54319436A>T	ENSP00000364301:p.Ile641Asn	Somatic	0	113	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	74	14.94	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I641N	ENST00000375159.2	37	c.1922	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	A	3.268	-0.149630	0.06585	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70516	-0.46;-0.49;-0.49	5.45	2.98	0.34508	.	0.485871	0.18860	N	0.129180	T	0.48960	0.1529	N	0.24115	0.695	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.24977	-1.0145	10	0.19147	T	0.46	-0.2663	3.9896	0.09532	0.6988:0.0:0.1014:0.1998	.	641;641	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	N	641	ENSP00000364312:I641N;ENSP00000346667:I641N;ENSP00000364301:I641N	ENSP00000346667:I641N	I	-	2	0	WNK3	54336161	0.598000	0.26882	0.314000	0.25224	0.865000	0.49528	1.250000	0.32850	0.273000	0.22049	0.451000	0.29950	ATT	-	NULL		0.393	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	A	NM_020922	-		54319436	-1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	SNP	0.410	T	T	54319436	A	T	54319436	3	4	113	1	0	0	0	0	1	0	0	0	17386	101	4	5	3540	5	WNK3	23	54319436	Missense_Mutation	SNP	A	TCGA-DX-AB2F-01A-11D-A387-09	6476664	54319436	100951124	43	8609											
BRWD3	254065	genome.wustl.edu	37	chrX	79989633	79989633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgtatgtgactctaatTcagcaattttctcaggaacc	6	10	3	1			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:79989633T>G	ENST00000373275.4	-	11	1286	c.1070A>C	c.(1069-1071)gAa>gCa	p.E357A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	357					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						TGACTCTAATTCAGCAATTTT	0.333																																																	0								ENSG00000165288						118	109	112					X																	79989633		2203	4298	6501	BRWD3	SO:0001583	missense	0			-	HGNC		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.1070A>C	X.37:g.79989633T>G	ENSP00000362372:p.Glu357Ala	Somatic	0	177	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	89	24.58	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E357A	ENST00000373275.4	37	c.1070	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396578	0.83011	.	.	ENSG00000165288	ENST00000373275	T	0.60299	0.2	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	N	0.20685	0.6	0.58432	D	0.999994	D	0.64830	0.994	D	0.66602	0.945	T	0.59616	-0.7421	9	.	.	.	-16.9539	14.3934	0.66996	0.0:0.0:0.0:1.0	.	357	Q6RI45	BRWD3_HUMAN	A	357	ENSP00000362372:E357A	.	E	-	2	0	BRWD3	79876289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.716000	0.68437	1.976000	0.57569	0.441000	0.28932	GAA	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.333	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	protein_coding	OTTHUMT00000057344.1	T	NM_153252	-		79989633	-1	no_errors	ENST00000373275	ensembl	human	known	74_37	missense	SNP	1.000	G	G	79989633	T	G	79989633	3	3	113	1	0	0	0	0	1	0	0	0	1528	1783	62	5	4462	5	BRWD3	23	79989633	Missense_Mutation	SNP	T	TCGA-DX-AB2F-01A-11D-A387-09	25670197	79989633	75280927	44	8610											
SLC25A5	292	genome.wustl.edu	37	chrX	118603706	118603707	+	Frame_Shift_Ins	INS	-	-	G													gtccgtattcccaaggagcaINSgggagttctgtccttctggc					rs113356560		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:118603706_118603707insG	ENST00000317881.8	+	2	310_311	c.194_195insG	c.(193-198)cagggafs	p.QG65fs	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	65					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CCCAAGGAGCAGGGAGTTCTGT	0.49																																																	0								ENSG00000005022																																			SLC25A5	SO:0001589	frameshift_variant	0				HGNC	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.197dupG	X.37:g.118603709_118603709dupG	ENSP00000360671:p.Gln65fs	Somatic	0	40	0		0.626955706279978				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B2RCV1|O43350	Frame_Shift_Ins	INS							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.V67fs	ENST00000317881.8	37	c.194_195	CCDS14578.1	X																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor		0.49	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	protein_coding	OTTHUMT00000058952.2	-	NM_001152			118603707	1	no_errors	ENST00000317881	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	G	G	118603707	-	G	118603706	7	5	113	1	0	1	1	0	0	0	0	0	14520	188	7	0	200	0	SLC25A5	23	118603706	Frame_Shift_Ins	INS	-	TCGA-DX-AB2F-01A-11D-A387-09	38614073	118603706	36666854	45	8611											
PTCHD2	57540	genome.wustl.edu	37	chr1	11595642	11595642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccgtggattactgcGtccacctggtcgagggctac	12	14	0	0	rs200620988	byFrequency	TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr1:11595642G>A	ENST00000294484.6	+	20	3895	c.3757G>A	c.(3757-3759)Gtc>Atc	p.V1253I	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R139H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1253I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1253					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGATTACTGCGTCCACCTGGT	0.647													G|||	3	0.000599042	0	0	5008	,	,		16876	0		0.003	False		,,,				2504	0																0								ENSG00000204624	G	ILE/VAL	0,4272		0,0,2136	66	79	75		3757	4.6	1	1		75	1,8467		0,1,4233	no	missense	PTCHD2	NM_020780.1	29	0,1,6369	AA,AG,GG		0.0118,0.0,0.0078	benign	1253/1393	11595642	1,12739	2136	4234	6370	PTCHD2	SO:0001583	missense	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3757G>A	1.37:g.11595642G>A	ENSP00000294484:p.Val1253Ile	Somatic	0	87	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	57	35.23	Q5VTU9|Q9UJD6	Missense_Mutation	SNP							pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.V1253I	ENST00000294484.6	37	c.3757	CCDS41247.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.361984|3.361984	0.61403|0.61403	0.0|0.0	1.18E-4|1.18E-4	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.89681	.|-2.55;-2.55	5.55|5.55	4.64|4.64	0.57946|0.57946	.|Membrane transport protein, MMPL type (1);	.|0.190105	.|0.35067	.|N	.|0.003476	T|T	0.82098|0.82098	0.4963|0.4963	L|L	0.31476|0.31476	0.935|0.935	0.41867|0.41867	D|D	0.990257|0.990257	.|B	.|0.25105	.|0.118	.|B	.|0.21360	.|0.034	T|T	0.77627|0.77627	-0.2517|-0.2517	6|10	0.87932|0.31617	D|T	0|0.26	-37.0059|-37.0059	13.2863|13.2863	0.60245|0.60245	0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0	.|.	.|1253	.|Q9P2K9	.|PTHD2_HUMAN	H|I	139|1253	.|ENSP00000294484:V1253I;ENSP00000374226:V1253I	ENSP00000303400:R139H|ENSP00000294484:V1253I	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11518229|11518229	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.791000|0.791000	0.44710|0.44710	4.877000|4.877000	0.63086|0.63086	1.343000|1.343000	0.45638|0.45638	0.655000|0.655000	0.94253|0.94253	CGT|GTC	-	pfam_Patched,pfam_MMPL_dom		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	G	XM_052561	rs200620988		11595642	1	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11595642	G	A	11595642	3	1	114	1	0	0	0	0	1	0	0	0	12738	1145	40	1	3831	1	PTCHD2	1	11595642	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09		11595642	237654979	1	8612											
TCHHL1	126637	genome.wustl.edu	37	chr1	152057988	152057988	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgaattgtcctcatctaGactttctaacagagtattct	7	9	4	3			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr1:152057988G>T	ENST00000368806.1	-	3	2234	c.2170C>A	c.(2170-2172)Cta>Ata	p.L724I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	724							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)			TCCTCATCTAGACTTTCTAAC	0.448																																																	0								ENSG00000182898						157	162	160					1																	152057988		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.2170C>A	1.37:g.152057988G>T	ENSP00000357796:p.Leu724Ile	Somatic	0	33	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	28	46.15	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.L724I	ENST00000368806.1	37	c.2170	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	8.640	0.895752	0.17686	.	.	ENSG00000182898	ENST00000368806	T	0.25912	1.77	4.23	1.18	0.20946	.	0.839836	0.09491	N	0.794869	T	0.07098	0.0180	L	0.43152	1.355	0.09310	N	1	B	0.23591	0.088	B	0.21151	0.033	T	0.38607	-0.9653	10	0.37606	T	0.19	0.1945	4.845	0.13509	0.1038:0.0:0.5224:0.3738	.	724	Q5QJ38	TCHL1_HUMAN	I	724	ENSP00000357796:L724I	ENSP00000357796:L724I	L	-	1	2	TCHHL1	150324612	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.914000	0.28624	0.054000	0.16065	-0.899000	0.02877	CTA	-	NULL		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	G	XM_060104	-		152057988	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152057988	G	T	152057988	3	4	114	1	0	0	0	0	1	0	0	0	15708	933	33	3	548	3	TCHHL1	1	152057988	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	140462346	152057988	97192633	2	8613											
THBS3	7059	genome.wustl.edu	37	chr1	155176138	155176138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgagcaaggctgtccGgatcttctctgccacagcta	11	12	2	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr1:155176138G>A	ENST00000368378.3	-	2	159	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	MTX1_ENST00000316721.4_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.R47W|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|MTX1_ENST00000368376.3_5'Flank|MTX1_ENST00000609421.1_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	47	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGGCTGTCCGGATCTTCTCT	0.557																																																	0								ENSG00000169231						112	101	105					1																	155176138		2203	4300	6503	THBS3	SO:0001583	missense	0			-	HGNC	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.139C>T	1.37:g.155176138G>A	ENSP00000357362:p.Arg47Trp	Somatic	0	25	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R47W	ENST00000368378.3	37	c.139	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843422	0.91197	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	T;D;T	0.82255	-1.46;-1.59;-1.15	5.63	5.63	0.86233	Laminin G, thrombospondin-type, N-terminal (1);	0.139644	0.51477	D	0.000094	T	0.81163	0.4765	L	0.29908	0.895	0.29065	N	0.883681	D;D;D;D;D	0.89917	0.993;1.0;0.997;0.997;0.997	P;D;P;P;P	0.64687	0.639;0.928;0.776;0.776;0.613	T	0.76231	-0.3035	10	0.37606	T	0.19	-14.0698	17.5362	0.87832	0.0:0.0:1.0:0.0	.	47;47;47;47;47	B4DQ20;B4DQH6;Q53FK6;Q2HIZ0;P49746	.;.;.;.;TSP3_HUMAN	W	47	ENSP00000357362:R47W;ENSP00000392207:R47W;ENSP00000404040:R47W	ENSP00000357362:R47W	R	-	1	2	THBS3	153442762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.208000	0.51114	2.815000	0.96918	0.561000	0.74099	CGG	-	smart_Laminin_G		0.557	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	protein_coding	OTTHUMT00000086856.1	G	NM_007112	-		155176138	-1	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155176138	G	A	155176138	3	1	114	1	0	0	0	0	1	0	0	0	15862	1115	39	1	2819	1	THBS3	1	155176138	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	3118150	155176138	94074483	3	8614											
DUSP27	92235	genome.wustl.edu	37	chr1	167097263	167097263	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagggaagtacaccagatcGtccctgctcagggagacaga	13	10	1	4	rs201251775		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr1:167097263G>T	ENST00000361200.2	+	6	3061	c.2895G>T	c.(2893-2895)tcG>tcT	p.S965S	DUSP27_ENST00000443333.1_Silent_p.S965S|DUSP27_ENST00000271385.5_Silent_p.S965S|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	965	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACACCAGATCGTCCCTGCTCA	0.498																																																	0								ENSG00000198842						63	57	59					1																	167097263		2203	4300	6503	DUSP27	SO:0001819	synonymous_variant	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2895G>T	1.37:g.167097263G>T		Somatic	0	45	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	50	32.43	A0AUM4|Q9C074	Silent	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.S965	ENST00000361200.2	37	c.2895	CCDS30932.1	1																																																																																			-	NULL		0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	G	NM_001080426	-		167097263	1	no_errors	ENST00000271385	ensembl	human	known	74_37	silent	SNP	0.003	T	T	167097263	G	T	167097263	2	4	114	1	0	0	0	0	0	0	0	1	4826	1132	40	3		3	DUSP27	1	167097263	Silent	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	11921125	167097263	82153358	4	8615											
SELP	6403	genome.wustl.edu	37	chr1	169586354	169586354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgatgtatatctccacGcagtcctcgttgttcctttt	6	12	2	1	rs374152128		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr1:169586354G>A	ENST00000263686.6	-	3	430	c.393C>T	c.(391-393)tgC>tgT	p.C131C	SELP_ENST00000367793.2_Silent_p.C131C|SELP_ENST00000458599.2_Silent_p.C131C|SELP_ENST00000367788.2_Silent_p.C131C|SELP_ENST00000367786.2_Silent_p.C131C|SELP_ENST00000367791.2_Silent_p.C131C|SELP_ENST00000367794.2_Silent_p.C131C|SELP_ENST00000367792.2_Silent_p.C131C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.C131C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ATATCTCCACGCAGTCCTCGT	0.483													G|||	1	0.000199681	0	0	5008	,	,		17112	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000174175	G		1,4405	2.1+/-5.4	0,1,2202	255	233	240		393	-8.3	0.9	1		240	0,8600		0,0,4300	no	coding-synonymous	SELP	NM_003005.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		131/831	169586354	1,13005	2203	4300	6503	SELP	SO:0001819	synonymous_variant	0			-	HGNC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.393C>T	1.37:g.169586354G>A		Somatic	0	76	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	70	32.04	Q5R344|Q8IVD1	Silent	SNP							pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.C131	ENST00000263686.6	37	c.393	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202544	0.22121	2.27E-4	0.0	ENSG00000174175	ENST00000446728	.	.	.	5.79	-8.26	0.01021	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67409	-0.5678	4	.	.	.	-19.8016	17.3003	0.87181	0.8117:0.0:0.1883:0.0	.	.	.	.	C	131	.	.	R	-	1	0	SELP	167852978	0.000000	0.05858	0.887000	0.34795	0.867000	0.49689	-1.695000	0.01913	-1.454000	0.01926	-0.251000	0.11542	CGT	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.483	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	protein_coding	OTTHUMT00000083916.4	G	NM_003005	-		169586354	-1	no_errors	ENST00000263686	ensembl	human	known	74_37	silent	SNP	0.801	A	A	169586354	G	A	169586354	2	1	114	1	0	0	0	0	0	0	0	1	14027	1079	38	1		1	SELP	1	169586354	Silent	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	2489091	169586354	79664267	5	8616											
FHDC1	85462	genome.wustl.edu	37	chr4	153897251	153897251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccccccagcagcacagaTactgtgtggtcacgccagaa	9	14	1	2			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr4:153897251T>C	ENST00000511601.1	+	12	2996	c.2808T>C	c.(2806-2808)gaT>gaC	p.D936D	FHDC1_ENST00000260008.3_Silent_p.D936D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	936									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCAGCACAGATACTGTGTGGT	0.692																																																	0								ENSG00000137460						22	25	24					4																	153897251		2203	4298	6501	FHDC1	SO:0001819	synonymous_variant	0			-	HGNC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2808T>C	4.37:g.153897251T>C		Somatic	0	52	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92		Silent	SNP							pfam_FH2_Formin,smart_FH2_Formin	p.D936	ENST00000511601.1	37	c.2808	CCDS34081.1	4																																																																																			-	NULL		0.692	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	protein_coding	OTTHUMT00000364981.2	T	NM_033393	-		153897251	1	no_errors	ENST00000260008	ensembl	human	known	74_37	silent	SNP	0.000	C	C	153897251	T	C	153897251	2	2	114	1	0	0	0	0	0	0	0	1	5878	1403	49	5		5	FHDC1	4	153897251	Silent	SNP	T	TCGA-DX-AB2G-01A-11D-A38Z-09		153897251	37257025	6	8617											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41015559	41015559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcctgcaaaccctgcagtCtttccacttccaagtgaatg	6	14	1	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr5:41015559C>T	ENST00000399564.4	-	29	3356	c.2906G>A	c.(2905-2907)aGa>aAa	p.R969K	MROH2B_ENST00000506092.2_Missense_Mutation_p.R524K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	969																	ACCCTGCAGTCTTTCCACTTC	0.413																																																	0								ENSG00000171495						79	79	79					5																	41015559		1864	4094	5958	MROH2B	SO:0001583	missense	0			-	HGNC		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.2906G>A	5.37:g.41015559C>T	ENSP00000382476:p.Arg969Lys	Somatic	0	59	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	36.00	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R969K	ENST00000399564.4	37	c.2906	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	9.217	1.032374	0.19590	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64618	-0.11;-0.11	5.9	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.34411	U	0.003990	T	0.37758	0.1015	N	0.12182	0.205	0.26344	N	0.97731	B	0.16603	0.018	B	0.10450	0.005	T	0.11131	-1.0600	10	0.18276	T	0.48	.	6.8974	0.24262	0.0:0.8591:0.0:0.1409	.	969	Q7Z745	HTRB2_HUMAN	K	524;674;969	ENSP00000441504:R524K;ENSP00000382476:R969K	ENSP00000296803:R674K	R	-	2	0	HEATR7B2	41051316	0.999000	0.42202	0.903000	0.35520	0.334000	0.28698	1.350000	0.34010	2.806000	0.96561	0.655000	0.94253	AGA	-	superfamily_ARM-type_fold		0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	C	NM_173489	-		41015559	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	0.817	T	T	41015559	C	T	41015559	3	4	114	1	0	0	0	0	1	0	0	0	7037	913	32	2	1907	2	HEATR7B2	5	41015559	Missense_Mutation	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09		41015559	139899701	7	8618											
HCN1	348980	genome.wustl.edu	37	chr5	45695937	45695937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccgtactgccgccgggGcccctcggcgtcttcgaagc	14	16	1	0	rs370113959		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr5:45695937G>A	ENST00000303230.4	-	1	316	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	87					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						TGCCGCCGGGGCCCCTCGGCG	0.706																																																	0								ENSG00000164588	G	SER/PRO	1,4283		0,1,2141	14	17	16		259	2.4	1	5		16	0,8404		0,0,4202	no	missense	HCN1	NM_021072.3	74	0,1,6343	AA,AG,GG		0.0,0.0233,0.0079	benign	87/891	45695937	1,12687	2142	4202	6344	HCN1	SO:0001583	missense	0			-	HGNC	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.259C>T	5.37:g.45695937G>A	ENSP00000307342:p.Pro87Ser	Somatic	0	37	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	31.58		Missense_Mutation	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P87S	ENST00000303230.4	37	c.259	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486775	0.12641	2.33E-4	0.0	ENSG00000164588	ENST00000303230	D	0.97161	-4.27	4.18	2.36	0.29203	.	0.127977	0.32386	N	0.006162	D	0.89801	0.6820	N	0.12182	0.205	0.34515	D	0.707578	B	0.02656	0.0	B	0.01281	0.0	T	0.82831	-0.0263	10	0.08381	T	0.77	.	8.8148	0.34989	0.0848:0.1513:0.7639:0.0	.	87	O60741	HCN1_HUMAN	S	87	ENSP00000307342:P87S	ENSP00000307342:P87S	P	-	1	0	HCN1	45731694	0.981000	0.34729	0.996000	0.52242	0.521000	0.34408	1.913000	0.39956	0.382000	0.24878	-0.379000	0.06801	CCC	-	NULL		0.706	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	protein_coding	OTTHUMT00000253847.1	G	NM_021072	-		45695937	-1	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45695937	G	A	45695937	3	1	114	1	0	0	0	0	1	0	0	0	6998	1203	42	2	2445	2	HCN1	5	45695937	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	4680378	45695937	135219323	8	8619											
ELL2	22936	genome.wustl.edu	37	chr5	95236750	95236750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaacataatcctttaagGtatatgagaggtccttagaa	7	5	0	2			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr5:95236750G>A	ENST00000237853.4	-	6	1125	c.776C>T	c.(775-777)aCc>aTc	p.T259I	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	259					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATCCTTTAAGGTATATGAGAG	0.378																																																	0								ENSG00000118985						70	73	72					5																	95236750		2202	4299	6501	ELL2	SO:0001583	missense	0			-	HGNC	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.776C>T	5.37:g.95236750G>A	ENSP00000237853:p.Thr259Ile	Somatic	0	43	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	B4DNK7	Missense_Mutation	SNP							pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.T259I	ENST00000237853.4	37	c.776	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493790	0.84962	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.32753	1.44;1.44	5.52	5.52	0.82312	.	0.098954	0.64402	D	0.000001	T	0.55862	0.1947	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.57388	-0.7820	10	0.72032	D	0.01	-5.0417	19.0238	0.92925	0.0:0.0:1.0:0.0	.	259	O00472	ELL2_HUMAN	I	259;77	ENSP00000237853:T259I;ENSP00000423915:T77I	ENSP00000237853:T259I	T	-	2	0	ELL2	95262506	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	3.870000	0.56070	2.580000	0.87095	0.561000	0.74099	ACC	-	pfam_RNA_pol_II_elong_fac_ELL		0.378	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	protein_coding	OTTHUMT00000242846.1	G	NM_012081	-		95236750	-1	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95236750	G	A	95236750	3	1	114	1	0	0	0	0	1	0	0	0	5065	1261	44	2	1174	2	ELL2	5	95236750	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	49540813	95236750	85678510	9	8620											
GRAMD3	65983	genome.wustl.edu	37	chr5	125824561	125824561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgtcaagagcttacaGctaacatagtgaaattagaa	7	7	2	3			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr5:125824561G>T	ENST00000285689.3	+	13	1695	c.1234G>T	c.(1234-1236)Gct>Tct	p.A412S	GRAMD3_ENST00000542322.1_Missense_Mutation_p.A420S|GRAMD3_ENST00000515200.1_Missense_Mutation_p.A390S|GRAMD3_ENST00000511134.1_Missense_Mutation_p.A396S|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000502348.1_Missense_Mutation_p.A303S|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Missense_Mutation_p.A308S|GRAMD3_ENST00000513040.1_Missense_Mutation_p.A427S|GRAMD3_ENST00000543198.1_3'UTR	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	412						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGAGCTTACAGCTAACATAGT	0.438																																																	0								ENSG00000155324						79	83	81					5																	125824561		2203	4300	6503	GRAMD3	SO:0001583	missense	0			-	HGNC	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1234G>T	5.37:g.125824561G>T	ENSP00000285689:p.Ala412Ser	Somatic	0	34	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP							pfam_GRAM,smart_GRAM	p.A420S	ENST00000285689.3	37	c.1258	CCDS4136.1	5	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377971	0.42105	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T	0.35605	1.3;1.32;1.34;1.31;1.37;1.37;1.33	5.31	3.39	0.38822	.	0.421653	0.25607	N	0.029515	T	0.28134	0.0694	L	0.56769	1.78	0.30291	N	0.790383	B;B;B;P;B	0.35745	0.434;0.054;0.323;0.518;0.232	B;B;B;B;B	0.31390	0.067;0.05;0.079;0.129;0.067	T	0.19063	-1.0317	10	0.12766	T	0.61	.	9.4918	0.38965	0.1433:0.0:0.8567:0.0	.	396;308;420;427;412	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	S	427;412;390;420;308;303;396	ENSP00000426120:A427S;ENSP00000285689:A412S;ENSP00000426143:A390S;ENSP00000441876:A420S;ENSP00000444049:A308S;ENSP00000427596:A303S;ENSP00000426088:A396S	ENSP00000285689:A412S	A	+	1	0	GRAMD3	125852460	1.000000	0.71417	0.902000	0.35471	0.977000	0.68977	3.182000	0.50910	0.640000	0.30582	0.557000	0.71058	GCT	-	NULL		0.438	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD3	protein_coding	OTTHUMT00000250922.2	G	NM_023927	-		125824561	1	no_errors	ENST00000542322	ensembl	human	known	74_37	missense	SNP	0.977	T	T	125824561	G	T	125824561	3	4	114	1	0	0	0	0	1	0	0	0	6753	971	34	3	1498	3	GRAMD3	5	125824561	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	30587811	125824561	55090699	10	8621											
FBXO5	26271	genome.wustl.edu	37	chr6	153292351	153292351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccaggcaggggacctaTtttacaactggctttgagga	12	8	0	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr6:153292351T>C	ENST00000229758.3	-	5	1349	c.1291A>G	c.(1291-1293)Ata>Gta	p.I431V	FBXO5_ENST00000367241.3_Missense_Mutation_p.I385V|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	431					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AGGGGACCTATTTTACAACTG	0.353																																					NSCLC(121;372 1757 17721 17977 29669)												0								ENSG00000112029						121	115	117					6																	153292351		2203	4300	6503	FBXO5	SO:0001583	missense	0			-	HGNC	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1291A>G	6.37:g.153292351T>C	ENSP00000229758:p.Ile431Val	Somatic	0	83	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	317	9.43	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom	p.I431V	ENST00000229758.3	37	c.1291	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	T	3.044	-0.196955	0.06259	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.28454	1.61;1.61	5.57	2.76	0.32466	.	1.077680	0.06894	N	0.804738	T	0.02649	0.0080	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38265	-0.9669	10	0.02654	T	1	0.0496	6.1694	0.20408	0.0:0.2257:0.1425:0.6318	.	431	Q9UKT4	FBX5_HUMAN	V	431;385	ENSP00000229758:I431V;ENSP00000356210:I385V	ENSP00000229758:I431V	I	-	1	0	FBXO5	153334044	0.000000	0.05858	0.978000	0.43139	0.954000	0.61252	-0.614000	0.05604	0.905000	0.36596	0.533000	0.62120	ATA	-	NULL		0.353	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	protein_coding	OTTHUMT00000042757.1	T		-		153292351	-1	no_errors	ENST00000229758	ensembl	human	known	74_37	missense	SNP	0.304	C	C	153292351	T	C	153292351	3	2	114	1	0	0	0	0	1	0	0	0	5760	1493	52	5	56	5	FBXO5	6	153292351	Missense_Mutation	SNP	T	TCGA-DX-AB2G-01A-11D-A38Z-09		153292351	17822716	11	8622											
C8orf79	57604	genome.wustl.edu	37	chr8	12879396	12879396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccacagactgatgtttTggactccacagcctttatgc	8	11	0	3			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr8:12879396T>C	ENST00000524591.2	+	5	1697	c.1208T>C	c.(1207-1209)tTg>tCg	p.L403S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	403							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACTGATGTTTTGGACTCCACA	0.453																																																	0								ENSG00000250305						74	70	71					8																	12879396		1926	4149	6075	KIAA1456	SO:0001583	missense	0			-	HGNC	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1208T>C	8.37:g.12879396T>C	ENSP00000432695:p.Leu403Ser	Somatic	0	20	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q96AW6	Missense_Mutation	SNP							pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.L403S	ENST00000524591.2	37	c.1208	CCDS47808.1	8	.	.	.	.	.	.	.	.	.	.	T	3.581	-0.085583	0.07097	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.12879	2.64	4.36	-5.49	0.02584	.	1.181070	0.05971	N	0.642432	T	0.07413	0.0187	L	0.31120	0.905	0.32675	N	0.516283	B	0.14805	0.011	B	0.10450	0.005	T	0.45366	-0.9266	10	0.09084	T	0.74	2.4057	5.4213	0.16402	0.1075:0.15:0.5468:0.1957	.	403	Q9P272	K1456_HUMAN	S	403;316	ENSP00000432695:L403S	ENSP00000432695:L403S	L	+	2	0	AC135352.2	12923767	0.006000	0.16342	0.002000	0.10522	0.025000	0.11179	-0.146000	0.10250	-1.116000	0.02969	-0.316000	0.08728	TTG	-	NULL		0.453	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	protein_coding	OTTHUMT00000383262.2	T	NM_001099677	-		12879396	1	no_errors	ENST00000524591	ensembl	human	known	74_37	missense	SNP	0.001	C	C	12879396	T	C	12879396	3	2	114	1	0	0	0	0	1	0	0	0	2440	1821	63	5	1218	5	C8orf79	8	12879396	Missense_Mutation	SNP	T	TCGA-DX-AB2G-01A-11D-A38Z-09		12879396	133484626	12	8623											
KIAA1432	57589	genome.wustl.edu	37	chr9	5774107	5774107	+	Frame_Shift_Del	DEL	G	G	-													cccccgggcagaggagagcaGgggctcctccagccatggaa							TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr9:5774107delG	ENST00000414202.2	+	26	4324	c.4133delG	c.(4132-4134)aggfs	p.R1378fs	KIAA1432_ENST00000449720.2_Frame_Shift_Del_p.R1262fs|KIAA1432_ENST00000418622.3_Frame_Shift_Del_p.R1299fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGGAGAGCAGGGGCTCCTCC	0.557																																																	0								ENSG00000107036						66	63	64					9																	5774107		2203	4300	6503	KIAA1432	SO:0001589	frameshift_variant	0				HGNC																												ENST00000414202.2:c.4133delG	9.37:g.5774107delG	ENSP00000416696:p.Arg1378fs	Somatic	0	56	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	39	44.29		Frame_Shift_Del	DEL							pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.G1300fs	ENST00000414202.2	37	c.3896	CCDS34982.2	9																																																																																			-	NULL		0.557	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	protein_coding	OTTHUMT00000051636.3	G				5774107	1	no_errors	ENST00000418622	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	5774107	G	-	5774107	7	5	114	1	0	1	0	1	0	0	0	0	8235	1000	35	0	4068	0	KIAA1432	9	5774107	Frame_Shift_Del	DEL	G	TCGA-DX-AB2G-01A-11D-A38Z-09		5774107	135439324	13	8624											
KLF6	1316	genome.wustl.edu	37	chr10	3824222	3824223	+	Frame_Shift_Ins	INS	-	-	A													gttggtctctaagttgtaacINSaaaagctcgggctgatgaga							TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr10:3824222_3824223insA	ENST00000497571.1	-	2	546_547	c.286_287insT	c.(286-288)tgtfs	p.C96fs	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Frame_Shift_Ins_p.C96fs|KLF6_ENST00000542957.1_Frame_Shift_Ins_p.C96fs	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	96					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TAAGTTGTAACAAAAGCTCGGG	0.51											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000067082																																			KLF6	SO:0001589	frameshift_variant	0				HGNC	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.287dupT	10.37:g.3824226_3824226dupA	ENSP00000419923:p.Cys96fs	Somatic	0	34	0	614	0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Frame_Shift_Ins	INS							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C96fs	ENST00000497571.1	37	c.287_286	CCDS7060.1	10																																																																																			-	NULL		0.51	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	protein_coding	OTTHUMT00000046495.1	-				3824223	-1	no_errors	ENST00000497571	ensembl	human	known	74_37	frame_shift_ins	INS	0.628:0.578	A	A	3824223	-	A	3824222	7	5	114	1	0	1	1	0	0	0	0	0	8352	478	17	0	576	0	KLF6	10	3824222	Frame_Shift_Ins	INS	-	TCGA-DX-AB2G-01A-11D-A38Z-09		3824222	131710525	14	8625											
KIAA1217	56243	genome.wustl.edu	37	chr10	24832973	24832973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcaagccattcgcaccGgaactaaaacagggaagaag	9	11	2	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr10:24832973G>A	ENST00000376454.3	+	19	4804	c.4774G>A	c.(4774-4776)Gga>Aga	p.G1592R	KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.G1275R|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1592					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						CATTCGCACCGGAACTAAAAC	0.468																																																	0								ENSG00000120549						101	103	102					10																	24832973		2203	4300	6503	KIAA1217	SO:0001583	missense	0			-	HGNC	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.4774G>A	10.37:g.24832973G>A	ENSP00000365637:p.Gly1592Arg	Somatic	0	66	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	74	35.65	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP							pfam_AIP3_C	p.G1592R	ENST00000376454.3	37	c.4774	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835350	0.71373	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.67865	0.16;-0.29	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.66939	2.045	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	T	0.82542	-0.0405	10	0.62326	D	0.03	.	19.0404	0.92997	0.0:0.0:1.0:0.0	.	1275;1275;1592	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	R	1275;1592;1275;1275	ENSP00000365637:G1592R;ENSP00000365634:G1275R	ENSP00000365634:G1275R	G	+	1	0	KIAA1217	24872979	1.000000	0.71417	0.844000	0.33320	0.540000	0.34992	9.407000	0.97325	2.495000	0.84180	0.561000	0.74099	GGA	-	NULL		0.468	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	G	NM_019590	-		24832973	1	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24832973	G	A	24832973	3	1	114	1	0	0	0	0	1	0	0	0	8218	1117	39	1	4848	1	KIAA1217	10	24832973	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	21008751	24832973	110701774	15	8626											
CTBP2	1488	genome.wustl.edu	37	chr10	126715438	126715438	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagcccctccgcccgCagaaaggccaggaactcagg	11	17	2	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr10:126715438C>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Silent_p.L297L|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTCCGCCCGCAGAAAGGCCA	0.632																																																	0								ENSG00000175029						45	46	45					10																	126715438		2203	4300	6503	CTBP2	SO:0001627	intron_variant	0			-	HGNC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12127G>T	10.37:g.126715438C>A		Somatic	0	19	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	8	46.67	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.L297	ENST00000337195.5	37	c.891	CCDS7643.1	10																																																																																			-	NULL		0.632	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	protein_coding	OTTHUMT00000050900.3	C	NM_001083914	-		126715438	-1	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	SNP	1.000	A	A	126715438	C	A	126715438	1	1	114	0	1	0	0	0	0	0	0	0	4000	697	25	3		3	CTBP2	10	126715438	Intron	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09	101882465	126715438	8819309	16	8627											
FRG2B	441581	genome.wustl.edu	37	chr10	135439803	135439803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgtttggattgggctcCgatcctgctgcaagagaagg	13	9	0	1	rs202189720		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr10:135439803C>T	ENST00000425520.1	-	2	235	c.183G>A	c.(181-183)tcG>tcA	p.S61S	FRG2B_ENST00000443774.1_Silent_p.S62S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	61						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GATTGGGCTCCGATCCTGCTG	0.488																																																	0								ENSG00000225899						1	1	1					10																	135439803		23	64	87	FRG2B	SO:0001819	synonymous_variant	0			-	HGNC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.183G>A	10.37:g.135439803C>T		Somatic	0	8	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	Q5VSQ1	Silent	SNP							NULL	p.S61	ENST00000425520.1	37	c.183	CCDS44502.1	10																																																																																			-	NULL		0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	protein_coding	OTTHUMT00000467780.1	C	NM_001080998	rs202189720		135439803	-1	no_errors	ENST00000425520	ensembl	human	known	74_37	silent	SNP	0.213	T	T	135439803	C	T	135439803	2	4	114	1	0	0	0	0	0	0	0	1	6049	639	23	1		1	FRG2B	10	135439803	Silent	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09	8724365	135439803	94944	17	8628											
OR5J2	282775	genome.wustl.edu	37	chr11	55944659	55944659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgctaaagctgtcatGttctgacacctccatgaatg	7	11	3	2			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr11:55944659G>A	ENST00000312298.1	+	1	566	c.566G>A	c.(565-567)tGt>tAt	p.C189Y		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAGCTGTCATGTTCTGACACC	0.443																																																	0								ENSG00000174957						171	136	148					11																	55944659		2201	4295	6496	OR5J2	SO:0001583	missense	0			-	HGNC	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.566G>A	11.37:g.55944659G>A	ENSP00000310788:p.Cys189Tyr	Somatic	0	51	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	32	39.62	Q6IEU5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.C189Y	ENST00000312298.1	37	c.566	CCDS31522.1	11	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102375	0.56183	.	.	ENSG00000174957	ENST00000312298	T	0.00462	7.26	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.02571	0.0078	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30534	-0.9975	10	0.72032	D	0.01	.	17.7183	0.88344	0.0:0.0:1.0:0.0	.	189	Q8NH18	OR5J2_HUMAN	Y	189	ENSP00000310788:C189Y	ENSP00000310788:C189Y	C	+	2	0	OR5J2	55701235	1.000000	0.71417	0.771000	0.31576	0.156000	0.22039	4.943000	0.63554	2.355000	0.79922	0.591000	0.81541	TGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	protein_coding	OTTHUMT00000391544.1	G	NM_001005492	-		55944659	1	no_errors	ENST00000312298	ensembl	human	known	74_37	missense	SNP	0.993	A	A	55944659	G	A	55944659	3	1	114	1	0	0	0	0	1	0	0	0	11167	1377	48	2	568	2	OR5J2	11	55944659	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09		55944659	79061857	18	8629											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103128353	103128353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggaacgggatgcctatcTccccctggctgagagtgcca	12	12	1	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr11:103128353T>C	ENST00000375735.2	+	69	10622	c.10478T>C	c.(10477-10479)cTc>cCc	p.L3493P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3500P|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	3493					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)		GATGCCTATCTCCCCCTGGCT	0.428																																																	0								ENSG00000187240						127	119	122					11																	103128353		1882	4112	5994	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.10478T>C	11.37:g.103128353T>C	ENSP00000364887:p.Leu3493Pro	Somatic	0	73	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3500P	ENST00000375735.2	37	c.10499	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575288	0.45902	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.59083	0.29;0.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.79805	2.47	0.80722	D	1	D;D	0.63880	0.988;0.993	P;P	0.59761	0.733;0.863	T	0.77963	-0.2390	10	0.59425	D	0.04	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	3493;3500	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	P	3493;3500	ENSP00000364887:L3493P;ENSP00000381167:L3500P	ENSP00000364887:L3493P	L	+	2	0	DYNC2H1	102633563	1.000000	0.71417	0.966000	0.40874	0.273000	0.26683	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	CTC	-	NULL		0.428	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	T	XM_370652	-		103128353	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	C	C	103128353	T	C	103128353	3	2	114	1	0	0	0	0	1	0	0	0	4848	1551	54	5	10777	5	DYNC2H1	11	103128353	Missense_Mutation	SNP	T	TCGA-DX-AB2G-01A-11D-A38Z-09	47183694	103128353	31878163	19	8630											
KRT3	3850	genome.wustl.edu	37	chr12	53189521	53189525	+	Frame_Shift_Del	DEL	TCCAT	TCCAT	-													aagccaccaccaaagccaccTccatagccgctcccaaagcc					rs376089191		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	TCCAT	TCCAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr12:53189521_53189525delTCCAT	ENST00000417996.2	-	1	376_380	c.302_306delATGGA	c.(301-306)tatggafs	p.YG101fs	KRT3_ENST00000309505.3_Frame_Shift_Del_p.YG101fs	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	101	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						caaagccacctccatagccgctccc	0.649																																																	0								ENSG00000186442																																			KRT3	SO:0001589	frameshift_variant	0				HGNC		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.302_306delATGGA	12.37:g.53189521_53189525delTCCAT	ENSP00000413479:p.Tyr101fs	Somatic					0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NIS2|Q701L8	Frame_Shift_Del	DEL							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Y101fs	ENST00000417996.2	37	c.306_302	CCDS44895.1	12																																																																																			-	NULL		0.649	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	protein_coding	OTTHUMT00000405930.1	TCCAT	NM_057088			53189525	-1	no_errors	ENST00000309505	ensembl	human	known	74_37	frame_shift_del	DEL	0.969:0.972:0.924:0.546:0.186	-	-	53189525	TCCAT	-	53189521	7	5	114	1	0	1	0	1	0	0	0	0	8468	1538	54	0	1616	0	KRT3	12	53189521	Frame_Shift_Del	DEL	TCCAT	TCGA-DX-AB2G-01A-11D-A38Z-09		53189521	80662374	20	8631											
C12orf51	283450	genome.wustl.edu	37	chr12	112622883	112622885	+	In_Frame_Del	DEL	GAG	GAG	-													gggtctgtcctggggaggacGaggaggaggaggacgagtca							TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr12:112622883_112622885delGAG	ENST00000430131.2	-	60	9764_9766	c.8619_8621delCTC	c.(8617-8622)tcctcg>tcg	p.2873_2874SS>S	HECTD4_ENST00000377560.5_In_Frame_Del_p.3123_3124SS>S|HECTD4_ENST00000550722.1_In_Frame_Del_p.3149_3150SS>S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2873	Ser-rich.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGGAGGACGAGGAGGAGGAGG	0.601																																																	0								ENSG00000173064			43,3827		0,43,1892						-11.5	0.1			26	91,7885		9,73,3906	no	coding	C12orf51	NM_001109662.2		9,116,5798	A1A1,A1R,RR		1.1409,1.1111,1.1312				134,11712				HECTD4	SO:0001651	inframe_deletion	0				HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8619_8621delCTC	12.37:g.112622892_112622894delGAG	ENSP00000404379:p.Ser2876del	Somatic	0	39	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL							pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S3126in_frame_del	ENST00000430131.2	37	c.9371_9369		12																																																																																			-	NULL		0.601	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		GAG	NM_173813			112622885	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	in_frame_del	DEL	0.996:0.995:0.314	-	-	112622885	GAG	-	112622883	7	5	114	1	0	1	0	1	0	0	0	0	1698	1059	37	0	3433	0	C12orf51	12	112622883	In_Frame_Del	DEL	GAG	TCGA-DX-AB2G-01A-11D-A38Z-09	59433362	112622883	21229012	21	8632											
SRRM4	84530	genome.wustl.edu	37	chr12	119594485	119594485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagctctagctcccGcagccctagtccgggctccc	11	18	1	0			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr12:119594485G>A	ENST00000267260.4	+	13	2106	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	573	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTAGCTCCCGCAGCCCTAGT	0.726																																																	0								ENSG00000139767						4	5	5					12																	119594485		1837	3878	5715	SRRM4	SO:0001583	missense	0			-	HGNC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1718G>A	12.37:g.119594485G>A	ENSP00000267260:p.Arg573His	Somatic	0	15	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP							NULL	p.R573H	ENST00000267260.4	37	c.1718	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062146	0.76187	.	.	ENSG00000139767	ENST00000267260	T	0.25749	1.78	5.61	5.61	0.85477	.	0.169932	0.41938	D	0.000788	T	0.27832	0.0685	N	0.08118	0	0.40612	D	0.981687	D	0.71674	0.998	P	0.58660	0.843	T	0.17992	-1.0351	9	.	.	.	-5.8001	19.2425	0.93889	0.0:0.0:1.0:0.0	.	573	A7MD48	SRRM4_HUMAN	H	573	ENSP00000267260:R573H	.	R	+	2	0	SRRM4	118078868	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.488000	0.73637	2.658000	0.90341	0.650000	0.86243	CGC	-	NULL		0.726	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	protein_coding	OTTHUMT00000401640.2	G	NM_194286	-		119594485	1	no_errors	ENST00000267260	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119594485	G	A	119594485	3	1	114	1	0	0	0	0	1	0	0	0	15178	1087	38	1	1768	1	SRRM4	12	119594485	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	6971602	119594485	14257410	22	8633											
SDR39U1	23351	genome.wustl.edu	37	chr14	24911572	24911572	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtgatccggccgggccCgggctttcgggagaccaacg	15	15	0	2			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr14:24911572C>T	ENST00000251343.5	+	0	6225				SDR39U1_ENST00000538105.2_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555561.1_5'Flank|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.G35R|SDR39U1_ENST00000399390.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CGGCCGGGCCCGGGCTTTCGG	0.642																																																	0								ENSG00000100445						20	23	22					14																	24911572		1912	4113	6025	SDR39U1	SO:0001628	intergenic_variant	0			-	HGNC	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037			14.37:g.24911572C>T		Somatic	0	74	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	73	28.43	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP							pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put	p.G35R	ENST00000251343.5	37	c.103	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064699	0.55432	.	.	ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000556249	D	0.92397	-3.03	5.54	4.66	0.58398	.	0.153604	0.64402	D	0.000019	D	0.90359	0.6983	N	0.12887	0.27	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.89881	0.4030	10	0.36615	T	0.2	-11.0864	12.1474	0.54031	0.0:0.9183:0.0:0.0817	.	35	Q9NRG7-2	.	R	35;61;26	ENSP00000382327:G35R	ENSP00000336854:G61R	G	-	1	0	SDR39U1	23981412	0.993000	0.37304	0.036000	0.18154	0.336000	0.28762	4.603000	0.61105	1.590000	0.49995	0.650000	0.86243	GGG	-	pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put		0.642	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDR39U1	protein_coding	OTTHUMT00000412928.1	C		-		24911572	-1	no_errors	ENST00000399395	ensembl	human	known	74_37	missense	SNP	0.697	T	T	24911572	C	T	24911572	1	4	114	0	1	0	0	0	0	0	0	0	13980	652	23	1		1	SDR39U1	14	24911572	IGR	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09		24911572	82437968	23	8634											
GALNTL1	57452	genome.wustl.edu	37	chr14	69791508	69791508	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcgcacagtgaagagGtaagtccagccatgggactc	13	11	0	2			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr14:69791508G>T	ENST00000337827.4	+	3	761		c.e3+1		GALNT16_ENST00000448469.3_Splice_Site|GALNT16_ENST00000553669.1_Splice_Site	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16						protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|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)										CAGTGAAGAGGTAAGTCCAGC	0.607																																																	0								ENSG00000100626						100	73	82					14																	69791508		2203	4300	6503	GALNT16	SO:0001630	splice_region_variant	0			-	HGNC	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.434+1G>T	14.37:g.69791508G>T		Somatic	0	25	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q4KMG3|Q58A55|Q9ULT9	Splice_Site	SNP							-	e3+1	ENST00000337827.4	37	c.434+1	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606887	0.66558	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8154	0.96566	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNTL1	68861261	1.000000	0.71417	0.997000	0.53966	0.482000	0.33219	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	.	-	-		0.607	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	protein_coding	OTTHUMT00000412434.1	G	NM_001168368	-	Intron	69791508	1	no_errors	ENST00000337827	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	69791508	G	T	69791508	5	4	114	1	0	0	0	0	0	0	1	0	6223	1275	44	3	445	3	GALNTL1	14	69791508	Splice_Site	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09	44879936	69791508	37558032	24	8635											
ACSBG1	23205	genome.wustl.edu	37	chr15	78500436	78500436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagtggctgcctgtcaGtcagtgagctggggtggtga	19	6	2	3			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr15:78500436G>A	ENST00000258873.4	-	2	345	c.140C>T	c.(139-141)aCt>aTt	p.T47I	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	47					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCTGTCAGTCAGTGAGCT	0.577																																																	0								ENSG00000103740						58	48	51					15																	78500436		2196	4293	6489	ACSBG1	SO:0001583	missense	0			-	HGNC	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.140C>T	15.37:g.78500436G>A	ENSP00000258873:p.Thr47Ile	Somatic	0	33	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.T47I	ENST00000258873.4	37	c.140	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295893	0.23564	.	.	ENSG00000103740	ENST00000258873	T	0.27720	1.65	4.66	1.55	0.23275	.	0.469026	0.18109	N	0.151439	T	0.14056	0.0340	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23833	-1.0177	10	0.23891	T	0.37	-5.7454	6.1428	0.20269	0.1047:0.3703:0.525:0.0	.	47;47	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	I	47	ENSP00000258873:T47I	ENSP00000258873:T47I	T	-	2	0	ACSBG1	76287491	0.954000	0.32549	0.001000	0.08648	0.313000	0.28021	1.056000	0.30480	0.232000	0.21100	0.491000	0.48974	ACT	-	NULL		0.577	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	protein_coding	OTTHUMT00000289802.2	G	NM_015162	-		78500436	-1	no_errors	ENST00000258873	ensembl	human	known	74_37	missense	SNP	0.002	A	A	78500436	G	A	78500436	3	1	114	1	0	0	0	0	1	0	0	0	173	1029	36	2	2086	2	ACSBG1	15	78500436	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09		78500436	24030956	25	8636											
GRIN2A	2903	genome.wustl.edu	37	chr16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccagcatctgggctaCggcctcctggtccgtgtcgt	11	13	1	0			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCTGGGCTACGGCCTCCTGG	0.612																																																	0								ENSG00000183454						85	81	82					16																	10273944		2197	4300	6497	GRIN2A	SO:0001583	missense	0			-	HGNC		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.325G>A	16.37:g.10273944C>T	ENSP00000379818:p.Val109Ile	Somatic	0	49	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	55	34.52	O00669|Q17RZ6	Missense_Mutation	SNP							pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V109I	ENST00000396573.2	37	c.325	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	7.439	0.640383	0.14386	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.54	3.46	0.39613	Extracellular ligand-binding receptor (1);	0.152333	0.38897	N	0.001532	T	0.67906	0.2943	N	0.04116	-0.275	0.80722	D	1	B;B;B	0.17268	0.021;0.002;0.001	B;B;B	0.17433	0.018;0.004;0.002	T	0.61352	-0.7080	9	.	.	.	.	6.8525	0.24022	0.0:0.747:0.0:0.253	.	109;109;109	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	109	ENSP00000379818:V109I;ENSP00000385872:V109I;ENSP00000332549:V109I;ENSP00000379820:V109I	.	V	-	1	0	GRIN2A	10181445	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.091000	0.57700	2.088000	0.63022	0.561000	0.74099	GTA	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.612	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	C		-		10273944	-1	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10273944	C	T	10273944	3	4	114	1	0	0	0	0	1	0	0	0	6781	536	19	1	4117	1	GRIN2A	16	10273944	Missense_Mutation	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09		10273944	80080809	26	8637											
PRKCB	5579	genome.wustl.edu	37	chr16	24192129	24192129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacctaaaacttgacaaCgtgatgctcgattctgaggg	11	8	1	4			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr16:24192129C>T	ENST00000321728.7	+	13	1588	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	PRKCB_ENST00000303531.7_Silent_p.N471N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AACTTGACAACGTGATGCTCG	0.418																																																	0								ENSG00000166501						201	176	184					16																	24192129		2197	4300	6497	PRKCB	SO:0001819	synonymous_variant	0			-	HGNC	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1413C>T	16.37:g.24192129C>T		Somatic	0	56	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	67	30.93	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.N471	ENST00000321728.7	37	c.1413	CCDS10618.1	16																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	protein_coding	OTTHUMT00000254504.2	C	NM_212535	-		24192129	1	no_errors	ENST00000303531	ensembl	human	known	74_37	silent	SNP	0.577	T	T	24192129	C	T	24192129	2	4	114	1	0	0	0	0	0	0	0	1	12513	535	19	1		1	PRKCB	16	24192129	Silent	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09	13918185	24192129	66162624	27	8638											
DNAH9	1770	genome.wustl.edu	37	chr17	11725755	11725755	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccttctgacttctcagGtgactctctgtttctcccct	5	17	4	2			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr17:11725755G>T	ENST00000262442.4	+	47	8919	c.8851G>T	c.(8851-8853)Gtg>Ttg	p.V2951L	DNAH9_ENST00000454412.2_Splice_Site_p.V2951L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2951	AAA 4. {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)			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)		GACTTCTCAGGTGACTCTCTG	0.537																																																	0								ENSG00000007174						115	106	109					17																	11725755		2203	4300	6503	DNAH9	SO:0001630	splice_region_variant	0			-	HGNC	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.8851-1G>T	17.37:g.11725755G>T		Somatic	0	39	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V2951L	ENST00000262442.4	37	c.8851	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135627	0.56828	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.39592	1.07;1.07	3.68	2.71	0.32032	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000005	T	0.48114	0.1482	M	0.78456	2.415	0.80722	D	1	B	0.22983	0.078	B	0.36766	0.232	T	0.44726	-0.9309	9	.	.	.	.	11.2998	0.49298	0.0908:0.0:0.9092:0.0	.	2951	Q9NYC9	DYH9_HUMAN	L	2951;2951;1533	ENSP00000262442:V2951L;ENSP00000414874:V2951L	.	V	+	1	0	DNAH9	11666480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.142000	0.71750	0.893000	0.36288	0.563000	0.77884	GTG	-	superfamily_P-loop_NTPase		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372	-	Missense_Mutation	11725755	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11725755	G	T	11725755	5	4	114	1	0	0	0	0	0	0	1	0	4610	1275	44	3	9037	3	DNAH9	17	11725755	Splice_Site	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09		11725755	69469455	28	8639											
MPO	4353	genome.wustl.edu	37	chr17	56348017	56348017	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcacccccttacctggcctCtaggaggcttccctccagga	9	17	1	0			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr17:56348017C>A	ENST00000225275.3	-	12	2414	c.2238G>T	c.(2236-2238)taG>taT	p.*746Y	MPO_ENST00000340482.3_Nonstop_Mutation_p.*778Y	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	0					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TACCTGGCCTCTAGGAGGCTT	0.552																																																	0								ENSG00000005381						58	53	55					17																	56348017		2202	4298	6500	MPO	SO:0001578	stop_lost	0			-	HGNC		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2238G>T	17.37:g.56348017C>A		Somatic	0	26	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Nonstop_Mutation	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.*778Y	ENST00000225275.3	37	c.2334	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994172	0.19043	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	.	.	.	5.46	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6169	0.51094	0.0:0.9185:0.0:0.0815	.	.	.	.	Y	778;746	.	.	X	-	3	2	MPO	53703016	0.002000	0.14202	0.962000	0.40283	0.018000	0.09664	0.760000	0.26475	1.434000	0.47414	0.655000	0.94253	TAG	-	NULL		0.552	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	protein_coding	OTTHUMT00000443971.1	C		-		56348017	-1	no_errors	ENST00000340482	ensembl	human	known	74_37	nonstop	SNP	0.724	A	A	56348017	C	A	56348017	4	1	114	1	0	0	0	0	0	0	0	0	9734	924	32	3	3	3	MPO	17	56348017	Nonstop_Mutation	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09	44622262	56348017	24847193	29	8640											
KIAA1632	57724	genome.wustl.edu	37	chr18	43432446	43432446	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgttaactatcgtatgtggtCcaaataatgcacttctggat	8	7	1	0	rs200967600		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr18:43432446C>G	ENST00000282041.5	-	44	7760	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2576					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGTATGTGGTCCAAATAATGC	0.408																																																	0								ENSG00000152223						118	107	110					18																	43432446		1868	4116	5984	EPG5	SO:0001583	missense	0			-	HGNC	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7726G>C	18.37:g.43432446C>G	ENSP00000282041:p.Asp2576His	Somatic	0	68	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	158	23.56	A2BDF3|Q9H8C8	Missense_Mutation	SNP							NULL	p.D2576H	ENST00000282041.5	37	c.7726	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065886	0.55539	.	.	ENSG00000152223	ENST00000282041;ENST00000540322	T	0.10860	2.83	6.07	6.07	0.98685	.	0.101127	0.39615	U	0.001308	T	0.11324	0.0276	L	0.42245	1.32	0.45183	D	0.998192	P	0.40332	0.713	B	0.36845	0.234	T	0.01608	-1.1313	10	0.51188	T	0.08	-16.1305	13.8	0.63194	0.0:0.9304:0.0:0.0696	.	2576	Q9HCE0	EPG5_HUMAN	H	2576;504	ENSP00000282041:D2576H	ENSP00000282041:D2576H	D	-	1	0	EPG5	41686444	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.005000	0.63972	2.890000	0.99128	0.585000	0.79938	GAC	-	NULL		0.408	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	protein_coding	OTTHUMT00000445081.1	C	NM_020964	-		43432446	-1	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43432446	C	G	43432446	3	3	114	1	0	0	0	0	1	0	0	0	8251	855	30	4	17	4	KIAA1632	18	43432446	Missense_Mutation	SNP	C	TCGA-DX-AB2G-01A-11D-A38Z-09		43432446	34644802	30	8641											
OR7A5	26659	genome.wustl.edu	37	chr19	14938248	14938248	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggctgttgcacttgagTgtgagttgcgggtggcagca	17	7	0	3	rs112284734	byFrequency	TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr19:14938248T>A	ENST00000322301.3	-	2	893	c.806A>T	c.(805-807)cAc>cTc	p.H269L	OR7A5_ENST00000594432.1_Missense_Mutation_p.H269L|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	269					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)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGCACTTGAGTGTGAGTTGCG	0.483																																																	0								ENSG00000188269						94	81	86					19																	14938248		2203	4300	6503	OR7A5	SO:0001583	missense	0			-	HGNC	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.806A>T	19.37:g.14938248T>A	ENSP00000316955:p.His269Leu	Somatic	0	75	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	91	9.00	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H269L	ENST00000322301.3	37	c.806	CCDS12318.1	19	.	.	.	.	.	.	.	.	.	.	t	11.34	1.609869	0.28712	.	.	ENSG00000188269	ENST00000322301	T	0.00069	8.77	3.12	-0.173	0.13322	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.20445	0.575	0.09310	N	1	B	0.23990	0.095	B	0.33254	0.16	T	0.04976	-1.0914	9	0.48119	T	0.1	.	6.5609	0.22485	0.0:0.5426:0.0:0.4574	.	269	Q15622	OR7A5_HUMAN	L	269	ENSP00000316955:H269L	ENSP00000316955:H269L	H	-	2	0	OR7A5	14799248	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.053000	0.11846	0.050000	0.15949	0.102000	0.15555	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A5	protein_coding	OTTHUMT00000466518.1	T	NM_017506	rs112284734		14938248	-1	no_errors	ENST00000322301	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14938248	T	A	14938248	3	1	114	1	0	0	0	0	1	0	0	0	11218	1696	59	5	157	5	OR7A5	19	14938248	Missense_Mutation	SNP	T	TCGA-DX-AB2G-01A-11D-A38Z-09		14938248	44190735	31	8642											
FOXS1	2307	genome.wustl.edu	37	chr20	30432800	30432800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccgaggcctgccatcAgtggttgctgggcacatact	15	11	1	0	rs369259178		TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr20:30432800A>G	ENST00000375978.3	-	1	620	c.546T>C	c.(544-546)acT>acC	p.T182T		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	182					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCCATCAGTGGTTGCTG	0.637																																																	0								ENSG00000179772						45	42	43					20																	30432800		2203	4300	6503	FOXS1	SO:0001819	synonymous_variant	0			-	HGNC	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.546T>C	20.37:g.30432800A>G		Somatic	0	51	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	Q96D28	Silent	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T182	ENST00000375978.3	37	c.546	CCDS13192.1	20																																																																																			-	NULL		0.637	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	protein_coding	OTTHUMT00000078560.2	A	NM_004118	-		30432800	-1	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	SNP	0.527	G	G	30432800	A	G	30432800	2	3	114	1	0	0	0	0	0	0	0	1	6037	175	7	5		5	FOXS1	20	30432800	Silent	SNP	A	TCGA-DX-AB2G-01A-11D-A38Z-09		30432800	32592720	32	8643											
ZNF280A	129025	genome.wustl.edu	37	chr22	22869108	22869108	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccatctcctttatgctGtccatagtaaaagttgctaa	6	11	1	0			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chr22:22869108G>C	ENST00000302097.3	-	2	1099	c.847C>G	c.(847-849)Cag>Gag	p.Q283E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	283					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(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTTTATGCTGTCCATAGTAA	0.398																																																	0								ENSG00000169548						122	111	115					22																	22869108		2203	4300	6503	ZNF280A	SO:0001583	missense	0			-	HGNC	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.847C>G	22.37:g.22869108G>C	ENSP00000302855:p.Gln283Glu	Somatic	0	91	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	60	23.08		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q283E	ENST00000302097.3	37	c.847	CCDS13800.1	22	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264647	0.23136	.	.	ENSG00000169548	ENST00000302097	T	0.01152	5.26	3.67	1.4	0.22301	.	.	.	.	.	T	0.01421	0.0046	L	0.43701	1.375	0.09310	N	1	B	0.22851	0.076	B	0.19666	0.026	T	0.43278	-0.9401	9	0.37606	T	0.19	.	9.5621	0.39376	0.0:0.4223:0.5777:0.0	.	283	P59817	Z280A_HUMAN	E	283	ENSP00000302855:Q283E	ENSP00000302855:Q283E	Q	-	1	0	ZNF280A	21199108	0.993000	0.37304	0.051000	0.19133	0.955000	0.61496	1.250000	0.32850	0.458000	0.26988	0.655000	0.94253	CAG	-	NULL		0.398	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	protein_coding	OTTHUMT00000075433.3	G	NM_080740	-		22869108	-1	no_errors	ENST00000302097	ensembl	human	known	74_37	missense	SNP	0.262	C	C	22869108	G	C	22869108	3	2	114	1	0	0	0	0	1	0	0	0	17821	1386	48	4	785	4	ZNF280A	22	22869108	Missense_Mutation	SNP	G	TCGA-DX-AB2G-01A-11D-A38Z-09		22869108	28435458	33	8644											
GPRASP2	114928	genome.wustl.edu	37	chrX	101970023	101970023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggggcaaggcccaaaActgaggtccaagtaatgggt	14	8	1	1			TCGA-DX-AB2G-01A-11D-A38Z-09	TCGA-DX-AB2G-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b779d1d-4305-4534-bbce-2ed53f2269c0	b525edfb-1ff0-4bbb-8c86-4c4f1f38d5d4	g.chrX:101970023A>T	ENST00000535209.1	+	4	1057	c.226A>T	c.(226-228)Act>Tct	p.T76S	GPRASP2_ENST00000543253.1_Missense_Mutation_p.T76S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.T76S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	76						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGGCCCAAAACTGAGGTCCA	0.592																																																	0								ENSG00000158301						82	78	80					X																	101970023		2203	4300	6503	GPRASP2	SO:0001583	missense	0			-	HGNC	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.226A>T	X.37:g.101970023A>T	ENSP00000437394:p.Thr76Ser	Somatic	0	12	0		0.620886511986051				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	8	70.37	D3DXA0|Q8NAB4	Missense_Mutation	SNP							pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.T76S	ENST00000535209.1	37	c.226	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946750	0.18356	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07327	3.2;3.2;3.2	4.58	3.3	0.37823	.	0.360661	0.20220	N	0.096717	T	0.03095	0.0091	N	0.19112	0.55	0.22081	N	0.999374	P	0.43750	0.816	B	0.31442	0.13	T	0.32025	-0.9922	10	0.12430	T	0.62	.	3.5566	0.07866	0.6508:0.2293:0.1199:0.0	.	76	Q96D09	GASP2_HUMAN	S	76	ENSP00000437872:T76S;ENSP00000437394:T76S;ENSP00000339057:T76S	ENSP00000339057:T76S	T	+	1	0	GPRASP2	101856679	0.000000	0.05858	0.948000	0.38648	0.584000	0.36387	0.354000	0.20146	1.766000	0.52107	0.486000	0.48141	ACT	-	NULL		0.592	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	protein_coding	OTTHUMT00000057626.2	A	NM_138437	-		101970023	1	no_errors	ENST00000332262	ensembl	human	known	74_37	missense	SNP	0.894	T	T	101970023	A	T	101970023	3	4	114	1	0	0	0	0	1	0	0	0	6725	43	2	5	228	5	GPRASP2	23	101970023	Missense_Mutation	SNP	A	TCGA-DX-AB2G-01A-11D-A38Z-09		101970023	53300537	34	8645											
XKR8	55113	genome.wustl.edu	37	chr1	28293381	28293381	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcacccgaggccgggccatCatccacttcgccttcctcct	8	20	1	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:28293381C>A	ENST00000373884.5	+	3	1466	c.858C>A	c.(856-858)atC>atA	p.I286I		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	286					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCCGGGCCATCATCCACTTCG	0.642																																																	0								ENSG00000158156						33	33	33					1																	28293381		2203	4299	6502	XKR8	SO:0001819	synonymous_variant	0			-	HGNC	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.858C>A	1.37:g.28293381C>A		Somatic	0	55	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	24	53.85		Silent	SNP							pfam_Transport_prot_XK	p.I286	ENST00000373884.5	37	c.858	CCDS315.1	1																																																																																			-	pfam_Transport_prot_XK		0.642	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	protein_coding	OTTHUMT00000011175.1	C	NM_018053	-		28293381	1	no_errors	ENST00000373884	ensembl	human	known	74_37	silent	SNP	0.999	A	A	28293381	C	A	28293381	2	1	115	1	0	0	0	0	0	0	0	1	17444	816	29	3		3	XKR8	1	28293381	Silent	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		28293381	220957240	1	8646											
LRRC8B	23507	genome.wustl.edu	37	chr1	90050305	90050305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcattccagaagaaatccAgtatctgagtaatttgcagt	7	8	2	3			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:90050305A>C	ENST00000330947.2	+	5	2456	c.2096A>C	c.(2095-2097)cAg>cCg	p.Q699P	LRRC8B_ENST00000358200.4_Missense_Mutation_p.Q699P|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.Q699P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	699					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAAGAAATCCAGTATCTGAGT	0.348																																																	0								ENSG00000197147						75	73	74					1																	90050305		2203	4300	6503	LRRC8B	SO:0001583	missense	0			-	HGNC	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2096A>C	1.37:g.90050305A>C	ENSP00000332674:p.Gln699Pro	Somatic	0	13	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q699P	ENST00000330947.2	37	c.2096	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657937	0.47467	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.58940	0.3;0.3;0.3	5.39	5.39	0.77823	.	0.182760	0.38720	N	0.001587	T	0.33118	0.0852	L	0.28192	0.835	0.39360	D	0.965903	D	0.55385	0.971	P	0.46026	0.501	T	0.19778	-1.0295	9	.	.	.	.	10.4578	0.44561	0.9171:0.0:0.0829:0.0	.	699	Q6P9F7	LRC8B_HUMAN	P	699	ENSP00000332674:Q699P;ENSP00000350933:Q699P;ENSP00000400704:Q699P	.	Q	+	2	0	LRRC8B	89822893	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.333000	0.59285	2.165000	0.68154	0.459000	0.35465	CAG	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.348	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	protein_coding	OTTHUMT00000028008.1	A	NM_015350	-		90050305	1	no_errors	ENST00000330947	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90050305	A	C	90050305	3	2	115	1	0	0	0	0	1	0	0	0	9024	188	7	5	2098	5	LRRC8B	1	90050305	Missense_Mutation	SNP	A	TCGA-DX-AB2H-01A-11D-A38Z-09	61756924	90050305	159200316	2	8647											
LMNA	4000	genome.wustl.edu	37	chr1	156084886	156084886	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaacggagaacgcagggctGcgccttcgcatcaccgagtc	13	13	1	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:156084886G>T	ENST00000368300.4	+	1	389	c.177G>T	c.(175-177)ctG>ctT	p.L59L	LMNA_ENST00000368301.2_Silent_p.L59L|LMNA_ENST00000361308.4_Silent_p.L59L|LMNA_ENST00000368299.3_Silent_p.L59L|LMNA_ENST00000347559.2_Silent_p.L59L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	59	Coil 1A.|Interaction with MLIP.|Rod.		L -> R (in CMDHH). {ECO:0000269|PubMed:17150192, ECO:0000269|PubMed:19283854}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACGCAGGGCTGCGCCTTCGCA	0.647									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0								ENSG00000160789						35	30	31					1																	156084886		2193	4296	6489	LMNA	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	-	HGNC	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.177G>T	1.37:g.156084886G>T		Somatic	0	32	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP							pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.L59	ENST00000368300.4	37	c.177	CCDS1129.1	1																																																																																			-	pfam_IF,superfamily_Prefoldin		0.647	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	protein_coding	OTTHUMT00000039200.2	G	NM_170707	-		156084886	1	no_errors	ENST00000368300	ensembl	human	known	74_37	silent	SNP	1.000	T	T	156084886	G	T	156084886	2	4	115	1	0	0	0	0	0	0	0	1	8850	1306	46	3		3	LMNA	1	156084886	Silent	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	66034581	156084886	93165735	3	8648											
SCCPDH	51097	genome.wustl.edu	37	chr1	246890241	246890241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatcatctgtgatattGctaatccagcctcgcttgat	7	10	3	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:246890241G>T	ENST00000366510.3	+	2	614	c.238G>T	c.(238-240)Gct>Tct	p.A80S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	80						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGATATTGCTAATCCAGC	0.383																																																	0								ENSG00000143653						145	127	133					1																	246890241		2203	4300	6503	SCCPDH	SO:0001583	missense	0			-	HGNC		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.238G>T	1.37:g.246890241G>T	ENSP00000355467:p.Ala80Ser	Somatic	0	57	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q8TAR0|Q9Y363	Missense_Mutation	SNP							pfam_Saccharopine_DH/HSpermid_syn	p.A80S	ENST00000366510.3	37	c.238	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	G	1.417	-0.574047	0.03882	.	.	ENSG00000143653	ENST00000366510	T	0.40756	1.02	6.17	0.935	0.19483	.	0.624103	0.17849	N	0.159937	T	0.12732	0.0309	N	0.03983	-0.305	0.09310	N	0.99999	B	0.02656	0.0	B	0.10450	0.005	T	0.27434	-1.0074	10	0.02654	T	1	.	2.3502	0.04281	0.5187:0.2365:0.131:0.1138	.	80	Q8NBX0	SCPDL_HUMAN	S	80	ENSP00000355467:A80S	ENSP00000355467:A80S	A	+	1	0	SCCPDH	244956864	0.003000	0.15002	0.486000	0.27416	0.739000	0.42172	0.777000	0.26718	0.172000	0.19760	-1.087000	0.02190	GCT	-	pfam_Saccharopine_DH/HSpermid_syn		0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	protein_coding	OTTHUMT00000096902.2	G	NM_016002	-		246890241	1	no_errors	ENST00000366510	ensembl	human	known	74_37	missense	SNP	0.330	T	T	246890241	G	T	246890241	3	4	115	1	0	0	0	0	1	0	0	0	13893	1319	46	3	244	3	SCCPDH	1	246890241	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	90805355	246890241	2360380	4	8649											
ASXL2	55252	genome.wustl.edu	37	chr2	25966165	25966165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgctgctgcgtagctGgatgggactgtctctcatta	12	11	2	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:25966165G>A	ENST00000435504.4	-	13	3334	c.3041C>T	c.(3040-3042)cCa>cTa	p.P1014L	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.P986L|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1014					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)					CTGCGTAGCTGGATGGGACTG	0.532																																																	0								ENSG00000143970						60	63	62					2																	25966165		1962	4166	6128	ASXL2	SO:0001583	missense	0			-	HGNC			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.3041C>T	2.37:g.25966165G>A	ENSP00000391447:p.Pro1014Leu	Somatic	0	71	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	36	49.30	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.P1014L	ENST00000435504.4	37	c.3041		2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.057432	0.00390	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.16597	2.33;2.33	6.07	1.7	0.24286	.	0.492413	0.22881	N	0.054519	T	0.09113	0.0225	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.23511	-1.0186	10	0.87932	D	0	-1.8346	4.9635	0.14078	0.3668:0.1543:0.4788:0.0	.	1014	Q76L83	ASXL2_HUMAN	L	1014;986	ENSP00000391447:P1014L;ENSP00000337250:P986L	ENSP00000337250:P986L	P	-	2	0	ASXL2	25819669	0.001000	0.12720	0.042000	0.18584	0.019000	0.09904	1.088000	0.30877	0.429000	0.26202	-0.176000	0.13171	CCA	-	NULL		0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	protein_coding	OTTHUMT00000325593.3	G	NM_018263	-		25966165	-1	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	SNP	0.000	A	A	25966165	G	A	25966165	3	1	115	1	0	0	0	0	1	0	0	0	1067	1348	47	2	1270	2	ASXL2	2	25966165	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		25966165	217233208	5	8650											
CAD	790	genome.wustl.edu	37	chr2	27464970	27464970	+	Frame_Shift_Del	DEL	C	C	-													gacgtcgtcgtgctccggcaCccccagcctggagcagtgga							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:27464970delC	ENST00000403525.1	+	38	6030	c.5886delC	c.(5884-5886)cacfs	p.H1962fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.H2025fs			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)					TGCTCCGGCACCCCCAGCCTG	0.617																																																	0								ENSG00000084774						27	26	27					2																	27464970		2203	4298	6501	CAD	SO:0001589	frameshift_variant	0				HGNC	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.5886delC	2.37:g.27464970delC	ENSP00000384510:p.His1962fs	Somatic	0	22	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL							pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.Q2027fs	ENST00000403525.1	37	c.6075		2																																																																																			-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	C				27464970	1	no_errors	ENST00000264705	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	27464970	C	-	27464970	7	5	115	1	0	1	0	1	0	0	0	0	2567	506	18	0	6229	0	CAD	2	27464970	Frame_Shift_Del	DEL	C	TCGA-DX-AB2H-01A-11D-A38Z-09	1498805	27464970	215734403	6	8651											
CNGA3	1261	genome.wustl.edu	37	chr2	99012444	99012444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaggtgggcacaaactacCcagaagtgaggttcaaccgc	11	10	1	2	rs149802213	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:99012444C>A	ENST00000272602.2	+	7	850	c.811C>A	c.(811-813)Cca>Aca	p.P271T	CNGA3_ENST00000393504.1_Missense_Mutation_p.P271T|CNGA3_ENST00000436404.2_Missense_Mutation_p.P253T|CNGA3_ENST00000409937.1_Missense_Mutation_p.P275T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	271					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						CACAAACTACCCAGAAGTGAG	0.517																																																	0								ENSG00000144191						94	85	88					2																	99012444		2203	4300	6503	CNGA3	SO:0001583	missense	0			-	HGNC	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.811C>A	2.37:g.99012444C>A	ENSP00000272602:p.Pro271Thr	Somatic	0	55	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP							pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P271T	ENST00000272602.2	37	c.811	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080271	0.76528	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.85542	2.76	0.80722	D	1	P;P;P	0.52577	0.621;0.616;0.954	P;P;P	0.57152	0.688;0.574;0.814	D	0.99136	1.0854	10	0.66056	D	0.02	.	18.154	0.89686	0.0:1.0:0.0:0.0	.	275;253;271	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	T	271;253;271;275	ENSP00000377140:P271T;ENSP00000410070:P253T;ENSP00000272602:P271T;ENSP00000386761:P275T	ENSP00000272602:P271T	P	+	1	0	CNGA3	98378876	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.320000	0.79064	2.826000	0.97356	0.563000	0.77884	CCA	-	pfam_Ion_trans_dom		0.517	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	C	NM_001298	-		99012444	1	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99012444	C	A	99012444	3	1	115	1	0	0	0	0	1	0	0	0	3600	623	22	3	837	3	CNGA3	2	99012444	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	71547474	99012444	144186929	7	8652											
R3HDM1	23518	genome.wustl.edu	37	chr2	136437847	136437860	+	Frame_Shift_Del	DEL	GCCTGTTTACTATA	GCCTGTTTACTATA	-													tctatgcccacaacaggaatGcctgtttactatagtgtcat							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	GCCTGTTTACTATA	GCCTGTTTACTATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:136437847_136437860delGCCTGTTTACTATA	ENST00000264160.4	+	20	2677_2690	c.2307_2320delGCCTGTTTACTATA	c.(2305-2322)atgcctgtttactatagtfs	p.PVYYS770fs	R3HDM1_ENST00000410054.1_Frame_Shift_Del_p.PVYYS715fs|R3HDM1_ENST00000409606.1_Frame_Shift_Del_p.PVYYS771fs|R3HDM1_ENST00000329971.3_Frame_Shift_Del_p.PVYYS641fs|R3HDM1_ENST00000409478.1_Frame_Shift_Del_p.PVYYS642fs	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	770							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)		CAACAGGAATGCCTGTTTACTATAGTGTCATTCC	0.416																																																	0								ENSG00000048991																																			R3HDM1	SO:0001589	frameshift_variant	0				HGNC	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.2307_2320delGCCTGTTTACTATA	2.37:g.136437847_136437860delGCCTGTTTACTATA	ENSP00000264160:p.Pro770fs	Somatic					0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Frame_Shift_Del	DEL							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P770fs	ENST00000264160.4	37	c.2307_2320	CCDS2177.1	2																																																																																			-	NULL		0.416	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	GCCTGTTTACTATA	NM_015361			136437860	1	no_errors	ENST00000264160	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	136437860	GCCTGTTTACTATA	-	136437847	7	5	115	1	0	1	0	1	0	0	0	0	12895	1319	46	0	2377	0	R3HDM1	2	136437847	Frame_Shift_Del	DEL	GCCTGTTTACTATA	TCGA-DX-AB2H-01A-11D-A38Z-09	37425403	136437847	106761526	8	8653											
ACVR1	90	genome.wustl.edu	37	chr2	158634770	158634770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaactcccagcaggcagGctaaaagacatactgcgaac	10	12	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:158634770G>T	ENST00000263640.3	-	5	845	c.416C>A	c.(415-417)gCc>gAc	p.A139D	ACVR1_ENST00000410057.2_Missense_Mutation_p.A139D|ACVR1_ENST00000409283.2_Missense_Mutation_p.A139D|ACVR1_ENST00000434821.1_Missense_Mutation_p.A139D|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	139					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAGCAGGCAGGCTAAAAGACA	0.498																																																	0								ENSG00000115170						103	103	103					2																	158634770		2203	4300	6503	ACVR1	SO:0001583	missense	0			-	HGNC		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.416C>A	2.37:g.158634770G>T	ENSP00000263640:p.Ala139Asp	Somatic	0	57	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.A139D	ENST00000263640.3	37	c.416	CCDS2206.1	2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785262	0.49997	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.95	3.91	0.45181	.	0.231983	0.44097	D	0.000489	T	0.70002	0.3174	N	0.08118	0	0.46416	D	0.999037	B	0.32101	0.356	B	0.32090	0.14	T	0.68454	-0.5404	10	0.51188	T	0.08	.	3.8773	0.09062	0.1904:0.2321:0.5775:0.0	.	139	Q04771	ACVR1_HUMAN	D	139	ENSP00000263640:A139D;ENSP00000387273:A139D;ENSP00000405004:A139D;ENSP00000387127:A139D	ENSP00000263640:A139D	A	-	2	0	ACVR1	158343016	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.957000	0.49137	2.825000	0.97269	0.655000	0.94253	GCC	-	NULL		0.498	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	protein_coding	OTTHUMT00000254927.1	G	NM_001105	-		158634770	-1	no_errors	ENST00000263640	ensembl	human	known	74_37	missense	SNP	0.980	T	T	158634770	G	T	158634770	3	4	115	1	0	0	0	0	1	0	0	0	220	1203	42	3	1141	3	ACVR1	2	158634770	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	22196923	158634770	84564603	9	8654											
TTN	7273	genome.wustl.edu	37	chr2	179427807	179427807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgcacgcagaacgacCacctttctgagatcagcatc	8	14	2	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:179427807C>T	ENST00000591111.1	-	276	78353	c.78129G>A	c.(78127-78129)gtG>gtA	p.V26043V	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V27684V|TTN_ENST00000460472.2_Silent_p.V18619V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V18811V|TTN_ENST00000342992.6_Silent_p.V25116V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V18744V			Q8WZ42	TITIN_HUMAN	titin	26043	Ig-like 126.				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)			GCAGAACGACCACCTTTCTGA	0.483																																																	0								ENSG00000155657						187	183	185					2																	179427807		1952	4148	6100	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.78129G>A	2.37:g.179427807C>T		Somatic	0	57	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	20	62.96	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V25116	ENST00000591111.1	37	c.75348		2																																																																																			-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179427807	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.295	T	T	179427807	C	T	179427807	2	4	115	1	0	0	0	0	0	0	0	1	16742	581	21	2		2	TTN	2	179427807	Silent	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	20793037	179427807	63771566	10	8655											
COL4A3	1285	genome.wustl.edu	37	chr2	228122337	228122337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggacagaaaggggacattGgccctccaggatttcgtggt	15	8	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:228122337G>T	ENST00000396578.3	+	18	1168	c.1006G>T	c.(1006-1008)Ggc>Tgc	p.G336C	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	336	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGGGACATTGGCCCTCCAGG	0.353																																																	0								ENSG00000169031						144	135	138					2																	228122337		1861	4090	5951	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1006G>T	2.37:g.228122337G>T	ENSP00000379823:p.Gly336Cys	Somatic	0	109	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	6	89.29	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G336C	ENST00000396578.3	37	c.1006	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126521	0.56721	.	.	ENSG00000169031	ENST00000396578	D	0.99637	-6.29	5.96	5.96	0.96718	.	.	.	.	.	D	0.99789	0.9911	H	0.97291	3.975	0.47994	D	0.999567	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.988;0.988;0.993	D	0.97222	0.9878	9	0.87932	D	0	.	15.9124	0.79482	0.0:0.0:1.0:0.0	.	336;336;336;336	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	C	336	ENSP00000379823:G336C	ENSP00000379823:G336C	G	+	1	0	COL4A3	227830581	1.000000	0.71417	0.969000	0.41365	0.386000	0.30323	5.591000	0.67536	2.824000	0.97209	0.655000	0.94253	GGC	-	pfam_Collagen		0.353	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	G	NM_000091	-		228122337	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.988	T	T	228122337	G	T	228122337	3	4	115	1	0	0	0	0	1	0	0	0	3693	1348	47	3	1076	3	COL4A3	2	228122337	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	48694530	228122337	15077036	11	8656											
ITPR1	3708	genome.wustl.edu	37	chr3	4853082	4853082	+	Frame_Shift_Del	DEL	T	T	-													gttctcaatagtgggctatcTtttcttcaaggatgacttta							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:4853082delT	ENST00000443694.2	+	53	7361	c.7361delT	c.(7360-7362)cttfs	p.L2454fs	ITPR1_ENST00000456211.2_Frame_Shift_Del_p.L2406fs|ITPR1_ENST00000544951.1_Frame_Shift_Del_p.L432fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.L2421fs|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.L2454fs|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.L2454fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.L2421fs|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_5'Flank			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2469					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)	GTGGGCTATCTTTTCTTCAAG	0.428																																																	0								ENSG00000150995						141	141	141					3																	4853082		1965	4147	6112	ITPR1	SO:0001589	frameshift_variant	0				HGNC	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.7361delT	3.37:g.4853082delT	ENSP00000401671:p.Leu2454fs	Somatic	0	92	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	59	41.00	E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F2455fs	ENST00000443694.2	37	c.7361	CCDS54551.1	3																																																																																			-	pfam_Ion_trans_dom		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	T	NM_002222			4853082	1	no_errors	ENST00000302640	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	4853082	T	-	4853082	7	5	115	1	0	1	0	1	0	0	0	0	7922	1609	56	0	7620	0	ITPR1	3	4853082	Frame_Shift_Del	DEL	T	TCGA-DX-AB2H-01A-11D-A38Z-09		4853082	193169348	12	8657											
FEZF2	55079	genome.wustl.edu	37	chr3	62358026	62358026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcggtcgagtccaggtagTtgaagtagtagagcgagccg	16	8	0	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:62358026T>C	ENST00000283268.3	-	2	812	c.518A>G	c.(517-519)aAc>aGc	p.N173S	FEZF2_ENST00000475839.1_Missense_Mutation_p.N173S|FEZF2_ENST00000486811.1_Missense_Mutation_p.N173S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	173					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)		GTCCAGGTAGTTGAAGTAGTA	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0								ENSG00000153266						16	23	20					3																	62358026		2202	4283	6485	FEZF2	SO:0001583	missense	0			-	HGNC	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.518A>G	3.37:g.62358026T>C	ENSP00000283268:p.Asn173Ser	Somatic	0	44	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N173S	ENST00000283268.3	37	c.518	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150282	0.57151	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08634	3.07;3.07;3.07	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	M	0.72894	2.215	0.58432	D	0.999998	B	0.19583	0.037	B	0.15870	0.014	T	0.01553	-1.1326	10	0.66056	D	0.02	-21.4248	14.6274	0.68632	0.0:0.0:0.0:1.0	.	173	Q8TBJ5	FEZF2_HUMAN	S	173	ENSP00000418589:N173S;ENSP00000283268:N173S;ENSP00000418804:N173S	ENSP00000283268:N173S	N	-	2	0	FEZF2	62333066	.	.	1.000000	0.80357	0.997000	0.91878	.	.	1.953000	0.56701	0.454000	0.30748	AAC	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	protein_coding	OTTHUMT00000351813.1	T	NM_018008	-		62358026	-1	no_errors	ENST00000283268	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62358026	T	C	62358026	3	2	115	1	0	0	0	0	1	0	0	0	5828	1725	60	5	877	5	FEZF2	3	62358026	Missense_Mutation	SNP	T	TCGA-DX-AB2H-01A-11D-A38Z-09	57504944	62358026	135664404	13	8658											
SLC35A5	55032	genome.wustl.edu	37	chr3	112300122	112300122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccggaatacgcacctagGcaagaaaggatccgagatct	11	10	1	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:112300122G>A	ENST00000492406.1	+	6	1441	c.1158G>A	c.(1156-1158)agG>agA	p.R386R	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	386					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						ACGCACCTAGGCAAGAAAGGA	0.453																																																	0								ENSG00000138459						46	51	49					3																	112300122		2188	4251	6439	SLC35A5	SO:0001819	synonymous_variant	0			-	HGNC	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1158G>A	3.37:g.112300122G>A		Somatic	0	48	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP							pfam_Nuc_sug_transpt,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom	p.G229D	ENST00000492406.1	37	c.686	CCDS2967.1	3																																																																																			-	NULL		0.453	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	protein_coding	OTTHUMT00000354184.1	G	NM_017945	-		112300122	1	no_errors	ENST00000261034	ensembl	human	known	74_37	missense	SNP	0.792	A	A	112300122	G	A	112300122	2	1	115	1	0	0	0	0	0	0	0	1	14582	1194	42	2		2	SLC35A5	3	112300122	Silent	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	49942096	112300122	85722308	14	8659											
SORCS2	57537	genome.wustl.edu	37	chr4	7640055	7640055	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacccgctttgtgtttcagGtcatccttgtcagctcctca	7	14	4	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:7640055G>T	ENST00000507866.2	+	4	758	c.649G>T	c.(649-651)Gtc>Ttc	p.V217F	SORCS2_ENST00000329016.9_Splice_Site_p.V45F|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	217					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGTTTCAGGTCATCCTTGT	0.612																																																	0								ENSG00000184985						110	112	111					4																	7640055		2078	4210	6288	SORCS2	SO:0001630	splice_region_variant	0			-	HGNC	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.649-1G>T	4.37:g.7640055G>T		Somatic	0	48	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q9P2L7	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.V217F	ENST00000507866.2	37	c.649	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912354	0.17907	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.35236	1.32;1.32	4.28	1.81	0.25067	VPS10 (1);	1.116690	0.06882	N	0.802791	T	0.29749	0.0743	L	0.43152	1.355	0.80722	D	1	B;B	0.15930	0.003;0.015	B;B	0.11329	0.004;0.006	T	0.05419	-1.0886	9	.	.	.	.	6.9107	0.24333	0.8048:0.0:0.1952:0.0	.	45;217	B5MED8;Q96PQ0	.;SORC2_HUMAN	F	217;45	ENSP00000422185:V217F;ENSP00000329124:V45F	.	V	+	1	0	SORCS2	7690955	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	3.538000	0.53597	0.088000	0.17205	-0.471000	0.05019	GTC	-	smart_VPS10		0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	protein_coding	OTTHUMT00000358685.4	G	NM_020777	-	Missense_Mutation	7640055	1	no_errors	ENST00000507866	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7640055	G	T	7640055	5	4	115	1	0	0	0	0	0	0	1	0	14939	1275	44	3	663	3	SORCS2	4	7640055	Splice_Site	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		7640055	183514221	15	8660											
PCDH7	5099	genome.wustl.edu	37	chr4	30725638	30725638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccactcacccaggataTagctggtgacccaagctatg	8	14	1	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:30725638T>C	ENST00000361762.2	+	1	3602	c.2594T>C	c.(2593-2595)aTa>aCa	p.I865T	PCDH7_ENST00000543491.1_Missense_Mutation_p.I865T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	865					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACCCAGGATATAGCTGGTGAC	0.433																																																	0								ENSG00000169851						90	89	89					4																	30725638		2203	4300	6503	PCDH7	SO:0001583	missense	0			-	HGNC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2594T>C	4.37:g.30725638T>C	ENSP00000355243:p.Ile865Thr	Somatic	0	37	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	O60246|O60247|Q4W5C4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I865T	ENST00000361762.2	37	c.2594	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722216	0.48728	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.39592	1.07;1.07	4.96	4.96	0.65561	Protocadherin (1);	.	.	.	.	T	0.59998	0.2235	L	0.56769	1.78	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.59423	-0.7457	9	0.41790	T	0.15	.	14.7983	0.69894	0.0:0.0:0.0:1.0	.	865;818;865	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	T	865;865;818	ENSP00000355243:I865T;ENSP00000441802:I865T	ENSP00000330302:I818T	I	+	2	0	PCDH7	30334736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.084000	0.62774	0.533000	0.62120	ATA	-	pfam_Protocadherin		0.433	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	protein_coding	OTTHUMT00000360366.1	T	NM_032457, NM_002589	-		30725638	1	no_errors	ENST00000543491	ensembl	human	known	74_37	missense	SNP	1.000	C	C	30725638	T	C	30725638	3	2	115	1	0	0	0	0	1	0	0	0	11518	1406	49	5	2596	5	PCDH7	4	30725638	Missense_Mutation	SNP	T	TCGA-DX-AB2H-01A-11D-A38Z-09	23085583	30725638	160428638	16	8661											
SLC4A4	8671	genome.wustl.edu	37	chr4	72332163	72332163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattttctttattttagggCgtgttggagagtttcctggg	12	4	1	1	rs373128647		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:72332163C>T	ENST00000264485.5	+	13	1617	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	SLC4A4_ENST00000512686.1_Silent_p.G456G|SLC4A4_ENST00000425175.1_Silent_p.G500G|SLC4A4_ENST00000351898.6_Silent_p.G500G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Silent_p.G456G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	500					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.G500G(1)|p.G456G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TATTTTAGGGCGTGTTGGAGA	0.413																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000080493	C	,,	0,4406		0,0,2203	161	157	158		1500,1500,1368	-2.5	1	4		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A4	NM_001098484.2,NM_001134742.1,NM_003759.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	500/1080,500/1095,456/1036	72332163	1,13005	2203	4300	6503	SLC4A4	SO:0001819	synonymous_variant	0			-	HGNC	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1500C>T	4.37:g.72332163C>T		Somatic	0	79	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	41	35.94	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.G500	ENST00000264485.5	37	c.1500	CCDS43236.1	4																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	protein_coding	OTTHUMT00000362090.1	C	NM_003759	-		72332163	1	no_errors	ENST00000425175	ensembl	human	known	74_37	silent	SNP	0.754	T	T	72332163	C	T	72332163	2	4	115	1	0	0	0	0	0	0	0	1	14664	755	27	1		1	SLC4A4	4	72332163	Silent	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	41606525	72332163	118822113	17	8662											
FNIP2	57600	genome.wustl.edu	37	chr4	159790439	159790439	+	Frame_Shift_Del	DEL	A	A	-													gaaggccaacttcaggactgAaggagacattccccgaaatg							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:159790439delA	ENST00000264433.6	+	13	2726	c.2651delA	c.(2650-2652)gaafs	p.E884fs	FNIP2_ENST00000379346.3_Frame_Shift_Del_p.E907fs	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	884	Interaction with PRKAA1.				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)		TTCAGGACTGAAGGAGACATT	0.597																																																	0								ENSG00000052795						29	32	31					4																	159790439		2074	4208	6282	FNIP2	SO:0001589	frameshift_variant	0				HGNC	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.2651delA	4.37:g.159790439delA	ENSP00000264433:p.Glu884fs	Somatic	0	48	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q05DC3|Q96I31|Q9H994	Frame_Shift_Del	DEL							NULL	p.G908fs	ENST00000264433.6	37	c.2720	CCDS47155.1	4																																																																																			-	NULL		0.597	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	protein_coding	OTTHUMT00000366602.1	A	NM_020840			159790439	1	no_errors	ENST00000379346	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	159790439	A	-	159790439	7	5	115	1	0	1	0	1	0	0	0	0	5978	246	9	0	2701	0	FNIP2	4	159790439	Frame_Shift_Del	DEL	A	TCGA-DX-AB2H-01A-11D-A38Z-09	87458276	159790439	31363837	18	8663											
C6	729	genome.wustl.edu	37	chr5	41195968	41195968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctttgtcctcccacagtcCctttcatctgaattgtctcc	5	16	3	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr5:41195968C>G	ENST00000263413.3	-	5	777	c.513G>C	c.(511-513)agG>agC	p.R171S	C6_ENST00000337836.5_Missense_Mutation_p.R171S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	171	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCCACAGTCCCTTTCATCTG	0.423																																																	0								ENSG00000039537						251	221	231					5																	41195968		2203	4300	6503	C6	SO:0001583	missense	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.513G>C	5.37:g.41195968C>G	ENSP00000263413:p.Arg171Ser	Somatic	0	78	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	41	46.75		Missense_Mutation	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.R171S	ENST00000263413.3	37	c.513	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227587	0.58668	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.95238	-3.65;-3.65	5.65	3.86	0.44501	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.080957	0.85682	D	0.000000	D	0.94272	0.8160	L	0.41236	1.265	0.43207	D	0.995061	D	0.62365	0.991	D	0.63957	0.92	D	0.92148	0.5726	10	0.38643	T	0.18	-11.8919	9.6617	0.39958	0.0:0.7708:0.0:0.2292	.	171	P13671	CO6_HUMAN	S	171	ENSP00000338861:R171S;ENSP00000263413:R171S	ENSP00000263413:R171S	R	-	3	2	C6	41231725	0.352000	0.24895	0.648000	0.29521	0.828000	0.46876	0.809000	0.27168	0.729000	0.32403	-0.142000	0.14014	AGG	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	C		-		41195968	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	SNP	0.622	G	G	41195968	C	G	41195968	3	3	115	1	0	0	0	0	1	0	0	0	2317	622	22	4	2347	4	C6	5	41195968	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		41195968	139719292	19	8664											
PCDHA6	56142	genome.wustl.edu	37	chr5	140208442	140208442	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taagaatattcgaaaatgcaGacaacggaacaacagttatc	7	7	0	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr5:140208442G>C	ENST00000529310.1	+	1	880	c.766G>C	c.(766-768)Gac>Cac	p.D256H	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D256H	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	256	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)			CGAAAATGCAGACAACGGAAC	0.438																																																	0								ENSG00000081842						90	85	87					5																	140208442		2203	4300	6503	PCDHA6	SO:0001583	missense	0			-	HGNC	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.766G>C	5.37:g.140208442G>C	ENSP00000433378:p.Asp256His	Somatic	0	92	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	58	43.81	O75283|Q9NRT8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D256H	ENST00000529310.1	37	c.766	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	1.731	-0.494228	0.04322	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01887	4.58;4.58	3.7	1.65	0.23941	Cadherin (4);Cadherin-like (1);	1.513640	0.05183	U	0.501775	T	0.04318	0.0119	L	0.58510	1.815	0.09310	N	1	B;B;B	0.13594	0.004;0.008;0.001	B;B;B	0.22601	0.004;0.04;0.001	T	0.42749	-0.9433	10	0.87932	D	0	.	8.4005	0.32583	0.0:0.1444:0.572:0.2836	.	256;256;256	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	H	256	ENSP00000433378:D256H;ENSP00000434113:D256H	ENSP00000434113:D256H	D	+	1	0	PCDHA6	140188626	0.000000	0.05858	0.006000	0.13384	0.273000	0.26683	-0.715000	0.04997	0.861000	0.35504	0.313000	0.20887	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.438	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	G	NM_018909	-		140208442	1	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	SNP	0.000	C	C	140208442	G	C	140208442	3	2	115	1	0	0	0	0	1	0	0	0	11530	942	33	4	768	4	PCDHA6	5	140208442	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	99012474	140208442	40706818	20	8665											
TMEM217	221468	genome.wustl.edu	37	chr6	37186252	37186252	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtgagccactgaacccactCgaaattgataatcttttatt	6	9	1	3			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr6:37186252C>A	ENST00000336655.2	-	2	594	c.555G>T	c.(553-555)tcG>tcT	p.S185S	TMEM217_ENST00000356757.2_Silent_p.S185S|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	185						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						tgaacccACTCGAAATTGATA	0.478																																																	0								ENSG00000172738						52	55	54					6																	37186252		2203	4299	6502	TMEM217	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.555G>T	6.37:g.37186252C>A		Somatic	0	40	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	24	54.72	Q8TC54	Silent	SNP							NULL	p.S185	ENST00000336655.2	37	c.555	CCDS4831.1	6																																																																																			-	NULL		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	protein_coding	OTTHUMT00000357542.1	C	NM_145316	-		37186252	-1	no_errors	ENST00000336655	ensembl	human	known	74_37	silent	SNP	0.001	A	A	37186252	C	A	37186252	2	1	115	1	0	0	0	0	0	0	0	1	16147	871	31	3		3	TMEM217	6	37186252	Silent	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		37186252	133928815	21	8666											
ENPP5	59084	genome.wustl.edu	37	chr6	46135503	46135503	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attcaataattttggcaactCtatcttcaaatgaaactgac	4	8	4	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr6:46135503C>G	ENST00000371383.2	-	3	757	c.497G>C	c.(496-498)aGa>aCa	p.R166T	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.R166T					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTTGGCAACTCTATCTTCAAA	0.423																																																	0								ENSG00000112796						99	110	106					6																	46135503		2203	4300	6503	ENPP5	SO:0001583	missense	0			-	HGNC	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.497G>C	6.37:g.46135503C>G	ENSP00000360436:p.Arg166Thr	Somatic	0	32	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24		Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R166T	ENST00000371383.2	37	c.497	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497789	0.85069	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.74421	-0.84;-0.84	5.33	5.33	0.75918	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.96889	3.9	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93347	0.6715	10	0.87932	D	0	-23.681	19.4129	0.94683	0.0:1.0:0.0:0.0	.	166;166	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	T	166	ENSP00000360436:R166T;ENSP00000230565:R166T	ENSP00000230565:R166T	R	-	2	0	ENPP5	46243462	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.409000	0.80053	2.652000	0.90054	0.655000	0.94253	AGA	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.423	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	protein_coding	OTTHUMT00000040779.2	C		-		46135503	-1	no_errors	ENST00000230565	ensembl	human	known	74_37	missense	SNP	1.000	G	G	46135503	C	G	46135503	3	3	115	1	0	0	0	0	1	0	0	0	5135	913	32	4	948	4	ENPP5	6	46135503	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	8949251	46135503	124979564	22	8667											
GLCCI1	113263	genome.wustl.edu	37	chr7	8099753	8099753	+	Missense_Mutation	SNP	C	C	A													gatcaaggtcagttcctatgCcactgtcaaatatatcagtg							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:8099753C>A	ENST00000223145.5	+	5	1398	c.841C>A	c.(841-843)Cca>Aca	p.P281T	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	281						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGTTCCTATGCCACTGTCAAA	0.358																																																	0								ENSG00000106415						128	118	122					7																	8099753		2203	4300	6503	GLCCI1	SO:0001583	missense	0			-	HGNC	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.841C>A	7.37:g.8099753C>A	ENSP00000223145:p.Pro281Thr	Somatic	0	91	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	77	41.22	A4D103|Q96FD0	Missense_Mutation	SNP							NULL	p.P281T	ENST00000223145.5	37	c.841	CCDS34601.1	7	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897540	0.91962	.	.	ENSG00000106415	ENST00000223145;ENST00000414914	.	.	.	5.14	5.14	0.70334	.	0.159595	0.56097	D	0.000030	T	0.77671	0.4165	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.78663	-0.2116	9	0.66056	D	0.02	-29.1835	19.5458	0.95297	0.0:1.0:0.0:0.0	.	281	Q86VQ1	GLCI1_HUMAN	T	281;139	.	ENSP00000223145:P281T	P	+	1	0	GLCCI1	8066278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.817000	0.75252	2.788000	0.95919	0.585000	0.79938	CCA	-	NULL		0.358	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	protein_coding	OTTHUMT00000324672.1	C	NM_138426	-		8099753	1	no_errors	ENST00000223145	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8099753	C	A	8099753	3	1	115	1	0	0	0	0	1	0	0	0	6433	739	26	3	859	3	GLCCI1	7	8099753	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		8099753	151038910	23	8668	154	2									
GLCCI1	113263	genome.wustl.edu	37	chr7	8099754	8099754	+	Missense_Mutation	SNP	C	C	A													atcaaggtcagttcctatgcCactgtcaaatatatcagtgc							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:8099754C>A	ENST00000223145.5	+	5	1399	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	281						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GTTCCTATGCCACTGTCAAAT	0.358																																																	0								ENSG00000106415						129	119	122					7																	8099754		2203	4300	6503	GLCCI1	SO:0001583	missense	0			-	HGNC	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.842C>A	7.37:g.8099754C>A	ENSP00000223145:p.Pro281Gln	Somatic	0	92	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	78	41.79	A4D103|Q96FD0	Missense_Mutation	SNP							NULL	p.P281Q	ENST00000223145.5	37	c.842	CCDS34601.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233501	0.79688	.	.	ENSG00000106415	ENST00000223145;ENST00000414914	.	.	.	5.14	5.14	0.70334	.	0.159595	0.56097	D	0.000030	T	0.72669	0.3489	M	0.64170	1.965	0.58432	D	0.999999	D	0.56521	0.976	P	0.54060	0.741	T	0.74957	-0.3487	9	0.62326	D	0.03	-29.1835	19.5458	0.95297	0.0:1.0:0.0:0.0	.	281	Q86VQ1	GLCI1_HUMAN	Q	281;139	.	ENSP00000223145:P281Q	P	+	2	0	GLCCI1	8066279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.081000	0.64444	2.788000	0.95919	0.585000	0.79938	CCA	-	NULL		0.358	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	protein_coding	OTTHUMT00000324672.1	C	NM_138426	-		8099754	1	no_errors	ENST00000223145	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8099754	C	A	8099754	3	1	115	1	0	0	0	0	1	0	0	0	6433	594	21	3	860	3	GLCCI1	7	8099754	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	1	8099754	151038909	24	8669	154	2									
CALCR	799	genome.wustl.edu	37	chr7	93055785	93055785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtaaattgggatgtcGccagcctccgcagcagcggc	13	12	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:93055785G>A	ENST00000394441.1	-	13	1623	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	CALCR_ENST00000426151.1_Silent_p.G436G|CALCR_ENST00000359558.2_Silent_p.G470G|CALCR_ENST00000360249.4_Silent_p.G452G|CALCR_ENST00000421592.1_Silent_p.G452G	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	470					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGGGATGTCGCCAGCCTCCG	0.572																																																	0								ENSG00000004948						110	109	109					7																	93055785		2203	4300	6503	CALCR	SO:0001819	synonymous_variant	0			-	HGNC	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1308C>T	7.37:g.93055785G>A		Somatic	0	35	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.G470	ENST00000394441.1	37	c.1410	CCDS5631.1	7																																																																																			-	prints_GPCR_2_calcitonin_rcpt		0.572	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	G	NM_001742	-		93055785	-1	no_errors	ENST00000359558	ensembl	human	known	74_37	silent	SNP	0.000	A	A	93055785	G	A	93055785	2	1	115	1	0	0	0	0	0	0	0	1	2581	1074	38	1		1	CALCR	7	93055785	Silent	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	84956031	93055785	66082878	25	8670											
MCM7	4176	genome.wustl.edu	37	chr7	99695466	99695466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccctcacctgcaatttGcctcagctcctccctggtga	7	18	2	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:99695466G>T	ENST00000303887.5	-	8	1621	c.976C>A	c.(976-978)Caa>Aaa	p.Q326K	MCM7_ENST00000354230.3_Missense_Mutation_p.Q150K|MCM7_ENST00000343023.6_Missense_Mutation_p.Q326K	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	326					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGCAATTTGCCTCAGCTCC	0.502																																																	0								ENSG00000166508						135	125	129					7																	99695466		2203	4300	6503	MCM7	SO:0001583	missense	0			-	HGNC		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.976C>A	7.37:g.99695466G>T	ENSP00000307288:p.Gln326Lys	Somatic	0	63	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP							pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4	p.Q326K	ENST00000303887.5	37	c.976	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087420	0.20390	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T;T	0.09445	2.98;3.44;3.44	4.7	4.7	0.59300	.	0.547830	0.19842	N	0.104826	T	0.07908	0.0198	N	0.17278	0.47	0.39046	D	0.96023	B	0.12630	0.006	B	0.19666	0.026	T	0.31779	-0.9931	10	0.18276	T	0.48	-11.2198	15.2095	0.73209	0.0:0.0:1.0:0.0	.	326	P33993	MCM7_HUMAN	K	326;326;263;219;150	ENSP00000344006:Q326K;ENSP00000307288:Q326K;ENSP00000346171:Q150K	ENSP00000307288:Q326K	Q	-	1	0	MCM7	99533402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.333000	0.65917	2.453000	0.82957	0.561000	0.74099	CAA	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	protein_coding	OTTHUMT00000336534.3	G		-		99695466	-1	no_errors	ENST00000303887	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99695466	G	T	99695466	3	4	115	1	0	0	0	0	1	0	0	0	9394	1328	46	3	1215	3	MCM7	7	99695466	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	6639681	99695466	59443197	26	8671											
HR	55806	genome.wustl.edu	37	chr8	21977962	21977965	+	Frame_Shift_Del	DEL	GCTT	GCTT	-													ggcctccaagtgccccaagaGcttctgtcccccacaggttg							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	GCTT	GCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr8:21977962_21977965delGCTT	ENST00000381418.4	-	12	4146_4149	c.2666_2669delAAGC	c.(2665-2670)gaagctfs	p.EA889fs	HR_ENST00000312841.8_Frame_Shift_Del_p.EA889fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	889					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGCCCCAAGAGCTTCTGTCCCCCA	0.632																																																	0								ENSG00000168453																																			HR	SO:0001589	frameshift_variant	0				HGNC	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2666_2669delAAGC	8.37:g.21977962_21977965delGCTT	ENSP00000370826:p.Glu889fs	Somatic	0	38	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Del	DEL							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E889fs	ENST00000381418.4	37	c.2669_2666	CCDS6022.1	8																																																																																			-	NULL		0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	protein_coding	OTTHUMT00000214213.1	GCTT				21977965	-1	no_errors	ENST00000381418	ensembl	human	known	74_37	frame_shift_del	DEL	0.757:0.809:0.811:0.884	-	-	21977965	GCTT	-	21977962	7	5	115	1	0	1	0	1	0	0	0	0	7349	971	34	0	932	0	HR	8	21977962	Frame_Shift_Del	DEL	GCTT	TCGA-DX-AB2H-01A-11D-A38Z-09		21977962	124386060	27	8672											
LYNX1	66004	genome.wustl.edu	37	chr8	143846466	143846466	+	Frame_Shift_Del	DEL	T	T	-													ccacttacgggtggcagtggTgacacagtgggtggagtccc							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr8:143846466delT	ENST00000335822.5	-	4	874	c.247delA	c.(247-249)accfs	p.T84fs	LYNX1_ENST00000317543.7_Frame_Shift_Del_p.T50fs|LYNX1_ENST00000523332.1_3'UTR|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	84	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTGGCAGTGGTGACACAGTGG	0.627																																																	0								ENSG00000180155						63	47	52					8																	143846466		2203	4300	6503	LYNX1	SO:0001589	frameshift_variant	0				HGNC	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.247delA	8.37:g.143846466delT	ENSP00000337950:p.Thr84fs	Somatic	0	49	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	D3DWI7|G3XAC2|Q86SR0	Frame_Shift_Del	DEL							pfam_LY6_UPAR	p.T83fs	ENST00000335822.5	37	c.247	CCDS34951.1	8																																																																																			-	pfam_LY6_UPAR		0.627	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	protein_coding	OTTHUMT00000379786.3	T	NM_177476			143846466	-1	no_errors	ENST00000335822	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	143846466	T	-	143846466	7	5	115	1	0	1	0	1	0	0	0	0	9110	1696	59	0	156	0	LYNX1	8	143846466	Frame_Shift_Del	DEL	T	TCGA-DX-AB2H-01A-11D-A38Z-09	121868504	143846466	2517556	28	8673											
VPS13A	23230	genome.wustl.edu	37	chr9	79891096	79891096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacgatttgaaagcaaatgCctttttgaaagagttctgct	8	6	1	3			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:79891096C>A	ENST00000360280.3	+	26	3043	c.2783C>A	c.(2782-2784)gCc>gAc	p.A928D	VPS13A_ENST00000376636.3_Missense_Mutation_p.A928D|VPS13A_ENST00000376634.4_Missense_Mutation_p.A928D|VPS13A_ENST00000357409.5_Missense_Mutation_p.A928D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	928					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAGCAAATGCCTTTTTGAAA	0.318																																																	0								ENSG00000197969						88	89	88					9																	79891096		2203	4300	6503	VPS13A	SO:0001583	missense	0			-	HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2783C>A	9.37:g.79891096C>A	ENSP00000353422:p.Ala928Asp	Somatic	0	193	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	87	108	44.62	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A928D	ENST00000360280.3	37	c.2783	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073424	0.76415	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.04	5.13	0.70059	.	0.172300	0.51477	D	0.000087	T	0.37919	0.1021	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.76494	0.991;0.99;0.999;0.999	D;P;D;D	0.70016	0.937;0.761;0.967;0.967	T	0.09707	-1.0662	10	0.35671	T	0.21	.	9.5906	0.39543	0.0:0.7817:0.1438:0.0746	.	928;928;928;928	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	928	ENSP00000365821:A928D;ENSP00000365823:A928D;ENSP00000353422:A928D;ENSP00000349985:A928D	ENSP00000349985:A928D	A	+	2	0	VPS13A	79080916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.579000	0.46059	1.528000	0.49103	0.563000	0.77884	GCC	-	NULL		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	C	NM_015186	-		79891096	1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79891096	C	A	79891096	3	1	115	1	0	0	0	0	1	0	0	0	17196	739	26	3	2885	3	VPS13A	9	79891096	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		79891096	61322335	29	8674											
USP20	10868	genome.wustl.edu	37	chr9	132637674	132637674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctgctgcggttctacGtgtcccgcgagtggctcaac	12	15	2	0	rs368117192		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:132637674G>A	ENST00000315480.4	+	20	2292	c.2134G>A	c.(2134-2136)Gtg>Atg	p.V712M	USP20_ENST00000372429.3_Missense_Mutation_p.V712M|USP20_ENST00000358355.1_Missense_Mutation_p.V712M			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	712	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCGGTTCTACGTGTCCCGCGA	0.667																																																	0								ENSG00000136878	G	MET/VAL,MET/VAL,MET/VAL	2,4138		0,2,2068	38	47	44		2134,2134,2134	4.3	1	9		44	0,8418		0,0,4209	no	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	21,21,21	0,2,6277	AA,AG,GG		0.0,0.0483,0.0159	possibly-damaging,possibly-damaging,possibly-damaging	712/915,712/915,712/915	132637674	2,12556	2070	4209	6279	USP20	SO:0001583	missense	0			-	HGNC	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2134G>A	9.37:g.132637674G>A	ENSP00000313811:p.Val712Met	Somatic	0	69	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	22	50.00	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.V712M	ENST00000315480.4	37	c.2134	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375539	0.61735	4.83E-4	0.0	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.23552	1.9;1.9;1.9	5.33	4.32	0.51571	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.268996	0.35378	N	0.003257	T	0.22399	0.0540	M	0.64170	1.965	0.47476	D	0.999433	P	0.43662	0.814	B	0.36719	0.231	T	0.04811	-1.0925	10	0.87932	D	0	.	6.6632	0.23027	0.2745:0.0:0.7255:0.0	.	712	Q9Y2K6	UBP20_HUMAN	M	712	ENSP00000361506:V712M;ENSP00000313811:V712M;ENSP00000351122:V712M	ENSP00000313811:V712M	V	+	1	0	USP20	131677495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.114000	0.71560	2.495000	0.84180	0.561000	0.74099	GTG	-	smart_Pept_C19_DUSP		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	protein_coding	OTTHUMT00000054604.2	G		-		132637674	1	no_errors	ENST00000315480	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132637674	G	A	132637674	3	1	115	1	0	0	0	0	1	0	0	0	17059	1145	40	1	2204	1	USP20	9	132637674	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	52746578	132637674	8575757	30	8675											
KCNT1	57582	genome.wustl.edu	37	chr9	138662218	138662218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgaggtgtaccacatccGcatgggtgacagcaagttct	11	11	1	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:138662218G>A	ENST00000263604.3	+	17	1637	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	KCNT1_ENST00000298480.5_Missense_Mutation_p.R565H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R565H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R546H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R520H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R526H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R546H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R532H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	546	RCK N-terminal.				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)		TACCACATCCGCATGGGTGAC	0.652																																																	0								ENSG00000107147						104	81	89					9																	138662218		2203	4300	6503	KCNT1	SO:0001583	missense	0			-	HGNC	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.1637G>A	9.37:g.138662218G>A	ENSP00000263604:p.Arg546His	Somatic	0	53	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R565H	ENST00000263604.3	37	c.1694		9	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273568	0.59649	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.48	3.5	0.40072	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.57536	1.79	0.80722	D	1	P;D;P;B	0.55172	0.888;0.97;0.838;0.416	B;P;B;B	0.54372	0.363;0.75;0.248;0.189	T	0.36817	-0.9732	10	0.15066	T	0.55	-32.4157	12.2319	0.54492	0.0:0.0:0.8293:0.1707	.	532;565;520;546	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	520;565;565;526;532;546;546;546	ENSP00000417851:R520H;ENSP00000298480:R565H;ENSP00000360822:R565H;ENSP00000263604:R546H	ENSP00000263604:R546H	R	+	2	0	KCNT1	137802039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.557000	0.60782	2.043000	0.60533	0.585000	0.79938	CGC	-	pfam_K_chnl_Ca-activ_BK_asu		0.652	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	protein_coding		G	NM_020822	-		138662218	1	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138662218	G	A	138662218	3	1	115	1	0	0	0	0	1	0	0	0	8093	1087	38	1	1760	1	KCNT1	9	138662218	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	6024544	138662218	2551213	31	8676											
C9orf167	54863	genome.wustl.edu	37	chr9	140174330	140174330	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcggagaacctggccgcgCagctcagcttctaccgcgtg	14	15	2	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:140174330C>T	ENST00000357503.2	+	2	1385	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	397					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										CCTGGCCGCGCAGCTCAGCTT	0.672																																																	0								ENSG00000198113						10	12	11					9																	140174330		2178	4284	6462	TOR4A	SO:0001587	stop_gained	0			-	HGNC	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.1189C>T	9.37:g.140174330C>T	ENSP00000350102:p.Gln397*	Somatic	0	17	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A2BFA4	Nonsense_Mutation	SNP							pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q397*	ENST00000357503.2	37	c.1189	CCDS7041.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.845381	0.97016	.	.	ENSG00000198113	ENST00000357503	.	.	.	4.68	4.68	0.58851	.	0.058003	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.4681	16.1331	0.81458	0.0:1.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000350102:Q397X	Q	+	1	0	C9orf167	139294151	1.000000	0.71417	0.920000	0.36463	0.289000	0.27227	3.849000	0.55910	2.101000	0.63845	0.561000	0.74099	CAG	-	NULL		0.672	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	protein_coding	OTTHUMT00000254711.1	C	NM_017723	-		140174330	1	no_errors	ENST00000357503	ensembl	human	known	74_37	nonsense	SNP	0.994	T	T	140174330	C	T	140174330	4	4	115	1	0	0	0	0	0	1	0	0	2470	711	25	2	1191	2	C9orf167	9	140174330	Nonsense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	1512112	140174330	1039101	32	8677											
PFKFB3	5209	genome.wustl.edu	37	chr10	6255641	6255641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcatggtgggcctcccCgcccggggcaagacctacat	12	15	1	1	rs146319524		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:6255641C>A	ENST00000379775.4	+	2	462	c.132C>A	c.(130-132)ccC>ccA	p.P44P	PFKFB3_ENST00000379782.3_Silent_p.P44P|PFKFB3_ENST00000360521.2_Silent_p.P44P|PFKFB3_ENST00000379789.4_Silent_p.P24P|PFKFB3_ENST00000540253.1_Silent_p.P58P|PFKFB3_ENST00000379785.1_Silent_p.P44P|PFKFB3_ENST00000536985.1_Silent_p.P24P|PFKFB3_ENST00000317350.4_Silent_p.P44P	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	44	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGGGCCTCCCCGCCCGGGGCA	0.597																																																	0								ENSG00000170525						156	132	140					10																	6255641		2203	4300	6503	PFKFB3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.132C>A	10.37:g.6255641C>A		Somatic	0	35	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP							pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.P58	ENST00000379775.4	37	c.174	CCDS7078.1	10																																																																																			-	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.597	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	protein_coding	OTTHUMT00000046647.1	C		-		6255641	1	no_errors	ENST00000540253	ensembl	human	known	74_37	silent	SNP	0.002	A	A	6255641	C	A	6255641	2	1	115	1	0	0	0	0	0	0	0	1	11764	639	23	3		3	PFKFB3	10	6255641	Silent	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		6255641	129279106	33	8678											
DUSP13	51207	genome.wustl.edu	37	chr10	76865463	76865463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcagttgctggtccagCctgcagagctggtgcaggaa	14	13	0	1	rs373934068		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:76865463C>T	ENST00000491677.2	-	3	585	c.43G>A	c.(43-45)Gct>Act	p.A15T	DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_Silent_p.R177R	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	0					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCTGGTCCAGCCTGCAGAGCT	0.677																																					NSCLC(174;1655 2059 12324 40663 42963)												0								ENSG00000079393	C	,,	0,4060		0,0,2030	9	13	12		531,,	3.9	1	10		12	1,8311		0,1,4155	no	coding-synonymous,intron,intron	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	,,	0,1,6185	TT,TC,CC		0.012,0.0,0.0081	,,	177/189,,	76865463	1,12371	2030	4156	6186	DUSP13	SO:0001583	missense	0			-	HGNC	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.43G>A	10.37:g.76865463C>T	ENSP00000436312:p.Ala15Thr	Somatic	0	48	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.A15T	ENST00000491677.2	37	c.43		10	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209533	0.58343	0.0	1.2E-4	ENSG00000079393	ENST00000491677	T	0.06218	3.33	4.81	3.9	0.45041	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02646	-1.1129	6	0.87932	D	0	.	4.2963	0.10902	0.1822:0.632:0.0:0.1858	.	.	.	.	T	15	ENSP00000436312:A15T	ENSP00000436312:A15T	A	-	1	0	DUSP13	76535469	0.001000	0.12720	1.000000	0.80357	0.957000	0.61999	-0.114000	0.10757	1.232000	0.43678	0.462000	0.41574	GCT	-	NULL		0.677	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	DUSP13	protein_coding		C		-		76865463	-1	no_errors	ENST00000491677	ensembl	human	known	74_37	missense	SNP	0.998	T	T	76865463	C	T	76865463	3	4	115	1	0	0	0	0	1	0	0	0	4815	738	26	2	935	2	DUSP13	10	76865463	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	70609822	76865463	58669284	34	8679											
DNTT	1791	genome.wustl.edu	37	chr10	98064414	98064414	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccgcagagcgttcctcatgGagctggcccgcaggaaaggg	15	13	1	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:98064414G>T	ENST00000371174.2	+	1	262	c.160G>T	c.(160-162)Gag>Tag	p.E54*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.E54*|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	54	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTTCCTCATGGAGCTGGCCCG	0.478																																																	0								ENSG00000107447						38	45	43					10																	98064414		2203	4300	6503	DNTT	SO:0001587	stop_gained	0			-	HGNC	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.160G>T	10.37:g.98064414G>T	ENSP00000360216:p.Glu54*	Somatic	0	31	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP							pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.E54*	ENST00000371174.2	37	c.160	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.929029	0.97940	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.9	5.9	0.94986	.	0.305262	0.39834	N	0.001246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-5.6016	17.776	0.88508	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000360216:E54X	E	+	1	0	DNTT	98054404	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.626000	0.61269	2.806000	0.96561	0.655000	0.94253	GAG	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu		0.478	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	protein_coding	OTTHUMT00000049607.1	G	NM_004088	-		98064414	1	no_errors	ENST00000371174	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	98064414	G	T	98064414	4	4	115	1	0	0	0	0	0	1	0	0	4682	1175	41	3	162	3	DNTT	10	98064414	Nonsense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	21198951	98064414	37470333	35	8680											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115608781	115608796	+	Frame_Shift_Del	DEL	CTCCTACATTAGATGA	CTCCTACATTAGATGA	-													acatgtcttttttcttgatcCtcctacattagatgactctg					rs539091187|rs550338406|rs571779693	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	CTCCTACATTAGATGA	CTCCTACATTAGATGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:115608781_115608796delCTCCTACATTAGATGA	ENST00000361384.2	-	2	2985_3000	c.2068_2083delTCATCTAATGTAGGAG	c.(2068-2085)tcatctaatgtaggaggafs	p.SSNVGG690fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.SSNVGG690fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	690					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTCTTGATCCTCCTACATTAGATGACTCTGGGATT	0.352								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000198924																																			DCLRE1A	SO:0001589	frameshift_variant	0				HGNC		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2068_2083delTCATCTAATGTAGGAG	10.37:g.115608781_115608796delCTCCTACATTAGATGA	ENSP00000355185:p.Ser690fs	Somatic					0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL							pfam_DRMBL	p.S690fs	ENST00000361384.2	37	c.2083_2068	CCDS7584.1	10																																																																																			-	NULL		0.352	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	protein_coding	OTTHUMT00000050444.1	CTCCTACATTAGATGA	NM_014881			115608796	-1	no_errors	ENST00000361384	ensembl	human	known	74_37	frame_shift_del	DEL	0.633:0.630:0.691:0.807:0.800:0.633:0.529:0.443:0.034:0.005:0.003:0.001:0.000:0.006:0.095:0.131	-	-	115608796	CTCCTACATTAGATGA	-	115608781	7	5	115	1	0	1	0	1	0	0	0	0	4296	690	24	0	1071	0	DCLRE1A	10	115608781	Frame_Shift_Del	DEL	CTCCTACATTAGATGA	TCGA-DX-AB2H-01A-11D-A38Z-09	17544367	115608781	19925966	36	8681											
MUC6	4588	genome.wustl.edu	37	chr11	1025278	1025278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgatgtccacgacaagGctcagcgcacccggcgtcac	11	15	2	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:1025278G>T	ENST00000421673.2	-	23	2939	c.2889C>A	c.(2887-2889)agC>agA	p.S963R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	963	VWFD 3. {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)		CCACGACAAGGCTCAGCGCAC	0.652																																																	0								ENSG00000184956						83	94	90					11																	1025278		2145	4231	6376	MUC6	SO:0001583	missense	0			-	HGNC	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.2889C>A	11.37:g.1025278G>T	ENSP00000406861:p.Ser963Arg	Somatic	0	37	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S963R	ENST00000421673.2	37	c.2889	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	4.222	0.039961	0.08148	.	.	ENSG00000184956	ENST00000421673	T	0.60424	0.19	4.34	1.31	0.21738	von Willebrand factor, type D domain (3);	1.008240	0.08011	U	0.990286	T	0.39989	0.1099	N	0.25426	0.745	0.09310	N	0.999998	P	0.43287	0.802	B	0.37601	0.254	T	0.17137	-1.0379	10	0.27082	T	0.32	.	7.3891	0.26899	0.2856:0.0:0.7144:0.0	.	963	Q6W4X9	MUC6_HUMAN	R	963	ENSP00000406861:S963R	ENSP00000406861:S963R	S	-	3	2	MUC6	1015278	0.994000	0.37717	0.011000	0.14972	0.005000	0.04900	1.040000	0.30278	0.387000	0.25024	0.556000	0.70494	AGC	-	pfam_VWF_type-D,smart_VWF_type-D		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	G	XM_290540	-		1025278	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	SNP	0.390	T	T	1025278	G	T	1025278	3	4	115	1	0	0	0	0	1	0	0	0	9982	1194	42	3	4474	3	MUC6	11	1025278	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		1025278	133981238	37	8682											
PDE3B	5140	genome.wustl.edu	37	chr11	14891166	14891166	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttacctcaagcagAtgagattcaggtaattgaag	8	9	2	3			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:14891166A>C	ENST00000282096.4	+	16	3652	c.3299A>C	c.(3298-3300)gAt>gCt	p.D1100A	PDE3B_ENST00000455098.2_Missense_Mutation_p.D1049A	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	1100					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CCTCAAGCAGATGAGATTCAG	0.428																																																	0								ENSG00000152270						100	100	100					11																	14891166		2200	4294	6494	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.3299A>C	11.37:g.14891166A>C	ENSP00000282096:p.Asp1100Ala	Somatic	0	63	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.D1100A	ENST00000282096.4	37	c.3299	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298419	0.60195	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.67171	-0.25;-0.17	6.03	4.87	0.63330	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.498735	0.21716	N	0.070186	T	0.65154	0.2664	M	0.72894	2.215	0.46356	D	0.999004	P;P	0.42871	0.792;0.657	B;B	0.37650	0.255;0.255	T	0.72228	-0.4354	10	0.72032	D	0.01	.	13.5498	0.61726	0.8707:0.1293:0.0:0.0	.	1049;1100	B7ZM37;Q13370	.;PDE3B_HUMAN	A	1100;1049	ENSP00000282096:D1100A;ENSP00000388644:D1049A	ENSP00000282096:D1100A	D	+	2	0	PDE3B	14847742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.135000	0.77276	2.313000	0.78055	0.455000	0.32223	GAT	-	NULL		0.428	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	A	NM_000922	-		14891166	1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	1.000	C	C	14891166	A	C	14891166	3	2	115	1	0	0	0	0	1	0	0	0	11640	333	12	5	3361	5	PDE3B	11	14891166	Missense_Mutation	SNP	A	TCGA-DX-AB2H-01A-11D-A38Z-09	13865888	14891166	120115350	38	8683											
TTC17	55761	genome.wustl.edu	37	chr11	43513714	43513714	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgtctacgtggcaatgGtgagatgggggtgtgagcag	18	5	1	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:43513714G>T	ENST00000039989.4	+	23	3308		c.e23+1			NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17						actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGTGGCAATGGTGAGATGGGG	0.483																																																	0								ENSG00000052841						188	145	159					11																	43513714		2203	4300	6503	TTC17	SO:0001630	splice_region_variant	0			-	HGNC	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3294+1G>T	11.37:g.43513714G>T		Somatic	0	32	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	G3XAB3|Q8NEC0	Splice_Site	SNP							-	e23+1	ENST00000039989.4	37	c.3294+1	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464934	0.43839	.	.	ENSG00000052841	ENST00000039989;ENST00000418561	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8183	0.88642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC17	43470290	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.496000	0.97967	2.631000	0.89168	0.655000	0.94253	.	-	-		0.483	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	protein_coding	OTTHUMT00000389577.2	G	NM_018259	-	Intron	43513714	1	no_errors	ENST00000039989	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	43513714	G	T	43513714	5	4	115	1	0	0	0	0	0	0	1	0	16691	1275	44	3	3385	3	TTC17	11	43513714	Splice_Site	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	28622548	43513714	91492802	39	8684											
DDB2	1643	genome.wustl.edu	37	chr11	47236754	47236754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattacgccccaggaacaagAggagcaggagtcccctggag	13	11	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:47236754A>G	ENST00000256996.4	+	1	262	c.67A>G	c.(67-69)Agg>Ggg	p.R23G	DDB2_ENST00000378601.3_Missense_Mutation_p.R23G|DDB2_ENST00000378600.3_Missense_Mutation_p.R23G|DDB2_ENST00000378603.3_Missense_Mutation_p.R23G	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	23					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CAGGAACAAGAGGAGCAGGAG	0.572			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0								ENSG00000134574						136	148	144					11																	47236754		2201	4298	6499	DDB2	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	-	HGNC		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.67A>G	11.37:g.47236754A>G	ENSP00000256996:p.Arg23Gly	Somatic	0	54	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	29	47.27	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R23G	ENST00000256996.4	37	c.67	CCDS7927.1	11	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907287	0.52333	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600;ENST00000378601	T;T;T;T	0.79749	-0.85;-0.47;-1.3;0.59	3.76	2.59	0.31030	.	0.288817	0.35772	N	0.002986	T	0.66458	0.2791	L	0.36672	1.1	0.28593	N	0.909547	B;P;B	0.36909	0.253;0.573;0.164	B;B;B	0.33521	0.06;0.165;0.027	T	0.58188	-0.7680	10	0.30854	T	0.27	-16.4641	7.0857	0.25255	0.7685:0.2315:0.0:0.0	.	23;23;23	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	G	23	ENSP00000256996:R23G;ENSP00000367866:R23G;ENSP00000367863:R23G;ENSP00000367864:R23G	ENSP00000256996:R23G	R	+	1	2	DDB2	47193330	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	2.041000	0.41213	0.763000	0.33175	0.533000	0.62120	AGG	-	NULL		0.572	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	protein_coding		A	NM_000107	-		47236754	1	no_errors	ENST00000256996	ensembl	human	known	74_37	missense	SNP	0.979	G	G	47236754	A	G	47236754	3	3	115	1	0	0	0	0	1	0	0	0	4326	295	11	5	69	5	DDB2	11	47236754	Missense_Mutation	SNP	A	TCGA-DX-AB2H-01A-11D-A38Z-09	3723040	47236754	87769762	40	8685											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103025517	103025517	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgacagtgaaattacaAtcagaggttgacaaatataa	9	4	1	5			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:103025517A>G	ENST00000375735.2	+	24	3696	c.3552A>G	c.(3550-3552)caA>caG	p.Q1184Q	DYNC2H1_ENST00000398093.3_Silent_p.Q1184Q|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	1184	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)		TGAAATTACAATCAGAGGTTG	0.303																																																	0								ENSG00000187240						50	45	47					11																	103025517		1815	4060	5875	DYNC2H1	SO:0001819	synonymous_variant	0			-	HGNC	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.3552A>G	11.37:g.103025517A>G		Somatic	0	84	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	59	45.87	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q1184	ENST00000375735.2	37	c.3552	CCDS53701.1	11																																																																																			-	pfam_Dynein_heavy_dom-2		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	A	XM_370652	-		103025517	1	no_errors	ENST00000398093	ensembl	human	known	74_37	silent	SNP	0.995	G	G	103025517	A	G	103025517	2	3	115	1	0	0	0	0	0	0	0	1	4848	98	4	5		5	DYNC2H1	11	103025517	Silent	SNP	A	TCGA-DX-AB2H-01A-11D-A38Z-09	55788763	103025517	31980999	41	8686											
DDI1	414301	genome.wustl.edu	37	chr11	103908420	103908420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtgggctggggttgcTaaaggagtgggcacacagag	19	7	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:103908420T>C	ENST00000302259.3	+	1	1113	c.870T>C	c.(868-870)gcT>gcC	p.A290A	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	290							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTGGGGTTGCTAAAGGAGTGG	0.502																																																	0								ENSG00000170967						112	104	107					11																	103908420		2202	4299	6501	DDI1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.870T>C	11.37:g.103908420T>C		Somatic	0	22	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	Q7Z4U6|Q8WTS3	Silent	SNP							pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.A290	ENST00000302259.3	37	c.870	CCDS31660.1	11																																																																																			-	pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom		0.502	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	protein_coding	OTTHUMT00000387326.1	T	NM_001001711	-		103908420	1	no_errors	ENST00000302259	ensembl	human	known	74_37	silent	SNP	0.928	C	C	103908420	T	C	103908420	2	2	115	1	0	0	0	0	0	0	0	1	4330	1509	53	5		5	DDI1	11	103908420	Silent	SNP	T	TCGA-DX-AB2H-01A-11D-A38Z-09	882903	103908420	31098096	42	8687											
STYK1	55359	genome.wustl.edu	37	chr12	10772806	10772806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccacagctgcatacagTtcaggtaccaccaactctgg	9	15	2	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:10772806T>G	ENST00000075503.3	-	11	1726	c.1206A>C	c.(1204-1206)gaA>gaC	p.E402D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	402						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTGCATACAGTTCAGGTACCA	0.502										HNSCC(73;0.22)																																							0								ENSG00000060140						184	175	178					12																	10772806		2203	4300	6503	STYK1	SO:0001583	missense	0			-	HGNC	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1206A>C	12.37:g.10772806T>G	ENSP00000075503:p.Glu402Asp	Somatic	0	18	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	2	88.89	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E402D	ENST00000075503.3	37	c.1206	CCDS8629.1	12	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903236	0.52333	.	.	ENSG00000060140	ENST00000075503	T	0.78816	-1.21	4.96	-6.26	0.02033	Protein kinase-like domain (1);	0.276103	0.29730	N	0.011357	T	0.60431	0.2268	L	0.41824	1.3	0.37866	D	0.929881	B	0.25390	0.125	B	0.22753	0.041	T	0.26155	-1.0111	10	0.59425	D	0.04	-4.1553	7.7231	0.28744	0.0:0.4083:0.3736:0.218	.	402	Q6J9G0	STYK1_HUMAN	D	402	ENSP00000075503:E402D	ENSP00000075503:E402D	E	-	3	2	STYK1	10664073	0.278000	0.24230	0.961000	0.40146	0.986000	0.74619	-0.913000	0.04042	-0.725000	0.04901	0.460000	0.39030	GAA	-	superfamily_Kinase-like_dom		0.502	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	protein_coding	OTTHUMT00000399622.1	T	NM_018423	-		10772806	-1	no_errors	ENST00000075503	ensembl	human	known	74_37	missense	SNP	0.642	G	G	10772806	T	G	10772806	3	3	115	1	0	0	0	0	1	0	0	0	15366	1722	60	5	66	5	STYK1	12	10772806	Missense_Mutation	SNP	T	TCGA-DX-AB2H-01A-11D-A38Z-09		10772806	123079089	43	8688											
KIF21A	55605	genome.wustl.edu	37	chr12	39727019	39727019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttgcttactgtacctcttCagttttgcgacgtagaacca	8	11	2	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:39727019C>T	ENST00000361418.5	-	18	2497	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.E815K|KIF21A_ENST00000395670.3_Missense_Mutation_p.E828K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E815K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	828					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTACCTCTTCAGTTTTGCGA	0.348																																																	0								ENSG00000139116						243	241	242					12																	39727019		2203	4300	6503	KIF21A	SO:0001583	missense	0			-	HGNC	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2482G>A	12.37:g.39727019C>T	ENSP00000354878:p.Glu828Lys	Somatic	0	74	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	375	405	48.08	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E828K	ENST00000361418.5	37	c.2482	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665753	0.88251	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.38	5.38	0.77491	.	0.000000	0.51477	D	0.000083	T	0.36331	0.0963	M	0.77486	2.375	0.80722	D	1	B;P;P;P	0.51057	0.287;0.658;0.461;0.941	B;B;B;P	0.51170	0.085;0.196;0.164;0.661	T	0.17048	-1.0382	10	0.54805	T	0.06	.	19.1305	0.93404	0.0:1.0:0.0:0.0	.	815;828;815;828	F5H219;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;KI21A_HUMAN;.;.	K	815;828;828;815;828	ENSP00000354851:E815K;ENSP00000379029:E828K;ENSP00000445606:E815K;ENSP00000354878:E828K	ENSP00000344501:E828K	E	-	1	0	KIF21A	38013286	1.000000	0.71417	0.955000	0.39395	0.945000	0.59286	7.138000	0.77305	2.531000	0.85337	0.557000	0.71058	GAA	-	NULL		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	C	NM_017641	-		39727019	-1	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39727019	C	T	39727019	3	4	115	1	0	0	0	0	1	0	0	0	8290	835	29	2	2626	2	KIF21A	12	39727019	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	28954213	39727019	94124876	44	8689											
ESYT1	23344	genome.wustl.edu	37	chr12	56522182	56522182	+	Frame_Shift_Del	DEL	C	C	-													cctccgaccccactgaccagCcccccgctgctcacgcaaag							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:56522182delC	ENST00000394048.5	+	1	343	c.79delC	c.(79-81)cccfs	p.P28fs	ESYT1_ENST00000541590.1_Frame_Shift_Del_p.P28fs|ESYT1_ENST00000267113.4_Frame_Shift_Del_p.P28fs|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	28					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CACTGACCAGCCCCCCGCTGC	0.697																																																	0								ENSG00000139641						37	40	39					12																	56522182		2200	4299	6499	ESYT1	SO:0001589	frameshift_variant	0				HGNC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.79delC	12.37:g.56522182delC	ENSP00000377612:p.Pro28fs	Somatic	0	80	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Del	DEL							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.A29fs	ENST00000394048.5	37	c.79	CCDS8904.1	12																																																																																			-	NULL		0.697	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	protein_coding	OTTHUMT00000407906.1	C	NM_015292			56522182	1	no_errors	ENST00000267113	ensembl	human	known	74_37	frame_shift_del	DEL	0.130	-	-	56522182	C	-	56522182	7	5	115	1	0	1	0	1	0	0	0	0	5266	739	26	0	81	0	ESYT1	12	56522182	Frame_Shift_Del	DEL	C	TCGA-DX-AB2H-01A-11D-A38Z-09	16795163	56522182	77329713	45	8690	155	2									
ESYT1	23344	genome.wustl.edu	37	chr12	56522184	56522184	+	Silent	SNP	C	C	G													tccgaccccactgaccagccCcccgctgctcacgcaaagcc							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:56522184C>G	ENST00000394048.5	+	1	345	c.81C>G	c.(79-81)ccC>ccG	p.P27P	ESYT1_ENST00000541590.1_Silent_p.P27P|ESYT1_ENST00000267113.4_Silent_p.P27P|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	27					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACCAGCCCCCCGCTGCTC	0.697																																																	0								ENSG00000139641						38	41	40					12																	56522184		2200	4299	6499	ESYT1	SO:0001819	synonymous_variant	0			-	HGNC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.81C>G	12.37:g.56522184C>G		Somatic	0	76	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.P27	ENST00000394048.5	37	c.81	CCDS8904.1	12																																																																																			-	NULL		0.697	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	protein_coding	OTTHUMT00000407906.1	C	NM_015292	-		56522184	1	no_errors	ENST00000267113	ensembl	human	known	74_37	silent	SNP	0.807	G	G	56522184	C	G	56522184	2	3	115	1	0	0	0	0	0	0	0	1	5266	610	22	4		4	ESYT1	12	56522184	Silent	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	2	56522184	77329711	46	8691	155	2									
TSPAN19	144448	genome.wustl.edu	37	chr12	85409741	85409741	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataccatgcactgattttatTttcacaaccctaagaaaaag	4	9	1	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:85409741T>A	ENST00000532498.2	-	8	684	c.604A>T	c.(604-606)Aat>Tat	p.N202Y	TSPAN19_ENST00000547403.2_5'Flank	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	202						integral component of membrane (GO:0016021)				ovary(1)	1						CTGATTTTATTTTCACAACCC	0.284																																																	0								ENSG00000231738						36	34	35					12																	85409741		1778	4017	5795	TSPAN19	SO:0001583	missense	0			-	HGNC		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.604A>T	12.37:g.85409741T>A	ENSP00000433816:p.Asn202Tyr	Somatic	0	102	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	409	1361	23.09		Missense_Mutation	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.N202Y	ENST00000532498.2	37	c.604	CCDS44949.1	12	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744308	0.15710	.	.	ENSG00000231738	ENST00000532498	T	0.79554	-1.28	4.06	-2.39	0.06602	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.68979	0.3060	N	0.14661	0.345	0.09310	N	0.999998	D	0.55385	0.971	P	0.52109	0.69	T	0.60791	-0.7193	9	0.66056	D	0.02	.	4.2716	0.10789	0.1912:0.4547:0.0:0.3541	.	202	P0C672	TSN19_HUMAN	Y	202	ENSP00000433816:N202Y	ENSP00000433816:N202Y	N	-	1	0	TSPAN19	83933872	0.728000	0.28080	0.404000	0.26397	0.019000	0.09904	-0.141000	0.10327	-0.330000	0.08514	-0.262000	0.10625	AAT	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.284	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	protein_coding	OTTHUMT00000388240.2	T	NM_001100917	-		85409741	-1	no_errors	ENST00000532498	ensembl	human	known	74_37	missense	SNP	0.449	A	A	85409741	T	A	85409741	3	1	115	1	0	0	0	0	1	0	0	0	16650	1841	64	5	150	5	TSPAN19	12	85409741	Missense_Mutation	SNP	T	TCGA-DX-AB2H-01A-11D-A38Z-09	28887557	85409741	48442154	47	8692											
EXOSC8	11340	genome.wustl.edu	37	chr13	37580294	37580294	+	Frame_Shift_Del	DEL	A	A	-													gacttatgcatttctccaggAaaggtaagaggaatagagaa							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr13:37580294delA	ENST00000389704.3	+	7	652	c.387delA	c.(385-387)ggafs	p.G129fs		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	129					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)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TTTCTCCAGGAAAGGTAAGAG	0.323																																																	0								ENSG00000120699						51	52	52					13																	37580294		2197	4295	6492	EXOSC8	SO:0001589	frameshift_variant	0				HGNC	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.387delA	13.37:g.37580294delA	ENSP00000374354:p.Gly129fs	Somatic	0	107	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	55	41.49	O43480|Q5TBA5	Frame_Shift_Del	DEL							pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.K130fs	ENST00000389704.3	37	c.387	CCDS31958.1	13																																																																																			-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.323	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	protein_coding	OTTHUMT00000044535.2	A	NM_181503			37580294	1	no_errors	ENST00000389704	ensembl	human	known	74_37	frame_shift_del	DEL	0.870	-	-	37580294	A	-	37580294	7	5	115	1	0	1	0	1	0	0	0	0	5322	233	9	0	413	0	EXOSC8	13	37580294	Frame_Shift_Del	DEL	A	TCGA-DX-AB2H-01A-11D-A38Z-09		37580294	77589584	48	8693											
C15orf55	256646	genome.wustl.edu	37	chr15	34640626	34640626	+	Frame_Shift_Del	DEL	T	T	-													ccaggagggtcctccaggccTtccgcctcagcctccaccac							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr15:34640626delT	ENST00000333756.4	+	2	628	c.473delT	c.(472-474)cttfs	p.L158fs	NUTM1_ENST00000537011.1_Frame_Shift_Del_p.L186fs|NUTM1_ENST00000438749.3_Frame_Shift_Del_p.L176fs	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	158	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTCCAGGCCTTCCGCCTCAG	0.592																																																	0								ENSG00000184507						50	43	45					15																	34640626		2201	4298	6499	NUTM1	SO:0001589	frameshift_variant	0				HGNC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.473delT	15.37:g.34640626delT	ENSP00000329448:p.Leu158fs	Somatic	0	30	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Frame_Shift_Del	DEL							NULL	p.P159fs	ENST00000333756.4	37	c.473	CCDS32190.1	15																																																																																			-	NULL		0.592	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	protein_coding	OTTHUMT00000418026.1	T	NM_175741			34640626	1	no_errors	ENST00000333756	ensembl	human	known	74_37	frame_shift_del	DEL	0.018	-	-	34640626	T	-	34640626	7	5	115	1	0	1	0	1	0	0	0	0	1805	1609	56	0	479	0	C15orf55	15	34640626	Frame_Shift_Del	DEL	T	TCGA-DX-AB2H-01A-11D-A38Z-09		34640626	67890766	49	8694											
ZNF592	9640	genome.wustl.edu	37	chr15	85327731	85327731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagcactatggccggCggagcgtccacattgaggta	14	11	0	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr15:85327731C>T	ENST00000560079.2	+	4	2113	c.1825C>T	c.(1825-1827)Cgg>Tgg	p.R609W	ZNF592_ENST00000299927.3_Missense_Mutation_p.R609W	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	609					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTATGGCCGGCGGAGCGTCCA	0.602																																																	0								ENSG00000166716						101	94	96					15																	85327731		2203	4299	6502	ZNF592	SO:0001583	missense	0			-	HGNC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1825C>T	15.37:g.85327731C>T	ENSP00000452877:p.Arg609Trp	Somatic	0	20	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q2M1T2|Q504Y9	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R609W	ENST00000560079.2	37	c.1825	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960763	0.53400	.	.	ENSG00000166716	ENST00000299927	T	0.60920	0.15	5.36	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.051684	0.85682	D	0.000000	T	0.67021	0.2849	L	0.39397	1.21	0.50813	D	0.999892	D	0.89917	1.0	D	0.97110	1.0	T	0.68842	-0.5302	10	0.87932	D	0	-20.5984	13.3875	0.60803	0.157:0.843:0.0:0.0	.	609	Q92610	ZN592_HUMAN	W	609	ENSP00000299927:R609W	ENSP00000299927:R609W	R	+	1	2	ZNF592	83128735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.301000	0.33447	2.774000	0.95407	0.655000	0.94253	CGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	protein_coding	OTTHUMT00000418779.2	C	NM_014630	-		85327731	1	no_errors	ENST00000299927	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85327731	C	T	85327731	3	4	115	1	0	0	0	0	1	0	0	0	18029	759	27	1	1827	1	ZNF592	15	85327731	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	50687105	85327731	17203661	50	8695											
SCNN1G	6340	genome.wustl.edu	37	chr16	23200982	23200982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgagtccaagcaagtggtggGattccaactggtaagatttc	12	8	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr16:23200982G>T	ENST00000300061.2	+	3	751	c.608G>T	c.(607-609)gGa>gTa	p.G203V		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	203					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAAGTGGTGGGATTCCAACTG	0.527																																																	0								ENSG00000166828						140	139	139					16																	23200982		2197	4300	6497	SCNN1G	SO:0001583	missense	0			-	HGNC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.608G>T	16.37:g.23200982G>T	ENSP00000300061:p.Gly203Val	Somatic	0	45	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	23	47.73	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.G203V	ENST00000300061.2	37	c.608	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555235	0.65425	.	.	ENSG00000166828	ENST00000300061	T	0.76968	-1.06	5.75	5.75	0.90469	.	0.071824	0.56097	N	0.000021	D	0.89406	0.6706	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90530	0.4495	10	0.87932	D	0	-10.6745	17.1001	0.86647	0.0:0.0:1.0:0.0	.	203	P51170	SCNNG_HUMAN	V	203	ENSP00000300061:G203V	ENSP00000300061:G203V	G	+	2	0	SCNN1G	23108483	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.144000	0.71762	2.721000	0.93114	0.511000	0.50034	GGA	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.527	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	protein_coding	OTTHUMT00000254496.1	G	NM_001039	-		23200982	1	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23200982	G	T	23200982	3	4	115	1	0	0	0	0	1	0	0	0	13938	1174	41	3	614	3	SCNN1G	16	23200982	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		23200982	67153771	51	8696											
TP53I13	90313	genome.wustl.edu	37	chr17	27899271	27899271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaggcggaggctgcggGctgcccttggtccccagccc	15	16	0	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:27899271G>A	ENST00000301057.7	+	6	740	c.625G>A	c.(625-627)Gct>Act	p.A209T	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	209						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GAGGCTGCGGGCTGCCCTTGG	0.662																																																	0								ENSG00000167543						19	23	21					17																	27899271		2034	4173	6207	TP53I13	SO:0001583	missense	0			-	HGNC	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.625G>A	17.37:g.27899271G>A	ENSP00000301057:p.Ala209Thr	Somatic	0	35	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q7L5U3	Missense_Mutation	SNP							NULL	p.A209T	ENST00000301057.7	37	c.625	CCDS42289.1	17	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000684	0.93227	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.091443	0.41605	D	0.000858	T	0.69360	0.3102	M	0.68317	2.08	0.34183	D	0.67115	D	0.76494	0.999	D	0.71414	0.973	T	0.74219	-0.3736	9	0.26408	T	0.33	-10.0604	11.6787	0.51444	0.0:0.0:1.0:0.0	.	209	Q8NBR0	P5I13_HUMAN	T	209	.	ENSP00000301057:A209T	A	+	1	0	TP53I13	24923397	0.994000	0.37717	0.987000	0.45799	0.419000	0.31324	5.424000	0.66464	2.199000	0.70637	0.462000	0.41574	GCT	-	NULL		0.662	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I13	protein_coding	OTTHUMT00000447804.2	G	NM_138349	-		27899271	1	no_errors	ENST00000301057	ensembl	human	known	74_37	missense	SNP	0.997	A	A	27899271	G	A	27899271	3	1	115	1	0	0	0	0	1	0	0	0	16393	1203	42	2	647	2	TP53I13	17	27899271	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		27899271	53295939	52	8697											
FAM104A	84923	genome.wustl.edu	37	chr17	71205859	71205861	+	In_Frame_Del	DEL	TGC	TGC	-													ggccctgtccgggctattgaTgctgctgctgctgctgctgc					rs141426163	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:71205859_71205861delTGC	ENST00000403627.3	-	3	428_430	c.368_370delGCA	c.(367-372)agcatc>atc	p.S123del	FAM104A_ENST00000583024.1_In_Frame_Del_p.A96del|FAM104A_ENST00000580032.1_In_Frame_Del_p.S33del|FAM104A_ENST00000405159.3_In_Frame_Del_p.S144del|FAM104A_ENST00000581110.1_In_Frame_Del_p.A90del|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	123	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGGCTATTGAtgctgctgctgct	0.596																																																	0								ENSG00000133193																																			FAM104A	SO:0001651	inframe_deletion	0				HGNC	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.368_370delGCA	17.37:g.71205868_71205870delTGC	ENSP00000384648:p.Ser123del	Somatic	0	42	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B4E339	In_Frame_Del	DEL							NULL	p.S144in_frame_del	ENST00000403627.3	37	c.433_431	CCDS11693.2	17																																																																																			-	NULL		0.596	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	protein_coding	OTTHUMT00000318935.1	TGC	NM_032837			71205861	-1	no_errors	ENST00000405159	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	71205861	TGC	-	71205859	7	5	115	1	0	1	0	1	0	0	0	0	5387	1464	51	0	194	0	FAM104A	17	71205859	In_Frame_Del	DEL	TGC	TCGA-DX-AB2H-01A-11D-A38Z-09	43306588	71205859	9989351	53	8698											
EXOC7	23265	genome.wustl.edu	37	chr17	74093906	74093906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatattccaccagccagCgggagatgcgaatgacatcc	11	13	0	2	rs576699784		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:74093906C>T	ENST00000335146.7	-	5	664	c.611G>A	c.(610-612)cGc>cAc	p.R204H	EXOC7_ENST00000332065.5_Missense_Mutation_p.R204H|EXOC7_ENST00000589210.1_Missense_Mutation_p.R204H|EXOC7_ENST00000405575.4_Missense_Mutation_p.R204H|EXOC7_ENST00000467929.2_Missense_Mutation_p.R163H|EXOC7_ENST00000607838.1_Missense_Mutation_p.R204H|EXOC7_ENST00000411744.2_Missense_Mutation_p.R204H			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	204					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CACCAGCCAGCGGGAGATGCG	0.557													C|||	1	0.000199681	0	0	5008	,	,		18338	0		0	False		,,,				2504	0.001																0								ENSG00000182473						66	58	61					17																	74093906		2203	4300	6503	EXOC7	SO:0001583	missense	0			-	HGNC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.611G>A	17.37:g.74093906C>T	ENSP00000334100:p.Arg204His	Somatic	0	35	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP							pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.R204H	ENST00000335146.7	37	c.611	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814587	0.70912	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.99	4.0	0.46444	Cullin repeat-like-containing domain (1);	0.310593	0.35495	N	0.003176	T	0.29976	0.0750	N	0.08118	0	0.80722	D	1	P;B;P;P;D;B;P;B	0.53745	0.507;0.032;0.702;0.685;0.962;0.002;0.95;0.003	B;B;B;B;B;B;B;B	0.43728	0.237;0.016;0.131;0.237;0.291;0.001;0.429;0.003	T	0.12656	-1.0539	9	0.39692	T	0.17	-11.161	12.9993	0.58666	0.1615:0.8385:0.0:0.0	.	204;204;163;163;204;204;204;204	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	H	204;124;204;204;204;163;204;204;89	.	ENSP00000333806:R204H	R	-	2	0	EXOC7	71605501	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.702000	0.37836	1.292000	0.44672	0.563000	0.77884	CGC	-	superfamily_Cullin_repeat-like_dom		0.557	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	protein_coding	OTTHUMT00000319768.2	C	NM_015219	-		74093906	-1	no_errors	ENST00000335146	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74093906	C	T	74093906	3	4	115	1	0	0	0	0	1	0	0	0	5312	768	27	1	1660	1	EXOC7	17	74093906	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09	2888047	74093906	7101304	54	8699											
PGS1	9489	genome.wustl.edu	37	chr17	76374748	76374749	+	Start_Codon_Ins	INS	-	-	GGCGGTGGC													cggaagcggcgagtctccatINSggcggtggcggcggcagctg							TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:76374748_76374749insGGCGGTGGC	ENST00000262764.6	+	0	28_29				PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CGAGTCTCCATGGCGGTGGCGG	0.738																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000087157																																			PGS1	SO:0001582	initiator_codon_variant	0				HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.3_11dupGGCGGTGGC	17.37:g.76374749_76374757dupGGCGGTGGC		Somatic					0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	In_Frame_Ins	INS							pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.5in_frame_insAVA	ENST00000262764.6	37	c.2_3	CCDS42391.1	17																																																																																			-	NULL		0.738	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	protein_coding	OTTHUMT00000437301.1	-	NM_024419			76374749	1	no_errors	ENST00000262764	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	GGCGGTGGC	GGCGGTGGC	76374749	-	GGCGGTGGC	76374748	7	5	115	1	0	1	1	0	0	0	0	0	11810	1464	51	0	4	0	PGS1	17	76374748	Start_Codon_Ins	INS	-	TCGA-DX-AB2H-01A-11D-A38Z-09	2280842	76374748	4820462	55	8700											
CCDC68	80323	genome.wustl.edu	37	chr18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtttctcagagctgctgctCctgcttctctggaggcttgc	11	13	2	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr18:52604167C>T	ENST00000591504.1	-	6	642	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_ENST00000337363.4_Missense_Mutation_p.G123E|CCDC68_ENST00000432185.1_Missense_Mutation_p.G123E	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418																																																	0								ENSG00000166510						121	106	111					18																	52604167		2203	4300	6503	CCDC68	SO:0001583	missense	0			-	HGNC		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma associated antigen"					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.368G>A	18.37:g.52604167C>T	ENSP00000466690:p.Gly123Glu	Somatic	0	59	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	40	43.66	B2R9I3	Missense_Mutation	SNP							superfamily_Prefoldin	p.G123E	ENST00000591504.1	37	c.368	CCDS11959.1	18	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449933	0.84101	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.39997	1.05;1.05	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000008	T	0.63510	0.2517	M	0.73598	2.24	0.45541	D	0.998494	D	0.89917	1.0	D	0.97110	1.0	T	0.57154	-0.7860	10	0.20519	T	0.43	-28.4592	16.7359	0.85447	0.0:1.0:0.0:0.0	.	123	Q9H2F9	CCD68_HUMAN	E	123	ENSP00000337209:G123E;ENSP00000413406:G123E	ENSP00000337209:G123E	G	-	2	0	CCDC68	50755165	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.102000	0.57776	2.775000	0.95449	0.650000	0.86243	GGA	-	NULL		0.418	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC68	protein_coding	OTTHUMT00000256006.1	C	NM_025214	-		52604167	-1	no_errors	ENST00000337363	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52604167	C	T	52604167	3	4	115	1	0	0	0	0	1	0	0	0	2842	855	30	2	667	2	CCDC68	18	52604167	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		52604167	25473081	56	8701											
ZBTB7A	51341	genome.wustl.edu	37	chr19	4048115	4048115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcgcactggtaggggcGcaggcccgtgtgcacgcgca	17	13	0	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:4048115G>A	ENST00000322357.4	-	3	1668	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R464C	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	464					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTAGGGGCGCAGGCCCGTG	0.657																																																	0								ENSG00000178951						67	61	63					19																	4048115		2203	4300	6503	ZBTB7A	SO:0001583	missense	0			-	HGNC	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1390C>T	19.37:g.4048115G>A	ENSP00000323670:p.Arg464Cys	Somatic	0	70	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R464C	ENST00000322357.4	37	c.1390	CCDS12119.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979621	0.74360	.	.	ENSG00000178951	ENST00000322357	T	0.20463	2.07	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000002	T	0.47432	0.1445	M	0.80982	2.52	0.54753	D	0.999988	D	0.89917	1.0	D	0.79784	0.993	T	0.55075	-0.8197	10	0.87932	D	0	.	13.6099	0.62071	0.0:0.0:1.0:0.0	.	464	O95365	ZBT7A_HUMAN	C	464	ENSP00000323670:R464C	ENSP00000323670:R464C	R	-	1	0	ZBTB7A	3999115	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.328000	0.65887	1.785000	0.52413	0.549000	0.68633	CGC	-	pfscan_Znf_C2H2		0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	protein_coding	OTTHUMT00000457621.2	G	NM_015898	-		4048115	-1	no_errors	ENST00000322357	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4048115	G	A	4048115	3	1	115	1	0	0	0	0	1	0	0	0	17560	1087	38	1	368	1	ZBTB7A	19	4048115	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		4048115	55080868	57	8702											
MUC16	94025	genome.wustl.edu	37	chr19	9064310	9064310	+	Frame_Shift_Del	DEL	G	G	-													gaagtcacaggaaggggagaGggggggatatgtgctaggaa					rs558504850	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:9064310delG	ENST00000397910.4	-	3	23339	c.23136delC	c.(23134-23136)cccfs	p.P7712fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7714	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						GAAGGGGAGAGGGGGGGATAT	0.532																																																	0								ENSG00000181143						95	96	96					19																	9064310		2026	4175	6201	MUC16	SO:0001589	frameshift_variant	0				HGNC	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.23136delC	19.37:g.9064310delG	ENSP00000381008:p.Pro7712fs	Somatic	0	26	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S7713fs	ENST00000397910.4	37	c.23136	CCDS54212.1	19																																																																																			-	NULL		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690			9064310	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	9064310	G	-	9064310	7	5	115	1	0	1	0	1	0	0	0	0	9975	987	35	0	20715	0	MUC16	19	9064310	Frame_Shift_Del	DEL	G	TCGA-DX-AB2H-01A-11D-A38Z-09	5016195	9064310	50064673	58	8703											
COL5A3	50509	genome.wustl.edu	37	chr19	10089586	10089586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtccccagggccccctTtggggccgggaaagcccctg	15	17	0	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:10089586T>C	ENST00000264828.3	-	40	3030	c.2945A>G	c.(2944-2946)aAa>aGa	p.K982R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	982	Collagen-like 5.|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)			AGGGCCCCCTTTGGGGCCGGG	0.617																																																	0								ENSG00000080573						11	13	13					19																	10089586		2195	4288	6483	COL5A3	SO:0001583	missense	0			-	HGNC	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.2945A>G	19.37:g.10089586T>C	ENSP00000264828:p.Lys982Arg	Somatic	0	83	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	45	50.00	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K982R	ENST00000264828.3	37	c.2945	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	t	0.011	-1.697069	0.00725	.	.	ENSG00000080573	ENST00000264828	D	0.94232	-3.38	4.58	2.14	0.27477	.	0.339243	0.26578	U	0.023588	T	0.78065	0.4225	N	0.05574	-0.02	0.22253	N	0.999251	B	0.02656	0.0	B	0.04013	0.001	T	0.64373	-0.6423	10	0.02654	T	1	.	2.3218	0.04212	0.0:0.2676:0.2943:0.4381	.	982	P25940	CO5A3_HUMAN	R	982	ENSP00000264828:K982R	ENSP00000264828:K982R	K	-	2	0	COL5A3	9950586	0.694000	0.27738	0.455000	0.27031	0.020000	0.10135	2.453000	0.44970	0.569000	0.29329	0.370000	0.22315	AAA	-	NULL		0.617	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	T	NM_015719	-		10089586	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.906	C	C	10089586	T	C	10089586	3	2	115	1	0	0	0	0	1	0	0	0	3700	1841	64	5	2404	5	COL5A3	19	10089586	Missense_Mutation	SNP	T	TCGA-DX-AB2H-01A-11D-A38Z-09	1025276	10089586	49039397	59	8704											
NAPA	8775	genome.wustl.edu	37	chr19	48003950	48003950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaggtggctgcgtcgtGcttgctctggagctgcaggt	16	9	1	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:48003950G>T	ENST00000263354.3	-	3	534	c.235C>A	c.(235-237)Cac>Aac	p.H79N	NAPA_ENST00000593785.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Intron	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	79					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)				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)		GCTGCGTCGTGCTTGCTCTGG	0.642																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						65	52	56					19																	48003950		2203	4300	6503	NAPA	SO:0001583	missense	0			-	HGNC	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.235C>A	19.37:g.48003950G>T	ENSP00000263354:p.His79Asn	Somatic	0	33	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP							prints_NSF_attach	p.H79N	ENST00000263354.3	37	c.235	CCDS12702.1	19	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793623	0.70452	.	.	ENSG00000105402	ENST00000263354	T	0.29655	1.56	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.69463	2.115	0.80722	D	1	D	0.60160	0.987	D	0.65684	0.937	T	0.57093	-0.7870	10	0.72032	D	0.01	-21.9661	16.4832	0.84163	0.0:0.0:1.0:0.0	.	79	P54920	SNAA_HUMAN	N	79	ENSP00000263354:H79N	ENSP00000263354:H79N	H	-	1	0	NAPA	52695762	1.000000	0.71417	0.985000	0.45067	0.361000	0.29550	9.259000	0.95561	2.399000	0.81585	0.462000	0.41574	CAC	-	NULL		0.642	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		48003950	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48003950	G	T	48003950	3	4	115	1	0	0	0	0	1	0	0	0	10163	1319	46	3	688	3	NAPA	19	48003950	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	37914364	48003950	11125033	60	8705											
LBP	3929	genome.wustl.edu	37	chr20	36977952	36977952	+	Splice_Site	DEL	G	G	-													agctatttcctttccacagcGgcccaggaggggctattggc					rs147682433		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr20:36977952delG	ENST00000217407.2	+	2	287	c.126delG	c.(124-126)gcg>gc	p.A43fs		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	43					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCACAGCGGCCCAGGAGG	0.627																																																	0								ENSG00000129988						23	22	23					20																	36977952		2203	4299	6502	LBP	SO:0001630	splice_region_variant	0				HGNC		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.125-1G>-	20.37:g.36977952delG		Somatic	0	9	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	B2R938|O43438|Q92672|Q9H403|Q9UD66	Frame_Shift_Del	DEL							pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.A43fs	ENST00000217407.2	37	c.126	CCDS13304.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.627	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBP	protein_coding	OTTHUMT00000079174.2	G	NM_004139		Frame_Shift_Del	36977952	1	no_errors	ENST00000217407	ensembl	human	known	74_37	frame_shift_del	DEL	0.870	-	-	36977952	G	-	36977952	8	5	115	1	0	1	0	1	0	0	1	0	8653	1130	39	0	132	0	LBP	20	36977952	Splice_Site	DEL	G	TCGA-DX-AB2H-01A-11D-A38Z-09		36977952	26047568	61	8706											
CDH22	64405	genome.wustl.edu	37	chr20	44815523	44815523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtggccagttctgggGgattgtcgttcacatccagg	16	8	2	0			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr20:44815523G>T	ENST00000372262.3	-	8	1887	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	CDH22_ENST00000537909.1_Missense_Mutation_p.P496H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	496	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGTTCTGGGGGATTGTCGTT	0.587																																																	0								ENSG00000149654						233	209	217					20																	44815523		2203	4300	6503	CDH22	SO:0001583	missense	0			-	HGNC	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1487C>A	20.37:g.44815523G>T	ENSP00000361336:p.Pro496His	Somatic	0	42	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B9EGK7|O43205	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P496H	ENST00000372262.3	37	c.1487	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862848	0.71949	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.61040	0.14;0.14	4.12	4.12	0.48240	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.200069	0.43747	D	0.000531	T	0.64338	0.2589	M	0.80422	2.495	0.53688	D	0.99997	P	0.46020	0.871	B	0.43916	0.436	T	0.74194	-0.3744	10	0.87932	D	0	.	15.5603	0.76240	0.0:0.0:1.0:0.0	.	496	Q9UJ99	CAD22_HUMAN	H	496	ENSP00000361336:P496H;ENSP00000437790:P496H	ENSP00000361336:P496H	P	-	2	0	CDH22	44248930	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.722000	0.84778	2.151000	0.67156	0.442000	0.29010	CCC	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	protein_coding	OTTHUMT00000080491.1	G	NM_021248	-		44815523	-1	no_errors	ENST00000372262	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44815523	G	T	44815523	3	4	115	1	0	0	0	0	1	0	0	0	3109	1232	43	3	1015	3	CDH22	20	44815523	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	7837571	44815523	18209997	62	8707											
GAB4	128954	genome.wustl.edu	37	chr22	17447244	17447244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgacaggcccacaagcGttcttcctggctaggaagag	12	11	2	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr22:17447244G>A	ENST00000400588.1	-	6	1141	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	345										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCCCACAAGCGTTCTTCCTGG	0.517																																																	0								ENSG00000215568						24	26	26					22																	17447244		1979	4185	6164	GAB4	SO:0001583	missense	0			-	HGNC	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1034C>T	22.37:g.17447244G>A	ENSP00000383431:p.Thr345Met	Somatic	0	39	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	0	100.00		Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T345M	ENST00000400588.1	37	c.1034	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991016	0.18966	.	.	ENSG00000215568	ENST00000400588	T	0.17054	2.3	2.96	2.96	0.34315	.	0.664569	0.15254	N	0.272190	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	B	0.34452	0.183	T	0.19516	-1.0303	10	0.46703	T	0.11	.	12.0813	0.53671	0.0:0.0:1.0:0.0	.	345	Q2WGN9	GAB4_HUMAN	M	345	ENSP00000383431:T345M	ENSP00000383431:T345M	T	-	2	0	GAB4	15827244	0.384000	0.25164	0.002000	0.10522	0.001000	0.01503	3.224000	0.51238	1.582000	0.49881	0.411000	0.27672	ACG	-	NULL		0.517	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	protein_coding	OTTHUMT00000315426.1	G	XM_372882	-		17447244	-1	no_errors	ENST00000400588	ensembl	human	known	74_37	missense	SNP	0.233	A	A	17447244	G	A	17447244	3	1	115	1	0	0	0	0	1	0	0	0	6153	1145	40	1	710	1	GAB4	22	17447244	Missense_Mutation	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09		17447244	33857322	63	8708											
PARVB	29780	genome.wustl.edu	37	chr22	44514977	44514977	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatcattgtgaagcagctGgaggaagacctgtatgacgg	15	6	1	3			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr22:44514977G>T	ENST00000338758.7	+	4	396	c.333G>T	c.(331-333)ctG>ctT	p.L111L	PARVB_ENST00000404989.1_Silent_p.L74L|PARVB_ENST00000406477.3_Silent_p.L144L	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	111	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGAAGCAGCTGGAGGAAGACC	0.602																																																	0								ENSG00000188677						194	166	175					22																	44514977		2203	4300	6503	PARVB	SO:0001819	synonymous_variant	0			-	HGNC	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.333G>T	22.37:g.44514977G>T		Somatic	0	50	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.L144	ENST00000338758.7	37	c.432	CCDS14056.1	22																																																																																			-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.602	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319518.2	G	NM_001003828	-		44514977	1	no_errors	ENST00000406477	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44514977	G	T	44514977	2	4	115	1	0	0	0	0	0	0	0	1	11471	1335	47	3		3	PARVB	22	44514977	Silent	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	27067733	44514977	6789589	64	8709											
GPR101	83550	genome.wustl.edu	37	chrX	136113605	136113605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagcgaaatctgcagcaggtCggtgacgaggaggttaaaga	16	6	1	2			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chrX:136113605C>A	ENST00000298110.1	-	1	228	c.229G>T	c.(229-231)Gac>Tac	p.D77Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	77						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)					TGCAGCAGGTCGGTGACGAGG	0.607																																																	0								ENSG00000165370						57	55	56					X																	136113605		2203	4300	6503	GPR101	SO:0001583	missense	0			-	HGNC	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.229G>T	X.37:g.136113605C>A	ENSP00000298110:p.Asp77Tyr	Somatic	0	53	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	Q5JSM8|Q8NG93	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.D77Y	ENST00000298110.1	37	c.229	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938638	0.73557	.	.	ENSG00000165370	ENST00000298110	D	0.88896	-2.44	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.95544	0.8552	M	0.92738	3.34	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96569	0.9421	9	0.87932	D	0	-26.4374	14.4369	0.67287	0.0:1.0:0.0:0.0	.	77	Q96P66	GP101_HUMAN	Y	77	ENSP00000298110:D77Y	ENSP00000298110:D77Y	D	-	1	0	GPR101	135941271	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.555000	0.67301	1.985000	0.57927	0.544000	0.68410	GAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	protein_coding	OTTHUMT00000058519.1	C		-		136113605	-1	no_errors	ENST00000298110	ensembl	human	known	74_37	missense	SNP	0.999	A	A	136113605	C	A	136113605	3	1	115	1	0	0	0	0	1	0	0	0	6624	884	31	3	1300	3	GPR101	23	136113605	Missense_Mutation	SNP	C	TCGA-DX-AB2H-01A-11D-A38Z-09		136113605	19156955	65	8710											
MAGEC3	139081	genome.wustl.edu	37	chrX	140983153	140983153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaggagtctggactcagGtcagcagagggaagcgtctt	16	8	4	1			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chrX:140983153G>A	ENST00000298296.1	+	5	1008	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Silent_p.R88R|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	336	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACTCAGGTCAGCAGAGG	0.577																																																	0								ENSG00000165509						122	107	112					X																	140983153		2202	4300	6502	MAGEC3	SO:0001819	synonymous_variant	0			-	HGNC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1008G>A	X.37:g.140983153G>A		Somatic	0	84	0		0.758481987029033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	32	52.24	Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP							pfam_MAGE,pfscan_MAGE	p.R336	ENST00000298296.1	37	c.1008	CCDS14676.1	X																																																																																			-	NULL		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	protein_coding	OTTHUMT00000058606.1	G	NM_138702	-		140983153	1	no_errors	ENST00000298296	ensembl	human	known	74_37	silent	SNP	0.006	A	A	140983153	G	A	140983153	2	1	115	1	0	0	0	0	0	0	0	1	9184	1252	44	2		2	MAGEC3	23	140983153	Silent	SNP	G	TCGA-DX-AB2H-01A-11D-A38Z-09	4869548	140983153	14287407	66	8711											
RPL11	6135	genome.wustl.edu	37	chr1	24018316	24018331	+	Start_Codon_Del	DEL	GGCGGTGAGTAGCTGG	GGCGGTGAGTAGCTGG	-													ctcttcctgctctccatcatGgcggtgagtagctgggacct					rs201469553		TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	GGCGGTGAGTAGCTGG	GGCGGTGAGTAGCTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr1:24018316_24018331delGGCGGTGAGTAGCTGG	ENST00000374550.3	+	0	48_51					NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11						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 localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TCTCCATCATGGCGGTGAGTAGCTGGGACCTGGATT	0.616											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CS086171	RPL11	S		ENSG00000142676																																			RPL11	SO:0001582	initiator_codon_variant	0				HGNC	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926		1.37:g.24018316_24018331delGGCGGTGAGTAGCTGG		Somatic				768	0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1				P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL							pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.M1fs	ENST00000374550.3	37	c.3_6	CCDS238.1	1																																																																																			-	pirsf_Ribosomal_L5		0.616	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	protein_coding	OTTHUMT00000008168.1	GGCGGTGAGTAGCTGG	NM_000975			24018331	1	no_errors	ENST00000374550	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	24018331	GGCGGTGAGTAGCTGG	-	24018316	7	5	116	1	0	1	0	1	0	0	0	0	13565	1348	47	0	5	0	RPL11	1	24018316	Start_Codon_Del	DEL	GGCGGTGAGTAGCTGG	TCGA-DX-AB2J-01A-11D-A387-09		24018316	225232305	1	8712											
MAP7D1	55700	genome.wustl.edu	37	chr1	36643568	36643568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccaggccacactctgcctCcaaagccaccgtccccccga	8	21	1	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr1:36643568C>A	ENST00000373151.2	+	9	1690	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T	MAP7D1_ENST00000373150.4_Missense_Mutation_p.P460T|MAP7D1_ENST00000373148.4_Missense_Mutation_p.P38T|MAP7D1_ENST00000316156.4_Missense_Mutation_p.P455T	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	492	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CACTCTGCCTCCAAAGCCACC	0.692																																																	0								ENSG00000116871						69	67	68					1																	36643568		2203	4299	6502	MAP7D1	SO:0001583	missense	0			-	HGNC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1474C>A	1.37:g.36643568C>A	ENSP00000362244:p.Pro492Thr	Somatic	0	38	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	23	45.24	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP							pfam_MAP7	p.P492T	ENST00000373151.2	37	c.1474	CCDS30673.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.67|17.67	3.446921|3.446921	0.63178|0.63178	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148|ENST00000530975	T;T;T;T|.	0.61627|.	0.09;0.09;0.09;0.09|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.40222|.	N|.	0.001158|.	T|T	0.63558|0.63558	0.2521|0.2521	L|L	0.54323|0.54323	1.7|1.7	0.47407|0.47407	D|D	0.999415|0.999415	D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999;1.0|.	D;D;D;D;D|.	0.83275|.	0.976;0.996;0.976;0.964;0.996|.	T|T	0.60924|0.60924	-0.7166|-0.7166	10|5	0.54805|.	T|.	0.06|.	-10.1624|-10.1624	13.5449|13.5449	0.61697|0.61697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	38;492;455;460;492|.	Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3|.	.;.;.;.;MA7D1_HUMAN|.	T|Y	455;460;492;38|74	ENSP00000320228:P455T;ENSP00000362243:P460T;ENSP00000362244:P492T;ENSP00000362241:P38T|.	ENSP00000320228:P455T|.	P|S	+|+	1|2	0|0	MAP7D1|MAP7D1	36416155|36416155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	2.926000|2.926000	0.48892|0.48892	2.576000|2.576000	0.86940|0.86940	0.591000|0.591000	0.81541|0.81541	CCA|TCC	-	NULL		0.692	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	protein_coding	OTTHUMT00000382095.1	C	NM_018067	-		36643568	1	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36643568	C	A	36643568	3	1	116	1	0	0	0	0	1	0	0	0	9269	855	30	3	1508	3	MAP7D1	1	36643568	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09	12625252	36643568	212607053	2	8713											
NCOA1	8648	genome.wustl.edu	37	chr2	24985627	24985627	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactgaccttctcaaaacAgaagcagatggaacccaggt	8	12	1	3			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr2:24985627A>C	ENST00000406961.1	+	22	4789	c.4137A>C	c.(4135-4137)acA>acC	p.T1379T	NCOA1_ENST00000405141.1_Silent_p.T1379T|NCOA1_ENST00000348332.3_Silent_p.T1379T|NCOA1_ENST00000407230.1_Silent_p.T1228T|NCOA1_ENST00000395856.3_Silent_p.T1379T|NCOA1_ENST00000538539.1_Silent_p.T1379T|NCOA1_ENST00000288599.5_Silent_p.T1379T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1379					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCAAAACAGAAGCAGATG	0.423			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								ENSG00000084676						140	148	145					2																	24985627		2203	4300	6503	NCOA1	SO:0001819	synonymous_variant	0			-	HGNC	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4137A>C	2.37:g.24985627A>C		Somatic	0	42	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	34	48.48	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP							pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.T1379	ENST00000406961.1	37	c.4137	CCDS1712.1	2																																																																																			-	pirsf_Nuclear_rcpt_coactivator		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	protein_coding	OTTHUMT00000246852.3	A	NM_147223	-		24985627	1	no_errors	ENST00000348332	ensembl	human	known	74_37	silent	SNP	1.000	C	C	24985627	A	C	24985627	2	2	116	1	0	0	0	0	0	0	0	1	10230	175	7	5		5	NCOA1	2	24985627	Silent	SNP	A	TCGA-DX-AB2J-01A-11D-A387-09		24985627	218213746	3	8714											
IFT172	26160	genome.wustl.edu	37	chr2	27684174	27684174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgataagggctgcagtgaTgtgttctaccagctctgtgt	12	8	2	2			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr2:27684174T>C	ENST00000260570.3	-	22	2507	c.2404A>G	c.(2404-2406)Atc>Gtc	p.I802V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	802					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCTGCAGTGATGTGTTCTACC	0.557																																																	0								ENSG00000138002						128	112	117					2																	27684174		2203	4300	6503	IFT172	SO:0001583	missense	0			-	HGNC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2404A>G	2.37:g.27684174T>C	ENSP00000260570:p.Ile802Val	Somatic	0	73	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	40	44.44	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.I802V	ENST00000260570.3	37	c.2404	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	T	5.719	0.317205	0.10845	.	.	ENSG00000138002	ENST00000260570	T	0.63096	-0.02	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.045766	0.85682	D	0.000000	T	0.38931	0.1059	N	0.13235	0.315	0.80722	D	1	B	0.23891	0.093	B	0.26202	0.067	T	0.32241	-0.9914	10	0.02654	T	1	-13.7921	9.1209	0.36786	0.0:0.0826:0.0:0.9174	.	802	Q9UG01	IF172_HUMAN	V	802	ENSP00000260570:I802V	ENSP00000260570:I802V	I	-	1	0	IFT172	27537678	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.356000	0.52269	2.119000	0.64992	0.477000	0.44152	ATC	-	superfamily_ARM-type_fold		0.557	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	protein_coding	OTTHUMT00000250213.2	T	NM_015662	-		27684174	-1	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	SNP	1.000	C	C	27684174	T	C	27684174	3	2	116	1	0	0	0	0	1	0	0	0	7559	1464	51	5	2953	5	IFT172	2	27684174	Missense_Mutation	SNP	T	TCGA-DX-AB2J-01A-11D-A387-09	2698547	27684174	215515199	4	8715											
SF3B1	23451	genome.wustl.edu	37	chr2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactgatggtccgaacttTctgctgctcatccacaagac	8	13	2	2	rs559063155		TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	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							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)						ENSG00000115524																																			SF3B1	SO:0001583	missense	0			-	HGNC	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	Somatic	0	31	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	E9PCH3	Missense_Mutation	SNP							pfam_SF3b_su1,superfamily_ARM-type_fold	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	-	superfamily_ARM-type_fold		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	T		-		198266834	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	SNP	1.000	C	C	198266834	T	C	198266834	3	2	116	1	0	0	0	0	1	0	0	0	14157	1792	62	5	1860	5	SF3B1	2	198266834	Missense_Mutation	SNP	T	TCGA-DX-AB2J-01A-11D-A387-09	170582660	198266834	44932539	5	8716											
OBSL1	23363	genome.wustl.edu	37	chr2	220435173	220435173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagcggaacttggcgtgcTtgccctcgttcacccagaag	12	13	1	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr2:220435173T>C	ENST00000404537.1	-	1	838	c.782A>G	c.(781-783)aAg>aGg	p.K261R	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.K261R|OBSL1_ENST00000373873.4_Missense_Mutation_p.K261R|OBSL1_ENST00000603926.1_Missense_Mutation_p.K261R|OBSL1_ENST00000265318.4_Missense_Mutation_p.K261R|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	261	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTTGGCGTGCTTGCCCTCGTT	0.726																																																	0								ENSG00000124006						35	42	39					2																	220435173		2048	4162	6210	OBSL1	SO:0001583	missense	0			-	HGNC	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.782A>G	2.37:g.220435173T>C	ENSP00000385636:p.Lys261Arg	Somatic	0	31	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	21	53.33	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K261R	ENST00000404537.1	37	c.782	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.876018	0.91664	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71651	0.3365	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.73062	-0.4101	9	0.46703	T	0.11	.	13.7818	0.63087	0.0:0.0:0.0:1.0	.	261;261	O75147;O75147-2	OBSL1_HUMAN;.	R	261	ENSP00000265318:K261R;ENSP00000385636:K261R;ENSP00000362983:K261R;ENSP00000362980:K261R	ENSP00000265318:K261R	K	-	2	0	OBSL1	220143417	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.672000	0.83956	1.899000	0.54978	0.334000	0.21626	AAG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.726	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	protein_coding	OTTHUMT00000322012.1	T		-		220435173	-1	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	SNP	1.000	C	C	220435173	T	C	220435173	3	2	116	1	0	0	0	0	1	0	0	0	10815	1609	56	5	5144	5	OBSL1	2	220435173	Missense_Mutation	SNP	T	TCGA-DX-AB2J-01A-11D-A387-09	22168339	220435173	22764200	6	8717											
DZIP3	9666	genome.wustl.edu	37	chr3	108361310	108361310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttgatatctctgaaaAtaactgatactgatataaga	7	4	1	5			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr3:108361310A>G	ENST00000361582.3	+	13	1320	c.1090A>G	c.(1090-1092)Ata>Gta	p.I364V	DZIP3_ENST00000463306.1_Missense_Mutation_p.I364V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	364					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCTCTGAAAATAACTGATAC	0.244																																																	0								ENSG00000198919						20	20	20					3																	108361310		2114	4123	6237	DZIP3	SO:0001583	missense	0			-	HGNC	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1090A>G	3.37:g.108361310A>G	ENSP00000355028:p.Ile364Val	Somatic	0	59	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	46.67	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I364V	ENST00000361582.3	37	c.1090	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	A	9.077	0.998351	0.19121	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.38887	1.11;1.11;1.11	4.93	1.27	0.21489	.	0.848979	0.10231	N	0.699677	T	0.22085	0.0532	N	0.19112	0.55	0.19945	N	0.999944	B;B	0.11235	0.003;0.004	B;B	0.10450	0.005;0.004	T	0.22695	-1.0209	10	0.23891	T	0.37	-0.9959	1.4543	0.02382	0.5407:0.1852:0.0966:0.1776	.	364;364	C9J9M8;Q86Y13	.;DZIP3_HUMAN	V	364	ENSP00000355028:I364V;ENSP00000418115:I364V;ENSP00000419981:I364V	ENSP00000355028:I364V	I	+	1	0	DZIP3	109844000	0.928000	0.31464	0.723000	0.30687	0.978000	0.69477	0.337000	0.19841	0.432000	0.26286	0.533000	0.62120	ATA	-	NULL		0.244	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	protein_coding	OTTHUMT00000353968.1	A	NM_014648	-		108361310	1	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	SNP	0.597	G	G	108361310	A	G	108361310	3	3	116	1	0	0	0	0	1	0	0	0	4867	101	4	5	1136	5	DZIP3	3	108361310	Missense_Mutation	SNP	A	TCGA-DX-AB2J-01A-11D-A387-09		108361310	89661120	7	8718											
GPRIN3	285513	genome.wustl.edu	37	chr4	90169766	90169766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttttgtggccgtttgtcGttttctctgcaaactcagat	9	9	2	1	rs374437786		TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr4:90169766G>A	ENST00000609438.1	-	2	2014	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T499M	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	499										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCCGTTTGTCGTTTTCTCTGC	0.443													G|||	1	0.000199681	0	0	5008	,	,		19497	0.001		0	False		,,,				2504	0																0								ENSG00000185477	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	97	105	103		1496	1.5	0	4		103	0,8600		0,0,4300	no	missense	GPRIN3	NM_198281.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	499/777	90169766	1,13005	2203	4300	6503	GPRIN3	SO:0001583	missense	0			-	HGNC	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1496C>T	4.37:g.90169766G>A	ENSP00000476603:p.Thr499Met	Somatic	0	28	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	19	50.00	Q8IVE4	Missense_Mutation	SNP							NULL	p.T499M	ENST00000609438.1	37	c.1496	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861345	0.51482	2.27E-4	0.0	ENSG00000185477	ENST00000333209	T	0.12879	2.64	5.23	1.51	0.23008	.	0.808429	0.10111	N	0.714779	T	0.17195	0.0413	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	P	0.59288	0.855	T	0.20075	-1.0286	10	0.45353	T	0.12	-1.5604	5.65	0.17610	0.2194:0.265:0.5156:0.0	.	499	Q6ZVF9	GRIN3_HUMAN	M	499	ENSP00000328672:T499M	ENSP00000328672:T499M	T	-	2	0	GPRIN3	90388789	0.013000	0.17824	0.000000	0.03702	0.007000	0.05969	0.944000	0.29043	0.058000	0.16222	0.655000	0.94253	ACG	-	NULL		0.443	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	G	NM_198281	-		90169766	-1	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	SNP	0.000	A	A	90169766	G	A	90169766	3	1	116	1	0	0	0	0	1	0	0	0	6733	1145	40	1	838	1	GPRIN3	4	90169766	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09		90169766	100984510	8	8719											
GAB1	2549	genome.wustl.edu	37	chr4	144387374	144387374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaatccacaccaccacGtaaggtgagtgacatgtgac	11	10	0	3			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr4:144387374G>A	ENST00000262994.4	+	9	2224	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	GAB1_ENST00000505913.1_Missense_Mutation_p.R538H|GAB1_ENST00000262995.4_Missense_Mutation_p.R671H	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	641					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|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)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACACCACCACGTAAGGTGAGT	0.398																																																	0								ENSG00000109458						123	109	114					4																	144387374		2203	4300	6503	GAB1	SO:0001583	missense	0			-	HGNC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1922G>A	4.37:g.144387374G>A	ENSP00000262994:p.Arg641His	Somatic	0	70	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	44	54.08	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R671H	ENST00000262994.4	37	c.2012	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799017	0.90538	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.14640	2.49;2.49;2.49	5.54	4.7	0.59300	.	0.127697	0.56097	D	0.000035	T	0.38639	0.1048	M	0.77820	2.39	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.28964	-1.0027	10	0.59425	D	0.04	2.133	14.3306	0.66553	0.0715:0.0:0.9285:0.0	.	641;671	Q13480;Q13480-2	GAB1_HUMAN;.	H	671;641;538	ENSP00000262995:R671H;ENSP00000262994:R641H;ENSP00000424554:R538H	ENSP00000262994:R641H	R	+	2	0	GAB1	144606824	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	8.892000	0.92491	1.334000	0.45468	0.591000	0.81541	CGT	-	NULL		0.398	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	protein_coding	OTTHUMT00000364998.1	G	NM_002039	-		144387374	1	no_errors	ENST00000262995	ensembl	human	known	74_37	missense	SNP	0.999	A	A	144387374	G	A	144387374	3	1	116	1	0	0	0	0	1	0	0	0	6150	1145	40	1	2050	1	GAB1	4	144387374	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09	54217608	144387374	46766902	9	8720											
PAIP1	10605	genome.wustl.edu	37	chr5	43535014	43535014	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatgttgaagttgcatggaCtctgccccagttacttgacc	9	10	1	2			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr5:43535014C>G	ENST00000306846.3	-	8	1370	c.1138G>C	c.(1138-1140)Gtc>Ctc	p.V380L	PAIP1_ENST00000514514.1_Missense_Mutation_p.V301L|PAIP1_ENST00000436644.2_Missense_Mutation_p.V301L|PAIP1_ENST00000338972.4_Missense_Mutation_p.V268L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	380					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GTTGCATGGACTCTGCCCCAG	0.368																																																	0								ENSG00000172239						107	102	104					5																	43535014		2203	4300	6503	PAIP1	SO:0001583	missense	0			-	HGNC	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1138G>C	5.37:g.43535014C>G	ENSP00000302768:p.Val380Leu	Somatic	0	113	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	66	43.10	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.V380L	ENST00000306846.3	37	c.1138	CCDS3947.1	5	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506808	0.64410	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514	T;T;T;T	0.30981	1.51;1.53;1.54;1.53	5.31	5.31	0.75309	.	0.058419	0.64402	N	0.000002	T	0.26448	0.0646	L	0.34521	1.04	0.51233	D	0.999913	B;B;B	0.12013	0.0;0.005;0.001	B;B;B	0.12837	0.002;0.008;0.005	T	0.02691	-1.1123	10	0.30078	T	0.28	-5.0293	17.1087	0.86669	0.0:1.0:0.0:0.0	.	301;380;301	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	L	380;301;268;301	ENSP00000302768:V380L;ENSP00000387729:V301L;ENSP00000339622:V268L;ENSP00000425084:V301L	ENSP00000302768:V380L	V	-	1	0	PAIP1	43570771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.044000	0.76578	2.646000	0.89796	0.585000	0.79938	GTC	-	NULL		0.368	PAIP1-001	KNOWN	basic|CCDS	protein_coding	PAIP1	protein_coding	OTTHUMT00000214024.1	C	NM_006451	-		43535014	-1	no_errors	ENST00000306846	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43535014	C	G	43535014	3	3	116	1	0	0	0	0	1	0	0	0	11398	565	20	4	317	4	PAIP1	5	43535014	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		43535014	137380246	10	8721											
COL19A1	1310	genome.wustl.edu	37	chr6	70637883	70637883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgccaaaaaggaacggTggtttctgtggcaggtttta	13	6	1	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr6:70637883T>C	ENST00000322773.4	+	5	451	c.349T>C	c.(349-351)Tgg>Cgg	p.W117R		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	117	Laminin G-like.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). {ECO:0000305}.	cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGAACGGTGGTTTCTGTG	0.423																																																	0								ENSG00000082293						115	116	115					6																	70637883		2203	4300	6503	COL19A1	SO:0001583	missense	0			-	HGNC		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.349T>C	6.37:g.70637883T>C	ENSP00000316030:p.Trp117Arg	Somatic	1	102	0.97		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	91	8.82	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.W117R	ENST00000322773.4	37	c.349	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376247	0.42105	.	.	ENSG00000082293	ENST00000322773	T	0.44083	0.93	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.60919	0.2306	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67829	-0.5569	10	0.87932	D	0	.	15.9886	0.80183	0.0:0.0:0.0:1.0	.	117	Q14993	COJA1_HUMAN	R	117	ENSP00000316030:W117R	ENSP00000316030:W117R	W	+	1	0	COL19A1	70694604	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.500000	0.81588	2.173000	0.68751	0.533000	0.62120	TGG	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.423	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	protein_coding	OTTHUMT00000041127.1	T		-		70637883	1	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70637883	T	C	70637883	3	2	116	1	0	0	0	0	1	0	0	0	3678	1696	59	5	363	5	COL19A1	6	70637883	Missense_Mutation	SNP	T	TCGA-DX-AB2J-01A-11D-A387-09		70637883	100477184	11	8722											
NFE2L3	9603	genome.wustl.edu	37	chr7	26224911	26224914	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													agtagataccttgaagacacAgatagaaacttgagccgtga					rs371060821|rs367544069		TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr7:26224911_26224914delAGAT	ENST00000056233.3	+	4	1852_1855	c.1593_1596delAGAT	c.(1591-1596)acagatfs	p.TD531fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	531					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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTGAAGACACAGATAGAAACTTGA	0.431																																																	0								ENSG00000050344																																			NFE2L3	SO:0001589	frameshift_variant	0				HGNC	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1593_1596delAGAT	7.37:g.26224911_26224914delAGAT	ENSP00000056233:p.Thr531fs	Somatic	0	112	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	62	28.74	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL							pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D532fs	ENST00000056233.3	37	c.1593_1596	CCDS5396.1	7																																																																																			-	NULL		0.431	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	protein_coding	OTTHUMT00000214088.1	AGAT				26224914	1	no_errors	ENST00000056233	ensembl	human	known	74_37	frame_shift_del	DEL	0.001:0.001:0.000:0.000	-	-	26224914	AGAT	-	26224911	7	5	116	1	0	1	0	1	0	0	0	0	10371	175	7	0	1607	0	NFE2L3	7	26224911	Frame_Shift_Del	DEL	AGAT	TCGA-DX-AB2J-01A-11D-A387-09		26224911	132913752	12	8723											
CCDC129	223075	genome.wustl.edu	37	chr7	31683280	31683280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcttccattcagacttcaGctctaagcaacaagaccttg	6	12	3	2			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr7:31683280G>T	ENST00000407970.3	+	11	2334	c.2296G>T	c.(2296-2298)Gct>Tct	p.A766S	CCDC129_ENST00000409210.1_Missense_Mutation_p.A674S|CCDC129_ENST00000319386.3_Missense_Mutation_p.A618S|CCDC129_ENST00000451887.2_Missense_Mutation_p.A792S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	766										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCAGACTTCAGCTCTAAGCAA	0.483																																																	0								ENSG00000180347						108	96	100					7																	31683280		2203	4300	6503	CCDC129	SO:0001583	missense	0			-	HGNC	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2296G>T	7.37:g.31683280G>T	ENSP00000384416:p.Ala766Ser	Somatic	0	46	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP							NULL	p.A792S	ENST00000407970.3	37	c.2374	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905639	0.33628	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20463	2.07;2.34;2.34;2.08	5.25	1.03	0.20045	.	1.697860	0.02988	N	0.146511	T	0.14184	0.0343	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.17465	0.022;0.008;0.008;0.004	B;B;B;B	0.18263	0.021;0.021;0.021;0.011	T	0.23368	-1.0190	10	0.37606	T	0.19	-11.1102	3.9479	0.09356	0.1904:0.0:0.4257:0.3838	.	792;776;766;618	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	S	618;766;792;776;674	ENSP00000313062:A618S;ENSP00000384416:A766S;ENSP00000395835:A792S;ENSP00000387214:A674S	ENSP00000313062:A618S	A	+	1	0	CCDC129	31649805	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.138000	0.16016	0.539000	0.28788	0.655000	0.94253	GCT	-	NULL		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	protein_coding	OTTHUMT00000318975.1	G	NM_194300	-		31683280	1	no_errors	ENST00000451887	ensembl	human	known	74_37	missense	SNP	0.000	T	T	31683280	G	T	31683280	3	4	116	1	0	0	0	0	1	0	0	0	2766	971	34	3	2334	3	CCDC129	7	31683280	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09	5458369	31683280	127455383	13	8724											
SPAG11B	10407	genome.wustl.edu	37	chr8	7320316	7320316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgccttgcccaggggCtctttccctgagttctccga	11	13	2	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr8:7320316C>A	ENST00000297498.2	-	2	293	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S	SPAG11B_ENST00000398462.2_Missense_Mutation_p.A43S|SPAG11B_ENST00000317900.5_Missense_Mutation_p.A43S|SPAG11B_ENST00000361111.2_Missense_Mutation_p.A43S|SPAG11B_ENST00000359758.5_Missense_Mutation_p.A43S	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	43					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGCCCAGGGGCTCTTTCCCTG	0.577																																																	0								ENSG00000164871						14	19	17					8																	7320316		2142	4164	6306	SPAG11B	SO:0001583	missense	0			-	HGNC	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.127G>T	8.37:g.7320316C>A	ENSP00000297498:p.Ala43Ser	Somatic	0	86	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	85	18.27	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP							pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.A43S	ENST00000297498.2	37	c.127	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100892	0.20552	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.47528	1.42;0.84;1.44	2.59	-1.37	0.09056	.	.	.	.	.	T	0.41305	0.1153	N	0.13098	0.295	0.09310	N	1	B;B;D;D;D	0.76494	0.003;0.004;0.992;0.99;0.999	B;B;D;D;D	0.83275	0.004;0.012;0.983;0.971;0.996	T	0.33523	-0.9865	9	0.19590	T	0.45	.	4.1753	0.10349	0.3852:0.4725:0.1423:0.0	.	43;43;43;43;43	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	S	26;43;43;43;43;43	ENSP00000437154:A26S;ENSP00000354411:A43S;ENSP00000297498:A43S	ENSP00000297498:A43S	A	-	1	0	SPAG11B	7307726	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.160000	0.03147	-0.288000	0.09051	-0.534000	0.04291	GCC	-	pfam_Sperm_Ag_HE2		0.577	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	protein_coding	OTTHUMT00000251390.2	C	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207	-		7320316	-1	no_errors	ENST00000398462	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7320316	C	A	7320316	3	1	116	1	0	0	0	0	1	0	0	0	14985	797	28	3	592	3	SPAG11B	8	7320316	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		7320316	139043706	14	8725											
VPS13B	157680	genome.wustl.edu	37	chr8	100711854	100711854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagataaaaaatgcacacAgtttggcacatagtgaagag	10	5	0	4			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr8:100711854A>G	ENST00000358544.2	+	36	6334	c.6223A>G	c.(6223-6225)Agt>Ggt	p.S2075G	VPS13B_ENST00000357162.2_Missense_Mutation_p.S2050G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2075					protein transport (GO:0015031)					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)			AAATGCACACAGTTTGGCACA	0.378																																					Colon(161;2205 2542 7338 31318)												0								ENSG00000132549						78	79	79					8																	100711854		2203	4300	6503	VPS13B	SO:0001583	missense	0			-	HGNC	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.6223A>G	8.37:g.100711854A>G	ENSP00000351346:p.Ser2075Gly	Somatic	0	47	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.S2075G	ENST00000358544.2	37	c.6223	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.906217	0.00512	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69685	-0.42;-0.42	4.08	-0.139	0.13460	.	1.329930	0.04772	N	0.428236	T	0.48333	0.1494	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12889	-1.0530	10	0.23302	T	0.38	.	3.6826	0.08316	0.4206:0.0:0.4167:0.1627	.	2050;2075	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2050;2075	ENSP00000349685:S2050G;ENSP00000351346:S2075G	ENSP00000349685:S2050G	S	+	1	0	VPS13B	100781030	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.306000	0.08178	-0.520000	0.06435	-0.242000	0.12053	AGT	-	NULL		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	A	NM_184042	-		100711854	1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	SNP	0.000	G	G	100711854	A	G	100711854	3	3	116	1	0	0	0	0	1	0	0	0	17197	188	7	5	6555	5	VPS13B	8	100711854	Missense_Mutation	SNP	A	TCGA-DX-AB2J-01A-11D-A387-09	93391538	100711854	45652168	15	8726											
TG	7038	genome.wustl.edu	37	chr8	134042071	134042071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttttctgaagggtccGgagaggtgagtggcaactgg	15	8	2	3			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr8:134042071G>A	ENST00000220616.4	+	41	7082	c.7042G>A	c.(7042-7044)Gga>Aga	p.G2348R	TG_ENST00000542445.1_Missense_Mutation_p.G718R|TG_ENST00000519543.1_Missense_Mutation_p.G481R|TG_ENST00000377869.1_Missense_Mutation_p.G2291R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2348					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGAAGGGTCCGGAGAGGTGAG	0.567																																																	0								ENSG00000042832						41	46	44					8																	134042071		2203	4300	6503	TG	SO:0001583	missense	0			-	HGNC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7042G>A	8.37:g.134042071G>A	ENSP00000220616:p.Gly2348Arg	Somatic	0	97	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	41	50.60	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP							pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.G2348R	ENST00000220616.4	37	c.7042	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.111414|2.111414	0.37242|0.37242	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31|.	5.13|5.13	-3.91|-3.91	0.04168|0.04168	Carboxylesterase, type B (1);|.	1.485330|.	0.04072|.	N|.	0.308170|.	T|T	0.30198|0.30198	0.0757|0.0757	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	P;P;P|.	0.46706|.	0.883;0.669;0.822|.	B;B;B|.	0.34652|.	0.187;0.164;0.131|.	T|T	0.32534|0.32534	-0.9903|-0.9903	10|5	0.44086|.	T|.	0.13|.	.|.	13.4171|13.4171	0.60974|0.60974	0.6175:0.0:0.3825:0.0|0.6175:0.0:0.3825:0.0	.|.	481;718;2348|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	R|Q	2291;1154;2348;718;481|803;143	ENSP00000367100:G2291R;ENSP00000220616:G2348R;ENSP00000441693:G718R;ENSP00000430430:G481R|.	ENSP00000220616:G2348R|.	G|R	+|+	1|2	0|0	TG|TG	134111253|134111253	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.262000|0.262000	0.26303|0.26303	-1.395000|-1.395000	0.02516|0.02516	-0.711000|-0.711000	0.04995|0.04995	0.462000|0.462000	0.41574|0.41574	GGA|CGG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	G	NM_003235	-		134042071	1	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	SNP	0.000	A	A	134042071	G	A	134042071	3	1	116	1	0	0	0	0	1	0	0	0	15820	1117	39	1	7204	1	TG	8	134042071	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09	33330217	134042071	12321951	16	8727											
GRIN1	2902	genome.wustl.edu	37	chr9	140036529	140036529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcactcccacccctgtctCctacacagccggcttctacc	4	21	3	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr9:140036529C>T	ENST00000371561.3	+	2	1420	c.323C>T	c.(322-324)tCc>tTc	p.S108F	GRIN1_ENST00000371555.4_Missense_Mutation_p.S108F|GRIN1_ENST00000371546.4_Missense_Mutation_p.S108F|GRIN1_ENST00000371550.4_Missense_Mutation_p.S108F|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.S108F|GRIN1_ENST00000371560.3_Missense_Mutation_p.S108F|GRIN1_ENST00000350902.5_Missense_Mutation_p.S108F|GRIN1_ENST00000371553.3_Missense_Mutation_p.S108F|GRIN1_ENST00000315048.3_Missense_Mutation_p.S108F	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	108					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCCCTGTCTCCTACACAGCC	0.592																																					NSCLC(113;717 1653 2089 20474 37618)												0								ENSG00000176884						366	288	314					9																	140036529		2203	4300	6503	GRIN1	SO:0001583	missense	0			-	HGNC		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.323C>T	9.37:g.140036529C>T	ENSP00000360616:p.Ser108Phe	Somatic	0	72	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	41	36.92	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S108F	ENST00000371561.3	37	c.323	CCDS7031.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153912	0.78114	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	3.37	3.37	0.38596	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.987;0.986;0.999;0.999;1.0;1.0	D	0.92063	0.5658	10	0.87932	D	0	.	13.8091	0.63252	0.0:1.0:0.0:0.0	.	108;108;108;108;108;108	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	F	108	ENSP00000360616:S108F;ENSP00000316696:S108F;ENSP00000316915:S108F;ENSP00000360605:S108F;ENSP00000360601:S108F;ENSP00000360610:S108F;ENSP00000360608:S108F;ENSP00000360614:S108F;ENSP00000360615:S108F	ENSP00000316696:S108F	S	+	2	0	GRIN1	139156350	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.016000	0.76393	1.887000	0.54652	0.462000	0.41574	TCC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.592	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	protein_coding	OTTHUMT00000055267.3	C	NM_007327	-		140036529	1	no_errors	ENST00000371561	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140036529	C	T	140036529	3	4	116	1	0	0	0	0	1	0	0	0	6780	855	30	2	329	2	GRIN1	9	140036529	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		140036529	1176902	17	8728											
PDE3B	5140	genome.wustl.edu	37	chr11	14891131	14891131	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaagctgatgggaataaActgcaggtggagaattcctc	12	6	0	2			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr11:14891131A>T	ENST00000282096.4	+	16	3617	c.3264A>T	c.(3262-3264)aaA>aaT	p.K1088N	PDE3B_ENST00000455098.2_Missense_Mutation_p.K1037N	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	1088					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	ATGGGAATAAACTGCAGGTGG	0.408																																																	0								ENSG00000152270						113	114	113					11																	14891131		2200	4294	6494	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.3264A>T	11.37:g.14891131A>T	ENSP00000282096:p.Lys1088Asn	Somatic	0	70	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	36	41.94	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.K1088N	ENST00000282096.4	37	c.3264	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716544	0.68844	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.63913	-0.07;-0.05	6.03	0.695	0.18070	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	2.879540	0.00616	N	0.000437	T	0.72145	0.3424	L	0.46157	1.445	0.39730	D	0.971595	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.84	T	0.59461	-0.7450	10	0.48119	T	0.1	.	10.6001	0.45362	0.6561:0.0:0.3439:0.0	.	1037;1088	B7ZM37;Q13370	.;PDE3B_HUMAN	N	1088;1037	ENSP00000282096:K1088N;ENSP00000388644:K1037N	ENSP00000282096:K1088N	K	+	3	2	PDE3B	14847707	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	1.510000	0.35790	0.175000	0.19841	-0.385000	0.06624	AAA	-	NULL		0.408	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	A	NM_000922	-		14891131	1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	0.998	T	T	14891131	A	T	14891131	3	4	116	1	0	0	0	0	1	0	0	0	11640	40	2	5	3326	5	PDE3B	11	14891131	Missense_Mutation	SNP	A	TCGA-DX-AB2J-01A-11D-A387-09		14891131	120115385	18	8729											
MFSD5	84975	genome.wustl.edu	37	chr12	53647129	53647129	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtggatcccagctacCtttgctcgagctgccttctg	11	13	1	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr12:53647129C>G	ENST00000329548.4	+	2	701	c.510C>G	c.(508-510)acC>acG	p.T170T	MFSD5_ENST00000534842.1_Silent_p.T277T	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	170					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCCAGCTACCTTTGCTCGAG	0.607																																																	0								ENSG00000182544						174	170	172					12																	53647129		2203	4300	6503	MFSD5	SO:0001819	synonymous_variant	0			-	HGNC	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.510C>G	12.37:g.53647129C>G		Somatic	0	42	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	82	18.81	G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP							pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T277	ENST00000329548.4	37	c.831	CCDS8851.1	12																																																																																			-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.607	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	protein_coding	OTTHUMT00000406896.1	C	NM_032889	-		53647129	1	no_errors	ENST00000534842	ensembl	human	known	74_37	silent	SNP	0.988	G	G	53647129	C	G	53647129	2	3	116	1	0	0	0	0	0	0	0	1	9536	668	24	4		4	MFSD5	12	53647129	Silent	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		53647129	80204766	19	8730											
BAZ2A	11176	genome.wustl.edu	37	chr12	56993005	56993005	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgagtaccgaggccctgcTgctgggctttctcggcccct	12	16	1	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr12:56993005T>G	ENST00000551812.1	-	27	5509	c.5316A>C	c.(5314-5316)gcA>gcC	p.A1772A	BAZ2A_ENST00000179765.5_Silent_p.A1740A|BAZ2A_ENST00000549884.1_Silent_p.A1770A|BAZ2A_ENST00000379441.3_Silent_p.A1742A|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1772					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAGGCCCTGCTGCTGGGCTTT	0.597																																																	0								ENSG00000076108						26	27	27					12																	56993005		1987	4164	6151	BAZ2A	SO:0001819	synonymous_variant	0			-	HGNC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5316A>C	12.37:g.56993005T>G		Somatic	0	47	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A1772	ENST00000551812.1	37	c.5316	CCDS44924.1	12																																																																																			-	superfamily_Bromodomain		0.597	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	T	NM_013449	-		56993005	-1	no_errors	ENST00000551812	ensembl	human	known	74_37	silent	SNP	0.000	G	G	56993005	T	G	56993005	2	3	116	1	0	0	0	0	0	0	0	1	1331	1567	55	5		5	BAZ2A	12	56993005	Silent	SNP	T	TCGA-DX-AB2J-01A-11D-A387-09	3345876	56993005	76858890	20	8731											
NAA25	80018	genome.wustl.edu	37	chr12	112512476	112512477	+	Intron	INS	-	-	A													ttcaggaaagaagacaacttINSactgttcaccttcagcagga							TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr12:112512476_112512477insA	ENST00000261745.4	-	9	1115					NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit							cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GAAGACAACTTACTGTTCACCT	0.361																																																	0								ENSG00000111300																																			NAA25	SO:0001627	intron_variant	0				HGNC	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.866+1->T	12.37:g.112512477_112512477dupA		Somatic	0	22	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Splice_Site	INS							-	e9+2	ENST00000261745.4	37	c.866+2_866+1	CCDS9159.1	12																																																																																			-	-		0.361	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	protein_coding	OTTHUMT00000405205.1	-	NM_024953			112512477	-1	no_errors	ENST00000261745	ensembl	human	known	74_37	splice_site_ins	INS	1.000:1.000	A	A	112512477	-	A	112512476	6	5	116	0	1	1	1	0	0	0	0	0	10123	1769	61	0		0	NAA25	12	112512476	Intron	INS	-	TCGA-DX-AB2J-01A-11D-A387-09	55519471	112512476	21339419	21	8732											
SMAD3	4088	genome.wustl.edu	37	chr15	67473711	67473711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatggcttcaccgacccctCcaattcggagcgcttctgcc	10	16	2	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr15:67473711C>T	ENST00000327367.4	+	6	1101	c.791C>T	c.(790-792)tCc>tTc	p.S264F	SMAD3_ENST00000439724.3_Missense_Mutation_p.S220F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S69F|SMAD3_ENST00000540846.2_Missense_Mutation_p.S159F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	264	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCGACCCCTCCAATTCGGAG	0.587																																																	0								ENSG00000166949						67	63	64					15																	67473711		2201	4299	6500	SMAD3	SO:0001583	missense	0			-	HGNC	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.791C>T	15.37:g.67473711C>T	ENSP00000332973:p.Ser264Phe	Somatic	0	66	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP							pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S264F	ENST00000327367.4	37	c.791	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029499	0.93518	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99744	1.1016	10	0.87932	D	0	.	18.8753	0.92332	0.0:1.0:0.0:0.0	.	220;264	B7Z4Z5;P84022	.;SMAD3_HUMAN	F	264;264;159;220;69	ENSP00000332973:S264F;ENSP00000437757:S159F;ENSP00000401133:S220F;ENSP00000445348:S69F	ENSP00000332973:S264F	S	+	2	0	SMAD3	65260765	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.675000	0.84002	2.515000	0.84797	0.555000	0.69702	TCC	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.587	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	protein_coding	OTTHUMT00000256967.2	C	NM_005902	-		67473711	1	no_errors	ENST00000327367	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67473711	C	T	67473711	3	4	116	1	0	0	0	0	1	0	0	0	14767	855	30	2	891	2	SMAD3	15	67473711	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		67473711	35057681	22	8733											
CREBBP	1387	genome.wustl.edu	37	chr16	3900553	3900553	+	Frame_Shift_Del	DEL	A	A	-													aggcctgggtgggtctggttAaagttagcattcatgcagat							TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr16:3900553delA	ENST00000262367.5	-	2	1352	c.543delT	c.(541-543)tttfs	p.F181fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.F181fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	181					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTCTGGTTAAAGTTAGCAT	0.527			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0								ENSG00000005339						85	82	83					16																	3900553		2197	4300	6497	CREBBP	SO:0001589	frameshift_variant	0				HGNC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.543delT	16.37:g.3900553delA	ENSP00000262367:p.Phe181fs	Somatic	0	60	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	44	45.00	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.F181fs	ENST00000262367.5	37	c.543	CCDS10509.1	16																																																																																			-	NULL		0.527	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	A	NM_004380			3900553	-1	no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_del	DEL	0.764	-	-	3900553	A	-	3900553	7	5	116	1	0	1	0	1	0	0	0	0	3863	359	13	0	6905	0	CREBBP	16	3900553	Frame_Shift_Del	DEL	A	TCGA-DX-AB2J-01A-11D-A387-09		3900553	86454200	23	8734											
YWHAE	7531	genome.wustl.edu	37	chr17	1265304	1265305	+	Splice_Site	INS	-	-	A													ctttagctcagtctcaacctINSaaaaaaaaaaaaattttttt					rs543499657|rs34985093	byFrequency	TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr17:1265304_1265305insA	ENST00000264335.8	-	3	532		c.e3-2		YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Splice_Site|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGTCTCAACCtaaaaaaaaaaa	0.322			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						|||unknown(HR)	578	0.115415	0.3669	0.0346	5008	,	,		19509	0.0188		0.0099	False		,,,				2504	0.0409							Dom	yes		17	17p13.3	7531	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	M	0								ENSG00000108953																																			YWHAE	SO:0001630	splice_region_variant	0				HGNC	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.265-2->T	17.37:g.1265315_1265315dupA		Somatic	0	58	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Splice_Site	INS							-	e3-2	ENST00000264335.8	37	c.265-3_265-2	CCDS11001.1	17																																																																																			-	-		0.322	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAE	protein_coding	OTTHUMT00000259354.3	-	NM_006761		Intron	1265305	-1	no_errors	ENST00000264335	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.895	A	A	1265305	-	A	1265304	8	5	116	1	0	1	1	0	0	0	1	0	17509	1536	53	0	520	0	YWHAE	17	1265304	Splice_Site	INS	-	TCGA-DX-AB2J-01A-11D-A387-09		1265304	79929906	24	8735											
PNPLA6	10908	genome.wustl.edu	37	chr19	7622127	7622127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgtgcgaccccaaggaCgggcacctactcatggatgg	13	14	1	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr19:7622127C>T	ENST00000221249.6	+	30	3671	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	PNPLA6_ENST00000600737.1_Silent_p.D1118D|PNPLA6_ENST00000414982.3_Silent_p.D1128D|PNPLA6_ENST00000450331.3_Silent_p.D1080D|PNPLA6_ENST00000545201.2_Silent_p.D1053D	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1119	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCCCAAGGACGGGCACCTAC	0.667																																																	0								ENSG00000032444						55	48	50					19																	7622127		2203	4299	6502	PNPLA6	SO:0001819	synonymous_variant	0			-	HGNC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3240C>T	19.37:g.7622127C>T		Somatic	0	156	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	84	48.15	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D1128	ENST00000221249.6	37	c.3384	CCDS32891.1	19																																																																																			-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	protein_coding	OTTHUMT00000459275.1	C	NM_006702	-		7622127	1	no_errors	ENST00000414982	ensembl	human	known	74_37	silent	SNP	0.970	T	T	7622127	C	T	7622127	2	4	116	1	0	0	0	0	0	0	0	1	12171	535	19	1		1	PNPLA6	19	7622127	Silent	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		7622127	51506856	25	8736											
ADCK4	79934	genome.wustl.edu	37	chr19	41208580	41208580	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgcaaggcctgcaggCtctgctcggcaaacaggcct	12	15	1	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr19:41208580C>G	ENST00000324464.3	-	10	1119	c.818G>C	c.(817-819)aGc>aCc	p.S273T	ADCK4_ENST00000450541.1_Missense_Mutation_p.S232T|ADCK4_ENST00000243583.6_Missense_Mutation_p.S232T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	273	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGCCTGCAGGCTCTGCTCGGC	0.642											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000123815						72	62	66					19																	41208580		2203	4300	6503	ADCK4	SO:0001583	missense	0			-	HGNC	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.818G>C	19.37:g.41208580C>G	ENSP00000315118:p.Ser273Thr	Somatic	0	71	0	899	0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	42	44.00	Q8TAJ1|Q9HA52	Missense_Mutation	SNP							pfam_UbiB_dom,superfamily_Kinase-like_dom	p.S273T	ENST00000324464.3	37	c.818	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	3.201	-0.163628	0.06502	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.53423	0.62;0.62;0.62	5.27	5.27	0.74061	ABC-1 (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	N	0.20401	0.57	0.36216	D	0.851663	B;B	0.18166	0.026;0.024	B;B	0.22386	0.036;0.039	T	0.30357	-0.9981	10	0.19590	T	0.45	-23.1851	9.2023	0.37265	0.1622:0.6808:0.157:0.0	.	273;232	Q96D53;Q96D53-2	ADCK4_HUMAN;.	T	273;232;232	ENSP00000315118:S273T;ENSP00000412839:S232T;ENSP00000243583:S232T	ENSP00000243583:S232T	S	-	2	0	ADCK4	45900420	0.965000	0.33210	1.000000	0.80357	0.963000	0.63663	2.425000	0.44723	2.465000	0.83290	0.555000	0.69702	AGC	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.642	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	protein_coding	OTTHUMT00000462731.1	C	NM_024876	-		41208580	-1	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	SNP	0.937	G	G	41208580	C	G	41208580	3	3	116	1	0	0	0	0	1	0	0	0	290	797	28	4	840	4	ADCK4	19	41208580	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09	33586453	41208580	17920403	26	8737											
SIGLEC6	946	genome.wustl.edu	37	chr19	52031508	52031508	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgccttctggtttccCtataatttgaattttaagtg	7	9	1	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr19:52031508C>T	ENST00000425629.3	-	6	1167		c.e6-1		SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000436458.1_Splice_Site|SIGLEC6_ENST00000474054.1_Splice_Site|SIGLEC6_ENST00000359982.4_Splice_Site|SIGLEC6_ENST00000346477.3_Splice_Site	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCTGGTTTCCCTATAATTTGA	0.502																																																	0								ENSG00000105492						63	69	67					19																	52031508		1939	4125	6064	SIGLEC6	SO:0001630	splice_region_variant	0			-	HGNC	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1013-1G>A	19.37:g.52031508C>T		Somatic	0	53	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	50	39.76	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Splice_Site	SNP							-	e6-1	ENST00000425629.3	37	c.1013-1	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	c	5.871	0.344803	0.11126	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458	.	.	.	2.81	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.41740	D	0.989602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2743	0.37690	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC6	56723320	0.066000	0.20996	0.014000	0.15608	0.039000	0.13416	2.260000	0.43267	1.879000	0.54435	0.404000	0.27445	.	-	-		0.502	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	protein_coding	OTTHUMT00000257670.3	C	NM_001245	-	Intron	52031508	-1	no_errors	ENST00000425629	ensembl	human	known	74_37	splice_site	SNP	0.015	T	T	52031508	C	T	52031508	5	4	116	1	0	0	0	0	0	0	1	0	14320	695	24	2	361	2	SIGLEC6	19	52031508	Splice_Site	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09	10822928	52031508	7097475	27	8738											
ATP5O	539	genome.wustl.edu	37	chr21	35284619	35284619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcaacaactccttttctaCttgctccagcttattctgtt	3	13	3	0			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chr21:35284619C>A	ENST00000290299.2	-	3	388	c.172G>T	c.(172-174)Gta>Tta	p.V58L	ATP5O_ENST00000496044.1_5'Flank|AP000304.12_ENST00000429238.1_Missense_Mutation_p.S6I	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	58					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TCCTTTTCTACTTGCTCCAGC	0.383																																																	0								ENSG00000241837						110	101	104					21																	35284619		2203	4300	6503	ATP5O	SO:0001583	missense	0			-	HGNC	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	850	protein-coding gene	gene with protein product	"oligomycin sensitivity conferring protein"	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.172G>T	21.37:g.35284619C>A	ENSP00000290299:p.Val58Leu	Somatic	0	76	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	45	35.71	B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP							pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,prints_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu	p.V58L	ENST00000290299.2	37	c.172	CCDS13634.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.987220|4.987220	0.93106|0.93106	.|.	.|.	ENSG00000249209|ENSG00000241837	ENST00000429238|ENST00000290299	.|T	.|0.48836	.|0.8	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.91635	.|0.999	T|T	0.77453|0.77453	-0.2582|-0.2582	5|10	.|0.87932	.|D	.|0	-16.0137|-16.0137	14.4701|14.4701	0.67512|0.67512	0.0:0.9285:0.0:0.0715|0.0:0.9285:0.0:0.0715	.|.	.|58	.|P48047	.|ATPO_HUMAN	I|L	6|58	.|ENSP00000290299:V58L	.|ENSP00000290299:V58L	S|V	-|-	2|1	0|0	AP000304.12|ATP5O	34206489|34206489	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.983000|0.983000	0.72400|0.72400	4.595000|4.595000	0.61048|0.61048	1.521000|1.521000	0.48983|0.48983	0.557000|0.557000	0.71058|0.71058	AGT|GTA	-	pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,tigrfam_ATPase_F1-cplx_OSCP/dsu		0.383	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5O	protein_coding	OTTHUMT00000139907.1	C	NM_001697	-		35284619	-1	no_errors	ENST00000290299	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35284619	C	A	35284619	3	1	116	1	0	0	0	0	1	0	0	0	1162	565	20	3	489	3	ATP5O	21	35284619	Missense_Mutation	SNP	C	TCGA-DX-AB2J-01A-11D-A387-09		35284619	12845276	28	8739											
FAM70A	55026	genome.wustl.edu	37	chrX	119425116	119425116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatactcacaatgtgtctgGcagcaaagaccccgtcaact	7	12	3	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chrX:119425116G>A	ENST00000309720.5	-	4	467	c.344C>T	c.(343-345)gCc>gTc	p.A115V	TMEM255A_ENST00000371369.4_Missense_Mutation_p.A115V|TMEM255A_ENST00000440464.1_Missense_Mutation_p.A115V	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	115						integral component of membrane (GO:0016021)											AATGTGTCTGGCAGCAAAGAC	0.443																																																	0								ENSG00000125355						81	59	67					X																	119425116		2203	4300	6503	TMEM255A	SO:0001583	missense	0			-	HGNC	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.344C>T	X.37:g.119425116G>A	ENSP00000310110:p.Ala115Val	Somatic	0	68	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	39	40.00	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP							NULL	p.A115V	ENST00000309720.5	37	c.344	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856889	0.91433	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	0.998;0.996;1.0	D;D;D	0.91635	0.994;0.986;0.999	T	0.74426	-0.3669	10	0.51188	T	0.08	-15.7364	15.2437	0.73490	0.0:0.0:1.0:0.0	.	115;115;115	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	V	115	ENSP00000310110:A115V;ENSP00000360420:A115V;ENSP00000405781:A115V;ENSP00000428013:A115V	ENSP00000310110:A115V	A	-	2	0	FAM70A	119309144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.998000	0.93550	2.189000	0.69895	0.513000	0.50165	GCC	-	NULL		0.443	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM255A	protein_coding	OTTHUMT00000058091.1	G	NM_017938	-		119425116	-1	no_errors	ENST00000309720	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119425116	G	A	119425116	3	1	116	1	0	0	0	0	1	0	0	0	5607	1203	42	2	733	2	FAM70A	23	119425116	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09		119425116	35845444	29	8740											
CUL4B	8450	genome.wustl.edu	37	chrX	119681082	119681082	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaatcttgtaagaacagaGattttctacagcctgcaagg	9	7	2	3			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chrX:119681082G>T	ENST00000404115.3	-	5	1140	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	CUL4B_ENST00000336592.6_Missense_Mutation_p.L234I|CUL4B_ENST00000371322.5_Missense_Mutation_p.L229I|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	247					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAGAACAGAGATTTTCTACA	0.338																																																	0								ENSG00000158290						76	67	70					X																	119681082		2203	4300	6503	CUL4B	SO:0001583	missense	0			-	HGNC	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.739C>A	X.37:g.119681082G>T	ENSP00000384109:p.Leu247Ile	Somatic	0	45	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L247I	ENST00000404115.3	37	c.739	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359709	0.82353	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	6.07	6.07	0.98685	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.117044	0.56097	D	0.000024	T	0.77598	0.4154	L	0.41632	1.29	0.80722	D	1	D;P	0.53151	0.958;0.948	P;P	0.61328	0.887;0.819	T	0.74799	-0.3542	9	.	.	.	-6.7012	18.371	0.90407	0.0:0.0:1.0:0.0	.	247;229	Q13620;Q13620-1	CUL4B_HUMAN;.	I	229;234;247;51	ENSP00000360373:L229I;ENSP00000338919:L234I;ENSP00000384109:L247I;ENSP00000360374:L51I	.	L	-	1	0	CUL4B	119565110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.565000	0.86533	0.600000	0.82982	CTC	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.338	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	protein_coding	OTTHUMT00000058103.1	G	NM_003588	-		119681082	-1	no_errors	ENST00000404115	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119681082	G	T	119681082	3	4	116	1	0	0	0	0	1	0	0	0	4060	942	33	3	2074	3	CUL4B	23	119681082	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09	255966	119681082	35589478	30	8741											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125686013	125686013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcgaagatccagtccttGtggccatggcggtcgcccag	14	13	0	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chrX:125686013G>T	ENST00000371126.1	-	1	821	c.579C>A	c.(577-579)caC>caA	p.H193Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	193										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCAGTCCTTGTGGCCATGGC	0.677																																																	0								ENSG00000198889						35	38	37					X																	125686013		2203	4299	6502	DCAF12L1	SO:0001583	missense	0			-	HGNC	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.579C>A	X.37:g.125686013G>T	ENSP00000360167:p.His193Gln	Somatic	0	238	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	101	47.67	Q8IYK3	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H193Q	ENST00000371126.1	37	c.579	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676401	0.67928	.	.	ENSG00000198889	ENST00000371126	T	0.81415	-1.49	3.89	2.99	0.34606	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34802	N	0.003667	D	0.89574	0.6754	M	0.88105	2.93	0.38862	D	0.956517	D	0.89917	1.0	D	0.91635	0.999	D	0.90525	0.4491	10	0.87932	D	0	.	9.903	0.41359	0.0:0.0:0.795:0.205	.	193	Q5VU92	DC121_HUMAN	Q	193	ENSP00000360167:H193Q	ENSP00000360167:H193Q	H	-	3	2	DCAF12L1	125513694	1.000000	0.71417	0.042000	0.18584	0.986000	0.74619	2.984000	0.49353	0.976000	0.38417	0.429000	0.28392	CAC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.677	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	protein_coding	OTTHUMT00000058186.1	G	NM_178470	-		125686013	-1	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	SNP	0.994	T	T	125686013	G	T	125686013	3	4	116	1	0	0	0	0	1	0	0	0	4266	1368	48	3	816	3	DCAF12L1	23	125686013	Missense_Mutation	SNP	G	TCGA-DX-AB2J-01A-11D-A387-09	6004931	125686013	29584547	31	8742											
MMGT1	93380	genome.wustl.edu	37	chrX	135047288	135047288	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccggaaaagtactcgAccacgatgattaaatacata	9	8	0	1			TCGA-DX-AB2J-01A-11D-A387-09	TCGA-DX-AB2J-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99dea98b-737e-44b4-a5fb-a73056d907f0	41d65688-6a36-465c-956a-66bfbb244ba2	g.chrX:135047288A>T	ENST00000305963.2	-	4	678	c.291T>A	c.(289-291)ggT>ggA	p.G97G	MMGT1_ENST00000433339.2_Silent_p.G162G	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	97					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						AAAGTACTCGACCACGATGAT	0.358																																																	0								ENSG00000169446						184	169	174					X																	135047288		2203	4300	6503	MMGT1	SO:0001819	synonymous_variant	0			-	HGNC	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"ER membrane protein complex subunit 5"		"transmembrane protein 32"	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.291T>A	X.37:g.135047288A>T		Somatic	0	35	0		0.519352782380449				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	34	42.37	B2R625|B4DIY3|D3DWG7|Q5JPP7	Silent	SNP							pfam_Magnesium_transport	p.G162	ENST00000305963.2	37	c.486	CCDS14653.1	X																																																																																			-	pfam_Magnesium_transport		0.358	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMGT1	protein_coding	OTTHUMT00000058453.3	A	NM_173470	-		135047288	-1	no_errors	ENST00000433339	ensembl	human	known	74_37	silent	SNP	1.000	T	T	135047288	A	T	135047288	2	4	116	1	0	0	0	0	0	0	0	1	9649	262	10	5		5	MMGT1	23	135047288	Silent	SNP	A	TCGA-DX-AB2J-01A-11D-A387-09	9361275	135047288	20223272	32	8743											
KIAA0907	22889	genome.wustl.edu	37	chr1	155893477	155893477	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggccttctggtttggggtGactgcaaagaaataaccagg	13	8	1	2			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr1:155893477G>T	ENST00000368321.3	-	8	918	c.895C>A	c.(895-897)Cac>Aac	p.H299N	KIAA0907_ENST00000368320.3_Splice_Site_p.H299N|KIAA0907_ENST00000482337.1_5'UTR|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Splice_Site_p.H299N	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	299							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGTTTGGGGTGACTGCAAAGA	0.363																																																	0								ENSG00000132680						75	76	76					1																	155893477		2203	4300	6503	KIAA0907	SO:0001630	splice_region_variant	0			-	HGNC	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.894-1C>A	1.37:g.155893477G>T		Somatic	0	32	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP							NULL	p.H299N	ENST00000368321.3	37	c.895	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547167	0.86022	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.41758	0.99;0.99;0.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.986	D;D;D	0.87578	0.998;0.997;0.98	T	0.60637	-0.7224	10	0.46703	T	0.11	-10.5885	19.6068	0.95584	0.0:0.0:1.0:0.0	.	299;299;299	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	N	299	ENSP00000357304:H299N;ENSP00000357303:H299N;ENSP00000357302:H299N	ENSP00000357302:H299N	H	-	1	0	KIAA0907	154160101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.447000	0.97595	2.742000	0.94016	0.650000	0.86243	CAC	-	NULL		0.363	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	protein_coding	OTTHUMT00000039583.1	G	NM_014949	-	Missense_Mutation	155893477	-1	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155893477	G	T	155893477	5	4	117	1	0	0	0	0	0	0	1	0	8201	1304	45	3	977	3	KIAA0907	1	155893477	Splice_Site	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		155893477	93357144	1	8744											
SAP130	79595	genome.wustl.edu	37	chr2	128753978	128753978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggagaggcccgatgtccgGagatgggaatcaggctactc	16	9	1	2			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr2:128753978G>T	ENST00000259235.3	-	11	1508	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y	SAP130_ENST00000259234.6_Missense_Mutation_p.S434Y|SAP130_ENST00000357702.5_Missense_Mutation_p.S460Y	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	460					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)			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)		CCGATGTCCGGAGATGGGAAT	0.552																																																	0								ENSG00000136715						111	97	102					2																	128753978		2203	4300	6503	SAP130	SO:0001583	missense	0			-	HGNC	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.1379C>A	2.37:g.128753978G>T	ENSP00000259235:p.Ser460Tyr	Somatic	0	46	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP							NULL	p.S460Y	ENST00000259235.3	37	c.1379	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664835	0.67700	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.25	5.25	0.73442	.	0.226336	0.47455	D	0.000221	T	0.65688	0.2715	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;P	0.71674	0.998;0.978;0.978;0.763	D;P;P;B	0.65443	0.935;0.804;0.804;0.444	T	0.69202	-0.5207	9	0.66056	D	0.02	-21.1838	19.2215	0.93799	0.0:0.0:1.0:0.0	.	460;433;460;98	B7ZLM3;Q96DP1;Q9H0E3;B3KRT9	.;.;SP130_HUMAN;.	Y	460;460;434	.	ENSP00000259234:S434Y	S	-	2	0	SAP130	128470448	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.153000	0.94687	2.603000	0.88011	0.655000	0.94253	TCC	-	NULL		0.552	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	protein_coding	OTTHUMT00000254436.3	G	NM_024545	-		128753978	-1	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128753978	G	T	128753978	3	4	117	1	0	0	0	0	1	0	0	0	13839	1174	41	3	1916	3	SAP130	2	128753978	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		128753978	114445395	2	8745											
SF3B1	23451	genome.wustl.edu	37	chr2	198257908	198257908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgtctgtctgtgtacaaGgtctctacaacggaagggaa	12	9	3	0			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr2:198257908G>T	ENST00000335508.6	-	24	3635	c.3544C>A	c.(3544-3546)Ctt>Att	p.L1182I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1182					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)			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)			CTGTGTACAAGGTCTCTACAA	0.403			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0								ENSG00000115524						79	71	74					2																	198257908		2203	4300	6503	SF3B1	SO:0001583	missense	0			-	HGNC	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.3544C>A	2.37:g.198257908G>T	ENSP00000335321:p.Leu1182Ile	Somatic	0	37	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	E9PCH3	Missense_Mutation	SNP							pfam_SF3b_su1,superfamily_ARM-type_fold	p.L1182I	ENST00000335508.6	37	c.3544	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485467	0.26686	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	4.83	4.83	0.62350	Armadillo-type fold (1);	0.065565	0.64402	D	0.000006	T	0.67534	0.2903	M	0.80028	2.48	0.80722	D	1	B	0.23854	0.092	B	0.27170	0.077	T	0.68112	-0.5495	10	0.44086	T	0.13	.	17.9272	0.88987	0.0:0.0:1.0:0.0	.	1182	O75533	SF3B1_HUMAN	I	1182	ENSP00000335321:L1182I	ENSP00000335321:L1182I	L	-	1	0	SF3B1	197966153	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	5.604000	0.67626	2.245000	0.73994	0.313000	0.20887	CTT	-	superfamily_ARM-type_fold		0.403	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	G		-		198257908	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	SNP	1.000	T	T	198257908	G	T	198257908	3	4	117	1	0	0	0	0	1	0	0	0	14157	1000	35	3	378	3	SF3B1	2	198257908	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	69503930	198257908	44941465	3	8746											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883699	228883699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggccttgttaaaaccagaGcagcctccttgagcaatccc	8	13	0	2			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr2:228883699G>T	ENST00000392056.3	-	7	1917	c.1871C>A	c.(1870-1872)gCt>gAt	p.A624D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A624D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	624						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)		TAAAACCAGAGCAGCCTCCTT	0.507																																																	0								ENSG00000153820						56	54	55					2																	228883699		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.1871C>A	2.37:g.228883699G>T	ENSP00000375909:p.Ala624Asp	Somatic	0	48	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.A624D	ENST00000392056.3	37	c.1871	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262196	0.59431	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.49432	0.78;0.78	5.84	3.07	0.35406	.	0.435366	0.26995	N	0.021448	T	0.52322	0.1727	L	0.56769	1.78	0.09310	N	1	P;D	0.54964	0.868;0.969	B;P	0.54499	0.312;0.754	T	0.40831	-0.9542	10	0.46703	T	0.11	.	8.2238	0.31558	0.1412:0.1308:0.7281:0.0	.	624;624	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	624	ENSP00000375909:A624D;ENSP00000339886:A624D	ENSP00000339886:A624D	A	-	2	0	SPHKAP	228591943	0.818000	0.29161	0.001000	0.08648	0.881000	0.50899	4.311000	0.59147	0.806000	0.34183	0.655000	0.94253	GCT	-	NULL		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	G	NM_030623	-		228883699	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.006	T	T	228883699	G	T	228883699	3	4	117	1	0	0	0	0	1	0	0	0	15055	971	34	3	3255	3	SPHKAP	2	228883699	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	30625791	228883699	14315674	4	8747											
TMEM40	55287	genome.wustl.edu	37	chr3	12790156	12790158	+	In_Frame_Del	DEL	GAG	GAG	-													tttaaatctctgctatacctGaggaggaggaggatgaagaa							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr3:12790156_12790158delGAG	ENST00000314124.7	-	3	563_565	c.207_209delCTC	c.(205-210)tcctca>tca	p.69_70SS>S	TMEM40_ENST00000431022.2_In_Frame_Del_p.85_86SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000264728.8_In_Frame_Del_p.69_70SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394																																																	0								ENSG00000088726																																			TMEM40	SO:0001651	inframe_deletion	0				HGNC	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.207_209delCTC	3.37:g.12790165_12790167delGAG	ENSP00000322837:p.Ser70del	Somatic	0	48	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL							NULL	p.S86in_frame_del	ENST00000314124.7	37	c.257_255	CCDS2613.1	3																																																																																			-	NULL		0.394	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM40	protein_coding	OTTHUMT00000252029.2	GAG	NM_018306			12790158	-1	no_errors	ENST00000431022	ensembl	human	known	74_37	in_frame_del	DEL	1.000:0.999:0.996	-	-	12790158	GAG	-	12790156	7	5	117	1	0	1	0	1	0	0	0	0	16170	1294	45	0	532	0	TMEM40	3	12790156	In_Frame_Del	DEL	GAG	TCGA-DX-AB2L-01A-32D-A417-09		12790156	185232274	5	8748											
SFMBT1	51460	genome.wustl.edu	37	chr3	52941739	52941739	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttatttttcttctttccGtaatagtgtgctaaatgtgg	7	6	2	0			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr3:52941739G>T	ENST00000394752.3	-	18	2299	c.1917C>A	c.(1915-1917)taC>taA	p.Y639*	SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.Y639*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.Y639*|SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.Y639*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	639					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCTTCTTTCCGTAATAGTGTG	0.373																																																	0								ENSG00000163935						101	103	102					3																	52941739		2202	4300	6502	SFMBT1	SO:0001587	stop_gained	0			-	HGNC	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1917C>A	3.37:g.52941739G>T	ENSP00000378235:p.Tyr639*	Somatic	0	82	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q402F7|Q96C73|Q9Y4Q9	Nonsense_Mutation	SNP							pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.Y639*	ENST00000394752.3	37	c.1917	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.788393	0.98954	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	.	.	.	5.39	-1.13	0.09775	.	0.064498	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9215	0.47167	0.5897:0.0:0.4103:0.0	.	.	.	.	X	639	.	ENSP00000296295:Y639X	Y	-	3	2	SFMBT1	52916779	0.989000	0.36119	0.997000	0.53966	0.991000	0.79684	0.537000	0.23144	-0.111000	0.12001	-0.238000	0.12139	TAC	-	NULL		0.373	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	protein_coding	OTTHUMT00000353040.3	G	NM_016329	-		52941739	-1	no_errors	ENST00000358080	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	52941739	G	T	52941739	4	4	117	1	0	0	0	0	0	1	0	0	14165	1140	40	3	699	3	SFMBT1	3	52941739	Nonsense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	40151583	52941739	145080691	6	8749											
WDFY3	23001	genome.wustl.edu	37	chr4	85674951	85674951	+	Frame_Shift_Del	DEL	G	G	-													ggcaaggtctggcacgttgtGatacaaatatctgaagaact							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr4:85674951delG	ENST00000295888.4	-	35	6045	c.5638delC	c.(5638-5640)cacfs	p.H1880fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.H1880fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1880					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGCACGTTGTGATACAAATAT	0.498																																																	0								ENSG00000163625						131	114	120					4																	85674951		2203	4300	6503	WDFY3	SO:0001589	frameshift_variant	0				HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5638delC	4.37:g.85674951delG	ENSP00000295888:p.His1880fs	Somatic	0	44	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1880fs	ENST00000295888.4	37	c.5638	CCDS3609.1	4																																																																																			-	NULL		0.498	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991			85674951	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	85674951	G	-	85674951	7	5	117	1	0	1	0	1	0	0	0	0	17277	1290	45	0	5078	0	WDFY3	4	85674951	Frame_Shift_Del	DEL	G	TCGA-DX-AB2L-01A-32D-A417-09		85674951	105479325	7	8750											
C7	730	genome.wustl.edu	37	chr5	40958329	40958329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacacatttggtgcggcGtgtgagcaaggagtcctcgt	14	10	0	1			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr5:40958329G>A	ENST00000313164.9	+	11	1814	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	485	EGF-like.				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)				TTGGTGCGGCGTGTGAGCAAG	0.512																																																	0								ENSG00000112936						118	118	118					5																	40958329		2031	4181	6212	C7	SO:0001819	synonymous_variant	0			-	HGNC	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.1455G>A	5.37:g.40958329G>A		Somatic	0	56	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6P3T5|Q92489	Silent	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.A485	ENST00000313164.9	37	c.1455	CCDS47201.1	5																																																																																			-	NULL		0.512	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	protein_coding	OTTHUMT00000317680.1	G		-		40958329	1	no_errors	ENST00000313164	ensembl	human	known	74_37	silent	SNP	0.005	A	A	40958329	G	A	40958329	2	1	117	1	0	0	0	0	0	0	0	1	2377	1132	40	1		1	C7	5	40958329	Silent	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		40958329	139956931	8	8751											
RNF144B	255488	genome.wustl.edu	37	chr6	18399888	18399888	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgagcagtctctggacaaGatgaccacactccaggaatg	11	10	1	3			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr6:18399888G>T	ENST00000259939.3	+	2	440	c.123G>T	c.(121-123)aaG>aaT	p.K41N	RNF144B_ENST00000486622.1_3'UTR|snoU13_ENST00000459328.1_RNA|RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	41					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTCTGGACAAGATGACCACAC	0.478																																																	0								ENSG00000137393						81	73	76					6																	18399888		2203	4300	6503	RNF144B	SO:0001583	missense	0			-	HGNC	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"RING-type (C3HC4) zinc fingers"	21578	protein-coding gene	gene with protein product			"IBR domain containing 2"	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.123G>T	6.37:g.18399888G>T	ENSP00000259939:p.Lys41Asn	Somatic	0	22	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Missense_Mutation	SNP							pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC	p.K41N	ENST00000259939.3	37	c.123	CCDS34345.1	6	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968439	0.34754	.	.	ENSG00000137393	ENST00000259939	T	0.30981	1.51	5.74	5.74	0.90152	Zinc finger, RING-type (1);	0.139081	0.64402	D	0.000004	T	0.13798	0.0334	L	0.36672	1.1	0.80722	D	1	B	0.12013	0.005	B	0.16722	0.016	T	0.03587	-1.1022	10	0.28530	T	0.3	.	13.7978	0.63182	0.0738:0.0:0.9262:0.0	.	41	Q7Z419	R144B_HUMAN	N	41	ENSP00000259939:K41N	ENSP00000259939:K41N	K	+	3	2	RNF144B	18507867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.841000	0.55850	2.715000	0.92844	0.655000	0.94253	AAG	-	smart_Znf_RING		0.478	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144B	protein_coding	OTTHUMT00000039965.2	G	XM_172581	-		18399888	1	no_errors	ENST00000259939	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18399888	G	T	18399888	3	4	117	1	0	0	0	0	1	0	0	0	13454	933	33	3	125	3	RNF144B	6	18399888	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		18399888	152715179	9	8752											
ZNF192	7745	genome.wustl.edu	37	chr6	28121013	28121013	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcggggaaatcccacacaaGagagacgacataaatgtgat	11	8	0	3			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr6:28121013G>T	ENST00000330236.6	+	6	1139	c.955G>T	c.(955-957)Gag>Tag	p.E319*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.E319*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	319					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)										TCCCACACAAGAGAGACGACA	0.517																																																	0								ENSG00000198315						98	97	97					6																	28121013		2203	4300	6503	ZKSCAN8	SO:0001587	stop_gained	0			-	HGNC		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.955G>T	6.37:g.28121013G>T	ENSP00000332750:p.Glu319*	Somatic	0	43	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E319*	ENST00000330236.6	37	c.955	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.001486	0.97189	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	6.09	6.09	0.99107	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.4664	0.94945	0.0:0.0:1.0:0.0	.	.	.	.	X	319	.	ENSP00000332750:E319X	E	+	1	0	ZNF192	28228992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.357000	0.52277	2.899000	0.99337	0.655000	0.94253	GAG	-	NULL		0.517	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN8	protein_coding	OTTHUMT00000040178.2	G		-		28121013	1	no_errors	ENST00000330236	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	28121013	G	T	28121013	4	4	117	1	0	0	0	0	0	1	0	0	17763	943	33	3	973	3	ZNF192	6	28121013	Nonsense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	9721125	28121013	142994054	10	8753											
CDK19	23097	genome.wustl.edu	37	chr6	110943300	110943300	+	Frame_Shift_Del	DEL	T	T	-													gcagtttataccttgtcaccTttttcttcaggatcatcttc							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr6:110943300delT	ENST00000368911.3	-	11	1280	c.1101delA	c.(1099-1101)aaafs	p.K367fs	CDK19_ENST00000323817.3_Frame_Shift_Del_p.K307fs|CDK19_ENST00000413605.2_Frame_Shift_Del_p.K243fs	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	367							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCTTGTCACCTTTTTCTTCAG	0.358																																																	0								ENSG00000155111						167	169	168					6																	110943300		2203	4300	6503	CDK19	SO:0001589	frameshift_variant	0				HGNC	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1101delA	6.37:g.110943300delT	ENSP00000357907:p.Lys367fs	Somatic	0	33	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G368fs	ENST00000368911.3	37	c.1101	CCDS5085.1	6																																																																																			-	NULL		0.358	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	protein_coding	OTTHUMT00000041804.1	T	NM_015076			110943300	-1	no_errors	ENST00000368911	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	110943300	T	-	110943300	7	5	117	1	0	1	0	1	0	0	0	0	3137	1606	56	0	419	0	CDK19	6	110943300	Frame_Shift_Del	DEL	T	TCGA-DX-AB2L-01A-32D-A417-09	82822287	110943300	60171767	11	8754											
GUSB	2990	genome.wustl.edu	37	chr7	65445284	65445284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggtccatcgctccGgcaggatcacctcccgttcg	12	16	1	0			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr7:65445284G>A	ENST00000304895.4	-	2	453	c.323C>T	c.(322-324)cCg>cTg	p.P108L	GUSB_ENST00000421103.1_Missense_Mutation_p.P108L|GUSB_ENST00000345660.6_Missense_Mutation_p.P108L|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	108					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCATCGCTCCGGCAGGATCAC	0.617																																																	0								ENSG00000169919						70	52	58					7																	65445284		2203	4300	6503	GUSB	SO:0001583	missense	0			-	HGNC	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.323C>T	7.37:g.65445284G>A	ENSP00000302728:p.Pro108Leu	Somatic	0	73	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP							pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.P108L	ENST00000304895.4	37	c.323	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590412	0.66219	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.96522	-4.04;-4.04;-4.04	5.22	5.22	0.72569	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98994	1.0809	10	0.87932	D	0	.	17.7876	0.88542	0.0:0.0:1.0:0.0	.	108;108	E9PCV0;P08236	.;BGLR_HUMAN	L	108	ENSP00000302728:P108L;ENSP00000391390:P108L;ENSP00000340734:P108L	ENSP00000302728:P108L	P	-	2	0	GUSB	65082719	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.134000	0.94467	2.451000	0.82905	0.561000	0.74099	CCG	-	pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like		0.617	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	protein_coding	OTTHUMT00000251637.3	G	NM_000181	-		65445284	-1	no_errors	ENST00000304895	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65445284	G	A	65445284	3	1	117	1	0	0	0	0	1	0	0	0	6904	1116	39	1	1676	1	GUSB	7	65445284	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		65445284	93693379	12	8755											
PRKRIP1	79706	genome.wustl.edu	37	chr7	102065517	102065519	+	In_Frame_Del	DEL	GAG	GAG	-													ctgcggaggcatctggaacaGaggaggaggaggaagtgccc							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr7:102065517_102065519delGAG	ENST00000496391.1	+	10	1824_1826	c.514_516delGAG	c.(514-516)gagdel	p.E176del	PRKRIP1_ENST00000397912.3_In_Frame_Del_p.E176del|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000354783.4_In_Frame_Del_p.G116del|PRKRIP1_ENST00000462601.1_In_Frame_Del_p.E119del|RP11-514P8.2_ENST00000468165.1_RNA			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	176	Poly-Glu.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						ATCTGGAACAGAGGAGGAGGAGG	0.567																																																	0								ENSG00000128563																																			PRKRIP1	SO:0001651	inframe_deletion	0				HGNC	AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.514_516delGAG	7.37:g.102065526_102065528delGAG	ENSP00000419270:p.Glu176del	Somatic	0	29	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B4DGM2|Q8NDM6|Q96CF8	In_Frame_Del	DEL							pfam_DUF1168	p.E175in_frame_del	ENST00000496391.1	37	c.514_516	CCDS34714.1	7																																																																																			-	pfam_DUF1168		0.567	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	protein_coding	OTTHUMT00000349489.1	GAG	NM_024653			102065519	1	no_errors	ENST00000397912	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.998	-	-	102065519	GAG	-	102065517	7	5	117	1	0	1	0	1	0	0	0	0	12530	943	33	0	536	0	PRKRIP1	7	102065517	In_Frame_Del	DEL	GAG	TCGA-DX-AB2L-01A-32D-A417-09	36620233	102065517	57073146	13	8756											
BLK	640	genome.wustl.edu	37	chr8	11403586	11403586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaccaccttactcctcCaccgcccgatgaacacctgg	5	19	1	1			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr8:11403586C>T	ENST00000259089.4	+	3	741	c.149C>T	c.(148-150)cCa>cTa	p.P50L	BLK_ENST00000529894.1_5'UTR	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	50					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTTACTCCTCCACCGCCCGAT	0.547																																																	0								ENSG00000136573						191	174	180					8																	11403586		2203	4300	6503	BLK	SO:0001583	missense	0			-	HGNC	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.149C>T	8.37:g.11403586C>T	ENSP00000259089:p.Pro50Leu	Somatic	0	52	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q16291|Q96IN1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.P50L	ENST00000259089.4	37	c.149	CCDS5982.1	8	.	.	.	.	.	.	.	.	.	.	C	8.477	0.858841	0.17178	.	.	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.39406	1.08	4.6	3.73	0.42828	Src homology-3 domain (1);	0.776356	0.10885	N	0.623342	T	0.23926	0.0579	N	0.08118	0	0.25261	N	0.989594	B	0.02656	0.0	B	0.04013	0.001	T	0.15407	-1.0438	10	0.51188	T	0.08	.	8.4656	0.32953	0.0:0.8952:0.0:0.1048	.	50	P51451	BLK_HUMAN	L	50	ENSP00000259089:P50L	ENSP00000259089:P50L	P	+	2	0	BLK	11440995	0.002000	0.14202	0.034000	0.17996	0.122000	0.20287	1.258000	0.32944	1.164000	0.42652	0.555000	0.69702	CCA	-	superfamily_SH3_domain		0.547	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	protein_coding	OTTHUMT00000207460.1	C		-		11403586	1	no_errors	ENST00000259089	ensembl	human	known	74_37	missense	SNP	0.056	T	T	11403586	C	T	11403586	3	4	117	1	0	0	0	0	1	0	0	0	1444	594	21	2	155	2	BLK	8	11403586	Missense_Mutation	SNP	C	TCGA-DX-AB2L-01A-32D-A417-09		11403586	134960436	14	8757											
FUT10	84750	genome.wustl.edu	37	chr8	33246610	33246610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctgtcagaagtcgctgGttagagatctcacccttcag	11	10	3	3			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr8:33246610G>T	ENST00000327671.5	-	4	1714	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K	FUT10_ENST00000518672.1_Missense_Mutation_p.N333K|FUT10_ENST00000524021.1_Missense_Mutation_p.N333K|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.N299K	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	361					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAAGTCGCTGGTTAGAGATCT	0.493																																																	0								ENSG00000172728						188	161	170					8																	33246610		2203	4300	6503	FUT10	SO:0001583	missense	0			-	HGNC	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1083C>A	8.37:g.33246610G>T	ENSP00000332757:p.Asn361Lys	Somatic	0	22	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP							pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.N361K	ENST00000327671.5	37	c.1083	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590170	0.66105	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.25414	1.8;1.8;1.8;1.93	5.04	-0.78	0.10969	.	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.76938	2.355	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;0.984;1.0;1.0;1.0;0.965	D;P;D;D;D;D	0.97110	1.0;0.882;1.0;0.998;0.999;0.957	T	0.36672	-0.9738	10	0.59425	D	0.04	-0.2477	9.141	0.36903	0.5576:0.0:0.4424:0.0	.	411;361;333;299;361;403	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	K	361;403;333;333;299	ENSP00000332757:N361K;ENSP00000430428:N333K;ENSP00000429870:N333K;ENSP00000334997:N299K	ENSP00000332757:N361K	N	-	3	2	FUT10	33366152	0.930000	0.31532	0.957000	0.39632	0.993000	0.82548	0.578000	0.23773	-0.136000	0.11475	0.557000	0.71058	AAC	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met		0.493	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	protein_coding	OTTHUMT00000376540.1	G	NM_032664	-		33246610	-1	no_errors	ENST00000327671	ensembl	human	known	74_37	missense	SNP	0.991	T	T	33246610	G	T	33246610	3	4	117	1	0	0	0	0	1	0	0	0	6104	1252	44	3	364	3	FUT10	8	33246610	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	21843024	33246610	113117412	15	8758											
GARNL3	84253	genome.wustl.edu	37	chr9	130095397	130095397	+	Frame_Shift_Del	DEL	A	A	-													accgtggcggtctggataccAaaagtaagcctgcctcttga							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr9:130095397delA	ENST00000373387.4	+	9	1118	c.766delA	c.(766-768)aaafs	p.K256fs	GARNL3_ENST00000314904.5_Frame_Shift_Del_p.K256fs|GARNL3_ENST00000435213.2_Frame_Shift_Del_p.K234fs	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	256	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTGGATACCAAAAGTAAGCC	0.443																																																	0								ENSG00000136895						66	68	68					9																	130095397		2203	4300	6503	GARNL3	SO:0001589	frameshift_variant	0				HGNC	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.766delA	9.37:g.130095397delA	ENSP00000362485:p.Lys256fs	Somatic	0	34	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Frame_Shift_Del	DEL							pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.N257fs	ENST00000373387.4	37	c.766	CCDS6869.2	9																																																																																			-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.443	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	protein_coding	OTTHUMT00000054151.3	A	NM_032293			130095397	1	no_errors	ENST00000373387	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	130095397	A	-	130095397	7	5	117	1	0	1	0	1	0	0	0	0	6243	131	5	0	800	0	GARNL3	9	130095397	Frame_Shift_Del	DEL	A	TCGA-DX-AB2L-01A-32D-A417-09		130095397	11118034	16	8759											
TUBB8	347688	genome.wustl.edu	37	chr10	93505	93505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtactgctggctgcccCggctggtcagtggggcaaag	16	13	1	0	rs147114528	byFrequency	TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr10:93505C>T	ENST00000309812.4	-	4	889	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'Flank|TUBB8_ENST00000447903.2_Missense_Mutation_p.R204Q	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	276					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R276Q(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGGCTGCCCCGGCTGGTCAG	0.627																																					Pancreas(192;2041 3010 9013 18103)												1	Substitution - Missense(1)	NS(1)						ENSG00000173876						21	26	24					10																	93505		1645	3246	4891	TUBB8	SO:0001583	missense	0			-	HGNC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.827G>A	10.37:g.93505C>T	ENSP00000311042:p.Arg276Gln	Somatic	0	80	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	Q5SQX9|Q8WZ78	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.R276Q	ENST00000309812.4	37	c.827	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301072	0.23650	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.80994	-1.44	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.094074	0.38326	N	0.001737	T	0.77046	0.4073	M	0.66560	2.04	0.28122	N	0.930544	B;P	0.44776	0.06;0.843	B;P	0.45167	0.009;0.472	T	0.71020	-0.4713	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	239;276	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	Q	204;242;239;276	ENSP00000403895:R204Q	ENSP00000272035:R242Q	R	-	2	0	RP11-631M21.2	83505	0.994000	0.37717	0.219000	0.23793	0.222000	0.24845	3.707000	0.54838	0.119000	0.18210	0.121000	0.15741	CGG	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin		0.627	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	protein_coding	OTTHUMT00000467795.1	C	NM_177987	rs147114528		93505	-1	no_errors	ENST00000309812	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93505	C	T	93505	3	4	117	1	0	0	0	0	1	0	0	0	16768	652	23	1	511	1	TUBB8	10	93505	Missense_Mutation	SNP	C	TCGA-DX-AB2L-01A-32D-A417-09		93505	135441242	17	8760											
TMEM180	79847	genome.wustl.edu	37	chr10	104233692	104233692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctcggcactcctctttgGcatggttgccttggtgacca	11	13	1	1			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr10:104233692G>T	ENST00000238936.4	+	9	1451	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V	TMEM180_ENST00000366277.2_Missense_Mutation_p.G134V	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	405						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTCCTCTTTGGCATGGTTGCC	0.617																																																	0								ENSG00000138111						80	61	67					10																	104233692		2203	4300	6503	TMEM180	SO:0001583	missense	0			-	HGNC	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1214G>T	10.37:g.104233692G>T	ENSP00000238936:p.Gly405Val	Somatic	0	30	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP							superfamily_MFS_dom_general_subst_transpt	p.G405V	ENST00000238936.4	37	c.1214	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.090040	0.94149	.	.	ENSG00000138111	ENST00000366277;ENST00000447593;ENST00000238936;ENST00000369930	D;D;D	0.89270	-2.17;-2.49;-2.17	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95717	0.8763	10	0.87932	D	0	.	19.6116	0.95608	0.0:0.0:1.0:0.0	.	254;405	B4DWN6;Q14CX5	.;TM180_HUMAN	V	134;254;405;134	ENSP00000437572:G134V;ENSP00000238936:G405V;ENSP00000358946:G134V	ENSP00000238936:G405V	G	+	2	0	TMEM180	104223682	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.605000	0.98321	2.651000	0.90000	0.561000	0.74099	GGC	-	superfamily_MFS_dom_general_subst_transpt		0.617	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	protein_coding	OTTHUMT00000050075.2	G	NM_024789	-		104233692	1	no_errors	ENST00000238936	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104233692	G	T	104233692	3	4	117	1	0	0	0	0	1	0	0	0	16106	1203	42	3	1240	3	TMEM180	10	104233692	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	104140187	104233692	31301055	18	8761											
OR52L1	338751	genome.wustl.edu	37	chr11	6007450	6007450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgcctggaggatgtgGgcataggaaacaccaatggc	14	9	0	0			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr11:6007450G>A	ENST00000332249.4	-	1	765	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGATGTGGGCATAGGAAA	0.512																																					Melanoma(121;653 1666 10547 22796 51255)												0								ENSG00000183313						151	146	148					11																	6007450		2064	4200	6264	OR52L1	SO:0001819	synonymous_variant	0			-	HGNC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.711C>T	11.37:g.6007450G>A		Somatic	0	25	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B2RPA6|Q6IFK9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237	ENST00000332249.4	37	c.711	CCDS44529.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.512	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	protein_coding	OTTHUMT00000383754.1	G	NM_001005173	-		6007450	-1	no_errors	ENST00000332249	ensembl	human	known	74_37	silent	SNP	0.044	A	A	6007450	G	A	6007450	2	1	117	1	0	0	0	0	0	0	0	1	11127	1219	43	2		2	OR52L1	11	6007450	Silent	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		6007450	128999066	19	8762											
NAT10	55226	genome.wustl.edu	37	chr11	34167679	34167679	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagaacccaaacagagcaaGaagttgaagaacagagagac	10	8	0	7			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr11:34167679G>T	ENST00000257829.3	+	29	3224	c.3018G>T	c.(3016-3018)aaG>aaT	p.K1006N	NAT10_ENST00000532555.1_3'UTR|NAT10_ENST00000531159.2_Missense_Mutation_p.K934N|NAT10_ENST00000527971.1_Missense_Mutation_p.K269N	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	1006	Lys-rich.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AACAGAGCAAGAAGTTGAAGA	0.363																																																	0								ENSG00000135372						100	110	107					11																	34167679		2202	4298	6500	NAT10	SO:0001583	missense	0			-	HGNC	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.3018G>T	11.37:g.34167679G>T	ENSP00000257829:p.Lys1006Asn	Somatic	0	91	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP							pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.K1006N	ENST00000257829.3	37	c.3018	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645849	0.29246	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	T;T	0.32023	1.47;1.47	4.42	0.858	0.19030	.	0.177425	0.50627	D	0.000105	T	0.17280	0.0415	L	0.36672	1.1	0.24444	N	0.99452	P	0.35328	0.495	B	0.25987	0.065	T	0.11641	-1.0579	10	0.33940	T	0.23	-18.722	7.2941	0.26383	0.3416:0.0:0.6584:0.0	.	1006	Q9H0A0	NAT10_HUMAN	N	1006;934;269	ENSP00000257829:K1006N;ENSP00000433011:K934N	ENSP00000257829:K1006N	K	+	3	2	NAT10	34124255	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	0.420000	0.21263	0.082000	0.17018	-0.258000	0.10820	AAG	-	NULL		0.363	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	protein_coding	OTTHUMT00000388693.1	G	NM_024662	-		34167679	1	no_errors	ENST00000257829	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34167679	G	T	34167679	3	4	117	1	0	0	0	0	1	0	0	0	10176	933	33	3	3128	3	NAT10	11	34167679	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	28160229	34167679	100838837	20	8763											
SOX5	6660	genome.wustl.edu	37	chr12	23908624	23908624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagcttgtctttccaGtcctttgagagtagtttttc	9	8	1	2			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr12:23908624G>T	ENST00000451604.2	-	4	617	c.516C>A	c.(514-516)gaC>gaA	p.D172E	SOX5_ENST00000541847.1_Missense_Mutation_p.D162E|SOX5_ENST00000537393.1_Missense_Mutation_p.D137E|SOX5_ENST00000541536.1_Missense_Mutation_p.D159E|SOX5_ENST00000546136.1_Missense_Mutation_p.D159E|SOX5_ENST00000309359.1_Missense_Mutation_p.D159E|SOX5_ENST00000381381.2_Missense_Mutation_p.D159E|SOX5_ENST00000545921.1_Missense_Mutation_p.D162E			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	172					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)			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						TGTCTTTCCAGTCCTTTGAGA	0.363																																																	0								ENSG00000134532						129	123	125					12																	23908624		2203	4299	6502	SOX5	SO:0001583	missense	0			-	HGNC	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.516C>A	12.37:g.23908624G>T	ENSP00000398273:p.Asp172Glu	Somatic	0	60	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D172E	ENST00000451604.2	37	c.516	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048570	0.75846	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.98400	-4.85;-4.85;-4.91;-4.85;-4.88;-4.91;-4.85	5.67	4.77	0.60923	.	0.049719	0.85682	D	0.000000	D	0.98642	0.9545	M	0.81497	2.545	0.45390	D	0.998379	D;D;D	0.89917	1.0;0.972;1.0	D;P;D	0.91635	0.999;0.866;0.997	D	0.98254	1.0495	10	0.87932	D	0	.	10.0696	0.42325	0.1453:0.0:0.8547:0.0	.	137;159;172	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	E	159;159;159;172;124;137;159;162;162	ENSP00000437487:D159E;ENSP00000308927:D159E;ENSP00000370788:D159E;ENSP00000398273:D172E;ENSP00000439832:D137E;ENSP00000441973:D159E;ENSP00000443520:D162E	ENSP00000308927:D159E	D	-	3	2	SOX5	23799891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.827000	0.62723	2.834000	0.97654	0.650000	0.86243	GAC	-	NULL		0.363	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	G	NM_006940	-		23908624	-1	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23908624	G	T	23908624	3	4	117	1	0	0	0	0	1	0	0	0	14962	1020	36	3	1833	3	SOX5	12	23908624	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		23908624	109943271	21	8764											
WDR66	144406	genome.wustl.edu	37	chr12	122359385	122359385	+	Frame_Shift_Del	DEL	C	C	-													gaggaggagaggaaaacgggCgaggaggaaggggaggagga					rs370060195		TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr12:122359385delC	ENST00000288912.4	+	2	1028	c.174delC	c.(172-174)ggcfs	p.G58fs	WDR66_ENST00000397454.2_Frame_Shift_Del_p.G58fs	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)												0								ENSG00000158023						44	45	45					12																	122359385		1915	4116	6031	WDR66	SO:0001589	frameshift_variant	0				HGNC	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.174delC	12.37:g.122359385delC	ENSP00000288912:p.Gly58fs	Somatic	0	26	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E59fs	ENST00000288912.4	37	c.174	CCDS41853.1	12																																																																																			-	NULL		0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	protein_coding	OTTHUMT00000401700.1	C	NM_144668			122359385	1	no_errors	ENST00000288912	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	122359385	C	-	122359385	7	5	117	1	0	1	0	1	0	0	0	0	17324	755	27	0	176	0	WDR66	12	122359385	Frame_Shift_Del	DEL	C	TCGA-DX-AB2L-01A-32D-A417-09	98450761	122359385	11492510	22	8765											
SERPINE3	647174	genome.wustl.edu	37	chr13	51918390	51918390	+	Frame_Shift_Del	DEL	A	A	-													ccaacttgtttttcacagacAaaagggtgaaagatttcttg							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr13:51918390delA	ENST00000521255.1	+	2	319	c.259delA	c.(259-261)aaafs	p.K87fs	SERPINE3_ENST00000400389.4_Frame_Shift_Del_p.K87fs|SERPINE3_ENST00000524365.1_Frame_Shift_Del_p.K87fs	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	87					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						TTTCACAGACAAAAGGGTGAA	0.488																																																	0								ENSG00000253309						58	59	58					13																	51918390		2022	4183	6205	SERPINE3	SO:0001589	frameshift_variant	0				HGNC	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.259delA	13.37:g.51918390delA	ENSP00000428316:p.Lys87fs	Somatic	0	18	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B1V8P3	Frame_Shift_Del	DEL							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R88fs	ENST00000521255.1	37	c.259	CCDS53870.1	13																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.488	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	protein_coding	OTTHUMT00000045021.2	A	NM_001101320			51918390	1	no_errors	ENST00000521255	ensembl	human	known	74_37	frame_shift_del	DEL	0.396	-	-	51918390	A	-	51918390	7	5	117	1	0	1	0	1	0	0	0	0	14121	131	5	0	265	0	SERPINE3	13	51918390	Frame_Shift_Del	DEL	A	TCGA-DX-AB2L-01A-32D-A417-09		51918390	63251488	23	8766											
SUZ12	23512	genome.wustl.edu	37	chr17	30264519	30264519	+	Frame_Shift_Del	DEL	T	T	-													cgtccaggctgaccacgagcTtttcctccaggcctttgaga							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr17:30264519delT	ENST00000322652.5	+	1	483	c.254delT	c.(253-255)cttfs	p.L85fs	SUZ12_ENST00000580398.1_Frame_Shift_Del_p.L85fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	85					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)				GACCACGAGCTTTTCCTCCAG	0.642			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0								ENSG00000178691			1,3545		0,1,1772	13	7	9			5.1	1	17		9	2,7072		0,2,3535	no	frameshift	SUZ12	NM_015355.2		0,3,5307	A1A1,A1R,RR		0.0283,0.0282,0.0282			30264519	3,10617	1870	3748	5618	SUZ12	SO:0001589	frameshift_variant	0				HGNC	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.254delT	17.37:g.30264519delT	ENSP00000316578:p.Leu85fs	Somatic	0	36	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q96BD9	Frame_Shift_Del	DEL							pfam_Polycomb_protein_VEFS-Box	p.F86fs	ENST00000322652.5	37	c.254	CCDS11270.1	17																																																																																			-	NULL		0.642	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	protein_coding	OTTHUMT00000256260.2	T	NM_015355			30264519	1	no_errors	ENST00000322652	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	30264519	T	-	30264519	7	5	117	1	0	1	0	1	0	0	0	0	15423	1609	56	0	256	0	SUZ12	17	30264519	Frame_Shift_Del	DEL	T	TCGA-DX-AB2L-01A-32D-A417-09		30264519	50930691	24	8767											
NKIRAS2	28511	genome.wustl.edu	37	chr17	40175789	40175789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgggaggtgtcagtgGcggaccggcgctccctcctg	17	12	1	0			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr17:40175789G>T	ENST00000307641.5	+	4	1075	c.454G>T	c.(454-456)Gcg>Tcg	p.A152S	NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.A152S|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.A190S|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.A150S|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.A152S|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.A96S|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.A152S	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	152	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GGTGTCAGTGGCGGACCGGCG	0.602																																																	0								ENSG00000168256						109	101	104					17																	40175789		2203	4300	6503	NKIRAS2	SO:0001583	missense	0			-	HGNC	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"NFKB inhibitor interacting Ras-like protein 2"			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.454G>T	17.37:g.40175789G>T	ENSP00000303580:p.Ala152Ser	Somatic	0	74	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A152S	ENST00000307641.5	37	c.454	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511381	0.44660	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.65	4.68	0.58851	Small GTP-binding protein domain (1);	0.423368	0.28093	N	0.016629	T	0.67069	0.2854	L	0.33339	1.005	0.34313	D	0.685719	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.71738	-0.4502	10	0.66056	D	0.02	-24.7822	10.2524	0.43377	0.1465:0.0:0.8535:0.0	.	96;152	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	S	152;150;152;152;152;96;190	ENSP00000303580:A152S;ENSP00000377462:A150S;ENSP00000377458:A152S;ENSP00000377459:A152S;ENSP00000377463:A152S;ENSP00000312773:A190S	ENSP00000303580:A152S	A	+	1	0	NKIRAS2	37429315	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.399000	0.52586	2.660000	0.90430	0.467000	0.42956	GCG	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.602	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	protein_coding	OTTHUMT00000257457.1	G	NM_017595	-		40175789	1	no_errors	ENST00000307641	ensembl	human	known	74_37	missense	SNP	0.999	T	T	40175789	G	T	40175789	3	4	117	1	0	0	0	0	1	0	0	0	10447	1203	42	3	464	3	NKIRAS2	17	40175789	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09	9911270	40175789	41019421	25	8768											
UHRF1	29128	genome.wustl.edu	37	chr19	4941605	4941605	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagattgagcggccggGtgaagggagccccatggttg	16	9	1	3			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr19:4941605G>T	ENST00000592666.1	+	0	1427							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGCGGCCGGGTGAAGGGAGC	0.592																																																	0								ENSG00000034063						55	61	59					19																	4941605		1932	4148	6080	UHRF1			0			-	HGNC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4941605G>T		Somatic	0	82	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP							-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087448	0.55968	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.58	3.54	0.40534	.	0.243627	0.42548	D	0.000684	T	0.61476	0.2350	M	0.73217	2.22	0.43683	D	0.996123	D;P	0.57899	0.981;0.866	P;P	0.52758	0.708;0.598	T	0.74850	-0.3524	8	0.66056	D	0.02	-16.1128	11.8356	0.52321	0.0868:0.0:0.9132:0.0	.	297;284	Q2HIX7;Q96T88	.;UHRF1_HUMAN	V	284;284;284;297	.	ENSP00000262952:G284V	G	+	2	0	UHRF1	4892605	1.000000	0.71417	0.008000	0.14137	0.059000	0.15707	5.472000	0.66768	1.110000	0.41699	0.561000	0.74099	GGT	-	-		0.592	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	processed_transcript	OTTHUMT00000450444.1	G	NM_001048201	-		4941605	1	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	SNP	0.980	T	T	4941605	G	T	4941605	1	4	117	0	1	0	0	0	0	0	0	0	16974	1261	44	3		3	UHRF1	19	4941605	RNA	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		4941605	54187378	26	8769											
ETHE1	23474	genome.wustl.edu	37	chr19	44031264	44031264	+	Frame_Shift_Del	DEL	G	G	-													cgcacctgccgcaggaggatGggggctccagacccgccgcg							TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr19:44031264delG	ENST00000292147.2	-	1	132	c.66delC	c.(64-66)cccfs	p.P22fs	ETHE1_ENST00000600651.1_Frame_Shift_Del_p.P22fs|ZNF575_ENST00000458714.2_Intron	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	22					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GCAGGAGGATGGGGGCTCCAG	0.697																																																	0			GRCh37	CD068235	ETHE1	D		ENSG00000105755						4	5	5					19																	44031264		1934	3928	5862	ETHE1	SO:0001589	frameshift_variant	0				HGNC		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.66delC	19.37:g.44031264delG	ENSP00000292147:p.Pro22fs	Somatic	0	22	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	Q96HR0|Q9H001	Frame_Shift_Del	DEL							pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.I23fs	ENST00000292147.2	37	c.66	CCDS12622.1	19																																																																																			-	NULL		0.697	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	protein_coding	OTTHUMT00000463184.1	G	NM_014297			44031264	-1	no_errors	ENST00000292147	ensembl	human	known	74_37	frame_shift_del	DEL	0.785	-	-	44031264	G	-	44031264	7	5	117	1	0	1	0	1	0	0	0	0	5274	1335	47	0	726	0	ETHE1	19	44031264	Frame_Shift_Del	DEL	G	TCGA-DX-AB2L-01A-32D-A417-09	39089659	44031264	15097719	27	8770											
SLC13A3	64849	genome.wustl.edu	37	chr20	45228619	45228619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaacttacgcttctgtgCtggcgagaaactgcatctcc	9	12	2	1			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr20:45228619C>T	ENST00000279027.4	-	4	617	c.599G>A	c.(598-600)aGc>aAc	p.S200N	SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000396360.1_Missense_Mutation_p.S153N|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.S153N|SLC13A3_ENST00000290317.5_Missense_Mutation_p.S153N|SLC13A3_ENST00000495082.1_Missense_Mutation_p.S153N	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	200					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CGCTTCTGTGCTGGCGAGAAA	0.463																																																	0								ENSG00000158296						159	145	150					20																	45228619		2203	4300	6503	SLC13A3	SO:0001583	missense	0			-	HGNC	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.599G>A	20.37:g.45228619C>T	ENSP00000279027:p.Ser200Asn	Somatic	0	33	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.S200N	ENST00000279027.4	37	c.599	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	C	4.977	0.181534	0.09495	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915	T;T;T;T;T;T	0.06608	3.86;3.85;4.12;3.85;3.86;3.28	5.34	3.42	0.39159	.	1.005140	0.07997	N	0.988174	T	0.05181	0.0138	N	0.25286	0.73	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.002;0.004;0.004	T	0.28267	-1.0049	10	0.18276	T	0.48	-5.8184	8.3273	0.32165	0.0:0.7594:0.0:0.2406	.	153;153;200	Q8WWT9-3;F6WI18;Q8WWT9	.;.;S13A3_HUMAN	N	153;153;200;153;153;153	ENSP00000290317:S153N;ENSP00000379648:S153N;ENSP00000279027:S200N;ENSP00000420177:S153N;ENSP00000419621:S153N;ENSP00000417784:S153N	ENSP00000279027:S200N	S	-	2	0	SLC13A3	44662026	1.000000	0.71417	0.931000	0.37212	0.462000	0.32619	2.276000	0.43408	0.641000	0.30601	-0.277000	0.10078	AGC	-	pfam_Na/sul_symport		0.463	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	protein_coding	OTTHUMT00000080329.2	C		-		45228619	-1	no_errors	ENST00000279027	ensembl	human	known	74_37	missense	SNP	0.988	T	T	45228619	C	T	45228619	3	4	117	1	0	0	0	0	1	0	0	0	14401	797	28	2	1249	2	SLC13A3	20	45228619	Missense_Mutation	SNP	C	TCGA-DX-AB2L-01A-32D-A417-09		45228619	17796901	28	8771											
CCDC157	550631	genome.wustl.edu	37	chr22	30769639	30769639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctggacagcctggaccaGgaacgtgaggagctgcgggg	18	10	0	1			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr22:30769639G>T	ENST00000405659.1	+	8	2098	c.1389G>T	c.(1387-1389)caG>caT	p.Q463H	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.Q463H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	463										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GCCTGGACCAGGAACGTGAGG	0.672																																																	0								ENSG00000187860						17	17	17					22																	30769639		2192	4277	6469	CCDC157	SO:0001583	missense	0			-	HGNC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1389G>T	22.37:g.30769639G>T	ENSP00000385357:p.Gln463His	Somatic	0	46	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q0VD76|Q9BYA4	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_t-SNARE	p.Q463H	ENST00000405659.1	37	c.1389	CCDS33632.2	22	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531534	0.64972	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.39056	1.1;1.1	4.49	2.29	0.28610	.	0.059605	0.64402	D	0.000002	T	0.57695	0.2071	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.61431	-0.7064	10	0.72032	D	0.01	-21.7751	11.374	0.49717	0.1663:0.0:0.8337:0.0	.	463	Q569K6	CC157_HUMAN	H	463	ENSP00000385357:Q463H;ENSP00000343087:Q463H	ENSP00000343087:Q463H	Q	+	3	2	CCDC157	29099639	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.330000	0.43885	1.112000	0.41740	0.561000	0.74099	CAG	-	NULL		0.672	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	protein_coding	OTTHUMT00000320936.1	G	NM_001017437	-		30769639	1	no_errors	ENST00000338306	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30769639	G	T	30769639	3	4	117	1	0	0	0	0	1	0	0	0	2791	991	35	3	1411	3	CCDC157	22	30769639	Missense_Mutation	SNP	G	TCGA-DX-AB2L-01A-32D-A417-09		30769639	20534927	29	8772											
TRABD	80305	genome.wustl.edu	37	chr22	50635954	50635954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagagggccatcgcagCgctctccttctggcagaagg	12	13	3	2			TCGA-DX-AB2L-01A-32D-A417-09	TCGA-DX-AB2L-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51b936bb-a69b-4ab5-81d6-542886686ed7	95900dfa-7dfd-4dfb-b86d-6d47974ffa61	g.chr22:50635954C>T	ENST00000303434.4	+	7	727	c.608C>T	c.(607-609)gCg>gTg	p.A203V	TRABD_ENST00000395827.1_Missense_Mutation_p.A203V|TRABD_ENST00000380909.4_Missense_Mutation_p.A203V|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395829.1_Missense_Mutation_p.A203V	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	203										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GCCATCGCAGCGCTCTCCTTC	0.662																																																	0								ENSG00000170638						73	72	73					22																	50635954		2203	4300	6503	TRABD	SO:0001583	missense	0			-	HGNC	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.608C>T	22.37:g.50635954C>T	ENSP00000305664:p.Ala203Val	Somatic	0	64	0		0.565059342401059				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP							pfam_Pheromone_shutdown_TraB	p.A203V	ENST00000303434.4	37	c.608	CCDS14086.1	22	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965936	0.74131	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	.	.	.	5.21	5.21	0.72293	.	0.051129	0.85682	D	0.000000	D	0.82747	0.5104	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.77004	0.862;0.989	T	0.82908	-0.0224	9	0.41790	T	0.15	-41.0883	18.7472	0.91797	0.0:1.0:0.0:0.0	.	157;203	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	V	203	.	ENSP00000305664:A203V	A	+	2	0	TRABD	48978081	1.000000	0.71417	0.025000	0.17156	0.002000	0.02628	7.135000	0.77276	2.427000	0.82271	0.561000	0.74099	GCG	-	pfam_Pheromone_shutdown_TraB		0.662	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRABD	protein_coding	OTTHUMT00000316987.1	C	NM_025204	-		50635954	1	no_errors	ENST00000303434	ensembl	human	known	74_37	missense	SNP	0.998	T	T	50635954	C	T	50635954	3	4	117	1	0	0	0	0	1	0	0	0	16442	768	27	1	630	1	TRABD	22	50635954	Missense_Mutation	SNP	C	TCGA-DX-AB2L-01A-32D-A417-09	19866315	50635954	668612	30	8773											
TRIM46	80128	genome.wustl.edu	37	chr1	155150521	155150521	+	Frame_Shift_Del	DEL	G	G	-													ggaggtgtcgcagctggtgcGggggctgggggctgtgctgg					rs369659260		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr1:155150521delG	ENST00000334634.4	+	6	953	c.953delG	c.(952-954)cggfs	p.R318fs	TRIM46_ENST00000368385.4_Frame_Shift_Del_p.R318fs|TRIM46_ENST00000543729.1_Frame_Shift_Del_p.R325fs|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Frame_Shift_Del_p.R318fs|TRIM46_ENST00000392451.2_Frame_Shift_Del_p.R318fs|TRIM46_ENST00000545012.1_Frame_Shift_Del_p.R192fs|TRIM46_ENST00000368382.1_Frame_Shift_Del_p.R295fs|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	318						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCTGGTGCGGGGGCTGGGG	0.617																																																	0								ENSG00000163462						34	35	34					1																	155150521		2203	4300	6503	TRIM46	SO:0001589	frameshift_variant	0				HGNC		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.953delG	1.37:g.155150521delG	ENSP00000334657:p.Arg318fs	Somatic	0	38	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	20	56.52	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Frame_Shift_Del	DEL							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.L320fs	ENST00000334634.4	37	c.953	CCDS1097.1	1																																																																																			-	NULL		0.617	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	protein_coding	OTTHUMT00000086728.1	G	NM_025058			155150521	1	no_errors	ENST00000334634	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	155150521	G	-	155150521	7	5	118	1	0	1	0	1	0	0	0	0	16528	1116	39	0	975	0	TRIM46	1	155150521	Frame_Shift_Del	DEL	G	TCGA-DX-AB2O-01A-12D-A38Z-09		155150521	94100100	1	8774											
NTRK1	4914	genome.wustl.edu	37	chr1	156837905	156837905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccccccagggtcctgtcGgggaaccctctgcactgttc	11	16	1	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr1:156837905G>A	ENST00000524377.1	+	5	479	c.438G>A	c.(436-438)tcG>tcA	p.S146S	NTRK1_ENST00000358660.3_Silent_p.S146S|NTRK1_ENST00000368196.3_Silent_p.S146S|NTRK1_ENST00000392302.2_Silent_p.S116S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	146					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGGTCCTGTCGGGGAACCCTC	0.632			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0								ENSG00000198400						64	71	68					1																	156837905		2203	4300	6503	NTRK1	SO:0001819	synonymous_variant	0			-	HGNC	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.438G>A	1.37:g.156837905G>A		Somatic	0	18	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.S146	ENST00000524377.1	37	c.438	CCDS1161.1	1																																																																																			-	NULL		0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	protein_coding	OTTHUMT00000392279.1	G	NM_002529	-		156837905	1	no_errors	ENST00000524377	ensembl	human	known	74_37	silent	SNP	0.018	A	A	156837905	G	A	156837905	2	1	118	1	0	0	0	0	0	0	0	1	10708	1103	39	1		1	NTRK1	1	156837905	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	1687384	156837905	92412716	2	8775											
OR10J3	441911	genome.wustl.edu	37	chr1	159283694	159283694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggaggcacagccataGtggatgatgaccactgtgag	14	7	0	4	rs532378990		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr1:159283694G>A	ENST00000332217.5	-	1	755	c.756C>T	c.(754-756)caC>caT	p.H252H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CACAGCCATAGTGGATGATGA	0.527													G|||	1	0.000199681	0	0	5008	,	,		21806	0.001		0	False		,,,				2504	0																0								ENSG00000196266						132	114	120					1																	159283694		2203	4300	6503	OR10J3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.756C>T	1.37:g.159283694G>A		Somatic	0	25	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H252	ENST00000332217.5	37	c.756	CCDS30909.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	protein_coding	OTTHUMT00000090629.1	G		-		159283694	-1	no_errors	ENST00000332217	ensembl	human	known	74_37	silent	SNP	0.996	A	A	159283694	G	A	159283694	2	1	118	1	0	0	0	0	0	0	0	1	10913	1020	36	2		2	OR10J3	1	159283694	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	2445789	159283694	89966927	3	8776											
FAM5B	57795	genome.wustl.edu	37	chr1	177247899	177247899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgctgccatcgccagcctCgcttccgcctgcccaaggag	11	18	0	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr1:177247899C>T	ENST00000361539.4	+	7	1525	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	405					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)	extracellular region (GO:0005576)											TCGCCAGCCTCGCTTCCGCCT	0.617																																																	0								ENSG00000198797						48	49	49					1																	177247899		2203	4300	6503	BRINP2	SO:0001583	missense	0			-	HGNC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1213C>T	1.37:g.177247899C>T	ENSP00000354481:p.Arg405Cys	Somatic	0	39	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.R405C	ENST00000361539.4	37	c.1213	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491448	0.64074	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15017	2.46	5.39	5.39	0.77823	.	0.234993	0.44285	D	0.000461	T	0.29389	0.0732	L	0.40543	1.245	0.50813	D	0.999896	D;D;D	0.71674	0.998;0.998;0.979	P;P;B	0.55785	0.731;0.784;0.252	T	0.01015	-1.1480	10	0.62326	D	0.03	-20.273	18.7504	0.91812	0.0:1.0:0.0:0.0	.	155;300;405	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	C	155;405	ENSP00000354481:R405C	ENSP00000354481:R405C	R	+	1	0	FAM5B	175514522	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	2.930000	0.48924	2.528000	0.85240	0.655000	0.94253	CGC	-	NULL		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	protein_coding	OTTHUMT00000084599.1	C	NM_021165	-		177247899	1	no_errors	ENST00000361539	ensembl	human	known	74_37	missense	SNP	0.997	T	T	177247899	C	T	177247899	3	4	118	1	0	0	0	0	1	0	0	0	5595	884	31	1	1235	1	FAM5B	1	177247899	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	17964205	177247899	72002722	4	8777											
DNMT3A	1788	genome.wustl.edu	37	chr2	25469969	25469976	+	Frame_Shift_Del	DEL	GTGGCCTG	GTGGCCTG	-													acatgggctgcttgttgtacGtggcctggtggaacgcactg							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	GTGGCCTG	GTGGCCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr2:25469969_25469976delGTGGCCTG	ENST00000264709.3	-	9	1403_1410	c.1066_1073delCAGGCCAC	c.(1066-1074)caggccacgfs	p.QAT356fs	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.QAT167fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.QAT133fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.QAT356fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	356	Interaction with DNMT1 and DNMT3B.				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)					CTTGTTGTACGTGGCCTGGTGGAACGCA	0.591			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0								ENSG00000119772																																			DNMT3A	SO:0001589	frameshift_variant	0				HGNC		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.1066_1073delCAGGCCAC	2.37:g.25469969_25469976delGTGGCCTG	ENSP00000264709:p.Gln356fs	Somatic					0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1				E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.Q356fs	ENST00000264709.3	37	c.1073_1066	CCDS33157.1	2																																																																																			-	pfam_PWWP_dom		0.591	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	GTGGCCTG	NM_022552			25469976	-1	no_errors	ENST00000264709	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	25469976	GTGGCCTG	-	25469969	7	5	118	1	0	1	0	1	0	0	0	0	4678	1145	40	0	1725	0	DNMT3A	2	25469969	Frame_Shift_Del	DEL	GTGGCCTG	TCGA-DX-AB2O-01A-12D-A38Z-09		25469969	217729404	5	8778											
ZAP70	7535	genome.wustl.edu	37	chr2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccccctccccaggcccGctcagcagggaagtggccgc	11	19	2	0	rs150631046		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627																																																	0								ENSG00000115085	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78	88	85		1487,566	5.2	1	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZAP70	NM_001079.3,NM_207519.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	496/620,189/313	98354224	1,13005	2203	4300	6503	ZAP70	SO:0001583	missense	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1487G>A	2.37:g.98354224G>A	ENSP00000264972:p.Arg496His	Somatic	0	18	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	36.67	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R496H	ENST00000264972.5	37	c.1487	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206886	0.79127	0.0	1.16E-4	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83250	-1.7;-1.7;-1.7	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.80839	0.4700	N	0.24115	0.695	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	P;D	0.62955	0.864;0.909	T	0.75371	-0.3341	10	0.15952	T	0.53	.	10.1268	0.42654	0.0915:0.0:0.9085:0.0	.	370;496	P43403-3;P43403	.;ZAP70_HUMAN	H	496;370;189	ENSP00000264972:R496H;ENSP00000411141:R370H;ENSP00000400475:R189H	ENSP00000264972:R496H	R	+	2	0	ZAP70	97720656	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.334000	0.72944	2.610000	0.88304	0.655000	0.94253	CGC	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	G		rs150631046		98354224	1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98354224	G	A	98354224	3	1	118	1	0	0	0	0	1	0	0	0	17521	1087	38	1	1525	1	ZAP70	2	98354224	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	72884255	98354224	144845149	6	8779											
SESTD1	91404	genome.wustl.edu	37	chr2	180056558	180056558	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagaatgggtaatattactGaggcctccattttactccag	8	9	1	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr2:180056558G>A	ENST00000428443.3	-	2	327	c.11C>T	c.(10-12)tCa>tTa	p.S4L	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	4	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TAATATTACTGAGGCCTCCAT	0.308																																																	0								ENSG00000187231						74	73	73					2																	180056558		2203	4297	6500	SESTD1	SO:0001583	missense	0			-	HGNC	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.11C>T	2.37:g.180056558G>A	ENSP00000415332:p.Ser4Leu	Somatic	1	140	0.71		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	1802	185	90.55	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP							superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S4L	ENST00000428443.3	37	c.11	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242876	0.58995	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.13420	3.48;2.59;2.59	5.83	5.83	0.93111	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.195368	0.45126	D	0.000398	T	0.08403	0.0209	N	0.08118	0	0.49051	D	0.999742	B	0.24186	0.099	B	0.18871	0.023	T	0.37502	-0.9703	9	.	.	.	-13.6034	18.2945	0.90140	0.0:0.0:1.0:0.0	.	4	Q86VW0	SESD1_HUMAN	L	4	ENSP00000415332:S4L;ENSP00000416164:S4L;ENSP00000410286:S4L	.	S	-	2	0	SESTD1	179764803	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.720000	0.68470	2.763000	0.94921	0.585000	0.79938	TCA	-	pfscan_CRAL-TRIO_dom		0.308	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	protein_coding	OTTHUMT00000335916.2	G	NM_178123	-		180056558	-1	no_errors	ENST00000428443	ensembl	human	known	74_37	missense	SNP	0.998	A	A	180056558	G	A	180056558	3	1	118	1	0	0	0	0	1	0	0	0	14135	1294	45	2	2147	2	SESTD1	2	180056558	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	81702334	180056558	63142815	7	8780											
ALS2CR4	65062	genome.wustl.edu	37	chr2	202488979	202488979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaggtgagctggtatTatgaagaggctttgatttct	11	6	1	4			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr2:202488979T>C	ENST00000409883.2	-	13	1342	c.1226A>G	c.(1225-1227)tAa>tGa	p.*409*	TMEM237_ENST00000409444.2_Silent_p.*401*	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	0					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GAGCTGGTATTATGAAGAGGC	0.313																																																	0								ENSG00000155755						118	113	115					2																	202488979		1803	4075	5878	TMEM237	SO:0001819	synonymous_variant	0			-	HGNC	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.1226A>G	2.37:g.202488979T>C		Somatic	0	71	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	18	57.14	B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Silent	SNP							NULL	p.*409	ENST00000409883.2	37	c.1226	CCDS46489.1	2																																																																																			-	NULL		0.313	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	protein_coding	OTTHUMT00000335753.1	T	NM_152388	-		202488979	-1	no_errors	ENST00000409883	ensembl	human	known	74_37	silent	SNP	0.373	C	C	202488979	T	C	202488979	2	2	118	1	0	0	0	0	0	0	0	1	554	1761	61	5		5	ALS2CR4	2	202488979	Silent	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09	22432421	202488979	40710394	8	8781											
SPHKAP	80309	genome.wustl.edu	37	chr2	228973608	228973608	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcagggcatcctctgattCtgcaaccagtagtctgttga	11	10	3	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr2:228973608C>T	ENST00000392056.3	-	3	232	c.186G>A	c.(184-186)caG>caA	p.Q62Q	SPHKAP_ENST00000344657.5_Silent_p.Q62Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	62						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)		TCCTCTGATTCTGCAACCAGT	0.428																																																	0								ENSG00000153820						85	86	86					2																	228973608		2203	4300	6503	SPHKAP	SO:0001819	synonymous_variant	0			-	HGNC		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.186G>A	2.37:g.228973608C>T		Somatic	0	64	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP							pfam_AKAP_110_C	p.Q62	ENST00000392056.3	37	c.186	CCDS46537.1	2																																																																																			-	NULL		0.428	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	C	NM_030623	-		228973608	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	SNP	1.000	T	T	228973608	C	T	228973608	2	4	118	1	0	0	0	0	0	0	0	1	15055	912	32	2		2	SPHKAP	2	228973608	Silent	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	26484629	228973608	14225765	9	8782											
NISCH	11188	genome.wustl.edu	37	chr3	52506398	52506398	+	Frame_Shift_Del	DEL	C	C	-													cgacctatcaatattcaagtCcctgcatcaggtggaggtaa							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr3:52506398delC	ENST00000479054.1	+	7	725	c.653delC	c.(652-654)tccfs	p.S218fs	NISCH_ENST00000488380.1_Frame_Shift_Del_p.S218fs|NISCH_ENST00000420808.2_Frame_Shift_Del_p.S218fs|NISCH_ENST00000345716.4_Frame_Shift_Del_p.S218fs			Q9Y2I1	NISCH_HUMAN	nischarin	218	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATATTCAAGTCCCTGCATCAG	0.507											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000010322						105	98	101					3																	52506398		2203	4300	6503	NISCH	SO:0001589	frameshift_variant	0				HGNC	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.653delC	3.37:g.52506398delC	ENSP00000418232:p.Ser218fs	Somatic	0	55	0	985	0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Frame_Shift_Del	DEL							pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.L219fs	ENST00000479054.1	37	c.653	CCDS33767.1	3																																																																																			-	NULL		0.507	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	C	NM_007184			52506398	1	no_errors	ENST00000345716	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52506398	C	-	52506398	7	5	118	1	0	1	0	1	0	0	0	0	10434	855	30	0	675	0	NISCH	3	52506398	Frame_Shift_Del	DEL	C	TCGA-DX-AB2O-01A-12D-A38Z-09		52506398	145516032	10	8783	156	2									
NISCH	11188	genome.wustl.edu	37	chr3	52506402	52506407	+	In_Frame_Del	DEL	GCATCA	GCATCA	-													ctatcaatattcaagtccctGcatcaggtggaggtaaggcc							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	GCATCA	GCATCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr3:52506402_52506407delGCATCA	ENST00000479054.1	+	7	729_734	c.657_662delGCATCA	c.(655-663)ctgcatcag>ctg	p.HQ220del	NISCH_ENST00000488380.1_In_Frame_Del_p.HQ220del|NISCH_ENST00000420808.2_In_Frame_Del_p.HQ220del|NISCH_ENST00000345716.4_In_Frame_Del_p.HQ220del			Q9Y2I1	NISCH_HUMAN	nischarin	220	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCAAGTCCCTGCATCAGGTGGAGGTA	0.505											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000010322																																			NISCH	SO:0001651	inframe_deletion	0				HGNC	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.657_662delGCATCA	3.37:g.52506402_52506407delGCATCA	ENSP00000418232:p.His220_Gln221del	Somatic				985	0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1				C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	In_Frame_Del	DEL							pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.HQ220in_frame_del	ENST00000479054.1	37	c.657_662	CCDS33767.1	3																																																																																			-	NULL		0.505	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	GCATCA	NM_007184			52506407	1	no_errors	ENST00000345716	ensembl	human	known	74_37	in_frame_del	DEL	0.940:0.998:0.990:0.987:1.000:1.000	-	-	52506407	GCATCA	-	52506402	7	5	118	1	0	1	0	1	0	0	0	0	10434	1306	46	0	679	0	NISCH	3	52506402	In_Frame_Del	DEL	GCATCA	TCGA-DX-AB2O-01A-12D-A38Z-09	4	52506402	145516028	11	8784	156	2									
GATA2	2624	genome.wustl.edu	37	chr3	128199922	128199922	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggagaggctggaggaGgggtggatgggcgtcggagt	23	5	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr3:128199922G>C	ENST00000341105.2	-	6	1714	c.1383C>G	c.(1381-1383)ccC>ccG	p.P461P	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.P461P|GATA2_ENST00000430265.2_Silent_p.P447P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	461					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)		GGCTGGAGGAGGGGTGGATGG	0.682			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0								ENSG00000179348						51	50	51					3																	128199922		2203	4300	6503	GATA2	SO:0001819	synonymous_variant	0			-	HGNC	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.1383C>G	3.37:g.128199922G>C		Somatic	0	27	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP							pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P461	ENST00000341105.2	37	c.1383	CCDS3049.1	3																																																																																			-	pirsf_TF_GATA-1/2/3		0.682	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	protein_coding	OTTHUMT00000356925.1	G	NM_032638	-		128199922	-1	no_errors	ENST00000341105	ensembl	human	known	74_37	silent	SNP	0.967	C	C	128199922	G	C	128199922	2	2	118	1	0	0	0	0	0	0	0	1	6256	987	35	4		4	GATA2	3	128199922	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	75693520	128199922	69822508	12	8785											
SHOX2	6474	genome.wustl.edu	37	chr3	157820521	157820521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagttcctctcgcatgaaGgcgtcgggatagtgggtctc	13	11	3	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr3:157820521G>A	ENST00000425436.3	-	2	526	c.501C>T	c.(499-501)gcC>gcT	p.A167A	SHOX2_ENST00000441443.2_Silent_p.A38A|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Silent_p.A191A|SHOX2_ENST00000490689.2_Silent_p.A38A|SHOX2_ENST00000483851.2_Silent_p.A167A	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	167					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTCGCATGAAGGCGTCGGGAT	0.602																																																	0								ENSG00000168779						124	106	112					3																	157820521		2203	4300	6503	SHOX2	SO:0001819	synonymous_variant	0			-	HGNC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.501C>T	3.37:g.157820521G>A		Somatic	0	44	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	O60465|O60467|O60903	Silent	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.A191	ENST00000425436.3	37	c.573	CCDS43164.1	3	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595299	0.28445	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.49	0.283	0.15696	.	.	.	.	.	T	0.53384	0.1793	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42085	-0.9472	4	.	.	.	.	6.8386	0.23951	0.3457:0.1088:0.5455:0.0	.	.	.	.	F	71	.	.	L	-	1	0	SHOX2	159303215	0.998000	0.40836	0.997000	0.53966	0.985000	0.73830	0.404000	0.20999	-0.009000	0.14296	0.655000	0.94253	CTT	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.602	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHOX2	protein_coding	OTTHUMT00000352057.2	G		-		157820521	-1	no_errors	ENST00000389589	ensembl	human	known	74_37	silent	SNP	1.000	A	A	157820521	G	A	157820521	2	1	118	1	0	0	0	0	0	0	0	1	14297	987	35	2		2	SHOX2	3	157820521	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	29620599	157820521	40201909	13	8786											
YEATS2	55689	genome.wustl.edu	37	chr3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-													agcggtggaggcggcagcacAggaggaggaggaggaacagc							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr3:183493803_183493805delAGG	ENST00000305135.5	+	18	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	828	Gly-rich.				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)			gcggcagcacaggaggaggagga	0.601																																																	0								ENSG00000163872			11,3931		1,9,1961						1.8	0			64	13,8041		0,13,4014	no	coding	YEATS2	NM_018023.4		1,22,5975	A1A1,A1R,RR		0.1614,0.279,0.2001				24,11972				YEATS2	SO:0001651	inframe_deletion	0				HGNC	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.2469_2471delAGG	3.37:g.183493812_183493814delAGG	ENSP00000306983:p.Gly828del	Somatic	0	51	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	A7E2B9|D3DNS9|Q641P6|Q9NW96	In_Frame_Del	DEL							pfam_YEATS,pfscan_YEATS	p.G827in_frame_del	ENST00000305135.5	37	c.2469_2471	CCDS43175.1	3																																																																																			-	NULL		0.601	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	protein_coding	OTTHUMT00000346507.2	AGG	NM_018023			183493805	1	no_errors	ENST00000305135	ensembl	human	known	74_37	in_frame_del	DEL	0.002:0.003:0.002	-	-	183493805	AGG	-	183493803	7	5	118	1	0	1	0	1	0	0	0	0	17479	175	7	0	2535	0	YEATS2	3	183493803	In_Frame_Del	DEL	AGG	TCGA-DX-AB2O-01A-12D-A38Z-09	25673282	183493803	14528627	14	8787											
ENAM	10117	genome.wustl.edu	37	chr4	71509959	71509959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaacagctcagagaagaGggaaagccaaaaccctttta	9	8	1	3			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr4:71509959G>A	ENST00000396073.3	+	9	3097	c.2816G>A	c.(2815-2817)aGg>aAg	p.R939K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	939					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCAGAGAAGAGGGAAAGCCAA	0.453																																																	0								ENSG00000132464						107	101	103					4																	71509959		2203	4300	6503	ENAM	SO:0001583	missense	0			-	HGNC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2816G>A	4.37:g.71509959G>A	ENSP00000379383:p.Arg939Lys	Somatic	0	79	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q17RI5|Q9H3D1	Missense_Mutation	SNP							NULL	p.R939K	ENST00000396073.3	37	c.2816	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	G	0.956	-0.704765	0.03255	.	.	ENSG00000132464	ENST00000396073	T	0.28454	1.61	5.97	-2.42	0.06542	.	0.550558	0.17770	N	0.162631	T	0.24122	0.0584	M	0.63428	1.95	0.09310	N	1	B	0.16802	0.019	B	0.23419	0.046	T	0.23048	-1.0199	10	0.27785	T	0.31	-0.5229	5.5611	0.17144	0.0725:0.4188:0.3012:0.2076	.	939	Q9NRM1	ENAM_HUMAN	K	939	ENSP00000379383:R939K	ENSP00000379383:R939K	R	+	2	0	ENAM	71728823	0.001000	0.12720	0.334000	0.25495	0.051000	0.14879	-0.405000	0.07196	-0.383000	0.07858	-0.808000	0.03180	AGG	-	NULL		0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	G	NM_031889	-		71509959	1	no_errors	ENST00000396073	ensembl	human	known	74_37	missense	SNP	0.031	A	A	71509959	G	A	71509959	3	1	118	1	0	0	0	0	1	0	0	0	5114	1000	35	2	2846	2	ENAM	4	71509959	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		71509959	119644317	15	8788											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503386	140503386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	12	15	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr5:140503386G>A	ENST00000194152.1	+	1	1806	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	602	Cadherin 6. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.726																																																	0								ENSG00000081818						16	16	16					5																	140503386		2010	4020	6030	PCDHB4	SO:0001819	synonymous_variant	0			-	HGNC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1806G>A	5.37:g.140503386G>A		Somatic	0	99	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	74	32.73	Q4V761	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S602	ENST00000194152.1	37	c.1806	CCDS4246.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.726	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	G	NM_018938	-		140503386	1	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	SNP	0.998	A	A	140503386	G	A	140503386	2	1	118	1	0	0	0	0	0	0	0	1	11546	1132	40	1		1	PCDHB4	5	140503386	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		140503386	40411874	16	8789											
THSD7A	221981	genome.wustl.edu	37	chr7	11446546	11446546	+	Nonsense_Mutation	SNP	G	G	T													agatttgatacctgcacttgGcatggagaccactggccata							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:11446546G>T	ENST00000423059.4	-	21	4304	c.4053C>A	c.(4051-4053)tgC>tgA	p.C1351*	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1351	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGCACTTGGCATGGAGACC	0.448										HNSCC(18;0.044)																																							0								ENSG00000005108						72	71	71					7																	11446546		1941	4156	6097	THSD7A	SO:0001587	stop_gained	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4053C>A	7.37:g.11446546G>T	ENSP00000406482:p.Cys1351*	Somatic	0	41	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34		Nonsense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C1351*	ENST00000423059.4	37	c.4053	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	46	12.749061	0.99693	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	6.14	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.138	0.42719	0.2357:0.0:0.7643:0.0	.	.	.	.	X	1351	.	ENSP00000262042:C1351X	C	-	3	2	THSD7A	11413071	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.271000	0.43364	0.346000	0.23899	-0.142000	0.14014	TGC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.448	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2	-		11446546	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	11446546	G	T	11446546	4	4	118	1	0	0	0	0	0	1	0	0	15886	1195	42	3	952	3	THSD7A	7	11446546	Nonsense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		11446546	147692117	17	8790	157	2									
THSD7A	221981	genome.wustl.edu	37	chr7	11446555	11446555	+	Missense_Mutation	SNP	C	C	G													acctgcacttggcatggagaCcactggccatattgccaccg							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:11446555C>G	ENST00000423059.4	-	21	4295	c.4044G>C	c.(4042-4044)tgG>tgC	p.W1348C	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1348	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCATGGAGACCACTGGCCAT	0.478										HNSCC(18;0.044)																																							0								ENSG00000005108						76	75	75					7																	11446555		1954	4162	6116	THSD7A	SO:0001583	missense	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4044G>C	7.37:g.11446555C>G	ENSP00000406482:p.Trp1348Cys	Somatic	0	43	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W1348C	ENST00000423059.4	37	c.4044	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187762	0.78789	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.77489	-1.1	6.14	6.14	0.99180	.	0.104231	0.64402	D	0.000001	D	0.89491	0.6730	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89243	0.3585	10	0.87932	D	0	.	20.8597	0.99761	0.0:1.0:0.0:0.0	.	1348	Q9UPZ6	THS7A_HUMAN	C	1348	ENSP00000406482:W1348C	ENSP00000262042:W1348C	W	-	3	0	THSD7A	11413080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.937000	0.99478	0.650000	0.86243	TGG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2	-		11446555	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	SNP	1.000	G	G	11446555	C	G	11446555	3	3	118	1	0	0	0	0	1	0	0	0	15886	508	18	4	961	4	THSD7A	7	11446555	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	9	11446555	147692108	18	8791	157	2									
DNAH11	8701	genome.wustl.edu	37	chr7	21600753	21600753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaacaaagcagctattttcCtactctgaaggacatttttc	5	9	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:21600753C>A	ENST00000409508.3	+	5	978	c.947C>A	c.(946-948)cCt>cAt	p.P316H	DNAH11_ENST00000328843.6_Missense_Mutation_p.P316H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	316	Stem. {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						AGCTATTTTCCTACTCTGAAG	0.408									Kartagener syndrome																																								0								ENSG00000105877						62	60	61					7																	21600753		1904	4138	6042	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.947C>A	7.37:g.21600753C>A	ENSP00000475939:p.Pro316His	Somatic	0	107	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	68	49.63	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P316H	ENST00000409508.3	37	c.947		7	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863579	0.71949	.	.	ENSG00000105877	ENST00000328843	T	0.55930	0.49	5.22	5.22	0.72569	Dynein heavy chain, domain-1 (1);	0.217157	0.38897	N	0.001522	T	0.76407	0.3983	M	0.86502	2.82	0.46954	D	0.999262	D	0.89917	1.0	D	0.72982	0.979	T	0.79557	-0.1754	10	0.52906	T	0.07	.	17.9201	0.88963	0.0:1.0:0.0:0.0	.	316	Q96DT5	DYH11_HUMAN	H	316	ENSP00000330671:P316H	ENSP00000330671:P316H	P	+	2	0	DNAH11	21567278	0.997000	0.39634	0.976000	0.42696	0.919000	0.55068	3.022000	0.49659	2.558000	0.86282	0.655000	0.94253	CCT	-	pfam_Dynein_heavy_dom-1		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	C	NM_003777	-		21600753	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21600753	C	A	21600753	3	1	118	1	0	0	0	0	1	0	0	0	4601	681	24	3	965	3	DNAH11	7	21600753	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	10154198	21600753	137537910	19	8792											
MUC17	140453	genome.wustl.edu	37	chr7	100681044	100681044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacgccggtggccaGtcctgaggctagcacccttt	11	16	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:100681044G>T	ENST00000306151.4	+	3	6411	c.6347G>T	c.(6346-6348)aGt>aTt	p.S2116I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2116	59 X approximate tandem repeats.|Ser-rich.				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)					CCGGTGGCCAGTCCTGAGGCT	0.498																																																	0								ENSG00000169876						215	219	217					7																	100681044		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.6347G>T	7.37:g.100681044G>T	ENSP00000302716:p.Ser2116Ile	Somatic	0	67	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S2116I	ENST00000306151.4	37	c.6347	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.474	-0.883070	0.02530	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.942	-1.88	0.07713	.	.	.	.	.	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	P	0.36222	0.544	B	0.25884	0.064	T	0.44877	-0.9299	9	0.40728	T	0.16	.	3.702	0.08386	0.0:0.3847:0.3909:0.2244	.	2116	Q685J3	MUC17_HUMAN	I	2116	ENSP00000302716:S2116I	ENSP00000302716:S2116I	S	+	2	0	MUC17	100467764	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.783000	0.01770	-0.987000	0.03494	0.134000	0.15878	AGT	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105	-		100681044	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	T	T	100681044	G	T	100681044	3	4	118	1	0	0	0	0	1	0	0	0	9976	1029	36	3	6357	3	MUC17	7	100681044	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	79080291	100681044	58457619	20	8793											
GPR37	2861	genome.wustl.edu	37	chr7	124387397	124387397	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactcccagagaagcgaCctgtgggggaacatagaaga	15	8	0	4			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:124387397C>A	ENST00000303921.2	-	2	1674	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	342					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAGAAGCGACCTGTGGGGGA	0.448																																																	0								ENSG00000170775						49	51	50					7																	124387397		2203	4300	6503	GPR37	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1024-1G>T	7.37:g.124387397C>A		Somatic	0	48	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	17	61.36	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.V342F	ENST00000303921.2	37	c.1024	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950996	0.34471	.	.	ENSG00000170775	ENST00000303921	T	0.74315	-0.83	5.77	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.098140	0.43260	D	0.000589	D	0.83885	0.5351	M	0.78916	2.43	0.54753	D	0.999986	D	0.71674	0.998	D	0.72982	0.979	D	0.84722	0.0740	10	0.66056	D	0.02	-18.798	8.8001	0.34903	0.1511:0.7746:0.0:0.0743	.	342	O15354	GPR37_HUMAN	F	342	ENSP00000306449:V342F	ENSP00000306449:V342F	V	-	1	0	GPR37	124174633	1.000000	0.71417	0.888000	0.34837	0.009000	0.06853	6.091000	0.71406	1.423000	0.47198	-0.182000	0.12963	GTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	protein_coding	OTTHUMT00000347873.1	C	NM_005302	-	Missense_Mutation	124387397	-1	no_errors	ENST00000303921	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124387397	C	A	124387397	5	1	118	1	0	0	0	0	0	0	1	0	6693	521	18	3	821	3	GPR37	7	124387397	Splice_Site	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	23706353	124387397	34751266	21	8794											
FLNC	2318	genome.wustl.edu	37	chr7	128490892	128490892	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcggggaagacggcacggCccaacatcaccgacaacaag	11	15	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:128490892C>G	ENST00000325888.8	+	33	5695	c.5434C>G	c.(5434-5436)Ccc>Gcc	p.P1812A	FLNC_ENST00000346177.6_Missense_Mutation_p.P1779A|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1812					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						GACGGCACGGCCCAACATCAC	0.602																																																	0								ENSG00000128591						105	112	109					7																	128490892		2166	4233	6399	FLNC	SO:0001583	missense	0			-	HGNC	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.5434C>G	7.37:g.128490892C>G	ENSP00000327145:p.Pro1812Ala	Somatic	0	20	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P1812A	ENST00000325888.8	37	c.5434	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137117	0.56936	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.83837	-1.77;-1.77	5.34	5.34	0.76211	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	N	0.17594	0.5	0.80722	D	1	P;B	0.35481	0.504;0.019	B;B	0.43950	0.437;0.206	T	0.74318	-0.3704	10	0.19590	T	0.45	.	19.0452	0.93016	0.0:1.0:0.0:0.0	.	1779;1812	Q14315-2;Q14315	.;FLNC_HUMAN	A	1812;1779	ENSP00000327145:P1812A;ENSP00000344002:P1779A	ENSP00000327145:P1812A	P	+	1	0	FLNC	128278128	1.000000	0.71417	0.974000	0.42286	0.778000	0.44026	6.049000	0.71053	2.479000	0.83701	0.655000	0.94253	CCC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C		-		128490892	1	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	SNP	1.000	G	G	128490892	C	G	128490892	3	3	118	1	0	0	0	0	1	0	0	0	5937	739	26	4	5564	4	FLNC	7	128490892	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	4103495	128490892	30647771	22	8795											
NOS3	4846	genome.wustl.edu	37	chr7	150698651	150698651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagacccctggaaggggaGtgccgccaagggcaccggca	16	14	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr7:150698651G>A	ENST00000484524.1	+	11	1448	c.1448G>A	c.(1447-1449)aGt>aAt	p.S483N	NOS3_ENST00000297494.3_Missense_Mutation_p.S483N|NOS3_ENST00000467517.1_Missense_Mutation_p.S483N|NOS3_ENST00000461406.1_Missense_Mutation_p.S277N	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAAGGGGAGTGCCGCCAAG	0.602																																																	0								ENSG00000164867						124	149	141					7																	150698651		2203	4300	6503	NOS3	SO:0001583	missense	0			-	HGNC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1448G>A	7.37:g.150698651G>A	ENSP00000420215:p.Ser483Asn	Somatic	0	68	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q495E5	Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S483N	ENST00000484524.1	37	c.1448	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461558	0.26248	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.19	2.23	0.28157	Nitric oxide synthase, oxygenase domain (2);	0.549920	0.17463	N	0.173377	T	0.08223	0.0205	N	0.03608	-0.345	0.20489	N	0.999894	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.001;0.002	B;B;B;B;B	0.16722	0.004;0.006;0.008;0.01;0.016	T	0.19321	-1.0309	10	0.72032	D	0.01	0.4377	3.9498	0.09364	0.2905:0.1986:0.5109:0.0	.	483;483;483;277;483	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	N	483;277;483;483	ENSP00000297494:S483N;ENSP00000417143:S277N;ENSP00000420215:S483N;ENSP00000420551:S483N	ENSP00000297494:S483N	S	+	2	0	NOS3	150329584	0.463000	0.25799	0.183000	0.23137	0.697000	0.40408	3.439000	0.52878	1.184000	0.42957	-0.140000	0.14226	AGT	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.602	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000351550.1	G	NM_000603	-		150698651	1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	SNP	0.424	A	A	150698651	G	A	150698651	3	1	118	1	0	0	0	0	1	0	0	0	10546	1029	36	2	1490	2	NOS3	7	150698651	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	22207759	150698651	8440012	23	8796											
MCPH1	79648	genome.wustl.edu	37	chr8	6302980	6302980	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctctgaaggcgaagcccaGagtgaacatgagccatgttt	11	10	1	4			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr8:6302980G>T	ENST00000344683.5	+	8	1813	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	MCPH1_ENST00000519480.1_Missense_Mutation_p.Q579H|MCPH1_ENST00000522905.1_Missense_Mutation_p.Q531H	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	579					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GCGAAGCCCAGAGTGAACATG	0.428																																					Colon(95;1448 1467 8277 34473 35819)												0								ENSG00000147316						64	58	60					8																	6302980		1880	4108	5988	MCPH1	SO:0001583	missense	0			-	HGNC	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1737G>T	8.37:g.6302980G>T	ENSP00000342924:p.Gln579His	Somatic	0	67	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP							pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.Q579H	ENST00000344683.5	37	c.1737	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056436	0.19907	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10763	2.84;2.84;2.84	4.74	-9.48	0.00591	.	1.693500	0.02992	N	0.146939	T	0.13841	0.0335	L	0.38531	1.155	0.09310	N	1	P;B;D	0.54207	0.773;0.001;0.965	P;B;P	0.58013	0.739;0.012;0.831	T	0.37526	-0.9702	10	0.17369	T	0.5	-0.0119	9.157	0.36998	0.1648:0.3206:0.5145:0.0	.	531;579;579	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	H	579;579;531	ENSP00000342924:Q579H;ENSP00000430962:Q579H;ENSP00000430768:Q531H	ENSP00000342924:Q579H	Q	+	3	2	MCPH1	6290388	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.720000	0.04969	-1.586000	0.01632	-0.302000	0.09304	CAG	-	pfam_Microcephalin		0.428	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	protein_coding	OTTHUMT00000374532.2	G	NM_024596	-		6302980	1	no_errors	ENST00000344683	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6302980	G	T	6302980	3	4	118	1	0	0	0	0	1	0	0	0	9400	933	33	3	1767	3	MCPH1	8	6302980	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		6302980	140061042	24	8797											
ST18	9705	genome.wustl.edu	37	chr8	53073948	53073948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttacattcaggaaatggTggtgtttttcgtccttgcac	10	8	1	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr8:53073948T>C	ENST00000276480.7	-	14	2264	c.1581A>G	c.(1579-1581)ccA>ccG	p.P527P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	527					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGGAAATGGTGGTGTTTTTC	0.443																																																	0								ENSG00000147488						180	175	176					8																	53073948		2203	4300	6503	ST18	SO:0001819	synonymous_variant	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1581A>G	8.37:g.53073948T>C		Somatic	0	64	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	60	25.00	Q17RY1	Silent	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.P527	ENST00000276480.7	37	c.1581	CCDS6149.1	8																																																																																			-	pfam_Myelin_TF		0.443	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	T		-		53073948	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	silent	SNP	0.999	C	C	53073948	T	C	53073948	2	2	118	1	0	0	0	0	0	0	0	1	15219	1683	59	5		5	ST18	8	53073948	Silent	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09	46770968	53073948	93290074	25	8798											
ABRA	137735	genome.wustl.edu	37	chr8	107781809	107781809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactccatcctgctcggGcctctcctcagcctctcctc	6	21	3	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr8:107781809G>C	ENST00000311955.3	-	1	664	c.610C>G	c.(610-612)Ccc>Gcc	p.P204A		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCCTGCTCGGGCCTCTCCTCA	0.587																																																	0								ENSG00000174429						181	183	182					8																	107781809		2203	4300	6503	ABRA	SO:0001583	missense	0			-	HGNC	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.610C>G	8.37:g.107781809G>C	ENSP00000311436:p.Pro204Ala	Somatic	0	24	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	23	48.89		Missense_Mutation	SNP							NULL	p.P204A	ENST00000311955.3	37	c.610	CCDS6305.1	8	.	.	.	.	.	.	.	.	.	.	G	0.414	-0.911875	0.02434	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	3.09	0.35607	.	0.599517	0.18720	N	0.133032	T	0.39489	0.1080	L	0.57536	1.79	0.30029	N	0.813625	B	0.02656	0.0	B	0.04013	0.001	T	0.34850	-0.9812	9	0.14656	T	0.56	-11.1857	9.6094	0.39654	0.0722:0.3224:0.6054:0.0	.	204	Q8N0Z2	ABRA_HUMAN	A	204	.	ENSP00000311436:P204A	P	-	1	0	ABRA	107850985	0.008000	0.16893	0.893000	0.35052	0.270000	0.26580	0.496000	0.22499	0.811000	0.34303	0.655000	0.94253	CCC	-	NULL		0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	protein_coding	OTTHUMT00000380416.1	G	NM_139166	-		107781809	-1	no_errors	ENST00000311955	ensembl	human	known	74_37	missense	SNP	0.853	C	C	107781809	G	C	107781809	3	2	118	1	0	0	0	0	1	0	0	0	100	1203	42	4	543	4	ABRA	8	107781809	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	54707861	107781809	38582213	26	8799											
C9orf79	286234	genome.wustl.edu	37	chr9	90502475	90502475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgctcagcatagggtccCagtgggcaagggctgaagat	15	8	1	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr9:90502475C>A	ENST00000325643.5	+	4	3139	c.3073C>A	c.(3073-3075)Cag>Aag	p.Q1025K		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1025					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATAGGGTCCCAGTGGGCAAG	0.592																																																	0								ENSG00000177992						42	45	44					9																	90502475		2203	4300	6503	SPATA31E1	SO:0001583	missense	0			-	HGNC	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3073C>A	9.37:g.90502475C>A	ENSP00000322640:p.Gln1025Lys	Somatic	0	59	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	53	26.39	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP							NULL	p.Q1025K	ENST00000325643.5	37	c.3073	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	c	12.26	1.883688	0.33255	.	.	ENSG00000177992	ENST00000325643	T	0.03441	3.93	2.26	1.32	0.21799	.	2.705830	0.01639	N	0.023933	T	0.04003	0.0112	L	0.27053	0.805	0.09310	N	1	P	0.36837	0.571	B	0.42522	0.39	T	0.42548	-0.9445	10	0.05351	T	0.99	.	6.1184	0.20139	0.3018:0.6982:0.0:0.0	.	1025	Q6ZUB1	CI079_HUMAN	K	1025	ENSP00000322640:Q1025K	ENSP00000322640:Q1025K	Q	+	1	0	C9orf79	89692295	0.002000	0.14202	0.008000	0.14137	0.007000	0.05969	-0.626000	0.05527	0.500000	0.27991	0.557000	0.71058	CAG	-	NULL		0.592	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	protein_coding	OTTHUMT00000052954.2	C	NM_178828	-		90502475	1	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	SNP	0.007	A	A	90502475	C	A	90502475	3	1	118	1	0	0	0	0	1	0	0	0	2499	595	21	3	3087	3	C9orf79	9	90502475	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		90502475	50710956	27	8800											
GOLGA1	2800	genome.wustl.edu	37	chr9	127660878	127660878	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtaaagaacgttcatattCattcctgcattctttaaggg	7	7	3	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr9:127660878C>A	ENST00000373555.4	-	15	1690	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*	AL354928.1_ENST00000580940.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	453	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CGTTCATATTCATTCCTGCAT	0.338																																																	0								ENSG00000136935						171	169	170					9																	127660878		2203	4299	6502	GOLGA1	SO:0001587	stop_gained	0			-	HGNC	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1357G>T	9.37:g.127660878C>A	ENSP00000362656:p.Glu453*	Somatic	0	85	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	70	18.60	Q5T164|Q8IYZ9	Nonsense_Mutation	SNP							pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.E453*	ENST00000373555.4	37	c.1357	CCDS6860.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.331978	0.98217	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.44	5.44	0.79542	.	0.000000	0.47852	D	0.000201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.1801	15.1232	0.72460	0.0:1.0:0.0:0.0	.	.	.	.	X	453	.	ENSP00000362656:E453X	E	-	1	0	GOLGA1	126700699	1.000000	0.71417	0.996000	0.52242	0.602000	0.36980	2.527000	0.45615	2.695000	0.91970	0.655000	0.94253	GAA	-	NULL		0.338	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	protein_coding	OTTHUMT00000054049.1	C	NM_002077	-		127660878	-1	no_errors	ENST00000373555	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	127660878	C	A	127660878	4	1	118	1	0	0	0	0	0	1	0	0	6553	835	29	3	982	3	GOLGA1	9	127660878	Nonsense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	37158403	127660878	13552553	28	8801											
SPTAN1	6709	genome.wustl.edu	37	chr9	131347005	131347019	+	In_Frame_Del	DEL	GATTTAATTGGGGTC	GATTTAATTGGGGTC	-													ggtgtctgctttcaggtaagGatttaattggggtccagaat							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	GATTTAATTGGGGTC	GATTTAATTGGGGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr9:131347005_131347019delGATTTAATTGGGGTC	ENST00000372731.4	+	18	2553_2567	c.2443_2457delGATTTAATTGGGGTC	c.(2443-2457)gatttaattggggtcdel	p.DLIGV815del	SPTAN1_ENST00000372739.3_In_Frame_Del_p.DLIGV815del|SPTAN1_ENST00000358161.5_In_Frame_Del_p.DLIGV815del	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	815					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTCAGGTAAGGATTTAATTGGGGTCCAGAATCTGC	0.447																																					NSCLC(120;833 1744 2558 35612 37579)												0								ENSG00000197694																																			SPTAN1	SO:0001651	inframe_deletion	0				HGNC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2443_2457delGATTTAATTGGGGTC	9.37:g.131347005_131347019delGATTTAATTGGGGTC	ENSP00000361816:p.Asp815_Val819del	Somatic					0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	In_Frame_Del	DEL							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.DLIGV815in_frame_del	ENST00000372731.4	37	c.2443_2457	CCDS6905.1	9																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.447	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	protein_coding	OTTHUMT00000054472.1	GATTTAATTGGGGTC	NM_003127			131347019	1	no_errors	ENST00000358161	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.992:0.988:1.000:0.997:1.000:0.998:0.997:1.000:1.000:0.254:1.000:1.000:1.000	-	-	131347019	GATTTAATTGGGGTC	-	131347005	7	5	118	1	0	1	0	1	0	0	0	0	15124	1174	41	0	2509	0	SPTAN1	9	131347005	In_Frame_Del	DEL	GATTTAATTGGGGTC	TCGA-DX-AB2O-01A-12D-A38Z-09	3686127	131347005	9866426	29	8802	158	3									
SPTAN1	6709	genome.wustl.edu	37	chr9	131347012	131347032	+	In_Frame_Del	DEL	TTGGGGTCCAGAATCTGCTAA	TTGGGGTCCAGAATCTGCTAA	-													gctttcaggtaaggatttaaTtggggtccagaatctgctaa							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	TTGGGGTCCAGAATCTGCTAA	TTGGGGTCCAGAATCTGCTAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr9:131347012_131347032delTTGGGGTCCAGAATCTGCTAA	ENST00000372731.4	+	18	2560_2580	c.2450_2470delTTGGGGTCCAGAATCTGCTAA	c.(2449-2472)attggggtccagaatctgctaaag>aag	p.IGVQNLL817del	SPTAN1_ENST00000372739.3_In_Frame_Del_p.IGVQNLL817del|SPTAN1_ENST00000358161.5_In_Frame_Del_p.IGVQNLL817del	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	817					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGGATTTAATTGGGGTCCAGAATCTGCTAAAGAAACATCA	0.448																																					NSCLC(120;833 1744 2558 35612 37579)												0								ENSG00000197694																																			SPTAN1	SO:0001651	inframe_deletion	0				HGNC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2450_2470delTTGGGGTCCAGAATCTGCTAA	9.37:g.131347012_131347032delTTGGGGTCCAGAATCTGCTAA	ENSP00000361816:p.Ile817_Leu823del	Somatic					0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	In_Frame_Del	DEL							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.IGVQNLL817in_frame_del	ENST00000372731.4	37	c.2450_2470	CCDS6905.1	9																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.448	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	protein_coding	OTTHUMT00000054472.1	TTGGGGTCCAGAATCTGCTAA	NM_003127			131347032	1	no_errors	ENST00000358161	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.997:1.000:1.000:0.254:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:0.998:0.995:0.162:0.306:0.323:0.133:1.000	-	-	131347032	TTGGGGTCCAGAATCTGCTAA	-	131347012	7	5	118	1	0	1	0	1	0	0	0	0	15124	1493	52	0	2516	0	SPTAN1	9	131347012	In_Frame_Del	DEL	TTGGGGTCCAGAATCTGCTAA	TCGA-DX-AB2O-01A-12D-A38Z-09	7	131347012	9866419	30	8803	158	3									
SPTAN1	6709	genome.wustl.edu	37	chr9	131347022	131347027	+	In_Frame_Del	DEL	GAATCT	GAATCT	-													aaggatttaattggggtccaGaatctgctaaagaaacatca							TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	GAATCT	GAATCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr9:131347022_131347027delGAATCT	ENST00000372731.4	+	18	2570_2575	c.2460_2465delGAATCT	c.(2458-2466)cagaatctg>cag	p.NL821del	SPTAN1_ENST00000372739.3_In_Frame_Del_p.NL821del|SPTAN1_ENST00000358161.5_In_Frame_Del_p.NL821del	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	821					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTGGGGTCCAGAATCTGCTAAAGAAA	0.451																																					NSCLC(120;833 1744 2558 35612 37579)												0								ENSG00000197694																																			SPTAN1	SO:0001651	inframe_deletion	0				HGNC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2460_2465delGAATCT	9.37:g.131347022_131347027delGAATCT	ENSP00000361816:p.Asn821_Leu822del	Somatic					0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	In_Frame_Del	DEL							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.NL821in_frame_del	ENST00000372731.4	37	c.2460_2465	CCDS6905.1	9																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.451	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	protein_coding	OTTHUMT00000054472.1	GAATCT	NM_003127			131347027	1	no_errors	ENST00000358161	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:0.994:0.998:0.995	-	-	131347027	GAATCT	-	131347022	7	5	118	1	0	1	0	1	0	0	0	0	15124	933	33	0	2526	0	SPTAN1	9	131347022	In_Frame_Del	DEL	GAATCT	TCGA-DX-AB2O-01A-12D-A38Z-09	10	131347022	9866409	31	8804	158	3									
NOTCH1	4851	genome.wustl.edu	37	chr9	139401405	139401405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggattgcagtcgtccaCgttgatctcacagtgcacac	13	11	1	1	rs112900950		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr9:139401405C>T	ENST00000277541.6	-	23	3739	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1222	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		CAGTCGTCCACGTTGATCTCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0								ENSG00000148400						12	15	14					9																	139401405		2022	4167	6189	NOTCH1	SO:0001583	missense	0			-	HGNC	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.3664G>A	9.37:g.139401405C>T	ENSP00000277541:p.Val1222Met	Somatic	0	33	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q59ED8|Q5SXM3	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.V1222M	ENST00000277541.6	37	c.3664	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340037	0.24339	.	.	ENSG00000148400	ENST00000277541	D	0.87650	-2.28	5.23	2.4	0.29515	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.260386	0.36002	N	0.002857	T	0.81264	0.4786	L	0.43152	1.355	0.46849	D	0.999224	B	0.15719	0.014	B	0.19946	0.027	T	0.73219	-0.4052	10	0.54805	T	0.06	.	9.4627	0.38794	0.0:0.7703:0.0:0.2297	.	1222	P46531	NOTC1_HUMAN	M	1222	ENSP00000277541:V1222M	ENSP00000277541:V1222M	V	-	1	0	NOTCH1	138521226	0.749000	0.28305	0.849000	0.33467	0.077000	0.17291	0.091000	0.15046	0.226000	0.20979	0.655000	0.94253	GTG	-	smart_EGF-like_Ca-bd_dom,pirsf_Notch		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	rs112900950		139401405	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139401405	C	T	139401405	3	4	118	1	0	0	0	0	1	0	0	0	10549	536	19	1	4051	1	NOTCH1	9	139401405	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	8054383	139401405	1812026	32	8805											
FBXO18	84893	genome.wustl.edu	37	chr10	5979192	5979192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgccatggagcgcactgtGgagaacatcgtactgccccg	13	14	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr10:5979192G>A	ENST00000362091.4	+	21	3196	c.3081G>A	c.(3079-3081)gtG>gtA	p.V1027V	RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000379999.5_Silent_p.V1078V|FBXO18_ENST00000397269.3_Silent_p.V531V	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1027					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGCGCACTGTGGAGAACATCG	0.672																																																	0								ENSG00000134452						32	32	32					10																	5979192		2203	4300	6503	FBXO18	SO:0001819	synonymous_variant	0			-	HGNC	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3081G>A	10.37:g.5979192G>A		Somatic	0	33	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.59	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP							pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.V1078	ENST00000362091.4	37	c.3234	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010596	0.35511	.	.	ENSG00000134452	ENST00000544954;ENST00000379994	.	.	.	5.24	-2.8	0.05823	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.44515	D	0.997464	.	.	.	.	.	.	T	0.58205	-0.7677	5	0.87932	D	0	-2.5723	4.6537	0.12606	0.235:0.0996:0.5468:0.1186	.	.	.	.	R	397	.	ENSP00000369330:G397R	G	+	1	0	FBXO18	6019198	0.012000	0.17670	0.002000	0.10522	0.965000	0.64279	-0.814000	0.04486	-0.394000	0.07727	0.536000	0.68110	GGA	-	NULL		0.672	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	protein_coding	OTTHUMT00000046596.1	G	NM_032807	-		5979192	1	no_errors	ENST00000379999	ensembl	human	known	74_37	silent	SNP	0.011	A	A	5979192	G	A	5979192	2	1	118	1	0	0	0	0	0	0	0	1	5733	1335	47	2		2	FBXO18	10	5979192	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		5979192	129555555	33	8806											
MKI67	4288	genome.wustl.edu	37	chr10	129904025	129904025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtctctctgtgtgtctGtgtggtcttccctgacgtct	11	11	5	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr10:129904025G>T	ENST00000368654.3	-	13	6454	c.6079C>A	c.(6079-6081)Cag>Aag	p.Q2027K	MKI67_ENST00000368653.3_Missense_Mutation_p.Q1667K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2027	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTGTGTCTGTGTGGTCTTC	0.498																																																	0								ENSG00000148773						335	312	319					10																	129904025		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6079C>A	10.37:g.129904025G>T	ENSP00000357643:p.Gln2027Lys	Somatic	0	53	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.29	Q5VWH2	Missense_Mutation	SNP							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.Q2027K	ENST00000368654.3	37	c.6079	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.334308	0.01287	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02121	4.44;4.44	4.03	-5.44	0.02624	.	2.673800	0.01526	N	0.018591	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.002;0.003	T	0.44065	-0.9352	10	0.06494	T	0.89	.	3.7517	0.08569	0.1635:0.4886:0.1471:0.2008	.	2026;1667;2027	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2027;1667;2026	ENSP00000357643:Q2027K;ENSP00000357642:Q1667K	ENSP00000357642:Q1667K	Q	-	1	0	MKI67	129794015	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.650000	0.01991	-0.852000	0.04141	-1.862000	0.00560	CAG	-	pfam_K167R		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129904025	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	T	T	129904025	G	T	129904025	3	4	118	1	0	0	0	0	1	0	0	0	9600	1386	48	3	3703	3	MKI67	10	129904025	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	123924833	129904025	5630722	34	8807											
STK33	65975	genome.wustl.edu	37	chr11	8476292	8476292	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccattgctaatcttaccTttatgtttaagtttatttca	3	9	2	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr11:8476292T>G	ENST00000447869.1	-	6	1703	c.785A>C	c.(784-786)aAg>aCg	p.K262T	STK33_ENST00000396673.1_Splice_Site_p.K262T|STK33_ENST00000396672.1_Splice_Site_p.K262T|STK33_ENST00000358872.3_Splice_Site_p.K75T|STK33_ENST00000473980.1_5'Flank|STK33_ENST00000315204.1_Splice_Site_p.K262T|STK33_ENST00000534493.1_Splice_Site_p.K221T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	262	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)		TAATCTTACCTTTATGTTTAA	0.308																																																	0								ENSG00000130413						138	128	131					11																	8476292		2191	4292	6483	STK33	SO:0001630	splice_region_variant	0			-	HGNC	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.786+1A>C	11.37:g.8476292T>G		Somatic	0	70	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	38	40.62	Q658S6|Q8NEF5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K262T	ENST00000447869.1	37	c.785	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849332	0.71603	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493;ENST00000524760	T;T;T;T;T;T;T;T	0.39056	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.1	5.92	5.92	0.95590	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	0.74313	0.3700	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81064	-0.1102	10	0.52906	T	0.07	.	16.0516	0.80765	0.0:0.0:0.0:1.0	.	262	Q9BYT3	STK33_HUMAN	T	262;262;262;75;262;17;221;174	ENSP00000416750:K262T;ENSP00000320754:K262T;ENSP00000379905:K262T;ENSP00000351743:K75T;ENSP00000379906:K262T;ENSP00000415688:K17T;ENSP00000436418:K221T;ENSP00000436905:K174T	ENSP00000320754:K262T	K	-	2	0	STK33	8432868	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	6.507000	0.73717	2.277000	0.76020	0.528000	0.53228	AAG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.308	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	protein_coding	OTTHUMT00000276819.2	T	NM_030906	-	Missense_Mutation	8476292	-1	no_errors	ENST00000315204	ensembl	human	known	74_37	missense	SNP	1.000	G	G	8476292	T	G	8476292	5	3	118	1	0	0	0	0	0	0	1	0	15307	1623	56	5	787	5	STK33	11	8476292	Splice_Site	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09		8476292	126530224	35	8808											
DHCR7	1717	genome.wustl.edu	37	chr11	71146576	71146576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagggcagcaggtggcCgccgccacaggccaggcagt	17	12	0	0	rs760242	byFrequency	TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr11:71146576C>A	ENST00000355527.3	-	9	1549	c.1273G>T	c.(1273-1275)Ggc>Tgc	p.G425C	DHCR7_ENST00000407721.2_Missense_Mutation_p.G425C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	425			G -> S (in dbSNP:rs760242).		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AGCAGGTGGCCGCCGCCACAG	0.672									Smith-Lemli-Opitz syndrome																																								0								ENSG00000172893						23	26	25					11																	71146576		2197	4290	6487	DHCR7	SO:0001583	missense	0	Familial Cancer Database	SLOS type I & II	-	HGNC	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1273G>T	11.37:g.71146576C>A	ENSP00000347717:p.Gly425Cys	Somatic	0	76	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	B2R6Z2|O60492|O60717	Missense_Mutation	SNP							pfam_Ergosterol_biosynth_ERG4_ERG24	p.G425C	ENST00000355527.3	37	c.1273	CCDS8200.1	11	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293161	0.60086	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800	D;D;D	0.97976	-4.64;-4.64;-4.64	5.12	0.914	0.19360	.	0.534254	0.22761	N	0.055950	D	0.97629	0.9223	M	0.73962	2.25	0.30645	N	0.756068	D	0.69078	0.997	P	0.62014	0.897	D	0.94799	0.7969	10	0.56958	D	0.05	-30.4097	7.0163	0.24890	0.127:0.6367:0.0:0.2363	.	425	Q9UBM7	DHCR7_HUMAN	C	425;425;175	ENSP00000384739:G425C;ENSP00000347717:G425C;ENSP00000435011:G175C	ENSP00000347717:G425C	G	-	1	0	DHCR7	70824224	0.009000	0.17119	0.978000	0.43139	0.895000	0.52256	0.259000	0.18405	0.207000	0.20607	-0.940000	0.02684	GGC	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.672	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	protein_coding	OTTHUMT00000394243.1	C	NM_001360	-		71146576	-1	no_errors	ENST00000355527	ensembl	human	known	74_37	missense	SNP	0.873	A	A	71146576	C	A	71146576	3	1	118	1	0	0	0	0	1	0	0	0	4479	652	23	3	158	3	DHCR7	11	71146576	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	62670284	71146576	63859940	36	8809											
ZNF705A	440077	genome.wustl.edu	37	chr12	8329703	8329703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactcacagtggaaagaaaCcctatgtcagcaaacagtgt	8	9	2	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr12:8329703C>T	ENST00000359286.4	+	5	516	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	143					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(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGGAAAGAAACCCTATGTCAG	0.368																																																	0								ENSG00000196946						129	132	131					12																	8329703		2203	4300	6503	ZNF705A	SO:0001583	missense	0			-	HGNC	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.427C>T	12.37:g.8329703C>T	ENSP00000352233:p.Pro143Ser	Somatic	0	343	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	414	10.39		Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P143S	ENST00000359286.4	37	c.427	CCDS31737.1	12	.	.	.	.	.	.	.	.	.	.	.	8.775	0.926768	0.18056	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.06933	3.24;3.24	1.35	0.277	0.15668	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	L	0.60904	1.88	0.22240	N	0.999269	B	0.28552	0.215	B	0.29440	0.102	T	0.26815	-1.0092	9	0.54805	T	0.06	.	6.9809	0.24702	0.0:0.7101:0.2899:0.0	.	143	Q6ZN79	Z705A_HUMAN	S	143	ENSP00000379816:P143S;ENSP00000352233:P143S	ENSP00000352233:P143S	P	+	1	0	ZNF705A	8220970	0.007000	0.16637	0.050000	0.19076	0.309000	0.27889	1.225000	0.32551	0.100000	0.17581	0.400000	0.26472	CCC	-	pfscan_Znf_C2H2		0.368	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705A	protein_coding	OTTHUMT00000400449.1	C	NM_001004328	-		8329703	1	no_errors	ENST00000359286	ensembl	human	known	74_37	missense	SNP	0.911	T	T	8329703	C	T	8329703	3	4	118	1	0	0	0	0	1	0	0	0	18115	507	18	2	445	2	ZNF705A	12	8329703	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		8329703	125522192	37	8810											
POC1B	282809	genome.wustl.edu	37	chr12	89818973	89818973	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagttgttccataatatgctCtaaagcatcagtcacagcga	8	9	3	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr12:89818973C>G	ENST00000313546.3	-	11	1425	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.E391Q|POC1B_ENST00000393179.4_Missense_Mutation_p.E303Q	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	433					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.E433*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATAATATGCTCTAAAGCATCA	0.428																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000139323						227	178	195					12																	89818973		2203	4300	6503	POC1B	SO:0001583	missense	0			-	HGNC	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1297G>C	12.37:g.89818973C>G	ENSP00000323302:p.Glu433Gln	Somatic	0	52	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	25	44.44	G3V1X0	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E433Q	ENST00000313546.3	37	c.1297	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750052	0.49257	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.59224	0.28;0.28;0.28	5.8	5.8	0.92144	.	0.117717	0.56097	D	0.000027	T	0.58878	0.2153	L	0.45744	1.44	0.80722	D	1	D	0.57257	0.979	P	0.49140	0.601	T	0.55736	-0.8094	10	0.33940	T	0.23	.	15.5467	0.76108	0.0:1.0:0.0:0.0	.	433	Q8TC44	POC1B_HUMAN	Q	303;433;391	ENSP00000376877:E303Q;ENSP00000323302:E433Q;ENSP00000447916:E391Q	ENSP00000323302:E433Q	E	-	1	0	POC1B	88343104	1.000000	0.71417	0.960000	0.40013	0.167000	0.22549	4.420000	0.59841	2.729000	0.93468	0.563000	0.77884	GAG	-	NULL		0.428	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	protein_coding	OTTHUMT00000406637.1	C	NM_172240	-		89818973	-1	no_errors	ENST00000313546	ensembl	human	known	74_37	missense	SNP	0.988	G	G	89818973	C	G	89818973	3	3	118	1	0	0	0	0	1	0	0	0	12178	922	32	4	147	4	POC1B	12	89818973	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	81489270	89818973	44032922	38	8811											
POC1B	282809	genome.wustl.edu	37	chr12	89819150	89819150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagtcctaccactggtttCtgttgtctttaatgtcacag	8	10	3	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr12:89819150C>T	ENST00000313546.3	-	11	1248	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.E332K|POC1B_ENST00000393179.4_Missense_Mutation_p.E244K	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	374	Poly-Thr.				cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						CCACTGGTTTCTGTTGTCTTT	0.363																																																	0								ENSG00000139323						80	79	79					12																	89819150		2203	4300	6503	POC1B	SO:0001583	missense	0			-	HGNC	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1120G>A	12.37:g.89819150C>T	ENSP00000323302:p.Glu374Lys	Somatic	0	44	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28	G3V1X0	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E374K	ENST00000313546.3	37	c.1120	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	C	1.546	-0.540378	0.04053	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.48201	0.82;0.82;0.82	5.41	4.49	0.54785	.	0.732240	0.13445	N	0.387337	T	0.29749	0.0743	N	0.22421	0.69	0.25396	N	0.98849	B	0.17667	0.023	B	0.14023	0.01	T	0.13899	-1.0492	10	0.06365	T	0.9	.	11.2139	0.48815	0.0:0.801:0.199:0.0	.	374	Q8TC44	POC1B_HUMAN	K	244;374;332	ENSP00000376877:E244K;ENSP00000323302:E374K;ENSP00000447916:E332K	ENSP00000323302:E374K	E	-	1	0	POC1B	88343281	0.016000	0.18221	0.150000	0.22450	0.060000	0.15804	2.268000	0.43338	2.816000	0.96949	0.563000	0.77884	GAA	-	NULL		0.363	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	protein_coding	OTTHUMT00000406637.1	C	NM_172240	-		89819150	-1	no_errors	ENST00000313546	ensembl	human	known	74_37	missense	SNP	0.027	T	T	89819150	C	T	89819150	3	4	118	1	0	0	0	0	1	0	0	0	12178	922	32	2	324	2	POC1B	12	89819150	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	177	89819150	44032745	39	8812											
LNX2	222484	genome.wustl.edu	37	chr13	28122567	28122567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagtggctcatgcccaCggttgacagcccatttacgg	12	12	1	2	rs35562382	byFrequency	TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr13:28122567C>T	ENST00000316334.3	-	10	2107	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	660	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTCATGCCCACGGTTGACAGC	0.443													C|||	9	0.00179712	0	0	5008	,	,		19586	0.001		0	False		,,,				2504	0.0082																0								ENSG00000139517						99	79	85					13																	28122567		2203	4300	6503	LNX2	SO:0001583	missense	0			-	HGNC	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1978G>A	13.37:g.28122567C>T	ENSP00000325929:p.Val660Met	Somatic	0	59	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	15	55.88	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP							pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.V660M	ENST00000316334.3	37	c.1978	CCDS9323.1	13	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406687	0.62399	.	.	ENSG00000139517	ENST00000316334	T	0.29142	1.58	5.98	4.16	0.48862	PDZ/DHR/GLGF (4);	0.240031	0.42682	D	0.000674	T	0.28134	0.0694	L	0.52364	1.645	0.42593	D	0.993254	B	0.30236	0.274	B	0.26202	0.067	T	0.08889	-1.0700	10	0.39692	T	0.17	.	13.5367	0.61650	0.0:0.8115:0.1214:0.067	rs35562382	660	Q8N448	LNX2_HUMAN	M	660	ENSP00000325929:V660M	ENSP00000325929:V660M	V	-	1	0	LNX2	27020567	0.996000	0.38824	0.944000	0.38274	0.679000	0.39708	3.389000	0.52516	1.527000	0.49086	0.585000	0.79938	GTG	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	protein_coding	OTTHUMT00000044302.2	C		rs35562382		28122567	-1	no_errors	ENST00000316334	ensembl	human	known	74_37	missense	SNP	0.984	T	T	28122567	C	T	28122567	3	4	118	1	0	0	0	0	1	0	0	0	8868	536	19	1	98	1	LNX2	13	28122567	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		28122567	87047311	40	8813											
MYH7	4625	genome.wustl.edu	37	chr14	23900812	23900812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaagcgggaggagttgtcGttccggacggtcttggcatt	16	8	1	0	rs202141819		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr14:23900812G>A	ENST00000355349.3	-	8	876	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	238	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.N238K(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGAGTTGTCGTTCCGGACGG	0.597																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000092054	G		0,4406		0,0,2203	182	170	174		714	-3.8	1	14		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH7	NM_000257.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		238/1936	23900812	1,13005	2203	4300	6503	MYH7	SO:0001819	synonymous_variant	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.714C>T	14.37:g.23900812G>A		Somatic	0	44	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N238	ENST00000355349.3	37	c.714	CCDS9601.1	14																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	G	NM_000257	rs202141819		23900812	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	SNP	1.000	A	A	23900812	G	A	23900812	2	1	118	1	0	0	0	0	0	0	0	1	10041	1136	40	1		1	MYH7	14	23900812	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		23900812	83448728	41	8814											
LRRC16B	90668	genome.wustl.edu	37	chr14	24532356	24532356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcaaaaagcagaaaCgctgccgcaagattcggccg	11	12	1	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr14:24532356C>T	ENST00000342740.5	+	30	2888	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	LRRC16B_ENST00000334420.7_Missense_Mutation_p.R8C	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	912						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AAAGCAGAAACGCTGCCGCAA	0.562																																																	0								ENSG00000186648						74	70	71					14																	24532356		2203	4300	6503	LRRC16B	SO:0001583	missense	0			-	HGNC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2734C>T	14.37:g.24532356C>T	ENSP00000340467:p.Arg912Cys	Somatic	0	28	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	Q8TEF7|Q96HS9	Missense_Mutation	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R912C	ENST00000342740.5	37	c.2734	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979508	0.74360	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.52983	2.24;0.64	5.27	5.27	0.74061	.	0.000000	0.49916	D	0.000137	T	0.59101	0.2169	L	0.38175	1.15	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;P	0.67548	0.952;0.635	T	0.61724	-0.7004	10	0.87932	D	0	-20.7069	16.7393	0.85455	0.0:1.0:0.0:0.0	.	8;912	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	C	912;8	ENSP00000340467:R912C;ENSP00000334701:R8C	ENSP00000334701:R8C	R	+	1	0	LRRC16B	23602196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.216000	0.51176	2.619000	0.88677	0.561000	0.74099	CGC	-	NULL		0.562	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	protein_coding	OTTHUMT00000416527.1	C	NM_138360	-		24532356	1	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24532356	C	T	24532356	3	4	118	1	0	0	0	0	1	0	0	0	8974	536	19	1	2852	1	LRRC16B	14	24532356	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	631544	24532356	82817184	42	8815											
LINGO1	84894	genome.wustl.edu	37	chr15	77906434	77906434	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgtcggcggagctgatGcctgcgtccgactttcgggg	18	12	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr15:77906434G>T	ENST00000355300.6	-	2	1989	c.1815C>A	c.(1813-1815)ggC>ggA	p.G605G	LINGO1_ENST00000561030.1_Silent_p.G599G	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	605					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGAGCTGATGCCTGCGTCCG	0.652																																																	0								ENSG00000169783						50	53	52					15																	77906434		2041	4158	6199	LINGO1	SO:0001819	synonymous_variant	0			-	HGNC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1815C>A	15.37:g.77906434G>T		Somatic	0	29	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G605	ENST00000355300.6	37	c.1815	CCDS45313.1	15																																																																																			-	NULL		0.652	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	protein_coding	OTTHUMT00000419546.1	G	NM_032808	-		77906434	-1	no_errors	ENST00000355300	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77906434	G	T	77906434	2	4	118	1	0	0	0	0	0	0	0	1	8816	1306	46	3		3	LINGO1	15	77906434	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		77906434	24624958	43	8816											
SOX8	30812	genome.wustl.edu	37	chr16	1033836	1033836	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccagccacggcgcaggaaGagcgccaaagccggccacag	13	15	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr16:1033836G>A	ENST00000293894.3	+	2	646	c.531G>A	c.(529-531)aaG>aaA	p.K177K	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	177					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GGCGCAGGAAGAGCGCCAAAG	0.677																																																	0								ENSG00000005513						40	38	39					16																	1033836		2198	4294	6492	SOX8	SO:0001819	synonymous_variant	0			-	HGNC	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.531G>A	16.37:g.1033836G>A		Somatic	0	72	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	90	12.62	Q9NZW2	Silent	SNP							pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K177	ENST00000293894.3	37	c.531	CCDS10428.1	16																																																																																			-	NULL		0.677	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX8	protein_coding	OTTHUMT00000242867.1	G		-		1033836	1	no_errors	ENST00000293894	ensembl	human	known	74_37	silent	SNP	0.552	A	A	1033836	G	A	1033836	2	1	118	1	0	0	0	0	0	0	0	1	14965	933	33	2		2	SOX8	16	1033836	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09		1033836	89320917	44	8817											
C16orf62	57020	genome.wustl.edu	37	chr16	19659138	19659138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtgattttgaacaacagctGagtttttatgttgagtccag	10	6	0	4			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr16:19659138G>A	ENST00000251143.5	+	24	1974	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	C16orf62_ENST00000448695.1_Silent_p.L504L|C16orf62_ENST00000543152.1_Silent_p.L403L|C16orf62_ENST00000542263.1_Silent_p.L676L|C16orf62_ENST00000438132.3_Silent_p.L743L|C16orf62_ENST00000417362.2_Silent_p.L587L			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	654						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AACAACAGCTGAGTTTTTATG	0.408																																																	0								ENSG00000103544						262	232	242					16																	19659138		2197	4300	6497	C16orf62	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1962G>A	16.37:g.19659138G>A		Somatic	0	95	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	103	13.45	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP							NULL	p.L743	ENST00000251143.5	37	c.2229		16																																																																																			-	NULL		0.408	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	protein_coding		G	NM_020314	-		19659138	1	no_errors	ENST00000438132	ensembl	human	known	74_37	silent	SNP	0.976	A	A	19659138	G	A	19659138	2	1	118	1	0	0	0	0	0	0	0	1	1827	1277	45	2		2	C16orf62	16	19659138	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	18625302	19659138	70695615	45	8818											
KIAA0556	23247	genome.wustl.edu	37	chr16	27777745	27777745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggccgaaagcatcgcaGgcctgcgcttctggaactac	12	13	1	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr16:27777745G>A	ENST00000261588.4	+	20	3944	c.3925G>A	c.(3925-3927)Ggc>Agc	p.G1309S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1309						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAGCATCGCAGGCCTGCGCTT	0.597																																																	0								ENSG00000047578						82	75	77					16																	27777745		2197	4300	6497	KIAA0556	SO:0001583	missense	0			-	HGNC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3925G>A	16.37:g.27777745G>A	ENSP00000261588:p.Gly1309Ser	Somatic	0	30	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	A7E2C2	Missense_Mutation	SNP							superfamily_Thaumatin	p.G1309S	ENST00000261588.4	37	c.3925	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.756397	0.96898	.	.	ENSG00000047578	ENST00000261588	T	0.15256	2.44	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.38650	-0.9651	10	0.66056	D	0.02	-10.3887	18.8967	0.92426	0.0:0.0:1.0:0.0	.	1309	O60303	K0556_HUMAN	S	1309	ENSP00000261588:G1309S	ENSP00000261588:G1309S	G	+	1	0	KIAA0556	27685246	1.000000	0.71417	0.979000	0.43373	0.976000	0.68499	9.669000	0.98622	2.558000	0.86282	0.591000	0.81541	GGC	-	NULL		0.597	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	G	NM_015202	-		27777745	1	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27777745	G	A	27777745	3	1	118	1	0	0	0	0	1	0	0	0	8185	1000	35	2	4003	2	KIAA0556	16	27777745	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	8118607	27777745	62577008	46	8819											
ZNF689	115509	genome.wustl.edu	37	chr16	30620882	30620882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctctcgggtactcctgcgGatctagagcagccggttccc	11	16	2	1	rs146699442		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr16:30620882G>A	ENST00000287461.3	-	2	620	c.283C>T	c.(283-285)Ccg>Tcg	p.P95S	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	95	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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)			TACTCCTGCGGATCTAGAGCA	0.547													G|||	1	0.000199681	0	0	5008	,	,		15892	0		0.001	False		,,,				2504	0																0								ENSG00000156853	G	SER/PRO	0,4394		0,0,2197	108	103	105		283	4.3	1	16	dbSNP_134	105	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF689	NM_138447.1	74	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	95/501	30620882	3,12991	2197	4300	6497	ZNF689	SO:0001583	missense	0			-	HGNC	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.283C>T	16.37:g.30620882G>A	ENSP00000287461:p.Pro95Ser	Somatic	0	47	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q658J5	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P95S	ENST00000287461.3	37	c.283	CCDS10686.1	16	.	.	.	.	.	.	.	.	.	.	g	16.12	3.033283	0.54896	0.0	3.49E-4	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.06849	3.25	4.31	4.31	0.51392	Krueppel-associated box (1);	0.000000	0.37483	N	0.002073	T	0.13500	0.0327	N	0.20986	0.625	0.43118	D	0.994839	D	0.89917	1.0	D	0.79108	0.992	T	0.10177	-1.0641	10	0.07325	T	0.83	-23.6398	14.6545	0.68823	0.0:0.0:1.0:0.0	.	95	Q96CS4	ZN689_HUMAN	S	95	ENSP00000287461:P95S	ENSP00000287461:P95S	P	-	1	0	ZNF689	30528383	0.996000	0.38824	1.000000	0.80357	0.803000	0.45373	2.677000	0.46892	2.403000	0.81681	0.561000	0.74099	CCG	-	pfscan_Krueppel-associated_box		0.547	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	protein_coding	OTTHUMT00000255552.1	G	NM_138447	rs146699442		30620882	-1	no_errors	ENST00000287461	ensembl	human	known	74_37	missense	SNP	0.999	A	A	30620882	G	A	30620882	3	1	118	1	0	0	0	0	1	0	0	0	18101	1174	41	2	1227	2	ZNF689	16	30620882	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	2843137	30620882	59733871	47	8820											
HYDIN	54768	genome.wustl.edu	37	chr16	70908403	70908403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagtggatgatacctcTcatcctcccaaccttctggg	8	13	2	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr16:70908403T>C	ENST00000393567.2	-	64	10903	c.10753A>G	c.(10753-10755)Aga>Gga	p.R3585G	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3585					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)				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)				ATGATACCTCTCATCCTCCCA	0.478																																																	0								ENSG00000157423						7	7	7					16																	70908403		1743	3993	5736	HYDIN	SO:0001583	missense	0			-	HGNC	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.10753A>G	16.37:g.70908403T>C	ENSP00000377197:p.Arg3585Gly	Somatic	0	32	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.R3585G	ENST00000393567.2	37	c.10753	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	3.193	-0.165363	0.06461	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	4.71	-2.0	0.07433	.	1.250580	0.06324	U	0.704919	T	0.00875	0.0029	N	0.14661	0.345	0.18873	N	0.999985	B	0.06786	0.001	B	0.16722	0.016	T	0.47497	-0.9113	10	0.29301	T	0.29	.	11.7582	0.51888	0.0:0.5756:0.0:0.4244	.	3584	F8WD23	.	G	3585;3584	ENSP00000377197:R3585G	ENSP00000313052:R3584G	R	-	1	2	HYDIN	69465904	0.001000	0.12720	0.382000	0.26119	0.150000	0.21749	-0.338000	0.07842	-0.399000	0.07668	0.418000	0.28097	AGA	-	NULL		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	T		-		70908403	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.015	C	C	70908403	T	C	70908403	3	2	118	1	0	0	0	0	1	0	0	0	7469	1559	54	5	4704	5	HYDIN	16	70908403	Missense_Mutation	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09	40287521	70908403	19446350	48	8821											
PRPF8	10594	genome.wustl.edu	37	chr17	1577107	1577107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttcttgttattatagcCaacgatgttttcattattgg	7	7	2	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:1577107C>T	ENST00000572621.1	-	21	3644	c.3379G>A	c.(3379-3381)Ggc>Agc	p.G1127S	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1127S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1127	Reverse transcriptase 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)			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)		TTATTATAGCCAACGATGTTT	0.507																																																	0								ENSG00000174231						207	187	194					17																	1577107		2203	4300	6503	PRPF8	SO:0001583	missense	0			-	HGNC	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.3379G>A	17.37:g.1577107C>T	ENSP00000460348:p.Gly1127Ser	Somatic	0	67	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	O14547|O75965	Missense_Mutation	SNP							pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.G1127S	ENST00000572621.1	37	c.3379	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978345	0.92982	.	.	ENSG00000174231	ENST00000304992	D	0.83250	-1.7	5.45	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95246	0.8355	10	0.72032	D	0.01	.	15.763	0.78101	0.1374:0.8626:0.0:0.0	.	1127	Q6P2Q9	PRP8_HUMAN	S	1127	ENSP00000304350:G1127S	ENSP00000304350:G1127S	G	-	1	0	PRPF8	1523857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.647000	0.83462	1.520000	0.48965	0.585000	0.79938	GGC	-	superfamily_Cupredoxin		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	C		-		1577107	-1	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1577107	C	T	1577107	3	4	118	1	0	0	0	0	1	0	0	0	12580	594	21	2	3716	2	PRPF8	17	1577107	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		1577107	79618103	49	8822											
PRPF8	10594	genome.wustl.edu	37	chr17	1584027	1584027	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccttcctcaccttgactGagtgcctatgggagattggg	11	11	1	3			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:1584027G>A	ENST00000572621.1	-	7	1356	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	PRPF8_ENST00000304992.6_Missense_Mutation_p.S364L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	364					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)		CACCTTGACTGAGTGCCTATG	0.478																																																	0								ENSG00000174231						104	95	98					17																	1584027		2203	4300	6503	PRPF8	SO:0001583	missense	0			-	HGNC	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.1091C>T	17.37:g.1584027G>A	ENSP00000460348:p.Ser364Leu	Somatic	0	39	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	O14547|O75965	Missense_Mutation	SNP							pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.S364L	ENST00000572621.1	37	c.1091	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912569	0.52439	.	.	ENSG00000174231	ENST00000304992	T	0.80123	-1.34	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	N	0.17312	0.475	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62886	-0.6759	10	0.20046	T	0.44	.	19.7207	0.96142	0.0:0.0:1.0:0.0	.	364	Q6P2Q9	PRP8_HUMAN	L	364	ENSP00000304350:S364L	ENSP00000304350:S364L	S	-	2	0	PRPF8	1530777	1.000000	0.71417	0.952000	0.39060	0.371000	0.29859	9.819000	0.99357	2.647000	0.89833	0.650000	0.86243	TCA	-	NULL		0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	G		-		1584027	-1	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1584027	G	A	1584027	3	1	118	1	0	0	0	0	1	0	0	0	12580	1294	45	2	6060	2	PRPF8	17	1584027	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	6920	1584027	79611183	50	8823											
PRPF8	10594	genome.wustl.edu	37	chr17	1584068	1584068	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgatcaaagggtcaaagtaGaaagctggcaagtcaggatc	12	6	3	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:1584068G>C	ENST00000572621.1	-	7	1315	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	PRPF8_ENST00000304992.6_Missense_Mutation_p.F350L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	350					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)		GGTCAAAGTAGAAAGCTGGCA	0.473																																																	0								ENSG00000174231						125	118	120					17																	1584068		2203	4300	6503	PRPF8	SO:0001583	missense	0			-	HGNC	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.1050C>G	17.37:g.1584068G>C	ENSP00000460348:p.Phe350Leu	Somatic	0	49	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	O14547|O75965	Missense_Mutation	SNP							pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.F350L	ENST00000572621.1	37	c.1050	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787988	0.70337	.	.	ENSG00000174231	ENST00000304992	D	0.83673	-1.75	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.76838	2.35	0.80722	D	1	B	0.26512	0.151	B	0.32677	0.15	T	0.82824	-0.0266	10	0.56958	D	0.05	-4.501	13.4112	0.60944	0.081:0.0:0.919:0.0	.	350	Q6P2Q9	PRP8_HUMAN	L	350	ENSP00000304350:F350L	ENSP00000304350:F350L	F	-	3	2	PRPF8	1530818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.971000	0.56831	2.647000	0.89833	0.650000	0.86243	TTC	-	NULL		0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	G		-		1584068	-1	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	SNP	1.000	C	C	1584068	G	C	1584068	3	2	118	1	0	0	0	0	1	0	0	0	12580	933	33	4	6101	4	PRPF8	17	1584068	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	41	1584068	79611142	51	8824											
TSR1	55720	genome.wustl.edu	37	chr17	2235463	2235463	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagacttgttgactaacCgaattcgagcagccacatca	8	10	1	3			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:2235463C>T	ENST00000301364.5	-	8	2575	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	SNORD91A_ENST00000390861.1_RNA|SNORD91B_ENST00000391250.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	499					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GTTGACTAACCGAATTCGAGC	0.398																																																	0								ENSG00000167721						99	99	99					17																	2235463		2203	4300	6503	TSR1	SO:0001630	splice_region_variant	0			-	HGNC	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1496+1G>A	17.37:g.2235463C>T		Somatic	0	114	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	64	14.67	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP							pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN	p.R499Q	ENST00000301364.5	37	c.1496	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.533709	0.96460	.	.	ENSG00000167721	ENST00000301364	T	0.19669	2.13	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75961	-0.3133	9	.	.	.	-5.4581	17.3751	0.87390	0.0:1.0:0.0:0.0	.	499	Q2NL82	TSR1_HUMAN	Q	499	ENSP00000301364:R499Q	.	R	-	2	0	TSR1	2182213	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.900000	0.75687	2.370000	0.80446	0.555000	0.69702	CGA	-	pfam_BMS1_TSR1_C		0.398	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	protein_coding	OTTHUMT00000438180.2	C	NM_018128	-	Missense_Mutation	2235463	-1	no_errors	ENST00000301364	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2235463	C	T	2235463	5	4	118	1	0	0	0	0	0	0	1	0	16671	666	23	1	950	1	TSR1	17	2235463	Splice_Site	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	651395	2235463	78959747	52	8825											
GSG2	83903	genome.wustl.edu	37	chr17	3628705	3628705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgagaagattggggaAggggtgtttggcgaagtgtt	19	3	0	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:3628705A>T	ENST00000325418.4	+	1	1495	c.1476A>T	c.(1474-1476)gaA>gaT	p.E492D	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AGATTGGGGAAGGGGTGTTTG	0.458																																																	0								ENSG00000177602						59	57	57					17																	3628705		2203	4300	6503	GSG2	SO:0001583	missense	0			-	HGNC	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1476A>T	17.37:g.3628705A>T	ENSP00000325290:p.Glu492Asp	Somatic	0	52	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	18	57.14	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP							pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E492D	ENST00000325418.4	37	c.1476	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138653	0.77775	.	.	ENSG00000177602	ENST00000325418	T	0.67523	-0.27	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.193360	0.32081	N	0.006616	T	0.81479	0.4831	M	0.81341	2.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.84190	0.0444	10	0.87932	D	0	-26.2146	12.8971	0.58106	1.0:0.0:0.0:0.0	.	492	Q8TF76	HASP_HUMAN	D	492	ENSP00000325290:E492D	ENSP00000325290:E492D	E	+	3	2	GSG2	3575454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.865000	0.48412	2.139000	0.66308	0.533000	0.62120	GAA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.458	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	protein_coding	OTTHUMT00000207391.1	A	NM_031965	-		3628705	1	no_errors	ENST00000325418	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3628705	A	T	3628705	3	4	118	1	0	0	0	0	1	0	0	0	6824	69	3	5	1478	5	GSG2	17	3628705	Missense_Mutation	SNP	A	TCGA-DX-AB2O-01A-12D-A38Z-09	1393242	3628705	77566505	53	8826											
VMO1	284013	genome.wustl.edu	37	chr17	4688744	4688744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcttggtctgcaggccGcacgcgcccttggggcaatg	15	12	2	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:4688744G>A	ENST00000328739.5	-	3	601	c.522C>T	c.(520-522)tgC>tgT	p.C174C	VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000441199.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	174						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TCTGCAGGCCGCACGCGCCCT	0.657																																																	0								ENSG00000182853						69	65	66					17																	4688744		2203	4300	6503	VMO1	SO:0001819	synonymous_variant	0			-	HGNC	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.522C>T	17.37:g.4688744G>A		Somatic	0	75	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	44	26.67	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Silent	SNP							pfam_VOMI,superfamily_VOMI	p.C174	ENST00000328739.5	37	c.522	CCDS11055.1	17																																																																																			-	pfam_VOMI,superfamily_VOMI		0.657	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMO1	protein_coding	OTTHUMT00000439587.1	G	NM_182566	-		4688744	-1	no_errors	ENST00000328739	ensembl	human	known	74_37	silent	SNP	0.918	A	A	4688744	G	A	4688744	2	1	118	1	0	0	0	0	0	0	0	1	17184	1079	38	1		1	VMO1	17	4688744	Silent	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	1060039	4688744	76506466	54	8827											
LRRC46	90506	genome.wustl.edu	37	chr17	45914249	45914249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgctacctggggtgccCatggctggggacagcagccc	14	16	0	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:45914249C>T	ENST00000269025.4	+	8	1092	c.729C>T	c.(727-729)ccC>ccT	p.P243P		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	243										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGGGGTGCCCATGGCTGGGG	0.667																																																	0								ENSG00000141294						62	64	63					17																	45914249		2203	4299	6502	LRRC46	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.729C>T	17.37:g.45914249C>T		Somatic	0	67	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A8K9Q0	Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P243	ENST00000269025.4	37	c.729	CCDS11518.1	17																																																																																			-	NULL		0.667	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC46	protein_coding	OTTHUMT00000441377.1	C	NM_033413	-		45914249	1	no_errors	ENST00000269025	ensembl	human	known	74_37	silent	SNP	0.012	T	T	45914249	C	T	45914249	2	4	118	1	0	0	0	0	0	0	0	1	9005	581	21	2		2	LRRC46	17	45914249	Silent	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09	41225505	45914249	35280961	55	8828											
MGAT5B	146664	genome.wustl.edu	37	chr17	74878347	74878347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagcagtgagctgcaccGggccggcggcgacctgcact	15	14	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:74878347G>A	ENST00000569840.2	+	3	870	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Missense_Mutation_p.R99Q|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R110Q|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R99Q	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	99					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						GAGCTGCACCGGGCCGGCGGC	0.687																																																	0								ENSG00000167889						25	23	24					17																	74878347		2202	4297	6499	MGAT5B	SO:0001583	missense	0			-	HGNC	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.296G>A	17.37:g.74878347G>A	ENSP00000456037:p.Arg99Gln	Somatic	0	62	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	24	61.90	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP							superfamily_PyrdxlP-dep_Trfase	p.R110Q	ENST00000569840.2	37	c.329	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009171	0.54361	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.52057	0.7;0.68	5.23	5.23	0.72850	.	0.221607	0.34178	N	0.004193	T	0.59115	0.2170	L	0.47716	1.5	0.49915	D	0.999835	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.986	T	0.51756	-0.8665	10	0.19590	T	0.45	-24.8568	14.2918	0.66284	0.0:0.0:1.0:0.0	.	110;99	Q3V5L5-2;Q3V5L5-5	.;.	Q	99;99;110	ENSP00000301618:R99Q;ENSP00000391227:R110Q	ENSP00000301618:R99Q	R	+	2	0	MGAT5B	72389942	0.925000	0.31364	0.945000	0.38365	0.053000	0.15095	2.707000	0.47143	2.428000	0.82296	0.561000	0.74099	CGG	-	NULL		0.687	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	protein_coding	OTTHUMT00000460624.2	G	NM_144677	-		74878347	1	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74878347	G	A	74878347	3	1	118	1	0	0	0	0	1	0	0	0	9551	1116	39	1	407	1	MGAT5B	17	74878347	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	28964098	74878347	6316863	56	8829											
ENGASE	64772	genome.wustl.edu	37	chr17	77082213	77082213	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctggggagggatgagtgatGactctccgggcagggagctg	20	7	1	3			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr17:77082213G>T	ENST00000579016.1	+	14	2014	c.2014G>T	c.(2014-2016)Gac>Tac	p.D672Y		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	672						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GATGAGTGATGACTCTCCGGG	0.627																																																	0								ENSG00000167280						53	63	59					17																	77082213		2115	4228	6343	ENGASE	SO:0001583	missense	0			-	HGNC	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.2014G>T	17.37:g.77082213G>T	ENSP00000462333:p.Asp672Tyr	Somatic	0	69	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP							pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.D672Y	ENST00000579016.1	37	c.2014	CCDS42394.1	17	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368665	0.24771	.	.	ENSG00000167280	ENST00000545583	.	.	.	3.85	-7.7	0.01259	.	0.908172	0.09569	N	0.784462	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	9	0.46703	T	0.11	-5.6932	0.0943	0.00042	0.2991:0.247:0.1806:0.2734	.	672	Q8NFI3	ENASE_HUMAN	Y	672	.	ENSP00000438577:D672Y	D	+	1	0	ENGASE	74593808	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.848000	0.04326	-1.252000	0.02491	-0.444000	0.05651	GAC	-	NULL		0.627	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	protein_coding	OTTHUMT00000395807.1	G	NM_022759	-		77082213	1	no_errors	ENST00000579016	ensembl	human	known	74_37	missense	SNP	0.000	T	T	77082213	G	T	77082213	3	4	118	1	0	0	0	0	1	0	0	0	5120	1290	45	3	2068	3	ENGASE	17	77082213	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	2203866	77082213	4112997	57	8830											
AQP4	361	genome.wustl.edu	37	chr18	24436335	24436335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcttccttttgtttgcTgggcagctttgctgaaggct	12	8	0	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr18:24436335T>C	ENST00000383168.4	-	5	940	c.812A>G	c.(811-813)cAg>cGg	p.Q271R	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.Q249R|AQP4_ENST00000581374.1_Missense_Mutation_p.Q249R	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	271					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.Q271R(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TTTTGTTTGCTGGGCAGCTTT	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000171885						245	215	225					18																	24436335		2203	4300	6503	AQP4	SO:0001583	missense	0			-	HGNC	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.812A>G	18.37:g.24436335T>C	ENSP00000372654:p.Gln271Arg	Somatic	0	48	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	38	42.42	P78564	Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.Q271R	ENST00000383168.4	37	c.812	CCDS11889.1	18	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668727	0.47677	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.86097	-2.07	5.75	5.75	0.90469	.	0.000000	0.32952	N	0.005444	T	0.78259	0.4255	L	0.27053	0.805	0.46416	D	0.999039	B	0.16802	0.019	B	0.17098	0.017	T	0.72620	-0.4238	10	0.32370	T	0.25	.	16.0475	0.80731	0.0:0.0:0.0:1.0	.	271	P55087	AQP4_HUMAN	R	271;251;167	ENSP00000372654:Q271R	ENSP00000372654:Q271R	Q	-	2	0	AQP4	22690333	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	2.725000	0.47294	2.193000	0.70182	0.528000	0.53228	CAG	-	NULL		0.468	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	protein_coding	OTTHUMT00000254914.2	T	NM_001650, NM_004028	-		24436335	-1	no_errors	ENST00000383168	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24436335	T	C	24436335	3	2	118	1	0	0	0	0	1	0	0	0	828	1580	55	5	163	5	AQP4	18	24436335	Missense_Mutation	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09		24436335	53640913	58	8831											
C18orf54	162681	genome.wustl.edu	37	chr18	51887076	51887076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactataaagataagctgtAcagatctgcttctcaagctc	6	10	3	2	rs199598871		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr18:51887076A>G	ENST00000300091.5	+	2	466	c.134A>G	c.(133-135)tAc>tGc	p.Y45C	STARD6_ENST00000581310.1_5'Flank|STARD6_ENST00000577499.1_5'Flank|C18orf54_ENST00000382911.4_Missense_Mutation_p.Y45C|C18orf54_ENST00000578138.1_Intron|STARD6_ENST00000584040.1_5'Flank	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	45						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GATAAGCTGTACAGATCTGCT	0.413																																																	0								ENSG00000166845						132	125	127					18																	51887076		2203	4300	6503	C18orf54	SO:0001583	missense	0			-	HGNC	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.134A>G	18.37:g.51887076A>G	ENSP00000300091:p.Tyr45Cys	Somatic	0	62	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	78	17.02	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP							NULL	p.Y45C	ENST00000300091.5	37	c.134	CCDS11956.1	18	.	.	.	.	.	.	.	.	.	.	A	15.43	2.832763	0.50845	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	D;D	0.97404	-4.37;-4.37	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	D	0.98248	0.9420	M	0.78049	2.395	0.36377	D	0.86165	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99971	1.2023	10	0.87932	D	0	-1.7147	14.8058	0.69956	1.0:0.0:0.0:0.0	.	45;45	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	C	45	ENSP00000300091:Y45C;ENSP00000372368:Y45C	ENSP00000300091:Y45C	Y	+	2	0	C18orf54	50141074	1.000000	0.71417	0.925000	0.36789	0.261000	0.26267	6.174000	0.71943	2.145000	0.66743	0.533000	0.62120	TAC	-	NULL		0.413	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf54	protein_coding	OTTHUMT00000256001.1	A	NM_173529	rs199598871		51887076	1	no_errors	ENST00000300091	ensembl	human	known	74_37	missense	SNP	0.985	G	G	51887076	A	G	51887076	3	3	118	1	0	0	0	0	1	0	0	0	1906	391	14	5	136	5	C18orf54	18	51887076	Missense_Mutation	SNP	A	TCGA-DX-AB2O-01A-12D-A38Z-09	27450741	51887076	26190172	59	8832											
GATAD2A	54815	genome.wustl.edu	37	chr19	19612198	19612198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccaaggccgagcccacCgctgccccacaccccgtgct	10	21	0	0			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr19:19612198C>T	ENST00000360315.3	+	9	1785	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	GATAD2A_ENST00000358713.3_Silent_p.T491T|GATAD2A_ENST00000537887.1_Silent_p.T120T|GATAD2A_ENST00000252577.5_Silent_p.T491T|GATAD2A_ENST00000429563.2_Silent_p.T319T|GATAD2A_ENST00000404158.1_Silent_p.T492T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	491					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T491T(1)|p.T348T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGAGCCCACCGCTGCCCCAC	0.697																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000167491						9	9	9					19																	19612198		2183	4259	6442	GATAD2A	SO:0001819	synonymous_variant	0			-	HGNC	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1473C>T	19.37:g.19612198C>T		Somatic	0	20	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP							pfam_Znf_GATA,pfscan_Znf_GATA	p.T491	ENST00000360315.3	37	c.1473	CCDS12402.2	19	.	.	.	.	.	.	.	.	.	.	C	3.789	-0.044037	0.07452	.	.	ENSG00000167491	ENST00000418032	.	.	.	3.92	-4.03	0.04021	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29518	-1.0009	4	.	.	.	-26.7577	3.8941	0.09131	0.2739:0.2804:0.0:0.4457	.	.	.	.	C	118	.	.	R	+	1	0	GATAD2A	19473198	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.812000	0.04496	-0.608000	0.05731	-0.148000	0.13756	CGC	-	NULL		0.697	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	protein_coding	OTTHUMT00000326671.4	C	NM_017660	-		19612198	1	no_errors	ENST00000358713	ensembl	human	known	74_37	silent	SNP	0.000	T	T	19612198	C	T	19612198	2	4	118	1	0	0	0	0	0	0	0	1	6262	639	23	1		1	GATAD2A	19	19612198	Silent	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		19612198	39516785	60	8833											
AXL	558	genome.wustl.edu	37	chr19	41758777	41758777	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttccagggttctgaacgaGagagcttcccagcacctgtg	12	11	1	2			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr19:41758777G>A	ENST00000301178.4	+	16	2021	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	AXL_ENST00000359092.3_Missense_Mutation_p.E602K|AXL_ENST00000593513.1_Missense_Mutation_p.E343K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTCTGAACGAGAGAGCTTCCC	0.592																																																	0								ENSG00000167601						93	95	94					19																	41758777		2203	4300	6503	AXL	SO:0001583	missense	0			-	HGNC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1831G>A	19.37:g.41758777G>A	ENSP00000301178:p.Glu611Lys	Somatic	0	94	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	108	26.53	Q8N5L2|Q9UD27	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E611K	ENST00000301178.4	37	c.1831	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911266	0.72983	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.76448	-1.02;-0.95	4.81	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.062965	0.64402	D	0.000010	T	0.75635	0.3876	L	0.28694	0.88	0.52501	D	0.999957	P;P	0.49783	0.911;0.928	P;P	0.50378	0.506;0.639	T	0.76782	-0.2832	10	0.44086	T	0.13	-15.7764	16.8155	0.85733	0.0:0.0:1.0:0.0	.	602;611	P30530-2;P30530	.;UFO_HUMAN	K	611;602	ENSP00000301178:E611K;ENSP00000351995:E602K	ENSP00000301178:E611K	E	+	1	0	AXL	46450617	1.000000	0.71417	0.981000	0.43875	0.907000	0.53573	5.257000	0.65473	2.506000	0.84524	0.655000	0.94253	GAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.592	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	G		-		41758777	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41758777	G	A	41758777	3	1	118	1	0	0	0	0	1	0	0	0	1238	943	33	2	1893	2	AXL	19	41758777	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	22146579	41758777	17370206	61	8834											
KLK8	11202	genome.wustl.edu	37	chr19	51504392	51504392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagagcaggaacatccacGtcttggccgcacgaggtcgg	14	12	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr19:51504392G>A	ENST00000600767.1	-	3	521	c.32C>T	c.(31-33)aCg>aTg	p.T11M	KLK8_ENST00000593490.1_Missense_Mutation_p.T11M|KLK8_ENST00000391806.2_Missense_Mutation_p.T11M|KLK8_ENST00000291726.7_Missense_Mutation_p.T11M|KLK8_ENST00000320838.5_Missense_Mutation_p.T11M|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_3'UTR|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.T11M|KLK8_ENST00000598195.1_5'Flank			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	11					cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GAACATCCACGTCTTGGCCGC	0.667																																																	0								ENSG00000129455						44	36	39					19																	51504392		2203	4300	6503	KLK8	SO:0001583	missense	0			-	HGNC	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.32C>T	19.37:g.51504392G>A	ENSP00000472016:p.Thr11Met	Somatic	0	65	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T11M	ENST00000600767.1	37	c.32	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053694	0.36277	.	.	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619;ENST00000320838	D;D;D	0.90844	-2.67;-2.38;-2.74	4.96	-7.08	0.01558	.	0.580895	0.14483	N	0.316836	T	0.68072	0.2961	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.33022	0.394;0.079;0.021;0.164	B;B;B;B	0.21917	0.037;0.011;0.001;0.01	T	0.67421	-0.5675	10	0.16896	T	0.51	.	4.9786	0.14153	0.2614:0.0:0.1888:0.5498	.	11;11;11;11	O60259-4;O60259-3;O60259;O60259-2	.;.;KLK8_HUMAN;.	M	11	ENSP00000375682:T11M;ENSP00000291726:T11M;ENSP00000341555:T11M	ENSP00000291726:T11M	T	-	2	0	KLK8	56196204	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.546000	0.06062	-0.643000	0.05473	-0.475000	0.04921	ACG	-	NULL		0.667	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	protein_coding	OTTHUMT00000465032.2	G	NM_007196	-		51504392	-1	no_errors	ENST00000391806	ensembl	human	known	74_37	missense	SNP	0.000	A	A	51504392	G	A	51504392	3	1	118	1	0	0	0	0	1	0	0	0	8412	1145	40	1	905	1	KLK8	19	51504392	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	9745615	51504392	7624591	62	8835											
ZNF331	55422	genome.wustl.edu	37	chr19	54080308	54080308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaatgtaaagaatgtaAgaaggccttccgttggggca	12	5	0	3			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr19:54080308A>T	ENST00000253144.9	+	7	1827	c.494A>T	c.(493-495)aAg>aTg	p.K165M	ZNF331_ENST00000411977.2_Missense_Mutation_p.K165M|ZNF331_ENST00000511154.1_Missense_Mutation_p.K165M|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.K165M|ZNF331_ENST00000511593.2_Missense_Mutation_p.K165M|ZNF331_ENST00000513999.1_Missense_Mutation_p.K165M|ZNF331_ENST00000512387.1_Missense_Mutation_p.K165M	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAAGAATGTAAGAAGGCCTTC	0.428			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0								ENSG00000130844						94	101	99					19																	54080308		2203	4300	6503	ZNF331	SO:0001583	missense	0			-	HGNC	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.494A>T	19.37:g.54080308A>T	ENSP00000253144:p.Lys165Met	Somatic	0	68	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	Q96GJ4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K165M	ENST00000253144.9	37	c.494	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	A	13.59	2.283359	0.40394	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387;ENST00000514022;ENST00000505949	T;T;T;T;T;T;T;T;T	0.61158	3.05;3.05;3.05;3.05;3.05;3.05;3.05;2.4;0.13	3.68	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36628	N	0.002495	T	0.65883	0.2734	M	0.70595	2.14	0.24711	N	0.993203	D	0.69078	0.997	P	0.62813	0.907	T	0.56092	-0.8036	10	0.87932	D	0	.	4.3866	0.11319	0.7543:0.0:0.2457:0.0	.	165	Q9NQX6	ZN331_HUMAN	M	165	ENSP00000253144:K165M;ENSP00000427439:K165M;ENSP00000393817:K165M;ENSP00000393336:K165M;ENSP00000421014:K165M;ENSP00000423156:K165M;ENSP00000421728:K165M;ENSP00000422471:K165M;ENSP00000427532:K165M	ENSP00000253144:K165M	K	+	2	0	ZNF331	58772120	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.243000	0.32767	1.665000	0.50811	0.460000	0.39030	AAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	protein_coding	OTTHUMT00000371366.1	A	NM_018555	-		54080308	1	no_errors	ENST00000253144	ensembl	human	known	74_37	missense	SNP	0.996	T	T	54080308	A	T	54080308	3	4	118	1	0	0	0	0	1	0	0	0	17856	72	3	5	504	5	ZNF331	19	54080308	Missense_Mutation	SNP	A	TCGA-DX-AB2O-01A-12D-A38Z-09	2575916	54080308	5048675	63	8836											
PCNT	5116	genome.wustl.edu	37	chr21	47819574	47819574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggctatacagaaagagtCggcagatagacaagtgttaa	11	5	0	4			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr21:47819574C>T	ENST00000359568.5	+	25	4762	c.4655C>T	c.(4654-4656)tCg>tTg	p.S1552L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1552					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGAAAGAGTCGGCAGATAGA	0.378																																																	0								ENSG00000160299						99	106	104					21																	47819574		2203	4300	6503	PCNT	SO:0001583	missense	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4655C>T	21.37:g.47819574C>T	ENSP00000352572:p.Ser1552Leu	Somatic	0	72	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	4	85.19	O43152|Q7Z7C9	Missense_Mutation	SNP							pfam_PACT_domain	p.S1552L	ENST00000359568.5	37	c.4655	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	0.936	-0.711223	0.03230	.	.	ENSG00000160299	ENST00000359568	T	0.53423	0.62	5.74	3.39	0.38822	.	1.856150	0.04108	N	0.314038	T	0.19967	0.0480	N	0.00690	-1.25	0.09310	N	0.999991	B;B	0.12630	0.006;0.003	B;B	0.01281	0.0;0.0	T	0.18555	-1.0333	10	0.26408	T	0.33	.	7.4418	0.27187	0.0:0.1963:0.0:0.8037	.	1434;1552	O95613-2;O95613	.;PCNT_HUMAN	L	1552	ENSP00000352572:S1552L	ENSP00000352572:S1552L	S	+	2	0	PCNT	46644002	0.126000	0.22350	0.015000	0.15790	0.738000	0.42128	0.775000	0.26689	0.444000	0.26612	-0.310000	0.09108	TCG	-	NULL		0.378	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	C	NM_006031	-		47819574	1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	SNP	0.515	T	T	47819574	C	T	47819574	3	4	118	1	0	0	0	0	1	0	0	0	11592	893	31	1	4753	1	PCNT	21	47819574	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		47819574	310321	64	8837											
OSBP2	23762	genome.wustl.edu	37	chr22	31266576	31266576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccctgacagagctggaCggcctcaagatcccatctga	10	15	2	4	rs149092338		TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chr22:31266576C>T	ENST00000332585.6	+	3	1118	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	OSBP2_ENST00000407373.1_Silent_p.D165D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.D173D|OSBP2_ENST00000446658.2_Silent_p.D338D|OSBP2_ENST00000382310.3_Silent_p.D338D|OSBP2_ENST00000437268.2_Silent_p.D80D	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	338					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.D338D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAGAGCTGGACGGCCTCAAGA	0.557																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000184792						55	63	61					22																	31266576		2143	4236	6379	OSBP2	SO:0001819	synonymous_variant	0			-	HGNC		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.1014C>T	22.37:g.31266576C>T		Somatic	0	34	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D338	ENST00000332585.6	37	c.1014	CCDS43002.1	22																																																																																			-	NULL		0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	protein_coding	OTTHUMT00000321547.2	C	NM_030758	rs149092338		31266576	1	no_errors	ENST00000332585	ensembl	human	known	74_37	silent	SNP	0.958	T	T	31266576	C	T	31266576	2	4	118	1	0	0	0	0	0	0	0	1	11276	535	19	1		1	OSBP2	22	31266576	Silent	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		31266576	20037990	65	8838											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765824	27765824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactttgaaagtggtcacaCaaataatgtcttccaggcca	8	9	2	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chrX:27765824C>A	ENST00000451261.2	+	5	1211	c.812C>A	c.(811-813)aCa>aAa	p.T271K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	271										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGTGGTCACACAAATAATGTC	0.532																																																	0								ENSG00000189186						202	151	166					X																	27765824		692	1591	2283	DCAF8L2	SO:0001583	missense	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.812C>A	X.37:g.27765824C>A	ENSP00000462745:p.Thr271Lys	Somatic	0	46	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	B2RXH9|J3KT06	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T271K	ENST00000451261.2	37	c.812	CCDS59162.1	X																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.532	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	C	XM_293354	-		27765824	1	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	SNP	0.069	A	A	27765824	C	A	27765824	3	1	118	1	0	0	0	0	1	0	0	0	4280	478	17	3	814	3	DCAF8L2	23	27765824	Missense_Mutation	SNP	C	TCGA-DX-AB2O-01A-12D-A38Z-09		27765824	127504736	66	8839											
CYBB	1536	genome.wustl.edu	37	chrX	37642769	37642769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcactggccagggccccTgcagcctgcctgaatttcaa	11	15	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chrX:37642769T>C	ENST00000378588.4	+	3	235	c.168T>C	c.(166-168)ccT>ccC	p.P56P	CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Silent_p.P24P	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	56	Ferric oxidoreductase.				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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CCAGGGCCCCTGCAGCCTGCC	0.532																																																	0								ENSG00000165168						75	61	65					X																	37642769		2202	4300	6502	CYBB	SO:0001819	synonymous_variant	0			-	HGNC	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.168T>C	X.37:g.37642769T>C		Somatic	0	42	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	A8K138|Q2PP16	Silent	SNP							pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.P56	ENST00000378588.4	37	c.168	CCDS14242.1	X																																																																																			-	NULL		0.532	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	protein_coding	OTTHUMT00000080881.1	T		-		37642769	1	no_errors	ENST00000378588	ensembl	human	known	74_37	silent	SNP	1.000	C	C	37642769	T	C	37642769	2	2	118	1	0	0	0	0	0	0	0	1	4135	1567	55	5		5	CYBB	23	37642769	Silent	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09	9876945	37642769	117627791	67	8840											
NAP1L2	4674	genome.wustl.edu	37	chrX	72433974	72433974	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaattggccgctctagtttGaagctttttaagggctaaca	9	7	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chrX:72433974G>T	ENST00000373517.3	-	1	710	c.355C>A	c.(355-357)Caa>Aaa	p.Q119K	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	119					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GCTCTAGTTTGAAGCTTTTTA	0.383																																																	0								ENSG00000186462						123	115	118					X																	72433974		2203	4300	6503	NAP1L2	SO:0001583	missense	0			-	HGNC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.355C>A	X.37:g.72433974G>T	ENSP00000362616:p.Gln119Lys	Somatic	0	53	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP							pfam_NAP_family	p.Q119K	ENST00000373517.3	37	c.355	CCDS14423.1	X	.	.	.	.	.	.	.	.	.	.	g	18.96	3.734541	0.69189	.	.	ENSG00000186462	ENST00000373517	T	0.54866	0.55	3.31	3.31	0.37934	.	0.000000	0.85682	U	0.000000	T	0.77916	0.4202	H	0.95645	3.7	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	D	0.83994	0.0339	10	0.87932	D	0	-0.3618	11.7224	0.51689	0.0:0.0:1.0:0.0	.	119	Q9ULW6	NP1L2_HUMAN	K	119	ENSP00000362616:Q119K	ENSP00000362616:Q119K	Q	-	1	0	NAP1L2	72350699	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.795000	0.75140	1.903000	0.55091	0.600000	0.82982	CAA	-	pfam_NAP_family		0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	protein_coding	OTTHUMT00000057225.1	G	NM_021963	-		72433974	-1	no_errors	ENST00000373517	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72433974	G	T	72433974	3	4	118	1	0	0	0	0	1	0	0	0	10159	1299	45	3	1031	3	NAP1L2	23	72433974	Missense_Mutation	SNP	G	TCGA-DX-AB2O-01A-12D-A38Z-09	34791205	72433974	82836586	68	8841											
HMGB3	3149	genome.wustl.edu	37	chrX	150155663	150155663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatccacaaaccccggcaTctctattggagacgtggcaa	8	13	1	1			TCGA-DX-AB2O-01A-12D-A38Z-09	TCGA-DX-AB2O-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896a657f-b6ac-4dc4-95da-4dc85bee201b	7f1a23c3-6312-405e-bcd0-42890136bd2b	g.chrX:150155663T>G	ENST00000325307.7	+	4	449	c.353T>G	c.(352-354)aTc>aGc	p.I118S	HMGB3_ENST00000448905.2_Missense_Mutation_p.I118S	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	118					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCCGGCATCTCTATTGGA	0.433																																																	0								ENSG00000029993						45	44	45					X																	150155663		2199	4296	6495	HMGB3	SO:0001583	missense	0			-	HGNC	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.353T>G	X.37:g.150155663T>G	ENSP00000359393:p.Ile118Ser	Somatic	0	58	0		0.662220224424103				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	20	47.37	O95556|Q6NS40	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.I118S	ENST00000325307.7	37	c.353	CCDS35428.1	X	.	.	.	.	.	.	.	.	.	.	t	23.5	4.421537	0.83559	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82	4.95	4.95	0.65309	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.141454	0.47852	D	0.000217	D	0.97917	0.9315	L	0.47716	1.5	0.49389	D	0.999782	D	0.64830	0.994	P	0.60886	0.88	D	0.98395	1.0565	10	0.66056	D	0.02	.	12.8894	0.58064	0.0:0.0:0.0:1.0	.	118	O15347	HMGB3_HUMAN	S	118	ENSP00000410354:I118S;ENSP00000359393:I118S;ENSP00000405601:I118S;ENSP00000442758:I118S;ENSP00000417027:I118S	ENSP00000359393:I118S	I	+	2	0	HMGB3	149906321	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.884000	0.87274	1.633000	0.50488	0.430000	0.28490	ATC	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.433	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	protein_coding	OTTHUMT00000060867.1	T	NM_005342	-		150155663	1	no_errors	ENST00000325307	ensembl	human	known	74_37	missense	SNP	1.000	G	G	150155663	T	G	150155663	3	3	118	1	0	0	0	0	1	0	0	0	7229	1435	50	5	363	5	HMGB3	23	150155663	Missense_Mutation	SNP	T	TCGA-DX-AB2O-01A-12D-A38Z-09	77721689	150155663	5114897	69	8842											
VPS13D	55187	genome.wustl.edu	37	chr1	12382770	12382770	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgttggagaggaaatcagaGaagggacaagacacacctta	13	7	1	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr1:12382770G>A	ENST00000358136.3	+	34	8012	c.7882G>A	c.(7882-7884)Gaa>Aaa	p.E2628K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2628K	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)		GGAAATCAGAGAAGGGACAAG	0.468																																																	0								ENSG00000048707						87	88	88					1																	12382770		2203	4300	6503	VPS13D	SO:0001583	missense	0			-	HGNC	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.7882G>A	1.37:g.12382770G>A	ENSP00000350854:p.Glu2628Lys	Somatic	0	30	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E2628K	ENST00000358136.3	37	c.7882	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070425	0.76301	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.53640	0.63;0.61	5.86	5.86	0.93980	UBA-like (1);	0.292909	0.31312	N	0.007866	T	0.35307	0.0927	N	0.22421	0.69	0.80722	D	1	B;B;B	0.27559	0.181;0.015;0.09	B;B;B	0.24541	0.054;0.019;0.024	T	0.17776	-1.0358	10	0.09590	T	0.72	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	535;2628;2628	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	K	2628	ENSP00000348666:E2628K;ENSP00000350854:E2628K	ENSP00000348666:E2628K	E	+	1	0	VPS13D	12305357	1.000000	0.71417	0.986000	0.45419	0.910000	0.53928	4.395000	0.59678	2.777000	0.95525	0.655000	0.94253	GAA	-	superfamily_UBA-like		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	G	NM_015378	-		12382770	1	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	SNP	0.993	A	A	12382770	G	A	12382770	3	1	119	1	0	0	0	0	1	0	0	0	17199	943	33	2	8012	2	VPS13D	1	12382770	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		12382770	236867851	1	8843											
GRIK3	2899	genome.wustl.edu	37	chr1	37271869	37271869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgttgttcttcaccagcGccgatggcttgctgctcatg	10	14	3	0			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr1:37271869G>A	ENST00000373091.3	-	14	2166	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A717V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	717					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)			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)				CTTCACCAGCGCCGATGGCTT	0.592																																																	0								ENSG00000163873						106	92	97					1																	37271869		2203	4300	6503	GRIK3	SO:0001583	missense	0			-	HGNC	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.2150C>T	1.37:g.37271869G>A	ENSP00000362183:p.Ala717Val	Somatic	0	26	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	13	70.21	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A717V	ENST00000373091.3	37	c.2150	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	G	9.624	1.134634	0.21123	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.09073	3.02;3.02	5.48	5.48	0.80851	Ionotropic glutamate receptor (2);	0.069574	0.64402	D	0.000013	T	0.03095	0.0091	N	0.00966	-1.09	0.49130	D	0.999752	B;B	0.15473	0.002;0.013	B;B	0.09377	0.003;0.004	T	0.38802	-0.9644	10	0.02654	T	1	.	19.3336	0.94306	0.0:0.0:1.0:0.0	.	717;717	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	717	ENSP00000362183:A717V;ENSP00000362185:A717V	ENSP00000362183:A717V	A	-	2	0	GRIK3	37044456	0.999000	0.42202	0.999000	0.59377	0.979000	0.70002	6.604000	0.74150	2.566000	0.86566	0.549000	0.68633	GCG	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	G	NM_000831	-		37271869	-1	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37271869	G	A	37271869	3	1	119	1	0	0	0	0	1	0	0	0	6777	1087	38	1	621	1	GRIK3	1	37271869	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	24889099	37271869	211978752	2	8844											
C1orf104	23623	genome.wustl.edu	37	chr1	155290825	155290825	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagaccgatggacctggGcacgaggggcggggcaggac	20	9	0	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr1:155290825G>C	ENST00000368352.5	+	1	65				RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368354.3_Intron	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATGGACCTGGGCACGAGGGGC	0.642																																																	0								ENSG00000225855						51	61	57					1																	155290825		2021	4156	6177	RUSC1-AS1	SO:0001627	intron_variant	0			-	HGNC	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-87+43G>C	1.37:g.155290825G>C		Somatic	0	23	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP							-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			-	-		0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1-AS1	protein_coding	OTTHUMT00000039071.1	G		-		155290825	-1	no_errors	ENST00000450199	ensembl	human	known	74_37	rna	SNP	0.007	C	C	155290825	G	C	155290825	1	2	119	0	1	0	0	0	0	0	0	0	1980	1203	42	4		4	C1orf104	1	155290825	Intron	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	118018956	155290825	93959796	3	8845											
CRB1	23418	genome.wustl.edu	37	chr1	197398635	197398635	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggatgacttctcctgTtcctgtcctgccctcacaag	10	14	2	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr1:197398635T>A	ENST00000367400.3	+	8	2868	c.2733T>A	c.(2731-2733)tgT>tgA	p.C911*	CRB1_ENST00000535699.1_Nonsense_Mutation_p.C887*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.C392*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Nonsense_Mutation_p.C799*|CRB1_ENST00000367397.1_Nonsense_Mutation_p.C292*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	911	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						ACTTCTCCTGTTCCTGTCCTG	0.537																																																	0								ENSG00000134376						177	158	165					1																	197398635		2203	4300	6503	CRB1	SO:0001587	stop_gained	0			-	HGNC		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.2733T>A	1.37:g.197398635T>A	ENSP00000356370:p.Cys911*	Somatic	0	47	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C911*	ENST00000367400.3	37	c.2733	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	T	38	6.745526	0.97809	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	.	.	.	5.55	0.493	0.16878	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8936	0.63755	0.0:0.8558:0.0:0.1442	.	.	.	.	X	887;911;799;392;292;560	.	ENSP00000356367:C292X	C	+	3	2	CRB1	195665258	0.996000	0.38824	0.854000	0.33618	0.737000	0.42083	0.447000	0.21710	0.087000	0.17167	0.533000	0.62120	TGT	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.537	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	T	NM_201253	-		197398635	1	no_errors	ENST00000367400	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	197398635	T	A	197398635	4	1	119	1	0	0	0	0	0	1	0	0	3850	1731	60	5	2763	5	CRB1	1	197398635	Nonsense_Mutation	SNP	T	TCGA-DX-AB2P-01A-11D-A387-09	42107810	197398635	51851986	4	8846											
PTPRC	5788	genome.wustl.edu	37	chr1	198608430	198608430	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggcttaaactcttggCatttggctttgcctttctgg	10	8	2	0			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr1:198608430C>G	ENST00000367376.2	+	2	197	c.26C>G	c.(25-27)gCa>gGa	p.A9G	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000367364.1_Missense_Mutation_p.A11G|PTPRC_ENST00000352140.3_Missense_Mutation_p.A9G|PTPRC_ENST00000442510.2_Missense_Mutation_p.A11G|PTPRC_ENST00000348564.6_Missense_Mutation_p.A11G|PTPRC_ENST00000598951.1_Missense_Mutation_p.A9G|PTPRC_ENST00000413409.2_Missense_Mutation_p.A11G|PTPRC_ENST00000594404.1_Missense_Mutation_p.A9G	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	9					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAACTCTTGGCATTTGGCTTT	0.358																																																	0								ENSG00000081237						123	118	120					1																	198608430		2203	4300	6503	PTPRC	SO:0001583	missense	0			-	HGNC	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.26C>G	1.37:g.198608430C>G	ENSP00000356346:p.Ala9Gly	Somatic	0	81	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	45	45.78	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP							pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A11G	ENST00000367376.2	37	c.32		1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588034	0.86851	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564;ENST00000367364;ENST00000413409;ENST00000418674	T	0.03272	3.99	6.02	6.02	0.97574	Protein tyrosine phosphatase, receptor type, N terminal (1);	0.173638	0.27720	N	0.018139	T	0.15305	0.0369	L	0.52573	1.65	0.35103	D	0.765449	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.984;0.996;0.991;0.994;0.962;0.977;0.977;0.991	T	0.00443	-1.1736	10	0.87932	D	0	.	17.703	0.88301	0.0:1.0:0.0:0.0	.	11;11;11;9;11;9;9;9	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;B1ALS3;E9PC28;P08575;Q0VAE8	.;.;.;.;.;.;PTPRC_HUMAN;.	G	9;11;11;9;9;9;9;9;9;9;9;9;9	ENSP00000193532:A9G	ENSP00000271610:A9G	A	+	2	0	PTPRC	196875053	0.992000	0.36948	0.964000	0.40570	0.937000	0.57800	3.238000	0.51352	2.850000	0.98022	0.650000	0.86243	GCA	-	pirsf_Leukocyte_common_ag,pfam_PTP_recept_N		0.358	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	protein_coding		C		-		198608430	1	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	SNP	0.992	G	G	198608430	C	G	198608430	3	3	119	1	0	0	0	0	1	0	0	0	12805	710	25	4	28	4	PTPRC	1	198608430	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	1209795	198608430	50642191	5	8847											
ZNF695	57116	genome.wustl.edu	37	chr1	247150681	247150681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattcctcacatttgtatGgtttctcaccagtatgaatt	5	10	2	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr1:247150681G>T	ENST00000339986.7	-	4	1283	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	379					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACATTTGTATGGTTTCTCACC	0.408																																																	0								ENSG00000197472						50	54	53					1																	247150681		2161	4274	6435	ZNF695	SO:0001583	missense	0			-	HGNC		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1136C>A	1.37:g.247150681G>T	ENSP00000341236:p.Pro379Gln	Somatic	0	42	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	23	50.00	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P379Q	ENST00000339986.7	37	c.1136	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875128	0.51695	.	.	ENSG00000197472	ENST00000339986	T	0.17213	2.29	0.642	-0.575	0.11734	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20941	0.0504	M	0.87038	2.855	0.29547	N	0.851655	B	0.28971	0.229	B	0.21546	0.035	T	0.18587	-1.0332	9	0.87932	D	0	.	5.0372	0.14440	0.2669:0.0:0.7331:0.0	.	379	Q8IW36	ZN695_HUMAN	Q	379	ENSP00000341236:P379Q	ENSP00000341236:P379Q	P	-	2	0	ZNF695	245217304	0.992000	0.36948	0.002000	0.10522	0.793000	0.44817	2.118000	0.41949	-0.247000	0.09597	0.205000	0.17691	CCA	-	pfscan_Znf_C2H2		0.408	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	protein_coding	OTTHUMT00000097823.5	G	NM_020394	-		247150681	-1	no_errors	ENST00000339986	ensembl	human	known	74_37	missense	SNP	0.990	T	T	247150681	G	T	247150681	3	4	119	1	0	0	0	0	1	0	0	0	18105	1348	47	3	415	3	ZNF695	1	247150681	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	48542251	247150681	2099940	6	8848											
DNAH6	1768	genome.wustl.edu	37	chr2	84885458	84885458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatattgaatcttttccaaCgttatgttgatgaaggttta	7	4	1	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr2:84885458C>T	ENST00000237449.6	+	35	5808	c.5800C>T	c.(5800-5802)Cgt>Tgt	p.R1934C	DNAH6_ENST00000602588.1_5'UTR|DNAH6_ENST00000389394.3_Missense_Mutation_p.R1934C|DNAH6_ENST00000398278.2_Missense_Mutation_p.R1934C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1934	AAA 2. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCTTTTCCAACGTTATGTTGA	0.323																																																	0								ENSG00000115423						104	89	94					2																	84885458		692	1590	2282	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5800C>T	2.37:g.84885458C>T	ENSP00000237449:p.Arg1934Cys	Somatic	0	94	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	95	33.10	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1934C	ENST00000237449.6	37	c.5800	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636419	0.67130	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	D;D;D	0.87491	-2.26;-2.26;-2.26	4.92	3.97	0.46021	.	.	.	.	.	D	0.88142	0.6357	L	0.56769	1.78	0.45439	D	0.998415	D	0.61697	0.99	P	0.51657	0.676	D	0.88346	0.2978	9	0.51188	T	0.08	.	13.2167	0.59865	0.16:0.84:0.0:0.0	.	1934	Q9C0G6	DYH6_HUMAN	C	1934	ENSP00000374045:R1934C;ENSP00000381326:R1934C;ENSP00000237449:R1934C	ENSP00000237449:R1934C	R	+	1	0	DNAH6	84738969	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	2.581000	0.46077	2.415000	0.81967	0.544000	0.68410	CGT	-	NULL		0.323	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	C	NM_001370	-		84885458	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	0.996	T	T	84885458	C	T	84885458	3	4	119	1	0	0	0	0	1	0	0	0	4607	536	19	1	5938	1	DNAH6	2	84885458	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09		84885458	158313915	7	8849											
NUP210	23225	genome.wustl.edu	37	chr3	13359266	13359266	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgcattgggagatgtgggtGatgaggcagcgaaatctagg	17	4	1	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr3:13359266G>T	ENST00000254508.5	-	40	5661	c.5579C>A	c.(5578-5580)tCa>tAa	p.S1860*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1860					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGATGTGGGTGATGAGGCAGC	0.602																																																	0								ENSG00000132182						117	110	113					3																	13359266		2203	4300	6503	NUP210	SO:0001587	stop_gained	0			-	HGNC	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5579C>A	3.37:g.13359266G>T	ENSP00000254508:p.Ser1860*	Somatic	0	32	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP							pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.S1860*	ENST00000254508.5	37	c.5579	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	G	44	11.222766	0.99533	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.51	5.51	0.81932	.	0.594205	0.16337	N	0.218899	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3844	14.9163	0.70801	0.0:0.0:1.0:0.0	.	.	.	.	X	1860	.	ENSP00000254508:S1860X	S	-	2	0	NUP210	13334266	0.094000	0.21725	0.201000	0.23476	0.261000	0.26267	1.985000	0.40668	2.605000	0.88082	0.655000	0.94253	TCA	-	NULL		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	protein_coding	OTTHUMT00000340085.1	G	NM_024923	-		13359266	-1	no_errors	ENST00000254508	ensembl	human	known	74_37	nonsense	SNP	0.087	T	T	13359266	G	T	13359266	4	4	119	1	0	0	0	0	0	1	0	0	10762	1294	45	3	88	3	NUP210	3	13359266	Nonsense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		13359266	184663164	8	8850											
KALRN	8997	genome.wustl.edu	37	chr3	124160810	124160810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgcaccctggctcggCggaatgctgaggtgtttctc	14	12	1	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr3:124160810C>T	ENST00000240874.3	+	19	3368	c.3211C>T	c.(3211-3213)Cgg>Tgg	p.R1071W	KALRN_ENST00000360013.3_Missense_Mutation_p.R1071W|KALRN_ENST00000460856.1_Missense_Mutation_p.R1062W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1071					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTGGCTCGGCGGAATGCTGA	0.567																																																	0								ENSG00000160145						57	53	54					3																	124160810		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3211C>T	3.37:g.124160810C>T	ENSP00000240874:p.Arg1071Trp	Somatic	0	71	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R1071W	ENST00000240874.3	37	c.3211	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174674	0.78452	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.44482	0.92;0.92;0.92	5.22	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;0.99;1.0	T	0.66681	-0.5862	10	0.87932	D	0	.	11.4421	0.50102	0.3348:0.6652:0.0:0.0	.	1062;417;1071;1071	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	W	1062;1071;1071	ENSP00000418611:R1062W;ENSP00000240874:R1071W;ENSP00000353109:R1071W	ENSP00000240874:R1071W	R	+	1	2	KALRN	125643500	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.055000	0.57441	2.872000	0.98467	0.650000	0.86243	CGG	-	NULL		0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000258843.4	C	NM_003947	-		124160810	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124160810	C	T	124160810	3	4	119	1	0	0	0	0	1	0	0	0	7977	759	27	1	3285	1	KALRN	3	124160810	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	110801544	124160810	73861620	9	8851											
RNASEN	29102	genome.wustl.edu	37	chr5	31526229	31526229	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagatggtgttctccctcGgtcataatcagatctgtacc	10	11	4	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr5:31526229G>A	ENST00000511367.2	-	4	1055	c.811C>T	c.(811-813)Cga>Tga	p.R271*	DROSHA_ENST00000513349.1_Nonsense_Mutation_p.R271*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.R271*|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000442743.1_Nonsense_Mutation_p.R271*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	271	Arg-rich.				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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTTCTCCCTCGGTCATAATCA	0.582																																																	0								ENSG00000113360						101	103	102					5																	31526229		2082	4211	6293	DROSHA	SO:0001587	stop_gained	0			-	HGNC	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.811C>T	5.37:g.31526229G>A	ENSP00000425979:p.Arg271*	Somatic	0	39	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.R271*	ENST00000511367.2	37	c.811	CCDS47195.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.43|13.43	2.233697|2.233697	0.39498|0.39498	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	.|.	.|.	.|.	4.55|4.55	3.6|3.6	0.41247|0.41247	.|.	.|0.185968	.|0.36338	.|N	.|0.002655	T|.	0.26484|.	0.0647|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24799|.	-1.0150|.	3|.	.|0.02654	.|T	.|1	-9.5588|-9.5588	12.0614|12.0614	0.53564|0.53564	0.0:0.0:0.7578:0.2422|0.0:0.0:0.7578:0.2422	.|.	.|.	.|.	.|.	L|X	100|271;271;271;271;264;264;69	.|.	.|ENSP00000265075:R264X	P|R	-|-	2|1	0|2	DROSHA|DROSHA	31561986|31561986	1.000000|1.000000	0.71417|0.71417	0.292000|0.292000	0.24919|0.24919	0.251000|0.251000	0.25915|0.25915	2.416000|2.416000	0.44644|0.44644	2.348000|2.348000	0.79779|0.79779	0.650000|0.650000	0.86243|0.86243	CCG|CGA	-	NULL		0.582	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	G	NM_013235	-		31526229	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	nonsense	SNP	0.881	A	A	31526229	G	A	31526229	4	1	119	1	0	0	0	0	0	1	0	0	13425	1124	39	1	3441	1	RNASEN	5	31526229	Nonsense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		31526229	149389031	10	8852											
NNT	23530	genome.wustl.edu	37	chr5	43702778	43702778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgttaattcagcagctcaAgaagatcccaactctattat	5	10	3	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr5:43702778A>G	ENST00000264663.5	+	21	3272	c.3051A>G	c.(3049-3051)caA>caG	p.Q1017Q	NNT_ENST00000512996.2_Silent_p.Q886Q|NNT_ENST00000344920.4_Silent_p.Q1017Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1017					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CAGCAGCTCAAGAAGATCCCA	0.348																																																	0								ENSG00000112992						81	77	79					5																	43702778		2203	4300	6503	NNT	SO:0001819	synonymous_variant	0			-	HGNC	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3051A>G	5.37:g.43702778A>G		Somatic	0	88	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	58	47.75	Q16796|Q2TB60|Q8N3V4	Silent	SNP							pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.Q1017	ENST00000264663.5	37	c.3051	CCDS3949.1	5																																																																																			-	pfam_NADH_DH_b		0.348	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	protein_coding	OTTHUMT00000214026.1	A	NM_182977	-		43702778	1	no_errors	ENST00000264663	ensembl	human	known	74_37	silent	SNP	0.944	G	G	43702778	A	G	43702778	2	3	119	1	0	0	0	0	0	0	0	1	10512	69	3	5		5	NNT	5	43702778	Silent	SNP	A	TCGA-DX-AB2P-01A-11D-A387-09	12176549	43702778	137212482	11	8853											
TCERG1	10915	genome.wustl.edu	37	chr5	145890060	145890060	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgtagaaaaaatttTacagaatgacaaacggtatc	8	4	0	4			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr5:145890060T>G	ENST00000296702.5	+	22	3190	c.3152T>G	c.(3151-3153)tTa>tGa	p.L1051*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.L1030*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1051	FF 6.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAAAATTTTACAGAATGAC	0.413																																																	0								ENSG00000113649						89	88	89					5																	145890060		2203	4300	6503	TCERG1	SO:0001587	stop_gained	0			-	HGNC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3152T>G	5.37:g.145890060T>G	ENSP00000296702:p.Leu1051*	Somatic	0	39	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	71	10.13	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP							pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.L1051*	ENST00000296702.5	37	c.3152	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	T	38	7.273512	0.98179	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7956	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	X	1051;1030	.	ENSP00000296702:L1051X	L	+	2	0	TCERG1	145870253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.990000	0.88215	2.367000	0.80283	0.528000	0.53228	TTA	-	pfam_FF_domain,smart_FF_domain		0.413	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	protein_coding	OTTHUMT00000251886.1	T	NM_001040006	-		145890060	1	no_errors	ENST00000296702	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	145890060	T	G	145890060	4	3	119	1	0	0	0	0	0	1	0	0	15692	1764	61	5	3238	5	TCERG1	5	145890060	Nonsense_Mutation	SNP	T	TCGA-DX-AB2P-01A-11D-A387-09	102187282	145890060	35025200	12	8854											
HSP90AB1	3326	genome.wustl.edu	37	chr6	44221262	44221262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcagcagaggaacccaAtgctgcagttcctgatgaga	13	9	0	3	rs201760495	byFrequency	TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr6:44221262A>G	ENST00000371554.1	+	12	2316	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N701S|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N701S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	701					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGAACCCAATGCTGCAGTT	0.453											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000096384						75	76	76					6																	44221262		2203	4300	6503	HSP90AB1	SO:0001583	missense	0			-	HGNC	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2102A>G	6.37:g.44221262A>G	ENSP00000360609:p.Asn701Ser	Somatic	0	42	0	922	0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP							pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.N701S	ENST00000371554.1	37	c.2102	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	3.876	-0.026861	0.07589	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.08807	3.05;3.05;3.05	3.91	3.91	0.45181	.	0.272984	0.27901	N	0.017393	T	0.00580	0.0019	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.47749	-0.9093	10	0.02654	T	1	-8.621	7.7636	0.28968	0.0881:0.2939:0.618:0.0	.	663;691;701	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	S	701	ENSP00000360709:N701S;ENSP00000325875:N701S;ENSP00000360609:N701S	ENSP00000325875:N701S	N	+	2	0	HSP90AB1	44329240	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.913000	0.48790	1.010000	0.39314	-0.166000	0.13349	AAT	-	pfam_Hsp90_fam,pirsf_Hsp90_fam		0.453	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	protein_coding	OTTHUMT00000040730.1	A	NM_007355	rs201760495		44221262	1	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	SNP	0.999	G	G	44221262	A	G	44221262	3	3	119	1	0	0	0	0	1	0	0	0	7404	101	4	5	2144	5	HSP90AB1	6	44221262	Missense_Mutation	SNP	A	TCGA-DX-AB2P-01A-11D-A387-09		44221262	126893805	13	8855											
BCLAF1	9774	genome.wustl.edu	37	chr6	136599135	136599135	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggacttcttcgtgaagggAtgtgatgaattggactattc	12	6	1	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr6:136599135A>T	ENST00000531224.1	-	4	1136	c.884T>A	c.(883-885)aTc>aAc	p.I295N	BCLAF1_ENST00000353331.4_Missense_Mutation_p.I293N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I295N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.I295N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.I293N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.I293N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	295					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCGTGAAGGGATGTGATGAAT	0.468																																					Colon(142;1534 1789 5427 7063 28491)												0								ENSG00000029363						95	83	87					6																	136599135		2203	4300	6503	BCLAF1	SO:0001583	missense	0			-	HGNC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.884T>A	6.37:g.136599135A>T	ENSP00000435210:p.Ile295Asn	Somatic	0	227	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	153	16.76	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP							NULL	p.I295N	ENST00000531224.1	37	c.884	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873082	0.51695	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14640	2.94;2.94;2.94;2.49;2.94;2.94;2.75	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000002	T	0.09202	0.0227	N	0.08118	0	0.80722	D	1	D;D;D;D	0.64830	0.987;0.994;0.987;0.987	P;P;P;P	0.56960	0.696;0.81;0.696;0.696	T	0.34925	-0.9809	10	0.49607	T	0.09	-1.3166	16.182	0.81915	1.0:0.0:0.0:0.0	.	293;293;295;295	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	N	295;293;295;295;293;293;295	ENSP00000435210:I295N;ENSP00000229446:I293N;ENSP00000435441:I295N;ENSP00000436501:I295N;ENSP00000434826:I293N;ENSP00000376159:I293N;ENSP00000431734:I295N	ENSP00000229446:I293N	I	-	2	0	BCLAF1	136640828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.067000	0.64357	2.222000	0.72286	0.528000	0.53228	ATC	-	NULL		0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	protein_coding	OTTHUMT00000042375.2	A	NM_014739	-		136599135	-1	no_errors	ENST00000531224	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136599135	A	T	136599135	3	4	119	1	0	0	0	0	1	0	0	0	1383	333	12	5	1918	5	BCLAF1	6	136599135	Missense_Mutation	SNP	A	TCGA-DX-AB2P-01A-11D-A387-09	92377873	136599135	34515932	14	8856											
DNAH11	8701	genome.wustl.edu	37	chr7	21698459	21698459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagactatgcaagaaaCggtgcgtcattctataacag	9	8	2	3	rs202034810		TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr7:21698459C>T	ENST00000409508.3	+	30	5169	c.5138C>T	c.(5137-5139)aCg>aTg	p.T1713M	DNAH11_ENST00000328843.6_Missense_Mutation_p.T1718M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1718	Stem. {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						ATGCAAGAAACGGTGCGTCAT	0.423									Kartagener syndrome				C|||	1	0.000199681	8e-04	0	5008	,	,		18250	0		0	False		,,,				2504	0																0								ENSG00000105877	C	MET/THR	3,3769		0,3,1883	48	45	46		5153	5.9	0.2	7		46	0,8204		0,0,4102	yes	missense	DNAH11	NM_003777.3	81	0,3,5985	TT,TC,CC		0.0,0.0795,0.0251	probably-damaging	1718/4524	21698459	3,11973	1886	4102	5988	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.5138C>T	7.37:g.21698459C>T	ENSP00000475939:p.Thr1713Met	Somatic	0	70	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	20	66.10	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1718M	ENST00000409508.3	37	c.5153		7	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474402	0.43942	7.95E-4	0.0	ENSG00000105877	ENST00000328843	T	0.57752	0.38	5.92	5.92	0.95590	Dynein heavy chain, domain-2 (1);	0.161766	0.52532	D	0.000068	T	0.71091	0.3299	.	.	.	0.34212	D	0.67438	D	0.64830	0.994	P	0.58331	0.837	T	0.78797	-0.2063	9	0.87932	D	0	.	19.983	0.97336	0.0:1.0:0.0:0.0	.	1718	Q96DT5	DYH11_HUMAN	M	1718	ENSP00000330671:T1718M	ENSP00000330671:T1718M	T	+	2	0	DNAH11	21664984	0.766000	0.28496	0.214000	0.23707	0.237000	0.25408	3.556000	0.53734	2.826000	0.97356	0.603000	0.83216	ACG	-	pfam_Dynein_heavy_dom-2		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	C	NM_003777	rs202034810		21698459	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	0.655	T	T	21698459	C	T	21698459	3	4	119	1	0	0	0	0	1	0	0	0	4601	536	19	1	5271	1	DNAH11	7	21698459	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09		21698459	137440204	15	8857											
NPTX2	4885	genome.wustl.edu	37	chr7	98256582	98256582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattccaggacggagagaagCtgggcactggggagaacctg	16	9	0	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr7:98256582C>A	ENST00000265634.3	+	4	1159	c.994C>A	c.(994-996)Ctg>Atg	p.L332M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	332	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CGGAGAGAAGCTGGGCACTGG	0.647																																																	0								ENSG00000106236						96	78	84					7																	98256582		2203	4300	6503	NPTX2	SO:0001583	missense	0			-	HGNC		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.994C>A	7.37:g.98256582C>A	ENSP00000265634:p.Leu332Met	Somatic	0	43	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.L332M	ENST00000265634.3	37	c.994	CCDS5657.1	7	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690980	0.88735	.	.	ENSG00000106236	ENST00000265634	T	0.59772	0.24	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.060211	0.64402	D	0.000001	T	0.67088	0.2856	L	0.37507	1.11	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.63278	-0.6673	10	0.33940	T	0.23	-15.4276	18.4968	0.90867	0.0:1.0:0.0:0.0	.	332	P47972	NPTX2_HUMAN	M	332	ENSP00000265634:L332M	ENSP00000265634:L332M	L	+	1	2	NPTX2	98094518	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	4.874000	0.63064	2.682000	0.91365	0.655000	0.94253	CTG	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.647	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	protein_coding	OTTHUMT00000334982.1	C	NM_002523	-		98256582	1	no_errors	ENST00000265634	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98256582	C	A	98256582	3	1	119	1	0	0	0	0	1	0	0	0	10605	796	28	3	1008	3	NPTX2	7	98256582	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	76558123	98256582	60882081	16	8858											
SLC26A4	5172	genome.wustl.edu	37	chr7	107315522	107315522	+	Frame_Shift_Del	DEL	A	A	-													ttgtcctcaatgtttcaaccAaaaactacaatggagttctc							TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr7:107315522delA	ENST00000265715.3	+	6	957	c.733delA	c.(733-735)aaafs	p.K245fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	245					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGTTTCAACCAAAAACTACAA	0.433									Pendred syndrome																																								0								ENSG00000091137						185	180	182					7																	107315522		2203	4300	6503	SLC26A4	SO:0001589	frameshift_variant	0	Familial Cancer Database	Goiter-Deafness syndrome		HGNC	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.733delA	7.37:g.107315522delA	ENSP00000265715:p.Lys245fs	Somatic	0	29	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B7Z266|O43170	Frame_Shift_Del	DEL							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.N246fs	ENST00000265715.3	37	c.733	CCDS5746.1	7																																																																																			-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	protein_coding	OTTHUMT00000337148.1	A	NM_000441			107315522	1	no_errors	ENST00000265715	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	107315522	A	-	107315522	7	5	119	1	0	1	0	1	0	0	0	0	14527	131	5	0	751	0	SLC26A4	7	107315522	Frame_Shift_Del	DEL	A	TCGA-DX-AB2P-01A-11D-A387-09	9058940	107315522	51823141	17	8859											
FSCN3	29999	genome.wustl.edu	37	chr7	127238588	127238589	+	Frame_Shift_Ins	INS	-	-	G													gatcatcctgcagtcctgcaINSgggggcgcttcctgggcatt					rs139747555		TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr7:127238588_127238589insG	ENST00000265825.5	+	4	1279_1280	c.1060_1061insG	c.(1060-1062)aggfs	p.R354fs	FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.R220fs	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGTCCTGCAGGGGGCGCTTC	0.594																																																	0								ENSG00000106328																																			FSCN3	SO:0001589	frameshift_variant	0				HGNC		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1065dupG	7.37:g.127238593_127238593dupG	ENSP00000265825:p.Arg354fs	Somatic	0	25	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Ins	INS							pfam_Fascin-domain,superfamily_Actin_cross-linking	p.R356fs	ENST00000265825.5	37	c.1060_1061	CCDS34746.1	7																																																																																			-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.594	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	protein_coding	OTTHUMT00000059256.2	-	NM_020369			127238589	1	no_errors	ENST00000265825	ensembl	human	known	74_37	frame_shift_ins	INS	0.039:0.000	G	G	127238589	-	G	127238588	7	5	119	1	0	1	1	0	0	0	0	0	6071	179	7	0	1074	0	FSCN3	7	127238588	Frame_Shift_Ins	INS	-	TCGA-DX-AB2P-01A-11D-A387-09	19923066	127238588	31900075	18	8860											
KIF13B	23303	genome.wustl.edu	37	chr8	29006108	29006108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccattgctgcccaggGccttcatggtgacctccatc	9	16	2	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr8:29006108G>T	ENST00000524189.1	-	16	1837	c.1799C>A	c.(1798-1800)gCc>gAc	p.A600D	KIF13B_ENST00000521515.1_Missense_Mutation_p.A600D	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	600					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCTGCCCAGGGCCTTCATGGT	0.542																																																	0								ENSG00000197892						70	73	72					8																	29006108		2003	4174	6177	KIF13B	SO:0001583	missense	0			-	HGNC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1799C>A	8.37:g.29006108G>T	ENSP00000427900:p.Ala600Asp	Somatic	0	50	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A600D	ENST00000524189.1	37	c.1799	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978157	0.53720	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.72282	-0.64;-0.64	5.11	5.11	0.69529	.	0.050840	0.85682	D	0.000000	T	0.80439	0.4623	L	0.49350	1.555	0.80722	D	1	D;D;B	0.76494	0.999;0.999;0.081	D;D;B	0.83275	0.996;0.953;0.034	T	0.74893	-0.3509	10	0.23891	T	0.37	.	19.098	0.93260	0.0:0.0:1.0:0.0	.	586;600;600	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	D	600	ENSP00000427900:A600D;ENSP00000429201:A600D	ENSP00000429201:A600D	A	-	2	0	KIF13B	29062027	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	3.329000	0.52060	2.826000	0.97356	0.561000	0.74099	GCC	-	NULL		0.542	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	protein_coding	OTTHUMT00000376878.1	G		-		29006108	-1	no_errors	ENST00000524189	ensembl	human	known	74_37	missense	SNP	0.990	T	T	29006108	G	T	29006108	3	4	119	1	0	0	0	0	1	0	0	0	8277	1203	42	3	3781	3	KIF13B	8	29006108	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		29006108	117357914	19	8861											
TGFBR1	7046	genome.wustl.edu	37	chr9	101894898	101894898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtctatatctgccacaacCgcactgtcattcaccatcga	6	14	4	0			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr9:101894898C>G	ENST00000374994.4	+	3	568	c.451C>G	c.(451-453)Cgc>Ggc	p.R151G	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R155G|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R82G|TGFBR1_ENST00000374990.2_Intron	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	151					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTGCCACAACCGCACTGTCAT	0.463																																																	0								ENSG00000106799						174	145	154					9																	101894898		2203	4300	6503	TGFBR1	SO:0001583	missense	0			-	HGNC		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.451C>G	9.37:g.101894898C>G	ENSP00000364133:p.Arg151Gly	Somatic	0	49	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R151G	ENST00000374994.4	37	c.451	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960322	0.74016	.	.	ENSG00000106799	ENST00000547314;ENST00000552573;ENST00000374994;ENST00000540092;ENST00000552516;ENST00000548365;ENST00000550253;ENST00000546584	T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05	6.02	6.02	0.97574	.	0.095446	0.85682	D	0.000000	T	0.78610	0.4310	M	0.73217	2.22	0.80722	D	1	D;P	0.67145	0.996;0.843	D;B	0.65573	0.936;0.415	T	0.78043	-0.2358	10	0.56958	D	0.05	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	86;151	F8VRH6;P36897	.;TGFR1_HUMAN	G	82;86;151;151;155;86;82;148	ENSP00000449934:R82G;ENSP00000447182:R86G;ENSP00000364133:R151G;ENSP00000447297:R155G;ENSP00000448518:R86G;ENSP00000450052:R82G;ENSP00000447707:R148G	ENSP00000364133:R151G	R	+	1	0	TGFBR1	100934719	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.003000	0.70701	2.865000	0.98341	0.655000	0.94253	CGC	-	superfamily_Quinolinate_PRibosylTrfase_C		0.463	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	protein_coding	OTTHUMT00000053390.3	C		-		101894898	1	no_errors	ENST00000374994	ensembl	human	known	74_37	missense	SNP	1.000	G	G	101894898	C	G	101894898	3	3	119	1	0	0	0	0	1	0	0	0	15828	652	23	4	461	4	TGFBR1	9	101894898	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09		101894898	39318533	20	8862											
PGBD3	267004	genome.wustl.edu	37	chr10	50724120	50724120	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagttattgaatacaaaatgGtattgtccagggtgtgcctc	10	6	0	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr10:50724120G>T	ENST00000374127.3	-	2	1242	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*	PGBD3_ENST00000603152.1_Nonsense_Mutation_p.Y815*|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.Y815*|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.Y347*|ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.Y815*	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	347										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATACAAAATGGTATTGTCCAG	0.418																																																	0								ENSG00000243251						75	71	72					10																	50724120		2203	4299	6502	PGBD3	SO:0001587	stop_gained	0			-	HGNC	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1041C>A	10.37:g.50724120G>T	ENSP00000363242:p.Tyr347*	Somatic	0	43	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B3KQC4|Q5W0M0|Q6PIH0	Nonsense_Mutation	SNP							NULL	p.Y815*	ENST00000374127.3	37	c.2445	CCDS7230.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.479166	0.97598	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	.	.	.	0.699	-0.62	0.11567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.3241	.	.	.	.	.	.	.	X	347;347;815;815	.	ENSP00000387966:Y815X	Y	-	3	2	PGBD3;RP11-123B3.6	50394126	0.119000	0.22226	0.008000	0.14137	0.963000	0.63663	0.659000	0.24994	-0.241000	0.09681	0.491000	0.48974	TAC	-	NULL		0.418	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	protein_coding	OTTHUMT00000047988.1	G		-		50724120	-1	no_errors	ENST00000603152	ensembl	human	known	74_37	nonsense	SNP	0.002	T	T	50724120	G	T	50724120	4	4	119	1	0	0	0	0	0	1	0	0	11784	1256	44	3	744	3	PGBD3	10	50724120	Nonsense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		50724120	84810627	21	8863											
FRA10AC1	118924	genome.wustl.edu	37	chr10	95443848	95443848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttaatggaacattcttgGcataaccctaaaaagaaaag	6	6	1	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr10:95443848G>A	ENST00000359204.4	-	10	830	c.633C>T	c.(631-633)tgC>tgT	p.C211C	FRA10AC1_ENST00000536233.1_Silent_p.C211C|FRA10AC1_ENST00000394100.2_Silent_p.C211C|FRA10AC1_ENST00000371430.2_Silent_p.C211C	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	211	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AACATTCTTGGCATAACCCTA	0.308																																																	0								ENSG00000148690						132	150	144					10																	95443848		2203	4300	6503	FRA10AC1	SO:0001819	synonymous_variant	0			-	HGNC	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.633C>T	10.37:g.95443848G>A		Somatic	0	48	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Silent	SNP							pfam_Folate-sensitive_fs_Fra10Ac1	p.C211	ENST00000359204.4	37	c.633	CCDS7430.1	10																																																																																			-	pfam_Folate-sensitive_fs_Fra10Ac1		0.308	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	protein_coding	OTTHUMT00000049439.1	G	NM_145246	-		95443848	-1	no_errors	ENST00000359204	ensembl	human	known	74_37	silent	SNP	1.000	A	A	95443848	G	A	95443848	2	1	119	1	0	0	0	0	0	0	0	1	6043	1195	42	2		2	FRA10AC1	10	95443848	Silent	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	44719728	95443848	40090899	22	8864											
TLL2	7093	genome.wustl.edu	37	chr10	98240208	98240208	+	Frame_Shift_Del	DEL	A	A	-													atctaaggcaatgtctccccAaaagacagctgggaaggaaa							TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr10:98240208delA	ENST00000357947.3	-	2	409	c.184delT	c.(184-186)tggfs	p.W62fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	62					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATGTCTCCCCAAAAGACAGCT	0.473																																																	0								ENSG00000095587						179	156	163					10																	98240208		2203	4300	6503	TLL2	SO:0001589	frameshift_variant	0				HGNC	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.184delT	10.37:g.98240208delA	ENSP00000350630:p.Trp62fs	Somatic	0	84	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	52	31.58	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Del	DEL							pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.W62fs	ENST00000357947.3	37	c.184	CCDS7449.1	10																																																																																			-	pirsf_BMP_1/tolloid-like		0.473	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	protein_coding	OTTHUMT00000049608.1	A				98240208	-1	no_errors	ENST00000357947	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	98240208	A	-	98240208	7	5	119	1	0	1	0	1	0	0	0	0	15953	130	5	0	2943	0	TLL2	10	98240208	Frame_Shift_Del	DEL	A	TCGA-DX-AB2P-01A-11D-A387-09	2796360	98240208	37294539	23	8865											
OR51D1	390038	genome.wustl.edu	37	chr11	4661964	4661964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagagatctgttcaagggTcctctgtatgttctcacaag	9	9	4	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr11:4661964T>C	ENST00000357605.2	+	1	1020	c.944T>C	c.(943-945)gTc>gCc	p.V315A	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTCAAGGGTCCTCTGTATG	0.463																																																	0								ENSG00000197428						73	72	72					11																	4661964		2201	4298	6499	OR51D1	SO:0001583	missense	0			-	HGNC	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.944T>C	11.37:g.4661964T>C	ENSP00000350222:p.Val315Ala	Somatic	0	49	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	9.84	B9EIK4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V315A	ENST00000357605.2	37	c.944	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	T	5.831	0.337477	0.11013	.	.	ENSG00000197428	ENST00000357605	T	0.39056	1.1	4.7	3.55	0.40652	.	0.176010	0.27302	N	0.019987	T	0.40522	0.1120	M	0.66439	2.03	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.41502	-0.9505	10	0.66056	D	0.02	.	9.6765	0.40043	0.0:0.0:0.1747:0.8253	.	315	Q8NGF3	O51D1_HUMAN	A	315	ENSP00000350222:V315A	ENSP00000350222:V315A	V	+	2	0	OR51D1	4618540	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.118000	0.15605	0.905000	0.36596	0.460000	0.39030	GTC	-	NULL		0.463	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	protein_coding	OTTHUMT00000385956.1	T	NM_001004751	-		4661964	1	no_errors	ENST00000357605	ensembl	human	known	74_37	missense	SNP	0.008	C	C	4661964	T	C	4661964	3	2	119	1	0	0	0	0	1	0	0	0	11095	1667	58	5	946	5	OR51D1	11	4661964	Missense_Mutation	SNP	T	TCGA-DX-AB2P-01A-11D-A387-09		4661964	130344552	24	8866											
OR6A2	8590	genome.wustl.edu	37	chr11	6816255	6816255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggaatgtgcatcacagCaccagtaatggccacatagg	11	10	1	0			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr11:6816255C>A	ENST00000332601.3	-	1	873	c.685G>T	c.(685-687)Gct>Tct	p.A229S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	229					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)			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)		TGCATCACAGCACCAGTAATG	0.483																																																	0								ENSG00000184933						99	103	102					11																	6816255		2201	4296	6497	OR6A2	SO:0001583	missense	0			-	HGNC	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.685G>T	11.37:g.6816255C>A	ENSP00000330384:p.Ala229Ser	Somatic	0	35	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A229S	ENST00000332601.3	37	c.685	CCDS7772.1	11	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609940	0.66558	.	.	ENSG00000184933	ENST00000332601	T	0.00224	8.51	5.07	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.111264	0.39759	N	0.001272	T	0.00210	0.0006	L	0.31526	0.94	0.27349	N	0.956302	P	0.46020	0.871	P	0.51550	0.673	T	0.51276	-0.8726	10	0.41790	T	0.15	.	7.2672	0.26235	0.0:0.7319:0.0:0.2681	.	229	O95222	OR6A2_HUMAN	S	229	ENSP00000330384:A229S	ENSP00000330384:A229S	A	-	1	0	OR6A2	6772831	0.000000	0.05858	0.949000	0.38748	0.964000	0.63967	-0.886000	0.04157	0.842000	0.35045	0.655000	0.94253	GCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	protein_coding	OTTHUMT00000385981.1	C	NM_003696	-		6816255	-1	no_errors	ENST00000332601	ensembl	human	known	74_37	missense	SNP	0.968	A	A	6816255	C	A	6816255	3	1	119	1	0	0	0	0	1	0	0	0	11188	710	25	3	302	3	OR6A2	11	6816255	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	2154291	6816255	128190261	25	8867											
KLC2	64837	genome.wustl.edu	37	chr11	66031830	66031830	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccaggcttcctgctacctGaagcagggcaagtaccagga	11	12	0	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr11:66031830G>T	ENST00000417856.1	+	9	1374	c.1131G>T	c.(1129-1131)ctG>ctT	p.L377L	KLC2_ENST00000316924.5_Silent_p.L377L|RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Silent_p.L300L|KLC2_ENST00000394067.2_Silent_p.L377L|KLC2_ENST00000394066.2_Silent_p.L300L|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394065.2_Silent_p.L238L	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	377					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CCTGCTACCTGAAGCAGGGCA	0.567																																																	0								ENSG00000174996						82	67	72					11																	66031830		2200	4295	6495	KLC2	SO:0001819	synonymous_variant	0			-	HGNC	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1131G>T	11.37:g.66031830G>T		Somatic	0	49	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP							pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L377	ENST00000417856.1	37	c.1131	CCDS8130.1	11																																																																																			-	pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR-contain_dom		0.567	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	protein_coding	OTTHUMT00000258200.1	G	NM_022822	-		66031830	1	no_errors	ENST00000316924	ensembl	human	known	74_37	silent	SNP	1.000	T	T	66031830	G	T	66031830	2	4	119	1	0	0	0	0	0	0	0	1	8336	1277	45	3		3	KLC2	11	66031830	Silent	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	59215575	66031830	68974686	26	8868											
PITPNM1	9600	genome.wustl.edu	37	chr11	67263036	67263036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccagcatctccagctcCtccagaaagaggctggagtg	12	13	1	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr11:67263036C>T	ENST00000534749.1	-	15	2543	c.2355G>A	c.(2353-2355)gaG>gaA	p.E785E	PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Silent_p.E784E|PITPNM1_ENST00000356404.3_Silent_p.E785E			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	785	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTCCAGCTCCTCCAGAAAGA	0.662																																					GBM(28;144 709 4607 5525)												0								ENSG00000110697						23	23	23					11																	67263036		2198	4289	6487	PITPNM1	SO:0001819	synonymous_variant	0			-	HGNC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2355G>A	11.37:g.67263036C>T		Somatic	0	59	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	45	53.61	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP							pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.E785	ENST00000534749.1	37	c.2355	CCDS31620.1	11																																																																																			-	pfam_DDHD,pfscan_DDHD		0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	protein_coding	OTTHUMT00000395520.1	C	NM_004910	-		67263036	-1	no_errors	ENST00000356404	ensembl	human	known	74_37	silent	SNP	0.996	T	T	67263036	C	T	67263036	2	4	119	1	0	0	0	0	0	0	0	1	11952	680	24	2		2	PITPNM1	11	67263036	Silent	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	1231206	67263036	67743480	27	8869											
MLL	4297	genome.wustl.edu	37	chr11	118352703	118352709	+	Frame_Shift_Del	DEL	TGGTCAT	TGGTCAT	-													gcaggtctcccagccagcacTggtcatcccgcctcagccac							TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	TGGTCAT	TGGTCAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr11:118352703_118352709delTGGTCAT	ENST00000389506.5	+	7	3908_3914	c.3908_3914delTGGTCAT	c.(3907-3915)ctggtcatcfs	p.LVI1303fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.LVI1303fs|KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.LVI1303fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1303					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGCCAGCACTGGTCATCCCGCCTCAG	0.556																																																	0								ENSG00000118058																																			KMT2A	SO:0001589	frameshift_variant	0				HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3908_3914delTGGTCAT	11.37:g.118352703_118352709delTGGTCAT	ENSP00000374157:p.Leu1303fs	Somatic					0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1				E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.L1303fs	ENST00000389506.5	37	c.3908_3914	CCDS31686.1	11																																																																																			-	pirsf_MeTrfase_trithorax		0.556	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	TGGTCAT	NM_005933			118352709	1	no_errors	ENST00000389506	ensembl	human	known	74_37	frame_shift_del	DEL	0.014:0.002:0.006:0.000:0.001:0.000:0.001	-	-	118352709	TGGTCAT	-	118352703	7	5	119	1	0	1	0	1	0	0	0	0	9622	1580	55	0	3934	0	MLL	11	118352703	Frame_Shift_Del	DEL	TGGTCAT	TCGA-DX-AB2P-01A-11D-A387-09	51089667	118352703	16653813	28	8870											
OR6C3	254786	genome.wustl.edu	37	chr12	55725940	55725940	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctaagtgggtttctgacCattttcccaccccttatgct	8	12	1	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr12:55725940C>A	ENST00000379667.1	+	1	456	c.456C>A	c.(454-456)acC>acA	p.T152T		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	152					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GGTTTCTGACCATTTTCCCAC	0.463																																																	0								ENSG00000205329						251	206	221					12																	55725940		2203	4300	6503	OR6C3	SO:0001819	synonymous_variant	0			-	HGNC	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.456C>A	12.37:g.55725940C>A		Somatic	0	53	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T152	ENST00000379667.1	37	c.456	CCDS31819.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C3	protein_coding	OTTHUMT00000406309.1	C		-		55725940	1	no_errors	ENST00000379667	ensembl	human	known	74_37	silent	SNP	0.000	A	A	55725940	C	A	55725940	2	1	119	1	0	0	0	0	0	0	0	1	11194	581	21	3		3	OR6C3	12	55725940	Silent	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09		55725940	78125955	29	8871											
FAM109A	144717	genome.wustl.edu	37	chr12	111800949	111800949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcatcctgactctcagCggccagcacgtaggtgcgcg	13	14	1	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr12:111800949C>T	ENST00000547838.2	-	2	380	c.283G>A	c.(283-285)Gct>Act	p.A95T	FAM109A_ENST00000361483.3_Missense_Mutation_p.A108T|FAM109A_ENST00000450786.2_Silent_p.P75P|FAM109A_ENST00000392658.5_Missense_Mutation_p.A95T|FAM109A_ENST00000548163.1_Missense_Mutation_p.A95T			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	95	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)	p.A108T(1)|p.A95T(1)		breast(1)|endometrium(1)|lung(1)|ovary(1)	4						TGACTCTCAGCGGCCAGCACG	0.692																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000198324						17	19	18					12																	111800949		2199	4292	6491	FAM109A	SO:0001583	missense	0			-	HGNC	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.283G>A	12.37:g.111800949C>T	ENSP00000447353:p.Ala95Thr	Somatic	0	27	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A108T	ENST00000547838.2	37	c.322	CCDS9152.1	12	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680211	0.88542	.	.	ENSG00000198324	ENST00000547838;ENST00000361483;ENST00000392658;ENST00000548163;ENST00000547710	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.38	4.38	0.52667	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.73385	0.3580	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78886	-0.2027	9	0.48119	T	0.1	.	16.949	0.86239	0.0:1.0:0.0:0.0	.	95;95	Q8N4B1;B4DRN3	SESQ1_HUMAN;.	T	95;108;95;95;95	ENSP00000447353:A95T;ENSP00000354461:A108T;ENSP00000376426:A95T;ENSP00000449994:A95T;ENSP00000447349:A95T	ENSP00000354461:A108T	A	-	1	0	FAM109A	110285332	1.000000	0.71417	0.194000	0.23346	0.761000	0.43186	7.639000	0.83342	1.982000	0.57802	0.561000	0.74099	GCT	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.692	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM109A	protein_coding	OTTHUMT00000404768.2	C	NM_144671	-		111800949	-1	no_errors	ENST00000361483	ensembl	human	known	74_37	missense	SNP	0.999	T	T	111800949	C	T	111800949	3	4	119	1	0	0	0	0	1	0	0	0	5396	768	27	1	470	1	FAM109A	12	111800949	Missense_Mutation	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	56075009	111800949	22050946	30	8872											
UGGT2	55757	genome.wustl.edu	37	chr13	96513064	96513064	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taaaaaacgttcatataaatGaccagaagcaactgaaaaaa	5	6	1	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr13:96513064G>C	ENST00000376747.3	-	32	3788	c.3718C>G	c.(3718-3720)Cat>Gat	p.H1240D		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1240	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCATATAAATGACCAGAAGCA	0.239																																																	0								ENSG00000102595						52	53	53					13																	96513064		2194	4255	6449	UGGT2	SO:0001583	missense	0			-	HGNC	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3718C>G	13.37:g.96513064G>C	ENSP00000365938:p.His1240Asp	Somatic	0	300	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	455	12.31	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP							pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.H1240D	ENST00000376747.3	37	c.3718	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114157	0.77210	.	.	ENSG00000102595	ENST00000376747	T	0.19394	2.15	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72697	-0.4215	10	0.87932	D	0	-14.9908	17.9944	0.89178	0.0:0.0:1.0:0.0	.	1240	Q9NYU1	UGGG2_HUMAN	D	1240	ENSP00000365938:H1240D	ENSP00000365938:H1240D	H	-	1	0	UGGT2	95311065	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.699000	0.91316	2.548000	0.85928	0.655000	0.94253	CAT	-	NULL		0.239	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	protein_coding	OTTHUMT00000045507.1	G	NM_020121	-		96513064	-1	no_errors	ENST00000376747	ensembl	human	known	74_37	missense	SNP	1.000	C	C	96513064	G	C	96513064	3	2	119	1	0	0	0	0	1	0	0	0	16949	1290	45	4	864	4	UGGT2	13	96513064	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		96513064	18656814	31	8873											
PRIMA1	145270	genome.wustl.edu	37	chr14	94203701	94203701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctttcctcagtggggcaaGaggtagagttgggagctgaa	16	6	1	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr14:94203701G>T	ENST00000393140.1	-	4	347	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	PRIMA1_ENST00000393143.1_Missense_Mutation_p.S82Y|PRIMA1_ENST00000316227.3_Missense_Mutation_p.S82Y	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	82					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		AGTGGGGCAAGAGGTAGAGTT	0.552																																																	0								ENSG00000175785						90	82	85					14																	94203701		2203	4300	6503	PRIMA1	SO:0001583	missense	0			-	HGNC		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.245C>A	14.37:g.94203701G>T	ENSP00000376848:p.Ser82Tyr	Somatic	0	54	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q86XR6	Missense_Mutation	SNP							NULL	p.S82Y	ENST00000393140.1	37	c.245	CCDS9912.1	14	.	.	.	.	.	.	.	.	.	.	G	15.54	2.865131	0.51482	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.95	4.04	0.47022	.	0.463730	0.18456	N	0.140677	T	0.32285	0.0824	L	0.29908	0.895	0.35656	D	0.812141	B	0.34241	0.444	B	0.34652	0.187	T	0.39522	-0.9610	9	0.41790	T	0.15	-14.2544	5.7405	0.18092	0.2187:0.0:0.7813:0.0	.	82	Q86XR5	PRIMA_HUMAN	Y	82	.	ENSP00000320948:S82Y	S	-	2	0	PRIMA1	93273454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.739000	0.47409	2.457000	0.83068	0.555000	0.69702	TCT	-	NULL		0.552	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	protein_coding	OTTHUMT00000280658.1	G	NM_178013	-		94203701	-1	no_errors	ENST00000393140	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94203701	G	T	94203701	3	4	119	1	0	0	0	0	1	0	0	0	12497	942	33	3	224	3	PRIMA1	14	94203701	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		94203701	13145839	32	8874											
WARS	7453	genome.wustl.edu	37	chr14	100828076	100828076	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagtctatgccttttgcActgcttgtctgtactgtcca	8	11	2	0			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr14:100828076A>C	ENST00000355338.2	-	3	900	c.282T>G	c.(280-282)agT>agG	p.S94R	WARS_ENST00000358655.4_Missense_Mutation_p.S53R|WARS_ENST00000344102.5_Missense_Mutation_p.S53R|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000392882.2_Missense_Mutation_p.S94R|WARS_ENST00000556645.1_Missense_Mutation_p.S53R|WARS_ENST00000557135.1_Missense_Mutation_p.S94R	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	94					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGCCTTTTGCACTGCTTGTCT	0.478																																																	0								ENSG00000140105						326	292	303					14																	100828076		2203	4300	6503	WARS	SO:0001583	missense	0			-	HGNC	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.282T>G	14.37:g.100828076A>C	ENSP00000347495:p.Ser94Arg	Somatic	0	72	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.S94R	ENST00000355338.2	37	c.282	CCDS9960.1	14	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650593	0.29336	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;1.84;1.78;1.82;1.8	5.91	-3.3	0.05003	.	0.102621	0.85682	D	0.000000	T	0.63010	0.2475	L	0.61387	1.9	0.47441	D	0.999426	B	0.13145	0.007	B	0.04013	0.001	T	0.51718	-0.8670	10	0.31617	T	0.26	-0.3145	15.3044	0.73982	0.4038:0.0:0.5962:0.0	.	94	P23381	SYWC_HUMAN	R	94;53;94;53;94;53;53;53;94;53;53;53;94;94;128;94;94;94;94;94	ENSP00000376620:S94R;ENSP00000351481:S53R;ENSP00000347495:S94R;ENSP00000339485:S53R;ENSP00000451460:S94R;ENSP00000451887:S53R;ENSP00000451490:S53R;ENSP00000451251:S53R;ENSP00000450500:S94R;ENSP00000451599:S53R;ENSP00000452519:S53R;ENSP00000451544:S53R;ENSP00000450427:S94R;ENSP00000451349:S94R;ENSP00000450934:S128R;ENSP00000451469:S94R;ENSP00000451402:S94R;ENSP00000452550:S94R;ENSP00000451906:S94R;ENSP00000451716:S94R	ENSP00000339485:S53R	S	-	3	2	WARS	99897829	0.486000	0.25980	0.918000	0.36340	0.345000	0.29048	-0.137000	0.10389	-0.626000	0.05596	-0.290000	0.09829	AGT	-	NULL		0.478	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WARS	protein_coding	OTTHUMT00000414236.1	A	NM_004184	-		100828076	-1	no_errors	ENST00000355338	ensembl	human	known	74_37	missense	SNP	0.939	C	C	100828076	A	C	100828076	3	2	119	1	0	0	0	0	1	0	0	0	17256	156	6	5	1169	5	WARS	14	100828076	Missense_Mutation	SNP	A	TCGA-DX-AB2P-01A-11D-A387-09	6624375	100828076	6521464	33	8875											
DMXL2	23312	genome.wustl.edu	37	chr15	51791871	51791871	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcgcaccgactcccactgTaagaatgtgggagccatctt	9	12	1	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr15:51791871T>A	ENST00000251076.5	-	18	3837	c.3550A>T	c.(3550-3552)Aca>Tca	p.T1184S	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.T1184S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1184						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACTCCCACTGTAAGAATGTGG	0.418																																																	0								ENSG00000104093						67	63	64					15																	51791871		2195	4292	6487	DMXL2	SO:0001583	missense	0			-	HGNC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3550A>T	15.37:g.51791871T>A	ENSP00000251076:p.Thr1184Ser	Somatic	0	28	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1184S	ENST00000251076.5	37	c.3550	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	19.55	3.847967	0.71603	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.35048	1.33;1.33	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.978	T	0.68428	-0.5411	10	0.72032	D	0.01	.	15.1326	0.72536	0.0:0.0:0.0:1.0	.	1184;1184	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	S	1184	ENSP00000251076:T1184S;ENSP00000441858:T1184S	ENSP00000251076:T1184S	T	-	1	0	DMXL2	49579163	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.671000	0.83941	1.973000	0.57446	0.482000	0.46254	ACA	-	NULL		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	T	NM_015263	-		51791871	-1	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51791871	T	A	51791871	3	1	119	1	0	0	0	0	1	0	0	0	4597	1638	57	5	5667	5	DMXL2	15	51791871	Missense_Mutation	SNP	T	TCGA-DX-AB2P-01A-11D-A387-09		51791871	50739521	34	8876											
SH2D7	646892	genome.wustl.edu	37	chr15	78393658	78393658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatatctatgagttcatcGggacagaaggcctcctgcaa	10	10	2	3	rs202061655		TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr15:78393658G>A	ENST00000328828.5	+	5	1063	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	SH2D7_ENST00000409568.2_Missense_Mutation_p.G219R	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	355										endometrium(2)|kidney(2)|lung(3)	7						TGAGTTCATCGGGACAGAAGG	0.622																																																	0								ENSG00000183476						20	21	21					15																	78393658		1923	4123	6046	SH2D7	SO:0001583	missense	0			-	HGNC		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.1063G>A	15.37:g.78393658G>A	ENSP00000327846:p.Gly355Arg	Somatic	0	32	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64		Missense_Mutation	SNP							NULL	p.G219R	ENST00000328828.5	37	c.655	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	G	2.423	-0.332678	0.05314	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.29655	1.56;1.72	4.86	-2.43	0.06522	.	2.867590	0.01057	N	0.004566	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.14868	-1.0457	10	0.06757	T	0.87	-0.0103	2.6451	0.04982	0.1876:0.4385:0.2359:0.138	.	355	A6NKC9	SH2D7_HUMAN	R	219;355	ENSP00000386676:G219R;ENSP00000327846:G355R	ENSP00000327846:G355R	G	+	1	0	SH2D7	76180713	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.214000	0.17541	-0.073000	0.12842	-0.150000	0.13652	GGG	-	NULL		0.622	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	protein_coding	OTTHUMT00000334660.2	G	NM_001101404	rs202061655		78393658	1	no_errors	ENST00000409568	ensembl	human	putative	74_37	missense	SNP	0.000	A	A	78393658	G	A	78393658	3	1	119	1	0	0	0	0	1	0	0	0	14247	1116	39	1	1081	1	SH2D7	15	78393658	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	26601787	78393658	24137734	35	8877											
FHOD1	29109	genome.wustl.edu	37	chr16	67267601	67267601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgagactcaaagaggtGttccagtcgggccgtgtcca	14	11	1	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr16:67267601G>T	ENST00000258201.4	-	13	2252	c.2005C>A	c.(2005-2007)Cac>Aac	p.H669N		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	669	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCAAAGAGGTGTTCCAGTCGG	0.607																																																	0								ENSG00000135723						31	30	31					16																	67267601		2198	4300	6498	FHOD1	SO:0001583	missense	0			-	HGNC	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2005C>A	16.37:g.67267601G>T	ENSP00000258201:p.His669Asn	Somatic	0	50	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP							pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.H669N	ENST00000258201.4	37	c.2005	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031997	0.35893	.	.	ENSG00000135723	ENST00000258201	T	0.16457	2.34	5.17	5.17	0.71159	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.046760	0.85682	D	0.000000	T	0.33030	0.0849	L	0.61387	1.9	0.80722	D	1	P;B	0.47034	0.889;0.236	P;B	0.53861	0.736;0.345	T	0.01294	-1.1393	10	0.30854	T	0.27	.	17.663	0.88197	0.0:0.0:1.0:0.0	.	248;669	B4DVN5;Q9Y613	.;FHOD1_HUMAN	N	669	ENSP00000258201:H669N	ENSP00000258201:H669N	H	-	1	0	FHOD1	65825102	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.350000	0.73017	2.415000	0.81967	0.561000	0.74099	CAC	-	pfam_FH2_Formin,smart_FH2_Formin		0.607	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	protein_coding	OTTHUMT00000268844.2	G		-		67267601	-1	no_errors	ENST00000258201	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67267601	G	T	67267601	3	4	119	1	0	0	0	0	1	0	0	0	5884	1377	48	3	1529	3	FHOD1	16	67267601	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		67267601	23087152	36	8878											
ADAD2	161931	genome.wustl.edu	37	chr16	84230349	84230349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagccctacctcctggcCttgaagacctacgaggctgc	12	14	0	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr16:84230349C>T	ENST00000315906.5	+	9	1675	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A623A|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	541	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ACCTCCTGGCCTTGAAGACCT	0.692																																																	0								ENSG00000140955						52	52	52					16																	84230349		2200	4300	6500	ADAD2	SO:0001819	synonymous_variant	0			-	HGNC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1623C>T	16.37:g.84230349C>T		Somatic	0	23	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	8	72.41	B2RCL6|Q8NA94	Silent	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.A623	ENST00000315906.5	37	c.1869	CCDS45536.1	16																																																																																			-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.692	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	protein_coding	OTTHUMT00000433385.1	C	NM_139174	-		84230349	1	no_errors	ENST00000268624	ensembl	human	known	74_37	silent	SNP	0.996	T	T	84230349	C	T	84230349	2	4	119	1	0	0	0	0	0	0	0	1	232	668	24	2		2	ADAD2	16	84230349	Silent	SNP	C	TCGA-DX-AB2P-01A-11D-A387-09	16962748	84230349	6124404	37	8879											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47121383	47121383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcccaggcagtgggcGccatcatcggcaagaagggg	15	14	1	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr17:47121383G>T	ENST00000290341.3	+	11	1589	c.1255G>T	c.(1255-1257)Gcc>Tcc	p.A419S	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A280S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	419	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCAGTGGGCGCCATCATCGG	0.597																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0								ENSG00000159217						101	90	94					17																	47121383		2203	4300	6503	IGF2BP1	SO:0001583	missense	0			-	HGNC	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1255G>T	17.37:g.47121383G>T	ENSP00000290341:p.Ala419Ser	Somatic	0	38	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	C9JT33	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.A419S	ENST00000290341.3	37	c.1255	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.355216	0.95854	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.29142	1.58;1.58	6.17	5.19	0.71726	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.165440	0.53938	N	0.000051	T	0.47154	0.1430	L	0.41356	1.27	0.80722	D	1	B;P	0.52692	0.076;0.955	B;D	0.72625	0.147;0.978	T	0.38265	-0.9669	10	0.44086	T	0.13	-19.6597	15.662	0.77193	0.0:0.0:0.8616:0.1384	.	280;419	C9JT33;Q9NZI8	.;IF2B1_HUMAN	S	419;280	ENSP00000290341:A419S;ENSP00000389135:A280S	ENSP00000290341:A419S	A	+	1	0	IGF2BP1	44476382	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.835000	0.99442	1.582000	0.49881	0.655000	0.94253	GCC	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.597	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	G	NM_006546	-		47121383	1	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47121383	G	T	47121383	3	4	119	1	0	0	0	0	1	0	0	0	7575	1087	38	3	1297	3	IGF2BP1	17	47121383	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		47121383	34073827	38	8880											
SDK2	54549	genome.wustl.edu	37	chr17	71426651	71426651	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagcagagccagtaccTgatggttactcgggggtcgt	13	10	1	2			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr17:71426651T>C	ENST00000392650.3	-	12	1582	c.1582A>G	c.(1582-1584)Agg>Ggg	p.R528G	SDK2_ENST00000388726.3_Splice_Site_p.R528G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	528	Ig-like C2-type 6.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						AGCCAGTACCTGATGGTTACT	0.612																																																	0								ENSG00000069188						43	32	36					17																	71426651		2203	4299	6502	SDK2	SO:0001630	splice_region_variant	0			-	HGNC	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.1583+1A>G	17.37:g.71426651T>C		Somatic	0	27	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R528G	ENST00000392650.3	37	c.1582	CCDS45769.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.907|9.907	1.208453|1.208453	0.22205|0.22205	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000416616|ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	.|T;T	.|0.67345	.|-0.26;-0.26	3.89|3.89	3.89|3.89	0.44902|0.44902	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.109437	.|0.64402	.|D	.|0.000008	T|T	0.66336|0.66336	0.2779|0.2779	M|M	0.84326|0.84326	2.69|2.69	0.46396|0.46396	D|D	0.999029|0.999029	.|B;B	.|0.10296	.|0.002;0.003	.|B;B	.|0.15052	.|0.012;0.008	T|T	0.65463|0.65463	-0.6162|-0.6162	5|10	.|0.39692	.|T	.|0.17	.|.	9.6852|9.6852	0.40094|0.40094	0.0:0.0:0.1748:0.8252|0.0:0.0:0.1748:0.8252	.|.	.|528;528	.|Q58EX2-2;Q58EX2	.|.;SDK2_HUMAN	R|G	432|152;528;528;528	.|ENSP00000376421:R528G;ENSP00000373378:R528G	.|ENSP00000324967:R528G	Q|R	-|-	2|1	0|2	SDK2|SDK2	68938246|68938246	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.160000|0.160000	0.22226|0.22226	4.482000|4.482000	0.60257|0.60257	1.538000|1.538000	0.49270|0.49270	0.379000|0.379000	0.24179|0.24179	CAG|AGG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	T	NM_019064	-	Missense_Mutation	71426651	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71426651	T	C	71426651	5	2	119	1	0	0	0	0	0	0	1	0	13977	1594	55	5	5072	5	SDK2	17	71426651	Splice_Site	SNP	T	TCGA-DX-AB2P-01A-11D-A387-09	24305268	71426651	9768559	39	8881											
DOT1L	84444	genome.wustl.edu	37	chr19	2214468	2214468	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccatccctatcccctcAgctcaaggctcgctgcgagg	9	17	2	0			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr19:2214468A>T	ENST00000398665.3	+	19	1833		c.e19-1		AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_Splice_Site	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						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)		CTATCCCCTCAGCTCAAGGCT	0.642																																																	0								ENSG00000104885						31	34	33					19																	2214468		2112	4242	6354	DOT1L	SO:0001630	splice_region_variant	0			-	HGNC	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.1798-1A>T	19.37:g.2214468A>T		Somatic	0	85	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	118	8.53	O60379|Q96JL1	Splice_Site	SNP							-	e19-2	ENST00000398665.3	37	c.1798-2	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973506	0.34848	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000440640	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.637	0.62227	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOT1L	2165468	1.000000	0.71417	0.884000	0.34674	0.224000	0.24922	8.539000	0.90637	1.873000	0.54277	0.459000	0.35465	.	-	-		0.642	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	protein_coding	OTTHUMT00000318066.1	A	NM_032482	-	Intron	2214468	1	no_errors	ENST00000398665	ensembl	human	known	74_37	splice_site	SNP	0.997	T	T	2214468	A	T	2214468	5	4	119	1	0	0	0	0	0	0	1	0	4711	202	7	5	1870	5	DOT1L	19	2214468	Splice_Site	SNP	A	TCGA-DX-AB2P-01A-11D-A387-09		2214468	56914515	40	8882											
COL5A3	50509	genome.wustl.edu	37	chr19	10079110	10079110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcctggcaacccctgaTctcctttctcaccagcttct	6	18	3	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr19:10079110T>C	ENST00000264828.3	-	59	4350	c.4265A>G	c.(4264-4266)gAt>gGt	p.D1422G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1422	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)			CAACCCCTGATCTCCTTTCTC	0.607																																																	0								ENSG00000080573						106	119	115					19																	10079110		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.4265A>G	19.37:g.10079110T>C	ENSP00000264828:p.Asp1422Gly	Somatic	0	29	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.D1422G	ENST00000264828.3	37	c.4265	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	T	11.13	1.547765	0.27652	.	.	ENSG00000080573	ENST00000264828	D	0.93426	-3.22	4.13	3.08	0.35506	.	0.000000	0.64402	D	0.000001	D	0.95781	0.8627	M	0.89287	3.02	0.49582	D	0.999807	D	0.67145	0.996	P	0.60609	0.877	D	0.94226	0.7472	10	0.52906	T	0.07	.	7.9718	0.30132	0.1829:0.0:0.0:0.8171	.	1422	P25940	CO5A3_HUMAN	G	1422	ENSP00000264828:D1422G	ENSP00000264828:D1422G	D	-	2	0	COL5A3	9940110	1.000000	0.71417	0.895000	0.35142	0.103000	0.19146	5.557000	0.67313	0.596000	0.29794	0.482000	0.46254	GAT	-	NULL		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	T	NM_015719	-		10079110	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10079110	T	C	10079110	3	2	119	1	0	0	0	0	1	0	0	0	3700	1435	50	5	1008	5	COL5A3	19	10079110	Missense_Mutation	SNP	T	TCGA-DX-AB2P-01A-11D-A387-09	7864642	10079110	49049873	41	8883											
UNC13A	23025	genome.wustl.edu	37	chr19	17753760	17753760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgacacggcagatttgtcaGttcgcttgtctgcagggcag	13	11	2	1			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr19:17753760G>T	ENST00000519716.2	-	20	2365	c.2366C>A	c.(2365-2367)aCt>aAt	p.T789N	UNC13A_ENST00000550896.1_Missense_Mutation_p.T787N|UNC13A_ENST00000552293.1_Missense_Mutation_p.T789N|UNC13A_ENST00000551649.1_Missense_Mutation_p.T789N|UNC13A_ENST00000252773.7_Missense_Mutation_p.T789N|UNC13A_ENST00000428389.2_Missense_Mutation_p.T877N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	789					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGATTTGTCAGTTCGCTTGTC	0.502																																																	0								ENSG00000130477						43	43	43					19																	17753760		1958	4130	6088	UNC13A	SO:0001583	missense	0			-	HGNC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2366C>A	19.37:g.17753760G>T	ENSP00000429562:p.Thr789Asn	Somatic	0	39	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	E5RHY9	Missense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T877N	ENST00000519716.2	37	c.2630	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268926	0.59540	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	3.29	3.29	0.37713	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.82591	0.5070	M	0.82630	2.6	0.58432	D	0.999996	D	0.59357	0.985	D	0.64687	0.928	D	0.85526	0.1206	10	0.87932	D	0	-12.011	12.4149	0.55488	0.0:0.0:1.0:0.0	.	789	Q9UPW8	UN13A_HUMAN	N	789;877;789;789;789;787	ENSP00000429562:T789N;ENSP00000400409:T877N;ENSP00000252773:T789N;ENSP00000447236:T789N;ENSP00000447572:T789N;ENSP00000446831:T787N	ENSP00000252773:T789N	T	-	2	0	UNC13A	17614760	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	9.512000	0.98008	1.570000	0.49709	0.313000	0.20887	ACT	-	superfamily_C2_dom		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	protein_coding	OTTHUMT00000376169.2	G	XM_038604	-		17753760	-1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17753760	G	T	17753760	3	4	119	1	0	0	0	0	1	0	0	0	16991	1029	36	3	2841	3	UNC13A	19	17753760	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	7674650	17753760	41375223	42	8884											
MAG	4099	genome.wustl.edu	37	chr19	35786326	35786326	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagaatgatattcctcacGgcactgcctctgttctggat	8	11	3	2	rs201625172		TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr19:35786326G>T	ENST00000392213.3	+	3	174	c.15G>T	c.(13-15)acG>acT	p.T5T	MAG_ENST00000597035.1_Silent_p.T5T|MAG_ENST00000361922.4_Silent_p.T5T|MAG_ENST00000537831.2_Intron	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	5					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TATTCCTCACGGCACTGCCTC	0.557																																																	0								ENSG00000105695						247	243	245					19																	35786326		2203	4300	6503	MAG	SO:0001819	synonymous_variant	0			-	HGNC	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.15G>T	19.37:g.35786326G>T		Somatic	0	42	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B7Z2E5|F5GYC0|Q567S4	Silent	SNP							pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T5	ENST00000392213.3	37	c.15	CCDS12455.1	19																																																																																			-	NULL		0.557	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	protein_coding	OTTHUMT00000466071.1	G	NM_080600	-		35786326	1	no_errors	ENST00000392213	ensembl	human	known	74_37	silent	SNP	0.353	T	T	35786326	G	T	35786326	2	4	119	1	0	0	0	0	0	0	0	1	9164	1103	39	3		3	MAG	19	35786326	Silent	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	18032566	35786326	23342657	43	8885											
ELSPBP1	64100	genome.wustl.edu	37	chr19	48517529	48517529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgtgccaccagagccGtgtacaacggccagtggaag	14	11	0	1	rs145096514	byFrequency	TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr19:48517529G>A	ENST00000339841.2	+	3	350	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	58	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CACCAGAGCCGTGTACAACGG	0.483													g|||	3	0.000599042	8e-04	0	5008	,	,		16494	0.002		0	False		,,,				2504	0																0								ENSG00000169393						162	140	148					19																	48517529		2203	4300	6503	ELSPBP1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.172G>A	19.37:g.48517529G>A	ENSP00000340660:p.Val58Met	Somatic	0	51	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	28	56.25	Q96RT0|Q9H4C8	Missense_Mutation	SNP							pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.V58M	ENST00000339841.2	37	c.172	CCDS12708.1	19	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.17	1.276506	0.23307	.	.	ENSG00000169393	ENST00000339841	T	0.49720	0.77	3.27	-3.13	0.05266	Fibronectin, type II, collagen-binding (4);Kringle-like fold (1);	0.831139	0.09799	N	0.754340	T	0.39860	0.1094	L	0.51914	1.62	0.09310	N	1	P	0.38922	0.651	B	0.41666	0.363	T	0.36040	-0.9764	10	0.33940	T	0.23	.	7.7531	0.28909	0.6183:0.0:0.3817:0.0	.	58	Q96BH3	ESPB1_HUMAN	M	58	ENSP00000340660:V58M	ENSP00000340660:V58M	V	+	1	0	ELSPBP1	53209341	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.847000	0.04331	-0.535000	0.06307	0.544000	0.68410	GTG	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.483	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ELSPBP1	protein_coding	OTTHUMT00000465207.1	G		rs145096514		48517529	1	no_errors	ENST00000339841	ensembl	human	known	74_37	missense	SNP	0.000	A	A	48517529	G	A	48517529	3	1	119	1	0	0	0	0	1	0	0	0	5085	1145	40	1	178	1	ELSPBP1	19	48517529	Missense_Mutation	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09	12731203	48517529	10611454	44	8886											
MYO18B	84700	genome.wustl.edu	37	chr22	26286800	26286800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgctggagagtgagcgGgcagagcggctacaggcctt	18	9	0	3			TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chr22:26286800G>A	ENST00000407587.2	+	26	4564	c.4395G>A	c.(4393-4395)cgG>cgA	p.R1465R	MYO18B_ENST00000335473.7_Silent_p.R1464R|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Silent_p.R1464R|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1464	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						AGAGTGAGCGGGCAGAGCGGC	0.602																																																	0								ENSG00000133454						57	63	61					22																	26286800		2110	4235	6345	MYO18B	SO:0001819	synonymous_variant	0			-	HGNC	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.4395G>A	22.37:g.26286800G>A		Somatic	0	48	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	26	51.85	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1464	ENST00000407587.2	37	c.4392		22																																																																																			-	superfamily_tRNA-bd_arm		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	G	NM_032608	-		26286800	1	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	SNP	0.998	A	A	26286800	G	A	26286800	2	1	119	1	0	0	0	0	0	0	0	1	10068	1219	43	2		2	MYO18B	22	26286800	Silent	SNP	G	TCGA-DX-AB2P-01A-11D-A387-09		26286800	25017766	45	8887											
ATRX	546	genome.wustl.edu	37	chrX	76952083	76952084	+	Frame_Shift_Ins	INS	-	-	A													ccttttggcaagctctgcatINSagtaatatcattttctgaat							TCGA-DX-AB2P-01A-11D-A387-09	TCGA-DX-AB2P-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	229d1a12-6364-4b92-8764-35b6beafc697	6fb55b48-5d07-4cfe-b318-bdb9270807e7	g.chrX:76952083_76952084insA	ENST00000373344.5	-	5	565_566	c.351_352insT	c.(349-354)actatgfs	p.M118fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.M118fs|ATRX_ENST00000373341.1_Frame_Shift_Ins_p.M79fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	118					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGCTCTGCATAGTAATATCAT	0.272			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.352dupT	X.37:g.76952084_76952084dupA	ENSP00000362441:p.Met118fs	Somatic	0	36	0		0.680786368864844				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	10	71.43	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M117fs	ENST00000373344.5	37	c.352_351	CCDS14434.1	X																																																																																			-	NULL		0.272	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	-	NM_000489			76952084	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	76952084	-	A	76952083	7	5	119	1	0	1	1	0	0	0	0	0	1208	1406	49	0	7250	0	ATRX	23	76952083	Frame_Shift_Ins	INS	-	TCGA-DX-AB2P-01A-11D-A387-09		76952083	78318477	46	8888											
CDK11B	984	genome.wustl.edu	37	chr1	1576445	1576445	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcattttctcgttcttcatCttcactcatttcttcctcac	1	14	9	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:1576445C>T	ENST00000407249.3	-	11	1047	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	CDK11B_ENST00000317673.7_Missense_Mutation_p.D348N|CDK11B_ENST00000341832.6_Missense_Mutation_p.D303N|CDK11B_ENST00000340677.5_Missense_Mutation_p.D337N			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	360	Glu-rich.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGTTCTTCATCTTCACTCATT	0.552																																																	0								ENSG00000248333						48	44	45					1																	1576445		1796	4033	5829	CDK11B	SO:0001583	missense	0			-	HGNC	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"Cyclin-dependent kinases"	1729	protein-coding gene	gene with protein product		176873	"cell division cycle 2-like 1 (PITSLRE proteins)"	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1048G>A	1.37:g.1576445C>T	ENSP00000464036:p.Asp350Asn	Somatic	0	31	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D350N	ENST00000407249.3	37	c.1048		1																																																																																			-	NULL		0.552	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	CDK11B	protein_coding		C	NM_001787	-		1576445	-1	no_errors	ENST00000407249	ensembl	human	known	74_37	missense	SNP	0.267	T	T	1576445	C	T	1576445	3	4	120	1	0	0	0	0	1	0	0	0	3129	913	32	2	1353	2	CDK11B	1	1576445	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09		1576445	247674176	1	8889											
FBXO42	54455	genome.wustl.edu	37	chr1	16578257	16578257	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcccactaggagcctggctGaagaccaccacacactgtcc	8	17	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:16578257G>A	ENST00000375592.3	-	10	1278	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	354										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAGCCTGGCTGAAGACCACCA	0.512																																																	0								ENSG00000037637						64	65	65					1																	16578257		2203	4300	6503	FBXO42	SO:0001819	synonymous_variant	0			-	HGNC	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1062C>T	1.37:g.16578257G>A		Somatic	0	21	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP							pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.F354	ENST00000375592.3	37	c.1062	CCDS30613.1	1																																																																																			-	NULL		0.512	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	protein_coding	OTTHUMT00000006285.1	G		-		16578257	-1	no_errors	ENST00000375592	ensembl	human	known	74_37	silent	SNP	1.000	A	A	16578257	G	A	16578257	2	1	120	1	0	0	0	0	0	0	0	1	5753	1281	45	2		2	FBXO42	1	16578257	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	15001812	16578257	232672364	2	8890											
PTPRU	10076	genome.wustl.edu	37	chr1	29618406	29618406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaacatgaccaaggccAccgtcaactaccgccaggag	11	14	1	2	rs527888616		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:29618406A>G	ENST00000345512.3	+	16	2503	c.2374A>G	c.(2374-2376)Acc>Gcc	p.T792A	PTPRU_ENST00000428026.2_Missense_Mutation_p.T782A|PTPRU_ENST00000373779.3_Missense_Mutation_p.T782A|PTPRU_ENST00000356870.3_Missense_Mutation_p.T782A|PTPRU_ENST00000323874.8_Missense_Mutation_p.T782A|PTPRU_ENST00000460170.2_Missense_Mutation_p.T782A|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	792	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACCAAGGCCACCGTCAACTA	0.647																																																	0								ENSG00000060656						75	59	65					1																	29618406		2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2374A>G	1.37:g.29618406A>G	ENSP00000334941:p.Thr792Ala	Somatic	0	62	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T792A	ENST00000345512.3	37	c.2374	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825757	0.32237	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.32515	1.47;1.51;1.52;1.52;1.45;1.52	4.36	4.36	0.52297	.	0.134342	0.50627	D	0.000108	T	0.19604	0.0471	N	0.21194	0.64	0.31014	N	0.718954	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.001;0.001	T	0.10359	-1.0633	9	.	.	.	.	11.7359	0.51765	1.0:0.0:0.0:0.0	.	782;782;782;782;792	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	A	792;782;782;782;782;782	ENSP00000334941:T792A;ENSP00000362884:T782A;ENSP00000349333:T782A;ENSP00000314987:T782A;ENSP00000392332:T782A;ENSP00000432906:T782A	.	T	+	1	0	PTPRU	29490993	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.953000	0.56699	1.959000	0.56917	0.533000	0.62120	ACC	-	NULL		0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	A		-		29618406	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	0.992	G	G	29618406	A	G	29618406	3	3	120	1	0	0	0	0	1	0	0	0	12821	159	6	5	2436	5	PTPRU	1	29618406	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	13040149	29618406	219632215	3	8891											
PPAP2B	8613	genome.wustl.edu	37	chr1	56990009	56990009	+	Frame_Shift_Del	DEL	G	G	-													agttctgaatgtagccttcaGagcagttgatctggctgaaa							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:56990009delG	ENST00000371250.3	-	3	1066	c.515delC	c.(514-516)tctfs	p.S172fs		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	172					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GTAGCCTTCAGAGCAGTTGAT	0.532																																																	0								ENSG00000162407						146	143	144					1																	56990009		2203	4300	6503	PPAP2B	SO:0001589	frameshift_variant	0				HGNC	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.515delC	1.37:g.56990009delG	ENSP00000360296:p.Ser172fs	Somatic	0	53	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Frame_Shift_Del	DEL							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S172fs	ENST00000371250.3	37	c.515	CCDS604.1	1																																																																																			-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.532	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	protein_coding	OTTHUMT00000022334.2	G	NM_003713			56990009	-1	no_errors	ENST00000371250	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	56990009	G	-	56990009	7	5	120	1	0	1	0	1	0	0	0	0	12293	942	33	0	436	0	PPAP2B	1	56990009	Frame_Shift_Del	DEL	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	27371603	56990009	192260612	4	8892	159	2	1	68		3	2	15	N	GCTGAAATCAGGGTTGCAGACACTCA_GCAGTTGAT_G	4.658007e-05
PPAP2B	8613	genome.wustl.edu	37	chr1	56990011	56990019	+	In_Frame_Del	DEL	GCAGTTGAT	GCAGTTGAT	-													ttctgaatgtagccttcagaGcagttgatctggctgaaatc							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	GCAGTTGAT	GCAGTTGAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:56990011_56990019delGCAGTTGAT	ENST00000371250.3	-	3	1056_1064	c.505_513delATCAACTGC	c.(505-513)atcaactgcdel	p.INC169del		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	169					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGCCTTCAGAGCAGTTGATCTGGCTGAAA	0.545																																																	0								ENSG00000162407																																			PPAP2B	SO:0001651	inframe_deletion	0				HGNC	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.505_513delATCAACTGC	1.37:g.56990011_56990019delGCAGTTGAT	ENSP00000360296:p.Ile169_Cys171del	Somatic					0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	In_Frame_Del	DEL							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.INC169in_frame_del	ENST00000371250.3	37	c.513_505	CCDS604.1	1																																																																																			-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.545	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	protein_coding	OTTHUMT00000022334.2	GCAGTTGAT	NM_003713			56990019	-1	no_errors	ENST00000371250	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.985	-	-	56990019	GCAGTTGAT	-	56990011	7	5	120	1	0	1	0	1	0	0	0	0	12293	963	34	0	438	0	PPAP2B	1	56990011	In_Frame_Del	DEL	GCAGTTGAT	TCGA-DX-AB2Q-01A-11D-A38Z-09	2	56990011	192260610	5	8893	159	2	1	68		3	2	15	N	GCTGAAATCAGGGTTGCAGACACTCA_GCAGTTGAT_G	4.658007e-05
PPAP2B	8613	genome.wustl.edu	37	chr1	56990023	56990048	+	Frame_Shift_Del	DEL	GCTGAAATCAGGGTTGCAGACACTCA	GCTGAAATCAGGGTTGCAGACACTCA	-													ccttcagagcagttgatctgGctgaaatcagggttgcagac					rs200079726|rs370936833		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	GCTGAAATCAGGGTTGCAGACACTCA	GCTGAAATCAGGGTTGCAGACACTCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:56990023_56990048delGCTGAAATCAGGGTTGCAGACACTCA	ENST00000371250.3	-	3	1027_1052	c.476_501delTGAGTGTCTGCAACCCTGATTTCAGC	c.(475-501)ttgagtgtctgcaaccctgatttcagcfs	p.LSVCNPDFS159fs		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	159					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGTTGATCTGGCTGAAATCAGGGTTGCAGACACTCAAGAAGTGAGG	0.527																																																	0								ENSG00000162407																																			PPAP2B	SO:0001589	frameshift_variant	0				HGNC	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.476_501delTGAGTGTCTGCAACCCTGATTTCAGC	1.37:g.56990023_56990048delGCTGAAATCAGGGTTGCAGACACTCA	ENSP00000360296:p.Leu159fs	Somatic					0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Frame_Shift_Del	DEL							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L159fs	ENST00000371250.3	37	c.501_476	CCDS604.1	1																																																																																			-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.527	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	protein_coding	OTTHUMT00000022334.2	GCTGAAATCAGGGTTGCAGACACTCA	NM_003713			56990048	-1	no_errors	ENST00000371250	ensembl	human	known	74_37	frame_shift_del	DEL	0.984:0.982:0.984:1.000:1.000:1.000:0.997:1.000:1.000:0.887:1.000:1.000:1.000:0.999:0.987:1.000:1.000:1.000:1.000:1.000:1.000:0.031:0.353:0.991:0.995:1.000	-	-	56990048	GCTGAAATCAGGGTTGCAGACACTCA	-	56990023	7	5	120	1	0	1	0	1	0	0	0	0	12293	1194	42	0	450	0	PPAP2B	1	56990023	Frame_Shift_Del	DEL	GCTGAAATCAGGGTTGCAGACACTCA	TCGA-DX-AB2Q-01A-11D-A38Z-09	12	56990023	192260598	6	8894			1	68		3	2	15	N	GCTGAAATCAGGGTTGCAGACACTCA_GCAGTTGAT_G	4.658007e-05
SGIP1	84251	genome.wustl.edu	37	chr1	67206385	67206385	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggaagattcctgatatctCtcagaagtcagaaaatggag	11	6	3	4			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:67206385C>T	ENST00000371037.4	+	23	2356	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	SGIP1_ENST00000435165.2_Missense_Mutation_p.S265F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S562F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S791F|SGIP1_ENST00000371035.3_Missense_Mutation_p.S550F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S563F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	760	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTGATATCTCTCAGAAGTCA	0.313																																																	0								ENSG00000118473						50	51	50					1																	67206385		2203	4295	6498	SGIP1	SO:0001583	missense	0			-	HGNC	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2279C>T	1.37:g.67206385C>T	ENSP00000360076:p.Ser760Phe	Somatic	0	169	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	66	37.74	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP							pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.S791F	ENST00000371037.4	37	c.2372	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833739	0.91036	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.86	5.86	0.93980	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.994	D;D;D;D;D	0.87578	0.986;0.998;0.998;0.996;0.986	T	0.74740	-0.3563	10	0.87932	D	0	-19.5572	20.5632	0.99335	0.0:1.0:0.0:0.0	.	790;265;362;550;760	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	F	791;563;550;790;763;562;760;265	ENSP00000237247:S791F;ENSP00000360078:S563F;ENSP00000360074:S550F;ENSP00000360075:S562F;ENSP00000360076:S760F;ENSP00000395525:S265F	ENSP00000237247:S791F	S	+	2	0	SGIP1	66978973	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.214000	0.77958	2.937000	0.99478	0.650000	0.86243	TCT	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C		0.313	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	protein_coding	OTTHUMT00000025395.4	C	NM_032291	-		67206385	1	no_errors	ENST00000237247	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67206385	C	T	67206385	3	4	120	1	0	0	0	0	1	0	0	0	14214	913	32	2	2369	2	SGIP1	1	67206385	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	10216362	67206385	182044236	7	8895											
GTF2B	2959	genome.wustl.edu	37	chr1	89325834	89325834	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacttacaactatatttcGaggtagattgattctgtctg	8	6	2	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:89325834G>A	ENST00000370500.5	-	4	512	c.394C>T	c.(394-396)Cga>Tga	p.R132*	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	132			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACTATATTTCGAGGTAGATTG	0.363																																																	0								ENSG00000137947						148	135	140					1																	89325834		2203	4300	6503	GTF2B	SO:0001587	stop_gained	0			-	HGNC	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"General transcription factors"	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.394C>T	1.37:g.89325834G>A	ENSP00000359531:p.Arg132*	Somatic	0	69	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	A8K1A7|Q5JS30	Nonsense_Mutation	SNP							pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.R132*	ENST00000370500.5	37	c.394	CCDS715.1	1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706380	0.68615	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	.	.	.	5.38	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-21.7317	14.1977	0.65682	0.0:0.0:0.6381:0.3619	.	.	.	.	X	132;131;127	.	ENSP00000359531:R132X	R	-	1	2	GTF2B	89098422	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.393000	0.34497	1.339000	0.45563	0.591000	0.81541	CGA	-	pfam_TFIIB_cyclin,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like		0.363	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2B	protein_coding	OTTHUMT00000029279.1	G	NM_001514	-		89325834	-1	no_errors	ENST00000370500	ensembl	human	known	74_37	nonsense	SNP	0.993	A	A	89325834	G	A	89325834	4	1	120	1	0	0	0	0	0	1	0	0	6857	1066	37	1	572	1	GTF2B	1	89325834	Nonsense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	22119449	89325834	159924787	8	8896											
SPAG17	200162	genome.wustl.edu	37	chr1	118509355	118509355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaataactctatattcagttCtgtctgcataccagctgcca	5	11	4	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:118509355C>T	ENST00000336338.5	-	47	6474	c.6409G>A	c.(6409-6411)Gaa>Aaa	p.E2137K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2137						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATATTCAGTTCTGTCTGCATA	0.428																																																	0								ENSG00000155761						111	103	106					1																	118509355		2203	4300	6503	SPAG17	SO:0001583	missense	0			-	HGNC		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6409G>A	1.37:g.118509355C>T	ENSP00000337804:p.Glu2137Lys	Somatic	0	73	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q8NAZ1|Q9NT21	Missense_Mutation	SNP							NULL	p.E2137K	ENST00000336338.5	37	c.6409	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162880	0.78226	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18502	2.21	5.45	5.45	0.79879	.	0.239076	0.33496	N	0.004860	T	0.13114	0.0318	L	0.39397	1.21	0.28884	N	0.894235	P	0.49961	0.93	P	0.50440	0.641	T	0.02797	-1.1109	10	0.35671	T	0.21	.	16.2164	0.82224	0.0:1.0:0.0:0.0	.	2137	Q6Q759	SPG17_HUMAN	K	2137;617	ENSP00000337804:E2137K	ENSP00000337804:E2137K	E	-	1	0	SPAG17	118310878	0.983000	0.35010	0.962000	0.40283	0.667000	0.39255	4.450000	0.60041	2.555000	0.86185	0.655000	0.94253	GAA	-	NULL		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	protein_coding	OTTHUMT00000033723.1	C	NM_206996	-		118509355	-1	no_errors	ENST00000336338	ensembl	human	known	74_37	missense	SNP	0.856	T	T	118509355	C	T	118509355	3	4	120	1	0	0	0	0	1	0	0	0	14987	922	32	2	270	2	SPAG17	1	118509355	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	29183521	118509355	130741266	9	8897											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204228811	204228811	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttagggaggctgttgtgGggtggctgctggtggtgctt	21	5	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:204228811G>T	ENST00000272203.3	-	8	898	c.582C>A	c.(580-582)ccC>ccA	p.P194P	PLEKHA6_ENST00000414478.1_Silent_p.P214P|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	194	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCTGTTGTGGGGTGGCTGCT	0.617																																																	0								ENSG00000143850						58	54	55					1																	204228811		2203	4299	6502	PLEKHA6	SO:0001819	synonymous_variant	0			-	HGNC	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.582C>A	1.37:g.204228811G>T		Somatic	0	36	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A7MD51|Q5VTI6	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P194	ENST00000272203.3	37	c.582	CCDS1444.1	1																																																																																			-	NULL		0.617	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	protein_coding	OTTHUMT00000087889.3	G	NM_014935	-		204228811	-1	no_errors	ENST00000272203	ensembl	human	known	74_37	silent	SNP	0.069	T	T	204228811	G	T	204228811	2	4	120	1	0	0	0	0	0	0	0	1	12062	1219	43	3		3	PLEKHA6	1	204228811	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	85719456	204228811	45021810	10	8898											
USH2A	7399	genome.wustl.edu	37	chr1	215853665	215853665	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagccacaacaccaatGcgatatgttgtgaatggttc	9	9	0	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:215853665G>T	ENST00000307340.3	-	62	12506	c.12120C>A	c.(12118-12120)cgC>cgA	p.R4040R	USH2A_ENST00000366943.2_Silent_p.R4040R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4040	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACACCAATGCGATATGTTG	0.398										HNSCC(13;0.011)																																							0								ENSG00000042781						119	123	122					1																	215853665		2203	4300	6503	USH2A	SO:0001819	synonymous_variant	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12120C>A	1.37:g.215853665G>T		Somatic	0	36	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q5VVM9|Q6S362|Q9NS27	Silent	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.R4040	ENST00000307340.3	37	c.12120	CCDS31025.1	1																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		215853665	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	SNP	0.809	T	T	215853665	G	T	215853665	2	4	120	1	0	0	0	0	0	0	0	1	17043	1306	46	3		3	USH2A	1	215853665	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	11624854	215853665	33396956	11	8899											
KIAA1804	84451	genome.wustl.edu	37	chr1	233489571	233489571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctatggagtgctgctgtgGgaactgctcaccggagaagt	15	8	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr1:233489571G>T	ENST00000366624.3	+	3	1266	c.1005G>T	c.(1003-1005)tgG>tgT	p.W335C	MLK4_ENST00000366623.3_Missense_Mutation_p.W335C	NM_032435.2	NP_115811.2																					TGCTGCTGTGGGAACTGCTCA	0.488																																																	0								ENSG00000143674						103	99	100					1																	233489571		2203	4300	6503	MLK4	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000366624.3:c.1005G>T	1.37:g.233489571G>T	ENSP00000355583:p.Trp335Cys	Somatic	0	67	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.W335C	ENST00000366624.3	37	c.1005	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285824	0.80803	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.85955	-2.05;-2.05	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92708	0.7682	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93602	0.6931	10	0.87932	D	0	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	335;335	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	C	335	ENSP00000355582:W335C;ENSP00000355583:W335C	ENSP00000355582:W335C	W	+	3	0	RP5-862P8.2	231556194	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.648000	0.98483	2.538000	0.85594	0.563000	0.77884	TGG	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.488	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	protein_coding	OTTHUMT00000092495.1	G		-		233489571	1	no_errors	ENST00000366624	ensembl	human	known	74_37	missense	SNP	1.000	T	T	233489571	G	T	233489571	3	4	120	1	0	0	0	0	1	0	0	0	8261	1241	43	3	1015	3	KIAA1804	1	233489571	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	17635906	233489571	15761050	12	8900											
MYT1L	23040	genome.wustl.edu	37	chr2	1921033	1921033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgcggtgatgtgggTacagcccagttacgtggccg	16	10	0	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr2:1921033T>C	ENST00000399161.2	-	11	2309	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	MYT1L_ENST00000428368.2_Missense_Mutation_p.Y519C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	521					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGATGTGGGTACAGCCCAGT	0.562																																																	0								ENSG00000186487						193	203	200					2																	1921033		2006	4190	6196	MYT1L	SO:0001583	missense	0			-	HGNC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1562A>G	2.37:g.1921033T>C	ENSP00000382114:p.Tyr521Cys	Somatic	0	75	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	35	33.96	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.Y521C	ENST00000399161.2	37	c.1562		2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647020	0.87958	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70869	-0.48;-0.52	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88685	0.3205	10	0.87932	D	0	-39.597	16.0193	0.80468	0.0:0.0:0.0:1.0	.	521;519	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	521;467;519	ENSP00000382114:Y521C;ENSP00000396103:Y519C	ENSP00000295067:Y467C	Y	-	2	0	MYT1L	1900040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.190000	0.69967	0.533000	0.62120	TAC	-	pfam_Znf_C2HC		0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	T	NM_015025	-		1921033	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	SNP	1.000	C	C	1921033	T	C	1921033	3	2	120	1	0	0	0	0	1	0	0	0	10109	1638	57	5	2058	5	MYT1L	2	1921033	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		1921033	241278340	13	8901											
EMX1	2016	genome.wustl.edu	37	chr2	73161038	73161038	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccggtggcgcattgccacGaagcaggccaatggggagga	16	10	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr2:73161038G>A	ENST00000258106.6	+	3	1206	c.828G>A	c.(826-828)acG>acA	p.T276T	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	243					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						GCATTGCCACGAAGCAGGCCA	0.597																																																	0								ENSG00000135638						68	78	75					2																	73161038		2135	4252	6387	EMX1	SO:0001819	synonymous_variant	0			-	HGNC	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.828G>A	2.37:g.73161038G>A		Somatic	0	62	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	52	32.05	Q0D2P0|Q53T30|Q86XB0	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T276	ENST00000258106.6	37	c.828	CCDS1921.2	2																																																																																			-	NULL		0.597	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX1	protein_coding	OTTHUMT00000251994.3	G		-		73161038	1	no_errors	ENST00000258106	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73161038	G	A	73161038	2	1	120	1	0	0	0	0	0	0	0	1	5109	1045	37	1		1	EMX1	2	73161038	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	71240005	73161038	170038335	14	8902											
POLE4	56655	genome.wustl.edu	37	chr2	75186521	75186521	+	Frame_Shift_Del	DEL	A	A	-													tactgttgcgctcagcagggAaaaaggaaaacccttcagag							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr2:75186521delA	ENST00000483063.1	+	2	455	c.267delA	c.(265-267)ggafs	p.G89fs	POLE4_ENST00000459636.1_3'UTR	NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit	89					DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			lung(1)	1					Cladribine(DB00242)	CTCAGCAGGGAAAAAGGAAAA	0.493																																																	0								ENSG00000115350						87	85	86					2																	75186521		2203	4300	6503	POLE4	SO:0001589	frameshift_variant	0				HGNC	AF261688	CCDS1957.1	2p12	2012-05-18	2012-05-18		ENSG00000115350	ENSG00000115350		"DNA polymerases"	18755	protein-coding gene	gene with protein product		607269	"polymerase (DNA-directed), epsilon 4 (p12 subunit)"			10801849	Standard	NM_019896		Approved	p12	uc002snf.3	Q9NR33	OTTHUMG00000129971	ENST00000483063.1:c.267delA	2.37:g.75186521delA	ENSP00000420176:p.Gly89fs	Somatic	0	75	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q53TR2	Frame_Shift_Del	DEL							pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.R91fs	ENST00000483063.1	37	c.267	CCDS1957.1	2																																																																																			-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold		0.493	POLE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE4	protein_coding	OTTHUMT00000252237.2	A	NM_019896			75186521	1	no_errors	ENST00000483063	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	75186521	A	-	75186521	7	5	120	1	0	1	0	1	0	0	0	0	12201	233	9	0	273	0	POLE4	2	75186521	Frame_Shift_Del	DEL	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	2025483	75186521	168012852	15	8903											
TFCP2L1	29842	genome.wustl.edu	37	chr2	121983174	121983174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaacaggattcatcttGgaagttctgcaccatctgag	9	9	4	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr2:121983174G>T	ENST00000263707.5	-	14	1454	c.1357C>A	c.(1357-1359)Caa>Aaa	p.Q453K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	453					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GATTCATCTTGGAAGTTCTGC	0.537																																																	0								ENSG00000115112						125	129	128					2																	121983174		2203	4300	6503	TFCP2L1	SO:0001583	missense	0			-	HGNC	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1357C>A	2.37:g.121983174G>T	ENSP00000263707:p.Gln453Lys	Somatic	0	64	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	9.80	Q4ZG43	Missense_Mutation	SNP							pfam_CP2,superfamily_SAM/pointed	p.Q453K	ENST00000263707.5	37	c.1357	CCDS2134.1	2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600341	0.28534	.	.	ENSG00000115112	ENST00000263707;ENST00000537910	T	0.17054	2.3	5.7	5.7	0.88788	.	0.134476	0.53938	D	0.000044	T	0.14917	0.0360	L	0.36672	1.1	0.47308	D	0.999388	B	0.09022	0.002	B	0.10450	0.005	T	0.09885	-1.0654	10	0.02654	T	1	.	19.8348	0.96652	0.0:0.0:1.0:0.0	.	453	Q9NZI6	TF2L1_HUMAN	K	453;6	ENSP00000263707:Q453K	ENSP00000263707:Q453K	Q	-	1	0	TFCP2L1	121699644	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.569000	0.45973	2.688000	0.91661	0.609000	0.83330	CAA	-	NULL		0.537	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	protein_coding	OTTHUMT00000338539.1	G	NM_014553	-		121983174	-1	no_errors	ENST00000263707	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121983174	G	T	121983174	3	4	120	1	0	0	0	0	1	0	0	0	15803	1357	47	3	90	3	TFCP2L1	2	121983174	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	46796653	121983174	121216199	16	8904											
HS6ST1	9394	genome.wustl.edu	37	chr2	129075797	129075797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggccggcagtcgcacggcAcctcgaggcgtacgttctgc	15	15	1	0	rs199993343		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr2:129075797A>C	ENST00000259241.6	-	1	354	c.341T>G	c.(340-342)gTg>gGg	p.V114G	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	114					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.V114G(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTCGCACGGCACCTCGAGGCG	0.662																																																	1	Substitution - Missense(1)	liver(1)						ENSG00000136720						2	4	3					2																	129075797		1196	3527	4723	HS6ST1	SO:0001583	missense	0			-	HGNC	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.341T>G	2.37:g.129075797A>C	ENSP00000259241:p.Val114Gly	Somatic	0	29	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP							pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.V114G	ENST00000259241.6	37	c.341	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	a	15.67	2.902312	0.52227	.	.	ENSG00000136720	ENST00000259241	D	0.82526	-1.62	3.69	3.69	0.42338	.	0.000000	0.85682	U	0.000000	T	0.77452	0.4132	N	0.22421	0.69	0.80722	D	1	D	0.53462	0.96	P	0.51777	0.679	T	0.74592	-0.3614	9	.	.	.	.	10.2637	0.43443	1.0:0.0:0.0:0.0	.	114	O60243	H6ST1_HUMAN	G	114	ENSP00000259241:V114G	.	V	-	2	0	HS6ST1	128792267	0.855000	0.29742	1.000000	0.80357	0.942000	0.58702	0.276000	0.18716	1.308000	0.44962	0.260000	0.18958	GTG	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	protein_coding	OTTHUMT00000331572.1	A	NM_004807	rs199993343		129075797	-1	no_errors	ENST00000259241	ensembl	human	known	74_37	missense	SNP	1.000	C	C	129075797	A	C	129075797	3	2	120	1	0	0	0	0	1	0	0	0	7372	159	6	5	902	5	HS6ST1	2	129075797	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	7092623	129075797	114123576	17	8905											
SLC4A7	9497	genome.wustl.edu	37	chr3	27442283	27442283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagatttctccaggaaataTtgtgtgctgttatattatct	7	5	2	1	rs200933810		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr3:27442283T>C	ENST00000295736.5	-	16	2442	c.2372A>G	c.(2371-2373)aAt>aGt	p.N791S	SLC4A7_ENST00000435667.2_Missense_Mutation_p.N676S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N672S|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N672S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N783S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N787S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N800S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N341S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N787S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N667S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	791					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCAGGAAATATTGTGTGCTGT	0.333													T|||	1	0.000199681	0	0	5008	,	,		17814	0		0.001	False		,,,				2504	0																0								ENSG00000033867						149	149	149					3																	27442283		2203	4297	6500	SLC4A7	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2372A>G	3.37:g.27442283T>C	ENSP00000295736:p.Asn791Ser	Somatic	0	95	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.40	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.N800S	ENST00000295736.5	37	c.2399	CCDS33721.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	4.223	0.040322	0.08148	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	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;-1.14;-1.14;-1.14;-1.14	5.43	-7.92	0.01160	Bicarbonate transporter, C-terminal (1);	0.851184	0.10692	N	0.645096	T	0.46521	0.1397	N	0.02830	-0.485	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.001	T	0.39742	-0.9599	10	0.23302	T	0.38	.	10.3214	0.43769	0.0:0.4091:0.2279:0.3629	.	787;672;783;787;800;341;667;791;672	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	342;791;667;800;787;672;783;672;787;676;341;687	ENSP00000411031:N342S;ENSP00000295736:N791S;ENSP00000416368:N667S;ENSP00000390394:N800S;ENSP00000414797:N787S;ENSP00000394252:N672S;ENSP00000406605:N783S;ENSP00000407382:N672S;ENSP00000406804:N787S;ENSP00000395336:N676S;ENSP00000373429:N341S;ENSP00000388703:N687S	ENSP00000295736:N791S	N	-	2	0	SLC4A7	27417287	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.558000	0.05978	-1.237000	0.02539	-1.377000	0.01181	AAT	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.333	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	protein_coding	OTTHUMT00000341230.2	T	NM_003615	rs200933810		27442283	-1	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	SNP	0.000	C	C	27442283	T	C	27442283	3	2	120	1	0	0	0	0	1	0	0	0	14666	1493	52	5	1312	5	SLC4A7	3	27442283	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		27442283	170580147	18	8906											
STAB1	23166	genome.wustl.edu	37	chr3	52550092	52550092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctggtttctttggcacgCtgtgtgagccatgcccaggg	14	12	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr3:52550092C>A	ENST00000321725.6	+	38	4058	c.3982C>A	c.(3982-3984)Ctg>Atg	p.L1328M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1328	Laminin EGF-like 1. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTTGGCACGCTGTGTGAGCC	0.682																																																	0								ENSG00000010327						23	25	24					3																	52550092		2200	4297	6497	STAB1	SO:0001583	missense	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3982C>A	3.37:g.52550092C>A	ENSP00000312946:p.Leu1328Met	Somatic	0	60	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L1328M	ENST00000321725.6	37	c.3982	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401570	0.11696	.	.	ENSG00000010327	ENST00000321725	D	0.84070	-1.8	4.72	1.7	0.24286	.	0.389424	0.25388	N	0.031022	T	0.57315	0.2045	N	0.08118	0	0.20764	N	0.999855	P	0.36144	0.539	B	0.28709	0.093	T	0.50915	-0.8771	10	0.33141	T	0.24	.	4.1731	0.10339	0.2736:0.5295:0.0:0.197	.	1328	Q9NY15	STAB1_HUMAN	M	1328	ENSP00000312946:L1328M	ENSP00000312946:L1328M	L	+	1	2	STAB1	52525132	0.908000	0.30866	0.471000	0.27229	0.158000	0.22134	1.560000	0.36331	0.525000	0.28522	0.462000	0.41574	CTG	-	NULL		0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	C	NM_015136	-		52550092	1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	SNP	0.168	A	A	52550092	C	A	52550092	3	1	120	1	0	0	0	0	1	0	0	0	15244	796	28	3	4132	3	STAB1	3	52550092	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	25107809	52550092	145472338	19	8907											
EPHA3	2042	genome.wustl.edu	37	chr3	89259017	89259017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgattcttcagtgggaagAgatcagtggtgtggatgaac	14	4	3	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr3:89259017A>G	ENST00000336596.2	+	3	386	c.161A>G	c.(160-162)gAg>gGg	p.E54G	EPHA3_ENST00000452448.2_Missense_Mutation_p.E54G|EPHA3_ENST00000494014.1_Missense_Mutation_p.E54G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	54	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)		CAGTGGGAAGAGATCAGTGGT	0.408										TSP Lung(6;0.00050)																																							0								ENSG00000044524						44	44	44					3																	89259017		2203	4300	6503	EPHA3	SO:0001583	missense	0			-	HGNC	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.161A>G	3.37:g.89259017A>G	ENSP00000337451:p.Glu54Gly	Somatic	0	50	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	Q9H2V3|Q9H2V4	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E54G	ENST00000336596.2	37	c.161	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105161	0.77096	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.12569	2.67;2.67;2.67	5.34	5.34	0.76211	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.89163	3.01	0.80722	D	1	D;D	0.69078	0.997;0.969	D;P	0.79108	0.992;0.851	T	0.52756	-0.8533	9	.	.	.	.	15.3238	0.74144	1.0:0.0:0.0:0.0	.	54;54	P29320;P29320-2	EPHA3_HUMAN;.	G	54	ENSP00000337451:E54G;ENSP00000399926:E54G;ENSP00000419190:E54G	.	E	+	2	0	EPHA3	89341707	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.339000	0.96797	2.020000	0.59435	0.460000	0.39030	GAG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	A	NM_005233	-		89259017	1	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	SNP	1.000	G	G	89259017	A	G	89259017	3	3	120	1	0	0	0	0	1	0	0	0	5170	304	11	5	171	5	EPHA3	3	89259017	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	36708925	89259017	108763413	20	8908											
MYH15	22989	genome.wustl.edu	37	chr3	108182019	108182020	+	Frame_Shift_Ins	INS	-	-	AATACAG													gtctgttggaagacttctgaINSaatacagctaccactgtttc							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr3:108182019_108182020insAATACAG	ENST00000273353.3	-	17	1918_1919	c.1862_1863insCTGTATT	c.(1861-1863)tttfs	p.-621fs	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							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						AAGACTTCTGAAATACAGCTAC	0.396																																																	0								ENSG00000144821																																			MYH15	SO:0001589	frameshift_variant	0				HGNC	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.1856_1862dupCTGTATT	3.37:g.108182020_108182026dupAATACAG	ENSP00000273353:p.Phe621fs	Somatic					0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Ins	INS							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q622fs	ENST00000273353.3	37	c.1863_1862	CCDS43127.1	3																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.396	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	-	XM_036988			108182020	-1	no_errors	ENST00000273353	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:0.977	AATACAG	AATACAG	108182020	-	AATACAG	108182019	7	5	120	1	0	1	1	0	0	0	0	0	10036	243	9	0	4081	0	MYH15	3	108182019	Frame_Shift_Ins	INS	-	TCGA-DX-AB2Q-01A-11D-A38Z-09	18923002	108182019	89840411	21	8909											
ALG1L	200810	genome.wustl.edu	37	chr3	125652482	125652482	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agatgcatcaccagcctgctCccagcatccagctccatgaa	7	16	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr3:125652482C>A	ENST00000340333.3	-	2	199	c.36G>T	c.(34-36)ggG>ggT	p.G12G		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	12							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CCAGCCTGCTCCCAGCATCCA	0.622																																																	0								ENSG00000189366						28	27	27					3																	125652482		2203	4300	6503	ALG1L	SO:0001819	synonymous_variant	0			-	HGNC	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	33721	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"		"asparagine-linked glycosylation 1-like"				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.36G>T	3.37:g.125652482C>A		Somatic	0	56	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	D3DNA5	Silent	SNP							NULL	p.G12	ENST00000340333.3	37	c.36	CCDS33840.1	3																																																																																			-	NULL		0.622	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1L	protein_coding	OTTHUMT00000356347.1	C	NM_001015050	-		125652482	-1	no_errors	ENST00000340333	ensembl	human	known	74_37	silent	SNP	0.000	A	A	125652482	C	A	125652482	2	1	120	1	0	0	0	0	0	0	0	1	517	842	30	3		3	ALG1L	3	125652482	Silent	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	17470463	125652482	72369948	22	8910											
NDST4	64579	genome.wustl.edu	37	chr4	115997952	115997952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctctccacgaagagaaGgacagtagggtccgttttgg	14	8	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr4:115997952G>A	ENST00000264363.2	-	2	919	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	81	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACGAAGAGAAGGACAGTAGGG	0.433																																																	0								ENSG00000138653						166	184	178					4																	115997952		2203	4300	6503	NDST4	SO:0001583	missense	0			-	HGNC	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.241C>T	4.37:g.115997952G>A	ENSP00000264363:p.Leu81Phe	Somatic	0	94	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	52	32.05	Q2KHM8	Missense_Mutation	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L81F	ENST00000264363.2	37	c.241	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350954	0.41599	.	.	ENSG00000138653	ENST00000264363	T	0.59083	0.29	5.41	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	M	0.85373	2.75	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.78735	-0.2088	10	0.87932	D	0	.	9.8691	0.41164	0.1523:0.0:0.8477:0.0	.	81	Q9H3R1	NDST4_HUMAN	F	81	ENSP00000264363:L81F	ENSP00000264363:L81F	L	-	1	0	NDST4	116217401	1.000000	0.71417	0.964000	0.40570	0.381000	0.30169	4.080000	0.57620	2.524000	0.85096	0.467000	0.42956	CTT	-	pfam_Heparan_SO4_deacetylase		0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	G	NM_022569	-		115997952	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	SNP	0.968	A	A	115997952	G	A	115997952	3	1	120	1	0	0	0	0	1	0	0	0	10260	1000	35	2	2429	2	NDST4	4	115997952	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		115997952	75156324	23	8911											
ACCN5	51802	genome.wustl.edu	37	chr4	156773430	156773430	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaccatgattaaaagtAaaacaatttccatattcagt	4	7	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr4:156773430A>G	ENST00000537611.2	-	4	670	c.624T>C	c.(622-624)ttT>ttC	p.F208F		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	208					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GATTAAAAGTAAAACAATTTC	0.333																																																	0								ENSG00000256394						98	98	98					4																	156773430		2203	4299	6502	ASIC5	SO:0001819	synonymous_variant	0			-	HGNC	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.624T>C	4.37:g.156773430A>G		Somatic	0	151	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78		Silent	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC	p.F208	ENST00000537611.2	37	c.624	CCDS3793.1	4																																																																																			-	pfam_Na+channel_ASC,prints_Na+channel_ASC		0.333	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	protein_coding	OTTHUMT00000366464.1	A		-		156773430	-1	no_errors	ENST00000537611	ensembl	human	known	74_37	silent	SNP	1.000	G	G	156773430	A	G	156773430	2	3	120	1	0	0	0	0	0	0	0	1	132	359	13	5		5	ACCN5	4	156773430	Silent	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	40775478	156773430	34380846	24	8912											
FAT1	2195	genome.wustl.edu	37	chr4	187557841	187557841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcattcccgtcttcgatGctgtaggagatttctgcatt	9	10	3	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr4:187557841G>T	ENST00000441802.2	-	5	4079	c.3870C>A	c.(3868-3870)agC>agA	p.S1290R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1290	Cadherin 11. {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						CGTCTTCGATGCTGTAGGAGA	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						240	240	240					4																	187557841		1900	4122	6022	FAT1	SO:0001583	missense	0			-	HGNC	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.3870C>A	4.37:g.187557841G>T	ENSP00000406229:p.Ser1290Arg	Somatic	0	48	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S1290R	ENST00000441802.2	37	c.3870	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349245	0.82132	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54071	0.59	5.31	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.75605	-0.3260	10	0.59425	D	0.04	.	13.9422	0.64062	0.0726:0.0:0.9274:0.0	.	1290	Q14517	FAT1_HUMAN	R	1290	ENSP00000406229:S1290R	ENSP00000260147:S1290R	S	-	3	2	FAT1	187794835	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.754000	0.62191	1.469000	0.48083	0.655000	0.94253	AGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187557841	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187557841	G	T	187557841	3	4	120	1	0	0	0	0	1	0	0	0	5691	1310	46	3	9988	3	FAT1	4	187557841	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	30784411	187557841	3596435	25	8913											
C5orf42	65250	genome.wustl.edu	37	chr5	37239051	37239051	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtgtgtttataaataaTacctgagttgcctagaaagg	9	5	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr5:37239051T>A	ENST00000508244.1	-	7	939	c.846A>T	c.(844-846)gtA>gtT	p.V282V	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Silent_p.V282V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	282						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTATAAATAATACCTGAGTTG	0.318																																																	0								ENSG00000197603						75	64	67					5																	37239051		692	1591	2283	C5orf42	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.846A>T	5.37:g.37239051T>A		Somatic	0	135	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	74	17.78	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP							superfamily_Quino_amine_DH_bsu	p.V282	ENST00000508244.1	37	c.846	CCDS34146.2	5																																																																																			-	superfamily_Quino_amine_DH_bsu		0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	T	NM_023073	-		37239051	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	SNP	0.995	A	A	37239051	T	A	37239051	2	1	120	1	0	0	0	0	0	0	0	1	2303	1393	49	5		5	C5orf42	5	37239051	Silent	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		37239051	143676209	26	8914											
ZNF366	167465	genome.wustl.edu	37	chr5	71739997	71739997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgggcactctccccGtctgactggaacaccggcac	10	18	2	1	rs139894073	byFrequency	TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr5:71739997G>T	ENST00000318442.5	-	5	2311	c.1821C>A	c.(1819-1821)gaC>gaA	p.D607E	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	607	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CACTCTCCCCGTCTGACTGGA	0.662																																																	0								ENSG00000178175						56	67	63					5																	71739997		2203	4298	6501	ZNF366	SO:0001583	missense	0			-	HGNC	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1821C>A	5.37:g.71739997G>T	ENSP00000313158:p.Asp607Glu	Somatic	0	68	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q5HYI9|Q7RTV4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D607E	ENST00000318442.5	37	c.1821	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095026	0.56075	.	.	ENSG00000178175	ENST00000318442	T	0.09073	3.02	5.87	-7.38	0.01407	.	0.075280	0.56097	D	0.000032	T	0.10680	0.0261	L	0.34521	1.04	0.36223	D	0.85213	D	0.57571	0.98	P	0.54100	0.742	T	0.01951	-1.1241	10	0.22706	T	0.39	-31.9748	20.7323	0.99711	0.8912:0.0:0.1088:0.0	.	607	Q8N895	ZN366_HUMAN	E	607	ENSP00000313158:D607E	ENSP00000313158:D607E	D	-	3	2	ZNF366	71775753	0.979000	0.34478	0.004000	0.12327	0.204000	0.24138	0.294000	0.19047	-1.411000	0.02032	-0.793000	0.03317	GAC	-	NULL		0.662	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	protein_coding	OTTHUMT00000218574.3	G		-		71739997	-1	no_errors	ENST00000318442	ensembl	human	known	74_37	missense	SNP	0.777	T	T	71739997	G	T	71739997	3	4	120	1	0	0	0	0	1	0	0	0	17877	1136	40	3	417	3	ZNF366	5	71739997	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	34500946	71739997	109175263	27	8915											
TNPO1	3842	genome.wustl.edu	37	chr5	72184001	72184001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgcgttccataacatGctggactcttagccgctatg	9	11	2	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr5:72184001G>T	ENST00000337273.5	+	13	1826	c.1400G>T	c.(1399-1401)tGc>tTc	p.C467F	TNPO1_ENST00000506351.2_Missense_Mutation_p.C459F|TNPO1_ENST00000454282.1_Missense_Mutation_p.C417F|TNPO1_ENST00000523768.1_Missense_Mutation_p.C417F	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	467					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCCATAACATGCTGGACTCTT	0.502																																																	0								ENSG00000083312						124	121	122					5																	72184001		2203	4300	6503	TNPO1	SO:0001583	missense	0			-	HGNC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1400G>T	5.37:g.72184001G>T	ENSP00000336712:p.Cys467Phe	Somatic	0	27	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP							pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.C467F	ENST00000337273.5	37	c.1400	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665952	0.88251	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.81404	-0.0948	10	0.87932	D	0	-7.096	19.8805	0.96895	0.0:0.0:1.0:0.0	.	417;467	Q92973-3;Q92973	.;TNPO1_HUMAN	F	467;417;417;459	ENSP00000336712:C467F;ENSP00000398524:C417F;ENSP00000428899:C417F;ENSP00000425118:C459F	ENSP00000336712:C467F	C	+	2	0	TNPO1	72219757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.778000	0.95560	0.655000	0.94253	TGC	-	pfam_HEAT,superfamily_ARM-type_fold		0.502	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	protein_coding	OTTHUMT00000218577.3	G	NM_002270	-		72184001	1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72184001	G	T	72184001	3	4	120	1	0	0	0	0	1	0	0	0	16342	1319	46	3	1450	3	TNPO1	5	72184001	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	444004	72184001	108731259	28	8916											
GPR98	84059	genome.wustl.edu	37	chr5	90001356	90001356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactacaagaggctaacatAacaattcagcttttcatcaa	4	9	3	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr5:90001356A>G	ENST00000405460.2	+	37	8622	c.8526A>G	c.(8524-8526)atA>atG	p.I2842M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2842	Calx-beta 20. {ECO:0000255}.				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)			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)		AGGCTAACATAACAATTCAGC	0.373																																																	0								ENSG00000164199						134	130	131					5																	90001356		1873	4103	5976	GPR98	SO:0001583	missense	0			-	HGNC	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.8526A>G	5.37:g.90001356A>G	ENSP00000384582:p.Ile2842Met	Somatic	0	66	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I2842M	ENST00000405460.2	37	c.8526	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317333	0.23908	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29142	1.58	6.05	-0.668	0.11392	Na-Ca exchanger/integrin-beta4 (1);	1.033940	0.07556	N	0.916233	T	0.15609	0.0376	N	0.08118	0	0.80722	D	1	B;B	0.19706	0.038;0.021	B;B	0.22152	0.038;0.038	T	0.05971	-1.0853	10	0.46703	T	0.11	.	6.1294	0.20197	0.54:0.2188:0.2412:0.0	.	2842;2842	E7ETI5;Q8WXG9	.;GPR98_HUMAN	M	2842	ENSP00000384582:I2842M	ENSP00000296619:I2842M	I	+	3	3	GPR98	90037112	0.001000	0.12720	0.001000	0.08648	0.890000	0.51754	0.045000	0.14013	-0.312000	0.08741	-0.263000	0.10527	ATA	-	smart_Calx_beta		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	A	NM_032119	-		90001356	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	0.019	G	G	90001356	A	G	90001356	3	3	120	1	0	0	0	0	1	0	0	0	6723	352	13	5	8672	5	GPR98	5	90001356	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	17817355	90001356	90913904	29	8917											
PCDHB14	56122	genome.wustl.edu	37	chr5	140605261	140605261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtcgctgctcggtgccCgagggtccctttccagggca	16	13	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr5:140605261C>T	ENST00000239449.4	+	1	2184	c.2184C>T	c.(2182-2184)ccC>ccT	p.P728P	PCDHB14_ENST00000515856.2_Silent_p.P575P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	728					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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGTGCCCGAGGGTCCCT	0.662																																					Ovarian(141;50 1831 27899 33809 37648)												0								ENSG00000120327						72	86	82					5																	140605261		2203	4297	6500	PCDHB14	SO:0001819	synonymous_variant	0			-	HGNC	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2184C>T	5.37:g.140605261C>T		Somatic	0	65	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P728	ENST00000239449.4	37	c.2184	CCDS4256.1	5																																																																																			-	NULL		0.662	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	protein_coding	OTTHUMT00000251814.2	C	NM_018934	-		140605261	1	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	SNP	0.014	T	T	140605261	C	T	140605261	2	4	120	1	0	0	0	0	0	0	0	1	11541	639	23	1		1	PCDHB14	5	140605261	Silent	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	50603905	140605261	40309999	30	8918											
PCDHB15	56121	genome.wustl.edu	37	chr5	140625567	140625567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagagaaatgaccctgAaaatcccagaaactagctcc	7	11	0	5			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr5:140625567A>G	ENST00000231173.3	+	1	421	c.421A>G	c.(421-423)Aaa>Gaa	p.K141E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	141	Cadherin 2. {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(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACCCTGAAAATCCCAGA	0.413																																																	0								ENSG00000113248						70	75	73					5																	140625567		2203	4300	6503	PCDHB15	SO:0001583	missense	0			-	HGNC	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.421A>G	5.37:g.140625567A>G	ENSP00000231173:p.Lys141Glu	Somatic	0	48	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	Q8IUX5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K141E	ENST00000231173.3	37	c.421	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	A	7.360	0.624724	0.14193	.	.	ENSG00000113248	ENST00000231173	T	0.48522	0.81	4.76	3.55	0.40652	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35970	0.0950	N	0.25245	0.725	0.30126	N	0.805255	B	0.18166	0.026	B	0.34779	0.189	T	0.40496	-0.9560	9	0.51188	T	0.08	.	4.8939	0.13740	0.6752:0.1643:0.1605:0.0	.	141	Q9Y5E8	PCDBF_HUMAN	E	141	ENSP00000231173:K141E	ENSP00000231173:K141E	K	+	1	0	PCDHB15	140605751	0.000000	0.05858	1.000000	0.80357	0.681000	0.39784	0.312000	0.19397	0.739000	0.32628	0.260000	0.18958	AAA	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.413	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	protein_coding	OTTHUMT00000251804.2	A	NM_018935	-		140625567	1	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140625567	A	G	140625567	3	3	120	1	0	0	0	0	1	0	0	0	11542	247	9	5	423	5	PCDHB15	5	140625567	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	20306	140625567	40289693	31	8919											
TRIM38	10475	genome.wustl.edu	37	chr6	25966859	25966859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggacacagctactgcCacttgtgtataacagacttc	8	11	0	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr6:25966859C>T	ENST00000357085.3	+	3	585	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	TRIM38_ENST00000349458.3_Missense_Mutation_p.H37Y	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	37					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGCTACTGCCACTTGTGTAT	0.498																																																	0								ENSG00000112343						95	91	93					6																	25966859		2203	4300	6503	TRIM38	SO:0001583	missense	0			-	HGNC	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.109C>T	6.37:g.25966859C>T	ENSP00000349596:p.His37Tyr	Somatic	0	55	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	B2R862	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.H37Y	ENST00000357085.3	37	c.109	CCDS4568.1	6	.	.	.	.	.	.	.	.	.	.	c	11.28	1.590789	0.28357	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.07567	3.18;3.18;3.18	4.37	-5.93	0.02254	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.976990	0.02232	N	0.064974	T	0.00998	0.0033	N	0.05534	-0.03	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40701	-0.9549	10	0.52906	T	0.07	.	1.8723	0.03211	0.4282:0.227:0.2022:0.1426	.	37;37	B2R862;O00635	.;TRI38_HUMAN	Y	37	ENSP00000443976:H37Y;ENSP00000230099:H37Y;ENSP00000349596:H37Y	ENSP00000230099:H37Y	H	+	1	0	TRIM38	26074838	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.244000	0.08903	-1.345000	0.02214	-0.237000	0.12165	CAC	-	smart_Znf_RING,pfscan_Znf_RING		0.498	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	protein_coding	OTTHUMT00000040076.2	C		-		25966859	1	no_errors	ENST00000349458	ensembl	human	known	74_37	missense	SNP	0.004	T	T	25966859	C	T	25966859	3	4	120	1	0	0	0	0	1	0	0	0	16519	594	21	2	111	2	TRIM38	6	25966859	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09		25966859	145148208	32	8920											
OR2H1	26716	genome.wustl.edu	37	chr6	29429643	29429643	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggttgtcttcacttccTacctcttgaccctggtgggc	10	12	3	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr6:29429643T>A	ENST00000377136.1	+	4	562	c.97T>A	c.(97-99)Tac>Aac	p.Y33N	OR2H1_ENST00000396792.2_Missense_Mutation_p.Y33N|OR2H1_ENST00000377132.1_Missense_Mutation_p.Y33N|OR2H1_ENST00000442615.1_Missense_Mutation_p.Y33N|OR2H1_ENST00000377133.1_Missense_Mutation_p.Y33N|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, 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)			large_intestine(5)|lung(12)	17						CTTCACTTCCTACCTCTTGAC	0.527																																																	0								ENSG00000204688						212	205	207					6																	29429643		1511	2709	4220	OR2H1	SO:0001583	missense	0			-	HGNC	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.97T>A	6.37:g.29429643T>A	ENSP00000366340:p.Tyr33Asn	Somatic	0	74	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	35	31.37	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y33N	ENST00000377136.1	37	c.97	CCDS4660.1	6	.	.	.	.	.	.	.	.	.	.	T	14.95	2.687507	0.48097	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58	2.88	2.88	0.33553	.	0.000000	0.36854	N	0.002378	T	0.22322	0.0538	H	0.97635	4.045	0.32984	D	0.524051	D	0.89917	1.0	D	0.91635	0.999	T	0.40553	-0.9557	10	0.87932	D	0	.	11.6835	0.51472	0.0:0.0:0.0:1.0	.	33	Q9GZK4	OR2H1_HUMAN	N	33	ENSP00000366340:Y33N;ENSP00000366337:Y33N;ENSP00000393254:Y33N;ENSP00000366336:Y33N;ENSP00000380010:Y33N	ENSP00000366336:Y33N	Y	+	1	0	OR2H1	29537622	0.895000	0.30542	0.550000	0.28217	0.248000	0.25809	4.071000	0.57556	1.556000	0.49512	0.491000	0.48974	TAC	-	prints_GPCR_Rhodpsn		0.527	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H1	protein_coding	OTTHUMT00000194014.3	T		-		29429643	1	no_errors	ENST00000377132	ensembl	human	known	74_37	missense	SNP	0.987	A	A	29429643	T	A	29429643	3	1	120	1	0	0	0	0	1	0	0	0	11003	1522	53	5	99	5	OR2H1	6	29429643	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09	3462784	29429643	141685424	33	8921											
TNXB	7148	genome.wustl.edu	37	chr6	32056601	32056601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggtagctgactgcccGgccccgctccgctgtgacag	14	15	0	2	rs542966732		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr6:32056601G>A	ENST00000375244.3	-	6	2941	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	TNXB_ENST00000375247.2_Missense_Mutation_p.R914W			P22105	TENX_HUMAN	tenascin XB	1014					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGACTGCCCGGCCCCGCTCC	0.622													G|||	1	0.000199681	0	0.0014	5008	,	,		18877	0		0	False		,,,				2504	0																0								ENSG00000168477						26	30	29					6																	32056601		2044	4194	6238	TNXB	SO:0001583	missense	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2740C>T	6.37:g.32056601G>A	ENSP00000364393:p.Arg914Trp	Somatic	0	83	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.57	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R914W	ENST00000375244.3	37	c.2740		6	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886198	0.72410	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57907	0.37;0.37	5.39	5.39	0.77823	.	0.567347	0.15303	N	0.269534	T	0.60392	0.2265	L	0.61036	1.89	0.20196	N	0.999921	D	0.76494	0.999	D	0.64042	0.921	T	0.56817	-0.7916	10	0.66056	D	0.02	.	16.643	0.85134	0.0:0.0:1.0:0.0	.	914	P22105-3	.	W	914	ENSP00000364393:R914W;ENSP00000364396:R914W	ENSP00000364393:R914W	R	-	1	2	TNXB	32164579	0.665000	0.27466	1.000000	0.80357	0.990000	0.78478	2.081000	0.41596	2.548000	0.85928	0.561000	0.74099	CGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32056601	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	SNP	0.914	A	A	32056601	G	A	32056601	3	1	120	1	0	0	0	0	1	0	0	0	16353	1115	39	1	12129	1	TNXB	6	32056601	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	2626958	32056601	139058466	34	8922											
TMEM217	221468	genome.wustl.edu	37	chr6	37186447	37186447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgattctgacctctttaatGtcaaagtcattgttggtgag	9	6	4	3	rs376324772		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr6:37186447G>T	ENST00000336655.2	-	2	399	c.360C>A	c.(358-360)gaC>gaA	p.D120E	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.D120E	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	120						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						CCTCTTTAATGTCAAAGTCAT	0.428																																																	0								ENSG00000172738						150	147	148					6																	37186447		2203	4300	6503	TMEM217	SO:0001583	missense	0			-	HGNC		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.360C>A	6.37:g.37186447G>T	ENSP00000338164:p.Asp120Glu	Somatic	0	48	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	56	16.42	Q8TC54	Missense_Mutation	SNP							NULL	p.D120E	ENST00000336655.2	37	c.360	CCDS4831.1	6	.	.	.	.	.	.	.	.	.	.	G	0.385	-0.926542	0.02377	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.45	1.57	0.23409	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.001	B;B	0.16722	0.016;0.005	T	0.44097	-0.9350	8	0.02654	T	1	-0.6489	3.117	0.06377	0.2228:0.0:0.5632:0.214	.	120;120	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	E	120	.	ENSP00000338164:D120E	D	-	3	2	TMEM217	37294425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.249000	0.18216	0.561000	0.29186	0.543000	0.68304	GAC	-	NULL		0.428	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	protein_coding	OTTHUMT00000357542.1	G	NM_145316	-		37186447	-1	no_errors	ENST00000336655	ensembl	human	known	74_37	missense	SNP	0.000	T	T	37186447	G	T	37186447	3	4	120	1	0	0	0	0	1	0	0	0	16147	1368	48	3	341	3	TMEM217	6	37186447	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	5129846	37186447	133928620	35	8923											
DGKB	1607	genome.wustl.edu	37	chr7	14647116	14647116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggatttaatagatacTggaattttctgtaaattcta	8	4	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:14647116T>A	ENST00000403951.2	-	17	1798	c.1379A>T	c.(1378-1380)cAg>cTg	p.Q460L	DGKB_ENST00000406247.3_Missense_Mutation_p.Q460L|DGKB_ENST00000444700.2_Missense_Mutation_p.Q441L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.Q460L|DGKB_ENST00000407950.1_Missense_Mutation_p.Q452L|DGKB_ENST00000258767.5_Missense_Mutation_p.Q460L|DGKB_ENST00000402815.1_Missense_Mutation_p.Q459L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	460	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAATAGATACTGGAATTTTCT	0.289																																																	0								ENSG00000136267						44	42	43					7																	14647116		1779	4044	5823	DGKB	SO:0001583	missense	0			-	HGNC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1379A>T	7.37:g.14647116T>A	ENSP00000385780:p.Gln460Leu	Somatic	0	342	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	276	9.51	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.Q460L	ENST00000403951.2	37	c.1379	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337526	0.81911	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.6	5.6	0.85130	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.46157	1.445	0.58432	D	0.999995	P;P;P;P	0.51933	0.866;0.949;0.949;0.837	P;P;P;P	0.60473	0.665;0.875;0.875;0.516	T	0.15780	-1.0425	10	0.51188	T	0.08	.	16.0737	0.80955	0.0:0.0:0.0:1.0	.	459;441;460;460	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	460;460;460;459;452;441;460	ENSP00000385780:Q460L;ENSP00000382260:Q460L;ENSP00000258767:Q460L;ENSP00000384909:Q459L;ENSP00000385031:Q452L;ENSP00000388451:Q441L;ENSP00000386066:Q460L	ENSP00000258767:Q460L	Q	-	2	0	DGKB	14613641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.812000	0.75226	2.248000	0.74166	0.459000	0.35465	CAG	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.289	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	protein_coding	OTTHUMT00000326356.2	T	NM_004080	-		14647116	-1	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14647116	T	A	14647116	3	1	120	1	0	0	0	0	1	0	0	0	4468	1580	55	5	1090	5	DGKB	7	14647116	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		14647116	144491547	36	8924											
MEOX2	4223	genome.wustl.edu	37	chr7	15725770	15725770	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccagttggtttgcagagcCtggtgctgctgctgctgatg	15	9	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:15725770C>G	ENST00000262041.5	-	1	667	c.258G>C	c.(256-258)caG>caC	p.Q86H	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	86	Poly-Gln.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTGCAGAGCCtggtgctgct	0.647																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0								ENSG00000106511						21	22	22					7																	15725770		2202	4298	6500	MEOX2	SO:0001583	missense	0			-	HGNC		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.258G>C	7.37:g.15725770C>G	ENSP00000262041:p.Gln86His	Somatic	0	73	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	72	16.09	B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Q86H	ENST00000262041.5	37	c.258	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079521	0.36662	.	.	ENSG00000106511	ENST00000262041	D	0.90563	-2.69	5.33	0.803	0.18691	.	0.150709	0.43260	D	0.000597	T	0.81645	0.4866	N	0.22421	0.69	0.33251	D	0.558461	P	0.44734	0.842	B	0.41571	0.36	T	0.80944	-0.1156	10	0.45353	T	0.12	-18.9261	7.8321	0.29349	0.1152:0.6562:0.0:0.2286	.	86	P50222	MEOX2_HUMAN	H	86	ENSP00000262041:Q86H	ENSP00000262041:Q86H	Q	-	3	2	MEOX2	15692295	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	0.250000	0.18235	0.119000	0.18210	0.655000	0.94253	CAG	-	NULL		0.647	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	protein_coding	OTTHUMT00000326058.2	C	NM_005924	-		15725770	-1	no_errors	ENST00000262041	ensembl	human	known	74_37	missense	SNP	1.000	G	G	15725770	C	G	15725770	3	3	120	1	0	0	0	0	1	0	0	0	9476	680	24	4	668	4	MEOX2	7	15725770	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	1078654	15725770	143412893	37	8925											
PKD1L1	168507	genome.wustl.edu	37	chr7	47894630	47894630	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaatgtcgttttatttctcCtattatcctgtcatcacaaa	3	10	3	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:47894630C>G	ENST00000289672.2	-	30	4759	c.4709G>C	c.(4708-4710)aGg>aCg	p.R1570T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1570	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTATTTCTCCTATTATCCTG	0.353																																																	0								ENSG00000158683						69	70	69					7																	47894630		2203	4300	6503	PKD1L1	SO:0001583	missense	0			-	HGNC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4709G>C	7.37:g.47894630C>G	ENSP00000289672:p.Arg1570Thr	Somatic	0	109	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	27.12	Q6UWK1	Missense_Mutation	SNP							pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.R1570T	ENST00000289672.2	37	c.4709	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336187	0.24253	.	.	ENSG00000158683	ENST00000289672	T	0.19105	2.17	4.94	-2.75	0.05914	Egg jelly receptor, REJ-like (1);	2.641920	0.01148	N	0.006347	T	0.16085	0.0387	L	0.51422	1.61	0.09310	N	1	B	0.34015	0.435	B	0.27608	0.081	T	0.15321	-1.0441	10	0.13470	T	0.59	-0.395	6.0521	0.19790	0.1385:0.2825:0.0:0.579	.	1570	Q8TDX9	PK1L1_HUMAN	T	1570	ENSP00000289672:R1570T	ENSP00000289672:R1570T	R	-	2	0	PKD1L1	47861155	0.000000	0.05858	0.000000	0.03702	0.748000	0.42578	-1.432000	0.02430	-0.366000	0.08064	0.655000	0.94253	AGG	-	pfscan_REJ-like		0.353	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	protein_coding	OTTHUMT00000340974.1	C	NM_138295	-		47894630	-1	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	SNP	0.000	G	G	47894630	C	G	47894630	3	3	120	1	0	0	0	0	1	0	0	0	11966	681	24	4	3952	4	PKD1L1	7	47894630	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	32168860	47894630	111244033	38	8926											
PSPH	5723	genome.wustl.edu	37	chr7	56088848	56088848	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgaccgtgctgtcaacatCaaaacacacagcatctgctg	8	12	3	1	rs549748554		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:56088848C>T	ENST00000395471.3	-	4	863	c.58G>A	c.(58-60)Gat>Aat	p.D20N	PSPH_ENST00000275605.3_Missense_Mutation_p.D20N|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	20					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGTCAACATCAAAACACACA	0.438																																																	0								ENSG00000146733						115	84	94					7																	56088848		2203	4300	6503	PSPH	SO:0001583	missense	0			-	HGNC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.58G>A	7.37:g.56088848C>T	ENSP00000378854:p.Asp20Asn	Somatic	0	65	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	155	12.43	B2RCR5|Q7Z3S5	Missense_Mutation	SNP							pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.D20N	ENST00000395471.3	37	c.58	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405723	0.83230	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15	5.6	5.6	0.85130	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96129	0.9091	10	0.87932	D	0	-28.3175	18.5962	0.91230	0.0:1.0:0.0:0.0	.	20;20	Q53EY1;P78330	.;SERB_HUMAN	N	20	ENSP00000275605:D20N;ENSP00000378854:D20N;ENSP00000398653:D20N;ENSP00000399660:D20N;ENSP00000390952:D20N	ENSP00000275605:D20N	D	-	1	0	PSPH	56056342	1.000000	0.71417	0.948000	0.38648	0.099000	0.18886	7.629000	0.83207	2.652000	0.90054	0.591000	0.81541	GAT	-	pfam_HAD-like_dom,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like		0.438	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	protein_coding	OTTHUMT00000343304.1	C	NM_004577	-		56088848	-1	no_errors	ENST00000275605	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56088848	C	T	56088848	3	4	120	1	0	0	0	0	1	0	0	0	12722	826	29	2	639	2	PSPH	7	56088848	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	8194218	56088848	103049815	39	8927											
AKAP9	10142	genome.wustl.edu	37	chr7	91641895	91641895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttttgctcaagaggaaaaGatcaaggaacttcagaaaat	8	5	3	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:91641895G>A	ENST00000359028.2	+	10	3732	c.3507G>A	c.(3505-3507)aaG>aaA	p.K1169K	AKAP9_ENST00000356239.3_Silent_p.K1157K|AKAP9_ENST00000358100.2_Silent_p.K1169K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1169					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGGAAAAGATCAAGGAAC	0.333			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0								ENSG00000127914						79	82	81					7																	91641895		2203	4300	6503	AKAP9	SO:0001819	synonymous_variant	0			-	HGNC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3507G>A	7.37:g.91641895G>A		Somatic	0	72	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	45	51.61	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP							pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.K1169	ENST00000359028.2	37	c.3507		7																																																																																			-	NULL		0.333	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		G	NM_005751	-		91641895	1	no_errors	ENST00000359028	ensembl	human	known	74_37	silent	SNP	1.000	A	A	91641895	G	A	91641895	2	1	120	1	0	0	0	0	0	0	0	1	459	933	33	2		2	AKAP9	7	91641895	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	35553047	91641895	67496768	40	8928											
ZAN	7455	genome.wustl.edu	37	chr7	100359849	100359849	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctagcacatactctgGcaaactctgtggtttgtgtg	9	11	2	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:100359849G>A	ENST00000348028.3	+	0	4019				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATACTCTGGCAAACTCTGT	0.572																																																	0								ENSG00000146839						109	104	105					7																	100359849		2079	4219	6298	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100359849G>A		Somatic	0	57	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.20	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.G1285D	ENST00000348028.3	37	c.3854		7	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521418	0.27211	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62788	-0.0;-0.0;-0.0	3.95	3.01	0.34805	von Willebrand factor, type D domain (3);	1.743700	0.03214	N	0.176518	T	0.61476	0.2350	L	0.42632	1.34	0.47214	D	0.99935	B;B	0.33135	0.347;0.399	B;B	0.39904	0.209;0.313	T	0.50701	-0.8797	10	0.56958	D	0.05	.	6.9366	0.24470	0.1513:0.0:0.8487:0.0	.	1285;1285	F5H0T8;Q9Y493	.;ZAN_HUMAN	D	1285	ENSP00000445943:G1285D;ENSP00000445091:G1285D;ENSP00000444427:G1285D	ENSP00000423579:G1285D	G	+	2	0	ZAN	100197785	0.000000	0.05858	0.169000	0.22859	0.279000	0.26890	0.234000	0.17930	0.876000	0.35872	0.549000	0.68633	GGC	-	pfam_VWF_type-D,smart_VWF_type-D		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386	-		100359849	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.588	A	A	100359849	G	A	100359849	1	1	120	0	1	0	0	0	0	0	0	0	17520	1203	42	2		2	ZAN	7	100359849	RNA	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	8717954	100359849	58778814	41	8929											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121568222	121568222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttttatagattgggctaatgGatactacagacaacagagaa	9	5	0	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:121568222G>T	ENST00000393386.2	+	2	482	c.71G>T	c.(70-72)gGa>gTa	p.G24V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G24V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	24					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGGCTAATGGATACTACAGA	0.289																																																	0								ENSG00000106278						105	125	119					7																	121568222		2202	4295	6497	PTPRZ1	SO:0001583	missense	0			-	HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.71G>T	7.37:g.121568222G>T	ENSP00000377047:p.Gly24Val	Somatic	1	114	0.87		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.G24V	ENST00000393386.2	37	c.71	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913022	0.52439	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.44881	0.95;0.91	5.84	5.84	0.93424	.	0.238980	0.29389	N	0.012282	T	0.51890	0.1701	N	0.19112	0.55	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55903	-0.8067	10	0.87932	D	0	.	17.2865	0.87143	0.0:0.0:1.0:0.0	.	24;24	C9JFM0;P23471	.;PTPRZ_HUMAN	V	24	ENSP00000377047:G24V;ENSP00000410000:G24V	ENSP00000377047:G24V	G	+	2	0	PTPRZ1	121355458	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.764000	0.68826	2.751000	0.94390	0.655000	0.94253	GGA	-	NULL		0.289	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	G	NM_002851	-		121568222	1	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121568222	G	T	121568222	3	4	120	1	0	0	0	0	1	0	0	0	12822	1174	41	3	77	3	PTPRZ1	7	121568222	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	21208373	121568222	37570441	42	8930											
OR2A25	392138	genome.wustl.edu	37	chr7	143771448	143771448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggaacgggacaatcctgGggctcatctcactggactcc	13	12	2	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr7:143771448G>T	ENST00000408898.2	+	1	174	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GACAATCCTGGGGCTCATCTC	0.562																																																	0								ENSG00000221933						81	84	83					7																	143771448		2203	4300	6503	OR2A25	SO:0001583	missense	0			-	HGNC		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.136G>T	7.37:g.143771448G>T	ENSP00000386167:p.Gly46Trp	Somatic	0	140	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	24	55.56	B2RNC9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G46W	ENST00000408898.2	37	c.136	CCDS43669.1	7	.	.	.	.	.	.	.	.	.	.	G	6.763	0.509650	0.12883	.	.	ENSG00000221933	ENST00000408898	T	0.01084	5.36	4.88	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03520	0.0101	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.46091	-0.9216	9	0.49607	T	0.09	-2.2318	6.2267	0.20711	0.0937:0.0:0.724:0.1823	.	46	A4D2G3	O2A25_HUMAN	W	46	ENSP00000386167:G46W	ENSP00000386167:G46W	G	+	1	0	OR2A25	143402381	0.000000	0.05858	0.916000	0.36221	0.031000	0.12232	-0.655000	0.05348	1.276000	0.44395	0.563000	0.77884	GGG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.562	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A25	protein_coding	OTTHUMT00000350000.1	G		-		143771448	1	no_errors	ENST00000408898	ensembl	human	known	74_37	missense	SNP	0.014	T	T	143771448	G	T	143771448	3	4	120	1	0	0	0	0	1	0	0	0	10980	1232	43	3	138	3	OR2A25	7	143771448	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	22203226	143771448	15367215	43	8931											
DLGAP2	9228	genome.wustl.edu	37	chr8	1639774	1639774	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaattccagcagttttattgGctttgccaacagaatatggt	8	7	0	1	rs376702358		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr8:1639774G>C	ENST00000421627.2	+	10	2672	c.2538G>C	c.(2536-2538)tgG>tgC	p.W846C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	925					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGTTTTATTGGCTTTGCCAAC	0.413																																																	0								ENSG00000198010						77	82	80					8																	1639774		2022	4226	6248	DLGAP2	SO:0001583	missense	0			-	HGNC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2538G>C	8.37:g.1639774G>C	ENSP00000400258:p.Trp846Cys	Somatic	0	52	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP							pfam_GKAP	p.W846C	ENST00000421627.2	37	c.2538	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.285127|3.285127	0.59867|0.59867	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.16897	.|2.31	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.059578	.|0.64402	.|D	.|0.000001	T|T	0.38214|0.38214	0.1032|0.1032	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.991	.|D;D	.|0.85130	.|0.997;0.988	T|T	0.17992|0.17992	-1.0351|-1.0351	5|10	.|0.66056	.|D	.|0.02	-7.3573|-7.3573	17.9404|17.9404	0.89025|0.89025	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|911;925	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	A|C	849|877;846	.|ENSP00000400258:W846C	.|ENSP00000348366:W877C	G|W	+|+	2|3	0|0	DLGAP2|DLGAP2	1627181|1627181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.207000|5.207000	0.65197|0.65197	2.214000|2.214000	0.71695|0.71695	0.655000|0.655000	0.94253|0.94253	GGC|TGG	-	pfam_GKAP		0.413	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	protein_coding	OTTHUMT00000374478.1	G	NM_004745	-		1639774	1	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	SNP	1.000	C	C	1639774	G	C	1639774	3	2	120	1	0	0	0	0	1	0	0	0	4562	1212	42	4	2572	4	DLGAP2	8	1639774	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		1639774	144724248	44	8932											
ADAM28	10863	genome.wustl.edu	37	chr8	24184147	24184147	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattctgttggcgttgttcAggtctgtatgatgataaact	10	5	3	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr8:24184147A>T	ENST00000265769.4	+	10	1081	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.Q324L|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Splice_Site_p.Q91L|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Splice_Site_p.Q71L|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	324	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGCGTTGTTCAGGTCTGTATG	0.343																																					NSCLC(193;488 2149 22258 34798 40734)												0								ENSG00000042980						303	262	276					8																	24184147		2203	4300	6503	ADAM28	SO:0001630	splice_region_variant	0			-	HGNC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.972+1A>T	8.37:g.24184147A>T		Somatic	0	131	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	128	8.57	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q324L	ENST00000265769.4	37	c.971	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999326	0.54147	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.51	5.51	0.81932	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.29652	0.0740	M	0.85462	2.755	0.58432	D	0.999997	B;P;P;P	0.47484	0.372;0.896;0.896;0.696	B;P;P;P	0.53224	0.403;0.721;0.721;0.535	T	0.04281	-1.0963	9	0.51188	T	0.08	.	13.8671	0.63594	1.0:0.0:0.0:0.0	.	91;324;324;324	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	L	324;71;91;324	ENSP00000265769:Q324L;ENSP00000380770:Q71L;ENSP00000443743:Q91L;ENSP00000393699:Q324L	ENSP00000265769:Q324L	Q	+	2	0	ADAM28	24240092	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	4.342000	0.59341	2.210000	0.71456	0.533000	0.62120	CAG	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.343	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	protein_coding	OTTHUMT00000375441.2	A	NM_021778	-	Missense_Mutation	24184147	1	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24184147	A	T	24184147	5	4	120	1	0	0	0	0	0	0	1	0	246	202	7	5	1009	5	ADAM28	8	24184147	Splice_Site	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	22544373	24184147	122179875	45	8933											
PLEKHA2	59339	genome.wustl.edu	37	chr8	38827160	38827160	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttcagaggactccttgttCacgcctcgtcctggggaggg	13	12	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr8:38827160C>T	ENST00000420274.1	+	12	1371	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	379					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			ACTCCTTGTTCACGCCTCGTC	0.652																																																	0								ENSG00000169499						17	20	19					8																	38827160		1896	4104	6000	PLEKHA2	SO:0001819	synonymous_variant	0			-	HGNC	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.1137C>T	8.37:g.38827160C>T		Somatic	0	99	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	188	98	65.73		Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F379	ENST00000420274.1	37	c.1137		8																																																																																			-	NULL		0.652	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	PLEKHA2	protein_coding		C	NM_021623	-		38827160	1	no_errors	ENST00000420274	ensembl	human	known	74_37	silent	SNP	0.148	T	T	38827160	C	T	38827160	2	4	120	1	0	0	0	0	0	0	0	1	12058	825	29	2		2	PLEKHA2	8	38827160	Silent	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	14643013	38827160	107536862	46	8934											
NCALD	83988	genome.wustl.edu	37	chr8	102731522	102731522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttgctgatatagccattTccgtccaggtcgtacatgct	9	12	0	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr8:102731522T>C	ENST00000311028.3	-	5	714	c.336A>G	c.(334-336)ggA>ggG	p.G112G	NCALD_ENST00000522951.1_Silent_p.G112G|NCALD_ENST00000395923.1_Silent_p.G112G|NCALD_ENST00000220931.6_Silent_p.G112G|NCALD_ENST00000519508.2_Silent_p.G112G|NCALD_ENST00000521599.1_Silent_p.G112G	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	112	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TATAGCCATTTCCGTCCAGGT	0.458																																																	0								ENSG00000104490						129	122	124					8																	102731522		2203	4300	6503	NCALD	SO:0001819	synonymous_variant	0			-	HGNC	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.336A>G	8.37:g.102731522T>C		Somatic	0	33	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	34	34.62	P29554|Q8IYC3|Q9H0W2	Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.G112	ENST00000311028.3	37	c.336	CCDS6292.1	8																																																																																			-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom		0.458	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	protein_coding	OTTHUMT00000380732.2	T		-		102731522	-1	no_errors	ENST00000311028	ensembl	human	known	74_37	silent	SNP	0.099	C	C	102731522	T	C	102731522	2	2	120	1	0	0	0	0	0	0	0	1	10203	1770	62	5		5	NCALD	8	102731522	Silent	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09	63904362	102731522	43632500	47	8935											
MPDZ	8777	genome.wustl.edu	37	chr9	13217183	13217183	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgtttaaaattacccaaTtttttatctccaatgtagcc	3	8	1	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr9:13217183T>C	ENST00000319217.7	-	9	1444	c.1197A>G	c.(1195-1197)aaA>aaG	p.K399K	MPDZ_ENST00000381015.4_Silent_p.K399K|MPDZ_ENST00000381022.2_Silent_p.K399K|MPDZ_ENST00000541718.1_Silent_p.K399K|MPDZ_ENST00000546205.1_Silent_p.K399K|MPDZ_ENST00000536827.1_Silent_p.K399K|MPDZ_ENST00000447879.1_Silent_p.K399K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	399	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		AATTACCCAATTTTTTATCTC	0.303																																																	0								ENSG00000107186						57	53	54					9																	13217183		1790	4052	5842	MPDZ	SO:0001819	synonymous_variant	0			-	HGNC	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.1197A>G	9.37:g.13217183T>C		Somatic	0	149	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.K399	ENST00000319217.7	37	c.1197		9																																																																																			-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.303	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	T	NM_003829	-		13217183	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	silent	SNP	0.998	C	C	13217183	T	C	13217183	2	2	120	1	0	0	0	0	0	0	0	1	9724	1490	52	5		5	MPDZ	9	13217183	Silent	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		13217183	127996248	48	8936											
UNC13B	10497	genome.wustl.edu	37	chr9	35386248	35386248	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactccacatatgaatatatCttcaacaactgccacgactt	3	12	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr9:35386248C>G	ENST00000378495.3	+	23	3027	c.2805C>G	c.(2803-2805)atC>atG	p.I935M	UNC13B_ENST00000378496.4_Missense_Mutation_p.I935M|UNC13B_ENST00000396787.1_Missense_Mutation_p.I947M	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	935					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAATATATCTTCAACAACT	0.493																																																	0								ENSG00000198722						60	61	60					9																	35386248		2203	4300	6503	UNC13B	SO:0001583	missense	0			-	HGNC	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2805C>G	9.37:g.35386248C>G	ENSP00000367756:p.Ile935Met	Somatic	0	48	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q5VYM8	Missense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I935M	ENST00000378495.3	37	c.2805	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179523	0.57800	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85171	-1.83;-1.76;-1.95	4.76	3.71	0.42584	Calcium-dependent secretion activator (1);	0.045892	0.85682	D	0.000000	D	0.87970	0.6312	L	0.52905	1.665	0.48511	D	0.999667	D;D	0.59767	0.986;0.984	P;D	0.67382	0.839;0.951	D	0.85757	0.1347	10	0.38643	T	0.18	-17.7143	8.9394	0.35720	0.0:0.7702:0.0:0.2298	.	935;935	F8W8M9;O14795	.;UN13B_HUMAN	M	947;935;935;522	ENSP00000380006:I947M;ENSP00000367756:I935M;ENSP00000367757:I935M	ENSP00000367756:I935M	I	+	3	3	UNC13B	35376248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.354000	0.34056	1.105000	0.41606	0.655000	0.94253	ATC	-	pfam_Ca-dep_secretion_activator		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	protein_coding	OTTHUMT00000052296.1	C	NM_006377	-		35386248	1	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	SNP	1.000	G	G	35386248	C	G	35386248	3	3	120	1	0	0	0	0	1	0	0	0	16992	903	32	4	2895	4	UNC13B	9	35386248	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	22169065	35386248	105827183	49	8937											
SMC5	23137	genome.wustl.edu	37	chr9	72882851	72882851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttaggttgggttttttGtgaagagaggatgttctaga	14	2	2	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr9:72882851G>A	ENST00000361138.5	+	3	398	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	114					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						TGGGTTTTTTGTGAAGAGAGG	0.313																																																	0								ENSG00000198887						260	258	259					9																	72882851		2203	4300	6503	SMC5	SO:0001583	missense	0			-	HGNC	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.340G>A	9.37:g.72882851G>A	ENSP00000354957:p.Val114Met	Somatic	0	125	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	71	31.07	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP							pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.V114M	ENST00000361138.5	37	c.340	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747057	0.89663	.	.	ENSG00000198887	ENST00000361138	T	0.70986	-0.53	5.8	5.8	0.92144	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87310	0.2311	10	0.87932	D	0	-14.1397	20.0493	0.97618	0.0:0.0:1.0:0.0	.	114	Q8IY18	SMC5_HUMAN	M	114	ENSP00000354957:V114M	ENSP00000354957:V114M	V	+	1	0	SMC5	72072671	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.053000	0.93860	2.745000	0.94114	0.491000	0.48974	GTG	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.313	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	protein_coding	OTTHUMT00000052603.1	G	NM_015110	-		72882851	1	no_errors	ENST00000361138	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72882851	G	A	72882851	3	1	120	1	0	0	0	0	1	0	0	0	14794	1377	48	2	350	2	SMC5	9	72882851	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	37496603	72882851	68330580	50	8938											
DAPK1	1612	genome.wustl.edu	37	chr9	90283512	90283512	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgcatttttctccaacagGacggaaagacggcagaagat	10	8	1	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr9:90283512G>A	ENST00000408954.3	+	19	2259	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	DAPK1_ENST00000472284.1_Splice_Site_p.D642N|DAPK1_ENST00000469640.2_Splice_Site_p.D642N|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Splice_Site_p.D642N|DAPK1_ENST00000491893.1_Splice_Site_p.D642N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	642					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCCAACAGGACGGAAAGAC	0.468									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								ENSG00000196730						234	237	236					9																	90283512		1955	4150	6105	DAPK1	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial CLL	-	HGNC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1924-1G>A	9.37:g.90283512G>A		Somatic	0	43	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.D642N	ENST00000408954.3	37	c.1924	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847569	0.51164	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	4.73	4.73	0.59995	Ankyrin repeat-containing domain (3);	0.000000	0.48767	D	0.000168	T	0.33089	0.0851	L	0.55481	1.735	0.58432	D	0.999999	P;P;D	0.58268	0.679;0.913;0.982	B;P;P	0.59825	0.371;0.864;0.528	T	0.02202	-1.1196	10	0.66056	D	0.02	.	15.0605	0.71947	0.0:0.0:1.0:0.0	.	642;196;642	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	N	642	ENSP00000350785:D642N;ENSP00000417076:D642N;ENSP00000418885:D642N;ENSP00000386135:D642N;ENSP00000419026:D642N	ENSP00000350785:D642N	D	+	1	0	DAPK1	89473332	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	5.697000	0.68295	2.601000	0.87937	0.491000	0.48974	GAC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.468	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	G	NM_004938	-	Missense_Mutation	90283512	1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90283512	G	A	90283512	5	1	120	1	0	0	0	0	0	0	1	0	4237	1188	41	2	1994	2	DAPK1	9	90283512	Splice_Site	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	17400661	90283512	50929919	51	8939											
CEP110	11064	genome.wustl.edu	37	chr9	123912674	123912674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgctggggcccccatGgtgtatgggcctccaccccc	11	19	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr9:123912674G>A	ENST00000373855.1	+	25	4136	c.3876G>A	c.(3874-3876)atG>atA	p.M1292I	CNTRL_ENST00000238341.5_Missense_Mutation_p.M1292I|CNTRL_ENST00000373850.1_Missense_Mutation_p.M740I|CNTRL_ENST00000373847.1_Missense_Mutation_p.M740I			Q7Z7A1	CNTRL_HUMAN	centriolin	1292	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGGCCCCCATGGTGTATGGGC	0.567																																																	0								ENSG00000119397						91	83	86					9																	123912674		2203	4300	6503	CNTRL	SO:0001583	missense	0			-	HGNC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3876G>A	9.37:g.123912674G>A	ENSP00000362962:p.Met1292Ile	Somatic	0	58	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.M1292I	ENST00000373855.1	37	c.3876	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.096871	0.00364	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.71	-11.4	0.00090	.	.	.	.	.	T	0.05868	0.0153	N	0.00823	-1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16958	-1.0385	9	0.02654	T	1	.	8.7202	0.34436	0.0726:0.0782:0.2262:0.623	.	1292;1292	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	I	1292;1292;1292;48;774;740;740	ENSP00000362962:M1292I;ENSP00000238341:M1292I;ENSP00000362956:M740I;ENSP00000362953:M740I	ENSP00000238341:M1292I	M	+	3	0	CNTRL	122952495	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.368000	0.02580	-2.594000	0.00455	-1.352000	0.01234	ATG	-	NULL		0.567	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	protein_coding	OTTHUMT00000250216.1	G	NM_007018	-		123912674	1	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	SNP	0.000	A	A	123912674	G	A	123912674	3	1	120	1	0	0	0	0	1	0	0	0	3247	1348	47	2	3966	2	CEP110	9	123912674	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	33629162	123912674	17300757	52	8940											
ZNF37A	7587	genome.wustl.edu	37	chr10	38407196	38407196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagtcagtccttactgtgCatcagaaaacacacacaggg	8	10	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr10:38407196C>T	ENST00000361085.5	+	7	1462	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	ZNF37A_ENST00000351773.3_Missense_Mutation_p.H373Y	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	373					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(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CCTTACTGTGCATCAGAAAAC	0.418																																																	0								ENSG00000075407						75	77	77					10																	38407196		2203	4300	6503	ZNF37A	SO:0001583	missense	0			-	HGNC	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.1117C>T	10.37:g.38407196C>T	ENSP00000354377:p.His373Tyr	Somatic	0	65	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H373Y	ENST00000361085.5	37	c.1117	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333030	0.60853	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	D;D	0.86769	-2.17;-2.17	1.78	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94621	0.8266	H	0.96175	3.78	0.36464	D	0.866837	D	0.89917	1.0	D	0.91635	0.999	D	0.95302	0.8404	9	0.87932	D	0	.	9.5768	0.39463	0.0:1.0:0.0:0.0	.	373	P17032	ZN37A_HUMAN	Y	373	ENSP00000329141:H373Y;ENSP00000354377:H373Y	ENSP00000329141:H373Y	H	+	1	0	ZNF37A	38447202	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	5.891000	0.69782	1.313000	0.45069	0.591000	0.81541	CAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	protein_coding	OTTHUMT00000047624.2	C	NM_003421	-		38407196	1	no_errors	ENST00000351773	ensembl	human	known	74_37	missense	SNP	0.993	T	T	38407196	C	T	38407196	3	4	120	1	0	0	0	0	1	0	0	0	17879	710	25	2	1131	2	ZNF37A	10	38407196	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09		38407196	97127551	53	8941											
GRID1	2894	genome.wustl.edu	37	chr10	87482894	87482894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagttcacggaagattcGccacctgcgggaggcagaca	14	10	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr10:87482894G>A	ENST00000327946.7	-	12	1948	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	GRID1_ENST00000536331.1_Silent_p.G192G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	621					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						CGGAAGATTCGCCACCTGCGG	0.602										Multiple Myeloma(13;0.14)																																							0								ENSG00000182771						97	72	80					10																	87482894		2203	4300	6503	GRID1	SO:0001819	synonymous_variant	0			-	HGNC	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.1863C>T	10.37:g.87482894G>A		Somatic	0	36	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G621	ENST00000327946.7	37	c.1863	CCDS31236.1	10																																																																																			-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	G	XM_043613	-		87482894	-1	no_errors	ENST00000327946	ensembl	human	known	74_37	silent	SNP	0.000	A	A	87482894	G	A	87482894	2	1	120	1	0	0	0	0	0	0	0	1	6773	1074	38	1		1	GRID1	10	87482894	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	49075698	87482894	48051853	54	8942											
MKI67	4288	genome.wustl.edu	37	chr10	129901119	129901119	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgccacctcccctcttgaaGggcagtgggggcagggaagt	15	11	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr10:129901119G>C	ENST00000368654.3	-	13	9360	c.8985C>G	c.(8983-8985)ccC>ccG	p.P2995P	MKI67_ENST00000368653.3_Silent_p.P2635P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2995					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCCTCTTGAAGGGCAGTGGGG	0.567																																																	0								ENSG00000148773						89	80	83					10																	129901119		2203	4300	6503	MKI67	SO:0001819	synonymous_variant	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8985C>G	10.37:g.129901119G>C		Somatic	0	80	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	Q5VWH2	Silent	SNP							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P2995	ENST00000368654.3	37	c.8985	CCDS7659.1	10																																																																																			-	NULL		0.567	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129901119	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	silent	SNP	0.012	C	C	129901119	G	C	129901119	2	2	120	1	0	0	0	0	0	0	0	1	9600	987	35	4		4	MKI67	10	129901119	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	42418225	129901119	5633628	55	8943											
OR51D1	390038	genome.wustl.edu	37	chr11	4661029	4661029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggattttgtatgcagaaGccccagctcttggtccctat	9	12	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:4661029G>T	ENST00000357605.2	+	1	85	c.9G>T	c.(7-9)aaG>aaT	p.K3N		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTATGCAGAAGCCCCAGCTCT	0.473																																																	0								ENSG00000197428						133	130	131					11																	4661029		2201	4298	6499	OR51D1	SO:0001583	missense	0			-	HGNC	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.9G>T	11.37:g.4661029G>T	ENSP00000350222:p.Lys3Asn	Somatic	0	62	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	B9EIK4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K3N	ENST00000357605.2	37	c.9	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	G	6.067	0.380746	0.11466	.	.	ENSG00000197428	ENST00000357605	T	0.00006	9.74	4.31	-0.0754	0.13727	.	0.564619	0.15074	N	0.282046	T	0.00039	0.0001	N	0.08118	0	0.09310	N	0.999999	P	0.41313	0.745	B	0.38803	0.282	T	0.00231	-1.1896	10	0.56958	D	0.05	.	2.8081	0.05433	0.3515:0.0:0.4465:0.2019	.	3	Q8NGF3	O51D1_HUMAN	N	3	ENSP00000350222:K3N	ENSP00000350222:K3N	K	+	3	2	OR51D1	4617605	0.000000	0.05858	0.255000	0.24374	0.170000	0.22686	-0.567000	0.05916	0.180000	0.19960	-0.259000	0.10710	AAG	-	NULL		0.473	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	protein_coding	OTTHUMT00000385956.1	G	NM_001004751	-		4661029	1	no_errors	ENST00000357605	ensembl	human	known	74_37	missense	SNP	0.067	T	T	4661029	G	T	4661029	3	4	120	1	0	0	0	0	1	0	0	0	11095	962	34	3	11	3	OR51D1	11	4661029	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		4661029	130345487	56	8944											
OR51F1	256892	genome.wustl.edu	37	chr11	4790430	4790430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggagacacaggtgctgaAgaccttgtgccattcttcag	12	9	2	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:4790430A>G	ENST00000380383.1	-	1	738	c.739T>C	c.(739-741)Ttc>Ctc	p.F247L	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.F240L|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGGTGCTGAAGACCTTGTGC	0.493																																																	0								ENSG00000188069						110	100	103					11																	4790430		2201	4298	6499	OR51F1	SO:0001583	missense	0			-	HGNC	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.739T>C	11.37:g.4790430A>G	ENSP00000369744:p.Phe247Leu	Somatic	0	71	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F247L	ENST00000380383.1	37	c.739		11	.	.	.	.	.	.	.	.	.	.	A	3.087	-0.187782	0.06299	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00269	8.37;8.37	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00144	0.0004	N	0.13235	0.315	0.27264	N	0.958553	B	0.25486	0.127	B	0.34590	0.186	T	0.35226	-0.9797	10	0.02654	T	1	.	14.0937	0.65006	1.0:0.0:0.0:0.0	.	247	A6NGY5	O51F1_HUMAN	L	240;247	ENSP00000345163:F240L;ENSP00000369744:F247L	ENSP00000345163:F240L	F	-	1	0	OR51F1	4747006	0.005000	0.15991	0.483000	0.27378	0.872000	0.50106	0.139000	0.16036	2.202000	0.70862	0.533000	0.62120	TTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.493	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	protein_coding		A	NM_001004752	-		4790430	-1	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	SNP	0.829	G	G	4790430	A	G	4790430	3	3	120	1	0	0	0	0	1	0	0	0	11098	72	3	5	223	5	OR51F1	11	4790430	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	129401	4790430	130216086	57	8945											
NUP160	23279	genome.wustl.edu	37	chr11	47858526	47858526	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgaacagcaagactgagGggacgatctgaaggcgactg	14	8	1	4			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:47858526G>T	ENST00000378460.2	-	6	901	c.855C>A	c.(853-855)ccC>ccA	p.P285P	NUP160_ENST00000528071.1_Silent_p.P171P|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Silent_p.P171P	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	285					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAGACTGAGGGGACGATCTG	0.413																																																	0								ENSG00000030066						170	146	154					11																	47858526		2201	4298	6499	NUP160	SO:0001819	synonymous_variant	0			-	HGNC	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.855C>A	11.37:g.47858526G>T		Somatic	0	63	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP							pfam_Nucleoporin_Nup160	p.P285	ENST00000378460.2	37	c.855	CCDS31484.1	11																																																																																			-	pfam_Nucleoporin_Nup160		0.413	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	protein_coding	OTTHUMT00000390239.2	G	NM_015231	-		47858526	-1	no_errors	ENST00000378460	ensembl	human	known	74_37	silent	SNP	0.839	T	T	47858526	G	T	47858526	2	4	120	1	0	0	0	0	0	0	0	1	10759	1219	43	3		3	NUP160	11	47858526	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	43068096	47858526	87147990	58	8946											
DTX4	23220	genome.wustl.edu	37	chr11	58958586	58958586	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacctcctgtctctgcaGgtaaaaccccagaggaagtg	10	12	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:58958586G>T	ENST00000227451.3	+	5	1263		c.e5-1		DTX4_ENST00000531902.1_Splice_Site|DTX4_ENST00000532982.1_Splice_Site	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase						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)				TGTCTCTGCAGGTAAAACCCC	0.507																																																	0								ENSG00000110042						36	35	35					11																	58958586		1886	4098	5984	DTX4	SO:0001630	splice_region_variant	0			-	HGNC	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.1160-1G>T	11.37:g.58958586G>T		Somatic	0	42	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q0VF38	Splice_Site	SNP							-	e5-1	ENST00000227451.3	37	c.1160-1	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945005	0.73672	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1191	0.89565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DTX4	58715162	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.753000	0.98904	2.583000	0.87209	0.563000	0.77884	.	-	-		0.507	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	protein_coding	OTTHUMT00000394228.1	G	XM_166213	-	Intron	58958586	1	no_errors	ENST00000227451	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	58958586	G	T	58958586	5	4	120	1	0	0	0	0	0	0	1	0	4799	1014	35	3	1177	3	DTX4	11	58958586	Splice_Site	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	11100060	58958586	76047930	59	8947											
CPSF7	79869	genome.wustl.edu	37	chr11	61183991	61183991	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgggcccgtggaggtattCctatgaagcaaaacagaact	11	8	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:61183991C>A	ENST00000394888.4	-	6	723	c.551G>T	c.(550-552)gGa>gTa	p.G184V	CPSF7_ENST00000448745.1_Splice_Site_p.R175L|CPSF7_ENST00000439958.3_Splice_Site_p.R175L|CPSF7_ENST00000340437.4_Splice_Site_p.G227V	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	184					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TGGAGGTATTCCTATGAAGCA	0.498																																																	0								ENSG00000149532						58	59	59					11																	61183991		2202	4299	6501	CPSF7	SO:0001630	splice_region_variant	0			-	HGNC		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.551-1G>T	11.37:g.61183991C>A		Somatic	0	40	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G227V	ENST00000394888.4	37	c.680	CCDS44619.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.145419|4.145419	0.77888|0.77888	.|.	.|.	ENSG00000149532|ENSG00000149532	ENST00000340437;ENST00000394888|ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232	.|T;T;T;T;T;T	.|0.75589	.|-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.51477|.	D|.	0.000089|.	T|T	0.80407|0.80407	0.4617|0.4617	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;D|P;D	0.89917|0.54772	0.994;1.0|0.947;0.968	D;D|P;D	0.87578|0.72625	0.953;0.998|0.788;0.978	T|T	0.80830|0.80830	-0.1207|-0.1207	9|9	0.34782|0.62326	T|D	0.22|0.03	.|.	12.8951|12.8951	0.58095|0.58095	0.0:0.9254:0.0:0.0746|0.0:0.9254:0.0:0.0746	.|.	184;227|175;175	Q8N684;Q8N684-3|B4DGF8;Q8N684-2	CPSF7_HUMAN;.|.;.	V|L	227;184|175	.|ENSP00000397203:R175L;ENSP00000407394:R175L;ENSP00000437860:R175L;ENSP00000438381:R175L;ENSP00000437531:R175L;ENSP00000393828:R175L	ENSP00000345412:G227V|ENSP00000393828:R175L	G|R	-|-	2|2	0|0	CPSF7|CPSF7	60940567|60940567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	3.843000|3.843000	0.55865|0.55865	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GGA|CGA	-	NULL		0.498	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	protein_coding	OTTHUMT00000347835.2	C	NM_024811	-	Missense_Mutation	61183991	-1	no_errors	ENST00000340437	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61183991	C	A	61183991	5	1	120	1	0	0	0	0	0	0	1	0	3832	869	30	3	880	3	CPSF7	11	61183991	Splice_Site	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	2225405	61183991	73822525	60	8948											
SCYL1	57410	genome.wustl.edu	37	chr11	65305961	65305961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgcgaggagcggcggcGggagatggaggccaaacgcg	21	9	0	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:65305961G>A	ENST00000270176.5	+	18	2428	c.2351G>A	c.(2350-2352)cGg>cAg	p.R784Q	SCYL1_ENST00000527009.1_Missense_Mutation_p.R641Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.R767Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.G765R|SCYL1_ENST00000524944.1_3'UTR|SCYL1_ENST00000279270.6_Missense_Mutation_p.G766R|SCYL1_ENST00000534462.1_3'UTR|SCYL1_ENST00000533862.1_Missense_Mutation_p.G772R	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	784					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GAGCGGCGGCGGGAGATGGAG	0.701																																																	0								ENSG00000142186						11	21	18					11																	65305961		1976	4139	6115	SCYL1	SO:0001583	missense	0			-	HGNC	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.2351G>A	11.37:g.65305961G>A	ENSP00000270176:p.Arg784Gln	Somatic	0	9	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.R784Q	ENST00000270176.5	37	c.2351	CCDS41672.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.213767|3.213767	0.58452|0.58452	.|.	.|.	ENSG00000142186|ENSG00000142186	ENST00000525364;ENST00000533862;ENST00000279270|ENST00000270176;ENST00000420247;ENST00000527630;ENST00000349495;ENST00000527009;ENST00000528545	T;T;T|T;T;T;T;T	0.07327|0.33216	3.2;3.68;3.2|3.16;2.98;2.78;2.17;1.42	4.82|4.82	1.81|1.81	0.25067|0.25067	.|.	.|0.256921	.|0.35235	.|N	.|0.003360	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.40543|0.40543	1.245|1.245	0.20403|0.20403	N|N	0.999905|0.999905	B;B|B;B	0.15930|0.31459	0.015;0.007|0.324;0.057	B;B|B;B	0.12837|0.24269	0.008;0.002|0.052;0.009	T|T	0.08027|0.08027	-1.0742|-1.0742	9|10	0.66056|0.25106	D|T	0.02|0.35	-26.6623|-26.6623	3.5856|3.5856	0.07970|0.07970	0.2439:0.0:0.5594:0.1967|0.2439:0.0:0.5594:0.1967	.|.	766;772|767;784	Q96KG9-4;Q96KG9-6|Q96KG9-2;Q96KG9	.;.|.;NTKL_HUMAN	R|Q	765;772;766|784;767;683;683;641;256	ENSP00000431635:G765R;ENSP00000437254:G772R;ENSP00000279270:G766R|ENSP00000270176:R784Q;ENSP00000408192:R767Q;ENSP00000433450:R683Q;ENSP00000436993:R641Q;ENSP00000433604:R256Q	ENSP00000279270:G766R|ENSP00000270176:R784Q	G|R	+|+	1|2	0|0	SCYL1|SCYL1	65062537|65062537	1.000000|1.000000	0.71417|0.71417	0.614000|0.614000	0.29051|0.29051	0.993000|0.993000	0.82548|0.82548	2.993000|2.993000	0.49425|0.49425	1.009000|1.009000	0.39289|0.39289	0.462000|0.462000	0.41574|0.41574	GGG|CGG	-	NULL		0.701	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	protein_coding	OTTHUMT00000389159.2	G	NM_020680	-		65305961	1	no_errors	ENST00000270176	ensembl	human	known	74_37	missense	SNP	0.840	A	A	65305961	G	A	65305961	3	1	120	1	0	0	0	0	1	0	0	0	13955	1116	39	1	2421	1	SCYL1	11	65305961	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	4121970	65305961	69700555	61	8949											
PPFIA1	8500	genome.wustl.edu	37	chr11	70189796	70189796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacaaactcttaatgagcagGattgggaacgtgcccagcaa	10	9	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr11:70189796G>T	ENST00000253925.7	+	15	1944	c.1729G>T	c.(1729-1731)Gat>Tat	p.D577Y	PPFIA1_ENST00000389547.3_Missense_Mutation_p.D577Y|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	577					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TAATGAGCAGGATTGGGAACG	0.403																																																	0								ENSG00000131626						93	75	81					11																	70189796		2200	4294	6494	PPFIA1	SO:0001583	missense	0			-	HGNC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1729G>T	11.37:g.70189796G>T	ENSP00000253925:p.Asp577Tyr	Somatic	0	43	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D577Y	ENST00000253925.7	37	c.1729	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907134	0.92107	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.50813	0.73;0.73	5.3	5.3	0.74995	.	0.063084	0.64402	D	0.000008	T	0.68265	0.2982	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.76494	0.993;0.999	P;D	0.65987	0.873;0.94	T	0.71928	-0.4444	10	0.87932	D	0	.	18.9692	0.92708	0.0:0.0:1.0:0.0	.	577;577	Q13136;Q13136-2	LIPA1_HUMAN;.	Y	577;577;64	ENSP00000253925:D577Y;ENSP00000374198:D577Y	ENSP00000253925:D577Y	D	+	1	0	PPFIA1	69867444	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.577000	0.98196	2.484000	0.83849	0.561000	0.74099	GAT	-	NULL		0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	protein_coding	OTTHUMT00000393905.1	G	NM_003626	-		70189796	1	no_errors	ENST00000253925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70189796	G	T	70189796	3	4	120	1	0	0	0	0	1	0	0	0	12311	1174	41	3	1783	3	PPFIA1	11	70189796	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	4883835	70189796	64816720	62	8950											
GSG1	57613	genome.wustl.edu	37	chr12	13237900	13237900	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcctggctggcccctctttGaaatcccttgttccgcagct	8	16	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:13237900G>T	ENST00000197268.8	+	0	4808				GSG1_ENST00000351606.6_3'UTR|GSG1_ENST00000337630.6_Missense_Mutation_p.Q306K|GSG1_ENST00000324458.8_Missense_Mutation_p.Q342K|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000537302.1_Missense_Mutation_p.Q278K|GSG1_ENST00000396310.2_Missense_Mutation_p.Q275K|GSG1_ENST00000432710.2_Missense_Mutation_p.Q319K|GSG1_ENST00000457134.2_Missense_Mutation_p.Q255K	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCCCTCTTTGAAATCCCTTG	0.532																																																	0								ENSG00000111305						89	97	94					12																	13237900		1285	2302	3587	GSG1	SO:0001628	intergenic_variant	0			-	HGNC	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67			12.37:g.13237900G>T		Somatic	0	70	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	69	25.00	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP							pfam_GSG-1	p.Q342K	ENST00000197268.8	37	c.1024	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	G	4.796	0.148031	0.09134	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000405543	T;T;T;T;T;T	0.30714	1.56;1.54;1.52;1.52;1.55;1.52	5.38	4.48	0.54585	.	1.006700	0.08003	U	0.989100	T	0.32734	0.0839	M	0.67953	2.075	0.09310	N	1	B;B;B;B;B	0.32188	0.359;0.075;0.004;0.004;0.075	B;B;B;B;B	0.29716	0.106;0.03;0.005;0.005;0.049	T	0.17961	-1.0352	10	0.23302	T	0.38	.	10.7423	0.46160	0.146:0.0:0.854:0.0	.	319;329;255;278;306	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1	.;GSG1_HUMAN;.;.;.	K	306;342;275;255;319;278;320	ENSP00000336816:Q306K;ENSP00000320838:Q342K;ENSP00000379604:Q275K;ENSP00000398384:Q255K;ENSP00000405032:Q319K;ENSP00000441718:Q278K	ENSP00000320838:Q342K	Q	-	1	0	GSG1	13129167	0.957000	0.32711	0.006000	0.13384	0.017000	0.09413	4.664000	0.61540	2.524000	0.85096	0.561000	0.74099	CAA	-	NULL		0.532	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1	protein_coding	OTTHUMT00000401007.1	G	NM_020853	-		13237900	-1	no_errors	ENST00000324458	ensembl	human	known	74_37	missense	SNP	0.001	T	T	13237900	G	T	13237900	1	4	120	0	1	0	0	0	0	0	0	0	6822	1299	45	3		3	GSG1	12	13237900	IGR	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		13237900	120613995	63	8951											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18649044	18649044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccattgaagattactttcAtcaatgctaatccgatgggc	8	9	2	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:18649044A>G	ENST00000266497.5	+	19	2757	c.2719A>G	c.(2719-2721)Atc>Gtc	p.I907V	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.I907V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I948V			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	907					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATTACTTTCATCAATGCTAA	0.333																																																	0								ENSG00000139144						109	95	99					12																	18649044		1821	4072	5893	PIK3C2G	SO:0001583	missense	0			-	HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2719A>G	12.37:g.18649044A>G	ENSP00000266497:p.Ile907Val	Somatic	0	59	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	63	21.25	A1L3U0	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.I948V	ENST00000266497.5	37	c.2842	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	3.858	-0.030521	0.07543	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.80738	-1.41;-1.41;-1.41	4.47	0.677	0.17964	Protein kinase-like domain (1);	0.202582	0.40469	N	0.001093	T	0.67059	0.2853	L	0.27053	0.805	0.34306	D	0.684946	P;P;P	0.45283	0.773;0.855;0.773	B;P;B	0.47915	0.358;0.561;0.358	T	0.65134	-0.6242	10	0.21014	T	0.42	-2.9402	2.593	0.04847	0.4816:0.2967:0.0791:0.1425	.	947;948;907	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	V	907;907;948	ENSP00000404845:I907V;ENSP00000266497:I907V;ENSP00000445381:I948V	ENSP00000266497:I907V	I	+	1	0	PIK3C2G	18540311	0.005000	0.15991	0.999000	0.59377	0.997000	0.91878	-0.547000	0.06055	0.102000	0.17638	0.528000	0.53228	ATC	-	superfamily_Kinase-like_dom		0.333	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	A	NM_004570	-		18649044	1	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	SNP	0.987	G	G	18649044	A	G	18649044	3	3	120	1	0	0	0	0	1	0	0	0	11913	217	8	5	2793	5	PIK3C2G	12	18649044	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	5411144	18649044	115202851	64	8952											
GOLT1B	51026	genome.wustl.edu	37	chr12	21661451	21661451	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtccttattggttggcctttGataggcatgatcttcgaaat	10	7	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:21661451G>C	ENST00000229314.5	+	3	361	c.252G>C	c.(250-252)ttG>ttC	p.L84F	GOLT1B_ENST00000542038.1_Missense_Mutation_p.L20F|GOLT1B_ENST00000540141.1_Missense_Mutation_p.L84F|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	84	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	signal transducer activity (GO:0004871)			large_intestine(2)|lung(3)	5						GTTGGCCTTTGATAGGCATGA	0.333																																																	0								ENSG00000111711						114	113	113					12																	21661451		2203	4299	6502	GOLT1B	SO:0001583	missense	0			-	HGNC	AB097020	CCDS8689.1	12p13.1	2010-06-24	2010-06-24		ENSG00000111711	ENSG00000111711			20175	protein-coding gene	gene with protein product		615078	"golgi transport 1 homolog B (S. cerevisiae)"			12414650, 10810093	Standard	NM_016072		Approved	CGI-141, YMR292W, GOT1	uc001rez.2	Q9Y3E0	OTTHUMG00000169133	ENST00000229314.5:c.252G>C	12.37:g.21661451G>C	ENSP00000229314:p.Leu84Phe	Somatic	0	99	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	112	9.68	B2R4R4|Q54A40|Q6I9W6|Q9P1R9	Missense_Mutation	SNP							pfam_Vesicle_transpt_Got1/SFT2	p.L84F	ENST00000229314.5	37	c.252	CCDS8689.1	12	.	.	.	.	.	.	.	.	.	.	G	9.120	1.008814	0.19199	.	.	ENSG00000111711	ENST00000542038;ENST00000540141;ENST00000229314	.	.	.	5.9	5.9	0.94986	.	0.066487	0.64402	D	0.000017	T	0.38558	0.1045	N	0.21448	0.665	0.44816	D	0.997827	B	0.06786	0.001	B	0.11329	0.006	T	0.30031	-0.9992	9	0.19147	T	0.46	-4.1732	6.9293	0.24432	0.1086:0.1744:0.7169:0.0	.	84	Q9Y3E0	GOT1B_HUMAN	F	20;84;84	.	ENSP00000229314:L84F	L	+	3	2	GOLT1B	21552718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.986000	0.29590	2.788000	0.95919	0.650000	0.86243	TTG	-	pfam_Vesicle_transpt_Got1/SFT2		0.333	GOLT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLT1B	protein_coding	OTTHUMT00000402384.2	G	NM_016072	-		21661451	1	no_errors	ENST00000229314	ensembl	human	known	74_37	missense	SNP	1.000	C	C	21661451	G	C	21661451	3	2	120	1	0	0	0	0	1	0	0	0	6573	1281	45	4	262	4	GOLT1B	12	21661451	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	3012407	21661451	112190444	65	8953											
OR6C75	390323	genome.wustl.edu	37	chr12	55759298	55759298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattacacaatcatcatgaGcaccagagtgtgtacccttc	6	12	3	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:55759298G>T	ENST00000343399.3	+	1	404	c.404G>T	c.(403-405)aGc>aTc	p.S135I		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATCATCATGAGCACCAGAGTG	0.478																																																	0								ENSG00000187857						172	143	152					12																	55759298		2203	4300	6503	OR6C75	SO:0001583	missense	0			-	HGNC		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.404G>T	12.37:g.55759298G>T	ENSP00000368987:p.Ser135Ile	Somatic	0	31	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S135I	ENST00000343399.3	37	c.404	CCDS31820.1	12	.	.	.	.	.	.	.	.	.	.	g	9.162	1.018850	0.19355	.	.	ENSG00000187857	ENST00000343399	T	0.00420	7.47	5.25	-1.01	0.10169	GPCR, rhodopsin-like superfamily (1);	0.105599	0.41294	D	0.000917	T	0.01061	0.0035	H	0.94771	3.58	0.09310	N	0.999999	P	0.45715	0.865	P	0.51701	0.677	T	0.10520	-1.0626	10	0.87932	D	0	.	12.5242	0.56077	0.3779:0.0:0.6221:0.0	.	135	A6NL08	O6C75_HUMAN	I	135	ENSP00000368987:S135I	ENSP00000368987:S135I	S	+	2	0	OR6C75	54045565	0.000000	0.05858	0.019000	0.16419	0.090000	0.18270	-1.067000	0.03451	-0.342000	0.08363	-1.824000	0.00597	AGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.478	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	protein_coding	OTTHUMT00000406418.1	G		-		55759298	1	no_errors	ENST00000343399	ensembl	human	known	74_37	missense	SNP	0.017	T	T	55759298	G	T	55759298	3	4	120	1	0	0	0	0	1	0	0	0	11201	971	34	3	406	3	OR6C75	12	55759298	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	34097847	55759298	78092597	66	8954											
PPP1R12A	4659	genome.wustl.edu	37	chr12	80199528	80199528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcagtactatcctcaGcccacaaacgatttgaggta	6	12	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:80199528G>A	ENST00000450142.2	-	14	2110	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.A615V|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.A615V|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.A528V|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.A559V|AC073569.1_ENST00000598624.1_Intron	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	615	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ACTATCCTCAGCCCACAAACG	0.423																																																	0								ENSG00000058272						111	103	106					12																	80199528		2025	4180	6205	PPP1R12A	SO:0001583	missense	0			-	HGNC	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1844C>T	12.37:g.80199528G>A	ENSP00000389168:p.Ala615Val	Somatic	0	48	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP							pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A615V	ENST00000450142.2	37	c.1844	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307082	0.81247	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	T;T;T;T;T	0.38887	1.17;1.17;1.18;1.19;1.11	5.54	5.54	0.83059	.	0.108661	0.64402	D	0.000005	T	0.60766	0.2294	L	0.50333	1.59	0.58432	D	0.999997	D;D;P	0.67145	0.965;0.996;0.941	P;D;P	0.70935	0.655;0.971;0.453	T	0.59963	-0.7355	10	0.54805	T	0.06	.	19.4766	0.94991	0.0:0.0:1.0:0.0	.	615;559;615	O14974-2;O14974-3;O14974	.;.;MYPT1_HUMAN	V	615;615;615;559;615;615;528;559	ENSP00000261207:A615V;ENSP00000389168:A615V;ENSP00000416769:A615V;ENSP00000449514:A528V;ENSP00000446855:A559V	ENSP00000261207:A615V	A	-	2	0	PPP1R12A	78723659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.121000	0.89582	2.585000	0.87301	0.591000	0.81541	GCT	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.423	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	protein_coding	OTTHUMT00000407254.2	G	NM_002480	-		80199528	-1	no_errors	ENST00000261207	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80199528	G	A	80199528	3	1	120	1	0	0	0	0	1	0	0	0	12359	971	34	2	1296	2	PPP1R12A	12	80199528	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	24440230	80199528	53652367	67	8955											
IQCD	115811	genome.wustl.edu	37	chr12	113645711	113645711	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctctctcactgccctcatGacgtcctcccccagcatccc	5	21	3	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:113645711G>T	ENST00000416617.2	-	2	451	c.261C>A	c.(259-261)gtC>gtA	p.V87V	IQCD_ENST00000546692.1_Silent_p.V87V|IQCD_ENST00000299732.2_Silent_p.V87V			Q96DY2	IQCD_HUMAN	IQ motif containing D	87										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGCCCTCATGACGTCCTCCC	0.542																																																	0								ENSG00000166578						191	157	169					12																	113645711		2203	4300	6503	IQCD	SO:0001819	synonymous_variant	0			-	HGNC	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.261C>A	12.37:g.113645711G>T		Somatic	0	48	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q6ZSU0	Silent	SNP							pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.V87	ENST00000416617.2	37	c.261		12																																																																																			-	NULL		0.542	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	protein_coding	OTTHUMT00000405327.1	G	NM_138451	-		113645711	-1	no_errors	ENST00000416617	ensembl	human	known	74_37	silent	SNP	0.000	T	T	113645711	G	T	113645711	2	4	120	1	0	0	0	0	0	0	0	1	7807	1277	45	3		3	IQCD	12	113645711	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	33446183	113645711	20206184	68	8956											
SLC24A6	80024	genome.wustl.edu	37	chr12	113753242	113753242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatccttgtccgggtccaCgacggggactgtgaggagca	15	11	1	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr12:113753242C>T	ENST00000552014.1	-	12	1548	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.V345M|SLC8B1_ENST00000546737.1_Missense_Mutation_p.V289M			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	345					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TCCGGGTCCACGACGGGGACT	0.617																																																	0								ENSG00000089060						65	59	61					12																	113753242		2203	4299	6502	SLC8B1	SO:0001583	missense	0			-	HGNC	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1033G>A	12.37:g.113753242C>T	ENSP00000447091:p.Val345Met	Somatic	0	35	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP							pfam_NaCa_Exmemb	p.V345M	ENST00000552014.1	37	c.1033	CCDS31909.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702135	0.48307	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63096	0.01;0.01;-0.02	4.78	2.96	0.34315	.	0.151319	0.43579	N	0.000552	T	0.53094	0.1775	L	0.48877	1.53	0.58432	D	0.999998	P;P	0.47762	0.9;0.78	B;B	0.41135	0.348;0.21	T	0.51411	-0.8709	10	0.48119	T	0.1	.	10.7999	0.46483	0.0:0.8473:0.0:0.1527	.	345;50	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	M	345;345;289;289	ENSP00000447091:V345M;ENSP00000202831:V345M;ENSP00000450081:V289M	ENSP00000202831:V345M	V	-	1	0	SLC24A6	112237625	0.992000	0.36948	0.577000	0.28562	0.818000	0.46254	2.954000	0.49113	0.471000	0.27319	0.456000	0.33151	GTG	-	NULL		0.617	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC8B1	protein_coding	OTTHUMT00000404830.3	C	NM_024959	-		113753242	-1	no_errors	ENST00000202831	ensembl	human	known	74_37	missense	SNP	0.983	T	T	113753242	C	T	113753242	3	4	120	1	0	0	0	0	1	0	0	0	14478	536	19	1	745	1	SLC24A6	12	113753242	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	107531	113753242	20098653	69	8957											
CDX2	1045	genome.wustl.edu	37	chr13	28542874	28542874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggccgtgagccacggcGttggcggcggccgcggcgcc	19	14	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr13:28542874G>C	ENST00000381020.7	-	1	2402	c.270C>G	c.(268-270)aaC>aaG	p.N90K	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	90	Poly-Ala.				anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GAGCCACGGCGTTggcggcgg	0.751			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0								ENSG00000165556						14	19	17					13																	28542874		1717	3285	5002	CDX2	SO:0001583	missense	0			-	HGNC	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.270C>G	13.37:g.28542874G>C	ENSP00000370408:p.Asn90Lys	Somatic	0	15	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	3	62.50	O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP							pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.N90K	ENST00000381020.7	37	c.270	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	G	9.032	0.987600	0.18966	.	.	ENSG00000165556	ENST00000381020	T	0.40756	1.02	4.39	1.42	0.22433	Caudal-like activation domain (1);	0.595395	0.15865	N	0.240813	T	0.26557	0.0649	L	0.29908	0.895	0.20196	N	0.99993	P	0.44380	0.834	B	0.43916	0.436	T	0.14783	-1.0460	10	0.05721	T	0.95	-26.7989	7.3941	0.26926	0.3354:0.0:0.6646:0.0	.	90	Q99626	CDX2_HUMAN	K	90	ENSP00000370408:N90K	ENSP00000370408:N90K	N	-	3	2	CDX2	27440874	0.014000	0.17966	0.998000	0.56505	0.658000	0.38924	0.565000	0.23578	0.485000	0.27652	0.407000	0.27541	AAC	-	pfam_Caudal_activation_dom		0.751	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	protein_coding	OTTHUMT00000044312.5	G		-		28542874	-1	no_errors	ENST00000381020	ensembl	human	known	74_37	missense	SNP	0.875	C	C	28542874	G	C	28542874	3	2	120	1	0	0	0	0	1	0	0	0	3185	1136	40	4	683	4	CDX2	13	28542874	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		28542874	86627004	70	8958											
KCNK13	56659	genome.wustl.edu	37	chr14	90651110	90651110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatctccatagagacagaCggggtggcagagagtgacac	13	9	1	4	rs139112374		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr14:90651110C>T	ENST00000282146.4	+	2	1431	c.990C>T	c.(988-990)gaC>gaT	p.D330D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	330					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)				TAGAGACAGACGGGGTGGCAG	0.622																																																	0								ENSG00000152315	C		1,4405	2.1+/-5.4	0,1,2202	62	64	63		990	-6.9	0.1	14	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	KCNK13	NM_022054.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		330/409	90651110	1,13005	2203	4300	6503	KCNK13	SO:0001819	synonymous_variant	0			-	HGNC	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.990C>T	14.37:g.90651110C>T		Somatic	0	87	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	57	36.67	B5TJL8|Q96E79	Silent	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.D330	ENST00000282146.4	37	c.990	CCDS9889.1	14																																																																																			-	NULL		0.622	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	protein_coding	OTTHUMT00000411251.1	C	NM_022054	rs139112374		90651110	1	no_errors	ENST00000282146	ensembl	human	known	74_37	silent	SNP	0.129	T	T	90651110	C	T	90651110	2	4	120	1	0	0	0	0	0	0	0	1	8063	535	19	1		1	KCNK13	14	90651110	Silent	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09		90651110	16698430	71	8959											
HSP90AA1	3320	genome.wustl.edu	37	chr14	102549597	102549597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaagccatgtttccgaagaCgttccacaaaggctgagtta	9	10	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr14:102549597C>A	ENST00000216281.8	-	9	1734	c.1529G>T	c.(1528-1530)cGt>cTt	p.R510L	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R331L|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.R632L	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	510					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TTTCCGAAGACGTTCCACAAA	0.413																																																	0								ENSG00000080824						130	124	126					14																	102549597		2203	4300	6503	HSP90AA1	SO:0001583	missense	0			-	HGNC	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1529G>T	14.37:g.102549597C>A	ENSP00000216281:p.Arg510Leu	Somatic	0	91	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	96	12.73	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP							pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.R632L	ENST00000216281.8	37	c.1895	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	c	28.7	4.946614	0.92593	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.10382	2.88;2.88;2.88	4.44	4.44	0.53790	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	U	0.000000	T	0.24851	0.0603	M	0.78049	2.395	0.80722	D	1	P;P;P	0.48350	0.909;0.459;0.788	P;B;B	0.48901	0.594;0.107;0.41	T	0.10042	-1.0647	10	0.72032	D	0.01	-14.5992	17.4478	0.87583	0.0:1.0:0.0:0.0	.	331;632;510	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	L	510;632;331	ENSP00000216281:R510L;ENSP00000335153:R632L;ENSP00000396189:R331L	ENSP00000216281:R510L	R	-	2	0	HSP90AA1	101619350	1.000000	0.71417	0.902000	0.35471	0.994000	0.84299	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	CGT	-	pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold		0.413	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	protein_coding	OTTHUMT00000414952.2	C	NM_005348	-		102549597	-1	no_errors	ENST00000334701	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102549597	C	A	102549597	3	1	120	1	0	0	0	0	1	0	0	0	7403	536	19	3	681	3	HSP90AA1	14	102549597	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	11898487	102549597	4799943	72	8960											
CHST14	113189	genome.wustl.edu	37	chr15	40764365	40764365	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtacgggcaccacctcAcgtccgatttccagctcgcc	11	16	1	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr15:40764365A>T	ENST00000306243.5	+	1	1206	c.953A>T	c.(952-954)cAc>cTc	p.H318L	CHST14_ENST00000559991.1_Missense_Mutation_p.H293L	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	318					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GCACCACCTCACGTCCGATTT	0.627																																																	0								ENSG00000169105						85	81	82					15																	40764365		2203	4300	6503	CHST14	SO:0001583	missense	0			-	HGNC	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.953A>T	15.37:g.40764365A>T	ENSP00000307297:p.His318Leu	Somatic	0	84	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP							pfam_Sulfotransferase	p.H318L	ENST00000306243.5	37	c.953	CCDS10059.1	15	.	.	.	.	.	.	.	.	.	.	A	3.332	-0.136434	0.06711	.	.	ENSG00000169105	ENST00000306243	T	0.73047	-0.71	4.76	3.61	0.41365	.	0.921050	0.09221	N	0.831870	T	0.42765	0.1217	N	0.04768	-0.165	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.41698	-0.9494	10	0.07325	T	0.83	-27.5264	4.5847	0.12277	0.547:0.1664:0.0:0.2866	.	318	Q8NCH0	CHSTE_HUMAN	L	318	ENSP00000307297:H318L	ENSP00000307297:H318L	H	+	2	0	CHST14	38551657	0.021000	0.18746	0.993000	0.49108	0.718000	0.41266	1.760000	0.38430	2.004000	0.58718	0.533000	0.62120	CAC	-	pfam_Sulfotransferase		0.627	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	protein_coding	OTTHUMT00000252251.1	A	NM_130468	-		40764365	1	no_errors	ENST00000306243	ensembl	human	known	74_37	missense	SNP	0.115	T	T	40764365	A	T	40764365	3	4	120	1	0	0	0	0	1	0	0	0	3404	159	6	5	955	5	CHST14	15	40764365	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09		40764365	61767027	73	8961											
LTK	4058	genome.wustl.edu	37	chr15	41797191	41797191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagatatctcgtgccatcCcaaagtccccaatcttggcc	8	14	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr15:41797191C>T	ENST00000263800.6	-	16	2093	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	LTK_ENST00000355166.5_Missense_Mutation_p.G605E|LTK_ENST00000561619.1_Missense_Mutation_p.G364E|LTK_ENST00000453182.2_Missense_Mutation_p.G536E	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCGTGCCATCCCAAAGTCCCC	0.572										TSP Lung(18;0.14)																																							0								ENSG00000062524						45	45	45					15																	41797191		2203	4300	6503	LTK	SO:0001583	missense	0			-	HGNC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1997G>A	15.37:g.41797191C>T	ENSP00000263800:p.Gly666Glu	Somatic	0	50	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G666E	ENST00000263800.6	37	c.1997	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883965	0.91814	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.99264	-5.65;-5.65;-3.12	4.71	4.71	0.59529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32987	U	0.005420	D	0.99684	0.9881	H	0.98612	4.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.97;0.998;1.0	D	0.97196	0.9861	10	0.87932	D	0	.	16.6171	0.84919	0.0:1.0:0.0:0.0	.	536;536;605;666	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	E	605;666;536	ENSP00000347293:G605E;ENSP00000263800:G666E;ENSP00000392196:G536E	ENSP00000263800:G666E	G	-	2	0	LTK	39584483	0.973000	0.33851	0.817000	0.32601	0.977000	0.68977	5.173000	0.65010	2.451000	0.82905	0.650000	0.86243	GGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.572	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	protein_coding	OTTHUMT00000252690.2	C		-		41797191	-1	no_errors	ENST00000263800	ensembl	human	known	74_37	missense	SNP	0.995	T	T	41797191	C	T	41797191	3	4	120	1	0	0	0	0	1	0	0	0	9082	623	22	2	617	2	LTK	15	41797191	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	1032826	41797191	60734201	74	8962											
SPTBN5	51332	genome.wustl.edu	37	chr15	42165696	42165696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggacgtggtacctggtgCttgttaatgagcctgagggt	15	7	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr15:42165696C>T	ENST00000320955.6	-	26	5228	c.5001G>A	c.(4999-5001)aaG>aaA	p.K1667K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1667					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)			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)		GTACCTGGTGCTTGTTAATGA	0.632																																																	0								ENSG00000137877						96	116	109					15																	42165696		1982	3836	5818	SPTBN5	SO:0001819	synonymous_variant	0			-	HGNC	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.5001G>A	15.37:g.42165696C>T		Somatic	0	38	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Silent	SNP							pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.K1667	ENST00000320955.6	37	c.5001		15																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	protein_coding	OTTHUMT00000420237.1	C	NM_016642	-		42165696	-1	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	SNP	0.997	T	T	42165696	C	T	42165696	2	4	120	1	0	0	0	0	0	0	0	1	15129	796	28	2		2	SPTBN5	15	42165696	Silent	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	368505	42165696	60365696	75	8963											
FBN1	2200	genome.wustl.edu	37	chr15	48729275	48729275	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctttgcattcgtccatatCttaagcaagagaaaaaaaat	5	7	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr15:48729275C>G	ENST00000316623.5	-	53	6835		c.e53-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						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)		TCGTCCATATCTTAAGCAAGA	0.333																																																	0								ENSG00000166147						80	78	79					15																	48729275		2198	4296	6494	FBN1	SO:0001630	splice_region_variant	0			-	HGNC	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.6380-1G>C	15.37:g.48729275C>G		Somatic	0	112	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	62	33.33	B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP							-	e52-1	ENST00000316623.5	37	c.6380-1	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812170	0.90707	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46516567	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	.	-	-		0.333	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	C		-	Intron	48729275	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	48729275	C	G	48729275	5	3	120	1	0	0	0	0	0	0	1	0	5704	927	32	4	2292	4	FBN1	15	48729275	Splice_Site	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	6563579	48729275	53802117	76	8964											
LARP6	55323	genome.wustl.edu	37	chr15	71124995	71124995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggtggcttcataccaAtcaggacagctttcatgttc	9	9	3	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr15:71124995A>G	ENST00000299213.8	-	3	942	c.872T>C	c.(871-873)aTt>aCt	p.I291T	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	291	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCATACCAATCAGGACAGC	0.498																																																	0								ENSG00000166173						135	128	130					15																	71124995		2199	4297	6496	LARP6	SO:0001583	missense	0			-	HGNC	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.872T>C	15.37:g.71124995A>G	ENSP00000299213:p.Ile291Thr	Somatic	0	88	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	69	27.37	Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP							pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.I291T	ENST00000299213.8	37	c.872	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895641	0.72639	.	.	ENSG00000166173	ENST00000299213	T	0.48201	0.82	5.04	5.04	0.67666	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	L	0.60455	1.87	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.60652	-0.7221	10	0.62326	D	0.03	-12.7028	12.7328	0.57206	1.0:0.0:0.0:0.0	.	291	Q9BRS8	LARP6_HUMAN	T	291	ENSP00000299213:I291T	ENSP00000299213:I291T	I	-	2	0	LARP6	68912049	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.811000	0.91954	1.905000	0.55150	0.454000	0.30748	ATT	-	NULL		0.498	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	protein_coding	OTTHUMT00000417197.2	A	NM_018357	-		71124995	-1	no_errors	ENST00000299213	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71124995	A	G	71124995	3	3	120	1	0	0	0	0	1	0	0	0	8634	101	4	5	607	5	LARP6	15	71124995	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	22395720	71124995	31406397	77	8965											
ISLR2	57611	genome.wustl.edu	37	chr15	74425761	74425761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagggggtgccggtGtaccgcctgcccgccctgcc	16	17	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr15:74425761G>A	ENST00000361742.3	+	4	1435	c.666G>A	c.(664-666)gtG>gtA	p.V222V	ISLR2_ENST00000565540.1_Silent_p.V222V|ISLR2_ENST00000419208.1_Silent_p.V222V|ISLR2_ENST00000435464.1_Silent_p.V222V|ISLR2_ENST00000453268.2_Silent_p.V222V|ISLR2_ENST00000445793.1_Silent_p.V222V|ISLR2_ENST00000565159.1_Silent_p.V222V|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	222	LRRCT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGTGCCGGTGTACCGCCTGC	0.716																																																	0								ENSG00000167178						24	27	26					15																	74425761		2195	4278	6473	ISLR2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.666G>A	15.37:g.74425761G>A		Somatic	0	34	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A8K352|Q9P263	Silent	SNP							pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom	p.V222	ENST00000361742.3	37	c.666	CCDS10259.1	15																																																																																			-	smart_Cys-rich_flank_reg_C		0.716	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	protein_coding	OTTHUMT00000269046.1	G	NM_020851	-		74425761	1	no_errors	ENST00000361742	ensembl	human	known	74_37	silent	SNP	0.746	A	A	74425761	G	A	74425761	2	1	120	1	0	0	0	0	0	0	0	1	7861	1364	48	2		2	ISLR2	15	74425761	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	3300766	74425761	28105631	78	8966											
TBL3	10607	genome.wustl.edu	37	chr16	2026921	2026921	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagccccagacaacggccctAtcctcctgcaggcccagacc	8	20	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr16:2026921A>T	ENST00000568546.1	+	14	1527	c.1399A>T	c.(1399-1401)Atc>Ttc	p.I467F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	467					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAACGGCCCTATCCTCCTGCA	0.617																																					Melanoma(118;616 1651 35077 38081 48633)												0								ENSG00000183751						110	89	96					16																	2026921		2198	4300	6498	TBL3	SO:0001583	missense	0			-	HGNC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1399A>T	16.37:g.2026921A>T	ENSP00000454836:p.Ile467Phe	Somatic	0	46	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I467F	ENST00000568546.1	37	c.1399	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	A	1.642	-0.516208	0.04200	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.27	-10.5	0.00291	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	2.017890	0.02164	N	0.059108	T	0.19725	0.0474	N	0.16368	0.405	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.06552	-1.0820	9	0.15066	T	0.55	-6.9127	5.8343	0.18599	0.5042:0.1422:0.2819:0.0717	.	229;467	A0JLS5;Q12788	.;TBL3_HUMAN	F	467	.	ENSP00000331815:I467F	I	+	1	0	TBL3	1966922	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.534000	0.06150	-2.355000	0.00614	-2.200000	0.00306	ATC	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.617	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	protein_coding	OTTHUMT00000250615.3	A	NM_006453	-		2026921	1	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	SNP	0.000	T	T	2026921	A	T	2026921	3	4	120	1	0	0	0	0	1	0	0	0	15650	449	16	5	1453	5	TBL3	16	2026921	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09		2026921	88327832	79	8967											
PKD1	5310	genome.wustl.edu	37	chr16	2156948	2156948	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggccactccggatcagcAcctggcgtgggagtggggtt	16	13	1	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr16:2156948A>C	ENST00000262304.4	-	17	7275	c.7067T>G	c.(7066-7068)gTg>gGg	p.V2356G	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Splice_Site_p.V2356G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2356	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGGATCAGCACCTGGCGTGG	0.602																																																	0								ENSG00000008710						13	18	16					16																	2156948		1303	2300	3603	PKD1	SO:0001630	splice_region_variant	0			-	HGNC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7066-1T>G	16.37:g.2156948A>C		Somatic	0	129	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	121	12.32	Q15140|Q15141	Missense_Mutation	SNP							pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V2356G	ENST00000262304.4	37	c.7067	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	A	18.26	3.583747	0.65992	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.73363	-0.74;-0.74	4.61	4.61	0.57282	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88326	0.2965	10	0.87932	D	0	.	14.5179	0.67830	1.0:0.0:0.0:0.0	.	2356;2356	P98161-3;P98161	.;PKD1_HUMAN	G	2356;2356;1707;635	ENSP00000262304:V2356G;ENSP00000399501:V2356G	ENSP00000262304:V2356G	V	-	2	0	PKD1	2096949	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	8.619000	0.90938	2.088000	0.63022	0.445000	0.29226	GTG	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.602	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	A		-	Missense_Mutation	2156948	-1	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2156948	A	C	2156948	5	2	120	1	0	0	0	0	0	0	1	0	11965	173	6	5	5964	5	PKD1	16	2156948	Splice_Site	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	130027	2156948	88197805	80	8968											
KIAA0556	23247	genome.wustl.edu	37	chr16	27751449	27751449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagacaaaggagatagggagGccccagctgaccacagcatc	12	11	0	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr16:27751449G>T	ENST00000261588.4	+	15	1850	c.1831G>T	c.(1831-1833)Gcc>Tcc	p.A611S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	611						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGATAGGGAGGCCCCAGCTGA	0.498																																																	0								ENSG00000047578						97	95	95					16																	27751449		2197	4300	6497	KIAA0556	SO:0001583	missense	0			-	HGNC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1831G>T	16.37:g.27751449G>T	ENSP00000261588:p.Ala611Ser	Somatic	0	39	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A7E2C2	Missense_Mutation	SNP							superfamily_Thaumatin	p.A611S	ENST00000261588.4	37	c.1831	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788204	0.31593	.	.	ENSG00000047578	ENST00000261588	T	0.09817	2.94	5.39	3.18	0.36537	.	0.450530	0.23977	N	0.042716	T	0.07458	0.0188	L	0.57536	1.79	0.09310	N	1	P	0.41848	0.763	B	0.30855	0.121	T	0.24012	-1.0172	10	0.08179	T	0.78	-8.6105	8.7155	0.34408	0.0:0.4151:0.4604:0.1245	.	611	O60303	K0556_HUMAN	S	611	ENSP00000261588:A611S	ENSP00000261588:A611S	A	+	1	0	KIAA0556	27658950	0.000000	0.05858	0.017000	0.16124	0.003000	0.03518	0.729000	0.26028	2.525000	0.85131	0.655000	0.94253	GCC	-	NULL		0.498	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	G	NM_015202	-		27751449	1	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	SNP	0.097	T	T	27751449	G	T	27751449	3	4	120	1	0	0	0	0	1	0	0	0	8185	1203	42	3	1889	3	KIAA0556	16	27751449	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	25594501	27751449	62603304	81	8969											
ANKRD11	29123	genome.wustl.edu	37	chr16	89347362	89347362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgggcagtgcaaagcgTcgactttgggcgacgggagg	19	9	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr16:89347362T>C	ENST00000301030.4	-	9	6048	c.5588A>G	c.(5587-5589)gAc>gGc	p.D1863G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1863G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1863	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTGCAAAGCGTCGACTTTGGG	0.627																																																	0								ENSG00000167522						41	45	44					16																	89347362		2198	4300	6498	ANKRD11	SO:0001583	missense	0			-	HGNC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5588A>G	16.37:g.89347362T>C	ENSP00000301030:p.Asp1863Gly	Somatic	0	79	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	Q6NTG1|Q6QMF8	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1863G	ENST00000301030.4	37	c.5588	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	t	11.61	1.691064	0.30052	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	4.58	4.58	0.56647	.	0.513913	0.17481	N	0.172701	T	0.31670	0.0804	N	0.24115	0.695	0.43000	D	0.99451	B	0.06786	0.001	B	0.04013	0.001	T	0.12372	-1.0550	10	0.62326	D	0.03	.	13.6397	0.62243	0.0:0.0:0.0:1.0	.	1863	Q6UB99	ANR11_HUMAN	G	1863	ENSP00000301030:D1863G;ENSP00000367581:D1863G	ENSP00000301030:D1863G	D	-	2	0	ANKRD11	87874863	0.838000	0.29461	0.018000	0.16275	0.002000	0.02628	1.850000	0.39328	1.706000	0.51276	0.370000	0.22315	GAC	-	NULL		0.627	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	protein_coding	OTTHUMT00000430462.3	T	NM_013275	-		89347362	-1	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	SNP	0.085	C	C	89347362	T	C	89347362	3	2	120	1	0	0	0	0	1	0	0	0	639	1667	58	5	2423	5	ANKRD11	16	89347362	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09	61595913	89347362	1007391	82	8970											
OR1G1	8390	genome.wustl.edu	37	chr17	3030438	3030438	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagatgcagagcccagggctCatgatcagaatgtaatgaag	12	7	2	5			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr17:3030438C>A	ENST00000328890.2	-	1	437	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	136					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)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GCCCAGGGCTCATGATCAGAA	0.507																																					Colon(127;1481 1654 8243 19426 50557)												0								ENSG00000183024						103	92	96					17																	3030438		2203	4300	6503	OR1G1	SO:0001583	missense	0			-	HGNC	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.408G>T	17.37:g.3030438C>A	ENSP00000331545:p.Met136Ile	Somatic	0	29	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58	Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136I	ENST00000328890.2	37	c.408	CCDS11020.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019956	0.75275	.	.	ENSG00000183024	ENST00000328890	T	0.00551	6.65	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01254	0.0041	M	0.88241	2.94	0.28144	N	0.929655	P	0.43826	0.818	B	0.39419	0.299	T	0.22836	-1.0205	9	0.66056	D	0.02	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	136	P47890	OR1G1_HUMAN	I	136	ENSP00000331545:M136I	ENSP00000331545:M136I	M	-	3	0	OR1G1	2977188	1.000000	0.71417	0.820000	0.32676	0.965000	0.64279	3.391000	0.52530	2.392000	0.81423	0.530000	0.56133	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.507	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1G1	protein_coding	OTTHUMT00000207206.2	C		-		3030438	-1	no_errors	ENST00000328890	ensembl	human	known	74_37	missense	SNP	0.915	A	A	3030438	C	A	3030438	3	1	120	1	0	0	0	0	1	0	0	0	10959	826	29	3	537	3	OR1G1	17	3030438	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09		3030438	78164772	83	8971											
OR3A2	4995	genome.wustl.edu	37	chr17	3181658	3181658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagagctggaagagctgtGggaggtcacagtagaagtga	18	4	1	4			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr17:3181658G>T	ENST00000408891.2	-	1	610	c.572C>A	c.(571-573)cCa>cAa	p.P191Q	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	191					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						GAAGAGCTGTGGGAGGTCACA	0.542																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)												0								ENSG00000221882						70	60	64					17																	3181658		2203	4297	6500	OR3A2	SO:0001583	missense	0			-	HGNC	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.572C>A	17.37:g.3181658G>T	ENSP00000386180:p.Pro191Gln	Somatic	0	49	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P191Q	ENST00000408891.2	37	c.572	CCDS42233.1	17	.	.	.	.	.	.	.	.	.	.	G	15.46	2.838979	0.51057	.	.	ENSG00000221882	ENST00000408891	T	0.00211	8.54	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.00666	0.0022	M	0.85462	2.755	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53099	-0.8486	10	0.48119	T	0.1	-19.2455	17.1521	0.86781	0.0:0.0:1.0:0.0	.	191	P47893	OR3A2_HUMAN	Q	191	ENSP00000386180:P191Q	ENSP00000386180:P191Q	P	-	2	0	OR3A2	3128408	0.115000	0.22152	0.944000	0.38274	0.797000	0.45037	1.283000	0.33237	2.715000	0.92844	0.561000	0.74099	CCA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.542	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	protein_coding	OTTHUMT00000438370.1	G		-		3181658	-1	no_errors	ENST00000408891	ensembl	human	known	74_37	missense	SNP	0.018	T	T	3181658	G	T	3181658	3	4	120	1	0	0	0	0	1	0	0	0	11040	1348	47	3	397	3	OR3A2	17	3181658	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	151220	3181658	78013552	84	8972											
GPRC5C	55890	genome.wustl.edu	37	chr17	72443158	72443158	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctttagaaacccctacgtGtgggactgagtcagcggtgg	14	9	2	2	rs151031492		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr17:72443158G>T	ENST00000392627.1	+	4	2578	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	GPRC5C_ENST00000342648.5_Silent_p.V124V|GPRC5C_ENST00000392629.2_Silent_p.V451V|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	439					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ACCCCTACGTGTGGGACTGAG	0.662																																																	0								ENSG00000170412						64	71	68					17																	72443158		2203	4300	6503	GPRC5C	SO:0001819	synonymous_variant	0			-	HGNC	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1452G>T	17.37:g.72443158G>T		Somatic	0	61	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	B5BUN4|Q2NL85|Q9NZG5	Silent	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.V484	ENST00000392627.1	37	c.1452	CCDS11699.1	17																																																																																			-	NULL		0.662	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	protein_coding	OTTHUMT00000145094.2	G		-		72443158	1	no_errors	ENST00000392627	ensembl	human	known	74_37	silent	SNP	0.924	T	T	72443158	G	T	72443158	2	4	120	1	0	0	0	0	0	0	0	1	6728	1364	48	3		3	GPRC5C	17	72443158	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	69261500	72443158	8752052	85	8973											
TNRC6C	57690	genome.wustl.edu	37	chr17	76047077	76047077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtggctggggcaacagcaCaaatacaaaggccaatccag	11	11	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr17:76047077C>A	ENST00000588061.1	+	5	2661	c.1934C>A	c.(1933-1935)aCa>aAa	p.T645K	TNRC6C_ENST00000335749.4_Missense_Mutation_p.T645K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T645K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T645K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T645K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T645K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	645	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGCAACAGCACAAATACAAAG	0.498																																																	0								ENSG00000078687						39	41	41					17																	76047077		1940	4132	6072	TNRC6C	SO:0001583	missense	0			-	HGNC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1934C>A	17.37:g.76047077C>A	ENSP00000468647:p.Thr645Lys	Somatic	0	86	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	106	20.30	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP							pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T645K	ENST00000588061.1	37	c.1934	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434810	0.12045	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.13778	2.57;2.56;2.56;2.57	6.08	6.08	0.98989	.	0.275050	0.43260	D	0.000599	T	0.17619	0.0423	L	0.56769	1.78	0.80722	D	1	P;P;B	0.37663	0.604;0.604;0.004	B;B;B	0.38842	0.283;0.156;0.008	T	0.04017	-1.0984	10	0.06099	T	0.92	-11.9722	20.6634	0.99662	0.0:1.0:0.0:0.0	.	645;645;645	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	645	ENSP00000336783:T645K;ENSP00000301624:T645K;ENSP00000440310:T645K;ENSP00000442421:T645K	ENSP00000301624:T645K	T	+	2	0	TNRC6C	73558672	1.000000	0.71417	0.972000	0.41901	0.769000	0.43574	3.662000	0.54510	2.894000	0.99253	0.655000	0.94253	ACA	-	NULL		0.498	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	protein_coding	OTTHUMT00000395947.1	C	NM_018996	-		76047077	1	no_errors	ENST00000335749	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76047077	C	A	76047077	3	1	120	1	0	0	0	0	1	0	0	0	16349	478	17	3	1936	3	TNRC6C	17	76047077	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	3603919	76047077	5148133	86	8974											
FASN	2194	genome.wustl.edu	37	chr17	80050656	80050656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacaacgagcggatgagctGctcctggatatcccctgagg	13	11	0	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr17:80050656G>T	ENST00000306749.2	-	7	1029	c.811C>A	c.(811-813)Cag>Aag	p.Q271K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	271	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGGATGAGCTGCTCCTGGATA	0.677																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						27	28	28					17																	80050656		2182	4290	6472	FASN	SO:0001583	missense	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.811C>A	17.37:g.80050656G>T	ENSP00000304592:p.Gln271Lys	Somatic	0	90	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	97	16.38	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP							pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.Q271K	ENST00000306749.2	37	c.811	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	8.075	0.771150	0.16051	.	.	ENSG00000169710	ENST00000306749	T	0.25414	1.8	4.89	3.91	0.45181	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.236271	0.37623	N	0.002008	T	0.14056	0.0340	N	0.11927	0.2	0.36659	D	0.877852	B	0.20368	0.044	B	0.19391	0.025	T	0.09143	-1.0688	10	0.07813	T	0.8	-22.3812	15.1604	0.72778	0.0:0.1421:0.8579:0.0	.	271	P49327	FAS_HUMAN	K	271	ENSP00000304592:Q271K	ENSP00000304592:Q271K	Q	-	1	0	FASN	77643945	0.988000	0.35896	0.572000	0.28498	0.264000	0.26372	0.950000	0.29122	1.020000	0.39573	0.467000	0.42956	CAG	-	pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	G	NM_004104	-		80050656	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80050656	G	T	80050656	3	4	120	1	0	0	0	0	1	0	0	0	5685	1328	46	3	6872	3	FASN	17	80050656	Missense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	4003579	80050656	1144554	87	8975											
DSG2	1829	genome.wustl.edu	37	chr18	29122740	29122740	+	Frame_Shift_Del	DEL	T	T	-													accgcaagggccacaggggcTtccagagacatggccggagc							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr18:29122740delT	ENST00000261590.8	+	14	2468	c.2259delT	c.(2257-2259)gctfs	p.A753fs	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	753					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)			CCACAGGGGCTTCCAGAGACA	0.493																																																	0								ENSG00000046604						80	88	85					18																	29122740		2049	4201	6250	DSG2	SO:0001589	frameshift_variant	0				HGNC	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.2259delT	18.37:g.29122740delT	ENSP00000261590:p.Ala753fs	Somatic	0	55	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	Q4KKU6	Frame_Shift_Del	DEL							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.S754fs	ENST00000261590.8	37	c.2259	CCDS42423.1	18																																																																																			-	NULL		0.493	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	T	NM_001943			29122740	1	no_errors	ENST00000261590	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	29122740	T	-	29122740	7	5	120	1	0	1	0	1	0	0	0	0	4779	1596	56	0	2313	0	DSG2	18	29122740	Frame_Shift_Del	DEL	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		29122740	48954508	88	8976											
LRG1	116844	genome.wustl.edu	37	chr19	4538293	4538293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagcgcaggtccggctGcggcaagaggagatcttttc	16	9	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr19:4538293G>A	ENST00000306390.6	-	2	1163	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	235					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCGGCTGCGGCAAGAGG	0.597																																																	0								ENSG00000171236						212	230	224					19																	4538293		2203	4300	6503	LRG1	SO:0001587	stop_gained	0			-	HGNC		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.703C>T	19.37:g.4538293G>A	ENSP00000302621:p.Gln235*	Somatic	0	50	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	65	15.58	Q8N4F5|Q96QZ4	Nonsense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q235*	ENST00000306390.6	37	c.703	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	18.89	3.719247	0.68844	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	.	.	.	5.14	4.05	0.47172	.	0.000000	0.38548	N	0.001644	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-28.6216	10.9661	0.47414	0.0:0.0:0.8145:0.1855	.	.	.	.	X	235;218	.	ENSP00000302621:Q235X	Q	-	1	0	LRG1	4489293	0.000000	0.05858	0.479000	0.27329	0.010000	0.07245	0.469000	0.22067	2.674000	0.91012	0.655000	0.94253	CAG	-	NULL		0.597	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	protein_coding	OTTHUMT00000458654.2	G	NM_052972	-		4538293	-1	no_errors	ENST00000306390	ensembl	human	known	74_37	nonsense	SNP	0.029	A	A	4538293	G	A	4538293	4	1	120	1	0	0	0	0	0	1	0	0	8944	1328	46	2	344	2	LRG1	19	4538293	Nonsense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		4538293	54590690	89	8977											
EMR2	30817	genome.wustl.edu	37	chr19	14877108	14877108	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcggttgccagcccgggcgGcagcggcactgatagctgcc	15	14	0	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr19:14877108G>T	ENST00000315576.3	-	7	1024	c.573C>A	c.(571-573)tgC>tgA	p.C191*	EMR2_ENST00000392965.3_Nonsense_Mutation_p.C191*|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392967.2_Nonsense_Mutation_p.C191*|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Nonsense_Mutation_p.C191*|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000601345.1_Nonsense_Mutation_p.C191*|EMR2_ENST00000594076.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	191	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCCCGGGCGGCAGCGGCACT	0.587																																																	0								ENSG00000127507						84	87	86					19																	14877108		2203	4297	6500	EMR2	SO:0001587	stop_gained	0			-	HGNC	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.573C>A	19.37:g.14877108G>T	ENSP00000319883:p.Cys191*	Somatic	0	54	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	27	59.09	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Nonsense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.C191*	ENST00000315576.3	37	c.573	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.741500	0.97805	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000360222;ENST00000392965	.	.	.	3.04	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.201	0.20575	0.1414:0.0:0.8586:0.0	.	.	.	.	X	191	.	ENSP00000319883:C191X	C	-	3	2	EMR2	14738108	0.037000	0.19845	0.481000	0.27354	0.020000	0.10135	0.043000	0.13971	0.867000	0.35654	0.494000	0.49563	TGC	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	protein_coding	OTTHUMT00000466502.2	G		-		14877108	-1	no_errors	ENST00000315576	ensembl	human	known	74_37	nonsense	SNP	0.597	T	T	14877108	G	T	14877108	4	4	120	1	0	0	0	0	0	1	0	0	5107	1195	42	3	1958	3	EMR2	19	14877108	Nonsense_Mutation	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	10338815	14877108	44251875	90	8978											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55340890	55340890	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatcctcctcctcttctttCtccttcatctctggtgctcc	3	18	6	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr19:55340890C>A	ENST00000391728.4	+	7	1108	c.1075C>A	c.(1075-1077)Ctc>Atc	p.L359I	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L264I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L342I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L342I|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L359I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	359					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		cctcttctttctccttcatct	0.532																																																	0								ENSG00000167633						220	168	186					19																	55340890		2172	4155	6327	KIR3DL1	SO:0001583	missense	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1075C>A	19.37:g.55340890C>A	ENSP00000375608:p.Leu359Ile	Somatic	0	85	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	35.53	O43473|Q14946|Q16541	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub	p.L359I	ENST00000391728.4	37	c.1075	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	7.893	0.732681	0.15507	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00527	6.79;6.95;6.79;6.95;6.8	0.743	-1.49	0.08718	.	1.832190	0.04320	U	0.350505	T	0.01092	0.0036	M	0.85462	2.755	0.09310	N	1	P;P;P	0.46952	0.614;0.772;0.887	B;P;P	0.51385	0.263;0.541;0.668	T	0.35525	-0.9785	10	0.66056	D	0.02	.	1.6777	0.02825	0.3283:0.4101:0.0:0.2616	.	342;264;359	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	I	359;342;337;359;342;264	ENSP00000443350:L359I;ENSP00000442355:L342I;ENSP00000375608:L359I;ENSP00000326868:L342I;ENSP00000350901:L264I	ENSP00000326868:L342I	L	+	1	0	KIR3DL1	60032702	0.031000	0.19500	0.001000	0.08648	0.006000	0.05464	1.299000	0.33424	-0.684000	0.05183	-1.123000	0.02005	CTC	-	NULL		0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	protein_coding	OTTHUMT00000141238.1	C	NM_013289	-		55340890	1	no_errors	ENST00000391728	ensembl	human	known	74_37	missense	SNP	0.001	A	A	55340890	C	A	55340890	3	1	120	1	0	0	0	0	1	0	0	0	8322	913	32	3	1101	3	KIR3DL1	19	55340890	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	40463782	55340890	3788093	91	8979											
C19orf51	352909	genome.wustl.edu	37	chr19	55672542	55672542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtacccgcgcgctgccAcgcgctccccacgctggaaa	10	20	0	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr19:55672542A>G	ENST00000524407.2	-	8	836	c.803T>C	c.(802-804)gTg>gCg	p.V268A	DNAAF3_ENST00000455045.1_Missense_Mutation_p.V214A|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.V315A|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000527223.2_Missense_Mutation_p.V336A			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	268					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCGCGCTGCCACGCGCTCCCC	0.687																																																	0								ENSG00000167646						8	11	10					19																	55672542		2107	4210	6317	DNAAF3	SO:0001583	missense	0			-	HGNC	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.803T>C	19.37:g.55672542A>G	ENSP00000432046:p.Val268Ala	Somatic	0	71	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	45	45.12	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP							NULL	p.V336A	ENST00000524407.2	37	c.1007	CCDS59422.1	19	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392145	0.62066	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.19532	2.14;2.14	4.39	4.39	0.52855	.	0.073892	0.53938	D	0.000053	T	0.33847	0.0877	M	0.76170	2.325	0.20196	N	0.99993	P;D;P;D	0.55385	0.93;0.971;0.93;0.971	P;P;P;P	0.50934	0.561;0.654;0.459;0.654	T	0.22591	-1.0212	10	0.56958	D	0.05	-25.6895	11.4881	0.50365	1.0:0.0:0.0:0.0	.	336;214;289;268	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	A	336;214;315	ENSP00000394343:V214A;ENSP00000375600:V315A	ENSP00000301249:V336A	V	-	2	0	C19orf51	60364354	0.725000	0.28048	0.966000	0.40874	0.964000	0.63967	5.527000	0.67123	1.766000	0.52107	0.454000	0.30748	GTG	-	NULL		0.687	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	protein_coding	OTTHUMT00000250388.5	A	NM_178837	-		55672542	-1	no_errors	ENST00000527223	ensembl	human	known	74_37	missense	SNP	0.242	G	G	55672542	A	G	55672542	3	3	120	1	0	0	0	0	1	0	0	0	1935	159	6	5	842	5	C19orf51	19	55672542	Missense_Mutation	SNP	A	TCGA-DX-AB2Q-01A-11D-A38Z-09	331652	55672542	3456441	92	8980											
C20orf3	57136	genome.wustl.edu	37	chr20	24949549	24949549	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaaatcatccttttaatCcagggtctctcagataagaa	5	8	3	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr20:24949549C>T	ENST00000217456.2	-	8	1310	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	340					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										TCCTTTTAATCCAGGGTCTCT	0.423																																																	0								ENSG00000101474						57	60	59					20																	24949549		2203	4300	6503	APMAP	SO:0001587	stop_gained	0			-	HGNC	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.1020G>A	20.37:g.24949549C>T	ENSP00000217456:p.Trp340*	Somatic	0	86	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	61	12.86	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Nonsense_Mutation	SNP							pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.W340*	ENST00000217456.2	37	c.1020	CCDS13166.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.599715|5.599715	0.96614|0.96614	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456	.|.	.|.	.|.	5.54|5.54	-2.18|-2.18	0.07037|0.07037	.|.	.|0.725798	.|0.15490	.|N	.|0.259606	T|.	0.32675|.	0.0837|.	.|.	.|.	.|.	0.23376|0.23376	N|N	0.9978|0.9978	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31280|.	-0.9949|.	4|.	.|0.27082	.|T	.|0.32	10.012|10.012	10.1724|10.1724	0.42917|0.42917	0.1621:0.5655:0.2724:0.0|0.1621:0.5655:0.2724:0.0	.|.	.|.	.|.	.|.	E|X	325|340	.|.	.|ENSP00000217456:W340X	G|W	-|-	2|3	0|0	C20orf3|C20orf3	24897549|24897549	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.726000|0.726000	0.41606|0.41606	2.338000|2.338000	0.43957|0.43957	-0.660000|-0.660000	0.05352|0.05352	-0.397000|-0.397000	0.06425|0.06425	GGA|TGG	-	NULL		0.423	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	protein_coding	OTTHUMT00000078380.2	C	NM_020531	-		24949549	-1	no_errors	ENST00000217456	ensembl	human	known	74_37	nonsense	SNP	0.324	T	T	24949549	C	T	24949549	4	4	120	1	0	0	0	0	0	1	0	0	2111	856	30	2	238	2	C20orf3	20	24949549	Nonsense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09		24949549	38075971	93	8981											
MYH7B	26133	genome.wustl.edu	37	chr20	33588591	33588591	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacacaggcctcctaaaccaGaagaagaagctggaggcgga	12	10	0	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr20:33588591G>C	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.Q1775H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						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)			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)			TCCTAAACCAGAAGAAGAAGC	0.632																																																	0								ENSG00000078814						29	37	34					20																	33588591		2025	4179	6204	MYH7B	SO:0001628	intergenic_variant	0			-	HGNC	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		20.37:g.33588591G>C		Somatic	0	35	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	32	50.00	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1775H	ENST00000252015.2	37	c.5325	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614974	0.28712	.	.	ENSG00000078814	ENST00000262873	T	0.79141	-1.24	4.24	3.3	0.37823	Myosin tail (1);	0.000000	0.34628	N	0.003816	D	0.83792	0.5331	M	0.71206	2.165	0.34649	D	0.721464	D	0.71674	0.998	D	0.80764	0.994	D	0.85902	0.1435	10	0.59425	D	0.04	.	5.9741	0.19369	0.1869:0.1567:0.6564:0.0	.	1733	A7E2Y1	MYH7B_HUMAN	H	1775	ENSP00000262873:Q1775H	ENSP00000262873:Q1775H	Q	+	3	2	MYH7B	33052252	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.177000	0.31969	0.983000	0.38602	-0.700000	0.03674	CAG	-	pfam_Myosin_tail		0.632	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7B	protein_coding	OTTHUMT00000078832.2	G	NM_015638	-		33588591	1	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	SNP	1.000	C	C	33588591	G	C	33588591	1	2	120	0	1	0	0	0	0	0	0	0	10042	933	33	4		4	MYH7B	20	33588591	IGR	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	8639042	33588591	29436929	94	8982											
C20orf165	128497	genome.wustl.edu	37	chr20	44515227	44515240	+	Frame_Shift_Del	DEL	CATGTGCCTGCTCC	CATGTGCCTGCTCC	-													cttcccagaggctgtgtgggCatgtgcctgctcccaccgcg							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	CATGTGCCTGCTCC	CATGTGCCTGCTCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr20:44515227_44515240delCATGTGCCTGCTCC	ENST00000372519.3	-	2	644_657	c.600_613delGGAGCAGGCACATG	c.(598-615)tgggagcaggcacatgccfs	p.WEQAHA200fs		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	200					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTGTGTGGGCATGTGCCTGCTCCCACCGCGCCC	0.603																																																	0								ENSG00000149634																																			SPATA25	SO:0001589	frameshift_variant	0				HGNC	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.600_613delGGAGCAGGCACATG	20.37:g.44515227_44515240delCATGTGCCTGCTCC	ENSP00000361597:p.Trp200fs	Somatic					0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							NULL	p.W200fs	ENST00000372519.3	37	c.613_600	CCDS13383.1	20																																																																																			-	NULL		0.603	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA25	protein_coding	OTTHUMT00000079541.1	CATGTGCCTGCTCC				44515240	-1	no_errors	ENST00000372519	ensembl	human	known	74_37	frame_shift_del	DEL	0.056:0.000:0.000:0.002:0.000:0.002:0.239:0.643:0.702:0.768:0.616:0.646:0.984:0.996	-	-	44515240	CATGTGCCTGCTCC	-	44515227	7	5	120	1	0	1	0	1	0	0	0	0	2096	710	25	0	74	0	C20orf165	20	44515227	Frame_Shift_Del	DEL	CATGTGCCTGCTCC	TCGA-DX-AB2Q-01A-11D-A38Z-09	10926636	44515227	18510293	95	8983											
PARD6B	84612	genome.wustl.edu	37	chr20	49366862	49366862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatactgagagcctggagtCattaacacagatagagctaa	9	7	1	3			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr20:49366862C>T	ENST00000371610.2	+	3	1199	c.956C>T	c.(955-957)tCa>tTa	p.S319L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	319					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AGCCTGGAGTCATTAACACAG	0.443																																																	0								ENSG00000124171						113	106	108					20																	49366862		2203	4300	6503	PARD6B	SO:0001583	missense	0			-	HGNC	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.956C>T	20.37:g.49366862C>T	ENSP00000360672:p.Ser319Leu	Somatic	0	69	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	43	39.44	A2A2A7|Q9Y510	Missense_Mutation	SNP							pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.S319L	ENST00000371610.2	37	c.956	CCDS33485.1	20	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563900	0.65651	.	.	ENSG00000124171	ENST00000371610	T	0.15487	2.42	5.73	5.73	0.89815	.	0.183393	0.41001	D	0.000972	T	0.26738	0.0654	M	0.63428	1.95	0.80722	D	1	P	0.48764	0.915	P	0.45343	0.477	T	0.00939	-1.1507	10	0.28530	T	0.3	-23.8856	19.8928	0.96935	0.0:1.0:0.0:0.0	.	319	Q9BYG5	PAR6B_HUMAN	L	319	ENSP00000360672:S319L	ENSP00000360672:S319L	S	+	2	0	PARD6B	48800269	0.999000	0.42202	0.751000	0.31187	0.271000	0.26615	4.740000	0.62087	2.713000	0.92767	0.591000	0.81541	TCA	-	NULL		0.443	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6B	protein_coding	OTTHUMT00000079697.2	C	NM_032521	-		49366862	1	no_errors	ENST00000371610	ensembl	human	known	74_37	missense	SNP	0.991	T	T	49366862	C	T	49366862	3	4	120	1	0	0	0	0	1	0	0	0	11448	838	29	2	966	2	PARD6B	20	49366862	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	4851635	49366862	13658658	96	8984											
TSHZ2	128553	genome.wustl.edu	37	chr20	51870078	51870080	+	In_Frame_Del	DEL	AAA	AAA	-													ctgaaagaagaggaggaaatAaaagaagaggaggaggagga					rs552810975	byFrequency	TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	AAA	AAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr20:51870078_51870080delAAA	ENST00000371497.5	+	2	968_970	c.81_83delAAA	c.(79-84)ataaaa>ata	p.K28del	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_In_Frame_Del_p.K25del|TSHZ2_ENST00000329613.6_In_Frame_Del_p.K25del	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	28					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			aggaggaaataaaagaagaggag	0.502																																																	0								ENSG00000182463		,	29,4235		0,29,2103					,	5.7	1			38	1,8253		0,1,4126	no	coding,coding	TSHZ2	NM_173485.5,NM_001193421.1	,	0,30,6229	A1A1,A1R,RR		0.0121,0.6801,0.2397	,	,		30,12488				TSHZ2	SO:0001651	inframe_deletion	0				HGNC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.81_83delAAA	20.37:g.51870078_51870080delAAA	ENSP00000360552:p.Lys28del	Somatic	0	50	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	67	17.28	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	In_Frame_Del	DEL							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K28in_frame_del	ENST00000371497.5	37	c.81_83	CCDS33490.1	20																																																																																			-	NULL		0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	AAA	NM_173485			51870080	1	no_errors	ENST00000371497	ensembl	human	known	74_37	in_frame_del	DEL	0.466:0.989:1.000	-	-	51870080	AAA	-	51870078	7	5	120	1	0	1	0	1	0	0	0	0	16631	352	13	0	87	0	TSHZ2	20	51870078	In_Frame_Del	DEL	AAA	TCGA-DX-AB2Q-01A-11D-A38Z-09	2503216	51870078	11155442	97	8985											
EP300	2033	genome.wustl.edu	37	chr22	41513493	41513493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacacaggcaggcttgactTctcccaacatggggatgggc	13	11	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr22:41513493T>G	ENST00000263253.7	+	2	1616	c.397T>G	c.(397-399)Tct>Gct	p.S133A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	133	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCTTGACTTCTCCCAACAT	0.512			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0								ENSG00000100393						64	59	61					22																	41513493		2203	4300	6503	EP300	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	-	HGNC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.397T>G	22.37:g.41513493T>G	ENSP00000263253:p.Ser133Ala	Somatic	0	29	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B1AKC2	Missense_Mutation	SNP							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S133A	ENST00000263253.7	37	c.397	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183841	0.38609	.	.	ENSG00000100393	ENST00000263253	D	0.83250	-1.7	5.89	5.89	0.94794	.	0.000000	0.46758	D	0.000279	T	0.76941	0.4058	L	0.43152	1.355	0.36180	D	0.849348	B	0.25667	0.131	B	0.27715	0.082	T	0.74544	-0.3630	10	0.07990	T	0.79	-8.5901	16.3043	0.82842	0.0:0.0:0.0:1.0	.	133	Q09472	EP300_HUMAN	A	133	ENSP00000263253:S133A	ENSP00000263253:S133A	S	+	1	0	EP300	39843439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.793000	0.55484	2.231000	0.72958	0.533000	0.62120	TCT	-	NULL		0.512	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	T	NM_001429	-		41513493	1	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	SNP	1.000	G	G	41513493	T	G	41513493	3	3	120	1	0	0	0	0	1	0	0	0	5150	1783	62	5	403	5	EP300	22	41513493	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09		41513493	9791073	98	8986											
SCUBE1	80274	genome.wustl.edu	37	chr22	43604213	43604213	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggtctcataggtggTgatggacgtgggagaggctg	19	6	1	2			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr22:43604213T>A	ENST00000360835.4	-	20	2725	c.2599A>T	c.(2599-2601)Acc>Tcc	p.T867S		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	867	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCATAGGTGGTGATGGACGTG	0.612																																																	0								ENSG00000159307						225	170	189					22																	43604213		2203	4300	6503	SCUBE1	SO:0001583	missense	0			-	HGNC		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2599A>T	22.37:g.43604213T>A	ENSP00000354080:p.Thr867Ser	Somatic	0	33	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	63	20.25	Q5R336	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.T867S	ENST00000360835.4	37	c.2599	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	T	16.28	3.077452	0.55753	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.34072	1.38	3.76	3.76	0.43208	CUB (5);	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53078	-0.8489	10	0.87932	D	0	.	12.9257	0.58258	0.0:0.0:0.0:1.0	.	867	Q8IWY4	SCUB1_HUMAN	S	867;497	ENSP00000354080:T867S	ENSP00000354080:T867S	T	-	1	0	SCUBE1	41934157	1.000000	0.71417	0.998000	0.56505	0.161000	0.22273	7.724000	0.84798	1.708000	0.51301	0.260000	0.18958	ACC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.612	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	protein_coding	OTTHUMT00000319582.3	T	NM_173050	-		43604213	-1	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43604213	T	A	43604213	3	1	120	1	0	0	0	0	1	0	0	0	13952	1696	59	5	379	5	SCUBE1	22	43604213	Missense_Mutation	SNP	T	TCGA-DX-AB2Q-01A-11D-A38Z-09	2090720	43604213	7700353	99	8987											
ZBED4	9889	genome.wustl.edu	37	chr22	50278947	50278948	+	Frame_Shift_Ins	INS	-	-	A													gacttgccaacagtggtcacINSaaaaaacaatcaagttatgt					rs202191291|rs145958586		TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chr22:50278947_50278948insA	ENST00000216268.5	+	2	2114_2115	c.1637_1638insA	c.(1636-1641)acaaaafs	p.TK546fs		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	546						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)		ACAGTGGTCACAAAAAACAATC	0.446																																																	0								ENSG00000100426																																			ZBED4	SO:0001589	frameshift_variant	0				HGNC	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.1643dupA	22.37:g.50278953_50278953dupA	ENSP00000216268:p.Thr546fs	Somatic	0	56	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	77	14.44	B2RZH1|Q1ECU0|Q9UGG8	Frame_Shift_Ins	INS							pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.N548fs	ENST00000216268.5	37	c.1637_1638	CCDS33677.1	22																																																																																			-	NULL		0.446	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	protein_coding	OTTHUMT00000317408.2	-	NM_014838			50278948	1	no_errors	ENST00000216268	ensembl	human	known	74_37	frame_shift_ins	INS	0.005:0.000	A	A	50278948	-	A	50278947	7	5	120	1	0	1	1	0	0	0	0	0	17527	478	17	0	1639	0	ZBED4	22	50278947	Frame_Shift_Ins	INS	-	TCGA-DX-AB2Q-01A-11D-A38Z-09	6674734	50278947	1025619	100	8988											
ARSD	414	genome.wustl.edu	37	chrX	2827908	2827908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccacagtagggaacacGtccatcaggctcgtgggctc	13	12	1	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chrX:2827908G>A	ENST00000381154.1	-	8	1323	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	416					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)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		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)				TAGGGAACACGTCCATCAGGC	0.602																																																	0								ENSG00000006756						48	42	44					X																	2827908		2203	4300	6503	ARSD	SO:0001819	synonymous_variant	0			-	HGNC	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1248C>T	X.37:g.2827908G>A		Somatic	0	77	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	Q9UHJ8	Silent	SNP							pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.D416	ENST00000381154.1	37	c.1248	CCDS35196.1	X																																																																																			-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.602	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	protein_coding	OTTHUMT00000055636.1	G		-		2827908	-1	no_errors	ENST00000381154	ensembl	human	known	74_37	silent	SNP	0.992	A	A	2827908	G	A	2827908	2	1	120	1	0	0	0	0	0	0	0	1	989	1136	40	1		1	ARSD	23	2827908	Silent	SNP	G	TCGA-DX-AB2Q-01A-11D-A38Z-09		2827908	152442652	101	8989											
SPIN4	139886	genome.wustl.edu	37	chrX	62570182	62570182	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aataatgcgtaagtcaccatCtttgtagtcatcaagcagcg	8	9	4	0			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chrX:62570182C>T	ENST00000335144.3	-	1	1036	c.517G>A	c.(517-519)Gat>Aat	p.D173N	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.D155N	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	173					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						AAGTCACCATCTTTGTAGTCA	0.483																																																	0								ENSG00000186767						150	140	143					X																	62570182		2025	4173	6198	SPIN4	SO:0001583	missense	0			-	HGNC	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.517G>A	X.37:g.62570182C>T	ENSP00000334163:p.Asp173Asn	Somatic	0	44	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	B3KX90|Q5JUL2	Missense_Mutation	SNP							pfam_Spin_Ssty	p.D173N	ENST00000335144.3	37	c.517	CCDS43964.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210508	0.79240	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.46451	0.88;0.87	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.43152	1.355	0.47621	D	0.999473	P	0.41420	0.749	B	0.40602	0.334	T	0.42050	-0.9474	10	0.87932	D	0	-36.6044	12.6174	0.56584	0.0:1.0:0.0:0.0	.	173	Q56A73	SPIN4_HUMAN	N	155;173	ENSP00000364018:D155N;ENSP00000334163:D173N	ENSP00000334163:D173N	D	-	1	0	SPIN4	62486907	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.280000	0.72626	2.130000	0.65690	0.544000	0.68410	GAT	-	NULL		0.483	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN4	protein_coding		C	NM_001012968	-		62570182	-1	no_errors	ENST00000335144	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62570182	C	T	62570182	3	4	120	1	0	0	0	0	1	0	0	0	15063	913	32	2	236	2	SPIN4	23	62570182	Missense_Mutation	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	59742274	62570182	92700378	102	8990											
TEX11	56159	genome.wustl.edu	37	chrX	69830390	69830390	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagtcgatccatttctttCttcctaaaaataaagaaaag	4	7	2	1			TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chrX:69830390C>T	ENST00000395889.2	-	22	1955	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	TEX11_ENST00000374320.2_Silent_p.K275K|TEX11_ENST00000344304.3_Silent_p.K600K|TEX11_ENST00000374333.2_Silent_p.K585K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	600				K -> E (in Ref. 1; BAB71465). {ECO:0000305}.	chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCATTTCTTTCTTCCTAAAAA	0.338																																																	0								ENSG00000120498						124	123	123					X																	69830390		2203	4300	6503	TEX11	SO:0001819	synonymous_variant	0			-	HGNC	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1800G>A	X.37:g.69830390C>T		Somatic	0	201	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	99	19.51	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP							pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.K600	ENST00000395889.2	37	c.1800	CCDS35323.1	X																																																																																			-	NULL		0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	protein_coding	OTTHUMT00000359072.1	C		-		69830390	-1	no_errors	ENST00000344304	ensembl	human	known	74_37	silent	SNP	0.815	T	T	69830390	C	T	69830390	2	4	120	1	0	0	0	0	0	0	0	1	15781	912	32	2		2	TEX11	23	69830390	Silent	SNP	C	TCGA-DX-AB2Q-01A-11D-A38Z-09	7260208	69830390	85440170	103	8991											
GLA	2717	genome.wustl.edu	37	chrX	100653780	100653780	+	Frame_Shift_Del	DEL	G	G	-													ctcaagtttttaccatatctGggtcattccaaccccctggt							TCGA-DX-AB2Q-01A-11D-A38Z-09	TCGA-DX-AB2Q-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2efcaa60-02fc-4a76-b706-d8e466b8a002	550cb351-7d6a-45f1-a370-c8fee525d3a6	g.chrX:100653780delG	ENST00000218516.3	-	5	815	c.794delC	c.(793-795)ccafs	p.P265fs	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	265			P -> R (in FD). {ECO:0000269|PubMed:8931708}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)	p.P265Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TACCATATCTGGGTCATTCCA	0.428																																					Colon(193;776 2816 31189 44474)												1	Substitution - Missense(1)	lung(1)	GRCh37	CM051528|CM960770	GLA	M		ENSG00000102393						136	126	129					X																	100653780		2203	4300	6503	GLA	SO:0001589	frameshift_variant	0				HGNC	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.794delC	X.37:g.100653780delG	ENSP00000218516:p.Pro265fs	Somatic	0	189	0		0.62097553658766				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	Q6LER7	Frame_Shift_Del	DEL							pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.P265fs	ENST00000218516.3	37	c.794	CCDS14484.1	X																																																																																			-	superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27		0.428	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	protein_coding	OTTHUMT00000057540.1	G				100653780	-1	no_errors	ENST00000218516	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	100653780	G	-	100653780	7	5	120	1	0	1	0	1	0	0	0	0	6428	1348	47	0	507	0	GLA	23	100653780	Frame_Shift_Del	DEL	G	TCGA-DX-AB2Q-01A-11D-A38Z-09	30823390	100653780	54616780	104	8992											
TCHH	7062	genome.wustl.edu	37	chr1	152084230	152084235	+	In_Frame_Del	DEL	CAACGT	CAACGT	-													cctcctcctcgagcttcagcCaacgttcgcgcctctcctcc					rs72477385	byFrequency	TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	CAACGT	CAACGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152084230_152084235delCAACGT	ENST00000368804.1	-	2	1457_1462	c.1458_1463delACGTTG	c.(1456-1464)gaacgttgg>gag	p.RW487del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	487	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R487S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTTCAGCCAACGTTCGCGCCTct	0.67																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000159450																																			TCHH	SO:0001651	inframe_deletion	0				HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1458_1463delACGTTG	1.37:g.152084230_152084235delCAACGT	ENSP00000357794:p.Arg487_Trp488del	Somatic					0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5VUI3	In_Frame_Del	DEL							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.RW487in_frame_del	ENST00000368804.1	37	c.1463_1458	CCDS41396.1	1																																																																																			-	NULL		0.67	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	CAACGT	NM_007113			152084235	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-	-	152084235	CAACGT	-	152084230	7	5	121	1	0	1	0	1	0	0	0	0	15707	595	21	0	4372	0	TCHH	1	152084230	In_Frame_Del	DEL	CAACGT	TCGA-DX-AB2S-01A-11D-A38Z-09		152084230	97166391	1	8993											
HRNR	388697	genome.wustl.edu	37	chr1	152186899	152186899	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttggccgtggcccaaagaCtgacgggagccagacccatg	14	12	0	3			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152186899C>G	ENST00000368801.2	-	3	7281	c.7206G>C	c.(7204-7206)caG>caC	p.Q2402H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2402					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAGC	0.587																																																	0								ENSG00000197915																																			HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7206G>C	1.37:g.152186899C>G	ENSP00000357791:p.Gln2402His	Somatic	0	110	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	106	22.63	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q2402H	ENST00000368801.2	37	c.7206	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	6.699	0.497554	0.12762	.	.	ENSG00000197915	ENST00000368801	T	0.02498	4.27	2.76	0.731	0.18277	.	.	.	.	.	T	0.02571	0.0078	L	0.38838	1.175	0.21967	N	0.999446	D	0.76494	0.999	D	0.79784	0.993	T	0.46952	-0.9154	9	0.41790	T	0.15	.	6.5005	0.22166	0.0:0.7311:0.0:0.2689	.	2402	Q86YZ3	HORN_HUMAN	H	2402	ENSP00000357791:Q2402H	ENSP00000357791:Q2402H	Q	-	3	2	HRNR	150453523	0.005000	0.15991	0.026000	0.17262	0.090000	0.18270	-0.029000	0.12329	0.053000	0.16036	0.650000	0.86243	CAG	-	NULL		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152186899	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.868	G	G	152186899	C	G	152186899	3	3	121	1	0	0	0	0	1	0	0	0	7361	564	20	4	1350	4	HRNR	1	152186899	Missense_Mutation	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09	102669	152186899	97063722	2	8994			1	69		3	3	183	C		9.09129e-09
HRNR	388697	genome.wustl.edu	37	chr1	152187037	152187037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgagccagatccatgCtgagtgtaaccagaggactg	12	10	0	5			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152187037C>T	ENST00000368801.2	-	3	7143	c.7068G>A	c.(7066-7068)caG>caA	p.Q2356Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2356					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGATCCATGCTGAGTGTAAC	0.547																																																	0								ENSG00000197915						388	608	534					1																	152187037		2182	4297	6479	HRNR	SO:0001819	synonymous_variant	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7068G>A	1.37:g.152187037C>T		Somatic	0	416	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	135	471	22.24	Q5DT20|Q5U1F4	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q2356	ENST00000368801.2	37	c.7068	CCDS30859.1	1																																																																																			-	NULL		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152187037	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	SNP	0.000	T	T	152187037	C	T	152187037	2	4	121	1	0	0	0	0	0	0	0	1	7361	796	28	2		2	HRNR	1	152187037	Silent	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09	138	152187037	97063584	3	8995			1	69		3	3	183	C		9.09129e-09
HRNR	388697	genome.wustl.edu	37	chr1	152187081	152187081	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagctagactcgtggtgacCaaatccagaagactgacctg	11	10	0	6			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152187081C>G	ENST00000368801.2	-	3	7099	c.7024G>C	c.(7024-7026)Ggt>Cgt	p.G2342R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2342					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTGGTGACCAAATCCAGAA	0.577																																																	0								ENSG00000197915						362	577	505					1																	152187081		2182	4297	6479	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7024G>C	1.37:g.152187081C>G	ENSP00000357791:p.Gly2342Arg	Somatic	0	355	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	109	411	20.96	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2342R	ENST00000368801.2	37	c.7024	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	4.933	0.173348	0.09391	.	.	ENSG00000197915	ENST00000368801	T	0.06849	3.25	3.29	0.209	0.15226	.	.	.	.	.	T	0.05456	0.0144	L	0.55481	1.735	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.21042	-1.0257	9	0.52906	T	0.07	.	0.8888	0.01249	0.1855:0.4101:0.1816:0.2229	.	2342	Q86YZ3	HORN_HUMAN	R	2342	ENSP00000357791:G2342R	ENSP00000357791:G2342R	G	-	1	0	HRNR	150453705	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.277000	0.08502	0.055000	0.16094	0.650000	0.86243	GGT	-	NULL		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152187081	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.001	G	G	152187081	C	G	152187081	3	3	121	1	0	0	0	0	1	0	0	0	7361	594	21	4	1532	4	HRNR	1	152187081	Missense_Mutation	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09	44	152187081	97063540	4	8996			1	69		3	3	183	C		9.09129e-09
CDC42BPA	8476	genome.wustl.edu	37	chr1	227300601	227300601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttttttaatcgctcactaGcctggactagttcctacagt	8	10	1	0			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:227300601G>T	ENST00000366769.3	-	13	2952	c.1661C>A	c.(1660-1662)gCt>gAt	p.A554D	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A554D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A554D|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A554D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A554D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A554D	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCGCTCACTAGCCTGGACTAG	0.408																																																	0								ENSG00000143776						115	117	116					1																	227300601		2203	4300	6503	CDC42BPA	SO:0001583	missense	0			-	HGNC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1661C>A	1.37:g.227300601G>T	ENSP00000355731:p.Ala554Asp	Somatic	0	32	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Missense_Mutation	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.A554D	ENST00000366769.3	37	c.1661	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288730	0.80914	.	.	ENSG00000143776	ENST00000366769;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T	0.67345	-0.24;-0.25;-0.25;-0.25;-0.23;-0.26	5.68	4.76	0.60689	.	0.102782	0.64402	D	0.000002	T	0.73606	0.3608	L	0.54323	1.7	0.36546	D	0.871555	B;P;P	0.39665	0.062;0.624;0.682	B;B;P	0.50490	0.055;0.206;0.642	T	0.79899	-0.1608	10	0.56958	D	0.05	.	16.6952	0.85333	0.0:0.1297:0.8703:0.0	.	554;554;554	F5H5N0;Q5VT25-4;Q5VT25-5	.;.;.	D	554	ENSP00000355731:A554D;ENSP00000335341:A554D;ENSP00000355728:A554D;ENSP00000355726:A554D;ENSP00000443275:A554D;ENSP00000355727:A554D	ENSP00000335341:A554D	A	-	2	0	CDC42BPA	225367224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.380000	0.46344	0.591000	0.81541	GCT	-	NULL		0.408	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	protein_coding	OTTHUMT00000091696.1	G	NM_014826	-		227300601	-1	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	SNP	1.000	T	T	227300601	G	T	227300601	3	4	121	1	0	0	0	0	1	0	0	0	3074	971	34	3	3594	3	CDC42BPA	1	227300601	Missense_Mutation	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09	75113520	227300601	21950020	5	8997											
EXOC8	149371	genome.wustl.edu	37	chr1	231472575	231472575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaatgggttagtggccttgGaagtcacttggggtggccct	15	8	1	0			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:231472575G>T	ENST00000360394.2	-	1	1003	c.917C>A	c.(916-918)tCc>tAc	p.S306Y	SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.S302Y|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	306					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGTGGCCTTGGAAGTCACTTG	0.577																																																	0								ENSG00000116903						106	94	98					1																	231472575		2203	4300	6503	EXOC8	SO:0001583	missense	0			-	HGNC	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.917C>A	1.37:g.231472575G>T	ENSP00000353564:p.Ser306Tyr	Somatic	0	44	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B3KU33|Q5TE82	Missense_Mutation	SNP							superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S306Y	ENST00000360394.2	37	c.917	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912738	0.52439	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78595	-1.19;-1.19	5.55	4.63	0.57726	.	0.294857	0.31636	N	0.007309	T	0.53818	0.1820	N	0.08118	0	0.37831	D	0.928722	P	0.42785	0.79	B	0.28784	0.094	T	0.62407	-0.6861	10	0.37606	T	0.19	-4.1596	14.1217	0.65192	0.0723:0.0:0.9277:0.0	.	306	Q8IYI6	EXOC8_HUMAN	Y	306;302	ENSP00000353564:S306Y;ENSP00000355605:S302Y	ENSP00000353564:S306Y	S	-	2	0	EXOC8	229539198	0.749000	0.28305	0.807000	0.32361	0.968000	0.65278	2.205000	0.42770	1.320000	0.45209	0.561000	0.74099	TCC	-	NULL		0.577	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	protein_coding		G	NM_175876	-		231472575	-1	no_errors	ENST00000360394	ensembl	human	known	74_37	missense	SNP	0.958	T	T	231472575	G	T	231472575	3	4	121	1	0	0	0	0	1	0	0	0	5313	1174	41	3	1264	3	EXOC8	1	231472575	Missense_Mutation	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09	4171974	231472575	17778046	6	8998											
EHD3	30845	genome.wustl.edu	37	chr2	31489522	31489522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgagctgcccaacgaGctgcctgcccacctcctgcc	11	19	0	0			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr2:31489522G>A	ENST00000322054.5	+	6	1845	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	520	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGCCCAACGAGCTGCCTGCCC	0.612																																																	0								ENSG00000013016						66	64	65					2																	31489522		2203	4300	6503	EHD3	SO:0001819	synonymous_variant	0			-	HGNC	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1560G>A	2.37:g.31489522G>A		Somatic	0	50	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.E520	ENST00000322054.5	37	c.1560	CCDS1774.1	2																																																																																			-	smart_EPS15_homology,pfscan_EPS15_homology		0.612	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	protein_coding	OTTHUMT00000216810.1	G	NM_014600	-		31489522	1	no_errors	ENST00000322054	ensembl	human	known	74_37	silent	SNP	1.000	A	A	31489522	G	A	31489522	2	1	121	1	0	0	0	0	0	0	0	1	4981	962	34	2		2	EHD3	2	31489522	Silent	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09		31489522	211709851	7	8999											
KIF1A	547	genome.wustl.edu	37	chr2	241702149	241702151	+	In_Frame_Del	DEL	CTC	CTC	-													ccctcaccttcatcctcgggCtcctcctcctcctcgttcac							TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr2:241702149_241702151delCTC	ENST00000320389.7	-	22	2232_2234	c.2074_2076delGAG	c.(2074-2076)gagdel	p.E692del	KIF1A_ENST00000498729.2_In_Frame_Del_p.E701del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	692					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATCCTCGGGCTCCTCCTCCTCC	0.621																																																	0								ENSG00000130294																																			KIF1A	SO:0001651	inframe_deletion	0				HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2074_2076delGAG	2.37:g.241702158_241702160delCTC	ENSP00000322791:p.Glu692del	Somatic	0	15	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E701in_frame_del	ENST00000320389.7	37	c.2103_2101	CCDS46561.1	2																																																																																			-	NULL		0.621	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	CTC	NM_138483			241702151	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	in_frame_del	DEL	0.996:1.000:1.000	-	-	241702151	CTC	-	241702149	7	5	121	1	0	1	0	1	0	0	0	0	8285	796	28	0	3100	0	KIF1A	2	241702149	In_Frame_Del	DEL	CTC	TCGA-DX-AB2S-01A-11D-A38Z-09	210212627	241702149	1497224	8	9000											
C3orf59	151963	genome.wustl.edu	37	chr3	192516631	192516631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttggcaggaagtctgtcGcaggcccagagcatcatgct	13	10	2	1			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr3:192516631G>A	ENST00000392452.2	-	2	1340	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	340							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GAAGTCTGTCGCAGGCCCAGA	0.537																																																	0								ENSG00000180611						56	53	54					3																	192516631		2203	4300	6503	MB21D2	SO:0001819	synonymous_variant	0			-	HGNC	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1020C>T	3.37:g.192516631G>A		Somatic	0	22	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q86VD8	Silent	SNP							pfam_Mab-21_dom	p.C340	ENST00000392452.2	37	c.1020	CCDS3302.2	3																																																																																			-	pfam_Mab-21_dom		0.537	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	protein_coding	OTTHUMT00000341543.1	G	NM_178496	-		192516631	-1	no_errors	ENST00000392452	ensembl	human	known	74_37	silent	SNP	0.983	A	A	192516631	G	A	192516631	2	1	121	1	0	0	0	0	0	0	0	1	2239	1079	38	1		1	C3orf59	3	192516631	Silent	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09		192516631	5505799	9	9001											
QDPR	5860	genome.wustl.edu	37	chr4	17510934	17510934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtctgtcattttaacaAtgatgctagcgctggcctct	9	10	3	1			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr4:17510934A>G	ENST00000281243.5	-	2	337	c.158T>C	c.(157-159)aTt>aCt	p.I53T	QDPR_ENST00000428702.2_Intron|QDPR_ENST00000508623.1_Missense_Mutation_p.I53T|QDPR_ENST00000513615.1_Missense_Mutation_p.I53T	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	53					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CATTTTAACAATGATGCTAGC	0.507																																																	0								ENSG00000151552						125	107	113					4																	17510934		2203	4300	6503	QDPR	SO:0001583	missense	0			-	HGNC	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.158T>C	4.37:g.17510934A>G	ENSP00000281243:p.Ile53Thr	Somatic	0	56	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	66	9.59	A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR	p.I53T	ENST00000281243.5	37	c.158	CCDS3421.1	4	.	.	.	.	.	.	.	.	.	.	A	5.272	0.235552	0.10023	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.94613	-3.47;-3.47;-3.47	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.556427	0.18452	N	0.140818	D	0.89037	0.6601	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72887	-0.4156	10	0.11485	T	0.65	-17.5901	15.3324	0.74223	1.0:0.0:0.0:0.0	.	53	P09417	DHPR_HUMAN	T	53	ENSP00000422759:I53T;ENSP00000281243:I53T;ENSP00000426377:I53T	ENSP00000281243:I53T	I	-	2	0	QDPR	17120032	0.352000	0.24895	0.003000	0.11579	0.002000	0.02628	5.020000	0.64066	2.091000	0.63221	0.533000	0.62120	ATT	-	pfam_DH_sc/Rdtase_SDR		0.507	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	protein_coding	OTTHUMT00000250372.1	A	NM_000320	-		17510934	-1	no_errors	ENST00000281243	ensembl	human	known	74_37	missense	SNP	0.022	G	G	17510934	A	G	17510934	3	3	121	1	0	0	0	0	1	0	0	0	12880	101	4	5	600	5	QDPR	4	17510934	Missense_Mutation	SNP	A	TCGA-DX-AB2S-01A-11D-A38Z-09		17510934	173643342	10	9002											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-													ataaccccggcttcgaggccGaggaggaggaggaggaggtg							TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0								ENSG00000118762			18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				PKD2	SO:0001651	inframe_deletion	0				HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del	Somatic	0	32	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL							pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			-	NULL		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	GAG	NM_000297			88929176	1	no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	121	1	0	1	0	1	0	0	0	0	11968	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-DX-AB2S-01A-11D-A38Z-09	71418240	88929174	102225102	11	9003											
TRIO	7204	genome.wustl.edu	37	chr5	14487871	14487871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggccctccctgcctccCcctggcgcggcccccgaggc	12	24	0	0			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr5:14487871C>T	ENST00000344204.4	+	48	7158	c.7134C>T	c.(7132-7134)ccC>ccT	p.P2378P	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2378					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)					CCCTGCCTCCCCCTggcgcgg	0.756																																																	0								ENSG00000038382						4	5	5					5																	14487871		1980	3966	5946	TRIO	SO:0001819	synonymous_variant	0			-	HGNC	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.7134C>T	5.37:g.14487871C>T		Somatic	0	9	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P2378	ENST00000344204.4	37	c.7134	CCDS3883.1	5																																																																																			-	NULL		0.756	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	C	NM_007118	-		14487871	1	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	SNP	0.171	T	T	14487871	C	T	14487871	2	4	121	1	0	0	0	0	0	0	0	1	16559	610	22	2		2	TRIO	5	14487871	Silent	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09		14487871	166427389	12	9004											
MSH3	4437	genome.wustl.edu	37	chr5	79950700	79950717	+	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC	-													accaggtggaccctggcgctGcagcggctgcagcggccgca					rs530525176|rs2431220|rs2405875|rs144776112|rs201874762|rs201906899	byFrequency	TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr5:79950700_79950717delGCAGCGGCTGCAGCGGCC	ENST00000265081.6	+	1	234_251	c.154_171delGCAGCGGCTGCAGCGGCC	c.(154-171)gcagcggctgcagcggccdel	p.AAAAAA52del	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	52	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCTGGCGCTgcagcggctgcagcggccgcagcggccg	0.693								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	1153,2933		197,759,1087					,		0.2		dbSNP_100	12	2199,5723		382,1435,2144	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	579,2194,3231	A1A1,A1R,RR		27.7581,28.2183,27.9147	,	,		3352,8656				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.154_171delGCAGCGGCTGCAGCGGCC	5.37:g.79950700_79950717delGCAGCGGCTGCAGCGGCC	ENSP00000265081:p.Ala52_Ala57del	Somatic					0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAA55in_frame_del	ENST00000265081.6	37	c.154_171	CCDS34195.1	5																																																																																			-	NULL		0.693	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCAGCGGCTGCAGCGGCC	NM_002439			79950717	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-	-	79950717	GCAGCGGCTGCAGCGGCC	-	79950700	7	5	121	1	0	1	0	1	0	0	0	0	9873	1319	46	0	156	0	MSH3	5	79950700	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	TCGA-DX-AB2S-01A-11D-A38Z-09	65462829	79950700	100964560	13	9005											
PCLO	27445	genome.wustl.edu	37	chr7	82581481	82581481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccctgcggttaaatcaaCgggtttttcatcttctatta	6	10	5	0			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr7:82581481C>T	ENST00000333891.9	-	5	9125	c.8788G>A	c.(8788-8790)Gtt>Att	p.V2930I	PCLO_ENST00000423517.2_Missense_Mutation_p.V2930I|PCLO_ENST00000437081.1_5'Flank	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						GTTAAATCAACGGGTTTTTCA	0.433																																																	0								ENSG00000186472						120	120	120					7																	82581481		1906	4122	6028	PCLO	SO:0001583	missense	0			-	HGNC	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.8788G>A	7.37:g.82581481C>T	ENSP00000334319:p.Val2930Ile	Somatic	0	87	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	79	8.14		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V2930I	ENST00000333891.9	37	c.8788	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402034	0.25291	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20738	2.05;2.08	5.67	5.67	0.87782	.	.	.	.	.	T	0.47525	0.1450	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.40515	-0.9559	9	0.87932	D	0	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	2930;2930	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2861;2930;2930	ENSP00000334319:V2930I;ENSP00000388393:V2930I	ENSP00000334319:V2930I	V	-	1	0	PCLO	82419417	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.044000	0.71012	2.660000	0.90430	0.557000	0.71058	GTT	-	NULL		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82581481	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82581481	C	T	82581481	3	4	121	1	0	0	0	0	1	0	0	0	11585	536	19	1	6741	1	PCLO	7	82581481	Missense_Mutation	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09		82581481	76557182	14	9006											
LAMB1	3912	genome.wustl.edu	37	chr7	107577718	107577718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtaacatctttaatcaGtttcctgtaaagagaaagtt	6	6	3	1			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr7:107577718G>A	ENST00000222399.6	-	26	3996	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Silent_p.L1280L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1256	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCTTTAATCAGTTTCCTGTAA	0.343																																																	0								ENSG00000091136						161	148	152					7																	107577718		2203	4300	6503	LAMB1	SO:0001819	synonymous_variant	0			-	HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3766C>T	7.37:g.107577718G>A		Somatic	0	60	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	72	16.28	Q14D91	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1256	ENST00000222399.6	37	c.3766	CCDS5750.1	7																																																																																			-	superfamily_t-SNARE		0.343	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	G	NM_002291	-		107577718	-1	no_errors	ENST00000222399	ensembl	human	known	74_37	silent	SNP	1.000	A	A	107577718	G	A	107577718	2	1	121	1	0	0	0	0	0	0	0	1	8612	1020	36	2		2	LAMB1	7	107577718	Silent	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09	24996237	107577718	51560945	15	9007											
ZNF251	90987	genome.wustl.edu	37	chr8	145948119	145948119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatgatccgatgttgaAtaagagttgagcttcgactg	12	5	0	5			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr8:145948119A>G	ENST00000292562.7	-	5	1201	c.926T>C	c.(925-927)aTt>aCt	p.I309T	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	309					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	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)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCGATGTTGAATAAGAGTTGA	0.463																																																	0								ENSG00000198169						46	51	49					8																	145948119		2147	4280	6427	ZNF251	SO:0001583	missense	0			-	HGNC	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.926T>C	8.37:g.145948119A>G	ENSP00000292562:p.Ile309Thr	Somatic	0	59	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q2M219	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I309T	ENST00000292562.7	37	c.926	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	A	4.466	0.086369	0.08583	.	.	ENSG00000198169	ENST00000292562	T	0.37584	1.19	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16257	0.0391	N	0.11927	0.2	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.30327	-0.9982	9	0.06757	T	0.87	-11.5111	5.9532	0.19259	0.8715:0.0:0.1285:0.0	.	309	Q9BRH9	ZN251_HUMAN	T	309	ENSP00000292562:I309T	ENSP00000292562:I309T	I	-	2	0	ZNF251	145918928	0.000000	0.05858	0.607000	0.28956	0.992000	0.81027	0.437000	0.21543	1.362000	0.46000	0.460000	0.39030	ATT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	protein_coding	OTTHUMT00000382541.1	A	NM_138367	-		145948119	-1	no_errors	ENST00000292562	ensembl	human	known	74_37	missense	SNP	0.000	G	G	145948119	A	G	145948119	3	3	121	1	0	0	0	0	1	0	0	0	17803	101	4	5	1093	5	ZNF251	8	145948119	Missense_Mutation	SNP	A	TCGA-DX-AB2S-01A-11D-A38Z-09		145948119	415903	16	9008											
OSBPL5	114879	genome.wustl.edu	37	chr11	3121429	3121429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtaagggtgtaatcctcgGctcggttcaggaaggtgagc	16	7	1	1			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr11:3121429G>T	ENST00000263650.7	-	14	1739	c.1580C>A	c.(1579-1581)gCc>gAc	p.A527D	OSBPL5_ENST00000525498.1_Missense_Mutation_p.A438D|OSBPL5_ENST00000348039.5_Missense_Mutation_p.A459D|OSBPL5_ENST00000542243.1_Missense_Mutation_p.A158D|OSBPL5_ENST00000389989.3_Missense_Mutation_p.A459D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	527					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTAATCCTCGGCTCGGTTCAG	0.612																																																	0								ENSG00000021762						144	113	123					11																	3121429		2202	4298	6500	OSBPL5	SO:0001583	missense	0			-	HGNC	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1580C>A	11.37:g.3121429G>T	ENSP00000263650:p.Ala527Asp	Somatic	0	33	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A527D	ENST00000263650.7	37	c.1580	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	g	7.256	0.604143	0.14002	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	3.59	-1.45	0.08828	.	0.444286	0.21795	N	0.069014	T	0.08403	0.0209	N	0.01464	-0.85	0.23162	N	0.998195	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.11329	0.002;0.004;0.006;0.004	T	0.31503	-0.9941	10	0.42905	T	0.14	2.9866	10.2277	0.43236	0.0:0.6512:0.2251:0.1238	.	438;488;459;527	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	D	527;459;80;438;158;459;146	ENSP00000263650:A527D;ENSP00000374639:A459D;ENSP00000431412:A80D;ENSP00000433342:A438D;ENSP00000441551:A158D;ENSP00000302872:A459D	ENSP00000263650:A527D	A	-	2	0	OSBPL5	3078005	0.001000	0.12720	0.004000	0.12327	0.114000	0.19823	0.186000	0.16978	-0.047000	0.13423	0.457000	0.33378	GCC	-	pfam_Oxysterol-bd		0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	protein_coding	OTTHUMT00000032332.2	G		-		3121429	-1	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	SNP	0.447	T	T	3121429	G	T	3121429	3	4	121	1	0	0	0	0	1	0	0	0	11282	1203	42	3	1095	3	OSBPL5	11	3121429	Missense_Mutation	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09		3121429	131885087	17	9009											
OR2AG1	144125	genome.wustl.edu	37	chr11	6806992	6806992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcccttgtcacctgcTcttcccacctgactgtggtt	8	14	2	2			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr11:6806992T>C	ENST00000307401.4	+	1	745	c.724T>C	c.(724-726)Tct>Cct	p.S242P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	242						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)		TGTCACCTGCTCTTCCCACCT	0.493																																																	0								ENSG00000170803						185	162	169					11																	6806992		2201	4296	6497	OR2AG1	SO:0001583	missense	0			-	HGNC	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.724T>C	11.37:g.6806992T>C	ENSP00000307447:p.Ser242Pro	Somatic	0	82	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	70	10.26	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S242P	ENST00000307401.4	37	c.724	CCDS31414.1	11	.	.	.	.	.	.	.	.	.	.	T	16.43	3.119959	0.56613	.	.	ENSG00000170803	ENST00000307401	T	0.38722	1.12	4.23	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000156	T	0.66528	0.2798	M	0.93328	3.405	0.30419	N	0.778329	D	0.76494	0.999	D	0.74674	0.984	T	0.66814	-0.5828	10	0.87932	D	0	.	4.9213	0.13871	0.1871:0.0:0.1943:0.6186	.	242	Q9H205	O2AG1_HUMAN	P	242	ENSP00000307447:S242P	ENSP00000307447:S242P	S	+	1	0	OR2AG1	6763568	0.000000	0.05858	0.994000	0.49952	0.991000	0.79684	0.014000	0.13333	0.746000	0.32786	0.528000	0.53228	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.493	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	protein_coding	OTTHUMT00000385980.1	T	NM_001004489	-		6806992	1	no_errors	ENST00000307401	ensembl	human	known	74_37	missense	SNP	0.963	C	C	6806992	T	C	6806992	3	2	121	1	0	0	0	0	1	0	0	0	10986	1551	54	5	726	5	OR2AG1	11	6806992	Missense_Mutation	SNP	T	TCGA-DX-AB2S-01A-11D-A38Z-09	3685563	6806992	128199524	18	9010											
LRIG3	121227	genome.wustl.edu	37	chr12	59281683	59281683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccaaggaagcttgaatcatCtaaccttgataagtgattga	9	7	2	4			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr12:59281683C>G	ENST00000320743.3	-	8	1265	c.979G>C	c.(979-981)Gat>Cat	p.D327H	LRIG3_ENST00000379141.4_Missense_Mutation_p.D267H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	327					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			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)			CTTGAATCATCTAACCTTGAT	0.378			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0								ENSG00000139263						103	102	103					12																	59281683		2203	4300	6503	LRIG3	SO:0001583	missense	0			-	HGNC	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.979G>C	12.37:g.59281683C>G	ENSP00000326759:p.Asp327His	Somatic	0	40	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	111	8.26	Q6UXL7|Q8NC72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D327H	ENST00000320743.3	37	c.979	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890427	0.72524	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.25749	1.78;1.78	5.86	5.86	0.93980	.	0.000000	0.38326	N	0.001725	T	0.40839	0.1133	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.71674	0.985;0.998	P;D	0.69654	0.881;0.965	T	0.02326	-1.1176	9	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	267;327	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	267;327	ENSP00000368436:D267H;ENSP00000326759:D327H	.	D	-	1	0	LRIG3	57567950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.050000	0.71063	2.937000	0.99478	0.650000	0.86243	GAT	-	smart_Leu-rich_rpt_typical-subtyp		0.378	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	protein_coding	OTTHUMT00000406623.1	C	NM_153377	-		59281683	-1	no_errors	ENST00000320743	ensembl	human	known	74_37	missense	SNP	1.000	G	G	59281683	C	G	59281683	3	3	121	1	0	0	0	0	1	0	0	0	8948	913	32	4	2428	4	LRIG3	12	59281683	Missense_Mutation	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09		59281683	74570212	19	9011											
DCAF5	8816	genome.wustl.edu	37	chr14	69520843	69520843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagtaggccaccacctccaGctcccccaagttctgcccgt	8	18	1	1			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr14:69520843G>T	ENST00000341516.5	-	9	2707	c.2560C>A	c.(2560-2562)Ctg>Atg	p.L854M	DCAF5_ENST00000557386.1_Missense_Mutation_p.L853M|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.L772M|DCAF5_ENST00000554215.1_Missense_Mutation_p.L772M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	854					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACCACCTCCAGCTCCCCCAAG	0.562																																																	0								ENSG00000139990						122	108	113					14																	69520843		2203	4300	6503	DCAF5	SO:0001583	missense	0			-	HGNC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2560C>A	14.37:g.69520843G>T	ENSP00000341351:p.Leu854Met	Somatic	0	30	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L854M	ENST00000341516.5	37	c.2560	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	G	8.663	0.900980	0.17760	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.68765	-0.35;-0.18;-0.18;0.27	5.09	4.12	0.48240	.	0.556295	0.15681	N	0.249906	T	0.57242	0.2040	N	0.19112	0.55	0.80722	D	1	P;P	0.42620	0.785;0.679	P;B	0.45138	0.471;0.28	T	0.58020	-0.7710	10	0.40728	T	0.16	-3.1001	14.1372	0.65295	0.0833:0.0:0.9167:0.0	.	853;854	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	854;772;772;853	ENSP00000341351:L854M;ENSP00000451551:L772M;ENSP00000452052:L772M;ENSP00000451845:L853M	ENSP00000341351:L854M	L	-	1	2	DCAF5	68590596	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	4.812000	0.62613	2.648000	0.89879	0.561000	0.74099	CTG	-	NULL		0.562	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	protein_coding	OTTHUMT00000414806.2	G	NM_003861	-		69520843	-1	no_errors	ENST00000341516	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69520843	G	T	69520843	3	4	121	1	0	0	0	0	1	0	0	0	4275	962	34	3	272	3	DCAF5	14	69520843	Missense_Mutation	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09		69520843	37828697	20	9012											
CCDC114	93233	genome.wustl.edu	37	chr19	48807309	48807309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtgcaagatctgccGctgcaggacctgcgcctcca	11	16	1	1			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr19:48807309G>A	ENST00000315396.7	-	7	1325	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	215					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGATCTGCCGCTGCAGGACC	0.642																																																	0								ENSG00000105479						81	79	80					19																	48807309		2203	4300	6503	CCDC114	SO:0001583	missense	0			-	HGNC	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.643C>T	19.37:g.48807309G>A	ENSP00000318429:p.Arg215Trp	Somatic	0	33	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP							NULL	p.R215W	ENST00000315396.7	37	c.643	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626840	0.46840	.	.	ENSG00000105479	ENST00000315396	T	0.38240	1.15	3.26	2.09	0.27110	.	.	.	.	.	T	0.54967	0.1891	M	0.79011	2.435	0.42996	D	0.994504	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.995	T	0.58825	-0.7568	9	0.87932	D	0	-12.03	7.0347	0.24987	0.0:0.0:0.7294:0.2706	.	8;215;215	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	W	215	ENSP00000318429:R215W	ENSP00000318429:R215W	R	-	1	2	CCDC114	53499121	1.000000	0.71417	0.996000	0.52242	0.294000	0.27393	1.515000	0.35845	1.837000	0.53436	0.591000	0.81541	CGG	-	NULL		0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	protein_coding	OTTHUMT00000343207.1	G	NM_144577	-		48807309	-1	no_errors	ENST00000315396	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48807309	G	A	48807309	3	1	121	1	0	0	0	0	1	0	0	0	2753	1086	38	1	1401	1	CCDC114	19	48807309	Missense_Mutation	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09		48807309	10321674	21	9013											
GNAZ	2781	genome.wustl.edu	37	chr22	23465451	23465451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacacgtacgaggaggccGctgtctacatccagcggcag	13	12	1	1	rs545366122		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr22:23465451G>A	ENST00000248996.4	+	3	1567	c.901G>A	c.(901-903)Gct>Act	p.A301T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	301					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGAGGAGGCCGCTGTCTACAT	0.567																																																	0								ENSG00000128266						113	91	99					22																	23465451		2203	4300	6503	GNAZ	SO:0001583	missense	0			-	HGNC		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.901G>A	22.37:g.23465451G>A	ENSP00000248996:p.Ala301Thr	Somatic	0	28	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2R6C1|Q4QRJ6	Missense_Mutation	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.A301T	ENST00000248996.4	37	c.901	CCDS13804.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.682893	0.96774	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88741	-2.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	L	0.55017	1.72	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93563	0.6897	10	0.72032	D	0.01	.	17.9627	0.89090	0.0:0.0:1.0:0.0	.	301	P19086	GNAZ_HUMAN	T	301;249	ENSP00000248996:A301T	ENSP00000248996:A301T	A	+	1	0	GNAZ	21795451	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.596000	0.98267	2.580000	0.87095	0.655000	0.94253	GCT	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I		0.567	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	protein_coding	OTTHUMT00000319073.1	G	NM_002073	-		23465451	1	no_errors	ENST00000248996	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23465451	G	A	23465451	3	1	121	1	0	0	0	0	1	0	0	0	6516	1087	38	1	907	1	GNAZ	22	23465451	Missense_Mutation	SNP	G	TCGA-DX-AB2S-01A-11D-A38Z-09		23465451	27839115	22	9014											
MED12	9968	genome.wustl.edu	37	chrX	70352782	70352782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgcgagggactccttacCtccctctacagccaggtgca	9	16	1	0			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chrX:70352782C>T	ENST00000374080.3	+	32	4535	c.4503C>T	c.(4501-4503)acC>acT	p.T1501T	MED12_ENST00000333646.6_Silent_p.T1501T|MED12_ENST00000374102.1_Silent_p.T1501T			Q93074	MED12_HUMAN	mediator complex subunit 12	1501					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)					GACTCCTTACCTCCCTCTACA	0.547			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0								ENSG00000184634						41	38	39					X																	70352782		2004	4157	6161	MED12	SO:0001819	synonymous_variant	0			-	HGNC	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.4503C>T	X.37:g.70352782C>T		Somatic	0	32	0		0.704077503055997				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.T1501	ENST00000374080.3	37	c.4503	CCDS43970.1	X																																																																																			-	NULL		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	C	NM_005120	-		70352782	1	no_errors	ENST00000333646	ensembl	human	known	74_37	silent	SNP	1.000	T	T	70352782	C	T	70352782	2	4	121	1	0	0	0	0	0	0	0	1	9430	668	24	2		2	MED12	23	70352782	Silent	SNP	C	TCGA-DX-AB2S-01A-11D-A38Z-09		70352782	84917778	23	9015											
ELTD1	64123	genome.wustl.edu	37	chr1	79403555	79403555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggatatccttaaagTagcttgttcaacagtgtgca	10	8	2	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr1:79403555T>C	ENST00000370742.3	-	6	760	c.697A>G	c.(697-699)Act>Gct	p.T233A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	233					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATCCTTAAAGTAGCTTGTTCA	0.348																																																	0								ENSG00000162618						182	170	173					1																	79403555		1856	4100	5956	ELTD1	SO:0001583	missense	0			-	HGNC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.697A>G	1.37:g.79403555T>C	ENSP00000359778:p.Thr233Ala	Somatic	0	42	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	70	33.96	B1AR71|Q5KU34	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T233A	ENST00000370742.3	37	c.697	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.661744	0.00772	.	.	ENSG00000162618	ENST00000370742	T	0.05649	3.41	5.79	5.79	0.91817	Domain of unknown function DUF3497 (1);	0.203205	0.52532	D	0.000061	T	0.01905	0.0060	L	0.34521	1.04	0.20074	N	0.999939	B	0.10296	0.003	B	0.15052	0.012	T	0.41574	-0.9501	9	.	.	.	.	10.4746	0.44657	0.0:0.0723:0.0:0.9277	.	233	Q9HBW9	ELTD1_HUMAN	A	233	ENSP00000359778:T233A	.	T	-	1	0	ELTD1	79176143	0.518000	0.26234	0.701000	0.30321	0.074000	0.17049	1.443000	0.35057	2.200000	0.70718	0.455000	0.32223	ACT	-	pfam_DUF3497		0.348	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	protein_coding	OTTHUMT00000026859.1	T	NM_022159	-		79403555	-1	no_errors	ENST00000370742	ensembl	human	known	74_37	missense	SNP	0.186	C	C	79403555	T	C	79403555	3	2	122	1	0	0	0	0	1	0	0	0	5086	1638	57	5	1415	5	ELTD1	1	79403555	Missense_Mutation	SNP	T	TCGA-DX-AB2T-01A-11D-A387-09		79403555	169847066	1	9016											
C3orf39	84892	genome.wustl.edu	37	chr3	43121207	43121207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacaccagcacatctgCaaagggtcccaggaggatct	11	12	2	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr3:43121207C>A	ENST00000344697.2	-	2	2062	c.1717G>T	c.(1717-1719)Gca>Tca	p.A573S	POMGNT2_ENST00000441964.1_Missense_Mutation_p.A573S	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	573	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										AGCACATCTGCAAAGGGTCCC	0.587																																																	0								ENSG00000144647						71	63	65					3																	43121207		2203	4300	6503	POMGNT2	SO:0001583	missense	0			-	HGNC	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1717G>T	3.37:g.43121207C>A	ENSP00000344125:p.Ala573Ser	Somatic	0	47	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KWC3|Q96SY3	Missense_Mutation	SNP							pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.A573S	ENST00000344697.2	37	c.1717	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973768	0.74246	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.16457	2.34;2.34	5.57	5.57	0.84162	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.00970	-1.1496	10	0.34782	T	0.22	-12.7729	18.5282	0.90981	0.0:1.0:0.0:0.0	.	573	Q8NAT1	AGO61_HUMAN	S	573	ENSP00000408992:A573S;ENSP00000344125:A573S	ENSP00000344125:A573S	A	-	1	0	C3orf39	43096211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.085000	0.71343	2.618000	0.88619	0.655000	0.94253	GCA	-	superfamily_Fibronectin_type3		0.587	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT2	protein_coding	OTTHUMT00000256643.1	C	NM_032806	-		43121207	-1	no_errors	ENST00000344697	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43121207	C	A	43121207	3	1	122	1	0	0	0	0	1	0	0	0	2231	710	25	3	29	3	C3orf39	3	43121207	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09		43121207	154901223	2	9017											
CCR1	1230	genome.wustl.edu	37	chr3	46245463	46245463	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctcgctgtacaagcctgtGtaataaaacccagagaggat	9	9	1	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr3:46245463G>T	ENST00000296140.3	-	2	467	c.342C>A	c.(340-342)taC>taA	p.Y114*	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	114					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAAGCCTGTGTAATAAAACC	0.507																																																	0								ENSG00000163823						122	121	121					3																	46245463		2203	4300	6503	CCR1	SO:0001587	stop_gained	0			-	HGNC		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.342C>A	3.37:g.46245463G>T	ENSP00000296140:p.Tyr114*	Somatic	0	32	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q86VA9	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.Y114*	ENST00000296140.3	37	c.342	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805450	0.70682	.	.	ENSG00000163823	ENST00000296140	.	.	.	4.86	3.72	0.42706	.	0.379777	0.22729	N	0.056345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	7.1293	0.25490	0.2742:0.0:0.7258:0.0	.	.	.	.	X	114	.	ENSP00000296140:Y114X	Y	-	3	2	CCR1	46220467	0.000000	0.05858	0.094000	0.20943	0.869000	0.49853	0.145000	0.16157	2.412000	0.81896	0.655000	0.94253	TAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.507	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	protein_coding	OTTHUMT00000257325.2	G	NM_001295	-		46245463	-1	no_errors	ENST00000296140	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	46245463	G	T	46245463	4	4	122	1	0	0	0	0	0	1	0	0	2941	1372	48	3	729	3	CCR1	3	46245463	Nonsense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	3124256	46245463	151776967	3	9018											
NCKIPSD	51517	genome.wustl.edu	37	chr3	48716029	48716029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaggtctgcgatgtgccGcacagtgatgtcaatgagag	14	8	2	3	rs36059909	byFrequency	TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr3:48716029G>A	ENST00000294129.2	-	12	2052	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R638W|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R645W	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	645					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCGATGTGCCGCACAGTGATG	0.572																																																	0								ENSG00000213672						95	85	88					3																	48716029		2203	4300	6503	NCKIPSD	SO:0001583	missense	0			-	HGNC	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1933C>T	3.37:g.48716029G>A	ENSP00000294129:p.Arg645Trp	Somatic	0	42	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP							pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R645W	ENST00000294129.2	37	c.1933	CCDS2776.1	3	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335994	0.81801	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.37	5.37	0.77165	Domain of unknown function DUF2013 (1);	0.000000	0.64402	U	0.000002	D	0.85274	0.5659	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87494	0.2429	10	0.87932	D	0	.	14.7923	0.69851	0.0:0.0:0.8551:0.1448	rs36059909	645;638	Q9NZQ3;Q9NZQ3-3	SPN90_HUMAN;.	W	645;638;645;101	ENSP00000342621:R645W;ENSP00000389059:R638W;ENSP00000294129:R645W;ENSP00000396683:R101W	ENSP00000294129:R645W	R	-	1	2	NCKIPSD	48691033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.190000	0.72057	2.499000	0.84300	0.563000	0.77884	CGG	-	pfam_DUF2013		0.572	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	protein_coding	OTTHUMT00000257520.1	G	NM_016453	rs36059909		48716029	-1	no_errors	ENST00000294129	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48716029	G	A	48716029	3	1	122	1	0	0	0	0	1	0	0	0	10227	1086	38	1	243	1	NCKIPSD	3	48716029	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	2470566	48716029	149306401	4	9019											
SLC9A10	285335	genome.wustl.edu	37	chr3	111887771	111887771	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctctataagtttttcGtaacagacaatcttctacag	7	8	3	1	rs202229232		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr3:111887771G>A	ENST00000305815.5	-	25	3442	c.3190C>T	c.(3190-3192)Cga>Tga	p.R1064*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.R1016*	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TAAGTTTTTCGTAACAGACAA	0.318													G|||	1	0.000199681	0	0	5008	,	,		20735	0.001		0	False		,,,				2504	0																0								ENSG00000172139	G	stop/ARG	3,4401	6.2+/-15.9	0,3,2199	127	133	131		3190	6.1	0.1	3		131	0,8598		0,0,4299	yes	stop-gained	SLC9A10	NM_183061.1		0,3,6498	AA,AG,GG		0.0,0.0681,0.0231		1064/1178	111887771	3,12999	2202	4299	6501	SLC9C1	SO:0001587	stop_gained	0			-	HGNC	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3190C>T	3.37:g.111887771G>A	ENSP00000306627:p.Arg1064*	Somatic	0	29	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q6ZRP4|Q7RTP2	Nonsense_Mutation	SNP							pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R1064*	ENST00000305815.5	37	c.3190	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.284194	0.98186	6.81E-4	0.0	ENSG00000172139	ENST00000305815;ENST00000487372	.	.	.	6.06	6.06	0.98353	.	0.677608	0.13656	N	0.371958	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.5387	16.1398	0.81515	0.0:0.0:1.0:0.0	.	.	.	.	X	1064;1016	.	ENSP00000306627:R1064X	R	-	1	2	SLC9A10	113370461	0.449000	0.25689	0.124000	0.21820	0.021000	0.10359	2.673000	0.46858	2.880000	0.98712	0.650000	0.86243	CGA	-	NULL		0.318	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	protein_coding	OTTHUMT00000354066.1	G	NM_183061	rs202229232		111887771	-1	no_errors	ENST00000305815	ensembl	human	known	74_37	nonsense	SNP	0.631	A	A	111887771	G	A	111887771	4	1	122	1	0	0	0	0	0	1	0	0	14718	1153	40	1	363	1	SLC9A10	3	111887771	Nonsense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	63171742	111887771	86134659	5	9020											
KBTBD12	166348	genome.wustl.edu	37	chr3	127642390	127642390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatatcagcactttgccgaGgtgagcttacatgaagaaat	9	7	1	3			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr3:127642390G>T	ENST00000405109.1	+	2	953	c.486G>T	c.(484-486)gaG>gaT	p.E162D	KBTBD12_ENST00000405256.1_Missense_Mutation_p.E162D|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_5'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	162	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACTTTGCCGAGGTGAGCTTAC	0.353																																																	0								ENSG00000187715						41	38	39					3																	127642390		1837	4092	5929	KBTBD12	SO:0001583	missense	0			-	HGNC		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.486G>T	3.37:g.127642390G>T	ENSP00000385957:p.Glu162Asp	Somatic	0	24	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	B5MCC6|Q6ZRK1	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E162D	ENST00000405109.1	37	c.486	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052186	0.55218	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.70749	-0.51;-0.51	5.75	3.98	0.46160	BTB/Kelch-associated (2);	.	.	.	.	T	0.72153	0.3425	L	0.56340	1.77	0.39633	D	0.970203	D	0.56968	0.978	P	0.54815	0.761	T	0.68492	-0.5394	9	0.20519	T	0.43	.	10.4461	0.44495	0.2082:0.0:0.7918:0.0	.	162	Q3ZCT8	KBTBC_HUMAN	D	162	ENSP00000385957:E162D;ENSP00000385879:E162D	ENSP00000385957:E162D	E	+	3	2	KBTBD12	129125080	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	1.222000	0.32515	0.795000	0.33922	0.460000	0.39030	GAG	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.353	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	protein_coding	OTTHUMT00000318682.1	G	NM_207335	-		127642390	1	no_errors	ENST00000405109	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127642390	G	T	127642390	3	4	122	1	0	0	0	0	1	0	0	0	7993	991	35	3	488	3	KBTBD12	3	127642390	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	15754619	127642390	70380040	6	9021											
XRN1	54464	genome.wustl.edu	37	chr3	142051879	142051879	+	Frame_Shift_Del	DEL	T	T	-													gatgagatgactgtacttcaTtttctttggagatattcaaa							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr3:142051879delT	ENST00000264951.4	-	35	4109	c.3992delA	c.(3991-3993)aatfs	p.N1331fs	XRN1_ENST00000392981.2_Frame_Shift_Del_p.N1331fs	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1331					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTGTACTTCATTTTCTTTGGA	0.363																																																	0								ENSG00000114127						108	100	103					3																	142051879		2203	4300	6503	XRN1	SO:0001589	frameshift_variant	0				HGNC	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3992delA	3.37:g.142051879delT	ENSP00000264951:p.Asn1331fs	Somatic	0	28	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	56	23.29	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Frame_Shift_Del	DEL							pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.N1331fs	ENST00000264951.4	37	c.3992	CCDS3123.1	3																																																																																			-	pirsf_5_3_exoribonuclease_1		0.363	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	protein_coding	OTTHUMT00000354087.2	T	NM_019001			142051879	-1	no_errors	ENST00000264951	ensembl	human	known	74_37	frame_shift_del	DEL	0.876	-	-	142051879	T	-	142051879	7	5	122	1	0	1	0	1	0	0	0	0	17466	1493	52	0	1160	0	XRN1	3	142051879	Frame_Shift_Del	DEL	T	TCGA-DX-AB2T-01A-11D-A387-09	14409489	142051879	55970551	7	9022											
HNRNPD	3184	genome.wustl.edu	37	chr4	83278573	83278573	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcttattggtcttgttgtCcatggggagctctatggatt	11	8	3	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr4:83278573C>G	ENST00000313899.7	-	5	923	c.646G>C	c.(646-648)Gac>Cac	p.D216H	HNRNPD_ENST00000543098.1_Missense_Mutation_p.D164H|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000541060.1_Missense_Mutation_p.D62H|HNRNPD_ENST00000353341.4_Missense_Mutation_p.D216H|HNRNPD_ENST00000352301.4_Missense_Mutation_p.D197H	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	216	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						GTCTTGTTGTCCATGGGGAGC	0.368																																																	0								ENSG00000138668						91	87	88					4																	83278573		2203	4300	6503	HNRNPD	SO:0001583	missense	0			-	HGNC	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.646G>C	4.37:g.83278573C>G	ENSP00000313199:p.Asp216His	Somatic	0	79	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	85	17.48	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP							pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.D216H	ENST00000313899.7	37	c.646	CCDS3592.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.98|16.98	3.270273|3.270273	0.59540|0.59540	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010|ENST00000514671	D;D;D;D;D;D;D|.	0.92699|.	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.043104|.	0.85682|.	D|.	0.000000|.	D|D	0.83741|0.83741	0.5320|0.5320	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.43938|.	0.822;0.822;0.521;0.708|.	P;P;B;P|.	0.52793|.	0.709;0.709;0.379;0.513|.	D|D	0.83822|0.83822	0.0247|0.0247	10|5	0.87932|.	D|.	0|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	197;216;197;216|.	Q14103-4;Q14103-3;Q14103-2;Q14103|.	.;.;.;HNRPD_HUMAN|.	H|A	216;216;197;164;191;62;149;216|119	ENSP00000313199:D216H;ENSP00000313327:D216H;ENSP00000305860:D197H;ENSP00000439380:D164H;ENSP00000437416:D62H;ENSP00000420926:D149H;ENSP00000421952:D216H|.	ENSP00000307544:D191H|.	D|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83497597|83497597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAC|GGA	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.368	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	protein_coding	OTTHUMT00000252630.2	C	NM_031370	-		83278573	-1	no_errors	ENST00000313899	ensembl	human	known	74_37	missense	SNP	1.000	G	G	83278573	C	G	83278573	3	3	122	1	0	0	0	0	1	0	0	0	7266	855	30	4	437	4	HNRNPD	4	83278573	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09		83278573	107875703	8	9023											
NDST3	9348	genome.wustl.edu	37	chr4	118975296	118975296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgcctcaaggacagaCcccacagtcctagtatttgt	8	11	1	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr4:118975296C>A	ENST00000296499.5	+	2	634	c.231C>A	c.(229-231)gaC>gaA	p.D77E	NDST3_ENST00000433996.2_Missense_Mutation_p.D77E	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	77	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAAGGACAGACCCCACAGTCC	0.423																																																	0								ENSG00000164100						98	96	97					4																	118975296		2203	4300	6503	NDST3	SO:0001583	missense	0			-	HGNC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.231C>A	4.37:g.118975296C>A	ENSP00000296499:p.Asp77Glu	Somatic	0	37	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	58	13.43	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D77E	ENST00000296499.5	37	c.231	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491950	0.26774	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.48201	1.14;0.82	5.53	1.79	0.24919	.	0.045924	0.85682	D	0.000000	T	0.30696	0.0773	L	0.31371	0.925	0.30384	N	0.781622	B;B;B	0.20550	0.008;0.046;0.009	B;B;B	0.30495	0.028;0.116;0.016	T	0.18524	-1.0334	10	0.29301	T	0.29	.	2.7622	0.05310	0.1992:0.4736:0.0976:0.2295	.	77;77;77	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	E	77	ENSP00000296499:D77E;ENSP00000396625:D77E	ENSP00000296499:D77E	D	+	3	2	NDST3	119194744	0.004000	0.15560	0.158000	0.22627	0.880000	0.50808	-1.181000	0.03085	-0.190000	0.10465	-0.813000	0.03139	GAC	-	pfam_Heparan_SO4_deacetylase		0.423	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	protein_coding	OTTHUMT00000256517.4	C	NM_004784	-		118975296	1	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	SNP	0.876	A	A	118975296	C	A	118975296	3	1	122	1	0	0	0	0	1	0	0	0	10259	506	18	3	233	3	NDST3	4	118975296	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	35696723	118975296	72178980	9	9024											
OCLN	100506658	genome.wustl.edu	37	chr5	68809856	68809856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaaactcgaagaaagAtggacaggtatgacaagtcc	11	7	0	4	rs559132071		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr5:68809856A>G	ENST00000355237.2	+	4	1247	c.811A>G	c.(811-813)Atg>Gtg	p.M271V	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.M20V|OCLN_ENST00000396442.2_Missense_Mutation_p.M271V	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	271					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCGAAGAAAGATGGACAGGTA	0.388																																																	0								ENSG00000197822						119	113	115					5																	68809856		2203	4300	6503	OCLN	SO:0001583	missense	0			-	HGNC	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.811A>G	5.37:g.68809856A>G	ENSP00000347379:p.Met271Val	Somatic	0	103	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	106	32.48	B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP							pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.M271V	ENST00000355237.2	37	c.811	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173717	0.57692	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000538151	T;T	0.74842	-0.88;-0.88	5.84	5.84	0.93424	.	0.178624	0.64402	D	0.000010	T	0.72170	0.3427	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.69296	-0.5182	10	0.66056	D	0.02	-34.8304	15.1881	0.73020	1.0:0.0:0.0:0.0	.	271	Q16625	OCLN_HUMAN	V	271;271;20	ENSP00000347379:M271V;ENSP00000379719:M271V	ENSP00000347379:M271V	M	+	1	0	OCLN	68845612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.955000	0.76007	2.226000	0.72624	0.482000	0.46254	ATG	-	pirsf_Occludin		0.388	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	protein_coding	OTTHUMT00000216794.1	A	NM_002538	-		68809856	1	no_errors	ENST00000355237	ensembl	human	known	74_37	missense	SNP	1.000	G	G	68809856	A	G	68809856	3	3	122	1	0	0	0	0	1	0	0	0	10822	333	12	5	821	5	OCLN	5	68809856	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09		68809856	112105404	10	9025											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482079	140482079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggagcccgggctgttcGgcgtgtgggcgcacaatggc	17	13	0	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr5:140482079G>A	ENST00000231130.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	616	Cadherin 6. {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)			CGGGCTGTTCGGCGTGTGGGC	0.687																																																	0								ENSG00000113205						26	28	27					5																	140482079		2076	4062	6138	PCDHB3	SO:0001583	missense	0			-	HGNC	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.1846G>A	5.37:g.140482079G>A	ENSP00000231130:p.Gly616Ser	Somatic	0	215	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	160	16.67	B2R8P2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G616S	ENST00000231130.2	37	c.1846	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	3.261	-0.151272	0.06585	.	.	ENSG00000113205	ENST00000231130	T	0.48201	0.82	4.38	-3.96	0.04106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08626	0.0214	N	0.00095	-2.16	0.24424	N	0.99461	B	0.17038	0.02	B	0.17098	0.017	T	0.41215	-0.9521	9	0.02654	T	1	.	8.1319	0.31033	0.6547:0.233:0.1123:0.0	.	616	Q9Y5E6	PCDB3_HUMAN	S	616	ENSP00000231130:G616S	ENSP00000231130:G616S	G	+	1	0	PCDHB3	140462263	0.000000	0.05858	0.994000	0.49952	0.984000	0.73092	-2.316000	0.01123	-0.517000	0.06461	-0.378000	0.06908	GGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	G	NM_018937	-		140482079	1	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	SNP	0.778	A	A	140482079	G	A	140482079	3	1	122	1	0	0	0	0	1	0	0	0	11545	1116	39	1	1848	1	PCDHB3	5	140482079	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	71672223	140482079	40433181	11	9026											
ARAP3	64411	genome.wustl.edu	37	chr5	141059359	141059359	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcctgagggcaggggtGggggcagagatttgggagct	23	5	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr5:141059359G>T	ENST00000239440.4	-	3	620	c.555C>A	c.(553-555)ccC>ccA	p.P185P	ARAP3_ENST00000508305.1_Silent_p.P107P	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	185					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCAGGGGTGGGGGCAGAGA	0.587																																																	0								ENSG00000120318						66	70	69					5																	141059359		2203	4300	6503	ARAP3	SO:0001819	synonymous_variant	0			-	HGNC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.555C>A	5.37:g.141059359G>T		Somatic	0	60	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	B4DIT1|D3DQE3	Silent	SNP							pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.P185	ENST00000239440.4	37	c.555	CCDS4266.1	5																																																																																			-	NULL		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	protein_coding	OTTHUMT00000251805.1	G	NM_022481	-		141059359	-1	no_errors	ENST00000239440	ensembl	human	known	74_37	silent	SNP	0.991	T	T	141059359	G	T	141059359	2	4	122	1	0	0	0	0	0	0	0	1	840	1335	47	3		3	ARAP3	5	141059359	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	577280	141059359	39855901	12	9027											
GRM4	2914	genome.wustl.edu	37	chr6	34100900	34100900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatccttctcgatgagcGcctgcacaaaggtcagcgac	10	14	2	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr6:34100900G>A	ENST00000538487.2	-	2	817	c.374C>T	c.(373-375)gCg>gTg	p.A125V	GRM4_ENST00000374181.4_Missense_Mutation_p.A125V|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	125					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCGATGAGCGCCTGCACAAA	0.637																																																	0								ENSG00000124493						63	53	56					6																	34100900		2203	4300	6503	GRM4	SO:0001583	missense	0			-	HGNC	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.374C>T	6.37:g.34100900G>A	ENSP00000440556:p.Ala125Val	Somatic	0	78	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	67	15.19	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.A125V	ENST00000538487.2	37	c.374	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951308	0.92660	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.86297	-2.1;-2.1	3.99	3.99	0.46301	Extracellular ligand-binding receptor (1);	0.076271	0.51477	D	0.000096	D	0.92564	0.7638	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.999	P;D;D	0.81914	0.753;0.995;0.995	D	0.93264	0.6646	10	0.59425	D	0.04	.	16.2077	0.82141	0.0:0.0:1.0:0.0	.	125;125;125	B7ZLU9;A1L4F9;Q14833	.;.;GRM4_HUMAN	V	125	ENSP00000363296:A125V;ENSP00000440556:A125V	ENSP00000363296:A125V	A	-	2	0	GRM4	34208878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.475000	0.97721	2.230000	0.72887	0.467000	0.42956	GCG	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	protein_coding	OTTHUMT00000040213.2	G		-		34100900	-1	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34100900	G	A	34100900	3	1	122	1	0	0	0	0	1	0	0	0	6801	1087	38	1	2404	1	GRM4	6	34100900	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		34100900	137014167	13	9028											
LRFN2	57497	genome.wustl.edu	37	chr6	40400756	40400756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacagggtccccagtgActcagacagattctggcaga	14	11	2	4			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr6:40400756A>G	ENST00000338305.6	-	2	639	c.97T>C	c.(97-99)Tca>Cca	p.S33P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	33	LRRNT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCCCAGTGACTCAGACAGA	0.612																																																	0								ENSG00000156564						45	50	48					6																	40400756		2203	4300	6503	LRFN2	SO:0001583	missense	0			-	HGNC	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.97T>C	6.37:g.40400756A>G	ENSP00000345985:p.Ser33Pro	Somatic	0	56	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	A5PKU3|Q5SYP9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S33P	ENST00000338305.6	37	c.97	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844784	0.51164	.	.	ENSG00000156564	ENST00000338305	T	0.02395	4.31	5.67	5.67	0.87782	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01558	0.0050	L	0.27053	0.805	0.80722	D	1	P	0.36495	0.556	B	0.38458	0.274	T	0.62964	-0.6742	10	0.45353	T	0.12	.	14.7394	0.69442	1.0:0.0:0.0:0.0	.	33	Q9ULH4	LRFN2_HUMAN	P	33	ENSP00000345985:S33P	ENSP00000345985:S33P	S	-	1	0	LRFN2	40508734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.184000	0.72008	2.178000	0.69098	0.533000	0.62120	TCA	-	NULL		0.612	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	A	XM_166372	-		40400756	-1	no_errors	ENST00000338305	ensembl	human	known	74_37	missense	SNP	1.000	G	G	40400756	A	G	40400756	3	3	122	1	0	0	0	0	1	0	0	0	8940	275	10	5	2280	5	LRFN2	6	40400756	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09	6299856	40400756	130714311	14	9029											
DOPEY1	23033	genome.wustl.edu	37	chr6	83877585	83877585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgttttctgcagaaaaAtccagaggaagacaactcag	8	7	2	3			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr6:83877585A>C	ENST00000349129.2	+	39	7357	c.7097A>C	c.(7096-7098)aAt>aCt	p.N2366T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.N2377T|DOPEY1_ENST00000237163.5_Missense_Mutation_p.N2270T|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2366					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGCAGAAAAATCCAGAGGAA	0.428																																																	0								ENSG00000083097						27	29	29					6																	83877585		2203	4300	6503	DOPEY1	SO:0001583	missense	0			-	HGNC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7097A>C	6.37:g.83877585A>C	ENSP00000195654:p.Asn2366Thr	Somatic	0	47	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.43	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP							pfam_Dopey_N,superfamily_ARM-type_fold	p.N2366T	ENST00000349129.2	37	c.7097	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	A	5.478	0.273187	0.10403	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.37584	1.19;1.62	5.76	3.21	0.36854	.	0.106709	0.64402	N	0.000009	T	0.14657	0.0354	N	0.25647	0.755	0.80722	D	1	P;P;P	0.35714	0.517;0.456;0.456	B;B;B	0.41894	0.369;0.365;0.365	T	0.04386	-1.0955	10	0.21014	T	0.42	.	11.3144	0.49383	0.7097:0.2903:0.0:0.0	.	2257;2357;2366	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	T	2366;2270;2270	ENSP00000195654:N2366T;ENSP00000237163:N2270T	ENSP00000237163:N2270T	N	+	2	0	DOPEY1	83934304	1.000000	0.71417	0.793000	0.32043	0.309000	0.27889	4.868000	0.63021	0.995000	0.38917	0.533000	0.62120	AAT	-	NULL		0.428	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	A	NM_015018	-		83877585	1	no_errors	ENST00000349129	ensembl	human	known	74_37	missense	SNP	0.976	C	C	83877585	A	C	83877585	3	2	122	1	0	0	0	0	1	0	0	0	4709	101	4	5	7243	5	DOPEY1	6	83877585	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09	43476829	83877585	87237482	15	9030			1	70		3	3	268	N	T_A	1.662781e-07
DOPEY1	23033	genome.wustl.edu	37	chr6	83877837	83877837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagccaggcaaaaaaTagaagagatggtagaaaaag	11	5	0	3			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr6:83877837T>C	ENST00000349129.2	+	39	7609	c.7349T>C	c.(7348-7350)aTa>aCa	p.I2450T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.I2461T|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I2354T|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2450					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGGCAAAAAATAGAAGAGATG	0.388																																																	0								ENSG00000083097						57	55	56					6																	83877837		2203	4300	6503	DOPEY1	SO:0001583	missense	0			-	HGNC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7349T>C	6.37:g.83877837T>C	ENSP00000195654:p.Ile2450Thr	Somatic	0	47	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	99	17.50	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP							pfam_Dopey_N,superfamily_ARM-type_fold	p.I2450T	ENST00000349129.2	37	c.7349	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153682	0.78114	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.30182	1.56;1.54	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.48642	1.525	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.993	D;P;P	0.74348	0.983;0.88;0.88	T	0.34403	-0.9830	10	0.87932	D	0	.	14.6387	0.68708	0.0:0.0:0.0:1.0	.	2341;2441;2450	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	T	2450;2354;2354	ENSP00000195654:I2450T;ENSP00000237163:I2354T	ENSP00000237163:I2354T	I	+	2	0	DOPEY1	83934556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.201000	0.70794	0.533000	0.62120	ATA	-	NULL		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	T	NM_015018	-		83877837	1	no_errors	ENST00000349129	ensembl	human	known	74_37	missense	SNP	1.000	C	C	83877837	T	C	83877837	3	2	122	1	0	0	0	0	1	0	0	0	4709	1406	49	5	7495	5	DOPEY1	6	83877837	Missense_Mutation	SNP	T	TCGA-DX-AB2T-01A-11D-A387-09	252	83877837	87237230	16	9031			1	70		3	3	268	N	T_A	1.662781e-07
DOPEY1	23033	genome.wustl.edu	37	chr6	83877852	83877852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatagaagagatggtagAaaaagattttctggaaggga	12	1	1	4			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr6:83877852A>G	ENST00000349129.2	+	39	7624	c.7364A>G	c.(7363-7365)gAa>gGa	p.E2455G	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E2466G|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E2359G|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2455					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAGATGGTAGAAAAAGATTTT	0.383																																																	0								ENSG00000083097						51	50	50					6																	83877852		2203	4300	6503	DOPEY1	SO:0001583	missense	0			-	HGNC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7364A>G	6.37:g.83877852A>G	ENSP00000195654:p.Glu2455Gly	Somatic	0	47	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	98	16.24	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP							pfam_Dopey_N,superfamily_ARM-type_fold	p.E2455G	ENST00000349129.2	37	c.7364	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501811	0.85176	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.35048	1.41;1.33;1.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.986;0.986	T	0.53718	-0.8399	10	0.72032	D	0.01	.	14.6387	0.68708	1.0:0.0:0.0:0.0	.	2346;2446;2455	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	G	2455;2359;2359	ENSP00000195654:E2455G;ENSP00000237163:E2359G;ENSP00000358754:E2359G	ENSP00000237163:E2359G	E	+	2	0	DOPEY1	83934571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.201000	0.70794	0.533000	0.62120	GAA	-	NULL		0.383	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	A	NM_015018	-		83877852	1	no_errors	ENST00000349129	ensembl	human	known	74_37	missense	SNP	1.000	G	G	83877852	A	G	83877852	3	3	122	1	0	0	0	0	1	0	0	0	4709	246	9	5	7510	5	DOPEY1	6	83877852	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09	15	83877852	87237215	17	9032			1	70		3	3	268	N	T_A	1.662781e-07
LAMA2	3908	genome.wustl.edu	37	chr6	129634035	129634035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcacagtgggatccttGgatttccaatgcaatgtaaa	10	8	0	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr6:129634035G>T	ENST00000421865.2	+	23	3253	c.3204G>T	c.(3202-3204)ttG>ttT	p.L1068F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1068	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)			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)		TGGGATCCTTGGATTTCCAAT	0.388																																																	0								ENSG00000196569						82	80	81					6																	129634035		2203	4300	6503	LAMA2	SO:0001583	missense	0			-	HGNC	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.3204G>T	6.37:g.129634035G>T	ENSP00000400365:p.Leu1068Phe	Somatic	0	67	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	113	20.42	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L1068F	ENST00000421865.2	37	c.3204	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	g	5.115	0.206846	0.09704	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.56611	0.45	5.92	1.83	0.25207	EGF-like, laminin (3);	0.401128	0.22777	N	0.055762	T	0.18841	0.0452	L	0.48642	1.525	0.39256	D	0.96412	B;B	0.14805	0.011;0.011	B;B	0.17433	0.018;0.018	T	0.11397	-1.0589	10	0.27082	T	0.32	.	0.478	0.00543	0.2099:0.2354:0.2776:0.2772	.	1068;1068	A6NF00;P24043	.;LAMA2_HUMAN	F	1068	ENSP00000400365:L1068F	ENSP00000346769:L1068F	L	+	3	2	LAMA2	129675728	0.755000	0.28372	0.998000	0.56505	0.974000	0.67602	-0.130000	0.10498	0.858000	0.35431	-0.127000	0.14921	TTG	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	G		-		129634035	1	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	SNP	0.978	T	T	129634035	G	T	129634035	3	4	122	1	0	0	0	0	1	0	0	0	8608	1339	47	3	3294	3	LAMA2	6	129634035	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	45756183	129634035	41481032	18	9033											
HOXA1	3198	genome.wustl.edu	37	chr7	27135319	27135319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctgggggtggcgatgGtggtggtggtggtggtggtg	26	4	0	0	rs2074398		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr7:27135319G>A	ENST00000343060.4	-	1	274	c.213C>T	c.(211-213)caC>caT	p.H71H	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Silent_p.H71H|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggtggcgatggtggtggtggt	0.642											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000105991						37	40	39					7																	27135319		2203	4300	6503	HOXA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.213C>T	7.37:g.27135319G>A		Somatic	0	67	0	792	0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	95	8.65	A4D184|B2R8U7|O43363	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.H71	ENST00000343060.4	37	c.213	CCDS5401.1	7																																																																																			-	NULL		0.642	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	protein_coding	OTTHUMT00000358454.1	G		rs2074398		27135319	-1	no_errors	ENST00000343060	ensembl	human	known	74_37	silent	SNP	0.999	A	A	27135319	G	A	27135319	2	1	122	1	0	0	0	0	0	0	0	1	7290	1252	44	2		2	HOXA1	7	27135319	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		27135319	132003344	19	9034											
TNFRSF10B	8795	genome.wustl.edu	37	chr8	22888375	22888375	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatctctaccgtcttctgaGatatggtgtcctgggagggg	13	9	3	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr8:22888375G>T	ENST00000276431.4	-	3	545	c.261C>A	c.(259-261)atC>atA	p.I87I	TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Silent_p.I87I|TNFRSF10B_ENST00000542226.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	87					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CGTCTTCTGAGATATGGTGTC	0.522																																					GBM(94;1064 1342 1839 21060 42553)												0								ENSG00000120889						97	82	87					8																	22888375		2203	4300	6503	TNFRSF10B	SO:0001819	synonymous_variant	0			-	HGNC	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.261C>A	8.37:g.22888375G>T		Somatic	0	20	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP							NULL	p.S52Y	ENST00000276431.4	37	c.155	CCDS6035.1	8																																																																																			-	NULL		0.522	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF10B	protein_coding	OTTHUMT00000215099.2	G	NM_147187	-		22888375	-1	no_errors	ENST00000523504	ensembl	human	known	74_37	missense	SNP	0.000	T	T	22888375	G	T	22888375	2	4	122	1	0	0	0	0	0	0	0	1	16288	932	33	3		3	TNFRSF10B	8	22888375	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		22888375	123475647	20	9035											
CSMD3	114788	genome.wustl.edu	37	chr8	114326938	114326938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacccatgtgcagtttgcaCcatttggatatccatatgga	8	9	0	0	rs139679166		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr8:114326938C>A	ENST00000297405.5	-	2	507	c.263G>T	c.(262-264)gGt>gTt	p.G88V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G88V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G48V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G88V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	88	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G88D(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						GCAGTTTGCACCATTTGGATA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	skin(1)						ENSG00000164796						161	158	159					8																	114326938		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.263G>T	8.37:g.114326938C>A	ENSP00000297405:p.Gly88Val	Somatic	0	74	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	47	26.56	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G88V	ENST00000297405.5	37	c.263	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750538	0.49257	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000008	T	0.56187	0.1968	M	0.81497	2.545	0.52501	D	0.999958	P;P;D;D;B	0.89917	0.739;0.944;0.999;1.0;0.214	B;P;D;D;B	0.91635	0.318;0.646;0.982;0.999;0.322	T	0.57271	-0.7840	10	0.49607	T	0.09	.	12.2291	0.54478	0.0:0.9226:0.0:0.0774	.	88;88;88;88;48	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	V	48;88;88;88	ENSP00000345799:G48V;ENSP00000297405:G88V;ENSP00000412263:G88V;ENSP00000343124:G88V	ENSP00000297405:G88V	G	-	2	0	CSMD3	114396114	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.942000	0.63547	2.697000	0.92050	0.557000	0.71058	GGT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		114326938	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114326938	C	A	114326938	3	1	122	1	0	0	0	0	1	0	0	0	3948	507	18	3	11140	3	CSMD3	8	114326938	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	91438563	114326938	32037084	21	9036											
TRPS1	7227	genome.wustl.edu	37	chr8	116616386	116616386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcacagtgggaacaatTactttttctacaagcaaacg	9	8	1	0	rs370300182		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr8:116616386T>C	ENST00000220888.5	-	3	1930	c.1771A>G	c.(1771-1773)Aat>Gat	p.N591D	TRPS1_ENST00000519674.1_Missense_Mutation_p.N591D|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Missense_Mutation_p.N604D|TRPS1_ENST00000520276.1_Missense_Mutation_p.N595D			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	591					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGAACAATTACTTTTTCTA	0.483									Langer-Giedion syndrome																																								0								ENSG00000104447	T	ASP/ASN	1,3915		0,1,1957	70	71	71		1810	5.9	1	8		71	0,8296		0,0,4148	no	missense	TRPS1	NM_014112.2	23	0,1,6105	CC,CT,TT		0.0,0.0255,0.0082	possibly-damaging	604/1295	116616386	1,12211	1958	4148	6106	TRPS1	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	-	HGNC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1771A>G	8.37:g.116616386T>C	ENSP00000220888:p.Asn591Asp	Somatic	0	57	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP							pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.N604D	ENST00000220888.5	37	c.1810		8	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054152	0.55218	2.55E-4	0.0	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.87	5.87	0.94306	.	0.104371	0.64402	D	0.000003	T	0.10723	0.0262	N	0.19112	0.55	0.38028	D	0.935072	P;P;P	0.50528	0.936;0.895;0.936	P;B;P	0.44394	0.448;0.262;0.448	T	0.10245	-1.0638	10	0.48119	T	0.1	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	595;591;604	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	D	604;591;595;591	ENSP00000379065:N604D;ENSP00000220888:N591D;ENSP00000428680:N595D;ENSP00000429174:N591D	ENSP00000220888:N591D	N	-	1	0	TRPS1	116685561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.704000	0.61831	2.371000	0.80710	0.533000	0.62120	AAT	-	NULL		0.483	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	protein_coding	OTTHUMT00000286436.3	T	NM_014112	-		116616386	-1	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	SNP	1.000	C	C	116616386	T	C	116616386	3	2	122	1	0	0	0	0	1	0	0	0	16600	1754	61	5	2090	5	TRPS1	8	116616386	Missense_Mutation	SNP	T	TCGA-DX-AB2T-01A-11D-A387-09	2289448	116616386	29747636	22	9037											
EIF2C2	27161	genome.wustl.edu	37	chr8	141545618	141545618	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgaactcggtggggtgggtGattttcgtgtccacagtcgt	15	8	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr8:141545618G>A	ENST00000220592.5	-	17	2332	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	740	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TGGGGTGGGTGATTTTCGTGT	0.592																																																	0								ENSG00000123908						281	210	234					8																	141545618		2203	4300	6503	AGO2	SO:0001819	synonymous_variant	0			-	HGNC	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2220C>T	8.37:g.141545618G>A		Somatic	0	34	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	20.69	Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.I740	ENST00000220592.5	37	c.2220	CCDS6380.1	8																																																																																			-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	protein_coding	OTTHUMT00000377866.4	G		-		141545618	-1	no_errors	ENST00000220592	ensembl	human	known	74_37	silent	SNP	1.000	A	A	141545618	G	A	141545618	2	1	122	1	0	0	0	0	0	0	0	1	5008	1280	45	2		2	EIF2C2	8	141545618	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	24929232	141545618	4818404	23	9038											
IFNE	338376	genome.wustl.edu	37	chr9	21481472	21481472	+	Frame_Shift_Del	DEL	T	T	-													agaatggccagagtgtgtccTttttggtactgctgaggact							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr9:21481472delT	ENST00000448696.3	-	1	840	c.222delA	c.(220-222)aaafs	p.K74fs	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	74					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						GAGTGTGTCCTTTTTGGTACT	0.453																																																	0								ENSG00000184995						92	84	87					9																	21481472		2203	4300	6503	IFNE	SO:0001589	frameshift_variant	0				HGNC	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.222delA	9.37:g.21481472delT	ENSP00000418018:p.Lys74fs	Somatic	0	22	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52		Frame_Shift_Del	DEL							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.G75fs	ENST00000448696.3	37	c.222	CCDS34997.1	9																																																																																			-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.453	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	protein_coding	OTTHUMT00000051901.2	T	NM_176891			21481472	-1	no_errors	ENST00000448696	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	21481472	T	-	21481472	7	5	122	1	0	1	0	1	0	0	0	0	7549	1606	56	0	408	0	IFNE	9	21481472	Frame_Shift_Del	DEL	T	TCGA-DX-AB2T-01A-11D-A387-09		21481472	119731959	24	9039											
QSOX2	169714	genome.wustl.edu	37	chr9	139100668	139100668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagggatgaagccacgTacagcacgacacagagactc	12	11	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr9:139100668T>A	ENST00000358701.5	-	12	2040	c.2003A>T	c.(2002-2004)tAc>tTc	p.Y668F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	668					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TGAAGCCACGTACAGCACGAC	0.632																																																	0								ENSG00000165661						158	137	144					9																	139100668		2203	4300	6503	QSOX2	SO:0001583	missense	0			-	HGNC	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.2003A>T	9.37:g.139100668T>A	ENSP00000351536:p.Tyr668Phe	Somatic	0	70	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	80	27.93	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP							pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.Y668F	ENST00000358701.5	37	c.2003	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878733	0.72294	.	.	ENSG00000165661	ENST00000358701	T	0.25912	1.77	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	T	0.48589	0.1508	M	0.66939	2.045	0.48511	D	0.999665	D	0.76494	0.999	D	0.80764	0.994	T	0.50550	-0.8815	10	0.62326	D	0.03	-29.2375	13.8861	0.63710	0.0:0.0:0.0:1.0	.	668	Q6ZRP7	QSOX2_HUMAN	F	668	ENSP00000351536:Y668F	ENSP00000351536:Y668F	Y	-	2	0	QSOX2	138240489	1.000000	0.71417	0.964000	0.40570	0.841000	0.47740	7.324000	0.79115	1.859000	0.53934	0.456000	0.33151	TAC	-	NULL		0.632	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	protein_coding	OTTHUMT00000055046.2	T	NM_181701	-		139100668	-1	no_errors	ENST00000358701	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139100668	T	A	139100668	3	1	122	1	0	0	0	0	1	0	0	0	12892	1638	57	5	97	5	QSOX2	9	139100668	Missense_Mutation	SNP	T	TCGA-DX-AB2T-01A-11D-A387-09	117619196	139100668	2112763	25	9040											
CTBP2	1488	genome.wustl.edu	37	chr10	126727587	126727587	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaaattctgtccaatcGctgtctcttgactttgtgct	6	11	3	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr10:126727587G>A	ENST00000337195.5	-	3	436	c.37C>T	c.(37-39)Cga>Tga	p.R13*	CTBP2_ENST00000531469.1_Nonsense_Mutation_p.R13*|CTBP2_ENST00000494626.2_Nonsense_Mutation_p.R13*|CTBP2_ENST00000411419.2_Nonsense_Mutation_p.R13*|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	13					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTGTCCAATCGCTGTCTCTTG	0.453																																																	0								ENSG00000175029						146	134	138					10																	126727587		2203	4300	6503	CTBP2	SO:0001587	stop_gained	0			-	HGNC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.37C>T	10.37:g.126727587G>A	ENSP00000338615:p.Arg13*	Somatic	0	35	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Nonsense_Mutation	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.R13*	ENST00000337195.5	37	c.37	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.252440	0.97412	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2863	0.87142	0.0:0.0:1.0:0.0	.	.	.	.	X	13	.	ENSP00000338615:R13X	R	-	1	2	CTBP2	126717577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.881000	0.75584	2.746000	0.94184	0.655000	0.94253	CGA	-	NULL		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	protein_coding	OTTHUMT00000050900.3	G	NM_001083914	-		126727587	-1	no_errors	ENST00000337195	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	126727587	G	A	126727587	4	1	122	1	0	0	0	0	0	1	0	0	4000	1095	38	1	3018	1	CTBP2	10	126727587	Nonsense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		126727587	8807160	26	9041											
BTBD10	84280	genome.wustl.edu	37	chr11	13424802	13424803	+	Frame_Shift_Del	DEL	TA	TA	-													ttcaatatacttgaaaaatcTatataattttgtgctataaa							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr11:13424802_13424803delTA	ENST00000278174.5	-	8	1274_1275	c.1029_1030delTA	c.(1027-1032)tatagafs	p.YR343fs	BTBD10_ENST00000528120.1_Frame_Shift_Del_p.YR295fs|BTBD10_ENST00000530907.1_Frame_Shift_Del_p.YR351fs	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	343	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTGAAAAATCTATATAATTTTG	0.272																																																	0								ENSG00000148925																																			BTBD10	SO:0001589	frameshift_variant	0				HGNC	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1029_1030delTA	11.37:g.13424806_13424807delTA	ENSP00000278174:p.Tyr343fs	Somatic	0	107	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	88	76	53.66	B7Z228|Q86WG1	Frame_Shift_Del	DEL							superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.Y343fs	ENST00000278174.5	37	c.1030_1029	CCDS7811.1	11																																																																																			-	NULL		0.272	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD10	protein_coding	OTTHUMT00000386200.1	TA	NM_032320			13424803	-1	no_errors	ENST00000278174	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	13424803	TA	-	13424802	7	5	122	1	0	1	0	1	0	0	0	0	1540	1530	53	0	405	0	BTBD10	11	13424802	Frame_Shift_Del	DEL	TA	TCGA-DX-AB2T-01A-11D-A387-09		13424802	121581714	27	9042											
USH1C	10083	genome.wustl.edu	37	chr11	17542934	17542934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcattttcctctgctgcCttctgggcaatttcttttct	5	13	5	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr11:17542934C>T	ENST00000318024.4	-	13	1152	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	USH1C_ENST00000527020.1_Silent_p.K329K|USH1C_ENST00000527720.1_Silent_p.K317K|USH1C_ENST00000005226.7_Silent_p.K348K	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	348					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCTGCTGCCTTCTGGGCAA	0.468																																																	0								ENSG00000006611						273	222	240					11																	17542934		2200	4293	6493	USH1C	SO:0001819	synonymous_variant	0			-	HGNC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1044G>A	11.37:g.17542934C>T		Somatic	0	113	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	21	65.57	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K348	ENST00000318024.4	37	c.1044	CCDS31438.1	11																																																																																			-	NULL		0.468	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	protein_coding	OTTHUMT00000389146.1	C	NM_005709	-		17542934	-1	no_errors	ENST00000005226	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17542934	C	T	17542934	2	4	122	1	0	0	0	0	0	0	0	1	17041	680	24	2		2	USH1C	11	17542934	Silent	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	4118132	17542934	117463582	28	9043											
FOLH1	2346	genome.wustl.edu	37	chr11	49208258	49208258	+	Nonsense_Mutation	SNP	T	T	A													tttcccagagcaattgatttTcatgtcccgttccaatttaa							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr11:49208258T>A	ENST00000256999.2	-	5	837	c.577A>T	c.(577-579)Aaa>Taa	p.K193*	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.K178*|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.K178*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.K193*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	193					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAATTGATTTTCATGTCCCGT	0.363																																																	0								ENSG00000086205						76	81	80					11																	49208258		2201	4298	6499	FOLH1	SO:0001587	stop_gained	0			-	HGNC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.577A>T	11.37:g.49208258T>A	ENSP00000256999:p.Lys193*	Somatic	0	83	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	155	17.55	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP							pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.K193*	ENST00000256999.2	37	c.577	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	38	6.833635	0.97873	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	.	.	.	3.05	1.93	0.25924	.	0.250905	0.27375	N	0.019643	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	6.1314	0.20207	0.0:0.1361:0.0:0.8639	.	.	.	.	X	193;193;178;178;193	.	ENSP00000256999:K193X	K	-	1	0	FOLH1	49164834	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.140000	0.42159	1.425000	0.47237	0.352000	0.21897	AAA	-	pfam_Protease-assoc_domain		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	protein_coding	OTTHUMT00000390896.1	T	NM_004476	-		49208258	-1	no_errors	ENST00000256999	ensembl	human	known	74_37	nonsense	SNP	0.996	A	A	49208258	T	A	49208258	4	1	122	1	0	0	0	0	0	1	0	0	5981	1792	62	5	1735	5	FOLH1	11	49208258	Nonsense_Mutation	SNP	T	TCGA-DX-AB2T-01A-11D-A387-09	31665324	49208258	85798258	29	9044	160	2									
FOLH1	2346	genome.wustl.edu	37	chr11	49208259	49208259	+	Missense_Mutation	SNP	C	C	A													ttcccagagcaattgattttCatgtcccgttccaatttaaa							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr11:49208259C>A	ENST00000256999.2	-	5	836	c.576G>T	c.(574-576)atG>atT	p.M192I	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.M177I|FOLH1_ENST00000340334.7_Missense_Mutation_p.M177I|FOLH1_ENST00000356696.3_Missense_Mutation_p.M192I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	192					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATTGATTTTCATGTCCCGTT	0.363																																																	0								ENSG00000086205						77	82	80					11																	49208259		2201	4298	6499	FOLH1	SO:0001583	missense	0			-	HGNC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.576G>T	11.37:g.49208259C>A	ENSP00000256999:p.Met192Ile	Somatic	0	83	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	156	17.46	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP							pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.M192I	ENST00000256999.2	37	c.576	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146333	0.37923	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	3.05	2.12	0.27331	Protease-associated domain, PA (1);	0.496506	0.18364	N	0.143492	T	0.08044	0.0201	L	0.60904	1.88	0.80722	D	1	B;B;B;B	0.34147	0.438;0.192;0.077;0.007	B;B;B;B	0.31751	0.135;0.022;0.037;0.013	T	0.14671	-1.0464	10	0.62326	D	0.03	.	4.3709	0.11247	0.0:0.715:0.0:0.285	.	177;177;192;192	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	I	192;192;177;177;192	ENSP00000256999:M192I;ENSP00000349129:M192I;ENSP00000344131:M177I;ENSP00000431463:M177I	ENSP00000256999:M192I	M	-	3	0	FOLH1	49164835	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.161000	0.58170	1.746000	0.51805	0.430000	0.28490	ATG	-	pfam_Protease-assoc_domain		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	protein_coding	OTTHUMT00000390896.1	C	NM_004476	-		49208259	-1	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	SNP	0.997	A	A	49208259	C	A	49208259	3	1	122	1	0	0	0	0	1	0	0	0	5981	826	29	3	1736	3	FOLH1	11	49208259	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	1	49208259	85798257	30	9045	160	2									
DDB1	1642	genome.wustl.edu	37	chr11	61067680	61067680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcgcttcataccgctGccatcgtcatactgcaatga	7	15	3	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr11:61067680G>T	ENST00000301764.7	-	27	3748	c.3351C>A	c.(3349-3351)ggC>ggA	p.G1117G	DDB1_ENST00000450997.2_Silent_p.G428G|DDB1_ENST00000451943.2_Silent_p.G104G|DDB1_ENST00000538470.1_Silent_p.G164G	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1117	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATACCGCTGCCATCGTCAT	0.597								Nucleotide excision repair (NER)																																									0								ENSG00000167986						105	73	84					11																	61067680		2203	4299	6502	DDB1	SO:0001819	synonymous_variant	0			-	HGNC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3351C>A	11.37:g.61067680G>T		Somatic	0	62	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP							pfam_Cleavage/polyA-sp_fac_asu_C	p.G1117	ENST00000301764.7	37	c.3351	CCDS31576.1	11																																																																																			-	NULL		0.597	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	protein_coding	OTTHUMT00000398816.1	G	NM_001923	-		61067680	-1	no_errors	ENST00000301764	ensembl	human	known	74_37	silent	SNP	1.000	T	T	61067680	G	T	61067680	2	4	122	1	0	0	0	0	0	0	0	1	4325	1306	46	3		3	DDB1	11	61067680	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	11859421	61067680	73938836	31	9046											
C1S	716	genome.wustl.edu	37	chr12	7175059	7175059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagccatattactacatGgaaaatggaggaggtggtag	15	4	0	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr12:7175059G>A	ENST00000406697.1	+	13	1807	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	C1S_ENST00000402681.3_Missense_Mutation_p.M226I|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.M393I|C1S_ENST00000328916.3_Missense_Mutation_p.M393I			P09871	C1S_HUMAN	complement component 1, s subcomponent	393	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATTACTACATGGAAAATGGAG	0.458																																					GBM(156;750 1943 12971 24779 31015)												0								ENSG00000182326						116	119	118					12																	7175059		2203	4300	6503	C1S	SO:0001583	missense	0			-	HGNC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1179G>A	12.37:g.7175059G>A	ENSP00000385035:p.Met393Ile	Somatic	0	36	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.M393I	ENST00000406697.1	37	c.1179	CCDS31735.1	12	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381536	0.42207	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.126366	0.36482	N	0.002569	T	0.61223	0.2330	M	0.66506	2.035	0.29733	N	0.837764	B	0.18461	0.028	B	0.25614	0.062	T	0.58803	-0.7572	10	0.39692	T	0.17	.	12.606	0.56523	0.1181:0.0:0.8819:0.0	.	393	P09871	C1S_HUMAN	I	393;393;393;381;226	ENSP00000385035:M393I;ENSP00000328173:M393I;ENSP00000354057:M393I;ENSP00000384171:M226I	ENSP00000328173:M393I	M	+	3	0	C1S	7045320	0.965000	0.33210	0.987000	0.45799	0.716000	0.41182	1.443000	0.35057	2.669000	0.90835	0.655000	0.94253	ATG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.458	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	protein_coding	OTTHUMT00000317481.1	G	NM_001734	-		7175059	1	no_errors	ENST00000328916	ensembl	human	known	74_37	missense	SNP	0.748	A	A	7175059	G	A	7175059	3	1	122	1	0	0	0	0	1	0	0	0	1976	1348	47	2	1213	2	C1S	12	7175059	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		7175059	126676836	32	9047											
DHH	50846	genome.wustl.edu	37	chr12	49484936	49484936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccgacacgtggacgtgGttgcgggactcgtagtagac	15	9	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr12:49484936G>T	ENST00000266991.2	-	2	846	c.540C>A	c.(538-540)aaC>aaA	p.N180K	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	180					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CGTGGACGTGGTTGCGGGACT	0.592																																																	0								ENSG00000139549						133	134	134					12																	49484936		2203	4300	6503	DHH	SO:0001583	missense	0			-	HGNC	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.540C>A	12.37:g.49484936G>T	ENSP00000266991:p.Asn180Lys	Somatic	0	60	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q15794	Missense_Mutation	SNP							pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.N180K	ENST00000266991.2	37	c.540	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337671	0.41398	.	.	ENSG00000139549	ENST00000266991	D	0.99252	-5.63	4.87	4.87	0.63330	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.182612	0.49916	D	0.000140	D	0.97312	0.9121	L	0.43152	1.355	0.39741	D	0.971755	B	0.30068	0.267	B	0.22152	0.038	D	0.96546	0.9404	10	0.54805	T	0.06	-20.6992	11.4178	0.49962	0.0:0.0:0.7197:0.2803	.	180	O43323	DHH_HUMAN	K	180	ENSP00000266991:N180K	ENSP00000266991:N180K	N	-	3	2	DHH	47771203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.659000	0.24994	2.645000	0.89757	0.650000	0.86243	AAC	-	pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog		0.592	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	protein_coding	OTTHUMT00000408973.1	G	NM_021044	-		49484936	-1	no_errors	ENST00000266991	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49484936	G	T	49484936	3	4	122	1	0	0	0	0	1	0	0	0	4485	1252	44	3	658	3	DHH	12	49484936	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	42309877	49484936	84366959	33	9048											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85638644	85638644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctttgtctgtgaacagAgaaaaaaaaaatcaggcaca	9	6	2	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr12:85638644A>G	ENST00000393217.2	+	27	5155	c.5094A>G	c.(5092-5094)agA>agG	p.R1698R	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1698										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGTGAACAGAGAAAAAAAAA	0.393																																																	0								ENSG00000133640						93	85	87					12																	85638644		1838	4090	5928	LRRIQ1	SO:0001819	synonymous_variant	0			-	HGNC	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5094A>G	12.37:g.85638644A>G		Somatic	0	41	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	32	42.86	Q567P4|Q9BS17|Q9HA36	Silent	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.R1698	ENST00000393217.2	37	c.5094	CCDS41816.1	12																																																																																			-	NULL		0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	A	NM_032165	-		85638644	1	no_errors	ENST00000393217	ensembl	human	known	74_37	silent	SNP	1.000	G	G	85638644	A	G	85638644	2	3	122	1	0	0	0	0	0	0	0	1	9031	301	11	5		5	LRRIQ1	12	85638644	Silent	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09	36153708	85638644	48213251	34	9049											
RB1	5925	genome.wustl.edu	37	chr13	48955550	48955556	+	Frame_Shift_Del	DEL	CGAATCA	CGAATCA	-													atttagaacgatgtgaacatCgaatcatggaatcccttgca					rs121913304		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	CGAATCA	CGAATCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr13:48955550_48955556delCGAATCA	ENST00000267163.4	+	17	1804_1810	c.1666_1672delCGAATCA	c.(1666-1674)cgaatcatgfs	p.RIM556fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	556	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R556*(5)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATGTGAACATCGAATCATGGAATCCCT	0.329		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	29	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)|Deletion - Frameshift(1)	bone(11)|breast(5)|eye(4)|central_nervous_system(4)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	GRCh37	CD075538|CM942039	RB1	D|M	rs121913304	ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1666_1672delCGAATCA	13.37:g.48955550_48955556delCGAATCA	ENSP00000267163:p.Arg556fs	Somatic					0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R556fs	ENST00000267163.4	37	c.1666_1672	CCDS31973.1	13																																																																																			-	pfam_RB_A,superfamily_Cyclin-like		0.329	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	CGAATCA				48955556	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000	-	-	48955556	CGAATCA	-	48955550	7	5	122	1	0	1	0	1	0	0	0	0	13106	876	31	0	1732	0	RB1	13	48955550	Frame_Shift_Del	DEL	CGAATCA	TCGA-DX-AB2T-01A-11D-A387-09		48955550	66214328	35	9050											
IPO5	3843	genome.wustl.edu	37	chr13	98666439	98666439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccagattcagacgtcCtctcagaaataatgcattct	6	11	3	4			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr13:98666439C>T	ENST00000490680.1	+	19	2361	c.2296C>T	c.(2296-2298)Ctc>Ttc	p.L766F	IPO5_ENST00000261574.5_Missense_Mutation_p.L784F|IPO5_ENST00000539640.1_Missense_Mutation_p.L641F			O00410	IPO5_HUMAN	importin 5	766					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTCAGACGTCCTCTCAGAAAT	0.353																																																	0								ENSG00000065150						109	105	107					13																	98666439		2203	4300	6503	IPO5	SO:0001583	missense	0			-	HGNC	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2296C>T	13.37:g.98666439C>T	ENSP00000418393:p.Leu766Phe	Somatic	0	66	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	113	16.91	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.L784F	ENST00000490680.1	37	c.2350		13	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250369	0.80024	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.12774	2.65;2.65;2.65;2.68	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	M	0.86953	2.85	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.44128	-0.9348	10	0.66056	D	0.02	-8.0403	16.3718	0.83365	0.1323:0.8677:0.0:0.0	.	784	O00410-3	.	F	784;766;766;641	ENSP00000261574:L784F;ENSP00000350219:L766F;ENSP00000418393:L766F;ENSP00000445126:L641F	ENSP00000261574:L784F	L	+	1	0	IPO5	97464440	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.672000	0.68102	2.756000	0.94617	0.655000	0.94253	CTC	-	superfamily_ARM-type_fold		0.353	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	protein_coding	OTTHUMT00000354655.1	C	NM_002271	-		98666439	1	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98666439	C	T	98666439	3	4	122	1	0	0	0	0	1	0	0	0	7798	681	24	2	2428	2	IPO5	13	98666439	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	49710889	98666439	16503439	36	9051											
RNF113B	140432	genome.wustl.edu	37	chr13	98828591	98828591	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttctttggcggggttaaaGatgccgccggttggctggtc	16	8	1	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr13:98828591G>C	ENST00000267291.6	-	1	928	c.900C>G	c.(898-900)atC>atG	p.I300M	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	300							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGGGGTTAAAGATGCCGCCGG	0.577																																																	0								ENSG00000139797						78	83	82					13																	98828591		2203	4300	6503	RNF113B	SO:0001583	missense	0			-	HGNC	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.900C>G	13.37:g.98828591G>C	ENSP00000267291:p.Ile300Met	Somatic	0	78	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	91	9.90	Q8WWF9|Q96QY9	Missense_Mutation	SNP							pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.I300M	ENST00000267291.6	37	c.900	CCDS9486.1	13	.	.	.	.	.	.	.	.	.	.	G	1.763	-0.486224	0.04352	.	.	ENSG00000139797	ENST00000267291	T	0.33654	1.4	1.57	1.57	0.23409	Zinc finger, RING/FYVE/PHD-type (1);	0.074362	0.53938	U	0.000060	T	0.25195	0.0612	L	0.43152	1.355	0.28848	N	0.896189	B	0.18310	0.027	B	0.23150	0.044	T	0.11767	-1.0574	10	0.48119	T	0.1	.	3.9617	0.09413	0.2258:0.0:0.7742:0.0	.	300	Q8IZP6	R113B_HUMAN	M	300	ENSP00000267291:I300M	ENSP00000267291:I300M	I	-	3	3	RNF113B	97626592	1.000000	0.71417	0.708000	0.30435	0.024000	0.10985	0.774000	0.26675	1.176000	0.42840	0.591000	0.81541	ATC	-	NULL		0.577	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113B	protein_coding	OTTHUMT00000045536.3	G	NM_178861	-		98828591	-1	no_errors	ENST00000267291	ensembl	human	known	74_37	missense	SNP	1.000	C	C	98828591	G	C	98828591	3	2	122	1	0	0	0	0	1	0	0	0	13436	932	33	4	76	4	RNF113B	13	98828591	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	162152	98828591	16341287	37	9052											
SLC15A1	6564	genome.wustl.edu	37	chr13	99338480	99338480	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccctgccacgatgagCacaatgatgttgccaacagc	9	15	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr13:99338480C>A	ENST00000376503.5	-	22	1954	c.1899G>T	c.(1897-1899)gtG>gtT	p.V633V		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	633					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)			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)	CCACGATGAGCACAATGATGT	0.547																																																	0								ENSG00000088386						143	94	110					13																	99338480		2203	4300	6503	SLC15A1	SO:0001819	synonymous_variant	0			-	HGNC	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.1899G>T	13.37:g.99338480C>A		Somatic	0	57	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5VW82	Silent	SNP							pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.V633	ENST00000376503.5	37	c.1899	CCDS9489.1	13																																																																																			-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.547	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	protein_coding	OTTHUMT00000045560.3	C	NM_005073	-		99338480	-1	no_errors	ENST00000376503	ensembl	human	known	74_37	silent	SNP	0.996	A	A	99338480	C	A	99338480	2	1	122	1	0	0	0	0	0	0	0	1	14406	697	25	3		3	SLC15A1	13	99338480	Silent	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	509889	99338480	15831398	38	9053											
MYH7	4625	genome.wustl.edu	37	chr14	23884311	23884311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctccagctcccgcacccGcgcttccagcttctgcagct	7	19	2	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr14:23884311G>A	ENST00000355349.3	-	37	5614	c.5452C>T	c.(5452-5454)Cgg>Tgg	p.R1818W	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1818					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCCGCACCCGCGCTTCCAGC	0.622																																																	0								ENSG00000092054						85	85	85					14																	23884311		2203	4300	6503	MYH7	SO:0001583	missense	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5452C>T	14.37:g.23884311G>A	ENSP00000347507:p.Arg1818Trp	Somatic	0	72	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1818W	ENST00000355349.3	37	c.5452	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927708	0.73327	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84944	-1.92	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.95541	0.8551	H	0.97682	4.055	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	9	0.87932	D	0	.	19.075	0.93158	0.0:0.0:1.0:0.0	.	1818	P12883	MYH7_HUMAN	W	1818;1823	ENSP00000347507:R1818W	ENSP00000347507:R1818W	R	-	1	2	MYH7	22954151	0.863000	0.29885	0.999000	0.59377	0.769000	0.43574	2.169000	0.42434	2.750000	0.94351	0.563000	0.77884	CGG	-	pfam_Myosin_tail		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	G	NM_000257	-		23884311	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23884311	G	A	23884311	3	1	122	1	0	0	0	0	1	0	0	0	10041	1086	38	1	371	1	MYH7	14	23884311	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		23884311	83465229	39	9054											
ATPBD4	89978	genome.wustl.edu	37	chr15	35834677	35834677	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccagcagcaatgcactGcatcatattatagcagctgt	8	11	1	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr15:35834677G>A	ENST00000256538.4	-	2	81	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	DPH6_ENST00000440392.2_Nonsense_Mutation_p.Q19*	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	19					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										GCAATGCACTGCATCATATTA	0.393																																																	0								ENSG00000134146						161	150	153					15																	35834677		2201	4298	6499	DPH6	SO:0001587	stop_gained	0			-	HGNC		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.55C>T	15.37:g.35834677G>A	ENSP00000256538:p.Gln19*	Somatic	0	26	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	11.76	B3KWG1|Q96HJ6	Nonsense_Mutation	SNP							pfam_DUF71_dom,tigrfam_DUF71_dom	p.Q19*	ENST00000256538.4	37	c.55	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	38	6.707520	0.97780	.	.	ENSG00000134146	ENST00000256538;ENST00000440392	.	.	.	5.47	4.53	0.55603	.	0.061185	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-5.1942	15.3081	0.74008	0.0:0.0:0.8589:0.1411	.	.	.	.	X	19	.	ENSP00000256538:Q19X	Q	-	1	0	ATPBD4	33621969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.941000	0.92964	1.246000	0.43901	0.650000	0.86243	CAG	-	pfam_DUF71_dom,tigrfam_DUF71_dom		0.393	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH6	protein_coding	OTTHUMT00000251973.1	G	NM_080650	-		35834677	-1	no_errors	ENST00000256538	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	35834677	G	A	35834677	4	1	122	1	0	0	0	0	0	1	0	0	1202	1328	46	2	970	2	ATPBD4	15	35834677	Nonsense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		35834677	66696715	40	9055											
FBXL16	146330	genome.wustl.edu	37	chr16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-													gggtgggtgggggtggtggcTggcaggggcggttcttggtg							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	TGG	TGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729																																																	0								ENSG00000127585																																			FBXL16	SO:0001651	inframe_deletion	0				HGNC	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.141_143delCCA	16.37:g.747263_747265delTGG	ENSP00000380746:p.Cys47_Gln48delinsTrp	Somatic	0	8	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	In_Frame_Del	DEL							superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.CQ47in_frame_delW	ENST00000397621.1	37	c.143_141	CCDS10421.1	16																																																																																			-	NULL		0.729	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	protein_coding	OTTHUMT00000206851.2	TGG	NM_153350			747265	-1	no_errors	ENST00000324361	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	747265	TGG	-	747263	7	5	122	1	0	1	0	1	0	0	0	0	5714	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-DX-AB2T-01A-11D-A387-09		747263	89607490	41	9056											
CIITA	4261	genome.wustl.edu	37	chr16	10971191	10971191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggattcctacacaatgCgttgcctggctccacgccct	10	15	0	0	rs375497479		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr16:10971191C>T	ENST00000324288.8	+	1	137	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	CIITA_ENST00000381835.5_Missense_Mutation_p.R2C|CIITA_ENST00000537380.1_3'UTR|RP11-876N24.2_ENST00000573071.1_RNA|RP11-876N24.2_ENST00000572017.1_RNA	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	2					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTACACAATGCGTTGCCTGGC	0.607			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0								ENSG00000179583	C	CYS/ARG	0,4394		0,0,2197	59	53	55		4	2.9	1	16		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	CIITA	NM_000246.3	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2/1131	10971191	1,12993	2197	4300	6497	CIITA	SO:0001583	missense	0			-	HGNC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.4C>T	16.37:g.10971191C>T	ENSP00000316328:p.Arg2Cys	Somatic	0	69	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	33	49.23	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.R2C	ENST00000324288.8	37	c.4	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799948	0.50208	0.0	1.16E-4	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.74209	-0.82;1.5	2.94	2.94	0.34122	.	.	.	.	.	T	0.76579	0.4007	L	0.29908	0.895	0.36555	D	0.872078	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.997;1.0;1.0	D;D;B;B;D;D	0.83275	0.996;0.985;0.446;0.446;0.996;0.973	T	0.80355	-0.1417	9	0.87932	D	0	.	9.6023	0.39612	0.0:1.0:0.0:0.0	.	2;2;2;2;2;2	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	C	2	ENSP00000316328:R2C;ENSP00000371257:R2C	ENSP00000316328:R2C	R	+	1	0	CIITA	10878692	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	2.921000	0.48852	1.964000	0.57103	0.313000	0.20887	CGT	-	NULL		0.607	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	protein_coding	OTTHUMT00000251966.2	C	NM_000246	-		10971191	1	no_errors	ENST00000324288	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10971191	C	T	10971191	3	4	122	1	0	0	0	0	1	0	0	0	3430	768	27	1	6	1	CIITA	16	10971191	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	10223928	10971191	79383562	42	9057											
CX3CL1	6376	genome.wustl.edu	37	chr16	57416226	57416226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccccagagctgccgaCgggcgtgactggttcctcag	13	15	1	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr16:57416226C>T	ENST00000006053.6	+	3	587	c.476C>T	c.(475-477)aCg>aTg	p.T159M	CX3CL1_ENST00000563383.1_Missense_Mutation_p.T165M|CX3CL1_ENST00000565912.1_Missense_Mutation_p.T121M|CX3CL1_ENST00000564948.1_3'UTR	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	159	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGCTGCCGACGGGCGTGACT	0.672																																																	0								ENSG00000006210						27	30	29					16																	57416226		2194	4276	6470	CX3CL1	SO:0001583	missense	0			-	HGNC	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.476C>T	16.37:g.57416226C>T	ENSP00000006053:p.Thr159Met	Somatic	0	38	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	8	69.23	O00672	Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1	p.T159M	ENST00000006053.6	37	c.476	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222171	0.39300	.	.	ENSG00000006210	ENST00000006053	T	0.04970	3.52	4.8	-4.73	0.03259	.	20.404600	0.00465	N	0.000101	T	0.05318	0.0141	L	0.29908	0.895	0.09310	N	1	B	0.26081	0.141	B	0.14023	0.01	T	0.36841	-0.9731	10	0.87932	D	0	-11.3807	6.3603	0.21425	0.1318:0.2918:0.0:0.5764	.	159	P78423	X3CL1_HUMAN	M	159	ENSP00000006053:T159M	ENSP00000006053:T159M	T	+	2	0	CX3CL1	55973727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.567000	0.05916	-1.251000	0.02494	-1.128000	0.01989	ACG	-	NULL		0.672	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	protein_coding	OTTHUMT00000257345.3	C	NM_002996	-		57416226	1	no_errors	ENST00000006053	ensembl	human	known	74_37	missense	SNP	0.000	T	T	57416226	C	T	57416226	3	4	122	1	0	0	0	0	1	0	0	0	4076	536	19	1	486	1	CX3CL1	16	57416226	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	46445035	57416226	32938527	43	9058											
RANBP10	57610	genome.wustl.edu	37	chr16	67763633	67763633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcggggactgaggctgGgggagccagggtagctgtcc	19	9	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr16:67763633G>A	ENST00000317506.3	-	9	1212	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	RANBP10_ENST00000536251.1_Missense_Mutation_p.P137L|RANBP10_ENST00000602677.1_Missense_Mutation_p.P366L|RANBP10_ENST00000448631.2_Missense_Mutation_p.P310L|RANBP10_ENST00000411657.2_Missense_Mutation_p.P249L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	366	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ACTGAGGCTGGGGGAGCCAGG	0.607																																																	0								ENSG00000141084						69	70	70					16																	67763633		2198	4300	6498	RANBP10	SO:0001583	missense	0			-	HGNC	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1097C>T	16.37:g.67763633G>A	ENSP00000316589:p.Pro366Leu	Somatic	0	95	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.P366L	ENST00000317506.3	37	c.1097	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355659	0.82243	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	5.7	0.88788	.	0.109438	0.64402	D	0.000005	T	0.79851	0.4517	M	0.76574	2.34	0.80722	D	1	B;D;D	0.89917	0.013;1.0;0.996	B;D;D	0.87578	0.018;0.998;0.983	T	0.77728	-0.2479	9	0.39692	T	0.17	-16.554	19.4289	0.94756	0.0:0.0:1.0:0.0	.	249;310;366	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	L	366;310;137;249	.	ENSP00000316589:P366L	P	-	2	0	RANBP10	66321134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.017000	0.93651	2.700000	0.92200	0.563000	0.77884	CCC	-	NULL		0.607	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	protein_coding	OTTHUMT00000467896.1	G	NM_020850	-		67763633	-1	no_errors	ENST00000317506	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67763633	G	A	67763633	3	1	122	1	0	0	0	0	1	0	0	0	13034	1232	43	2	789	2	RANBP10	16	67763633	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	10347407	67763633	22591120	44	9059											
FAM64A	54478	genome.wustl.edu	37	chr17	6350862	6350862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggcggaagagaggagCacagaagggcagtggatccc	18	8	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:6350862C>T	ENST00000250056.8	+	3	457	c.374C>T	c.(373-375)gCa>gTa	p.A125V	FAM64A_ENST00000572447.1_Missense_Mutation_p.A125V|FAM64A_ENST00000571373.1_Missense_Mutation_p.A125V|FAM64A_ENST00000570337.2_Missense_Mutation_p.A125V|FAM64A_ENST00000572595.2_Missense_Mutation_p.A156V|FAM64A_ENST00000576056.1_Missense_Mutation_p.A125V	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	125					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		AAGAGAGGAGCACAGAAGGGC	0.622																																																	0								ENSG00000129195						63	70	68					17																	6350862		2203	4300	6503	FAM64A	SO:0001583	missense	0			-	HGNC		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.374C>T	17.37:g.6350862C>T	ENSP00000250056:p.Ala125Val	Somatic	0	74	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	48	45.65	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP							pfam_DUF1466	p.A125V	ENST00000250056.8	37	c.374	CCDS56016.1	17	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889749	0.33348	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56776	0.44	4.58	1.08	0.20341	.	1.205350	0.05906	N	0.630892	T	0.45074	0.1324	L	0.50919	1.6	0.09310	N	1	B;B	0.33612	0.043;0.419	B;B	0.33690	0.026;0.168	T	0.29731	-1.0002	10	0.27785	T	0.31	0.0761	6.0726	0.19897	0.0:0.6127:0.0:0.3873	.	125;125	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	V	125	ENSP00000250056:A125V	ENSP00000250056:A125V	A	+	2	0	FAM64A	6291586	0.269000	0.24143	0.001000	0.08648	0.276000	0.26787	0.802000	0.27069	0.153000	0.19213	0.563000	0.77884	GCA	-	pfam_DUF1466		0.622	FAM64A-008	KNOWN	basic|CCDS	protein_coding	FAM64A	protein_coding	OTTHUMT00000439156.1	C	NM_019013	-		6350862	1	no_errors	ENST00000250056	ensembl	human	known	74_37	missense	SNP	0.001	T	T	6350862	C	T	6350862	3	4	122	1	0	0	0	0	1	0	0	0	5600	710	25	2	380	2	FAM64A	17	6350862	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09		6350862	74844348	45	9060											
FAM64A	54478	genome.wustl.edu	37	chr17	6350925	6350925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacccggctgtctggagCcgcccctgcccactcagccg	12	19	2	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:6350925C>T	ENST00000250056.8	+	3	520	c.437C>T	c.(436-438)gCc>gTc	p.A146V	FAM64A_ENST00000572447.1_Missense_Mutation_p.A146V|FAM64A_ENST00000571373.1_Missense_Mutation_p.A146V|FAM64A_ENST00000570337.2_Missense_Mutation_p.A146V|FAM64A_ENST00000572595.2_Missense_Mutation_p.A177V|FAM64A_ENST00000576056.1_Missense_Mutation_p.A146V	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	146					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTGTCTGGAGCCGCCCCTGCC	0.652																																																	0								ENSG00000129195						27	32	30					17																	6350925		2203	4300	6503	FAM64A	SO:0001583	missense	0			-	HGNC		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.437C>T	17.37:g.6350925C>T	ENSP00000250056:p.Ala146Val	Somatic	0	95	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	58	39.80	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP							pfam_DUF1466	p.A146V	ENST00000250056.8	37	c.437	CCDS56016.1	17	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200109	0.58126	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.52057	0.68	4.9	4.9	0.64082	.	0.936787	0.08991	N	0.864373	T	0.58235	0.2108	M	0.63428	1.95	0.09310	N	1	P;P	0.47253	0.892;0.78	P;B	0.51974	0.686;0.38	T	0.48043	-0.9069	10	0.24483	T	0.36	-8.0434	13.4474	0.61148	0.0:1.0:0.0:0.0	.	146;146	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	V	146	ENSP00000250056:A146V	ENSP00000250056:A146V	A	+	2	0	FAM64A	6291649	0.000000	0.05858	0.059000	0.19551	0.454000	0.32378	0.885000	0.28227	2.564000	0.86499	0.563000	0.77884	GCC	-	pfam_DUF1466		0.652	FAM64A-008	KNOWN	basic|CCDS	protein_coding	FAM64A	protein_coding	OTTHUMT00000439156.1	C	NM_019013	-		6350925	1	no_errors	ENST00000250056	ensembl	human	known	74_37	missense	SNP	0.142	T	T	6350925	C	T	6350925	3	4	122	1	0	0	0	0	1	0	0	0	5600	739	26	2	443	2	FAM64A	17	6350925	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	63	6350925	74844285	46	9061											
SLC16A11	162515	genome.wustl.edu	37	chr17	6946314	6946314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaagccgagaagacgaagCccagcgaggcgaggacgccc	15	13	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:6946314C>T	ENST00000308009.1	-	2	690	c.353G>A	c.(352-354)gGc>gAc	p.G118D	SLC16A11_ENST00000447225.1_Missense_Mutation_p.G94D	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	118					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GAAGACGAAGCCCAGCGAGGC	0.697																																																	0								ENSG00000174326						21	26	25					17																	6946314		2196	4296	6492	SLC16A11	SO:0001583	missense	0			-	HGNC	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.353G>A	17.37:g.6946314C>T	ENSP00000310490:p.Gly118Asp	Somatic	0	75	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26		Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G118D	ENST00000308009.1	37	c.353	CCDS11086.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038626	0.93630	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.62364	0.03;0.03	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.91872	3.25	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.86784	0.1981	10	0.87932	D	0	.	16.2712	0.82622	0.0:1.0:0.0:0.0	.	118	Q8NCK7	MOT11_HUMAN	D	118;94	ENSP00000310490:G118D;ENSP00000394449:G94D	ENSP00000310490:G118D	G	-	2	0	SLC16A11	6887038	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.097000	0.57741	2.708000	0.92522	0.555000	0.69702	GGC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.697	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	protein_coding	OTTHUMT00000219921.1	C	NM_153357	-		6946314	-1	no_errors	ENST00000308009	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6946314	C	T	6946314	3	4	122	1	0	0	0	0	1	0	0	0	14412	739	26	2	1074	2	SLC16A11	17	6946314	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	595389	6946314	74248896	47	9062											
GPS2	2874	genome.wustl.edu	37	chr17	7216153	7216153	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggttggctggtagctgcaaaGcccgactggtggtggtgatg	18	7	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:7216153G>C	ENST00000380728.2	-	11	1206	c.906C>G	c.(904-906)ggC>ggG	p.G302G	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Intron|GPS2_ENST00000389167.5_Silent_p.G302G			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	302					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TAGCTGCAAAGCCCGACTGGT	0.512																																																	0								ENSG00000132522						153	151	152					17																	7216153		2203	4300	6503	GPS2	SO:0001819	synonymous_variant	0			-	HGNC	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.906C>G	17.37:g.7216153G>C		Somatic	0	43	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	B4DXA1|Q6FHM8	Silent	SNP							NULL	p.G302	ENST00000380728.2	37	c.906	CCDS11100.1	17																																																																																			-	NULL		0.512	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	protein_coding	OTTHUMT00000220048.4	G	NM_004489	-		7216153	-1	no_errors	ENST00000380728	ensembl	human	known	74_37	silent	SNP	1.000	C	C	7216153	G	C	7216153	2	2	122	1	0	0	0	0	0	0	0	1	6735	958	34	4		4	GPS2	17	7216153	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	269839	7216153	73979057	48	9063											
GPS2	2874	genome.wustl.edu	37	chr17	7216578	7216578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcatgttccatctgcttttGcaaggacagggcaccaccag	10	12	1	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:7216578G>C	ENST00000380728.2	-	9	1057	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.Q253E|GPS2_ENST00000389167.5_Missense_Mutation_p.Q253E			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	253					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ATCTGCTTTTGCAAGGACAGG	0.547											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132522						128	124	125					17																	7216578		2203	4300	6503	GPS2	SO:0001583	missense	0			-	HGNC	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.757C>G	17.37:g.7216578G>C	ENSP00000370104:p.Gln253Glu	Somatic	0	42	0	640	0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	B4DXA1|Q6FHM8	Missense_Mutation	SNP							NULL	p.Q253E	ENST00000380728.2	37	c.757	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212773	0.58452	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.59364	0.27;0.27	4.72	3.75	0.43078	.	0.000000	0.64402	U	0.000001	T	0.62183	0.2407	L	0.29908	0.895	0.58432	D	0.999996	P	0.52577	0.954	D	0.65140	0.932	T	0.65397	-0.6178	10	0.87932	D	0	1.6449	11.8193	0.52228	0.0867:0.0:0.9133:0.0	.	253	Q13227	GPS2_HUMAN	E	253	ENSP00000370104:Q253E;ENSP00000379841:Q253E	ENSP00000319371:Q253E	Q	-	1	0	GPS2	7157302	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.500000	0.90498	1.204000	0.43247	0.643000	0.83706	CAA	-	NULL		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	protein_coding	OTTHUMT00000220048.4	G	NM_004489	-		7216578	-1	no_errors	ENST00000380728	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7216578	G	C	7216578	3	2	122	1	0	0	0	0	1	0	0	0	6735	1328	46	4	238	4	GPS2	17	7216578	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	425	7216578	73978632	49	9064											
DDX52	11056	genome.wustl.edu	37	chr17	36003427	36003427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccccgcgccgagccggCgaaagagatcgtggacgtcc	15	15	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:36003427C>T	ENST00000349699.2	-	1	66	c.23G>A	c.(22-24)cGc>cAc	p.R8H	RP11-697E22.2_ENST00000586950.1_RNA|RP11-697E22.2_ENST00000586163.1_RNA|DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	8						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GCCGAGCCGGCGAAAGAGATC	0.632																																																	0								ENSG00000141141						45	46	46					17																	36003427		2203	4300	6503	DDX52	SO:0001583	missense	0			-	HGNC	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.23G>A	17.37:g.36003427C>T	ENSP00000268854:p.Arg8His	Somatic	0	83	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	22	60.71	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R8H	ENST00000349699.2	37	c.23	CCDS11323.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.150916	0.94645	.	.	ENSG00000141141	ENST00000349699	T	0.18174	2.23	5.5	5.5	0.81552	.	1.579570	0.03037	N	0.152895	T	0.46619	0.1402	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.01444	-1.1353	10	0.72032	D	0.01	.	14.7704	0.69671	0.0:1.0:0.0:0.0	.	8	Q9Y2R4	DDX52_HUMAN	H	8	ENSP00000268854:R8H	ENSP00000268854:R8H	R	-	2	0	DDX52	33077540	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.716000	0.54904	2.861000	0.98227	0.655000	0.94253	CGC	-	NULL		0.632	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX52	protein_coding	OTTHUMT00000256795.1	C	NM_152300	-		36003427	-1	no_errors	ENST00000349699	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36003427	C	T	36003427	3	4	122	1	0	0	0	0	1	0	0	0	4372	768	27	1	1836	1	DDX52	17	36003427	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	28786849	36003427	45191783	50	9065											
ABCA9	10350	genome.wustl.edu	37	chr17	66986977	66986977	+	Splice_Site	SNP	C	C	T													aagaacatttctgagttctaCctcatcaaagtctcgcacag							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:66986977C>T	ENST00000340001.4	-	29	4049		c.e29+1		ABCA9_ENST00000453985.2_Splice_Site|ABCA9_ENST00000370732.2_Splice_Site|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9						transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGAGTTCTACCTCATCAAAG	0.378																																																	0								ENSG00000154258						171	147	155					17																	66986977		2203	4300	6503	ABCA9	SO:0001630	splice_region_variant	0			-	HGNC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3837+1G>A	17.37:g.66986977C>T		Somatic	0	70	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	75	24.24	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Splice_Site	SNP							-	e28+1	ENST00000340001.4	37	c.3837+1	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738258	0.30774	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7247	0.88362	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA9	64498572	1.000000	0.71417	0.992000	0.48379	0.045000	0.14185	4.461000	0.60115	2.541000	0.85698	0.655000	0.94253	.	-	-		0.378	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	protein_coding	OTTHUMT00000277072.2	C	NM_172386	-	Intron	66986977	-1	no_errors	ENST00000340001	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	66986977	C	T	66986977	5	4	122	1	0	0	0	0	0	0	1	0	39	521	18	2	1080	2	ABCA9	17	66986977	Splice_Site	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	30983550	66986977	14208233	51	9066	161	3	2	71		4	2	45	N	C	9.522513e-05
ABCA9	10350	genome.wustl.edu	37	chr17	66986978	66986978	+	Splice_Site	SNP	C	C	T													agaacatttctgagttctacCtcatcaaagtctcgcacagc					rs576565979		TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:66986978C>T	ENST00000340001.4	-	29	4048	c.3837G>A	c.(3835-3837)gaG>gaA	p.E1279E	ABCA9_ENST00000453985.2_Splice_Site_p.E1241E|ABCA9_ENST00000370732.2_Splice_Site_p.E1279E|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1279					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAGTTCTACCTCATCAAAGT	0.383																																																	0								ENSG00000154258						171	147	155					17																	66986978		2203	4300	6503	ABCA9	SO:0001630	splice_region_variant	0			-	HGNC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3837+1G>A	17.37:g.66986978C>T		Somatic	0	69	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	73	24.49	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1279	ENST00000340001.4	37	c.3837	CCDS11681.1	17																																																																																			-	NULL		0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	protein_coding	OTTHUMT00000277072.2	C	NM_172386	-	Silent	66986978	-1	no_errors	ENST00000340001	ensembl	human	known	74_37	silent	SNP	1.000	T	T	66986978	C	T	66986978	5	4	122	1	0	0	0	0	0	0	1	0	39	695	24	2	1081	2	ABCA9	17	66986978	Splice_Site	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	1	66986978	14208232	52	9067	161	3	2	71		4	2	45	N	C	9.522513e-05
ABCA9	10350	genome.wustl.edu	37	chr17	66986980	66986980	+	Missense_Mutation	SNP	C	C	T													aacatttctgagttctacctCatcaaagtctcgcacagcca							TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:66986980C>T	ENST00000340001.4	-	29	4046	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K	ABCA9_ENST00000453985.2_Missense_Mutation_p.E1241K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E1279K|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1279					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTTCTACCTCATCAAAGTCT	0.388																																																	0								ENSG00000154258						171	147	156					17																	66986980		2203	4300	6503	ABCA9	SO:0001583	missense	0			-	HGNC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3835G>A	17.37:g.66986980C>T	ENSP00000342216:p.Glu1279Lys	Somatic	0	68	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	73	24.49	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1279K	ENST00000340001.4	37	c.3835	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276150	0.59649	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88586	-2.25;-2.4	5.4	4.42	0.53409	.	0.145067	0.30723	N	0.009003	D	0.94009	0.8081	M	0.79123	2.44	0.39576	D	0.969351	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94854	0.8016	10	0.62326	D	0.03	.	14.7835	0.69784	0.0:0.8545:0.1454:0.0	.	1279;1279	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	1279;1224;1279	ENSP00000342216:E1279K;ENSP00000359767:E1279K	ENSP00000342216:E1279K	E	-	1	0	ABCA9	64498575	0.995000	0.38212	0.840000	0.33206	0.024000	0.10985	3.412000	0.52679	1.262000	0.44165	0.655000	0.94253	GAG	-	NULL		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	protein_coding	OTTHUMT00000277072.2	C	NM_172386	-		66986980	-1	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	SNP	0.993	T	T	66986980	C	T	66986980	3	4	122	1	0	0	0	0	1	0	0	0	39	835	29	2	1083	2	ABCA9	17	66986980	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	2	66986980	14208230	53	9068	161	3	2	71		4	2	45	N	C	9.522513e-05
ABCA9	10350	genome.wustl.edu	37	chr17	66987021	66987021	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagcattcactgttctcattCtttccatctggatatcttcc	4	12	5	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:66987021C>T	ENST00000340001.4	-	29	4005	c.3794G>A	c.(3793-3795)aGa>aAa	p.R1265K	ABCA9_ENST00000453985.2_Missense_Mutation_p.R1227K|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1265K|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1265					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGTTCTCATTCTTTCCATCTG	0.388																																																	0								ENSG00000154258						202	170	181					17																	66987021		2203	4300	6503	ABCA9	SO:0001583	missense	0			-	HGNC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3794G>A	17.37:g.66987021C>T	ENSP00000342216:p.Arg1265Lys	Somatic	0	75	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	69	27.84	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1265K	ENST00000340001.4	37	c.3794	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480236	0.63849	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.89875	-2.39;-2.58	5.4	5.4	0.78164	.	0.000000	0.51477	D	0.000091	D	0.93588	0.7953	L	0.61387	1.9	0.38275	D	0.942253	D;D	0.89917	1.0;0.975	D;P	0.97110	1.0;0.751	D	0.94638	0.7828	10	0.62326	D	0.03	.	17.7247	0.88362	0.0:1.0:0.0:0.0	.	1265;1265	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	1265;1210;1265	ENSP00000342216:R1265K;ENSP00000359767:R1265K	ENSP00000342216:R1265K	R	-	2	0	ABCA9	64498616	0.993000	0.37304	0.962000	0.40283	0.342000	0.28953	3.059000	0.49947	2.541000	0.85698	0.655000	0.94253	AGA	-	NULL		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	protein_coding	OTTHUMT00000277072.2	C	NM_172386	-		66987021	-1	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	SNP	0.997	T	T	66987021	C	T	66987021	3	4	122	1	0	0	0	0	1	0	0	0	39	913	32	2	1124	2	ABCA9	17	66987021	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	41	66987021	14208189	54	9069			2	71		4	2	45	N	C	9.522513e-05
ITGB4	3691	genome.wustl.edu	37	chr17	73728050	73728050	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgtgtgcacctgcgAgctggtacaacgcagccccg	13	13	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr17:73728050A>T	ENST00000200181.3	+	11	1560	c.1373A>T	c.(1372-1374)gAg>gTg	p.E458V	ITGB4_ENST00000579662.1_Missense_Mutation_p.E458V|ITGB4_ENST00000449880.2_Missense_Mutation_p.E458V|ITGB4_ENST00000339591.3_Missense_Mutation_p.E458V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.E458V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	458	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCACCTGCGAGCTGGTACAA	0.617																																																	0								ENSG00000132470						72	60	64					17																	73728050		2203	4300	6503	ITGB4	SO:0001583	missense	0			-	HGNC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1373A>T	17.37:g.73728050A>T	ENSP00000200181:p.Glu458Val	Somatic	0	45	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP							pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.E458V	ENST00000200181.3	37	c.1373	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	A	7.946	0.743783	0.15642	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.78924	-1.22;-1.17;-1.17	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.86493	0.5946	M	0.79614	2.46	0.80722	D	1	D;P;D;D;D	0.89917	0.998;0.925;1.0;1.0;1.0	D;P;D;D;D	0.83275	0.969;0.792;0.996;0.988;0.988	D	0.87668	0.2539	10	0.87932	D	0	.	10.2463	0.43343	0.8521:0.0:0.0:0.1479	.	418;458;458;458;458	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	V	374;458;458;458	ENSP00000200181:E458V;ENSP00000344079:E458V;ENSP00000400217:E458V	ENSP00000200181:E458V	E	+	2	0	ITGB4	71239645	0.947000	0.32204	1.000000	0.80357	0.166000	0.22503	2.880000	0.48530	1.878000	0.54408	0.529000	0.55759	GAG	-	pirsf_Integrin_bsu-4		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	protein_coding	OTTHUMT00000448334.1	A		-		73728050	1	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73728050	A	T	73728050	3	4	122	1	0	0	0	0	1	0	0	0	7899	304	11	5	1411	5	ITGB4	17	73728050	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09	6741029	73728050	7467160	55	9070											
TUBB4	10382	genome.wustl.edu	37	chr19	6501350	6501350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggggccagaacggacAgagtccatggtgccgggttc	16	11	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr19:6501350A>G	ENST00000264071.2	-	3	596	c.225T>C	c.(223-225)tcT>tcC	p.S75S	TUBB4A_ENST00000601152.1_Missense_Mutation_p.L50P|TUBB4A_ENST00000540257.1_Silent_p.S75S|TUBB4A_ENST00000596926.1_Silent_p.S75S|TUBB4A_ENST00000598006.1_Missense_Mutation_p.L61P			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	75					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|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)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CAGAACGGACAGAGTCCATGG	0.587																																																	0								ENSG00000104833						53	48	50					19																	6501350		2203	4300	6503	TUBB4A	SO:0001819	synonymous_variant	0			-	HGNC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.225T>C	19.37:g.6501350A>G		Somatic	0	44	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	73	16.09	B3KQP4|Q969E5	Missense_Mutation	SNP							superfamily_Tubulin_FtsZ_GTPase	p.L61P	ENST00000264071.2	37	c.182	CCDS12168.1	19																																																																																			-	NULL		0.587	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	protein_coding	OTTHUMT00000457841.1	A	NM_006087	-		6501350	-1	no_errors	ENST00000598006	ensembl	human	putative	74_37	missense	SNP	0.184	G	G	6501350	A	G	6501350	2	3	122	1	0	0	0	0	0	0	0	1	16765	175	7	5		5	TUBB4	19	6501350	Silent	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09		6501350	52627633	56	9071											
FCGBP	8857	genome.wustl.edu	37	chr19	40376983	40376983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttgccgaactcattggcGttgcctgcctgcgagccatt	12	12	1	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr19:40376983G>T	ENST00000221347.6	-	24	11446	c.11439C>A	c.(11437-11439)aaC>aaA	p.N3813K	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3813	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)			ACTCATTGGCGTTGCCTGCCT	0.652																																																	0								ENSG00000090920						3	3	3					19																	40376983		1504	3074	4578	FCGBP	SO:0001583	missense	0			-	HGNC	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.11439C>A	19.37:g.40376983G>T	ENSP00000221347:p.Asn3813Lys	Somatic	0	45	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.N3813K	ENST00000221347.6	37	c.11439	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	8.859	0.946480	0.18356	.	.	ENSG00000090920	ENST00000221347	T	0.18657	2.2	3.75	2.7	0.31948	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.18383	0.0441	M	0.72894	2.215	0.09310	N	1	P	0.38827	0.649	B	0.26693	0.072	T	0.12837	-1.0532	9	0.39692	T	0.17	.	7.3552	0.26714	0.2324:0.0:0.7676:0.0	.	3813	Q9Y6R7	FCGBP_HUMAN	K	3813	ENSP00000221347:N3813K	ENSP00000221347:N3813K	N	-	3	2	FCGBP	45068823	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	0.112000	0.15479	0.646000	0.30693	0.313000	0.20887	AAC	-	NULL		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890	-		40376983	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.000	T	T	40376983	G	T	40376983	3	4	122	1	0	0	0	0	1	0	0	0	5780	1136	40	3	4830	3	FCGBP	19	40376983	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	33875633	40376983	18752000	57	9072											
BCKDHA	593	genome.wustl.edu	37	chr19	41928996	41928996	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaccaccccatctcccgGctgcggcactatctgctgag	10	17	2	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr19:41928996G>T	ENST00000269980.2	+	8	1457	c.1089G>T	c.(1087-1089)cgG>cgT	p.R363R	CTC-435M10.3_ENST00000540732.1_Silent_p.R397R|BCKDHA_ENST00000457836.2_Silent_p.R366R|BCKDHA_ENST00000595085.1_Silent_p.R397R|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	363					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCATCTCCCGGCTGCGGCACT	0.627																																																	0								ENSG00000248098						52	45	47					19																	41928996		2196	4296	6492	BCKDHA	SO:0001819	synonymous_variant	0			-	HGNC	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.1089G>T	19.37:g.41928996G>T		Somatic	0	41	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	B4DP47|E7EW46|Q16034|Q16472	Silent	SNP							pfam_DH_E1,pfam_Transketolase_N	p.R397	ENST00000269980.2	37	c.1191	CCDS12581.1	19																																																																																			-	pfam_DH_E1		0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	protein_coding	OTTHUMT00000398313.3	G	NM_000709	-		41928996	1	no_errors	ENST00000595085	ensembl	human	known	74_37	silent	SNP	0.877	T	T	41928996	G	T	41928996	2	4	122	1	0	0	0	0	0	0	0	1	1359	1190	42	3		3	BCKDHA	19	41928996	Silent	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	1552013	41928996	17199987	58	9073											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47424544	47424544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctttggctatgttacGtgcctttctttgtgaagtgc	11	9	2	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr19:47424544G>T	ENST00000404338.3	+	1	2612	c.2612G>T	c.(2611-2613)cGt>cTt	p.R871L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	871					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)	p.R871P(2)									GCTATGTTACGTGCCTTTCTT	0.438																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000160007						138	134	135					19																	47424544		1931	4148	6079	ARHGAP35	SO:0001583	missense	0			-	HGNC	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.2612G>T	19.37:g.47424544G>T	ENSP00000385720:p.Arg871Leu	Somatic	0	82	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	79	37.80	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R871L	ENST00000404338.3	37	c.2612	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420144	0.62622	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.42131	0.98	5.79	5.79	0.91817	.	0.094092	0.85682	D	0.000000	T	0.39937	0.1097	L	0.41824	1.3	0.58432	D	0.999999	P	0.45212	0.853	B	0.40285	0.325	T	0.30179	-0.9987	10	0.56958	D	0.05	-9.825	18.8035	0.92028	0.0:0.0:1.0:0.0	.	871	Q9NRY4-2	.	L	871	ENSP00000385720:R871L	ENSP00000324820:R871L	R	+	2	0	ARHGAP35	52116384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.743000	0.94032	0.655000	0.94253	CGT	-	NULL		0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	G	NM_004491	-		47424544	1	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47424544	G	T	47424544	3	4	122	1	0	0	0	0	1	0	0	0	6797	1145	40	3	2614	3	ARHGAP35	19	47424544	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	5495548	47424544	11704439	59	9074											
SIGLEC11	114132	genome.wustl.edu	37	chr19	50462106	50462106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagaccaggcgcaggCtttggccctccaggaccggg	14	14	0	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr19:50462106C>A	ENST00000447370.2	-	7	1247	c.1157G>T	c.(1156-1158)aGc>aTc	p.S386I	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S386I|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	386	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGGCGCAGGCTTTGGCCCTC	0.682																																																	0								ENSG00000161640						31	36	34					19																	50462106		2202	4300	6502	SIGLEC11	SO:0001583	missense	0			-	HGNC	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"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"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1157G>T	19.37:g.50462106C>A	ENSP00000412361:p.Ser386Ile	Somatic	0	100	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	91	18.58		Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S386I	ENST00000447370.2	37	c.1157	CCDS12790.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.69|17.69	3.451092|3.451092	0.63290|0.63290	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.27104	.|1.69	3.24|3.24	0.719|0.719	0.18208|0.18208	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|1.238520	.|0.05362	.|N	.|0.533920	T|T	0.60663|0.60663	0.2286|0.2286	H|H	0.95850|0.95850	3.73|3.73	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.994	T|T	0.25467|0.25467	-1.0131|-1.0131	5|10	.|0.66056	.|D	.|0.02	.|.	4.3257|4.3257	0.11039|0.11039	0.0:0.359:0.44:0.201|0.0:0.359:0.44:0.201	.|.	.|386;386	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	S|I	376|386	.|ENSP00000412361:S386I	.|ENSP00000412361:S386I	A|S	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153918|55153918	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.736000|0.736000	0.42039|0.42039	-2.596000|-2.596000	0.00895|0.00895	0.654000|0.654000	0.30846|0.30846	0.556000|0.556000	0.70494|0.70494	GCC|AGC	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	protein_coding	OTTHUMT00000347382.1	C	NM_052884	-		50462106	-1	no_errors	ENST00000447370	ensembl	human	known	74_37	missense	SNP	0.009	A	A	50462106	C	A	50462106	3	1	122	1	0	0	0	0	1	0	0	0	14315	797	28	3	959	3	SIGLEC11	19	50462106	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	3037562	50462106	8666877	60	9075											
ZNF880	400713	genome.wustl.edu	37	chr19	52873225	52873225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagtgacggtcatgctgCggcgtgtgagtttccctttg	16	8	1	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr19:52873225C>T	ENST00000422689.2	+	1	22	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	ZNF880_ENST00000424032.2_Missense_Mutation_p.R3W|ZNF880_ENST00000344085.5_Missense_Mutation_p.R3W|ZNF880_ENST00000600321.1_Missense_Mutation_p.R3W|ZNF880_ENST00000597976.1_Missense_Mutation_p.R3W	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	3					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGTCATGCTGCGGCGTGTGAG	0.602																																																	0								ENSG00000221923						183	173	176					19																	52873225		692	1591	2283	ZNF880	SO:0001583	missense	0			-	HGNC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.7C>T	19.37:g.52873225C>T	ENSP00000406318:p.Arg3Trp	Somatic	0	84	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	72	34.55	B4DNA6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R3W	ENST00000422689.2	37	c.7	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822957	0.50739	.	.	ENSG00000221923	ENST00000424032;ENST00000344085;ENST00000422689	T;T;T	0.06768	5.37;5.4;3.26	0.783	-1.57	0.08506	Krueppel-associated box (1);	.	.	.	.	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	B	0.43701	0.428	T	0.27571	-1.0070	9	0.87932	D	0	.	2.1969	0.03913	0.0:0.3545:0.3416:0.3039	.	3	Q6PDB4	ZN880_HUMAN	W	3	ENSP00000414470:R3W;ENSP00000343625:R3W;ENSP00000406318:R3W	ENSP00000343625:R3W	R	+	1	2	ZNF880	57565037	0.000000	0.05858	0.011000	0.14972	0.789000	0.44602	-2.056000	0.01396	-0.884000	0.03976	0.289000	0.19496	CGG	-	superfamily_Krueppel-associated_box		0.602	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	protein_coding	OTTHUMT00000397374.1	C	NM_001145434	-		52873225	1	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	SNP	0.014	T	T	52873225	C	T	52873225	3	4	122	1	0	0	0	0	1	0	0	0	18204	759	27	1	9	1	ZNF880	19	52873225	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	2411119	52873225	6255758	61	9076											
ELMO2	63916	genome.wustl.edu	37	chr20	45000515	45000515	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtagaatctcagagtAactcaggctacgcaatttgc	9	10	2	2			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr20:45000515A>T	ENST00000290246.6	-	17	1704	c.1510T>A	c.(1510-1512)Tac>Aac	p.Y504N	ELMO2_ENST00000352077.2_Missense_Mutation_p.Y502N|ELMO2_ENST00000445496.2_Missense_Mutation_p.Y321N|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y516N|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y504N|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000454865.2_Missense_Mutation_p.Y236N|ELMO2_ENST00000372176.1_Missense_Mutation_p.Y416N	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	504					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATCTCAGAGTAACTCAGGCTA	0.517																																																	0								ENSG00000062598						83	79	80					20																	45000515		2203	4300	6503	ELMO2	SO:0001583	missense	0			-	HGNC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1510T>A	20.37:g.45000515A>T	ENSP00000290246:p.Tyr504Asn	Somatic	0	19	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.00	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP							pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Y516N	ENST00000290246.6	37	c.1546	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478482	0.84747	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.55588	2.05;1.79;0.51;2.05;2.02;1.49;1.53;2.05	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.935;0.999;0.993;0.996	T	0.78463	-0.2194	10	0.87932	D	0	-19.4805	13.5889	0.61948	1.0:0.0:0.0:0.0	.	516;236;321;504	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	N	504;416;71;504;516;321;236;502	ENSP00000290246:Y504N;ENSP00000361249:Y416N;ENSP00000414329:Y71N;ENSP00000379673:Y504N;ENSP00000396519:Y516N;ENSP00000409920:Y321N;ENSP00000415641:Y236N;ENSP00000326172:Y502N	ENSP00000290246:Y504N	Y	-	1	0	ELMO2	44433922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.042000	0.60477	0.533000	0.62120	TAC	-	NULL		0.517	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	protein_coding	OTTHUMT00000080466.1	A	NM_022086	-		45000515	-1	no_errors	ENST00000439931	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45000515	A	T	45000515	3	4	122	1	0	0	0	0	1	0	0	0	5068	362	13	5	676	5	ELMO2	20	45000515	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09		45000515	18025005	62	9077											
STX16	8675	genome.wustl.edu	37	chr20	57244444	57244444	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcttgggaacgtggtggcctCgctggcgcaggccctgcagg	18	12	0	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr20:57244444C>G	ENST00000371141.4	+	5	1215	c.491C>G	c.(490-492)tCg>tGg	p.S164W	STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.S164W|STX16_ENST00000361830.3_Missense_Mutation_p.S164W|STX16_ENST00000371132.4_Missense_Mutation_p.S143W|STX16_ENST00000358029.4_Missense_Mutation_p.S160W|STX16_ENST00000355957.5_Missense_Mutation_p.S147W|STX16_ENST00000359617.4_Missense_Mutation_p.S111W|STX16_ENST00000361770.5_Missense_Mutation_p.S147W|STX16_ENST00000496003.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	164					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTGGTGGCCTCGCTGGCGCAG	0.677																																																	0								ENSG00000254995						16	19	18					20																	57244444		2195	4286	6481	STX16-NPEPL1	SO:0001583	missense	0			-	HGNC	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.491C>G	20.37:g.57244444C>G	ENSP00000360183:p.Ser164Trp	Somatic	0	105	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	91	31.06	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP							pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S164W	ENST00000371141.4	37	c.491	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.304822	0.95601	.	.	ENSG00000124222	ENST00000458280;ENST00000355957;ENST00000361770;ENST00000312283;ENST00000412911;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253	T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.87	5.87	0.94306	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.56934	0.2019	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.67145	0.987;0.992;0.996;0.995	D;P;D;D	0.69479	0.936;0.834;0.964;0.958	T	0.65055	-0.6261	10	0.72032	D	0.01	.	19.1915	0.93669	0.0:1.0:0.0:0.0	.	160;147;143;164	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	W	111;147;147;111;111;111;164;111;143;160;164;106	ENSP00000388348:S111W;ENSP00000348229:S147W;ENSP00000355408:S147W;ENSP00000312086:S111W;ENSP00000416852:S111W;ENSP00000352634:S111W;ENSP00000360183:S164W;ENSP00000360173:S143W;ENSP00000350723:S160W;ENSP00000354445:S164W;ENSP00000401801:S106W	ENSP00000360180:S111W	S	+	2	0	STX16	56677850	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.552000	0.60747	2.779000	0.95612	0.655000	0.94253	TCG	-	pfam_Syntaxin_N,superfamily_t-SNARE		0.677	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	protein_coding	OTTHUMT00000080517.2	C	NM_001001433	-		57244444	1	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	SNP	1.000	G	G	57244444	C	G	57244444	3	3	122	1	0	0	0	0	1	0	0	0	15346	893	31	4	509	4	STX16	20	57244444	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	12243929	57244444	5781076	63	9078											
GATA5	140628	genome.wustl.edu	37	chr20	61040892	61040892	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagggcctggccacgcacctGaggagcccctggccttggcg	15	16	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr20:61040892G>T	ENST00000252997.2	-	5	972	c.911C>A	c.(910-912)tCa>tAa	p.S304*		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	304					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|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)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCACGCACCTGAGGAGCCCCT	0.637																																																	0								ENSG00000130700						85	80	82					20																	61040892		2197	4298	6495	GATA5	SO:0001587	stop_gained	0			-	HGNC	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.911C>A	20.37:g.61040892G>T	ENSP00000252997:p.Ser304*	Somatic	0	32	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	D9ZGF7|Q17RE2|Q86VU4	Nonsense_Mutation	SNP							pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA	p.S304*	ENST00000252997.2	37	c.911	CCDS13499.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167626	0.78339	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	.	.	.	4.89	4.89	0.63831	.	0.414233	0.25654	N	0.029193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9998	18.0292	0.89278	0.0:0.0:1.0:0.0	.	.	.	.	X	304;324;304	.	ENSP00000252997:S304X	S	-	2	0	GATA5	60474287	1.000000	0.71417	0.120000	0.21714	0.083000	0.17756	5.464000	0.66719	2.255000	0.74692	0.313000	0.20887	TCA	-	pirsf_TF_GATA_4/5/6		0.637	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA5	protein_coding	OTTHUMT00000080038.2	G	NM_080473	-		61040892	-1	no_errors	ENST00000252997	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	61040892	G	T	61040892	4	4	122	1	0	0	0	0	0	1	0	0	6259	1294	45	3	294	3	GATA5	20	61040892	Nonsense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	3796448	61040892	1984628	64	9079											
DSCAM	1826	genome.wustl.edu	37	chr21	42080608	42080608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctgctgcggggcaggGcaccagagtccccgtggtgc	17	13	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr21:42080608G>T	ENST00000400454.1	-	2	610	c.133C>A	c.(133-135)Ccc>Acc	p.P45T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	45	Ig-like C2-type 1.				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)				GCGGGGCAGGGCACCAGAGTC	0.577																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						104	110	108					21																	42080608		2031	4180	6211	DSCAM	SO:0001583	missense	0			-	HGNC	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.133C>A	21.37:g.42080608G>T	ENSP00000383303:p.Pro45Thr	Somatic	0	49	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	45	35.21	O60468	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P45T	ENST00000400454.1	37	c.133	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266168	0.80358	.	.	ENSG00000171587	ENST00000400454	T	0.09350	2.99	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	L	0.56396	1.775	0.51482	D	0.99992	D	0.76494	0.999	D	0.85130	0.997	T	0.00855	-1.1539	10	0.24483	T	0.36	.	17.0669	0.86561	0.0:0.0:1.0:0.0	.	45	O60469	DSCAM_HUMAN	T	45	ENSP00000383303:P45T	ENSP00000383303:P45T	P	-	1	0	DSCAM	41002478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.302000	0.96175	2.547000	0.85894	0.585000	0.79938	CCC	-	smart_Ig_sub2		0.577	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	-		42080608	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42080608	G	T	42080608	3	4	122	1	0	0	0	0	1	0	0	0	4770	1203	42	3	6033	3	DSCAM	21	42080608	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09		42080608	6049287	65	9080											
SBF1	6305	genome.wustl.edu	37	chr22	50902801	50902801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaaacacgtaggagatgCagttgcgcacaacctccagc	9	14	1	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chr22:50902801C>T	ENST00000390679.3	-	15	1890	c.1706G>A	c.(1705-1707)tGc>tAc	p.C569Y	SBF1_ENST00000348911.6_Missense_Mutation_p.C570Y|SBF1_ENST00000380817.3_Missense_Mutation_p.C569Y			O95248	MTMR5_HUMAN	SET binding factor 1	569					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGGAGATGCAGTTGCGCAC	0.627																																																	0								ENSG00000100241						74	82	79					22																	50902801		2117	4225	6342	SBF1	SO:0001583	missense	0			-	HGNC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1706G>A	22.37:g.50902801C>T	ENSP00000375097:p.Cys569Tyr	Somatic	0	68	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP							pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.C569Y	ENST00000390679.3	37	c.1706		22	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623861	0.66901	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.69561	-0.41;-0.41;-0.41	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.996	D	0.84961	0.0877	10	0.72032	D	0.01	.	16.6034	0.84822	0.0:1.0:0.0:0.0	.	569;570;569	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Y	569;570;580;579;569	ENSP00000370196:C569Y;ENSP00000252027:C570Y;ENSP00000375097:C569Y	ENSP00000336522:C579Y	C	-	2	0	SBF1	49249667	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	4.535000	0.60629	2.227000	0.72691	0.462000	0.41574	TGC	-	pfam_SBF2		0.627	SBF1-201	KNOWN	basic	protein_coding	SBF1	protein_coding		C		-		50902801	-1	no_errors	ENST00000380817	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50902801	C	T	50902801	3	4	122	1	0	0	0	0	1	0	0	0	13866	710	25	2	4083	2	SBF1	22	50902801	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09		50902801	401765	66	9081											
FAM9A	171482	genome.wustl.edu	37	chrX	8764385	8764385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctttatctatttttaTcatttctctttttgcagcaa	4	8	3	0			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chrX:8764385T>C	ENST00000543214.1	-	6	547	c.412A>G	c.(412-414)Ata>Gta	p.I138V	FAM9A_ENST00000381003.3_Missense_Mutation_p.I138V	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	138						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TCTATTTTTATCATTTCTCTT	0.303																																																	0								ENSG00000183304						143	110	121					X																	8764385		2203	4297	6500	FAM9A	SO:0001583	missense	0			-	HGNC		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"testis expressed 39A"	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.412A>G	X.37:g.8764385T>C	ENSP00000440163:p.Ile138Val	Somatic	0	86	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	140	19.08	B7ZLH5|Q2M2D1	Missense_Mutation	SNP							NULL	p.I138V	ENST00000543214.1	37	c.412	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	t	1.870	-0.460489	0.04508	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	-1.36	0.09085	.	.	.	.	.	T	0.14098	0.0341	L	0.34521	1.04	0.09310	N	1	P	0.40909	0.732	B	0.28232	0.087	T	0.15263	-1.0443	7	0.27785	T	0.31	.	.	.	.	.	138	Q8IZU1	FAM9A_HUMAN	V	138	.	ENSP00000370391:I138V	I	-	1	0	FAM9A	8724385	0.209000	0.23505	0.000000	0.03702	0.001000	0.01503	-0.385000	0.07379	-0.650000	0.05423	-0.763000	0.03452	ATA	-	NULL		0.303	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	protein_coding	OTTHUMT00000055697.1	T	NM_174951	-		8764385	-1	no_errors	ENST00000381003	ensembl	human	known	74_37	missense	SNP	0.000	C	C	8764385	T	C	8764385	3	2	122	1	0	0	0	0	1	0	0	0	5661	1435	50	5	602	5	FAM9A	23	8764385	Missense_Mutation	SNP	T	TCGA-DX-AB2T-01A-11D-A387-09		8764385	146506175	67	9082											
FRMPD4	9758	genome.wustl.edu	37	chrX	12736510	12736510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgatgagagtgtggccCgcctttgtgactaccacttg	13	10	0	3			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chrX:12736510C>T	ENST00000380682.1	+	16	4071	c.3565C>T	c.(3565-3567)Cgc>Tgc	p.R1189C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1189					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGTGTGGCCCGCCTTTGTGA	0.552																																																	0								ENSG00000169933						129	117	121					X																	12736510		2203	4300	6503	FRMPD4	SO:0001583	missense	0			-	HGNC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3565C>T	X.37:g.12736510C>T	ENSP00000370057:p.Arg1189Cys	Somatic	0	59	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	A8K0X9|O15032	Missense_Mutation	SNP							pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.R1189C	ENST00000380682.1	37	c.3565	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241500	0.39598	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.11604	2.76	5.5	5.5	0.81552	.	0.328804	0.32002	N	0.006724	T	0.20820	0.0501	M	0.67953	2.075	0.41016	D	0.985049	D;D	0.71674	0.998;0.998	P;P	0.51355	0.667;0.667	T	0.00731	-1.1590	10	0.87932	D	0	-1.4847	11.2102	0.48793	0.2453:0.7547:0.0:0.0	.	1181;1189	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	C	1189;1180;1178	ENSP00000370057:R1189C	ENSP00000304583:R1178C	R	+	1	0	FRMPD4	12646431	1.000000	0.71417	0.924000	0.36721	0.305000	0.27757	2.698000	0.47068	2.295000	0.77249	0.600000	0.82982	CGC	-	NULL		0.552	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	C	XM_045712	-		12736510	1	no_errors	ENST00000380682	ensembl	human	known	74_37	missense	SNP	0.906	T	T	12736510	C	T	12736510	3	4	122	1	0	0	0	0	1	0	0	0	6061	652	23	1	3627	1	FRMPD4	23	12736510	Missense_Mutation	SNP	C	TCGA-DX-AB2T-01A-11D-A387-09	3972125	12736510	142534050	68	9083											
SLC38A5	92745	genome.wustl.edu	37	chrX	48318218	48318218	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccacatgtcgtggccagctGaaggccttgcctgggaaaag	14	11	0	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chrX:48318218G>T	ENST00000376876.3	-	14	1956	c.1113C>A	c.(1111-1113)ttC>ttA	p.F371L	SLC38A5_ENST00000317669.5_Missense_Mutation_p.F371L|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.F320L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	371					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTGGCCAGCTGAAGGCCTTGC	0.572																																																	0								ENSG00000017483						64	50	55					X																	48318218		2203	4300	6503	SLC38A5	SO:0001583	missense	0			-	HGNC	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1113C>A	X.37:g.48318218G>T	ENSP00000366073:p.Phe371Leu	Somatic	0	75	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.F371L	ENST00000376876.3	37	c.1113	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	27.0	4.795467	0.90453	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02216	4.39;4.39;4.39	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	M	0.89534	3.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.00074	-1.2124	10	0.87932	D	0	.	9.121	0.36786	0.1015:0.0:0.8985:0.0	.	371	Q8WUX1	S38A5_HUMAN	L	371;320;371	ENSP00000366073:F371L;ENSP00000366071:F320L;ENSP00000313740:F371L	ENSP00000313740:F371L	F	-	3	2	SLC38A5	48203162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.826000	0.55738	2.227000	0.72691	0.529000	0.55759	TTC	-	pfam_AA_transpt_TM		0.572	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	G	NM_033518	-		48318218	-1	no_errors	ENST00000317669	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48318218	G	T	48318218	3	4	122	1	0	0	0	0	1	0	0	0	14615	1281	45	3	317	3	SLC38A5	23	48318218	Missense_Mutation	SNP	G	TCGA-DX-AB2T-01A-11D-A387-09	35581708	48318218	106952342	69	9084											
CD99L2	83692	genome.wustl.edu	37	chrX	149984546	149984546	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtgtggtcccAtggctctaaaagggagaggg	20	5	1	1			TCGA-DX-AB2T-01A-11D-A387-09	TCGA-DX-AB2T-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c27e85-9f63-432f-9f40-f13eb3b26250	134d8858-9c2e-406f-8d0c-2fc7433f4cb5	g.chrX:149984546A>T	ENST00000370377.3	-	3	253	c.136T>A	c.(136-138)Tgg>Agg	p.W46R	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.W46R	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	46					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGGTCCCATGGCTCTAAA	0.517																																																	0								ENSG00000102181						277	214	235					X																	149984546		2203	4300	6503	CD99L2	SO:0001583	missense	0			-	HGNC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.136T>A	X.37:g.149984546A>T	ENSP00000359403:p.Trp46Arg	Somatic	0	113	0		0.558232468537105				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	100	36.31	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP							pfam_CD99L2	p.W46R	ENST00000370377.3	37	c.136	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	A	13.81	2.348903	0.41599	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000437787;ENST00000418547	T	0.20200	2.09	2.37	1.2	0.21068	.	.	.	.	.	T	0.36608	0.0973	M	0.71581	2.175	0.09310	N	0.999999	B;D	0.64830	0.204;0.994	P;D	0.67725	0.471;0.953	T	0.13176	-1.0519	8	.	.	.	.	3.4908	0.07637	0.7873:0.0:0.2127:0.0	.	46;46	E9PD27;Q8TCZ2	.;C99L2_HUMAN	R	46;46;46;9	ENSP00000394858:W46R	.	W	-	1	0	CD99L2	149735204	0.949000	0.32298	0.054000	0.19295	0.434000	0.31775	1.285000	0.33261	0.238000	0.21222	0.242000	0.17961	TGG	-	NULL		0.517	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	protein_coding	OTTHUMT00000061199.1	A	NM_031462	-		149984546	-1	no_errors	ENST00000370377	ensembl	human	known	74_37	missense	SNP	0.048	T	T	149984546	A	T	149984546	3	4	122	1	0	0	0	0	1	0	0	0	3053	217	8	5	688	5	CD99L2	23	149984546	Missense_Mutation	SNP	A	TCGA-DX-AB2T-01A-11D-A387-09	101666328	149984546	5286014	70	9085											
C1orf173	127254	genome.wustl.edu	37	chr1	75037896	75037896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgttatgttttccagCgacttttcaaatccaggcgt	9	9	1	1	rs200380141		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:75037896C>T	ENST00000326665.5	-	14	3716	c.3498G>A	c.(3496-3498)tcG>tcA	p.S1166S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1166	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTTTTCCAGCGACTTTTCAA	0.478																																																	0								ENSG00000178965						92	93	93					1																	75037896		2203	4300	6503	C1orf173	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000326665.5:c.3498G>A	1.37:g.75037896C>T		Somatic	0	41	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP							NULL	p.S1166	ENST00000326665.5	37	c.3498	CCDS30755.1	1																																																																																			-	NULL		0.478	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	C		rs200380141		75037896	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	silent	SNP	0.003	T	T	75037896	C	T	75037896	2	4	123	1	0	0	0	0	0	0	0	1	2016	755	27	1		1	C1orf173	1	75037896	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		75037896	174212725	1	9086											
POGZ	23126	genome.wustl.edu	37	chr1	151384868	151384868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccattcacagatcttgcaCttggctgtaagaagaaaagt	9	9	2	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:151384868C>A	ENST00000271715.2	-	11	1997	c.1683G>T	c.(1681-1683)aaG>aaT	p.K561N	POGZ_ENST00000409503.1_Missense_Mutation_p.K552N|POGZ_ENST00000531094.1_Missense_Mutation_p.K499N|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000368863.2_Missense_Mutation_p.K466N|POGZ_ENST00000392723.1_Missense_Mutation_p.K508N|POGZ_ENST00000361398.3_Missense_Mutation_p.K508N|POGZ_ENST00000491586.1_Missense_Mutation_p.K508N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	561					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			AGATCTTGCACTTGGCTGTAA	0.383																																																	0								ENSG00000143442						80	75	77					1																	151384868		2203	4300	6503	POGZ	SO:0001583	missense	0			-	HGNC	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1683G>T	1.37:g.151384868C>A	ENSP00000271715:p.Lys561Asn	Somatic	0	119	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	32	51.52	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.K561N	ENST00000271715.2	37	c.1683	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320390	0.60634	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;5.13;2.29	4.95	4.02	0.46733	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000003	T	0.40719	0.1128	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.981;1.0;0.996;0.996;0.999	D;D;D;D;D;D	0.83275	0.991;0.966;0.996;0.99;0.99;0.991	T	0.26258	-1.0108	10	0.27082	T	0.32	-20.0585	13.3574	0.60635	0.1589:0.8411:0.0:0.0	.	499;552;466;508;508;561	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	N	508;561;508;466;552;499;508;10	ENSP00000376484:K508N;ENSP00000271715:K561N;ENSP00000354467:K508N;ENSP00000357856:K466N;ENSP00000386836:K552N;ENSP00000431259:K499N;ENSP00000418408:K508N;ENSP00000432295:K10N	ENSP00000271715:K561N	K	-	3	2	POGZ	149651492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.470000	0.45119	1.274000	0.44362	0.557000	0.71058	AAG	-	smart_Znf_C2H2-like		0.383	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	protein_coding	OTTHUMT00000034915.2	C	NM_207171	-		151384868	-1	no_errors	ENST00000271715	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151384868	C	A	151384868	3	1	123	1	0	0	0	0	1	0	0	0	12188	564	20	3	2585	3	POGZ	1	151384868	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	76346972	151384868	97865753	2	9087											
CD1A	909	genome.wustl.edu	37	chr1	158226589	158226589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagtgaagcccgaggcCtggctgtcccatggccccag	13	14	0	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:158226589C>T	ENST00000289429.5	+	4	1151	c.618C>T	c.(616-618)gcC>gcT	p.A206A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	206	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGCCCGAGGCCTGGCTGTCCC	0.507																																																	0								ENSG00000158477						65	66	65					1																	158226589		2203	4300	6503	CD1A	SO:0001819	synonymous_variant	0			-	HGNC	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.618C>T	1.37:g.158226589C>T		Somatic	0	101	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP							pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A206	ENST00000289429.5	37	c.618	CCDS1174.1	1																																																																																			-	pfscan_Ig-like_dom		0.507	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	protein_coding	OTTHUMT00000046349.2	C	NM_001763	-		158226589	1	no_errors	ENST00000289429	ensembl	human	known	74_37	silent	SNP	0.984	T	T	158226589	C	T	158226589	2	4	123	1	0	0	0	0	0	0	0	1	2976	668	24	2		2	CD1A	1	158226589	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	6841721	158226589	91024032	3	9088											
NCSTN	23385	genome.wustl.edu	37	chr1	160325530	160325530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaggacctgaactttGtaacagacactgccaaggta	10	9	0	4			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:160325530G>T	ENST00000294785.5	+	12	1563	c.1438G>T	c.(1438-1440)Gta>Tta	p.V480L	NCSTN_ENST00000368065.4_Missense_Mutation_p.V222L|NCSTN_ENST00000368063.1_Missense_Mutation_p.V460L|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Missense_Mutation_p.V342L|NCSTN_ENST00000392212.4_Missense_Mutation_p.V460L	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	480					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGAACTTTGTAACAGACAC	0.517																																																	0								ENSG00000162736						88	86	87					1																	160325530		2203	4300	6503	NCSTN	SO:0001583	missense	0			-	HGNC	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1438G>T	1.37:g.160325530G>T	ENSP00000294785:p.Val480Leu	Somatic	0	64	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	59	13.24	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP							pfam_Nicastrin	p.V480L	ENST00000294785.5	37	c.1438	CCDS1203.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.096630|3.096630	0.56075|0.56075	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000424645;ENST00000435149|ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065	.|T;T;T;T;T	.|0.71103	.|-0.54;-0.54;-0.54;-0.54;-0.54	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.126462	.|0.52532	.|D	.|0.000071	T|T	0.46464|0.46464	0.1394|0.1394	L|L	0.38838|0.38838	1.175|1.175	0.47994|0.47994	D|D	0.999561|0.999561	.|P;B;B	.|0.39352	.|0.669;0.015;0.037	.|B;B;B	.|0.30943	.|0.122;0.023;0.115	T|T	0.51694|0.51694	-0.8673|-0.8673	5|10	.|0.32370	.|T	.|0.25	-16.1456|-16.1456	16.6474|16.6474	0.85180|0.85180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|342;460;480	.|F6Y097;Q92542-2;Q92542	.|.;.;NICA_HUMAN	F|L	315;156|480;460;342;187;460;222	.|ENSP00000294785:V480L;ENSP00000357042:V460L;ENSP00000442605:V342L;ENSP00000376047:V460L;ENSP00000357044:V222L	.|ENSP00000294785:V480L	L|V	+|+	3|1	2|0	NCSTN|NCSTN	158592154|158592154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.757000|3.757000	0.55212|0.55212	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	TTG|GTA	-	pfam_Nicastrin		0.517	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	protein_coding	OTTHUMT00000080622.1	G	NM_015331	-		160325530	1	no_errors	ENST00000294785	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160325530	G	T	160325530	3	4	123	1	0	0	0	0	1	0	0	0	10243	1377	48	3	1484	3	NCSTN	1	160325530	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	2098941	160325530	88925091	4	9089											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161018648	161018648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagccttcttctgaccTttggacttctcttccttggc	7	14	4	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:161018648T>C	ENST00000368013.3	-	12	2483	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.K544K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	721	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTTCTGACCTTTGGACTTCT	0.493																																																	0								ENSG00000186517						249	262	258					1																	161018648		2203	4300	6503	ARHGAP30	SO:0001819	synonymous_variant	0			-	HGNC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2163A>G	1.37:g.161018648T>C		Somatic	0	115	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	79	33.05	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K721	ENST00000368013.3	37	c.2163	CCDS30918.1	1																																																																																			-	NULL		0.493	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	protein_coding	OTTHUMT00000077090.2	T	NM_181720	-		161018648	-1	no_errors	ENST00000368013	ensembl	human	known	74_37	silent	SNP	0.010	C	C	161018648	T	C	161018648	2	2	123	1	0	0	0	0	0	0	0	1	879	1606	56	5		5	ARHGAP30	1	161018648	Silent	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	693118	161018648	88231973	5	9090											
NIT1	4817	genome.wustl.edu	37	chr1	161089680	161089680	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagggcaggggcctatgtgtGaaagcaactctaccatgcct	12	11	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:161089680G>A	ENST00000368009.2	+	5	605	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	NIT1_ENST00000368008.1_Missense_Mutation_p.E177K|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000392190.5_Missense_Mutation_p.E141K|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.E162K|PFDN2_ENST00000468311.1_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	177	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTATGTGTGAAAGCAACTC	0.522											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000158793						84	81	82					1																	161089680		2203	4300	6503	NIT1	SO:0001583	missense	0			-	HGNC	AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.529G>A	1.37:g.161089680G>A	ENSP00000356988:p.Glu177Lys	Somatic	0	141	0	1814	0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	127	14.19	B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP							pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.E177K	ENST00000368009.2	37	c.529	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677448	0.88445	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000368008;ENST00000392190	D;D;D;D	0.92348	-3.02;-3.02;-2.7;-3.02	4.85	4.85	0.62838	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.97131	3.945	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79108	0.987;0.979;0.992	D	0.98278	1.0507	10	0.87932	D	0	-13.0921	15.5014	0.75700	0.0:0.0:1.0:0.0	.	162;177;177	Q86X76-4;B1AQP4;Q86X76	.;.;NIT1_HUMAN	K	177;162;177;141	ENSP00000356988:E177K;ENSP00000356986:E162K;ENSP00000356987:E177K;ENSP00000376028:E141K	ENSP00000356986:E162K	E	+	1	0	NIT1	159356304	1.000000	0.71417	0.965000	0.40720	0.965000	0.64279	8.341000	0.90046	2.505000	0.84491	0.563000	0.77884	GAA	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase		0.522	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	protein_coding	OTTHUMT00000077060.1	G		-		161089680	1	no_errors	ENST00000368009	ensembl	human	known	74_37	missense	SNP	1.000	A	A	161089680	G	A	161089680	3	1	123	1	0	0	0	0	1	0	0	0	10435	1291	45	2	604	2	NIT1	1	161089680	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	71032	161089680	88160941	6	9091											
NIT1	4817	genome.wustl.edu	37	chr1	161089713	161089713	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatgcctgggcccagtcttGagtcacctgtcagcacacca	9	16	3	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:161089713G>A	ENST00000368009.2	+	5	638	c.562G>A	c.(562-564)Gag>Aag	p.E188K	NIT1_ENST00000368008.1_Missense_Mutation_p.E188K|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000392190.5_Missense_Mutation_p.E152K|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.E173K|PFDN2_ENST00000468311.1_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	188	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCCAGTCTTGAGTCACCTGT	0.522											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000158793						68	66	67					1																	161089713		2203	4300	6503	NIT1	SO:0001583	missense	0			-	HGNC	AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.562G>A	1.37:g.161089713G>A	ENSP00000356988:p.Glu188Lys	Somatic	0	130	0	1814	0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	124	8.82	B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP							pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.E188K	ENST00000368009.2	37	c.562	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167816	0.38315	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000368008;ENST00000392190	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	4.85	3.94	0.45596	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.369201	0.27227	N	0.020323	T	0.57475	0.2056	N	0.20483	0.58	0.21967	N	0.999443	B;B;P	0.34864	0.05;0.27;0.473	B;B;B	0.38755	0.026;0.281;0.281	T	0.56625	-0.7948	10	0.06625	T	0.88	-5.1189	7.2971	0.26399	0.1934:0.0:0.8066:0.0	.	173;188;188	Q86X76-4;B1AQP4;Q86X76	.;.;NIT1_HUMAN	K	188;173;188;152	ENSP00000356988:E188K;ENSP00000356986:E173K;ENSP00000356987:E188K;ENSP00000376028:E152K	ENSP00000356986:E173K	E	+	1	0	NIT1	159356337	0.947000	0.32204	0.934000	0.37439	0.985000	0.73830	3.048000	0.49862	1.256000	0.44068	0.563000	0.77884	GAG	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase		0.522	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	protein_coding	OTTHUMT00000077060.1	G		-		161089713	1	no_errors	ENST00000368009	ensembl	human	known	74_37	missense	SNP	0.253	A	A	161089713	G	A	161089713	3	1	123	1	0	0	0	0	1	0	0	0	10435	1291	45	2	637	2	NIT1	1	161089713	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	33	161089713	88160908	7	9092											
PAPPA2	60676	genome.wustl.edu	37	chr1	176679192	176679192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaaaaccagcattgtAgactgtggcatctacactcc	9	10	1	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr1:176679192A>G	ENST00000367662.3	+	11	4695	c.3531A>G	c.(3529-3531)gtA>gtG	p.V1177V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1177					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)			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						CCAGCATTGTAGACTGTGGCA	0.453																																																	0								ENSG00000116183						137	129	131					1																	176679192		1894	4135	6029	PAPPA2	SO:0001819	synonymous_variant	0			-	HGNC	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.3531A>G	1.37:g.176679192A>G		Somatic	0	100	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	141	11.88	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V1177	ENST00000367662.3	37	c.3531	CCDS41438.1	1																																																																																			-	NULL		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	A		-		176679192	1	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	SNP	0.002	G	G	176679192	A	G	176679192	2	3	123	1	0	0	0	0	0	0	0	1	11435	407	15	5		5	PAPPA2	1	176679192	Silent	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	15589479	176679192	72571429	8	9093											
SNTG2	54221	genome.wustl.edu	37	chr2	1204841	1204841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccgaggtatgagaagcGctggctggacaccttgtccg	15	11	0	1	rs202078642		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr2:1204841G>A	ENST00000308624.5	+	9	773	c.644G>A	c.(643-645)cGc>cAc	p.R215H	SNTG2_ENST00000407292.1_Missense_Mutation_p.R88H|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	215					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TATGAGAAGCGCTGGCTGGAC	0.547																																																	0								ENSG00000172554	G	HIS/ARG	1,4067		0,1,2033	106	115	112		644	1.1	1	2		112	6,8372		0,6,4183	yes	missense	SNTG2	NM_018968.3	29	0,7,6216	AA,AG,GG		0.0716,0.0246,0.0562	benign	215/540	1204841	7,12439	2034	4189	6223	SNTG2	SO:0001583	missense	0			-	HGNC	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.644G>A	2.37:g.1204841G>A	ENSP00000311837:p.Arg215His	Somatic	0	44	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	Q05AH5	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R215H	ENST00000308624.5	37	c.644	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494833	0.44352	2.46E-4	7.16E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.56776	0.44;0.44	4.03	1.13	0.20643	.	0.110925	0.64402	N	0.000006	T	0.39733	0.1089	L	0.42245	1.32	0.58432	D	0.999993	B;B	0.24651	0.108;0.066	B;B	0.17098	0.017;0.005	T	0.21280	-1.0250	10	0.49607	T	0.09	.	8.5974	0.33723	0.2654:0.0:0.7346:0.0	.	88;215	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	H	215;88	ENSP00000311837:R215H;ENSP00000385020:R88H	ENSP00000311837:R215H	R	+	2	0	SNTG2	1194841	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.845000	0.48254	0.282000	0.22254	-0.397000	0.06425	CGC	-	NULL		0.547	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	protein_coding	OTTHUMT00000322454.1	G	NM_018968	rs202078642		1204841	1	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1204841	G	A	1204841	3	1	123	1	0	0	0	0	1	0	0	0	14883	1087	38	1	678	1	SNTG2	2	1204841	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		1204841	241994532	9	9094											
TMEM163	81615	genome.wustl.edu	37	chr2	135470828	135470828	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccaggacacccacaaTgccttcttcctgtagttctg	8	13	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr2:135470828T>A	ENST00000281924.6	-	2	328	c.264A>T	c.(262-264)gcA>gcT	p.A88A		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	88						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACACCCACAATGCCTTCTTCC	0.517																																																	0								ENSG00000152128						231	189	203					2																	135470828		2203	4300	6503	TMEM163	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.264A>T	2.37:g.135470828T>A		Somatic	0	91	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.54	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Silent	SNP							NULL	p.A88	ENST00000281924.6	37	c.264	CCDS2172.1	2																																																																																			-	NULL		0.517	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	protein_coding	OTTHUMT00000254631.2	T	NM_030923	-		135470828	-1	no_errors	ENST00000281924	ensembl	human	known	74_37	silent	SNP	0.018	A	A	135470828	T	A	135470828	2	1	123	1	0	0	0	0	0	0	0	1	16085	1451	51	5		5	TMEM163	2	135470828	Silent	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	134265987	135470828	107728545	10	9095											
KYNU	8942	genome.wustl.edu	37	chr2	143790838	143790838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggggtctgtggattccGaatttcaaatcctcccattt	8	12	2	0	rs142934146		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr2:143790838G>A	ENST00000264170.4	+	12	1247	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	KYNU_ENST00000409512.1_Missense_Mutation_p.R330Q	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGTGGATTCCGAATTTCAAAT	0.378																																																	0								ENSG00000115919	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	310	302	305		989,989	6	1	2	dbSNP_134	305	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KYNU	NM_001199241.1,NM_003937.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	330/466,330/466	143790838	1,13005	2203	4300	6503	KYNU	SO:0001583	missense	0			-	HGNC	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.989G>A	2.37:g.143790838G>A	ENSP00000264170:p.Arg330Gln	Somatic	0	208	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	80	48.72		Missense_Mutation	SNP							pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase	p.R330Q	ENST00000264170.4	37	c.989	CCDS2183.1	2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123813	0.56613	0.0	1.16E-4	ENSG00000115919	ENST00000264170;ENST00000409512	D;D	0.87256	-2.23;-2.23	6.03	6.03	0.97812	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	N	0.17922	0.545	0.80722	D	1	P	0.49862	0.929	P	0.51999	0.687	T	0.78450	-0.2199	10	0.02654	T	1	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	330	Q16719	KYNU_HUMAN	Q	330	ENSP00000264170:R330Q;ENSP00000386731:R330Q	ENSP00000264170:R330Q	R	+	2	0	KYNU	143507308	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.104000	0.89551	2.861000	0.98227	0.655000	0.94253	CGA	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase		0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	protein_coding	OTTHUMT00000254772.1	G	NM_001032998	rs142934146		143790838	1	no_errors	ENST00000264170	ensembl	human	known	74_37	missense	SNP	1.000	A	A	143790838	G	A	143790838	3	1	123	1	0	0	0	0	1	0	0	0	8589	1058	37	1	1057	1	KYNU	2	143790838	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	8320010	143790838	99408535	11	9096											
COBLL1	22837	genome.wustl.edu	37	chr2	165551295	165551296	+	Frame_Shift_Ins	INS	-	-	A													atactctcttctgcatctgcINSaaaaaaaaagagctgggttt					rs374805044		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr2:165551295_165551296insA	ENST00000392717.2	-	13	2838_2839	c.2834_2835insT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000375458.2_Frame_Shift_Ins_p.L869fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.L907fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTGCATCTGCAAAAAAAAAGA	0.421																																																	0								ENSG00000082438																																			COBLL1	SO:0001589	frameshift_variant	0				HGNC	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2835dupT	2.37:g.165551304_165551304dupA	ENSP00000376478:p.Leu945fs	Somatic	0	95	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Ins	INS							pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.L974fs	ENST00000392717.2	37	c.2922_2921		2																																																																																			-	NULL		0.421	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	protein_coding		-	NM_014900			165551296	-1	no_errors	ENST00000194871	ensembl	human	known	74_37	frame_shift_ins	INS	0.958:0.972	A	A	165551296	-	A	165551295	7	5	123	1	0	1	1	0	0	0	0	0	3656	709	25	0	791	0	COBLL1	2	165551295	Frame_Shift_Ins	INS	-	TCGA-DX-AB2V-01A-11D-A417-09	21760457	165551295	77648078	12	9097											
SCN9A	6335	genome.wustl.edu	37	chr2	167133735	167133735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgaccacagcaaaaatgaAgacgatgatggccaacacta	9	11	0	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr2:167133735A>G	ENST00000409435.1	-	15	2631	c.2632T>C	c.(2632-2634)Ttc>Ctc	p.F878L	SCN9A_ENST00000409672.1_Missense_Mutation_p.F867L|SCN9A_ENST00000375387.4_Missense_Mutation_p.F879L|SCN9A_ENST00000303354.6_Missense_Mutation_p.F879L|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	878					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAAAAATGAAGACGATGATG	0.463																																																	0								ENSG00000169432						180	170	173					2																	167133735		2203	4300	6503	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2632T>C	2.37:g.167133735A>G	ENSP00000386330:p.Phe878Leu	Somatic	0	184	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	127	23.03	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.F879L	ENST00000409435.1	37	c.2635	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	33	5.196530	0.94960	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	D	0.98579	0.9525	M	0.81112	2.525	0.58432	D	0.999999	D	0.67145	0.996	P	0.57009	0.811	D	0.99521	1.0958	10	0.87932	D	0	.	16.175	0.81844	1.0:0.0:0.0:0.0	.	867	E7EUN6	.	L	867;879;879;878	ENSP00000386306:F867L;ENSP00000364536:F879L;ENSP00000304748:F879L;ENSP00000386330:F878L	ENSP00000304748:F879L	F	-	1	0	SCN9A	166841981	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.142000	0.94618	2.274000	0.75844	0.528000	0.53228	TTC	-	pfam_Ion_trans_dom		0.463	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	A	NM_002977	-		167133735	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	1.000	G	G	167133735	A	G	167133735	3	3	123	1	0	0	0	0	1	0	0	0	13933	72	3	5	3382	5	SCN9A	2	167133735	Missense_Mutation	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	1582440	167133735	76065638	13	9098											
EOMES	8320	genome.wustl.edu	37	chr3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC													ggcggcggcggcggcggcggINSctgcagcggcggagggcagc					rs368178421|rs1874198|rs3062761	byFrequency	TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA|EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767														2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0								ENSG00000163508			101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				EOMES	SO:0001652	inframe_insertion	0				HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla	Somatic					0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																			-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	-	NM_005442			27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	INS	0.116:0.075	CGGCGC	CGGCGC	27763428	-	CGGCGC	27763427	7	5	123	1	0	1	1	0	0	0	0	0	5149	1203	42	0	1725	0	EOMES	3	27763427	In_Frame_Ins	INS	-	TCGA-DX-AB2V-01A-11D-A417-09		27763427	170259003	14	9099											
CHMP2B	25978	genome.wustl.edu	37	chr3	87294950	87294950	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtgcatctacggaaacaGaagacgagaacttttgctgt	10	8	1	3	rs139126268		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr3:87294950G>A	ENST00000263780.4	+	3	451	c.213G>A	c.(211-213)caG>caA	p.Q71Q	CHMP2B_ENST00000471660.1_Silent_p.Q30Q|CHMP2B_ENST00000494980.1_Silent_p.Q71Q|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	71					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TACGGAAACAGAAGACGAGAA	0.358																																																	0								ENSG00000083937						84	89	87					3																	87294950		2203	4300	6503	CHMP2B	SO:0001819	synonymous_variant	0			-	HGNC	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"Charged multivesicular body proteins"	24537	protein-coding gene	gene with protein product	"VPS2 homolog B (S. cerevisiae)"	609512	"chromatin modifying protein 2B"			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.213G>A	3.37:g.87294950G>A		Somatic	0	198	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	302	19.25	B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP							pfam_Snf7	p.Q71	ENST00000263780.4	37	c.213	CCDS2918.1	3																																																																																			-	pfam_Snf7		0.358	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP2B	protein_coding	OTTHUMT00000352779.2	G	NM_014043	-		87294950	1	no_errors	ENST00000263780	ensembl	human	known	74_37	silent	SNP	1.000	A	A	87294950	G	A	87294950	2	1	123	1	0	0	0	0	0	0	0	1	3357	933	33	2		2	CHMP2B	3	87294950	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	59531523	87294950	110727480	15	9100											
ZPLD1	131368	genome.wustl.edu	37	chr3	102187922	102187922	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcagaaaatgtccactgtCttcttgcactgcgttaccaa	6	11	3	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr3:102187922C>T	ENST00000491959.1	+	15	1758	c.876C>T	c.(874-876)gtC>gtT	p.V292V	ZPLD1_ENST00000466937.1_Silent_p.V292V|ZPLD1_ENST00000306176.1_Silent_p.V308V			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	292	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGTCCACTGTCTTCTTGCACT	0.453																																																	0								ENSG00000170044						138	133	135					3																	102187922		2203	4300	6503	ZPLD1	SO:0001819	synonymous_variant	0			-	HGNC	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.876C>T	3.37:g.102187922C>T		Somatic	0	131	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	123	17.45	Q49AS1|Q8WU36	Silent	SNP							pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	p.V308	ENST00000491959.1	37	c.924		3																																																																																			-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.453	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	protein_coding	OTTHUMT00000353984.1	C	NM_175056	-		102187922	1	no_errors	ENST00000306176	ensembl	human	known	74_37	silent	SNP	1.000	T	T	102187922	C	T	102187922	2	4	123	1	0	0	0	0	0	0	0	1	18228	900	32	2		2	ZPLD1	3	102187922	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	14892972	102187922	95834508	16	9101											
MASP1	5648	genome.wustl.edu	37	chr3	186974575	186974575	+	Frame_Shift_Del	DEL	G	G	-													tacaggcattcagagctcttGgggtaagggtttgggaagtc							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr3:186974575delG	ENST00000337774.5	-	5	1010	c.621delC	c.(619-621)cccfs	p.P207fs	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Frame_Shift_Del_p.P207fs|MASP1_ENST00000392472.2_Frame_Shift_Del_p.P94fs|MASP1_ENST00000169293.6_Frame_Shift_Del_p.P207fs|MASP1_ENST00000392470.2_Frame_Shift_Del_p.P181fs	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	207	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				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.P207P(3)		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)		CAGAGCTCTTGGGGTAAGGGT	0.493																																																	3	Substitution - coding silent(3)	lung(3)						ENSG00000127241						164	139	147					3																	186974575		2203	4300	6503	MASP1	SO:0001589	frameshift_variant	0				HGNC	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.621delC	3.37:g.186974575delG	ENSP00000336792:p.Pro207fs	Somatic	0	67	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	77	13.48	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Frame_Shift_Del	DEL							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.K208fs	ENST00000337774.5	37	c.621	CCDS33907.1	3																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.493	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	G	NM_001879			186974575	-1	no_errors	ENST00000296280	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	186974575	G	-	186974575	7	5	123	1	0	1	0	1	0	0	0	0	9324	1335	47	0	2471	0	MASP1	3	186974575	Frame_Shift_Del	DEL	G	TCGA-DX-AB2V-01A-11D-A417-09	84786653	186974575	11047855	17	9102											
TBC1D1	23216	genome.wustl.edu	37	chr4	37904119	37904119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgctatgtgttcaaagccGatgatcaaacaaaagtaagt	8	7	3	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr4:37904119G>A	ENST00000261439.4	+	2	758	c.403G>A	c.(403-405)Gat>Aat	p.D135N	TBC1D1_ENST00000402522.1_Missense_Mutation_p.D135N|TBC1D1_ENST00000508802.1_Missense_Mutation_p.D135N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	135					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GTTCAAAGCCGATGATCAAAC	0.408																																																	0								ENSG00000065882						49	52	51					4																	37904119		2203	4300	6503	TBC1D1	SO:0001583	missense	0			-	HGNC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.403G>A	4.37:g.37904119G>A	ENSP00000261439:p.Asp135Asn	Somatic	0	28	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	14.71	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.D135N	ENST00000261439.4	37	c.403	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161329	0.38119	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	T;T;T	0.14640	2.49;2.49;2.49	5.96	5.96	0.96718	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000110	T	0.12902	0.0313	L	0.29908	0.895	0.32750	N	0.506501	D;B	0.58970	0.984;0.02	B;B	0.42495	0.389;0.007	T	0.08659	-1.0711	10	0.14252	T	0.57	-28.3396	20.0044	0.97430	0.0:0.0:1.0:0.0	.	135;135	E9PGH8;Q86TI0	.;TBCD1_HUMAN	N	135	ENSP00000423651:D135N;ENSP00000261439:D135N;ENSP00000383994:D135N	ENSP00000261439:D135N	D	+	1	0	TBC1D1	37580514	0.419000	0.25449	0.677000	0.29947	0.822000	0.46500	1.879000	0.39618	2.830000	0.97506	0.585000	0.79938	GAT	-	smart_PTB/PI_dom		0.408	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	G	NM_015173	-		37904119	1	no_errors	ENST00000261439	ensembl	human	known	74_37	missense	SNP	0.972	A	A	37904119	G	A	37904119	3	1	123	1	0	0	0	0	1	0	0	0	15604	1058	37	1	405	1	TBC1D1	4	37904119	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		37904119	153250157	18	9103											
FAM13A	10144	genome.wustl.edu	37	chr4	89660243	89660243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccggtacctgtcgtataGtggcttcatcacctgccgtt	10	13	2	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr4:89660243G>A	ENST00000264344.5	-	20	2707	c.2500C>T	c.(2500-2502)Cta>Tta	p.L834L	FAM13A_ENST00000395002.2_Silent_p.L508L|FAM13A_ENST00000503556.1_Silent_p.L494L|FAM13A_ENST00000513837.1_Silent_p.L480L|FAM13A_ENST00000508369.1_Silent_p.L508L|FAM13A_ENST00000511976.1_Silent_p.L420L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	834					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGTCGTATAGTGGCTTCATC	0.498																																																	0								ENSG00000138640						170	136	147					4																	89660243		2203	4300	6503	FAM13A	SO:0001819	synonymous_variant	0			-	HGNC	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2500C>T	4.37:g.89660243G>A		Somatic	0	108	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	58	41.41	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L834	ENST00000264344.5	37	c.2500	CCDS34029.1	4																																																																																			-	NULL		0.498	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	protein_coding	OTTHUMT00000363371.1	G		-		89660243	-1	no_errors	ENST00000264344	ensembl	human	known	74_37	silent	SNP	0.092	A	A	89660243	G	A	89660243	2	1	123	1	0	0	0	0	0	0	0	1	5454	1020	36	2		2	FAM13A	4	89660243	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	51756124	89660243	101494033	19	9104											
CDH10	1008	genome.wustl.edu	37	chr5	24509886	24509886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacatgggtgttttctgcttCgactttcagagtataaagtc	9	7	2	1	rs138533676		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:24509886C>T	ENST00000264463.4	-	7	1552	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	349	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E349K(3)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTCTGCTTCGACTTTCAGA	0.378										HNSCC(23;0.051)																																							3	Substitution - Missense(3)	large_intestine(2)|central_nervous_system(1)						ENSG00000040731	C	LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	71	72	72		1045	5	1	5	dbSNP_134	72	0,8600		0,0,4300	no	missense	CDH10	NM_006727.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	349/789	24509886	2,13004	2203	4300	6503	CDH10	SO:0001583	missense	0			-	HGNC	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1045G>A	5.37:g.24509886C>T	ENSP00000264463:p.Glu349Lys	Somatic	0	114	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	170	11.92	Q9ULB3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E349K	ENST00000264463.4	37	c.1045	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973677	0.74246	4.54E-4	0.0	ENSG00000040731	ENST00000264463	T	0.01705	4.68	5.03	5.03	0.67393	Cadherin (5);Cadherin-like (1);	0.048877	0.85682	D	0.000000	T	0.07234	0.0183	L	0.56396	1.775	0.43164	D	0.994951	D	0.62365	0.991	P	0.59424	0.857	T	0.27297	-1.0078	10	0.42905	T	0.14	.	17.6996	0.88291	0.0:1.0:0.0:0.0	.	349	Q9Y6N8	CAD10_HUMAN	K	349	ENSP00000264463:E349K	ENSP00000264463:E349K	E	-	1	0	CDH10	24545643	0.990000	0.36364	0.997000	0.53966	0.879000	0.50718	2.869000	0.48444	2.502000	0.84385	0.561000	0.74099	GAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	protein_coding	OTTHUMT00000207345.2	C	NM_006727	rs138533676		24509886	-1	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	SNP	0.996	T	T	24509886	C	T	24509886	3	4	123	1	0	0	0	0	1	0	0	0	3098	893	31	1	1345	1	CDH10	5	24509886	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		24509886	156405374	20	9105											
UGT3A2	167127	genome.wustl.edu	37	chr5	36049323	36049323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcccaaattccaaagagcCgaatgaagtggaaagaatgg	11	7	0	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:36049323C>T	ENST00000282507.3	-	4	612	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G137S|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	171					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAAGAGCCGAATGAAGTG	0.453																																																	0								ENSG00000168671						88	82	84					5																	36049323		2203	4300	6503	UGT3A2	SO:0001583	missense	0			-	HGNC		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.511G>A	5.37:g.36049323C>T	ENSP00000282507:p.Gly171Ser	Somatic	0	173	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	178	25.52	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.G171S	ENST00000282507.3	37	c.511	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	C	9.757	1.169039	0.21621	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61040	0.14;0.14	3.03	1.19	0.21007	.	4.099320	0.01208	N	0.007777	T	0.48003	0.1476	L	0.31578	0.945	0.09310	N	1	B;B	0.15719	0.0;0.014	B;B	0.16722	0.001;0.016	T	0.34527	-0.9825	10	0.48119	T	0.1	.	7.0067	0.24840	0.0:0.675:0.0:0.325	.	137;171	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	171;137	ENSP00000282507:G171S;ENSP00000427404:G137S	ENSP00000282507:G171S	G	-	1	0	UGT3A2	36085080	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.231000	0.09069	0.300000	0.22699	-0.137000	0.14449	GGC	-	pfam_UDP_glucos_trans		0.453	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	protein_coding	OTTHUMT00000253771.2	C	NM_174914	-		36049323	-1	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	SNP	0.001	T	T	36049323	C	T	36049323	3	4	123	1	0	0	0	0	1	0	0	0	16971	652	23	1	1076	1	UGT3A2	5	36049323	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	11539437	36049323	144865937	21	9106											
GZMK	3003	genome.wustl.edu	37	chr5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtaaaggtgtcttccacGctatagtctctggaggtcat	10	9	4	0	rs200562138		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:54329635G>A	ENST00000231009.2	+	5	746	c.676G>A	c.(676-678)Gct>Act	p.A226T	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A226S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000113088	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	102	93	96		676	5.3	0.7	5		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMK	NM_002104.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	226/265	54329635	2,13004	2203	4300	6503	GZMK	SO:0001583	missense	0			-	HGNC	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.676G>A	5.37:g.54329635G>A	ENSP00000231009:p.Ala226Thr	Somatic	0	157	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	177	30.47	B2R563	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A226T	ENST00000231009.2	37	c.676	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.733630	0.96865	2.27E-4	1.16E-4	ENSG00000113088	ENST00000231009	D	0.88975	-2.45	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065450	0.64402	D	0.000018	D	0.90494	0.7022	L	0.49778	1.585	0.42889	D	0.994198	D	0.61080	0.989	P	0.53518	0.728	D	0.91543	0.5251	10	0.87932	D	0	.	16.4636	0.84071	0.0:0.0:1.0:0.0	.	226	P49863	GRAK_HUMAN	T	226	ENSP00000231009:A226T	ENSP00000231009:A226T	A	+	1	0	GZMK	54365392	0.998000	0.40836	0.687000	0.30102	0.559000	0.35586	7.069000	0.76755	2.738000	0.93877	0.655000	0.94253	GCT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.453	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	protein_coding	OTTHUMT00000214098.1	G	NM_002104	rs200562138		54329635	1	no_errors	ENST00000231009	ensembl	human	known	74_37	missense	SNP	0.988	A	A	54329635	G	A	54329635	3	1	123	1	0	0	0	0	1	0	0	0	6920	1087	38	1	694	1	GZMK	5	54329635	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	18280312	54329635	126585625	22	9107											
ACTBL2	345651	genome.wustl.edu	37	chr5	56777651	56777651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagataacacggtgttggcaTagagatccttgcgaatatcc	10	9	0	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:56777651T>G	ENST00000423391.1	-	1	985	c.884A>C	c.(883-885)tAt>tCt	p.Y295S	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	295						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)		GGTGTTGGCATAGAGATCCTT	0.483																																																	0								ENSG00000169067						123	109	114					5																	56777651		2203	4300	6503	ACTBL2	SO:0001583	missense	0			-	HGNC		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.884A>C	5.37:g.56777651T>G	ENSP00000416706:p.Tyr295Ser	Somatic	0	51	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	71	18.39	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.Y295S	ENST00000423391.1	37	c.884	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231104	0.39399	.	.	ENSG00000169067	ENST00000423391	D	0.94862	-3.54	4.91	3.72	0.42706	.	0.095677	0.43110	D	0.000610	D	0.97917	0.9315	H	0.97440	4.005	0.41599	D	0.988842	D	0.61080	0.989	D	0.72625	0.978	D	0.97504	1.0062	10	0.87932	D	0	.	9.395	0.38397	0.159:0.0:0.0:0.841	.	295	Q562R1	ACTBL_HUMAN	S	295	ENSP00000416706:Y295S	ENSP00000416706:Y295S	Y	-	2	0	ACTBL2	56813408	1.000000	0.71417	0.945000	0.38365	0.987000	0.75469	4.985000	0.63845	0.857000	0.35407	0.533000	0.62120	TAT	-	pfam_Actin-related,smart_Actin-related		0.483	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	T	NM_001017992	-		56777651	-1	no_errors	ENST00000423391	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56777651	T	G	56777651	3	3	123	1	0	0	0	0	1	0	0	0	194	1406	49	5	250	5	ACTBL2	5	56777651	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	2448016	56777651	124137609	23	9108											
PCDHA8	56140	genome.wustl.edu	37	chr5	140223088	140223088	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtgctcagcactgcccActgagggcgggtgccgggcg	18	13	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:140223088A>C	ENST00000531613.1	+	1	2182	c.2182A>C	c.(2182-2184)Act>Cct	p.T728P	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.T728P	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	728					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)			AGCACTGCCCACTGAGGGCGG	0.647																																																	0								ENSG00000204962						53	52	52					5																	140223088		2196	4267	6463	PCDHA8	SO:0001583	missense	0			-	HGNC	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.2182A>C	5.37:g.140223088A>C	ENSP00000434655:p.Thr728Pro	Somatic	0	94	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	99	18.18	B9EGT7|O75281	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T728P	ENST00000531613.1	37	c.2182	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	A	2.081	-0.410748	0.04799	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.13538	2.58;2.58	2.5	-3.1	0.05315	.	2.220660	0.03166	U	0.169962	T	0.21718	0.0523	M	0.66939	2.045	0.09310	N	1	P;P	0.39022	0.524;0.655	B;P	0.46629	0.163;0.522	T	0.32981	-0.9886	10	0.48119	T	0.1	.	5.2758	0.15649	0.4398:0.1614:0.3988:0.0	.	728;728	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	P	728	ENSP00000434655:T728P;ENSP00000367363:T728P	ENSP00000367363:T728P	T	+	1	0	PCDHA8	140203272	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.412000	0.02476	-0.748000	0.04753	-1.983000	0.00453	ACT	-	NULL		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	A	NM_018911	-		140223088	1	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	SNP	0.000	C	C	140223088	A	C	140223088	3	2	123	1	0	0	0	0	1	0	0	0	11532	159	6	5	2184	5	PCDHA8	5	140223088	Missense_Mutation	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	83445437	140223088	40692172	24	9109											
GRIA1	2890	genome.wustl.edu	37	chr5	153078482	153078482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttgagggcaatgaccGttacgagggctactgtgtag	14	7	1	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:153078482G>A	ENST00000285900.5	+	10	1644	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	GRIA1_ENST00000340592.5_Missense_Mutation_p.R434H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R444H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R365H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R354H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R444H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	434					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R434H(3)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGCAATGACCGTTACGAGGGC	0.507																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)						ENSG00000155511						134	117	123					5																	153078482		2203	4300	6503	GRIA1	SO:0001583	missense	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1301G>A	5.37:g.153078482G>A	ENSP00000285900:p.Arg434His	Somatic	0	124	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	166	15.31	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R444H	ENST00000285900.5	37	c.1331	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340721	0.81911	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.78481	1.64;1.64;-1.18;1.64;1.64;1.64;-1.18	5.44	5.44	0.79542	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.100313	0.64402	D	0.000011	D	0.86481	0.5943	M	0.72118	2.19	0.54753	D	0.999982	D;D;D;D;P;B	0.61697	0.965;0.965;0.99;0.965;0.897;0.065	P;P;P;P;P;B	0.61800	0.787;0.787;0.894;0.787;0.565;0.052	D	0.87526	0.2449	10	0.66056	D	0.02	.	18.2393	0.89961	0.0:0.0:1.0:0.0	.	444;444;354;444;434;434	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	434;434;354;388;434;365;365;444;444	ENSP00000285900:R434H;ENSP00000427920:R354H;ENSP00000339343:R434H;ENSP00000427864:R365H;ENSP00000442108:R365H;ENSP00000428994:R444H;ENSP00000415569:R444H	ENSP00000285900:R434H	R	+	2	0	GRIA1	153058675	0.986000	0.35501	1.000000	0.80357	0.975000	0.68041	4.198000	0.58419	2.548000	0.85928	0.655000	0.94253	CGT	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	G		-		153078482	1	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153078482	G	A	153078482	3	1	123	1	0	0	0	0	1	0	0	0	6769	1145	40	1	1339	1	GRIA1	5	153078482	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	12855394	153078482	27836778	25	9110											
C1QTNF2	114898	genome.wustl.edu	37	chr5	159776711	159776711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacccccttggggccacGggggccagcccgcccaatgg	15	16	0	1	rs554501129		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr5:159776711G>A	ENST00000393975.3	-	3	460	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	108	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGGGCCACGGGGGCCAGCC	0.687													G|||	1	0.000199681	0	0	5008	,	,		17246	0.001		0	False		,,,				2504	0																0								ENSG00000145861						33	39	37					5																	159776711		2200	4296	6496	C1QTNF2	SO:0001583	missense	0			-	HGNC	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.457C>T	5.37:g.159776711G>A	ENSP00000377545:p.Arg153Cys	Somatic	0	72	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	115	14.18		Missense_Mutation	SNP							pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R153C	ENST00000393975.3	37	c.457	CCDS4351.2	5	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767241	0.49574	.	.	ENSG00000145861	ENST00000393975	D	0.94330	-3.4	5.67	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96482	0.9357	10	0.56958	D	0.05	.	15.2343	0.73416	0.0:0.0:0.7799:0.2201	.	108	Q9BXJ5	C1QT2_HUMAN	C	153	ENSP00000377545:R153C	ENSP00000377545:R153C	R	-	1	0	C1QTNF2	159709289	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	3.388000	0.52509	2.687000	0.91594	0.543000	0.68304	CGT	-	pfam_Collagen		0.687	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	protein_coding	OTTHUMT00000252672.2	G		-		159776711	-1	no_errors	ENST00000393975	ensembl	human	known	74_37	missense	SNP	0.973	A	A	159776711	G	A	159776711	3	1	123	1	0	0	0	0	1	0	0	0	1965	1116	39	1	539	1	C1QTNF2	5	159776711	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	6698229	159776711	21138549	26	9111											
CDSN	170679	genome.wustl.edu	37	chr6	31084477	31084477	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcctggaaccagataActgtcagaggagccacccac	10	13	2	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:31084477A>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.S305R	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GAACCAGATAACTGTCAGAGG	0.542																																																	0								ENSG00000204539						35	34	34					6																	31084477		1962	3952	5914	CDSN	SO:0001627	intron_variant	0			-	HGNC	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1809A>T	6.37:g.31084477A>T		Somatic	0	44	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP							NULL	p.S305R	ENST00000259881.9	37	c.915	CCDS34390.1	6	.	.	.	.	.	.	.	.	.	.	A	16.67	3.188729	0.57909	.	.	ENSG00000204539	ENST00000376288	T	0.08896	3.04	4.76	-3.64	0.04515	.	0.318664	0.27155	N	0.020668	T	0.03095	0.0091	L	0.34521	1.04	0.21386	N	0.999702	P	0.48016	0.904	P	0.47573	0.55	T	0.31336	-0.9947	10	0.66056	D	0.02	-5.9144	10.7298	0.46089	0.421:0.0:0.579:0.0	.	305	Q15517	CDSN_HUMAN	R	305	ENSP00000365465:S305R	ENSP00000365465:S305R	S	-	3	2	CDSN	31192456	0.017000	0.18338	0.321000	0.25320	0.890000	0.51754	-0.199000	0.09491	-0.723000	0.04915	-0.463000	0.05309	AGT	-	NULL		0.542	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	protein_coding	OTTHUMT00000076110.3	A	NM_014068	-		31084477	-1	no_errors	ENST00000376288	ensembl	human	known	74_37	missense	SNP	0.412	T	T	31084477	A	T	31084477	1	4	123	0	1	0	0	0	0	0	0	0	3181	40	2	5		5	CDSN	6	31084477	Intron	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09		31084477	140030590	27	9112											
CAPN11	11131	genome.wustl.edu	37	chr6	44137260	44137260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaacatctcctggcagCggcccaaggtgggcactgga	14	12	1	1	rs545825579	byFrequency	TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:44137260C>T	ENST00000398776.1	+	3	369	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	CAPN11_ENST00000542245.1_Missense_Mutation_p.R111W	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	111	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCTGGCAGCGGCCCAAGGT	0.547													C|||	2	0.000399361	0	0	5008	,	,		18612	0		0	False		,,,				2504	0.002																0								ENSG00000137225						15	17	17					6																	44137260		1891	4125	6016	CAPN11	SO:0001583	missense	0			-	HGNC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.331C>T	6.37:g.44137260C>T	ENSP00000381758:p.Arg111Trp	Somatic	0	50	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	17	69.09	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R111W	ENST00000398776.1	37	c.331	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555756	0.65425	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;D	0.99239	-5.61;-5.61;-5.61	4.31	2.5	0.30297	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.43919	D	0.000514	D	0.99718	0.9891	H	0.99931	4.975	0.42463	D	0.992798	D	0.89917	1.0	D	0.97110	1.0	D	0.97450	1.0027	10	0.87932	D	0	.	12.0844	0.53690	0.4483:0.5517:0.0:0.0	.	111	Q9UMQ6	CAN11_HUMAN	W	111;111;141	ENSP00000381758:R111W;ENSP00000441078:R111W;ENSP00000432420:R141W	ENSP00000381758:R111W	R	+	1	2	CAPN11	44245238	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	1.162000	0.31786	0.740000	0.32651	0.650000	0.86243	CGG	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.547	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	protein_coding	OTTHUMT00000040714.3	C		-		44137260	1	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44137260	C	T	44137260	3	4	123	1	0	0	0	0	1	0	0	0	2626	759	27	1	341	1	CAPN11	6	44137260	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	13052783	44137260	126977807	28	9113											
COL12A1	1303	genome.wustl.edu	37	chr6	75893827	75893827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taacatattttgaagagactTccatggcaatcaaatttgaa	6	6	1	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:75893827T>A	ENST00000322507.8	-	9	1340	c.1031A>T	c.(1030-1032)gAa>gTa	p.E344V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.E344V|COL12A1_ENST00000483888.2_Missense_Mutation_p.E344V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	344	Fibronectin type-III 2. {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						TGAAGAGACTTCCATGGCAAT	0.398																																																	0								ENSG00000111799						51	48	49					6																	75893827		1878	4106	5984	COL12A1	SO:0001583	missense	0			-	HGNC	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.1031A>T	6.37:g.75893827T>A	ENSP00000325146:p.Glu344Val	Somatic	0	76	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	70	23.91	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E344V	ENST00000322507.8	37	c.1031	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478251	0.63849	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.58797	0.31;0.31;0.31	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.251709	0.33144	N	0.005237	T	0.59445	0.2194	M	0.63428	1.95	0.49798	D	0.999821	P;P	0.47106	0.89;0.89	P;P	0.51945	0.685;0.685	T	0.65376	-0.6183	10	0.72032	D	0.01	.	15.9513	0.79840	0.0:0.0:0.0:1.0	.	344;344	D6RGG3;Q99715	.;COCA1_HUMAN	V	344	ENSP00000325146:E344V;ENSP00000412864:E344V;ENSP00000421216:E344V	ENSP00000325146:E344V	E	-	2	0	COL12A1	75950547	1.000000	0.71417	0.996000	0.52242	0.331000	0.28603	7.698000	0.84413	2.163000	0.67991	0.533000	0.62120	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	T	NM_004370	-		75893827	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75893827	T	A	75893827	3	1	123	1	0	0	0	0	1	0	0	0	3671	1783	62	5	8392	5	COL12A1	6	75893827	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	31756567	75893827	95221240	29	9114											
FILIP1	27145	genome.wustl.edu	37	chr6	76024508	76024508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagatttttgttggtcTcttctagctcctcgattctt	7	10	4	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:76024508T>C	ENST00000237172.7	-	5	1370	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.E347G|FILIP1_ENST00000370020.1_Missense_Mutation_p.E248G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	347										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						TTTGTTGGTCTCTTCTAGCTC	0.423																																																	0								ENSG00000118407						142	142	142					6																	76024508		2203	4300	6503	FILIP1	SO:0001583	missense	0			-	HGNC	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.1040A>G	6.37:g.76024508T>C	ENSP00000237172:p.Glu347Gly	Somatic	0	38	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP							pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.E347G	ENST00000237172.7	37	c.1040	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661253	0.67700	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.24908	1.83;1.83;1.84	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;0.976;0.986	D;D;D	0.83275	0.996;0.953;0.971	T	0.41395	-0.9511	10	0.52906	T	0.07	-25.8379	16.1778	0.81874	0.0:0.0:0.0:1.0	.	347;347;347	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	G	347;347;248	ENSP00000376728:E347G;ENSP00000237172:E347G;ENSP00000359037:E248G	ENSP00000237172:E347G	E	-	2	0	FILIP1	76081228	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	GAG	-	prints_Tropomyosin		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	protein_coding	OTTHUMT00000041263.1	T	XM_029179	-		76024508	-1	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76024508	T	C	76024508	3	2	123	1	0	0	0	0	1	0	0	0	5896	1551	54	5	2609	5	FILIP1	6	76024508	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	130681	76024508	95090559	30	9115											
C6orf170	221322	genome.wustl.edu	37	chr6	121544380	121544385	+	Splice_Site	DEL	ACAATA	ACAATA	-													agatttaaagaaaatgacttAcaataacacatgttgggact							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	ACAATA	ACAATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:121544380_121544385delACAATA	ENST00000398212.2	-	21	2527_2531	c.2478_2482delTATTGT	c.(2476-2484)gttattgta>gtta	p.826_828VIV>V	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Splice_Site_p.826_828VIV>V	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	826					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)										AAAATGACTTACAATAACACATGTTG	0.301																																																	0								ENSG00000146350																																			TBC1D32	SO:0001630	splice_region_variant	0				HGNC	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.2481+1TATTGT>-	6.37:g.121544380_121544385delACAATA		Somatic					0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	DEL							-	e4-1	ENST00000398212.2	37	c.327+5_0	CCDS43501.1	6																																																																																			-	-		0.301	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	protein_coding	OTTHUMT00000380937.2	ACAATA	NM_152730		In_Frame_Del	121544385	-1	no_errors	ENST00000464622	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.999:0.878:0.870:0.829:0.780	-	-	121544385	ACAATA	-	121544380	8	5	123	1	0	1	0	1	0	0	1	0	2346	405	14	0	1338	0	C6orf170	6	121544380	Splice_Site	DEL	ACAATA	TCGA-DX-AB2V-01A-11D-A417-09	45519872	121544380	49570687	31	9116											
LAMA2	3908	genome.wustl.edu	37	chr6	129380936	129380936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaactcaatagagagacaCccgattacaaatgctattga	7	9	1	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:129380936C>T	ENST00000421865.2	+	3	340	c.291C>T	c.(289-291)caC>caT	p.H97H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	97	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			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)		TAGAGAGACACCCGATTACAA	0.328																																																	0								ENSG00000196569						97	90	92					6																	129380936		2203	4300	6503	LAMA2	SO:0001819	synonymous_variant	0			-	HGNC	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.291C>T	6.37:g.129380936C>T		Somatic	0	120	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	93	19.83	Q14736|Q5VUM2|Q93022	Silent	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.H97	ENST00000421865.2	37	c.291	CCDS5138.1	6																																																																																			-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.328	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	C		-		129380936	1	no_errors	ENST00000421865	ensembl	human	known	74_37	silent	SNP	1.000	T	T	129380936	C	T	129380936	2	4	123	1	0	0	0	0	0	0	0	1	8608	506	18	2		2	LAMA2	6	129380936	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	7836556	129380936	41734131	32	9117											
UTRN	7402	genome.wustl.edu	37	chr6	145157027	145157027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagtagagagggaagaAcgtggagaactggagaggat	17	3	1	4			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr6:145157027A>G	ENST00000367545.3	+	69	9777	c.9777A>G	c.(9775-9777)gaA>gaG	p.E3259E	UTRN_ENST00000367526.4_Silent_p.E814E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3259					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGAGGGAAGAACGTGGAGAAC	0.512																																																	0								ENSG00000152818						112	107	109					6																	145157027		2203	4300	6503	UTRN	SO:0001819	synonymous_variant	0			-	HGNC	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9777A>G	6.37:g.145157027A>G		Somatic	0	94	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	91	18.75	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.E3259	ENST00000367545.3	37	c.9777	CCDS34547.1	6																																																																																			-	pirsf_Dystrophin/utrophin		0.512	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	protein_coding	OTTHUMT00000042551.1	A		-		145157027	1	no_errors	ENST00000367545	ensembl	human	known	74_37	silent	SNP	0.992	G	G	145157027	A	G	145157027	2	3	123	1	0	0	0	0	0	0	0	1	17110	40	2	5		5	UTRN	6	145157027	Silent	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	15776091	145157027	25958040	33	9118											
C7orf31	136895	genome.wustl.edu	37	chr7	25191226	25191226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatacttacatcataatataCaccttgacctggccaagtca	5	11	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:25191226C>A	ENST00000409280.1	-	7	981	c.673G>T	c.(673-675)Gta>Tta	p.V225L	C7orf31_ENST00000283905.3_Missense_Mutation_p.V225L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	225										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TCATAATATACACCTTGACCT	0.318																																																	0								ENSG00000153790						82	81	81					7																	25191226		2203	4300	6503	C7orf31	SO:0001583	missense	0			-	HGNC	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.673G>T	7.37:g.25191226C>A	ENSP00000386604:p.Val225Leu	Somatic	0	214	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	280	10.83	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP							NULL	p.V225L	ENST00000409280.1	37	c.673	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763411	0.49574	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.09630	2.96;2.96	4.63	3.74	0.42951	.	0.441170	0.20097	N	0.099307	T	0.09598	0.0236	L	0.38838	1.175	0.09310	N	0.999999	P	0.45715	0.865	P	0.45310	0.476	T	0.12993	-1.0526	10	0.09084	T	0.74	-7.2335	10.0934	0.42460	0.0:0.9004:0.0:0.0996	.	225	Q8N865	CG031_HUMAN	L	225	ENSP00000386604:V225L;ENSP00000283905:V225L	ENSP00000283905:V225L	V	-	1	0	C7orf31	25157751	0.105000	0.21958	0.752000	0.31206	0.955000	0.61496	0.722000	0.25925	2.515000	0.84797	0.563000	0.77884	GTA	-	NULL		0.318	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	protein_coding	OTTHUMT00000326929.1	C	NM_138811	-		25191226	-1	no_errors	ENST00000283905	ensembl	human	known	74_37	missense	SNP	0.241	A	A	25191226	C	A	25191226	3	1	123	1	0	0	0	0	1	0	0	0	2389	478	17	3	1115	3	C7orf31	7	25191226	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		25191226	133947437	34	9119											
ABCA13	154664	genome.wustl.edu	37	chr7	48312581	48312581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttcggacaataaacaCatttcttccgtaaattattc	4	8	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:48312581C>T	ENST00000435803.1	+	17	3342	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1106					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAATAAACACATTTCTTCCG	0.318																																																	0								ENSG00000179869						51	50	50					7																	48312581		1818	4075	5893	ABCA13	SO:0001819	synonymous_variant	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3318C>T	7.37:g.48312581C>T		Somatic	0	101	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	119	13.77	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1106	ENST00000435803.1	37	c.3318	CCDS47584.1	7																																																																																			-	NULL		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	C	NM_152701	-		48312581	1	no_errors	ENST00000435803	ensembl	human	known	74_37	silent	SNP	0.000	T	T	48312581	C	T	48312581	2	4	123	1	0	0	0	0	0	0	0	1	31	477	17	2		2	ABCA13	7	48312581	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	23121355	48312581	110826082	35	9120											
ZNF716	441234	genome.wustl.edu	37	chr7	57529220	57529220	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcatactggggagaaactCtacacatgtgaagaatgtgg	12	6	2	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:57529220C>G	ENST00000420713.1	+	4	1165	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	351					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)|kidney(1)|lung(20)|ovary(2)	24						GGGAGAAACTCTACACATGTG	0.398																																																	0								ENSG00000182111						60	62	61					7																	57529220		692	1591	2283	ZNF716	SO:0001819	synonymous_variant	0			-	HGNC	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1053C>G	7.37:g.57529220C>G		Somatic	0	94	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	102	34.62		Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L351	ENST00000420713.1	37	c.1053	CCDS55112.1	7																																																																																			-	pfscan_Znf_C2H2		0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	protein_coding	OTTHUMT00000345309.1	C	NM_001159279	-		57529220	1	no_errors	ENST00000420713	ensembl	human	known	74_37	silent	SNP	0.772	G	G	57529220	C	G	57529220	2	3	123	1	0	0	0	0	0	0	0	1	18126	900	32	4		4	ZNF716	7	57529220	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	9216639	57529220	101609443	36	9121											
MEPCE	56257	genome.wustl.edu	37	chr7	100028535	100028535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttactccacggggagggCgcctcacagcagccgcggca	13	17	1	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:100028535C>T	ENST00000310512.2	+	1	1282	c.894C>T	c.(892-894)ggC>ggT	p.G298G	ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	298					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGGGGAGGGCGCCTCACAGC	0.672																																																	0								ENSG00000146834						67	65	66					7																	100028535		2203	4300	6503	MEPCE	SO:0001819	synonymous_variant	0			-	HGNC	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.894C>T	7.37:g.100028535C>T		Somatic	0	103	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	108	18.18	B3KP86|D6W5V7|Q9NPD4	Silent	SNP							pfam_Bin3	p.G298	ENST00000310512.2	37	c.894	CCDS5693.1	7																																																																																			-	NULL		0.672	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	protein_coding	OTTHUMT00000339135.1	C		-		100028535	1	no_errors	ENST00000310512	ensembl	human	known	74_37	silent	SNP	0.693	T	T	100028535	C	T	100028535	2	4	123	1	0	0	0	0	0	0	0	1	9479	755	27	1		1	MEPCE	7	100028535	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	42499315	100028535	59110128	37	9122											
MUC17	140453	genome.wustl.edu	37	chr7	100675057	100675057	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatccagaacaacttcagaAtctaccagtgacagcaccac	6	13	2	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:100675057A>T	ENST00000306151.4	+	3	424	c.360A>T	c.(358-360)gaA>gaT	p.E120D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	120	Ser-rich.				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)					CAACTTCAGAATCTACCAGTG	0.502																																																	0								ENSG00000169876						148	138	141					7																	100675057		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.360A>T	7.37:g.100675057A>T	ENSP00000302716:p.Glu120Asp	Somatic	0	80	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	101	19.84	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.E120D	ENST00000306151.4	37	c.360	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	5.203	0.222892	0.09863	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.678	0.678	0.17969	.	.	.	.	.	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	P	0.51933	0.949	B	0.34138	0.176	T	0.47959	-0.9076	8	0.12766	T	0.61	.	.	.	.	.	120	Q685J3	MUC17_HUMAN	D	120	ENSP00000302716:E120D	ENSP00000302716:E120D	E	+	3	2	MUC17	100461777	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.806000	0.00758	0.554000	0.29061	0.333000	0.21579	GAA	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	A	NM_001040105	-		100675057	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.015	T	T	100675057	A	T	100675057	3	4	123	1	0	0	0	0	1	0	0	0	9976	98	4	5	370	5	MUC17	7	100675057	Missense_Mutation	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	646522	100675057	58463606	38	9123											
NAPEPLD	222236	genome.wustl.edu	37	chr7	102760459	102760459	+	Frame_Shift_Del	DEL	G	G	-													ggagttcacttattgtgcacGgggaacgacgaaatcgcttt							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:102760459delG	ENST00000417955.1	-	3	660	c.506delC	c.(505-507)ccgfs	p.P169fs	NAPEPLD_ENST00000341533.4_Frame_Shift_Del_p.P169fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Del_p.P169fs|NAPEPLD_ENST00000465647.1_Frame_Shift_Del_p.P169fs|NAPEPLD_ENST00000455523.2_Frame_Shift_Del_p.P242fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	169					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.P169Q(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TATTGTGCACGGGGAACGACG	0.468																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000161048						211	185	194					7																	102760459		2203	4300	6503	NAPEPLD	SO:0001589	frameshift_variant	0				HGNC	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.506delC	7.37:g.102760459delG	ENSP00000407112:p.Pro169fs	Somatic	0	86	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	113	13.08	Q5CZ87|Q769K1	Frame_Shift_Del	DEL							NULL	p.P242fs	ENST00000417955.1	37	c.725	CCDS5729.1	7																																																																																			-	NULL		0.468	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	protein_coding	OTTHUMT00000347904.1	G	NM_198990			102760459	-1	no_errors	ENST00000455523	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	102760459	G	-	102760459	7	5	123	1	0	1	0	1	0	0	0	0	10165	1116	39	0	687	0	NAPEPLD	7	102760459	Frame_Shift_Del	DEL	G	TCGA-DX-AB2V-01A-11D-A417-09	2085402	102760459	56378204	39	9124											
DENND2A	27147	genome.wustl.edu	37	chr7	140301490	140301490	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggccttctgcatgaaccTttcctgtcctccacaagctc	7	16	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:140301490T>A	ENST00000275884.6	-	2	1125	c.708A>T	c.(706-708)aaA>aaT	p.K236N	DENND2A_ENST00000496613.1_Missense_Mutation_p.K236N|DENND2A_ENST00000492720.1_Missense_Mutation_p.K236N|DENND2A_ENST00000537639.1_Missense_Mutation_p.K236N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	236					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGCATGAACCTTTCCTGTCCT	0.622																																																	0								ENSG00000146966						101	102	101					7																	140301490		1891	4106	5997	DENND2A	SO:0001583	missense	0			-	HGNC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.708A>T	7.37:g.140301490T>A	ENSP00000275884:p.Lys236Asn	Somatic	0	56	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	62	15.07	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K236N	ENST00000275884.6	37	c.708	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	T	2.074	-0.412429	0.04799	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10668	3.57;3.57;3.57;2.85	3.97	0.192	0.15134	.	3.456300	0.00582	N	0.000329	T	0.12944	0.0314	L	0.47716	1.5	0.09310	N	1	P;P	0.39665	0.682;0.462	B;B	0.39531	0.302;0.258	T	0.30592	-0.9973	10	0.33141	T	0.24	-4.2042	7.9637	0.30087	0.0:0.2496:0.0:0.7504	.	236;236	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	N	236	ENSP00000275884:K236N;ENSP00000442245:K236N;ENSP00000419654:K236N;ENSP00000419464:K236N	ENSP00000275884:K236N	K	-	3	2	DENND2A	139947959	0.895000	0.30542	0.016000	0.15963	0.110000	0.19582	0.982000	0.29539	-0.121000	0.11787	0.379000	0.24179	AAA	-	NULL		0.622	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	protein_coding	OTTHUMT00000348742.1	T	NM_015689	-		140301490	-1	no_errors	ENST00000275884	ensembl	human	known	74_37	missense	SNP	0.036	A	A	140301490	T	A	140301490	3	1	123	1	0	0	0	0	1	0	0	0	4431	1606	56	5	2393	5	DENND2A	7	140301490	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	37541031	140301490	18837173	40	9125											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174480	150174480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccagctgggacgatTcactgaagaggacaaaacag	13	8	1	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr7:150174480T>A	ENST00000307271.3	+	5	2184	c.1610T>A	c.(1609-1611)tTc>tAc	p.F537Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	537	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGGACGATTCACTGAAGAG	0.498																																																	0								ENSG00000171115						78	75	76					7																	150174480		2203	4300	6503	GIMAP8	SO:0001583	missense	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1610T>A	7.37:g.150174480T>A	ENSP00000305107:p.Phe537Tyr	Somatic	0	93	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	170	11.92		Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.F537Y	ENST00000307271.3	37	c.1610	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277921	0.59758	.	.	ENSG00000171115	ENST00000307271	T	0.05649	3.41	4.44	3.21	0.36854	AIG1 (1);	0.157695	0.29892	N	0.010928	T	0.07052	0.0179	L	0.49126	1.545	0.26942	N	0.966226	P	0.43024	0.798	B	0.42030	0.373	T	0.18713	-1.0328	10	0.34782	T	0.22	.	7.2046	0.25899	0.197:0.0:0.0:0.8029	.	537	Q8ND71	GIMA8_HUMAN	Y	537	ENSP00000305107:F537Y	ENSP00000305107:F537Y	F	+	2	0	GIMAP8	149805413	0.663000	0.27448	0.671000	0.29857	0.051000	0.14879	0.068000	0.14531	1.881000	0.54492	0.533000	0.62120	TTC	-	pfam_AIG1,superfamily_P-loop_NTPase		0.498	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	T	NM_175571	-		150174480	1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	SNP	0.770	A	A	150174480	T	A	150174480	3	1	123	1	0	0	0	0	1	0	0	0	6387	1783	62	5	1624	5	GIMAP8	7	150174480	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	9872990	150174480	8964183	41	9126											
DOCK5	80005	genome.wustl.edu	37	chr8	25209283	25209283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcagcttataatggaaCggctgctgagaaggatcaac	10	8	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr8:25209283C>T	ENST00000276440.7	+	27	2835	c.2791C>T	c.(2791-2793)Cgg>Tgg	p.R931W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	931					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			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)		TATAATGGAACGGCTGCTGAG	0.512																																					Pancreas(145;34 1887 3271 10937 30165)												0								ENSG00000147459						126	93	104					8																	25209283		2203	4300	6503	DOCK5	SO:0001583	missense	0			-	HGNC		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.2791C>T	8.37:g.25209283C>T	ENSP00000276440:p.Arg931Trp	Somatic	0	116	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	90	10.78	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R931W	ENST00000276440.7	37	c.2791	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.514611|4.514611	0.85389|0.85389	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.04234|.	3.67|.	5.84|5.84	4.94|4.94	0.65067|0.65067	.|.	0.059863|.	0.64402|.	D|.	0.000002|.	T|T	0.71434|0.71434	0.3339|0.3339	M|M	0.63428|0.63428	1.95|1.95	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D|.	0.71674|.	0.998;0.996;0.998|.	P;P;P|.	0.61477|.	0.889;0.889;0.889|.	T|T	0.70579|0.70579	-0.4833|-0.4833	10|5	0.66056|.	D|.	0.02|.	.|.	15.8855|15.8855	0.79244|0.79244	0.1404:0.8596:0.0:0.0|0.1404:0.8596:0.0:0.0	.|.	921;706;931|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	W|M	931|702	ENSP00000276440:R931W|.	ENSP00000276440:R931W|.	R|T	+|+	1|2	2|0	DOCK5|DOCK5	25265200|25265200	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.928000|0.928000	0.56348|0.56348	2.622000|2.622000	0.46427|0.46427	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	CGG|ACG	-	superfamily_ARM-type_fold		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	protein_coding	OTTHUMT00000254955.2	C	NM_024940	-		25209283	1	no_errors	ENST00000276440	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25209283	C	T	25209283	3	4	123	1	0	0	0	0	1	0	0	0	4692	527	19	1	2897	1	DOCK5	8	25209283	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		25209283	121154739	42	9127											
EFR3A	23167	genome.wustl.edu	37	chr8	132957003	132957003	+	Silent	SNP	G	G	A													tgtttttaggatggccttgtGaaaactgatatggagaaatt							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr8:132957003G>A	ENST00000254624.5	+	3	324	c.99G>A	c.(97-99)gtG>gtA	p.V33V	EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Silent_p.V33V	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	33						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATGGCCTTGTGAAAACTGATA	0.348																																																	0								ENSG00000132294						71	69	70					8																	132957003		2202	4299	6501	EFR3A	SO:0001819	synonymous_variant	0			-	HGNC	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.99G>A	8.37:g.132957003G>A		Somatic	0	245	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	240	20.79	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP							superfamily_ARM-type_fold	p.V33	ENST00000254624.5	37	c.99	CCDS34942.2	8																																																																																			-	NULL		0.348	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	protein_coding	OTTHUMT00000318886.1	G	NM_015137	-		132957003	1	no_errors	ENST00000254624	ensembl	human	known	74_37	silent	SNP	0.999	A	A	132957003	G	A	132957003	2	1	123	1	0	0	0	0	0	0	0	1	4960	1277	45	2		2	EFR3A	8	132957003	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	107747720	132957003	13407019	43	9128	162	2	1	72		4	3	95	N	G	4.290713e-08
EFR3A	23167	genome.wustl.edu	37	chr8	132957010	132957010	+	Missense_Mutation	SNP	G	G	A													aggatggccttgtgaaaactGatatggagaaattgacattt					rs375503062		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr8:132957010G>A	ENST00000254624.5	+	3	331	c.106G>A	c.(106-108)Gat>Aat	p.D36N	EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Missense_Mutation_p.D36N	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	36						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGAAAACTGATATGGAGAA	0.348																																																	0								ENSG00000132294	G	ASN/ASP	2,4402	4.2+/-10.8	0,2,2200	77	73	74		106	5.8	1	8		74	1,8597	1.2+/-3.3	0,1,4298	no	missense	EFR3A	NM_015137.4	23	0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231	benign	36/822	132957010	3,12999	2202	4299	6501	EFR3A	SO:0001583	missense	0			-	HGNC	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.106G>A	8.37:g.132957010G>A	ENSP00000254624:p.Asp36Asn	Somatic	0	247	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	239	21.31	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.D36N	ENST00000254624.5	37	c.106	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628444	0.28978	4.54E-4	1.16E-4	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503	T;T	0.16597	2.33;2.33	5.75	5.75	0.90469	.	.	.	.	.	T	0.09512	0.0234	N	0.10760	0.04	0.44694	D	0.997685	B	0.10296	0.003	B	0.15870	0.014	T	0.11155	-1.0599	9	0.02654	T	1	-10.087	18.9404	0.92602	0.0:0.0:1.0:0.0	.	36	Q14156	EFR3A_HUMAN	N	36	ENSP00000254624:D36N;ENSP00000334769:D36N	ENSP00000254624:D36N	D	+	1	0	EFR3A	133026192	1.000000	0.71417	0.966000	0.40874	0.800000	0.45204	5.727000	0.68523	2.725000	0.93324	0.655000	0.94253	GAT	-	NULL		0.348	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	protein_coding	OTTHUMT00000318886.1	G	NM_015137	-		132957010	1	no_errors	ENST00000254624	ensembl	human	known	74_37	missense	SNP	0.986	A	A	132957010	G	A	132957010	3	1	123	1	0	0	0	0	1	0	0	0	4960	1290	45	2	116	2	EFR3A	8	132957010	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	7	132957010	13407012	44	9129	162	2	1	72		4	3	95	N	G	4.290713e-08
EFR3A	23167	genome.wustl.edu	37	chr8	132957051	132957051	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatgcagtatctgctccagaGaaactggatcgaattggttc	10	8	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr8:132957051G>A	ENST00000254624.5	+	3	372	c.147G>A	c.(145-147)gaG>gaA	p.E49E	EFR3A_ENST00000519656.1_Silent_p.E13E|EFR3A_ENST00000334503.4_Silent_p.E49E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	49						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTGCTCCAGAGAAACTGGATC	0.368																																																	0								ENSG00000132294						93	87	89					8																	132957051		2203	4299	6502	EFR3A	SO:0001819	synonymous_variant	0			-	HGNC	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.147G>A	8.37:g.132957051G>A		Somatic	0	216	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	221	21.07	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP							superfamily_ARM-type_fold	p.E49	ENST00000254624.5	37	c.147	CCDS34942.2	8																																																																																			-	NULL		0.368	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	protein_coding	OTTHUMT00000318886.1	G	NM_015137	-		132957051	1	no_errors	ENST00000254624	ensembl	human	known	74_37	silent	SNP	1.000	A	A	132957051	G	A	132957051	2	1	123	1	0	0	0	0	0	0	0	1	4960	933	33	2		2	EFR3A	8	132957051	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	41	132957051	13406971	45	9130			1	72		4	3	95	N	G	4.290713e-08
EFR3A	23167	genome.wustl.edu	37	chr8	132957097	132957097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcagaaaggttgagcaggGatgttgtcagacatcgttct	14	6	2	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr8:132957097G>A	ENST00000254624.5	+	3	418	c.193G>A	c.(193-195)Gat>Aat	p.D65N	EFR3A_ENST00000519656.1_Missense_Mutation_p.D29N|EFR3A_ENST00000334503.4_Missense_Mutation_p.D65N	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	65						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GTTGAGCAGGGATGTTGTCAG	0.363																																																	0								ENSG00000132294						102	93	96					8																	132957097		2203	4299	6502	EFR3A	SO:0001583	missense	0			-	HGNC	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.193G>A	8.37:g.132957097G>A	ENSP00000254624:p.Asp65Asn	Somatic	0	220	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	252	16.28	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.D65N	ENST00000254624.5	37	c.193	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	G	33	5.224772	0.95173	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.79011	2.435	0.80722	D	1	D	0.58268	0.982	P	0.60012	0.867	T	0.46317	-0.9200	10	0.87932	D	0	-17.939	18.9014	0.92444	0.0:0.0:1.0:0.0	.	65	Q14156	EFR3A_HUMAN	N	65;29;65;65;29	ENSP00000254624:D65N;ENSP00000430512:D29N;ENSP00000334769:D65N;ENSP00000428086:D29N	ENSP00000254624:D65N	D	+	1	0	EFR3A	133026279	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GAT	-	NULL		0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	protein_coding	OTTHUMT00000318886.1	G	NM_015137	-		132957097	1	no_errors	ENST00000254624	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132957097	G	A	132957097	3	1	123	1	0	0	0	0	1	0	0	0	4960	1174	41	2	203	2	EFR3A	8	132957097	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	46	132957097	13406925	46	9131			1	72		4	3	95	N	G	4.290713e-08
BAI1	575	genome.wustl.edu	37	chr8	143566042	143566042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacgccaaggagctgtTccggctggtggaggactttg	14	12	0	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr8:143566042T>A	ENST00000517894.1	+	13	3119	c.2225T>A	c.(2224-2226)tTc>tAc	p.F742Y	BAI1_ENST00000323289.5_Missense_Mutation_p.F742Y			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	742					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)			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)					AAGGAGCTGTTCCGGCTGGTG	0.657																																																	0								ENSG00000181790						28	37	34					8																	143566042		2052	4193	6245	BAI1	SO:0001583	missense	0			-	HGNC	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.2225T>A	8.37:g.143566042T>A	ENSP00000430945:p.Phe742Tyr	Somatic	0	171	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	168	15.15		Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.F742Y	ENST00000517894.1	37	c.2225		8	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674583	0.88445	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.09723	2.95;2.95	4.66	4.66	0.58398	.	0.070349	0.56097	U	0.000022	T	0.26557	0.0649	L	0.56769	1.78	0.52501	D	0.999956	D	0.69078	0.997	D	0.65140	0.932	T	0.01195	-1.1422	10	0.87932	D	0	.	12.9132	0.58190	0.0:0.0:0.0:1.0	.	742	E9PBK0	.	Y	742	ENSP00000430945:F742Y;ENSP00000313046:F742Y	ENSP00000313046:F742Y	F	+	2	0	BAI1	143563044	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.813000	0.69201	1.723000	0.51488	0.260000	0.18958	TTC	-	pfam_DUF3497		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	T	NM_001702	-		143566042	1	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	SNP	1.000	A	A	143566042	T	A	143566042	3	1	123	1	0	0	0	0	1	0	0	0	1298	1783	62	5	2271	5	BAI1	8	143566042	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	10608945	143566042	2797980	47	9132											
IFNE	338376	genome.wustl.edu	37	chr9	21481377	21481377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaatgaggaatttctccGtgtggttttcctcccaacca	9	10	1	2	rs147289613		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr9:21481377G>A	ENST00000448696.3	-	1	935	c.317C>T	c.(316-318)aCg>aTg	p.T106M	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	106					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						GAATTTCTCCGTGTGGTTTTC	0.453													A|||	1	0.000199681	0	0	5008	,	,		20727	0		0.001	False		,,,				2504	0																0								ENSG00000184995	A	MET/THR	1,4405	826.1+/-416.6	0,1,2202	150	144	146		317	-0.1	0	9	dbSNP_134	146	1,8599	819.0+/-406.8	0,1,4299	yes	missense	IFNE	NM_176891.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	106/209	21481377	2,13004	2203	4300	6503	IFNE	SO:0001583	missense	0			-	HGNC	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.317C>T	9.37:g.21481377G>A	ENSP00000418018:p.Thr106Met	Somatic	0	60	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31		Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.T106M	ENST00000448696.3	37	c.317	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	A	1.537	-0.542857	0.04053	2.27E-4	1.16E-4	ENSG00000184995	ENST00000448696	T	0.03272	3.99	4.93	-0.101	0.13618	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.543885	0.17478	N	0.172840	T	0.01695	0.0054	N	0.04297	-0.235	0.09310	N	1	B	0.22851	0.076	B	0.20767	0.031	T	0.43909	-0.9362	10	0.52906	T	0.07	.	4.5513	0.12114	0.5519:0.0:0.3097:0.1384	.	106	Q86WN2	IFNE_HUMAN	M	106	ENSP00000418018:T106M	ENSP00000418018:T106M	T	-	2	0	IFNE	21471377	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.384000	0.20668	-0.359000	0.08150	-0.254000	0.11334	ACG	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.453	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	protein_coding	OTTHUMT00000051901.2	G	NM_176891	rs147289613		21481377	-1	no_errors	ENST00000448696	ensembl	human	known	74_37	missense	SNP	0.000	A	A	21481377	G	A	21481377	3	1	123	1	0	0	0	0	1	0	0	0	7549	1145	40	1	313	1	IFNE	9	21481377	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		21481377	119732054	48	9133											
FGD3	89846	genome.wustl.edu	37	chr9	95796862	95796862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccagcctgctctgcGgccccctgcggctgtcagag	12	19	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr9:95796862G>A	ENST00000375482.3	+	17	2321	c.1825G>A	c.(1825-1827)Ggc>Agc	p.G609S	FGD3_ENST00000337352.6_Missense_Mutation_p.G609S|FGD3_ENST00000538555.1_Missense_Mutation_p.G212S|FGD3_ENST00000416701.2_Missense_Mutation_p.G608S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	609	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCTCTGCGGCCCCCTGCG	0.657																																																	0								ENSG00000127084						44	52	49					9																	95796862		1963	4139	6102	FGD3	SO:0001583	missense	0			-	HGNC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1825G>A	9.37:g.95796862G>A	ENSP00000364631:p.Gly609Ser	Somatic	0	141	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	128	17.83	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.G609S	ENST00000375482.3	37	c.1825	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.492134	0.01009	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.70986	-0.41;-0.4;-0.41;-0.53	4.46	2.61	0.31194	Pleckstrin homology domain (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.39020	N	0.001496	T	0.38612	0.1047	N	0.12611	0.24	0.20926	N	0.999822	P;B	0.35774	0.519;0.004	B;B	0.28385	0.089;0.005	T	0.43475	-0.9389	10	0.02654	T	1	.	6.1774	0.20451	0.2227:0.0:0.7773:0.0	.	608;609	F8W7P2;Q5JSP0	.;FGD3_HUMAN	S	609;608;609;212	ENSP00000364631:G609S;ENSP00000413833:G608S;ENSP00000336914:G609S;ENSP00000442560:G212S	ENSP00000336914:G609S	G	+	1	0	FGD3	94836683	0.754000	0.28360	0.047000	0.18901	0.110000	0.19582	1.086000	0.30853	1.245000	0.43885	0.561000	0.74099	GGC	-	superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.657	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	protein_coding	OTTHUMT00000055493.1	G	NM_033086	-		95796862	1	no_errors	ENST00000337352	ensembl	human	known	74_37	missense	SNP	0.176	A	A	95796862	G	A	95796862	3	1	123	1	0	0	0	0	1	0	0	0	5836	1116	39	1	1883	1	FGD3	9	95796862	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	74315485	95796862	45416569	49	9134											
OR13C3	138803	genome.wustl.edu	37	chr9	107298240	107298240	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtttcgcatacataaagaaGatggtaccgtaaaatatgat	9	5	0	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr9:107298240G>T	ENST00000374781.2	-	1	897	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ACATAAAGAAGATGGTACCGT	0.433																																					GBM(86;1248 1274 14222 15028 46219)												0								ENSG00000204246						142	134	137					9																	107298240		2203	4300	6503	OR13C3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.855C>A	9.37:g.107298240G>T		Somatic	0	88	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	83	15.31	Q5VVG1|Q6IF52	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I285	ENST00000374781.2	37	c.855	CCDS35089.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	protein_coding	OTTHUMT00000053477.2	G		-		107298240	-1	no_errors	ENST00000374781	ensembl	human	known	74_37	silent	SNP	0.929	T	T	107298240	G	T	107298240	2	4	123	1	0	0	0	0	0	0	0	1	10937	932	33	3		3	OR13C3	9	107298240	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	11501378	107298240	33915191	50	9135											
GRIN1	2902	genome.wustl.edu	37	chr9	140058109	140058109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgacccttacttttgAgaacatggccggtgcgttct	10	13	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr9:140058109A>G	ENST00000371561.3	+	17	3529	c.2432A>G	c.(2431-2433)gAg>gGg	p.E811G	GRIN1_ENST00000371546.4_Missense_Mutation_p.E832G|GRIN1_ENST00000371550.4_Missense_Mutation_p.E811G|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371555.4_Missense_Mutation_p.E832G|GRIN1_ENST00000315048.3_Missense_Mutation_p.E811G|GRIN1_ENST00000350902.5_Missense_Mutation_p.E811G|GRIN1_ENST00000371559.4_Missense_Mutation_p.E811G|GRIN1_ENST00000371560.3_Missense_Mutation_p.E832G|GRIN1_ENST00000371553.3_Missense_Mutation_p.E832G	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	811					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTACTTTTGAGAACATGGCC	0.602																																					NSCLC(113;717 1653 2089 20474 37618)												0								ENSG00000176884						85	72	77					9																	140058109		2202	4300	6502	GRIN1	SO:0001583	missense	0			-	HGNC		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2432A>G	9.37:g.140058109A>G	ENSP00000360616:p.Glu811Gly	Somatic	0	73	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	19	78.16	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E811G	ENST00000371561.3	37	c.2432	CCDS7031.1	9	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573783	0.65765	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	3.97	3.97	0.46021	Ionotropic glutamate receptor (1);	0.183710	0.47852	N	0.000208	T	0.49115	0.1538	L	0.33710	1.025	0.80722	D	1	B;B;B;B;B;B	0.31256	0.196;0.25;0.163;0.218;0.196;0.316	B;B;B;B;B;B	0.41894	0.212;0.351;0.135;0.135;0.212;0.369	T	0.55464	-0.8137	10	0.66056	D	0.02	.	12.1099	0.53834	1.0:0.0:0.0:0.0	.	832;832;811;811;811;811	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	G	811;811;811;811;832;832;832;811;832	ENSP00000360616:E811G;ENSP00000316696:E811G;ENSP00000316915:E811G;ENSP00000360605:E811G;ENSP00000360601:E832G;ENSP00000360610:E832G;ENSP00000360608:E832G;ENSP00000360614:E811G;ENSP00000360615:E832G	ENSP00000316696:E811G	E	+	2	0	GRIN1	139177930	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.095000	0.50235	1.804000	0.52760	0.379000	0.24179	GAG	-	pfam_Iontro_glu_rcpt		0.602	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	protein_coding	OTTHUMT00000055267.3	A	NM_007327	-		140058109	1	no_errors	ENST00000371561	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140058109	A	G	140058109	3	3	123	1	0	0	0	0	1	0	0	0	6780	304	11	5	2565	5	GRIN1	9	140058109	Missense_Mutation	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	32759869	140058109	1155322	51	9136											
UPF2	26019	genome.wustl.edu	37	chr10	11984753	11984753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaagtccaccgcctttaaTcattacctccttattaaaac	2	13	1	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:11984753T>C	ENST00000356352.2	-	17	3762	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V	UPF2_ENST00000397053.2_Missense_Mutation_p.I1097V|UPF2_ENST00000357604.5_Missense_Mutation_p.I1097V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1097	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCGCCTTTAATCATTACCTCC	0.333																																																	0								ENSG00000151461						98	102	101					10																	11984753		2203	4300	6503	UPF2	SO:0001583	missense	0			-	HGNC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3289A>G	10.37:g.11984753T>C	ENSP00000348708:p.Ile1097Val	Somatic	0	102	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	67	32.32	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.I1097V	ENST00000356352.2	37	c.3289	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700459	0.48307	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.39229	1.09;1.09;1.09	5.1	5.1	0.69264	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	N	0.21194	0.64	0.47698	D	0.999497	P	0.40032	0.699	P	0.55087	0.768	T	0.29336	-1.0015	10	0.22109	T	0.4	.	15.1623	0.72793	0.0:0.0:0.0:1.0	.	1097	Q9HAU5	RENT2_HUMAN	V	1097;1097;1097;2	ENSP00000348708:I1097V;ENSP00000350221:I1097V;ENSP00000380244:I1097V	ENSP00000348708:I1097V	I	-	1	0	UPF2	12024759	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.405000	0.80007	2.049000	0.60858	0.455000	0.32223	ATT	-	pfam_Up-fram_suppressor-2		0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	protein_coding	OTTHUMT00000046783.1	T		-		11984753	-1	no_errors	ENST00000356352	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11984753	T	C	11984753	3	2	123	1	0	0	0	0	1	0	0	0	17011	1435	50	5	549	5	UPF2	10	11984753	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09		11984753	123549994	52	9137											
ZNF25	219749	genome.wustl.edu	37	chr10	38241130	38241130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttctggataaaggtttcCccacactcctgacactcata	6	13	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:38241130C>T	ENST00000302609.7	-	6	1508	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	432					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)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TAAAGGTTTCCCCACACTCCT	0.428																																																	0								ENSG00000175395						156	146	149					10																	38241130		2203	4300	6503	ZNF25	SO:0001819	synonymous_variant	0			-	HGNC	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.1296G>A	10.37:g.38241130C>T		Somatic	0	38	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G432	ENST00000302609.7	37	c.1296	CCDS7195.1	10																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	protein_coding	OTTHUMT00000051214.1	C	NM_145011, NM_006966	-		38241130	-1	no_errors	ENST00000302609	ensembl	human	known	74_37	silent	SNP	0.768	T	T	38241130	C	T	38241130	2	4	123	1	0	0	0	0	0	0	0	1	17801	610	22	2		2	ZNF25	10	38241130	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	26256377	38241130	97293617	53	9138											
A1CF	29974	genome.wustl.edu	37	chr10	52573658	52573658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggggttttaatgtgacagGattcattggggtgagctcca	14	5	1	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:52573658G>T	ENST00000373993.1	-	8	1350	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	A1CF_ENST00000374001.2_Missense_Mutation_p.P428T|A1CF_ENST00000395495.1_Missense_Mutation_p.P381T|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.P436T|A1CF_ENST00000282641.2_Missense_Mutation_p.P436T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.P428T|A1CF_ENST00000395489.2_Missense_Mutation_p.P429T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	436					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.P428S(1)|p.P436S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AATGTGACAGGATTCATTGGG	0.438																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000148584						151	153	152					10																	52573658		2203	4300	6503	A1CF	SO:0001583	missense	0			-	HGNC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1306C>A	10.37:g.52573658G>T	ENSP00000363105:p.Pro436Thr	Somatic	0	211	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	137	25.95	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.P436T	ENST00000373993.1	37	c.1306	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	G	6.943	0.543785	0.13312	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.13901	2.8;2.78;2.8;2.76;2.78;2.55;2.77	5.87	4.95	0.65309	.	0.266360	0.43260	N	0.000600	T	0.09992	0.0245	L	0.27053	0.805	0.32760	N	0.505275	B;B;B;B	0.12013	0.003;0.0;0.001;0.005	B;B;B;B	0.12837	0.008;0.001;0.001;0.007	T	0.13045	-1.0524	10	0.20519	T	0.43	-7.5986	11.6903	0.51512	0.0:0.0:0.6671:0.3329	.	429;436;428;436	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	428;436;428;436;436;381;411;429	ENSP00000363113:P428T;ENSP00000363105:P436T;ENSP00000363109:P428T;ENSP00000363107:P436T;ENSP00000282641:P436T;ENSP00000378873:P381T;ENSP00000378868:P429T	ENSP00000282641:P436T	P	-	1	0	A1CF	52243664	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	4.058000	0.57463	1.426000	0.47256	0.655000	0.94253	CCT	-	tigrfam_HnRNP_R/Q_splicing_fac		0.438	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	protein_coding	OTTHUMT00000048086.2	G	NM_014576	-		52573658	-1	no_errors	ENST00000282641	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52573658	G	T	52573658	3	4	123	1	0	0	0	0	1	0	0	0	2	1174	41	3	494	3	A1CF	10	52573658	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	14332528	52573658	82961089	54	9139											
PRKG1	5592	genome.wustl.edu	37	chr10	54040573	54040573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtttgaagattctacaacCagattttacacagcatgtgt	7	8	1	3	rs374020671		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:54040573C>A	ENST00000401604.2	+	13	1577	c.1383C>A	c.(1381-1383)acC>acA	p.T461T	PRKG1_ENST00000373975.2_Silent_p.T179T|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373980.4_Silent_p.T476T|PRKG1_ENST00000373985.1_Silent_p.T449T|PRKG1-AS1_ENST00000426785.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	461	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATTCTACAACCAGATTTTACA	0.348																																																	0								ENSG00000185532	C	,	0,4406		0,0,2203	133	124	127		1383,1428	1.2	1	10		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRKG1	NM_001098512.2,NM_006258.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	461/672,476/687	54040573	1,13005	2203	4300	6503	PRKG1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1383C>A	10.37:g.54040573C>A		Somatic	0	50	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP							pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.T476	ENST00000401604.2	37	c.1428	CCDS44399.1	10																																																																																			-	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.348	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	protein_coding		C		-		54040573	1	no_errors	ENST00000373980	ensembl	human	known	74_37	silent	SNP	0.995	A	A	54040573	C	A	54040573	2	1	123	1	0	0	0	0	0	0	0	1	12527	581	21	3		3	PRKG1	10	54040573	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	1466915	54040573	81494174	55	9140											
RNLS	55328	genome.wustl.edu	37	chr10	90034752	90034752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcgccatcatccaggggCtcttcgcacatcctagaatc	7	15	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:90034752C>T	ENST00000371947.3	-	7	2253	c.914G>A	c.(913-915)aGc>aAc	p.S305N	RNLS_ENST00000437752.1_Missense_Mutation_p.S222N	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CATCCAGGGGCTCTTCGCACA	0.448																																																	0								ENSG00000184719						124	103	110					10																	90034752		2203	4300	6503	RNLS	SO:0001583	missense	0			-	HGNC	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000371947.3:c.914G>A	10.37:g.90034752C>T	ENSP00000361015:p.Ser305Asn	Somatic	0	81	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	55	12.50	Q9BS33|Q9NUP8	Missense_Mutation	SNP							pfam_Amino_oxidase	p.S305N	ENST00000371947.3	37	c.914	CCDS7388.1	10	.	.	.	.	.	.	.	.	.	.	C	6.047	0.377104	0.11466	.	.	ENSG00000184719	ENST00000371947;ENST00000437752	T;T	0.48522	0.83;0.81	1.39	-1.98	0.07480	.	.	.	.	.	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	P;B	0.37663	0.604;0.386	B;B	0.32090	0.14;0.047	T	0.16453	-1.0402	9	0.12103	T	0.63	.	2.7019	0.05150	0.0:0.3661:0.2566:0.3773	.	222;305	B4DJW3;Q5VYX0-2	.;.	N	305;222	ENSP00000361015:S305N;ENSP00000387577:S222N	ENSP00000361015:S305N	S	-	2	0	RNLS	90024732	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.345000	0.02637	-0.707000	0.05022	-0.759000	0.03464	AGC	-	NULL		0.448	RNLS-001	KNOWN	basic|CCDS	protein_coding	RNLS	protein_coding	OTTHUMT00000049249.1	C	NM_018363	-		90034752	-1	no_errors	ENST00000371947	ensembl	human	known	74_37	missense	SNP	0.001	T	T	90034752	C	T	90034752	3	4	123	1	0	0	0	0	1	0	0	0	13513	797	28	2	37	2	RNLS	10	90034752	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	35994179	90034752	45499995	56	9141											
CYP17A1	1586	genome.wustl.edu	37	chr10	104592342	104592342	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcacctctcggatggtGgcctccagcaggaggagacg	15	12	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:104592342G>T	ENST00000369887.3	-	6	1236	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	355					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CTCGGATGGTGGCCTCCAGCA	0.582																																																	0								ENSG00000148795						136	109	118					10																	104592342		2203	4300	6503	CYP17A1	SO:0001819	synonymous_variant	0			-	HGNC	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1065C>A	10.37:g.104592342G>T		Somatic	0	39	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5TZV7	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A355	ENST00000369887.3	37	c.1065	CCDS7541.1	10																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.582	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	protein_coding	OTTHUMT00000050101.1	G	NM_000102	-		104592342	-1	no_errors	ENST00000369887	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104592342	G	T	104592342	2	4	123	1	0	0	0	0	0	0	0	1	4149	1335	47	3		3	CYP17A1	10	104592342	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	14557590	104592342	30942405	57	9142											
CTBP2	1488	genome.wustl.edu	37	chr10	126686543	126686543	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcacgtaccaaagccaatGaggcccagcgtctccccacg	10	16	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr10:126686543G>A	ENST00000337195.5	-	6	954	c.555C>T	c.(553-555)ctC>ctT	p.L185L	CTBP2_ENST00000334808.6_Silent_p.L253L|CTBP2_ENST00000411419.2_Silent_p.L185L|CTBP2_ENST00000494626.2_Silent_p.L185L|CTBP2_ENST00000309035.6_Silent_p.L725L|CTBP2_ENST00000531469.1_Silent_p.L185L	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	185					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CAAAGCCAATGAGGCCCAGCG	0.687																																																	0								ENSG00000175029						77	59	65					10																	126686543		2202	4299	6501	CTBP2	SO:0001819	synonymous_variant	0			-	HGNC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.555C>T	10.37:g.126686543G>A		Somatic	0	118	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.40	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.L725	ENST00000337195.5	37	c.2175	CCDS7643.1	10																																																																																			-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.687	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	protein_coding	OTTHUMT00000050900.3	G	NM_001083914	-		126686543	-1	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	SNP	1.000	A	A	126686543	G	A	126686543	2	1	123	1	0	0	0	0	0	0	0	1	4000	1277	45	2		2	CTBP2	10	126686543	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	22094201	126686543	8848204	58	9143											
ANO5	203859	genome.wustl.edu	37	chr11	22283767	22283767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactcatcctgcttctacGtagctttctttaaagggaag	7	9	3	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr11:22283767G>A	ENST00000324559.8	+	16	2040	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	575					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTTCTACGTAGCTTTCTT	0.363																																																	0								ENSG00000171714						148	144	146					11																	22283767		2203	4300	6503	ANO5	SO:0001583	missense	0			-	HGNC	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1723G>A	11.37:g.22283767G>A	ENSP00000315371:p.Val575Ile	Somatic	0	191	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	145	19.89		Missense_Mutation	SNP							pfam_Anoctamin	p.V575I	ENST00000324559.8	37	c.1723	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963749	0.53507	.	.	ENSG00000171714	ENST00000324559	T	0.57273	0.41	6.04	4.15	0.48705	.	0.051383	0.85682	N	0.000000	T	0.47340	0.1440	N	0.26130	0.795	0.58432	D	0.999991	D	0.69078	0.997	P	0.57720	0.826	T	0.46205	-0.9208	10	0.02654	T	1	.	11.2044	0.48760	0.0655:0.0:0.8056:0.1289	.	575	Q75V66	ANO5_HUMAN	I	575	ENSP00000315371:V575I	ENSP00000315371:V575I	V	+	1	0	ANO5	22240343	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.210000	0.58500	0.862000	0.35528	0.561000	0.74099	GTA	-	pfam_Anoctamin		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	protein_coding	OTTHUMT00000387615.1	G	NM_213599	-		22283767	1	no_errors	ENST00000324559	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22283767	G	A	22283767	3	1	123	1	0	0	0	0	1	0	0	0	700	1145	40	1	1785	1	ANO5	11	22283767	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		22283767	112722749	59	9144											
PIWIL4	143689	genome.wustl.edu	37	chr11	94340797	94340797	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggcgagctgtgggctgtgGaaatacctgtaaggaccctg	16	8	0	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr11:94340797G>T	ENST00000299001.6	+	14	2042	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	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	611	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)				GTGGGCTGTGGAAATACCTGT	0.403																																																	0								ENSG00000134627						60	59	60					11																	94340797		2201	4298	6499	PIWIL4	SO:0001587	stop_gained	0			-	HGNC	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.1831G>T	11.37:g.94340797G>T	ENSP00000299001:p.Glu611*	Somatic	0	56	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Nonsense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.E611*	ENST00000299001.6	37	c.1831	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	G	38	7.036132	0.98017	.	.	ENSG00000134627	ENST00000299001	.	.	.	4.84	4.84	0.62591	.	0.171732	0.40469	N	0.001082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-16.7191	16.876	0.86052	0.0:0.0:1.0:0.0	.	.	.	.	X	611	.	ENSP00000299001:E611X	E	+	1	0	PIWIL4	93980445	1.000000	0.71417	0.998000	0.56505	0.338000	0.28826	9.130000	0.94437	2.506000	0.84524	0.557000	0.71058	GAA	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.403	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	protein_coding	OTTHUMT00000396388.1	G	NM_152431	-		94340797	1	no_errors	ENST00000299001	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	94340797	G	T	94340797	4	4	123	1	0	0	0	0	0	1	0	0	11962	1175	41	3	1885	3	PIWIL4	11	94340797	Nonsense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	72057030	94340797	40665719	60	9145											
C11orf63	79864	genome.wustl.edu	37	chr11	122774688	122774688	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctatgacccgaactggaagAgtaagaaggaggaagggcag	16	6	0	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr11:122774688A>T	ENST00000531316.1	+	2	492	c.400A>T	c.(400-402)Agt>Tgt	p.S134C	C11orf63_ENST00000307257.6_Missense_Mutation_p.S134C|C11orf63_ENST00000227349.2_Missense_Mutation_p.S134C			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	134					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAACTGGAAGAGTAAGAAGGA	0.493																																																	0								ENSG00000109944						132	148	143					11																	122774688		2202	4299	6501	C11orf63	SO:0001583	missense	0			-	HGNC	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.400A>T	11.37:g.122774688A>T	ENSP00000431669:p.Ser134Cys	Somatic	0	64	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP							NULL	p.S134C	ENST00000531316.1	37	c.400	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133321	0.56828	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.48522	0.81;0.81	5.73	4.57	0.56435	.	0.974930	0.08441	N	0.945424	T	0.58047	0.2095	L	0.57536	1.79	0.23309	N	0.997935	D;D	0.63046	0.992;0.992	P;P	0.53146	0.634;0.719	T	0.44267	-0.9339	10	0.48119	T	0.1	-0.1744	11.5515	0.50723	0.8505:0.1495:0.0:0.0	.	134;134	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	C	134	ENSP00000227349:S134C;ENSP00000431669:S134C	ENSP00000227349:S134C	S	+	1	0	C11orf63	122279898	0.817000	0.29147	0.377000	0.26055	0.387000	0.30353	2.086000	0.41643	0.948000	0.37687	0.533000	0.62120	AGT	-	NULL		0.493	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	protein_coding	OTTHUMT00000387511.1	A	NM_024806	-		122774688	1	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	SNP	0.753	T	T	122774688	A	T	122774688	3	4	123	1	0	0	0	0	1	0	0	0	1656	304	11	5	406	5	C11orf63	11	122774688	Missense_Mutation	SNP	A	TCGA-DX-AB2V-01A-11D-A417-09	28433891	122774688	12231828	61	9146											
VWF	7450	genome.wustl.edu	37	chr12	6131103	6131103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtcactgggattcaaggTgactttctttcctgaggcaa	12	8	3	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr12:6131103T>C	ENST00000261405.5	-	27	3891	c.3637A>G	c.(3637-3639)Acc>Gcc	p.T1213A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1213					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGATTCAAGGTGACTTTCTTT	0.502																																																	0								ENSG00000110799						135	142	139					12																	6131103		2203	4300	6503	VWF	SO:0001583	missense	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3637A>G	12.37:g.6131103T>C	ENSP00000261405:p.Thr1213Ala	Somatic	0	330	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	405	14.79	Q8TCE8|Q99806	Missense_Mutation	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.T1213A	ENST00000261405.5	37	c.3637	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	14.55	2.570276	0.45798	.	.	ENSG00000110799	ENST00000261405	T	0.35048	1.33	4.74	3.51	0.40186	.	0.584112	0.14329	N	0.326469	T	0.30386	0.0763	M	0.75447	2.3	0.80722	D	1	B	0.27791	0.189	B	0.19148	0.024	T	0.09443	-1.0674	10	0.13470	T	0.59	.	4.8434	0.13501	0.1686:0.0975:0.0:0.7339	.	1213	P04275	VWF_HUMAN	A	1213	ENSP00000261405:T1213A	ENSP00000261405:T1213A	T	-	1	0	VWF	6001364	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	2.094000	0.41719	2.120000	0.65058	0.397000	0.26171	ACC	-	pirsf_VWF		0.502	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	T	NM_000552	-		6131103	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	SNP	1.000	C	C	6131103	T	C	6131103	3	2	123	1	0	0	0	0	1	0	0	0	17253	1696	59	5	4908	5	VWF	12	6131103	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09		6131103	127720792	62	9147											
PHC1	1911	genome.wustl.edu	37	chr12	9072357	9072357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcttttcctaggctctGcaagcactgcagcggcagcc	9	16	2	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr12:9072357G>A	ENST00000543824.1	+	4	452	c.120G>A	c.(118-120)ctG>ctA	p.L40L	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000544916.1_Silent_p.L40L|PHC1_ENST00000433083.2_Intron			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	40					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCTAGGCTCTGCAAGCACTGC	0.507																																																	0								ENSG00000111752						59	57	58					12																	9072357		2203	4300	6503	PHC1	SO:0001819	synonymous_variant	0			-	HGNC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.120G>A	12.37:g.9072357G>A		Somatic	0	28	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DUV4|Q8WVM3|Q9BU63	Silent	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.L40	ENST00000543824.1	37	c.120	CCDS8597.1	12																																																																																			-	NULL		0.507	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	protein_coding	OTTHUMT00000399115.1	G	NM_004426	-		9072357	1	no_errors	ENST00000543824	ensembl	human	known	74_37	silent	SNP	1.000	A	A	9072357	G	A	9072357	2	1	123	1	0	0	0	0	0	0	0	1	11818	1306	46	2		2	PHC1	12	9072357	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	2941254	9072357	124779538	63	9148											
C12orf26	84190	genome.wustl.edu	37	chr12	82752386	82752386	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgaccccggacctgccCacgctgcgtgccaagttgca	12	17	0	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr12:82752386C>G	ENST00000248306.3	+	1	111	c.42C>G	c.(40-42)ccC>ccG	p.P14P	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	14							methyltransferase activity (GO:0008168)										CGGACCTGCCCACGCTGCGTG	0.627											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000127720						60	51	54					12																	82752386		2203	4300	6503	METTL25	SO:0001819	synonymous_variant	0			-	HGNC	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.42C>G	12.37:g.82752386C>G		Somatic	0	68	0	1216	0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	68	15.00	Q9H5Y3	Silent	SNP							NULL	p.P14	ENST00000248306.3	37	c.42	CCDS9024.1	12																																																																																			-	NULL		0.627	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	protein_coding	OTTHUMT00000408192.1	C	NM_032230	-		82752386	1	no_errors	ENST00000248306	ensembl	human	known	74_37	silent	SNP	0.058	G	G	82752386	C	G	82752386	2	3	123	1	0	0	0	0	0	0	0	1	1681	581	21	4		4	C12orf26	12	82752386	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	73680029	82752386	51099509	64	9149											
TMTC2	160335	genome.wustl.edu	37	chr12	83455574	83455574	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcctcaatgaagcagctgaGaagtattatgatctggcagc	11	8	2	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr12:83455574G>A	ENST00000321196.3	+	11	3002	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	TMTC2_ENST00000549919.1_Silent_p.E759E	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	765					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAGCAGCTGAGAAGTATTATG	0.353																																																	0								ENSG00000179104						117	114	115					12																	83455574		2203	4300	6503	TMTC2	SO:0001819	synonymous_variant	0			-	HGNC	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.2295G>A	12.37:g.83455574G>A		Somatic	0	99	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	131	13.82	B2RCU7|Q8N2K8	Silent	SNP							pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E765	ENST00000321196.3	37	c.2295	CCDS9025.1	12																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.353	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	protein_coding	OTTHUMT00000405663.1	G	NM_152588	-		83455574	1	no_errors	ENST00000321196	ensembl	human	known	74_37	silent	SNP	1.000	A	A	83455574	G	A	83455574	2	1	123	1	0	0	0	0	0	0	0	1	16268	933	33	2		2	TMTC2	12	83455574	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	703188	83455574	50396321	65	9150											
TXNRD1	7296	genome.wustl.edu	37	chr12	104725408	104725408	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtggagaagtttggggaaGaaaatattgaggtaagttct	14	2	1	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr12:104725408G>A	ENST00000529546.1	+	11	1300	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	TXNRD1_ENST00000388854.3_Missense_Mutation_p.E449K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E547K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E466K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E359K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E397K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E496K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E447K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E397K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E547K|TXNRD1_ENST00000526691.1_Missense_Mutation_p.E449K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E441K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E441K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E512K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E397K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	547					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GTTTGGGGAAGAAAATATTGA	0.333																																					Ovarian(139;555 1836 9186 9946 10884)												0								ENSG00000198431						71	64	66					12																	104725408		1817	4080	5897	TXNRD1	SO:0001583	missense	0			-	HGNC		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1075G>A	12.37:g.104725408G>A	ENSP00000434919:p.Glu359Lys	Somatic	0	257	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	336	8.45	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.E547K	ENST00000529546.1	37	c.1639	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808922	0.70797	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70282	-0.34;-0.33;-0.43;-0.45;-0.45;-0.43;-0.44;-0.25;-0.25;-0.43;-0.45;-0.37;-0.44;-0.47;-0.46	5.67	5.67	0.87782	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.185926	0.56097	D	0.000024	T	0.68201	0.2975	L	0.56199	1.76	0.58432	D	0.999999	B;B;B;B;B;B;B	0.21606	0.004;0.002;0.053;0.002;0.002;0.058;0.032	B;B;B;B;B;B;B	0.27380	0.03;0.02;0.074;0.019;0.012;0.079;0.055	T	0.66002	-0.6031	10	0.56958	D	0.05	-26.477	14.0461	0.64706	0.072:0.0:0.928:0.0	.	447;441;547;449;397;547;512	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	K	547;547;397;449;449;397;441;359;359;397;447;496;441;512;466	ENSP00000434516:E547K;ENSP00000412045:E547K;ENSP00000421934:E397K;ENSP00000435929:E449K;ENSP00000373506:E449K;ENSP00000347020:E397K;ENSP00000435123:E441K;ENSP00000434919:E359K;ENSP00000442709:E359K;ENSP00000433425:E397K;ENSP00000440978:E447K;ENSP00000367310:E496K;ENSP00000380844:E441K;ENSP00000393328:E512K;ENSP00000432812:E466K	ENSP00000347020:E397K	E	+	1	0	TXNRD1	103249538	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.476000	0.66793	2.693000	0.91896	0.650000	0.86243	GAA	-	pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase		0.333	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	protein_coding	OTTHUMT00000389969.1	G	NM_003330	-		104725408	1	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104725408	G	A	104725408	3	1	123	1	0	0	0	0	1	0	0	0	16814	943	33	2	1707	2	TXNRD1	12	104725408	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	21269834	104725408	29126487	66	9151											
NCOR2	9612	genome.wustl.edu	37	chr12	124856967	124856967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggggcgtaggggctccgGtggcttcagaggccggggtg	23	8	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr12:124856967G>A	ENST00000405201.1	-	20	2408	c.2408C>T	c.(2407-2409)aCc>aTc	p.T803I	NCOR2_ENST00000397355.1_Missense_Mutation_p.T786I|NCOR2_ENST00000404621.1_Missense_Mutation_p.T785I|NCOR2_ENST00000356219.3_Missense_Mutation_p.T803I|NCOR2_ENST00000404121.2_Missense_Mutation_p.T356I|NCOR2_ENST00000429285.2_Missense_Mutation_p.T785I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	803	Pro-rich.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGGGGCTCCGGTGGCTTCAGA	0.741																																																	0								ENSG00000196498						5	7	6					12																	124856967		1717	3764	5481	NCOR2	SO:0001583	missense	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2408C>T	12.37:g.124856967G>A	ENSP00000384018:p.Thr803Ile	Somatic	0	31	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T803I	ENST00000405201.1	37	c.2408	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	7.472	0.646879	0.14516	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;2.5;2.22;2.5;-0.12	4.63	2.79	0.32731	.	2.446060	0.01959	N	0.043211	T	0.44414	0.1292	N	0.08118	0	0.09310	N	1	B;B;B	0.23735	0.054;0.054;0.09	B;B;B	0.16289	0.006;0.006;0.015	T	0.36720	-0.9736	10	0.49607	T	0.09	-0.4545	6.9777	0.24686	0.0:0.2493:0.5827:0.168	.	785;786;803	C9J0Q5;C9J239;C9JFD3	.;.;.	I	803;785;803;786;802;356;785;803	ENSP00000384018:T803I;ENSP00000384202:T785I;ENSP00000348551:T803I;ENSP00000380513:T786I;ENSP00000385618:T356I;ENSP00000400281:T785I;ENSP00000402808:T803I	ENSP00000348551:T803I	T	-	2	0	NCOR2	123422920	0.995000	0.38212	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	0.380000	0.24823	-0.226000	0.12346	ACC	-	NULL		0.741	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	G	NM_006312	-		124856967	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124856967	G	A	124856967	3	1	123	1	0	0	0	0	1	0	0	0	10238	1261	44	2	5272	2	NCOR2	12	124856967	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	20131559	124856967	8994928	67	9152											
AKAP6	9472	genome.wustl.edu	37	chr14	33291068	33291068	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatttggtaaagccctgcgCatgtcatggaggagacatga	12	8	1	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr14:33291068C>A	ENST00000280979.4	+	13	4219	c.4049C>A	c.(4048-4050)gCa>gAa	p.A1350E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1350					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGCCCTGCGCATGTCATGGA	0.433																																					Melanoma(49;821 1200 7288 13647 42351)												0								ENSG00000151320						68	64	66					14																	33291068		2203	4299	6502	AKAP6	SO:0001583	missense	0			-	HGNC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4049C>A	14.37:g.33291068C>A	ENSP00000280979:p.Ala1350Glu	Somatic	0	51	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	92	13.21	A7E242|A7E2D4|O15028	Missense_Mutation	SNP							smart_Spectrin/alpha-actinin	p.A1350E	ENST00000280979.4	37	c.4049	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.457805	0.01071	.	.	ENSG00000151320	ENST00000280979	T	0.04654	3.58	5.71	2.89	0.33648	.	1.095730	0.06825	N	0.792961	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.43065	-0.9414	10	0.52906	T	0.07	0.0083	2.9334	0.05807	0.3605:0.3945:0.0:0.245	.	1350	Q13023	AKAP6_HUMAN	E	1350	ENSP00000280979:A1350E	ENSP00000280979:A1350E	A	+	2	0	AKAP6	32360819	0.000000	0.05858	0.176000	0.23000	0.504000	0.33889	0.225000	0.17757	0.753000	0.32945	0.563000	0.77884	GCA	-	NULL		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	C	NM_004274	-		33291068	1	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	SNP	0.000	A	A	33291068	C	A	33291068	3	1	123	1	0	0	0	0	1	0	0	0	455	710	25	3	4095	3	AKAP6	14	33291068	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		33291068	74058472	68	9153											
RYR3	6263	genome.wustl.edu	37	chr15	34060884	34060884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaaacttgccgctctcGttagacacagaatttccctc	6	14	2	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr15:34060884G>A	ENST00000389232.4	+	61	8801	c.8731G>A	c.(8731-8733)Gtt>Att	p.V2911I	RYR3_ENST00000415757.3_Missense_Mutation_p.V2911I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2911					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)		TGCCGCTCTCGTTAGACACAG	0.443																																																	0								ENSG00000198838						176	173	174					15																	34060884		1962	4158	6120	RYR3	SO:0001583	missense	0			-	HGNC		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.8731G>A	15.37:g.34060884G>A	ENSP00000373884:p.Val2911Ile	Somatic	0	94	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	70	27.84	O15175|Q15412	Missense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V2911I	ENST00000389232.4	37	c.8731	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687548	0.88639	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96651	-4.08;-4.08	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	L	0.39397	1.21	0.80722	D	1	D;P	0.56746	0.977;0.935	P;B	0.51701	0.677;0.252	D	0.94855	0.8017	10	0.39692	T	0.17	.	19.3941	0.94598	0.0:0.0:1.0:0.0	.	2911;2911	Q15413-2;Q15413	.;RYR3_HUMAN	I	2911	ENSP00000373884:V2911I;ENSP00000399610:V2911I	ENSP00000354735:V2911I	V	+	1	0	RYR3	31848176	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.601000	0.98297	2.885000	0.99019	0.655000	0.94253	GTT	-	superfamily_ARM-type_fold		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		34060884	1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34060884	G	A	34060884	3	1	123	1	0	0	0	0	1	0	0	0	13778	1145	40	1	8973	1	RYR3	15	34060884	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		34060884	68470508	69	9154											
LMAN1L	79748	genome.wustl.edu	37	chr15	75111104	75111104	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctgtcattgggacttccgGaaccggccacaccccttcag	9	16	2	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr15:75111104G>T	ENST00000309664.5	+	5	682	c.543G>T	c.(541-543)cgG>cgT	p.R181R	LMAN1L_ENST00000379709.3_Silent_p.R181R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	181	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGACTTCCGGAACCGGCCAC	0.577																																																	0								ENSG00000140506						53	43	47					15																	75111104		2197	4296	6493	LMAN1L	SO:0001819	synonymous_variant	0			-	HGNC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.543G>T	15.37:g.75111104G>T		Somatic	0	42	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6UWN2	Silent	SNP							pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.R181	ENST00000309664.5	37	c.543	CCDS10270.1	15																																																																																			-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.577	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	protein_coding	OTTHUMT00000286397.4	G		-		75111104	1	no_errors	ENST00000309664	ensembl	human	known	74_37	silent	SNP	1.000	T	T	75111104	G	T	75111104	2	4	123	1	0	0	0	0	0	0	0	1	8839	1161	41	3		3	LMAN1L	15	75111104	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	41050220	75111104	27420288	70	9155											
RASGRF1	5923	genome.wustl.edu	37	chr15	79310205	79310205	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcctttggctccaccccGattttaaaatccaagtgatc	6	12	0	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr15:79310205G>A	ENST00000419573.3	-	12	1924	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	RASGRF1_ENST00000558480.2_Silent_p.I550I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	550	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCCACCCCGATTTTAAAAT	0.502																																																	0								ENSG00000058335						121	111	114					15																	79310205		2196	4293	6489	RASGRF1	SO:0001819	synonymous_variant	0			-	HGNC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1650C>T	15.37:g.79310205G>A		Somatic	0	194	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	186	15.84	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I550	ENST00000419573.3	37	c.1650	CCDS10309.1	15																																																																																			-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.502	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	G	NM_002891	-		79310205	-1	no_errors	ENST00000419573	ensembl	human	known	74_37	silent	SNP	0.430	A	A	79310205	G	A	79310205	2	1	123	1	0	0	0	0	0	0	0	1	13080	1048	37	1		1	RASGRF1	15	79310205	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	4199101	79310205	23221187	71	9156											
KIFC3	3801	genome.wustl.edu	37	chr16	57832148	57832148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccacgtcctgcgagagGggaccatggcctggggctca	16	12	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr16:57832148G>A	ENST00000379655.4	-	2	265	c.8C>T	c.(7-9)cCc>cTc	p.P3L	KIFC3_ENST00000539578.1_5'Flank|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000445690.2_Missense_Mutation_p.P3L|KIFC3_ENST00000421376.2_5'Flank|KIFC3_ENST00000465878.2_5'Flank|KIFC3_ENST00000541240.1_Missense_Mutation_p.P25L	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	3					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCTGCGAGAGGGGACCATGGC	0.711																																																	0								ENSG00000140859						3	3	3					16																	57832148		1813	3510	5323	KIFC3	SO:0001583	missense	0			-	HGNC	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.8C>T	16.37:g.57832148G>A	ENSP00000368976:p.Pro3Leu	Somatic	0	14	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P3L	ENST00000379655.4	37	c.8	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023244	0.54683	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000541240	T;T;T	0.78246	-1.16;-1.16;-1.16	5.32	3.22	0.36961	.	0.925411	0.08973	U	0.866997	T	0.61590	0.2359	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.54497	-0.8285	10	0.87932	D	0	.	10.8289	0.46649	0.0:0.0:0.6234:0.3766	.	25;3	B7Z484;Q9BVG8	.;KIFC3_HUMAN	L	3;3;25	ENSP00000368976:P3L;ENSP00000401696:P3L;ENSP00000442008:P25L	ENSP00000368976:P3L	P	-	2	0	KIFC3	56389649	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	2.421000	0.44688	1.172000	0.42781	0.591000	0.81541	CCC	-	NULL		0.711	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	protein_coding	OTTHUMT00000257329.2	G	NM_005550	-		57832148	-1	no_errors	ENST00000379655	ensembl	human	known	74_37	missense	SNP	0.995	A	A	57832148	G	A	57832148	3	1	123	1	0	0	0	0	1	0	0	0	8316	1232	43	2	2574	2	KIFC3	16	57832148	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		57832148	32522605	72	9157											
ZFHX3	463	genome.wustl.edu	37	chr16	72827758	72827758	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctgcccaggccgatcTccgctgtcaccagatttgcc	9	16	3	1	rs699444	byFrequency	TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr16:72827758T>A	ENST00000268489.5	-	9	9495	c.8823A>T	c.(8821-8823)ggA>ggT	p.G2941G	ZFHX3_ENST00000397992.5_Silent_p.G2027G|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2941					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)			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)				CAGGCCGATCTCCGCTGTCAC	0.522																																																	0								ENSG00000140836						62	60	60					16																	72827758		2198	4300	6498	ZFHX3	SO:0001819	synonymous_variant	0			-	HGNC	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.8823A>T	16.37:g.72827758T>A		Somatic	0	35	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	14	21.19	D3DWS8|O15101|Q13719	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G2941	ENST00000268489.5	37	c.8823	CCDS10908.1	16																																																																																			-	superfamily_Homeodomain-like		0.522	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	T	NM_006885	-		72827758	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	SNP	1.000	A	A	72827758	T	A	72827758	2	1	123	1	0	0	0	0	0	0	0	1	17641	1538	54	5		5	ZFHX3	16	72827758	Silent	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	14995610	72827758	17526995	73	9158											
TP53	7157	genome.wustl.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	14	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_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.?(56)|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)	GCAAACCAGACCTCAGGCGGC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S		ENSG00000141510						80	75	77					17																	7578176		2203	4300	6503	TP53	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;	-	HGNC	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.672+1G>T	17.37:g.7578176C>A		Somatic	0	148	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	168	41	80.38	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							-	e5+1	ENST00000269305.4	37	c.672+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.	-	-		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578176	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	7578176	C	A	7578176	5	1	123	1	0	0	0	0	0	0	1	0	16388	521	18	3	621	3	TP53	17	7578176	Splice_Site	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		7578176	73617034	74	9159											
ACCN1	40	genome.wustl.edu	37	chr17	31348283	31348285	+	In_Frame_Del	DEL	ATA	ATA	-													ttcttctgttcaattgtctcAtaattgagagcttcaaaaaa							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	ATA	ATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:31348283_31348285delATA	ENST00000359872.6	-	7	2001_2003	c.1240_1242delTAT	c.(1240-1242)tatdel	p.Y414del	ASIC2_ENST00000225823.2_In_Frame_Del_p.Y465del|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	414					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CAATTGTCTCATAATTGAGAGCT	0.419																																																	0								ENSG00000108684																																			ASIC2	SO:0001651	inframe_deletion	0				HGNC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1240_1242delTAT	17.37:g.31348283_31348285delATA	ENSP00000352934:p.Tyr414del	Somatic	0	79	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	67	19.28	E9PBX2|Q13553|Q6DJU1|Q8N3E2	In_Frame_Del	DEL							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.Y465in_frame_del	ENST00000359872.6	37	c.1395_1393	CCDS42296.1	17																																																																																			-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.419	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	protein_coding	OTTHUMT00000447552.1	ATA	NM_183377, NM_001094			31348285	-1	no_errors	ENST00000225823	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	31348285	ATA	-	31348283	7	5	123	1	0	1	0	1	0	0	0	0	128	224	8	0	312	0	ACCN1	17	31348283	In_Frame_Del	DEL	ATA	TCGA-DX-AB2V-01A-11D-A417-09	23770107	31348283	49846927	75	9160											
UNC45B	146862	genome.wustl.edu	37	chr17	33475325	33475325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaaggaggaaggaaacCggcatttccagctccaggac	13	10	0	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:33475325C>T	ENST00000268876.5	+	2	140	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	UNC45B_ENST00000394570.2_Missense_Mutation_p.R15W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R15W|UNC45B_ENST00000591048.1_Missense_Mutation_p.R15W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R15W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	15					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)				GGAAGGAAACCGGCATTTCCA	0.597																																																	0								ENSG00000141161						79	72	74					17																	33475325		2203	4300	6503	UNC45B	SO:0001583	missense	0			-	HGNC	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.43C>T	17.37:g.33475325C>T	ENSP00000268876:p.Arg15Trp	Somatic	0	142	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	97	18.49	Q495Q8|Q495Q9	Missense_Mutation	SNP							pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R15W	ENST00000268876.5	37	c.43	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555765	0.65425	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.79	1.32	0.21799	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.899451	0.09560	N	0.785753	T	0.59211	0.2177	L	0.35542	1.07	0.25650	N	0.986108	B;P;B	0.40266	0.152;0.71;0.0	B;B;B	0.26864	0.074;0.035;0.001	T	0.50083	-0.8869	10	0.87932	D	0	-5.326	11.9547	0.52974	0.67:0.33:0.0:0.0	.	15;15;15	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	15	ENSP00000378071:R15W;ENSP00000268876:R15W;ENSP00000412840:R15W;ENSP00000367710:R15W	ENSP00000268876:R15W	R	+	1	2	UNC45B	30499438	0.001000	0.12720	0.403000	0.26384	0.900000	0.52787	0.858000	0.27845	0.574000	0.29417	0.551000	0.68910	CGG	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.597	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	protein_coding	OTTHUMT00000256458.2	C	NM_173167	-		33475325	1	no_errors	ENST00000268876	ensembl	human	known	74_37	missense	SNP	0.584	T	T	33475325	C	T	33475325	3	4	123	1	0	0	0	0	1	0	0	0	16996	643	23	1	45	1	UNC45B	17	33475325	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	2127042	33475325	47719885	76	9161											
KRTAP9-2	83899	genome.wustl.edu	37	chr17	39383043	39383043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcctgctgtgtgtccaGctgctgccagccttgctgcc	12	17	0	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:39383043G>T	ENST00000377721.3	+	1	144	c.137G>T	c.(136-138)aGc>aTc	p.S46I	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.S46I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	46	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTGTGTCCAGCTGCTGCCAG	0.647																																																	0								ENSG00000239886						63	56	58					17																	39383043		2203	4299	6502	KRTAP9-2	SO:0001583	missense	0			-	HGNC	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.137G>T	17.37:g.39383043G>T	ENSP00000366950:p.Ser46Ile	Somatic	0	231	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	136	22.60	Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP							NULL	p.S46I	ENST00000377721.3	37	c.137	CCDS32651.1	17	.	.	.	.	.	.	.	.	.	.	.	12.17	1.858830	0.32884	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01933	4.55;4.61	2.85	1.84	0.25277	.	.	.	.	.	T	0.04452	0.0122	M	0.82716	2.605	0.31899	N	0.616243	B	0.17268	0.021	B	0.15484	0.013	T	0.01228	-1.1412	9	0.52906	T	0.07	.	7.015	0.24883	0.0:0.0:0.7286:0.2714	.	46	Q9BYQ4	KRA92_HUMAN	I	46	ENSP00000366950:S46I;ENSP00000398325:S46I	ENSP00000366950:S46I	S	+	2	0	KRTAP9-2	36636569	0.618000	0.27051	1.000000	0.80357	0.963000	0.63663	-0.229000	0.09098	0.746000	0.32786	0.552000	0.68991	AGC	-	NULL		0.647	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-2	protein_coding	OTTHUMT00000257717.1	G		-		39383043	1	no_errors	ENST00000377721	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39383043	G	T	39383043	3	4	123	1	0	0	0	0	1	0	0	0	8575	971	34	3	139	3	KRTAP9-2	17	39383043	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	5907718	39383043	41812167	77	9162											
MAPT	4137	genome.wustl.edu	37	chr17	44049253	44049253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagacccccactgaggaCggatctgaggaaccgggctc	13	14	1	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:44049253C>A	ENST00000571987.1	+	2	162	c.162C>A	c.(160-162)gaC>gaA	p.D54E	MAPT_ENST00000431008.3_Missense_Mutation_p.D54E|MAPT_ENST00000576518.1_5'Flank|MAPT_ENST00000344290.5_Missense_Mutation_p.D54E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.D54E|MAPT_ENST00000574436.1_Missense_Mutation_p.D54E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.D54E|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000420682.2_Missense_Mutation_p.D54E|MAPT_ENST00000340799.5_Missense_Mutation_p.D54E|MAPT_ENST00000262410.5_Missense_Mutation_p.D54E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.D54E			P10636	TAU_HUMAN	microtubule-associated protein tau	54					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CCACTGAGGACGGATCTGAGG	0.607																																																	0								ENSG00000186868						67	62	64					17																	44049253		2203	4300	6503	MAPT	SO:0001583	missense	0			-	HGNC	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103"	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.162C>A	17.37:g.44049253C>A	ENSP00000458742:p.Asp54Glu	Somatic	0	115	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	93	21.85	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP							pfam_MAP_tubulin-bd_rpt,prints_Tau	p.D54E	ENST00000571987.1	37	c.162	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377100	0.42105	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000354326;ENST00000420682;ENST00000415613	T;T;T;T;T;T;T	0.36340	1.83;1.86;1.26;1.58;1.49;1.58;1.83	5.67	-4.82	0.03171	.	0.000000	0.45867	D	0.000328	T	0.47820	0.1466	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.997;0.995;0.996	T	0.47947	-0.9077	10	0.62326	D	0.03	-15.2846	12.7704	0.57417	0.0:0.5201:0.0:0.4799	.	54;54;54;54;54	P10636-9;P10636-7;F8WAB2;P10636-8;P10636	.;.;.;.;TAU_HUMAN	E	54	ENSP00000340820:D54E;ENSP00000262410:D54E;ENSP00000303214:D54E;ENSP00000340438:D54E;ENSP00000443028:D54E;ENSP00000413056:D54E;ENSP00000410838:D54E	ENSP00000262410:D54E	D	+	3	2	MAPT	41405089	0.225000	0.23685	0.821000	0.32701	0.702000	0.40608	-1.174000	0.03105	-1.377000	0.02123	-0.219000	0.12488	GAC	-	NULL		0.607	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	protein_coding	OTTHUMT00000440133.1	C	NM_016835	-		44049253	1	no_errors	ENST00000344290	ensembl	human	known	74_37	missense	SNP	0.951	A	A	44049253	C	A	44049253	3	1	123	1	0	0	0	0	1	0	0	0	9299	535	19	3	168	3	MAPT	17	44049253	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	4666210	44049253	37145957	78	9163											
FDXR	2232	genome.wustl.edu	37	chr17	72860089	72860089	+	Missense_Mutation	SNP	T	T	C													agtcaaagggcacgcttgggTcgacagggcggctcttatac							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:72860089T>C	ENST00000293195.5	-	10	1181	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	FDXR_ENST00000442102.2_Missense_Mutation_p.D411G|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000455107.2_Missense_Mutation_p.T351A|FDXR_ENST00000420580.2_Missense_Mutation_p.D328G|FDXR_ENST00000582944.1_Missense_Mutation_p.D360G|FDXR_ENST00000544854.1_Missense_Mutation_p.D316G|FDXR_ENST00000413947.2_Missense_Mutation_p.D399G|FDXR_ENST00000583917.1_Missense_Mutation_p.D340G|FDXR_ENST00000581530.1_Missense_Mutation_p.D374G	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	368					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CACGCTTGGGTCGACAGGGCG	0.622																																																	0								ENSG00000161513						82	81	81					17																	72860089		2203	4300	6503	FDXR	SO:0001583	missense	0			-	HGNC	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1103A>G	17.37:g.72860089T>C	ENSP00000293195:p.Asp368Gly	Somatic	0	79	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	83	16.83	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.D374G	ENST00000293195.5	37	c.1121	CCDS58593.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.49|16.49	3.137639|3.137639	0.56936|0.56936	.|.	.|.	ENSG00000161513|ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947|ENST00000455107	T;T;T;T;T|T	0.37752|0.15017	2.05;1.2;1.18;1.2;1.2|2.46	4.29|4.29	3.14|3.14	0.36123|0.36123	NAD(P)-binding domain (1);|.	0.291176|.	0.36628|.	N|.	0.002489|.	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.52905|0.52905	1.665|1.665	0.20638|0.20638	N|N	0.999879|0.999879	D;D;D;D;D;B;B;D;B;D|.	0.76494|.	0.991;0.986;0.999;0.999;0.988;0.064;0.064;0.999;0.064;0.998|.	P;P;D;D;D;B;B;D;B;D|.	0.68943|.	0.743;0.844;0.945;0.929;0.951;0.118;0.08;0.929;0.08;0.961|.	T|T	0.09840|0.09840	-1.0656|-1.0656	10|7	0.56958|0.27082	D|T	0.05|0.32	-21.7381|-21.7381	9.7628|9.7628	0.40543|0.40543	0.0:0.0:0.3316:0.6684|0.0:0.0:0.3316:0.6684	.|.	328;411;399;366;316;399;368;360;368;374|.	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2|.	.;.;.;.;.;.;.;.;ADRO_HUMAN;.|.	G|A	328;316;374;411;399|351	ENSP00000414172:D328G;ENSP00000445432:D316G;ENSP00000293195:D374G;ENSP00000416515:D411G;ENSP00000408595:D399G|ENSP00000390875:T351A	ENSP00000293195:D374G|ENSP00000390875:T351A	D|T	-|-	2|1	0|0	FDXR|FDXR	70371684|70371684	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.486000|0.486000	0.33341|0.33341	3.125000|3.125000	0.50469|0.50469	1.592000|1.592000	0.50018|0.50018	0.459000|0.459000	0.35465|0.35465	GAC|ACC	-	NULL		0.622	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	protein_coding	OTTHUMT00000444449.1	T	NM_004110	-		72860089	-1	no_errors	ENST00000581530	ensembl	human	known	74_37	missense	SNP	0.996	C	C	72860089	T	C	72860089	3	2	123	1	0	0	0	0	1	0	0	0	5809	1667	58	5	384	5	FDXR	17	72860089	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	28810836	72860089	8335121	79	9164	163	2									
FDXR	2232	genome.wustl.edu	37	chr17	72860090	72860090	+	Missense_Mutation	SNP	C	C	T													gtcaaagggcacgcttgggtCgacagggcggctcttatacc							TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr17:72860090C>T	ENST00000293195.5	-	10	1180	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	FDXR_ENST00000442102.2_Missense_Mutation_p.D411N|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000455107.2_Silent_p.S350S|FDXR_ENST00000420580.2_Missense_Mutation_p.D328N|FDXR_ENST00000582944.1_Missense_Mutation_p.D360N|FDXR_ENST00000544854.1_Missense_Mutation_p.D316N|FDXR_ENST00000413947.2_Missense_Mutation_p.D399N|FDXR_ENST00000583917.1_Missense_Mutation_p.D340N|FDXR_ENST00000581530.1_Missense_Mutation_p.D374N	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	368					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	ACGCTTGGGTCGACAGGGCGG	0.622																																																	0								ENSG00000161513						81	80	80					17																	72860090		2203	4300	6503	FDXR	SO:0001583	missense	0			-	HGNC	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1102G>A	17.37:g.72860090C>T	ENSP00000293195:p.Asp368Asn	Somatic	0	77	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	82	16.33	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.D374N	ENST00000293195.5	37	c.1120	CCDS58593.1	17	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057388	0.55325	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T;T	0.37752	1.99;1.24;1.18;1.24;1.24	4.29	3.3	0.37823	NAD(P)-binding domain (1);	0.291176	0.36628	N	0.002489	T	0.46268	0.1384	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;0.998;0.991;0.991;1.0;0.991;0.999	P;D;D;P;D;P;P;P;P;D	0.69142	0.813;0.925;0.946;0.899;0.933;0.737;0.647;0.899;0.647;0.962	T	0.43065	-0.9414	10	0.66056	D	0.02	-21.7381	7.2519	0.26154	0.1644:0.7462:0.0:0.0894	.	328;411;399;366;316;399;368;360;368;374	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	N	328;316;374;411;399	ENSP00000414172:D328N;ENSP00000445432:D316N;ENSP00000293195:D374N;ENSP00000416515:D411N;ENSP00000408595:D399N	ENSP00000293195:D374N	D	-	1	0	FDXR	70371685	1.000000	0.71417	0.946000	0.38457	0.443000	0.32047	4.474000	0.60203	1.954000	0.56735	0.561000	0.74099	GAC	-	NULL		0.622	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	protein_coding	OTTHUMT00000444449.1	C	NM_004110	-		72860090	-1	no_errors	ENST00000581530	ensembl	human	known	74_37	missense	SNP	0.976	T	T	72860090	C	T	72860090	3	4	123	1	0	0	0	0	1	0	0	0	5809	884	31	1	385	1	FDXR	17	72860090	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	1	72860090	8335120	80	9165	163	2									
CDH19	28513	genome.wustl.edu	37	chr18	64172372	64172372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccgagtcttgcgttcccGcattatggtactactcctca	7	13	2	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr18:64172372G>A	ENST00000262150.2	-	12	2288	c.1996C>T	c.(1996-1998)Cgg>Tgg	p.R666W	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGCGTTCCCGCATTATGGTA	0.458																																																	0								ENSG00000071991						192	183	186					18																	64172372		2203	4300	6503	CDH19	SO:0001583	missense	0			-	HGNC	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1996C>T	18.37:g.64172372G>A	ENSP00000262150:p.Arg666Trp	Somatic	0	53	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	48	31.43	O15098	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R666W	ENST00000262150.2	37	c.1996	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931944	0.34096	.	.	ENSG00000071991	ENST00000262150	T	0.58506	0.33	5.18	-4.1	0.03940	Cadherin, cytoplasmic domain (1);	0.302743	0.30492	N	0.009508	T	0.75162	0.3812	M	0.80982	2.52	0.24470	N	0.994391	D	0.89917	1.0	D	0.87578	0.998	T	0.75365	-0.3343	10	0.72032	D	0.01	.	21.0284	0.99944	0.0:0.0:0.2362:0.7638	.	666	Q9H159	CAD19_HUMAN	W	666	ENSP00000262150:R666W	ENSP00000262150:R666W	R	-	1	2	CDH19	62323352	0.001000	0.12720	0.032000	0.17829	0.027000	0.11550	-0.064000	0.11636	-0.642000	0.05480	-0.188000	0.12872	CGG	-	pfam_Cadherin_cytoplasmic-dom		0.458	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	protein_coding	OTTHUMT00000256219.1	G	NM_021153	-		64172372	-1	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	SNP	0.048	A	A	64172372	G	A	64172372	3	1	123	1	0	0	0	0	1	0	0	0	3106	1086	38	1	326	1	CDH19	18	64172372	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		64172372	13904876	81	9166											
SALL3	27164	genome.wustl.edu	37	chr18	76753935	76753935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcaaggcccagtttccGttcggggggctgctagactc	13	12	1	1	rs373055868		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr18:76753935G>A	ENST00000537592.2	+	2	1944	c.1944G>A	c.(1942-1944)ccG>ccA	p.P648P	SALL3_ENST00000575389.2_Silent_p.P648P|SALL3_ENST00000536229.3_Silent_p.P515P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	648					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.P648P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAGTTTCCGTTCGGGGGGC	0.652																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000256463						21	21	21					18																	76753935		2200	4296	6496	SALL3	SO:0001819	synonymous_variant	0			-	HGNC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1944G>A	18.37:g.76753935G>A		Somatic	0	38	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q9UGH1	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P648	ENST00000537592.2	37	c.1944	CCDS12013.1	18																																																																																			-	NULL		0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	G	NM_171999	-		76753935	1	no_errors	ENST00000537592	ensembl	human	known	74_37	silent	SNP	0.280	A	A	76753935	G	A	76753935	2	1	123	1	0	0	0	0	0	0	0	1	13820	1132	40	1		1	SALL3	18	76753935	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	12581563	76753935	1323313	82	9167											
STXBP2	6813	genome.wustl.edu	37	chr19	7711208	7711208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgtcccgctggacccCggtcatcaaggatgtaatgg	12	12	3	0	rs121918540		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr19:7711208C>T	ENST00000221283.5	+	16	1461	c.1430C>T	c.(1429-1431)cCg>cTg	p.P477L	STXBP2_ENST00000414284.2_Missense_Mutation_p.P474L|STXBP2_ENST00000441779.2_Missense_Mutation_p.P488L|STXBP2_ENST00000602355.1_Missense_Mutation_p.P12L	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	477			P -> L (in FHL5; leads to a complete loss of the ability to interact with STX11). {ECO:0000269|PubMed:19804848, ECO:0000269|PubMed:19884660}.		leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCTGGACCCCGGTCATCAAG	0.677																																																	0								ENSG00000076944						39	33	35					19																	7711208		2203	4299	6502	STXBP2	SO:0001583	missense	0			-	HGNC	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1430C>T	19.37:g.7711208C>T	ENSP00000221283:p.Pro477Leu	Somatic	0	170	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	217	11.07	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP							pfam_Sec1-like,superfamily_Sec1-like	p.P477L	ENST00000221283.5	37	c.1430	CCDS12181.1	19	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768383	0.69878	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	D;D;D	0.90844	-2.74;-2.74;-2.74	4.61	3.55	0.40652	.	0.135295	0.50627	D	0.000114	D	0.93779	0.8011	M	0.71581	2.175	0.80722	A	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.993;0.979;0.988	D	0.95539	0.8610	9	0.87932	D	0	-4.2608	10.9897	0.47543	0.0:0.9045:0.0:0.0955	.	488;488;474;477	E7EQD5;B4E175;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	L	477;474;488;477	ENSP00000221283:P477L;ENSP00000409471:P474L;ENSP00000413606:P488L	ENSP00000221283:P477L	P	+	2	0	STXBP2	7617208	1.000000	0.71417	0.845000	0.33349	0.435000	0.31806	5.558000	0.67319	2.143000	0.66587	0.555000	0.69702	CCG	-	pfam_Sec1-like,superfamily_Sec1-like		0.677	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	protein_coding	OTTHUMT00000460963.1	C	NM_006949	rs121918540		7711208	1	no_errors	ENST00000221283	ensembl	human	known	74_37	missense	SNP	0.993	T	T	7711208	C	T	7711208	3	4	123	1	0	0	0	0	1	0	0	0	15360	652	23	1	1492	1	STXBP2	19	7711208	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		7711208	51417775	83	9168											
MUC16	94025	genome.wustl.edu	37	chr19	9066657	9066657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggaaacagacattgatGtggaaacagttgtatgcccc	11	8	0	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr19:9066657G>T	ENST00000397910.4	-	3	20992	c.20789C>A	c.(20788-20790)aCa>aAa	p.T6930K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6932	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						AGACATTGATGTGGAAACAGT	0.468																																																	0								ENSG00000181143						282	263	269					19																	9066657		2004	4177	6181	MUC16	SO:0001583	missense	0			-	HGNC	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.20789C>A	19.37:g.9066657G>T	ENSP00000381008:p.Thr6930Lys	Somatic	0	101	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	144	13.25	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6930K	ENST00000397910.4	37	c.20789	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.973	0.180705	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.30182	1.54	2.53	0.334	0.15948	.	.	.	.	.	T	0.40171	0.1106	L	0.59436	1.845	.	.	.	D	0.58268	0.982	P	0.59825	0.864	T	0.48479	-0.9032	8	0.87932	D	0	.	4.362	0.11206	0.3468:0.0:0.6532:0.0	.	6930	B5ME49	.	K	6930	ENSP00000381008:T6930K	ENSP00000381008:T6930K	T	-	2	0	MUC16	8927657	0.006000	0.16342	0.000000	0.03702	0.007000	0.05969	0.513000	0.22770	0.149000	0.19098	0.400000	0.26472	ACA	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9066657	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9066657	G	T	9066657	3	4	123	1	0	0	0	0	1	0	0	0	9975	1377	48	3	23062	3	MUC16	19	9066657	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	1355449	9066657	50062326	84	9169											
DPY19L3	147991	genome.wustl.edu	37	chr19	32927362	32927362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatctataggttttcatggCctaatatatgataataaaac	5	5	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr19:32927362C>T	ENST00000342179.5	+	5	554	c.339C>T	c.(337-339)ggC>ggT	p.G113G	DPY19L3_ENST00000392250.2_Silent_p.G113G|DPY19L3_ENST00000586987.1_Silent_p.G113G	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	113						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GTTTTCATGGCCTAATATATG	0.289																																																	0								ENSG00000178904						43	48	46					19																	32927362		2198	4281	6479	DPY19L3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.339C>T	19.37:g.32927362C>T		Somatic	0	236	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	310	17.33	Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP							pfam_Dpy-19	p.G113	ENST00000342179.5	37	c.339	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	C	6.412	0.444160	0.12164	.	.	ENSG00000178904	ENST00000392248	.	.	.	5.87	3.71	0.42584	.	.	.	.	.	T	0.60894	0.2304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63664	-0.6586	5	0.87932	D	0	-12.2576	5.3438	0.15998	0.1835:0.5792:0.0:0.2373	.	.	.	.	V	113	.	ENSP00000376079:A113V	A	+	2	0	DPY19L3	37619202	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	1.021000	0.30040	1.495000	0.48549	-0.137000	0.14449	GCC	-	pfam_Dpy-19		0.289	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	protein_coding	OTTHUMT00000450311.1	C	NM_207325	-		32927362	1	no_errors	ENST00000342179	ensembl	human	known	74_37	silent	SNP	1.000	T	T	32927362	C	T	32927362	2	4	123	1	0	0	0	0	0	0	0	1	4744	726	26	2		2	DPY19L3	19	32927362	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	23860705	32927362	26201621	85	9170											
NLRP4	147945	genome.wustl.edu	37	chr19	56370522	56370522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaacgtggacttggtggTttctgcctactgcttaaaat	10	8	1	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr19:56370522T>C	ENST00000301295.6	+	3	2185	c.1763T>C	c.(1762-1764)gTt>gCt	p.V588A	NLRP4_ENST00000587891.1_Missense_Mutation_p.V513A|NLRP4_ENST00000346986.5_Missense_Mutation_p.V588A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	588					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGGTGGTTTCTGCCTAC	0.428																																																	0								ENSG00000160505						80	72	75					19																	56370522		2203	4300	6503	NLRP4	SO:0001583	missense	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1763T>C	19.37:g.56370522T>C	ENSP00000301295:p.Val588Ala	Somatic	0	101	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	152	12.14	Q86W87|Q96AY6	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V588A	ENST00000301295.6	37	c.1763	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451946	0.43531	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.89617	-2.54;-2.54	3.47	1.36	0.22044	.	.	.	.	.	D	0.87018	0.6073	L	0.47190	1.495	0.09310	N	1	P;D;P	0.52996	0.92;0.957;0.928	P;P;P	0.53593	0.73;0.689;0.468	T	0.75351	-0.3348	9	0.27785	T	0.31	.	5.1632	0.15071	0.0:0.251:0.0:0.749	.	588;513;588	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	A	588	ENSP00000301295:V588A;ENSP00000344787:V588A	ENSP00000301295:V588A	V	+	2	0	NLRP4	61062334	0.002000	0.14202	0.000000	0.03702	0.168000	0.22595	0.758000	0.26447	0.218000	0.20820	0.482000	0.46254	GTT	-	NULL		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	T	NM_134444	-		56370522	1	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	SNP	0.001	C	C	56370522	T	C	56370522	3	2	123	1	0	0	0	0	1	0	0	0	10481	1725	60	5	1769	5	NLRP4	19	56370522	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	23443160	56370522	2758461	86	9171											
PEG3	5178	genome.wustl.edu	37	chr19	57326959	57326959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggcagagagtgaattaCagaggtctcattgctcctat	10	7	1	3			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr19:57326959C>A	ENST00000326441.9	-	10	3214	c.2851G>T	c.(2851-2853)Gta>Tta	p.V951L	PEG3_ENST00000598410.1_Missense_Mutation_p.V827L|PEG3_ENST00000593695.1_Missense_Mutation_p.V825L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.V951L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	951					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGTGAATTACAGAGGTCTCA	0.468																																																	0								ENSG00000198300						145	139	141					19																	57326959		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2851G>T	19.37:g.57326959C>A	ENSP00000326581:p.Val951Leu	Somatic	0	97	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	99	38.12	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V951L	ENST00000326441.9	37	c.2851	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838955	0.51057	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02890	4.12;4.12	3.99	2.96	0.34315	.	0.000000	0.42548	D	0.000692	T	0.04318	0.0119	M	0.66939	2.045	.	.	.	B;P;P	0.48764	0.141;0.858;0.915	B;B;B	0.44108	0.028;0.365;0.441	T	0.16897	-1.0387	9	0.34782	T	0.22	-13.7777	5.1178	0.14845	0.2041:0.69:0.0:0.106	.	827;951;886	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	951	ENSP00000326581:V951L;ENSP00000403051:V951L	ENSP00000326581:V951L	V	-	1	0	ZIM2	62018771	0.000000	0.05858	0.957000	0.39632	0.863000	0.49368	-0.102000	0.10956	1.287000	0.44583	0.655000	0.94253	GTA	-	NULL		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57326959	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	0.566	A	A	57326959	C	A	57326959	3	1	123	1	0	0	0	0	1	0	0	0	11722	478	17	3	1919	3	PEG3	19	57326959	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	956437	57326959	1802024	87	9172											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58549273	58549273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccccgagtgagcaggaCgcagaccctgggccagcaag	13	15	0	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr19:58549273C>T	ENST00000282326.1	+	3	316	c.69C>T	c.(67-69)gaC>gaT	p.D23D	ZSCAN1_ENST00000601162.1_Silent_p.D23D|ZSCAN1_ENST00000391700.1_Silent_p.D23D	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	23					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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTGAGCAGGACGCAGACCCTG	0.697																																																	0								ENSG00000152467						10	12	11					19																	58549273		2031	4183	6214	ZSCAN1	SO:0001819	synonymous_variant	0			-	HGNC	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.69C>T	19.37:g.58549273C>T		Somatic	0	60	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q3B798|Q6WLH8|Q86WS8	Silent	SNP							pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D23	ENST00000282326.1	37	c.69	CCDS12969.1	19																																																																																			-	NULL		0.697	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	protein_coding	OTTHUMT00000466427.1	C	NM_182572	-		58549273	1	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	SNP	0.000	T	T	58549273	C	T	58549273	2	4	123	1	0	0	0	0	0	0	0	1	18233	535	19	1		1	ZSCAN1	19	58549273	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	1222314	58549273	579710	88	9173											
SEL1L2	80343	genome.wustl.edu	37	chr20	13830169	13830169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcaacaaaatcagcccagGaacaatgaggccaatcacaa	7	11	2	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr20:13830169G>A	ENST00000284951.5	-	20	2103	c.2029C>T	c.(2029-2031)Cct>Tct	p.P677S	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.P564S			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	677						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						ATCAGCCCAGGAACAATGAGG	0.478																																																	0								ENSG00000101251						155	150	152					20																	13830169		1931	4145	6076	SEL1L2	SO:0001583	missense	0			-	HGNC	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.2029C>T	20.37:g.13830169G>A	ENSP00000284951:p.Pro677Ser	Somatic	1	180	0.55		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	223	12.50	B4DXX5	Missense_Mutation	SNP							pfam_Sel1-like,smart_Sel1-like	p.P677S	ENST00000284951.5	37	c.2029		20	.	.	.	.	.	.	.	.	.	.	G	5.506	0.278424	0.10403	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.22336	1.96;2.34	5.39	3.44	0.39384	.	1.021050	0.07801	N	0.956531	T	0.11067	0.0270	N	0.08118	0	0.09310	N	0.999993	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.29761	-1.0001	10	0.21014	T	0.42	0.2041	7.9411	0.29959	0.0:0.7508:0.1612:0.088	.	564;677	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	S	564;677	ENSP00000367312:P564S;ENSP00000284951:P677S	ENSP00000284951:P677S	P	-	1	0	SEL1L2	13778169	0.222000	0.23652	0.727000	0.30756	0.067000	0.16453	0.352000	0.20113	1.290000	0.44636	-0.155000	0.13514	CCT	-	NULL		0.478	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	G	NM_025229	-		13830169	-1	no_errors	ENST00000284951	ensembl	human	known	74_37	missense	SNP	0.450	A	A	13830169	G	A	13830169	3	1	123	1	0	0	0	0	1	0	0	0	14019	1174	41	2	41	2	SEL1L2	20	13830169	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		13830169	49195351	89	9174											
MACROD2	140733	genome.wustl.edu	37	chr20	15866410	15866410	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctattttttaacagaCgataataatgaagaagaaga	6	4	0	5	rs374819973	byFrequency	TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr20:15866410C>T	ENST00000310348.4	+	10	729	c.729C>T	c.(727-729)gaC>gaT	p.D243D	MACROD2_ENST00000217246.4_Splice_Site_p.D243D|MACROD2_ENST00000378058.3_Splice_Site_p.D8D|MACROD2_ENST00000402914.1_Splice_Site_p.D8D			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	243					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.D243D(2)|p.D8D(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTTTAACAGACGATAATAATG	0.289													C|||	2	0.000399361	0.0015	0	5008	,	,		15253	0		0	False		,,,				2504	0																4	Substitution - coding silent(4)	large_intestine(4)						ENSG00000172264	C	,	2,4392	4.2+/-10.8	0,2,2195	71	85	80		24,729	4.2	1	20		80	0,8578		0,0,4289	no	coding-synonymous-near-splice,coding-synonymous-near-splice	MACROD2	NM_001033087.1,NM_080676.5	,	0,2,6484	TT,TC,CC		0.0,0.0455,0.0154	,	8/214,243/426	15866410	2,12970	2197	4289	6486	MACROD2	SO:0001630	splice_region_variant	0			-	HGNC	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.728-1C>T	20.37:g.15866410C>T		Somatic	0	104	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	120	29.41	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP							pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.D243	ENST00000310348.4	37	c.729	CCDS13120.2	20																																																																																			-	NULL		0.289	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	protein_coding		C	NM_080676	-	Silent	15866410	1	no_errors	ENST00000310348	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15866410	C	T	15866410	5	4	123	1	0	0	0	0	0	0	1	0	9148	550	19	1	767	1	MACROD2	20	15866410	Splice_Site	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	2036241	15866410	47159110	90	9175											
CSE1L	1434	genome.wustl.edu	37	chr20	47707377	47707377	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatagagcacatgcctccGtgagtatgactagaactttg	9	8	0	4			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr20:47707377G>A	ENST00000262982.2	+	20	2402		c.e20+1		CSE1L_ENST00000469700.1_Splice_Site|CSE1L_ENST00000542325.1_Splice_Site|CSE1L_ENST00000396192.3_Splice_Site	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACATGCCTCCGTGAGTATGAC	0.338																																																	0								ENSG00000124207						89	91	91					20																	47707377		2203	4300	6503	CSE1L	SO:0001630	splice_region_variant	0			-	HGNC	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2279+1G>A	20.37:g.47707377G>A		Somatic	0	102	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	87	18.69	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Splice_Site	SNP							-	e19+1	ENST00000262982.2	37	c.2279+1	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264274	0.80358	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1856	0.93642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSE1L	47140784	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.611000	0.88343	0.650000	0.86243	.	-	-		0.338	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	protein_coding	OTTHUMT00000080345.2	G	NM_001316	-	Intron	47707377	1	no_errors	ENST00000262982	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	47707377	G	A	47707377	5	1	123	1	0	0	0	0	0	0	1	0	3932	1159	40	1	2354	1	CSE1L	20	47707377	Splice_Site	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	31840967	47707377	15318143	91	9176											
SYCP2	10388	genome.wustl.edu	37	chr20	58470515	58470515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctatattatctcttctatGtcttccttctgatgatctag	5	9	6	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr20:58470515G>A	ENST00000357552.3	-	20	1867	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.H548Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	548					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTCTTCTATGTCTTCCTTCT	0.323																																																	0								ENSG00000196074						184	171	175					20																	58470515		2203	4300	6503	SYCP2	SO:0001583	missense	0			-	HGNC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1642C>T	20.37:g.58470515G>A	ENSP00000350162:p.His548Tyr	Somatic	0	107	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	106	15.87	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP							NULL	p.H548Y	ENST00000357552.3	37	c.1642	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	G	2.548	-0.304630	0.05495	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.17054	2.57;2.57;2.3	4.71	0.97	0.19692	.	1.413040	0.04063	N	0.306758	T	0.11750	0.0286	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.22601	0.04	T	0.34750	-0.9816	10	0.52906	T	0.07	-0.1464	5.6449	0.17584	0.1601:0.0:0.3624:0.4775	.	548	Q9BX26	SYCP2_HUMAN	Y	548	ENSP00000360040:H548Y;ENSP00000350162:H548Y;ENSP00000402456:H548Y	ENSP00000350162:H548Y	H	-	1	0	SYCP2	57903910	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.242000	0.18087	0.034000	0.15491	-0.485000	0.04761	CAT	-	NULL		0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	G	NM_014258	-		58470515	-1	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58470515	G	A	58470515	3	1	123	1	0	0	0	0	1	0	0	0	15439	1377	48	2	3054	2	SYCP2	20	58470515	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	10763138	58470515	4555005	92	9177											
MX1	4599	genome.wustl.edu	37	chr21	42808961	42808961	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatcgtgaccagatgcccGctggtgctgaaactgaagaa	14	9	0	5	rs139708669		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr21:42808961G>T	ENST00000398600.2	+	9	1343	c.318G>T	c.(316-318)ccG>ccT	p.P106P	MX1_ENST00000455164.2_Silent_p.P106P|MX1_ENST00000288383.6_Silent_p.P83P|MX1_ENST00000398598.3_Silent_p.P106P	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	106	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CCAGATGCCCGCTGGTGCTGA	0.502																																																	0								ENSG00000157601						95	84	88					21																	42808961		2203	4300	6503	MX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.318G>T	21.37:g.42808961G>T		Somatic	0	157	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	108	11.48	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.P106	ENST00000398600.2	37	c.318	CCDS13673.1	21																																																																																			-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF		0.502	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	protein_coding	OTTHUMT00000195161.2	G		-		42808961	1	no_errors	ENST00000398598	ensembl	human	known	74_37	silent	SNP	0.911	T	T	42808961	G	T	42808961	2	4	123	1	0	0	0	0	0	0	0	1	9999	1074	38	3		3	MX1	21	42808961	Silent	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09		42808961	5320934	93	9178											
SEZ6L	23544	genome.wustl.edu	37	chr22	26736438	26736438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacatcttgaccatctaCgatggcgacgaggtcatgcc	11	11	3	2	rs138699202		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chr22:26736438C>T	ENST00000248933.6	+	10	2147	c.2052C>T	c.(2050-2052)taC>taT	p.Y684Y	SEZ6L_ENST00000403121.1_Silent_p.Y457Y|SEZ6L_ENST00000404234.3_Silent_p.Y684Y|SEZ6L_ENST00000402979.1_Silent_p.Y457Y|SEZ6L_ENST00000343706.4_Silent_p.Y684Y|SEZ6L_ENST00000529632.2_Silent_p.Y684Y|SEZ6L_ENST00000360929.3_Silent_p.Y684Y			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	684	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGACCATCTACGATGGCGACG	0.517																																																	0								ENSG00000100095	C	,,,,,	0,4406		0,0,2203	158	148	152		2052,2052,2052,2052,2052,2052	-5.5	0.2	22	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	684/1024,684/1014,684/1012,684/950,684/949,684/1025	26736438	1,13005	2203	4300	6503	SEZ6L	SO:0001819	synonymous_variant	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2052C>T	22.37:g.26736438C>T		Somatic	0	95	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	74	21.28	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Y684	ENST00000248933.6	37	c.2052	CCDS13833.1	22																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.517	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		rs138699202		26736438	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	SNP	0.111	T	T	26736438	C	T	26736438	2	4	123	1	0	0	0	0	0	0	0	1	14151	547	19	1		1	SEZ6L	22	26736438	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		26736438	24568128	94	9179											
EGFL6	25975	genome.wustl.edu	37	chrX	13626473	13626473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtactatggatagccataCgtgcagccaccatgccaatt	8	11	0	0	rs199623111		TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chrX:13626473C>T	ENST00000361306.1	+	7	943	c.686C>T	c.(685-687)aCg>aTg	p.T229M	EGFL6_ENST00000380602.3_Missense_Mutation_p.T229M	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	229	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GATAGCCATACGTGCAGCCAC	0.428																																																	0								ENSG00000198759	C	MET/THR,MET/THR	0,3835		0,0,1632,571	191	153	166		686,686	2	0	X		166	1,6727		0,1,2427,1872	yes	missense,missense	EGFL6	NM_015507.3,NM_001167890.1	81,81	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	229/554,229/555	13626473	1,10562	2203	4300	6503	EGFL6	SO:0001583	missense	0			-	HGNC	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.686C>T	X.37:g.13626473C>T	ENSP00000355126:p.Thr229Met	Somatic	0	98	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	181	15.02	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP							pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.T229M	ENST00000361306.1	37	c.686	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	C	4.605	0.112444	0.08831	0.0	1.49E-4	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.87809	-2.3;-2.3	5.18	2.01	0.26516	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.556047	0.20686	N	0.087549	T	0.69468	0.3114	N	0.17564	0.495	0.09310	N	0.999998	B;B	0.31655	0.281;0.334	B;B	0.24541	0.039;0.054	T	0.59830	-0.7380	10	0.45353	T	0.12	.	1.0998	0.01681	0.4205:0.2624:0.1258:0.1913	.	229;229	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	M	229	ENSP00000355126:T229M;ENSP00000369976:T229M	ENSP00000355126:T229M	T	+	2	0	EGFL6	13536394	0.784000	0.28713	0.006000	0.13384	0.035000	0.12851	1.407000	0.34657	0.382000	0.24878	-0.230000	0.12252	ACG	-	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.428	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	protein_coding	OTTHUMT00000055800.1	C	NM_015507	rs199623111		13626473	1	no_errors	ENST00000380602	ensembl	human	known	74_37	missense	SNP	0.461	T	T	13626473	C	T	13626473	3	4	123	1	0	0	0	0	1	0	0	0	4965	536	19	1	712	1	EGFL6	23	13626473	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09		13626473	141644087	95	9180											
PIM2	11040	genome.wustl.edu	37	chrX	48771549	48771549	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtttgggggccaggcaCcggcggattagggcacagca	18	9	0	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chrX:48771549C>A	ENST00000376509.4	-	6	984	c.795G>T	c.(793-795)cgG>cgT	p.R265R	SLC35A2_ENST00000376521.1_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000452555.2_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000376515.3_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GGGCCAGGCACCGGCGGATTA	0.587																																																	0								ENSG00000102096						30	31	30					X																	48771549		2201	4298	6499	PIM2	SO:0001819	synonymous_variant	0			-	HGNC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.795G>T	X.37:g.48771549C>A		Somatic	0	103	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	146	26.26	A8K4G6|Q99739	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R265	ENST00000376509.4	37	c.795	CCDS14312.1	X																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.587	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	protein_coding	OTTHUMT00000060805.1	C		-		48771549	-1	no_errors	ENST00000376509	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48771549	C	A	48771549	2	1	123	1	0	0	0	0	0	0	0	1	11930	494	18	3		3	PIM2	23	48771549	Silent	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	35145076	48771549	106499011	96	9181											
SLC16A2	6567	genome.wustl.edu	37	chrX	73641840	73641840	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catccataactctgtcgggaTcctctactccatgctgctag	7	14	2	0			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chrX:73641840T>A	ENST00000587091.1	+	1	545	c.368T>A	c.(367-369)aTc>aAc	p.I123N	SLC16A2_ENST00000276033.5_Missense_Mutation_p.I197N	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	123					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTGTCGGGATCCTCTACTCC	0.592																																																	0								ENSG00000147100						32	34	33					X																	73641840		2203	4299	6502	SLC16A2	SO:0001583	missense	0			-	HGNC		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.368T>A	X.37:g.73641840T>A	ENSP00000465734:p.Ile123Asn	Somatic	0	207	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	344	19.63	Q7Z797	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I197N	ENST00000587091.1	37	c.590	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039857	0.75732	.	.	ENSG00000147100	ENST00000276033	T	0.60672	0.17	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.65975	2.015	0.53005	D	0.999965	D	0.67145	0.996	D	0.70487	0.969	T	0.73639	-0.3919	10	0.87932	D	0	.	10.3801	0.44106	0.0:0.0:0.0:1.0	.	123	P36021	MOT8_HUMAN	N	197	ENSP00000276033:I197N	ENSP00000276033:I197N	I	+	2	0	SLC16A2	73558565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.753000	0.74904	1.569000	0.49696	0.486000	0.48141	ATC	-	superfamily_MFS_dom_general_subst_transpt		0.592	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	protein_coding	OTTHUMT00000057266.3	T		-		73641840	1	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73641840	T	A	73641840	3	1	123	1	0	0	0	0	1	0	0	0	14416	1435	50	5	592	5	SLC16A2	23	73641840	Missense_Mutation	SNP	T	TCGA-DX-AB2V-01A-11D-A417-09	24870291	73641840	81628720	97	9182											
ZDHHC15	158866	genome.wustl.edu	37	chrX	74649796	74649796	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacataccaagggcagtgatGatccatttttaacacacacc	7	11	0	2			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chrX:74649796G>A	ENST00000373367.3	-	6	699	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.H157Y|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.H148Y	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	157					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGGCAGTGATGATCCATTTTT	0.388																																																	0								ENSG00000102383						161	120	134					X																	74649796		2203	4300	6503	ZDHHC15	SO:0001583	missense	0			-	HGNC	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.469C>T	X.37:g.74649796G>A	ENSP00000362465:p.His157Tyr	Somatic	0	160	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	275	21.81	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.H157Y	ENST00000373367.3	37	c.469	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397273	0.83120	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.38887	1.11;1.11;1.11	5.52	5.52	0.82312	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.044474	0.85682	D	0.000000	T	0.81408	0.4816	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.90318	0.4342	10	0.87932	D	0	-16.4127	17.2818	0.87130	0.0:0.0:1.0:0.0	.	148;157	B3KVG7;Q96MV8	.;ZDH15_HUMAN	Y	157;148;157	ENSP00000362465:H157Y;ENSP00000445420:H148Y;ENSP00000362459:H157Y	ENSP00000362459:H157Y	H	-	1	0	ZDHHC15	74566521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.257000	0.95545	2.293000	0.77203	0.600000	0.82982	CAT	-	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase		0.388	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	protein_coding	OTTHUMT00000057283.1	G	NM_144969	-		74649796	-1	no_errors	ENST00000373367	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74649796	G	A	74649796	3	1	123	1	0	0	0	0	1	0	0	0	17612	1290	45	2	568	2	ZDHHC15	23	74649796	Missense_Mutation	SNP	G	TCGA-DX-AB2V-01A-11D-A417-09	1007956	74649796	80620764	98	9183											
KLHL4	56062	genome.wustl.edu	37	chrX	86890736	86890736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggggcatgatgcccctgCttccaaccattgctccaggc	12	14	0	1			TCGA-DX-AB2V-01A-11D-A417-09	TCGA-DX-AB2V-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a7b2aef-6971-4bfc-a6d8-0cdce906213e	0cd670fd-cc01-4335-9b59-a21f57dd6b99	g.chrX:86890736C>A	ENST00000373119.4	+	9	2031	c.1886C>A	c.(1885-1887)gCt>gAt	p.A629D	KLHL4_ENST00000373114.4_Missense_Mutation_p.A629D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	629						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						GATGCCCCTGCTTCCAACCAT	0.408																																																	0								ENSG00000102271						94	82	86					X																	86890736		2203	4300	6503	KLHL4	SO:0001583	missense	0			-	HGNC	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.1886C>A	X.37:g.86890736C>A	ENSP00000362211:p.Ala629Asp	Somatic	0	68	0		0.569885427095318				WXS	Illumina HiSeq 2500	Phase_IV	tier1	101	23	81.45	B2RTW2|Q9Y3J5	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A629D	ENST00000373119.4	37	c.1886	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215792	0.39102	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74737	-0.87;-0.84	4.21	3.34	0.38264	Galactose oxidase, beta-propeller (1);	0.256043	0.38326	N	0.001736	T	0.73194	0.3556	N	0.19112	0.55	0.58432	D	0.999999	P;D	0.59357	0.83;0.985	D;P	0.63793	0.918;0.877	T	0.74945	-0.3491	10	0.72032	D	0.01	.	10.5444	0.45052	0.0:0.9022:0.0:0.0978	.	629;629	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	D	629	ENSP00000362211:A629D;ENSP00000362206:A629D	ENSP00000362206:A629D	A	+	2	0	KLHL4	86777392	1.000000	0.71417	0.677000	0.29947	0.015000	0.08874	4.323000	0.59221	0.912000	0.36772	0.500000	0.49745	GCT	-	pfam_Kelch_1,smart_Kelch_1		0.408	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	protein_coding	OTTHUMT00000057413.1	C		-		86890736	1	no_errors	ENST00000373114	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86890736	C	A	86890736	3	1	123	1	0	0	0	0	1	0	0	0	8393	797	28	3	1920	3	KLHL4	23	86890736	Missense_Mutation	SNP	C	TCGA-DX-AB2V-01A-11D-A417-09	12240940	86890736	68379824	99	9184											
MTHFR	4524	genome.wustl.edu	37	chr1	11854057	11854057	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggctgtgagttgatggtgagGatgccctggcggttcacccg	17	9	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:11854057G>C	ENST00000376592.1	-	8	1565	c.1437C>G	c.(1435-1437)atC>atG	p.I479M	MTHFR_ENST00000376590.3_Missense_Mutation_p.I479M|MTHFR_ENST00000376585.1_Missense_Mutation_p.I520M|MTHFR_ENST00000376583.3_Missense_Mutation_p.I520M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	479					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TGATGGTGAGGATGCCCTGGC	0.647																																																	0								ENSG00000177000						98	102	101					1																	11854057		2203	4300	6503	MTHFR	SO:0001583	missense	0			-	HGNC	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1437C>G	1.37:g.11854057G>C	ENSP00000365777:p.Ile479Met	Somatic	0	34	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	43	32.81	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP							pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.I520M	ENST00000376592.1	37	c.1560	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626983	0.66901	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.71	4.71	0.59529	.	0.162118	0.56097	D	0.000037	T	0.71187	0.3310	M	0.64997	1.995	0.49915	D	0.999834	B;P	0.43938	0.031;0.822	B;P	0.51101	0.044;0.659	T	0.74153	-0.3757	10	0.66056	D	0.02	.	10.3388	0.43864	0.09:0.0:0.91:0.0	.	479;520	P42898;Q5SNW6	MTHR_HUMAN;.	M	479;520;479;520	ENSP00000365777:I479M;ENSP00000365767:I520M;ENSP00000365775:I479M;ENSP00000365770:I520M	ENSP00000365767:I520M	I	-	3	3	MTHFR	11776644	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.535000	0.53575	2.180000	0.69256	0.462000	0.41574	ATC	-	NULL		0.647	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	protein_coding	OTTHUMT00000006538.1	G	NM_005957	-		11854057	-1	no_errors	ENST00000376583	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11854057	G	C	11854057	3	2	124	1	0	0	0	0	1	0	0	0	9933	1164	41	4	549	4	MTHFR	1	11854057	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		11854057	237396564	1	9185											
PADI2	11240	genome.wustl.edu	37	chr1	17413052	17413052	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaggctgacatggatggaGaccaggcctgagaagccctc	14	11	0	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:17413052G>T	ENST00000375486.4	-	7	861	c.798C>A	c.(796-798)gtC>gtA	p.V266V	PADI2_ENST00000375481.1_Silent_p.V266V|PADI2_ENST00000444885.2_Missense_Mutation_p.S185Y	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	266					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)			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)	CATGGATGGAGACCAGGCCTG	0.632																																																	0								ENSG00000117115						38	39	38					1																	17413052		2203	4300	6503	PADI2	SO:0001819	synonymous_variant	0			-	HGNC	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.798C>A	1.37:g.17413052G>T		Somatic	0	73	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	77	21.43	Q96DA7|Q9UPN2	Missense_Mutation	SNP							pfam_PAD_C,pfam_PAD_N,superfamily_Cupredoxin,superfamily_Prot_Arg_deaminase_cen_dom	p.S185Y	ENST00000375486.4	37	c.554	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990684	0.18966	.	.	ENSG00000117115	ENST00000444885	T	0.05925	3.37	5.08	-0.382	0.12481	.	.	.	.	.	T	0.06781	0.0173	.	.	.	0.24240	N	0.99536	B	0.19935	0.04	B	0.31016	0.123	T	0.40440	-0.9563	8	0.59425	D	0.04	-41.9573	8.3059	0.32042	0.1579:0.5167:0.3254:0.0	.	185	B4DIU3	.	Y	185	ENSP00000405894:S185Y	ENSP00000405894:S185Y	S	-	2	0	PADI2	17285639	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	0.741000	0.26202	-0.101000	0.12219	0.460000	0.39030	TCT	-	NULL		0.632	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	G		-		17413052	-1	no_errors	ENST00000444885	ensembl	human	known	74_37	missense	SNP	0.993	T	T	17413052	G	T	17413052	2	4	124	1	0	0	0	0	0	0	0	1	11380	929	33	3		3	PADI2	1	17413052	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	5558995	17413052	231837569	2	9186											
PLA2G2D	26279	genome.wustl.edu	37	chr1	20442883	20442883	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtccgcagtgacagccgtagGgccagtaggagaggatgggc	18	9	0	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:20442883G>C	ENST00000375105.3	-	2	186	c.128C>G	c.(127-129)cCc>cGc	p.P43R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	43					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)		ACAGCCGTAGGGCCAGTAGGA	0.567										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)												0								ENSG00000117215						140	119	126					1																	20442883		2203	4300	6503	PLA2G2D	SO:0001583	missense	0			-	HGNC	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.128C>G	1.37:g.20442883G>C	ENSP00000364246:p.Pro43Arg	Somatic	0	79	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	93	17.70	A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.P43R	ENST00000375105.3	37	c.128	CCDS203.1	1	.	.	.	.	.	.	.	.	.	.	G	3.820	-0.037882	0.07497	.	.	ENSG00000117215	ENST00000375105	T	0.25579	1.79	5.35	-3.52	0.04682	Phospholipase A2 (3);	1.839730	0.02303	N	0.071425	T	0.12008	0.0292	N	0.10782	0.045	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16928	-1.0386	10	0.25106	T	0.35	-1.6273	3.8483	0.08943	0.4136:0.0:0.303:0.2833	.	43	Q9UNK4	PA2GD_HUMAN	R	43	ENSP00000364246:P43R	ENSP00000364246:P43R	P	-	2	0	PLA2G2D	20315470	0.001000	0.12720	0.095000	0.20976	0.110000	0.19582	-0.374000	0.07484	-0.226000	0.09899	0.561000	0.74099	CCC	-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2		0.567	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2D	protein_coding	OTTHUMT00000007683.1	G		-		20442883	-1	no_errors	ENST00000375105	ensembl	human	known	74_37	missense	SNP	0.003	C	C	20442883	G	C	20442883	3	2	124	1	0	0	0	0	1	0	0	0	11999	1232	43	4	321	4	PLA2G2D	1	20442883	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	3029831	20442883	228807738	3	9187											
KIF17	57576	genome.wustl.edu	37	chr1	21014006	21014006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctagtaacccctgcagggGcacctcctgcggctcctctt	10	17	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:21014006G>T	ENST00000247986.2	-	8	2123	c.1813C>A	c.(1813-1815)Ccc>Acc	p.P605T	KIF17_ENST00000375044.1_Missense_Mutation_p.P505T|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.P605T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	605					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCCTGCAGGGGCACCTCCTGC	0.657																																																	0								ENSG00000117245						38	40	40					1																	21014006		2203	4300	6503	KIF17	SO:0001583	missense	0			-	HGNC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1813C>A	1.37:g.21014006G>T	ENSP00000247986:p.Pro605Thr	Somatic	0	31	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	48	14.29	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P605T	ENST00000247986.2	37	c.1813	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	G	8.876	0.950473	0.18431	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71698	-0.59;-0.45;-0.45	4.43	-2.75	0.05914	.	0.579344	0.13005	U	0.421312	T	0.55178	0.1904	L	0.36672	1.1	0.09310	N	1	B;B	0.24721	0.11;0.007	B;B	0.22601	0.04;0.007	T	0.45101	-0.9284	10	0.56958	D	0.05	.	8.5046	0.33179	0.1732:0.5736:0.2533:0.0	.	605;605	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	T	505;605;605	ENSP00000364184:P505T;ENSP00000383311:P605T;ENSP00000247986:P605T	ENSP00000247986:P605T	P	-	1	0	KIF17	20886593	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.551000	0.06027	-0.640000	0.05495	0.563000	0.77884	CCC	-	NULL		0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	protein_coding	OTTHUMT00000276995.1	G	NM_020816	-		21014006	-1	no_errors	ENST00000247986	ensembl	human	known	74_37	missense	SNP	0.000	T	T	21014006	G	T	21014006	3	4	124	1	0	0	0	0	1	0	0	0	8281	1203	42	3	1308	3	KIF17	1	21014006	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	571123	21014006	228236615	4	9188											
WDTC1	23038	genome.wustl.edu	37	chr1	27632840	27632840	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgatgatgaggacaGctctgagggccaggtgcagt	16	9	2	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:27632840G>C	ENST00000319394.3	+	16	2535	c.2000G>C	c.(1999-2001)aGc>aCc	p.S667T	WDTC1_ENST00000361771.3_Missense_Mutation_p.S666T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	667					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GATGAGGACAGCTCTGAGGGC	0.667																																																	0								ENSG00000142784						38	41	40					1																	27632840		2203	4300	6503	WDTC1	SO:0001583	missense	0			-	HGNC	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.2000G>C	1.37:g.27632840G>C	ENSP00000317971:p.Ser667Thr	Somatic	0	43	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S667T	ENST00000319394.3	37	c.2000		1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813419	0.32053	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61859	0.08;0.07	5.33	4.42	0.53409	.	0.075738	0.85682	D	0.000000	T	0.36552	0.0971	N	0.08118	0	0.58432	D	0.999999	B;B	0.31817	0.231;0.341	B;B	0.32980	0.074;0.156	T	0.18587	-1.0332	10	0.19147	T	0.46	.	13.4245	0.61018	0.0761:0.0:0.9239:0.0	.	667;666	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	T	667;666	ENSP00000317971:S667T;ENSP00000355317:S666T	ENSP00000317971:S667T	S	+	2	0	WDTC1	27505427	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.407000	0.66363	1.386000	0.46466	-0.140000	0.14226	AGC	-	NULL		0.667	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	protein_coding		G	NM_015023	-		27632840	1	no_errors	ENST00000319394	ensembl	human	known	74_37	missense	SNP	1.000	C	C	27632840	G	C	27632840	3	2	124	1	0	0	0	0	1	0	0	0	17349	971	34	4	2055	4	WDTC1	1	27632840	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	6618834	27632840	221617781	5	9189											
GLIS1	148979	genome.wustl.edu	37	chr1	53986384	53986384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggacgtgtggagctgcTgcaggaccagacactcggtc	16	10	0	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:53986384T>C	ENST00000312233.2	-	6	1690	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.Q375R(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GTGGAGCTGCTGCAGGACCAG	0.672																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000174332						29	29	29					1																	53986384		2200	4298	6498	GLIS1	SO:0001583	missense	0			-	HGNC	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1124A>G	1.37:g.53986384T>C	ENSP00000309653:p.Gln375Arg	Somatic	0	42	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	38	37.70		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q375R	ENST00000312233.2	37	c.1124	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684928	0.68157	.	.	ENSG00000174332	ENST00000312233	T	0.12255	2.7	4.89	1.06	0.20224	.	0.139161	0.32301	N	0.006288	T	0.11367	0.0277	L	0.36672	1.1	0.44660	D	0.997648	B	0.25955	0.138	B	0.34452	0.183	T	0.10683	-1.0619	10	0.56958	D	0.05	.	6.5004	0.22166	0.0:0.0812:0.2969:0.6218	.	375	Q8NBF1	GLIS1_HUMAN	R	375	ENSP00000309653:Q375R	ENSP00000309653:Q375R	Q	-	2	0	GLIS1	53758972	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.016000	0.49607	0.790000	0.33803	0.459000	0.35465	CAG	-	NULL		0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	protein_coding	OTTHUMT00000022109.1	T	NM_147193	-		53986384	-1	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53986384	T	C	53986384	3	2	124	1	0	0	0	0	1	0	0	0	6447	1580	55	5	758	5	GLIS1	1	53986384	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	26353544	53986384	195264237	6	9190											
SYT6	148281	genome.wustl.edu	37	chr1	114682308	114682308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtgctccttgaccgaCatctgcacctcagctgggat	10	12	2	2	rs543454369		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:114682308C>T	ENST00000610222.1	-	2	587	c.441G>A	c.(439-441)atG>atA	p.M147I	SYT6_ENST00000369547.1_Missense_Mutation_p.M62I|SYT6_ENST00000607941.1_Missense_Mutation_p.M62I|SYT6_ENST00000393296.1_Missense_Mutation_p.M147I|SYT6_ENST00000609117.1_Missense_Mutation_p.M62I			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	147					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CCTTGACCGACATCTGCACCT	0.617																																																	0								ENSG00000134207						107	86	93					1																	114682308		2203	4300	6503	SYT6	SO:0001583	missense	0			-	HGNC		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.441G>A	1.37:g.114682308C>T	ENSP00000476396:p.Met147Ile	Somatic	0	23	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	26	40.91	B1AMB8|B3KPK1	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.M147I	ENST00000610222.1	37	c.441		1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372178	0.61624	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.56941	0.43;0.44;0.43;0.44;1.57;0.97	5.76	5.76	0.90799	.	0.047229	0.85682	D	0.000000	T	0.37156	0.0993	L	0.44542	1.39	0.53688	D	0.999972	B	0.13145	0.007	B	0.10450	0.005	T	0.12760	-1.0535	10	0.44086	T	0.13	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	147	Q5T7P8	SYT6_HUMAN	I	62;147;62;147;62;62	ENSP00000358560:M62I;ENSP00000376974:M147I;ENSP00000358559:M62I;ENSP00000358558:M147I;ENSP00000412443:M62I;ENSP00000389266:M62I	ENSP00000358558:M147I	M	-	3	0	SYT6	114483831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.238000	0.32707	2.732000	0.93576	0.655000	0.94253	ATG	-	NULL		0.617	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	protein_coding	OTTHUMT00000314819.2	C	NM_205848	-		114682308	-1	no_errors	ENST00000393296	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114682308	C	T	114682308	3	4	124	1	0	0	0	0	1	0	0	0	15485	478	17	2	1115	2	SYT6	1	114682308	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	60695924	114682308	134568313	7	9191											
FCRL6	343413	genome.wustl.edu	37	chr1	159785345	159785345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagttctatcatctgtgCggaggtgagatgcctgcagc	14	9	3	1	rs149132393	byFrequency	TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:159785345C>T	ENST00000368106.3	+	10	1200	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	FCRL6_ENST00000321935.6_Silent_p.C405C|FCRL6_ENST00000392235.3_Silent_p.C303C|FCRL6_ENST00000339348.5_Silent_p.C389C	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	400						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATCATCTGTGCGGAGGTGAGA	0.527													.|||	4	0.000798722	0	0	5008	,	,		22009	0.004		0	False		,,,				2504	0																0								ENSG00000181036	C	VAL/ALA	0,4406		0,0,2203	141	134	136		1199	2.9	0	1	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FCRL6	NM_001004310.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	400/435	159785345	2,13004	2203	4300	6503	FCRL6	SO:0001583	missense	0			-	HGNC	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1199C>T	1.37:g.159785345C>T	ENSP00000357086:p.Ala400Val	Somatic	0	18	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A400V	ENST00000368106.3	37	c.1199	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636222	0.29068	0.0	2.33E-4	ENSG00000181036	ENST00000368106	T	0.01203	5.18	3.87	2.94	0.34122	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	P	0.37141	0.584	B	0.28849	0.095	T	0.48269	-0.9050	9	0.54805	T	0.06	.	7.9397	0.29950	0.0:0.8868:0.0:0.1132	.	400	Q6DN72	FCRL6_HUMAN	V	400	ENSP00000357086:A400V	ENSP00000357086:A400V	A	+	2	0	FCRL6	158051969	0.001000	0.12720	0.001000	0.08648	0.101000	0.19017	1.330000	0.33781	1.184000	0.42957	0.491000	0.48974	GCG	-	NULL		0.527	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	protein_coding	OTTHUMT00000276853.1	C	NM_001004310	rs149132393		159785345	1	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	SNP	0.001	T	T	159785345	C	T	159785345	3	4	124	1	0	0	0	0	1	0	0	0	5801	768	27	1	1237	1	FCRL6	1	159785345	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	45103037	159785345	89465276	8	9192											
F5	2153	genome.wustl.edu	37	chr1	169529886	169529886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtgtgaggcatggaggGtcatcatgggtgggtccact	17	6	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr1:169529886G>A	ENST00000367797.3	-	4	693	c.492C>T	c.(490-492)gaC>gaT	p.D164D	F5_ENST00000546081.1_Silent_p.D27D|F5_ENST00000367796.3_Silent_p.D164D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	164	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGCATGGAGGGTCATCATGGG	0.502																																																	0								ENSG00000198734						204	178	187					1																	169529886		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.492C>T	1.37:g.169529886G>A		Somatic	0	64	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	28	56.92	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.D164	ENST00000367797.3	37	c.492	CCDS1281.1	1																																																																																			-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	G	NM_000130	-		169529886	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	1.000	A	A	169529886	G	A	169529886	2	1	124	1	0	0	0	0	0	0	0	1	5350	1252	44	2		2	F5	1	169529886	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	9744541	169529886	79720735	9	9193											
DNAH6	1768	genome.wustl.edu	37	chr2	85046471	85046471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtcctgttaccctccaAgcggtccaaagactactgga	8	14	0	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr2:85046471A>T	ENST00000237449.6	+	76	12424	c.12416A>T	c.(12415-12417)aAg>aTg	p.K4139M	DNAH6_ENST00000389394.3_Missense_Mutation_p.K4139M|TRABD2A_ENST00000479944.1_5'Flank			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	4139					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTACCCTCCAAGCGGTCCAAA	0.443																																																	0								ENSG00000115423						110	100	103					2																	85046471		692	1591	2283	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.12416A>T	2.37:g.85046471A>T	ENSP00000237449:p.Lys4139Met	Somatic	0	57	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	59	20.27	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K4139M	ENST00000237449.6	37	c.12416	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467160	0.84533	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.64260	-0.09;-0.09	5.58	5.58	0.84498	Dynein heavy chain (1);	0.529435	0.15201	N	0.275011	T	0.78679	0.4321	M	0.84585	2.705	0.80722	D	1	P	0.42556	0.783	P	0.55667	0.781	T	0.79067	-0.1955	10	0.52906	T	0.07	.	13.7073	0.62648	1.0:0.0:0.0:0.0	.	4139	Q9C0G6	DYH6_HUMAN	M	4139	ENSP00000374045:K4139M;ENSP00000237449:K4139M	ENSP00000237449:K4139M	K	+	2	0	DNAH6	84899982	0.994000	0.37717	0.998000	0.56505	0.905000	0.53344	2.897000	0.48664	2.127000	0.65507	0.533000	0.62120	AAG	-	pfam_Dynein_heavy_dom		0.443	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	A	NM_001370	-		85046471	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	0.996	T	T	85046471	A	T	85046471	3	4	124	1	0	0	0	0	1	0	0	0	4607	72	3	5	12718	5	DNAH6	2	85046471	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09		85046471	158152902	10	9194											
IL1RL2	8808	genome.wustl.edu	37	chr2	102818149	102818149	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggaagcagtacgaggTtttaaatggcatcactgtga	12	7	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr2:102818149T>A	ENST00000264257.2	+	5	749	c.623T>A	c.(622-624)gTt>gAt	p.V208D	IL1RL2_ENST00000539491.1_Missense_Mutation_p.V208D|IL1RL2_ENST00000441515.2_Missense_Mutation_p.V91D|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	208	Ig-like C2-type 2.				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						CAGTACGAGGTTTTAAATGGC	0.478																																																	0								ENSG00000115598						130	106	114					2																	102818149		2203	4300	6503	IL1RL2	SO:0001583	missense	0			-	HGNC	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.623T>A	2.37:g.102818149T>A	ENSP00000264257:p.Val208Asp	Somatic	0	54	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.V208D	ENST00000264257.2	37	c.623	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446569	0.63178	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.04917	3.83;3.53;3.83	4.56	4.56	0.56223	Immunoglobulin subtype (1);	0.514997	0.20040	N	0.100526	T	0.22437	0.0541	M	0.77313	2.365	0.24556	N	0.993998	D;D	0.65815	0.995;0.993	P;D	0.68192	0.905;0.956	T	0.02625	-1.1132	10	0.59425	D	0.04	.	10.4726	0.44646	0.0:0.0:0.0:1.0	.	91;208	A4FU63;Q9HB29	.;ILRL2_HUMAN	D	208;91;208	ENSP00000264257:V208D;ENSP00000413348:V91D;ENSP00000442184:V208D	ENSP00000264257:V208D	V	+	2	0	IL1RL2	102184581	0.042000	0.20092	0.003000	0.11579	0.196000	0.23810	3.284000	0.51708	2.046000	0.60703	0.379000	0.24179	GTT	-	smart_Ig_sub,prints_IL-1_rcpt_I/II-typ		0.478	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	protein_coding	OTTHUMT00000253290.1	T	NM_003854	-		102818149	1	no_errors	ENST00000264257	ensembl	human	known	74_37	missense	SNP	0.005	A	A	102818149	T	A	102818149	3	1	124	1	0	0	0	0	1	0	0	0	7666	1725	60	5	637	5	IL1RL2	2	102818149	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	17771678	102818149	140381224	11	9195											
LCT	3938	genome.wustl.edu	37	chr2	136567385	136567385	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttggtgaggaaaccgttCttttctatgatgctagtgaa	10	8	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr2:136567385C>A	ENST00000264162.2	-	8	2542	c.2532G>T	c.(2530-2532)aaG>aaT	p.K844N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	844	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGAAACCGTTCTTTTCTATGA	0.502																																																	0								ENSG00000115850						231	226	228					2																	136567385		2203	4300	6503	LCT	SO:0001583	missense	0			-	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2532G>T	2.37:g.136567385C>A	ENSP00000264162:p.Lys844Asn	Somatic	0	37	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	79	10.23	Q4ZG58	Missense_Mutation	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K844N	ENST00000264162.2	37	c.2532	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	0.567	-0.842745	0.02671	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.49432	0.78	5.78	3.02	0.34903	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.411149	0.28635	N	0.014647	T	0.21718	0.0523	N	0.13327	0.33	0.35379	D	0.789744	B	0.21225	0.053	B	0.22386	0.039	T	0.10847	-1.0612	10	0.10111	T	0.7	-22.9195	1.3125	0.02100	0.3393:0.3457:0.1125:0.2026	.	844	P09848	LPH_HUMAN	N	844;276	ENSP00000264162:K844N	ENSP00000264162:K844N	K	-	3	2	LCT	136283855	0.005000	0.15991	0.998000	0.56505	0.722000	0.41435	-1.142000	0.03203	0.365000	0.24400	0.563000	0.77884	AAG	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.502	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	C	NM_002299	-		136567385	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	SNP	0.977	A	A	136567385	C	A	136567385	3	1	124	1	0	0	0	0	1	0	0	0	8695	912	32	3	3291	3	LCT	2	136567385	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	33749236	136567385	106631988	12	9196											
BAZ2B	29994	genome.wustl.edu	37	chr2	160261574	160261574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaacccgagcctgttccTgcttttgaagttttctcaaa	7	11	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr2:160261574T>G	ENST00000392783.2	-	15	3224	c.2729A>C	c.(2728-2730)cAg>cCg	p.Q910P	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q874P|AC008277.1_ENST00000594921.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q876P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q810P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	910	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCCTGTTCCTGCTTTTGAAG	0.353																																																	0								ENSG00000123636						166	143	150					2																	160261574		1808	4089	5897	BAZ2B	SO:0001583	missense	0			-	HGNC	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2729A>C	2.37:g.160261574T>G	ENSP00000376534:p.Gln910Pro	Somatic	0	83	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	89	25.21	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q910P	ENST00000392783.2	37	c.2729	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880195	0.91740	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.32753	1.44;1.95;1.44;2.23	5.81	5.81	0.92471	.	0.000000	0.35320	U	0.003288	T	0.50582	0.1624	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.995;0.997;0.994;0.993	T	0.44034	-0.9354	10	0.44086	T	0.13	-7.8279	16.1581	0.81680	0.0:0.0:0.0:1.0	.	714;810;874;910	Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	P	874;910;876;810	ENSP00000376533:Q874P;ENSP00000376534:Q910P;ENSP00000348087:Q876P;ENSP00000339670:Q810P	ENSP00000339670:Q810P	Q	-	2	0	BAZ2B	159969820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.959000	0.87885	2.220000	0.72140	0.477000	0.44152	CAG	-	NULL		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	protein_coding	OTTHUMT00000255037.2	T		-		160261574	-1	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	SNP	1.000	G	G	160261574	T	G	160261574	3	3	124	1	0	0	0	0	1	0	0	0	1332	1580	55	5	3869	5	BAZ2B	2	160261574	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	23694189	160261574	82937799	13	9197											
STAT1	6772	genome.wustl.edu	37	chr2	191848465	191848465	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacgggcagagaggtcGtctaaaggatgacaaagacc	12	10	1	3	rs527393923		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr2:191848465G>A	ENST00000361099.3	-	17	1736	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	STAT1_ENST00000392323.2_Splice_Site_p.T452M|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Splice_Site_p.T450M|STAT1_ENST00000392322.3_Splice_Site_p.T450M	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	450					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAGAGAGGTCGTCTAAAGGAT	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		18041	0		0	False		,,,				2504	0																0								ENSG00000115415						72	67	69					2																	191848465		2203	4300	6503	STAT1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1348-1C>T	2.37:g.191848465G>A		Somatic	0	33	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.T450M	ENST00000361099.3	37	c.1349	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471247	0.84533	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.19	5.19	0.71726	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.186112	0.64402	D	0.000020	D	0.95701	0.8602	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.942;0.994	D	0.95603	0.8665	10	0.66056	D	0.02	-23.1049	19.2755	0.94030	0.0:0.0:1.0:0.0	.	450;450	P42224-2;P42224	.;STAT1_HUMAN	M	450;450;450;452	ENSP00000354394:T450M;ENSP00000386244:T450M;ENSP00000376136:T450M;ENSP00000376137:T452M	ENSP00000354394:T450M	T	-	2	0	STAT1	191556710	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.728000	0.84847	2.865000	0.98341	0.655000	0.94253	ACG	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.488	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	protein_coding	OTTHUMT00000255997.3	G	NM_007315	-	Missense_Mutation	191848465	-1	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	191848465	G	A	191848465	5	1	124	1	0	0	0	0	0	0	1	0	15271	1159	40	1	943	1	STAT1	2	191848465	Splice_Site	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	31586891	191848465	51350908	14	9198											
SPHKAP	80309	genome.wustl.edu	37	chr2	228882458	228882458	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccacttcattggcaaAaagattgacagaatctggga	11	8	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr2:228882458A>C	ENST00000392056.3	-	7	3158	c.3112T>G	c.(3112-3114)Ttt>Gtt	p.F1038V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.F1038V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1038						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)		TCATTGGCAAAAAGATTGACA	0.507																																																	0								ENSG00000153820						93	86	88					2																	228882458		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.3112T>G	2.37:g.228882458A>C	ENSP00000375909:p.Phe1038Val	Somatic	0	50	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.F1038V	ENST00000392056.3	37	c.3112	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744705	0.69418	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.19806	2.15;2.12	6.08	6.08	0.98989	.	0.047582	0.85682	D	0.000000	T	0.36026	0.0952	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.972;0.941;0.994	T	0.11446	-1.0587	10	0.87932	D	0	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	69;1038;1038	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1038	ENSP00000375909:F1038V;ENSP00000339886:F1038V	ENSP00000339886:F1038V	F	-	1	0	SPHKAP	228590702	1.000000	0.71417	0.928000	0.36995	0.653000	0.38743	8.534000	0.90620	2.333000	0.79357	0.533000	0.62120	TTT	-	NULL		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	A	NM_030623	-		228882458	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.997	C	C	228882458	A	C	228882458	3	2	124	1	0	0	0	0	1	0	0	0	15055	14	1	5	2014	5	SPHKAP	2	228882458	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	37033993	228882458	14316915	15	9199											
IL17RE	132014	genome.wustl.edu	37	chr3	9944676	9944676	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcctcatagtcatcgacctCtctgactctgctgggattgg	9	13	4	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:9944676C>G	ENST00000383814.3	+	1	165	c.60C>G	c.(58-60)ctC>ctG	p.L20L	IL17RE_ENST00000421412.1_Silent_p.L53L|IL17RE_ENST00000295980.3_Silent_p.L20L|IL17RE_ENST00000454190.2_Silent_p.L20L	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	20					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCATCGACCTCTCTGACTCTG	0.617																																																	0								ENSG00000163701						85	76	79					3																	9944676		2203	4300	6503	IL17RE	SO:0001819	synonymous_variant	0			-	HGNC	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.60C>G	3.37:g.9944676C>G		Somatic	0	61	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	43	51.14	B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP							pfam_SEFIR	p.L53	ENST00000383814.3	37	c.159	CCDS2589.1	3																																																																																			-	NULL		0.617	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	protein_coding	OTTHUMT00000250529.1	C	NM_153480	-		9944676	1	no_errors	ENST00000421412	ensembl	human	known	74_37	silent	SNP	0.028	G	G	9944676	C	G	9944676	2	3	124	1	0	0	0	0	0	0	0	1	7645	900	32	4		4	IL17RE	3	9944676	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		9944676	188077754	16	9200											
DLEC1	9940	genome.wustl.edu	37	chr3	38104286	38104286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attccagagtacagagccagAacagaggtatgtctttctct	9	9	2	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:38104286A>T	ENST00000308059.6	+	5	1109	c.1088A>T	c.(1087-1089)gAa>gTa	p.E363V	DLEC1_ENST00000452631.2_Missense_Mutation_p.E363V|DLEC1_ENST00000346219.3_Missense_Mutation_p.E363V|DLEC1_ENST00000469151.1_3'UTR					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACAGAGCCAGAACAGAGGTAT	0.488																																																	0								ENSG00000008226						58	56	57					3																	38104286		1862	4102	5964	DLEC1	SO:0001583	missense	0			-	HGNC	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1088A>T	3.37:g.38104286A>T	ENSP00000308597:p.Glu363Val	Somatic	0	32	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	47	40.51		Missense_Mutation	SNP							superfamily_PapD-like	p.E363V	ENST00000308059.6	37	c.1088	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680645	0.29872	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06218	3.35;3.33;3.57	4.64	-0.609	0.11608	.	0.698452	0.14330	N	0.326415	T	0.06142	0.0159	M	0.64997	1.995	0.09310	N	1	B;B;B;B	0.26602	0.083;0.134;0.154;0.134	B;B;B;B	0.23574	0.047;0.047;0.029;0.047	T	0.34700	-0.9818	10	0.30854	T	0.27	-4.2736	3.3996	0.07319	0.5585:0.0:0.2765:0.165	.	363;363;363;363	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	V	363	ENSP00000308597:E363V;ENSP00000315914:E363V;ENSP00000410427:E363V	ENSP00000308597:E363V	E	+	2	0	DLEC1	38079290	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.081000	0.14823	-0.171000	0.10797	0.533000	0.62120	GAA	-	NULL		0.488	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	protein_coding	OTTHUMT00000253745.3	A	NM_007337	-		38104286	1	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	SNP	0.000	T	T	38104286	A	T	38104286	3	4	124	1	0	0	0	0	1	0	0	0	4554	246	9	5	1106	5	DLEC1	3	38104286	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	28159610	38104286	159918144	17	9201											
SCN11A	11280	genome.wustl.edu	37	chr3	38991680	38991680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcttgggcaacttcctggaGgcctttaggtcaagctgagg	14	9	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:38991680G>T	ENST00000302328.3	-	1	372	c.174C>A	c.(172-174)gcC>gcA	p.A58A	SCN11A_ENST00000456224.3_Silent_p.A58A|SCN11A_ENST00000450244.1_Silent_p.A58A|SCN11A_ENST00000444237.2_Silent_p.A58A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	58					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTTCCTGGAGGCCTTTAGGT	0.498																																																	0								ENSG00000168356						148	148	148					3																	38991680		2203	4300	6503	SCN11A	SO:0001819	synonymous_variant	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.174C>A	3.37:g.38991680G>T		Somatic	0	52	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	68	10.53	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.A58	ENST00000302328.3	37	c.174	CCDS33737.1	3																																																																																			-	NULL		0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	G	NM_014139	-		38991680	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	SNP	0.427	T	T	38991680	G	T	38991680	2	4	124	1	0	0	0	0	0	0	0	1	13921	987	35	3		3	SCN11A	3	38991680	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	887394	38991680	159030750	18	9202											
CCDC13	152206	genome.wustl.edu	37	chr3	42774443	42774443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagattccaccagtgtgtGgcccaggctggtcacagagc	13	12	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:42774443G>T	ENST00000310232.6	-	12	1614	c.1531C>A	c.(1531-1533)Cac>Aac	p.H511N	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	511										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACCAGTGTGTGGCCCAGGCTG	0.622																																																	0								ENSG00000244607						38	30	33					3																	42774443		2170	4236	6406	CCDC13	SO:0001583	missense	0			-	HGNC	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1531C>A	3.37:g.42774443G>T	ENSP00000309836:p.His511Asn	Somatic	0	35	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39		Missense_Mutation	SNP							superfamily_Prefoldin	p.H511N	ENST00000310232.6	37	c.1531	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498593	0.64298	.	.	ENSG00000244607	ENST00000310232	T	0.12039	2.72	6.08	6.08	0.98989	.	0.170119	0.50627	D	0.000105	T	0.35128	0.0921	M	0.76574	2.34	0.36167	D	0.848534	D	0.67145	0.996	P	0.60609	0.877	T	0.21655	-1.0239	9	.	.	.	.	16.1648	0.81747	0.0:0.0:1.0:0.0	.	511	Q8IYE1	CCD13_HUMAN	N	511	ENSP00000309836:H511N	.	H	-	1	0	CCDC13	42749447	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.412000	0.66392	2.890000	0.99128	0.655000	0.94253	CAC	-	NULL		0.622	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	protein_coding	OTTHUMT00000256652.1	G	NM_144719	-		42774443	-1	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42774443	G	T	42774443	3	4	124	1	0	0	0	0	1	0	0	0	2767	1348	47	3	636	3	CCDC13	3	42774443	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	3782763	42774443	155247987	19	9203											
IMPDH2	3615	genome.wustl.edu	37	chr3	49064019	49064019	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgatcatattgatctggaaGatggaatttccctgggaaga	11	5	2	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:49064019G>C	ENST00000326739.4	-	8	882	c.843C>G	c.(841-843)atC>atG	p.I281M	RP13-131K19.6_ENST00000607245.1_RNA	NM_000884.2	NP_000875.2			IMP (inosine 5'-monophosphate) dehydrogenase 2											breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGATCTGGAAGATGGAATTTC	0.478																																																	0								ENSG00000178035						127	111	117					3																	49064019		2203	4300	6503	IMPDH2	SO:0001583	missense	0			-	HGNC		CCDS2786.1	3p21.2	2014-05-15	2010-04-29		ENSG00000178035	ENSG00000178035	1.1.1.205		6053	protein-coding gene	gene with protein product		146691				9858805, 1969416	Standard	XM_006713128		Approved		uc003cvt.3	P12268	OTTHUMG00000156771	ENST00000326739.4:c.843C>G	3.37:g.49064019G>C	ENSP00000321584:p.Ile281Met	Somatic	0	45	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	53.19		Missense_Mutation	SNP							pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	p.I281M	ENST00000326739.4	37	c.843	CCDS2786.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.848|8.848	0.943854|0.943854	0.18281|0.18281	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	T;T|.	0.78595|.	-1.18;-1.19|.	5.53|5.53	1.1|1.1	0.20463|0.20463	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45736|0.45736	0.1357|0.1357	N|N	0.25286|0.25286	0.73|0.73	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.19445|.	0.036|.	B|.	0.29176|.	0.099|.	T|T	0.17471|0.17471	-1.0368|-1.0368	10|5	0.24483|.	T|.	0.36|.	-17.7336|-17.7336	10.3799|10.3799	0.44106|0.44106	0.4321:0.0:0.5679:0.0|0.4321:0.0:0.5679:0.0	.|.	281|.	P12268|.	IMDH2_HUMAN|.	M|V	281;281;256|213	ENSP00000321584:I281M;ENSP00000403502:I256M|.	ENSP00000321584:I281M|.	I|L	-|-	3|1	3|0	IMPDH2|IMPDH2	49039023|49039023	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.393000|0.393000	0.20817|0.20817	0.279000|0.279000	0.22186|0.22186	0.591000|0.591000	0.81541|0.81541	ATC|CTT	-	pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,pirsf_IMP_DH,tigrfam_IMP_DH		0.478	IMPDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	protein_coding	OTTHUMT00000345657.1	G		-		49064019	-1	no_errors	ENST00000326739	ensembl	human	known	74_37	missense	SNP	0.998	C	C	49064019	G	C	49064019	3	2	124	1	0	0	0	0	1	0	0	0	7729	932	33	4	729	4	IMPDH2	3	49064019	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	6289576	49064019	148958411	20	9204											
STAB1	23166	genome.wustl.edu	37	chr3	52535687	52535687	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggctctatggtgtcCatgagcggctgcagacggaa	17	9	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:52535687C>A	ENST00000321725.6	+	3	325	c.249C>A	c.(247-249)tcC>tcA	p.S83S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	83					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTATGGTGTCCATGAGCGGCT	0.642																																																	0								ENSG00000010327						17	19	18					3																	52535687		2193	4289	6482	STAB1	SO:0001819	synonymous_variant	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.249C>A	3.37:g.52535687C>A		Somatic	0	55	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	38	54.76	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S83	ENST00000321725.6	37	c.249	CCDS33768.1	3																																																																																			-	NULL		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	C	NM_015136	-		52535687	1	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	SNP	0.014	A	A	52535687	C	A	52535687	2	1	124	1	0	0	0	0	0	0	0	1	15244	581	21	3		3	STAB1	3	52535687	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	3471668	52535687	145486743	21	9205											
GNL3	26354	genome.wustl.edu	37	chr3	52727821	52727821	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaactgttgatgaagaagttGatgtaagtgtgtcctccatg	11	5	0	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:52727821G>T	ENST00000418458.1	+	13	1671	c.1498G>T	c.(1498-1500)Gat>Tat	p.D500Y	GNL3_ENST00000394799.2_Missense_Mutation_p.D488Y|GLT8D1_ENST00000463827.1_5'Flank|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	500	Acidic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TGAAGAAGTTGATGTAAGTGT	0.388																																																	0								ENSG00000163938						90	100	97					3																	52727821		2200	4299	6499	GNL3	SO:0001583	missense	0			-	HGNC	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1498G>T	3.37:g.52727821G>T	ENSP00000395772:p.Asp500Tyr	Somatic	0	52	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP							pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.D500Y	ENST00000418458.1	37	c.1498	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107212	0.37145	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.30182	1.54;1.54	5.39	-1.02	0.10135	.	1.291550	0.04649	N	0.406799	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.31931	0.347	B	0.28232	0.087	T	0.31251	-0.9950	10	0.62326	D	0.03	.	9.0564	0.36408	0.5107:0.0:0.4893:0.0	.	500	Q9BVP2	GNL3_HUMAN	Y	500;488	ENSP00000395772:D500Y;ENSP00000378278:D488Y	ENSP00000378278:D488Y	D	+	1	0	GNL3	52702861	0.005000	0.15991	0.000000	0.03702	0.230000	0.25150	0.687000	0.25407	-0.174000	0.10743	0.462000	0.41574	GAT	-	NULL		0.388	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	protein_coding	OTTHUMT00000352032.1	G	NM_014366	-		52727821	1	no_errors	ENST00000418458	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52727821	G	T	52727821	3	4	124	1	0	0	0	0	1	0	0	0	6539	1290	45	3	1548	3	GNL3	3	52727821	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	192134	52727821	145294609	22	9206											
OR5H14	403273	genome.wustl.edu	37	chr3	97868995	97868995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttatactatgggcccctcGccttcatgtatatgggctct	8	12	2	0	rs148799830	byFrequency	TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:97868995G>T	ENST00000437310.1	+	1	826	c.766G>T	c.(766-768)Gcc>Tcc	p.A256S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256						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)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413																																																	0								ENSG00000236032						55	50	52					3																	97868995		2203	4298	6501	OR5H14	SO:0001583	missense	0			-	HGNC		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.766G>T	3.37:g.97868995G>T	ENSP00000401706:p.Ala256Ser	Somatic	0	47	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	B9EH15	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A256S	ENST00000437310.1	37	c.766	CCDS33798.1	3	.	.	.	.	.	.	.	.	.	.	G	3.305	-0.142089	0.06669	.	.	ENSG00000236032	ENST00000437310	T	0.37235	1.21	2.49	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.550026	0.15214	N	0.274324	T	0.14313	0.0346	N	0.04148	-0.265	0.09310	N	1	B	0.26547	0.152	B	0.34093	0.175	T	0.17471	-1.0368	10	0.56958	D	0.05	.	1.1048	0.01691	0.1767:0.4022:0.183:0.2381	.	256	A6NHG9	O5H14_HUMAN	S	256	ENSP00000401706:A256S	ENSP00000401706:A256S	A	+	1	0	OR5H14	99351685	0.000000	0.05858	0.010000	0.14722	0.042000	0.13812	-1.146000	0.03191	-0.488000	0.06726	0.195000	0.17529	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H14	protein_coding	OTTHUMT00000359112.1	G		-		97868995	1	no_errors	ENST00000437310	ensembl	human	known	74_37	missense	SNP	0.000	T	T	97868995	G	T	97868995	3	4	124	1	0	0	0	0	1	0	0	0	11162	1087	38	3	768	3	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	45141174	97868995	100153435	23	9207											
HEG1	57493	genome.wustl.edu	37	chr3	124732673	124732673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttaatataagaagttgAgctctccacaatgtctgagg	9	6	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:124732673A>C	ENST00000311127.4	-	6	1817	c.1750T>G	c.(1750-1752)Tca>Gca	p.S584A	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	584	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAAGAAGTTGAGCTCTCCACA	0.423																																																	0								ENSG00000173706						116	110	112					3																	124732673		1940	4137	6077	HEG1	SO:0001583	missense	0			-	HGNC	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1750T>G	3.37:g.124732673A>C	ENSP00000311502:p.Ser584Ala	Somatic	0	51	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.S584A	ENST00000311127.4	37	c.1750	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712619	0.48517	.	.	ENSG00000173706	ENST00000311127	D	0.92752	-3.1	5.12	2.6	0.31112	.	0.000000	0.30392	U	0.009723	D	0.90448	0.7009	M	0.62723	1.935	0.28549	N	0.911702	P;B	0.40619	0.724;0.429	B;B	0.43155	0.41;0.14	D	0.84916	0.0851	10	0.59425	D	0.04	.	10.0338	0.42116	0.6715:0.3285:0.0:0.0	.	584;584	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	A	584	ENSP00000311502:S584A	ENSP00000311502:S584A	S	-	1	0	HEG1	126215363	0.955000	0.32602	0.965000	0.40720	0.304000	0.27724	0.408000	0.21065	0.363000	0.24346	0.528000	0.53228	TCA	-	NULL		0.423	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	protein_coding	OTTHUMT00000355732.2	A	XM_087386	-		124732673	-1	no_errors	ENST00000311127	ensembl	human	known	74_37	missense	SNP	0.975	C	C	124732673	A	C	124732673	3	2	124	1	0	0	0	0	1	0	0	0	7046	304	11	5	2443	5	HEG1	3	124732673	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	26863678	124732673	73289757	24	9208											
OSBPL11	114885	genome.wustl.edu	37	chr3	125313565	125313565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgttcttgttcgggGtcaccgctgtggcctggccc	14	13	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:125313565G>T	ENST00000296220.5	-	1	369	c.80C>A	c.(79-81)aCc>aAc	p.T27N		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	27					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						cttgttCGGGGTCACCGCTGT	0.577																																																	0								ENSG00000144909						106	90	95					3																	125313565		2203	4300	6503	OSBPL11	SO:0001583	missense	0			-	HGNC	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.80C>A	3.37:g.125313565G>T	ENSP00000296220:p.Thr27Asn	Somatic	0	28	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A8K9I7	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T27N	ENST00000296220.5	37	c.80	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377928	0.42105	.	.	ENSG00000144909	ENST00000296220	T	0.17691	2.26	4.64	4.64	0.57946	.	0.984427	0.08291	N	0.968374	T	0.21631	0.0521	N	0.08118	0	0.42460	D	0.992783	D	0.57899	0.981	D	0.67231	0.95	T	0.08806	-1.0704	10	0.18710	T	0.47	-26.9774	13.1873	0.59688	0.0:0.0:1.0:0.0	.	27	Q9BXB4	OSB11_HUMAN	N	27	ENSP00000296220:T27N	ENSP00000296220:T27N	T	-	2	0	OSBPL11	126796255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.719000	0.54926	2.558000	0.86282	0.484000	0.47621	ACC	-	NULL		0.577	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	protein_coding	OTTHUMT00000356295.1	G	NM_022776	-		125313565	-1	no_errors	ENST00000296220	ensembl	human	known	74_37	missense	SNP	1.000	T	T	125313565	G	T	125313565	3	4	124	1	0	0	0	0	1	0	0	0	11278	1261	44	3	2215	3	OSBPL11	3	125313565	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	580892	125313565	72708865	25	9209											
CPNE4	131034	genome.wustl.edu	37	chr3	131300488	131300488	+	Missense_Mutation	SNP	G	G	T													cttcttggctttgtacttggGattgatgcactcccactgca							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:131300488G>T	ENST00000512055.1	-	13	2928	c.802C>A	c.(802-804)Ccc>Acc	p.P268T	CPNE4_ENST00000512332.1_Missense_Mutation_p.P286T|CPNE4_ENST00000502818.1_Missense_Mutation_p.P286T|CPNE4_ENST00000511604.1_Missense_Mutation_p.P268T|CPNE4_ENST00000429747.1_Missense_Mutation_p.P268T			Q96A23	CPNE4_HUMAN	copine IV	268						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTGTACTTGGGATTGATGCAC	0.453																																																	0								ENSG00000196353						260	212	229					3																	131300488		2203	4300	6503	CPNE4	SO:0001583	missense	0			-	HGNC	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.802C>A	3.37:g.131300488G>T	ENSP00000421705:p.Pro268Thr	Somatic	0	48	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	D3DNC5|Q8TEX1	Missense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.P286T	ENST00000512055.1	37	c.856	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661951	0.88251	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.56275	0.48;0.48;0.47;0.48;0.47	5.52	5.52	0.82312	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	M	0.84433	2.695	0.80722	D	1	P;D	0.58268	0.843;0.982	P;P	0.55615	0.544;0.78	T	0.77354	-0.2619	10	0.87932	D	0	-17.408	18.2061	0.89854	0.0:0.0:1.0:0.0	.	286;268	Q96A23-2;Q96A23	.;CPNE4_HUMAN	T	268;268;286;268;286	ENSP00000421705:P268T;ENSP00000411904:P268T;ENSP00000424853:P286T;ENSP00000423811:P268T;ENSP00000421646:P286T	ENSP00000411904:P268T	P	-	1	0	CPNE4	132783178	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.673000	0.91186	2.605000	0.88082	0.655000	0.94253	CCC	-	superfamily_C2_dom		0.453	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	protein_coding	OTTHUMT00000356583.4	G	NM_130808	-		131300488	-1	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131300488	G	T	131300488	3	4	124	1	0	0	0	0	1	0	0	0	3816	1174	41	3	903	3	CPNE4	3	131300488	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	5986923	131300488	66721942	26	9210	164	2									
CPNE4	131034	genome.wustl.edu	37	chr3	131300489	131300489	+	Missense_Mutation	SNP	A	A	T													ttcttggctttgtacttgggAttgatgcactcccactgcac							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:131300489A>T	ENST00000512055.1	-	13	2927	c.801T>A	c.(799-801)aaT>aaA	p.N267K	CPNE4_ENST00000512332.1_Missense_Mutation_p.N285K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N285K|CPNE4_ENST00000511604.1_Missense_Mutation_p.N267K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N267K			Q96A23	CPNE4_HUMAN	copine IV	267						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGTACTTGGGATTGATGCACT	0.448																																																	0								ENSG00000196353						260	213	229					3																	131300489		2203	4300	6503	CPNE4	SO:0001583	missense	0			-	HGNC	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.801T>A	3.37:g.131300489A>T	ENSP00000421705:p.Asn267Lys	Somatic	0	47	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	D3DNC5|Q8TEX1	Missense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.N285K	ENST00000512055.1	37	c.855	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905354	0.72868	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.58210	0.37;0.37;0.35;0.37;0.35	5.52	-2.95	0.05564	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.85859	2.78	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	T	0.73871	-0.3846	10	0.87932	D	0	-36.3766	13.1457	0.59461	0.581:0.0:0.419:0.0	.	285;267	Q96A23-2;Q96A23	.;CPNE4_HUMAN	K	267;267;285;267;285	ENSP00000421705:N267K;ENSP00000411904:N267K;ENSP00000424853:N285K;ENSP00000423811:N267K;ENSP00000421646:N285K	ENSP00000411904:N267K	N	-	3	2	CPNE4	132783179	0.994000	0.37717	0.980000	0.43619	0.960000	0.62799	0.225000	0.17757	-0.487000	0.06735	-0.250000	0.11733	AAT	-	superfamily_C2_dom		0.448	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	protein_coding	OTTHUMT00000356583.4	A	NM_130808	-		131300489	-1	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	SNP	0.884	T	T	131300489	A	T	131300489	3	4	124	1	0	0	0	0	1	0	0	0	3816	330	12	5	904	5	CPNE4	3	131300489	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	1	131300489	66721941	27	9211	164	2									
PLCH1	23007	genome.wustl.edu	37	chr3	155198794	155198794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaatttctggtttatcaTcactgcttggctcagtctgc	7	9	5	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:155198794T>C	ENST00000340059.7	-	23	5044	c.5045A>G	c.(5044-5046)gAt>gGt	p.D1682G	PLCH1_ENST00000460012.1_Missense_Mutation_p.D1644G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1644G|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1644G|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1682					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGTTTATCATCACTGCTTGG	0.413																																																	0								ENSG00000114805						41	48	46					3																	155198794		2203	4300	6503	PLCH1	SO:0001583	missense	0			-	HGNC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5045A>G	3.37:g.155198794T>C	ENSP00000345988:p.Asp1682Gly	Somatic	0	76	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	33	57.14	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1682G	ENST00000340059.7	37	c.5045	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840871	0.51057	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.38	5.38	0.77491	.	1.322130	0.04676	N	0.411592	T	0.24586	0.0596	L	0.38175	1.15	0.32584	N	0.528098	P;P	0.39665	0.592;0.682	B;B	0.40329	0.326;0.223	T	0.11446	-1.0587	10	0.52906	T	0.07	.	11.1175	0.48268	0.0:0.0:0.1546:0.8454	.	1644;1682	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	G	1644;1682;1644;1644	ENSP00000417502:D1644G;ENSP00000345988:D1682G;ENSP00000335469:D1644G;ENSP00000412977:D1644G	ENSP00000335469:D1644G	D	-	2	0	PLCH1	156681488	0.899000	0.30636	0.780000	0.31762	0.995000	0.86356	3.291000	0.51764	2.027000	0.59764	0.533000	0.62120	GAT	-	NULL		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	T	NM_014996	-		155198794	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	SNP	0.842	C	C	155198794	T	C	155198794	3	2	124	1	0	0	0	0	1	0	0	0	12039	1435	50	5	40	5	PLCH1	3	155198794	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	23898305	155198794	42823636	28	9212											
SLC7A14	57709	genome.wustl.edu	37	chr3	170201202	170201202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcaaccgacccaatgGccactacgaatttggcagca	9	14	0	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:170201202G>T	ENST00000231706.5	-	6	1331	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	339					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CGACCCAATGGCCACTACGAA	0.522											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000013293						110	98	102					3																	170201202		2203	4300	6503	SLC7A14	SO:0001583	missense	0			-	HGNC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1016C>A	3.37:g.170201202G>T	ENSP00000231706:p.Ala339Asp	Somatic	0	52	0	1883	0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	69	21.59	B3KV33|Q9HCF9	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom	p.A339D	ENST00000231706.5	37	c.1016	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438197	0.83885	.	.	ENSG00000013293	ENST00000231706	D	0.90676	-2.71	5.9	5.9	0.94986	Amino acid permease domain (1);	0.047134	0.85682	D	0.000000	D	0.95143	0.8426	M	0.73217	2.22	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.94934	0.8085	10	0.87932	D	0	.	20.263	0.98456	0.0:0.0:1.0:0.0	.	339	Q8TBB6	S7A14_HUMAN	D	339	ENSP00000231706:A339D	ENSP00000231706:A339D	A	-	2	0	SLC7A14	171683896	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	9.421000	0.97455	2.788000	0.95919	0.655000	0.94253	GCC	-	pfam_AA-permease/SLC12A_dom		0.522	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	G	NM_020949	-		170201202	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170201202	G	T	170201202	3	4	124	1	0	0	0	0	1	0	0	0	14704	1203	42	3	1311	3	SLC7A14	3	170201202	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	15002408	170201202	27821228	29	9213											
KLHL6	89857	genome.wustl.edu	37	chr3	183211909	183211909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgtaggtctccacattGttgattctctgtaagccgtc	11	10	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:183211909G>T	ENST00000341319.3	-	5	1343	c.1308C>A	c.(1306-1308)aaC>aaA	p.N436K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	436					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTCCACATTGTTGATTCTCT	0.448																																																	0								ENSG00000172578						254	238	243					3																	183211909		2203	4300	6503	KLHL6	SO:0001583	missense	0			-	HGNC	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1308C>A	3.37:g.183211909G>T	ENSP00000341342:p.Asn436Lys	Somatic	0	45	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	62	15.07	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.N436K	ENST00000341319.3	37	c.1308	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526525	0.44969	.	.	ENSG00000172578	ENST00000341319	T	0.80123	-1.34	5.96	3.84	0.44239	Kelch-type beta propeller (1);	0.225320	0.51477	D	0.000086	T	0.68118	0.2966	N	0.12887	0.27	0.43678	D	0.996112	B	0.33345	0.409	B	0.36030	0.216	T	0.72334	-0.4325	10	0.66056	D	0.02	.	14.1535	0.65403	0.1427:0.0:0.8573:0.0	.	436	Q8WZ60	KLHL6_HUMAN	K	436	ENSP00000341342:N436K	ENSP00000341342:N436K	N	-	3	2	KLHL6	184694603	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.153000	0.42282	1.489000	0.48450	0.655000	0.94253	AAC	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	protein_coding	OTTHUMT00000309024.1	G	NM_130446	-		183211909	-1	no_errors	ENST00000341319	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183211909	G	T	183211909	3	4	124	1	0	0	0	0	1	0	0	0	8395	1368	48	3	569	3	KLHL6	3	183211909	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	13010707	183211909	14810521	30	9214											
TNK2	10188	genome.wustl.edu	37	chr3	195609097	195609097	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccaggtagcccatgccctCagccacctgcacagcgtagc	9	18	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr3:195609097C>A	ENST00000333602.6	-	6	1329	c.712G>T	c.(712-714)Gag>Tag	p.E238*	TNK2_ENST00000428187.1_Nonsense_Mutation_p.E270*|TNK2_ENST00000316664.3_Nonsense_Mutation_p.E238*|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000392400.1_Nonsense_Mutation_p.E238*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.E301*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCCATGCCCTCAGCCACCTGC	0.617																																																	0								ENSG00000061938						103	86	92					3																	195609097		2203	4300	6503	TNK2	SO:0001587	stop_gained	0			-	HGNC	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.712G>T	3.37:g.195609097C>A	ENSP00000329425:p.Glu238*	Somatic	0	52	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q6ZMQ0|Q8N6U7|Q96H59	Nonsense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.E301*	ENST00000333602.6	37	c.901	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.757602	0.98474	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	.	.	.	4.74	4.74	0.60224	.	0.217045	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	7.3106	0.26473	0.0:0.8213:0.0:0.1787	.	.	.	.	X	238;301;270;238;238	.	ENSP00000323216:E238X	E	-	1	0	TNK2	197093494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.332000	0.43903	2.614000	0.88457	0.655000	0.94253	GAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.617	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	protein_coding	OTTHUMT00000341437.3	C	NM_005781	-		195609097	-1	no_errors	ENST00000381916	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	195609097	C	A	195609097	4	1	124	1	0	0	0	0	0	1	0	0	16325	835	29	3	2493	3	TNK2	3	195609097	Nonsense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	12397188	195609097	2413333	31	9215											
BOD1L	259282	genome.wustl.edu	37	chr4	13588085	13588096	+	In_Frame_Del	DEL	CATCTGGATTAT	CATCTGGATTAT	-													ttctattctggaatccaggaCatctggattatcatctgtaa					rs376355355|rs533887203|rs370124533		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	CATCTGGATTAT	CATCTGGATTAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr4:13588085_13588096delCATCTGGATTAT	ENST00000040738.5	-	17	8492_8503	c.8357_8368delATAATCCAGATG	c.(8356-8370)gataatccagatgtc>gtc	p.DNPD2786del		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2786						nucleus (GO:0005634)	DNA binding (GO:0003677)										GAATCCAGGACATCTGGATTATCATCTGTAAA	0.349																																																	0								ENSG00000038219																																			BOD1L1	SO:0001651	inframe_deletion	0				HGNC	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.8357_8368delATAATCCAGATG	4.37:g.13588085_13588096delCATCTGGATTAT	ENSP00000040738:p.Asp2786_Asp2789del	Somatic					0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	In_Frame_Del	DEL							NULL	p.DNPD2786in_frame_del	ENST00000040738.5	37	c.8368_8357	CCDS3411.2	4																																																																																			-	NULL		0.349	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	CATCTGGATTAT	NM_148894			13588096	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	in_frame_del	DEL	0.874:0.813:0.646:0.614:0.411:0.357:0.328:0.277:0.287:0.568:0.656:0.960	-	-	13588096	CATCTGGATTAT	-	13588085	7	5	124	1	0	1	0	1	0	0	0	0	1483	478	17	0	827	0	BOD1L	4	13588085	In_Frame_Del	DEL	CATCTGGATTAT	TCGA-DX-AB2W-01A-11D-A38Z-09		13588085	177566191	32	9216											
UGT2B15	7367	genome.wustl.edu	37	chr4	69431379	69431379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaaattcaaaatcccaatAggttcgaatgagccacattt	7	8	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr4:69431379A>T	ENST00000317746.2	-	2	826	c.784T>A	c.(784-786)Tat>Aat	p.Y262N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	262					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	AAATCCCAATAGGTTCGAATG	0.393																																					Melanoma(18;649 833 28984 37818 38500)												0								ENSG00000197888						73	73	73					4																	69431379		2084	3884	5968	UGT2B17	SO:0001583	missense	0			-	HGNC	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.784T>A	4.37:g.69431379A>T	ENSP00000320401:p.Tyr262Asn	Somatic	0	75	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	29	60.81		Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Y262N	ENST00000317746.2	37	c.784	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	a	0.940	-0.709758	0.03230	.	.	ENSG00000197888	ENST00000317746	T	0.61040	0.14	2.49	2.49	0.30216	.	0.000000	0.64402	U	0.000002	T	0.52565	0.1742	M	0.73430	2.235	0.26350	N	0.977224	.	.	.	.	.	.	T	0.47114	-0.9142	8	0.02654	T	1	.	8.5215	0.33279	1.0:0.0:0.0:0.0	.	.	.	.	N	262	ENSP00000320401:Y262N	ENSP00000320401:Y262N	Y	-	1	0	UGT2B17	69113974	1.000000	0.71417	0.668000	0.29813	0.943000	0.58893	3.978000	0.56881	1.169000	0.42739	0.329000	0.21502	TAT	-	pfam_UDP_glucos_trans		0.393	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	protein_coding	OTTHUMT00000251436.1	A	NM_001077	-		69431379	-1	no_errors	ENST00000317746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69431379	A	T	69431379	3	4	124	1	0	0	0	0	1	0	0	0	16965	420	15	5	828	5	UGT2B15	4	69431379	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	55843294	69431379	121722897	33	9217											
SHROOM3	57619	genome.wustl.edu	37	chr4	77700031	77700031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgggagctgaaggagaacCtggatcgcagggagcgagta	17	9	0	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr4:77700031C>A	ENST00000296043.6	+	11	6645	c.5692C>A	c.(5692-5694)Ctg>Atg	p.L1898M	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1898	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAGGAGAACCTGGATCGCAG	0.527																																																	0								ENSG00000138771						78	73	75					4																	77700031		2203	4300	6503	SHROOM3	SO:0001583	missense	0			-	HGNC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5692C>A	4.37:g.77700031C>A	ENSP00000296043:p.Leu1898Met	Somatic	0	58	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1898M	ENST00000296043.6	37	c.5692	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917886	0.73098	.	.	ENSG00000138771	ENST00000296043	T	0.35421	1.31	5.18	4.33	0.51752	Apx/shroom, ASD2 (2);	0.110919	0.39544	N	0.001332	T	0.61173	0.2326	M	0.79123	2.44	0.52501	D	0.999957	D	0.89917	1.0	D	0.73380	0.98	T	0.68010	-0.5522	10	0.72032	D	0.01	-10.2418	15.8956	0.79333	0.0:0.8563:0.1437:0.0	.	1898	Q8TF72	SHRM3_HUMAN	M	1898	ENSP00000296043:L1898M	ENSP00000296043:L1898M	L	+	1	2	SHROOM3	77919055	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.497000	0.60367	1.403000	0.46800	0.491000	0.48974	CTG	-	pfam_ASD2		0.527	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	C	NM_020859	-		77700031	1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77700031	C	A	77700031	3	1	124	1	0	0	0	0	1	0	0	0	14303	680	24	3	5734	3	SHROOM3	4	77700031	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	8268652	77700031	113454245	34	9218											
FRAS1	80144	genome.wustl.edu	37	chr4	79455757	79455757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatggattacaaaggaGccttttcaaaaggtgagttg	11	5	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr4:79455757G>T	ENST00000264895.6	+	71	11520	c.11080G>T	c.(11080-11082)Gcc>Tcc	p.A3694S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3690					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						TTACAAAGGAGCCTTTTCAAA	0.433																																																	0								ENSG00000138759						77	69	72					4																	79455757		1887	4116	6003	FRAS1	SO:0001583	missense	0			-	HGNC	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	ENST00000264895.6:c.11080G>T	4.37:g.79455757G>T	ENSP00000264895:p.Ala3694Ser	Somatic	0	30	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.A3694S	ENST00000264895.6	37	c.11080	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.619972|4.619972	0.87460|0.87460	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.66638|.	-0.22|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72187|0.72187	0.3429|0.3429	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.70260|0.70260	-0.4921|-0.4921	10|5	0.59425|.	D|.	0.04|.	.|.	18.5927|18.5927	0.91220|0.91220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3694|.	E9PHH6|.	.|.	S|I	3694|1922	ENSP00000264895:A3694S|.	ENSP00000264895:A3694S|.	A|S	+|+	1|2	0|0	FRAS1|FRAS1	79674781|79674781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	7.884000|7.884000	0.87274|0.87274	2.380000|2.380000	0.81148|0.81148	0.591000|0.591000	0.81541|0.81541	GCC|AGC	-	NULL		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		G		-		79455757	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79455757	G	T	79455757	3	4	124	1	0	0	0	0	1	0	0	0	6044	971	34	3	11437	3	FRAS1	4	79455757	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	1755726	79455757	111698519	35	9219											
CYFIP2	26999	genome.wustl.edu	37	chr5	156757766	156757766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtcctgttggataaaCgttttcgagctgagtgtaag	13	6	0	1	rs535692197		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr5:156757766C>T	ENST00000521420.1	+	19	2186	c.2095C>T	c.(2095-2097)Cgt>Tgt	p.R699C	CYFIP2_ENST00000318218.6_Missense_Mutation_p.R750C|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R725C|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R529C|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R725C|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R424C|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R10C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R650C					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGATAAACGTTTTCGAGC	0.438																																																	0								ENSG00000055163						170	154	159					5																	156757766		1962	4169	6131	CYFIP2	SO:0001583	missense	0			-	HGNC	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2095C>T	5.37:g.156757766C>T	ENSP00000430904:p.Arg699Cys	Somatic	0	86	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	70	26.32		Missense_Mutation	SNP							pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R750C	ENST00000521420.1	37	c.2248		5	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983561	0.93044	.	.	ENSG00000055163	ENST00000318218;ENST00000442283;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.998;0.999;1.0;1.0;0.989	P;P;D;D;D;D	0.72625	0.841;0.893;0.959;0.926;0.921;0.978	T	0.61992	-0.6948	10	0.66056	D	0.02	-12.1655	19.1128	0.93323	0.0:1.0:0.0:0.0	.	589;529;699;725;725;750	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	C	750;10;529;699;725;725;650;424	ENSP00000325817:R750C;ENSP00000390948:R10C;ENSP00000428009:R529C;ENSP00000430904:R699C;ENSP00000313567:R725C;ENSP00000366799:R725C;ENSP00000444645:R650C;ENSP00000403793:R424C	ENSP00000325817:R750C	R	+	1	0	CYFIP2	156690344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.606000	0.67641	2.516000	0.84829	0.655000	0.94253	CGT	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.438	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	C	NM_001037332	-		156757766	1	no_errors	ENST00000318218	ensembl	human	known	74_37	missense	SNP	1.000	T	T	156757766	C	T	156757766	3	4	124	1	0	0	0	0	1	0	0	0	4140	536	19	1	2247	1	CYFIP2	5	156757766	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		156757766	24157494	36	9220											
ODZ2	57451	genome.wustl.edu	37	chr5	167642246	167642246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcggggatggagggaaGgccatagatgcaaccctgat	16	9	0	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr5:167642246G>A	ENST00000518659.1	+	21	4086	c.4047G>A	c.(4045-4047)aaG>aaA	p.K1349K	TENM2_ENST00000520394.1_Silent_p.K1110K|TENM2_ENST00000403607.2_Silent_p.K1173K|TENM2_ENST00000519204.1_Silent_p.K1228K|TENM2_ENST00000545108.1_Silent_p.K1348K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1349					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)										ATGGAGGGAAGGCCATAGATG	0.552																																																	0								ENSG00000145934						94	100	98					5																	167642246		1969	4156	6125	TENM2	SO:0001819	synonymous_variant	0			-	HGNC	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.4047G>A	5.37:g.167642246G>A		Somatic	0	48	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	Q9ULU2	Silent	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.K1349	ENST00000518659.1	37	c.4047		5																																																																																			-	superfamily_ConA-like_lec_gl_sf		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679	-		167642246	1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	SNP	1.000	A	A	167642246	G	A	167642246	2	1	124	1	0	0	0	0	0	0	0	1	10837	991	35	2		2	ODZ2	5	167642246	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	10884480	167642246	13273014	37	9221											
ZNF354A	6940	genome.wustl.edu	37	chr5	178139541	178139541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttgagtgggagcttaaGgctttaccacattcattaca	10	7	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr5:178139541G>A	ENST00000335815.2	-	5	1535	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	446					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		GGGAGCTTAAGGCTTTACCAC	0.363																																																	0								ENSG00000169131						82	84	83					5																	178139541		2203	4300	6503	ZNF354A	SO:0001819	synonymous_variant	0			-	HGNC	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1338C>T	5.37:g.178139541G>A		Somatic	0	56	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q9UNJ8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A446	ENST00000335815.2	37	c.1338	CCDS4438.1	5																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354A	protein_coding	OTTHUMT00000253481.1	G	NM_005649	-		178139541	-1	no_errors	ENST00000335815	ensembl	human	known	74_37	silent	SNP	0.943	A	A	178139541	G	A	178139541	2	1	124	1	0	0	0	0	0	0	0	1	17871	987	35	2		2	ZNF354A	5	178139541	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	10497295	178139541	2775719	38	9222											
OR2Y1	134083	genome.wustl.edu	37	chr5	180166694	180166694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgacagacagcagcatagCggtcaaaggccatcaccacc	10	14	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr5:180166694C>A	ENST00000307832.2	-	1	405	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGCATAGCGGTCAAAGGC	0.607																																																	0								ENSG00000174339						77	64	68					5																	180166694		2203	4300	6503	OR2Y1	SO:0001583	missense	0			-	HGNC	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.365G>T	5.37:g.180166694C>A	ENSP00000312403:p.Arg122Leu	Somatic	0	38	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122L	ENST00000307832.2	37	c.365	CCDS34323.1	5	.	.	.	.	.	.	.	.	.	.	c	15.88	2.963119	0.53507	.	.	ENSG00000174339	ENST00000307832	T	0.77358	-1.09	4.41	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.128292	0.36134	N	0.002767	D	0.88217	0.6377	H	0.97390	3.995	0.33977	D	0.647486	P	0.50369	0.934	P	0.51415	0.669	D	0.93119	0.6523	10	0.87932	D	0	.	10.5089	0.44849	0.0:0.903:0.0:0.097	.	122	Q8NGV0	OR2Y1_HUMAN	L	122	ENSP00000312403:R122L	ENSP00000312403:R122L	R	-	2	0	OR2Y1	180099300	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	3.930000	0.56522	1.197000	0.43143	0.511000	0.50034	CGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Y1	protein_coding	OTTHUMT00000368059.2	C	XM_068682	-		180166694	-1	no_errors	ENST00000307832	ensembl	human	known	74_37	missense	SNP	1.000	A	A	180166694	C	A	180166694	3	1	124	1	0	0	0	0	1	0	0	0	11037	768	27	3	574	3	OR2Y1	5	180166694	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	2027153	180166694	748566	39	9223											
SLC39A7	7922	genome.wustl.edu	37	chr6	33170365	33170365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaggagaagcagagctcAgaggaagaagaaaaggaaac	13	6	1	5			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr6:33170365A>G	ENST00000374677.3	+	5	1201	c.828A>G	c.(826-828)tcA>tcG	p.S276S	RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Silent_p.S276S	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	276					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCAGAGCTCAGAGGAAGAAG	0.512																																																	0								ENSG00000112473						83	83	83					6																	33170365		1208	2519	3727	SLC39A7	SO:0001819	synonymous_variant	0			-	HGNC	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.828A>G	6.37:g.33170365A>G		Somatic	0	17	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP							pfam_ZIP,prints_Kininogen	p.S276	ENST00000374677.3	37	c.828	CCDS43453.1	6																																																																																			-	pfam_ZIP		0.512	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	protein_coding	OTTHUMT00000076499.2	A	NM_006979	-		33170365	1	no_errors	ENST00000374675	ensembl	human	known	74_37	silent	SNP	1.000	G	G	33170365	A	G	33170365	2	3	124	1	0	0	0	0	0	0	0	1	14631	175	7	5		5	SLC39A7	6	33170365	Silent	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09		33170365	137944702	40	9224											
KCNQ5	56479	genome.wustl.edu	37	chr6	73904739	73904739	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cacagtcaaatctcaccaagGaccgttctatgaggaaaagc	8	11	3	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr6:73904739G>C	ENST00000370398.1	+	14	2510	c.2401G>C	c.(2401-2403)Gac>Cac	p.D801H	KCNQ5_ENST00000403813.2_Missense_Mutation_p.D792H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D811H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D801H|KCNQ5_ENST00000342056.2_Missense_Mutation_p.D820H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D691H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D802H	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	801					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TCTCACCAAGGACCGTTCTAT	0.488																																					GBM(142;1375 1859 14391 23261 44706)												0								ENSG00000185760						147	118	128					6																	73904739		2203	4300	6503	KCNQ5	SO:0001583	missense	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2401G>C	6.37:g.73904739G>C	ENSP00000359425:p.Asp801His	Somatic	0	55	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D811H	ENST00000370398.1	37	c.2431	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572328	0.65765	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99519	-5.87;-5.88;-5.88;-5.88;-5.89;-5.91;-6.07	5.71	5.71	0.89125	.	0.136607	0.49916	D	0.000125	D	0.99143	0.9704	L	0.45581	1.43	0.39007	D	0.959464	D;B;D;B;B	0.76494	0.999;0.028;0.981;0.004;0.002	D;B;P;B;B	0.76071	0.987;0.018;0.687;0.01;0.003	D	0.99889	1.1130	10	0.30078	T	0.28	.	18.043	0.89324	0.0:0.0:1.0:0.0	.	691;811;820;792;801	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	H	820;820;801;801;811;802;792;691	ENSP00000345055:D820H;ENSP00000347326:D801H;ENSP00000359425:D801H;ENSP00000385501:D811H;ENSP00000347853:D802H;ENSP00000384453:D792H;ENSP00000409861:D691H	ENSP00000345055:D820H	D	+	1	0	KCNQ5	73961460	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.889000	0.63171	2.689000	0.91719	0.655000	0.94253	GAC	-	NULL		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	G	NM_019842	-		73904739	1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	SNP	1.000	C	C	73904739	G	C	73904739	3	2	124	1	0	0	0	0	1	0	0	0	8088	1174	41	4	2516	4	KCNQ5	6	73904739	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	40734374	73904739	97210328	41	9225											
C6orf165	154313	genome.wustl.edu	37	chr6	88173930	88173930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcgaaatcaccgatgagGtcaaggtgaacttaactaga	11	7	2	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr6:88173930G>T	ENST00000507897.1	+	13	1914	c.1831G>T	c.(1831-1833)Gtc>Ttc	p.V611F	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.V611F			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	611										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CACCGATGAGGTCAAGGTGAA	0.443																																																	0								ENSG00000272514						91	77	82					6																	88173930		2203	4300	6503	C6ORF165	SO:0001583	missense	0			-	Uniprot_gn	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1831G>T	6.37:g.88173930G>T	ENSP00000426769:p.Val611Phe	Somatic	0	41	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP							pfam_DUF3508	p.V611F	ENST00000507897.1	37	c.1831	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633898	0.47049	.	.	ENSG00000213204	ENST00000369562	T	0.35789	1.29	5.68	2.95	0.34219	.	0.369486	0.30940	N	0.008580	T	0.30603	0.0770	M	0.77103	2.36	0.31164	N	0.704	P	0.51653	0.947	P	0.49799	0.622	T	0.17715	-1.0360	10	0.66056	D	0.02	.	8.162	0.31204	0.3626:0.0:0.6374:0.0	.	611	Q8IYR0	CF165_HUMAN	F	611	ENSP00000358575:V611F	ENSP00000358575:V611F	V	+	1	0	C6orf165	88230649	0.985000	0.35326	0.598000	0.28837	0.494000	0.33585	1.647000	0.37260	0.763000	0.33175	0.563000	0.77884	GTC	-	NULL		0.443	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	protein_coding	OTTHUMT00000470406.1	G	NM_178823	-		88173930	1	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	SNP	0.311	T	T	88173930	G	T	88173930	3	4	124	1	0	0	0	0	1	0	0	0	2343	1261	44	3	1877	3	C6orf165	6	88173930	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	14269191	88173930	82941137	42	9226											
MAP3K5	4217	genome.wustl.edu	37	chr6	137018523	137018523	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatagattcccggaagtacTggctggtaaaaacacacaca	9	9	0	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr6:137018523T>A	ENST00000359015.4	-	5	1169	c.809A>T	c.(808-810)cAg>cTg	p.Q270L		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	270					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCGGAAGTACTGGCTGGTAAA	0.353																																																	0								ENSG00000197442						107	108	107					6																	137018523		2203	4300	6503	MAP3K5	SO:0001583	missense	0			-	HGNC	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.809A>T	6.37:g.137018523T>A	ENSP00000351908:p.Gln270Leu	Somatic	0	81	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q270L	ENST00000359015.4	37	c.809	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558344	0.65538	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.09817	2.94	5.09	5.09	0.68999	.	0.107148	0.64402	D	0.000004	T	0.19644	0.0472	L	0.54323	1.7	0.80722	D	1	B;D;B	0.69078	0.024;0.997;0.193	B;D;B	0.80764	0.05;0.994;0.081	T	0.00797	-1.1562	10	0.66056	D	0.02	.	15.1546	0.72730	0.0:0.0:0.0:1.0	.	350;115;270	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	L	270;350	ENSP00000351908:Q270L	ENSP00000351908:Q270L	Q	-	2	0	MAP3K5	137060216	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.881000	0.69706	2.029000	0.59856	0.482000	0.46254	CAG	-	NULL		0.353	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	T		-		137018523	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	SNP	1.000	A	A	137018523	T	A	137018523	3	1	124	1	0	0	0	0	1	0	0	0	9255	1580	55	5	3419	5	MAP3K5	6	137018523	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	48844593	137018523	34096544	43	9227											
UNCX	340260	genome.wustl.edu	37	chr7	1273220	1273220	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcacccgcaccaacttcacCggctggcagctggaggagct	12	16	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:1273220C>G	ENST00000316333.8	+	2	450	c.339C>G	c.(337-339)acC>acG	p.T113T		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	113					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T113T(1)		lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCAACTTCACCGGCTGGCAGC	0.687																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000164853						29	31	30					7																	1273220		2189	4289	6478	UNCX	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.339C>G	7.37:g.1273220C>G		Somatic	0	92	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	130	12.16	A4D221	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T113	ENST00000316333.8	37	c.339	CCDS34583.1	7																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.687	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	protein_coding	OTTHUMT00000324910.2	C	NM_001080461	-		1273220	1	no_errors	ENST00000316333	ensembl	human	known	74_37	silent	SNP	0.995	G	G	1273220	C	G	1273220	2	3	124	1	0	0	0	0	0	0	0	1	17005	639	23	4		4	UNCX	7	1273220	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		1273220	157865443	44	9228											
THSD7A	221981	genome.wustl.edu	37	chr7	11485924	11485924	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggatacaaatgggaatttTtacatttttccttcttttta	7	5	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:11485924T>A	ENST00000423059.4	-	13	3079	c.2828A>T	c.(2827-2829)aAa>aTa	p.K943I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	943	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGGGAATTTTTACATTTTTC	0.353										HNSCC(18;0.044)																																							0								ENSG00000005108						149	143	145					7																	11485924		1811	4080	5891	THSD7A	SO:0001583	missense	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2828A>T	7.37:g.11485924T>A	ENSP00000406482:p.Lys943Ile	Somatic	0	49	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.K943I	ENST00000423059.4	37	c.2828	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211749	0.79240	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60424	0.19	5.74	4.4	0.53042	.	0.127023	0.64402	D	0.000001	T	0.53400	0.1794	L	0.53249	1.67	0.46542	D	0.999091	B	0.26318	0.146	B	0.32090	0.14	T	0.53704	-0.8401	10	0.38643	T	0.18	.	11.6327	0.51185	0.0:0.1236:0.0:0.8764	.	943	Q9UPZ6	THS7A_HUMAN	I	943	ENSP00000406482:K943I	ENSP00000262042:K943I	K	-	2	0	THSD7A	11452449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.859000	0.48364	2.193000	0.70182	0.482000	0.46254	AAA	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.353	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	T	XM_928187.2	-		11485924	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11485924	T	A	11485924	3	1	124	1	0	0	0	0	1	0	0	0	15886	1841	64	5	2205	5	THSD7A	7	11485924	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	10212704	11485924	147652739	45	9229											
ABCB5	340273	genome.wustl.edu	37	chr7	20795117	20795117	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtggtcactcacaggctctCtgcaattcagaacgcagatt	9	11	4	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:20795117C>G	ENST00000404938.2	+	28	4296	c.3644C>G	c.(3643-3645)tCt>tGt	p.S1215C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S770C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGCTCTCTGCAATTCAG	0.453																																																	0								ENSG00000004846						110	99	103					7																	20795117		2203	4300	6503	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3644C>G	7.37:g.20795117C>G	ENSP00000384881:p.Ser1215Cys	Somatic	0	44	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S770C	ENST00000404938.2	37	c.2309	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017991	0.54576	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.68624	-0.34;-0.34	5.01	5.01	0.66863	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000025	D	0.86091	0.5850	M	0.92412	3.305	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	D	0.89320	0.3639	10	0.87932	D	0	.	17.9745	0.89123	0.0:1.0:0.0:0.0	.	1215;770	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	C	1215;770	ENSP00000384881:S1215C;ENSP00000258738:S770C	ENSP00000258738:S770C	S	+	2	0	ABCB5	20761642	1.000000	0.71417	0.990000	0.47175	0.023000	0.10783	7.168000	0.77570	2.692000	0.91855	0.650000	0.86243	TCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.453	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	C	NM_178559	-		20795117	1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	1.000	G	G	20795117	C	G	20795117	3	3	124	1	0	0	0	0	1	0	0	0	44	913	32	4	3791	4	ABCB5	7	20795117	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	9309193	20795117	138343546	46	9230											
DNAH11	8701	genome.wustl.edu	37	chr7	21628211	21628211	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagcaggttctccaaCgacttcaaatgttttggtca	10	11	3	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:21628211C>T	ENST00000409508.3	+	11	1961	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R644*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	644	Stem. {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)	p.R644*(1)		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						GGTTCTCCAACGACTTCAAAT	0.393									Kartagener syndrome																																								1	Substitution - Nonsense(1)	endometrium(1)						ENSG00000105877						112	110	111					7																	21628211		1867	4113	5980	DNAH11	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.1930C>T	7.37:g.21628211C>T	ENSP00000475939:p.Arg644*	Somatic	0	38	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q9UJ82	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R644*	ENST00000409508.3	37	c.1930		7	.	.	.	.	.	.	.	.	.	.	C	36	5.724446	0.96847	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.75	4.86	0.63082	.	0.072523	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3532	0.74405	0.1411:0.8589:0.0:0.0	.	.	.	.	X	644	.	ENSP00000330671:R644X	R	+	1	2	DNAH11	21594736	1.000000	0.71417	0.915000	0.36163	0.001000	0.01503	3.070000	0.50033	1.552000	0.49463	-0.188000	0.12872	CGA	-	pfam_Dynein_heavy_dom-1		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	C	NM_003777	-		21628211	1	no_errors	ENST00000328843	ensembl	human	known	74_37	nonsense	SNP	0.978	T	T	21628211	C	T	21628211	4	4	124	1	0	0	0	0	0	1	0	0	4601	528	19	1	1972	1	DNAH11	7	21628211	Nonsense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	833094	21628211	137510452	47	9231											
RP9	6100	genome.wustl.edu	37	chr7	33136123	33136123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttacgtccttttcatgtCgtttattgtctcgtatgatg	7	9	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:33136123C>T	ENST00000297157.3	-	5	466	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	150	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CTTTTCATGTCGTTTATTGTC	0.373																																																	0								ENSG00000164610						264	220	235					7																	33136123		2203	4300	6503	RP9	SO:0001583	missense	0			-	HGNC	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.449G>A	7.37:g.33136123C>T	ENSP00000297157:p.Arg150Gln	Somatic	0	47	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	46	41.03		Missense_Mutation	SNP							NULL	p.R150Q	ENST00000297157.3	37	c.449	CCDS5440.1	7	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991875	0.54041	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;D	0.83163	-1.58;-1.69	3.66	3.66	0.41972	.	0.120359	0.53938	D	0.000060	T	0.79251	0.4414	M	0.65498	2.005	0.38333	D	0.943846	B	0.24132	0.098	B	0.15870	0.014	T	0.77148	-0.2694	10	0.19590	T	0.45	-21.8648	14.3959	0.67010	0.0:1.0:0.0:0.0	.	150	Q8TA86	RP9_HUMAN	Q	150;116	ENSP00000297157:R150Q;ENSP00000411577:R116Q	ENSP00000297157:R150Q	R	-	2	0	RP9	33102648	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.183000	0.72002	1.980000	0.57719	0.508000	0.49915	CGA	-	NULL		0.373	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP9	protein_coding	OTTHUMT00000328914.1	C	NM_203288	-		33136123	-1	no_errors	ENST00000297157	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33136123	C	T	33136123	3	4	124	1	0	0	0	0	1	0	0	0	13543	884	31	1	224	1	RP9	7	33136123	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	11507912	33136123	126002540	48	9232											
AKAP9	10142	genome.wustl.edu	37	chr7	91694631	91694631	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgatgaccttcaaaaaCaagtgaaagctctagaaata	7	7	2	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:91694631C>T	ENST00000359028.2	+	26	6325	c.6100C>T	c.(6100-6102)Caa>Taa	p.Q2034*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2022*|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2034*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2034	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTTCAAAAACAAGTGAAAGC	0.318			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0								ENSG00000127914						79	77	78					7																	91694631		2203	4300	6503	AKAP9	SO:0001587	stop_gained	0			-	HGNC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6100C>T	7.37:g.91694631C>T	ENSP00000351922:p.Gln2034*	Somatic	0	99	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	40	46.75	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP							pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.Q2034*	ENST00000359028.2	37	c.6100		7	.	.	.	.	.	.	.	.	.	.	C	47	13.600250	0.99752	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	.	.	.	5.72	5.72	0.89469	.	0.000000	0.40385	N	0.001120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	X	2022;2034;2034;2034;237	.	ENSP00000265737:Q237X	Q	+	1	0	AKAP9	91532567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.916000	0.75776	2.857000	0.98124	0.650000	0.86243	CAA	-	NULL		0.318	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		C	NM_005751	-		91694631	1	no_errors	ENST00000359028	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	91694631	C	T	91694631	4	4	124	1	0	0	0	0	0	1	0	0	459	479	17	2	6162	2	AKAP9	7	91694631	Nonsense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	58558508	91694631	67444032	49	9233											
EPO	2056	genome.wustl.edu	37	chr7	100320681	100320681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacactttccgcaaactcttCcgagtctactccaatttcct	4	15	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:100320681C>A	ENST00000252723.2	+	5	688	c.507C>A	c.(505-507)ttC>ttA	p.F169L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	169					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAAACTCTTCCGAGTCTACT	0.562																																																	0								ENSG00000130427						121	124	123					7																	100320681		2203	4300	6503	EPO	SO:0001583	missense	0			-	HGNC	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.507C>A	7.37:g.100320681C>A	ENSP00000252723:p.Phe169Leu	Somatic	0	19	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP							pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn	p.F169L	ENST00000252723.2	37	c.507	CCDS5705.1	7	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791999	0.50102	.	.	ENSG00000130427	ENST00000252723	T	0.37915	1.17	5.27	4.37	0.52481	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.065037	0.64402	D	0.000008	T	0.32912	0.0845	L	0.49640	1.575	0.41564	D	0.988645	P;P	0.43973	0.823;0.823	B;B	0.43301	0.415;0.415	T	0.02766	-1.1113	10	0.24483	T	0.36	-20.0309	10.3495	0.43927	0.0:0.9043:0.0:0.0957	.	168;169	B7ZKK5;P01588	.;EPO_HUMAN	L	169	ENSP00000252723:F169L	ENSP00000252723:F169L	F	+	3	2	EPO	100158617	0.996000	0.38824	0.998000	0.56505	0.679000	0.39708	1.333000	0.33816	2.616000	0.88540	0.643000	0.83706	TTC	-	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn		0.562	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPO	protein_coding	OTTHUMT00000325323.1	C	NM_000799	-		100320681	1	no_errors	ENST00000252723	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100320681	C	A	100320681	3	1	124	1	0	0	0	0	1	0	0	0	5190	854	30	3	525	3	EPO	7	100320681	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	8626050	100320681	58817982	50	9234											
ZAN	7455	genome.wustl.edu	37	chr7	100350523	100350523	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccaccatccccactgAagagactaccatctccacag	4	17	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:100350523A>G	ENST00000348028.3	+	0	2960				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCCCACTGAAGAGACTACC	0.517																																																	0								ENSG00000146839						310	356	342					7																	100350523		1847	4091	5938	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350523A>G		Somatic	0	158	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	127	38.94	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.E932G	ENST00000348028.3	37	c.2795		7	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054369	0.36277	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.70164	-0.46;-0.46;-0.46	3.11	0.641	0.17759	.	.	.	.	.	T	0.72819	0.3508	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.995;0.999	D;D	0.81914	0.987;0.995	T	0.58607	-0.7607	9	0.56958	D	0.05	.	3.7894	0.08713	0.6966:0.0:0.1141:0.1893	.	932;932	F5H0T8;Q9Y493	.;ZAN_HUMAN	G	932	ENSP00000445943:E932G;ENSP00000445091:E932G;ENSP00000444427:E932G	ENSP00000423579:E932G	E	+	2	0	ZAN	100188459	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	-0.170000	0.09897	0.120000	0.18254	-0.353000	0.07706	GAA	-	NULL		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	A	NM_003386	-		100350523	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.000	G	G	100350523	A	G	100350523	1	3	124	0	1	0	0	0	0	0	0	0	17520	246	9	5		5	ZAN	7	100350523	RNA	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	29842	100350523	58788140	51	9235											
KIAA1549	57670	genome.wustl.edu	37	chr7	138566128	138566133	+	Splice_Site	DEL	AATAAC	AATAAC	-													aataatacagaaagcccaatAataaccttcctctgtgacga							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	AATAAC	AATAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:138566128_138566133delAATAAC	ENST00000422774.1	-	11	4278		c.e11+1		KIAA1549_ENST00000440172.1_Splice_Site|KIAA1549_ENST00000242365.4_Splice_Site			Q9HCM3	K1549_HUMAN	KIAA1549							integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCCCAATAATAACCTTCCTCTGT	0.505			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778																																			KIAA1549	SO:0001630	splice_region_variant	0				HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4229+1GTTATT>-	7.37:g.138566128_138566133delAATAAC		Somatic					0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Splice_Site	DEL							-	e11+1	ENST00000422774.1	37	c.4229+1_4229+1	CCDS56513.1	7																																																																																			-	-		0.505	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	AATAAC			Intron	138566133	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	splice_site_del	DEL	0.001:0.001:0.002:0.036:0.994:1.000	-	-	138566133	AATAAC	-	138566128	8	5	124	1	0	1	0	1	0	0	1	0	8246	377	13	0		0	KIAA1549	7	138566128	Splice_Site	DEL	AATAAC	TCGA-DX-AB2W-01A-11D-A38Z-09	38215605	138566128	20572535	52	9236	165	2									
KIAA1549	57670	genome.wustl.edu	37	chr7	138566134	138566134	+	Splice_Site	SNP	C	C	G													acagaaagcccaataataacCttcctctgtgacgaacattc							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:138566134C>G	ENST00000422774.1	-	11	4277	c.4229G>C	c.(4228-4230)aGa>aCa	p.R1410T	KIAA1549_ENST00000440172.1_Splice_Site_p.R1410T|KIAA1549_ENST00000242365.4_Splice_Site_p.R1360T			Q9HCM3	K1549_HUMAN	KIAA1549	1410						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAATAATAACCTTCCTCTGTG	0.507			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778						113	116	115					7																	138566134		1977	4157	6134	KIAA1549	SO:0001630	splice_region_variant	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4229+1G>C	7.37:g.138566134C>G		Somatic	0	56	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	60	11.76	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.R1410T	ENST00000422774.1	37	c.4229	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125151	0.77436	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27557	1.66;1.67;1.68	5.23	5.23	0.72850	.	0.095039	0.64402	D	0.000001	T	0.49830	0.1580	M	0.64997	1.995	0.58432	D	0.999998	D;P;D;P	0.76494	0.999;0.573;0.999;0.573	P;B;P;B	0.60012	0.867;0.23;0.791;0.23	T	0.40059	-0.9583	9	.	.	.	.	17.5362	0.87832	0.0:1.0:0.0:0.0	.	1410;194;1410;194	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	T	1410;1360;1410	ENSP00000406661:R1410T;ENSP00000242365:R1360T;ENSP00000416040:R1410T	.	R	-	2	0	KIAA1549	138216674	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.840000	0.62817	2.716000	0.92895	0.655000	0.94253	AGA	-	NULL		0.507	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	C		-	Missense_Mutation	138566134	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	1.000	G	G	138566134	C	G	138566134	5	3	124	1	0	0	0	0	0	0	1	0	8246	695	24	4	1663	4	KIAA1549	7	138566134	Splice_Site	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	6	138566134	20572529	53	9237	165	2									
REPIN1	29803	genome.wustl.edu	37	chr7	150068731	150068731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggccctggttctgcAtctgcgggcccattcagctg	14	13	3	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr7:150068731A>G	ENST00000425389.2	+	1	479	c.401A>G	c.(400-402)cAt>cGt	p.H134R	REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.H134R|REPIN1_ENST00000540729.1_Missense_Mutation_p.H134R|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000482680.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.H134R|REPIN1_ENST00000489432.2_Missense_Mutation_p.H191R|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	134					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGGTTCTGCATCTGCGGGCC	0.647																																																	0								ENSG00000214022						15	17	17					7																	150068731		2064	4190	6254	REPIN1	SO:0001583	missense	0			-	HGNC	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.401A>G	7.37:g.150068731A>G	ENSP00000388287:p.His134Arg	Somatic	0	25	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H191R	ENST00000425389.2	37	c.572	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750242	0.69533	.	.	ENSG00000214022	ENST00000519397;ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000461637;ENST00000425389	D;D;D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99975	0.9992	M	0.90425	3.115	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	D	0.95335	0.8433	9	0.87932	D	0	-12.8302	13.1489	0.59478	1.0:0.0:0.0:0.0	.	191;134	C9J3L7;Q9BWE0	.;REPI1_HUMAN	R	134;134;134;134;191;193;194;191;134	ENSP00000428562:H134R;ENSP00000445016:H134R;ENSP00000380451:H134R;ENSP00000407714:H134R;ENSP00000417291:H191R;ENSP00000419789:H193R;ENSP00000419872:H194R;ENSP00000388287:H134R	ENSP00000380451:H134R	H	+	2	0	REPIN1	149699664	0.999000	0.42202	0.993000	0.49108	0.927000	0.56198	5.552000	0.67281	1.990000	0.58119	0.379000	0.24179	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	protein_coding	OTTHUMT00000376940.1	A	NM_014374	-		150068731	1	no_errors	ENST00000489432	ensembl	human	known	74_37	missense	SNP	0.997	G	G	150068731	A	G	150068731	3	3	124	1	0	0	0	0	1	0	0	0	13235	217	8	5	578	5	REPIN1	7	150068731	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	11502597	150068731	9069932	54	9238											
CSMD1	64478	genome.wustl.edu	37	chr8	2800029	2800029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgcaaaccctgataaAattagagcaaagaaaggaac	7	6	0	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:2800029A>C	ENST00000520002.1	-	70	11058	c.10503T>G	c.(10501-10503)atT>atG	p.I3501M	CSMD1_ENST00000537824.1_Missense_Mutation_p.I3500M|CSMD1_ENST00000602723.1_Missense_Mutation_p.I3324M|CSMD1_ENST00000542608.1_Missense_Mutation_p.I3323M|CSMD1_ENST00000400186.3_Missense_Mutation_p.I3324M|CSMD1_ENST00000602557.1_Missense_Mutation_p.I3501M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3501						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)		ACCCTGATAAAATTAGAGCAA	0.438																																																	0								ENSG00000183117						48	48	48					8																	2800029		1863	4098	5961	CSMD1	SO:0001583	missense	0			-	HGNC			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.10503T>G	8.37:g.2800029A>C	ENSP00000430733:p.Ile3501Met	Somatic	0	74	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I3501M	ENST00000520002.1	37	c.10503		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.61|18.61	3.661420|3.661420	0.67700|0.67700	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.38240	.|1.15;1.43;1.46;1.15	5.67|5.67	0.149|0.149	0.14863|0.14863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49184|0.49184	0.1542|0.1542	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.883;0.999;0.998	.|P;D;D	.|0.87578	.|0.499;0.998;0.979	T|T	0.44620|0.44620	-0.9316|-0.9316	5|10	.|0.87932	.|D	.|0	.|.	4.6454|4.6454	0.12570|0.12570	0.5497:0.0:0.2583:0.192|0.5497:0.0:0.2583:0.192	.|.	.|3501;3501;3323	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	V|M	2903|3324;3501;3362;3500;3323	.|ENSP00000383047:I3324M;ENSP00000430733:I3501M;ENSP00000441462:I3500M;ENSP00000446243:I3323M	.|ENSP00000320445:I3362M	F|I	-|-	1|3	0|3	CSMD1|CSMD1	2787436|2787436	0.992000|0.992000	0.36948|0.36948	0.134000|0.134000	0.22075|0.22075	0.950000|0.950000	0.60333|0.60333	0.774000|0.774000	0.26675|0.26675	0.073000|0.073000	0.16731|0.16731	0.523000|0.523000	0.50628|0.50628	TTT|ATT	-	NULL		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	A	NM_033225	-		2800029	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.711	C	C	2800029	A	C	2800029	3	2	124	1	0	0	0	0	1	0	0	0	3946	10	1	5	202	5	CSMD1	8	2800029	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09		2800029	143563993	55	9239											
BIN3	55909	genome.wustl.edu	37	chr8	22487957	22487957	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccaagacctagtcacctTttcctgattgaaggcatcca	6	13	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:22487957T>G	ENST00000276416.6	-	5	363	c.295A>C	c.(295-297)Aag>Cag	p.K99Q	BIN3_ENST00000519513.1_Missense_Mutation_p.K45Q|BIN3_ENST00000520292.1_Missense_Mutation_p.K99Q|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.K51Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	99	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CTAGTCACCTTTTCCTGATTG	0.602																																																	0								ENSG00000147439						201	201	201					8																	22487957		2013	4168	6181	BIN3	SO:0001583	missense	0			-	HGNC		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.295A>C	8.37:g.22487957T>G	ENSP00000276416:p.Lys99Gln	Somatic	0	54	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	Q9BVG2|Q9NVY9	Missense_Mutation	SNP							pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.K99Q	ENST00000276416.6	37	c.295	CCDS47825.1	8	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581045	0.86748	.	.	ENSG00000147439	ENST00000276416;ENST00000519513;ENST00000399977;ENST00000520292	T;T;T;T	0.62941	-0.01;-0.01;-0.01;0.31	5.57	5.57	0.84162	BAR (3);	0.053539	0.64402	D	0.000001	T	0.58235	0.2108	L	0.54323	1.7	0.80722	D	1	P;P	0.39535	0.636;0.677	B;B	0.39419	0.286;0.299	T	0.57481	-0.7804	10	0.29301	T	0.29	-39.1121	13.6917	0.62550	0.0:0.0:0.0:1.0	.	99;99	Q9NQY0;Q53HW0	BIN3_HUMAN;.	Q	99;45;51;99	ENSP00000276416:K99Q;ENSP00000430423:K45Q;ENSP00000382859:K51Q;ENSP00000429660:K99Q	ENSP00000276416:K99Q	K	-	1	0	BIN3	22543902	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	7.440000	0.80464	2.121000	0.65114	0.533000	0.62120	AAG	-	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom		0.602	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	protein_coding	OTTHUMT00000375895.1	T		-		22487957	-1	no_errors	ENST00000276416	ensembl	human	known	74_37	missense	SNP	1.000	G	G	22487957	T	G	22487957	3	3	124	1	0	0	0	0	1	0	0	0	1434	1850	64	5	486	5	BIN3	8	22487957	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	19687928	22487957	123876065	56	9240											
PPP2R2A	5520	genome.wustl.edu	37	chr8	26227825	26227825	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaataagtgttgacagcctaGacttcaataagaaaatcctt	6	7	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:26227825G>C	ENST00000380737.3	+	10	1569	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.D424H	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	414					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGACAGCCTAGACTTCAATAA	0.423																																																	0								ENSG00000221914						88	87	87					8																	26227825		2203	4300	6503	PPP2R2A	SO:0001583	missense	0			-	HGNC	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1240G>C	8.37:g.26227825G>C	ENSP00000370113:p.Asp414His	Somatic	0	111	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	87	21.62	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.D414H	ENST00000380737.3	37	c.1240	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365911	0.61513	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.57273	1.59;0.41;1.59	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.81153	0.4763	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.989;0.984;0.995	D	0.85853	0.1405	10	0.87932	D	0	-18.6548	19.3941	0.94598	0.0:0.0:1.0:0.0	.	424;414;415	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	H	414;193;424	ENSP00000370113:D414H;ENSP00000430320:D193H;ENSP00000325074:D424H	ENSP00000325074:D424H	D	+	1	0	PPP2R2A	26283742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.165000	0.94761	2.885000	0.99019	0.655000	0.94253	GAC	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.423	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	G	NM_002717	-		26227825	1	no_errors	ENST00000380737	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26227825	G	C	26227825	3	2	124	1	0	0	0	0	1	0	0	0	12389	942	33	4	1319	4	PPP2R2A	8	26227825	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	3739868	26227825	120136197	57	9241											
RB1CC1	9821	genome.wustl.edu	37	chr8	53586817	53586817	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggaatcttggccattactGaaactgcagttcctaaactt	8	9	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:53586817G>T	ENST00000025008.5	-	7	1113	c.590C>A	c.(589-591)tCa>tAa	p.S197*	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.S197*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.S197*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	197					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GGCCATTACTGAAACTGCAGT	0.358																																					GBM(180;1701 2102 13475 42023 52570)												0								ENSG00000023287						117	112	114					8																	53586817		2203	4300	6503	RB1CC1	SO:0001587	stop_gained	0			-	HGNC	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.590C>A	8.37:g.53586817G>T	ENSP00000025008:p.Ser197*	Somatic	0	51	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP							pfam_Autophagy-rel_p11	p.S197*	ENST00000025008.5	37	c.590	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.741694	0.99252	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	4.93	4.93	0.64822	.	0.162902	0.41712	D	0.000821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2836	19.0389	0.92991	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000025008:S197X	S	-	2	0	RB1CC1	53749370	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.302000	0.96175	2.663000	0.90544	0.467000	0.42956	TCA	-	NULL		0.358	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	protein_coding	OTTHUMT00000378011.1	G	NM_014781	-		53586817	-1	no_errors	ENST00000025008	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	53586817	G	T	53586817	4	4	124	1	0	0	0	0	0	1	0	0	13107	1294	45	3	4266	3	RB1CC1	8	53586817	Nonsense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	27358992	53586817	92777205	58	9242											
RAB2A	5862	genome.wustl.edu	37	chr8	61504448	61504448	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctagaagagaagtaaaaaaaGaagaaggtgaagcttttgca	11	3	0	5			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:61504448G>C	ENST00000262646.7	+	6	745	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	RAB2A_ENST00000531289.1_Missense_Mutation_p.E108Q|RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	132					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGTAAAAAAAGAAGAAGGTGA	0.378																																																	0								ENSG00000104388						99	103	102					8																	61504448		2203	4300	6503	RAB2A	SO:0001583	missense	0			-	HGNC		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.394G>C	8.37:g.61504448G>C	ENSP00000262646:p.Glu132Gln	Somatic	0	97	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	107	13.01	B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E132Q	ENST00000262646.7	37	c.394	CCDS6175.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.192601|5.192601	0.94960|0.94960	.|.	.|.	ENSG00000104388|ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000543829|ENST00000452437	T;T|.	0.78246|.	-1.16;-1.16|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71600|0.71600	0.3359|0.3359	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B;B|.	0.27656|.	0.184;0.142|.	B;B|.	0.31751|.	0.135;0.087|.	T|T	0.67875|0.67875	-0.5557|-0.5557	10|5	0.72032|.	D|.	0.01|.	.|.	19.4619|19.4619	0.94921|0.94921	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	108;132|.	B4DMQ5;P61019|.	.;RAB2A_HUMAN|.	Q|T	132;108;86|42	ENSP00000262646:E132Q;ENSP00000431846:E108Q|.	ENSP00000262646:E132Q|.	E|R	+|+	1|2	0|0	RAB2A|RAB2A	61667002|61667002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.791000|9.791000	0.99081|0.99081	2.663000|2.663000	0.90544|0.90544	0.585000|0.585000	0.79938|0.79938	GAA|AGA	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	protein_coding	OTTHUMT00000259145.2	G		-		61504448	1	no_errors	ENST00000262646	ensembl	human	known	74_37	missense	SNP	1.000	C	C	61504448	G	C	61504448	3	2	124	1	0	0	0	0	1	0	0	0	12925	943	33	4	416	4	RAB2A	8	61504448	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	7917631	61504448	84859574	59	9243											
RIMS2	9699	genome.wustl.edu	37	chr8	104709430	104709430	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtatctgccacaaaaCaaagtttgctgatggatgtg	11	7	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:104709430C>G	ENST00000406091.3	+	2	293	c.293C>G	c.(292-294)aCa>aGa	p.T98R		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	129	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGCCACAAAACAAAGTTTGCT	0.438										HNSCC(12;0.0054)																																							0								ENSG00000176406						166	168	167					8																	104709430		1993	4168	6161	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.293C>G	8.37:g.104709430C>G	ENSP00000384892:p.Thr98Arg	Somatic	0	87	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	81	13.83	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T98R	ENST00000406091.3	37	c.293	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022403	0.93462	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.76448	-1.02;-1.02	5.72	5.72	0.89469	.	.	.	.	.	D	0.90872	0.7132	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92000	0.5610	9	0.87932	D	0	.	19.9379	0.97147	0.0:1.0:0.0:0.0	.	98	F8WD47	.	R	98;129;98;129	ENSP00000427018:T98R;ENSP00000384892:T98R	ENSP00000332184:T129R	T	+	2	0	RIMS2	104778606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	2.710000	0.92621	0.556000	0.70494	ACA	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel		0.438	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	protein_coding		C	NM_001100117	-		104709430	1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104709430	C	G	104709430	3	3	124	1	0	0	0	0	1	0	0	0	13376	478	17	4	299	4	RIMS2	8	104709430	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	43204982	104709430	41654592	60	9244											
TAF2	6873	genome.wustl.edu	37	chr8	120756584	120756584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatgaaggcctggctaTcatgaacagtatccatatca	10	8	2	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:120756584T>C	ENST00000378164.2	-	24	3456	c.3158A>G	c.(3157-3159)gAt>gGt	p.D1053G	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1053					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCCTGGCTATCATGAACAGT	0.388																																																	0								ENSG00000064313						165	158	161					8																	120756584		2203	4300	6503	TAF2	SO:0001583	missense	0			-	HGNC	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3158A>G	8.37:g.120756584T>C	ENSP00000367406:p.Asp1053Gly	Somatic	0	53	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP							pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.D1053G	ENST00000378164.2	37	c.3158	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211107	0.79240	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.45668	1.63;0.89	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.53830	-0.8383	10	0.52906	T	0.07	-17.2903	15.8953	0.79329	0.0:0.0:0.0:1.0	.	1053	Q6P1X5	TAF2_HUMAN	G	1053;229	ENSP00000367406:D1053G;ENSP00000436750:D229G	ENSP00000367406:D1053G	D	-	2	0	TAF2	120825765	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	7.929000	0.87595	2.163000	0.67991	0.482000	0.46254	GAT	-	NULL		0.388	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	protein_coding	OTTHUMT00000381436.1	T	NM_003184	-		120756584	-1	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	SNP	1.000	C	C	120756584	T	C	120756584	3	2	124	1	0	0	0	0	1	0	0	0	15531	1435	50	5	453	5	TAF2	8	120756584	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	16047154	120756584	25607438	61	9245											
ANXA13	312	genome.wustl.edu	37	chr8	124696849	124696849	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtcggagtgtgtcttaCctcggccctggtcacgacta	13	11	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr8:124696849C>T	ENST00000419625.1	-	10	904		c.e10+1		ANXA13_ENST00000262219.6_Splice_Site	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13						cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGTGTCTTACCTCGGCCCTG	0.478																																																	0								ENSG00000104537						150	116	127					8																	124696849		2203	4300	6503	ANXA13	SO:0001630	splice_region_variant	0			-	HGNC	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.831+1G>A	8.37:g.124696849C>T		Somatic	0	42	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	Q9BQR5	Splice_Site	SNP							-	e11+1	ENST00000419625.1	37	c.954+1	CCDS47917.1	8	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704267	0.68615	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	.	.	.	5.62	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0844	0.72138	0.1433:0.8567:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA13	124766030	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.455000	0.73497	1.489000	0.48450	0.555000	0.69702	.	-	-		0.478	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	protein_coding	OTTHUMT00000381308.1	C	NM_004306	-	Intron	124696849	-1	no_errors	ENST00000262219	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	124696849	C	T	124696849	5	4	124	1	0	0	0	0	0	0	1	0	717	521	18	2	126	2	ANXA13	8	124696849	Splice_Site	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	3940265	124696849	21667173	62	9246											
IFNA14	3448	genome.wustl.edu	37	chr9	21239675	21239675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgaagagattgaagGtctgctgcatcatctcatgg	12	7	3	3	rs145144646	byFrequency	TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:21239675G>A	ENST00000380222.2	-	1	303	c.260C>T	c.(259-261)aCc>aTc	p.T87I		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	87					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGATTGAAGGTCTGCTGCAT	0.443																																																	0								ENSG00000228083						112	110	111					9																	21239675		2203	4300	6503	IFNA14	SO:0001583	missense	0			-	HGNC		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.260C>T	9.37:g.21239675G>A	ENSP00000369571:p.Thr87Ile	Somatic	0	125	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	48	42.17	Q5VZ56|Q7M4S1	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.T87I	ENST00000380222.2	37	c.260	CCDS6501.1	9	.	.	.	.	.	.	.	.	.	.	-	0.786	-0.760644	0.02996	.	.	ENSG00000228083	ENST00000380222	T	0.02323	4.34	3.38	0.727	0.18254	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.873345	0.10112	N	0.714578	T	0.01592	0.0051	N	0.04746	-0.17	0.09310	N	1	B	0.15473	0.013	B	0.22880	0.042	T	0.49934	-0.8886	10	0.10111	T	0.7	.	7.7739	0.29026	0.8613:0.0:0.1387:0.0	.	87	P01570	IFN14_HUMAN	I	87	ENSP00000369571:T87I	ENSP00000369571:T87I	T	-	2	0	IFNA14	21229675	0.000000	0.05858	0.010000	0.14722	0.216000	0.24613	-0.717000	0.04986	0.027000	0.15297	-0.552000	0.04208	ACC	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.443	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA14	protein_coding	OTTHUMT00000051894.1	G	NM_002172	-		21239675	-1	no_errors	ENST00000380222	ensembl	human	known	74_37	missense	SNP	0.178	A	A	21239675	G	A	21239675	3	1	124	1	0	0	0	0	1	0	0	0	7536	1261	44	2	313	2	IFNA14	9	21239675	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		21239675	119973756	63	9247											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccgcggccgtggccagCcagtcagccgaaggctccat	15	16	1	0	rs138677674		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1346	Whole gene deletion(1316)|Unknown(23)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(58)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM994496	CDKN2A	M	rs138677674	ENSG00000147889						13	16	15					9																	21974782		1680	3539	5219	CDKN2A	SO:0001587	stop_gained	0			-	HGNC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.45G>A	9.37:g.21974782C>T	ENSP00000307101:p.Trp15*	Somatic	0	23	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	45.45	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.W15*	ENST00000304494.5	37	c.45	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307496	0.81247	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.23802	N	0.996805	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.1873	0.43006	0.0:0.8197:0.0:0.1803	.	.	.	.	X	15	.	ENSP00000307101:W15X	W	-	3	0	CDKN2A	21964782	0.000000	0.05858	0.013000	0.15412	0.019000	0.09904	-0.767000	0.04720	1.375000	0.46248	0.655000	0.94253	TGG	-	superfamily_Ankyrin_rpt-contain_dom		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	protein_coding	OTTHUMT00000051915.1	C	NM_000077	rs138677674		21974782	-1	no_errors	ENST00000446177	ensembl	human	known	74_37	nonsense	SNP	0.045	T	T	21974782	C	T	21974782	4	4	124	1	0	0	0	0	0	1	0	0	3163	740	26	2	638	2	CDKN2A	9	21974782	Nonsense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	735107	21974782	119238649	64	9248											
TAF1L	138474	genome.wustl.edu	37	chr9	32632751	32632751	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcagcgtgaacttcatcatCaatcttcatctggaaatctt	6	10	7	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:32632751C>A	ENST00000242310.4	-	1	2916	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	943					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTTCATCATCAATCTTCATC	0.488																																																	0								ENSG00000122728						171	157	162					9																	32632751		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2827G>T	9.37:g.32632751C>A	ENSP00000418379:p.Asp943Tyr	Somatic	0	69	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D943Y	ENST00000242310.4	37	c.2827	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347894	0.41599	.	.	ENSG00000122728	ENST00000242310	T	0.15718	2.4	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	M	0.78049	2.395	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.11966	-1.0566	10	0.87932	D	0	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	943	Q8IZX4	TAF1L_HUMAN	Y	943	ENSP00000418379:D943Y	ENSP00000418379:D943Y	D	-	1	0	TAF1L	32622751	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	3.371000	0.52379	0.507000	0.28148	0.195000	0.17529	GAT	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	C		-		32632751	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32632751	C	A	32632751	3	1	124	1	0	0	0	0	1	0	0	0	15530	826	29	3	2657	3	TAF1L	9	32632751	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	10657969	32632751	108580680	65	9249											
FRMD3	257019	genome.wustl.edu	37	chr9	85905553	85905553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttcttcttgctcgctgGgggaaggaagcaggggctgc	16	9	3	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:85905553G>A	ENST00000304195.3	-	13	1366	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	FRMD3_ENST00000376438.1_Missense_Mutation_p.P387L|FRMD3_ENST00000376434.1_Missense_Mutation_p.P193L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	387						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTGCTCGCTGGGGGAAGGAAG	0.517																																																	0								ENSG00000172159						105	106	106					9																	85905553		1914	4135	6049	FRMD3	SO:0001583	missense	0			-	HGNC	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1160C>T	9.37:g.85905553G>A	ENSP00000303508:p.Pro387Leu	Somatic	0	60	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP							pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.P387L	ENST00000304195.3	37	c.1160	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509684	0.64522	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195	D;D;D	0.86562	-1.69;-2.14;-1.67	5.9	5.9	0.94986	.	0.159994	0.56097	D	0.000029	T	0.81522	0.4840	N	0.19112	0.55	0.80722	D	1	B;B	0.25563	0.084;0.129	B;B	0.27076	0.045;0.076	T	0.76798	-0.2826	10	0.46703	T	0.11	.	19.0536	0.93054	0.0:0.0:1.0:0.0	.	387;387	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	L	387;193;387	ENSP00000365621:P387L;ENSP00000365617:P193L;ENSP00000303508:P387L	ENSP00000303508:P387L	P	-	2	0	FRMD3	85095373	1.000000	0.71417	0.857000	0.33713	0.930000	0.56654	5.767000	0.68850	2.806000	0.96561	0.655000	0.94253	CCC	-	NULL		0.517	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	protein_coding	OTTHUMT00000157355.1	G	NM_174938	-		85905553	-1	no_errors	ENST00000304195	ensembl	human	known	74_37	missense	SNP	0.941	A	A	85905553	G	A	85905553	3	1	124	1	0	0	0	0	1	0	0	0	6052	1232	43	2	641	2	FRMD3	9	85905553	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	53272802	85905553	55307878	66	9250											
FANCC	2176	genome.wustl.edu	37	chr9	97869347	97869347	+	Splice_Site	SNP	C	C	A													ctggaccacagggagacttaCcagggtgatgacatcccagg							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:97869347C>A	ENST00000289081.3	-	14	1788		c.e14+1		FANCC_ENST00000375305.1_Splice_Site	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C						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)				GGGAGACTTACCAGGGTGATG	0.582			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0								ENSG00000158169						165	143	151					9																	97869347		2203	4300	6503	FANCC	SO:0001630	splice_region_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	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.1533+1G>T	9.37:g.97869347C>A		Somatic	0	43	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	40	14.89	B1ALR8	Splice_Site	SNP							-	e13+1	ENST00000289081.3	37	c.1533+1	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595899	0.28445	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6518	0.77104	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCC	96909168	0.997000	0.39634	0.909000	0.35828	0.098000	0.18820	4.461000	0.60115	2.411000	0.81874	0.655000	0.94253	.	-	-		0.582	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	protein_coding	OTTHUMT00000053219.1	C	NM_000136	-	Intron	97869347	-1	no_errors	ENST00000289081	ensembl	human	known	74_37	splice_site	SNP	0.986	A	A	97869347	C	A	97869347	5	1	124	1	0	0	0	0	0	0	1	0	5666	521	18	3	150	3	FANCC	9	97869347	Splice_Site	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	11963794	97869347	43344084	67	9251	166	2									
FANCC	2176	genome.wustl.edu	37	chr9	97869348	97869348	+	Splice_Site	SNP	C	C	A													tggaccacagggagacttacCagggtgatgacatcccaggc							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:97869348C>A	ENST00000289081.3	-	14	1787	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	FANCC_ENST00000375305.1_Splice_Site_p.L511L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	511					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)				GGAGACTTACCAGGGTGATGA	0.582			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0								ENSG00000158169						166	144	151					9																	97869348		2203	4300	6503	FANCC	SO:0001630	splice_region_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	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.1533+1G>T	9.37:g.97869348C>A		Somatic	0	43	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	B1ALR8	Silent	SNP							pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.L511	ENST00000289081.3	37	c.1533	CCDS35071.1	9																																																																																			-	pfam_Fanconi,pirsf_Fanconi		0.582	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	protein_coding	OTTHUMT00000053219.1	C	NM_000136	-	Silent	97869348	-1	no_errors	ENST00000289081	ensembl	human	known	74_37	silent	SNP	0.012	A	A	97869348	C	A	97869348	5	1	124	1	0	0	0	0	0	0	1	0	5666	608	21	3	151	3	FANCC	9	97869348	Splice_Site	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	1	97869348	43344083	68	9252	166	2									
PALM2	114299	genome.wustl.edu	37	chr9	112694185	112694206	+	Intron	DEL	ATTCCCTGTTCTCTGCTACCAG	ATTCCCTGTTCTCTGCTACCAG	-													ccaacactgtgactaattgtAttccctgttctctgctacca					rs547916509	byFrequency	TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	ATTCCCTGTTCTCTGCTACCAG	ATTCCCTGTTCTCTGCTACCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:112694185_112694206delATTCCCTGTTCTCTGCTACCAG	ENST00000374531.2	+	6	474				AKAP2_ENST00000555236.1_Splice_Site|PALM2_ENST00000448454.2_Splice_Site|AKAP2_ENST00000510514.5_Splice_Site|PALM2_ENST00000483909.1_Intron|PALM2-AKAP2_ENST00000374530.3_Splice_Site|PALM2_ENST00000314527.4_Splice_Site|PALM2-AKAP2_ENST00000302798.7_Splice_Site	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GACTAATTGTATTCCCTGTTCTCTGCTACCAGATGCAGTAAA	0.554																																																	0								ENSG00000157654																																			PALM2-AKAP2	SO:0001627	intron_variant	0				HGNC	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6823ATTCCCTGTTCTCTGCTACCAG>-	9.37:g.112694185_112694206delATTCCCTGTTCTCTGCTACCAG		Somatic					0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A9Z1X9|Q8N9D5|Q96DU1	Splice_Site	DEL							-	e6-1	ENST00000374531.2	37	c.395-22_395-1	CCDS35099.1	9																																																																																			-	-		0.554	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2-AKAP2	protein_coding	OTTHUMT00000053604.1	ATTCCCTGTTCTCTGCTACCAG	NM_001037293			112694206	1	no_errors	ENST00000374530	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	112694206	ATTCCCTGTTCTCTGCTACCAG	-	112694185	6	5	124	0	1	1	0	1	0	0	0	0	11411	464	16	0		0	PALM2	9	112694185	Intron	DEL	ATTCCCTGTTCTCTGCTACCAG	TCGA-DX-AB2W-01A-11D-A38Z-09	14824837	112694185	28519246	69	9253											
RABGAP1	23637	genome.wustl.edu	37	chr9	125832664	125832664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagagattggttattgCcagggccagtcatttcttgc	12	7	2	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:125832664C>T	ENST00000373647.4	+	15	2078	c.1944C>T	c.(1942-1944)tgC>tgT	p.C648C	RABGAP1_ENST00000373643.5_5'UTR|RABGAP1_ENST00000493854.1_3'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	648	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TTGGTTATTGCCAGGGCCAGT	0.433																																																	0								ENSG00000011454						288	261	270					9																	125832664		2203	4300	6503	RABGAP1	SO:0001819	synonymous_variant	0			-	HGNC	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1944C>T	9.37:g.125832664C>T		Somatic	0	47	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP							pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.C648	ENST00000373647.4	37	c.1944	CCDS6848.2	9																																																																																			-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.433	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	protein_coding	OTTHUMT00000053976.3	C	NM_012197	-		125832664	1	no_errors	ENST00000373647	ensembl	human	known	74_37	silent	SNP	1.000	T	T	125832664	C	T	125832664	2	4	124	1	0	0	0	0	0	0	0	1	12972	747	26	2		2	RABGAP1	9	125832664	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	13138479	125832664	15380767	70	9254											
CRB2	286204	genome.wustl.edu	37	chr9	126133185	126133185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgccttgtgtccacggagGgtcctgtgtggatctgtgga	15	9	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:126133185G>T	ENST00000373631.3	+	7	1854	c.1853G>T	c.(1852-1854)gGg>gTg	p.G618V	CRB2_ENST00000373629.2_Missense_Mutation_p.G286V|CRB2_ENST00000359999.3_Missense_Mutation_p.G618V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	618	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTCCACGGAGGGTCCTGTGTG	0.632																																																	0								ENSG00000148204						62	62	62					9																	126133185		2203	4300	6503	CRB2	SO:0001583	missense	0			-	HGNC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1853G>T	9.37:g.126133185G>T	ENSP00000362734:p.Gly618Val	Somatic	0	13	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G618V	ENST00000373631.3	37	c.1853	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681658	0.47991	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.87491	-2.26;-2.26;-2.26	5.03	4.1	0.47936	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.150554	0.30989	N	0.008461	D	0.95433	0.8517	H	0.97758	4.07	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.67231	0.826;0.95	D	0.96424	0.9314	10	0.87932	D	0	.	13.7032	0.62622	0.0:0.2954:0.7046:0.0	.	618;618	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	V	618;618;286	ENSP00000353092:G618V;ENSP00000362734:G618V;ENSP00000362732:G286V	ENSP00000353092:G618V	G	+	2	0	CRB2	125173006	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.527000	0.67123	1.060000	0.40578	0.448000	0.29417	GGG	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.632	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	protein_coding	OTTHUMT00000053990.3	G	NM_173689	-		126133185	1	no_errors	ENST00000373631	ensembl	human	known	74_37	missense	SNP	0.979	T	T	126133185	G	T	126133185	3	4	124	1	0	0	0	0	1	0	0	0	3851	1232	43	3	1879	3	CRB2	9	126133185	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	300521	126133185	15080246	71	9255											
FAM69B	138311	genome.wustl.edu	37	chr9	139616579	139616579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggccctgtccaggtGtacagcgggctctggcggga	16	12	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:139616579G>A	ENST00000371692.4	+	4	405	c.309G>A	c.(307-309)gtG>gtA	p.V103V	SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Silent_p.V16V|SNHG7_ENST00000416970.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	103						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CTGTCCAGGTGTACAGCGGGC	0.667																																																	0								ENSG00000165716						74	76	75					9																	139616579		2203	4300	6503	FAM69B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.309G>A	9.37:g.139616579G>A		Somatic	0	30	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP							pfam_FAM69_kinase_dom	p.V103	ENST00000371692.4	37	c.309	CCDS7004.1	9																																																																																			-	NULL		0.667	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	protein_coding	OTTHUMT00000055102.1	G	NM_152421	-		139616579	1	no_errors	ENST00000371692	ensembl	human	known	74_37	silent	SNP	1.000	A	A	139616579	G	A	139616579	2	1	124	1	0	0	0	0	0	0	0	1	5605	1364	48	2		2	FAM69B	9	139616579	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	13483394	139616579	1596852	72	9256											
MAMDC4	8721	genome.wustl.edu	37	chr9	139755014	139755014	+	IGR	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctcctcttcctcctcctagGatggtgtcaccctcccggca	8	18	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:139755014G>T	ENST00000224073.1	-	0	640				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Splice_Site_p.D1204Y|MAMDC4_ENST00000317446.2_Splice_Site_p.D1125Y	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCTCCTAGGATGGTGTCAC	0.542																																																	0								ENSG00000177943						64	53	57					9																	139755014		2202	4299	6501	MAMDC4	SO:0001628	intergenic_variant	0			-	HGNC	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139755014G>T		Somatic	0	38	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q5T5T2|Q9UIM1	Missense_Mutation	SNP							pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.D1204Y	ENST00000224073.1	37	c.3610	CCDS7011.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.39|15.39	2.819793|2.819793	0.50633|0.50633	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02709|.	4.26;4.19|.	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	0.000000|.	0.46145|.	D|.	0.000312|.	T|T	0.55593|0.55593	0.1930|0.1930	L|L	0.54323|0.54323	1.7|1.7	0.32524|0.32524	N|N	0.535869|0.535869	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.972;0.991|.	T|T	0.63492|0.63492	-0.6625|-0.6625	9|5	.|.	.|.	.|.	-11.1801|-11.1801	11.153|11.153	0.48471|0.48471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1204;1125|.	Q6UXC1;Q6UXC1-2|.	AEGP_HUMAN;.|.	Y|V	1125;1204|1189	ENSP00000319388:D1125Y;ENSP00000411339:D1204Y|.	.|.	D|G	+|+	1|2	0|0	MAMDC4|MAMDC4	138874835|138874835	0.058000|0.058000	0.20735|0.20735	0.210000|0.210000	0.23637|0.23637	0.033000|0.033000	0.12548|0.12548	0.768000|0.768000	0.26590|0.26590	1.892000|1.892000	0.54788|0.54788	0.561000|0.561000	0.74099|0.74099	GAT|GGA	-	NULL		0.542	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC4	protein_coding	OTTHUMT00000055143.1	G		-		139755014	1	no_errors	ENST00000445819	ensembl	human	known	74_37	missense	SNP	0.656	T	T	139755014	G	T	139755014	1	4	124	0	1	0	0	0	0	0	0	0	9206	1188	41	3		3	MAMDC4	9	139755014	IGR	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	138435	139755014	1458417	73	9257											
CACNA1B	774	genome.wustl.edu	37	chr9	141000214	141000214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcacttcacgtccacgCtgatggccctcatccggacg	9	16	3	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr9:141000214C>A	ENST00000371372.1	+	39	5528	c.5383C>A	c.(5383-5385)Ctg>Atg	p.L1795M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1793M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1796M|CACNA1B_ENST00000371365.2_Missense_Mutation_p.L159M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1794M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.L989M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1795M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1795					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)	CACGTCCACGCTGATGGCCCT	0.642																																																	0								ENSG00000148408						34	35	34					9																	141000214		2129	4221	6350	CACNA1B	SO:0001583	missense	0			-	HGNC	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.5383C>A	9.37:g.141000214C>A	ENSP00000360423:p.Leu1795Met	Somatic	0	30	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	B1AQK5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.L1796M	ENST00000371372.1	37	c.5386	CCDS59522.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.18|14.18	2.459276|2.459276	0.43634|0.43634	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000413253|ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365	.|T;T;T;T;T;T;T	.|0.71579	.|-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.0|5.0	3.89|3.89	0.44902|0.44902	.|.	.|0.083257	.|0.50627	.|D	.|0.000114	D|D	0.84110|0.84110	0.5400|0.5400	H|H	0.94385|0.94385	3.53|3.53	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.64830	.|0.994;0.994;0.994	.|P;P;P	.|0.57911	.|0.829;0.829;0.829	D|D	0.87064|0.87064	0.2155|0.2155	5|10	.|0.87932	.|D	.|0	.|.	9.3774|9.3774	0.38292|0.38292	0.0:0.7698:0.0:0.2302|0.0:0.7698:0.0:0.2302	.|.	.|1795;1794;1793	.|Q00975;B1AQK7;B1AQK6	.|CAC1B_HUMAN;.;.	D|M	159|1795;1795;989;1793;1794;1796;159	.|ENSP00000360423:L1795M;ENSP00000277551:L1795M;ENSP00000277549:L989M;ENSP00000360414:L1793M;ENSP00000360408:L1794M;ENSP00000360406:L1796M;ENSP00000360416:L159M	.|ENSP00000277549:L989M	A|L	+|+	2|1	0|2	CACNA1B|CACNA1B	140120035|140120035	0.945000|0.945000	0.32115|0.32115	0.996000|0.996000	0.52242|0.52242	0.297000|0.297000	0.27493|0.27493	2.070000|2.070000	0.41491|0.41491	2.317000|2.317000	0.78254|0.78254	0.561000|0.561000	0.74099|0.74099	GCT|CTG	-	NULL		0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	C	NM_000718	-		141000214	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	0.974	A	A	141000214	C	A	141000214	3	1	124	1	0	0	0	0	1	0	0	0	2541	796	28	3	5533	3	CACNA1B	9	141000214	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	1245200	141000214	213217	74	9258											
UPF2	26019	genome.wustl.edu	37	chr10	11990442	11990442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agccccaccttcttcttcttCttcatcctcttcaagatttt	2	15	7	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:11990442C>G	ENST00000356352.2	-	15	3573	c.3100G>C	c.(3100-3102)Gaa>Caa	p.E1034Q	UPF2_ENST00000397053.2_Missense_Mutation_p.E1034Q|UPF2_ENST00000357604.5_Missense_Mutation_p.E1034Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1034	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcttcttcttcttcatcctct	0.363																																																	0								ENSG00000151461						140	122	128					10																	11990442		2203	4300	6503	UPF2	SO:0001583	missense	0			-	HGNC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3100G>C	10.37:g.11990442C>G	ENSP00000348708:p.Glu1034Gln	Somatic	0	40	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	49	15.52	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E1034Q	ENST00000356352.2	37	c.3100	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630455	0.46944	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.05258	3.47;3.47;3.47	5.47	5.47	0.80525	.	0.114545	0.64402	D	0.000020	T	0.16599	0.0399	L	0.40543	1.245	0.48341	D	0.999631	D	0.62365	0.991	D	0.74023	0.982	T	0.10706	-1.0618	10	0.14252	T	0.57	.	18.2595	0.90030	0.0:1.0:0.0:0.0	.	1034	Q9HAU5	RENT2_HUMAN	Q	1034	ENSP00000348708:E1034Q;ENSP00000350221:E1034Q;ENSP00000380244:E1034Q	ENSP00000348708:E1034Q	E	-	1	0	UPF2	12030448	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.735000	0.62051	2.728000	0.93425	0.585000	0.79938	GAA	-	NULL		0.363	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	protein_coding	OTTHUMT00000046783.1	C		-		11990442	-1	no_errors	ENST00000356352	ensembl	human	known	74_37	missense	SNP	1.000	G	G	11990442	C	G	11990442	3	3	124	1	0	0	0	0	1	0	0	0	17011	922	32	4	746	4	UPF2	10	11990442	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		11990442	123544305	75	9259											
OPTN	10133	genome.wustl.edu	37	chr10	13167497	13167509	+	Frame_Shift_Del	DEL	AAGTTAGAGCTAC	AAGTTAGAGCTAC	-													agcttgtttatactaacaaaAagttagagctacaagtggaa							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	AAGTTAGAGCTAC	AAGTTAGAGCTAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:13167497_13167509delAAGTTAGAGCTAC	ENST00000378748.3	+	11	1440_1452	c.1078_1090delAAGTTAGAGCTAC	c.(1078-1092)aagttagagctacaafs	p.KLELQ360fs	OPTN_ENST00000378752.3_Frame_Shift_Del_p.KLELQ354fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.KLELQ360fs|OPTN_ENST00000378747.3_Frame_Shift_Del_p.KLELQ360fs|OPTN_ENST00000378764.2_Frame_Shift_Del_p.KLELQ354fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.KLELQ360fs	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	360					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TACTAACAAAAAGTTAGAGCTACAAGTGGAAAG	0.408																																																	0								ENSG00000123240																																			OPTN	SO:0001589	frameshift_variant	0				HGNC	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1078_1090delAAGTTAGAGCTAC	10.37:g.13167497_13167509delAAGTTAGAGCTAC	ENSP00000368022:p.Lys360fs	Somatic					0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Frame_Shift_Del	DEL							pfam_NEMO_N	p.L361fs	ENST00000378748.3	37	c.1078_1090	CCDS7094.1	10																																																																																			-	NULL		0.408	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	protein_coding	OTTHUMT00000046834.1	AAGTTAGAGCTAC	NM_021980			13167509	1	no_errors	ENST00000263036	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.992:0.988:0.993:0.972:0.993:0.990:0.757:0.989:0.963:0.467:0.997	-	-	13167509	AAGTTAGAGCTAC	-	13167497	7	5	124	1	0	1	0	1	0	0	0	0	10891	15	1	0	1108	0	OPTN	10	13167497	Frame_Shift_Del	DEL	AAGTTAGAGCTAC	TCGA-DX-AB2W-01A-11D-A38Z-09	1177055	13167497	122367250	76	9260											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24909075	24909075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctggtggaatttttttAaactgcgacacagatcccac	8	9	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:24909075A>G	ENST00000396432.2	-	9	2235	c.1749T>C	c.(1747-1749)ttT>ttC	p.F583F	ARHGAP21_ENST00000320481.6_Silent_p.F370F	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	582					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GAATTTTTTTAAACTGCGACA	0.408																																																	0								ENSG00000107863						69	70	69					10																	24909075		2202	4300	6502	ARHGAP21	SO:0001819	synonymous_variant	0			-	HGNC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1749T>C	10.37:g.24909075A>G		Somatic	0	81	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	83	10.75	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.F583	ENST00000396432.2	37	c.1749	CCDS7144.2	10																																																																																			-	NULL		0.408	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	A	NM_020824	-		24909075	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	silent	SNP	0.995	G	G	24909075	A	G	24909075	2	3	124	1	0	0	0	0	0	0	0	1	871	359	13	5		5	ARHGAP21	10	24909075	Silent	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	11741578	24909075	110625672	77	9261											
KIAA1462	57608	genome.wustl.edu	37	chr10	30316575	30316575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgttaaaactttctaaCtgactgatcaaatcccaggg	6	10	2	2	rs373784122		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:30316575C>T	ENST00000375377.1	-	3	2603	c.2502G>A	c.(2500-2502)caG>caA	p.Q834Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	834					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AACTTTCTAACTGACTGATCA	0.557																																																	0								ENSG00000165757	C		2,3996		0,2,1997	72	76	75		2502	2.6	0.6	10		75	0,8348		0,0,4174	no	coding-synonymous	KIAA1462	NM_020848.2		0,2,6171	TT,TC,CC		0.0,0.05,0.0162		834/1360	30316575	2,12344	1999	4174	6173	KIAA1462	SO:0001819	synonymous_variant	0			-	HGNC	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2502G>A	10.37:g.30316575C>T		Somatic	0	39	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP							NULL	p.Q834	ENST00000375377.1	37	c.2502	CCDS41500.1	10																																																																																			-	NULL		0.557	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	protein_coding	OTTHUMT00000047409.1	C	NM_020848	-		30316575	-1	no_errors	ENST00000375377	ensembl	human	known	74_37	silent	SNP	0.997	T	T	30316575	C	T	30316575	2	4	124	1	0	0	0	0	0	0	0	1	8236	564	20	2		2	KIAA1462	10	30316575	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	5407500	30316575	105218172	78	9262											
RHOBTB1	9886	genome.wustl.edu	37	chr10	62648444	62648444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccctttcttcctctgggtCgacactcaatatccgcccct	5	18	3	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:62648444C>T	ENST00000337910.5	-	6	1319	c.982G>A	c.(982-984)Gac>Aac	p.D328N	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D328N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	328	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCTCTGGGTCGACACTCAAT	0.537																																																	0								ENSG00000072422						51	56	55					10																	62648444		2203	4300	6503	RHOBTB1	SO:0001583	missense	0			-	HGNC	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.982G>A	10.37:g.62648444C>T	ENSP00000338671:p.Asp328Asn	Somatic	0	48	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25		Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.D328N	ENST00000337910.5	37	c.982	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364174	0.24684	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.18502	2.21;2.21	5.91	5.01	0.66863	BTB/POZ-like (2);BTB/POZ fold (1);	0.318789	0.30260	N	0.010027	T	0.23451	0.0567	M	0.65975	2.015	0.53688	D	0.999976	B	0.18968	0.032	B	0.26770	0.073	T	0.02269	-1.1185	10	0.34782	T	0.22	.	15.2269	0.73359	0.0:0.9326:0.0:0.0674	.	328	O94844	RHBT1_HUMAN	N	328	ENSP00000350595:D328N;ENSP00000338671:D328N	ENSP00000338671:D328N	D	-	1	0	RHOBTB1	62318450	0.435000	0.25577	0.022000	0.16811	0.048000	0.14542	2.490000	0.45294	1.510000	0.48803	0.460000	0.39030	GAC	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.537	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	protein_coding	OTTHUMT00000048220.1	C		-		62648444	-1	no_errors	ENST00000337910	ensembl	human	known	74_37	missense	SNP	0.993	T	T	62648444	C	T	62648444	3	4	124	1	0	0	0	0	1	0	0	0	13341	884	31	1	1132	1	RHOBTB1	10	62648444	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	32331869	62648444	72886303	79	9263											
C10orf90	118611	genome.wustl.edu	37	chr10	128193333	128193333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctggggggcccacgcGtctggccgtgatggtgatgg	21	10	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:128193333G>A	ENST00000284694.7	-	3	556	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	C10orf90_ENST00000454341.1_Missense_Mutation_p.R146C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R99C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R243C|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.R99C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	146	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGGCCCACGCGTCTGGCCGTG	0.692											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000154493						26	31	29					10																	128193333		2177	4276	6453	C10orf90	SO:0001583	missense	0			-	HGNC	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.436C>T	10.37:g.128193333G>A	ENSP00000284694:p.Arg146Cys	Somatic	0	41	0	1563	0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP							NULL	p.R243C	ENST00000284694.7	37	c.727	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764873	0.69878	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.37752	1.47;1.45;1.54;1.48;1.18	5.1	4.19	0.49359	.	0.000000	0.56097	D	0.000034	T	0.56455	0.1986	M	0.65498	2.005	0.47441	D	0.999424	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;0.999;0.995;1.0;1.0	T	0.60444	-0.7262	10	0.87932	D	0	-23.141	12.1279	0.53926	0.0:0.0:0.6883:0.3116	.	243;243;99;146;146	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	C	99;146;146;243;146;99;99	ENSP00000284694:R146C;ENSP00000398786:R146C;ENSP00000444369:R243C;ENSP00000405995:R146C;ENSP00000376459:R99C	ENSP00000284694:R146C	R	-	1	0	C10orf90	128183323	0.992000	0.36948	0.913000	0.36048	0.722000	0.41435	3.237000	0.51344	1.368000	0.46115	0.655000	0.94253	CGC	-	NULL		0.692	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	protein_coding		G	NM_001004298	-		128193333	-1	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	SNP	0.983	A	A	128193333	G	A	128193333	3	1	124	1	0	0	0	0	1	0	0	0	1625	1145	40	1	1691	1	C10orf90	10	128193333	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	65544889	128193333	7341414	80	9264											
INPP5A	3632	genome.wustl.edu	37	chr10	134563094	134563094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggtgaagctcatatttcGtgagtcggacaacgaccgga	13	8	1	2	rs201167385		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr10:134563094G>T	ENST00000368594.3	+	10	1083	c.806G>T	c.(805-807)cGt>cTt	p.R269L	INPP5A_ENST00000368593.3_Missense_Mutation_p.R269L	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	269					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CTCATATTTCGTGAGTCGGAC	0.612																																					Pancreas(63;823 1267 11107 20380 51626)												0								ENSG00000068383						77	67	70					10																	134563094		2203	4300	6503	INPP5A	SO:0001583	missense	0			-	HGNC	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.806G>T	10.37:g.134563094G>T	ENSP00000357583:p.Arg269Leu	Somatic	0	34	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.R269L	ENST00000368594.3	37	c.806	CCDS7669.2	10	.	.	.	.	.	.	.	.	.	.	G	30	5.053357	0.93793	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.50548	0.75;0.74	4.92	4.92	0.64577	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.183120	0.49305	D	0.000148	T	0.64338	0.2589	M	0.68317	2.08	0.80722	D	1	D;D	0.63046	0.984;0.992	P;P	0.60068	0.779;0.868	T	0.63681	-0.6582	10	0.38643	T	0.18	-0.8831	18.5242	0.90965	0.0:0.0:1.0:0.0	.	269;269	Q14642;Q5T1B5	I5P1_HUMAN;.	L	269;269;186	ENSP00000357583:R269L;ENSP00000357582:R269L	ENSP00000357582:R269L	R	+	2	0	INPP5A	134413084	1.000000	0.71417	0.395000	0.26283	0.930000	0.56654	6.878000	0.75567	2.445000	0.82738	0.655000	0.94253	CGT	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.612	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5A	protein_coding	OTTHUMT00000051085.1	G	NM_005539	-		134563094	1	no_errors	ENST00000368594	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134563094	G	T	134563094	3	4	124	1	0	0	0	0	1	0	0	0	7756	1145	40	3	844	3	INPP5A	10	134563094	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	6369761	134563094	971653	81	9265											
RASSF7	8045	genome.wustl.edu	37	chr11	562471	562471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggagctgggccatgagGccttctgggagcaagagctg	17	9	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:562471G>A	ENST00000397583.3	+	3	950	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	RASSF7_ENST00000344375.4_Missense_Mutation_p.A173T|RASSF7_ENST00000431809.1_Missense_Mutation_p.A173T|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000397582.3_Missense_Mutation_p.A173T|RASSF7_ENST00000454668.2_Missense_Mutation_p.A173T|RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	173					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				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)		GGGCCATGAGGCCTTCTGGGA	0.697																																					Pancreas(184;1170 3913 7268)												0								ENSG00000099849						16	15	15					11																	562471		2005	3939	5944	RASSF7	SO:0001583	missense	0			-	HGNC	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.517G>A	11.37:g.562471G>A	ENSP00000380713:p.Ala173Thr	Somatic	0	39	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP							pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.A173T	ENST00000397583.3	37	c.517	CCDS7702.1	11	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575972	0.28092	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	3.52	3.52	0.40303	.	0.611812	0.16672	N	0.204331	D	0.88463	0.6443	L	0.51422	1.61	0.32412	N	0.550469	P;P;P	0.47409	0.879;0.895;0.879	B;B;B	0.42827	0.399;0.351;0.399	D	0.87638	0.2520	10	0.26408	T	0.33	-0.001	10.1253	0.42646	0.0991:0.0:0.9009:0.0	.	173;173;173	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	T	173	ENSP00000403068:A173T;ENSP00000380712:A173T;ENSP00000344226:A173T;ENSP00000380713:A173T;ENSP00000405606:A173T	ENSP00000344226:A173T	A	+	1	0	RASSF7	552471	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.166000	0.50785	1.824000	0.53156	0.462000	0.41574	GCC	-	NULL		0.697	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	protein_coding	OTTHUMT00000254972.2	G	NM_003475	-		562471	1	no_errors	ENST00000344375	ensembl	human	known	74_37	missense	SNP	0.991	A	A	562471	G	A	562471	3	1	124	1	0	0	0	0	1	0	0	0	13099	1203	42	2	523	2	RASSF7	11	562471	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		562471	134444045	82	9266											
MUC5B	727897	genome.wustl.edu	37	chr11	1280258	1280258	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacccaacggtgcaatgtcaGgaggatgcctgcaacaatac	11	11	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:1280258G>C	ENST00000529681.1	+	44	16738	c.16680G>C	c.(16678-16680)caG>caC	p.Q5560H	MUC5B_ENST00000447027.1_Missense_Mutation_p.Q5563H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5560	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)		TGCAATGTCAGGAGGATGCCT	0.652																																																	0								ENSG00000117983						47	53	51					11																	1280258		1947	4092	6039	MUC5B	SO:0001583	missense	0			-	HGNC	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.16680G>C	11.37:g.1280258G>C	ENSP00000436812:p.Gln5560His	Somatic	0	82	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	83	25.89	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Q5563H	ENST00000529681.1	37	c.16689	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921479	0.17982	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.71934	-0.61;-0.61;-0.61	4.7	2.66	0.31614	.	.	.	.	.	T	0.52058	0.1711	N	0.08118	0	0.09310	N	1	B;P	0.36171	0.279;0.541	B;B	0.41412	0.272;0.356	T	0.47699	-0.9097	9	0.87932	D	0	.	5.4515	0.16568	0.105:0.0:0.6988:0.1963	.	5897;5563	A7Y9J9;E9PBJ0	.;.	H	5560;5563;5504;459;5272;105	ENSP00000436812:Q5560H;ENSP00000415793:Q5563H;ENSP00000434539:Q105H	ENSP00000343037:Q5504H	Q	+	3	2	MUC5B	1236834	0.000000	0.05858	0.014000	0.15608	0.030000	0.12068	-0.502000	0.06390	1.107000	0.41642	0.561000	0.74099	CAG	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1280258	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.005	C	C	1280258	G	C	1280258	3	2	124	1	0	0	0	0	1	0	0	0	9981	991	35	4	16863	4	MUC5B	11	1280258	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	717787	1280258	133726258	83	9267											
MRGPRE	116534	genome.wustl.edu	37	chr11	3249728	3249728	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcagaagaagcgcagcGttgccaggctggtctgcacg	15	10	1	2	rs372934659		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:3249728G>C	ENST00000389832.5	-	2	608	c.302C>G	c.(301-303)aCg>aGg	p.T101R	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.T100R			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T100M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCGCAGCGTTGCCAGGCT	0.662																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000184350						39	50	46					11																	3249728		2183	4276	6459	MRGPRE	SO:0001583	missense	0			-	HGNC	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.302C>G	11.37:g.3249728G>C	ENSP00000374482:p.Thr101Arg	Somatic	0	19	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	Q2M1V7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T101R	ENST00000389832.5	37	c.302		11	.	.	.	.	.	.	.	.	.	.	g	11.01	1.514461	0.27123	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.62	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	1.254590	0.05970	U	0.642291	T	0.16769	0.0403	N	0.02916	-0.46	0.09310	N	1	B	0.23249	0.082	B	0.30105	0.111	T	0.34229	-0.9837	9	0.19147	T	0.46	-3.6331	5.2432	0.15483	0.1218:0.0:0.6779:0.2003	.	100	Q86SM8	MRGRE_HUMAN	R	101;100	.	ENSP00000374482:T100R	T	-	2	0	MRGPRE	3206304	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.468000	0.22051	0.675000	0.31264	0.585000	0.79938	ACG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	MRGPRE	protein_coding	OTTHUMT00000032346.5	G	XM_171536	-		3249728	-1	no_errors	ENST00000389832	ensembl	human	known	74_37	missense	SNP	0.002	C	C	3249728	G	C	3249728	3	2	124	1	0	0	0	0	1	0	0	0	9766	1145	40	4	640	4	MRGPRE	11	3249728	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	1969470	3249728	131756788	84	9268											
LYVE1	10894	genome.wustl.edu	37	chr11	10580737	10580737	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtttttatcagttttctttGattcctcattagggttgcta	8	6	3	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:10580737G>C	ENST00000256178.3	-	6	1048	c.890C>G	c.(889-891)tCa>tGa	p.S297*	LYVE1_ENST00000531706.1_5'Flank|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.S193*	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	297					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AGTTTTCTTTGATTCCTCATT	0.423																																																	0								ENSG00000133800						282	259	267					11																	10580737		2201	4294	6495	LYVE1	SO:0001587	stop_gained	0			-	HGNC	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"extracellular link domain containing 1"	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.890C>G	11.37:g.10580737G>C	ENSP00000256178:p.Ser297*	Somatic	0	105	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	72	16.28	Q8TC18|Q9UNF4	Nonsense_Mutation	SNP							pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	p.S297*	ENST00000256178.3	37	c.890	CCDS7804.1	11	.	.	.	.	.	.	.	.	.	.	g	16.94	3.261665	0.59431	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	.	.	.	6.02	4.07	0.47477	.	0.847765	0.10524	N	0.664610	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.0066	8.6869	0.34243	0.0771:0.0:0.7731:0.1498	.	.	.	.	X	297;193	.	ENSP00000256178:S297X	S	-	2	0	LYVE1	10537313	1.000000	0.71417	0.953000	0.39169	0.176000	0.22953	2.693000	0.47027	1.579000	0.49836	-0.119000	0.15052	TCA	-	NULL		0.423	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYVE1	protein_coding	OTTHUMT00000385893.1	G	NM_016164	-		10580737	-1	no_errors	ENST00000256178	ensembl	human	known	74_37	nonsense	SNP	0.990	C	C	10580737	G	C	10580737	4	2	124	1	0	0	0	0	0	1	0	0	9131	1294	45	4	82	4	LYVE1	11	10580737	Nonsense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	7331009	10580737	124425779	85	9269											
RAPSN	5913	genome.wustl.edu	37	chr11	47460330	47460330	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggcctgcagccggctgttCttctcgcctatggactcgcc	12	15	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:47460330C>T	ENST00000298854.2	-	7	1332	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K	RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000529341.1_Silent_p.K314K|RAPSN_ENST00000524487.1_Missense_Mutation_p.E323K|RAPSN_ENST00000352508.3_Silent_p.K314K|RAPSN_ENST00000528356.1_Intron	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	373					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCCGGCTGTTCTTCTCGCCTA	0.667																																																	0								ENSG00000165917						41	35	37					11																	47460330		2195	4284	6479	RAPSN	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.1119G>A	11.37:g.47460330C>T		Somatic	0	93	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	131	19.14	Q8TDF3|Q9BTD9	Missense_Mutation	SNP							pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Postsynaptic	p.E323K	ENST00000298854.2	37	c.967	CCDS7936.1	11	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759457	0.49468	.	.	ENSG00000165917	ENST00000524487	D	0.96554	-4.05	5.77	2.79	0.32731	.	.	.	.	.	D	0.95645	0.8584	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.92170	0.5743	5	.	.	.	-18.8881	8.7354	0.34525	0.0:0.7131:0.1506:0.1363	.	.	.	.	K	323	ENSP00000435551:E323K	.	E	-	1	0	RAPSN	47416906	0.998000	0.40836	0.341000	0.25589	0.993000	0.82548	1.145000	0.31577	0.298000	0.22638	0.603000	0.83216	GAA	-	NULL		0.667	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPSN	protein_coding	OTTHUMT00000391726.1	C		-		47460330	-1	no_errors	ENST00000524487	ensembl	human	novel	74_37	missense	SNP	0.994	T	T	47460330	C	T	47460330	2	4	124	1	0	0	0	0	0	0	0	1	13059	912	32	2		2	RAPSN	11	47460330	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	36879593	47460330	87546186	86	9270											
OR5F1	338674	genome.wustl.edu	37	chr11	55761685	55761685	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgccatttttaggtagacGgtcctggacatgatcaagga	12	8	1	2	rs201523946		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:55761685G>T	ENST00000278409.1	-	1	416	c.417C>A	c.(415-417)acC>acA	p.T139T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	139					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)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTAGGTAGACGGTCCTGGACA	0.522																																																	0								ENSG00000149133						46	48	47					11																	55761685		2201	4296	6497	OR5F1	SO:0001819	synonymous_variant	0			-	HGNC	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.417C>A	11.37:g.55761685G>T		Somatic	0	59	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	Q495D1|Q6IFB9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T139	ENST00000278409.1	37	c.417	CCDS31515.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.522	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	protein_coding	OTTHUMT00000391532.1	G	NM_003697	rs201523946		55761685	-1	no_errors	ENST00000278409	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55761685	G	T	55761685	2	4	124	1	0	0	0	0	0	0	0	1	11160	1103	39	3		3	OR5F1	11	55761685	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	8301355	55761685	79244831	87	9271											
SCGB2A2	4250	genome.wustl.edu	37	chr11	62038380	62038380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccttattggagaatgTgatttccaagacaatcaatc	7	10	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:62038380T>G	ENST00000227918.2	+	2	145	c.83T>G	c.(82-84)gTg>gGg	p.V28G	SCGB2A2_ENST00000525380.1_Missense_Mutation_p.V28G	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	28										large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						TTGGAGAATGTGATTTCCAAG	0.438																																																	0								ENSG00000110484						80	73	76					11																	62038380		2202	4299	6501	SCGB2A2	SO:0001583	missense	0			-	HGNC	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"Secretoglobins"	7050	protein-coding gene	gene with protein product	"mammaglobin A"	605562	"mammaglobin 1"	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.83T>G	11.37:g.62038380T>G	ENSP00000227918:p.Val28Gly	Somatic	0	35	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.33	A1A522|Q86WH8	Missense_Mutation	SNP							pfam_Secretoglobin,superfamily_Secretoglobin	p.V28G	ENST00000227918.2	37	c.83	CCDS8018.1	11	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235867	0.22626	.	.	ENSG00000110484	ENST00000227918;ENST00000525380	T;T	0.16897	2.31;2.31	3.06	-0.688	0.11317	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	1	D;D	0.55172	0.962;0.97	P;P	0.50825	0.519;0.651	T	0.13926	-1.0491	8	0.72032	D	0.01	.	5.8439	0.18652	0.0:0.3934:0.0:0.6066	.	28;28	Q13296-2;Q13296	.;SG2A2_HUMAN	G	28	ENSP00000227918:V28G;ENSP00000431997:V28G	ENSP00000227918:V28G	V	+	2	0	SCGB2A2	61794956	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.130000	0.10498	-0.127000	0.11661	0.378000	0.23410	GTG	-	pfam_Secretoglobin,superfamily_Secretoglobin		0.438	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2A2	protein_coding	OTTHUMT00000394860.1	T	NM_002411	-		62038380	1	no_errors	ENST00000227918	ensembl	human	known	74_37	missense	SNP	0.000	G	G	62038380	T	G	62038380	3	3	124	1	0	0	0	0	1	0	0	0	13908	1696	59	5	89	5	SCGB2A2	11	62038380	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	6276695	62038380	72968136	88	9272											
UVRAG	7405	genome.wustl.edu	37	chr11	75590941	75590941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaatcccacgtggcgaagtCtcgattttggaattatgcca	10	9	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:75590941C>T	ENST00000356136.3	+	4	530	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	97	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTGGCGAAGTCTCGATTTTGG	0.393																																																	0								ENSG00000198382						244	235	238					11																	75590941		2200	4293	6493	UVRAG	SO:0001583	missense	0			-	HGNC	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.289C>T	11.37:g.75590941C>T	ENSP00000348455:p.Leu97Phe	Somatic	0	126	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	116	27.95	B3KTC1|O00392	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.L97F	ENST00000356136.3	37	c.289	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024585	0.75390	.	.	ENSG00000198382	ENST00000356136	T	0.34667	1.35	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	N	0.13043	0.29	0.80722	D	1	P	0.38827	0.649	P	0.45343	0.477	T	0.08027	-1.0742	10	0.35671	T	0.21	-9.7066	18.3143	0.90213	0.0:1.0:0.0:0.0	.	97	Q9P2Y5	UVRAG_HUMAN	F	97	ENSP00000348455:L97F	ENSP00000348455:L97F	L	+	1	0	UVRAG	75268589	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.257000	0.43240	2.678000	0.91216	0.655000	0.94253	CTC	-	smart_C2_dom		0.393	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	protein_coding	OTTHUMT00000383430.1	C	NM_003369	-		75590941	1	no_errors	ENST00000356136	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75590941	C	T	75590941	3	4	124	1	0	0	0	0	1	0	0	0	17115	913	32	2	303	2	UVRAG	11	75590941	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	13552561	75590941	59415575	89	9273											
NAALAD2	10003	genome.wustl.edu	37	chr11	89924822	89924822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatattgaaaataaagccaaCtctcgtttggcctggaaaga	9	7	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:89924822C>T	ENST00000534061.1	+	19	2360	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	NAALAD2_ENST00000321955.4_Silent_p.N677N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.T298I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	710					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATAAAGCCAACTCTCGTTTGG	0.363																																																	0								ENSG00000077616						94	95	95					11																	89924822		2201	4298	6499	NAALAD2	SO:0001819	synonymous_variant	0			-	HGNC	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.2130C>T	11.37:g.89924822C>T		Somatic	0	74	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	77	19.79	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP							pfam_Protease-assoc_domain	p.T298I	ENST00000534061.1	37	c.893	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765455	0.31228	.	.	ENSG00000077616	ENST00000375944	T	0.12465	2.68	5.26	3.36	0.38483	.	.	.	.	.	T	0.08492	0.0211	.	.	.	0.23304	N	0.99794	B	0.09022	0.002	B	0.06405	0.002	T	0.38243	-0.9670	7	.	.	.	-12.8557	8.2695	0.31836	0.0:0.6615:0.0:0.3385	.	298	Q4KKV4	.	I	298	ENSP00000365111:T298I	.	T	+	2	0	NAALAD2	89564470	0.004000	0.15560	0.969000	0.41365	0.735000	0.41995	-0.307000	0.08167	0.700000	0.31782	0.454000	0.30748	ACT	-	NULL		0.363	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	protein_coding	OTTHUMT00000389424.2	C	NM_005467	-		89924822	1	no_errors	ENST00000375944	ensembl	human	novel	74_37	missense	SNP	0.991	T	T	89924822	C	T	89924822	2	4	124	1	0	0	0	0	0	0	0	1	10130	564	20	2		2	NAALAD2	11	89924822	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	14333881	89924822	45081694	90	9274											
NAALAD2	10003	genome.wustl.edu	37	chr11	89924884	89924884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcttttacaattcaagCagcagcaggaactctgaaag	9	9	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:89924884C>T	ENST00000534061.1	+	19	2422	c.2192C>T	c.(2191-2193)gCa>gTa	p.A731V	NAALAD2_ENST00000321955.4_Missense_Mutation_p.A698V|NAALAD2_ENST00000375944.3_3'UTR	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	731					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAATTCAAGCAGCAGCAGGA	0.353																																																	0								ENSG00000077616						69	72	71					11																	89924884		2201	4298	6499	NAALAD2	SO:0001583	missense	0			-	HGNC	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.2192C>T	11.37:g.89924884C>T	ENSP00000432481:p.Ala731Val	Somatic	0	100	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	115	13.53	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP							pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.A731V	ENST00000534061.1	37	c.2192	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.192715	0.94960	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.58506	0.33;0.33	5.08	5.08	0.68730	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.64402	D	0.000003	T	0.77046	0.4073	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.78463	-0.2194	9	.	.	.	-19.5226	18.9015	0.92444	0.0:1.0:0.0:0.0	.	731	Q9Y3Q0	NALD2_HUMAN	V	731;698	ENSP00000432481:A731V;ENSP00000320083:A698V	.	A	+	2	0	NAALAD2	89564532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.972000	0.76110	2.535000	0.85469	0.454000	0.30748	GCA	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.353	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	protein_coding	OTTHUMT00000389424.2	C	NM_005467	-		89924884	1	no_errors	ENST00000534061	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89924884	C	T	89924884	3	4	124	1	0	0	0	0	1	0	0	0	10130	710	25	2	2266	2	NAALAD2	11	89924884	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	62	89924884	45081632	91	9275											
BACE1	23621	genome.wustl.edu	37	chr11	117161674	117161674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcacccattaggtagagtGagatgactgggaaaatgttc	11	8	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:117161674G>A	ENST00000313005.6	-	7	1494	c.1034C>T	c.(1033-1035)tCa>tTa	p.S345L	BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_Missense_Mutation_p.S311L|BACE1_ENST00000392937.6_Missense_Mutation_p.S245L|BACE1_ENST00000445823.2_Missense_Mutation_p.S301L|BACE1_ENST00000513780.1_Missense_Mutation_p.S320L|BACE1_ENST00000510630.1_Missense_Mutation_p.S220L|BACE1_ENST00000428381.2_Missense_Mutation_p.S276L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	345					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;0.000563)|all cancers(92;0.0032)		TAGGTAGAGTGAGATGACTGG	0.537																																																	0								ENSG00000186318						176	154	162					11																	117161674		2201	4296	6497	BACE1	SO:0001583	missense	0			-	HGNC	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1034C>T	11.37:g.117161674G>A	ENSP00000318585:p.Ser345Leu	Somatic	0	37	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	25	44.44	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP							pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase	p.S345L	ENST00000313005.6	37	c.1034	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.165795	0.94768	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823;ENST00000292095	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.93	5.02	0.67125	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.71871	2.18	0.80722	D	1	D;D;D;P;D;D	0.89917	0.999;0.996;1.0;0.928;1.0;0.981	D;D;D;P;D;P	0.83275	0.995;0.969;0.996;0.713;0.993;0.872	T	0.67138	-0.5746	10	0.62326	D	0.03	.	14.3799	0.66905	0.0707:0.0:0.9293:0.0	.	245;220;345;301;276;320	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.;.;BACE1_HUMAN;.;.;.	L	345;245;311;220;276;320;301;111	ENSP00000318585:S345L;ENSP00000431848:S311L;ENSP00000422461:S220L;ENSP00000402228:S276L;ENSP00000424536:S320L;ENSP00000403685:S301L	ENSP00000292095:S111L	S	-	2	0	BACE1	116666884	1.000000	0.71417	0.939000	0.37840	0.818000	0.46254	9.165000	0.94761	1.511000	0.48818	-0.150000	0.13652	TCA	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.537	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	protein_coding	OTTHUMT00000361505.1	G		-		117161674	-1	no_errors	ENST00000313005	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117161674	G	A	117161674	3	1	124	1	0	0	0	0	1	0	0	0	1281	1294	45	2	483	2	BACE1	11	117161674	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	27236790	117161674	17844842	92	9276											
ADAMTS15	170689	genome.wustl.edu	37	chr11	130319097	130319097	+	Frame_Shift_Del	DEL	C	C	-													cggatgctcagttcttggctCccgccttctccactgagcat							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:130319097delC	ENST00000299164.2	+	1	229	c.229delC	c.(229-231)cccfs	p.P77fs		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	77						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTTCTTGGCTCCCGCCTTCTC	0.602																																																	0								ENSG00000166106						58	64	62					11																	130319097		2201	4297	6498	ADAMTS15	SO:0001589	frameshift_variant	0				HGNC	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.229delC	11.37:g.130319097delC	ENSP00000299164:p.Pro77fs	Somatic	0	35	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q32MI6	Frame_Shift_Del	DEL							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.A78fs	ENST00000299164.2	37	c.229	CCDS8488.1	11																																																																																			-	pfam_Peptidase_M12B_N		0.602	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	protein_coding	OTTHUMT00000385638.1	C	NM_139055			130319097	1	no_errors	ENST00000299164	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	130319097	C	-	130319097	7	5	124	1	0	1	0	1	0	0	0	0	260	855	30	0	231	0	ADAMTS15	11	130319097	Frame_Shift_Del	DEL	C	TCGA-DX-AB2W-01A-11D-A38Z-09	13157423	130319097	4687419	93	9277											
SPATA19	219938	genome.wustl.edu	37	chr11	133714498	133714498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagggtggttgatggacAgcttttcctttatgccccga	14	8	0	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr11:133714498A>G	ENST00000299140.3	-	3	227	c.173T>C	c.(172-174)cTg>cCg	p.L58P	SPATA19_ENST00000532889.1_Missense_Mutation_p.L58P	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	58					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GTTGATGGACAGCTTTTCCTT	0.517																																																	0								ENSG00000166118						124	122	123					11																	133714498		2201	4297	6498	SPATA19	SO:0001583	missense	0			-	HGNC	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"spergen 1", "cancer/testis antigen 132"	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.173T>C	11.37:g.133714498A>G	ENSP00000299140:p.Leu58Pro	Somatic	0	36	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q8N7A9	Missense_Mutation	SNP							NULL	p.L58P	ENST00000299140.3	37	c.173	CCDS8493.1	11	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834871	0.32421	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.50001	0.76;0.76	5.24	4.12	0.48240	.	0.442496	0.21816	N	0.068683	T	0.32971	0.0847	N	0.08118	0	0.42632	D	0.993388	P	0.47677	0.899	P	0.48227	0.571	T	0.22765	-1.0207	10	0.72032	D	0.01	.	7.7307	0.28786	0.9034:0.0:0.0966:0.0	.	58	Q7Z5L4	SPT19_HUMAN	P	58	ENSP00000299140:L58P;ENSP00000435248:L58P	ENSP00000299140:L58P	L	-	2	0	SPATA19	133219708	0.872000	0.30054	0.785000	0.31869	0.154000	0.21943	2.703000	0.47110	0.835000	0.34877	0.533000	0.62120	CTG	-	NULL		0.517	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA19	protein_coding	OTTHUMT00000393281.1	A	NM_174927	-		133714498	-1	no_errors	ENST00000299140	ensembl	human	known	74_37	missense	SNP	0.861	G	G	133714498	A	G	133714498	3	3	124	1	0	0	0	0	1	0	0	0	15011	188	7	5	346	5	SPATA19	11	133714498	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	3395401	133714498	1292018	94	9278											
VWF	7450	genome.wustl.edu	37	chr12	6085362	6085362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccatgtcggtgcaggtgCacacatcgcagccctcctcc	9	18	0	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr12:6085362C>A	ENST00000261405.5	-	43	7606	c.7352G>T	c.(7351-7353)tGc>tTc	p.C2451F		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2451	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGCAGGTGCACACATCGCA	0.602																																																	0								ENSG00000110799						92	76	81					12																	6085362		2203	4300	6503	VWF	SO:0001583	missense	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7352G>T	12.37:g.6085362C>A	ENSP00000261405:p.Cys2451Phe	Somatic	0	31	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q8TCE8|Q99806	Missense_Mutation	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.C2451F	ENST00000261405.5	37	c.7352	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354747	0.82243	.	.	ENSG00000110799	ENST00000261405	D	0.92149	-2.98	5.19	5.19	0.71726	von Willebrand factor, type C (4);	0.000000	0.42964	D	0.000635	D	0.96519	0.8864	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96847	0.9622	10	0.56958	D	0.05	.	15.8551	0.78972	0.0:1.0:0.0:0.0	.	2451	P04275	VWF_HUMAN	F	2451	ENSP00000261405:C2451F	ENSP00000261405:C2451F	C	-	2	0	VWF	5955623	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	6.643000	0.74334	2.412000	0.81896	0.591000	0.81541	TGC	-	pirsf_VWF,pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	C	NM_000552	-		6085362	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6085362	C	A	6085362	3	1	124	1	0	0	0	0	1	0	0	0	17253	710	25	3	1129	3	VWF	12	6085362	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		6085362	127766533	95	9279											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21349882	21349882	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tataattatttattctaggcActatcaggataactcctact	4	8	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr12:21349882A>T	ENST00000256958.2	+	8	826	c.730A>T	c.(730-732)Act>Tct	p.T244S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	244					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TATTCTAGGCACTATCAGGAT	0.348																																																	0								ENSG00000134538						157	151	153					12																	21349882		2203	4300	6503	SLCO1B1	SO:0001583	missense	0			-	HGNC		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.730A>T	12.37:g.21349882A>T	ENSP00000256958:p.Thr244Ser	Somatic	0	54	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	131	40.72	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.T244S	ENST00000256958.2	37	c.730	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.576723	0.00887	.	.	ENSG00000134538	ENST00000256958	T	0.38240	1.15	3.24	2.08	0.27032	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.699152	0.14757	N	0.300250	T	0.19087	0.0458	N	0.17674	0.51	0.09310	N	1	B	0.10296	0.003	B	0.20184	0.028	T	0.31392	-0.9945	10	0.08837	T	0.75	.	6.7986	0.23738	0.8865:0.0:0.1135:0.0	.	244	Q9Y6L6	SO1B1_HUMAN	S	244	ENSP00000256958:T244S	ENSP00000256958:T244S	T	+	1	0	SLCO1B1	21241149	0.040000	0.19996	0.008000	0.14137	0.052000	0.14988	3.243000	0.51392	0.445000	0.26639	0.402000	0.26972	ACT	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.348	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	A	NM_006446	-		21349882	1	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	SNP	0.007	T	T	21349882	A	T	21349882	3	4	124	1	0	0	0	0	1	0	0	0	14731	159	6	5	756	5	SLCO1B1	12	21349882	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	15264520	21349882	112502013	96	9280											
SDR9C7	121214	genome.wustl.edu	37	chr12	57317653	57317653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggaaggtaccggctTaggatgaaatctgtcacagg	14	8	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr12:57317653T>C	ENST00000293502.1	-	4	1049	c.906A>G	c.(904-906)ctA>ctG	p.L302L		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	302					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGTACCGGCTTAGGATGAAAT	0.582																																																	0								ENSG00000170426						118	100	106					12																	57317653		2203	4300	6503	SDR9C7	SO:0001819	synonymous_variant	0			-	HGNC	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.906A>G	12.37:g.57317653T>C		Somatic	0	54	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B3KVB4	Silent	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L302	ENST00000293502.1	37	c.906	CCDS8926.1	12																																																																																			-	NULL		0.582	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR9C7	protein_coding	OTTHUMT00000411211.1	T	NM_148897	-		57317653	-1	no_errors	ENST00000293502	ensembl	human	known	74_37	silent	SNP	0.010	C	C	57317653	T	C	57317653	2	2	124	1	0	0	0	0	0	0	0	1	13982	1741	61	5		5	SDR9C7	12	57317653	Silent	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	35967771	57317653	76534242	97	9281											
MED13L	23389	genome.wustl.edu	37	chr12	116408418	116408418	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattgttggggctaaacccAtcttcattggggtagttggc	12	9	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr12:116408418A>G	ENST00000281928.3	-	27	6254	c.6048T>C	c.(6046-6048)gaT>gaC	p.D2016D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2016						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGCTAAACCCATCTTCATTGG	0.522																																																	0								ENSG00000123066						178	152	161					12																	116408418		2203	4300	6503	MED13L	SO:0001819	synonymous_variant	0			-	HGNC	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6048T>C	12.37:g.116408418A>G		Somatic	0	50	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP							pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D2016	ENST00000281928.3	37	c.6048	CCDS9177.1	12																																																																																			-	pfam_Mediator_Med13		0.522	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	protein_coding	OTTHUMT00000403879.3	A		-		116408418	-1	no_errors	ENST00000281928	ensembl	human	known	74_37	silent	SNP	1.000	G	G	116408418	A	G	116408418	2	3	124	1	0	0	0	0	0	0	0	1	9433	214	8	5		5	MED13L	12	116408418	Silent	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	59090765	116408418	17443477	98	9282											
MORN3	283385	genome.wustl.edu	37	chr12	122091053	122091053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcgtcccgcatttggcCatattgtccacccagaagcc	7	15	1	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr12:122091053C>T	ENST00000355329.3	-	4	746	c.576G>A	c.(574-576)atG>atA	p.M192I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	192						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CGCATTTGGCCATATTGTCCA	0.622																																																	0								ENSG00000139714						66	54	58					12																	122091053		2203	4300	6503	MORN3	SO:0001583	missense	0			-	HGNC	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.576G>A	12.37:g.122091053C>T	ENSP00000347486:p.Met192Ile	Somatic	0	94	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	63	30.43	Q86YQ9	Missense_Mutation	SNP							pfam_MORN,smart_MORN	p.M192I	ENST00000355329.3	37	c.576	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	C	7.937	0.741870	0.15642	.	.	ENSG00000139714	ENST00000355329	T	0.39229	1.09	4.86	3.03	0.35002	.	0.350015	0.26453	N	0.024297	T	0.16727	0.0402	N	0.11000	0.08	0.22050	N	0.999391	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.12430	T	0.62	.	1.6535	0.02776	0.1446:0.4708:0.1404:0.2442	.	192	Q6PF18	MORN3_HUMAN	I	192	ENSP00000347486:M192I	ENSP00000347486:M192I	M	-	3	0	MORN3	120575436	0.197000	0.23362	0.964000	0.40570	0.776000	0.43924	-0.155000	0.10115	0.583000	0.29574	0.561000	0.74099	ATG	-	NULL		0.622	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	protein_coding	OTTHUMT00000402154.1	C	NM_173855	-		122091053	-1	no_errors	ENST00000355329	ensembl	human	known	74_37	missense	SNP	0.943	T	T	122091053	C	T	122091053	3	4	124	1	0	0	0	0	1	0	0	0	9711	594	21	2	154	2	MORN3	12	122091053	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	5682635	122091053	11760842	99	9283											
NDFIP2	54602	genome.wustl.edu	37	chr13	80125212	80125212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcagaaacatgtctgaaaGtatggcagctgctcatagaa	10	7	3	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr13:80125212G>T	ENST00000218652.7	+	7	1020	c.968G>T	c.(967-969)aGt>aTt	p.S323I		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	323					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		ATGTCTGAAAGTATGGCAGCT	0.328																																																	0								ENSG00000102471						110	121	117					13																	80125212		2203	4296	6499	NDFIP2	SO:0001583	missense	0			-	HGNC	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.968G>T	13.37:g.80125212G>T	ENSP00000218652:p.Ser323Ile	Somatic	0	54	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP							pfam_NEDD4/BSD2	p.S323I	ENST00000218652.7	37	c.968	CCDS31998.1	13	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671696	0.67928	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.32988	1.43;1.5	5.67	4.82	0.62117	.	0.170323	0.64402	D	0.000004	T	0.40398	0.1115	N	0.24115	0.695	0.48135	D	0.999596	D;D	0.89917	0.998;1.0	D;D	0.77004	0.953;0.989	T	0.20207	-1.0282	10	0.33940	T	0.23	-23.1091	14.6199	0.68576	0.0699:0.0:0.9301:0.0	.	209;323	B4DGY6;Q9NV92	.;NFIP2_HUMAN	I	323;220	ENSP00000218652:S323I;ENSP00000419200:S220I	ENSP00000218652:S323I	S	+	2	0	NDFIP2	79023213	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.980000	0.70516	1.413000	0.46997	0.460000	0.39030	AGT	-	pfam_NEDD4/BSD2		0.328	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	protein_coding	OTTHUMT00000045380.2	G		-		80125212	1	no_errors	ENST00000218652	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80125212	G	T	80125212	3	4	124	1	0	0	0	0	1	0	0	0	10248	1029	36	3	994	3	NDFIP2	13	80125212	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		80125212	35044666	100	9284											
DDX24	57062	genome.wustl.edu	37	chr14	94521472	94521472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagactgaggccttcaTtggtagctcgagcagttcga	12	10	2	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr14:94521472T>C	ENST00000330836.5	-	7	2179	c.2048A>G	c.(2047-2049)aAt>aGt	p.N683S	DDX24_ENST00000555054.1_Missense_Mutation_p.N640S|DDX24_ENST00000544005.1_Missense_Mutation_p.N433S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	683	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GAGGCCTTCATTGGTAGCTCG	0.498																																																	0								ENSG00000089737						173	158	163					14																	94521472		2203	4300	6503	DDX24	SO:0001583	missense	0			-	HGNC	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2048A>G	14.37:g.94521472T>C	ENSP00000328690:p.Asn683Ser	Somatic	0	38	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	E7EMJ4|Q4V9L5	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.N683S	ENST00000330836.5	37	c.2048	CCDS9918.1	14	.	.	.	.	.	.	.	.	.	.	T	4.608	0.112996	0.08831	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04809	3.55;3.55;3.55	5.43	0.493	0.16878	Helicase, C-terminal (1);	0.387052	0.33309	N	0.005051	T	0.02848	0.0085	N	0.14661	0.345	0.24662	N	0.993465	B	0.06786	0.001	B	0.06405	0.002	T	0.44406	-0.9330	10	0.26408	T	0.33	-0.3315	9.6826	0.40078	0.0:0.5442:0.0:0.4558	.	683	Q9GZR7	DDX24_HUMAN	S	683;433;628;309;640;640	ENSP00000328690:N683S;ENSP00000440623:N433S;ENSP00000452145:N640S	ENSP00000328690:N683S	N	-	2	0	DDX24	93591225	0.473000	0.25878	0.686000	0.30086	0.155000	0.21991	0.848000	0.27710	-0.086000	0.12550	0.533000	0.62120	AAT	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX24	protein_coding	OTTHUMT00000412861.1	T	NM_020414	-		94521472	-1	no_errors	ENST00000330836	ensembl	human	known	74_37	missense	SNP	0.854	C	C	94521472	T	C	94521472	3	2	124	1	0	0	0	0	1	0	0	0	4353	1493	52	5	543	5	DDX24	14	94521472	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09		94521472	12828068	101	9285											
TRIM69	140691	genome.wustl.edu	37	chr15	45047473	45047473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgaaactgttcagtaaaCcagatgggaaactgatctgc	9	9	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:45047473C>A	ENST00000559390.1	+	3	1310	c.382C>A	c.(382-384)Cca>Aca	p.P128T	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.P128T			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	128	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GTTCAGTAAACCAGATGGGAA	0.468																																					Pancreas(84;519 1450 1802 20427 34706)												0								ENSG00000185880						83	73	76					15																	45047473		2198	4298	6496	TRIM69	SO:0001583	missense	0			-	HGNC	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.382C>A	15.37:g.45047473C>A	ENSP00000453177:p.Pro128Thr	Somatic	0	48	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	24	62.50	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.P128T	ENST00000559390.1	37	c.382	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060920	0.55432	.	.	ENSG00000185880	ENST00000329464	T	0.52526	0.66	5.17	5.17	0.71159	.	0.103697	0.41396	D	0.000894	T	0.40886	0.1135	L	0.41236	1.265	0.27916	N	0.938423	P	0.37914	0.611	B	0.38106	0.265	T	0.47182	-0.9137	10	0.59425	D	0.04	.	12.2941	0.54836	0.0:0.8292:0.1708:0.0	.	128	Q86WT6	TRI69_HUMAN	T	128	ENSP00000332284:P128T	ENSP00000332284:P128T	P	+	1	0	TRIM69	42834765	0.948000	0.32251	1.000000	0.80357	0.984000	0.73092	0.481000	0.22260	2.584000	0.87258	0.557000	0.71058	CCA	-	NULL		0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	protein_coding	OTTHUMT00000416171.1	C		-		45047473	1	no_errors	ENST00000329464	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45047473	C	A	45047473	3	1	124	1	0	0	0	0	1	0	0	0	16549	507	18	3	388	3	TRIM69	15	45047473	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		45047473	57483919	102	9286											
PRTG	283659	genome.wustl.edu	37	chr15	55912283	55912283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggactcatgagaaaaccgcCcagaatccccagtctcatgg	9	13	2	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:55912283C>A	ENST00000389286.4	-	20	3427	c.3380G>T	c.(3379-3381)gGg>gTg	p.G1127V		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGAAAACCGCCCAGAATCCCC	0.493																																																	0								ENSG00000166450						99	98	98					15																	55912283		1889	4120	6009	PRTG	SO:0001583	missense	0			-	HGNC	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3380G>T	15.37:g.55912283C>A	ENSP00000373937:p.Gly1127Val	Somatic	0	65	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	94	14.55		Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1127V	ENST00000389286.4	37	c.3380	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350089	0.82132	.	.	ENSG00000166450	ENST00000389286	T	0.64085	-0.08	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73563	-0.3943	10	0.87932	D	0	-17.5224	19.132	0.93412	0.0:1.0:0.0:0.0	.	1127	Q2VWP7	PRTG_HUMAN	V	1127	ENSP00000373937:G1127V	ENSP00000373937:G1127V	G	-	2	0	PRTG	53699575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.782000	0.75073	2.768000	0.95171	0.650000	0.86243	GGG	-	NULL		0.493	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	protein_coding	OTTHUMT00000419357.1	C	NM_173814	-		55912283	-1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55912283	C	A	55912283	3	1	124	1	0	0	0	0	1	0	0	0	12643	623	22	3	76	3	PRTG	15	55912283	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	10864810	55912283	46619109	103	9287											
GCNT3	9245	genome.wustl.edu	37	chr15	59911070	59911070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctcaactgcatggaAgacttgctccagagctcagt	10	12	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:59911070A>G	ENST00000396065.1	+	3	1081	c.633A>G	c.(631-633)gaA>gaG	p.E211E	GCNT3_ENST00000560585.1_Silent_p.E211E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	211					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTGCATGGAAGACTTGCTCC	0.488																																																	0								ENSG00000140297						132	124	127					15																	59911070		2190	4290	6480	GCNT3	SO:0001819	synonymous_variant	0			-	HGNC	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.633A>G	15.37:g.59911070A>G		Somatic	0	50	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	76	14.61		Silent	SNP							pfam_Glyco_trans_14	p.E211	ENST00000396065.1	37	c.633	CCDS10172.1	15																																																																																			-	pfam_Glyco_trans_14		0.488	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	protein_coding	OTTHUMT00000256068.1	A	NM_004751	-		59911070	1	no_errors	ENST00000396065	ensembl	human	known	74_37	silent	SNP	1.000	G	G	59911070	A	G	59911070	2	3	124	1	0	0	0	0	0	0	0	1	6304	69	3	5		5	GCNT3	15	59911070	Silent	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	3998787	59911070	42620322	104	9288											
VPS13C	54832	genome.wustl.edu	37	chr15	62273582	62273582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcagaagatctgacttttCatggtggaaacccgtctgtg	10	8	4	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:62273582C>T	ENST00000261517.5	-	22	2198	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E666K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E666K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E709K	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						TCTGACTTTTCATGGTGGAAA	0.368																																																	0								ENSG00000129003						86	80	82					15																	62273582		2203	4300	6503	VPS13C	SO:0001583	missense	0			-	HGNC	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.2125G>A	15.37:g.62273582C>T	ENSP00000261517:p.Glu709Lys	Somatic	0	135	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	186	8.37		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.E709K	ENST00000261517.5	37	c.2125	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797447	0.31777	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.92	2.92	0.33932	.	0.989920	0.08245	N	0.975453	T	0.42539	0.1207	L	0.56769	1.78	0.35419	D	0.793047	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.005;0.005;0.002	T	0.37731	-0.9693	10	0.52906	T	0.07	.	10.9482	0.47312	0.0:0.8007:0.0:0.1993	.	666;709;666;709	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	666;709;709;709	ENSP00000249837:E666K;ENSP00000261517:E709K;ENSP00000379233:E709K;ENSP00000379235:E709K	ENSP00000249837:E666K	E	-	1	0	VPS13C	60060874	0.080000	0.21391	0.959000	0.39883	0.984000	0.73092	0.486000	0.22340	0.352000	0.24053	0.655000	0.94253	GAA	-	NULL		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	C	NM_017684	-		62273582	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	SNP	0.995	T	T	62273582	C	T	62273582	3	4	124	1	0	0	0	0	1	0	0	0	17198	835	29	2	9420	2	VPS13C	15	62273582	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	2362512	62273582	40257810	105	9289											
VPS13C	54832	genome.wustl.edu	37	chr15	62273609	62273609	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaacccgtctgtggaactaCtagataagaaggcttcagat	10	8	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:62273609C>G	ENST00000261517.5	-	22	2171	c.2098G>C	c.(2098-2100)Gta>Cta	p.V700L	VPS13C_ENST00000249837.3_Missense_Mutation_p.V657L|VPS13C_ENST00000395898.3_Missense_Mutation_p.V657L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V700L	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						TGTGGAACTACTAGATAAGAA	0.343																																																	0								ENSG00000129003						79	75	76					15																	62273609		2203	4300	6503	VPS13C	SO:0001583	missense	0			-	HGNC	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.2098G>C	15.37:g.62273609C>G	ENSP00000261517:p.Val700Leu	Somatic	1	135	0.73		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	197	9.63		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.V700L	ENST00000261517.5	37	c.2098	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141915	0.37825	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.34275	1.37;1.37;1.37	5.92	2.47	0.30058	.	0.184175	0.48286	D	0.000181	T	0.19846	0.0477	N	0.25332	0.735	0.33217	D	0.55424	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.14924	-1.0455	10	0.21540	T	0.41	.	4.6931	0.12790	0.0:0.3364:0.1586:0.505	.	657;700;657;700	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	657;700;700;700	ENSP00000249837:V657L;ENSP00000261517:V700L;ENSP00000379233:V700L	ENSP00000249837:V657L	V	-	1	0	VPS13C	60060901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.745000	0.26259	0.497000	0.27926	-0.137000	0.14449	GTA	-	NULL		0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	C	NM_017684	-		62273609	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	SNP	0.982	G	G	62273609	C	G	62273609	3	3	124	1	0	0	0	0	1	0	0	0	17198	565	20	4	9447	4	VPS13C	15	62273609	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	27	62273609	40257783	106	9290											
ANKDD1A	348094	genome.wustl.edu	37	chr15	65219154	65219154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcagctggatgctctgGacttcctcgtgggctctggc	15	12	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:65219154G>A	ENST00000380230.3	+	6	555	c.526G>A	c.(526-528)Gac>Aac	p.D176N	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D176N|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D176N|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D85N|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.D85N	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	176					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GGATGCTCTGGACTTCCTCGT	0.607																																																	0								ENSG00000166839						136	116	123					15																	65219154		2202	4299	6501	ANKDD1A	SO:0001583	missense	0			-	HGNC		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.526G>A	15.37:g.65219154G>A	ENSP00000369579:p.Asp176Asn	Somatic	0	23	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt	p.D176N	ENST00000380230.3	37	c.526	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020978	0.75275	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000496660;ENST00000395723	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.23	4.23	0.50019	Ankyrin repeat-containing domain (4);	0.095315	0.42172	D	0.000752	T	0.52058	0.1711	N	0.03967	-0.31	0.80722	D	1	D;P;D;P	0.56746	0.96;0.863;0.977;0.95	P;P;P;P	0.57244	0.816;0.532;0.787;0.72	T	0.62618	-0.6816	10	0.62326	D	0.03	-29.6929	12.2937	0.54833	0.0:0.0:1.0:0.0	.	176;82;176;176	Q495B1;A4QMR4;Q495B1-2;Q495B1-1	AKD1A_HUMAN;.;.;.	N	176;176;176;85;85	ENSP00000369579:D176N;ENSP00000350329:D176N;ENSP00000379070:D176N;ENSP00000420999:D85N;ENSP00000379073:D85N	ENSP00000350329:D176N	D	+	1	0	ANKDD1A	63006207	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.746000	0.55127	2.363000	0.80096	0.561000	0.74099	GAC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.607	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	protein_coding	OTTHUMT00000256705.2	G	NM_182703	-		65219154	1	no_errors	ENST00000380230	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65219154	G	A	65219154	3	1	124	1	0	0	0	0	1	0	0	0	624	1174	41	2	548	2	ANKDD1A	15	65219154	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	2945545	65219154	37312238	107	9291											
GLCE	26035	genome.wustl.edu	37	chr15	69548731	69548731	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcataagtggggttgaaGgttggtatctgtctgcttca	14	5	3	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr15:69548731G>A	ENST00000261858.2	+	3	814	c.586G>A	c.(586-588)Ggt>Agt	p.G196S	GLCE_ENST00000559420.2_Splice_Site_p.G132S	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGGGTTGAAGGTTGGTATCT	0.413																																																	0								ENSG00000138604						69	70	70					15																	69548731		2200	4296	6496	GLCE	SO:0001630	splice_region_variant	0			-	HGNC	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.586+1G>A	15.37:g.69548731G>A		Somatic	0	53	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	59	20.27	Q6GUQ2	Missense_Mutation	SNP							pfam_C5-epim	p.G196S	ENST00000261858.2	37	c.586	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.069197	0.93950	.	.	ENSG00000138604	ENST00000261858	T	0.42900	0.96	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.72786	-0.4188	10	0.87932	D	0	-15.0894	17.6591	0.88187	0.0:0.0:1.0:0.0	.	196	O94923	GLCE_HUMAN	S	196	ENSP00000261858:G196S	ENSP00000261858:G196S	G	+	1	0	GLCE	67335785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.603000	0.98315	2.578000	0.87016	0.655000	0.94253	GGT	-	NULL		0.413	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	protein_coding		G	NM_015554	-	Missense_Mutation	69548731	1	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69548731	G	A	69548731	5	1	124	1	0	0	0	0	0	0	1	0	6434	1014	35	2	588	2	GLCE	15	69548731	Splice_Site	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	4329577	69548731	32982661	108	9292											
MSLN	10232	genome.wustl.edu	37	chr16	816491	816491	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgaaatgagtcctcagGtgaccgtccggctcgggggt	16	11	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:816491G>C	ENST00000382862.3	+	12	1325		c.e12+1		MSLN_ENST00000563941.1_Splice_Site|MSLN_ENST00000545450.2_Splice_Site|MSLN_ENST00000566549.1_Splice_Site	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin						cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAGTCCTCAGGTGACCGTCCG	0.602																																																	0								ENSG00000102854						70	68	69					16																	816491		2189	4289	6478	MSLN	SO:0001630	splice_region_variant	0			-	HGNC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1230+1G>C	16.37:g.816491G>C		Somatic	0	41	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Splice_Site	SNP							-	e11+1	ENST00000382862.3	37	c.1230+1	CCDS32356.1	16	.	.	.	.	.	.	.	.	.	.	G	9.745	1.166002	0.21538	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	.	.	.	4.67	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.051	0.14508	0.1089:0.0:0.6818:0.2092	.	.	.	.	.	-1	.	.	.	+	.	.	MSLN	756492	0.983000	0.35010	0.829000	0.32907	0.023000	0.10783	2.104000	0.41815	1.040000	0.40099	0.297000	0.19635	.	-	-		0.602	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	protein_coding	OTTHUMT00000109253.2	G		-	Intron	816491	1	no_errors	ENST00000382862	ensembl	human	known	74_37	splice_site	SNP	0.448	C	C	816491	G	C	816491	5	2	124	1	0	0	0	0	0	0	1	0	9883	1275	44	4	1273	4	MSLN	16	816491	Splice_Site	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		816491	89538262	109	9293											
CCNF	899	genome.wustl.edu	37	chr16	2505464	2505464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccactgcggagctgtccaGccaggaggagacgctgctgg	15	14	0	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:2505464G>T	ENST00000397066.4	+	16	1872	c.1784G>T	c.(1783-1785)aGc>aTc	p.S595I	RP11-715J22.3_ENST00000561653.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	595	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAGCTGTCCAGCCAGGAGGAG	0.637																																																	0								ENSG00000162063						43	37	39					16																	2505464		2197	4299	6496	CCNF	SO:0001583	missense	0			-	HGNC	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1784G>T	16.37:g.2505464G>T	ENSP00000380256:p.Ser595Ile	Somatic	0	58	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	B2R8H3|Q96EG9	Missense_Mutation	SNP							pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.S595I	ENST00000397066.4	37	c.1784	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883322	0.51908	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.24908	1.83	5.52	4.56	0.56223	.	0.170880	0.64402	D	0.000005	T	0.20373	0.0490	L	0.43152	1.355	0.30827	N	0.737176	B	0.29341	0.242	B	0.30029	0.11	T	0.18808	-1.0325	10	0.59425	D	0.04	-25.286	5.5426	0.17045	0.1767:0.1652:0.6581:0.0	.	595	P41002	CCNF_HUMAN	I	595;510	ENSP00000380256:S595I	ENSP00000293968:S510I	S	+	2	0	CCNF	2445465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.103000	0.41806	1.315000	0.45114	0.561000	0.74099	AGC	-	NULL		0.637	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	protein_coding	OTTHUMT00000250801.1	G	NM_001761	-		2505464	1	no_errors	ENST00000397066	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2505464	G	T	2505464	3	4	124	1	0	0	0	0	1	0	0	0	2924	971	34	3	1846	3	CCNF	16	2505464	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	1688973	2505464	87849289	110	9294											
EMP2	2013	genome.wustl.edu	37	chr16	10626829	10626829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgaaggccacccacGccaggatgtaggagtagccg	15	12	0	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:10626829G>T	ENST00000359543.3	-	5	646	c.437C>A	c.(436-438)gCg>gAg	p.A146E	EMP2_ENST00000536829.1_Missense_Mutation_p.A146E|RP11-27M24.1_ENST00000535363.1_RNA|EMP2_ENST00000566033.1_5'Flank	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	146					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGCCACCCACGCCAGGATGTA	0.532																																					GBM(158;2021 2691 14714 39478)												0								ENSG00000213853						143	114	124					16																	10626829		2197	4300	6497	EMP2	SO:0001583	missense	0			-	HGNC	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.437C>A	16.37:g.10626829G>T	ENSP00000352540:p.Ala146Glu	Somatic	0	35	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	B2R7V6|D3DUF8	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_EMP_2,prints_PMP22_EMP_MP20	p.A146E	ENST00000359543.3	37	c.437	CCDS10541.1	16	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000406	0.93227	.	.	ENSG00000213853	ENST00000359543;ENST00000536829	D;D	0.91464	-2.85;-2.85	5.37	4.42	0.53409	.	0.000000	0.85682	U	0.000000	D	0.95417	0.8512	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	D	0.95955	0.8957	10	0.87932	D	0	-7.5492	13.6342	0.62213	0.0749:0.0:0.9251:0.0	.	146	P54851	EMP2_HUMAN	E	146	ENSP00000352540:A146E;ENSP00000445712:A146E	ENSP00000352540:A146E	A	-	2	0	EMP2	10534330	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.281000	0.95811	1.413000	0.46997	0.655000	0.94253	GCG	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.532	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP2	protein_coding	OTTHUMT00000251965.1	G	NM_001424	-		10626829	-1	no_errors	ENST00000359543	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10626829	G	T	10626829	3	4	124	1	0	0	0	0	1	0	0	0	5104	1087	38	3	70	3	EMP2	16	10626829	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	8121365	10626829	79727924	111	9295											
PLEKHG4	25894	genome.wustl.edu	37	chr16	67315959	67315959	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggcagcttgtgccctgctCcagggggccatcgaaagtgt	14	12	0	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:67315959C>G	ENST00000360461.5	+	7	3588	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	PLEKHG4_ENST00000379344.3_Silent_p.L351L|PLEKHG4_ENST00000450733.1_Silent_p.L270L|PLEKHG4_ENST00000427155.2_Silent_p.L351L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	351							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTGCCCTGCTCCAGGGGGCCA	0.627																																																	0								ENSG00000196155						57	57	57					16																	67315959		2198	4300	6498	PLEKHG4	SO:0001819	synonymous_variant	0			-	HGNC	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1053C>G	16.37:g.67315959C>G		Somatic	0	55	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	21	60.38	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L351	ENST00000360461.5	37	c.1053	CCDS32466.1	16																																																																																			-	NULL		0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	protein_coding	OTTHUMT00000421395.2	C	NM_015432	-		67315959	1	no_errors	ENST00000360461	ensembl	human	known	74_37	silent	SNP	0.972	G	G	67315959	C	G	67315959	2	3	124	1	0	0	0	0	0	0	0	1	12073	842	30	4		4	PLEKHG4	16	67315959	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	56689130	67315959	23038794	112	9296											
LRRC36	55282	genome.wustl.edu	37	chr16	67410716	67410716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgaagacacgatgaaaGcattctgcaggagggagctt	12	8	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:67410716G>A	ENST00000329956.6	+	11	1766	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.A462T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	583										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CACGATGAAAGCATTCTGCAG	0.527																																																	0								ENSG00000159708						161	150	154					16																	67410716		2198	4300	6498	LRRC36	SO:0001583	missense	0			-	HGNC	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1747G>A	16.37:g.67410716G>A	ENSP00000329943:p.Ala583Thr	Somatic	0	59	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP							NULL	p.A583T	ENST00000329956.6	37	c.1747	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	G	8.104	0.777395	0.16120	.	.	ENSG00000159708	ENST00000329956	T	0.10099	2.91	5.52	-0.246	0.13022	.	0.448765	0.25654	N	0.029200	T	0.05640	0.0148	L	0.31065	0.9	0.80722	D	1	B;B	0.22414	0.069;0.004	B;B	0.22386	0.039;0.007	T	0.37056	-0.9722	10	0.12430	T	0.62	-0.5864	4.6244	0.12470	0.3581:0.0:0.496:0.1459	.	462;583	Q1X8D7-2;Q1X8D7	.;LRC36_HUMAN	T	583	ENSP00000329943:A583T	ENSP00000329943:A583T	A	+	1	0	LRRC36	65968217	0.995000	0.38212	0.655000	0.29622	0.029000	0.11900	0.096000	0.15147	0.267000	0.21916	-0.150000	0.13652	GCA	-	NULL		0.527	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	protein_coding	OTTHUMT00000421770.1	G	NM_018296	-		67410716	1	no_errors	ENST00000329956	ensembl	human	known	74_37	missense	SNP	0.933	A	A	67410716	G	A	67410716	3	1	124	1	0	0	0	0	1	0	0	0	8992	971	34	2	1817	2	LRRC36	16	67410716	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	94757	67410716	22944037	113	9297											
TMCO7	79613	genome.wustl.edu	37	chr16	68961693	68961693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagcagcaacaaaccagtCatgaaagacccactgatgta	8	10	1	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:68961693C>T	ENST00000261778.1	+	13	2362	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	784						integral component of membrane (GO:0016021)											ACAAACCAGTCATGAAAGACC	0.512																																																	0								ENSG00000103047						91	93	92					16																	68961693		1987	4179	6166	TANGO6	SO:0001583	missense	0			-	HGNC		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2350C>T	16.37:g.68961693C>T	ENSP00000261778:p.His784Tyr	Somatic	0	30	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	13	70.45	Q569F9|Q9H9K1	Missense_Mutation	SNP							pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.H784Y	ENST00000261778.1	37	c.2350	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.092837	0.00364	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	-6.22	0.02058	Armadillo-type fold (1);	2.800450	0.00760	N	0.001125	T	0.17704	0.0425	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12578	-1.0542	9	0.11485	T	0.65	7.4903	3.1035	0.06334	0.1068:0.3663:0.1054:0.4215	.	784	Q9C0B7	TMCO7_HUMAN	Y	784	.	ENSP00000261778:H784Y	H	+	1	0	TMCO7	67519194	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.980000	0.03770	-1.103000	0.03019	0.655000	0.94253	CAT	-	pfam_DUF2435,superfamily_ARM-type_fold		0.512	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	protein_coding	OTTHUMT00000433471.2	C	XM_928235.2	-		68961693	1	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	SNP	0.000	T	T	68961693	C	T	68961693	3	4	124	1	0	0	0	0	1	0	0	0	16008	826	29	2	2400	2	TMCO7	16	68961693	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	1550977	68961693	21393060	114	9298											
VAT1L	57687	genome.wustl.edu	37	chr16	77822609	77822609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcgtggagaaggcggaGgagacggagcaaatgatcga	19	5	0	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr16:77822609G>A	ENST00000302536.2	+	1	183	c.30G>A	c.(28-30)gaG>gaA	p.E10E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	10							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGAAGGCGGAGGAGACGGAGC	0.751																																																	0								ENSG00000171724						16	13	14					16																	77822609		2045	4037	6082	VAT1L	SO:0001819	synonymous_variant	0			-	HGNC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.30G>A	16.37:g.77822609G>A		Somatic	0	32	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85	Q8IYW8	Silent	SNP							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.E10	ENST00000302536.2	37	c.30	CCDS32492.1	16																																																																																			-	NULL		0.751	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	protein_coding	OTTHUMT00000434010.1	G	NM_020927	-		77822609	1	no_errors	ENST00000302536	ensembl	human	known	74_37	silent	SNP	1.000	A	A	77822609	G	A	77822609	2	1	124	1	0	0	0	0	0	0	0	1	17137	991	35	2		2	VAT1L	16	77822609	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	8860916	77822609	12532144	115	9299											
TRPV3	162514	genome.wustl.edu	37	chr17	3447913	3447913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggtctctgtcacatcatCctgaggagactggggggagt	16	8	3	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:3447913C>T	ENST00000576742.1	-	4	592	c.271G>A	c.(271-273)Gat>Aat	p.D91N	TRPV3_ENST00000301365.4_Missense_Mutation_p.D91N|TRPV3_ENST00000572519.1_Missense_Mutation_p.D91N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	91					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCACATCATCCTGAGGAGAC	0.577																																																	0								ENSG00000167723						40	39	40					17																	3447913		2203	4300	6503	TRPV3	SO:0001583	missense	0			-	HGNC	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.271G>A	17.37:g.3447913C>T	ENSP00000461518:p.Asp91Asn	Somatic	0	60	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	70	16.47	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.D91N	ENST00000576742.1	37	c.271	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615008	0.66672	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.41400	1.0	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000006	T	0.55752	0.1940	L	0.44542	1.39	0.30511	N	0.769384	D;D;D;D;P;B	0.67145	0.996;0.993;0.993;0.996;0.474;0.419	D;D;D;D;B;B	0.79784	0.993;0.984;0.984;0.993;0.357;0.244	T	0.53208	-0.8471	10	0.30854	T	0.27	-8.2605	16.2359	0.82375	0.0:1.0:0.0:0.0	.	75;75;75;91;91;91	E7EV24;B7ZKP9;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;TRPV3_HUMAN;.	N	91;91;75	ENSP00000301365:D91N	ENSP00000301365:D91N	D	-	1	0	TRPV3	3394663	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.265000	0.58865	2.591000	0.87537	0.550000	0.68814	GAT	-	NULL		0.577	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	protein_coding	OTTHUMT00000207379.2	C	NM_145068	-		3447913	-1	no_errors	ENST00000301365	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3447913	C	T	3447913	3	4	124	1	0	0	0	0	1	0	0	0	16604	855	30	2	2161	2	TRPV3	17	3447913	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09		3447913	77747297	116	9300											
EFNB3	1949	genome.wustl.edu	37	chr17	7611316	7611316	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctgtaccctcagatcGgggaccggctagacctgctc	12	13	1	2	rs201123805		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:7611316G>C	ENST00000226091.2	+	2	560	c.163G>C	c.(163-165)Ggg>Cgg	p.G55R		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	55	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CCCTCAGATCGGGGACCGGCT	0.602																																																	0								ENSG00000108947						42	47	45					17																	7611316		2203	4299	6502	EFNB3	SO:0001583	missense	0			-	HGNC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.163G>C	17.37:g.7611316G>C	ENSP00000226091:p.Gly55Arg	Somatic	0	88	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	90	9.09	B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP							pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.G55R	ENST00000226091.2	37	c.163	CCDS11120.1	17	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724385	0.68959	.	.	ENSG00000108947	ENST00000226091	D	0.94613	-3.47	4.68	4.68	0.58851	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97822	1.0257	10	0.87932	D	0	-16.9217	16.5165	0.84302	0.0:0.0:1.0:0.0	.	55	Q15768	EFNB3_HUMAN	R	55	ENSP00000226091:G55R	ENSP00000226091:G55R	G	+	1	0	EFNB3	7552041	1.000000	0.71417	0.996000	0.52242	0.453000	0.32348	9.148000	0.94652	2.423000	0.82170	0.453000	0.30009	GGG	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin		0.602	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB3	protein_coding	OTTHUMT00000226965.1	G	NM_001406	-		7611316	1	no_errors	ENST00000226091	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7611316	G	C	7611316	3	2	124	1	0	0	0	0	1	0	0	0	4959	1116	39	4	169	4	EFNB3	17	7611316	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	4163403	7611316	73583894	117	9301											
KLHL11	55175	genome.wustl.edu	37	chr17	40011503	40011503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaagctatgaattgccaCacaatttgagagatgaagtt	9	6	0	4			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:40011503C>T	ENST00000319121.3	-	2	676	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	206	BACK.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TGAATTGCCACACAATTTGAG	0.358																																																	0								ENSG00000178502						62	63	63					17																	40011503		2201	4299	6500	KLHL11	SO:0001583	missense	0			-	HGNC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.616G>A	17.37:g.40011503C>T	ENSP00000314608:p.Val206Met	Somatic	0	84	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44		Missense_Mutation	SNP							pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.V206M	ENST00000319121.3	37	c.616	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017479	0.35606	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.70399	-0.48	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.066462	0.64402	D	0.000014	T	0.60612	0.2282	N	0.25332	0.735	0.58432	D	0.999997	P	0.39376	0.67	B	0.36335	0.222	T	0.68198	-0.5472	10	0.87932	D	0	-7.1335	17.9438	0.89034	0.0:1.0:0.0:0.0	.	206	Q9NVR0	KLH11_HUMAN	M	206;69	ENSP00000314608:V206M	ENSP00000314608:V206M	V	-	1	0	KLHL11	37265029	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.644000	0.67902	2.225000	0.72522	0.591000	0.81541	GTG	-	pfam_BACK,smart_BACK		0.358	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	protein_coding	OTTHUMT00000257464.2	C	NM_018143	-		40011503	-1	no_errors	ENST00000319121	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40011503	C	T	40011503	3	4	124	1	0	0	0	0	1	0	0	0	8369	478	17	2	1514	2	KLHL11	17	40011503	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	32400187	40011503	41183707	118	9302											
COIL	8161	genome.wustl.edu	37	chr17	55016500	55016500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtcaatcaactcttTccaaaatacagtgatctgag	7	9	5	2	rs533878148		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:55016500T>C	ENST00000240316.4	-	7	1697	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	555	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													T|||	1	0.000199681	0	0	5008	,	,		17301	0		0.001	False		,,,				2504	0																0								ENSG00000121058						119	114	116					17																	55016500		2203	4300	6503	COIL	SO:0001583	missense	0			-	HGNC	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1663A>G	17.37:g.55016500T>C	ENSP00000240316:p.Lys555Glu	Somatic	0	35	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42	B2R931	Missense_Mutation	SNP							NULL	p.K555E	ENST00000240316.4	37	c.1663	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600898	0.28534	.	.	ENSG00000121058	ENST00000240316	T	0.35048	1.33	4.84	4.84	0.62591	.	0.333481	0.31872	N	0.006935	T	0.21468	0.0517	N	0.14661	0.345	0.21950	N	0.999451	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.32370	T	0.25	-14.4845	10.9787	0.47482	0.0:0.0:0.0:1.0	.	555	P38432	COIL_HUMAN	E	555	ENSP00000240316:K555E	ENSP00000240316:K555E	K	-	1	0	COIL	52371499	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	1.545000	0.36169	2.173000	0.68751	0.533000	0.62120	AAA	-	NULL		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	protein_coding	OTTHUMT00000440618.1	T		-		55016500	-1	no_errors	ENST00000240316	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55016500	T	C	55016500	3	2	124	1	0	0	0	0	1	0	0	0	3667	1792	62	5	71	5	COIL	17	55016500	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	15004997	55016500	26178710	119	9303											
SCN4A	6329	genome.wustl.edu	37	chr17	62026027	62026027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcgaaccagttgtGctcgacaatcttgaagcagg	12	9	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:62026027G>T	ENST00000435607.1	-	16	3164	c.3088C>A	c.(3088-3090)Cac>Aac	p.H1030N	SCN4A_ENST00000578147.1_Missense_Mutation_p.H1030N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1030					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACCAGTTGTGCTCGACAATC	0.632																																																	0								ENSG00000007314						51	54	53					17																	62026027		2201	4300	6501	SCN4A	SO:0001583	missense	0			-	HGNC	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3088C>A	17.37:g.62026027G>T	ENSP00000396320:p.His1030Asn	Somatic	0	48	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.H1030N	ENST00000435607.1	37	c.3088	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764834	0.69878	.	.	ENSG00000007314	ENST00000435607	D	0.85861	-2.04	4.16	4.16	0.48862	Sodium ion transport-associated (1);	0.052924	0.85682	D	0.000000	D	0.89743	0.6803	M	0.80028	2.48	0.58432	D	0.999999	D	0.54964	0.969	P	0.54544	0.755	D	0.88969	0.3399	10	0.30854	T	0.27	.	15.9618	0.79936	0.0:0.0:1.0:0.0	.	1030	P35499	SCN4A_HUMAN	N	1030	ENSP00000396320:H1030N	ENSP00000396320:H1030N	H	-	1	0	SCN4A	59379759	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	9.601000	0.98297	2.324000	0.78689	0.313000	0.20887	CAC	-	pfam_Na_trans_assoc		0.632	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		G	NM_000334	-		62026027	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62026027	G	T	62026027	3	4	124	1	0	0	0	0	1	0	0	0	13928	1319	46	3	2458	3	SCN4A	17	62026027	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	7009527	62026027	19169183	120	9304											
MAP2K6	5608	genome.wustl.edu	37	chr17	67522761	67522761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcatggggaactccattTcagcagctcaaacaggtggt	11	9	3	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:67522761T>G	ENST00000590474.1	+	10	1079	c.792T>G	c.(790-792)ttT>ttG	p.F264L	MAP2K6_ENST00000589647.1_Missense_Mutation_p.F208L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GAACTCCATTTCAGCAGCTCA	0.468																																																	0								ENSG00000108984						104	100	101					17																	67522761		2203	4300	6503	MAP2K6	SO:0001583	missense	0			-	HGNC	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.792T>G	17.37:g.67522761T>G	ENSP00000468348:p.Phe264Leu	Somatic	0	49	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F264L	ENST00000590474.1	37	c.792	CCDS11686.1	17	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843648	0.91197	.	.	ENSG00000108984	ENST00000359094	.	.	.	6.16	-4.3	0.03710	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	0.58075	0.2097	N	0.20328	0.56	0.58432	D	0.999999	D	0.63880	0.993	D	0.81914	0.995	T	0.56890	-0.7904	8	.	.	.	-19.3305	19.3989	0.94620	0.0:0.7847:0.0:0.2153	.	264	P52564	MP2K6_HUMAN	L	264	.	.	F	+	3	2	MAP2K6	65034356	0.371000	0.25056	0.730000	0.30809	0.989000	0.77384	-0.285000	0.08410	-0.891000	0.03940	0.528000	0.53228	TTT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.468	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K6	protein_coding	OTTHUMT00000450689.1	T	NM_002758	-		67522761	1	no_errors	ENST00000590474	ensembl	human	known	74_37	missense	SNP	0.967	G	G	67522761	T	G	67522761	3	3	124	1	0	0	0	0	1	0	0	0	9243	1780	62	5	830	5	MAP2K6	17	67522761	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09	5496734	67522761	13672449	121	9305											
BTBD17	388419	genome.wustl.edu	37	chr17	72352937	72352937	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctcctcgctgctctgGtggaagctgtaggcgtggcg	16	13	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:72352937G>C	ENST00000375366.3	-	3	1422	c.1296C>G	c.(1294-1296)caC>caG	p.H432Q		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	432					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CGCTGCTCTGGTGGAAGCTGT	0.716																																																	0								ENSG00000204347						31	30	30					17																	72352937		2203	4298	6501	BTBD17	SO:0001583	missense	0			-	HGNC		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1296C>G	17.37:g.72352937G>C	ENSP00000364515:p.His432Gln	Somatic	0	41	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62		Missense_Mutation	SNP							pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.H432Q	ENST00000375366.3	37	c.1296	CCDS32719.1	17	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434007	0.62955	.	.	ENSG00000204347	ENST00000375366	D	0.83163	-1.69	5.06	2.57	0.30868	.	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	L	0.36672	1.1	0.49213	D	0.999768	D	0.76494	0.999	D	0.83275	0.996	T	0.82810	-0.0273	10	0.59425	D	0.04	-33.2095	8.1141	0.30933	0.2977:0.0:0.7023:0.0	.	432	A6NE02	BTBDH_HUMAN	Q	432	ENSP00000364515:H432Q	ENSP00000364515:H432Q	H	-	3	2	BTBD17	69864532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.059000	0.57470	0.800000	0.34041	0.556000	0.70494	CAC	-	NULL		0.716	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	protein_coding	OTTHUMT00000442542.1	G	NM_001080466	-		72352937	-1	no_errors	ENST00000375366	ensembl	human	known	74_37	missense	SNP	1.000	C	C	72352937	G	C	72352937	3	2	124	1	0	0	0	0	1	0	0	0	1544	1252	44	4	144	4	BTBD17	17	72352937	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	4830176	72352937	8842273	122	9306											
USH1G	124590	genome.wustl.edu	37	chr17	72916165	72916165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtaggtgccctggcgcaCgaacatcacgtcgctgccca	13	15	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr17:72916165C>A	ENST00000319642.1	-	2	948	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	256					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCTGGCGCACGAACATCACG	0.697																																																	0								ENSG00000182040						35	41	39					17																	72916165		2203	4294	6497	USH1G	SO:0001583	missense	0			-	HGNC	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.766G>T	17.37:g.72916165C>A	ENSP00000320076:p.Val256Leu	Somatic	0	48	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	Q8N251	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V256L	ENST00000319642.1	37	c.766	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984291	0.35036	.	.	ENSG00000182040	ENST00000319642	T	0.74526	-0.85	4.25	3.23	0.37069	.	0.145968	0.46145	D	0.000301	T	0.57932	0.2087	N	0.16266	0.395	0.43902	D	0.996534	B	0.06786	0.001	B	0.06405	0.002	T	0.50693	-0.8798	10	0.27082	T	0.32	-29.5552	13.8484	0.63481	0.0:0.8457:0.1543:0.0	.	256	Q495M9	USH1G_HUMAN	L	256	ENSP00000320076:V256L	ENSP00000320076:V256L	V	-	1	0	USH1G	70427760	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.008000	0.63991	0.964000	0.38108	0.485000	0.47835	GTG	-	NULL		0.697	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	protein_coding	OTTHUMT00000443676.1	C	NM_173477	-		72916165	-1	no_errors	ENST00000319642	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72916165	C	A	72916165	3	1	124	1	0	0	0	0	1	0	0	0	17042	536	19	3	627	3	USH1G	17	72916165	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	563228	72916165	8279045	123	9307											
ST8SIA3	51046	genome.wustl.edu	37	chr18	55024254	55024254	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccataaatatgtttTctctattagcaataacttcc	3	10	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr18:55024254T>A	ENST00000324000.3	+	3	2447	c.413T>A	c.(412-414)tTc>tAc	p.F138Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	138					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|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)	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)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AAATATGTTTTCTCTATTAGC	0.363																																																	0								ENSG00000177511						97	99	99					18																	55024254		2203	4300	6503	ST8SIA3	SO:0001583	missense	0			-	HGNC	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.413T>A	18.37:g.55024254T>A	ENSP00000320431:p.Phe138Tyr	Somatic	0	40	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.F138Y	ENST00000324000.3	37	c.413	CCDS32834.1	18	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660342	0.47572	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.29655	1.56	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.41492	1.28	0.58432	D	0.999999	B	0.24258	0.1	B	0.26094	0.066	T	0.06752	-1.0809	10	0.10902	T	0.67	-6.1765	15.7114	0.77631	0.0:0.0:0.0:1.0	.	138	O43173	SIA8C_HUMAN	Y	245;138	ENSP00000320431:F138Y	ENSP00000320431:F138Y	F	+	2	0	ST8SIA3	53175252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.756000	0.68757	2.193000	0.70182	0.533000	0.62120	TTC	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.363	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	protein_coding	OTTHUMT00000449765.1	T	NM_015879	-		55024254	1	no_errors	ENST00000324000	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55024254	T	A	55024254	3	1	124	1	0	0	0	0	1	0	0	0	15240	1783	62	5	423	5	ST8SIA3	18	55024254	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09		55024254	23052994	124	9308											
ZNF491	126069	genome.wustl.edu	37	chr19	11916909	11916909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatgtggagaaatcttcatGggatattcatcctttaatag	8	6	3	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:11916909G>T	ENST00000323169.5	+	3	472	c.141G>T	c.(139-141)atG>atT	p.M47I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAATCTTCATGGGATATTCAT	0.388																																																	0								ENSG00000177599						71	76	74					19																	11916909		2203	4300	6503	ZNF491	SO:0001583	missense	0			-	HGNC	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.141G>T	19.37:g.11916909G>T	ENSP00000313443:p.Met47Ile	Somatic	0	27	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q3MJ35|Q8NAT8	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M47I	ENST00000323169.5	37	c.141	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	g	1.098	-0.661938	0.03454	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.14266	2.52;2.52	1.01	-2.02	0.07388	Zinc finger, C2H2 (1);	.	.	.	.	T	0.03783	0.0107	N	0.02391	-0.57	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40813	-0.9543	9	0.21014	T	0.42	.	2.0579	0.03585	0.398:0.0:0.3183:0.2837	.	47	Q8N8L2	ZN491_HUMAN	I	47	ENSP00000313443:M47I;ENSP00000392176:M47I	ENSP00000313443:M47I	M	+	3	0	ZNF491	11777909	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.916000	0.01576	-0.729000	0.04875	-0.555000	0.04198	ATG	-	pfscan_Znf_C2H2		0.388	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	protein_coding	OTTHUMT00000344518.1	G	NM_152356	-		11916909	1	no_errors	ENST00000323169	ensembl	human	known	74_37	missense	SNP	0.001	T	T	11916909	G	T	11916909	3	4	124	1	0	0	0	0	1	0	0	0	17949	1348	47	3	143	3	ZNF491	19	11916909	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		11916909	47212074	125	9309											
MAST1	22983	genome.wustl.edu	37	chr19	12977542	12977542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcccgtggaaatccGccagttctcttcctgctctc	11	14	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:12977542G>A	ENST00000251472.4	+	18	2144	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTGGAAATCCGCCAGTTCTCT	0.622																																																	0								ENSG00000105613						85	56	66					19																	12977542		2203	4300	6503	MAST1	SO:0001583	missense	0			-	HGNC	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2105G>A	19.37:g.12977542G>A	ENSP00000251472:p.Arg702His	Somatic	0	9	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R702H	ENST00000251472.4	37	c.2105	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261387	0.59431	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.24723	1.84	4.84	4.84	0.62591	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.162179	0.41097	D	0.000952	T	0.25827	0.0629	L	0.49640	1.575	0.39705	D	0.971246	B	0.26708	0.157	B	0.21546	0.035	T	0.05971	-1.0853	10	0.39692	T	0.17	-28.4494	15.8057	0.78506	0.0:0.0:1.0:0.0	.	702	Q9Y2H9	MAST1_HUMAN	H	702	ENSP00000251472:R702H	ENSP00000251472:R702H	R	+	2	0	MAST1	12838542	0.886000	0.30341	1.000000	0.80357	0.997000	0.91878	3.803000	0.55560	2.405000	0.81733	0.557000	0.71058	CGC	-	superfamily_Kinase-like_dom		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	protein_coding	OTTHUMT00000451733.2	G	NM_014975	-		12977542	1	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12977542	G	A	12977542	3	1	124	1	0	0	0	0	1	0	0	0	9326	1087	38	1	2175	1	MAST1	19	12977542	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	1060633	12977542	46151441	126	9310											
NOTCH3	4854	genome.wustl.edu	37	chr19	15271749	15271749	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaagcgggcctttggGgggctgctgtgtgccccagc	18	12	0	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:15271749G>T	ENST00000263388.2	-	33	6765	c.6690C>A	c.(6688-6690)ccC>ccA	p.P2230P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2230					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCCTTTGGGGGGCTGCTGT	0.706																																																	0								ENSG00000074181						6	8	8					19																	15271749		2128	4188	6316	NOTCH3	SO:0001819	synonymous_variant	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6690C>A	19.37:g.15271749G>T		Somatic	0	23	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P2230	ENST00000263388.2	37	c.6690	CCDS12326.1	19																																																																																			-	pirsf_Notch,pfam_DUF3454_notch		0.706	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	G	NM_000435	-		15271749	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	SNP	0.678	T	T	15271749	G	T	15271749	2	4	124	1	0	0	0	0	0	0	0	1	10552	1219	43	3		3	NOTCH3	19	15271749	Silent	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	2294207	15271749	43857234	127	9311											
CEACAM8	1088	genome.wustl.edu	37	chr19	43092964	43092964	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgatcatcctgactgtggtCctgttgcggccagtggctga	14	10	1	3	rs144424224		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:43092964C>T	ENST00000244336.5	-	4	1031	c.930G>A	c.(928-930)agG>agA	p.R310R	LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	310	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TGACTGTGGTCCTGTTGCGGC	0.498																																																	0								ENSG00000124469	C		1,4405	2.1+/-5.4	0,1,2202	178	168	171		930	-4.1	0	19	dbSNP_134	171	0,8600		0,0,4300	no	coding-synonymous	CEACAM8	NM_001816.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		310/350	43092964	1,13005	2203	4300	6503	CEACAM8	SO:0001819	synonymous_variant	0			-	HGNC	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.930G>A	19.37:g.43092964C>T		Somatic	0	69	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	72	24.21	O60399|Q16574	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R310	ENST00000244336.5	37	c.930	CCDS12610.1	19																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.498	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	protein_coding	OTTHUMT00000321430.1	C		rs144424224		43092964	-1	no_errors	ENST00000244336	ensembl	human	known	74_37	silent	SNP	0.006	T	T	43092964	C	T	43092964	2	4	124	1	0	0	0	0	0	0	0	1	3200	854	30	2		2	CEACAM8	19	43092964	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	27821215	43092964	16036019	128	9312											
PSG1	5669	genome.wustl.edu	37	chr19	43382272	43382272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtaatgtaatggtagaGgtccctcatttgccctttgt	10	7	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:43382272G>T	ENST00000436291.2	-	2	339	c.223C>A	c.(223-225)Ctc>Atc	p.L75I	PSG1_ENST00000312439.6_Missense_Mutation_p.L75I|PSG1_ENST00000595356.1_Missense_Mutation_p.L75I|PSG1_ENST00000244296.2_Missense_Mutation_p.L75I|PSG1_ENST00000403380.3_Missense_Mutation_p.L75I|PSG1_ENST00000595124.1_Missense_Mutation_p.L75I|PSG1_ENST00000601073.1_5'UTR	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	75	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TAATGGTAGAGGTCCCTCATT	0.438																																																	0								ENSG00000231924						220	215	217					19																	43382272		2202	4299	6501	PSG1	SO:0001583	missense	0			-	HGNC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.223C>A	19.37:g.43382272G>T	ENSP00000413041:p.Leu75Ile	Somatic	0	191	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	125	23.31	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L75I	ENST00000436291.2	37	c.223	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	0.032	-1.325286	0.01309	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	1.64	-3.28	0.05033	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65616	0.2708	M	0.67625	2.065	0.09310	N	1	B;B;P;B;B;B;B;D;B	0.71674	0.345;0.001;0.607;0.023;0.339;0.002;0.022;0.998;0.004	B;B;B;B;B;B;B;D;B	0.69654	0.122;0.005;0.146;0.075;0.134;0.008;0.021;0.965;0.012	T	0.54603	-0.8269	9	0.25106	T	0.35	.	0.3803	0.00394	0.3292:0.157:0.3002:0.2136	.	75;75;75;75;75;75;75;75;75	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	I	75	ENSP00000413041:L75I;ENSP00000385386:L75I;ENSP00000308970:L75I;ENSP00000244296:L75I	ENSP00000244296:L75I	L	-	1	0	PSG1	48074112	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.042000	0.01414	-2.602000	0.00450	0.184000	0.17185	CTC	-	pfam_Ig_V-set,smart_Ig_sub		0.438	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	protein_coding	OTTHUMT00000321426.1	G		-		43382272	-1	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43382272	G	T	43382272	3	4	124	1	0	0	0	0	1	0	0	0	12658	1000	35	3	1109	3	PSG1	19	43382272	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	289308	43382272	15746711	129	9313											
DKKL1	27120	genome.wustl.edu	37	chr19	49869110	49869110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgtggtggcatccattcaaCcagcggaggggagcttcgag	15	9	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:49869110C>G	ENST00000221498.2	+	4	790	c.385C>G	c.(385-387)Cca>Gca	p.P129A	DKKL1_ENST00000594268.1_Intron|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	129					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ATCCATTCAACCAGCGGAGGG	0.493																																																	0								ENSG00000104901						110	100	103					19																	49869110		2203	4300	6503	DKKL1	SO:0001583	missense	0			-	HGNC	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.385C>G	19.37:g.49869110C>G	ENSP00000221498:p.Pro129Ala	Somatic	0	41	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20		Missense_Mutation	SNP							NULL	p.P129A	ENST00000221498.2	37	c.385	CCDS12762.1	19	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761151	0.31137	.	.	ENSG00000104901	ENST00000221498	T	0.11821	2.74	4.5	3.44	0.39384	.	0.512935	0.16796	N	0.199174	T	0.14184	0.0343	L	0.57536	1.79	0.09310	N	1	P	0.40107	0.703	B	0.35470	0.203	T	0.10989	-1.0606	10	0.62326	D	0.03	-6.2523	10.6047	0.45388	0.0:0.805:0.195:0.0	.	129	Q9UK85	DKKL1_HUMAN	A	129	ENSP00000221498:P129A	ENSP00000221498:P129A	P	+	1	0	DKKL1	54560922	0.018000	0.18449	0.016000	0.15963	0.218000	0.24690	1.440000	0.35024	1.244000	0.43870	0.561000	0.74099	CCA	-	NULL		0.493	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKKL1	protein_coding	OTTHUMT00000465454.2	C	NM_014419	-		49869110	1	no_errors	ENST00000221498	ensembl	human	known	74_37	missense	SNP	0.040	G	G	49869110	C	G	49869110	3	3	124	1	0	0	0	0	1	0	0	0	4550	507	18	4	399	4	DKKL1	19	49869110	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	6486838	49869110	9259873	130	9314											
NCR1	9437	genome.wustl.edu	37	chr19	55420623	55420623	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgtatgacacacccacCctctcggttcatcctggacc	7	15	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr19:55420623C>A	ENST00000291890.4	+	4	413	c.375C>A	c.(373-375)acC>acA	p.T125T	NCR1_ENST00000338835.5_Silent_p.T125T|NCR1_ENST00000350790.5_Silent_p.T30T|NCR1_ENST00000357397.5_Silent_p.T18T|NCR1_ENST00000598576.1_Silent_p.T113T|NCR1_ENST00000594765.1_Silent_p.T125T|NCR1_ENST00000447255.1_Silent_p.T125T	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	125					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)			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)		ACACACCCACCCTCTCGGTTC	0.483																																																	0								ENSG00000189430						83	71	75					19																	55420623		2203	4300	6503	NCR1	SO:0001819	synonymous_variant	0			-	HGNC	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.375C>A	19.37:g.55420623C>A		Somatic	0	40	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP							smart_Ig_sub	p.T125	ENST00000291890.4	37	c.375	CCDS12911.1	19																																																																																			-	NULL		0.483	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	C		-		55420623	1	no_errors	ENST00000291890	ensembl	human	known	74_37	silent	SNP	0.645	A	A	55420623	C	A	55420623	2	1	124	1	0	0	0	0	0	0	0	1	10239	610	22	3		3	NCR1	19	55420623	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	5551513	55420623	3708360	131	9315											
SEL1L2	80343	genome.wustl.edu	37	chr20	13866984	13866984	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatttatagtattggtataTgtcccaatccaaaatctcac	4	8	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr20:13866984T>A	ENST00000284951.5	-	9	924	c.850A>T	c.(850-852)Ata>Tta	p.I284L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.I284L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	284						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						TATTGGTATATGTCCCAATCC	0.343																																																	0								ENSG00000101251						138	128	131					20																	13866984		1824	4087	5911	SEL1L2	SO:0001583	missense	0			-	HGNC	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.850A>T	20.37:g.13866984T>A	ENSP00000284951:p.Ile284Leu	Somatic	0	87	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	95	21.49	B4DXX5	Missense_Mutation	SNP							pfam_Sel1-like,smart_Sel1-like	p.I284L	ENST00000284951.5	37	c.850		20	.	.	.	.	.	.	.	.	.	.	T	4.030	0.003026	0.07866	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.21031	2.03;2.36	5.78	1.78	0.24846	.	0.162693	0.43110	N	0.000607	T	0.05914	0.0154	N	0.03948	-0.315	0.27816	N	0.941959	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.37337	-0.9710	10	0.05833	T	0.94	-7.7229	4.0545	0.09810	0.1577:0.1873:0.0:0.655	.	284;284	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	284	ENSP00000367312:I284L;ENSP00000284951:I284L	ENSP00000284951:I284L	I	-	1	0	SEL1L2	13814984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.294000	0.19047	0.431000	0.26258	0.454000	0.30748	ATA	-	NULL		0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	T	NM_025229	-		13866984	-1	no_errors	ENST00000284951	ensembl	human	known	74_37	missense	SNP	0.999	A	A	13866984	T	A	13866984	3	1	124	1	0	0	0	0	1	0	0	0	14019	1464	51	5	1264	5	SEL1L2	20	13866984	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09		13866984	49158536	132	9316											
MYH7B	57644	genome.wustl.edu	37	chr20	33582077	33582077	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaggaggagctggcggCcctgcgggcagagctgcggg	22	10	0	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr20:33582077C>G	ENST00000262873.7	+	25	2791	c.2699C>G	c.(2698-2700)gCc>gGc	p.A900G		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	858						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCTGGCGGCCCTGCGGGCA	0.647																																																	0								ENSG00000078814						57	67	64					20																	33582077		1990	4158	6148	MYH7B	SO:0001583	missense	0			-	HGNC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2699C>G	20.37:g.33582077C>G	ENSP00000262873:p.Ala900Gly	Somatic	0	28	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A900G	ENST00000262873.7	37	c.2699	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	9.794	1.178738	0.21787	.	.	ENSG00000078814	ENST00000262873	D	0.93366	-3.21	4.32	4.32	0.51571	.	0.000000	0.37669	N	0.001987	D	0.85461	0.5702	L	0.31578	0.945	0.09310	N	1	B	0.26318	0.146	B	0.22386	0.039	T	0.70103	-0.4964	10	0.16896	T	0.51	.	6.8041	0.23768	0.3001:0.6148:0.0:0.0851	.	858	A7E2Y1	MYH7B_HUMAN	G	900	ENSP00000262873:A900G	ENSP00000262873:A900G	A	+	2	0	MYH7B	33045738	0.017000	0.18338	0.805000	0.32314	0.779000	0.44077	0.705000	0.25675	2.409000	0.81822	0.655000	0.94253	GCC	-	NULL		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	protein_coding	OTTHUMT00000078833.2	C	NM_020884	-		33582077	1	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	SNP	0.082	G	G	33582077	C	G	33582077	3	3	124	1	0	0	0	0	1	0	0	0	10042	739	26	4	2797	4	MYH7B	20	33582077	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	19715093	33582077	29443443	133	9317											
EMILIN3	90187	genome.wustl.edu	37	chr20	39991664	39991664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctccaggcgttccagcCgctcaccaaacagccctggg	9	19	1	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr20:39991664C>T	ENST00000332312.3	-	4	737	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	182						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCGTTCCAGCCGCTCACCAAA	0.602																																																	0								ENSG00000183798																																			EMILIN3	SO:0001583	missense	0			-	HGNC	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.545G>A	20.37:g.39991664C>T	ENSP00000332806:p.Arg182Gln	Somatic	0	38	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	14.00	Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP							pfam_EMI_domain,pfscan_EMI_domain	p.R182Q	ENST00000332312.3	37	c.545	CCDS13316.1	20	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283163	0.59867	.	.	ENSG00000183798	ENST00000332312	T	0.19669	2.13	5.46	4.5	0.54988	.	0.126128	0.53938	N	0.000050	T	0.16342	0.0393	L	0.45137	1.4	0.43667	D	0.996092	P	0.40144	0.704	B	0.29862	0.108	T	0.03166	-1.1065	9	.	.	.	-20.5091	14.5855	0.68320	0.0:0.9287:0.0:0.0713	.	182	Q9NT22	EMIL3_HUMAN	Q	182	ENSP00000332806:R182Q	.	R	-	2	0	EMILIN3	39425078	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.382000	0.59594	1.290000	0.44636	0.455000	0.32223	CGG	-	NULL		0.602	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN3	protein_coding	OTTHUMT00000106876.2	C	XM_029741	-		39991664	-1	no_errors	ENST00000332312	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39991664	C	T	39991664	3	4	124	1	0	0	0	0	1	0	0	0	5097	652	23	1	1759	1	EMILIN3	20	39991664	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	6409587	39991664	23033856	134	9318											
SEMG1	6406	genome.wustl.edu	37	chr20	43836660	43836660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaacctcactctgtcctgCgcaccaagacaaactccaac	4	17	2	1	rs377393231		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr20:43836660C>T	ENST00000372781.3	+	2	779	c.722C>T	c.(721-723)gCg>gTg	p.A241V	SEMG1_ENST00000244069.6_Missense_Mutation_p.A241V	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	241	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCTGTCCTGCGCACCAAGAC	0.378																																																	0								ENSG00000124233	C	VAL/ALA	0,4406		0,0,2203	113	99	104		722	-4.2	0	20		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMG1	NM_003007.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		241/463	43836660	1,13005	2203	4300	6503	SEMG1	SO:0001583	missense	0			-	HGNC		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.722C>T	20.37:g.43836660C>T	ENSP00000361867:p.Ala241Val	Somatic	0	73	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	72	32.08	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP							pfam_Semenogelin	p.A241V	ENST00000372781.3	37	c.722	CCDS13345.1	20	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801935	0.31869	0.0	1.16E-4	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.10668	2.85;2.85	2.09	-4.19	0.03835	.	.	.	.	.	T	0.21145	0.0509	M	0.77616	2.38	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.66196	0.871;0.825;0.942	T	0.08827	-1.0703	9	0.52906	T	0.07	.	0.0928	0.00041	0.3412:0.2169:0.1707:0.2713	.	241;241;241	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	V	241	ENSP00000244069:A241V;ENSP00000361867:A241V	ENSP00000244069:A241V	A	+	2	0	SEMG1	43270074	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.286000	0.08399	-1.450000	0.01936	0.557000	0.71058	GCG	-	pfam_Semenogelin		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	protein_coding	OTTHUMT00000079416.3	C	NM_003007	-		43836660	1	no_errors	ENST00000372781	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43836660	C	T	43836660	3	4	124	1	0	0	0	0	1	0	0	0	14052	768	27	1	728	1	SEMG1	20	43836660	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	3844996	43836660	19188860	135	9319											
CDH4	1002	genome.wustl.edu	37	chr20	60508134	60508134	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccccgaggacgacgtccgCgacaacatcctcaagtatga	10	14	1	1	rs377265888		TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr20:60508134C>A	ENST00000360469.5	+	14	2419	c.2331C>A	c.(2329-2331)cgC>cgA	p.R777R	CDH4_ENST00000543233.1_Silent_p.R703R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	777					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)			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)			ACGACGTCCGCGACAACATCC	0.652																																																	0								ENSG00000179242						101	75	84					20																	60508134		2203	4300	6503	CDH4	SO:0001819	synonymous_variant	0			-	HGNC	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.2331C>A	20.37:g.60508134C>A		Somatic	0	23	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	60	15.49	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.R777	ENST00000360469.5	37	c.2331	CCDS13488.1	20																																																																																			-	pfam_Cadherin_cytoplasmic-dom,prints_Cadherin/Desmocollin		0.652	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	C	NM_001794	-		60508134	1	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	SNP	0.053	A	A	60508134	C	A	60508134	2	1	124	1	0	0	0	0	0	0	0	1	3114	755	27	3		3	CDH4	20	60508134	Silent	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	16671474	60508134	2517386	136	9320											
RTDR1	27156	genome.wustl.edu	37	chr22	23404056	23404056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgctccactgggtcttTcagcagatggaccaggatgg	12	11	2	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr22:23404056T>C	ENST00000216036.4	-	6	917	c.721A>G	c.(721-723)Aaa>Gaa	p.K241E		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		241										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ACTGGGTCTTTCAGCAGATGG	0.587																																																	0								ENSG00000100218						106	77	87					22																	23404056		2203	4300	6503	RTDR1	SO:0001583	missense	0			-	HGNC																												ENST00000216036.4:c.721A>G	22.37:g.23404056T>C	ENSP00000216036:p.Lys241Glu	Somatic	0	32	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66		Missense_Mutation	SNP							pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold	p.K241E	ENST00000216036.4	37	c.721	CCDS13803.1	22	.	.	.	.	.	.	.	.	.	.	T	4.236	0.042644	0.08196	.	.	ENSG00000100218	ENST00000216036	T	0.16743	2.32	4.77	1.14	0.20703	Armadillo-like helical (1);Armadillo-type fold (1);	1.752930	0.02702	N	0.111853	T	0.13970	0.0338	L	0.45581	1.43	0.09310	N	1	B	0.22080	0.064	B	0.24848	0.056	T	0.21827	-1.0234	10	0.08381	T	0.77	-2.7304	1.6016	0.02675	0.1765:0.1015:0.1688:0.5532	.	241	Q9UHP6	RTDR1_HUMAN	E	241	ENSP00000216036:K241E	ENSP00000216036:K241E	K	-	1	0	RTDR1	21734056	0.008000	0.16893	0.009000	0.14445	0.032000	0.12392	-0.032000	0.12266	0.223000	0.20920	0.379000	0.24179	AAA	-	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold		0.587	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	protein_coding	OTTHUMT00000319049.1	T		-		23404056	-1	no_errors	ENST00000216036	ensembl	human	known	74_37	missense	SNP	0.003	C	C	23404056	T	C	23404056	3	2	124	1	0	0	0	0	1	0	0	0	13727	1792	62	5	333	5	RTDR1	22	23404056	Missense_Mutation	SNP	T	TCGA-DX-AB2W-01A-11D-A38Z-09		23404056	27900510	137	9321											
MYH9	4627	genome.wustl.edu	37	chr22	36681262	36681262	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacttgacagtgccctccatCtcctgcagcttgaccttaag	8	14	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chr22:36681262C>G	ENST00000216181.5	-	38	5618	c.5388G>C	c.(5386-5388)gaG>gaC	p.E1796D	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1796					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGCCCTCCATCTCCTGCAGCT	0.587			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								ENSG00000100345						144	112	123					22																	36681262		2203	4300	6503	MYH9	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5388G>C	22.37:g.36681262C>G	ENSP00000216181:p.Glu1796Asp	Somatic	0	26	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1796D	ENST00000216181.5	37	c.5388	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566379	0.65651	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	D	0.84730	-1.89	5.03	3.98	0.46160	Myosin tail (1);Regulator of G protein signalling superfamily (1);	0.058396	0.64402	D	0.000003	D	0.87529	0.6200	M	0.76328	2.33	0.80722	D	1	P	0.41366	0.747	P	0.48270	0.572	D	0.87790	0.2618	10	0.87932	D	0	.	11.0668	0.47980	0.0:0.8466:0.0:0.1534	.	1796	P35579	MYH9_HUMAN	D	1218;398;1796	ENSP00000216181:E1796D	ENSP00000216181:E1796D	E	-	3	2	MYH9	35011208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.895000	0.39778	1.069000	0.40788	0.557000	0.71058	GAG	-	pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam		0.587	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	C	NM_002473	-		36681262	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	SNP	1.000	G	G	36681262	C	G	36681262	3	3	124	1	0	0	0	0	1	0	0	0	10044	912	32	4	510	4	MYH9	22	36681262	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	13277206	36681262	14623304	138	9322											
PLCXD1	55344	genome.wustl.edu	37	chrX	215829	215829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgttctggcgcacccgtccGagtccctggagaagatgacg	13	13	1	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:215829G>A	ENST00000381657.2	+	7	1313	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PLCXD1_ENST00000381663.3_Missense_Mutation_p.E267K|PLCXD1_ENST00000399012.1_Missense_Mutation_p.E267K	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	267					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		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)				GCACCCGTCCGAGTCCCTGGA	0.652																																																	0								ENSG00000182378						121	108	112					X																	215829		2203	4296	6499	PLCXD1	SO:0001583	missense	0			-	HGNC	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.799G>A	X.37:g.215829G>A	ENSP00000371073:p.Glu267Lys	Somatic	0	125	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	102	24.44	A2BH51|A2BH52	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.E267K	ENST00000381657.2	37	c.799	CCDS14103.1	X	.	.	.	.	.	.	.	.	.	.	.	4.180	0.031928	0.08101	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.29655	1.56;1.56;1.56	1.77	-0.753	0.11068	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.717660	0.13746	N	0.365595	T	0.08492	0.0211	.	.	.	0.09310	N	1	P	0.36412	0.552	B	0.22152	0.038	T	0.32268	-0.9913	9	0.07175	T	0.84	-6.1112	4.6553	0.12615	0.156:0.2206:0.6234:0.0	.	267	Q9NUJ7	PLCX1_HUMAN	K	267	ENSP00000381976:E267K;ENSP00000371073:E267K;ENSP00000371079:E267K	ENSP00000371073:E267K	E	+	1	0	PLCXD1	155829	0.596000	0.26866	0.275000	0.24674	0.664000	0.39144	0.881000	0.28173	-0.482000	0.06782	0.181000	0.17075	GAG	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.652	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLCXD1	protein_coding	OTTHUMT00000058879.2	G	NM_018390	-		215829	1	no_errors	ENST00000381657	ensembl	human	known	74_37	missense	SNP	0.880	A	A	215829	G	A	215829	3	1	124	1	0	0	0	0	1	0	0	0	12043	1059	37	1	821	1	PLCXD1	23	215829	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09		215829	155054731	139	9323											
CACNA1F	778	genome.wustl.edu	37	chrX	49065762	49065762	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttcatcttcctcctccactCcctcctgcccctcttcttcc	1	22	4	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:49065762C>G	ENST00000376265.2	-	42	5007	c.4946G>C	c.(4945-4947)gGa>gCa	p.G1649A	CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1638A|CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1584A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1649					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ctcctccactccctcctgccc	0.547																																																	0								ENSG00000102001						174	116	135					X																	49065762		2203	4299	6502	CACNA1F	SO:0001583	missense	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4946G>C	X.37:g.49065762C>G	ENSP00000365441:p.Gly1649Ala	Somatic	0	106	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	53	41.49	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.G1649A	ENST00000376265.2	37	c.4946	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	0.131	-1.113938	0.01799	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265;ENST00000486943	D;D;D	0.96104	-3.91;-3.84;-3.84	4.43	0.969	0.19686	.	1.258290	0.05586	N	0.573880	D	0.84781	0.5548	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.76727	-0.2853	10	0.02654	T	1	.	0.8477	0.01165	0.1654:0.2098:0.3395:0.2854	.	1638;1649	F5CIQ9;O60840	.;CAC1F_HUMAN	A	1584;1638;1649;59	ENSP00000365427:G1584A;ENSP00000321618:G1638A;ENSP00000365441:G1649A	ENSP00000321618:G1638A	G	-	2	0	CACNA1F	48952706	0.000000	0.05858	0.004000	0.12327	0.903000	0.53119	-0.289000	0.08365	0.275000	0.22094	0.600000	0.82982	GGA	-	NULL		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	C	NM_005183	-		49065762	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	SNP	0.000	G	G	49065762	C	G	49065762	3	3	124	1	0	0	0	0	1	0	0	0	2545	855	30	4	1015	4	CACNA1F	23	49065762	Missense_Mutation	SNP	C	TCGA-DX-AB2W-01A-11D-A38Z-09	48849933	49065762	106204798	140	9324											
FOXP3	50943	genome.wustl.edu	37	chrX	49107859	49107859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgtttcttgcggaactccAgctcatccacggtccacaca	7	16	2	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:49107859A>G	ENST00000376207.4	-	12	1419	c.1232T>C	c.(1231-1233)cTg>cCg	p.L411P	FOXP3_ENST00000376199.2_Missense_Mutation_p.L376P|FOXP3_ENST00000518685.1_Missense_Mutation_p.L376P|FOXP3_ENST00000557224.1_Missense_Mutation_p.L436P|FOXP3_ENST00000455775.2_Missense_Mutation_p.L384P|FOXP3_ENST00000376197.1_Missense_Mutation_p.L421P	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	411					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|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 beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GCGGAACTCCAGCTCATCCAC	0.607																																					GBM(182;1432 2112 16160 23073 31774)												0								ENSG00000049768						96	68	77					X																	49107859		2203	4300	6503	FOXP3	SO:0001583	missense	0			-	HGNC		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1232T>C	X.37:g.49107859A>G	ENSP00000365380:p.Leu411Pro	Somatic	0	24	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	10	50.00	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L411P	ENST00000376207.4	37	c.1232	CCDS14323.1	X	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323194	0.41096	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	4.58	4.58	0.56647	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.371350	0.19341	N	0.116659	D	0.92958	0.7759	L	0.28504	0.86	0.58432	D	0.999999	P;P;P;P;P	0.49253	0.822;0.921;0.904;0.822;0.786	P;P;P;P;B	0.48400	0.447;0.576;0.461;0.576;0.44	D	0.91452	0.5182	10	0.36615	T	0.2	.	12.1704	0.54155	1.0:0.0:0.0:0.0	.	384;434;436;411;376	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	P	411;376;436;376;421;384	ENSP00000365380:L411P;ENSP00000365372:L376P;ENSP00000451208:L436P;ENSP00000428952:L376P;ENSP00000365369:L421P;ENSP00000396415:L384P	ENSP00000365369:L421P	L	-	2	0	FOXP3	48994803	0.072000	0.21174	0.987000	0.45799	0.856000	0.48823	3.189000	0.50965	1.504000	0.48704	0.352000	0.21897	CTG	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.607	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	protein_coding	OTTHUMT00000060814.1	A	NM_014009	-		49107859	-1	no_errors	ENST00000376207	ensembl	human	known	74_37	missense	SNP	0.979	G	G	49107859	A	G	49107859	3	3	124	1	0	0	0	0	1	0	0	0	6030	188	7	5	67	5	FOXP3	23	49107859	Missense_Mutation	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	42097	49107859	106162701	141	9325											
ATRX	546	genome.wustl.edu	37	chrX	76814269	76814272	+	Frame_Shift_Del	DEL	ATTA	ATTA	-													actcgattagcagctaccagAttaattcctagagatcctgc							TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	ATTA	ATTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:76814269_76814272delATTA	ENST00000373344.5	-	29	6586_6589	c.6372_6375delTAAT	c.(6370-6375)attaatfs	p.IN2124fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IN2086fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2124	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAGCTACCAGATTAATTCCTAGAG	0.319			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6372_6375delTAAT	X.37:g.76814269_76814272delATTA	ENSP00000362441:p.Ile2124fs	Somatic	0	329	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	155	36.48	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N2125fs	ENST00000373344.5	37	c.6375_6372	CCDS14434.1	X																																																																																			-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.319	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	ATTA	NM_000489			76814272	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	76814272	ATTA	-	76814269	7	5	124	1	0	1	0	1	0	0	0	0	1208	330	12	0	1131	0	ATRX	23	76814269	Frame_Shift_Del	DEL	ATTA	TCGA-DX-AB2W-01A-11D-A38Z-09	27706410	76814269	78456291	142	9326											
XKRX	402415	genome.wustl.edu	37	chrX	100183251	100183251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcctccagagatgaaaccgGatccacatttggctcctcag	8	13	1	2			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:100183251G>T	ENST00000372956.2	-	1	647	c.43C>A	c.(43-45)Ccg>Acg	p.P15T	XKRX_ENST00000468904.1_Missense_Mutation_p.P15T|XKRX_ENST00000328526.5_Missense_Mutation_p.P28T			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GATGAAACCGGATCCACATTT	0.478																																																	0								ENSG00000182489						175	170	172					X																	100183251		2203	4300	6503	XKRX	SO:0001583	missense	0			-	HGNC	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.43C>A	X.37:g.100183251G>T	ENSP00000362047:p.Pro15Thr	Somatic	0	44	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP							pfam_Transport_prot_XK	p.P28T	ENST00000372956.2	37	c.82	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304049	0.23736	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T	0.64085	-0.08;-0.07	4.65	4.65	0.58169	.	1.131670	0.06639	N	0.760668	T	0.45357	0.1338	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.20840	-1.0263	10	0.31617	T	0.26	-0.2079	11.7562	0.51875	0.0:0.0:1.0:0.0	.	15	Q6PP77	XKR2_HUMAN	T	28;15;15	ENSP00000327570:P28T;ENSP00000362047:P15T	ENSP00000327570:P28T	P	-	1	0	XKRX	100069907	0.011000	0.17503	0.082000	0.20525	0.992000	0.81027	0.852000	0.27764	2.158000	0.67659	0.429000	0.28392	CCG	-	NULL		0.478	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	protein_coding	OTTHUMT00000057501.3	G	NM_212559	-		100183251	-1	no_errors	ENST00000328526	ensembl	human	known	74_37	missense	SNP	0.003	T	T	100183251	G	T	100183251	3	4	124	1	0	0	0	0	1	0	0	0	17446	1174	41	3	1318	3	XKRX	23	100183251	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	23368982	100183251	55087309	143	9327											
IRS4	8471	genome.wustl.edu	37	chrX	107976496	107976496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcaagagccatggctgGtgtcattgctgagttgaaaa	13	7	2	3			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:107976496G>T	ENST00000372129.2	-	1	3155	c.3079C>A	c.(3079-3081)Cca>Aca	p.P1027T	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1027					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCATGGCTGGTGTCATTGCT	0.473																																																	0								ENSG00000133124						85	79	81					X																	107976496		2203	4300	6503	IRS4	SO:0001583	missense	0			-	HGNC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3079C>A	X.37:g.107976496G>T	ENSP00000361202:p.Pro1027Thr	Somatic	0	61	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71		Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1027T	ENST00000372129.2	37	c.3079	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081731	0.36758	.	.	ENSG00000133124	ENST00000372129	T	0.48522	0.81	5.38	2.19	0.27852	.	0.292856	0.32608	N	0.005876	T	0.33206	0.0855	L	0.27053	0.805	0.32588	N	0.527551	P	0.42692	0.787	B	0.43251	0.413	T	0.46205	-0.9208	10	0.72032	D	0.01	-8.8698	5.6011	0.17355	0.1015:0.1263:0.6406:0.1316	.	1027	O14654	IRS4_HUMAN	T	1027	ENSP00000361202:P1027T	ENSP00000361202:P1027T	P	-	1	0	IRS4	107863152	1.000000	0.71417	0.944000	0.38274	0.496000	0.33645	2.798000	0.47884	0.992000	0.38840	0.600000	0.82982	CCA	-	NULL		0.473	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	G	NM_003604	-		107976496	-1	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	SNP	0.976	T	T	107976496	G	T	107976496	3	4	124	1	0	0	0	0	1	0	0	0	7844	1261	44	3	698	3	IRS4	23	107976496	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	7793245	107976496	47294064	144	9328											
HTR2C	3358	genome.wustl.edu	37	chrX	113965856	113965856	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactttcaatcgtcatcatAataatcatgacaataggtgg	7	8	4	1			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:113965856A>T	ENST00000276198.1	+	4	917	c.189A>T	c.(187-189)atA>atT	p.I63I	HTR2C_ENST00000371951.1_Silent_p.I63I|HTR2C_ENST00000371950.3_Silent_p.I63I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	63					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGTCATCATAATAATCATGA	0.428																																																	0								ENSG00000147246						183	150	161					X																	113965856		2203	4300	6503	HTR2C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.189A>T	X.37:g.113965856A>T		Somatic	0	94	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48	B1AMW4|Q5VUF8|Q9NP28	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.I63	ENST00000276198.1	37	c.189	CCDS14564.1	X																																																																																			-	prints_GPCR_Rhodpsn		0.428	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	protein_coding	OTTHUMT00000057962.1	A	NM_000868	-		113965856	1	no_errors	ENST00000276198	ensembl	human	known	74_37	silent	SNP	0.937	T	T	113965856	A	T	113965856	2	4	124	1	0	0	0	0	0	0	0	1	7445	352	13	5		5	HTR2C	23	113965856	Silent	SNP	A	TCGA-DX-AB2W-01A-11D-A38Z-09	5989360	113965856	41304704	145	9329											
ATP6AP1	537	genome.wustl.edu	37	chrX	153663637	153663637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggttcattctggccaaccGcctctacccagtgtctgccc	8	17	4	0			TCGA-DX-AB2W-01A-11D-A38Z-09	TCGA-DX-AB2W-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e7a22ef-8718-40eb-a310-51aa9a7cac0f	c2643ccc-1642-43f0-932f-2ec47a0d943b	g.chrX:153663637G>C	ENST00000369762.2	+	9	1050	c.989G>C	c.(988-990)cGc>cCc	p.R330P	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	330					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					CTGGCCAACCGCCTCTACCCA	0.627																																																	0								ENSG00000071553						42	40	41					X																	153663637		2203	4300	6503	ATP6AP1	SO:0001583	missense	0			-	HGNC	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.989G>C	X.37:g.153663637G>C	ENSP00000358777:p.Arg330Pro	Somatic	0	45	0		0.61113239514667				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP							pfam_BIG/ATPase_V1_suS1	p.R330P	ENST00000369762.2	37	c.989	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971227	0.53614	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.69	2.92	0.33932	.	0.201208	0.53938	D	0.000045	T	0.60741	0.2292	L	0.59436	1.845	0.35256	D	0.779187	D;D	0.60160	0.987;0.987	D;D	0.65233	0.933;0.933	T	0.65096	-0.6251	9	0.35671	T	0.21	-1.9201	7.1502	0.25606	0.1653:0.1378:0.697:0.0	.	290;330	B3KR70;Q15904	.;VAS1_HUMAN	P	330;244;154	.	ENSP00000358777:R330P	R	+	2	0	ATP6AP1	153316831	0.079000	0.21365	0.446000	0.26920	0.319000	0.28217	1.521000	0.35910	0.569000	0.29329	-0.223000	0.12442	CGC	-	pfam_BIG/ATPase_V1_suS1		0.627	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	protein_coding	OTTHUMT00000081639.4	G	NM_001183	-		153663637	1	no_errors	ENST00000369762	ensembl	human	known	74_37	missense	SNP	0.999	C	C	153663637	G	C	153663637	3	2	124	1	0	0	0	0	1	0	0	0	1165	1087	38	4	1023	4	ATP6AP1	23	153663637	Missense_Mutation	SNP	G	TCGA-DX-AB2W-01A-11D-A38Z-09	39697781	153663637	1606923	146	9330											
MEGF6	1953	genome.wustl.edu	37	chr1	3425216	3425216	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctgcagtcatcacaggtCaagctgcagtcatggccaaa	9	12	4	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:3425216C>T	ENST00000356575.4	-	13	1792	c.1566G>A	c.(1564-1566)ttG>ttA	p.L522L	MEGF6_ENST00000294599.4_Silent_p.L417L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	522	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATCACAGGTCAAGCTGCAGT	0.627																																					Ovarian(73;978 3658)												0								ENSG00000162591						50	56	54					1																	3425216		2100	4207	6307	MEGF6	SO:0001819	synonymous_variant	0			-	HGNC	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1566G>A	1.37:g.3425216C>T		Somatic	0	103	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	5	81.48	Q4AC86|Q5VV39	Silent	SNP							pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.L522	ENST00000356575.4	37	c.1566	CCDS41237.1	1																																																																																			-	smart_EG-like_dom,pfscan_EG-like_dom		0.627	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	protein_coding	OTTHUMT00000354866.1	C	NM_001409	-		3425216	-1	no_errors	ENST00000356575	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3425216	C	T	3425216	2	4	125	1	0	0	0	0	0	0	0	1	9464	825	29	2		2	MEGF6	1	3425216	Silent	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09		3425216	245825405	1	9331											
CAPZB	832	genome.wustl.edu	37	chr1	19683234	19683234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaatgggcggtgcgaccGctggatttctcctggaagga	15	8	1	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:19683234G>A	ENST00000375142.1	-	6	529	c.483C>T	c.(481-483)agC>agT	p.S161S	CAPZB_ENST00000433834.1_Silent_p.S190S|CAPZB_ENST00000375144.1_Silent_p.S149S|CAPZB_ENST00000264203.3_Silent_p.S187S|CAPZB_ENST00000264202.6_Silent_p.S161S|CAPZB_ENST00000401084.2_Silent_p.S161S	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	161					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CGGTGCGACCGCTGGATTTCT	0.552																																																	0								ENSG00000077549						208	212	211					1																	19683234		2020	4184	6204	CAPZB	SO:0001819	synonymous_variant	0			-	HGNC	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.483C>T	1.37:g.19683234G>A		Somatic	0	59	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP							pfam_CapZ_beta,prints_CapZ_beta	p.S190	ENST00000375142.1	37	c.570	CCDS55579.1	1																																																																																			-	pfam_CapZ_beta		0.552	CAPZB-003	KNOWN	basic|CCDS	protein_coding	CAPZB	protein_coding	OTTHUMT00000007260.1	G		-		19683234	-1	no_errors	ENST00000433834	ensembl	human	known	74_37	silent	SNP	0.976	A	A	19683234	G	A	19683234	2	1	125	1	0	0	0	0	0	0	0	1	2645	1078	38	1		1	CAPZB	1	19683234	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	16258018	19683234	229567387	2	9332											
KDM4A	9682	genome.wustl.edu	37	chr1	44156546	44156546	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctttaatcagaactgtGgaaatgcttcagatttagcc	10	7	2	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:44156546G>T	ENST00000372396.3	+	14	2202	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	690					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TCAGAACTGTGGAAATGCTTC	0.478																																																	0								ENSG00000066135						205	203	204					1																	44156546		2203	4300	6503	KDM4A	SO:0001587	stop_gained	0			-	HGNC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2068G>T	1.37:g.44156546G>T	ENSP00000361473:p.Gly690*	Somatic	0	113	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5VVB1	Nonsense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.G690*	ENST00000372396.3	37	c.2068	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944263	0.92593	.	.	ENSG00000066135	ENST00000372396	.	.	.	5.42	4.31	0.51392	.	1.154180	0.06042	N	0.654987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.6206	8.0835	0.30758	0.149:0.145:0.706:0.0	.	.	.	.	X	690	.	ENSP00000361473:G690X	G	+	1	0	KDM4A	43929133	0.168000	0.22989	0.168000	0.22838	0.246000	0.25737	1.234000	0.32660	2.546000	0.85860	0.557000	0.71058	GGA	-	NULL		0.478	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	protein_coding	OTTHUMT00000019960.1	G	NM_014663	-		44156546	1	no_errors	ENST00000372396	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	44156546	G	T	44156546	4	4	125	1	0	0	0	0	0	1	0	0	8130	1349	47	3	2118	3	KDM4A	1	44156546	Nonsense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	24473312	44156546	205094075	3	9333											
CCDC18	343099	genome.wustl.edu	37	chr1	93691986	93691986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagtttgaaaaacagTtaaagaagaaatctgaagag	10	2	1	5			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:93691986T>G	ENST00000343253.7	+	17	2771	c.2269T>G	c.(2269-2271)Tta>Gta	p.L757V	CCDC18_ENST00000557479.1_Missense_Mutation_p.L876V|CCDC18_ENST00000338949.4_Missense_Mutation_p.L513V|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Missense_Mutation_p.L53V|CCDC18_ENST00000401026.3_Missense_Mutation_p.L758V			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	757										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAAAACAGTTAAAGAAGAA	0.279																																																	0								ENSG00000122483						45	45	45					1																	93691986		1794	4053	5847	CCDC18	SO:0001583	missense	0			-	HGNC			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2269T>G	1.37:g.93691986T>G	ENSP00000343377:p.Leu757Val	Somatic	0	95	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	112	34	76.71	Q6ZU17	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L876V	ENST00000343253.7	37	c.2626		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.49|15.49	2.848408|2.848408	0.51164|0.51164	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267|ENST00000370276	T;T;T;T;T;T|.	0.35973|.	1.28;1.28;1.28;1.28;1.28;1.28|.	5.23|5.23	2.13|2.13	0.27403|0.27403	.|.	0.165528|.	0.41001|.	D|.	0.000967|.	T|T	0.31482|0.31482	0.0798|0.0798	L|L	0.46157|0.46157	1.445|1.445	0.45464|0.45464	D|D	0.998432|0.998432	P;P|.	0.52316|.	0.732;0.952|.	B;P|.	0.47673|.	0.26;0.554|.	T|T	0.14783|0.14783	-1.0460|-1.0460	10|5	0.25106|.	T|.	0.35|.	.|.	4.5895|4.5895	0.12299|0.12299	0.2496:0.5203:0.0:0.23|0.2496:0.5203:0.0:0.23	.|.	757;876|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	V|R	757;758;876;513;53;433|810	ENSP00000343377:L757V;ENSP00000383808:L758V;ENSP00000451099:L876V;ENSP00000344380:L513V;ENSP00000334084:L53V;ENSP00000391151:L433V|.	ENSP00000334084:L53V|.	L|S	+|+	1|3	2|2	CCDC18|CCDC18	93464574|93464574	0.907000|0.907000	0.30839|0.30839	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	-0.072000|-0.072000	0.11486|0.11486	0.670000|0.670000	0.31165|0.31165	-0.248000|-0.248000	0.11899|0.11899	TTA|AGT	-	NULL		0.279	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	protein_coding	OTTHUMT00000382327.1	T	NM_206886	-		93691986	1	no_errors	ENST00000557479	ensembl	human	known	74_37	missense	SNP	0.946	G	G	93691986	T	G	93691986	3	3	125	1	0	0	0	0	1	0	0	0	2796	1722	60	5	2692	5	CCDC18	1	93691986	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09	49535440	93691986	155558635	4	9334											
ALG14	199857	genome.wustl.edu	37	chr1	95492733	95492733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaggagagccacatggaGtgcaaggtggtgaaaacggt	17	5	0	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:95492733G>T	ENST00000370205.5	-	3	418	c.372C>A	c.(370-372)caC>caA	p.H124Q		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	124					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GCCACATGGAGTGCAAGGTGG	0.473																																																	0								ENSG00000172339						91	86	88					1																	95492733		2203	4300	6503	ALG14	SO:0001583	missense	0			-	HGNC		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.372C>A	1.37:g.95492733G>T	ENSP00000359224:p.His124Gln	Somatic	0	84	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A8K030	Missense_Mutation	SNP							pfam_Oligosacch_biosynth_Alg14	p.H124Q	ENST00000370205.5	37	c.372	CCDS752.1	1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292303	0.23564	.	.	ENSG00000172339	ENST00000370205	T	0.75938	-0.98	5.49	1.41	0.22369	.	0.484667	0.22602	N	0.057947	T	0.27205	0.0667	N	0.10837	0.055	0.21256	N	0.999744	B	0.13145	0.007	B	0.06405	0.002	T	0.21965	-1.0230	10	0.29301	T	0.29	-0.0014	5.0344	0.14426	0.318:0.1525:0.5295:0.0	.	124	Q96F25	ALG14_HUMAN	Q	124	ENSP00000359224:H124Q	ENSP00000359224:H124Q	H	-	3	2	ALG14	95265321	1.000000	0.71417	0.349000	0.25694	0.506000	0.33950	0.654000	0.24918	0.361000	0.24292	0.591000	0.81541	CAC	-	pfam_Oligosacch_biosynth_Alg14		0.473	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG14	protein_coding	OTTHUMT00000029699.2	G	NM_144988	-		95492733	-1	no_errors	ENST00000370205	ensembl	human	known	74_37	missense	SNP	0.652	T	T	95492733	G	T	95492733	3	4	125	1	0	0	0	0	1	0	0	0	516	1020	36	3	286	3	ALG14	1	95492733	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	1800747	95492733	153757888	5	9335											
C1orf25	81627	genome.wustl.edu	37	chr1	185097863	185097863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgacagttacaaggcagCtgtctatatgggttttctgt	10	8	2	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:185097863C>T	ENST00000367506.5	-	11	1798	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	TRMT1L_ENST00000367504.3_Missense_Mutation_p.S376N	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	510	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACAAGGCAGCTGTCTATATG	0.333																																																	0								ENSG00000121486						111	118	116					1																	185097863		2203	4300	6503	TRMT1L	SO:0001819	synonymous_variant	0			-	HGNC	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1530G>A	1.37:g.185097863C>T		Somatic	0	35	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP							pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,pfscan_Znf_C2H2	p.S376N	ENST00000367506.5	37	c.1127	CCDS1366.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229801	0.58777	.	.	ENSG00000121486	ENST00000367504	.	.	.	6.06	4.21	0.49690	.	.	.	.	.	T	0.21921	0.0528	.	.	.	0.21064	N	0.999796	.	.	.	.	.	.	T	0.24083	-1.0170	5	0.12766	T	0.61	-13.9234	7.9046	0.29755	0.1303:0.7369:0.0:0.1328	.	.	.	.	N	376	.	ENSP00000356474:S376N	S	-	2	0	TRMT1L	183364486	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.144000	0.50616	0.905000	0.36596	-0.157000	0.13467	AGC	-	NULL		0.333	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1L	protein_coding	OTTHUMT00000085787.1	C	NM_030934	-		185097863	-1	no_errors	ENST00000367504	ensembl	human	known	74_37	missense	SNP	1.000	T	T	185097863	C	T	185097863	2	4	125	1	0	0	0	0	0	0	0	1	2036	796	28	2		2	C1orf25	1	185097863	Silent	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09	89605130	185097863	64152758	6	9336											
TMCC2	9911	genome.wustl.edu	37	chr1	205238479	205238479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggacatgcagcagggGctgaaggacgtgggcgccaa	18	10	0	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:205238479G>A	ENST00000358024.3	+	3	1538	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	TMCC2_ENST00000329800.7_Silent_p.G143G|TMCC2_ENST00000330675.7_Silent_p.G158G|TMCC2_ENST00000545499.1_Silent_p.G305G|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	383						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCAGCAGGGGCTGAAGGACG	0.682																																																	0								ENSG00000133069						24	25	25					1																	205238479		2203	4299	6502	TMCC2	SO:0001819	synonymous_variant	0			-	HGNC	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1149G>A	1.37:g.205238479G>A		Somatic	0	98	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP							pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.G383	ENST00000358024.3	37	c.1149	CCDS30984.1	1																																																																																			-	pfam_Predicted_TM_coiled-coil_2		0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	protein_coding	OTTHUMT00000090383.1	G	NM_014858	-		205238479	1	no_errors	ENST00000358024	ensembl	human	known	74_37	silent	SNP	0.081	A	A	205238479	G	A	205238479	2	1	125	1	0	0	0	0	0	0	0	1	16000	1190	42	2		2	TMCC2	1	205238479	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	20140616	205238479	44012142	7	9337											
ZNF678	339500	genome.wustl.edu	37	chr1	227842949	227842949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaaacttttaatcggtGttcacacctaagtagccata	7	9	1	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:227842949G>T	ENST00000343776.5	+	4	1343	c.998G>T	c.(997-999)tGt>tTt	p.C333F	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.C388F	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTAATCGGTGTTCACACCTA	0.388																																																	0								ENSG00000181450						31	37	35					1																	227842949		2201	4295	6496	ZNF678	SO:0001583	missense	0			-	HGNC	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.998G>T	1.37:g.227842949G>T	ENSP00000344828:p.Cys333Phe	Somatic	0	35	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q8IVQ9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C388F	ENST00000343776.5	37	c.1163		1	.	.	.	.	.	.	.	.	.	.	G	0.621	-0.821121	0.02755	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.39997	1.05;1.05	1.34	-0.185	0.13276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	N	0.11789	0.175	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17561	-1.0365	9	0.40728	T	0.16	.	2.3313	0.04236	0.2585:0.3374:0.4041:0.0	.	333	Q5SXM1	ZN678_HUMAN	F	333;388	ENSP00000344828:C333F;ENSP00000440403:C388F	ENSP00000344828:C333F	C	+	2	0	ZNF678	225909572	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.541000	0.06099	0.596000	0.29794	0.603000	0.83216	TGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	protein_coding	OTTHUMT00000091976.2	G	NM_178549	-		227842949	1	no_errors	ENST00000397097	ensembl	human	known	74_37	missense	SNP	0.000	T	T	227842949	G	T	227842949	3	4	125	1	0	0	0	0	1	0	0	0	18092	1377	48	3	1177	3	ZNF678	1	227842949	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	22604470	227842949	21407672	8	9338											
TRIM58	25893	genome.wustl.edu	37	chr1	248039664	248039664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcttctctggtcttcttcGgccttactttttcatctgtg	6	12	6	0	rs200018732		TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr1:248039664G>T	ENST00000366481.3	+	6	1382	c.1334G>T	c.(1333-1335)cGg>cTg	p.R445L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	445	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTCTTCTTCGGCCTTACTTT	0.428																																																	0								ENSG00000162722						160	156	158					1																	248039664		2203	4300	6503	TRIM58	SO:0001583	missense	0			-	HGNC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1334G>T	1.37:g.248039664G>T	ENSP00000355437:p.Arg445Leu	Somatic	0	114	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	4	81.82	Q6B0H9	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R445L	ENST00000366481.3	37	c.1334	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045657	0.19748	.	.	ENSG00000162722	ENST00000366481	T	0.68181	-0.31	4.05	3.14	0.36123	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000090	T	0.68220	0.2977	M	0.64260	1.97	0.20703	N	0.999867	D	0.56035	0.974	P	0.57204	0.815	T	0.57539	-0.7794	10	0.10636	T	0.68	.	7.8462	0.29426	0.1103:0.0:0.8897:0.0	.	445	Q8NG06	TRI58_HUMAN	L	445	ENSP00000355437:R445L	ENSP00000355437:R445L	R	+	2	0	TRIM58	246106287	0.006000	0.16342	0.900000	0.35374	0.322000	0.28314	1.526000	0.35964	1.313000	0.45069	0.650000	0.86243	CGG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.428	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	protein_coding	OTTHUMT00000096860.1	G	NM_015431	-		248039664	1	no_errors	ENST00000366481	ensembl	human	known	74_37	missense	SNP	0.350	T	T	248039664	G	T	248039664	3	4	125	1	0	0	0	0	1	0	0	0	16538	1116	39	3	1356	3	TRIM58	1	248039664	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	20196715	248039664	1210957	9	9339											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803515	185803515	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagccacaccaacagtTtctttcccaaatcccagctc	4	17	2	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr2:185803515T>A	ENST00000302277.6	+	4	3986	c.3392T>A	c.(3391-3393)tTt>tAt	p.F1131Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1131							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACCAACAGTTTCTTTCCCAA	0.532																																																	0								ENSG00000170396						144	139	141					2																	185803515		2203	4300	6503	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3392T>A	2.37:g.185803515T>A	ENSP00000303252:p.Phe1131Tyr	Somatic	0	38	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.F1131Y	ENST00000302277.6	37	c.3392	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038207	0.54896	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	5.03	5.03	0.67393	.	0.000000	0.49916	D	0.000130	T	0.24005	0.0581	L	0.57536	1.79	0.33030	D	0.530029	D	0.76494	0.999	D	0.78314	0.991	T	0.24657	-1.0154	10	0.72032	D	0.01	-16.832	12.5019	0.55960	0.0:0.0:0.0:1.0	.	1131	Q7Z570	Z804A_HUMAN	Y	1131	ENSP00000303252:F1131Y	ENSP00000303252:F1131Y	F	+	2	0	ZNF804A	185511760	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.333000	0.52090	1.882000	0.54519	0.260000	0.18958	TTT	-	NULL		0.532	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	T	NM_194250	-		185803515	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	1.000	A	A	185803515	T	A	185803515	3	1	125	1	0	0	0	0	1	0	0	0	18177	1841	64	5	3406	5	ZNF804A	2	185803515	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09		185803515	57395858	10	9340											
PASK	23178	genome.wustl.edu	37	chr2	242054559	242054559	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttctccatcacaagctGgaagaacccttggttttcaa	8	11	3	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr2:242054559G>A	ENST00000405260.1	-	14	3930	c.3232C>T	c.(3232-3234)Cag>Tag	p.Q1078*	PASK_ENST00000475666.1_5'Flank|PASK_ENST00000234040.4_Nonsense_Mutation_p.Q1078*|PASK_ENST00000544142.1_Nonsense_Mutation_p.Q892*|PASK_ENST00000358649.4_Nonsense_Mutation_p.Q1078*|PASK_ENST00000539818.1_Nonsense_Mutation_p.Q862*|PASK_ENST00000403638.3_Nonsense_Mutation_p.Q1078*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1078	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATCACAAGCTGGAAGAACCCT	0.488																																																	0								ENSG00000115687						64	70	68					2																	242054559		2203	4300	6503	PASK	SO:0001587	stop_gained	0			-	HGNC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3232C>T	2.37:g.242054559G>A	ENSP00000384016:p.Gln1078*	Somatic	0	24	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS	p.Q1078*	ENST00000405260.1	37	c.3232	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	G	48	14.148800	0.99782	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	5.63	5.63	0.86233	.	0.000000	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6668	0.95895	0.0:0.0:1.0:0.0	.	.	.	.	X	1078;892;1078;1078;862;1078	.	ENSP00000234040:Q1078X	Q	-	1	0	PASK	241703232	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.285000	0.95894	2.650000	0.89964	0.655000	0.94253	CAG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.488	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	protein_coding	OTTHUMT00000323753.1	G	NM_015148	-		242054559	-1	no_errors	ENST00000358649	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	242054559	G	A	242054559	4	1	125	1	0	0	0	0	0	1	0	0	11474	1357	47	2	759	2	PASK	2	242054559	Nonsense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	56251044	242054559	1144814	11	9341											
NEU4	129807	genome.wustl.edu	37	chr2	242756292	242756292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtgacgccggcctctcGtggggcagcgcccgggacct	16	16	1	1	rs367892217	byFrequency	TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr2:242756292G>A	ENST00000391969.2	+	4	1116	c.405G>A	c.(403-405)tcG>tcA	p.S135S	NEU4_ENST00000325935.6_Silent_p.S148S|NEU4_ENST00000404257.1_Silent_p.S147S|NEU4_ENST00000407683.1_Silent_p.S135S|NEU4_ENST00000405370.1_Silent_p.S135S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	135					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCGGCCTCTCGTGGGGCAGCG	0.721													G|||	5	0.000998403	0.003	0.0014	5008	,	,		12955	0		0	False		,,,				2504	0																0								ENSG00000204099	G	,,,,	12,4106		0,12,2047	6	7	7		444,405,405,405,441	-3.2	0	2		7	0,8142		0,0,4071	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	,,,,	0,12,6118	AA,AG,GG		0.0,0.2914,0.0979	,,,,	148/498,135/485,135/485,135/485,147/497	242756292	12,12248	2059	4071	6130	NEU4	SO:0001819	synonymous_variant	0			-	HGNC	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.405G>A	2.37:g.242756292G>A		Somatic	0	105	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	A8K056|J3KNJ5|Q96D64	Silent	SNP							superfamily_Sialidases	p.S148	ENST00000391969.2	37	c.444	CCDS54442.1	2																																																																																			-	superfamily_Sialidases		0.721	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	protein_coding	OTTHUMT00000257270.2	G	NM_080741	-		242756292	1	no_errors	ENST00000325935	ensembl	human	known	74_37	silent	SNP	0.943	A	A	242756292	G	A	242756292	2	1	125	1	0	0	0	0	0	0	0	1	10346	1132	40	1		1	NEU4	2	242756292	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	701733	242756292	443081	12	9342											
TTC21A	199223	genome.wustl.edu	37	chr3	39170278	39170278	+	Frame_Shift_Del	DEL	C	C	-													ggctggagactatccagaggCcataaagacgctgaaaatgg							TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr3:39170278delC	ENST00000431162.2	+	14	1906	c.1772delC	c.(1771-1773)gccfs	p.A591fs	TTC21A_ENST00000440121.1_Frame_Shift_Del_p.A543fs|TTC21A_ENST00000301819.6_Frame_Shift_Del_p.A592fs			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	591										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TATCCAGAGGCCATAAAGACG	0.567																																																	0								ENSG00000168026						126	127	127					3																	39170278		1945	4142	6087	TTC21A	SO:0001589	frameshift_variant	0				HGNC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1772delC	3.37:g.39170278delC	ENSP00000398211:p.Ala591fs	Somatic	0	42	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Frame_Shift_Del	DEL							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I593fs	ENST00000431162.2	37	c.1775	CCDS46800.1	3																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.567	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	protein_coding	OTTHUMT00000377829.1	C	NM_145755			39170278	1	no_errors	ENST00000301819	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	39170278	C	-	39170278	7	5	125	1	0	1	0	1	0	0	0	0	16694	739	26	0	1829	0	TTC21A	3	39170278	Frame_Shift_Del	DEL	C	TCGA-DX-AB2X-01A-11D-A387-09		39170278	158852152	13	9343											
TMF1	7110	genome.wustl.edu	37	chr3	69087758	69087758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacgggcttcttcttggGccttctctaatgctgcagaa	11	11	3	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr3:69087758G>A	ENST00000398559.2	-	8	2324	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V	TMF1_ENST00000543976.1_Missense_Mutation_p.A706V|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	703					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTTCTTGGGCCTTCTCTAA	0.408																																																	0								ENSG00000144747						132	118	122					3																	69087758		1878	4113	5991	TMF1	SO:0001583	missense	0			-	HGNC		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2108C>T	3.37:g.69087758G>A	ENSP00000381567:p.Ala703Val	Somatic	0	100	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP							pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.A706V	ENST00000398559.2	37	c.2117	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622671	0.28889	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.20069	2.1;2.1	5.72	2.68	0.31781	.	0.202373	0.51477	N	0.000084	T	0.15696	0.0378	L	0.38838	1.175	0.47245	D	0.999369	B;B	0.15473	0.013;0.001	B;B	0.15484	0.013;0.004	T	0.06463	-1.0825	10	0.34782	T	0.22	1.2642	9.5589	0.39357	0.2483:0.0:0.7517:0.0	.	706;703	P82094-2;P82094	.;TMF1_HUMAN	V	703;706;619	ENSP00000381567:A703V;ENSP00000438706:A706V	ENSP00000348582:A619V	A	-	2	0	TMF1	69170448	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.933000	0.56545	0.224000	0.20940	0.591000	0.81541	GCC	-	NULL		0.408	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	protein_coding	OTTHUMT00000352106.1	G	NM_007114	-		69087758	-1	no_errors	ENST00000543976	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69087758	G	A	69087758	3	1	125	1	0	0	0	0	1	0	0	0	16235	1203	42	2	1213	2	TMF1	3	69087758	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	29917480	69087758	128934672	14	9344											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119099802	119099802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactggcccgaatccaaaatGttatccaggagcttcctcca	7	13	0	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr3:119099802G>T	ENST00000264245.4	+	4	932	c.400G>T	c.(400-402)Gtt>Ttt	p.V134F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	134	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATCCAAAATGTTATCCAGGA	0.517																																					Pancreas(7;176 297 5394 51128 51241)												0								ENSG00000031081						94	97	96					3																	119099802		2018	4177	6195	ARHGAP31	SO:0001583	missense	0			-	HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.400G>T	3.37:g.119099802G>T	ENSP00000264245:p.Val134Phe	Somatic	0	55	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q9ULL6	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V134F	ENST00000264245.4	37	c.400	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264467	0.80358	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20598	2.06;2.06	5.27	4.4	0.53042	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.175862	0.37393	N	0.002119	T	0.48642	0.1511	M	0.86573	2.825	0.58432	D	0.999992	D	0.60575	0.988	D	0.68765	0.96	T	0.56195	-0.8019	10	0.87932	D	0	.	11.3555	0.49613	0.0825:0.0:0.9175:0.0	.	134	Q2M1Z3	RHG31_HUMAN	F	134;134;105	ENSP00000264245:V134F;ENSP00000418429:V105F	ENSP00000264245:V134F	V	+	1	0	ARHGAP31	120582492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.601000	0.67606	1.459000	0.47892	0.655000	0.94253	GTT	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.517	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	G		-		119099802	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119099802	G	T	119099802	3	4	125	1	0	0	0	0	1	0	0	0	880	1377	48	3	414	3	ARHGAP31	3	119099802	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	50012044	119099802	78922628	15	9345											
TF	7018	genome.wustl.edu	37	chr3	133467272	133467272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagggctgtgtctggctgtCcctgataaaactgtgagatg	13	9	1	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr3:133467272C>T	ENST00000402696.3	+	2	545	c.60C>T	c.(58-60)gtC>gtT	p.V20V	TF_ENST00000264998.3_Intron|TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	20					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GTCTGGCTGTCCCTGATAAAA	0.572																																																	0								ENSG00000091513						130	114	120					3																	133467272		2203	4300	6503	TF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.60C>T	3.37:g.133467272C>T		Somatic	0	71	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	11	69.44	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP							pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.V20	ENST00000402696.3	37	c.60	CCDS3080.1	3																																																																																			-	pirsf_Transferrin		0.572	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	protein_coding	OTTHUMT00000317775.1	C	NM_001063	-		133467272	1	no_errors	ENST00000402696	ensembl	human	known	74_37	silent	SNP	0.003	T	T	133467272	C	T	133467272	2	4	125	1	0	0	0	0	0	0	0	1	15792	842	30	2		2	TF	3	133467272	Silent	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09	14367470	133467272	64555158	16	9346											
SPATA5	166378	genome.wustl.edu	37	chr4	123868616	123868616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcatggatacgttggagcaGacttgaaagtcttgtgtaat	11	6	2	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr4:123868616G>T	ENST00000274008.4	+	9	1756	c.1687G>T	c.(1687-1689)Gac>Tac	p.D563Y	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	563					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGTTGGAGCAGACTTGAAAGT	0.433																																																	0								ENSG00000145375						117	114	115					4																	123868616		2203	4300	6503	SPATA5	SO:0001583	missense	0			-	HGNC	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1687G>T	4.37:g.123868616G>T	ENSP00000274008:p.Asp563Tyr	Somatic	0	45	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.D563Y	ENST00000274008.4	37	c.1687	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062015	0.76187	.	.	ENSG00000145375	ENST00000274008	D	0.95482	-3.72	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98858	0.9614	H	0.98629	4.285	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99211	1.0876	10	0.87932	D	0	-38.7922	19.9462	0.97183	0.0:0.0:1.0:0.0	.	563;563	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	Y	563	ENSP00000274008:D563Y	ENSP00000274008:D563Y	D	+	1	0	SPATA5	124088066	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	8.623000	0.90957	2.717000	0.92951	0.585000	0.79938	GAC	-	superfamily_P-loop_NTPase		0.433	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	protein_coding	OTTHUMT00000256714.2	G	NM_145207	-		123868616	1	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123868616	G	T	123868616	3	4	125	1	0	0	0	0	1	0	0	0	15018	942	33	3	1721	3	SPATA5	4	123868616	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		123868616	67285660	17	9347											
PALLD	23022	genome.wustl.edu	37	chr4	169589400	169589400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tattcaaatccactgtgaggGaggggacctccataccctga	10	11	1	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr4:169589400G>T	ENST00000505667.1	+	3	1141	c.968G>T	c.(967-969)gGa>gTa	p.G323V	PALLD_ENST00000261509.6_Missense_Mutation_p.G323V|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.G200V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	323	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CACTGTGAGGGAGGGGACCTC	0.507									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0								ENSG00000129116						139	125	129					4																	169589400		2203	4300	6503	PALLD	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	-	HGNC	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.968G>T	4.37:g.169589400G>T	ENSP00000425556:p.Gly323Val	Somatic	0	63	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G323V	ENST00000505667.1	37	c.968	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911719	0.52439	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.77	5.77	0.91146	.	0.498364	0.14859	U	0.294208	T	0.60521	0.2275	L	0.33792	1.035	0.58432	D	0.999993	D;D	0.76494	0.999;0.962	D;P	0.70935	0.971;0.805	T	0.52764	-0.8532	10	0.30078	T	0.28	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	323;323	B7ZMM5;B2RTX2	.;.	V	323;323;302;200	ENSP00000261509:G323V;ENSP00000425556:G323V;ENSP00000423063:G302V;ENSP00000328945:G200V	ENSP00000261509:G323V	G	+	2	0	PALLD	169825975	1.000000	0.71417	0.069000	0.20011	0.006000	0.05464	6.034000	0.70933	2.724000	0.93272	0.561000	0.74099	GGA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.507	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	protein_coding	OTTHUMT00000363762.1	G	NM_016081	-		169589400	1	no_errors	ENST00000261509	ensembl	human	known	74_37	missense	SNP	0.961	T	T	169589400	G	T	169589400	3	4	125	1	0	0	0	0	1	0	0	0	11409	1174	41	3	974	3	PALLD	4	169589400	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	45720784	169589400	21564876	18	9348											
EBF1	1879	genome.wustl.edu	37	chr5	158500455	158500465	+	Frame_Shift_Del	DEL	TTCTTGTCACA	TTCTTGTCACA	-													catttcggttgccacagcttTtcttgtcacaacagcggcta							TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	TTCTTGTCACA	TTCTTGTCACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr5:158500455_158500465delTTCTTGTCACA	ENST00000313708.6	-	6	775_785	c.493_503delTGTGACAAGAA	c.(493-504)tgtgacaagaaafs	p.CDKK165fs	EBF1_ENST00000517373.1_Frame_Shift_Del_p.CDKK165fs|EBF1_ENST00000380654.4_Intron|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	165					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACAGCTTTTCTTGTCACAACAGCGGCTA	0.408			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0								ENSG00000164330																																			EBF1	SO:0001589	frameshift_variant	0				HGNC	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.493_503delTGTGACAAGAA	5.37:g.158500455_158500465delTTCTTGTCACA	ENSP00000322898:p.Cys165fs	Somatic					0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8IW11	Frame_Shift_Del	DEL							pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.C165fs	ENST00000313708.6	37	c.503_493	CCDS4343.1	5																																																																																			-	NULL		0.408	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	protein_coding	OTTHUMT00000252649.1	TTCTTGTCACA	NM_024007			158500465	-1	no_errors	ENST00000313708	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	158500465	TTCTTGTCACA	-	158500455	7	5	125	1	0	1	0	1	0	0	0	0	4882	1841	64	0	1316	0	EBF1	5	158500455	Frame_Shift_Del	DEL	TTCTTGTCACA	TCGA-DX-AB2X-01A-11D-A387-09		158500455	22414805	19	9349											
NKX2-5	1482	genome.wustl.edu	37	chr5	172661847	172661847	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaggcagacgcacacttGgccggtgaaggcgcgcggcc	17	12	0	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr5:172661847G>T	ENST00000329198.4	-	1	513	c.240C>A	c.(238-240)gcC>gcA	p.A80A	NKX2-5_ENST00000521848.1_Silent_p.A80A|NKX2-5_ENST00000424406.2_Silent_p.A80A	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	80	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACGCACACTTGGCCGGTGAAG	0.701																																					Esophageal Squamous(72;810 1219 2387 13420 44943)												0								ENSG00000183072						17	19	18					5																	172661847		2198	4291	6489	NKX2-5	SO:0001819	synonymous_variant	0			-	HGNC	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.240C>A	5.37:g.172661847G>T		Somatic	0	77	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K3K0|B4DNB6|E9PBU6	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A80	ENST00000329198.4	37	c.240	CCDS4387.1	5																																																																																			-	NULL		0.701	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	protein_coding	OTTHUMT00000252942.2	G		-		172661847	-1	no_errors	ENST00000329198	ensembl	human	known	74_37	silent	SNP	0.997	T	T	172661847	G	T	172661847	2	4	125	1	0	0	0	0	0	0	0	1	10455	1335	47	3		3	NKX2-5	5	172661847	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	14161392	172661847	8253413	20	9350											
LY6G6F	259215	genome.wustl.edu	37	chr6	31675750	31675750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgacctggcaggaagGgaagggtcccgtgaggggcc	18	10	1	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr6:31675750G>C	ENST00000375832.4	+	3	507	c.485G>C	c.(484-486)gGg>gCg	p.G162A	LY6G6F_ENST00000556581.1_Missense_Mutation_p.G162A|MEGT1_ENST00000503322.1_Missense_Mutation_p.G162A|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TGGCAGGAAGGGAAGGGTCCC	0.627																																																	0								ENSG00000204424						93	91	92					6																	31675750		1511	2709	4220	LY6G6F	SO:0001583	missense	0			-	HGNC		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.485G>C	6.37:g.31675750G>C	ENSP00000364992:p.Gly162Ala	Somatic	0	55	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	26	40.91	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G162A	ENST00000375832.4	37	c.485	CCDS34403.1	6	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533105	0.45073	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.38077	1.51;1.16;1.51	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000006	T	0.49558	0.1564	M	0.66939	2.045	0.31948	N	0.610082	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53627	-0.8412	10	0.87932	D	0	-19.8165	14.8659	0.70416	0.0:0.0:1.0:0.0	.	162;162	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	A	162	ENSP00000452432:G162A;ENSP00000364992:G162A;ENSP00000421232:G162A	ENSP00000364992:G162A	G	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783729	0.997000	0.39634	0.979000	0.43373	0.446000	0.32137	1.941000	0.40233	2.596000	0.87737	0.591000	0.81541	GGG	-	NULL		0.627	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	protein_coding	OTTHUMT00000076532.2	G	NM_001003693	-		31675750	1	no_errors	ENST00000556581	ensembl	human	known	74_37	missense	SNP	0.991	C	C	31675750	G	C	31675750	3	2	125	1	0	0	0	0	1	0	0	0	9098	1232	43	4	495	4	LY6G6F	6	31675750	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		31675750	139439317	21	9351											
COL11A2	1302	genome.wustl.edu	37	chr6	33157162	33157162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcggtaggccacatcaGctggacagatgcctttcgct	10	14	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr6:33157162G>A	ENST00000374708.4	-	2	425	c.167C>T	c.(166-168)gCt>gTt	p.A56V	COL11A2_ENST00000374712.1_Missense_Mutation_p.A56V|COL11A2_ENST00000395197.1_Missense_Mutation_p.A56V|COL11A2_ENST00000374713.1_Missense_Mutation_p.A56V|COL11A2_ENST00000361917.1_Missense_Mutation_p.A56V|COL11A2_ENST00000395194.1_Missense_Mutation_p.A56V|COL11A2_ENST00000341947.2_Missense_Mutation_p.A56V|COL11A2_ENST00000374714.1_Missense_Mutation_p.A56V|COL11A2_ENST00000357486.1_Missense_Mutation_p.A56V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	56					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)			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						GGCCACATCAGCTGGACAGAT	0.642																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						81	68	72					6																	33157162		1511	2709	4220	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.167C>T	6.37:g.33157162G>A	ENSP00000363840:p.Ala56Val	Somatic	0	62	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A56V	ENST00000374708.4	37	c.167	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285040	0.59867	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02032	4.49;4.49;4.49;4.49;4.49;4.49;4.49;4.49;4.49;4.49	4.19	1.18	0.20946	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.360241	0.25011	N	0.033831	T	0.00724	0.0024	L	0.43923	1.385	0.20975	N	0.999817	B;B;B;P	0.34662	0.209;0.069;0.069;0.462	B;B;B;B	0.26094	0.053;0.025;0.025;0.066	T	0.49762	-0.8905	10	0.45353	T	0.12	.	8.8008	0.34907	0.0:0.305:0.5379:0.1571	.	56;56;56;56	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	V	56	ENSP00000363840:A56V;ENSP00000339915:A56V;ENSP00000350079:A56V;ENSP00000363846:A56V;ENSP00000363845:A56V;ENSP00000378623:A56V;ENSP00000363844:A56V;ENSP00000355123:A56V;ENSP00000405520:A56V;ENSP00000378620:A56V	ENSP00000339915:A56V	A	-	2	0	COL11A2	33265140	0.158000	0.22850	0.113000	0.21522	0.949000	0.60115	2.794000	0.47853	0.099000	0.17552	0.501000	0.49751	GCT	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	G		-		33157162	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	0.495	A	A	33157162	G	A	33157162	3	1	125	1	0	0	0	0	1	0	0	0	3670	971	34	2	5378	2	COL11A2	6	33157162	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	1481412	33157162	137957905	22	9352											
PPIL6	285755	genome.wustl.edu	37	chr6	109721356	109721356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tactcctcttttattatgagGaactgaaaagttttcatcta	5	7	3	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr6:109721356G>T	ENST00000521072.2	-	7	1286	c.706C>A	c.(706-708)Cct>Act	p.P236T	PPIL6_ENST00000440797.2_Missense_Mutation_p.P262T|PPIL6_ENST00000424445.2_Missense_Mutation_p.P204T	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	236	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TTATTATGAGGAACTGAAAAG	0.363																																																	0								ENSG00000185250						81	72	75					6																	109721356		2203	4300	6503	PPIL6	SO:0001583	missense	0			-	HGNC		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.706C>A	6.37:g.109721356G>T	ENSP00000427929:p.Pro236Thr	Somatic	0	79	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.P236T	ENST00000521072.2	37	c.706	CCDS5074.1	6	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286386	0.40494	.	.	ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.89	4.07	0.47477	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.205175	0.42682	D	0.000664	T	0.14917	0.0360	N	0.12569	0.235	0.36424	D	0.864484	B;B;P	0.37688	0.121;0.056;0.605	B;B;B	0.40782	0.155;0.217;0.34	T	0.07616	-1.0763	10	0.56958	D	0.05	-6.1538	9.5744	0.39447	0.0746:0.0:0.7812:0.1442	.	262;204;236	A9NIU9;E7EX15;Q8IXY8	.;.;PPIL6_HUMAN	T	204;262;236;193	ENSP00000407731:P204T;ENSP00000392257:P262T;ENSP00000427929:P236T;ENSP00000411731:P193T	ENSP00000411731:P193T	P	-	1	0	PPIL6	109828049	1.000000	0.71417	0.878000	0.34440	0.949000	0.60115	4.703000	0.61824	1.447000	0.47661	0.655000	0.94253	CCT	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.363	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	protein_coding	OTTHUMT00000089003.4	G		-		109721356	-1	no_errors	ENST00000521072	ensembl	human	known	74_37	missense	SNP	0.818	T	T	109721356	G	T	109721356	3	4	125	1	0	0	0	0	1	0	0	0	12336	1174	41	3	237	3	PPIL6	6	109721356	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	76564194	109721356	61393711	23	9353											
WBSCR22	114049	genome.wustl.edu	37	chr7	73112209	73112209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcaagcgcaagccccGcttctaagtcaccacgcggt	11	17	2	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr7:73112209G>A	ENST00000265758.2	+	12	897	c.839G>A	c.(838-840)cGc>cAc	p.R280H	WBSCR22_ENST00000423497.1_Missense_Mutation_p.R297H|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000484736.1_5'Flank	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	280					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGCAAGCCCCGCTTCTAAGTC	0.458																																																	0								ENSG00000071462						53	56	55					7																	73112209		2203	4300	6503	WBSCR22	SO:0001583	missense	0			-	HGNC	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"metastasis-related methyltransferase 1"	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.839G>A	7.37:g.73112209G>A	ENSP00000265758:p.Arg280His	Somatic	0	132	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	77	26.67	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP							pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11	p.R280H	ENST00000265758.2	37	c.839	CCDS5557.1	7	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478176	0.44044	.	.	ENSG00000071462	ENST00000265758;ENST00000423497	T;T	0.48522	0.83;0.81	6.08	0.183	0.15082	.	0.582707	0.18861	N	0.129124	T	0.40570	0.1122	L	0.60455	1.87	0.80722	D	1	B;B	0.25312	0.123;0.018	B;B	0.24394	0.053;0.036	T	0.28138	-1.0053	10	0.48119	T	0.1	-20.5154	9.7358	0.40386	0.5069:0.0:0.4931:0.0	.	297;280	C9K060;O43709	.;WBS22_HUMAN	H	280;297	ENSP00000265758:R280H;ENSP00000401191:R297H	ENSP00000265758:R280H	R	+	2	0	WBSCR22	72750145	0.011000	0.17503	0.994000	0.49952	0.617000	0.37484	-0.049000	0.11924	0.093000	0.17368	0.655000	0.94253	CGC	-	pfam_Unchr_MeTrfase_Williams-Beuren		0.458	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR22	protein_coding	OTTHUMT00000252303.1	G		-		73112209	1	no_errors	ENST00000265758	ensembl	human	known	74_37	missense	SNP	0.997	A	A	73112209	G	A	73112209	3	1	125	1	0	0	0	0	1	0	0	0	17272	1087	38	1	885	1	WBSCR22	7	73112209	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		73112209	86026454	24	9354											
SMURF1	57154	genome.wustl.edu	37	chr7	98633223	98633223	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctcctttcttcatcgaaCgtctccaccgcttgccagaa	6	17	3	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr7:98633223C>A	ENST00000361125.1	-	17	2323	c.2004G>T	c.(2002-2004)acG>acT	p.T668T	SMURF1_ENST00000361368.2_Silent_p.T642T|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	668	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CTTCATCGAACGTCTCCACCG	0.567																																																	0								ENSG00000198742						126	111	116					7																	98633223		2203	4300	6503	SMURF1	SO:0001819	synonymous_variant	0			-	HGNC	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.2004G>T	7.37:g.98633223C>A		Somatic	0	56	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	10	73.68	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.T668	ENST00000361125.1	37	c.2004	CCDS34690.1	7																																																																																			-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.567	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	protein_coding	OTTHUMT00000335001.2	C	NM_020429	-		98633223	-1	no_errors	ENST00000361125	ensembl	human	known	74_37	silent	SNP	0.954	A	A	98633223	C	A	98633223	2	1	125	1	0	0	0	0	0	0	0	1	14827	523	19	3		3	SMURF1	7	98633223	Silent	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09	25521014	98633223	60505440	25	9355											
SLC26A4	5172	genome.wustl.edu	37	chr7	107330649	107330649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accactgctctttcccgcacGgccgtccaggagagcactgg	11	16	1	1	rs371756312		TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr7:107330649G>A	ENST00000265715.3	+	10	1454	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	410			T -> M (in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport). {ECO:0000269|PubMed:10700480, ECO:0000269|PubMed:11748854, ECO:0000269|PubMed:11919333, ECO:0000269|PubMed:12676893, ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:9618167}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTCCCGCACGGCCGTCCAGG	0.493									Pendred syndrome																																								0								ENSG00000091137						131	121	124					7																	107330649		2203	4300	6503	SLC26A4	SO:0001819	synonymous_variant	0	Familial Cancer Database	Goiter-Deafness syndrome	-	HGNC	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1230G>A	7.37:g.107330649G>A		Somatic	0	34	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	B7Z266|O43170	Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T410	ENST00000265715.3	37	c.1230	CCDS5746.1	7																																																																																			-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.493	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	protein_coding	OTTHUMT00000337148.1	G	NM_000441	-		107330649	1	no_errors	ENST00000265715	ensembl	human	known	74_37	silent	SNP	0.001	A	A	107330649	G	A	107330649	2	1	125	1	0	0	0	0	0	0	0	1	14527	1103	39	1		1	SLC26A4	7	107330649	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	8697426	107330649	51808014	26	9356											
ANK1	286	genome.wustl.edu	37	chr8	41545745	41545745	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgctctgtcccactgagaGaacctggggagaagcattag	12	11	1	3			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr8:41545745G>T	ENST00000347528.4	-	35	4270	c.4187C>A	c.(4186-4188)tCt>tAt	p.S1396Y	ANK1_ENST00000265709.8_Missense_Mutation_p.S1437Y|ANK1_ENST00000352337.4_Missense_Mutation_p.S1396Y|ANK1_ENST00000289734.7_Missense_Mutation_p.S1396Y|ANK1_ENST00000379758.2_Missense_Mutation_p.S1396Y|ANK1_ENST00000396945.1_Missense_Mutation_p.S1396Y|ANK1_ENST00000396942.1_Missense_Mutation_p.S1396Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1396	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCCACTGAGAGAACCTGGGGA	0.552																																																	0								ENSG00000029534						203	175	185					8																	41545745		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4187C>A	8.37:g.41545745G>T	ENSP00000339620:p.Ser1396Tyr	Somatic	0	52	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S1396Y	ENST00000347528.4	37	c.4187	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.831|6.831	0.522556|0.522556	0.13066|0.13066	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.66815	.|-0.22;-0.23;-0.2;-0.18;-0.2;-0.19;-0.22	5.64|5.64	1.9|1.9	0.25705|0.25705	.|Death (1);DEATH-like (1);	.|0.534254	.|0.20973	.|N	.|0.082356	T|T	0.57272|0.57272	0.2042|0.2042	L|L	0.47716|0.47716	1.5|1.5	0.41383|0.41383	D|D	0.98756|0.98756	.|B;B;B;B;B;B	.|0.22541	.|0.039;0.071;0.001;0.068;0.011;0.03	.|B;B;B;B;B;B	.|0.36534	.|0.156;0.056;0.005;0.227;0.099;0.075	T|T	0.49835|0.49835	-0.8897|-0.8897	5|10	.|0.37606	.|T	.|0.19	.|.	2.339|2.339	0.04255|0.04255	0.4245:0.0:0.3496:0.2259|0.4245:0.0:0.3496:0.2259	.|.	.|1437;1396;1396;1396;1396;712	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	L|Y	717|1396;1396;1396;1396;1396;1396;1437;1396	.|ENSP00000339620:S1396Y;ENSP00000289734:S1396Y;ENSP00000369082:S1396Y;ENSP00000380149:S1396Y;ENSP00000380147:S1396Y;ENSP00000309131:S1396Y;ENSP00000265709:S1437Y	.|ENSP00000265709:S1437Y	F|S	-|-	3|2	2|0	ANK1|ANK1	41664902|41664902	0.717000|0.717000	0.27966|0.27966	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	2.731000|2.731000	0.47343|0.47343	0.389000|0.389000	0.25086|0.25086	-0.404000|-0.404000	0.06349|0.06349	TTC|TCT	-	superfamily_DEATH-like_dom,smart_Death_domain		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	G	NM_020475	-		41545745	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	0.041	T	T	41545745	G	T	41545745	3	4	125	1	0	0	0	0	1	0	0	0	620	942	33	3	1816	3	ANK1	8	41545745	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		41545745	104818277	27	9357											
TRPA1	8989	genome.wustl.edu	37	chr8	72975032	72975032	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatatagaatatgaagagttAcctccactgggtctatttgt	8	6	1	3			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr8:72975032A>T	ENST00000262209.4	-	6	1015		c.e6+1			NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGAAGAGTTACCTCCACTGG	0.363																																																	0								ENSG00000104321						115	107	110					8																	72975032		2203	4300	6503	TRPA1	SO:0001630	splice_region_variant	0			-	HGNC	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.807+1T>A	8.37:g.72975032A>T		Somatic	0	52	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	A6NIN6	Splice_Site	SNP							-	e6+2	ENST00000262209.4	37	c.807+2	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235463	0.22626	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.62	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8246	0.52259	0.9304:0.0:0.0696:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPA1	73137586	1.000000	0.71417	0.803000	0.32268	0.071000	0.16799	5.143000	0.64826	0.909000	0.36697	0.528000	0.53228	.	-	-		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	protein_coding	OTTHUMT00000379079.2	A	NM_007332	-	Intron	72975032	-1	no_errors	ENST00000262209	ensembl	human	known	74_37	splice_site	SNP	0.998	T	T	72975032	A	T	72975032	5	4	125	1	0	0	0	0	0	0	1	0	16584	405	14	5	2638	5	TRPA1	8	72975032	Splice_Site	SNP	A	TCGA-DX-AB2X-01A-11D-A387-09	31429287	72975032	73388990	28	9358											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767256	77767256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcgctctcggcactggaAtgaaggaaagcaggcaggtt	13	9	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr8:77767256A>G	ENST00000521891.2	+	10	8547	c.8099A>G	c.(8098-8100)aAt>aGt	p.N2700S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2655S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2674S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2655S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2655					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)			CGGCACTGGAATGAAGGAAAG	0.502										HNSCC(33;0.089)																																							0								ENSG00000091656						60	59	59					8																	77767256		1948	4145	6093	ZFHX4	SO:0001583	missense	0			-	HGNC		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.8099A>G	8.37:g.77767256A>G	ENSP00000430497:p.Asn2700Ser	Somatic	0	52	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	76	30.91	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.N2700S	ENST00000521891.2	37	c.8099	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	9.341	1.063002	0.19987	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.78	5.18	4.04	0.47022	Zinc finger, C2H2 (1);	0.000000	0.47455	U	0.000235	T	0.46249	0.1383	L	0.40543	1.245	0.41414	D	0.987758	B;B;P	0.50528	0.124;0.196;0.936	B;B;P	0.50896	0.127;0.25;0.653	T	0.32455	-0.9906	10	0.33141	T	0.24	.	10.7116	0.45986	0.9256:0.0:0.0744:0.0	.	2655;2655;2700	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2700;2684;2655;2655;2674	ENSP00000430497:N2700S;ENSP00000399605:N2655S;ENSP00000050961:N2655S;ENSP00000430848:N2674S	ENSP00000050961:N2655S	N	+	2	0	ZFHX4	77929811	1.000000	0.71417	0.986000	0.45419	0.084000	0.17831	6.144000	0.71762	1.004000	0.39156	0.454000	0.30748	AAT	-	pfscan_Znf_C2H2		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	A	NM_024721	-		77767256	1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77767256	A	G	77767256	3	3	125	1	0	0	0	0	1	0	0	0	17642	101	4	5	8133	5	ZFHX4	8	77767256	Missense_Mutation	SNP	A	TCGA-DX-AB2X-01A-11D-A387-09	4792224	77767256	68596766	29	9359											
SCRIB	23513	genome.wustl.edu	37	chr8	144894510	144894510	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcggtcacctcgcacaGccgattctggtctaccttta	9	15	3	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr8:144894510G>T	ENST00000320476.3	-	9	838	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.L197M|SCRIB_ENST00000356994.2_Missense_Mutation_p.L278M	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	278	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)			ACCTCGCACAGCCGATTCTGG	0.592																																					Pancreas(51;966 1133 10533 14576 29674)												0								ENSG00000180900						142	121	128					8																	144894510		2203	4300	6503	SCRIB	SO:0001583	missense	0			-	HGNC	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.832C>A	8.37:g.144894510G>T	ENSP00000322938:p.Leu278Met	Somatic	0	86	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP							pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L278M	ENST00000320476.3	37	c.832	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899787	0.33535	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.61510	1.66;0.1;1.29	4.21	1.44	0.22558	.	.	.	.	.	T	0.65471	0.2694	M	0.69185	2.1	0.45662	D	0.998589	P;D	0.53312	0.616;0.959	B;P	0.58210	0.178;0.835	T	0.63976	-0.6515	9	0.87932	D	0	.	8.1302	0.31022	0.2659:0.0:0.7341:0.0	.	278;278	Q14160;Q14160-3	SCRIB_HUMAN;.	M	278;278;197	ENSP00000349486:L278M;ENSP00000322938:L278M;ENSP00000366756:L197M	ENSP00000322938:L278M	L	-	1	2	SCRIB	144966498	1.000000	0.71417	0.239000	0.24122	0.003000	0.03518	3.759000	0.55227	0.088000	0.17205	0.563000	0.77884	CTG	-	NULL		0.592	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	protein_coding	OTTHUMT00000382215.1	G	NM_015356	-		144894510	-1	no_errors	ENST00000320476	ensembl	human	known	74_37	missense	SNP	0.925	T	T	144894510	G	T	144894510	3	4	125	1	0	0	0	0	1	0	0	0	13945	962	34	3	4251	3	SCRIB	8	144894510	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	67127254	144894510	1469512	30	9360											
TTF1	7270	genome.wustl.edu	37	chr9	135267466	135267466	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctgccacttacgacTgctgatctgtgagaacttga	13	9	1	3			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr9:135267466T>G	ENST00000334270.2	-	6	2023	c.1984A>C	c.(1984-1986)Agt>Cgt	p.S662R		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	662	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACTTACGACTGCTGATCTGT	0.542																																																	0								ENSG00000125482						71	65	67					9																	135267466		2203	4300	6503	TTF1	SO:0001583	missense	0			-	HGNC	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1984A>C	9.37:g.135267466T>G	ENSP00000333920:p.Ser662Arg	Somatic	0	52	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S662R	ENST00000334270.2	37	c.1984	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	T	11.25	1.583621	0.28268	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.41065	1.01	5.77	-0.952	0.10366	SANT domain, DNA binding (1);Homeodomain-like (1);MYB-like (1);	0.880477	0.09861	N	0.746193	T	0.42585	0.1209	L	0.43152	1.355	0.09310	N	1	D	0.64830	0.994	P	0.60789	0.879	T	0.31779	-0.9931	10	0.19590	T	0.45	.	3.0135	0.06052	0.2902:0.2517:0.0:0.458	.	662	Q15361	TTF1_HUMAN	R	662	ENSP00000333920:S662R	ENSP00000245588:S662R	S	-	1	0	TTF1	134257287	0.045000	0.20229	0.000000	0.03702	0.143000	0.21401	0.589000	0.23939	-0.419000	0.07439	-0.290000	0.09829	AGT	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.542	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	protein_coding	OTTHUMT00000054784.2	T	NM_007344	-		135267466	-1	no_errors	ENST00000334270	ensembl	human	known	74_37	missense	SNP	0.000	G	G	135267466	T	G	135267466	3	3	125	1	0	0	0	0	1	0	0	0	16725	1580	55	5	757	5	TTF1	9	135267466	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09		135267466	5945965	31	9361											
NACC2	138151	genome.wustl.edu	37	chr9	138903668	138903668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgaacacctgtgccgcGgcaggcgggaactcggggtc	16	13	0	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr9:138903668G>A	ENST00000371753.1	-	5	1516	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A	NACC2_ENST00000277554.2_Silent_p.A486A			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	486					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCTGTGCCGCGGCAGGCGGGA	0.677																																																	0								ENSG00000148411						8	8	8					9																	138903668		2160	4188	6348	NACC2	SO:0001819	synonymous_variant	0			-	HGNC	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"BEN domain containing", "BTB/POZ domain containing"	23846	protein-coding gene	gene with protein product	"BEN domain containing 9"	615786	"BTB (POZ) domain containing 14A"	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1458C>T	9.37:g.138903668G>A		Somatic	0	44	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75		Silent	SNP							pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A486	ENST00000371753.1	37	c.1458	CCDS6993.1	9																																																																																			-	NULL		0.677	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACC2	protein_coding	OTTHUMT00000055040.1	G	NM_144653	-		138903668	-1	no_errors	ENST00000277554	ensembl	human	known	74_37	silent	SNP	0.021	A	A	138903668	G	A	138903668	2	1	125	1	0	0	0	0	0	0	0	1	10138	1103	39	1		1	NACC2	9	138903668	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	3636202	138903668	2309763	32	9362											
SVIL	6840	genome.wustl.edu	37	chr10	29756774	29756774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtattgtgactttgctGctactatgcagtcctgcttc	9	10	0	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr10:29756774G>T	ENST00000355867.4	-	33	6626	c.5874C>A	c.(5872-5874)agC>agA	p.S1958R	PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.S1958R|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S872R|SVIL_ENST00000375400.3_Missense_Mutation_p.S1532R|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1958					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACTTTGCTGCTACTATGCA	0.478																																																	0								ENSG00000197321						135	119	124					10																	29756774		2203	4300	6503	SVIL	SO:0001583	missense	0			-	HGNC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5874C>A	10.37:g.29756774G>T	ENSP00000348128:p.Ser1958Arg	Somatic	0	40	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S1958R	ENST00000355867.4	37	c.5874	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298969	0.81025	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.77313	2.365	0.80722	D	1	D;P;P	0.67145	0.996;0.732;0.613	D;P;P	0.71656	0.974;0.556;0.453	T	0.66610	-0.5880	10	0.66056	D	0.02	-19.8514	11.4377	0.50078	0.1453:0.0:0.8547:0.0	.	872;1532;1958	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	R	1532;1958;1958;872	ENSP00000364549:S1532R;ENSP00000364547:S1958R;ENSP00000348128:S1958R;ENSP00000445472:S872R	ENSP00000348128:S1958R	S	-	3	2	SVIL	29796780	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.607000	0.67648	1.435000	0.47434	0.650000	0.86243	AGC	-	smart_Villin/Gelsolin		0.478	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	protein_coding	OTTHUMT00000047395.1	G		-		29756774	-1	no_errors	ENST00000355867	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29756774	G	T	29756774	3	4	125	1	0	0	0	0	1	0	0	0	15428	1310	46	3	794	3	SVIL	10	29756774	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		29756774	105777973	33	9363											
RET	5979	genome.wustl.edu	37	chr10	43615162	43615162	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcatttgcctggcagatctCacaggggatgcagtatctgg	12	10	3	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr10:43615162C>A	ENST00000355710.3	+	14	2808	c.2576C>A	c.(2575-2577)tCa>tAa	p.S859*	RET_ENST00000340058.5_Nonsense_Mutation_p.S859*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	859	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		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)	TGGCAGATCTCACAGGGGATG	0.657		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)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0								ENSG00000165731						60	51	54					10																	43615162		2203	4300	6503	RET	SO:0001587	stop_gained	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	-	HGNC	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.2576C>A	10.37:g.43615162C>A	ENSP00000347942:p.Ser859*	Somatic	0	71	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Nonsense_Mutation	SNP							pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.S859*	ENST00000355710.3	37	c.2576	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.993139	0.99029	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0766	0.93165	0.0:1.0:0.0:0.0	.	.	.	.	X	859	.	ENSP00000344798:S859X	S	+	2	0	RET	42935168	1.000000	0.71417	0.976000	0.42696	0.774000	0.43823	7.807000	0.86032	2.518000	0.84900	0.313000	0.20887	TCA	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.657	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	protein_coding	OTTHUMT00000047694.2	C	NM_020975	-		43615162	1	no_errors	ENST00000355710	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	43615162	C	A	43615162	4	1	125	1	0	0	0	0	0	1	0	0	13243	838	29	3	2630	3	RET	10	43615162	Nonsense_Mutation	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09	13858388	43615162	91919585	34	9364											
MGEA5	10724	genome.wustl.edu	37	chr10	103558659	103558659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactatttgctcgaagccaTtgaaattcccgtaacatctg	6	11	1	1	rs369547430		TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr10:103558659T>C	ENST00000361464.3	-	9	2144	c.1749A>G	c.(1747-1749)caA>caG	p.Q583Q	MGEA5_ENST00000439817.1_Silent_p.Q530Q|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Silent_p.Q583Q|MGEA5_ENST00000357797.5_Silent_p.Q530Q	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	583					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCGAAGCCATTGAAATTCCC	0.453																																																	0								ENSG00000198408	T	,	0,4406		0,0,2203	144	139	140		1590,1749	4	1	10		140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MGEA5	NM_001142434.1,NM_012215.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	530/864,583/917	103558659	1,13005	2203	4300	6503	MGEA5	SO:0001819	synonymous_variant	0			-	HGNC	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1749A>G	10.37:g.103558659T>C		Somatic	0	49	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	35	54.55	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP							pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.Q583	ENST00000361464.3	37	c.1749	CCDS7520.1	10																																																																																			-	NULL		0.453	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	protein_coding	OTTHUMT00000049987.1	T	NM_012215	-		103558659	-1	no_errors	ENST00000361464	ensembl	human	known	74_37	silent	SNP	1.000	C	C	103558659	T	C	103558659	2	2	125	1	0	0	0	0	0	0	0	1	9557	1490	52	5		5	MGEA5	10	103558659	Silent	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09	59943497	103558659	31976088	35	9365											
OR51Q1	390061	genome.wustl.edu	37	chr11	5444355	5444355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggggaatgttaaatttcCtttccctcaaaaatatgcat	6	7	1	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr11:5444355C>T	ENST00000300778.4	+	1	1015	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTAAATTTCCTTTCCCTCAA	0.398																																																	0								ENSG00000167360						42	42	42					11																	5444355		2201	4297	6498	OR51Q1	SO:0001583	missense	0			-	HGNC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.925C>T	11.37:g.5444355C>T	ENSP00000300778:p.Leu309Phe	Somatic	0	23	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	B2RNN1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L309F	ENST00000300778.4	37	c.925	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	C	4.565	0.105037	0.08731	.	.	ENSG00000167360	ENST00000300778	T	0.42131	0.98	5.0	-3.19	0.05171	.	0.460979	0.18208	N	0.148299	T	0.14917	0.0360	N	0.13043	0.29	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.30592	-0.9973	10	0.02654	T	1	.	4.3765	0.11272	0.2446:0.3496:0.0:0.4058	.	309	Q8NH59	O51Q1_HUMAN	F	309	ENSP00000300778:L309F	ENSP00000300778:L309F	L	+	1	0	OR51Q1	5400931	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.147000	0.01293	-0.424000	0.07382	0.380000	0.24917	CTT	-	NULL		0.398	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	protein_coding	OTTHUMT00000143373.1	C	NM_001004757	-		5444355	1	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	SNP	0.000	T	T	5444355	C	T	5444355	3	4	125	1	0	0	0	0	1	0	0	0	11106	681	24	2	927	2	OR51Q1	11	5444355	Missense_Mutation	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09		5444355	129562161	36	9366											
MADD	8567	genome.wustl.edu	37	chr11	47333317	47333317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgcaagaaggtgaggcGcctaatgggaaagtcgcaca	13	10	0	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr11:47333317G>A	ENST00000311027.5	+	29	4358	c.4193G>A	c.(4192-4194)cGc>cAc	p.R1398H	MADD_ENST00000406482.1_Missense_Mutation_p.R1296H|MADD_ENST00000407859.3_Missense_Mutation_p.R1316H|MADD_ENST00000342922.4_Missense_Mutation_p.R1339H|MADD_ENST00000402799.1_Missense_Mutation_p.R1296H|MADD_ENST00000402192.2_Missense_Mutation_p.R1338H|MADD_ENST00000395344.3_Missense_Mutation_p.R1292H|MADD_ENST00000405573.2_Missense_Mutation_p.R208H|MADD_ENST00000395336.3_Missense_Mutation_p.R1398H|MADD_ENST00000349238.3_Missense_Mutation_p.R1359H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAGGTGAGGCGCCTAATGGGA	0.498																																																	0								ENSG00000110514						110	99	103					11																	47333317		2201	4298	6499	MADD	SO:0001583	missense	0			-	HGNC	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4193G>A	11.37:g.47333317G>A	ENSP00000310933:p.Arg1398His	Somatic	0	73	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Missense_Mutation	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R1398H	ENST00000311027.5	37	c.4193	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.194850	0.94960	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.61040	2.62;2.45;2.47;2.58;2.57;2.47;2.49;2.58;2.61;0.14	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.66297	2.02	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.964;0.983;0.999;0.993;0.993;0.993;0.999;0.998;0.997;0.998	T	0.78548	-0.2162	10	0.87932	D	0	-11.9969	18.6155	0.91302	0.0:0.0:1.0:0.0	.	208;1292;1292;1398;1296;1296;1296;1359;1316;1398;1339	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	1339;1296;1296;1296;1359;1398;1316;1292;1398;1338;208	ENSP00000343902:R1339H;ENSP00000385585:R1296H;ENSP00000384435:R1296H;ENSP00000304505:R1359H;ENSP00000310933:R1398H;ENSP00000384204:R1316H;ENSP00000378753:R1292H;ENSP00000378745:R1398H;ENSP00000384287:R1338H;ENSP00000384483:R208H	ENSP00000310933:R1398H	R	+	2	0	MADD	47289893	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.329000	0.96413	2.378000	0.81104	0.563000	0.77884	CGC	-	NULL		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	protein_coding	OTTHUMT00000317746.1	G		-		47333317	1	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47333317	G	A	47333317	3	1	125	1	0	0	0	0	1	0	0	0	9154	1087	38	1	4303	1	MADD	11	47333317	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	41888962	47333317	87673199	37	9367											
MS4A14	84689	genome.wustl.edu	37	chr11	60183891	60183891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatagaagaaaatcctcaAgacggcattccttaaaccag	6	11	1	3			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr11:60183891A>G	ENST00000300187.6	+	5	1727	c.1450A>G	c.(1450-1452)Aga>Gga	p.R484G	MS4A14_ENST00000395005.2_Missense_Mutation_p.R467G|MS4A14_ENST00000531787.1_Missense_Mutation_p.R372G|MS4A14_ENST00000531783.1_Missense_Mutation_p.R517G	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	484	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAAATCCTCAAGACGGCATTC	0.393																																																	0								ENSG00000166928						80	82	81					11																	60183891		2203	4300	6503	MS4A14	SO:0001583	missense	0			-	HGNC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1450A>G	11.37:g.60183891A>G	ENSP00000300187:p.Arg484Gly	Somatic	0	20	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	9	66.67	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP							pfam_CD20-like	p.R484G	ENST00000300187.6	37	c.1450	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024721	0.35701	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.38560	1.13;2.31;1.13;2.69	4.13	1.77	0.24775	.	2.940030	0.01067	N	0.004746	T	0.39145	0.1067	L	0.52573	1.65	0.09310	N	1	P;P	0.50819	0.939;0.9	B;B	0.42916	0.402;0.227	T	0.26155	-1.0111	10	0.51188	T	0.08	-1.0233	2.7685	0.05328	0.6562:0.0:0.1193:0.2245	.	467;484	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	G	372;484;467;517	ENSP00000437222:R372G;ENSP00000300187:R484G;ENSP00000378453:R467G;ENSP00000433761:R517G	ENSP00000300187:R484G	R	+	1	2	MS4A14	59940467	0.003000	0.15002	0.002000	0.10522	0.004000	0.04260	1.517000	0.35867	0.667000	0.31107	0.528000	0.53228	AGA	-	NULL		0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	protein_coding	OTTHUMT00000395383.2	A		-		60183891	1	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	SNP	0.000	G	G	60183891	A	G	60183891	3	3	125	1	0	0	0	0	1	0	0	0	9860	64	3	5	1468	5	MS4A14	11	60183891	Missense_Mutation	SNP	A	TCGA-DX-AB2X-01A-11D-A387-09	12850574	60183891	74822625	38	9368											
ANKRD49	54851	genome.wustl.edu	37	chr11	94230119	94230120	+	Splice_Site	INS	-	-	A													gctgctgaaaaaaatcgggtINSaaaaaaaaaaattacagagg							TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr11:94230119_94230120insA	ENST00000544612.1	+	2	755		c.e2+2		ANKRD49_ENST00000302755.4_Splice_Site|ANKRD49_ENST00000544253.1_Frame_Shift_Ins_p.VK87fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.VK87fs	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATCGGGTAAAAAAAAAAA	0.396																																					Melanoma(113;823 1621 4352 9582 22033)												0								ENSG00000168876																																			ANKRD49	SO:0001630	splice_region_variant	0				HGNC	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.258+2->A	11.37:g.94230130_94230130dupA		Somatic	0	26	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Ins	INS							NULL	p.K91fs	ENST00000544612.1	37	c.260_261	CCDS8300.1	11																																																																																			-	NULL		0.396	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	protein_coding	OTTHUMT00000396314.2	-	NM_017704		Intron	94230120	1	no_errors	ENST00000534911	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	94230120	-	A	94230119	8	5	125	1	0	1	1	0	0	0	1	0	675	1652	57	0	262	0	ANKRD49	11	94230119	Splice_Site	INS	-	TCGA-DX-AB2X-01A-11D-A387-09	34046228	94230119	40776397	39	9369											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18491389	18491390	+	Frame_Shift_Ins	INS	-	-	A													ataatattattgaagaagttINSaaaaaaatatgcagtgttct							TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr12:18491389_18491390insA	ENST00000266497.5	+	8	1340_1341	c.1302_1303insA	c.(1303-1305)aaafs	p.K435fs	PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.K435fs|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.K435fs|PIK3C2G_ENST00000433979.1_Frame_Shift_Ins_p.K435fs			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	435					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGAAGAAGTTAAAAAAATATG	0.312																																																	0								ENSG00000139144																																			PIK3C2G	SO:0001589	frameshift_variant	0				HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1309dupA	12.37:g.18491396_18491396dupA	ENSP00000266497:p.Lys435fs	Somatic	0	50	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	103	12.71	A1L3U0	Frame_Shift_Ins	INS							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.I436fs	ENST00000266497.5	37	c.1302_1303	CCDS44839.1	12																																																																																			-	NULL		0.312	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	-	NM_004570			18491390	1	no_errors	ENST00000538779	ensembl	human	known	74_37	frame_shift_ins	INS	0.996:0.999	A	A	18491390	-	A	18491389	7	5	125	1	0	1	1	0	0	0	0	0	11913	1741	61	0	1332	0	PIK3C2G	12	18491389	Frame_Shift_Ins	INS	-	TCGA-DX-AB2X-01A-11D-A387-09		18491389	115360506	40	9370											
H1FNT	341567	genome.wustl.edu	37	chr12	48723491	48723491	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcgcgaggcaagaggaGggcacgcgcgctccctggag	19	12	0	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr12:48723491G>C	ENST00000335017.1	+	1	729	c.417G>C	c.(415-417)gaG>gaC	p.E139D		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	139	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGCAAGAGGAGGGCACGCGCG	0.726																																																	0								ENSG00000187166						9	13	12					12																	48723491		2184	4254	6438	H1FNT	SO:0001583	missense	0			-	HGNC	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.417G>C	12.37:g.48723491G>C	ENSP00000334805:p.Glu139Asp	Somatic	0	14	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	1	88.89	Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP							NULL	p.E139D	ENST00000335017.1	37	c.417	CCDS8762.1	12	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598772	0.28445	.	.	ENSG00000187166	ENST00000335017	T	0.19806	2.12	4.83	1.93	0.25924	.	0.952142	0.08513	N	0.934607	T	0.15392	0.0371	L	0.39898	1.24	0.09310	N	1	B	0.18013	0.025	B	0.21917	0.037	T	0.38972	-0.9636	10	0.18710	T	0.47	-11.3038	3.8943	0.09133	0.2808:0.1848:0.5344:0.0	.	139	Q75WM6	H1FNT_HUMAN	D	139	ENSP00000334805:E139D	ENSP00000334805:E139D	E	+	3	2	H1FNT	47009758	0.716000	0.27956	0.001000	0.08648	0.002000	0.02628	1.854000	0.39368	0.556000	0.29098	-0.172000	0.13284	GAG	-	NULL		0.726	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FNT	protein_coding	OTTHUMT00000406516.1	G	NM_181788	-		48723491	1	no_errors	ENST00000335017	ensembl	human	known	74_37	missense	SNP	0.000	C	C	48723491	G	C	48723491	3	2	125	1	0	0	0	0	1	0	0	0	6923	991	35	4	419	4	H1FNT	12	48723491	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	30232102	48723491	85128404	41	9371											
OR6C76	390326	genome.wustl.edu	37	chr12	55820114	55820114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgcaggttgtgatttTctcgttcctatttcttacgt	8	9	2	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr12:55820114T>C	ENST00000328314.3	+	1	77	c.77T>C	c.(76-78)tTc>tCc	p.F26S		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTTGTGATTTTCTCGTTCCTA	0.418																																																	0								ENSG00000185821						168	162	164					12																	55820114		2203	4300	6503	OR6C76	SO:0001583	missense	0			-	HGNC		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.77T>C	12.37:g.55820114T>C	ENSP00000328402:p.Phe26Ser	Somatic	0	50	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	6	86.05		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F26S	ENST00000328314.3	37	c.77	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	t	16.81	3.225932	0.58668	.	.	ENSG00000185821	ENST00000328314	T	0.04551	3.6	4.35	4.35	0.52113	.	0.000000	0.44688	U	0.000423	T	0.15046	0.0363	M	0.83692	2.655	0.30245	N	0.794666	P	0.50528	0.936	P	0.50270	0.636	T	0.03761	-1.1006	10	0.72032	D	0.01	.	13.6441	0.62270	0.0:0.0:0.0:1.0	.	26	A6NM76	O6C76_HUMAN	S	26	ENSP00000328402:F26S	ENSP00000328402:F26S	F	+	2	0	OR6C76	54106381	0.751000	0.28327	0.077000	0.20336	0.028000	0.11728	1.506000	0.35747	1.945000	0.56424	0.487000	0.48397	TTC	-	prints_GPCR_Rhodpsn		0.418	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	protein_coding	OTTHUMT00000406675.1	T	NM_001005183	-		55820114	1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	SNP	0.865	C	C	55820114	T	C	55820114	3	2	125	1	0	0	0	0	1	0	0	0	11202	1783	62	5	79	5	OR6C76	12	55820114	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09	7096623	55820114	78031781	42	9372											
C12orf64	283310	genome.wustl.edu	37	chr12	80672001	80672001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagctgcccatgtatttGgaaagattgggagtatctct	11	6	1	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr12:80672001G>T	ENST00000547103.1	+	24	2714	c.2708G>T	c.(2707-2709)tGg>tTg	p.W903L	OTOGL_ENST00000458043.2_Missense_Mutation_p.W903L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	903					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATGTATTTGGAAAGATTGG	0.373																																																	0								ENSG00000165899																																			OTOGL	SO:0001583	missense	0			-	HGNC	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2708G>T	12.37:g.80672001G>T	ENSP00000447211:p.Trp903Leu	Somatic	0	41	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.09	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.W903L	ENST00000547103.1	37	c.2708		12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778578	0.90195	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15256	2.44;2.44	5.11	5.11	0.69529	.	.	.	.	.	T	0.23094	0.0558	N	0.26092	0.79	0.80722	D	1	.	.	.	.	.	.	T	0.01436	-1.1355	7	0.36615	T	0.2	.	18.8898	0.92395	0.0:0.0:1.0:0.0	.	.	.	.	L	903	ENSP00000447211:W903L;ENSP00000400895:W903L	ENSP00000400895:W903L	W	+	2	0	OTOGL	79196132	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.827000	0.92041	2.538000	0.85594	0.591000	0.81541	TGG	-	NULL		0.373	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	G	NM_173591	-		80672001	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	SNP	1.000	T	T	80672001	G	T	80672001	3	4	125	1	0	0	0	0	1	0	0	0	1709	1357	47	3	2802	3	C12orf64	12	80672001	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	24851887	80672001	53179894	43	9373											
GLT8D2	83468	genome.wustl.edu	37	chr12	104396990	104396990	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgttgctgtagatgctattGatggcagccatagtggcacc	13	8	0	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr12:104396990G>T	ENST00000360814.4	-	5	612	c.207C>A	c.(205-207)atC>atA	p.I69I	GLT8D2_ENST00000548660.1_Silent_p.I69I|GLT8D2_ENST00000546436.1_Silent_p.I69I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	69						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGATGCTATTGATGGCAGCCA	0.468																																																	0								ENSG00000120820						221	176	191					12																	104396990		2203	4300	6503	GLT8D2	SO:0001819	synonymous_variant	0			-	HGNC	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.207C>A	12.37:g.104396990G>T		Somatic	0	63	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	8	80.95	Q96KA2	Silent	SNP							pfam_Glyco_trans_8	p.I69	ENST00000360814.4	37	c.207	CCDS9096.1	12																																																																																			-	pfam_Glyco_trans_8		0.468	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	protein_coding	OTTHUMT00000407371.1	G	NM_031302	-		104396990	-1	no_errors	ENST00000360814	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104396990	G	T	104396990	2	4	125	1	0	0	0	0	0	0	0	1	6472	1280	45	3		3	GLT8D2	12	104396990	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	23724989	104396990	29454905	44	9374											
LMO7	4008	genome.wustl.edu	37	chr13	76429454	76429454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattctgggcaaaggagccGccatgatcatcgagtccctg	11	12	2	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr13:76429454G>A	ENST00000321797.8	+	27	4742	c.4021G>A	c.(4021-4023)Gcc>Acc	p.A1341T	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.A1218T|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000341547.4_Missense_Mutation_p.A1292T			Q8WWI1	LMO7_HUMAN	LIM domain 7	1626					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAAGGAGCCGCCATGATCAT	0.488																																																	0								ENSG00000136153						152	127	136					13																	76429454		2203	4300	6503	LMO7	SO:0001583	missense	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.4021G>A	13.37:g.76429454G>A	ENSP00000317802:p.Ala1341Thr	Somatic	0	69	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP							pfam_CH-domain,pfam_PDZ,pfam_Znf_LIM,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,pfscan_PDZ,prints_SM22_calponin	p.A1292T	ENST00000321797.8	37	c.3874		13	.	.	.	.	.	.	.	.	.	.	G	36	5.940733	0.97128	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	D;D;D	0.87334	-2.24;-2.24;-2.24	5.99	5.99	0.97316	.	0.051380	0.85682	D	0.000000	D	0.94801	0.8321	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94700	0.7882	10	0.87932	D	0	-15.5751	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1218;1292	E9PMS6;Q8WWI1-3	.;.	T	1292;1341;1218	ENSP00000342112:A1292T;ENSP00000317802:A1341T;ENSP00000431129:A1218T	ENSP00000317802:A1341T	A	+	1	0	LMO7	75327455	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GCC	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.488	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	G	NM_005358	-		76429454	1	no_errors	ENST00000341547	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76429454	G	A	76429454	3	1	125	1	0	0	0	0	1	0	0	0	8857	1087	38	1	4994	1	LMO7	13	76429454	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		76429454	38740424	45	9375											
CTAGE5	4253	genome.wustl.edu	37	chr14	39790147	39790147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccagagcattccccatatgGtccctcaccattgggttggc	9	14	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr14:39790147G>C	ENST00000280083.3	+	19	1873	c.1559G>C	c.(1558-1560)gGt>gCt	p.G520A	CTAGE5_ENST00000396158.2_Missense_Mutation_p.G525A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.G491A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.G491A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.G520A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.G508A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.G491A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.G440A|CTAGE5_ENST00000348007.3_Intron|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.G1055A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.G445A			O15320	CTGE5_HUMAN	CTAGE family, member 5	520	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCCCCATATGGTCCCTCACCA	0.423																																																	0								ENSG00000150527						129	135	133					14																	39790147		2203	4300	6503	CTAGE5	SO:0001583	missense	0			-	HGNC	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1559G>C	14.37:g.39790147G>C	ENSP00000280083:p.Gly520Ala	Somatic	0	77	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	8	79.49	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP							NULL	p.G525A	ENST00000280083.3	37	c.1574	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785910	0.70337	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	T;T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.95	5.05	0.67936	.	0.000000	0.35407	N	0.003229	T	0.57932	0.2087	L	0.59436	1.845	0.44142	D	0.996931	B;B;B;B	0.22541	0.071;0.039;0.039;0.022	B;B;B;B	0.32624	0.149;0.106;0.106;0.106	T	0.53899	-0.8373	9	.	.	.	.	15.4115	0.74929	0.0:0.1384:0.8616:0.0	.	482;525;520;508	F8W9E1;O15320-5;O15320;G3XAC5	.;.;CTGE5_HUMAN;.	A	1055;508;440;482;491;520;525;520;445;491	ENSP00000452252:G1055A;ENSP00000343897:G508A;ENSP00000450869:G440A;ENSP00000379468:G491A;ENSP00000339286:G520A;ENSP00000379462:G525A;ENSP00000280083:G520A;ENSP00000452562:G445A;ENSP00000450449:G491A	.	G	+	2	0	CTAGE5;RP11-407N17.3	38859898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.590000	0.67530	1.486000	0.48398	0.655000	0.94253	GGT	-	NULL		0.423	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	protein_coding	OTTHUMT00000276771.2	G	NM_005930	-		39790147	1	no_errors	ENST00000396158	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39790147	G	C	39790147	3	2	125	1	0	0	0	0	1	0	0	0	3996	1261	44	4	1664	4	CTAGE5	14	39790147	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		39790147	67559393	46	9376											
PAPOLA	10914	genome.wustl.edu	37	chr14	97022235	97022235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgtgaccaacatacaGgctactgaagtttctgtgcc	9	11	2	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr14:97022235G>T	ENST00000216277.8	+	18	1936	c.1716G>T	c.(1714-1716)caG>caT	p.Q572H	PAPOLA_ENST00000392990.2_Missense_Mutation_p.Q572H	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	572	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAACATACAGGCTACTGAAG	0.353																																					NSCLC(19;254 734 11908 35501 39234)												0								ENSG00000090060						87	90	89					14																	97022235		2203	4300	6503	PAPOLA	SO:0001583	missense	0			-	HGNC	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1716G>T	14.37:g.97022235G>T	ENSP00000216277:p.Gln572His	Somatic	0	81	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP							pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.Q572H	ENST00000216277.8	37	c.1716	CCDS9946.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.48|19.48	3.835009|3.835009	0.71373|0.71373	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626|ENST00000556459	.|.	.|.	.|.	5.81|5.81	4.89|4.89	0.63831|0.63831	.|.	0.205182|.	0.44902|.	D|.	0.000416|.	T|T	0.70254|0.70254	0.3203|0.3203	M|M	0.63843|0.63843	1.955|1.955	0.49130|0.49130	D|D	0.999758|0.999758	P;P;P|.	0.49783|.	0.928;0.855;0.855|.	P;P;P|.	0.50440|.	0.641;0.459;0.459|.	T|T	0.69778|0.69778	-0.5053|-0.5053	9|5	0.33940|.	T|.	0.23|.	.|.	14.3689|14.3689	0.66826|0.66826	0.0737:0.0:0.9263:0.0|0.0737:0.0:0.9263:0.0	.|.	588;588;572|.	F5H5I8;B4DYF4;P51003|.	.;.;PAPOA_HUMAN|.	H|M	572;588;572;322|73	.|.	ENSP00000216277:Q572H|.	Q|R	+|+	3|2	2|0	PAPOLA|PAPOLA	96091988|96091988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.009000|4.009000	0.57110|0.57110	1.531000|1.531000	0.49152|0.49152	0.655000|0.655000	0.94253|0.94253	CAG|AGG	-	pirsf_PolyA_polymerase		0.353	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	protein_coding	OTTHUMT00000413411.2	G		-		97022235	1	no_errors	ENST00000216277	ensembl	human	known	74_37	missense	SNP	1.000	T	T	97022235	G	T	97022235	3	4	125	1	0	0	0	0	1	0	0	0	11431	991	35	3	1786	3	PAPOLA	14	97022235	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	57232088	97022235	10327305	47	9377											
MAP1A	4130	genome.wustl.edu	37	chr15	43820411	43820411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctctcctctccaatcTgccacgacctgcctcaccag	6	21	4	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr15:43820411T>A	ENST00000300231.5	+	4	7190	c.6740T>A	c.(6739-6741)cTg>cAg	p.L2247Q	MAP1A_ENST00000399453.1_Missense_Mutation_p.L2247Q|MAP1A_ENST00000382031.1_Missense_Mutation_p.L2485Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2247					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCTCCAATCTGCCACGACCT	0.607																																																	0								ENSG00000166963						63	69	67					15																	43820411		1931	4115	6046	MAP1A	SO:0001583	missense	0			-	HGNC	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6740T>A	15.37:g.43820411T>A	ENSP00000300231:p.Leu2247Gln	Somatic	0	143	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.38	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP							NULL	p.L2247Q	ENST00000300231.5	37	c.6740	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944658	0.34283	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01725	4.67;4.67;4.67	4.56	4.56	0.56223	.	0.000000	0.27802	N	0.017781	T	0.05318	0.0141	L	0.36672	1.1	0.37034	D	0.896842	D	0.76494	0.999	D	0.76575	0.988	T	0.58047	-0.7705	10	0.28530	T	0.3	-4.6459	12.6407	0.56709	0.0:0.0:0.0:1.0	.	2247	P78559	MAP1A_HUMAN	Q	2485;2247;2247	ENSP00000371462:L2485Q;ENSP00000382380:L2247Q;ENSP00000300231:L2247Q	ENSP00000300231:L2247Q	L	+	2	0	MAP1A	41607703	1.000000	0.71417	0.679000	0.29978	0.970000	0.65996	1.921000	0.40035	1.911000	0.55334	0.459000	0.35465	CTG	-	NULL		0.607	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	protein_coding	OTTHUMT00000132894.5	T	NM_002373	-		43820411	1	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	SNP	0.972	A	A	43820411	T	A	43820411	3	1	125	1	0	0	0	0	1	0	0	0	9229	1580	55	5	6742	5	MAP1A	15	43820411	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09		43820411	58710981	48	9378											
ACAN	176	genome.wustl.edu	37	chr15	89381937	89381937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcccccaaccgtccccGctgagggtcctcctggggac	11	18	0	1	rs367956651		TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr15:89381937G>A	ENST00000561243.1	+	2	114	c.114G>A	c.(112-114)ccG>ccA	p.P38P	ACAN_ENST00000559004.1_Silent_p.P38P|ACAN_ENST00000352105.7_Silent_p.P38P|ACAN_ENST00000439576.2_Silent_p.P38P|ACAN_ENST00000558207.1_Silent_p.P38P			P16112	PGCA_HUMAN	aggrecan	38	Ig-like V-type.				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)			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)			AACCGTCCCCGCTGAGGGTCC	0.622																																																	0								ENSG00000157766	A	,	3,4007		0,3,2002	107	117	114		114,114	-9.9	0	15		114	0,8328		0,0,4164	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	0,3,6166	AA,AG,GG		0.0,0.0748,0.0243	,	38/2432,38/2531	89381937	3,12335	2005	4164	6169	ACAN	SO:0001819	synonymous_variant	0			-	HGNC	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.114G>A	15.37:g.89381937G>A		Somatic	0	88	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P38	ENST00000561243.1	37	c.114	CCDS53970.1	15																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	G	NM_001135	-		89381937	1	no_errors	ENST00000439576	ensembl	human	known	74_37	silent	SNP	0.000	A	A	89381937	G	A	89381937	2	1	125	1	0	0	0	0	0	0	0	1	117	1074	38	1		1	ACAN	15	89381937	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	45561526	89381937	13149455	49	9379											
CDYL2	124359	genome.wustl.edu	37	chr16	80719022	80719022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtctacaatccttTcaacctgcgatacaagatga	5	12	3	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr16:80719022T>C	ENST00000570137.2	-	2	184	c.29A>G	c.(28-30)gAa>gGa	p.E10G	CDYL2_ENST00000562812.1_Missense_Mutation_p.E10G|CDYL2_ENST00000566173.1_Missense_Mutation_p.E10G|CDYL2_ENST00000563890.1_Missense_Mutation_p.E10G|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	10	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TACAATCCTTTCAACCTGCGA	0.483																																																	0								ENSG00000166446						88	78	82					16																	80719022		2203	4297	6500	CDYL2	SO:0001583	missense	0			-	HGNC	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.29A>G	16.37:g.80719022T>C	ENSP00000476295:p.Glu10Gly	Somatic	0	24	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	Q7Z5I8	Missense_Mutation	SNP							pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.E10G	ENST00000570137.2	37	c.29	CCDS32493.1	16	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439747	0.83885	.	.	ENSG00000166446	ENST00000299564	T	0.58210	0.35	5.08	5.08	0.68730	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86231	0.1637	10	0.87932	D	0	.	14.1946	0.65662	0.0:0.0:0.0:1.0	.	10	Q8N8U2	CDYL2_HUMAN	G	10	ENSP00000299564:E10G	ENSP00000299564:E10G	E	-	2	0	CDYL2	79276523	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.757000	0.85209	2.131000	0.65755	0.533000	0.62120	GAA	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow		0.483	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	protein_coding	OTTHUMT00000434727.2	T	NM_152342	-		80719022	-1	no_errors	ENST00000570137	ensembl	human	known	74_37	missense	SNP	1.000	C	C	80719022	T	C	80719022	3	2	125	1	0	0	0	0	1	0	0	0	3188	1783	62	5	1515	5	CDYL2	16	80719022	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09		80719022	9635731	50	9380											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578	ENSG00000141510						50	50	50					17																	7578406		2203	4300	6503	TP53	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;	-	HGNC	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic	0	30	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	3	85.71	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	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);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs28934578		7578406	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7578406	C	T	7578406	3	4	125	1	0	0	0	0	1	0	0	0	16388	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09		7578406	73616804	51	9381											
NF1	4763	genome.wustl.edu	37	chr17	29664854	29664854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcatgcatgagagatatTccaacgtgcaagtggctgga	13	7	0	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr17:29664854T>G	ENST00000358273.4	+	44	7043	c.6660T>G	c.(6658-6660)atT>atG	p.I2220M	NF1_ENST00000417592.2_Missense_Mutation_p.S6A|NF1_ENST00000444181.2_Missense_Mutation_p.S6A|NF1_ENST00000356175.3_Missense_Mutation_p.I2199M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2220					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.?(3)	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)		TGAGAGATATTCCAACGTGCA	0.313			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000196712						71	71	71					17																	29664854		2202	4300	6502	NF1	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.6660T>G	17.37:g.29664854T>G	ENSP00000351015:p.Ile2220Met	Somatic	0	67	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	14	63.16	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.I2220M	ENST00000358273.4	37	c.6660	CCDS42292.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.184987|2.184987	0.38609|0.38609	.|.	.|.	ENSG00000196712|ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735|ENST00000444181;ENST00000417592	T;T;T|T	0.34275|0.44083	1.37;1.37;1.37|0.93	5.65|5.65	3.42|3.42	0.39159|0.39159	Armadillo-type fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44477|0.44477	0.1295|0.1295	L|L	0.52573|0.52573	1.65|1.65	0.22142|0.22142	N|N	0.999338|0.999338	D;P|.	0.60575|.	0.988;0.459|.	D;B|.	0.72338|.	0.977;0.358|.	T|T	0.36212|0.36212	-0.9757|-0.9757	10|7	0.46703|0.72032	T|D	0.11|0.01	.|.	8.5992|8.5992	0.33734|0.33734	0.0:0.2732:0.0:0.7268|0.0:0.2732:0.0:0.7268	.|.	2199;2220|.	P21359-2;P21359|.	.;NF1_HUMAN|.	M|A	2220;2199;1865|6	ENSP00000351015:I2220M;ENSP00000348498:I2199M;ENSP00000389907:I1865M|ENSP00000396481:S6A	ENSP00000348498:I2199M|ENSP00000398991:S6A	I|S	+|+	3|1	3|0	NF1|NF1	26688980|26688980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.401000|1.401000	0.34589|0.34589	1.081000|1.081000	0.41110|0.41110	0.460000|0.460000	0.39030|0.39030	ATT|TCC	-	superfamily_ARM-type_fold		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	T	NM_000267	-		29664854	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29664854	T	G	29664854	3	3	125	1	0	0	0	0	1	0	0	0	10358	1771	62	5	6895	5	NF1	17	29664854	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09	22086448	29664854	51530356	52	9382											
ARL4D	379	genome.wustl.edu	37	chr17	41477378	41477378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgctcttatacccgccGgacagacggtctagtgtttg	13	11	2	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr17:41477378G>T	ENST00000320033.4	+	2	485	c.278G>T	c.(277-279)cGg>cTg	p.R93L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	93					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TATACCCGCCGGACAGACGGT	0.652																																																	0								ENSG00000175906						66	70	69					17																	41477378		2203	4300	6503	ARL4D	SO:0001583	missense	0			-	HGNC	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.278G>T	17.37:g.41477378G>T	ENSP00000322628:p.Arg93Leu	Somatic	0	66	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B2RC59|D3DX43	Missense_Mutation	SNP							pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R93L	ENST00000320033.4	37	c.278	CCDS11463.1	17	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415363	0.42817	.	.	ENSG00000175906	ENST00000320033	D	0.82344	-1.6	4.89	3.91	0.45181	Small GTP-binding protein domain (1);	0.068673	0.56097	D	0.000022	T	0.75627	0.3875	L	0.38838	1.175	0.45899	D	0.998743	P	0.35139	0.486	B	0.37780	0.258	T	0.76394	-0.2975	10	0.87932	D	0	-12.7824	8.7832	0.34804	0.0834:0.1551:0.7615:0.0	.	93	P49703	ARL4D_HUMAN	L	93	ENSP00000322628:R93L	ENSP00000322628:R93L	R	+	2	0	ARL4D	38832904	1.000000	0.71417	0.914000	0.36105	0.006000	0.05464	7.724000	0.84798	1.395000	0.46643	0.563000	0.77884	CGG	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom		0.652	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4D	protein_coding	OTTHUMT00000453481.2	G	NM_001661	-		41477378	1	no_errors	ENST00000320033	ensembl	human	known	74_37	missense	SNP	0.996	T	T	41477378	G	T	41477378	3	4	125	1	0	0	0	0	1	0	0	0	938	1116	39	3	280	3	ARL4D	17	41477378	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	11812524	41477378	39717832	53	9383											
TNRC6C	57690	genome.wustl.edu	37	chr17	76047369	76047369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactataacaataaaactgtAaacatgtgggatagaaacaa	6	5	0	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr17:76047369A>G	ENST00000588061.1	+	5	2953	c.2226A>G	c.(2224-2226)gtA>gtG	p.V742V	TNRC6C_ENST00000301624.4_Silent_p.V742V|TNRC6C_ENST00000588847.1_Silent_p.V742V|TNRC6C_ENST00000541771.1_Silent_p.V742V|TNRC6C_ENST00000544502.1_Silent_p.V742V|TNRC6C_ENST00000335749.4_Silent_p.V742V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	742	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ATAAAACTGTAAACATGTGGG	0.517																																																	0								ENSG00000078687						33	33	33					17																	76047369		1939	4060	5999	TNRC6C	SO:0001819	synonymous_variant	0			-	HGNC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2226A>G	17.37:g.76047369A>G		Somatic	0	59	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	55	46.08	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP							pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V742	ENST00000588061.1	37	c.2226	CCDS45798.1	17																																																																																			-	NULL		0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	protein_coding	OTTHUMT00000395947.1	A	NM_018996	-		76047369	1	no_errors	ENST00000335749	ensembl	human	known	74_37	silent	SNP	0.996	G	G	76047369	A	G	76047369	2	3	125	1	0	0	0	0	0	0	0	1	16349	349	13	5		5	TNRC6C	17	76047369	Silent	SNP	A	TCGA-DX-AB2X-01A-11D-A387-09	34569991	76047369	5147841	54	9384											
CPAMD8	27151	genome.wustl.edu	37	chr19	17036138	17036138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagccaaacggcagccGcaggaggttgttgaggtggt	15	10	0	1	rs370777148		TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr19:17036138G>A	ENST00000443236.1	-	26	3587	c.3556C>T	c.(3556-3558)Cgg>Tgg	p.R1186W		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1139						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AACGGCAGCCGCAGGAGGTTG	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		22264	0		0	False		,,,				2504	0																0								ENSG00000160111						79	84	83					19																	17036138		1974	4150	6124	CPAMD8	SO:0001583	missense	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3556C>T	19.37:g.17036138G>A	ENSP00000402505:p.Arg1186Trp	Somatic	0	78	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	17	59.52	Q8NC09|Q9ULD7	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.R1186W	ENST00000443236.1	37	c.3556	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700522	0.48307	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.84	2.84	0.33178	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	0.085770	0.46758	U	0.000278	T	0.78572	0.4304	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80966	-0.1146	9	0.87932	D	0	.	10.6397	0.45586	0.0:0.0:0.8079:0.192	.	1139	Q8IZJ3	CPMD8_HUMAN	W	1186	.	ENSP00000291440:R1186W	R	-	1	2	CPAMD8	16897138	0.998000	0.40836	0.989000	0.46669	0.814000	0.46013	0.713000	0.25794	1.121000	0.41925	0.561000	0.74099	CGG	-	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase		0.547	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	G	NM_015692	-		17036138	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	SNP	0.983	A	A	17036138	G	A	17036138	3	1	125	1	0	0	0	0	1	0	0	0	3797	1086	38	1	2310	1	CPAMD8	19	17036138	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		17036138	42092845	55	9385											
ETV2	2116	genome.wustl.edu	37	chr19	36133568	36133568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcactccaaggggacaCgccgacagcgacagcagaga	13	13	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr19:36133568C>T	ENST00000403402.1	+	2	428	c.122C>T	c.(121-123)aCg>aTg	p.T41M	ETV2_ENST00000402764.2_Missense_Mutation_p.T41M|ETV2_ENST00000479824.1_5'UTR|ETV2_ENST00000379023.4_Missense_Mutation_p.T41M|ETV2_ENST00000379026.2_Missense_Mutation_p.T69M			O00321	ETV2_HUMAN	ets variant 2	41					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAAGGGGACACGCCGACAGCG	0.612																																																	0								ENSG00000105672						38	28	31					19																	36133568		2203	4300	6503	ETV2	SO:0001583	missense	0			-	HGNC	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.122C>T	19.37:g.36133568C>T	ENSP00000385369:p.Thr41Met	Somatic	0	84	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP							pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom	p.T41M	ENST00000403402.1	37	c.122	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	c	14.23	2.472351	0.43942	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000412475;ENST00000379023;ENST00000379021;ENST00000403402	T;T;T;T	0.19938	2.11;2.12;2.55;2.12	4.16	3.13	0.36017	.	984.407000	0.00166	N	0.000000	T	0.26304	0.0642	N	0.14661	0.345	0.09310	N	0.999997	B;D;P	0.76494	0.011;0.999;0.458	B;P;B	0.56088	0.001;0.791;0.025	T	0.30446	-0.9978	10	0.87932	D	0	.	7.9093	0.29780	0.0:0.8856:0.0:0.1144	.	41;69;41	Q3KNT2;A6NFN5;B9EIN1	.;.;.	M	69;41;41;41;41;41	ENSP00000368312:T69M;ENSP00000384524:T41M;ENSP00000368309:T41M;ENSP00000385369:T41M	ENSP00000368307:T41M	T	+	2	0	ETV2	40825408	0.000000	0.05858	0.481000	0.27354	0.213000	0.24496	-0.207000	0.09384	1.103000	0.41568	-0.447000	0.05616	ACG	-	NULL		0.612	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	protein_coding	OTTHUMT00000318848.2	C	XM_209182	-		36133568	1	no_errors	ENST00000402764	ensembl	human	known	74_37	missense	SNP	0.374	T	T	36133568	C	T	36133568	3	4	125	1	0	0	0	0	1	0	0	0	5280	536	19	1	128	1	ETV2	19	36133568	Missense_Mutation	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09	19097430	36133568	22995415	56	9386											
HIPK4	147746	genome.wustl.edu	37	chr19	40890005	40890005	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtatggctccttcacgtaGcgcacctcgctgaaaatgct	9	12	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr19:40890005G>T	ENST00000291823.2	-	2	791	c.507C>A	c.(505-507)cgC>cgA	p.R169R		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCTTCACGTAGCGCACCTCGC	0.637																																																	0								ENSG00000160396						60	58	59					19																	40890005		2203	4300	6503	HIPK4	SO:0001819	synonymous_variant	0			-	HGNC	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.507C>A	19.37:g.40890005G>T		Somatic	0	49	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A8K863|Q96M54	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R169	ENST00000291823.2	37	c.507	CCDS12555.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	protein_coding	OTTHUMT00000462593.1	G	NM_144685	-		40890005	-1	no_errors	ENST00000291823	ensembl	human	known	74_37	silent	SNP	0.994	T	T	40890005	G	T	40890005	2	4	125	1	0	0	0	0	0	0	0	1	7121	958	34	3		3	HIPK4	19	40890005	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	4756437	40890005	18238978	57	9387											
PTPRT	11122	genome.wustl.edu	37	chr20	41420099	41420099	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagagctgttcaccatcatGaaagatcctggagacccaca	8	13	2	4			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chr20:41420099G>T	ENST00000373187.1	-	3	221	c.222C>A	c.(220-222)ttC>ttA	p.F74L	PTPRT_ENST00000373184.1_Missense_Mutation_p.F74L|PTPRT_ENST00000373193.3_Missense_Mutation_p.F74L|PTPRT_ENST00000373198.4_Missense_Mutation_p.F74L|PTPRT_ENST00000373190.1_Missense_Mutation_p.F74L|PTPRT_ENST00000356100.2_Missense_Mutation_p.F74L|PTPRT_ENST00000373201.1_Missense_Mutation_p.F74L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	74	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.		F -> S (in a colorectal cancer). {ECO:0000269|PubMed:15155950}.		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)				TCACCATCATGAAAGATCCTG	0.498																																																	0								ENSG00000196090						23	26	25					20																	41420099		1885	4120	6005	PTPRT	SO:0001583	missense	0			-	HGNC	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.222C>A	20.37:g.41420099G>T	ENSP00000362283:p.Phe74Leu	Somatic	0	40	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.F74L	ENST00000373187.1	37	c.222	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237559	0.79800	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1	5.54	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.053348	0.85682	D	0.000000	T	0.14485	0.0350	M	0.75777	2.31	0.58432	D	0.999997	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.995	T	0.00353	-1.1795	10	0.66056	D	0.02	.	14.2225	0.65836	0.0718:0.0:0.9282:0.0	.	74;74	O14522-1;O14522	.;PTPRT_HUMAN	L	74	ENSP00000362286:F74L;ENSP00000362283:F74L;ENSP00000362289:F74L;ENSP00000348408:F74L;ENSP00000362294:F74L;ENSP00000362280:F74L;ENSP00000362297:F74L	ENSP00000348408:F74L	F	-	3	2	PTPRT	40853513	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.966000	0.56795	1.347000	0.45714	0.462000	0.41574	TTC	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	G		-		41420099	-1	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41420099	G	T	41420099	3	4	125	1	0	0	0	0	1	0	0	0	12820	1281	45	3	4280	3	PTPRT	20	41420099	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09		41420099	21605421	58	9388											
SHOX	6473	genome.wustl.edu	37	chrX	601772	601772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccacctagacgcctgcCgagtggcaccctacgtcaac	8	18	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:601772C>T	ENST00000554971.1	+	4	674	c.583C>T	c.(583-585)Cga>Tga	p.R195*	SHOX_ENST00000334060.3_Nonsense_Mutation_p.R195*|SHOX_ENST00000381575.1_Nonsense_Mutation_p.R195*|SHOX_ENST00000381578.1_Nonsense_Mutation_p.R195*			O15266	SHOX_HUMAN	short stature homeobox	195					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(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)				AGACGCCTGCCGAGTGGCACC	0.582																																					Ovarian(95;18 1419 12424 14056 28266)												0			GRCh37	CM971378	SHOX	M	rs137852552	ENSG00000185960						243	209	221					X																	601772		2203	4296	6499	SHOX	SO:0001587	stop_gained	0			-	HGNC	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"Pseudoautosomal regions / PAR1", "Homeoboxes / PRD class"	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.583C>T	X.37:g.601772C>T	ENSP00000452016:p.Arg195*	Somatic	0	146	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	60	36.17	O00412|O00413|O15267	Nonsense_Mutation	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.R195*	ENST00000554971.1	37	c.583	CCDS14107.1	X	.	.	.	.	.	.	.	.	.	.	C	9.544	1.114132	0.20795	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	.	.	.	1.53	0.12	0.14691	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	7.4216	0.27075	0.5683:0.4316:0.0:0.0	.	.	.	.	X	195	.	ENSP00000335505:R195X	R	+	1	2	SHOX	521772	0.998000	0.40836	0.904000	0.35570	0.204000	0.24138	0.501000	0.22578	-0.146000	0.11274	0.115000	0.15696	CGA	-	NULL		0.582	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOX	protein_coding	OTTHUMT00000411999.3	C	NM_000451	-		601772	1	no_errors	ENST00000381578	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	601772	C	T	601772	4	4	125	1	0	0	0	0	0	1	0	0	14296	644	23	1	597	1	SHOX	23	601772	Nonsense_Mutation	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09		601772	154668788	59	9389											
FAM47B	170062	genome.wustl.edu	37	chrX	34962204	34962204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctcccaagactcgtcGggtgtccagtctctgcccgg	12	15	1	1	rs146264202	byFrequency	TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:34962204G>A	ENST00000329357.5	+	1	1292	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	419										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						AAGACTCGTCGGGTGTCCAGT	0.562																																																	0								ENSG00000189132						69	62	65					X																	34962204		2202	4300	6502	FAM47B	SO:0001583	missense	0			-	HGNC	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.1256G>A	X.37:g.34962204G>A	ENSP00000328307:p.Arg419Gln	Somatic	0	94	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	49	44.32	Q5JQN5|Q6PIG3	Missense_Mutation	SNP							NULL	p.R419Q	ENST00000329357.5	37	c.1256	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	G	4.508	0.094292	0.08632	.	.	ENSG00000189132	ENST00000329357	T	0.15487	2.42	0.158	0.158	0.14942	.	.	.	.	.	T	0.11665	0.0284	L	0.47716	1.5	0.09310	N	1	B	0.26258	0.145	B	0.13407	0.009	T	0.37220	-0.9715	8	0.14252	T	0.57	.	.	.	.	.	419	Q8NA70	FA47B_HUMAN	Q	419	ENSP00000328307:R419Q	ENSP00000328307:R419Q	R	+	2	0	FAM47B	34872125	0.021000	0.18746	0.001000	0.08648	0.002000	0.02628	0.287000	0.18920	0.187000	0.20147	0.190000	0.17370	CGG	-	NULL		0.562	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	G	NM_152631	-		34962204	1	no_errors	ENST00000329357	ensembl	human	known	74_37	missense	SNP	0.001	A	A	34962204	G	A	34962204	3	1	125	1	0	0	0	0	1	0	0	0	5572	1116	39	1	1258	1	FAM47B	23	34962204	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	34360432	34962204	120308356	60	9390											
CXorf22	170063	genome.wustl.edu	37	chrX	35937998	35937998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaaggggttccctcgtcCcccgggatatggatagctcg	12	13	0	0			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:35937998C>A	ENST00000297866.5	+	1	148	c.82C>A	c.(82-84)Ccc>Acc	p.P28T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	28										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCCCTCGTCCCCCGGGATAT	0.612																																																	0								ENSG00000165164						52	41	45					X																	35937998		2202	4300	6502	CXorf22	SO:0001583	missense	0			-	HGNC	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.82C>A	X.37:g.35937998C>A	ENSP00000297866:p.Pro28Thr	Somatic	0	127	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	48	54.72	Q5JRM8|Q8N6X8	Missense_Mutation	SNP							superfamily_PapD-like	p.P28T	ENST00000297866.5	37	c.82	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156820	0.21454	.	.	ENSG00000165164	ENST00000297866	T	0.14640	2.49	4.81	0.774	0.18521	.	1.194060	0.06213	N	0.685432	T	0.15522	0.0374	L	0.57536	1.79	0.09310	N	1	B	0.22414	0.069	B	0.30029	0.11	T	0.40194	-0.9576	10	0.39692	T	0.17	-37.141	3.3823	0.07259	0.1312:0.5508:0.1408:0.1772	.	28	Q6ZTR5	CX022_HUMAN	T	28	ENSP00000297866:P28T	ENSP00000297866:P28T	P	+	1	0	CXorf22	35847919	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.388000	0.07352	-0.518000	0.06452	-1.231000	0.01572	CCC	-	NULL		0.612	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	protein_coding	OTTHUMT00000056216.2	C	NM_152632	-		35937998	1	no_errors	ENST00000297866	ensembl	human	known	74_37	missense	SNP	0.000	A	A	35937998	C	A	35937998	3	1	125	1	0	0	0	0	1	0	0	0	4104	623	22	3	84	3	CXorf22	23	35937998	Missense_Mutation	SNP	C	TCGA-DX-AB2X-01A-11D-A387-09	975794	35937998	119332562	61	9391											
MED14	9282	genome.wustl.edu	37	chrX	40511075	40511075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctatggacgcccaccagGgggcagtgtaagattagcca	13	10	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:40511075G>A	ENST00000324817.1	-	31	4466	c.4348C>T	c.(4348-4350)Cct>Tct	p.P1450S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1450					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)			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						CGCCCACCAGGGGGCAGTGTA	0.393																																																	0								ENSG00000180182						45	39	41					X																	40511075		2203	4299	6502	MED14	SO:0001583	missense	0			-	HGNC	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.4348C>T	X.37:g.40511075G>A	ENSP00000323720:p.Pro1450Ser	Somatic	0	90	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	105	26.57	Q4KMR7|Q9UNB3	Missense_Mutation	SNP							pfam_Mediator_Med14	p.P1450S	ENST00000324817.1	37	c.4348	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051597	0.36181	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.88	5.88	0.94601	.	0.159176	0.64402	D	0.000019	T	0.23014	0.0556	N	0.00841	-1.15	0.58432	D	0.999996	B	0.17038	0.02	B	0.12837	0.008	T	0.41215	-0.9521	9	0.02654	T	1	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	1450	O60244	MED14_HUMAN	S	1450	.	ENSP00000323720:P1450S	P	-	1	0	MED14	40396019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.038000	0.76537	2.474000	0.83562	0.600000	0.82982	CCT	-	NULL		0.393	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	G	NM_004229	-		40511075	-1	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40511075	G	A	40511075	3	1	125	1	0	0	0	0	1	0	0	0	9434	1232	43	2	20	2	MED14	23	40511075	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	4573077	40511075	114759485	62	9392											
TRO	7216	genome.wustl.edu	37	chrX	54950979	54950979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgagatgtggccattttAcaagaaagggtaagaatcca	11	8	0	3			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:54950979A>G	ENST00000173898.7	+	4	1444	c.1332A>G	c.(1330-1332)ttA>ttG	p.L444L	TRO_ENST00000375022.4_Silent_p.L444L|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Silent_p.L47L|TRO_ENST00000420798.2_5'UTR|TRO_ENST00000399736.1_Silent_p.L47L|TRO_ENST00000319167.8_Silent_p.L444L|TRO_ENST00000484031.1_3'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	444	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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						TGGCCATTTTACAAGAAAGGG	0.502																																																	0								ENSG00000067445						51	49	49					X																	54950979		2018	4171	6189	TRO	SO:0001819	synonymous_variant	0			-	HGNC	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.1332A>G	X.37:g.54950979A>G		Somatic	0	62	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	24	48.94	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP							pfam_MAGE,pfscan_MAGE	p.L444	ENST00000173898.7	37	c.1332	CCDS43959.1	X																																																																																			-	pfscan_MAGE		0.502	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	protein_coding	OTTHUMT00000056837.3	A	NM_016157	-		54950979	1	no_errors	ENST00000173898	ensembl	human	known	74_37	silent	SNP	0.993	G	G	54950979	A	G	54950979	2	3	125	1	0	0	0	0	0	0	0	1	16581	388	14	5		5	TRO	23	54950979	Silent	SNP	A	TCGA-DX-AB2X-01A-11D-A387-09	14439904	54950979	100319581	63	9393											
ZMYM3	9203	genome.wustl.edu	37	chrX	70469941	70469941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccagactgggggatcgGgcgctgctgctgggcctcat	15	13	1	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:70469941G>A	ENST00000353904.2	-	6	1373	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	ZMYM3_ENST00000373984.3_Missense_Mutation_p.P398S|ZMYM3_ENST00000373978.1_Silent_p.A299A|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P396S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P398S|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P398S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P396S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P396S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	396					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGGGGGATCGGGCGCTGCTGC	0.607																																																	0								ENSG00000147130						50	44	46					X																	70469941		2203	4300	6503	ZMYM3	SO:0001583	missense	0			-	HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1186C>T	X.37:g.70469941G>A	ENSP00000343909:p.Pro396Ser	Somatic	0	73	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.P398S	ENST00000353904.2	37	c.1192	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	10.40	1.339509	0.24339	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.49139	1.5;0.93;1.5;1.5;1.5;0.79;0.79	3.4	3.4	0.38934	.	0.486738	0.18768	N	0.131690	T	0.32436	0.0829	L	0.35341	1.055	0.33649	D	0.608262	B;B;B;B	0.33212	0.402;0.402;0.004;0.002	B;B;B;B	0.33196	0.159;0.159;0.006;0.002	T	0.41645	-0.9497	10	0.30078	T	0.28	-6.4602	6.8954	0.24253	0.218:0.0:0.782:0.0	.	398;396;396;396	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	S	396;396;396;398;398;398;396	ENSP00000322845:P396S;ENSP00000363110:P396S;ENSP00000343909:P396S;ENSP00000363096:P398S;ENSP00000363100:P398S;ENSP00000363094:P398S;ENSP00000363093:P396S	ENSP00000322845:P396S	P	-	1	0	ZMYM3	70386666	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.016000	0.57159	1.957000	0.56846	0.468000	0.43344	CCG	-	NULL		0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	G	NM_201599	-		70469941	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	SNP	0.996	A	A	70469941	G	A	70469941	3	1	125	1	0	0	0	0	1	0	0	0	17708	1232	43	2	3024	2	ZMYM3	23	70469941	Missense_Mutation	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	15518962	70469941	84800619	64	9394											
ATRX	546	genome.wustl.edu	37	chrX	76849184	76849184	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acactttatccccaatttccTctgccattcgaagaatttca	3	13	2	1			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:76849184T>A	ENST00000373344.5	-	26	6306	c.6092A>T	c.(6091-6093)gAg>gTg	p.E2031V	ATRX_ENST00000395603.3_Missense_Mutation_p.E1993V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2031	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCCAATTTCCTCTGCCATTCG	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						64	62	63					X																	76849184		2203	4296	6499	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6092A>T	X.37:g.76849184T>A	ENSP00000362441:p.Glu2031Val	Somatic	0	91	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	79	39.23	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2031V	ENST00000373344.5	37	c.6092	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024852	0.54683	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.91945	-2.94;-2.94	5.27	5.27	0.74061	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.93007	0.6428	10	0.44086	T	0.13	-12.1774	14.321	0.66487	0.0:0.0:0.0:1.0	.	1993;2031	P46100-4;P46100	.;ATRX_HUMAN	V	2031;1993	ENSP00000362441:E2031V;ENSP00000378967:E1993V	ENSP00000362441:E2031V	E	-	2	0	ATRX	76735840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	1.761000	0.52028	0.430000	0.28490	GAG	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489	-		76849184	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76849184	T	A	76849184	3	1	125	1	0	0	0	0	1	0	0	0	1208	1551	54	5	1426	5	ATRX	23	76849184	Missense_Mutation	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09	6379243	76849184	78421376	65	9395											
SYTL4	94121	genome.wustl.edu	37	chrX	99934327	99934327	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccttgacaaagctgtcTgaagtccctcctgctttggc	8	15	1	2			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:99934327T>C	ENST00000372989.1	-	17	1972	c.1641A>G	c.(1639-1641)tcA>tcG	p.S547S	SYTL4_ENST00000276141.6_Silent_p.S547S|SYTL4_ENST00000455616.1_Silent_p.S547S|SYTL4_ENST00000491602.1_5'Flank|SYTL4_ENST00000454200.2_Silent_p.S549S|SYTL4_ENST00000263033.5_Silent_p.S547S	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	547	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)			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)"	CAAAGCTGTCTGAAGTCCCTC	0.488																																																	0								ENSG00000102362						122	89	100					X																	99934327		2203	4300	6503	SYTL4	SO:0001819	synonymous_variant	0			-	HGNC		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.1641A>G	X.37:g.99934327T>C		Somatic	0	72	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin	p.S549	ENST00000372989.1	37	c.1647	CCDS14472.1	X																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.488	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	protein_coding	OTTHUMT00000057488.1	T	NM_080737	-		99934327	-1	no_errors	ENST00000454200	ensembl	human	known	74_37	silent	SNP	0.982	C	C	99934327	T	C	99934327	2	2	125	1	0	0	0	0	0	0	0	1	15492	1567	55	5		5	SYTL4	23	99934327	Silent	SNP	T	TCGA-DX-AB2X-01A-11D-A387-09	23085143	99934327	55336233	66	9396											
AGTR2	186	genome.wustl.edu	37	chrX	115304619	115304619	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaaatggagacctttgtGtcttaaacgtgagagcaaaa	11	5	1	3			TCGA-DX-AB2X-01A-11D-A387-09	TCGA-DX-AB2X-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e974c2c7-3bb3-487c-b408-70d51608c374	afa3e1cd-afd2-4a98-bdc9-f6ae7beb9855	g.chrX:115304619G>T	ENST00000371906.4	+	3	1276	c.1086G>T	c.(1084-1086)gtG>gtT	p.V362V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	362					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	AGACCTTTGTGTCTTAAACGT	0.378																																																	0								ENSG00000180772						72	68	70					X																	115304619		2202	4300	6502	AGTR2	SO:0001819	synonymous_variant	0			-	HGNC	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.1086G>T	X.37:g.115304619G>T		Somatic	0	63	0		0.702157306869686				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2R9V1|Q13016|Q6FGY7	Silent	SNP							pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.V362	ENST00000371906.4	37	c.1086	CCDS14569.1	X																																																																																			-	NULL		0.378	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	protein_coding	OTTHUMT00000057984.1	G	NM_000686	-		115304619	1	no_errors	ENST00000371906	ensembl	human	known	74_37	silent	SNP	0.001	T	T	115304619	G	T	115304619	2	4	125	1	0	0	0	0	0	0	0	1	402	1364	48	3		3	AGTR2	23	115304619	Silent	SNP	G	TCGA-DX-AB2X-01A-11D-A387-09	15370292	115304619	39965941	67	9397											
TNFRSF9	3604	genome.wustl.edu	37	chr1	7998781	7998781	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatctttgaactcatacCtttacactgcctgcatatgt	4	10	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:7998781C>T	ENST00000377507.3	-	3	374	c.208G>A	c.(208-210)Ggt>Agt	p.G70S		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|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;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000049249						176	178	177					1																	7998781		2203	4300	6503	TNFRSF9	SO:0001630	splice_region_variant	0			-	HGNC	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>A	1.37:g.7998781C>T		Somatic	0	77	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	51	31.08		Missense_Mutation	SNP							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9	p.G70S	ENST00000377507.3	37	c.208	CCDS92.1	1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167985	0.57476	.	.	ENSG00000049249	ENST00000377507	D	0.97906	-4.6	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	L	0.47190	1.495	0.45502	D	0.998462	D	0.89917	1.0	D	0.87578	0.998	D	0.97379	0.9981	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	S	70	ENSP00000366729:G70S	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF9	protein_coding	OTTHUMT00000003622.1	C		-	Missense_Mutation	7998781	-1	no_errors	ENST00000377507	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7998781	C	T	7998781	5	4	126	1	0	0	0	0	0	0	1	0	16307	695	24	2	583	2	TNFRSF9	1	7998781	Splice_Site	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09		7998781	241251840	1	9398											
FAF1	11124	genome.wustl.edu	37	chr1	51121153	51121153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggccagccctcccataaTtggtggcgaacggggatact	13	11	0	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:51121153T>C	ENST00000396153.2	-	8	1156	c.705A>G	c.(703-705)caA>caG	p.Q235Q	FAF1_ENST00000371778.4_Silent_p.Q235Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	235					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCTCCCATAATTGGTGGCGAA	0.383																																																	1	Whole gene deletion(1)	thyroid(1)						ENSG00000185104						132	125	128					1																	51121153		2203	4300	6503	FAF1	SO:0001819	synonymous_variant	0			-	HGNC	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.705A>G	1.37:g.51121153T>C		Somatic	0	69	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	53	31.17	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Silent	SNP							pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.Q235	ENST00000396153.2	37	c.705	CCDS554.1	1																																																																																			-	NULL		0.383	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	protein_coding	OTTHUMT00000021807.1	T	NM_007051	-		51121153	-1	no_errors	ENST00000371778	ensembl	human	known	74_37	silent	SNP	0.998	C	C	51121153	T	C	51121153	2	2	126	1	0	0	0	0	0	0	0	1	5371	1490	52	5		5	FAF1	1	51121153	Silent	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09	43122372	51121153	198129468	2	9399											
KCNA3	3738	genome.wustl.edu	37	chr1	111215894	111215894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcttttcggagctccTcggctgaagaggagaggtgc	14	10	0	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:111215894T>C	ENST00000369769.2	-	1	1761	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	513					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)			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)	TCGGAGCTCCTCGGCTGAAGA	0.527																																																	0								ENSG00000177272						84	75	78					1																	111215894		2203	4300	6503	KCNA3	SO:0001583	missense	0			-	HGNC	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.1538A>G	1.37:g.111215894T>C	ENSP00000358784:p.Glu513Gly	Somatic	0	52	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q5VWN2	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E513G	ENST00000369769.2	37	c.1538	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489511	0.26686	.	.	ENSG00000177272	ENST00000369769	D	0.97041	-4.22	5.91	4.79	0.61399	.	0.000000	0.33591	U	0.004744	D	0.88265	0.6390	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84838	0.0806	10	0.20519	T	0.43	.	11.4281	0.50022	0.0:0.0699:0.0:0.9301	.	513	P22001	KCNA3_HUMAN	G	513	ENSP00000358784:E513G	ENSP00000358784:E513G	E	-	2	0	KCNA3	111017417	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.278000	0.58946	2.255000	0.74692	0.533000	0.62120	GAG	-	NULL		0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	protein_coding	OTTHUMT00000083391.1	T	NM_002232	-		111215894	-1	no_errors	ENST00000369769	ensembl	human	known	74_37	missense	SNP	1.000	C	C	111215894	T	C	111215894	3	2	126	1	0	0	0	0	1	0	0	0	8006	1551	54	5	193	5	KCNA3	1	111215894	Missense_Mutation	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09	60094741	111215894	138034727	3	9400											
RORC	6097	genome.wustl.edu	37	chr1	151779974	151779974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacagccccacaggtgactCggtttcagtgctgaagagct	13	11	1	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:151779974C>T	ENST00000318247.6	-	11	1638	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	RORC_ENST00000392697.3_Missense_Mutation_p.E565K|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Missense_Mutation_p.E490K|LINGO4_ENST00000368820.3_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	511	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGGTGACTCGGTTTCAGTG	0.612																																																	0								ENSG00000143365						107	96	100					1																	151779974		2203	4300	6503	RORC	SO:0001583	missense	0			-	HGNC	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1531G>A	1.37:g.151779974C>T	ENSP00000327025:p.Glu511Lys	Somatic	0	91	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt	p.E565K	ENST00000318247.6	37	c.1693	CCDS1004.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.327264	0.95708	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94687	-3.45;-3.49;-3.46	5.5	5.5	0.81552	.	0.000000	0.56097	U	0.000025	D	0.94066	0.8098	M	0.70275	2.135	0.22648	N	0.998892	D;D;D;D	0.61697	0.99;0.977;0.977;0.976	P;P;P;B	0.51170	0.661;0.457;0.475;0.372	D	0.90234	0.4281	10	0.66056	D	0.02	.	16.8956	0.86099	0.0:1.0:0.0:0.0	.	499;565;511;490	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	K	490;565;511	ENSP00000349164:E490K;ENSP00000376461:E565K;ENSP00000327025:E511K	ENSP00000327025:E511K	E	-	1	0	RORC	150046598	0.641000	0.27251	0.167000	0.22817	0.976000	0.68499	1.961000	0.40432	2.578000	0.87016	0.655000	0.94253	GAG	-	NULL		0.612	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	protein_coding	OTTHUMT00000036626.1	C		-		151779974	-1	no_errors	ENST00000392697	ensembl	human	known	74_37	missense	SNP	0.280	T	T	151779974	C	T	151779974	3	4	126	1	0	0	0	0	1	0	0	0	13538	893	31	1	29	1	RORC	1	151779974	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	40564080	151779974	97470647	4	9401											
FAM78B	149297	genome.wustl.edu	37	chr1	166135466	166135466	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatccgcgccttgcaggtgAtgctttggatacagcccatc	12	12	0	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:166135466A>T	ENST00000338353.3	-	2	609	c.20T>A	c.(19-21)aTc>aAc	p.I7N	FAM78B_ENST00000354422.3_Missense_Mutation_p.I7N|RP11-9L18.3_ENST00000451784.1_RNA			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	7										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTTGCAGGTGATGCTTTGGAT	0.731																																																	0								ENSG00000188859						48	35	39					1																	166135466		2198	4288	6486	FAM78B	SO:0001583	missense	0			-	HGNC	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.20T>A	1.37:g.166135466A>T	ENSP00000339681:p.Ile7Asn	Somatic	0	82	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	B7Z693	Missense_Mutation	SNP							NULL	p.I7N	ENST00000338353.3	37	c.20	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.141657	0.57044	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.01	4.01	0.46588	.	0.257566	0.39475	N	0.001355	T	0.28433	0.0703	L	0.38175	1.15	0.37110	D	0.900288	B	0.29085	0.232	B	0.37047	0.24	T	0.14587	-1.0467	7	.	.	.	-21.0486	10.9256	0.47189	1.0:0.0:0.0:0.0	.	7	Q5VT40	FA78B_HUMAN	N	7	.	.	I	-	2	0	FAM78B	164402090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.485000	0.90448	1.656000	0.50722	0.383000	0.25322	ATC	-	NULL		0.731	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	protein_coding	OTTHUMT00000343108.1	A	NM_001017961	-		166135466	-1	no_errors	ENST00000338353	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166135466	A	T	166135466	3	4	126	1	0	0	0	0	1	0	0	0	5629	333	12	5	773	5	FAM78B	1	166135466	Missense_Mutation	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09	14355492	166135466	83115155	5	9402											
RGS18	64407	genome.wustl.edu	37	chr1	192127772	192127772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattttagagagaagatggAaacaacattgcttttctttt	7	5	2	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:192127772A>G	ENST00000367460.3	+	1	186	c.5A>G	c.(4-6)gAa>gGa	p.E2G	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	2					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGAAGATGGAAACAACATTG	0.264																																																	0								ENSG00000150681						31	34	33					1																	192127772		2195	4276	6471	RGS18	SO:0001583	missense	0			-	HGNC	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.5A>G	1.37:g.192127772A>G	ENSP00000356430:p.Glu2Gly	Somatic	0	47	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B2RD23	Missense_Mutation	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.E2G	ENST00000367460.3	37	c.5	CCDS1374.1	1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796584	0.31777	.	.	ENSG00000150681	ENST00000367460	T	0.56444	0.46	5.68	4.56	0.56223	.	0.233058	0.41712	D	0.000827	T	0.39835	0.1093	L	0.34521	1.04	0.45342	D	0.998334	B	0.10296	0.003	B	0.10450	0.005	T	0.33394	-0.9870	10	0.52906	T	0.07	.	8.7177	0.34421	0.9144:0.0:0.0856:0.0	.	2	Q9NS28	RGS18_HUMAN	G	2	ENSP00000356430:E2G	ENSP00000356430:E2G	E	+	2	0	RGS18	190394395	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	3.743000	0.55104	2.169000	0.68431	0.528000	0.53228	GAA	-	NULL		0.264	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS18	protein_coding	OTTHUMT00000086382.1	A	NM_130782	-		192127772	1	no_errors	ENST00000367460	ensembl	human	known	74_37	missense	SNP	0.997	G	G	192127772	A	G	192127772	3	3	126	1	0	0	0	0	1	0	0	0	13308	246	9	5	7	5	RGS18	1	192127772	Missense_Mutation	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09	25992306	192127772	57122849	6	9403											
OR2L8	391190	genome.wustl.edu	37	chr1	248112446	248112446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctatctccttcactgggtGtgggattcagagtttcttct	10	9	6	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr1:248112446G>T	ENST00000357191.3	+	1	287	c.287G>T	c.(286-288)tGt>tTt	p.C96F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	96						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCACTGGGTGTGGGATTCAG	0.433																																																	0								ENSG00000196936						294	251	266					1																	248112446		2203	4300	6503	OR2L8	SO:0001583	missense	0			-	HGNC	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.287G>T	1.37:g.248112446G>T	ENSP00000349719:p.Cys96Phe	Somatic	0	132	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	112	19.42	Q6IF03	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C96F	ENST00000357191.3	37	c.287	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694231	0.30052	.	.	ENSG00000196936	ENST00000357191	T	0.00547	6.66	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.236977	0.21862	U	0.068020	T	0.01730	0.0055	H	0.99058	4.415	0.50632	D	0.999888	P	0.45594	0.862	B	0.40375	0.327	T	0.36962	-0.9726	10	0.72032	D	0.01	.	11.1275	0.48328	0.0:0.0:1.0:0.0	.	96	Q8NGY9	OR2L8_HUMAN	F	96	ENSP00000349719:C96F	ENSP00000349719:C96F	C	+	2	0	OR2L8	246179069	1.000000	0.71417	0.378000	0.26068	0.032000	0.12392	7.205000	0.77881	0.905000	0.36596	0.479000	0.44913	TGT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	protein_coding	OTTHUMT00000096853.2	G		-		248112446	1	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	SNP	0.988	T	T	248112446	G	T	248112446	3	4	126	1	0	0	0	0	1	0	0	0	11011	1377	48	3	289	3	OR2L8	1	248112446	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	55984674	248112446	1138175	7	9404											
CAPN13	92291	genome.wustl.edu	37	chr2	30954221	30954221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctcacctccatttctgTcaggtagagtccttttccat	6	13	3	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr2:30954221T>C	ENST00000295055.8	-	21	2148	c.1972A>G	c.(1972-1974)Aca>Gca	p.T658A	CAPN13_ENST00000534090.2_Missense_Mutation_p.T658A	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	658	EF-hand 2.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCATTTCTGTCAGGTAGAGT	0.532																																																	0								ENSG00000162949						57	56	56					2																	30954221		1921	4117	6038	CAPN13	SO:0001583	missense	0			-	HGNC		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1972A>G	2.37:g.30954221T>C	ENSP00000295055:p.Thr658Ala	Somatic	0	61	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.T658A	ENST00000295055.8	37	c.1972	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095040	0.36952	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.29142	1.58;1.58	5.44	4.29	0.51040	EF-hand-like domain (1);	10.584500	0.00166	N	0.000000	T	0.34919	0.0914	M	0.71581	2.175	0.29346	N	0.86571	P	0.47302	0.893	B	0.35240	0.198	T	0.39313	-0.9620	10	0.59425	D	0.04	.	7.9603	0.30068	0.0:0.0931:0.0:0.9069	.	658	Q6MZZ7	CAN13_HUMAN	A	658	ENSP00000295055:T658A;ENSP00000431298:T658A	ENSP00000295055:T658A	T	-	1	0	CAPN13	30807725	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	3.940000	0.56599	0.906000	0.36621	0.528000	0.53228	ACA	-	NULL		0.532	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	protein_coding	OTTHUMT00000325101.2	T	NM_144575	-		30954221	-1	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	SNP	0.999	C	C	30954221	T	C	30954221	3	2	126	1	0	0	0	0	1	0	0	0	2628	1667	58	5	45	5	CAPN13	2	30954221	Missense_Mutation	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09		30954221	212245152	8	9405											
CLEC4F	165530	genome.wustl.edu	37	chr2	71043556	71043556	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttccaaatgacctcttaaGaactggatctcagcactagt	6	11	2	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr2:71043556G>A	ENST00000272367.2	-	4	1033	c.957C>T	c.(955-957)ttC>ttT	p.F319F	CLEC4F_ENST00000426626.1_Silent_p.F319F	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	319					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GACCTCTTAAGAACTGGATCT	0.418																																					Colon(107;10 2157 6841 26035)												0								ENSG00000152672						92	93	93					2																	71043556		2203	4300	6503	CLEC4F	SO:0001819	synonymous_variant	0			-	HGNC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.957C>T	2.37:g.71043556G>A		Somatic	0	46	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A4QPA5	Silent	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.F319	ENST00000272367.2	37	c.957	CCDS1910.1	2																																																																																			-	NULL		0.418	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	protein_coding	OTTHUMT00000251922.1	G	NM_173535	-		71043556	-1	no_errors	ENST00000272367	ensembl	human	known	74_37	silent	SNP	0.000	A	A	71043556	G	A	71043556	2	1	126	1	0	0	0	0	0	0	0	1	3518	933	33	2		2	CLEC4F	2	71043556	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	40089335	71043556	172155817	9	9406											
TMEM131	23505	genome.wustl.edu	37	chr2	98408981	98408981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcggaactgtgcctcgCgctgctggcacgttctgggt	14	13	1	0	rs375503219		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr2:98408981C>T	ENST00000186436.5	-	31	4240	c.4012G>A	c.(4012-4014)Gcg>Acg	p.A1338T		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1338						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGTGCCTCGCGCTGCTGGCA	0.617																																																	0								ENSG00000075568						40	42	41					2																	98408981		2054	4207	6261	TMEM131	SO:0001583	missense	0			-	HGNC	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4012G>A	2.37:g.98408981C>T	ENSP00000186436:p.Ala1338Thr	Somatic	0	51	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53		Missense_Mutation	SNP							pfam_DUF3651_TMEM131	p.A1338T	ENST00000186436.5	37	c.4012	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	T	7.196	0.592542	0.13875	.	.	ENSG00000075568	ENST00000186436	T	0.15603	2.41	5.91	1.95	0.26073	.	0.703847	0.14397	N	0.322175	T	0.06735	0.0172	N	0.14661	0.345	0.25668	N	0.985922	B	0.02656	0.0	B	0.01281	0.0	T	0.40739	-0.9547	10	0.05959	T	0.93	-5.3888	3.4174	0.07381	0.1178:0.1344:0.1095:0.6383	.	1338	Q92545	TM131_HUMAN	T	1338	ENSP00000186436:A1338T	ENSP00000186436:A1338T	A	-	1	0	TMEM131	97775413	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.072000	0.30678	0.465000	0.27167	-0.254000	0.11334	GCG	-	NULL		0.617	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	protein_coding	OTTHUMT00000329285.2	C	XM_371542	-		98408981	-1	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	SNP	0.078	T	T	98408981	C	T	98408981	3	4	126	1	0	0	0	0	1	0	0	0	16051	768	27	1	1683	1	TMEM131	2	98408981	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	27365425	98408981	144790392	10	9407											
SLMAP	7871	genome.wustl.edu	37	chr3	57894866	57894866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatccactaaacaaatacAggttcttcaaggtatggaag	9	7	2	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr3:57894866A>G	ENST00000428312.1	+	17	1731	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R	SLMAP_ENST00000416870.1_Missense_Mutation_p.Q39R|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000494088.1_Missense_Mutation_p.Q39R|SLMAP_ENST00000449503.2_Missense_Mutation_p.Q508R|SLMAP_ENST00000295952.3_Missense_Mutation_p.Q529R|SLMAP_ENST00000295951.3_Missense_Mutation_p.Q529R|SLMAP_ENST00000495364.1_Missense_Mutation_p.Q80R			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	546					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAACAAATACAGGTTCTTCAA	0.373																																																	0								ENSG00000163681						92	101	98					3																	57894866		2203	4300	6503	SLMAP	SO:0001583	missense	0			-	HGNC	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1637A>G	3.37:g.57894866A>G	ENSP00000398661:p.Gln546Arg	Somatic	0	110	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	123	8.89	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP							pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.Q546R	ENST00000428312.1	37	c.1637		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.97|16.97	3.269745|3.269745	0.59540|0.59540	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000495364;ENST00000494088;ENST00000461354;ENST00000466255|ENST00000417128	T;T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;1.25;0.76;0.76;0.76|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Prefoldin beta-like (1);|.	0.252945|.	0.42172|.	D|.	0.000752|.	T|T	0.68522|0.68522	0.3010|0.3010	L|L	0.54323|0.54323	1.7|1.7	0.43485|0.43485	D|D	0.995713|0.995713	B;B;P;P;B;B;B|.	0.39940|.	0.452;0.27;0.551;0.696;0.005;0.005;0.218|.	P;B;P;B;B;B;B|.	0.45913|.	0.497;0.287;0.466;0.358;0.005;0.006;0.167|.	T|T	0.67189|0.67189	-0.5733|-0.5733	10|5	0.36615|.	T|.	0.2|.	-1.7802|-1.7802	14.9727|14.9727	0.71246|0.71246	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	39;80;39;140;508;546;529|.	B7Z863;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3|.	.;.;.;.;.;SLMAP_HUMAN;.|.	R|G	529;529;39;546;508;140;80;39;80;39|130	ENSP00000295951:Q529R;ENSP00000295952:Q529R;ENSP00000412342:Q39R;ENSP00000398661:Q546R;ENSP00000412945:Q508R;ENSP00000419543:Q80R;ENSP00000418218:Q39R|.	ENSP00000295951:Q529R|.	Q|R	+|+	2|1	0|2	SLMAP|SLMAP	57869906|57869906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	5.022000|5.022000	0.64078|0.64078	1.954000|1.954000	0.56735|0.56735	0.477000|0.477000	0.44152|0.44152	CAG|AGG	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.373	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	protein_coding	OTTHUMT00000351584.1	A	NM_007159	-		57894866	1	no_errors	ENST00000428312	ensembl	human	known	74_37	missense	SNP	1.000	G	G	57894866	A	G	57894866	3	3	126	1	0	0	0	0	1	0	0	0	14757	188	7	5	1648	5	SLMAP	3	57894866	Missense_Mutation	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09		57894866	140127564	11	9408											
EPHA6	285220	genome.wustl.edu	37	chr3	97251225	97251225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttggagaagtctgtagtGggcgtttgaagacaccaggg	15	5	1	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr3:97251225G>A	ENST00000514100.1	+	8	642	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	EPHA6_ENST00000389672.5_Missense_Mutation_p.G742R|EPHA6_ENST00000442602.2_Missense_Mutation_p.G108R|EPHA6_ENST00000502694.1_Missense_Mutation_p.G134R	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	648	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTCTGTAGTGGGCGTTTGAA	0.393																																																	0								ENSG00000080224						135	129	131					3																	97251225		1830	4096	5926	EPHA6	SO:0001583	missense	0			-	HGNC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.400G>A	3.37:g.97251225G>A	ENSP00000421711:p.Gly134Arg	Somatic	0	71	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	80	22.86	D6RAL5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G742R	ENST00000514100.1	37	c.2224		3	.	.	.	.	.	.	.	.	.	.	G	32	5.152815	0.94645	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.96241	0.8774	H	0.96805	3.885	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.934;1.0	D;D;P;D	0.97110	1.0;1.0;0.723;1.0	D	0.96986	0.9718	9	0.87932	D	0	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	108;647;134;134	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	R	742;134;134;108	ENSP00000374323:G742R;ENSP00000421711:G134R;ENSP00000423950:G134R;ENSP00000403100:G108R	ENSP00000374323:G742R	G	+	1	0	EPHA6	98733915	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.767000	0.95098	0.563000	0.77884	GGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.393	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	protein_coding	OTTHUMT00000359997.1	G	NM_001080448	-		97251225	1	no_errors	ENST00000389672	ensembl	human	known	74_37	missense	SNP	1.000	A	A	97251225	G	A	97251225	3	1	126	1	0	0	0	0	1	0	0	0	5173	1348	47	2	2334	2	EPHA6	3	97251225	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	39356359	97251225	100771205	12	9409											
CASR	846	genome.wustl.edu	37	chr3	122003418	122003418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaccatcgaggaggtgCgttgcagcaccgcagctcac	12	14	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr3:122003418C>T	ENST00000490131.1	+	7	2989	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	CASR_ENST00000296154.5_Missense_Mutation_p.R873C|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.R883C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	873					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R873C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGAGGAGGTGCGTTGCAGCAC	0.612																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000036828						45	45	45					3																	122003418		2203	4300	6503	CASR	SO:0001583	missense	0			-	HGNC	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2617C>T	3.37:g.122003418C>T	ENSP00000418685:p.Arg873Cys	Somatic	0	59	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.R883C	ENST00000490131.1	37	c.2647	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909577	0.72868	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90385	-2.66;-2.66;-2.66	5.89	5.89	0.94794	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.93495	0.6839	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	883;873	E7ENE0;P41180	.;CASR_HUMAN	C	873;883;873	ENSP00000418685:R873C;ENSP00000420194:R883C;ENSP00000296154:R873C	ENSP00000296154:R873C	R	+	1	0	CASR	123486108	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.762000	0.55250	2.793000	0.96121	0.561000	0.74099	CGT	-	pfscan_GPCR_3_C		0.612	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	protein_coding	OTTHUMT00000355761.1	C	NM_000388	-		122003418	1	no_errors	ENST00000498619	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122003418	C	T	122003418	3	4	126	1	0	0	0	0	1	0	0	0	2684	768	27	1	2669	1	CASR	3	122003418	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	24752193	122003418	76019012	13	9410											
DNAJC13	23317	genome.wustl.edu	37	chr3	132175349	132175349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatctctttacagatggCaactttgcagatgctgtatt	7	8	1	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr3:132175349C>T	ENST00000260818.6	+	11	1352	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	368					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTACAGATGGCAACTTTGCAG	0.308																																																	0								ENSG00000138246						135	132	133					3																	132175349		2203	4300	6503	DNAJC13	SO:0001819	synonymous_variant	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1104C>T	3.37:g.132175349C>T		Somatic	0	59	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP							pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.G368	ENST00000260818.6	37	c.1104	CCDS33857.1	3																																																																																			-	NULL		0.308	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	C	NM_015268	-		132175349	1	no_errors	ENST00000260818	ensembl	human	known	74_37	silent	SNP	0.988	T	T	132175349	C	T	132175349	2	4	126	1	0	0	0	0	0	0	0	1	4634	697	25	2		2	DNAJC13	3	132175349	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	10171931	132175349	65847081	14	9411											
KY	339855	genome.wustl.edu	37	chr3	134329079	134329079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtccaccaggccgctgCcccaggtgctgtccaccagg	13	16	0	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr3:134329079C>A	ENST00000423778.2	-	9	918	c.857G>T	c.(856-858)gGc>gTc	p.G286V	KY_ENST00000503669.1_Missense_Mutation_p.G286V|KY_ENST00000508956.1_Missense_Mutation_p.G265V|KY_ENST00000508041.1_5'Flank	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	286					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.G286D(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGGCCGCTGCCCCAGGTGCT	0.582																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000174611						76	83	81					3																	134329079		2135	4244	6379	KY	SO:0001583	missense	0			-	HGNC	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.857G>T	3.37:g.134329079C>A	ENSP00000397598:p.Gly286Val	Somatic	0	52	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	B7Z1S4|Q6ZT15	Missense_Mutation	SNP							pfam_Transglutaminase-like,smart_Transglutaminase-like	p.G286V	ENST00000423778.2	37	c.857	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530152	0.85706	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	T;T;T	0.28255	1.62;1.62;1.62	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.60762	-0.7199	10	0.87932	D	0	-10.4183	20.1278	0.97990	0.0:1.0:0.0:0.0	.	265;286;286	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	V	265;286;286;286	ENSP00000421297:G265V;ENSP00000397598:G286V;ENSP00000426777:G286V	ENSP00000309520:G286V	G	-	2	0	KY	135811769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.677000	0.68142	2.768000	0.95171	0.561000	0.74099	GGC	-	NULL		0.582	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	protein_coding	OTTHUMT00000357320.1	C	NM_178554	-		134329079	-1	no_errors	ENST00000423778	ensembl	human	known	74_37	missense	SNP	1.000	A	A	134329079	C	A	134329079	3	1	126	1	0	0	0	0	1	0	0	0	8588	739	26	3	1140	3	KY	3	134329079	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	2153730	134329079	63693351	15	9412											
GHSR	2693	genome.wustl.edu	37	chr3	172165433	172165433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttcacggtttgcttgtgGttctggtccctgagcgaggc	13	9	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr3:172165433G>T	ENST00000241256.2	-	1	813	c.771C>A	c.(769-771)aaC>aaA	p.N257K	GHSR_ENST00000427970.1_Missense_Mutation_p.N257K	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	257					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTTGCTTGTGGTTCTGGTCCC	0.612																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0								ENSG00000121853						93	94	94					3																	172165433		2203	4300	6503	GHSR	SO:0001583	missense	0			-	HGNC	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.771C>A	3.37:g.172165433G>T	ENSP00000241256:p.Asn257Lys	Somatic	0	58	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	38	56.82	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn	p.N257K	ENST00000241256.2	37	c.771	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993685	0.54041	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.69040	-0.37;-0.37	5.43	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.228496	0.52532	D	0.000076	T	0.53997	0.1831	L	0.33792	1.035	0.44825	D	0.997832	P;B	0.40970	0.734;0.302	B;B	0.42030	0.373;0.315	T	0.50775	-0.8788	10	0.30854	T	0.27	-14.8776	8.3157	0.32100	0.223:0.0:0.777:0.0	.	257;257	Q92847-2;Q92847	.;GHSR_HUMAN	K	257	ENSP00000241256:N257K;ENSP00000395344:N257K	ENSP00000241256:N257K	N	-	3	2	GHSR	173648127	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.577000	0.53885	2.559000	0.86315	0.455000	0.32223	AAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R		0.612	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	protein_coding	OTTHUMT00000346728.1	G	NM_004122	-		172165433	-1	no_errors	ENST00000241256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172165433	G	T	172165433	3	4	126	1	0	0	0	0	1	0	0	0	6377	1252	44	3	411	3	GHSR	3	172165433	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	37836354	172165433	25856997	16	9413											
ZFYVE28	57732	genome.wustl.edu	37	chr4	2307170	2307170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcgggtccctgcacGtctgcgcggatggggaactc	17	12	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:2307170G>A	ENST00000290974.2	-	8	1236	c.897C>T	c.(895-897)gaC>gaT	p.D299D	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.D269D|ZFYVE28_ENST00000515312.1_Silent_p.D229D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	299					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCCCTGCACGTCTGCGCGGA	0.647																																																	0								ENSG00000159733						45	44	44					4																	2307170		2203	4297	6500	ZFYVE28	SO:0001819	synonymous_variant	0			-	HGNC	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.897C>T	4.37:g.2307170G>A		Somatic	0	47	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.D299	ENST00000290974.2	37	c.897	CCDS33942.1	4																																																																																			-	NULL		0.647	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	protein_coding	OTTHUMT00000360078.1	G	XM_035371	-		2307170	-1	no_errors	ENST00000290974	ensembl	human	known	74_37	silent	SNP	0.000	A	A	2307170	G	A	2307170	2	1	126	1	0	0	0	0	0	0	0	1	17677	1136	40	1		1	ZFYVE28	4	2307170	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		2307170	188847106	17	9414											
SLC34A2	10568	genome.wustl.edu	37	chr4	25667869	25667869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacctcaacgtccatcGttgtcagcatggtgtcctct	8	15	3	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:25667869G>A	ENST00000382051.3	+	5	549	c.499G>A	c.(499-501)Gtt>Att	p.V167I	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V166I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V166I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	167					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AACGTCCATCGTTGTCAGCAT	0.572			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0								ENSG00000157765						115	100	105					4																	25667869		2203	4300	6503	SLC34A2	SO:0001583	missense	0			-	HGNC	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.499G>A	4.37:g.25667869G>A	ENSP00000371483:p.Val167Ile	Somatic	0	55	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP							pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt	p.V167I	ENST00000382051.3	37	c.499	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	6.006	0.369578	0.11352	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86030	-2.06;-2.06;-2.06	5.4	-5.45	0.02616	.	0.242536	0.42420	N	0.000706	T	0.68238	0.2979	N	0.16233	0.39	0.31660	N	0.645714	B;B	0.28584	0.216;0.05	B;B	0.27500	0.058;0.08	T	0.54997	-0.8209	9	.	.	.	-12.1217	14.2961	0.66314	0.4521:0.0:0.5479:0.0	.	166;167	O95436-2;O95436	.;NPT2B_HUMAN	I	166;167;166	ENSP00000425501:V166I;ENSP00000371483:V167I;ENSP00000423021:V166I	.	V	+	1	0	SLC34A2	25276967	0.002000	0.14202	0.452000	0.26994	0.276000	0.26787	-0.024000	0.12435	-1.166000	0.02783	-0.258000	0.10820	GTT	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.572	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	protein_coding	OTTHUMT00000214990.1	G	NM_006424	-		25667869	1	no_errors	ENST00000382051	ensembl	human	known	74_37	missense	SNP	0.988	A	A	25667869	G	A	25667869	3	1	126	1	0	0	0	0	1	0	0	0	14576	1145	40	1	513	1	SLC34A2	4	25667869	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	23360699	25667869	165486407	18	9415											
RBM47	54502	genome.wustl.edu	37	chr4	40440825	40440825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgcctcgttgggcGcgcccgccacgccctcgggc	15	18	0	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:40440825G>A	ENST00000381793.2	-	3	482	c.86C>T	c.(85-87)gCg>gTg	p.A29V	RBM47_ENST00000295971.7_Missense_Mutation_p.A29V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.A29V|RBM47_ENST00000319592.4_Missense_Mutation_p.A29V|RBM47_ENST00000514014.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	29					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTCGTTGGGCGCGCCCGCCAC	0.687																																																	0								ENSG00000163694						7	9	8					4																	40440825		2124	4116	6240	RBM47	SO:0001583	missense	0			-	HGNC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.86C>T	4.37:g.40440825G>A	ENSP00000371212:p.Ala29Val	Somatic	0	44	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.A29V	ENST00000381793.2	37	c.86	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	G	12.29	1.895000	0.33442	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180;ENST00000511598;ENST00000511902;ENST00000505220	T;T;T;T;T;T;T;T;T;T	0.65364	2.32;2.28;2.32;2.28;1.81;1.76;1.78;1.77;0.37;-0.15	5.78	5.78	0.91487	.	0.594426	0.19202	N	0.120178	T	0.52901	0.1763	L	0.41961	1.31	0.54753	D	0.999982	B;B	0.27971	0.196;0.007	B;B	0.17098	0.017;0.006	T	0.47182	-0.9137	10	0.29301	T	0.29	-27.5965	14.2018	0.65710	0.0712:0.0:0.9288:0.0	.	29;29	A0AV96-2;A0AV96	.;RBM47_HUMAN	V	29	ENSP00000320108:A29V;ENSP00000371212:A29V;ENSP00000371214:A29V;ENSP00000295971:A29V;ENSP00000422564:A29V;ENSP00000421589:A29V;ENSP00000423527:A29V;ENSP00000426542:A29V;ENSP00000423398:A29V;ENSP00000424019:A29V	ENSP00000295971:A29V	A	-	2	0	RBM47	40135582	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	6.794000	0.75135	2.740000	0.93945	0.313000	0.20887	GCG	-	tigrfam_HnRNP_R/Q_splicing_fac		0.687	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	protein_coding	OTTHUMT00000250456.2	G	NM_019027	-		40440825	-1	no_errors	ENST00000295971	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40440825	G	A	40440825	3	1	126	1	0	0	0	0	1	0	0	0	13149	1087	38	1	1711	1	RBM47	4	40440825	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	14772956	40440825	150713451	19	9416											
SLC30A9	10463	genome.wustl.edu	37	chr4	42003739	42003739	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtactccacaaatgttcaGaaagaaggacagggatcaca	9	8	2	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:42003739G>A	ENST00000264451.7	+	2	396	c.216G>A	c.(214-216)caG>caA	p.Q72Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	72					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAAATGTTCAGAAAGAAGGAC	0.353																																																	0								ENSG00000014824						94	88	90					4																	42003739		2203	4300	6503	SLC30A9	SO:0001819	synonymous_variant	0			-	HGNC	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.216G>A	4.37:g.42003739G>A		Somatic	0	74	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	108	13.60	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP							pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.Q72	ENST00000264451.7	37	c.216	CCDS3465.1	4																																																																																			-	NULL		0.353	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	protein_coding	OTTHUMT00000216842.3	G		-		42003739	1	no_errors	ENST00000264451	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42003739	G	A	42003739	2	1	126	1	0	0	0	0	0	0	0	1	14570	933	33	2		2	SLC30A9	4	42003739	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	1562914	42003739	149150537	20	9417											
KIT	3815	genome.wustl.edu	37	chr4	55602958	55602958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggaaggcttccggatgCtcagccctgaacacgcacct	10	14	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:55602958C>T	ENST00000288135.5	+	19	2765	c.2668C>T	c.(2668-2670)Ctc>Ttc	p.L890F		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	890	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CTTCCGGATGCTCAGCCCTGA	0.438		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																														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								ENSG00000157404						80	77	78					4																	55602958		2203	4300	6503	KIT	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)	-	HGNC	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.2668C>T	4.37:g.55602958C>T	ENSP00000288135:p.Leu890Phe	Somatic	0	44	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L890F	ENST00000288135.5	37	c.2668	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	C	4.289	0.052751	0.08291	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82893	-1.66;-1.66	5.59	3.78	0.43462	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.390655	0.21729	N	0.069989	T	0.67646	0.2915	L	0.37897	1.145	0.33120	D	0.541601	B;B	0.06786	0.001;0.001	B;B	0.14023	0.004;0.01	T	0.56498	-0.7969	10	0.11182	T	0.66	.	1.2394	0.01960	0.1689:0.4368:0.1648:0.2295	.	886;890	P10721-2;P10721	.;KIT_HUMAN	F	890;886	ENSP00000288135:L890F;ENSP00000390987:L886F	ENSP00000288135:L890F	L	+	1	0	KIT	55297715	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	1.195000	0.32186	0.625000	0.30304	0.655000	0.94253	CTC	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.438	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	C		-		55602958	1	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	SNP	0.964	T	T	55602958	C	T	55602958	3	4	126	1	0	0	0	0	1	0	0	0	8331	797	28	2	2742	2	KIT	4	55602958	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	13599219	55602958	135551318	21	9418											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73179453	73179453	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccacatgtccgagaacaGgagccaaatttagtccatga	9	10	0	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:73179453G>T	ENST00000286657.4	-	12	1722	c.1686C>A	c.(1684-1686)tcC>tcA	p.S562S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	562	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCGAGAACAGGAGCCAAATT	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)												0								ENSG00000156140						138	106	117					4																	73179453		2203	4300	6503	ADAMTS3	SO:0001819	synonymous_variant	0			-	HGNC	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1686C>A	4.37:g.73179453G>T		Somatic	0	84	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	A1L3U9|Q9BXZ8	Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.S562	ENST00000286657.4	37	c.1686	CCDS3553.1	4																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	G		-		73179453	-1	no_errors	ENST00000286657	ensembl	human	known	74_37	silent	SNP	1.000	T	T	73179453	G	T	73179453	2	4	126	1	0	0	0	0	0	0	0	1	267	987	35	3		3	ADAMTS3	4	73179453	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	17576495	73179453	117974823	22	9419											
CDKL2	8999	genome.wustl.edu	37	chr4	76532521	76532521	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggagactaatatattctCtggctttatatctctgtgta	8	7	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr4:76532521C>A	ENST00000429927.2	-	4	1091	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CDKL2_ENST00000307465.4_Nonsense_Mutation_p.E130*	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATATATTCTCTGGCTTTATA	0.428																																																	0								ENSG00000138769						70	66	68					4																	76532521		2203	4300	6503	CDKL2	SO:0001587	stop_gained	0			-	HGNC	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.388G>T	4.37:g.76532521C>A	ENSP00000412365:p.Glu130*	Somatic	0	43	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2R695	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E130*	ENST00000429927.2	37	c.388	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	c	43	10.030577	0.99321	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5158	16.975	0.86310	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000306340:E130X	E	-	1	0	CDKL2	76751545	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.663000	0.74431	2.605000	0.88082	0.639000	0.83563	GAG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.428	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	protein_coding	OTTHUMT00000252409.2	C	NM_003948	-		76532521	-1	no_errors	ENST00000429927	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	76532521	C	A	76532521	4	1	126	1	0	0	0	0	0	1	0	0	3156	922	32	3	1125	3	CDKL2	4	76532521	Nonsense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	3353068	76532521	114621755	23	9420											
RNASEN	29102	genome.wustl.edu	37	chr5	31526295	31526295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcggcctcgctcccgccGatccagggaccgatgcctct	11	18	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr5:31526295G>A	ENST00000511367.2	-	4	989	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	DROSHA_ENST00000442743.1_Missense_Mutation_p.R249W|DROSHA_ENST00000344624.3_Missense_Mutation_p.R249W|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Missense_Mutation_p.R249W	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	249	Arg-rich.				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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CGCTCCCGCCGATCCAGGGAC	0.587																																																	0								ENSG00000113360						101	105	104					5																	31526295		2003	4162	6165	DROSHA	SO:0001583	missense	0			-	HGNC	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.745C>T	5.37:g.31526295G>A	ENSP00000425979:p.Arg249Trp	Somatic	0	46	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.R249W	ENST00000511367.2	37	c.745	CCDS47195.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.83|16.83	3.231370|3.231370	0.58777|0.58777	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.56611|.	1.14;1.14;0.47;0.47;0.45|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.062798|.	0.64402|.	D|.	0.000010|.	T|T	0.55800|0.55800	0.1943|0.1943	L|L	0.27053|0.27053	0.805|0.805	0.51233|0.51233	D|D	0.99991|0.99991	D;D;D|.	0.89917|.	1.0;0.997;0.997|.	D;P;P|.	0.69654|.	0.965;0.73;0.73|.	T|T	0.52388|0.52388	-0.8582|-0.8582	10|5	0.87932|.	D|.	0|.	-12.0125|-12.0125	17.9467|17.9467	0.89040|0.89040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	249;249;249|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	W|L	249;249;249;249;242;242;47|78	ENSP00000425979:R249W;ENSP00000339845:R249W;ENSP00000409335:R249W;ENSP00000424161:R249W;ENSP00000428782:R47W|.	ENSP00000265075:R242W|.	R|S	-|-	1|2	2|0	DROSHA|DROSHA	31562052|31562052	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.980000|0.980000	0.70556|0.70556	3.812000|3.812000	0.55628|0.55628	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	CGG|TCG	-	NULL		0.587	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	G	NM_013235	-		31526295	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	SNP	0.996	A	A	31526295	G	A	31526295	3	1	126	1	0	0	0	0	1	0	0	0	13425	1057	37	1	3507	1	RNASEN	5	31526295	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		31526295	149388965	24	9421											
ERAP1	51752	genome.wustl.edu	37	chr5	96139198	96139198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgaatgacaactgtgtaCgggagcccgacaaggagggg	16	7	0	2	rs147576297		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr5:96139198C>T	ENST00000443439.2	-	2	498	c.432G>A	c.(430-432)ccG>ccA	p.P144P	CTD-2260A17.3_ENST00000606656.1_RNA|ERAP1_ENST00000296754.3_Silent_p.P144P|CTD-2260A17.3_ENST00000606346.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	144					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CAACTGTGTACGGGAGCCCGA	0.532																																																	0								ENSG00000164307						66	72	70					5																	96139198		2203	4300	6503	ERAP1	SO:0001819	synonymous_variant	0			-	HGNC	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.432G>A	5.37:g.96139198C>T		Somatic	0	52	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P144	ENST00000443439.2	37	c.432	CCDS47250.1	5																																																																																			-	pfam_Peptidase_M1_N		0.532	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	protein_coding	OTTHUMT00000370699.1	C	NM_016442	-		96139198	-1	no_errors	ENST00000296754	ensembl	human	known	74_37	silent	SNP	0.000	T	T	96139198	C	T	96139198	2	4	126	1	0	0	0	0	0	0	0	1	5205	523	19	1		1	ERAP1	5	96139198	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	64612903	96139198	84776062	25	9422											
NRG2	9542	genome.wustl.edu	37	chr5	139251347	139251347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgatgtagtagcagacGcctccattgacgcaatagga	10	12	0	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr5:139251347G>A	ENST00000361474.1	-	4	1295	c.1071C>T	c.(1069-1071)ggC>ggT	p.G357G	NRG2_ENST00000394770.1_Silent_p.G357G|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000545385.1_Silent_p.G357G|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289409.4_Silent_p.G357G|NRG2_ENST00000358522.3_Silent_p.G357G|NRG2_ENST00000289422.7_Silent_p.G357G|NRG2_ENST00000340391.3_Silent_p.G154G	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	357	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTAGCAGACGCCTCCATTGA	0.572																																																	0								ENSG00000158458						211	158	176					5																	139251347		2203	4300	6503	NRG2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1071C>T	5.37:g.139251347G>A		Somatic	0	95	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09		Silent	SNP							pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom	p.G357	ENST00000361474.1	37	c.1071	CCDS4217.1	5																																																																																			-	pfscan_EG-like_dom		0.572	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	protein_coding	OTTHUMT00000251340.1	G	NM_013982	-		139251347	-1	no_errors	ENST00000545385	ensembl	human	known	74_37	silent	SNP	0.936	A	A	139251347	G	A	139251347	2	1	126	1	0	0	0	0	0	0	0	1	10650	1074	38	1		1	NRG2	5	139251347	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	43112149	139251347	41663913	26	9423											
FLT4	2324	genome.wustl.edu	37	chr5	180030333	180030333	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgctcaggccgccgccgcctCccttgggagtcagggtgtgc	15	16	2	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr5:180030333C>G	ENST00000261937.6	-	30	4029	c.3951G>C	c.(3949-3951)ggG>ggC	p.G1317G		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1317					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|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)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCGCCGCCTCCCTTGGGAGT	0.627																																					Colon(97;1075 1466 27033 27547 35871)												0								ENSG00000037280						23	24	24					5																	180030333		2203	4300	6503	FLT4	SO:0001819	synonymous_variant	0			-	HGNC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3951G>C	5.37:g.180030333C>G		Somatic	0	116	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	77	16.13	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.G1317	ENST00000261937.6	37	c.3951	CCDS4457.1	5																																																																																			-	NULL		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	C		-		180030333	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	silent	SNP	0.144	G	G	180030333	C	G	180030333	2	3	126	1	0	0	0	0	0	0	0	1	5946	842	30	4		4	FLT4	5	180030333	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	40778986	180030333	884927	27	9424											
DNAH8	1769	genome.wustl.edu	37	chr6	38800097	38800097	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatattcttttttattgtaGgtttcagtacaagaggacct	8	5	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr6:38800097G>A	ENST00000359357.3	+	29	3791		c.e29-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTATTGTAGGTTTCAGTAC	0.333																																																	0								ENSG00000124721						84	76	79					6																	38800097		2203	4300	6503	DNAH8	SO:0001630	splice_region_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3538-1G>A	6.37:g.38800097G>A		Somatic	0	80	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	87	11.22	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP							-	e27-1	ENST00000359357.3	37	c.3538-1		6	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996061	0.54147	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.41	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2919	0.60276	0.0871:0.0:0.9129:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38908075	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.847000	0.75404	2.548000	0.85928	0.563000	0.77884	.	-	-		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-	Intron	38800097	1	no_errors	ENST00000359357	ensembl	human	known	74_37	splice_site	SNP	0.986	A	A	38800097	G	A	38800097	5	1	126	1	0	0	0	0	0	0	1	0	4609	1014	35	2	3643	2	DNAH8	6	38800097	Splice_Site	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		38800097	132314970	28	9425											
XPO5	57510	genome.wustl.edu	37	chr6	43491638	43491638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggtggccaggccaccccCatcattgtccagcacctccg	10	17	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr6:43491638C>A	ENST00000265351.7	-	32	3793	c.3583G>T	c.(3583-3585)Ggg>Tgg	p.G1195W	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1195					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGGCCACCCCCATCATTGTCC	0.478																																																	0								ENSG00000124571						103	106	105					6																	43491638		1931	4123	6054	XPO5	SO:0001583	missense	0			-	HGNC	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3583G>T	6.37:g.43491638C>A	ENSP00000265351:p.Gly1195Trp	Somatic	0	44	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP							pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.G1195W	ENST00000265351.7	37	c.3583	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755613	0.31046	.	.	ENSG00000124571	ENST00000265351;ENST00000439465	T	0.30714	1.52	5.81	4.94	0.65067	.	0.638046	0.16253	N	0.222626	T	0.06872	0.0175	N	0.08118	0	0.35701	D	0.815649	P	0.44044	0.825	B	0.32393	0.145	T	0.08806	-1.0704	10	0.54805	T	0.06	-2.7814	13.3675	0.60694	0.0:0.9273:0.0:0.0727	.	1195	Q9HAV4	XPO5_HUMAN	W	1195;823	ENSP00000265351:G1195W	ENSP00000265351:G1195W	G	-	1	0	XPO5	43599616	0.817000	0.29147	0.825000	0.32803	0.087000	0.18053	2.746000	0.47467	1.475000	0.48197	-0.157000	0.13467	GGG	-	NULL		0.478	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	protein_coding	OTTHUMT00000040657.2	C	NM_020750	-		43491638	-1	no_errors	ENST00000265351	ensembl	human	known	74_37	missense	SNP	0.997	A	A	43491638	C	A	43491638	3	1	126	1	0	0	0	0	1	0	0	0	17454	594	21	3	35	3	XPO5	6	43491638	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	4691541	43491638	127623429	29	9426											
DST	667	genome.wustl.edu	37	chr6	56397194	56397194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctatccaagagactgaGctgtttcaaaatcttcactt	6	10	4	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr6:56397194G>A	ENST00000361203.3	-	60	16430	c.16423C>T	c.(16423-16425)Ctc>Ttc	p.L5475F	DST_ENST00000370769.4_Missense_Mutation_p.L5477F|DST_ENST00000244364.6_Missense_Mutation_p.L3063F|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.L5151F|DST_ENST00000421834.2_Missense_Mutation_p.L3389F|DST_ENST00000370754.5_Missense_Mutation_p.L5655F|DST_ENST00000370788.2_Missense_Mutation_p.L3389F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5475					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)			AAGAGACTGAGCTGTTTCAAA	0.418																																																	0								ENSG00000151914						107	97	100					6																	56397194		1860	4097	5957	DST	SO:0001583	missense	0			-	HGNC	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.16423C>T	6.37:g.56397194G>A	ENSP00000354508:p.Leu5475Phe	Somatic	0	76	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	68	13.92	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							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L5655F	ENST00000361203.3	37	c.16963		6	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195661	0.58126	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.59	5.59	0.84812	.	0.000000	0.41938	D	0.000787	T	0.67088	0.2856	M	0.81682	2.555	0.33340	D	0.569715	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.981	D;D;D;D;D	0.91635	0.999;0.997;0.991;0.964;0.914	T	0.68716	-0.5335	9	0.45353	T	0.12	.	13.7289	0.62776	0.0798:0.0:0.9202:0.0	.	3389;5477;5655;5475;3063	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	3063;5655;5477;3389;5151;3389;5475	ENSP00000244364:L3063F;ENSP00000359790:L5655F;ENSP00000359805:L5477F;ENSP00000400883:L3389F;ENSP00000393645:L5151F;ENSP00000359824:L3389F;ENSP00000354508:L5475F	ENSP00000244364:L3063F	L	-	1	0	DST	56505153	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.306000	0.51881	2.810000	0.96702	0.586000	0.80456	CTC	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	G	NM_001723	-		56397194	-1	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56397194	G	A	56397194	3	1	126	1	0	0	0	0	1	0	0	0	4785	971	34	2	6488	2	DST	6	56397194	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	12905556	56397194	114717873	30	9427											
SYNE1	23345	genome.wustl.edu	37	chr6	152772193	152772193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacgtaccctgtgctcttTaattatcttttcactgcctt	6	11	3	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr6:152772193T>G	ENST00000367255.5	-	26	3776	c.3175A>C	c.(3175-3177)Aaa>Caa	p.K1059Q	SYNE1_ENST00000367253.4_Missense_Mutation_p.K1059Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1059Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1066Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1125Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1049Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1059Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1066Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1059					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)		CTGTGCTCTTTAATTATCTTT	0.433										HNSCC(10;0.0054)																																							0								ENSG00000131018						238	212	221					6																	152772193		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.3175A>C	6.37:g.152772193T>G	ENSP00000356224:p.Lys1059Gln	Somatic	0	44	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K1059Q	ENST00000367255.5	37	c.3175	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658035	0.29425	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87412	0.77;0.76;0.67;0.77;0.88;-2.11;-2.25;-2.25	5.87	0.408	0.16377	.	0.281373	0.30556	N	0.009369	T	0.54886	0.1886	N	0.16602	0.42	0.38119	D	0.937803	B;B;B;B;B;B	0.32467	0.136;0.043;0.072;0.372;0.043;0.072	B;B;B;B;B;B	0.24394	0.017;0.024;0.053;0.053;0.024;0.053	T	0.46105	-0.9215	10	0.32370	T	0.25	.	6.4301	0.21792	0.0:0.1878:0.2191:0.5931	.	1042;1059;1049;1059;1059;1066	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Q	1059;1066;1059;1066;1125;1059;1049;1059	ENSP00000356224:K1059Q;ENSP00000396024:K1066Q;ENSP00000265368:K1059Q;ENSP00000390975:K1066Q;ENSP00000341887:K1125Q;ENSP00000356222:K1059Q;ENSP00000356217:K1049Q;ENSP00000414510:K1059Q	ENSP00000265368:K1059Q	K	-	1	0	SYNE1	152813886	0.550000	0.26489	0.224000	0.23877	0.991000	0.79684	0.782000	0.26788	0.190000	0.20209	0.533000	0.62120	AAA	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	T	NM_182961	-		152772193	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.217	G	G	152772193	T	G	152772193	3	3	126	1	0	0	0	0	1	0	0	0	15452	1763	61	5	23775	5	SYNE1	6	152772193	Missense_Mutation	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09	96374999	152772193	18342874	31	9428											
IGF2R	3482	genome.wustl.edu	37	chr6	160491065	160491065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaaaagtcaaccaccatccGattcacctgcagcgagagcc	8	14	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr6:160491065G>T	ENST00000356956.1	+	31	4566	c.4418G>T	c.(4417-4419)cGa>cTa	p.R1473L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1473					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACCACCATCCGATTCACCTGC	0.532																																																	0								ENSG00000197081						99	81	87					6																	160491065		2203	4300	6503	IGF2R	SO:0001583	missense	0			-	HGNC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4418G>T	6.37:g.160491065G>T	ENSP00000349437:p.Arg1473Leu	Somatic	0	62	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q7Z7G9|Q96PT5	Missense_Mutation	SNP							pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.R1473L	ENST00000356956.1	37	c.4418	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559578	0.65538	.	.	ENSG00000197081	ENST00000356956	T	0.12465	2.68	5.62	3.67	0.42095	Mannose-6-phosphate receptor, binding (1);	0.175470	0.51477	D	0.000087	T	0.07234	0.0183	L	0.47716	1.5	0.54753	D	0.999984	B	0.28713	0.22	B	0.33521	0.165	T	0.08617	-1.0713	10	0.42905	T	0.14	-18.4459	12.1798	0.54206	0.0689:0.0:0.8029:0.1282	.	1473	P11717	MPRI_HUMAN	L	1473	ENSP00000349437:R1473L	ENSP00000349437:R1473L	R	+	2	0	IGF2R	160411055	1.000000	0.71417	0.100000	0.21137	0.751000	0.42716	3.938000	0.56583	1.382000	0.46385	0.561000	0.74099	CGA	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	G	NM_000876	-		160491065	1	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	SNP	0.226	T	T	160491065	G	T	160491065	3	4	126	1	0	0	0	0	1	0	0	0	7578	1058	37	3	4540	3	IGF2R	6	160491065	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	7718872	160491065	10624002	32	9429											
CPVL	54504	genome.wustl.edu	37	chr7	29160601	29160601	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggaaacacttctgtataggGagcgaaacagcccatcacag	10	10	2	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr7:29160601G>C	ENST00000409850.1	-	6	723	c.77C>G	c.(76-78)tCc>tGc	p.S26C	CPVL_ENST00000265394.5_Missense_Mutation_p.S26C|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.S26C			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	26						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTGTATAGGGAGCGAAACAG	0.483																																																	0								ENSG00000106066						102	93	96					7																	29160601		2203	4300	6503	CPVL	SO:0001583	missense	0			-	HGNC	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.77C>G	7.37:g.29160601G>C	ENSP00000387164:p.Ser26Cys	Somatic	0	66	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP							pfam_Peptidase_S10,prints_Peptidase_S10	p.S26C	ENST00000409850.1	37	c.77	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232772	0.58777	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000449801;ENST00000455544	T;T;T;T;T	0.49139	2.47;2.47;2.47;0.95;0.79	5.58	2.81	0.32909	.	0.962852	0.08662	N	0.912189	T	0.47637	0.1456	M	0.68317	2.08	0.09310	N	1	D	0.57571	0.98	B	0.43916	0.436	T	0.37430	-0.9706	10	0.54805	T	0.06	-1.7606	6.7391	0.23424	0.3412:0.0:0.6588:0.0	.	26	Q9H3G5	CPVL_HUMAN	C	26	ENSP00000265394:S26C;ENSP00000379572:S26C;ENSP00000387164:S26C;ENSP00000413287:S26C;ENSP00000412857:S26C	ENSP00000265394:S26C	S	-	2	0	CPVL	29127126	0.606000	0.26949	0.003000	0.11579	0.386000	0.30323	0.438000	0.21559	0.722000	0.32252	0.563000	0.77884	TCC	-	NULL		0.483	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	protein_coding	OTTHUMT00000328305.1	G	NM_019029	-		29160601	-1	no_errors	ENST00000265394	ensembl	human	known	74_37	missense	SNP	0.005	C	C	29160601	G	C	29160601	3	2	126	1	0	0	0	0	1	0	0	0	3837	1174	41	4	1401	4	CPVL	7	29160601	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		29160601	129978062	33	9430											
TECPR1	25851	genome.wustl.edu	37	chr7	97860661	97860661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggaccagcgccaccaCctcattcaggaatatgtgga	10	13	2	0	rs547498286		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr7:97860661C>T	ENST00000447648.2	-	14	2298	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	TECPR1_ENST00000379795.3_Missense_Mutation_p.V668M|TECPR1_ENST00000542604.1_Missense_Mutation_p.V597M|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	667	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCGCCACCACCTCATTCAGG	0.632																																																	0								ENSG00000205356						48	53	51					7																	97860661		2078	4200	6278	TECPR1	SO:0001583	missense	0			-	HGNC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1999G>A	7.37:g.97860661C>T	ENSP00000404923:p.Val667Met	Somatic	0	70	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP							pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.V668M	ENST00000447648.2	37	c.2002	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735571	0.49045	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.42900	1.01;1.01;0.96	4.84	4.84	0.62591	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.66939	2.045	0.45139	D	0.998156	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.68345	-0.5433	10	0.87932	D	0	-19.8106	16.9131	0.86144	0.0:1.0:0.0:0.0	.	597;667	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	M	667;668;597	ENSP00000404923:V667M;ENSP00000369121:V668M;ENSP00000441121:V597M	ENSP00000369121:V668M	V	-	1	0	TECPR1	97698597	1.000000	0.71417	0.999000	0.59377	0.003000	0.03518	6.032000	0.70918	2.229000	0.72834	0.462000	0.41574	GTG	-	NULL		0.632	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	protein_coding	OTTHUMT00000334661.1	C	NM_015395	-		97860661	-1	no_errors	ENST00000379795	ensembl	human	known	74_37	missense	SNP	1.000	T	T	97860661	C	T	97860661	3	4	126	1	0	0	0	0	1	0	0	0	15750	507	18	2	1550	2	TECPR1	7	97860661	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	68700060	97860661	61278002	34	9431											
MGAM	8972	genome.wustl.edu	37	chr7	141708495	141708495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattgcatccctgaccagcCgccaacaaaggtttgagtta	8	11	0	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr7:141708495C>T	ENST00000549489.2	+	3	412	c.317C>T	c.(316-318)cCg>cTg	p.P106L	MGAM_ENST00000475668.2_Missense_Mutation_p.P106L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	106	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGACCAGCCGCCAACAAAG	0.368																																																	0								ENSG00000257335						62	62	62					7																	141708495		1852	4096	5948	MGAM	SO:0001583	missense	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.317C>T	7.37:g.141708495C>T	ENSP00000447378:p.Pro106Leu	Somatic	0	56	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P106L	ENST00000549489.2	37	c.317	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	1.016	-0.686451	0.03328	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.88509	-0.66;-2.39;0.74	4.33	1.54	0.23209	P-type trefoil, conserved site (1);P-type trefoil (4);	1.400010	0.04991	N	0.467247	T	0.78175	0.4242	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62086	-0.6928	10	0.18276	T	0.48	.	3.8241	0.08848	0.1907:0.6088:0.0:0.2005	.	106	O43451	MGA_HUMAN	L	106	ENSP00000419372:P106L;ENSP00000447378:P106L;ENSP00000417103:P106L	ENSP00000373973:P106L	P	+	2	0	MGAM	141354964	0.047000	0.20315	0.069000	0.20011	0.892000	0.51952	0.275000	0.18698	0.356000	0.24157	-0.897000	0.02905	CCG	-	pfam_P_trefoil,smart_P_trefoil		0.368	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	C		-		141708495	1	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	SNP	0.076	T	T	141708495	C	T	141708495	3	4	126	1	0	0	0	0	1	0	0	0	9543	652	23	1	323	1	MGAM	7	141708495	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	43847834	141708495	17430168	35	9432											
TTC35	9694	genome.wustl.edu	37	chr8	109491286	109491286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caagtgcaaaaacgaaaaagGacaacatgaaatatgctagt	8	6	0	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr8:109491286G>T	ENST00000220853.3	+	10	789	c.754G>T	c.(754-756)Gac>Tac	p.D252Y	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	252						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AACGAAAAAGGACAACATGAA	0.318																																																	0								ENSG00000104412						140	126	131					8																	109491286		2203	4300	6503	EMC2	SO:0001583	missense	0			-	HGNC	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.754G>T	8.37:g.109491286G>T	ENSP00000220853:p.Asp252Tyr	Somatic	0	32	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q8WUE1	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D252Y	ENST00000220853.3	37	c.754	CCDS6309.1	8	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844536	0.91197	.	.	ENSG00000104412	ENST00000220853	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.54499	0.754	T	0.77993	-0.2378	9	0.87932	D	0	-18.6323	20.3552	0.98837	0.0:0.0:1.0:0.0	.	252	Q15006	TTC35_HUMAN	Y	252	.	ENSP00000220853:D252Y	D	+	1	0	TTC35	109560462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.534000	0.82004	2.812000	0.96745	0.557000	0.71058	GAC	-	NULL		0.318	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	protein_coding	OTTHUMT00000380717.1	G	NM_014673	-		109491286	1	no_errors	ENST00000220853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109491286	G	T	109491286	3	4	126	1	0	0	0	0	1	0	0	0	16710	1174	41	3	792	3	TTC35	8	109491286	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		109491286	36872736	36	9433											
FRMPD1	22844	genome.wustl.edu	37	chr9	37740268	37740268	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcggggccagcagcacGacagacagtgccgagtccga	14	14	0	1	rs369271811		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr9:37740268G>A	ENST00000539465.1	+	15	2336	c.1743G>A	c.(1741-1743)acG>acA	p.T581T	FRMPD1_ENST00000536622.1_Silent_p.T403T|FRMPD1_ENST00000541302.1_Silent_p.T450T|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.T581T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	581						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCAGCAGCACGACAGACAGTG	0.647																																																	0								ENSG00000070601	G		1,4405	2.1+/-5.4	0,1,2202	31	35	34		1743	-5.5	0	9		34	0,8600		0,0,4300	no	coding-synonymous	FRMPD1	NM_014907.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		581/1579	37740268	1,13005	2203	4300	6503	FRMPD1	SO:0001819	synonymous_variant	0			-	HGNC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1743G>A	9.37:g.37740268G>A		Somatic	0	36	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP							pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.T581	ENST00000539465.1	37	c.1743	CCDS6612.1	9																																																																																			-	NULL		0.647	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	protein_coding	OTTHUMT00000402969.1	G	NM_014907	-		37740268	1	no_errors	ENST00000377765	ensembl	human	known	74_37	silent	SNP	0.000	A	A	37740268	G	A	37740268	2	1	126	1	0	0	0	0	0	0	0	1	6059	1045	37	1		1	FRMPD1	9	37740268	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		37740268	103473163	37	9434											
NAIF1	203245	genome.wustl.edu	37	chr9	130825710	130825710	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgacccctgccctcaCtggatgatgctgtctggctg	12	14	2	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr9:130825710C>G	ENST00000373078.4	-	2	1200	c.981G>C	c.(979-981)caG>caC	p.Q327H	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	327					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTGCCCTCACTGGATGATGC	0.607																																																	0								ENSG00000171169						40	46	44					9																	130825710		2203	4299	6502	NAIF1	SO:0001583	missense	0			-	HGNC	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.981G>C	9.37:g.130825710C>G	ENSP00000362170:p.Gln327His	Somatic	0	53	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	B3KV81|Q8WU12	Missense_Mutation	SNP							NULL	p.Q327H	ENST00000373078.4	37	c.981	CCDS6889.1	9	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654250	0.67472	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.3	-0.486	0.12064	.	0.352939	0.29908	N	0.010882	T	0.54549	0.1865	L	0.27053	0.805	0.34452	D	0.700781	D	0.55605	0.972	D	0.70487	0.969	T	0.64110	-0.6484	9	0.87932	D	0	-2.1812	11.108	0.48214	0.0:0.6231:0.0:0.3769	.	327	Q69YI7	NAIF1_HUMAN	H	327	.	ENSP00000362170:Q327H	Q	-	3	2	NAIF1	129865531	0.082000	0.21442	0.997000	0.53966	0.958000	0.62258	-1.145000	0.03194	-0.002000	0.14469	0.563000	0.77884	CAG	-	NULL		0.607	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	protein_coding	OTTHUMT00000054330.1	C	NM_197956	-		130825710	-1	no_errors	ENST00000373078	ensembl	human	known	74_37	missense	SNP	0.998	G	G	130825710	C	G	130825710	3	3	126	1	0	0	0	0	1	0	0	0	10148	564	20	4	6	4	NAIF1	9	130825710	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	93085442	130825710	10387721	38	9435											
LRRC8A	56262	genome.wustl.edu	37	chr9	131670884	131670884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctctaccacacagcgGccaagattgaagcgcccgcg	12	14	1	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr9:131670884G>T	ENST00000259324.5	+	3	1964	c.1441G>T	c.(1441-1443)Gcc>Tcc	p.A481S	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A481S|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A481S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	481					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCACACAGCGGCCAAGATTGA	0.622																																																	0								ENSG00000136802						18	18	18					9																	131670884		2196	4296	6492	LRRC8A	SO:0001583	missense	0			-	HGNC	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1441G>T	9.37:g.131670884G>T	ENSP00000259324:p.Ala481Ser	Somatic	0	21	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A481S	ENST00000259324.5	37	c.1441	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782010	0.49891	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.24538	1.85;1.85;1.85	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.55481	1.735	0.80722	D	1	D	0.61080	0.989	P	0.45167	0.472	T	0.07424	-1.0773	10	0.54805	T	0.06	.	18.4034	0.90525	0.0:0.0:1.0:0.0	.	481	Q8IWT6	LRC8A_HUMAN	S	481	ENSP00000361682:A481S;ENSP00000361680:A481S;ENSP00000259324:A481S	ENSP00000259324:A481S	A	+	1	0	LRRC8A	130710705	1.000000	0.71417	0.958000	0.39756	0.235000	0.25334	9.869000	0.99810	2.595000	0.87683	0.561000	0.74099	GCC	-	NULL		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	protein_coding	OTTHUMT00000054516.2	G	NM_019594	-		131670884	1	no_errors	ENST00000259324	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131670884	G	T	131670884	3	4	126	1	0	0	0	0	1	0	0	0	9023	1203	42	3	1443	3	LRRC8A	9	131670884	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	845174	131670884	9542547	39	9436											
TOR1A	1861	genome.wustl.edu	37	chr9	132584885	132584885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtgatgtttgaagcaTgtggaaagtgcaatgtggcc	14	5	0	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr9:132584885T>C	ENST00000351698.4	-	2	467	c.419A>G	c.(418-420)cAt>cGt	p.H140R	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	140	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GTTTGAAGCATGTGGAAAGTG	0.463																																																	0								ENSG00000136827						139	112	121					9																	132584885		2203	4300	6503	TOR1A	SO:0001583	missense	0			-	HGNC	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.419A>G	9.37:g.132584885T>C	ENSP00000345719:p.His140Arg	Somatic	0	81	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP							pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.H140R	ENST00000351698.4	37	c.419	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698360	0.48307	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.39406	1.08	5.32	5.32	0.75619	.	0.089860	0.85682	D	0.000000	T	0.65964	0.2742	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79784	0.99;0.993	T	0.70425	-0.4875	10	0.59425	D	0.04	-9.7982	14.4685	0.67499	0.0:0.0:0.0:1.0	.	140;140	O14656-2;O14656	.;TOR1A_HUMAN	R	109;140	ENSP00000345719:H140R	ENSP00000345719:H140R	H	-	2	0	TOR1A	131624706	1.000000	0.71417	0.059000	0.19551	0.020000	0.10135	7.694000	0.84235	2.022000	0.59522	0.459000	0.35465	CAT	-	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr		0.463	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	protein_coding	OTTHUMT00000054611.1	T	NM_000113	-		132584885	-1	no_errors	ENST00000351698	ensembl	human	known	74_37	missense	SNP	0.997	C	C	132584885	T	C	132584885	3	2	126	1	0	0	0	0	1	0	0	0	16378	1464	51	5	595	5	TOR1A	9	132584885	Missense_Mutation	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09	914001	132584885	8628546	40	9437											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98412517	98412517	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccatccttacagagggaGaatcctcaggagaaaactct	8	11	2	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr10:98412517G>T	ENST00000339364.5	-	4	769	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S39Y	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	217	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TACAGAGGGAGAATCCTCAGG	0.493																																																	0								ENSG00000155629						165	155	159					10																	98412517		2203	4300	6503	PIK3AP1	SO:0001583	missense	0			-	HGNC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.650C>A	10.37:g.98412517G>T	ENSP00000339826:p.Ser217Tyr	Somatic	0	51	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.S217Y	ENST00000339364.5	37	c.650	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214308	0.58452	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.19532	2.79;2.14	6.03	6.03	0.97812	DBB domain (1);	0.441395	0.24523	N	0.037785	T	0.37652	0.1011	L	0.58101	1.795	0.58432	D	0.999999	D	0.59767	0.986	P	0.54100	0.742	T	0.02901	-1.1096	10	0.72032	D	0.01	-14.8626	17.7156	0.88336	0.0:0.0:1.0:0.0	.	217	Q6ZUJ8	BCAP_HUMAN	Y	217;39	ENSP00000339826:S217Y;ENSP00000360151:S39Y	ENSP00000339826:S217Y	S	-	2	0	PIK3AP1	98402507	0.565000	0.26610	0.995000	0.50966	0.553000	0.35397	1.316000	0.33620	2.868000	0.98415	0.555000	0.69702	TCT	-	NULL		0.493	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	protein_coding	OTTHUMT00000049619.2	G	NM_152309	-		98412517	-1	no_errors	ENST00000339364	ensembl	human	known	74_37	missense	SNP	0.589	T	T	98412517	G	T	98412517	3	4	126	1	0	0	0	0	1	0	0	0	11910	942	33	3	1823	3	PIK3AP1	10	98412517	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		98412517	37122230	41	9438											
MKI67	4288	genome.wustl.edu	37	chr10	129903472	129903472	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtagttttctcatgagtcGtgggcttgtcagtgcatatt	12	6	2	1	rs193266380		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr10:129903472G>C	ENST00000368654.3	-	13	7007	c.6632C>G	c.(6631-6633)aCg>aGg	p.T2211R	MKI67_ENST00000368653.3_Missense_Mutation_p.T1851R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2211	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCATGAGTCGTGGGCTTGTC	0.502																																																	0								ENSG00000148773						238	229	232					10																	129903472		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6632C>G	10.37:g.129903472G>C	ENSP00000357643:p.Thr2211Arg	Somatic	0	104	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	96	14.29	Q5VWH2	Missense_Mutation	SNP							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T2211R	ENST00000368654.3	37	c.6632	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395332	0.25205	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01279	5.08;5.06	2.65	-1.17	0.09648	.	1.762890	0.03255	N	0.182393	T	0.03564	0.0102	L	0.44542	1.39	0.09310	N	1	P;D;D	0.89917	0.907;1.0;0.987	B;D;P	0.68943	0.291;0.961;0.67	T	0.44862	-0.9300	10	0.16896	T	0.51	.	2.3456	0.04271	0.3201:0.0:0.2774:0.4025	.	2210;1851;2211	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2211;1851;2210	ENSP00000357643:T2211R;ENSP00000357642:T1851R	ENSP00000357642:T1851R	T	-	2	0	MKI67	129793462	0.041000	0.20044	0.000000	0.03702	0.001000	0.01503	-0.016000	0.12613	-0.256000	0.09473	-0.367000	0.07326	ACG	-	NULL		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129903472	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	C	C	129903472	G	C	129903472	3	2	126	1	0	0	0	0	1	0	0	0	9600	1145	40	4	3150	4	MKI67	10	129903472	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	31490955	129903472	5631275	42	9439											
OR52K1	390036	genome.wustl.edu	37	chr11	4511039	4511039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaccaagcagattcgtgaGtatgtgctcagtctattcca	9	9	2	3	rs540359247		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr11:4511039G>T	ENST00000307632.3	+	1	931	c.909G>T	c.(907-909)gaG>gaT	p.E303D		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	303						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGATTCGTGAGTATGTGCTCA	0.438																																																	0								ENSG00000196778						120	111	114					11																	4511039		2201	4298	6499	OR52K1	SO:0001583	missense	0			-	HGNC	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.909G>T	11.37:g.4511039G>T	ENSP00000302422:p.Glu303Asp	Somatic	0	56	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B9EH54|Q6IFK5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E303D	ENST00000307632.3	37	c.909	CCDS31352.1	11	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.300186	0.01364	.	.	ENSG00000196778	ENST00000307632	T	0.37584	1.19	4.5	-1.15	0.09709	.	0.434403	0.19381	N	0.115675	T	0.13970	0.0338	N	0.11892	0.195	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31503	-0.9941	10	0.07175	T	0.84	.	6.3969	0.21616	0.1129:0.0727:0.5674:0.247	.	303	Q8NGK4	O52K1_HUMAN	D	303	ENSP00000302422:E303D	ENSP00000302422:E303D	E	+	3	2	OR52K1	4467615	0.000000	0.05858	0.013000	0.15412	0.009000	0.06853	-6.552000	0.00061	-0.638000	0.05509	-0.690000	0.03725	GAG	-	NULL		0.438	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K1	protein_coding	OTTHUMT00000385846.1	G	NM_001005171	-		4511039	1	no_errors	ENST00000307632	ensembl	human	known	74_37	missense	SNP	0.001	T	T	4511039	G	T	4511039	3	4	126	1	0	0	0	0	1	0	0	0	11125	1020	36	3	911	3	OR52K1	11	4511039	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		4511039	130495477	43	9440											
OR51D1	390038	genome.wustl.edu	37	chr11	4661220	4661220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcattcgtgtggagaggcGactgcatgagcccatgtacc	12	11	1	2	rs138099428		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr11:4661220G>A	ENST00000357605.2	+	1	276	c.200G>A	c.(199-201)cGa>cAa	p.R67Q		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, 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)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGAGAGGCGACTGCATGAG	0.512																																																	0								ENSG00000197428	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	203	151	169		200	0.5	0	11	dbSNP_134	169	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR51D1	NM_001004751.2	43	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	benign	67/325	4661220	2,12996	2201	4298	6499	OR51D1	SO:0001583	missense	0			-	HGNC	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.200G>A	11.37:g.4661220G>A	ENSP00000350222:p.Arg67Gln	Somatic	0	68	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.03	B9EIK4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R67Q	ENST00000357605.2	37	c.200	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	G	6.073	0.381861	0.11524	2.27E-4	1.16E-4	ENSG00000197428	ENST00000357605	T	0.00374	7.72	4.71	0.466	0.16716	GPCR, rhodopsin-like superfamily (1);	0.903328	0.09280	N	0.823875	T	0.00241	0.0007	L	0.28649	0.875	0.09310	N	1	B	0.22541	0.071	B	0.22152	0.038	T	0.34825	-0.9813	10	0.87932	D	0	.	6.93	0.24435	0.2353:0.1275:0.6372:0.0	.	67	Q8NGF3	O51D1_HUMAN	Q	67	ENSP00000350222:R67Q	ENSP00000350222:R67Q	R	+	2	0	OR51D1	4617796	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.745000	0.26259	0.301000	0.22738	-0.448000	0.05591	CGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	protein_coding	OTTHUMT00000385956.1	G	NM_001004751	rs138099428		4661220	1	no_errors	ENST00000357605	ensembl	human	known	74_37	missense	SNP	0.000	A	A	4661220	G	A	4661220	3	1	126	1	0	0	0	0	1	0	0	0	11095	1058	37	1	202	1	OR51D1	11	4661220	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	150181	4661220	130345296	44	9441											
C11orf41	25758	genome.wustl.edu	37	chr11	33566726	33566726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacctggagatgcccagaGcatccacgccacgcccactg	9	18	0	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr11:33566726G>T	ENST00000321505.4	+	2	2476	c.2296G>T	c.(2296-2298)Gca>Tca	p.A766S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A772S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A772S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	766						integral component of membrane (GO:0016021)											GATGCCCAGAGCATCCACGCC	0.597																																																	0								ENSG00000110427						112	140	130					11																	33566726		2176	4275	6451	KIAA1549L	SO:0001583	missense	0			-	HGNC	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.2296G>T	11.37:g.33566726G>T	ENSP00000315295:p.Ala766Ser	Somatic	0	43	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B0QYU0	Missense_Mutation	SNP							NULL	p.A772S	ENST00000321505.4	37	c.2314	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.803141|1.803141	0.31869|0.31869	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.0|5.0	2.91|2.91	0.33838|0.33838	.|.	0.470251|.	0.19005|.	N|.	0.125235|.	T|T	0.34658|0.34658	0.0905|0.0905	L|L	0.44542|0.44542	1.39|1.39	0.24021|0.24021	N|N	0.99614|0.99614	B;P|.	0.38078|.	0.278;0.617|.	B;B|.	0.30855|.	0.039;0.121|.	T|T	0.23332|0.23332	-1.0191|-1.0191	9|5	0.32370|.	T|.	0.25|.	-0.4121|-0.4121	3.3943|3.3943	0.07300|0.07300	0.1772:0.2838:0.539:0.0|0.1772:0.2838:0.539:0.0	.|.	772;772|.	E9PAT2;Q6ZVL6-2|.	.;.|.	S|D	766;772;772;605|163	.|.	ENSP00000265654:A772S|.	A|E	+|+	1|3	0|2	C11orf41|C11orf41	33523302|33523302	0.993000|0.993000	0.37304|0.37304	0.316000|0.316000	0.25252|0.25252	0.952000|0.952000	0.60782|0.60782	2.776000|2.776000	0.47709|0.47709	1.290000|1.290000	0.44636|0.44636	0.561000|0.561000	0.74099|0.74099	GCA|GAG	-	NULL		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	protein_coding	OTTHUMT00000317998.1	G	NM_012194	-		33566726	1	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	SNP	0.760	T	T	33566726	G	T	33566726	3	4	126	1	0	0	0	0	1	0	0	0	1642	971	34	3	2320	3	C11orf41	11	33566726	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	28905506	33566726	101439790	45	9442											
RELA	5970	genome.wustl.edu	37	chr11	65425869	65425869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggctggggtctgcgtaggGaggggtccggaacacaatgg	19	8	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr11:65425869G>A	ENST00000406246.3	-	8	1027	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	RELA_ENST00000308639.9_Missense_Mutation_p.P253S|RELA_ENST00000525693.1_Missense_Mutation_p.P256S	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	256	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|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)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|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 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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCTGCGTAGGGAGGGGTCCGG	0.622																																																	0								ENSG00000173039						85	79	81					11																	65425869		2201	4297	6498	RELA	SO:0001583	missense	0			-	HGNC	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.766C>T	11.37:g.65425869G>A	ENSP00000384273:p.Pro256Ser	Somatic	0	51	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.30	Q6GTV1|Q6SLK1	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.P256S	ENST00000406246.3	37	c.766	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950267	0.73787	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.065076	0.64402	D	0.000007	T	0.66799	0.2826	M	0.77820	2.39	0.58432	D	0.999995	B;D;D;D;P;B	0.59767	0.342;0.986;0.986;0.977;0.95;0.442	B;P;P;P;B;B	0.51385	0.121;0.668;0.668;0.467;0.371;0.08	T	0.72020	-0.4416	10	0.66056	D	0.02	-17.8222	11.8732	0.52531	0.0:0.1763:0.8236:0.0	.	246;243;253;256;267;256	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	S	256;256;253;267;267	ENSP00000384273:P256S;ENSP00000432537:P256S;ENSP00000311508:P253S;ENSP00000433526:P267S	ENSP00000311508:P253S	P	-	1	0	RELA	65182445	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.257000	0.65473	2.397000	0.81536	0.555000	0.69702	CCC	-	superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	protein_coding	OTTHUMT00000390457.2	G	NM_021975	-		65425869	-1	no_errors	ENST00000406246	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65425869	G	A	65425869	3	1	126	1	0	0	0	0	1	0	0	0	13224	1174	41	2	905	2	RELA	11	65425869	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	31859143	65425869	69580647	46	9443											
BLID	414899	genome.wustl.edu	37	chr11	121986407	121986407	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacattccgcttcatggcaGaggagccaagattgtacctt	10	10	1	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr11:121986407G>T	ENST00000560104.1	-	1	516	c.224C>A	c.(223-225)tCt>tAt	p.S75Y		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	75					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		CTTCATGGCAGAGGAGCCAAG	0.473											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000259571						165	164	164					11																	121986407		2202	4299	6501	BLID	SO:0001583	missense	0			-	HGNC	AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"breast cancer cell 2"	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.224C>A	11.37:g.121986407G>T	ENSP00000453153:p.Ser75Tyr	Somatic	0	56	0	1515	0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A1L416	Missense_Mutation	SNP							NULL	p.S75Y	ENST00000560104.1	37	c.224	CCDS31693.1	11	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039742	0.19669	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	4.19	-0.0419	0.13865	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.47981	0.563	T	0.14811	-1.0459	8	0.87932	D	0	.	6.3598	0.21422	0.5274:0.0:0.4726:0.0	.	75	Q8IZY5	BLID_HUMAN	Y	75	.	ENSP00000448995:S75Y	S	-	2	0	BLID;AP001924.1	121491617	0.011000	0.17503	0.000000	0.03702	0.003000	0.03518	0.381000	0.20619	0.002000	0.14630	-0.229000	0.12294	TCT	-	NULL		0.473	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLID	protein_coding	OTTHUMT00000387656.1	G	NM_001001786	-		121986407	-1	no_errors	ENST00000560104	ensembl	human	known	74_37	missense	SNP	0.000	T	T	121986407	G	T	121986407	3	4	126	1	0	0	0	0	1	0	0	0	1443	942	33	3	106	3	BLID	11	121986407	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	56560538	121986407	13020109	47	9444											
CACNA1C	775	genome.wustl.edu	37	chr12	2786965	2786965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctggagatctcaccGctgaggaggagctggacaag	13	11	2	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr12:2786965G>A	ENST00000347598.4	+	43	5167	c.5167G>A	c.(5167-5169)Gct>Act	p.A1723T	CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1703T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1681T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1675T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1683T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1716T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1700T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1692T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1683T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1695T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1675T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1723					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATCTCACCGCTGAGGAGGA	0.612																																																	0								ENSG00000151067						54	61	59					12																	2786965		2125	4242	6367	CACNA1C	SO:0001583	missense	0			-	HGNC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5167G>A	12.37:g.2786965G>A	ENSP00000266376:p.Ala1723Thr	Somatic	0	87	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A1675T	ENST00000347598.4	37	c.5023	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383524	0.25031	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.86;-3.86;-3.86;-3.86;-3.86;-3.89;-3.78;-3.82;-3.86;-3.79;-3.78;-3.86;-3.92;-3.78;-3.7;-3.94;-3.88;-3.86;-3.89;-3.79;-3.89;-3.93	4.62	4.62	0.57501	.	292.508000	0.00166	N	0.000001	D	0.96009	0.8700	L	0.43152	1.355	0.51767	D	0.999938	P;D;P;B;D;P;P;D;B;B;D;P;B;P;P;P;D;B;D;B;P;D;D;P;P	0.63046	0.829;0.99;0.907;0.222;0.992;0.939;0.847;0.966;0.33;0.031;0.966;0.907;0.227;0.939;0.85;0.829;0.975;0.224;0.966;0.194;0.948;0.966;0.966;0.926;0.907	B;P;B;B;P;B;B;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.52856	0.21;0.49;0.131;0.018;0.711;0.407;0.121;0.407;0.027;0.012;0.407;0.131;0.04;0.407;0.122;0.283;0.455;0.027;0.245;0.027;0.09;0.407;0.407;0.307;0.131	D	0.86669	0.1909	10	0.16896	T	0.51	.	17.6395	0.88131	0.0:0.0:1.0:0.0	.	366;1716;1672;1723;1675;1694;1675;1692;1703;1675;1695;1675;1635;1723;1675;1675;1675;1683;1681;1683;1664;1694;1694;1675;1675	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	1700;1675;1675;1703;1675;1694;1694;1683;1675;1723;1695;1675;1716;1692;1675;1681;1694;1675;1675;1675;1675;1683;1505	ENSP00000336982:A1700T;ENSP00000382563:A1675T;ENSP00000382552:A1675T;ENSP00000382547:A1703T;ENSP00000382506:A1675T;ENSP00000382530:A1694T;ENSP00000382546:A1694T;ENSP00000382500:A1683T;ENSP00000382549:A1675T;ENSP00000266376:A1723T;ENSP00000382515:A1695T;ENSP00000382510:A1675T;ENSP00000341092:A1716T;ENSP00000382537:A1692T;ENSP00000329877:A1675T;ENSP00000382557:A1681T;ENSP00000385724:A1694T;ENSP00000382512:A1675T;ENSP00000382542:A1675T;ENSP00000382526:A1675T;ENSP00000385896:A1675T;ENSP00000382504:A1683T	ENSP00000323129:A1505T	A	+	1	0	CACNA1C	2657226	1.000000	0.71417	0.038000	0.18304	0.077000	0.17291	9.130000	0.94437	2.402000	0.81655	0.467000	0.42956	GCT	-	NULL		0.612	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	protein_coding	OTTHUMT00000317035.1	G	NM_000719	-		2786965	1	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	SNP	0.953	A	A	2786965	G	A	2786965	3	1	126	1	0	0	0	0	1	0	0	0	2542	1087	38	1	5568	1	CACNA1C	12	2786965	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		2786965	131064930	48	9445											
GPR19	2842	genome.wustl.edu	37	chr12	12815066	12815066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaggtcagcacatgccatgGagaccacaaagtagttggtg	13	8	1	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr12:12815066G>T	ENST00000540510.1	-	2	509	c.317C>A	c.(316-318)tCc>tAc	p.S106Y	GPR19_ENST00000332427.2_Missense_Mutation_p.S106Y			P46093	GPR4_HUMAN	G protein-coupled receptor 19	58					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		ACATGCCATGGAGACCACAAA	0.522																																																	0								ENSG00000183150						137	121	127					12																	12815066		2203	4300	6503	GPR19	SO:0001583	missense	0			-	HGNC		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.317C>A	12.37:g.12815066G>T	ENSP00000441832:p.Ser106Tyr	Somatic	0	38	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S106Y	ENST00000540510.1	37	c.317	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498064	0.64186	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.40225	1.04;1.04	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79393	-0.1822	10	0.87932	D	0	-26.8714	18.7133	0.91666	0.0:0.0:1.0:0.0	.	106	Q15760	GPR19_HUMAN	Y	106	ENSP00000441832:S106Y;ENSP00000333744:S106Y	ENSP00000333744:S106Y	S	-	2	0	GPR19	12706333	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	9.349000	0.97066	2.744000	0.94065	0.655000	0.94253	TCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.522	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	protein_coding	OTTHUMT00000400662.1	G	NM_006143	-		12815066	-1	no_errors	ENST00000332427	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12815066	G	T	12815066	3	4	126	1	0	0	0	0	1	0	0	0	6681	1174	41	3	934	3	GPR19	12	12815066	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	10028101	12815066	121036829	49	9446											
PLBD1	79887	genome.wustl.edu	37	chr12	14720555	14720557	+	In_Frame_Del	DEL	GCA	GCA	-													cgcggtgactaacaacagcgGcagcagcagcagcagcagca					rs71669631|rs149862451|rs147342083		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr12:14720555_14720557delGCA	ENST00000240617.5	-	1	726_728	c.74_76delTGC	c.(73-78)ctgccg>ccg	p.L25del	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	25					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|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)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AAcaacagcggcagcagcagcag	0.744																																																	0								ENSG00000121316																																			PLBD1	SO:0001651	inframe_deletion	0				HGNC	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.74_76delTGC	12.37:g.14720564_14720566delGCA	ENSP00000240617:p.Leu25del	Somatic	0	10	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	A8K4E9|Q9BVV3|Q9H625	In_Frame_Del	DEL							pfam_PLipase_B-like	p.L25in_frame_del	ENST00000240617.5	37	c.76_74	CCDS31751.1	12																																																																																			-	NULL		0.744	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	protein_coding	OTTHUMT00000401203.1	GCA	NM_024829			14720557	-1	no_errors	ENST00000240617	ensembl	human	known	74_37	in_frame_del	DEL	0.009:0.005:0.008	-	-	14720557	GCA	-	14720555	7	5	126	1	0	1	0	1	0	0	0	0	12027	1203	42	0	1629	0	PLBD1	12	14720555	In_Frame_Del	DEL	GCA	TCGA-DX-AB2Z-01A-11D-A387-09	1905489	14720555	119131340	50	9447											
KIAA0528	9847	genome.wustl.edu	37	chr12	22610069	22610069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaaatttccatcacccaCtggacttgctttttcaactg	6	13	2	0	rs375588532		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr12:22610069C>T	ENST00000333957.4	-	23	2815	c.2560G>A	c.(2560-2562)Gtg>Atg	p.V854M	C2CD5_ENST00000545552.1_Missense_Mutation_p.V908M|C2CD5_ENST00000446597.1_Missense_Mutation_p.V905M|C2CD5_ENST00000544930.1_Missense_Mutation_p.V710M|C2CD5_ENST00000536386.1_Missense_Mutation_p.V907M|C2CD5_ENST00000542676.1_Missense_Mutation_p.V905M|C2CD5_ENST00000396028.2_Missense_Mutation_p.V896M	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	854					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CCATCACCCACTGGACTTGCT	0.408																																																	0								ENSG00000111731						97	89	92					12																	22610069		2203	4300	6503	C2CD5	SO:0001583	missense	0			-	HGNC	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2560G>A	12.37:g.22610069C>T	ENSP00000334229:p.Val854Met	Somatic	0	75	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.V854M	ENST00000333957.4	37	c.2560	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403433	0.11754	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T	0.64260	-0.07;-0.09;-0.09;-0.09;-0.09;-0.09	4.96	-8.53	0.00916	.	0.377447	0.28182	N	0.016298	T	0.26268	0.0641	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;B	0.11235	0.001;0.0;0.004;0.004;0.0	B;B;B;B;B	0.17098	0.003;0.002;0.017;0.009;0.001	T	0.16453	-1.0402	10	0.20519	T	0.43	-1.6006	3.7657	0.08622	0.122:0.4241:0.2551:0.1987	.	907;905;710;896;854	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	M	854;905;907;896;905;908;710	ENSP00000334229:V854M;ENSP00000388756:V905M;ENSP00000439392:V907M;ENSP00000379345:V896M;ENSP00000441951:V905M;ENSP00000443204:V908M	ENSP00000334229:V854M	V	-	1	0	KIAA0528	22501336	0.041000	0.20044	0.158000	0.22627	0.898000	0.52572	0.185000	0.16958	-1.291000	0.02368	-1.058000	0.02302	GTG	-	NULL		0.408	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	protein_coding	OTTHUMT00000402257.1	C	NM_014802	-		22610069	-1	no_errors	ENST00000333957	ensembl	human	known	74_37	missense	SNP	0.014	T	T	22610069	C	T	22610069	3	4	126	1	0	0	0	0	1	0	0	0	8184	565	20	2	454	2	KIAA0528	12	22610069	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	7889514	22610069	111241826	51	9448											
MED13L	23389	genome.wustl.edu	37	chr12	116413410	116413410	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagccagcgctggtcgtgaGacagacaatagcccacgaag	12	11	0	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr12:116413410G>C	ENST00000281928.3	-	24	5704	c.5498C>G	c.(5497-5499)tCt>tGt	p.S1833C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1833						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTGGTCGTGAGACAGACAATA	0.483																																																	0								ENSG00000123066						105	100	102					12																	116413410		2203	4300	6503	MED13L	SO:0001583	missense	0			-	HGNC	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5498C>G	12.37:g.116413410G>C	ENSP00000281928:p.Ser1833Cys	Somatic	0	64	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	40	14.89	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP							pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S1833C	ENST00000281928.3	37	c.5498	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817420	0.90790	.	.	ENSG00000123066	ENST00000281928	D	0.95482	-3.72	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98059	1.0392	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	1833	Q71F56	MD13L_HUMAN	C	1833	ENSP00000281928:S1833C	ENSP00000281928:S1833C	S	-	2	0	MED13L	114897793	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.420000	0.97426	2.937000	0.99478	0.650000	0.86243	TCT	-	pfam_Mediator_Med13		0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	protein_coding	OTTHUMT00000403879.3	G		-		116413410	-1	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	SNP	1.000	C	C	116413410	G	C	116413410	3	2	126	1	0	0	0	0	1	0	0	0	9433	942	33	4	1166	4	MED13L	12	116413410	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	93803341	116413410	17438485	52	9449											
OR4Q3	441669	genome.wustl.edu	37	chr14	20215944	20215944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttgctgacagtcatgGcctatgacaggtatgttgcc	11	8	1	2	rs146262204	byFrequency	TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr14:20215944G>A	ENST00000331723.1	+	1	358	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	120						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)		GACAGTCATGGCCTATGACAG	0.517																																																	0								ENSG00000182652						97	99	98					14																	20215944		2203	4299	6502	OR4Q3	SO:0001583	missense	0			-	HGNC	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.358G>A	14.37:g.20215944G>A	ENSP00000330049:p.Ala120Thr	Somatic	0	118	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	118	9.23	Q6IEX4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A120T	ENST00000331723.1	37	c.358	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050597	0.75960	.	.	ENSG00000182652	ENST00000331723	T	0.54071	0.59	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	U	0.001255	T	0.80497	0.4634	H	0.98133	4.155	0.40724	D	0.982689	D	0.89917	1.0	D	0.97110	1.0	D	0.85678	0.1299	10	0.87932	D	0	.	9.6164	0.39694	0.0:0.0:0.7913:0.2087	.	120	Q8NH05	OR4Q3_HUMAN	T	120	ENSP00000330049:A120T	ENSP00000330049:A120T	A	+	1	0	OR4Q3	19285784	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.121000	0.71602	2.257000	0.74773	0.406000	0.27484	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	protein_coding	OTTHUMT00000409818.2	G		-		20215944	1	no_errors	ENST00000331723	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20215944	G	A	20215944	3	1	126	1	0	0	0	0	1	0	0	0	11083	1203	42	2	360	2	OR4Q3	14	20215944	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		20215944	87133596	53	9450											
PABPN1	8106	genome.wustl.edu	37	chr14	23790681	23790683	+	Start_Codon_Del	DEL	GGC	GGC	-													gccccagtctgagcggcgatGgcggcggcggcggcggcggc							TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	GGC	GGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr14:23790681_23790683delGGC	ENST00000216727.4	+	0	184_186				PABPN1_ENST00000556821.1_5'Flank|PABPN1_ENST00000397276.2_Start_Codon_Del|BCL2L2-PABPN1_ENST00000553781.1_Intron|PABPN1_ENST00000557702.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1						gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GAgcggcgatggcggcggcggcg	0.778																																																	0								ENSG00000100836																																			PABPN1	SO:0001582	initiator_codon_variant	0				HGNC	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739		14.37:g.23790690_23790692delGGC		Somatic	0	36	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	D3DS49|O43484	In_Frame_Del	DEL							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A5in_frame_del	ENST00000216727.4	37	c.3_5	CCDS9592.1	14																																																																																			-	NULL		0.778	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	protein_coding	OTTHUMT00000071767.4	GGC	NM_004643			23790683	1	no_errors	ENST00000216727	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	23790683	GGC	-	23790681	7	5	126	1	0	1	0	1	0	0	0	0	11370	1348	47	0	5	0	PABPN1	14	23790681	Start_Codon_Del	DEL	GGC	TCGA-DX-AB2Z-01A-11D-A387-09	3574737	23790681	83558859	54	9451											
ADPGK	83440	genome.wustl.edu	37	chr15	73044752	73044752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catctccaaggcctacagttCgaatggggtctttacacacc	8	13	2	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr15:73044752C>A	ENST00000311669.8	-	7	1514	c.1421G>T	c.(1420-1422)cGa>cTa	p.R474L	ADPGK_ENST00000456471.2_Missense_Mutation_p.R200L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	475	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						GCCTACAGTTCGAATGGGGTC	0.443																																																	0								ENSG00000159322						73	72	72					15																	73044752		1900	4108	6008	ADPGK	SO:0001583	missense	0			-	HGNC	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.1421G>T	15.37:g.73044752C>A	ENSP00000312250:p.Arg474Leu	Somatic	0	50	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.29	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP							pfam_ADP_PFK/GK	p.R474L	ENST00000311669.8	37	c.1421	CCDS42057.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.625477	0.96671	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471	T;T	0.44482	0.92;0.92	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.60575	0.988;0.988;0.985;0.967	P;P;P;P	0.57679	0.825;0.825;0.807;0.643	T	0.48614	-0.9020	10	0.17832	T	0.49	-14.0779	20.139	0.98050	0.0:1.0:0.0:0.0	.	417;475;474;200	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	L	474;394;200	ENSP00000312250:R474L;ENSP00000397694:R200L	ENSP00000312250:R474L	R	-	2	0	ADPGK	70831805	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.695000	0.84257	2.764000	0.94973	0.655000	0.94253	CGA	-	pfam_ADP_PFK/GK		0.443	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK	protein_coding	OTTHUMT00000420434.1	C	NM_031284	-		73044752	-1	no_errors	ENST00000311669	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73044752	C	A	73044752	3	1	126	1	0	0	0	0	1	0	0	0	330	884	31	3	73	3	ADPGK	15	73044752	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09		73044752	29486640	55	9452											
CSPG4	1464	genome.wustl.edu	37	chr15	75982625	75982625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttctccaccacggcccGcaggtggccctcaaatatgt	9	17	2	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr15:75982625G>A	ENST00000308508.5	-	3	873	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	261	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCACGGCCCGCAGGTGGCCC	0.612																																																	0								ENSG00000173546						43	40	41					15																	75982625		2197	4293	6490	CSPG4	SO:0001583	missense	0			-	HGNC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.781C>T	15.37:g.75982625G>A	ENSP00000312506:p.Arg261Trp	Somatic	0	92	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	89	9.18	D3DW77|Q92675	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.R261W	ENST00000308508.5	37	c.781	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	18.10	3.548100	0.65311	.	.	ENSG00000173546	ENST00000308508	T	0.78924	-1.22	5.21	3.19	0.36642	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.105378	0.41396	D	0.000896	T	0.74068	0.3668	L	0.47716	1.5	0.44862	D	0.997873	P	0.52316	0.952	P	0.46208	0.507	T	0.76916	-0.2782	10	0.72032	D	0.01	.	12.142	0.54002	0.0:0.0:0.5628:0.4372	.	261	Q6UVK1	CSPG4_HUMAN	W	261	ENSP00000312506:R261W	ENSP00000312506:R261W	R	-	1	2	CSPG4	73769680	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.449000	0.35123	1.181000	0.42912	0.555000	0.69702	CGG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	protein_coding	OTTHUMT00000286472.1	G	NM_001897	-		75982625	-1	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75982625	G	A	75982625	3	1	126	1	0	0	0	0	1	0	0	0	3962	1086	38	1	6219	1	CSPG4	15	75982625	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	2937873	75982625	26548767	56	9453											
ZNF710	374655	genome.wustl.edu	37	chr15	90611108	90611108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccggaacagggcttcGtgtggcaggaggccagtgag	17	9	1	1	rs550826482		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr15:90611108G>T	ENST00000268154.4	+	2	990	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	247					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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACAGGGCTTCGTGTGGCAGGA	0.657																																																	0								ENSG00000140548						33	40	38					15																	90611108		2199	4288	6487	ZNF710	SO:0001583	missense	0			-	HGNC	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.739G>T	15.37:g.90611108G>T	ENSP00000268154:p.Val247Leu	Somatic	0	144	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	111	11.90	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V247L	ENST00000268154.4	37	c.739	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554707	0.27739	.	.	ENSG00000140548	ENST00000268154	T	0.08458	3.09	5.22	4.3	0.51218	.	1.710450	0.03420	N	0.206113	T	0.10723	0.0262	L	0.29908	0.895	0.36686	D	0.879295	B	0.06786	0.001	B	0.04013	0.001	T	0.12400	-1.0549	10	0.44086	T	0.13	-32.4007	13.9545	0.64140	0.0:0.0:0.8469:0.1531	.	247	Q8N1W2	ZN710_HUMAN	L	247	ENSP00000268154:V247L	ENSP00000268154:V247L	V	+	1	0	ZNF710	88412112	.	.	0.998000	0.56505	0.855000	0.48748	.	.	1.407000	0.46875	0.561000	0.74099	GTG	-	NULL		0.657	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	protein_coding	OTTHUMT00000313423.1	G	NM_198526	-		90611108	1	no_errors	ENST00000268154	ensembl	human	known	74_37	missense	SNP	0.972	T	T	90611108	G	T	90611108	3	4	126	1	0	0	0	0	1	0	0	0	18122	1145	40	3	741	3	ZNF710	15	90611108	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	14628483	90611108	11920284	57	9454											
UBE2I	7329	genome.wustl.edu	37	chr16	1364372	1364372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgccattccaggaaagAaaggggtaaggggcgctgcc	16	9	0	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr16:1364372A>G	ENST00000355803.4	+	3	696	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	UBE2I_ENST00000397515.2_Missense_Mutation_p.K49E|UBE2I_ENST00000566587.1_Missense_Mutation_p.K49E|UBE2I_ENST00000325437.5_Missense_Mutation_p.K49E|UBE2I_ENST00000397514.3_Missense_Mutation_p.K49E|UBE2I_ENST00000402301.1_Missense_Mutation_p.K49E|UBE2I_ENST00000403747.2_Missense_Mutation_p.K49E|UBE2I_ENST00000406620.1_Missense_Mutation_p.K49E	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	49					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				TCCAGGAAAGAAAGGGGTAAG	0.582																																																	0								ENSG00000103275						63	62	62					16																	1364372		2199	4300	6499	UBE2I	SO:0001583	missense	0			-	HGNC	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.145A>G	16.37:g.1364372A>G	ENSP00000348056:p.Lys49Glu	Somatic	0	71	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K49E	ENST00000355803.4	37	c.145	CCDS10433.1	16	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767138	0.31320	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.0	2.66	0.31614	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	N	0.20766	0.605	0.80722	D	1	P;B	0.36330	0.548;0.042	B;B	0.36030	0.216;0.096	T	0.05273	-1.0895	10	0.10377	T	0.69	.	5.7749	0.18273	0.7649:0.0:0.0867:0.1485	.	49;49	B0QYN7;P63279	.;UBC9_HUMAN	E	49	ENSP00000324897:K49E;ENSP00000348056:K49E;ENSP00000380649:K49E;ENSP00000380650:K49E;ENSP00000384568:K49E;ENSP00000385009:K49E;ENSP00000384361:K49E	ENSP00000324897:K49E	K	+	1	0	UBE2I	1304373	1.000000	0.71417	0.985000	0.45067	0.736000	0.42039	7.383000	0.79741	0.725000	0.32318	-0.336000	0.08194	AAA	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.582	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	protein_coding	OTTHUMT00000250317.2	A	NM_003345	-		1364372	1	no_errors	ENST00000325437	ensembl	human	known	74_37	missense	SNP	1.000	G	G	1364372	A	G	1364372	3	3	126	1	0	0	0	0	1	0	0	0	16866	247	9	5	151	5	UBE2I	16	1364372	Missense_Mutation	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09		1364372	88990381	58	9455											
KIF22	3835	genome.wustl.edu	37	chr16	29815365	29815365	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgagatccacatcctgaaGaataaaggccggaagagaaa	11	9	0	4	rs372310662		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr16:29815365G>A	ENST00000160827.4	+	11	1696	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K	KIF22_ENST00000400750.2_Silent_p.K57K|KIF22_ENST00000569382.2_Silent_p.K484K|MAZ_ENST00000322945.6_5'Flank|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000219782.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|KIF22_ENST00000400751.5_Silent_p.K484K|MAZ_ENST00000566906.2_5'Flank|KIF22_ENST00000561482.1_Silent_p.K484K|MAZ_ENST00000562337.1_5'Flank|AC009133.15_ENST00000566537.1_RNA	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	552					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						ACATCCTGAAGAATAAAGGCC	0.542																																																	0								ENSG00000079616						71	71	71					16																	29815365		2197	4296	6493	KIF22	SO:0001819	synonymous_variant	0			-	HGNC	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1656G>A	16.37:g.29815365G>A		Somatic	0	24	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K552	ENST00000160827.4	37	c.1656	CCDS10653.1	16																																																																																			-	NULL		0.542	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	protein_coding	OTTHUMT00000215012.2	G		-		29815365	1	no_errors	ENST00000160827	ensembl	human	known	74_37	silent	SNP	1.000	A	A	29815365	G	A	29815365	2	1	126	1	0	0	0	0	0	0	0	1	8292	933	33	2		2	KIF22	16	29815365	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	28450993	29815365	60539388	59	9456			1	73		3	3	1093	G		4.695239e-06
KIF22	3835	genome.wustl.edu	37	chr16	29816167	29816167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatgccctagagcctgaggaGaaggctgaggactgctggga	17	8	0	4			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr16:29816167G>C	ENST00000160827.4	+	12	1750	c.1710G>C	c.(1708-1710)gaG>gaC	p.E570D	KIF22_ENST00000569382.2_Missense_Mutation_p.E516D|MAZ_ENST00000322945.6_5'Flank|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000219782.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|KIF22_ENST00000400751.5_Missense_Mutation_p.E502D|MAZ_ENST00000566906.2_5'Flank|KIF22_ENST00000561482.1_Missense_Mutation_p.E502D|MAZ_ENST00000562337.1_5'Flank|AC009133.15_ENST00000566537.1_RNA	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	570					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGCCTGAGGAGAAGGCTGAGG	0.587																																																	0								ENSG00000079616						28	26	27					16																	29816167		2197	4296	6493	KIF22	SO:0001583	missense	0			-	HGNC	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1710G>C	16.37:g.29816167G>C	ENSP00000160827:p.Glu570Asp	Somatic	0	56	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E570D	ENST00000160827.4	37	c.1710	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215768	0.39102	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73789	-0.7;-0.78	5.64	0.155	0.14906	.	.	.	.	.	T	0.55609	0.1931	N	0.24115	0.695	0.22354	N	0.999178	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40040	-0.9584	9	0.36615	T	0.2	.	5.4852	0.16745	0.2272:0.279:0.4937:0.0	.	502;570	B7Z265;Q14807	.;KIF22_HUMAN	D	570;502	ENSP00000160827:E570D;ENSP00000383562:E502D	ENSP00000160827:E570D	E	+	3	2	KIF22	29723668	0.999000	0.42202	0.069000	0.20011	0.788000	0.44548	0.346000	0.19997	0.083000	0.17047	0.561000	0.74099	GAG	-	NULL		0.587	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	protein_coding	OTTHUMT00000215012.2	G		-		29816167	1	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	SNP	0.047	C	C	29816167	G	C	29816167	3	2	126	1	0	0	0	0	1	0	0	0	8292	933	33	4	1756	4	KIF22	16	29816167	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	802	29816167	60538586	60	9457			1	73		3	3	1093	G		4.695239e-06
KIF22	3835	genome.wustl.edu	37	chr16	29816457	29816457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggacctggaacgcgtgGagggcataacggggaaacag	18	7	0	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr16:29816457G>A	ENST00000160827.4	+	13	1952	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	KIF22_ENST00000569382.2_Missense_Mutation_p.E584K|MAZ_ENST00000322945.6_5'Flank|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000219782.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|MAZ_ENST00000568544.1_5'Flank|KIF22_ENST00000400751.5_Missense_Mutation_p.E570K|MAZ_ENST00000566906.2_5'Flank|KIF22_ENST00000561482.1_Missense_Mutation_p.E570K|MAZ_ENST00000562337.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000569978.1_5'Flank	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	638					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGAACGCGTGGAGGGCATAAC	0.682																																																	0								ENSG00000079616						73	63	66					16																	29816457		2197	4296	6493	KIF22	SO:0001583	missense	0			-	HGNC	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1912G>A	16.37:g.29816457G>A	ENSP00000160827:p.Glu638Lys	Somatic	0	50	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	46	11.54	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E638K	ENST00000160827.4	37	c.1912	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939806	0.52972	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73152	-0.63;-0.72	4.86	3.83	0.44106	Helix-hairpin-helix DNA-binding motif, class 1 (1);	.	.	.	.	T	0.47838	0.1467	N	0.04335	-0.225	0.80722	D	1	B;B	0.15473	0.013;0.011	B;B	0.20184	0.028;0.015	T	0.38628	-0.9652	9	0.41790	T	0.15	.	10.1201	0.42616	0.1114:0.0:0.8886:0.0	.	570;638	B7Z265;Q14807	.;KIF22_HUMAN	K	638;570	ENSP00000160827:E638K;ENSP00000383562:E570K	ENSP00000160827:E638K	E	+	1	0	KIF22	29723958	1.000000	0.71417	0.871000	0.34182	0.570000	0.35934	3.903000	0.56318	1.041000	0.40125	0.561000	0.74099	GAG	-	superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif		0.682	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	protein_coding	OTTHUMT00000215012.2	G		-		29816457	1	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29816457	G	A	29816457	3	1	126	1	0	0	0	0	1	0	0	0	8292	1175	41	2	1962	2	KIF22	16	29816457	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	290	29816457	60538296	61	9458			1	73		3	3	1093	G		4.695239e-06
UNC45B	146862	genome.wustl.edu	37	chr17	33477089	33477089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacatcaactcctcggaCatcaaggctctgtatcggcg	9	13	3	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr17:33477089C>T	ENST00000268876.5	+	4	325	c.228C>T	c.(226-228)gaC>gaT	p.D76D	UNC45B_ENST00000433649.1_Silent_p.D76D|UNC45B_ENST00000591048.1_Silent_p.D76D|UNC45B_ENST00000378449.1_Silent_p.D76D|UNC45B_ENST00000394570.2_Silent_p.D76D	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	76					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)				ACTCCTCGGACATCAAGGCTC	0.617																																																	0								ENSG00000141161						94	74	81					17																	33477089		2203	4300	6503	UNC45B	SO:0001819	synonymous_variant	0			-	HGNC	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.228C>T	17.37:g.33477089C>T		Somatic	0	112	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	64	22.89	Q495Q8|Q495Q9	Silent	SNP							pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D76	ENST00000268876.5	37	c.228	CCDS11292.1	17																																																																																			-	superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR-contain_dom		0.617	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	protein_coding	OTTHUMT00000256458.2	C	NM_173167	-		33477089	1	no_errors	ENST00000268876	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33477089	C	T	33477089	2	4	126	1	0	0	0	0	0	0	0	1	16996	477	17	2		2	UNC45B	17	33477089	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09		33477089	47718121	62	9459											
KRT15	3866	genome.wustl.edu	37	chr17	39671736	39671736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctacttggcatcctggCcctcgagcaggctgcggtaa	13	14	0	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr17:39671736C>A	ENST00000254043.3	-	6	4820	c.1235G>T	c.(1234-1236)gGc>gTc	p.G412V	KRT15_ENST00000393976.2_Missense_Mutation_p.G412V|KRT15_ENST00000393974.3_Missense_Mutation_p.G247V|KRT15_ENST00000393981.3_Missense_Mutation_p.G247V	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	412	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGCATCCTGGCCCTCGAGCAG	0.592																																																	0								ENSG00000171346						94	81	86					17																	39671736		2203	4300	6503	KRT15	SO:0001583	missense	0			-	HGNC		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1235G>T	17.37:g.39671736C>A	ENSP00000254043:p.Gly412Val	Somatic	0	40	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G412V	ENST00000254043.3	37	c.1235	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182638	0.78677	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	4.71	4.71	0.59529	Filament (1);	0.000000	0.50627	D	0.000118	D	0.98960	0.9646	M	0.90870	3.155	0.80722	D	1	P;D;D	0.59357	0.833;0.96;0.985	P;P;D	0.64595	0.6;0.887;0.927	D	0.99184	1.0868	10	0.72032	D	0.01	.	13.3146	0.60399	0.0:0.9216:0.0:0.0784	.	247;412;412	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	V	412;247;412;247	ENSP00000254043:G412V;ENSP00000377544:G247V;ENSP00000377546:G412V;ENSP00000377550:G247V	ENSP00000254043:G412V	G	-	2	0	KRT15	36925262	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.671000	0.54576	2.426000	0.82243	0.655000	0.94253	GGC	-	pfam_IF		0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	protein_coding	OTTHUMT00000257301.1	C	NM_002275	-		39671736	-1	no_errors	ENST00000254043	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39671736	C	A	39671736	3	1	126	1	0	0	0	0	1	0	0	0	8454	739	26	3	147	3	KRT15	17	39671736	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	6194647	39671736	41523474	63	9460											
TTLL6	284076	genome.wustl.edu	37	chr17	46876980	46876980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtacctttgaaatatacaGctgacagatcatatcctccc	5	11	1	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr17:46876980G>A	ENST00000393382.3	-	6	895	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GAAATATACAGCTGACAGATC	0.443																																																	0								ENSG00000170703						157	130	138					17																	46876980		692	1591	2283	TTLL6	SO:0001819	synonymous_variant	0			-	HGNC	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.754C>T	17.37:g.46876980G>A		Somatic	0	91	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	67	28.72		Silent	SNP							pfam_TTL/TTLL_fam	p.L252	ENST00000393382.3	37	c.754	CCDS45724.1	17																																																																																			-	pfam_TTL/TTLL_fam		0.443	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	protein_coding	OTTHUMT00000346939.3	G	NM_173623	-		46876980	-1	no_errors	ENST00000393382	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46876980	G	A	46876980	2	1	126	1	0	0	0	0	0	0	0	1	16738	962	34	2		2	TTLL6	17	46876980	Silent	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	7205244	46876980	34318230	64	9461											
STXBP4	252983	genome.wustl.edu	37	chr17	53237201	53237201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccatcccgtgatgagtGtcctgaatctatctcgctca	9	12	3	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr17:53237201G>A	ENST00000376352.2	+	18	1798	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	STXBP4_ENST00000434978.2_Missense_Mutation_p.V509I	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	531					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CGTGATGAGTGTCCTGAATCT	0.433																																																	0								ENSG00000166263						129	104	113					17																	53237201		2203	4300	6503	STXBP4	SO:0001583	missense	0			-	HGNC	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1591G>A	17.37:g.53237201G>A	ENSP00000365530:p.Val531Ile	Somatic	0	35	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	40.68	Q8IVZ5	Missense_Mutation	SNP							pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom	p.V531I	ENST00000376352.2	37	c.1591	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232561	0.39498	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.03607	3.87;3.87	5.22	3.25	0.37280	.	0.308667	0.27189	N	0.020518	T	0.02380	0.0073	N	0.11341	0.13	0.51767	D	0.999932	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.51694	-0.8673	10	0.49607	T	0.09	-0.8259	8.8855	0.35400	0.172:0.0:0.828:0.0	.	509;531	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	I	531;509	ENSP00000365530:V531I;ENSP00000391087:V509I	ENSP00000365530:V531I	V	+	1	0	STXBP4	50592200	0.859000	0.29813	0.595000	0.28798	0.994000	0.84299	2.142000	0.42177	0.794000	0.33899	0.563000	0.77884	GTC	-	NULL		0.433	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	protein_coding	OTTHUMT00000157184.1	G	NM_178509	-		53237201	1	no_errors	ENST00000376352	ensembl	human	known	74_37	missense	SNP	0.757	A	A	53237201	G	A	53237201	3	1	126	1	0	0	0	0	1	0	0	0	15362	1377	48	2	1653	2	STXBP4	17	53237201	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	6360221	53237201	27958009	65	9462											
MGAT5B	146664	genome.wustl.edu	37	chr17	74936909	74936909	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggagtttgaagcagccatCaaggccattatgagaactca	11	8	2	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr17:74936909C>A	ENST00000569840.2	+	15	2401	c.1827C>A	c.(1825-1827)atC>atA	p.I609I	MGAT5B_ENST00000428789.2_Silent_p.I618I|MGAT5B_ENST00000301618.4_Silent_p.I607I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	609					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						AAGCAGCCATCAAGGCCATTA	0.542																																																	0								ENSG00000167889						72	67	69					17																	74936909		2203	4300	6503	MGAT5B	SO:0001819	synonymous_variant	0			-	HGNC	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.1827C>A	17.37:g.74936909C>A		Somatic	0	19	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP							superfamily_PyrdxlP-dep_Trfase	p.I618	ENST00000569840.2	37	c.1854	CCDS59299.1	17																																																																																			-	NULL		0.542	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	protein_coding	OTTHUMT00000460624.2	C	NM_144677	-		74936909	1	no_errors	ENST00000428789	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74936909	C	A	74936909	2	1	126	1	0	0	0	0	0	0	0	1	9551	816	29	3		3	MGAT5B	17	74936909	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	21699708	74936909	6258301	66	9463											
CLUL1	27098	genome.wustl.edu	37	chr18	627423	627423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatgttgggacattcccaaCttcttccagctgttttgtaa	7	10	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr18:627423C>A	ENST00000400606.2	+	5	895	c.750C>A	c.(748-750)aaC>aaA	p.N250K	CLUL1_ENST00000540035.1_Missense_Mutation_p.N302K|CLUL1_ENST00000581619.1_Missense_Mutation_p.N275K|CLUL1_ENST00000579494.1_Missense_Mutation_p.N250K|CLUL1_ENST00000338387.7_Missense_Mutation_p.N250K	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	250					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATTCCCAACTTCTTCCAGC	0.373																																																	0								ENSG00000079101						105	96	99					18																	627423		1829	4094	5923	CLUL1	SO:0001583	missense	0			-	HGNC	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.750C>A	18.37:g.627423C>A	ENSP00000383449:p.Asn250Lys	Somatic	0	41	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	A0FDN7	Missense_Mutation	SNP							pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.N250K	ENST00000400606.2	37	c.750	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	C	5.649	0.304468	0.10678	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22743	1.94;1.94;1.94	5.86	-0.824	0.10812	Clusterin, C-terminal (1);	0.401814	0.30446	N	0.009609	T	0.13798	0.0334	L	0.34521	1.04	0.09310	N	1	B;B	0.32653	0.328;0.379	B;B	0.37091	0.079;0.241	T	0.24584	-1.0156	10	0.25751	T	0.34	-4.0513	7.3556	0.26717	0.1068:0.4904:0.0:0.4028	.	302;250	F5GWQ8;Q15846	.;CLUL1_HUMAN	K	250;302;250	ENSP00000383449:N250K;ENSP00000441726:N302K;ENSP00000341128:N250K	ENSP00000341128:N250K	N	+	3	2	CLUL1	617423	0.014000	0.17966	0.088000	0.20740	0.793000	0.44817	-0.005000	0.12855	-0.054000	0.13266	0.561000	0.74099	AAC	-	pfam_Clusterin-like,smart_Clusterin_C		0.373	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	protein_coding	OTTHUMT00000441183.1	C		-		627423	1	no_errors	ENST00000338387	ensembl	human	known	74_37	missense	SNP	0.026	A	A	627423	C	A	627423	3	1	126	1	0	0	0	0	1	0	0	0	3572	564	20	3	764	3	CLUL1	18	627423	Missense_Mutation	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09		627423	77449825	67	9464											
LAMA3	3909	genome.wustl.edu	37	chr18	21427505	21427505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccgcacggtcaggccccagTgtgaggtgtgtgagacacac	14	13	1	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr18:21427505T>A	ENST00000313654.9	+	32	4250	c.4009T>A	c.(4009-4011)Tgt>Agt	p.C1337S	LAMA3_ENST00000399516.3_Missense_Mutation_p.C1337S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1337	Domain III B.|Laminin EGF-like 10. {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)					CAGGCCCCAGTGTGAGGTGTG	0.632																																																	0								ENSG00000053747						36	40	39					18																	21427505		2073	4193	6266	LAMA3	SO:0001583	missense	0			-	HGNC	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.4009T>A	18.37:g.21427505T>A	ENSP00000324532:p.Cys1337Ser	Somatic	0	64	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	90	13.46	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.C1337S	ENST00000313654.9	37	c.4009	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525916	0.85600	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	D;D	0.90900	-2.75;-2.75	5.54	5.54	0.83059	EGF-like, laminin (2);	.	.	.	.	D	0.96787	0.8951	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.97987	1.0352	9	0.87932	D	0	.	15.691	0.77453	0.0:0.0:0.0:1.0	.	1337;1337	Q6VU67;Q16787	.;LAMA3_HUMAN	S	1337;1337;1335	ENSP00000324532:C1337S;ENSP00000382432:C1337S	ENSP00000324532:C1337S	C	+	1	0	LAMA3	19681503	1.000000	0.71417	0.994000	0.49952	0.593000	0.36681	7.665000	0.83852	2.118000	0.64928	0.459000	0.35465	TGT	-	smart_EGF_laminin		0.632	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	T	NM_000227, NM_198129	-		21427505	1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21427505	T	A	21427505	3	1	126	1	0	0	0	0	1	0	0	0	8609	1696	59	5	4135	5	LAMA3	18	21427505	Missense_Mutation	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09	20800082	21427505	56649743	68	9465											
ATP8B1	5205	genome.wustl.edu	37	chr18	55351329	55351329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagaactgtcgtacTtctggctctttccctgactg	9	10	2	4			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr18:55351329T>G	ENST00000283684.4	-	14	1568	c.1569A>C	c.(1567-1569)gaA>gaC	p.E523D	ATP8B1_ENST00000536015.1_Missense_Mutation_p.E523D|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	523					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ACTGTCGTACTTCTGGCTCTT	0.448																																																	0								ENSG00000081923						155	129	138					18																	55351329		2203	4300	6503	ATP8B1	SO:0001583	missense	0			-	HGNC	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1569A>C	18.37:g.55351329T>G	ENSP00000283684:p.Glu523Asp	Somatic	0	37	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	Q9BTP8	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E523D	ENST00000283684.4	37	c.1569	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	T	2.785	-0.252547	0.05829	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.62639	0.01;0.01	5.81	2.1	0.27182	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.101933	0.64402	D	0.000002	T	0.35008	0.0917	N	0.12182	0.205	0.29605	N	0.847356	B	0.13145	0.007	B	0.16289	0.015	T	0.18903	-1.0322	10	0.12430	T	0.62	.	5.5902	0.17297	0.0:0.1437:0.2714:0.5849	.	523	O43520	AT8B1_HUMAN	D	523	ENSP00000283684:E523D;ENSP00000445359:E523D	ENSP00000283684:E523D	E	-	3	2	ATP8B1	53502327	0.272000	0.24172	0.275000	0.24674	0.027000	0.11550	0.273000	0.18662	0.127000	0.18452	0.379000	0.24179	GAA	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.448	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	protein_coding	OTTHUMT00000256097.1	T	NM_005603	-		55351329	-1	no_errors	ENST00000283684	ensembl	human	known	74_37	missense	SNP	0.979	G	G	55351329	T	G	55351329	3	3	126	1	0	0	0	0	1	0	0	0	1194	1606	56	5	2242	5	ATP8B1	18	55351329	Missense_Mutation	SNP	T	TCGA-DX-AB2Z-01A-11D-A387-09	33923824	55351329	22725919	69	9466											
CDH7	1005	genome.wustl.edu	37	chr18	63430124	63430124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccattttctgcagctaataGctcttttcctgtgtttttct	6	10	3	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr18:63430124G>T	ENST00000397968.2	+	2	472	c.46G>T	c.(46-48)Gct>Tct	p.A16S	CDH7_ENST00000323011.3_Missense_Mutation_p.A16S|CDH7_ENST00000536984.2_Missense_Mutation_p.A16S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	16					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCAGCTAATAGCTCTTTTCCT	0.428																																																	0								ENSG00000081138						117	114	115					18																	63430124		2203	4300	6503	CDH7	SO:0001583	missense	0			-	HGNC	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.46G>T	18.37:g.63430124G>T	ENSP00000381058:p.Ala16Ser	Somatic	0	47	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q9H157	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A16S	ENST00000397968.2	37	c.46	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141363	0.37825	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.55052	0.54;0.57;0.54	5.83	4.95	0.65309	.	0.175990	0.40064	N	0.001197	T	0.42607	0.1210	L	0.40543	1.245	0.35519	D	0.80127	B;B	0.29037	0.2;0.231	B;B	0.22601	0.03;0.04	T	0.48433	-0.9036	10	0.15499	T	0.54	.	16.3201	0.82949	0.0:0.0:0.8667:0.1333	.	16;16	F5H5X9;Q9ULB5	.;CADH7_HUMAN	S	16	ENSP00000319166:A16S;ENSP00000443030:A16S;ENSP00000381058:A16S	ENSP00000319166:A16S	A	+	1	0	CDH7	61581104	0.874000	0.30092	0.467000	0.27180	0.907000	0.53573	1.792000	0.38754	1.455000	0.47813	0.650000	0.86243	GCT	-	NULL		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	protein_coding	OTTHUMT00000256217.2	G	NM_033646	-		63430124	1	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	SNP	0.994	T	T	63430124	G	T	63430124	3	4	126	1	0	0	0	0	1	0	0	0	3117	971	34	3	48	3	CDH7	18	63430124	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	8078795	63430124	14647124	70	9467											
SALL3	27164	genome.wustl.edu	37	chr18	76754525	76754525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcattgccgccctggagaAccagatgaagatgatcgact	11	11	0	5			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr18:76754525A>G	ENST00000537592.2	+	2	2534	c.2534A>G	c.(2533-2535)aAc>aGc	p.N845S	SALL3_ENST00000575389.2_Missense_Mutation_p.N845S|SALL3_ENST00000536229.3_Missense_Mutation_p.N712S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	845					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCTGGAGAACCAGATGAAG	0.667																																																	0								ENSG00000256463						41	44	43					18																	76754525		2202	4298	6500	SALL3	SO:0001583	missense	0			-	HGNC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2534A>G	18.37:g.76754525A>G	ENSP00000441823:p.Asn845Ser	Somatic	0	41	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	Q9UGH1	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N845S	ENST00000537592.2	37	c.2534	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625219	0.28889	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11277	2.79	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000009	T	0.13200	0.0320	M	0.73217	2.22	0.54753	D	0.999983	B;P	0.42692	0.34;0.787	B;B	0.33846	0.171;0.158	T	0.08700	-1.0709	10	0.28530	T	0.3	-51.3036	15.2626	0.73637	1.0:0.0:0.0:0.0	.	577;845	F5GXY4;Q9BXA9	.;SALL3_HUMAN	S	845;845;577	ENSP00000441823:N845S	ENSP00000299466:N845S	N	+	2	0	SALL3	74855513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.034000	0.70933	2.006000	0.58801	0.459000	0.35465	AAC	-	NULL		0.667	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	A	NM_171999	-		76754525	1	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76754525	A	G	76754525	3	3	126	1	0	0	0	0	1	0	0	0	13820	43	2	5	2540	5	SALL3	18	76754525	Missense_Mutation	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09	13324401	76754525	1322723	71	9468											
HMHA1	23526	genome.wustl.edu	37	chr19	1080092	1080092	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccgatgtgcactacgactttGagccccacgtctccgccaac	8	17	1	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:1080092G>C	ENST00000313093.2	+	13	1909	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	HMHA1_ENST00000590214.1_Missense_Mutation_p.E587Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.E564Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.E195Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.E443Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.E400Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.E576Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	560					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CTACGACTTTGAGCCCCACGT	0.687																																																	0								ENSG00000180448						45	45	45					19																	1080092		2203	4300	6503	HMHA1	SO:0001583	missense	0			-	HGNC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1678G>C	19.37:g.1080092G>C	ENSP00000316772:p.Glu560Gln	Somatic	0	90	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	109	17.42	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.E560Q	ENST00000313093.2	37	c.1678	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327753	0.24080	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	3.97	3.97	0.46021	.	0.060805	0.64402	U	0.000005	T	0.38665	0.1049	L	0.27975	0.815	0.36815	D	0.886083	P;P;B;P;P	0.45715	0.831;0.865;0.382;0.639;0.647	B;B;B;B;B	0.42555	0.284;0.391;0.091;0.155;0.131	T	0.42032	-0.9475	10	0.33141	T	0.24	-17.9403	9.7646	0.40552	0.0:0.2118:0.7882:0.0	.	400;576;195;443;560	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Q	576;560;560;400;554;443	ENSP00000439601:E576Q;ENSP00000316772:E560Q;ENSP00000445109:E400Q;ENSP00000438979:E443Q	ENSP00000316772:E560Q	E	+	1	0	HMHA1	1031092	1.000000	0.71417	0.788000	0.31933	0.065000	0.16274	6.761000	0.74945	1.783000	0.52377	0.561000	0.74099	GAG	-	NULL		0.687	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	protein_coding	OTTHUMT00000458026.1	G		-		1080092	1	no_errors	ENST00000313093	ensembl	human	known	74_37	missense	SNP	0.987	C	C	1080092	G	C	1080092	3	2	126	1	0	0	0	0	1	0	0	0	7242	1291	45	4	1728	4	HMHA1	19	1080092	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		1080092	58048891	72	9469											
EMR1	2015	genome.wustl.edu	37	chr19	6896476	6896476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatacagtggacagttaCtattgcgcttgcaaacaagg	9	9	0	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:6896476C>T	ENST00000312053.4	+	3	199	c.162C>T	c.(160-162)taC>taT	p.Y54Y	EMR1_ENST00000450315.3_Silent_p.Y54Y|EMR1_ENST00000381407.5_Silent_p.Y54Y|EMR1_ENST00000250572.8_Silent_p.Y54Y|EMR1_ENST00000381404.4_Silent_p.Y54Y|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	54	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGACAGTTACTATTGCGCTT	0.458																																																	0								ENSG00000174837						185	152	163					19																	6896476		2203	4300	6503	EMR1	SO:0001819	synonymous_variant	0			-	HGNC	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.162C>T	19.37:g.6896476C>T		Somatic	0	86	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.Y54	ENST00000312053.4	37	c.162	CCDS12175.1	19																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	C		-		6896476	1	no_errors	ENST00000312053	ensembl	human	known	74_37	silent	SNP	0.095	T	T	6896476	C	T	6896476	2	4	126	1	0	0	0	0	0	0	0	1	5106	576	20	2		2	EMR1	19	6896476	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	5816384	6896476	52232507	73	9470											
JUNB	3726	genome.wustl.edu	37	chr19	12902946	12902954	+	In_Frame_Del	DEL	GCAGGGGGC	GCAGGGGGC	-													ggggtggcagcggtggaggtGcagggggcgcagggggcggc					rs555879172	byFrequency	TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	GCAGGGGGC	GCAGGGGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:12902946_12902954delGCAGGGGGC	ENST00000302754.4	+	1	637_645	c.361_369delGCAGGGGGC	c.(361-369)gcagggggcdel	p.AGG124del		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	124				A -> G (in Ref. 5; AAH09465). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGGTGGAGGTGCAGGGGGCGCAGGGGGCG	0.66														4	0.000798722	8e-04	0.0043	5008	,	,		13258	0		0	False		,,,				2504	0																0								ENSG00000171223			11,3913		4,3,1955						-1.2	1			8	17,7719		7,3,3858	no	coding	JUNB	NM_002229.2		11,6,5813	A1A1,A1R,RR		0.2198,0.2803,0.2401				28,11632				JUNB	SO:0001651	inframe_deletion	0				HGNC	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.361_369delGCAGGGGGC	19.37:g.12902955_12902963delGCAGGGGGC	ENSP00000303315:p.Ala124_Gly126del	Somatic					0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96GH3	In_Frame_Del	DEL							pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.AGG124in_frame_del	ENST00000302754.4	37	c.361_369	CCDS12280.1	19																																																																																			-	pfam_JNK		0.66	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	protein_coding	OTTHUMT00000451015.1	GCAGGGGGC	NM_002229			12902954	1	no_errors	ENST00000302754	ensembl	human	known	74_37	in_frame_del	DEL	0.966:0.969:0.937:0.987:0.990:0.985:0.851:0.799:0.762	-	-	12902954	GCAGGGGGC	-	12902946	7	5	126	1	0	1	0	1	0	0	0	0	7972	1319	46	0	363	0	JUNB	19	12902946	In_Frame_Del	DEL	GCAGGGGGC	TCGA-DX-AB2Z-01A-11D-A387-09	6006470	12902946	46226037	74	9471											
RYR1	6261	genome.wustl.edu	37	chr19	39077992	39077992	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctggaagatgtaccaaGagagatgttgggatttcttc	12	5	2	3			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:39077992G>T	ENST00000359596.3	+	106	15049	c.15049G>T	c.(15049-15051)Gag>Tag	p.E5017*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.E5012*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.E5012*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	5017					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)	GATGTACCAAGAGAGATGTTG	0.453																																																	0								ENSG00000196218						108	95	100					19																	39077992		2203	4300	6503	RYR1	SO:0001587	stop_gained	0			-	HGNC	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.15049G>T	19.37:g.39077992G>T	ENSP00000352608:p.Glu5017*	Somatic	0	48	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	48	15.79	Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E5017*	ENST00000359596.3	37	c.15049	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	56	26.241876	0.99968	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.52	5.52	0.82312	.	0.155058	0.40064	U	0.001188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.0913	0.93228	0.0:0.0:1.0:0.0	.	.	.	.	X	5017;5012;5012	.	ENSP00000347667:E5012X	E	+	1	0	RYR1	43769832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.617000	0.88574	0.650000	0.86243	GAG	-	NULL		0.453	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		39077992	1	no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	39077992	G	T	39077992	4	4	126	1	0	0	0	0	0	1	0	0	13776	943	33	3	15471	3	RYR1	19	39077992	Nonsense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	26175046	39077992	20050991	75	9472											
SELV	348303	genome.wustl.edu	37	chr19	40009544	40009544	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccatttcctcccaggAggaggacagagctgcccagg	12	14	1	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:40009544A>G	ENST00000335426.4	+	4	990	c.890A>G	c.(889-891)gAg>gGg	p.E297G	SELV_ENST00000423711.1_Splice_Site_p.E297G	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		297					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)	p.E297V(1)		breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCCCAGGAGGAGGACAGA	0.602																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000186838						112	113	112					19																	40009544		1941	4141	6082	SELV	SO:0001630	splice_region_variant	0			-	Uniprot_gn																												ENST00000335426.4:c.889-1A>G	19.37:g.40009544A>G		Somatic	0	37	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q17RG5	Missense_Mutation	SNP							pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.E297G	ENST00000335426.4	37	c.890	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389196	0.61956	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.52057	0.68;0.68	3.88	1.47	0.22746	Thioredoxin-like fold (2);	.	.	.	.	T	0.52725	0.1752	L	0.43152	1.355	0.30368	N	0.783169	D	0.89917	1.0	D	0.75020	0.985	T	0.48917	-0.8992	9	0.29301	T	0.29	-6.7491	6.0082	0.19559	0.5763:0.0:0.0:0.4237	.	297	P59797	SELV_HUMAN	G	297	ENSP00000333956:E297G;ENSP00000412508:E297G	ENSP00000333956:E297G	E	+	2	0	AC011500.1	44701384	1.000000	0.71417	0.994000	0.49952	0.788000	0.44548	1.244000	0.32778	0.617000	0.30160	0.392000	0.25879	GAG	-	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ		0.602	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	protein_coding	OTTHUMT00000389802.1	A		-	Missense_Mutation	40009544	1	no_errors	ENST00000423711	ensembl	human	known	74_37	missense	SNP	0.985	G	G	40009544	A	G	40009544	5	3	126	1	0	0	0	0	0	0	1	0	14031	318	11	5	904	5	SELV	19	40009544	Splice_Site	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09	931552	40009544	19119439	76	9473											
ZNF225	7768	genome.wustl.edu	37	chr19	44635365	44635365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcagagagttcacatgGgggagaaactctataattgt	10	6	4	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:44635365G>T	ENST00000262894.6	+	5	878	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.G200W	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	200					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTTCACATGGGGGAGAAACT	0.398																																																	0								ENSG00000256294						71	77	75					19																	44635365		2182	4298	6480	ZNF225	SO:0001583	missense	0			-	HGNC	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.598G>T	19.37:g.44635365G>T	ENSP00000262894:p.Gly200Trp	Somatic	0	54	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G200W	ENST00000262894.6	37	c.598	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432745	0.62844	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.26810	1.71	2.97	1.92	0.25849	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59445	0.2194	H	0.95745	3.715	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50136	-0.8863	9	0.87932	D	0	.	9.0178	0.36182	0.1175:0.0:0.8825:0.0	.	200	Q9UK10	ZN225_HUMAN	W	200;164	ENSP00000262894:G200W	ENSP00000262894:G200W	G	+	1	0	ZNF225	49327205	0.887000	0.30362	0.004000	0.12327	0.880000	0.50808	3.420000	0.52735	0.562000	0.29204	0.561000	0.74099	GGG	-	pfscan_Znf_C2H2		0.398	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	protein_coding	OTTHUMT00000460581.1	G		-		44635365	1	no_errors	ENST00000262894	ensembl	human	known	74_37	missense	SNP	0.091	T	T	44635365	G	T	44635365	3	4	126	1	0	0	0	0	1	0	0	0	17786	1232	43	3	612	3	ZNF225	19	44635365	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	4625821	44635365	14493618	77	9474											
SPHK2	56848	genome.wustl.edu	37	chr19	49132505	49132505	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggctctcccaaggcAgctctacactcacccgtctc	6	20	4	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:49132505A>G	ENST00000245222.4	+	7	1806	c.1440A>G	c.(1438-1440)gcA>gcG	p.A480A	SPHK2_ENST00000443164.1_Silent_p.A542A|SPHK2_ENST00000340932.3_Silent_p.A442A|SPHK2_ENST00000600537.1_Silent_p.A421A|SPHK2_ENST00000598088.1_Silent_p.A480A|SPHK2_ENST00000599029.1_Silent_p.A444A|SPHK2_ENST00000599748.1_Silent_p.A444A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	480					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTCCCAAGGCAGCTCTACACT	0.692																																																	0								ENSG00000063176						60	76	71					19																	49132505		2203	4300	6503	SPHK2	SO:0001819	synonymous_variant	0			-	HGNC	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1440A>G	19.37:g.49132505A>G		Somatic	0	195	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	142	13.41	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.A542	ENST00000245222.4	37	c.1626	CCDS12727.1	19																																																																																			-	NULL		0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	protein_coding	OTTHUMT00000466153.1	A		-		49132505	1	no_errors	ENST00000443164	ensembl	human	known	74_37	silent	SNP	0.002	G	G	49132505	A	G	49132505	2	3	126	1	0	0	0	0	0	0	0	1	15054	175	7	5		5	SPHK2	19	49132505	Silent	SNP	A	TCGA-DX-AB2Z-01A-11D-A387-09	4497140	49132505	9996478	78	9475											
KLK4	9622	genome.wustl.edu	37	chr19	51411893	51411893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccgcggtagggcactgCgaagcaatgctgatgctccg	13	13	0	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:51411893C>T	ENST00000324041.1	-	3	416	c.417G>A	c.(415-417)tcG>tcA	p.S139S	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Silent_p.S90S	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TAGGGCACTGCGAAGCAATGC	0.582																																																	0								ENSG00000167749						115	85	95					19																	51411893		2203	4300	6503	KLK4	SO:0001819	synonymous_variant	0			-	HGNC	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.417G>A	19.37:g.51411893C>T		Somatic	0	37	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S139	ENST00000324041.1	37	c.417	CCDS12809.1	19																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.582	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	protein_coding	OTTHUMT00000464449.1	C	NM_004917	-		51411893	-1	no_errors	ENST00000324041	ensembl	human	known	74_37	silent	SNP	0.000	T	T	51411893	C	T	51411893	2	4	126	1	0	0	0	0	0	0	0	1	8408	755	27	1		1	KLK4	19	51411893	Silent	SNP	C	TCGA-DX-AB2Z-01A-11D-A387-09	2279388	51411893	7717090	79	9476											
ZNF772	400720	genome.wustl.edu	37	chr19	57985781	57985781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcatcctccattccatGccaacaacctgaaagcagag	5	15	2	2			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr19:57985781G>T	ENST00000343280.4	-	5	591	c.331C>A	c.(331-333)Cat>Aat	p.H111N	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_5'UTR|ZNF772_ENST00000425074.3_Silent_p.G27G|ZNF772_ENST00000356584.3_Missense_Mutation_p.H70N|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	111					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(1)|large_intestine(4)|lung(3)	9		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)|Lung(386;0.174)		TCCATTCCATGCCAACAACCT	0.443																																					Melanoma(5;289 436 14293 15924 30817)												0								ENSG00000197128						60	64	62					19																	57985781		2203	4300	6503	ZNF772	SO:0001583	missense	0			-	HGNC	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.331C>A	19.37:g.57985781G>T	ENSP00000341165:p.His111Asn	Somatic	0	31	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H111N	ENST00000343280.4	37	c.331	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	G	6.201	0.405215	0.11754	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000291809	T;T	0.05382	3.45;5.7	3.36	2.27	0.28462	.	.	.	.	.	T	0.06554	0.0168	L	0.39245	1.2	0.09310	N	1	B;B	0.19583	0.004;0.037	B;B	0.23574	0.013;0.047	T	0.32719	-0.9896	9	0.49607	T	0.09	.	7.3475	0.26672	0.1499:0.0:0.8501:0.0	.	70;111	A6NJK9;Q68DY9	.;ZN772_HUMAN	N	111;57;70;90	ENSP00000341165:H111N;ENSP00000348992:H70N	ENSP00000291809:H90N	H	-	1	0	ZNF772	62677593	0.000000	0.05858	0.074000	0.20217	0.745000	0.42441	0.401000	0.20948	0.685000	0.31468	0.491000	0.48974	CAT	-	NULL		0.443	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	protein_coding	OTTHUMT00000397447.1	G	NM_001024596	-		57985781	-1	no_errors	ENST00000343280	ensembl	human	known	74_37	missense	SNP	0.005	T	T	57985781	G	T	57985781	3	4	126	1	0	0	0	0	1	0	0	0	18152	1319	46	3	1142	3	ZNF772	19	57985781	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	6573888	57985781	1143202	80	9477											
SOX12	6666	genome.wustl.edu	37	chr20	307338	307338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctgggctttctgtccaGgctgccccctggcccggccg	14	17	1	0			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr20:307338G>A	ENST00000342665.2	+	1	1100	c.770G>A	c.(769-771)aGg>aAg	p.R257K	RP5-1103G7.4_ENST00000414676.1_RNA|RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.R257K	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	257					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTTCTGTCCAGGCTGCCCCCT	0.706																																																	0								ENSG00000177732						17	17	17					20																	307338		2177	4274	6451	SOX12	SO:0001583	missense	0			-	HGNC	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.770G>A	20.37:g.307338G>A	ENSP00000347646:p.Arg257Lys	Somatic	0	33	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q5D038|Q9NUD4	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.R257K	ENST00000342665.2	37	c.770	CCDS12995.1	20	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259998	0.10239	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.97665	-4.48;-4.48	3.23	3.23	0.37069	.	0.879586	0.09387	U	0.809110	D	0.91626	0.7354	N	0.24115	0.695	0.24006	N	0.996194	B	0.28324	0.207	B	0.30105	0.111	T	0.83355	-0.0001	10	0.05620	T	0.96	.	7.4588	0.27283	0.1264:0.0:0.8736:0.0	.	257	O15370	SOX12_HUMAN	K	257	ENSP00000441671:R257K;ENSP00000347646:R257K	ENSP00000347646:R257K	R	+	2	0	SOX12	255338	0.262000	0.24073	1.000000	0.80357	0.615000	0.37417	1.228000	0.32588	1.643000	0.50594	0.195000	0.17529	AGG	-	pirsf_SOX-12/11/4a		0.706	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	protein_coding	OTTHUMT00000077435.2	G	NM_006943	-		307338	1	no_errors	ENST00000342665	ensembl	human	known	74_37	missense	SNP	1.000	A	A	307338	G	A	307338	3	1	126	1	0	0	0	0	1	0	0	0	14951	1000	35	2	772	2	SOX12	20	307338	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		307338	62718182	81	9478											
PRNP	5621	genome.wustl.edu	37	chr20	4680309	4680309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagtgactatgaggaccGttactatcgtgaaaacatgc	11	9	0	3	rs181348299	byFrequency	TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr20:4680309G>A	ENST00000379440.4	+	2	730	c.443G>A	c.(442-444)cGt>cAt	p.R148H	PRNP_ENST00000430350.2_Missense_Mutation_p.R148H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TATGAGGACCGTTACTATCGT	0.547													G|||	2	0.000399361	0	0	5008	,	,		20173	0		0.001	False		,,,				2504	0.001																0			GRCh37	CM054824	PRNP	M	rs181348299	ENSG00000171867						119	91	100					20																	4680309		2203	4300	6503	PRNP	SO:0001583	missense	0			GMAF=0.0005	HGNC	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.443G>A	20.37:g.4680309G>A	ENSP00000368752:p.Arg148His	Somatic	0	41	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP							pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.R148H	ENST00000379440.4	37	c.443	CCDS13080.1	20	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.3	4.272438	0.80580	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.3	5.3	0.74995	Prion/Doppel protein, beta-ribbon domain (3);	0.000000	0.64402	D	0.000001	D	0.96024	0.8705	M	0.83012	2.62	0.52099	D	0.999941	D;B;D	0.89917	1.0;0.371;0.994	D;B;P	0.85130	0.997;0.102;0.716	D	0.96402	0.9297	10	0.87932	D	0	-1.5874	14.4393	0.67303	0.0:0.0:1.0:0.0	.	148;148;180	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	H	148;148;148;87;148	ENSP00000368752:R148H;ENSP00000399376:R148H;ENSP00000411599:R148H;ENSP00000415284:R148H	ENSP00000368752:R148H	R	+	2	0	PRNP	4628309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.119000	0.57891	2.486000	0.83907	0.655000	0.94253	CGT	-	pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion		0.547	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	protein_coding	OTTHUMT00000077820.2	G	NM_000311	rs181348299		4680309	1	no_errors	ENST00000379440	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4680309	G	A	4680309	3	1	126	1	0	0	0	0	1	0	0	0	12549	1145	40	1	445	1	PRNP	20	4680309	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	4372971	4680309	58345211	82	9479											
RNF160	26046	genome.wustl.edu	37	chr21	30316157	30316157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttcctttgagatatacGttaatgtttcacacatgggt	9	7	1	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chr21:30316157G>A	ENST00000361371.5	-	23	4131	c.4052C>T	c.(4051-4053)aCg>aTg	p.T1351M	LTN1_ENST00000389194.2_Missense_Mutation_p.T1397M			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1351					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGAGATATACGTTAATGTTTC	0.358																																																	0								ENSG00000198862						142	137	139					21																	30316157		2203	4300	6503	LTN1	SO:0001583	missense	0			-	HGNC	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4052C>T	21.37:g.30316157G>A	ENSP00000354977:p.Thr1351Met	Somatic	0	67	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	77	10.47	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.T1397M	ENST00000361371.5	37	c.4190		21	.	.	.	.	.	.	.	.	.	.	G	9.702	1.154850	0.21371	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.19105	2.17;2.18	4.81	3.92	0.45320	.	0.396811	0.27068	N	0.021100	T	0.11153	0.0272	L	0.27053	0.805	0.46131	D	0.99888	P	0.45569	0.861	B	0.29353	0.101	T	0.08617	-1.0713	10	0.48119	T	0.1	.	10.5696	0.45192	0.0:0.1443:0.7058:0.1499	.	1351	O94822	LTN1_HUMAN	M	1397;1351	ENSP00000373846:T1397M;ENSP00000354977:T1351M	ENSP00000354977:T1351M	T	-	2	0	LTN1	29238028	1.000000	0.71417	0.959000	0.39883	0.569000	0.35902	3.142000	0.50601	1.377000	0.46286	-0.182000	0.12963	ACG	-	NULL		0.358	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	protein_coding	OTTHUMT00000472108.1	G	NM_015565	-		30316157	-1	no_errors	ENST00000389194	ensembl	human	known	74_37	missense	SNP	0.891	A	A	30316157	G	A	30316157	3	1	126	1	0	0	0	0	1	0	0	0	13463	1145	40	1	1280	1	RNF160	21	30316157	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		30316157	17813738	83	9480											
ZBED1	9189	genome.wustl.edu	37	chrX	2408604	2408604	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccggagtaggcgatctGggccatgcagatgcggcagt	16	9	1	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chrX:2408604G>A	ENST00000381223.4	-	2	360	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	ZBED1_ENST00000381218.3_Nonsense_Mutation_p.Q53*|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Nonsense_Mutation_p.Q53*	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	53					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				TAGGCGATCTGGGCCATGCAG	0.562																																																	0								ENSG00000214717						226	201	210					X																	2408604		2203	4296	6499	ZBED1	SO:0001587	stop_gained	0			-	HGNC	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.157C>T	X.37:g.2408604G>A	ENSP00000370621:p.Gln53*	Somatic	0	200	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	92	23.97	Q96BY4	Nonsense_Mutation	SNP							pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.Q53*	ENST00000381223.4	37	c.157	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336234	0.81801	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.46	2.46	0.29980	.	0.295883	0.20570	U	0.089745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-23.935	12.7367	0.57228	0.0:0.0:1.0:0.0	.	.	.	.	X	53	.	ENSP00000370616:Q53X	Q	-	1	0	ZBED1	2418604	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	6.339000	0.72969	0.995000	0.38917	0.425000	0.28330	CAG	-	pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd		0.562	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	protein_coding	OTTHUMT00000144310.3	G	NM_004729	-		2408604	-1	no_errors	ENST00000381218	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	2408604	G	A	2408604	4	1	126	1	0	0	0	0	0	1	0	0	17524	1357	47	2	1931	2	ZBED1	23	2408604	Nonsense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09		2408604	152861956	84	9481											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic					0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT	TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	126	1	0	1	1	0	0	0	0	0	14304	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-DX-AB2Z-01A-11D-A387-09	47942154	50350758	104919802	85	9482											
NAP1L3	4675	genome.wustl.edu	37	chrX	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-													gccgctgctgctgccactagTgctgctgctgctgctgctgt							TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586																																																	0								ENSG00000186310			192,3509		5,127,55,1456,470						-0.4	0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				NAP1L3	SO:0001651	inframe_deletion	0				HGNC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del	Somatic	0	76	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	B2RCM0|O60788	In_Frame_Del	DEL							pfam_NAP_family	p.S50in_frame_del	ENST00000373079.3	37	c.151_149	CCDS14465.1	X																																																																																			-	NULL		0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	protein_coding	OTTHUMT00000057449.1	TGC	NM_004538			92928155	-1	no_errors	ENST00000373079	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.001	-	-	92928155	TGC	-	92928153	7	5	126	1	0	1	0	1	0	0	0	0	10160	1696	59	0	1373	0	NAP1L3	23	92928153	In_Frame_Del	DEL	TGC	TCGA-DX-AB2Z-01A-11D-A387-09	42577395	92928153	62342407	86	9483											
IDH3G	3421	genome.wustl.edu	37	chrX	153055183	153055183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacccttcagggccacgcgGttccggcggatggccatgat	13	14	2	1			TCGA-DX-AB2Z-01A-11D-A387-09	TCGA-DX-AB2Z-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24690075-90d4-4ca2-89da-feff903d6810	3c1d12e0-8846-46c2-86ba-a6ef01cbf595	g.chrX:153055183G>T	ENST00000217901.5	-	5	526	c.330C>A	c.(328-330)aaC>aaA	p.N110K	IDH3G_ENST00000370092.3_Missense_Mutation_p.N110K|IDH3G_ENST00000427365.2_Missense_Mutation_p.N52K|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.N110K	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	110					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCACGCGGTTCCGGCGGA	0.552																																																	0								ENSG00000067829						57	40	46					X																	153055183		2201	4298	6499	IDH3G	SO:0001583	missense	0			-	HGNC		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.330C>A	X.37:g.153055183G>T	ENSP00000217901:p.Asn110Lys	Somatic	0	50	0		0.404490779087153				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	E9PDD5|Q9BUU5	Missense_Mutation	SNP							pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.N110K	ENST00000217901.5	37	c.330	CCDS14730.1	X	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675849	0.67928	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.72725	0.53;0.53;0.53;0.53;0.53;-0.68	5.34	3.3	0.37823	Isopropylmalate dehydrogenase-like domain (2);	0.196903	0.51477	D	0.000089	D	0.87904	0.6295	H	0.97390	3.995	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88698	0.3213	10	0.87932	D	0	.	8.8788	0.35363	0.2585:0.0:0.7415:0.0	.	110;110	E9PDD5;P51553	.;IDH3G_HUMAN	K	110;110;110;52;6;87;21	ENSP00000359110:N110K;ENSP00000217901:N110K;ENSP00000359111:N110K;ENSP00000408529:N52K;ENSP00000401862:N87K;ENSP00000402747:N21K	ENSP00000217901:N110K	N	-	3	2	IDH3G	152708377	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	1.065000	0.30592	1.042000	0.40150	0.529000	0.55759	AAC	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.552	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	protein_coding	OTTHUMT00000061084.27	G		-		153055183	-1	no_errors	ENST00000217901	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153055183	G	T	153055183	3	4	126	1	0	0	0	0	1	0	0	0	7500	1252	44	3	950	3	IDH3G	23	153055183	Missense_Mutation	SNP	G	TCGA-DX-AB2Z-01A-11D-A387-09	60127030	153055183	2215377	87	9484											
IGSF3	3321	genome.wustl.edu	37	chr1	117142613	117142613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggtcctctccgccagtCgcgtccaggtgttgttgtag	14	11	1	0	rs76151115	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr1:117142613C>T	ENST00000369486.3	-	7	2744	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	IGSF3_ENST00000369483.1_Missense_Mutation_p.R680Q|IGSF3_ENST00000318837.6_Missense_Mutation_p.R680Q	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	660	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCCGCCAGTCGCGTCCAGGT	0.612																																																	0								ENSG00000143061						69	54	59					1																	117142613		2203	4300	6503	IGSF3	SO:0001583	missense	0			-	HGNC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1979G>A	1.37:g.117142613C>T	ENSP00000358498:p.Arg660Gln	Somatic	0	45	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	A6NJZ6|A6NMC7	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R680Q	ENST00000369486.3	37	c.2039	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979753	0.34942	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.04;4.04	4.56	2.7	0.31948	Immunoglobulin subtype (1);	0.270543	0.31010	N	0.008430	T	0.01353	0.0044	L	0.29908	0.895	0.36040	D	0.840027	D;D;D	0.59767	0.982;0.986;0.986	B;P;P	0.45310	0.345;0.476;0.476	T	0.64071	-0.6493	10	0.22706	T	0.39	-28.9658	8.7768	0.34767	0.0:0.8142:0.0:0.1858	.	680;660;680	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Q	660;680;680	ENSP00000358498:R660Q;ENSP00000358495:R680Q;ENSP00000321184:R680Q	ENSP00000321184:R680Q	R	-	2	0	IGSF3	116944136	0.789000	0.28775	0.602000	0.28890	0.526000	0.34562	2.194000	0.42668	0.550000	0.28991	-0.384000	0.06662	CGA	-	smart_Ig_sub		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	protein_coding	OTTHUMT00000059040.1	C	NM_001542	rs76151115		117142613	-1	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	SNP	0.716	T	T	117142613	C	T	117142613	3	4	127	1	0	0	0	0	1	0	0	0	7603	884	31	1	1625	1	IGSF3	1	117142613	Missense_Mutation	SNP	C	TCGA-DX-AB30-01A-11D-A38Z-09		117142613	132108008	1	9485											
NBPF14	25832	genome.wustl.edu	37	chr1	148023129	148023129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttcttcagccttctgcatCtccctgatgagccaggtggg	10	12	4	2	rs202128472	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr1:148023129C>G	ENST00000369219.1	-	4	379	c.363G>C	c.(361-363)gaG>gaC	p.E121D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	121	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCTTCTGCATCTCCCTGATGA	0.512																																																	0								ENSG00000122497																																			NBPF14	SO:0001583	missense	0			-	HGNC	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.363G>C	1.37:g.148023129C>G	ENSP00000358221:p.Glu121Asp	Somatic	0	22	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP							pfam_NBPF_dom	p.E121D	ENST00000369219.1	37	c.363		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.16|11.16	1.556734|1.556734	0.27827|0.27827	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219|ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	T|.	0.09723|.	2.95|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.60104|0.60104	0.2243|0.2243	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;P|.	0.71674|.	0.998;0.936|.	D;D|.	0.79784|.	0.993;0.924|.	T|T	0.60707|0.60707	-0.7210|-0.7210	8|4	0.72032|.	D|.	0.01|.	.|.	5.844|5.844	0.18652|0.18652	0.0:0.9991:0.0:9.0E-4|0.0:0.9991:0.0:9.0E-4	.|.	121;386|.	Q5TI25;Q5VTG7|.	NBPFE_HUMAN;.|.	D|T	121|127;132;132;132;132;132;132;132	ENSP00000358221:E121D|.	ENSP00000358221:E121D|.	E|R	-|-	3|2	2|0	NBPF14|NBPF14	146489753|146489753	0.985000|0.985000	0.35326|0.35326	0.183000|0.183000	0.23137|0.23137	0.228000|0.228000	0.25075|0.25075	1.124000|1.124000	0.31320|0.31320	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	GAG|AGA	-	pfam_NBPF_dom		0.512	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	protein_coding		C	NM_015383	rs202128472		148023129	-1	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	SNP	0.924	G	G	148023129	C	G	148023129	3	3	127	1	0	0	0	0	1	0	0	0	10196	912	32	4	2478	4	NBPF14	1	148023129	Missense_Mutation	SNP	C	TCGA-DX-AB30-01A-11D-A38Z-09	30880516	148023129	101227492	2	9486											
FCRL5	83416	genome.wustl.edu	37	chr1	157490262	157490262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagagcagcagtgcccccGcagcaaggcctgctatgctg	13	13	0	1			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr1:157490262G>A	ENST00000361835.3	-	12	2748	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.A864V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	864					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGTGCCCCCGCAGCAAGGCC	0.627																																																	0								ENSG00000143297						27	27	27					1																	157490262		2198	4293	6491	FCRL5	SO:0001583	missense	0			-	HGNC	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2591C>T	1.37:g.157490262G>A	ENSP00000354691:p.Ala864Val	Somatic	0	16	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A864V	ENST00000361835.3	37	c.2591	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747524	0.30955	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.42900	0.96;0.97	4.72	0.266	0.15617	.	.	.	.	.	T	0.09555	0.0235	L	0.41710	1.295	0.09310	N	1	P;P	0.44659	0.84;0.694	B;B	0.32090	0.14;0.061	T	0.11616	-1.0580	9	0.35671	T	0.21	.	3.636	0.08148	0.3758:0.2124:0.4118:0.0	.	864;864	A6NJE8;Q96RD9	.;FCRL5_HUMAN	V	864	ENSP00000354691:A864V;ENSP00000349434:A864V	ENSP00000349434:A864V	A	-	2	0	FCRL5	155756886	0.002000	0.14202	0.000000	0.03702	0.177000	0.22998	0.602000	0.24134	0.170000	0.19704	0.460000	0.39030	GCG	-	NULL		0.627	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	protein_coding	OTTHUMT00000046263.1	G	NM_031281	-		157490262	-1	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	SNP	0.000	A	A	157490262	G	A	157490262	3	1	127	1	0	0	0	0	1	0	0	0	5800	1087	38	1	366	1	FCRL5	1	157490262	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09	9467133	157490262	91760359	3	9487											
TGFBRAP1	9392	genome.wustl.edu	37	chr2	105886143	105886143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctctccatgggcagGccagctccctgcagcctctc	11	17	2	0			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr2:105886143G>A	ENST00000393359.2	-	11	2418	c.1992C>T	c.(1990-1992)ggC>ggT	p.G664G	TGFBRAP1_ENST00000258449.1_Silent_p.G664G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	664					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCATGGGCAGGCCAGCTCCCT	0.657																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0								ENSG00000135966						17	17	17					2																	105886143		2201	4298	6499	TGFBRAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1992C>T	2.37:g.105886143G>A		Somatic	0	41	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A8K5R7|D3DVJ8|O60466	Silent	SNP							pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.G664	ENST00000393359.2	37	c.1992	CCDS2067.1	2																																																																																			-	pfam_Clathrin_H-chain/VPS_repeat		0.657	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	protein_coding	OTTHUMT00000253354.2	G	NM_004257	-		105886143	-1	no_errors	ENST00000258449	ensembl	human	known	74_37	silent	SNP	0.540	A	A	105886143	G	A	105886143	2	1	127	1	0	0	0	0	0	0	0	1	15831	1190	42	2		2	TGFBRAP1	2	105886143	Silent	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		105886143	137313230	4	9488											
SCN2A	6326	genome.wustl.edu	37	chr2	166152401	166152401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaccagggaatcccttgCtgctattgaacaacgcattg	8	11	0	1			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr2:166152401C>T	ENST00000375437.2	+	2	358	c.68C>T	c.(67-69)gCt>gTt	p.A23V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A23V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A23V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A23V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	23					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATCCCTTGCTGCTATTGAA	0.483																																																	0								ENSG00000136531						86	77	80					2																	166152401		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.68C>T	2.37:g.166152401C>T	ENSP00000364586:p.Ala23Val	Somatic	0	46	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A23V	ENST00000375437.2	37	c.68	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446288	0.63178	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000003	D	0.96346	0.8808	L	0.53617	1.68	0.47009	D	0.999283	D;P	0.56287	0.975;0.925	P;P	0.54544	0.755;0.574	D	0.95634	0.8692	10	0.44086	T	0.13	.	14.3619	0.66779	0.1479:0.8521:0.0:0.0	.	23;23	Q99250-2;Q99250	.;SCN2A_HUMAN	V	23	ENSP00000406454:A23V;ENSP00000364586:A23V;ENSP00000349973:A23V;ENSP00000283256:A23V;ENSP00000364576:A23V	ENSP00000283256:A23V	A	+	2	0	SCN2A	165860647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.443000	0.44881	2.619000	0.88677	0.655000	0.94253	GCT	-	NULL		0.483	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166152401	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166152401	C	T	166152401	3	4	127	1	0	0	0	0	1	0	0	0	13924	797	28	2	70	2	SCN2A	2	166152401	Missense_Mutation	SNP	C	TCGA-DX-AB30-01A-11D-A38Z-09	60266258	166152401	77046972	5	9489											
CHDH	55349	genome.wustl.edu	37	chr3	53857394	53857394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagccattcatgtcctcGgtgagcgggtagccggcctg	15	11	1	1			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr3:53857394G>A	ENST00000315251.6	-	3	1079	c.642C>T	c.(640-642)acC>acT	p.T214T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	214					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCATGTCCTCGGTGAGCGGGT	0.627																																																	0								ENSG00000016391						39	40	40					3																	53857394		2202	4300	6502	CHDH	SO:0001819	synonymous_variant	0			-	HGNC	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.642C>T	3.37:g.53857394G>A		Somatic	0	66	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	1	98.51	Q9NY17	Silent	SNP							pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.T214	ENST00000315251.6	37	c.642	CCDS2873.1	3																																																																																			-	pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase		0.627	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	protein_coding	OTTHUMT00000350567.2	G	NM_018397	-		53857394	-1	no_errors	ENST00000315251	ensembl	human	known	74_37	silent	SNP	0.043	A	A	53857394	G	A	53857394	2	1	127	1	0	0	0	0	0	0	0	1	3335	1103	39	1		1	CHDH	3	53857394	Silent	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		53857394	144165036	6	9490											
IL8	3576	genome.wustl.edu	37	chr4	74607335	74607356	+	Frame_Shift_Del	DEL	ATTTATCAAAGAACTGAGAGTG	ATTTATCAAAGAACTGAGAGTG	-													tccaaacctttccaccccaaAtttatcaaagaactgagagt					rs369065964|rs200090643|rs145018121	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	ATTTATCAAAGAACTGAGAGTG	ATTTATCAAAGAACTGAGAGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr4:74607335_74607356delATTTATCAAAGAACTGAGAGTG	ENST00000307407.3	+	2	294_315	c.141_162delATTTATCAAAGAACTGAGAGTG	c.(139-162)aaatttatcaaagaactgagagtgfs	p.KFIKELRV47fs	IL8_ENST00000401931.1_Frame_Shift_Del_p.KFIKELRV47fs	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		47					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		TCCACCCCAAATTTATCAAAGAACTGAGAGTGATTGAGAGTG	0.369																																																	0								ENSG00000169429																																			IL8	SO:0001589	frameshift_variant	0				HGNC																												ENST00000307407.3:c.141_162delATTTATCAAAGAACTGAGAGTG	4.37:g.74607335_74607356delATTTATCAAAGAACTGAGAGTG	ENSP00000306512:p.Lys47fs	Somatic					0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Frame_Shift_Del	DEL							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.F48fs	ENST00000307407.3	37	c.141_162	CCDS34005.1	4																																																																																			-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.369	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL8	protein_coding	OTTHUMT00000322211.1	ATTTATCAAAGAACTGAGAGTG				74607356	1	no_errors	ENST00000307407	ensembl	human	known	74_37	frame_shift_del	DEL	0.497:0.041:0.001:0.007:0.844:0.926:0.923:0.931:0.978:0.993:0.998:0.998:0.984:0.984:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000	-	-	74607356	ATTTATCAAAGAACTGAGAGTG	-	74607335	7	5	127	1	0	1	0	1	0	0	0	0	7708	98	4	0	147	0	IL8	4	74607335	Frame_Shift_Del	DEL	ATTTATCAAAGAACTGAGAGTG	TCGA-DX-AB30-01A-11D-A38Z-09		74607335	116546941	7	9491											
TRPC7	57113	genome.wustl.edu	37	chr5	135692363	135692363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccagggcggtgaggacaGggtcttcgctggacagggac	18	10	1	1			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr5:135692363G>T	ENST00000513104.1	-	2	995	c.713C>A	c.(712-714)cCt>cAt	p.P238H	TRPC7_ENST00000355180.3_Missense_Mutation_p.P238H|TRPC7_ENST00000426057.2_Missense_Mutation_p.P238H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	238					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGAGGACAGGGTCTTCGCT	0.557																																																	0								ENSG00000069018						51	56	54					5																	135692363		2127	4246	6373	TRPC7	SO:0001583	missense	0			-	HGNC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.713C>A	5.37:g.135692363G>T	ENSP00000426070:p.Pro238His	Somatic	0	23	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P238H	ENST00000513104.1	37	c.713	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605360	0.87157	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.85411	-1.98;-1.98;-1.98	5.38	5.38	0.77491	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	M	0.91300	3.195	0.48395	D	0.999648	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.94942	0.8092	10	0.87932	D	0	-8.8332	19.3333	0.94303	0.0:0.0:1.0:0.0	.	238;238;238;238	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	238	ENSP00000347312:P238H;ENSP00000441628:P238H;ENSP00000426070:P238H	ENSP00000265193:P238H	P	-	2	0	TRPC7	135720262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	CCT	-	pfam_TRP_dom,tigrfam_TRP_channel		0.557	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	G	NM_020389	-		135692363	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135692363	G	T	135692363	3	4	127	1	0	0	0	0	1	0	0	0	16591	1000	35	3	1919	3	TRPC7	5	135692363	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		135692363	45222897	8	9492											
TNXB	7148	genome.wustl.edu	37	chr6	32064925	32064925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgagaagcctgcccgGcacacacacacgccctgcac	11	18	0	1	rs150957138		TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr6:32064925G>A	ENST00000479795.1	-	3	845	c.705C>T	c.(703-705)tgC>tgT	p.C235C	TNXB_ENST00000375244.3_Silent_p.C235C|TNXB_ENST00000375247.2_Silent_p.C235C			P22105	TENX_HUMAN	tenascin XB	235	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCCTGCCCGGCACACACACA	0.706																																																	0								ENSG00000168477						19	23	22					6																	32064925		2145	4231	6376	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.705C>T	6.37:g.32064925G>A		Somatic	0	40	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.C235	ENST00000479795.1	37	c.705		6																																																																																			-	pfam_EGF_extracell,smart_EG-like_dom		0.706	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	protein_coding	OTTHUMT00000357059.1	G	NM_019105	-		32064925	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	0.052	A	A	32064925	G	A	32064925	2	1	127	1	0	0	0	0	0	0	0	1	16353	1195	42	2		2	TNXB	6	32064925	Silent	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		32064925	139050142	9	9493											
PDSS2	57107	genome.wustl.edu	37	chr6	107475958	107475958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgaagtcacacctttGccagctttgattctttctcg	7	11	3	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr6:107475958G>A	ENST00000369037.4	-	8	1342	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	PDSS2_ENST00000453874.2_Silent_p.G253G	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	355					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCACACCTTTGCCAGCTTTGA	0.458																																																	0								ENSG00000164494						66	62	63					6																	107475958		2203	4300	6503	PDSS2	SO:0001819	synonymous_variant	0			-	HGNC	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.1065C>T	6.37:g.107475958G>A		Somatic	0	64	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	5	87.50	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP							pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.G355	ENST00000369037.4	37	c.1065	CCDS5059.1	6																																																																																			-	superfamily_Terpenoid_synth		0.458	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	protein_coding	OTTHUMT00000131954.1	G	NM_020381	-		107475958	-1	no_errors	ENST00000369037	ensembl	human	known	74_37	silent	SNP	1.000	A	A	107475958	G	A	107475958	2	1	127	1	0	0	0	0	0	0	0	1	11696	1306	46	2		2	PDSS2	6	107475958	Silent	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09	75411033	107475958	63639109	10	9494											
MLL3	58508	genome.wustl.edu	37	chr7	151962269	151962269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctcccgggctgtcgcaCactgcacagtttgcatcttc	10	14	2	0			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr7:151962269C>T	ENST00000262189.6	-	8	1256	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	KMT2C_ENST00000355193.2_Silent_p.V346V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	346					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)										GGCTGTCGCACACTGCACAGT	0.368																																																	0								ENSG00000055609						108	97	101					7																	151962269		2203	4298	6501	KMT2C	SO:0001819	synonymous_variant	0			-	HGNC	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.1038G>A	7.37:g.151962269C>T		Somatic	1	136	0.73		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	108	10.74	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V346	ENST00000262189.6	37	c.1038	CCDS5931.1	7																																																																																			-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	C		-		151962269	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	SNP	1.000	T	T	151962269	C	T	151962269	2	4	127	1	0	0	0	0	0	0	0	1	9624	465	17	2		2	MLL3	7	151962269	Silent	SNP	C	TCGA-DX-AB30-01A-11D-A38Z-09		151962269	7176394	11	9495											
NTNG2	84628	genome.wustl.edu	37	chr9	135116314	135116314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgtaactgcaaccagAtaggctccgtgcacgaccgg	12	12	0	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr9:135116314A>G	ENST00000393229.3	+	7	2016	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	NTNG2_ENST00000393228.4_Missense_Mutation_p.I406V|NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000360670.3_Missense_Mutation_p.I420V	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	414	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTGCAACCAGATAGGCTCCGT	0.701																																																	0								ENSG00000196358						46	42	43					9																	135116314		2202	4300	6502	NTNG2	SO:0001583	missense	0			-	HGNC	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1240A>G	9.37:g.135116314A>G	ENSP00000376921:p.Ile414Val	Somatic	0	42	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	0	100.00	Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.I420V	ENST00000393229.3	37	c.1258	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	A	3.940	-0.014504	0.07681	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	T;T;T	0.60548	0.18;0.18;0.18	4.46	4.46	0.54185	EGF-like, laminin (3);	0.127925	0.50627	D	0.000113	T	0.31009	0.0783	N	0.10707	0.03	0.80722	D	1	B	0.26002	0.139	B	0.25405	0.06	T	0.15723	-1.0427	10	0.07030	T	0.85	.	9.571	0.39427	0.8234:0.1766:0.0:0.0	.	414	Q96CW9	NTNG2_HUMAN	V	414;406;420	ENSP00000376921:I414V;ENSP00000376920:I406V;ENSP00000353888:I420V	ENSP00000353888:I420V	I	+	1	0	NTNG2	134106135	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	2.715000	0.47210	1.773000	0.52216	0.459000	0.35465	ATA	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.701	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	protein_coding	OTTHUMT00000054779.1	A	NM_032536	-		135116314	1	no_errors	ENST00000360670	ensembl	human	known	74_37	missense	SNP	1.000	G	G	135116314	A	G	135116314	3	3	127	1	0	0	0	0	1	0	0	0	10707	333	12	5	1262	5	NTNG2	9	135116314	Missense_Mutation	SNP	A	TCGA-DX-AB30-01A-11D-A38Z-09		135116314	6097117	12	9496											
ZMYND11	10771	genome.wustl.edu	37	chr10	226039	226039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagattatacggaaccagaaGcagattgccaacattgaccg	10	9	0	4			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr10:226039G>C	ENST00000397962.3	+	2	515	c.87G>C	c.(85-87)aaG>aaC	p.K29N	ZMYND11_ENST00000402736.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K29N|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000397959.3_Missense_Mutation_p.K29N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.K29N|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K29N|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000309776.4_5'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	29					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGAACCAGAAGCAGATTGCCA	0.388																																																	0								ENSG00000015171						123	112	115					10																	226039		1568	3582	5150	ZMYND11	SO:0001583	missense	0			-	HGNC	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.87G>C	10.37:g.226039G>C	ENSP00000381053:p.Lys29Asn	Somatic	0	122	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	8	87.50	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP							pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.K29N	ENST00000397962.3	37	c.87	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091112	0.76756	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000402736;ENST00000397955	.	.	.	6.02	6.02	0.97574	.	0.000000	0.64402	U	0.000006	T	0.58380	0.2118	L	0.27053	0.805	0.32847	D	0.506170	D;D;D;D;D;D;D	0.89917	0.999;0.981;1.0;0.999;0.999;0.998;0.999	D;D;D;D;D;D;D	0.80764	0.957;0.95;0.946;0.994;0.946;0.991;0.994	T	0.58160	-0.7685	8	0.26408	T	0.33	-18.3754	13.7061	0.62639	0.07:0.0:0.93:0.0	.	29;29;29;29;29;29;29	Q2LD45;B7Z293;B7Z2J6;Q2LD48;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.	N	29	.	ENSP00000371003:K29N	K	+	3	2	ZMYND11	216039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.122000	0.50446	2.850000	0.98022	0.650000	0.86243	AAG	-	NULL		0.388	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	protein_coding	OTTHUMT00000046382.4	G	NM_006624	-		226039	1	no_errors	ENST00000381591	ensembl	human	known	74_37	missense	SNP	1.000	C	C	226039	G	C	226039	3	2	127	1	0	0	0	0	1	0	0	0	17713	962	34	4	89	4	ZMYND11	10	226039	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		226039	135308708	13	9497											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651210	1651239	+	In_Frame_Del	DEL	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	-													cggctgtggaggctgtggggGctgtggctccggctgtgcgg					rs190828070|rs553119014|rs71454096|rs117674201|rs369130959	byFrequency	TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr11:1651210_1651239delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	ENST00000399676.2	+	1	178_207	c.140_169delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	c.(139-171)ggctgtggctccggctgtgcgggctgtggggga>gga	p.47_57GCGSGCAGCGG>G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47				A -> G (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.A53A(1)|p.G54V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggctgtgggggctgtggctccggctgtgcgggctgtgggggatgtggctc	0.691																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)						ENSG00000185940																																			KRTAP5-5	SO:0001651	inframe_deletion	0				HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.140_169delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	11.37:g.1651210_1651239delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	ENSP00000382584:p.Gly47_Gly56del	Somatic					0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MWN2	In_Frame_Del	DEL							NULL	p.GCAGCGGCGS51in_frame_del	ENST00000399676.2	37	c.140_169	CCDS41592.1	11																																																																																			-	NULL		0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG				1651239	1	no_errors	ENST00000399676	ensembl	human	known	74_37	in_frame_del	DEL	0.818:0.967:0.993:0.997:0.997:0.999:1.000:0.998:0.998:0.991:0.983:0.976:1.000:1.000:0.999:0.995:0.061:0.083:0.113:0.325:0.996:0.999:1.000:1.000:0.999:0.994:0.996:0.995:0.546:0.579	-	-	1651239	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	-	1651210	7	5	127	1	0	1	0	1	0	0	0	0	8566	1203	42	0	142	0	KRTAP5-5	11	1651210	In_Frame_Del	DEL	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	TCGA-DX-AB30-01A-11D-A38Z-09		1651210	133355306	14	9498											
EED	8726	genome.wustl.edu	37	chr11	85977214	85977214	+	Frame_Shift_Del	DEL	T	T	-													aattcaaagagaatgatgaaTgcaattaaggaatcttatga							TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr11:85977214delT	ENST00000263360.6	+	8	1502	c.816delT	c.(814-816)aatfs	p.N272fs	EED_ENST00000351625.6_Frame_Shift_Del_p.N272fs|EED_ENST00000327320.4_Frame_Shift_Del_p.N272fs|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	272	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)			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)				GAATGATGAATGCAATTAAGG	0.299																																																	0								ENSG00000074266						84	95	91					11																	85977214		2202	4283	6485	EED	SO:0001589	frameshift_variant	0				HGNC	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.816delT	11.37:g.85977214delT	ENSP00000263360:p.Asn272fs	Somatic	0	152	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	88	15	85.44	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N272fs	ENST00000263360.6	37	c.816	CCDS8273.1	11																																																																																			-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.299	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	protein_coding	OTTHUMT00000393733.1	T	NM_003797			85977214	1	no_errors	ENST00000263360	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	85977214	T	-	85977214	7	5	127	1	0	1	0	1	0	0	0	0	4924	1461	51	0	846	0	EED	11	85977214	Frame_Shift_Del	DEL	T	TCGA-DX-AB30-01A-11D-A38Z-09	84326004	85977214	49029302	15	9499											
FAT3	120114	genome.wustl.edu	37	chr11	92615944	92615944	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgcgaacgagaggagtgtGagaacggaggctcctgcgtg	18	7	0	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr11:92615944G>T	ENST00000298047.6	+	23	12339	c.12322G>T	c.(12322-12324)Gag>Tag	p.E4108*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.E3958*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E4108*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.E443*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4108	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)				AGAGGAGTGTGAGAACGGAGG	0.632										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						66	88	81					11																	92615944		2166	4248	6414	FAT3	SO:0001587	stop_gained	0			-	HGNC	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.12322G>T	11.37:g.92615944G>T	ENSP00000298047:p.Glu4108*	Somatic	0	35	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B5MDB0|Q96AU6	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E4108*	ENST00000298047.6	37	c.12322		11	.	.	.	.	.	.	.	.	.	.	G	39	7.359329	0.98235	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.37	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.3253	0.66515	0.0718:0.0:0.9282:0.0	.	.	.	.	X	4108;4108;3958;443	.	ENSP00000298047:E4108X	E	+	1	0	FAT3	92255592	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	5.499000	0.66937	1.401000	0.46761	0.655000	0.94253	GAG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.632	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		G	NM_001008781	-		92615944	1	no_errors	ENST00000298047	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	92615944	G	T	92615944	4	4	127	1	0	0	0	0	0	1	0	0	5693	1291	45	3	12412	3	FAT3	11	92615944	Nonsense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09	6638730	92615944	42390572	16	9500											
TSC22D1	8848	genome.wustl.edu	37	chr13	45008959	45008959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctattagttctttgatttGctctttgaggacctccactt	6	10	3	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr13:45008959G>T	ENST00000458659.2	-	3	3515	c.3025C>A	c.(3025-3027)Caa>Aaa	p.Q1009K	TSC22D1_ENST00000261489.2_Missense_Mutation_p.Q80K|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1009	Leucine-zipper.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTTTGATTTGCTCTTTGAGG	0.443																																																	0								ENSG00000102804						92	102	98					13																	45008959		2203	4300	6503	TSC22D1	SO:0001583	missense	0			-	HGNC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3025C>A	13.37:g.45008959G>T	ENSP00000397435:p.Gln1009Lys	Somatic	0	49	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP							pfam_TSC-22_Dip_Bun	p.Q1009K	ENST00000458659.2	37	c.3025	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294598	0.60086	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	T	0.39056	1.1	5.76	4.92	0.64577	.	0.335061	0.22381	N	0.060817	T	0.51568	0.1682	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.999;0.982	D;D	0.81914	0.995;0.968	T	0.47636	-0.9102	10	0.39692	T	0.17	.	12.5621	0.56288	0.08:0.0:0.92:0.0	.	1009;80	Q15714;Q15714-2	T22D1_HUMAN;.	K	1009;80	ENSP00000397435:Q1009K	ENSP00000261489:Q80K	Q	-	1	0	TSC22D1	43906959	1.000000	0.71417	0.995000	0.50966	0.857000	0.48899	9.869000	0.99810	1.440000	0.47531	-0.136000	0.14681	CAA	-	pfam_TSC-22_Dip_Bun		0.443	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	protein_coding	OTTHUMT00000044743.2	G	NM_006022	-		45008959	-1	no_errors	ENST00000458659	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45008959	G	T	45008959	3	4	127	1	0	0	0	0	1	0	0	0	16614	1328	46	3	200	3	TSC22D1	13	45008959	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		45008959	70160919	17	9501											
SLC24A1	9187	genome.wustl.edu	37	chr15	65943029	65943029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaatgatgagaaaggtGtagaagatggagggggaagt	16	2	0	4			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr15:65943029G>T	ENST00000261892.6	+	7	2829	c.2542G>T	c.(2542-2544)Gta>Tta	p.V848L	SLC24A1_ENST00000546330.1_Missense_Mutation_p.V830L|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.V830L|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V734L|SLC24A1_ENST00000537259.1_Missense_Mutation_p.V830L|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V848L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	848					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGAAAGGTGTAGAAGATGG	0.498																																																	0								ENSG00000074621						44	47	46					15																	65943029		2057	4181	6238	SLC24A1	SO:0001583	missense	0			-	HGNC	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2542G>T	15.37:g.65943029G>T	ENSP00000261892:p.Val848Leu	Somatic	0	94	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O43485|O75184|Q17RM9	Missense_Mutation	SNP							pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.V848L	ENST00000261892.6	37	c.2542	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123009	0.20959	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64260	0.23;0.0;1.98;1.98;-0.09;1.98	3.81	-7.24	0.01475	.	7.022360	0.00644	N	0.000537	T	0.39963	0.1098	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.002;0.003;0.002	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.002;0.004;0.002	T	0.43540	-0.9385	10	0.10111	T	0.7	.	15.7549	0.78015	0.2685:0.0:0.7315:0.0	.	175;830;848;848;830;830	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	L	830;848;830;734;848;830	ENSP00000439693:V830L;ENSP00000261892:V848L;ENSP00000341837:V830L;ENSP00000445163:V734L;ENSP00000381991:V848L;ENSP00000439190:V830L	ENSP00000261892:V848L	V	+	1	0	SLC24A1	63730083	0.005000	0.15991	0.000000	0.03702	0.072000	0.16883	0.309000	0.19332	-1.503000	0.01812	-0.734000	0.03567	GTA	-	tigrfam_K/Na/Ca-exchanger		0.498	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	protein_coding	OTTHUMT00000397304.1	G	NM_004727	-		65943029	1	no_errors	ENST00000261892	ensembl	human	known	74_37	missense	SNP	0.000	T	T	65943029	G	T	65943029	3	4	127	1	0	0	0	0	1	0	0	0	14473	1377	48	3	670	3	SLC24A1	15	65943029	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		65943029	36588363	18	9502											
CACNA1H	8912	genome.wustl.edu	37	chr16	1256105	1256105	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccccacctgtccgcagcGtctgggagatcgtggggcag	15	15	1	1	rs531253297		TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr16:1256105G>A	ENST00000348261.5	+	12	2853	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	CACNA1H_ENST00000358590.4_Splice_Site_p.V869I|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Splice_Site_p.V869I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	869					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGTCCGCAGCGTCTGGGAGAT	0.701													G|||	1	0.000199681	8e-04	0	5008	,	,		15228	0		0	False		,,,				2504	0																0								ENSG00000196557						14	19	17					16																	1256105		2043	4174	6217	CACNA1H	SO:0001630	splice_region_variant	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2604-1G>A	16.37:g.1256105G>A		Somatic	0	32	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	0	100.00	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.V869I	ENST00000348261.5	37	c.2605	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676764	0.67928	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98249	-4.82;-4.82	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.96546	0.8873	N	0.04636	-0.2	0.45452	D	0.998423	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95565	0.8633	10	0.25106	T	0.35	.	15.1886	0.73025	0.0:0.0:1.0:0.0	.	869;869	O95180-2;O95180	.;CAC1H_HUMAN	I	869	ENSP00000334198:V869I;ENSP00000351401:V869I	ENSP00000334198:V869I	V	+	1	0	CACNA1H	1196106	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	4.183000	0.58317	2.050000	0.60909	0.561000	0.74099	GTC	-	pfam_Ion_trans_dom		0.701	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	G	NM_001005407	-	Missense_Mutation	1256105	1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1256105	G	A	1256105	5	1	127	1	0	0	0	0	0	0	1	0	2547	1159	40	1	2647	1	CACNA1H	16	1256105	Splice_Site	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		1256105	89098648	19	9503											
DNAH3	55567	genome.wustl.edu	37	chr16	21049179	21049179	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcattctcctctggatacttGagcttcaggtttcctgcggc	9	12	4	1			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr16:21049179G>T	ENST00000261383.3	-	34	4853	c.4854C>A	c.(4852-4854)ctC>ctA	p.L1618L	DNAH3_ENST00000415178.1_Silent_p.L1618L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1618					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)			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)		CTGGATACTTGAGCTTCAGGT	0.517																																																	0								ENSG00000158486						131	105	114					16																	21049179		2201	4300	6501	DNAH3	SO:0001819	synonymous_variant	0			-	HGNC	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.4854C>A	16.37:g.21049179G>T		Somatic	0	65	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.L1618	ENST00000261383.3	37	c.4854	CCDS10594.1	16																																																																																			-	NULL		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	G	NM_017539	-		21049179	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	SNP	0.990	T	T	21049179	G	T	21049179	2	4	127	1	0	0	0	0	0	0	0	1	4605	1277	45	3		3	DNAH3	16	21049179	Silent	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09	19793074	21049179	69305574	20	9504											
TP53	7157	genome.wustl.edu	37	chr17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc	10	17	1	0			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000420246.2_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278H	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(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)	GTCTCTCCCAGGACAGGCACA	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	GRCh37	CM961376	TP53	M		ENSG00000141510						72	63	66					17																	7577105		2203	4300	6503	TP53	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;	-	HGNC	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.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His	Somatic	0	29	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	1	97.37	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278H	ENST00000269305.4	37	c.833	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	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	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7577105	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577105	G	T	7577105	3	4	127	1	0	0	0	0	1	0	0	0	16388	1000	35	3	453	3	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		7577105	73618105	21	9505											
MYO15A	51168	genome.wustl.edu	37	chr17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacggagtccactacaccGtcccctatgccgaaggcgtc	9	17	0	0			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:18023246G>A	ENST00000205890.5	+	2	1470	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	378					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597																																																	0								ENSG00000091536						82	90	88					17																	18023246		1960	4142	6102	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1132G>A	17.37:g.18023246G>A	ENSP00000205890:p.Val378Ile	Somatic	0	83	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	B4DFC7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.V378I	ENST00000205890.5	37	c.1132	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131211	0.00338	.	.	ENSG00000091536	ENST00000205890	D	0.88975	-2.45	4.42	-3.11	0.05299	.	.	.	.	.	T	0.72526	0.3471	N	0.11560	0.145	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.57556	-0.7791	9	0.20519	T	0.43	.	5.8961	0.18939	0.2623:0.4007:0.337:0.0	.	378	Q9UKN7	MYO15_HUMAN	I	378	ENSP00000205890:V378I	ENSP00000205890:V378I	V	+	1	0	MYO15A	17963971	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	-0.795000	0.04580	-0.403000	0.07622	0.561000	0.74099	GTC	-	NULL		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	G	NM_016239	-		18023246	1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18023246	G	A	18023246	3	1	127	1	0	0	0	0	1	0	0	0	10065	1145	40	1	1134	1	MYO15A	17	18023246	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09	10446141	18023246	63171964	22	9506											
NF1	4763	genome.wustl.edu	37	chr17	29527470	29527471	+	Frame_Shift_Ins	INS	-	-	T													ggacagtctacgaaaagctcINSttgctggccatggaggaagt							TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:29527470_29527471insT	ENST00000358273.4	+	9	1302_1303	c.919_920insT	c.(919-921)cttfs	p.L307fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.L307fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.L307fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	307					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.?(6)	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)		ACGAAAAGCTCTTGCTGGCCAT	0.371			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)						ENSG00000196712																																			NF1	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		HGNC		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.921dupT	17.37:g.29527472_29527472dupT	ENSP00000351015:p.Leu307fs	Somatic	0	120	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	11	85.14	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.A308fs	ENST00000358273.4	37	c.919_920	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.371	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	-	NM_000267			29527471	1	no_errors	ENST00000358273	ensembl	human	known	74_37	frame_shift_ins	INS	0.968:0.970	T	T	29527471	-	T	29527470	7	5	127	1	0	1	1	0	0	0	0	0	10358	913	32	0	953	0	NF1	17	29527470	Frame_Shift_Ins	INS	-	TCGA-DX-AB30-01A-11D-A38Z-09	11504224	29527470	51667740	23	9507											
TMEM132E	124842	genome.wustl.edu	37	chr17	32957125	32957125	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatggcctcgtcctggacatCtccgccctagtggaatgcga	11	13	1	0			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr17:32957125C>T	ENST00000321639.5	+	6	1495	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	389						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCCTGGACATCTCCGCCCTAG	0.577																																																	0								ENSG00000181291						113	79	90					17																	32957125		2203	4300	6503	TMEM132E	SO:0001819	synonymous_variant	0			-	HGNC	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1167C>T	17.37:g.32957125C>T		Somatic	0	39	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q8WUF4|Q8WVA5	Silent	SNP							NULL	p.I389	ENST00000321639.5	37	c.1167	CCDS11283.1	17																																																																																			-	NULL		0.577	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	protein_coding	OTTHUMT00000256440.2	C	NM_207313	-		32957125	1	no_errors	ENST00000321639	ensembl	human	known	74_37	silent	SNP	1.000	T	T	32957125	C	T	32957125	2	4	127	1	0	0	0	0	0	0	0	1	16055	903	32	2		2	TMEM132E	17	32957125	Silent	SNP	C	TCGA-DX-AB30-01A-11D-A38Z-09	3429655	32957125	48238085	24	9508											
GRP	2922	genome.wustl.edu	37	chr18	56892844	56892844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaggaatttgctgggtcTcatagaagcaaaggagaaca	12	6	1	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr18:56892844T>C	ENST00000256857.2	+	2	358	c.260T>C	c.(259-261)cTc>cCc	p.L87P	GRP_ENST00000529320.2_Missense_Mutation_p.L87P|GRP_ENST00000420468.2_Missense_Mutation_p.L87P	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	87					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTGCTGGGTCTCATAGAAGCA	0.522																																																	0								ENSG00000134443						109	104	106					18																	56892844		2203	4300	6503	GRP	SO:0001583	missense	0			-	HGNC		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.260T>C	18.37:g.56892844T>C	ENSP00000256857:p.Leu87Pro	Somatic	0	57	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	2	95.74	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP							pfam_Bombesin	p.L87P	ENST00000256857.2	37	c.260	CCDS11971.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.59|19.59	3.856123|3.856123	0.71834|0.71834	.|.	.|.	ENSG00000134443|ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468|ENST00000456142	T;T;T|.	0.44083|.	0.93;0.98;0.94|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.215293|.	0.28021|.	N|.	0.016920|.	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.55990|0.55990	1.75|1.75	0.28068|0.28068	N|N	0.932685|0.932685	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.81914|.	0.974;0.972;0.995|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.87932|.	D|.	0|.	-8.04|-8.04	12.2639|12.2639	0.54665|0.54665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	87;87;87|.	P07492-3;P07492;P07492-2|.	.;GRP_HUMAN;.|.	P|P	87|43	ENSP00000256857:L87P;ENSP00000434101:L87P;ENSP00000389696:L87P|.	ENSP00000256857:L87P|.	L|S	+|+	2|1	0|0	GRP|GRP	55043824|55043824	0.276000|0.276000	0.24211|0.24211	0.122000|0.122000	0.21767|0.21767	0.636000|0.636000	0.38137|0.38137	4.135000|4.135000	0.57997|0.57997	1.893000|1.893000	0.54813|0.54813	0.533000|0.533000	0.62120|0.62120	CTC|TCA	-	NULL		0.522	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	protein_coding	OTTHUMT00000256131.2	T	NM_002091	-		56892844	1	no_errors	ENST00000256857	ensembl	human	known	74_37	missense	SNP	0.088	C	C	56892844	T	C	56892844	3	2	127	1	0	0	0	0	1	0	0	0	6807	1551	54	5	266	5	GRP	18	56892844	Missense_Mutation	SNP	T	TCGA-DX-AB30-01A-11D-A38Z-09		56892844	21184404	25	9509											
EHD2	30846	genome.wustl.edu	37	chr19	48220051	48220051	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgacggcaagcccatggTgctggtggccggccagtaca	14	13	0	0			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr19:48220051T>G	ENST00000263277.3	+	2	433	c.182T>G	c.(181-183)gTg>gGg	p.V61G	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	61	Dynamin-type G.				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)		AAGCCCATGGTGCTGGTGGCC	0.682																																																	0								ENSG00000024422						39	32	34					19																	48220051		2203	4300	6503	EHD2	SO:0001583	missense	0			-	HGNC	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.182T>G	19.37:g.48220051T>G	ENSP00000263277:p.Val61Gly	Somatic	0	83	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	6	92.00	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.V61G	ENST00000263277.3	37	c.182	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093018	0.76756	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	D	0.97256	-4.31	3.75	3.75	0.43078	Dynamin, GTPase domain (1);	0.000000	0.64402	D	0.000001	D	0.98648	0.9547	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99032	1.0821	10	0.87932	D	0	-41.4715	10.7135	0.45997	0.0:0.0:0.0:1.0	.	61	Q9NZN4	EHD2_HUMAN	G	61	ENSP00000263277:V61G	ENSP00000263277:V61G	V	+	2	0	EHD2	52911863	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.706000	0.84615	1.716000	0.51395	0.334000	0.21626	GTG	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase		0.682	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	protein_coding	OTTHUMT00000465851.1	T		-		48220051	1	no_errors	ENST00000263277	ensembl	human	known	74_37	missense	SNP	1.000	G	G	48220051	T	G	48220051	3	3	127	1	0	0	0	0	1	0	0	0	4980	1696	59	5	184	5	EHD2	19	48220051	Missense_Mutation	SNP	T	TCGA-DX-AB30-01A-11D-A38Z-09		48220051	10908932	26	9510											
ZNF610	162963	genome.wustl.edu	37	chr19	52857573	52857573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcccttgattctgcaaaGtcaagttaaaatagtaaaaa	7	6	2	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr19:52857573G>A	ENST00000403906.3	+	5	716	c.260G>A	c.(259-261)aGt>aAt	p.S87N	ZNF610_ENST00000321287.8_Missense_Mutation_p.S87N|ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000327920.8_Missense_Mutation_p.S87N	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	87	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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTCTGCAAAGTCAAGTTAAA	0.388																																																	0								ENSG00000167554						83	86	85					19																	52857573		2203	4300	6503	ZNF610	SO:0001583	missense	0			-	HGNC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.260G>A	19.37:g.52857573G>A	ENSP00000383922:p.Ser87Asn	Somatic	0	62	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S87N	ENST00000403906.3	37	c.260	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528902	0.13127	.	.	ENSG00000167554	ENST00000403906;ENST00000327920	T;T	0.05382	3.45;3.45	1.21	1.21	0.21127	Krueppel-associated box (1);	.	.	.	.	T	0.04227	0.0117	L	0.45137	1.4	0.09310	N	1	P	0.45531	0.86	B	0.33042	0.157	T	0.40327	-0.9569	9	0.22109	T	0.4	.	5.813	0.18477	0.0:0.0:1.0:0.0	.	87	Q8N9Z0	ZN610_HUMAN	N	87	ENSP00000383922:S87N;ENSP00000327597:S87N	ENSP00000327597:S87N	S	+	2	0	ZNF610	57549385	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.079000	0.11357	0.959000	0.37980	0.514000	0.50259	AGT	-	pfscan_Krueppel-associated_box		0.388	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	protein_coding	OTTHUMT00000462880.1	G	NM_173530	-		52857573	1	no_errors	ENST00000321287	ensembl	human	known	74_37	missense	SNP	0.002	A	A	52857573	G	A	52857573	3	1	127	1	0	0	0	0	1	0	0	0	18043	1029	36	2	270	2	ZNF610	19	52857573	Missense_Mutation	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09	4637522	52857573	6271410	27	9511											
HUNK	30811	genome.wustl.edu	37	chr21	33371479	33371479	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctttgacatggccgatggGgtcaagacccagtgctaact	12	11	1	2			TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr21:33371479G>T	ENST00000270112.2	+	11	2487	c.2127G>T	c.(2125-2127)ggG>ggT	p.G709G		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	709					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGCCGATGGGGTCAAGACCC	0.587																																																	0								ENSG00000142149						63	68	66					21																	33371479		2203	4298	6501	HUNK	SO:0001819	synonymous_variant	0			-	HGNC	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2127G>T	21.37:g.33371479G>T		Somatic	0	62	0		0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	7	86.67		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G709	ENST00000270112.2	37	c.2127	CCDS13610.1	21																																																																																			-	NULL		0.587	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	protein_coding	OTTHUMT00000192782.1	G	NM_014586	-		33371479	1	no_errors	ENST00000270112	ensembl	human	known	74_37	silent	SNP	0.048	T	T	33371479	G	T	33371479	2	4	127	1	0	0	0	0	0	0	0	1	7460	1219	43	3		3	HUNK	21	33371479	Silent	SNP	G	TCGA-DX-AB30-01A-11D-A38Z-09		33371479	14758416	28	9512											
RNF215	200312	genome.wustl.edu	37	chr22	30783220	30783221	+	In_Frame_Ins	INS	-	-	GCAGCAGCA													cagccacagcggcagcagggINSgcagcagcagcagcagcgga							TCGA-DX-AB30-01A-11D-A38Z-09	TCGA-DX-AB30-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4dc9363-c6af-4262-99fd-ad58bf716936	c3be8a1b-e675-4781-b908-2ca544764caa	g.chr22:30783220_30783221insGCAGCAGCA	ENST00000382363.3	-	1	156_157	c.82_83insTGCTGCTGC	c.(82-84)ccc>cTGCTGCTGCcc	p.27_28insLLL		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	27						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						cggcagcaggggcagcagcagc	0.851											OREG0026458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000099999																																			RNF215	SO:0001652	inframe_insertion	0				HGNC		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.74_82dupTGCTGCTGC	22.37:g.30783221_30783229dupGCAGCAGCA	ENSP00000371800:p.Leu25_Leu27dup	Somatic				819	0.642615208326182				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NEL1	In_Frame_Ins	INS							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.28in_frame_insLLL	ENST00000382363.3	37	c.83_82	CCDS33633.1	22																																																																																			-	NULL		0.851	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF215	protein_coding	OTTHUMT00000320960.1	-	NM_001017981			30783221	-1	no_errors	ENST00000382363	ensembl	human	known	74_37	in_frame_ins	INS	0.968:0.994	GCAGCAGCA	GCAGCAGCA	30783221	-	GCAGCAGCA	30783220	7	5	127	1	0	1	1	0	0	0	0	0	13487	1232	43	0	1086	0	RNF215	22	30783220	In_Frame_Ins	INS	-	TCGA-DX-AB30-01A-11D-A38Z-09		30783220	20521346	29	9513											
ATAD3B	83858	genome.wustl.edu	37	chr1	1417600	1417600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggcgcgcgccaaggcCgagcgggagaatgcagacat	17	13	0	2	rs544884479	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:1417600C>T	ENST00000308647.7	+	6	713	c.597C>T	c.(595-597)gcC>gcT	p.A199A	ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.A31A	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	199						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCCAAGGCCGAGCGGGAGA	0.667																																																	0								ENSG00000160072						30	34	33					1																	1417600		2202	4295	6497	ATAD3B	SO:0001819	synonymous_variant	0			-	HGNC	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.597C>T	1.37:g.1417600C>T		Somatic	0	84	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	27	53.45	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP							pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A199	ENST00000308647.7	37	c.597	CCDS30.1	1																																																																																			-	pfam_DUF3523		0.667	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	protein_coding	OTTHUMT00000001369.2	C	NM_031921	-		1417600	1	no_errors	ENST00000308647	ensembl	human	known	74_37	silent	SNP	0.931	T	T	1417600	C	T	1417600	2	4	128	1	0	0	0	0	0	0	0	1	1074	639	23	1		1	ATAD3B	1	1417600	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		1417600	247833021	1	9514											
C1orf86	199990	genome.wustl.edu	37	chr1	2125187	2125187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggatcaggtgccgggcGctggggcagggacctggcgg	22	10	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:2125187G>A	ENST00000378546.4	-	3	385	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	C1orf86_ENST00000378545.3_Missense_Mutation_p.R224C|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	121					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGTGCCGGGCGCTGGGGCAGG	0.726																																																	0								ENSG00000162585						13	18	16					1																	2125187		2144	4263	6407	C1orf86	SO:0001583	missense	0			-	HGNC	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.361C>T	1.37:g.2125187G>A	ENSP00000367808:p.Arg121Cys	Somatic	0	51	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	28	34.88	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP							NULL	p.R224C	ENST00000378546.4	37	c.670	CCDS38.2	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095047	0.36952	.	.	ENSG00000162585	ENST00000400918;ENST00000378546;ENST00000378545	T;T;T	0.45668	0.96;0.97;0.89	3.6	-6.06	0.02165	.	1.682180	0.03744	N	0.255451	T	0.24967	0.0606	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	9	0.34782	T	0.22	-0.1747	5.7423	0.18100	0.4582:0.1443:0.3975:0.0	.	121	Q6NZ36	CA086_HUMAN	C	121;121;224	ENSP00000383709:R121C;ENSP00000367808:R121C;ENSP00000367807:R224C	ENSP00000367807:R224C	R	-	1	0	C1orf86	2115047	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.380000	0.02551	-1.283000	0.02393	0.561000	0.74099	CGC	-	NULL		0.726	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf86	protein_coding	OTTHUMT00000316541.1	G	NM_182533	-		2125187	-1	no_errors	ENST00000378545	ensembl	human	known	74_37	missense	SNP	0.000	A	A	2125187	G	A	2125187	3	1	128	1	0	0	0	0	1	0	0	0	2065	1087	38	1	429	1	C1orf86	1	2125187	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	707587	2125187	247125434	2	9515											
CA6	765	genome.wustl.edu	37	chr1	9005969	9005969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggccctggtgcttctgctGtccctgttcctgctgggtgg	15	12	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:9005969G>T	ENST00000377443.2	+	1	28	c.24G>T	c.(22-24)ctG>ctT	p.L8L	CA6_ENST00000377442.2_Silent_p.L8L|CA6_ENST00000480186.3_Silent_p.L8L|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Silent_p.L8L	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	8					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGCTTCTGCTGTCCCTGTTCC	0.537																																																	0								ENSG00000131686						87	73	78					1																	9005969		2203	4300	6503	CA6	SO:0001819	synonymous_variant	0			-	HGNC	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.24G>T	1.37:g.9005969G>T		Somatic	0	49	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L8	ENST00000377443.2	37	c.24	CCDS30578.1	1																																																																																			-	NULL		0.537	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	protein_coding	OTTHUMT00000004911.1	G		-		9005969	1	no_errors	ENST00000377443	ensembl	human	known	74_37	silent	SNP	0.055	T	T	9005969	G	T	9005969	2	4	128	1	0	0	0	0	0	0	0	1	2523	1364	48	3		3	CA6	1	9005969	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	6880782	9005969	240244652	3	9516											
CASZ1	54897	genome.wustl.edu	37	chr1	10703232	10703232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctgggaggggggcacGcggtcgaagttcttccccag	15	13	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:10703232G>A	ENST00000377022.3	-	19	4322	c.4005C>T	c.(4003-4005)cgC>cgT	p.R1335R	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1335					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)		AGGGGGGCACGCGGTCGAAGT	0.662																																																	0								ENSG00000130940						43	50	48					1																	10703232		2078	4200	6278	CASZ1	SO:0001819	synonymous_variant	0			-	HGNC	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.4005C>T	1.37:g.10703232G>A		Somatic	0	106	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1335	ENST00000377022.3	37	c.4005	CCDS41246.1	1																																																																																			-	NULL		0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	G	NM_017766	-		10703232	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	SNP	0.107	A	A	10703232	G	A	10703232	2	1	128	1	0	0	0	0	0	0	0	1	2687	1074	38	1		1	CASZ1	1	10703232	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1697263	10703232	238547389	4	9517											
VPS13D	55187	genome.wustl.edu	37	chr1	12568965	12568965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtccatgtgaaatctgagGtccttgctgtcaagttgtca	11	8	3	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:12568965G>T	ENST00000358136.3	+	70	13184	c.13054G>T	c.(13054-13056)Gtc>Ttc	p.V4352F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543710.1_Missense_Mutation_p.V156F|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4327F|VPS13D_ENST00000471923.1_Missense_Mutation_p.V8F|VPS13D_ENST00000543766.1_Missense_Mutation_p.V350F|SNORA59A_ENST00000459326.1_RNA	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)		GAAATCTGAGGTCCTTGCTGT	0.507																																																	0								ENSG00000048707						131	129	130					1																	12568965		2203	4300	6503	VPS13D	SO:0001583	missense	0			-	HGNC	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.13054G>T	1.37:g.12568965G>T	ENSP00000350854:p.Val4352Phe	Somatic	0	54	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V4352F	ENST00000358136.3	37	c.13054	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.803613|2.803613	0.50315|0.50315	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710	.|T;T;T	.|0.76839	.|0.68;0.68;-1.05	5.42|5.42	4.47|4.47	0.54385|0.54385	.|.	.|0.544313	.|0.20659	.|N	.|0.088046	T|T	0.64505|0.64505	0.2604|0.2604	N|N	0.08118|0.08118	0|0	0.35607|0.35607	D|D	0.808312|0.808312	.|B;B;B	.|0.24618	.|0.107;0.072;0.043	.|B;B;B	.|0.31245	.|0.126;0.071;0.032	T|T	0.70769|0.70769	-0.4782|-0.4782	5|10	.|0.56958	.|D	.|0.05	.|.	16.1739|16.1739	0.81840|0.81840	0.0:0.133:0.867:0.0|0.0:0.133:0.867:0.0	.|.	.|350;4327;4351	.|F5GX56;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	S|F	3173|4327;4352;350;156	.|ENSP00000348666:V4327F;ENSP00000350854:V4352F;ENSP00000441122:V350F	.|ENSP00000348666:V4327F	R|V	+|+	3|1	2|0	VPS13D|VPS13D	12491552|12491552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.782000|0.782000	0.44232|0.44232	2.919000|2.919000	0.48836|0.48836	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	AGG|GTC	-	NULL		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	G	NM_015378	-		12568965	1	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12568965	G	T	12568965	3	4	128	1	0	0	0	0	1	0	0	0	17199	1261	44	3	13328	3	VPS13D	1	12568965	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1865733	12568965	236681656	5	9518											
PRAMEF12	390999	genome.wustl.edu	37	chr1	12835688	12835688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcttttacccacaggcGgtggaaacttcaagtgttgg	10	10	2	0	rs369283541		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:12835688G>A	ENST00000357726.4	+	2	317	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	97					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(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCACAGGCGGTGGAAACTT	0.517																																																	0								ENSG00000116726	G	GLN/ARG	1,4321		0,1,2160	142	163	156		290	-0.5	0	1		156	0,8572		0,0,4286	no	missense	PRAMEF12	NM_001080830.1	43	0,1,6446	AA,AG,GG		0.0,0.0231,0.0078	benign	97/484	12835688	1,12893	2161	4286	6447	PRAMEF12	SO:0001583	missense	0			-	HGNC		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.290G>A	1.37:g.12835688G>A	ENSP00000350358:p.Arg97Gln	Somatic	0	102	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	75	33.04		Missense_Mutation	SNP							NULL	p.R97Q	ENST00000357726.4	37	c.290	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311352	0.23821	2.31E-4	0.0	ENSG00000116726	ENST00000357726	T	0.04317	3.65	2.8	-0.464	0.12160	.	0.177429	0.46442	D	0.000282	T	0.06325	0.0163	M	0.81497	2.545	0.09310	N	1	B	0.28400	0.21	B	0.22753	0.041	T	0.21759	-1.0236	10	0.62326	D	0.03	.	4.603	0.12363	0.1467:0.4484:0.4049:0.0	.	97	O95522	PRA12_HUMAN	Q	97	ENSP00000350358:R97Q	ENSP00000350358:R97Q	R	+	2	0	PRAMEF12	12758275	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	-0.048000	0.11944	-0.091000	0.12440	-0.802000	0.03209	CGG	-	NULL		0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	protein_coding	OTTHUMT00000005457.1	G	XM_372760	-		12835688	1	no_errors	ENST00000357726	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12835688	G	A	12835688	3	1	128	1	0	0	0	0	1	0	0	0	12433	1116	39	1	296	1	PRAMEF12	1	12835688	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	266723	12835688	236414933	6	9519											
ALDH4A1	8659	genome.wustl.edu	37	chr1	19209672	19209672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtgaagttaaagggCgagatggccgccacgaagcc	14	9	0	2	rs142063145		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:19209672C>T	ENST00000375341.3	-	7	881	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Silent_p.S208S|MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000538309.1_Silent_p.S148S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.S208S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTAAAGGGCGAGATGGCCG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		16822	0		0	False		,,,				2504	0																0								ENSG00000159423	C	,,	1,4403	2.1+/-5.4	0,1,2201	38	41	40		444,624,624	-10.8	0.2	1	dbSNP_134	40	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,	148/504,208/564,208/564	19209672	1,12999	2202	4298	6500	ALDH4A1	SO:0001819	synonymous_variant	0			-	HGNC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.624G>A	1.37:g.19209672C>T		Somatic	0	94	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	59	17.57	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.S208	ENST00000375341.3	37	c.624	CCDS188.1	1																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	protein_coding	OTTHUMT00000006954.1	C		rs142063145		19209672	-1	no_errors	ENST00000290597	ensembl	human	known	74_37	silent	SNP	0.030	T	T	19209672	C	T	19209672	2	4	128	1	0	0	0	0	0	0	0	1	501	755	27	1		1	ALDH4A1	1	19209672	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	6373984	19209672	230040949	7	9520											
MAP3K6	9064	genome.wustl.edu	37	chr1	27684949	27684949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggggagctggggctgcGgctccttttcccaggctgca	16	12	0	0	rs376352782		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:27684949G>A	ENST00000493901.1	-	21	2976	c.2737C>T	c.(2737-2739)Cgc>Tgc	p.R913C	MAP3K6_ENST00000374040.3_Missense_Mutation_p.R905C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R913C	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	913					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGGCTGCGGCTCCTTTTC	0.667																																																	0								ENSG00000142733	G	CYS/ARG	1,4373		0,1,2186	26	33	31		2737	3.7	1	1		31	0,8564		0,0,4282	no	missense	MAP3K6	NM_004672.3	180	0,1,6468	AA,AG,GG		0.0,0.0229,0.0077	benign	913/1289	27684949	1,12937	2187	4282	6469	MAP3K6	SO:0001583	missense	0			-	HGNC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2737C>T	1.37:g.27684949G>A	ENSP00000419591:p.Arg913Cys	Somatic	0	52	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R913C	ENST00000493901.1	37	c.2737	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844519	0.71488	2.29E-4	0.0	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.25085	1.82;1.82;1.82	4.56	3.65	0.41850	Protein kinase-like domain (1);	.	.	.	.	T	0.18173	0.0436	L	0.27053	0.805	0.44234	D	0.997072	B;B	0.18968	0.032;0.009	B;B	0.16722	0.016;0.002	T	0.04509	-1.0946	9	0.62326	D	0.03	.	9.5427	0.39262	0.0988:0.0:0.9012:0.0	.	905;913	O95382-3;O95382	.;M3K6_HUMAN	C	905;913;636;913	ENSP00000363152:R905C;ENSP00000419591:R913C;ENSP00000350195:R913C	ENSP00000350195:R913C	R	-	1	0	MAP3K6	27557536	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.495000	0.35627	1.154000	0.42482	0.655000	0.94253	CGC	-	superfamily_Kinase-like_dom		0.667	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	protein_coding	OTTHUMT00000013469.2	G	NM_004672	-		27684949	-1	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27684949	G	A	27684949	3	1	128	1	0	0	0	0	1	0	0	0	9256	1116	39	1	1169	1	MAP3K6	1	27684949	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	8475277	27684949	221565672	8	9521											
MAP3K6	9064	genome.wustl.edu	37	chr1	27690425	27690425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcacatcgcggtaggAgagcagcaagttcatgatga	12	10	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:27690425A>G	ENST00000493901.1	-	6	1086	c.847T>C	c.(847-849)Tcc>Ccc	p.S283P	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S275P|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S283P	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	283					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCGCGGTAGGAGAGCAGCAAG	0.607																																																	0								ENSG00000142733						53	51	52					1																	27690425		2203	4300	6503	MAP3K6	SO:0001583	missense	0			-	HGNC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.847T>C	1.37:g.27690425A>G	ENSP00000419591:p.Ser283Pro	Somatic	0	59	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	36	36.84	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S283P	ENST00000493901.1	37	c.847	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751916	0.69533	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.20200	2.09;2.09;2.09	5.29	5.29	0.74685	.	.	.	.	.	T	0.46288	0.1385	M	0.76727	2.345	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	T	0.48055	-0.9068	9	0.87932	D	0	.	13.6049	0.62041	1.0:0.0:0.0:0.0	.	275;283	O95382-3;O95382	.;M3K6_HUMAN	P	275;283;6;283	ENSP00000363152:S275P;ENSP00000419591:S283P;ENSP00000350195:S283P	ENSP00000350195:S283P	S	-	1	0	MAP3K6	27563012	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	6.125000	0.71627	2.228000	0.72767	0.533000	0.62120	TCC	-	NULL		0.607	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	protein_coding	OTTHUMT00000013469.2	A	NM_004672	-		27690425	-1	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	SNP	1.000	G	G	27690425	A	G	27690425	3	3	128	1	0	0	0	0	1	0	0	0	9256	304	11	5	3119	5	MAP3K6	1	27690425	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	5476	27690425	221560196	9	9522											
TMEM39B	55116	genome.wustl.edu	37	chr1	32540672	32540672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccagtgttcgttcccGcaccaggtaaaccacctctc	9	15	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:32540672G>A	ENST00000336294.5	+	2	271	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TMEM39B_ENST00000456834.2_Missense_Mutation_p.R42H|RP11-277A4.4_ENST00000366152.3_RNA|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000427288.1_5'UTR|TMEM39B_ENST00000373634.4_5'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	42	Ser-rich.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTTCGTTCCCGCACCAGGTAA	0.557																																																	0								ENSG00000121775						54	55	55					1																	32540672		692	1591	2283	TMEM39B	SO:0001583	missense	0			-	HGNC	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.125G>A	1.37:g.32540672G>A	ENSP00000338165:p.Arg42His	Somatic	0	63	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP							pfam_Uncharacterised_TMEM39	p.R42H	ENST00000336294.5	37	c.125	CCDS351.2	1	.	.	.	.	.	.	.	.	.	.	G	31	5.091231	0.94149	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000456834	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.76386	-0.2978	9	0.66056	D	0.02	-20.0839	18.2567	0.90022	0.0:0.0:1.0:0.0	.	42	Q9GZU3	TM39B_HUMAN	H	42	.	ENSP00000338165:R42H	R	+	2	0	TMEM39B	32313259	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.700000	0.84556	2.384000	0.81235	0.655000	0.94253	CGC	-	NULL		0.557	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39B	protein_coding	OTTHUMT00000011489.2	G	NM_018056	-		32540672	1	no_errors	ENST00000336294	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32540672	G	A	32540672	3	1	128	1	0	0	0	0	1	0	0	0	16169	1087	38	1	131	1	TMEM39B	1	32540672	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4850247	32540672	216709949	10	9523											
S100PBP	64766	genome.wustl.edu	37	chr1	33292387	33292387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgataaaaatatgccTgacagtgagaaccctacgtc	8	10	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:33292387T>C	ENST00000373475.5	+	3	941	c.687T>C	c.(685-687)ccT>ccC	p.P229P	S100PBP_ENST00000398243.3_Silent_p.P229P|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.P229P	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AAAATATGCCTGACAGTGAGA	0.443																																																	0								ENSG00000116497						72	75	74					1																	33292387		2203	4300	6503	S100PBP	SO:0001819	synonymous_variant	0			-	HGNC	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.687T>C	1.37:g.33292387T>C		Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48		Silent	SNP							NULL	p.P229	ENST00000373475.5	37	c.687	CCDS30666.1	1																																																																																			-	NULL		0.443	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	protein_coding	OTTHUMT00000011266.1	T	NM_022753	-		33292387	1	no_errors	ENST00000373475	ensembl	human	known	74_37	silent	SNP	0.131	C	C	33292387	T	C	33292387	2	2	128	1	0	0	0	0	0	0	0	1	13799	1567	55	5		5	S100PBP	1	33292387	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	751715	33292387	215958234	11	9524											
EPHA10	284656	genome.wustl.edu	37	chr1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-													agaaggttaggacagttcctGgggggtggcagccggaagcc					rs199558258	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:38185238delG	ENST00000373048.4	-	15	2603	c.2604delC	c.(2602-2604)cccfs	p.P868fs	EPHA10_ENST00000330210.7_Frame_Shift_Del_p.P363fs|EPHA10_ENST00000427468.2_Frame_Shift_Del_p.P868fs|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	868	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)				GACAGTTCCTGGGGGGTGGCA	0.617																																																	0								ENSG00000183317						40	46	44					1																	38185238		2036	4195	6231	EPHA10	SO:0001589	frameshift_variant	0				HGNC	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.2604delC	1.37:g.38185238delG	ENSP00000362139:p.Pro868fs	Somatic	0	56	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	35	31.37	A4FU89|J3KPB5|Q6NW42	Frame_Shift_Del	DEL							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R869fs	ENST00000373048.4	37	c.2604	CCDS41305.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	protein_coding	OTTHUMT00000012497.2	G	NM_173641			38185238	-1	no_errors	ENST00000427468	ensembl	human	known	74_37	frame_shift_del	DEL	0.983	-	-	38185238	G	-	38185238	7	5	128	1	0	1	0	1	0	0	0	0	5168	1335	47	0	434	0	EPHA10	1	38185238	Frame_Shift_Del	DEL	G	TCGA-DX-AB32-01A-11D-A417-09	4892851	38185238	211065383	12	9525											
FOXJ3	22887	genome.wustl.edu	37	chr1	42657144	42657144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgtggggaacgctgcGgatgctgcggtaaaccatgc	17	9	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:42657144G>A	ENST00000372572.1	-	11	1492	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	FOXJ3_ENST00000545068.1_Missense_Mutation_p.P394L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P394L|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P360L|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P394L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	394					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGAACGCTGCGGATGCTGCGG	0.592																																																	0								ENSG00000198815						387	296	327					1																	42657144		2203	4300	6503	FOXJ3	SO:0001583	missense	0			-	HGNC	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1181C>T	1.37:g.42657144G>A	ENSP00000361653:p.Pro394Leu	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	38.46	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P394L	ENST00000372572.1	37	c.1181	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446219	0.43429	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.06	3.04	0.35103	.	0.877384	0.09715	N	0.765217	T	0.23249	0.0562	N	0.08118	0	0.54753	D	0.999986	P;B	0.34546	0.456;0.001	B;B	0.25291	0.059;0.001	T	0.07539	-1.0767	10	0.49607	T	0.09	.	5.6914	0.17831	0.1002:0.0:0.7065:0.1933	.	360;394	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	L	394;394;394;360;394;360	ENSP00000361654:P394L;ENSP00000361653:P394L;ENSP00000354620:P394L;ENSP00000354449:P360L;ENSP00000439044:P394L;ENSP00000393408:P360L	ENSP00000354620:P394L	P	-	2	0	FOXJ3	42429731	1.000000	0.71417	0.990000	0.47175	0.871000	0.50021	1.063000	0.30567	1.269000	0.44280	0.484000	0.47621	CCG	-	NULL		0.592	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	protein_coding	OTTHUMT00000018310.1	G	NM_014947	-		42657144	-1	no_errors	ENST00000361346	ensembl	human	known	74_37	missense	SNP	0.981	A	A	42657144	G	A	42657144	3	1	128	1	0	0	0	0	1	0	0	0	6015	1116	39	1	707	1	FOXJ3	1	42657144	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4471906	42657144	206593477	13	9526											
LRP8	7804	genome.wustl.edu	37	chr1	53724100	53724100	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaaggcacaggtattcAcagcctccattaggctggac	12	11	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:53724100A>G	ENST00000306052.6	-	14	2201	c.2100T>C	c.(2098-2100)tgT>tgC	p.C700C	LRP8_ENST00000465675.1_Silent_p.C253C|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.C530C|LRP8_ENST00000354412.3_Silent_p.C571C|LRP8_ENST00000371454.2_Silent_p.C700C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	700					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACAGGTATTCACAGCCTCCAT	0.562																																																	0								ENSG00000157193						130	113	119					1																	53724100		2203	4300	6503	LRP8	SO:0001819	synonymous_variant	0			-	HGNC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2100T>C	1.37:g.53724100A>G		Somatic	0	25	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C700	ENST00000306052.6	37	c.2100	CCDS578.1	1																																																																																			-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom		0.562	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	protein_coding	OTTHUMT00000024699.1	A	NM_004631	-		53724100	-1	no_errors	ENST00000306052	ensembl	human	known	74_37	silent	SNP	1.000	G	G	53724100	A	G	53724100	2	3	128	1	0	0	0	0	0	0	0	1	8965	157	6	5		5	LRP8	1	53724100	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	11066956	53724100	195526521	14	9527											
DAB1	1600	genome.wustl.edu	37	chr1	57480999	57480999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgatgggctgagcccccGgcatcacctgagcgactggt	14	13	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:57480999G>A	ENST00000371231.1	-	13	1134	c.1100C>T	c.(1099-1101)cCg>cTg	p.P367L	DAB1_ENST00000414851.2_Missense_Mutation_p.P316L|DAB1_ENST00000371234.4_Missense_Mutation_p.P334L|DAB1_ENST00000420954.2_Missense_Mutation_p.P332L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.P334L|DAB1_ENST00000439789.2_Missense_Mutation_p.P248L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	367					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGAGCCCCCGGCATCACCTG	0.667																																																	0								ENSG00000173406						35	39	38					1																	57480999		2203	4298	6501	DAB1	SO:0001583	missense	0			-	HGNC	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1100C>T	1.37:g.57480999G>A	ENSP00000360275:p.Pro367Leu	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.P367L	ENST00000371231.1	37	c.1100		1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092809	0.76756	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.54866	0.76;0.76;0.55;0.74;1.59;0.61	5.54	5.54	0.83059	.	0.098967	0.64402	D	0.000001	T	0.52370	0.1730	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.99;0.992;0.966;0.997	P;P;P;P;P	0.54174	0.744;0.734;0.744;0.482;0.744	T	0.45469	-0.9259	10	0.38643	T	0.18	-10.2179	12.275	0.54730	0.0:0.0:0.7212:0.2788	.	316;367;334;248;332	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	L	334;334;334;332;316;248;367	ENSP00000360280:P334L;ENSP00000360278:P334L;ENSP00000395296:P332L;ENSP00000387581:P316L;ENSP00000409328:P248L;ENSP00000360275:P367L	ENSP00000360275:P367L	P	-	2	0	DAB1	57253587	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.568000	0.67385	2.890000	0.99128	0.650000	0.86243	CCG	-	NULL		0.667	DAB1-010	KNOWN	basic	protein_coding	DAB1	protein_coding	OTTHUMT00000027962.1	G	NM_021080	-		57480999	-1	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	SNP	0.991	A	A	57480999	G	A	57480999	3	1	128	1	0	0	0	0	1	0	0	0	4219	1116	39	1	678	1	DAB1	1	57480999	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3756899	57480999	191769622	15	9528											
GBP6	163351	genome.wustl.edu	37	chr1	89835160	89835160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcatctggatgtggtgCgtgccccacccatccaagcc	12	14	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:89835160C>T	ENST00000370456.4	+	3	339	c.246C>T	c.(244-246)tgC>tgT	p.C82C	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	82	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGATGTGGTGCGTGCCCCACC	0.582																																																	0								ENSG00000183347						103	92	96					1																	89835160		2203	4300	6503	GBP6	SO:0001819	synonymous_variant	0			-	HGNC	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.246C>T	1.37:g.89835160C>T		Somatic	0	31	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP							pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.C82	ENST00000370456.4	37	c.246	CCDS723.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.582	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	protein_coding	OTTHUMT00000028001.1	C	NM_198460	-		89835160	1	no_errors	ENST00000370456	ensembl	human	known	74_37	silent	SNP	0.997	T	T	89835160	C	T	89835160	2	4	128	1	0	0	0	0	0	0	0	1	6280	776	27	1		1	GBP6	1	89835160	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	32354161	89835160	159415461	16	9529											
DPYD	1806	genome.wustl.edu	37	chr1	98293695	98293695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctcggagagctcctcGctcaccaagagtcgtgtgct	11	13	2	2	rs141597515		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:98293695G>A	ENST00000370192.3	-	3	308	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DPYD_ENST00000306031.5_Nonsense_Mutation_p.R70*|DPYD_ENST00000423006.2_Nonsense_Mutation_p.R33*	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	70	4Fe-4S ferredoxin-type 1. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGAGCTCCTCGCTCACCAAGA	0.393																																																	0								ENSG00000188641	G	stop/ARG,stop/ARG	0,4406		0,0,2203	104	92	96		208,208	4.8	1	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	DPYD	NM_000110.3,NM_001160301.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	70/1026,70/174	98293695	1,13005	2203	4300	6503	DPYD	SO:0001587	stop_gained	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.208C>T	1.37:g.98293695G>A	ENSP00000359211:p.Arg70*	Somatic	0	43	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP							pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.R70*	ENST00000370192.3	37	c.208	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.284804	0.95517	0.0	1.16E-4	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	.	.	.	5.68	4.75	0.60458	.	0.073205	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-10.178	15.7881	0.78326	0.0:0.0:0.8626:0.1374	.	.	.	.	X	70;33;70	.	ENSP00000307107:R70X	R	-	1	2	DPYD	98066283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.334000	0.59291	1.356000	0.45884	0.563000	0.77884	CGA	-	superfamily_Helical_ferredxn		0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	G	NM_000110	rs141597515		98293695	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	98293695	G	A	98293695	4	1	128	1	0	0	0	0	0	1	0	0	4747	1095	38	1	2996	1	DPYD	1	98293695	Nonsense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	8458535	98293695	150956926	17	9530											
KCNC4	3749	genome.wustl.edu	37	chr1	110765809	110765809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcctggtgcgcatcgTgtgctgccccgacacgctgg	15	13	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:110765809T>C	ENST00000369787.3	+	2	929	c.902T>C	c.(901-903)gTg>gCg	p.V301A	KCNC4_ENST00000413138.3_Missense_Mutation_p.V301A|KCNC4_ENST00000438661.2_Missense_Mutation_p.V301A|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	301					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGCGCATCGTGTGCTGCCCC	0.602																																																	0								ENSG00000116396						304	222	250					1																	110765809		2203	4300	6503	KCNC4	SO:0001583	missense	0			-	HGNC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.902T>C	1.37:g.110765809T>C	ENSP00000358802:p.Val301Ala	Somatic	0	13	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	Q3MIM4|Q5TBI6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.V301A	ENST00000369787.3	37	c.902	CCDS821.1	1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371778	0.42003	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98633	-5.04;-5.04;-5.04	4.62	3.49	0.39957	Ion transport (1);	0.240742	0.42053	D	0.000771	D	0.93900	0.8048	N	0.17723	0.515	0.46260	D	0.998955	B;B;B	0.31752	0.056;0.026;0.338	B;B;B	0.38755	0.069;0.026;0.281	D	0.91614	0.5305	10	0.42905	T	0.14	.	10.1597	0.42844	0.0:0.0803:0.0:0.9197	.	301;301;301	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	A	301	ENSP00000358802:V301A;ENSP00000388029:V301A;ENSP00000393655:V301A	ENSP00000358802:V301A	V	+	2	0	KCNC4	110567332	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.516000	0.53436	0.736000	0.32559	0.260000	0.18958	GTG	-	pfam_Ion_trans_dom,prints_K_chnl		0.602	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	protein_coding	OTTHUMT00000052146.2	T	NM_001039574	-		110765809	1	no_errors	ENST00000369787	ensembl	human	known	74_37	missense	SNP	1.000	C	C	110765809	T	C	110765809	3	2	128	1	0	0	0	0	1	0	0	0	8019	1696	59	5	908	5	KCNC4	1	110765809	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	12472114	110765809	138484812	18	9531											
AMPD1	270	genome.wustl.edu	37	chr1	115226834	115226834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttacctggatagaagctcTcatttgctacccaagcctca	7	12	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:115226834T>C	ENST00000520113.2	-	5	647	c.632A>G	c.(631-633)gAg>gGg	p.E211G	AMPD1_ENST00000353928.6_Missense_Mutation_p.E178G|AMPD1_ENST00000369538.3_Missense_Mutation_p.E207G			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	211					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	ATAGAAGCTCTCATTTGCTAC	0.338																																																	0								ENSG00000116748						107	100	102					1																	115226834		2203	4300	6503	AMPD1	SO:0001583	missense	0			-	HGNC	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.632A>G	1.37:g.115226834T>C	ENSP00000430075:p.Glu211Gly	Somatic	0	121	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	82	22.64	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP							pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.E211G	ENST00000520113.2	37	c.632	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690976	0.48097	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.35236	1.32;1.32;1.32	5.72	5.72	0.89469	.	0.047565	0.85682	D	0.000000	T	0.23572	0.0570	M	0.61703	1.905	0.58432	D	0.999995	P;B	0.40144	0.704;0.004	B;B	0.36719	0.231;0.002	T	0.04307	-1.0961	10	0.27785	T	0.31	-23.1886	16.0011	0.80292	0.0:0.0:0.0:1.0	.	207;178	Q5TF02;P23109	.;AMPD1_HUMAN	G	211;207;178	ENSP00000430075:E211G;ENSP00000358551:E207G;ENSP00000316520:E178G	ENSP00000316520:E178G	E	-	2	0	AMPD1	115028357	1.000000	0.71417	0.854000	0.33618	0.544000	0.35116	7.591000	0.82666	2.177000	0.69029	0.528000	0.53228	GAG	-	pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.338	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	protein_coding	OTTHUMT00000032860.4	T		-		115226834	-1	no_errors	ENST00000520113	ensembl	human	known	74_37	missense	SNP	0.997	C	C	115226834	T	C	115226834	3	2	128	1	0	0	0	0	1	0	0	0	585	1551	54	5	1758	5	AMPD1	1	115226834	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	4461025	115226834	134023787	19	9532											
WDR3	10885	genome.wustl.edu	37	chr1	118499757	118499757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacattcttaaactctttaaCgaattcattcagctgggctc	6	10	4	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:118499757C>T	ENST00000349139.5	+	25	2567	c.2520C>T	c.(2518-2520)aaC>aaT	p.N840N	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	840						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AACTCTTTAACGAATTCATTC	0.388																																																	0								ENSG00000065183						184	185	185					1																	118499757		2203	4300	6503	WDR3	SO:0001819	synonymous_variant	0			-	HGNC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2520C>T	1.37:g.118499757C>T		Somatic	0	65	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	46	30.30		Silent	SNP							pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N840	ENST00000349139.5	37	c.2520	CCDS898.1	1																																																																																			-	pfam_SSU_processome_Utp12		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	protein_coding	OTTHUMT00000033720.2	C	NM_006784	-		118499757	1	no_errors	ENST00000349139	ensembl	human	known	74_37	silent	SNP	0.111	T	T	118499757	C	T	118499757	2	4	128	1	0	0	0	0	0	0	0	1	17292	535	19	1		1	WDR3	1	118499757	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3272923	118499757	130750864	20	9533											
HMGCS2	3158	genome.wustl.edu	37	chr1	120301801	120301801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaacatcgatccaaggcccGcaagtagcactggatggaaa	11	10	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:120301801G>A	ENST00000369406.3	-	4	839	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R222W	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	264					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCCAAGGCCCGCAAGTAGCAC	0.463																																																	0								ENSG00000134240						122	120	121					1																	120301801		2203	4300	6503	HMGCS2	SO:0001583	missense	0			-	HGNC	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.790C>T	1.37:g.120301801G>A	ENSP00000358414:p.Arg264Trp	Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	57	25.00	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP							pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.R264W	ENST00000369406.3	37	c.790	CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336829	0.60963	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.78003	-1.14;-1.14	5.26	4.33	0.51752	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.112215	0.39909	N	0.001229	D	0.83142	0.5190	M	0.82517	2.595	0.40561	D	0.98121	D;D	0.76494	0.994;0.999	P;P	0.62885	0.846;0.908	D	0.85949	0.1463	10	0.72032	D	0.01	-0.5823	11.8542	0.52427	0.0:0.0:0.6821:0.3178	.	222;264	B7Z8R3;P54868	.;HMCS2_HUMAN	W	264;222	ENSP00000358414:R264W;ENSP00000439495:R222W	ENSP00000358414:R264W	R	-	1	2	HMGCS2	120103324	0.997000	0.39634	0.531000	0.27976	0.469000	0.32828	2.596000	0.46205	1.173000	0.42796	0.655000	0.94253	CGG	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk		0.463	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	protein_coding	OTTHUMT00000033469.2	G	NM_005518	-		120301801	-1	no_errors	ENST00000369406	ensembl	human	known	74_37	missense	SNP	0.932	A	A	120301801	G	A	120301801	3	1	128	1	0	0	0	0	1	0	0	0	7235	1086	38	1	760	1	HMGCS2	1	120301801	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1802044	120301801	128948820	21	9534											
ITGA10	8515	genome.wustl.edu	37	chr1	145535815	145535815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcagagggactgtaggcGgcgaggccaagaggcagtct	18	8	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:145535815G>A	ENST00000369304.3	+	16	2178	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R537Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R525Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	668			R -> W (in dbSNP:rs36073645).		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)					GACTGTAGGCGGCGAGGCCAA	0.572																																																	0								ENSG00000143127						98	90	93					1																	145535815		2203	4300	6503	ITGA10	SO:0001583	missense	0			-	HGNC	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.2003G>A	1.37:g.145535815G>A	ENSP00000358310:p.Arg668Gln	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R668Q	ENST00000369304.3	37	c.2003	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992951	0.93167	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.46451	0.87;0.87;0.87	5.44	5.44	0.79542	Integrin alpha-2 (1);	0.074488	0.49916	D	0.000134	T	0.46756	0.1409	L	0.41492	1.28	0.49582	D	0.999806	D;D;D;D	0.89917	1.0;0.986;1.0;1.0	D;P;D;D	0.87578	0.994;0.746;0.998;0.998	T	0.14035	-1.0487	10	0.29301	T	0.29	.	16.807	0.85708	0.0:0.0:1.0:0.0	.	634;537;525;668	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	668;634;525;537	ENSP00000358310:R668Q;ENSP00000439894:R525Q;ENSP00000440011:R537Q	ENSP00000358310:R668Q	R	+	2	0	ITGA10	144247172	0.991000	0.36638	0.653000	0.29593	0.727000	0.41649	7.702000	0.84576	2.828000	0.97474	0.655000	0.94253	CGG	-	pfam_Integrin_alpha-2		0.572	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	G	NM_003637	-		145535815	1	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	SNP	0.696	A	A	145535815	G	A	145535815	3	1	128	1	0	0	0	0	1	0	0	0	7875	1116	39	1	2065	1	ITGA10	1	145535815	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	25234014	145535815	103714806	22	9535											
ZNF687	57592	genome.wustl.edu	37	chr1	151259529	151259529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccctgccagtgcctcgccTcccccagttgctggggtgcc	11	18	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:151259529T>C	ENST00000368879.2	+	2	860	c.762T>C	c.(760-762)ccT>ccC	p.P254P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	254	Pro-rich.				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)			GTGCCTCGCCTCCCCCAGTTG	0.632																																																	0								ENSG00000143373						64	71	68					1																	151259529		2203	4300	6503	ZNF687	SO:0001819	synonymous_variant	0			-	HGNC		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.762T>C	1.37:g.151259529T>C		Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P254	ENST00000368879.2	37	c.762		1																																																																																			-	NULL		0.632	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		T	NM_020832	-		151259529	1	no_errors	ENST00000324048	ensembl	human	known	74_37	silent	SNP	0.003	C	C	151259529	T	C	151259529	2	2	128	1	0	0	0	0	0	0	0	1	18099	1538	54	5		5	ZNF687	1	151259529	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	5723714	151259529	97991092	23	9536											
RPTN	126638	genome.wustl.edu	37	chr1	152129217	152129217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcctctgtctgtgttGtctgcctgtgtttcctggga	12	11	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:152129217G>T	ENST00000316073.3	-	3	422	c.358C>A	c.(358-360)Caa>Aaa	p.Q120K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	120	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTGTTGTCTGCCTGTG	0.522																																																	0								ENSG00000215853						497	409	436					1																	152129217		1568	3582	5150	RPTN	SO:0001583	missense	0			-	HGNC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.358C>A	1.37:g.152129217G>T	ENSP00000317895:p.Gln120Lys	Somatic	0	95	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	76	20.83	B7ZBZ3	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q120K	ENST00000316073.3	37	c.358	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479513	0.44044	.	.	ENSG00000215853	ENST00000316073	T	0.11821	2.74	4.77	3.83	0.44106	.	.	.	.	.	T	0.04543	0.0124	M	0.67953	2.075	0.09310	N	1	P	0.44734	0.842	B	0.28849	0.095	T	0.27434	-1.0074	9	0.25751	T	0.34	-2.6422	10.6398	0.45586	0.0:0.1944:0.8056:0.0	.	120	Q6XPR3	RPTN_HUMAN	K	120	ENSP00000317895:Q120K	ENSP00000317895:Q120K	Q	-	1	0	RPTN	150395841	0.319000	0.24607	0.340000	0.25575	0.072000	0.16883	0.729000	0.26028	1.180000	0.42898	0.542000	0.68232	CAA	-	NULL		0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	protein_coding	OTTHUMT00000333867.1	G	XM_371312	-		152129217	-1	no_errors	ENST00000316073	ensembl	human	known	74_37	missense	SNP	0.192	T	T	152129217	G	T	152129217	3	4	128	1	0	0	0	0	1	0	0	0	13672	1386	48	3	2000	3	RPTN	1	152129217	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	869688	152129217	97121404	24	9537											
C1orf43	25912	genome.wustl.edu	37	chr1	154179927	154179927	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaagagtccttcagctcCgtcacagagtactctccaat	8	14	3	2	rs375042634		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:154179927C>T	ENST00000368521.5	-	0	962				C1orf43_ENST00000362076.4_3'UTR|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_3'UTR|C1orf43_ENST00000350592.3_3'UTR|C1orf189_ENST00000368525.3_5'Flank	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43							integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCTTCAGCTCCGTCACAGAGT	0.517																																																	0								ENSG00000143612	C	,,	2,4404	4.2+/-10.8	0,2,2201	121	124	123		,,	-3	0	1		123	0,8600		0,0,4300	no	utr-3,utr-3,utr-3	C1orf43	NM_001098616.1,NM_015449.2,NM_138740.2	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	,,	154179927	2,13004	2203	4300	6503	C1orf43	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.*2G>A	1.37:g.154179927C>T		Somatic	0	62	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	RNA	SNP							-	NULL	ENST00000368521.5	37	NULL	CCDS41404.1	1																																																																																			-	-		0.517	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	protein_coding	OTTHUMT00000087664.2	C	NM_015449	-		154179927	-1	no_errors	ENST00000483282	ensembl	human	known	74_37	rna	SNP	0.001	T	T	154179927	C	T	154179927	1	4	128	0	1	0	0	0	0	0	0	0	2042	667	23	1		1	C1orf43	1	154179927	3'UTR	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2050710	154179927	95070694	25	9538											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155931509	155931509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgtggatgagtttgcGcctcagaagttcctctcggc	12	12	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:155931509G>A	ENST00000361247.4	-	11	1510	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R516C|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R472C|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R443C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R470C|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R443C	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	471					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)			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)					ATGAGTTTGCGCCTCAGAAGT	0.602																																					Melanoma(178;35 2768 6610 28839)												0								ENSG00000116584						68	66	67					1																	155931509		2203	4300	6503	ARHGEF2	SO:0001583	missense	0			-	HGNC	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.1411C>T	1.37:g.155931509G>A	ENSP00000354837:p.Arg471Cys	Somatic	0	34	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R472C	ENST00000361247.4	37	c.1414	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722804	0.68959	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	4.95	4.01	0.46588	Pleckstrin homology-type (1);	0.000000	0.44902	D	0.000416	T	0.76499	0.3996	L	0.55481	1.735	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	T	0.79748	-0.1673	10	0.87932	D	0	-19.7999	10.3279	0.43805	0.0:0.0:0.6282:0.3718	.	515;471;470	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	C	443;471;472;443;470	ENSP00000315325:R443C;ENSP00000354837:R471C;ENSP00000357298:R472C;ENSP00000357299:R443C;ENSP00000314787:R470C	ENSP00000314787:R470C	R	-	1	0	ARHGEF2	154198133	0.313000	0.24554	1.000000	0.80357	0.950000	0.60333	0.789000	0.26886	1.378000	0.46305	0.655000	0.94253	CGC	-	NULL		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	protein_coding	OTTHUMT00000046204.2	G	NM_004723	-		155931509	-1	no_errors	ENST00000368315	ensembl	human	known	74_37	missense	SNP	0.992	A	A	155931509	G	A	155931509	3	1	128	1	0	0	0	0	1	0	0	0	903	1087	38	1	1597	1	ARHGEF2	1	155931509	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1751582	155931509	93319112	26	9539											
CCT3	7203	genome.wustl.edu	37	chr1	156280431	156280431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtccaccaaagtacccGtctcaccatttacaccccag	4	17	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:156280431G>A	ENST00000295688.3	-	13	1731	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	CCT3_ENST00000368261.3_Missense_Mutation_p.T439M|CCT3_ENST00000368259.2_Missense_Mutation_p.T446M|CCT3_ENST00000472765.2_Missense_Mutation_p.T439M	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	484					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAAAGTACCCGTCTCACCATT	0.478																																																	0								ENSG00000163468						117	100	106					1																	156280431		2203	4300	6503	CCT3	SO:0001583	missense	0			-	HGNC	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1451C>T	1.37:g.156280431G>A	ENSP00000295688:p.Thr484Met	Somatic	0	83	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	58	28.40	A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.T484M	ENST00000295688.3	37	c.1451	CCDS1140.2	1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.656225	0.67586	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.1	5.1	0.69264	.	0.175419	0.47093	D	0.000256	D	0.82958	0.5150	M	0.92649	3.33	0.44927	D	0.99794	P;P;P	0.50819	0.939;0.746;0.864	B;P;P	0.44447	0.351;0.448;0.45	D	0.87639	0.2521	10	0.87932	D	0	-7.6994	13.9148	0.63890	0.0:0.0:1.0:0.0	.	446;483;484	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	M	484;446;439;439	ENSP00000295688:T484M;ENSP00000357242:T446M;ENSP00000357244:T439M;ENSP00000431543:T439M	ENSP00000295688:T484M	T	-	2	0	CCT3	154547055	1.000000	0.71417	0.935000	0.37517	0.971000	0.66376	3.954000	0.56708	2.653000	0.90120	0.552000	0.68991	ACG	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma		0.478	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	protein_coding	OTTHUMT00000060602.3	G	NM_005998	-		156280431	-1	no_errors	ENST00000295688	ensembl	human	known	74_37	missense	SNP	0.975	A	A	156280431	G	A	156280431	3	1	128	1	0	0	0	0	1	0	0	0	2956	1145	40	1	194	1	CCT3	1	156280431	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	348922	156280431	92970190	27	9540											
SPTA1	6708	genome.wustl.edu	37	chr1	158644426	158644426	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcttctcgttcatccaGcctgagagttcatcaaagtc	8	12	5	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:158644426G>T	ENST00000368147.4	-	9	1332	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	384					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGTTCATCCAGCCTGAGAGTT	0.468																																																	0								ENSG00000163554						165	154	157					1																	158644426		1972	4171	6143	SPTA1	SO:0001819	synonymous_variant	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1152C>A	1.37:g.158644426G>T		Somatic	0	38	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.G384	ENST00000368147.4	37	c.1152	CCDS41423.1	1																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	G	NM_003126	-		158644426	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	SNP	1.000	T	T	158644426	G	T	158644426	2	4	128	1	0	0	0	0	0	0	0	1	15123	958	34	3		3	SPTA1	1	158644426	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2363995	158644426	90606195	28	9541											
OR6N1	128372	genome.wustl.edu	37	chr1	158736114	158736114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggctaaatacctatcgTaggccatagctgtcaggaga	11	8	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:158736114T>C	ENST00000335094.2	-	1	378	c.359A>G	c.(358-360)tAc>tGc	p.Y120C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	120						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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATACCTATCGTAGGCCATAGC	0.507																																																	0								ENSG00000197403						54	56	55					1																	158736114		2203	4300	6503	OR6N1	SO:0001583	missense	0			-	HGNC	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.359A>G	1.37:g.158736114T>C	ENSP00000335535:p.Tyr120Cys	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	Q5VUU8|Q96R35	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y120C	ENST00000335094.2	37	c.359	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857964	0.51376	.	.	ENSG00000197403	ENST00000335094	T	0.01347	4.99	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000780	T	0.05914	0.0154	M	0.86651	2.83	0.34976	D	0.753648	D	0.89917	1.0	D	0.91635	0.999	T	0.01608	-1.1313	10	0.87932	D	0	-11.416	13.9937	0.64382	0.0:0.0:0.0:1.0	.	120	Q8NGY5	OR6N1_HUMAN	C	120	ENSP00000335535:Y120C	ENSP00000335535:Y120C	Y	-	2	0	OR6N1	157002738	0.003000	0.15002	1.000000	0.80357	0.917000	0.54804	0.464000	0.21988	2.119000	0.64992	0.533000	0.62120	TAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	protein_coding	OTTHUMT00000059067.1	T	NM_001005185	-		158736114	-1	no_errors	ENST00000335094	ensembl	human	known	74_37	missense	SNP	1.000	C	C	158736114	T	C	158736114	3	2	128	1	0	0	0	0	1	0	0	0	11208	1638	57	5	582	5	OR6N1	1	158736114	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	91688	158736114	90514507	29	9542											
CD244	51744	genome.wustl.edu	37	chr1	160811420	160811420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaacttttccagatatActggtgacctccaggcagta	9	10	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:160811420A>G	ENST00000368033.3	-	2	415	c.333T>C	c.(331-333)agT>agC	p.S111S	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Silent_p.S111S|CD244_ENST00000368034.4_Silent_p.S111S|CD244_ENST00000322302.7_Silent_p.S111S			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	111	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCCAGATATACTGGTGACCT	0.458																																																	0								ENSG00000122223						62	61	61					1																	160811420		2203	4300	6503	CD244	SO:0001819	synonymous_variant	0			-	HGNC	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.333T>C	1.37:g.160811420A>G		Somatic	0	62	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP							pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom	p.S111	ENST00000368033.3	37	c.333	CCDS53399.1	1																																																																																			-	pfam_NK_rcpt_2B4_Ig_dom		0.458	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	protein_coding	OTTHUMT00000071469.1	A	NM_016382	-		160811420	-1	no_errors	ENST00000368033	ensembl	human	known	74_37	silent	SNP	0.000	G	G	160811420	A	G	160811420	2	3	128	1	0	0	0	0	0	0	0	1	2989	388	14	5		5	CD244	1	160811420	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	2075306	160811420	88439201	30	9543											
DEDD	9191	genome.wustl.edu	37	chr1	161093976	161093976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcaggtcgtggcgagTgatgatgcgcagcagctgca	18	9	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:161093976T>C	ENST00000368006.3	-	3	491	c.277A>G	c.(277-279)Act>Gct	p.T93A	DEDD_ENST00000490843.2_Missense_Mutation_p.T93A|DEDD_ENST00000458050.2_Missense_Mutation_p.T93A|DEDD_ENST00000392188.1_Missense_Mutation_p.T93A|DEDD_ENST00000545495.1_Missense_Mutation_p.T93A|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.T93A	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	93	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCGTGGCGAGTGATGATGCGC	0.572																																																	0								ENSG00000158796						80	74	76					1																	161093976		2203	4300	6503	DEDD	SO:0001583	missense	0			-	HGNC	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.277A>G	1.37:g.161093976T>C	ENSP00000356985:p.Thr93Ala	Somatic	0	28	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	D3DVF5|O60737	Missense_Mutation	SNP							pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.T93A	ENST00000368006.3	37	c.277	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076686	0.55753	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.66	4.51	0.55191	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.45137	1.4	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.79108	0.992;0.98;0.992	T	0.50972	-0.8764	9	0.19147	T	0.46	.	10.3148	0.43729	0.1476:0.0:0.0:0.8524	.	50;93;93	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	A	93;93;93;93;93;93;50	.	ENSP00000356984:T93A	T	-	1	0	DEDD	159360600	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.344000	0.79328	0.953000	0.37825	-0.336000	0.08194	ACT	-	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED		0.572	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	protein_coding	OTTHUMT00000080582.1	T	NM_004216	-		161093976	-1	no_errors	ENST00000368005	ensembl	human	known	74_37	missense	SNP	1.000	C	C	161093976	T	C	161093976	3	2	128	1	0	0	0	0	1	0	0	0	4386	1696	59	5	695	5	DEDD	1	161093976	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	282556	161093976	88156645	31	9544											
RXRG	6258	genome.wustl.edu	37	chr1	165370516	165370516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcaggtgatctgcagcGgggtctccaacatctccatg	13	12	4	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:165370516G>A	ENST00000359842.5	-	10	1678	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GATCTGCAGCGGGGTCTCCAA	0.607																																																	0								ENSG00000143171						85	83	84					1																	165370516		2203	4300	6503	RXRG	SO:0001583	missense	0			-	HGNC	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1376C>T	1.37:g.165370516G>A	ENSP00000352900:p.Pro459Leu	Somatic	0	117	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	62	28.74	A6NIP1|Q6IBU7	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.P459L	ENST00000359842.5	37	c.1376	CCDS1248.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700413	0.88924	.	.	ENSG00000143171	ENST00000359842	D	0.92299	-3.01	4.62	4.62	0.57501	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.95133	0.8257	9	0.87932	D	0	.	16.1865	0.81959	0.0:0.0:1.0:0.0	.	459	P48443	RXRG_HUMAN	L	459	ENSP00000352900:P459L	ENSP00000352900:P459L	P	-	2	0	RXRG	163637140	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.291000	0.96070	2.377000	0.81083	0.555000	0.69702	CCG	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	protein_coding	OTTHUMT00000083794.2	G	NM_006917	-		165370516	-1	no_errors	ENST00000359842	ensembl	human	known	74_37	missense	SNP	1.000	A	A	165370516	G	A	165370516	3	1	128	1	0	0	0	0	1	0	0	0	13773	1116	39	1	19	1	RXRG	1	165370516	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4276540	165370516	83880105	32	9545											
F5	2153	genome.wustl.edu	37	chr1	169524539	169524539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttattttcttaagattcctGgttttctttgggcagttttt	8	5	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:169524539G>T	ENST00000367797.3	-	7	1200	c.999C>A	c.(997-999)acC>acA	p.T333T	F5_ENST00000367796.3_Silent_p.T333T|F5_ENST00000546081.1_Silent_p.T196T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	333					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TAAGATTCCTGGTTTTCTTTG	0.413																																																	0								ENSG00000198734						108	101	103					1																	169524539		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.999C>A	1.37:g.169524539G>T		Somatic	0	43	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	47	26.56	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T333	ENST00000367797.3	37	c.999	CCDS1281.1	1																																																																																			-	NULL		0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	G	NM_000130	-		169524539	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	0.065	T	T	169524539	G	T	169524539	2	4	128	1	0	0	0	0	0	0	0	1	5350	1335	47	3		3	F5	1	169524539	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4154023	169524539	79726082	33	9546											
KIFAP3	22920	genome.wustl.edu	37	chr1	170024465	170024465	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttttgacattcttttcGttctcccaacatggggtccc	6	12	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:170024465G>A	ENST00000361580.2	-	2	372	c.145C>T	c.(145-147)Cga>Tga	p.R49*	KIFAP3_ENST00000538366.1_De_novo_Start_InFrame|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.R9*|KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000490550.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	49					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTCTTTTCGTTCTCCCAAC	0.338																																																	0								ENSG00000075945						91	89	89					1																	170024465		2203	4300	6503	KIFAP3	SO:0001587	stop_gained	0			-	HGNC	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.145C>T	1.37:g.170024465G>A	ENSP00000354560:p.Arg49*	Somatic	0	93	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	80	12.09	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R49*	ENST00000361580.2	37	c.145	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.695692	0.97768	.	.	ENSG00000075945	ENST00000361580;ENST00000367765	.	.	.	5.19	3.29	0.37713	.	0.062125	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.4869	9.7572	0.40510	0.0738:0.0:0.786:0.1402	.	.	.	.	X	49;9	.	.	R	-	1	2	KIFAP3	168291089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.362000	0.59467	0.568000	0.29311	0.591000	0.81541	CGA	-	NULL		0.338	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	protein_coding	OTTHUMT00000087568.1	G	NM_014970	-		170024465	-1	no_errors	ENST00000361580	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	170024465	G	A	170024465	4	1	128	1	0	0	0	0	0	1	0	0	8313	1153	40	1	2309	1	KIFAP3	1	170024465	Nonsense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	499926	170024465	79226156	34	9547											
MR1	3140	genome.wustl.edu	37	chr1	181018220	181018220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatattttcgcctgggcGtttcggatcccatccatggg	12	10	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:181018220G>A	ENST00000367580.5	+	2	105	c.100G>A	c.(100-102)Gtt>Att	p.V34I	MR1_ENST00000367579.3_Missense_Mutation_p.V34I|MR1_ENST00000434571.2_Missense_Mutation_p.V34I|MR1_ENST00000282990.6_Missense_Mutation_p.V34I|MR1_ENST00000438435.2_3'UTR	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	34	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TCGCCTGGGCGTTTCGGATCC	0.517																																					Colon(174;1412 1962 45296 46549 47110)												0								ENSG00000153029						47	48	48					1																	181018220		2203	4299	6502	MR1	SO:0001583	missense	0			-	HGNC	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.100G>A	1.37:g.181018220G>A	ENSP00000356552:p.Val34Ile	Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.V34I	ENST00000367580.5	37	c.100	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664967	0.29604	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;T	0.01005	5.45;5.45;5.45;5.45	4.78	-8.9	0.00782	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	2.214490	0.01953	N	0.042827	T	0.01029	0.0034	L	0.39692	1.235	0.23743	N	0.996966	B;B;B;B;B	0.20780	0.006;0.048;0.006;0.008;0.002	B;B;B;B;B	0.19148	0.004;0.024;0.006;0.01;0.003	T	0.44251	-0.9340	9	0.87932	D	0	.	7.9448	0.29980	0.5072:0.3333:0.1596:0.0	.	34;34;34;34;34	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	I	34	ENSP00000388504:V34I;ENSP00000356552:V34I;ENSP00000282990:V34I;ENSP00000356551:V34I	ENSP00000282990:V34I	V	+	1	0	MR1	179284843	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.877000	0.04197	-1.494000	0.01833	-1.200000	0.01667	GTT	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.517	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	protein_coding	OTTHUMT00000085134.2	G	NM_001531	-		181018220	1	no_errors	ENST00000367580	ensembl	human	known	74_37	missense	SNP	0.000	A	A	181018220	G	A	181018220	3	1	128	1	0	0	0	0	1	0	0	0	9754	1145	40	1	106	1	MR1	1	181018220	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	10993755	181018220	68232401	35	9548											
C1orf21	81563	genome.wustl.edu	37	chr1	184588668	184588668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagggtcgggattactgttCggaagaagaggatatcacat	13	6	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:184588668C>T	ENST00000235307.6	+	6	779	c.344C>T	c.(343-345)tCg>tTg	p.S115L	C1orf21_ENST00000367514.3_3'UTR	NM_030806.3	NP_110433.1	Q9H246	CA021_HUMAN	chromosome 1 open reading frame 21	115										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		GATTACTGTTCGGAAGAAGAG	0.398																																																	0								ENSG00000116667						134	130	132					1																	184588668		2203	4300	6503	C1orf21	SO:0001583	missense	0			-	HGNC	AF312864	CCDS1362.1	1q25	2008-07-18			ENSG00000116667	ENSG00000116667			15494	protein-coding gene	gene with protein product	"proliferation-inducing protein 13"					11318611	Standard	NM_030806		Approved	PIG13	uc001gqv.1	Q9H246	OTTHUMG00000035386	ENST00000235307.6:c.344C>T	1.37:g.184588668C>T	ENSP00000235307:p.Ser115Leu	Somatic	0	62	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	27.69	B2R551	Missense_Mutation	SNP							NULL	p.S115L	ENST00000235307.6	37	c.344	CCDS1362.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831246	0.71258	.	.	ENSG00000116667	ENST00000235307;ENST00000367514	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	L	0.58810	1.83	0.58432	D	0.999998	P	0.47302	0.893	P	0.46510	0.519	T	0.68085	-0.5502	9	0.87932	D	0	.	16.5787	0.84708	0.0:1.0:0.0:0.0	.	115	Q9H246	CA021_HUMAN	L	115;81	.	ENSP00000235307:S115L	S	+	2	0	C1orf21	182855291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.771000	0.62318	2.338000	0.79540	0.655000	0.94253	TCG	-	NULL		0.398	C1orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf21	protein_coding	OTTHUMT00000085784.2	C	NM_030806	-		184588668	1	no_errors	ENST00000235307	ensembl	human	known	74_37	missense	SNP	1.000	T	T	184588668	C	T	184588668	3	4	128	1	0	0	0	0	1	0	0	0	2030	893	31	1	362	1	C1orf21	1	184588668	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3570448	184588668	64661953	36	9549											
HMCN1	83872	genome.wustl.edu	37	chr1	186147733	186147733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaccttgcacggttctccCctgtgagaaacaactatcaa	6	12	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:186147733C>A	ENST00000271588.4	+	104	16358	c.16129C>A	c.(16129-16131)Cct>Act	p.P5377T	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5377					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)			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						ACGGTTCTCCCCTGTGAGAAA	0.453																																																	0								ENSG00000143341						196	191	192					1																	186147733		2203	4300	6503	HMCN1	SO:0001583	missense	0			-	HGNC	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.16129C>A	1.37:g.186147733C>A	ENSP00000271588:p.Pro5377Thr	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P5377T	ENST00000271588.4	37	c.16129	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658068	0.29425	.	.	ENSG00000143341	ENST00000271588	T	0.64618	-0.11	5.77	3.86	0.44501	Growth factor, receptor (1);	0.270868	0.43579	D	0.000548	T	0.49558	0.1564	L	0.40543	1.245	0.80722	D	1	B	0.32573	0.376	B	0.32149	0.141	T	0.46275	-0.9203	10	0.30078	T	0.28	.	10.1092	0.42552	0.0:0.7899:0.1377:0.0724	.	5377	Q96RW7	HMCN1_HUMAN	T	5377	ENSP00000271588:P5377T	ENSP00000271588:P5377T	P	+	1	0	HMCN1	184414356	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.088000	0.41663	1.548000	0.49413	0.655000	0.94253	CCT	-	superfamily_Growth_fac_rcpt_N_dom		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	C	NM_031935	-		186147733	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186147733	C	A	186147733	3	1	128	1	0	0	0	0	1	0	0	0	7222	623	22	3	16543	3	HMCN1	1	186147733	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1559065	186147733	63102888	37	9550											
C1orf27	54953	genome.wustl.edu	37	chr1	186360840	186360840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttaagaatggacttacaCgctgggccaaggaaatagaa	11	7	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:186360840C>T	ENST00000287859.6	+	8	753	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	C1orf27_ENST00000367470.3_Missense_Mutation_p.R210C|C1orf27_ENST00000419367.3_Missense_Mutation_p.R178C|C1orf27_ENST00000432021.3_Missense_Mutation_p.R210C	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	210						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TGGACTTACACGCTGGGCCAA	0.328																																																	0								ENSG00000157181						78	79	79					1																	186360840		1839	4083	5922	C1orf27	SO:0001583	missense	0			-	HGNC	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.628C>T	1.37:g.186360840C>T	ENSP00000287859:p.Arg210Cys	Somatic	0	94	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	90	29.13	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP							NULL	p.R210C	ENST00000287859.6	37	c.628	CCDS53448.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551046	0.65311	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.93	4.93	0.64822	.	0.242240	0.40222	N	0.001144	T	0.60753	0.2293	M	0.65975	2.015	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.95;0.95	T	0.62558	-0.6829	10	0.56958	D	0.05	-26.4955	13.1345	0.59402	0.1602:0.8398:0.0:0.0	.	178;210;210	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	C	210;178;210;210	ENSP00000356440:R210C;ENSP00000395084:R178C;ENSP00000402029:R210C;ENSP00000287859:R210C	ENSP00000287859:R210C	R	+	1	0	C1orf27	184627463	0.596000	0.26866	0.972000	0.41901	0.971000	0.66376	1.101000	0.31037	2.438000	0.82558	0.650000	0.86243	CGC	-	NULL		0.328	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C1orf27	protein_coding	OTTHUMT00000086352.2	C	NM_017847	-		186360840	1	no_errors	ENST00000287859	ensembl	human	known	74_37	missense	SNP	0.944	T	T	186360840	C	T	186360840	3	4	128	1	0	0	0	0	1	0	0	0	2038	536	19	1	654	1	C1orf27	1	186360840	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	213107	186360840	62889781	38	9551											
CFH	3075	genome.wustl.edu	37	chr1	196654365	196654365	+	Frame_Shift_Del	DEL	C	C	-													gatacctgctccgagatgtaCctgtaagttccattcatatc							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:196654365delC	ENST00000359637.2	+	6	832	c.770delC	c.(769-771)accfs	p.T257fs	CFH_ENST00000367429.4_Frame_Shift_Del_p.T321fs|CFH_ENST00000439155.2_Frame_Shift_Del_p.T321fs			P08603	CFAH_HUMAN	complement factor H	321	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCGAGATGTACCTGTAAGTTC	0.358																																																	0								ENSG00000000971						98	89	92					1																	196654365		2203	4300	6503	CFH	SO:0001589	frameshift_variant	0				HGNC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.770delC	1.37:g.196654365delC	ENSP00000352658:p.Thr257fs	Somatic	0	76	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Frame_Shift_Del	DEL							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L322fs	ENST00000359637.2	37	c.962		1																																																																																			-	pfscan_Sushi_SCR_CCP		0.358	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	protein_coding	OTTHUMT00000087502.1	C	NM_000186			196654365	1	no_errors	ENST00000367429	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	196654365	C	-	196654365	7	5	128	1	0	1	0	1	0	0	0	0	3285	507	18	0	988	0	CFH	1	196654365	Frame_Shift_Del	DEL	C	TCGA-DX-AB32-01A-11D-A417-09	10293525	196654365	52596256	39	9552											
KIF14	9928	genome.wustl.edu	37	chr1	200572974	200572974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcattccatttacctttagtCgatctccattagtgtgagcc	7	11	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:200572974C>T	ENST00000367350.4	-	9	2294	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	619	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACCTTTAGTCGATCTCCATT	0.403																																																	0								ENSG00000118193						118	107	111					1																	200572974		2203	4300	6503	KIF14	SO:0001583	missense	0			-	HGNC	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1856G>A	1.37:g.200572974C>T	ENSP00000356319:p.Arg619Gln	Somatic	0	67	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	39	42.65	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R619Q	ENST00000367350.4	37	c.1856	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.440016	0.96168	.	.	ENSG00000118193	ENST00000367350	T	0.75260	-0.92	5.31	3.46	0.39613	Kinesin, motor domain (4);	0.068450	0.64402	N	0.000019	D	0.84047	0.5386	M	0.75884	2.315	0.53688	D	0.999975	D	0.89917	1.0	D	0.77557	0.99	D	0.84421	0.0571	10	0.87932	D	0	.	11.5303	0.50604	0.0:0.8548:0.0:0.1452	.	619	Q15058	KIF14_HUMAN	Q	619	ENSP00000356319:R619Q	ENSP00000356319:R619Q	R	-	2	0	KIF14	198839597	0.997000	0.39634	0.082000	0.20525	0.664000	0.39144	3.794000	0.55492	0.633000	0.30452	0.585000	0.79938	CGA	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.403	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	protein_coding	OTTHUMT00000086878.1	C	NM_014875	-		200572974	-1	no_errors	ENST00000367350	ensembl	human	known	74_37	missense	SNP	0.978	T	T	200572974	C	T	200572974	3	4	128	1	0	0	0	0	1	0	0	0	8278	884	31	1	3178	1	KIF14	1	200572974	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3918609	200572974	48677647	40	9553											
IGFN1	91156	genome.wustl.edu	37	chr1	201174376	201174376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtatgtgtcccctgaCgggctgacccaccggctggt	14	12	0	2	rs367631324	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:201174376C>T	ENST00000335211.4	+	11	1213	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	IGFN1_ENST00000451870.2_Silent_p.D361D|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	361	Ig-like 2.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTCCCCTGACGGGCTGACCC	0.622													C|||	2	0.000399361	0	0	5008	,	,		15511	0.002		0	False		,,,				2504	0																0								ENSG00000163395	C		1,1383		0,1,691	28	28	28		1083	-3.6	0.5	1		28	0,3182		0,0,1591	no	coding-synonymous	IGFN1	NM_001164586.1		0,1,2282	TT,TC,CC		0.0,0.0723,0.0219		361/3709	201174376	1,4565	692	1591	2283	IGFN1	SO:0001819	synonymous_variant	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1083C>T	1.37:g.201174376C>T		Somatic	0	49	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	F8WAI1|Q9NT72	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D361	ENST00000335211.4	37	c.1083	CCDS53455.1	1																																																																																			-	smart_Ig_sub		0.622	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		C	NM_178275	-		201174376	1	no_errors	ENST00000335211	ensembl	human	known	74_37	silent	SNP	0.943	T	T	201174376	C	T	201174376	2	4	128	1	0	0	0	0	0	0	0	1	7592	535	19	1		1	IGFN1	1	201174376	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	601402	201174376	48076245	41	9554											
FMOD	2331	genome.wustl.edu	37	chr1	203316599	203316599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatacagcagcttgggcGccccccggaagtagctatcg	12	14	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:203316599G>A	ENST00000354955.4	-	2	1263	c.800C>T	c.(799-801)gCg>gTg	p.A267V	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|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)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAA	0.577																																																	0								ENSG00000122176																																			FMOD	SO:0001583	missense	0			-	HGNC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800C>T	1.37:g.203316599G>A	ENSP00000347041:p.Ala267Val	Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	50	31.51	Q15331|Q8IV47	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.A267V	ENST00000354955.4	37	c.800	CCDS30976.1	1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806281	0.16467	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.56776	0.44	5.18	5.18	0.71444	.	0.453471	0.23893	N	0.043529	T	0.26846	0.0657	N	0.01771	-0.73	0.09310	N	1	B	0.20261	0.043	B	0.18263	0.021	T	0.15492	-1.0435	10	0.36615	T	0.2	-11.572	12.3941	0.55374	0.0:0.0:0.8318:0.1682	.	267	Q06828	FMOD_HUMAN	V	254;267	ENSP00000347041:A267V	ENSP00000347041:A267V	A	-	2	0	FMOD	201583222	0.105000	0.21958	0.058000	0.19502	0.892000	0.51952	1.745000	0.38278	2.414000	0.81942	0.655000	0.94253	GCG	-	NULL		0.577	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	protein_coding	OTTHUMT00000087472.1	G	NM_002023	-		203316599	-1	no_errors	ENST00000354955	ensembl	human	known	74_37	missense	SNP	0.002	A	A	203316599	G	A	203316599	3	1	128	1	0	0	0	0	1	0	0	0	5961	1087	38	1	338	1	FMOD	1	203316599	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2142223	203316599	45934022	42	9555											
OBSCN	84033	genome.wustl.edu	37	chr1	228506748	228506748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagctgccagaggaggaCggccgctcgcagcgcctgcc	16	15	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:228506748C>T	ENST00000422127.1	+	54	14339	c.14295C>T	c.(14293-14295)gaC>gaT	p.D4765D	OBSCN_ENST00000366707.4_Silent_p.D2399D|OBSCN_ENST00000284548.11_Silent_p.D4765D|OBSCN_ENST00000366709.4_Silent_p.D1884D|OBSCN_ENST00000570156.2_Silent_p.D5722D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4765					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)				CAGAGGAGGACGGCCGCTCGC	0.657																																																	0								ENSG00000154358						18	23	21					1																	228506748		2197	4290	6487	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.14295C>T	1.37:g.228506748C>T		Somatic	0	37	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.D4765	ENST00000422127.1	37	c.14295	CCDS58065.1	1																																																																																			-	NULL		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228506748	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.002	T	T	228506748	C	T	228506748	2	4	128	1	0	0	0	0	0	0	0	1	10814	535	19	1		1	OBSCN	1	228506748	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	25190149	228506748	20743873	43	9556											
TTC13	79573	genome.wustl.edu	37	chr1	231067164	231067164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccatggcaacatggcTgagccctttcatatactggc	9	13	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:231067164T>C	ENST00000366661.4	-	11	1187	c.1180A>G	c.(1180-1182)Agc>Ggc	p.S394G	TTC13_ENST00000414259.1_Missense_Mutation_p.S341G|TTC13_ENST00000366662.4_Missense_Mutation_p.S341G	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	394										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCAACATGGCTGAGCCCTTTC	0.443																																																	0								ENSG00000143643						142	134	137					1																	231067164		2203	4300	6503	TTC13	SO:0001583	missense	0			-	HGNC		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1180A>G	1.37:g.231067164T>C	ENSP00000355621:p.Ser394Gly	Somatic	0	43	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S394G	ENST00000366661.4	37	c.1180	CCDS1588.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097922	0.76870	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.60548	1.16;0.18;0.18	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	N	0.24115	0.695	0.80722	D	1	P;D;P;P	0.58268	0.835;0.982;0.763;0.704	B;D;B;B	0.67548	0.261;0.952;0.21;0.363	T	0.68895	-0.5288	10	0.87932	D	0	0.0119	16.0941	0.81109	0.0:0.0:0.0:1.0	.	319;341;341;394	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	G	394;341;341	ENSP00000355621:S394G;ENSP00000355622:S341G;ENSP00000416631:S341G	ENSP00000355621:S394G	S	-	1	0	TTC13	229133787	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.963000	0.87922	2.203000	0.70933	0.477000	0.44152	AGC	-	pfscan_TPR-contain_dom		0.443	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	protein_coding	OTTHUMT00000092229.2	T	NM_024525	-		231067164	-1	no_errors	ENST00000366661	ensembl	human	known	74_37	missense	SNP	1.000	C	C	231067164	T	C	231067164	3	2	128	1	0	0	0	0	1	0	0	0	16687	1580	55	5	1454	5	TTC13	1	231067164	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	2560416	231067164	18183457	44	9557											
TSNAX	7257	genome.wustl.edu	37	chr1	231696971	231696971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataaacaattgatatttacGactgaagacaatgggaaaga	8	4	0	4	rs372994168		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:231696971G>A	ENST00000366639.4	+	5	623	c.465G>A	c.(463-465)acG>acA	p.T155T	TSNAX-DISC1_ENST00000602962.1_Silent_p.T155T	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	155	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TGATATTTACGACTGAAGACA	0.279																																																	0								ENSG00000116918	G		0,4392		0,0,2196	46	52	50		465	0	1	1		50	1,8573	1.2+/-3.3	0,1,4286	no	coding-synonymous	TSNAX	NM_005999.2		0,1,6482	AA,AG,GG		0.0117,0.0,0.0077		155/291	231696971	1,12965	2196	4287	6483	TSNAX	SO:0001819	synonymous_variant	0			-	HGNC	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.465G>A	1.37:g.231696971G>A		Somatic	0	86	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	93	23.77	B1APC6	Silent	SNP							pfam_Translin,superfamily_Translin	p.T155	ENST00000366639.4	37	c.465	CCDS1596.1	1																																																																																			-	pfam_Translin,superfamily_Translin		0.279	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	protein_coding	OTTHUMT00000095267.2	G	NM_005999	-		231696971	1	no_errors	ENST00000366639	ensembl	human	known	74_37	silent	SNP	0.158	A	A	231696971	G	A	231696971	2	1	128	1	0	0	0	0	0	0	0	1	16638	1045	37	1		1	TSNAX	1	231696971	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	629807	231696971	17553650	45	9558											
RYR2	6262	genome.wustl.edu	37	chr1	237758894	237758894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagattggctgtgtggtGgatgctgccagcgggctgct	18	8	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:237758894G>A	ENST00000366574.2	+	34	4850	c.4533G>A	c.(4531-4533)gtG>gtA	p.V1511V	RYR2_ENST00000360064.6_Silent_p.V1509V|RYR2_ENST00000542537.1_Silent_p.V1495V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1511	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGTGTGGTGGATGCTGCCA	0.527																																																	0								ENSG00000198626						78	88	84					1																	237758894		2116	4237	6353	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4533G>A	1.37:g.237758894G>A		Somatic	0	53	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V1509	ENST00000366574.2	37	c.4527	CCDS55691.1	1																																																																																			-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237758894	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	1.000	A	A	237758894	G	A	237758894	2	1	128	1	0	0	0	0	0	0	0	1	13777	1335	47	2		2	RYR2	1	237758894	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	6061923	237758894	11491727	46	9559											
RYR2	6262	genome.wustl.edu	37	chr1	237919660	237919660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggcgcggctgagatgGtgctacagacaatcagtgcc	14	10	1	2	rs536555602		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:237919660G>T	ENST00000366574.2	+	81	11535	c.11218G>T	c.(11218-11220)Gtg>Ttg	p.V3740L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3746L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3724L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3740					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V3738M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTGAGATGGTGCTACAGAC	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		17618	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						ENSG00000198626						97	101	99					1																	237919660		1970	4169	6139	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11218G>T	1.37:g.237919660G>T	ENSP00000355533:p.Val3740Leu	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V3746L	ENST00000366574.2	37	c.11236	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292083	0.40594	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93426	-3.22;-3.22;-3.22	5.44	5.44	0.79542	.	0.000000	0.53938	U	0.000058	D	0.96923	0.8995	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.986	D	0.97243	0.9892	10	0.87932	D	0	.	18.6247	0.91333	0.0:0.0:1.0:0.0	.	714;3740	B4DGV4;Q92736	.;RYR2_HUMAN	L	3740;3746;3724;714	ENSP00000355533:V3740L;ENSP00000353174:V3746L;ENSP00000443798:V3724L	ENSP00000353174:V3746L	V	+	1	0	RYR2	235986283	1.000000	0.71417	0.998000	0.56505	0.105000	0.19272	9.813000	0.99286	2.717000	0.92951	0.563000	0.77884	GTG	-	NULL		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237919660	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	T	T	237919660	G	T	237919660	3	4	128	1	0	0	0	0	1	0	0	0	13777	1261	44	3	11540	3	RYR2	1	237919660	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	160766	237919660	11330961	47	9560											
OR2T11	127077	genome.wustl.edu	37	chr1	248789924	248789924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaaaaatggttgatacttCgggagccacagtaagggaca	12	6	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:248789924C>T	ENST00000330803.2	-	1	567	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R169Q(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GTTGATACTTCGGGAGCCACA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000183130						54	60	58					1																	248789924		2047	4233	6280	OR2T11	SO:0001583	missense	0			-	HGNC	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.506G>A	1.37:g.248789924C>T	ENSP00000328934:p.Arg169Gln	Somatic	0	28	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	Q6IEY6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R169Q	ENST00000330803.2	37	c.506	CCDS31122.1	1	.	.	.	.	.	.	.	.	.	.	.	8.429	0.848082	0.17034	.	.	ENSG00000183130	ENST00000330803	T	0.00044	8.83	4.38	0.12	0.14691	GPCR, rhodopsin-like superfamily (1);	0.777423	0.10998	N	0.610864	T	0.00144	0.0004	L	0.45137	1.4	0.09310	N	1	B	0.25105	0.118	B	0.29077	0.098	T	0.10989	-1.0606	10	0.54805	T	0.06	.	8.1251	0.30995	0.0:0.5212:0.0:0.4788	.	169	Q8NH01	O2T11_HUMAN	Q	169	ENSP00000328934:R169Q	ENSP00000328934:R169Q	R	-	2	0	OR2T11	246856547	0.000000	0.05858	0.002000	0.10522	0.253000	0.25986	-0.663000	0.05299	0.086000	0.17137	0.655000	0.94253	CGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T11	protein_coding	OTTHUMT00000097134.1	C	NM_001001964	-		248789924	-1	no_errors	ENST00000330803	ensembl	human	known	74_37	missense	SNP	0.000	T	T	248789924	C	T	248789924	3	4	128	1	0	0	0	0	1	0	0	0	11020	884	31	1	448	1	OR2T11	1	248789924	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	10870264	248789924	460697	48	9561											
ZNF672	79894	genome.wustl.edu	37	chr1	249142625	249142625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcctccaagcttgcactGcaccgcaagacgcacctggg	11	16	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr1:249142625G>A	ENST00000306562.3	+	4	1898	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	384					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(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGCTTGCACTGCACCGCAAGA	0.642																																																	0								ENSG00000171161						35	32	33					1																	249142625		2200	4300	6500	ZNF672	SO:0001819	synonymous_variant	0			-	HGNC	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1152G>A	1.37:g.249142625G>A		Somatic	0	63	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	Q96H65|Q96IM3|Q9H6G5	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L384	ENST00000306562.3	37	c.1152	CCDS1638.1	1																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.642	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	protein_coding	OTTHUMT00000097125.2	G	NM_024836	-		249142625	1	no_errors	ENST00000306562	ensembl	human	known	74_37	silent	SNP	0.050	A	A	249142625	G	A	249142625	2	1	128	1	0	0	0	0	0	0	0	1	18086	1306	46	2		2	ZNF672	1	249142625	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	352701	249142625	107996	49	9562											
MYT1L	23040	genome.wustl.edu	37	chr2	1796148	1796148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagactggctcaggttcGccagctcgtggaggagagac	15	10	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:1796148G>A	ENST00000399161.2	-	24	4112	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V	MYT1L_ENST00000407844.1_Missense_Mutation_p.A120V|MYT1L_ENST00000428368.2_Missense_Mutation_p.A1120V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1122					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTCAGGTTCGCCAGCTCGTG	0.542																																																	0								ENSG00000186487						85	91	89					2																	1796148		2075	4223	6298	MYT1L	SO:0001583	missense	0			-	HGNC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3365C>T	2.37:g.1796148G>A	ENSP00000382114:p.Ala1122Val	Somatic	0	24	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.A1122V	ENST00000399161.2	37	c.3365		2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783788	0.90282	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.49139	0.79;2.28;0.79	5.5	5.5	0.81552	.	0.047167	0.85682	D	0.000000	T	0.66366	0.2782	L	0.58101	1.795	0.58432	D	0.999999	D;D;D	0.89917	0.974;0.999;1.0	P;P;D	0.66716	0.542;0.883;0.946	T	0.68356	-0.5430	10	0.87932	D	0	-38.2564	19.3812	0.94536	0.0:0.0:1.0:0.0	.	120;1122;1120	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	V	1122;1068;120;176;1120	ENSP00000382114:A1122V;ENSP00000382111:A176V;ENSP00000396103:A1120V	ENSP00000295067:A1068V	A	-	2	0	MYT1L	1775155	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.789000	0.85783	2.572000	0.86782	0.655000	0.94253	GCG	-	NULL		0.542	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	G	NM_015025	-		1796148	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1796148	G	A	1796148	3	1	128	1	0	0	0	0	1	0	0	0	10109	1087	38	1	203	1	MYT1L	2	1796148	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		1796148	241403225	50	9563											
CAPN13	92291	genome.wustl.edu	37	chr2	31010173	31010173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggaggtctccactgaagGctcctggtaatacgccatga	12	10	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:31010173G>T	ENST00000295055.8	-	2	195	c.19C>A	c.(19-21)Cct>Act	p.P7T	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.P7T	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	7					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCACTGAAGGCTCCTGGTAA	0.498																																																	0								ENSG00000162949						41	41	41					2																	31010173		1982	4154	6136	CAPN13	SO:0001583	missense	0			-	HGNC		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.19C>A	2.37:g.31010173G>T	ENSP00000295055:p.Pro7Thr	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.P7T	ENST00000295055.8	37	c.19	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.86956	-2.19;-2.18	5.24	-4.93	0.03066	.	1.907810	0.02282	N	0.069452	T	0.80529	0.4640	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60250	-0.7300	10	0.72032	D	0.01	.	1.1165	0.01715	0.271:0.187:0.3527:0.1893	.	7	Q6MZZ7	CAN13_HUMAN	T	7	ENSP00000295055:P7T;ENSP00000431298:P7T	ENSP00000295055:P7T	P	-	1	0	CAPN13	30863677	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.851000	0.04313	-1.230000	0.02561	-2.053000	0.00404	CCT	-	NULL		0.498	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	protein_coding	OTTHUMT00000325101.2	G	NM_144575	-		31010173	-1	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	SNP	0.000	T	T	31010173	G	T	31010173	3	4	128	1	0	0	0	0	1	0	0	0	2628	1203	42	3	2074	3	CAPN13	2	31010173	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	29214025	31010173	212189200	51	9564											
ABCG8	64241	genome.wustl.edu	37	chr2	44102440	44102440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggattatggccctggcCgccgcggccctgctccccac	12	18	0	0	rs200018072		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:44102440C>T	ENST00000272286.2	+	11	1734	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	548	ABC transmembrane type-2.				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)			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)	TGGCCCTGGCCGCCGCGGCCC	0.612													C|||	1	0.000199681	0	0	5008	,	,		16091	0		0	False		,,,				2504	0.001																0								ENSG00000143921	C		0,4406		0,0,2203	67	65	65		1644	-9.4	0	2		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCG8	NM_022437.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		548/674	44102440	1,13005	2203	4300	6503	ABCG8	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.1644C>T	2.37:g.44102440C>T		Somatic	0	30	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q53QN8	Silent	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	p.A548	ENST00000272286.2	37	c.1644	CCDS1815.1	2																																																																																			-	pfam_ABC_2_trans		0.612	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	protein_coding	OTTHUMT00000250671.1	C	NM_022437	rs200018072		44102440	1	no_errors	ENST00000272286	ensembl	human	known	74_37	silent	SNP	0.001	T	T	44102440	C	T	44102440	2	4	128	1	0	0	0	0	0	0	0	1	72	639	23	1		1	ABCG8	2	44102440	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	13092267	44102440	199096933	52	9565											
PCYOX1	51449	genome.wustl.edu	37	chr2	70486511	70486511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgattattggagccggaatTggtggcacttcagcagccta	13	9	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:70486511T>C	ENST00000433351.2	+	2	160	c.132T>C	c.(130-132)atT>atC	p.I44I	PCYOX1_ENST00000264441.5_Silent_p.I44I|PCYOX1_ENST00000545138.1_5'UTR|PCYOX1_ENST00000505044.2_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	44					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GAGCCGGAATTGGTGGCACTT	0.443																																																	0								ENSG00000116005						142	159	153					2																	70486511		2203	4300	6503	PCYOX1	SO:0001819	synonymous_variant	0			-	HGNC	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.132T>C	2.37:g.70486511T>C		Somatic	0	88	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	81	20.59	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP							pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.I44	ENST00000433351.2	37	c.132	CCDS1902.1	2																																																																																			-	pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_Prenylcysteine_Oxase		0.443	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	protein_coding	OTTHUMT00000251872.3	T	NM_016297	-		70486511	1	no_errors	ENST00000433351	ensembl	human	known	74_37	silent	SNP	0.997	C	C	70486511	T	C	70486511	2	2	128	1	0	0	0	0	0	0	0	1	11610	1800	63	5		5	PCYOX1	2	70486511	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	26384071	70486511	172712862	53	9566											
FIGLA	344018	genome.wustl.edu	37	chr2	71012570	71012570	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttctggttggggagataaTttcagtcgtagacatcacac	10	8	3	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:71012570T>A	ENST00000332372.6	-	3	590	c.586A>T	c.(586-588)Att>Ttt	p.I196F		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	196					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						GGGGAGATAATTTCAGTCGTA	0.433																																																	0								ENSG00000183733						182	180	180					2																	71012570		1998	4162	6160	FIGLA	SO:0001583	missense	0			-	HGNC	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.586A>T	2.37:g.71012570T>A	ENSP00000333097:p.Ile196Phe	Somatic	0	63	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	68	25.27		Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I196F	ENST00000332372.6	37	c.586	CCDS46320.1	2	.	.	.	.	.	.	.	.	.	.	T	9.794	1.178585	0.21787	.	.	ENSG00000183733	ENST00000332372	D	0.96200	-3.94	4.12	1.38	0.22167	.	1.589190	0.04151	N	0.321366	D	0.88403	0.6427	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.15870	0.014	T	0.79502	-0.1777	10	0.29301	T	0.29	.	6.1325	0.20213	0.0:0.6817:0.0:0.3183	.	196	Q6QHK4	FIGLA_HUMAN	F	196	ENSP00000333097:I196F	ENSP00000333097:I196F	I	-	1	0	FIGLA	70866078	0.000000	0.05858	0.013000	0.15412	0.009000	0.06853	-0.177000	0.09796	0.308000	0.22923	-0.137000	0.14449	ATT	-	NULL		0.433	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	protein_coding	OTTHUMT00000331214.1	T	NM_001004311	-		71012570	-1	no_errors	ENST00000332372	ensembl	human	known	74_37	missense	SNP	0.015	A	A	71012570	T	A	71012570	3	1	128	1	0	0	0	0	1	0	0	0	5892	1493	52	5	85	5	FIGLA	2	71012570	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	526059	71012570	172186803	54	9567											
SNRNP200	23020	genome.wustl.edu	37	chr2	96970557	96970557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtgggttcatcccggCgggtccggtcaatgagagaa	14	11	2	2	rs371058559		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:96970557C>T	ENST00000323853.5	-	2	172	c.95G>A	c.(94-96)cGc>cAc	p.R32H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R32H|AC021188.4_ENST00000421534.1_RNA	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	32					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						TTCATCCCGGCGGGTCCGGTC	0.537																																																	0								ENSG00000144028	C	HIS/ARG	0,4406		0,0,2203	73	67	69		95	5.6	1	2		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRNP200	NM_014014.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	32/2137	96970557	1,13005	2203	4300	6503	SNRNP200	SO:0001583	missense	0			-	HGNC	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.95G>A	2.37:g.96970557C>T	ENSP00000317123:p.Arg32His	Somatic	0	69	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	59	36.84	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP							pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R32H	ENST00000323853.5	37	c.95	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541871	0.85917	0.0	1.16E-4	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.44083	0.93;0.93	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.77103	2.36	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46386	-0.9195	10	0.51188	T	0.08	-10.2621	18.4682	0.90763	0.0:1.0:0.0:0.0	.	32	O75643	U520_HUMAN	H	32	ENSP00000317123:R32H;ENSP00000326937:R32H	ENSP00000317123:R32H	R	-	2	0	SNRNP200	96334284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.361000	0.79497	2.658000	0.90341	0.563000	0.77884	CGC	-	NULL		0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	protein_coding	OTTHUMT00000252846.2	C	NM_014014	-		96970557	-1	no_errors	ENST00000323853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96970557	C	T	96970557	3	4	128	1	0	0	0	0	1	0	0	0	14860	768	27	1	6491	1	SNRNP200	2	96970557	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	25957987	96970557	146228816	55	9568											
PTPN4	5775	genome.wustl.edu	37	chr2	120692378	120692378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccctctttatttagtcGaaattctacattcacgcagg	5	11	4	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:120692378G>A	ENST00000263708.2	+	15	1970	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	PTPN4_ENST00000544261.1_Missense_Mutation_p.R33Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	400					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTATTTAGTCGAAATTCTACA	0.368																																																	0								ENSG00000088179						86	80	82					2																	120692378		2203	4300	6503	PTPN4	SO:0001583	missense	0			-	HGNC		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1199G>A	2.37:g.120692378G>A	ENSP00000263708:p.Arg400Gln	Somatic	0	130	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	116	10.77	B2RBV8|Q9UDA7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R400Q	ENST00000263708.2	37	c.1199	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435714	0.83885	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.52057	0.68;0.68;0.68	5.77	5.77	0.91146	.	0.187463	0.45126	D	0.000395	T	0.41190	0.1148	L	0.53249	1.67	0.50632	D	0.999885	P	0.39782	0.688	B	0.27380	0.079	T	0.32052	-0.9921	10	0.19590	T	0.45	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	400	P29074	PTN4_HUMAN	Q	400;33;26	ENSP00000263708:R400Q;ENSP00000445841:R33Q;ENSP00000387457:R26Q	ENSP00000263708:R400Q	R	+	2	0	PTPN4	120408848	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.847000	0.92166	2.890000	0.99128	0.650000	0.86243	CGA	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.368	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	protein_coding	OTTHUMT00000254233.2	G		-		120692378	1	no_errors	ENST00000263708	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120692378	G	A	120692378	3	1	128	1	0	0	0	0	1	0	0	0	12798	1058	37	1	1253	1	PTPN4	2	120692378	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	23721821	120692378	122506995	56	9569											
POTEF	728378	genome.wustl.edu	37	chr2	130877846	130877846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtggtctccagaagcGcccacgttgctcttgccact	10	15	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:130877846G>A	ENST00000409914.2	-	3	642	c.243C>T	c.(241-243)ggC>ggT	p.G81G	POTEF_ENST00000360967.5_Silent_p.G81G|POTEF_ENST00000357462.5_Silent_p.G81G|POTEF_ENST00000361163.4_Silent_p.G81G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	81					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCAGAAGCGCCCACGTTGC	0.597																																																	0								ENSG00000196604						92	122	112					2																	130877846		2202	4295	6497	POTEF	SO:0001819	synonymous_variant	0			-	HGNC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.243C>T	2.37:g.130877846G>A		Somatic	0	143	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	82	21.70	A6NC34	Silent	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.G81	ENST00000409914.2	37	c.243	CCDS46409.1	2																																																																																			-	NULL		0.597	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	protein_coding	OTTHUMT00000331889.2	G	NM_001099771	-		130877846	-1	no_errors	ENST00000357462	ensembl	human	known	74_37	silent	SNP	0.002	A	A	130877846	G	A	130877846	2	1	128	1	0	0	0	0	0	0	0	1	12267	1074	38	1		1	POTEF	2	130877846	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	10185468	130877846	112321527	57	9570											
LRP1B	53353	genome.wustl.edu	37	chr2	141201965	141201965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcttaagtttactgggaTacatttctggttcttggtac	8	7	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:141201965T>C	ENST00000389484.3	-	65	11199	c.10228A>G	c.(10228-10230)Atc>Gtc	p.I3410V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3410	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		TTTACTGGGATACATTTCTGG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						208	193	198					2																	141201965		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.10228A>G	2.37:g.141201965T>C	ENSP00000374135:p.Ile3410Val	Somatic	0	79	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I3410V	ENST00000389484.3	37	c.10228	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491456	0.64074	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98012	-4.66	5.22	5.22	0.72569	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.97848	0.9293	L	0.46819	1.47	0.51012	D	0.999909	D	0.63880	0.993	D	0.76071	0.987	D	0.97712	1.0191	10	0.35671	T	0.21	.	15.2632	0.73640	0.0:0.0:0.0:1.0	.	3410	Q9NZR2	LRP1B_HUMAN	V	3410;3348	ENSP00000374135:I3410V	ENSP00000374135:I3410V	I	-	1	0	LRP1B	140918435	1.000000	0.71417	0.978000	0.43139	0.901000	0.52897	7.825000	0.86693	2.189000	0.69895	0.460000	0.39030	ATC	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	T	NM_018557	-		141201965	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141201965	T	C	141201965	3	2	128	1	0	0	0	0	1	0	0	0	8957	1406	49	5	3679	5	LRP1B	2	141201965	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	10324119	141201965	101997408	58	9571											
LRP1B	53353	genome.wustl.edu	37	chr2	141474275	141474275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccagtcaacagctatccCttccactcttcccaagccat	3	17	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:141474275C>A	ENST00000389484.3	-	36	6840	c.5869G>T	c.(5869-5871)Ggg>Tgg	p.G1957W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1957					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)		ACAGCTATCCCTTCCACTCTT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						146	131	136					2																	141474275		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.5869G>T	2.37:g.141474275C>A	ENSP00000374135:p.Gly1957Trp	Somatic	0	80	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	52	29.73	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G1957W	ENST00000389484.3	37	c.5869	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728303	0.89390	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96745	-4.11	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.071052	0.56097	U	0.000028	D	0.98789	0.9592	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99548	1.0965	10	0.87932	D	0	.	19.3164	0.94215	0.0:1.0:0.0:0.0	.	1957	Q9NZR2	LRP1B_HUMAN	W	1957;1895	ENSP00000374135:G1957W	ENSP00000374135:G1957W	G	-	1	0	LRP1B	141190745	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.583000	0.82559	2.572000	0.86782	0.460000	0.39030	GGG	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		141474275	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141474275	C	A	141474275	3	1	128	1	0	0	0	0	1	0	0	0	8957	681	24	3	8154	3	LRP1B	2	141474275	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	272310	141474275	101725098	59	9572											
NEB	4703	genome.wustl.edu	37	chr2	152464097	152464097	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgttgcttttatctTtattccaggcttcctgatac	8	8	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:152464097T>G	ENST00000172853.10	-	77	11749				NEB_ENST00000604864.1_Missense_Mutation_p.K4187T|NEB_ENST00000427231.2_Missense_Mutation_p.K4187T|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.K4187T|NEB_ENST00000603639.1_Missense_Mutation_p.K4187T			P20929	NEBU_HUMAN	nebulin						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)		GCTTTTATCTTTATTCCAGGC	0.418																																																	0								ENSG00000183091						52	31	39					2																	152464097		672	957	1629	NEB	SO:0001627	intron_variant	0			-	HGNC	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.11601+2225A>C	2.37:g.152464097T>G		Somatic	0	129	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	136	15.00	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K4187T	ENST00000172853.10	37	c.12560		2	.	.	.	.	.	.	.	.	.	.	T	4.356	0.065565	0.08388	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.61040	0.14;0.14	3.69	2.5	0.30297	.	.	.	.	.	T	0.70334	0.3212	M	0.87097	2.86	0.80722	D	1	.	.	.	.	.	.	T	0.69591	-0.5104	7	0.66056	D	0.02	.	7.2148	0.25953	0.0:0.1157:0.0:0.8843	.	.	.	.	T	4187	ENSP00000380505:K4187T;ENSP00000416578:K4187T	ENSP00000380505:K4187T	K	-	2	0	NEB	152172343	1.000000	0.71417	0.997000	0.53966	0.242000	0.25591	0.625000	0.24477	0.411000	0.25702	0.327000	0.21459	AAA	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		T	NM_004543	-		152464097	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	G	G	152464097	T	G	152464097	1	3	128	0	1	0	0	0	0	0	0	0	10304	1841	64	5		5	NEB	2	152464097	Intron	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	10989822	152464097	90735276	60	9573											
SP3	6670	genome.wustl.edu	37	chr2	174774931	174774931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatatgtttggcaaggTggtcacttctcataaagcgt	9	6	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:174774931T>C	ENST00000310015.6	-	7	2614	c.2084A>G	c.(2083-2085)cAc>cGc	p.H695R	SP3_ENST00000418194.2_Missense_Mutation_p.H627R|SP3_ENST00000455789.2_Missense_Mutation_p.H642R	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	695					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTTGGCAAGGTGGTCACTTCT	0.348																																																	0								ENSG00000172845						105	102	103					2																	174774931		2203	4300	6503	SP3	SO:0001583	missense	0			-	HGNC	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2084A>G	2.37:g.174774931T>C	ENSP00000310301:p.His695Arg	Somatic	0	37	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP							pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H695R	ENST00000310015.6	37	c.2084	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.52|11.52	1.663393|1.663393	0.29515|0.29515	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.70164|.	-0.46;-0.46;-0.46|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72374|0.72374	0.3452|0.3452	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.955;0.998;1.0|.	P;D;D|.	0.97110|.	0.77;0.939;1.0|.	T|T	0.72297|0.72297	-0.4335|-0.4335	10|5	0.87932|.	D|.	0|.	.|.	15.2595|15.2595	0.73610|0.73610	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	692;695;642|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	R|A	695;642;627|652	ENSP00000310301:H695R;ENSP00000388903:H642R;ENSP00000406140:H627R|.	ENSP00000310301:H695R|.	H|T	-|-	2|1	0|0	SP3|SP3	174483177|174483177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.997000|7.997000	0.88414|0.88414	2.069000|2.069000	0.61940|0.61940	0.455000|0.455000	0.32223|0.32223	CAC|ACC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	protein_coding	OTTHUMT00000255452.1	T	NM_003111	-		174774931	-1	no_errors	ENST00000310015	ensembl	human	known	74_37	missense	SNP	1.000	C	C	174774931	T	C	174774931	3	2	128	1	0	0	0	0	1	0	0	0	14973	1696	59	5	265	5	SP3	2	174774931	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	22310834	174774931	68424442	61	9574											
TTN	7273	genome.wustl.edu	37	chr2	179469795	179469795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagtgcctttgtcctcccGgaccgctttgggaatgctaa	11	11	0	0	rs201623791		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:179469795G>A	ENST00000591111.1	-	230	49410	c.49186C>T	c.(49186-49188)Cgg>Tgg	p.R16396W	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9097W|TTN_ENST00000460472.2_Missense_Mutation_p.R8972W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9164W|TTN_ENST00000589042.1_Missense_Mutation_p.R18037W|TTN_ENST00000342992.6_Missense_Mutation_p.R15469W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16396	Ig-like 100.				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)			TTGTCCTCCCGGACCGCTTTG	0.448																																																	0								ENSG00000155657	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,3840		0,0,1920	243	227	232		26914,46405,27289,27490	4.9	0.2	2		232	3,8247		0,3,4122	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	101,101,101,101	0,3,6042	AA,AG,GG		0.0364,0.0,0.0248	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8972/26927,15469/33424,9097/27052,9164/27119	179469795	3,12087	1920	4125	6045	TTN	SO:0001583	missense	0			-	HGNC	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.49186C>T	2.37:g.179469795G>A	ENSP00000465570:p.Arg16396Trp	Somatic	0	35	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15469W	ENST00000591111.1	37	c.46405		2	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877302	0.17395	0.0	3.64E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.78	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69672	0.3137	M	0.89968	3.075	0.47659	D	0.99948	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	T	0.76594	-0.2902	9	0.87932	D	0	.	12.9857	0.58590	0.0:0.0:0.5569:0.443	.	8972;9097;9164;16396	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	15469;8972;9164;9097;8972	ENSP00000343764:R15469W;ENSP00000434586:R8972W;ENSP00000340554:R9164W;ENSP00000352154:R9097W	ENSP00000340554:R9164W	R	-	1	2	TTN	179178040	1.000000	0.71417	0.212000	0.23672	0.675000	0.39556	3.181000	0.50903	1.413000	0.46997	0.563000	0.77884	CGG	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	rs201623791		179469795	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.829	A	A	179469795	G	A	179469795	3	1	128	1	0	0	0	0	1	0	0	0	16742	1115	39	1	53916	1	TTN	2	179469795	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4694864	179469795	63729578	62	9575											
NBEAL1	65065	genome.wustl.edu	37	chr2	203991416	203991416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactttcgtatttggaaccGtggagattttccctttcgaa	9	8	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:203991416G>A	ENST00000449802.1	+	21	3368	c.3035G>A	c.(3034-3036)cGt>cAt	p.R1012H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1012										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						ATTTGGAACCGTGGAGATTTT	0.328																																																	0								ENSG00000144426						96	73	80					2																	203991416		692	1591	2283	NBEAL1	SO:0001583	missense	0			-	HGNC	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.3035G>A	2.37:g.203991416G>A	ENSP00000399903:p.Arg1012His	Somatic	0	78	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1012H	ENST00000449802.1	37	c.3035	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	12.52	1.964117	0.34659	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.53640	0.61	5.09	3.28	0.37604	.	.	.	.	.	T	0.36138	0.0956	L	0.43152	1.355	0.38571	D	0.949953	B	0.06786	0.001	B	0.06405	0.002	T	0.16158	-1.0412	9	0.12430	T	0.62	.	11.3572	0.49623	0.1515:0.0:0.8485:0.0	.	1012	Q6ZS30	NBEL1_HUMAN	H	1012	ENSP00000399903:R1012H	ENSP00000344985:R1012H	R	+	2	0	NBEAL1	203699661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.578000	0.46051	0.648000	0.30732	0.467000	0.42956	CGT	-	NULL		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	protein_coding	OTTHUMT00000333982.4	G		-		203991416	1	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	SNP	1.000	A	A	203991416	G	A	203991416	3	1	128	1	0	0	0	0	1	0	0	0	10190	1145	40	1	3113	1	NBEAL1	2	203991416	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	24521621	203991416	39207957	63	9576											
FN1	2335	genome.wustl.edu	37	chr2	216288076	216288076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagggcttcatcttaccagCcatggggcagaacccaaact	9	13	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:216288076C>T	ENST00000359671.1	-	9	1655	c.1390G>A	c.(1390-1392)Gct>Act	p.A464T	FN1_ENST00000356005.4_Missense_Mutation_p.A464T|FN1_ENST00000354785.4_Missense_Mutation_p.A464T|FN1_ENST00000336916.4_Missense_Mutation_p.A464T|FN1_ENST00000432072.2_Missense_Mutation_p.A464T|FN1_ENST00000426059.1_Missense_Mutation_p.A464T|FN1_ENST00000345488.5_Missense_Mutation_p.A464T|FN1_ENST00000346544.3_Missense_Mutation_p.A464T|FN1_ENST00000357009.2_Missense_Mutation_p.A464T|FN1_ENST00000446046.1_Missense_Mutation_p.A464T|FN1_ENST00000357867.4_Missense_Mutation_p.A464T|FN1_ENST00000323926.6_Missense_Mutation_p.A464T|FN1_ENST00000443816.1_Missense_Mutation_p.A464T|FN1_ENST00000421182.1_Missense_Mutation_p.A464T			P02751	FINC_HUMAN	fibronectin 1	464	Collagen-binding.|Critical for collagen binding.				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)	ATCTTACCAGCCATGGGGCAG	0.453																																																	0								ENSG00000115414						96	88	91					2																	216288076		2203	4300	6503	FN1	SO:0001583	missense	0			-	HGNC		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.1390G>A	2.37:g.216288076C>T	ENSP00000352696:p.Ala464Thr	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	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	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.A464T	ENST00000359671.1	37	c.1390		2	.	.	.	.	.	.	.	.	.	.	C	36	5.781665	0.96929	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;2.11;2.27;0.81;2.33;1.98;2.33;1.97;2.28;2.02;1.5;0.82;1.41;1.42	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000005	T	0.65626	0.2709	L	0.45698	1.435	0.80722	D	1	D;D;P;B;D;D;D;D;D;D;B	0.76494	0.998;0.99;0.664;0.183;0.999;0.998;0.999;0.99;0.999;0.999;0.075	D;D;P;B;D;D;D;D;D;D;B	0.91635	0.996;0.99;0.597;0.251;0.996;0.99;0.999;0.976;0.996;0.996;0.171	T	0.64343	-0.6430	10	0.62326	D	0.03	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	464;464;464;464;464;464;464;464;464;464;464	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	T	464	ENSP00000394423:A464T;ENSP00000323534:A464T;ENSP00000338200:A464T;ENSP00000350534:A464T;ENSP00000346839:A464T;ENSP00000352696:A464T;ENSP00000265312:A464T;ENSP00000273049:A464T;ENSP00000349509:A464T;ENSP00000410422:A464T;ENSP00000415018:A464T;ENSP00000399538:A464T;ENSP00000348285:A464T;ENSP00000398907:A464T	ENSP00000265313:A464T	A	-	1	0	FN1	215996321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.802000	0.96397	0.655000	0.94253	GCT	-	superfamily_Kringle-like		0.453	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		C	NM_212476	-		216288076	-1	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216288076	C	T	216288076	3	4	128	1	0	0	0	0	1	0	0	0	5964	739	26	2	6228	2	FN1	2	216288076	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	12296660	216288076	26911297	64	9577											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217315650	217315650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagtcatgctgcggCgcctcaagtccgacgtcctt	12	13	2	0	rs119473037		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:217315650C>T	ENST00000357276.4	+	12	2263	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R645C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	645			R -> C (in SIOD). {ECO:0000269|PubMed:11799392}.		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATGCTGCGGCGCCTCAAGTC	0.602									Schimke Immuno-Osseous Dysplasia																																								0			GRCh37	CM020313	SMARCAL1	M	rs119473037	ENSG00000138375						63	61	62					2																	217315650		2203	4300	6503	SMARCAL1	SO:0001583	missense	0	Familial Cancer Database	SIOD	-	HGNC	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1933C>T	2.37:g.217315650C>T	ENSP00000349823:p.Arg645Cys	Somatic	0	30	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP							pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R645C	ENST00000357276.4	37	c.1933	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905865	0.92107	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.99961	-9.38;-9.38;-9.38	5.32	5.32	0.75619	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99273	4.495	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97764	1.0222	9	0.87932	D	0	-14.1219	18.0562	0.89365	0.0:1.0:0.0:0.0	.	645	Q9NZC9	SMAL1_HUMAN	C	645;645;487	ENSP00000349823:R645C;ENSP00000350940:R645C;ENSP00000375974:R487C	ENSP00000349823:R645C	R	+	1	0	SMARCAL1	217023895	1.000000	0.71417	0.971000	0.41717	0.848000	0.48234	6.004000	0.70709	2.483000	0.83821	0.644000	0.83932	CGC	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.602	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	C		rs119473037		217315650	1	no_errors	ENST00000357276	ensembl	human	known	74_37	missense	SNP	1.000	T	T	217315650	C	T	217315650	3	4	128	1	0	0	0	0	1	0	0	0	14781	768	27	1	1971	1	SMARCAL1	2	217315650	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1027574	217315650	25883723	65	9578											
ALPP	250	genome.wustl.edu	37	chr2	233246473	233246475	+	In_Frame_Del	DEL	CTG	CTG	-													ttcctctgctggccgggaccCtgctgctgctggagacggcc					rs1048998	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:233246473_233246475delCTG	ENST00000392027.2	+	11	1845_1847	c.1576_1578delCTG	c.(1576-1578)ctgdel	p.L529del	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	529					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCGGGACCCTGCTGCTGCTGG	0.734																																																	0								ENSG00000163283																																			ALPP	SO:0001651	inframe_deletion	0				HGNC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1576_1578delCTG	2.37:g.233246482_233246484delCTG	ENSP00000375881:p.Leu529del	Somatic	0	21	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	P05188|P06861|Q53S78|Q96DB7	In_Frame_Del	DEL							pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.L529in_frame_del	ENST00000392027.2	37	c.1576_1578	CCDS2490.1	2																																																																																			-	NULL		0.734	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	protein_coding	OTTHUMT00000257032.3	CTG	NM_001632			233246475	1	no_errors	ENST00000392027	ensembl	human	known	74_37	in_frame_del	DEL	0.007:0.103:0.307	-	-	233246475	CTG	-	233246473	7	5	128	1	0	1	0	1	0	0	0	0	548	680	24	0	1618	0	ALPP	2	233246473	In_Frame_Del	DEL	CTG	TCGA-DX-AB32-01A-11D-A417-09	15930823	233246473	9952900	66	9579											
DTYMK	1841	genome.wustl.edu	37	chr2	242615580	242615580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcttctctgtggcagTgcggatggcgtcctcagaga	15	11	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr2:242615580T>C	ENST00000305784.2	-	5	808	c.601A>G	c.(601-603)Act>Gct	p.T201A		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	201					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCTGTGGCAGTGCGGATGGCG	0.612																																																	0								ENSG00000168393						60	54	56					2																	242615580		2203	4296	6499	DTYMK	SO:0001583	missense	0			-	HGNC	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.601A>G	2.37:g.242615580T>C	ENSP00000304802:p.Thr201Ala	Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP							superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase	p.T201A	ENST00000305784.2	37	c.601	CCDS2552.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.792|2.792	-0.251124|-0.251124	0.05867|0.05867	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000445261|ENST00000305784	.|.	.|.	.|.	5.37|5.37	-0.494|-0.494	0.12034|0.12034	.|.	.|1.970280	.|0.02083	.|N	.|0.052533	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.15954|0.15954	-1.0419|-1.0419	5|9	.|0.09590	.|T	.|0.72	0.1549|0.1549	5.902|5.902	0.18972|0.18972	0.1338:0.5541:0.0:0.3121|0.1338:0.5541:0.0:0.3121	.|.	.|177;201	.|B7ZW70;P23919	.|.;KTHY_HUMAN	R|A	158|201	.|.	.|ENSP00000304802:T201A	H|T	-|-	2|1	0|0	DTYMK|DTYMK	242264253|242264253	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.040000|-0.040000	0.12104|0.12104	-0.043000|-0.043000	0.13513|0.13513	-0.297000|-0.297000	0.09499|0.09499	CAC|ACT	-	superfamily_P-loop_NTPase		0.612	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	protein_coding	OTTHUMT00000257266.2	T	NM_012145	-		242615580	-1	no_errors	ENST00000305784	ensembl	human	known	74_37	missense	SNP	0.000	C	C	242615580	T	C	242615580	3	2	128	1	0	0	0	0	1	0	0	0	4800	1696	59	5	41	5	DTYMK	2	242615580	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	9369107	242615580	583793	67	9580											
FGD5	152273	genome.wustl.edu	37	chr3	14949168	14949168	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaacctgcagaagctggtcCacattgagcacagcgtccgg	11	12	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:14949168C>G	ENST00000285046.5	+	10	3396	c.3286C>G	c.(3286-3288)Cac>Gac	p.H1096D	FGD5_ENST00000543601.1_Missense_Mutation_p.H855D|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1096					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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAAGCTGGTCCACATTGAGCA	0.632																																																	0								ENSG00000154783						51	56	54					3																	14949168		1982	4155	6137	FGD5	SO:0001583	missense	0			-	HGNC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3286C>G	3.37:g.14949168C>G	ENSP00000285046:p.His1096Asp	Somatic	0	98	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	372	13.26	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.H1096D	ENST00000285046.5	37	c.3286	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134487	0.56828	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.27402	1.67;1.67	5.24	5.24	0.73138	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000013	T	0.24547	0.0595	L	0.38175	1.15	0.46336	D	0.998995	P;P	0.42620	0.672;0.785	B;B	0.36766	0.181;0.232	T	0.03157	-1.1066	10	0.44086	T	0.13	-34.0352	14.3422	0.66636	0.0:1.0:0.0:0.0	.	855;1096	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	1096;855	ENSP00000285046:H1096D;ENSP00000445949:H855D	ENSP00000285046:H1096D	H	+	1	0	FGD5	14924172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.731000	0.55013	2.443000	0.82685	0.591000	0.81541	CAC	-	superfamily_DH-domain		0.632	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	protein_coding	OTTHUMT00000340628.1	C	NM_152536	-		14949168	1	no_errors	ENST00000285046	ensembl	human	known	74_37	missense	SNP	1.000	G	G	14949168	C	G	14949168	3	3	128	1	0	0	0	0	1	0	0	0	5838	594	21	4	3324	4	FGD5	3	14949168	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		14949168	183073262	68	9581											
FGD5	152273	genome.wustl.edu	37	chr3	14949206	14949206	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggggccaaggggatctcctCcagccaggaagggtgagtgc	17	11	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:14949206C>T	ENST00000285046.5	+	10	3434	c.3324C>T	c.(3322-3324)ctC>ctT	p.L1108L	FGD5_ENST00000543601.1_Silent_p.L867L|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1108					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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGATCTCCTCCAGCCAGGAA	0.647																																																	0								ENSG00000154783						42	49	46					3																	14949206		2012	4153	6165	FGD5	SO:0001819	synonymous_variant	0			-	HGNC	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3324C>T	3.37:g.14949206C>T		Somatic	0	77	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	315	11.02	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L1108	ENST00000285046.5	37	c.3324	CCDS46767.1	3																																																																																			-	NULL		0.647	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	protein_coding	OTTHUMT00000340628.1	C	NM_152536	-		14949206	1	no_errors	ENST00000285046	ensembl	human	known	74_37	silent	SNP	1.000	T	T	14949206	C	T	14949206	2	4	128	1	0	0	0	0	0	0	0	1	5838	842	30	2		2	FGD5	3	14949206	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	38	14949206	183073224	69	9582											
OSBPL10	114884	genome.wustl.edu	37	chr3	31871582	31871582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactcttggctcttcgggCggctgcaggcgacttgtgat	14	11	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:31871582C>T	ENST00000396556.2	-	4	801	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	227					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCTCTTCGGGCGGCTGCAGGC	0.587																																																	0								ENSG00000144645						62	55	57					3																	31871582		2203	4300	6503	OSBPL10	SO:0001583	missense	0			-	HGNC	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.679G>A	3.37:g.31871582C>T	ENSP00000379804:p.Ala227Thr	Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	B4E212|Q9BTU5	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A227T	ENST00000396556.2	37	c.679	CCDS2651.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.079806	0.94050	.	.	ENSG00000144645	ENST00000396556;ENST00000428241	T;T	0.44083	0.93;0.93	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	L	0.59436	1.845	0.80722	D	1	P	0.52061	0.95	B	0.39258	0.295	T	0.24083	-1.0170	10	0.14252	T	0.57	-21.3896	14.865	0.70406	0.0:0.9312:0.0:0.0688	.	227	Q9BXB5	OSB10_HUMAN	T	227;6	ENSP00000379804:A227T;ENSP00000399200:A6T	ENSP00000379804:A227T	A	-	1	0	OSBPL10	31846586	1.000000	0.71417	0.929000	0.37066	0.996000	0.88848	6.829000	0.75314	1.471000	0.48121	0.561000	0.74099	GCC	-	NULL		0.587	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	protein_coding	OTTHUMT00000253165.2	C		-		31871582	-1	no_errors	ENST00000396556	ensembl	human	known	74_37	missense	SNP	0.998	T	T	31871582	C	T	31871582	3	4	128	1	0	0	0	0	1	0	0	0	11277	768	27	1	1651	1	OSBPL10	3	31871582	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	16922376	31871582	166150848	70	9583											
DLEC1	9940	genome.wustl.edu	37	chr3	38136528	38136528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctaagcccccacacagAccacgagttcatcctgagct	8	15	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:38136528A>G	ENST00000308059.6	+	13	2099	c.2078A>G	c.(2077-2079)gAc>gGc	p.D693G	DLEC1_ENST00000452631.2_Missense_Mutation_p.D693G|DLEC1_ENST00000346219.3_Missense_Mutation_p.D693G					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCCACACAGACCACGAGTTC	0.522																																																	0								ENSG00000008226						82	89	87					3																	38136528		2026	4186	6212	DLEC1	SO:0001583	missense	0			-	HGNC	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2078A>G	3.37:g.38136528A>G	ENSP00000308597:p.Asp693Gly	Somatic	0	21	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33		Missense_Mutation	SNP							superfamily_PapD-like	p.D693G	ENST00000308059.6	37	c.2078	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457317	0.63401	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05513	3.44;3.43;3.66	5.25	4.01	0.46588	.	0.115140	0.56097	D	0.000023	T	0.19846	0.0477	M	0.71581	2.175	0.49798	D	0.999821	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.74023	0.982;0.925;0.982	T	0.00465	-1.1723	10	0.39692	T	0.17	-28.2272	10.1531	0.42805	0.8504:0.0:0.0:0.1496	.	693;693;693	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	G	693	ENSP00000308597:D693G;ENSP00000315914:D693G;ENSP00000410427:D693G	ENSP00000308597:D693G	D	+	2	0	DLEC1	38111532	1.000000	0.71417	0.977000	0.42913	0.279000	0.26890	6.594000	0.74104	1.955000	0.56771	0.533000	0.62120	GAC	-	NULL		0.522	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	protein_coding	OTTHUMT00000253745.3	A	NM_007337	-		38136528	1	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38136528	A	G	38136528	3	3	128	1	0	0	0	0	1	0	0	0	4554	275	10	5	2128	5	DLEC1	3	38136528	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	6264946	38136528	159885902	71	9584											
ACVR2B	93	genome.wustl.edu	37	chr3	38524696	38524696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaggctcgcttgtccgCgggctgtgtggaggagcggg	20	9	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:38524696C>T	ENST00000352511.4	+	11	1884	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CGCTTGTCCGCGGGCTGTGTG	0.602																																																	0								ENSG00000114739						186	163	171					3																	38524696		2203	4300	6503	ACVR2B	SO:0001583	missense	0			-	HGNC	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.1412C>T	3.37:g.38524696C>T	ENSP00000340361:p.Ala471Val	Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q4VAV0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.A471V	ENST00000352511.4	37	c.1412	CCDS2679.1	3	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329678	0.60743	.	.	ENSG00000114739	ENST00000352511	D	0.94330	-3.4	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96846	0.8970	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.97246	0.9894	10	0.87932	D	0	.	18.8582	0.92262	0.0:1.0:0.0:0.0	.	471	Q13705	AVR2B_HUMAN	V	471	ENSP00000340361:A471V	ENSP00000340361:A471V	A	+	2	0	ACVR2B	38499700	1.000000	0.71417	0.197000	0.23402	0.219000	0.24729	7.651000	0.83577	2.674000	0.91012	0.650000	0.86243	GCG	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	protein_coding	OTTHUMT00000254059.3	C	NM_001106	-		38524696	1	no_errors	ENST00000352511	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38524696	C	T	38524696	3	4	128	1	0	0	0	0	1	0	0	0	224	768	27	1	1454	1	ACVR2B	3	38524696	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	388168	38524696	159497734	72	9585											
CELSR3	1951	genome.wustl.edu	37	chr3	48688438	48688438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggggtgcacatgagcgcGaggtggagcccacagggtag	19	8	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:48688438G>A	ENST00000164024.4	-	15	6537	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	CELSR3_ENST00000544264.1_Missense_Mutation_p.S2086L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2086	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		ACATGAGCGCGAGGTGGAGCC	0.652																																																	0								ENSG00000008300						48	50	49					3																	48688438		2202	4296	6498	CELSR3	SO:0001583	missense	0			-	HGNC	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.6257C>T	3.37:g.48688438G>A	ENSP00000164024:p.Ser2086Leu	Somatic	0	44	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	O75092	Missense_Mutation	SNP							pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S2086L	ENST00000164024.4	37	c.6257	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007397	0.93287	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.63255	-0.03;-0.03	5.44	5.44	0.79542	EGF-like, laminin (3);	.	.	.	.	D	0.85673	0.5751	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.977;0.998	D	0.89487	0.3754	9	0.87932	D	0	.	19.2788	0.94042	0.0:0.0:1.0:0.0	.	2086;2156	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	2086	ENSP00000164024:S2086L;ENSP00000445694:S2086L	ENSP00000164024:S2086L	S	-	2	0	CELSR3	48663442	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.567000	0.86603	0.655000	0.94253	TCG	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	G	NM_001407	-		48688438	-1	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48688438	G	A	48688438	3	1	128	1	0	0	0	0	1	0	0	0	3225	1059	37	1	3765	1	CELSR3	3	48688438	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	10163742	48688438	149333992	73	9586											
STAB1	23166	genome.wustl.edu	37	chr3	52554459	52554459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctcgcattgtgcagcGgcacttgccctttgagggtg	14	10	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:52554459G>A	ENST00000321725.6	+	53	5619	c.5543G>A	c.(5542-5544)cGg>cAg	p.R1848Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1848	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATTGTGCAGCGGCACTTGCCC	0.607																																																	0								ENSG00000010327						70	65	67					3																	52554459		2203	4300	6503	STAB1	SO:0001583	missense	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5543G>A	3.37:g.52554459G>A	ENSP00000312946:p.Arg1848Gln	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1848Q	ENST00000321725.6	37	c.5543	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.940252	0.97128	.	.	ENSG00000010327	ENST00000321725	D	0.90620	-2.7	6.07	6.07	0.98685	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.71581	2.175	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.94874	0.8033	10	0.72032	D	0.01	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	1848	Q9NY15	STAB1_HUMAN	Q	1848	ENSP00000312946:R1848Q	ENSP00000312946:R1848Q	R	+	2	0	STAB1	52529499	0.995000	0.38212	0.997000	0.53966	0.969000	0.65631	5.770000	0.68873	2.884000	0.98904	0.655000	0.94253	CGG	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	G	NM_015136	-		52554459	1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52554459	G	A	52554459	3	1	128	1	0	0	0	0	1	0	0	0	15244	1116	39	1	5753	1	STAB1	3	52554459	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3866021	52554459	145467971	74	9587											
TMPRSS7	344805	genome.wustl.edu	37	chr3	111769565	111769565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcactggctttgaagggAaaatttcaagcccatattac	7	9	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:111769565A>G	ENST00000452346.2	+	9	1141	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.K254E			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	380	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTTTGAAGGGAAAATTTCAAG	0.403																																																	0								ENSG00000176040						213	197	202					3																	111769565		1848	4092	5940	TMPRSS7	SO:0001583	missense	0			-	HGNC	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1138A>G	3.37:g.111769565A>G	ENSP00000398236:p.Lys380Glu	Somatic	0	102	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	67	29.47	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.K254E	ENST00000452346.2	37	c.760		3	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482995	0.44147	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.32988	1.43;1.43	4.86	4.86	0.63082	CUB (4);	0.303860	0.31577	N	0.007403	T	0.20251	0.0487	N	0.22421	0.69	0.27112	N	0.962343	P;B	0.35656	0.514;0.228	B;B	0.36030	0.216;0.083	T	0.12344	-1.0551	10	0.15499	T	0.54	.	12.2556	0.54621	1.0:0.0:0.0:0.0	.	380;254	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	E	380;368;354;254	ENSP00000398236:K380E;ENSP00000411645:K254E	ENSP00000411645:K254E	K	+	1	0	TMPRSS7	113252255	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.614000	0.61183	1.946000	0.56461	0.377000	0.23210	AAA	-	pfam_CUB_dom,superfamily_CUB_dom,pfscan_CUB_dom		0.403	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	protein_coding	OTTHUMT00000347592.2	A	XM_293599	-		111769565	1	no_errors	ENST00000419127	ensembl	human	known	74_37	missense	SNP	1.000	G	G	111769565	A	G	111769565	3	3	128	1	0	0	0	0	1	0	0	0	16259	247	9	5	782	5	TMPRSS7	3	111769565	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	59215106	111769565	86252865	75	9588											
IGSF11	152404	genome.wustl.edu	37	chr3	118621566	118621566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagtcttatgttgacccGggaccagatgggtcccatta	11	11	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:118621566G>A	ENST00000393775.2	-	7	1402	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	IGSF11_ENST00000489689.1_Missense_Mutation_p.P342L|IGSF11_ENST00000425327.2_Missense_Mutation_p.P365L|IGSF11_ENST00000491903.1_Missense_Mutation_p.P338L|IGSF11_ENST00000354673.2_Missense_Mutation_p.P365L|IGSF11_ENST00000441144.2_Missense_Mutation_p.P341L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	366					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGTTGACCCGGGACCAGATG	0.522																																																	0								ENSG00000144847						117	103	108					3																	118621566		2203	4300	6503	IGSF11	SO:0001583	missense	0			-	HGNC	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1097C>T	3.37:g.118621566G>A	ENSP00000377370:p.Pro366Leu	Somatic	0	37	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P366L	ENST00000393775.2	37	c.1097	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355091	0.24512	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;D;D;T;D;D	0.87571	-1.37;-1.57;-2.27;-1.37;-2.24;-2.16	5.28	4.39	0.52855	.	1.163760	0.06062	N	0.658464	T	0.76492	0.3995	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.25667	0.08;0.131;0.131;0.08;0.08	B;B;B;B;B	0.20384	0.008;0.029;0.018;0.013;0.013	T	0.55730	-0.8095	10	0.20519	T	0.43	.	12.221	0.54433	0.0828:0.0:0.9172:0.0	.	338;341;365;342;366	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	L	365;366;342;365;341;338	ENSP00000406092:P365L;ENSP00000377370:P366L;ENSP00000420486:P342L;ENSP00000346700:P365L;ENSP00000401240:P341L;ENSP00000417413:P338L	ENSP00000346700:P365L	P	-	2	0	IGSF11	120104256	1.000000	0.71417	0.111000	0.21465	0.105000	0.19272	6.806000	0.75195	1.440000	0.47531	0.655000	0.94253	CCG	-	NULL		0.522	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	protein_coding	OTTHUMT00000355075.2	G		-		118621566	-1	no_errors	ENST00000393775	ensembl	human	known	74_37	missense	SNP	0.995	A	A	118621566	G	A	118621566	3	1	128	1	0	0	0	0	1	0	0	0	7600	1116	39	1	202	1	IGSF11	3	118621566	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	6852001	118621566	79400864	76	9589											
STXBP5L	9515	genome.wustl.edu	37	chr3	121132018	121132018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcagcctacctagtcttCgcccaatgttggatgttaat	7	11	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:121132018C>T	ENST00000273666.6	+	25	3305	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R988C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1012					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)		ACCTAGTCTTCGCCCAATGTT	0.348																																																	0								ENSG00000145087						144	129	133					3																	121132018		1904	4121	6025	STXBP5L	SO:0001583	missense	0			-	HGNC	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.3034C>T	3.37:g.121132018C>T	ENSP00000273666:p.Arg1012Cys	Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	40	28.57	Q4G1B4|Q6PIC3	Missense_Mutation	SNP							pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.R1012C	ENST00000273666.6	37	c.3034	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520814	0.85495	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.49432	0.78;0.78;0.78	6.08	6.08	0.98989	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78919	-0.2014	10	0.87932	D	0	-8.6419	20.6721	0.99693	0.0:1.0:0.0:0.0	.	988;1012	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	1012;988;955	ENSP00000273666:R1012C;ENSP00000420019:R988C;ENSP00000420167:R955C	ENSP00000273666:R1012C	R	+	1	0	STXBP5L	122614708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.904000	0.63279	2.894000	0.99253	0.591000	0.81541	CGC	-	pfam_Lgl_C_dom		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	protein_coding	OTTHUMT00000355256.3	C		-		121132018	1	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121132018	C	T	121132018	3	4	128	1	0	0	0	0	1	0	0	0	15364	884	31	1	3128	1	STXBP5L	3	121132018	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2510452	121132018	76890412	77	9590											
KALRN	8997	genome.wustl.edu	37	chr3	124281829	124281829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttggtgtctggtccgtaCcaccgaacggagcccgccct	13	14	1	0	rs202002851	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:124281829C>T	ENST00000393496.1	+	2	352	c.188C>T	c.(187-189)aCc>aTc	p.T63I	KALRN_ENST00000360013.3_Missense_Mutation_p.T1690I			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1690	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGGTCCGTACCACCGAACGG	0.657																																																	0								ENSG00000160145						40	46	44					3																	124281829		2060	4206	6266	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.188C>T	3.37:g.124281829C>T	ENSP00000377134:p.Thr63Ile	Somatic	0	59	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T1690I	ENST00000393496.1	37	c.5069		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.244250|4.244250	0.79912|0.79912	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496	.|T;T	.|0.61040	.|0.14;0.84	4.64|4.64	4.64|4.64	0.57946|0.57946	.|Src homology-3 domain (3);	.|0.062141	.|0.64402	.|D	.|0.000005	T|T	0.69378|0.69378	0.3104|0.3104	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.952	.|D;P	.|0.87578	.|0.998;0.601	T|T	0.63906|0.63906	-0.6531|-0.6531	5|10	.|0.23302	.|T	.|0.38	.|.	18.089|18.089	0.89468|0.89468	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|63;1690	.|O60229-5;O60229	.|.;KALRN_HUMAN	S|I	1659|1690;63	.|ENSP00000353109:T1690I;ENSP00000377134:T63I	.|ENSP00000353109:T1690I	P|T	+|+	1|2	0|0	KALRN|KALRN	125764519|125764519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	7.606000|7.606000	0.82863|0.82863	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	CCA|ACC	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.657	KALRN-002	NOVEL	basic	protein_coding	KALRN	protein_coding	OTTHUMT00000258840.2	C	NM_003947	-		124281829	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124281829	C	T	124281829	3	4	128	1	0	0	0	0	1	0	0	0	7977	507	18	2	5270	2	KALRN	3	124281829	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3149811	124281829	73740601	78	9591											
UMPS	7372	genome.wustl.edu	37	chr3	124458975	124458975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgggcctgcctttgcatCgggggtgcctccttattgcg	14	11	0	0	rs377750200		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:124458975C>T	ENST00000232607.2	+	4	1193	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	UMPS_ENST00000538242.1_Missense_Mutation_p.R185W|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.R271W	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	363	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GCCTTTGCATCGGGGGTGCCT	0.567																																																	0								ENSG00000114491	C	TRP/ARG	0,4406		0,0,2203	122	124	123		1087	6.2	1	3		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	UMPS	NM_000373.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	363/481	124458975	1,13005	2203	4300	6503	UMPS	SO:0001583	missense	0			-	HGNC		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1087C>T	3.37:g.124458975C>T	ENSP00000232607:p.Arg363Trp	Somatic	0	35	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	35	31.37	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP							pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom	p.R363W	ENST00000232607.2	37	c.1087	CCDS3029.1	3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022566	0.93462	0.0	1.16E-4	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242	T;T;T	0.69685	-0.42;-0.42;-0.42	6.17	6.17	0.99709	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.057044	0.64402	D	0.000001	D	0.86781	0.6015	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89383	0.3683	10	0.87932	D	0	-16.3139	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	185;363	B5LY70;P11172	.;UMPS_HUMAN	W	363;271;185	ENSP00000232607:R363W;ENSP00000443577:R271W;ENSP00000444988:R185W	ENSP00000232607:R363W	R	+	1	2	UMPS	125941665	0.999000	0.42202	0.952000	0.39060	0.962000	0.63368	4.182000	0.58310	2.941000	0.99782	0.655000	0.94253	CGG	-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase		0.567	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	protein_coding	OTTHUMT00000355271.1	C	NM_000373	-		124458975	1	no_errors	ENST00000232607	ensembl	human	known	74_37	missense	SNP	0.998	T	T	124458975	C	T	124458975	3	4	128	1	0	0	0	0	1	0	0	0	16988	875	31	1	1101	1	UMPS	3	124458975	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	177146	124458975	73563455	79	9592											
PLXNA1	5361	genome.wustl.edu	37	chr3	126748378	126748378	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagtccctcagcagataCggtgaggggccaggcagcgg	15	12	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:126748378C>T	ENST00000393409.2	+	26	4869	c.4869C>T	c.(4867-4869)taC>taT	p.Y1623Y	PLXNA1_ENST00000251772.4_Splice_Site_p.Y1600Y	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1623					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCAGCAGATACGGTGAGGGGC	0.682																																																	0								ENSG00000114554						101	90	94					3																	126748378		2203	4300	6503	PLXNA1	SO:0001630	splice_region_variant	0			-	HGNC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4870+1C>T	3.37:g.126748378C>T		Somatic	0	51	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00		Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Y1623	ENST00000393409.2	37	c.4869	CCDS33847.2	3																																																																																			-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	protein_coding	OTTHUMT00000356451.1	C	NM_032242	-	Silent	126748378	1	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	SNP	0.967	T	T	126748378	C	T	126748378	5	4	128	1	0	0	0	0	0	0	1	0	12121	550	19	1	4971	1	PLXNA1	3	126748378	Splice_Site	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2289403	126748378	71274052	80	9593											
COPG	22820	genome.wustl.edu	37	chr3	128990636	128990636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcagtgccagagttcCgcggtcttgggcccctcttc	13	14	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:128990636C>T	ENST00000314797.6	+	19	1974	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	624	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCCAGAGTTCCGCGGTCTTGG	0.547																																																	0								ENSG00000181789						86	74	78					3																	128990636		2203	4300	6503	COPG1	SO:0001583	missense	0			-	HGNC	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1870C>T	3.37:g.128990636C>T	ENSP00000325002:p.Arg624Cys	Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	38	42.42	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.R624C	ENST00000314797.6	37	c.1870	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672938	0.29693	.	.	ENSG00000181789	ENST00000314797	T	0.30981	1.51	5.68	-0.817	0.10836	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);	1.470450	0.03966	N	0.290884	T	0.17066	0.0410	N	0.08118	0	0.21967	N	0.99945	B	0.02656	0.0	B	0.01281	0.0	T	0.28618	-1.0038	10	0.51188	T	0.08	-25.4288	7.0843	0.25249	0.5824:0.2785:0.0:0.1391	.	624	Q9Y678	COPG_HUMAN	C	624	ENSP00000325002:R624C	ENSP00000325002:R624C	R	+	1	0	COPG	130473326	0.012000	0.17670	0.007000	0.13788	0.004000	0.04260	0.251000	0.18257	-0.153000	0.11137	-0.175000	0.13238	CGC	-	pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu		0.547	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	protein_coding	OTTHUMT00000355456.1	C	NM_016128	-		128990636	1	no_errors	ENST00000314797	ensembl	human	known	74_37	missense	SNP	0.023	T	T	128990636	C	T	128990636	3	4	128	1	0	0	0	0	1	0	0	0	3733	652	23	1	1944	1	COPG	3	128990636	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2242258	128990636	69031794	81	9594											
GRK7	131890	genome.wustl.edu	37	chr3	141499460	141499460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacaacgtgggcacgcGtggcctggacatgagccggg	15	12	1	1	rs370398949		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:141499460G>A	ENST00000264952.2	+	2	994	c.857G>A	c.(856-858)cGt>cAt	p.R286H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GTGGGCACGCGTGGCCTGGAC	0.557																																																	0								ENSG00000114124	G	HIS/ARG	0,4406		0,0,2203	106	99	101		857	1.8	0.4	3		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRK7	NM_139209.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	286/554	141499460	1,13005	2203	4300	6503	GRK7	SO:0001583	missense	0			-	HGNC		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.857G>A	3.37:g.141499460G>A	ENSP00000264952:p.Arg286His	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.R286H	ENST00000264952.2	37	c.857	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093576	0.36952	0.0	1.16E-4	ENSG00000114124	ENST00000264952	T	0.66460	-0.21	4.79	1.78	0.24846	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120019	0.56097	D	0.000030	T	0.63283	0.2498	L	0.38733	1.17	0.21697	N	0.99958	D	0.76494	0.999	P	0.59643	0.861	T	0.53718	-0.8399	10	0.66056	D	0.02	-6.1678	2.7919	0.05390	0.1573:0.1453:0.5472:0.1503	.	286	Q8WTQ7	GRK7_HUMAN	H	286	ENSP00000264952:R286H	ENSP00000264952:R286H	R	+	2	0	GRK7	142982150	0.754000	0.28360	0.380000	0.26093	0.081000	0.17604	1.652000	0.37313	0.432000	0.26286	-0.136000	0.14681	CGT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.557	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	protein_coding	OTTHUMT00000353168.1	G	NM_139209	-		141499460	1	no_errors	ENST00000264952	ensembl	human	known	74_37	missense	SNP	0.070	A	A	141499460	G	A	141499460	3	1	128	1	0	0	0	0	1	0	0	0	6796	1145	40	1	863	1	GRK7	3	141499460	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	12508824	141499460	56522970	82	9595											
CPB1	1360	genome.wustl.edu	37	chr3	148558511	148558511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatgtggtggaggctcAgtttgatagccgggttcgtg	17	5	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:148558511A>G	ENST00000491148.1	+	5	645	c.311A>G	c.(310-312)cAg>cGg	p.Q104R	CPB1_ENST00000282957.4_Missense_Mutation_p.Q104R			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	104						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTGGAGGCTCAGTTTGATAGC	0.438																																																	0								ENSG00000153002						158	160	159					3																	148558511		2203	4300	6503	CPB1	SO:0001583	missense	0			-	HGNC	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.311A>G	3.37:g.148558511A>G	ENSP00000417222:p.Gln104Arg	Somatic	0	106	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	83	25.89	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.Q104R	ENST00000491148.1	37	c.311	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826070	0.50739	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.15834	2.39;2.39;2.39	5.15	5.15	0.70609	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.135492	0.53938	D	0.000049	T	0.44726	0.1307	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.50013	-0.8877	10	0.87932	D	0	.	15.0077	0.71524	1.0:0.0:0.0:0.0	.	104	P15086	CBPB1_HUMAN	R	104	ENSP00000417222:Q104R;ENSP00000282957:Q104R;ENSP00000419427:Q104R	ENSP00000282957:Q104R	Q	+	2	0	CPB1	150041201	1.000000	0.71417	0.997000	0.53966	0.205000	0.24178	8.817000	0.91985	1.934000	0.56057	0.533000	0.62120	CAG	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.438	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	protein_coding	OTTHUMT00000355928.1	A	NM_001871	-		148558511	1	no_errors	ENST00000282957	ensembl	human	known	74_37	missense	SNP	1.000	G	G	148558511	A	G	148558511	3	3	128	1	0	0	0	0	1	0	0	0	3798	188	7	5	325	5	CPB1	3	148558511	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	7059051	148558511	49463919	83	9596											
CPA3	1359	genome.wustl.edu	37	chr3	148601470	148601470	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagtccgagaaagagacGaaagctgtcactaatttcat	9	9	2	3	rs200538548		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:148601470G>A	ENST00000296046.3	+	9	901	c.849G>A	c.(847-849)acG>acA	p.T283T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	283					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAAAGAGACGAAAGCTGTCA	0.448																																																	0								ENSG00000163751	G		0,4406		0,0,2203	89	84	86		849	-5.6	1	3		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPA3	NM_001870.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		283/418	148601470	1,13005	2203	4300	6503	CPA3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.849G>A	3.37:g.148601470G>A		Somatic	0	39	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	Q96E94	Silent	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.T283	ENST00000296046.3	37	c.849	CCDS3138.1	3																																																																																			-	pfam_Peptidase_M14,smart_Peptidase_M14		0.448	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	protein_coding	OTTHUMT00000355974.1	G	NM_001870	rs200538548		148601470	1	no_errors	ENST00000296046	ensembl	human	known	74_37	silent	SNP	0.972	A	A	148601470	G	A	148601470	2	1	128	1	0	0	0	0	0	0	0	1	3793	1045	37	1		1	CPA3	3	148601470	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	42959	148601470	49420960	84	9597											
NMD3	51068	genome.wustl.edu	37	chr3	160960405	160960405	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatagtccaagatatAaaacgtgctgcaggtgctgg	12	8	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:160960405A>T	ENST00000460469.1	+	10	1436	c.981A>T	c.(979-981)atA>atT	p.I327I	NMD3_ENST00000351193.2_Silent_p.I327I|NMD3_ENST00000472947.1_Silent_p.I327I			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	327					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCCAAGATATAAAACGTGCTG	0.408																																																	0								ENSG00000169251						91	87	88					3																	160960405		2203	4300	6503	NMD3	SO:0001819	synonymous_variant	0			-	HGNC	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.981A>T	3.37:g.160960405A>T		Somatic	0	65	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	50	30.56	D3DNM7|Q9Y2Z6	Silent	SNP							pfam_NMD3	p.I327	ENST00000460469.1	37	c.981	CCDS3194.1	3																																																																																			-	NULL		0.408	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	protein_coding	OTTHUMT00000353114.1	A	NM_015938	-		160960405	1	no_errors	ENST00000351193	ensembl	human	known	74_37	silent	SNP	0.520	T	T	160960405	A	T	160960405	2	4	128	1	0	0	0	0	0	0	0	1	10490	352	13	5		5	NMD3	3	160960405	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	12358935	160960405	37062025	85	9598											
BCHE	590	genome.wustl.edu	37	chr3	165547451	165547451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcccatccattctggccaCggaagtttggaggatcggtg	12	11	1	0	rs369712135		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:165547451C>T	ENST00000264381.3	-	2	1537	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	457					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)	ATTCTGGCCACGGAAGTTTGG	0.398																																																	0								ENSG00000114200	C		1,4405	2.1+/-5.4	0,1,2202	97	101	100		1371	3.1	1	3		100	0,8600		0,0,4300	no	coding-synonymous	BCHE	NM_000055.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		457/603	165547451	1,13005	2203	4300	6503	BCHE	SO:0001819	synonymous_variant	0			-	HGNC	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.1371G>A	3.37:g.165547451C>T		Somatic	0	68	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	47	26.56	A8K7P8	Silent	SNP							pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.P457	ENST00000264381.3	37	c.1371	CCDS3198.1	3																																																																																			-	pfam_CarbesteraseB		0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	protein_coding	OTTHUMT00000350254.1	C		-		165547451	-1	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	SNP	0.995	T	T	165547451	C	T	165547451	2	4	128	1	0	0	0	0	0	0	0	1	1358	523	19	1		1	BCHE	3	165547451	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4587046	165547451	32474979	86	9599											
FXR1	8087	genome.wustl.edu	37	chr3	180680695	180680695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaacagctaagaatggaaCgcctacagattgatgaacag	10	7	0	5			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:180680695C>T	ENST00000357559.4	+	12	1486	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	FXR1_ENST00000480918.1_Missense_Mutation_p.R355C|FXR1_ENST00000445140.2_Missense_Mutation_p.R368C|FXR1_ENST00000305586.7_Missense_Mutation_p.R283C|FXR1_ENST00000491062.1_Missense_Mutation_p.R319C|FXR1_ENST00000468861.1_Missense_Mutation_p.R283C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	368					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAGAATGGAACGCCTACAGAT	0.388																																																	0								ENSG00000114416						155	160	158					3																	180680695		2203	4300	6503	FXR1	SO:0001583	missense	0			-	HGNC	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1102C>T	3.37:g.180680695C>T	ENSP00000350170:p.Arg368Cys	Somatic	0	72	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	62	27.06	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP							pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1	p.R368C	ENST00000357559.4	37	c.1102	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853650	0.71719	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.38	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.68952	2.095	0.80722	D	1	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	0.79784	0.975;0.984;0.984;0.959;0.921;0.993	T	0.73448	-0.3979	10	0.87932	D	0	-39.738	11.1738	0.48588	0.3929:0.6071:0.0:0.0	.	355;319;283;283;368;368	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	C	368;283;319;283;368;355	ENSP00000350170:R368C;ENSP00000307633:R283C;ENSP00000420643:R319C;ENSP00000420515:R283C;ENSP00000388828:R368C;ENSP00000418097:R355C	ENSP00000307633:R283C	R	+	1	0	FXR1	182163389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.120000	0.41968	2.682000	0.91365	0.591000	0.81541	CGC	-	pfam_Frag_X_MRP_fam		0.388	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	protein_coding	OTTHUMT00000350265.5	C		-		180680695	1	no_errors	ENST00000357559	ensembl	human	known	74_37	missense	SNP	1.000	T	T	180680695	C	T	180680695	3	4	128	1	0	0	0	0	1	0	0	0	6117	536	19	1	1148	1	FXR1	3	180680695	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	15133244	180680695	17341735	87	9600											
MAP3K13	9175	genome.wustl.edu	37	chr3	185181425	185181425	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggttagatgaagaactgattCgaaggcgcagagaagagctc	14	6	0	6			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:185181425C>G	ENST00000265026.3	+	8	1700	c.1366C>G	c.(1366-1368)Cga>Gga	p.R456G	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R312G|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R312G|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R249G|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R456G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R456R(2)|p.R456*(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAACTGATTCGAAGGCGCAG	0.468																																																	4	Substitution - Nonsense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)						ENSG00000073803						125	111	116					3																	185181425		2203	4300	6503	MAP3K13	SO:0001583	missense	0			-	HGNC	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1366C>G	3.37:g.185181425C>G	ENSP00000265026:p.Arg456Gly	Somatic	0	72	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	69	21.59		Missense_Mutation	SNP							pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R456G	ENST00000265026.3	37	c.1366	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258730	0.39896	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.79352	-1.26;-1.19;-1.13;-1.13;-1.19;-0.99	5.82	3.83	0.44106	Protein kinase-like domain (1);	0.070231	0.64402	D	0.000018	T	0.80737	0.4680	L	0.32530	0.975	0.80722	D	1	D;D;D	0.59767	0.986;0.986;0.975	P;P;P	0.60473	0.875;0.875;0.753	D	0.83925	0.0303	10	0.87932	D	0	.	16.4722	0.84114	0.2502:0.7498:0.0:0.0	.	312;249;456	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	G	249;456;312;312;456;201	ENSP00000411483:R249G;ENSP00000399910:R456G;ENSP00000409325:R312G;ENSP00000439257:R312G;ENSP00000265026:R456G;ENSP00000415712:R201G	ENSP00000265026:R456G	R	+	1	2	MAP3K13	186664119	1.000000	0.71417	0.918000	0.36340	0.408000	0.30992	4.054000	0.57434	1.428000	0.47296	0.655000	0.94253	CGA	-	pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom		0.468	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	protein_coding	OTTHUMT00000345268.1	C	NM_004721	-		185181425	1	no_errors	ENST00000265026	ensembl	human	known	74_37	missense	SNP	0.999	G	G	185181425	C	G	185181425	3	3	128	1	0	0	0	0	1	0	0	0	9249	876	31	4	1392	4	MAP3K13	3	185181425	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4500730	185181425	12841005	88	9601											
IGF2BP2	10644	genome.wustl.edu	37	chr3	185407144	185407144	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccccacaggcacgtaccGggactgggtctgcttagtga	13	12	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:185407144G>A	ENST00000382199.2	-	6	771	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	IGF2BP2_ENST00000346192.3_Splice_Site_p.R226W|IGF2BP2_ENST00000457616.2_Splice_Site_p.R232W|IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000421047.2_Splice_Site_p.R169W	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	226	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGCACGTACCGGGACTGGGTC	0.557																																																	0								ENSG00000073792						80	76	78					3																	185407144		2203	4300	6503	IGF2BP2	SO:0001630	splice_region_variant	0			-	HGNC	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.677+1C>T	3.37:g.185407144G>A		Somatic	0	56	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	30	33.33	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.R226W	ENST00000382199.2	37	c.676	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857326	0.91433	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.51	4.51	0.55191	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.056144	0.64402	D	0.000001	T	0.46464	0.1394	L	0.52126	1.63	0.53688	D	0.999977	D;D;D;D;P;D	0.76494	0.999;0.999;0.999;0.999;0.817;0.999	D;D;D;D;B;D	0.74674	0.964;0.964;0.964;0.964;0.435;0.984	T	0.38628	-0.9652	10	0.87932	D	0	-12.338	10.9468	0.47306	0.0:0.0:0.6541:0.3459	.	163;163;169;232;226;226	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	W	226;169;232;226	ENSP00000371634:R226W;ENSP00000413787:R169W;ENSP00000410242:R232W;ENSP00000320204:R226W	ENSP00000320204:R226W	R	-	1	2	IGF2BP2	186889838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.902000	0.75699	2.745000	0.94114	0.655000	0.94253	CGG	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.557	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	protein_coding	OTTHUMT00000157087.2	G	NM_006548	-	Missense_Mutation	185407144	-1	no_errors	ENST00000382199	ensembl	human	known	74_37	missense	SNP	1.000	A	A	185407144	G	A	185407144	5	1	128	1	0	0	0	0	0	0	1	0	7576	1130	39	1	1167	1	IGF2BP2	3	185407144	Splice_Site	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	225719	185407144	12615286	89	9602											
KNG1	3827	genome.wustl.edu	37	chr3	186450325	186450325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccacctaccaagatttgCgtgggctgccccagagatat	9	13	0	2	rs201943382		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr3:186450325C>T	ENST00000265023.4	+	7	1004	c.792C>T	c.(790-792)tgC>tgT	p.C264C	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.C264C|KNG1_ENST00000447445.1_Silent_p.C228C|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CCAAGATTTGCGTGGGCTGCC	0.488													C|||	1	0.000199681	0	0	5008	,	,		21829	0		0.001	False		,,,				2504	0																0								ENSG00000113889						100	99	99					3																	186450325		2203	4300	6503	KNG1	SO:0001819	synonymous_variant	0			GMAF=0	HGNC		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.792C>T	3.37:g.186450325C>T		Somatic	0	61	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.59	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP							pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.C264	ENST00000265023.4	37	c.792	CCDS43183.1	3																																																																																			-	smart_Prot_inh_cystat		0.488	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	protein_coding	OTTHUMT00000317738.1	C	NM_001102416	rs201943382		186450325	1	no_errors	ENST00000265023	ensembl	human	known	74_37	silent	SNP	0.018	T	T	186450325	C	T	186450325	2	4	128	1	0	0	0	0	0	0	0	1	8429	776	27	1		1	KNG1	3	186450325	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1043181	186450325	11572105	90	9603											
D4S234E	27065	genome.wustl.edu	37	chr4	4411344	4411344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggccttcctcacctgcgtCgtcttcctggttgtctacaa	8	15	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:4411344C>T	ENST00000421177.2	+	8	2282	c.291C>T	c.(289-291)gtC>gtT	p.V97V	NSG1_ENST00000506380.1_Silent_p.V97V|NSG1_ENST00000504171.1_Silent_p.V58V|NSG1_ENST00000397958.1_Silent_p.V97V|NSG1_ENST00000433139.2_Silent_p.V97V|NSG1_ENST00000513555.1_Silent_p.V97V|NSG1_ENST00000505246.1_Silent_p.V97V			P42857	NSG1_HUMAN		97					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCACCTGCGTCGTCTTCCTGG	0.612																																																	0								ENSG00000168824						195	150	166					4																	4411344		2203	4300	6503	NSG1	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000421177.2:c.291C>T	4.37:g.4411344C>T		Somatic	0	51	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B4DXC5|Q49AQ1	Silent	SNP							pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp	p.V97	ENST00000421177.2	37	c.291	CCDS3376.1	4																																																																																			-	pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp		0.612	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSG1	protein_coding	OTTHUMT00000246799.1	C		-		4411344	1	no_errors	ENST00000397958	ensembl	human	known	74_37	silent	SNP	0.996	T	T	4411344	C	T	4411344	2	4	128	1	0	0	0	0	0	0	0	1	4216	871	31	1		1	D4S234E	4	4411344	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		4411344	186742932	91	9604											
MAN2B2	23324	genome.wustl.edu	37	chr4	6602448	6602448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttccctggagtccgcGtcacagatgaggcgggccac	14	12	1	2	rs186250763		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:6602448G>A	ENST00000285599.3	+	10	1540	c.1504G>A	c.(1504-1506)Gtc>Atc	p.V502I	MAN2B2_ENST00000504248.1_Missense_Mutation_p.V451I	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	502					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGGAGTCCGCGTCACAGATGA	0.617																																																	0								ENSG00000013288						88	74	79					4																	6602448		2203	4300	6503	MAN2B2	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1504G>A	4.37:g.6602448G>A	ENSP00000285599:p.Val502Ile	Somatic	0	40	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	Q66MP2|Q86T67	Missense_Mutation	SNP							pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.V502I	ENST00000285599.3	37	c.1504	CCDS33951.1	4	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.246	1.039524	0.19669	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	D;D	0.89617	-2.54;-2.54	4.67	1.81	0.25067	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.392363	0.25720	N	0.028744	D	0.83562	0.5281	L	0.50333	1.59	0.41438	D	0.987904	P;P;B	0.39480	0.539;0.675;0.174	B;B;B	0.38056	0.264;0.135;0.03	T	0.77887	-0.2420	10	0.52906	T	0.07	-21.7388	8.408	0.32627	0.0843:0.2936:0.6221:0.0	.	451;502;502	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	I	502;451	ENSP00000285599:V502I;ENSP00000423129:V451I	ENSP00000285599:V502I	V	+	1	0	MAN2B2	6653349	0.985000	0.35326	0.033000	0.17914	0.027000	0.11550	1.844000	0.39269	0.023000	0.15187	0.555000	0.69702	GTC	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom		0.617	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	protein_coding	OTTHUMT00000359106.2	G	NM_015274	rs186250763		6602448	1	no_errors	ENST00000285599	ensembl	human	known	74_37	missense	SNP	0.891	A	A	6602448	G	A	6602448	3	1	128	1	0	0	0	0	1	0	0	0	9219	1145	40	1	1542	1	MAN2B2	4	6602448	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2191104	6602448	184551828	92	9605											
TADA2B	93624	genome.wustl.edu	37	chr4	7055968	7055968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccagcctcaccaccccGctgcccccgctggacatctc	6	23	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:7055968G>A	ENST00000310074.7	+	2	639	c.450G>A	c.(448-450)ccG>ccA	p.P150P	TADA2B_ENST00000515646.1_Silent_p.P58P|TADA2B_ENST00000512388.1_Silent_p.P75P	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	150					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						TCACCACCCCGCTGCCCCCGC	0.657																																																	0								ENSG00000173011						14	16	15					4																	7055968		2052	4167	6219	TADA2B	SO:0001819	synonymous_variant	0			-	HGNC	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.450G>A	4.37:g.7055968G>A		Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P150	ENST00000310074.7	37	c.450	CCDS47007.1	4																																																																																			-	pirsf_Transcriptional_adaptor_2		0.657	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	protein_coding	OTTHUMT00000358687.2	G	NM_152293	-		7055968	1	no_errors	ENST00000310074	ensembl	human	known	74_37	silent	SNP	0.140	A	A	7055968	G	A	7055968	2	1	128	1	0	0	0	0	0	0	0	1	15518	1074	38	1		1	TADA2B	4	7055968	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	453520	7055968	184098308	93	9606											
ZNF518B	85460	genome.wustl.edu	37	chr4	10447632	10447632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttatttccaacatgagtCgcactggaattattgctcac	7	9	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:10447632C>T	ENST00000326756.3	-	3	759	c.321G>A	c.(319-321)gcG>gcA	p.A107A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	107					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						CAACATGAGTCGCACTGGAAT	0.413																																																	0								ENSG00000178163						98	105	103					4																	10447632		2203	4300	6503	ZNF518B	SO:0001819	synonymous_variant	0			-	HGNC	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.321G>A	4.37:g.10447632C>T		Somatic	0	27	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	Q96LN8	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A107	ENST00000326756.3	37	c.321	CCDS33960.1	4																																																																																			-	NULL		0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	protein_coding	OTTHUMT00000359040.1	C	NM_053042	-		10447632	-1	no_errors	ENST00000326756	ensembl	human	known	74_37	silent	SNP	0.000	T	T	10447632	C	T	10447632	2	4	128	1	0	0	0	0	0	0	0	1	17970	871	31	1		1	ZNF518B	4	10447632	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3391664	10447632	180706644	94	9607											
FRYL	285527	genome.wustl.edu	37	chr4	48569313	48569313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggcactaaaatggcatcGtatatccttcagtgtgtcag	9	8	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:48569313G>A	ENST00000503238.1	-	25	3120	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*	FRYL_ENST00000264319.7_De_novo_Start_OutOfFrame|FRYL_ENST00000507711.1_Nonsense_Mutation_p.R1041*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R1041*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R1041*			O94915	FRYL_HUMAN	FRY-like	1041					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						AAATGGCATCGTATATCCTTC	0.333																																																	0								ENSG00000075539						138	123	128					4																	48569313		1868	4112	5980	FRYL	SO:0001587	stop_gained	0			-	HGNC	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.3121C>T	4.37:g.48569313G>A	ENSP00000426064:p.Arg1041*	Somatic	0	83	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	84	25.00	O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP							superfamily_ARM-type_fold	p.R1041*	ENST00000503238.1	37	c.3121	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	46	12.952888	0.99709	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.36	4.52	0.55395	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5628	0.68153	0.0709:0.0:0.9291:0.0	.	.	.	.	X	1041	.	ENSP00000351113:R1041X	R	-	1	2	FRYL	48264070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.433000	0.80362	1.409000	0.46915	0.650000	0.86243	CGA	-	superfamily_ARM-type_fold		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	G		-		48569313	-1	no_errors	ENST00000358350	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	48569313	G	A	48569313	4	1	128	1	0	0	0	0	0	1	0	0	6066	1153	40	1	6068	1	FRYL	4	48569313	Nonsense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	38121681	48569313	142584963	95	9608											
KIAA1211	57482	genome.wustl.edu	37	chr4	57164406	57164406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactattctatgggaacccGggcattttcccatgacagta	8	11	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:57164406G>A	ENST00000504228.1	+	2	116	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	KIAA1211_ENST00000541073.1_5'UTR|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R4Q			Q6ZU35	K1211_HUMAN	KIAA1211	4										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATGGGAACCCGGGCATTTTCC	0.408																																																	0								ENSG00000109265						92	87	89					4																	57164406		1812	4090	5902	KIAA1211	SO:0001583	missense	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.11G>A	4.37:g.57164406G>A	ENSP00000423366:p.Arg4Gln	Somatic	0	124	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	102	29.66	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP							NULL	p.R4Q	ENST00000504228.1	37	c.11	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067944	0.76301	.	.	ENSG00000109265	ENST00000264229;ENST00000504228	T;T	0.21361	2.01;2.01	5.18	5.18	0.71444	.	.	.	.	.	T	0.48554	0.1506	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48547	-0.9026	9	0.87932	D	0	-26.7437	18.8905	0.92399	0.0:0.0:1.0:0.0	.	4	Q6ZU35	K1211_HUMAN	Q	4	ENSP00000264229:R4Q;ENSP00000423366:R4Q	ENSP00000264229:R4Q	R	+	2	0	KIAA1211	56859163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.981000	0.76166	2.707000	0.92482	0.655000	0.94253	CGG	-	NULL		0.408	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	G	NM_020722	-		57164406	1	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57164406	G	A	57164406	3	1	128	1	0	0	0	0	1	0	0	0	8217	1116	39	1	13	1	KIAA1211	4	57164406	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	8595093	57164406	133989870	96	9609											
UGT2B15	7366	genome.wustl.edu	37	chr4	69528859	69528859	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaactcttccatttccTgtgaagaaagaatttgttct	6	9	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:69528859T>C	ENST00000338206.5	-	3	883		c.e3-2			NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15						cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TTCCATTTCCTGTGAAGAAAG	0.388																																																	0								ENSG00000196620						74	66	68					4																	69528859		2105	4113	6218	UGT2B15	SO:0001630	splice_region_variant	0			-	HGNC	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.874-2A>G	4.37:g.69528859T>C		Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Splice_Site	SNP							-	e3-2	ENST00000338206.5	37	c.874-2	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	.	10.86	1.470902	0.26423	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.54	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5742	0.33587	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B15	69211454	1.000000	0.71417	0.933000	0.37362	0.407000	0.30961	6.928000	0.75846	1.167000	0.42706	0.374000	0.22700	.	-	-		0.388	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	protein_coding	OTTHUMT00000365172.1	T	NM_001076	-	Intron	69528859	-1	no_errors	ENST00000338206	ensembl	human	known	74_37	splice_site	SNP	0.998	C	C	69528859	T	C	69528859	5	2	128	1	0	0	0	0	0	0	1	0	16965	1594	55	5	2353	5	UGT2B15	4	69528859	Splice_Site	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	12364453	69528859	121625417	97	9610											
MTHFD2L	441024	genome.wustl.edu	37	chr4	75040309	75040309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaatcatgggtttcccTtggaaacagaagacctcacc	10	10	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:75040309T>C	ENST00000395759.2	+	2	257	c.230T>C	c.(229-231)cTt>cCt	p.L77P	MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.L19P|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.L19P	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	77					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGGGTTTCCCTTGGAAACAGA	0.428																																																	0								ENSG00000163738						92	92	92					4																	75040309		2203	4300	6503	MTHFD2L	SO:0001583	missense	0			-	HGNC	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.230T>C	4.37:g.75040309T>C	ENSP00000379108:p.Leu77Pro	Somatic	0	113	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	91	24.17	Q6P079|Q8N560	Missense_Mutation	SNP							pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L77P	ENST00000395759.2	37	c.230	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698398	0.48307	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.30981	1.94;1.51;1.51;1.93	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.275863	0.37393	N	0.002120	T	0.35566	0.0936	L	0.48642	1.525	0.80722	D	1	P;P	0.41624	0.757;0.731	P;B	0.46885	0.53;0.3	T	0.05305	-1.0893	10	0.37606	T	0.19	-25.162	13.3557	0.60627	0.0:0.0:0.0:1.0	.	77;19	Q9H903;Q9H903-3	MTD2L_HUMAN;.	P	77;19;19;19	ENSP00000379108:L77P;ENSP00000330982:L19P;ENSP00000352012:L19P;ENSP00000321984:L19P	ENSP00000321984:L19P	L	+	2	0	MTHFD2L	75259173	0.167000	0.22975	0.997000	0.53966	0.933000	0.57130	1.157000	0.31724	2.248000	0.74166	0.523000	0.50628	CTT	-	pfam_THF_DH/CycHdrlase_cat_dom		0.428	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	protein_coding		T	NM_001004346	-		75040309	1	no_errors	ENST00000395759	ensembl	human	known	74_37	missense	SNP	0.996	C	C	75040309	T	C	75040309	3	2	128	1	0	0	0	0	1	0	0	0	9932	1609	56	5	236	5	MTHFD2L	4	75040309	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	5511450	75040309	116113967	98	9611											
NUP54	53371	genome.wustl.edu	37	chr4	77065350	77065350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaaatcccagtccagTtcccaaaccagtacctaaac	3	17	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:77065350T>C	ENST00000264883.3	-	3	387	c.247A>G	c.(247-249)Act>Gct	p.T83A	NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	83	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				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)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CCCAGTCCAGTTCCCAAACCA	0.423																																																	0								ENSG00000138750						253	255	255					4																	77065350		2203	4300	6503	NUP54	SO:0001583	missense	0			-	HGNC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.247A>G	4.37:g.77065350T>C	ENSP00000264883:p.Thr83Ala	Somatic	0	88	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP							NULL	p.T83A	ENST00000264883.3	37	c.247	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537716	0.45176	.	.	ENSG00000138750	ENST00000264883;ENST00000514901	.	.	.	5.76	4.58	0.56647	.	0.147588	0.64402	D	0.000010	T	0.40546	0.1121	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.22521	-1.0214	9	0.05959	T	0.93	-19.5175	11.4886	0.50369	0.0:0.07:0.0:0.93	.	83	Q7Z3B4	NUP54_HUMAN	A	83;137	.	ENSP00000264883:T83A	T	-	1	0	NUP54	77284374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.019000	0.49635	2.315000	0.78130	0.533000	0.62120	ACT	-	NULL		0.423	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	protein_coding	OTTHUMT00000252402.3	T		-		77065350	-1	no_errors	ENST00000264883	ensembl	human	known	74_37	missense	SNP	1.000	C	C	77065350	T	C	77065350	3	2	128	1	0	0	0	0	1	0	0	0	10769	1725	60	5	1316	5	NUP54	4	77065350	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	2025041	77065350	114088926	99	9612											
ADH4	127	genome.wustl.edu	37	chr4	100060216	100060216	+	Frame_Shift_Del	DEL	T	T	-													agtgtagagtgcttacctgaTtttcccacacaaatttgtga							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:100060216delT	ENST00000265512.7	-	4	420	c.346delA	c.(346-348)atcfs	p.I116fs	ADH4_ENST00000505590.1_Frame_Shift_Del_p.I135fs|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Frame_Shift_Del_p.I135fs|ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000423445.1_Frame_Shift_Del_p.I135fs	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	116					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GCTTACCTGATTTTCCCACAC	0.358																																																	0								ENSG00000198099						77	72	73					4																	100060216		2203	4300	6503	ADH4	SO:0001589	frameshift_variant	0				HGNC	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.346delA	4.37:g.100060216delT	ENSP00000265512:p.Ile116fs	Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	A8K470|B4DIE7|C9J4A9|Q8TCD7	Frame_Shift_Del	DEL							pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.I135fs	ENST00000265512.7	37	c.403	CCDS34032.1	4																																																																																			-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER		0.358	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	protein_coding	OTTHUMT00000364220.2	T	NM_000670			100060216	-1	no_errors	ENST00000423445	ensembl	human	known	74_37	frame_shift_del	DEL	0.147	-	-	100060216	T	-	100060216	7	5	128	1	0	1	0	1	0	0	0	0	310	1493	52	0	820	0	ADH4	4	100060216	Frame_Shift_Del	DEL	T	TCGA-DX-AB32-01A-11D-A417-09	22994866	100060216	91094060	100	9613											
ZNF827	152485	genome.wustl.edu	37	chr4	146686150	146686150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccttacttgagcccacCggtggggacagtgtggcatt	12	11	0	1	rs148875276		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:146686150C>T	ENST00000508784.1	-	13	3447	c.3220G>A	c.(3220-3222)Ggt>Agt	p.G1074S	ZNF827_ENST00000379448.4_Missense_Mutation_p.G1074S|ZNF827_ENST00000513320.1_Missense_Mutation_p.G724S			Q17R98	ZN827_HUMAN	zinc finger protein 827	1074					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)					TTGAGCCCACCGGTGGGGACA	0.507													C|||	1	0.000199681	0	0.0014	5008	,	,		20974	0		0	False		,,,				2504	0																0								ENSG00000151612	C	SER/GLY	0,4406		0,0,2203	123	123	123		3220	4.8	1	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF827	NM_178835.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1074/1078	146686150	1,13005	2203	4300	6503	ZNF827	SO:0001583	missense	0			-	HGNC	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.3220G>A	4.37:g.146686150C>T	ENSP00000421863:p.Gly1074Ser	Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1074S	ENST00000508784.1	37	c.3220		4	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908627	0.92107	0.0	1.16E-4	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000503462;ENST00000440280	T;T;T;T	0.20881	3.01;2.8;2.04;3.24	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.08118	0	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.43814	-0.9368	10	0.62326	D	0.03	-9.5752	18.3139	0.90210	0.0:1.0:0.0:0.0	.	724;1074;1074;724	G5E9Z1;Q17R98;Q17R98-2;E7ESI8	.;ZN827_HUMAN;.;.	S	1074;724;1074;1073;20;724	ENSP00000421863:G1074S;ENSP00000423130:G724S;ENSP00000368761:G1074S;ENSP00000424541:G20S	ENSP00000281318:G1073S	G	-	1	0	ZNF827	146905600	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.445000	0.80570	2.368000	0.80403	0.655000	0.94253	GGT	-	NULL		0.507	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	C	NM_178835	rs148875276		146686150	-1	no_errors	ENST00000508784	ensembl	human	known	74_37	missense	SNP	1.000	T	T	146686150	C	T	146686150	3	4	128	1	0	0	0	0	1	0	0	0	18187	652	23	1	17	1	ZNF827	4	146686150	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	46625934	146686150	44468126	101	9614											
TKTL2	84076	genome.wustl.edu	37	chr4	164394067	164394067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctcaattaatttgacaaTtgcatctgctctttcttttg	4	9	4	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr4:164394067T>C	ENST00000280605.3	-	1	980	c.820A>G	c.(820-822)Att>Gtt	p.I274V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	274						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AATTTGACAATTGCATCTGCT	0.393																																																	0								ENSG00000151005						151	154	153					4																	164394067		2203	4300	6503	TKTL2	SO:0001583	missense	0			-	HGNC	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.820A>G	4.37:g.164394067T>C	ENSP00000280605:p.Ile274Val	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP							pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.I274V	ENST00000280605.3	37	c.820	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	T	0.138	-1.105229	0.01828	.	.	ENSG00000151005	ENST00000280605	T	0.21543	2.0	4.3	-3.9	0.04181	.	0.260506	0.33553	N	0.004797	T	0.10252	0.0251	N	0.16862	0.45	0.09310	N	1	B	0.10296	0.003	B	0.22152	0.038	T	0.29397	-1.0013	10	0.21014	T	0.42	-4.2401	11.0097	0.47654	0.0:0.465:0.0:0.535	.	274	Q9H0I9	TKTL2_HUMAN	V	274	ENSP00000280605:I274V	ENSP00000280605:I274V	I	-	1	0	TKTL2	164613517	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.397000	0.07269	-0.718000	0.04949	-0.250000	0.11733	ATT	-	NULL		0.393	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	T	NM_032136	-		164394067	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	missense	SNP	0.000	C	C	164394067	T	C	164394067	3	2	128	1	0	0	0	0	1	0	0	0	15943	1493	52	5	1064	5	TKTL2	4	164394067	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	17707917	164394067	26760209	102	9615											
BRD9	65980	genome.wustl.edu	37	chr5	887533	887533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccaacttgtagtacacGgtatctggcctattgtatgt	9	9	1	0	rs73733976	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:887533G>A	ENST00000467963.1	-	6	826	c.660C>T	c.(658-660)acC>acT	p.T220T	BRD9_ENST00000435709.2_Silent_p.T104T|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000323510.4_Silent_p.T104T|BRD9_ENST00000388890.4_Silent_p.T104T|BRD9_ENST00000483173.1_Silent_p.T167T	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	220	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TGTAGTACACGGTATCTGGCC	0.448													G|||	2	0.000399361	0	0	5008	,	,		22109	0		0	False		,,,				2504	0.002																0								ENSG00000028310						208	197	201					5																	887533		2203	4300	6503	BRD9	SO:0001819	synonymous_variant	0			-	HGNC	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.660C>T	5.37:g.887533G>A		Somatic	0	43	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP							pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.T220	ENST00000467963.1	37	c.660	CCDS34127.2	5																																																																																			-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.448	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	protein_coding	OTTHUMT00000354113.1	G	NM_023924	-		887533	-1	no_errors	ENST00000467963	ensembl	human	known	74_37	silent	SNP	0.120	A	A	887533	G	A	887533	2	1	128	1	0	0	0	0	0	0	0	1	1509	1103	39	1		1	BRD9	5	887533	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		887533	180027727	103	9616											
RICTOR	253260	genome.wustl.edu	37	chr5	38996934	38996934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatacctttctgactaatCgaagtgcttgtgtcctctct	7	11	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:38996934C>T	ENST00000357387.3	-	6	473	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R148Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCTGACTAATCGAAGTGCTTG	0.299																																																	0								ENSG00000164327						170	167	168					5																	38996934		2203	4300	6503	RICTOR	SO:0001583	missense	0			-	HGNC		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.443G>A	5.37:g.38996934C>T	ENSP00000349959:p.Arg148Gln	Somatic	0	80	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	51	31.08		Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R148Q	ENST00000357387.3	37	c.443	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.550322	0.96501	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.65916	-0.18;-0.18;-0.18	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.99;0.999;0.988;0.986	T	0.81044	-0.1111	10	0.87932	D	0	-8.8043	19.7399	0.96223	0.0:1.0:0.0:0.0	.	148;148;148;148	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	Q	148;148;132	ENSP00000349959:R148Q;ENSP00000296782:R148Q;ENSP00000423162:R132Q	ENSP00000296782:R148Q	R	-	2	0	RICTOR	39032691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.299000	0.78831	2.736000	0.93811	0.561000	0.74099	CGA	-	superfamily_ARM-type_fold		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	protein_coding	OTTHUMT00000366985.1	C	NM_152756	-		38996934	-1	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38996934	C	T	38996934	3	4	128	1	0	0	0	0	1	0	0	0	13366	884	31	1	4815	1	RICTOR	5	38996934	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	38109401	38996934	141918326	104	9617											
MRPS30	10884	genome.wustl.edu	37	chr5	44811183	44811183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggtcatcgaagaggtcGaattgatgacttgcgatacc	12	8	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:44811183G>A	ENST00000507110.1	+	2	712	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	225					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGAAGAGGTCGAATTGATGAC	0.363																																																	0								ENSG00000112996						136	132	134					5																	44811183		2203	4300	6503	MRPS30	SO:0001583	missense	0			-	HGNC	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.674G>A	5.37:g.44811183G>A	ENSP00000424328:p.Arg225Gln	Somatic	0	137	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	119	29.17	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP							pfam_Ribosomal_L37/S30	p.R225Q	ENST00000507110.1	37	c.674	CCDS3951.1	5	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558487	0.65538	.	.	ENSG00000112996	ENST00000507110	T	0.19105	2.17	5.31	3.51	0.40186	.	0.273815	0.35805	N	0.002975	T	0.33527	0.0866	M	0.75264	2.295	0.39346	D	0.965676	D	0.64830	0.994	P	0.55222	0.771	T	0.28004	-1.0057	10	0.13108	T	0.6	-2.697	11.0554	0.47915	0.1522:0.0:0.8478:0.0	.	225	Q9NP92	RT30_HUMAN	Q	225	ENSP00000424328:R225Q	ENSP00000424328:R225Q	R	+	2	0	MRPS30	44846940	0.998000	0.40836	0.936000	0.37596	0.703000	0.40648	3.159000	0.50731	0.707000	0.31934	0.655000	0.94253	CGA	-	pfam_Ribosomal_L37/S30		0.363	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	protein_coding	OTTHUMT00000214033.2	G	NM_016640	-		44811183	1	no_errors	ENST00000507110	ensembl	human	known	74_37	missense	SNP	0.995	A	A	44811183	G	A	44811183	3	1	128	1	0	0	0	0	1	0	0	0	9842	1058	37	1	680	1	MRPS30	5	44811183	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	5814249	44811183	136104077	105	9618											
PAPD4	167153	genome.wustl.edu	37	chr5	78944893	78944893	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttactttcagttgaaaatCgagttcgtccgttagtgctg	9	7	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:78944893C>T	ENST00000296783.3	+	11	1206	c.907C>T	c.(907-909)Cga>Tga	p.R303*	PAPD4_ENST00000428308.2_Nonsense_Mutation_p.R303*|PAPD4_ENST00000453514.1_Nonsense_Mutation_p.R303*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.R299*|PAPD4_ENST00000504233.1_Intron			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	303					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGTTGAAAATCGAGTTCGTCC	0.363																																																	0								ENSG00000164329						107	102	104					5																	78944893		2203	4300	6503	PAPD4	SO:0001587	stop_gained	0			-	HGNC	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.907C>T	5.37:g.78944893C>T	ENSP00000296783:p.Arg303*	Somatic	0	82	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	62	30.43	Q86WZ2|Q8N927	Nonsense_Mutation	SNP							pfam_PAP_assoc	p.R303*	ENST00000296783.3	37	c.907	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.462959	0.99178	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000428308;ENST00000296783	.	.	.	5.86	5.86	0.93980	.	0.117372	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2003	19.7843	0.96430	0.0:1.0:0.0:0.0	.	.	.	.	X	303;299;303;303	.	ENSP00000296783:R303X	R	+	1	2	PAPD4	78980649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.891000	0.56227	2.774000	0.95407	0.585000	0.79938	CGA	-	NULL		0.363	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	protein_coding	OTTHUMT00000226967.1	C	NM_173797	-		78944893	1	no_errors	ENST00000296783	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	78944893	C	T	78944893	4	4	128	1	0	0	0	0	0	1	0	0	11426	876	31	1	941	1	PAPD4	5	78944893	Nonsense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	34133710	78944893	101970367	106	9619											
PCDHA10	56139	genome.wustl.edu	37	chr5	140235763	140235763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagacacggcaccttcGtgggccgcatcgcgcaggac	14	15	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:140235763G>A	ENST00000307360.5	+	1	130	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V44M|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	44	Cadherin 1. {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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTGGGCCGCAT	0.657																																																	0								ENSG00000250120						46	53	51					5																	140235763		2196	4269	6465	PCDHA10	SO:0001583	missense	0			-	HGNC	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.130G>A	5.37:g.140235763G>A	ENSP00000304234:p.Val44Met	Somatic	0	98	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	66	16.46	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V44M	ENST00000307360.5	37	c.130	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685024	0.68157	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54866	0.55;0.55	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.84297	0.5441	H	0.99249	4.485	0.36744	D	0.882409	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.93135	0.6536	9	0.87932	D	0	.	17.329	0.87258	0.0:0.0:1.0:0.0	.	44;44;44	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	44	ENSP00000421030:V44M;ENSP00000304234:V44M	ENSP00000304234:V44M	V	+	1	0	PCDHA10	140215947	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.503000	0.66962	2.391000	0.81399	0.556000	0.70494	GTG	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	protein_coding	OTTHUMT00000372895.2	G	NM_018901	-		140235763	1	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140235763	G	A	140235763	3	1	128	1	0	0	0	0	1	0	0	0	11522	1145	40	1	132	1	PCDHA10	5	140235763	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	61290870	140235763	40679497	107	9620											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140769482	140769482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggatatcactgaccgcccCgacccctctgacctccaggc	8	20	2	2	rs371220204		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:140769482C>T	ENST00000519479.1	+	1	2031	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	677					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCGCCCCGACCCCTCTG	0.612																																																	0								ENSG00000253953	C	,,,,,,,,,,,	0,4302		0,0,2151	131	143	139		2031,,,,,,,,,,,2031	-10.8	0	5		139	1,8497		0,1,4248	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032098.1	,,,,,,,,,,,	0,1,6399	TT,TC,CC		0.0118,0.0,0.0078	,,,,,,,,,,,	677/924,,,,,,,,,,,677/804	140769482	1,12799	2151	4249	6400	PCDHGB4	SO:0001819	synonymous_variant	0			-	HGNC	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2031C>T	5.37:g.140769482C>T		Somatic	0	21	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	O15099|Q2M267|Q9UN64	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P677	ENST00000519479.1	37	c.2031	CCDS54928.1	5																																																																																			-	NULL		0.612	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	protein_coding	OTTHUMT00000374745.1	C	NM_003736	-		140769482	1	no_errors	ENST00000519479	ensembl	human	known	74_37	silent	SNP	0.000	T	T	140769482	C	T	140769482	2	4	128	1	0	0	0	0	0	0	0	1	11567	639	23	1		1	PCDHGB4	5	140769482	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	533719	140769482	40145778	108	9621											
RELL2	285613	genome.wustl.edu	37	chr5	141019123	141019123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttgcctccattgcagccGcagcaagaggcctccacttg	9	17	0	1	rs139014914		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:141019123G>A	ENST00000297164.3	+	4	1610	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RELL2_ENST00000521367.1_Missense_Mutation_p.R71H|RELL2_ENST00000444782.1_Missense_Mutation_p.R137H|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R71H|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	137					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGCAGCCGCAGCAAGAGG	0.647																																																	0								ENSG00000164620	G	HIS/ARG,,HIS/ARG	0,4406		0,0,2203	41	44	43		410,,410	4.8	1	5	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense	FCHSD1,RELL2	NM_001130029.1,NM_033449.2,NM_173828.4	29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	137/304,,137/304	141019123	1,13005	2203	4300	6503	RELL2	SO:0001583	missense	0			-	HGNC	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.410G>A	5.37:g.141019123G>A	ENSP00000297164:p.Arg137His	Somatic	0	82	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25	D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP							pfam_TNF_rcpt_RELT	p.R137H	ENST00000297164.3	37	c.410	CCDS4265.1	5	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806330	0.70682	0.0	1.16E-4	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.7	4.77	0.60923	.	0.502118	0.19074	N	0.123434	T	0.37598	0.1009	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.869	T	0.15752	-1.0426	10	0.54805	T	0.06	-12.8261	9.8534	0.41070	0.074:0.0:0.7844:0.1416	.	71;137	E5RHA7;Q8NC24	.;RELL2_HUMAN	H	137;71;137;71	ENSP00000409443:R137H;ENSP00000430948:R71H;ENSP00000297164:R137H;ENSP00000427992:R71H	ENSP00000297164:R137H	R	+	2	0	RELL2	140999307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.079000	0.41577	2.683000	0.91414	0.655000	0.94253	CGC	-	NULL		0.647	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	protein_coding	OTTHUMT00000251807.2	G	NM_173828	rs139014914		141019123	1	no_errors	ENST00000297164	ensembl	human	known	74_37	missense	SNP	0.998	A	A	141019123	G	A	141019123	3	1	128	1	0	0	0	0	1	0	0	0	13227	1087	38	1	424	1	RELL2	5	141019123	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	249641	141019123	39896137	109	9622											
GLRA1	2741	genome.wustl.edu	37	chr5	151202325	151202325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccatggggaagccaatgCgggatattttgtcgatcttc	13	8	1	0	rs281864919		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:151202325C>T	ENST00000455880.2	-	9	1569	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GLRA1_ENST00000274576.4_Missense_Mutation_p.R420H|GLRA1_ENST00000545569.1_Missense_Mutation_p.R337H			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	428			R -> H (in HKPX1). {ECO:0000269|PubMed:10514101}.		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)			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)	GAAGCCAATGCGGGATATTTT	0.498																																																	0			GRCh37	CM992338	GLRA1	M		ENSG00000145888						144	152	149					5																	151202325		2203	4300	6503	GLRA1	SO:0001583	missense	0			-	HGNC		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.1283G>A	5.37:g.151202325C>T	ENSP00000411593:p.Arg428His	Somatic	0	102	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	86	27.73	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel	p.R428H	ENST00000455880.2	37	c.1283	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783859	0.90282	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.88277	-2.36;-2.36;-2.36	5.03	5.03	0.67393	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95617	0.8575	M	0.89968	3.075	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	0.96533	0.9394	10	0.87932	D	0	.	18.3582	0.90365	0.0:1.0:0.0:0.0	.	428;337;420	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	H	420;428;337	ENSP00000274576:R420H;ENSP00000411593:R428H;ENSP00000445913:R337H	ENSP00000274576:R420H	R	-	2	0	GLRA1	151182518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.841000	0.69409	2.308000	0.77769	0.563000	0.77884	CGC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.498	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	protein_coding	OTTHUMT00000373959.1	C		-		151202325	-1	no_errors	ENST00000455880	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151202325	C	T	151202325	3	4	128	1	0	0	0	0	1	0	0	0	6456	768	27	1	94	1	GLRA1	5	151202325	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	10183202	151202325	29712935	110	9623											
LARP1	23367	genome.wustl.edu	37	chr5	154193507	154193507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcaggaggtggcggcGgtgagggcaggaagcggtgc	23	6	0	1	rs529943708		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:154193507G>A	ENST00000336314.4	+	19	2935	c.2911G>A	c.(2911-2913)Ggt>Agt	p.G971S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1048					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.G1048S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGTGGCGGCGGTGAGGGCAG	0.637													G|||	1	0.000199681	0	0	5008	,	,		13891	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	prostate(1)						ENSG00000155506						69	66	67					5																	154193507		2203	4300	6503	LARP1	SO:0001583	missense	0			-	HGNC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2911G>A	5.37:g.154193507G>A	ENSP00000336721:p.Gly971Ser	Somatic	0	110	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.32	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP							pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.G971S	ENST00000336314.4	37	c.2911	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186161	0.38609	.	.	ENSG00000155506	ENST00000336314	T	0.23754	1.89	5.18	4.17	0.49024	.	0.144353	0.43919	N	0.000516	T	0.19565	0.0470	L	0.36672	1.1	0.52501	D	0.999953	B;P	0.41159	0.127;0.74	B;B	0.38985	0.01;0.287	T	0.02581	-1.1138	10	0.21014	T	0.42	-2.7818	11.3913	0.49815	0.1079:0.0:0.8921:0.0	.	1048;971	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	S	971	ENSP00000336721:G971S	ENSP00000336721:G971S	G	+	1	0	LARP1	154173700	1.000000	0.71417	0.876000	0.34364	0.347000	0.29111	2.437000	0.44828	0.942000	0.37525	0.561000	0.74099	GGT	-	NULL		0.637	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	protein_coding	OTTHUMT00000252509.1	G	NM_033551	-		154193507	1	no_errors	ENST00000336314	ensembl	human	known	74_37	missense	SNP	0.985	A	A	154193507	G	A	154193507	3	1	128	1	0	0	0	0	1	0	0	0	8630	1116	39	1	2985	1	LARP1	5	154193507	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2991182	154193507	26721753	111	9624											
KIF4B	285643	genome.wustl.edu	37	chr5	154396339	154396339	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaacttgagaagatgCgagaagtgtgtgagcaaaat	13	3	0	6			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:154396339C>T	ENST00000435029.4	+	1	3080	c.2920C>T	c.(2920-2922)Cga>Tga	p.R974*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	974	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGAAGATGCGAGAAGTGTG	0.463																																																	0								ENSG00000226650						140	137	138					5																	154396339		2203	4300	6503	KIF4B	SO:0001587	stop_gained	0			-	HGNC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2920C>T	5.37:g.154396339C>T	ENSP00000387875:p.Arg974*	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	50	30.56		Nonsense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R974*	ENST00000435029.4	37	c.2920	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	c	33	5.239423	0.95240	.	.	ENSG00000226650	ENST00000435029	.	.	.	1.76	0.852	0.18995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2406	0.04018	0.303:0.5025:0.0:0.1945	.	.	.	.	X	974	.	ENSP00000387875:R974X	R	+	1	2	KIF4B	154376532	1.000000	0.71417	0.318000	0.25279	0.374000	0.29953	1.050000	0.30404	0.290000	0.22444	0.557000	0.71058	CGA	-	NULL		0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	C		-		154396339	1	no_errors	ENST00000435029	ensembl	human	known	74_37	nonsense	SNP	0.502	T	T	154396339	C	T	154396339	4	4	128	1	0	0	0	0	0	1	0	0	8306	760	27	1	2922	1	KIF4B	5	154396339	Nonsense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	202832	154396339	26518921	112	9625											
ODZ2	57451	genome.wustl.edu	37	chr5	167552021	167552021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacgggcctctgcagctgCgatcccaactggatgggtcc	13	14	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:167552021C>T	ENST00000518659.1	+	11	2214	c.2175C>T	c.(2173-2175)tgC>tgT	p.C725C	TENM2_ENST00000519204.1_Silent_p.C604C|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.C493C|TENM2_ENST00000545108.1_Silent_p.C725C|TENM2_ENST00000403607.2_Silent_p.C558C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	725	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										TCTGCAGCTGCGATCCCAACT	0.602																																																	0								ENSG00000145934						42	48	46					5																	167552021		2102	4199	6301	TENM2	SO:0001819	synonymous_variant	0			-	HGNC	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.2175C>T	5.37:g.167552021C>T		Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	Q9ULU2	Silent	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.C725	ENST00000518659.1	37	c.2175		5																																																																																			-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.602	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	C	NM_001122679	-		167552021	1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	SNP	0.929	T	T	167552021	C	T	167552021	2	4	128	1	0	0	0	0	0	0	0	1	10837	776	27	1		1	ODZ2	5	167552021	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	13155682	167552021	13363239	113	9626											
GPRIN1	114787	genome.wustl.edu	37	chr5	176025084	176025084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccttccccgagggcacCgggactgtttttcctggagt	11	14	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr5:176025084C>T	ENST00000303991.4	-	2	1929	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	584					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGGCACCGGGACTGTTT	0.562																																																	0								ENSG00000169258						82	85	84					5																	176025084		2203	4300	6503	GPRIN1	SO:0001819	synonymous_variant	0			-	HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1752G>A	5.37:g.176025084C>T		Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	C9JM70|Q8ND74|Q96PZ4	Silent	SNP							NULL	p.P584	ENST00000303991.4	37	c.1752	CCDS4405.1	5																																																																																			-	NULL		0.562	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	C	NM_052899	-		176025084	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	silent	SNP	0.000	T	T	176025084	C	T	176025084	2	4	128	1	0	0	0	0	0	0	0	1	6731	639	23	1		1	GPRIN1	5	176025084	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	8473063	176025084	4890176	114	9627											
HUS1B	135458	genome.wustl.edu	37	chr6	656913	656913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaacagctctagacagCctttgccggtgatcttggcg	12	10	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:656913C>T	ENST00000380907.2	-	1	50	c.32G>A	c.(31-33)gGc>gAc	p.G11D	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	11					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CTCTAGACAGCCTTTGCCGGT	0.657																																																	0								ENSG00000188996						65	62	63					6																	656913		2201	4290	6491	HUS1B	SO:0001583	missense	0			-	HGNC	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.32G>A	6.37:g.656913C>T	ENSP00000370293:p.Gly11Asp	Somatic	0	75	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5T4Z2	Missense_Mutation	SNP							pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	p.G11D	ENST00000380907.2	37	c.32	CCDS4470.1	6	.	.	.	.	.	.	.	.	.	.	C	0.211	-1.036399	0.02013	.	.	ENSG00000188996	ENST00000380907	T	0.11169	2.8	2.8	-5.61	0.02489	.	0.457149	0.17494	U	0.172254	T	0.01387	0.0045	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.45175	-0.9279	10	0.10111	T	0.7	.	6.3705	0.21479	0.0:0.2021:0.4137:0.3842	.	11	Q8NHY5	HUS1B_HUMAN	D	11	ENSP00000370293:G11D	ENSP00000370293:G11D	G	-	2	0	HUS1B	601913	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.164000	0.03135	-2.497000	0.00513	-0.424000	0.05967	GGC	-	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1		0.657	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	protein_coding	OTTHUMT00000205617.2	C	NM_148959	-		656913	-1	no_errors	ENST00000380907	ensembl	human	known	74_37	missense	SNP	0.000	T	T	656913	C	T	656913	3	4	128	1	0	0	0	0	1	0	0	0	7462	739	26	2	808	2	HUS1B	6	656913	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		656913	170458154	115	9628											
DSP	1832	genome.wustl.edu	37	chr6	7558370	7558370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaagtatggagatggaAtacaactgactcggagtcga	12	5	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:7558370A>G	ENST00000379802.3	+	3	636	c.295A>G	c.(295-297)Ata>Gta	p.I99V	DSP_ENST00000418664.2_Missense_Mutation_p.I99V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	99	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGAGATGGAATACAACTGAC	0.448																																																	0								ENSG00000096696						112	108	109					6																	7558370		2203	4300	6503	DSP	SO:0001583	missense	0			-	HGNC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.295A>G	6.37:g.7558370A>G	ENSP00000369129:p.Ile99Val	Somatic	0	88	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP							pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I99V	ENST00000379802.3	37	c.295	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	0.698	-0.791964	0.02884	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73363	-0.42;-0.74	5.82	0.51	0.16983	.	0.581631	0.17351	N	0.177386	T	0.22859	0.0552	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29731	-1.0002	10	0.27082	T	0.32	.	5.5058	0.16854	0.4887:0.2501:0.2613:0.0	.	146;99	Q4LE79;P15924	.;DESP_HUMAN	V	99	ENSP00000369129:I99V;ENSP00000396591:I99V	ENSP00000369129:I99V	I	+	1	0	DSP	7503369	0.163000	0.22920	0.025000	0.17156	0.943000	0.58893	0.666000	0.25097	0.107000	0.17824	0.533000	0.62120	ATA	-	NULL		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	protein_coding	OTTHUMT00000039786.2	A	NM_004415	-		7558370	1	no_errors	ENST00000379802	ensembl	human	known	74_37	missense	SNP	0.006	G	G	7558370	A	G	7558370	3	3	128	1	0	0	0	0	1	0	0	0	4783	101	4	5	305	5	DSP	6	7558370	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	6901457	7558370	163556697	116	9629											
HIST1H2BO	8348	genome.wustl.edu	37	chr6	27861357	27861357	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccgcaaagagagttactcTatctacgtgtacaaggtgct	10	9	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:27861357T>A	ENST00000303806.4	+	1	155	c.117T>A	c.(115-117)tcT>tcA	p.S39S	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	39					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										AGAGTTACTCTATCTACGTGT	0.532																																																	0								ENSG00000196331						148	137	141					6																	27861357		2203	4300	6503	HIST1H2BO	SO:0001819	synonymous_variant	0			-	HGNC	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.117T>A	6.37:g.27861357T>A		Somatic	0	100	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	49	37.18	Q3KPI7|Q8TCV6	Silent	SNP							pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S39	ENST00000303806.4	37	c.117	CCDS4640.1	6																																																																																			-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.532	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BO	protein_coding	OTTHUMT00000040161.1	T	NM_003527	-		27861357	1	no_errors	ENST00000303806	ensembl	human	known	74_37	silent	SNP	0.001	A	A	27861357	T	A	27861357	2	1	128	1	0	0	0	0	0	0	0	1	7156	1509	53	5		5	HIST1H2BO	6	27861357	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	20302987	27861357	143253710	117	9630											
OR5V1	81696	genome.wustl.edu	37	chr6	29323056	29323056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattggtggctgccacttgCtccctatagttttgacagct	9	10	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:29323056C>T	ENST00000377154.1	-	4	1216	c.917G>A	c.(916-918)aGc>aAc	p.S306N	OR5V1_ENST00000543825.1_Missense_Mutation_p.S306N			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	306						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(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCACTTGCTCCCTATAGT	0.373																																					Ovarian(32;43 883 21137 32120 42650)												0								ENSG00000243729						91	90	90					6																	29323056		2203	4300	6503	OR5V1	SO:0001583	missense	0			-	HGNC		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.917G>A	6.37:g.29323056C>T	ENSP00000366359:p.Ser306Asn	Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S306N	ENST00000377154.1	37	c.917	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125350	0.20959	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.38240	1.15;1.15	4.28	0.375	0.16188	.	.	.	.	.	T	0.03827	0.0108	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44421	-0.9329	9	0.13853	T	0.58	18.1758	4.0937	0.09982	0.1623:0.5601:0.0:0.2776	.	306	Q9UGF6	OR5V1_HUMAN	N	306	ENSP00000366359:S306N;ENSP00000443309:S306N	ENSP00000366356:S306N	S	-	2	0	OR5V1	29431035	0.002000	0.14202	0.002000	0.10522	0.430000	0.31655	0.097000	0.15168	-0.058000	0.13177	-0.324000	0.08512	AGC	-	NULL		0.373	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	protein_coding	OTTHUMT00000076398.3	C		-		29323056	-1	no_errors	ENST00000377154	ensembl	human	known	74_37	missense	SNP	0.000	T	T	29323056	C	T	29323056	3	4	128	1	0	0	0	0	1	0	0	0	11186	797	28	2	51	2	OR5V1	6	29323056	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1461699	29323056	141792011	118	9631											
EHMT2	10919	genome.wustl.edu	37	chr6	31856193	31856193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtttgaccatgcgggCgcggtgggtctcacagagca	17	9	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:31856193C>T	ENST00000375537.4	-	12	1462	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.A543T|EHMT2_ENST00000375528.4_Missense_Mutation_p.A509T|EHMT2_ENST00000375530.4_Missense_Mutation_p.A452T	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	486					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACCATGCGGGCGCGGTGGGTC	0.657																																																	0								ENSG00000204371						30	29	29					6																	31856193		1511	2708	4219	EHMT2	SO:0001583	missense	0			-	HGNC	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1456G>A	6.37:g.31856193C>T	ENSP00000364687:p.Ala486Thr	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A543T	ENST00000375537.4	37	c.1627	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308804	0.40895	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.69435	-0.4;-0.37;-0.31;-0.39	4.62	4.62	0.57501	.	0.082618	0.47093	D	0.000243	T	0.18923	0.0454	N	0.01705	-0.755	0.42281	D	0.992099	P;P;P;P	0.41265	0.627;0.744;0.627;0.627	B;B;B;B	0.31245	0.087;0.115;0.053;0.126	T	0.19418	-1.0306	10	0.34782	T	0.22	.	10.0629	0.42286	0.0:0.9061:0.0:0.0939	.	509;452;486;300	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	T	543;509;452;486;300	ENSP00000379078:A543T;ENSP00000364678:A509T;ENSP00000364680:A452T;ENSP00000364687:A486T	ENSP00000364678:A509T	A	-	1	0	EHMT2	31964172	0.994000	0.37717	0.959000	0.39883	0.923000	0.55619	3.278000	0.51662	2.394000	0.81467	0.555000	0.69702	GCC	-	NULL		0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	protein_coding	OTTHUMT00000076355.5	C	NM_006709	-		31856193	-1	no_errors	ENST00000395728	ensembl	human	known	74_37	missense	SNP	0.895	T	T	31856193	C	T	31856193	3	4	128	1	0	0	0	0	1	0	0	0	4986	768	27	1	2244	1	EHMT2	6	31856193	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2533137	31856193	139258874	119	9632											
CUL9	23113	genome.wustl.edu	37	chr6	43155850	43155850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgagatgaaggaggcaGccagtggtgagtcaggttct	15	8	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:43155850G>A	ENST00000252050.4	+	7	2065	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	CUL9_ENST00000354495.3_Missense_Mutation_p.A551T|CUL9_ENST00000372647.2_Missense_Mutation_p.A661T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	661					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						GAAGGAGGCAGCCAGTGGTGA	0.532																																																	0								ENSG00000112659						48	52	50					6																	43155850		2203	4300	6503	CUL9	SO:0001583	missense	0			-	HGNC	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.1981G>A	6.37:g.43155850G>A	ENSP00000252050:p.Ala661Thr	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP							pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A661T	ENST00000252050.4	37	c.1981	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496420	0.64186	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73469	-0.74;-0.75;-0.63	5.13	4.25	0.50352	.	0.784920	0.11718	N	0.536198	T	0.57888	0.2084	L	0.27053	0.805	0.29533	N	0.852635	P;P;D	0.59357	0.58;0.58;0.985	B;B;P	0.53518	0.196;0.196;0.728	T	0.54636	-0.8264	10	0.72032	D	0.01	-16.5404	7.4159	0.27044	0.0913:0.0:0.7413:0.1675	.	661;661;661	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	661;551;661	ENSP00000252050:A661T;ENSP00000346490:A551T;ENSP00000361730:A661T	ENSP00000252050:A661T	A	+	1	0	CUL9	43263828	1.000000	0.71417	0.984000	0.44739	0.864000	0.49448	3.788000	0.55446	1.123000	0.41961	0.467000	0.42956	GCC	-	NULL		0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	G	NM_015089	-		43155850	1	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	SNP	0.759	A	A	43155850	G	A	43155850	3	1	128	1	0	0	0	0	1	0	0	0	4063	971	34	2	2003	2	CUL9	6	43155850	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	11299657	43155850	127959217	120	9633											
TMEM63B	55362	genome.wustl.edu	37	chr6	44118302	44118302	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgcttccctccagcCtggacctcttcttccgctgg	7	19	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:44118302C>A	ENST00000259746.9	+	18	1792	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	TMEM63B_ENST00000323267.6_Splice_Site_p.L537M			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	537					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCCCTCCAGCCTGGACCTCTT	0.577																																																	0								ENSG00000137216						87	77	80					6																	44118302		2203	4300	6503	TMEM63B	SO:0001630	splice_region_variant	0			-	HGNC	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1608-1C>A	6.37:g.44118302C>A		Somatic	0	34	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP							pfam_DUF221	p.L537M	ENST00000259746.9	37	c.1609	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704564	0.68615	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.34472	1.36;1.36	5.0	3.07	0.35406	Domain of unknown function DUF221 (1);	0.000000	0.64402	D	0.000001	T	0.44685	0.1305	M	0.81341	2.54	0.37131	D	0.901241	D	0.89917	1.0	D	0.91635	0.999	T	0.50558	-0.8814	10	0.66056	D	0.02	.	4.692	0.12785	0.0:0.62:0.0:0.38	.	537	Q5T3F8	TM63B_HUMAN	M	537	ENSP00000259746:L537M;ENSP00000327154:L537M	ENSP00000259746:L537M	L	+	1	2	TMEM63B	44226280	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.588000	0.23924	1.342000	0.45619	0.655000	0.94253	CTG	-	pfam_DUF221		0.577	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	protein_coding	OTTHUMT00000040712.2	C	XM_166410	-	Missense_Mutation	44118302	1	no_errors	ENST00000259746	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44118302	C	A	44118302	5	1	128	1	0	0	0	0	0	0	1	0	16198	695	24	3	1675	3	TMEM63B	6	44118302	Splice_Site	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	962452	44118302	126996765	121	9634											
MCM3	4172	genome.wustl.edu	37	chr6	52143550	52143550	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcccagaccttggatcggGttttactgaacttcttgatc	9	10	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:52143550G>T	ENST00000229854.7	-	6	945	c.869C>A	c.(868-870)aCc>aAc	p.T290N	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.T244N|MCM3_ENST00000596288.1_Missense_Mutation_p.T335N			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	290					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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTTGGATCGGGTTTTACTGAA	0.438																																																	0								ENSG00000112118						90	89	89					6																	52143550		2203	4300	6503	MCM3	SO:0001583	missense	0			-	HGNC	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.869C>A	6.37:g.52143550G>T	ENSP00000229854:p.Thr290Asn	Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP							pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.T335N	ENST00000229854.7	37	c.1004		6	.	.	.	.	.	.	.	.	.	.	G	9.603	1.129270	0.21041	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06294	3.32;3.32	5.55	5.55	0.83447	.	0.168898	0.49916	D	0.000138	T	0.01092	0.0036	N	0.02103	-0.685	0.29110	N	0.880947	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.49428	-0.8941	10	0.36615	T	0.2	-27.4674	13.1932	0.59723	0.0:0.2565:0.7435:0.0	.	244;290	B4DUQ9;P25205	.;MCM3_HUMAN	N	290;244	ENSP00000229854:T290N;ENSP00000388647:T244N	ENSP00000229854:T290N	T	-	2	0	MCM3	52251509	0.998000	0.40836	0.999000	0.59377	0.974000	0.67602	2.703000	0.47110	2.885000	0.99019	0.655000	0.94253	ACC	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.438	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	protein_coding	OTTHUMT00000470784.1	G		-		52143550	-1	no_errors	ENST00000596288	ensembl	human	known	74_37	missense	SNP	0.833	T	T	52143550	G	T	52143550	3	4	128	1	0	0	0	0	1	0	0	0	9389	1261	44	3	1605	3	MCM3	6	52143550	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	8025248	52143550	118971517	122	9635											
SYNCRIP	10492	genome.wustl.edu	37	chr6	86329023	86329023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcaaaatgaatgaacGcataatcttttaacttcttc	4	9	4	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:86329023G>A	ENST00000369622.3	-	9	1621	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.A374V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	374	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A374V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATGAATGAACGCATAATCTTT	0.358																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000135316						142	135	138					6																	86329023		2203	4300	6503	SYNCRIP	SO:0001583	missense	0			-	HGNC	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1121C>T	6.37:g.86329023G>A	ENSP00000358635:p.Ala374Val	Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	26.53	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.A374V	ENST00000369622.3	37	c.1121	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.583069	0.96578	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	D;D	0.82167	-1.58;-1.58	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.997;0.993;0.997;0.994;0.973;0.994;0.997	D	0.93465	0.6814	10	0.87932	D	0	.	19.0791	0.93175	0.0:0.0:1.0:0.0	.	374;339;276;222;339;374;374	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	V	374	ENSP00000347380:A374V;ENSP00000358635:A374V	ENSP00000347380:A374V	A	-	2	0	SYNCRIP	86385742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.812000	0.99227	2.577000	0.86979	0.655000	0.94253	GCG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.358	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	protein_coding	OTTHUMT00000041396.1	G	NM_006372	-		86329023	-1	no_errors	ENST00000369622	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86329023	G	A	86329023	3	1	128	1	0	0	0	0	1	0	0	0	15451	1087	38	1	808	1	SYNCRIP	6	86329023	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	34185473	86329023	84786044	123	9636											
EPHA7	2045	genome.wustl.edu	37	chr6	93967917	93967917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgtttttctgtgtaAccaactttcagggtttttat	6	8	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:93967917A>G	ENST00000369303.4	-	11	2194	c.2010T>C	c.(2008-2010)ggT>ggC	p.G670G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	670	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)		TTTCTGTGTAACCAACTTTCA	0.443																																																	0								ENSG00000135333						138	140	139					6																	93967917		2203	4300	6503	EPHA7	SO:0001819	synonymous_variant	0			-	HGNC	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.2010T>C	6.37:g.93967917A>G		Somatic	0	96	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	51	35.44	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G670	ENST00000369303.4	37	c.2010	CCDS5031.1	6																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.443	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	A		-		93967917	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	silent	SNP	1.000	G	G	93967917	A	G	93967917	2	3	128	1	0	0	0	0	0	0	0	1	5174	30	2	5		5	EPHA7	6	93967917	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	7638894	93967917	77147150	124	9637											
PRDM1	639	genome.wustl.edu	37	chr6	106552838	106552838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggaaaggacctctaccGttctaacatttcacccctca	5	14	4	0	rs367766895		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:106552838G>A	ENST00000369096.4	+	5	1037	c.803G>A	c.(802-804)cGt>cAt	p.R268H	PRDM1_ENST00000369091.2_Missense_Mutation_p.R232H|PRDM1_ENST00000369089.3_Missense_Mutation_p.R134H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	268					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACCTCTACCGTTCTAACATT	0.478			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0								ENSG00000057657	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	219	236	230		401,803	1.2	0	6		230	0,8600		0,0,4300	no	missense,missense	PRDM1	NM_182907.1,NM_001198.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	134/692,268/826	106552838	1,13005	2203	4300	6503	PRDM1	SO:0001583	missense	0			-	HGNC		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.803G>A	6.37:g.106552838G>A	ENSP00000358092:p.Arg268His	Somatic	0	110	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	101	19.84	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.R268H	ENST00000369096.4	37	c.803	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360654	0.11296	2.27E-4	0.0	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.55760	3.14;3.13;0.5;3.12	5.73	1.17	0.20885	.	0.423809	0.28161	N	0.016367	T	0.15782	0.0380	L	0.31294	0.92	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.10450	0.001;0.005	T	0.22871	-1.0204	10	0.32370	T	0.25	-1.0114	6.4985	0.22155	0.223:0.2981:0.4789:0.0	.	134;268	Q86WM7;O75626	.;PRDM1_HUMAN	H	232;268;232;147;134	ENSP00000358087:R232H;ENSP00000358092:R268H;ENSP00000399772:R147H;ENSP00000358085:R134H	ENSP00000358085:R134H	R	+	2	0	PRDM1	106659531	0.745000	0.28261	0.003000	0.11579	0.254000	0.26022	1.744000	0.38268	0.295000	0.22570	-0.211000	0.12701	CGT	-	pirsf_Znf_PRDM1		0.478	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	protein_coding	OTTHUMT00000041661.3	G		-		106552838	1	no_errors	ENST00000369096	ensembl	human	known	74_37	missense	SNP	0.002	A	A	106552838	G	A	106552838	3	1	128	1	0	0	0	0	1	0	0	0	12455	1145	40	1	834	1	PRDM1	6	106552838	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	12584921	106552838	64562229	125	9638											
TUBE1	51175	genome.wustl.edu	37	chr6	112393216	112393216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggcccacaggaggtacGgaacacaggctggtcttcca	13	11	1	0	rs267600764		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:112393216G>A	ENST00000368662.5	-	11	1236	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	386					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	CAGGAGGTACGGAACACAGGC	0.413																																																	0								ENSG00000074935						84	88	87					6																	112393216		2203	4300	6503	TUBE1	SO:0001819	synonymous_variant	0			-	HGNC	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.1158C>T	6.37:g.112393216G>A		Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	71	20.22	Q5H8W8|Q8NEG3	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.S386	ENST00000368662.5	37	c.1158	CCDS5100.1	6																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom		0.413	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	protein_coding	OTTHUMT00000041867.1	G	NM_016262	-		112393216	-1	no_errors	ENST00000368662	ensembl	human	known	74_37	silent	SNP	0.969	A	A	112393216	G	A	112393216	2	1	128	1	0	0	0	0	0	0	0	1	16770	1103	39	1		1	TUBE1	6	112393216	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	5840378	112393216	58721851	126	9639											
MAN1A1	4121	genome.wustl.edu	37	chr6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccataacttctggccGtaagatgtagtatttttcat	7	8	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)												1	Substitution - Missense(1)	prostate(1)						ENSG00000111885						193	190	191					6																	119509656		2203	4300	6503	MAN1A1	SO:0001583	missense	0			-	HGNC	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1633C>T	6.37:g.119509656G>A	ENSP00000357453:p.Arg545Trp	Somatic	0	73	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	59	24.36	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R545W	ENST00000368468.3	37	c.1633	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	MAN1A1	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	protein_coding	OTTHUMT00000042015.1	G	NM_005907	-		119509656	-1	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119509656	G	A	119509656	3	1	128	1	0	0	0	0	1	0	0	0	9212	1144	40	1	340	1	MAN1A1	6	119509656	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	7116440	119509656	51605411	127	9640											
SYNE1	23345	genome.wustl.edu	37	chr6	152826384	152826384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgtttcggcgatagTgaaagcatcctccaaatttt	8	9	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:152826384T>C	ENST00000367255.5	-	9	1331	c.730A>G	c.(730-732)Act>Gct	p.T244A	SYNE1_ENST00000423061.1_Missense_Mutation_p.T251A|SYNE1_ENST00000367253.4_Missense_Mutation_p.T244A|SYNE1_ENST00000413186.2_Missense_Mutation_p.T244A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T251A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T244A|SYNE1_ENST00000367248.3_Missense_Mutation_p.T251A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T244A|SYNE1_ENST00000466159.2_Missense_Mutation_p.T244A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	244	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TCGGCGATAGTGAAAGCATCC	0.443										HNSCC(10;0.0054)																																							0								ENSG00000131018						148	133	138					6																	152826384		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.730A>G	6.37:g.152826384T>C	ENSP00000356224:p.Thr244Ala	Somatic	0	50	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.T244A	ENST00000367255.5	37	c.730	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	3.654	-0.070880	0.07228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	5.74	1.85	0.25348	Calponin homology domain (5);	0.288263	0.29822	N	0.011102	T	0.75309	0.3832	N	0.12920	0.275	0.22827	N	0.998689	B;B;B;B;B	0.15141	0.003;0.001;0.0;0.001;0.012	B;B;B;B;B	0.16289	0.005;0.003;0.003;0.003;0.015	T	0.67925	-0.5544	10	0.33141	T	0.24	.	5.8688	0.18793	0.3692:0.0667:0.0:0.5641	.	244;244;244;244;251	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	A	244;251;244;251;244;244;251;244;244;244	ENSP00000356224:T244A;ENSP00000396024:T251A;ENSP00000265368:T244A;ENSP00000390975:T251A;ENSP00000341887:T244A;ENSP00000356222:T244A;ENSP00000356217:T251A;ENSP00000414510:T244A;ENSP00000446021:T244A;ENSP00000441264:T244A	ENSP00000265368:T244A	T	-	1	0	SYNE1	152868077	0.070000	0.21116	0.727000	0.30756	0.140000	0.21249	-0.040000	0.12104	0.450000	0.26774	-0.361000	0.07541	ACT	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	T	NM_182961	-		152826384	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.356	C	C	152826384	T	C	152826384	3	2	128	1	0	0	0	0	1	0	0	0	15452	1696	59	5	26288	5	SYNE1	6	152826384	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	33316728	152826384	18288683	128	9641											
RBM16	22828	genome.wustl.edu	37	chr6	155152087	155152087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcattatccatgacaccGgaaactgtgaaagatgttgg	10	9	1	3	rs138080868		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr6:155152087G>A	ENST00000367178.3	+	19	2748	c.2172G>A	c.(2170-2172)ccG>ccA	p.P724P	SCAF8_ENST00000367186.4_Silent_p.P790P|SCAF8_ENST00000417268.1_Silent_p.P724P|TIAM2_ENST00000461783.3_5'Flank	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	724	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						CCATGACACCGGAAACTGTGA	0.408																																																	0								ENSG00000213079	G		1,4405	2.1+/-5.4	0,1,2202	80	82	82		2172	-1	1	6	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	SCAF8	NM_014892.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		724/1272	155152087	1,13005	2203	4300	6503	SCAF8	SO:0001819	synonymous_variant	0			-	HGNC	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.2172G>A	6.37:g.155152087G>A		Somatic	0	59	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP							pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.P790	ENST00000367178.3	37	c.2370	CCDS5247.1	6																																																																																			-	NULL		0.408	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	protein_coding	OTTHUMT00000042798.1	G	NM_014892	rs138080868		155152087	1	no_errors	ENST00000367186	ensembl	human	known	74_37	silent	SNP	0.998	A	A	155152087	G	A	155152087	2	1	128	1	0	0	0	0	0	0	0	1	13126	1103	39	1		1	RBM16	6	155152087	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2325703	155152087	15962980	129	9642											
TNRC18	84629	genome.wustl.edu	37	chr7	5352432	5352432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggtggggagcgccGcctgcgcggaagggccagcc	19	13	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:5352432G>A	ENST00000430969.1	-	27	8438	c.8090C>T	c.(8089-8091)gCg>gTg	p.A2697V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2697V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2697							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGAGCGCCGCCTGCGCGGA	0.721																																																	0								ENSG00000182095						6	7	7					7																	5352432		1537	3503	5040	TNRC18	SO:0001583	missense	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8090C>T	7.37:g.5352432G>A	ENSP00000395538:p.Ala2697Val	Somatic	0	34	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	40.48	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A2697V	ENST00000430969.1	37	c.8090	CCDS47534.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.995|3.995	-0.003753|-0.003753	0.07773|0.07773	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.06142|.	3.34;3.34|.	4.54|4.54	3.65|3.65	0.41850|0.41850	.|.	.|2.867570	.|0.02136	.|N	.|0.056775	T|T	0.24774|0.24774	0.0601|0.0601	N|N	0.08118|0.08118	0|0	0.27044|0.27044	N|N	0.963934|0.963934	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28839|0.28839	-1.0031|-1.0031	9|7	0.25751|0.87932	T|D	0.34|0	.|.	6.0846|6.0846	0.19960|0.19960	0.1001:0.0:0.6608:0.2391|0.1001:0.0:0.6608:0.2391	.|.	2697|.	O15417|.	TNC18_HUMAN|.	V|W	2697|1210	ENSP00000382452:A2697V;ENSP00000395538:A2697V|.	ENSP00000382452:A2697V|ENSP00000382459:R1210W	A|R	-|-	2|1	0|2	TNRC18|TNRC18	5318958|5318958	0.887000|0.887000	0.30362|0.30362	0.005000|0.005000	0.12908|0.12908	0.000000|0.000000	0.00434|0.00434	2.577000|2.577000	0.46042|0.46042	0.861000|0.861000	0.35504|0.35504	-0.350000|-0.350000	0.07774|0.07774	GCG|CGG	-	NULL		0.721	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		G		-		5352432	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	SNP	0.652	A	A	5352432	G	A	5352432	3	1	128	1	0	0	0	0	1	0	0	0	16346	1087	38	1	832	1	TNRC18	7	5352432	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		5352432	153786231	130	9643											
AHR	196	genome.wustl.edu	37	chr7	17369626	17369626	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatccataccgaagaccgAgctgaatttcagcgtcagct	8	12	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:17369626A>C	ENST00000242057.4	+	5	1144	c.501A>C	c.(499-501)cgA>cgC	p.R167R		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	167	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CCGAAGACCGAGCTGAATTTC	0.358																																																	0								ENSG00000106546						85	86	86					7																	17369626		2203	4300	6503	AHR	SO:0001819	synonymous_variant	0			-	HGNC	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.501A>C	7.37:g.17369626A>C		Somatic	0	54	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	A4D130|Q13728|Q13803|Q13804	Silent	SNP							pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.R167	ENST00000242057.4	37	c.501	CCDS5366.1	7																																																																																			-	pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS		0.358	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHR	protein_coding	OTTHUMT00000314620.2	A	NM_001621	-		17369626	1	no_errors	ENST00000242057	ensembl	human	known	74_37	silent	SNP	0.838	C	C	17369626	A	C	17369626	2	2	128	1	0	0	0	0	0	0	0	1	416	291	11	5		5	AHR	7	17369626	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	12017194	17369626	141769037	131	9644											
SP4	6671	genome.wustl.edu	37	chr7	21516784	21516784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaattgctaatgccaCgataggtgctgttagtcctg	13	7	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:21516784C>T	ENST00000222584.3	+	4	1984	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	589					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GCTAATGCCACGATAGGTGCT	0.473																																																	0								ENSG00000105866						109	93	98					7																	21516784		2203	4300	6503	SP4	SO:0001583	missense	0			-	HGNC		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1766C>T	7.37:g.21516784C>T	ENSP00000222584:p.Thr589Met	Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	51	22.73	O60402|Q32M52	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T589M	ENST00000222584.3	37	c.1766	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752685	0.69533	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	T	0.11604	2.76	6.17	6.17	0.99709	.	0.192155	0.46145	D	0.000312	T	0.10337	0.0253	L	0.31926	0.97	0.46564	D	0.999103	P	0.48640	0.913	B	0.37550	0.253	T	0.02257	-1.1187	10	0.52906	T	0.07	.	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	589	Q02446	SP4_HUMAN	M	589;32	ENSP00000222584:T589M	ENSP00000222584:T589M	T	+	2	0	SP4	21483309	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	5.468000	0.66743	2.941000	0.99782	0.655000	0.94253	ACG	-	NULL		0.473	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	protein_coding	OTTHUMT00000211617.2	C	NM_003112	-		21516784	1	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	SNP	0.988	T	T	21516784	C	T	21516784	3	4	128	1	0	0	0	0	1	0	0	0	14974	536	19	1	1780	1	SP4	7	21516784	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4147158	21516784	137621879	132	9645											
EGFR	1956	genome.wustl.edu	37	chr7	55087060	55087060	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctggaggaaaagaaaggTaagggcgtgtctcgccggct	16	8	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:55087060T>C	ENST00000275493.2	+	1	265		c.e1+2		EGFR_ENST00000455089.1_Splice_Site|EGFR_ENST00000442591.1_Splice_Site|EGFR_ENST00000344576.2_Splice_Site|EGFR_ENST00000463948.1_Splice_Site|EGFR_ENST00000420316.2_Splice_Site|EGFR_ENST00000342916.3_Splice_Site	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						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)	AAAAGAAAGGTAAGGGCGTGT	0.786		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													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								ENSG00000146648						6	8	7					7																	55087060		2092	4160	6252	EGFR	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	-	HGNC		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.88+2T>C	7.37:g.55087060T>C		Somatic	0	20	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	17.39	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Splice_Site	SNP							-	e1+2	ENST00000275493.2	37	c.88+2	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340802	0.60963	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591	.	.	.	4.34	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0313	0.30467	0.0:0.0:0.2072:0.7928	.	.	.	.	.	-1	.	.	.	+	.	.	EGFR	55054554	1.000000	0.71417	0.973000	0.42090	0.830000	0.47004	1.093000	0.30939	0.602000	0.29896	0.374000	0.22700	.	-	-		0.786	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	protein_coding	OTTHUMT00000251456.2	T	NM_005228	-	Intron	55087060	1	no_errors	ENST00000275493	ensembl	human	known	74_37	splice_site	SNP	0.976	C	C	55087060	T	C	55087060	5	2	128	1	0	0	0	0	0	0	1	0	4969	1652	57	5	92	5	EGFR	7	55087060	Splice_Site	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	33570276	55087060	104051603	133	9646											
ARPC1B	10095	genome.wustl.edu	37	chr7	98988806	98988806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctcccctcagcgtcgCgactctggcctctgaaacac	8	18	4	1	rs369966813		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:98988806C>T	ENST00000451682.1	+	9	1022	c.713C>T	c.(712-714)gCg>gTg	p.A238V	PDAP1_ENST00000496335.1_5'Flank|ARPC1B_ENST00000252725.5_Missense_Mutation_p.A238V			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	238					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTCAGCGTCGCGACTCTGGCC	0.622													C|||	1	0.000199681	0	0	5008	,	,		18764	0		0	False		,,,				2504	0.001																0								ENSG00000130429	C	VAL/ALA	0,4406		0,0,2203	97	73	81		713	5.6	0	7		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARPC1B	NM_005720.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	238/373	98988806	1,13005	2203	4300	6503	ARPC1B	SO:0001583	missense	0			-	HGNC	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.713C>T	7.37:g.98988806C>T	ENSP00000389631:p.Ala238Val	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q9BU00	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A238V	ENST00000451682.1	37	c.713	CCDS5661.1	7	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946646	0.53186	0.0	1.16E-4	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.325006	0.37577	N	0.002034	T	0.47507	0.1449	N	0.14661	0.345	0.34817	D	0.738346	B;B	0.31227	0.314;0.314	B;B	0.18561	0.022;0.022	T	0.54302	-0.8314	10	0.13853	T	0.58	-16.62	18.3563	0.90358	0.0:1.0:0.0:0.0	.	238;238	A4D275;O15143	.;ARC1B_HUMAN	V	238	ENSP00000252725:A238V;ENSP00000389631:A238V	ENSP00000252725:A238V	A	+	2	0	ARPC1B	98826742	0.323000	0.24643	0.014000	0.15608	0.825000	0.46686	2.976000	0.49289	2.636000	0.89361	0.561000	0.74099	GCG	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1		0.622	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARPC1B	protein_coding	OTTHUMT00000335894.1	C	NM_005720	-		98988806	1	no_errors	ENST00000252725	ensembl	human	known	74_37	missense	SNP	0.794	T	T	98988806	C	T	98988806	3	4	128	1	0	0	0	0	1	0	0	0	970	768	27	1	735	1	ARPC1B	7	98988806	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	43901746	98988806	60149857	134	9647											
SVOPL	136306	genome.wustl.edu	37	chr7	138305823	138305823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccaccattgcaccaaTgcgacacagggagccgctgg	13	13	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:138305823T>G	ENST00000419765.3	-	13	1354	c.1321A>C	c.(1321-1323)Att>Ctt	p.I441L	SVOPL_ENST00000421622.1_Missense_Mutation_p.I321L|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.I289L|SVOPL_ENST00000288513.5_Missense_Mutation_p.I289L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	441						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATTGCACCAATGCGACACAGG	0.577																																																	0								ENSG00000157703						71	58	62					7																	138305823		2203	4300	6503	SVOPL	SO:0001583	missense	0			-	HGNC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1321A>C	7.37:g.138305823T>G	ENSP00000405482:p.Ile441Leu	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79		Missense_Mutation	SNP							pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I289L	ENST00000419765.3	37	c.865	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	T	14.50	2.552525	0.45487	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.33	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050050	0.85682	D	0.000000	T	0.59046	0.2165	L	0.38692	1.165	0.43667	D	0.996095	B;B	0.29590	0.19;0.25	B;B	0.30572	0.085;0.117	T	0.56282	-0.8005	10	0.26408	T	0.33	-12.3084	10.0793	0.42379	0.0:0.0852:0.0:0.9148	.	441;289	Q8N434;Q8N434-2	SVOPL_HUMAN;.	L	289;321;289;441	ENSP00000288513:I289L;ENSP00000412830:I321L;ENSP00000417018:I289L;ENSP00000405482:I441L	ENSP00000288513:I289L	I	-	1	0	SVOPL	137956363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.435000	0.44811	2.014000	0.59158	0.533000	0.62120	ATT	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.577	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	protein_coding	OTTHUMT00000342092.4	T	NM_174959	-		138305823	-1	no_errors	ENST00000288513	ensembl	human	known	74_37	missense	SNP	1.000	G	G	138305823	T	G	138305823	3	3	128	1	0	0	0	0	1	0	0	0	15431	1464	51	5	169	5	SVOPL	7	138305823	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	39317017	138305823	20832840	135	9648											
SVOPL	136306	genome.wustl.edu	37	chr7	138344683	138344683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtacgaaggagcaaaCgaggtcagcaaggagaaata	13	6	1	2	rs538349256		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:138344683C>T	ENST00000419765.3	-	5	429	c.396G>A	c.(394-396)tcG>tcA	p.S132S	SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_Intron|SVOPL_ENST00000288513.5_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	132						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGGAGCAAACGAGGTCAGCA	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		22573	0		0	False		,,,				2504	0																0								ENSG00000157703						183	181	182					7																	138344683		692	1591	2283	SVOPL	SO:0001819	synonymous_variant	0			-	HGNC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.396G>A	7.37:g.138344683C>T		Somatic	0	88	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	65	31.25		Silent	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S132	ENST00000419765.3	37	c.396	CCDS47721.1	7																																																																																			-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.552	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	protein_coding	OTTHUMT00000342092.4	C	NM_174959	-		138344683	-1	no_errors	ENST00000419765	ensembl	human	novel	74_37	silent	SNP	0.767	T	T	138344683	C	T	138344683	2	4	128	1	0	0	0	0	0	0	0	1	15431	523	19	1		1	SVOPL	7	138344683	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	38860	138344683	20793980	136	9649											
KIAA1147	57189	genome.wustl.edu	37	chr7	141364761	141364761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgttgatcttcagcagcGgctgcaggtggtcgtggtgt	15	9	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:141364761G>A	ENST00000536163.1	-	7	1045	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Missense_Mutation_p.P245L	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	349										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CTTCAGCAGCGGCTGCAGGTG	0.567																																																	0								ENSG00000257093						71	77	75					7																	141364761		2056	4192	6248	KIAA1147	SO:0001583	missense	0			-	HGNC	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.1046C>T	7.37:g.141364761G>A	ENSP00000445768:p.Pro349Leu	Somatic	0	24	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q9ULS3	Missense_Mutation	SNP							pfam_DUF2347	p.P349L	ENST00000536163.1	37	c.1046	CCDS47726.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245097	0.79912	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.27	5.27	0.74061	.	0.053651	0.85682	D	0.000000	T	0.52709	0.1751	L	0.60455	1.87	0.80722	D	1	P	0.49307	0.922	B	0.37888	0.26	T	0.56275	-0.8006	9	0.32370	T	0.25	-24.2287	17.0701	0.86571	0.0:0.0:1.0:0.0	.	349	A4D1U4	LCHN_HUMAN	L	349;245	.	ENSP00000297761:P349L	P	-	2	0	KIAA1147	141011230	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.839000	0.69395	2.447000	0.82792	0.561000	0.74099	CCG	-	pfam_DUF2347		0.567	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	protein_coding	OTTHUMT00000349104.1	G		-		141364761	-1	no_errors	ENST00000536163	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141364761	G	A	141364761	3	1	128	1	0	0	0	0	1	0	0	0	8212	1116	39	1	333	1	KIAA1147	7	141364761	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3020078	141364761	17773902	137	9650											
PDIA4	9601	genome.wustl.edu	37	chr7	148701072	148701072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgtcgttggcagtggcGtccatcttggcgatgaccag	16	10	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr7:148701072G>A	ENST00000286091.4	-	10	1984	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	584	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGGCAGTGGCGTCCATCTTGG	0.587																																																	0								ENSG00000155660						110	108	109					7																	148701072		2203	4300	6503	PDIA4	SO:0001819	synonymous_variant	0			-	HGNC	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1752C>T	7.37:g.148701072G>A		Somatic	0	73	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64	A8K4K6|Q549T6	Silent	SNP							pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.D584	ENST00000286091.4	37	c.1752	CCDS5893.1	7																																																																																			-	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase		0.587	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	protein_coding	OTTHUMT00000317077.1	G	NM_004911	-		148701072	-1	no_errors	ENST00000286091	ensembl	human	known	74_37	silent	SNP	0.934	A	A	148701072	G	A	148701072	2	1	128	1	0	0	0	0	0	0	0	1	11672	1136	40	1		1	PDIA4	7	148701072	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	7336311	148701072	10437591	138	9651											
PCM1	5108	genome.wustl.edu	37	chr8	17849059	17849059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaatgtaggtaacaccGtgattcacttagatcaagca	7	9	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:17849059G>A	ENST00000519253.1	+	28	4791	c.4540G>A	c.(4540-4542)Gtg>Atg	p.V1514M	PCM1_ENST00000327578.8_Missense_Mutation_p.V213M|PCM1_ENST00000325083.8_Missense_Mutation_p.V1514M|PCM1_ENST00000524226.1_Missense_Mutation_p.V1460M			Q15154	PCM1_HUMAN	pericentriolar material 1	1514	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGGTAACACCGTGATTCACTT	0.323			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0								ENSG00000078674						70	63	65					8																	17849059		1896	4118	6014	PCM1	SO:0001583	missense	0			-	HGNC		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4540G>A	8.37:g.17849059G>A	ENSP00000431099:p.Val1514Met	Somatic	0	67	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP							NULL	p.V1514M	ENST00000519253.1	37	c.4540		8	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273265	0.59649	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	L	0.59436	1.845	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;0.999;0.994;0.999;0.999;0.997;0.999	D	0.83718	0.0191	10	0.87932	D	0	-11.7394	19.811	0.96545	0.0:0.0:1.0:0.0	.	1514;1514;321;1514;1459;1460;1514	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154	.;.;.;.;.;.;PCM1_HUMAN	M	1514;1514;1460;213	ENSP00000327077:V1514M;ENSP00000431099:V1514M;ENSP00000430521:V1460M;ENSP00000328332:V213M	ENSP00000327077:V1514M	V	+	1	0	PCM1	17893339	1.000000	0.71417	0.996000	0.52242	0.622000	0.37654	9.156000	0.94705	2.756000	0.94617	0.650000	0.86243	GTG	-	NULL		0.323	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	protein_coding	OTTHUMT00000374800.1	G	NM_006197	-		17849059	1	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17849059	G	A	17849059	3	1	128	1	0	0	0	0	1	0	0	0	11586	1145	40	1	4642	1	PCM1	8	17849059	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		17849059	128514963	139	9652											
MCM4	4173	genome.wustl.edu	37	chr8	48878876	48878876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagatggaccgcggccGcattgcagagcccagtgtgt	17	10	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:48878876G>A	ENST00000262105.2	+	8	1171	c.962G>A	c.(961-963)cGc>cAc	p.R321H	MCM4_ENST00000523944.1_Missense_Mutation_p.R321H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	321					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACCGCGGCCGCATTGCAGAG	0.622																																																	0								ENSG00000104738						61	54	56					8																	48878876		2203	4300	6503	MCM4	SO:0001583	missense	0			-	HGNC		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.962G>A	8.37:g.48878876G>A	ENSP00000262105:p.Arg321His	Somatic	0	13	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	Q8NEH1|Q99658	Missense_Mutation	SNP							pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.R321H	ENST00000262105.2	37	c.962	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257484	0.59321	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.04502	3.61;3.61	5.5	4.63	0.57726	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.09335	0.0230	M	0.77103	2.36	0.80722	D	1	P;P	0.42993	0.797;0.688	B;B	0.37943	0.261;0.134	T	0.05699	-1.0869	10	0.54805	T	0.06	-18.7768	14.678	0.68996	0.0701:0.0:0.9299:0.0	.	321;321	B3KMX0;P33991	.;MCM4_HUMAN	H	321;321;308;281	ENSP00000430194:R321H;ENSP00000262105:R321H	ENSP00000262105:R321H	R	+	2	0	MCM4	49041429	1.000000	0.71417	0.986000	0.45419	0.483000	0.33249	9.237000	0.95368	1.458000	0.47871	0.462000	0.41574	CGC	-	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase		0.622	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	protein_coding	OTTHUMT00000377791.1	G	NM_005914	-		48878876	1	no_errors	ENST00000262105	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48878876	G	A	48878876	3	1	128	1	0	0	0	0	1	0	0	0	9391	1087	38	1	992	1	MCM4	8	48878876	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	31029817	48878876	97485146	140	9653											
FABP4	2167	genome.wustl.edu	37	chr8	82395393	82395393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggtacctacaaaagCatcacacattttgtgagttt	6	9	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:82395393C>T	ENST00000256104.4	-	1	105	c.10G>A	c.(10-12)Gct>Act	p.A4T	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	4					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CCTACAAAAGCATCACACATT	0.393																																					NSCLC(35;550 1252 19644 48360)												0								ENSG00000170323						94	90	91					8																	82395393		2202	4300	6502	FABP4	SO:0001583	missense	0			-	HGNC	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.10G>A	8.37:g.82395393C>T	ENSP00000256104:p.Ala4Thr	Somatic	0	44	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	Q6IBA1	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.A4T	ENST00000256104.4	37	c.10	CCDS6230.1	8	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309687	0.60414	.	.	ENSG00000170323	ENST00000256104	T	0.12255	2.7	6.07	6.07	0.98685	Calycin-like (1);Calycin (1);	0.221019	0.47093	D	0.000257	T	0.19087	0.0458	M	0.73962	2.25	0.26376	N	0.976816	B	0.18863	0.031	B	0.13407	0.009	T	0.20773	-1.0265	10	0.15952	T	0.53	.	16.3461	0.83133	0.0:0.8332:0.1668:0.0	.	4	P15090	FABP4_HUMAN	T	4	ENSP00000256104:A4T	ENSP00000256104:A4T	A	-	1	0	FABP4	82557948	0.072000	0.21174	0.609000	0.28983	0.976000	0.68499	3.199000	0.51043	2.885000	0.99019	0.655000	0.94253	GCT	-	superfamily_Calycin-like		0.393	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP4	protein_coding	OTTHUMT00000379368.1	C	NM_001442	-		82395393	-1	no_errors	ENST00000256104	ensembl	human	known	74_37	missense	SNP	0.506	T	T	82395393	C	T	82395393	3	4	128	1	0	0	0	0	1	0	0	0	5361	710	25	2	404	2	FABP4	8	82395393	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	33516517	82395393	63968629	141	9654											
KIAA1429	25962	genome.wustl.edu	37	chr8	95504027	95504027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgttctgttttctctgaCgaaaaatatcatgaggtcgt	9	6	3	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:95504027C>T	ENST00000297591.5	-	22	4994	c.4919G>A	c.(4918-4920)cGt>cAt	p.R1640H	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1640					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCTCTGACGAAAAATATC	0.453																																																	0								ENSG00000164944						159	145	150					8																	95504027		2203	4300	6503	KIAA1429	SO:0001583	missense	0			-	HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4919G>A	8.37:g.95504027C>T	ENSP00000297591:p.Arg1640His	Somatic	0	115	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	96	29.93	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R1640H	ENST00000297591.5	37	c.4919	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.267788	0.95399	.	.	ENSG00000164944	ENST00000297591	D	0.86097	-2.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93199	0.6590	10	0.87932	D	0	-11.8833	19.3054	0.94161	0.0:1.0:0.0:0.0	.	1640	Q69YN4	VIR_HUMAN	H	1640	ENSP00000297591:R1640H	ENSP00000297591:R1640H	R	-	2	0	KIAA1429	95573203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.568000	0.86640	0.650000	0.86243	CGT	-	NULL		0.453	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	C	NM_015496	-		95504027	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95504027	C	T	95504027	3	4	128	1	0	0	0	0	1	0	0	0	8233	536	19	1	531	1	KIAA1429	8	95504027	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	13108634	95504027	50859995	142	9655											
DSCC1	79075	genome.wustl.edu	37	chr8	120862621	120862621	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtgaaaataagtcttaCttttgagctatttgaatcct	6	5	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:120862621C>T	ENST00000313655.4	-	3	701		c.e3+1			NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1						DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATAAGTCTTACTTTTGAGCTA	0.294																																																	0								ENSG00000136982						66	69	68					8																	120862621		2199	4294	6493	DSCC1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.486+1G>A	8.37:g.120862621C>T		Somatic	0	103	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	108	26.35	Q969N5	Splice_Site	SNP							-	e3+1	ENST00000313655.4	37	c.486+1	CCDS6330.1	8	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477460	0.26511	.	.	ENSG00000136982	ENST00000313655	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1941	0.82015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCC1	120931802	0.998000	0.40836	1.000000	0.80357	0.323000	0.28346	3.128000	0.50492	2.508000	0.84585	0.655000	0.94253	.	-	-		0.294	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCC1	protein_coding	OTTHUMT00000381443.1	C	NM_024094	-	Intron	120862621	-1	no_errors	ENST00000313655	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	120862621	C	T	120862621	5	4	128	1	0	0	0	0	0	0	1	0	4772	579	20	2	722	2	DSCC1	8	120862621	Splice_Site	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	25358594	120862621	25501401	143	9656											
NDRG1	10397	genome.wustl.edu	37	chr8	134266812	134266812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggacaccaccatgtcCggcagagcttgggtccatcc	13	13	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:134266812C>T	ENST00000414097.2	-	9	1431	c.564G>A	c.(562-564)ccG>ccA	p.P188P	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Silent_p.P122P|NDRG1_ENST00000323851.7_Silent_p.P188P|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Silent_p.P107P|NDRG1_ENST00000354944.5_Silent_p.P118P	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	188					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCACCATGTCCGGCAGAGCTT	0.522			T	ERG	prostate																																			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0								ENSG00000104419						87	69	75					8																	134266812		2203	4300	6503	NDRG1	SO:0001819	synonymous_variant	0			-	HGNC	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.564G>A	8.37:g.134266812C>T		Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	58	30.95	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP							pfam_Ndr	p.P188	ENST00000414097.2	37	c.564	CCDS34945.1	8																																																																																			-	pfam_Ndr		0.522	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	protein_coding	OTTHUMT00000378805.1	C		-		134266812	-1	no_errors	ENST00000323851	ensembl	human	known	74_37	silent	SNP	0.000	T	T	134266812	C	T	134266812	2	4	128	1	0	0	0	0	0	0	0	1	10253	639	23	1		1	NDRG1	8	134266812	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	13404191	134266812	12097210	144	9657											
BAI1	575	genome.wustl.edu	37	chr8	143562626	143562626	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccccaggactcatcctgCgacggtgtgagctggacgag	13	13	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:143562626C>T	ENST00000517894.1	+	10	2734	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	BAI1_ENST00000323289.5_Nonsense_Mutation_p.R614*			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	614					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)			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)					ACTCATCCTGCGACGGTGTGA	0.607																																																	0								ENSG00000181790						71	79	77					8																	143562626		2013	4188	6201	BAI1	SO:0001587	stop_gained	0			-	HGNC	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.1840C>T	8.37:g.143562626C>T	ENSP00000430945:p.Arg614*	Somatic	0	80	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	53	30.26		Nonsense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R614*	ENST00000517894.1	37	c.1840		8	.	.	.	.	.	.	.	.	.	.	C	40	8.002495	0.98605	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	.	.	.	4.16	-0.734	0.11140	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2383	0.20776	0.2975:0.5284:0.0:0.1741	.	.	.	.	X	614	.	ENSP00000313046:R614X	R	+	1	2	BAI1	143559628	1.000000	0.71417	0.973000	0.42090	0.521000	0.34408	2.301000	0.43628	-0.044000	0.13491	0.313000	0.20887	CGA	-	smart_GPCR_2_extracellular_dom,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2_extracellular_dom		0.607	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	C	NM_001702	-		143562626	1	no_errors	ENST00000323289	ensembl	human	known	74_37	nonsense	SNP	0.995	T	T	143562626	C	T	143562626	4	4	128	1	0	0	0	0	0	1	0	0	1298	760	27	1	1874	1	BAI1	8	143562626	Nonsense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	9295814	143562626	2801396	145	9658											
ZNF623	9831	genome.wustl.edu	37	chr8	144732482	144732482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcggatttcgcatgctgGggagaaaccttacacgtgcg	13	10	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:144732482G>T	ENST00000501748.2	+	1	529	c.440G>T	c.(439-441)gGg>gTg	p.G147V	ZNF623_ENST00000458270.2_Missense_Mutation_p.G107V|ZNF623_ENST00000526926.1_Missense_Mutation_p.G107V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	147					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCGCATGCTGGGGAGAAACCT	0.498																																																	0								ENSG00000183309						107	91	97					8																	144732482		2203	4300	6503	ZNF623	SO:0001583	missense	0			-	HGNC	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.440G>T	8.37:g.144732482G>T	ENSP00000445979:p.Gly147Val	Somatic	0	15	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G147V	ENST00000501748.2	37	c.440	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082104	0.55861	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.23552	1.9;1.9;1.9	4.02	2.2	0.27929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46541	0.1398	M	0.79614	2.46	0.54753	D	0.999984	D	0.65815	0.995	D	0.70016	0.967	T	0.41106	-0.9527	9	0.87932	D	0	-17.9429	8.3959	0.32557	0.1781:0.0:0.8219:0.0	.	147	O75123	ZN623_HUMAN	V	107;107;107;147;147	ENSP00000435232:G107V;ENSP00000411139:G107V;ENSP00000445979:G147V	ENSP00000330358:G107V	G	+	2	0	ZNF623	144803625	0.909000	0.30893	0.827000	0.32855	0.517000	0.34286	2.367000	0.44213	0.477000	0.27464	0.655000	0.94253	GGG	-	pfscan_Znf_C2H2		0.498	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	protein_coding	OTTHUMT00000382522.3	G	NM_014789	-		144732482	1	no_errors	ENST00000501748	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144732482	G	T	144732482	3	4	128	1	0	0	0	0	1	0	0	0	18054	1232	43	3	442	3	ZNF623	8	144732482	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1169856	144732482	1631540	146	9659											
PPP1R16A	84988	genome.wustl.edu	37	chr8	145722812	145722812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgtccttctggaggccGctgcccgaaatgacctggaa	13	11	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr8:145722812G>A	ENST00000292539.4	+	2	1152	c.235G>A	c.(235-237)Gct>Act	p.A79T	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.A79T|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	79						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCTGGAGGCCGCTGCCCGAAA	0.647																																																	0								ENSG00000160972						52	48	50					8																	145722812		2202	4300	6502	PPP1R16A	SO:0001583	missense	0			-	HGNC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.235G>A	8.37:g.145722812G>A	ENSP00000292539:p.Ala79Thr	Somatic	0	52	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	D3DWM5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A79T	ENST00000292539.4	37	c.235	CCDS6429.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.150744|3.150744	0.57151|0.57151	.|.	.|.	ENSG00000160972|ENSG00000255182	ENST00000292539;ENST00000435887|ENST00000532766	T;T|.	0.72725|.	-0.68;-0.68|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Ankyrin repeat-containing domain (4);|.	0.122037|.	0.56097|.	D|.	0.000035|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.80508|0.80508	2.5|2.5	0.54753|0.54753	D|D	0.999989|0.999989	P|.	0.44690|.	0.841|.	P|.	0.47430|.	0.547|.	T|T	0.81473|0.81473	-0.0917|-0.0917	10|6	0.48119|0.87932	T|D	0.1|0	.|.	15.3805|15.3805	0.74651|0.74651	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	79|.	Q96I34|.	PP16A_HUMAN|.	T|W	79|154	ENSP00000292539:A79T;ENSP00000391126:A79T|.	ENSP00000292539:A79T|ENSP00000435686:R154W	A|R	+|-	1|1	0|2	PPP1R16A|CTD-2517M22.14	145693620|145693620	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.079000|0.079000	0.17450|0.17450	2.503000|2.503000	0.45407|0.45407	2.236000|2.236000	0.73375|0.73375	0.462000|0.462000	0.41574|0.41574	GCT|CGG	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom		0.647	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	protein_coding	OTTHUMT00000382459.1	G	NM_032902	-		145722812	1	no_errors	ENST00000292539	ensembl	human	known	74_37	missense	SNP	0.998	A	A	145722812	G	A	145722812	3	1	128	1	0	0	0	0	1	0	0	0	12370	1087	38	1	237	1	PPP1R16A	8	145722812	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	990330	145722812	641210	147	9660											
INSL4	3641	genome.wustl.edu	37	chr9	5233699	5233699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggacaagccttaggtaCgacatcagaattcattccta	8	9	2	2	rs150771132		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:5233699C>T	ENST00000239316.4	+	2	347	c.242C>T	c.(241-243)aCg>aTg	p.T81M		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	81					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GCCTTAGGTACGACATCAGAA	0.403																																																	0								ENSG00000120211	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	77	72	74		242	-4.1	0	9	dbSNP_134	74	0,8600		0,0,4300	no	missense	INSL4	NM_002195.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	81/140	5233699	1,13005	2203	4300	6503	INSL4	SO:0001583	missense	0			-	HGNC		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.242C>T	9.37:g.5233699C>T	ENSP00000239316:p.Thr81Met	Somatic	0	87	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	42	49.40	A8K678|Q5W127	Missense_Mutation	SNP							superfamily_Insulin-like,prints_Placentin,prints_Relaxin	p.T81M	ENST00000239316.4	37	c.242	CCDS6459.1	9	.	.	.	.	.	.	.	.	.	.	C	4.573	0.106524	0.08780	2.27E-4	0.0	ENSG00000120211	ENST00000239316	T	0.16457	2.34	2.03	-4.06	0.03986	.	4.493320	0.02149	N	0.057826	T	0.07683	0.0193	N	0.11756	0.17	0.09310	N	1	B	0.23854	0.092	B	0.08055	0.003	T	0.19031	-1.0318	10	0.14656	T	0.56	.	4.0282	0.09697	0.0:0.285:0.1847:0.5303	.	81	Q14641	INSL4_HUMAN	M	81	ENSP00000239316:T81M	ENSP00000239316:T81M	T	+	2	0	INSL4	5223699	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.430000	0.00473	-1.290000	0.02372	-1.407000	0.01130	ACG	-	superfamily_Insulin-like,prints_Relaxin		0.403	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL4	protein_coding	OTTHUMT00000051616.2	C	NM_002195	rs150771132		5233699	1	no_errors	ENST00000239316	ensembl	human	known	74_37	missense	SNP	0.000	T	T	5233699	C	T	5233699	3	4	128	1	0	0	0	0	1	0	0	0	7770	536	19	1	248	1	INSL4	9	5233699	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		5233699	135979732	148	9661											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18777457	18777457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgaccgagcagcggcGcctggacgacatcctgggga	16	12	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:18777457G>A	ENST00000380548.4	+	19	3569	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1077						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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)		GAGCAGCGGCGCCTGGACGAC	0.667																																																	0								ENSG00000178031						13	17	15					9																	18777457		2070	4185	6255	ADAMTSL1	SO:0001583	missense	0			-	HGNC	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.3230G>A	9.37:g.18777457G>A	ENSP00000369921:p.Arg1077His	Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R1077H	ENST00000380548.4	37	c.3230	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142282	0.77775	.	.	ENSG00000178031	ENST00000380548	T	0.65732	-0.17	5.88	4.99	0.66335	.	0.379473	0.08080	U	1.000000	T	0.51058	0.1652	N	0.14661	0.345	0.80722	D	1	B	0.18968	0.032	B	0.12156	0.007	T	0.23119	-1.0197	10	0.62326	D	0.03	.	15.2282	0.73367	0.0675:0.0:0.9325:0.0	.	1077	Q8N6G6	ATL1_HUMAN	H	1077	ENSP00000369921:R1077H	ENSP00000369921:R1077H	R	+	2	0	ADAMTSL1	18767457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.584000	0.53936	1.499000	0.48617	0.557000	0.71058	CGC	-	NULL		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	protein_coding	OTTHUMT00000401206.1	G		-		18777457	1	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	SNP	0.998	A	A	18777457	G	A	18777457	3	1	128	1	0	0	0	0	1	0	0	0	274	1087	38	1	3308	1	ADAMTSL1	9	18777457	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	13543758	18777457	122435974	149	9662											
IFNW1	3467	genome.wustl.edu	37	chr9	21141119	21141119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctttcaggtagacacGgattccctggaagtacctcc	8	13	2	1	rs141528866	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:21141119G>A	ENST00000380229.2	-	1	1025	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	151					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTAGACACGGATTCCCTGG	0.483													G|||	2	0.000399361	0	0	5008	,	,		20561	0		0.002	False		,,,				2504	0																0								ENSG00000177047	G	CYS/ARG	0,4406		0,0,2203	95	89	91		451	-5.1	0	9	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFNW1	NM_002177.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	151/196	21141119	1,13005	2203	4300	6503	IFNW1	SO:0001583	missense	0			-	HGNC		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.451C>T	9.37:g.21141119G>A	ENSP00000369578:p.Arg151Cys	Somatic	0	39	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.R151C	ENST00000380229.2	37	c.451	CCDS6496.1	9	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098409	0.37048	0.0	1.16E-4	ENSG00000177047	ENST00000380229	T	0.03524	3.9	4.44	-5.11	0.02901	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.357460	0.04432	N	0.369433	T	0.03871	0.0109	L	0.54323	1.7	0.09310	N	1	B	0.29253	0.239	B	0.28232	0.087	T	0.42378	-0.9455	10	0.56958	D	0.05	.	1.0381	0.01553	0.2381:0.1172:0.1844:0.4603	.	151	P05000	IFNW1_HUMAN	C	151	ENSP00000369578:R151C	ENSP00000369578:R151C	R	-	1	0	IFNW1	21131119	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-1.339000	0.02652	-0.706000	0.05028	0.460000	0.39030	CGT	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.483	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNW1	protein_coding	OTTHUMT00000051885.1	G	NM_002177	rs141528866		21141119	-1	no_errors	ENST00000380229	ensembl	human	known	74_37	missense	SNP	0.000	A	A	21141119	G	A	21141119	3	1	128	1	0	0	0	0	1	0	0	0	7554	1116	39	1	140	1	IFNW1	9	21141119	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2363662	21141119	120072312	150	9663											
CCDC107	203260	genome.wustl.edu	37	chr9	35660635	35660635	+	Frame_Shift_Del	DEL	T	T	-													gatggcccagctggacccccTttttgagcggtgaggagagc							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:35660635delT	ENST00000426546.2	+	4	467	c.401delT	c.(400-402)cttfs	p.L134fs	CCDC107_ENST00000327351.2_Frame_Shift_Del_p.L134fs|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378409.3_Frame_Shift_Del_p.L134fs|CCDC107_ENST00000378406.1_Frame_Shift_Del_p.L134fs|ARHGEF39_ENST00000378387.3_3'UTR|RMRP_ENST00000602361.1_lincRNA|CCDC107_ENST00000378407.3_Frame_Shift_Del_p.L134fs|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000421582.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	134						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGACCCCCTTTTTGAGCGG	0.532																																																	0								ENSG00000159884						67	73	71					9																	35660635		2203	4300	6503	CCDC107	SO:0001589	frameshift_variant	0				HGNC	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.401delT	9.37:g.35660635delT	ENSP00000414964:p.Leu134fs	Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Frame_Shift_Del	DEL							NULL	p.F135fs	ENST00000426546.2	37	c.401	CCDS6583.1	9																																																																																			-	NULL		0.532	CCDC107-001	KNOWN	basic|CCDS	protein_coding	CCDC107	protein_coding	OTTHUMT00000052325.1	T	NM_174923			35660635	1	no_errors	ENST00000426546	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	35660635	T	-	35660635	7	5	128	1	0	1	0	1	0	0	0	0	2744	1609	56	0	415	0	CCDC107	9	35660635	Frame_Shift_Del	DEL	T	TCGA-DX-AB32-01A-11D-A417-09	14519516	35660635	105552796	151	9664											
GBA2	57704	genome.wustl.edu	37	chr9	35744370	35744370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactggcctctccagccaCgggtaatagtgcctcccccg	10	16	1	1	rs192753525		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:35744370C>T	ENST00000378103.3	-	3	1014	c.491G>A	c.(490-492)cGt>cAt	p.R164H	GBA2_ENST00000545786.1_Missense_Mutation_p.R164H|GBA2_ENST00000378094.4_Missense_Mutation_p.R164H|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	164					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCAGCCACGGGTAATAGT	0.537													C|||	1	0.000199681	0	0.0014	5008	,	,		20660	0		0	False		,,,				2504	0																0								ENSG00000070610						62	56	58					9																	35744370		2203	4300	6503	GBA2	SO:0001583	missense	0			GMAF=0.0005	HGNC	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.491G>A	9.37:g.35744370C>T	ENSP00000367343:p.Arg164His	Somatic	0	36	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP							pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.R164H	ENST00000378103.3	37	c.491	CCDS6589.1	9	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	32	5.131528	0.94473	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.42	3.6	0.41247	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.93328	3.405	0.58432	D	0.999999	P;D;P	0.89917	0.766;1.0;0.804	B;D;B	0.91635	0.158;0.999;0.244	D	0.86860	0.2029	9	0.72032	D	0.01	-9.7225	11.515	0.50515	0.0:0.8549:0.0:0.1451	.	164;164;164	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	164	.	ENSP00000367334:R164H	R	-	2	0	GBA2	35734370	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	7.520000	0.81821	0.871000	0.35750	0.563000	0.77884	CGT	-	pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type		0.537	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	protein_coding	OTTHUMT00000055456.1	C	NM_020944	rs192753525		35744370	-1	no_errors	ENST00000545786	ensembl	human	known	74_37	missense	SNP	0.984	T	T	35744370	C	T	35744370	3	4	128	1	0	0	0	0	1	0	0	0	6269	536	19	1	2352	1	GBA2	9	35744370	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	83735	35744370	105469061	152	9665											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39099915	39099915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacacttaccattggaGcagaacggcccatcataggc	10	12	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:39099915G>A	ENST00000297668.6	-	18	3061	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Silent_p.C908C	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	996	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TACCATTGGAGCAGAACGGCC	0.468																																																	0								ENSG00000106714						43	36	38					9																	39099915		2202	4297	6499	CNTNAP3	SO:0001819	synonymous_variant	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2988C>T	9.37:g.39099915G>A		Somatic	0	119	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	120	28.40	B1AMA0|Q9C0E9	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.C996	ENST00000297668.6	37	c.2988	CCDS6616.1	9																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	G	NM_033655	-		39099915	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	silent	SNP	0.759	A	A	39099915	G	A	39099915	2	1	128	1	0	0	0	0	0	0	0	1	3650	963	34	2		2	CNTNAP3	9	39099915	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3355545	39099915	102113516	153	9666											
MAMDC2	256691	genome.wustl.edu	37	chr9	72758568	72758568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacttgcagtattgtctgCgttttcattatgccatctat	7	8	3	0	rs368156190		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:72758568C>T	ENST00000377182.4	+	9	1854	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	413	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTATTGTCTGCGTTTTCATTA	0.438																																																	0								ENSG00000165072	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	116	106	110		1237	5.9	1	9	dbSNP_134	110	0,8600		0,0,4300	no	missense	MAMDC2	NM_153267.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	413/687	72758568	1,13005	2203	4300	6503	MAMDC2	SO:0001583	missense	0			-	HGNC	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1237C>T	9.37:g.72758568C>T	ENSP00000366387:p.Arg413Cys	Somatic	0	53	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	57	16.18	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP							pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.R413C	ENST00000377182.4	37	c.1237	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081853	0.76528	2.27E-4	0.0	ENSG00000165072	ENST00000377182	T	0.02552	4.25	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.043631	0.85682	D	0.000000	T	0.14743	0.0356	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.00011	-1.2439	10	0.54805	T	0.06	-10.1709	14.4388	0.67301	0.0:0.93:0.0:0.07	.	413	Q7Z304	MAMC2_HUMAN	C	413	ENSP00000366387:R413C	ENSP00000366387:R413C	R	+	1	0	MAMDC2	71948388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.035000	0.41155	2.803000	0.96430	0.650000	0.86243	CGT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.438	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	protein_coding	OTTHUMT00000052600.1	C	NM_153267	-		72758568	1	no_errors	ENST00000377182	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72758568	C	T	72758568	3	4	128	1	0	0	0	0	1	0	0	0	9205	768	27	1	1271	1	MAMDC2	9	72758568	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	33658653	72758568	68454863	154	9667											
TLE1	7088	genome.wustl.edu	37	chr9	84228347	84228347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgagacctggacggagGcctggagtggcgctggtgcc	18	11	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:84228347G>A	ENST00000376499.3	-	12	2072	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Silent_p.G11G|TLE1_ENST00000376484.1_Silent_p.G11G	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	336	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTGGACGGAGGCCTGGAGTGG	0.582																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								ENSG00000196781						99	98	98					9																	84228347		2203	4300	6503	TLE1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1008C>T	9.37:g.84228347G>A		Somatic	0	62	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.82	A8K495|Q5T3G4|Q969V9	Silent	SNP							pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G336	ENST00000376499.3	37	c.1008	CCDS6661.1	9																																																																																			-	NULL		0.582	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	protein_coding	OTTHUMT00000055407.1	G	NM_005077	-		84228347	-1	no_errors	ENST00000376499	ensembl	human	known	74_37	silent	SNP	0.927	A	A	84228347	G	A	84228347	2	1	128	1	0	0	0	0	0	0	0	1	15945	1190	42	2		2	TLE1	9	84228347	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	11469779	84228347	56985084	155	9668											
ALDOB	229	genome.wustl.edu	37	chr9	104187758	104187758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagctgcaggaacagtaCggtggagagctgttacggtg	16	7	0	1	rs565827286		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:104187758C>T	ENST00000374855.4	-	7	900	c.776G>A	c.(775-777)cGt>cAt	p.R259H	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	259					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGGAACAGTACGGTGGAGAGC	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		21553	0		0	False		,,,				2504	0																0								ENSG00000136872						233	184	200					9																	104187758		2203	4300	6503	ALDOB	SO:0001583	missense	0			-	HGNC	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.776G>A	9.37:g.104187758C>T	ENSP00000363988:p.Arg259His	Somatic	0	75	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	77	22.22	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP							pfam_Aldolase_I	p.R259H	ENST00000374855.4	37	c.776	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668552	0.67814	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.89681	-2.55	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89649	0.6776	M	0.85373	2.75	0.80722	D	1	P	0.44690	0.841	B	0.33690	0.168	D	0.91351	0.5104	10	0.87932	D	0	-5.352	19.6279	0.95687	0.0:1.0:0.0:0.0	.	259	P05062	ALDOB_HUMAN	H	259;186;259	ENSP00000363988:R259H	ENSP00000363986:R186H	R	-	2	0	ALDOB	103227579	1.000000	0.71417	0.858000	0.33744	0.290000	0.27261	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	CGT	-	pfam_Aldolase_I		0.507	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	protein_coding	OTTHUMT00000053434.2	C		-		104187758	-1	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104187758	C	T	104187758	3	4	128	1	0	0	0	0	1	0	0	0	508	536	19	1	330	1	ALDOB	9	104187758	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	19959411	104187758	37025673	156	9669											
CYLC2	1539	genome.wustl.edu	37	chr9	105767654	105767654	+	Frame_Shift_Del	DEL	A	A	-													gaaaagaaggatgaggatggAaaaaaagatgcaaacaaagg							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:105767654delA	ENST00000374798.3	+	5	811	c.741delA	c.(739-741)ggafs	p.G247fs	CYLC2_ENST00000487798.1_Frame_Shift_Del_p.G247fs	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	247	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGAGGATGGAAAAAAAGATG	0.363																																																	0								ENSG00000155833						111	106	108					9																	105767654		2203	4300	6503	CYLC2	SO:0001589	frameshift_variant	0				HGNC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.741delA	9.37:g.105767654delA	ENSP00000420256:p.Gly247fs	Somatic	0	73	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	56	12.50	B2R8F4|Q5VVJ9	Frame_Shift_Del	DEL							NULL	p.D250fs	ENST00000374798.3	37	c.741	CCDS35085.1	9																																																																																			-	NULL		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	A	NM_001340			105767654	1	no_errors	ENST00000374798	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	105767654	A	-	105767654	7	5	128	1	0	1	0	1	0	0	0	0	4144	233	9	0	759	0	CYLC2	9	105767654	Frame_Shift_Del	DEL	A	TCGA-DX-AB32-01A-11D-A417-09	1579896	105767654	35445777	157	9670											
ABCA1	19	genome.wustl.edu	37	chr9	107581064	107581064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttcttcagaaacagggaGgagcccacacagcacagctt	11	11	2	1	rs547738950		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:107581064G>T	ENST00000374736.3	-	23	3736	c.3342C>A	c.(3340-3342)tcC>tcA	p.S1114S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1114	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GAAACAGGGAGGAGCCCACAC	0.532																																																	0								ENSG00000165029						103	91	95					9																	107581064		2203	4300	6503	ABCA1	SO:0001819	synonymous_variant	0			-	HGNC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3342C>A	9.37:g.107581064G>T		Somatic	0	47	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1114	ENST00000374736.3	37	c.3342	CCDS6762.1	9																																																																																			-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	protein_coding	OTTHUMT00000053491.1	G	NM_005502	-		107581064	-1	no_errors	ENST00000374736	ensembl	human	known	74_37	silent	SNP	1.000	T	T	107581064	G	T	107581064	2	4	128	1	0	0	0	0	0	0	0	1	28	987	35	3		3	ABCA1	9	107581064	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1813410	107581064	33632367	158	9671											
AKAP2	11217	genome.wustl.edu	37	chr9	112900711	112900711	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccgagcagctcaggaaAgggaagaggagctgaagagg	17	6	1	4			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:112900711A>C	ENST00000259318.7	+	2	2401	c.2194A>C	c.(2194-2196)Agg>Cgg	p.R732R	AKAP2_ENST00000510514.5_Silent_p.R963R|PALM2-AKAP2_ENST00000374530.3_Silent_p.R963R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R963R|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Silent_p.R821R|AKAP2_ENST00000555236.1_Silent_p.R963R|AKAP2_ENST00000434623.2_Silent_p.R821R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	732										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGCTCAGGAAAGGGAAGAGGA	0.522																																																	0								ENSG00000157654						85	79	81					9																	112900711		2203	4300	6503	PALM2-AKAP2	SO:0001819	synonymous_variant	0			-	HGNC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2194A>C	9.37:g.112900711A>C		Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP							pfam_Paralemmin,pfam_RII_binding_1	p.R963	ENST00000259318.7	37	c.2887	CCDS48003.1	9																																																																																			-	NULL		0.522	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	protein_coding	OTTHUMT00000346067.3	A	NM_001004065	-		112900711	1	no_errors	ENST00000374530	ensembl	human	known	74_37	silent	SNP	0.995	C	C	112900711	A	C	112900711	2	2	128	1	0	0	0	0	0	0	0	1	451	63	3	5		5	AKAP2	9	112900711	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	5319647	112900711	28312720	159	9672											
TNC	3371	genome.wustl.edu	37	chr9	117825395	117825395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcataggttccatctggCgtggtccagttcagtctgag	13	9	4	1	rs150370072	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:117825395C>T	ENST00000350763.4	-	13	4245	c.3834G>A	c.(3832-3834)acG>acA	p.T1278T	TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Silent_p.T1278T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1278	Fibronectin type-III 8. {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						TTCCATCTGGCGTGGTCCAGT	0.537																																																	0								ENSG00000041982	C		0,4406		0,0,2203	123	91	102		3834	0.6	1	9	dbSNP_134	102	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	TNC	NM_002160.3		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		1278/2202	117825395	7,12999	2203	4300	6503	TNC	SO:0001819	synonymous_variant	0			-	HGNC		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.3834G>A	9.37:g.117825395C>T		Somatic	0	33	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.T1278	ENST00000350763.4	37	c.3834	CCDS6811.1	9																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.537	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160	rs150370072		117825395	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	silent	SNP	0.520	T	T	117825395	C	T	117825395	2	4	128	1	0	0	0	0	0	0	0	1	16277	755	27	1		1	TNC	9	117825395	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4924684	117825395	23388036	160	9673											
C9orf9	11092	genome.wustl.edu	37	chr9	135763753	135763753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgtggtcagcctcatcCccctcatcctagacttaatg	9	15	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:135763753C>A	ENST00000372136.3	+	4	871	c.424C>A	c.(424-426)Ccc>Acc	p.P142T	C9orf9_ENST00000356311.5_Missense_Mutation_p.P142T|C9orf9_ENST00000350499.6_Missense_Mutation_p.P142T			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	142						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		CAGCCTCATCCCCCTCATCCT	0.617																																																	1	Unknown(1)	bone(1)						ENSG00000165698						93	73	80					9																	135763753		2203	4300	6503	C9orf9	SO:0001583	missense	0			-	HGNC		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.424C>A	9.37:g.135763753C>A	ENSP00000361209:p.Pro142Thr	Somatic	0	90	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	Q9UGQ0	Missense_Mutation	SNP							NULL	p.P142T	ENST00000372136.3	37	c.424		9	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852998	0.71719	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	T;T;T	0.66638	-0.22;-0.22;-0.22	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	P;D	0.91635	0.9;0.999	D	0.84054	0.0371	10	0.72032	D	0.01	-35.9113	17.3573	0.87340	0.0:1.0:0.0:0.0	.	142;142	Q96E40-2;Q96E40	.;CI009_HUMAN	T	142	ENSP00000361209:P142T;ENSP00000348659:P142T;ENSP00000298546:P142T	ENSP00000298546:P142T	P	+	1	0	C9orf9	134753574	1.000000	0.71417	0.998000	0.56505	0.508000	0.34012	5.962000	0.70364	2.425000	0.82216	0.561000	0.74099	CCC	-	NULL		0.617	C9orf9-001	KNOWN	basic	protein_coding	C9orf9	protein_coding	OTTHUMT00000054806.1	C	NM_018956	-		135763753	1	no_errors	ENST00000356311	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135763753	C	A	135763753	3	1	128	1	0	0	0	0	1	0	0	0	2506	623	22	3	434	3	C9orf9	9	135763753	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	17938358	135763753	5449678	161	9674											
CACNA1B	774	genome.wustl.edu	37	chr9	140865850	140865850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggatcccccttcgcccGcgccagcctcaagagcggga	11	18	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr9:140865850G>A	ENST00000371372.1	+	11	1494	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R450H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R450H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R451H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R451H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	450					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)	CCCTTCGCCCGCGCCAGCCTC	0.612																																																	0								ENSG00000148408						36	41	39					9																	140865850		1964	4132	6096	CACNA1B	SO:0001583	missense	0			-	HGNC	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.1349G>A	9.37:g.140865850G>A	ENSP00000360423:p.Arg450His	Somatic	0	115	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	49	35.53	B1AQK5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R451H	ENST00000371372.1	37	c.1352	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153399	0.57259	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97041	-4.21;-4.22;-4.21;-4.18;-4.18	5.26	5.26	0.73747	.	1.023770	0.07831	N	0.961311	D	0.98588	0.9528	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96217	0.9157	10	0.87932	D	0	.	18.8606	0.92270	0.0:0.0:1.0:0.0	.	450	B1AQK6	.	H	450;450;450;451;451	ENSP00000360423:R450H;ENSP00000277551:R450H;ENSP00000360414:R450H;ENSP00000360408:R451H;ENSP00000360406:R451H	ENSP00000277551:R450H	R	+	2	0	CACNA1B	139985671	1.000000	0.71417	0.178000	0.23040	0.001000	0.01503	9.645000	0.98471	2.448000	0.82819	0.462000	0.41574	CGC	-	NULL		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718	-		140865850	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	0.999	A	A	140865850	G	A	140865850	3	1	128	1	0	0	0	0	1	0	0	0	2541	1087	38	1	1391	1	CACNA1B	9	140865850	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	5102097	140865850	347581	162	9675											
ZMYND11	10771	genome.wustl.edu	37	chr10	226045	226045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacggaaccagaagcagatTgccaacattgaccgtattac	8	10	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:226045T>C	ENST00000397962.3	+	2	521	c.93T>C	c.(91-93)atT>atC	p.I31I	ZMYND11_ENST00000403354.1_Silent_p.I31I|ZMYND11_ENST00000602682.1_Silent_p.I31I|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000381591.1_Silent_p.I31I|ZMYND11_ENST00000509513.2_Silent_p.I31I|ZMYND11_ENST00000558098.2_Silent_p.I31I|ZMYND11_ENST00000402736.1_Silent_p.I31I|ZMYND11_ENST00000397959.3_Silent_p.I31I|ZMYND11_ENST00000309776.4_5'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	31					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAGCAGATTGCCAACATTG	0.383																																																	0								ENSG00000015171						122	111	114					10																	226045		1568	3582	5150	ZMYND11	SO:0001819	synonymous_variant	0			-	HGNC	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.93T>C	10.37:g.226045T>C		Somatic	0	106	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	51	27.14	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP							pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.I31	ENST00000397962.3	37	c.93	CCDS7052.2	10																																																																																			-	NULL		0.383	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	protein_coding	OTTHUMT00000046382.4	T	NM_006624	-		226045	1	no_errors	ENST00000381591	ensembl	human	known	74_37	silent	SNP	1.000	C	C	226045	T	C	226045	2	2	128	1	0	0	0	0	0	0	0	1	17713	1800	63	5		5	ZMYND11	10	226045	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09		226045	135308702	163	9676											
ADARB2	105	genome.wustl.edu	37	chr10	1262943	1262943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctcccccagcaggaCgccgtcccaggtctgcactg	11	18	1	0	rs151300637		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:1262943C>T	ENST00000381312.1	-	7	1955	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	544	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCCAGCAGGACGCCGTCCCAG	0.687																																																	0								ENSG00000185736	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	53	45	47		1630	-0.1	1	10	dbSNP_134	47	0,8600		0,0,4300	no	missense	ADARB2	NM_018702.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	544/740	1262943	1,13005	2203	4300	6503	ADARB2	SO:0001583	missense	0			-	HGNC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1630G>A	10.37:g.1262943C>T	ENSP00000370713:p.Val544Ile	Somatic	0	118	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	51	35.00	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.V544I	ENST00000381312.1	37	c.1630	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441435	0.43326	2.27E-4	0.0	ENSG00000185736	ENST00000381312	D	0.93488	-3.23	5.31	-0.102	0.13613	Adenosine deaminase/editase (3);	0.191423	0.44902	N	0.000418	D	0.87325	0.6149	L	0.38531	1.155	0.80722	D	1	B	0.12630	0.006	B	0.21546	0.035	T	0.74269	-0.3720	10	0.33141	T	0.24	-27.591	9.0992	0.36658	0.0:0.5989:0.0:0.4011	.	544	Q9NS39	RED2_HUMAN	I	544	ENSP00000370713:V544I	ENSP00000370713:V544I	V	-	1	0	ADARB2	1252943	1.000000	0.71417	0.989000	0.46669	0.867000	0.49689	2.661000	0.46758	-0.333000	0.08476	-0.657000	0.03884	GTC	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.687	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	protein_coding	OTTHUMT00000046426.1	C	NM_018702	rs151300637		1262943	-1	no_errors	ENST00000381312	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1262943	C	T	1262943	3	4	128	1	0	0	0	0	1	0	0	0	283	536	19	1	605	1	ADARB2	10	1262943	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1036898	1262943	134271804	164	9677											
RBM17	84991	genome.wustl.edu	37	chr10	6157416	6157416	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttgtttgcctttcagCggttgttgacttgaatggga	12	6	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Splice_Site_p.A368V	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	368	RRM.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGCCTTTCAGCGGTTGTTGAC	0.353																																																	0								ENSG00000134453						173	159	164					10																	6157416		2203	4300	6503	RBM17	SO:0001630	splice_region_variant	0			-	HGNC	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1103-1C>T	10.37:g.6157416C>T		Somatic	0	82	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	52	32.47	Q96GY6	Missense_Mutation	SNP							pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom	p.A368V	ENST00000446108.1	37	c.1103	CCDS7077.1	10	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653982	0.88056	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.93	4.93	0.64822	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91544	0.5252	8	.	.	.	.	18.519	0.90944	0.0:1.0:0.0:0.0	.	368	Q96I25	SPF45_HUMAN	V	368	.	.	A	+	2	0	RBM17	6197422	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.091000	0.76923	2.424000	0.82194	0.655000	0.94253	GCG	-	smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45		0.353	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM17	protein_coding	OTTHUMT00000046635.1	C	NM_032905	-	Missense_Mutation	6157416	1	no_errors	ENST00000379888	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6157416	C	T	6157416	5	4	128	1	0	0	0	0	0	0	1	0	13127	782	27	1	1145	1	RBM17	10	6157416	Splice_Site	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4894473	6157416	129377331	165	9678											
SFMBT2	57713	genome.wustl.edu	37	chr10	7213964	7213964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggggtggccggcgcaCgggctctgagccgctccgca	17	15	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:7213964C>T	ENST00000361972.4	-	19	2398	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.V770M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	770					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGCCGGCGCACGGGCTCTGAG	0.761																																																	0								ENSG00000198879						8	10	9					10																	7213964		2041	3987	6028	SFMBT2	SO:0001583	missense	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2308G>A	10.37:g.7213964C>T	ENSP00000355109:p.Val770Met	Somatic	0	49	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	A7MD09|Q9HCF5	Missense_Mutation	SNP							pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.V770M	ENST00000361972.4	37	c.2308	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091346	0.36855	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.14640	2.49;2.49	5.25	1.27	0.21489	.	0.968493	0.08608	N	0.920495	T	0.08133	0.0203	L	0.29908	0.895	0.19945	N	0.999943	P	0.36027	0.533	B	0.23419	0.046	T	0.30736	-0.9968	10	0.48119	T	0.1	.	5.2985	0.15766	0.1201:0.648:0.1162:0.1157	.	770	Q5VUG0	SMBT2_HUMAN	M	770	ENSP00000355109:V770M;ENSP00000380353:V770M	ENSP00000355109:V770M	V	-	1	0	SFMBT2	7253970	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.645000	0.24782	-0.029000	0.13827	-0.264000	0.10439	GTG	-	NULL		0.761	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	C	NM_001029880	-		7213964	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	0.002	T	T	7213964	C	T	7213964	3	4	128	1	0	0	0	0	1	0	0	0	14166	536	19	1	388	1	SFMBT2	10	7213964	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1056548	7213964	128320783	166	9679											
FAM188A	80013	genome.wustl.edu	37	chr10	15902295	15902295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctctttagtcagttcggAcatgatgaggaaccggcggg	14	9	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:15902295A>G	ENST00000277632.3	-	1	224	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	2					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GTCAGTTCGGACATGATGAGG	0.637																																					Pancreas(159;946 1953 2111 4475 22008)												0								ENSG00000148481						31	30	30					10																	15902295		2203	4300	6503	FAM188A	SO:0001583	missense	0			-	HGNC	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.4T>C	10.37:g.15902295A>G	ENSP00000277632:p.Ser2Pro	Somatic	0	69	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP							NULL	p.S2P	ENST00000277632.3	37	c.4	CCDS7110.1	10	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317588	0.60524	.	.	ENSG00000148481	ENST00000277632	T	0.34472	1.36	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.44542	1.39	0.80722	D	1	P	0.42039	0.769	B	0.37346	0.247	T	0.06127	-1.0844	10	0.40728	T	0.16	-6.5684	10.6954	0.45896	1.0:0.0:0.0:0.0	.	2	Q9H8M7	F188A_HUMAN	P	2	ENSP00000277632:S2P	ENSP00000277632:S2P	S	-	1	0	FAM188A	15942301	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.610000	0.46325	2.012000	0.59069	0.533000	0.62120	TCC	-	NULL		0.637	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188A	protein_coding	OTTHUMT00000046990.2	A	NM_024948	-		15902295	-1	no_errors	ENST00000277632	ensembl	human	known	74_37	missense	SNP	1.000	G	G	15902295	A	G	15902295	3	3	128	1	0	0	0	0	1	0	0	0	5516	275	10	5	1393	5	FAM188A	10	15902295	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	8688331	15902295	119632452	167	9680											
ARMC3	219681	genome.wustl.edu	37	chr10	23287301	23287301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctgtcaccgcaactgCgtgtgacgttgaagcccgga	12	13	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:23287301C>T	ENST00000298032.5	+	11	1484	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.A467V|ARMC3_ENST00000409049.3_Missense_Mutation_p.A467V|ARMC3_ENST00000376528.4_Missense_Mutation_p.A204V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	467						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						ACCGCAACTGCGTGTGACGTT	0.458																																																	0								ENSG00000165309						59	57	57					10																	23287301		2203	4300	6503	ARMC3	SO:0001583	missense	0			-	HGNC	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.1400C>T	10.37:g.23287301C>T	ENSP00000298032:p.Ala467Val	Somatic	0	12	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP							pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A467V	ENST00000298032.5	37	c.1400	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397573	0.25205	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.65916	-0.18;-0.18;1.41;0.6	5.44	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.341113	0.33092	N	0.005283	T	0.52419	0.1733	L	0.52759	1.655	0.35458	D	0.796233	B;B	0.18310	0.006;0.027	B;B	0.13407	0.009;0.004	T	0.55302	-0.8162	10	0.22706	T	0.39	-18.7917	9.9229	0.41474	0.0:0.74:0.173:0.087	.	467;467	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	467;467;403;467;204	ENSP00000298032:A467V;ENSP00000386943:A467V;ENSP00000387288:A467V;ENSP00000365711:A204V	ENSP00000298032:A467V	A	+	2	0	ARMC3	23327307	0.824000	0.29247	0.034000	0.17996	0.010000	0.07245	1.449000	0.35123	1.128000	0.42052	0.467000	0.42956	GCG	-	superfamily_ARM-type_fold		0.458	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	protein_coding	OTTHUMT00000047197.2	C	NM_173081	-		23287301	1	no_errors	ENST00000298032	ensembl	human	known	74_37	missense	SNP	0.675	T	T	23287301	C	T	23287301	3	4	128	1	0	0	0	0	1	0	0	0	952	768	27	1	1438	1	ARMC3	10	23287301	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	7385006	23287301	112247446	168	9681											
PDSS1	23590	genome.wustl.edu	37	chr10	27031457	27031457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctatgatcatgcgacGgttcagtttgcctggagatg	13	7	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:27031457G>A	ENST00000376215.5	+	11	1111	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	PDSS1_ENST00000376203.5_Silent_p.T289T|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	353					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						ATCATGCGACGGTTCAGTTTG	0.378																																																	0								ENSG00000148459						87	83	85					10																	27031457		2203	4300	6503	PDSS1	SO:0001583	missense	0			-	HGNC	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.1058G>A	10.37:g.27031457G>A	ENSP00000365388:p.Arg353Gln	Somatic	0	45	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP							pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.R353Q	ENST00000376215.5	37	c.1058	CCDS31168.1	10	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032080	0.93575	.	.	ENSG00000148459	ENST00000376215;ENST00000396343	T	0.62232	0.04	4.94	4.94	0.65067	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	L	0.52759	1.655	0.80722	D	1	P;P	0.50710	0.659;0.938	B;P	0.50231	0.327;0.635	T	0.71550	-0.4559	10	0.62326	D	0.03	-21.3888	18.506	0.90897	0.0:0.0:1.0:0.0	.	91;353	B4DJY1;Q5T2R2	.;DPS1_HUMAN	Q	353;314	ENSP00000365388:R353Q	ENSP00000365388:R353Q	R	+	2	0	PDSS1	27071463	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	9.485000	0.97942	2.443000	0.82685	0.650000	0.86243	CGG	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.378	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS1	protein_coding	OTTHUMT00000047276.1	G		-		27031457	1	no_errors	ENST00000376215	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27031457	G	A	27031457	3	1	128	1	0	0	0	0	1	0	0	0	11695	1116	39	1	1100	1	PDSS1	10	27031457	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3744156	27031457	108503290	169	9682											
EPC1	80314	genome.wustl.edu	37	chr10	32580192	32580192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcataagtaggtttcattgGctgtctctgtgccataacct	10	9	2	0	rs377321302		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:32580192G>A	ENST00000263062.8	-	6	1143	c.874C>T	c.(874-876)Cca>Tca	p.P292S	EPC1_ENST00000375110.2_Missense_Mutation_p.P242S|EPC1_ENST00000319778.6_Missense_Mutation_p.P292S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	292					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTTTCATTGGCTGTCTCTGT	0.338																																																	0								ENSG00000120616	G	SER/PRO	0,4406		0,0,2203	123	118	119		874	4.7	1	10		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPC1	NM_025209.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	292/837	32580192	1,13005	2203	4300	6503	EPC1	SO:0001583	missense	0			-	HGNC	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.874C>T	10.37:g.32580192G>A	ENSP00000263062:p.Pro292Ser	Somatic	0	132	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	54	41.30	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP							pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.P292S	ENST00000263062.8	37	c.874	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402984	0.42613	0.0	1.16E-4	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.65364	-0.15;-0.15;-0.15	5.62	4.7	0.59300	.	0.110120	0.64402	D	0.000004	T	0.50326	0.1609	L	0.28458	0.855	0.45307	D	0.998306	B;P;B;B	0.47302	0.006;0.893;0.375;0.068	B;B;B;B	0.41510	0.01;0.359;0.236;0.04	T	0.44967	-0.9293	10	0.16896	T	0.51	-2.2351	16.0665	0.80887	0.0:0.0:0.8648:0.1352	.	292;242;292;292	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	242;292;292	ENSP00000364251:P242S;ENSP00000318559:P292S;ENSP00000263062:P292S	ENSP00000263062:P292S	P	-	1	0	EPC1	32620198	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.291000	0.78721	1.471000	0.48121	0.467000	0.42956	CCA	-	NULL		0.338	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	protein_coding	OTTHUMT00000047484.1	G		-		32580192	-1	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32580192	G	A	32580192	3	1	128	1	0	0	0	0	1	0	0	0	5162	1203	42	2	1676	2	EPC1	10	32580192	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	5548735	32580192	102954555	170	9683											
C10orf68	79741	genome.wustl.edu	37	chr10	32983811	32983811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatctccttatgtagctcaTgatgaagaaccaggcaaaaa	8	9	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:32983811T>C	ENST00000375030.2	+	9	912	c.294T>C	c.(292-294)caT>caC	p.H98H	C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375025.4_Silent_p.H90H			Q9H943	CJ068_HUMAN		90										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATGTAGCTCATGATGAAGAAC	0.333																																																	0								ENSG00000150076						44	42	43					10																	32983811		2201	4299	6500	C10orf68	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000375030.2:c.294T>C	10.37:g.32983811T>C		Somatic	0	144	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	76	36.89	B0QZ71|Q08AN7|Q8N7T7	Silent	SNP							NULL	p.H90	ENST00000375030.2	37	c.270		10																																																																																			-	NULL		0.333	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	protein_coding	OTTHUMT00000313999.2	T		-		32983811	1	no_errors	ENST00000375025	ensembl	human	known	74_37	silent	SNP	0.000	C	C	32983811	T	C	32983811	2	2	128	1	0	0	0	0	0	0	0	1	1615	1461	51	5		5	C10orf68	10	32983811	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	403619	32983811	102550936	171	9684											
TET1	80312	genome.wustl.edu	37	chr10	70405282	70405282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttaatagctgcaaagcTatcctctacactgtaagaaa	6	9	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:70405282T>C	ENST00000373644.4	+	4	3005	c.2796T>C	c.(2794-2796)gcT>gcC	p.A932A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	932					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						GCTGCAAAGCTATCCTCTACA	0.438																																																	0								ENSG00000138336						72	73	73					10																	70405282		2203	4300	6503	TET1	SO:0001819	synonymous_variant	0			-	HGNC	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.2796T>C	10.37:g.70405282T>C		Somatic	0	64	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	27	46.00	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP							pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A932	ENST00000373644.4	37	c.2796	CCDS7281.1	10																																																																																			-	NULL		0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	T	NM_030625	-		70405282	1	no_errors	ENST00000373644	ensembl	human	known	74_37	silent	SNP	0.001	C	C	70405282	T	C	70405282	2	2	128	1	0	0	0	0	0	0	0	1	15776	1509	53	5		5	TET1	10	70405282	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	37421471	70405282	65129465	172	9685											
UNC5B	219699	genome.wustl.edu	37	chr10	73046509	73046509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccaacttcctgctcaccAtcgaccacaacctcatcatc	2	19	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:73046509A>G	ENST00000335350.6	+	5	1032	c.616A>G	c.(616-618)Atc>Gtc	p.I206V	UNC5B_ENST00000373192.4_Missense_Mutation_p.I206V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	206	Ig-like C2-type.				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						CCTGCTCACCATCGACCACAA	0.612																																																	0								ENSG00000107731						254	222	233					10																	73046509		2203	4300	6503	UNC5B	SO:0001583	missense	0			-	HGNC	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.616A>G	10.37:g.73046509A>G	ENSP00000334329:p.Ile206Val	Somatic	0	54	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP							pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.I206V	ENST00000335350.6	37	c.616	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690215	0.68271	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.66638	-0.22;-0.22	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101665	0.64402	D	0.000003	T	0.69672	0.3137	N	0.20845	0.615	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.80764	0.99;0.994	T	0.68857	-0.5298	10	0.29301	T	0.29	-22.9808	15.4961	0.75653	1.0:0.0:0.0:0.0	.	206;206	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	206	ENSP00000334329:I206V;ENSP00000362288:I206V	ENSP00000334329:I206V	I	+	1	0	UNC5B	72716515	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.505000	0.60421	2.072000	0.62099	0.459000	0.35465	ATC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.612	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	A	NM_170744	-		73046509	1	no_errors	ENST00000335350	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73046509	A	G	73046509	3	3	128	1	0	0	0	0	1	0	0	0	16999	217	8	5	634	5	UNC5B	10	73046509	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	2641227	73046509	62488238	173	9686											
BTRC	8945	genome.wustl.edu	37	chr10	103291028	103291028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaacaaacctcctgacGggaatgctcctcccaactct	5	15	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:103291028G>A	ENST00000370187.3	+	7	896	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	BTRC_ENST00000393441.4_Missense_Mutation_p.G219R|BTRC_ENST00000408038.2_Missense_Mutation_p.G224R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G260W(3)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACCTCCTGACGGGAATGCTCC	0.313																																																	3	Substitution - Missense(3)	lung(3)						ENSG00000166167						96	108	104					10																	103291028		2203	4300	6503	BTRC	SO:0001583	missense	0			-	HGNC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.778G>A	10.37:g.103291028G>A	ENSP00000359206:p.Gly260Arg	Somatic	0	92	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	91	22.88	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G260R	ENST00000370187.3	37	c.778	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836802	0.50951	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.22134	1.97;1.97;1.97	5.44	5.44	0.79542	F-box domain, Skp2-like (1);	0.071942	0.56097	D	0.000021	T	0.16981	0.0408	L	0.34521	1.04	0.53005	D	0.999969	B;P;B	0.42827	0.029;0.791;0.296	B;B;B	0.35607	0.011;0.206;0.106	T	0.04565	-1.0942	10	0.18710	T	0.47	-6.4172	19.2602	0.93964	0.0:0.0:1.0:0.0	.	234;224;260	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	R	260;219;224	ENSP00000359206:G260R;ENSP00000377088:G219R;ENSP00000385339:G224R	ENSP00000359206:G260R	G	+	1	0	BTRC	103281018	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.853000	0.69496	2.552000	0.86080	0.484000	0.47621	GGG	-	superfamily_F-box_dom		0.313	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	protein_coding	OTTHUMT00000049936.1	G	NM_033637	-		103291028	1	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103291028	G	A	103291028	3	1	128	1	0	0	0	0	1	0	0	0	1571	1116	39	1	804	1	BTRC	10	103291028	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	30244519	103291028	32243719	174	9687											
GBF1	8729	genome.wustl.edu	37	chr10	104126938	104126938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcacaaccacaatgttCgtaaacagaatgcacccatg	6	13	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:104126938C>T	ENST00000369983.3	+	20	2787	c.2527C>T	c.(2527-2529)Cgt>Tgt	p.R843C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	843	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACAATGTTCGTAAACAGAA	0.498																																																	0								ENSG00000107862						190	167	174					10																	104126938		2203	4300	6503	GBF1	SO:0001583	missense	0			-	HGNC	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2527C>T	10.37:g.104126938C>T	ENSP00000359000:p.Arg843Cys	Somatic	0	47	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.00	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP							pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.R843C	ENST00000369983.3	37	c.2527	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809073	0.90707	.	.	ENSG00000107862	ENST00000369983	T	0.55930	0.49	5.47	4.54	0.55810	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.048630	0.85682	D	0.000000	T	0.74627	0.3741	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.986	T	0.79911	-0.1603	10	0.87932	D	0	-11.9262	16.1117	0.81270	0.0:0.8659:0.1341:0.0	.	843;843;843	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	843	ENSP00000359000:R843C	ENSP00000359000:R843C	R	+	1	0	GBF1	104116928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	1.258000	0.44101	0.563000	0.77884	CGT	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	protein_coding	OTTHUMT00000050051.1	C		-		104126938	1	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104126938	C	T	104126938	3	4	128	1	0	0	0	0	1	0	0	0	6273	884	31	1	2601	1	GBF1	10	104126938	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	835910	104126938	31407809	175	9688											
INA	9118	genome.wustl.edu	37	chr10	105048132	105048132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggaaactgctggaaggCgaggagacacgttttagcac	13	8	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:105048132C>T	ENST00000369849.4	+	3	1255	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	402	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGCTGGAAGGCGAGGAGACAC	0.463																																																	0								ENSG00000148798						94	93	94					10																	105048132		2203	4300	6503	INA	SO:0001819	synonymous_variant	0			-	HGNC	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1206C>T	10.37:g.105048132C>T		Somatic	0	115	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	93	23.77	B1AQK0|Q9BRC5	Silent	SNP							pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.G402	ENST00000369849.4	37	c.1206	CCDS7545.1	10																																																																																			-	pfam_IF		0.463	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INA	protein_coding	OTTHUMT00000050145.1	C	NM_032727	-		105048132	1	no_errors	ENST00000369849	ensembl	human	known	74_37	silent	SNP	0.211	T	T	105048132	C	T	105048132	2	4	128	1	0	0	0	0	0	0	0	1	7732	755	27	1		1	INA	10	105048132	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	921194	105048132	30486615	176	9689											
PDCD11	22984	genome.wustl.edu	37	chr10	105172954	105172954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttcctacagcctggaCgcccactcacccgactctct	5	20	3	0	rs566526072		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:105172954C>T	ENST00000369797.3	+	9	1154	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	354					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGCCTGGACGCCCACTCAC	0.562													C|||	1	0.000199681	0	0	5008	,	,		18082	0		0	False		,,,				2504	0.001																0								ENSG00000148843						109	95	100					10																	105172954		2203	4300	6503	PDCD11	SO:0001583	missense	0			-	HGNC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1060C>T	10.37:g.105172954C>T	ENSP00000358812:p.Arg354Cys	Somatic	0	72	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP							pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.R354C	ENST00000369797.3	37	c.1060	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186146	0.38609	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10860	2.83	5.36	5.36	0.76844	Nucleic acid-binding, OB-fold-like (1);	0.446559	0.26927	N	0.021792	T	0.16599	0.0399	L	0.50333	1.59	0.09310	N	0.999998	D	0.67145	0.996	P	0.51550	0.673	T	0.11470	-1.0586	10	0.54805	T	0.06	-12.0926	9.4671	0.38820	0.1494:0.6858:0.1648:0.0	.	354	Q14690	RRP5_HUMAN	C	354	ENSP00000358812:R354C	ENSP00000358812:R354C	R	+	1	0	PDCD11	105162944	0.258000	0.24033	0.985000	0.45067	0.142000	0.21351	1.135000	0.31454	2.522000	0.85027	0.467000	0.42956	CGC	-	superfamily_NA-bd_OB-fold		0.562	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	protein_coding	OTTHUMT00000050151.1	C		-		105172954	1	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	SNP	0.005	T	T	105172954	C	T	105172954	3	4	128	1	0	0	0	0	1	0	0	0	11619	536	19	1	1090	1	PDCD11	10	105172954	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	124822	105172954	30361793	177	9690											
PRLHR	2834	genome.wustl.edu	37	chr10	120353718	120353718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcgaccaacagtttgcGcagctcctcgcggaagctgt	11	14	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:120353718G>A	ENST00000369169.1	-	1	1038	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	PRLHR_ENST00000239032.2_Missense_Mutation_p.R347C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	347					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AACAGTTTGCGCAGCTCCTCG	0.612																																																	0								ENSG00000119973						52	50	51					10																	120353718		2203	4300	6503	PRLHR	SO:0001583	missense	0			-	HGNC	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.1039C>T	10.37:g.120353718G>A	ENSP00000358167:p.Arg347Cys	Somatic	0	39	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R347C	ENST00000369169.1	37	c.1039	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033463	0.35893	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.56275	0.47;0.47	4.53	2.52	0.30459	.	0.171828	0.39687	N	0.001289	T	0.40145	0.1105	L	0.55481	1.735	0.45995	D	0.998808	P	0.45212	0.853	B	0.29598	0.104	T	0.51260	-0.8728	10	0.87932	D	0	.	12.0806	0.53669	0.0:0.0:0.4401:0.5599	.	347	P49683	PRLHR_HUMAN	C	347	ENSP00000239032:R347C;ENSP00000358167:R347C	ENSP00000239032:R347C	R	-	1	0	PRLHR	120343708	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.991000	0.56973	1.079000	0.41038	0.561000	0.74099	CGC	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Prolrel_pep_rcpt		0.612	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	protein_coding	OTTHUMT00000050610.1	G	NM_004248	-		120353718	-1	no_errors	ENST00000239032	ensembl	human	known	74_37	missense	SNP	0.995	A	A	120353718	G	A	120353718	3	1	128	1	0	0	0	0	1	0	0	0	12535	1087	38	1	77	1	PRLHR	10	120353718	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	15180764	120353718	15181029	178	9691											
CTBP2	1488	genome.wustl.edu	37	chr10	126715774	126715774	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtccataccgcccgggAgatgcagccctgctctgtgt	11	16	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr10:126715774A>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_Silent_p.S185S|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACCGCCCGGGAGATGCAGCCC	0.652																																																	0								ENSG00000175029						32	35	34					10																	126715774		2203	4300	6503	CTBP2	SO:0001627	intron_variant	0			-	HGNC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11791T>A	10.37:g.126715774A>T		Somatic	0	71	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	58	15.71	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.S185	ENST00000337195.5	37	c.555	CCDS7643.1	10																																																																																			-	NULL		0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	protein_coding	OTTHUMT00000050900.3	A	NM_001083914	-		126715774	-1	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	SNP	0.636	T	T	126715774	A	T	126715774	1	4	128	0	1	0	0	0	0	0	0	0	4000	291	11	5		5	CTBP2	10	126715774	Intron	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	6362056	126715774	8818973	179	9692											
CDHR5	53841	genome.wustl.edu	37	chr11	619384	619384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcaccgtgttgtgggCctcaacctggggcaggaagg	17	9	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:619384C>T	ENST00000358353.3	-	13	1622	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	CDHR5_ENST00000349570.7_Missense_Mutation_p.A434T|CDHR5_ENST00000397542.2_Missense_Mutation_p.A434T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGTTGTGGGCCTCAACCTGG	0.612																																																	0								ENSG00000099834						66	65	65					11																	619384		2203	4299	6502	CDHR5	SO:0001583	missense	0			-	HGNC	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1300G>A	11.37:g.619384C>T	ENSP00000351118:p.Ala434Thr	Somatic	0	70	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	80	17.53	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP							superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.A434T	ENST00000358353.3	37	c.1300	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861160	0.71949	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.27104	1.69;1.69;1.69	3.73	3.73	0.42828	Cadherin (2);	.	.	.	.	T	0.37598	0.1009	L	0.34521	1.04	0.23298	N	0.997954	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71870	0.964;0.975;0.964	T	0.09314	-1.0680	9	0.66056	D	0.02	-37.4316	11.2174	0.48833	0.0:1.0:0.0:0.0	.	434;434;434	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	T	434	ENSP00000380676:A434T;ENSP00000351118:A434T;ENSP00000345726:A434T	ENSP00000345726:A434T	A	-	1	0	CDHR5	609384	0.970000	0.33590	0.388000	0.26195	0.007000	0.05969	2.167000	0.42415	2.087000	0.62958	0.462000	0.41574	GCC	-	superfamily_Cadherin-like,pfscan_Cadherin		0.612	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	protein_coding	OTTHUMT00000255023.2	C	NM_021924	-		619384	-1	no_errors	ENST00000358353	ensembl	human	known	74_37	missense	SNP	0.533	T	T	619384	C	T	619384	3	4	128	1	0	0	0	0	1	0	0	0	3124	739	26	2	1253	2	CDHR5	11	619384	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		619384	134387132	180	9693											
TSSC4	10078	genome.wustl.edu	37	chr11	2423909	2423909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcccccagcgtggagggcGaacacgggacggagtatgac	16	12	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:2423909G>A	ENST00000333256.6	+	3	489	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.E16K|TSSC4_ENST00000380996.5_Intron|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	16										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTGGAGGGCGAACACGGGAC	0.597																																																	0								ENSG00000184281						61	44	50					11																	2423909		2184	4290	6474	TSSC4	SO:0001583	missense	0			-	HGNC	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.46G>A	11.37:g.2423909G>A	ENSP00000331087:p.Glu16Lys	Somatic	0	53	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP							NULL	p.E16K	ENST00000333256.6	37	c.46	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969076	0.18659	.	.	ENSG00000184281	ENST00000333256;ENST00000437110;ENST00000435795;ENST00000485682;ENST00000496468;ENST00000451491	T;T;T;T;T;T	0.47528	2.41;1.4;0.84;0.84;1.41;2.41	2.08	-0.176	0.13311	.	1.283990	0.05621	N	0.579924	T	0.30603	0.0770	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.17018	-1.0383	9	.	.	.	.	5.5441	0.17053	0.3471:0.0:0.6529:0.0	.	16	Q9Y5U2	TSSC4_HUMAN	K	16	ENSP00000331087:E16K;ENSP00000396925:E16K;ENSP00000403475:E16K;ENSP00000431430:E16K;ENSP00000435013:E16K;ENSP00000411224:E16K	.	E	+	1	0	TSSC4	2380485	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.490000	0.22403	-0.047000	0.13423	-0.379000	0.06801	GAA	-	NULL		0.597	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	protein_coding	OTTHUMT00000027369.3	G	NM_005706	-		2423909	1	no_errors	ENST00000333256	ensembl	human	known	74_37	missense	SNP	0.000	A	A	2423909	G	A	2423909	3	1	128	1	0	0	0	0	1	0	0	0	16674	1059	37	1	48	1	TSSC4	11	2423909	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1804525	2423909	132582607	181	9694											
TRPM5	10078	genome.wustl.edu	37	chr11	2427900	2427900	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccgcacctgtgggcgGttttccgcagcacctccccc	11	20	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:2427900G>T	ENST00000333256.6	+	0	1686				TRPM5_ENST00000155858.6_Missense_Mutation_p.T1081N|TRPM5_ENST00000528453.1_Missense_Mutation_p.T1081N|TRPM5_ENST00000533060.1_Missense_Mutation_p.T1081N|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000452833.1_Missense_Mutation_p.T1083N			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTGGGCGGTTTTCCGCAG	0.612																																																	0								ENSG00000070985						122	114	117					11																	2427900		2202	4299	6501	TRPM5	SO:0001628	intergenic_variant	0			-	HGNC	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2427900G>T		Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.T1083N	ENST00000333256.6	37	c.3248	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202813	0.38905	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.64991	-0.0;-0.06;-0.08;-0.13;-0.06	3.96	3.02	0.34903	.	0.061993	0.64402	D	0.000005	T	0.73869	0.3642	M	0.72894	2.215	0.42452	D	0.992758	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.977;0.977;0.991	T	0.76299	-0.3010	10	0.87932	D	0	-20.2464	8.8922	0.35441	0.1136:0.0:0.8864:0.0	.	1081;1083;1081	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	N	1075;1081;1083;1081;1081	ENSP00000434383:T1075N;ENSP00000155858:T1081N;ENSP00000387965:T1083N;ENSP00000434121:T1081N;ENSP00000436809:T1081N	ENSP00000155858:T1081N	T	-	2	0	TRPM5	2384476	0.978000	0.34361	0.024000	0.17045	0.147000	0.21601	2.185000	0.42584	1.936000	0.56123	0.561000	0.74099	ACC	-	NULL		0.612	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027369.3	G	NM_005706	-		2427900	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	SNP	0.858	T	T	2427900	G	T	2427900	1	4	128	0	1	0	0	0	0	0	0	0	16596	1261	44	3		3	TRPM5	11	2427900	IGR	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3991	2427900	132578616	182	9695											
OVCH2	341277	genome.wustl.edu	37	chr11	7712590	7712590	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgagcatgatgctggaggGgctcagcacaggggtgggga	20	6	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:7712590G>T	ENST00000533663.1	-	0	267				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ATGCTGGAGGGGCTCAGCACA	0.537																																																	0								ENSG00000183378						57	60	59					11																	7712590		1996	4166	6162	OVCH2			0			-	HGNC	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7712590G>T		Somatic	0	31	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47		Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P517T	ENST00000533663.1	37	c.1549		11	.	.	.	.	.	.	.	.	.	.	G	4.648	0.120375	0.08881	.	.	ENSG00000183378	ENST00000454689	T	0.15603	2.41	5.53	-2.13	0.07144	CUB (5);	0.551240	0.15273	N	0.271112	T	0.03520	0.0101	N	0.01235	-0.94	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37244	-0.9714	10	0.02654	T	1	0.0164	5.955	0.19269	0.3823:0.0:0.0871:0.5306	.	517	Q7RTZ1	OVCH2_HUMAN	T	517	ENSP00000407158:P517T	ENSP00000407158:P517T	P	-	1	0	OVCH2	7669166	0.023000	0.18921	0.034000	0.17996	0.858000	0.48976	-0.314000	0.08092	-0.784000	0.04528	-0.252000	0.11476	CCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.537	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	polymorphic_pseudogene	OTTHUMT00000383928.1	G	NM_198185	-		7712590	-1	no_errors	ENST00000454689	ensembl	human	known	74_37	missense	SNP	0.035	T	T	7712590	G	T	7712590	1	4	128	0	1	0	0	0	0	0	0	0	11326	1232	43	3		3	OVCH2	11	7712590	RNA	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	5284690	7712590	127293926	183	9696											
USP47	55031	genome.wustl.edu	37	chr11	11969622	11969622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatcaagagtttgagagCgtccggctgaatgagacact	12	8	1	4			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:11969622C>T	ENST00000399455.2	+	22	3402	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.S1074S|USP47_ENST00000339865.5_Silent_p.S1006S	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1094					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AGTTTGAGAGCGTCCGGCTGA	0.383																																																	0								ENSG00000170242						145	132	136					11																	11969622		1839	4096	5935	USP47	SO:0001819	synonymous_variant	0			-	HGNC	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3282C>T	11.37:g.11969622C>T		Somatic	0	67	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	30.77	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S1094	ENST00000399455.2	37	c.3282		11																																																																																			-	NULL		0.383	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	protein_coding	OTTHUMT00000385853.2	C	NM_017944	-		11969622	1	no_errors	ENST00000399455	ensembl	human	known	74_37	silent	SNP	1.000	T	T	11969622	C	T	11969622	2	4	128	1	0	0	0	0	0	0	0	1	17085	767	27	1		1	USP47	11	11969622	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4257032	11969622	123036894	184	9697											
INSC	387755	genome.wustl.edu	37	chr11	15197525	15197525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaagctggcccaggacCgctgggcacgggtgcacagc	17	13	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:15197525C>T	ENST00000379554.3	+	3	482	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	INSC_ENST00000528567.1_Missense_Mutation_p.R99C|INSC_ENST00000379556.3_Missense_Mutation_p.R99C|INSC_ENST00000424273.1_Missense_Mutation_p.R99C|INSC_ENST00000530161.1_Missense_Mutation_p.R99C|INSC_ENST00000525218.1_Missense_Mutation_p.R99C	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	146					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCCCAGGACCGCTGGGCACG	0.632																																																	0								ENSG00000188487						23	26	25					11																	15197525		2063	4191	6254	INSC	SO:0001583	missense	0			-	HGNC	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.436C>T	11.37:g.15197525C>T	ENSP00000368872:p.Arg146Cys	Somatic	0	31	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo	p.R146C	ENST00000379554.3	37	c.436	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939212	0.73557	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.37752	1.19;1.22;1.18;1.19;1.22;1.18	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.54695	0.1874	L	0.56769	1.78	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;0.998;0.999;0.999	T	0.56878	-0.7906	10	0.87932	D	0	-23.4233	11.9963	0.53206	0.2954:0.7046:0.0:0.0	.	99;99;99;146	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	C	146;99;99;99;99;99;99	ENSP00000368872:R146C;ENSP00000368874:R99C;ENSP00000389161:R99C;ENSP00000435022:R99C;ENSP00000436194:R99C;ENSP00000436113:R99C	ENSP00000368872:R146C	R	+	1	0	INSC	15154101	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	3.716000	0.54904	2.420000	0.82092	0.462000	0.41574	CGC	-	NULL		0.632	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	protein_coding	OTTHUMT00000386590.1	C	NM_001031853	-		15197525	1	no_errors	ENST00000379554	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15197525	C	T	15197525	3	4	128	1	0	0	0	0	1	0	0	0	7766	652	23	1	446	1	INSC	11	15197525	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3227903	15197525	119808991	185	9698											
PIK3C2A	5286	genome.wustl.edu	37	chr11	17121490	17121490	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatcttgaatacttgtAagttctggtaaccctgaagg	8	7	3	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:17121490A>G	ENST00000265970.7	-	25	4034	c.4035T>C	c.(4033-4035)ctT>ctC	p.L1345L	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.L965L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1345	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GAATACTTGTAAGTTCTGGTA	0.353																																																	0								ENSG00000011405						97	99	98					11																	17121490		2200	4292	6492	PIK3C2A	SO:0001819	synonymous_variant	0			-	HGNC	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4035T>C	11.37:g.17121490A>G		Somatic	0	130	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	91	30.53	B0LPH2|B4E2G4|Q14CQ9	Silent	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L1345	ENST00000265970.7	37	c.4035	CCDS7824.1	11																																																																																			-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.353	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	protein_coding	OTTHUMT00000387553.1	A	NM_002645	-		17121490	-1	no_errors	ENST00000265970	ensembl	human	known	74_37	silent	SNP	0.997	G	G	17121490	A	G	17121490	2	3	128	1	0	0	0	0	0	0	0	1	11911	349	13	5		5	PIK3C2A	11	17121490	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	1923965	17121490	117885026	186	9699											
PTPN5	84867	genome.wustl.edu	37	chr11	18762166	18762166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaagaattccgcctgcAgcaggaaagggtccagggcc	12	12	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:18762166A>G	ENST00000358540.2	-	8	1329	c.899T>C	c.(898-900)cTg>cCg	p.L300P	PTPN5_ENST00000396168.1_Missense_Mutation_p.L276P|PTPN5_ENST00000396171.4_Missense_Mutation_p.L300P|PTPN5_ENST00000477854.1_Missense_Mutation_p.L104P|PTPN5_ENST00000396167.2_Missense_Mutation_p.L268P|PTPN5_ENST00000396170.1_Missense_Mutation_p.L268P|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000496201.2_5'Flank	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	300	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						TTCCGCCTGCAGCAGGAAAGG	0.612																																																	0								ENSG00000110786						67	71	70					11																	18762166		2199	4293	6492	PTPN5	SO:0001583	missense	0			-	HGNC	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.899T>C	11.37:g.18762166A>G	ENSP00000351342:p.Leu300Pro	Somatic	0	40	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP							pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L300P	ENST00000358540.2	37	c.899	CCDS7845.1	11	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358321	0.82243	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.13	5.13	0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000013	T	0.70281	0.3206	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80165	-0.1496	10	0.87932	D	0	.	14.9684	0.71213	1.0:0.0:0.0:0.0	.	300;268	P54829;B3KXG7	PTN5_HUMAN;.	P	104;300;268;300;268;276	ENSP00000435056:L104P;ENSP00000351342:L300P;ENSP00000379473:L268P;ENSP00000379474:L300P;ENSP00000379470:L268P;ENSP00000379471:L276P	ENSP00000351342:L300P	L	-	2	0	PTPN5	18718742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.946000	0.92992	1.940000	0.56252	0.528000	0.53228	CTG	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.612	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	protein_coding	OTTHUMT00000259196.2	A	NM_001039970	-		18762166	-1	no_errors	ENST00000358540	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18762166	A	G	18762166	3	3	128	1	0	0	0	0	1	0	0	0	12799	188	7	5	830	5	PTPN5	11	18762166	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	1640676	18762166	116244350	187	9700											
OR4D10	390197	genome.wustl.edu	37	chr11	59245410	59245410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccactccctttctgcGgacccaatgttcttgacact	6	16	2	1	rs201321935		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:59245410G>A	ENST00000530162.1	+	1	565	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G168R(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTTTCTGCGGACCCAATGT	0.498													G|||	1	0.000199681	0	0	5008	,	,		19684	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	prostate(1)						ENSG00000254466						112	111	111					11																	59245410		2201	4295	6496	OR4D10	SO:0001583	missense	0			-	HGNC	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.508G>A	11.37:g.59245410G>A	ENSP00000436424:p.Gly170Arg	Somatic	0	53	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	B2RNH6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G170R	ENST00000530162.1	37	c.508	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007513	0.35415	.	.	ENSG00000254466	ENST00000530162	T	0.38560	1.13	4.71	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61223	0.2330	M	0.76727	2.345	0.29486	N	0.856014	D	0.89917	1.0	D	0.87578	0.998	T	0.56757	-0.7926	9	0.87932	D	0	.	9.0361	0.36289	0.1839:0.0:0.8161:0.0	.	170	Q8NGI6	OR4DA_HUMAN	R	170	ENSP00000436424:G170R	ENSP00000436424:G170R	G	+	1	0	OR4D10	59001986	0.998000	0.40836	0.993000	0.49108	0.081000	0.17604	2.324000	0.43831	0.522000	0.28464	-0.136000	0.14681	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	protein_coding	OTTHUMT00000394235.1	G	NM_001004705	rs201321935		59245410	1	no_errors	ENST00000530162	ensembl	human	known	74_37	missense	SNP	0.923	A	A	59245410	G	A	59245410	3	1	128	1	0	0	0	0	1	0	0	0	11056	1117	39	1	510	1	OR4D10	11	59245410	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	40483244	59245410	75761106	188	9701											
CHRM1	1128	genome.wustl.edu	37	chr11	62677864	62677864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgagctgctgctgcTgccaccccctttgcctggcg	10	18	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:62677864T>C	ENST00000306960.3	-	2	1250	c.709A>G	c.(709-711)Agc>Ggc	p.S237G	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	237					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CTGCTGCTGCTGCCACCCCCT	0.677																																																	0								ENSG00000168539						23	27	26					11																	62677864		2201	4298	6499	CHRM1	SO:0001583	missense	0			-	HGNC	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.709A>G	11.37:g.62677864T>C	ENSP00000306490:p.Ser237Gly	Somatic	0	21	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	Q96RH1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.S237G	ENST00000306960.3	37	c.709	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	T	10.45	1.355024	0.24512	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.60672	0.21;0.17	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.348645	0.23815	N	0.044288	T	0.38904	0.1058	L	0.29908	0.895	0.30999	N	0.720536	P	0.40534	0.72	B	0.33690	0.168	T	0.40515	-0.9559	10	0.17369	T	0.5	-28.7861	11.4279	0.50022	0.0:0.0:0.0:1.0	.	237	P11229	ACM1_HUMAN	G	237	ENSP00000306490:S237G;ENSP00000441188:S237G	ENSP00000306490:S237G	S	-	1	0	CHRM1	62434440	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.936000	0.28938	1.813000	0.52934	0.460000	0.39030	AGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.677	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	protein_coding	OTTHUMT00000396178.1	T	NM_000738	-		62677864	-1	no_errors	ENST00000306960	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62677864	T	C	62677864	3	2	128	1	0	0	0	0	1	0	0	0	3378	1580	55	5	677	5	CHRM1	11	62677864	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	3432454	62677864	72328652	189	9702											
YIF1A	10897	genome.wustl.edu	37	chr11	66055130	66055130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaggagcatcacgactGtactgcacttcccagttctg	11	12	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:66055130G>A	ENST00000376901.4	-	4	550	c.366C>T	c.(364-366)taC>taT	p.Y122Y	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Silent_p.Y122Y|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	122					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CATCACGACTGTACTGCACTT	0.622																																																	0								ENSG00000174851						34	34	34					11																	66055130		2200	4295	6495	YIF1A	SO:0001819	synonymous_variant	0			-	HGNC	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.366C>T	11.37:g.66055130G>A		Somatic	0	64	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	A6NM00|Q96G83|Q9BVD0	Nonsense_Mutation	SNP							NULL	p.Q52*	ENST00000376901.4	37	c.154	CCDS8132.1	11																																																																																			-	NULL		0.622	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	protein_coding	OTTHUMT00000219903.3	G	NM_020470	-		66055130	-1	no_errors	ENST00000484814	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	66055130	G	A	66055130	2	1	128	1	0	0	0	0	0	0	0	1	17482	1372	48	2		2	YIF1A	11	66055130	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3377266	66055130	68951386	190	9703											
CCDC87	55231	genome.wustl.edu	37	chr11	66360012	66360012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtgtgcagtccctggCgaggctggcggccaaccggg	18	11	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:66360012C>T	ENST00000333861.3	-	1	542	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	159					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGTCCCTGGCGAGGCTGGCG	0.632																																																	0								ENSG00000182791						48	48	48					11																	66360012		2200	4295	6495	CCDC87	SO:0001583	missense	0			-	HGNC	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.475G>A	11.37:g.66360012C>T	ENSP00000328487:p.Ala159Thr	Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	Q8NE76	Missense_Mutation	SNP							pfam_MAP65_Ase1_PRC1	p.A159T	ENST00000333861.3	37	c.475	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283456	0.80803	.	.	ENSG00000182791	ENST00000333861	T	0.46451	0.87	5.2	5.2	0.72013	.	0.000000	0.49916	D	0.000124	T	0.64125	0.2570	M	0.75447	2.3	0.44719	D	0.997718	D	0.89917	1.0	D	0.91635	0.999	T	0.66709	-0.5855	10	0.72032	D	0.01	.	14.1172	0.65161	0.0:1.0:0.0:0.0	.	159	Q9NVE4	CCD87_HUMAN	T	159	ENSP00000328487:A159T	ENSP00000328487:A159T	A	-	1	0	CCDC87	66116588	0.998000	0.40836	1.000000	0.80357	0.469000	0.32828	0.625000	0.24477	2.706000	0.92434	0.655000	0.94253	GCC	-	NULL		0.632	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	protein_coding	OTTHUMT00000393825.1	C	NM_018219	-		66360012	-1	no_errors	ENST00000333861	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66360012	C	T	66360012	3	4	128	1	0	0	0	0	1	0	0	0	2864	768	27	1	2078	1	CCDC87	11	66360012	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	304882	66360012	68646504	191	9704											
KDM2A	22992	genome.wustl.edu	37	chr11	67013474	67013474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccagactgcctcactcaGtcacatgttccctctgtgga	8	15	4	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:67013474G>T	ENST00000529006.2	+	15	2298	c.1852G>T	c.(1852-1854)Gtc>Ttc	p.V618F	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.V179F|KDM2A_ENST00000398645.2_Missense_Mutation_p.V618F|KDM2A_ENST00000308783.5_Missense_Mutation_p.V76F	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	618					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCCTCACTCAGTCACATGTTC	0.428																																																	0								ENSG00000173120						112	109	110					11																	67013474		1949	4139	6088	KDM2A	SO:0001583	missense	0			-	HGNC	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1852G>T	11.37:g.67013474G>T	ENSP00000432786:p.Val618Phe	Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP							pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.V618F	ENST00000529006.2	37	c.1852	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.115255	0.94339	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.55	5.55	0.83447	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);	0.113950	0.64402	D	0.000010	D	0.91304	0.7258	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	P;P	0.61940	0.896;0.885	D	0.91517	0.5231	10	0.87932	D	0	-18.7975	19.6982	0.96039	0.0:0.0:1.0:0.0	.	76;618	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	F	618;618;179;179;76	ENSP00000381640:V618F;ENSP00000432786:V618F;ENSP00000435776:V179F;ENSP00000309302:V76F	ENSP00000309302:V76F	V	+	1	0	KDM2A	66770050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.597000	0.98273	2.894000	0.99253	0.655000	0.94253	GTC	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger		0.428	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	protein_coding	OTTHUMT00000393140.2	G	NM_012308	-		67013474	1	no_errors	ENST00000529006	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67013474	G	T	67013474	3	4	128	1	0	0	0	0	1	0	0	0	8126	1029	36	3	1906	3	KDM2A	11	67013474	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	653462	67013474	67993042	192	9705											
ADRBK1	156	genome.wustl.edu	37	chr11	67049161	67049161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcatacgcgttccacaCgccagacaagctcagcttca	7	15	3	1	rs543467610		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:67049161C>T	ENST00000308595.5	+	10	1078	c.788C>T	c.(787-789)aCg>aTg	p.T263M	ADRBK1_ENST00000526285.1_Missense_Mutation_p.T263M	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GCGTTCCACACGCCAGACAAG	0.662													C|||	1	0.000199681	0	0	5008	,	,		15530	0		0	False		,,,				2504	0.001																0								ENSG00000173020						95	83	87					11																	67049161		2200	4295	6495	ADRBK1	SO:0001583	missense	0			-	HGNC	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.788C>T	11.37:g.67049161C>T	ENSP00000312262:p.Thr263Met	Somatic	0	34	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.T263M	ENST00000308595.5	37	c.788	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652631	0.47362	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.67865	-0.29;-0.29	5.0	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.090634	0.47852	N	0.000215	D	0.83031	0.5166	M	0.87758	2.905	0.49582	D	0.9998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.86144	0.1583	10	0.87932	D	0	-17.13	13.5882	0.61944	0.0:0.9242:0.0:0.0758	.	263;263	P25098;E9PRV7	ARBK1_HUMAN;.	M	263	ENSP00000312262:T263M;ENSP00000434126:T263M	ENSP00000312262:T263M	T	+	2	0	ADRBK1	66805737	1.000000	0.71417	0.862000	0.33874	0.001000	0.01503	7.079000	0.76829	1.252000	0.44001	-0.218000	0.12543	ACG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	protein_coding	OTTHUMT00000393153.1	C	NM_001619	-		67049161	1	no_errors	ENST00000308595	ensembl	human	known	74_37	missense	SNP	0.997	T	T	67049161	C	T	67049161	3	4	128	1	0	0	0	0	1	0	0	0	343	536	19	1	826	1	ADRBK1	11	67049161	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	35687	67049161	67957355	193	9706											
FGF3	2248	genome.wustl.edu	37	chr11	69625374	69625374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccggcgggccccaggcGtactagacaccgtccggtac	14	16	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:69625374G>A	ENST00000334134.2	-	3	509	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	140					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|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)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GGCCCCAGGCGTACTAGACAC	0.667																																																	0								ENSG00000186895						27	34	32					11																	69625374		2198	4291	6489	FGF3	SO:0001583	missense	0			-	HGNC		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.419C>T	11.37:g.69625374G>A	ENSP00000334122:p.Thr140Met	Somatic	0	84	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	71	29.70	Q0VG69	Missense_Mutation	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.T140M	ENST00000334134.2	37	c.419	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367857	0.24771	.	.	ENSG00000186895	ENST00000334134	T	0.67171	-0.25	3.92	0.762	0.18454	.	1.696980	0.03694	U	0.247536	T	0.60932	0.2307	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.57911	0.829	T	0.56092	-0.8036	9	.	.	.	.	8.6882	0.34251	0.0:0.6197:0.296:0.0843	.	140	P11487	FGF3_HUMAN	M	140	ENSP00000334122:T140M	.	T	-	2	0	FGF3	69334555	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	0.851000	0.27751	0.129000	0.18514	-0.502000	0.04539	ACG	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam		0.667	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	protein_coding	OTTHUMT00000396835.1	G	NM_005247	-		69625374	-1	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	SNP	0.020	A	A	69625374	G	A	69625374	3	1	128	1	0	0	0	0	1	0	0	0	5855	1145	40	1	304	1	FGF3	11	69625374	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2576213	69625374	65381142	194	9707											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73071453	73071453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctacgcgctttccttccCgccaaccaagctggagctgt	10	15	0	0	rs140312706		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:73071453C>T	ENST00000263674.3	+	11	4645	c.4295C>T	c.(4294-4296)cCg>cTg	p.P1432L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1432					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTTTCCTTCCCGCCAACCAAG	0.632													C|||	1	0.000199681	0	0	5008	,	,		20154	0		0.001	False		,,,				2504	0																0								ENSG00000110237	C	LEU/PRO	3,4397	6.2+/-15.9	0,3,2197	115	126	122		4295	4.9	0.9	11	dbSNP_134	122	4,8582	3.7+/-12.6	0,4,4289	yes	missense	ARHGEF17	NM_014786.3	98	0,7,6486	TT,TC,CC		0.0466,0.0682,0.0539	benign	1432/2064	73071453	7,12979	2200	4293	6493	ARHGEF17	SO:0001583	missense	0			-	HGNC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4295C>T	11.37:g.73071453C>T	ENSP00000263674:p.Pro1432Leu	Somatic	0	38	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.P1432L	ENST00000263674.3	37	c.4295	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130664	0.56828	6.82E-4	4.66E-4	ENSG00000110237	ENST00000263674	T	0.32272	1.46	5.81	4.9	0.64082	.	0.128266	0.56097	N	0.000038	T	0.12050	0.0293	N	0.03608	-0.345	0.49483	D	0.999799	P	0.38535	0.635	B	0.22753	0.041	T	0.12116	-1.0560	10	0.38643	T	0.18	-15.8036	13.8958	0.63770	0.0:0.9275:0.0:0.0725	.	1432	Q96PE2	ARHGH_HUMAN	L	1432	ENSP00000263674:P1432L	ENSP00000263674:P1432L	P	+	2	0	ARHGEF17	72749101	1.000000	0.71417	0.910000	0.35882	0.986000	0.74619	5.467000	0.66737	1.466000	0.48025	0.655000	0.94253	CCG	-	NULL		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	protein_coding	OTTHUMT00000397365.1	C	NM_014786	rs140312706		73071453	1	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	SNP	0.995	T	T	73071453	C	T	73071453	3	4	128	1	0	0	0	0	1	0	0	0	900	652	23	1	4337	1	ARHGEF17	11	73071453	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3446079	73071453	61935063	195	9708											
OMP	4975	genome.wustl.edu	37	chr11	76814248	76814248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagattggaatgaggccgaCgccctggagtttggggagcg	17	7	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:76814248C>T	ENST00000529803.1	+	1	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	121					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ATGAGGCCGACGCCCTGGAGT	0.617																																																	0								ENSG00000254550						54	62	59					11																	76814248		2079	4177	6256	OMP	SO:0001819	synonymous_variant	0			-	HGNC	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.363C>T	11.37:g.76814248C>T		Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	Q562G2	Silent	SNP							pfam_Olfactory_marker,superfamily_Olfactory_marker	p.D121	ENST00000529803.1	37	c.363	CCDS53682.1	11																																																																																			-	pfam_Olfactory_marker,superfamily_Olfactory_marker		0.617	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMP	protein_coding	OTTHUMT00000382570.1	C	NM_006189	-		76814248	1	no_errors	ENST00000529803	ensembl	human	known	74_37	silent	SNP	0.848	T	T	76814248	C	T	76814248	2	4	128	1	0	0	0	0	0	0	0	1	10869	535	19	1		1	OMP	11	76814248	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3742795	76814248	58192268	196	9709											
MYO7A	4647	genome.wustl.edu	37	chr11	76901827	76901827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacggactcggcaaccaCggccaaggagctctgcaacg	13	14	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:76901827C>T	ENST00000409709.3	+	30	4108	c.3836C>T	c.(3835-3837)aCg>aTg	p.T1279M	MYO7A_ENST00000409619.2_Missense_Mutation_p.T1268M|MYO7A_ENST00000458637.2_Missense_Mutation_p.T1279M	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1279	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCGGCAACCACGGCCAAGGAG	0.587																																																	0								ENSG00000137474						55	67	63					11																	76901827		2124	4200	6324	MYO7A	SO:0001583	missense	0			-	HGNC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3836C>T	11.37:g.76901827C>T	ENSP00000386331:p.Thr1279Met	Somatic	0	32	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.T1279M	ENST00000409709.3	37	c.3836	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478920	0.84747	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	4.97	4.97	0.65823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.979;0.997	D	0.93543	0.6879	10	0.87932	D	0	.	18.21	0.89867	0.0:1.0:0.0:0.0	.	1268;1279;1279	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	M	1279;1279;1268;490;1278;1248;1155;460	ENSP00000386331:T1279M;ENSP00000392185:T1279M;ENSP00000386635:T1268M;ENSP00000417017:T460M	ENSP00000345075:T1155M	T	+	2	0	MYO7A	76579475	1.000000	0.71417	0.985000	0.45067	0.754000	0.42855	5.768000	0.68858	2.289000	0.77006	0.579000	0.79373	ACG	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	protein_coding	OTTHUMT00000328133.1	C	NM_000260	-		76901827	1	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76901827	C	T	76901827	3	4	128	1	0	0	0	0	1	0	0	0	10084	536	19	1	3984	1	MYO7A	11	76901827	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	87579	76901827	58104689	197	9710											
C11orf57	55216	genome.wustl.edu	37	chr11	111952739	111952739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttataaagagttatacccTgaagaatttgaaacagacag	9	5	0	5			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:111952739T>C	ENST00000280352.9	+	5	990	c.354T>C	c.(352-354)ccT>ccC	p.P118P	C11orf57_ENST00000393047.3_Silent_p.P118P|C11orf57_ENST00000530104.1_3'UTR|C11orf57_ENST00000420986.2_Silent_p.P118P|C11orf57_ENST00000532163.1_Silent_p.P89P	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	118										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGTTATACCCTGAAGAATTTG	0.308																																																	0								ENSG00000150776						86	84	85					11																	111952739		2201	4296	6497	C11orf57	SO:0001819	synonymous_variant	0			-	HGNC	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.354T>C	11.37:g.111952739T>C		Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Silent	SNP							NULL	p.P118	ENST00000280352.9	37	c.354	CCDS41715.1	11																																																																																			-	NULL		0.308	C11orf57-001	KNOWN	basic|CCDS	protein_coding	C11orf57	protein_coding	OTTHUMT00000316852.1	T	NM_018195	-		111952739	1	no_errors	ENST00000393047	ensembl	human	known	74_37	silent	SNP	1.000	C	C	111952739	T	C	111952739	2	2	128	1	0	0	0	0	0	0	0	1	1652	1567	55	5		5	C11orf57	11	111952739	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	35050912	111952739	23053777	198	9711											
PRDM10	56980	genome.wustl.edu	37	chr11	129794819	129794819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttacaagttgggcaggtGaagtagccatcattgatatg	11	6	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr11:129794819G>C	ENST00000360871.3	-	12	2067	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	PRDM10_ENST00000358825.5_Missense_Mutation_p.F616L|PRDM10_ENST00000528746.1_Missense_Mutation_p.F586L|PRDM10_ENST00000304538.6_Missense_Mutation_p.F526L|PRDM10_ENST00000423662.2_Missense_Mutation_p.F530L|PRDM10_ENST00000526082.1_Missense_Mutation_p.F530L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTGGGCAGGTGAAGTAGCCAT	0.423																																																	0								ENSG00000170325						105	108	107					11																	129794819		2201	4297	6498	PRDM10	SO:0001583	missense	0			-	HGNC	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1836C>G	11.37:g.129794819G>C	ENSP00000354118:p.Phe612Leu	Somatic	0	49	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F616L	ENST00000360871.3	37	c.1848	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982156	0.74474	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.71	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.050083	0.85682	D	0.000000	T	0.29158	0.0725	L	0.52206	1.635	0.48452	D	0.999653	P;P;P;P;D;P	0.69078	0.953;0.942;0.953;0.942;0.997;0.942	P;P;P;P;P;P	0.62813	0.672;0.543;0.672;0.543;0.907;0.543	T	0.01033	-1.1474	10	0.72032	D	0.01	-27.2871	8.7974	0.34887	0.2759:0.0:0.7241:0.0	.	526;612;616;530;526;530	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	L	616;526;612;530;586;530;329	ENSP00000351686:F616L;ENSP00000302669:F526L;ENSP00000354118:F612L;ENSP00000398431:F530L;ENSP00000431262:F586L;ENSP00000432237:F530L;ENSP00000435940:F329L	ENSP00000302669:F526L	F	-	3	2	PRDM10	129300029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.022000	0.41030	0.359000	0.24239	0.655000	0.94253	TTC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	protein_coding	OTTHUMT00000386076.1	G	NM_199437	-		129794819	-1	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	SNP	1.000	C	C	129794819	G	C	129794819	3	2	128	1	0	0	0	0	1	0	0	0	12456	1281	45	4	1674	4	PRDM10	11	129794819	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	17842080	129794819	5211697	199	9712											
KIAA0528	9847	genome.wustl.edu	37	chr12	22677416	22677416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaatacctgacattaaCgaaatgagtctctgtctggc	7	8	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:22677416C>T	ENST00000333957.4	-	6	846	c.591G>A	c.(589-591)tcG>tcA	p.S197S	C2CD5_ENST00000536386.1_Silent_p.S197S|C2CD5_ENST00000545552.1_Silent_p.S197S|C2CD5_ENST00000446597.1_Silent_p.S197S|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Silent_p.S197S|C2CD5_ENST00000396028.2_Silent_p.S197S	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	197					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CTGACATTAACGAAATGAGTC	0.353																																																	0								ENSG00000111731						103	94	97					12																	22677416		2203	4300	6503	C2CD5	SO:0001819	synonymous_variant	0			-	HGNC	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.591G>A	12.37:g.22677416C>T		Somatic	0	71	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	48	23.81	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S197	ENST00000333957.4	37	c.591	CCDS31758.1	12																																																																																			-	NULL		0.353	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	protein_coding	OTTHUMT00000402257.1	C	NM_014802	-		22677416	-1	no_errors	ENST00000333957	ensembl	human	known	74_37	silent	SNP	0.027	T	T	22677416	C	T	22677416	2	4	128	1	0	0	0	0	0	0	0	1	8184	523	19	1		1	KIAA0528	12	22677416	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		22677416	111174479	200	9713											
ITPR2	3709	genome.wustl.edu	37	chr12	26775294	26775294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgaggacccgtaaaaacGtcctgcctccttcatcgtca	8	13	2	1	rs369024488		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:26775294G>A	ENST00000381340.3	-	25	3583	c.3167C>T	c.(3166-3168)aCg>aTg	p.T1056M	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1056					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCGTAAAAACGTCCTGCCTCC	0.428																																																	0								ENSG00000123104	G	MET/THR	0,3830		0,0,1915	115	115	115		3167	5.1	1	12		115	1,8259		0,1,4129	no	missense	ITPR2	NM_002223.2	81	0,1,6044	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging	1056/2702	26775294	1,12089	1915	4130	6045	ITPR2	SO:0001583	missense	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3167C>T	12.37:g.26775294G>A	ENSP00000370744:p.Thr1056Met	Somatic	0	37	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	O94773	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1056M	ENST00000381340.3	37	c.3167	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272191	0.40194	0.0	1.21E-4	ENSG00000123104	ENST00000381340	D	0.91740	-2.9	5.11	5.11	0.69529	.	0.105139	0.64402	D	0.000003	D	0.88526	0.6460	L	0.46157	1.445	0.80722	D	1	B	0.30824	0.296	B	0.21151	0.033	D	0.85787	0.1365	10	0.25751	T	0.34	.	18.7307	0.91734	0.0:0.0:1.0:0.0	.	1056	Q14571	ITPR2_HUMAN	M	1056	ENSP00000370744:T1056M	ENSP00000370744:T1056M	T	-	2	0	ITPR2	26666561	1.000000	0.71417	0.958000	0.39756	0.977000	0.68977	7.722000	0.84778	2.659000	0.90383	0.650000	0.86243	ACG	-	superfamily_ARM-type_fold		0.428	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	G	NM_002223	-		26775294	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	SNP	0.999	A	A	26775294	G	A	26775294	3	1	128	1	0	0	0	0	1	0	0	0	7923	1145	40	1	5070	1	ITPR2	12	26775294	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4097878	26775294	107076601	201	9714											
SLC38A1	81539	genome.wustl.edu	37	chr12	46601385	46601385	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagacttgttcccccagCttttcatacaccatgcagcc	5	16	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:46601385C>G	ENST00000398637.5	-	7	1102	c.408G>C	c.(406-408)aaG>aaC	p.K136N	SLC38A1_ENST00000546893.1_Missense_Mutation_p.K136N|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K136N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.K136N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.K136N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	136					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GTTCCCCCAGCTTTTCATACA	0.378																																																	0								ENSG00000111371						107	105	106					12																	46601385		1831	4084	5915	SLC38A1	SO:0001583	missense	0			-	HGNC	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.408G>C	12.37:g.46601385C>G	ENSP00000381634:p.Lys136Asn	Somatic	0	85	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	57	35.23	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.K136N	ENST00000398637.5	37	c.408	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644817	0.67358	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02301	4.35;4.35;4.35;4.35;4.35	5.61	4.73	0.59995	.	0.076263	0.56097	D	0.000034	T	0.05823	0.0152	L	0.54323	1.7	0.46113	D	0.998876	P;P;P	0.44309	0.645;0.832;0.791	P;P;P	0.52710	0.707;0.674;0.707	T	0.53457	-0.8436	10	0.21014	T	0.42	-17.9357	11.5623	0.50785	0.0:0.857:0.0:0.143	.	136;136;136	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	N	136	ENSP00000449607:K136N;ENSP00000398142:K136N;ENSP00000381634:K136N;ENSP00000447853:K136N;ENSP00000449756:K136N	ENSP00000381634:K136N	K	-	3	2	SLC38A1	44887652	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.488000	0.45276	1.383000	0.46405	-0.251000	0.11542	AAG	-	pfam_AA_transpt_TM		0.378	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	protein_coding	OTTHUMT00000404218.2	C		-		46601385	-1	no_errors	ENST00000398637	ensembl	human	known	74_37	missense	SNP	1.000	G	G	46601385	C	G	46601385	3	3	128	1	0	0	0	0	1	0	0	0	14609	796	28	4	1099	4	SLC38A1	12	46601385	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	19826091	46601385	87250510	202	9715											
MLL2	8085	genome.wustl.edu	37	chr12	49416528	49416528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtacacgttgttcttccAttcggtgcgcagccgccggt	12	13	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:49416528A>G	ENST00000301067.7	-	51	16182	c.16183T>C	c.(16183-16185)Tgg>Cgg	p.W5395R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5395					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)										TTGTTCTTCCATTCGGTGCGC	0.547																																																	0								ENSG00000167548						104	117	113					12																	49416528		2068	4200	6268	KMT2D	SO:0001583	missense	0			-	HGNC	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.16183T>C	12.37:g.49416528A>G	ENSP00000301067:p.Trp5395Arg	Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	47	28.79	O14687	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.W5395R	ENST00000301067.7	37	c.16183	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	A	13.30	2.194752	0.38806	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85088	-1.94;-1.94	5.09	5.09	0.68999	.	0.000000	0.33534	N	0.004814	D	0.91603	0.7347	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92619	0.6106	10	0.87932	D	0	.	14.1527	0.65398	1.0:0.0:0.0:0.0	.	5395	O14686	MLL2_HUMAN	R	5395;76	ENSP00000301067:W5395R;ENSP00000435714:W76R	ENSP00000301067:W5395R	W	-	1	0	MLL2	47702795	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.237000	0.95368	2.059000	0.61396	0.482000	0.46254	TGG	-	NULL		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	A		-		49416528	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	SNP	1.000	G	G	49416528	A	G	49416528	3	3	128	1	0	0	0	0	1	0	0	0	9623	217	8	5	446	5	MLL2	12	49416528	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	2815143	49416528	84435367	203	9716											
TFCP2	7024	genome.wustl.edu	37	chr12	51501087	51501087	+	Frame_Shift_Del	DEL	T	T	-													atgaggtgttcgtttctccaTtttttccctatccgtttttt							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:51501087delT	ENST00000257915.5	-	7	1218	c.760delA	c.(760-762)atgfs	p.M254fs	TFCP2_ENST00000549867.1_Frame_Shift_Del_p.M254fs|TFCP2_ENST00000307660.4_Frame_Shift_Del_p.M203fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.M203fs	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	254	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CGTTTCTCCATTTTTTCCCTA	0.353																																																	0								ENSG00000135457						266	255	259					12																	51501087		2203	4300	6503	TFCP2	SO:0001589	frameshift_variant	0				HGNC	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.760delA	12.37:g.51501087delT	ENSP00000257915:p.Met254fs	Somatic	0	70	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	63	16.00	A8K5E9|Q12801|Q9UD75|Q9UD77	Frame_Shift_Del	DEL							pfam_CP2,superfamily_SAM/pointed	p.M254fs	ENST00000257915.5	37	c.760	CCDS8808.1	12																																																																																			-	pfam_CP2		0.353	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	protein_coding	OTTHUMT00000405119.1	T	NM_005653			51501087	-1	no_errors	ENST00000257915	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	51501087	T	-	51501087	7	5	128	1	0	1	0	1	0	0	0	0	15802	1493	52	0	784	0	TFCP2	12	51501087	Frame_Shift_Del	DEL	T	TCGA-DX-AB32-01A-11D-A417-09	2084559	51501087	82350808	204	9717											
OR6C4	341418	genome.wustl.edu	37	chr12	55945205	55945205	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctccggaatttctcCttcttagaaatttccttcac	3	13	4	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:55945205C>A	ENST00000394256.2	+	1	223	c.195C>A	c.(193-195)tcC>tcA	p.S65S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GGAATTTCTCCTTCTTAGAAA	0.428																																																	0								ENSG00000179626						127	132	130					12																	55945205		2202	4300	6502	OR6C4	SO:0001819	synonymous_variant	0			-	HGNC	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.195C>A	12.37:g.55945205C>A		Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A8MZG7|B2RNN2|Q6IFK1	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S65	ENST00000394256.2	37	c.195	CCDS31827.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C4	protein_coding	OTTHUMT00000406678.1	C		-		55945205	1	no_errors	ENST00000394256	ensembl	human	known	74_37	silent	SNP	0.118	A	A	55945205	C	A	55945205	2	1	128	1	0	0	0	0	0	0	0	1	11195	668	24	3		3	OR6C4	12	55945205	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4444118	55945205	77906690	205	9718											
ITGA7	3679	genome.wustl.edu	37	chr12	56091249	56091249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccagaccgagtggccGccagcacagttgggctgctc	12	16	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:56091249G>A	ENST00000555728.1	-	11	1651	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	ITGA7_ENST00000553804.1_Silent_p.G501G|ITGA7_ENST00000452168.2_Silent_p.G404G|ITGA7_ENST00000394229.2_Silent_p.G497G|ITGA7_ENST00000257879.6_Silent_p.G497G|ITGA7_ENST00000257880.7_Silent_p.G541G|ITGA7_ENST00000347027.6_Silent_p.G497G|ITGA7_ENST00000394230.2_Silent_p.G501G			Q13683	ITA7_HUMAN	integrin, alpha 7	541					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCGAGTGGCCGCCAGCACAGT	0.622																																																	0								ENSG00000135424						52	49	50					12																	56091249		2203	4300	6503	ITGA7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1623C>T	12.37:g.56091249G>A		Somatic	0	45	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	18.60	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G541	ENST00000555728.1	37	c.1623		12																																																																																			-	pfam_Integrin_alpha-2		0.622	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	protein_coding	OTTHUMT00000410138.1	G	NM_002206	-		56091249	-1	no_errors	ENST00000555728	ensembl	human	known	74_37	silent	SNP	0.001	A	A	56091249	G	A	56091249	2	1	128	1	0	0	0	0	0	0	0	1	7883	1074	38	1		1	ITGA7	12	56091249	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	146044	56091249	77760646	206	9719											
MMP19	4327	genome.wustl.edu	37	chr12	56231653	56231653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagtgaatccattgtgttCgaggcgagtagacagcagca	13	7	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:56231653C>T	ENST00000322569.4	-	7	1125	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000409200.3_Silent_p.S298S|MMP19_ENST00000548629.1_Missense_Mutation_p.R322Q|MMP19_ENST00000394182.1_Missense_Mutation_p.R59Q	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	345					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R345Q(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CCATTGTGTTCGAGGCGAGTA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000123342						105	107	107					12																	56231653		2203	4300	6503	MMP19	SO:0001583	missense	0			-	HGNC	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1034G>A	12.37:g.56231653C>T	ENSP00000313437:p.Arg345Gln	Somatic	0	77	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.R345Q	ENST00000322569.4	37	c.1034	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136693	0.77662	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.02395	4.31;4.31;4.31	5.94	5.94	0.96194	Hemopexin/matrixin (2);	0.357272	0.26460	N	0.024255	T	0.09468	0.0233	L	0.41079	1.255	0.53688	D	0.99997	D;D	0.89917	0.994;1.0	P;D	0.68039	0.854;0.955	T	0.43925	-0.9361	10	0.22706	T	0.39	.	17.8571	0.88767	0.0:1.0:0.0:0.0	.	345;59	Q99542;Q99542-3	MMP19_HUMAN;.	Q	59;345;322	ENSP00000377736:R59Q;ENSP00000313437:R345Q;ENSP00000446979:R322Q	ENSP00000313437:R345Q	R	-	2	0	MMP19	54517920	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.143000	0.64826	2.826000	0.97356	0.561000	0.74099	CGA	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans		0.507	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	protein_coding	OTTHUMT00000408023.1	C	NM_002429	-		56231653	-1	no_errors	ENST00000322569	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56231653	C	T	56231653	3	4	128	1	0	0	0	0	1	0	0	0	9659	884	31	1	504	1	MMP19	12	56231653	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	140404	56231653	77620242	207	9720											
MDM1	56890	genome.wustl.edu	37	chr12	68720410	68720410	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaagaattctatgcttttGaaaagaaatgcagtgaatat	8	3	1	5			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:68720410G>T	ENST00000303145.7	-	3	585				MDM1_ENST00000430606.2_Missense_Mutation_p.F175L|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000545724.1_Intron|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)						retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTATGCTTTTGAAAAGAAATG	0.313																																																	0								ENSG00000111554						81	85	84					12																	68720410		2203	4300	6503	MDM1	SO:0001627	intron_variant	0			-	HGNC	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.498+26C>A	12.37:g.68720410G>T		Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP							NULL	p.F175L	ENST00000303145.7	37	c.525	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	0.159	-1.082764	0.01888	.	.	ENSG00000111554	ENST00000430606	T	0.48201	0.82	4.83	-0.905	0.10527	.	.	.	.	.	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19877	-1.0292	8	.	.	.	.	3.5352	0.07792	0.0774:0.2197:0.3375:0.3654	.	175	Q8TC05-2	.	L	175	ENSP00000408694:F175L	.	F	-	3	2	MDM1	67006677	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.452000	0.02385	-0.059000	0.13154	-0.440000	0.05779	TTC	-	NULL		0.313	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	protein_coding	OTTHUMT00000402402.1	G	NM_020128	-		68720410	-1	no_errors	ENST00000430606	ensembl	human	known	74_37	missense	SNP	0.000	T	T	68720410	G	T	68720410	1	4	128	0	1	0	0	0	0	0	0	0	9414	1281	45	3		3	MDM1	12	68720410	Intron	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	12488757	68720410	65131485	208	9721											
CPSF6	11052	genome.wustl.edu	37	chr12	69652407	69652407	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtccacccttaggtcctccAggcccacctggtccaccagg	9	19	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:69652407A>C	ENST00000435070.2	+	6	842	c.732A>C	c.(730-732)ccA>ccC	p.P244P	CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000266679.8_Silent_p.P281P|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	244	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TAGGTCCTCCAGGCCCACCTG	0.502																																																	0								ENSG00000111605						82	75	78					12																	69652407		2203	4300	6503	CPSF6	SO:0001819	synonymous_variant	0			-	HGNC	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.732A>C	12.37:g.69652407A>C		Somatic	0	80	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P281	ENST00000435070.2	37	c.843	CCDS8988.1	12																																																																																			-	NULL		0.502	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	protein_coding	OTTHUMT00000403609.1	A	NM_007007	-		69652407	1	no_errors	ENST00000266679	ensembl	human	known	74_37	silent	SNP	0.997	C	C	69652407	A	C	69652407	2	2	128	1	0	0	0	0	0	0	0	1	3831	175	7	5		5	CPSF6	12	69652407	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	931997	69652407	64199488	209	9722											
PTPRB	5787	genome.wustl.edu	37	chr12	70956827	70956827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctgaggcggtccagCggaaggacaggtgcctggtg	16	13	1	1	rs376975449		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:70956827C>T	ENST00000261266.5	-	14	3340	c.3311G>A	c.(3310-3312)cGc>cAc	p.R1104H	PTPRB_ENST00000551525.1_Missense_Mutation_p.R1321H|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1322H|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1014H|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1014H|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1014H|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1234H	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1104	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGCGGTCCAGCGGAAGGACAG	0.552																																																	0								ENSG00000127329	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3870		0,0,1935	49	47	47		3965,3041,3041,3311	1.8	1	12		47	1,8301		0,1,4150	no	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	29,29,29,29	0,1,6085	TT,TC,CC		0.012,0.0,0.0082	benign,benign,benign,benign	1322/2216,1014/1908,1014/1908,1104/1998	70956827	1,12171	1935	4151	6086	PTPRB	SO:0001583	missense	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3311G>A	12.37:g.70956827C>T	ENSP00000261266:p.Arg1104His	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R1322H	ENST00000261266.5	37	c.3965	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882081	0.33255	0.0	1.2E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.89	1.76	0.24704	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.507136	0.24046	N	0.042058	T	0.28764	0.0713	N	0.03608	-0.345	0.22330	N	0.999194	B;B;B;B;B;B;B	0.14805	0.001;0.001;0.009;0.003;0.001;0.001;0.011	B;B;B;B;B;B;B	0.13407	0.003;0.005;0.009;0.005;0.003;0.005;0.008	T	0.22417	-1.0217	10	0.44086	T	0.13	.	13.1703	0.59593	0.0:0.4889:0.443:0.0682	.	1014;1014;1201;1321;1322;1104;1234	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	H	1322;1014;1234;1014;1014;1104;1321;1201	ENSP00000334928:R1322H;ENSP00000393028:R1014H;ENSP00000448058:R1234H;ENSP00000438927:R1014H;ENSP00000447302:R1014H;ENSP00000261266:R1104H;ENSP00000448349:R1321H;ENSP00000446982:R1201H	ENSP00000261266:R1104H	R	-	2	0	PTPRB	69243094	0.530000	0.26330	0.994000	0.49952	0.891000	0.51852	-0.002000	0.12924	0.353000	0.24079	0.591000	0.81541	CGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	C		-		70956827	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	missense	SNP	0.981	T	T	70956827	C	T	70956827	3	4	128	1	0	0	0	0	1	0	0	0	12804	768	27	1	2758	1	PTPRB	12	70956827	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1304420	70956827	62895068	210	9723											
MGAT4C	25834	genome.wustl.edu	37	chr12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctggaccatggcatcaCgccaggaagaattaaagtct	9	10	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					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)	p.R149H(1)		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						CATGGCATCACGCCAGGAAGA	0.398																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000182050						83	81	82					12																	86374058		2203	4300	6503	MGAT4C	SO:0001583	missense	0			-	HGNC		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.446G>A	12.37:g.86374058C>T	ENSP00000474896:p.Arg149His	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP							pfam_Glyco_transf_54,superfamily_LSM_dom	p.R178H	ENST00000604798.1	37	c.533	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111685	0.37242	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	2.62	0.31277	.	0.169518	0.52532	D	0.000061	D	0.82568	0.5065	L	0.38175	1.15	0.40016	D	0.975341	D;D	0.57571	0.98;0.965	P;P	0.52109	0.69;0.69	T	0.78196	-0.2298	10	0.14252	T	0.57	-17.5819	14.8367	0.70190	0.3749:0.6251:0.0:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	149;178;149;149;149;149;149	ENSP00000331664:R149H;ENSP00000376900:R178H;ENSP00000449022:R149H;ENSP00000446647:R149H;ENSP00000447253:R149H;ENSP00000449172:R149H	ENSP00000331664:R149H	R	-	2	0	MGAT4C	84898189	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.064000	0.71169	0.683000	0.31428	-0.169000	0.13324	CGT	-	pfam_Glyco_transf_54		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	protein_coding	OTTHUMT00000406212.2	C	NM_013244	-		86374058	-1	no_errors	ENST00000393205	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86374058	C	T	86374058	3	4	128	1	0	0	0	0	1	0	0	0	9549	536	19	1	994	1	MGAT4C	12	86374058	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	15417231	86374058	47477837	211	9724											
ANKRD13A	88455	genome.wustl.edu	37	chr12	110474119	110474119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagacaaacacctatgaCgcccagtatgagaggtgatt	10	10	0	4			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:110474119C>T	ENST00000261739.4	+	14	1729	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	521						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACACCTATGACGCCCAGTATG	0.498																																																	0								ENSG00000076513						204	181	189					12																	110474119		2203	4300	6503	ANKRD13A	SO:0001819	synonymous_variant	0			-	HGNC	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.1563C>T	12.37:g.110474119C>T		Somatic	0	34	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	O60736	Silent	SNP							pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.D521	ENST00000261739.4	37	c.1563	CCDS9140.1	12																																																																																			-	smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif		0.498	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13A	protein_coding	OTTHUMT00000403430.1	C	NM_033121	-		110474119	1	no_errors	ENST00000261739	ensembl	human	known	74_37	silent	SNP	0.066	T	T	110474119	C	T	110474119	2	4	128	1	0	0	0	0	0	0	0	1	641	535	19	1		1	ANKRD13A	12	110474119	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	24100061	110474119	23377776	212	9725											
C12orf51	283450	genome.wustl.edu	37	chr12	112601463	112601463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggccggcccgcacggcCgtcacgcactccacattctg	10	20	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:112601463C>T	ENST00000430131.2	-	73	12659	c.11514G>A	c.(11512-11514)acG>acA	p.T3838T	HECTD4_ENST00000377560.5_Silent_p.T4088T|HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Silent_p.T4114T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3838	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCCGCACGGCCGTCACGCACT	0.677																																																	0								ENSG00000173064						8	13	11					12																	112601463		1591	3072	4663	HECTD4	SO:0001819	synonymous_variant	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11514G>A	12.37:g.112601463C>T		Somatic	0	19	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP							pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.T4088	ENST00000430131.2	37	c.12264		12																																																																																			-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.677	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		C	NM_173813	-		112601463	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	SNP	0.014	T	T	112601463	C	T	112601463	2	4	128	1	0	0	0	0	0	0	0	1	1698	639	23	1		1	C12orf51	12	112601463	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2127344	112601463	21250432	213	9726											
DTX1	1840	genome.wustl.edu	37	chr12	113515459	113515459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagatgaaccgccagacgCgccggcgccgccgcctgcgc	14	19	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:113515459C>T	ENST00000257600.3	+	2	993	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	164	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCGCCAGAcgcgccggcgccg	0.677																																																	0								ENSG00000135144						29	22	24					12																	113515459		2199	4295	6494	DTX1	SO:0001583	missense	0			-	HGNC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.490C>T	12.37:g.113515459C>T	ENSP00000257600:p.Arg164Cys	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	O60630|Q9BS04	Missense_Mutation	SNP							pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.R164C	ENST00000257600.3	37	c.490	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869802	0.72065	.	.	ENSG00000135144	ENST00000257600	T	0.29655	1.56	3.32	2.39	0.29439	WWE domain (2);WWE domain, subgroup (1);	0.337915	0.27941	U	0.017224	T	0.23451	0.0567	N	0.24115	0.695	0.47547	D	0.999457	P	0.50710	0.938	P	0.45099	0.469	T	0.02288	-1.1182	10	0.66056	D	0.02	-12.3275	11.0069	0.47639	0.0:0.8077:0.1923:0.0	.	164	Q86Y01	DTX1_HUMAN	C	164	ENSP00000257600:R164C	ENSP00000257600:R164C	R	+	1	0	DTX1	111999842	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	5.370000	0.66144	0.326000	0.23384	0.205000	0.17691	CGC	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom		0.677	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	protein_coding	OTTHUMT00000405045.2	C		-		113515459	1	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113515459	C	T	113515459	3	4	128	1	0	0	0	0	1	0	0	0	4795	768	27	1	496	1	DTX1	12	113515459	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	913996	113515459	20336436	214	9727											
SRRM4	84530	genome.wustl.edu	37	chr12	119592120	119592120	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgcgtcggagacgtcgGtcctactcgcctatgagaaa	13	12	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:119592120G>T	ENST00000267260.4	+	12	1852	c.1464G>T	c.(1462-1464)cgG>cgT	p.R488R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	488	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGAGACGTCGGTCCTACTCGC	0.672																																																	0								ENSG00000139767						16	21	20					12																	119592120		1856	4091	5947	SRRM4	SO:0001819	synonymous_variant	0			-	HGNC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1464G>T	12.37:g.119592120G>T		Somatic	0	158	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	105	31.17	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP							NULL	p.R488	ENST00000267260.4	37	c.1464	CCDS44994.1	12																																																																																			-	NULL		0.672	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	protein_coding	OTTHUMT00000401640.2	G	NM_194286	-		119592120	1	no_errors	ENST00000267260	ensembl	human	known	74_37	silent	SNP	0.998	T	T	119592120	G	T	119592120	2	4	128	1	0	0	0	0	0	0	0	1	15178	1248	44	3		3	SRRM4	12	119592120	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	6076661	119592120	14259775	215	9728											
CABP1	9478	genome.wustl.edu	37	chr12	121098562	121098562	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtagattttgatgacttCgtggagctaatggggcctaa	12	6	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:121098562C>T	ENST00000316803.3	+	4	992	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CABP1_ENST00000351200.2_Silent_p.F83F|CABP1_ENST00000453000.1_Silent_p.F222F|CABP1_ENST00000288616.3_Silent_p.F143F	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	286	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGATGACTTCGTGGAGCTAA	0.512																																																	0								ENSG00000157782						232	224	227					12																	121098562		2203	4300	6503	CABP1	SO:0001819	synonymous_variant	0			-	HGNC	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.858C>T	12.37:g.121098562C>T		Somatic	0	71	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	58	20.55	O95663|Q8N6H5|Q9NZU8	Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.F286	ENST00000316803.3	37	c.858	CCDS31913.1	12																																																																																			-	NULL		0.512	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	protein_coding	OTTHUMT00000345822.1	C	NM_001033677	-		121098562	1	no_errors	ENST00000316803	ensembl	human	known	74_37	silent	SNP	1.000	T	T	121098562	C	T	121098562	2	4	128	1	0	0	0	0	0	0	0	1	2533	883	31	1		1	CABP1	12	121098562	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1506442	121098562	12753333	216	9729											
KNTC1	9735	genome.wustl.edu	37	chr12	123014670	123014670	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagtgggtacctgagtgtCggttcaagaaaagaacatgg	15	5	1	3	rs374816944|rs370631854		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:123014670C>T	ENST00000333479.7	+	2	237	c.60C>T	c.(58-60)gtC>gtT	p.V20V	KNTC1_ENST00000450485.2_Silent_p.V20V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	20					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACCTGAGTGTCGGTTCAAGAA	0.393																																																	0								ENSG00000184445						115	119	118					12																	123014670		1873	4110	5983	KNTC1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.60C>T	12.37:g.123014670C>T		Somatic	0	89	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	80	29.82	A7E2C4|B3KSG2	Silent	SNP							pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.V20	ENST00000333479.7	37	c.60	CCDS45002.1	12																																																																																			-	NULL		0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	protein_coding	OTTHUMT00000396110.2	C		-		123014670	1	no_errors	ENST00000333479	ensembl	human	known	74_37	silent	SNP	0.903	T	T	123014670	C	T	123014670	2	4	128	1	0	0	0	0	0	0	0	1	8430	871	31	1		1	KNTC1	12	123014670	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1916108	123014670	10837225	217	9730											
DHX37	57647	genome.wustl.edu	37	chr12	125461958	125461958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggtctcaccacacaCgatgacgatggggtgctcgg	14	13	1	1	rs376228891		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:125461958C>T	ENST00000308736.2	-	5	915	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	DHX37_ENST00000544745.1_Missense_Mutation_p.V60M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	273	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCACCACACACGATGACGATG	0.572																																																	0								ENSG00000150990	C	MET/VAL	0,4406		0,0,2203	110	97	101		817	1.3	1	12		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	273/1158	125461958	1,13005	2203	4300	6503	DHX37	SO:0001583	missense	0			-	HGNC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.817G>A	12.37:g.125461958C>T	ENSP00000311135:p.Val273Met	Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q9BUI7|Q9P211	Missense_Mutation	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V273M	ENST00000308736.2	37	c.817	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906795	0.33628	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03607	3.87;3.87	5.23	1.26	0.21427	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.369343	0.28889	N	0.013817	T	0.12689	0.0308	M	0.86343	2.81	0.43698	D	0.996151	D	0.63046	0.992	D	0.63793	0.918	T	0.02424	-1.1161	10	0.87932	D	0	-14.8683	1.0324	0.01541	0.1631:0.3901:0.1601:0.2867	.	273	Q8IY37	DHX37_HUMAN	M	273;60	ENSP00000311135:V273M;ENSP00000439009:V60M	ENSP00000311135:V273M	V	-	1	0	DHX37	124027911	1.000000	0.71417	0.999000	0.59377	0.036000	0.12997	0.728000	0.26013	0.582000	0.29556	-0.282000	0.10007	GTG	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.572	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	protein_coding		C	NM_032656	-		125461958	-1	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	SNP	0.976	T	T	125461958	C	T	125461958	3	4	128	1	0	0	0	0	1	0	0	0	4512	536	19	1	2748	1	DHX37	12	125461958	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2447288	125461958	8389937	218	9731											
ULK1	8408	genome.wustl.edu	37	chr12	132403074	132403074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgccagctcttctgccCgccacctggtgcctgggccc	11	19	3	0	rs374570609		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:132403074C>T	ENST00000321867.4	+	23	2710	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	ULK1_ENST00000540647.1_Missense_Mutation_p.R32C	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	787					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCTTCTGCCCGCCACCTGGT	0.697																																																	0								ENSG00000177169	C	CYS/ARG	1,4363		0,1,2181	15	18	17		2359	5.6	1	12		17	0,8544		0,0,4272	no	missense	ULK1	NM_003565.2	180	0,1,6453	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging	787/1051	132403074	1,12907	2182	4272	6454	ULK1	SO:0001583	missense	0			-	HGNC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2359C>T	12.37:g.132403074C>T	ENSP00000324560:p.Arg787Cys	Somatic	0	96	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	Q9UQ28	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R787C	ENST00000321867.4	37	c.2359	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296995	0.60086	2.29E-4	0.0	ENSG00000177169	ENST00000321867;ENST00000541761;ENST00000540647	T;T;T	0.50277	0.75;0.75;0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.64616	0.2614	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.66468	-0.5916	10	0.72032	D	0.01	-37.7429	13.5763	0.61877	0.2599:0.7401:0.0:0.0	.	787	O75385	ULK1_HUMAN	C	787;135;32	ENSP00000324560:R787C;ENSP00000444298:R135C;ENSP00000441794:R32C	ENSP00000324560:R787C	R	+	1	0	ULK1	130969027	0.921000	0.31238	0.981000	0.43875	0.222000	0.24845	1.717000	0.37991	2.631000	0.89168	0.561000	0.74099	CGC	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.697	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	protein_coding	OTTHUMT00000397769.3	C		-		132403074	1	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	SNP	0.965	T	T	132403074	C	T	132403074	3	4	128	1	0	0	0	0	1	0	0	0	16982	652	23	1	2449	1	ULK1	12	132403074	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	6941116	132403074	1448821	219	9732											
DDX51	317781	genome.wustl.edu	37	chr12	132625047	132625047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgaggagaactcagccaCgtccacacccccaaaagctt	9	16	1	1	rs370925243		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr12:132625047C>T	ENST00000397333.3	-	11	1632	c.1594G>A	c.(1594-1596)Gtg>Atg	p.V532M		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	532	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AACTCAGCCACGTCCACACCC	0.622																																																	0								ENSG00000185163	C	MET/VAL	0,4262		0,0,2131	62	73	69		1594	4.2	0.1	12		69	1,8467		0,1,4233	no	missense	DDX51	NM_175066.3	21	0,1,6364	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	532/667	132625047	1,12729	2131	4234	6365	DDX51	SO:0001583	missense	0			-	HGNC	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1594G>A	12.37:g.132625047C>T	ENSP00000380495:p.Val532Met	Somatic	0	36	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V532M	ENST00000397333.3	37	c.1594	CCDS41865.1	12	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417148	0.42918	0.0	1.18E-4	ENSG00000185163	ENST00000397333	T	0.78246	-1.16	5.09	4.2	0.49525	Helicase, C-terminal (3);	0.283341	0.33572	N	0.004774	D	0.87034	0.6077	M	0.80746	2.51	0.54753	D	0.999989	D	0.89917	1.0	D	0.76071	0.987	D	0.87928	0.2708	10	0.87932	D	0	-15.4738	11.3316	0.49479	0.0:0.9108:0.0:0.0892	.	532	Q8N8A6	DDX51_HUMAN	M	532	ENSP00000380495:V532M	ENSP00000380495:V532M	V	-	1	0	DDX51	131191000	1.000000	0.71417	0.125000	0.21846	0.001000	0.01503	6.890000	0.75633	1.146000	0.42352	-0.253000	0.11424	GTG	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.622	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	protein_coding	OTTHUMT00000398978.1	C	NM_175066	-		132625047	-1	no_errors	ENST00000397333	ensembl	human	known	74_37	missense	SNP	0.991	T	T	132625047	C	T	132625047	3	4	128	1	0	0	0	0	1	0	0	0	4371	536	19	1	426	1	DDX51	12	132625047	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	221973	132625047	1226848	220	9733											
LATS2	26524	genome.wustl.edu	37	chr13	21563156	21563156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaccagcaggtgcggccGcccgtagtgcgcgccctgca	15	16	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr13:21563156G>A	ENST00000382592.4	-	4	1168	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.R255W	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGTGCGGCCGCCCGTAGTGC	0.726																																																	0								ENSG00000150457						5	6	6					13																	21563156		2086	4113	6199	LATS2	SO:0001583	missense	0			-	HGNC	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.763C>T	13.37:g.21563156G>A	ENSP00000372035:p.Arg255Trp	Somatic	0	17	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	42.86		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R255W	ENST00000382592.4	37	c.763	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013433	0.35511	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.60797	0.16;0.16	3.9	1.8	0.24995	.	0.087086	0.46442	D	0.000289	T	0.58807	0.2148	L	0.29908	0.895	0.41734	D	0.989576	D	0.89917	1.0	D	0.79784	0.993	T	0.58983	-0.7539	10	0.87932	D	0	.	6.2678	0.20936	0.118:0.0:0.5915:0.2905	.	255	Q9NRM7	LATS2_HUMAN	W	255	ENSP00000372035:R255W;ENSP00000441817:R255W	ENSP00000372035:R255W	R	-	1	2	LATS2	20461156	0.996000	0.38824	0.017000	0.16124	0.049000	0.14656	1.640000	0.37186	0.608000	0.30000	0.485000	0.47835	CGG	-	NULL		0.726	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	protein_coding	OTTHUMT00000044102.1	G		-		21563156	-1	no_errors	ENST00000382592	ensembl	human	known	74_37	missense	SNP	0.999	A	A	21563156	G	A	21563156	3	1	128	1	0	0	0	0	1	0	0	0	8649	1086	38	1	2523	1	LATS2	13	21563156	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		21563156	93606722	221	9734											
UBL3	5412	genome.wustl.edu	37	chr13	30341763	30341763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggcttaccttgagagTttggctctggtaatgtctct	11	8	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr13:30341763T>C	ENST00000380680.4	-	4	1438	c.293A>G	c.(292-294)aAc>aGc	p.N98S		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	98						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACCTTGAGAGTTTGGCTCTGG	0.408																																																	0								ENSG00000122042						160	135	143					13																	30341763		2203	4300	6503	UBL3	SO:0001583	missense	0			-	HGNC	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.293A>G	13.37:g.30341763T>C	ENSP00000370055:p.Asn98Ser	Somatic	0	61	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP							pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup	p.N98S	ENST00000380680.4	37	c.293	CCDS9334.1	13	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096468	0.56075	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.53671	1.685	0.80722	D	1	B	0.20164	0.042	B	0.20955	0.032	T	0.53201	-0.8472	9	0.18710	T	0.47	-15.0698	15.5232	0.75881	0.0:0.0:0.0:1.0	.	98	O95164	UBL3_HUMAN	S	98	.	ENSP00000370055:N98S	N	-	2	0	UBL3	29239763	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.351000	0.79395	2.317000	0.78254	0.460000	0.39030	AAC	-	pirsf_M-anchored_Ub-fold_HCG-1		0.408	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL3	protein_coding	OTTHUMT00000044342.1	T	NM_007106	-		30341763	-1	no_errors	ENST00000380680	ensembl	human	known	74_37	missense	SNP	1.000	C	C	30341763	T	C	30341763	3	2	128	1	0	0	0	0	1	0	0	0	16893	1725	60	5	68	5	UBL3	13	30341763	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	8778607	30341763	84828115	222	9735											
RB1	5925	genome.wustl.edu	37	chr13	48947629	48947629	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgatttcctattttaacGtaagccatatatgaaacatt	4	7	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	38	Unknown(23)|Whole gene deletion(15)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CS890133|CS982341	RB1	S		ENSG00000139687						80	87	84					13																	48947629		2202	4287	6489	RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>A	13.37:g.48947629G>A		Somatic	0	27	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP							-	e12+1	ENST00000267163.4	37	c.1215+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681750	0.68042	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.	-	-		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		-	Intron	48947629	1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	48947629	G	A	48947629	5	1	128	1	0	0	0	0	0	0	1	0	13106	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	18605866	48947629	66222249	223	9736											
FAM124A	220108	genome.wustl.edu	37	chr13	51825713	51825713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgacaacgtcctggcGtggatccaccccgacctccc	9	19	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr13:51825713G>A	ENST00000322475.8	+	3	345	c.210G>A	c.(208-210)gcG>gcA	p.A70A	FAM124A_ENST00000280057.6_Silent_p.A106A	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	70										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ACGTCCTGGCGTGGATCCACC	0.697																																																	0								ENSG00000150510						24	21	22					13																	51825713		2203	4300	6503	FAM124A	SO:0001819	synonymous_variant	0			-	HGNC	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.210G>A	13.37:g.51825713G>A		Somatic	0	21	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP							NULL	p.A106	ENST00000322475.8	37	c.318	CCDS55900.1	13																																																																																			-	NULL		0.697	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	protein_coding	OTTHUMT00000045019.3	G	NM_145019	-		51825713	1	no_errors	ENST00000280057	ensembl	human	known	74_37	silent	SNP	0.029	A	A	51825713	G	A	51825713	2	1	128	1	0	0	0	0	0	0	0	1	5427	1132	40	1		1	FAM124A	13	51825713	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	2878084	51825713	63344165	224	9737											
SLITRK6	84189	genome.wustl.edu	37	chr13	86368334	86368334	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttaggtattctgtgatTcccagttgctgaagttccct	8	10	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr13:86368334T>C	ENST00000400286.2	-	2	2908	c.2310A>G	c.(2308-2310)ggA>ggG	p.G770G		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	770					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTCTGTGATTCCCAGTTGCT	0.403																																																	0								ENSG00000184564						198	183	188					13																	86368334		1844	4095	5939	SLITRK6	SO:0001819	synonymous_variant	0			-	HGNC	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2310A>G	13.37:g.86368334T>C		Somatic	0	44	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G770	ENST00000400286.2	37	c.2310	CCDS41903.1	13																																																																																			-	NULL		0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	protein_coding	OTTHUMT00000045404.2	T	NM_032229	-		86368334	-1	no_errors	ENST00000400286	ensembl	human	known	74_37	silent	SNP	1.000	C	C	86368334	T	C	86368334	2	2	128	1	0	0	0	0	0	0	0	1	14755	1770	62	5		5	SLITRK6	13	86368334	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	34542621	86368334	28801544	225	9738											
UGGT2	55757	genome.wustl.edu	37	chr13	96622469	96622469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccattgatcccaagattgCgaaggccattcatcattttt	6	12	2	2	rs140859099		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr13:96622469C>T	ENST00000376747.3	-	12	1302	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	411					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CCCAAGATTGCGAAGGCCATT	0.264																																																	0								ENSG00000102595	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	108	105		1232	-3.6	0.1	13	dbSNP_134	105	1,8587	1.2+/-3.3	0,1,4293	no	missense	UGGT2	NM_020121.3	29	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	benign	411/1517	96622469	2,12992	2203	4294	6497	UGGT2	SO:0001583	missense	0			-	HGNC	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1232G>A	13.37:g.96622469C>T	ENSP00000365938:p.Arg411His	Somatic	0	107	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	74	26.00	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP							pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.R411H	ENST00000376747.3	37	c.1232	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	1.763	-0.486368	0.04352	2.27E-4	1.16E-4	ENSG00000102595	ENST00000376747	T	0.26067	1.76	5.45	-3.57	0.04612	.	0.524779	0.21736	N	0.069881	T	0.05181	0.0138	N	0.00960	-1.095	0.26455	N	0.97554	B	0.06786	0.001	B	0.01281	0.0	T	0.37502	-0.9703	10	0.02654	T	1	0.2208	8.4217	0.32705	0.0:0.4956:0.1198:0.3846	.	411	Q9NYU1	UGGG2_HUMAN	H	411	ENSP00000365938:R411H	ENSP00000365938:R411H	R	-	2	0	UGGT2	95420470	0.008000	0.16893	0.133000	0.22050	0.971000	0.66376	-0.799000	0.04560	-0.570000	0.06022	0.455000	0.32223	CGC	-	NULL		0.264	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	protein_coding	OTTHUMT00000045507.1	C	NM_020121	rs140859099		96622469	-1	no_errors	ENST00000376747	ensembl	human	known	74_37	missense	SNP	0.148	T	T	96622469	C	T	96622469	3	4	128	1	0	0	0	0	1	0	0	0	16949	768	27	1	3430	1	UGGT2	13	96622469	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	10254135	96622469	18547409	226	9739											
SRP54	6729	genome.wustl.edu	37	chr14	35480757	35480757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattgcttctgaaggagtAgagaaatttaaaaatgaaaa	8	3	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:35480757A>G	ENST00000556994.1	+	9	925	c.528A>G	c.(526-528)gtA>gtG	p.V176V	SRP54_ENST00000555557.1_Silent_p.V112V|SRP54_ENST00000216774.6_Silent_p.V176V|SRP54_ENST00000546080.1_Silent_p.V127V			P61011	SRP54_HUMAN	signal recognition particle 54kDa	176	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CTGAAGGAGTAGAGAAATTTA	0.308																																																	0								ENSG00000100883						64	70	68					14																	35480757		2203	4291	6494	SRP54	SO:0001819	synonymous_variant	0			-	HGNC	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.528A>G	14.37:g.35480757A>G		Somatic	0	55	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2R759|B4DUW6|P13624	Silent	SNP							pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	p.V176	ENST00000556994.1	37	c.528	CCDS9652.1	14																																																																																			-	pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk		0.308	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	protein_coding	OTTHUMT00000276643.2	A	NM_003136	-		35480757	1	no_errors	ENST00000216774	ensembl	human	known	74_37	silent	SNP	1.000	G	G	35480757	A	G	35480757	2	3	128	1	0	0	0	0	0	0	0	1	15162	407	15	5		5	SRP54	14	35480757	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09		35480757	71868783	227	9740											
MNAT1	4331	genome.wustl.edu	37	chr14	61285544	61285544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctgtaaaaccagtgacGttttccacaggcatcaaaat	6	10	1	1	rs143441995		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:61285544G>A	ENST00000261245.4	+	6	767	c.666G>A	c.(664-666)acG>acA	p.T222T	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	222					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		AACCAGTGACGTTTTCCACAG	0.348								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									0								ENSG00000020426	G	,	0,4406		0,0,2203	79	80	80		,666	-11.7	0.4	14	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	MNAT1	NM_001177963.1,NM_002431.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,222/310	61285544	1,13005	2203	4300	6503	MNAT1	SO:0001819	synonymous_variant	0			-	HGNC	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.666G>A	14.37:g.61285544G>A		Somatic	0	80	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	G3V1U8|Q15817|Q6ICQ7	Silent	SNP							pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3	p.T222	ENST00000261245.4	37	c.666	CCDS9750.1	14																																																																																			-	pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3		0.348	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	protein_coding	OTTHUMT00000276956.1	G	NM_002431	rs143441995		61285544	1	no_errors	ENST00000261245	ensembl	human	known	74_37	silent	SNP	0.127	A	A	61285544	G	A	61285544	2	1	128	1	0	0	0	0	0	0	0	1	9676	1132	40	1		1	MNAT1	14	61285544	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	25804787	61285544	46063996	228	9741											
SYNE2	23224	genome.wustl.edu	37	chr14	64430701	64430701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggattcagagaatgataccTactttaaaaagtataatgta	7	4	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:64430701T>C	ENST00000344113.4	+	10	1185	c.973T>C	c.(973-975)Tac>Cac	p.Y325H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.Y325H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Y325H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	325					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATACCTACTTTAAAAA	0.328																																																	0								ENSG00000054654						69	66	67					14																	64430701		1805	4064	5869	SYNE2	SO:0001583	missense	0			-	HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.973T>C	14.37:g.64430701T>C	ENSP00000341781:p.Tyr325His	Somatic	0	134	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	80	28.57	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP							pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Y325H	ENST00000344113.4	37	c.973	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	7.065	0.567190	0.13560	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59772	0.59;0.59;0.24	5.04	3.87	0.44632	.	0.140063	0.32473	N	0.006055	T	0.65893	0.2735	L	0.59436	1.845	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.58454	0.694;0.839	T	0.66956	-0.5792	10	0.87932	D	0	.	10.0364	0.42131	0.0:0.0:0.1696:0.8304	.	325;325	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	325	ENSP00000350719:Y325H;ENSP00000341781:Y325H;ENSP00000452570:Y325H	ENSP00000261678:Y325H	Y	+	1	0	SYNE2	63500454	0.022000	0.18835	0.825000	0.32803	0.012000	0.07955	0.828000	0.27435	0.755000	0.32990	-0.477000	0.04895	TAC	-	NULL		0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	T	NM_182914	-		64430701	1	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	SNP	0.992	C	C	64430701	T	C	64430701	3	2	128	1	0	0	0	0	1	0	0	0	15453	1522	53	5	1007	5	SYNE2	14	64430701	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	3145157	64430701	42918839	229	9742											
ZFYVE1	53349	genome.wustl.edu	37	chr14	73491176	73491176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcctggcacatcagccccGgattcaggcccttctctgct	8	16	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:73491176G>T	ENST00000556143.1	-	2	761	c.41C>A	c.(40-42)cCg>cAg	p.P14Q	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.P14Q|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.P14Q	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	14					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CATCAGCCCCGGATTCAGGCC	0.557																																																	0								ENSG00000165861						58	50	53					14																	73491176		2203	4300	6503	ZFYVE1	SO:0001583	missense	0			-	HGNC	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.41C>A	14.37:g.73491176G>T	ENSP00000450742:p.Pro14Gln	Somatic	0	32	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P14Q	ENST00000556143.1	37	c.41	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040029	0.55003	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	5.66	0.87406	.	0.115379	0.56097	D	0.000029	T	0.45756	0.1358	N	0.08118	0	0.80722	D	1	B;B	0.31730	0.337;0.104	B;B	0.27380	0.079;0.036	T	0.50171	-0.8859	10	0.59425	D	0.04	-17.8911	19.8043	0.96521	0.0:0.0:1.0:0.0	.	14;14	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Q	14	ENSP00000452442:P14Q;ENSP00000326921:P14Q;ENSP00000450742:P14Q	ENSP00000326921:P14Q	P	-	2	0	ZFYVE1	72560929	1.000000	0.71417	0.948000	0.38648	0.808000	0.45660	7.153000	0.77428	2.695000	0.91970	0.585000	0.79938	CCG	-	NULL		0.557	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	protein_coding	OTTHUMT00000413172.1	G	NM_021260	-		73491176	-1	no_errors	ENST00000553891	ensembl	human	known	74_37	missense	SNP	0.996	T	T	73491176	G	T	73491176	3	4	128	1	0	0	0	0	1	0	0	0	17670	1116	39	3	2336	3	ZFYVE1	14	73491176	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	9060475	73491176	33858364	230	9743											
TTLL5	23093	genome.wustl.edu	37	chr14	76184259	76184259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcggaaccagttcatgCatctgacaaactacagtgtc	7	11	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:76184259C>T	ENST00000298832.9	+	10	1001	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Missense_Mutation_p.H266Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	266	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)			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)		CCAGTTCATGCATCTGACAAA	0.458																																																	0								ENSG00000119685						145	119	128					14																	76184259		2203	4300	6503	TTLL5	SO:0001583	missense	0			-	HGNC	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.796C>T	14.37:g.76184259C>T	ENSP00000298832:p.His266Tyr	Somatic	0	27	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.H266Y	ENST00000298832.9	37	c.796	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.127073	0.94429	.	.	ENSG00000119685	ENST00000557636;ENST00000298832	T;T	0.20598	2.06;2.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75408	-0.3328	10	0.87932	D	0	.	19.2743	0.94026	0.0:1.0:0.0:0.0	.	266;266	G3V2J9;Q6EMB2	.;TTLL5_HUMAN	Y	266	ENSP00000450713:H266Y;ENSP00000298832:H266Y	ENSP00000298832:H266Y	H	+	1	0	TTLL5	75254012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.502000	0.81614	2.713000	0.92767	0.655000	0.94253	CAT	-	pfam_TTL/TTLL_fam		0.458	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	protein_coding	OTTHUMT00000414453.1	C	NM_015072	-		76184259	1	no_errors	ENST00000298832	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76184259	C	T	76184259	3	4	128	1	0	0	0	0	1	0	0	0	16737	710	25	2	830	2	TTLL5	14	76184259	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2693083	76184259	31165281	231	9744											
C14orf4	64207	genome.wustl.edu	37	chr14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-													ggctgcgctgttccaccgcaGcggcggcggcggcggcggcg					rs371633333		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	GCG	GCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749																																																	0								ENSG00000119669																																			IRF2BPL	SO:0001651	inframe_deletion	0				HGNC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del	Somatic	0	13	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL							pfam_Interferon_reg_fac2-bd1_2_Znf	p.A164in_frame_del	ENST00000238647.3	37	c.488_486	CCDS9854.1	14																																																																																			-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	protein_coding	OTTHUMT00000414298.1	GCG	NM_024496			77493650	-1	no_errors	ENST00000238647	ensembl	human	known	74_37	in_frame_del	DEL	0.567:0.583:0.592	-	-	77493650	GCG	-	77493648	7	5	128	1	0	1	0	1	0	0	0	0	1775	971	34	0	1906	0	C14orf4	14	77493648	In_Frame_Del	DEL	GCG	TCGA-DX-AB32-01A-11D-A417-09	1309389	77493648	29855892	232	9745											
POMT2	29954	genome.wustl.edu	37	chr14	77746207	77746208	+	Frame_Shift_Del	DEL	AC	AC	-													gtgcccctctctgcatggctAcagcaatgatgctccctgag							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:77746207_77746208delAC	ENST00000261534.4	-	18	2051_2052	c.1849_1850delGT	c.(1849-1851)gtafs	p.V617fs		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	617						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CTGCATGGCTACAGCAATGATG	0.619																																																	0								ENSG00000009830																																			POMT2	SO:0001589	frameshift_variant	0				HGNC	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1849_1850delGT	14.37:g.77746207_77746208delAC	ENSP00000261534:p.Val617fs	Somatic	0	38	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q9NSG6|Q9P1W0|Q9P1W2	Frame_Shift_Del	DEL							pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.V617fs	ENST00000261534.4	37	c.1850_1849	CCDS9857.1	14																																																																																			-	NULL		0.619	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMT2	protein_coding	OTTHUMT00000414155.1	AC	NM_013382			77746208	-1	no_errors	ENST00000261534	ensembl	human	known	74_37	frame_shift_del	DEL	0.083:0.002	-	-	77746208	AC	-	77746207	7	5	128	1	0	1	0	1	0	0	0	0	12248	391	14	0	418	0	POMT2	14	77746207	Frame_Shift_Del	DEL	AC	TCGA-DX-AB32-01A-11D-A417-09	252559	77746207	29603333	233	9746											
STON2	85439	genome.wustl.edu	37	chr14	81743643	81743643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccgcattagctcaaacCggcacgcatccaaagggttg	10	12	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:81743643C>T	ENST00000267540.2	-	4	2212	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.R671Q	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	671	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TAGCTCAAACCGGCACGCATC	0.527																																																	0								ENSG00000140022						104	93	97					14																	81743643		2203	4300	6503	STON2	SO:0001583	missense	0			-	HGNC	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2012G>A	14.37:g.81743643C>T	ENSP00000267540:p.Arg671Gln	Somatic	0	39	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP							pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.R671Q	ENST00000267540.2	37	c.2012	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857504	0.71834	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.21031	2.03;2.03	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.070655	0.56097	D	0.000032	T	0.44222	0.1283	M	0.69358	2.11	0.41004	D	0.984953	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.965	T	0.26950	-1.0088	10	0.59425	D	0.04	-21.3364	13.774	0.63041	0.0:0.9304:0.0:0.0696	.	671;671	Q8WXE9;G3V2T7	STON2_HUMAN;.	Q	671;683;671	ENSP00000450857:R671Q;ENSP00000267540:R671Q	ENSP00000267540:R671Q	R	-	2	0	STON2	80813396	1.000000	0.71417	0.985000	0.45067	0.941000	0.58515	4.982000	0.63825	2.879000	0.98667	0.650000	0.86243	CGG	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C		0.527	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	protein_coding	OTTHUMT00000413317.1	C	NM_033104	-		81743643	-1	no_errors	ENST00000267540	ensembl	human	known	74_37	missense	SNP	0.998	T	T	81743643	C	T	81743643	3	4	128	1	0	0	0	0	1	0	0	0	15325	652	23	1	711	1	STON2	14	81743643	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3997436	81743643	25605897	234	9747											
BDKRB1	623	genome.wustl.edu	37	chr14	96730713	96730713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcctccctgcgaacgCgggaggaggtcagcaggaca	15	13	1	0	rs371690606		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:96730713C>T	ENST00000216629.6	+	3	1300	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	BDKRB1_ENST00000553356.1_Missense_Mutation_p.R232W|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	232					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCTGCGAACGCGGGAGGAGGT	0.587																																																	0								ENSG00000100739	C	TRP/ARG	0,4406		0,0,2203	70	65	67		694	4	0	14		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	BDKRB1	NM_000710.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	232/354	96730713	1,13005	2203	4300	6503	BDKRB1	SO:0001583	missense	0			-	HGNC	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.694C>T	14.37:g.96730713C>T	ENSP00000216629:p.Arg232Trp	Somatic	0	38	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt	p.R232W	ENST00000216629.6	37	c.694	CCDS9943.1	14	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453944	0.26161	0.0	1.16E-4	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.39787	1.06;1.06	4.92	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.396531	0.24291	U	0.039816	T	0.60483	0.2272	M	0.77616	2.38	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.76071	0.888;0.987	T	0.52697	-0.8541	10	0.62326	D	0.03	-3.4876	7.3442	0.26654	0.1656:0.7462:0.0:0.0882	.	232;232	G3V4Y2;P46663	.;BKRB1_HUMAN	W	232	ENSP00000216629:R232W;ENSP00000452064:R232W	ENSP00000216629:R232W	R	+	1	2	BDKRB1	95800466	0.000000	0.05858	0.014000	0.15608	0.099000	0.18886	0.389000	0.20751	1.072000	0.40860	0.456000	0.33151	CGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt		0.587	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB1	protein_coding	OTTHUMT00000413300.1	C		-		96730713	1	no_errors	ENST00000216629	ensembl	human	known	74_37	missense	SNP	0.000	T	T	96730713	C	T	96730713	3	4	128	1	0	0	0	0	1	0	0	0	1392	759	27	1	696	1	BDKRB1	14	96730713	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	14987070	96730713	10618827	235	9748											
AHNAK2	113146	genome.wustl.edu	37	chr14	105420418	105420418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgatcccgatttccaggCtctgcagtccctcgccttca	9	16	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr14:105420418C>T	ENST00000333244.5	-	7	1489	c.1370G>A	c.(1369-1371)aGc>aAc	p.S457N	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	457						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATTTCCAGGCTCTGCAGTCC	0.597																																																	0								ENSG00000185567						49	54	52					14																	105420418		2027	4176	6203	AHNAK2	SO:0001583	missense	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1370G>A	14.37:g.105420418C>T	ENSP00000353114:p.Ser457Asn	Somatic	0	40	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S457N	ENST00000333244.5	37	c.1370	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	17.51	3.406805	0.62399	.	.	ENSG00000185567	ENST00000333244	T	0.03745	3.82	5.1	2.24	0.28232	.	.	.	.	.	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.30105	0.111	T	0.50381	-0.8835	9	0.16896	T	0.51	.	8.0663	0.30663	0.0:0.6123:0.3047:0.083	.	457	Q8IVF2	AHNK2_HUMAN	N	457	ENSP00000353114:S457N	ENSP00000353114:S457N	S	-	2	0	AHNAK2	104491463	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	-0.266000	0.08631	0.250000	0.21479	0.555000	0.69702	AGC	-	NULL		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	C	NM_138420	-		105420418	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	SNP	0.011	T	T	105420418	C	T	105420418	3	4	128	1	0	0	0	0	1	0	0	0	415	797	28	2	16021	2	AHNAK2	14	105420418	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	8689705	105420418	1929122	236	9749											
OTUD7A	161725	genome.wustl.edu	37	chr15	31819495	31819495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaacaccaggtcccggtcGtgaaacccccacattcctgg	9	16	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:31819495G>A	ENST00000307050.4	-	5	761	c.669C>T	c.(667-669)caC>caT	p.H223H	OTUD7A_ENST00000382902.1_Silent_p.H223H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	223	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGTCCCGGTCGTGAAACCCCC	0.577																																																	0								ENSG00000169918						112	108	109					15																	31819495		2202	4300	6502	OTUD7A	SO:0001819	synonymous_variant	0			-	HGNC	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.669C>T	15.37:g.31819495G>A		Somatic	0	45	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	Q8IWK5	Silent	SNP							pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.H223	ENST00000307050.4	37	c.669	CCDS10026.1	15																																																																																			-	pfam_OTU,pfscan_OTU		0.577	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	protein_coding	OTTHUMT00000251393.2	G	NM_130901	-		31819495	-1	no_errors	ENST00000382902	ensembl	human	known	74_37	silent	SNP	0.522	A	A	31819495	G	A	31819495	2	1	128	1	0	0	0	0	0	0	0	1	11320	1136	40	1		1	OTUD7A	15	31819495	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		31819495	70711897	237	9750											
VPS18	57617	genome.wustl.edu	37	chr15	41191385	41191385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcacggaggtcctctaCgtgaaccgaaatggacagaa	12	10	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:41191385C>T	ENST00000220509.5	+	4	708	c.369C>T	c.(367-369)taC>taT	p.Y123Y	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	123					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGGTCCTCTACGTGAACCGAA	0.622																																																	0								ENSG00000104142						80	79	79					15																	41191385		2203	4300	6503	VPS18	SO:0001819	synonymous_variant	0			-	HGNC	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.369C>T	15.37:g.41191385C>T		Somatic	0	38	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q8TCG0|Q96DI3|Q9H268	Silent	SNP							pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.Y123	ENST00000220509.5	37	c.369	CCDS10069.1	15																																																																																			-	NULL		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	protein_coding	OTTHUMT00000252443.2	C		-		41191385	1	no_errors	ENST00000220509	ensembl	human	known	74_37	silent	SNP	0.899	T	T	41191385	C	T	41191385	2	4	128	1	0	0	0	0	0	0	0	1	17201	547	19	1		1	VPS18	15	41191385	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	9371890	41191385	61340007	238	9751											
NDUFAF1	51103	genome.wustl.edu	37	chr15	41680706	41680706	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcgattagagaagaaaaaTttggaaaaaggaatctgaaa	9	4	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:41680706T>A	ENST00000260361.4	-	4	1155	c.774A>T	c.(772-774)aaA>aaT	p.K258N		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	258					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AGAAGAAAAATTTGGAAAAAG	0.343																																																	0								ENSG00000137806						51	55	53					15																	41680706		2203	4300	6503	NDUFAF1	SO:0001583	missense	0			-	HGNC	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.774A>T	15.37:g.41680706T>A	ENSP00000260361:p.Lys258Asn	Somatic	0	81	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	69	8.00	Q9BVZ5	Missense_Mutation	SNP							pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	p.K258N	ENST00000260361.4	37	c.774	CCDS10075.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970734	0.74246	.	.	ENSG00000137806	ENST00000260361	T	0.76968	-1.06	5.43	4.38	0.52667	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84215	0.0458	10	0.54805	T	0.06	.	6.6636	0.23029	0.0:0.2588:0.0:0.7412	.	258	Q9Y375	CIA30_HUMAN	N	258	ENSP00000260361:K258N	ENSP00000260361:K258N	K	-	3	2	NDUFAF1	39467998	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.723000	0.54955	0.922000	0.37019	0.455000	0.32223	AAA	-	pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like		0.343	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	protein_coding	OTTHUMT00000252692.2	T	NM_016013	-		41680706	-1	no_errors	ENST00000260361	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41680706	T	A	41680706	3	1	128	1	0	0	0	0	1	0	0	0	10276	1490	52	5	217	5	NDUFAF1	15	41680706	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	489321	41680706	60850686	239	9752											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42444923	42444923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcccatctccccggagCgtgccctggattctcagaca	10	16	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:42444923C>T	ENST00000382396.4	-	7	650	c.564G>A	c.(562-564)acG>acA	p.T188T	PLA2G4F_ENST00000397272.3_Silent_p.T188T			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	188					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCCCCGGAGCGTGCCCTGGA	0.627																																																	0								ENSG00000168907						45	37	40					15																	42444923		2185	4270	6455	PLA2G4F	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.564G>A	15.37:g.42444923C>T		Somatic	0	17	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q6ZMC8	Silent	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.T188	ENST00000382396.4	37	c.564	CCDS32204.1	15																																																																																			-	NULL		0.627	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	protein_coding	OTTHUMT00000420463.1	C	NM_213600	-		42444923	-1	no_errors	ENST00000397272	ensembl	human	known	74_37	silent	SNP	0.006	T	T	42444923	C	T	42444923	2	4	128	1	0	0	0	0	0	0	0	1	12008	755	27	1		1	PLA2G4F	15	42444923	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	764217	42444923	60086469	240	9753											
DUOX1	53905	genome.wustl.edu	37	chr15	45455992	45455992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttccctaccatagtacaTctgtgagcggcacttccaga	7	15	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:45455992T>C	ENST00000321429.4	+	34	4816	c.4409T>C	c.(4408-4410)aTc>aCc	p.I1470T	DUOX1_ENST00000561166.1_Missense_Mutation_p.I1116T|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.I1470T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1470					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)		CCATAGTACATCTGTGAGCGG	0.572											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000137857						139	125	130					15																	45455992		2198	4298	6496	DUOX1	SO:0001583	missense	0			-	HGNC	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.4409T>C	15.37:g.45455992T>C	ENSP00000317997:p.Ile1470Thr	Somatic	0	61	0	931	0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	31.15	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.I1470T	ENST00000321429.4	37	c.4409	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970246	0.74246	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.94828	-3.53;-3.53	4.21	4.21	0.49690	Ferric reductase, NAD binding (1);	0.054958	0.64402	D	0.000001	D	0.95526	0.8546	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.95564	0.8632	10	0.87932	D	0	-26.9461	11.2976	0.49288	0.0:0.0:0.0:1.0	.	1470	Q9NRD9	DUOX1_HUMAN	T	1470	ENSP00000317997:I1470T;ENSP00000373689:I1470T	ENSP00000317997:I1470T	I	+	2	0	DUOX1	43243284	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.752000	0.85141	1.764000	0.52075	0.402000	0.26972	ATC	-	pfam_Fe_red_NAD-bd_6		0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	T	NM_017434	-		45455992	1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	SNP	1.000	C	C	45455992	T	C	45455992	3	2	128	1	0	0	0	0	1	0	0	0	4802	1435	50	5	4535	5	DUOX1	15	45455992	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	3011069	45455992	57075400	241	9754											
DTWD1	56986	genome.wustl.edu	37	chr15	49917553	49917553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtctcaaatgtggtggTtccagaatgttctactgcta	9	7	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:49917553T>C	ENST00000251250.6	+	3	396	c.189T>C	c.(187-189)ggT>ggC	p.G63G	DTWD1_ENST00000329873.5_Silent_p.G63G|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Silent_p.G63G|DTWD1_ENST00000403028.3_Silent_p.G63G	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	63										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AATGTGGTGGTTCCAGAATGT	0.353																																																	0								ENSG00000104047						89	83	85					15																	49917553		2196	4295	6491	DTWD1	SO:0001819	synonymous_variant	0			-	HGNC	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.189T>C	15.37:g.49917553T>C		Somatic	0	139	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	92	31.34	Q567Q3|Q8WVG9|Q9NRU6	Silent	SNP							pfam_DTW	p.G63	ENST00000251250.6	37	c.189	CCDS10132.1	15																																																																																			-	NULL		0.353	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	protein_coding	OTTHUMT00000254431.2	T	NM_020234	-		49917553	1	no_errors	ENST00000251250	ensembl	human	known	74_37	silent	SNP	0.941	C	C	49917553	T	C	49917553	2	2	128	1	0	0	0	0	0	0	0	1	4793	1712	60	5		5	DTWD1	15	49917553	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	4461561	49917553	52613839	242	9755											
NEDD4	4734	genome.wustl.edu	37	chr15	56164658	56164658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatgtatatggtctctccAatcttggattttctgtctag	7	7	4	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:56164658A>G	ENST00000508342.1	-	3	1915	c.1616T>C	c.(1615-1617)tTg>tCg	p.L539S	NEDD4_ENST00000338963.2_Intron|NEDD4_ENST00000435532.3_Missense_Mutation_p.L120S|NEDD4_ENST00000506154.1_Missense_Mutation_p.L539S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	539					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGGTCTCTCCAATCTTGGATT	0.274																																																	0								ENSG00000069869						24	23	24					15																	56164658		1669	3844	5513	NEDD4	SO:0001583	missense	0			-	HGNC	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1616T>C	15.37:g.56164658A>G	ENSP00000424827:p.Leu539Ser	Somatic	0	133	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	158	22.55	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.L539S	ENST00000508342.1	37	c.1616		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.51|13.51	2.259118|2.259118	0.39896|0.39896	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000506154|ENST00000508871	D;D;T|.	0.91631|.	-2.88;-2.88;-0.57|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|.	.|.	.|.	.|.	T|T	0.46814|0.46814	0.1412|0.1412	L|L	0.36672|0.36672	1.1|1.1	0.28220|0.28220	N|N	0.926557|0.926557	B;B;B|.	0.21821|.	0.007;0.003;0.061|.	B;B;B|.	0.20184|.	0.005;0.005;0.028|.	T|T	0.42085|0.42085	-0.9472|-0.9472	9|5	0.40728|.	T|.	0.16|.	.|.	14.5043|14.5043	0.67743|0.67743	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	539;120;539|.	P46934-2;P46934-4;P46934|.	.;.;NEDD4_HUMAN|.	S|R	539;120;539|130	ENSP00000424827:L539S;ENSP00000410613:L120S;ENSP00000422705:L539S|.	ENSP00000410613:L120S|.	L|W	-|-	2|1	0|0	NEDD4|NEDD4	53951950|53951950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.841000|1.841000	0.39240|0.39240	2.031000|2.031000	0.59945|0.59945	0.383000|0.383000	0.25322|0.25322	TTG|TGG	-	superfamily_C2_dom		0.274	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	protein_coding	OTTHUMT00000359817.1	A	NM_198400	-		56164658	-1	no_errors	ENST00000508342	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56164658	A	G	56164658	3	3	128	1	0	0	0	0	1	0	0	0	10312	131	5	5	2435	5	NEDD4	15	56164658	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	6247105	56164658	46366734	243	9756											
KIF23	9493	genome.wustl.edu	37	chr15	69732777	69732777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagagaccctctcgggagcGagatcgagaaaaagttactc	12	9	1	4			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:69732777G>A	ENST00000260363.4	+	17	2135	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q	KIF23_ENST00000352331.4_Missense_Mutation_p.R673Q|KIF23_ENST00000558585.1_Missense_Mutation_p.R490Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R490Q|KIF23_ENST00000395392.2_Missense_Mutation_p.R673Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R673Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	673					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCTCGGGAGCGAGATCGAGAA	0.388																																																	0								ENSG00000137807						79	83	82					15																	69732777		2199	4298	6497	KIF23	SO:0001583	missense	0			-	HGNC	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2018G>A	15.37:g.69732777G>A	ENSP00000260363:p.Arg673Gln	Somatic	0	44	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	Q8WVP0	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R673Q	ENST00000260363.4	37	c.2018	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751567	0.69533	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.32	5.32	0.75619	.	0.234670	0.42294	D	0.000725	T	0.49695	0.1572	N	0.19112	0.55	0.44098	D	0.99686	B;D;D	0.63880	0.265;0.993;0.99	B;P;P	0.48400	0.047;0.576;0.505	T	0.38972	-0.9636	10	0.13108	T	0.6	.	11.7768	0.51991	0.0807:0.0:0.9193:0.0	.	490;673;673	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	Q	673;673;673;490	ENSP00000260363:R673Q;ENSP00000304978:R673Q;ENSP00000378790:R673Q;ENSP00000442969:R490Q	ENSP00000260363:R673Q	R	+	2	0	KIF23	67519831	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.052000	0.49893	2.641000	0.89580	0.591000	0.81541	CGA	-	NULL		0.388	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	protein_coding		G		-		69732777	1	no_errors	ENST00000260363	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69732777	G	A	69732777	3	1	128	1	0	0	0	0	1	0	0	0	8293	1058	37	1	2084	1	KIF23	15	69732777	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	13568119	69732777	32798615	244	9757											
LRRC49	54839	genome.wustl.edu	37	chr15	71341850	71341850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctttgcagaagctttggCcacagatgttcattgagctt	11	8	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:71341850C>T	ENST00000260382.5	+	16	2220	c.1960C>T	c.(1960-1962)Cca>Tca	p.P654S	LRRC49_ENST00000560691.1_Missense_Mutation_p.P360S|LRRC49_ENST00000560369.1_Missense_Mutation_p.P659S|LRRC49_ENST00000443425.2_Missense_Mutation_p.P610S|LRRC49_ENST00000560158.2_Missense_Mutation_p.P342S|LRRC49_ENST00000544974.2_Missense_Mutation_p.P644S|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	654						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAAGCTTTGGCCACAGATGTT	0.358																																																	0								ENSG00000137821						108	116	113					15																	71341850		2199	4297	6496	LRRC49	SO:0001583	missense	0			-	HGNC		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1960C>T	15.37:g.71341850C>T	ENSP00000260382:p.Pro654Ser	Somatic	0	77	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	59	34.44	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P654S	ENST00000260382.5	37	c.1960	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	c	21.2	4.120916	0.77436	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.51071	0.74;0.76;0.72	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.55743	1.74	0.49798	D	0.999824	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.986	D;D;D;D;P	0.79784	0.985;0.993;0.983;0.985;0.88	T	0.64232	-0.6456	10	0.56958	D	0.05	-12.8594	16.5586	0.84534	0.0:1.0:0.0:0.0	.	659;626;610;654;644	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	644;654;610;626	ENSP00000439600:P644S;ENSP00000260382:P654S;ENSP00000414065:P610S	ENSP00000260382:P654S	P	+	1	0	LRRC49	69128904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.094000	0.64523	2.774000	0.95407	0.655000	0.94253	CCA	-	NULL		0.358	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	protein_coding	OTTHUMT00000417209.3	C	NM_017691	-		71341850	1	no_errors	ENST00000260382	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71341850	C	T	71341850	3	4	128	1	0	0	0	0	1	0	0	0	9008	739	26	2	2022	2	LRRC49	15	71341850	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1609073	71341850	31189542	245	9758											
ARID3B	10620	genome.wustl.edu	37	chr15	74883522	74883522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgtatgcctatgagtgTgagaagaaagccttgagttc	11	6	1	4			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:74883522T>C	ENST00000346246.5	+	6	1143	c.912T>C	c.(910-912)tgT>tgC	p.C304C		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	304	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.|Interaction with RB1.					nucleus (GO:0005634)	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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTATGAGTGTGAGAAGAAAG	0.552																																																	0								ENSG00000179361						120	131	128					15																	74883522		2197	4295	6492	ARID3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.912T>C	15.37:g.74883522T>C		Somatic	0	63	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.62	O95443|Q59HC9|Q6P9C9	Silent	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.C304	ENST00000346246.5	37	c.912	CCDS10264.1	15																																																																																			-	superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.552	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	T	NM_006465	-		74883522	1	no_errors	ENST00000346246	ensembl	human	known	74_37	silent	SNP	1.000	C	C	74883522	T	C	74883522	2	2	128	1	0	0	0	0	0	0	0	1	917	1702	59	5		5	ARID3B	15	74883522	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	3541672	74883522	27647870	246	9759											
ARID3B	10620	genome.wustl.edu	37	chr15	74883953	74883953	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatcgtctggctgtgccCgtgaccttggcaagccagca	11	14	1	1	rs569459248		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:74883953C>A	ENST00000346246.5	+	7	1449	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	406						nucleus (GO:0005634)	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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TGGCTGTGCCCGTGACCTTGG	0.617																																																	0								ENSG00000179361						22	25	24					15																	74883953		2197	4294	6491	ARID3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1218C>A	15.37:g.74883953C>A		Somatic	0	35	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	O95443|Q59HC9|Q6P9C9	Silent	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P406	ENST00000346246.5	37	c.1218	CCDS10264.1	15																																																																																			-	NULL		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	C	NM_006465	-		74883953	1	no_errors	ENST00000346246	ensembl	human	known	74_37	silent	SNP	0.002	A	A	74883953	C	A	74883953	2	1	128	1	0	0	0	0	0	0	0	1	917	639	23	3		3	ARID3B	15	74883953	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	431	74883953	27647439	247	9760											
AGPHD1	123688	genome.wustl.edu	37	chr15	78805653	78805653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaccaaggctagcaaaaatCcagacctgattgaagtgcag	9	10	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:78805653C>T	ENST00000569878.1	+	1	223	c.223C>T	c.(223-225)Cca>Tca	p.P75S	HYKK_ENST00000388988.4_Missense_Mutation_p.P75S|HYKK_ENST00000360519.3_Missense_Mutation_p.P75S|HYKK_ENST00000566332.1_Missense_Mutation_p.P75S|HYKK_ENST00000408962.2_Missense_Mutation_p.P75S|HYKK_ENST00000563233.1_Missense_Mutation_p.P75S			A2RU49	HYKK_HUMAN	hydroxylysine kinase	75						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										TAGCAAAAATCCAGACCTGAT	0.418																																																	0								ENSG00000188266						120	115	117					15																	78805653		1891	4122	6013	HYKK	SO:0001583	missense	0			-	HGNC	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.223C>T	15.37:g.78805653C>T	ENSP00000455459:p.Pro75Ser	Somatic	0	96	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	63	24.10	B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.P75S	ENST00000569878.1	37	c.223	CCDS42063.1	15	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101310	0.06967	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.29917	1.55;1.55;1.55	5.83	2.25	0.28309	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.532223	0.19961	N	0.102201	T	0.23492	0.0568	L	0.47016	1.485	0.09310	N	1	B;B	0.25719	0.005;0.132	B;B	0.27170	0.038;0.077	T	0.12656	-1.0539	10	0.22706	T	0.39	-11.0976	7.8779	0.29605	0.0:0.4596:0.417:0.1233	.	75;75	A2RU49;A2RU49-3	AGPD1_HUMAN;.	S	75	ENSP00000386197:P75S;ENSP00000373640:P75S;ENSP00000353710:P75S	ENSP00000353710:P75S	P	+	1	0	AGPHD1	76592708	0.002000	0.14202	0.848000	0.33437	0.680000	0.39746	0.564000	0.23563	1.428000	0.47296	0.655000	0.94253	CCA	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.418	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HYKK	protein_coding	OTTHUMT00000435834.1	C	NM_001013619	-		78805653	1	no_errors	ENST00000388988	ensembl	human	known	74_37	missense	SNP	0.001	T	T	78805653	C	T	78805653	3	4	128	1	0	0	0	0	1	0	0	0	393	855	30	2	225	2	AGPHD1	15	78805653	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3921700	78805653	23725739	248	9761											
ACAN	176	genome.wustl.edu	37	chr15	89391218	89391218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaggacctatggcgtgCgcccatcaacagagacctac	12	13	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:89391218C>T	ENST00000561243.1	+	8	1681	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ACAN_ENST00000439576.2_Missense_Mutation_p.R561C|ACAN_ENST00000558207.1_Missense_Mutation_p.R561C|ACAN_ENST00000559004.1_Missense_Mutation_p.R561C|ACAN_ENST00000352105.7_Missense_Mutation_p.R561C			P16112	PGCA_HUMAN	aggrecan	561	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)			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)			CTATGGCGTGCGCCCATCAAC	0.582																																																	0								ENSG00000157766						114	121	119					15																	89391218		1993	4165	6158	ACAN	SO:0001583	missense	0			-	HGNC	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.1681C>T	15.37:g.89391218C>T	ENSP00000453342:p.Arg561Cys	Somatic	0	43	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R561C	ENST00000561243.1	37	c.1681	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023625	0.54683	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.14266	2.52;2.52	5.35	4.38	0.52667	.	.	.	.	.	T	0.44746	0.1308	M	0.92459	3.31	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.54098	-0.8344	9	0.72032	D	0.01	-16.0762	11.904	0.52701	0.1739:0.826:0.0:0.0	.	561;561;561	E7ENV9;E7EX88;Q6PID9	.;.;.	C	561	ENSP00000387356:R561C;ENSP00000341615:R561C	ENSP00000268134:R561C	R	+	1	0	ACAN	87192222	1.000000	0.71417	0.955000	0.39395	0.759000	0.43091	1.613000	0.36900	2.518000	0.84900	0.563000	0.77884	CGC	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135	-		89391218	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89391218	C	T	89391218	3	4	128	1	0	0	0	0	1	0	0	0	117	768	27	1	1711	1	ACAN	15	89391218	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	10585565	89391218	13140174	249	9762											
LRRK1	79705	genome.wustl.edu	37	chr15	101464888	101464888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtactggtgtgtggggccGgaggagtcagctgtgtgtcc	18	7	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr15:101464888G>A	ENST00000388948.3	+	2	410	c.51G>A	c.(49-51)ccG>ccA	p.P17P	LRRK1_ENST00000284395.5_5'UTR|LRRK1_ENST00000532029.2_Silent_p.P17P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.P17P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTGGGGCCGGAGGAGTCAG	0.592																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000154237						115	134	128					15																	101464888		2203	4300	6503	LRRK1	SO:0001819	synonymous_variant	0			-	HGNC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.51G>A	15.37:g.101464888G>A		Somatic	0	77	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P17	ENST00000388948.3	37	c.51	CCDS42086.1	15																																																																																			-	NULL		0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	G	NM_024652	-		101464888	1	no_errors	ENST00000388948	ensembl	human	known	74_37	silent	SNP	0.622	A	A	101464888	G	A	101464888	2	1	128	1	0	0	0	0	0	0	0	1	9034	1103	39	1		1	LRRK1	15	101464888	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	12073670	101464888	1066504	250	9763											
AXIN1	8312	genome.wustl.edu	37	chr16	396193	396193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctactggaggagaccctcGgggcagctgtctccaggagc	15	12	2	1	rs147515329	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:396193G>A	ENST00000262320.3	-	2	1204	c.833C>T	c.(832-834)cCg>cTg	p.P278L	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.P278L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	278	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.P278Q(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGAGACCCTCGGGGCAGCTGT	0.602																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000103126	G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	47	49	48		833,833	4.1	0.9	16	dbSNP_134	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	AXIN1	NM_003502.3,NM_181050.2	98,98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	278/863,278/827	396193	4,13002	2203	4300	6503	AXIN1	SO:0001583	missense	0			-	HGNC	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.833C>T	16.37:g.396193G>A	ENSP00000262320:p.Pro278Leu	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP							pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.P278L	ENST00000262320.3	37	c.833	CCDS10405.1	16	.	.	.	.	.	.	.	.	.	.	G	7.638	0.680240	0.14907	0.0	4.65E-4	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.59224	0.28;0.28	5.1	4.09	0.47781	.	0.346259	0.32473	N	0.006045	T	0.29588	0.0738	N	0.03154	-0.405	0.46222	D	0.998935	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.08106	-1.0738	10	0.10636	T	0.68	-1.7229	10.652	0.45653	0.0:0.0:0.3643:0.6357	.	278;278	O15169-2;O15169	.;AXIN1_HUMAN	L	278	ENSP00000262320:P278L;ENSP00000346935:P278L	ENSP00000262320:P278L	P	-	2	0	AXIN1	336194	1.000000	0.71417	0.949000	0.38748	0.996000	0.88848	4.446000	0.60014	1.063000	0.40649	0.655000	0.94253	CCG	-	NULL		0.602	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	protein_coding	OTTHUMT00000139441.3	G		rs147515329		396193	-1	no_errors	ENST00000262320	ensembl	human	known	74_37	missense	SNP	1.000	A	A	396193	G	A	396193	3	1	128	1	0	0	0	0	1	0	0	0	1236	1116	39	1	1795	1	AXIN1	16	396193	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		396193	89958560	251	9764											
TPSG1	8912	genome.wustl.edu	37	chr16	1271958	1271958	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctgtgatgtggcggcGgatccagttcacgtaggcag	16	8	1	2	rs146886017		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:1271958G>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R266C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ATGTGGCGGCGGATCCAGTTC	0.662													g|||	1	0.000199681	0	0	5008	,	,		13674	0.001		0	False		,,,				2504	0																0								ENSG00000116176		CYS/ARG	0,4392		0,0,2196	29	39	36		796	2.1	0.1	16	dbSNP_134	36	1,8595	1.2+/-3.3	0,1,4297	yes	missense	TPSG1	NM_012467.3	180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	266/322	1271958	1,12987	2196	4298	6494	TPSG1	SO:0001628	intergenic_variant	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271958G>A		Somatic	0	27	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R266C	ENST00000348261.5	37	c.796	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	6.320	0.427207	0.11987	0.0	1.16E-4	ENSG00000116176	ENST00000234798	D	0.93426	-3.22	4.14	2.12	0.27331	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.89791	0.6817	L	0.58583	1.82	0.21105	N	0.999781	B	0.24721	0.11	B	0.15052	0.012	T	0.81803	-0.0765	9	0.72032	D	0.01	.	6.6357	0.22881	0.318:0.0:0.682:0.0	.	266	Q9NRR2	TRYG1_HUMAN	C	266	ENSP00000234798:R266C	ENSP00000234798:R266C	R	-	1	0	TPSG1	1211959	0.330000	0.24705	0.129000	0.21949	0.084000	0.17831	0.440000	0.21592	0.294000	0.22547	0.645000	0.84053	CGC	-	superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	protein_coding	OTTHUMT00000421601.1	G	NM_001005407	rs146886017		1271958	-1	no_errors	ENST00000234798	ensembl	human	known	74_37	missense	SNP	0.030	A	A	1271958	G	A	1271958	1	1	128	0	1	0	0	0	0	0	0	0	16433	1116	39	1		1	TPSG1	16	1271958	IGR	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	875765	1271958	89082795	252	9765											
TELO2	9894	genome.wustl.edu	37	chr16	1547054	1547054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggcctggattcctccGtgtccttcgtgtctcaggtc	12	13	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:1547054G>A	ENST00000262319.6	+	4	910	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	211					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGATTCCTCCGTGTCCTTCGT	0.617																																																	0								ENSG00000100726						121	84	97					16																	1547054		2199	4300	6499	TELO2	SO:0001583	missense	0			-	HGNC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.631G>A	16.37:g.1547054G>A	ENSP00000262319:p.Val211Met	Somatic	0	40	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP							pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.V211M	ENST00000262319.6	37	c.631	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	g	12.38	1.919452	0.33908	.	.	ENSG00000100726	ENST00000262319	T	0.33216	1.42	5.05	1.6	0.23607	.	0.387835	0.26851	N	0.022163	T	0.21718	0.0523	L	0.60455	1.87	0.33543	D	0.595114	P	0.44986	0.847	B	0.36378	0.223	T	0.29761	-1.0001	10	0.32370	T	0.25	-30.0137	5.5524	0.17097	0.5511:0.0:0.4489:0.0	.	211	Q9Y4R8	TELO2_HUMAN	M	211	ENSP00000262319:V211M	ENSP00000262319:V211M	V	+	1	0	TELO2	1487055	0.038000	0.19896	0.151000	0.22473	0.015000	0.08874	0.281000	0.18810	0.535000	0.28714	-0.144000	0.13903	GTG	-	NULL		0.617	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	protein_coding	OTTHUMT00000103602.2	G	NM_016111	-		1547054	1	no_errors	ENST00000262319	ensembl	human	known	74_37	missense	SNP	0.791	A	A	1547054	G	A	1547054	3	1	128	1	0	0	0	0	1	0	0	0	15764	1145	40	1	641	1	TELO2	16	1547054	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	275096	1547054	88807699	253	9766											
TSC2	7249	genome.wustl.edu	37	chr16	2126103	2126103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgtctggcccatcacGtcatagccatgtggttcatc	10	12	4	0	rs137854068|rs397515098|rs376801256		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:2126103G>A	ENST00000219476.3	+	24	3304	c.2674G>A	c.(2674-2676)Gtc>Atc	p.V892I	TSC2_ENST00000350773.4_Missense_Mutation_p.V892I|TSC2_ENST00000382538.6_Missense_Mutation_p.V843I|TSC2_ENST00000439673.2_Missense_Mutation_p.V855I|TSC2_ENST00000568454.1_Missense_Mutation_p.V903I|TSC2_ENST00000401874.2_Missense_Mutation_p.V892I|TSC2_ENST00000353929.4_Missense_Mutation_p.V892I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	892					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCCCATCACGTCATAGCCAT	0.562			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0								ENSG00000103197	G	ILE/VAL,ILE/VAL,ILE/VAL	0,4396		0,0,2198	129	106	114		2674,2674,2674	5.1	1	16		114	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	29,29,29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	892/1808,892/1741,892/1785	2126103	1,12993	2198	4299	6497	TSC2	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	-	HGNC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2674G>A	16.37:g.2126103G>A	ENSP00000219476:p.Val892Ile	Somatic	0	60	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	60	23.08	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP							pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.V892I	ENST00000219476.3	37	c.2674	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.213774	0.95069	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.09	5.09	0.68999	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	L	0.55743	1.74	0.80722	D	1	D;P;D;D;D;D	0.89917	0.999;0.882;1.0;0.998;0.999;0.994	D;B;D;D;D;D	0.80764	0.974;0.411;0.97;0.934;0.994;0.972	D	0.93947	0.7228	10	0.49607	T	0.09	-46.1221	18.5131	0.90925	0.0:0.0:1.0:0.0	.	843;855;892;892;892;892	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	I	892;892;892;855;843;892	ENSP00000219476:V892I;ENSP00000384468:V892I;ENSP00000248099:V892I;ENSP00000399232:V855I;ENSP00000371978:V843I;ENSP00000344383:V892I	ENSP00000219476:V892I	V	+	1	0	TSC2	2066104	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.787000	0.99055	2.367000	0.80283	0.561000	0.74099	GTC	-	pfam_Tuberin-type_domain,prints_Tuberin		0.562	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	G	NM_000548	-		2126103	1	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2126103	G	A	2126103	3	1	128	1	0	0	0	0	1	0	0	0	16613	1145	40	1	2764	1	TSC2	16	2126103	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	579049	2126103	88228650	254	9767											
E4F1	1877	genome.wustl.edu	37	chr16	2284933	2284933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccaccaccgtcctcacGgaagacccgcacacagtgtt	9	17	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:2284933G>A	ENST00000301727.4	+	12	1914	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Silent_p.T445T|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Silent_p.T622T|DNASE1L2_ENST00000320700.5_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	622					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCGTCCTCACGGAAGACCCGC	0.657																																																	0								ENSG00000167967						13	13	13					16																	2284933		2154	4275	6429	E4F1	SO:0001819	synonymous_variant	0			-	HGNC	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1866G>A	16.37:g.2284933G>A		Somatic	0	25	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	34.78	A8K2R4|O00146	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T622	ENST00000301727.4	37	c.1866	CCDS32370.1	16																																																																																			-	NULL		0.657	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	protein_coding	OTTHUMT00000435225.1	G	NM_004424	-		2284933	1	no_errors	ENST00000301727	ensembl	human	known	74_37	silent	SNP	0.002	A	A	2284933	G	A	2284933	2	1	128	1	0	0	0	0	0	0	0	1	4876	1103	39	1		1	E4F1	16	2284933	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	158830	2284933	88069820	255	9768											
TFAP4	7023	genome.wustl.edu	37	chr16	4308077	4308077	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggaagctccccgtccccCgacggctcctcccggctctg	11	20	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:4308077C>A	ENST00000204517.6	-	7	1324	c.996G>T	c.(994-996)tcG>tcT	p.S332S		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	332					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCCCGTCCCCCGACGGCTCCT	0.706																																																	0								ENSG00000090447																																			TFAP4	SO:0001819	synonymous_variant	0			-	HGNC	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.996G>T	16.37:g.4308077C>A		Somatic	0	62	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	O60409	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S332	ENST00000204517.6	37	c.996	CCDS10510.1	16																																																																																			-	NULL		0.706	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	protein_coding	OTTHUMT00000251595.2	C	NM_003223	-		4308077	-1	no_errors	ENST00000204517	ensembl	human	known	74_37	silent	SNP	0.004	A	A	4308077	C	A	4308077	2	1	128	1	0	0	0	0	0	0	0	1	15799	639	23	3		3	TFAP4	16	4308077	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2023144	4308077	86046676	256	9769											
TFAP4	7023	genome.wustl.edu	37	chr16	4308095	4308095	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccgacggctcctcccggctCtggtccatggcgtcactgtc	11	18	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:4308095C>G	ENST00000204517.6	-	7	1306	c.978G>C	c.(976-978)caG>caC	p.Q326H		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	326					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCTCCCGGCTCTGGTCCATGG	0.711																																																	0								ENSG00000090447						22	25	24					16																	4308095		2195	4299	6494	TFAP4	SO:0001583	missense	0			-	HGNC	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.978G>C	16.37:g.4308095C>G	ENSP00000204517:p.Gln326His	Somatic	0	54	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	O60409	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q326H	ENST00000204517.6	37	c.978	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532369	0.45073	.	.	ENSG00000090447	ENST00000204517	D	0.98996	-5.31	4.57	4.57	0.56435	.	0.000000	0.45606	D	0.000343	D	0.97300	0.9117	L	0.44542	1.39	0.33943	D	0.643434	B	0.30824	0.296	B	0.35550	0.205	D	0.99972	1.2049	10	0.87932	D	0	.	10.8232	0.46617	0.0:0.9119:0.0:0.0881	.	326	Q01664	TFAP4_HUMAN	H	326	ENSP00000204517:Q326H	ENSP00000204517:Q326H	Q	-	3	2	TFAP4	4248096	.	.	1.000000	0.80357	0.979000	0.70002	.	.	2.376000	0.81061	0.585000	0.79938	CAG	-	NULL		0.711	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	protein_coding	OTTHUMT00000251595.2	C	NM_003223	-		4308095	-1	no_errors	ENST00000204517	ensembl	human	known	74_37	missense	SNP	1.000	G	G	4308095	C	G	4308095	3	3	128	1	0	0	0	0	1	0	0	0	15799	912	32	4	42	4	TFAP4	16	4308095	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	18	4308095	86046658	257	9770											
TFAP4	7023	genome.wustl.edu	37	chr16	4312668	4312668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccgccgctcctggtcccGctgagtctcgggggttagtg	14	13	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:4312668G>A	ENST00000204517.6	-	2	452	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	42					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TCCTGGTCCCGCTGAGTCTCG	0.622																																																	0								ENSG00000090447						82	87	86					16																	4312668		2197	4300	6497	TFAP4	SO:0001583	missense	0			-	HGNC	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.124C>T	16.37:g.4312668G>A	ENSP00000204517:p.Arg42Trp	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	O60409	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R42W	ENST00000204517.6	37	c.124	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864473	0.51482	.	.	ENSG00000090447	ENST00000204517	D	0.98926	-5.24	5.57	-1.16	0.09678	Helix-loop-helix DNA-binding (1);	0.069327	0.56097	D	0.000031	D	0.97105	0.9054	N	0.08118	0	0.47698	D	0.99949	D	0.89917	1.0	D	0.75020	0.985	D	0.94273	0.7512	10	0.41790	T	0.15	.	16.3691	0.83347	0.0:0.0:0.4388:0.5612	.	42	Q01664	TFAP4_HUMAN	W	42	ENSP00000204517:R42W	ENSP00000204517:R42W	R	-	1	2	TFAP4	4252669	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.109000	0.41863	-0.011000	0.14247	0.591000	0.81541	CGG	-	superfamily_bHLH_dom		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	protein_coding	OTTHUMT00000251595.2	G	NM_003223	-		4312668	-1	no_errors	ENST00000204517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4312668	G	A	4312668	3	1	128	1	0	0	0	0	1	0	0	0	15799	1086	38	1	916	1	TFAP4	16	4312668	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4573	4312668	86042085	258	9771											
GLIS2	84662	genome.wustl.edu	37	chr16	4383462	4383462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcccccaatggcagcaGctcgctgtcccccgagcgcc	11	19	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:4383462G>A	ENST00000262366.3	+	4	1108	c.287G>A	c.(286-288)aGc>aAc	p.S96N	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.S96N			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	96	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|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)|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)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|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)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGGCAGCAGCTCGCTGTCC	0.652																																																	0								ENSG00000126603						29	26	27					16																	4383462		2196	4299	6495	GLIS2	SO:0001583	missense	0			-	HGNC	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.287G>A	16.37:g.4383462G>A	ENSP00000262366:p.Ser96Asn	Somatic	0	76	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	58	29.76	B3KX84	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S96N	ENST00000262366.3	37	c.287	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400514	0.42613	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.10763	2.84;2.84	4.83	1.54	0.23209	.	0.425529	0.23217	N	0.050603	T	0.05502	0.0145	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	10	0.22109	T	0.4	.	8.1939	0.31385	0.105:0.5443:0.3506:0.0	.	96	Q9BZE0	GLIS2_HUMAN	N	96	ENSP00000262366:S96N;ENSP00000395547:S96N	ENSP00000262366:S96N	S	+	2	0	GLIS2	4323463	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.859000	0.27858	0.440000	0.26502	0.485000	0.47835	AGC	-	NULL		0.652	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	protein_coding	OTTHUMT00000251630.1	G	NM_032575	-		4383462	1	no_errors	ENST00000262366	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4383462	G	A	4383462	3	1	128	1	0	0	0	0	1	0	0	0	6448	971	34	2	293	2	GLIS2	16	4383462	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	70794	4383462	85971291	259	9772											
GLIS2	84662	genome.wustl.edu	37	chr16	4387501	4387501	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcccgccgggctcggtgctGctcaaaccggctgtggtgaa	14	13	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:4387501G>C	ENST00000262366.3	+	8	2372	c.1551G>C	c.(1549-1551)ctG>ctC	p.L517L	RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.L517L			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	517					cell differentiation (GO:0030154)|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)|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)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|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)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTCGGTGCTGCTCAAACCGG	0.682																																																	0								ENSG00000126603						11	10	10					16																	4387501		2154	4245	6399	GLIS2	SO:0001819	synonymous_variant	0			-	HGNC	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1551G>C	16.37:g.4387501G>C		Somatic	0	70	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	B3KX84	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L517	ENST00000262366.3	37	c.1551	CCDS10511.1	16																																																																																			-	NULL		0.682	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	protein_coding	OTTHUMT00000251630.1	G	NM_032575	-		4387501	1	no_errors	ENST00000262366	ensembl	human	known	74_37	silent	SNP	1.000	C	C	4387501	G	C	4387501	2	2	128	1	0	0	0	0	0	0	0	1	6448	1306	46	4		4	GLIS2	16	4387501	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4039	4387501	85967252	260	9773											
CORO7	79585	genome.wustl.edu	37	chr16	4411429	4411429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctgccccattctgcagCgtgggcagtgccgtgtcggg	15	13	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:4411429C>T	ENST00000251166.4	-	17	1765	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	CORO7_ENST00000537233.2_Silent_p.T522T|CORO7_ENST00000423908.2_3'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.T540T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000539968.1_Silent_p.T320T|CORO7_ENST00000574025.1_Silent_p.T455T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	540					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CATTCTGCAGCGTGGGCAGTG	0.672																																																	0								ENSG00000262246						51	54	53					16																	4411429		2197	4299	6496	CORO7	SO:0001819	synonymous_variant	0			-	HGNC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1620G>A	16.37:g.4411429C>T		Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP							NULL	p.R102H	ENST00000251166.4	37	c.305	CCDS10513.1	16																																																																																			-	NULL		0.672	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	protein_coding	OTTHUMT00000251628.2	C	NM_024535	-		4411429	-1	no_errors	ENST00000576437	ensembl	human	known	74_37	missense	SNP	0.996	T	T	4411429	C	T	4411429	2	4	128	1	0	0	0	0	0	0	0	1	3761	755	27	1		1	CORO7	16	4411429	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	23928	4411429	85943324	261	9774											
POLR3E	55718	genome.wustl.edu	37	chr16	22337274	22337274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacgaggagcaggaggCggaggaggagcccatggaca	21	7	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:22337274C>T	ENST00000299853.5	+	18	1708	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	POLR3E_ENST00000564209.1_Missense_Mutation_p.A514V|POLR3E_ENST00000359210.4_Missense_Mutation_p.A514V|POLR3E_ENST00000418581.2_Missense_Mutation_p.A478V	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	514					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		gagcaggaggcggaggaggag	0.716																																																	0								ENSG00000058600						34	28	30					16																	22337274		2182	4277	6459	POLR3E	SO:0001583	missense	0			-	HGNC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"RNA polymerase subunits"	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1541C>T	16.37:g.22337274C>T	ENSP00000299853:p.Ala514Val	Somatic	0	147	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	99	28.67	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP							pfam_RNA_pol_III_Rpc5	p.A514V	ENST00000299853.5	37	c.1541	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	c	3.050	-0.195562	0.06259	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.43294	0.95;0.96;0.95	4.07	-6.86	0.01676	.	0.586078	0.14238	N	0.332280	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.13145	0.002;0.0;0.0;0.002;0.0;0.007	B;B;B;B;B;B	0.08055	0.001;0.001;0.0;0.003;0.001;0.003	T	0.06215	-1.0839	10	0.49607	T	0.09	-1.5505	2.9338	0.05808	0.1307:0.2013:0.1289:0.539	.	458;478;514;514;514;514	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	V	514;514;478	ENSP00000299853:A514V;ENSP00000352140:A514V;ENSP00000399254:A478V	ENSP00000299853:A514V	A	+	2	0	POLR3E	22244775	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.256000	0.02869	-1.127000	0.02925	-1.438000	0.01074	GCG	-	NULL		0.716	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	protein_coding	OTTHUMT00000211590.1	C	NM_018119	-		22337274	1	no_errors	ENST00000299853	ensembl	human	known	74_37	missense	SNP	0.000	T	T	22337274	C	T	22337274	3	4	128	1	0	0	0	0	1	0	0	0	12234	768	27	1	1607	1	POLR3E	16	22337274	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	17925845	22337274	68017479	262	9775											
SLC5A11	115584	genome.wustl.edu	37	chr16	24895407	24895407	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctacacggatgccctgCagacgctgatcatgcttata	9	11	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:24895407C>T	ENST00000347898.3	+	8	1241	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	SLC5A11_ENST00000568579.1_Nonsense_Mutation_p.Q137*|SLC5A11_ENST00000567758.1_Nonsense_Mutation_p.Q172*|SLC5A11_ENST00000424767.2_Nonsense_Mutation_p.Q172*|SLC5A11_ENST00000545376.1_Nonsense_Mutation_p.Q137*|SLC5A11_ENST00000569071.1_Nonsense_Mutation_p.Q143*|SLC5A11_ENST00000565769.1_Nonsense_Mutation_p.Q143*|SLC5A11_ENST00000539472.1_Nonsense_Mutation_p.Q143*|SLC5A11_ENST00000449109.2_Nonsense_Mutation_p.Q143*	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGATGCCCTGCAGACGCTGAT	0.607																																																	0								ENSG00000158865						195	177	183					16																	24895407		2197	4300	6497	SLC5A11	SO:0001587	stop_gained	0			-	HGNC	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.619C>T	16.37:g.24895407C>T	ENSP00000289932:p.Gln207*	Somatic	0	22	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75		Nonsense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.Q207*	ENST00000347898.3	37	c.619	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.608666	0.98387	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0468	0.80725	0.0:1.0:0.0:0.0	.	.	.	.	X	207;143;172;137;143	.	ENSP00000289932:Q207X	Q	+	1	0	SLC5A11	24802908	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.538000	0.82048	2.376000	0.81061	0.655000	0.94253	CAG	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.607	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	protein_coding	OTTHUMT00000214091.3	C	NM_052944	-		24895407	1	no_errors	ENST00000347898	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	24895407	C	T	24895407	4	4	128	1	0	0	0	0	0	1	0	0	14671	711	25	2	645	2	SLC5A11	16	24895407	Nonsense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2558133	24895407	65459346	263	9776											
CDIPT	10423	genome.wustl.edu	37	chr16	29872575	29872575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcatggccccaaaccGggttcctggaagattaggtg	13	11	0	1	rs150782987		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:29872575G>A	ENST00000219789.6	-	3	1062	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	CDIPT_ENST00000561555.1_Missense_Mutation_p.R86W|CDIPT_ENST00000563415.1_Missense_Mutation_p.R62W|CDIPT_ENST00000570016.1_Missense_Mutation_p.R62W|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000567459.1_5'Flank|CDIPT_ENST00000569956.1_Missense_Mutation_p.R62W|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT_ENST00000566113.1_Missense_Mutation_p.R17W	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	62					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)			endometrium(1)|lung(3)	4						GCCCCAAACCGGGTTCCTGGA	0.567																																																	0								ENSG00000103502	G	TRP/ARG	0,4394		0,0,2197	67	58	61		184	4.8	1	16	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDIPT	NM_006319.3	101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	62/214	29872575	1,12993	2197	4300	6497	CDIPT	SO:0001583	missense	0			-	HGNC	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"phosphatidylinositol synthase"	605893	"CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.184C>T	16.37:g.29872575G>A	ENSP00000219789:p.Arg62Trp	Somatic	0	79	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP							pfam_CDP-OH_P_trans,pirsf_CDP_diag_ino_3_P_euk	p.R62W	ENST00000219789.6	37	c.184	CCDS10657.1	16	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256954	0.80246	0.0	1.16E-4	ENSG00000103502	ENST00000219789;ENST00000403894	T	0.45276	0.9	5.78	4.79	0.61399	.	0.115651	0.64402	D	0.000017	T	0.67411	0.2890	M	0.88512	2.96	0.48571	D	0.999673	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.75020	0.975;0.985;0.967	T	0.72839	-0.4171	10	0.87932	D	0	-3.6843	12.0649	0.53581	0.0:0.0:0.705:0.295	.	17;62;86	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	W	62;115	ENSP00000219789:R62W	ENSP00000219789:R62W	R	-	1	2	CDIPT	29780076	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.615000	0.61190	2.749000	0.94314	0.655000	0.94253	CGG	-	pfam_CDP-OH_P_trans,pirsf_CDP_diag_ino_3_P_euk		0.567	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDIPT	protein_coding	OTTHUMT00000255147.3	G	NM_006319	rs150782987		29872575	-1	no_errors	ENST00000219789	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29872575	G	A	29872575	3	1	128	1	0	0	0	0	1	0	0	0	3125	1115	39	1	473	1	CDIPT	16	29872575	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4977168	29872575	60482178	264	9777											
MAPK3	5595	genome.wustl.edu	37	chr16	30128165	30128165	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgggggatgcctacgtgCccccctgctcccctgccccc	11	20	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:30128165C>T	ENST00000263025.4	-	7	1102				MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000403394.1_Missense_Mutation_p.G356D|MAPK3_ENST00000484663.1_Intron|GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000395199.3_Missense_Mutation_p.G356D|MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000322266.5_Intron	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|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 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 exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|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)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	TGCCTACGTGCCCCCCTGCTC	0.667																																																	0								ENSG00000102882						32	36	34					16																	30128165		2197	4296	6493	MAPK3	SO:0001627	intron_variant	0			-	HGNC	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1017+49G>A	16.37:g.30128165C>T		Somatic	0	50	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.G356D	ENST00000263025.4	37	c.1067	CCDS10672.1	16	.	.	.	.	.	.	.	.	.	.	C	3.750	-0.051802	0.07362	.	.	ENSG00000102882	ENST00000403394;ENST00000395199	T;T	0.77620	-1.11;-1.11	5.59	-2.31	0.06765	.	.	.	.	.	T	0.62744	0.2453	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49447	-0.8939	8	0.44086	T	0.13	.	6.6362	0.22885	0.1134:0.4869:0.0:0.3997	.	356	P27361-3	.	D	356	ENSP00000384895:G356D;ENSP00000378625:G356D	ENSP00000378625:G356D	G	-	2	0	MAPK3	30035666	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.226000	0.17776	-0.373000	0.07979	-0.152000	0.13540	GGC	-	NULL		0.667	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	protein_coding	OTTHUMT00000255196.2	C		-		30128165	-1	no_errors	ENST00000403394	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30128165	C	T	30128165	1	4	128	0	1	0	0	0	0	0	0	0	9281	739	26	2		2	MAPK3	16	30128165	Intron	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	255590	30128165	60226588	265	9778											
ZNF629	23361	genome.wustl.edu	37	chr16	30795100	30795100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcgtgaagctcttgccGcactcggagcaggtgttggg	15	11	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:30795100G>A	ENST00000262525.4	-	3	756	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	183					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(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCTTGCCGCACTCGGAGC	0.647																																																	0								ENSG00000102870						41	43	42					16																	30795100		2197	4300	6497	ZNF629	SO:0001819	synonymous_variant	0			-	HGNC	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.549C>T	16.37:g.30795100G>A		Somatic	0	35	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q15938	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C183	ENST00000262525.4	37	c.549	CCDS45463.1	16																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	protein_coding	OTTHUMT00000434291.1	G	NM_015309	-		30795100	-1	no_errors	ENST00000262525	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30795100	G	A	30795100	2	1	128	1	0	0	0	0	0	0	0	1	18060	1079	38	1		1	ZNF629	16	30795100	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	666935	30795100	59559653	266	9779											
ITGAD	3681	genome.wustl.edu	37	chr16	31419212	31419212	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatccagaagcagctGcaggagaagatctatgcagt	13	9	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:31419212G>T	ENST00000389202.2	+	9	1033	c.984G>T	c.(982-984)ctG>ctT	p.L328L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	328	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAAGCAGCTGCAGGAGAAGA	0.562																																																	0								ENSG00000156886						58	57	57					16																	31419212		2197	4300	6497	ITGAD	SO:0001819	synonymous_variant	0			-	HGNC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.984G>T	16.37:g.31419212G>T		Somatic	0	31	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q15575|Q15576	Silent	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L328	ENST00000389202.2	37	c.984	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	g	9.308	1.054742	0.19907	.	.	ENSG00000156886	ENST00000316569	.	.	.	5.01	-2.9	0.05648	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	B	0.17038	0.02	B	0.12156	0.007	T	0.16129	-1.0413	7	0.87932	D	0	.	6.1383	0.20245	0.1488:0.0:0.3687:0.4825	.	361	B7Z6V7	.	S	225	.	ENSP00000323325:A225S	A	+	1	0	ITGAD	31326713	0.976000	0.34144	0.848000	0.33437	0.951000	0.60555	0.083000	0.14871	-0.411000	0.07530	-0.220000	0.12472	GCA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.562	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	G	NM_005353	-		31419212	1	no_errors	ENST00000389202	ensembl	human	known	74_37	silent	SNP	0.993	T	T	31419212	G	T	31419212	2	4	128	1	0	0	0	0	0	0	0	1	7886	1306	46	3		3	ITGAD	16	31419212	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	624112	31419212	58935541	267	9780											
SLC5A2	6524	genome.wustl.edu	37	chr16	31501714	31501714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggggtgggcagtcctcCgccccttacccaggaggagg	17	12	0	0	rs535031004		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:31501714C>T	ENST00000330498.3	+	14	1896	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	626					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGCAGTCCTCCGCCCCTTACC	0.662																																																	0								ENSG00000140675						25	28	27					16																	31501714		2197	4300	6497	SLC5A2	SO:0001583	missense	0			-	HGNC		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1877C>T	16.37:g.31501714C>T	ENSP00000327943:p.Pro626Leu	Somatic	0	37	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	A2RRD2	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P626L	ENST00000330498.3	37	c.1877	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751865	0.15778	.	.	ENSG00000140675	ENST00000330498	D	0.92299	-3.01	5.39	2.36	0.29203	.	0.476135	0.21073	N	0.080628	D	0.88695	0.6506	M	0.70275	2.135	0.09310	N	1	B	0.20261	0.043	B	0.14023	0.01	T	0.79911	-0.1603	10	0.52906	T	0.07	.	4.9926	0.14222	0.1671:0.6571:0.0:0.1758	.	626	P31639	SC5A2_HUMAN	L	626	ENSP00000327943:P626L	ENSP00000327943:P626L	P	+	2	0	SLC5A2	31409215	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.513000	0.22770	0.254000	0.21573	0.561000	0.74099	CCG	-	NULL		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	protein_coding	OTTHUMT00000255627.2	C		-		31501714	1	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	SNP	0.005	T	T	31501714	C	T	31501714	3	4	128	1	0	0	0	0	1	0	0	0	14673	652	23	1	1931	1	SLC5A2	16	31501714	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	82502	31501714	58853039	268	9781											
NLRC5	84166	genome.wustl.edu	37	chr16	57059999	57059999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaatcacttcttcagcGcccagccatcgcgggagggg	13	12	3	1	rs200058658	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr16:57059999G>A	ENST00000262510.6	+	6	1369	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A382T|NLRC5_ENST00000436936.1_Missense_Mutation_p.A382T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A382T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	382	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTTCTTCAGCGCCCAGCCATC	0.612													G|||	4	0.000798722	8e-04	0.0014	5008	,	,		20052	0		0.001	False		,,,				2504	0.001																0								ENSG00000140853	G	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	95	104	101		1144	1.7	0	16		101	0,8600		0,0,4300	yes	missense	NLRC5	NM_032206.3	58	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	382/1867	57059999	1,12995	2198	4300	6498	NLRC5	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1144G>A	16.37:g.57059999G>A	ENSP00000262510:p.Ala382Thr	Somatic	0	35	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.A382T	ENST00000262510.6	37	c.1144	CCDS10773.1	16	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	0.072|0.072	-1.200493|-1.200493	0.01581|0.01581	2.27E-4|2.27E-4	0.0|0.0	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29|.	4.69|4.69	1.68|1.68	0.24146|0.24146	.|.	1.227190|.	0.06315|.	N|.	0.703447|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.15141|.	0.009;0.005;0.012;0.002|.	B;B;B;B|.	0.13407|.	0.004;0.004;0.005;0.009|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.52906|.	T|.	0.07|.	.|.	4.6739|4.6739	0.12703|0.12703	0.3478:0.1642:0.488:0.0|0.3478:0.1642:0.488:0.0	.|.	382;382;382;382|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	T|H	382|134	ENSP00000262510:A382T;ENSP00000308886:A382T;ENSP00000389739:A382T;ENSP00000441727:A382T|.	ENSP00000262510:A382T|.	A|R	+|+	1|2	0|0	NLRC5|NLRC5	55617500|55617500	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.012000|0.012000	0.07955|0.07955	0.153000|0.153000	0.16323|0.16323	0.217000|0.217000	0.20800|0.20800	-0.254000|-0.254000	0.11334|0.11334	GCC|CGC	-	NULL		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	protein_coding	OTTHUMT00000257346.1	G	NM_032206	rs200058658		57059999	1	no_errors	ENST00000262510	ensembl	human	known	74_37	missense	SNP	0.001	A	A	57059999	G	A	57059999	3	1	128	1	0	0	0	0	1	0	0	0	10472	1087	38	1	1158	1	NLRC5	16	57059999	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	25558285	57059999	33294754	269	9782											
SGSM2	9905	genome.wustl.edu	37	chr17	2268616	2268616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttccggatcatctacccCggccacaggcacgagcacag	11	15	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:2268616C>T	ENST00000426855.2	+	11	1444	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	SGSM2_ENST00000574563.1_Silent_p.P423P|SGSM2_ENST00000268989.3_Silent_p.P423P	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	423					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCATCTACCCCGGCCACAGGC	0.642																																																	0								ENSG00000141258						40	33	36					17																	2268616		2193	4298	6491	SGSM2	SO:0001819	synonymous_variant	0			-	HGNC	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1269C>T	17.37:g.2268616C>T		Somatic	0	57	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	29	39.58	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP							pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.P423	ENST00000426855.2	37	c.1269	CCDS45570.1	17																																																																																			-	NULL		0.642	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	protein_coding	OTTHUMT00000438186.1	C	NM_014853	-		2268616	1	no_errors	ENST00000268989	ensembl	human	known	74_37	silent	SNP	0.021	T	T	2268616	C	T	2268616	2	4	128	1	0	0	0	0	0	0	0	1	14231	639	23	1		1	SGSM2	17	2268616	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		2268616	78926594	270	9783											
SPATA22	84690	genome.wustl.edu	37	chr17	3366054	3366054	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggattcacagcttcccaGgcccaatctcaaaagatata	6	12	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:3366054G>T	ENST00000573128.1	-	4	663	c.180C>A	c.(178-180)gcC>gcA	p.A60A	SPATA22_ENST00000355380.4_Silent_p.A17A|SPATA22_ENST00000572969.1_Silent_p.A60A|SPATA22_ENST00000541913.1_Silent_p.A44A|SPATA22_ENST00000397168.3_Silent_p.A60A|SPATA22_ENST00000575375.1_Silent_p.A60A|SPATA22_ENST00000268981.5_Silent_p.A60A			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	60					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CAGCTTCCCAGGCCCAATCTC	0.343																																																	0								ENSG00000141255						94	99	97					17																	3366054		2203	4300	6503	SPATA22	SO:0001819	synonymous_variant	0			-	HGNC	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.180C>A	17.37:g.3366054G>T		Somatic	0	66	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	47	35.62	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Silent	SNP							NULL	p.A60	ENST00000573128.1	37	c.180	CCDS11027.1	17																																																																																			-	NULL		0.343	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATA22	protein_coding	OTTHUMT00000438067.2	G	NM_032598	-		3366054	-1	no_errors	ENST00000397168	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3366054	G	T	3366054	2	4	128	1	0	0	0	0	0	0	0	1	15015	987	35	3		3	SPATA22	17	3366054	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1097438	3366054	77829156	271	9784											
BCL6B	255877	genome.wustl.edu	37	chr17	6930824	6930824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgtcctcccacagtgCgacccctgtggcctgcattt	10	15	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:6930824C>T	ENST00000293805.5	+	9	1418	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	442					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						TCCCACAGTGCGACCCCTGTG	0.597																																																	0								ENSG00000161940						38	45	42					17																	6930824		2073	4207	6280	BCL6B	SO:0001819	synonymous_variant	0			-	HGNC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1326C>T	17.37:g.6930824C>T		Somatic	0	69	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	Q6PCB4	Silent	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C442	ENST00000293805.5	37	c.1326	CCDS42248.1	17																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.597	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6B	protein_coding	OTTHUMT00000439455.2	C	NM_181844	-		6930824	1	no_errors	ENST00000293805	ensembl	human	known	74_37	silent	SNP	0.983	T	T	6930824	C	T	6930824	2	4	128	1	0	0	0	0	0	0	0	1	1377	776	27	1		1	BCL6B	17	6930824	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3564770	6930824	74264386	272	9785											
TP53	7157	genome.wustl.edu	37	chr17	7577525	7577527	+	In_Frame_Del	DEL	GAG	GAG	-													tcttccagtgtgatgatggtGaggatgggcctccggttcat					rs121912653		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:7577525_7577527delGAG	ENST00000269305.4	-	7	943_945	c.754_756delCTC	c.(754-756)ctcdel	p.L252del	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Del_p.L252del|TP53_ENST00000445888.2_In_Frame_Del_p.L252del|TP53_ENST00000359597.4_In_Frame_Del_p.L252del|TP53_ENST00000420246.2_In_Frame_Del_p.L252del|TP53_ENST00000413465.2_In_Frame_Del_p.L252del	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	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (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.L252P(10)|p.L252F(9)|p.0?(8)|p.L252fs*93(5)|p.L252del(5)|p.L252_I254delLTI(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.L252L(3)|p.T253_I255del(2)|p.P250_L252delPIL(2)|p.L252H(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.T253fs*92(1)|p.?(1)|p.I251_L252insX(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.T253fs*11(1)|p.R249_T256delRPILTIIT(1)|p.L252fs*92(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)	TGATGATGGTGAGGATGGGCCTC	0.591		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Deletion - In frame(23)|Substitution - Missense(21)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(3)|Substitution - coding silent(3)|Insertion - In frame(1)|Unknown(1)	lung(11)|large_intestine(8)|stomach(8)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(4)|central_nervous_system(3)|liver(3)|peritoneum(2)|endometrium(2)|breast(2)|soft_tissue(1)|biliary_tract(1)|urinary_tract(1)|oesophagus(1)|ovary(1)	GRCh37	CM900212	TP53	M	rs121912653	ENSG00000141510																																			TP53	SO:0001651	inframe_deletion	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;		HGNC	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.754_756delCTC	17.37:g.7577525_7577527delGAG	ENSP00000269305:p.Leu252del	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	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	In_Frame_Del	DEL							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L252in_frame_del	ENST00000269305.4	37	c.756_754	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.591	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	GAG	NM_000546			7577527	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	7577527	GAG	-	7577525	7	5	128	1	0	1	0	1	0	0	0	0	16388	1277	45	0	534	0	TP53	17	7577525	In_Frame_Del	DEL	GAG	TCGA-DX-AB32-01A-11D-A417-09	646701	7577525	73617685	273	9786											
CCDC42	146849	genome.wustl.edu	37	chr17	8638826	8638826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgccagccgggccttgGcgcgctcaatcttctcctgg	13	16	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:8638826G>A	ENST00000293845.3	-	5	822	c.596C>T	c.(595-597)gCc>gTc	p.A199V	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	199										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CCGGGCCTTGGCGCGCTCAAT	0.592																																																	0								ENSG00000161973						61	56	58					17																	8638826		2203	4300	6503	CCDC42	SO:0001583	missense	0			-	HGNC	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.596C>T	17.37:g.8638826G>A	ENSP00000293845:p.Ala199Val	Somatic	0	23	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	Q8N6Q0	Missense_Mutation	SNP							NULL	p.A199V	ENST00000293845.3	37	c.596	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321186	0.23994	.	.	ENSG00000161973	ENST00000293845	T	0.23950	1.88	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000014	T	0.29817	0.0745	L	0.31752	0.955	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	T	0.00498	-1.1704	10	0.29301	T	0.29	-16.0321	13.3047	0.60345	0.0:0.0:0.8417:0.1583	.	199	Q96M95	CCD42_HUMAN	V	199	ENSP00000293845:A199V	ENSP00000293845:A199V	A	-	2	0	CCDC42	8579551	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	2.267000	0.43329	2.868000	0.98415	0.557000	0.71058	GCC	-	NULL		0.592	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	protein_coding	OTTHUMT00000442491.1	G	NM_144681	-		8638826	-1	no_errors	ENST00000293845	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8638826	G	A	8638826	3	1	128	1	0	0	0	0	1	0	0	0	2816	1203	42	2	366	2	CCDC42	17	8638826	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1061301	8638826	72556384	274	9787											
BLMH	642	genome.wustl.edu	37	chr17	28601155	28601155	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataatttttatctttgtctcGatattcccaggtgaatgtct	6	7	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:28601155G>A	ENST00000261714.6	-	7	880	c.706C>T	c.(706-708)Cga>Tga	p.R236*	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Nonsense_Mutation_p.R149*	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	236					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TCTTTGTCTCGATATTCCCAG	0.448																																					Pancreas(127;628 1772 12912 33293 36203)												0								ENSG00000108578						85	82	83					17																	28601155		2203	4300	6503	BLMH	SO:0001587	stop_gained	0			-	HGNC	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.706C>T	17.37:g.28601155G>A	ENSP00000261714:p.Arg236*	Somatic	0	156	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	70	35.19	B2R796|Q53F86|Q9UER9	Nonsense_Mutation	SNP							pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.R236*	ENST00000261714.6	37	c.706	CCDS32604.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.553903	0.96501	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	.	.	.	5.91	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7216	15.0025	0.71486	0.0:0.0:0.8572:0.1428	.	.	.	.	X	236;149	.	ENSP00000261714:R236X	R	-	1	2	BLMH	25625281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.963000	0.29293	2.802000	0.96397	0.655000	0.94253	CGA	-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B		0.448	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	protein_coding	OTTHUMT00000447940.1	G	NM_000386	-		28601155	-1	no_errors	ENST00000261714	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	28601155	G	A	28601155	4	1	128	1	0	0	0	0	0	1	0	0	1446	1066	37	1	685	1	BLMH	17	28601155	Nonsense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	19962329	28601155	52594055	275	9788											
ATAD5	79915	genome.wustl.edu	37	chr17	29182214	29182214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcaatgtaaagcaaagcGtgacttcctaatgagtggtt	10	6	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:29182214G>A	ENST00000321990.4	+	7	2882	c.2504G>A	c.(2503-2505)cGt>cAt	p.R835H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	835					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGCAAAGCGTGACTTCCTA	0.368																																																	0								ENSG00000176208						75	68	71					17																	29182214		2203	4300	6503	ATAD5	SO:0001583	missense	0			-	HGNC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2504G>A	17.37:g.29182214G>A	ENSP00000313171:p.Arg835His	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP							pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R835H	ENST00000321990.4	37	c.2504	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909070	0.33721	.	.	ENSG00000176208	ENST00000321990	D	0.89050	-2.46	5.6	4.64	0.57946	.	0.106821	0.64402	D	0.000009	D	0.93552	0.7942	M	0.72894	2.215	0.46725	D	0.999176	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.93911	0.7197	10	0.62326	D	0.03	.	14.4754	0.67541	0.0709:0.0:0.9291:0.0	.	835;835	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	H	835	ENSP00000313171:R835H	ENSP00000313171:R835H	R	+	2	0	ATAD5	26206340	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.076000	0.76806	1.367000	0.46095	-0.346000	0.07831	CGT	-	NULL		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	protein_coding	OTTHUMT00000256206.2	G	NM_024857	-		29182214	1	no_errors	ENST00000321990	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29182214	G	A	29182214	3	1	128	1	0	0	0	0	1	0	0	0	1076	1145	40	1	2530	1	ATAD5	17	29182214	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	581059	29182214	52012996	276	9789											
NGFR	4804	genome.wustl.edu	37	chr17	47590304	47590304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctcctggccgccctgcGccgcatccagcgagccgacc	11	22	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:47590304G>A	ENST00000172229.3	+	6	1342	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.R312H	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	406	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCGCCCTGCGCCGCATCCAG	0.692																																																	0								ENSG00000064300																																			NGFR	SO:0001583	missense	0			-	HGNC	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1217G>A	17.37:g.47590304G>A	ENSP00000172229:p.Arg406His	Somatic	0	52	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.33	B2R961|B4E096	Missense_Mutation	SNP							pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16	p.R406H	ENST00000172229.3	37	c.1217	CCDS11549.1	17	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305889	0.81247	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.86627	-2.15;-2.15	4.55	2.52	0.30459	Death (3);DEATH-like (2);	0.580848	0.16229	N	0.223695	D	0.89691	0.6788	L	0.52759	1.655	0.40555	D	0.981154	D	0.89917	1.0	D	0.77004	0.989	D	0.87399	0.2368	10	0.42905	T	0.14	-28.8598	9.3431	0.38091	0.1823:0.0:0.8177:0.0	.	406	P08138	TNR16_HUMAN	H	406;312	ENSP00000172229:R406H;ENSP00000421731:R312H	ENSP00000172229:R406H	R	+	2	0	NGFR	44945303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.627000	0.61276	1.029000	0.39812	0.561000	0.74099	CGC	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain		0.692	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	protein_coding	OTTHUMT00000365150.1	G		-		47590304	1	no_errors	ENST00000172229	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47590304	G	A	47590304	3	1	128	1	0	0	0	0	1	0	0	0	10398	1087	38	1	1239	1	NGFR	17	47590304	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	18408090	47590304	33604906	277	9790											
COL1A1	1277	genome.wustl.edu	37	chr17	48266268	48266268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggactgctcacctcaCgtccagattcaccagggggt	13	13	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:48266268C>T	ENST00000225964.5	-	41	3159	c.3041G>A	c.(3040-3042)cGt>cAt	p.R1014H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1014	Triple-helical region.		R -> C (in CAFFD). {ECO:0000269|PubMed:15864348}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCTCACCTCACGTCCAGATTC	0.622			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0								ENSG00000108821						47	52	50					17																	48266268		2203	4300	6503	COL1A1	SO:0001583	missense	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3041G>A	17.37:g.48266268C>T	ENSP00000225964:p.Arg1014His	Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R1014H	ENST00000225964.5	37	c.3041	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975001	0.74360	.	.	ENSG00000108821	ENST00000225964	D	0.93366	-3.21	4.02	4.02	0.46733	.	0.322809	0.29684	N	0.011461	D	0.94837	0.8332	L	0.45422	1.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.95224	0.8336	10	0.62326	D	0.03	.	15.1435	0.72630	0.0:1.0:0.0:0.0	.	1014	P02452	CO1A1_HUMAN	H	1014	ENSP00000225964:R1014H	ENSP00000225964:R1014H	R	-	2	0	COL1A1	45621267	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.850000	0.69473	2.103000	0.63969	0.298000	0.19748	CGT	-	NULL		0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	C		-		48266268	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48266268	C	T	48266268	3	4	128	1	0	0	0	0	1	0	0	0	3679	536	19	1	1397	1	COL1A1	17	48266268	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	675964	48266268	32928942	278	9791											
DGKE	8526	genome.wustl.edu	37	chr17	54939227	54939227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatcggatactggggcGgtggctgcagactatgggaa	16	7	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:54939227G>A	ENST00000284061.3	+	10	1540	c.1360G>A	c.(1360-1362)Ggt>Agt	p.G454S		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	454					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATACTGGGGCGGTGGCTGCAG	0.433																																																	0								ENSG00000153933						164	166	165					17																	54939227		2203	4300	6503	DGKE	SO:0001583	missense	0			-	HGNC	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1360G>A	17.37:g.54939227G>A	ENSP00000284061:p.Gly454Ser	Somatic	0	83	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	Q8TBM4|Q9UKQ3	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.G454S	ENST00000284061.3	37	c.1360	CCDS11590.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.627722	0.96671	.	.	ENSG00000153933	ENST00000284061	T	0.34859	1.34	5.66	5.66	0.87406	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.45308	-0.9270	10	0.34782	T	0.22	.	19.8076	0.96536	0.0:0.0:1.0:0.0	.	454;454	A1L4Q0;P52429	.;DGKE_HUMAN	S	454	ENSP00000284061:G454S	ENSP00000284061:G454S	G	+	1	0	DGKE	52294226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.325000	0.96381	2.661000	0.90470	0.650000	0.86243	GGT	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.433	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKE	protein_coding	OTTHUMT00000440601.1	G	NM_003647	-		54939227	1	no_errors	ENST00000284061	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54939227	G	A	54939227	3	1	128	1	0	0	0	0	1	0	0	0	4470	1116	39	1	1394	1	DGKE	17	54939227	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	6672959	54939227	26255983	279	9792											
KCNH6	81033	genome.wustl.edu	37	chr17	61620974	61620974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccccccgacaggctcCtggcagccaagaccaccaag	8	19	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:61620974C>A	ENST00000583023.1	+	10	2197	c.2186C>A	c.(2185-2187)cCt>cAt	p.P729H	KCNH6_ENST00000314672.5_Missense_Mutation_p.P729H|KCNH6_ENST00000581784.1_Missense_Mutation_p.P676H|KCNH6_ENST00000456941.2_Missense_Mutation_p.P676H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	729					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)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CGACAGGCTCCTGGCAGCCAA	0.597																																																	0								ENSG00000173826						62	66	65					17																	61620974		2203	4300	6503	KCNH6	SO:0001583	missense	0			-	HGNC	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2186C>A	17.37:g.61620974C>A	ENSP00000463533:p.Pro729His	Somatic	0	76	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	73	8.75	Q9BRD7	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.P729H	ENST00000583023.1	37	c.2186	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449041	0.43531	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99252	-5.1;-5.63	4.92	2.64	0.31445	.	0.638140	0.14362	U	0.324380	D	0.97838	0.9290	L	0.40543	1.245	0.33840	D	0.631324	B;B;P;B	0.35982	0.26;0.412;0.531;0.001	B;B;P;B	0.45474	0.289;0.219;0.482;0.002	D	0.99942	1.1416	10	0.52906	T	0.07	.	5.2281	0.15406	0.2019:0.6748:0.0:0.1233	.	606;729;676;729	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	H	729;676	ENSP00000318212:P729H;ENSP00000396900:P676H	ENSP00000318212:P729H	P	+	2	0	KCNH6	58974706	0.001000	0.12720	0.963000	0.40424	0.486000	0.33341	1.298000	0.33412	1.134000	0.42165	0.655000	0.94253	CCT	-	NULL		0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	protein_coding	OTTHUMT00000443853.1	C	NM_030779	-		61620974	1	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	SNP	0.651	A	A	61620974	C	A	61620974	3	1	128	1	0	0	0	0	1	0	0	0	8038	681	24	3	2224	3	KCNH6	17	61620974	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	6681747	61620974	19574236	280	9793											
HELZ	9931	genome.wustl.edu	37	chr17	65074649	65074649	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttgaaggaactggacacctCgaggttctccgacttcagtt	11	10	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:65074649C>G	ENST00000358691.5	-	33	5714	c.5548G>C	c.(5548-5550)Gag>Cag	p.E1850Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E1851Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1850						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)					CTGGACACCTCGAGGTTCTCC	0.517																																																	0								ENSG00000198265						171	171	171					17																	65074649		2021	4196	6217	HELZ	SO:0001583	missense	0			-	HGNC	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.5548G>C	17.37:g.65074649C>G	ENSP00000351524:p.Glu1850Gln	Somatic	0	42	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	I6L9H4	Missense_Mutation	SNP							pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH	p.E1850Q	ENST00000358691.5	37	c.5548	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227521	0.22542	.	.	ENSG00000198265	ENST00000358691	D	0.82167	-1.58	5.46	4.47	0.54385	.	0.220415	0.47455	D	0.000222	T	0.60945	0.2308	N	0.02539	-0.55	0.25853	N	0.983916	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.46665	-0.9175	10	0.19147	T	0.46	-11.4648	12.6609	0.56813	0.0:0.5876:0.4124:0.0	.	1851;1850	B7ZLW2;P42694	.;HELZ_HUMAN	Q	1850	ENSP00000351524:E1850Q	ENSP00000351524:E1850Q	E	-	1	0	HELZ	62505111	0.998000	0.40836	0.981000	0.43875	0.982000	0.71751	3.146000	0.50631	2.544000	0.85801	0.655000	0.94253	GAG	-	NULL		0.517	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	protein_coding	OTTHUMT00000447068.1	C	NM_014877	-		65074649	-1	no_errors	ENST00000358691	ensembl	human	known	74_37	missense	SNP	0.998	G	G	65074649	C	G	65074649	3	3	128	1	0	0	0	0	1	0	0	0	7051	893	31	4	284	4	HELZ	17	65074649	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3453675	65074649	16120561	281	9794											
TSEN54	283989	genome.wustl.edu	37	chr17	73518349	73518349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaggagccagcgccGggcccctcacctgtggggcc	17	15	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:73518349G>A	ENST00000333213.6	+	8	1223	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	396					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCAGCGCCGGGCCCCTCAC	0.701																																																	0								ENSG00000182173						4	4	4					17																	73518349		1848	3677	5525	TSEN54	SO:0001583	missense	0			-	HGNC	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1187G>A	17.37:g.73518349G>A	ENSP00000327487:p.Arg396Gln	Somatic	0	19	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP							NULL	p.R396Q	ENST00000333213.6	37	c.1187	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271176	0.10349	.	.	ENSG00000182173	ENST00000333213	T	0.63744	-0.06	5.47	-1.44	0.08856	.	0.503387	0.22344	N	0.061296	T	0.38188	0.1031	L	0.54323	1.7	0.09310	N	1	P	0.41710	0.76	B	0.27076	0.076	T	0.31138	-0.9954	10	0.30078	T	0.28	-0.1438	0.7064	0.00917	0.2446:0.2062:0.3381:0.211	.	396	Q7Z6J9	SEN54_HUMAN	Q	396	ENSP00000327487:R396Q	ENSP00000327487:R396Q	R	+	2	0	TSEN54	71029944	0.010000	0.17322	0.004000	0.12327	0.002000	0.02628	1.694000	0.37752	-0.217000	0.10033	-0.899000	0.02877	CGG	-	NULL		0.701	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	protein_coding	OTTHUMT00000447618.1	G	NM_207346	-		73518349	1	no_errors	ENST00000333213	ensembl	human	known	74_37	missense	SNP	0.000	A	A	73518349	G	A	73518349	3	1	128	1	0	0	0	0	1	0	0	0	16621	1116	39	1	1217	1	TSEN54	17	73518349	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	8443700	73518349	7676861	282	9795											
SRP68	6730	genome.wustl.edu	37	chr17	74053539	74053539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaaatgcgcactttgTcaatcttcactggaaccgtt	7	9	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:74053539T>A	ENST00000307877.2	-	8	1084	c.923A>T	c.(922-924)gAc>gTc	p.D308V	SRP68_ENST00000539137.1_Missense_Mutation_p.D270V|SRP68_ENST00000355113.5_Missense_Mutation_p.D207V	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	308					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCGCACTTTGTCAATCTTCAC	0.453																																																	0								ENSG00000167881						220	178	192					17																	74053539		2203	4300	6503	SRP68	SO:0001583	missense	0			-	HGNC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.923A>T	17.37:g.74053539T>A	ENSP00000312066:p.Asp308Val	Somatic	0	103	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	98	28.78	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP							NULL	p.D308V	ENST00000307877.2	37	c.923	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750295	0.89753	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	L	0.45581	1.43	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.57776	0.827;0.827	T	0.63247	-0.6680	9	0.33940	T	0.23	-30.8537	15.8426	0.78861	0.0:0.0:0.0:1.0	.	270;308	G3V1U4;Q9UHB9	.;SRP68_HUMAN	V	48;270;308;308;277;207	.	ENSP00000307756:D277V	D	-	2	0	SRP68	71565134	1.000000	0.71417	0.994000	0.49952	0.794000	0.44872	7.641000	0.83368	2.203000	0.70933	0.533000	0.62120	GAC	-	NULL		0.453	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	protein_coding	OTTHUMT00000449487.1	T	NM_014230	-		74053539	-1	no_errors	ENST00000307877	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74053539	T	A	74053539	3	1	128	1	0	0	0	0	1	0	0	0	15163	1667	58	5	996	5	SRP68	17	74053539	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	535190	74053539	7141671	283	9796											
USP36	57602	genome.wustl.edu	37	chr17	76818061	76818061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatttgatggaccaaggTagtagcctgcgtttgacgat	11	6	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:76818061T>C	ENST00000542802.3	-	7	1158	c.715A>G	c.(715-717)Acc>Gcc	p.T239A	USP36_ENST00000449938.2_5'UTR|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Missense_Mutation_p.T239A			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	239	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)			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)			TGGACCAAGGTAGTAGCCTGC	0.517																																																	0								ENSG00000055483						153	127	136					17																	76818061		2203	4300	6503	USP36	SO:0001583	missense	0			-	HGNC	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.715A>G	17.37:g.76818061T>C	ENSP00000441214:p.Thr239Ala	Somatic	0	80	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	56	28.21	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.T239A	ENST00000542802.3	37	c.715	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107291	0.77096	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.30182	1.54;1.54	5.24	5.24	0.73138	.	0.048347	0.85682	D	0.000000	T	0.58352	0.2116	M	0.88979	2.995	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.65541	-0.6143	10	0.72032	D	0.01	-29.6182	10.1194	0.42612	0.1493:0.0:0.0:0.8506	.	239	Q9P275-2	.	A	239	ENSP00000310590:T239A;ENSP00000441214:T239A	ENSP00000310590:T239A	T	-	1	0	USP36	74329656	1.000000	0.71417	0.044000	0.18714	0.950000	0.60333	5.455000	0.66658	1.983000	0.57843	0.459000	0.35465	ACC	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.517	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	protein_coding	OTTHUMT00000437472.3	T	NM_025090	-		76818061	-1	no_errors	ENST00000312010	ensembl	human	known	74_37	missense	SNP	0.984	C	C	76818061	T	C	76818061	3	2	128	1	0	0	0	0	1	0	0	0	17074	1638	57	5	2712	5	USP36	17	76818061	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	2764522	76818061	4377149	284	9797											
CARD14	79092	genome.wustl.edu	37	chr17	78172401	78172401	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtgatggtgagccgtgCgaggcccctcctgtcccccg	14	14	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:78172401C>T	ENST00000573882.1	+	15	2387				RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000570421.1_Intron|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Intron|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000570309.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGAGCCGTGCGAGGCCCCTC	0.687																																																	0								ENSG00000141527						30	35	33					17																	78172401		2203	4299	6502	CARD14	SO:0001627	intron_variant	0			-	HGNC	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1851+11C>T	17.37:g.78172401C>T		Somatic	0	67	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	29.69	B8QQJ3|Q9BVB5	RNA	SNP							-	NULL	ENST00000573882.1	37	NULL	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	5.497	0.276784	0.10403	.	.	ENSG00000141527	ENST00000309710	.	.	.	3.08	-0.57	0.11753	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.27872	-1.0061	5	.	.	.	.	5.3164	0.15858	0.0:0.469:0.4027:0.1283	.	.	.	.	V	384	.	.	A	+	2	0	CARD14	75786996	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.680000	0.05197	-0.199000	0.10317	-0.339000	0.08088	GCG	-	-		0.687	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	protein_coding	OTTHUMT00000437507.1	C		-		78172401	1	no_errors	ENST00000573754	ensembl	human	known	74_37	rna	SNP	0.000	T	T	78172401	C	T	78172401	1	4	128	0	1	0	0	0	0	0	0	0	2648	768	27	1		1	CARD14	17	78172401	Intron	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1354340	78172401	3022809	285	9798											
P4HB	5034	genome.wustl.edu	37	chr17	79804473	79804473	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggatgcgctggttgtcGgtgtggtcgctgtcgatgaa	17	7	0	1	rs374783098		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr17:79804473G>T	ENST00000331483.4	-	7	1110	c.888C>A	c.(886-888)acC>acA	p.T296T	RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Silent_p.T252T|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	296					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCTGGTTGTCGGTGTGGTCGC	0.602																																					Colon(49;444 983 1296 7887 42561)												0								ENSG00000185624						85	68	74					17																	79804473		2203	4300	6503	P4HB	SO:0001819	synonymous_variant	0			-	HGNC	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.888C>A	17.37:g.79804473G>T		Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.T296	ENST00000331483.4	37	c.888	CCDS11787.1	17																																																																																			-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.602	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	protein_coding	OTTHUMT00000317250.3	G	NM_000918	-		79804473	-1	no_errors	ENST00000331483	ensembl	human	known	74_37	silent	SNP	0.001	T	T	79804473	G	T	79804473	2	4	128	1	0	0	0	0	0	0	0	1	11361	1103	39	3		3	P4HB	17	79804473	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1632072	79804473	1390737	286	9799											
POTEC	388468	genome.wustl.edu	37	chr18	14537923	14537923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggaatattttgatcagcGccatgttccagcaacattaa	7	9	2	1	rs373166777		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr18:14537923G>A	ENST00000358970.5	-	3	686	c.687C>T	c.(685-687)ggC>ggT	p.G229G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	229										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTTGATCAGCGCCATGTTCCA	0.378													.|||	1	0.000199681	0	0.0014	5008	,	,		18302	0		0	False		,,,				2504	0																0								ENSG00000183206	G		0,1384		0,0,692	445	346	376		687	0.2	0	18		376	1,3181		0,1,1590	no	coding-synonymous	POTEC	NM_001137671.1		0,1,2282	AA,AG,GG		0.0314,0.0,0.0219		229/543	14537923	1,4565	692	1591	2283	POTEC	SO:0001819	synonymous_variant	0			-	HGNC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.687C>T	18.37:g.14537923G>A		Somatic	0	353	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	162	28.32		Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G229	ENST00000358970.5	37	c.687	CCDS45835.1	18																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.378	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	protein_coding	OTTHUMT00000371179.1	G	XM_496269	-		14537923	-1	no_errors	ENST00000358970	ensembl	human	known	74_37	silent	SNP	0.939	A	A	14537923	G	A	14537923	2	1	128	1	0	0	0	0	0	0	0	1	12264	1074	38	1		1	POTEC	18	14537923	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		14537923	63539325	287	9800											
SALL3	27164	genome.wustl.edu	37	chr18	76757027	76757027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaggacctggcagctcGggcaatgaacgtcgacccca	12	14	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr18:76757027G>A	ENST00000537592.2	+	3	3608	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q	SALL3_ENST00000575389.2_Missense_Mutation_p.R1131Q|SALL3_ENST00000536229.3_Missense_Mutation_p.R998Q	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1203					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGGCAGCTCGGGCAATGAAC	0.582																																																	0								ENSG00000256463						76	73	74					18																	76757027		2203	4300	6503	SALL3	SO:0001583	missense	0			-	HGNC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3608G>A	18.37:g.76757027G>A	ENSP00000441823:p.Arg1203Gln	Somatic	0	64	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	65	14.47	Q9UGH1	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1203Q	ENST00000537592.2	37	c.3608	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399268	0.25291	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.53206	0.63	5.2	5.2	0.72013	.	0.000000	0.47455	D	0.000230	T	0.67392	0.2888	M	0.72576	2.205	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;D	0.63957	0.897;0.92	T	0.70008	-0.4990	10	0.56958	D	0.05	-17.689	18.7722	0.91896	0.0:0.0:1.0:0.0	.	863;1203	F5GXY4;Q9BXA9	.;SALL3_HUMAN	Q	1203;1131;863	ENSP00000441823:R1203Q	ENSP00000299466:R1203Q	R	+	2	0	SALL3	74858015	1.000000	0.71417	0.051000	0.19133	0.298000	0.27526	7.869000	0.87170	2.423000	0.82170	0.561000	0.74099	CGG	-	NULL		0.582	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	G	NM_171999	-		76757027	1	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	SNP	0.999	A	A	76757027	G	A	76757027	3	1	128	1	0	0	0	0	1	0	0	0	13820	1116	39	1	3618	1	SALL3	18	76757027	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	62219104	76757027	1320221	288	9801											
CTDP1	9150	genome.wustl.edu	37	chr18	77513722	77513722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggagtccagcaacgaggatGagggcagcagctccgaggcc	17	11	0	1	rs139811552		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr18:77513722G>A	ENST00000299543.7	+	13	2965	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	940					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CAACGAGGATGAGGGCAGCAG	0.632																																																	0								ENSG00000060069	G	LYS/GLU,LYS/GLU,	2,4404	2.1+/-5.4	0,2,2201	47	47	47		2461,2818,	5.5	1	18	dbSNP_134	47	0,8600		0,0,4300	no	missense,missense,utr-3	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	56,56,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,	821/843,940/962,	77513722	2,13004	2203	4300	6503	CTDP1	SO:0001583	missense	0			-	HGNC	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2818G>A	18.37:g.77513722G>A	ENSP00000299543:p.Glu940Lys	Somatic	0	59	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP							pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.E940K	ENST00000299543.7	37	c.2818	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.767413	0.96914	4.54E-4	0.0	ENSG00000060069	ENST00000299543	T	0.58506	0.33	5.48	5.48	0.80851	FCP1-like phosphatase, C-terminal (1);	0.307433	0.33938	N	0.004415	T	0.73385	0.3580	L	0.60455	1.87	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	T	0.74337	-0.3698	10	0.59425	D	0.04	-32.5404	19.3405	0.94339	0.0:0.0:1.0:0.0	.	940	Q9Y5B0	CTDP1_HUMAN	K	940	ENSP00000299543:E940K	ENSP00000299543:E940K	E	+	1	0	CTDP1	75614710	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.996000	0.88334	2.564000	0.86499	0.655000	0.94253	GAG	-	pfam_FCP1_C		0.632	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	protein_coding	OTTHUMT00000256432.1	G	NM_004715	rs139811552		77513722	1	no_errors	ENST00000299543	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77513722	G	A	77513722	3	1	128	1	0	0	0	0	1	0	0	0	4004	1291	45	2	2868	2	CTDP1	18	77513722	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	756695	77513722	563526	289	9802											
C19orf20	91978	genome.wustl.edu	37	chr19	507660	507660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaatgctacgtgcggccCtgctgaaggtgctggaggcg	17	10	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:507660C>T	ENST00000359315.5	+	1	362	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	AC005775.2_ENST00000592413.1_RNA	NM_033513.2	NP_277048.2	Q6ZTW0	TPGS1_HUMAN	tubulin polyglutamylase complex subunit 1	52					adult behavior (GO:0030534)|multicellular organismal development (GO:0007275)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|synaptic transmission (GO:0007268)|vesicle localization (GO:0051648)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)	tubulin-glutamic acid ligase activity (GO:0070740)										ACGTGCGGCCCTGCTGAAGGT	0.711																																																	0								ENSG00000141933						7	12	10					19																	507660		1899	4032	5931	TPGS1	SO:0001819	synonymous_variant	0			-	HGNC	BC009520	CCDS42454.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000141933	ENSG00000141933			25058	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 20"	C19orf20		11441184, 12972506	Standard	NM_033513		Approved	GTRGEO22, PGs1	uc002lou.3	Q6ZTW0		ENST00000359315.5:c.154C>T	19.37:g.507660C>T		Somatic	0	34	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q96GE2	Silent	SNP							superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.L52	ENST00000359315.5	37	c.154	CCDS42454.1	19																																																																																			-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b		0.711	TPGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPGS1	protein_coding	OTTHUMT00000451887.2	C	NM_033513	-		507660	1	no_errors	ENST00000359315	ensembl	human	known	74_37	silent	SNP	1.000	T	T	507660	C	T	507660	2	4	128	1	0	0	0	0	0	0	0	1	1914	680	24	2		2	C19orf20	19	507660	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		507660	58621323	290	9803											
MKNK2	2872	genome.wustl.edu	37	chr19	2041986	2041986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagatgctagcctcctcGctgaaggcctccactacctc	8	16	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:2041986G>A	ENST00000591601.1	-	10	833	c.798C>T	c.(796-798)agC>agT	p.S266S	MKNK2_ENST00000250896.3_Silent_p.S266S|MKNK2_ENST00000588014.1_Silent_p.S10S|MKNK2_ENST00000309340.7_Silent_p.S266S|MKNK2_ENST00000591142.1_Silent_p.S10S|MKNK2_ENST00000541165.1_Silent_p.S135S|MKNK2_ENST00000591588.1_Silent_p.S10S			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		TAGCCTCCTCGCTGAAGGCCT	0.662																																																	0								ENSG00000099875						29	23	25					19																	2041986		2170	4255	6425	MKNK2	SO:0001819	synonymous_variant	0			-	HGNC	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.798C>T	19.37:g.2041986G>A		Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	26.32	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S266	ENST00000591601.1	37	c.798	CCDS12080.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	protein_coding	OTTHUMT00000449312.1	G	NM_199054	-		2041986	-1	no_errors	ENST00000250896	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2041986	G	A	2041986	2	1	128	1	0	0	0	0	0	0	0	1	9607	1078	38	1		1	MKNK2	19	2041986	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1534326	2041986	57086997	291	9804											
UBXN6	80700	genome.wustl.edu	37	chr19	4446615	4446615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgcctgtccagcttggCgcgcacgggctccgcagcca	14	17	0	0	rs151060057		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:4446615C>T	ENST00000301281.6	-	8	926	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.A215T	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	268						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TCCAGCTTGGCGCGCACGGGC	0.657																																																	0								ENSG00000167671	C	THR/ALA,THR/ALA	0,4406		0,0,2203	36	38	38		643,802	3	0.7	19	dbSNP_134	38	1,8595		0,1,4297	yes	missense,missense	UBXN6	NM_001171091.1,NM_025241.2	58,58	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	215/389,268/442	4446615	1,13001	2203	4298	6501	UBXN6	SO:0001583	missense	0			-	HGNC	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.802G>A	19.37:g.4446615C>T	ENSP00000301281:p.Ala268Thr	Somatic	0	20	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP							pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.A268T	ENST00000301281.6	37	c.802	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	C	9.213	1.031473	0.19590	0.0	1.16E-4	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.31769	1.9;1.48	5.2	3.04	0.35103	.	0.348370	0.33023	N	0.005363	T	0.26304	0.0642	M	0.70595	2.14	0.42444	D	0.992725	B;D	0.53151	0.331;0.958	B;B	0.41571	0.065;0.36	T	0.18493	-1.0335	10	0.10636	T	0.68	-25.5001	7.0678	0.25161	0.0:0.6012:0.2436:0.1552	.	215;268	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	T	268;215	ENSP00000301281:A268T;ENSP00000378246:A215T	ENSP00000301281:A268T	A	-	1	0	UBXN6	4397615	1.000000	0.71417	0.712000	0.30502	0.048000	0.14542	4.365000	0.59486	1.196000	0.43129	0.491000	0.48974	GCC	-	NULL		0.657	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	protein_coding	OTTHUMT00000458447.3	C	NM_025241	rs151060057		4446615	-1	no_errors	ENST00000301281	ensembl	human	known	74_37	missense	SNP	0.952	T	T	4446615	C	T	4446615	3	4	128	1	0	0	0	0	1	0	0	0	16924	768	27	1	539	1	UBXN6	19	4446615	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2404629	4446615	54682368	292	9805											
SAFB2	9667	genome.wustl.edu	37	chr19	5616451	5616451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcccgtctctggaatcGtcttccaggccattatcttc	7	15	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:5616451G>A	ENST00000252542.4	-	3	585	c.321C>T	c.(319-321)gaC>gaT	p.D107D		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	107					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)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCTGGAATCGTCTTCCAGGC	0.453																																					Ovarian(127;888 1728 23957 44128 52668)												0								ENSG00000130254						221	188	199					19																	5616451		2203	4300	6503	SAFB2	SO:0001819	synonymous_variant	0			-	HGNC	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.321C>T	19.37:g.5616451G>A		Somatic	0	67	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	B4DKG3|Q8TB13	Silent	SNP							pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.D107	ENST00000252542.4	37	c.321	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.367487	0.01225	.	.	ENSG00000130254	ENST00000434962	.	.	.	5.38	-3.71	0.04424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1262	0.03739	0.2563:0.3695:0.1743:0.1999	.	.	.	.	.	-1	.	.	.	-	.	.	SAFB2	5567451	0.029000	0.19370	0.821000	0.32701	0.001000	0.01503	-1.104000	0.03326	-1.359000	0.02174	-2.737000	0.00128	.	-	NULL		0.453	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	protein_coding	OTTHUMT00000451016.1	G	NM_014649	-		5616451	-1	no_errors	ENST00000252542	ensembl	human	known	74_37	silent	SNP	0.410	A	A	5616451	G	A	5616451	2	1	128	1	0	0	0	0	0	0	0	1	13815	1136	40	1		1	SAFB2	19	5616451	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1169836	5616451	53512532	293	9806											
SH2D3A	10045	genome.wustl.edu	37	chr19	6760806	6760806	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaaccagagccggtaTgctggggaattgctcatcct	12	10	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:6760806T>A	ENST00000245908.6	-	3	531	c.262A>T	c.(262-264)Ata>Tta	p.I88L	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	88	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGAGCCGGTATGCTGGGGAAT	0.637																																																	0								ENSG00000125731						72	69	70					19																	6760806		2203	4300	6503	SH2D3A	SO:0001583	missense	0			-	HGNC	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.262A>T	19.37:g.6760806T>A	ENSP00000245908:p.Ile88Leu	Somatic	0	58	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	44	26.67	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP							pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.I88L	ENST00000245908.6	37	c.262	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	T	1.667	-0.509886	0.04231	.	.	ENSG00000125731	ENST00000245908	T	0.55588	0.51	4.97	0.516	0.17019	SH2 motif (5);	0.621797	0.13259	N	0.401434	T	0.27933	0.0688	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03739	-1.1008	10	0.35671	T	0.21	-2.572	6.8989	0.24271	0.0:0.3378:0.2542:0.408	.	88	Q9BRG2	SH23A_HUMAN	L	88	ENSP00000245908:I88L	ENSP00000245908:I88L	I	-	1	0	SH2D3A	6711806	1.000000	0.71417	0.057000	0.19452	0.002000	0.02628	0.659000	0.24994	-0.022000	0.13986	-0.451000	0.05528	ATA	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.637	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	protein_coding	OTTHUMT00000458016.1	T	NM_005490	-		6760806	-1	no_errors	ENST00000245908	ensembl	human	known	74_37	missense	SNP	0.790	A	A	6760806	T	A	6760806	3	1	128	1	0	0	0	0	1	0	0	0	14241	1464	51	5	1500	5	SH2D3A	19	6760806	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	1144355	6760806	52368177	294	9807											
OR7G3	390883	genome.wustl.edu	37	chr19	9237062	9237062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatgaggacatcagaacAggcgagcttgagaatatgag	13	5	1	5			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:9237062A>G	ENST00000305444.2	-	1	564	c.565T>C	c.(565-567)Tgt>Cgt	p.C189R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	189						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)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACATCAGAACAGGCGAGCTTG	0.458																																																	0								ENSG00000170920						73	71	71					19																	9237062		2203	4300	6503	OR7G3	SO:0001583	missense	0			-	HGNC		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.565T>C	19.37:g.9237062A>G	ENSP00000302867:p.Cys189Arg	Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	Q6IFJ6|Q96R99	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C189R	ENST00000305444.2	37	c.565	CCDS32899.1	19	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521841	0.64747	.	.	ENSG00000170920	ENST00000305444	T	0.00460	7.27	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	U	0.000445	T	0.02727	0.0082	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02411	-1.1163	10	0.66056	D	0.02	.	12.2397	0.54536	1.0:0.0:0.0:0.0	.	189	Q8NG95	OR7G3_HUMAN	R	189	ENSP00000302867:C189R	ENSP00000302867:C189R	C	-	1	0	OR7G3	9098062	0.997000	0.39634	0.082000	0.20525	0.198000	0.23893	5.885000	0.69736	1.825000	0.53177	0.450000	0.29827	TGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G3	protein_coding	OTTHUMT00000384611.1	A		-		9237062	-1	no_errors	ENST00000305444	ensembl	human	known	74_37	missense	SNP	0.978	G	G	9237062	A	G	9237062	3	3	128	1	0	0	0	0	1	0	0	0	11226	188	7	5	376	5	OR7G3	19	9237062	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	2476256	9237062	49891921	295	9808											
AP1M2	10053	genome.wustl.edu	37	chr19	10692454	10692454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctgtcggtggtctgcGggaagccaaagtccatgagc	14	10	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:10692454G>T	ENST00000250244.6	-	4	450	c.368C>A	c.(367-369)cCg>cAg	p.P123Q	AP1M2_ENST00000590923.1_Missense_Mutation_p.P123Q	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	123					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTGGTCTGCGGGAAGCCAAA	0.577																																																	0								ENSG00000129354						75	77	76					19																	10692454		2203	4300	6503	AP1M2	SO:0001583	missense	0			-	HGNC	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.368C>A	19.37:g.10692454G>T	ENSP00000250244:p.Pro123Gln	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	B2RDV5|Q9BSI8	Missense_Mutation	SNP							pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.P123Q	ENST00000250244.6	37	c.368	CCDS45964.1	19	.	.	.	.	.	.	.	.	.	.	g	24.1	4.493043	0.84962	.	.	ENSG00000129354	ENST00000250244	T	0.70631	-0.5	5.05	5.05	0.67936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.90573	0.7045	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94047	0.7314	10	0.87932	D	0	-33.4156	17.403	0.87465	0.0:0.0:1.0:0.0	.	123;123	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	Q	123	ENSP00000250244:P123Q	ENSP00000250244:P123Q	P	-	2	0	AP1M2	10553454	1.000000	0.71417	0.943000	0.38184	0.810000	0.45777	9.597000	0.98273	2.639000	0.89480	0.485000	0.47835	CCG	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.577	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP1M2	protein_coding	OTTHUMT00000452034.1	G		-		10692454	-1	no_errors	ENST00000590923	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10692454	G	T	10692454	3	4	128	1	0	0	0	0	1	0	0	0	735	1116	39	3	939	3	AP1M2	19	10692454	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1455392	10692454	48436529	296	9809											
KANK2	25959	genome.wustl.edu	37	chr19	11280774	11280774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagcagcagccccgCgatctccttgtggccgtgct	12	17	1	0	rs368328659		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:11280774C>T	ENST00000586659.1	-	11	2676	c.2362G>A	c.(2362-2364)Gcg>Acg	p.A788T	KANK2_ENST00000432929.2_Missense_Mutation_p.A796T|KANK2_ENST00000589894.1_Missense_Mutation_p.A788T|KANK2_ENST00000355150.5_Missense_Mutation_p.A788T|KANK2_ENST00000589359.1_Missense_Mutation_p.A796T|KANK2_ENST00000587317.1_5'UTR			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	788	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGCAGCCCCGCGATCTCCTTG	0.642																																																	0								ENSG00000197256	C	THR/ALA,THR/ALA	0,4406		0,0,2203	75	73	74		2362,2386	-2.7	0	19		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KANK2	NM_001136191.2,NM_015493.6	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	788/852,796/860	11280774	1,13005	2203	4300	6503	KANK2	SO:0001583	missense	0			-	HGNC	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2362G>A	19.37:g.11280774C>T	ENSP00000465650:p.Ala788Thr	Somatic	0	32	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A796T	ENST00000586659.1	37	c.2386	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198940	0.22121	0.0	1.16E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.67523	-0.27;-0.27	5.29	-2.73	0.05950	Ankyrin repeat-containing domain (4);	0.510398	0.19638	N	0.109508	T	0.49898	0.1584	L	0.36672	1.1	0.21950	N	0.999451	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.37798	-0.9690	10	0.36615	T	0.2	-4.4205	10.6463	0.45621	0.0:0.5499:0.0:0.4501	.	788;796	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	T	796;788	ENSP00000395650:A796T;ENSP00000347276:A788T	ENSP00000347276:A788T	A	-	1	0	KANK2	11141774	0.927000	0.31430	0.021000	0.16686	0.101000	0.19017	1.685000	0.37659	-0.382000	0.07870	-0.263000	0.10527	GCG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.642	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	protein_coding	OTTHUMT00000453066.2	C	NM_015493	-		11280774	-1	no_errors	ENST00000432929	ensembl	human	known	74_37	missense	SNP	0.713	T	T	11280774	C	T	11280774	3	4	128	1	0	0	0	0	1	0	0	0	7979	768	27	1	205	1	KANK2	19	11280774	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	588320	11280774	47848209	297	9810											
PKN1	5585	genome.wustl.edu	37	chr19	14561159	14561159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggggctgtggagctgCgcatcgaagagctgcggcac	17	11	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:14561159C>T	ENST00000242783.6	+	5	805	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	PKN1_ENST00000342216.4_Missense_Mutation_p.R220C	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	214					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGTGGAGCTGCGCATCGAAGA	0.667																																					NSCLC(185;2539 2965 10733 52867)												0								ENSG00000123143						17	21	20					19																	14561159		2139	4233	6372	PKN1	SO:0001583	missense	0			-	HGNC	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.640C>T	19.37:g.14561159C>T	ENSP00000242783:p.Arg214Cys	Somatic	0	83	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.R220C	ENST00000242783.6	37	c.658	CCDS42513.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356085	0.82243	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.21734	1.99;1.99	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000001	T	0.49660	0.1570	M	0.85630	2.765	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.58989	-0.7538	10	0.72032	D	0.01	-13.1927	13.8642	0.63578	0.0:1.0:0.0:0.0	.	220;214	Q16512-2;Q16512	.;PKN1_HUMAN	C	214;220	ENSP00000242783:R214C;ENSP00000343325:R220C	ENSP00000242783:R214C	R	+	1	0	PKN1	14422159	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.474000	0.53129	1.933000	0.56026	0.491000	0.48974	CGC	-	pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.667	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	protein_coding	OTTHUMT00000095510.1	C	NM_002741, NM_213560	-		14561159	1	no_errors	ENST00000342216	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14561159	C	T	14561159	3	4	128	1	0	0	0	0	1	0	0	0	11981	768	27	1	701	1	PKN1	19	14561159	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3280385	14561159	44567824	298	9811											
PGLYRP2	114770	genome.wustl.edu	37	chr19	15586656	15586656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgaccccatccagggcGccattgaggaaggccatggt	14	11	0	2	rs374756265		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:15586656G>A	ENST00000340880.4	-	2	1305	c.825C>T	c.(823-825)ggC>ggT	p.G275G	PGLYRP2_ENST00000292609.4_Silent_p.G275G	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	275					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATCCAGGGCGCCATTGAGGA	0.617													G|||	1	0.000199681	0	0	5008	,	,		18580	0		0	False		,,,				2504	0.001																0								ENSG00000161031	G		0,4406		0,0,2203	36	38	38		825	-9.8	0.8	19		38	1,8595		0,1,4297	no	coding-synonymous	PGLYRP2	NM_052890.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		275/577	15586656	1,13001	2203	4298	6501	PGLYRP2	SO:0001819	synonymous_variant	0			-	HGNC	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.825C>T	19.37:g.15586656G>A		Somatic	0	59	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP							pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.G275	ENST00000340880.4	37	c.825	CCDS12330.2	19																																																																																			-	NULL		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	protein_coding	OTTHUMT00000319626.1	G	NM_052890	-		15586656	-1	no_errors	ENST00000292609	ensembl	human	known	74_37	silent	SNP	0.380	A	A	15586656	G	A	15586656	2	1	128	1	0	0	0	0	0	0	0	1	11796	1074	38	1		1	PGLYRP2	19	15586656	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1025497	15586656	43542327	299	9812											
HAPLN4	404037	genome.wustl.edu	37	chr19	19369469	19369469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccgccgcagggctccCggggccggttcacggggtat	17	15	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:19369469C>T	ENST00000291481.7	-	4	743	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	227	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCAGGGCTCCCGGGGCCGGTT	0.716																																																	0								ENSG00000187664						16	19	18					19																	19369469		2195	4271	6466	HAPLN4	SO:0001583	missense	0			-	HGNC	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.680G>A	19.37:g.19369469C>T	ENSP00000291481:p.Arg227Gln	Somatic	0	132	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	86	25.22	A5PKW5|Q96PW2	Missense_Mutation	SNP							pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.R227Q	ENST00000291481.7	37	c.680	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352613	0.82132	.	.	ENSG00000187664	ENST00000291481	T	0.13538	2.58	3.97	3.97	0.46021	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000001	T	0.52273	0.1724	H	0.97659	4.05	0.46542	D	0.999098	D	0.89917	1.0	D	0.91635	0.999	T	0.71745	-0.4500	10	0.87932	D	0	-33.8438	14.7601	0.69600	0.0:1.0:0.0:0.0	.	227	Q86UW8	HPLN4_HUMAN	Q	227	ENSP00000291481:R227Q	ENSP00000291481:R227Q	R	-	2	0	HAPLN4	19230469	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.167000	0.77562	2.055000	0.61198	0.313000	0.20887	CGG	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.716	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	protein_coding	OTTHUMT00000460117.2	C	NM_023002	-		19369469	-1	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19369469	C	T	19369469	3	4	128	1	0	0	0	0	1	0	0	0	6959	652	23	1	536	1	HAPLN4	19	19369469	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	3782813	19369469	39759514	300	9813											
C19orf2	8725	genome.wustl.edu	37	chr19	30505904	30505904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaacgaaaggaagttctGttggaagcatctgaagaaac	11	7	2	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:30505904G>A	ENST00000542441.2	+	11	1833	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Silent_p.L472L|URI1_ENST00000392271.1_Silent_p.L436L			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	512					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										AGGAAGTTCTGTTGGAAGCAT	0.428																																																	0								ENSG00000105176						116	116	116					19																	30505904		2203	4300	6503	URI1	SO:0001819	synonymous_variant	0			-	HGNC	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1536G>A	19.37:g.30505904G>A		Somatic	0	59	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP							pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin	p.L512	ENST00000542441.2	37	c.1536	CCDS12420.1	19																																																																																			-	NULL		0.428	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	protein_coding	OTTHUMT00000439756.1	G	NM_134447	-		30505904	1	no_errors	ENST00000542441	ensembl	human	known	74_37	silent	SNP	0.723	A	A	30505904	G	A	30505904	2	1	128	1	0	0	0	0	0	0	0	1	1913	1364	48	2		2	C19orf2	19	30505904	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	11136435	30505904	28623079	301	9814											
FCGBP	8857	genome.wustl.edu	37	chr19	40411970	40411970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcacaggacaccaggcCgccctcctggcagtggcaaa	12	15	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:40411970C>T	ENST00000221347.6	-	7	3665	c.3658G>A	c.(3658-3660)Ggc>Agc	p.G1220S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1220	Cys-rich.					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)			GACACCAGGCCGCCCTCCTGG	0.677																																																	0								ENSG00000090920						43	44	44					19																	40411970		2203	4300	6503	FCGBP	SO:0001583	missense	0			-	HGNC	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.3658G>A	19.37:g.40411970C>T	ENSP00000221347:p.Gly1220Ser	Somatic	0	72	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G1220S	ENST00000221347.6	37	c.3658	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918045	0.73098	.	.	ENSG00000090920	ENST00000221347	T	0.07021	3.23	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.29256	0.0728	M	0.77616	2.38	0.41596	D	0.988828	D	0.89917	1.0	D	0.87578	0.998	T	0.03278	-1.1053	10	0.37606	T	0.19	.	15.8855	0.79244	0.0:1.0:0.0:0.0	.	1220	Q9Y6R7	FCGBP_HUMAN	S	1220	ENSP00000221347:G1220S	ENSP00000221347:G1220S	G	-	1	0	FCGBP	45103810	0.794000	0.28838	0.843000	0.33291	0.476000	0.33039	1.965000	0.40471	2.278000	0.76064	0.436000	0.28706	GGC	-	smart_VWC_out,smart_VWF_C		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890	-		40411970	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.991	T	T	40411970	C	T	40411970	3	4	128	1	0	0	0	0	1	0	0	0	5780	652	23	1	12679	1	FCGBP	19	40411970	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	9906066	40411970	18717013	302	9815											
BLVRB	645	genome.wustl.edu	37	chr19	40964425	40964425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggcagcctggaggagTcccgcaccagcactgtcact	12	14	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:40964425T>C	ENST00000263368.4	-	2	258	c.107A>G	c.(106-108)gAc>gGc	p.D36G	BLVRB_ENST00000595483.1_Missense_Mutation_p.D36G	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	36					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	CCTGGAGGAGTCCCGCACCAG	0.642																																																	0								ENSG00000090013						31	31	31					19																	40964425		2203	4299	6502	BLVRB	SO:0001583	missense	0			-	HGNC	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"Short chain dehydrogenase/reductase superfamily / Atypical members"	1063	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 43U, member 1"	600941	"Flavin reductase"	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.107A>G	19.37:g.40964425T>C	ENSP00000263368:p.Asp36Gly	Somatic	0	10	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Missense_Mutation	SNP							pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	p.D36G	ENST00000263368.4	37	c.107	CCDS33029.1	19	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526762	0.85706	.	.	ENSG00000090013	ENST00000263368	T	0.48201	0.82	5.38	5.38	0.77491	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	D	0.63033	0.91	T	0.75246	-0.3385	10	0.66056	D	0.02	-23.7774	14.3841	0.66931	0.0:0.0:0.0:1.0	.	36	P30043	BLVRB_HUMAN	G	36	ENSP00000263368:D36G	ENSP00000263368:D36G	D	-	2	0	BLVRB	45656265	1.000000	0.71417	0.668000	0.29813	0.980000	0.70556	7.089000	0.76909	2.057000	0.61298	0.455000	0.32223	GAC	-	pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase		0.642	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLVRB	protein_coding	OTTHUMT00000462563.1	T		-		40964425	-1	no_errors	ENST00000263368	ensembl	human	known	74_37	missense	SNP	0.993	C	C	40964425	T	C	40964425	3	2	128	1	0	0	0	0	1	0	0	0	1452	1667	58	5	529	5	BLVRB	19	40964425	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	552455	40964425	18164558	303	9816											
CYP2A7	1549	genome.wustl.edu	37	chr19	41387540	41387540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcttgctcgcctcgcccGctgaactcctcagcctggtc	11	17	1	1	rs112051160	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:41387540G>A	ENST00000301146.4	-	2	838	c.297C>T	c.(295-297)agC>agT	p.S99S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	99						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGCCTCGCCCGCTGAACTCCT	0.642													.|||	3	0.000599042	0.0023	0	5008	,	,		17262	0		0	False		,,,				2504	0																0								ENSG00000198077	G	,	1,4405	2.1+/-5.4	0,1,2202	62	55	57		297,	-0.2	0.8	19	dbSNP_132	57	0,8592		0,0,4296	no	coding-synonymous,intron	CYP2A7	NM_000764.2,NM_030589.2	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	99/495,	41387540	1,12997	2203	4296	6499	CYP2A7	SO:0001819	synonymous_variant	0			-	HGNC	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.297C>T	19.37:g.41387540G>A		Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	35	33.33	Q13121	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.S99	ENST00000301146.4	37	c.297	CCDS12569.1	19																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.642	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	protein_coding	OTTHUMT00000463269.2	G	NM_030589	rs112051160		41387540	-1	no_errors	ENST00000301146	ensembl	human	known	74_37	silent	SNP	0.136	A	A	41387540	G	A	41387540	2	1	128	1	0	0	0	0	0	0	0	1	4165	1078	38	1		1	CYP2A7	19	41387540	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	423115	41387540	17741443	304	9817											
PSG2	5670	genome.wustl.edu	37	chr19	43585129	43585129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgtcctcccgggtgaCattctggatcagcagggatg	13	12	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:43585129C>T	ENST00000406487.1	-	2	432	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	112	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCCCGGGTGACATTCTGGATC	0.438																																																	0								ENSG00000242221						101	103	102					19																	43585129		2203	4282	6485	PSG2	SO:0001583	missense	0			-	HGNC		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.334G>A	19.37:g.43585129C>T	ENSP00000385706:p.Val112Ile	Somatic	0	240	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	171	27.54	Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V112I	ENST00000406487.1	37	c.334	CCDS12616.1	19	.	.	.	.	.	.	.	.	.	.	N	10.56	1.383342	0.25031	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.66815	-0.23	0.569	0.569	0.17340	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77864	0.4194	M	0.77103	2.36	0.09310	N	1	P;D	0.63880	0.661;0.993	P;D	0.74674	0.863;0.984	T	0.63932	-0.6525	8	0.42905	T	0.14	.	.	.	.	.	112;112	B5MCM8;P11465	.;PSG2_HUMAN	I	112	ENSP00000385706:V112I	ENSP00000332984:V112I	V	-	1	0	PSG2	48276969	0.003000	0.15002	0.206000	0.23566	0.036000	0.12997	0.086000	0.14935	0.567000	0.29293	0.184000	0.17185	GTC	-	pfam_Ig_V-set,smart_Ig_sub		0.438	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	protein_coding	OTTHUMT00000323083.1	C	NM_031246	-		43585129	-1	no_errors	ENST00000406487	ensembl	human	known	74_37	missense	SNP	0.304	T	T	43585129	C	T	43585129	3	4	128	1	0	0	0	0	1	0	0	0	12660	478	17	2	689	2	PSG2	19	43585129	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	2197589	43585129	15543854	305	9818											
ZNF225	7768	genome.wustl.edu	37	chr19	44636829	44636829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgaggactgtgggaagCgctacaagaggcgcttgaat	15	6	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:44636829C>T	ENST00000262894.6	+	5	2342	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	ZNF225_ENST00000590612.1_Missense_Mutation_p.R688C|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	688					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CTGTGGGAAGCGCTACAAGAG	0.408																																																	0								ENSG00000256294						43	42	43					19																	44636829		2203	4300	6503	ZNF225	SO:0001583	missense	0			-	HGNC	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.2062C>T	19.37:g.44636829C>T	ENSP00000262894:p.Arg688Cys	Somatic	0	69	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R688C	ENST00000262894.6	37	c.2062	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710537	0.30322	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.15487	2.42	2.0	0.879	0.19155	.	.	.	.	.	T	0.14356	0.0347	N	0.17594	0.5	0.09310	N	1	D	0.76494	0.999	P	0.56216	0.794	T	0.12553	-1.0543	9	0.52906	T	0.07	.	0.9733	0.01420	0.1575:0.2475:0.3735:0.2215	.	688	Q9UK10	ZN225_HUMAN	C	688;652	ENSP00000262894:R688C	ENSP00000262894:R688C	R	+	1	0	ZNF225	49328669	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	-1.173000	0.03108	0.154000	0.19237	-0.479000	0.04858	CGC	-	NULL		0.408	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	protein_coding	OTTHUMT00000460581.1	C		-		44636829	1	no_errors	ENST00000262894	ensembl	human	known	74_37	missense	SNP	0.123	T	T	44636829	C	T	44636829	3	4	128	1	0	0	0	0	1	0	0	0	17786	768	27	1	2076	1	ZNF225	19	44636829	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1051700	44636829	14492154	306	9819											
PVR	5817	genome.wustl.edu	37	chr19	45150757	45150757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggatgttcgggttgcgCgtagaggatgaaggcaacta	16	6	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:45150757C>T	ENST00000425690.3	+	2	641	c.342C>T	c.(340-342)cgC>cgT	p.R114R	PVR_ENST00000403059.4_Silent_p.R114R|PVR_ENST00000406449.4_Silent_p.R114R|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Silent_p.R114R	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	114	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGGGTTGCGCGTAGAGGATG	0.622																																																	0								ENSG00000073008						60	52	55					19																	45150757		2203	4300	6503	PVR	SO:0001819	synonymous_variant	0			-	HGNC	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.342C>T	19.37:g.45150757C>T		Somatic	0	41	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP							pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R114	ENST00000425690.3	37	c.342	CCDS12640.1	19																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.622	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	C	NM_006505	-		45150757	1	no_errors	ENST00000425690	ensembl	human	known	74_37	silent	SNP	0.000	T	T	45150757	C	T	45150757	2	4	128	1	0	0	0	0	0	0	0	1	12845	755	27	1		1	PVR	19	45150757	Silent	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	513928	45150757	13978226	307	9820											
BCAM	4059	genome.wustl.edu	37	chr19	45316842	45316842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgagggccgccacggccGcctggacagccccaccttcc	12	21	0	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:45316842G>A	ENST00000270233.6	+	6	771	c.749G>A	c.(748-750)cGc>cAc	p.R250H	BCAM_ENST00000589651.1_Missense_Mutation_p.R250H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	250	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.R250H(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGCCACGGCCGCCTGGACAGC	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000187244						39	45	43					19																	45316842		2194	4295	6489	BCAM	SO:0001583	missense	0			-	HGNC	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.749G>A	19.37:g.45316842G>A	ENSP00000270233:p.Arg250His	Somatic	0	25	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP							pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R250H	ENST00000270233.6	37	c.749	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	8.941	0.965821	0.18583	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.60548	0.18;0.22	4.15	1.57	0.23409	Immunoglobulin-like (1);	.	.	.	.	T	0.37919	0.1021	L	0.31294	0.92	0.31424	N	0.673963	B	0.13594	0.008	B	0.04013	0.001	T	0.34825	-0.9813	9	0.35671	T	0.21	-22.8633	2.4365	0.04484	0.2985:0.0:0.4704:0.2311	.	250	P50895	BCAM_HUMAN	H	250	ENSP00000270233:R250H;ENSP00000375817:R250H	ENSP00000270233:R250H	R	+	2	0	BCAM	50008682	0.002000	0.14202	1.000000	0.80357	0.474000	0.32979	-0.892000	0.04131	0.870000	0.35726	0.462000	0.41574	CGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.667	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	protein_coding	OTTHUMT00000453220.1	G	NM_005581	-		45316842	1	no_errors	ENST00000270233	ensembl	human	known	74_37	missense	SNP	0.991	A	A	45316842	G	A	45316842	3	1	128	1	0	0	0	0	1	0	0	0	1344	1087	38	1	771	1	BCAM	19	45316842	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	166085	45316842	13812141	308	9821											
TPRX1	284355	genome.wustl.edu	37	chr19	48305590	48305590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagattgggcctgggatTgggcctgggatcgggcctgg	19	9	0	1	rs12461263		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:48305590T>C	ENST00000322175.3	-	2	833	c.678A>G	c.(676-678)ccA>ccG	p.P226P	TPRX1_ENST00000535759.1_Silent_p.P323P|TPRX1_ENST00000543508.1_Silent_p.P216P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	226	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcctgggattgggcctggga	0.667																																					Esophageal Squamous(123;175 2281 3051 32395)												0								ENSG00000178928						11	9	9					19																	48305590		1972	3929	5901	TPRX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.678A>G	19.37:g.48305590T>C		Somatic	0	148	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	80	18.37	A5D8Y3|B2RPL5	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P323	ENST00000322175.3	37	c.969	CCDS33066.1	19																																																																																			-	NULL		0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	protein_coding	OTTHUMT00000409868.1	T	NM_198479	rs12461263		48305590	-1	no_errors	ENST00000535759	ensembl	human	known	74_37	silent	SNP	0.035	C	C	48305590	T	C	48305590	2	2	128	1	0	0	0	0	0	0	0	1	16429	1799	63	5		5	TPRX1	19	48305590	Silent	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	2988748	48305590	10823393	309	9822											
PRR12	57479	genome.wustl.edu	37	chr19	50097789	50097789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgtcatgaaccttatctCggccctggaatcccggggcc	10	16	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:50097789C>T	ENST00000418929.2	+	3	290	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AACCTTATCTCGGCCCTGGAA	0.677																																																	0								ENSG00000126464						39	47	44					19																	50097789		1892	4092	5984	PRR12	SO:0001583	missense	0			-	HGNC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.278C>T	19.37:g.50097789C>T	ENSP00000394510:p.Ser93Leu	Somatic	0	47	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	E9PB06|Q8N4J6	Missense_Mutation	SNP							NULL	p.S93L	ENST00000418929.2	37	c.278	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908434	0.52333	.	.	ENSG00000126464	ENST00000418929	T	0.29917	1.55	4.65	4.65	0.58169	.	.	.	.	.	T	0.49558	0.1564	.	.	.	0.38401	D	0.945655	D	0.71674	0.998	P	0.56398	0.797	T	0.59526	-0.7438	8	0.87932	D	0	.	16.4582	0.84029	0.0:1.0:0.0:0.0	.	93	Q9ULL5-3	.	L	93	ENSP00000394510:S93L	ENSP00000394510:S93L	S	+	2	0	PRR12	54789601	1.000000	0.71417	0.956000	0.39512	0.976000	0.68499	6.984000	0.76186	2.419000	0.82065	0.563000	0.77884	TCG	-	NULL		0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	protein_coding	OTTHUMT00000465915.1	C	NM_020719	-		50097789	1	no_errors	ENST00000418929	ensembl	human	novel	74_37	missense	SNP	0.999	T	T	50097789	C	T	50097789	3	4	128	1	0	0	0	0	1	0	0	0	12589	893	31	1	288	1	PRR12	19	50097789	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1792199	50097789	9031194	310	9823											
KCNC3	3748	genome.wustl.edu	37	chr19	50826791	50826791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtcatcggggtcggcGccaatgcgctcagcgtagta	15	10	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:50826791G>A	ENST00000477616.1	-	2	1713	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	KCNC3_ENST00000376959.2_Silent_p.G473G|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	473					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CGGGGTCGGCGCCAATGCGCT	0.597																																					Melanoma(91;1496 2324 50908)												0								ENSG00000131398						99	97	97					19																	50826791		2203	4300	6503	KCNC3	SO:0001819	synonymous_variant	0			-	HGNC	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1419C>T	19.37:g.50826791G>A		Somatic	0	49	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67		Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.G473	ENST00000477616.1	37	c.1419	CCDS12793.1	19																																																																																			-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom		0.597	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	protein_coding	OTTHUMT00000314288.2	G	NM_004977	-		50826791	-1	no_errors	ENST00000477616	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50826791	G	A	50826791	2	1	128	1	0	0	0	0	0	0	0	1	8018	1074	38	1		1	KCNC3	19	50826791	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	729002	50826791	8302192	311	9824											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51645979	51645979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgccagaatgagtgatgCggggagatacttctttcgta	13	6	1	5			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:51645979C>T	ENST00000317643.6	+	1	422	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A118V|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.A118V	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	118	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATGAGTGATGCGGGGAGATAC	0.488																																																	0								ENSG00000168995						98	97	97					19																	51645979		2203	4300	6503	SIGLEC7	SO:0001583	missense	0			-	HGNC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.353C>T	19.37:g.51645979C>T	ENSP00000323328:p.Ala118Val	Somatic	0	81	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A118V	ENST00000317643.6	37	c.353	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	6.716	0.500800	0.12822	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.66460	-0.21;-0.21;-0.21	2.72	-5.44	0.02624	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	11.161200	0.00357	N	0.000030	T	0.49490	0.1560	L	0.59436	1.845	0.09310	N	1	P;P;P	0.52842	0.956;0.937;0.819	B;B;B	0.30716	0.119;0.009;0.117	T	0.57370	-0.7823	10	0.46703	T	0.11	.	1.5931	0.02658	0.2013:0.2721:0.4002:0.1264	.	118;118;118	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	V	118	ENSP00000323328:A118V;ENSP00000306757:A118V;ENSP00000437609:A118V	ENSP00000306757:A118V	A	+	2	0	SIGLEC7	56337791	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.173000	0.00572	-2.550000	0.00480	-1.373000	0.01185	GCG	-	pfam_Ig_V-set,smart_Ig_sub		0.488	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	C	NM_016543	-		51645979	1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	SNP	0.000	T	T	51645979	C	T	51645979	3	4	128	1	0	0	0	0	1	0	0	0	14321	768	27	1	355	1	SIGLEC7	19	51645979	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	819188	51645979	7483004	312	9825											
ZNF610	162963	genome.wustl.edu	37	chr19	52856965	52856965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattcatggacgtggccatcGaattctctcaggaggagtgg	13	9	3	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:52856965G>A	ENST00000403906.3	+	4	550	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ZNF610_ENST00000601151.1_Missense_Mutation_p.E32K|ZNF610_ENST00000321287.8_Missense_Mutation_p.E32K|ZNF610_ENST00000327920.8_Missense_Mutation_p.E32K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	32	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)	p.E32K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CGTGGCCATCGAATTCTCTCA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000167554						99	99	99					19																	52856965		2203	4300	6503	ZNF610	SO:0001583	missense	0			-	HGNC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.94G>A	19.37:g.52856965G>A	ENSP00000383922:p.Glu32Lys	Somatic	0	117	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	86	22.52	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E32K	ENST00000403906.3	37	c.94	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795448	0.31777	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.01767	4.65;4.65;4.65	1.47	0.375	0.16188	Krueppel-associated box (4);	.	.	.	.	T	0.02455	0.0075	M	0.79926	2.475	0.22292	N	0.999225	B;B	0.31611	0.284;0.331	B;B	0.18561	0.007;0.022	T	0.40001	-0.9586	9	0.56958	D	0.05	.	2.203	0.03928	0.1998:0.0:0.4993:0.3009	.	32;32	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	K	32	ENSP00000383922:E32K;ENSP00000324441:E32K;ENSP00000327597:E32K	ENSP00000324441:E32K	E	+	1	0	ZNF610	57548777	0.170000	0.23016	0.914000	0.36105	0.277000	0.26821	1.766000	0.38491	0.178000	0.19917	0.563000	0.77884	GAA	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	protein_coding	OTTHUMT00000462880.1	G	NM_173530	-		52856965	1	no_errors	ENST00000321287	ensembl	human	known	74_37	missense	SNP	0.891	A	A	52856965	G	A	52856965	3	1	128	1	0	0	0	0	1	0	0	0	18043	1059	37	1	100	1	ZNF610	19	52856965	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1210986	52856965	6272018	313	9826											
ZNF600	162966	genome.wustl.edu	37	chr19	53269192	53269192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacttgtaaggtttctctGcagtgtgaattctggtatgt	10	6	2	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:53269192G>A	ENST00000338230.3	-	3	2084	c.1817C>T	c.(1816-1818)gCa>gTa	p.A606V		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	606					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGGTTTCTCTGCAGTGTGAAT	0.388																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								ENSG00000189190						141	139	140					19																	53269192		2203	4300	6503	ZNF600	SO:0001583	missense	0			-	HGNC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1817C>T	19.37:g.53269192G>A	ENSP00000344791:p.Ala606Val	Somatic	0	132	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	97	31.69	Q6MZR0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A606V	ENST00000338230.3	37	c.1817	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	14.17	2.456063	0.43634	.	.	ENSG00000189190	ENST00000338230	T	0.15487	2.42	1.61	-1.72	0.08107	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	N	0.13098	0.295	0.22435	N	0.999104	B	0.34264	0.446	B	0.39379	0.298	T	0.33471	-0.9867	9	0.72032	D	0.01	.	5.6297	0.17504	0.2182:0.5586:0.2232:0.0	.	606	Q6ZNG1	ZN600_HUMAN	V	606	ENSP00000344791:A606V	ENSP00000344791:A606V	A	-	2	0	ZNF600	57961004	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	-0.261000	0.08694	-0.516000	0.06470	0.184000	0.17185	GCA	-	pfscan_Znf_C2H2		0.388	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	G	NM_198457	-		53269192	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	SNP	0.955	A	A	53269192	G	A	53269192	3	1	128	1	0	0	0	0	1	0	0	0	18037	1319	46	2	355	2	ZNF600	19	53269192	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	412227	53269192	5859791	314	9827											
LENG8	114823	genome.wustl.edu	37	chr19	54967838	54967838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctggcgcccaccaagcGcagtcgaaagaagatggcgg	14	12	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:54967838G>A	ENST00000326764.5	+	11	1948	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	453										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCACCAAGCGCAGTCGAAAG	0.672																																																	0								ENSG00000167615						16	21	19					19																	54967838		2200	4292	6492	LENG8	SO:0001583	missense	0			-	HGNC	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1469G>A	19.37:g.54967838G>A	ENSP00000318374:p.Arg490His	Somatic	0	65	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP							pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R490H	ENST00000326764.5	37	c.1469	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560161	0.65538	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.34275	1.41;1.38;1.37	4.17	4.17	0.49024	.	0.073354	0.56097	D	0.000028	T	0.37156	0.0993	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60117	0.843;0.869	T	0.04708	-1.0932	10	0.30078	T	0.28	-29.7529	8.5804	0.33626	0.1097:0.0:0.8903:0.0	.	490;453	Q96PV6-2;F8W9Q9	.;.	H	490;453;453;490	ENSP00000318374:R490H;ENSP00000365709:R453H;ENSP00000388053:R490H	ENSP00000301196:R453H	R	+	2	0	LENG8	59659650	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	3.477000	0.53151	2.275000	0.75901	0.462000	0.41574	CGC	-	NULL		0.672	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	protein_coding	OTTHUMT00000140523.2	G	NM_052925	-		54967838	1	no_errors	ENST00000326764	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54967838	G	A	54967838	3	1	128	1	0	0	0	0	1	0	0	0	8726	1087	38	1	1507	1	LENG8	19	54967838	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1698646	54967838	4161145	315	9828											
NLRP2	55655	genome.wustl.edu	37	chr19	55494501	55494501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctcggggtgcaggagtccGacctccgtctgttcctggac	15	13	1	0	rs143361632		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:55494501G>A	ENST00000543010.1	+	6	1578	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	NLRP2_ENST00000391721.4_Missense_Mutation_p.D455N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D476N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D457N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D457N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D456N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D479N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D455N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	479	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGTCCGACCTCCGTCT	0.642																																																	0								ENSG00000022556	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405		0,1,2202	39	38	38		1435,1369,1366,1435	0.8	0	19	dbSNP_134	38	0,8600		0,0,4300	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	23,23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	479/1063,457/1041,456/1040,479/1063	55494501	1,13005	2203	4300	6503	NLRP2	SO:0001583	missense	0			-	HGNC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1435G>A	19.37:g.55494501G>A	ENSP00000445135:p.Asp479Asn	Somatic	0	35	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D479N	ENST00000543010.1	37	c.1435	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933190	0.34096	2.27E-4	0.0	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.76448	-1.0;-0.92;-0.93;-1.0;-0.93;-1.02;-0.92;-1.0	1.85	0.794	0.18638	.	0.778678	0.10493	N	0.668237	T	0.71668	0.3367	M	0.62209	1.925	0.09310	N	1	P;P;P;P;P	0.42973	0.796;0.735;0.617;0.735;0.617	B;B;B;B;B	0.41646	0.177;0.362;0.198;0.362;0.198	T	0.61540	-0.7042	10	0.51188	T	0.08	.	4.417	0.11461	0.1989:0.0:0.8011:0.0	.	456;457;476;455;479	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	N	479;455;457;479;457;456;455;476	ENSP00000445135:D479N;ENSP00000375601:D455N;ENSP00000344074:D457N;ENSP00000409370:D479N;ENSP00000440601:D457N;ENSP00000402474:D456N;ENSP00000441133:D455N;ENSP00000263437:D476N	ENSP00000263437:D476N	D	+	1	0	NLRP2	60186313	0.009000	0.17119	0.001000	0.08648	0.018000	0.09664	0.936000	0.28938	0.374000	0.24650	0.556000	0.70494	GAC	-	NULL		0.642	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	protein_coding	OTTHUMT00000396152.1	G	NM_017852	rs143361632		55494501	1	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55494501	G	A	55494501	3	1	128	1	0	0	0	0	1	0	0	0	10479	1058	37	1	1453	1	NLRP2	19	55494501	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	526663	55494501	3634482	316	9829											
ZNF835	90485	genome.wustl.edu	37	chr19	57175104	57175104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctggtgtcggatgagcGcggaggagaagctgaaggcc	17	9	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:57175104G>A	ENST00000537055.2	-	2	1694	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	488					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCGGATGAGCGCGGAGGAGAA	0.627																																																	0								ENSG00000127903						129	142	138					19																	57175104		2203	4300	6503	ZNF835	SO:0001583	missense	0			-	HGNC	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1463C>T	19.37:g.57175104G>A	ENSP00000444747:p.Ala488Val	Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	B7Z5Y0|G3V1S0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A488V	ENST00000537055.2	37	c.1463	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143228	0.21205	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.35973	1.28	2.17	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	P	0.36959	0.575	B	0.15484	0.013	T	0.10474	-1.0628	9	0.27785	T	0.31	.	8.4197	0.32692	0.0:0.245:0.755:0.0	.	510	Q9Y2P0	ZN835_HUMAN	V	510;488	ENSP00000444747:A488V	ENSP00000341756:A510V	A	-	2	0	ZNF835	61866916	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.148000	0.16224	0.425000	0.26087	0.561000	0.74099	GCG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	protein_coding	OTTHUMT00000459800.1	G	NM_001005850	-		57175104	-1	no_errors	ENST00000537055	ensembl	human	known	74_37	missense	SNP	0.280	A	A	57175104	G	A	57175104	3	1	128	1	0	0	0	0	1	0	0	0	18193	1087	38	1	152	1	ZNF835	19	57175104	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	1680603	57175104	1953879	317	9830											
ZIM3	114026	genome.wustl.edu	37	chr19	57646928	57646928	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggatgatttccaggaaaaGgcttttccacatgtcttaca	8	9	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr19:57646928G>T	ENST00000269834.1	-	5	1162	c.777C>A	c.(775-777)gcC>gcA	p.A259A	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	259					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.A259A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGGAAAAGGCTTTTCCAC	0.368																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000141946						126	123	124					19																	57646928		2203	4300	6503	ZIM3	SO:0001819	synonymous_variant	0			-	HGNC	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.777C>A	19.37:g.57646928G>T		Somatic	0	48	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q14CA6	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A259	ENST00000269834.1	37	c.777	CCDS33125.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	protein_coding	OTTHUMT00000465078.1	G		-		57646928	-1	no_errors	ENST00000269834	ensembl	human	known	74_37	silent	SNP	0.983	T	T	57646928	G	T	57646928	2	4	128	1	0	0	0	0	0	0	0	1	17692	987	35	3		3	ZIM3	19	57646928	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	471824	57646928	1482055	318	9831											
GFRA4	64096	genome.wustl.edu	37	chr20	3644008	3644010	+	In_Frame_Del	DEL	CAG	CAG	-													gaggggcgctcacccagtaaCagcagcagcagcagcgcagg							TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:3644008_3644010delCAG	ENST00000319242.3	-	1	36_38	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_ENST00000290417.2_In_Frame_Del_p.L15del			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	15					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621																																																	0								ENSG00000125861																																			GFRA4	SO:0001651	inframe_deletion	0				HGNC	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.37_39delCTG	20.37:g.3644017_3644019delCAG	ENSP00000313423:p.Leu15del	Somatic	0	63	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	Q5JT74|Q9H191|Q9H192	In_Frame_Del	DEL							pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt	p.L15in_frame_del	ENST00000319242.3	37	c.39_37	CCDS13056.1	20																																																																																			-	NULL		0.621	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA4	protein_coding	OTTHUMT00000077744.1	CAG	NM_145762			3644010	-1	no_errors	ENST00000319242	ensembl	human	known	74_37	in_frame_del	DEL	0.177:0.215:0.210	-	-	3644010	CAG	-	3644008	7	5	128	1	0	1	0	1	0	0	0	0	6352	465	17	0	880	0	GFRA4	20	3644008	In_Frame_Del	DEL	CAG	TCGA-DX-AB32-01A-11D-A417-09		3644008	59381512	319	9832											
C20orf29	55317	genome.wustl.edu	37	chr20	3804825	3804825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccagccttctgctgCgggctgaccgcattgagggc	13	15	1	2	rs531687236		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:3804825C>T	ENST00000246041.2	+	3	703	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	AP5S1_ENST00000379567.2_Missense_Mutation_p.R162W|AP5S1_ENST00000379573.2_3'UTR			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	162					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											CCTTCTGCTGCGGGCTGACCG	0.622																																																	0								ENSG00000125843						73	58	63					20																	3804825		2203	4300	6503	AP5S1	SO:0001583	missense	0			-	HGNC	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"chromosome 20 open reading frame 29"	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.484C>T	20.37:g.3804825C>T	ENSP00000246041:p.Arg162Trp	Somatic	0	49	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B3KSD0|D3DVY7	Missense_Mutation	SNP							NULL	p.R162W	ENST00000246041.2	37	c.484	CCDS13070.1	20	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419545	0.62622	.	.	ENSG00000125843	ENST00000379567;ENST00000246041	.	.	.	5.72	1.1	0.20463	.	0.343135	0.28589	N	0.014816	T	0.60983	0.2311	L	0.56769	1.78	0.27907	N	0.938756	D	0.89917	1.0	D	0.76071	0.987	T	0.57081	-0.7872	9	0.87932	D	0	-19.6433	12.311	0.54927	0.5405:0.4595:0.0:0.0	.	162	Q9NUS5	CT029_HUMAN	W	162	.	ENSP00000246041:R162W	R	+	1	2	C20orf29	3752825	0.911000	0.30947	0.999000	0.59377	0.551000	0.35334	0.366000	0.20365	0.732000	0.32470	0.561000	0.74099	CGG	-	NULL		0.622	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5S1	protein_coding	OTTHUMT00000077768.2	C	NM_018347	-		3804825	1	no_errors	ENST00000246041	ensembl	human	known	74_37	missense	SNP	0.988	T	T	3804825	C	T	3804825	3	4	128	1	0	0	0	0	1	0	0	0	2110	759	27	1	490	1	C20orf29	20	3804825	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	160817	3804825	59220695	320	9833											
GPCPD1	56261	genome.wustl.edu	37	chr20	5564938	5564938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttactgtggattccaAattgtccatcgtcaataata	5	10	2	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:5564938A>G	ENST00000379019.4	-	6	550	c.338T>C	c.(337-339)tTt>tCt	p.F113S	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	113	CBM20. {ECO:0000255|PROSITE- ProRule:PRU00594}.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTGGATTCCAAATTGTCCATC	0.303																																																	0								ENSG00000125772						98	93	95					20																	5564938		2202	4299	6501	GPCPD1	SO:0001583	missense	0			-	HGNC		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.338T>C	20.37:g.5564938A>G	ENSP00000368305:p.Phe113Ser	Somatic	0	128	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	68	36.45	D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP							pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20	p.F113S	ENST00000379019.4	37	c.338	CCDS13090.1	20	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128279	0.77549	.	.	ENSG00000125772	ENST00000379019	T	0.69806	-0.43	5.47	5.47	0.80525	Carbohydrate-binding-like fold (1);Glycoside hydrolase, carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.83496	0.5267	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86515	0.1812	10	0.87932	D	0	-13.2466	15.5399	0.76035	1.0:0.0:0.0:0.0	.	113	Q9NPB8	GPCP1_HUMAN	S	113	ENSP00000368305:F113S	ENSP00000368305:F113S	F	-	2	0	GPCPD1	5512938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.006000	0.88564	2.074000	0.62210	0.482000	0.46254	TTT	-	superfamily_Carb-bd-like_fold,pfscan_CBM_fam20		0.303	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPCPD1	protein_coding	OTTHUMT00000077869.1	A	NM_019593	-		5564938	-1	no_errors	ENST00000379019	ensembl	human	known	74_37	missense	SNP	1.000	G	G	5564938	A	G	5564938	3	3	128	1	0	0	0	0	1	0	0	0	6605	14	1	5	1740	5	GPCPD1	20	5564938	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	1760113	5564938	57460582	321	9834											
KIF3B	9371	genome.wustl.edu	37	chr20	30898718	30898718	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattggtaggaggaagaggCgagagaagcggagggaaggt	20	4	0	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:30898718C>T	ENST00000375712.3	+	2	1305	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	380					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGAAGAGGCGAGAGAAGCG	0.572																																																	0								ENSG00000101350						53	51	52					20																	30898718		2203	4300	6503	KIF3B	SO:0001587	stop_gained	0			-	HGNC	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1138C>T	20.37:g.30898718C>T	ENSP00000364864:p.Arg380*	Somatic	0	23	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	B2RMP4|B4DSR5|E1P5M5	Nonsense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R380*	ENST00000375712.3	37	c.1138	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.280443	0.97440	.	.	ENSG00000101350	ENST00000375712	.	.	.	4.94	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	13.8182	0.63306	0.2378:0.7622:0.0:0.0	.	.	.	.	X	380	.	ENSP00000364864:R380X	R	+	1	2	KIF3B	30362379	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.697000	0.54764	2.583000	0.87209	0.462000	0.41574	CGA	-	superfamily_P-loop_NTPase		0.572	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	protein_coding	OTTHUMT00000078619.1	C	NM_004798	-		30898718	1	no_errors	ENST00000375712	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	30898718	C	T	30898718	4	4	128	1	0	0	0	0	0	1	0	0	8303	760	27	1	1140	1	KIF3B	20	30898718	Nonsense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	25333780	30898718	32126802	322	9835											
SAMHD1	25939	genome.wustl.edu	37	chr20	35555586	35555586	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtatgaatacataccGtccatttcacctccgggcga	8	12	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:35555586G>A	ENST00000262878.4	-	6	894	c.695C>T	c.(694-696)aCg>aTg	p.T232M	SAMHD1_ENST00000373694.5_Splice_Site_p.T17M	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	232	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATACATACCGTCCATTTCAC	0.353																																																	0								ENSG00000101347						105	102	103					20																	35555586		2203	4300	6503	SAMHD1	SO:0001630	splice_region_variant	0			-	HGNC	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.696+1C>T	20.37:g.35555586G>A		Somatic	0	74	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	59	22.37	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP							pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.T232M	ENST00000262878.4	37	c.695	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345827	0.82022	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95171	-3.63;-3.63	5.76	-3.85	0.04243	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.484683	0.24776	N	0.035683	D	0.93943	0.8061	L	0.59912	1.85	0.27804	N	0.942376	D	0.65815	0.995	P	0.56788	0.806	D	0.90165	0.4231	10	0.59425	D	0.04	-3.1125	12.1145	0.53858	0.0:0.1608:0.1534:0.6859	.	232	Q9Y3Z3	SAMH1_HUMAN	M	232;17	ENSP00000262878:T232M;ENSP00000362798:T17M	ENSP00000262878:T232M	T	-	2	0	SAMHD1	34989000	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	0.659000	0.24994	-0.169000	0.10834	0.655000	0.94253	ACG	-	pfam_HD_domain,smart_HD/PDEase_dom		0.353	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	protein_coding	OTTHUMT00000079062.2	G	NM_015474	-	Missense_Mutation	35555586	-1	no_errors	ENST00000262878	ensembl	human	known	74_37	missense	SNP	0.999	A	A	35555586	G	A	35555586	5	1	128	1	0	0	0	0	0	0	1	0	13836	1159	40	1	1229	1	SAMHD1	20	35555586	Splice_Site	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	4656868	35555586	27469934	323	9836											
RPN2	6185	genome.wustl.edu	37	chr20	35858442	35858442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtcccagaaccttttcActccaaaacaggaaattcag	5	12	3	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:35858442A>G	ENST00000237530.6	+	13	1872	c.1561A>G	c.(1561-1563)Act>Gct	p.T521A	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Missense_Mutation_p.T489A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	521					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GAACCTTTTCACTCCAAAACA	0.483																																																	0								ENSG00000118705						115	112	113					20																	35858442		2203	4300	6503	RPN2	SO:0001583	missense	0			-	HGNC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1561A>G	20.37:g.35858442A>G	ENSP00000237530:p.Thr521Ala	Somatic	0	63	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	64	20.99	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP							pfam_Swp1	p.T521A	ENST00000237530.6	37	c.1561	CCDS13291.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.01|13.01	2.108959|2.108959	0.37242|0.37242	.|.	.|.	ENSG00000118705|ENSG00000118705	ENST00000456400|ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329	.|T;T;T	.|0.40225	.|1.04;1.04;1.04	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.141818	.|0.64402	.|D	.|0.000014	T|T	0.25791|0.25791	0.0628|0.0628	N|N	0.22421|0.22421	0.69|0.69	0.36902|0.36902	D|D	0.890466|0.890466	.|B;B	.|0.22800	.|0.075;0.044	.|B;B	.|0.15870	.|0.014;0.013	T|T	0.13899|0.13899	-1.0492|-1.0492	5|10	.|0.02654	.|T	.|1	-23.3181|-23.3181	13.8738|13.8738	0.63638|0.63638	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|489;521	.|Q5JYR6;P04844	.|.;RPN2_HUMAN	R|A	45|521;489;60;45;60	.|ENSP00000237530:T521A;ENSP00000362724:T489A;ENSP00000409580:T60A	.|ENSP00000237530:T521A	H|T	+|+	2|1	0|0	RPN2|RPN2	35291856|35291856	0.994000|0.994000	0.37717|0.37717	0.991000|0.991000	0.47740|0.47740	0.961000|0.961000	0.63080|0.63080	3.582000|3.582000	0.53921|0.53921	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAC|ACT	-	pfam_Swp1		0.483	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	protein_coding	OTTHUMT00000079076.2	A	NM_002951	-		35858442	1	no_errors	ENST00000237530	ensembl	human	known	74_37	missense	SNP	1.000	G	G	35858442	A	G	35858442	3	3	128	1	0	0	0	0	1	0	0	0	13616	159	6	5	1611	5	RPN2	20	35858442	Missense_Mutation	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	302856	35858442	27167078	324	9837											
PLTP	5360	genome.wustl.edu	37	chr20	44539885	44539885	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagcgcagcccctcctGcttcactgaagcagcagaga	10	14	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:44539885G>A	ENST00000477313.1	-	2	700	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	PLTP_ENST00000372431.3_Nonsense_Mutation_p.Q36*|PLTP_ENST00000542937.1_Nonsense_Mutation_p.Q56*|PLTP_ENST00000420868.2_Nonsense_Mutation_p.Q36*|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000354050.4_Nonsense_Mutation_p.Q36*			P55058	PLTP_HUMAN	phospholipid transfer protein	36					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCCCCTCCTGCTTCACTGAA	0.597																																																	0								ENSG00000100979						70	72	71					20																	44539885		2203	4300	6503	PLTP	SO:0001587	stop_gained	0			-	HGNC	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.106C>T	20.37:g.44539885G>A	ENSP00000417138:p.Gln36*	Somatic	0	64	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Nonsense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.Q56*	ENST00000477313.1	37	c.166	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.219277	0.97385	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	.	.	.	5.2	5.2	0.72013	.	0.475254	0.24750	N	0.035911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.7989	18.9155	0.92505	0.0:0.0:1.0:0.0	.	.	.	.	X	36;36;36;56;36	.	ENSP00000335290:Q36X	Q	-	1	0	PLTP	43973292	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.768000	0.47645	2.700000	0.92200	0.563000	0.77884	CAG	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.597	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	protein_coding	OTTHUMT00000354633.1	G	NM_006227	-		44539885	-1	no_errors	ENST00000542937	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	44539885	G	A	44539885	4	1	128	1	0	0	0	0	0	1	0	0	12116	1328	46	2	1431	2	PLTP	20	44539885	Nonsense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	8681443	44539885	18485635	325	9838											
ZMYND8	23613	genome.wustl.edu	37	chr20	45910883	45910883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcgggcatcgacctgccCgtctttatcccttagagctt	9	13	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:45910883C>T	ENST00000311275.7	-	10	1154	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.G328R|ZMYND8_ENST00000446994.2_Missense_Mutation_p.G238R|ZMYND8_ENST00000355972.4_Missense_Mutation_p.G301R|ZMYND8_ENST00000352431.2_Missense_Mutation_p.G321R|ZMYND8_ENST00000360911.3_Missense_Mutation_p.G296R|ZMYND8_ENST00000461685.1_Missense_Mutation_p.G321R|ZMYND8_ENST00000262975.4_Missense_Mutation_p.G301R|ZMYND8_ENST00000396281.4_Missense_Mutation_p.G301R|ZMYND8_ENST00000540497.1_Missense_Mutation_p.G296R|ZMYND8_ENST00000372023.3_Missense_Mutation_p.G296R|ZMYND8_ENST00000458360.2_Missense_Mutation_p.G296R|ZMYND8_ENST00000471951.2_Missense_Mutation_p.G321R	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	301	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGACCTGCCCGTCTTTATCC	0.448																																																	0								ENSG00000101040						109	108	108					20																	45910883		2203	4300	6503	ZMYND8	SO:0001583	missense	0			-	HGNC	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.901G>A	20.37:g.45910883C>T	ENSP00000312237:p.Gly301Arg	Somatic	0	75	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	52	34.18	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP							pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.G328R	ENST00000311275.7	37	c.982		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.997031|4.997031	0.93167|0.93167	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.72051|.	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62|.	6.03|6.03	5.1|5.1	0.69264|0.69264	PWWP (2);|.	0.147984|.	0.64402|.	N|.	0.000008|.	T|T	0.56499|0.56499	0.1989|0.1989	L|L	0.37630|0.37630	1.12|1.12	0.54753|0.54753	D|D	0.999987|0.999987	D;D;D;D;D;P;D;P;P;D;D;D;D;D;B;D;D|.	0.89917|.	0.999;0.995;1.0;1.0;1.0;0.695;1.0;0.923;0.526;1.0;1.0;1.0;1.0;1.0;0.427;0.992;0.992|.	D;P;D;D;D;B;D;B;B;D;D;D;D;D;B;P;P|.	0.79784|.	0.96;0.9;0.991;0.993;0.993;0.246;0.985;0.446;0.246;0.985;0.991;0.991;0.991;0.991;0.089;0.83;0.882|.	T|T	0.53272|0.53272	-0.8462|-0.8462	10|5	0.87932|.	D|.	0|.	-19.5952|-19.5952	13.5965|13.5965	0.61994|0.61994	0.0:0.9288:0.0:0.0712|0.0:0.9288:0.0:0.0712	.|.	296;328;296;296;295;321;301;296;321;321;301;238;296;296;321;296;301|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	R|Q	296;301;296;301;321;321;301;328;301;238;321;296;296|227	ENSP00000354166:G296R;ENSP00000312237:G301R;ENSP00000392964:G296R;ENSP00000262975:G301R;ENSP00000420095:G321R;ENSP00000335537:G321R;ENSP00000379577:G301R;ENSP00000439800:G328R;ENSP00000348246:G301R;ENSP00000396725:G238R;ENSP00000418210:G321R;ENSP00000361093:G296R;ENSP00000443086:G296R|.	ENSP00000262975:G301R|.	G|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45344290|45344290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	7.818000|7.818000	0.86416|0.86416	1.572000|1.572000	0.49736|0.49736	0.557000|0.557000	0.71058|0.71058	GGG|CGG	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.448	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	protein_coding	OTTHUMT00000079596.2	C	NM_183047	-		45910883	-1	no_errors	ENST00000536340	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45910883	C	T	45910883	3	4	128	1	0	0	0	0	1	0	0	0	17718	652	23	1	2661	1	ZMYND8	20	45910883	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1370998	45910883	17114637	326	9839											
KCNQ2	3785	genome.wustl.edu	37	chr20	62046292	62046292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgcggcacccttgatgcGgaaagcctggcgtgcccggc	15	14	0	2	rs540461827		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:62046292G>A	ENST00000359125.2	-	13	1663	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	KCNQ2_ENST00000359689.1_Missense_Mutation_p.R497C|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R469C|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R469C|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R479C|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R469C|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R467C	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	497					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)			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)	CCCTTGATGCGGAAAGCCTGG	0.677													G|||	1	0.000199681	0	0	5008	,	,		12203	0		0	False		,,,				2504	0.001																0								ENSG00000075043						68	78	74					20																	62046292		2203	4300	6503	KCNQ2	SO:0001583	missense	0			-	HGNC	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.1489C>T	20.37:g.62046292G>A	ENSP00000352035:p.Arg497Cys	Somatic	0	86	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R469C	ENST00000359125.2	37	c.1405	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917228	0.52546	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99741	-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6;-6.6	5.15	5.15	0.70609	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.063176	0.64402	D	0.000015	D	0.99597	0.9854	M	0.71206	2.165	0.80722	D	1	B;B;B;D	0.89917	0.14;0.14;0.268;1.0	B;B;B;D	0.65874	0.016;0.023;0.024;0.939	D	0.98096	1.0412	10	0.87932	D	0	0.0067	18.5933	0.91222	0.0:0.0:1.0:0.0	.	469;479;467;497	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	C	479;497;467;469;497;467;469;457;469;469	ENSP00000349789:R479C;ENSP00000352035:R497C;ENSP00000359246:R467C;ENSP00000346601:R469C;ENSP00000352718:R497C;ENSP00000399612:R467C;ENSP00000353668:R469C;ENSP00000339611:R457C;ENSP00000359244:R469C;ENSP00000359242:R469C	ENSP00000339611:R457C	R	-	1	0	KCNQ2	61516736	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	3.733000	0.55029	2.390000	0.81377	0.478000	0.44815	CGC	-	pfam_K_chnl_volt-dep_KCNQ_C		0.677	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	G	NM_172109	-		62046292	-1	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62046292	G	A	62046292	3	1	128	1	0	0	0	0	1	0	0	0	8085	1116	39	1	1149	1	KCNQ2	20	62046292	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	16135409	62046292	979228	327	9840											
TPD52L2	7165	genome.wustl.edu	37	chr20	62500659	62500659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctggcagatatcaacctGaattctcctaacaaaggtct	6	11	4	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:62500659G>A	ENST00000346249.4	+	2	106	c.30G>A	c.(28-30)ctG>ctA	p.L10L	TPD52L2_ENST00000351424.4_Silent_p.L10L|TPD52L2_ENST00000348257.5_Silent_p.L10L|TPD52L2_ENST00000352482.4_Silent_p.L10L|TPD52L2_ENST00000217121.5_Silent_p.L10L|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000358548.4_Silent_p.L10L	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	10					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ATATCAACCTGAATTCTCCTA	0.488																																																	0								ENSG00000101150						113	108	110					20																	62500659		2203	4300	6503	TPD52L2	SO:0001819	synonymous_variant	0			-	HGNC	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.30G>A	20.37:g.62500659G>A		Somatic	0	69	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Silent	SNP							pfam_TPD52	p.L10	ENST00000346249.4	37	c.30	CCDS13540.1	20																																																																																			-	NULL		0.488	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	protein_coding	OTTHUMT00000080248.1	G		-		62500659	1	no_errors	ENST00000217121	ensembl	human	known	74_37	silent	SNP	1.000	A	A	62500659	G	A	62500659	2	1	128	1	0	0	0	0	0	0	0	1	16406	1277	45	2		2	TPD52L2	20	62500659	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	454367	62500659	524861	328	9841											
PRPF6	57473	genome.wustl.edu	37	chr20	62632529	62632529	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctcccacagtctgtcaggAtttacatcagagccgcagag	9	12	4	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:62632529A>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.I375F			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTCTGTCAGGATTTACATCAG	0.577																																																	0								ENSG00000101161						94	79	84					20																	62632529		2203	4300	6503	PRPF6	SO:0001627	intron_variant	0			-	HGNC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-33221T>A	20.37:g.62632529A>T		Somatic	0	26	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q08AK9|Q9ULM4	Missense_Mutation	SNP							pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.I375F	ENST00000450537.1	37	c.1123	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328547	0.60743	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33438	1.41;1.41	5.52	4.43	0.53597	Tetratricopeptide-like helical (1);	0.095552	0.64402	D	0.000001	T	0.42063	0.1186	M	0.89287	3.02	0.80722	D	1	B;B	0.21147	0.052;0.003	B;B	0.28709	0.093;0.015	T	0.31971	-0.9924	10	0.37606	T	0.19	.	11.1883	0.48671	0.9282:0.0:0.0718:0.0	.	375;375	O94906-2;O94906	.;PRP6_HUMAN	F	375	ENSP00000266079:I375F;ENSP00000446216:I375F	ENSP00000266079:I375F	I	+	1	0	PRPF6	62102973	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.820000	0.69250	0.943000	0.37553	0.533000	0.62120	ATT	-	NULL		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	protein_coding	OTTHUMT00000080246.1	A	NM_020713	-		62632529	1	no_errors	ENST00000266079	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62632529	A	T	62632529	1	4	128	0	1	0	0	0	0	0	0	0	12579	333	12	5		5	PRPF6	20	62632529	Intron	SNP	A	TCGA-DX-AB32-01A-11D-A417-09	131870	62632529	392991	329	9842											
TCEA2	6919	genome.wustl.edu	37	chr20	62694686	62694686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgatgggcaaggaagaggaGattgcgcggatcgcccggag	18	7	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:62694686G>C	ENST00000343484.5	+	1	190	c.21G>C	c.(19-21)gaG>gaC	p.E7D	TCEA2_ENST00000395053.3_Missense_Mutation_p.E7D|TCEA2_ENST00000361317.2_Intron	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	7	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGGAAGAGGAGATTGCGCGGA	0.756																																																	0								ENSG00000171703						29	26	27					20																	62694686		2023	4011	6034	TCEA2	SO:0001583	missense	0			-	HGNC	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.21G>C	20.37:g.62694686G>C	ENSP00000343515:p.Glu7Asp	Somatic	0	30	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	2	75.00	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP							pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.E7D	ENST00000343484.5	37	c.21	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842364	0.71488	.	.	ENSG00000171703	ENST00000343484;ENST00000395053	.	.	.	3.21	3.21	0.36854	Transcription factor IIS, N-terminal (3);	0.215268	0.37669	U	0.001987	T	0.49966	0.1588	L	0.58101	1.795	0.44976	D	0.997994	B	0.33022	0.394	B	0.33521	0.165	T	0.53486	-0.8432	9	0.51188	T	0.08	-19.9239	7.5814	0.27967	0.1254:0.0:0.8746:0.0	.	7	Q15560	TCEA2_HUMAN	D	7	.	ENSP00000343515:E7D	E	+	3	2	TCEA2	62165130	0.987000	0.35691	1.000000	0.80357	0.460000	0.32559	1.364000	0.34171	1.601000	0.50113	0.313000	0.20887	GAG	-	superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII		0.756	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	protein_coding	OTTHUMT00000080277.2	G	NM_198723	-		62694686	1	no_errors	ENST00000343484	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62694686	G	C	62694686	3	2	128	1	0	0	0	0	1	0	0	0	15675	933	33	4	23	4	TCEA2	20	62694686	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	62157	62694686	330834	330	9843											
TCEA2	6919	genome.wustl.edu	37	chr20	62694711	62694711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcggatcgcccggaggctgGacaagatggtgaccaagaag	16	10	0	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr20:62694711G>A	ENST00000343484.5	+	1	215	c.46G>A	c.(46-48)Gac>Aac	p.D16N	TCEA2_ENST00000395053.3_Missense_Mutation_p.D16N|TCEA2_ENST00000361317.2_Intron	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	16	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCGGAGGCTGGACAAGATGGT	0.746																																																	0								ENSG00000171703						28	26	26					20																	62694711		2020	4000	6020	TCEA2	SO:0001583	missense	0			-	HGNC	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.46G>A	20.37:g.62694711G>A	ENSP00000343515:p.Asp16Asn	Somatic	0	31	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	3	66.67	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP							pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.D16N	ENST00000343484.5	37	c.46	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701220	0.88924	.	.	ENSG00000171703	ENST00000343484;ENST00000395053	.	.	.	3.3	3.3	0.37823	Transcription factor IIS, N-terminal (3);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.065404	0.64402	U	0.000016	T	0.46908	0.1417	L	0.43646	1.37	0.51767	D	0.999938	P	0.36577	0.558	B	0.33620	0.167	T	0.48445	-0.9035	9	0.33141	T	0.24	-20.3337	13.495	0.61421	0.0:0.0:1.0:0.0	.	16	Q15560	TCEA2_HUMAN	N	16	.	ENSP00000343515:D16N	D	+	1	0	TCEA2	62165155	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.440000	0.73435	1.646000	0.50622	0.313000	0.20887	GAC	-	superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel,tigrfam_TFSII		0.746	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	protein_coding	OTTHUMT00000080277.2	G	NM_198723	-		62694711	1	no_errors	ENST00000343484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62694711	G	A	62694711	3	1	128	1	0	0	0	0	1	0	0	0	15675	1174	41	2	48	2	TCEA2	20	62694711	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	25	62694711	330809	331	9844											
SYNJ1	8867	genome.wustl.edu	37	chr21	34060616	34060616	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtaaaaattgtcttacCtgtcaaaagcaggtgcattg	8	7	2	0	rs565013600	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr21:34060616C>A	ENST00000322229.7	-	6	850	c.851G>T	c.(850-852)aGg>aTg	p.R284M	SYNJ1_ENST00000433931.2_Splice_Site_p.R323M|SYNJ1_ENST00000357345.3_Splice_Site_p.R284M|SYNJ1_ENST00000382491.3_Splice_Site_p.R284M|SYNJ1_ENST00000382499.2_Splice_Site_p.R323M			O43426	SYNJ1_HUMAN	synaptojanin 1	284	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						ATTGTCTTACCTGTCAAAAGC	0.348																																																	0								ENSG00000159082						76	64	68					21																	34060616		2203	4300	6503	SYNJ1	SO:0001630	splice_region_variant	0			-	HGNC	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.851+1G>T	21.37:g.34060616C>A		Somatic	0	62	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	40	31.03	O43425|O94984|Q4KMR1	Missense_Mutation	SNP							pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.R323M	ENST00000322229.7	37	c.968	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.311300	0.95655	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	6.16	6.16	0.99307	Synaptojanin, N-terminal (2);	0.038124	0.85682	D	0.000000	T	0.79953	0.4535	M	0.82193	2.58	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;0.997;0.998;0.997;0.996	T	0.78510	-0.2176	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	284;323;284;284;284	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	M	284;284;323;323;284;284	ENSP00000371931:R284M;ENSP00000349903:R284M;ENSP00000371939:R323M;ENSP00000409667:R323M;ENSP00000322234:R284M;ENSP00000413649:R284M	.	R	-	2	0	SYNJ1	32982487	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.193000	0.77780	2.937000	0.99478	0.650000	0.86243	AGG	-	pfam_Syja_N,pfscan_Syja_N		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	protein_coding		C		-	Missense_Mutation	34060616	-1	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34060616	C	A	34060616	5	1	128	1	0	0	0	0	0	0	1	0	15459	695	24	3	4008	3	SYNJ1	21	34060616	Splice_Site	SNP	C	TCGA-DX-AB32-01A-11D-A417-09		34060616	14069279	332	9845											
MORC3	23515	genome.wustl.edu	37	chr21	37741473	37741473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatcagaacagagtcacGttgagcaaggtggtgttcag	13	6	3	4	rs545559328		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr21:37741473G>A	ENST00000400485.1	+	15	1883	c.1807G>A	c.(1807-1809)Gtt>Att	p.V603I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	603					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)			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						ACAGAGTCACGTTGAGCAAGG	0.458																																																	0								ENSG00000159256						246	239	242					21																	37741473		2155	4263	6418	MORC3	SO:0001583	missense	0			-	HGNC	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.1807G>A	21.37:g.37741473G>A	ENSP00000383333:p.Val603Ile	Somatic	0	61	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	A8KA92|Q9UEZ2	Missense_Mutation	SNP							pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.V603I	ENST00000400485.1	37	c.1807	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	4.044	0.005812	0.07866	.	.	ENSG00000159256	ENST00000400485	T	0.13901	2.55	5.73	-11.5	0.00074	.	1.749840	0.02487	N	0.089111	T	0.04048	0.0113	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	10	0.24483	T	0.36	1.8841	6.5023	0.22176	0.1772:0.2118:0.4688:0.1423	.	603	Q14149	MORC3_HUMAN	I	603	ENSP00000383333:V603I	ENSP00000383333:V603I	V	+	1	0	MORC3	36663343	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-3.386000	0.00489	-2.739000	0.00380	-0.658000	0.03865	GTT	-	NULL		0.458	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	protein_coding	OTTHUMT00000194640.1	G	NM_015358	-		37741473	1	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	SNP	0.000	A	A	37741473	G	A	37741473	3	1	128	1	0	0	0	0	1	0	0	0	9705	1145	40	1	1865	1	MORC3	21	37741473	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	3680857	37741473	10388422	333	9846											
CCDC116	164592	genome.wustl.edu	37	chr22	21988606	21988606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccaagtggtggacggcGggcacatgcccggcccagcc	17	14	0	0	rs566751888		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:21988606G>A	ENST00000292779.3	+	3	529	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	CCDC116_ENST00000607942.1_Missense_Mutation_p.R123Q	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	123										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGTGGACGGCGGGCACATGCC	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		15415	0		0	False		,,,				2504	0																0								ENSG00000161180						89	85	86					22																	21988606		2203	4300	6503	CCDC116	SO:0001583	missense	0			-	HGNC	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.368G>A	22.37:g.21988606G>A	ENSP00000292779:p.Arg123Gln	Somatic	0	52	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	Q8N9Y9	Missense_Mutation	SNP							NULL	p.R123Q	ENST00000292779.3	37	c.368	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996109	0.35226	.	.	ENSG00000161180	ENST00000292779	T	0.21361	2.01	4.42	-0.429	0.12303	.	0.170908	0.28021	N	0.016905	T	0.14830	0.0358	L	0.46157	1.445	0.09310	N	1	P;D	0.55172	0.887;0.97	B;B	0.43754	0.142;0.43	T	0.14035	-1.0487	9	.	.	.	-60.2949	3.1411	0.06456	0.3154:0.0:0.4969:0.1877	.	123;123	B7Z7H5;Q8IYX3-2	.;.	Q	123	ENSP00000292779:R123Q	.	R	+	2	0	CCDC116	20318606	0.001000	0.12720	0.002000	0.10522	0.023000	0.10783	0.844000	0.27654	0.221000	0.20879	0.491000	0.48974	CGG	-	NULL		0.667	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	protein_coding	OTTHUMT00000320199.1	G	NM_152612	-		21988606	1	no_errors	ENST00000292779	ensembl	human	known	74_37	missense	SNP	0.000	A	A	21988606	G	A	21988606	3	1	128	1	0	0	0	0	1	0	0	0	2755	1116	39	1	374	1	CCDC116	22	21988606	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09		21988606	29315960	334	9847											
TOP3B	8940	genome.wustl.edu	37	chr22	22313572	22313572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctgtggccgccagggGcgagaaagacacctccatca	12	14	1	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:22313572G>A	ENST00000398793.2	-	16	2271	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S	TOP3B_ENST00000357179.5_Missense_Mutation_p.P613S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	613					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)			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)		GCCGCCAGGGGCGAGAAAGAC	0.602																																																	0								ENSG00000100038						122	104	110					22																	22313572		2203	4300	6503	TOP3B	SO:0001583	missense	0			-	HGNC	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.1837C>T	22.37:g.22313572G>A	ENSP00000381773:p.Pro613Ser	Somatic	0	32	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A0M8Q3|Q9BUP5	Missense_Mutation	SNP							pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.P613S	ENST00000398793.2	37	c.1837	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443976	0.63067	.	.	ENSG00000100038	ENST00000357179;ENST00000398793	T;T	0.22945	1.93;1.93	5.1	5.1	0.69264	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.41824	1.3	0.80722	D	1	B;B;B	0.15473	0.004;0.012;0.013	B;B;B	0.21917	0.011;0.016;0.037	T	0.02925	-1.1093	10	0.32370	T	0.25	.	18.692	0.91586	0.0:0.0:1.0:0.0	.	158;613;613	B3KU89;O95985;O95985-2	.;TOP3B_HUMAN;.	S	613	ENSP00000349705:P613S;ENSP00000381773:P613S	ENSP00000349705:P613S	P	-	1	0	TOP3B	20643572	1.000000	0.71417	0.966000	0.40874	0.903000	0.53119	9.152000	0.94680	2.643000	0.89663	0.655000	0.94253	CCC	-	superfamily_Topo_IA_core_domain		0.602	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	protein_coding	OTTHUMT00000320251.1	G	NM_003935	-		22313572	-1	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22313572	G	A	22313572	3	1	128	1	0	0	0	0	1	0	0	0	16375	1203	42	2	763	2	TOP3B	22	22313572	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	324966	22313572	28990994	335	9848											
HPS4	89781	genome.wustl.edu	37	chr22	26860178	26860178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgtcctggatctaagCgaggcaataacaagggcctg	11	11	2	0	rs139039617		TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:26860178C>T	ENST00000398145.2	-	11	2034	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	HPS4_ENST00000398141.1_Missense_Mutation_p.R486H|HPS4_ENST00000336873.5_Missense_Mutation_p.R473H|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.R468H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	473					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGATCTAAGCGAGGCAATAA	0.592									Hermansky-Pudlak syndrome																																								0								ENSG00000100099	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	133	130	131		1418,1403	-1.5	0	22	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HPS4	NM_022081.4,NM_152841.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	473/709,468/704	26860178	1,13005	2203	4300	6503	HPS4	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	-	HGNC		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1418G>A	22.37:g.26860178C>T	ENSP00000381213:p.Arg473His	Somatic	0	32	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP							NULL	p.R486H	ENST00000398145.2	37	c.1457	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170889	0.21621	0.0	1.16E-4	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.32515	1.46;1.45;1.46;1.46	4.23	-1.51	0.08664	.	1.692980	0.02694	N	0.110997	T	0.18215	0.0437	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.003;0.002;0.003;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.002	T	0.11494	-1.0585	9	.	.	.	0.4393	2.5995	0.04863	0.4054:0.283:0.0:0.3116	.	473;473;473;473;486;468	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	H	473;486;468;473	ENSP00000381213:R473H;ENSP00000381210:R486H;ENSP00000384185:R468H;ENSP00000338457:R473H	.	R	-	2	0	HPS4	25190178	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.973000	0.01500	-0.018000	0.14079	-1.251000	0.01509	CGC	-	NULL		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	protein_coding	OTTHUMT00000320778.1	C	NM_022081	rs139039617		26860178	-1	no_errors	ENST00000398141	ensembl	human	known	74_37	missense	SNP	0.000	T	T	26860178	C	T	26860178	3	4	128	1	0	0	0	0	1	0	0	0	7343	768	27	1	724	1	HPS4	22	26860178	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	4546606	26860178	24444388	336	9849											
RFPL1	5988	genome.wustl.edu	37	chr22	29837909	29837909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggggatttttctggataTgggcatgcagaacgtttcct	13	6	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:29837909T>C	ENST00000354373.2	+	2	961	c.752T>C	c.(751-753)aTg>aCg	p.M251T	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	251	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTTCTGGATATGGGCATGCAG	0.507																																																	0								ENSG00000128250						145	114	125					22																	29837909		2203	4300	6503	RFPL1	SO:0001583	missense	0			-	HGNC	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.752T>C	22.37:g.29837909T>C	ENSP00000346342:p.Met251Thr	Somatic	0	146	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	117	23.87	Q6IC06|Q9UJ97	Missense_Mutation	SNP							pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.M251T	ENST00000354373.2	37	c.752	CCDS13857.2	22	.	.	.	.	.	.	.	.	.	.	T	9.392	1.075667	0.20227	.	.	ENSG00000128250	ENST00000354373	T	0.60797	0.16	1.42	1.42	0.22433	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.51550	0.1681	M	0.69823	2.125	0.21184	N	0.999766	B	0.26318	0.146	B	0.25987	0.065	T	0.51803	-0.8659	9	0.62326	D	0.03	.	3.792	0.08724	0.3302:0.0:0.0:0.6698	.	251	O75677	RFPL1_HUMAN	T	251	ENSP00000346342:M251T	ENSP00000346342:M251T	M	+	2	0	RFPL1	28167909	0.719000	0.27986	0.031000	0.17742	0.304000	0.27724	1.855000	0.39378	0.563000	0.29222	0.164000	0.16699	ATG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.507	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1	protein_coding	OTTHUMT00000318719.1	T	NM_021026	-		29837909	1	no_errors	ENST00000354373	ensembl	human	known	74_37	missense	SNP	0.857	C	C	29837909	T	C	29837909	3	2	128	1	0	0	0	0	1	0	0	0	13261	1464	51	5	758	5	RFPL1	22	29837909	Missense_Mutation	SNP	T	TCGA-DX-AB32-01A-11D-A417-09	2977731	29837909	21466657	337	9850											
MYH9	4627	genome.wustl.edu	37	chr22	36737437	36737437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcatactcctgtaggcGgtgtctgtgatggcatagat	12	8	2	2			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:36737437G>A	ENST00000216181.5	-	3	698	c.468C>T	c.(466-468)acC>acT	p.T156T	MYH9_ENST00000401701.1_Silent_p.T156T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	156	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.T156T(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTGTAGGCGGTGTCTGTGA	0.527			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000100345						188	145	160					22																	36737437		2203	4300	6503	MYH9	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.468C>T	22.37:g.36737437G>A		Somatic	0	45	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T156	ENST00000216181.5	37	c.468	CCDS13927.1	22																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	G	NM_002473	-		36737437	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	SNP	0.890	A	A	36737437	G	A	36737437	2	1	128	1	0	0	0	0	0	0	0	1	10044	1103	39	1		1	MYH9	22	36737437	Silent	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	6899528	36737437	14567129	338	9851											
TRIOBP	11078	genome.wustl.edu	37	chr22	38167666	38167666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatatccccaggtgctgcttCgcgtaaaagaaaacgaactc	8	11	0	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:38167666C>T	ENST00000406386.3	+	22	7114	c.6859C>T	c.(6859-6861)Cgc>Tgc	p.R2287C	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R574C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2287					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGTGCTGCTTCGCGTAAAAGA	0.597																																																	0								ENSG00000100106						64	67	66					22																	38167666		1965	4158	6123	TRIOBP	SO:0001583	missense	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6859C>T	22.37:g.38167666C>T	ENSP00000384312:p.Arg2287Cys	Somatic	0	50	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R2287C	ENST00000406386.3	37	c.6859	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205997	0.58234	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.39592	1.07	5.09	5.09	0.68999	.	.	.	.	.	T	0.64875	0.2638	M	0.68593	2.085	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;0.998;0.997;0.999	T	0.67647	-0.5617	9	0.87932	D	0	.	18.6944	0.91594	0.0:1.0:0.0:0.0	.	2189;276;574;2287	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	C	2287;574	ENSP00000384312:R2287C	ENSP00000386026:R574C	R	+	1	0	TRIOBP	36497612	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	1.993000	0.40747	2.648000	0.89879	0.561000	0.74099	CGC	-	NULL		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	C		-		38167666	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38167666	C	T	38167666	3	4	128	1	0	0	0	0	1	0	0	0	16560	884	31	1	7239	1	TRIOBP	22	38167666	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1430229	38167666	13136900	339	9852											
CACNA1I	8911	genome.wustl.edu	37	chr22	40077043	40077043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcctgcccacctggcCgcaaagacagcaaggtcagc	10	17	1	1	rs183581233	byFrequency	TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chr22:40077043C>T	ENST00000402142.3	+	34	5650	c.5650C>T	c.(5650-5652)Cgc>Tgc	p.R1884C	CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1890C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1884C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1849C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1849C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1849C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1884					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCACCTGGCCGCAAAGACAG	0.652													C|||	2	0.000399361	0	0.0014	5008	,	,		19431	0.001		0	False		,,,				2504	0																0								ENSG00000100346																																			CACNA1I	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5650C>T	22.37:g.40077043C>T	ENSP00000385019:p.Arg1884Cys	Somatic	0	67	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1890C	ENST00000402142.3	37	c.5668	CCDS46710.1	22	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.786	0.929438	0.18131	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96967	-4.16;-4.13;-4.16;-4.13;-4.19;-4.09	4.29	-2.01	0.07410	.	.	.	.	.	D	0.89687	0.6787	N	0.22421	0.69	0.25893	N	0.983441	B;B;B;B	0.32653	0.0;0.379;0.0;0.0	B;B;B;B	0.33890	0.0;0.172;0.0;0.0	T	0.82892	-0.0232	9	0.51188	T	0.08	.	1.9367	0.03338	0.1397:0.4743:0.1363:0.2497	.	1849;1884;1849;1884	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	1884;1849;1884;1849;1890;1849	ENSP00000385019:R1884C;ENSP00000384093:R1849C;ENSP00000383887:R1884C;ENSP00000385680:R1849C;ENSP00000337829:R1890C;ENSP00000383028:R1849C	ENSP00000337829:R1890C	R	+	1	0	CACNA1I	38406989	0.047000	0.20315	0.791000	0.31998	0.100000	0.18952	0.269000	0.18589	0.057000	0.16193	0.561000	0.74099	CGC	-	NULL		0.652	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	C	NM_001003406	rs183581233		40077043	1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	SNP	0.840	T	T	40077043	C	T	40077043	3	4	128	1	0	0	0	0	1	0	0	0	2548	652	23	1	5784	1	CACNA1I	22	40077043	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	1909377	40077043	11227523	340	9853											
CSF2RA	1438	genome.wustl.edu	37	chrX	1407438	1407438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaacgaatgttcgtgcacAtttcgtgaaatttgtctgca	8	8	1	1			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chrX:1407438A>G	ENST00000381524.3	+	5	432	c.246A>G	c.(244-246)acA>acG	p.T82T	CSF2RA_ENST00000381500.1_Silent_p.T82T|CSF2RA_ENST00000417535.2_Silent_p.T82T|CSF2RA_ENST00000432318.2_Silent_p.T82T|CSF2RA_ENST00000361536.3_Silent_p.T82T|CSF2RA_ENST00000381529.3_Silent_p.T82T|CSF2RA_ENST00000381509.3_Silent_p.T82T|CSF2RA_ENST00000355805.2_Silent_p.T82T|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Silent_p.T82T|CSF2RA_ENST00000494969.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	82					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GTTCGTGCACATTTCGTGAAA	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0								ENSG00000198223						369	338	348					X																	1407438		2203	4296	6499	CSF2RA	SO:0001819	synonymous_variant	0			-	HGNC	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.246A>G	X.37:g.1407438A>G		Somatic	0	115	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	98	30.99	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.T82	ENST00000381524.3	37	c.246	CCDS35191.1	X																																																																																			-	NULL		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	protein_coding	OTTHUMT00000035013.2	A		-		1407438	1	no_errors	ENST00000417535	ensembl	human	known	74_37	silent	SNP	0.002	G	G	1407438	A	G	1407438	2	3	128	1	0	0	0	0	0	0	0	1	3936	204	8	5		5	CSF2RA	23	1407438	Silent	SNP	A	TCGA-DX-AB32-01A-11D-A417-09		1407438	153863122	341	9854											
ZMYM3	9203	genome.wustl.edu	37	chrX	70464289	70464289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatggagtcccgggagCagctttcggaaagcaccagc	13	12	1	0			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chrX:70464289C>T	ENST00000353904.2	-	20	3330	c.3143G>A	c.(3142-3144)tGc>tAc	p.C1048Y	ZMYM3_ENST00000373984.3_Missense_Mutation_p.C1050Y|ZMYM3_ENST00000373998.1_Missense_Mutation_p.C1036Y|ZMYM3_ENST00000373988.1_Missense_Mutation_p.C1050Y|ZMYM3_ENST00000314425.5_Missense_Mutation_p.C1048Y|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1048					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCCCGGGAGCAGCTTTCGGA	0.537																																																	0								ENSG00000147130						49	40	43					X																	70464289		2203	4300	6503	ZMYM3	SO:0001583	missense	0			-	HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3143G>A	X.37:g.70464289C>T	ENSP00000343909:p.Cys1048Tyr	Somatic	0	46	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.C1050Y	ENST00000353904.2	37	c.3149	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	15.01	2.704848	0.48412	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43688	1.53;0.94;1.53;1.53;1.53	5.09	5.09	0.68999	.	0.172800	0.45126	D	0.000381	T	0.31358	0.0794	N	0.08118	0	0.36177	D	0.849168	P;P	0.46784	0.884;0.815	P;B	0.44921	0.464;0.274	T	0.48703	-0.9012	10	0.59425	D	0.04	-7.7434	17.6344	0.88118	0.0:1.0:0.0:0.0	.	1036;1048	Q14202-2;Q14202	.;ZMYM3_HUMAN	Y	1048;1036;1048;1050;1050	ENSP00000322845:C1048Y;ENSP00000363110:C1036Y;ENSP00000343909:C1048Y;ENSP00000363096:C1050Y;ENSP00000363100:C1050Y	ENSP00000322845:C1048Y	C	-	2	0	ZMYM3	70381014	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.085000	0.64468	2.350000	0.79820	0.529000	0.55759	TGC	-	NULL		0.537	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	C	NM_201599	-		70464289	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70464289	C	T	70464289	3	4	128	1	0	0	0	0	1	0	0	0	17708	710	25	2	993	2	ZMYM3	23	70464289	Missense_Mutation	SNP	C	TCGA-DX-AB32-01A-11D-A417-09	69056851	70464289	84806271	342	9855											
MAGEE1	57692	genome.wustl.edu	37	chrX	75650976	75650976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acttgagtcagcgctatataGacagtttacgggttcctgac	10	9	1	3			TCGA-DX-AB32-01A-11D-A417-09	TCGA-DX-AB32-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec03515c-a013-4a2d-82e0-8a2b4cd25321	5706f461-3e8d-4d11-99cd-adb6d97ae6ca	g.chrX:75650976G>T	ENST00000361470.2	+	1	2931	c.2653G>T	c.(2653-2655)Gac>Tac	p.D885Y		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	885	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCGCTATATAGACAGTTTACG	0.498																																																	0								ENSG00000198934						77	69	72					X																	75650976		2203	4300	6503	MAGEE1	SO:0001583	missense	0			-	HGNC	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2653G>T	X.37:g.75650976G>T	ENSP00000354912:p.Asp885Tyr	Somatic	0	37	0		0.60215964641258				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.D885Y	ENST00000361470.2	37	c.2653	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123593	0.37436	.	.	ENSG00000198934	ENST00000361470	T	0.05139	3.49	2.52	1.64	0.23874	.	.	.	.	.	T	0.13798	0.0334	L	0.43152	1.355	0.27818	N	0.94189	D	0.89917	1.0	D	0.81914	0.995	T	0.11542	-1.0583	9	0.87932	D	0	.	4.6653	0.12662	0.1915:0.0:0.8085:0.0	.	885	Q9HCI5	MAGE1_HUMAN	Y	885	ENSP00000354912:D885Y	ENSP00000354912:D885Y	D	+	1	0	MAGEE1	75567380	1.000000	0.71417	0.894000	0.35097	0.972000	0.66771	2.592000	0.46171	0.465000	0.27167	0.600000	0.82982	GAC	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	protein_coding	OTTHUMT00000057298.1	G	NM_020932	-		75650976	1	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	SNP	0.883	T	T	75650976	G	T	75650976	3	4	128	1	0	0	0	0	1	0	0	0	9187	942	33	3	2655	3	MAGEE1	23	75650976	Missense_Mutation	SNP	G	TCGA-DX-AB32-01A-11D-A417-09	5186687	75650976	79619584	343	9856											
C1QA	712	genome.wustl.edu	37	chr1	22965616	22965616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccactccggccgattcGtctgcactgtacccggctac	9	16	1	1	rs201517118		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:22965616G>A	ENST00000374642.3	+	3	658	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	C1QA_ENST00000402322.1_Missense_Mutation_p.V152I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	152	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGGCCGATTCGTCTGCACTGT	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		17525	0		0	False		,,,				2504	0																0								ENSG00000173372						89	80	83					1																	22965616		2203	4300	6503	C1QA	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.454G>A	1.37:g.22965616G>A	ENSP00000363773:p.Val152Ile	Somatic	0	29	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	B2R4X2|Q5T963	Missense_Mutation	SNP							pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.V152I	ENST00000374642.3	37	c.454	CCDS226.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.569	-0.087984	0.07097	.	.	ENSG00000173372	ENST00000374642;ENST00000438241;ENST00000402322	T;T;T	0.21932	1.98;1.98;1.98	5.67	-7.39	0.01402	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	T	0.07593	0.0191	N	0.10664	0.02	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42015	-0.9476	9	0.13470	T	0.59	-2.0698	8.5141	0.33235	0.5673:0.3111:0.1216:0.0	.	152	P02745	C1QA_HUMAN	I	152	ENSP00000363773:V152I;ENSP00000416841:V152I;ENSP00000385564:V152I	ENSP00000363773:V152I	V	+	1	0	C1QA	22838203	0.031000	0.19500	0.055000	0.19348	0.034000	0.12701	-0.598000	0.05706	-1.288000	0.02378	0.561000	0.74099	GTC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QA	protein_coding	OTTHUMT00000008087.2	G	NM_015991	rs201517118		22965616	1	no_errors	ENST00000374642	ensembl	human	known	74_37	missense	SNP	0.087	A	A	22965616	G	A	22965616	3	1	129	1	0	0	0	0	1	0	0	0	1956	1145	40	1	460	1	C1QA	1	22965616	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		22965616	226285005	1	9857											
C1orf173	127254	genome.wustl.edu	37	chr1	75097467	75097467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctccttctccatgtttcaGatctattttctcttgtgatt	4	10	5	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:75097467G>C	ENST00000326665.5	-	7	967	c.749C>G	c.(748-750)tCt>tGt	p.S250C	C1orf173_ENST00000420661.2_Missense_Mutation_p.S53C	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		250								p.S250Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCATGTTTCAGATCTATTTTC	0.373																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000178965						189	171	177					1																	75097467		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.749C>G	1.37:g.75097467G>C	ENSP00000322609:p.Ser250Cys	Somatic	0	35	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	30	43.40	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP							NULL	p.S250C	ENST00000326665.5	37	c.749	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	7.573	0.667156	0.14710	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19394	2.61;2.15	5.39	1.88	0.25563	.	.	.	.	.	T	0.08758	0.0217	L	0.29908	0.895	0.09310	N	1	D;D	0.63046	0.984;0.992	P;P	0.53146	0.639;0.719	T	0.12192	-1.0557	9	0.56958	D	0.05	0.1152	1.6943	0.02859	0.3545:0.1324:0.3782:0.1349	.	53;250	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	C	250;53	ENSP00000322609:S250C;ENSP00000398581:S53C	ENSP00000322609:S250C	S	-	2	0	C1orf173	74870055	0.000000	0.05858	0.026000	0.17262	0.021000	0.10359	-0.021000	0.12504	0.592000	0.29728	0.650000	0.86243	TCT	-	NULL		0.373	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	G		-		75097467	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.000	C	C	75097467	G	C	75097467	3	2	129	1	0	0	0	0	1	0	0	0	2016	942	33	4	3875	4	C1orf173	1	75097467	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	52131851	75097467	174153154	2	9858											
ZZZ3	26009	genome.wustl.edu	37	chr1	78044547	78044547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatacttctgtactcggCtggcaacctaaggaaacatg	9	9	1	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:78044547C>T	ENST00000370801.3	-	11	2565	c.2090G>A	c.(2089-2091)aGc>aAc	p.S697N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	697	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTACTCGGCTGGCAACCTA	0.343																																																	0								ENSG00000036549						66	67	66					1																	78044547		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2090G>A	1.37:g.78044547C>T	ENSP00000359837:p.Ser697Asn	Somatic	0	33	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S697N	ENST00000370801.3	37	c.2090	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.125906	0.94429	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.49139	0.79;0.79	5.84	5.84	0.93424	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.040117	0.85682	D	0.000000	T	0.67804	0.2932	M	0.77616	2.38	0.80722	D	1	P;D;P	0.89917	0.557;1.0;0.787	B;D;P	0.91635	0.295;0.999;0.526	T	0.67304	-0.5704	10	0.59425	D	0.04	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	203;697;696	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	697;203	ENSP00000359837:S697N;ENSP00000359834:S203N	ENSP00000359834:S203N	S	-	2	0	ZZZ3	77817135	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.378000	0.79679	2.937000	0.99478	0.650000	0.86243	AGC	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	C	NM_015534	-		78044547	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78044547	C	T	78044547	3	4	129	1	0	0	0	0	1	0	0	0	18263	797	28	2	641	2	ZZZ3	1	78044547	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	2947080	78044547	171206074	3	9859											
OBSCN	84033	genome.wustl.edu	37	chr1	228509624	228509624	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagtccggctgaagtttcaGatgaggagctcttcctgagt	12	8	2	4			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:228509624G>T	ENST00000422127.1	+	55	15126	c.15082G>T	c.(15082-15084)Gat>Tat	p.D5028Y	OBSCN_ENST00000570156.2_Missense_Mutation_p.D5985Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2147Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2662Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D5028Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5028					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)				TGAAGTTTCAGATGAGGAGCT	0.632																																																	0								ENSG00000154358						21	23	22					1																	228509624		1921	4114	6035	OBSCN	SO:0001583	missense	0			-	HGNC	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.15082G>T	1.37:g.228509624G>T	ENSP00000409493:p.Asp5028Tyr	Somatic	0	32	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.D5028Y	ENST00000422127.1	37	c.15082	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779947	0.70222	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66280	0.2;-0.2;-0.11;0.36	5.07	5.07	0.68467	.	0.229124	0.30219	N	0.010121	T	0.69251	0.3090	L	0.27053	0.805	0.51767	D	0.999936	D;D	0.76494	0.999;0.999	D;D	0.68483	0.909;0.958	T	0.72104	-0.4391	10	0.52906	T	0.07	.	18.4625	0.90745	0.0:0.0:1.0:0.0	.	5028;5028	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	5028;5028;2662;2147	ENSP00000284548:D5028Y;ENSP00000409493:D5028Y;ENSP00000355668:D2662Y;ENSP00000355670:D2147Y	ENSP00000284548:D5028Y	D	+	1	0	OBSCN	226576247	1.000000	0.71417	0.035000	0.18076	0.075000	0.17131	6.624000	0.74243	2.359000	0.80004	0.655000	0.94253	GAT	-	NULL		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228509624	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.992	T	T	228509624	G	T	228509624	3	4	129	1	0	0	0	0	1	0	0	0	10814	942	33	3	15296	3	OBSCN	1	228509624	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	150465077	228509624	20740997	4	9860											
OR2T2	401992	genome.wustl.edu	37	chr1	248616711	248616711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgatgtatgcctgctgcGtgctgatgctgcttatccct	10	13	0	2	rs199823862		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:248616711G>A	ENST00000342927.3	+	1	635	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TGCCTGCTGCGTGCTGATGCT	0.527																																																	0								ENSG00000196240						126	88	101					1																	248616711		2194	4265	6459	OR2T2	SO:0001583	missense	0			-	HGNC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.613G>A	1.37:g.248616711G>A	ENSP00000343062:p.Val205Met	Somatic	0	9	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	2	77.78	B2RNM1|B9EH01	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V205M	ENST00000342927.3	37	c.613	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	g	8.304	0.820618	0.16678	.	.	ENSG00000196240	ENST00000342927	T	0.41065	1.01	3.72	0.777	0.18538	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000579	T	0.40119	0.1104	M	0.71871	2.18	0.09310	N	1	D	0.58970	0.984	P	0.44477	0.451	T	0.37888	-0.9686	10	0.87932	D	0	.	6.9421	0.24498	0.4061:0.0:0.5939:0.0	.	205	Q6IF00	OR2T2_HUMAN	M	205	ENSP00000343062:V205M	ENSP00000343062:V205M	V	+	1	0	OR2T2	246683334	0.000000	0.05858	0.234000	0.24042	0.031000	0.12232	-0.402000	0.07223	-0.015000	0.14150	-0.403000	0.06358	GTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	protein_coding	OTTHUMT00000097421.1	G	NM_001004136	-		248616711	1	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	SNP	0.001	A	A	248616711	G	A	248616711	3	1	129	1	0	0	0	0	1	0	0	0	11022	1145	40	1	615	1	OR2T2	1	248616711	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	20107087	248616711	633910	5	9861											
ANTXR1	84168	genome.wustl.edu	37	chr2	69420546	69420546	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccacagccaggagacaCggtaggactcgttaattcat	11	11	1	1	rs369137693		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:69420546C>A	ENST00000303714.4	+	17	1755	c.1433C>A	c.(1432-1434)aCg>aAg	p.T478K		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	478					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCAGGAGACACGGTAGGACTC	0.448									Familial Infantile Hemangioma																																								0								ENSG00000169604						167	155	159					2																	69420546		2203	4300	6503	ANTXR1	SO:0001630	splice_region_variant	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	-	HGNC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1434+1C>A	2.37:g.69420546C>A		Somatic	0	34	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP							pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T478K	ENST00000303714.4	37	c.1433	CCDS1892.1	2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938262	0.34189	.	.	ENSG00000169604	ENST00000303714	T	0.74002	-0.8	5.48	4.57	0.56435	Anthrax toxin receptor, C-terminal (2);	0.094419	0.64402	D	0.000001	T	0.29223	0.0727	N	0.00128	-2.045	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54221	-0.8326	10	0.02654	T	1	-15.1396	9.0587	0.36421	0.2446:0.621:0.1344:0.0	.	478	Q9H6X2	ANTR1_HUMAN	K	478	ENSP00000301945:T478K	ENSP00000301945:T478K	T	+	2	0	ANTXR1	69274050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.853000	0.55941	2.861000	0.98227	0.650000	0.86243	ACG	-	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C		0.448	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	protein_coding	OTTHUMT00000251770.2	C	NM_032208	-	Missense_Mutation	69420546	1	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69420546	C	A	69420546	5	1	129	1	0	0	0	0	0	0	1	0	711	550	19	3	1576	3	ANTXR1	2	69420546	Splice_Site	SNP	C	TCGA-DX-AB35-01A-21D-A417-09		69420546	173778827	6	9862											
KCNJ3	3760	genome.wustl.edu	37	chr2	155555781	155555781	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcatcctcttcctcttccAgtccatcctgggctccatcg	5	18	3	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:155555781A>T	ENST00000295101.2	+	1	971	c.494A>T	c.(493-495)cAg>cTg	p.Q165L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.Q165L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	165					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCCTCTTCCAGTCCATCCTG	0.577																																																	0								ENSG00000162989						103	83	90					2																	155555781		2203	4300	6503	KCNJ3	SO:0001583	missense	0			-	HGNC	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.494A>T	2.37:g.155555781A>T	ENSP00000295101:p.Gln165Leu	Somatic	0	19	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	2	75.00	B4DEW7|Q8TBI0	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir	p.Q165L	ENST00000295101.2	37	c.494	CCDS2200.1	2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141353	0.77775	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.96232	-3.95;-3.95	5.4	5.4	0.78164	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.993	D	0.99457	1.0942	10	0.87932	D	0	.	14.2459	0.65988	1.0:0.0:0.0:0.0	.	165;165	B4DEW7;P48549	.;IRK3_HUMAN	L	165	ENSP00000295101:Q165L;ENSP00000438410:Q165L	ENSP00000295101:Q165L	Q	+	2	0	KCNJ3	155264027	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.269000	0.95684	2.048000	0.60808	0.454000	0.30748	CAG	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.577	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ3	protein_coding	OTTHUMT00000254890.2	A	NM_002239	-		155555781	1	no_errors	ENST00000295101	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155555781	A	T	155555781	3	4	129	1	0	0	0	0	1	0	0	0	8054	188	7	5	496	5	KCNJ3	2	155555781	Missense_Mutation	SNP	A	TCGA-DX-AB35-01A-21D-A417-09	86135235	155555781	87643592	7	9863											
WDSUB1	151525	genome.wustl.edu	37	chr2	160112887	160112887	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgttctgtgcgccttgCttaaaataaacaaacaagta	7	8	1	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:160112887C>T	ENST00000409990.3	-	9	1209		c.e9-1		WDSUB1_ENST00000409124.1_Splice_Site|WDSUB1_ENST00000392796.3_Splice_Site|WDSUB1_ENST00000359774.4_Splice_Site|WDSUB1_ENST00000358147.4_Splice_Site	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1								ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTGCGCCTTGCTTAAAATAAA	0.333																																																	0								ENSG00000196151						74	71	72					2																	160112887		2203	4300	6503	WDSUB1	SO:0001630	splice_region_variant	0			-	HGNC	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.953-1G>A	2.37:g.160112887C>T		Somatic	0	46	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q53TI9|Q8N6N8	Splice_Site	SNP							-	e8-1	ENST00000409990.3	37	c.953-1	CCDS2208.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.756395	0.96898	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6558	0.88177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDSUB1	159821133	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.268000	0.72552	2.596000	0.87737	0.655000	0.94253	.	-	-		0.333	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDSUB1	protein_coding	OTTHUMT00000333339.1	C	NM_152528	-	Intron	160112887	-1	no_errors	ENST00000359774	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	160112887	C	T	160112887	5	4	129	1	0	0	0	0	0	0	1	0	17348	811	28	2	490	2	WDSUB1	2	160112887	Splice_Site	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	4557106	160112887	83086486	8	9864											
SPEG	10290	genome.wustl.edu	37	chr2	220350080	220350080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacagccccaggggaaaGccgaagccggctccgctggg	14	15	1	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:220350080G>A	ENST00000312358.7	+	31	7754	c.7622G>A	c.(7621-7623)aGc>aAc	p.S2541N	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2541					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)		CCAGGGGAAAGCCGAAGCCGG	0.612																																																	0								ENSG00000072195						55	65	62					2																	220350080		1932	4124	6056	SPEG	SO:0001583	missense	0			-	HGNC	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.7622G>A	2.37:g.220350080G>A	ENSP00000311684:p.Ser2541Asn	Somatic	0	102	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	148	30.37	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S2541N	ENST00000312358.7	37	c.7622	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532028	0.64972	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63255	-0.03	5.79	5.79	0.91817	.	0.133025	0.34802	N	0.003673	T	0.38453	0.1041	N	0.08118	0	0.80722	D	1	P	0.35433	0.501	B	0.29785	0.107	T	0.37150	-0.9718	10	0.16896	T	0.51	.	14.2202	0.65820	0.0712:0.0:0.9288:0.0	.	2541	Q15772	SPEG_HUMAN	N	2541	ENSP00000311684:S2541N	ENSP00000265327:S2541N	S	+	2	0	SPEG	220058324	0.963000	0.33076	1.000000	0.80357	0.995000	0.86356	2.941000	0.49011	2.743000	0.94032	0.655000	0.94253	AGC	-	NULL		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876	-		220350080	1	no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	220350080	G	A	220350080	3	1	129	1	0	0	0	0	1	0	0	0	15043	971	34	2	7756	2	SPEG	2	220350080	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	60237193	220350080	22849293	9	9865											
GPC1	2817	genome.wustl.edu	37	chr2	241402832	241402832	+	Frame_Shift_Del	DEL	C	C	-													tgtgctcactgcctgggagtCcccggcgccaggccctgccc					rs140137064		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:241402832delC	ENST00000264039.2	+	4	1034	c.786delC	c.(784-786)gtcfs	p.V262fs		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	262					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCCTGGGAGTCCCCGGCGCCA	0.667																																																	0								ENSG00000063660						80	84	82					2																	241402832		2203	4300	6503	GPC1	SO:0001589	frameshift_variant	0				HGNC	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.786delC	2.37:g.241402832delC	ENSP00000264039:p.Val262fs	Somatic	0	69	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B3KTD1|Q53QM4	Frame_Shift_Del	DEL							pfam_Glypican	p.G264fs	ENST00000264039.2	37	c.786	CCDS2534.1	2																																																																																			-	pfam_Glypican		0.667	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	protein_coding	OTTHUMT00000257179.3	C	NM_002081			241402832	1	no_errors	ENST00000264039	ensembl	human	known	74_37	frame_shift_del	DEL	0.019	-	-	241402832	C	-	241402832	7	5	129	1	0	1	0	1	0	0	0	0	6599	842	30	0	800	0	GPC1	2	241402832	Frame_Shift_Del	DEL	C	TCGA-DX-AB35-01A-21D-A417-09	21052752	241402832	1796541	10	9866											
CAV3	859	genome.wustl.edu	37	chr3	8775593	8775593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagcacacagatctcgagGcccagatcgtcaaggatatc	10	11	2	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:8775593G>T	ENST00000343849.2	+	1	108	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S	CAV3_ENST00000472766.1_3'UTR|CAV3_ENST00000397368.2_Missense_Mutation_p.A11S|SSUH2_ENST00000478513.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	11					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						AGATCTCGAGGCCCAGATCGT	0.562																																																	0								ENSG00000182533						123	105	111					3																	8775593		2203	4300	6503	CAV3	SO:0001583	missense	0			-	HGNC	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.31G>T	3.37:g.8775593G>T	ENSP00000341940:p.Ala11Ser	Somatic	0	40	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A8K777|Q3T1A4	Missense_Mutation	SNP							pfam_Caveolin	p.A11S	ENST00000343849.2	37	c.31	CCDS2569.1	3	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449320	0.43531	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.92348	-3.02;-3.02	5.15	4.26	0.50523	.	0.239588	0.34828	N	0.003659	T	0.80994	0.4731	N	0.08118	0	0.29156	N	0.878068	B	0.13594	0.008	B	0.17979	0.02	T	0.67814	-0.5573	10	0.13470	T	0.59	-21.02	11.1472	0.48436	0.0888:0.0:0.9112:0.0	.	11	P56539	CAV3_HUMAN	S	11	ENSP00000341940:A11S;ENSP00000380525:A11S	ENSP00000341940:A11S	A	+	1	0	CAV3	8750593	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.478000	0.53158	2.397000	0.81536	0.561000	0.74099	GCC	-	pfam_Caveolin		0.562	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV3	protein_coding	OTTHUMT00000207008.2	G	NM_033337	-		8775593	1	no_errors	ENST00000343849	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8775593	G	T	8775593	3	4	129	1	0	0	0	0	1	0	0	0	2697	1203	42	3	33	3	CAV3	3	8775593	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		8775593	189246837	11	9867											
DOCK3	1795	genome.wustl.edu	37	chr3	51297624	51297624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcattgtacagtcacGgatcctgtactcacgagcca	8	12	3	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:51297624G>A	ENST00000266037.9	+	23	2245	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	741					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTACAGTCACGGATCCTGTAC	0.458																																																	0								ENSG00000088538						88	88	88					3																	51297624		1933	4141	6074	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2222G>A	3.37:g.51297624G>A	ENSP00000266037:p.Arg741Gln	Somatic	0	49	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	O15017	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R741Q	ENST00000266037.9	37	c.2222	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.917465	0.97105	.	.	ENSG00000088538	ENST00000266037	T	0.67523	-0.27	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87276	0.2289	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	741	Q8IZD9	DOCK3_HUMAN	Q	741	ENSP00000266037:R741Q	ENSP00000266037:R741Q	R	+	2	0	DOCK3	51272664	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGG	-	superfamily_ARM-type_fold		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	G	NM_004947	-		51297624	1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51297624	G	A	51297624	3	1	129	1	0	0	0	0	1	0	0	0	4690	1116	39	1	2312	1	DOCK3	3	51297624	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	42522031	51297624	146724806	12	9868											
RUVBL1	8607	genome.wustl.edu	37	chr3	127820493	127820494	+	Splice_Site	INS	-	-	A													aaaaatgctggggtccagctINSaaaaaaaaaaatgtaaatca					rs111737766		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:127820493_127820494insA	ENST00000322623.5	-	5	613		c.e5-2		RUVBL1_ENST00000464873.1_Splice_Site|RUVBL1_ENST00000417360.1_Splice_Site	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1						CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GGGGTCCAGCTAAAAAAAAAAA	0.426																																																	2	Unknown(2)	ovary(1)|prostate(1)						ENSG00000175792																																			RUVBL1	SO:0001630	splice_region_variant	0				HGNC	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.514-2->T	3.37:g.127820504_127820504dupA		Somatic	0	23	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Splice_Site	INS							-	e5-2	ENST00000322623.5	37	c.514-3_514-2	CCDS3047.1	3																																																																																			-	-		0.426	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	protein_coding	OTTHUMT00000356728.2	-			Intron	127820494	-1	no_errors	ENST00000322623	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.000	A	A	127820494	-	A	127820493	8	5	129	1	0	1	1	0	0	0	1	0	13760	1536	53	0	886	0	RUVBL1	3	127820493	Splice_Site	INS	-	TCGA-DX-AB35-01A-21D-A417-09	76522869	127820493	70201937	13	9869											
COL6A5	256076	genome.wustl.edu	37	chr3	130098262	130098262	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acattttctgtctgcatagtTcacttccccatatcctgtca	4	13	4	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:130098262T>C	ENST00000432398.2	+	4	1163	c.669T>C	c.(667-669)gtT>gtC	p.V223V	COL6A5_ENST00000265379.6_Splice_Site_p.V223V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	223	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCTGCATAGTTCACTTCCCCA	0.433																																																	0								ENSG00000172752						35	30	31					3																	130098262		692	1591	2283	COL6A5	SO:0001630	splice_region_variant	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.668-1T>C	3.37:g.130098262T>C		Somatic	0	19	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V223	ENST00000432398.2	37	c.669		3																																																																																			-	NULL		0.433	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		T	NM_153264	-	Silent	130098262	1	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	SNP	0.206	C	C	130098262	T	C	130098262	5	2	129	1	0	0	0	0	0	0	1	0	3704	1797	62	5	679	5	COL6A5	3	130098262	Splice_Site	SNP	T	TCGA-DX-AB35-01A-21D-A417-09	2277769	130098262	67924168	14	9870											
ZNF141	7700	genome.wustl.edu	37	chr4	367589	367589	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataaaccctacaaatgtaaaGattgtgacaaagcctttaaa	5	7	0	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:367589G>A	ENST00000240499.7	+	4	1512	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	455					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)	p.D455H(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAATGTAAAGATTGTGACAA	0.328																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000131127						69	76	74					4																	367589		2203	4299	6502	ZNF141	SO:0001583	missense	0			-	HGNC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1363G>A	4.37:g.367589G>A	ENSP00000240499:p.Asp455Asn	Somatic	0	99	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	95	8.65	Q6DK07	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D455N	ENST00000240499.7	37	c.1363	CCDS33931.1	4	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085623	0.36758	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.39467	1.215	0.09310	N	1	B	0.22003	0.063	B	0.27170	0.077	T	0.27706	-1.0066	8	.	.	.	.	7.8922	0.29684	0.0:0.0:1.0:0.0	.	455	Q15928	ZN141_HUMAN	N	455	ENSP00000240499:D455N	.	D	+	1	0	ZNF141	357589	0.000000	0.05858	0.871000	0.34182	0.719000	0.41307	-0.343000	0.07791	0.591000	0.29711	0.313000	0.20887	GAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.328	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	protein_coding	OTTHUMT00000357710.1	G	NM_003441	-		367589	1	no_errors	ENST00000240499	ensembl	human	known	74_37	missense	SNP	0.011	A	A	367589	G	A	367589	3	1	129	1	0	0	0	0	1	0	0	0	17737	942	33	2	1377	2	ZNF141	4	367589	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		367589	190786687	15	9871			1	74		3	3	62	G		9.625365e-09
ZNF141	7700	genome.wustl.edu	37	chr4	367636	367636	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacacctgaataaacataaGaaaattcatacttgagagaa	5	7	2	4			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:367636G>A	ENST00000240499.7	+	4	1559	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	470					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ATAAACATAAGAAAATTCATA	0.323																																																	0								ENSG00000131127						51	57	55					4																	367636		2194	4290	6484	ZNF141	SO:0001819	synonymous_variant	0			-	HGNC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1410G>A	4.37:g.367636G>A		Somatic	0	71	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	73	10.98	Q6DK07	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K470	ENST00000240499.7	37	c.1410	CCDS33931.1	4																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	protein_coding	OTTHUMT00000357710.1	G	NM_003441	-		367636	1	no_errors	ENST00000240499	ensembl	human	known	74_37	silent	SNP	0.423	A	A	367636	G	A	367636	2	1	129	1	0	0	0	0	0	0	0	1	17737	933	33	2		2	ZNF141	4	367636	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	47	367636	190786640	16	9872			1	74		3	3	62	G		9.625365e-09
ZNF141	7700	genome.wustl.edu	37	chr4	367650	367650	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acataagaaaattcatacttGagagaaatcctacaaatgta	5	6	1	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:367650G>A	ENST00000240499.7	+	4	1573	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	0					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ATTCATACTTGAGAGAAATCC	0.323																																																	0								ENSG00000131127						48	53	51					4																	367650		2185	4284	6469	ZNF141	SO:0001819	synonymous_variant	0			-	HGNC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1424G>A	4.37:g.367650G>A		Somatic	0	65	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	70	12.50	Q6DK07	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.*475	ENST00000240499.7	37	c.1424	CCDS33931.1	4																																																																																			-	NULL		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	protein_coding	OTTHUMT00000357710.1	G	NM_003441	-		367650	1	no_errors	ENST00000240499	ensembl	human	known	74_37	silent	SNP	0.173	A	A	367650	G	A	367650	2	1	129	1	0	0	0	0	0	0	0	1	17737	1285	45	2		2	ZNF141	4	367650	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	14	367650	190786626	17	9873			1	74		3	3	62	G		9.625365e-09
DSPP	1834	genome.wustl.edu	37	chr4	88536069	88536167	+	In_Frame_Del	DEL	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	-													tagcagtgacagcagcaacaGcagtgacagtagcgatagca					rs370931212|rs577230106|rs377065929|rs374164104|rs559594297|rs374635846	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:88536069_88536167delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	ENST00000282478.7	+	4	2288_2386	c.2255_2353delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	c.(2254-2355)agcagtgacagtagcgatagcagtgacagcagcaacagcagtgacagcagtgatagcagtgacagcagtgatagtagtgacagcagcaacagcagtgatagc>agc	p.752_785SSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDS>S	DSPP_ENST00000399271.1_In_Frame_Del_p.752_785SSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDS>S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	752	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S756S(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagcaacagcagtgacagtagcgatagcagtgacagcagcaacagcagtgacagcagtgatagcagtgacagcagtgatagtagtgacagcagcaacagcagtgatagcaacgacag	0.502																																																	1	Substitution - coding silent(1)	breast(1)	GRCh37	CD086112	DSPP	D		ENSG00000152591																																			DSPP	SO:0001651	inframe_deletion	0				HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2255_2353delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	4.37:g.88536069_88536167delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	ENSP00000282478:p.Ser752_Asp784del	Somatic					0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MUI0|O95815	In_Frame_Del	DEL							NULL	p.SDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDS753in_frame_del	ENST00000282478.7	37	c.2255_2353	CCDS43248.1	4																																																																																			-	NULL		0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	NM_014208			88536167	1	no_errors	ENST00000282478	ensembl	human	known	74_37	in_frame_del	DEL	0.994:0.994:0.993:0.989:0.998:1.000:1.000:1.000:0.997:0.991:0.910:0.896:0.787:0.583:0.592:0.606:0.587:0.619:0.627:0.625:0.511:0.428:0.221:0.244:0.275:0.289:0.356:0.525:0.744:0.759:0.763:0.703:0.707:0.749:0.781:0.813:0.824:0.843:0.865:0.876:0.869:0.860:0.867:0.851:0.833:0.792:0.673:0.693:0.700:0.793:0.803:0.769:0.524:0.515:0.512:0.488:0.472:0.434:0.321:0.237:0.173:0.138:0.070:0.057:0.069:0.147:0.241:0.273:0.287:0.274:0.249:0.252:0.234:0.073:0.058:0.040:0.010:0.012:0.006:0.005:0.007:0.008:0.009:0.014:0.013:0.002:0.000:0.000:0.001:0.013:0.007:0.005:0.006:0.005:0.006:0.007:0.008:0.009:0.013	-	-	88536167	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	-	88536069	7	5	129	1	0	1	0	1	0	0	0	0	4784	971	34	0	2269	0	DSPP	4	88536069	In_Frame_Del	DEL	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	TCGA-DX-AB35-01A-21D-A417-09	88168419	88536069	102618207	18	9874											
HTR1A	3350	genome.wustl.edu	37	chr5	63257295	63257295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaccaacaccgacacCatgaggtcggtgaccgccaa	11	15	0	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:63257295C>A	ENST00000323865.3	-	1	485	c.252G>T	c.(250-252)atG>atT	p.M84I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	84					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACACCGACACCATGAGGTCGG	0.607																																																	0								ENSG00000178394						44	48	47					5																	63257295		2203	4300	6503	HTR1A	SO:0001583	missense	0			-	HGNC	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.252G>T	5.37:g.63257295C>A	ENSP00000316244:p.Met84Ile	Somatic	0	20	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	Q6LAE7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.M84I	ENST00000323865.3	37	c.252	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064830	0.76187	.	.	ENSG00000178394	ENST00000323865	T	0.35605	1.3	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.044538	0.85682	U	0.000000	T	0.39064	0.1064	L	0.52364	1.645	0.80722	D	1	P	0.41498	0.752	B	0.41764	0.366	T	0.42275	-0.9461	10	0.72032	D	0.01	.	16.6418	0.85128	0.0:1.0:0.0:0.0	.	84	P08908	5HT1A_HUMAN	I	84	ENSP00000316244:M84I	ENSP00000316244:M84I	M	-	3	0	HTR1A	63293051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.353000	0.52247	2.170000	0.68504	0.561000	0.74099	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	protein_coding	OTTHUMT00000368397.1	C	NM_000524	-		63257295	-1	no_errors	ENST00000323865	ensembl	human	known	74_37	missense	SNP	1.000	A	A	63257295	C	A	63257295	3	1	129	1	0	0	0	0	1	0	0	0	7438	594	21	3	1019	3	HTR1A	5	63257295	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09		63257295	117657965	19	9875											
SGTB	54557	genome.wustl.edu	37	chr5	64981292	64981292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctaatttgctctgagCagcagccctaagagaaagaa	10	9	1	4			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:64981292C>T	ENST00000381007.4	-	6	617	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	128										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTGCTCTGAGCAGCAGCCCTA	0.368																																																	0								ENSG00000197860						134	123	126					5																	64981292		2203	4300	6503	SGTB	SO:0001583	missense	0			-	HGNC	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.382G>A	5.37:g.64981292C>T	ENSP00000370395:p.Ala128Thr	Somatic	0	41	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A128T	ENST00000381007.4	37	c.382	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.432255	0.96150	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.64618	-0.11;-0.11	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.79424	-0.1809	10	0.87932	D	0	-7.5053	19.4332	0.94779	0.0:1.0:0.0:0.0	.	128	Q96EQ0	SGTB_HUMAN	T	128	ENSP00000370395:A128T;ENSP00000421447:A128T	ENSP00000370395:A128T	A	-	1	0	SGTB	65017048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.433000	0.80362	2.659000	0.90383	0.655000	0.94253	GCT	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR-contain_dom		0.368	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	protein_coding	OTTHUMT00000215057.2	C	NM_019072	-		64981292	-1	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64981292	C	T	64981292	3	4	129	1	0	0	0	0	1	0	0	0	14234	710	25	2	556	2	SGTB	5	64981292	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	1723997	64981292	115933968	20	9876											
SPOCK1	6695	genome.wustl.edu	37	chr5	136314505	136314505	+	Frame_Shift_Del	DEL	A	A	-													accacggacccaccactgccAaaatcccctgaggtttcctg							TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:136314505delA	ENST00000394945.1	-	11	1327	c.1158delT	c.(1156-1158)tttfs	p.F386fs	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Frame_Shift_Del_p.F386fs	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	386					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCACTGCCAAAATCCCCTG	0.522																																																	0								ENSG00000152377						76	74	74					5																	136314505		2203	4300	6503	SPOCK1	SO:0001589	frameshift_variant	0				HGNC	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1158delT	5.37:g.136314505delA	ENSP00000378401:p.Phe386fs	Somatic	0	35	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Frame_Shift_Del	DEL							pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.F386fs	ENST00000394945.1	37	c.1158	CCDS4191.1	5																																																																																			-	NULL		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	protein_coding	OTTHUMT00000251222.1	A	NM_004598			136314505	-1	no_errors	ENST00000282223	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	136314505	A	-	136314505	7	5	129	1	0	1	0	1	0	0	0	0	15086	127	5	0	165	0	SPOCK1	5	136314505	Frame_Shift_Del	DEL	A	TCGA-DX-AB35-01A-21D-A417-09	71333213	136314505	44600755	21	9877											
ODZ2	57451	genome.wustl.edu	37	chr5	167617486	167617486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagtccttctatgaccGtatcaagctcttggcaggca	10	10	3	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:167617486G>T	ENST00000518659.1	+	14	2753	c.2714G>T	c.(2713-2715)cGt>cTt	p.R905L	TENM2_ENST00000545108.1_Missense_Mutation_p.R905L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.R673L|TENM2_ENST00000403607.2_Missense_Mutation_p.R729L|TENM2_ENST00000519204.1_Missense_Mutation_p.R784L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	905					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)										TTCTATGACCGTATCAAGCTC	0.577																																																	0								ENSG00000145934						57	57	57					5																	167617486		1990	4164	6154	TENM2	SO:0001583	missense	0			-	HGNC	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.2714G>T	5.37:g.167617486G>T	ENSP00000429430:p.Arg905Leu	Somatic	0	60	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q9ULU2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R905L	ENST00000518659.1	37	c.2714		5	.	.	.	.	.	.	.	.	.	.	G	35	5.501235	0.96371	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92647	-2.58;-2.58;-2.75;-3.01;-3.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.69078	0.993;0.988;0.997	D;P;D	0.75484	0.954;0.901;0.986	D	0.95965	0.8965	10	0.87932	D	0	.	20.1006	0.97874	0.0:0.0:1.0:0.0	.	905;905;673	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	905;905;784;673;729	ENSP00000429430:R905L;ENSP00000438635:R905L;ENSP00000428964:R784L;ENSP00000427874:R673L;ENSP00000384905:R729L	ENSP00000384905:R729L	R	+	2	0	ODZ2	167550064	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.757000	0.94681	0.561000	0.74099	CGT	-	superfamily_ConA-like_lec_gl_sf		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679	-		167617486	1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	1.000	T	T	167617486	G	T	167617486	3	4	129	1	0	0	0	0	1	0	0	0	10837	1145	40	3	2741	3	ODZ2	5	167617486	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	31302981	167617486	13297774	22	9878											
DUSP22	56940	genome.wustl.edu	37	chr6	311931	311931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaggtgacacatattctgtCtgtccacgatagtgccaggc	10	11	2	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:311931C>G	ENST00000344450.5	+	3	550	c.107C>G	c.(106-108)tCt>tGt	p.S36C	DUSP22_ENST00000419235.2_Missense_Mutation_p.S36C|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605863.1_Intron	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	36					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CATATTCTGTCTGTCCACGAT	0.478																																																	0								ENSG00000112679						170	130	144					6																	311931		2203	4300	6503	DUSP22	SO:0001583	missense	0			-	HGNC	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.107C>G	6.37:g.311931C>G	ENSP00000345281:p.Ser36Cys	Somatic	0	60	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S36C	ENST00000344450.5	37	c.107	CCDS4468.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666281	0.88251	.	.	ENSG00000112679	ENST00000344450	D	0.86366	-2.11	5.99	5.99	0.97316	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.178066	0.39909	N	0.001227	D	0.92306	0.7559	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92590	0.6082	10	0.87932	D	0	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	36;36	Q9NRW4-2;Q9NRW4	.;DUS22_HUMAN	C	36	ENSP00000345281:S36C	ENSP00000345281:S36C	S	+	2	0	DUSP22	256931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.643000	0.61390	2.840000	0.97914	0.655000	0.94253	TCT	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat		0.478	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	protein_coding	OTTHUMT00000039621.1	C	NM_020185	-		311931	1	no_errors	ENST00000419235	ensembl	human	known	74_37	missense	SNP	1.000	G	G	311931	C	G	311931	3	3	129	1	0	0	0	0	1	0	0	0	4823	913	32	4	117	4	DUSP22	6	311931	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09		311931	170803136	23	9879											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32712940	32712940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccttcactcgtcagctgaCcatgttgcctcctatggtgt	8	14	2	1	rs369556704	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:32712940C>G	ENST00000374940.3	+	2	189	c.87C>G	c.(85-87)gaC>gaG	p.D29E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	29	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CGTCAGCTGACCATGTTGCCT	0.473																																																	0								ENSG00000237541						204	204	204					6																	32712940		1511	2709	4220	HLA-DQA2	SO:0001583	missense	0			-	HGNC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.87C>G	6.37:g.32712940C>G	ENSP00000364076:p.Asp29Glu	Somatic	0	30	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP							pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.D29E	ENST00000374940.3	37	c.87	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	11.36	1.615788	0.28801	.	.	ENSG00000237541	ENST00000374940	T	0.00760	5.73	3.16	2.27	0.28462	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (1);	0.555807	0.18762	U	0.131856	T	0.01489	0.0048	M	0.86740	2.835	0.25401	N	0.988449	D	0.76494	0.999	D	0.73708	0.981	T	0.46512	-0.9186	10	0.39692	T	0.17	.	6.234	0.20752	0.0:0.8519:0.0:0.1481	.	29	P01906	DQA2_HUMAN	E	29	ENSP00000364076:D29E	ENSP00000364076:D29E	D	+	3	2	HLA-DQA2	32820918	0.083000	0.21467	0.984000	0.44739	0.027000	0.11550	-1.308000	0.02730	0.644000	0.30656	0.384000	0.25694	GAC	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog		0.473	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	protein_coding	OTTHUMT00000076179.2	C	NM_020056	-		32712940	1	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	SNP	0.995	G	G	32712940	C	G	32712940	3	3	129	1	0	0	0	0	1	0	0	0	7207	506	18	4	93	4	HLA-DQA2	6	32712940	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	32401009	32712940	138402127	24	9880			2	75		2	2	14	N	T_C	2.981536e-05
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32712953	32712953	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaccatgttgcctccTatggtgtgaacttctaccag	9	12	1	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:32712953T>A	ENST00000374940.3	+	2	202	c.100T>A	c.(100-102)Tat>Aat	p.Y34N		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	34	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TGTTGCCTCCTATGGTGTGAA	0.488																																																	0								ENSG00000237541						207	206	206					6																	32712953		1511	2708	4219	HLA-DQA2	SO:0001583	missense	0			-	HGNC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.100T>A	6.37:g.32712953T>A	ENSP00000364076:p.Tyr34Asn	Somatic	0	36	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP							pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y34N	ENST00000374940.3	37	c.100	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	13.63	2.293409	0.40594	.	.	ENSG00000237541	ENST00000374940	T	0.00873	5.59	3.16	3.16	0.36331	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.134340	0.06545	U	0.744018	T	0.03434	0.0099	H	0.96333	3.805	0.09310	N	1	D	0.54047	0.964	P	0.59171	0.853	T	0.36089	-0.9762	10	0.87932	D	0	.	7.9968	0.30273	0.0:0.0:0.0:1.0	.	34	P01906	DQA2_HUMAN	N	34	ENSP00000364076:Y34N	ENSP00000364076:Y34N	Y	+	1	0	HLA-DQA2	32820931	0.006000	0.16342	0.027000	0.17364	0.004000	0.04260	0.756000	0.26419	1.442000	0.47568	0.315000	0.21342	TAT	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	protein_coding	OTTHUMT00000076179.2	T	NM_020056	-		32712953	1	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	SNP	0.054	A	A	32712953	T	A	32712953	3	1	129	1	0	0	0	0	1	0	0	0	7207	1522	53	5	106	5	HLA-DQA2	6	32712953	Missense_Mutation	SNP	T	TCGA-DX-AB35-01A-21D-A417-09	13	32712953	138402114	25	9881			2	75		2	2	14	N	T_C	2.981536e-05
HSP90AB1	3326	genome.wustl.edu	37	chr6	44219325	44219325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacaagaaattctatgagGcattctctaaaaatctcaag	5	7	3	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:44219325G>A	ENST00000371554.1	+	8	1508	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.A432T|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.A432T|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	432					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTCTATGAGGCATTCTCTAA	0.333																																																	0								ENSG00000096384						27	28	28					6																	44219325		2183	4292	6475	HSP90AB1	SO:0001583	missense	0			-	HGNC	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1294G>A	6.37:g.44219325G>A	ENSP00000360609:p.Ala432Thr	Somatic	0	45	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP							pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.A432T	ENST00000371554.1	37	c.1294	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554235	0.86231	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371565;ENST00000371562;ENST00000371556;ENST00000371554	T;T;T	0.10192	2.9;2.9;2.9	4.84	4.84	0.62591	Ribosomal protein S5 domain 2-type fold (1);	0.167713	0.36893	U	0.002347	T	0.06962	0.0177	L	0.55743	1.74	0.58432	D	0.999999	P;B;B	0.42039	0.769;0.381;0.225	B;B;B	0.35039	0.194;0.137;0.089	T	0.11916	-1.0568	10	0.62326	D	0.03	-11.3589	17.9239	0.88976	0.0:0.0:1.0:0.0	.	394;422;432	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	T	432;432;70;70;70;432	ENSP00000360709:A432T;ENSP00000325875:A432T;ENSP00000360609:A432T	ENSP00000325875:A432T	A	+	1	0	HSP90AB1	44327303	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.612000	0.74187	2.251000	0.74343	0.650000	0.86243	GCA	-	pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam		0.333	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	protein_coding	OTTHUMT00000040730.1	G	NM_007355	-		44219325	1	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44219325	G	A	44219325	3	1	129	1	0	0	0	0	1	0	0	0	7404	1203	42	2	1320	2	HSP90AB1	6	44219325	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	11506372	44219325	126895742	26	9882											
MUT	4594	genome.wustl.edu	37	chr6	49427080	49427080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggggctgttgctggtGtagaagtcgttgctgtatga	17	4	0	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:49427080G>A	ENST00000274813.3	-	2	227	c.100C>T	c.(100-102)Cac>Tac	p.H34Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	34					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTGCTGGTGTAGAAGTCGT	0.478																																																	0								ENSG00000146085						118	116	117					6																	49427080		2203	4300	6503	MUT	SO:0001583	missense	0			-	HGNC		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.100C>T	6.37:g.49427080G>A	ENSP00000274813:p.His34Tyr	Somatic	0	26	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP							pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.H34Y	ENST00000274813.3	37	c.100	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474417	0.26423	.	.	ENSG00000146085	ENST00000274813	D	0.97850	-4.57	5.38	4.51	0.55191	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.295869	0.37483	N	0.002075	D	0.86965	0.6060	N	0.08118	0	0.38104	D	0.937358	B	0.02656	0.0	B	0.01281	0.0	T	0.82018	-0.0665	10	0.15499	T	0.54	-18.3439	11.5829	0.50902	0.0823:0.0:0.9177:0.0	.	34	P22033	MUTA_HUMAN	Y	34	ENSP00000274813:H34Y	ENSP00000274813:H34Y	H	-	1	0	MUT	49535039	1.000000	0.71417	0.962000	0.40283	0.869000	0.49853	3.873000	0.56093	1.408000	0.46895	0.655000	0.94253	CAC	-	superfamily_Cbl-dep_enz_cat		0.478	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	protein_coding	OTTHUMT00000040854.1	G		-		49427080	-1	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	SNP	0.994	A	A	49427080	G	A	49427080	3	1	129	1	0	0	0	0	1	0	0	0	9993	1377	48	2	2200	2	MUT	6	49427080	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	5207755	49427080	121687987	27	9883											
SHPRH	257218	genome.wustl.edu	37	chr6	146264415	146264415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggcagtgggggcagtaaAaaggcttgatcttcagattt	13	6	2	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:146264415A>G	ENST00000367505.2	-	9	2366	c.2102T>C	c.(2101-2103)tTt>tCt	p.F701S	SHPRH_ENST00000438092.2_Missense_Mutation_p.F701S|SHPRH_ENST00000367503.3_Missense_Mutation_p.F701S|SHPRH_ENST00000275233.7_Missense_Mutation_p.F701S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	701					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGGGCAGTAAAAAGGCTTGAT	0.458																																																	0								ENSG00000146414						71	73	72					6																	146264415		1954	4150	6104	SHPRH	SO:0001583	missense	0			-	HGNC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2102T>C	6.37:g.146264415A>G	ENSP00000356475:p.Phe701Ser	Somatic	0	25	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.F701S	ENST00000367505.2	37	c.2102	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806833	0.90623	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);DEAD-like helicase (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.83483	2.645	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;0.999;0.999;0.999	D	0.83551	0.0101	10	0.72032	D	0.01	-26.1917	15.6522	0.77108	1.0:0.0:0.0:0.0	.	590;701;701;590	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	S	701;701;701;701;590	ENSP00000356475:F701S;ENSP00000356473:F701S;ENSP00000412797:F701S;ENSP00000275233:F701S	ENSP00000275233:F701S	F	-	2	0	SHPRH	146306108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.255000	0.95524	2.167000	0.68274	0.528000	0.53228	TTT	-	superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Znf_PHD		0.458	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	protein_coding	OTTHUMT00000042571.2	A	NM_173082	-		146264415	-1	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	SNP	1.000	G	G	146264415	A	G	146264415	3	3	129	1	0	0	0	0	1	0	0	0	14299	14	1	5	3081	5	SHPRH	6	146264415	Missense_Mutation	SNP	A	TCGA-DX-AB35-01A-21D-A417-09	96837335	146264415	24850652	28	9884											
FGFR1OP	11116	genome.wustl.edu	37	chr6	167413584	167413584	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgtgtttttagcactagagGagcaagaaaaagtagaggta	12	4	0	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:167413584G>C	ENST00000366847.4	+	2	370	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	FGFR1OP_ENST00000476078.1_3'UTR|RP1-167A14.2_ENST00000444102.1_RNA|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Missense_Mutation_p.E47Q|MIR3939_ENST00000582614.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	47					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		AGCACTAGAGGAGCAAGAAAA	0.308			T	FGFR1	"MPD, NHL"																																			Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0								ENSG00000213066						96	102	100					6																	167413584		2203	4300	6503	FGFR1OP	SO:0001583	missense	0			-	HGNC	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.139G>C	6.37:g.167413584G>C	ENSP00000355812:p.Glu47Gln	Somatic	0	112	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	90	15.09	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP							pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation	p.E47Q	ENST00000366847.4	37	c.139	CCDS5296.1	6	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712328	0.68730	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	T;T	0.39406	1.08;1.08	4.19	4.19	0.49359	.	0.200999	0.41294	D	0.000920	T	0.45478	0.1344	L	0.48642	1.525	0.51233	D	0.999914	D;D;P	0.89917	1.0;1.0;0.715	D;D;B	0.71414	0.973;0.947;0.401	T	0.41484	-0.9506	10	0.44086	T	0.13	-24.1284	13.6923	0.62553	0.0:0.0:1.0:0.0	.	47;47;47	E7ET71;O95684-2;O95684	.;.;FR1OP_HUMAN	Q	47	ENSP00000355812:E47Q;ENSP00000230248:E47Q	ENSP00000230248:E47Q	E	+	1	0	FGFR1OP	167333574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.674000	0.61612	1.864000	0.54056	0.555000	0.69702	GAG	-	NULL		0.308	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1OP	protein_coding	OTTHUMT00000043099.2	G	NM_007045	-		167413584	1	no_errors	ENST00000366847	ensembl	human	known	74_37	missense	SNP	1.000	C	C	167413584	G	C	167413584	3	2	129	1	0	0	0	0	1	0	0	0	5866	1175	41	4	145	4	FGFR1OP	6	167413584	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	21149169	167413584	3701483	29	9885											
INTS1	26173	genome.wustl.edu	37	chr7	1528982	1528982	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggacgtgcgcactcacttGgtcatcaccatctccatgag	11	13	4	1	rs149703686		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:1528982G>C	ENST00000404767.3	-	18	2401	c.2316C>G	c.(2314-2316)acC>acG	p.T772T	INTS1_ENST00000389470.4_Silent_p.T900T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	772					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACTCACTTGGTCATCACCA	0.682																																																	0								ENSG00000164880						31	40	37					7																	1528982		2091	4193	6284	INTS1	SO:0001819	synonymous_variant	0			-	HGNC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2316C>G	7.37:g.1528982G>C		Somatic	0	16	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP							pfam_DUF3677,superfamily_ARM-type_fold	p.T900	ENST00000404767.3	37	c.2700	CCDS47526.1	7																																																																																			-	NULL		0.682	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	protein_coding	OTTHUMT00000323683.1	G		-		1528982	-1	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	SNP	0.998	C	C	1528982	G	C	1528982	2	2	129	1	0	0	0	0	0	0	0	1	7777	1335	47	4		4	INTS1	7	1528982	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		1528982	157609681	30	9886											
NOD1	10392	genome.wustl.edu	37	chr7	30486646	30486646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtacctggctccgacatcgGtgatctggttgttgtataaa	11	9	1	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:30486646G>T	ENST00000222823.4	-	8	2831	c.2306C>A	c.(2305-2307)aCc>aAc	p.T769N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	769					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCCGACATCGGTGATCTGGTT	0.448																																																	0								ENSG00000106100						171	154	160					7																	30486646		2203	4300	6503	NOD1	SO:0001583	missense	0			-	HGNC	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2306C>A	7.37:g.30486646G>T	ENSP00000222823:p.Thr769Asn	Somatic	0	50	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.T769N	ENST00000222823.4	37	c.2306	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030204	0.93575	.	.	ENSG00000106100	ENST00000222823	T	0.54479	0.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71693	0.3370	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68992	-0.5263	10	0.46703	T	0.11	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	769	Q9Y239	NOD1_HUMAN	N	769	ENSP00000222823:T769N	ENSP00000222823:T769N	T	-	2	0	NOD1	30453171	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.241000	0.78201	2.824000	0.97209	0.655000	0.94253	ACC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.448	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	G		-		30486646	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30486646	G	T	30486646	3	4	129	1	0	0	0	0	1	0	0	0	10518	1261	44	3	583	3	NOD1	7	30486646	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	28957664	30486646	128652017	31	9887											
CALN1	83698	genome.wustl.edu	37	chr7	71252869	71252869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggacgcaggtctgtctgTtctgcttctgggaatgcact	12	11	4	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:71252869T>C	ENST00000329008.5	-	6	849	c.551A>G	c.(550-552)aAc>aGc	p.N184S	CALN1_ENST00000412588.1_Missense_Mutation_p.N226S|CALN1_ENST00000395275.2_Missense_Mutation_p.N226S|CALN1_ENST00000431984.1_Missense_Mutation_p.N184S|CALN1_ENST00000395276.2_Missense_Mutation_p.N184S|CALN1_ENST00000405452.2_Missense_Mutation_p.N184S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GGTCTGTCTGTTCTGCTTCTG	0.532																																																	0								ENSG00000183166						116	93	101					7																	71252869		2203	4300	6503	CALN1	SO:0001583	missense	0			-	HGNC	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.551A>G	7.37:g.71252869T>C	ENSP00000332498:p.Asn184Ser	Somatic	0	26	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	2	77.78	J3KQA7	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N226S	ENST00000329008.5	37	c.677	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872169	0.72180	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.69806	-0.32;-0.43;-0.32;-0.32;-0.43;-0.32	5.12	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.14661	0.345	0.44745	D	0.997741	P;P	0.36483	0.555;0.555	B;B	0.31495	0.131;0.131	T	0.33752	-0.9856	10	0.13108	T	0.6	-43.6598	10.1265	0.42652	0.1495:0.0:0.0:0.8505	.	184;184	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	S	184;226;184;184;226;184	ENSP00000332498:N184S;ENSP00000378690:N226S;ENSP00000378691:N184S;ENSP00000410704:N184S;ENSP00000391882:N226S;ENSP00000384354:N184S	ENSP00000332498:N184S	N	-	2	0	CALN1	70890805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.123000	0.71614	1.922000	0.55676	0.459000	0.35465	AAC	-	NULL		0.532	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	protein_coding	OTTHUMT00000320044.2	T	NM_031468	-		71252869	-1	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71252869	T	C	71252869	3	2	129	1	0	0	0	0	1	0	0	0	2593	1725	60	5	112	5	CALN1	7	71252869	Missense_Mutation	SNP	T	TCGA-DX-AB35-01A-21D-A417-09	40766223	71252869	87885794	32	9888											
CALU	813	genome.wustl.edu	37	chr7	128394753	128394753	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggatgagtacagaaAcgtgacttatggcacttacc	10	10	0	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:128394753A>T	ENST00000249364.4	+	3	517				CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.N131I|CALU_ENST00000542996.2_Missense_Mutation_p.N139I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GAGTACAGAAACGTGACTTAT	0.448																																																	0								ENSG00000128595						72	65	67					7																	128394753		692	1591	2283	CALU	SO:0001627	intron_variant	0			-	HGNC	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.415+244A>T	7.37:g.128394753A>T		Somatic	0	57	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.N139I	ENST00000249364.4	37	c.416	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961944	0.53400	.	.	ENSG00000128595	ENST00000542996;ENST00000537667;ENST00000537014;ENST00000449187	T;T	0.71698	-0.59;-0.59	6.03	4.86	0.63082	.	.	.	.	.	T	0.80839	0.4700	M	0.76727	2.345	0.80722	D	1	D	0.61697	0.99	D	0.65773	0.938	T	0.79376	-0.1829	9	0.36615	T	0.2	.	10.9579	0.47368	0.86:0.0:0.0:0.14	.	139	D6QS48	.	I	139;131;131;131	ENSP00000438248:N139I;ENSP00000408838:N131I	ENSP00000408838:N131I	N	+	2	0	CALU	128181989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.380000	0.79704	1.082000	0.41137	-0.327000	0.08410	AAC	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	protein_coding	OTTHUMT00000350533.1	A	NM_001219	-		128394753	1	no_errors	ENST00000542996	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128394753	A	T	128394753	1	4	129	0	1	0	0	0	0	0	0	0	2596	43	2	5		5	CALU	7	128394753	Intron	SNP	A	TCGA-DX-AB35-01A-21D-A417-09	57141884	128394753	30743910	33	9889											
CALD1	800	genome.wustl.edu	37	chr7	134632457	134632457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagggaggagagaaggaaGgtcctggaggaggaagagca	20	3	0	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:134632457G>T	ENST00000361675.2	+	8	1960	c.1731G>T	c.(1729-1731)aaG>aaT	p.K577N	CALD1_ENST00000422748.1_Missense_Mutation_p.K348N|CALD1_ENST00000393118.2_Missense_Mutation_p.K342N|CALD1_ENST00000417172.1_Missense_Mutation_p.K322N|CALD1_ENST00000495522.1_Missense_Mutation_p.K342N|CALD1_ENST00000424922.1_Missense_Mutation_p.K316N|CALD1_ENST00000361388.2_Missense_Mutation_p.K348N|CALD1_ENST00000361901.2_Missense_Mutation_p.K322N|CALD1_ENST00000543443.1_Missense_Mutation_p.K327N			Q05682	CALD1_HUMAN	caldesmon 1	577	Tropomyosin-binding. {ECO:0000255}.				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)			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						agagaaggaaggtcctggagg	0.577																																																	0								ENSG00000122786						41	41	41					7																	134632457		2203	4300	6503	CALD1	SO:0001583	missense	0			-	HGNC	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.1731G>T	7.37:g.134632457G>T	ENSP00000354826:p.Lys577Asn	Somatic	0	55	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	22	52.17	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP							pfam_Caldesmon_LSP,prints_Caldesmon	p.K348N	ENST00000361675.2	37	c.1044	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442354	0.43326	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.58	1.67	0.24075	.	0.258292	0.26808	N	0.022396	T	0.63141	0.2486	M	0.81942	2.565	0.46874	D	0.999239	P;D;D;D;D;D;D;D;D;D	0.58620	0.946;0.979;0.983;0.983;0.979;0.979;0.979;0.979;0.983;0.983	P;P;P;P;P;P;P;P;P;P	0.62649	0.775;0.801;0.825;0.905;0.732;0.732;0.732;0.732;0.905;0.874	T	0.61778	-0.6993	10	0.62326	D	0.03	-17.2794	8.8455	0.35168	0.3262:0.0:0.6738:0.0	.	271;327;348;342;316;342;322;348;577;322	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	N	322;322;348;348;577;322;342;316;342;327	ENSP00000398826:K322N;ENSP00000411476:K322N;ENSP00000355000:K348N;ENSP00000395710:K348N;ENSP00000354826:K577N;ENSP00000354513:K322N;ENSP00000376826:K342N;ENSP00000393621:K316N;ENSP00000419673:K342N;ENSP00000445641:K327N	ENSP00000355000:K348N	K	+	3	2	CALD1	134282997	1.000000	0.71417	0.995000	0.50966	0.572000	0.35998	2.047000	0.41269	0.025000	0.15241	0.563000	0.77884	AAG	-	pfam_Caldesmon_LSP		0.577	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	protein_coding	OTTHUMT00000339939.1	G	NM_033138	-		134632457	1	no_errors	ENST00000361388	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134632457	G	T	134632457	3	4	129	1	0	0	0	0	1	0	0	0	2583	991	35	3	1810	3	CALD1	7	134632457	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	6237704	134632457	24506206	34	9890											
RCL1	10171	genome.wustl.edu	37	chr9	4860199	4860199	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagccatgtggtgaagAactcaagggtggggataaag	14	6	1	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr9:4860199A>T	ENST00000381750.4	+	9	1269	c.1046A>T	c.(1045-1047)gAa>gTa	p.E349V	AL158147.2_ENST00000599351.1_5'Flank|RCL1_ENST00000381728.1_Missense_Mutation_p.E163V|RCL1_ENST00000448872.2_Missense_Mutation_p.E163V|RCL1_ENST00000381730.1_Missense_Mutation_p.E163V	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	349					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TGTGGTGAAGAACTCAAGGGT	0.383																																																	0								ENSG00000120158						99	92	94					9																	4860199		2203	4300	6503	RCL1	SO:0001583	missense	0			-	HGNC	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.1046A>T	9.37:g.4860199A>T	ENSP00000371169:p.Glu349Val	Somatic	0	182	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	95	30.15	D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP							pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	p.E349V	ENST00000381750.4	37	c.1046	CCDS6456.1	9	.	.	.	.	.	.	.	.	.	.	A	19.82	3.899210	0.72754	.	.	ENSG00000120158	ENST00000381750;ENST00000381730;ENST00000381728;ENST00000448872	.	.	.	5.8	5.8	0.92144	-terminal phosphate cyclase-like, eukaryotic (2);RNA 3&apos (3);-terminal phosphate cyclase (1);	0.112447	0.64402	D	0.000004	T	0.45617	0.1351	N	0.22421	0.69	0.80722	D	1	B;B	0.33022	0.394;0.016	B;B	0.30401	0.115;0.01	T	0.47837	-0.9086	9	0.54805	T	0.06	-17.5406	15.8123	0.78573	1.0:0.0:0.0:0.0	.	163;349	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	V	349;163;163;163	.	ENSP00000371147:E163V	E	+	2	0	RCL1	4850199	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.780000	0.91799	2.207000	0.71202	0.528000	0.53228	GAA	-	pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2		0.383	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCL1	protein_coding	OTTHUMT00000051587.1	A	NM_005772	-		4860199	1	no_errors	ENST00000381750	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4860199	A	T	4860199	3	4	129	1	0	0	0	0	1	0	0	0	13186	246	9	5	1080	5	RCL1	9	4860199	Missense_Mutation	SNP	A	TCGA-DX-AB35-01A-21D-A417-09		4860199	136353232	35	9891											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608921	84608921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatgtgaaagcaagcacttCcaatgaaactgaaattttcc	6	8	0	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr9:84608921C>T	ENST00000344803.2	+	4	3583	c.3536C>T	c.(3535-3537)tCc>tTc	p.S1179F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1179					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAAGCACTTCCAATGAAACT	0.403																																																	0								ENSG00000214929						59	56	57					9																	84608921		1863	4117	5980	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3536C>T	9.37:g.84608921C>T	ENSP00000341988:p.Ser1179Phe	Somatic	0	59	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	36.00		Missense_Mutation	SNP							NULL	p.S1179F	ENST00000344803.2	37	c.3536	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859444	0.32884	.	.	ENSG00000214929	ENST00000344803	T	0.05139	3.49	2.66	-3.1	0.05315	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P	0.36683	0.565	B	0.40134	0.32	T	0.38351	-0.9665	9	0.72032	D	0.01	0.0034	2.819	0.05467	0.2565:0.4056:0.0:0.3379	.	1179	Q6ZQQ2	F75D1_HUMAN	F	1179	ENSP00000341988:S1179F	ENSP00000341988:S1179F	S	+	2	0	FAM75D1	83798741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.028000	0.12350	-0.592000	0.05851	0.603000	0.83216	TCC	-	NULL		0.403	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	C	NM_001001670	-		84608921	1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.000	T	T	84608921	C	T	84608921	3	4	129	1	0	0	0	0	1	0	0	0	5934	855	30	2	3550	2	FLJ46321	9	84608921	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	79748722	84608921	56604510	36	9892											
HELLS	3070	genome.wustl.edu	37	chr10	96313980	96313980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactccaaatttttattgaCgaaaatggaacagcaacaat	5	7	0	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr10:96313980C>T	ENST00000348459.5	+	3	356	c.251C>T	c.(250-252)aCg>aTg	p.T84M	HELLS_ENST00000394045.1_Missense_Mutation_p.T84M|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.T84M|HELLS_ENST00000239026.6_Missense_Mutation_p.T84M|HELLS_ENST00000394044.1_Missense_Mutation_p.T84M|HELLS_ENST00000394036.1_Missense_Mutation_p.T84M	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTTTTATTGACGAAAATGGAA	0.313																																																	0								ENSG00000119969						67	75	72					10																	96313980		2203	4300	6503	HELLS	SO:0001583	missense	0			-	HGNC	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.251C>T	10.37:g.96313980C>T	ENSP00000239027:p.Thr84Met	Somatic	0	68	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79		Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T84M	ENST00000348459.5	37	c.251	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143974	0.77888	.	.	ENSG00000119969	ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000394036;ENST00000371332;ENST00000239026	T;T;D;T	0.95756	0.49;0.49;-3.8;0.49	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.973;0.996;0.997;0.973	D	0.97168	0.9842	10	0.72032	D	0.01	-1.1981	15.5318	0.75970	0.0:1.0:0.0:0.0	.	84;84;84;84	Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;HELLS_HUMAN	M	68;84;84;84;84;84;84	ENSP00000239027:T84M;ENSP00000377609:T84M;ENSP00000377608:T84M;ENSP00000360383:T84M	ENSP00000239026:T84M	T	+	2	0	HELLS	96303970	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.802000	0.75175	2.238000	0.73509	0.585000	0.79938	ACG	-	NULL		0.313	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	protein_coding	OTTHUMT00000049475.1	C	NM_018063	-		96313980	1	no_errors	ENST00000371332	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96313980	C	T	96313980	3	4	129	1	0	0	0	0	1	0	0	0	7048	536	19	1	261	1	HELLS	10	96313980	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09		96313980	39220767	37	9893											
FAM53B	9679	genome.wustl.edu	37	chr10	126311826	126311826	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccctcagttcttctctatCtgctcaatgtccaactcgcc	4	18	5	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr10:126311826C>A	ENST00000337318.3	-	5	1465	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.Q418H	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	418										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTTCTCTATCTGCTCAATGT	0.677																																																	0								ENSG00000189319						61	65	64					10																	126311826		2118	4147	6265	FAM53B	SO:0001583	missense	0			-	HGNC	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1254G>T	10.37:g.126311826C>A	ENSP00000338532:p.Gln418His	Somatic	0	43	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP							NULL	p.Q418H	ENST00000337318.3	37	c.1254	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526215	0.64860	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.08	2.17	0.27698	.	0.071997	0.56097	D	0.000026	T	0.65207	0.2669	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.65134	-0.6242	9	0.87932	D	0	-8.0732	8.7385	0.34543	0.0:0.7564:0.0:0.2436	.	418	Q14153	FA53B_HUMAN	H	418	.	ENSP00000338532:Q418H	Q	-	3	2	FAM53B	126301816	0.997000	0.39634	1.000000	0.80357	0.897000	0.52465	0.200000	0.17257	0.727000	0.32360	-0.150000	0.13652	CAG	-	NULL		0.677	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	protein_coding	OTTHUMT00000050879.1	C	NM_014661	-		126311826	-1	no_errors	ENST00000337318	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126311826	C	A	126311826	3	1	129	1	0	0	0	0	1	0	0	0	5582	912	32	3	18	3	FAM53B	10	126311826	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	29997846	126311826	9222921	38	9894											
NUP98	4928	genome.wustl.edu	37	chr11	3774581	3774581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaagcccagttccaagaGtcccaggtgctggtttactt	9	13	0	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr11:3774581G>T	ENST00000324932.7	-	11	1652	c.1232C>A	c.(1231-1233)aCt>aAt	p.T411N	NUP98_ENST00000397004.4_Missense_Mutation_p.T411N|NUP98_ENST00000355260.3_Missense_Mutation_p.T411N|NUP98_ENST00000359171.4_Missense_Mutation_p.T411N|NUP98_ENST00000397007.4_Missense_Mutation_p.T428N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	428	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCCAAGAGTCCCAGGTGC	0.413			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0								ENSG00000110713						89	85	86					11																	3774581		2201	4298	6499	NUP98	SO:0001583	missense	0			-	HGNC	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1232C>A	11.37:g.3774581G>T	ENSP00000316032:p.Thr411Asn	Somatic	0	76	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP							pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.T411N	ENST00000324932.7	37	c.1232	CCDS7746.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.10|13.10|13.10	2.135695|2.135695|2.135695	0.37728|0.37728|0.37728	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000527104|ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.|.	.|.|.	.|.|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	.|.|0.164141	.|.|0.56097	.|.|D	.|.|0.000038	T|T|T	0.61527|0.61527|0.61527	0.2354|0.2354|0.2354	M|M|M	0.64080|0.64080|0.64080	1.96|1.96|1.96	0.42803|0.42803|0.42803	D|D|D	0.99393|0.99393|0.99393	.|.|B;B;P;P	.|.|0.44946	.|.|0.435;0.435;0.715;0.846	.|.|B;B;B;P	.|.|0.46362	.|.|0.283;0.283;0.428;0.514	T|T|T	0.58463|0.58463|0.58463	-0.7632|-0.7632|-0.7632	5|5|9	.|.|0.19590	.|.|T	.|.|0.45	.|.|.	18.0268|18.0268|18.0268	0.89271|0.89271|0.89271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|428;411;411;411	.|.|P52948-3;P52948-4;P52948-2;P52948-5	.|.|.;.;.;.	E|I|N	30|60|411;411;411;411;428	.|.|.	.|.|ENSP00000316032:T411N	D|L|T	-|-|-	3|1|2	2|0|0	NUP98|NUP98|NUP98	3731157|3731157|3731157	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.674000|3.674000|3.674000	0.54598|0.54598|0.54598	2.500000|2.500000|2.500000	0.84329|0.84329|0.84329	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|CTC|ACT	-	NULL		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	protein_coding	OTTHUMT00000032766.3	G	NM_016320	-		3774581	-1	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3774581	G	T	3774581	3	4	129	1	0	0	0	0	1	0	0	0	10775	1029	36	3	4283	3	NUP98	11	3774581	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		3774581	131231935	39	9895											
TMPRSS5	80975	genome.wustl.edu	37	chr11	113565326	113565326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagccacagactgcccaCcaactatccgggaagccagg	11	15	0	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr11:113565326C>T	ENST00000299882.5	-	8	807	c.659G>A	c.(658-660)gGt>gAt	p.G220D	TMPRSS5_ENST00000545579.1_Missense_Mutation_p.G211D|TMPRSS5_ENST00000540540.1_De_novo_Start_OutOfFrame|TMPRSS5_ENST00000536856.1_De_novo_Start_OutOfFrame|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.G176D|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGACTGCCCACCAACTATCCG	0.642																																																	0								ENSG00000166682						11	16	14					11																	113565326		1935	4044	5979	TMPRSS5	SO:0001583	missense	0			-	HGNC	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.659G>A	11.37:g.113565326C>T	ENSP00000299882:p.Gly220Asp	Somatic	0	60	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00		Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G220D	ENST00000299882.5	37	c.659	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531561	0.64972	.	.	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955	T;T;T	0.68624	-0.34;-0.34;-0.34	4.53	4.53	0.55603	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.84270	0.5435	M	0.88310	2.945	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.91635	0.999;0.833	D	0.88063	0.2795	10	0.87932	D	0	.	16.0656	0.80867	0.0:1.0:0.0:0.0	.	211;220	F5GX83;Q9H3S3	.;TMPS5_HUMAN	D	220;211;176	ENSP00000299882:G220D;ENSP00000441104:G211D;ENSP00000445528:G176D	ENSP00000299882:G220D	G	-	2	0	TMPRSS5	113070536	1.000000	0.71417	0.446000	0.26920	0.345000	0.29048	6.659000	0.74412	2.065000	0.61736	0.205000	0.17691	GGT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.642	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	protein_coding	OTTHUMT00000398652.1	C	NM_030770	-		113565326	-1	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	SNP	0.982	T	T	113565326	C	T	113565326	3	4	129	1	0	0	0	0	1	0	0	0	16257	507	18	2	738	2	TMPRSS5	11	113565326	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	109790745	113565326	21441190	40	9896											
CALCOCO1	57658	genome.wustl.edu	37	chr12	54117527	54117527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggcggttcacatatcgGaactggtagagctgagctcc	12	12	1	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:54117527G>A	ENST00000550804.1	-	4	360	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CALCOCO1_ENST00000548263.1_Silent_p.F100F|CALCOCO1_ENST00000262059.4_Silent_p.F100F|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Intron			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	100	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCACATATCGGAACTGGTAGA	0.607																																																	0								ENSG00000012822						49	53	52					12																	54117527		2203	4300	6503	CALCOCO1	SO:0001819	synonymous_variant	0			-	HGNC	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.300C>T	12.37:g.54117527G>A		Somatic	0	23	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP							pfam_CoCoA	p.F100	ENST00000550804.1	37	c.300	CCDS8864.1	12																																																																																			-	pfam_CoCoA		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	protein_coding	OTTHUMT00000407233.2	G	NM_020898	-		54117527	-1	no_errors	ENST00000550804	ensembl	human	known	74_37	silent	SNP	1.000	A	A	54117527	G	A	54117527	2	1	129	1	0	0	0	0	0	0	0	1	2579	1165	41	2		2	CALCOCO1	12	54117527	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		54117527	79734368	41	9897											
HSD17B6	8630	genome.wustl.edu	37	chr12	57167823	57167823	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctggctgcgtgtctgacgGagaagggggccgagcagctg	19	9	1	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167823G>T	ENST00000554643.1	+	3	536	c.187G>T	c.(187-189)Gag>Tag	p.E63*	HSD17B6_ENST00000555805.1_Nonsense_Mutation_p.E63*|HSD17B6_ENST00000555159.1_Nonsense_Mutation_p.E63*|HSD17B6_ENST00000554150.1_Nonsense_Mutation_p.E63*|HSD17B6_ENST00000322165.1_Nonsense_Mutation_p.E63*			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	63				E -> D (in Ref. 1; AAB88252). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGTCTGACGGAGAAGGGGGC	0.597																																																	0								ENSG00000025423						56	57	56					12																	57167823		2203	4300	6503	HSD17B6	SO:0001587	stop_gained	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.187G>T	12.37:g.57167823G>T	ENSP00000451406:p.Glu63*	Somatic	0	37	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	146	27	84.39	O43275	Nonsense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.E63*	ENST00000554643.1	37	c.187	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543119	0.65198	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	.	.	.	5.08	5.08	0.68730	.	0.106321	0.40385	N	0.001117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	12.443	0.55635	0.0:0.2736:0.7264:0.0	.	.	.	.	X	63	.	ENSP00000318631:E63X	E	+	1	0	HSD17B6	55454090	0.993000	0.37304	0.931000	0.37212	0.140000	0.21249	2.177000	0.42509	2.810000	0.96702	0.655000	0.94253	GAG	-	pfam_DH_sc/Rdtase_SDR		0.597	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	G	NM_003725	-		57167823	1	no_errors	ENST00000322165	ensembl	human	known	74_37	nonsense	SNP	0.991	T	T	57167823	G	T	57167823	4	4	129	1	0	0	0	0	0	1	0	0	7389	1175	41	3	189	3	HSD17B6	12	57167823	Nonsense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	3050296	57167823	76684072	42	9898			3	76		4	4	88	N	G_A	1.278588e-12
HSD17B6	8630	genome.wustl.edu	37	chr12	57167840	57167840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggagaagggggccgagcaGctgaggggccagacgtctga	19	9	1	4			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167840G>T	ENST00000554643.1	+	3	553	c.204G>T	c.(202-204)caG>caT	p.Q68H	HSD17B6_ENST00000555805.1_Missense_Mutation_p.Q68H|HSD17B6_ENST00000555159.1_Missense_Mutation_p.Q68H|HSD17B6_ENST00000554150.1_Missense_Mutation_p.Q68H|HSD17B6_ENST00000322165.1_Missense_Mutation_p.Q68H			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	68					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGGCCGAGCAGCTGAGGGGCC	0.622																																																	0								ENSG00000025423						59	60	60					12																	57167840		2203	4300	6503	HSD17B6	SO:0001583	missense	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.204G>T	12.37:g.57167840G>T	ENSP00000451406:p.Gln68His	Somatic	0	37	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	143	25	85.12	O43275	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Q68H	ENST00000554643.1	37	c.204	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751137	0.31046	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	D;D;D;T;D;D;D	0.88124	-2.34;-2.34;-2.34;-0.57;-2.34;-2.34;-2.34	5.08	3.25	0.37280	NAD(P)-binding domain (1);	1.000740	0.08065	N	0.998820	D	0.82393	0.5027	N	0.11892	0.195	0.20764	N	0.99985	B	0.30361	0.277	B	0.43123	0.409	T	0.74362	-0.3690	10	0.66056	D	0.02	.	8.562	0.33516	0.2508:0.0:0.7492:0.0	.	68	O14756	H17B6_HUMAN	H	68	ENSP00000450698:Q68H;ENSP00000451753:Q68H;ENSP00000451406:Q68H;ENSP00000452103:Q68H;ENSP00000452273:Q68H;ENSP00000451497:Q68H;ENSP00000318631:Q68H	ENSP00000318631:Q68H	Q	+	3	2	HSD17B6	55454107	0.998000	0.40836	0.883000	0.34634	0.075000	0.17131	0.939000	0.28978	0.846000	0.35142	0.655000	0.94253	CAG	-	pfam_DH_sc/Rdtase_SDR		0.622	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	G	NM_003725	-		57167840	1	no_errors	ENST00000322165	ensembl	human	known	74_37	missense	SNP	0.873	T	T	57167840	G	T	57167840	3	4	129	1	0	0	0	0	1	0	0	0	7389	962	34	3	206	3	HSD17B6	12	57167840	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	17	57167840	76684055	43	9899			3	76		4	4	88	N	G_A	1.278588e-12
HSD17B6	8630	genome.wustl.edu	37	chr12	57167862	57167862	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggccagacgtctgacAggctggagacggtgaccctg	17	10	1	5			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167862A>C	ENST00000554643.1	+	3	575	c.226A>C	c.(226-228)Agg>Cgg	p.R76R	HSD17B6_ENST00000555805.1_Silent_p.R76R|HSD17B6_ENST00000555159.1_Silent_p.R76R|HSD17B6_ENST00000554150.1_Silent_p.R76R|HSD17B6_ENST00000322165.1_Silent_p.R76R			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	76					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GACGTCTGACAGGCTGGAGAC	0.587																																																	0								ENSG00000025423						65	66	66					12																	57167862		2203	4300	6503	HSD17B6	SO:0001819	synonymous_variant	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.226A>C	12.37:g.57167862A>C		Somatic	0	38	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	168	24	87.50	O43275	Silent	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R76	ENST00000554643.1	37	c.226	CCDS8925.1	12																																																																																			-	pfam_DH_sc/Rdtase_SDR		0.587	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	A	NM_003725	-		57167862	1	no_errors	ENST00000322165	ensembl	human	known	74_37	silent	SNP	0.155	C	C	57167862	A	C	57167862	2	2	129	1	0	0	0	0	0	0	0	1	7389	179	7	5		5	HSD17B6	12	57167862	Silent	SNP	A	TCGA-DX-AB35-01A-21D-A417-09	22	57167862	76684033	44	9900			3	76		4	4	88	N	G_A	1.278588e-12
HSD17B6	8630	genome.wustl.edu	37	chr12	57167910	57167910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatggagagcatcgctGcagctactcagtgggtgaag	14	9	1	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167910G>A	ENST00000554643.1	+	3	623	c.274G>A	c.(274-276)Gca>Aca	p.A92T	HSD17B6_ENST00000555805.1_Missense_Mutation_p.A92T|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A92T|HSD17B6_ENST00000554150.1_Missense_Mutation_p.A92T|HSD17B6_ENST00000322165.1_Missense_Mutation_p.A92T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	92					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GAGCATCGCTGCAGCTACTCA	0.507																																																	0								ENSG00000025423						72	75	74					12																	57167910		2203	4300	6503	HSD17B6	SO:0001583	missense	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	23316	protein-coding gene	gene with protein product	"oxidative 3-alpha-hydroxysteroid-dehydrogenase", "3(alpha->beta)-hydroxysteroid epimerasel", "retinol dehydrogenase", "oxidoreductase", "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase", "3-hydroxysteroid epimerase", "short chain dehydrogenase/reductase family 9C, member 6"	606623	"hydroxysteroid (17-beta) dehydrogenase 6", "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.274G>A	12.37:g.57167910G>A	ENSP00000451406:p.Ala92Thr	Somatic	0	36	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	182	20	90.10	O43275	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A92T	ENST00000554643.1	37	c.274	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539745	0.27563	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.08	5.08	0.68730	NAD(P)-binding domain (1);	0.110360	0.37577	N	0.002036	D	0.84460	0.5477	L	0.43757	1.38	0.09310	N	1	B	0.28055	0.199	B	0.34722	0.188	T	0.70124	-0.4958	10	0.17369	T	0.5	.	11.2404	0.48966	0.0851:0.0:0.9149:0.0	.	92	O14756	H17B6_HUMAN	T	92	ENSP00000450698:A92T;ENSP00000451753:A92T;ENSP00000451406:A92T;ENSP00000452273:A92T;ENSP00000318631:A92T	ENSP00000318631:A92T	A	+	1	0	HSD17B6	55454177	0.001000	0.12720	0.413000	0.26509	0.086000	0.17979	1.365000	0.34182	2.810000	0.96702	0.655000	0.94253	GCA	-	pfam_DH_sc/Rdtase_SDR		0.507	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	G	NM_003725	-		57167910	1	no_errors	ENST00000322165	ensembl	human	known	74_37	missense	SNP	0.126	A	A	57167910	G	A	57167910	3	1	129	1	0	0	0	0	1	0	0	0	7389	1319	46	2	276	2	HSD17B6	12	57167910	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	48	57167910	76683985	45	9901			3	76		4	4	88	N	G_A	1.278588e-12
MBD6	114785	genome.wustl.edu	37	chr12	57919428	57919428	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcagcctcaatgctccctCatacaactggggagctgccc	8	15	3	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57919428C>T	ENST00000355673.3	+	6	1033	c.677C>T	c.(676-678)tCa>tTa	p.S226L	MBD6_ENST00000431731.2_Missense_Mutation_p.S226L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	226	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AATGCTCCCTCATACAACTGG	0.647																																																	0								ENSG00000166987						103	118	113					12																	57919428		2203	4300	6503	MBD6	SO:0001583	missense	0			-	HGNC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.677C>T	12.37:g.57919428C>T	ENSP00000347896:p.Ser226Leu	Somatic	0	20	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP							superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S226L	ENST00000355673.3	37	c.677	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	c	15.41	2.825120	0.50739	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.37	3.37	0.38596	.	1.662290	0.04361	U	0.357535	T	0.42630	0.1211	N	0.08118	0	0.33924	D	0.64123	B;D	0.56968	0.007;0.978	B;P	0.52554	0.038;0.702	T	0.49153	-0.8969	8	.	.	.	-1.1593	12.7608	0.57363	0.0:1.0:0.0:0.0	.	226;226	Q6P0P0;Q96DN6	.;MBD6_HUMAN	L	226	.	.	S	+	2	0	MBD6	56205695	0.306000	0.24490	0.995000	0.50966	0.992000	0.81027	1.502000	0.35704	2.173000	0.68751	0.444000	0.29173	TCA	-	NULL		0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	protein_coding	OTTHUMT00000407250.1	C		-		57919428	1	no_errors	ENST00000355673	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57919428	C	T	57919428	3	4	129	1	0	0	0	0	1	0	0	0	9350	838	29	2	691	2	MBD6	12	57919428	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	751518	57919428	75932467	46	9902											
CYP27B1	1594	genome.wustl.edu	37	chr12	58159275	58159275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggagcctttgccattcttCgccttccctgcagggttgag	12	13	1	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:58159275C>T	ENST00000228606.4	-	3	603	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	132					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TGCCATTCTTCGCCTTCCCTG	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000111012						30	32	31					12																	58159275		2198	4290	6488	CYP27B1	SO:0001583	missense	0			-	HGNC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.394G>A	12.37:g.58159275C>T	ENSP00000228606:p.Glu132Lys	Somatic	0	14	0	1028	0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	298	24.37	B2RC61|Q548T3	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E132K	ENST00000228606.4	37	c.394	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.185180	0.94885	.	.	ENSG00000111012	ENST00000228606	T	0.70631	-0.5	5.06	4.17	0.49024	.	0.104838	0.64402	D	0.000005	T	0.64583	0.2611	L	0.37750	1.13	0.80722	D	1	P	0.42039	0.769	P	0.45449	0.481	T	0.61222	-0.7106	10	0.27785	T	0.31	.	12.3814	0.55309	0.0:0.9172:0.0:0.0828	.	132	O15528	CP27B_HUMAN	K	132	ENSP00000228606:E132K	ENSP00000228606:E132K	E	-	1	0	CYP27B1	56445542	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.502000	0.81614	1.354000	0.45846	0.561000	0.74099	GAA	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.672	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	protein_coding	OTTHUMT00000409248.1	C	NM_000785	-		58159275	-1	no_errors	ENST00000228606	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58159275	C	T	58159275	3	4	129	1	0	0	0	0	1	0	0	0	4161	893	31	1	1160	1	CYP27B1	12	58159275	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	239847	58159275	75692620	47	9903											
PTPRB	5787	genome.wustl.edu	37	chr12	71016412	71016412	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgctcctcaccgaaacttCtgctcccaggccagctgagg	10	15	2	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:71016412C>T	ENST00000550358.1	-	3	491	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.E156K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E155K			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGAAACTTCTGCTCCCAGG	0.408																																																	0								ENSG00000127329						29	31	30					12																	71016412		1838	4091	5929	PTPRB	SO:0001583	missense	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.466G>A	12.37:g.71016412C>T	ENSP00000448058:p.Glu156Lys	Somatic	0	46	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	134	182	42.41	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E156K	ENST00000550358.1	37	c.466		12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347238	0.82022	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.05925	3.91;3.86;3.37	5.42	5.42	0.78866	.	.	.	.	.	T	0.11196	0.0273	L	0.27053	0.805	0.80722	D	1	D;P;P;P	0.59767	0.986;0.925;0.925;0.925	P;P;P;P	0.53266	0.722;0.54;0.54;0.54	T	0.02484	-1.1152	9	0.56958	D	0.05	.	17.3726	0.87382	0.0:1.0:0.0:0.0	.	156;155;156;156	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	K	156;156;156;155	ENSP00000334928:E156K;ENSP00000448058:E156K;ENSP00000448349:E155K	ENSP00000334928:E156K	E	-	1	0	PTPRB	69302679	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	1.904000	0.39868	2.691000	0.91804	0.655000	0.94253	GAA	-	NULL		0.408	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	PTPRB	protein_coding	OTTHUMT00000404436.1	C		-		71016412	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71016412	C	T	71016412	3	4	129	1	0	0	0	0	1	0	0	0	12804	922	32	2	6367	2	PTPRB	12	71016412	Missense_Mutation	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	12857137	71016412	62835483	48	9904											
KRR1	11103	genome.wustl.edu	37	chr12	75897849	75897849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaactctctcttaatcatTaagctctttagtcatgcaac	4	12	5	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:75897849T>G	ENST00000229214.4	-	7	689	c.666A>C	c.(664-666)ttA>ttC	p.L222F	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	222					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCTTAATCATTAAGCTCTTTA	0.308																																																	0								ENSG00000111615						88	83	85					12																	75897849		2203	4300	6503	KRR1	SO:0001583	missense	0			-	HGNC	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.666A>C	12.37:g.75897849T>G	ENSP00000229214:p.Leu222Phe	Somatic	0	33	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	378	13.30	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom	p.L222F	ENST00000229214.4	37	c.666	CCDS9012.1	12	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878862	0.72294	.	.	ENSG00000111615	ENST00000229214	T	0.33654	1.4	5.86	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.63153	0.2487	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.65763	-0.6089	10	0.87932	D	0	-2.2027	5.4745	0.16688	0.0:0.3429:0.0:0.6571	.	222	Q13601	KRR1_HUMAN	F	222	ENSP00000229214:L222F	ENSP00000229214:L222F	L	-	3	2	KRR1	74184116	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.385000	0.34408	1.069000	0.40788	0.477000	0.44152	TTA	-	NULL		0.308	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRR1	protein_coding	OTTHUMT00000405727.1	T	NM_007043	-		75897849	-1	no_errors	ENST00000229214	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75897849	T	G	75897849	3	3	129	1	0	0	0	0	1	0	0	0	8448	1751	61	5	495	5	KRR1	12	75897849	Missense_Mutation	SNP	T	TCGA-DX-AB35-01A-21D-A417-09	4881437	75897849	57954046	49	9905											
BRCA2	675	genome.wustl.edu	37	chr13	32913559	32913559	+	Frame_Shift_Del	DEL	A	A	-													cagacttcattacttgaagcAaaaaaatggcttagagaagg					rs80359479|rs80359481		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:32913559delA	ENST00000380152.3	+	11	5300	c.5067delA	c.(5065-5067)gcafs	p.A1689fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.A1689fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1689	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACTTGAAGCAAAAAAATGGC	0.313			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0								ENSG00000139618			17,4187		1,15,2086	36	39	38	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		3.9	1	13	dbSNP_132	38	14,8208		1,12,4098	no	frameshift	BRCA2	NM_000059.3		2,27,6184	A1A1,A1R,RR		0.1703,0.4044,0.2495			32913559	31,12395	2181	4286	6467	BRCA2	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)		HGNC	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5067delA	13.37:g.32913559delA	ENSP00000369497:p.Ala1689fs	Somatic	0	45	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL							pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.K1691fs	ENST00000380152.3	37	c.5067	CCDS9344.1	13																																																																																			-	pfam_BRCA2_repeat,pirsf_BRCA2,pfscan_BRCA2_repeat		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	A	NM_000059			32913559	1	no_errors	ENST00000380152	ensembl	human	known	74_37	frame_shift_del	DEL	0.963	-	-	32913559	A	-	32913559	7	5	129	1	0	1	0	1	0	0	0	0	1501	117	5	0	5105	0	BRCA2	13	32913559	Frame_Shift_Del	DEL	A	TCGA-DX-AB35-01A-21D-A417-09		32913559	82256319	50	9906											
C13orf23	80209	genome.wustl.edu	37	chr13	39600524	39600524	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagccccccttgaaagCctgtaatataagaaagaaga	8	9	0	4			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:39600524C>A	ENST00000352251.3	-	6	1203	c.370G>T	c.(370-372)Gct>Tct	p.A124S	PROSER1_ENST00000484434.3_5'Flank|PROSER1_ENST00000350125.3_Splice_Site_p.A102S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	124																	CCCTTGAAAGCCTGTAATATA	0.388																																																	0								ENSG00000120685						63	69	67					13																	39600524		2203	4300	6503	PROSER1	SO:0001630	splice_region_variant	0			-	HGNC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.370-1G>T	13.37:g.39600524C>A		Somatic	0	76	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP							NULL	p.A124S	ENST00000352251.3	37	c.370	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680443	0.88542	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	.	.	.	.	.	T	0.45196	0.1330	N	0.19112	0.55	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.80764	0.973;0.994	T	0.27806	-1.0063	8	.	.	.	-14.7902	17.1251	0.86712	0.0:1.0:0.0:0.0	.	102;124	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	124;102;103	ENSP00000332034:A124S;ENSP00000339123:A102S	.	A	-	1	0	PROSER1	38498524	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.019000	0.76412	2.720000	0.93068	0.650000	0.86243	GCT	-	NULL		0.388	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	protein_coding	OTTHUMT00000044607.5	C	NM_025138	-	Missense_Mutation	39600524	-1	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39600524	C	A	39600524	5	1	129	1	0	0	0	0	0	0	1	0	1723	753	26	3	2496	3	C13orf23	13	39600524	Splice_Site	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	6686965	39600524	75569354	51	9907											
LPAR6	10161	genome.wustl.edu	37	chr13	48986060	48986060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaattttcaaagcagGcttctgaggcattgttaccc	9	9	2	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:48986060G>T	ENST00000378434.4	-	7	2124	c.500C>A	c.(499-501)gCc>gAc	p.A167D	LPAR6_ENST00000345941.2_Missense_Mutation_p.A167D|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ttcaaagcaggCTTCTGAGGC	0.403																																																	19	Whole gene deletion(15)|Unknown(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139679						30	31	31					13																	48986060		2202	4300	6502	LPAR6	SO:0001583	missense	0			-	HGNC	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.500C>A	13.37:g.48986060G>T	ENSP00000367691:p.Ala167Asp	Somatic	0	84	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A167D	ENST00000378434.4	37	c.500	CCDS9410.1	13	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509987	0.44660	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.37752	1.18;1.18	5.94	5.94	0.96194	GPCR, rhodopsin-like superfamily (1);	0.266269	0.36778	N	0.002404	T	0.35856	0.0946	L	0.28192	0.835	0.44477	D	0.997418	B	0.24043	0.096	B	0.33042	0.157	T	0.13019	-1.0525	10	0.56958	D	0.05	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	167	P43657	LPAR6_HUMAN	D	167	ENSP00000367691:A167D;ENSP00000344353:A167D	ENSP00000344353:A167D	A	-	2	0	LPAR6	47884061	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.128000	0.57951	2.807000	0.96579	0.591000	0.81541	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR6	protein_coding	OTTHUMT00000276280.2	G	NM_005767	-		48986060	-1	no_errors	ENST00000345941	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48986060	G	T	48986060	3	4	129	1	0	0	0	0	1	0	0	0	8911	1203	42	3	538	3	LPAR6	13	48986060	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	9385536	48986060	66183818	52	9908											
LMO7	4008	genome.wustl.edu	37	chr13	76415869	76415869	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtccaagtcttcagacagaGaaggaacccgagcaggagaa	13	9	2	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:76415869G>T	ENST00000321797.8	+	22	3803	c.3082G>T	c.(3082-3084)Gaa>Taa	p.E1028*	LMO7_ENST00000526202.1_Nonsense_Mutation_p.E905*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.E1313*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E979*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1313*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1028*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1313					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGACAGAGAAGGAACCCG	0.532																																																	0								ENSG00000136153						97	98	97					13																	76415869		2203	4300	6503	LMO7	SO:0001587	stop_gained	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3082G>T	13.37:g.76415869G>T	ENSP00000317802:p.Glu1028*	Somatic	0	37	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP							pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E1313*	ENST00000321797.8	37	c.3937		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.274939|19.274939	0.99917|0.99917	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.471934|.	0.25839|.	N|.	0.027973|.	.|T	.|0.74527	.|0.3728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73075	.|-0.4097	.|4	0.40728|0.46703	T|T	0.16|0.11	-25.3782|-25.3782	17.1046|17.1046	0.86659|0.86659	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	979;1313;1313;927;1028;905;1028|936;196	.|.	ENSP00000317802:E1028X|ENSP00000388955:R936I	E|R	+|+	1|2	0|0	LMO7|LMO7	75313870|75313870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	5.352000|5.352000	0.66028|0.66028	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GAA|AGA	-	NULL		0.532	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	G	NM_005358	-		76415869	1	no_errors	ENST00000357063	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	76415869	G	T	76415869	4	4	129	1	0	0	0	0	0	1	0	0	8857	943	33	3	4035	3	LMO7	13	76415869	Nonsense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	27429809	76415869	38754009	53	9909											
COL4A1	1282	genome.wustl.edu	37	chr13	110815884	110815884	+	Frame_Shift_Del	DEL	G	G	-													caggaatacctggaggtccaGgtatacccaccaatcctgta							TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:110815884delG	ENST00000375820.4	-	47	4296	c.4175delC	c.(4174-4176)cctfs	p.P1392fs	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1392	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGAGGTCCAGGTATACCCAC	0.488																																																	0								ENSG00000187498						50	44	46					13																	110815884		2203	4300	6503	COL4A1	SO:0001589	frameshift_variant	0				HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4175delC	13.37:g.110815884delG	ENSP00000364979:p.Pro1392fs	Somatic	0	38	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Frame_Shift_Del	DEL							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1392fs	ENST00000375820.4	37	c.4175	CCDS9511.1	13																																																																																			-	pfam_Collagen		0.488	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	G				110815884	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	110815884	G	-	110815884	7	5	129	1	0	1	0	1	0	0	0	0	3691	1000	35	0	858	0	COL4A1	13	110815884	Frame_Shift_Del	DEL	G	TCGA-DX-AB35-01A-21D-A417-09	34400015	110815884	4353994	54	9910											
RYR3	6263	genome.wustl.edu	37	chr15	33858928	33858928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatggattaacactgcagaGatgccagcgtgaggagtccc	13	9	0	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:33858928G>T	ENST00000389232.4	+	12	1266	c.1196G>T	c.(1195-1197)aGa>aTa	p.R399I	RYR3_ENST00000415757.3_Missense_Mutation_p.R399I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	399	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)		ACACTGCAGAGATGCCAGCGT	0.507																																																	0								ENSG00000198838						176	180	179					15																	33858928		2128	4235	6363	RYR3	SO:0001583	missense	0			-	HGNC		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.1196G>T	15.37:g.33858928G>T	ENSP00000373884:p.Arg399Ile	Somatic	0	45	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	15	65.91	O15175|Q15412	Missense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R399I	ENST00000389232.4	37	c.1196	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205029	0.79127	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91792	-2.91;-2.91	4.43	4.43	0.53597	MIR motif (1);MIR (1);	0.122081	0.52532	D	0.000066	D	0.93354	0.7881	M	0.80982	2.52	0.58432	D	0.999999	P;B	0.46220	0.874;0.049	P;B	0.45712	0.491;0.026	D	0.94542	0.7746	10	0.66056	D	0.02	.	17.1922	0.86882	0.0:0.0:1.0:0.0	.	399;399	Q15413-2;Q15413	.;RYR3_HUMAN	I	399	ENSP00000373884:R399I;ENSP00000399610:R399I	ENSP00000354735:R399I	R	+	2	0	RYR3	31646220	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.295000	0.78780	2.459000	0.83118	0.650000	0.86243	AGA	-	superfamily_MIR_motif		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		33858928	1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33858928	G	T	33858928	3	4	129	1	0	0	0	0	1	0	0	0	13778	942	33	3	1242	3	RYR3	15	33858928	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		33858928	68672464	55	9911											
RYR3	6263	genome.wustl.edu	37	chr15	33941420	33941420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctaggggatgaaagaGgccgggtccatgaaaggtaa	14	8	1	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:33941420G>A	ENST00000389232.4	+	31	4196	c.4126G>A	c.(4126-4128)Ggc>Agc	p.G1376S	RYR3_ENST00000415757.3_Missense_Mutation_p.G1376S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1376	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		GGATGAAAGAGGCCGGGTCCA	0.532																																																	0								ENSG00000198838						99	102	101					15																	33941420		1904	4113	6017	RYR3	SO:0001583	missense	0			-	HGNC		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.4126G>A	15.37:g.33941420G>A	ENSP00000373884:p.Gly1376Ser	Somatic	0	60	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	O15175|Q15412	Missense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G1376S	ENST00000389232.4	37	c.4126	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.200263	0.94997	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.63255	-0.03;-0.03	5.18	5.18	0.71444	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	T	0.77198	0.4095	M	0.66378	2.025	0.80722	D	1	D;D	0.69078	0.997;0.976	D;P	0.64877	0.93;0.908	T	0.78321	-0.2249	10	0.59425	D	0.04	.	18.8751	0.92331	0.0:0.0:1.0:0.0	.	1376;1376	Q15413-2;Q15413	.;RYR3_HUMAN	S	1376	ENSP00000373884:G1376S;ENSP00000399610:G1376S	ENSP00000354735:G1376S	G	+	1	0	RYR3	31728712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.595000	0.98260	2.705000	0.92388	0.650000	0.86243	GGC	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		33941420	1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33941420	G	A	33941420	3	1	129	1	0	0	0	0	1	0	0	0	13778	1000	35	2	4248	2	RYR3	15	33941420	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	82492	33941420	68589972	56	9912											
TRAF7	84231	genome.wustl.edu	37	chr16	2220714	2220716	+	In_Frame_Del	DEL	GAG	GAG	-													gctccacattctcactgcccGaggaggaggaggagccggta							TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:2220714_2220716delGAG	ENST00000326181.6	+	5	463_465	c.331_333delGAG	c.(331-333)gagdel	p.E115del		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	115					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CTCACTGCCCGAGGAGGAGGAGG	0.69																																																	0								ENSG00000131653																																			TRAF7	SO:0001651	inframe_deletion	0				HGNC	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.331_333delGAG	16.37:g.2220723_2220725delGAG	ENSP00000318944:p.Glu115del	Somatic	0	32	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q9H073	In_Frame_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E114in_frame_del	ENST00000326181.6	37	c.331_333	CCDS10461.1	16																																																																																			-	NULL		0.69	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	protein_coding	OTTHUMT00000250762.1	GAG	NM_032271			2220716	1	no_errors	ENST00000326181	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	2220716	GAG	-	2220714	7	5	129	1	0	1	0	1	0	0	0	0	16453	1059	37	0	345	0	TRAF7	16	2220714	In_Frame_Del	DEL	GAG	TCGA-DX-AB35-01A-21D-A417-09		2220714	88134039	57	9913											
OR1F1	4992	genome.wustl.edu	37	chr16	3254696	3254696	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggttgctggattatgggtGgttgccaacctgaatgtcct	13	8	0	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:3254696G>T	ENST00000304646.2	+	1	450	c.450G>T	c.(448-450)gtG>gtT	p.V150V	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	150					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)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATTATGGGTGGTTGCCAACC	0.532																																																	0								ENSG00000168124						169	131	144					16																	3254696		2197	4300	6497	OR1F1	SO:0001819	synonymous_variant	0			-	HGNC	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.450G>T	16.37:g.3254696G>T		Somatic	0	25	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O15246|Q6IFL5	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V150	ENST00000304646.2	37	c.450	CCDS10496.1	16																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	protein_coding	OTTHUMT00000206985.1	G		-		3254696	1	no_errors	ENST00000304646	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3254696	G	T	3254696	2	4	129	1	0	0	0	0	0	0	0	1	10958	1335	47	3		3	OR1F1	16	3254696	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	1033982	3254696	87100057	58	9914											
ADCY7	113	genome.wustl.edu	37	chr16	50332919	50332919	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaactgcgtgaagatgggGctggacatgtgccaggccat	16	9	0	2			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:50332919G>T	ENST00000394697.2	+	8	1393	c.1053G>T	c.(1051-1053)ggG>ggT	p.G351G	ADCY7_ENST00000538642.1_Silent_p.G351G|ADCY7_ENST00000254235.3_Silent_p.G351G|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000537579.1_Silent_p.G351G|ADCY7_ENST00000566433.2_Silent_p.G351G			P51828	ADCY7_HUMAN	adenylate cyclase 7	351	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGAAGATGGGGCTGGACATGT	0.637																																																	0								ENSG00000121281						71	55	60					16																	50332919		2198	4300	6498	ADCY7	SO:0001819	synonymous_variant	0			-	HGNC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1053G>T	16.37:g.50332919G>T		Somatic	0	25	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A0AVA6	Silent	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G351	ENST00000394697.2	37	c.1053	CCDS10741.1	16																																																																																			-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.637	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	protein_coding	OTTHUMT00000256877.3	G		-		50332919	1	no_errors	ENST00000254235	ensembl	human	known	74_37	silent	SNP	0.958	T	T	50332919	G	T	50332919	2	4	129	1	0	0	0	0	0	0	0	1	299	1190	42	3		3	ADCY7	16	50332919	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	47078223	50332919	40021834	59	9915											
CDH1	999	genome.wustl.edu	37	chr16	68835608	68835608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccggtcgacaaaggacaGcctatttttccctcgacacc	8	15	0	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:68835608G>T	ENST00000261769.5	+	3	390	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	CDH1_ENST00000422392.2_Missense_Mutation_p.A67S|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	67					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACAAAGGACAGCCTATTTTTC	0.448			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"		E	2	Unknown(2)	breast(2)						ENSG00000039068						181	167	171					16																	68835608		2198	4300	6498	CDH1	SO:0001583	missense	0	Familial Cancer Database	HDGC	-	HGNC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.199G>T	16.37:g.68835608G>T	ENSP00000261769:p.Ala67Ser	Somatic	0	46	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A67S	ENST00000261769.5	37	c.199	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024062	0.19433	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.41400	1.0;1.0	5.43	5.43	0.79202	Cadherin prodomain-like (1);Cadherin-like (1);	0.604547	0.14511	N	0.315111	T	0.43545	0.1252	L	0.34521	1.04	0.09310	N	1	B;P	0.42161	0.029;0.772	B;P	0.49387	0.044;0.609	T	0.26189	-1.0110	10	0.21540	T	0.41	.	14.6467	0.68767	0.0:0.1464:0.8536:0.0	.	67;67	Q9UII8;P12830	.;CADH1_HUMAN	S	67	ENSP00000261769:A67S;ENSP00000414946:A67S	ENSP00000261769:A67S	A	+	1	0	CDH1	67393109	0.021000	0.18746	0.706000	0.30403	0.412000	0.31113	1.971000	0.40530	2.707000	0.92482	0.561000	0.74099	GCC	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like		0.448	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	protein_coding	OTTHUMT00000268897.2	G	NM_004360	-		68835608	1	no_errors	ENST00000261769	ensembl	human	known	74_37	missense	SNP	0.026	T	T	68835608	G	T	68835608	3	4	129	1	0	0	0	0	1	0	0	0	3097	971	34	3	209	3	CDH1	16	68835608	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	18502689	68835608	21519145	60	9916											
HYDIN	54768	genome.wustl.edu	37	chr16	70942292	70942292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagaagtgcacctgcaaCgttacctcgccattggctgg	12	11	0	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:70942292C>T	ENST00000393567.2	-	49	8409	c.8259G>A	c.(8257-8259)acG>acA	p.T2753T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2753					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)				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)				GCACCTGCAACGTTACCTCGC	0.502																																																	0								ENSG00000157423						7	7	7					16																	70942292		1756	3990	5746	HYDIN	SO:0001819	synonymous_variant	0			-	HGNC	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.8259G>A	16.37:g.70942292C>T		Somatic	0	40	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.T2753	ENST00000393567.2	37	c.8259	CCDS59269.1	16																																																																																			-	NULL		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C		-		70942292	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	SNP	0.000	T	T	70942292	C	T	70942292	2	4	129	1	0	0	0	0	0	0	0	1	7469	523	19	1		1	HYDIN	16	70942292	Silent	SNP	C	TCGA-DX-AB35-01A-21D-A417-09	2106684	70942292	19412461	61	9917											
FAM18B2	201158	genome.wustl.edu	37	chr17	15443775	15443775	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaactgctttccaaaatatGaagtagccatgctggttaaa	7	7	0	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:15443775G>A	ENST00000225576.3	-	5	558				TVP23C_ENST00000438826.3_Missense_Mutation_p.S188L|TVP23C_ENST00000518321.1_Missense_Mutation_p.S188L|TVP23C_ENST00000584811.1_Missense_Mutation_p.S124L|TVP23C_ENST00000519970.1_Missense_Mutation_p.S102L|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.S188L|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAAAATATGAAGTAGCCAT	0.378																																																	0								ENSG00000175106						38	31	33					17																	15443775		692	1578	2270	TVP23C	SO:0001627	intron_variant	0			-	HGNC	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+5323C>T	17.37:g.15443775G>A		Somatic	0	29	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q3LIC7	Missense_Mutation	SNP							pfam_DUF846_euk	p.S188L	ENST00000225576.3	37	c.563	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	.	13.18	2.161592	0.38119	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000557349;ENST00000519970;ENST00000428082;ENST00000438826	T;T;T	0.33438	2.36;1.41;1.41	5.36	4.39	0.52855	.	.	.	.	.	T	0.27798	0.0684	L	0.49513	1.565	0.37713	D	0.924658	B;B	0.15473	0.013;0.0	B;B	0.16722	0.016;0.004	T	0.18085	-1.0348	9	0.62326	D	0.03	.	8.262	0.31790	0.0801:0.0:0.7646:0.1553	.	102;188	B4E0Q0;Q96ET8-3	.;.	L	102;102;188;188	ENSP00000428961:S102L;ENSP00000406387:S188L;ENSP00000413355:S188L	ENSP00000406387:S188L	S	-	2	0	RP11-726O12.1;FAM18B2	15384500	1.000000	0.71417	0.116000	0.21606	0.611000	0.37282	3.371000	0.52379	1.404000	0.46819	0.650000	0.86243	TCA	-	NULL		0.378	TVP23C-001	KNOWN	basic|CCDS	protein_coding	TVP23C	protein_coding	OTTHUMT00000130705.2	G	NM_145301	-		15443775	-1	no_errors	ENST00000518321	ensembl	human	known	74_37	missense	SNP	0.959	A	A	15443775	G	A	15443775	1	1	129	0	1	0	0	0	0	0	0	0	5522	1294	45	2		2	FAM18B2	17	15443775	Intron	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		15443775	65751435	62	9918											
KIF18B	146909	genome.wustl.edu	37	chr17	43013433	43013433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctggaggaagctgtccaGgacgctgtgcgtggtgtgct	17	10	0	0			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:43013433G>T	ENST00000593135.1	-	2	377	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	KIF18B_ENST00000339151.4_Missense_Mutation_p.L94M|KIF18B_ENST00000590129.1_Missense_Mutation_p.L103M|KIF18B_ENST00000438933.2_Missense_Mutation_p.L94M|KIF18B_ENST00000587309.1_Missense_Mutation_p.L94M	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	103	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AAGCTGTCCAGGACGCTGTGC	0.607																																																	0								ENSG00000186185						51	58	56					17																	43013433		2177	4270	6447	KIF18B	SO:0001583	missense	0			-	HGNC		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.280C>A	17.37:g.43013433G>T	ENSP00000465992:p.Leu94Met	Somatic	0	48	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L94M	ENST00000593135.1	37	c.280	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260500	0.39995	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74842	-0.88;-0.88	5.25	5.25	0.73442	Kinesin, motor domain (4);	0.000000	0.29551	N	0.011838	D	0.88269	0.6391	M	0.91196	3.185	0.37259	D	0.906881	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.995;0.995;0.991	D	0.91737	0.5401	10	0.72032	D	0.01	.	13.563	0.61802	0.0775:0.0:0.9225:0.0	.	103;103;103	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	M	94	ENSP00000412798:L94M;ENSP00000341466:L94M	ENSP00000341466:L94M	L	-	1	2	KIF18B	40368959	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	1.713000	0.37951	2.630000	0.89119	0.555000	0.69702	CTG	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.607	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	protein_coding	OTTHUMT00000448724.1	G	NM_001080443	-		43013433	-1	no_errors	ENST00000339151	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43013433	G	T	43013433	3	4	129	1	0	0	0	0	1	0	0	0	8283	991	35	3	2346	3	KIF18B	17	43013433	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	27569658	43013433	38181777	63	9919											
DNAH17	9489	genome.wustl.edu	37	chr17	76420060	76420060	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggtcttcaagttaaagGtccagacataggtggggccg	13	8	2	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:76420060G>A	ENST00000262764.6	+	10	1707				DNAH17_ENST00000389840.5_Missense_Mutation_p.T4462I|PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron|DNAH17_ENST00000585328.1_Missense_Mutation_p.T4434I|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_5'Flank	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAAGTTAAAGGTCCAGACATA	0.552																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000187775						142	137	138					17																	76420060		2203	4300	6503	DNAH17	SO:0001627	intron_variant	0			-	HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1669-82G>A	17.37:g.76420060G>A		Somatic	0	35	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.T4462I	ENST00000262764.6	37	c.13385	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013048	0.93346	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09723	2.95	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000016	T	0.43456	0.1248	M	0.92691	3.335	0.53005	D	0.999969	D	0.57257	0.979	D	0.64877	0.93	T	0.55528	-0.8127	10	0.87932	D	0	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	4434	E7EUM8	.	I	4434;4462	ENSP00000374490:T4462I	ENSP00000300671:T4434I	T	-	2	0	DNAH17	73931655	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.050000	0.93843	2.713000	0.92767	0.655000	0.94253	ACC	-	pfam_Dynein_heavy_dom		0.552	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH17	protein_coding	OTTHUMT00000437301.1	G	NM_024419	-		76420060	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76420060	G	A	76420060	1	1	129	0	1	0	0	0	0	0	0	0	4603	1261	44	2		2	DNAH17	17	76420060	Intron	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	33406627	76420060	4775150	64	9920											
MRPL12	6182	genome.wustl.edu	37	chr17	79674001	79674001	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgtccgcctgaccgaggcGaagcccgtggacaaagtgaa	13	13	0	2	rs149365217		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:79674001G>A	ENST00000333676.3	+	4	556	c.411G>A	c.(409-411)gcG>gcA	p.A137A	SLC25A10_ENST00000541223.1_Silent_p.A137A|SLC25A10_ENST00000571730.1_Silent_p.A137A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	137					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A137A(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGACCGAGGCGAAGCCCGTGG	0.567																																																	1	Substitution - coding silent(1)	breast(1)						ENSG00000183048	G		1,4405	2.1+/-5.4	0,1,2202	75	62	67		411	-9.6	0	17	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/199	79674001	1,13005	2203	4300	6503	SLC25A10	SO:0001819	synonymous_variant	0			-	HGNC	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"Mitochondrial ribosomal proteins / large subunits"	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.411G>A	17.37:g.79674001G>A		Somatic	0	47	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A137	ENST00000333676.3	37	c.411	CCDS11785.1	17																																																																																			-	pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom		0.567	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	protein_coding	OTTHUMT00000440812.1	G	NM_002949	rs149365217		79674001	1	no_errors	ENST00000541223	ensembl	human	known	74_37	silent	SNP	0.034	A	A	79674001	G	A	79674001	2	1	129	1	0	0	0	0	0	0	0	1	9779	1045	37	1		1	MRPL12	17	79674001	Silent	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	3253941	79674001	1521209	65	9921											
SLC14A2	8170	genome.wustl.edu	37	chr18	43246109	43246109	+	Frame_Shift_Del	DEL	A	A	-													cttctaactccagtgtttggAaaaggcgaacaccaggaaag							TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr18:43246109delA	ENST00000255226.6	+	12	2298	c.1482delA	c.(1480-1482)ggafs	p.G494fs	SLC14A2_ENST00000586448.1_Frame_Shift_Del_p.G494fs|SLC14A2_ENST00000589658.1_5'UTR	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	494					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGTTTGGAAAAGGCGAAC	0.483											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132874						141	113	123					18																	43246109		2203	4300	6503	SLC14A2	SO:0001589	frameshift_variant	0				HGNC	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1482delA	18.37:g.43246109delA	ENSP00000255226:p.Gly494fs	Somatic	0	31	0	914	0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K8Q7|Q2TBD6|Q96PH5	Frame_Shift_Del	DEL							pfam_Urea_transporter	p.G496fs	ENST00000255226.6	37	c.1482	CCDS11924.1	18																																																																																			-	NULL		0.483	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	protein_coding	OTTHUMT00000255858.1	A				43246109	1	no_errors	ENST00000255226	ensembl	human	known	74_37	frame_shift_del	DEL	0.507	-	-	43246109	A	-	43246109	7	5	129	1	0	1	0	1	0	0	0	0	14405	233	9	0	1524	0	SLC14A2	18	43246109	Frame_Shift_Del	DEL	A	TCGA-DX-AB35-01A-21D-A417-09		43246109	34831139	66	9922											
DCAF15	90379	genome.wustl.edu	37	chr19	14070706	14070707	+	Splice_Site	INS	-	-	GGTGGGCCCAGGGCGGGCAG													tatgacatcgtcattctggaINSggtgggcccagggcgggcag					rs3217681|rs141180609|rs373011773	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr19:14070706_14070707insGGTGGGCCCAGGGCGGGCAG	ENST00000254337.6	+	9	1460_1461	c.1439_1440insGGTGGGCCCAGGGCGGGCAG	c.(1438-1443)gaggtc>gaGGTGGGCCCAGGGCGGGCAGggtc	p.-481fs		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15						protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTCATTCTGGAGGTGGGCCCAG	0.589											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1524	0.304313	0.2731	0.2277	5008	,	,		14914	0.3294		0.2843	False		,,,				2504	0.3957																0								ENSG00000132017																																			DCAF15	SO:0001630	splice_region_variant	0				HGNC	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1440+1->GGTGGGCCCAGGGCGGGCAG	19.37:g.14070706_14070707insGGTGGGCCCAGGGCGGGCAG		Somatic				692	0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KS86|Q96DW0|Q9BU31	Frame_Shift_Ins	INS							NULL	p.C482fs	ENST00000254337.6	37	c.1439_1440	CCDS32926.1	19																																																																																			-	NULL		0.589	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	protein_coding	OTTHUMT00000458099.1	-	NM_138353		Frame_Shift_Ins	14070707	1	no_errors	ENST00000254337	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	GGTGGGCCCAGGGCGGGCAG	GGTGGGCCCAGGGCGGGCAG	14070707	-	GGTGGGCCCAGGGCGGGCAG	14070706	8	5	129	1	0	1	1	0	0	0	1	0	4269	318	11	0	1473	0	DCAF15	19	14070706	Splice_Site	INS	-	TCGA-DX-AB35-01A-21D-A417-09		14070706	45058277	67	9923											
RELB	5971	genome.wustl.edu	37	chr19	45525438	45525438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcatctgcagggtgcGgctccggcctcacgtcagcc	14	16	3	0	rs55723886		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr19:45525438G>A	ENST00000221452.8	+	5	782	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RELB_ENST00000540120.1_Missense_Mutation_p.R211Q|RELB_ENST00000505236.1_Missense_Mutation_p.R208Q	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	211	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGCAGGGTGCGGCTCCGGCCT	0.647																																																	0								ENSG00000104856	G	GLN/ARG	0,4150		0,0,2075	43	50	48		632	4.7	1	19	dbSNP_129	48	1,8415		0,1,4207	no	missense	RELB	NM_006509.3	43	0,1,6282	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	211/580	45525438	1,12565	2075	4208	6283	RELB	SO:0001583	missense	0			-	HGNC	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.632G>A	19.37:g.45525438G>A	ENSP00000221452:p.Arg211Gln	Somatic	0	31	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q6GTX7|Q9UEI7	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R211Q	ENST00000221452.8	37	c.632	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098603	0.76870	0.0	1.19E-4	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.41065	1.01;1.01;1.01	4.74	4.74	0.60224	.	0.363608	0.25386	N	0.031049	T	0.35335	0.0928	L	0.28014	0.82	0.26734	N	0.970539	D	0.67145	0.996	P	0.47744	0.556	T	0.21621	-1.0240	10	0.51188	T	0.08	-10.885	11.0129	0.47673	0.0:0.1884:0.8116:0.0	rs55723886	208	D6R992	.	Q	211;211;208	ENSP00000221452:R211Q;ENSP00000445542:R211Q;ENSP00000423287:R208Q	ENSP00000221452:R211Q	R	+	2	0	RELB	50217278	0.057000	0.20700	0.999000	0.59377	0.946000	0.59487	0.890000	0.28295	2.449000	0.82847	0.462000	0.41574	CGG	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.647	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	protein_coding	OTTHUMT00000367361.2	G		rs55723886		45525438	1	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	SNP	0.995	A	A	45525438	G	A	45525438	3	1	129	1	0	0	0	0	1	0	0	0	13225	1116	39	1	642	1	RELB	19	45525438	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	31454732	45525438	13603545	68	9924											
POFUT2	23275	genome.wustl.edu	37	chr21	46705651	46705651	+	Frame_Shift_Del	DEL	A	A	-													ttattgagacttggaagatcAaaaaactcagaccagggaat							TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr21:46705651delA	ENST00000349485.5	-	2	350	c.324delT	c.(322-324)tttfs	p.F108fs	BX322557.10_ENST00000454115.2_RNA|POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Frame_Shift_Del_p.F108fs	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	108					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTGGAAGATCAAAAAACTCAG	0.562																																																	0								ENSG00000186866						91	102	99					21																	46705651		2203	4300	6503	POFUT2	SO:0001589	frameshift_variant	0				HGNC	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.324delT	21.37:g.46705651delA	ENSP00000339613:p.Phe108fs	Somatic	0	19	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Frame_Shift_Del	DEL							pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749	p.F108fs	ENST00000349485.5	37	c.324	CCDS13719.1	21																																																																																			-	pfam_GDP-Fuc_O-FucTrfase		0.562	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	protein_coding	OTTHUMT00000192573.2	A	NM_015227			46705651	-1	no_errors	ENST00000349485	ensembl	human	known	74_37	frame_shift_del	DEL	0.981	-	-	46705651	A	-	46705651	7	5	129	1	0	1	0	1	0	0	0	0	12186	127	5	0	1136	0	POFUT2	21	46705651	Frame_Shift_Del	DEL	A	TCGA-DX-AB35-01A-21D-A417-09		46705651	1424244	69	9925											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961202	73961202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaagggaagagtggcGgaatttgtcaggggtgaagt	17	4	2	3			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chrX:73961202G>A	ENST00000055682.6	-	3	3801	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1064					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAAGAGTGGCGGAATTTGTCA	0.493																																																	0								ENSG00000050030						85	80	82					X																	73961202		2203	4300	6503	KIAA2022	SO:0001583	missense	0			-	HGNC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3190C>T	X.37:g.73961202G>A	ENSP00000055682:p.Arg1064Cys	Somatic	0	16	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP							NULL	p.R1064C	ENST00000055682.6	37	c.3190	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388088	0.61956	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.56103	0.48;0.48	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65356	-0.6188	10	0.87932	D	0	-6.4016	13.0532	0.58966	0.0:0.0:0.8394:0.1606	.	1064	Q5QGS0	K2022_HUMAN	C	1064	ENSP00000362567:R1064C;ENSP00000055682:R1064C	ENSP00000055682:R1064C	R	-	1	0	KIAA2022	73877927	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.659000	0.68010	2.192000	0.70111	0.600000	0.82982	CGC	-	NULL		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	G	NM_001008537	-		73961202	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73961202	G	A	73961202	3	1	129	1	0	0	0	0	1	0	0	0	8271	1116	39	1	1368	1	KIAA2022	23	73961202	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09		73961202	81309358	70	9926											
PHF6	84295	genome.wustl.edu	37	chrX	133511710	133511710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaatgtggcttttgtaaGtcaaatagagacaaggaatg	11	5	1	1			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chrX:133511710G>T	ENST00000332070.3	+	2	265	c.63G>T	c.(61-63)aaG>aaT	p.K21N	PHF6_ENST00000370803.3_Missense_Mutation_p.K21N|PHF6_ENST00000370800.4_Missense_Mutation_p.K21N|PHF6_ENST00000394292.1_Missense_Mutation_p.K21N|PHF6_ENST00000416404.2_Missense_Mutation_p.K21N|PHF6_ENST00000370799.1_Missense_Mutation_p.K21N	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	21	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)					GCTTTTGTAAGTCAAATAGAG	0.413			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0								ENSG00000156531						99	89	92					X																	133511710		2203	4300	6503	PHF6	SO:0001583	missense	0			-	HGNC	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.63G>T	X.37:g.133511710G>T	ENSP00000329097:p.Lys21Asn	Somatic	0	38	0		0.716760749496122				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.K21N	ENST00000332070.3	37	c.63	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	g	10.56	1.383277	0.25031	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.1;-2.67;-1.95;-2.12	5.77	3.96	0.45880	.	0.039840	0.85682	D	0.000000	T	0.78489	0.4291	N	0.08118	0	0.36460	D	0.866633	B;B;B;B;B	0.19200	0.003;0.007;0.001;0.001;0.034	B;B;B;B;B	0.20767	0.015;0.011;0.002;0.002;0.031	T	0.73636	-0.3920	10	0.21540	T	0.41	-14.9557	9.2763	0.37700	0.3011:0.0:0.6989:0.0	.	21;21;21;21;21	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	N	21	ENSP00000359839:K21N;ENSP00000329097:K21N;ENSP00000377831:K21N;ENSP00000359835:K21N;ENSP00000394480:K21N;ENSP00000359836:K21N	ENSP00000329097:K21N	K	+	3	2	PHF6	133339376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.489000	0.35562	1.296000	0.44742	0.540000	0.68198	AAG	-	NULL		0.413	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458	-		133511710	1	no_errors	ENST00000394292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133511710	G	T	133511710	3	4	129	1	0	0	0	0	1	0	0	0	11840	1020	36	3	65	3	PHF6	23	133511710	Missense_Mutation	SNP	G	TCGA-DX-AB35-01A-21D-A417-09	59550508	133511710	21758850	71	9927											
DPH2	1802	genome.wustl.edu	37	chr1	44437362	44437362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaggatgagggtgcccGggctggacggctaagggcac	18	10	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr1:44437362G>A	ENST00000255108.3	+	4	960	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.R128Q|DPH2_ENST00000396758.2_Intron|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	263					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GAGGGTGCCCGGGCTGGACGG	0.622																																																	0								ENSG00000132768						50	54	53					1																	44437362		2203	4300	6503	DPH2	SO:0001583	missense	0			-	HGNC	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.788G>A	1.37:g.44437362G>A	ENSP00000255108:p.Arg263Gln	Somatic	0	28	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP							pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.R263Q	ENST00000255108.3	37	c.788	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	2.317	-0.356434	0.05138	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000459879	T;T;T	0.40756	1.02;1.02;1.02	4.58	1.67	0.24075	.	0.626322	0.17009	N	0.190581	T	0.16557	0.0398	N	0.04132	-0.27	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.27971	-1.0058	10	0.11182	T	0.66	-0.856	6.8436	0.23977	0.5628:0.0:0.4372:0.0	.	128;263	B4DNI8;Q9BQC3	.;DPH2_HUMAN	Q	263;128;36	ENSP00000255108:R263Q;ENSP00000413862:R128Q;ENSP00000432162:R36Q	ENSP00000255108:R263Q	R	+	2	0	DPH2	44209949	0.001000	0.12720	0.065000	0.19835	0.026000	0.11368	0.817000	0.27281	0.182000	0.20032	-0.277000	0.10078	CGG	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	protein_coding	OTTHUMT00000022832.1	G	NM_001384	-		44437362	1	no_errors	ENST00000255108	ensembl	human	known	74_37	missense	SNP	0.001	A	A	44437362	G	A	44437362	3	1	130	1	0	0	0	0	1	0	0	0	4722	1116	39	1	802	1	DPH2	1	44437362	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		44437362	204813259	1	9928											
RYR2	6262	genome.wustl.edu	37	chr1	237843759	237843759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcctttctttcaggtcGttcttcctttaattgatcag	5	10	4	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr1:237843759G>A	ENST00000366574.2	+	62	9216	c.8899G>A	c.(8899-8901)Gtt>Att	p.V2967I	RYR2_ENST00000360064.6_Missense_Mutation_p.V2965I|RYR2_ENST00000542537.1_Missense_Mutation_p.V2951I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2967					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTCAGGTCGTTCTTCCTTT	0.428																																																	0								ENSG00000198626						163	134	143					1																	237843759		1888	4115	6003	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8899G>A	1.37:g.237843759G>A	ENSP00000355533:p.Val2967Ile	Somatic	0	34	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V2965I	ENST00000366574.2	37	c.8893	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950197	0.53186	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;D	0.97016	-0.03;-4.19;-4.21	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000039	D	0.92299	0.7557	L	0.35542	1.07	0.80722	D	1	P	0.50710	0.938	B	0.36030	0.216	D	0.92907	0.6344	10	0.54805	T	0.06	.	15.615	0.76760	0.0:0.1367:0.8633:0.0	.	2967	Q92736	RYR2_HUMAN	I	2967;2965;2951	ENSP00000355533:V2967I;ENSP00000353174:V2965I;ENSP00000443798:V2951I	ENSP00000353174:V2965I	V	+	1	0	RYR2	235910382	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	3.170000	0.50816	2.760000	0.94817	0.655000	0.94253	GTT	-	NULL		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237843759	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	0.984	A	A	237843759	G	A	237843759	3	1	130	1	0	0	0	0	1	0	0	0	13777	1145	40	1	9145	1	RYR2	1	237843759	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	193406397	237843759	11406862	2	9929											
EFEMP1	2202	genome.wustl.edu	37	chr2	56103828	56103828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaatgaaccaagaatGttgtagcactgctgagcaca	10	8	0	5			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr2:56103828G>T	ENST00000394555.2	-	7	1245	c.810C>A	c.(808-810)aaC>aaA	p.N270K	EFEMP1_ENST00000355426.3_Missense_Mutation_p.N270K|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000394554.1_Missense_Mutation_p.N270K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	270	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACCAAGAATGTTGTAGCACT	0.338																																					GBM(92;934 1319 7714 28760 40110)												0								ENSG00000115380						128	113	118					2																	56103828		2203	4300	6503	EFEMP1	SO:0001583	missense	0			-	HGNC	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.810C>A	2.37:g.56103828G>T	ENSP00000378058:p.Asn270Lys	Somatic	0	45	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.N270K	ENST00000394555.2	37	c.810	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912493	0.52439	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.89050	-2.46;-2.46;-2.46	5.73	3.64	0.41730	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.96197	0.8760	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94739	0.7917	10	0.87932	D	0	.	6.3243	0.21234	0.3445:0.0:0.6555:0.0	.	270	Q12805	FBLN3_HUMAN	K	270;270;126;270	ENSP00000378058:N270K;ENSP00000378057:N270K;ENSP00000347596:N270K	ENSP00000347596:N270K	N	-	3	2	EFEMP1	55957332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.651000	0.37302	1.337000	0.45525	0.650000	0.86243	AAC	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.338	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	protein_coding	OTTHUMT00000251491.2	G		-		56103828	-1	no_errors	ENST00000355426	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56103828	G	T	56103828	3	4	130	1	0	0	0	0	1	0	0	0	4943	1368	48	3	691	3	EFEMP1	2	56103828	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		56103828	187095545	3	9930											
SPR	6697	genome.wustl.edu	37	chr2	73115591	73115591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctggcctcaacagaacCgtggttaacatctcgtccct	8	14	2	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr2:73115591C>T	ENST00000234454.5	+	2	526	c.453C>T	c.(451-453)acC>acT	p.T151T	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	151					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						TCAACAGAACCGTGGTTAACA	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000116096						162	141	148					2																	73115591		2203	4300	6503	SPR	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.453C>T	2.37:g.73115591C>T		Somatic	0	54	0	1142	0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	13	51.85	A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red	p.T151	ENST00000234454.5	37	c.453	CCDS1920.1	2																																																																																			-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_Sepiapterin_red		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPR	protein_coding	OTTHUMT00000251993.2	C		-		73115591	1	no_errors	ENST00000234454	ensembl	human	known	74_37	silent	SNP	0.000	T	T	73115591	C	T	73115591	2	4	130	1	0	0	0	0	0	0	0	1	15098	639	23	1		1	SPR	2	73115591	Silent	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	17011763	73115591	170083782	4	9931											
CSRNP3	80034	genome.wustl.edu	37	chr2	166536009	166536009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaacccctctgtaatcGtttgctgctcctcttccgaa	6	16	2	0			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr2:166536009G>A	ENST00000342316.4	+	5	1776	c.1504G>A	c.(1504-1506)Gtt>Att	p.V502I	CSRNP3_ENST00000409420.1_Missense_Mutation_p.V534I|CSRNP3_ENST00000314499.7_Missense_Mutation_p.V502I	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	502					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTCTGTAATCGTTTGCTGCTC	0.507																																																	0								ENSG00000178662						89	75	80					2																	166536009		2203	4300	6503	CSRNP3	SO:0001583	missense	0			-	HGNC	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1504G>A	2.37:g.166536009G>A	ENSP00000344042:p.Val502Ile	Somatic	0	27	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP							prints_Cys/Ser-rich_nuc_prot	p.V502I	ENST00000342316.4	37	c.1504	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825289	0.32237	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.49432	0.78;0.78;0.78	5.88	5.88	0.94601	.	0.182840	0.43579	D	0.000554	T	0.36276	0.0961	L	0.27053	0.805	0.37107	D	0.900175	B	0.31581	0.329	B	0.22880	0.042	T	0.24621	-1.0155	9	.	.	.	-17.3619	20.2422	0.98381	0.0:0.0:1.0:0.0	.	502	Q8WYN3	CSRN3_HUMAN	I	502;502;534	ENSP00000318258:V502I;ENSP00000344042:V502I;ENSP00000387195:V534I	.	V	+	1	0	CSRNP3	166244255	0.996000	0.38824	0.916000	0.36221	0.933000	0.57130	2.615000	0.46368	2.782000	0.95742	0.655000	0.94253	GTT	-	NULL		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	protein_coding	OTTHUMT00000255191.2	G	NM_024969	-		166536009	1	no_errors	ENST00000314499	ensembl	human	known	74_37	missense	SNP	0.893	A	A	166536009	G	A	166536009	3	1	130	1	0	0	0	0	1	0	0	0	3967	1145	40	1	1518	1	CSRNP3	2	166536009	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	93420418	166536009	76663364	5	9932											
C3orf20	84077	genome.wustl.edu	37	chr3	14725834	14725834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggagatggccttcaaCtgcctgatcagcacagccgg	12	13	2	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr3:14725834C>T	ENST00000253697.3	+	4	1022	c.570C>T	c.(568-570)aaC>aaT	p.N190N	C3orf20_ENST00000435614.1_Silent_p.N68N|C3orf20_ENST00000412910.1_Silent_p.N68N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	190						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGGCCTTCAACTGCCTGATCA	0.542																																																	0								ENSG00000131379						123	105	111					3																	14725834		2203	4300	6503	C3orf20	SO:0001819	synonymous_variant	0			-	HGNC	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.570C>T	3.37:g.14725834C>T		Somatic	0	39	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP							NULL	p.N190	ENST00000253697.3	37	c.570	CCDS33706.1	3																																																																																			-	NULL		0.542	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	protein_coding	OTTHUMT00000340586.1	C	NM_032137	-		14725834	1	no_errors	ENST00000253697	ensembl	human	known	74_37	silent	SNP	0.001	T	T	14725834	C	T	14725834	2	4	130	1	0	0	0	0	0	0	0	1	2215	564	20	2		2	C3orf20	3	14725834	Silent	SNP	C	TCGA-DX-AB36-01A-11D-A417-09		14725834	183296596	6	9933											
SLC35A5	55032	genome.wustl.edu	37	chr3	112300024	112300024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggtctttgacttcAggccctccctggaatttttc	8	13	2	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr3:112300024A>G	ENST00000492406.1	+	6	1343	c.1060A>G	c.(1060-1062)Agg>Ggg	p.R354G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	354					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTTGACTTCAGGCCCTCCCT	0.458																																																	0								ENSG00000138459						68	68	68					3																	112300024		2203	4299	6502	SLC35A5	SO:0001583	missense	0			-	HGNC	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1060A>G	3.37:g.112300024A>G	ENSP00000417654:p.Arg354Gly	Somatic	0	39	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Splice_Site	SNP							-	e6-2	ENST00000492406.1	37	c.590-2	CCDS2967.1	3	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294178	0.60086	.	.	ENSG00000138459	ENST00000492406	T	0.45668	0.89	5.77	4.6	0.57074	.	0.282543	0.46145	D	0.000309	T	0.39064	0.1064	M	0.64997	1.995	0.41381	D	0.987555	P	0.38677	0.642	B	0.34418	0.182	T	0.24190	-1.0167	9	.	.	.	-2.2642	13.3771	0.60745	0.8685:0.1315:0.0:0.0	.	354	Q9BS91	S35A5_HUMAN	G	354	ENSP00000417654:R354G	.	R	+	1	2	SLC35A5	113782714	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.060000	0.64312	1.093000	0.41377	0.477000	0.44152	AGG	-	-		0.458	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	protein_coding	OTTHUMT00000354184.1	A	NM_017945	-		112300024	1	no_errors	ENST00000261034	ensembl	human	known	74_37	splice_site	SNP	0.998	G	G	112300024	A	G	112300024	3	3	130	1	0	0	0	0	1	0	0	0	14582	179	7	5	1078	5	SLC35A5	3	112300024	Missense_Mutation	SNP	A	TCGA-DX-AB36-01A-11D-A417-09	97574190	112300024	85722406	7	9934											
CDV3	55573	genome.wustl.edu	37	chr3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-													acttctttgccaagagggacAagaagaagaagaaggagcgg							TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr3:133292940_133292942delAAG	ENST00000264993.3	+	1	367_369	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_ENST00000515421.1_5'Flank|CDV3_ENST00000431519.2_In_Frame_Del_p.K22del|CDV3_ENST00000508481.1_5'Flank|CDV3_ENST00000511392.1_5'Flank|CDV3_ENST00000420115.2_5'Flank	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	22	Poly-Lys.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744																																																	0								ENSG00000091527		,	27,3461		1,25,1718					,	1.8	1			4	68,7044		3,62,3491	no	coding,coding	CDV3	NM_017548.4,NM_001134422.1	,	4,87,5209	A1A1,A1R,RR		0.9561,0.7741,0.8962	,	,		95,10505				CDV3	SO:0001651	inframe_deletion	0				HGNC	AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.52_54delAAG	3.37:g.133292949_133292951delAAG	ENSP00000264993:p.Lys22del	Somatic	0	10	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	8	20.00	B3KUC2|Q96IP9	In_Frame_Del	DEL							NULL	p.K21in_frame_del	ENST00000264993.3	37	c.52_54	CCDS3079.1	3																																																																																			-	NULL		0.744	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDV3	protein_coding	OTTHUMT00000357203.1	AAG	NM_017548			133292942	1	no_errors	ENST00000264993	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	133292942	AAG	-	133292940	7	5	130	1	0	1	0	1	0	0	0	0	3183	131	5	0	54	0	CDV3	3	133292940	In_Frame_Del	DEL	AAG	TCGA-DX-AB36-01A-11D-A417-09	20992916	133292940	64729490	8	9935											
SLC2A9	56606	genome.wustl.edu	37	chr4	9943604	9943604	+	Frame_Shift_Del	DEL	A	A	-													gggctgtccgggagaaagggAaggctcagcagctggacaac							TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr4:9943604delA	ENST00000264784.3	-	6	800	c.747delT	c.(745-747)cttfs	p.L249fs	SLC2A9_ENST00000309065.3_Frame_Shift_Del_p.L220fs|SLC2A9_ENST00000506583.1_Frame_Shift_Del_p.L220fs	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	249					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)	GGAGAAAGGGAAGGCTCAGCA	0.587																																																	0								ENSG00000109667						125	94	105					4																	9943604		2203	4300	6503	SLC2A9	SO:0001589	frameshift_variant	0				HGNC	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.747delT	4.37:g.9943604delA	ENSP00000264784:p.Leu249fs	Somatic	0	54	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Frame_Shift_Del	DEL							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.L252fs	ENST00000264784.3	37	c.747	CCDS3407.1	4																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.587	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	protein_coding	OTTHUMT00000207055.1	A				9943604	-1	no_errors	ENST00000264784	ensembl	human	known	74_37	frame_shift_del	DEL	0.990	-	-	9943604	A	-	9943604	7	5	130	1	0	1	0	1	0	0	0	0	14560	233	9	0	903	0	SLC2A9	4	9943604	Frame_Shift_Del	DEL	A	TCGA-DX-AB36-01A-11D-A417-09		9943604	181210672	9	9936											
CHRNA9	55584	genome.wustl.edu	37	chr4	40356073	40356073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgaatatccacttcTgtggggccgaggcccggccg	15	11	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr4:40356073T>C	ENST00000310169.2	+	5	1115	c.976T>C	c.(976-978)Tgt>Cgt	p.C326R		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	326					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TATCCACTTCTGTGGGGCCGA	0.517																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0								ENSG00000174343						146	150	148					4																	40356073		2203	4300	6503	CHRNA9	SO:0001583	missense	0			-	HGNC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.976T>C	4.37:g.40356073T>C	ENSP00000312663:p.Cys326Arg	Somatic	0	45	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.C326R	ENST00000310169.2	37	c.976	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384141	0.42308	.	.	ENSG00000174343	ENST00000310169	T	0.81247	-1.47	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	N	0.12502	0.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73100	-0.4089	10	0.02654	T	1	.	15.9994	0.80280	0.0:0.0:0.0:1.0	.	326	Q9UGM1	ACHA9_HUMAN	R	326	ENSP00000312663:C326R	ENSP00000312663:C326R	C	+	1	0	CHRNA9	40050830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.187000	0.69744	0.459000	0.35465	TGT	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.517	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	protein_coding	OTTHUMT00000216822.1	T		-		40356073	1	no_errors	ENST00000310169	ensembl	human	known	74_37	missense	SNP	1.000	C	C	40356073	T	C	40356073	3	2	130	1	0	0	0	0	1	0	0	0	3391	1580	55	5	994	5	CHRNA9	4	40356073	Missense_Mutation	SNP	T	TCGA-DX-AB36-01A-11D-A417-09	30412469	40356073	150798203	10	9937											
NDST3	9348	genome.wustl.edu	37	chr4	118975508	118975508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatggattcctggaatcgaaGccttctagataaatactgtg	9	7	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr4:118975508G>T	ENST00000296499.5	+	2	846	c.443G>T	c.(442-444)aGc>aTc	p.S148I	NDST3_ENST00000433996.2_Missense_Mutation_p.S148I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	148	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGGAATCGAAGCCTTCTAGAT	0.348																																																	0								ENSG00000164100						44	46	45					4																	118975508		2203	4297	6500	NDST3	SO:0001583	missense	0			-	HGNC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.443G>T	4.37:g.118975508G>T	ENSP00000296499:p.Ser148Ile	Somatic	0	88	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S148I	ENST00000296499.5	37	c.443	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658666	0.47467	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.44881	1.24;0.91	5.3	5.3	0.74995	.	0.225469	0.47852	D	0.000212	T	0.33089	0.0851	N	0.08118	0	0.39826	D	0.972902	B;B;D	0.59767	0.371;0.288;0.986	B;B;P	0.51016	0.291;0.393;0.656	T	0.37526	-0.9702	10	0.72032	D	0.01	.	12.3079	0.54912	0.0775:0.0:0.9225:0.0	.	148;148;148	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	I	148	ENSP00000296499:S148I;ENSP00000396625:S148I	ENSP00000296499:S148I	S	+	2	0	NDST3	119194956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.217000	0.58547	2.464000	0.83262	0.655000	0.94253	AGC	-	pfam_Heparan_SO4_deacetylase		0.348	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	protein_coding	OTTHUMT00000256517.4	G	NM_004784	-		118975508	1	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118975508	G	T	118975508	3	4	130	1	0	0	0	0	1	0	0	0	10259	971	34	3	445	3	NDST3	4	118975508	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	78619435	118975508	72178768	11	9938											
ISOC1	51015	genome.wustl.edu	37	chr5	128440685	128440685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttacaccttcaagcactGtgtttttctgctgtgatatg	7	9	3	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr5:128440685G>T	ENST00000173527.5	+	2	362	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	116						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TTCAAGCACTGTGTTTTTCTG	0.388																																																	0								ENSG00000066583						201	188	192					5																	128440685		1871	4111	5982	ISOC1	SO:0001583	missense	0			-	HGNC	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.346G>T	5.37:g.128440685G>T	ENSP00000173527:p.Val116Leu	Somatic	0	54	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q7Z770	Missense_Mutation	SNP							pfam_Isochorismatase-like,superfamily_Isochorismatase-like	p.V116L	ENST00000173527.5	37	c.346	CCDS43357.1	5	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365215	0.61513	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.86	4.86	0.63082	Isochorismatase-like (3);	0.000000	0.64402	D	0.000002	T	0.40886	0.1135	N	0.10664	0.02	0.58432	D	0.999997	B	0.29766	0.256	B	0.33960	0.173	T	0.27226	-1.0080	8	.	.	.	-18.4648	18.567	0.91120	0.0:0.0:1.0:0.0	.	116	Q96CN7	ISOC1_HUMAN	L	95;107;116;107	.	.	V	+	1	0	ISOC1	128468584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.693000	0.91288	2.709000	0.92574	0.655000	0.94253	GTG	-	pfam_Isochorismatase-like,superfamily_Isochorismatase-like		0.388	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISOC1	protein_coding	OTTHUMT00000371826.1	G	NM_016048	-		128440685	1	no_errors	ENST00000173527	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128440685	G	T	128440685	3	4	130	1	0	0	0	0	1	0	0	0	7864	1377	48	3	352	3	ISOC1	5	128440685	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		128440685	52474575	12	9939											
HIST1H1D	3007	genome.wustl.edu	37	chr6	26235042	26235042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgataagctcagatacTgggggtccggatgctttgcg	15	7	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:26235042T>C	ENST00000244534.5	-	1	174	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	40	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCTCAGATACTGGGGGTCCGG	0.562																																																	0								ENSG00000124575						90	88	89					6																	26235042		2203	4300	6503	HIST1H1D	SO:0001819	synonymous_variant	0			-	HGNC	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.120A>G	6.37:g.26235042T>C		Somatic	0	67	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R751|Q2M2I2	Silent	SNP							pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.P40	ENST00000244534.5	37	c.120	CCDS4597.1	6																																																																																			-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5		0.562	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1D	protein_coding	OTTHUMT00000040095.1	T	NM_005320	-		26235042	-1	no_errors	ENST00000244534	ensembl	human	known	74_37	silent	SNP	1.000	C	C	26235042	T	C	26235042	2	2	130	1	0	0	0	0	0	0	0	1	7127	1567	55	5		5	HIST1H1D	6	26235042	Silent	SNP	T	TCGA-DX-AB36-01A-11D-A417-09		26235042	144880025	13	9940											
BTN1A1	696	genome.wustl.edu	37	chr6	26508941	26508941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgactgggcaatcggcGtgtgtagggagaatgtgatg	18	5	0	3			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:26508941G>A	ENST00000244513.6	+	7	1186	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	374	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGCAATCGGCGTGTGTAGGGA	0.542																																																	0								ENSG00000124557						164	145	152					6																	26508941		2203	4300	6503	BTN1A1	SO:0001583	missense	0			-	HGNC	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1120G>A	6.37:g.26508941G>A	ENSP00000244513:p.Val374Met	Somatic	0	44	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.V374M	ENST00000244513.6	37	c.1120	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306882	0.60305	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.74421	-0.84	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000063	D	0.87087	0.6090	M	0.88377	2.95	0.51012	D	0.9999	D	0.89917	1.0	D	0.87578	0.998	D	0.88814	0.3294	10	0.87932	D	0	.	17.1811	0.86855	0.0:0.0:1.0:0.0	.	374	Q13410	BT1A1_HUMAN	M	374	ENSP00000244513:V374M	ENSP00000244513:V374M	V	+	1	0	BTN1A1	26616920	1.000000	0.71417	0.919000	0.36401	0.093000	0.18481	4.612000	0.61169	2.727000	0.93392	0.655000	0.94253	GTG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.542	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	protein_coding	OTTHUMT00000043776.1	G	NM_001732	-		26508941	1	no_errors	ENST00000244513	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26508941	G	A	26508941	3	1	130	1	0	0	0	0	1	0	0	0	1561	1145	40	1	1146	1	BTN1A1	6	26508941	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	273899	26508941	144606126	14	9941											
COL12A1	1303	genome.wustl.edu	37	chr6	75814960	75814960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtccaacgctgtcctGtgtacatgtgcaagaatttg	12	8	0	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:75814960G>T	ENST00000322507.8	-	54	8536	c.8227C>A	c.(8227-8229)Cag>Aag	p.Q2743K	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2743K|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q1579K|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2667K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2743	Nonhelical region (NC3).				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						ACGCTGTCCTGTGTACATGTG	0.373																																																	0								ENSG00000111799						63	78	74					6																	75814960		1869	4114	5983	COL12A1	SO:0001583	missense	0			-	HGNC	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.8227C>A	6.37:g.75814960G>T	ENSP00000325146:p.Gln2743Lys	Somatic	0	28	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.Q2743K	ENST00000322507.8	37	c.8227	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486551	0.63962	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.62	5.62	0.85841	.	0.128293	0.52532	D	0.000073	D	0.94621	0.8266	M	0.61703	1.905	0.40575	D	0.981338	D;P	0.53745	0.962;0.86	P;B	0.46659	0.523;0.4	D	0.94831	0.7996	10	0.62326	D	0.03	.	19.6611	0.95871	0.0:0.0:1.0:0.0	.	1579;2743	Q99715-2;Q99715	.;COCA1_HUMAN	K	2743;381;2667;1579;2667;2743	ENSP00000325146:Q2743K;ENSP00000399812:Q381K;ENSP00000305147:Q1579K;ENSP00000412864:Q2667K;ENSP00000421216:Q2743K	ENSP00000325146:Q2743K	Q	-	1	0	COL12A1	75871680	1.000000	0.71417	0.978000	0.43139	0.661000	0.39034	6.998000	0.76277	2.643000	0.89663	0.655000	0.94253	CAG	-	NULL		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	G	NM_004370	-		75814960	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	SNP	0.999	T	T	75814960	G	T	75814960	3	4	130	1	0	0	0	0	1	0	0	0	3671	1386	48	3	1016	3	COL12A1	6	75814960	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	49306019	75814960	95300107	15	9942											
RPF2	84154	genome.wustl.edu	37	chr6	111346637	111346637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatatttcccatgataCttttggtacaacttatggaa	6	6	0	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:111346637C>G	ENST00000441448.2	+	10	865	c.773C>G	c.(772-774)aCt>aGt	p.T258S		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	258						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TCCCATGATACTTTTGGTACA	0.358																																																	0								ENSG00000197498						79	82	81					6																	111346637		2203	4300	6503	RPF2	SO:0001583	missense	0			-	HGNC	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.773C>G	6.37:g.111346637C>G	ENSP00000402338:p.Thr258Ser	Somatic	0	30	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	Q5VXN1|Q8N4A1	Missense_Mutation	SNP							pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.T258S	ENST00000441448.2	37	c.773	CCDS5088.1	6	.	.	.	.	.	.	.	.	.	.	c	10.23	1.292566	0.23564	.	.	ENSG00000197498	ENST00000441448	T	0.71698	-0.59	5.8	4.93	0.64822	.	0.100576	0.64402	D	0.000002	T	0.31734	0.0806	L	0.28608	0.87	0.31528	N	0.661575	B;B	0.25441	0.016;0.126	B;B	0.21546	0.005;0.035	T	0.08146	-1.0736	10	0.10377	T	0.69	-12.7754	7.7445	0.28860	0.1601:0.7374:0.0:0.1026	.	258;258	A8K800;Q9H7B2	.;RPF2_HUMAN	S	258	ENSP00000402338:T258S	ENSP00000402338:T258S	T	+	2	0	RPF2	111453330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.271000	0.43364	1.453000	0.47775	0.563000	0.77884	ACT	-	NULL		0.358	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF2	protein_coding	OTTHUMT00000041813.2	C	NM_032194	-		111346637	1	no_errors	ENST00000441448	ensembl	human	known	74_37	missense	SNP	1.000	G	G	111346637	C	G	111346637	3	3	130	1	0	0	0	0	1	0	0	0	13555	565	20	4	811	4	RPF2	6	111346637	Missense_Mutation	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	35531677	111346637	59768430	16	9943											
FRK	2444	genome.wustl.edu	37	chr6	116381270	116381270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtgtccagaacttgaaGtttgtcacctgctcggaagc	10	10	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:116381270G>A	ENST00000606080.1	-	1	651	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	69	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGAACTTGAAGTTTGTCACCT	0.507																																																	0								ENSG00000111816						131	130	131					6																	116381270		2203	4300	6503	FRK	SO:0001583	missense	0			-	HGNC	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.205C>T	6.37:g.116381270G>A	ENSP00000476145:p.Leu69Phe	Somatic	0	26	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L69F	ENST00000606080.1	37	c.205	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345016	0.24426	.	.	ENSG00000111816	ENST00000368626	T	0.38887	1.11	4.74	3.87	0.44632	Src homology-3 domain (5);	0.134545	0.32041	N	0.006679	T	0.39306	0.1073	L	0.41027	1.25	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.16778	-1.0391	10	0.31617	T	0.26	.	11.6729	0.51413	0.0828:0.0:0.9172:0.0	.	69	P42685	FRK_HUMAN	F	69	ENSP00000357615:L69F	ENSP00000357615:L69F	L	-	1	0	FRK	116487963	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	3.863000	0.56016	1.344000	0.45657	-0.140000	0.14226	CTT	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.507	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	protein_coding	OTTHUMT00000041924.2	G	NM_002031	-		116381270	-1	no_errors	ENST00000606080	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116381270	G	A	116381270	3	1	130	1	0	0	0	0	1	0	0	0	6050	1029	36	2	1344	2	FRK	6	116381270	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	5034633	116381270	54733797	17	9944											
EYA4	2070	genome.wustl.edu	37	chr6	133804184	133804184	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcgtgtgtttgtctgGgatttggatgaaaccatcat	11	7	3	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:133804184G>A	ENST00000367895.5	+	13	1586	c.1122G>A	c.(1120-1122)tgG>tgA	p.W374*	EYA4_ENST00000355167.3_Nonsense_Mutation_p.W374*|EYA4_ENST00000355286.6_Nonsense_Mutation_p.W351*|EYA4_ENST00000525849.1_Nonsense_Mutation_p.W351*|EYA4_ENST00000531901.1_Nonsense_Mutation_p.W380*|EYA4_ENST00000431403.2_Nonsense_Mutation_p.W374*|EYA4_ENST00000430974.2_Nonsense_Mutation_p.W326*|EYA4_ENST00000452339.2_Nonsense_Mutation_p.W320*	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	374					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)		TGTTTGTCTGGGATTTGGATG	0.368																																					Melanoma(57;398 1237 3528 4702 7415)												0								ENSG00000112319						130	125	127					6																	133804184		2203	4300	6503	EYA4	SO:0001587	stop_gained	0			-	HGNC	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.1122G>A	6.37:g.133804184G>A	ENSP00000356870:p.Trp374*	Somatic	0	62	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Nonsense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.W374*	ENST00000367895.5	37	c.1122	CCDS5165.1	6	.	.	.	.	.	.	.	.	.	.	G	43	9.984172	0.99310	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.104	19.5117	0.95144	0.0:0.0:1.0:0.0	.	.	.	.	X	320;326;374;374;351;380;351;374	.	ENSP00000347294:W374X	W	+	3	0	EYA4	133845877	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.604000	0.88044	0.650000	0.86243	TGG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA		0.368	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	protein_coding	OTTHUMT00000042282.2	G	NM_004100	-		133804184	1	no_errors	ENST00000355167	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	133804184	G	A	133804184	4	1	130	1	0	0	0	0	0	1	0	0	5333	1241	43	2	1168	2	EYA4	6	133804184	Nonsense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	17422914	133804184	37310883	18	9945											
SYNE1	23345	genome.wustl.edu	37	chr6	152697665	152697665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaatctgttctttattctGgcagcccttggatgcttgca	8	9	3	0			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr6:152697665G>A	ENST00000367255.5	-	58	9776	c.9175C>T	c.(9175-9177)Cag>Tag	p.Q3059*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q3098*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3066*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3059*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3066*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3059					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)		TCTTTATTCTGGCAGCCCTTG	0.383										HNSCC(10;0.0054)																																							0								ENSG00000131018						62	64	63					6																	152697665		2203	4300	6503	SYNE1	SO:0001587	stop_gained	0			-	HGNC	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.9175C>T	6.37:g.152697665G>A	ENSP00000356224:p.Gln3059*	Somatic	0	103	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	36.00	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q3059*	ENST00000367255.5	37	c.9175	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	33	5.231761	0.95207	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	.	.	.	X	3059;3066;3059;3066;3098	.	ENSP00000265368:Q3059X	Q	-	1	0	SYNE1	152739358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.397000	0.97276	2.707000	0.92482	0.655000	0.94253	CAG	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152697665	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	152697665	G	A	152697665	4	1	130	1	0	0	0	0	0	1	0	0	15452	1357	47	2	17647	2	SYNE1	6	152697665	Nonsense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	18893481	152697665	18417402	19	9946											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95726883	95726883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgatagcgaggaggaagGcactgttgagttatctgcct	14	7	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr7:95726883G>A	ENST00000324972.6	+	17	2109	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G602D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G622D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G619D|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G622D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	639					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAGGAGGAAGGCACTGTTGAG	0.517																																																	0								ENSG00000158560						137	124	129					7																	95726883		2203	4300	6503	DYNC1I1	SO:0001583	missense	0			-	HGNC	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1916G>A	7.37:g.95726883G>A	ENSP00000320130:p.Gly639Asp	Somatic	0	43	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP							pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G639D	ENST00000324972.6	37	c.1916	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744512	0.30865	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T	0.71579	-0.57;-0.58;-0.58;-0.57;-0.57	5.32	4.38	0.52667	.	0.049333	0.85682	D	0.000000	T	0.49795	0.1578	N	0.13043	0.29	0.80722	D	1	B;B;B;B;B	0.23249	0.049;0.026;0.01;0.049;0.082	B;B;B;B;B	0.25291	0.027;0.041;0.025;0.027;0.059	T	0.44847	-0.9301	10	0.02654	T	1	-8.1345	14.5333	0.67942	0.0:0.0:0.8542:0.1458	.	622;619;622;639;602	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	D	622;639;619;602;622	ENSP00000392337:G622D;ENSP00000320130:G639D;ENSP00000398118:G619D;ENSP00000352348:G602D;ENSP00000412444:G622D	ENSP00000320130:G639D	G	+	2	0	DYNC1I1	95564819	1.000000	0.71417	0.923000	0.36655	0.184000	0.23303	4.537000	0.60643	2.941000	0.99782	0.655000	0.94253	GGC	-	NULL		0.517	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	protein_coding	OTTHUMT00000333432.1	G	NM_004411	-		95726883	1	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	SNP	0.990	A	A	95726883	G	A	95726883	3	1	130	1	0	0	0	0	1	0	0	0	4844	1203	42	2	1978	2	DYNC1I1	7	95726883	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		95726883	63411780	20	9947											
ALKBH4	54784	genome.wustl.edu	37	chr7	102097908	102097908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagctcttgctgcctcCctccagggccaaactcagcc	9	19	2	0			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr7:102097908C>T	ENST00000292566.3	-	3	881	c.842G>A	c.(841-843)gGg>gAg	p.G281E		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	281					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|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)			kidney(1)|lung(5)|skin(2)	8						TTGCTGCCTCCCTCCAGGGCC	0.647																																																	0								ENSG00000160993						56	45	49					7																	102097908		2203	4300	6503	ALKBH4	SO:0001583	missense	0			-	HGNC	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.842G>A	7.37:g.102097908C>T	ENSP00000292566:p.Gly281Glu	Somatic	0	78	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	32	48.39	Q53H92|Q9H6A4	Missense_Mutation	SNP							pfam_Oxoglu/Fe-dep_dioxygenase	p.G281E	ENST00000292566.3	37	c.842	CCDS5723.1	7	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037934	0.54896	.	.	ENSG00000160993	ENST00000292566	T	0.57107	0.42	5.08	4.2	0.49525	.	0.051417	0.85682	N	0.000000	T	0.68924	0.3054	M	0.77820	2.39	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	T	0.72243	-0.4350	10	0.59425	D	0.04	-10.1747	12.2608	0.54649	0.0:0.9183:0.0:0.0817	.	281	Q9NXW9	ALKB4_HUMAN	E	281	ENSP00000292566:G281E	ENSP00000292566:G281E	G	-	2	0	ALKBH4	101884913	1.000000	0.71417	0.057000	0.19452	0.088000	0.18126	7.235000	0.78143	1.137000	0.42214	0.561000	0.74099	GGG	-	NULL		0.647	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH4	protein_coding	OTTHUMT00000349503.1	C	NM_017621	-		102097908	-1	no_errors	ENST00000292566	ensembl	human	known	74_37	missense	SNP	0.990	T	T	102097908	C	T	102097908	3	4	130	1	0	0	0	0	1	0	0	0	529	623	22	2	70	2	ALKBH4	7	102097908	Missense_Mutation	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	6371025	102097908	57040755	21	9948											
CHPF2	54480	genome.wustl.edu	37	chr7	150935155	150935155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctcgctgtgcgagcagaGgccccttcccaggtgcgact	14	14	0	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr7:150935155G>T	ENST00000035307.2	+	4	3220	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	CHPF2_ENST00000495645.1_Missense_Mutation_p.E561D|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCGAGCAGAGGCCCCTTCCC	0.627																																																	0								ENSG00000033100						35	38	37					7																	150935155		2203	4300	6503	CHPF2	SO:0001583	missense	0			-	HGNC	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1707G>T	7.37:g.150935155G>T	ENSP00000035307:p.Glu569Asp	Somatic	0	42	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP							pfam_Chond_GalNAc,pfam_Fringe-like	p.E569D	ENST00000035307.2	37	c.1707	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239838	0.22711	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16324	2.35;2.35	4.71	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.28740	0.885	0.53688	D	0.999973	B;B	0.23058	0.046;0.079	B;B	0.29524	0.103;0.035	T	0.10474	-1.0628	10	0.17369	T	0.5	-25.1034	10.28	0.43534	0.165:0.0:0.835:0.0	.	569;561	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	D	561;569;569	ENSP00000418914:E561D;ENSP00000035307:E569D	ENSP00000035307:E569D	E	+	3	2	CHPF2	150566088	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.164000	0.42387	1.210000	0.43336	-0.225000	0.12378	GAG	-	pfam_Chond_GalNAc		0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	protein_coding	OTTHUMT00000348648.2	G	NM_019015	-		150935155	1	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150935155	G	T	150935155	3	4	130	1	0	0	0	0	1	0	0	0	3371	991	35	3	1721	3	CHPF2	7	150935155	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	48837247	150935155	8203508	22	9949											
EYA1	2138	genome.wustl.edu	37	chr8	72246376	72246376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccgtcggctgtcgttgaaGctgtttcactgctgctcatt	10	12	2	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr8:72246376G>T	ENST00000340726.3	-	4	797	c.158C>A	c.(157-159)gCt>gAt	p.A53D	EYA1_ENST00000419131.1_Missense_Mutation_p.A53D|EYA1_ENST00000388742.4_Missense_Mutation_p.A53D|EYA1_ENST00000388743.2_Missense_Mutation_p.A53D|EYA1_ENST00000388741.2_Missense_Mutation_p.A20D|EYA1_ENST00000303824.7_Missense_Mutation_p.A53D|EYA1_ENST00000388740.3_Missense_Mutation_p.A20D	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	53					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTCGTTGAAGCTGTTTCACT	0.328																																																	0								ENSG00000104313						129	124	126					8																	72246376		2203	4300	6503	EYA1	SO:0001583	missense	0			-	HGNC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.158C>A	8.37:g.72246376G>T	ENSP00000342626:p.Ala53Asp	Somatic	0	71	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.A53D	ENST00000340726.3	37	c.158	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934557	0.34189	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.65	4.71	0.59529	.	0.209202	0.49305	D	0.000151	T	0.54013	0.1832	L	0.34521	1.04	0.45464	D	0.998435	P;B;P;B	0.35192	0.489;0.07;0.489;0.07	B;B;B;B	0.39660	0.306;0.171;0.2;0.097	T	0.49390	-0.8945	10	0.25106	T	0.35	-2.3854	6.6471	0.22941	0.1589:0.0:0.8411:0.0	.	53;20;53;53	A6NCB9;Q99502-2;Q99502;G5E9R4	.;.;EYA1_HUMAN;.	D	53;53;21;20;53;20;53;53	ENSP00000373394:A53D;ENSP00000342626:A53D;ENSP00000373392:A20D;ENSP00000303221:A53D;ENSP00000373393:A20D;ENSP00000373395:A53D;ENSP00000410176:A53D	ENSP00000303221:A53D	A	-	2	0	EYA1	72408930	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.250000	0.65432	1.359000	0.45940	0.563000	0.77884	GCT	-	NULL		0.328	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	protein_coding	OTTHUMT00000313788.2	G	NM_000503, NM_172060	-		72246376	-1	no_errors	ENST00000340726	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72246376	G	T	72246376	3	4	130	1	0	0	0	0	1	0	0	0	5330	971	34	3	1680	3	EYA1	8	72246376	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		72246376	74117646	23	9950											
IKBKAP	8518	genome.wustl.edu	37	chr9	111685148	111685148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgaaaagctgcttgtcTgccttctgatccatggaact	8	11	3	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr9:111685148T>C	ENST00000374647.5	-	6	833	c.526A>G	c.(526-528)Aga>Gga	p.R176G	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	176					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCTGCTTGTCTGCCTTCTGAT	0.428																																																	0								ENSG00000070061						214	188	197					9																	111685148		2203	4300	6503	IKBKAP	SO:0001583	missense	0			-	HGNC	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.526A>G	9.37:g.111685148T>C	ENSP00000363779:p.Arg176Gly	Somatic	0	58	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP							pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.R176G	ENST00000374647.5	37	c.526	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565710	0.65651	.	.	ENSG00000070061	ENST00000374647	T	0.31247	1.5	5.62	4.48	0.54585	.	0.041576	0.85682	D	0.000000	T	0.37156	0.0993	M	0.73962	2.25	0.80722	D	1	P	0.48998	0.918	B	0.43701	0.428	T	0.32025	-0.9922	10	0.72032	D	0.01	-18.6106	11.0021	0.47611	0.0:0.0:0.1671:0.8329	.	176	O95163	ELP1_HUMAN	G	176	ENSP00000363779:R176G	ENSP00000363779:R176G	R	-	1	2	IKBKAP	110724969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.742000	0.68646	0.955000	0.37878	0.528000	0.53228	AGA	-	pfam_IKI3,pirsf_IKI3		0.428	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	protein_coding	OTTHUMT00000053574.1	T		-		111685148	-1	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	SNP	1.000	C	C	111685148	T	C	111685148	3	2	130	1	0	0	0	0	1	0	0	0	7612	1588	55	5	3600	5	IKBKAP	9	111685148	Missense_Mutation	SNP	T	TCGA-DX-AB36-01A-11D-A417-09		111685148	29528283	24	9951											
FPGS	2356	genome.wustl.edu	37	chr9	130575476	130575476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgtgccccacagacCaacagaacttcacagtgaca	6	14	2	3			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr9:130575476C>A	ENST00000373247.2	+	15	1407	c.1357C>A	c.(1357-1359)Caa>Aaa	p.Q453K	FPGS_ENST00000373225.3_Missense_Mutation_p.Q403K|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000393706.2_Missense_Mutation_p.Q427K	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	453					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CCCCACAGACCAACAGAACTT	0.622																																																	0								ENSG00000136877						64	54	57					9																	130575476		2203	4300	6503	FPGS	SO:0001583	missense	0			-	HGNC		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1357C>A	9.37:g.130575476C>A	ENSP00000362344:p.Gln453Lys	Somatic	0	33	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP							superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.Q453K	ENST00000373247.2	37	c.1357	CCDS35148.1	9	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795188	0.70452	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.13901	2.95;2.95;2.55	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.77103	2.36	0.80722	D	1	P;P	0.51057	0.594;0.941	P;P	0.51135	0.561;0.66	T	0.10132	-1.0643	10	0.15499	T	0.54	-28.6389	17.3369	0.87283	0.0:1.0:0.0:0.0	.	427;453	Q05932-4;Q05932	.;FOLC_HUMAN	K	453;427;403	ENSP00000362344:Q453K;ENSP00000377309:Q427K;ENSP00000362322:Q403K	ENSP00000362322:Q403K	Q	+	1	0	FPGS	129615297	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	7.291000	0.78721	2.330000	0.79161	0.555000	0.69702	CAA	-	tigrfam_Folylpolyglutamate_synth		0.622	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	protein_coding	OTTHUMT00000054251.1	C		-		130575476	1	no_errors	ENST00000373247	ensembl	human	known	74_37	missense	SNP	1.000	A	A	130575476	C	A	130575476	3	1	130	1	0	0	0	0	1	0	0	0	6038	595	21	3	1415	3	FPGS	9	130575476	Missense_Mutation	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	18890328	130575476	10637955	25	9952											
CACNA1B	774	genome.wustl.edu	37	chr9	140946634	140946634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatcaaacggctgcccaaGctcaaggttagagcctggag	11	12	2	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr9:140946634G>T	ENST00000371372.1	+	25	3946	c.3801G>T	c.(3799-3801)aaG>aaT	p.K1267N	CACNA1B_ENST00000371357.1_Missense_Mutation_p.K1268N|CACNA1B_ENST00000277549.5_Missense_Mutation_p.K463N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K1267N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K1268N|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K1267N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1267					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)	GGCTGCCCAAGCTCAAGGTTA	0.532																																																	0								ENSG00000148408						30	35	33					9																	140946634		2034	4176	6210	CACNA1B	SO:0001583	missense	0			-	HGNC	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.3801G>T	9.37:g.140946634G>T	ENSP00000360423:p.Lys1267Asn	Somatic	0	40	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B1AQK5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.K1268N	ENST00000371372.1	37	c.3804	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890140	0.72524	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.64	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.97110	0.858;1.0;1.0	D	0.97955	1.0334	10	0.54805	T	0.06	.	8.9571	0.35825	0.287:0.0:0.713:0.0	.	1267;1268;1267	B1AQK4;B1AQK7;B1AQK6	.;.;.	N	1267;1267;463;1267;1268;1268	ENSP00000360423:K1267N;ENSP00000277551:K1267N;ENSP00000277549:K463N;ENSP00000360414:K1267N;ENSP00000360408:K1268N;ENSP00000360406:K1268N	ENSP00000277549:K463N	K	+	3	2	CACNA1B	140066455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.015000	0.29963	1.035000	0.39972	0.561000	0.74099	AAG	-	pfam_Ion_trans_dom		0.532	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718	-		140946634	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140946634	G	T	140946634	3	4	130	1	0	0	0	0	1	0	0	0	2541	962	34	3	3899	3	CACNA1B	9	140946634	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	10371158	140946634	266797	26	9953											
MRVI1	10335	genome.wustl.edu	37	chr11	10615134	10615134	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaacgctgaccctccGgcgaggcatattctgcagga	11	14	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr11:10615134G>T	ENST00000436272.1	-	16	2077	c.1999C>A	c.(1999-2001)Cgg>Agg	p.R667R	MRVI1_ENST00000534266.2_Silent_p.R379R|MRVI1_ENST00000547195.1_Silent_p.R603R|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000552103.1_Silent_p.R603R|MRVI1_ENST00000531107.1_Silent_p.R686R|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000424001.1_Silent_p.R379R|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Silent_p.R488R|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000545852.1_Silent_p.R379R|MRVI1_ENST00000527509.2_Silent_p.R603R|MRVI1_ENST00000423302.2_Silent_p.R694R|MRVI1_ENST00000421747.1_Silent_p.R685R|MRVI1_ENST00000558540.1_Silent_p.R379R			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	667					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTGACCCTCCGGCGAGGCATA	0.517																																																	0								ENSG00000072952						85	83	84					11																	10615134		2201	4294	6495	MRVI1	SO:0001819	synonymous_variant	0			-	HGNC	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1999C>A	11.37:g.10615134G>T		Somatic	0	30	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP							pfam_MRVI1	p.P420Q	ENST00000436272.1	37	c.1259		11																																																																																			-	pfam_MRVI1		0.517	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	protein_coding		G	NM_001098579	-		10615134	-1	no_errors	ENST00000526414	ensembl	human	known	74_37	missense	SNP	0.999	T	T	10615134	G	T	10615134	2	4	130	1	0	0	0	0	0	0	0	1	9855	1115	39	3		3	MRVI1	11	10615134	Silent	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		10615134	124391382	27	9954											
OR4C46	119749	genome.wustl.edu	37	chr11	51516009	51516009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtgtctcccacatcaCggttgtcatcttattctttg	6	13	5	0	rs137991158		TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr11:51516009C>T	ENST00000328188.1	+	1	728	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCCACATCACGGTTGTCATC	0.468													.|||	1	0.000199681	0	0	5008	,	,		19962	0.001		0	False		,,,				2504	0																0								ENSG00000185926	C	MET/THR	1,4401		0,1,2200	135	114	121		728	1.4	0.3	11	dbSNP_134	121	0,8592		0,0,4296	no	missense	OR4C46	NM_001004703.1	81	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	243/310	51516009	1,12993	2201	4296	6497	OR4C46	SO:0001583	missense	0			-	HGNC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.728C>T	11.37:g.51516009C>T	ENSP00000329056:p.Thr243Met	Somatic	0	93	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T243M	ENST00000328188.1	37	c.728	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	7.494	0.651307	0.14516	2.27E-4	0.0	ENSG00000185926	ENST00000328188	T	0.38401	1.14	2.33	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.40767	0.1130	L	0.60904	1.88	0.09310	N	1	D	0.59357	0.985	P	0.53146	0.719	T	0.19712	-1.0297	10	0.52906	T	0.07	.	6.9475	0.24526	0.0:0.8456:0.0:0.1544	.	243	A6NHA9	O4C46_HUMAN	M	243	ENSP00000329056:T243M	ENSP00000329056:T243M	T	+	2	0	OR4C46	51372585	0.000000	0.05858	0.345000	0.25642	0.051000	0.14879	-0.509000	0.06336	0.340000	0.23745	0.121000	0.15741	ACG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	protein_coding	OTTHUMT00000391155.1	C	NM_001004703	rs137991158		51516009	1	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	SNP	0.103	T	T	51516009	C	T	51516009	3	4	130	1	0	0	0	0	1	0	0	0	11053	536	19	1	730	1	OR4C46	11	51516009	Missense_Mutation	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	40900875	51516009	83490507	28	9955											
CATSPER1	117144	genome.wustl.edu	37	chr11	65793082	65793082	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtcagatatcccacgctGgtaggaccccacagaggaat	10	11	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr11:65793082G>A	ENST00000312106.5	-	1	906	c.769C>T	c.(769-771)Cag>Tag	p.Q257*		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	257	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCCCACGCTGGTAGGACCCC	0.567																																																	0								ENSG00000175294						120	104	109					11																	65793082		2201	4296	6497	CATSPER1	SO:0001587	stop_gained	0			-	HGNC	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.769C>T	11.37:g.65793082G>A	ENSP00000309052:p.Gln257*	Somatic	0	18	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	Q96P76	Nonsense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.Q257*	ENST00000312106.5	37	c.769	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385200	0.61956	.	.	ENSG00000175294	ENST00000312106	.	.	.	3.87	0.698	0.18087	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	4.4697	0.11706	0.1612:0.0:0.5291:0.3097	.	.	.	.	X	257	.	ENSP00000309052:Q257X	Q	-	1	0	CATSPER1	65549658	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.200000	0.09478	0.039000	0.15632	0.404000	0.27445	CAG	-	NULL		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	G	NM_053054	-		65793082	-1	no_errors	ENST00000312106	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	65793082	G	A	65793082	4	1	130	1	0	0	0	0	0	1	0	0	2689	1357	47	2	1621	2	CATSPER1	11	65793082	Nonsense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	14277073	65793082	69213434	29	9956											
ODZ4	26011	genome.wustl.edu	37	chr11	78369776	78369776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggcagctggtgattGtggagccatagagctggtca	15	9	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr11:78369776G>T	ENST00000278550.7	-	34	8099	c.7637C>A	c.(7636-7638)aCa>aAa	p.T2546K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2546					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCTGGTGATTGTGGAGCCATA	0.542																																																	0								ENSG00000149256						64	66	65					11																	78369776		2000	4161	6161	TENM4	SO:0001583	missense	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7637C>A	11.37:g.78369776G>T	ENSP00000278550:p.Thr2546Lys	Somatic	0	35	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T2546K	ENST00000278550.7	37	c.7637	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	0.341	-0.950397	0.02285	.	.	ENSG00000149256	ENST00000278550	D	0.88664	-2.41	5.35	3.3	0.37823	.	0.322809	0.31233	N	0.008007	T	0.66277	0.2773	N	0.00841	-1.15	0.30649	N	0.755608	B	0.02656	0.0	B	0.01281	0.0	T	0.61342	-0.7082	9	.	.	.	.	10.5483	0.45072	0.0:0.3018:0.5734:0.1248	.	2546	Q6N022	TEN4_HUMAN	K	2546	ENSP00000278550:T2546K	.	T	-	2	0	ODZ4	78047424	0.990000	0.36364	0.860000	0.33809	0.976000	0.68499	2.421000	0.44688	1.448000	0.47680	0.655000	0.94253	ACA	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	G		-		78369776	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	SNP	0.656	T	T	78369776	G	T	78369776	3	4	130	1	0	0	0	0	1	0	0	0	10839	1377	48	3	676	3	ODZ4	11	78369776	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	12576694	78369776	56636740	30	9957											
NPAT	4863	genome.wustl.edu	37	chr11	108032182	108032182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgtttgaagatgtgccttGttttttggtcatttcttgca	9	5	2	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr11:108032182G>T	ENST00000278612.8	-	17	3736	c.3631C>A	c.(3631-3633)Caa>Aaa	p.Q1211K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1211					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GATGTGCCTTGTTTTTTGGTC	0.363																																																	0								ENSG00000149308						272	270	271					11																	108032182		1841	4103	5944	NPAT	SO:0001583	missense	0			-	HGNC	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3631C>A	11.37:g.108032182G>T	ENSP00000278612:p.Gln1211Lys	Somatic	0	88	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP							smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.Q1211K	ENST00000278612.8	37	c.3631	CCDS41710.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.20|15.20	2.763093|2.763093	0.49574|0.49574	.|.	.|.	ENSG00000149308|ENSG00000149308	ENST00000527296|ENST00000278612	.|T	.|0.04275	.|3.66	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.157209	.|0.42294	.|D	.|0.000721	T|T	0.11750|0.11750	0.0286|0.0286	M|M	0.65975|0.65975	2.015|2.015	0.45580|0.45580	D|D	0.99852|0.99852	.|P	.|0.41848	.|0.763	.|P	.|0.44811	.|0.461	T|T	0.05273|0.05273	-1.0895|-1.0895	5|10	.|0.27082	.|T	.|0.32	-6.3346|-6.3346	19.6787|19.6787	0.95950|0.95950	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1211	.|Q14207	.|NPAT_HUMAN	K|K	209|1211	.|ENSP00000278612:Q1211K	.|ENSP00000278612:Q1211K	N|Q	-|-	3|1	2|0	NPAT|NPAT	107537392|107537392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.089000|0.089000	0.18198|0.18198	4.232000|4.232000	0.58645|0.58645	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	AAC|CAA	-	NULL		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	protein_coding	OTTHUMT00000389506.2	G	NM_002519	-		108032182	-1	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108032182	G	T	108032182	3	4	130	1	0	0	0	0	1	0	0	0	10568	1386	48	3	660	3	NPAT	11	108032182	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	29662406	108032182	26974334	31	9958											
FLI1	2313	genome.wustl.edu	37	chr11	128642720	128642720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtgaggcaatggctggaGtgggccataaaggagtacag	16	6	0	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr11:128642720G>T	ENST00000527786.2	+	4	918	c.429G>T	c.(427-429)gaG>gaT	p.E143D	FLI1_ENST00000344954.6_Missense_Mutation_p.E110D|FLI1_ENST00000281428.8_Missense_Mutation_p.E77D|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.2_Missense_Mutation_p.E110D	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	143	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGGCTGGAGTGGGCCATAA	0.512			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0								ENSG00000151702						190	194	193					11																	128642720		2113	4241	6354	FLI1	SO:0001583	missense	0			-	HGNC	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.429G>T	11.37:g.128642720G>T	ENSP00000433488:p.Glu143Asp	Somatic	0	34	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP							pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.E143D	ENST00000527786.2	37	c.429	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668791	0.29604	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.55	2.67	0.31697	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.154798	0.56097	D	0.000024	T	0.14527	0.0351	N	0.10733	0.035	0.41332	D	0.987249	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.07121	-1.0789	10	0.25751	T	0.34	.	10.2399	0.43305	0.227:0.0:0.773:0.0	.	143;77	Q01543;Q01543-2	FLI1_HUMAN;.	D	110;143;110;77	ENSP00000339627:E110D;ENSP00000399985:E143D;ENSP00000432950:E110D;ENSP00000281428:E77D	ENSP00000281428:E77D	E	+	3	2	FLI1	128147930	0.993000	0.37304	1.000000	0.80357	0.974000	0.67602	0.235000	0.17948	0.883000	0.36040	-0.343000	0.07986	GAG	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.512	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	protein_coding	OTTHUMT00000386226.2	G	NM_002017	-		128642720	1	no_errors	ENST00000527786	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128642720	G	T	128642720	3	4	130	1	0	0	0	0	1	0	0	0	5926	1020	36	3	443	3	FLI1	11	128642720	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	20610538	128642720	6363796	32	9959											
AVIL	10677	genome.wustl.edu	37	chr12	58207134	58207134	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atatatggctgcgcagctttGctcatcctgggaggagtcct	12	10	1	0			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr12:58207134G>C	ENST00000257861.3	-	3	644	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	AVIL_ENST00000537081.1_Missense_Mutation_p.Q65E|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	72	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGCAGCTTTGCTCATCCTGG	0.577																																																	0								ENSG00000135407						123	111	115					12																	58207134		2203	4300	6503	AVIL	SO:0001583	missense	0			-	HGNC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.214C>G	12.37:g.58207134G>C	ENSP00000257861:p.Gln72Glu	Somatic	0	17	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	128	330	27.95	B2RAU7|Q2NKM9	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.Q72E	ENST00000257861.3	37	c.214	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584145	0.65992	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	T;T;T	0.54279	0.58;0.58;0.58	4.92	4.02	0.46733	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.93594	3.435	0.58432	D	0.999995	D;P;D	0.65815	0.968;0.943;0.995	P;P;D	0.70487	0.882;0.742;0.969	D	0.84215	0.0458	10	0.66056	D	0.02	-12.1337	14.1085	0.65107	0.0:0.0:0.8485:0.1515	.	65;72;72	O75366-2;F8VVU1;O75366	.;.;AVIL_HUMAN	E	65;72;72	ENSP00000443207:Q65E;ENSP00000257861:Q72E;ENSP00000449239:Q72E	ENSP00000257861:Q72E	Q	-	1	0	AVIL	56493401	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.625000	0.83145	1.419000	0.47118	0.650000	0.86243	CAA	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	protein_coding	OTTHUMT00000409276.1	G	NM_006576	-		58207134	-1	no_errors	ENST00000257861	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58207134	G	C	58207134	3	2	130	1	0	0	0	0	1	0	0	0	1227	1328	46	4	2313	4	AVIL	12	58207134	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		58207134	75644761	33	9960			1	77		2	2	47	G		7.280861e-05
AVIL	10677	genome.wustl.edu	37	chr12	58207180	58207180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagaagtggatgtcctgGgataggagactggccactct	13	9	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr12:58207180G>A	ENST00000257861.3	-	3	598	c.168C>T	c.(166-168)tcC>tcT	p.S56S	AVIL_ENST00000537081.1_Silent_p.S49S|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	56	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATGTCCTGGGATAGGAGAC	0.597																																																	0								ENSG00000135407						74	68	70					12																	58207180		2203	4300	6503	AVIL	SO:0001819	synonymous_variant	0			-	HGNC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.168C>T	12.37:g.58207180G>A		Somatic	0	11	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	269	27.88	B2RAU7|Q2NKM9	Silent	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S56	ENST00000257861.3	37	c.168	CCDS8959.1	12																																																																																			-	pfam_Gelsolin_dom,smart_Villin/Gelsolin		0.597	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	protein_coding	OTTHUMT00000409276.1	G	NM_006576	-		58207180	-1	no_errors	ENST00000257861	ensembl	human	known	74_37	silent	SNP	1.000	A	A	58207180	G	A	58207180	2	1	130	1	0	0	0	0	0	0	0	1	1227	1219	43	2		2	AVIL	12	58207180	Silent	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	46	58207180	75644715	34	9961			1	77		2	2	47	G		7.280861e-05
TBC1D15	64786	genome.wustl.edu	37	chr12	72291723	72291723	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattatagaagtcttatcggTaattttttcttaacaacttt	5	5	2	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr12:72291723T>A	ENST00000550746.1	+	11	1298		c.e11+2		TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTTATCGGTAATTTTTTCT	0.353																																																	0								ENSG00000121749						56	59	58					12																	72291723		2203	4295	6498	TBC1D15	SO:0001630	splice_region_variant	0			-	HGNC	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1234+2T>A	12.37:g.72291723T>A		Somatic	0	66	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	31	64.37	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP							-	e11+2	ENST00000550746.1	37	c.1234+2	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951515	0.73787	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3365	0.43852	0.0:0.0733:0.0:0.9267	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70577990	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.027000	0.70881	2.173000	0.68751	0.460000	0.39030	.	-	-		0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	protein_coding	OTTHUMT00000351266.2	T	NM_022771	-	Intron	72291723	1	no_errors	ENST00000550746	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	72291723	T	A	72291723	5	1	130	1	0	0	0	0	0	0	1	0	15611	1652	57	5	1402	5	TBC1D15	12	72291723	Splice_Site	SNP	T	TCGA-DX-AB36-01A-11D-A417-09	14084543	72291723	61560172	35	9962											
TMTC3	160418	genome.wustl.edu	37	chr12	88547274	88547274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgcagtgcacccaatAcatacagaagcagtaagtaa	7	9	0	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr12:88547274A>G	ENST00000266712.6	+	3	616	c.396A>G	c.(394-396)atA>atG	p.I132M		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	132					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGCACCCAATACATACAGAAG	0.313																																																	0								ENSG00000139324						83	72	76					12																	88547274		2203	4299	6502	TMTC3	SO:0001583	missense	0			-	HGNC		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.396A>G	12.37:g.88547274A>G	ENSP00000266712:p.Ile132Met	Somatic	0	44	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	25	41.86	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP							pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I132M	ENST00000266712.6	37	c.396	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545094	0.65198	.	.	ENSG00000139324	ENST00000549011;ENST00000266712	D;T	0.94092	-3.35;-0.26	5.89	2.22	0.28083	.	0.176280	0.64402	D	0.000014	D	0.93096	0.7802	M	0.77616	2.38	0.49687	D	0.999813	P	0.43788	0.817	P	0.49421	0.61	D	0.89522	0.3779	10	0.59425	D	0.04	-4.7892	4.5504	0.12108	0.6851:0.1305:0.0664:0.118	.	132	Q6ZXV5-2	.	M	132	ENSP00000447640:I132M;ENSP00000266712:I132M	ENSP00000266712:I132M	I	+	3	3	TMTC3	87071405	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	2.542000	0.45744	0.133000	0.18654	0.477000	0.44152	ATA	-	NULL		0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	protein_coding	OTTHUMT00000406421.1	A	NM_181783	-		88547274	1	no_errors	ENST00000266712	ensembl	human	known	74_37	missense	SNP	1.000	G	G	88547274	A	G	88547274	3	3	130	1	0	0	0	0	1	0	0	0	16269	381	14	5	402	5	TMTC3	12	88547274	Missense_Mutation	SNP	A	TCGA-DX-AB36-01A-11D-A417-09	16255551	88547274	45304621	36	9963											
CCDC60	160777	genome.wustl.edu	37	chr12	119968815	119968815	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctcctgaaggtgctgCaggatctgaggatttgggaa	14	7	1	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr12:119968815C>T	ENST00000327554.2	+	13	1963	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	500										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)		GAAGGTGCTGCAGGATCTGAG	0.522																																																	0								ENSG00000183273						141	116	124					12																	119968815		2203	4300	6503	CCDC60	SO:0001587	stop_gained	0			-	HGNC	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.1498C>T	12.37:g.119968815C>T	ENSP00000333374:p.Gln500*	Somatic	0	66	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Nonsense_Mutation	SNP							NULL	p.Q500*	ENST00000327554.2	37	c.1498	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.280563	0.99123	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.55	4.61	0.57282	.	0.252125	0.27214	N	0.020390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.9813	11.9867	0.53151	0.0:0.7329:0.2671:0.0	.	.	.	.	X	500	.	.	Q	+	1	0	CCDC60	118453198	0.939000	0.31865	0.993000	0.49108	0.996000	0.88848	1.603000	0.36794	2.601000	0.87937	0.655000	0.94253	CAG	-	NULL		0.522	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	C	NM_178499	-		119968815	1	no_errors	ENST00000327554	ensembl	human	known	74_37	nonsense	SNP	0.980	T	T	119968815	C	T	119968815	4	4	130	1	0	0	0	0	0	1	0	0	2833	711	25	2	1548	2	CCDC60	12	119968815	Nonsense_Mutation	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	31421541	119968815	13883080	37	9964											
NSMCE1	197370	genome.wustl.edu	37	chr16	27245549	27245549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcattctctgcaaaatccGtagccattttggaaattgaa	7	8	2	1	rs11553886		TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr16:27245549G>A	ENST00000361439.4	-	4	395	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	99	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TGCAAAATCCGTAGCCATTTT	0.443													G|||	1	0.000199681	0	0	5008	,	,		22522	0.001		0	False		,,,				2504	0																0								ENSG00000169189						144	140	141					16																	27245549		1950	4145	6095	NSMCE1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.296C>T	16.37:g.27245549G>A	ENSP00000355077:p.Thr99Met	Somatic	0	71	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP							pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.T99M	ENST00000361439.4	37	c.296	CCDS10628.2	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.186384	0.78789	.	.	ENSG00000169189	ENST00000361439	T	0.53206	0.63	5.76	5.76	0.90799	.	0.124536	0.56097	D	0.000028	T	0.55401	0.1918	L	0.39898	1.24	0.41380	D	0.987546	D	0.76494	0.999	P	0.55011	0.766	T	0.57860	-0.7738	10	0.87932	D	0	.	17.4698	0.87642	0.0:0.0:1.0:0.0	rs11553886;rs52829655	99	Q8WV22	NSE1_HUMAN	M	99	ENSP00000355077:T99M	ENSP00000355077:T99M	T	-	2	0	NSMCE1	27153050	0.967000	0.33354	0.800000	0.32199	0.946000	0.59487	5.146000	0.64845	2.713000	0.92767	0.655000	0.94253	ACG	-	pfam_Nse1		0.443	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	protein_coding	OTTHUMT00000254577.3	G	NM_145080	rs11553886		27245549	-1	no_errors	ENST00000361439	ensembl	human	known	74_37	missense	SNP	0.941	A	A	27245549	G	A	27245549	3	1	130	1	0	0	0	0	1	0	0	0	10677	1145	40	1	524	1	NSMCE1	16	27245549	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		27245549	63109204	38	9965											
FAM83G	644815	genome.wustl.edu	37	chr17	18891589	18891589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgcatgcaggcccGctcacacatgtgcaggaagt	12	14	1	0			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr17:18891589G>A	ENST00000388995.6	-	3	884	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R221W|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R221W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	221					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGCAGGCCCGCTCACACATG	0.567																																																	0								ENSG00000188522						98	102	101					17																	18891589		2096	4225	6321	FAM83G	SO:0001583	missense	0			-	HGNC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.661C>T	17.37:g.18891589G>A	ENSP00000373647:p.Arg221Trp	Somatic	0	44	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP							pfam_DUF1669	p.R221W	ENST00000388995.6	37	c.661	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829902	0.32329	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.12984	2.63;2.63	5.29	4.26	0.50523	.	0.056249	0.64402	D	0.000003	T	0.25975	0.0633	M	0.65498	2.005	0.46725	D	0.999172	D	0.54772	0.968	P	0.52793	0.709	T	0.01326	-1.1384	10	0.87932	D	0	-38.2082	12.6507	0.56759	0.0:0.0:0.7102:0.2898	.	221	A6ND36	FA83G_HUMAN	W	221	ENSP00000373647:R221W;ENSP00000343279:R221W	ENSP00000343279:R221W	R	-	1	2	FAM83G	18832314	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.926000	0.63433	2.497000	0.84241	0.591000	0.81541	CGG	-	pfam_DUF1669		0.567	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	protein_coding	OTTHUMT00000253108.4	G		-		18891589	-1	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18891589	G	A	18891589	3	1	130	1	0	0	0	0	1	0	0	0	5641	1086	38	1	1826	1	FAM83G	17	18891589	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		18891589	62303621	39	9966											
KRT17	3872	genome.wustl.edu	37	chr17	39777227	39777227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttcctaccatgctgagCtgggactgcagctctatctc	9	13	2	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr17:39777227C>T	ENST00000311208.8	-	5	1018	c.951G>A	c.(949-951)caG>caA	p.Q317Q	JUP_ENST00000540235.1_Silent_p.Q476Q	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	317	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCATGCTGAGCTGGGACTGCA	0.612																																					Pancreas(92;1242 2086 39193 50508)												0								ENSG00000173801						69	60	63					17																	39777227		2203	4300	6503	JUP	SO:0001819	synonymous_variant	0			-	HGNC	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.951G>A	17.37:g.39777227C>T		Somatic	0	47	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP							pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.Q476	ENST00000311208.8	37	c.1428	CCDS11402.1	17																																																																																			-	pfam_IF,prints_Keratin_I		0.612	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	protein_coding	OTTHUMT00000257460.1	C	NM_000422	-		39777227	-1	no_errors	ENST00000540235	ensembl	human	known	74_37	silent	SNP	0.999	T	T	39777227	C	T	39777227	2	4	130	1	0	0	0	0	0	0	0	1	8456	796	28	2		2	KRT17	17	39777227	Silent	SNP	C	TCGA-DX-AB36-01A-11D-A417-09	20885638	39777227	41417983	40	9967											
MUC16	94025	genome.wustl.edu	37	chr19	9015716	9015716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttggtgatggtgaagttgaGggtgaacggcaccaggagag	19	4	0	5			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr19:9015716G>C	ENST00000397910.4	-	29	38310	c.38107C>G	c.(38107-38109)Ctc>Gtc	p.L12703V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12705	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GTGAAGTTGAGGGTGAACGGC	0.478																																																	0								ENSG00000181143						201	175	184					19																	9015716		1982	4139	6121	MUC16	SO:0001583	missense	0			-	HGNC	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.38107C>G	19.37:g.9015716G>C	ENSP00000381008:p.Leu12703Val	Somatic	0	90	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12703V	ENST00000397910.4	37	c.38107	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	8.667	0.901888	0.17760	.	.	ENSG00000181143	ENST00000397910	T	0.55413	0.52	3.44	1.12	0.20585	.	.	.	.	.	T	0.65080	0.2657	M	0.81497	2.545	.	.	.	D	0.53885	0.963	D	0.63033	0.91	T	0.66905	-0.5805	8	0.87932	D	0	.	3.5061	0.07691	0.1405:0.0:0.6073:0.2522	.	12703	B5ME49	.	V	12703	ENSP00000381008:L12703V	ENSP00000381008:L12703V	L	-	1	0	MUC16	8876716	0.019000	0.18553	0.978000	0.43139	0.302000	0.27658	-1.437000	0.02419	0.494000	0.27859	0.305000	0.20034	CTC	-	pfam_SEA_dom		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9015716	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	1.000	C	C	9015716	G	C	9015716	3	2	130	1	0	0	0	0	1	0	0	0	9975	1000	35	4	5640	4	MUC16	19	9015716	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		9015716	50113267	41	9968											
ZNF616	90317	genome.wustl.edu	37	chr19	52619626	52619626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatgtagggtttctgtccaGtgtgactcctttggtgtctt	11	7	2	1	rs202056241		TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr19:52619626G>T	ENST00000600228.1	-	4	1052	c.791C>A	c.(790-792)aCt>aAt	p.T264N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	264					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(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)		TTTCTGTCCAGTGTGACTCCT	0.383													G|||	1	0.000199681	0	0	5008	,	,		22272	0.001		0	False		,,,				2504	0																0								ENSG00000204611						85	83	84					19																	52619626		2203	4299	6502	ZNF616	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.791C>A	19.37:g.52619626G>T	ENSP00000471000:p.Thr264Asn	Somatic	0	52	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T264N	ENST00000600228.1	37	c.791	CCDS33090.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.69	2.609774	0.46527	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.954	-0.139	0.13460	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	L	0.58583	1.82	0.21416	N	0.999694	P	0.46020	0.871	P	0.57244	0.816	T	0.40117	-0.9580	8	0.62326	D	0.03	.	0.387	0.00404	0.2021:0.2422:0.3121:0.2435	.	264	Q08AN1	ZN616_HUMAN	N	264	.	ENSP00000328722:T264N	T	-	2	0	ZNF616	57311438	0.007000	0.16637	0.032000	0.17829	0.716000	0.41182	0.335000	0.19806	-0.018000	0.14079	0.305000	0.20034	ACT	-	pfscan_Znf_C2H2		0.383	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	protein_coding	OTTHUMT00000462451.1	G	XM_030892	rs202056241		52619626	-1	no_errors	ENST00000600228	ensembl	human	known	74_37	missense	SNP	0.713	T	T	52619626	G	T	52619626	3	4	130	1	0	0	0	0	1	0	0	0	18048	1029	36	3	1558	3	ZNF616	19	52619626	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	43603910	52619626	6509357	42	9969											
ZNF264	9422	genome.wustl.edu	37	chr19	57724201	57724201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggaagaccttttacaagtgGacaaacctcagttacccttc	8	11	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr19:57724201G>T	ENST00000263095.6	+	4	2150	c.1736G>T	c.(1735-1737)gGa>gTa	p.G579V	ZNF264_ENST00000536056.1_Missense_Mutation_p.G579V	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	579					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(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		TTTACAAGTGGACAAACCTCA	0.448																																																	0								ENSG00000083844						102	100	101					19																	57724201		2203	4300	6503	ZNF264	SO:0001583	missense	0			-	HGNC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1736G>T	19.37:g.57724201G>T	ENSP00000263095:p.Gly579Val	Somatic	0	55	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.11	A8K8Y9|Q9P1V0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G579V	ENST00000263095.6	37	c.1736	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	5.182	0.219146	0.09863	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.05258	3.47;3.47	2.35	-4.01	0.04045	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.47341	-0.9125	9	0.16420	T	0.52	.	5.4571	0.16596	0.0:0.1747:0.2355:0.5898	.	579	O43296	ZN264_HUMAN	V	579	ENSP00000263095:G579V;ENSP00000440376:G579V	ENSP00000263095:G579V	G	+	2	0	ZNF264	62416013	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.556000	0.02168	-0.796000	0.04456	-0.500000	0.04577	GGA	-	NULL		0.448	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	protein_coding	OTTHUMT00000465080.1	G		-		57724201	1	no_errors	ENST00000263095	ensembl	human	known	74_37	missense	SNP	0.000	T	T	57724201	G	T	57724201	3	4	130	1	0	0	0	0	1	0	0	0	17811	1174	41	3	1750	3	ZNF264	19	57724201	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	5104575	57724201	1404782	43	9970											
ZNF446	55663	genome.wustl.edu	37	chr19	58988668	58988668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgagactgcccgcctccGcttccgagggttctgctacc	11	17	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr19:58988668G>T	ENST00000594369.1	+	2	464	c.83G>T	c.(82-84)cGc>cTc	p.R28L	CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Missense_Mutation_p.R28L|ZNF446_ENST00000335841.4_Missense_Mutation_p.R28L	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	28	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		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)		GCCCGCCTCCGCTTCCGAGGG	0.667																																																	0								ENSG00000083838						64	76	72					19																	58988668		2203	4300	6503	ZNF446	SO:0001583	missense	0			-	HGNC		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.83G>T	19.37:g.58988668G>T	ENSP00000472802:p.Arg28Leu	Somatic	0	48	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R28L	ENST00000594369.1	37	c.83	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376560	0.42105	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000539679	T	0.04758	3.56	4.52	2.11	0.27256	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.398584	0.18460	N	0.140560	T	0.12817	0.0311	M	0.66560	2.04	0.33268	D	0.560611	D;D;D	0.65815	0.994;0.995;0.995	D;D;D	0.67900	0.954;0.927;0.927	T	0.17228	-1.0376	10	0.18276	T	0.48	-13.8596	7.2947	0.26387	0.096:0.0:0.737:0.167	.	28;28;28	F5H201;Q96AF5;Q9NWS9	.;.;ZN446_HUMAN	L	28	ENSP00000336565:R28L	ENSP00000336565:R28L	R	+	2	0	ZNF446	63680480	0.000000	0.05858	0.475000	0.27278	0.598000	0.36846	0.507000	0.22675	1.170000	0.42753	0.491000	0.48974	CGC	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.667	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	protein_coding	OTTHUMT00000467052.1	G	NM_017908	-		58988668	1	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	SNP	0.306	T	T	58988668	G	T	58988668	3	4	130	1	0	0	0	0	1	0	0	0	17926	1087	38	3	85	3	ZNF446	19	58988668	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	1264467	58988668	140315	44	9971											
FOXS1	2307	genome.wustl.edu	37	chr20	30432903	30432903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgagcactgcctgccgGtcgtggcgttggggactcct	16	11	0	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr20:30432903G>T	ENST00000375978.3	-	1	517	c.443C>A	c.(442-444)aCc>aAc	p.T148N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	148					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTGCCTGCCGGTCGTGGCGTT	0.692																																																	0								ENSG00000179772																																			FOXS1	SO:0001583	missense	0			-	HGNC	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.443C>A	20.37:g.30432903G>T	ENSP00000365145:p.Thr148Asn	Somatic	0	47	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q96D28	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T148N	ENST00000375978.3	37	c.443	CCDS13192.1	20	.	.	.	.	.	.	.	.	.	.	G	4.772	0.143625	0.09134	.	.	ENSG00000179772	ENST00000375978	D	0.93247	-3.19	4.47	4.47	0.54385	.	0.140624	0.32068	N	0.006628	D	0.85691	0.5755	N	0.19112	0.55	0.09310	N	1	P	0.37864	0.61	B	0.31812	0.136	T	0.75605	-0.3260	10	0.16896	T	0.51	.	15.8518	0.78937	0.0:0.0:1.0:0.0	.	148	O43638	FOXS1_HUMAN	N	148	ENSP00000365145:T148N	ENSP00000365145:T148N	T	-	2	0	FOXS1	29896564	0.608000	0.26966	0.004000	0.12327	0.027000	0.11550	5.014000	0.64029	2.327000	0.79052	0.455000	0.32223	ACC	-	NULL		0.692	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	protein_coding	OTTHUMT00000078560.2	G	NM_004118	-		30432903	-1	no_errors	ENST00000375978	ensembl	human	known	74_37	missense	SNP	0.008	T	T	30432903	G	T	30432903	3	4	130	1	0	0	0	0	1	0	0	0	6037	1261	44	3	553	3	FOXS1	20	30432903	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		30432903	32592617	45	9972											
ACSS2	55902	genome.wustl.edu	37	chr20	33503020	33503020	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcctgggctcttaacaGggtaaactgaaagagaaatc	9	8	2	2			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chr20:33503020G>T	ENST00000360596.2	+	7	1045				ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Intron|ACSS2_ENST00000253382.5_Splice_Site	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCTTAACAGGGTAAACTGA	0.507																																																	0								ENSG00000131069						150	130	136					20																	33503020		1568	3582	5150	ACSS2	SO:0001627	intron_variant	0			-	HGNC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.834+780G>T	20.37:g.33503020G>T		Somatic	0	50	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Splice_Site	SNP							-	e8-1	ENST00000360596.2	37	c.835-1	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347820	0.41599	.	.	ENSG00000131069	ENST00000253382	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5069	0.95121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSS2	32966681	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	5.412000	0.66392	2.941000	0.99782	0.655000	0.94253	.	-	-		0.507	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	protein_coding	OTTHUMT00000078823.3	G	NM_018677	-		33503020	1	no_errors	ENST00000253382	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	33503020	G	T	33503020	1	4	130	0	1	0	0	0	0	0	0	0	189	1014	35	3		3	ACSS2	20	33503020	Intron	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	3070117	33503020	29522500	46	9973											
SHROOM2	357	genome.wustl.edu	37	chrX	9862480	9862480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcagctccttggggagcGttgacagcctggaccacccc	11	15	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chrX:9862480G>A	ENST00000380913.3	+	4	622	c.532G>A	c.(532-534)Gtt>Att	p.V178I		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	178					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)				CTTGGGGAGCGTTGACAGCCT	0.602																																																	0								ENSG00000146950						84	67	73					X																	9862480		2203	4300	6503	SHROOM2	SO:0001583	missense	0			-	HGNC	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.532G>A	X.37:g.9862480G>A	ENSP00000370299:p.Val178Ile	Somatic	0	12	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	2	75.00	B9EIQ7	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V178I	ENST00000380913.3	37	c.532	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	5.937	0.356901	0.11239	.	.	ENSG00000146950	ENST00000380913	T	0.64438	-0.1	4.21	0.732	0.18283	.	0.179093	0.46442	N	0.000291	T	0.31638	0.0803	N	0.13043	0.29	0.80722	D	1	P	0.37525	0.598	B	0.21151	0.033	T	0.04767	-1.0928	10	0.32370	T	0.25	-16.4046	6.4179	0.21728	0.7541:0.0:0.2459:0.0	.	178	Q13796	SHRM2_HUMAN	I	178	ENSP00000370299:V178I	ENSP00000370299:V178I	V	+	1	0	SHROOM2	9822480	1.000000	0.71417	0.005000	0.12908	0.069000	0.16628	2.875000	0.48491	0.142000	0.18901	-0.268000	0.10319	GTT	-	NULL		0.602	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	G	NM_001649	-		9862480	1	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	SNP	0.932	A	A	9862480	G	A	9862480	3	1	130	1	0	0	0	0	1	0	0	0	14302	1145	40	1	546	1	SHROOM2	23	9862480	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09		9862480	145408080	47	9974											
S100G	795	genome.wustl.edu	37	chrX	16669217	16669217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atccagaccagttgtcaaagGatgaactgaagctattgatt	9	7	1	4			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chrX:16669217G>T	ENST00000380200.3	+	2	142	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	30	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					GTTGTCAAAGGATGAACTGAA	0.448																																																	0								ENSG00000169906						134	135	135					X																	16669217		2203	4300	6503	S100G	SO:0001583	missense	0			-	HGNC		CCDS14176.1	Xp22.2	2014-01-28	2001-11-28	2004-10-07	ENSG00000169906	ENSG00000169906		"S100 calcium binding proteins", "EF-hand domain containing"	1436	protein-coding gene	gene with protein product	"calbindin-D9K"	302020	"calbindin 3, (vitamin D-dependent calcium-binding protein)"	CALB3		1610358, 1379540	Standard	NM_004057		Approved	CABP9K, CABP1	uc004cxn.1	P29377	OTTHUMG00000021194	ENST00000380200.3:c.88G>T	X.37:g.16669217G>T	ENSP00000369547:p.Asp30Tyr	Somatic	0	57	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5JS49	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D30Y	ENST00000380200.3	37	c.88	CCDS14176.1	X	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242334	0.39598	.	.	ENSG00000169906	ENST00000380200	T	0.10005	2.92	5.58	5.58	0.84498	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.794679	0.11753	N	0.532843	T	0.18173	0.0436	.	.	.	0.30330	N	0.78673	B	0.32425	0.371	B	0.41466	0.358	T	0.06844	-1.0804	9	0.72032	D	0.01	-18.6936	14.018	0.64536	0.0:0.0:1.0:0.0	.	30	P29377	S100G_HUMAN	Y	30	ENSP00000369547:D30Y	ENSP00000369547:D30Y	D	+	1	0	S100G	16579138	1.000000	0.71417	0.815000	0.32552	0.580000	0.36256	2.951000	0.49089	2.471000	0.83476	0.600000	0.82982	GAT	-	pfam_S100_Ca-bd_sub		0.448	S100G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100G	protein_coding	OTTHUMT00000055910.1	G	NM_004057	-		16669217	1	no_errors	ENST00000380200	ensembl	human	known	74_37	missense	SNP	0.963	T	T	16669217	G	T	16669217	3	4	130	1	0	0	0	0	1	0	0	0	13797	1174	41	3	90	3	S100G	23	16669217	Missense_Mutation	SNP	G	TCGA-DX-AB36-01A-11D-A417-09	6806737	16669217	138601343	48	9975											
CHM	1121	genome.wustl.edu	37	chrX	85282554	85282554	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcaatgatggattcAggcaaacctacaaaaacaca	8	10	1	1			TCGA-DX-AB36-01A-11D-A417-09	TCGA-DX-AB36-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f562dc7-35c9-49e0-8e0c-0832529d5c56	93f73315-178e-4e78-bd48-5523cfe9495e	g.chrX:85282554A>C	ENST00000357749.2	-	2	86	c.57T>G	c.(55-57)ccT>ccG	p.P19P	CHM_ENST00000358786.4_Silent_p.P19P|CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.2_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	19					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGATGGATTCAGGCAAACCTA	0.338																																																	0								ENSG00000188419						69	61	64					X																	85282554		2203	4300	6503	CHM	SO:0001819	synonymous_variant	0			-	HGNC	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.57T>G	X.37:g.85282554A>C		Somatic	0	141	0		0.515929008799604				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	11	85.90	A1L4D2|O43732	Silent	SNP							pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.P19	ENST00000357749.2	37	c.57	CCDS14454.1	X																																																																																			-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_GDP_dissociation_inhibitor		0.338	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	protein_coding	OTTHUMT00000057396.3	A	NM_000390	-		85282554	-1	no_errors	ENST00000357749	ensembl	human	known	74_37	silent	SNP	1.000	C	C	85282554	A	C	85282554	2	2	130	1	0	0	0	0	0	0	0	1	3352	175	7	5		5	CHM	23	85282554	Silent	SNP	A	TCGA-DX-AB36-01A-11D-A417-09	68613337	85282554	69988006	49	9976											
PADI1	29943	genome.wustl.edu	37	chr1	17531793	17531793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagtcgaggcacatgtGgacattcacaggtaagagct	15	7	1	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:17531793G>A	ENST00000375471.4	+	1	173	c.81G>A	c.(79-81)gtG>gtA	p.V27V		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	27					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGCACATGTGGACATTCACA	0.587																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0								ENSG00000142623						143	108	120					1																	17531793		2203	4300	6503	PADI1	SO:0001819	synonymous_variant	0			-	HGNC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.81G>A	1.37:g.17531793G>A		Somatic	0	57	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36	A1L4K6|Q70SX6	Silent	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V27	ENST00000375471.4	37	c.81	CCDS178.1	1																																																																																			-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub		0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	protein_coding	OTTHUMT00000006621.1	G	NM_013358	-		17531793	1	no_errors	ENST00000375471	ensembl	human	known	74_37	silent	SNP	0.917	A	A	17531793	G	A	17531793	2	1	131	1	0	0	0	0	0	0	0	1	11379	1335	47	2		2	PADI1	1	17531793	Silent	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		17531793	231718828	1	9977											
C1orf173	127254	genome.wustl.edu	37	chr1	75037175	75037175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccactccgtgctaattCctctaccaccaccttccctg	3	21	1	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:75037175C>T	ENST00000326665.5	-	14	4437	c.4219G>A	c.(4219-4221)Gaa>Aaa	p.E1407K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1407	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTGCTAATTCCTCTACCACC	0.537																																																	0								ENSG00000178965						96	94	95					1																	75037175		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.4219G>A	1.37:g.75037175C>T	ENSP00000322609:p.Glu1407Lys	Somatic	0	25	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP							NULL	p.E1407K	ENST00000326665.5	37	c.4219	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506412	0.64410	.	.	ENSG00000178965	ENST00000326665	T	0.19532	2.14	5.0	4.08	0.47627	.	.	.	.	.	T	0.07188	0.0182	N	0.19112	0.55	0.51233	D	0.999914	P	0.50156	0.932	P	0.51135	0.66	T	0.11421	-1.0588	9	0.09590	T	0.72	-1.0452	7.669	0.28447	0.0:0.8073:0.0:0.1927	.	1407	Q5RHP9	CA173_HUMAN	K	1407	ENSP00000322609:E1407K	ENSP00000322609:E1407K	E	-	1	0	C1orf173	74809763	0.231000	0.23751	0.479000	0.27329	0.010000	0.07245	0.904000	0.28491	1.101000	0.41535	0.561000	0.74099	GAA	-	NULL		0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	C		-		75037175	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.698	T	T	75037175	C	T	75037175	3	4	131	1	0	0	0	0	1	0	0	0	2016	864	30	2	377	2	C1orf173	1	75037175	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	57505382	75037175	174213446	2	9978											
ADAM15	8751	genome.wustl.edu	37	chr1	155030473	155030473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaagctgtgtgcatgcaCgggcgttgtgcctcctatgc	15	11	0	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:155030473C>T	ENST00000356955.2	+	14	1664	c.1563C>T	c.(1561-1563)caC>caT	p.H521H	ADAM15_ENST00000271836.6_Silent_p.H521H|ADAM15_ENST00000368410.2_Silent_p.H227H|ADAM15_ENST00000531455.1_Silent_p.H531H|ADAM15_ENST00000449910.2_Silent_p.H521H|ADAM15_ENST00000360674.4_Silent_p.H521H|ADAM15_ENST00000359280.4_Silent_p.H521H|ADAM15_ENST00000447332.3_Silent_p.H505H|ADAM15_ENST00000368413.1_Silent_p.H227H|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.H521H|ADAM15_ENST00000368412.3_Silent_p.H521H	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	521	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGTGCATGCACGGGCGTTGTG	0.632																																																	0								ENSG00000143537						83	80	81					1																	155030473		2203	4300	6503	ADAM15	SO:0001819	synonymous_variant	0			-	HGNC	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1563C>T	1.37:g.155030473C>T		Somatic	0	29	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.H521	ENST00000356955.2	37	c.1563	CCDS1087.1	1																																																																																			-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	protein_coding	OTTHUMT00000387168.1	C	NM_003815	-		155030473	1	no_errors	ENST00000356955	ensembl	human	known	74_37	silent	SNP	0.081	T	T	155030473	C	T	155030473	2	4	131	1	0	0	0	0	0	0	0	1	237	535	19	1		1	ADAM15	1	155030473	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	79993298	155030473	94220148	3	9979											
ATP1A4	480	genome.wustl.edu	37	chr1	160156148	160156148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaactcctcatccgtcagCacccggatggtgaggctccc	10	15	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:160156148C>T	ENST00000368081.4	+	21	3523	c.3052C>T	c.(3052-3054)Cac>Tac	p.H1018Y	ATP1A4_ENST00000470705.1_Missense_Mutation_p.H154Y	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1018					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCGTCAGCACCCGGATGG	0.567																																																	0								ENSG00000132681						154	158	157					1																	160156148		2203	4300	6503	ATP1A4	SO:0001583	missense	0			-	HGNC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.3052C>T	1.37:g.160156148C>T	ENSP00000357060:p.His1018Tyr	Somatic	0	17	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.H1018Y	ENST00000368081.4	37	c.3052	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	c	0.100	-1.154148	0.01700	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.87491	-2.26;-2.26	4.88	-1.79	0.07932	ATPase, P-type,  transmembrane domain (1);	1.567720	0.04217	N	0.332829	T	0.49355	0.1552	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43491	-0.9388	10	0.27785	T	0.31	.	5.3586	0.16075	0.1549:0.3344:0.0:0.5107	.	1018	Q13733	AT1A4_HUMAN	Y	1018;154	ENSP00000357060:H1018Y;ENSP00000433094:H154Y	ENSP00000357060:H1018Y	H	+	1	0	ATP1A4	158422772	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.129000	0.15830	-0.221000	0.09973	0.444000	0.29173	CAC	-	tigrfam_ATPase_P-typ_Na/K_IIC		0.567	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	protein_coding	OTTHUMT00000077415.1	C	NM_144699	-		160156148	1	no_errors	ENST00000368081	ensembl	human	known	74_37	missense	SNP	0.000	T	T	160156148	C	T	160156148	3	4	131	1	0	0	0	0	1	0	0	0	1131	710	25	2	3134	2	ATP1A4	1	160156148	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	5125675	160156148	89094473	4	9980											
SLC9A11	284525	genome.wustl.edu	37	chr1	173556926	173556926	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttataacgacatatccaattAtgatgcttgctgtagaaaag	7	6	0	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:173556926A>T	ENST00000367714.3	-	5	823	c.401T>A	c.(400-402)aTa>aAa	p.I134K	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I32K|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	134					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATATCCAATTATGATGCTTGC	0.353																																																	0								ENSG00000162753						93	94	94					1																	173556926		2203	4299	6502	SLC9C2	SO:0001583	missense	0			-	HGNC	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.401T>A	1.37:g.173556926A>T	ENSP00000356687:p.Ile134Lys	Somatic	0	115	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	89	42.58	Q86UF3	Missense_Mutation	SNP							pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.I134K	ENST00000367714.3	37	c.401	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369105	0.42003	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13538	2.58;2.58	5.59	3.23	0.37069	Cation/H+ exchanger (1);	1.025750	0.07750	N	0.948496	T	0.07279	0.0184	L	0.44542	1.39	0.09310	N	1	P	0.50369	0.934	P	0.47206	0.541	T	0.34675	-0.9819	10	0.62326	D	0.03	-4.903	7.372	0.26806	0.8245:0.0:0.1755:0.0	.	134	Q5TAH2	S9A11_HUMAN	K	134;32	ENSP00000356687:I134K;ENSP00000445437:I32K	ENSP00000356687:I134K	I	-	2	0	SLC9A11	171823549	0.005000	0.15991	0.000000	0.03702	0.012000	0.07955	0.645000	0.24782	0.393000	0.25203	0.482000	0.46254	ATA	-	pfam_Cation/H_exchanger		0.353	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	protein_coding	OTTHUMT00000084205.1	A	NM_178527	-		173556926	-1	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	SNP	0.001	T	T	173556926	A	T	173556926	3	4	131	1	0	0	0	0	1	0	0	0	14719	449	16	5	3069	5	SLC9A11	1	173556926	Missense_Mutation	SNP	A	TCGA-DX-AB37-01A-11D-A417-09	13400778	173556926	75693695	5	9981											
ZBTB41	360023	genome.wustl.edu	37	chr1	197128578	197128578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagataagattgttctctagGatctagcatttgttcaggtc	9	6	3	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:197128578G>A	ENST00000367405.4	-	10	2709	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	881					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(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTTCTCTAGGATCTAGCATT	0.378																																																	0								ENSG00000177888						189	191	190					1																	197128578		2203	4299	6502	ZBTB41	SO:0001583	missense	0			-	HGNC		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2641C>T	1.37:g.197128578G>A	ENSP00000356375:p.Pro881Ser	Somatic	0	89	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	71	34.26	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P881S	ENST00000367405.4	37	c.2641	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199327	0.38806	.	.	ENSG00000177888	ENST00000367405	T	0.04970	3.52	5.63	5.63	0.86233	.	0.000000	0.43416	D	0.000573	T	0.04861	0.0131	N	0.20986	0.625	0.42482	D	0.99286	B	0.14012	0.009	B	0.12156	0.007	T	0.44590	-0.9318	10	0.29301	T	0.29	.	8.9104	0.35550	0.0743:0.0:0.7765:0.1492	.	881	Q5SVQ8	ZBT41_HUMAN	S	881	ENSP00000356375:P881S	ENSP00000356375:P881S	P	-	1	0	ZBTB41	195395201	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.066000	0.71185	2.657000	0.90304	0.591000	0.81541	CCT	-	NULL		0.378	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	protein_coding	OTTHUMT00000088249.2	G	NM_194314	-		197128578	-1	no_errors	ENST00000367405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	197128578	G	A	197128578	3	1	131	1	0	0	0	0	1	0	0	0	17550	1174	41	2	92	2	ZBTB41	1	197128578	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	23571652	197128578	52122043	6	9982											
ZBTB41	360023	genome.wustl.edu	37	chr1	197128821	197128821	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacttcagcagatacattctGtaacatcgtcttggcttccg	7	11	3	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:197128821G>C	ENST00000367405.4	-	10	2466	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	800					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(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GATACATTCTGTAACATCGTC	0.443																																																	0								ENSG00000177888						196	177	184					1																	197128821		2203	4300	6503	ZBTB41	SO:0001583	missense	0			-	HGNC		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2398C>G	1.37:g.197128821G>C	ENSP00000356375:p.Gln800Glu	Somatic	0	80	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	53	28.38	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q800E	ENST00000367405.4	37	c.2398	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063089	0.36373	.	.	ENSG00000177888	ENST00000367405	T	0.05513	3.43	6.17	5.21	0.72293	.	0.000000	0.41605	D	0.000849	T	0.04952	0.0133	N	0.12746	0.255	0.37923	D	0.931767	B	0.02656	0.0	B	0.06405	0.002	T	0.43702	-0.9375	10	0.42905	T	0.14	.	15.5383	0.76021	0.0:0.2508:0.7492:0.0	.	800	Q5SVQ8	ZBT41_HUMAN	E	800	ENSP00000356375:Q800E	ENSP00000356375:Q800E	Q	-	1	0	ZBTB41	195395444	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.666000	0.68059	2.941000	0.99782	0.655000	0.94253	CAG	-	NULL		0.443	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	protein_coding	OTTHUMT00000088249.2	G	NM_194314	-		197128821	-1	no_errors	ENST00000367405	ensembl	human	known	74_37	missense	SNP	0.994	C	C	197128821	G	C	197128821	3	2	131	1	0	0	0	0	1	0	0	0	17550	1386	48	4	335	4	ZBTB41	1	197128821	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	243	197128821	52121800	7	9983											
CNIH3	149111	genome.wustl.edu	37	chr1	224872522	224872522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggttgaggaacatcgagCgcatctgcttccttctgcga	11	11	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr1:224872522C>T	ENST00000272133.3	+	3	1057	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	59					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GAACATCGAGCGCATCTGCTT	0.532																																																	0								ENSG00000143786						204	164	177					1																	224872522		2203	4300	6503	CNIH3	SO:0001583	missense	0			-	HGNC	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.175C>T	1.37:g.224872522C>T	ENSP00000272133:p.Arg59Cys	Somatic	0	49	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33		Missense_Mutation	SNP							pfam_Cornichon	p.R59C	ENST00000272133.3	37	c.175	CCDS1544.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944782	0.73672	.	.	ENSG00000143786	ENST00000272133	T	0.42900	0.96	4.49	4.49	0.54785	.	0.000000	0.85682	U	0.000000	T	0.48333	0.1494	N	0.22421	0.69	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.51733	-0.8668	10	0.66056	D	0.02	-12.5912	11.8507	0.52410	0.1756:0.8244:0.0:0.0	.	59	Q8TBE1	CNIH3_HUMAN	C	59	ENSP00000272133:R59C	ENSP00000272133:R59C	R	+	1	0	CNIH3	222939145	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	2.526000	0.45607	2.063000	0.61619	0.551000	0.68910	CGC	-	NULL		0.532	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNIH3	protein_coding	OTTHUMT00000091752.2	C	NM_152495	-		224872522	1	no_errors	ENST00000272133	ensembl	human	known	74_37	missense	SNP	1.000	T	T	224872522	C	T	224872522	3	4	131	1	0	0	0	0	1	0	0	0	3606	768	27	1	185	1	CNIH3	1	224872522	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	27743701	224872522	24378099	8	9984											
APOB	338	genome.wustl.edu	37	chr2	21229754	21229754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatggcaggaataaaaAtatggcttatggtacacaat	9	7	0	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr2:21229754A>G	ENST00000233242.1	-	26	10113	c.9986T>C	c.(9985-9987)aTt>aCt	p.I3329T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3329					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)					AGGAATAAAAATATGGCTTAT	0.373																																																	0								ENSG00000084674						92	96	94					2																	21229754		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.9986T>C	2.37:g.21229754A>G	ENSP00000233242:p.Ile3329Thr	Somatic	0	48	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I3329T	ENST00000233242.1	37	c.9986	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	12.60	1.985671	0.35036	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39229	1.09	5.41	5.41	0.78517	.	0.205262	0.33753	N	0.004596	T	0.73087	0.3542	M	0.93197	3.39	0.44432	D	0.997354	D	0.76494	0.999	D	0.79784	0.993	T	0.81265	-0.1011	10	0.72032	D	0.01	.	15.4433	0.75204	1.0:0.0:0.0:0.0	.	3329	P04114	APOB_HUMAN	T	3329	ENSP00000233242:I3329T	ENSP00000233242:I3329T	I	-	2	0	APOB	21083259	1.000000	0.71417	0.898000	0.35279	0.709000	0.40893	6.771000	0.74996	2.034000	0.60081	0.533000	0.62120	ATT	-	NULL		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	A		-		21229754	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.142	G	G	21229754	A	G	21229754	3	3	131	1	0	0	0	0	1	0	0	0	785	101	4	5	3721	5	APOB	2	21229754	Missense_Mutation	SNP	A	TCGA-DX-AB37-01A-11D-A417-09		21229754	221969619	9	9985											
BIRC6	57448	genome.wustl.edu	37	chr2	32582523	32582523	+	Frame_Shift_Del	DEL	G	G	-													aaagtcatcgacggcacctcGggggccacactgcaggcctc							TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr2:32582523delG	ENST00000421745.2	+	1	428	c.294delG	c.(292-294)tcgfs	p.S98fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	98					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACGGCACCTCGGGGGCCACAC	0.711																																					Pancreas(94;175 1509 16028 18060 45422)												0								ENSG00000115760						17	11	13					2																	32582523		2029	3987	6016	BIRC6	SO:0001589	frameshift_variant	0				HGNC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.294delG	2.37:g.32582523delG	ENSP00000393596:p.Ser98fs	Somatic	0	10	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	Q9ULD1	Frame_Shift_Del	DEL							pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A100fs	ENST00000421745.2	37	c.294	CCDS33175.2	2																																																																																			-	superfamily_WD40_repeat_dom		0.711	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	G	NM_016252			32582523	1	no_errors	ENST00000421745	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	32582523	G	-	32582523	7	5	131	1	0	1	0	1	0	0	0	0	1438	1103	39	0	296	0	BIRC6	2	32582523	Frame_Shift_Del	DEL	G	TCGA-DX-AB37-01A-11D-A417-09	11352769	32582523	210616850	10	9986											
XIRP2	129446	genome.wustl.edu	37	chr2	168101135	168101135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtggaagaaacagaaaGtaaaactgaacaaactagag	10	4	0	5			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr2:168101135G>T	ENST00000409195.1	+	9	3322	c.3233G>T	c.(3232-3234)aGt>aTt	p.S1078I	XIRP2_ENST00000409273.1_Missense_Mutation_p.S856I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1078I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	903					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						GAAACAGAAAGTAAAACTGAA	0.348																																																	0								ENSG00000163092						31	29	30					2																	168101135		1812	4073	5885	XIRP2	SO:0001583	missense	0			-	HGNC	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.3233G>T	2.37:g.168101135G>T	ENSP00000386840:p.Ser1078Ile	Somatic	0	154	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	133	15.82	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.S1078I	ENST00000409195.1	37	c.3233	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	1.963	-0.438475	0.04636	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02837	4.14;4.14;4.15	6.08	-0.0844	0.13690	.	0.516189	0.25151	N	0.032759	T	0.01765	0.0056	L	0.41710	1.295	0.09310	N	0.999997	B;B;B	0.33171	0.172;0.4;0.4	B;B;B	0.24269	0.023;0.052;0.052	T	0.46830	-0.9163	10	0.19147	T	0.46	-0.9751	1.8213	0.03111	0.2608:0.224:0.4002:0.1151	.	903;903;856	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1078;1078;856	ENSP00000386840:S1078I;ENSP00000295237:S1078I;ENSP00000387255:S856I	ENSP00000295237:S1078I	S	+	2	0	XIRP2	167809381	0.001000	0.12720	0.625000	0.29200	0.347000	0.29111	-0.275000	0.08525	-0.295000	0.08960	-0.150000	0.13652	AGT	-	NULL		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381	-		168101135	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.001	T	T	168101135	G	T	168101135	3	4	131	1	0	0	0	0	1	0	0	0	17437	1029	36	3	3263	3	XIRP2	2	168101135	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	135518612	168101135	75098238	11	9987											
ZDBF2	57683	genome.wustl.edu	37	chr2	207175936	207175936	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcattagaaagtatatttcGaaatactctgtctttttacg	5	6	3	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr2:207175936G>T	ENST00000374423.3	+	5	7070	c.6684G>T	c.(6682-6684)tcG>tcT	p.S2228S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363																																																	0								ENSG00000204186						39	38	38					2																	207175936		1817	4076	5893	ZDBF2	SO:0001819	synonymous_variant	0			-	HGNC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6684G>T	2.37:g.207175936G>T		Somatic	0	105	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	121	12.32	Q6ZNP7|Q6ZSN8	Silent	SNP							pfam_Znf_DBF,smart_Znf_DBF	p.S2228	ENST00000374423.3	37	c.6684	CCDS46501.1	2																																																																																			-	NULL		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	G	NM_020923	-		207175936	1	no_errors	ENST00000374423	ensembl	human	known	74_37	silent	SNP	0.152	T	T	207175936	G	T	207175936	2	4	131	1	0	0	0	0	0	0	0	1	17606	1045	37	3		3	ZDBF2	2	207175936	Silent	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	39074801	207175936	36023437	12	9988											
GNL3	26354	genome.wustl.edu	37	chr3	52727524	52727524	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgaaaagcggcttcaatctgGaagaactggaaaagaacaat	10	6	2	3			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr3:52727524G>T	ENST00000418458.1	+	12	1461	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*	SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000459623.1_RNA|GNL3_ENST00000394799.2_Nonsense_Mutation_p.E418*|GLT8D1_ENST00000463827.1_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	430	Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CTTCAATCTGGAAGAACTGGA	0.448																																																	0								ENSG00000163938						159	166	164					3																	52727524		2203	4300	6503	GNL3	SO:0001587	stop_gained	0			-	HGNC	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1288G>T	3.37:g.52727524G>T	ENSP00000395772:p.Glu430*	Somatic	0	46	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Nonsense_Mutation	SNP							pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.E430*	ENST00000418458.1	37	c.1288	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.273903	0.97431	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	.	.	.	5.87	5.87	0.94306	.	0.281328	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.9296	0.86187	0.0:0.0:1.0:0.0	.	.	.	.	X	430;418	.	ENSP00000378278:E418X	E	+	1	0	GNL3	52702564	1.000000	0.71417	0.973000	0.42090	0.685000	0.39939	4.875000	0.63072	2.780000	0.95670	0.563000	0.77884	GAA	-	NULL		0.448	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	protein_coding	OTTHUMT00000352032.1	G	NM_014366	-		52727524	1	no_errors	ENST00000418458	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	52727524	G	T	52727524	4	4	131	1	0	0	0	0	0	1	0	0	6539	1175	41	3	1334	3	GNL3	3	52727524	Nonsense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		52727524	145294906	13	9989											
DRD3	1814	genome.wustl.edu	37	chr3	113850156	113850156	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcttttcaactctcctcctCtttcttggaagcctggtcca	5	15	5	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr3:113850156C>A	ENST00000460779.1	-	7	1104	c.815G>T	c.(814-816)aGa>aTa	p.R272I	DRD3_ENST00000295881.7_Missense_Mutation_p.R272I|DRD3_ENST00000383673.2_Missense_Mutation_p.R272I|DRD3_ENST00000467632.1_Missense_Mutation_p.R272I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	272					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCTCCTCCTCTTTCTTGGAA	0.542																																																	0								ENSG00000151577						160	166	164					3																	113850156		2203	4300	6503	DRD3	SO:0001583	missense	0			-	HGNC		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.815G>T	3.37:g.113850156C>A	ENSP00000419402:p.Arg272Ile	Somatic	0	32	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	A1A4V5|Q4VBM8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.R272I	ENST00000460779.1	37	c.815	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	5.855	0.341891	0.11069	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.73258	-0.69;-0.69;-0.69;-0.73	5.28	-4.04	0.04010	GPCR, rhodopsin-like superfamily (1);	1.485970	0.03632	N	0.238109	T	0.52451	0.1735	N	0.11845	0.185	0.18873	N	0.999982	B;B;B;B	0.18310	0.027;0.013;0.013;0.019	B;B;B;B	0.27380	0.039;0.079;0.058;0.029	T	0.45071	-0.9286	10	0.40728	T	0.16	.	7.8785	0.29608	0.0:0.2819:0.2066:0.5115	.	272;272;272;272	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	272	ENSP00000419402:R272I;ENSP00000420662:R272I;ENSP00000373169:R272I;ENSP00000295881:R272I	ENSP00000281274:R272I	R	-	2	0	DRD3	115332846	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-0.156000	0.10100	-0.707000	0.05022	-0.145000	0.13849	AGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	protein_coding	OTTHUMT00000354699.1	C	NM_000796.3	-		113850156	-1	no_errors	ENST00000383673	ensembl	human	known	74_37	missense	SNP	0.002	A	A	113850156	C	A	113850156	3	1	131	1	0	0	0	0	1	0	0	0	4760	913	32	3	395	3	DRD3	3	113850156	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	61122632	113850156	84172274	14	9990											
POLQ	10721	genome.wustl.edu	37	chr3	121168204	121168204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaatatagcatgcagcatCattttctttaatgcccatct	5	10	4	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr3:121168204C>A	ENST00000264233.5	-	26	7350	c.7222G>T	c.(7222-7224)Gat>Tat	p.D2408Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2408					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATGCAGCATCATTTTCTTTA	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						215	212	213					3																	121168204		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7222G>T	3.37:g.121168204C>A	ENSP00000264233:p.Asp2408Tyr	Somatic	0	69	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	79	26.85	O95160|Q6VMB5	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.D2408Y	ENST00000264233.5	37	c.7222	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104074	0.76983	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96774	-4.12	5.41	5.41	0.78517	DNA-directed DNA polymerase, family A, palm domain (2);	0.349867	0.32769	N	0.005679	D	0.97920	0.9316	M	0.82323	2.585	0.40986	D	0.984819	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.971	D	0.98942	1.0791	10	0.87932	D	0	.	13.5043	0.61476	0.0:0.9226:0.0:0.0774	.	2408;1580	O75417;O75417-2	DPOLQ_HUMAN;.	Y	2031;2408;2544	ENSP00000264233:D2408Y	ENSP00000264233:D2408Y	D	-	1	0	POLQ	122650894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.147000	0.77382	2.524000	0.85096	0.655000	0.94253	GAT	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	C	NM_199420	-		121168204	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121168204	C	A	121168204	3	1	131	1	0	0	0	0	1	0	0	0	12210	826	29	3	570	3	POLQ	3	121168204	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	7318048	121168204	76854226	15	9991											
C3orf37	56941	genome.wustl.edu	37	chr3	129017344	129017344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctataccatcatcacagtgGattcctgcaaaggcttgagt	8	11	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr3:129017344G>A	ENST00000383463.4	+	5	690	c.601G>A	c.(601-603)Gat>Aat	p.D201N	HMCES_ENST00000417226.2_Missense_Mutation_p.D159N|HMCES_ENST00000502878.2_Missense_Mutation_p.D201N|HMCES_ENST00000389735.3_Missense_Mutation_p.D201N	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	201							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CATCACAGTGGATTCCTGCAA	0.507																																																	0								ENSG00000183624						96	82	86					3																	129017344		2203	4300	6503	HMCES	SO:0001583	missense	0			-	HGNC	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.601G>A	3.37:g.129017344G>A	ENSP00000372955:p.Asp201Asn	Somatic	0	29	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	52	17.46	A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP							pfam_DUF159,superfamily_DUF159	p.D201N	ENST00000383463.4	37	c.601	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026862	0.54683	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	4.73	3.84	0.44239	.	0.263817	0.42053	D	0.000765	T	0.51160	0.1658	L	0.51853	1.615	0.46203	D	0.998927	B;B	0.31485	0.325;0.281	B;B	0.35655	0.198;0.207	T	0.53034	-0.8495	9	0.41790	T	0.15	-15.5732	9.919	0.41453	0.1004:0.0:0.8996:0.0	.	159;201	E7EMP6;Q96FZ2	.;CC037_HUMAN	N	153;201;159;111;201;201;201;111	.	ENSP00000372955:D201N	D	+	1	0	C3orf37	130500034	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.933000	0.56545	2.165000	0.68154	0.585000	0.79938	GAT	-	pfam_DUF159,superfamily_DUF159		0.507	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCES	protein_coding	OTTHUMT00000355470.2	G	NM_020187	-		129017344	1	no_errors	ENST00000383463	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129017344	G	A	129017344	3	1	131	1	0	0	0	0	1	0	0	0	2229	1174	41	2	615	2	C3orf37	3	129017344	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	7849140	129017344	69005086	16	9992											
PLS1	5357	genome.wustl.edu	37	chr3	142405129	142405129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catatctttccttgaaggacTcgagagcctattttcatctg	7	10	3	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr3:142405129T>A	ENST00000337777.3	+	9	1105	c.892T>A	c.(892-894)Tcg>Acg	p.S298T	PLS1_ENST00000497002.1_Missense_Mutation_p.S298T|PLS1_ENST00000457734.2_Missense_Mutation_p.S298T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	298	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTGAAGGACTCGAGAGCCTA	0.378																																																	0								ENSG00000120756						130	121	124					3																	142405129		2203	4300	6503	PLS1	SO:0001583	missense	0			-	HGNC	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.892T>A	3.37:g.142405129T>A	ENSP00000336831:p.Ser298Thr	Somatic	0	86	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	105	19.23	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP							pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.S298T	ENST00000337777.3	37	c.892	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173066	0.78452	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.36	5.36	0.76844	Calponin homology domain (5);	0.055299	0.85682	D	0.000000	D	0.96494	0.8856	M	0.91920	3.255	0.80722	D	1	P	0.45044	0.849	B	0.43478	0.421	D	0.97312	0.9938	10	0.87932	D	0	-10.3311	15.5191	0.75851	0.0:0.0:0.0:1.0	.	298	Q14651	PLSI_HUMAN	T	298;219;298;298	ENSP00000387890:S298T;ENSP00000417481:S219T;ENSP00000336831:S298T;ENSP00000418700:S298T	ENSP00000336831:S298T	S	+	1	0	PLS1	143887819	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.762000	0.85270	2.239000	0.73571	0.533000	0.62120	TCG	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.378	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	protein_coding	OTTHUMT00000354435.1	T	NM_002670	-		142405129	1	no_errors	ENST00000337777	ensembl	human	known	74_37	missense	SNP	1.000	A	A	142405129	T	A	142405129	3	1	131	1	0	0	0	0	1	0	0	0	12109	1551	54	5	922	5	PLS1	3	142405129	Missense_Mutation	SNP	T	TCGA-DX-AB37-01A-11D-A417-09	13387785	142405129	55617301	17	9993											
CLNK	116449	genome.wustl.edu	37	chr4	10566314	10566314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctttccaacctcgtctgtGtgttccaggtcggctgtcca	9	14	2	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr4:10566314G>C	ENST00000226951.6	-	7	619	c.380C>G	c.(379-381)aCa>aGa	p.T127R	CLNK_ENST00000507719.1_Missense_Mutation_p.T85R|CLNK_ENST00000442825.2_Missense_Mutation_p.T85R	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	127					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CCTCGTCTGTGTGTTCCAGGT	0.488																																					GBM(87;402 1286 6949 13902 35851)												0								ENSG00000109684						194	183	187					4																	10566314		2001	4160	6161	CLNK	SO:0001583	missense	0			-	HGNC	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.380C>G	4.37:g.10566314G>C	ENSP00000226951:p.Thr127Arg	Somatic	0	53	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	Q05C27|Q9P2U9	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.T127R	ENST00000226951.6	37	c.380	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325849	0.41197	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.47177	1.77;0.85;0.85	5.18	-8.51	0.00923	.	2.619650	0.01285	N	0.009867	T	0.28732	0.0712	N	0.24115	0.695	0.09310	N	1	B;P	0.51351	0.048;0.944	B;P	0.45913	0.015;0.497	T	0.48854	-0.8998	10	0.20519	T	0.43	5.7892	1.1771	0.01838	0.4233:0.185:0.2053:0.1864	.	85;127	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	R	127;127;85;85	ENSP00000226951:T127R;ENSP00000390744:T85R;ENSP00000427208:T85R	ENSP00000226951:T127R	T	-	2	0	CLNK	10175412	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.501000	0.02281	-1.990000	0.00978	-0.323000	0.08544	ACA	-	NULL		0.488	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	protein_coding	OTTHUMT00000359047.1	G	NM_052964	-		10566314	-1	no_errors	ENST00000226951	ensembl	human	known	74_37	missense	SNP	0.000	C	C	10566314	G	C	10566314	3	2	131	1	0	0	0	0	1	0	0	0	3549	1377	48	4	958	4	CLNK	4	10566314	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		10566314	180587962	18	9994											
ARAP2	116984	genome.wustl.edu	37	chr4	36148956	36148956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaaacatccagtttttcCccattttgaaccattgtgct	5	10	0	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr4:36148956C>T	ENST00000303965.4	-	19	3714	c.3225G>A	c.(3223-3225)ggG>ggA	p.G1075G		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1075	PH 4. {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						CCAGTTTTTCCCCATTTTGAA	0.343																																																	0								ENSG00000047365						98	110	106					4																	36148956		2202	4299	6501	ARAP2	SO:0001819	synonymous_variant	0			-	HGNC	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.3225G>A	4.37:g.36148956C>T		Somatic	0	166	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	146	15.12	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.G1075	ENST00000303965.4	37	c.3225	CCDS3441.1	4																																																																																			-	smart_Pleckstrin_homology		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	C	NM_015230	-		36148956	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	SNP	0.995	T	T	36148956	C	T	36148956	2	4	131	1	0	0	0	0	0	0	0	1	839	610	22	2		2	ARAP2	4	36148956	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	25582642	36148956	155005320	19	9995											
CSN1S1	1446	genome.wustl.edu	37	chr4	70800429	70800429	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccatcagagagcagtgagGtaagctctgtttatggggag	14	6	2	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr4:70800429G>T	ENST00000246891.4	+	4	154		c.e4+1		CSN1S1_ENST00000444405.3_Splice_Site|CSN1S1_ENST00000507763.1_Splice_Site|CSN1S1_ENST00000507772.1_Splice_Site|CSN1S1_ENST00000505782.1_Splice_Site	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GAGCAGTGAGGTAAGCTCTGT	0.343																																																	0								ENSG00000126545						180	175	176					4																	70800429		1848	4095	5943	CSN1S1	SO:0001630	splice_region_variant	0			-	HGNC	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.105+1G>T	4.37:g.70800429G>T		Somatic	0	35	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A1A510|A1A511|E9PB60|Q4PNR5	Splice_Site	SNP							-	e3+1	ENST00000246891.4	37	c.105+1	CCDS47067.1	4	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143139	0.37825	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	.	.	.	3.9	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1053	0.20069	0.227:0.0:0.773:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSN1S1	70835018	1.000000	0.71417	0.987000	0.45799	0.406000	0.30931	1.370000	0.34238	0.633000	0.30452	0.650000	0.86243	.	-	-		0.343	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSN1S1	protein_coding	OTTHUMT00000362629.1	G		-	Intron	70800429	1	no_errors	ENST00000246891	ensembl	human	known	74_37	splice_site	SNP	0.990	T	T	70800429	G	T	70800429	5	4	131	1	0	0	0	0	0	0	1	0	3949	1275	44	3	116	3	CSN1S1	4	70800429	Splice_Site	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	34651473	70800429	120353847	20	9996											
INTU	27152	genome.wustl.edu	37	chr4	128635153	128635153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagtgtcttctcttaaCcctgttaaagaacatggtgt	8	8	3	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr4:128635153C>A	ENST00000335251.6	+	15	2725	c.2622C>A	c.(2620-2622)aaC>aaA	p.N874K		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	874					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTCTCTTAACCCTGTTAAAG	0.373																																																	0								ENSG00000164066						155	155	155					4																	128635153		2203	4300	6503	INTU	SO:0001583	missense	0			-	HGNC	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2622C>A	4.37:g.128635153C>A	ENSP00000334003:p.Asn874Lys	Somatic	0	131	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	112	19.86	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N874K	ENST00000335251.6	37	c.2622	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678007	0.14841	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.2	-1.36	0.09085	.	0.393103	0.27455	N	0.019281	T	0.27765	0.0683	N	0.22421	0.69	0.48901	D	0.999723	B	0.30973	0.302	B	0.21708	0.036	T	0.01858	-1.1259	9	0.44086	T	0.13	-1.5991	4.3877	0.11325	0.0:0.2137:0.3396:0.4467	.	874	Q9ULD6	PDZD6_HUMAN	K	874	.	ENSP00000334003:N874K	N	+	3	2	INTU	128854603	0.001000	0.12720	0.829000	0.32907	0.552000	0.35366	0.458000	0.21892	-0.194000	0.10399	0.650000	0.86243	AAC	-	NULL		0.373	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	protein_coding	OTTHUMT00000364147.2	C	XM_371707	-		128635153	1	no_errors	ENST00000335251	ensembl	human	known	74_37	missense	SNP	0.497	A	A	128635153	C	A	128635153	3	1	131	1	0	0	0	0	1	0	0	0	7788	506	18	3	2680	3	INTU	4	128635153	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	57834724	128635153	62519123	21	9997											
TRIO	7204	genome.wustl.edu	37	chr5	14368832	14368832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagaaaacacatcagagcGcgctgcaggtgcagcagaag	12	10	2	3	rs139892017		TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr5:14368832G>A	ENST00000344204.4	+	17	2914	c.2890G>A	c.(2890-2892)Gcg>Acg	p.A964T	TRIO_ENST00000509967.2_Missense_Mutation_p.A915T|TRIO_ENST00000537187.1_Missense_Mutation_p.A964T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	964					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)					ACATCAGAGCGCGCTGCAGGT	0.532																																																	0								ENSG00000038382	G	THR/ALA	0,4406		0,0,2203	82	76	78		2890	5.8	0.2	5	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIO	NM_007118.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	964/3098	14368832	1,13005	2203	4300	6503	TRIO	SO:0001583	missense	0			-	HGNC	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.2890G>A	5.37:g.14368832G>A	ENSP00000339299:p.Ala964Thr	Somatic	0	19	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A964T	ENST00000344204.4	37	c.2890	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297314	0.81025	0.0	1.16E-4	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.50277	0.75;0.75;0.75	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.67397	2.05	0.80722	D	1	P;D;D	0.89917	0.903;0.982;1.0	B;P;D	0.85130	0.408;0.778;0.997	T	0.68625	-0.5359	10	0.54805	T	0.06	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	915;964;964	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	964;964;915;651	ENSP00000339299:A964T;ENSP00000446348:A964T;ENSP00000445592:A915T	ENSP00000339299:A964T	A	+	1	0	TRIO	14421832	1.000000	0.71417	0.159000	0.22649	0.910000	0.53928	8.016000	0.88706	2.724000	0.93272	0.563000	0.77884	GCG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.532	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	G	NM_007118	rs139892017		14368832	1	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14368832	G	A	14368832	3	1	131	1	0	0	0	0	1	0	0	0	16559	1087	38	1	2956	1	TRIO	5	14368832	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		14368832	166546428	22	9998											
MSH3	4437	genome.wustl.edu	37	chr5	79950700	79950717	+	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC	-													accaggtggaccctggcgctGcagcggctgcagcggccgca					rs530525176|rs2431220|rs2405875|rs144776112|rs201874762|rs201906899	byFrequency	TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr5:79950700_79950717delGCAGCGGCTGCAGCGGCC	ENST00000265081.6	+	1	234_251	c.154_171delGCAGCGGCTGCAGCGGCC	c.(154-171)gcagcggctgcagcggccdel	p.AAAAAA52del	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	52	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCTGGCGCTgcagcggctgcagcggccgcagcggccg	0.693								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	1153,2933		197,759,1087					,		0.2		dbSNP_100	12	2199,5723		382,1435,2144	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	579,2194,3231	A1A1,A1R,RR		27.7581,28.2183,27.9147	,	,		3352,8656				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.154_171delGCAGCGGCTGCAGCGGCC	5.37:g.79950700_79950717delGCAGCGGCTGCAGCGGCC	ENSP00000265081:p.Ala52_Ala57del	Somatic					0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAA55in_frame_del	ENST00000265081.6	37	c.154_171	CCDS34195.1	5																																																																																			-	NULL		0.693	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCAGCGGCTGCAGCGGCC	NM_002439			79950717	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-	-	79950717	GCAGCGGCTGCAGCGGCC	-	79950700	7	5	131	1	0	1	0	1	0	0	0	0	9873	1319	46	0	156	0	MSH3	5	79950700	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	TCGA-DX-AB37-01A-11D-A417-09	65581868	79950700	100964560	23	9999											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101834502	101834502	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagcggctctactccccttGagacttcatcctggctccca	7	18	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr5:101834502G>C	ENST00000506729.1	-	1	218	c.47C>G	c.(46-48)tCa>tGa	p.S16*	SLCO6A1_ENST00000379807.3_Nonsense_Mutation_p.S16*|SLCO6A1_ENST00000379810.1_Nonsense_Mutation_p.S16*|SLCO6A1_ENST00000389019.3_Nonsense_Mutation_p.S16*|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Nonsense_Mutation_p.S16*|SLCO6A1_ENST00000514551.1_5'Flank			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			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)		TACTCCCCTTGAGACTTCATC	0.687																																																	0								ENSG00000205359						74	86	82					5																	101834502		2202	4294	6496	SLCO6A1	SO:0001587	stop_gained	0			-	HGNC	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.47C>G	5.37:g.101834502G>C	ENSP00000421339:p.Ser16*	Somatic	0	62	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	79	18.56	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Nonsense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S16*	ENST00000506729.1	37	c.47	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444464	0.63178	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	.	.	.	3.21	-6.41	0.01938	.	41.129500	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	2.0193	0.03505	0.3196:0.1755:0.3771:0.1278	.	.	.	.	X	16	.	ENSP00000369135:S16X	S	-	2	0	SLCO6A1	101862401	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.346000	0.01096	-4.114000	0.00072	-0.680000	0.03767	TCA	-	NULL		0.687	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	protein_coding	OTTHUMT00000370335.1	G	NM_173488	-		101834502	-1	no_errors	ENST00000379807	ensembl	human	known	74_37	nonsense	SNP	0.000	C	C	101834502	G	C	101834502	4	2	131	1	0	0	0	0	0	1	0	0	14740	1294	45	4	2164	4	SLCO6A1	5	101834502	Nonsense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	21883802	101834502	79080758	24	10000											
APC	324	genome.wustl.edu	37	chr5	112178997	112178997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttggagaagaactggaaGttcatcttcaattctttctg	8	8	5	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr5:112178997G>A	ENST00000457016.1	+	16	8086	c.7706G>A	c.(7705-7707)aGt>aAt	p.S2569N	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S2569N|APC_ENST00000508376.2_Missense_Mutation_p.S2569N			P25054	APC_HUMAN	adenomatous polyposis coli	2569	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAACTGGAAGTTCATCTTCA	0.398		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)						ENSG00000134982						78	80	79					5																	112178997		2202	4300	6502	APC	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	-	HGNC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7706G>A	5.37:g.112178997G>A	ENSP00000413133:p.Ser2569Asn	Somatic	0	38	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP							pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S2569N	ENST00000457016.1	37	c.7706	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841060	0.71488	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.87029	-2.2;-2.2;-2.2	5.97	5.97	0.96955	Adenomatous polyposis coli protein basic domain (1);	0.074585	0.85682	D	0.000000	D	0.92779	0.7704	M	0.61703	1.905	0.58432	D	0.999995	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.91132	0.4938	9	.	.	.	-18.3416	20.4238	0.99064	0.0:0.0:1.0:0.0	.	2571;2569	Q4LE70;P25054	.;APC_HUMAN	N	2569	ENSP00000413133:S2569N;ENSP00000257430:S2569N;ENSP00000427089:S2569N	.	S	+	2	0	APC	112206896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.188000	0.94921	2.828000	0.97474	0.655000	0.94253	AGT	-	pfam_APC_basic_dom		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	G	NM_000038	-		112178997	1	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112178997	G	A	112178997	3	1	131	1	0	0	0	0	1	0	0	0	763	1029	36	2	7764	2	APC	5	112178997	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	10344495	112178997	68736263	25	10001											
MAS1L	116511	genome.wustl.edu	37	chr6	29455533	29455533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcattttgaagaaagacGccacagagctgagataccag	10	9	1	5			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr6:29455533G>A	ENST00000377127.3	-	1	205	c.147C>T	c.(145-147)ggC>ggT	p.G49G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	49					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAAGAAAGACGCCACAGAGCT	0.502																																					NSCLC(153;755 1987 3859 11251 32945)												0								ENSG00000204687						89	88	88					6																	29455533		2203	4300	6503	MAS1L	SO:0001819	synonymous_variant	0			-	HGNC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.147C>T	6.37:g.29455533G>A		Somatic	0	32	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q5SUN5	Silent	SNP							pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G49	ENST00000377127.3	37	c.147	CCDS4661.1	6																																																																																			-	NULL		0.502	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	protein_coding	OTTHUMT00000076126.2	G	NM_052967	-		29455533	-1	no_errors	ENST00000377127	ensembl	human	known	74_37	silent	SNP	0.003	A	A	29455533	G	A	29455533	2	1	131	1	0	0	0	0	0	0	0	1	9323	1074	38	1		1	MAS1L	6	29455533	Silent	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		29455533	141659534	26	10002											
TBX18	9096	genome.wustl.edu	37	chr6	85447068	85447068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccagacaaaaggtgagGgtgagtggcaggaacgccat	17	7	0	3			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr6:85447068G>A	ENST00000369663.5	-	8	1496	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	387					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)		AAAAGGTGAGGGTGAGTGGCA	0.532																																																	0								ENSG00000112837						74	76	75					6																	85447068		2203	4300	6503	TBX18	SO:0001583	missense	0			-	HGNC	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.1159C>T	6.37:g.85447068G>A	ENSP00000358677:p.Pro387Ser	Somatic	0	55	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.P387S	ENST00000369663.5	37	c.1159	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	G	0.195	-1.049751	0.01981	.	.	ENSG00000112837	ENST00000369663	D	0.85773	-2.03	5.48	3.65	0.41850	.	0.721310	0.13292	N	0.398908	T	0.44329	0.1288	N	0.12182	0.205	0.43130	D	0.994867	B	0.09022	0.002	B	0.06405	0.002	T	0.45041	-0.9288	10	0.06365	T	0.9	.	3.3168	0.07036	0.1477:0.1381:0.5713:0.1429	.	387	O95935	TBX18_HUMAN	S	387	ENSP00000358677:P387S	ENSP00000358677:P387S	P	-	1	0	TBX18	85503787	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.180000	0.42537	0.644000	0.30656	0.585000	0.79938	CCT	-	NULL		0.532	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	protein_coding	OTTHUMT00000041378.2	G	NM_001080508	-		85447068	-1	no_errors	ENST00000369663	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85447068	G	A	85447068	3	1	131	1	0	0	0	0	1	0	0	0	15660	1232	43	2	668	2	TBX18	6	85447068	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	55991535	85447068	85667999	27	10003											
ZNF292	23036	genome.wustl.edu	37	chr6	87943156	87943156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaagctgtgttctgacCatccagagattggcataaaa	9	8	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr6:87943156C>T	ENST00000369577.3	+	5	695	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.H213Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	218						nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGTTCTGACCATCCAGAGAT	0.373																																																	0								ENSG00000188994						143	139	140					6																	87943156		1862	4107	5969	ZNF292	SO:0001583	missense	0			-	HGNC	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.652C>T	6.37:g.87943156C>T	ENSP00000358590:p.His218Tyr	Somatic	0	123	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	103	22.56	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H218Y	ENST00000369577.3	37	c.652	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795571	0.16327	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08720	3.06;3.06	5.36	5.36	0.76844	.	0.153864	0.64402	D	0.000019	T	0.02767	0.0083	N	0.25647	0.755	0.35655	D	0.812111	B	0.31837	0.342	B	0.28638	0.092	T	0.39251	-0.9623	10	0.10377	T	0.69	.	19.4599	0.94912	0.0:1.0:0.0:0.0	.	218	O60281	ZN292_HUMAN	Y	218;213	ENSP00000358590:H218Y;ENSP00000342847:H213Y	ENSP00000342847:H213Y	H	+	1	0	ZNF292	87999875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.116000	0.57871	2.671000	0.90904	0.563000	0.77884	CAT	-	NULL		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	protein_coding	OTTHUMT00000376192.2	C	NM_015021	-		87943156	1	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	SNP	1.000	T	T	87943156	C	T	87943156	3	4	131	1	0	0	0	0	1	0	0	0	17833	594	21	2	670	2	ZNF292	6	87943156	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	2496088	87943156	83171911	28	10004											
TRIM4	89122	genome.wustl.edu	37	chr7	99490311	99490311	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgtatttttcacgtatctCccttcctgggagaagacgag	10	10	2	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr7:99490311C>A	ENST00000355947.2	-	7	1107	c.978G>T	c.(976-978)ggG>ggT	p.G326G	TRIM4_ENST00000349062.2_Silent_p.G300G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	326	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TCACGTATCTCCCTTCCTGGG	0.463																																																	0								ENSG00000146833						58	55	56					7																	99490311		2197	4290	6487	TRIM4	SO:0001819	synonymous_variant	0			-	HGNC	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.978G>T	7.37:g.99490311C>A		Somatic	0	36	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.G326	ENST00000355947.2	37	c.978	CCDS5679.1	7																																																																																			-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.463	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	protein_coding	OTTHUMT00000345050.1	C	NM_033017	-		99490311	-1	no_errors	ENST00000355947	ensembl	human	known	74_37	silent	SNP	0.994	A	A	99490311	C	A	99490311	2	1	131	1	0	0	0	0	0	0	0	1	16521	842	30	3		3	TRIM4	7	99490311	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09		99490311	59648352	29	10005											
RELN	5649	genome.wustl.edu	37	chr7	103183261	103183261	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgtttccactagaaagGattccacactttcgagatgg	10	8	0	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr7:103183261G>A	ENST00000428762.1	-	43	6747	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	RELN_ENST00000343529.5_Silent_p.I2196I|RELN_ENST00000424685.2_Silent_p.I2196I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2196					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)		CACTAGAAAGGATTCCACACT	0.383																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						108	103	104					7																	103183261		2203	4300	6503	RELN	SO:0001819	synonymous_variant	0			-	HGNC		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.6588C>T	7.37:g.103183261G>A		Somatic	0	91	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	78	31.58	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP							pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.I2196	ENST00000428762.1	37	c.6588	CCDS47680.1	7																																																																																			-	superfamily_Sialidases		0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	G	NM_005045	-		103183261	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	SNP	1.000	A	A	103183261	G	A	103183261	2	1	131	1	0	0	0	0	0	0	0	1	13228	1164	41	2		2	RELN	7	103183261	Silent	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	3692950	103183261	55955402	30	10006											
AMAC1L2	83650	genome.wustl.edu	37	chr8	11188715	11188715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagcgctgccagcccTctggtgccaccaatggcctg	12	17	1	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr8:11188715T>A	ENST00000382435.4	+	1	319	c.100T>A	c.(100-102)Tct>Act	p.S34T		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	34						integral component of membrane (GO:0016021)											CTGCCAGCCCTCTGGTGCCAC	0.672																																																	0								ENSG00000177710						58	63	61					8																	11188715		2203	4300	6503	SLC35G5	SO:0001583	missense	0			-	HGNC	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.100T>A	8.37:g.11188715T>A	ENSP00000371872:p.Ser34Thr	Somatic	0	120	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	97	14.91	A2RRL6	Missense_Mutation	SNP							pfam_DMT	p.S34T	ENST00000382435.4	37	c.100	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	T	0.102	-1.150730	0.01700	.	.	ENSG00000177710	ENST00000382435	T	0.29655	1.56	0.34	0.34	0.15985	.	0.000000	0.44097	D	0.000494	T	0.16471	0.0396	L	0.27053	0.805	0.21915	N	0.999471	B	0.21071	0.051	B	0.15052	0.012	T	0.15723	-1.0427	9	0.27785	T	0.31	-9.0173	.	.	.	.	34	Q96KT7	S35G5_HUMAN	T	34	ENSP00000371872:S34T	ENSP00000371872:S34T	S	+	1	0	SLC35G5	11226125	0.896000	0.30565	0.328000	0.25416	0.055000	0.15305	0.169000	0.16641	0.358000	0.24211	0.076000	0.15429	TCT	-	NULL		0.672	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	protein_coding	OTTHUMT00000207313.2	T	NM_054028	-		11188715	1	no_errors	ENST00000382435	ensembl	human	known	74_37	missense	SNP	0.727	A	A	11188715	T	A	11188715	3	1	131	1	0	0	0	0	1	0	0	0	560	1551	54	5	102	5	AMAC1L2	8	11188715	Missense_Mutation	SNP	T	TCGA-DX-AB37-01A-11D-A417-09		11188715	135175307	31	10007											
SCARA5	286133	genome.wustl.edu	37	chr8	27729476	27729476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgttgcatgtcacgctgGcatcttcggcatgtccacag	11	12	3	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr8:27729476G>A	ENST00000354914.3	-	9	1948	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	SCARA5_ENST00000380385.2_Missense_Mutation_p.A263V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	488	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)		TGTCACGCTGGCATCTTCGGC	0.587																																																	0								ENSG00000168079						154	114	127					8																	27729476		2203	4300	6503	SCARA5	SO:0001583	missense	0			-	HGNC	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.1463C>T	8.37:g.27729476G>A	ENSP00000346990:p.Ala488Val	Somatic	0	46	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP							pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.A488V	ENST00000354914.3	37	c.1463	CCDS6064.1	8	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167233	0.57476	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.36878	1.23;1.23	5.93	5.93	0.95920	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.060792	0.64402	D	0.000004	T	0.50616	0.1626	L	0.28776	0.89	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.49103	-0.8974	10	0.66056	D	0.02	.	17.8376	0.88704	0.0:0.0:1.0:0.0	.	263;488	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	V	488;263	ENSP00000346990:A488V;ENSP00000369746:A263V	ENSP00000346990:A488V	A	-	2	0	SCARA5	27785395	1.000000	0.71417	0.960000	0.40013	0.017000	0.09413	7.935000	0.87658	2.815000	0.96918	0.561000	0.74099	GCC	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR		0.587	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	protein_coding	OTTHUMT00000255223.2	G	NM_173833	-		27729476	-1	no_errors	ENST00000354914	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27729476	G	A	27729476	3	1	131	1	0	0	0	0	1	0	0	0	13888	1203	42	2	28	2	SCARA5	8	27729476	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	16540761	27729476	118634546	32	10008											
JPH1	56704	genome.wustl.edu	37	chr8	75227251	75227251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattatttttgtattttccCtcttctttggagccgtcagg	7	8	3	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr8:75227251C>T	ENST00000342232.4	-	2	1024	c.984G>A	c.(982-984)gaG>gaA	p.E328E		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	328					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TGTATTTTCCCTCTTCTTTGG	0.443																																																	0								ENSG00000104369						119	120	120					8																	75227251		2203	4300	6503	JPH1	SO:0001819	synonymous_variant	0			-	HGNC	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.984G>A	8.37:g.75227251C>T		Somatic	0	38	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	B2RTZ0	Silent	SNP							pfam_MORN,smart_MORN,pirsf_Junctophilin	p.E328	ENST00000342232.4	37	c.984	CCDS6217.1	8																																																																																			-	pirsf_Junctophilin		0.443	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	protein_coding	OTTHUMT00000379102.1	C		-		75227251	-1	no_errors	ENST00000342232	ensembl	human	known	74_37	silent	SNP	1.000	T	T	75227251	C	T	75227251	2	4	131	1	0	0	0	0	0	0	0	1	7962	680	24	2		2	JPH1	8	75227251	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	47497775	75227251	71136771	33	10009											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702334	27702334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggcggggaaggagatGctgctcaggttgagcgtttt	17	5	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr10:27702334G>T	ENST00000438700.3	-	1	963	c.846C>A	c.(844-846)agC>agA	p.S282R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	282					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGAAGGAGATGCTGCTCAGGT	0.617																																																	0								ENSG00000182077						63	69	67					10																	27702334		2203	4300	6503	PTCHD3	SO:0001583	missense	0			-	HGNC	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.846C>A	10.37:g.27702334G>T	ENSP00000417658:p.Ser282Arg	Somatic	0	30	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	I3L499|Q6ZU28	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.S282R	ENST00000438700.3	37	c.846	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	6.256	0.415396	0.11870	.	.	ENSG00000182077	ENST00000438700	D	0.85484	-1.99	3.74	-1.75	0.08031	.	2.189740	0.01705	N	0.027398	T	0.76011	0.3928	L	0.29908	0.895	0.09310	N	1	B	0.21753	0.06	B	0.25405	0.06	T	0.58115	-0.7693	10	0.21014	T	0.42	0.0305	5.4003	0.16293	0.402:0.3603:0.2377:0.0	.	282	Q3KNS1	PTHD3_HUMAN	R	282	ENSP00000417658:S282R	ENSP00000417658:S282R	S	-	3	2	PTCHD3	27742340	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.115000	0.15540	-0.214000	0.10078	-0.258000	0.10820	AGC	-	pfam_Patched		0.617	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	protein_coding	OTTHUMT00000047325.3	G	XM_370541	-		27702334	-1	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	SNP	0.000	T	T	27702334	G	T	27702334	3	4	131	1	0	0	0	0	1	0	0	0	12739	1310	46	3	1473	3	PTCHD3	10	27702334	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		27702334	107832413	34	10010											
OR51A4	401666	genome.wustl.edu	37	chr11	4967847	4967847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtttcttaaagtgaaagGgaagggaagaaccaggagca	13	5	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr11:4967847G>T	ENST00000380373.2	-	1	509	c.484C>A	c.(484-486)Cct>Act	p.P162T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P162S(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGTGAAAGGGAAGGGAAGA	0.438																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000205497						196	187	190					11																	4967847		2185	4259	6444	OR51A4	SO:0001583	missense	0			-	HGNC	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.484C>A	11.37:g.4967847G>T	ENSP00000369731:p.Pro162Thr	Somatic	0	106	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	80	20.79		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P162T	ENST00000380373.2	37	c.484	CCDS31367.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157536	0.38119	.	.	ENSG00000205497	ENST00000380373	T	0.70869	-0.52	3.44	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74786	0.3762	L	0.43923	1.385	0.09310	N	1	D	0.69078	0.997	D	0.75484	0.986	T	0.61496	-0.7051	9	0.35671	T	0.21	.	8.1628	0.31209	0.2067:0.0:0.7933:0.0	.	162	Q8NGJ6	O51A4_HUMAN	T	162	ENSP00000369731:P162T	ENSP00000369731:P162T	P	-	1	0	OR51A4	4924423	0.055000	0.20627	0.002000	0.10522	0.180000	0.23129	1.970000	0.40520	0.278000	0.22164	0.479000	0.44913	CCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.438	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	protein_coding	OTTHUMT00000142821.1	G	NM_001005329	-		4967847	-1	no_errors	ENST00000380373	ensembl	human	known	74_37	missense	SNP	0.041	T	T	4967847	G	T	4967847	3	4	131	1	0	0	0	0	1	0	0	0	11089	1232	43	3	459	3	OR51A4	11	4967847	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		4967847	130038669	35	10011											
QSER1	79832	genome.wustl.edu	37	chr11	32955585	32955585	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagttatgaaaatggacctCtctgagtcttcaaaaccatt	7	8	3	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr11:32955585C>A	ENST00000399302.2	+	4	2729	c.2394C>A	c.(2392-2394)ctC>ctA	p.L798L	QSER1_ENST00000527788.1_Silent_p.L559L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	798										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAATGGACCTCTCTGAGTCTT	0.368																																																	0								ENSG00000060749						75	72	73					11																	32955585		1891	4116	6007	QSER1	SO:0001819	synonymous_variant	0			-	HGNC	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2394C>A	11.37:g.32955585C>A		Somatic	0	34	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	Q6ZU30|Q6ZUR5	Silent	SNP							NULL	p.L798	ENST00000399302.2	37	c.2394	CCDS41631.1	11																																																																																			-	NULL		0.368	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	protein_coding	OTTHUMT00000388448.1	C	NM_024774	-		32955585	1	no_errors	ENST00000399302	ensembl	human	known	74_37	silent	SNP	0.664	A	A	32955585	C	A	32955585	2	1	131	1	0	0	0	0	0	0	0	1	12890	900	32	3		3	QSER1	11	32955585	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	27987738	32955585	102050931	36	10012											
TUT1	64852	genome.wustl.edu	37	chr11	62342591	62342591	+	Frame_Shift_Del	DEL	G	G	-													tgagatgtcgaattgcttgaGggaggaaaacctgtaagaaa							TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr11:62342591delG	ENST00000476907.1	-	9	3291	c.2600delC	c.(2599-2601)cctfs	p.P867fs	TUT1_ENST00000308436.7_Frame_Shift_Del_p.P905fs|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	867					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AATTGCTTGAGGGAGGAAAAC	0.507																																																	0								ENSG00000149016						53	55	54					11																	62342591		2202	4299	6501	TUT1	SO:0001589	frameshift_variant	0				HGNC	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2600delC	11.37:g.62342591delG	ENSP00000419607:p.Pro867fs	Somatic	0	67	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Frame_Shift_Del	DEL							pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P905fs	ENST00000476907.1	37	c.2714		11																																																																																			-	NULL		0.507	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	protein_coding	OTTHUMT00000351319.2	G	NM_022830			62342591	-1	no_errors	ENST00000308436	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	62342591	G	-	62342591	7	5	131	1	0	1	0	1	0	0	0	0	16787	1000	35	0	28	0	TUT1	11	62342591	Frame_Shift_Del	DEL	G	TCGA-DX-AB37-01A-11D-A417-09	29387006	62342591	72663925	37	10013											
HTR3B	9177	genome.wustl.edu	37	chr11	113780025	113780025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttattttccaggaattctaGccacagatacacatcatccc	4	12	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr11:113780025G>T	ENST00000260191.2	+	2	318	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	HTR3B_ENST00000537778.1_Missense_Mutation_p.A10S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	21					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AGGAATTCTAGCCACAGATAC	0.403																																																	0								ENSG00000149305						104	101	102					11																	113780025		2201	4296	6497	HTR3B	SO:0001583	missense	0			-	HGNC	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.61G>T	11.37:g.113780025G>T	ENSP00000260191:p.Ala21Ser	Somatic	0	56	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B0YJ23|Q0VJC3	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.A21S	ENST00000260191.2	37	c.61	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690187	0.29962	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.80393	-1.37;-1.33	5.53	4.42	0.53409	.	1.533960	0.04128	N	0.317461	T	0.71367	0.3331	N	0.14661	0.345	0.09310	N	1	B;B	0.21071	0.051;0.044	B;B	0.26614	0.071;0.024	T	0.54377	-0.8303	10	0.25106	T	0.35	-6.6033	12.5073	0.55987	0.0952:0.0:0.9048:0.0	.	10;21	O95264-2;O95264	.;5HT3B_HUMAN	S	21;10	ENSP00000260191:A21S;ENSP00000443118:A10S	ENSP00000260191:A21S	A	+	1	0	HTR3B	113285235	0.016000	0.18221	0.035000	0.18076	0.070000	0.16714	1.845000	0.39279	2.586000	0.87340	0.655000	0.94253	GCC	-	prints_5HT3_rcpt_B,tigrfam_Neur_channel		0.403	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	protein_coding	OTTHUMT00000398842.1	G	NM_006028	-		113780025	1	no_errors	ENST00000260191	ensembl	human	known	74_37	missense	SNP	0.007	T	T	113780025	G	T	113780025	3	4	131	1	0	0	0	0	1	0	0	0	7447	971	34	3	67	3	HTR3B	11	113780025	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	51437434	113780025	21226491	38	10014											
CD163L1	283316	genome.wustl.edu	37	chr12	7559146	7559146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagcagatcacagacaCatcgttttgatgaagacagt	9	9	1	6			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr12:7559146C>T	ENST00000313599.3	-	5	1126	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CD163L1_ENST00000396630.1_Missense_Mutation_p.V357M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V367M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	357	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATCACAGACACATCGTTTTGA	0.408																																																	0								ENSG00000177675						79	72	75					12																	7559146		2203	4300	6503	CD163L1	SO:0001583	missense	0			-	HGNC	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1069G>A	12.37:g.7559146C>T	ENSP00000315945:p.Val357Met	Somatic	0	63	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.V357M	ENST00000313599.3	37	c.1069	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509254	0.64522	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39787	1.06;1.06;1.06	1.75	1.75	0.24633	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.60327	0.2260	M	0.83312	2.635	0.28937	N	0.891218	D;D	0.65815	0.995;0.995	P;P	0.60789	0.879;0.879	T	0.55321	-0.8159	9	0.87932	D	0	.	9.4486	0.38712	0.0:1.0:0.0:0.0	.	367;357	E7EVK4;Q9NR16	.;C163B_HUMAN	M	357;367;357	ENSP00000315945:V357M;ENSP00000393474:V367M;ENSP00000379871:V357M	ENSP00000315945:V357M	V	-	1	0	CD163L1	7450413	0.742000	0.28228	0.014000	0.15608	0.581000	0.36288	3.225000	0.51246	1.263000	0.44181	0.305000	0.20034	GTG	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	C	NM_174941	-		7559146	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	SNP	0.960	T	T	7559146	C	T	7559146	3	4	131	1	0	0	0	0	1	0	0	0	2970	478	17	2	3352	2	CD163L1	12	7559146	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09		7559146	126292749	39	10015											
CAPRIN2	65981	genome.wustl.edu	37	chr12	30884415	30884415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagcctgagttcagcaAtttagacagtagatccttca	7	8	2	3			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr12:30884415A>C	ENST00000395805.2	-	6	1469	c.922T>G	c.(922-924)Ttg>Gtg	p.L308V	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.L308V|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.L308V|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.L308V	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)					GAGTTCAGCAATTTAGACAGT	0.348																																																	0								ENSG00000110888						110	106	107					12																	30884415		2203	4300	6503	CAPRIN2	SO:0001583	missense	0			-	HGNC	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.922T>G	12.37:g.30884415A>C	ENSP00000379150:p.Leu308Val	Somatic	0	60	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64		Missense_Mutation	SNP							pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.L308V	ENST00000395805.2	37	c.922	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844267	0.51164	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.22134	2.15;1.97;1.97;1.97;1.97;1.97	5.43	1.7	0.24286	.	0.074415	0.51477	D	0.000084	T	0.23649	0.0572	N	0.20530	0.585	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.99;0.997;0.997	D;D;P;D;D	0.79108	0.95;0.992;0.908;0.969;0.954	T	0.03673	-1.1014	10	0.26408	T	0.33	-6.1537	7.0163	0.24890	0.5972:0.0:0.4028:0.0	.	308;308;308;308;308	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	V	54;308;308;308;308;34;227	ENSP00000415407:L54V;ENSP00000298892:L308V;ENSP00000379150:L308V;ENSP00000251071:L308V;ENSP00000391479:L308V;ENSP00000438010:L227V	ENSP00000251071:L308V	L	-	1	2	CAPRIN2	30775682	0.843000	0.29541	0.999000	0.59377	0.995000	0.86356	0.564000	0.23563	0.349000	0.23975	0.528000	0.53228	TTG	-	NULL		0.348	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	protein_coding	OTTHUMT00000403322.2	A	NM_023925	-		30884415	-1	no_errors	ENST00000251071	ensembl	human	known	74_37	missense	SNP	0.998	C	C	30884415	A	C	30884415	3	2	131	1	0	0	0	0	1	0	0	0	2638	98	4	5	2513	5	CAPRIN2	12	30884415	Missense_Mutation	SNP	A	TCGA-DX-AB37-01A-11D-A417-09	23325269	30884415	102967480	40	10016											
WIF1	11197	genome.wustl.edu	37	chr12	65448915	65448915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacttttattgcagtgtcttCcatgccaaccttcttgacat	5	12	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr12:65448915C>A	ENST00000286574.4	-	9	1375	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	334	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCAGTGTCTTCCATGCCAACC	0.413			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0								ENSG00000156076						95	88	90					12																	65448915		2203	4300	6503	WIF1	SO:0001583	missense	0			-	HGNC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.1001G>T	12.37:g.65448915C>A	ENSP00000286574:p.Gly334Val	Somatic	0	38	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q6UXI1|Q8WVG4	Missense_Mutation	SNP							pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.G334V	ENST00000286574.4	37	c.1001	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404493	0.83230	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	D;D	0.99984	-11.61;-1.98	5.71	5.71	0.89125	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99975	1.2154	9	.	.	.	.	20.2344	0.98354	0.0:1.0:0.0:0.0	.	334	Q9Y5W5	WIF1_HUMAN	V	334;83	ENSP00000286574:G334V;ENSP00000439024:G83V	.	G	-	2	0	WIF1	63735182	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.420000	0.73349	2.854000	0.98071	0.655000	0.94253	GGA	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.413	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	C		-		65448915	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65448915	C	A	65448915	3	1	131	1	0	0	0	0	1	0	0	0	17373	855	30	3	146	3	WIF1	12	65448915	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	34564500	65448915	68402980	41	10017											
SCARB1	949	genome.wustl.edu	37	chr12	125270910	125270910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcacctacttggctcCggatttggcagatgacaggg	14	11	0	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr12:125270910C>A	ENST00000415380.2	-	11	1519	c.1394G>T	c.(1393-1395)cGg>cTg	p.R465L	SCARB1_ENST00000339570.5_Missense_Mutation_p.R465L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Missense_Mutation_p.R465L|SCARB1_ENST00000376788.1_Missense_Mutation_p.R365L|SCARB1_ENST00000540495.1_Missense_Mutation_p.R428L|SCARB1_ENST00000541205.1_Missense_Mutation_p.R424L|SCARB1_ENST00000544327.1_Missense_Mutation_p.R411L|SCARB1_ENST00000546215.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	465					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)			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)	TACTTGGCTCCGGATTTGGCA	0.637																																																	0								ENSG00000073060						114	108	110					12																	125270910		2203	4300	6503	SCARB1	SO:0001583	missense	0			-	HGNC	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.1394G>T	12.37:g.125270910C>A	ENSP00000414979:p.Arg465Leu	Somatic	0	24	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP							pfam_CD36,prints_CD36,prints_CD36_antigen	p.R465L	ENST00000415380.2	37	c.1394		12	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808706	0.50421	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.35	2.42	0.29668	.	0.737082	0.12733	N	0.443673	T	0.79650	0.4482	M	0.85373	2.75	0.45378	D	0.998366	D;D;D;P;P	0.58970	0.984;0.984;0.984;0.829;0.804	P;P;P;B;B	0.57846	0.828;0.828;0.828;0.287;0.203	T	0.76666	-0.2875	10	0.72032	D	0.01	-30.7525	4.5196	0.11952	0.1583:0.5952:0.0:0.2465	.	424;465;465;465;465	B3KW46;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;SCRB1_HUMAN;.;.	L	465;465;465;365;424;411;428	ENSP00000343795:R465L;ENSP00000414979:R465L;ENSP00000261693:R465L;ENSP00000365984:R365L;ENSP00000446107:R424L;ENSP00000444851:R411L;ENSP00000443286:R428L	ENSP00000261693:R465L	R	-	2	0	SCARB1	123836863	0.901000	0.30685	0.896000	0.35187	0.148000	0.21650	0.359000	0.20233	0.604000	0.29930	0.555000	0.69702	CGG	-	pfam_CD36		0.637	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	protein_coding	OTTHUMT00000400165.1	C	NM_005505	-		125270910	-1	no_errors	ENST00000415380	ensembl	human	known	74_37	missense	SNP	0.958	A	A	125270910	C	A	125270910	3	1	131	1	0	0	0	0	1	0	0	0	13889	652	23	3	267	3	SCARB1	12	125270910	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	59821995	125270910	8580985	42	10018											
STK24	8428	genome.wustl.edu	37	chr13	99171640	99171655	+	Frame_Shift_Del	DEL	TGTCAATGCCTTTGAA	TGTCAATGCCTTTGAA	-													aaccactttctgagtccgatTgtcaatgcctttgaacacct							TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	TGTCAATGCCTTTGAA	TGTCAATGCCTTTGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr13:99171640_99171655delTGTCAATGCCTTTGAA	ENST00000376547.3	-	2	296_311	c.151_166delTTCAAAGGCATTGACA	c.(151-168)ttcaaaggcattgacaatfs	p.FKGIDN51fs	STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Frame_Shift_Del_p.FKGIDN39fs|STK24_ENST00000397517.2_Frame_Shift_Del_p.FKGIDN39fs	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAGTCCGATTGTCAATGCCTTTGAACACCTCTCCA	0.426																																																	0								ENSG00000102572																																			STK24	SO:0001589	frameshift_variant	0				HGNC	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.151_166delTTCAAAGGCATTGACA	13.37:g.99171640_99171655delTGTCAATGCCTTTGAA	ENSP00000365730:p.Phe51fs	Somatic					0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O14840|Q5JV92	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F51fs	ENST00000376547.3	37	c.166_151	CCDS9488.1	13																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.426	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STK24	protein_coding	OTTHUMT00000045549.2	TGTCAATGCCTTTGAA	NM_003576			99171655	-1	no_errors	ENST00000376547	ensembl	human	known	74_37	frame_shift_del	DEL	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	-	-	99171655	TGTCAATGCCTTTGAA	-	99171640	7	5	131	1	0	1	0	1	0	0	0	0	15300	1812	63	0	1205	0	STK24	13	99171640	Frame_Shift_Del	DEL	TGTCAATGCCTTTGAA	TCGA-DX-AB37-01A-11D-A417-09		99171640	15998238	43	10019											
C13orf39	196541	genome.wustl.edu	37	chr13	103343313	103343313	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggttctatcttgttggaTtctgtgaagcagaaaaataa	10	4	3	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr13:103343313T>A	ENST00000267273.6	-	2	137	c.132A>T	c.(130-132)gaA>gaT	p.E44D		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	44					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TCTTGTTGGATTCTGTGAAGC	0.393																																																	0								ENSG00000139780						116	113	114					13																	103343313		2203	4300	6503	METTL21C	SO:0001630	splice_region_variant	0			-	HGNC		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.131-1A>T	13.37:g.103343313T>A		Somatic	0	47	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00		Missense_Mutation	SNP							pfam_Nicotinamide_N-MeTfrase-like	p.E44D	ENST00000267273.6	37	c.132	CCDS32003.1	13	.	.	.	.	.	.	.	.	.	.	T	3.818	-0.038417	0.07497	.	.	ENSG00000139780	ENST00000267273	T	0.13538	2.58	6.16	-3.97	0.04094	.	0.880378	0.09779	N	0.756952	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43261	-0.9402	10	0.13108	T	0.6	.	2.9461	0.05846	0.3162:0.219:0.3604:0.1044	.	44	Q5VZV1	MT21C_HUMAN	D	44	ENSP00000267273:E44D	ENSP00000267273:E44D	E	-	3	2	METTL21C	102141314	0.002000	0.14202	0.002000	0.10522	0.047000	0.14425	-0.232000	0.09055	-0.595000	0.05828	-0.309000	0.09137	GAA	-	NULL		0.393	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21C	protein_coding	OTTHUMT00000045682.2	T	NM_001010977	-	Missense_Mutation	103343313	-1	no_errors	ENST00000267273	ensembl	human	known	74_37	missense	SNP	0.001	A	A	103343313	T	A	103343313	5	1	131	1	0	0	0	0	0	0	1	0	1734	1507	52	5	674	5	C13orf39	13	103343313	Splice_Site	SNP	T	TCGA-DX-AB37-01A-11D-A417-09	4171673	103343313	11826565	44	10020											
ERCC5	2073	genome.wustl.edu	37	chr13	103498672	103498672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggcggcaggtcagccCcgaagcgctggaagggaaga	17	12	1	1	rs34291397	byFrequency	TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr13:103498672C>G	ENST00000355739.4	+	1	1479	c.56C>G	c.(55-57)cCc>cGc	p.P19R	ERCC5_ENST00000535557.1_Missense_Mutation_p.P19R|BIVM-ERCC5_ENST00000602836.1_Intron	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	19	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGGTCAGCCCCGAAGCGCTG	0.647			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0								ENSG00000134899						43	44	44					13																	103498672		2203	4300	6503	ERCC5	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	-	HGNC	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.56C>G	13.37:g.103498672C>G	ENSP00000347978:p.Pro19Arg	Somatic	0	243	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	166	27.83	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP							pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes	p.P19R	ENST00000355739.4	37	c.56	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795876	0.70452	.	.	ENSG00000134899	ENST00000355739;ENST00000535557	T;T	0.64618	-0.11;-0.11	5.18	5.18	0.71444	XPG N-terminal (2);	0.161268	0.56097	D	0.000029	T	0.81059	0.4744	.	.	.	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	D;D	0.85130	0.975;0.997	T	0.82942	-0.0207	9	0.66056	D	0.02	-9.4083	18.8927	0.92412	0.0:1.0:0.0:0.0	.	19;19	B4DSI5;P28715	.;ERCC5_HUMAN	R	19	ENSP00000347978:P19R;ENSP00000442117:P19R	ENSP00000347978:P19R	P	+	2	0	ERCC5	102296673	1.000000	0.71417	0.996000	0.52242	0.597000	0.36814	7.195000	0.77798	2.687000	0.91594	0.655000	0.94253	CCC	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPG/Rad2_eukaryotes,tigrfam_XPG/Rad2_eukaryotes		0.647	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	protein_coding	OTTHUMT00000045708.1	C		-		103498672	1	no_errors	ENST00000355739	ensembl	human	known	74_37	missense	SNP	1.000	G	G	103498672	C	G	103498672	3	3	131	1	0	0	0	0	1	0	0	0	5218	623	22	4	58	4	ERCC5	13	103498672	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	155359	103498672	11671206	45	10021											
OR4K14	122740	genome.wustl.edu	37	chr14	20482732	20482732	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaacagctcaaggaAagcaacccactgtctgagat	9	10	2	2	rs141271240	byFrequency	TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr14:20482732A>T	ENST00000305045.2	-	1	620	c.621T>A	c.(619-621)ctT>ctA	p.L207L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTCAAGGAAAGCAACCCAC	0.502																																																	0								ENSG00000169484						88	81	83					14																	20482732		2203	4300	6503	OR4K14	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.621T>A	14.37:g.20482732A>T		Somatic	0	64	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	Q6IEU1|Q96R71	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L207	ENST00000305045.2	37	c.621	CCDS32027.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	protein_coding	OTTHUMT00000410343.1	A		-		20482732	-1	no_errors	ENST00000305045	ensembl	human	known	74_37	silent	SNP	0.001	T	T	20482732	A	T	20482732	2	4	131	1	0	0	0	0	0	0	0	1	11071	1	1	5		5	OR4K14	14	20482732	Silent	SNP	A	TCGA-DX-AB37-01A-11D-A417-09		20482732	86866808	46	10022											
PPP2R5C	5527	genome.wustl.edu	37	chr14	102368201	102368201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccggcagttggccaAatgtgtctccagcccacact	8	16	2	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr14:102368201A>C	ENST00000334743.5	+	9	1046	c.998A>C	c.(997-999)aAa>aCa	p.K333T	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.K364T|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.K333T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.K388T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.K333T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.K333T	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	333					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTTGGCCAAATGTGTCTCC	0.433																																																	0								ENSG00000078304						61	65	64					14																	102368201		2203	4300	6503	PPP2R5C	SO:0001583	missense	0			-	HGNC	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.998A>C	14.37:g.102368201A>C	ENSP00000333905:p.Lys333Thr	Somatic	0	67	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	56	30.86	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP							pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.K364T	ENST00000334743.5	37	c.1091	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820161	0.71028	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.51325	0.73;0.71;0.73;0.73;0.74	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.83384	2.64	0.80722	D	1	P;B;P;P;B;B	0.45176	0.822;0.025;0.815;0.852;0.103;0.172	P;B;P;P;B;B	0.51266	0.492;0.115;0.664;0.626;0.218;0.425	T	0.70923	-0.4740	10	0.87932	D	0	-16.2922	15.2481	0.73521	1.0:0.0:0.0:0.0	.	364;231;333;333;333;388	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	T	364;388;362;333;231;333;333;333;129	ENSP00000412324:K364T;ENSP00000329009:K388T;ENSP00000450931:K362T;ENSP00000262239:K333T;ENSP00000333905:K333T	ENSP00000329009:K388T	K	+	2	0	PPP2R5C	101437954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.413000	0.80104	2.015000	0.59207	0.533000	0.62120	AAA	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.433	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	protein_coding	OTTHUMT00000414373.2	A	NM_002719	-		102368201	1	no_errors	ENST00000422945	ensembl	human	known	74_37	missense	SNP	1.000	C	C	102368201	A	C	102368201	3	2	131	1	0	0	0	0	1	0	0	0	12399	14	1	5	1401	5	PPP2R5C	14	102368201	Missense_Mutation	SNP	A	TCGA-DX-AB37-01A-11D-A417-09	81885469	102368201	4981339	47	10023											
TJP1	7082	genome.wustl.edu	37	chr15	30033627	30033627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcccaacttgggcataCacaggctttggttctaagaa	11	9	1	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr15:30033627C>T	ENST00000346128.6	-	10	1638	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	TJP1_ENST00000545208.2_Silent_p.V388V|TJP1_ENST00000356107.6_Silent_p.V388V|TJP1_ENST00000400011.2_Silent_p.V392V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	388					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)		CTTGGGCATACACAGGCTTTG	0.373																																					Melanoma(77;681 1843 6309 6570)												0								ENSG00000104067						58	58	58					15																	30033627		1828	4077	5905	TJP1	SO:0001819	synonymous_variant	0			-	HGNC		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.1164G>A	15.37:g.30033627C>T		Somatic	0	49	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP							pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.V388	ENST00000346128.6	37	c.1164	CCDS42007.1	15																																																																																			-	prints_ZonOcculS1		0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	protein_coding	OTTHUMT00000268237.3	C	NM_003257	-		30033627	-1	no_errors	ENST00000346128	ensembl	human	known	74_37	silent	SNP	0.980	T	T	30033627	C	T	30033627	2	4	131	1	0	0	0	0	0	0	0	1	15936	465	17	2		2	TJP1	15	30033627	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09		30033627	72497765	48	10024											
TGM5	9333	genome.wustl.edu	37	chr15	43531082	43531082	+	Frame_Shift_Del	DEL	A	A	-													tggatgctctttgtgctgatAaaattgccaacagaactcgt							TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr15:43531082delA	ENST00000220420.5	-	9	1285	c.1278delT	c.(1276-1278)tttfs	p.F426fs	TGM5_ENST00000349114.4_Frame_Shift_Del_p.F344fs	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	426					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)	TTGTGCTGATAAAATTGCCAA	0.507																																																	0								ENSG00000104055						190	153	165					15																	43531082		2202	4299	6501	TGM5	SO:0001589	frameshift_variant	0				HGNC	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.1278delT	15.37:g.43531082delA	ENSP00000220420:p.Phe426fs	Somatic	0	22	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	O43549|Q0VF40|Q9UEZ4	Frame_Shift_Del	DEL							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F426fs	ENST00000220420.5	37	c.1278	CCDS32212.1	15																																																																																			-	NULL		0.507	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	protein_coding	OTTHUMT00000432257.1	A	NM_004245			43531082	-1	no_errors	ENST00000220420	ensembl	human	known	74_37	frame_shift_del	DEL	0.003	-	-	43531082	A	-	43531082	7	5	131	1	0	1	0	1	0	0	0	0	15840	359	13	0	904	0	TGM5	15	43531082	Frame_Shift_Del	DEL	A	TCGA-DX-AB37-01A-11D-A417-09	13497455	43531082	59000310	49	10025											
CEP152	22995	genome.wustl.edu	37	chr15	49074367	49074367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatgtttgcactcataGcatgtgccttctgtgcttgc	9	10	3	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr15:49074367G>A	ENST00000380950.2	-	11	1569	c.1382C>T	c.(1381-1383)gCt>gTt	p.A461V	CEP152_ENST00000399334.3_Missense_Mutation_p.A461V|CEP152_ENST00000325747.5_Missense_Mutation_p.A368V|RP11-485O10.2_ENST00000558304.1_RNA	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	461					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCACTCATAGCATGTGCCTT	0.443																																																	0								ENSG00000103995						96	94	95					15																	49074367		2001	4189	6190	CEP152	SO:0001583	missense	0			-	HGNC	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1382C>T	15.37:g.49074367G>A	ENSP00000370337:p.Ala461Val	Somatic	0	36	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP							NULL	p.A461V	ENST00000380950.2	37	c.1382	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612305	0.28712	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.21543	2.0;2.0;2.0	5.82	3.91	0.45181	.	0.707928	0.14463	N	0.318063	T	0.09730	0.0239	N	0.17474	0.49	0.09310	N	1	B;B;B	0.20052	0.001;0.041;0.001	B;B;B	0.12156	0.003;0.007;0.003	T	0.38607	-0.9653	10	0.08837	T	0.75	2.3231	3.7673	0.08627	0.2791:0.0:0.5488:0.1721	.	368;461;461	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	461;368;461;461	ENSP00000370337:A461V;ENSP00000321000:A368V;ENSP00000382271:A461V	ENSP00000321000:A368V	A	-	2	0	CEP152	46861659	0.000000	0.05858	0.001000	0.08648	0.884000	0.51177	0.358000	0.20216	0.750000	0.32877	0.655000	0.94253	GCT	-	NULL		0.443	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	protein_coding	OTTHUMT00000417365.1	G	NM_014985	-		49074367	-1	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	SNP	0.001	A	A	49074367	G	A	49074367	3	1	131	1	0	0	0	0	1	0	0	0	3250	971	34	2	3646	2	CEP152	15	49074367	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	5543285	49074367	53457025	50	10026											
GTF3C1	2975	genome.wustl.edu	37	chr16	27512569	27512569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaatcgcaagagaccttcCtcagacaggttccgcaccaa	7	14	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr16:27512569C>T	ENST00000356183.4	-	12	2019	c.2004G>A	c.(2002-2004)gaG>gaA	p.E668E	GTF3C1_ENST00000561623.1_Silent_p.E668E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	668					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGAGACCTTCCTCAGACAGGT	0.547																																																	0								ENSG00000077235						157	127	137					16																	27512569		2197	4300	6497	GTF3C1	SO:0001819	synonymous_variant	0			-	HGNC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2004G>A	16.37:g.27512569C>T		Somatic	0	36	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP							pfam_TFIIIC_Bblock-bd	p.E668	ENST00000356183.4	37	c.2004	CCDS32414.1	16																																																																																			-	NULL		0.547	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	C	NM_001520	-		27512569	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	silent	SNP	1.000	T	T	27512569	C	T	27512569	2	4	131	1	0	0	0	0	0	0	0	1	6874	680	24	2		2	GTF3C1	16	27512569	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09		27512569	62842184	51	10027											
NUDT21	11051	genome.wustl.edu	37	chr16	56480573	56480573	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttagtccttcaacttcatCttctcctgggttaagttcac	5	11	5	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr16:56480573C>T	ENST00000300291.5	-	3	518	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	116	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TCAACTTCATCTTCTCCTGGG	0.318																																																	0								ENSG00000167005						131	126	128					16																	56480573		2198	4300	6498	NUDT21	SO:0001583	missense	0			-	HGNC	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"Nudix motif containing"	13870	protein-coding gene	gene with protein product	"cleavage factor Im complex 25 kDa subunit"	604978	"cleavage and polyadenylation specific factor 5, 25 kDa", "cleavage and polyadenylation specific factor 5, 25 kD subunit"	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.346G>A	16.37:g.56480573C>T	ENSP00000300291:p.Asp116Asn	Somatic	0	129	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	142	22.83	Q6IB85|Q6NE84	Missense_Mutation	SNP							superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5	p.D116N	ENST00000300291.5	37	c.346	CCDS10760.1	16	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734947	0.69189	.	.	ENSG00000167005	ENST00000300291	T	0.15372	2.43	5.81	5.81	0.92471	NUDIX hydrolase domain (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.58925	1.835	0.80722	D	1	B	0.27013	0.166	B	0.33454	0.164	T	0.02917	-1.1094	10	0.23302	T	0.38	-10.2873	20.0763	0.97746	0.0:1.0:0.0:0.0	.	116	O43809	CPSF5_HUMAN	N	116	ENSP00000300291:D116N	ENSP00000300291:D116N	D	-	1	0	NUDT21	55038074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.756000	0.94617	0.655000	0.94253	GAT	-	superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5		0.318	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT21	protein_coding	OTTHUMT00000256980.3	C	NM_007006	-		56480573	-1	no_errors	ENST00000300291	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56480573	C	T	56480573	3	4	131	1	0	0	0	0	1	0	0	0	10740	913	32	2	357	2	NUDT21	16	56480573	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	28968004	56480573	33874180	52	10028											
NOB1	28987	genome.wustl.edu	37	chr16	69782853	69782853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtggtcaggcagccaaCccgcacgtcctcggggacgt	14	14	2	0	rs543289898		TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr16:69782853C>T	ENST00000268802.5	-	6	723	c.694G>A	c.(694-696)Gtt>Att	p.V232I		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	232					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGCAGCCAACCCGCACGTCC	0.617													C|||	1	0.000199681	0	0	5008	,	,		18814	0.001		0	False		,,,				2504	0																0								ENSG00000141101																																			NOB1	SO:0001583	missense	0			-	HGNC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.694G>A	16.37:g.69782853C>T	ENSP00000268802:p.Val232Ile	Somatic	0	24	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Splice_Site	SNP							-	e3+1	ENST00000268802.5	37	c.201+1	CCDS10884.1	16	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259792	0.59321	.	.	ENSG00000141101	ENST00000268802	T	0.43294	0.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.67197	-0.5731	9	.	.	.	.	18.9662	0.92697	0.0:1.0:0.0:0.0	.	232	Q9ULX3	NOB1_HUMAN	I	232	ENSP00000268802:V232I	.	V	-	1	0	NOB1	68340354	1.000000	0.71417	0.995000	0.50966	0.365000	0.29674	7.466000	0.80914	2.647000	0.89833	0.585000	0.79938	GTT	-	-		0.617	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	protein_coding	OTTHUMT00000268958.2	C	NM_014062	-		69782853	-1	no_errors	ENST00000569871	ensembl	human	known	74_37	splice_site	SNP	0.997	T	T	69782853	C	T	69782853	3	4	131	1	0	0	0	0	1	0	0	0	10513	507	18	2	560	2	NOB1	16	69782853	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	13302280	69782853	20571900	53	10029			1	78		3	3	619	C		8.922691e-07
NOB1	28987	genome.wustl.edu	37	chr16	69782876	69782876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtcctcggggacgtcaCactgctccagctcctgctgg	12	16	1	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr16:69782876C>T	ENST00000268802.5	-	6	700	c.671G>A	c.(670-672)tGt>tAt	p.C224Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	224					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGACGTCACACTGCTCCAG	0.597																																																	0								ENSG00000141101						90	65	74					16																	69782876		2198	4300	6498	NOB1	SO:0001583	missense	0			-	HGNC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.671G>A	16.37:g.69782876C>T	ENSP00000268802:p.Cys224Tyr	Somatic	0	26	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP							pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease	p.C224Y	ENST00000268802.5	37	c.671	CCDS10884.1	16	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.317369	0.01331	.	.	ENSG00000141101	ENST00000268802	T	0.29142	1.58	5.33	3.34	0.38264	.	0.279681	0.43579	N	0.000544	T	0.12987	0.0315	N	0.03608	-0.345	0.27335	N	0.95667	B	0.02656	0.0	B	0.04013	0.001	T	0.18116	-1.0347	9	.	.	.	.	12.1277	0.53926	0.0:0.8512:0.0:0.1488	.	224	Q9ULX3	NOB1_HUMAN	Y	224	ENSP00000268802:C224Y	.	C	-	2	0	NOB1	68340377	0.488000	0.25996	0.612000	0.29024	0.091000	0.18340	1.871000	0.39539	1.378000	0.46305	0.585000	0.79938	TGT	-	pirsf_D-site_20S_pre-rRNA_nuclease		0.597	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	protein_coding	OTTHUMT00000268958.2	C	NM_014062	-		69782876	-1	no_errors	ENST00000268802	ensembl	human	known	74_37	missense	SNP	0.399	T	T	69782876	C	T	69782876	3	4	131	1	0	0	0	0	1	0	0	0	10513	478	17	2	583	2	NOB1	16	69782876	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	23	69782876	20571877	54	10030			1	78		3	3	619	C		8.922691e-07
NOB1	28987	genome.wustl.edu	37	chr16	69783471	69783471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaaattaccttgtagggCagatggaaaccagaaatgtg	11	5	0	3			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr16:69783471C>T	ENST00000268802.5	-	4	419	c.390G>A	c.(388-390)ctG>ctA	p.L130L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	130					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTTGTAGGGCAGATGGAAAC	0.388																																																	0								ENSG00000141101						96	88	91					16																	69783471		2198	4300	6498	NOB1	SO:0001819	synonymous_variant	0			-	HGNC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.390G>A	16.37:g.69783471C>T		Somatic	0	89	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	108	26.53	Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP							pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease	p.L130	ENST00000268802.5	37	c.390	CCDS10884.1	16																																																																																			-	pirsf_D-site_20S_pre-rRNA_nuclease		0.388	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	protein_coding	OTTHUMT00000268958.2	C	NM_014062	-		69783471	-1	no_errors	ENST00000268802	ensembl	human	known	74_37	silent	SNP	0.997	T	T	69783471	C	T	69783471	2	4	131	1	0	0	0	0	0	0	0	1	10513	697	25	2		2	NOB1	16	69783471	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	595	69783471	20571282	55	10031			1	78		3	3	619	C		8.922691e-07
HSD17B2	3294	genome.wustl.edu	37	chr16	82131683	82131683	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctttcaccccagataTcgcaggcaccagtgacaagt	7	14	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr16:82131683T>A	ENST00000199936.4	+	5	999	c.806T>A	c.(805-807)aTc>aAc	p.I269N	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	269					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						ACCCCAGATATCGCAGGCACC	0.547																																																	0								ENSG00000086696						72	61	65					16																	82131683		2201	4300	6501	HSD17B2	SO:0001583	missense	0			-	HGNC		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.806T>A	16.37:g.82131683T>A	ENSP00000199936:p.Ile269Asn	Somatic	0	33	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40	B2R7T4	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I269N	ENST00000199936.4	37	c.806	CCDS10936.1	16	.	.	.	.	.	.	.	.	.	.	t	15.64	2.894165	0.52121	.	.	ENSG00000086696	ENST00000199936	T	0.44881	0.91	5.44	5.44	0.79542	NAD(P)-binding domain (1);	0.062472	0.64402	D	0.000009	T	0.58481	0.2125	M	0.82716	2.605	0.09310	N	0.999996	D	0.54047	0.964	P	0.53912	0.737	T	0.58645	-0.7600	10	0.48119	T	0.1	.	12.1715	0.54161	0.0:0.0:0.0:1.0	.	269	P37059	DHB2_HUMAN	N	269	ENSP00000199936:I269N	ENSP00000199936:I269N	I	+	2	0	HSD17B2	80689184	0.893000	0.30496	0.010000	0.14722	0.028000	0.11728	5.184000	0.65070	2.193000	0.70182	0.460000	0.39030	ATC	-	prints_Glc/ribitol_DH		0.547	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B2	protein_coding	OTTHUMT00000269057.2	T	NM_002153	-		82131683	1	no_errors	ENST00000199936	ensembl	human	known	74_37	missense	SNP	0.026	A	A	82131683	T	A	82131683	3	1	131	1	0	0	0	0	1	0	0	0	7386	1435	50	5	824	5	HSD17B2	16	82131683	Missense_Mutation	SNP	T	TCGA-DX-AB37-01A-11D-A417-09	12348212	82131683	8223070	56	10032											
AKAP10	11216	genome.wustl.edu	37	chr17	19866275	19866275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacatgacttggtcctGcagcctccagcaaggcatga	10	12	0	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr17:19866275G>C	ENST00000225737.6	-	3	354	c.197C>G	c.(196-198)gCa>gGa	p.A66G	AKAP10_ENST00000395536.3_Missense_Mutation_p.A66G|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	66					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ACTTGGTCCTGCAGCCTCCAG	0.403																																																	0								ENSG00000108599						136	130	132					17																	19866275		2203	4300	6503	AKAP10	SO:0001583	missense	0			-	HGNC	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.197C>G	17.37:g.19866275G>C	ENSP00000225737:p.Ala66Gly	Somatic	0	81	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	91	22.88	B2R650|Q96AJ7	Missense_Mutation	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.A66G	ENST00000225737.6	37	c.197	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192081	0.38707	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.44482	0.92	5.76	5.76	0.90799	.	0.045923	0.85682	D	0.000000	T	0.63367	0.2505	L	0.56769	1.78	0.46317	D	0.99898	D;D;D	0.76494	0.991;0.999;0.999	P;D;D	0.78314	0.73;0.991;0.991	T	0.63985	-0.6513	10	0.87932	D	0	-9.6199	18.9462	0.92623	0.0:0.0:1.0:0.0	.	66;66;66	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	G	66	ENSP00000225737:A66G	ENSP00000225737:A66G	A	-	2	0	AKAP10	19806867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.181000	0.94874	2.721000	0.93114	0.591000	0.81541	GCA	-	NULL		0.403	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	protein_coding	OTTHUMT00000132380.2	G	NM_007202	-		19866275	-1	no_errors	ENST00000225737	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19866275	G	C	19866275	3	2	131	1	0	0	0	0	1	0	0	0	446	1319	46	4	1843	4	AKAP10	17	19866275	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09		19866275	61328935	57	10033											
VTN	7448	genome.wustl.edu	37	chr17	26696816	26696816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgtttttctcctcgcCatcgtcatagaccgtgtact	8	12	2	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr17:26696816C>T	ENST00000226218.4	-	3	859	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	VTN_ENST00000438614.1_5'Flank|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000457710.3_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	81					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TTCTCCTCGCCATCGTCATAG	0.587																																																	0								ENSG00000109072						65	64	65					17																	26696816		2203	4300	6503	VTN	SO:0001583	missense	0			-	HGNC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.241G>A	17.37:g.26696816C>T	ENSP00000226218:p.Gly81Ser	Somatic	0	8	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP							pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G81S	ENST00000226218.4	37	c.241	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	C	5.476	0.272930	0.10349	.	.	ENSG00000255604	ENST00000226218;ENST00000542029	T	0.03689	3.84	4.82	-4.97	0.03029	.	3.178710	0.00945	N	0.002897	T	0.01029	0.0034	N	0.01352	-0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41858	-0.9485	10	0.02654	T	1	9.0515	0.38	0.00393	0.2901:0.243:0.2444:0.2225	.	81	P04004	VTNC_HUMAN	S	81	ENSP00000226218:G81S	ENSP00000226218:G81S	G	-	1	0	AC002094.1	23720943	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.167000	0.09940	-0.495000	0.06659	-0.140000	0.14226	GGC	-	NULL		0.587	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	protein_coding	OTTHUMT00000255680.2	C	NM_000638	-		26696816	-1	no_errors	ENST00000226218	ensembl	human	known	74_37	missense	SNP	0.000	T	T	26696816	C	T	26696816	3	4	131	1	0	0	0	0	1	0	0	0	17244	594	21	2	1219	2	VTN	17	26696816	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	6830541	26696816	54498394	58	10034											
C17orf95	124512	genome.wustl.edu	37	chr17	74725851	74725851	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctttggtttcacagaagatCtctgccaggcaaggccatct	9	12	3	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr17:74725851C>G	ENST00000341249.6	+	2	391	c.59C>G	c.(58-60)tCt>tGt	p.S20C	METTL23_ENST00000586752.1_Intron|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000591571.1_Intron|METTL23_ENST00000586738.1_Missense_Mutation_p.S20C|METTL23_ENST00000588822.1_Intron|METTL23_ENST00000588783.1_Missense_Mutation_p.S20C|METTL23_ENST00000589977.1_Missense_Mutation_p.S20C|METTL23_ENST00000590964.1_Intron|METTL23_ENST00000588302.1_Intron	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	20						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						CACAGAAGATCTCTGCCAGGC	0.448																																																	0								ENSG00000181038						91	84	86					17																	74725851		1909	4131	6040	METTL23	SO:0001583	missense	0			-	HGNC		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"chromosome 17 open reading frame 95"	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.59C>G	17.37:g.74725851C>G	ENSP00000341543:p.Ser20Cys	Somatic	0	76	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	106	10.08	H9ZYJ0|K7EK32	Missense_Mutation	SNP							pfam_Nicotinamide_N-MeTfrase-like	p.S20C	ENST00000341249.6	37	c.59	CCDS45787.1	17	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296129	0.60086	.	.	ENSG00000181038	ENST00000341249	T	0.22743	1.94	5.71	-0.313	0.12754	.	1.119650	0.06496	N	0.735462	T	0.22975	0.0555	L	0.34521	1.04	0.09310	N	0.99999	B	0.31893	0.345	P	0.44897	0.463	T	0.49943	-0.8885	10	0.56958	D	0.05	.	5.0955	0.14731	0.2084:0.2573:0.457:0.0773	.	20	Q86XA0	MET23_HUMAN	C	20	ENSP00000341543:S20C	ENSP00000341543:S20C	S	+	2	0	METTL23	72237446	0.000000	0.05858	0.954000	0.39281	0.997000	0.91878	-0.143000	0.10296	0.303000	0.22785	0.655000	0.94253	TCT	-	pfam_Nicotinamide_N-MeTfrase-like		0.448	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL23	protein_coding	OTTHUMT00000451002.1	C	NM_001080510	-		74725851	1	no_errors	ENST00000341249	ensembl	human	known	74_37	missense	SNP	0.072	G	G	74725851	C	G	74725851	3	3	131	1	0	0	0	0	1	0	0	0	1894	913	32	4	61	4	C17orf95	17	74725851	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	48029035	74725851	6469359	59	10035											
RNF213	57674	genome.wustl.edu	37	chr17	78272139	78272139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctggcggctgtacctggtGaacctgtgccaaagatgcat	13	10	0	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr17:78272139G>A	ENST00000582970.1	+	11	2174	c.2031G>A	c.(2029-2031)gtG>gtA	p.V677V	RNF213_ENST00000508628.2_Silent_p.V726V|RNF213_ENST00000319921.4_Silent_p.V677V|RNF213_ENST00000456466.1_Silent_p.V677V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	677					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)			TGTACCTGGTGAACCTGTGCC	0.612																																																	0								ENSG00000173821						60	46	51					17																	78272139		2203	4300	6503	RNF213	SO:0001819	synonymous_variant	0			-	HGNC	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.2031G>A	17.37:g.78272139G>A		Somatic	0	20	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.V677	ENST00000582970.1	37	c.2031	CCDS58606.1	17																																																																																			-	NULL		0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914	-		78272139	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	SNP	0.000	A	A	78272139	G	A	78272139	2	1	131	1	0	0	0	0	0	0	0	1	13485	1277	45	2		2	RNF213	17	78272139	Silent	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	3546288	78272139	2923071	60	10036											
POTEC	388468	genome.wustl.edu	37	chr18	14538212	14538212	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagttgtactacttcTgaatttccattggcagaggc	11	8	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr18:14538212T>A	ENST00000358970.5	-	2	557	c.558A>T	c.(556-558)tcA>tcT	p.S186S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	186										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTACTACTTCTGAATTTCCAT	0.403																																																	0								ENSG00000183206																																			POTEC	SO:0001819	synonymous_variant	0			-	HGNC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.558A>T	18.37:g.14538212T>A		Somatic	0	29	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	10	54.55		Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S186	ENST00000358970.5	37	c.558	CCDS45835.1	18																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.403	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	protein_coding	OTTHUMT00000371179.1	T	XM_496269	-		14538212	-1	no_errors	ENST00000358970	ensembl	human	known	74_37	silent	SNP	0.863	A	A	14538212	T	A	14538212	2	1	131	1	0	0	0	0	0	0	0	1	12264	1567	55	5		5	POTEC	18	14538212	Silent	SNP	T	TCGA-DX-AB37-01A-11D-A417-09		14538212	63539036	61	10037											
AQP4	361	genome.wustl.edu	37	chr18	24436262	24436262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacatgcaccactccaggTtttagaatcaggtcatccgt	7	12	3	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr18:24436262T>C	ENST00000383168.4	-	5	1013	c.885A>G	c.(883-885)aaA>aaG	p.K295K	AQP4_ENST00000440832.3_Silent_p.K273K|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Silent_p.K273K|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	295					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCACTCCAGGTTTTAGAATCA	0.483																																																	0								ENSG00000171885						359	297	318					18																	24436262		2203	4300	6503	AQP4	SO:0001819	synonymous_variant	0			-	HGNC	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.885A>G	18.37:g.24436262T>C		Somatic	0	55	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	P78564	Silent	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.K295	ENST00000383168.4	37	c.885	CCDS11889.1	18																																																																																			-	NULL		0.483	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	protein_coding	OTTHUMT00000254914.2	T	NM_001650, NM_004028	-		24436262	-1	no_errors	ENST00000383168	ensembl	human	known	74_37	silent	SNP	1.000	C	C	24436262	T	C	24436262	2	2	131	1	0	0	0	0	0	0	0	1	828	1722	60	5		5	AQP4	18	24436262	Silent	SNP	T	TCGA-DX-AB37-01A-11D-A417-09	9898050	24436262	53640986	62	10038											
SYNJ1	8867	genome.wustl.edu	37	chr21	34003353	34003353	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagccttagaggccaaggtCgtgaaaggatctactggagg	15	7	1	2			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chr21:34003353C>T	ENST00000322229.7	-	31	4673	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382491.3_Silent_p.T1511T|SYNJ1_ENST00000433931.2_Silent_p.T1597T			O43426	SYNJ1_HUMAN	synaptojanin 1	1558	Pro-rich.				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						AGGCCAAGGTCGTGAAAGGAT	0.522																																																	0								ENSG00000159082						88	85	86					21																	34003353		2203	4300	6503	SYNJ1	SO:0001819	synonymous_variant	0			-	HGNC	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.4674G>A	21.37:g.34003353C>T		Somatic	0	50	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	O43425|O94984|Q4KMR1	Silent	SNP							pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.T1597	ENST00000322229.7	37	c.4791	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	4.014	0.000066	0.07819	.	.	ENSG00000159082	ENST00000479254;ENST00000490462	.	.	.	5.61	-7.61	0.01299	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.28713	-1.0035	4	.	.	.	.	4.6309	0.12500	0.2019:0.0793:0.4832:0.2356	.	.	.	.	Q	73	.	.	R	-	2	0	SYNJ1	32925224	0.000000	0.05858	0.001000	0.08648	0.756000	0.42949	-1.368000	0.02580	-1.078000	0.03117	-2.382000	0.00231	CGA	-	NULL		0.522	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	protein_coding		C		-		34003353	-1	no_errors	ENST00000433931	ensembl	human	known	74_37	silent	SNP	0.000	T	T	34003353	C	T	34003353	2	4	131	1	0	0	0	0	0	0	0	1	15459	871	31	1		1	SYNJ1	21	34003353	Silent	SNP	C	TCGA-DX-AB37-01A-11D-A417-09		34003353	14126542	63	10039											
GDPD2	54857	genome.wustl.edu	37	chrX	69644894	69644894	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcctccactgcctgtatagCtgccactggaggaaatgccc	10	14	0	0			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chrX:69644894C>G	ENST00000374382.3	+	2	311	c.60C>G	c.(58-60)agC>agG	p.S20R	GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.S20R	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	20					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCCTGTATAGCTGCCACTGGA	0.637																																																	0								ENSG00000130055						22	16	18					X																	69644894		2203	4299	6502	GDPD2	SO:0001583	missense	0			-	HGNC	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.60C>G	X.37:g.69644894C>G	ENSP00000363503:p.Ser20Arg	Somatic	0	70	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	78	25.71	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP							pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S20R	ENST00000374382.3	37	c.60	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186158	0.78789	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.34472	1.36;1.36	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.54529	-0.8280	9	.	.	.	-8.5092	14.4397	0.67306	0.0:1.0:0.0:0.0	.	20;20	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	R	20	ENSP00000414019:S20R;ENSP00000363503:S20R	.	S	+	3	2	GDPD2	69561619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.969000	0.56816	2.426000	0.82243	0.600000	0.82982	AGC	-	NULL		0.637	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	C	NM_017711	-		69644894	1	no_errors	ENST00000453994	ensembl	human	known	74_37	missense	SNP	1.000	G	G	69644894	C	G	69644894	3	3	131	1	0	0	0	0	1	0	0	0	6326	796	28	4	62	4	GDPD2	23	69644894	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09		69644894	85625666	64	10040											
MED12	9968	genome.wustl.edu	37	chrX	70350024	70350024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgctggacaatgaggatgGggaaaacccccagcggcagc	14	11	0	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chrX:70350024G>T	ENST00000374080.3	+	28	4039	c.4007G>T	c.(4006-4008)gGg>gTg	p.G1336V	MED12_ENST00000374102.1_Missense_Mutation_p.G1336V|MED12_ENST00000333646.6_Missense_Mutation_p.G1336V			Q93074	MED12_HUMAN	mediator complex subunit 12	1336					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)					AATGAGGATGGGGAAAACCCC	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0								ENSG00000184634						37	35	36					X																	70350024		1993	4160	6153	MED12	SO:0001583	missense	0			-	HGNC	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.4007G>T	X.37:g.70350024G>T	ENSP00000363193:p.Gly1336Val	Somatic	0	43	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.G1336V	ENST00000374080.3	37	c.4007	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761125	0.69763	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.83506	-1.73;-1.73;-1.73;-1.73;1.31	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.65815	0.995;0.99;0.988;0.991	D;P;D;P	0.63488	0.915;0.841;0.914;0.874	D	0.90009	0.4120	10	0.62326	D	0.03	-13.2922	17.6046	0.88034	0.0:0.0:1.0:0.0	.	1336;1183;1336;1336	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	1336;1336;1336;1336;1304;81	ENSP00000333125:G1336V;ENSP00000363215:G1336V;ENSP00000363193:G1336V;ENSP00000414203:G1304V;ENSP00000408388:G81V	ENSP00000333125:G1336V	G	+	2	0	MED12	70266749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.430000	0.82344	0.544000	0.68410	GGG	-	NULL		0.582	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	G	NM_005120	-		70350024	1	no_errors	ENST00000333646	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70350024	G	T	70350024	3	4	131	1	0	0	0	0	1	0	0	0	9430	1232	43	3	4117	3	MED12	23	70350024	Missense_Mutation	SNP	G	TCGA-DX-AB37-01A-11D-A417-09	705130	70350024	84920536	65	10041											
ATRX	546	genome.wustl.edu	37	chrX	76874272	76874272	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttactatggaacatatttgtAcctgaacacatccagctaac	5	10	0	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chrX:76874272A>T	ENST00000373344.5	-	21	5663		c.e21+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATATTTGTACCTGAACACA	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						95	85	88					X																	76874272		2203	4295	6498	ATRX	SO:0001630	splice_region_variant	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5448+1T>A	X.37:g.76874272A>T		Somatic	0	112	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	49	25.76	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP							-	e21+2	ENST00000373344.5	37	c.5448+2	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	a	14.10	2.433813	0.43224	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400866	.	.	.	5.28	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8731	0.46896	0.8567:0.0:0.0:0.1433	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76760928	1.000000	0.71417	0.983000	0.44433	0.623000	0.37688	8.854000	0.92228	0.655000	0.30866	-0.396000	0.06452	.	-	-		0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	A	NM_000489	-	Intron	76874272	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	76874272	A	T	76874272	5	4	131	1	0	0	0	0	0	0	1	0	1208	405	14	5	2088	5	ATRX	23	76874272	Splice_Site	SNP	A	TCGA-DX-AB37-01A-11D-A417-09	6524248	76874272	78396288	66	10042											
ESX1	80712	genome.wustl.edu	37	chrX	103495558	103495558	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatttcgtttccacttggctCttctgttctgaaaccaaacc	6	12	3	1			TCGA-DX-AB37-01A-11D-A417-09	TCGA-DX-AB37-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15076dc6-beed-4d04-be1d-56f27a846f2b	a997a9b9-974e-4494-b473-f7f442843b4c	g.chrX:103495558C>A	ENST00000372588.4	-	4	655	c.572G>T	c.(571-573)aGa>aTa	p.R191I		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	191					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCACTTGGCTCTTCTGTTCTG	0.403																																					Pancreas(200;1705 2227 25194 28471 45274)												0								ENSG00000123576						125	108	114					X																	103495558		2203	4300	6503	ESX1	SO:0001583	missense	0			-	HGNC	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.572G>T	X.37:g.103495558C>A	ENSP00000361669:p.Arg191Ile	Somatic	0	31	0		0.516793641295976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	B0QYU3|Q7Z6K7	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.R191I	ENST00000372588.4	37	c.572	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778347	0.31502	.	.	ENSG00000123576	ENST00000372588	D	0.99311	-5.73	4.96	4.09	0.47781	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.	.	.	.	D	0.99588	0.9851	H	0.98594	4.275	0.51233	D	0.999917	D	0.89917	1.0	D	0.81914	0.995	D	0.98321	1.0528	9	0.87932	D	0	-16.3936	8.5398	0.33386	0.0:0.8105:0.0:0.1895	.	191	Q8N693	ESX1_HUMAN	I	191	ENSP00000361669:R191I	ENSP00000361669:R191I	R	-	2	0	ESX1	103382214	1.000000	0.71417	0.046000	0.18839	0.031000	0.12232	3.425000	0.52771	1.158000	0.42547	-0.192000	0.12808	AGA	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.403	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	protein_coding	OTTHUMT00000057763.2	C	NM_153448	-		103495558	-1	no_errors	ENST00000372588	ensembl	human	known	74_37	missense	SNP	0.885	A	A	103495558	C	A	103495558	3	1	131	1	0	0	0	0	1	0	0	0	5265	913	32	3	652	3	ESX1	23	103495558	Missense_Mutation	SNP	C	TCGA-DX-AB37-01A-11D-A417-09	26621286	103495558	51775002	67	10043											
ASAP3	55616	genome.wustl.edu	37	chr1	23763476	23763476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcacgcccagttcgcgGtggacgcccgagcactggat	14	14	0	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:23763476G>A	ENST00000336689.3	-	15	1448	c.1404C>T	c.(1402-1404)caC>caT	p.H468H	ASAP3_ENST00000437606.2_Silent_p.H459H|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	468	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCAGTTCGCGGTGGACGCCCG	0.682																																																	0								ENSG00000088280						25	24	24					1																	23763476		2202	4299	6501	ASAP3	SO:0001819	synonymous_variant	0			-	HGNC	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1404C>T	1.37:g.23763476G>A		Somatic	0	15	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP							pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.H468	ENST00000336689.3	37	c.1404	CCDS235.1	1																																																																																			-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.682	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	protein_coding	OTTHUMT00000008916.2	G	NM_017707	-		23763476	-1	no_errors	ENST00000336689	ensembl	human	known	74_37	silent	SNP	1.000	A	A	23763476	G	A	23763476	2	1	132	1	0	0	0	0	0	0	0	1	1012	1252	44	2		2	ASAP3	1	23763476	Silent	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		23763476	225487145	1	10044											
RUNX3	864	genome.wustl.edu	37	chr1	25291022	25291022	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caccgcggatgaaggtcggcGagtaggtcgggaaggagtcg	19	8	0	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:25291022G>T	ENST00000338888.3	-	2	286	c.41C>A	c.(40-42)tCg>tAg	p.S14*	RUNX3_ENST00000399916.1_Nonsense_Mutation_p.S14*|RP11-84D1.1_ENST00000456316.1_RNA			Q13761	RUNX3_HUMAN	runt-related transcription factor 3	0					axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAAGGTCGGCGAGTAGGTCGG	0.627																																																	0								ENSG00000020633						63	51	55					1																	25291022		2202	4300	6502	RUNX3	SO:0001587	stop_gained	0			-	HGNC	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000338888.3:c.41C>A	1.37:g.25291022G>T	ENSP00000343477:p.Ser14*	Somatic	0	80	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	71	30.39	B1AJV5|Q12969|Q13760	Nonsense_Mutation	SNP							pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	p.S14*	ENST00000338888.3	37	c.41	CCDS30633.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.902034	0.97920	.	.	ENSG00000020633	ENST00000399916;ENST00000338888	.	.	.	5.67	5.67	0.87782	.	0.738391	0.11146	N	0.594662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-1.2643	15.2825	0.73797	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000343477:S14X	S	-	2	0	RUNX3	25163609	1.000000	0.71417	0.996000	0.52242	0.491000	0.33493	5.755000	0.68750	2.677000	0.91161	0.561000	0.74099	TCG	-	pirsf_TF_Runt-rel_RUNX		0.627	RUNX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX3	protein_coding	OTTHUMT00000009285.1	G	NM_004350	-		25291022	-1	no_errors	ENST00000338888	ensembl	human	known	74_37	nonsense	SNP	0.965	T	T	25291022	G	T	25291022	4	4	132	1	0	0	0	0	0	1	0	0	13757	1059	37	3	1288	3	RUNX3	1	25291022	Nonsense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	1527546	25291022	223959599	2	10045											
MECR	51102	genome.wustl.edu	37	chr1	29542523	29542523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaaactcacctaaacCagcatttgctggaatcaccc	7	13	2	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:29542523C>T	ENST00000263702.6	-	3	425	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	MECR_ENST00000373791.3_Missense_Mutation_p.G58S|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	134					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)		TCACCTAAACCAGCATTTGCT	0.557																																																	0								ENSG00000116353						106	98	101					1																	29542523		2203	4300	6503	MECR	SO:0001583	missense	0			-	HGNC		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.400G>A	1.37:g.29542523C>T	ENSP00000263702:p.Gly134Ser	Somatic	0	45	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP							pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.G134S	ENST00000263702.6	37	c.400	CCDS30659.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159303	0.78226	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	T;T	0.40476	1.03;1.03	5.53	5.53	0.82687	GroES-like (1);	0.261642	0.43579	D	0.000560	T	0.38241	0.1033	L	0.37561	1.115	0.80722	D	1	B	0.14438	0.01	B	0.24269	0.052	T	0.11616	-1.0580	10	0.44086	T	0.13	.	16.963	0.86278	0.0:1.0:0.0:0.0	.	134	Q9BV79	MECR_HUMAN	S	58;134;46	ENSP00000362896:G58S;ENSP00000263702:G134S	ENSP00000263702:G134S	G	-	1	0	MECR	29415110	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	5.261000	0.65496	2.617000	0.88574	0.549000	0.68633	GGT	-	superfamily_GroES-like,smart_PKS_ER		0.557	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECR	protein_coding	OTTHUMT00000130740.1	C	NM_016011	-		29542523	-1	no_errors	ENST00000263702	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29542523	C	T	29542523	3	4	132	1	0	0	0	0	1	0	0	0	9426	594	21	2	753	2	MECR	1	29542523	Missense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	4251501	29542523	219708098	3	10046											
PLK3	1263	genome.wustl.edu	37	chr1	45271296	45271296	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctgctctccagacctGcggcagcgactccgctatgc	12	16	1	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:45271296G>T	ENST00000372201.4	+	15	2126	c.1887G>T	c.(1885-1887)ctG>ctT	p.L629L	BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank|PLK3_ENST00000465443.1_3'UTR|BTBD19_ENST00000409335.2_5'Flank	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	629	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCCAGACCTGCGGCAGCGAC	0.652																																																	0								ENSG00000173846						78	76	77					1																	45271296		2203	4300	6503	PLK3	SO:0001819	synonymous_variant	0			-	HGNC	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1887G>T	1.37:g.45271296G>T		Somatic	0	45	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q15767|Q5JR99|Q96CV1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.L629	ENST00000372201.4	37	c.1887	CCDS515.1	1																																																																																			-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom		0.652	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	protein_coding	OTTHUMT00000023429.1	G	NM_004073	-		45271296	1	no_errors	ENST00000372201	ensembl	human	known	74_37	silent	SNP	0.944	T	T	45271296	G	T	45271296	2	4	132	1	0	0	0	0	0	0	0	1	12099	1306	46	3		3	PLK3	1	45271296	Silent	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	15728773	45271296	203979325	4	10047											
ARHGEF11	9826	genome.wustl.edu	37	chr1	156917189	156917189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcattcgctggtagaagaTcaggtccaggacccggagtg	13	10	2	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:156917189T>C	ENST00000361409.2	-	25	3017	c.2275A>G	c.(2275-2277)Atc>Gtc	p.I759V	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.I799V|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.I175V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	759	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					TGGTAGAAGATCAGGTCCAGG	0.562																																																	0								ENSG00000132694						45	50	49					1																	156917189		2203	4300	6503	ARHGEF11	SO:0001583	missense	0			-	HGNC	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.2275A>G	1.37:g.156917189T>C	ENSP00000354644:p.Ile759Val	Somatic	0	32	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP							pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.I799V	ENST00000361409.2	37	c.2395	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438214	0.01098	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.65916	-0.18;-0.18;-0.18	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.111649	0.40222	N	0.001156	T	0.11067	0.0270	N	0.01473	-0.845	0.31576	N	0.655742	B;B;B	0.19935	0.04;0.018;0.003	B;B;B	0.24974	0.057;0.03;0.012	T	0.21008	-1.0258	10	0.02654	T	1	-18.4605	7.0627	0.25135	0.0:0.0771:0.1505:0.7724	.	175;759;799	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	V	799;759;175	ENSP00000357177:I799V;ENSP00000354644:I759V;ENSP00000313470:I175V	ENSP00000313470:I175V	I	-	1	0	ARHGEF11	155183813	0.390000	0.25213	0.997000	0.53966	0.138000	0.21146	0.797000	0.26999	2.278000	0.76064	0.533000	0.62120	ATC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	protein_coding	OTTHUMT00000098931.1	T	NM_198236	-		156917189	-1	no_errors	ENST00000368194	ensembl	human	known	74_37	missense	SNP	0.675	C	C	156917189	T	C	156917189	3	2	132	1	0	0	0	0	1	0	0	0	896	1435	50	5	2357	5	ARHGEF11	1	156917189	Missense_Mutation	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09	111645893	156917189	92333432	5	10048											
TBX19	9095	genome.wustl.edu	37	chr1	168269673	168269673	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttcagaaatcacctaagaGacgtaccggaggctatctct	8	11	3	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:168269673G>T	ENST00000367821.3	+	5	730	c.679G>T	c.(679-681)Gac>Tac	p.D227Y		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	227					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCACCTAAGAGACGTACCGGA	0.478																																																	0								ENSG00000143178						111	99	103					1																	168269673		2203	4300	6503	TBX19	SO:0001583	missense	0			-	HGNC	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.679G>T	1.37:g.168269673G>T	ENSP00000356795:p.Asp227Tyr	Somatic	0	53	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q52M53	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.D227Y	ENST00000367821.3	37	c.679	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260583|3.260583	0.59431|0.59431	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969;ENST00000441464	D|D;T	0.84800|0.94723	-1.9|-3.5;1.36	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|.	.|.	.|.	.|.	D|D	0.94604|0.94604	0.8261|0.8261	L|L	0.49640|0.49640	1.575|1.575	0.44995|.	D|.	0.998013|.	D;P|.	0.59767|.	0.986;0.845|.	P;B|.	0.53722|.	0.733;0.272|.	D|D	0.95232|0.95232	0.8343|0.8343	8|6	0.62326|0.66056	D|D	0.03|0.02	.|.	18.1717|18.1717	0.89747|0.89747	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;158|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	Y|I	227;167|159;59	ENSP00000356795:D227Y|ENSP00000397540:R159I;ENSP00000390731:R59I	ENSP00000356795:D227Y|ENSP00000397540:R159I	D|R	+|+	1|2	0|0	TBX19|TBX19	166536297|166536297	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.076000|0.076000	0.17211|0.17211	6.851000|6.851000	0.75425|0.75425	2.352000|2.352000	0.79861|0.79861	0.650000|0.650000	0.86243|0.86243	GAC|AGA	-	NULL		0.478	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	protein_coding	OTTHUMT00000083825.1	G	NM_005149	-		168269673	1	no_errors	ENST00000367821	ensembl	human	known	74_37	missense	SNP	1.000	T	T	168269673	G	T	168269673	3	4	132	1	0	0	0	0	1	0	0	0	15661	942	33	3	697	3	TBX19	1	168269673	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	11352484	168269673	80980948	6	10049											
IRF2BP2	359948	genome.wustl.edu	37	chr1	234743418	234743418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcggtgtggtccggTtggaatgaggtgaggcagtg	19	6	1	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:234743418T>C	ENST00000366609.3	-	2	1259	c.1229A>G	c.(1228-1230)aAc>aGc	p.N410S	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.N394S|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			TGTGGTCCGGTTGGAATGAGG	0.587																																																	0								ENSG00000168264						96	103	101					1																	234743418		2203	4300	6503	IRF2BP2	SO:0001583	missense	0			-	HGNC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1229A>G	1.37:g.234743418T>C	ENSP00000355568:p.Asn410Ser	Somatic	0	43	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	13	59.38	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP							pfam_Interferon_reg_fac2-bd1_2_Znf	p.N410S	ENST00000366609.3	37	c.1229	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965076	0.34659	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.30714	1.52;1.52	5.44	5.44	0.79542	.	0.177493	0.49305	D	0.000144	T	0.30417	0.0764	L	0.29908	0.895	0.46901	D	0.999241	P;D	0.55385	0.951;0.971	B;P	0.50659	0.444;0.647	T	0.03051	-1.1078	10	0.10636	T	0.68	-4.8531	15.4818	0.75534	0.0:0.0:0.0:1.0	.	410;394	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	S	394;410	ENSP00000355569:N394S;ENSP00000355568:N410S	ENSP00000355568:N410S	N	-	2	0	IRF2BP2	232810041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.596000	0.67570	2.073000	0.62155	0.533000	0.62120	AAC	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.587	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	protein_coding	OTTHUMT00000092705.1	T	NM_182972	-		234743418	-1	no_errors	ENST00000366609	ensembl	human	novel	74_37	missense	SNP	1.000	C	C	234743418	T	C	234743418	3	2	132	1	0	0	0	0	1	0	0	0	7832	1725	60	5	538	5	IRF2BP2	1	234743418	Missense_Mutation	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09	66473745	234743418	14507203	7	10050											
OR6F1	343169	genome.wustl.edu	37	chr1	247875753	247875753	+	Frame_Shift_Del	DEL	T	T	-													agcctaatgagaaaacaaagTacatctgcaaaagacagctt							TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:247875753delT	ENST00000302084.2	-	1	352	c.305delA	c.(304-306)tacfs	p.Y102fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	102						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(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAAACAAAGTACATCTGCAA	0.488																																																	0								ENSG00000169214						111	108	109					1																	247875753		2203	4300	6503	OR6F1	SO:0001589	frameshift_variant	0				HGNC	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.305delA	1.37:g.247875753delT	ENSP00000305640:p.Tyr102fs	Somatic	0	47	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B2RNV6|Q6IF02|Q96R39	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y102fs	ENST00000302084.2	37	c.305	CCDS31095.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	protein_coding	OTTHUMT00000096870.1	T	NM_001005286			247875753	-1	no_errors	ENST00000302084	ensembl	human	known	74_37	frame_shift_del	DEL	0.784	-	-	247875753	T	-	247875753	7	5	132	1	0	1	0	1	0	0	0	0	11203	1638	57	0	625	0	OR6F1	1	247875753	Frame_Shift_Del	DEL	T	TCGA-DX-AB3A-01A-11D-A417-09	13132335	247875753	1374868	8	10051											
OR2T8	343172	genome.wustl.edu	37	chr1	248085156	248085156	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagccttctatactatgttCacccctttactaaaccccct	2	16	3	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr1:248085156C>A	ENST00000319968.4	+	1	837	c.837C>A	c.(835-837)ttC>ttA	p.F279L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATACTATGTTCACCCCTTTAC	0.478																																																	0								ENSG00000177462						140	131	134					1																	248085156		2203	4298	6501	OR2T8	SO:0001583	missense	0			-	HGNC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.837C>A	1.37:g.248085156C>A	ENSP00000326225:p.Phe279Leu	Somatic	0	80	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F279L	ENST00000319968.4	37	c.837	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.367797	0.01225	.	.	ENSG00000177462	ENST00000319968	T	0.00027	8.93	3.56	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34531	U	0.003884	T	0.00039	0.0001	N	0.00453	-1.485	0.09310	N	1	B	0.20052	0.041	B	0.26864	0.074	T	0.44034	-0.9354	10	0.02654	T	1	.	2.2641	0.04074	0.3126:0.284:0.306:0.0973	.	279	A6NH00	OR2T8_HUMAN	L	279	ENSP00000326225:F279L	ENSP00000326225:F279L	F	+	3	2	OR2T8	246151779	0.000000	0.05858	0.069000	0.20011	0.049000	0.14656	-0.284000	0.08422	0.162000	0.19483	0.404000	0.27445	TTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	protein_coding	OTTHUMT00000096862.1	C	NM_001005522	-		248085156	1	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	SNP	0.022	A	A	248085156	C	A	248085156	3	1	132	1	0	0	0	0	1	0	0	0	11032	825	29	3	839	3	OR2T8	1	248085156	Missense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	209403	248085156	1165465	9	10052											
PPM1B	5495	genome.wustl.edu	37	chr2	44459458	44459458	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctcttcctgtagggtGctggagatctagaagaccca	10	10	2	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:44459458G>A	ENST00000282412.4	+	0	2606				PPM1B_ENST00000378551.2_Missense_Mutation_p.A380T|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTGTAGGGTGCTGGAGATCT	0.323																																																	0								ENSG00000138032						109	123	118					2																	44459458		2203	4300	6503	PPM1B	SO:0001628	intergenic_variant	0			-	HGNC	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757		2.37:g.44459458G>A		Somatic	0	52	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP							pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom	p.A380T	ENST00000282412.4	37	c.1138	CCDS1817.1	2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694835	0.30052	.	.	ENSG00000138032	ENST00000378551	T	0.23147	1.92	5.77	5.77	0.91146	.	.	.	.	.	T	0.20210	0.0486	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.02190	-1.1198	9	0.56958	D	0.05	.	14.4374	0.67290	0.0:0.0:0.7412:0.2588	.	380	O75688-2	.	T	380	ENSP00000367813:A380T	ENSP00000367813:A380T	A	+	1	0	PPM1B	44312962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.052000	0.57420	2.928000	0.99379	0.638000	0.83543	GCT	-	NULL		0.323	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	protein_coding	OTTHUMT00000250672.1	G	NM_002706	-		44459458	1	no_errors	ENST00000378551	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44459458	G	A	44459458	1	1	132	0	1	0	0	0	0	0	0	0	12341	1319	46	2		2	PPM1B	2	44459458	IGR	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		44459458	198739915	10	10053											
TACR1	6869	genome.wustl.edu	37	chr2	75425694	75425698	+	Frame_Shift_Del	DEL	TGGAG	TGGAG	-													atcaaaggccacagccgtcaTggagtagatactggcgaaga							TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	TGGAG	TGGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:75425694_75425698delTGGAG	ENST00000305249.5	-	1	1128_1132	c.363_367delCTCCA	c.(361-369)tactccatgfs	p.SM122fs	TACR1_ENST00000409848.3_Frame_Shift_Del_p.SM122fs	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	122					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	ACAGCCGTCATGGAGTAGATACTGG	0.502																																					Pancreas(64;62 1268 3653 14826 43765)												0								ENSG00000115353																																			TACR1	SO:0001589	frameshift_variant	0				HGNC	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.363_367delCTCCA	2.37:g.75425694_75425698delTGGAG	ENSP00000303522:p.Ser122fs	Somatic					0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K150	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.S122fs	ENST00000305249.5	37	c.367_363	CCDS1958.1	2																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.502	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	protein_coding	OTTHUMT00000252239.3	TGGAG	NM_001058			75425698	-1	no_errors	ENST00000305249	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-	-	75425698	TGGAG	-	75425694	7	5	132	1	0	1	0	1	0	0	0	0	15512	1464	51	0	880	0	TACR1	2	75425694	Frame_Shift_Del	DEL	TGGAG	TCGA-DX-AB3A-01A-11D-A417-09	30966236	75425694	167773679	11	10054											
EDAR	10913	genome.wustl.edu	37	chr2	109545698	109545698	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcattctccatgtccccTggtgtcagcacggtggcccg	12	15	3	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:109545698T>A	ENST00000258443.2	-	4	742	c.312A>T	c.(310-312)ccA>ccT	p.P104P	EDAR_ENST00000376651.1_Silent_p.P104P|EDAR_ENST00000409271.1_Silent_p.P104P	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	104					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCATGTCCCCTGGTGTCAGCA	0.607																																																	0								ENSG00000135960						83	63	70					2																	109545698		2203	4300	6503	EDAR	SO:0001819	synonymous_variant	0			-	HGNC	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.312A>T	2.37:g.109545698T>A		Somatic	0	76	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP							pfam_Death_domain,superfamily_DEATH-like_dom	p.P104	ENST00000258443.2	37	c.312	CCDS2081.1	2																																																																																			-	NULL		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	protein_coding	OTTHUMT00000253595.1	T		-		109545698	-1	no_errors	ENST00000376651	ensembl	human	known	74_37	silent	SNP	0.011	A	A	109545698	T	A	109545698	2	1	132	1	0	0	0	0	0	0	0	1	4907	1567	55	5		5	EDAR	2	109545698	Silent	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09	34120004	109545698	133653675	12	10055											
TUBA3D	113457	genome.wustl.edu	37	chr2	132237643	132237643	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtggtttctctcaggCggatctgtgcacaggactgc	14	9	3	0	rs72992288	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:132237643C>T	ENST00000321253.6	+	4	484	c.377C>T	c.(376-378)gCg>gTg	p.A126V	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	126					'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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TTCTCTCAGGCGGATCTGTGC	0.572																																					Ovarian(137;2059 2432 35543 39401)												0								ENSG00000075886						42	47	45					2																	132237643		2203	4300	6503	TUBA3D	SO:0001630	splice_region_variant	0			-	HGNC	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.376-1C>T	2.37:g.132237643C>T		Somatic	0	42	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	73	14.12	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.A126V	ENST00000321253.6	37	c.377	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	c	3.775	-0.046823	0.07407	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.66638	-0.22	2.24	1.33	0.21861	Tubulin/FtsZ, GTPase domain (4);	0.356468	0.19523	U	0.112234	T	0.54663	0.1872	L	0.41415	1.275	0.80722	D	1	B	0.26363	0.147	B	0.31191	0.125	T	0.51348	-0.8717	10	0.87932	D	0	.	6.8167	0.23835	0.0:0.8406:0.0:0.1594	.	126	Q13748	TBA3C_HUMAN	V	126	ENSP00000326042:A126V	ENSP00000326042:A126V	A	+	2	0	TUBA3D	131954113	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	4.780000	0.62382	0.267000	0.21916	0.194000	0.17425	GCG	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin		0.572	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	protein_coding	OTTHUMT00000331800.2	C	NM_080386	rs72992288	Missense_Mutation	132237643	1	no_errors	ENST00000321253	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132237643	C	T	132237643	5	4	132	1	0	0	0	0	0	0	1	0	16754	782	27	1	391	1	TUBA3D	2	132237643	Splice_Site	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	22691945	132237643	110961730	13	10056											
MRPL44	65080	genome.wustl.edu	37	chr2	224824624	224824624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacactgagtgaagaattcCcagtgcccccagctgtgtta	9	11	0	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:224824624C>T	ENST00000258383.3	+	2	622	c.553C>T	c.(553-555)Cca>Tca	p.P185S		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	185	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGAAGAATTCCCAGTGCCCCC	0.483																																																	0								ENSG00000135900						117	114	115					2																	224824624		2203	4300	6503	MRPL44	SO:0001583	missense	0			-	HGNC	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.553C>T	2.37:g.224824624C>T	ENSP00000258383:p.Pro185Ser	Somatic	0	50	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP							superfamily_RNase_III_dom,pfscan_dsRNA-bd_dom	p.P185S	ENST00000258383.3	37	c.553	CCDS2459.1	2	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554077	0.65425	.	.	ENSG00000135900	ENST00000258383	T	0.42513	0.97	5.7	5.7	0.88788	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	T	0.67007	-0.5779	10	0.23302	T	0.38	-11.3184	17.3321	0.87268	0.0:1.0:0.0:0.0	.	185	Q9H9J2	RM44_HUMAN	S	185	ENSP00000258383:P185S	ENSP00000258383:P185S	P	+	1	0	MRPL44	224532868	1.000000	0.71417	0.995000	0.50966	0.299000	0.27559	7.338000	0.79269	2.683000	0.91414	0.650000	0.86243	CCA	-	superfamily_RNase_III_dom		0.483	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	protein_coding	OTTHUMT00000256866.2	C	NM_022915	-		224824624	1	no_errors	ENST00000258383	ensembl	human	known	74_37	missense	SNP	1.000	T	T	224824624	C	T	224824624	3	4	132	1	0	0	0	0	1	0	0	0	9810	623	22	2	559	2	MRPL44	2	224824624	Missense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	92586981	224824624	18374749	14	10057											
MRPL44	65080	genome.wustl.edu	37	chr2	224824683	224824683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttattggagccctgttacaGagcagtggacctgagaggac	14	8	0	2	rs544208460		TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:224824683G>T	ENST00000258383.3	+	2	681	c.612G>T	c.(610-612)caG>caT	p.Q204H		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	204	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCTGTTACAGAGCAGTGGAC	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		20078	0		0	False		,,,				2504	0																0								ENSG00000135900						83	80	81					2																	224824683		2203	4300	6503	MRPL44	SO:0001583	missense	0			-	HGNC	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.612G>T	2.37:g.224824683G>T	ENSP00000258383:p.Gln204His	Somatic	0	36	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP							superfamily_RNase_III_dom,pfscan_dsRNA-bd_dom	p.Q204H	ENST00000258383.3	37	c.612	CCDS2459.1	2	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654017	0.29425	.	.	ENSG00000135900	ENST00000258383	T	0.42513	0.97	5.7	0.189	0.15119	Ribonuclease III (3);	0.377447	0.30020	N	0.010618	T	0.26122	0.0637	L	0.37561	1.115	0.42674	D	0.993525	B	0.09022	0.002	B	0.06405	0.002	T	0.06789	-1.0807	10	0.20046	T	0.44	-30.9317	7.0498	0.25067	0.3137:0.1224:0.5639:0.0	.	204	Q9H9J2	RM44_HUMAN	H	204	ENSP00000258383:Q204H	ENSP00000258383:Q204H	Q	+	3	2	MRPL44	224532927	0.969000	0.33509	0.716000	0.30569	0.858000	0.48976	0.201000	0.17276	0.077000	0.16863	0.650000	0.86243	CAG	-	superfamily_RNase_III_dom		0.438	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	protein_coding	OTTHUMT00000256866.2	G	NM_022915	-		224824683	1	no_errors	ENST00000258383	ensembl	human	known	74_37	missense	SNP	0.983	T	T	224824683	G	T	224824683	3	4	132	1	0	0	0	0	1	0	0	0	9810	933	33	3	618	3	MRPL44	2	224824683	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	59	224824683	18374690	15	10058											
DGKD	8527	genome.wustl.edu	37	chr2	234343445	234343445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcatggaccacttctcaGggatgcacaattggtacgcc	10	12	1	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr2:234343445G>T	ENST00000264057.2	+	5	496	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W	DGKD_ENST00000409813.3_Missense_Mutation_p.G118W	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	162					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCACTTCTCAGGGATGCACAA	0.532																																																	0								ENSG00000077044						193	169	177					2																	234343445		2203	4300	6503	DGKD	SO:0001583	missense	0			-	HGNC	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.484G>T	2.37:g.234343445G>T	ENSP00000264057:p.Gly162Trp	Somatic	0	44	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.G162W	ENST00000264057.2	37	c.484	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724859	0.89298	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.92	4.92	0.64577	.	0.158034	0.40302	N	0.001130	T	0.61073	0.2318	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;P	0.97110	0.991;0.998;1.0;0.894	T	0.66689	-0.5860	10	0.87932	D	0	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	46;98;118;162	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	W	162;98;132;118	ENSP00000264057:G162W;ENSP00000407938:G98W;ENSP00000395530:G132W;ENSP00000386455:G118W	ENSP00000264057:G162W	G	+	1	0	DGKD	234008184	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.125000	0.94402	2.724000	0.93272	0.563000	0.77884	GGG	-	NULL		0.532	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	protein_coding	OTTHUMT00000257072.2	G	NM_003648	-		234343445	1	no_errors	ENST00000264057	ensembl	human	known	74_37	missense	SNP	1.000	T	T	234343445	G	T	234343445	3	4	132	1	0	0	0	0	1	0	0	0	4469	1000	35	3	526	3	DGKD	2	234343445	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	9518762	234343445	8855928	16	10059											
THRB	7068	genome.wustl.edu	37	chr3	24169081	24169081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccaggtcaaagatggcGtctgacaccaccccaagacc	9	15	2	3	rs115445992	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr3:24169081G>A	ENST00000356447.4	-	9	1337	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	THRB_ENST00000396671.2_Silent_p.D351D|THRB_ENST00000280696.5_Silent_p.D366D|THRB_ENST00000416420.1_Silent_p.D351D	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	351	Interaction with NR2F6.|Ligand-binding.				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)	CAAAGATGGCGTCTGACACCA	0.532													G|||	3	0.000599042	0	0.0014	5008	,	,		18935	0.002		0	False		,,,				2504	0				Melanoma(21;896 1043 15021 37958)												0								ENSG00000151090	G	,,	1,4405	2.1+/-5.4	0,1,2202	144	133	136		1053,1053,1053	-6.5	0.8	3	dbSNP_132	136	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	THRB	NM_000461.4,NM_001128176.1,NM_001128177.1	,,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,,	351/462,351/462,351/462	24169081	4,13002	2203	4300	6503	THRB	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		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.1053C>T	3.37:g.24169081G>A		Somatic	0	100	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	61	42.45	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D351	ENST00000356447.4	37	c.1053	CCDS2641.1	3																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.532	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	THRB	protein_coding	OTTHUMT00000252877.3	G	NM_000461	rs115445992		24169081	-1	no_errors	ENST00000356447	ensembl	human	known	74_37	silent	SNP	0.894	A	A	24169081	G	A	24169081	2	1	132	1	0	0	0	0	0	0	0	1	15882	1136	40	1		1	THRB	3	24169081	Silent	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		24169081	173853349	17	10060											
PARP3	10039	genome.wustl.edu	37	chr3	51978127	51978127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgaggactacaactgcaCcctgaaccagaccaacatcg	8	13	0	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr3:51978127C>T	ENST00000417220.2	+	4	694	c.206C>T	c.(205-207)aCc>aTc	p.T69I	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000398755.3_Missense_Mutation_p.T76I|PARP3_ENST00000431474.1_Missense_Mutation_p.T69I			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	69					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TACAACTGCACCCTGAACCAG	0.587																																																	0								ENSG00000041880						143	153	150					3																	51978127		2057	4201	6258	PARP3	SO:0001583	missense	0			-	HGNC	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.206C>T	3.37:g.51978127C>T	ENSP00000395951:p.Thr69Ile	Somatic	0	63	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.T76I	ENST00000417220.2	37	c.227	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109286	0.56398	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.87	4.87	0.63330	WGR domain (3);	0.048311	0.85682	D	0.000000	T	0.35248	0.0925	M	0.86573	2.825	0.39419	D	0.966887	P;P	0.48589	0.893;0.912	P;P	0.52793	0.585;0.709	T	0.29366	-1.0014	10	0.46703	T	0.11	-24.8708	8.9644	0.35867	0.0:0.8337:0.0:0.1663	.	76;69	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	I	69;69;76;69	ENSP00000395951:T69I;ENSP00000401511:T69I;ENSP00000381740:T76I;ENSP00000417625:T69I	ENSP00000381740:T76I	T	+	2	0	PARP3	51953167	1.000000	0.71417	0.997000	0.53966	0.309000	0.27889	3.581000	0.53914	2.235000	0.73313	0.655000	0.94253	ACC	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain		0.587	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	protein_coding	OTTHUMT00000348612.2	C	NM_005485.4	-		51978127	1	no_errors	ENST00000398755	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51978127	C	T	51978127	3	4	132	1	0	0	0	0	1	0	0	0	11464	507	18	2	237	2	PARP3	3	51978127	Missense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	27809046	51978127	146044303	18	10061											
CCDC80	151887	genome.wustl.edu	37	chr3	112357638	112357638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtcataggtcttgcaGcaactgttaccgcccgggac	13	11	2	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr3:112357638G>T	ENST00000206423.3	-	2	2068	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.A372D	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	372	Thr-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGTCTTGCAGCAACTGTTAC	0.642																																																	0								ENSG00000091986						81	71	75					3																	112357638		2203	4300	6503	CCDC80	SO:0001583	missense	0			-	HGNC	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1115C>A	3.37:g.112357638G>T	ENSP00000206423:p.Ala372Asp	Somatic	0	26	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP							NULL	p.A372D	ENST00000206423.3	37	c.1115	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232225	0.58777	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.50548	0.74;0.74	4.89	4.89	0.63831	.	0.110597	0.64402	D	0.000007	T	0.45915	0.1366	L	0.27053	0.805	0.80722	D	1	P;P;P	0.52577	0.835;0.954;0.745	B;P;B	0.49752	0.429;0.621;0.247	T	0.33137	-0.9880	10	0.32370	T	0.25	-7.3048	18.2349	0.89946	0.0:0.0:1.0:0.0	.	383;372;372	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	D	372	ENSP00000206423:A372D;ENSP00000411814:A372D	ENSP00000206423:A372D	A	-	2	0	CCDC80	113840328	0.994000	0.37717	0.108000	0.21378	0.034000	0.12701	5.501000	0.66950	2.535000	0.85469	0.555000	0.69702	GCT	-	NULL		0.642	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	protein_coding	OTTHUMT00000354219.1	G	NM_199511	-		112357638	-1	no_errors	ENST00000206423	ensembl	human	known	74_37	missense	SNP	0.796	T	T	112357638	G	T	112357638	3	4	132	1	0	0	0	0	1	0	0	0	2856	971	34	3	1765	3	CCDC80	3	112357638	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	60379511	112357638	85664792	19	10062											
HCLS1	3059	genome.wustl.edu	37	chr3	121351315	121351316	+	In_Frame_Ins	INS	-	-	GGCTCAGGCTCA													caggctcgggctcaggctcgINSggctcaggctcaggctctgc					rs150627065|rs372720825|rs80289672	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr3:121351315_121351316insGGCTCAGGCTCA	ENST00000314583.3	-	12	1194_1195	c.1103_1104insTGAGCCTGAGCC	c.(1102-1104)ccc>ccTGAGCCTGAGCCc	p.368_368P>PEPEP	HCLS1_ENST00000428394.2_In_Frame_Ins_p.331_331P>PEPEP|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	368					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)		gctcaggctcgggctcaggctc	0.604														1208	0.241214	0.1573	0.1599	5008	,	,		14710	0.4563		0.2485	False		,,,				2504	0.183																0			GRCh37	CI045897	HCLS1	I	rs80289672	ENSG00000180353																																			HCLS1	SO:0001652	inframe_insertion	0				HGNC		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.1092_1103dupTGAGCCTGAGCC	3.37:g.121351315_121351316insGGCTCAGGCTCA	ENSP00000320176:p.GluProGluPro372dup	Somatic					0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	In_Frame_Ins	INS							pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.372in_frame_insPEPE	ENST00000314583.3	37	c.1104_1103	CCDS3003.1	3																																																																																			-	NULL		0.604	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	protein_coding	OTTHUMT00000355144.1	-	NM_005335			121351316	-1	no_errors	ENST00000314583	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.003	GGCTCAGGCTCA	GGCTCAGGCTCA	121351316	-	GGCTCAGGCTCA	121351315	7	5	132	1	0	1	1	0	0	0	0	0	6997	1103	39	0	368	0	HCLS1	3	121351315	In_Frame_Ins	INS	-	TCGA-DX-AB3A-01A-11D-A417-09	8993677	121351315	76671115	20	10063											
NUDT16	131870	genome.wustl.edu	37	chr3	131101009	131101009	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcgaagcggctgcCgctttccgcgtggagcgcac	17	13	0	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr3:131101009C>A	ENST00000521288.1	+	2	289	c.258C>A	c.(256-258)gcC>gcA	p.A86A	NUDT16_ENST00000502852.1_Silent_p.A86A|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Silent_p.A40A|NUDT16_ENST00000359850.3_Silent_p.A53A			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	86	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						AAGCGGCTGCCGCTTTCCGCG	0.682																																																	0								ENSG00000198585						23	27	25					3																	131101009		2169	4234	6403	NUDT16	SO:0001819	synonymous_variant	0			-	HGNC	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"Nudix motif containing"	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.258C>A	3.37:g.131101009C>A		Somatic	0	53	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	67	20.00	B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.A86	ENST00000521288.1	37	c.258	CCDS3070.2	3																																																																																			-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.682	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16	protein_coding	OTTHUMT00000356537.9	C	NM_152395	-		131101009	1	no_errors	ENST00000521288	ensembl	human	known	74_37	silent	SNP	0.752	A	A	131101009	C	A	131101009	2	1	132	1	0	0	0	0	0	0	0	1	10734	639	23	3		3	NUDT16	3	131101009	Silent	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	9749694	131101009	66921421	21	10064											
IFT80	57560	genome.wustl.edu	37	chr3	160083847	160083847	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgcaaaactttagcaTttggttgaagaggtttaatg	10	5	0	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr3:160083847T>A	ENST00000326448.7	-	6	965	c.533A>T	c.(532-534)aAt>aTt	p.N178I	IFT80_ENST00000496589.1_Missense_Mutation_p.N41I|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.N349I|IFT80_ENST00000483465.1_Missense_Mutation_p.N41I	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	178					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACTTTAGCATTTGGTTGAAG	0.428																																																	0								ENSG00000248710						140	133	135					3																	160083847		2203	4300	6503	RP11-432B6.3	SO:0001583	missense	0			-	Clone_based_vega_gene	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.533A>T	3.37:g.160083847T>A	ENSP00000312778:p.Asn178Ile	Somatic	0	88	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N349I	ENST00000326448.7	37	c.1046	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524891	0.64747	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537;ENST00000475677;ENST00000498409;ENST00000468218	T;T;T;T;T	0.61274	1.52;5.0;5.0;1.53;0.12	5.63	4.46	0.54185	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114051	0.36002	U	0.002856	T	0.50735	0.1633	M	0.73217	2.22	0.58432	D	0.999997	P	0.39216	0.664	B	0.31191	0.125	T	0.54323	-0.8311	10	0.66056	D	0.02	-1.1854	8.9078	0.35535	0.0:0.1443:0.0:0.8557	.	178	Q9P2H3	IFT80_HUMAN	I	178;41;41;41;41;178;41	ENSP00000312778:N178I;ENSP00000418196:N41I;ENSP00000420646:N41I;ENSP00000418602:N41I;ENSP00000420001:N178I	ENSP00000312778:N178I	N	-	2	0	IFT80	161566541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.807000	0.47955	0.951000	0.37770	0.533000	0.62120	AAT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.428	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	protein_coding	OTTHUMT00000352651.2	T	NM_020800	-		160083847	-1	no_errors	ENST00000483754	ensembl	human	known	74_37	missense	SNP	1.000	A	A	160083847	T	A	160083847	3	1	132	1	0	0	0	0	1	0	0	0	7566	1493	52	5	1860	5	IFT80	3	160083847	Missense_Mutation	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09	28982838	160083847	37938583	22	10065											
PLK2	10769	genome.wustl.edu	37	chr5	57753404	57753404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataatttggggtaccacaTatcgttctggaaagacaaaa	9	6	1	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr5:57753404T>C	ENST00000274289.3	-	6	1020	c.720A>G	c.(718-720)atA>atG	p.I240M	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGGTACCACATATCGTTCTGG	0.398																																																	0								ENSG00000145632						93	91	92					5																	57753404		2203	4300	6503	PLK2	SO:0001583	missense	0			-	HGNC		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.720A>G	5.37:g.57753404T>C	ENSP00000274289:p.Ile240Met	Somatic	0	30	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.I240M	ENST00000274289.3	37	c.720	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476929	0.63849	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.25414	1.8	5.76	4.55	0.56014	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	0.31199	0.0789	N	0.16743	0.435	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.10823	-1.0613	10	0.72032	D	0.01	-25.6883	9.1447	0.36925	0.1039:0.0:0.177:0.7191	.	240	Q9NYY3	PLK2_HUMAN	M	240;240;226	ENSP00000274289:I240M	ENSP00000274289:I240M	I	-	3	3	PLK2	57789161	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.825000	0.55730	2.191000	0.70037	0.533000	0.62120	ATA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.398	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	protein_coding	OTTHUMT00000214150.1	T	NM_006622	-		57753404	-1	no_errors	ENST00000274289	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57753404	T	C	57753404	3	2	132	1	0	0	0	0	1	0	0	0	12098	1396	49	5	1373	5	PLK2	5	57753404	Missense_Mutation	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09		57753404	123161856	23	10066											
LNPEP	4012	genome.wustl.edu	37	chr5	96358015	96358015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctctagactagggtattTaaattacttcaaaaccaaat	4	8	3	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr5:96358015T>G	ENST00000231368.5	+	14	3080	c.2388T>G	c.(2386-2388)ttT>ttG	p.F796L	LNPEP_ENST00000395770.3_Missense_Mutation_p.F782L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	796					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTAGGGTATTTAAATTACTTC	0.403																																																	0								ENSG00000113441						56	57	57					5																	96358015		2203	4300	6503	LNPEP	SO:0001583	missense	0			-	HGNC	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2388T>G	5.37:g.96358015T>G	ENSP00000231368:p.Phe796Leu	Somatic	0	52	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F796L	ENST00000231368.5	37	c.2388	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	T	0.489	-0.876381	0.02550	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04454	3.62;3.62	5.6	1.85	0.25348	.	0.735084	0.14162	N	0.337287	T	0.00967	0.0032	N	0.00377	-1.585	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47586	-0.9106	10	0.05833	T	0.94	.	2.8149	0.05453	0.2622:0.2502:0.0:0.4876	.	796	Q9UIQ6	LCAP_HUMAN	L	796;782	ENSP00000231368:F796L;ENSP00000379117:F782L	ENSP00000231368:F796L	F	+	3	2	LNPEP	96383771	0.001000	0.12720	0.996000	0.52242	0.486000	0.33341	-0.211000	0.09332	1.066000	0.40716	0.533000	0.62120	TTT	-	NULL		0.403	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	protein_coding	OTTHUMT00000250624.1	T	NM_005575	-		96358015	1	no_errors	ENST00000231368	ensembl	human	known	74_37	missense	SNP	0.121	G	G	96358015	T	G	96358015	3	3	132	1	0	0	0	0	1	0	0	0	8866	1751	61	5	2442	5	LNPEP	5	96358015	Missense_Mutation	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09	38604611	96358015	84557245	24	10067											
APC	324	genome.wustl.edu	37	chr5	112116600	112116600	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatggaaaaacgagcacaGgtaagttacttgtttctaag	10	5	1	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr5:112116600G>T	ENST00000457016.1	+	6	1025	c.645G>T	c.(643-645)caG>caT	p.Q215H	APC_ENST00000257430.4_Splice_Site_p.Q215H|APC_ENST00000508376.2_Splice_Site_p.Q215H|RNU6-482P_ENST00000391068.1_RNA			P25054	APC_HUMAN	adenomatous polyposis coli	215	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACGAGCACAGGTAAGTTACT	0.348		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	0								ENSG00000134982						53	52	53					5																	112116600		2202	4300	6502	APC	SO:0001630	splice_region_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	-	HGNC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.645+1G>T	5.37:g.112116600G>T		Somatic	0	121	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	103	14.88	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP							pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q215H	ENST00000457016.1	37	c.645	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839048	0.91117	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	M	0.76328	2.33	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.73708	0.981;0.981	D	0.95405	0.8493	10	0.87932	D	0	-7.1624	19.5353	0.95251	0.0:0.0:1.0:0.0	.	217;215	Q4LE70;P25054	.;APC_HUMAN	H	215;225;215;215;215	ENSP00000413133:Q215H;ENSP00000423224:Q225H;ENSP00000257430:Q215H;ENSP00000427089:Q215H;ENSP00000423828:Q215H	ENSP00000257430:Q215H	Q	+	3	2	APC	112144499	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.834000	0.92094	2.607000	0.88179	0.655000	0.94253	CAG	-	NULL		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	G	NM_000038	-	Missense_Mutation	112116600	1	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112116600	G	T	112116600	5	4	132	1	0	0	0	0	0	0	1	0	763	1014	35	3	663	3	APC	5	112116600	Splice_Site	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	15758585	112116600	68798660	25	10068											
SLC16A10	117247	genome.wustl.edu	37	chr6	111498746	111498746	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctccctcttttccaggAaaaagttcagtcctccaaaa	5	13	2	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr6:111498746A>C	ENST00000368851.5	+	3	995	c.820A>C	c.(820-822)Aaa>Caa	p.K274Q	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	274					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTTTTCCAGGAAAAAGTTCAG	0.428																																																	0								ENSG00000112394						60	62	61					6																	111498746		2203	4300	6503	SLC16A10	SO:0001583	missense	0			-	HGNC	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.820A>C	6.37:g.111498746A>C	ENSP00000357844:p.Lys274Gln	Somatic	0	20	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K274Q	ENST00000368851.5	37	c.820	CCDS5089.1	6	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761923	0.31228	.	.	ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853	T	0.61859	0.07	5.21	2.69	0.31865	Major facilitator superfamily domain, general substrate transporter (1);	3.694310	0.00682	N	0.000697	T	0.10852	0.0265	N	0.00926	-1.1	0.80722	D	1	B;B	0.20887	0.001;0.049	B;B	0.22152	0.007;0.038	T	0.32161	-0.9917	10	0.10636	T	0.68	.	7.5221	0.27635	0.5653:0.0:0.4347:0.0	.	274;274	Q8TF71;Q05BR4	MOT10_HUMAN;.	Q	274;274;165	ENSP00000357844:K274Q	ENSP00000357844:K274Q	K	+	1	0	SLC16A10	111605439	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.690000	0.47001	0.342000	0.23796	0.460000	0.39030	AAA	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A10	protein_coding	OTTHUMT00000041822.2	A		-		111498746	1	no_errors	ENST00000368851	ensembl	human	known	74_37	missense	SNP	1.000	C	C	111498746	A	C	111498746	3	2	132	1	0	0	0	0	1	0	0	0	14411	247	9	5	830	5	SLC16A10	6	111498746	Missense_Mutation	SNP	A	TCGA-DX-AB3A-01A-11D-A417-09		111498746	59616321	26	10069											
HEATR2	54919	genome.wustl.edu	37	chr7	769393	769393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtggccgccattgaagCcacaggcgcagtgatccatt	12	13	0	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr7:769393C>T	ENST00000297440.6	+	2	709	c.689C>T	c.(688-690)gCc>gTc	p.A230V	PRKAR1B_ENST00000537384.1_5'Flank|HEATR2_ENST00000313147.5_Missense_Mutation_p.A230V|HEATR2_ENST00000438961.1_3'UTR|PRKAR1B_ENST00000403562.1_5'Flank|PRKAR1B_ENST00000488474.1_5'Flank	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	230						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GCCATTGAAGCCACAGGCGCA	0.582																																																	0								ENSG00000164818						111	88	96					7																	769393		2203	4300	6503	HEATR2	SO:0001583	missense	0			-	HGNC	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.689C>T	7.37:g.769393C>T	ENSP00000297440:p.Ala230Val	Somatic	0	75	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A230V	ENST00000297440.6	37	c.689	CCDS34580.1	7	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769632	0.90020	.	.	ENSG00000164818	ENST00000297440;ENST00000313147	T;T	0.28069	1.63;1.63	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.60843	0.2300	M	0.85197	2.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.67725	0.953	T	0.67933	-0.5542	10	0.72032	D	0.01	-33.9698	18.7191	0.91686	0.0:1.0:0.0:0.0	.	230	Q86Y56	HEAT2_HUMAN	V	230	ENSP00000297440:A230V;ENSP00000321451:A230V	ENSP00000297440:A230V	A	+	2	0	HEATR2	735919	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.035000	0.76517	2.420000	0.82092	0.655000	0.94253	GCC	-	superfamily_ARM-type_fold		0.582	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR2	protein_coding	OTTHUMT00000322542.1	C	NM_017802	-		769393	1	no_errors	ENST00000297440	ensembl	human	known	74_37	missense	SNP	1.000	T	T	769393	C	T	769393	3	4	132	1	0	0	0	0	1	0	0	0	7030	739	26	2	695	2	HEATR2	7	769393	Missense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09		769393	158369270	27	10070											
ABCB5	340273	genome.wustl.edu	37	chr7	20739461	20739461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagatgtttggaaataAtgataaaaccacattaaagc	6	5	1	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr7:20739461A>G	ENST00000404938.2	+	18	2820	c.2168A>G	c.(2167-2169)aAt>aGt	p.N723S	ABCB5_ENST00000258738.6_Missense_Mutation_p.N278S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	723	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTGGAAATAATGATAAAACC	0.303																																																	0								ENSG00000004846						122	116	118					7																	20739461		2203	4298	6501	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2168A>G	7.37:g.20739461A>G	ENSP00000384881:p.Asn723Ser	Somatic	0	111	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.N278S	ENST00000404938.2	37	c.833	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	A	0.838	-0.742896	0.03088	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.80123	-1.34;-1.34	5.51	4.34	0.51931	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.237090	0.06335	U	0.706850	T	0.71685	0.3369	N	0.25426	0.745	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.25987	0.016;0.065	T	0.55661	-0.8106	10	0.15499	T	0.54	.	9.9674	0.41732	0.9167:0.0:0.0833:0.0	.	723;278	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	S	723;278	ENSP00000384881:N723S;ENSP00000258738:N278S	ENSP00000258738:N278S	N	+	2	0	ABCB5	20705986	0.040000	0.19996	0.779000	0.31741	0.287000	0.27160	1.635000	0.37134	2.087000	0.62958	0.397000	0.26171	AAT	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.303	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	A	NM_178559	-		20739461	1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	0.409	G	G	20739461	A	G	20739461	3	3	132	1	0	0	0	0	1	0	0	0	44	101	4	5	2275	5	ABCB5	7	20739461	Missense_Mutation	SNP	A	TCGA-DX-AB3A-01A-11D-A417-09	19970068	20739461	138399202	28	10071											
STEAP2	261729	genome.wustl.edu	37	chr7	89854616	89854616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaattttttcctcatgtgGtagatgtcactcatcatgaa	7	8	4	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr7:89854616G>T	ENST00000287908.3	+	2	613	c.220G>T	c.(220-222)Gta>Tta	p.V74L	STEAP2_ENST00000394622.2_Missense_Mutation_p.V74L|STEAP2_ENST00000394629.2_Missense_Mutation_p.V74L|STEAP2_ENST00000402625.2_Missense_Mutation_p.V74L|STEAP2_ENST00000394632.1_Missense_Mutation_p.V74L|STEAP2_ENST00000394626.1_Missense_Mutation_p.V74L|STEAP2_ENST00000394621.2_Missense_Mutation_p.V74L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	74					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)					TCCTCATGTGGTAGATGTCAC	0.378																																																	0								ENSG00000157214						185	165	172					7																	89854616		2203	4300	6503	STEAP2	SO:0001583	missense	0			-	HGNC	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.220G>T	7.37:g.89854616G>T	ENSP00000287908:p.Val74Leu	Somatic	0	53	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP							pfam_Fe3_Rdtase_TM_dom	p.V74L	ENST00000287908.3	37	c.220	CCDS5615.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.096264	0.94197	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000426158;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.83	5.83	0.93111	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.51914	1.62	0.58432	D	0.999995	D;D;D;D	0.54397	0.958;0.966;0.964;0.964	P;P;P;P	0.58820	0.763;0.846;0.783;0.783	T	0.62067	-0.6932	10	0.66056	D	0.02	-19.5146	20.1338	0.98010	0.0:0.0:1.0:0.0	.	74;74;74;74	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	74	ENSP00000401783:V74L;ENSP00000287908:V74L;ENSP00000378123:V74L;ENSP00000378120:V74L;ENSP00000378128:V74L;ENSP00000415931:V74L;ENSP00000378119:V74L;ENSP00000384191:V74L;ENSP00000378125:V74L	ENSP00000287908:V74L	V	+	1	0	STEAP2	89692552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.325000	0.72901	2.770000	0.95276	0.655000	0.94253	GTA	-	NULL		0.378	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	protein_coding	OTTHUMT00000059662.4	G	NM_152999	-		89854616	1	no_errors	ENST00000287908	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89854616	G	T	89854616	3	4	132	1	0	0	0	0	1	0	0	0	15285	1261	44	3	222	3	STEAP2	7	89854616	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	69115155	89854616	69284047	29	10072											
EPHA1	2041	genome.wustl.edu	37	chr7	143095499	143095499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagctctagttgcctcGgttctttcttcaccagtctc	8	13	6	0	rs202178565		TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr7:143095499G>A	ENST00000275815.3	-	7	1465	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|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 cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TAGTTGCCTCGGTTCTTTCTT	0.552																																																	0								ENSG00000146904						53	56	55					7																	143095499		2203	4300	6503	EPHA1	SO:0001583	missense	0			-	HGNC	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1379C>T	7.37:g.143095499G>A	ENSP00000275815:p.Pro460Leu	Somatic	0	57	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P460L	ENST00000275815.3	37	c.1379	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871811	0.51695	.	.	ENSG00000146904	ENST00000275815	T	0.58506	0.33	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.232852	0.30840	N	0.008774	T	0.69477	0.3115	M	0.65498	2.005	0.40858	D	0.983818	D	0.76494	0.999	P	0.62089	0.898	T	0.70583	-0.4832	10	0.44086	T	0.13	.	12.122	0.53897	0.0:0.173:0.827:0.0	.	460	P21709	EPHA1_HUMAN	L	460	ENSP00000275815:P460L	ENSP00000275815:P460L	P	-	2	0	EPHA1	142805621	0.062000	0.20869	0.914000	0.36105	0.937000	0.57800	1.072000	0.30678	2.517000	0.84864	0.655000	0.94253	CCG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	protein_coding	OTTHUMT00000342154.1	G		rs202178565		143095499	-1	no_errors	ENST00000275815	ensembl	human	known	74_37	missense	SNP	0.686	A	A	143095499	G	A	143095499	3	1	132	1	0	0	0	0	1	0	0	0	5167	1116	39	1	1599	1	EPHA1	7	143095499	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	53240883	143095499	16043164	30	10073											
PLEC	5339	genome.wustl.edu	37	chr8	144992885	144992910	+	Frame_Shift_Del	DEL	GCCTGGAACCGGGCAGGTAGACACCA	GCCTGGAACCGGGCAGGTAGACACCA	-													ctggtagatgctcagtgtctGcctggaaccgggcaggtaga					rs368558825|rs17062686|rs374177544|rs372372955	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	GCCTGGAACCGGGCAGGTAGACACCA	GCCTGGAACCGGGCAGGTAGACACCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr8:144992885_144992910delGCCTGGAACCGGGCAGGTAGACACCA	ENST00000322810.4	-	32	11659_11684	c.11490_11515delTGGTGTCTACCTGCCCGGTTCCAGGC	c.(11488-11517)gctggtgtctacctgcccggttccaggcagfs	p.GVYLPGSRQ3831fs	PLEC_ENST00000356346.3_Frame_Shift_Del_p.GVYLPGSRQ3680fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.GVYLPGSRQ3717fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.GVYLPGSRQ3698fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.GVYLPGSRQ3662fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.GVYLPGSRQ3694fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.GVYLPGSRQ3672fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.GVYLPGSRQ3694fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.GVYLPGSRQ3721fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3831	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)	p.P3835P(1)		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						CTCAGTGTCTGCCTGGAACCGGGCAGGTAGACACCAGCCACGGAGC	0.655																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						ENSG00000178209																																			PLEC	SO:0001589	frameshift_variant	0				HGNC	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.11490_11515delTGGTGTCTACCTGCCCGGTTCCAGGC	8.37:g.144992885_144992910delGCCTGGAACCGGGCAGGTAGACACCA	ENSP00000323856:p.Gly3831fs	Somatic					0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.G3831fs	ENST00000322810.4	37	c.11515_11490	CCDS43772.1	8																																																																																			-	pfam_Plectin_repeat,smart_Plectin_repeat		0.655	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	GCCTGGAACCGGGCAGGTAGACACCA	NM_000445			144992910	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.997:0.998:0.999:0.999:1.000:0.998:0.994:0.991:0.879:0.018:0.509:0.484:0.206:0.181:0.005:0.013:0.254:0.266:0.222:0.313:0.008:0.009:0.996:0.996:0.009	-	-	144992910	GCCTGGAACCGGGCAGGTAGACACCA	-	144992885	7	5	132	1	0	1	0	1	0	0	0	0	12054	1328	46	0	2543	0	PLEC	8	144992885	Frame_Shift_Del	DEL	GCCTGGAACCGGGCAGGTAGACACCA	TCGA-DX-AB3A-01A-11D-A417-09		144992885	1371137	31	10074											
APBA1	320	genome.wustl.edu	37	chr9	72071280	72071280	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcatccgccggcgggccatCagcacaacgatgttcccaat	11	15	1	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr9:72071280C>T	ENST00000265381.4	-	8	1893	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	557	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCGGGCCATCAGCACAACGA	0.582																																																	0								ENSG00000107282						247	231	237					9																	72071280		2203	4300	6503	APBA1	SO:0001819	synonymous_variant	0			-	HGNC	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1671G>A	9.37:g.72071280C>T		Somatic	0	77	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	O14914|O60570|Q5VYR8	Silent	SNP							pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.L557	ENST00000265381.4	37	c.1671	CCDS6630.1	9																																																																																			-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.582	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	protein_coding	OTTHUMT00000052589.2	C	NM_001163	-		72071280	-1	no_errors	ENST00000265381	ensembl	human	known	74_37	silent	SNP	0.998	T	T	72071280	C	T	72071280	2	4	132	1	0	0	0	0	0	0	0	1	756	813	29	2		2	APBA1	9	72071280	Silent	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09		72071280	69142151	32	10075											
ISCA1	81689	genome.wustl.edu	37	chr9	88886926	88886926	+	Frame_Shift_Del	DEL	T	T	-													tttgttaaaaactcaccatcTtgaataacttcttcatcaga							TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr9:88886926delT	ENST00000375991.4	-	3	307	c.237delA	c.(235-237)caafs	p.Q79fs	ISCA1_ENST00000326094.4_Frame_Shift_Del_p.Q79fs|ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Frame_Shift_Del_p.Q126fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	79					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		ACTCACCATCTTGAATAACTT	0.353																																																	0								ENSG00000135070						123	119	121					9																	88886926		2203	4300	6503	ISCA1	SO:0001589	frameshift_variant	0				HGNC	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"HESB like domain containing 2", "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.237delA	9.37:g.88886926delT	ENSP00000365159:p.Gln79fs	Somatic	0	119	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	B3KP34|B4DJI5|Q8ND75|Q9BZR2	Frame_Shift_Del	DEL							pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion	p.D127fs	ENST00000375991.4	37	c.378	CCDS35056.1	9																																																																																			-	pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion		0.353	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISCA1	protein_coding	OTTHUMT00000052914.1	T	NM_030940			88886926	-1	no_errors	ENST00000452279	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88886926	T	-	88886926	7	5	132	1	0	1	0	1	0	0	0	0	7851	1606	56	0	160	0	ISCA1	9	88886926	Frame_Shift_Del	DEL	T	TCGA-DX-AB3A-01A-11D-A417-09	16815646	88886926	52326505	33	10076	167	3									
ISCA1	81689	genome.wustl.edu	37	chr9	88886929	88886929	+	Frame_Shift_Del	DEL	A	A	-													gttaaaaactcaccatcttgAataacttcttcatcagaatc							TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr9:88886929delA	ENST00000375991.4	-	3	304	c.234delT	c.(232-234)attfs	p.I78fs	ISCA1_ENST00000326094.4_Frame_Shift_Del_p.I78fs|ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Frame_Shift_Del_p.I125fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	78					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		CACCATCTTGAATAACTTCTT	0.363																																																	0								ENSG00000135070						125	121	122					9																	88886929		2203	4300	6503	ISCA1	SO:0001589	frameshift_variant	0				HGNC	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"HESB like domain containing 2", "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.234delT	9.37:g.88886929delA	ENSP00000365159:p.Ile78fs	Somatic	0	122	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	65	16.67	B3KP34|B4DJI5|Q8ND75|Q9BZR2	Frame_Shift_Del	DEL							pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion	p.Q126fs	ENST00000375991.4	37	c.375	CCDS35056.1	9																																																																																			-	pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion		0.363	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISCA1	protein_coding	OTTHUMT00000052914.1	A	NM_030940			88886929	-1	no_errors	ENST00000452279	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	88886929	A	-	88886929	7	5	132	1	0	1	0	1	0	0	0	0	7851	242	9	0	163	0	ISCA1	9	88886929	Frame_Shift_Del	DEL	A	TCGA-DX-AB3A-01A-11D-A417-09	3	88886929	52326502	34	10077	167	3									
ISCA1	81689	genome.wustl.edu	37	chr9	88886934	88886943	+	Frame_Shift_Del	DEL	CTTCTTCATC	CTTCTTCATC	-													aaactcaccatcttgaataaCttcttcatcagaatctcctt							TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	CTTCTTCATC	CTTCTTCATC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr9:88886934_88886943delCTTCTTCATC	ENST00000375991.4	-	3	290_299	c.220_229delGATGAAGAAG	c.(220-231)gatgaagaagttfs	p.DEEV74fs	ISCA1_ENST00000326094.4_Frame_Shift_Del_p.DEEV74fs|ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000452279.2_Frame_Shift_Del_p.DEEV121fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	74					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		TCTTGAATAACTTCTTCATCAGAATCTCCT	0.348																																																	0								ENSG00000135070																																			ISCA1	SO:0001589	frameshift_variant	0				HGNC	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"HESB like domain containing 2", "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.220_229delGATGAAGAAG	9.37:g.88886934_88886943delCTTCTTCATC	ENSP00000365159:p.Asp74fs	Somatic					0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3KP34|B4DJI5|Q8ND75|Q9BZR2	Frame_Shift_Del	DEL							pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion	p.D121fs	ENST00000375991.4	37	c.370_361	CCDS35056.1	9																																																																																			-	pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion		0.348	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISCA1	protein_coding	OTTHUMT00000052914.1	CTTCTTCATC	NM_030940			88886943	-1	no_errors	ENST00000452279	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	88886943	CTTCTTCATC	-	88886934	7	5	132	1	0	1	0	1	0	0	0	0	7851	565	20	0	168	0	ISCA1	9	88886934	Frame_Shift_Del	DEL	CTTCTTCATC	TCGA-DX-AB3A-01A-11D-A417-09	5	88886934	52326497	35	10078	167	3									
PTGS1	5742	genome.wustl.edu	37	chr9	125148995	125148995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtggatgccttctctcGccagattgctggccgggtaa	13	12	1	1	rs144142084		TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr9:125148995G>T	ENST00000362012.2	+	9	1285	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	AL162424.1_ENST00000600713.1_5'Flank|PTGS1_ENST00000373698.5_Missense_Mutation_p.R318L|PTGS1_ENST00000540753.1_Intron|PTGS1_ENST00000223423.4_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	427					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCTTCTCTCGCCAGATTGCT	0.577																																																	0								ENSG00000095303						75	64	68					9																	125148995		2203	4300	6503	PTGS1	SO:0001583	missense	0			-	HGNC	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1280G>T	9.37:g.125148995G>T	ENSP00000354612:p.Arg427Leu	Somatic	0	50	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R427L	ENST00000362012.2	37	c.1280	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665404	0.29604	.	.	ENSG00000095303	ENST00000362012;ENST00000373698	T;T	0.68624	-0.34;-0.34	5.01	4.12	0.48240	.	0.362967	0.27535	N	0.018934	T	0.57784	0.2077	L	0.59436	1.845	0.36613	D	0.875315	B	0.14012	0.009	B	0.16722	0.016	T	0.60949	-0.7161	10	0.59425	D	0.04	-17.9876	4.0825	0.09932	0.2483:0.0:0.584:0.1676	.	427	P23219	PGH1_HUMAN	L	427;318	ENSP00000354612:R427L;ENSP00000362802:R318L	ENSP00000354612:R427L	R	+	2	0	PTGS1	124188816	0.981000	0.34729	1.000000	0.80357	0.671000	0.39405	0.828000	0.27435	1.113000	0.41760	-0.140000	0.14226	CGC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.577	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	protein_coding	OTTHUMT00000053933.1	G		-		125148995	1	no_errors	ENST00000362012	ensembl	human	known	74_37	missense	SNP	0.939	T	T	125148995	G	T	125148995	3	4	132	1	0	0	0	0	1	0	0	0	12761	1087	38	3	1314	3	PTGS1	9	125148995	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	36262061	125148995	16064436	36	10079											
EPC1	80314	genome.wustl.edu	37	chr10	32582546	32582546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accactgcctttttctaggcGgtcaatcatctcctcaaatt	5	13	5	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr10:32582546G>T	ENST00000263062.8	-	3	702	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	EPC1_ENST00000375110.2_Missense_Mutation_p.R95S|EPC1_ENST00000319778.6_Missense_Mutation_p.R145S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	145					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTTCTAGGCGGTCAATCATC	0.348																																																	0								ENSG00000120616						73	71	72					10																	32582546		2203	4300	6503	EPC1	SO:0001583	missense	0			-	HGNC	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.433C>A	10.37:g.32582546G>T	ENSP00000263062:p.Arg145Ser	Somatic	0	40	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP							pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.R145S	ENST00000263062.8	37	c.433	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001091	0.74818	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.48522	0.81;0.81;0.81	5.67	4.77	0.60923	Enhancer of polycomb-like, N-terminal (1);	0.050310	0.85682	D	0.000000	T	0.63414	0.2509	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;1.0;0.995	D;D;D;D	0.87578	0.963;0.998;0.998;0.947	T	0.64466	-0.6401	10	0.52906	T	0.07	-8.778	10.8613	0.46829	0.0685:0.0:0.8012:0.1303	.	145;95;145;145	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	95;145;145	ENSP00000364251:R95S;ENSP00000318559:R145S;ENSP00000263062:R145S	ENSP00000263062:R145S	R	-	1	0	EPC1	32622552	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.445000	0.66594	1.408000	0.46895	0.467000	0.42956	CGC	-	pfam_Enhancer_polycomb-like_N		0.348	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	protein_coding	OTTHUMT00000047484.1	G		-		32582546	-1	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32582546	G	T	32582546	3	4	132	1	0	0	0	0	1	0	0	0	5162	1116	39	3	2129	3	EPC1	10	32582546	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		32582546	102952201	37	10080											
CTBP2	1488	genome.wustl.edu	37	chr10	126715159	126715160	+	Intron	INS	-	-	GCCGCAGGCTGGGGCTGCAGG													gggatgctgtctgcagaggaINSgccgcagcgcccagagaagc					rs529129641|rs372118432	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr10:126715159_126715160insGCCGCAGGCTGGGGCTGCAGG	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_In_Frame_Ins_p.390_390A>ALQPQPAA|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCTGCAGAGGAGCCGCAGCGCC	0.698														537	0.107228	0.1006	0.2478	5008	,	,		14420	0.0417		0.1093	False		,,,				2504	0.0818																0								ENSG00000175029		,,	295,3727		33,229,1749					,,	-1.1	0			8	694,7122		93,508,3307	no	coding,intron,intron	CTBP2	NM_022802.2,NM_001329.2,NM_001083914.1	,,	126,737,5056	A1A1,A1R,RR		8.8792,7.3347,8.3545	,,	,,		989,10849				CTBP2	SO:0001627	intron_variant	0				HGNC	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12405->CCTGCAGCCCCAGCCTGCGGC	10.37:g.126715159_126715160insGCCGCAGGCTGGGGCTGCAGG		Somatic					0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	In_Frame_Ins	INS							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.391in_frame_insLQPQPAA	ENST00000337195.5	37	c.1170_1169	CCDS7643.1	10																																																																																			-	NULL		0.698	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	protein_coding	OTTHUMT00000050900.3	-	NM_001083914			126715160	-1	no_errors	ENST00000309035	ensembl	human	known	74_37	in_frame_ins	INS	0.257:0.112	GCCGCAGGCTGGGGCTGCAGG	GCCGCAGGCTGGGGCTGCAGG	126715160	-	GCCGCAGGCTGGGGCTGCAGG	126715159	6	5	132	0	1	1	1	0	0	0	0	0	4000	291	11	0		0	CTBP2	10	126715159	Intron	INS	-	TCGA-DX-AB3A-01A-11D-A417-09	94132613	126715159	8819588	38	10081											
OR4S1	256148	genome.wustl.edu	37	chr11	48328685	48328685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgtttagggtcaagaGgagcttaggggagaagtgac	17	4	1	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr11:48328685G>T	ENST00000319988.1	+	1	911	c.911G>T	c.(910-912)aGg>aTg	p.R304M		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	304						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(12)|ovary(1)|skin(3)	21						AGGGTCAAGAGGAGCTTAGGG	0.423																																																	0								ENSG00000176555						47	46	46					11																	48328685		2201	4298	6499	OR4S1	SO:0001583	missense	0			-	HGNC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.911G>T	11.37:g.48328685G>T	ENSP00000321447:p.Arg304Met	Somatic	0	30	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q6IFB4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R304M	ENST00000319988.1	37	c.911	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631413	0.14322	.	.	ENSG00000176555	ENST00000319988	T	0.38887	1.11	4.72	-4.45	0.03546	.	.	.	.	.	T	0.22589	0.0545	N	0.25992	0.78	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.22977	-1.0201	9	0.21014	T	0.42	.	5.6451	0.17584	0.3393:0.0:0.4544:0.2063	.	304	Q8NGB4	OR4S1_HUMAN	M	304	ENSP00000321447:R304M	ENSP00000321447:R304M	R	+	2	0	OR4S1	48285261	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.896000	0.04114	-0.968000	0.03578	-0.797000	0.03246	AGG	-	NULL		0.423	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	protein_coding	OTTHUMT00000390556.1	G	NM_001004725	-		48328685	1	no_errors	ENST00000319988	ensembl	human	known	74_37	missense	SNP	0.000	T	T	48328685	G	T	48328685	3	4	132	1	0	0	0	0	1	0	0	0	11084	1000	35	3	913	3	OR4S1	11	48328685	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		48328685	86677831	39	10082											
ERBB3	2065	genome.wustl.edu	37	chr12	56486837	56486837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttttccaatttgacaacCattggaggcagaagcctcta	8	9	1	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr12:56486837C>T	ENST00000267101.3	+	11	1691	c.1251C>T	c.(1249-1251)acC>acT	p.T417T	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.T358T	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	417					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATTTGACAACCATTGGAGGCA	0.473																																																	0								ENSG00000065361						71	70	71					12																	56486837		2203	4300	6503	ERBB3	SO:0001819	synonymous_variant	0			-	HGNC	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1251C>T	12.37:g.56486837C>T		Somatic	0	66	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	43.75	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T417	ENST00000267101.3	37	c.1251	CCDS31833.1	12																																																																																			-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L		0.473	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	protein_coding	OTTHUMT00000407619.3	C		-		56486837	1	no_errors	ENST00000267101	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56486837	C	T	56486837	2	4	132	1	0	0	0	0	0	0	0	1	5210	581	21	2		2	ERBB3	12	56486837	Silent	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09		56486837	77365058	40	10083											
TRHDE	29953	genome.wustl.edu	37	chr12	73050729	73050729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagcattgtttatgAattccaaactcatcagtggt	9	6	2	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr12:73050729A>G	ENST00000261180.4	+	18	2968	c.2872A>G	c.(2872-2874)Aat>Gat	p.N958D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	958				N -> Y (in Ref. 2; AAQ89125). {ECO:0000305}.	cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTGTTTATGAATTCCAAACT	0.264																																																	0								ENSG00000072657						83	93	89					12																	73050729		2203	4298	6501	TRHDE	SO:0001583	missense	0			-	HGNC	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2872A>G	12.37:g.73050729A>G	ENSP00000261180:p.Asn958Asp	Somatic	0	158	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	91	14.15	A5PL19|Q6UWJ4	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.N958D	ENST00000261180.4	37	c.2872	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437620	0.83885	.	.	ENSG00000072657	ENST00000261180	T	0.05199	3.48	5.2	5.2	0.72013	.	0.048592	0.85682	D	0.000000	T	0.17365	0.0417	L	0.44542	1.39	0.58432	D	0.999999	D	0.64830	0.994	D	0.64506	0.926	T	0.00357	-1.1792	10	0.72032	D	0.01	.	15.3904	0.74739	1.0:0.0:0.0:0.0	.	958	Q9UKU6	TRHDE_HUMAN	D	958	ENSP00000261180:N958D	ENSP00000261180:N958D	N	+	1	0	TRHDE	71336996	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.910000	0.92685	2.090000	0.63153	0.460000	0.39030	AAT	-	NULL		0.264	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	protein_coding	OTTHUMT00000405380.1	A	NM_013381	-		73050729	1	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73050729	A	G	73050729	3	3	132	1	0	0	0	0	1	0	0	0	16486	246	9	5	2942	5	TRHDE	12	73050729	Missense_Mutation	SNP	A	TCGA-DX-AB3A-01A-11D-A417-09	16563892	73050729	60801166	41	10084											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85546891	85546891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatgacaaagaaaatttGtcttcttcagaacacacaca	5	8	3	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr12:85546891G>A	ENST00000393217.2	+	21	4570	c.4509G>A	c.(4507-4509)ttG>ttA	p.L1503L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1503										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGAAAATTTGTCTTCTTCAG	0.303																																																	0								ENSG00000133640						91	87	88					12																	85546891		1827	4066	5893	LRRIQ1	SO:0001819	synonymous_variant	0			-	HGNC	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4509G>A	12.37:g.85546891G>A		Somatic	0	153	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	1029	57	94.66	Q567P4|Q9BS17|Q9HA36	Silent	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.L1503	ENST00000393217.2	37	c.4509	CCDS41816.1	12																																																																																			-	NULL		0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	G	NM_032165	-		85546891	1	no_errors	ENST00000393217	ensembl	human	known	74_37	silent	SNP	0.018	A	A	85546891	G	A	85546891	2	1	132	1	0	0	0	0	0	0	0	1	9031	1368	48	2		2	LRRIQ1	12	85546891	Silent	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	12496162	85546891	48305004	42	10085											
KSR2	283455	genome.wustl.edu	37	chr12	118199117	118199117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcccgggtaggcgtccaCggtaagcctgtccacgtggg	15	13	0	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr12:118199117C>T	ENST00000339824.5	-	4	1412	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	KSR2_ENST00000425217.1_Missense_Mutation_p.V200M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	229	Pro-rich.				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)			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)					TAGGCGTCCACGGTAAGCCTG	0.726																																																	0								ENSG00000171435						14	17	16					12																	118199117		1860	4070	5930	KSR2	SO:0001583	missense	0			-	HGNC	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.685G>A	12.37:g.118199117C>T	ENSP00000339952:p.Val229Met	Somatic	0	71	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	39	29.09	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.V229M	ENST00000339824.5	37	c.685		12	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857650	0.71834	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.56444	0.46;0.46	5.16	5.16	0.70880	.	0.251641	0.33253	N	0.005109	T	0.46092	0.1375	L	0.44542	1.39	0.45464	D	0.998433	B	0.30709	0.291	B	0.21917	0.037	T	0.40997	-0.9533	10	0.38643	T	0.18	.	18.2313	0.89936	0.0:1.0:0.0:0.0	.	229	Q6VAB6	KSR2_HUMAN	M	200;229	ENSP00000389715:V200M;ENSP00000339952:V229M	ENSP00000339952:V229M	V	-	1	0	KSR2	116683500	1.000000	0.71417	0.922000	0.36590	0.405000	0.30901	7.404000	0.79996	2.385000	0.81259	0.491000	0.48974	GTG	-	NULL		0.726	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	C	NM_173598	-		118199117	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118199117	C	T	118199117	3	4	132	1	0	0	0	0	1	0	0	0	8584	536	19	1	2235	1	KSR2	12	118199117	Missense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	32652226	118199117	15652778	43	10086											
TM9SF2	9375	genome.wustl.edu	37	chr13	100199256	100199256	+	Frame_Shift_Del	DEL	T	T	-													tagttttcgcttgcctgggaTttttgtcacctgccaaccga							TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr13:100199256delT	ENST00000376387.4	+	11	1358	c.1168delT	c.(1168-1170)tttfs	p.F390fs		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	390					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TTGCCTGGGATTTTTGTCACC	0.473																																																	0								ENSG00000125304						155	145	148					13																	100199256		2203	4300	6503	TM9SF2	SO:0001589	frameshift_variant	0				HGNC	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1168delT	13.37:g.100199256delT	ENSP00000365567:p.Phe390fs	Somatic	0	26	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A8K399|Q2TAY5	Frame_Shift_Del	DEL							pfam_EMP70	p.L391fs	ENST00000376387.4	37	c.1168	CCDS9493.1	13																																																																																			-	pfam_EMP70		0.473	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	protein_coding	OTTHUMT00000045602.3	T				100199256	1	no_errors	ENST00000376387	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	100199256	T	-	100199256	7	5	132	1	0	1	0	1	0	0	0	0	15985	1493	52	0	1210	0	TM9SF2	13	100199256	Frame_Shift_Del	DEL	T	TCGA-DX-AB3A-01A-11D-A417-09		100199256	14970622	44	10087											
SALL2	6297	genome.wustl.edu	37	chr14	21992685	21992685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctcacccgtgtgggaacGaaggtggatctgcagggcac	14	12	2	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr14:21992685G>A	ENST00000327430.3	-	2	1471	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.R256C|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	393					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.R393C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTGTGGGAACGAAGGTGGATC	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000165821						110	97	102					14																	21992685		2203	4300	6503	SALL2	SO:0001583	missense	0			-	HGNC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1177C>T	14.37:g.21992685G>A	ENSP00000333537:p.Arg393Cys	Somatic	0	22	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R393C	ENST00000327430.3	37	c.1177	CCDS32045.1	14	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174268	0.57692	.	.	ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876	T;T	0.25749	1.78;1.78	4.3	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38605	N	0.001638	T	0.46756	0.1409	M	0.72894	2.215	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.358;1.0	D;D;B;D	0.87578	0.995;0.995;0.111;0.998	T	0.45731	-0.9241	10	0.87932	D	0	-24.515	9.89	0.41285	0.1005:0.0:0.8995:0.0	.	256;256;391;393	B4DK65;E7EW59;B4DFD9;Q9Y467	.;.;.;SALL2_HUMAN	C	393;256;393	ENSP00000333537:R393C;ENSP00000396773:R256C	ENSP00000333537:R393C	R	-	1	0	SALL2	21062525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.657000	0.98554	1.031000	0.39867	-0.136000	0.14681	CGT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.542	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	protein_coding	OTTHUMT00000401242.1	G	NM_005407	-		21992685	-1	no_errors	ENST00000327430	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21992685	G	A	21992685	3	1	132	1	0	0	0	0	1	0	0	0	13819	1058	37	1	1850	1	SALL2	14	21992685	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		21992685	85356855	45	10088											
KIF26A	26153	genome.wustl.edu	37	chr14	104646007	104646007	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggccctggagcgagcCacggcggccctggagcagtg	18	14	0	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr14:104646007C>A	ENST00000423312.2	+	15	5529	c.5529C>A	c.(5527-5529)gcC>gcA	p.A1843A	KIF26A_ENST00000315264.7_Silent_p.A1704A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1843					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGAGCGAGCCACGGCGGCCC	0.692																																																	0								ENSG00000066735						11	15	14					14																	104646007		1883	3817	5700	KIF26A	SO:0001819	synonymous_variant	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.5529C>A	14.37:g.104646007C>A		Somatic	0	39	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.A1843	ENST00000423312.2	37	c.5529	CCDS45171.1	14																																																																																			-	NULL		0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	C		-		104646007	1	no_errors	ENST00000423312	ensembl	human	known	74_37	silent	SNP	1.000	A	A	104646007	C	A	104646007	2	1	132	1	0	0	0	0	0	0	0	1	8296	581	21	3		3	KIF26A	14	104646007	Silent	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	82653322	104646007	2703533	46	10089											
VPS13C	54832	genome.wustl.edu	37	chr15	62234079	62234079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgattaaacccagatctGctataacagcattaggtgat	7	9	2	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr15:62234079G>C	ENST00000261517.5	-	46	5409	c.5336C>G	c.(5335-5337)gCa>gGa	p.A1779G	VPS13C_ENST00000395898.3_Missense_Mutation_p.A1736G|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1736G|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1779G	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						ACCCAGATCTGCTATAACAGC	0.363																																																	0								ENSG00000129003						83	83	83					15																	62234079		2203	4300	6503	VPS13C	SO:0001583	missense	0			-	HGNC	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.5336C>G	15.37:g.62234079G>C	ENSP00000261517:p.Ala1779Gly	Somatic	0	79	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.20		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A1779G	ENST00000261517.5	37	c.5336	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087743	0.76642	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.15487	2.42;2.42;2.42	5.09	5.09	0.68999	.	0.186729	0.48767	D	0.000170	T	0.46908	0.1417	M	0.83953	2.67	0.52099	D	0.999946	D;D;D;D	0.69078	0.962;0.995;0.995;0.997	P;D;D;D	0.69142	0.878;0.962;0.962;0.947	T	0.53143	-0.8480	10	0.87932	D	0	.	18.8527	0.92238	0.0:0.0:1.0:0.0	.	1736;1779;1736;1779	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	G	1736;1779;1779;1779	ENSP00000249837:A1736G;ENSP00000261517:A1779G;ENSP00000379233:A1779G	ENSP00000249837:A1736G	A	-	2	0	VPS13C	60021371	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	5.010000	0.64004	2.533000	0.85409	0.655000	0.94253	GCA	-	NULL		0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	G	NM_017684	-		62234079	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62234079	G	C	62234079	3	2	132	1	0	0	0	0	1	0	0	0	17198	1319	46	4	6113	4	VPS13C	15	62234079	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		62234079	40297313	47	10090											
MFGE8	4240	genome.wustl.edu	37	chr15	89450444	89450444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggatccaggggttatcGtcattgctgctgggtgtcca	13	10	1	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr15:89450444G>T	ENST00000566497.1	-	3	430	c.369C>A	c.(367-369)gaC>gaA	p.D123E	MFGE8_ENST00000268150.8_Missense_Mutation_p.D123E|MFGE8_ENST00000539437.1_Missense_Mutation_p.D115E|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268151.7_Missense_Mutation_p.D123E|MFGE8_ENST00000542878.1_Missense_Mutation_p.D79E			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	123	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGGGGTTATCGTCATTGCTGC	0.607																																																	0								ENSG00000140545						71	56	61					15																	89450444		2200	4299	6499	MFGE8	SO:0001583	missense	0			-	HGNC	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.369C>A	15.37:g.89450444G>T	ENSP00000456281:p.Asp123Glu	Somatic	0	35	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.D123E	ENST00000566497.1	37	c.369	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	g	9.730	1.162061	0.21538	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-1.83	5.45	-3.01	0.05463	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.84326	2.69	0.39274	D	0.964436	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	0.97110	0.997;0.999;1.0;1.0;0.994;0.997	D	0.96802	0.9590	10	0.40728	T	0.16	-62.0991	13.3201	0.60428	0.4721:0.0:0.5279:0.0	.	115;79;79;115;123;123	B3KTQ2;F5GZN3;B4E396;F5H7N9;Q08431-3;Q08431	.;.;.;.;.;MFGM_HUMAN	E	123;123;115;79	ENSP00000268150:D123E;ENSP00000268151:D123E;ENSP00000442386:D115E;ENSP00000444332:D79E	ENSP00000268150:D123E	D	-	3	2	MFGE8	87251448	1.000000	0.71417	0.003000	0.11579	0.000000	0.00434	1.474000	0.35398	-1.013000	0.03383	-1.439000	0.01073	GAC	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.607	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	protein_coding	OTTHUMT00000432804.1	G	NM_005928	-		89450444	-1	no_errors	ENST00000268150	ensembl	human	known	74_37	missense	SNP	0.272	T	T	89450444	G	T	89450444	3	4	132	1	0	0	0	0	1	0	0	0	9522	1136	40	3	818	3	MFGE8	15	89450444	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	27216365	89450444	13080948	48	10091											
CA4	762	genome.wustl.edu	37	chr17	58235772	58235772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaggtcgtctggactGtgttccgggagcccattcag	14	9	2	1	rs2229178	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr17:58235772G>A	ENST00000300900.4	+	7	808	c.709G>A	c.(709-711)Gtg>Atg	p.V237M		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	237			V -> L (in dbSNP:rs2229178).		bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CGTCTGGACTGTGTTCCGGGA	0.602																																																	0								ENSG00000167434						80	67	72					17																	58235772		2203	4300	6503	CA4	SO:0001583	missense	0			-	HGNC	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.709G>A	17.37:g.58235772G>A	ENSP00000300900:p.Val237Met	Somatic	0	24	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	B4DQA4|Q6FHI7	Missense_Mutation	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V237M	ENST00000300900.4	37	c.709	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316565	0.60524	.	.	ENSG00000167434	ENST00000300900	T	0.80738	-1.41	5.54	5.54	0.83059	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.202895	0.43110	D	0.000602	D	0.91805	0.7407	M	0.92219	3.285	0.51233	D	0.999916	D	0.89917	1.0	D	0.97110	1.0	D	0.93375	0.6738	10	0.87932	D	0	.	14.9783	0.71293	0.0:0.0:1.0:0.0	.	237	P22748	CAH4_HUMAN	M	237	ENSP00000300900:V237M	ENSP00000300900:V237M	V	+	1	0	CA4	55590554	0.982000	0.34865	0.961000	0.40146	0.495000	0.33615	1.752000	0.38349	2.589000	0.87451	0.491000	0.48974	GTG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.602	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	protein_coding	OTTHUMT00000449189.1	G	NM_000717	-		58235772	1	no_errors	ENST00000300900	ensembl	human	known	74_37	missense	SNP	0.977	A	A	58235772	G	A	58235772	3	1	132	1	0	0	0	0	1	0	0	0	2520	1377	48	2	735	2	CA4	17	58235772	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		58235772	22959438	49	10092											
CABLES1	91768	genome.wustl.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-													agggcggcgcggccaagccgGgcgccggcggcgcctgcggc					rs201595073|rs139352344	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	GGCGCCGGC	GGCGCCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137																0								ENSG00000134508																																			CABLES1	SO:0001651	inframe_deletion	0				HGNC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del	Somatic					0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL							pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.GGA99in_frame_del	ENST00000256925.7	37	c.289_297	CCDS42417.1	18																																																																																			-	pirsf_Cdk5/c-Abl_linker_Cables		0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	protein_coding	OTTHUMT00000445198.2	GGCGCCGGC	NM_138375			20716023	1	no_errors	ENST00000256925	ensembl	human	known	74_37	in_frame_del	DEL	0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997	-	-	20716023	GGCGCCGGC	-	20716015	7	5	132	1	0	1	0	1	0	0	0	0	2531	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-DX-AB3A-01A-11D-A417-09		20716015	57361233	50	10093											
MUC16	94025	genome.wustl.edu	37	chr19	9071242	9071242	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgtaagtggccggtcTctcatgagtgatgctgctca	12	9	4	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr19:9071242T>A	ENST00000397910.4	-	3	16407	c.16204A>T	c.(16204-16206)Aga>Tga	p.R5402*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5404	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						GTGGCCGGTCTCTCATGAGTG	0.502																																																	0								ENSG00000181143						393	370	378					19																	9071242		2088	4228	6316	MUC16	SO:0001587	stop_gained	0			-	HGNC	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.16204A>T	19.37:g.9071242T>A	ENSP00000381008:p.Arg5402*	Somatic	0	77	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	37	46.38	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R5402*	ENST00000397910.4	37	c.16204	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	56	27.128994	0.99970	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.38	0.193	0.15139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.5048	0.11881	0.0:0.3313:0.0:0.6687	.	.	.	.	X	5402	.	ENSP00000381008:R5402X	R	-	1	2	MUC16	8932242	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.103000	0.10940	-0.025000	0.13918	0.260000	0.18958	AGA	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	T	NM_024690	-		9071242	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	9071242	T	A	9071242	4	1	132	1	0	0	0	0	0	1	0	0	9975	1559	54	5	27647	5	MUC16	19	9071242	Nonsense_Mutation	SNP	T	TCGA-DX-AB3A-01A-11D-A417-09		9071242	50057741	51	10094											
DPY19L3	147991	genome.wustl.edu	37	chr19	32899229	32899229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagactttccagcccaagaaGaaaatgtgaagttggaaaat	9	6	0	4			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr19:32899229G>C	ENST00000342179.5	+	2	285	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	DPY19L3_ENST00000586987.1_Missense_Mutation_p.E24Q|DPY19L3_ENST00000587077.2_Missense_Mutation_p.E24Q|AC007773.2_ENST00000595727.1_RNA|AC007773.2_ENST00000592680.2_RNA|DPY19L3_ENST00000392250.2_Missense_Mutation_p.E24Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	24						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AGCCCAAGAAGAAAATGTGAA	0.373																																																	0								ENSG00000178904						84	84	84					19																	32899229		2203	4300	6503	DPY19L3	SO:0001583	missense	0			-	HGNC		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.70G>C	19.37:g.32899229G>C	ENSP00000344937:p.Glu24Gln	Somatic	0	115	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	132	22.22	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP							pfam_Dpy-19	p.E24Q	ENST00000342179.5	37	c.70	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332548	0.41297	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179;ENST00000392248	T;T	0.60548	0.18;0.18	5.42	4.38	0.52667	.	0.192982	0.39210	N	0.001425	T	0.39708	0.1088	N	0.24115	0.695	0.24569	N	0.993933	B;P	0.41848	0.001;0.763	B;B	0.39027	0.004;0.288	T	0.26643	-1.0097	10	0.29301	T	0.29	-12.6132	9.4152	0.38517	0.0955:0.0:0.9045:0.0	.	24;24	Q6ZPD9;Q8N6Q4	D19L3_HUMAN;.	Q	24	ENSP00000376081:E24Q;ENSP00000344937:E24Q	ENSP00000315672:E24Q	E	+	1	0	DPY19L3	37591069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.834000	0.48167	2.689000	0.91719	0.650000	0.86243	GAA	-	NULL		0.373	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	protein_coding	OTTHUMT00000450311.1	G	NM_207325	-		32899229	1	no_errors	ENST00000342179	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32899229	G	C	32899229	3	2	132	1	0	0	0	0	1	0	0	0	4744	943	33	4	72	4	DPY19L3	19	32899229	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	23827987	32899229	26229754	52	10095											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51650058	51650058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggggcggtcgggggaGctggagccacagccctggtc	20	11	0	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr19:51650058G>A	ENST00000317643.6	+	5	1144	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A266T	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	359					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGTCGGGGGAGCTGGAGCCAC	0.572																																																	0								ENSG00000168995						99	95	97					19																	51650058		2203	4300	6503	SIGLEC7	SO:0001583	missense	0			-	HGNC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1075G>A	19.37:g.51650058G>A	ENSP00000323328:p.Ala359Thr	Somatic	0	37	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A359T	ENST00000317643.6	37	c.1075	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	15.96	2.985993	0.53934	.	.	ENSG00000168995	ENST00000317643;ENST00000305628	T;T	0.08634	3.07;3.07	2.75	1.63	0.23807	.	1.071740	0.07440	N	0.897080	T	0.23532	0.0569	M	0.87097	2.86	0.18873	N	0.999989	D;D	0.59357	0.963;0.985	B;P	0.53518	0.349;0.728	T	0.10776	-1.0615	10	0.52906	T	0.07	.	6.6314	0.22859	0.0:0.0:0.6992:0.3008	.	266;359	Q9Y286-2;Q9Y286	.;SIGL7_HUMAN	T	359;266	ENSP00000323328:A359T;ENSP00000306757:A266T	ENSP00000306757:A266T	A	+	1	0	SIGLEC7	56341870	0.003000	0.15002	0.002000	0.10522	0.369000	0.29798	0.776000	0.26704	0.451000	0.26802	0.420000	0.28162	GCT	-	NULL		0.572	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	G	NM_016543	-		51650058	1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	SNP	0.005	A	A	51650058	G	A	51650058	3	1	132	1	0	0	0	0	1	0	0	0	14321	971	34	2	1093	2	SIGLEC7	19	51650058	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	18750829	51650058	7478925	53	10096											
LILRA1	11024	genome.wustl.edu	37	chr19	55106778	55106778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccccgtgagcccgagtcGcaggtggtcgtacaggtgct	17	12	0	1	rs10418391	byFrequency	TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr19:55106778G>T	ENST00000251372.3	+	5	754	c.572G>T	c.(571-573)cGc>cTc	p.R191L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R191L	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	191	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGCCCGAGTCGCAGGTGGTCG	0.572																																																	0								ENSG00000104974						152	157	156					19																	55106778		2203	4300	6503	LILRA1	SO:0001583	missense	0			-	HGNC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.572G>T	19.37:g.55106778G>T	ENSP00000251372:p.Arg191Leu	Somatic	0	82	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	45.95	O75018|Q3MJA6	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.R191L	ENST00000251372.3	37	c.572	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294833	0.23564	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.02974	4.09;4.09	2.24	-0.33	0.12683	Immunoglobulin-like fold (1);	1.389240	0.04584	N	0.395426	T	0.03390	0.0098	L	0.37850	1.14	0.09310	N	1	P;B	0.42375	0.778;0.001	B;B	0.43251	0.413;0.002	T	0.32241	-0.9914	10	0.42905	T	0.14	.	2.0528	0.03574	0.5644:0.0:0.1783:0.2573	.	191;191	O75019-2;O75019	.;LIRA1_HUMAN	L	191	ENSP00000251372:R191L;ENSP00000413715:R191L	ENSP00000251372:R191L	R	+	2	0	LILRA1	59798590	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.058000	0.11750	-0.319000	0.08652	0.194000	0.17425	CGC	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	protein_coding	OTTHUMT00000140807.2	G	NM_006863	-		55106778	1	no_errors	ENST00000251372	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55106778	G	T	55106778	3	4	132	1	0	0	0	0	1	0	0	0	8786	1087	38	3	586	3	LILRA1	19	55106778	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	3456720	55106778	4022205	54	10097											
KIR2DL1	3811	genome.wustl.edu	37	chr19	55281331	55281331	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcgtcagcatggcgtGtgttggtgagtcctggaaag	16	7	1	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr19:55281331G>A	ENST00000538269.1	+	1	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.C10Y|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.C10Y|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCATGGCGTGTGTTGGTGAG	0.607											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000125498						124	110	115					19																	55281331		2158	4193	6351	KIR2DL1	SO:0001627	intron_variant	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+45296G>A	19.37:g.55281331G>A		Somatic	0	54	0	1006	0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	7	80.00	O43473|Q14946|Q16541	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub	p.C10Y	ENST00000538269.1	37	c.29		19	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188410	0.06299	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00510	6.9;6.91	0.514	-0.85	0.10720	.	.	.	.	.	T	0.00666	0.0022	M	0.87827	2.91	0.18873	N	0.999989	B;B	0.10296	0.0;0.003	B;B	0.11329	0.002;0.006	T	0.35773	-0.9775	8	0.46703	T	0.11	.	.	.	.	.	10;10	Q6IST4;Q6H2H3	.;.	Y	10	ENSP00000336769:C10Y;ENSP00000291633:C10Y	ENSP00000291633:C10Y	C	+	2	0	KIR2DL1	59973143	0.239000	0.23836	0.098000	0.21074	0.009000	0.06853	0.713000	0.25794	-0.262000	0.09392	-0.552000	0.04208	TGT	-	NULL		0.607	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	protein_coding		G	NM_013289	-		55281331	1	no_errors	ENST00000336077	ensembl	human	known	74_37	missense	SNP	0.960	A	A	55281331	G	A	55281331	1	1	132	0	1	0	0	0	0	0	0	0	8318	1377	48	2		2	KIR2DL1	19	55281331	Intron	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	174553	55281331	3847652	55	10098											
KIAA0406	9675	genome.wustl.edu	37	chr20	36641017	36641017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataaccaagtaacaaggaaAgagtagagaatttgccctgg	11	6	0	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr20:36641017A>G	ENST00000373448.2	-	3	1440	c.1202T>C	c.(1201-1203)cTt>cCt	p.L401P	TTI1_ENST00000373447.3_Missense_Mutation_p.L401P|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.L401P	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	401					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TAACAAGGAAAGAGTAGAGAA	0.473																																																	0								ENSG00000101407						87	90	89					20																	36641017		2203	4300	6503	TTI1	SO:0001583	missense	0			-	HGNC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1202T>C	20.37:g.36641017A>G	ENSP00000362547:p.Leu401Pro	Somatic	0	50	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP							superfamily_ARM-type_fold,pirsf_UCP005250	p.L401P	ENST00000373448.2	37	c.1202	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415384	0.42817	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.26660	1.72;1.72;1.72	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57112	-0.7867	10	0.72032	D	0.01	-13.9422	14.9457	0.71029	1.0:0.0:0.0:0.0	.	401	O43156	TTI1_HUMAN	P	401	ENSP00000362547:L401P;ENSP00000362546:L401P;ENSP00000407270:L401P	ENSP00000362546:L401P	L	-	2	0	TTI1	36074431	1.000000	0.71417	0.976000	0.42696	0.281000	0.26958	8.761000	0.91691	2.308000	0.77769	0.533000	0.62120	CTT	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.473	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	A	NM_014657	-		36641017	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	missense	SNP	0.997	G	G	36641017	A	G	36641017	3	3	132	1	0	0	0	0	1	0	0	0	8175	72	3	5	2095	5	KIAA0406	20	36641017	Missense_Mutation	SNP	A	TCGA-DX-AB3A-01A-11D-A417-09		36641017	26384503	56	10099											
MEI1	150365	genome.wustl.edu	37	chr22	42166717	42166717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgcaatcagaaaattcCtagaaggcatcccagacctg	8	11	2	3			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr22:42166717C>T	ENST00000401548.3	+	20	2336	c.2296C>T	c.(2296-2298)Cta>Tta	p.L766L	MEI1_ENST00000400107.1_Silent_p.L134L|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Silent_p.L84L	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGAAAATTCCTAGAAGGCAT	0.493																																																	0								ENSG00000167077						70	66	67					22																	42166717		1930	4132	6062	MEI1	SO:0001819	synonymous_variant	0			-	HGNC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2296C>T	22.37:g.42166717C>T		Somatic	0	14	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00		Silent	SNP							superfamily_ARM-type_fold	p.L766	ENST00000401548.3	37	c.2296	CCDS46718.1	22																																																																																			-	superfamily_ARM-type_fold		0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	protein_coding	OTTHUMT00000074937.3	C	NM_152513	-		42166717	1	no_errors	ENST00000401548	ensembl	human	known	74_37	silent	SNP	0.972	T	T	42166717	C	T	42166717	2	4	132	1	0	0	0	0	0	0	0	1	9467	680	24	2		2	MEI1	22	42166717	Silent	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09		42166717	9137849	57	10100											
CYB5R3	1727	genome.wustl.edu	37	chr22	43015932	43015932	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatctcctcattcacgaaGccctggccgtagtcccaggc	8	16	4	0			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chr22:43015932G>T	ENST00000352397.5	-	9	1005	c.753C>A	c.(751-753)ggC>ggA	p.G251G	CYB5R3_ENST00000407332.1_Silent_p.G228G|CYB5R3_ENST00000407623.3_Silent_p.G228G|CYB5R3_ENST00000402438.1_Silent_p.G228G|CYB5R3_ENST00000361740.4_Silent_p.G284G|CYB5R3_ENST00000396303.3_Silent_p.G228G	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	251					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	CATTCACGAAGCCCTGGCCGT	0.627																																																	0								ENSG00000100243						56	49	51					22																	43015932		2203	4300	6503	CYB5R3	SO:0001819	synonymous_variant	0			-	HGNC	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.753C>A	22.37:g.43015932G>T		Somatic	0	66	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Silent	SNP							pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.G284	ENST00000352397.5	37	c.852	CCDS33658.1	22																																																																																			-	pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.627	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R3	protein_coding	OTTHUMT00000320439.1	G		-		43015932	-1	no_errors	ENST00000361740	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43015932	G	T	43015932	2	4	132	1	0	0	0	0	0	0	0	1	4130	958	34	3		3	CYB5R3	22	43015932	Silent	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	849215	43015932	8288634	58	10101											
PHEX	5251	genome.wustl.edu	37	chrX	22263450	22263450	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgcttttctcttctagGtgaggtgcaattcctacaga	11	8	2	2			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chrX:22263450G>T	ENST00000379374.4	+	21	2636	c.2071G>T	c.(2071-2073)Gtg>Ttg	p.V691L	PHEX_ENST00000535894.1_Splice_Site_p.V594L|PHEX_ENST00000418858.3_Splice_Site_p.V394L|PHEX_ENST00000537599.1_Intron	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	691					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTCTTCTAGGTGAGGTGCAA	0.428																																																	0								ENSG00000102174						166	153	157					X																	22263450		2203	4300	6503	PHEX	SO:0001630	splice_region_variant	0			-	HGNC	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.2071-1G>T	X.37:g.22263450G>T		Somatic	0	49	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V691L	ENST00000379374.4	37	c.2071	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904215	0.72754	.	.	ENSG00000102174	ENST00000379374;ENST00000535894;ENST00000418858	D;D;D	0.82711	-1.64;-1.64;-1.64	5.82	5.82	0.92795	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.058639	0.64402	D	0.000002	D	0.82300	0.5007	L	0.39147	1.195	0.58432	D	0.999991	D	0.58970	0.984	P	0.49451	0.611	T	0.81193	-0.1044	9	.	.	.	-12.1985	17.2568	0.87059	0.0:0.0:1.0:0.0	.	691	P78562	PHEX_HUMAN	L	691;594;394	ENSP00000368682:V691L;ENSP00000439418:V594L;ENSP00000443531:V394L	.	V	+	1	0	PHEX	22173371	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.561000	0.67339	2.457000	0.83068	0.544000	0.68410	GTG	-	pfam_Peptidase_M13_C		0.428	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	protein_coding	OTTHUMT00000056035.1	G	NM_000444	-	Missense_Mutation	22263450	1	no_errors	ENST00000379374	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22263450	G	T	22263450	5	4	132	1	0	0	0	0	0	0	1	0	11821	1275	44	3	2153	3	PHEX	23	22263450	Splice_Site	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		22263450	133007110	59	10102											
FAM120C	54954	genome.wustl.edu	37	chrX	54185981	54185981	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggagtcatgggcaagaagGccatggaagccattttccct	12	10	1	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chrX:54185981G>T	ENST00000375180.2	-	2	824	c.768C>A	c.(766-768)ggC>ggA	p.G256G	FAM120C_ENST00000328235.4_Silent_p.G256G	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	256							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGCAAGAAGGCCATGGAAGC	0.483																																																	0								ENSG00000184083						91	73	79					X																	54185981		2203	4300	6503	FAM120C	SO:0001819	synonymous_variant	0			-	HGNC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.768C>A	X.37:g.54185981G>T		Somatic	0	38	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2RMT7	Silent	SNP							NULL	p.G256	ENST00000375180.2	37	c.768	CCDS14356.1	X																																																																																			-	NULL		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	G	NM_017848	-		54185981	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	silent	SNP	0.964	T	T	54185981	G	T	54185981	2	4	132	1	0	0	0	0	0	0	0	1	5420	1190	42	3		3	FAM120C	23	54185981	Silent	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09	31922531	54185981	101084579	60	10103											
ATRX	546	genome.wustl.edu	37	chrX	76937678	76937678	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttaggaaaatgacaaatttCttctcgctcaggtaactttt	6	8	3	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chrX:76937678C>A	ENST00000373344.5	-	9	3284	c.3070G>T	c.(3070-3072)Gaa>Taa	p.E1024*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E986*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1024					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGACAAATTTCTTCTCGCTCA	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						65	68	67					X																	76937678		2195	4286	6481	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3070G>T	X.37:g.76937678C>A	ENSP00000362441:p.Glu1024*	Somatic	0	27	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	0	100.00	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1024*	ENST00000373344.5	37	c.3070	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.546347	0.99201	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.56	4.7	0.59300	.	1.074000	0.07091	N	0.838731	.	.	.	.	.	.	0.29270	N	0.870732	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-1.164	2.4962	0.04622	0.1437:0.5322:0.1549:0.1692	.	.	.	.	X	1024;986;951	.	ENSP00000362441:E1024X	E	-	1	0	ATRX	76824334	0.975000	0.34042	0.147000	0.22382	0.925000	0.55904	1.203000	0.32284	1.104000	0.41587	0.513000	0.50165	GAA	-	NULL		0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76937678	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.416	A	A	76937678	C	A	76937678	4	1	132	1	0	0	0	0	0	1	0	0	1208	922	32	3	4516	3	ATRX	23	76937678	Nonsense_Mutation	SNP	C	TCGA-DX-AB3A-01A-11D-A417-09	22751697	76937678	78332882	61	10104											
TBL1Y	90665	genome.wustl.edu	37	chrY	6948851	6948851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtgtatccatgtgtgcaGgctcggctgtgaccacccag	12	12	0	1			TCGA-DX-AB3A-01A-11D-A417-09	TCGA-DX-AB3A-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9ab794-7d43-4210-8c9b-a4175ccb824e	8152de30-f110-467a-934b-9f92131bee55	g.chrY:6948851G>T	ENST00000383032.1	+	14	1681	c.1034G>T	c.(1033-1035)aGg>aTg	p.R345M	TBL1Y_ENST00000346432.3_Missense_Mutation_p.R345M|TBL1Y_ENST00000355162.2_Missense_Mutation_p.R345M	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CATGTGTGCAGGCTCGGCTGT	0.552																																																	0								ENSG00000092377																																			TBL1Y	SO:0001583	missense	0			-	HGNC	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"WD repeat domain containing"	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.1034G>T	Y.37:g.6948851G>T	ENSP00000372499:p.Arg345Met	Somatic	0	22	0		0.622944657900495				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A1L4B3	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R345M	ENST00000383032.1	37	c.1034	CCDS14779.1	Y																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.552	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1Y	protein_coding	OTTHUMT00000085360.1	G	NM_033284	-		6948851	1	no_errors	ENST00000346432	ensembl	human	known	74_37	missense	SNP	0.987	T	T	6948851	G	T	6948851	3	4	132	1	0	0	0	0	1	0	0	0	15648	1000	35	3	1068	3	TBL1Y	24	6948851	Missense_Mutation	SNP	G	TCGA-DX-AB3A-01A-11D-A417-09		6948851	52424715	62	10105											
TCHH	7062	genome.wustl.edu	37	chr1	152085555	152085555	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcttagggtcatgtggtctCtataaaaatggtgaaaacaa	10	5	3	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr1:152085555C>A	ENST00000368804.1	-	2	138		c.e2-1			NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTGGTCTCTATAAAAATG	0.348																																																	0								ENSG00000159450						31	29	30					1																	152085555		1829	4095	5924	TCHH	SO:0001630	splice_region_variant	0			-	HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.139-1G>T	1.37:g.152085555C>A		Somatic	0	35	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q5VUI3	Splice_Site	SNP							-	e2-1	ENST00000368804.1	37	c.139-1	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210827	0.39102	.	.	ENSG00000159450	ENST00000368804	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6251	0.56626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCHH	150352179	1.000000	0.71417	0.931000	0.37212	0.657000	0.38888	4.248000	0.58760	2.421000	0.82119	0.450000	0.29827	.	-	-		0.348	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	C	NM_007113	-	Intron	152085555	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	splice_site	SNP	0.985	A	A	152085555	C	A	152085555	5	1	133	1	0	0	0	0	0	0	1	0	15707	927	32	3	5697	3	TCHH	1	152085555	Splice_Site	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		152085555	97165066	1	10106											
IPO9	55705	genome.wustl.edu	37	chr1	201844297	201844297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaggaggattactacgagGatgatgaggaagatgaccct	14	6	0	5			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr1:201844297G>T	ENST00000361565.4	+	23	3025	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	986					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TTACTACGAGGATGATGAGGA	0.498																																																	0								ENSG00000198700						169	149	156					1																	201844297		2203	4300	6503	IPO9	SO:0001583	missense	0			-	HGNC	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2956G>T	1.37:g.201844297G>T	ENSP00000354742:p.Asp986Tyr	Somatic	0	63	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP							pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D986Y	ENST00000361565.4	37	c.2956	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563458	0.65651	.	.	ENSG00000198700	ENST00000361565;ENST00000456707	T	0.71817	-0.6	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.42245	1.32	0.80722	D	1	B	0.31503	0.326	B	0.26202	0.067	T	0.66756	-0.5843	10	0.72032	D	0.01	.	16.9969	0.86370	0.0:0.0:1.0:0.0	.	986	Q96P70	IPO9_HUMAN	Y	986;61	ENSP00000354742:D986Y	ENSP00000354742:D986Y	D	+	1	0	IPO9	200110920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.308000	0.96247	2.676000	0.91093	0.655000	0.94253	GAT	-	superfamily_ARM-type_fold		0.498	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	protein_coding	OTTHUMT00000087088.1	G	NM_018085	-		201844297	1	no_errors	ENST00000361565	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201844297	G	T	201844297	3	4	133	1	0	0	0	0	1	0	0	0	7801	1174	41	3	3046	3	IPO9	1	201844297	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	49758742	201844297	47406324	2	10107											
TSPYL6	388951	genome.wustl.edu	37	chr2	54482087	54482087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccaaagggcctggggAtctccactggctcccttacc	11	15	1	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr2:54482087A>G	ENST00000317802.7	-	1	1322	c.1202T>C	c.(1201-1203)aTc>aCc	p.I401T	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	401					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGGCCTGGGGATCTCCACTGG	0.537																																																	0								ENSG00000178021						68	74	72					2																	54482087		2153	4286	6439	TSPYL6	SO:0001583	missense	0			-	HGNC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.1202T>C	2.37:g.54482087A>G	ENSP00000417919:p.Ile401Thr	Somatic	0	90	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	Q6NUJ3	Missense_Mutation	SNP							pfam_NAP_family	p.I401T	ENST00000317802.7	37	c.1202	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	A	3.389	-0.124656	0.06795	.	.	ENSG00000178021	ENST00000317802	T	0.17854	2.25	1.83	0.638	0.17742	.	.	.	.	.	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	0.99999	P	0.37330	0.59	B	0.30251	0.113	T	0.22556	-1.0213	9	0.02654	T	1	.	3.6474	0.08189	0.7923:0.0:0.2077:0.0	.	401	Q8N831	TSYL6_HUMAN	T	401	ENSP00000417919:I401T	ENSP00000417919:I401T	I	-	2	0	TSPYL6	54335591	0.034000	0.19679	0.498000	0.27564	0.936000	0.57629	0.004000	0.13106	0.171000	0.19730	0.482000	0.46254	ATC	-	NULL		0.537	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	protein_coding	OTTHUMT00000324069.3	A	XM_371494	-		54482087	-1	no_errors	ENST00000317802	ensembl	human	known	74_37	missense	SNP	0.613	G	G	54482087	A	G	54482087	3	3	133	1	0	0	0	0	1	0	0	0	16670	333	12	5	34	5	TSPYL6	2	54482087	Missense_Mutation	SNP	A	TCGA-DX-AB3B-01A-11D-A417-09		54482087	188717286	3	10108											
CCDC88A	55704	genome.wustl.edu	37	chr2	55561568	55561570	+	In_Frame_Del	DEL	GCA	GCA	-													tagttcttctaggtttttctGcaatgtttgattttccatct							TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr2:55561568_55561570delGCA	ENST00000436346.1	-	15	3228_3230	c.2387_2389delTGC	c.(2386-2391)ttgcag>tag	p.796_797LQ>*	AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_In_Frame_Del_p.796_797LQ>*|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_In_Frame_Del_p.796_797LQ>*|CCDC88A_ENST00000336838.6_In_Frame_Del_p.796_797LQ>*|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	796					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGGTTTTTCTGCAATGTTTGATT	0.315																																																	0								ENSG00000115355																																			CCDC88A	SO:0001651	inframe_deletion	0				HGNC	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2387_2389delTGC	2.37:g.55561568_55561570delGCA	ENSP00000410608:p.Leu796_Gln797delins*	Somatic	0	64	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	In_Frame_Del	DEL							pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.LQKNL796in_frame_del*	ENST00000436346.1	37	c.2389_2387		2																																																																																			-	superfamily_Prefoldin		0.315	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	protein_coding		GCA	NM_017571			55561570	-1	no_errors	ENST00000436346	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	55561570	GCA	-	55561568	7	5	133	1	0	1	0	1	0	0	0	0	2865	1328	46	0	3298	0	CCDC88A	2	55561568	In_Frame_Del	DEL	GCA	TCGA-DX-AB3B-01A-11D-A417-09	1079481	55561568	187637805	4	10109											
RTKN	84058	genome.wustl.edu	37	chr2	74654698	74654698	+	IGR	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcctagagcctggtccagctCccctgcccggactcgagtct	10	17	1	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr2:74654698C>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Nonsense_Mutation_p.E370*|RTKN_ENST00000305557.5_Nonsense_Mutation_p.E357*|RTKN_ENST00000233330.6_Nonsense_Mutation_p.E320*	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGGTCCAGCTCCCCTGCCCGG	0.557																																																	0								ENSG00000114993						139	150	146					2																	74654698		2203	4300	6503	RTKN	SO:0001628	intergenic_variant	0			-	HGNC	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654698C>A		Somatic	0	56	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E370*	ENST00000348227.4	37	c.1108	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.611410	0.98390	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	.	.	.	4.6	3.71	0.42584	.	0.224032	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	10.2116	0.43145	0.1981:0.8019:0.0:0.0	.	.	.	.	X	357;370;320	.	ENSP00000233330:E320X	E	-	1	0	RTKN	74508206	1.000000	0.71417	0.980000	0.43619	0.292000	0.27327	5.065000	0.64344	1.267000	0.44247	0.561000	0.74099	GAG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.557	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTKN	protein_coding	OTTHUMT00000252213.1	C	NM_032118	-		74654698	-1	no_errors	ENST00000272430	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	74654698	C	A	74654698	1	1	133	0	1	0	0	0	0	0	0	0	13730	864	30	3		3	RTKN	2	74654698	IGR	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	19093130	74654698	168544675	5	10110											
SCN2A	6326	genome.wustl.edu	37	chr2	166245201	166245201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccctgttccgagtgatcCgtcttgccaggattggccga	11	13	1	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr2:166245201C>T	ENST00000375437.2	+	27	5175	c.4885C>T	c.(4885-4887)Cgt>Tgt	p.R1629C	SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1629			R -> L (in EIEE11). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGAGTGATCCGTCTTGCCAG	0.433																																																	0								ENSG00000136531						110	111	111					2																	166245201		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4885C>T	2.37:g.166245201C>T	ENSP00000364586:p.Arg1629Cys	Somatic	0	220	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	132	14.84	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R1629C	ENST00000375437.2	37	c.4885	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319556	0.60524	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99691	0.9883	H	0.99946	5.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.96880	0.9645	10	0.87932	D	0	.	19.8035	0.96518	0.0:1.0:0.0:0.0	.	1629;1629	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1629	ENSP00000364586:R1629C;ENSP00000349973:R1629C;ENSP00000283256:R1629C;ENSP00000364576:R1629C	ENSP00000283256:R1629C	R	+	1	0	SCN2A	165953447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.813000	0.55636	2.751000	0.94390	0.552000	0.68991	CGT	-	pfam_Ion_trans_dom		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166245201	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166245201	C	T	166245201	3	4	133	1	0	0	0	0	1	0	0	0	13924	652	23	1	5083	1	SCN2A	2	166245201	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	91590503	166245201	76954172	6	10111											
PMS1	5378	genome.wustl.edu	37	chr2	190660493	190660495	+	Splice_Site	DEL	AGG	AGG	-													agtgttttttgacattttatAggagaactatggatttgata							TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr2:190660493_190660495delAGG	ENST00000441310.2	+	3	365_366	c.132_133delAGG	c.(130-135)ctagga>ctga	p.G45del	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409823.3_Splice_Site_p.G45del|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409985.1_Splice_Site_p.G45del|PMS1_ENST00000447232.2_Splice_Site_p.G45del|PMS1_ENST00000374826.4_Splice_Site_p.G45del	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	45					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GACATTTTATAGGAGAACTATGG	0.31			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0								ENSG00000064933																																			PMS1	SO:0001630	splice_region_variant	0				HGNC		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.133-1AGG>-	2.37:g.190660493_190660495delAGG		Somatic	0	189	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	105	11.76	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Splice_Site	DEL							-	e2-1	ENST00000441310.2	37	c.133-2_133-1	CCDS2302.1	2																																																																																			-	-		0.31	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	protein_coding	OTTHUMT00000255918.2	AGG			In_Frame_Del	190660495	1	no_errors	ENST00000441310	ensembl	human	known	74_37	splice_site_del	DEL	0.998:1.000:1.000	-	-	190660495	AGG	-	190660493	8	5	133	1	0	1	0	1	0	0	1	0	12144	434	15	0	137	0	PMS1	2	190660493	Splice_Site	DEL	AGG	TCGA-DX-AB3B-01A-11D-A417-09	24415292	190660493	52538880	7	10112											
SP140	11262	genome.wustl.edu	37	chr2	231109717	231109717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtttctcttcagagTcttgtgagcagttagctctc	9	10	4	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr2:231109717T>C	ENST00000392045.3	+	6	700	c.586T>C	c.(586-588)Tct>Cct	p.S196P	SP140_ENST00000343805.6_Missense_Mutation_p.S196P|SP140_ENST00000417495.3_Missense_Mutation_p.S196P|SP140_ENST00000350136.5_Missense_Mutation_p.S176P|SP140_ENST00000486687.2_Missense_Mutation_p.S196P|SP140_ENST00000420434.3_Missense_Mutation_p.S196P	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	196					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTCTTCAGAGTCTTGTGAGCA	0.493																																																	0								ENSG00000079263						136	127	130					2																	231109717		1949	4171	6120	SP140	SO:0001583	missense	0			-	HGNC	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.586T>C	2.37:g.231109717T>C	ENSP00000375899:p.Ser196Pro	Somatic	0	58	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP							pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.S196P	ENST00000392045.3	37	c.586	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	T	9.250	1.040450	0.19669	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.58940	0.67;0.73;0.59;0.3;0.54	2.48	1.25	0.21368	.	.	.	.	.	T	0.51363	0.1670	N	0.24115	0.695	0.09310	N	1	D;D;D;D;P	0.61080	0.963;0.978;0.987;0.989;0.808	B;B;P;P;B	0.56278	0.425;0.278;0.696;0.795;0.362	T	0.37337	-0.9710	9	0.62326	D	0.03	1.5666	4.6696	0.12682	0.2822:0.0:0.0:0.7178	.	196;196;196;196;196	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75	.;.;.;LY10_HUMAN;.	P	196;196;176;196;196;196;196	ENSP00000440107:S196P;ENSP00000345846:S176P;ENSP00000375899:S196P;ENSP00000342096:S196P;ENSP00000398210:S196P	ENSP00000342096:S196P	S	+	1	0	SP140	230817961	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.161000	0.16481	0.347000	0.23924	0.523000	0.50628	TCT	-	NULL		0.493	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	protein_coding	OTTHUMT00000332015.1	T	NM_007237	-		231109717	1	no_errors	ENST00000392045	ensembl	human	known	74_37	missense	SNP	0.001	C	C	231109717	T	C	231109717	3	2	133	1	0	0	0	0	1	0	0	0	14970	1667	58	5	725	5	SP140	2	231109717	Missense_Mutation	SNP	T	TCGA-DX-AB3B-01A-11D-A417-09	40449224	231109717	12089656	8	10113											
CSRNP1	64651	genome.wustl.edu	37	chr3	39185356	39185356	+	Frame_Shift_Del	DEL	T	T	-													gcctcctcaccagggctgggTgggctgccctgggcaggggc							TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr3:39185356delT	ENST00000273153.5	-	5	1137	c.960delA	c.(958-960)ccafs	p.P321fs	CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.P321fs	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	321					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						CAGGGCTGGGTGGGCTGCCCT	0.612																																																	0								ENSG00000144655						36	36	36					3																	39185356		2203	4300	6503	CSRNP1	SO:0001589	frameshift_variant	0				HGNC	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.960delA	3.37:g.39185356delT	ENSP00000273153:p.Pro321fs	Somatic	0	52	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q69YY5	Frame_Shift_Del	DEL							prints_Cys/Ser-rich_nuc_prot	p.S322fs	ENST00000273153.5	37	c.960	CCDS2682.1	3																																																																																			-	NULL		0.612	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	protein_coding	OTTHUMT00000254061.1	T	NM_033027			39185356	-1	no_errors	ENST00000273153	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	39185356	T	-	39185356	7	5	133	1	0	1	0	1	0	0	0	0	3965	1683	59	0	813	0	CSRNP1	3	39185356	Frame_Shift_Del	DEL	T	TCGA-DX-AB3B-01A-11D-A417-09		39185356	158837074	9	10114											
NKTR	4820	genome.wustl.edu	37	chr3	42684025	42684025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctctagaagtcggagcagagGatggtacagcagaggccgaa	15	8	1	3			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr3:42684025G>T	ENST00000232978.8	+	14	4267	c.4079G>T	c.(4078-4080)gGa>gTa	p.G1360V	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1360					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CGGAGCAGAGGATGGTACAGC	0.408																																																	0								ENSG00000114857						107	106	106					3																	42684025		2203	4300	6503	NKTR	SO:0001583	missense	0			-	HGNC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4079G>T	3.37:g.42684025G>T	ENSP00000232978:p.Gly1360Val	Somatic	0	79	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G1360V	ENST00000232978.8	37	c.4079	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203321	0.58234	.	.	ENSG00000114857	ENST00000232978	T	0.13538	2.58	5.33	4.46	0.54185	.	0.149463	0.45361	D	0.000361	T	0.31979	0.0814	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.69479	0.964;0.887	T	0.04090	-1.0978	10	0.87932	D	0	-10.4772	13.5828	0.61913	0.0749:0.0:0.9251:0.0	.	1060;1360	Q6M1B8;P30414	.;NKTR_HUMAN	V	1360	ENSP00000232978:G1360V	ENSP00000232978:G1360V	G	+	2	0	NKTR	42659029	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.192000	0.77771	1.246000	0.43901	0.655000	0.94253	GGA	-	NULL		0.408	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	protein_coding	OTTHUMT00000256642.2	G	NM_005385	-		42684025	1	no_errors	ENST00000232978	ensembl	human	known	74_37	missense	SNP	0.996	T	T	42684025	G	T	42684025	3	4	133	1	0	0	0	0	1	0	0	0	10450	1174	41	3	4129	3	NKTR	3	42684025	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	3498669	42684025	155338405	10	10115											
PLXND1	23129	genome.wustl.edu	37	chr3	129290655	129290655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccggcagggccccctcaGgcatggtgcaggcgatgctg	17	13	1	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr3:129290655G>A	ENST00000324093.4	-	16	3288	c.3110C>T	c.(3109-3111)cCt>cTt	p.P1037L	PLXND1_ENST00000393239.1_Missense_Mutation_p.P1037L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1037	IPT/TIG 2.				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						GGCCCCCTCAGGCATGGTGCA	0.667																																					Ovarian(97;366 1484 3738 22084 39045)												0								ENSG00000004399						27	27	27					3																	129290655		2200	4297	6497	PLXND1	SO:0001583	missense	0			-	HGNC	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.3110C>T	3.37:g.129290655G>A	ENSP00000317128:p.Pro1037Leu	Somatic	0	58	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P1037L	ENST00000324093.4	37	c.3110	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828284	0.50845	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	D;D	0.86230	-2.09;-2.09	4.48	4.48	0.54585	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.068841	0.64402	D	0.000016	D	0.93779	0.8011	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94942	0.8092	10	0.87932	D	0	.	17.1864	0.86868	0.0:0.0:1.0:0.0	.	1037	Q9Y4D7	PLXD1_HUMAN	L	1037	ENSP00000317128:P1037L;ENSP00000376931:P1037L	ENSP00000317128:P1037L	P	-	2	0	PLXND1	130773345	1.000000	0.71417	0.653000	0.29593	0.043000	0.13939	5.275000	0.65575	2.057000	0.61298	0.555000	0.69702	CCT	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.667	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	protein_coding	OTTHUMT00000356132.4	G	NM_015103	-		129290655	-1	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	SNP	0.991	A	A	129290655	G	A	129290655	3	1	133	1	0	0	0	0	1	0	0	0	12129	1000	35	2	2751	2	PLXND1	3	129290655	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	86606630	129290655	68731775	11	10116											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160264507	160264507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaagaaattcgtcacgttGgccgaatggcttcagtgaac	10	9	2	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr4:160264507G>T	ENST00000264431.4	+	16	3141	c.2722G>T	c.(2722-2724)Ggc>Tgc	p.G908C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	908	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		TCGTCACGTTGGCCGAATGGC	0.448																																																	0								ENSG00000109756						116	113	114					4																	160264507		1939	4141	6080	RAPGEF2	SO:0001583	missense	0			-	HGNC	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.2722G>T	4.37:g.160264507G>T	ENSP00000264431:p.Gly908Cys	Somatic	0	40	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DP27	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G908C	ENST00000264431.4	37	c.2722	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.52|16.52	3.146055|3.146055	0.57044|0.57044	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.29397|.	1.57|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.26268|0.26268	0.0641|0.0641	N|N	0.00583|0.00583	-1.355|-1.355	0.80722|0.80722	D|D	1|1	B|.	0.18968|.	0.032|.	B|.	0.17098|.	0.017|.	T|T	0.40251|0.40251	-0.9573|-0.9573	10|5	0.41790|.	T|.	0.15|.	.|.	19.8852|19.8852	0.96909|0.96909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	908|.	Q9Y4G8|.	RPGF2_HUMAN|.	C|L	908|21	ENSP00000264431:G908C|.	ENSP00000264431:G908C|.	G|W	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160483957|160483957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.864000|9.864000	0.99589|0.99589	2.697000|2.697000	0.92050|0.92050	0.491000|0.491000	0.48974|0.48974	GGC|TGG	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	protein_coding	OTTHUMT00000364980.2	G	NM_014247	-		160264507	1	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160264507	G	T	160264507	3	4	133	1	0	0	0	0	1	0	0	0	13052	1348	47	3	2784	3	RAPGEF2	4	160264507	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		160264507	30889769	12	10117											
SLC17A4	10050	genome.wustl.edu	37	chr6	25777120	25777120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatgaccttcttggtgCtgtcttctgccatcagcagc	9	13	4	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr6:25777120C>T	ENST00000377905.4	+	10	1320	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	SLC17A4_ENST00000439485.2_Silent_p.L171L|SLC17A4_ENST00000397076.2_Silent_p.L199L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	401					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTCTTGGTGCTGTCTTCTGC	0.532																																																	0								ENSG00000146039						151	130	137					6																	25777120		2203	4300	6503	SLC17A4	SO:0001819	synonymous_variant	0			-	HGNC	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1201C>T	6.37:g.25777120C>T		Somatic	0	38	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L401	ENST00000377905.4	37	c.1201	CCDS4564.1	6																																																																																			-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.532	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	protein_coding	OTTHUMT00000040068.1	C		-		25777120	1	no_errors	ENST00000377905	ensembl	human	known	74_37	silent	SNP	0.000	T	T	25777120	C	T	25777120	2	4	133	1	0	0	0	0	0	0	0	1	14427	796	28	2		2	SLC17A4	6	25777120	Silent	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		25777120	145337947	13	10118											
HIST1H3C	8352	genome.wustl.edu	37	chr6	26045798	26045798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggccttgcgcgaaatccgtCgctaccagaagtccaccgag	11	14	0	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr6:26045798C>T	ENST00000540144.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	54					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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CGAAATCCGTCGCTACCAGAA	0.622																																																	0								ENSG00000196532						48	51	50					6																	26045798		2203	4300	6503	HIST1H3C	SO:0001583	missense	0			-	HGNC	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.160C>T	6.37:g.26045798C>T	ENSP00000439493:p.Arg54Cys	Somatic	0	91	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R54C	ENST00000540144.1	37	c.160	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452628	0.43531	.	.	ENSG00000196532	ENST00000540144	T	0.48201	0.82	4.53	4.53	0.55603	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.56426	-0.7981	6	0.49607	T	0.09	.	17.1289	0.86722	0.0:1.0:0.0:0.0	.	.	.	.	C	54	ENSP00000439493:R54C	ENSP00000439493:R54C	R	+	1	0	HIST1H3C	26153777	1.000000	0.71417	0.987000	0.45799	0.014000	0.08584	5.954000	0.70298	2.460000	0.83146	0.491000	0.48974	CGC	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.622	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	protein_coding	OTTHUMT00000040078.1	C	NM_003531	-		26045798	1	no_errors	ENST00000540144	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26045798	C	T	26045798	3	4	133	1	0	0	0	0	1	0	0	0	7159	884	31	1	162	1	HIST1H3C	6	26045798	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	268678	26045798	145069269	14	10119											
ZSCAN12	9753	genome.wustl.edu	37	chr6	28358731	28358731	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actgaaggatttcccacattCcttacactgatagcattttt	5	10	0	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr6:28358731C>G	ENST00000361028.1	-	4	1481	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E446Q			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	446					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(2)|endometrium(3)|urinary_tract(1)	6						TTCCCACATTCCTTACACTGA	0.418																																																	0								ENSG00000158691						109	94	99					6																	28358731		692	1591	2283	ZSCAN12	SO:0001583	missense	0			-	HGNC	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"-", "Zinc fingers, C2H2-type"	13172	protein-coding gene	gene with protein product		603978	"zinc finger protein 305", "zinc finger protein 96"	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1336G>C	6.37:g.28358731C>G	ENSP00000354305:p.Glu446Gln	Somatic	0	34	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	O43724	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E446Q	ENST00000361028.1	37	c.1336		6	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613148	0.46631	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07444	3.19;3.19	3.45	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.16130	0.375	0.22330	N	0.999199	D;B	0.61697	0.99;0.002	P;B	0.55824	0.785;0.003	T	0.39440	-0.9614	9	0.49607	T	0.09	.	13.8207	0.63318	0.0:1.0:0.0:0.0	.	446;446	A8K187;O43309	.;ZSC12_HUMAN	Q	446	ENSP00000354305:E446Q;ENSP00000380039:E446Q	ENSP00000354305:E446Q	E	-	1	0	ZSCAN12	28466710	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.025000	0.12413	1.755000	0.51935	0.650000	0.86243	GAA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	protein_coding	OTTHUMT00000040190.1	C	NM_014724	-		28358731	-1	no_errors	ENST00000361028	ensembl	human	known	74_37	missense	SNP	0.900	G	G	28358731	C	G	28358731	3	3	133	1	0	0	0	0	1	0	0	0	18235	864	30	4	503	4	ZSCAN12	6	28358731	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	2312933	28358731	142756336	15	10120											
WNT2	7472	genome.wustl.edu	37	chr7	116960808	116960808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggcctggcacattatcGcacatcaccctggaggagcc	10	15	1	0	rs140391205		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr7:116960808G>A	ENST00000265441.3	-	2	422	c.123C>T	c.(121-123)tgC>tgT	p.C41C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	41					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCACATTATCGCACATCACCC	0.597																																																	0								ENSG00000105989	G		1,4405	2.1+/-5.4	0,1,2202	53	45	48		123	2.9	1	7	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	WNT2	NM_003391.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		41/361	116960808	1,13005	2203	4300	6503	WNT2	SO:0001819	synonymous_variant	0			-	HGNC	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.123C>T	7.37:g.116960808G>A		Somatic	0	22	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	A4D0V1|Q75N05|Q9UDP9	Silent	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.C41	ENST00000265441.3	37	c.123	CCDS5771.1	7																																																																																			-	pfam_Wnt,prints_Wnt2		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	protein_coding	OTTHUMT00000059749.3	G	NM_003391	rs140391205		116960808	-1	no_errors	ENST00000265441	ensembl	human	known	74_37	silent	SNP	1.000	A	A	116960808	G	A	116960808	2	1	133	1	0	0	0	0	0	0	0	1	17393	1079	38	1		1	WNT2	7	116960808	Silent	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		116960808	42177855	16	10121											
MLL3	58508	genome.wustl.edu	37	chr7	151833996	151833996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttcaaagtcaaacttaTagtcatagcagagctgccca	6	11	4	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr7:151833996T>G	ENST00000262189.6	-	59	14875	c.14657A>C	c.(14656-14658)tAt>tCt	p.Y4886S	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y4943S|KMT2C_ENST00000485655.2_Missense_Mutation_p.Y91S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4886	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										GTCAAACTTATAGTCATAGCA	0.473																																																	0								ENSG00000055609						94	80	85					7																	151833996		2203	4300	6503	KMT2C	SO:0001583	missense	0			-	HGNC	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.14657A>C	7.37:g.151833996T>G	ENSP00000262189:p.Tyr4886Ser	Somatic	0	44	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Y4943S	ENST00000262189.6	37	c.14828	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307398	0.40795	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000485655;ENST00000424877	D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28	5.19	5.19	0.71726	SET domain (3);	0.000000	0.39083	U	0.001480	D	0.99573	0.9846	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97507	1.0064	10	0.87932	D	0	.	15.3533	0.74405	0.0:0.0:0.0:1.0	.	4886;4000	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	4886;4943;91;1499	ENSP00000262189:Y4886S;ENSP00000347325:Y4943S;ENSP00000439909:Y91S;ENSP00000410411:Y1499S	ENSP00000262189:Y4886S	Y	-	2	0	MLL3	151464929	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.870000	0.87175	2.072000	0.62099	0.533000	0.62120	TAT	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	T		-		151833996	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	SNP	1.000	G	G	151833996	T	G	151833996	3	3	133	1	0	0	0	0	1	0	0	0	9624	1406	49	5	82	5	MLL3	7	151833996	Missense_Mutation	SNP	T	TCGA-DX-AB3B-01A-11D-A417-09	34873188	151833996	7304667	17	10122											
GPR124	25960	genome.wustl.edu	37	chr8	37696483	37696483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcccaggagctgagcGcctttcccagggaggtgggg	15	13	0	1	rs143113584		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr8:37696483G>A	ENST00000412232.2	+	15	2282	c.2269G>A	c.(2269-2271)Gcc>Acc	p.A757T	GPR124_ENST00000315215.7_Missense_Mutation_p.A540T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	757	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)			GGAGCTGAGCGCCTTTCCCAG	0.672																																																	0								ENSG00000020181	G	THR/ALA	0,4406		0,0,2203	33	36	35		2269	2.2	0.2	8	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GPR124	NM_032777.9	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	757/1339	37696483	1,13005	2203	4300	6503	GPR124	SO:0001583	missense	0			-	HGNC	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.2269G>A	8.37:g.37696483G>A	ENSP00000406367:p.Ala757Thr	Somatic	0	70	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	50	18.03	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.A757T	ENST00000412232.2	37	c.2269	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	6.071	0.381330	0.11466	0.0	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.58210	0.35;0.45	5.37	2.16	0.27623	GPS domain (2);	0.528406	0.20165	N	0.097878	T	0.22781	0.0550	N	0.02539	-0.55	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.09377	0.004;0.0	T	0.19353	-1.0308	10	0.14656	T	0.56	-13.0176	9.8117	0.40826	0.364:0.0:0.6359:0.0	.	540;757	Q96PE1-2;Q96PE1	.;GP124_HUMAN	T	750;540;757	ENSP00000323508:A540T;ENSP00000406367:A757T	ENSP00000323508:A540T	A	+	1	0	GPR124	37815641	0.078000	0.21339	0.241000	0.24154	0.108000	0.19459	0.717000	0.25851	0.670000	0.31165	-1.049000	0.02347	GCC	-	pfscan_GPS_dom		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	protein_coding	OTTHUMT00000343331.2	G		rs143113584		37696483	1	no_errors	ENST00000412232	ensembl	human	known	74_37	missense	SNP	0.016	A	A	37696483	G	A	37696483	3	1	133	1	0	0	0	0	1	0	0	0	6640	1087	38	1	2306	1	GPR124	8	37696483	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		37696483	108667539	18	10123											
TRAPPC9	83696	genome.wustl.edu	37	chr8	141461086	141461086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagaaagccacgtcggtGcgcggctgctccacgatctc	14	13	1	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr8:141461086G>A	ENST00000438773.2	-	2	520	c.387C>T	c.(385-387)cgC>cgT	p.R129R	TRAPPC9_ENST00000389328.4_Silent_p.R227R|TRAPPC9_ENST00000389327.3_Silent_p.R129R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	129					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCACGTCGGTGCGCGGCTGCT	0.572																																																	0								ENSG00000167632						69	59	63					8																	141461086		2203	4300	6503	TRAPPC9	SO:0001819	synonymous_variant	0			-	HGNC	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.387C>T	8.37:g.141461086G>A		Somatic	0	54	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP							pfam_TRAPP_II_complex_Trs120	p.R227	ENST00000438773.2	37	c.681	CCDS55278.1	8																																																																																			-	NULL		0.572	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	protein_coding	OTTHUMT00000377749.1	G	NM_031466	-		141461086	-1	no_errors	ENST00000389328	ensembl	human	known	74_37	silent	SNP	0.837	A	A	141461086	G	A	141461086	2	1	133	1	0	0	0	0	0	0	0	1	16472	1306	46	2		2	TRAPPC9	8	141461086	Silent	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	103764603	141461086	4902936	19	10124											
ZNF707	286075	genome.wustl.edu	37	chr8	144776688	144776688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagaggactcacaggcaCggggaggtgtaggggcgccc	17	11	2	1	rs371296133	byFrequency	TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr8:144776688C>T	ENST00000532205.1	+	8	2003	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.H368H|ZNF707_ENST00000454097.1_Silent_p.H368H|ZNF707_ENST00000418203.2_Silent_p.H368H|ZNF707_ENST00000532158.1_Silent_p.H368H			Q96C28	ZN707_HUMAN	zinc finger protein 707	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)	p.H368H(1)		breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCACAGGCACGGGGAGGTGT	0.632													C|||	3	0.000599042	0.0023	0	5008	,	,		16201	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	endometrium(1)						ENSG00000181135	C	,,	3,4165		0,3,2081	19	22	21		1104,1104,1104	-5.4	0	8		21	6,8420		0,6,4207	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF707	NM_001100598.1,NM_001100599.1,NM_173831.3	,,	0,9,6288	TT,TC,CC		0.0712,0.072,0.0715	,,	368/372,368/372,368/372	144776688	9,12585	2084	4213	6297	ZNF707	SO:0001819	synonymous_variant	0			-	HGNC	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.1104C>T	8.37:g.144776688C>T		Somatic	0	99	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	41	46.75	A8K317|B3KNY1|D3DWK7	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H368	ENST00000532205.1	37	c.1104	CCDS47932.1	8																																																																																			-	NULL		0.632	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	protein_coding	OTTHUMT00000382197.1	C	NM_173831	-		144776688	1	no_errors	ENST00000358656	ensembl	human	known	74_37	silent	SNP	0.000	T	T	144776688	C	T	144776688	2	4	133	1	0	0	0	0	0	0	0	1	18118	535	19	1		1	ZNF707	8	144776688	Silent	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	3315602	144776688	1587334	20	10125											
APBA1	320	genome.wustl.edu	37	chr9	72131055	72131055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtcctggttttcacctcctCgatggcctccttgatgtcct	9	14	1	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr9:72131055C>G	ENST00000265381.4	-	2	1294	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	358					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTCACCTCCTCGATGGCCTCC	0.662																																																	0								ENSG00000107282						128	97	108					9																	72131055		2203	4300	6503	APBA1	SO:0001583	missense	0			-	HGNC	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1072G>C	9.37:g.72131055C>G	ENSP00000265381:p.Glu358Gln	Somatic	0	68	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	27	41.30	O14914|O60570|Q5VYR8	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.E358Q	ENST00000265381.4	37	c.1072	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532240	0.85812	.	.	ENSG00000107282	ENST00000265381	T	0.05786	3.39	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.10208	0.0250	L	0.34521	1.04	0.80722	D	1	P	0.52577	0.954	P	0.48304	0.573	T	0.29088	-1.0023	10	0.22109	T	0.4	-19.4294	20.1772	0.98182	0.0:1.0:0.0:0.0	.	358	Q02410	APBA1_HUMAN	Q	358	ENSP00000265381:E358Q	ENSP00000265381:E358Q	E	-	1	0	APBA1	71320875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	GAG	-	NULL		0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	protein_coding	OTTHUMT00000052589.2	C	NM_001163	-		72131055	-1	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72131055	C	G	72131055	3	3	133	1	0	0	0	0	1	0	0	0	756	893	31	4	1489	4	APBA1	9	72131055	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		72131055	69082376	21	10126											
NCOA4	8031	genome.wustl.edu	37	chr10	51585393	51585393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccccttgtcggagtggCttatcaggcccccatacaaa	9	14	1	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr10:51585393C>T	ENST00000443446.1	+	8	1721	c.1492C>T	c.(1492-1494)Ctt>Ttt	p.L498F	NCOA4_ENST00000344348.6_Missense_Mutation_p.L498F|NCOA4_ENST00000414907.2_Missense_Mutation_p.L332F|NCOA4_ENST00000452682.1_Missense_Mutation_p.L514F|NCOA4_ENST00000438493.1_Missense_Mutation_p.L514F|NCOA4_ENST00000374087.4_Missense_Mutation_p.L498F|NCOA4_ENST00000430396.2_Missense_Mutation_p.L398F|NCOA4_ENST00000374082.1_Missense_Mutation_p.L498F	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	498					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTCGGAGTGGCTTATCAGGCC	0.443			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0								ENSG00000138293						86	95	92					10																	51585393		2203	4300	6503	NCOA4	SO:0001583	missense	0			-	HGNC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1492C>T	10.37:g.51585393C>T	ENSP00000390713:p.Leu498Phe	Somatic	0	121	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	45	50.55	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP							pfam_ARA70	p.L514F	ENST00000443446.1	37	c.1540	CCDS7237.1	10	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512582	0.64522	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	6.16	6.16	0.99307	.	0.210828	0.41938	D	0.000799	T	0.54029	0.1833	M	0.68952	2.095	0.47659	D	0.999482	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68765	0.96;0.96;0.96;0.96	T	0.52756	-0.8533	9	.	.	.	-21.1684	9.8046	0.40786	0.1404:0.7906:0.0:0.069	.	398;514;514;498	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	F	514;514;398;498;332;498;498;498	ENSP00000405146:L514F;ENSP00000395465:L514F;ENSP00000393053:L398F;ENSP00000363200:L498F;ENSP00000411018:L332F;ENSP00000344552:L498F;ENSP00000363195:L498F;ENSP00000390713:L498F	.	L	+	1	0	NCOA4	51255399	1.000000	0.71417	0.990000	0.47175	0.549000	0.35272	2.148000	0.42235	2.937000	0.99478	0.650000	0.86243	CTT	-	NULL		0.443	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	protein_coding	OTTHUMT00000048052.1	C	NM_005437	-		51585393	1	no_errors	ENST00000452682	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51585393	C	T	51585393	3	4	133	1	0	0	0	0	1	0	0	0	10233	797	28	2	1570	2	NCOA4	10	51585393	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		51585393	83949354	22	10127											
SYNPO2L	79933	genome.wustl.edu	37	chr10	75407274	75407274	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagtcatagggggcggggtCttgggagccattggaggggg	23	5	2	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr10:75407274C>A	ENST00000394810.2	-	4	2285	c.2136G>T	c.(2134-2136)aaG>aaT	p.K712N	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.K488N	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	712	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGGCGGGGTCTTGGGAGCCA	0.622																																																	0								ENSG00000166317						50	62	58					10																	75407274		2203	4300	6503	SYNPO2L	SO:0001583	missense	0			-	HGNC	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2136G>T	10.37:g.75407274C>A	ENSP00000378289:p.Lys712Asn	Somatic	0	15	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	A5PKV9|Q68A20	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K712N	ENST00000394810.2	37	c.2136	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977169	0.34848	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.23552	1.9;2.24	5.16	4.25	0.50352	.	0.121946	0.37053	N	0.002279	T	0.29389	0.0732	L	0.44542	1.39	0.33783	D	0.624547	P;P	0.50617	0.671;0.937	B;P	0.50754	0.203;0.649	T	0.34527	-0.9825	10	0.19147	T	0.46	-9.4066	12.921	0.58232	0.0:0.9208:0.0:0.0792	.	712;488	Q9H987;Q9H987-2	SYP2L_HUMAN;.	N	488;712	ENSP00000361964:K488N;ENSP00000378289:K712N	ENSP00000361964:K488N	K	-	3	2	SYNPO2L	75077280	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	0.540000	0.23191	1.373000	0.46208	0.561000	0.74099	AAG	-	NULL		0.622	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	protein_coding	OTTHUMT00000316562.2	C	NM_024875	-		75407274	-1	no_errors	ENST00000394810	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75407274	C	A	75407274	3	1	133	1	0	0	0	0	1	0	0	0	15465	912	32	3	801	3	SYNPO2L	10	75407274	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	23821881	75407274	60127473	23	10128											
ABTB2	25841	genome.wustl.edu	37	chr11	34194817	34194817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtaggtgatggccacgcGcatccactccatgaggggcg	15	12	0	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr11:34194817G>A	ENST00000435224.2	-	4	1706	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ABTB2_ENST00000298992.2_Missense_Mutation_p.R242C|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	428					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATGGCCACGCGCATCCACTCC	0.692																																																	0								ENSG00000166016						16	17	17					11																	34194817		2201	4296	6497	ABTB2	SO:0001583	missense	0			-	HGNC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1282C>T	11.37:g.34194817G>A	ENSP00000410157:p.Arg428Cys	Somatic	0	93	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.R428C	ENST00000435224.2	37	c.1282	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419560	0.83559	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.71817	-0.56;-0.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86031	0.1513	10	0.87932	D	0	-15.3747	15.3726	0.74577	0.0:0.0:0.8601:0.1399	.	242	Q8N961	ABTB2_HUMAN	C	428;242	ENSP00000410157:R428C;ENSP00000298992:R242C	ENSP00000298992:R242C	R	-	1	0	ABTB2	34151393	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.500000	0.45381	2.481000	0.83766	0.561000	0.74099	CGC	-	NULL		0.692	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	protein_coding	OTTHUMT00000388703.3	G	NM_145804	-		34194817	-1	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34194817	G	A	34194817	3	1	133	1	0	0	0	0	1	0	0	0	103	1087	38	1	1851	1	ABTB2	11	34194817	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		34194817	100811699	24	10129											
ALKBH3	221120	genome.wustl.edu	37	chr11	43908185	43908185	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgtatgaaatcagcctgtCacccacaggtgtatctaggt	10	9	3	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr11:43908185C>A	ENST00000302708.4	+	5	659	c.248C>A	c.(247-249)tCa>tAa	p.S83*	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Nonsense_Mutation_p.S82*	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	83					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ATCAGCCTGTCACCCACAGGT	0.388								Direct reversal of damage																																									0								ENSG00000166199						150	133	139					11																	43908185		2203	4300	6503	ALKBH3	SO:0001587	stop_gained	0			-	HGNC	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.248C>A	11.37:g.43908185C>A	ENSP00000302232:p.Ser83*	Somatic	0	112	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Nonsense_Mutation	SNP							pfam_Oxoglu/Fe-dep_dioxygenase	p.S83*	ENST00000302708.4	37	c.248	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.329133	0.98762	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000529366	.	.	.	5.54	4.63	0.57726	.	0.520100	0.20634	N	0.088526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0611	10.2077	0.43122	0.0:0.9086:0.0:0.0914	.	.	.	.	X	83;82;82	.	ENSP00000302232:S83X	S	+	2	0	ALKBH3	43864761	0.045000	0.20229	0.995000	0.50966	0.947000	0.59692	0.304000	0.19228	1.335000	0.45486	0.650000	0.86243	TCA	-	NULL		0.388	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	protein_coding	OTTHUMT00000389693.1	C	NM_139178	-		43908185	1	no_errors	ENST00000302708	ensembl	human	known	74_37	nonsense	SNP	0.924	A	A	43908185	C	A	43908185	4	1	133	1	0	0	0	0	0	1	0	0	528	838	29	3	262	3	ALKBH3	11	43908185	Nonsense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	9713368	43908185	91098331	25	10130											
CCDC82	79780	genome.wustl.edu	37	chr11	96116635	96116635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagattccttttcagaGtcctaattaaattaaaataa	6	6	1	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr11:96116635G>T	ENST00000278520.5	-	4	1217	c.789C>A	c.(787-789)gaC>gaA	p.D263E	CCDC82_ENST00000423339.2_Missense_Mutation_p.D263E|CCDC82_ENST00000542662.1_Missense_Mutation_p.D263E			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	263										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CCTTTTCAGAGTCCTAATTAA	0.308																																																	0								ENSG00000149231						64	60	62					11																	96116635		2196	4296	6492	CCDC82	SO:0001583	missense	0			-	HGNC	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.789C>A	11.37:g.96116635G>T	ENSP00000278520:p.Asp263Glu	Somatic	0	62	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP							NULL	p.D263E	ENST00000278520.5	37	c.789	CCDS8307.1	11	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713612	0.15306	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.20881	2.04;2.04;2.04	5.77	1.35	0.21983	.	0.494853	0.20701	N	0.087276	T	0.14399	0.0348	L	0.45581	1.43	0.22531	N	0.999014	B;B	0.29590	0.25;0.036	B;B	0.30572	0.117;0.016	T	0.12760	-1.0535	10	0.28530	T	0.3	-4.7787	2.9379	0.05820	0.3501:0.0:0.4559:0.1939	.	263;263	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	E	263	ENSP00000278520:D263E;ENSP00000444010:D263E;ENSP00000397156:D263E	ENSP00000278520:D263E	D	-	3	2	CCDC82	95756283	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	1.227000	0.32576	0.785000	0.33685	0.579000	0.79373	GAC	-	NULL		0.308	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	protein_coding	OTTHUMT00000395542.2	G	NM_024725	-		96116635	-1	no_errors	ENST00000278520	ensembl	human	known	74_37	missense	SNP	0.998	T	T	96116635	G	T	96116635	3	4	133	1	0	0	0	0	1	0	0	0	2858	1020	36	3	869	3	CCDC82	11	96116635	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	52208450	96116635	38889881	26	10131											
VWA5A	4013	genome.wustl.edu	37	chr11	123989074	123989074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcagatggggctctgcGctttgtgctcccagctgtcc	14	12	1	1	rs560933369		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr11:123989074G>T	ENST00000456829.2	+	5	676	c.425G>T	c.(424-426)cGc>cTc	p.R142L	VWA5A_ENST00000360334.4_Missense_Mutation_p.R142L|VWA5A_ENST00000361352.5_Missense_Mutation_p.R142L|VWA5A_ENST00000449321.1_Missense_Mutation_p.R142L|VWA5A_ENST00000392748.1_Missense_Mutation_p.R142L|VWA5A_ENST00000392744.4_Missense_Mutation_p.R158L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	142								p.R142L(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGGGCTCTGCGCTTTGTGCTC	0.522																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000110002						105	103	104					11																	123989074		2201	4299	6500	VWA5A	SO:0001583	missense	0			-	HGNC	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.425G>T	11.37:g.123989074G>T	ENSP00000407726:p.Arg142Leu	Somatic	0	48	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP							pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R142L	ENST00000456829.2	37	c.425	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189061	0.78789	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.31247	3.29;1.5;3.29;1.89;1.89;1.85	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.81802	2.56	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.72625	0.953;0.978	T	0.59616	-0.7421	10	0.48119	T	0.1	-20.9118	16.9454	0.86228	0.0:0.0:1.0:0.0	.	158;142	B4DHS6;O00534	.;VMA5A_HUMAN	L	142;142;142;142;142;142;142;158	ENSP00000407726:R142L;ENSP00000353485:R142L;ENSP00000376504:R142L;ENSP00000355070:R142L;ENSP00000404683:R142L;ENSP00000376501:R158L	ENSP00000353485:R142L	R	+	2	0	VWA5A	123494284	1.000000	0.71417	0.999000	0.59377	0.219000	0.24729	6.284000	0.72652	2.599000	0.87857	0.655000	0.94253	CGC	-	NULL		0.522	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	protein_coding	OTTHUMT00000387273.1	G	NM_014622	-		123989074	1	no_errors	ENST00000392748	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123989074	G	T	123989074	3	4	133	1	0	0	0	0	1	0	0	0	17249	1087	38	3	435	3	VWA5A	11	123989074	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	27872439	123989074	11017442	27	10132											
WNK1	65125	genome.wustl.edu	37	chr12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A													gttggtacgggaggagcaagINSaaaaaaaaaagcaggaagag							TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					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)	p.?(1)		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)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)						ENSG00000060237																																			WNK1	SO:0001589	frameshift_variant	0				HGNC	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.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs	Somatic	0	58	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			-	NULL		0.47	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	-	NM_018979			970297	1	no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	970297	-	A	970296	7	5	133	1	0	1	1	0	0	0	0	0	17384	943	33	0	1764	0	WNK1	12	970296	Frame_Shift_Ins	INS	-	TCGA-DX-AB3B-01A-11D-A417-09		970296	132881599	28	10133											
SCN8A	6334	genome.wustl.edu	37	chr12	52162854	52162854	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgaagcctctggatgAgttgtatgaaaagaaggcca	14	5	1	5			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr12:52162854A>C	ENST00000354534.6	+	17	3285	c.3107A>C	c.(3106-3108)gAg>gCg	p.E1036A	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1036A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1036					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTCTGGATGAGTTGTATGAA	0.532																																																	0								ENSG00000196876						68	71	70					12																	52162854		2100	4235	6335	SCN8A	SO:0001583	missense	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3107A>C	12.37:g.52162854A>C	ENSP00000346534:p.Glu1036Ala	Somatic	0	43	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E1036A	ENST00000354534.6	37	c.3107	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	A	14.97	2.692875	0.48202	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.83914	-1.78;-1.78;-1.78	4.55	4.55	0.56014	Sodium ion transport-associated (1);	0.311519	0.35207	N	0.003369	D	0.85566	0.5726	M	0.75777	2.31	0.80722	D	1	P;P	0.48834	0.916;0.584	P;B	0.49708	0.62;0.393	D	0.84080	0.0384	10	0.24483	T	0.36	.	14.9638	0.71176	1.0:0.0:0.0:0.0	.	1036;1036	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	A	1036;1036;1036;949	ENSP00000346534:E1036A;ENSP00000440360:E1036A;ENSP00000347255:E1036A	ENSP00000346534:E1036A	E	+	2	0	SCN8A	50449121	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	8.916000	0.92745	2.272000	0.75746	0.460000	0.39030	GAG	-	pfam_Na_trans_assoc,prints_Na_channel_a8su		0.532	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	A	NM_014191	-		52162854	1	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	SNP	1.000	C	C	52162854	A	C	52162854	3	2	133	1	0	0	0	0	1	0	0	0	13932	304	11	5	3169	5	SCN8A	12	52162854	Missense_Mutation	SNP	A	TCGA-DX-AB3B-01A-11D-A417-09	51192558	52162854	81689041	29	10134											
TBC1D4	9882	genome.wustl.edu	37	chr13	75915685	75915685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgtcagtgatgagagatGcctctgtatcaccagcttgg	11	9	4	3			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr13:75915685G>T	ENST00000377636.3	-	6	1793	c.1447C>A	c.(1447-1449)Cat>Aat	p.H483N	TBC1D4_ENST00000431480.2_Missense_Mutation_p.H483N|TBC1D4_ENST00000377625.2_Missense_Mutation_p.H483N|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	483					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)			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)		GATGAGAGATGCCTCTGTATC	0.423																																																	0								ENSG00000136111						99	93	95					13																	75915685		1955	4160	6115	TBC1D4	SO:0001583	missense	0			-	HGNC	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.1447C>A	13.37:g.75915685G>T	ENSP00000366863:p.His483Asn	Somatic	0	37	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.H483N	ENST00000377636.3	37	c.1447	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146715	0.77888	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03801	3.82;3.8;3.85	5.78	5.78	0.91487	.	0.350840	0.27388	N	0.019588	T	0.14787	0.0357	M	0.62723	1.935	0.80722	D	1	P;P;P	0.44521	0.837;0.835;0.745	P;P;B	0.49637	0.617;0.571;0.276	T	0.00015	-1.2397	10	0.72032	D	0.01	-27.4662	20.3681	0.98887	0.0:0.0:1.0:0.0	.	483;483;483	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	N	483	ENSP00000366863:H483N;ENSP00000395986:H483N;ENSP00000366852:H483N	ENSP00000366852:H483N	H	-	1	0	TBC1D4	74813686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.708000	0.68377	2.890000	0.99128	0.655000	0.94253	CAT	-	NULL		0.423	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	protein_coding	OTTHUMT00000045283.1	G	NM_014832	-		75915685	-1	no_errors	ENST00000377636	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75915685	G	T	75915685	3	4	133	1	0	0	0	0	1	0	0	0	15629	1319	46	3	2513	3	TBC1D4	13	75915685	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		75915685	39254193	30	10135											
COL4A2	1284	genome.wustl.edu	37	chr13	111114646	111114646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggggacagcccggcgTcccaggtgtgcccgggatga	18	12	0	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr13:111114646T>C	ENST00000360467.5	+	24	1997	c.1691T>C	c.(1690-1692)gTc>gCc	p.V564A	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	564	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGCCCGGCGTCCCAGGTGTG	0.672																																																	0								ENSG00000134871						46	56	53					13																	111114646		1966	4143	6109	COL4A2	SO:0001583	missense	0			-	HGNC	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1691T>C	13.37:g.111114646T>C	ENSP00000353654:p.Val564Ala	Somatic	0	115	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V564A	ENST00000360467.5	37	c.1691	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	T	4.954	0.177282	0.09443	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93307	-3.2	5.48	4.25	0.50352	.	1.028630	0.07738	N	0.946311	D	0.84497	0.5485	N	0.10972	0.075	0.19575	N	0.999967	B	0.23377	0.084	B	0.19148	0.024	T	0.70651	-0.4813	10	0.09084	T	0.74	.	9.8873	0.41268	0.2466:0.0:0.0:0.7534	.	564	P08572	CO4A2_HUMAN	A	564	ENSP00000353654:V564A	ENSP00000257309:V564A	V	+	2	0	COL4A2	109912647	0.862000	0.29867	0.851000	0.33527	0.775000	0.43874	1.086000	0.30853	2.084000	0.62774	0.533000	0.62120	GTC	-	NULL		0.672	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	T	NM_001846	-		111114646	1	no_errors	ENST00000360467	ensembl	human	known	74_37	missense	SNP	0.733	C	C	111114646	T	C	111114646	3	2	133	1	0	0	0	0	1	0	0	0	3692	1667	58	5	1781	5	COL4A2	13	111114646	Missense_Mutation	SNP	T	TCGA-DX-AB3B-01A-11D-A417-09	35198961	111114646	4055232	31	10136											
KHNYN	23351	genome.wustl.edu	37	chr14	24900739	24900739	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccaaactgcactgcaTctttctgggagcccagggct	10	16	2	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr14:24900739T>A	ENST00000251343.5	+	3	411	c.272T>A	c.(271-273)aTc>aAc	p.I91N	CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.I91N|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.I91N			O15037	KHNYN_HUMAN	KH and NYN domain containing	91							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGCACTGCATCTTTCTGGGA	0.597											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100441						53	47	49					14																	24900739		2203	4300	6503	KHNYN	SO:0001583	missense	0			-	HGNC	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.272T>A	14.37:g.24900739T>A	ENSP00000251343:p.Ile91Asn	Somatic	0	60	0	774	0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP							pfam_RNase_Zc3h12	p.I91N	ENST00000251343.5	37	c.272	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880195	0.72294	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.03	3.88	0.44766	.	0.200125	0.41605	D	0.000860	T	0.52837	0.1759	M	0.65975	2.015	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.56398	0.797;0.797	T	0.54892	-0.8225	10	0.87932	D	0	.	8.9124	0.35561	0.0:0.0901:0.0:0.9099	.	132;91	D3DS77;O15037	.;KHNYN_HUMAN	N	91	ENSP00000251343:I91N;ENSP00000451106:I91N;ENSP00000450799:I91N;ENSP00000451004:I91N	ENSP00000251343:I91N	I	+	2	0	KHNYN	23970579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.684000	0.68197	0.878000	0.35920	0.460000	0.39030	ATC	-	NULL		0.597	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	protein_coding	OTTHUMT00000412928.1	T		-		24900739	1	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24900739	T	A	24900739	3	1	133	1	0	0	0	0	1	0	0	0	8152	1435	50	5	278	5	KHNYN	14	24900739	Missense_Mutation	SNP	T	TCGA-DX-AB3B-01A-11D-A417-09		24900739	82448801	32	10137											
LRFN5	145581	genome.wustl.edu	37	chr14	42356845	42356845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctctggtgtatgataaCggaacacttgacattcttat	8	7	2	3			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr14:42356845C>T	ENST00000298119.4	+	3	2206	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N	LRFN5_ENST00000554171.1_Silent_p.N339N|LRFN5_ENST00000554120.1_Silent_p.N339N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	339	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTATGATAACGGAACACTTG	0.448										HNSCC(30;0.082)																																							0								ENSG00000165379						126	122	124					14																	42356845		2203	4300	6503	LRFN5	SO:0001819	synonymous_variant	0			-	HGNC	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1017C>T	14.37:g.42356845C>T		Somatic	0	112	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.22	B3KU78|Q86XL2	Silent	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N339	ENST00000298119.4	37	c.1017	CCDS9678.1	14																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.448	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	protein_coding	OTTHUMT00000276786.1	C	NM_152447	-		42356845	1	no_errors	ENST00000298119	ensembl	human	known	74_37	silent	SNP	0.999	T	T	42356845	C	T	42356845	2	4	133	1	0	0	0	0	0	0	0	1	8943	535	19	1		1	LRFN5	14	42356845	Silent	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	17456106	42356845	64992695	33	10138											
PLA2G4E	123745	genome.wustl.edu	37	chr15	42302375	42302375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccttcaggtctgtctccGgtacgctgggagcctgcagg	13	14	3	0	rs535569211		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr15:42302375G>A	ENST00000413860.2	-	1	70	c.71C>T	c.(70-72)cCg>cTg	p.P24L	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	34					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|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)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTCTGTCTCCGGTACGCTGGG	0.602													G|||	1	0.000199681	0	0	5008	,	,		14077	0.001		0	False		,,,				2504	0																0								ENSG00000188089						74	84	81					15																	42302375		1874	4099	5973	PLA2G4E	SO:0001583	missense	0			-	HGNC		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.71C>T	15.37:g.42302375G>A	ENSP00000413897:p.Pro24Leu	Somatic	0	161	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	136	11.61	Q6ZSC0	Missense_Mutation	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P24L	ENST00000413860.2	37	c.71		15	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023309	0.19433	.	.	ENSG00000188089	ENST00000413860	T	0.01484	4.84	3.51	1.18	0.20946	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.24317	0.101	B	0.14578	0.011	T	0.47032	-0.9148	8	0.72032	D	0.01	.	3.8465	0.08937	0.0:0.1175:0.2228:0.6597	.	24	C9JK77	.	L	24	ENSP00000413897:P24L	ENSP00000413897:P24L	P	-	2	0	PLA2G4E	40089667	0.013000	0.17824	0.005000	0.12908	0.001000	0.01503	0.522000	0.22909	0.237000	0.21200	-0.364000	0.07487	CCG	-	NULL		0.602	PLA2G4E-201	KNOWN	basic	protein_coding	PLA2G4E	protein_coding		G	NM_198442	-		42302375	-1	no_errors	ENST00000413860	ensembl	human	known	74_37	missense	SNP	0.006	A	A	42302375	G	A	42302375	3	1	133	1	0	0	0	0	1	0	0	0	12007	1116	39	1	2524	1	PLA2G4E	15	42302375	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		42302375	60229017	34	10139											
VPS39	23339	genome.wustl.edu	37	chr15	42479973	42479973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctgcaattcatgaaattCcctgtccttccagaaataga	5	11	1	3			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr15:42479973C>T	ENST00000348544.4	-	7	456	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	VPS39_ENST00000318006.5_Missense_Mutation_p.E142K			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	153	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TCATGAAATTCCCTGTCCTTC	0.512																																																	0								ENSG00000166887						228	227	228					15																	42479973		2203	4299	6502	VPS39	SO:0001583	missense	0			-	HGNC	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.457G>A	15.37:g.42479973C>T	ENSP00000335193:p.Glu153Lys	Somatic	0	54	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP							pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.E153K	ENST00000348544.4	37	c.457	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323359	0.60634	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.16597	2.33;2.33	4.95	4.95	0.65309	Citron-like (2);	0.056898	0.64402	D	0.000001	T	0.19087	0.0458	L	0.45581	1.43	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.15052	0.012;0.007	T	0.03000	-1.1084	10	0.30854	T	0.27	-10.1613	18.5746	0.91150	0.0:1.0:0.0:0.0	.	153;142	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	K	142;153	ENSP00000326534:E142K;ENSP00000335193:E153K	ENSP00000326534:E142K	E	-	1	0	VPS39	40267265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.359000	0.79477	2.449000	0.82847	0.655000	0.94253	GAA	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron		0.512	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	protein_coding	OTTHUMT00000420472.1	C	NM_015289	-		42479973	-1	no_errors	ENST00000348544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42479973	C	T	42479973	3	4	133	1	0	0	0	0	1	0	0	0	17216	864	30	2	2283	2	VPS39	15	42479973	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	177598	42479973	60051419	35	10140											
FBN1	2200	genome.wustl.edu	37	chr15	48707925	48707925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgttgtgacaggagGctcctccgcagatgtgagcg	16	10	0	3			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr15:48707925G>T	ENST00000316623.5	-	64	8314	c.7859C>A	c.(7858-7860)gCc>gAc	p.A2620D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2620	EGF-like 46; 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)		GTGACAGGAGGCTCCTCCGCA	0.522																																																	0								ENSG00000166147						93	86	88					15																	48707925		2198	4296	6494	FBN1	SO:0001583	missense	0			-	HGNC	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.7859C>A	15.37:g.48707925G>T	ENSP00000325527:p.Ala2620Asp	Somatic	0	61	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.A2620D	ENST00000316623.5	37	c.7859	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.733250	0.96856	.	.	ENSG00000166147	ENST00000316623	D	0.87809	-2.3	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.049117	0.85682	D	0.000000	D	0.93468	0.7916	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93356	0.6722	10	0.62326	D	0.03	.	18.8343	0.92155	0.0:0.0:1.0:0.0	.	2620	P35555	FBN1_HUMAN	D	2620	ENSP00000325527:A2620D	ENSP00000325527:A2620D	A	-	2	0	FBN1	46495217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.745000	0.94114	0.655000	0.94253	GCC	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.522	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	G		-		48707925	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48707925	G	T	48707925	3	4	133	1	0	0	0	0	1	0	0	0	5704	1203	42	3	768	3	FBN1	15	48707925	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	6227952	48707925	53823467	36	10141											
SLC5A2	6524	genome.wustl.edu	37	chr16	31501432	31501432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctccccagctccaccGcctggtcttcagtctccggc	7	22	3	0	rs369673274		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr16:31501432G>A	ENST00000330498.3	+	13	1692	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	558					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CAGCTCCACCGCCTGGTCTTC	0.622																																																	0								ENSG00000140675	G	HIS/ARG,	0,4394		0,0,2197	58	48	51		1673,	5.2	1	16		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	SLC5A2,C16orf58	NM_003041.3,NM_022744.2	29,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	558/673,	31501432	1,12993	2197	4300	6497	SLC5A2	SO:0001583	missense	0			-	HGNC		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1673G>A	16.37:g.31501432G>A	ENSP00000327943:p.Arg558His	Somatic	0	70	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	A2RRD2	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R558H	ENST00000330498.3	37	c.1673	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977132	0.92982	0.0	1.16E-4	ENSG00000140675	ENST00000330498	D	0.81821	-1.54	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.69523	2.12	0.80722	D	1	P	0.52061	0.95	P	0.46339	0.513	D	0.84734	0.0747	10	0.52906	T	0.07	.	16.2719	0.82626	0.0:0.0:1.0:0.0	.	558	P31639	SC5A2_HUMAN	H	558	ENSP00000327943:R558H	ENSP00000327943:R558H	R	+	2	0	SLC5A2	31408933	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.029000	0.93718	2.434000	0.82447	0.561000	0.74099	CGC	-	NULL		0.622	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	protein_coding	OTTHUMT00000255627.2	G		-		31501432	1	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31501432	G	A	31501432	3	1	133	1	0	0	0	0	1	0	0	0	14673	1087	38	1	1723	1	SLC5A2	16	31501432	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		31501432	58853321	37	10142											
TMCO7	79613	genome.wustl.edu	37	chr16	68894024	68894024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaggaaaccatgatccGccttgcagctaatttcaatc	7	11	1	2	rs199965791		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr16:68894024G>A	ENST00000261778.1	+	2	344	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	111						integral component of membrane (GO:0016021)											ACCATGATCCGCCTTGCAGCT	0.478													g|||	1	0.000199681	0	0	5008	,	,		19778	0		0	False		,,,				2504	0.001																0								ENSG00000103047	T	HIS/ARG	5,3905		0,5,1950	189	182	185		332	-10.2	0	16		185	16,8292		0,16,4138	yes	missense	TMCO7	NM_024562.1	29	0,21,6088	AA,AG,GG		0.1926,0.1279,0.1719	benign	111/1095	68894024	21,12197	1955	4154	6109	TANGO6	SO:0001583	missense	0			-	HGNC		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.332G>A	16.37:g.68894024G>A	ENSP00000261778:p.Arg111His	Somatic	0	56	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	Q569F9|Q9H9K1	Missense_Mutation	SNP							pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.R111H	ENST00000261778.1	37	c.332	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	g	0.033	-1.320855	0.01320	0.001279	0.001926	ENSG00000103047	ENST00000261778	.	.	.	5.41	-10.2	0.00374	.	.	.	.	.	T	0.13200	0.0320	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29518	-1.0009	8	0.41790	T	0.15	0.4957	6.6906	0.23169	0.4194:0.0:0.2917:0.2888	.	111	Q9C0B7	TMCO7_HUMAN	H	111	.	ENSP00000261778:R111H	R	+	2	0	TMCO7	67451525	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.628000	0.05515	-2.002000	0.00963	-3.105000	0.00063	CGC	-	NULL		0.478	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2	rs199965791		68894024	1	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	SNP	0.000	A	A	68894024	G	A	68894024	3	1	133	1	0	0	0	0	1	0	0	0	16008	1087	38	1	338	1	TMCO7	16	68894024	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	37392592	68894024	21460729	38	10143											
KIAA0513	9764	genome.wustl.edu	37	chr16	85114948	85114948	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggttctggaatgcagcCttttttgacgctgtccattg	11	9	1	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr16:85114948C>A	ENST00000566428.1	+	9	1561	c.930C>A	c.(928-930)gcC>gcA	p.A310A	KIAA0513_ENST00000538274.1_Silent_p.A310A|KIAA0513_ENST00000258180.3_Silent_p.A310A			O60268	K0513_HUMAN	KIAA0513	310						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGAATGCAGCCTTTTTTGACG	0.577																																																	0								ENSG00000135709						70	53	58					16																	85114948		2198	4300	6498	KIAA0513	SO:0001819	synonymous_variant	0			-	HGNC	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.930C>A	16.37:g.85114948C>A		Somatic	0	57	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B4DSS5|D3DUM2|Q8N6G0	Silent	SNP							pfam_SBF2	p.A310	ENST00000566428.1	37	c.930	CCDS32499.1	16																																																																																			-	pfam_SBF2		0.577	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	protein_coding	OTTHUMT00000432736.1	C	NM_014732	-		85114948	1	no_errors	ENST00000258180	ensembl	human	known	74_37	silent	SNP	0.963	A	A	85114948	C	A	85114948	2	1	133	1	0	0	0	0	0	0	0	1	8183	668	24	3		3	KIAA0513	16	85114948	Silent	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	16220924	85114948	5239805	39	10144											
PIGS	94005	genome.wustl.edu	37	chr17	26883895	26883895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattggtggccactggagCgccatccttgtcctgaatgt	13	11	0	1	rs35452097	byFrequency	TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr17:26883895C>T	ENST00000308360.7	-	9	1405	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.A336T|PIGS_ENST00000543734.1_Missense_Mutation_p.A283T	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	344					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCACTGGAGCGCCATCCTTG	0.562																																																	0								ENSG00000087111						91	74	80					17																	26883895		2203	4300	6503	PIGS	SO:0001583	missense	0			-	HGNC		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1030G>A	17.37:g.26883895C>T	ENSP00000309430:p.Ala344Thr	Somatic	0	51	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q6UVX6	Missense_Mutation	SNP							pfam_PtdIno-glycan_biosynth_class_S	p.A344T	ENST00000308360.7	37	c.1030	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	C	9.841	1.190967	0.21954	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41400	1.0;1.0;1.0	5.49	4.52	0.55395	.	0.496728	0.24703	N	0.036293	T	0.28001	0.0690	L	0.36672	1.1	0.20196	N	0.999924	B;B	0.14438	0.01;0.008	B;B	0.14023	0.01;0.006	T	0.18178	-1.0345	10	0.13853	T	0.58	-0.1878	6.8792	0.24163	0.1412:0.7142:0.0:0.1445	.	344;336	Q96S52;Q96S52-2	PIGS_HUMAN;.	T	336;344;283	ENSP00000378755:A336T;ENSP00000309430:A344T;ENSP00000438447:A283T	ENSP00000309430:A344T	A	-	1	0	PIGS	23908022	0.834000	0.29399	0.949000	0.38748	0.881000	0.50899	1.411000	0.34702	1.450000	0.47717	0.655000	0.94253	GCT	-	pfam_PtdIno-glycan_biosynth_class_S		0.562	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	protein_coding	OTTHUMT00000255833.3	C	NM_033198	-		26883895	-1	no_errors	ENST00000308360	ensembl	human	known	74_37	missense	SNP	0.292	T	T	26883895	C	T	26883895	3	4	133	1	0	0	0	0	1	0	0	0	11900	768	27	1	653	1	PIGS	17	26883895	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		26883895	54311315	40	10145											
COL1A1	1277	genome.wustl.edu	37	chr17	48274395	48274395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccttcattccagggagGccagctgttccgggcaatcc	11	14	1	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr17:48274395G>A	ENST00000225964.5	-	11	898	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	260	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TTCCAGGGAGGCCAGCTGTTC	0.527			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0								ENSG00000108821						73	74	74					17																	48274395		2203	4300	6503	COL1A1	SO:0001819	synonymous_variant	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.780C>T	17.37:g.48274395G>A		Somatic	0	113	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G260	ENST00000225964.5	37	c.780	CCDS11561.1	17																																																																																			-	pfam_Collagen		0.527	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	G		-		48274395	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	silent	SNP	0.992	A	A	48274395	G	A	48274395	2	1	133	1	0	0	0	0	0	0	0	1	3679	1190	42	2		2	COL1A1	17	48274395	Silent	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	21390500	48274395	32920815	41	10146											
LAMA1	284217	genome.wustl.edu	37	chr18	7015825	7015825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acactctccagtttctgggtCgcaggtattctgagtgtgtg	12	9	3	1	rs201891641		TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr18:7015825C>A	ENST00000389658.3	-	22	3115	c.3022G>T	c.(3022-3024)Gac>Tac	p.D1008Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1008	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)				GTTTCTGGGTCGCAGGTATTC	0.532																																																	0								ENSG00000101680						117	110	112					18																	7015825		2203	4300	6503	LAMA1	SO:0001583	missense	0			-	HGNC	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.3022G>T	18.37:g.7015825C>A	ENSP00000374309:p.Asp1008Tyr	Somatic	0	45	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D1008Y	ENST00000389658.3	37	c.3022	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814980	0.32053	.	.	ENSG00000101680	ENST00000389658	T	0.58797	0.31	5.09	4.21	0.49690	EGF-like, laminin (3);	0.205916	0.39341	N	0.001383	T	0.78336	0.4267	H	0.94847	3.59	0.47819	D	0.999525	D	0.71674	0.998	D	0.67900	0.954	T	0.80455	-0.1375	10	0.87932	D	0	.	6.7961	0.23727	0.0:0.6895:0.1562:0.1543	.	1008	P25391	LAMA1_HUMAN	Y	1008	ENSP00000374309:D1008Y	ENSP00000374309:D1008Y	D	-	1	0	LAMA1	7005825	0.935000	0.31712	0.933000	0.37362	0.022000	0.10575	0.853000	0.27777	1.254000	0.44035	0.643000	0.83706	GAC	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	C	NM_005559	-		7015825	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7015825	C	A	7015825	3	1	133	1	0	0	0	0	1	0	0	0	8607	884	31	3	6373	3	LAMA1	18	7015825	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		7015825	71061423	42	10147											
DSG2	1829	genome.wustl.edu	37	chr18	29126561	29126561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgaaaattctatgacggCtaggaacaccacggtgtctg	10	10	2	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr18:29126561C>A	ENST00000261590.8	+	15	3421	c.3212C>A	c.(3211-3213)gCt>gAt	p.A1071D	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1071					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)			TCTATGACGGCTAGGAACACC	0.473																																																	0								ENSG00000046604						90	86	87					18																	29126561		1900	4138	6038	DSG2	SO:0001583	missense	0			-	HGNC	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.3212C>A	18.37:g.29126561C>A	ENSP00000261590:p.Ala1071Asp	Somatic	0	68	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q4KKU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.A1071D	ENST00000261590.8	37	c.3212	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586387	0.13749	.	.	ENSG00000046604	ENST00000261590	T	0.81247	-1.47	5.23	2.14	0.27477	.	1.074500	0.07151	N	0.849183	T	0.64800	0.2631	N	0.22421	0.69	0.09310	N	0.999999	P	0.42409	0.779	B	0.34242	0.178	T	0.55283	-0.8165	10	0.48119	T	0.1	.	5.2932	0.15739	0.1369:0.5985:0.0:0.2645	.	1071	Q14126	DSG2_HUMAN	D	1071	ENSP00000261590:A1071D	ENSP00000261590:A1071D	A	+	2	0	DSG2	27380559	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.181000	0.16880	0.315000	0.23110	-0.140000	0.14226	GCT	-	NULL		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	C	NM_001943	-		29126561	1	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	SNP	0.000	A	A	29126561	C	A	29126561	3	1	133	1	0	0	0	0	1	0	0	0	4779	797	28	3	3270	3	DSG2	18	29126561	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	22110736	29126561	48950687	43	10148											
TULP2	7288	genome.wustl.edu	37	chr19	49399789	49399789	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctggcgcttctgtcGctgcttcttttcaaacagcc	9	14	3	0			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chr19:49399789G>C	ENST00000221399.3	-	4	253	c.109C>G	c.(109-111)Cga>Gga	p.R37G		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	37					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CGCTTCTGTCGCTGCTTCTTT	0.612																																																	0								ENSG00000104804						37	38	37					19																	49399789		2203	4300	6503	TULP2	SO:0001583	missense	0			-	HGNC	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.109C>G	19.37:g.49399789G>C	ENSP00000221399:p.Arg37Gly	Somatic	0	111	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	90	23.08	Q8TC50	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.R37G	ENST00000221399.3	37	c.109	CCDS12739.1	19	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793606	0.70452	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977	D;T;T;T	0.87887	-2.31;1.48;0.8;-0.32	5.03	3.93	0.45458	Tubby, N-terminal (1);	0.861105	0.10352	N	0.684980	D	0.91415	0.7291	L	0.54323	1.7	0.38078	D	0.936599	D	0.89917	1.0	D	0.87578	0.998	D	0.89897	0.4041	10	0.87932	D	0	-16.2267	11.4063	0.49900	0.0:0.0:0.7276:0.2724	.	37	O00295	TULP2_HUMAN	G	37;37;37;18	ENSP00000221399:R37G;ENSP00000428420:R37G;ENSP00000430040:R37G;ENSP00000428535:R18G	ENSP00000221399:R37G	R	-	1	2	TULP2	54091601	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.660000	0.37397	2.499000	0.84300	0.596000	0.82720	CGA	-	prints_Tubby_N		0.612	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	protein_coding	OTTHUMT00000378633.1	G	NM_003323	-		49399789	-1	no_errors	ENST00000221399	ensembl	human	known	74_37	missense	SNP	1.000	C	C	49399789	G	C	49399789	3	2	133	1	0	0	0	0	1	0	0	0	16781	1095	38	4	1493	4	TULP2	19	49399789	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09		49399789	9729194	44	10149											
DMD	1756	genome.wustl.edu	37	chrX	32328228	32328228	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctcttgcttaaagagatCttcaaagtccttagcacaga	6	11	3	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chrX:32328228C>A	ENST00000357033.4	-	42	6294	c.6088G>T	c.(6088-6090)Gat>Tat	p.D2030Y	DMD_ENST00000378677.2_Missense_Mutation_p.D2026Y	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	2030					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)				TTAAAGAGATCTTCAAAGTCC	0.393																																																	0								ENSG00000198947						100	83	89					X																	32328228		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.6088G>T	X.37:g.32328228C>A	ENSP00000354923:p.Asp2030Tyr	Somatic	0	94	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D2030Y	ENST00000357033.4	37	c.6088	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455774	0.63401	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51574	0.7;0.7	6.16	4.41	0.53225	.	0.000000	0.38164	U	0.001785	T	0.61476	0.2350	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.975;0.999;0.971;0.986	D;P;D;P;D	0.66847	0.912;0.832;0.947;0.837;0.923	T	0.64232	-0.6456	10	0.87932	D	0	.	9.7416	0.40422	0.0:0.7782:0.0:0.2218	.	2022;2030;2026;689;686	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Y	2022;689;686;2026;2030;2030;1907	ENSP00000367948:D2026Y;ENSP00000354923:D2030Y	ENSP00000354923:D2030Y	D	-	1	0	DMD	32238149	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.339000	0.43965	1.356000	0.45884	-0.197000	0.12766	GAT	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	C	NM_004006	-		32328228	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32328228	C	A	32328228	3	1	133	1	0	0	0	0	1	0	0	0	4582	913	32	3	5269	3	DMD	23	32328228	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09		32328228	122942332	45	10150											
CACNA1F	778	genome.wustl.edu	37	chrX	49063082	49063082	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatggtgaaggagggcttccGacctgggggtgggtggggca	22	6	0	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chrX:49063082G>T	ENST00000376265.2	-	46	5456	c.5395C>A	c.(5395-5397)Cgg>Agg	p.R1799R	CACNA1F_ENST00000323022.5_Silent_p.R1788R|CACNA1F_ENST00000376251.1_Silent_p.R1734R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1799					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGGGCTTCCGACCTGGGGGT	0.617																																																	0								ENSG00000102001						36	36	36					X																	49063082		2203	4300	6503	CACNA1F	SO:0001819	synonymous_variant	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5395C>A	X.37:g.49063082G>T		Somatic	0	81	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1799	ENST00000376265.2	37	c.5395	CCDS35253.1	X																																																																																			-	NULL		0.617	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	G	NM_005183	-		49063082	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	silent	SNP	0.054	T	T	49063082	G	T	49063082	2	4	133	1	0	0	0	0	0	0	0	1	2545	1057	37	3		3	CACNA1F	23	49063082	Silent	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	16734854	49063082	106207478	46	10151											
ARMCX1	51309	genome.wustl.edu	37	chrX	100808828	100808828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcttggactcagctgtgcaGatggctgggctaagactgtt	14	9	1	2			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chrX:100808828G>T	ENST00000372829.3	+	4	1286	c.915G>T	c.(913-915)caG>caT	p.Q305H		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	305						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGCTGTGCAGATGGCTGGGC	0.423																																																	0								ENSG00000126947						146	99	115					X																	100808828		2203	4300	6503	ARMCX1	SO:0001583	missense	0			-	HGNC	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.915G>T	X.37:g.100808828G>T	ENSP00000361917:p.Gln305His	Somatic	0	53	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q53HK2|Q9H2Q0	Missense_Mutation	SNP							pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q305H	ENST00000372829.3	37	c.915	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	g	13.87	2.366709	0.41902	.	.	ENSG00000126947	ENST00000372829;ENST00000538894	T	0.58358	0.34	3.21	2.34	0.29019	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.66939	2.045	0.42436	D	0.992698	D	0.89917	1.0	D	0.91635	0.999	T	0.62718	-0.6795	10	0.56958	D	0.05	-7.4303	5.558	0.17127	0.1573:0.0:0.8427:0.0	.	305	Q9P291	ARMX1_HUMAN	H	305;10	ENSP00000361917:Q305H	ENSP00000361917:Q305H	Q	+	3	2	ARMCX1	100695484	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.300000	0.33436	0.741000	0.32674	0.544000	0.68410	CAG	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.423	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	protein_coding	OTTHUMT00000057561.1	G	NM_016608	-		100808828	1	no_errors	ENST00000372829	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100808828	G	T	100808828	3	4	133	1	0	0	0	0	1	0	0	0	959	933	33	3	917	3	ARMCX1	23	100808828	Missense_Mutation	SNP	G	TCGA-DX-AB3B-01A-11D-A417-09	51745746	100808828	54461732	47	10152											
AMOT	154796	genome.wustl.edu	37	chrX	112022705	112022705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcagtgatggcggcagCagtggcggcagcagcaactg	18	9	0	1			TCGA-DX-AB3B-01A-11D-A417-09	TCGA-DX-AB3B-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9b24025-5517-4601-92e6-ac6efaa9a84e	3b8655dd-4366-43f9-bac6-f57cc09f3ea4	g.chrX:112022705C>T	ENST00000524145.1	-	11	2751	c.2677G>A	c.(2677-2679)Gct>Act	p.A893T	AMOT_ENST00000371959.3_Missense_Mutation_p.A893T|AMOT_ENST00000371962.1_Missense_Mutation_p.A661T|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000304758.1_Missense_Mutation_p.A484T			Q4VCS5	AMOT_HUMAN	angiomotin	893					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)			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						atggcggcagcagtggcggca	0.597																																																	0								ENSG00000126016						57	32	41					X																	112022705		2132	4152	6284	AMOT	SO:0001583	missense	0			-	HGNC	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.2677G>A	X.37:g.112022705C>T	ENSP00000429013:p.Ala893Thr	Somatic	0	23	0		0.581410708824599				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP							pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.A893T	ENST00000524145.1	37	c.2677	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366066	0.41902	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.38560	1.13;2.06;2.29;2.06	5.13	2.31	0.28768	.	0.536026	0.17276	N	0.180197	T	0.25754	0.0627	L	0.44542	1.39	0.26936	N	0.96635	B	0.15473	0.013	B	0.08055	0.003	T	0.12578	-1.0542	10	0.13853	T	0.58	-0.4587	1.8119	0.03092	0.1793:0.4853:0.1715:0.1639	.	893	Q4VCS5	AMOT_HUMAN	T	484;893;661;893;133	ENSP00000305557:A484T;ENSP00000361027:A893T;ENSP00000361030:A661T;ENSP00000429013:A893T	ENSP00000305557:A484T	A	-	1	0	AMOT	111909361	0.127000	0.22367	0.994000	0.49952	0.934000	0.57294	0.604000	0.24164	0.928000	0.37168	0.529000	0.55759	GCT	-	NULL		0.597	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	C	NM_133265	-		112022705	-1	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	SNP	0.660	T	T	112022705	C	T	112022705	3	4	133	1	0	0	0	0	1	0	0	0	582	710	25	2	585	2	AMOT	23	112022705	Missense_Mutation	SNP	C	TCGA-DX-AB3B-01A-11D-A417-09	11213877	112022705	43247855	48	10153											
CRABP2	1382	genome.wustl.edu	37	chr1	156670772	156670772	+	Frame_Shift_Del	DEL	C	C	-													ttttgatgtagaaagtgtctCcctcctgtttgatctccact							TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr1:156670772delC	ENST00000368222.3	-	2	297	c.143delG	c.(142-144)ggafs	p.G48fs	CRABP2_ENST00000368221.1_Frame_Shift_Del_p.G48fs	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	48					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	GAAAGTGTCTCCCTCCTGTTT	0.552																																																	0								ENSG00000143320						145	122	130					1																	156670772		2203	4300	6503	CRABP2	SO:0001589	frameshift_variant	0				HGNC	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"Fatty acid binding protein family"	2339	protein-coding gene	gene with protein product		180231	"cellular retinoic acid-binding protein 2"			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.143delG	1.37:g.156670772delC	ENSP00000357205:p.Gly48fs	Somatic	0	16	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	B2R4Z8|D3DVC5|F1T098|Q6ICN6	Frame_Shift_Del	DEL							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.G48fs	ENST00000368222.3	37	c.143	CCDS1152.1	1																																																																																			-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.552	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRABP2	protein_coding	OTTHUMT00000098966.1	C	NM_001878			156670772	-1	no_errors	ENST00000368221	ensembl	human	known	74_37	frame_shift_del	DEL	0.696	-	-	156670772	C	-	156670772	7	5	134	1	0	1	0	1	0	0	0	0	3846	855	30	0	285	0	CRABP2	1	156670772	Frame_Shift_Del	DEL	C	TCGA-DX-AB3C-01A-11D-A417-09		156670772	92579849	1	10154											
IGFN1	91156	genome.wustl.edu	37	chr1	201177421	201177421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcctcagaggccctgGgggcctttggagaaggaggc	17	10	2	3			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr1:201177421G>T	ENST00000335211.4	+	12	3530	c.3400G>T	c.(3400-3402)Ggg>Tgg	p.G1134W	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGGCCCTGGGGGCCTTTGG	0.587																																																	0								ENSG00000163395						4	4	4					1																	201177421		671	1555	2226	IGFN1	SO:0001583	missense	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3400G>T	1.37:g.201177421G>T	ENSP00000334714:p.Gly1134Trp	Somatic	0	24	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	F8WAI1|Q9NT72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1134W	ENST00000335211.4	37	c.3400	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925885	0.52759	.	.	ENSG00000163395	ENST00000335211	D	0.91792	-2.91	3.62	3.62	0.41486	.	.	.	.	.	D	0.84831	0.5559	N	0.08118	0	0.45477	D	0.998445	.	.	.	.	.	.	T	0.81883	-0.0728	6	.	.	.	.	13.6291	0.62186	0.0:0.0:1.0:0.0	.	.	.	.	W	1134	ENSP00000334714:G1134W	.	G	+	1	0	IGFN1	199444044	0.164000	0.22935	0.272000	0.24630	0.261000	0.26267	3.263000	0.51546	1.967000	0.57214	0.485000	0.47835	GGG	-	NULL		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		G	NM_178275	-		201177421	1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	0.352	T	T	201177421	G	T	201177421	3	4	134	1	0	0	0	0	1	0	0	0	7592	1232	43	3	3442	3	IGFN1	1	201177421	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09	44506649	201177421	48073200	2	10155											
FAM135A	57579	genome.wustl.edu	37	chr6	71234535	71234535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaactaatacagagagaaCtgaacaaaagtctccagata	7	9	1	4			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr6:71234535C>T	ENST00000418814.2	+	15	2362	c.1748C>T	c.(1747-1749)aCt>aTt	p.T583I	FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.T583I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	583										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ACAGAGAGAACTGAACAAAAG	0.388																																																	0								ENSG00000082269						59	57	58					6																	71234535		692	1591	2283	FAM135A	SO:0001583	missense	0			-	HGNC	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1748C>T	6.37:g.71234535C>T	ENSP00000410768:p.Thr583Ile	Somatic	0	70	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP							pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.T583I	ENST00000418814.2	37	c.1748	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252043	0.22880	.	.	ENSG00000082269	ENST00000418814;ENST00000505868	T;T	0.19669	2.14;2.13	5.53	4.65	0.58169	.	0.344461	0.34906	N	0.003591	T	0.10078	0.0247	L	0.50333	1.59	0.80722	D	1	P	0.43477	0.808	B	0.39419	0.299	T	0.05370	-1.0889	10	0.35671	T	0.21	.	10.9388	0.47262	0.2541:0.6219:0.124:0.0	.	583	Q9P2D6	F135A_HUMAN	I	583	ENSP00000410768:T583I;ENSP00000423307:T583I	ENSP00000410768:T583I	T	+	2	0	FAM135A	71291256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.938000	0.28965	1.446000	0.47643	0.561000	0.74099	ACT	-	NULL		0.388	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	protein_coding	OTTHUMT00000041137.2	C	NM_020819	-		71234535	1	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71234535	C	T	71234535	3	4	134	1	0	0	0	0	1	0	0	0	5450	565	20	2	1876	2	FAM135A	6	71234535	Missense_Mutation	SNP	C	TCGA-DX-AB3C-01A-11D-A417-09		71234535	99880532	3	10156											
IQUB	154865	genome.wustl.edu	37	chr7	123143075	123143075	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttccagcattgtgatactCtactcctgttactttatgtc	6	10	1	1			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr7:123143075C>A	ENST00000466202.1	-	5	1366	c.790G>T	c.(790-792)Gag>Tag	p.E264*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.E264*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E264*|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	264					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTGTGATACTCTACTCCTGTT	0.383																																																	0								ENSG00000164675						117	117	117					7																	123143075		2202	4300	6502	IQUB	SO:0001587	stop_gained	0			-	HGNC	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.790G>T	7.37:g.123143075C>A	ENSP00000417769:p.Glu264*	Somatic	0	51	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP							pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.E264*	ENST00000466202.1	37	c.790	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.938942	0.97128	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.31	5.31	0.75309	.	0.070422	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3428	0.94350	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000324882:E264X	E	-	1	0	IQUB	122930311	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.951000	0.70273	2.637000	0.89404	0.655000	0.94253	GAG	-	NULL		0.383	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	protein_coding	OTTHUMT00000348529.1	C	NM_178827	-		123143075	-1	no_errors	ENST00000324698	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	123143075	C	A	123143075	4	1	134	1	0	0	0	0	0	1	0	0	7822	922	32	3	1621	3	IQUB	7	123143075	Nonsense_Mutation	SNP	C	TCGA-DX-AB3C-01A-11D-A417-09		123143075	35995588	4	10157											
CNTLN	54875	genome.wustl.edu	37	chr9	17394809	17394809	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagctaatgcattgagaaAtgaaaatgaagagctgatca	10	4	1	6			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:17394809A>T	ENST00000380647.3	+	15	2441	c.2357A>T	c.(2356-2358)aAt>aTt	p.N786I	CNTLN_ENST00000262360.5_Missense_Mutation_p.N786I|CNTLN_ENST00000425824.1_Missense_Mutation_p.N786I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	786					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)			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)		GCATTGAGAAATGAAAATGAA	0.423																																																	0								ENSG00000044459						87	88	88					9																	17394809		1963	4172	6135	CNTLN	SO:0001583	missense	0			-	HGNC	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.2357A>T	9.37:g.17394809A>T	ENSP00000370021:p.Asn786Ile	Somatic	0	40	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP							superfamily_Prefoldin	p.N786I	ENST00000380647.3	37	c.2357	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596227	0.46318	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18657	2.2;2.2;2.47	5.26	4.08	0.47627	.	.	.	.	.	T	0.28234	0.0697	L	0.51422	1.61	0.25367	N	0.988735	D;P;P	0.54964	0.969;0.899;0.899	P;P;P	0.51016	0.656;0.568;0.568	T	0.08534	-1.0717	9	0.66056	D	0.02	.	8.6695	0.34140	0.8467:0.0:0.1533:0.0	.	786;786;786	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	I	786	ENSP00000370021:N786I;ENSP00000392798:N786I;ENSP00000262360:N786I	ENSP00000262360:N786I	N	+	2	0	CNTLN	17384809	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.145000	0.42207	0.891000	0.36235	0.528000	0.53228	AAT	-	NULL		0.423	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	protein_coding	OTTHUMT00000051793.3	A	NM_017738	-		17394809	1	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	SNP	0.998	T	T	17394809	A	T	17394809	3	4	134	1	0	0	0	0	1	0	0	0	3641	101	4	5	2445	5	CNTLN	9	17394809	Missense_Mutation	SNP	A	TCGA-DX-AB3C-01A-11D-A417-09		17394809	123818622	5	10158											
FRMPD1	22844	genome.wustl.edu	37	chr9	37745028	37745028	+	Frame_Shift_Del	DEL	C	C	-													tcaagacctggatgggattgCccccaaagaaccaaccatag							TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:37745028delC	ENST00000539465.1	+	16	3592	c.2999delC	c.(2998-3000)gccfs	p.A1000fs	FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.A1000fs|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1000						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATGGGATTGCCCCCAAAGAA	0.547																																																	0								ENSG00000070601						93	92	92					9																	37745028		2203	4300	6503	FRMPD1	SO:0001589	frameshift_variant	0				HGNC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2999delC	9.37:g.37745028delC	ENSP00000444411:p.Ala1000fs	Somatic	0	42	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Del	DEL							pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.E1003fs	ENST00000539465.1	37	c.2999	CCDS6612.1	9																																																																																			-	NULL		0.547	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	protein_coding	OTTHUMT00000402969.1	C	NM_014907			37745028	1	no_errors	ENST00000377765	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	37745028	C	-	37745028	7	5	134	1	0	1	0	1	0	0	0	0	6059	739	26	0	3057	0	FRMPD1	9	37745028	Frame_Shift_Del	DEL	C	TCGA-DX-AB3C-01A-11D-A417-09	20350219	37745028	103468403	6	10159											
KIF27	55582	genome.wustl.edu	37	chr9	86518547	86518547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagccgggtaattttagCatccctatatggaatatgtg	10	7	0	1			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:86518547C>T	ENST00000297814.2	-	4	1029	c.886G>A	c.(886-888)Gct>Act	p.A296T	KIF27_ENST00000413982.1_Missense_Mutation_p.A296T|KIF27_ENST00000334204.2_Missense_Mutation_p.A296T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	296	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						GTAATTTTAGCATCCCTATAT	0.448																																																	0								ENSG00000165115						69	74	72					9																	86518547		2203	4300	6503	KIF27	SO:0001583	missense	0			-	HGNC	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.886G>A	9.37:g.86518547C>T	ENSP00000297814:p.Ala296Thr	Somatic	0	35	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A296T	ENST00000297814.2	37	c.886	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118946	0.77323	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74947	-0.89;-0.89;-0.89	5.66	3.72	0.42706	Kinesin, motor domain (4);	0.101606	0.41712	N	0.000838	T	0.62221	0.2410	N	0.03608	-0.345	0.44668	D	0.997654	P;P;P	0.46859	0.513;0.885;0.815	B;P;P	0.53266	0.147;0.61;0.722	T	0.69465	-0.5138	10	0.87932	D	0	.	10.1375	0.42715	0.1368:0.7926:0.0:0.0707	.	296;296;296	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	296	ENSP00000297814:A296T;ENSP00000401688:A296T;ENSP00000333928:A296T	ENSP00000297814:A296T	A	-	1	0	KIF27	85708367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.914000	0.39966	1.387000	0.46486	0.655000	0.94253	GCT	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.448	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	C	NM_017576	-		86518547	-1	no_errors	ENST00000297814	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86518547	C	T	86518547	3	4	134	1	0	0	0	0	1	0	0	0	8298	710	25	2	3379	2	KIF27	9	86518547	Missense_Mutation	SNP	C	TCGA-DX-AB3C-01A-11D-A417-09	48773519	86518547	54694884	7	10160											
ABL1	25	genome.wustl.edu	37	chr9	133738153	133738156	+	Frame_Shift_Del	DEL	TACG	TACG	-													ttccctgtttccttcagctcTacgtctcctccgagagccgc							TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	TACG	TACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:133738153_133738156delTACG	ENST00000318560.5	+	4	934_937	c.553_556delTACG	c.(553-558)tacgtcfs	p.YV185fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	185	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.V186I(2)		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)	CCTTCAGCTCTACGTCTCCTCCGA	0.554			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	2	Substitution - Missense(2)	endometrium(2)						ENSG00000097007																																			ABL1	SO:0001589	frameshift_variant	0				HGNC	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.553_556delTACG	9.37:g.133738153_133738156delTACG	ENSP00000323315:p.Tyr185fs	Somatic	0	22	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Frame_Shift_Del	DEL							pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.Y204fs	ENST00000318560.5	37	c.610_613	CCDS35166.1	9																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2		0.554	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	protein_coding	OTTHUMT00000054684.1	TACG	NM_007313			133738156	1	no_errors	ENST00000372348	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	133738156	TACG	-	133738153	7	5	134	1	0	1	0	1	0	0	0	0	92	1522	53	0	707	0	ABL1	9	133738153	Frame_Shift_Del	DEL	TACG	TCGA-DX-AB3C-01A-11D-A417-09	47219606	133738153	7475278	8	10161											
RPP38	10557	genome.wustl.edu	37	chr10	15145497	15145497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggacttcagaagattgaaGataagaagaaaaagaacaaa	9	3	1	7			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr10:15145497G>T	ENST00000378197.4	+	3	698	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.D62Y|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	62					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GAAGATTGAAGATAAGAAGAA	0.408																																					GBM(118;1591 1611 9649 34378 50720)												0								ENSG00000152464						51	55	54					10																	15145497		2203	4300	6503	RPP38	SO:0001583	missense	0			-	HGNC	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.184G>T	10.37:g.15145497G>T	ENSP00000367439:p.Asp62Tyr	Somatic	0	33	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP							pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.D62Y	ENST00000378197.4	37	c.184	CCDS7108.1	10	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012294	0.35511	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.23552	2.9;2.9;2.9;1.9	5.75	2.42	0.29668	.	0.551000	0.19378	N	0.115726	T	0.22126	0.0533	M	0.68317	2.08	0.09310	N	1	P	0.42409	0.779	B	0.36808	0.233	T	0.19614	-1.0300	10	0.59425	D	0.04	-19.7047	5.0591	0.14548	0.2553:0.3088:0.4359:0.0	.	62	P78345	RPP38_HUMAN	Y	62	ENSP00000367445:D62Y;ENSP00000367444:D62Y;ENSP00000367439:D62Y;ENSP00000402635:D62Y	ENSP00000367439:D62Y	D	+	1	0	RPP38	15185503	0.997000	0.39634	0.507000	0.27676	0.405000	0.30901	0.871000	0.28023	0.765000	0.33221	0.650000	0.86243	GAT	-	NULL		0.408	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPP38	protein_coding	OTTHUMT00000046976.1	G	NM_006414	-		15145497	1	no_errors	ENST00000378197	ensembl	human	known	74_37	missense	SNP	0.027	T	T	15145497	G	T	15145497	3	4	134	1	0	0	0	0	1	0	0	0	13621	942	33	3	186	3	RPP38	10	15145497	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09		15145497	120389250	9	10162											
PTPRJ	5795	genome.wustl.edu	37	chr11	48142635	48142635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggaaaagtaatgacacaGctgcttctgagtacaagtat	9	7	1	2			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr11:48142635G>T	ENST00000418331.2	+	4	785	c.433G>T	c.(433-435)Gct>Tct	p.A145S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.A145S|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	145	Fibronectin type-III 1. {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)	p.A145T(2)		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						TAATGACACAGCTGCTTCTGA	0.378																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000149177						99	90	93					11																	48142635		2201	4298	6499	PTPRJ	SO:0001583	missense	0			-	HGNC	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.433G>T	11.37:g.48142635G>T	ENSP00000400010:p.Ala145Ser	Somatic	0	56	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A145S	ENST00000418331.2	37	c.433	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326923	0.60743	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000534219	T;T;T	0.56776	0.44;0.44;0.44	5.41	0.318	0.15867	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49012	0.1532	N	0.20530	0.585	0.09310	N	1	D;D	0.69078	0.983;0.997	P;D	0.66084	0.755;0.941	T	0.40421	-0.9564	9	0.25751	T	0.34	.	6.7315	0.23385	0.0971:0.0:0.782:0.1208	.	145;145	Q12913;Q6P4H4	PTPRJ_HUMAN;.	S	145;145;145;66	ENSP00000400010:A145S;ENSP00000409733:A145S;ENSP00000432686:A66S	ENSP00000278456:A145S	A	+	1	0	PTPRJ	48099211	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.194000	0.09559	-0.189000	0.10482	0.591000	0.81541	GCT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	G		-		48142635	1	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	SNP	0.001	T	T	48142635	G	T	48142635	3	4	134	1	0	0	0	0	1	0	0	0	12812	971	34	3	447	3	PTPRJ	11	48142635	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09		48142635	86863881	10	10163											
ATXN2	6311	genome.wustl.edu	37	chr12	112036781	112036785	+	Frame_Shift_Del	DEL	GTTGC	GTTGC	-													ctgctgctgctgctgctgctGttgctgctgctgctgctgct					rs76696028		TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	GTTGC	GTTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr12:112036781_112036785delGTTGC	ENST00000377617.3	-	1	695_699	c.534_538delGCAAC	c.(532-540)cagcaacagfs	p.QQQ178fs	ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000608853.1_Frame_Shift_Del_p.QQQ18fs|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_Frame_Shift_Del_p.QQQ178fs|RP11-686G8.2_ENST00000547021.1_RNA	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	178	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						tgctgctgctgttgctgctgctgct	0.732																																																	0								ENSG00000204842																																			ATXN2	SO:0001589	frameshift_variant	0				HGNC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.534_538delGCAAC	12.37:g.112036781_112036785delGTTGC	ENSP00000366843:p.Gln178fs	Somatic					0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6NLD4|Q6ZQZ7|Q99493	Frame_Shift_Del	DEL							pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q179fs	ENST00000377617.3	37	c.538_534	CCDS31902.1	12																																																																																			-	NULL		0.732	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	protein_coding	OTTHUMT00000257351.3	GTTGC	NM_002973			112036785	-1	no_errors	ENST00000377617	ensembl	human	known	74_37	frame_shift_del	DEL	0.009:0.008:0.017:0.025:0.032	-	-	112036785	GTTGC	-	112036781	7	5	134	1	0	1	0	1	0	0	0	0	1211	1386	48	0	3503	0	ATXN2	12	112036781	Frame_Shift_Del	DEL	GTTGC	TCGA-DX-AB3C-01A-11D-A417-09		112036781	21815114	11	10164											
NCOR2	9612	genome.wustl.edu	37	chr12	124827641	124827641	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtccacgccactcacgccccGaagcaggtgctcatagggcg	12	16	2	0			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr12:124827641G>T	ENST00000405201.1	-	33	4846	c.4846C>A	c.(4846-4848)Cgg>Agg	p.R1616R	NCOR2_ENST00000397355.1_Silent_p.R1607R|NCOR2_ENST00000404621.1_Silent_p.R1606R|NCOR2_ENST00000429285.2_Silent_p.R1606R|NCOR2_ENST00000356219.3_Silent_p.R1623R|NCOR2_ENST00000404121.2_Silent_p.R1177R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1624					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCACGCCCCGAAGCAGGTGC	0.667																																																	0								ENSG00000196498						39	48	45					12																	124827641		2155	4248	6403	NCOR2	SO:0001819	synonymous_variant	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4846C>A	12.37:g.124827641G>T		Somatic	0	42	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1623	ENST00000405201.1	37	c.4867	CCDS41858.2	12																																																																																			-	NULL		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	G	NM_006312	-		124827641	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	SNP	0.981	T	T	124827641	G	T	124827641	2	4	134	1	0	0	0	0	0	0	0	1	10238	1057	37	3		3	NCOR2	12	124827641	Silent	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09	12790860	124827641	9024254	12	10165											
DZIP1	22873	genome.wustl.edu	37	chr13	96282277	96282277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactggcatggtgtgcaGcctctagctcagacctggtg	13	12	2	1			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr13:96282277G>T	ENST00000376829.2	-	7	1627	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DZIP1_ENST00000361396.2_Missense_Mutation_p.A259D|DZIP1_ENST00000361156.3_Missense_Mutation_p.A259D|DZIP1_ENST00000347108.3_Missense_Mutation_p.A259D	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	259					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGGTGTGCAGCCTCTAGCTC	0.443																																																	0								ENSG00000134874						103	81	89					13																	96282277		2203	4300	6503	DZIP1	SO:0001583	missense	0			-	HGNC	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.776C>A	13.37:g.96282277G>T	ENSP00000366025:p.Ala259Asp	Somatic	0	40	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A259D	ENST00000376829.2	37	c.776	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517651	0.44763	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.24	5.24	0.73138	.	0.312633	0.34802	N	0.003670	T	0.63674	0.2531	L	0.58428	1.81	0.28025	N	0.93436	P;D;D	0.58268	0.818;0.982;0.969	B;P;P	0.53722	0.314;0.733;0.546	T	0.60969	-0.7157	10	0.40728	T	0.16	-3.6831	12.4154	0.55490	0.0801:0.0:0.9199:0.0	.	259;259;259	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	259	ENSP00000257312:A259D;ENSP00000355018:A259D;ENSP00000355175:A259D;ENSP00000366025:A259D	ENSP00000257312:A259D	A	-	2	0	DZIP1	95080278	0.995000	0.38212	0.804000	0.32291	0.038000	0.13279	4.056000	0.57448	2.461000	0.83175	0.561000	0.74099	GCT	-	NULL		0.443	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	protein_coding	OTTHUMT00000045496.3	G	NM_014934	-		96282277	-1	no_errors	ENST00000347108	ensembl	human	known	74_37	missense	SNP	0.822	T	T	96282277	G	T	96282277	3	4	134	1	0	0	0	0	1	0	0	0	4865	971	34	3	1895	3	DZIP1	13	96282277	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09		96282277	18887601	13	10166											
RHBDF1	64285	genome.wustl.edu	37	chr16	110229	110229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccggccacttggtgatGtcttctggccactcatgagg	11	13	4	2			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr16:110229G>T	ENST00000262316.6	-	13	1849	c.1707C>A	c.(1705-1707)gaC>gaA	p.D569E		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	569					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACTTGGTGATGTCTTCTGGCC	0.597																																																	0								ENSG00000007384						82	79	80					16																	110229		2203	4300	6503	RHBDF1	SO:0001583	missense	0			-	HGNC	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1707C>A	16.37:g.110229G>T	ENSP00000262316:p.Asp569Glu	Somatic	0	40	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP							pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.D569E	ENST00000262316.6	37	c.1707	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	.	18.04	3.534705	0.64972	.	.	ENSG00000007384	ENST00000262316	T	0.60797	0.16	5.16	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.78344	2.41	0.80722	D	1	D	0.60160	0.987	P	0.60682	0.878	T	0.71550	-0.4559	10	0.87932	D	0	-35.7053	11.6631	0.51358	0.2244:0.0:0.7756:0.0	.	569	Q96CC6	RHDF1_HUMAN	E	569	ENSP00000262316:D569E	ENSP00000262316:D569E	D	-	3	2	RHBDF1	50229	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.676000	0.61627	-0.034000	0.13713	-0.797000	0.03246	GAC	-	NULL		0.597	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	protein_coding	OTTHUMT00000134178.2	G	NM_022450	-		110229	-1	no_errors	ENST00000262316	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110229	G	T	110229	3	4	134	1	0	0	0	0	1	0	0	0	13327	1368	48	3	884	3	RHBDF1	16	110229	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09		110229	90244524	14	10167											
DLG4	1742	genome.wustl.edu	37	chr17	7096278	7096278	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctacctgctctgccacctCtcgcacggactggacgctgg	10	17	2	0			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr17:7096278C>T	ENST00000399506.2	-	17	2043	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	DLG4_ENST00000399510.2_Missense_Mutation_p.E661K|DLG4_ENST00000302955.6_Missense_Mutation_p.E615K			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	618	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TCTGCCACCTCTCGCACGGAC	0.607																																																	0								ENSG00000132535						40	42	41					17																	7096278		2019	4165	6184	DLG4	SO:0001583	missense	0			-	HGNC	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1852G>A	17.37:g.7096278C>T	ENSP00000382425:p.Glu618Lys	Somatic	0	34	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP							pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E661K	ENST00000399506.2	37	c.1981		17	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648838	0.67358	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.42900	0.96;0.96;0.96	4.2	4.2	0.49525	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.50154	0.1599	L	0.56769	1.78	0.48632	D	0.999681	P;P;P;B	0.41784	0.762;0.587;0.74;0.086	P;P;P;B	0.50825	0.651;0.572;0.495;0.108	T	0.42464	-0.9450	9	0.27785	T	0.31	.	14.0757	0.64889	0.0:1.0:0.0:0.0	.	658;618;615;661	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	K	618;615;661;661;558;661	ENSP00000382425:E618K;ENSP00000307471:E615K;ENSP00000382428:E661K	ENSP00000293813:E661K	E	-	1	0	DLG4	7037002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.637000	0.83313	2.181000	0.69327	0.643000	0.83706	GAG	-	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like		0.607	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	protein_coding	OTTHUMT00000259419.2	C	NM_001365	-		7096278	-1	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7096278	C	T	7096278	3	4	134	1	0	0	0	0	1	0	0	0	4559	922	32	2	338	2	DLG4	17	7096278	Missense_Mutation	SNP	C	TCGA-DX-AB3C-01A-11D-A417-09		7096278	74098932	15	10168											
MYO15A	51168	genome.wustl.edu	37	chr17	18045519	18045519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcgattccgctctctgCgccacaagatcatcctgctg	10	15	2	1	rs539637895	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr17:18045519C>T	ENST00000205890.5	+	24	6114	c.5776C>T	c.(5776-5778)Cgc>Tgc	p.R1926C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1926	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCTCTCTGCGCCACAAGAT	0.597													C|||	3	0.000599042	0.0015	0	5008	,	,		19752	0		0	False		,,,				2504	0.001																0								ENSG00000091536						38	41	40					17																	18045519		2165	4278	6443	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5776C>T	17.37:g.18045519C>T	ENSP00000205890:p.Arg1926Cys	Somatic	0	53	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B4DFC7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R1926C	ENST00000205890.5	37	c.5776	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768705	0.69878	.	.	ENSG00000091536	ENST00000205890	D	0.95821	-3.82	5.69	5.69	0.88448	.	.	.	.	.	D	0.98160	0.9392	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98855	1.0760	9	0.87932	D	0	.	14.6164	0.68552	0.1458:0.8542:0.0:0.0	.	1926	Q9UKN7	MYO15_HUMAN	C	1926	ENSP00000205890:R1926C	ENSP00000205890:R1926C	R	+	1	0	MYO15A	17986244	0.996000	0.38824	0.968000	0.41197	0.905000	0.53344	2.303000	0.43646	2.690000	0.91761	0.655000	0.94253	CGC	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	C	NM_016239	-		18045519	1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18045519	C	T	18045519	3	4	134	1	0	0	0	0	1	0	0	0	10065	768	27	1	5862	1	MYO15A	17	18045519	Missense_Mutation	SNP	C	TCGA-DX-AB3C-01A-11D-A417-09	10949241	18045519	63149691	16	10169											
C18orf19	125228	genome.wustl.edu	37	chr18	13682040	13682040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagcatgtcctgcgtgCcagtcgagatacagtccgtg	11	12	0	1			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr18:13682040C>T	ENST00000322247.3	-	3	424	c.37G>A	c.(37-39)Gca>Aca	p.A13T	FAM210A_ENST00000402563.1_Missense_Mutation_p.A13T|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	13						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GTCCTGCGTGCCAGTCGAGAT	0.388																																																	0								ENSG00000177150						138	122	127					18																	13682040		2203	4300	6503	FAM210A	SO:0001583	missense	0			-	HGNC	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.37G>A	18.37:g.13682040C>T	ENSP00000323635:p.Ala13Thr	Somatic	0	29	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	D3DUJ4	Missense_Mutation	SNP							pfam_DUF1279	p.A13T	ENST00000322247.3	37	c.37	CCDS11866.1	18	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695013	0.30052	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.51574	0.7;0.7	5.48	2.66	0.31614	.	0.222627	0.45867	N	0.000334	T	0.43500	0.1250	M	0.65975	2.015	0.30361	N	0.783826	B	0.16603	0.018	B	0.12156	0.007	T	0.45629	-0.9248	10	0.59425	D	0.04	-4.2081	8.5873	0.33666	0.0:0.7563:0.0:0.2437	.	13	Q96ND0	CR019_HUMAN	T	13	ENSP00000323635:A13T;ENSP00000386115:A13T	ENSP00000323635:A13T	A	-	1	0	C18orf19	13672040	1.000000	0.71417	0.712000	0.30502	0.070000	0.16714	0.793000	0.26944	0.257000	0.21650	0.655000	0.94253	GCA	-	NULL		0.388	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM210A	protein_coding	OTTHUMT00000254637.1	C	NM_152352	-		13682040	-1	no_errors	ENST00000322247	ensembl	human	known	74_37	missense	SNP	0.994	T	T	13682040	C	T	13682040	3	4	134	1	0	0	0	0	1	0	0	0	1898	739	26	2	793	2	C18orf19	18	13682040	Missense_Mutation	SNP	C	TCGA-DX-AB3C-01A-11D-A417-09		13682040	64395208	17	10170											
C18orf34	374864	genome.wustl.edu	37	chr18	30554563	30554563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtctgtctggaagttgGccagcctcatctggctgaag	14	9	4	2			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr18:30554563G>A	ENST00000383096.3	-	22	2653	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	CCDC178_ENST00000579916.1_Missense_Mutation_p.A144V|CCDC178_ENST00000581852.1_Missense_Mutation_p.A29V|CCDC178_ENST00000403303.1_Missense_Mutation_p.A824V|CCDC178_ENST00000402325.1_Missense_Mutation_p.A774V|CCDC178_ENST00000583930.1_Missense_Mutation_p.A848V|CCDC178_ENST00000300227.8_Missense_Mutation_p.A786V|CCDC178_ENST00000579947.1_Missense_Mutation_p.A824V|CCDC178_ENST00000406524.2_Missense_Mutation_p.A848V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	824																	CTGGAAGTTGGCCAGCCTCAT	0.488																																																	0								ENSG00000166960						69	64	65					18																	30554563		2203	4300	6503	CCDC178	SO:0001583	missense	0			-	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2471C>T	18.37:g.30554563G>A	ENSP00000372576:p.Ala824Val	Somatic	0	25	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP							NULL	p.A848V	ENST00000383096.3	37	c.2543	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330827	0.24167	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.21543	2.16;2.16;2.19;2.0;2.08	5.73	3.73	0.42828	.	.	.	.	.	T	0.38983	0.1061	L	0.43152	1.355	0.33599	D	0.602148	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.74674	0.974;0.975;0.984;0.974;0.974;0.974	T	0.55554	-0.8123	9	0.66056	D	0.02	-1.1258	16.3019	0.82825	0.0:0.0:0.7475:0.2524	.	848;824;774;824;786;824	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	V	824;824;786;848;774	ENSP00000385591:A824V;ENSP00000372576:A824V;ENSP00000300227:A786V;ENSP00000385867:A848V;ENSP00000385234:A774V	ENSP00000300227:A786V	A	-	2	0	C18orf34	28808561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.676000	0.61627	1.401000	0.46761	0.563000	0.77884	GCC	-	NULL		0.488	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	G	NM_198995	-		30554563	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.977	A	A	30554563	G	A	30554563	3	1	134	1	0	0	0	0	1	0	0	0	1904	1203	42	2	140	2	C18orf34	18	30554563	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09	16872523	30554563	47522685	18	10171											
EEF2	1938	genome.wustl.edu	37	chr19	3980914	3980914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccgtcacaggggaggGcaggtggatggtgatcatct	18	8	3	1			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr19:3980914G>A	ENST00000309311.6	-	8	1163	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	359	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGGGAGGGCAGGTGGATG	0.697																																					Colon(165;1804 1908 4071 6587 18799)												0								ENSG00000167658						18	15	16					19																	3980914		2188	4281	6469	EEF2	SO:0001583	missense	0			-	HGNC	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1075C>T	19.37:g.3980914G>A	ENSP00000307940:p.Pro359Ser	Somatic	0	41	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.P359S	ENST00000309311.6	37	c.1075	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.321263	0.95682	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.88354	-2.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97067	0.9775	10	0.87932	D	0	-44.7602	18.7268	0.91717	0.0:0.0:1.0:0.0	.	359	P13639	EF2_HUMAN	S	359	ENSP00000307940:P359S	ENSP00000307940:P359S	P	-	1	0	EEF2	3931914	1.000000	0.71417	0.983000	0.44433	0.907000	0.53573	9.808000	0.99193	2.674000	0.91012	0.561000	0.74099	CCC	-	superfamily_P-loop_NTPase		0.697	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	protein_coding	OTTHUMT00000457615.2	G	NM_001961	-		3980914	-1	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3980914	G	A	3980914	3	1	134	1	0	0	0	0	1	0	0	0	4931	1203	42	2	1533	2	EEF2	19	3980914	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09		3980914	55148069	19	10172											
AXL	558	genome.wustl.edu	37	chr19	41754471	41754471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctgcgggatgtgatGgtggaccggcacaaggtggc	19	7	0	2			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr19:41754471G>T	ENST00000301178.4	+	13	1780	c.1590G>T	c.(1588-1590)atG>atT	p.M530I	AXL_ENST00000593513.1_Missense_Mutation_p.M262I|AXL_ENST00000359092.3_Missense_Mutation_p.M521I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	530					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGGATGTGATGGTGGACCGGC	0.577																																																	0								ENSG00000167601						122	116	118					19																	41754471		2203	4300	6503	AXL	SO:0001583	missense	0			-	HGNC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1590G>T	19.37:g.41754471G>T	ENSP00000301178:p.Met530Ile	Somatic	0	33	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q8N5L2|Q9UD27	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M530I	ENST00000301178.4	37	c.1590	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913258	0.92178	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.61274	0.12;0.12	4.76	4.76	0.60689	Protein kinase-like domain (1);	0.092869	0.64402	D	0.000001	T	0.71264	0.3319	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.79784	0.993;0.985	T	0.70241	-0.4926	10	0.38643	T	0.18	-36.6863	16.9023	0.86117	0.0:0.0:1.0:0.0	.	521;530	P30530-2;P30530	.;UFO_HUMAN	I	530;521	ENSP00000301178:M530I;ENSP00000351995:M521I	ENSP00000301178:M530I	M	+	3	0	AXL	46446311	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.929000	0.63455	2.354000	0.79902	0.561000	0.74099	ATG	-	superfamily_Kinase-like_dom		0.577	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	G		-		41754471	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41754471	G	T	41754471	3	4	134	1	0	0	0	0	1	0	0	0	1238	1348	47	3	1640	3	AXL	19	41754471	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09	37773557	41754471	17374512	20	10173											
SF3A1	10291	genome.wustl.edu	37	chr22	30736341	30736341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggacacaagatactcatctgGagcaggggctggaggcaagg	16	8	2	1			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr22:30736341G>T	ENST00000215793.8	-	9	1373	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T	SF3A1_ENST00000439242.1_Missense_Mutation_p.P342T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	407					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TACTCATCTGGAGCAGGGGCT	0.527																																																	0								ENSG00000099995						66	67	67					22																	30736341		2203	4300	6503	SF3A1	SO:0001583	missense	0			-	HGNC	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1219C>A	22.37:g.30736341G>T	ENSP00000215793:p.Pro407Thr	Somatic	0	33	0		0.586094241960261				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	E9PAW1	Missense_Mutation	SNP							pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.P407T	ENST00000215793.8	37	c.1219	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229959	0.39399	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.31510	1.49;1.51	6.07	6.07	0.98685	.	0.050006	0.85682	D	0.000000	T	0.20700	0.0498	N	0.13299	0.325	0.58432	D	0.999999	B	0.26708	0.157	B	0.28638	0.092	T	0.09058	-1.0692	10	0.15499	T	0.54	-12.6683	16.8423	0.85972	0.0:0.1281:0.8718:0.0	.	407	Q15459	SF3A1_HUMAN	T	342;407;304;103	ENSP00000390336:P342T;ENSP00000215793:P407T	ENSP00000215793:P407T	P	-	1	0	SF3A1	29066341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.337000	0.65941	2.884000	0.98904	0.655000	0.94253	CCA	-	pfam_PRP21-like		0.527	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	protein_coding	OTTHUMT00000320916.2	G	NM_005877	-		30736341	-1	no_errors	ENST00000215793	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30736341	G	T	30736341	3	4	134	1	0	0	0	0	1	0	0	0	14154	1174	41	3	1194	3	SF3A1	22	30736341	Missense_Mutation	SNP	G	TCGA-DX-AB3C-01A-11D-A417-09		30736341	20568225	21	10174											
PRDM2	7799	genome.wustl.edu	37	chr1	14107394	14107394	+	Missense_Mutation	SNP	C	C	T													cccctctccctctcccattcCtcccgtggagcccctgatgt							TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:14107394C>T	ENST00000235372.7	+	8	3960	c.3104C>T	c.(3103-3105)cCt>cTt	p.P1035L	PRDM2_ENST00000343137.4_Missense_Mutation_p.P834L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1035L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P834L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1035	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCTCCCATTCCTCCCGTGGAG	0.572																																																	0								ENSG00000116731						95	82	86					1																	14107394		2203	4300	6503	PRDM2	SO:0001583	missense	0			-	HGNC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3104C>T	1.37:g.14107394C>T	ENSP00000235372:p.Pro1035Leu	Somatic	0	54	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.40	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	23	0	0	54	23.94	17	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.P1035L	ENST00000235372.7	37	c.3104	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432084	0.25813	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01871	4.7;4.59;4.61;4.61	5.84	5.84	0.93424	.	0.053753	0.85682	D	0.000000	T	0.09818	0.0241	M	0.67953	2.075	0.80722	D	1	D;D;D	0.63046	0.964;0.987;0.992	P;P;P	0.60541	0.637;0.755;0.876	T	0.32561	-0.9902	10	0.21540	T	0.41	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	893;1035;1035	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	L	1035;1035;1035;834;834	ENSP00000235372:P1035L;ENSP00000312352:P1035L;ENSP00000411103:P834L;ENSP00000341621:P834L	ENSP00000235372:P1035L	P	+	2	0	PRDM2	13979981	1.000000	0.71417	0.733000	0.30861	0.236000	0.25371	3.777000	0.55364	2.769000	0.95229	0.563000	0.77884	CCT	-	pirsf_RIZ_retinblastoma-bd_prot		0.572	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	protein_coding	OTTHUMT00000021792.2	C	NM_012231	-		14107394	1	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	SNP	0.877	T	T	14107394	C	T	14107394	3	4	135	1	0	0	0	0	1	0	0	0	12463	681	24	2	3130	2	PRDM2	1	14107394	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09		14107394	235143227	1	10175	168	2									
PRDM2	7799	genome.wustl.edu	37	chr1	14107396	14107396	+	Missense_Mutation	SNP	C	C	T													cctctccctctcccattcctCccgtggagcccctgatgtct							TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:14107396C>T	ENST00000235372.7	+	8	3962	c.3106C>T	c.(3106-3108)Ccc>Tcc	p.P1036S	PRDM2_ENST00000343137.4_Missense_Mutation_p.P835S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1036S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P835S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1036	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCCATTCCTCCCGTGGAGCC	0.567																																																	0								ENSG00000116731						93	80	85					1																	14107396		2203	4300	6503	PRDM2	SO:0001583	missense	0			-	HGNC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3106C>T	1.37:g.14107396C>T	ENSP00000235372:p.Pro1036Ser	Somatic	0	50	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	23	0	0	58	22.67	17	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.P1036S	ENST00000235372.7	37	c.3106	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886958	0.00527	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01613	4.84;4.73;4.75;4.75	5.97	1.44	0.22558	.	0.243951	0.43260	N	0.000582	T	0.00552	0.0018	N	0.01168	-0.975	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.44559	-0.9320	10	0.05721	T	0.95	.	1.3445	0.02161	0.171:0.3785:0.174:0.2765	.	894;1036;1036	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	S	1036;1036;1036;835;835	ENSP00000235372:P1036S;ENSP00000312352:P1036S;ENSP00000411103:P835S;ENSP00000341621:P835S	ENSP00000235372:P1036S	P	+	1	0	PRDM2	13979983	1.000000	0.71417	0.099000	0.21106	0.144000	0.21451	1.273000	0.33121	0.023000	0.15187	0.655000	0.94253	CCC	-	pirsf_RIZ_retinblastoma-bd_prot		0.567	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	protein_coding	OTTHUMT00000021792.2	C	NM_012231	-		14107396	1	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	SNP	0.283	T	T	14107396	C	T	14107396	3	4	135	1	0	0	0	0	1	0	0	0	12463	855	30	2	3132	2	PRDM2	1	14107396	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	2	14107396	235143225	2	10176	168	2									
GBP5	115362	genome.wustl.edu	37	chr1	89732799	89732799	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcaaggtcgggtgagtTtcttgccttgagcagatctg	13	9	3	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:89732799T>A	ENST00000370459.3	-	5	593	c.466A>T	c.(466-468)Aac>Tac	p.N156Y	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.N156Y			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	156	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCGGGTGAGTTTCTTGCCTTG	0.453																																																	0								ENSG00000154451						120	108	112					1																	89732799		2203	4300	6503	GBP5	SO:0001583	missense	0			-	HGNC	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.466A>T	1.37:g.89732799T>A	ENSP00000359488:p.Asn156Tyr	Somatic	0	39	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2RCE1|Q86TM5	Missense_Mutation	SNP	36	0	0	29	30.95	13	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.N156Y	ENST00000370459.3	37	c.466	CCDS722.1	1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720680	0.68959	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.61859	0.07;0.07;0.07	4.61	0.822	0.18806	Guanylate-binding protein, N-terminal (1);	1.275210	0.05416	N	0.543390	T	0.34716	0.0907	L	0.39898	1.24	0.09310	N	1	P	0.42556	0.783	P	0.46419	0.516	T	0.33675	-0.9859	10	0.87932	D	0	0.1823	4.209	0.10502	0.2663:0.2333:0.0:0.5004	.	156	Q96PP8	GBP5_HUMAN	Y	156	ENSP00000340396:N156Y;ENSP00000359488:N156Y;ENSP00000403010:N156Y	ENSP00000340396:N156Y	N	-	1	0	GBP5	89505387	0.000000	0.05858	0.000000	0.03702	0.635000	0.38103	-0.039000	0.12124	0.047000	0.15862	0.369000	0.22263	AAC	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.453	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	protein_coding	OTTHUMT00000027700.1	T	NM_052942	-		89732799	-1	no_errors	ENST00000343435	ensembl	human	known	74_37	missense	SNP	0.000	A	A	89732799	T	A	89732799	3	1	135	1	0	0	0	0	1	0	0	0	6279	1841	64	5	1322	5	GBP5	1	89732799	Missense_Mutation	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09	75625403	89732799	159517822	3	10177											
S1PR1	1901	genome.wustl.edu	37	chr1	101704603	101704603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtctctgactacgtcaaCtatgatatcatcgtccggca	8	12	3	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:101704603C>T	ENST00000305352.6	+	2	438	c.63C>T	c.(61-63)aaC>aaT	p.N21N	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	21					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACTACGTCAACTATGATATCA	0.577											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000170989						64	62	62					1																	101704603		2203	4300	6503	S1PR1	SO:0001819	synonymous_variant	0			-	HGNC	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.63C>T	1.37:g.101704603C>T		Somatic	0	39	0	1360					WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	27	0	0	38	20.83	10	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.N21	ENST00000305352.6	37	c.63	CCDS777.1	1																																																																																			-	prints_S1P_rcpt		0.577	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	protein_coding	OTTHUMT00000029908.1	C	NM_001400	-		101704603	1	no_errors	ENST00000305352	ensembl	human	known	74_37	silent	SNP	1.000	T	T	101704603	C	T	101704603	2	4	135	1	0	0	0	0	0	0	0	1	13801	564	20	2		2	S1PR1	1	101704603	Silent	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	11971804	101704603	147546018	4	10178											
NBPF10	100132406	genome.wustl.edu	37	chr1	145366987	145366987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacagtaccttggcttggctCttgacgtggacagtgagtac	12	9	1	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:145366987C>G	ENST00000342960.5	+	82	10332	c.10297C>G	c.(10297-10299)Ctt>Gtt	p.L3433V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	747						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCTTGGCTCTTGACGTGGA	0.493																																																	0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10297C>G	1.37:g.145366987C>G	ENSP00000345684:p.Leu3433Val	Somatic	0	29	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	33	0	0	162	26.70	59	pfam_NBPF_dom	p.L3433V	ENST00000342960.5	37	c.10297	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	1.387	-0.581928	0.03827	.	.	ENSG00000163386	ENST00000342960	T	0.13307	2.6	1.43	-1.69	0.08186	.	.	.	.	.	T	0.04679	0.0127	L	0.52126	1.63	0.09310	N	1	.	.	.	.	.	.	T	0.41305	-0.9516	7	0.42905	T	0.14	.	1.7902	0.03049	0.3214:0.4347:0.0:0.2438	.	.	.	.	V	3433	ENSP00000345684:L3433V	ENSP00000345684:L3433V	L	+	1	0	NBPF10	144078344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.353000	0.07691	-0.040000	0.13580	-0.561000	0.04177	CTT	-	pfam_NBPF_dom		0.493	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	protein_coding		C	NM_001039703	-		145366987	1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.000	G	G	145366987	C	G	145366987	3	3	135	1	0	0	0	0	1	0	0	0	10195	913	32	4	10623	4	NBPF10	1	145366987	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	43662384	145366987	103883634	5	10179											
IL6R	3570	genome.wustl.edu	37	chr1	154401712	154401712	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accagtctgccaggagacagCgtgactctgacctgcccggg	13	14	2	3	rs34099703	byFrequency	TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:154401712C>G	ENST00000368485.3	+	2	563	c.126C>G	c.(124-126)agC>agG	p.S42R	IL6R_ENST00000344086.4_Missense_Mutation_p.S42R	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	42	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CAGGAGACAGCGTGACTCTGA	0.632																																																	0								ENSG00000160712						81	79	80					1																	154401712		2203	4300	6503	IL6R	SO:0001583	missense	0			-	HGNC	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.126C>G	1.37:g.154401712C>G	ENSP00000357470:p.Ser42Arg	Somatic	0	59	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	100	12.28	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	32	0	0	93	13.89	15	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S42R	ENST00000368485.3	37	c.126	CCDS1067.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611081	0.28712	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.15718	2.4;2.66;2.66	4.85	-7.11	0.01542	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.196460	0.05465	N	0.552057	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	D;P	0.58620	0.983;0.949	P;B	0.46917	0.531;0.331	T	0.04165	-1.0972	10	0.30078	T	0.28	-4.3456	14.8624	0.70392	0.0:0.2435:0.0:0.7565	.	42;42	P08887-2;P08887	.;IL6RA_HUMAN	R	42	ENSP00000357470:S42R;ENSP00000340589:S42R;ENSP00000423184:S42R	ENSP00000340589:S42R	S	+	3	2	IL6R	152668336	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.470000	0.00229	-2.154000	0.00792	-1.036000	0.02392	AGC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.632	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	protein_coding	OTTHUMT00000087911.1	C	NM_000565	-		154401712	1	no_errors	ENST00000368485	ensembl	human	known	74_37	missense	SNP	0.000	G	G	154401712	C	G	154401712	3	3	135	1	0	0	0	0	1	0	0	0	7704	767	27	4	132	4	IL6R	1	154401712	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	9034725	154401712	94848909	6	10180											
CEP350	9857	genome.wustl.edu	37	chr1	179961245	179961245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	taatgctccaatctccaaatCcactaaatcacgaaaagaga	4	11	2	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:179961245C>G	ENST00000367607.3	+	5	702	c.284C>G	c.(283-285)tCc>tGc	p.S95C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	95					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATCTCCAAATCCACTAAATCA	0.398																																																	0								ENSG00000135837						49	48	48					1																	179961245		2203	4295	6498	CEP350	SO:0001583	missense	0			-	HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.284C>G	1.37:g.179961245C>G	ENSP00000356579:p.Ser95Cys	Somatic	0	48	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	119	10.53	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	42	0	0	187	7.88	16	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S95C	ENST00000367607.3	37	c.284	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544069	0.27563	.	.	ENSG00000135837	ENST00000367607;ENST00000491495;ENST00000357434	T	0.59083	0.29	4.68	0.64	0.17752	.	0.937624	0.08743	N	0.900222	T	0.46541	0.1398	N	0.19112	0.55	0.23681	N	0.997124	P;B;D	0.53619	0.947;0.022;0.961	B;B;P	0.50378	0.319;0.007;0.639	T	0.33879	-0.9851	9	.	.	.	.	5.4714	0.16672	0.1384:0.5516:0.0:0.31	.	95;95;69	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	C	95;69;94	ENSP00000356579:S95C	.	S	+	2	0	CEP350	178227868	0.970000	0.33590	0.969000	0.41365	0.831000	0.47069	1.103000	0.31062	0.275000	0.22094	-0.196000	0.12772	TCC	-	NULL		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	C	NM_014810	-		179961245	1	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	SNP	0.824	G	G	179961245	C	G	179961245	3	3	135	1	0	0	0	0	1	0	0	0	3256	855	30	4	298	4	CEP350	1	179961245	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	25559533	179961245	69289376	7	10181											
NID1	4811	genome.wustl.edu	37	chr1	236142371	236142371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggaaagcatccgtctcCttggaaattgcaagatcgag	12	8	1	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr1:236142371C>T	ENST00000264187.6	-	19	3628	c.3546G>A	c.(3544-3546)aaG>aaA	p.K1182K	NID1_ENST00000366595.3_Silent_p.K1049K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1182					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CATCCGTCTCCTTGGAAATTG	0.498																																																	0								ENSG00000116962						129	116	121					1																	236142371		2203	4300	6503	NID1	SO:0001819	synonymous_variant	0			-	HGNC	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3546G>A	1.37:g.236142371C>T		Somatic	0	37	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	80	99	44.69	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	23	0	0	127	37.44	76	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.K1182	ENST00000264187.6	37	c.3546	CCDS1608.1	1																																																																																			-	NULL		0.498	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	protein_coding	OTTHUMT00000096647.2	C	NM_002508	-		236142371	-1	no_errors	ENST00000264187	ensembl	human	known	74_37	silent	SNP	0.813	T	T	236142371	C	T	236142371	2	4	135	1	0	0	0	0	0	0	0	1	10416	680	24	2		2	NID1	1	236142371	Silent	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	56181126	236142371	13108250	8	10182											
DNAH6	1768	genome.wustl.edu	37	chr2	84861702	84861702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaatttaatcgaattgaCatagaagttctgtccgtcat	8	6	2	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:84861702C>T	ENST00000237449.6	+	29	4598	c.4590C>T	c.(4588-4590)gaC>gaT	p.D1530D	DNAH6_ENST00000389394.3_Silent_p.D1530D|DNAH6_ENST00000398278.2_Silent_p.D1530D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1530	AAA 1. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCGAATTGACATAGAAGTTC	0.473																																																	0								ENSG00000115423						97	82	86					2																	84861702		692	1591	2283	DNAH6	SO:0001819	synonymous_variant	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4590C>T	2.37:g.84861702C>T		Somatic	0	63	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	32	0	0	51	22.73	15	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D1530	ENST00000237449.6	37	c.4590	CCDS46348.1	2																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.473	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	C	NM_001370	-		84861702	1	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	SNP	0.974	T	T	84861702	C	T	84861702	2	4	135	1	0	0	0	0	0	0	0	1	4607	477	17	2		2	DNAH6	2	84861702	Silent	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09		84861702	158337671	9	10183											
MYO7B	4648	genome.wustl.edu	37	chr2	128350513	128350513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgctgcccaacgccatgCggatgcaggtcagcgcccct	12	15	1	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:128350513C>T	ENST00000409816.2	+	16	2169	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R713W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R713W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	713	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAACGCCATGCGGATGCAGGT	0.672																																																	0								ENSG00000169994						28	34	32					2																	128350513		2070	4181	6251	MYO7B	SO:0001583	missense	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2137C>T	2.37:g.128350513C>T	ENSP00000386461:p.Arg713Trp	Somatic	0	55	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	Q14786|Q8TEE1	Missense_Mutation	SNP	34	0	0	29	43.14	22	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R713W	ENST00000409816.2	37	c.2137	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064250	0.55432	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.71934	-0.61;-0.61;-0.61	4.4	-0.0933	0.13650	Myosin head, motor domain (2);	0.545338	0.17415	N	0.175060	T	0.66137	0.2759	N	0.17594	0.5	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.57636	-0.7777	10	0.72032	D	0.01	.	6.7589	0.23530	0.5194:0.3937:0.0:0.0869	.	713	Q6PIF6	MYO7B_HUMAN	W	713	ENSP00000374175:R713W;ENSP00000415090:R713W;ENSP00000386461:R713W	ENSP00000374175:R713W	R	+	1	2	MYO7B	128066983	0.017000	0.18338	0.001000	0.08648	0.019000	0.09904	0.332000	0.19751	-0.141000	0.11374	0.655000	0.94253	CGG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	C	XM_291001	-		128350513	1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	SNP	0.005	T	T	128350513	C	T	128350513	3	4	135	1	0	0	0	0	1	0	0	0	10085	759	27	1	2199	1	MYO7B	2	128350513	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	43488811	128350513	114848860	10	10184											
ACVR1	90	genome.wustl.edu	37	chr2	158655938	158655938	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagatgtgagtcacttaCcttccatactaggggagggg	12	7	1	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:158655938C>T	ENST00000263640.3	-	3	497		c.e3+1		ACVR1_ENST00000409283.2_Splice_Site|ACVR1_ENST00000434821.1_Splice_Site|ACVR1_ENST00000410057.2_Splice_Site	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I						activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GAGTCACTTACCTTCCATACT	0.358																																																	0								ENSG00000115170						128	111	117					2																	158655938		2203	4300	6503	ACVR1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.67+1G>A	2.37:g.158655938C>T		Somatic	0	39	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Splice_Site	SNP	44	0	0	52	0.00	0	-	e1+1	ENST00000263640.3	37	c.67+1	CCDS2206.1	2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053199	0.75960	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057;ENST00000412025;ENST00000440523;ENST00000539637;ENST00000424669	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.649	0.88157	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACVR1	158364184	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.676000	0.61627	2.760000	0.94817	0.655000	0.94253	.	-	-		0.358	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	protein_coding	OTTHUMT00000254927.1	C	NM_001105	-	Intron	158655938	-1	no_errors	ENST00000263640	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	158655938	C	T	158655938	5	4	135	1	0	0	0	0	0	0	1	0	220	521	18	2	1497	2	ACVR1	2	158655938	Splice_Site	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	30305425	158655938	84543435	11	10185											
OSBPL6	114880	genome.wustl.edu	37	chr2	179188982	179188982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgctagaaccggagccaGtccccctctccaaggtcagt	9	14	2	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:179188982G>A	ENST00000190611.4	+	4	557	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	OSBPL6_ENST00000315022.2_Missense_Mutation_p.V40I|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V61I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V61I|OSBPL6_ENST00000357080.4_Missense_Mutation_p.V61I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V61I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V61I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	61					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ACCGGAGCCAGTCCCCCTCTC	0.488																																																	0								ENSG00000079156						71	60	64					2																	179188982		2203	4295	6498	OSBPL6	SO:0001583	missense	0			-	HGNC	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.181G>A	2.37:g.179188982G>A	ENSP00000190611:p.Val61Ile	Somatic	0	29	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	18	0	0	41	26.79	15	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V40I	ENST00000190611.4	37	c.118	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	G	4.556	0.103310	0.08731	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.11821	2.78;2.74;2.75;2.77;2.76;2.74;2.77	5.96	3.2	0.36748	.	0.546828	0.21365	N	0.075728	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.002;0.0;0.002;0.0;0.002	T	0.29579	-1.0007	10	0.39692	T	0.17	-0.0012	6.1575	0.20346	0.2733:0.1265:0.6002:0.0	.	61;40;61;61;61;61	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	I	61;61;61;61;61;61;40	ENSP00000376293:V61I;ENSP00000352713:V61I;ENSP00000349591:V61I;ENSP00000387248:V61I;ENSP00000190611:V61I;ENSP00000386885:V61I;ENSP00000318723:V40I	ENSP00000190611:V61I	V	+	1	0	OSBPL6	178897228	0.118000	0.22208	0.006000	0.13384	0.807000	0.45602	1.582000	0.36568	0.417000	0.25871	0.655000	0.94253	GTC	-	NULL		0.488	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	protein_coding	OTTHUMT00000334393.2	G	NM_032523	-		179188982	1	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	SNP	0.007	A	A	179188982	G	A	179188982	3	1	135	1	0	0	0	0	1	0	0	0	11283	1029	36	2	230	2	OSBPL6	2	179188982	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	20533044	179188982	64010391	12	10186											
TTN	7273	genome.wustl.edu	37	chr2	179438310	179438310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttcaagagtttagtgacCtttagctttgttacttggac	8	8	1	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:179438310C>A	ENST00000591111.1	-	276	67850	c.67626G>T	c.(67624-67626)aaG>aaT	p.K22542N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15243N|TTN_ENST00000460472.2_Missense_Mutation_p.K15118N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K24183N|TTN_ENST00000342992.6_Missense_Mutation_p.K21615N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15310N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22542	Fibronectin type-III 63. {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.K15310N(1)|p.K15243N(1)|p.K21615N(1)|p.K15118N(1)|p.K21613N(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)			GTTTAGTGACCTTTAGCTTTG	0.423																																																	5	Substitution - Missense(5)	lung(5)						ENSG00000155657						266	261	263					2																	179438310		1920	4131	6051	TTN	SO:0001583	missense	0			-	HGNC	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.67626G>T	2.37:g.179438310C>A	ENSP00000465570:p.Lys22542Asn	Somatic	0	41	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	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	54	0	0	45	19.64	11	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K21615N	ENST00000591111.1	37	c.64845		2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348070	0.24426	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.08	4.23	0.50019	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64011	0.2560	L	0.48935	1.535	0.53005	D	0.99996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64879	-0.6303	9	0.87932	D	0	.	10.793	0.46445	0.0:0.7835:0.0:0.2165	.	15118;15243;15310;22542	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21615;15118;15310;15243;15116	ENSP00000343764:K21615N;ENSP00000434586:K15118N;ENSP00000340554:K15310N;ENSP00000352154:K15243N	ENSP00000340554:K15310N	K	-	3	2	TTN	179146556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.693000	0.37742	0.846000	0.35142	0.655000	0.94253	AAG	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179438310	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179438310	C	A	179438310	3	1	135	1	0	0	0	0	1	0	0	0	16742	680	24	3	35578	3	TTN	2	179438310	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	249328	179438310	63761063	13	10187											
TTN	7273	genome.wustl.edu	37	chr2	179596646	179596646	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagcaacatgacatcGtactcctttaagacttcaat	5	12	2	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:179596646G>C	ENST00000591111.1	-	56	16229	c.16005C>G	c.(16003-16005)taC>taG	p.Y5335*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y5652*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y4408*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12155	Ig-like 34.				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)			ACATGACATCGTACTCCTTTA	0.423																																																	0								ENSG00000155657						89	91	91					2																	179596646		2014	4192	6206	TTN	SO:0001587	stop_gained	0			-	HGNC	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.16005C>G	2.37:g.179596646G>C	ENSP00000465570:p.Tyr5335*	Somatic	0	33	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	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	Nonsense_Mutation	SNP	46	0	0	35	33.96	18	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y4408*	ENST00000591111.1	37	c.13224		2	.	.	.	.	.	.	.	.	.	.	G	54	22.988832	0.99952	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	-0.54	0.11861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.7519	0.13064	0.4783:0.0:0.3109:0.2108	.	.	.	.	X	4408	.	ENSP00000343764:Y4408X	Y	-	3	2	TTN	179304891	0.025000	0.19082	0.991000	0.47740	0.990000	0.78478	-0.555000	0.05999	-0.245000	0.09625	-0.290000	0.09829	TAC	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179596646	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	SNP	0.944	C	C	179596646	G	C	179596646	4	2	135	1	0	0	0	0	0	1	0	0	16742	1140	40	4	87793	4	TTN	2	179596646	Nonsense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	158336	179596646	63602727	14	10188											
NBEAL1	65065	genome.wustl.edu	37	chr2	203942512	203942512	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctcaaggaaagtctTaaatgttgcttattgcatct	7	7	3	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:203942512T>G	ENST00000449802.1	+	8	969	c.636T>G	c.(634-636)ctT>ctG	p.L212L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	212										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						AGGAAAGTCTTAAATGTTGCT	0.284																																																	0								ENSG00000144426						54	50	51					2																	203942512		692	1591	2283	NBEAL1	SO:0001819	synonymous_variant	0			-	HGNC	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.636T>G	2.37:g.203942512T>G		Somatic	0	78	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	48	0	0	92	17.12	19	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L212	ENST00000449802.1	37	c.636	CCDS46495.1	2																																																																																			-	superfamily_ARM-type_fold		0.284	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	protein_coding	OTTHUMT00000333982.4	T		-		203942512	1	no_errors	ENST00000449802	ensembl	human	known	74_37	silent	SNP	0.996	G	G	203942512	T	G	203942512	2	3	135	1	0	0	0	0	0	0	0	1	10190	1741	61	5		5	NBEAL1	2	203942512	Silent	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09	24345866	203942512	39256861	15	10189											
ABCB6	10058	genome.wustl.edu	37	chr2	220074953	220074953	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctatgtgtctcttaccGtcccctctccacgatgcagc	7	15	3	1	rs201568572		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:220074953G>A	ENST00000265316.3	-	18	2735	c.2419C>T	c.(2419-2421)Cga>Tga	p.R807*	ABCB6_ENST00000439002.2_Splice_Site_p.R761*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	807	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTCTTACCGTCCCCTCTCC	0.552																																																	0								ENSG00000115657						106	100	102					2																	220074953		2203	4300	6503	ABCB6	SO:0001630	splice_region_variant	0			-	HGNC	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2420+1C>T	2.37:g.220074953G>A		Somatic	0	63	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Nonsense_Mutation	SNP	21	0	0	41	36.92	24	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R807*	ENST00000265316.3	37	c.2419	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.513863	0.98843	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	.	.	.	4.76	2.75	0.32379	.	0.108054	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9748	11.1539	0.48476	0.0:0.0:0.4282:0.5718	.	.	.	.	X	807;761	.	ENSP00000265316:R807X	R	-	1	2	ABCB6	219783197	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.779000	0.47734	1.306000	0.44926	0.603000	0.83216	CGA	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	protein_coding	OTTHUMT00000256820.2	G	NM_005689	rs201568572	Nonsense_Mutation	220074953	-1	no_errors	ENST00000265316	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	220074953	G	A	220074953	5	1	135	1	0	0	0	0	0	0	1	0	45	1159	40	1	117	1	ABCB6	2	220074953	Splice_Site	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	16132441	220074953	23124420	16	10190											
SPEG	10290	genome.wustl.edu	37	chr2	220353597	220353597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagccgggcaccttgcacGtatacgctggagcggcgagt	15	12	0	0	rs374304716		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr2:220353597G>A	ENST00000312358.7	+	34	8256	c.8124G>A	c.(8122-8124)acG>acA	p.T2708T	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2708	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CACCTTGCACGTATACGCTGG	0.657																																																	0								ENSG00000072195	G		1,4091		0,1,2045	23	26	25		8124	-8.5	0.6	2		25	0,8366		0,0,4183	no	coding-synonymous	SPEG	NM_005876.4		0,1,6228	AA,AG,GG		0.0,0.0244,0.0080		2708/3268	220353597	1,12457	2046	4183	6229	SPEG	SO:0001819	synonymous_variant	0			-	HGNC	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.8124G>A	2.37:g.220353597G>A		Somatic	0	56	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	51	28.17	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	25	0	0	35	22.22	10	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T2708	ENST00000312358.7	37	c.8124	CCDS42824.1	2																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876	-		220353597	1	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	SNP	0.086	A	A	220353597	G	A	220353597	2	1	135	1	0	0	0	0	0	0	0	1	15043	1132	40	1		1	SPEG	2	220353597	Silent	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	278644	220353597	22845776	17	10191											
SRGAP3	9901	genome.wustl.edu	37	chr3	9055464	9055464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatgaccacaatgaccaCgcggggaagggtgacgagga	14	10	1	3	rs547978979		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr3:9055464C>T	ENST00000383836.3	-	16	2303	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V602M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	626	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ACAATGACCACGCGGGGAAGG	0.557			T	RAF1	pilocytic astrocytoma								C|||	1	0.000199681	8e-04	0	5008	,	,		17488	0		0	False		,,,				2504	0							Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0								ENSG00000196220						152	139	144					3																	9055464		2203	4300	6503	SRGAP3	SO:0001583	missense	0			-	HGNC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1876G>A	3.37:g.9055464C>T	ENSP00000373347:p.Val626Met	Somatic	0	77	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	61	34.41	Q8IX13|Q8IZV8	Missense_Mutation	SNP	40	0	0	35	33.96	18	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V626M	ENST00000383836.3	37	c.1876	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678124	0.47886	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.19938	2.11;2.11	5.26	5.26	0.73747	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.350897	0.28853	N	0.013939	T	0.28234	0.0697	L	0.43554	1.36	0.32238	N	0.573092	P;P	0.48230	0.897;0.907	P;P	0.50109	0.498;0.631	T	0.30650	-0.9971	10	0.72032	D	0.01	.	13.4604	0.61223	0.1567:0.8433:0.0:0.0	.	602;626	O43295-2;O43295	.;SRGP2_HUMAN	M	626;602	ENSP00000373347:V626M;ENSP00000353587:V602M	ENSP00000353587:V602M	V	-	1	0	SRGAP3	9030464	0.830000	0.29337	1.000000	0.80357	0.981000	0.71138	1.473000	0.35387	2.465000	0.83290	0.655000	0.94253	GTG	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	protein_coding	OTTHUMT00000207137.3	C		-		9055464	-1	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	SNP	0.985	T	T	9055464	C	T	9055464	3	4	135	1	0	0	0	0	1	0	0	0	15154	536	19	1	1451	1	SRGAP3	3	9055464	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09		9055464	188966966	18	10192											
RPL14	9045	genome.wustl.edu	37	chr3	40503520	40503521	+	In_Frame_Ins	INS	-	-	CTGCTGCTGCTGCTG													agcacctggtactaagggtaINSctgctgctgctgctgctgct					rs370958149|rs369485042|rs200018880|rs147295890|rs57354599|rs111899316	byFrequency	TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr3:40503520_40503521insCTGCTGCTGCTGCTG	ENST00000396203.2	+	6	577_578	c.445_446insCTGCTGCTGCTGCTG	c.(445-447)act>aCTGCTGCTGCTGCTGct	p.159_160insAAAAA	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_In_Frame_Ins_p.159_160insAAAAA	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	159			A -> AA.|A -> AAA.|A -> AAAA.|A -> AAAAA.|A -> AAAAAA. {ECO:0000269|PubMed:11875025, ECO:0000269|PubMed:9480843, ECO:0000269|Ref.5}.|A -> AAAAAAAA.|Missing. {ECO:0000269|PubMed:8549859, ECO:0000269|Ref.10}.		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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TACTAAGGGTActgctgctgct	0.47														948	0.189297	0.0855	0.2248	5008	,	,		14209	0.1548		0.3012	False		,,,				2504	0.2249																0								ENSG00000188846																																			RPL14	SO:0001652	inframe_insertion	0				HGNC	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.461_475dupCTGCTGCTGCTGCTG	3.37:g.40503520_40503521insCTGCTGCTGCTGCTG	ENSP00000379506:p.Ala155_Ala159dup	Somatic									WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	In_Frame_Ins	INS	23	20.69	6	40	13.04	6	pfam_Ribosomal_L14	p.153in_frame_insAAAAA	ENST00000396203.2	37	c.445_446	CCDS43070.1	3																																																																																			-	NULL		0.47	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL14	protein_coding	OTTHUMT00000342889.2	-	NM_003973			40503521	1	no_errors	ENST00000338970	ensembl	human	known	74_37	in_frame_ins	INS	0.019:0.022	CTGCTGCTGCTGCTG	CTGCTGCTGCTGCTG	40503521	-	CTGCTGCTGCTGCTG	40503520	7	5	135	1	0	1	1	0	0	0	0	0	13569	391	14	0	474	0	RPL14	3	40503520	In_Frame_Ins	INS	-	TCGA-FX-A2QS-01A-11D-A21Q-09	31448056	40503520	157518910	19	10193											
PHLDB2	90102	genome.wustl.edu	37	chr3	111651219	111651219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgagtccatgagggAacagttacaacaacaactga	9	9	0	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr3:111651219A>C	ENST00000431670.2	+	6	2516	c.2105A>C	c.(2104-2106)gAa>gCa	p.E702A	PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E702A|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E288A	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	702						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCATGAGGGAACAGTTACAA	0.438																																																	0								ENSG00000144824						97	86	89					3																	111651219		692	1591	2283	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2105A>C	3.37:g.111651219A>C	ENSP00000405405:p.Glu702Ala	Somatic	0	24	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	22	55.10	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	35	0	0	30	55.22	37	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E702A	ENST00000431670.2	37	c.2105	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523297	0.85600	.	.	ENSG00000144824	ENST00000431670;ENST00000393925;ENST00000495180	T;T;T	0.38887	1.11;1.11;1.46	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.958	T	0.65768	-0.6088	9	0.49607	T	0.09	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	288;702	E9PGF6;Q86SQ0	.;PHLB2_HUMAN	A	702;702;288	ENSP00000405405:E702A;ENSP00000377502:E702A;ENSP00000420303:E288A	ENSP00000377502:E702A	E	+	2	0	PHLDB2	113133909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.809000	0.91944	2.371000	0.80710	0.533000	0.62120	GAA	-	NULL		0.438	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	A	NM_145753	-		111651219	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	1.000	C	C	111651219	A	C	111651219	3	2	135	1	0	0	0	0	1	0	0	0	11854	246	9	5	2208	5	PHLDB2	3	111651219	Missense_Mutation	SNP	A	TCGA-FX-A2QS-01A-11D-A21Q-09	71147699	111651219	86371211	20	10194											
HEATR7B2	133558	genome.wustl.edu	37	chr5	40998776	40998776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaaattgagaacaacgGcatctaaagttaataggaga	10	5	2	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr5:40998776G>T	ENST00000399564.4	-	41	5039	c.4589C>A	c.(4588-4590)gCc>gAc	p.A1530D	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1085D	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1530																	GAGAACAACGGCATCTAAAGT	0.408																																																	0								ENSG00000171495						76	76	76					5																	40998776		1867	4092	5959	MROH2B	SO:0001583	missense	0			-	HGNC		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.4589C>A	5.37:g.40998776G>T	ENSP00000382476:p.Ala1530Asp	Somatic	0	33	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	29	0	0	49	19.67	12	superfamily_ARM-type_fold	p.A1530D	ENST00000399564.4	37	c.4589	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117635	0.56505	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.63255	-0.03;-0.03	5.92	5.92	0.95590	Armadillo-like helical (1);Armadillo-type fold (1);	0.263953	0.27433	N	0.019396	T	0.68622	0.3021	L	0.51422	1.61	0.44110	D	0.99688	D	0.59357	0.985	P	0.54664	0.758	T	0.65364	-0.6186	10	0.36615	T	0.2	.	15.8207	0.78638	0.0:0.0:1.0:0.0	.	1530	Q7Z745	HTRB2_HUMAN	D	1085;1235;1530	ENSP00000441504:A1085D;ENSP00000382476:A1530D	ENSP00000296803:A1235D	A	-	2	0	HEATR7B2	41034533	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.489000	0.60309	2.809000	0.96659	0.655000	0.94253	GCC	-	superfamily_ARM-type_fold		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	G	NM_173489	-		40998776	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40998776	G	T	40998776	3	4	135	1	0	0	0	0	1	0	0	0	7037	1203	42	3	176	3	HEATR7B2	5	40998776	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09		40998776	139916484	21	10195											
MSH3	4437	genome.wustl.edu	37	chr5	79950712	79950738	+	In_Frame_Del	DEL	GCGGCCGCAGCGGCCGCAGCGCCCCCA	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-													ctggcgctgcagcggctgcaGcggccgcagcggccgcagcg					rs2431220|rs2001675|rs2405876|rs2405877|rs201874762|rs144776112|rs1574197|rs148550291|rs201906899|rs535056167|rs60484572|rs70991168|rs201149584	byFrequency	TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	GCGGCCGCAGCGGCCGCAGCGCCCCCA	GCGGCCGCAGCGGCCGCAGCGCCCCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr5:79950712_79950738delGCGGCCGCAGCGGCCGCAGCGCCCCCA	ENST00000265081.6	+	1	246_272	c.166_192delGCGGCCGCAGCGGCCGCAGCGCCCCCA	c.(166-192)gcggccgcagcggccgcagcgcccccadel	p.AAAAAAAPP56del	DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	56	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		agcggctgcagcggccgcagcggccgcagcgCCCCCAGCGCCCCCAG	0.705								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318																																			MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.166_192delGCGGCCGCAGCGGCCGCAGCGCCCCCA	5.37:g.79950712_79950738delGCGGCCGCAGCGGCCGCAGCGCCCCCA	ENSP00000265081:p.Ala56_Pro64del	Somatic					0.663222198489225				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	20	0	0	19	0.00	0	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAAPPA57in_frame_del	ENST00000265081.6	37	c.166_192	CCDS34195.1	5																																																																																			-	NULL		0.705	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCGGCCGCAGCGGCCGCAGCGCCCCCA	NM_002439			79950738	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.238:0.205:0.172:0.140:0.107:0.075:0.032:0.035:0.048:0.057:0.087:0.730:0.747:0.894:0.911:0.915:0.941:0.965:0.997:1.000:1.000:1.000:1.000:0.988:0.984:0.963:0.965	-	-	79950738	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-	79950712	7	5	135	1	0	1	0	1	0	0	0	0	9873	971	34	0	168	0	MSH3	5	79950712	In_Frame_Del	DEL	GCGGCCGCAGCGGCCGCAGCGCCCCCA	TCGA-FX-A2QS-01A-11D-A21Q-09	38951936	79950712	100964548	22	10196											
WIPI2	26100	genome.wustl.edu	37	chr7	5254196	5254196	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatgtgtgcattgtagagaGattgttctccagcagcctag	12	7	1	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr7:5254196G>C	ENST00000288828.4	+	4	474	c.242G>C	c.(241-243)aGa>aCa	p.R81T	WIPI2_ENST00000404704.3_Missense_Mutation_p.R81T|WIPI2_ENST00000484262.1_Missense_Mutation_p.R22T|WIPI2_ENST00000401525.3_Missense_Mutation_p.R63T|WIPI2_ENST00000382384.2_Missense_Mutation_p.R63T|WIPI2_ENST00000485854.1_3'UTR	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	81					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		ATTGTAGAGAGATTGTTCTCC	0.488																																																	0								ENSG00000157954						229	193	205					7																	5254196		2203	4300	6503	WIPI2	SO:0001583	missense	0			-	HGNC		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.242G>C	7.37:g.5254196G>C	ENSP00000288828:p.Arg81Thr	Somatic	0	112	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	106	15.87	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	45	0	0	67	25.27	23	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R81T	ENST00000288828.4	37	c.242	CCDS5339.1	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194641	0.78902	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.64991	0.76;0.76;0.76;0.76;-0.13	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	M	0.92507	3.315	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	0.91635	0.996;0.974;0.999;0.997;0.997;0.99	D	0.87174	0.2223	10	0.52906	T	0.07	-27.7917	19.013	0.92881	0.0:0.0:1.0:0.0	.	75;22;63;63;81;81	E7EVF6;Q9Y4P8-3;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;.;WIPI2_HUMAN	T	81;63;81;63;22;75	ENSP00000288828:R81T;ENSP00000384945:R63T;ENSP00000385297:R81T;ENSP00000371821:R63T;ENSP00000429654:R22T	ENSP00000288828:R81T	R	+	2	0	WIPI2	5220722	1.000000	0.71417	0.507000	0.27676	0.552000	0.35366	9.363000	0.97131	2.571000	0.86741	0.655000	0.94253	AGA	-	superfamily_WD40_repeat_dom		0.488	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	protein_coding	OTTHUMT00000241669.2	G	NM_015610	-		5254196	1	no_errors	ENST00000288828	ensembl	human	known	74_37	missense	SNP	1.000	C	C	5254196	G	C	5254196	3	2	135	1	0	0	0	0	1	0	0	0	17378	942	33	4	290	4	WIPI2	7	5254196	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09		5254196	153884467	23	10197											
DBF4	10926	genome.wustl.edu	37	chr7	87514432	87514432	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcagaaaccacttcacctCatcccagccatgatggaagt	7	14	2	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr7:87514432C>G	ENST00000265728.1	+	3	862	c.358C>G	c.(358-360)Cat>Gat	p.H120D		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	120	BRCT 1.				DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CACTTCACCTCATCCCAGCCA	0.408																																																	0								ENSG00000006634						79	76	77					7																	87514432		2203	4300	6503	DBF4	SO:0001583	missense	0			-	HGNC	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.358C>G	7.37:g.87514432C>G	ENSP00000265728:p.His120Asp	Somatic	0	39	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	54	0	0	67	37.96	41	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.H120D	ENST00000265728.1	37	c.358	CCDS5611.1	7	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000317	0.19121	.	.	ENSG00000006634	ENST00000265728	T	0.10668	2.85	5.43	4.49	0.54785	BRCT (1);	0.412442	0.27008	N	0.021392	T	0.06826	0.0174	L	0.27053	0.805	0.42541	D	0.993074	P	0.36874	0.572	B	0.27170	0.077	T	0.30297	-0.9983	10	0.41790	T	0.15	-15.412	10.7457	0.46179	0.1467:0.7118:0.1416:0.0	.	120	Q9UBU7	DBF4A_HUMAN	D	120	ENSP00000265728:H120D	ENSP00000265728:H120D	H	+	1	0	DBF4	87352368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.259000	0.51515	2.550000	0.86006	0.591000	0.81541	CAT	-	superfamily_BRCT_dom		0.408	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	protein_coding	OTTHUMT00000253678.1	C	NM_006716	-		87514432	1	no_errors	ENST00000265728	ensembl	human	known	74_37	missense	SNP	1.000	G	G	87514432	C	G	87514432	3	3	135	1	0	0	0	0	1	0	0	0	4250	826	29	4	368	4	DBF4	7	87514432	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	82260236	87514432	71624231	24	10198											
TJP2	9414	genome.wustl.edu	37	chr9	71869131	71869132	+	Frame_Shift_Ins	INS	-	-	C													ctttttttgttagttccagaINSccccctgagccacagaaagc					rs371868714		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr9:71869131_71869132insC	ENST00000377245.4	+	23	3622_3623	c.3414_3415insC	c.(3415-3417)cccfs	p.P1139fs	TJP2_ENST00000539225.1_Frame_Shift_Ins_p.P1170fs|TJP2_ENST00000453658.2_Frame_Shift_Ins_p.P969fs|TJP2_ENST00000535702.1_Frame_Shift_Ins_p.P1106fs|TJP2_ENST00000348208.4_Frame_Shift_Ins_p.P992fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1139					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TTAGTTCCAGACCCCCTGAGCC	0.545																																																	0								ENSG00000119139																																			TJP2	SO:0001589	frameshift_variant	0				HGNC	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3419dupC	9.37:g.71869136_71869136dupC	ENSP00000366453:p.Pro1139fs	Somatic	0	39	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Frame_Shift_Ins	INS	43	0	0	58	20.55	15	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.E1171fs	ENST00000377245.4	37	c.3507_3508	CCDS6627.1	9																																																																																			-	NULL		0.545	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	protein_coding	OTTHUMT00000052572.2	-	NM_201629			71869132	1	no_errors	ENST00000539225	ensembl	human	known	74_37	frame_shift_ins	INS	0.167:0.194	C	C	71869132	-	C	71869131	7	5	135	1	0	1	1	0	0	0	0	0	15937	272	10	0	3763	0	TJP2	9	71869131	Frame_Shift_Ins	INS	-	TCGA-FX-A2QS-01A-11D-A21Q-09		71869131	69344300	25	10199											
MRC1	4360	genome.wustl.edu	37	chr10	17891663	17891663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattcacagagatgagaaaAaaatccagagggatgctctg	11	6	2	4			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr10:17891663A>G	ENST00000331429.2	+	7	1247	c.1144A>G	c.(1144-1146)Aaa>Gaa	p.K382E	MRC1L1_ENST00000457317.1_Missense_Mutation_p.K382E																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGATGAGAAAAAAATCCAGAG	0.488																																																	0								ENSG00000183748						83	104	97					10																	17891663		2168	4170	6338	MRC1L1	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000331429.2:c.1144A>G	10.37:g.17891663A>G	ENSP00000332124:p.Lys382Glu	Somatic	0	24	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	0	100.00		Missense_Mutation	SNP	8	0	0	1	91.67	11	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.K382E	ENST00000331429.2	37	c.1144		10	.	.	.	.	.	.	.	.	.	.	A	14.66	2.600753	0.46423	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.11604	3.45;2.76	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000016	T	0.16128	0.0388	.	.	.	0.32328	N	0.561445	D	0.76494	0.999	D	0.68621	0.959	T	0.11941	-1.0567	8	0.08837	T	0.75	-27.6767	7.2915	0.26368	0.8971:0.0:0.1029:0.0	.	382	B9EJA8	.	E	382	ENSP00000332124:K382E;ENSP00000391843:K382E	ENSP00000332124:K382E	K	+	1	0	AL928580.1	17931669	1.000000	0.71417	0.986000	0.45419	0.631000	0.37964	3.420000	0.52735	1.691000	0.51100	0.378000	0.23410	AAA	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.488	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	101928757	protein_coding	OTTHUMT00000047054.1	A		-		17891663	1	no_errors	ENST00000457317	ensembl	human	known	74_37	missense	SNP	0.970	G	G	17891663	A	G	17891663	3	3	135	1	0	0	0	0	1	0	0	0	9758	15	1	5	1170	5	MRC1	10	17891663	Missense_Mutation	SNP	A	TCGA-FX-A2QS-01A-11D-A21Q-09		17891663	117643084	26	10200											
KIAA1217	56243	genome.wustl.edu	37	chr10	24810764	24810764	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccatcctgcgcatagaagtgGaggccgtgcggtttctgaag	14	10	1	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr10:24810764G>C	ENST00000376454.3	+	12	2392	c.2362G>C	c.(2362-2364)Gag>Cag	p.E788Q	KIAA1217_ENST00000458595.1_Missense_Mutation_p.E753Q|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E708Q|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E471Q|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E471Q|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E753Q|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E471Q|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E471Q	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	788					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						CATAGAAGTGGAGGCCGTGCG	0.552																																																	0								ENSG00000120549						85	84	84					10																	24810764		2203	4300	6503	KIAA1217	SO:0001583	missense	0			-	HGNC	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.2362G>C	10.37:g.24810764G>C	ENSP00000365637:p.Glu788Gln	Somatic	0	32	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	22	0	0	28	37.78	17	pfam_AIP3_C	p.E788Q	ENST00000376454.3	37	c.2362	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.376574	0.95945	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.80616	2.505	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;0.999;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.999;0.998;0.995;0.998	T	0.79157	-0.1919	10	0.56958	D	0.05	.	20.3802	0.98930	0.0:0.0:1.0:0.0	.	753;753;471;471;471;471;788;788	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	Q	708;753;753;471;788;753;603;471;471;471;471;471	ENSP00000365645:E708Q;ENSP00000365639:E753Q;ENSP00000392625:E753Q;ENSP00000365637:E788Q;ENSP00000365635:E753Q;ENSP00000404798:E603Q;ENSP00000302343:E471Q;ENSP00000379722:E471Q;ENSP00000365634:E471Q;ENSP00000379723:E471Q	ENSP00000302343:E471Q	E	+	1	0	KIAA1217	24850770	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.822000	0.97130	0.563000	0.77884	GAG	-	NULL		0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	G	NM_019590	-		24810764	1	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24810764	G	C	24810764	3	2	135	1	0	0	0	0	1	0	0	0	8218	1175	41	4	2408	4	KIAA1217	10	24810764	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	6919101	24810764	110723983	27	10201											
CYP2C18	1562	genome.wustl.edu	37	chr10	96495187	96495187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccttgtaccagctctgcTtcattcctgtctgaagaagg	8	13	3	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr10:96495187T>G	ENST00000285979.6	+	9	1658	c.1459T>G	c.(1459-1461)Ttc>Gtc	p.F487V	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.F428V	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	487					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCAGCTCTGCTTCATTCCTGT	0.502																																																	0								ENSG00000108242						190	174	180					10																	96495187		2203	4300	6503	CYP2C18	SO:0001583	missense	0			-	HGNC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1459T>G	10.37:g.96495187T>G	ENSP00000285979:p.Phe487Val	Somatic	0	85	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	64	30.43	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	42	0	0	24	29.41	10	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F487V	ENST00000285979.6	37	c.1459	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	t	13.13	2.146560	0.37923	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.68331	-0.32;-0.32	4.05	4.05	0.47172	.	0.166042	0.39341	U	0.001395	T	0.70168	0.3193	L	0.33624	1.015	0.80722	D	1	D;B	0.89917	1.0;0.26	D;B	0.91635	0.999;0.255	T	0.66976	-0.5787	10	0.29301	T	0.29	.	11.0524	0.47898	0.0:0.0:0.0:1.0	.	428;487	Q4VAT5;P33260	.;CP2CI_HUMAN	V	428;487	ENSP00000341293:F428V;ENSP00000285979:F487V	ENSP00000285979:F487V	F	+	1	0	CYP2C18	96485177	0.137000	0.22531	0.235000	0.24058	0.302000	0.27658	1.502000	0.35704	1.686000	0.51046	0.369000	0.22263	TTC	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.502	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	protein_coding	OTTHUMT00000049486.1	T	NM_000772	-		96495187	1	no_errors	ENST00000285979	ensembl	human	known	74_37	missense	SNP	0.793	G	G	96495187	T	G	96495187	3	3	135	1	0	0	0	0	1	0	0	0	4167	1609	56	5	1493	5	CYP2C18	10	96495187	Missense_Mutation	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09	71684423	96495187	39039560	28	10202											
PSD	5662	genome.wustl.edu	37	chr10	104174766	104174766	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaggtgggtaggcagtGcctggtgggccctcagagct	20	9	1	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr10:104174766G>T	ENST00000020673.5	-	4	1504	c.978C>A	c.(976-978)ggC>ggA	p.G326G	PSD_ENST00000406432.1_Silent_p.G326G|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	326					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGTAGGCAGTGCCTGGTGGGC	0.672																																																	0								ENSG00000059915						69	58	61					10																	104174766		2203	4300	6503	PSD	SO:0001819	synonymous_variant	0			-	HGNC	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.978C>A	10.37:g.104174766G>T		Somatic	0	71	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	61	29.89	B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	27	3.57	1	35	33.96	18	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.G326	ENST00000020673.5	37	c.978	CCDS31272.1	10																																																																																			-	NULL		0.672	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	protein_coding	OTTHUMT00000050041.2	G		-		104174766	-1	no_errors	ENST00000020673	ensembl	human	known	74_37	silent	SNP	0.988	T	T	104174766	G	T	104174766	2	4	135	1	0	0	0	0	0	0	0	1	12651	1306	46	3		3	PSD	10	104174766	Silent	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	7679579	104174766	31359981	29	10203											
ANO3	63982	genome.wustl.edu	37	chr11	26681890	26681890	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacatgaccgaatacgacgaGagaagtacttagttcaagaa	9	7	1	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr11:26681890G>C	ENST00000256737.3	+	27	3697	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	ANO3_ENST00000537978.1_Missense_Mutation_p.E933Q|ANO3_ENST00000525139.1_Missense_Mutation_p.E933Q|ANO3_ENST00000531568.1_Missense_Mutation_p.E803Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	949					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						AATACGACGAGAGAAGTACTT	0.413																																																	0								ENSG00000134343						150	138	142					11																	26681890		2203	4299	6502	ANO3	SO:0001583	missense	0			-	HGNC	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.2845G>C	11.37:g.26681890G>C	ENSP00000256737:p.Glu949Gln	Somatic	0	55	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	56	28.21	B7Z3F5	Missense_Mutation	SNP	41	0	0	36	21.74	10	pfam_Anoctamin	p.E949Q	ENST00000256737.3	37	c.2845	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.491984	0.96339	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81656	-0.0834	10	0.59425	D	0.04	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	851;949	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	Q	933;933;949;851;803	ENSP00000440737:E933Q;ENSP00000432576:E933Q;ENSP00000256737:E949Q;ENSP00000432394:E803Q	ENSP00000256737:E949Q	E	+	1	0	ANO3	26638466	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.667000	0.90743	0.650000	0.86243	GAG	-	pfam_Anoctamin		0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	protein_coding	OTTHUMT00000387806.1	G	NM_031418	-		26681890	1	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26681890	G	C	26681890	3	2	135	1	0	0	0	0	1	0	0	0	698	943	33	4	2951	4	ANO3	11	26681890	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09		26681890	108324626	30	10204											
TRIM29	23650	genome.wustl.edu	37	chr11	120008625	120008625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgttggtggtcttggcatCcttgccgtcagccttggtgc	13	13	2	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr11:120008625C>T	ENST00000341846.5	-	1	536	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	39					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTCTTGGCATCCTTGCCGTCA	0.697																																																	0								ENSG00000137699						50	50	50					11																	120008625		2203	4299	6502	TRIM29	SO:0001583	missense	0			-	HGNC	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.115G>A	11.37:g.120008625C>T	ENSP00000343129:p.Asp39Asn	Somatic	0	49	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	79	24.04	Q96AA9|Q9BZY7	Missense_Mutation	SNP	27	0	0	49	20.97	13	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.D39N	ENST00000341846.5	37	c.115	CCDS8428.1	11	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027776	0.54790	.	.	ENSG00000137699	ENST00000341846;ENST00000529011;ENST00000529495;ENST00000532833	T	0.37915	1.17	5.37	5.37	0.77165	.	0.545863	0.18295	N	0.145582	T	0.21468	0.0517	N	0.19112	0.55	0.80722	D	1	B	0.23735	0.09	B	0.21360	0.034	T	0.09751	-1.0660	9	.	.	.	.	8.2781	0.31885	0.0:0.8655:0.0:0.1345	.	39	Q14134	TRI29_HUMAN	N	39	ENSP00000343129:D39N	.	D	-	1	0	TRIM29	119513835	1.000000	0.71417	0.482000	0.27366	0.967000	0.64934	3.170000	0.50816	2.505000	0.84491	0.655000	0.94253	GAT	-	NULL		0.697	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	protein_coding	OTTHUMT00000277108.2	C	NM_012101	-		120008625	-1	no_errors	ENST00000341846	ensembl	human	known	74_37	missense	SNP	0.985	T	T	120008625	C	T	120008625	3	4	135	1	0	0	0	0	1	0	0	0	16510	855	30	2	1687	2	TRIM29	11	120008625	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	93326735	120008625	14997891	31	10205											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18477970	18477970	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctattttttattttccagaCaatgtctcttaacactcatc	2	10	3	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:18477970C>A	ENST00000266497.5	+	7	1248	c.1210C>A	c.(1210-1212)Caa>Aaa	p.Q404K	PIK3C2G_ENST00000535651.1_Splice_Site_p.Q404K|PIK3C2G_ENST00000433979.1_Splice_Site_p.Q404K|PIK3C2G_ENST00000538779.1_Splice_Site_p.Q404K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	404					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTCCAGACAATGTCTCTT	0.308																																																	0								ENSG00000139144						66	63	64					12																	18477970		1797	4061	5858	PIK3C2G	SO:0001630	splice_region_variant	0			-	HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1209-1C>A	12.37:g.18477970C>A		Somatic	0	44	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	A1L3U0	Missense_Mutation	SNP	40	0	0	32	50.00	32	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.Q404K	ENST00000266497.5	37	c.1210	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121438	0.20877	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.61859	1.38;0.07;0.07;0.13	4.11	4.11	0.48088	.	0.147376	0.31210	N	0.008046	T	0.48786	0.1519	M	0.63843	1.955	0.33892	D	0.637466	P;P;P	0.43352	0.704;0.804;0.704	B;B;B	0.33254	0.077;0.16;0.077	T	0.66748	-0.5845	10	0.42905	T	0.14	-5.8532	12.1492	0.54040	0.0:1.0:0.0:0.0	.	403;404;404	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	K	404	ENSP00000443850:Q404K;ENSP00000404845:Q404K;ENSP00000266497:Q404K;ENSP00000445381:Q404K	ENSP00000266497:Q404K	Q	+	1	0	PIK3C2G	18369237	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	0.624000	0.24462	2.573000	0.86826	0.655000	0.94253	CAA	-	NULL		0.308	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	C	NM_004570	-	Missense_Mutation	18477970	1	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18477970	C	A	18477970	5	1	135	1	0	0	0	0	0	0	1	0	11913	492	17	3	1236	3	PIK3C2G	12	18477970	Splice_Site	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09		18477970	115373925	32	10206											
KRT79	338785	genome.wustl.edu	37	chr12	53228026	53228026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgtggagtatgtttgccGagagacggaggacctcatag	14	6	1	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:53228026G>A	ENST00000330553.5	-	1	53	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	7	Head.					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						TATGTTTGCCGAGAGACGGAG	0.622																																																	0								ENSG00000185640						29	28	28					12																	53228026		2203	4299	6502	KRT79	SO:0001583	missense	0			-	HGNC	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.19C>T	12.37:g.53228026G>A	ENSP00000328358:p.Arg7Trp	Somatic	0	67	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	70	33.33	Q6P465|Q7Z793	Missense_Mutation	SNP	24	0	0	29	38.30	18	pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.R7W	ENST00000330553.5	37	c.19	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741576	0.15642	.	.	ENSG00000185640	ENST00000330553	T	0.21932	1.98	4.01	3.08	0.35506	.	0.151308	0.30473	N	0.009554	T	0.15955	0.0384	L	0.36672	1.1	0.23537	N	0.997464	D	0.56287	0.975	B	0.40565	0.333	T	0.10989	-1.0606	10	0.37606	T	0.19	.	12.3181	0.54969	0.0:0.0:0.8287:0.1713	.	7	Q5XKE5	K2C79_HUMAN	W	7	ENSP00000328358:R7W	ENSP00000328358:R7W	R	-	1	2	KRT79	51514293	0.810000	0.29049	0.689000	0.30133	0.201000	0.24016	1.478000	0.35442	1.230000	0.43646	0.650000	0.86243	CGG	-	NULL		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	protein_coding	OTTHUMT00000406376.1	G	NM_175834	-		53228026	-1	no_errors	ENST00000330553	ensembl	human	known	74_37	missense	SNP	0.397	A	A	53228026	G	A	53228026	3	1	135	1	0	0	0	0	1	0	0	0	8494	1057	37	1	1624	1	KRT79	12	53228026	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	34750056	53228026	80623869	33	10207											
LRP1	4035	genome.wustl.edu	37	chr12	57600488	57600488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccacttccaaccgccaCcggcgacagattgaccgggg	10	17	0	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:57600488C>T	ENST00000243077.3	+	76	12289	c.11823C>T	c.(11821-11823)caC>caT	p.H3941H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3941					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACCGCCACCGGCGACAGA	0.622																																																	0								ENSG00000123384						79	61	67					12																	57600488		2203	4300	6503	LRP1	SO:0001819	synonymous_variant	0			-	HGNC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11823C>T	12.37:g.57600488C>T		Somatic	0	41	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	22	4.35	1	28	46.15	24	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H3941	ENST00000243077.3	37	c.11823	CCDS8932.1	12																																																																																			-	superfamily_Growth_fac_rcpt_N_dom		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	protein_coding	OTTHUMT00000412772.2	C	NM_002332	-		57600488	1	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57600488	C	T	57600488	2	4	135	1	0	0	0	0	0	0	0	1	8953	506	18	2		2	LRP1	12	57600488	Silent	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	4372462	57600488	76251407	34	10208											
GEFT	115557	genome.wustl.edu	37	chr12	58008522	58008522	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctgaacgacctcctcatCaaacctgtgcagcggatcat	8	14	3	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:58008522C>T	ENST00000286494.4	+	9	1327	c.867C>T	c.(865-867)atC>atT	p.I289I	AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.I328I|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	289	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Important for binding to Rho GTPases.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCTCCTCATCAAACCTGTGC	0.597																																																	0								ENSG00000240771						29	30	29					12																	58008522		2203	4300	6503	ARHGEF25	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.867C>T	12.37:g.58008522C>T		Somatic	0	29	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	258	8.51	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	29	0	0	542	10.41	63	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I328	ENST00000286494.4	37	c.984	CCDS8947.1	12																																																																																			-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.597	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	protein_coding	OTTHUMT00000326561.1	C	NM_133483	-		58008522	1	no_errors	ENST00000333972	ensembl	human	known	74_37	silent	SNP	1.000	T	T	58008522	C	T	58008522	2	4	135	1	0	0	0	0	0	0	0	1	6330	816	29	2		2	GEFT	12	58008522	Silent	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	408034	58008522	75843373	35	10209											
GNS	2799	genome.wustl.edu	37	chr12	65130858	65130858	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatcaaactcatacagctGtctcttgtctattggcaagg	8	9	4	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:65130858G>A	ENST00000258145.3	-	9	1194	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	GNS_ENST00000543646.1_Nonsense_Mutation_p.Q374*|GNS_ENST00000542058.1_Nonsense_Mutation_p.Q322*|GNS_ENST00000418919.2_Nonsense_Mutation_p.Q286*	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	342					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TCATACAGCTGTCTCTTGTCT	0.438																																																	0								ENSG00000135677						120	115	117					12																	65130858		2203	4300	6503	GNS	SO:0001587	stop_gained	0			-	HGNC		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1024C>T	12.37:g.65130858G>A	ENSP00000258145:p.Gln342*	Somatic	0	27	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	299	43	87.17	B4DYH8|Q53F05	Nonsense_Mutation	SNP	44	2.22	1	56	91.14	576	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.Q342*	ENST00000258145.3	37	c.1024	CCDS8970.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.096589|7.096589	0.98059|0.98059	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471|ENST00000540196	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79730	.|0.4496	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77691	.|-0.2493	.|3	.|.	.|.	.|.	-16.8627|-16.8627	19.7699|19.7699	0.96359|0.96359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	286;342;374;322;259;279|161	.|.	.|.	Q|T	-|-	1|2	0|0	GNS|GNS	63417125|63417125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	9.645000|9.645000	0.98471|0.98471	2.759000|2.759000	0.94783|0.94783	0.555000|0.555000	0.69702|0.69702	CAG|ACA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.438	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	protein_coding	OTTHUMT00000401195.2	G		-		65130858	-1	no_errors	ENST00000258145	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	65130858	G	A	65130858	4	1	135	1	0	0	0	0	0	1	0	0	6552	1386	48	2	658	2	GNS	12	65130858	Nonsense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	7122336	65130858	68721037	36	10210											
MYF5	4617	genome.wustl.edu	37	chr12	81111197	81111197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccccaaccagaggctgCccaaggtggagatcctcagg	11	15	1	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:81111197C>T	ENST00000228644.3	+	1	507	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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						CCAGAGGCTGCCCAAGGTGGA	0.587																																																	0								ENSG00000111049						80	77	78					12																	81111197		2203	4300	6503	MYF5	SO:0001583	missense	0			-	HGNC		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.355C>T	12.37:g.81111197C>T	ENSP00000228644:p.Pro119Ser	Somatic	0	38	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	Q6ISR9	Missense_Mutation	SNP	37	0	0	57	24.00	18	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.P119S	ENST00000228644.3	37	c.355	CCDS9020.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.101529	0.94245	.	.	ENSG00000111049	ENST00000228644	D	0.96200	-3.94	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	N	0.12611	0.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95585	0.8650	10	0.46703	T	0.11	-8.3696	20.6208	0.99490	0.0:1.0:0.0:0.0	.	119	P13349	MYF5_HUMAN	S	119	ENSP00000228644:P119S	ENSP00000228644:P119S	P	+	1	0	MYF5	79635328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	CCC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	protein_coding	OTTHUMT00000407757.1	C	NM_005593	-		81111197	1	no_errors	ENST00000228644	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81111197	C	T	81111197	3	4	135	1	0	0	0	0	1	0	0	0	10029	739	26	2	357	2	MYF5	12	81111197	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	15980339	81111197	52740698	37	10211											
ARPC3	10094	genome.wustl.edu	37	chr12	110888066	110888066	+	5'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatcgaaccctcaccggcatCttggcggcgcccgggtttca	12	15	3	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:110888066C>A	ENST00000228825.7	-	0	146				ARPC3_ENST00000471641.1_5'UTR	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			lung(1)|ovary(1)	2						TCACCGGCATCTTGGCGGCGC	0.652											OREG0022114	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000111229						24	25	25					12																	110888066		2203	4300	6503	ARPC3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF006086	CCDS9146.1	12q24	2011-07-06	2002-08-29		ENSG00000111229	ENSG00000111229		"Actin related protein 2/3 complex subunits"	706	protein-coding gene	gene with protein product		604225	"actin related protein 2/3 complex, subunit 3 (21 kD)"			9230079, 9359840	Standard	NM_001278556		Approved	p21-Arc, ARC21	uc001tqq.3	O15145	OTTHUMG00000134333	ENST00000228825.7:c.-1G>T	12.37:g.110888066C>A		Somatic	0	44	0	1431					WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	27.12	O00554	RNA	SNP	25	0	0	39	22.00	11	-	NULL	ENST00000228825.7	37	NULL	CCDS9146.1	12																																																																																			-	-		0.652	ARPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC3	protein_coding	OTTHUMT00000259487.2	C		-		110888066	-1	no_errors	ENST00000471641	ensembl	human	known	74_37	rna	SNP	0.990	A	A	110888066	C	A	110888066	1	1	135	0	1	0	0	0	0	0	0	0	972	928	32	3		3	ARPC3	12	110888066	5'UTR	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	29776869	110888066	22963829	38	10212											
NOS1	4842	genome.wustl.edu	37	chr12	117710226	117710226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagttgtcacagtagtcGcggacaccaatctctgtgcc	12	12	2	0	rs371959195		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr12:117710226G>A	ENST00000338101.4	-	9	1807	c.1803C>T	c.(1801-1803)cgC>cgT	p.R601R	NOS1_ENST00000317775.6_Silent_p.R601R|NOS1_ENST00000344089.3_3'UTR			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)			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)		CACAGTAGTCGCGGACACCAA	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250	G	,,,	1,4391		0,1,2195	72	81	78		1803,795,795,1803	-3.9	1	12		78	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,1,6493	AA,AG,GG		0.0,0.0228,0.0077	,,,	601/1435,265/1099,265/1099,601/1469	117710226	1,12987	2196	4298	6494	NOS1	SO:0001819	synonymous_variant	0			-	HGNC		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.1803C>T	12.37:g.117710226G>A		Somatic	0	55	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	58	21.62		Silent	SNP	23	0	0	37	26.00	13	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R601	ENST00000338101.4	37	c.1803	CCDS55890.1	12																																																																																			-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	G		-		117710226	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	SNP	0.567	A	A	117710226	G	A	117710226	2	1	135	1	0	0	0	0	0	0	0	1	10543	1074	38	1		1	NOS1	12	117710226	Silent	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	6822160	117710226	16141669	39	10213											
OR11H12	440153	genome.wustl.edu	37	chr14	19378392	19378392	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtggtatcactgtgcTatagctctcttatggtcatg	11	8	3	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr14:19378392T>A	ENST00000550708.1	+	1	871	c.799T>A	c.(799-801)Tat>Aat	p.Y267N		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	267						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)		ATCACTGTGCTATAGCTCTCT	0.468																																																	0								ENSG00000257115						6	1	2					14																	19378392		83	198	281	OR11H12	SO:0001583	missense	0			-	HGNC		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.799T>A	14.37:g.19378392T>A	ENSP00000449002:p.Tyr267Asn	Somatic	0	35	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	99	24	80.49		Missense_Mutation	SNP	18	0	0	5	90.91	50	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y267N	ENST00000550708.1	37	c.799	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	t	11.32	1.602692	0.28534	.	.	ENSG00000257115	ENST00000550708	T	0.41400	1.0	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001749	T	0.64962	0.2646	M	0.92122	3.275	0.26425	N	0.976035	D	0.89917	1.0	D	0.91635	0.999	T	0.70208	-0.4935	9	0.87932	D	0	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	267	B2RN74	O11HC_HUMAN	N	267	ENSP00000449002:Y267N	ENSP00000449002:Y267N	Y	+	1	0	CR383656.1	18448392	0.000000	0.05858	0.856000	0.33681	0.039000	0.13416	0.637000	0.24659	0.518000	0.28383	0.055000	0.15244	TAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	protein_coding	OTTHUMT00000408402.1	T	NM_001013354	-		19378392	1	no_errors	ENST00000550708	ensembl	human	known	74_37	missense	SNP	0.538	A	A	19378392	T	A	19378392	3	1	135	1	0	0	0	0	1	0	0	0	10929	1522	53	5	801	5	OR11H12	14	19378392	Missense_Mutation	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09		19378392	87971148	40	10214											
OR4L1	122742	genome.wustl.edu	37	chr14	20528450	20528451	+	Frame_Shift_Ins	INS	-	-	C													cacaacacccaagatgatcaINStagatttgctcactgaccac					rs75613488|rs33965693|rs112425920|rs112192573	byFrequency	TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr14:20528450_20528451insC	ENST00000315683.1	+	1	247_248	c.247_248insC	c.(247-249)atafs	p.I83fs		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I83fs*10(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAAGATGATCATAGATTTGCTC	0.47																																																	1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)						ENSG00000176246																																			OR4L1	SO:0001589	frameshift_variant	0				HGNC		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	Exception_encountered	14.37:g.20528450_20528451insC	ENSP00000319217:p.Ile83fs	Somatic	0	82	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q6IEZ5	Frame_Shift_Ins	INS	31	3.12	1	15	6.25	1	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I83fs	ENST00000315683.1	37	c.247_248	CCDS32029.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.47	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	protein_coding	OTTHUMT00000404381.1	-				20528451	1	no_errors	ENST00000315683	ensembl	human	known	74_37	frame_shift_ins	INS	0.063:0.001	C	C	20528451	-	C	20528450	7	5	135	1	0	1	1	0	0	0	0	0	11076	217	8	0	249	0	OR4L1	14	20528450	Frame_Shift_Ins	INS	-	TCGA-FX-A2QS-01A-11D-A21Q-09	1150058	20528450	86821090	41	10215											
CPNE6	9362	genome.wustl.edu	37	chr14	24543259	24543259	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccctccacctccatccccaGattgtgtcacaaaccaaggt	5	17	1	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr14:24543259G>T	ENST00000397016.2	+	5	659		c.e5-1		CPNE6_ENST00000560092.1_Splice_Site|CPNE6_ENST00000216775.2_Splice_Site|CPNE6_ENST00000537691.1_Splice_Site	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)						lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TCCATCCCCAGATTGTGTCAC	0.517																																																	0								ENSG00000100884						126	102	110					14																	24543259		2203	4300	6503	CPNE6	SO:0001630	splice_region_variant	0			-	HGNC	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.349-1G>T	14.37:g.24543259G>T		Somatic	0	36	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	92	8.91	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Splice_Site	SNP	42	0	0	116	13.43	18	-	e5-1	ENST00000397016.2	37	c.514-1	CCDS9607.1	14	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323840	0.41096	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9361	0.70957	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPNE6	23613099	1.000000	0.71417	0.989000	0.46669	0.400000	0.30750	8.086000	0.89520	2.394000	0.81467	0.467000	0.42956	.	-	-		0.517	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	protein_coding	OTTHUMT00000071869.5	G		-	Intron	24543259	1	no_errors	ENST00000537691	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	24543259	G	T	24543259	5	4	135	1	0	0	0	0	0	0	1	0	3818	956	33	3	358	3	CPNE6	14	24543259	Splice_Site	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	4014809	24543259	82806281	42	10216											
UNC13C	440279	genome.wustl.edu	37	chr15	54306133	54306133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccaaattctaatagatAaaatgggtttttcagatgca	7	5	2	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr15:54306133A>G	ENST00000260323.11	+	1	1033	c.1033A>G	c.(1033-1035)Aaa>Gaa	p.K345E	UNC13C_ENST00000537900.1_Missense_Mutation_p.K345E|UNC13C_ENST00000545554.1_Missense_Mutation_p.K345E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	345					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTAATAGATAAAATGGGTTT	0.388																																																	0								ENSG00000137766						68	68	68					15																	54306133		1838	4083	5921	UNC13C	SO:0001583	missense	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1033A>G	15.37:g.54306133A>G	ENSP00000260323:p.Lys345Glu	Somatic	0	75	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	39	0	0	36	20.00	9	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K345E	ENST00000260323.11	37	c.1033	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422298	0.62622	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81996	-1.56;-1.56;-1.56	4.93	4.93	0.64822	.	.	.	.	.	D	0.83608	0.5291	N	0.17082	0.46	0.49687	D	0.999811	D	0.69078	0.997	D	0.75020	0.985	D	0.86332	0.1699	9	0.72032	D	0.01	.	13.7769	0.63059	1.0:0.0:0.0:0.0	.	345	Q8NB66	UN13C_HUMAN	E	345	ENSP00000260323:K345E;ENSP00000438156:K345E;ENSP00000442569:K345E	ENSP00000260323:K345E	K	+	1	0	UNC13C	52093425	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.261000	0.95576	1.838000	0.53458	0.533000	0.62120	AAA	-	NULL		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	A	NM_173166	-		54306133	1	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54306133	A	G	54306133	3	3	135	1	0	0	0	0	1	0	0	0	16993	363	13	5	1035	5	UNC13C	15	54306133	Missense_Mutation	SNP	A	TCGA-FX-A2QS-01A-11D-A21Q-09		54306133	48225259	43	10217											
DIS3L	115752	genome.wustl.edu	37	chr15	66599178	66599178	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacagtataacaaactgCgaaacctgctgaaggatgcg	10	9	0	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr15:66599178C>T	ENST00000319212.4	+	3	360	c.310C>T	c.(310-312)Cga>Tga	p.R104*	DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319194.5_Nonsense_Mutation_p.R21*	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	104					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACAAACTGCGAAACCTGCT	0.448																																																	0								ENSG00000166938						142	116	124					15																	66599178		2201	4299	6500	DIS3L	SO:0001587	stop_gained	0			-	HGNC		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.310C>T	15.37:g.66599178C>T	ENSP00000321711:p.Arg104*	Somatic	0	54	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	Q8N1N8|Q8WTU9|Q96CM7	Nonsense_Mutation	SNP	32	0	0	45	27.42	17	NULL	p.R104*	ENST00000319212.4	37	c.310	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	C	41	8.728938	0.98931	.	.	ENSG00000166938	ENST00000319194;ENST00000525134;ENST00000319212;ENST00000532580;ENST00000530615	.	.	.	5.76	5.76	0.90799	.	0.795993	0.11819	N	0.526413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6829	12.3003	0.54870	0.0:0.9234:0.0:0.0766	.	.	.	.	X	21;21;104;21;21	.	ENSP00000321583:R21X	R	+	1	2	DIS3L	64386232	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.149000	0.42244	2.726000	0.93360	0.655000	0.94253	CGA	-	NULL		0.448	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	protein_coding	OTTHUMT00000382792.2	C	NM_133375	-		66599178	1	no_errors	ENST00000319212	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	66599178	C	T	66599178	4	4	135	1	0	0	0	0	0	1	0	0	4538	760	27	1	320	1	DIS3L	15	66599178	Nonsense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	12293045	66599178	35932214	44	10218											
METRN	79006	genome.wustl.edu	37	chr16	766992	766992	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatgcaccagcgacttcGgtgagtgtccccgccatggg	13	15	0	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr16:766992G>A	ENST00000568223.2	+	3	740	c.565G>A	c.(565-567)Gta>Ata	p.V189I	METRN_ENST00000568415.1_Splice_Site_p.V56I	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	189					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				CAGCGACTTCGGTGAGTGTCC	0.662																																																	0								ENSG00000103260						32	36	35					16																	766992		2192	4298	6490	METRN	SO:0001630	splice_region_variant	0			-	HGNC	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"chromosome 16 open reading frame 23"	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.565+1G>A	16.37:g.766992G>A		Somatic	0	66	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	111	27.45	Q9UJH9	Missense_Mutation	SNP	23	4.17	1	60	15.49	11	NULL	p.V189I	ENST00000568223.2	37	c.565	CCDS10422.1	16	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847303	0.32606	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.15	2.12	0.27331	.	0.000000	0.64402	D	0.000001	T	0.47322	0.1439	M	0.81802	2.56	0.51482	D	0.999921	D	0.56287	0.975	B	0.40009	0.316	T	0.47861	-0.9084	9	0.66056	D	0.02	-12.1545	4.1242	0.10119	0.2129:0.1957:0.5915:0.0	.	189	Q9UJH8	METRN_HUMAN	I	189	.	ENSP00000219542:V189I	V	+	1	0	METRN	706993	1.000000	0.71417	0.999000	0.59377	0.655000	0.38815	4.817000	0.62650	0.383000	0.24910	0.558000	0.71614	GTA	-	NULL		0.662	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRN	protein_coding	OTTHUMT00000109074.4	G	NM_024042	-	Missense_Mutation	766992	1	no_errors	ENST00000568223	ensembl	human	known	74_37	missense	SNP	1.000	A	A	766992	G	A	766992	5	1	135	1	0	0	0	0	0	0	1	0	9490	1130	39	1	575	1	METRN	16	766992	Splice_Site	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09		766992	89587761	45	10219											
CLDN6	9074	genome.wustl.edu	37	chr16	3065590	3065590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggttatagaagtcccGgatgatggcatgcgccgtcc	15	10	0	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr16:3065590G>A	ENST00000396925.1	-	3	861	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	CLDN6_ENST00000328796.4_Missense_Mutation_p.R145W|CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	145					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TAGAAGTCCCGGATGATGGCA	0.627																																																	0								ENSG00000184697						22	24	23					16																	3065590		2196	4297	6493	CLDN6	SO:0001583	missense	0			-	HGNC	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.433C>T	16.37:g.3065590G>A	ENSP00000380131:p.Arg145Trp	Somatic	0	29	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	B3KQP9|D3DUA5	Missense_Mutation	SNP	18	0	0	52	27.78	20	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.R145W	ENST00000396925.1	37	c.433	CCDS10488.1	16	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622358	0.28889	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.89270	-2.49;-2.49	4.76	3.73	0.42828	.	0.602915	0.15819	N	0.243097	D	0.89588	0.6758	M	0.89968	3.075	0.34931	D	0.749378	B	0.32071	0.355	B	0.25506	0.061	D	0.93213	0.6602	10	0.72032	D	0.01	.	12.1796	0.54204	0.0:0.0:0.8289:0.1711	.	145	P56747	CLD6_HUMAN	W	145	ENSP00000380131:R145W;ENSP00000328674:R145W	ENSP00000328674:R145W	R	-	1	2	CLDN6	3005591	1.000000	0.71417	0.996000	0.52242	0.139000	0.21198	4.874000	0.63064	2.638000	0.89438	0.655000	0.94253	CGG	-	pfam_PMP22/EMP/MP20/Claudin		0.627	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	protein_coding	OTTHUMT00000250988.1	G	NM_021195	-		3065590	-1	no_errors	ENST00000328796	ensembl	human	known	74_37	missense	SNP	0.988	A	A	3065590	G	A	3065590	3	1	135	1	0	0	0	0	1	0	0	0	3491	1115	39	1	233	1	CLDN6	16	3065590	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	2298598	3065590	87289163	46	10220											
KIF2B	84643	genome.wustl.edu	37	chr17	51901724	51901724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataatgcatggcaagtttTccctcgttgatttagctggg	12	7	0	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr17:51901724T>C	ENST00000268919.4	+	1	1486	c.1330T>C	c.(1330-1332)Tcc>Ccc	p.S444P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	444	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						TGGCAAGTTTTCCCTCGTTGA	0.507																																																	0								ENSG00000141200						63	56	58					17																	51901724		2203	4300	6503	KIF2B	SO:0001583	missense	0			-	HGNC	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.1330T>C	17.37:g.51901724T>C	ENSP00000268919:p.Ser444Pro	Somatic	0	35	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	Q96MA2|Q9BXG6	Missense_Mutation	SNP	34	0	0	36	35.71	20	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S444P	ENST00000268919.4	37	c.1330	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771006	0.69992	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76709	-1.04	5.73	5.73	0.89815	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.44097	D	0.000496	D	0.92280	0.7551	H	0.97440	4.005	0.58432	D	0.99999	D	0.76494	0.999	D	0.79784	0.993	D	0.94786	0.7958	10	0.87932	D	0	.	15.5002	0.75691	0.0:0.0:0.0:1.0	.	444	Q8N4N8	KIF2B_HUMAN	P	444;332	ENSP00000268919:S444P	ENSP00000268919:S444P	S	+	1	0	KIF2B	49256723	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	6.146000	0.71777	2.302000	0.77476	0.533000	0.62120	TCC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	T	NM_032559	-		51901724	1	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	SNP	1.000	C	C	51901724	T	C	51901724	3	2	135	1	0	0	0	0	1	0	0	0	8300	1783	62	5	1332	5	KIF2B	17	51901724	Missense_Mutation	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09		51901724	29293486	47	10221											
MPO	4353	genome.wustl.edu	37	chr17	56355490	56355490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttggttcttgatgcggGggtcattgggcgggatctga	18	7	3	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr17:56355490G>A	ENST00000225275.3	-	7	1078	c.902C>T	c.(901-903)cCc>cTc	p.P301L	MPO_ENST00000340482.3_Missense_Mutation_p.P333L|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	301					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CTTGATGCGGGGGTCATTGGG	0.627																																																	0								ENSG00000005381						75	72	73					17																	56355490		2203	4300	6503	MPO	SO:0001583	missense	0			-	HGNC		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.902C>T	17.37:g.56355490G>A	ENSP00000225275:p.Pro301Leu	Somatic	0	21	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	21	0	0	80	11.11	10	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P333L	ENST00000225275.3	37	c.998	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455361	0.84209	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71817	-0.6;-0.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86977	0.6063	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	-30.5659	18.0012	0.89198	0.0:0.0:1.0:0.0	.	301	P05164	PERM_HUMAN	L	333;301	ENSP00000344419:P333L;ENSP00000225275:P301L	ENSP00000225275:P301L	P	-	2	0	MPO	53710489	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.362000	0.66098	2.518000	0.84900	0.561000	0.74099	CCC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	protein_coding	OTTHUMT00000443971.1	G		-		56355490	-1	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56355490	G	A	56355490	3	1	135	1	0	0	0	0	1	0	0	0	9734	1232	43	2	1359	2	MPO	17	56355490	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	4453766	56355490	24839720	48	10222											
LGALS3BP	3959	genome.wustl.edu	37	chr17	76968782	76968783	+	Frame_Shift_Ins	INS	-	-	GTAC													tcaatccttcgggagtagaaINSgtacctggggagaaagaagg							TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr17:76968782_76968783insGTAC	ENST00000262776.3	-	6	941_942	c.633_634insGTAC	c.(631-636)tacttcfs	p.F212fs	LGALS3BP_ENST00000591778.1_Frame_Shift_Ins_p.-127fs	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	212	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGGGAGTAGAAGTACCTGGGGA	0.604																																					GBM(89;1105 1755 18102 21513)												0								ENSG00000108679																																			LGALS3BP	SO:0001589	frameshift_variant	0				HGNC	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"BTB/POZ domain containing", "Endogenous ligands"	6564	protein-coding gene	gene with protein product	"L3 antigen", "Mac-2-binding protein", "serum protein 90K", "transport and golgi organization 10 homolog B (Drosophila)"	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.630_633dupGTAC	17.37:g.76968783_76968786dupGTAC	ENSP00000262776:p.Phe212fs	Somatic	0	21	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Frame_Shift_Ins	INS	27	0	0	28	33.33	14	pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR	p.F211fs	ENST00000262776.3	37	c.634_633	CCDS11759.1	17																																																																																			-	superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like		0.604	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	protein_coding	OTTHUMT00000437785.3	-	NM_005567			76968783	-1	no_errors	ENST00000262776	ensembl	human	known	74_37	frame_shift_ins	INS	0.997:1.000	GTAC	GTAC	76968783	-	GTAC	76968782	7	5	135	1	0	1	1	0	0	0	0	0	8746	72	3	0	1127	0	LGALS3BP	17	76968782	Frame_Shift_Ins	INS	-	TCGA-FX-A2QS-01A-11D-A21Q-09	20613292	76968782	4226428	49	10223											
MYO5B	4645	genome.wustl.edu	37	chr18	47500968	47500968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcggcagaagttgctTaggtatacatcctggggctg	14	8	0	1	rs548182150		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr18:47500968T>C	ENST00000285039.7	-	10	1373	c.1074A>G	c.(1072-1074)ctA>ctG	p.L358L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	358	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)		AGAAGTTGCTTAGGTATACAT	0.592																																																	0								ENSG00000167306						118	116	116					18																	47500968		2074	4218	6292	MYO5B	SO:0001819	synonymous_variant	0			-	HGNC	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.1074A>G	18.37:g.47500968T>C		Somatic	0	31	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	21	0	0	33	35.29	18	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L358	ENST00000285039.7	37	c.1074	CCDS42436.1	18																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.592	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	T		-		47500968	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	silent	SNP	0.011	C	C	47500968	T	C	47500968	2	2	135	1	0	0	0	0	0	0	0	1	10081	1741	61	5		5	MYO5B	18	47500968	Silent	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09		47500968	30576280	50	10224											
VPS4B	9525	genome.wustl.edu	37	chr18	61070983	61070983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggcagtatcacagcctcTttcagtgcttctttggctcc	8	12	4	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr18:61070983T>C	ENST00000238497.5	-	5	644	c.441A>G	c.(439-441)aaA>aaG	p.K147K	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	147					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCACAGCCTCTTTCAGTGCTT	0.343																																																	0								ENSG00000119541						80	75	77					18																	61070983		2203	4300	6503	VPS4B	SO:0001819	synonymous_variant	0			-	HGNC	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.441A>G	18.37:g.61070983T>C		Somatic	0	58	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	Q69HW4|Q9GZS7	Silent	SNP	31	0	0	68	18.07	15	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.K147	ENST00000238497.5	37	c.441	CCDS11983.1	18																																																																																			-	superfamily_P-loop_NTPase		0.343	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	protein_coding	OTTHUMT00000256198.2	T	NM_004869	-		61070983	-1	no_errors	ENST00000238497	ensembl	human	known	74_37	silent	SNP	1.000	C	C	61070983	T	C	61070983	2	2	135	1	0	0	0	0	0	0	0	1	17220	1606	56	5		5	VPS4B	18	61070983	Silent	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09	13570015	61070983	17006265	51	10225											
MUC16	94025	genome.wustl.edu	37	chr19	9048510	9048510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgaccagagaggtcaccaCtcctggtacctcaggtgaaa	11	11	2	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:9048510C>A	ENST00000397910.4	-	5	33324	c.33121G>T	c.(33121-33123)Gtg>Ttg	p.V11041L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11043	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						GAGGTCACCACTCCTGGTACC	0.488																																																	0								ENSG00000181143						104	94	97					19																	9048510		1935	4153	6088	MUC16	SO:0001583	missense	0			-	HGNC	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.33121G>T	19.37:g.9048510C>A	ENSP00000381008:p.Val11041Leu	Somatic	0	101	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	36	0	0	37	39.34	24	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.V11041L	ENST00000397910.4	37	c.33121	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	5.685	0.310992	0.10733	.	.	ENSG00000181143	ENST00000397910	T	0.02498	4.27	2.47	-1.29	0.09288	.	.	.	.	.	T	0.02610	0.0079	L	0.41236	1.265	.	.	.	B	0.27594	0.182	B	0.16722	0.016	T	0.31223	-0.9951	8	0.87932	D	0	.	6.0073	0.19553	0.0:0.4738:0.0:0.5262	.	11041	B5ME49	.	L	11041	ENSP00000381008:V11041L	ENSP00000381008:V11041L	V	-	1	0	MUC16	8909510	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.702000	0.00196	-0.399000	0.07668	-0.348000	0.07805	GTG	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9048510	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9048510	C	A	9048510	3	1	135	1	0	0	0	0	1	0	0	0	9975	565	20	3	10722	3	MUC16	19	9048510	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09		9048510	50080473	52	10226											
SLC44A2	57153	genome.wustl.edu	37	chr19	10747106	10747106	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccctgctgggcctgcagatCttcaatgccttcatgttctt	9	13	4	1			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:10747106C>G	ENST00000335757.5	+	15	1717	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	SLC44A2_ENST00000407327.4_Missense_Mutation_p.I445M|SLC44A2_ENST00000586078.1_Missense_Mutation_p.I447M			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	447					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCCTGCAGATCTTCAATGCCT	0.637																																																	0								ENSG00000129353						88	89	89					19																	10747106		2203	4300	6503	SLC44A2	SO:0001583	missense	0			-	HGNC	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1341C>G	19.37:g.10747106C>G	ENSP00000336888:p.Ile447Met	Somatic	0	76	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	169	9.63	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	32	0	0	97	11.01	12	pfam_Choline_transptr-like	p.I447M	ENST00000335757.5	37	c.1341	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197097	0.58126	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.24908	1.83;1.83	5.8	3.57	0.40892	.	0.143626	0.64402	D	0.000007	T	0.26846	0.0657	L	0.46947	1.48	0.45747	D	0.998641	B;B;B	0.30211	0.128;0.273;0.128	B;B;B	0.37943	0.197;0.261;0.197	T	0.10753	-1.0616	10	0.54805	T	0.06	-32.0212	10.4668	0.44614	0.0:0.7914:0.1343:0.0743	.	447;447;445	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	M	445;447;447	ENSP00000385135:I445M;ENSP00000336888:I447M	ENSP00000336888:I447M	I	+	3	3	SLC44A2	10608106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.257000	0.51500	1.466000	0.48025	0.655000	0.94253	ATC	-	pfam_Choline_transptr-like		0.637	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	protein_coding	OTTHUMT00000452045.1	C		-		10747106	1	no_errors	ENST00000335757	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10747106	C	G	10747106	3	3	135	1	0	0	0	0	1	0	0	0	14644	903	32	4	1434	4	SLC44A2	19	10747106	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	1698596	10747106	48381877	53	10227											
FCHO1	23149	genome.wustl.edu	37	chr19	17881328	17881328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgagaactacctgaaccGttgcatggaccaggagcggc	13	13	0	2			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:17881328G>A	ENST00000596536.1	+	8	714	c.431G>A	c.(430-432)cGt>cAt	p.R144H	FCHO1_ENST00000596951.1_Missense_Mutation_p.R144H|FCHO1_ENST00000595033.1_Missense_Mutation_p.R94H|FCHO1_ENST00000539407.1_Missense_Mutation_p.R144H|FCHO1_ENST00000597512.1_Missense_Mutation_p.R151H|FCHO1_ENST00000600676.1_Missense_Mutation_p.R144H|FCHO1_ENST00000389133.4_Missense_Mutation_p.R144H|FCHO1_ENST00000252771.7_Missense_Mutation_p.R144H|FCHO1_ENST00000594202.1_Missense_Mutation_p.R144H	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	144	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TACCTGAACCGTTGCATGGAC	0.627																																																	0								ENSG00000130475						52	51	51					19																	17881328		2203	4300	6503	FCHO1	SO:0001583	missense	0			-	HGNC	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.431G>A	19.37:g.17881328G>A	ENSP00000470731:p.Arg144His	Somatic	0	35	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	30	3.23	1	37	31.48	17	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.R144H	ENST00000596536.1	37	c.431	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863663	0.71949	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.45668	0.89;0.89;0.89	4.56	2.45	0.29901	.	0.253934	0.32473	N	0.006056	T	0.51991	0.1707	L	0.52905	1.665	0.35670	D	0.813269	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70935	0.971;0.91;0.97	T	0.59166	-0.7505	10	0.59425	D	0.04	-9.6494	6.2523	0.20852	0.2243:0.0:0.7757:0.0	.	94;144;144	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	H	144	ENSP00000252771:R144H;ENSP00000373785:R144H;ENSP00000437978:R144H	ENSP00000252771:R144H	R	+	2	0	FCHO1	17742328	0.991000	0.36638	0.927000	0.36925	0.996000	0.88848	3.154000	0.50693	0.556000	0.29098	0.491000	0.48974	CGT	-	NULL		0.627	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	protein_coding	OTTHUMT00000466946.2	G	NM_015122	-		17881328	1	no_errors	ENST00000252771	ensembl	human	known	74_37	missense	SNP	0.913	A	A	17881328	G	A	17881328	3	1	135	1	0	0	0	0	1	0	0	0	5789	1145	40	1	449	1	FCHO1	19	17881328	Missense_Mutation	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	7134222	17881328	41247655	54	10228											
RYR1	6261	genome.wustl.edu	37	chr19	39075732	39075732	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtcatcctgttggccatCatccagggtcagtgctggga	12	11	3	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:39075732C>T	ENST00000359596.3	+	102	14796	c.14796C>T	c.(14794-14796)atC>atT	p.I4932I	RYR1_ENST00000360985.3_Silent_p.I4927I|RYR1_ENST00000355481.4_Silent_p.I4927I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4932					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)	TGTTGGCCATCATCCAGGGTC	0.597																																																	0								ENSG00000196218						179	124	143					19																	39075732		2203	4300	6503	RYR1	SO:0001819	synonymous_variant	0			-	HGNC	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.14796C>T	19.37:g.39075732C>T		Somatic	0	40	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	92	23.33	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	22	0	0	66	25.00	22	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.I4932	ENST00000359596.3	37	c.14796	CCDS33011.1	19																																																																																			-	pfam_Ion_trans_dom		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		39075732	1	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39075732	C	T	39075732	2	4	135	1	0	0	0	0	0	0	0	1	13776	816	29	2		2	RYR1	19	39075732	Silent	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	21194404	39075732	20053251	55	10229											
CEACAM3	1084	genome.wustl.edu	37	chr19	42301548	42301548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaacttctggaacccgcCcaccactgccaagctcacta	5	17	3	0			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:42301548C>T	ENST00000357396.3	+	2	333	c.92C>T	c.(91-93)cCc>cTc	p.P31L	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.P31L|CEACAM3_ENST00000344550.4_Missense_Mutation_p.P31L	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	31						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TGGAACCCGCCCACCACTGCC	0.532																																																	0								ENSG00000170956						125	123	124					19																	42301548		2203	4300	6503	CEACAM3	SO:0001583	missense	0			-	HGNC	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.92C>T	19.37:g.42301548C>T	ENSP00000349971:p.Pro31Leu	Somatic	0	155	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	62	20.51	G5E978|Q3KPH9	Missense_Mutation	SNP	39	0	0	68	9.33	7	pfam_Ig_V-set	p.P31L	ENST00000357396.3	37	c.92	CCDS12586.2	19	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344894	0.41498	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.01272	5.07;5.09;5.09	3.44	-0.639	0.11497	.	.	.	.	.	T	0.03959	0.0111	M	0.73598	2.24	0.09310	N	1	P;P	0.46064	0.839;0.872	P;P	0.54270	0.747;0.679	T	0.32851	-0.9891	9	0.54805	T	0.06	.	3.6488	0.08195	0.0:0.5338:0.2075:0.2588	.	31;31	G5E978;P40198	.;CEAM3_HUMAN	L	31	ENSP00000349971:P31L;ENSP00000221999:P31L;ENSP00000341725:P31L	ENSP00000221999:P31L	P	+	2	0	CEACAM3	46993388	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.060000	0.11712	0.095000	0.17434	0.514000	0.50259	CCC	-	NULL		0.532	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	protein_coding	OTTHUMT00000316509.2	C	NM_001815	-		42301548	1	no_errors	ENST00000357396	ensembl	human	known	74_37	missense	SNP	0.000	T	T	42301548	C	T	42301548	3	4	135	1	0	0	0	0	1	0	0	0	3195	623	22	2	98	2	CEACAM3	19	42301548	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	3225816	42301548	16827435	56	10230											
LILRB5	10990	genome.wustl.edu	37	chr19	54756803	54756803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaacagcagcaggaCgaaggccactgagaccccag	15	11	0	1	rs146369950		TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:54756803C>T	ENST00000316219.5	-	9	1509	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	LILRB5_ENST00000449561.2_Missense_Mutation_p.V469I|LILRB5_ENST00000450632.1_Missense_Mutation_p.V460I|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.V369I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	468					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCAGCAGGACGAAGGCCACT	0.592																																																	0								ENSG00000105609	C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	183	124	144		1405,1105,1402	-5.2	0	19	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	469/592,369/492,468/591	54756803	2,13004	2203	4300	6503	LILRB5	SO:0001583	missense	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1402G>A	19.37:g.54756803C>T	ENSP00000320390:p.Val468Ile	Somatic	0	56	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	66	18.52	Q8N760	Missense_Mutation	SNP	17	0	0	54	26.03	19	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V460I	ENST00000316219.5	37	c.1378	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.195908	0.00299	0.0	2.33E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00469	7.29;7.21;7.26;7.28	2.59	-5.19	0.02832	.	13.484300	0.00447	N	0.000086	T	0.00178	0.0005	N	0.00980	-1.08	0.09310	N	1	B;B;B;B	0.16396	0.007;0.017;0.013;0.012	B;B;B;B	0.15052	0.001;0.012;0.005;0.002	T	0.45086	-0.9285	10	0.13470	T	0.59	.	8.7076	0.34365	0.1383:0.6979:0.0:0.1639	.	460;369;469;468	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	I	468;460;469;369	ENSP00000320390:V468I;ENSP00000414225:V460I;ENSP00000406478:V469I;ENSP00000263430:V369I	ENSP00000320390:V468I	V	-	1	0	LILRB5	59448615	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-1.681000	0.01937	-2.362000	0.00609	-1.288000	0.01363	GTC	-	NULL		0.592	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	C		rs146369950		54756803	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	SNP	0.000	T	T	54756803	C	T	54756803	3	4	135	1	0	0	0	0	1	0	0	0	8796	536	19	1	390	1	LILRB5	19	54756803	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09	12455255	54756803	4372180	57	10231											
LILRB5	10990	genome.wustl.edu	37	chr19	54760201	54760201	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaagagtgggttctgcataGaatcctagcagagaaggagg	14	5	1	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr19:54760201G>A	ENST00000316219.5	-	4	467	c.360C>T	c.(358-360)ttC>ttT	p.F120F	LILRB5_ENST00000449561.2_Silent_p.F120F|LILRB5_ENST00000450632.1_Intron|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	120	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTTCTGCATAGAATCCTAGCA	0.572																																																	0								ENSG00000105609						59	63	61					19																	54760201		2203	4300	6503	LILRB5	SO:0001819	synonymous_variant	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.360C>T	19.37:g.54760201G>A		Somatic	0	50	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	45	35.71	Q8N760	Silent	SNP	35	0	0	44	29.03	18	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F120	ENST00000316219.5	37	c.360	CCDS12885.1	19																																																																																			-	NULL		0.572	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	G		-		54760201	-1	no_errors	ENST00000449561	ensembl	human	known	74_37	silent	SNP	0.000	A	A	54760201	G	A	54760201	2	1	135	1	0	0	0	0	0	0	0	1	8796	933	33	2		2	LILRB5	19	54760201	Silent	SNP	G	TCGA-FX-A2QS-01A-11D-A21Q-09	3398	54760201	4368782	58	10232											
DSCAM	1826	genome.wustl.edu	37	chr21	41719729	41719729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatccctgtgatcctcaCattttttccagggttgagga	10	9	1	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr21:41719729C>T	ENST00000400454.1	-	6	1555	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	360	Ig-like C2-type 4.				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)				GTGATCCTCACATTTTTTCCA	0.512																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						299	267	277					21																	41719729		1934	4150	6084	DSCAM	SO:0001583	missense	0			-	HGNC	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.1078G>A	21.37:g.41719729C>T	ENSP00000383303:p.Val360Met	Somatic	0	96	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	O60468	Missense_Mutation	SNP	32	0	0	27	32.50	13	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V360M	ENST00000400454.1	37	c.1078	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505306	0.85282	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69175	-0.38;-0.38	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.067040	0.64402	D	0.000012	T	0.80732	0.4679	M	0.79693	2.465	0.58432	D	0.999994	D	0.58268	0.982	P	0.60012	0.867	T	0.80402	-0.1397	10	0.34782	T	0.22	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	360	O60469	DSCAM_HUMAN	M	360;112	ENSP00000383303:V360M;ENSP00000385342:V112M	ENSP00000383303:V360M	V	-	1	0	DSCAM	40641599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.718000	0.84743	2.344000	0.79699	0.655000	0.94253	GTG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41719729	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41719729	C	T	41719729	3	4	135	1	0	0	0	0	1	0	0	0	4770	478	17	2	5072	2	DSCAM	21	41719729	Missense_Mutation	SNP	C	TCGA-FX-A2QS-01A-11D-A21Q-09		41719729	6410166	59	10233											
UMODL1	89766	genome.wustl.edu	37	chr21	43557666	43557666	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtgcgctaccagagaaTgaatgggagatacaacttta	11	7	0	3			TCGA-FX-A2QS-01A-11D-A21Q-09	TCGA-FX-A2QS-11A-11D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d332cb1-ba25-47e4-8bf8-d25e14f40d59	5b25b7db-9b62-46da-bb84-314e9186da96	g.chr21:43557666T>A	ENST00000408910.2	+	22	3893	c.3893T>A	c.(3892-3894)aTg>aAg	p.M1298K	UMODL1_ENST00000408989.2_Missense_Mutation_p.M1426K|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.M1354K|UMODL1_ENST00000400424.2_Missense_Mutation_p.M1226K	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1298					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCAGAGAATGAATGGGAGA	0.547																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0								ENSG00000177398						141	144	143					21																	43557666		2051	4184	6235	UMODL1	SO:0001583	missense	0			-	HGNC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3893T>A	21.37:g.43557666T>A	ENSP00000386147:p.Met1298Lys	Somatic	0	75	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	21	47.50	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	21	0	0	14	50.00	14	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.M1426K	ENST00000408910.2	37	c.4277	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.798167	0.00617	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.70282	-0.47;-0.46;-0.47;-0.47	3.03	-0.791	0.10929	.	0.531653	0.15827	N	0.242708	T	0.48892	0.1525	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.001	T	0.20438	-1.0275	9	.	.	.	-10.4711	3.2762	0.06899	0.231:0.3466:0.0:0.4224	.	1426;1298	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	K	1354;1226;1426;1298	ENSP00000383279:M1354K;ENSP00000383276:M1226K;ENSP00000386126:M1426K;ENSP00000386147:M1298K	.	M	+	2	0	UMODL1	42430735	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.052000	0.11865	-0.150000	0.11195	-0.411000	0.06167	ATG	-	NULL		0.547	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	protein_coding	OTTHUMT00000195292.2	T		-		43557666	1	no_errors	ENST00000408989	ensembl	human	known	74_37	missense	SNP	0.000	A	A	43557666	T	A	43557666	3	1	135	1	0	0	0	0	1	0	0	0	16987	1464	51	5	4359	5	UMODL1	21	43557666	Missense_Mutation	SNP	T	TCGA-FX-A2QS-01A-11D-A21Q-09	1837937	43557666	4572229	60	10234											
INTS3	65123	genome.wustl.edu	37	chr1	153734135	153734135	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagttctgcagctcacCctccccacctgtggaaggta	9	15	2	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr1:153734135C>G	ENST00000318967.2	+	14	2067	c.1499C>G	c.(1498-1500)cCc>cGc	p.P500R	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.P500R|INTS3_ENST00000456435.1_Missense_Mutation_p.P294R|INTS3_ENST00000512605.1_Missense_Mutation_p.P294R	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	501					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCAGCTCACCCTCCCCACCT	0.552																																																	0								ENSG00000143624						89	77	81					1																	153734135		2203	4300	6503	INTS3	SO:0001583	missense	0			-	HGNC	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1499C>G	1.37:g.153734135C>G	ENSP00000318641:p.Pro500Arg	Somatic	0	35	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	31	0	0	26	35.00	14	pfam_Int_cplx_su3	p.P500R	ENST00000318967.2	37	c.1499	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771037	0.69992	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.0	4.09	0.47781	.	0.060591	0.64402	D	0.000002	T	0.47377	0.1442	L	0.43152	1.355	0.58432	D	0.999999	P;P;P	0.45176	0.852;0.769;0.693	P;B;B	0.50896	0.653;0.248;0.431	T	0.54384	-0.8302	9	0.72032	D	0.01	.	11.1907	0.48683	0.0:0.9106:0.0:0.0894	.	294;501;500	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	R	500;294;500;294	.	ENSP00000318641:P500R	P	+	2	0	INTS3	152000759	1.000000	0.71417	0.838000	0.33150	0.989000	0.77384	5.438000	0.66550	1.347000	0.45714	0.455000	0.32223	CCC	-	NULL		0.552	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	protein_coding	OTTHUMT00000090045.2	C	NM_023015	-		153734135	1	no_errors	ENST00000318967	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153734135	C	G	153734135	3	3	136	1	0	0	0	0	1	0	0	0	7781	623	22	4	1553	4	INTS3	1	153734135	Missense_Mutation	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09		153734135	95516486	1	10235											
RGS2	5997	genome.wustl.edu	37	chr1	192778205	192778205	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgggagaacgataatgCaaagtgctatgttcttggct	12	8	1	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr1:192778205C>T	ENST00000235382.5	+	1	35	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	2					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.Q2*(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						AACGATAATGCAAAGTGCTAT	0.612																																					Pancreas(71;51 2183 4981)												1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000116741						133	121	125					1																	192778205		2203	4300	6503	RGS2	SO:0001587	stop_gained	0			-	HGNC	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.4C>T	1.37:g.192778205C>T	ENSP00000235382:p.Gln2*	Somatic	0	60	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	Q6I9U5	Nonsense_Mutation	SNP	22	0	0	30	18.92	7	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.Q2*	ENST00000235382.5	37	c.4	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350249	0.82132	.	.	ENSG00000116741	ENST00000235382	.	.	.	4.62	3.71	0.42584	.	0.110419	0.40222	N	0.001143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.632	0.45543	0.0:0.9057:0.0:0.0943	.	.	.	.	X	2	.	ENSP00000235382:Q2X	Q	+	1	0	RGS2	191044828	1.000000	0.71417	0.995000	0.50966	0.321000	0.28281	3.207000	0.51106	1.305000	0.44909	0.591000	0.81541	CAA	-	NULL		0.612	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	protein_coding	OTTHUMT00000086396.1	C	NM_002923	-		192778205	1	no_errors	ENST00000235382	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	192778205	C	T	192778205	4	4	136	1	0	0	0	0	0	1	0	0	13310	711	25	2	6	2	RGS2	1	192778205	Nonsense_Mutation	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09	39044070	192778205	56472416	2	10236											
GNPAT	8443	genome.wustl.edu	37	chr1	231411035	231411035	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacagtacttggctgcagtCagaaaattcacaagtcagct	9	9	3	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr1:231411035C>T	ENST00000366647.4	+	13	1981	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V	GNPAT_ENST00000366646.3_Silent_p.V543V|GNPAT_ENST00000469332.1_3'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	604					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGGCTGCAGTCAGAAAATTCA	0.423																																																	0								ENSG00000116906						113	106	109					1																	231411035		2203	4300	6503	GNPAT	SO:0001819	synonymous_variant	0			-	HGNC	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1812C>T	1.37:g.231411035C>T		Somatic	0	70	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	46	44.58	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	38	0	0	32	43.86	25	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.V604	ENST00000366647.4	37	c.1812	CCDS1592.1	1																																																																																			-	NULL		0.423	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	protein_coding	OTTHUMT00000092871.1	C		-		231411035	1	no_errors	ENST00000366647	ensembl	human	known	74_37	silent	SNP	0.782	T	T	231411035	C	T	231411035	2	4	136	1	0	0	0	0	0	0	0	1	6543	813	29	2		2	GNPAT	1	231411035	Silent	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09	38632830	231411035	17839586	3	10237											
PLD5	200150	genome.wustl.edu	37	chr1	242253161	242253161	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtttcttcatcatgttataCgttccggggatcctttccgc	8	11	3	0	rs376520582		TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr1:242253161C>G	ENST00000536534.2	-	10	1847	c.1606G>C	c.(1606-1608)Gta>Cta	p.V536L	PLD5_ENST00000442594.2_Missense_Mutation_p.V444L|PLD5_ENST00000427495.1_Missense_Mutation_p.V474L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	536						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCATGTTATACGTTCCGGGGA	0.418																																																	0								ENSG00000180287						202	198	200					1																	242253161		2203	4300	6503	PLD5	SO:0001583	missense	0			-	HGNC	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1606G>C	1.37:g.242253161C>G	ENSP00000440896:p.Val536Leu	Somatic	0	141	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	65	51.85	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	37	0	0	30	47.37	27	smart_PLipase_D/transphosphatidylase	p.V536L	ENST00000536534.2	37	c.1606	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	C	3.421	-0.118222	0.06838	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.42900	0.99;0.98;0.96	5.34	4.41	0.53225	.	0.571972	0.14426	N	0.320341	T	0.29458	0.0734	N	0.16478	0.41	0.09310	N	1	B;B;B	0.15930	0.015;0.002;0.015	B;B;B	0.16289	0.015;0.007;0.015	T	0.22452	-1.0216	10	0.54805	T	0.06	.	12.2641	0.54668	0.0:0.9195:0.0:0.0805	.	444;536;474	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	474;444;536	ENSP00000401285:V474L;ENSP00000414188:V444L;ENSP00000440896:V536L	ENSP00000401285:V474L	V	-	1	0	PLD5	240319784	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	1.377000	0.34317	1.227000	0.43598	0.655000	0.94253	GTA	-	NULL		0.418	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	protein_coding	OTTHUMT00000397213.2	C	NM_152666	-		242253161	-1	no_errors	ENST00000536534	ensembl	human	known	74_37	missense	SNP	0.013	G	G	242253161	C	G	242253161	3	3	136	1	0	0	0	0	1	0	0	0	12051	536	19	4	8	4	PLD5	1	242253161	Missense_Mutation	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09	10842126	242253161	6997460	4	10238											
DOCK10	55619	genome.wustl.edu	37	chr2	225738817	225738817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctttttcttcaaatgGtttgatcacagactcaggtt	9	8	4	2			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr2:225738817G>T	ENST00000258390.7	-	11	1220	c.1153C>A	c.(1153-1155)Cca>Aca	p.P385T	DOCK10_ENST00000409592.3_Missense_Mutation_p.P379T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	385					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)		TCTTCAAATGGTTTGATCACA	0.353																																																	0								ENSG00000135905						115	98	103					2																	225738817		1821	4083	5904	DOCK10	SO:0001583	missense	0			-	HGNC	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.1153C>A	2.37:g.225738817G>T	ENSP00000258390:p.Pro385Thr	Somatic	0	57	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	30	0	0	61	0.00	0	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P385T	ENST00000258390.7	37	c.1153	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874799	0.91664	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.46819	0.86;0.86	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.87971	2.92	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.991	T	0.78109	-0.2332	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	385;385;379	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	T	379;385	ENSP00000386694:P379T;ENSP00000258390:P385T	ENSP00000258390:P385T	P	-	1	0	DOCK10	225447061	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.093000	0.94163	2.882000	0.98803	0.655000	0.94253	CCA	-	NULL		0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G		-		225738817	-1	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	SNP	1.000	T	T	225738817	G	T	225738817	3	4	136	1	0	0	0	0	1	0	0	0	4687	1261	44	3	5591	3	DOCK10	2	225738817	Missense_Mutation	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		225738817	17460556	5	10239											
GC	2638	genome.wustl.edu	37	chr4	72620173	72620173	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaataatctgcacatAgttcttgtcccttgtcaatg	6	9	4	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr4:72620173A>C	ENST00000273951.8	-	10	1560	c.1217T>G	c.(1216-1218)cTa>cGa	p.L406R	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.L425R|GC_ENST00000513476.1_Missense_Mutation_p.L406R	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	406	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	ATCTGCACATAGTTCTTGTCC	0.308																																																	0								ENSG00000145321						77	76	76					4																	72620173		2203	4299	6502	GC	SO:0001583	missense	0			-	HGNC	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1217T>G	4.37:g.72620173A>C	ENSP00000273951:p.Leu406Arg	Somatic	0	82	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	41	42.25	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	46	0	0	29	44.23	23	pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB	p.L406R	ENST00000273951.8	37	c.1217	CCDS3550.1	4	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343517	0.61073	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.33438	1.41;1.41;1.41	5.35	5.35	0.76521	.	0.572095	0.17283	N	0.179905	T	0.51839	0.1698	M	0.61703	1.905	0.39867	D	0.97345	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.55159	-0.8184	10	0.87932	D	0	.	12.0044	0.53251	1.0:0.0:0.0:0.0	.	425;406	D6RAK8;D6RF35	.;.	R	406;425;406	ENSP00000273951:L406R;ENSP00000421725:L425R;ENSP00000426683:L406R	ENSP00000273951:L406R	L	-	2	0	GC	72839037	0.832000	0.29368	0.906000	0.35671	0.759000	0.43091	4.517000	0.60503	2.135000	0.66039	0.533000	0.62120	CTA	-	pfam_VitD-bind_III,superfamily_Serum_albumin-like,prints_VitD-bd		0.308	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GC	protein_coding	OTTHUMT00000252167.2	A		-		72620173	-1	no_errors	ENST00000273951	ensembl	human	known	74_37	missense	SNP	0.950	C	C	72620173	A	C	72620173	3	2	136	1	0	0	0	0	1	0	0	0	6284	420	15	5	219	5	GC	4	72620173	Missense_Mutation	SNP	A	TCGA-FX-A3NJ-01A-11D-A21Q-09		72620173	118534103	6	10240											
NSD1	64324	genome.wustl.edu	37	chr5	176673790	176673790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcaaaagagattccagGctcagaggtattactcagtt	9	9	3	2			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr5:176673790G>T	ENST00000439151.2	+	10	4535	c.4490G>T	c.(4489-4491)gGc>gTc	p.G1497V	NSD1_ENST00000361032.4_Missense_Mutation_p.G1394V|NSD1_ENST00000354179.4_Missense_Mutation_p.G1228V|NSD1_ENST00000347982.4_Missense_Mutation_p.G1228V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1497					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		GAGATTCCAGGCTCAGAGGTA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0								ENSG00000165671						87	86	86					5																	176673790		2203	4300	6503	NSD1	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	-	HGNC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4490G>T	5.37:g.176673790G>T	ENSP00000395929:p.Gly1497Val	Somatic	0	48	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q96PD8|Q96RN7	Missense_Mutation	SNP	41	0	0	55	0.00	0	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.G1497V	ENST00000439151.2	37	c.4490	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	5.416	0.261858	0.10239	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.65	0.217	0.15264	.	1.026790	0.07678	N	0.936610	D	0.86422	0.5929	N	0.08118	0	0.09310	N	1	B;B;B	0.20988	0.047;0.05;0.012	B;B;B	0.21917	0.023;0.037;0.006	T	0.74765	-0.3554	10	0.30854	T	0.27	.	8.9721	0.35912	0.4551:0.0:0.5449:0.0	.	1228;1394;1497	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	V	1228;1497;1228;1394	ENSP00000346111:G1228V;ENSP00000395929:G1497V;ENSP00000343209:G1228V;ENSP00000354310:G1394V	ENSP00000343209:G1228V	G	+	2	0	NSD1	176606396	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.178000	0.16820	0.142000	0.18901	0.650000	0.86243	GGC	-	NULL		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	G	NM_172349	-		176673790	1	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	SNP	0.000	T	T	176673790	G	T	176673790	3	4	136	1	0	0	0	0	1	0	0	0	10671	1203	42	3	4524	3	NSD1	5	176673790	Missense_Mutation	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		176673790	4241470	7	10241											
BCLAF1	9774	genome.wustl.edu	37	chr6	136599100	136599100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttggagcattctgtgGtgcgattgtctttgcaggac	12	8	3	0			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr6:136599100G>A	ENST00000531224.1	-	4	1171	c.919C>T	c.(919-921)Cca>Tca	p.P307S	BCLAF1_ENST00000392348.2_Missense_Mutation_p.P305S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P307S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P307S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P305S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P305S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	307					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCATTCTGTGGTGCGATTGTC	0.453																																					Colon(142;1534 1789 5427 7063 28491)												0								ENSG00000029363						85	80	81					6																	136599100		2203	4300	6503	BCLAF1	SO:0001583	missense	0			-	HGNC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.919C>T	6.37:g.136599100G>A	ENSP00000435210:p.Pro307Ser	Somatic	0	255	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	196	17.65	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	55	0	0	53	32.05	25	NULL	p.P307S	ENST00000531224.1	37	c.919	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205289	0.22205	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.82	4.95	0.65309	.	0.216399	0.34628	N	0.003818	T	0.02970	0.0088	L	0.34521	1.04	0.80722	D	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	0.35968	-0.9767	10	0.37606	T	0.19	-9.6741	4.057	0.09821	0.158:0.0:0.6237:0.2183	.	305;305;307;307	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	S	307;305;307;307;305;305;307	ENSP00000435210:P307S;ENSP00000229446:P305S;ENSP00000435441:P307S;ENSP00000436501:P307S;ENSP00000434826:P305S;ENSP00000376159:P305S;ENSP00000431734:P307S	ENSP00000229446:P305S	P	-	1	0	BCLAF1	136640793	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.833000	0.39161	2.754000	0.94517	0.650000	0.86243	CCA	-	NULL		0.453	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	protein_coding	OTTHUMT00000042375.2	G	NM_014739	-		136599100	-1	no_errors	ENST00000531224	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136599100	G	A	136599100	3	1	136	1	0	0	0	0	1	0	0	0	1383	1261	44	2	1883	2	BCLAF1	6	136599100	Missense_Mutation	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		136599100	34515967	8	10242											
PLOD3	8985	genome.wustl.edu	37	chr7	100854936	100854936	+	Frame_Shift_Del	DEL	G	G	-													gtagtactcatcggggctcaGggcgccccagaagttggacc							TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr7:100854936delG	ENST00000223127.3	-	12	1692	c.1294delC	c.(1294-1296)ctgfs	p.L432fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	432					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCGGGGCTCAGGGCGCCCCAG	0.697																																																	0								ENSG00000106397						28	26	27					7																	100854936		2202	4300	6502	PLOD3	SO:0001589	frameshift_variant	0				HGNC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1294delC	7.37:g.100854936delG	ENSP00000223127:p.Leu432fs	Somatic	0	118	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	55	39.56	B2R6W6|Q540C3	Frame_Shift_Del	DEL	20	0	0	22	0.00	0	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L432fs	ENST00000223127.3	37	c.1294	CCDS5715.1	7																																																																																			-	NULL		0.697	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	protein_coding	OTTHUMT00000347470.1	G				100854936	-1	no_errors	ENST00000223127	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	100854936	G	-	100854936	7	5	136	1	0	1	0	1	0	0	0	0	12105	991	35	0	954	0	PLOD3	7	100854936	Frame_Shift_Del	DEL	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		100854936	58283727	9	10243											
PHF19	26147	genome.wustl.edu	37	chr9	123632017	123632017	+	Intron	DEL	A	A	-													gctatctgtctccaaagcccAggtgtggcccttctgcttgg							TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr9:123632017delA	ENST00000373896.3	-	5	718				PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000312189.6_Frame_Shift_Del_p.W191fs|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19						chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						tccaaagcccaggtgtggccc	0.577																																																	0								ENSG00000119403						42	33	36					9																	123632017		2193	4295	6488	PHF19	SO:0001627	intron_variant	0				HGNC	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.465+105T>-	9.37:g.123632017delA		Somatic	0	28	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Frame_Shift_Del	DEL	24	0	0	47	0.00	0	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.W191fs	ENST00000373896.3	37	c.571	CCDS35116.1	9																																																																																			-	NULL		0.577	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	protein_coding	OTTHUMT00000053838.3	A	XM_045308			123632017	-1	no_errors	ENST00000312189	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	123632017	A	-	123632017	6	5	136	0	1	1	0	1	0	0	0	0	11831	188	7	0		0	PHF19	9	123632017	Intron	DEL	A	TCGA-FX-A3NJ-01A-11D-A21Q-09		123632017	17581414	10	10244											
ANK3	288	genome.wustl.edu	37	chr10	61833769	61833769	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttatgttcaaacagacctgcCagttctttggaaggatcccg	9	10	2	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr10:61833769C>G	ENST00000280772.2	-	37	7061	c.6870G>C	c.(6868-6870)ctG>ctC	p.L2290L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2290					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)			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						ACAGACCTGCCAGTTCTTTGG	0.498																																																	0								ENSG00000151150						121	119	120					10																	61833769		2203	4300	6503	ANK3	SO:0001819	synonymous_variant	0			-	HGNC	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.6870G>C	10.37:g.61833769C>G		Somatic	0	76	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	32	0	0	28	24.32	9	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L2290	ENST00000280772.2	37	c.6870	CCDS7258.1	10																																																																																			-	NULL		0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	C	NM_020987	-		61833769	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	SNP	1.000	G	G	61833769	C	G	61833769	2	3	136	1	0	0	0	0	0	0	0	1	622	581	21	4		4	ANK3	10	61833769	Silent	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09		61833769	73700978	11	10245											
ACADSB	36	genome.wustl.edu	37	chr10	124800090	124800090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcatctgtggctgtcTtttgtgagatccagaacaca	10	8	2	3			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr10:124800090T>G	ENST00000358776.4	+	4	426	c.412T>G	c.(412-414)Ttt>Gtt	p.F138V	ACADSB_ENST00000368869.4_Missense_Mutation_p.F36V|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	138					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TGTGGCTGTCTTTTGTGAGAT	0.403																																																	0								ENSG00000196177						134	133	133					10																	124800090		2203	4300	6503	ACADSB	SO:0001583	missense	0			-	HGNC	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.412T>G	10.37:g.124800090T>G	ENSP00000357873:p.Phe138Val	Somatic	0	102	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	12	77.78	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	34	0	0	8	75.76	25	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.F138V	ENST00000358776.4	37	c.412	CCDS7634.1	10	.	.	.	.	.	.	.	.	.	.	T	0.048	-1.259425	0.01445	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99671	-6.35;-6.35	5.68	-11.4	0.00090	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	1.090830	0.07085	N	0.837655	D	0.95130	0.8422	N	0.04655	-0.195	0.09310	N	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.80162	-0.1497	10	0.24483	T	0.36	.	1.0526	0.01583	0.2999:0.3111:0.2153:0.1736	.	138	P45954	ACDSB_HUMAN	V	36;138	ENSP00000357862:F36V;ENSP00000357873:F138V	ENSP00000357873:F138V	F	+	1	0	ACADSB	124790080	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.203000	0.01234	-6.524000	0.00003	-2.025000	0.00428	TTT	-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom		0.403	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	protein_coding	OTTHUMT00000050843.1	T	NM_001609	-		124800090	1	no_errors	ENST00000358776	ensembl	human	known	74_37	missense	SNP	0.000	G	G	124800090	T	G	124800090	3	3	136	1	0	0	0	0	1	0	0	0	115	1609	56	5	426	5	ACADSB	10	124800090	Missense_Mutation	SNP	T	TCGA-FX-A3NJ-01A-11D-A21Q-09	62966321	124800090	10734657	12	10246											
TAF6L	10629	genome.wustl.edu	37	chr11	62543260	62543260	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctccactggggccatgtCagagcgagaagagcggcggt	16	11	1	3			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr11:62543260C>T	ENST00000294168.3	+	2	206	c.5C>T	c.(4-6)tCa>tTa	p.S2L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	2					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGGGCCATGTCAGAGCGAGAA	0.642																																																	0								ENSG00000162227						55	60	58					11																	62543260		2201	4299	6500	TAF6L	SO:0001583	missense	0			-	HGNC	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.5C>T	11.37:g.62543260C>T	ENSP00000294168:p.Ser2Leu	Somatic	0	44	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B2RAT0|Q96HA6	Missense_Mutation	SNP	38	0	0	17	51.43	18	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.S2L	ENST00000294168.3	37	c.5	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074962	0.55646	.	.	ENSG00000162227	ENST00000294168;ENST00000526261;ENST00000529509	T;T	0.50813	0.73;0.82	4.53	4.53	0.55603	.	0.268410	0.30285	N	0.009971	T	0.32852	0.0843	N	0.14661	0.345	0.80722	D	1	B;B	0.24186	0.035;0.099	B;B	0.19391	0.012;0.025	T	0.24657	-1.0154	10	0.72032	D	0.01	-31.1238	15.1558	0.72739	0.0:1.0:0.0:0.0	.	2;2	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	L	2	ENSP00000294168:S2L;ENSP00000434662:S2L	ENSP00000294168:S2L	S	+	2	0	TAF6L	62299836	1.000000	0.71417	0.948000	0.38648	0.722000	0.41435	4.711000	0.61881	2.517000	0.84864	0.561000	0.74099	TCA	-	NULL		0.642	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	protein_coding	OTTHUMT00000395352.1	C	NM_006473	-		62543260	1	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	SNP	0.970	T	T	62543260	C	T	62543260	3	4	136	1	0	0	0	0	1	0	0	0	15538	838	29	2	7	2	TAF6L	11	62543260	Missense_Mutation	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09		62543260	72463256	13	10247											
RTN3	10313	genome.wustl.edu	37	chr11	63486877	63486877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccactgagaaataaagaGgcaggacgttacccaatgtc	9	9	0	2			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr11:63486877G>T	ENST00000377819.5	+	3	1057	c.903G>T	c.(901-903)gaG>gaT	p.E301D	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E189D|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.E282D|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	301					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GAAATAAAGAGGCAGGACGTT	0.433																																																	0								ENSG00000133318						85	86	86					11																	63486877		2201	4298	6499	RTN3	SO:0001583	missense	0			-	HGNC	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.903G>T	11.37:g.63486877G>T	ENSP00000367050:p.Glu301Asp	Somatic	0	42	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	43	0	0	65	0.00	0	pfam_Reticulon,pfscan_Reticulon	p.E301D	ENST00000377819.5	37	c.903	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885458	0.72410	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.18657	2.2;2.2;2.2	5.98	4.03	0.46877	.	0.000000	0.47455	D	0.000225	T	0.30039	0.0752	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.77557	0.99;0.978;0.99	T	0.03945	-1.0990	10	0.56958	D	0.05	-21.829	6.9178	0.24369	0.0916:0.0:0.7374:0.171	.	189;301;282	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	D	301;282;189	ENSP00000367050:E301D;ENSP00000344106:E282D;ENSP00000442733:E189D	ENSP00000344106:E282D	E	+	3	2	RTN3	63243453	0.941000	0.31946	1.000000	0.80357	0.993000	0.82548	0.825000	0.27393	1.496000	0.48567	0.591000	0.81541	GAG	-	NULL		0.433	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	protein_coding	OTTHUMT00000397846.1	G	NM_006054	-		63486877	1	no_errors	ENST00000377819	ensembl	human	known	74_37	missense	SNP	0.998	T	T	63486877	G	T	63486877	3	4	136	1	0	0	0	0	1	0	0	0	13735	991	35	3	913	3	RTN3	11	63486877	Missense_Mutation	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09	943617	63486877	71519639	14	10248											
SLC6A12	6539	genome.wustl.edu	37	chr12	306031	306031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagccttggggaaggcgaTgaaggccagcccaggacctg	15	12	0	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr12:306031T>C	ENST00000428720.1	-	11	1836	c.1093A>G	c.(1093-1095)Atc>Gtc	p.I365V	RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.I365V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.I365V|SLC6A12_ENST00000424061.2_Missense_Mutation_p.I365V|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000359674.4_Missense_Mutation_p.I365V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	365					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGGAAGGCGATGAAGGCCAGC	0.582																																																	0								ENSG00000111181						95	86	89					12																	306031		2203	4300	6503	SLC6A12	SO:0001583	missense	0			-	HGNC	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1093A>G	12.37:g.306031T>C	ENSP00000388184:p.Ile365Val	Somatic	0	48	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	22	0	0	28	9.68	3	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.I365V	ENST00000428720.1	37	c.1093	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936360	0.52972	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	4.26	4.26	0.50523	.	0.061973	0.64402	D	0.000011	D	0.83101	0.5181	M	0.66506	2.035	0.47905	D	0.999546	D	0.76494	0.999	D	0.77557	0.99	T	0.82224	-0.0563	10	0.33940	T	0.23	.	13.5481	0.61715	0.0:0.0:0.0:1.0	.	365	P48065	S6A12_HUMAN	V	365	ENSP00000352702:I365V;ENSP00000380464:I365V;ENSP00000388184:I365V;ENSP00000399136:I365V;ENSP00000444268:I365V	ENSP00000352702:I365V	I	-	1	0	SLC6A12	176292	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.511000	0.35801	1.782000	0.52362	0.391000	0.25812	ATC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	protein_coding	OTTHUMT00000206671.2	T	NM_003044	-		306031	-1	no_errors	ENST00000359674	ensembl	human	known	74_37	missense	SNP	1.000	C	C	306031	T	C	306031	3	2	136	1	0	0	0	0	1	0	0	0	14683	1464	51	5	775	5	SLC6A12	12	306031	Missense_Mutation	SNP	T	TCGA-FX-A3NJ-01A-11D-A21Q-09		306031	133545864	15	10249											
ITGA5	3678	genome.wustl.edu	37	chr12	54798668	54798668	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccccaccaaagggagccccGatggccacatctggaagaca	10	15	1	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr12:54798668G>T	ENST00000293379.4	-	13	1497	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	412					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGGGAGCCCCGATGGCCACAT	0.577											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000161638						13	15	14					12																	54798668		2201	4299	6500	ITGA5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1236C>A	12.37:g.54798668G>T		Somatic	0	22	0	1003	0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q96HA5	Silent	SNP	25	0	0	41	0.00	0	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.I412	ENST00000293379.4	37	c.1236	CCDS8880.1	12																																																																																			-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.577	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	protein_coding	OTTHUMT00000406174.1	G		-		54798668	-1	no_errors	ENST00000293379	ensembl	human	known	74_37	silent	SNP	0.903	T	T	54798668	G	T	54798668	2	4	136	1	0	0	0	0	0	0	0	1	7881	1048	37	3		3	ITGA5	12	54798668	Silent	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09	54492637	54798668	79053227	16	10250											
CRY1	1407	genome.wustl.edu	37	chr12	107395061	107395061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatctacattatcatactttTctttccaaatgcctttccaa	1	11	3	0			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr12:107395061T>A	ENST00000008527.5	-	5	1548	c.681A>T	c.(679-681)agA>agT	p.R227S		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	227					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATCATACTTTTCTTTCCAAAT	0.323																																																	0								ENSG00000008405						92	94	94					12																	107395061		2203	4300	6503	CRY1	SO:0001583	missense	0			-	HGNC	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.681A>T	12.37:g.107395061T>A	ENSP00000008527:p.Arg227Ser	Somatic	0	12	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33		Missense_Mutation	SNP	40	0	0	28	54.84	34	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.R227S	ENST00000008527.5	37	c.681	CCDS9112.1	12	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268011	0.59540	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	5.72	0.89469	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.52126	1.63	0.80722	D	1	B	0.31153	0.31	B	0.35114	0.196	T	0.52480	-0.8570	9	0.37606	T	0.19	-21.0442	10.3536	0.43950	0.0:0.0731:0.0:0.9269	.	227	Q16526	CRY1_HUMAN	S	227	.	ENSP00000008527:R227S	R	-	3	2	CRY1	105919191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.640000	0.46579	2.176000	0.68965	0.455000	0.32223	AGA	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C		0.323	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	protein_coding	OTTHUMT00000406827.1	T	NM_004075	-		107395061	-1	no_errors	ENST00000008527	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107395061	T	A	107395061	3	1	136	1	0	0	0	0	1	0	0	0	3905	1780	62	5	1111	5	CRY1	12	107395061	Missense_Mutation	SNP	T	TCGA-FX-A3NJ-01A-11D-A21Q-09	52596393	107395061	26456834	17	10251											
SERPINA10	51156	genome.wustl.edu	37	chr14	94756550	94756567	+	In_Frame_Del	DEL	CCCTCTCTTGATCTGGGT	CCCTCTCTTGATCTGGGT	-													ttcagggcctgcaagtggagCcctctcttgatctgggtttc							TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	CCCTCTCTTGATCTGGGT	CCCTCTCTTGATCTGGGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr14:94756550_94756567delCCCTCTCTTGATCTGGGT	ENST00000393096.1	-	2	829_846	c.364_381delACCCAGATCAAGAGAGGG	c.(364-381)acccagatcaagagagggdel	p.TQIKRG122del	SERPINA10_ENST00000554173.1_In_Frame_Del_p.TQIKRG122del|SERPINA10_ENST00000261994.4_In_Frame_Del_p.TQIKRG122del|SERPINA10_ENST00000554723.1_In_Frame_Del_p.TQIKRG162del	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	122					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCAAGTGGAGCCCTCTCTTGATCTGGGTTTCAGTCGGC	0.587																																																	0								ENSG00000140093																																			SERPINA10	SO:0001651	inframe_deletion	0				HGNC	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.364_381delACCCAGATCAAGAGAGGG	14.37:g.94756550_94756567delCCCTCTCTTGATCTGGGT	ENSP00000376809:p.Thr122_Gly127del	Somatic					0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A5Z2A5|Q6UWX9|Q86U20	In_Frame_Del	DEL	26	0	0	22	0.00	0	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.TQIKRG122in_frame_del	ENST00000393096.1	37	c.381_364	CCDS9923.1	14																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.587	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	protein_coding	OTTHUMT00000413061.1	CCCTCTCTTGATCTGGGT	NM_016186			94756567	-1	no_errors	ENST00000261994	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.001:0.005:0.000:0.000:0.000:0.000:0.006:0.004:0.020:0.889:0.896:0.983:0.984:0.952:0.432:0.014:0.001	-	-	94756567	CCCTCTCTTGATCTGGGT	-	94756550	7	5	136	1	0	1	0	1	0	0	0	0	14095	726	26	0	969	0	SERPINA10	14	94756550	In_Frame_Del	DEL	CCCTCTCTTGATCTGGGT	TCGA-FX-A3NJ-01A-11D-A21Q-09		94756550	12592990	18	10252											
TMCO7	79613	genome.wustl.edu	37	chr16	68894239	68894239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgtcgttcaagacgtgGtgtgttttgatgctgccccc	13	11	1	2			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr16:68894239G>T	ENST00000261778.1	+	2	559	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	183						integral component of membrane (GO:0016021)											TCAAGACGTGGTGTGTTTTGA	0.502																																																	0								ENSG00000103047						223	211	215					16																	68894239		2024	4206	6230	TANGO6	SO:0001583	missense	0			-	HGNC		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.547G>T	16.37:g.68894239G>T	ENSP00000261778:p.Val183Leu	Somatic	0	90	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	Q569F9|Q9H9K1	Missense_Mutation	SNP	30	0	0	24	0.00	0	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.V183L	ENST00000261778.1	37	c.547	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918525	0.33908	.	.	ENSG00000103047	ENST00000261778	T	0.65549	-0.16	5.01	5.01	0.66863	.	.	.	.	.	T	0.62551	0.2437	L	0.59436	1.845	0.25488	N	0.987679	D;D	0.53312	0.959;0.959	P;P	0.47744	0.556;0.556	T	0.55579	-0.8119	9	0.29301	T	0.29	-7.4953	10.7217	0.46044	0.089:0.0:0.911:0.0	.	183;22	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	L	183	ENSP00000261778:V183L	ENSP00000261778:V183L	V	+	1	0	TMCO7	67451740	1.000000	0.71417	0.072000	0.20136	0.210000	0.24377	3.429000	0.52800	2.327000	0.79052	0.561000	0.74099	GTG	-	NULL		0.502	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2	-		68894239	1	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	SNP	0.525	T	T	68894239	G	T	68894239	3	4	136	1	0	0	0	0	1	0	0	0	16008	1261	44	3	553	3	TMCO7	16	68894239	Missense_Mutation	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		68894239	21460514	19	10253											
DHX58	79132	genome.wustl.edu	37	chr17	40259674	40259674	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacaggatctgggttttagtGacgtgctccctgtgatagaa	12	8	1	3			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr17:40259674G>T	ENST00000251642.3	-	8	1167	c.945C>A	c.(943-945)gtC>gtA	p.V315V		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	315					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGTTTTAGTGACGTGCTCCC	0.637																																																	0								ENSG00000108771						42	40	41					17																	40259674		2203	4300	6503	DHX58	SO:0001819	synonymous_variant	0			-	HGNC	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.945C>A	17.37:g.40259674G>T		Somatic	0	51	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q9HAM6	Silent	SNP	25	0	0	31	0.00	0	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V315	ENST00000251642.3	37	c.945	CCDS11416.1	17																																																																																			-	superfamily_P-loop_NTPase		0.637	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	protein_coding	OTTHUMT00000257396.1	G	NM_024119	-		40259674	-1	no_errors	ENST00000251642	ensembl	human	known	74_37	silent	SNP	0.638	T	T	40259674	G	T	40259674	2	4	136	1	0	0	0	0	0	0	0	1	4516	1277	45	3		3	DHX58	17	40259674	Silent	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		40259674	40935536	20	10254											
C19orf45	374877	genome.wustl.edu	37	chr19	7572028	7572028	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagagatgctacagcggGtaagggaggcggaggggagc	20	6	0	2			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr19:7572028G>T	ENST00000361664.2	+	8	1434		c.e8+1		CTD-2207O23.12_ENST00000599312.1_Splice_Site	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45											endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCTACAGCGGGTAAGGGAGGC	0.522																																																	0								ENSG00000198723						33	37	36					19																	7572028		2203	4300	6503	C19orf45	SO:0001630	splice_region_variant	0			-	HGNC	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1293+1G>T	19.37:g.7572028G>T		Somatic	0	48	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8N115	Splice_Site	SNP	25	0	0	40	2.44	1	-	e7+1	ENST00000361664.2	37	c.1293+1	CCDS12179.2	19	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193531	0.38707	.	.	ENSG00000198723	ENST00000361664	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2942	0.43613	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf45	7478028	1.000000	0.71417	0.960000	0.40013	0.190000	0.23558	3.812000	0.55628	2.143000	0.66587	0.313000	0.20887	.	-	-		0.522	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf45	protein_coding	OTTHUMT00000347808.1	G	NM_198534	-	Intron	7572028	1	no_errors	ENST00000361664	ensembl	human	known	74_37	splice_site	SNP	0.962	T	T	7572028	G	T	7572028	5	4	136	1	0	0	0	0	0	0	1	0	1930	1275	44	3	1320	3	C19orf45	19	7572028	Splice_Site	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		7572028	51556955	21	10255											
IL17RA	23765	genome.wustl.edu	37	chr22	17590484	17590484	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagcggcagtcagtgcagtCtgaccagggctacatctcca	12	13	3	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr22:17590484C>A	ENST00000319363.6	+	13	2508	c.2375C>A	c.(2374-2376)tCt>tAt	p.S792Y		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	792					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCAGTGCAGTCTGACCAGGGC	0.662																																																	0								ENSG00000177663						21	19	19					22																	17590484		2198	4295	6493	IL17RA	SO:0001583	missense	0			-	HGNC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2375C>A	22.37:g.17590484C>A	ENSP00000320936:p.Ser792Tyr	Somatic	0	39	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	O43844|Q20WK1	Missense_Mutation	SNP	32	0	0	21	52.27	23	pfam_SEFIR	p.S792Y	ENST00000319363.6	37	c.2375	CCDS13739.1	22	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524446	0.85600	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.16073	2.37	4.55	4.55	0.56014	.	0.166559	0.41001	D	0.000961	T	0.42086	0.1187	M	0.65498	2.005	0.45205	D	0.99821	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.42155	-0.9468	10	0.87932	D	0	-25.4231	17.6726	0.88222	0.0:1.0:0.0:0.0	.	740;792	D3YTB4;Q96F46	.;I17RA_HUMAN	Y	740;792	ENSP00000320936:S792Y	ENSP00000320936:S792Y	S	+	2	0	IL17RA	15970484	1.000000	0.71417	0.943000	0.38184	0.964000	0.63967	6.591000	0.74090	2.227000	0.72691	0.655000	0.94253	TCT	-	NULL		0.662	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	protein_coding	OTTHUMT00000315820.1	C	NM_014339	-		17590484	1	no_errors	ENST00000319363	ensembl	human	known	74_37	missense	SNP	0.999	A	A	17590484	C	A	17590484	3	1	136	1	0	0	0	0	1	0	0	0	7641	913	32	3	2425	3	IL17RA	22	17590484	Missense_Mutation	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09		17590484	33714082	22	10256											
C22orf29	79680	genome.wustl.edu	37	chr22	19839506	19839506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacccagcagaagtccacCctgtggggtcgggagctggg	17	11	0	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr22:19839506C>T	ENST00000405640.1	-	2	947	c.279G>A	c.(277-279)agG>agA	p.R93R	C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Silent_p.R93R|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.R93R|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	93					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					AGAAGTCCACCCTGTGGGGTC	0.617																																																	0								ENSG00000215012						50	56	54					22																	19839506		2203	4300	6503	C22orf29	SO:0001819	synonymous_variant	0			-	HGNC	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.279G>A	22.37:g.19839506C>T		Somatic	0	33	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	25	0	0	17	62.22	28	NULL	p.R93	ENST00000405640.1	37	c.279	CCDS13769.1	22																																																																																			-	NULL		0.617	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C22orf29	protein_coding	OTTHUMT00000317290.2	C	NM_024627	-		19839506	-1	no_errors	ENST00000328554	ensembl	human	known	74_37	silent	SNP	0.031	T	T	19839506	C	T	19839506	2	4	136	1	0	0	0	0	0	0	0	1	2143	622	22	2		2	C22orf29	22	19839506	Silent	SNP	C	TCGA-FX-A3NJ-01A-11D-A21Q-09	2249022	19839506	31465060	23	10257											
SHANK3	85358	genome.wustl.edu	37	chr22	51121777	51121777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcaacaggagagctgtGctcgtgtcctgctcttccgt	11	15	1	1			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chr22:51121777G>T	ENST00000414786.2	+	8	1122	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SHANK3_ENST00000262795.3_Missense_Mutation_p.A299S|SHANK3_ENST00000445220.2_Missense_Mutation_p.A299S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	299					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGAGAGCTGTGCTCGTGTCCT	0.582																																																	0								ENSG00000251322						57	67	64					22																	51121777		2127	4219	6346	SHANK3	SO:0001583	missense	0			-	HGNC	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.895G>T	22.37:g.51121777G>T	ENSP00000464552:p.Ala299Ser	Somatic	0	33	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	D7UT47|Q8TET3	Missense_Mutation	SNP	26	0	0	46	0.00	0	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A299S	ENST00000414786.2	37	c.895		22	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649779	0.87958	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.67523	-0.27;-0.27	4.8	4.8	0.61643	.	.	.	.	.	T	0.80276	0.4593	M	0.66506	2.035	0.33637	D	0.606755	D	0.89917	1.0	D	0.87578	0.998	D	0.85835	0.1394	9	0.87932	D	0	.	15.4269	0.75059	0.0:0.0:1.0:0.0	.	299	F2Z3L0	.	S	299	ENSP00000442518:A299S;ENSP00000446078:A299S	ENSP00000442518:A299S	A	+	1	0	SHANK3	49468643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.666000	0.91149	2.495000	0.84180	0.645000	0.84053	GCT	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	protein_coding	OTTHUMT00000316674.2	G	NM_001080420	-		51121777	1	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51121777	G	T	51121777	3	4	136	1	0	0	0	0	1	0	0	0	14274	1319	46	3	925	3	SHANK3	22	51121777	Missense_Mutation	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09	31282271	51121777	182789	24	10258											
BCORL1	63035	genome.wustl.edu	37	chrX	129168446	129168446	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcaaaggtcgttggaGccagcagaagacacgatctc	13	11	1	2			TCGA-FX-A3NJ-01A-11D-A21Q-09	TCGA-FX-A3NJ-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408ed640-75f6-4346-bdd0-3b93c51adae5	5925ff29-ab11-4a35-957f-0e6198757944	g.chrX:129168446G>T	ENST00000218147.7	+	9	4502				BCORL1_ENST00000303743.5_Missense_Mutation_p.S1441I|BCORL1_ENST00000540052.1_Intron|BCORL1_ENST00000359304.2_Intron			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						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						GGTCGTTGGAGCCAGCAGAAG	0.572																																																	0								ENSG00000085185																																			BCORL1	SO:0001627	intron_variant	0			-	HGNC	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.4306-2896G>T	X.37:g.129168446G>T		Somatic	0	27	0		0.595084944961889				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	11	0	0	8	0.00	0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1441I	ENST00000218147.7	37	c.4322	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804584	0.50315	.	.	ENSG00000085185	ENST00000303743;ENST00000456822	T;T	0.36340	1.26;1.31	5.6	-1.33	0.09172	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.80722	D	1	B	0.26195	0.144	B	0.27608	0.081	T	0.08006	-1.0743	8	0.22109	T	0.4	.	6.513	0.22232	0.5105:0.2258:0.2637:0.0	.	1441	Q5H9F3-3	.	I	1441;1041	ENSP00000307541:S1441I;ENSP00000399483:S1041I	ENSP00000307541:S1441I	S	+	2	0	BCORL1	128996127	0.996000	0.38824	0.991000	0.47740	0.986000	0.74619	0.603000	0.24149	-0.298000	0.08921	-0.176000	0.13171	AGC	-	NULL		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	G	NM_021946	-		129168446	1	no_errors	ENST00000303743	ensembl	human	known	74_37	missense	SNP	0.875	T	T	129168446	G	T	129168446	1	4	136	0	1	0	0	0	0	0	0	0	1387	971	34	3		3	BCORL1	23	129168446	Intron	SNP	G	TCGA-FX-A3NJ-01A-11D-A21Q-09		129168446	26102114	25	10259											
BAI2	576	genome.wustl.edu	37	chr1	32221699	32221699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccagggcattggacaGggtgtgggcagcaggagggc	21	8	0	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr1:32221699G>T	ENST00000373658.3	-	4	1080	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	BAI2_ENST00000398538.1_Missense_Mutation_p.L235M|BAI2_ENST00000527361.1_Missense_Mutation_p.L247M|BAI2_ENST00000373655.2_Missense_Mutation_p.L247M|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Missense_Mutation_p.L235M|BAI2_ENST00000398556.3_Missense_Mutation_p.L250M|BAI2_ENST00000398547.1_Missense_Mutation_p.L235M|BAI2_ENST00000257070.4_Missense_Mutation_p.L247M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	247					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCATTGGACAGGGTGTGGGCA	0.667																																																	0								ENSG00000121753						46	56	53					1																	32221699		2203	4299	6502	BAI2	SO:0001583	missense	0			-	HGNC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.739C>A	1.37:g.32221699G>T	ENSP00000362762:p.Leu247Met	Somatic	0	19	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L247M	ENST00000373658.3	37	c.739	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709488	0.48517	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.49139	1.43;1.64;0.84;0.84;1.8;0.79;0.79;0.87;1.43;1.3	5.08	3.18	0.36537	.	0.000000	0.32655	N	0.005811	T	0.49712	0.1573	L	0.38175	1.15	0.80722	D	1	B;P;B;B;D;B	0.71674	0.291;0.606;0.003;0.008;0.998;0.002	B;B;B;B;D;B	0.67548	0.087;0.424;0.009;0.021;0.952;0.004	T	0.42464	-0.9450	10	0.30854	T	0.27	.	6.0971	0.20027	0.1726:0.1575:0.6699:0.0	.	235;247;235;235;247;247	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	M	250;235;247;247;235;247;247;235;240;281	ENSP00000381564:L250M;ENSP00000381555:L235M;ENSP00000362762:L247M;ENSP00000362759:L247M;ENSP00000381550:L235M;ENSP00000257070:L247M;ENSP00000435397:L247M;ENSP00000381548:L235M;ENSP00000410921:L240M;ENSP00000437219:L281M	ENSP00000257070:L247M	L	-	1	2	BAI2	31994286	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.646000	0.24797	1.282000	0.44496	0.462000	0.41574	CTG	-	NULL		0.667	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	protein_coding	OTTHUMT00000381838.1	G	NM_001703	-		32221699	-1	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	SNP	0.995	T	T	32221699	G	T	32221699	3	4	137	1	0	0	0	0	1	0	0	0	1299	991	35	3	4138	3	BAI2	1	32221699	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		32221699	217028922	1	10260											
NAV1	89796	genome.wustl.edu	37	chr1	201786318	201786318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaaagctgtaccacctgCccccacccaccgtgggccct	7	19	1	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr1:201786318C>T	ENST00000367296.4	+	29	5863	c.5443C>T	c.(5443-5445)Ccc>Tcc	p.P1815S	IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.P1812S|NAV1_ENST00000367300.3_Missense_Mutation_p.P1755S|NAV1_ENST00000367297.4_Missense_Mutation_p.P1807S|NAV1_ENST00000367302.1_Missense_Mutation_p.P1768S|NAV1_ENST00000367295.1_Missense_Mutation_p.P1421S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1815					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				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						GTACCACCTGCCCCCACCCAC	0.587																																																	0								ENSG00000134369						93	81	85					1																	201786318		2203	4300	6503	NAV1	SO:0001583	missense	0			-	HGNC	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.5443C>T	1.37:g.201786318C>T	ENSP00000356265:p.Pro1815Ser	Somatic	0	35	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	13	51.85	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P1815S	ENST00000367296.4	37	c.5443	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310663	0.81358	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.07021	3.3;3.23;3.23;3.23;3.3;3.25	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.57536	1.79	0.49213	D	0.999769	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00138	-1.2002	10	0.38643	T	0.18	-39.5236	19.1379	0.93435	0.0:1.0:0.0:0.0	.	1421;1812	Q8NEY1-5;Q8NEY1-3	.;.	S	1768;1815;1812;1807;1755;1421	ENSP00000356271:P1768S;ENSP00000356265:P1815S;ENSP00000295624:P1812S;ENSP00000356266:P1807S;ENSP00000356269:P1755S;ENSP00000356264:P1421S	ENSP00000295624:P1812S	P	+	1	0	NAV1	200052941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.815000	0.69215	2.618000	0.88619	0.650000	0.86243	CCC	-	NULL		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	C	NM_020443	-		201786318	1	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201786318	C	T	201786318	3	4	137	1	0	0	0	0	1	0	0	0	10185	739	26	2	5614	2	NAV1	1	201786318	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	169564619	201786318	47464303	2	10261											
NRXN1	9378	genome.wustl.edu	37	chr2	50779907	50779907	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttggcatctttctgaTgtcttggcttgccatggcta	12	9	3	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr2:50779907T>G	ENST00000406316.2	-	9	3053	c.1577A>C	c.(1576-1578)cAt>cCt	p.H526P	NRXN1_ENST00000406859.3_Missense_Mutation_p.H526P|NRXN1_ENST00000401669.2_Missense_Mutation_p.H526P|NRXN1_ENST00000402717.3_Missense_Mutation_p.H518P|NRXN1_ENST00000404971.1_Missense_Mutation_p.H566P|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.H518P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	526	Laminin G-like 3. {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)			ATCTTTCTGATGTCTTGGCTT	0.458																																																	0								ENSG00000179915						160	150	153					2																	50779907		1925	4118	6043	NRXN1	SO:0001583	missense	0			-	HGNC	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.1577A>C	2.37:g.50779907T>G	ENSP00000384311:p.His526Pro	Somatic	0	61	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.H518P	ENST00000406316.2	37	c.1553	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722109	0.48728	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.93	5.93	0.95920	.	0.050311	0.85682	D	0.000000	T	0.52338	0.1728	N	0.16743	0.435	0.41900	D	0.990413	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.09377	0.003;0.001;0.004	T	0.46707	-0.9172	10	0.30078	T	0.28	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	566;526;518	Q9ULB1-3;F8WB18;A7E294	.;.;.	P	566;526;518;526;567;518;526	ENSP00000385142:H566P;ENSP00000384311:H526P;ENSP00000434015:H518P;ENSP00000385017:H526P;ENSP00000385434:H518P;ENSP00000385681:H526P	ENSP00000385017:H526P	H	-	2	0	NRXN1	50633411	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.040000	0.89188	2.270000	0.75569	0.482000	0.46254	CAT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	T		-		50779907	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	SNP	1.000	G	G	50779907	T	G	50779907	3	3	137	1	0	0	0	0	1	0	0	0	10667	1464	51	5	3269	5	NRXN1	2	50779907	Missense_Mutation	SNP	T	TCGA-FX-A3NK-01A-11D-A21Q-09		50779907	192419466	3	10262											
CLASP1	23332	genome.wustl.edu	37	chr2	122287836	122287836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcacctgtgccgatctgCgccttgaaccgatcctgcag	10	15	2	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr2:122287836C>T	ENST00000263710.4	-	3	650	c.261G>A	c.(259-261)gcG>gcA	p.A87A	RNU4ATAC_ENST00000580972.1_RNA|CLASP1_ENST00000541377.1_Silent_p.A87A|CLASP1_ENST00000455322.2_Silent_p.A87A|CLASP1_ENST00000397587.3_Silent_p.A87A|RP11-204L24.2_ENST00000577914.1_RNA|CLASP1_ENST00000409078.3_Silent_p.A87A	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	87					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGCCGATCTGCGCCTTGAACC	0.682																																																	0								ENSG00000074054						14	21	19					2																	122287836		1941	4013	5954	CLASP1	SO:0001819	synonymous_variant	0			-	HGNC	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.261G>A	2.37:g.122287836C>T		Somatic	0	86	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	51	38.55	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP							pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A87	ENST00000263710.4	37	c.261		2																																																																																			-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.682	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	protein_coding		C	NM_015282	-		122287836	-1	no_errors	ENST00000263710	ensembl	human	known	74_37	silent	SNP	0.908	T	T	122287836	C	T	122287836	2	4	137	1	0	0	0	0	0	0	0	1	3456	755	27	1		1	CLASP1	2	122287836	Silent	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	71507929	122287836	120911537	4	10263											
CD96	10225	genome.wustl.edu	37	chr3	111368640	111368640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgccttatcatgagaTggagaccctctagtctcgtg	10	10	4	3			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr3:111368640T>C	ENST00000283285.5	+	15	1876	c.1745T>C	c.(1744-1746)aTg>aCg	p.M582T	CD96_ENST00000352690.4_Missense_Mutation_p.M566T	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	582					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TATCATGAGATGGAGACCCTC	0.468									Opitz Trigonocephaly syndrome																																								0								ENSG00000153283						138	124	129					3																	111368640		2203	4300	6503	CD96	SO:0001583	missense	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	-	HGNC	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1745T>C	3.37:g.111368640T>C	ENSP00000283285:p.Met582Thr	Somatic	0	58	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q5JPB3	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.M582T	ENST00000283285.5	37	c.1745	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569346	0.45798	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.71817	-0.6;-0.6	5.68	5.68	0.88126	.	0.175879	0.40554	N	0.001061	T	0.67429	0.2892	N	0.24115	0.695	0.80722	D	1	P;D;P	0.55385	0.952;0.971;0.952	P;P;P	0.52957	0.521;0.714;0.521	T	0.72104	-0.4391	10	0.87932	D	0	-11.7621	12.3155	0.54953	0.0:0.0:0.0:1.0	.	565;566;582	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	T	566;582	ENSP00000342040:M566T;ENSP00000283285:M582T	ENSP00000283285:M582T	M	+	2	0	CD96	112851330	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.270000	0.58896	2.167000	0.68274	0.460000	0.39030	ATG	-	NULL		0.468	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	protein_coding	OTTHUMT00000354312.2	T		-		111368640	1	no_errors	ENST00000283285	ensembl	human	known	74_37	missense	SNP	1.000	C	C	111368640	T	C	111368640	3	2	137	1	0	0	0	0	1	0	0	0	3050	1464	51	5	1803	5	CD96	3	111368640	Missense_Mutation	SNP	T	TCGA-FX-A3NK-01A-11D-A21Q-09		111368640	86653790	5	10264											
ADD1	118	genome.wustl.edu	37	chr4	2930211	2930211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaagttccgtaccccGtcctttctgaagaagagcaa	9	10	1	5			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:2930211G>A	ENST00000398129.1	+	14	2195	c.2175G>A	c.(2173-2175)ccG>ccA	p.P725P	ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Silent_p.P756P|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000446856.1_Silent_p.P725P			P35611	ADDA_HUMAN	adducin 1 (alpha)	725	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCGTACCCCGTCCTTTCTGA	0.627																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0								ENSG00000087274						62	76	71					4																	2930211		2203	4300	6503	ADD1	SO:0001819	synonymous_variant	0			-	HGNC	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2175G>A	4.37:g.2930211G>A		Somatic	0	29	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	21	47.50	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP							pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.P756	ENST00000398129.1	37	c.2268	CCDS43205.1	4																																																																																			-	NULL		0.627	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	protein_coding	OTTHUMT00000242840.1	G	NM_014189	-		2930211	1	no_errors	ENST00000264758	ensembl	human	known	74_37	silent	SNP	0.886	A	A	2930211	G	A	2930211	2	1	137	1	0	0	0	0	0	0	0	1	304	1132	40	1		1	ADD1	4	2930211	Silent	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		2930211	188224065	6	10265											
CORIN	10699	genome.wustl.edu	37	chr4	47625659	47625659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagatatgtccactGggttcactctgcagagaaca	9	12	2	2			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:47625659G>A	ENST00000273857.4	-	19	2468	c.2469C>T	c.(2467-2469)ccC>ccT	p.P823P	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Silent_p.P756P|CORIN_ENST00000508498.1_Silent_p.P684P|CORIN_ENST00000505909.1_Silent_p.P786P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	823	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						TATGTCCACTGGGTTCACTCT	0.562																																																	0								ENSG00000145244						109	105	106					4																	47625659		2203	4300	6503	CORIN	SO:0001819	synonymous_variant	0			-	HGNC	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.2469C>T	4.37:g.47625659G>A		Somatic	0	49	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP							pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.P823	ENST00000273857.4	37	c.2469	CCDS3477.1	4																																																																																			-	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.562	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	protein_coding	OTTHUMT00000216906.2	G		-		47625659	-1	no_errors	ENST00000273857	ensembl	human	known	74_37	silent	SNP	0.990	A	A	47625659	G	A	47625659	2	1	137	1	0	0	0	0	0	0	0	1	3754	1335	47	2		2	CORIN	4	47625659	Silent	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09	44695448	47625659	143528617	7	10266											
FAT1	2195	genome.wustl.edu	37	chr4	187524885	187524885	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagctttttgtgtgctatcaGcttgccccctgtgctggaaa	10	10	1	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:187524885G>C	ENST00000441802.2	-	19	11004	c.10795C>G	c.(10795-10797)Ctg>Gtg	p.L3599V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3599	Cadherin 33. {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						TGTGCTATCAGCTTGCCCCCT	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						111	114	113					4																	187524885		2155	4260	6415	FAT1	SO:0001583	missense	0			-	HGNC	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.10795C>G	4.37:g.187524885G>C	ENSP00000406229:p.Leu3599Val	Somatic	0	47	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L3599V	ENST00000441802.2	37	c.10795	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606067	0.28623	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53206	0.63	5.21	4.36	0.52297	Cadherin (3);Cadherin-like (1);	0.074767	0.56097	D	0.000039	T	0.41119	0.1145	L	0.42632	1.34	0.53005	D	0.999967	B	0.25609	0.13	B	0.22152	0.038	T	0.24941	-1.0146	10	0.34782	T	0.22	.	15.2404	0.73465	0.0:0.0:0.8584:0.1416	.	3599	Q14517	FAT1_HUMAN	V	3599;3601	ENSP00000406229:L3599V	ENSP00000260147:L3601V	L	-	1	2	FAT1	187761879	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	1.862000	0.39448	1.415000	0.47037	-0.311000	0.09066	CTG	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187524885	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	C	C	187524885	G	C	187524885	3	2	137	1	0	0	0	0	1	0	0	0	5691	962	34	4	3007	4	FAT1	4	187524885	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09	139899226	187524885	3629391	8	10267											
FAT1	2195	genome.wustl.edu	37	chr4	187630453	187630453	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccccgttggttcctatgtCtgcatccgtggcgctgactc	10	14	1	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr4:187630453C>T	ENST00000441802.2	-	2	738	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	177	Cadherin 2. {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						GTTCCTATGTCTGCATCCGTG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						166	171	169					4																	187630453		2166	4280	6446	FAT1	SO:0001583	missense	0			-	HGNC	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.529G>A	4.37:g.187630453C>T	ENSP00000406229:p.Asp177Asn	Somatic	0	78	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	53	24.29		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D177N	ENST00000441802.2	37	c.529	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728160	0.89390	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.74002	-0.8;-0.8	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93250	0.6634	10	0.66056	D	0.02	.	18.5053	0.90894	0.0:1.0:0.0:0.0	.	177	Q14517	FAT1_HUMAN	N	177	ENSP00000406229:D177N;ENSP00000423736:D177N	ENSP00000260147:D177N	D	-	1	0	FAT1	187867447	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.651000	0.83577	2.704000	0.92352	0.591000	0.81541	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245	-		187630453	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187630453	C	T	187630453	3	4	137	1	0	0	0	0	1	0	0	0	5691	913	32	2	13341	2	FAT1	4	187630453	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	105568	187630453	3523823	9	10268											
SCGN	10590	genome.wustl.edu	37	chr6	25701446	25701446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctcagcccagcatcagCggggtggaccttgataagtt	12	13	2	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr6:25701446C>T	ENST00000377961.2	+	11	882	c.714C>T	c.(712-714)agC>agT	p.S238S	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	238						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCAGCATCAGCGGGGTGGACC	0.512																																																	0								ENSG00000079689						97	84	89					6																	25701446		2203	4300	6503	SCGN	SO:0001819	synonymous_variant	0			-	HGNC	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.714C>T	6.37:g.25701446C>T		Somatic	0	69	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	38	33.33	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.S238	ENST00000377961.2	37	c.714	CCDS4561.1	6																																																																																			-	NULL		0.512	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGN	protein_coding	OTTHUMT00000040067.1	C		-		25701446	1	no_errors	ENST00000377961	ensembl	human	known	74_37	silent	SNP	0.384	T	T	25701446	C	T	25701446	2	4	137	1	0	0	0	0	0	0	0	1	13911	767	27	1		1	SCGN	6	25701446	Silent	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09		25701446	145413621	10	10269											
OR2H1	26716	genome.wustl.edu	37	chr6	29430039	29430039	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccatccaccctccacttgCccttctgtccccaccagcag	4	22	1	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr6:29430039C>G	ENST00000377136.1	+	4	958	c.493C>G	c.(493-495)Ccc>Gcc	p.P165A	OR2H1_ENST00000377133.1_Missense_Mutation_p.P165A|OR2H1_ENST00000442615.1_Missense_Mutation_p.P165A|OR2H1_ENST00000396792.2_Missense_Mutation_p.P165A|OR2H1_ENST00000377132.1_Missense_Mutation_p.P165A|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCTCCACTTGCCCTTCTGTCC	0.532																																																	0								ENSG00000204688						206	217	213					6																	29430039		1509	2709	4218	OR2H1	SO:0001583	missense	0			-	HGNC	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.493C>G	6.37:g.29430039C>G	ENSP00000366340:p.Pro165Ala	Somatic	0	37	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	36	30.77	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P165A	ENST00000377136.1	37	c.493	CCDS4660.1	6	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302029	0.10678	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00179	8.61;8.61;8.61;8.61;8.61	2.81	0.972	0.19704	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001137	T	0.00210	0.0006	M	0.82630	2.6	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44817	-0.9303	10	0.72032	D	0.01	.	3.3951	0.07303	0.0:0.3696:0.2061:0.4243	.	165	Q9GZK4	OR2H1_HUMAN	A	165	ENSP00000366340:P165A;ENSP00000366337:P165A;ENSP00000393254:P165A;ENSP00000366336:P165A;ENSP00000380010:P165A	ENSP00000366336:P165A	P	+	1	0	OR2H1	29538018	0.000000	0.05858	0.275000	0.24674	0.005000	0.04900	-0.802000	0.04545	0.243000	0.21327	-0.199000	0.12753	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H1	protein_coding	OTTHUMT00000194014.3	C		-		29430039	1	no_errors	ENST00000377132	ensembl	human	known	74_37	missense	SNP	0.003	G	G	29430039	C	G	29430039	3	3	137	1	0	0	0	0	1	0	0	0	11003	739	26	4	495	4	OR2H1	6	29430039	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	3728593	29430039	141685028	11	10270											
RMI1	80010	genome.wustl.edu	37	chr9	86617205	86617205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaccagcagttcagataGccattccttaaataataaaa	4	9	1	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr9:86617205G>A	ENST00000325875.3	+	3	1636	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	435					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AGTTCAGATAGCCATTCCtta	0.279																																																	0								ENSG00000178966						31	37	35					9																	86617205		2160	4275	6435	RMI1	SO:0001583	missense	0			-	HGNC	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1304G>A	9.37:g.86617205G>A	ENSP00000317039:p.Ser435Asn	Somatic	0	37	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP							pfam_DUF1767	p.S435N	ENST00000325875.3	37	c.1304	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.931535	0.00488	.	.	ENSG00000178966	ENST00000325875	T	0.30182	1.54	5.42	1.97	0.26223	.	0.919295	0.09173	N	0.838527	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	9	.	.	.	-9.0128	0.5064	0.00588	0.2776:0.1955:0.3422:0.1846	.	435	Q9H9A7	RMI1_HUMAN	N	435	ENSP00000317039:S435N	.	S	+	2	0	RMI1	85807025	0.000000	0.05858	0.014000	0.15608	0.074000	0.17049	-0.417000	0.07088	0.713000	0.32060	0.655000	0.94253	AGC	-	NULL		0.279	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	protein_coding	OTTHUMT00000052870.1	G	NM_024945	-		86617205	1	no_errors	ENST00000325875	ensembl	human	known	74_37	missense	SNP	0.000	A	A	86617205	G	A	86617205	3	1	137	1	0	0	0	0	1	0	0	0	13403	971	34	2	1306	2	RMI1	9	86617205	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		86617205	54596226	12	10271											
SLC31A2	1318	genome.wustl.edu	37	chr9	115923945	115923945	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agacggggactctgcaggctCagattcattccctgttggca	12	11	3	2			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr9:115923945C>G	ENST00000259392.3	+	3	363	c.230C>G	c.(229-231)tCa>tGa	p.S77*		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	77					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	TCTGCAGGCTCAGATTCATTC	0.577																																																	0								ENSG00000136867						87	87	87					9																	115923945		2051	4201	6252	SLC31A2	SO:0001587	stop_gained	0			-	HGNC		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"Solute carriers"	11017	protein-coding gene	gene with protein product	"copper transporter 2"	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.230C>G	9.37:g.115923945C>G	ENSP00000259392:p.Ser77*	Somatic	0	41	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05		Nonsense_Mutation	SNP							pfam_Cop_transporter	p.S77*	ENST00000259392.3	37	c.230	CCDS6788.1	9	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158184	0.38119	.	.	ENSG00000136867	ENST00000259392	.	.	.	5.46	4.56	0.56223	.	0.620613	0.16548	N	0.209632	.	.	.	.	.	.	0.45733	D	0.99863	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-10.5077	10.0597	0.42266	0.0:0.9076:0.0:0.0924	.	.	.	.	X	77	.	ENSP00000259392:S77X	S	+	2	0	SLC31A2	114963766	0.970000	0.33590	0.106000	0.21319	0.021000	0.10359	3.754000	0.55189	1.304000	0.44892	0.655000	0.94253	TCA	-	pfam_Cop_transporter		0.577	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	protein_coding	OTTHUMT00000055509.2	C	NM_001860	-		115923945	1	no_errors	ENST00000259392	ensembl	human	known	74_37	nonsense	SNP	0.274	G	G	115923945	C	G	115923945	4	3	137	1	0	0	0	0	0	1	0	0	14572	838	29	4	240	4	SLC31A2	9	115923945	Nonsense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	29306740	115923945	25289486	13	10272											
C9orf43	257169	genome.wustl.edu	37	chr9	116176117	116176117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccagaatgtacctttaCtaaggcccattctttattgt	5	9	1	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr9:116176117C>T	ENST00000288462.4	+	3	676	c.230C>T	c.(229-231)aCt>aTt	p.T77I	C9orf43_ENST00000490544.1_3'UTR|C9orf43_ENST00000374165.1_Missense_Mutation_p.T77I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	77										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTACCTTTACTAAGGCCCAT	0.398																																																	0								ENSG00000157653						100	92	95					9																	116176117		2203	4300	6503	C9orf43	SO:0001583	missense	0			-	HGNC	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.230C>T	9.37:g.116176117C>T	ENSP00000288462:p.Thr77Ile	Somatic	0	144	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	85	32.54		Missense_Mutation	SNP							NULL	p.T77I	ENST00000288462.4	37	c.230	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346180	0.41599	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.52057	0.68;0.68	5.22	1.09	0.20402	.	0.793410	0.11034	N	0.606925	T	0.35653	0.0939	L	0.29908	0.895	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.19745	-1.0296	10	0.62326	D	0.03	-0.0532	3.5717	0.07920	0.1657:0.424:0.3215:0.0888	.	77	Q8TAL5	CI043_HUMAN	I	77	ENSP00000363280:T77I;ENSP00000288462:T77I	ENSP00000288462:T77I	T	+	2	0	C9orf43	115215938	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.152000	0.10159	0.352000	0.24053	-0.302000	0.09304	ACT	-	NULL		0.398	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	protein_coding	OTTHUMT00000053739.1	C	NM_152786	-		116176117	1	no_errors	ENST00000288462	ensembl	human	known	74_37	missense	SNP	0.000	T	T	116176117	C	T	116176117	3	4	137	1	0	0	0	0	1	0	0	0	2485	565	20	2	236	2	C9orf43	9	116176117	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	252172	116176117	25037314	14	10273											
USH1C	10083	genome.wustl.edu	37	chr11	17554814	17554814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacttactggtggtacattCgcagcacatcatagagatag	9	9	1	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:17554814C>T	ENST00000318024.4	-	2	200	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	USH1C_ENST00000527720.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.R31Q|USH1C_ENST00000005226.7_Missense_Mutation_p.R31Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	31	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTGGTACATTCGCAGCACATC	0.507																																																	0								ENSG00000006611						122	112	115					11																	17554814		2200	4293	6493	USH1C	SO:0001583	missense	0			-	HGNC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.92G>A	11.37:g.17554814C>T	ENSP00000317018:p.Arg31Gln	Somatic	0	10	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R31Q	ENST00000318024.4	37	c.92	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.368226	0.95900	.	.	ENSG00000006611	ENST00000318024;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T	0.28454	1.71;1.94;1.61;2.16	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.978;0.978	T	0.42155	-0.9468	10	0.54805	T	0.06	.	17.2118	0.86932	0.0:1.0:0.0:0.0	.	31;31;31	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	31;31;31;42	ENSP00000317018:R31Q;ENSP00000436934:R31Q;ENSP00000005226:R31Q;ENSP00000437128:R42Q	ENSP00000005226:R31Q	R	-	2	0	USH1C	17511390	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.814000	0.75236	2.345000	0.79718	0.491000	0.48974	CGA	-	NULL		0.507	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	protein_coding	OTTHUMT00000389146.1	C	NM_005709	-		17554814	-1	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17554814	C	T	17554814	3	4	137	1	0	0	0	0	1	0	0	0	17041	884	31	1	2789	1	USH1C	11	17554814	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09		17554814	117451702	15	10274											
OR4C15	81309	genome.wustl.edu	37	chr11	55322430	55322430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatacaaattctttttacTttccagcttcccttttgtgg	5	9	1	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:55322430T>C	ENST00000314644.2	+	1	648	c.648T>C	c.(646-648)acT>acC	p.T216T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTCTTTTTACTTTCCAGCTTC	0.473										HNSCC(20;0.049)																																							0								ENSG00000181939						85	76	79					11																	55322430		2201	4296	6497	OR4C15	SO:0001819	synonymous_variant	0			-	HGNC	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.648T>C	11.37:g.55322430T>C		Somatic	0	51	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q6IFE2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T216	ENST00000314644.2	37	c.648	CCDS31501.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	T	NM_001001920	-		55322430	1	no_errors	ENST00000314644	ensembl	human	known	74_37	silent	SNP	0.000	C	C	55322430	T	C	55322430	2	2	137	1	0	0	0	0	0	0	0	1	11050	1596	56	5		5	OR4C15	11	55322430	Silent	SNP	T	TCGA-FX-A3NK-01A-11D-A21Q-09	37767616	55322430	79684086	16	10275											
DPF2	5977	genome.wustl.edu	37	chr11	65111502	65111502	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtaagaagctggatgcttCcatcctggaggaccgggata	13	10	0	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:65111502C>G	ENST00000528416.1	+	6	732	c.599C>G	c.(598-600)tCc>tGc	p.S200C	DPF2_ENST00000252268.4_Missense_Mutation_p.S200C|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	200					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTGGATGCTTCCATCCTGGAG	0.557																																																	0								ENSG00000133884						83	76	78					11																	65111502		2201	4297	6498	DPF2	SO:0001583	missense	0			-	HGNC	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.599C>G	11.37:g.65111502C>G	ENSP00000436901:p.Ser200Cys	Somatic	0	29	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	A8K7C9|B4DT58	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.S200C	ENST00000528416.1	37	c.599	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015514	0.75161	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.90004	-2.6;-2.58	5.8	4.89	0.63831	.	0.000000	0.37348	N	0.002122	D	0.83982	0.5372	L	0.38175	1.15	0.41458	D	0.98802	P	0.37864	0.61	B	0.37091	0.241	D	0.84765	0.0764	10	0.62326	D	0.03	-9.5726	12.7018	0.57038	0.0:0.9205:0.0:0.0795	.	200	Q92785	REQU_HUMAN	C	200	ENSP00000436901:S200C;ENSP00000252268:S200C	ENSP00000252268:S200C	S	+	2	0	DPF2	64868078	1.000000	0.71417	0.992000	0.48379	0.588000	0.36517	7.611000	0.82962	1.461000	0.47929	-0.145000	0.13849	TCC	-	NULL		0.557	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	protein_coding	OTTHUMT00000387293.3	C	NM_006268	-		65111502	1	no_errors	ENST00000528416	ensembl	human	known	74_37	missense	SNP	0.994	G	G	65111502	C	G	65111502	3	3	137	1	0	0	0	0	1	0	0	0	4719	855	30	4	621	4	DPF2	11	65111502	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	9789072	65111502	69895014	17	10276											
CCDC83	220047	genome.wustl.edu	37	chr11	85597395	85597395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaacacagttaaagagaatGcagagaaaatgtcaggtcag	10	6	3	2			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr11:85597395G>T	ENST00000342404.3	+	5	712	c.496G>T	c.(496-498)Gca>Tca	p.A166S	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.A166S|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	166										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TAAAGAGAATGCAGAGAAAAT	0.368																																																	0								ENSG00000150676						95	82	86					11																	85597395		2203	4299	6502	CCDC83	SO:0001583	missense	0			-	HGNC	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.496G>T	11.37:g.85597395G>T	ENSP00000344512:p.Ala166Ser	Somatic	0	34	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP							NULL	p.A166S	ENST00000342404.3	37	c.496		11	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691649	0.30052	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.46451	0.88;0.87	5.3	1.97	0.26223	.	0.524430	0.18659	N	0.134767	T	0.33760	0.0874	M	0.68317	2.08	0.80722	D	1	P;P	0.45531	0.86;0.86	B;B	0.41271	0.352;0.352	T	0.22695	-1.0209	9	.	.	.	-8.4766	0.6027	0.00747	0.2408:0.1927:0.3681:0.1984	.	166;166	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	S	166	ENSP00000280245:A166S;ENSP00000344512:A166S	.	A	+	1	0	CCDC83	85275043	0.445000	0.25657	1.000000	0.80357	0.996000	0.88848	0.156000	0.16382	0.608000	0.30000	-0.188000	0.12872	GCA	-	NULL		0.368	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	protein_coding	OTTHUMT00000392215.1	G	NM_173556	-		85597395	1	no_errors	ENST00000280245	ensembl	human	known	74_37	missense	SNP	0.998	T	T	85597395	G	T	85597395	3	4	137	1	0	0	0	0	1	0	0	0	2859	1319	46	3	510	3	CCDC83	11	85597395	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09	20485893	85597395	49409121	18	10277											
CACNA1C	775	genome.wustl.edu	37	chr12	2614008	2614008	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatcattccgttcttccagGtcaatgatgccgtaggaagg	10	10	3	1	rs1131648		TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr12:2614008G>C	ENST00000347598.4	+	8	1114	c.1114G>C	c.(1114-1116)Gtc>Ctc	p.V372L	CACNA1C_ENST00000399606.1_Splice_Site_p.V372L|CACNA1C_ENST00000335762.5_Splice_Site_p.V372L|CACNA1C_ENST00000399649.1_Splice_Site_p.V372L|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399597.1_Splice_Site_p.V372L|CACNA1C_ENST00000399638.1_Splice_Site_p.V372L|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000327702.7_Splice_Site_p.V372L|CACNA1C_ENST00000399644.1_Splice_Site_p.V372L|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000480911.1_Splice_Site_p.V372L|CACNA1C_ENST00000399591.1_Splice_Site_p.V372L|CACNA1C_ENST00000399601.1_Splice_Site_p.V372L|CACNA1C_ENST00000402845.3_Splice_Site_p.V372L|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000344100.3_Splice_Site_p.V372L|CACNA1C_ENST00000399655.1_Splice_Site_p.V372L|CACNA1C_ENST00000399637.1_Splice_Site_p.V372L|CACNA1C_ENST00000399621.1_Splice_Site_p.V372L|CACNA1C_ENST00000399595.1_Splice_Site_p.V372L|CACNA1C_ENST00000399629.1_Splice_Site_p.V372L|CACNA1C_ENST00000399603.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	372					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTCTTCCAGGTCAATGATGC	0.527																																																	0								ENSG00000151067						98	98	98					12																	2614008		1987	4180	6167	CACNA1C	SO:0001630	splice_region_variant	0			-	HGNC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1114-1G>C	12.37:g.2614008G>C		Somatic	0	71	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	117	17.02	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.V372L	ENST00000347598.4	37	c.1114	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678046	0.68042	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.17	5.17	0.71159	Ion transport (1);	.	.	.	.	D	0.96929	0.8997	L	0.52823	1.66	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17268	0.009;0.003;0.021;0.005;0.005;0.003;0.005;0.0;0.005;0.005;0.003;0.006;0.005;0.006;0.003;0.005;0.005;0.003;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26693	0.014;0.007;0.072;0.014;0.014;0.007;0.014;0.016;0.034;0.014;0.014;0.007;0.014;0.019;0.007;0.014;0.014;0.007;0.007	D	0.94983	0.8127	8	.	.	.	.	18.8623	0.92278	0.0:0.0:1.0:0.0	.	372;369;372;372;372;372;372;372;372;372;372;372;372;372;372;372;372;372;372	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	372	ENSP00000336982:V372L;ENSP00000382563:V372L;ENSP00000437936:V372L;ENSP00000382552:V372L;ENSP00000382547:V372L;ENSP00000382506:V372L;ENSP00000382530:V372L;ENSP00000382546:V372L;ENSP00000382500:V372L;ENSP00000266376:V372L;ENSP00000382515:V372L;ENSP00000382510:V372L;ENSP00000341092:V372L;ENSP00000382537:V372L;ENSP00000329877:V372L;ENSP00000382557:V372L;ENSP00000385724:V372L;ENSP00000382504:V372L	.	V	+	1	0	CACNA1C	2484269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.684000	0.91462	0.650000	0.86243	GTC	-	pfam_Ion_trans_dom,prints_VDCCAlpha1		0.527	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	protein_coding	OTTHUMT00000317035.1	G	NM_000719	-	Missense_Mutation	2614008	1	no_errors	ENST00000347598	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2614008	G	C	2614008	5	2	137	1	0	0	0	0	0	0	1	0	2542	1275	44	4	1252	4	CACNA1C	12	2614008	Splice_Site	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		2614008	131237887	19	10278											
TRHDE	29953	genome.wustl.edu	37	chr12	72863625	72863625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagaatactgctggatcCcagtgtttcatctatttctt	6	9	3	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr12:72863625C>A	ENST00000261180.4	+	4	1364	c.1268C>A	c.(1267-1269)cCc>cAc	p.P423H		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	423					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTGGATCCCAGTGTTTCA	0.378																																																	0								ENSG00000072657						159	161	161					12																	72863625		2203	4300	6503	TRHDE	SO:0001583	missense	0			-	HGNC	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1268C>A	12.37:g.72863625C>A	ENSP00000261180:p.Pro423His	Somatic	0	99	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	276	329	45.62	A5PL19|Q6UWJ4	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P423H	ENST00000261180.4	37	c.1268	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467738	0.63625	.	.	ENSG00000072657	ENST00000261180	T	0.05996	3.36	5.87	4.99	0.66335	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.165791	0.53938	D	0.000047	T	0.30978	0.0782	M	0.90309	3.105	0.58432	D	0.999999	D	0.76494	0.999	D	0.64042	0.921	T	0.40757	-0.9546	10	0.72032	D	0.01	.	17.2641	0.87081	0.0:0.8744:0.1256:0.0	.	423	Q9UKU6	TRHDE_HUMAN	H	423	ENSP00000261180:P423H	ENSP00000261180:P423H	P	+	2	0	TRHDE	71149892	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	6.068000	0.71201	1.504000	0.48704	-0.133000	0.14855	CCC	-	pfam_Peptidase_M1_N		0.378	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	protein_coding	OTTHUMT00000405380.1	C	NM_013381	-		72863625	1	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72863625	C	A	72863625	3	1	137	1	0	0	0	0	1	0	0	0	16486	623	22	3	1282	3	TRHDE	12	72863625	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	70249617	72863625	60988270	20	10279											
PSMD9	5715	genome.wustl.edu	37	chr12	122340949	122340949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgagattgtggagttcggctCtgtgaacacccagaacttcc	11	10	1	3			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr12:122340949C>T	ENST00000541212.1	+	4	617	c.491C>T	c.(490-492)tCt>tTt	p.S164F	RP11-87C12.2_ENST00000546333.1_3'UTR|PSMD9_ENST00000261817.2_Missense_Mutation_p.S164F|PSMD9_ENST00000542602.1_Missense_Mutation_p.S59F|PSMD9_ENST00000340175.5_Missense_Mutation_p.S164F			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	164	PDZ.				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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGTTCGGCTCTGTGAACACC	0.532																																																	0								ENSG00000110801						168	134	146					12																	122340949		2203	4300	6503	PSMD9	SO:0001583	missense	0			-	HGNC	AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.491C>T	12.37:g.122340949C>T	ENSP00000440485:p.Ser164Phe	Somatic	0	45	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ	p.S164F	ENST00000541212.1	37	c.491	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396254	0.83011	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000544724;ENST00000542602	T;T;T;T;T	0.31247	1.5;2.11;1.66;1.5;2.11	5.6	5.6	0.85130	PDZ/DHR/GLGF (2);	0.054713	0.85682	D	0.000000	T	0.62853	0.2462	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.66666	-0.5866	10	0.59425	D	0.04	-10.8784	19.6128	0.95616	0.0:1.0:0.0:0.0	.	164;164	F8W7V8;O00233	.;PSMD9_HUMAN	F	164;164;164;75;59	ENSP00000440485:S164F;ENSP00000340847:S164F;ENSP00000261817:S164F;ENSP00000443929:S75F;ENSP00000443772:S59F	ENSP00000261817:S164F	S	+	2	0	RP11-87C12.2;PSMD9	120825332	1.000000	0.71417	0.996000	0.52242	0.631000	0.37964	5.415000	0.66411	2.635000	0.89317	0.655000	0.94253	TCT	-	pfam_PDZ,superfamily_PDZ,smart_PDZ		0.532	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	protein_coding	OTTHUMT00000401686.1	C	NM_002813	-		122340949	1	no_errors	ENST00000541212	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122340949	C	T	122340949	3	4	137	1	0	0	0	0	1	0	0	0	12710	913	32	2	505	2	PSMD9	12	122340949	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	49477324	122340949	11510946	21	10280											
KIAA0564	23078	genome.wustl.edu	37	chr13	42295680	42295680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctccgagtggggtttgggGttatcaactgcatggcagct	15	8	1	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr13:42295680G>T	ENST00000379310.3	-	25	2858	c.2790C>A	c.(2788-2790)aaC>aaA	p.N930K	VWA8_ENST00000281496.6_Missense_Mutation_p.N930K	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	930						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GGGGTTTGGGGTTATCAACTG	0.458																																																	0								ENSG00000102763						90	96	94					13																	42295680		2203	4300	6503	VWA8	SO:0001583	missense	0			-	HGNC	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2790C>A	13.37:g.42295680G>T	ENSP00000368612:p.Asn930Lys	Somatic	0	37	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.N930K	ENST00000379310.3	37	c.2790	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843013	0.71488	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.28895	1.59;1.59	5.62	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56080	-0.8038	10	0.62326	D	0.03	.	7.4975	0.27498	0.5018:0.0:0.4982:0.0	.	930	A3KMH1	K0564_HUMAN	K	834;930;930	ENSP00000368612:N930K;ENSP00000281496:N930K	ENSP00000251030:N834K	N	-	3	2	KIAA0564	41193680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.907000	0.28531	0.231000	0.21079	0.591000	0.81541	AAC	-	superfamily_P-loop_NTPase		0.458	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	G	NM_015058	-		42295680	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42295680	G	T	42295680	3	4	137	1	0	0	0	0	1	0	0	0	8187	1252	44	3	3015	3	KIAA0564	13	42295680	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		42295680	72874198	22	10281											
TDRD3	81550	genome.wustl.edu	37	chr13	61103340	61103340	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatgttttgcactttattggGaagacaacaaggtatggatg	11	4	0	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr13:61103340G>T	ENST00000196169.3	+	11	2490	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	TDRD3_ENST00000377894.2_Nonsense_Mutation_p.E568*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.E568*|TDRD3_ENST00000535286.1_Nonsense_Mutation_p.E661*	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	568	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTTTATTGGGAAGACAACAA	0.343																																					Colon(36;164 906 35820 50723)												0								ENSG00000083544						65	68	67					13																	61103340		2203	4300	6503	TDRD3	SO:0001587	stop_gained	0			-	HGNC	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1702G>T	13.37:g.61103340G>T	ENSP00000196169:p.Glu568*	Somatic	0	48	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B2MWP9|Q53XA6|Q6P992	Nonsense_Mutation	SNP							pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.E661*	ENST00000196169.3	37	c.1981	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	41	8.641402	0.98897	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.9723	20.5276	0.99231	0.0:0.0:1.0:0.0	.	.	.	.	X	568;568;568;661	.	ENSP00000196169:E568X	E	+	1	0	TDRD3	60001341	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.432000	0.90288	2.937000	0.99478	0.650000	0.86243	GAA	-	pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor		0.343	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	protein_coding	OTTHUMT00000045175.2	G	NM_030794	-		61103340	1	no_errors	ENST00000535286	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	61103340	G	T	61103340	4	4	137	1	0	0	0	0	0	1	0	0	15739	1175	41	3	2023	3	TDRD3	13	61103340	Nonsense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09	18807660	61103340	54066538	23	10282											
VPS13C	54832	genome.wustl.edu	37	chr15	62234169	62234169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaggcggaaactctttTgagccaagtctttcatgctg	9	9	4	1	rs141806515		TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr15:62234169T>C	ENST00000261517.5	-	46	5319	c.5246A>G	c.(5245-5247)cAa>cGa	p.Q1749R	VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1706R|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1749R|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1706R	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						GAAACTCTTTTGAGCCAAGTC	0.413																																																	0								ENSG00000129003						69	71	70					15																	62234169		2203	4300	6503	VPS13C	SO:0001583	missense	0			-	HGNC	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.5246A>G	15.37:g.62234169T>C	ENSP00000261517:p.Gln1749Arg	Somatic	0	33	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	12	69.23		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.Q1749R	ENST00000261517.5	37	c.5246	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757442	0.49468	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.14144	2.53;2.53;2.53	5.09	5.09	0.68999	.	0.128237	0.53938	D	0.000057	T	0.21145	0.0509	M	0.70595	2.14	0.58432	D	0.999994	B;B;B;B	0.18166	0.012;0.026;0.013;0.017	B;B;B;B	0.27608	0.055;0.081;0.042;0.028	T	0.02257	-1.1187	10	0.48119	T	0.1	.	15.1562	0.72743	0.0:0.0:0.0:1.0	.	1706;1749;1706;1749	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	1706;1749;1749;1749	ENSP00000249837:Q1706R;ENSP00000261517:Q1749R;ENSP00000379233:Q1749R	ENSP00000249837:Q1706R	Q	-	2	0	VPS13C	60021461	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.592000	0.82676	2.048000	0.60808	0.533000	0.62120	CAA	-	NULL		0.413	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	T	NM_017684	-		62234169	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	SNP	0.999	C	C	62234169	T	C	62234169	3	2	137	1	0	0	0	0	1	0	0	0	17198	1812	63	5	6203	5	VPS13C	15	62234169	Missense_Mutation	SNP	T	TCGA-FX-A3NK-01A-11D-A21Q-09		62234169	40297223	24	10283											
ITGAX	3687	genome.wustl.edu	37	chr16	31374054	31374054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcaatggaggatgaagGccgaagtcacggggactcag	16	9	2	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr16:31374054G>T	ENST00000268296.4	+	12	1460	c.1339G>T	c.(1339-1341)Gcc>Tcc	p.A447S	ITGAX_ENST00000562522.1_Missense_Mutation_p.A447S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	447					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)			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						GAGGATGAAGGCCGAAGTCAC	0.647																																																	0								ENSG00000140678						42	40	41					16																	31374054		2197	4300	6497	ITGAX	SO:0001583	missense	0			-	HGNC	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.1339G>T	16.37:g.31374054G>T	ENSP00000268296:p.Ala447Ser	Somatic	0	63	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q8IVA6	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A447S	ENST00000268296.4	37	c.1339	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	g	9.361	1.068033	0.20067	.	.	ENSG00000140678	ENST00000268296	T	0.11821	2.74	3.42	0.995	0.19838	.	.	.	.	.	T	0.10380	0.0254	L	0.46885	1.475	0.09310	N	1	B	0.21520	0.057	B	0.26969	0.075	T	0.42310	-0.9459	9	0.11485	T	0.65	.	4.6948	0.12799	0.1183:0.0:0.3443:0.5373	.	447	P20702	ITAX_HUMAN	S	447	ENSP00000268296:A447S	ENSP00000268296:A447S	A	+	1	0	ITGAX	31281555	0.000000	0.05858	0.048000	0.18961	0.096000	0.18686	0.515000	0.22801	0.491000	0.27793	0.291000	0.19559	GCC	-	smart_Int_alpha_beta-p		0.647	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	protein_coding	OTTHUMT00000255628.2	G	NM_000887	-		31374054	1	no_errors	ENST00000268296	ensembl	human	known	74_37	missense	SNP	0.130	T	T	31374054	G	T	31374054	3	4	137	1	0	0	0	0	1	0	0	0	7891	1203	42	3	1385	3	ITGAX	16	31374054	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		31374054	58980699	25	10284											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6311562	6311562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcttaccaagcgtccGtcctgatccaaacgctcttt	7	14	2	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr18:6311562G>A	ENST00000284898.6	-	3	263	c.63C>T	c.(61-63)gaC>gaT	p.D21D	L3MBTL4_ENST00000400105.2_Silent_p.D21D|L3MBTL4_ENST00000400104.3_Silent_p.D21D|L3MBTL4_ENST00000317931.7_Silent_p.D21D	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	21					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAAGCGTCCGTCCTGATCCA	0.483																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0								ENSG00000154655						317	284	295					18																	6311562		2203	4300	6503	L3MBTL4	SO:0001819	synonymous_variant	0			-	HGNC	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.63C>T	18.37:g.6311562G>A		Somatic	0	54	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	A8MTL8|Q8IXS3	Silent	SNP							pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.D21	ENST00000284898.6	37	c.63	CCDS11839.2	18																																																																																			-	NULL		0.483	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	protein_coding	OTTHUMT00000254448.2	G	NM_173464	-		6311562	-1	no_errors	ENST00000284898	ensembl	human	known	74_37	silent	SNP	0.002	A	A	6311562	G	A	6311562	2	1	137	1	0	0	0	0	0	0	0	1	8596	1136	40	1		1	L3MBTL4	18	6311562	Silent	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		6311562	71765686	26	10285											
KIAA1012	22878	genome.wustl.edu	37	chr18	29522574	29522574	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggaggataccacataccctCggaagtgaggcgggagaagg	17	8	0	2			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr18:29522574C>A	ENST00000283351.4	-	1	489	c.154G>T	c.(154-156)Gag>Tag	p.E52*	TRAPPC8_ENST00000582513.1_Nonsense_Mutation_p.E52*|TRAPPC8_ENST00000582539.1_Intron|TRAPPC8_ENST00000584876.1_5'UTR|RP11-326K13.4_ENST00000580420.1_RNA	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	52					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACATACCCTCGGAAGTGAGG	0.617																																																	0								ENSG00000153339						44	35	38					18																	29522574		2202	4300	6502	TRAPPC8	SO:0001587	stop_gained	0			-	HGNC	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.154G>T	18.37:g.29522574C>A	ENSP00000283351:p.Glu52*	Somatic	0	42	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A0JP15|B3KME5|Q9H0L2	Nonsense_Mutation	SNP							NULL	p.E52*	ENST00000283351.4	37	c.154	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	41	9.127707	0.99075	.	.	ENSG00000153339	ENST00000283351	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	18.4221	0.90594	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000283351:E52X	E	-	1	0	TRAPPC8	27776572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.835000	0.75344	2.753000	0.94483	0.467000	0.42956	GAG	-	NULL		0.617	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	protein_coding	OTTHUMT00000255355.1	C	NM_014939	-		29522574	-1	no_errors	ENST00000283351	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	29522574	C	A	29522574	4	1	137	1	0	0	0	0	0	1	0	0	8206	893	31	3	4269	3	KIAA1012	18	29522574	Nonsense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	23211012	29522574	48554674	27	10286											
ZNF397OS	100101467	genome.wustl.edu	37	chr18	32833487	32833487	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgtttttctacattcactaCattcataaggcttctctcca	3	11	4	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr18:32833487C>G	ENST00000420878.3	-	5	1867	c.1412G>C	c.(1411-1413)tGt>tCt	p.C471S	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.C471S	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	471					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)			large_intestine(5)|lung(3)|urinary_tract(1)	9						ACATTCACTACATTCATAAGG	0.418																																																	0								ENSG00000186814						128	112	117					18																	32833487		1568	3582	5150	ZSCAN30	SO:0001583	missense	0			-	HGNC	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"-", "Zinc fingers, C2H2-type"	33517	protein-coding gene	gene with protein product			"zinc finger protein 397 opposite strand", "ZNF397 opposite strand"	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1412G>C	18.37:g.32833487C>G	ENSP00000392371:p.Cys471Ser	Somatic	0	73	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	59	30.59	B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C471S	ENST00000420878.3	37	c.1412	CCDS42427.1	18	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328856	0.81690	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	D;D	0.85171	-1.95;-1.95	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39146	N	0.001455	D	0.94311	0.8172	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95700	0.8748	10	0.87932	D	0	.	14.408	0.67096	0.0:1.0:0.0:0.0	.	471	Q86W11	ZSC30_HUMAN	S	471;471;406	ENSP00000392371:C471S;ENSP00000329738:C471S	ENSP00000329738:C471S	C	-	2	0	ZSCAN30	31087485	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.226000	0.78060	2.325000	0.78763	0.655000	0.94253	TGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZSCAN30	protein_coding	OTTHUMT00000442510.1	C	NM_001112734	-		32833487	-1	no_errors	ENST00000333206	ensembl	human	known	74_37	missense	SNP	0.999	G	G	32833487	C	G	32833487	3	3	137	1	0	0	0	0	1	0	0	0	17891	478	17	4	76	4	ZNF397OS	18	32833487	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09	3310913	32833487	45243761	28	10287											
CACNA1A	773	genome.wustl.edu	37	chr19	13616929	13616929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggctgcccgccctgcCggctgcccccggctcctcgc	12	24	0	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr19:13616929C>T	ENST00000360228.5	-	1	109	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R37Q	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	37					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)			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)	CCCGCCCTGCCGGCTGCCCCC	0.721																																																	0								ENSG00000141837						35	38	37					19																	13616929		1931	4132	6063	CACNA1A	SO:0001583	missense	0			-	HGNC	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.110G>A	19.37:g.13616929C>T	ENSP00000353362:p.Arg37Gln	Somatic	0	26	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.R37Q	ENST00000360228.5	37	c.110	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270284	0.59540	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	2.97	2.97	0.34412	.	1.435950	0.05489	U	0.556199	D	0.93831	0.8027	M	0.79475	2.455	0.40741	D	0.982833	D;D	0.61080	0.989;0.989	B;B	0.35039	0.194;0.194	D	0.88855	0.3322	10	0.26408	T	0.33	.	12.7958	0.57558	0.0:1.0:0.0:0.0	.	37;37	O00555;Q9NS88	CAC1A_HUMAN;.	Q	37	ENSP00000353362:R37Q	ENSP00000317661:R37Q	R	-	2	0	CACNA1A	13477929	.	.	1.000000	0.80357	0.906000	0.53458	.	.	1.493000	0.48517	0.508000	0.49915	CGG	-	NULL		0.721	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	C	NM_000068	-		13616929	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13616929	C	T	13616929	3	4	137	1	0	0	0	0	1	0	0	0	2540	652	23	1	7712	1	CACNA1A	19	13616929	Missense_Mutation	SNP	C	TCGA-FX-A3NK-01A-11D-A21Q-09		13616929	45512054	29	10288											
ZNF492	57615	genome.wustl.edu	37	chr19	22847104	22847104	+	Frame_Shift_Del	DEL	C	C	-													gcctttaaccggctctcacaCcttactacacataagataat							TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr19:22847104delC	ENST00000456783.2	+	4	877	c.633delC	c.(631-633)cacfs	p.H211fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	211					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(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGCTCTCACACCTTACTACAC	0.378																																																	0								ENSG00000229676						9	12	11					19																	22847104		1793	4054	5847	ZNF492	SO:0001589	frameshift_variant	0				HGNC	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.633delC	19.37:g.22847104delC	ENSP00000413660:p.His211fs	Somatic	0	40	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	Q08EI7|Q08EI8	Frame_Shift_Del	DEL							pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T213fs	ENST00000456783.2	37	c.633	CCDS46032.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	protein_coding	OTTHUMT00000464581.1	C	NM_020855			22847104	1	no_errors	ENST00000456783	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	22847104	C	-	22847104	7	5	137	1	0	1	0	1	0	0	0	0	17950	506	18	0	643	0	ZNF492	19	22847104	Frame_Shift_Del	DEL	C	TCGA-FX-A3NK-01A-11D-A21Q-09	9230175	22847104	36281879	30	10289											
SPTBN4	57731	genome.wustl.edu	37	chr19	41063133	41063133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggcccagctgctggccGcctctcgggagcttcataag	13	15	2	0			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr19:41063133G>A	ENST00000352632.3	+	26	5580	c.5494G>A	c.(5494-5496)Gcc>Acc	p.A1832T	SPTBN4_ENST00000392023.1_Missense_Mutation_p.A508T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1832T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1832T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A575T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1832T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1832					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCTGGCCGCCTCTCGGGA	0.657																																																	0								ENSG00000160460						23	27	26					19																	41063133		2203	4296	6499	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5494G>A	19.37:g.41063133G>A	ENSP00000263373:p.Ala1832Thr	Somatic	0	25	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1832T	ENST00000352632.3	37	c.5494	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659632	0.88154	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	3.63	3.63	0.41609	.	0.000000	0.64402	D	0.000007	T	0.56963	0.2021	M	0.70108	2.13	0.48696	D	0.999691	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.926;0.912;0.974;1.0	T	0.57493	-0.7802	10	0.34782	T	0.22	.	14.5979	0.68419	0.0:0.0:1.0:0.0	.	575;508;1832;1832	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	T	1832;1832;1832;575;508	ENSP00000263373:A1832T;ENSP00000340345:A1832T;ENSP00000375879:A575T;ENSP00000375877:A508T	ENSP00000340345:A1832T	A	+	1	0	SPTBN4	45754973	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.587000	0.82613	2.036000	0.60181	0.455000	0.32223	GCC	-	pirsf_Spectrin_bsu		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41063133	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	0.999	A	A	41063133	G	A	41063133	3	1	137	1	0	0	0	0	1	0	0	0	15128	1087	38	1	5592	1	SPTBN4	19	41063133	Missense_Mutation	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09	18216029	41063133	18065850	31	10290											
PRIC285	85441	genome.wustl.edu	37	chr20	62198221	62198221	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaccgtgggaaacgacacaGatgcacctctgctcgcggcc	12	15	1	1			TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chr20:62198221G>T	ENST00000467148.1	-	6	2559	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	HELZ2_ENST00000427522.2_Silent_p.I261I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	830	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AAACGACACAGATGCACCTCT	0.692																																																	0								ENSG00000130589						35	38	37					20																	62198221		2199	4298	6497	HELZ2	SO:0001819	synonymous_variant	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2490C>A	20.37:g.62198221G>T		Somatic	0	27	0		0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP							superfamily_P-loop_NTPase	p.I830	ENST00000467148.1	37	c.2490	CCDS33508.1	20																																																																																			-	superfamily_P-loop_NTPase		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	G	NM_001037335	-		62198221	-1	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	SNP	1.000	T	T	62198221	G	T	62198221	2	4	137	1	0	0	0	0	0	0	0	1	12490	932	33	3		3	PRIC285	20	62198221	Silent	SNP	G	TCGA-FX-A3NK-01A-11D-A21Q-09		62198221	827299	32	10291											
NUDT11	55190	genome.wustl.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-FX-A3NK-01A-11D-A21Q-09	TCGA-FX-A3NK-10A-01D-A21Q-09	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8e94e3f-cfa9-4884-af2a-cbbb3cb26bcb	31fec909-203b-4e40-bc0c-abdc21b42849	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)												5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)						ENSG00000196368			1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				NUDT11	SO:0001582	initiator_codon_variant	0				HGNC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		Somatic					0.628529655063467				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q9NVN0	Frame_Shift_Del	DEL							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.M1fs	ENST00000375992.3	37	c.1	CCDS43952.1	X																																																																																			-	superfamily_NUDIX_hydrolase_dom-like		0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT11	protein_coding	OTTHUMT00000056579.1	TCCTCGAGGCAGCC				51239309	-1	no_errors	ENST00000375992	ensembl	human	known	74_37	frame_shift_del	DEL	0.928	-	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	137	1	0	1	0	1	0	0	0	0	10729	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-FX-A3NK-01A-11D-A21Q-09		51239296	104031264	33	10292											
HSPG2	3339	genome.wustl.edu	37	chr1	22203080	22203080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgaggcagccatcgggGtttcgggtactcaggtggaa	15	9	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:22203080G>T	ENST00000374695.3	-	22	2830	c.2751C>A	c.(2749-2751)aaC>aaA	p.N917K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	917	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)	AGCCATCGGGGTTTCGGGTAC	0.597																																																	0								ENSG00000142798						106	81	89					1																	22203080		2203	4300	6503	HSPG2	SO:0001583	missense	0			-	HGNC	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.2751C>A	1.37:g.22203080G>T	ENSP00000363827:p.Asn917Lys	Somatic	0	56	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	28	0	0	18	0.00	0	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.N917K	ENST00000374695.3	37	c.2751	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459950	0.43736	.	.	ENSG00000142798	ENST00000374695	T	0.63417	-0.04	4.92	2.98	0.34508	EGF-like, laminin (3);	0.000000	0.42294	D	0.000738	T	0.81408	0.4816	M	0.93507	3.425	0.48511	D	0.999663	D	0.76494	0.999	D	0.83275	0.996	T	0.82942	-0.0207	10	0.72032	D	0.01	.	8.7603	0.34669	0.0874:0.1509:0.7617:0.0	.	917	P98160	PGBM_HUMAN	K	917	ENSP00000363827:N917K	ENSP00000363827:N917K	N	-	3	2	HSPG2	22075667	0.999000	0.42202	0.947000	0.38551	0.128000	0.20619	2.040000	0.41203	1.051000	0.40369	-0.305000	0.09177	AAC	-	pfam_EGF_laminin,smart_EGF_laminin		0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22203080	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22203080	G	T	22203080	3	4	138	1	0	0	0	0	1	0	0	0	7432	1252	44	3	10728	3	HSPG2	1	22203080	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		22203080	227047541	1	10293											
SPOCD1	90853	genome.wustl.edu	37	chr1	32256805	32256805	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctggaagcccttccTtggggagcagcacagccagc	13	13	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:32256805T>A	ENST00000360482.2	-	16	3179	c.3050A>T	c.(3049-3051)aAg>aTg	p.K1017M	SPOCD1_ENST00000533231.1_Missense_Mutation_p.K1004M|SPOCD1_ENST00000257100.3_Missense_Mutation_p.K497M|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1017					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAGCCCTTCCTTGGGGAGCAG	0.562																																																	0								ENSG00000134668						26	29	28					1																	32256805		2203	4300	6503	SPOCD1	SO:0001583	missense	0			-	HGNC	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3050A>T	1.37:g.32256805T>A	ENSP00000353670:p.Lys1017Met	Somatic	0	30	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	31	0	0	15	53.12	17	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.K1017M	ENST00000360482.2	37	c.3050	CCDS347.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.22|16.22	3.062041|3.062041	0.55432|0.55432	.|.	.|.	ENSG00000134668|ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231|ENST00000294514	T;T;T;T|.	0.55052|.	0.54;1.18;0.54;1.48|.	4.88|4.88	1.2|1.2	0.21068|0.21068	.|.	.|.	.|.	.|.	.|.	T|T	0.26666|0.26666	0.0652|0.0652	L|L	0.27053|0.27053	0.805|0.805	0.21967|0.21967	N|N	0.999442|0.999442	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.69479|.	0.964;0.921;0.921|.	T|T	0.25710|0.25710	-1.0124|-1.0124	9|6	0.87932|0.72032	D|D	0|0.01	-14.4331|-14.4331	4.8876|4.8876	0.13710|0.13710	0.0:0.0985:0.3834:0.5181|0.0:0.0985:0.3834:0.5181	.|.	1004;440;1017|.	Q6ZMY3-2;E9PPM7;Q6ZMY3|.	.;.;SPOC1_HUMAN|.	M|W	497;1017;440;1004|302	ENSP00000257100:K497M;ENSP00000353670:K1017M;ENSP00000399778:K440M;ENSP00000435851:K1004M|.	ENSP00000257100:K497M|ENSP00000294514:R302W	K|R	-|-	2|1	0|2	SPOCD1|SPOCD1	32029392|32029392	0.311000|0.311000	0.24536|0.24536	0.546000|0.546000	0.28166|0.28166	0.872000|0.872000	0.50106|0.50106	0.508000|0.508000	0.22692|0.22692	0.362000|0.362000	0.24319|0.24319	0.533000|0.533000	0.62120|0.62120	AAG|AGG	-	NULL		0.562	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	protein_coding	OTTHUMT00000381912.1	T	NM_144569	-		32256805	-1	no_errors	ENST00000360482	ensembl	human	known	74_37	missense	SNP	0.396	A	A	32256805	T	A	32256805	3	1	138	1	0	0	0	0	1	0	0	0	15085	1609	56	5	604	5	SPOCD1	1	32256805	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	10053725	32256805	216993816	2	10294											
TCHH	7062	genome.wustl.edu	37	chr1	152080272	152080272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcagctgctgttcttcCctctcctggcgtagctgttc	12	14	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:152080272C>A	ENST00000368804.1	-	2	5420	c.5421G>T	c.(5419-5421)agG>agT	p.R1807S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1807	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTCTTCCCTCTCCTGGC	0.602																																																	0								ENSG00000159450						79	80	80					1																	152080272		2010	4181	6191	TCHH	SO:0001583	missense	0			-	HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5421G>T	1.37:g.152080272C>A	ENSP00000357794:p.Arg1807Ser	Somatic	0	80	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	Q5VUI3	Missense_Mutation	SNP	26	0	0	36	30.77	16	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1807S	ENST00000368804.1	37	c.5421	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010703	0.19277	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	2.88	-3.03	0.05429	.	.	.	.	.	T	0.01558	0.0050	L	0.61218	1.895	0.09310	N	1	P	0.47762	0.9	B	0.43838	0.433	T	0.37384	-0.9708	9	0.12766	T	0.61	-3.3059	4.4778	0.11752	0.0:0.2864:0.3102:0.4034	.	1807	Q07283	TRHY_HUMAN	S	1807	ENSP00000357794:R1807S	ENSP00000357794:R1807S	R	-	3	2	TCHH	150346896	0.000000	0.05858	0.002000	0.10522	0.207000	0.24258	-0.278000	0.08490	-0.702000	0.05056	-0.688000	0.03733	AGG	-	NULL		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	C	NM_007113	-		152080272	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	SNP	0.014	A	A	152080272	C	A	152080272	3	1	138	1	0	0	0	0	1	0	0	0	15707	622	22	3	414	3	TCHH	1	152080272	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	119823467	152080272	97170349	3	10295											
FAM5C	339479	genome.wustl.edu	37	chr1	190067918	190067919	+	Missense_Mutation	DNP	GG	GG	TT													attgctgataaaaatggcatGgacttctattcgtctgtccg							TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:190067918_190067919GG>TT	ENST00000367462.3	-	8	1761_1762	c.1530_1531CC>AA	c.(1528-1533)gtCCat>gtAAat	p.H511N	BRINP3_ENST00000534846.1_Missense_Mutation_p.H409N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	511					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)											AAAATGGCATGGACTTCTATTC	0.465																																																	0								ENSG00000162670																																			BRINP3	SO:0001583	missense	0			-	HGNC	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.1530_1531delinsTT	1.37:g.190067918_190067919delinsTT	ENSP00000356432:p.His511Asn	Somatic	0	37|35	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36|35	16.28|16.67	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation|Silent	SNP	30	0	0	42	16.00	8	pfam_MACPF,smart_MACPF	p.H511N|p.V510	ENST00000367462.3	37	c.1531|c.1530	CCDS1373.1	1																																																																																			-	NULL		0.465	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	protein_coding	OTTHUMT00000086278.1	G	NM_199051	-		190067918|190067919	-1	no_errors	ENST00000367462	ensembl	human	known	74_37	missense|silent	SNP	1.000|0.998	T	TT	190067919	GG	TT	190067918	3	4	138	1	0	0	0	0	1	0	0	0	5596	1348	47	3	773	3	FAM5C	1	190067918	Missense_Mutation	DNP	GG	TCGA-FX-A3RE-01A-11D-A228-09	37987646	190067918	59182703	4	10296											
CRB1	23418	genome.wustl.edu	37	chr1	197398674	197398674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggaaagcctgtgaggaGgttcagtggtgtggattcag	18	4	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:197398674G>A	ENST00000367400.3	+	8	2907	c.2772G>A	c.(2770-2772)gaG>gaA	p.E924E	CRB1_ENST00000367397.1_Silent_p.E305E|CRB1_ENST00000535699.1_Silent_p.E900E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.E405E|CRB1_ENST00000367399.2_Silent_p.E812E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	924	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						CCTGTGAGGAGGTTCAGTGGT	0.552																																																	0								ENSG00000134376						148	128	135					1																	197398674		2203	4300	6503	CRB1	SO:0001819	synonymous_variant	0			-	HGNC		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.2772G>A	1.37:g.197398674G>A		Somatic	0	59	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	24	0	0	45	21.05	12	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E924	ENST00000367400.3	37	c.2772	CCDS1390.1	1																																																																																			-	NULL		0.552	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	G	NM_201253	-		197398674	1	no_errors	ENST00000367400	ensembl	human	known	74_37	silent	SNP	0.020	A	A	197398674	G	A	197398674	2	1	138	1	0	0	0	0	0	0	0	1	3850	991	35	2		2	CRB1	1	197398674	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	7330756	197398674	51851947	5	10297											
PM20D1	148811	genome.wustl.edu	37	chr1	205814604	205814604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctgcaagctggggtccGagccttggatagtgaacagg	17	8	0	1	rs189235498	byFrequency	TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:205814604G>A	ENST00000367136.4	-	3	382	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	113					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCTGGGGTCCGAGCCTTGGAT	0.552													G|||	2	0.000399361	0	0	5008	,	,		17813	0.002		0	False		,,,				2504	0																0								ENSG00000162877						103	101	102					1																	205814604		2203	4300	6503	PM20D1	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.338C>T	1.37:g.205814604G>A	ENSP00000356104:p.Ser113Leu	Somatic	0	58	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	Q6P4E3|Q96DM4	Missense_Mutation	SNP	27	0	0	42	27.59	16	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.S113L	ENST00000367136.4	37	c.338	CCDS1460.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.32	3.359026	0.61403	.	.	ENSG00000162877	ENST00000367136	T	0.09817	2.94	6.04	6.04	0.98038	.	0.176869	0.51477	D	0.000084	T	0.20901	0.0503	M	0.82823	2.61	0.80722	D	1	P	0.51653	0.947	B	0.39531	0.302	T	0.07424	-1.0773	10	0.87932	D	0	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	113	Q6GTS8	P20D1_HUMAN	L	113	ENSP00000356104:S113L	ENSP00000356104:S113L	S	-	2	0	PM20D1	204081227	1.000000	0.71417	0.934000	0.37439	0.169000	0.22640	9.175000	0.94831	2.873000	0.98535	0.561000	0.74099	TCG	-	NULL		0.552	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	protein_coding	OTTHUMT00000087736.1	G	NM_152491	rs189235498		205814604	-1	no_errors	ENST00000367136	ensembl	human	known	74_37	missense	SNP	0.998	A	A	205814604	G	A	205814604	3	1	138	1	0	0	0	0	1	0	0	0	12130	1059	37	1	1214	1	PM20D1	1	205814604	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	8415930	205814604	43436017	6	10298											
CTSE	1510	genome.wustl.edu	37	chr1	206327499	206327499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaaggtggtgcggggagcGagctgatttttggaggctac	18	6	0	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:206327499G>A	ENST00000358184.2	+	6	806	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CTSE_ENST00000432969.2_Missense_Mutation_p.E155K|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.E230K|CTSE_ENST00000361052.3_Missense_Mutation_p.E235K	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGCGGGGAGCGAGCTGATTTT	0.537																																																	0								ENSG00000196188						171	172	172					1																	206327499		2203	4300	6503	CTSE	SO:0001583	missense	0			-	HGNC	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.688G>A	1.37:g.206327499G>A	ENSP00000350911:p.Glu230Lys	Somatic	0	99	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	63	30.00	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	34	0	0	44	27.87	17	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.E235K	ENST00000358184.2	37	c.703	CCDS1462.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062252	0.76187	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.9	3.98	0.46160	.	0.000000	0.64402	D	0.000002	T	0.76449	0.3989	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.80176	-0.1491	10	0.66056	D	0.02	.	13.3469	0.60578	0.0772:0.0:0.9228:0.0	.	155;230;230	B4DNU8;P14091-2;P14091-1	.;.;.	K	230;235;230;155	ENSP00000350911:E230K;ENSP00000354337:E235K;ENSP00000353350:E230K;ENSP00000394607:E155K	ENSP00000350911:E230K	E	+	1	0	CTSE	204494122	1.000000	0.71417	0.805000	0.32314	0.534000	0.34807	7.115000	0.77110	1.284000	0.44531	0.655000	0.94253	GAG	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase		0.537	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	protein_coding	OTTHUMT00000087998.1	G	NM_001910	-		206327499	1	no_errors	ENST00000361052	ensembl	human	known	74_37	missense	SNP	0.997	A	A	206327499	G	A	206327499	3	1	138	1	0	0	0	0	1	0	0	0	4035	1059	37	1	710	1	CTSE	1	206327499	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	512895	206327499	42923122	7	10299											
C1orf65	164127	genome.wustl.edu	37	chr1	223568250	223568250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgagctgagggagaaggCccagaaggaggaagagcagt	18	7	0	4			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr1:223568250C>T	ENST00000366875.3	+	1	1536	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		478										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGGAGAAGGCCCAGAAGGAG	0.602																																																	0								ENSG00000178395						60	68	65					1																	223568250		2203	4300	6503	C1orf65	SO:0001583	missense	0			-	HGNC																												ENST00000366875.3:c.1433C>T	1.37:g.223568250C>T	ENSP00000355840:p.Ala478Val	Somatic	0	17	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	Q8N746|Q8NA93	Missense_Mutation	SNP	29	0	0	36	40.00	24	NULL	p.A478V	ENST00000366875.3	37	c.1433	CCDS1537.1	1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599619	0.46318	.	.	ENSG00000178395	ENST00000366875	T	0.32515	1.45	5.48	2.49	0.30216	.	.	.	.	.	T	0.20618	0.0496	N	0.24115	0.695	0.45005	D	0.998025	D	0.55605	0.972	P	0.47075	0.536	T	0.05022	-1.0911	9	0.24483	T	0.36	.	5.3348	0.15951	0.1625:0.6584:0.0:0.1792	.	478	Q8N715	CA065_HUMAN	V	478	ENSP00000355840:A478V	ENSP00000355840:A478V	A	+	2	0	C1orf65	221634873	0.692000	0.27719	0.339000	0.25562	0.983000	0.72400	1.225000	0.32551	0.236000	0.21180	0.655000	0.94253	GCC	-	NULL		0.602	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	protein_coding	OTTHUMT00000092718.1	C		-		223568250	1	no_errors	ENST00000366875	ensembl	human	known	74_37	missense	SNP	0.997	T	T	223568250	C	T	223568250	3	4	138	1	0	0	0	0	1	0	0	0	2057	739	26	2	1435	2	C1orf65	1	223568250	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	17240751	223568250	25682371	8	10300											
APOB	338	genome.wustl.edu	37	chr2	21228405	21228405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtaggttgagggcaaAtgatgaagttctcagcttct	13	5	2	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:21228405A>G	ENST00000233242.1	-	26	11462	c.11335T>C	c.(11335-11337)Ttt>Ctt	p.F3779L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3779					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)					TTGAGGGCAAATGATGAAGTT	0.403																																																	0								ENSG00000084674						113	117	115					2																	21228405		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.11335T>C	2.37:g.21228405A>G	ENSP00000233242:p.Phe3779Leu	Somatic	0	24	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	10	50.00	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	25	0	0	41	33.87	21	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.F3779L	ENST00000233242.1	37	c.11335	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493199	0.64186	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01821	4.62	5.57	5.57	0.84162	.	0.106703	0.41938	N	0.000798	T	0.04048	0.0113	L	0.50333	1.59	0.80722	D	1	P	0.36753	0.568	B	0.42522	0.39	T	0.50074	-0.8870	10	0.52906	T	0.07	.	15.7265	0.77763	1.0:0.0:0.0:0.0	.	3779	P04114	APOB_HUMAN	L	3779	ENSP00000233242:F3779L	ENSP00000233242:F3779L	F	-	1	0	APOB	21081910	1.000000	0.71417	0.723000	0.30687	0.753000	0.42808	8.595000	0.90840	2.115000	0.64714	0.533000	0.62120	TTT	-	NULL		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	A		-		21228405	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21228405	A	G	21228405	3	3	138	1	0	0	0	0	1	0	0	0	785	101	4	5	2372	5	APOB	2	21228405	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09		21228405	221970968	9	10301											
MPV17	4358	genome.wustl.edu	37	chr2	27535900	27535900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccatggtcagagtccgGcctctctggtgttcctgcag	12	13	2	1	rs397507438		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:27535900G>A	ENST00000380044.1	-	3	202	c.147C>T	c.(145-147)ggC>ggT	p.G49G	MPV17_ENST00000405983.1_Silent_p.G64G|MPV17_ENST00000402310.1_Silent_p.G49G|MPV17_ENST00000405076.1_Silent_p.G49G|MPV17_ENST00000233545.2_Silent_p.G49G|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000403262.2_Silent_p.G49G|MPV17_ENST00000402722.1_Missense_Mutation_p.P38S	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	49					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAGTCCGGCCTCTCTGGT	0.567																																																	0								ENSG00000115204						112	112	112					2																	27535900		2203	4300	6503	MPV17	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"glomerulosclerosis"	137960	"MpV17 transgene, murine homolog, glomerulosclerosis"			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.147C>T	2.37:g.27535900G>A		Somatic	0	28	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	11.76	D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	23	0	0	39	20.41	10	NULL	p.P38S	ENST00000380044.1	37	c.112	CCDS1748.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.64|11.64	1.699360|1.699360	0.30142|0.30142	.|.	.|.	ENSG00000115204|ENSG00000115204	ENST00000430991|ENST00000402722	.|T	.|0.80738	.|-1.41	5.37|5.37	4.36|4.36	0.52297|0.52297	.|.	.|.	.|.	.|.	.|.	D|D	0.83170|0.83170	0.5196|0.5196	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.83539|0.83539	0.0095|0.0095	4|6	.|0.87932	.|D	.|0	.|.	7.7893|7.7893	0.29110|0.29110	0.1396:0.0:0.8604:0.0|0.1396:0.0:0.8604:0.0	.|.	.|.	.|.	.|.	V|S	26|38	.|ENSP00000386000:P38S	.|ENSP00000386000:P38S	A|P	-|-	2|1	0|0	MPV17|MPV17	27389404|27389404	0.911000|0.911000	0.30947|0.30947	0.978000|0.978000	0.43139|0.43139	0.738000|0.738000	0.42128|0.42128	1.362000|1.362000	0.34148|0.34148	1.247000|1.247000	0.43917|0.43917	0.609000|0.609000	0.83330|0.83330	GCC|CCG	-	NULL		0.567	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17	protein_coding	OTTHUMT00000214193.1	G	NM_002437	-		27535900	-1	no_errors	ENST00000426513	ensembl	human	known	74_37	missense	SNP	0.993	A	A	27535900	G	A	27535900	2	1	138	1	0	0	0	0	0	0	0	1	9747	1190	42	2		2	MPV17	2	27535900	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	6307495	27535900	215663473	10	10302											
BIRC6	57448	genome.wustl.edu	37	chr2	32605333	32605333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatacatctcatgagaCtgcagcaaaccacaaagttg	6	9	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:32605333C>T	ENST00000421745.2	+	3	754	c.620C>T	c.(619-621)aCt>aTt	p.T207I	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	207					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTCATGAGACTGCAGCAAAC	0.358																																					Pancreas(94;175 1509 16028 18060 45422)												0								ENSG00000115760						59	58	58					2																	32605333		2203	4300	6503	BIRC6	SO:0001583	missense	0			-	HGNC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.620C>T	2.37:g.32605333C>T	ENSP00000393596:p.Thr207Ile	Somatic	0	28	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	Q9ULD1	Missense_Mutation	SNP	50	0	0	52	14.75	9	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.T207I	ENST00000421745.2	37	c.620	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	31	5.085610	0.94100	.	.	ENSG00000115760	ENST00000421745	T	0.75260	-0.92	5.26	5.26	0.73747	.	0.057720	0.64402	D	0.000002	T	0.77089	0.4079	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.79933	-0.1594	10	0.66056	D	0.02	.	18.8712	0.92315	0.0:1.0:0.0:0.0	.	207	Q9NR09	BIRC6_HUMAN	I	207	ENSP00000393596:T207I	ENSP00000393596:T207I	T	+	2	0	BIRC6	32458837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.451000	0.82905	0.563000	0.77884	ACT	-	superfamily_WD40_repeat_dom		0.358	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	C	NM_016252	-		32605333	1	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32605333	C	T	32605333	3	4	138	1	0	0	0	0	1	0	0	0	1438	565	20	2	630	2	BIRC6	2	32605333	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	5069433	32605333	210594040	11	10303											
CNGA3	1261	genome.wustl.edu	37	chr2	99013672	99013672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagcccctggctgatgGggaagttcccggggatgcta	16	10	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:99013672G>C	ENST00000272602.2	+	7	2078	c.2039G>C	c.(2038-2040)gGg>gCg	p.G680A	CNGA3_ENST00000409937.1_Missense_Mutation_p.G684A|CNGA3_ENST00000436404.2_Missense_Mutation_p.G662A|CNGA3_ENST00000393504.1_Missense_Mutation_p.G680A			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	680					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						CTGGCTGATGGGGAAGTTCCC	0.552																																																	0								ENSG00000144191						36	38	37					2																	99013672		2202	4300	6502	CNGA3	SO:0001583	missense	0			-	HGNC	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.2039G>C	2.37:g.99013672G>C	ENSP00000272602:p.Gly680Ala	Somatic	0	17	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	26	0	0	42	32.26	20	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.G680A	ENST00000272602.2	37	c.2039	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	G	9.999	1.232935	0.22626	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97710	-4.37;-4.24;-4.37;-4.5	5.25	1.65	0.23941	.	0.522472	0.21249	N	0.077669	D	0.94228	0.8147	L	0.52364	1.645	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.81278	-0.1005	10	0.06757	T	0.87	.	11.2096	0.48790	0.0742:0.4355:0.4903:0.0	.	684;662;680	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	A	680;662;680;684	ENSP00000377140:G680A;ENSP00000410070:G662A;ENSP00000272602:G680A;ENSP00000386761:G684A	ENSP00000272602:G680A	G	+	2	0	CNGA3	98380104	0.345000	0.24835	0.000000	0.03702	0.176000	0.22953	0.913000	0.28611	0.451000	0.26802	0.563000	0.77884	GGG	-	NULL		0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	G	NM_001298	-		99013672	1	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	SNP	0.000	C	C	99013672	G	C	99013672	3	2	138	1	0	0	0	0	1	0	0	0	3600	1232	43	4	2065	4	CNGA3	2	99013672	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	66408339	99013672	144185701	12	10304											
SCN9A	6335	genome.wustl.edu	37	chr2	167159809	167159809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcccctacaattgtcttcAggcctgaaaatgggagaaaa	9	9	2	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:167159809A>G	ENST00000409435.1	-	6	691	c.692T>C	c.(691-693)cTg>cCg	p.L231P	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L232P|SCN9A_ENST00000409672.1_Missense_Mutation_p.L231P|SCN9A_ENST00000375387.4_Missense_Mutation_p.L232P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	231					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTGTCTTCAGGCCTGAAAA	0.383																																																	0								ENSG00000169432						67	66	67					2																	167159809		2195	4298	6493	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.692T>C	2.37:g.167159809A>G	ENSP00000386330:p.Leu231Pro	Somatic	0	28	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	28	0	0	36	21.74	10	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L232P	ENST00000409435.1	37	c.695	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593738	0.86953	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	5.96	5.96	0.96718	Ion transport (1);	0.000000	0.48767	D	0.000172	D	0.99691	0.9883	H	0.99675	4.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.999	D	0.97039	0.9756	10	0.87932	D	0	.	16.4282	0.83831	1.0:0.0:0.0:0.0	.	231;231;232	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	P	231;232;232;231;96;96	ENSP00000386306:L231P;ENSP00000364536:L232P;ENSP00000304748:L232P;ENSP00000386330:L231P;ENSP00000413212:L96P;ENSP00000393141:L96P	ENSP00000304748:L232P	L	-	2	0	SCN9A	166868055	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.335000	0.96500	2.274000	0.75844	0.477000	0.44152	CTG	-	pfam_Ion_trans_dom		0.383	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	A	NM_002977	-		167159809	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	1.000	G	G	167159809	A	G	167159809	3	3	138	1	0	0	0	0	1	0	0	0	13933	188	7	5	5325	5	SCN9A	2	167159809	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	68146137	167159809	76039564	13	10305											
XIRP2	129446	genome.wustl.edu	37	chr2	168099842	168099842	+	Missense_Mutation	SNP	C	C	T													agagaaaattcctgagctagCcagaggagatgtctgcacag							TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:168099842C>T	ENST00000409195.1	+	9	2029	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A425V|XIRP2_ENST00000295237.9_Missense_Mutation_p.A647V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	472					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						CCTGAGCTAGCCAGAGGAGAT	0.428																																																	0								ENSG00000163092						62	62	62					2																	168099842		1894	4119	6013	XIRP2	SO:0001583	missense	0			-	HGNC	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.1940C>T	2.37:g.168099842C>T	ENSP00000386840:p.Ala647Val	Somatic	0	41	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	50	0	0	35	32.69	17	pfam_Actin-binding_Xin_repeat	p.A647V	ENST00000409195.1	37	c.1940	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609726	0.66558	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02944	4.1;4.1;4.11	5.93	5.93	0.95920	.	0.106321	0.64402	D	0.000006	T	0.09774	0.0240	L	0.32530	0.975	0.50171	D	0.999855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.988	T	0.11518	-1.0584	10	0.46703	T	0.11	-10.18	17.2495	0.87038	0.0:0.8747:0.1253:0.0	.	472;472;425	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	647;647;425	ENSP00000386840:A647V;ENSP00000295237:A647V;ENSP00000387255:A425V	ENSP00000295237:A647V	A	+	2	0	XIRP2	167808088	0.738000	0.28186	1.000000	0.80357	0.998000	0.95712	1.476000	0.35420	2.814000	0.96858	0.655000	0.94253	GCC	-	NULL		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168099842	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	1.000	T	T	168099842	C	T	168099842	3	4	138	1	0	0	0	0	1	0	0	0	17437	739	26	2	1970	2	XIRP2	2	168099842	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	940033	168099842	75099531	14	10306	169	2									
XIRP2	129446	genome.wustl.edu	37	chr2	168099850	168099850	+	Missense_Mutation	SNP	G	G	T													ttcctgagctagccagaggaGatgtctgcacagctcggtgg							TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:168099850G>T	ENST00000409195.1	+	9	2037	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D428Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D650Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	475					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						AGCCAGAGGAGATGTCTGCAC	0.433																																																	0								ENSG00000163092						65	64	64					2																	168099850		1896	4126	6022	XIRP2	SO:0001583	missense	0			-	HGNC	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.1948G>T	2.37:g.168099850G>T	ENSP00000386840:p.Asp650Tyr	Somatic	0	41	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	48	0	0	38	32.14	18	pfam_Actin-binding_Xin_repeat	p.D650Y	ENST00000409195.1	37	c.1948	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093298	0.76756	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.17370	2.32;2.32;2.28	5.93	5.93	0.95920	.	0.048340	0.85682	D	0.000000	T	0.48624	0.1510	M	0.84683	2.71	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	T	0.51060	-0.8753	10	0.87932	D	0	-19.7607	17.2821	0.87131	0.0:0.125:0.875:0.0	.	475;475;428	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	650;650;428	ENSP00000386840:D650Y;ENSP00000295237:D650Y;ENSP00000387255:D428Y	ENSP00000295237:D650Y	D	+	1	0	XIRP2	167808096	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.558000	0.82253	2.814000	0.96858	0.655000	0.94253	GAT	-	NULL		0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381	-		168099850	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	1.000	T	T	168099850	G	T	168099850	3	4	138	1	0	0	0	0	1	0	0	0	17437	942	33	3	1978	3	XIRP2	2	168099850	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	8	168099850	75099523	15	10307	169	2									
LRP2	4036	genome.wustl.edu	37	chr2	170089920	170089920	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtttctctgtatcactcaCaatttggttgtttcgaagga	8	7	3	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:170089920C>A	ENST00000263816.3	-	30	5384		c.e30+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTATCACTCACAATTTGGTTG	0.448																																																	0								ENSG00000081479						96	89	92					2																	170089920		2203	4300	6503	LRP2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5098+1G>T	2.37:g.170089920C>A		Somatic	0	80	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	O00711|Q16215	Splice_Site	SNP	42	0	0	43	31.75	20	-	e30+1	ENST00000263816.3	37	c.5098+1	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176084	0.57692	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.957	0.86262	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169798166	0.997000	0.39634	0.905000	0.35620	0.255000	0.26057	3.712000	0.54875	2.526000	0.85167	0.650000	0.86243	.	-	-		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-	Intron	170089920	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	splice_site	SNP	0.966	A	A	170089920	C	A	170089920	5	1	138	1	0	0	0	0	0	0	1	0	8958	492	17	3	9068	3	LRP2	2	170089920	Splice_Site	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	1990070	170089920	73109453	16	10308											
WIPF1	7456	genome.wustl.edu	37	chr2	175436734	175436734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcccactggaggaggtgGtggagggggtttgtcatcca	18	7	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:175436734G>T	ENST00000392547.2	-	5	898	c.799C>A	c.(799-801)Cca>Aca	p.P267T	WIPF1_ENST00000409415.3_Missense_Mutation_p.P267T|WIPF1_ENST00000392546.2_Missense_Mutation_p.P267T|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409891.1_Missense_Mutation_p.P267T|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P267T|WIPF1_ENST00000272746.5_Missense_Mutation_p.P267T|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	267	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						GGAGGAGGTGGTGGAGGGGGT	0.652																																																	0								ENSG00000115935						21	22	22					2																	175436734		2202	4300	6502	WIPF1	SO:0001583	missense	0			-	HGNC	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.799C>A	2.37:g.175436734G>T	ENSP00000376330:p.Pro267Thr	Somatic	0	45	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	22	0	0	24	25.00	8	smart_WH2_dom,pfscan_WH2_dom	p.P267T	ENST00000392547.2	37	c.799	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967993	0.34754	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.57595	1.33;1.26;1.33;1.33;0.64;0.39	4.5	4.5	0.54988	.	0.261192	0.38164	N	0.001794	T	0.68238	0.2979	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	D;D;D;D	0.68943	0.961;0.922;0.961;0.915	T	0.71600	-0.4544	10	0.56958	D	0.05	.	16.7885	0.85580	0.0:0.0:1.0:0.0	.	267;267;267;267	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	T	267	ENSP00000376330:P267T;ENSP00000272746:P267T;ENSP00000352802:P267T;ENSP00000376329:P267T;ENSP00000386431:P267T;ENSP00000387150:P267T	ENSP00000272746:P267T	P	-	1	0	WIPF1	175144980	0.997000	0.39634	0.060000	0.19600	0.022000	0.10575	2.942000	0.49018	2.050000	0.60909	0.436000	0.28706	CCA	-	NULL		0.652	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	protein_coding	OTTHUMT00000255453.1	G	NM_003387	-		175436734	-1	no_errors	ENST00000272746	ensembl	human	known	74_37	missense	SNP	0.764	T	T	175436734	G	T	175436734	3	4	138	1	0	0	0	0	1	0	0	0	17374	1261	44	3	728	3	WIPF1	2	175436734	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	5346814	175436734	67762639	17	10309											
DYTN	391475	genome.wustl.edu	37	chr2	207564924	207564924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcacagagcacgactctctCccacgaaagttgggatctgc	11	13	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:207564924C>T	ENST00000452335.2	-	6	616	c.500G>A	c.(499-501)gGa>gAa	p.G167E	Y_RNA_ENST00000384589.1_RNA|DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	167						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACGACTCTCTCCCACGAAAGT	0.562																																																	0								ENSG00000232125						100	101	101					2																	207564924		1951	4152	6103	DYTN	SO:0001583	missense	0			-	HGNC	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.500G>A	2.37:g.207564924C>T	ENSP00000396593:p.Gly167Glu	Somatic	0	23	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29		Missense_Mutation	SNP	33	0	0	29	46.30	25	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.G167E	ENST00000452335.2	37	c.500	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715012	0.89112	.	.	ENSG00000232125	ENST00000452335	T	0.74632	-0.86	6.04	6.04	0.98038	EF-hand domain, type 2 (1);	.	.	.	.	D	0.87501	0.6193	M	0.81614	2.55	0.41605	D	0.98887	D	0.89917	1.0	D	0.97110	1.0	D	0.88036	0.2778	9	0.72032	D	0.01	-11.7199	18.7597	0.91845	0.0:1.0:0.0:0.0	.	167	A2CJ06	DYTN_HUMAN	E	167	ENSP00000396593:G167E	ENSP00000396593:G167E	G	-	2	0	DYTN	207273169	0.890000	0.30428	0.544000	0.28141	0.988000	0.76386	3.784000	0.55416	2.873000	0.98535	0.561000	0.74099	GGA	-	pfam_EF-hand_dom_typ2		0.562	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	protein_coding	OTTHUMT00000336799.1	C		-		207564924	-1	no_errors	ENST00000452335	ensembl	human	known	74_37	missense	SNP	0.959	T	T	207564924	C	T	207564924	3	4	138	1	0	0	0	0	1	0	0	0	4863	855	30	2	1264	2	DYTN	2	207564924	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	32128190	207564924	35634449	18	10310											
STK11IP	114790	genome.wustl.edu	37	chr2	220473312	220473312	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtctctccacagcggaactCtgtcgccccttgttggtgtg	12	13	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:220473312C>G	ENST00000456909.1	+	15	1701	c.1611C>G	c.(1609-1611)ctC>ctG	p.L537L	STK11IP_ENST00000295641.10_Silent_p.L548L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	548	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGAACTCTGTCGCCCCT	0.637																																																	0								ENSG00000144589						41	45	44					2																	220473312		1973	4146	6119	STK11IP	SO:0001819	synonymous_variant	0			-	HGNC	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1611C>G	2.37:g.220473312C>G		Somatic	0	45	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	23	0	0	38	17.39	8	NULL	p.L537	ENST00000456909.1	37	c.1611		2																																																																																			-	NULL		0.637	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	protein_coding	OTTHUMT00000131432.1	C	NM_052902	-		220473312	1	no_errors	ENST00000456909	ensembl	human	novel	74_37	silent	SNP	0.986	G	G	220473312	C	G	220473312	2	3	138	1	0	0	0	0	0	0	0	1	15295	900	32	4		4	STK11IP	2	220473312	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	12908388	220473312	22726061	19	10311											
IRS1	3667	genome.wustl.edu	37	chr2	227660538	227660538	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggcctgcaaatgctagCagccccgggaggtgcagggc	17	11	0	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:227660538C>G	ENST00000305123.5	-	1	3937	c.2917G>C	c.(2917-2919)Gct>Cct	p.A973P	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	973					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAAATGCTAGCAGCCCCGGGA	0.662																																																	0								ENSG00000169047						43	49	47					2																	227660538		2202	4300	6502	IRS1	SO:0001583	missense	0			-	HGNC		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2917G>C	2.37:g.227660538C>G	ENSP00000304895:p.Ala973Pro	Somatic	0	28	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67		Missense_Mutation	SNP	25	0	0	34	19.05	8	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.A973P	ENST00000305123.5	37	c.2917	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316731	0.23908	.	.	ENSG00000169047	ENST00000305123	T	0.59083	0.29	5.39	0.474	0.16768	.	0.782790	0.11189	N	0.590064	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14172	-1.0482	10	0.20046	T	0.44	-0.6831	0.3946	0.00416	0.2667:0.2974:0.13:0.3059	.	973	P35568	IRS1_HUMAN	P	973	ENSP00000304895:A973P	ENSP00000304895:A973P	A	-	1	0	IRS1	227368782	0.000000	0.05858	0.001000	0.08648	0.835000	0.47333	-1.072000	0.03434	-0.094000	0.12374	-0.150000	0.13652	GCT	-	NULL		0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	protein_coding	OTTHUMT00000256886.3	C	NM_005544	-		227660538	-1	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	SNP	0.000	G	G	227660538	C	G	227660538	3	3	138	1	0	0	0	0	1	0	0	0	7842	710	25	4	815	4	IRS1	2	227660538	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	7187226	227660538	15538835	20	10312											
SPHKAP	80309	genome.wustl.edu	37	chr2	228884539	228884539	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatccatcatggagaaataaGcatcttttggaatatacagt	7	6	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:228884539G>T	ENST00000392056.3	-	7	1077	c.1031C>A	c.(1030-1032)gCt>gAt	p.A344D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A344D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	344						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)		GGAGAAATAAGCATCTTTTGG	0.423																																																	0								ENSG00000153820						145	138	141					2																	228884539		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.1031C>A	2.37:g.228884539G>T	ENSP00000375909:p.Ala344Asp	Somatic	0	55	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	34	0	0	43	27.12	16	pfam_AKAP_110_C	p.A344D	ENST00000392056.3	37	c.1031	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	1.067	-0.670961	0.03403	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.25	3.38	0.38709	.	0.688391	0.14023	N	0.346680	T	0.22126	0.0533	M	0.62723	1.935	0.09310	N	1	D;B	0.59767	0.986;0.27	P;B	0.56343	0.796;0.079	T	0.09907	-1.0653	10	0.28530	T	0.3	.	4.7229	0.12927	0.2007:0.1952:0.6042:0.0	.	344;344	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	344	ENSP00000375909:A344D;ENSP00000339886:A344D	ENSP00000339886:A344D	A	-	2	0	SPHKAP	228592783	0.000000	0.05858	0.880000	0.34516	0.106000	0.19336	0.468000	0.22051	1.455000	0.47813	0.650000	0.86243	GCT	-	NULL		0.423	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	G	NM_030623	-		228884539	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.016	T	T	228884539	G	T	228884539	3	4	138	1	0	0	0	0	1	0	0	0	15055	971	34	3	4095	3	SPHKAP	2	228884539	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	1224001	228884539	14314834	21	10313											
SP140	11262	genome.wustl.edu	37	chr2	231152614	231152614	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctactttctcagggagaaaGagaggcaaacctggaacccg	11	10	2	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr2:231152614G>A	ENST00000392045.3	+	18	1767	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	SP140_ENST00000417495.3_Silent_p.K437K|SP140_ENST00000343805.6_Silent_p.K491K|SP140_ENST00000420434.3_Silent_p.K524K|SP140_ENST00000350136.5_Silent_p.K420K|SP140_ENST00000486687.2_Silent_p.K475K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	551					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAGGGAGAAAGAGAGGCAAAC	0.358																																																	0								ENSG00000079263						48	46	47					2																	231152614		1812	4086	5898	SP140	SO:0001819	synonymous_variant	0			-	HGNC	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1653G>A	2.37:g.231152614G>A		Somatic	0	27	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	39	0	0	28	50.88	29	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.K551	ENST00000392045.3	37	c.1653	CCDS42831.1	2																																																																																			-	NULL		0.358	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	protein_coding	OTTHUMT00000332015.1	G	NM_007237	-		231152614	1	no_errors	ENST00000392045	ensembl	human	known	74_37	silent	SNP	0.004	A	A	231152614	G	A	231152614	2	1	138	1	0	0	0	0	0	0	0	1	14970	933	33	2		2	SP140	2	231152614	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	2268075	231152614	12046759	22	10314											
GPR128	84873	genome.wustl.edu	37	chr3	100356177	100356177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagtaacagtgagtcAactcctagatgccagtgaag	10	9	1	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr3:100356177A>G	ENST00000273352.3	+	6	897	c.629A>G	c.(628-630)cAa>cGa	p.Q210R	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	210					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						ACAGTGAGTCAACTCCTAGAT	0.378																																					Pancreas(87;185 1975 7223 18722)												0								ENSG00000144820						154	136	142					3																	100356177		2203	4300	6503	GPR128	SO:0001583	missense	0			-	HGNC	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.629A>G	3.37:g.100356177A>G	ENSP00000273352:p.Gln210Arg	Somatic	0	39	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q14D94|Q86SQ2	Missense_Mutation	SNP	30	0	0	51	3.77	2	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q210R	ENST00000273352.3	37	c.629	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420056	0.83559	.	.	ENSG00000144820	ENST00000273352	T	0.41065	1.01	5.99	5.99	0.97316	.	0.000000	0.56097	D	0.000026	T	0.62853	0.2462	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64597	-0.6370	10	0.52906	T	0.07	.	12.8804	0.58014	1.0:0.0:0.0:0.0	.	210	Q96K78	GP128_HUMAN	R	210	ENSP00000273352:Q210R	ENSP00000273352:Q210R	Q	+	2	0	GPR128	101838867	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.248000	0.58760	2.293000	0.77203	0.528000	0.53228	CAA	-	NULL		0.378	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	protein_coding	OTTHUMT00000353236.1	A		-		100356177	1	no_errors	ENST00000273352	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100356177	A	G	100356177	3	3	138	1	0	0	0	0	1	0	0	0	6643	130	5	5	651	5	GPR128	3	100356177	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09		100356177	97666253	23	10315											
CLDN1	9076	genome.wustl.edu	37	chr3	190027980	190027980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgactggggtcatagGgtcatagaattcttgaacga	13	6	3	3	rs181213282		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr3:190027980G>T	ENST00000295522.3	-	3	719	c.451C>A	c.(451-453)Cct>Act	p.P151T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	151					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GGGGTCATAGGGTCATAGAAT	0.388																																																	0								ENSG00000163347						100	97	98					3																	190027980		2203	4300	6503	CLDN1	SO:0001583	missense	0			-	HGNC	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"Claudins"	2032	protein-coding gene	gene with protein product	"senescence-associated epithelial membrane protein 1"	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.451C>A	3.37:g.190027980G>T	ENSP00000295522:p.Pro151Thr	Somatic	0	38	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40		Missense_Mutation	SNP	39	0	0	54	19.40	13	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14	p.P151T	ENST00000295522.3	37	c.451	CCDS3295.1	3	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751272	0.89753	.	.	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.88896	-2.44	5.81	5.81	0.92471	.	0.224753	0.47455	D	0.000234	D	0.94810	0.8324	M	0.86573	2.825	0.58432	D	0.999994	D	0.57571	0.98	P	0.62740	0.906	D	0.95185	0.8303	10	0.87932	D	0	.	17.5687	0.87928	0.0:0.0:1.0:0.0	.	151	O95832	CLD1_HUMAN	T	151;106	ENSP00000295522:P151T	ENSP00000295522:P151T	P	-	1	0	CLDN1	191510674	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.779000	0.62375	2.759000	0.94783	0.591000	0.81541	CCT	-	pfam_PMP22/EMP/MP20/Claudin		0.388	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN1	protein_coding	OTTHUMT00000343516.2	G	NM_021101	-		190027980	-1	no_errors	ENST00000295522	ensembl	human	known	74_37	missense	SNP	0.999	T	T	190027980	G	T	190027980	3	4	138	1	0	0	0	0	1	0	0	0	3473	1232	43	3	192	3	CLDN1	3	190027980	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	89671803	190027980	7994450	24	10316											
HTT	3064	genome.wustl.edu	37	chr4	3237472	3237472	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcaccgggccatggcgGctctgggcctgatgctcacc	14	17	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:3237472G>C	ENST00000355072.5	+	63	8897	c.8752G>C	c.(8752-8754)Gct>Cct	p.A2918P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2918					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGCCATGGCGGCTCTGGGCCT	0.612																																																	0								ENSG00000197386						26	31	29					4																	3237472		2126	4239	6365	HTT	SO:0001583	missense	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8752G>C	4.37:g.3237472G>C	ENSP00000347184:p.Ala2918Pro	Somatic	0	22	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q9UQB7	Missense_Mutation	SNP	36	0	0	38	26.92	14	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A2918P	ENST00000355072.5	37	c.8752	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.221006	0.95139	.	.	ENSG00000197386	ENST00000355072	T	0.71817	-0.6	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.86487	0.1795	10	0.87932	D	0	.	17.3306	0.87262	0.0:0.0:1.0:0.0	.	2918	P42858	HD_HUMAN	P	2918	ENSP00000347184:A2918P	ENSP00000347184:A2918P	A	+	1	0	HTT	3207270	1.000000	0.71417	0.957000	0.39632	0.910000	0.53928	9.263000	0.95617	2.571000	0.86741	0.561000	0.74099	GCT	-	NULL		0.612	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	G	NM_002111	-		3237472	1	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3237472	G	C	3237472	3	2	138	1	0	0	0	0	1	0	0	0	7459	1203	42	4	9002	4	HTT	4	3237472	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		3237472	187916804	25	10317											
WFS1	7466	genome.wustl.edu	37	chr4	6293088	6293088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatgtcggccaggtcaacGagcacggtgcgaggattcac	14	10	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:6293088G>A	ENST00000226760.1	+	5	795	c.625G>A	c.(625-627)Gag>Aag	p.E209K	WFS1_ENST00000503569.1_Missense_Mutation_p.E209K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	209					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCAGGTCAACGAGCACGGTGC	0.642																																																	0								ENSG00000109501						72	68	69					4																	6293088		2201	4300	6501	WFS1	SO:0001583	missense	0			-	HGNC	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.625G>A	4.37:g.6293088G>A	ENSP00000226760:p.Glu209Lys	Somatic	0	29	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	14	0	0	36	18.18	8	NULL	p.E209K	ENST00000226760.1	37	c.625	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	G	2.739	-0.262564	0.05754	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93133	-3.17;-3.17	4.72	2.88	0.33553	.	0.537895	0.20418	N	0.092734	T	0.82079	0.4959	N	0.22421	0.69	0.25225	N	0.989874	P	0.36465	0.554	B	0.23716	0.048	T	0.70565	-0.4837	10	0.15952	T	0.53	-21.8729	5.6307	0.17508	0.2049:0.1636:0.6315:0.0	.	209	O76024	WFS1_HUMAN	K	209	ENSP00000423337:E209K;ENSP00000226760:E209K	ENSP00000226760:E209K	E	+	1	0	WFS1	6343989	0.998000	0.40836	0.996000	0.52242	0.146000	0.21551	2.200000	0.42724	0.372000	0.24591	0.561000	0.74099	GAG	-	NULL		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	protein_coding	OTTHUMT00000206863.1	G		-		6293088	1	no_errors	ENST00000226760	ensembl	human	known	74_37	missense	SNP	0.977	A	A	6293088	G	A	6293088	3	1	138	1	0	0	0	0	1	0	0	0	17367	1059	37	1	639	1	WFS1	4	6293088	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	3055616	6293088	184861188	26	10318											
BOD1L	259282	genome.wustl.edu	37	chr4	13602177	13602177	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactgggcatgggggccTcaaattcttctgtggttact	12	10	3	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:13602177T>A	ENST00000040738.5	-	10	6482	c.6347A>T	c.(6346-6348)gAg>gTg	p.E2116V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2116						nucleus (GO:0005634)	DNA binding (GO:0003677)										CATGGGGGCCTCAAATTCTTC	0.488																																																	0								ENSG00000038219						67	62	64					4																	13602177		2203	4300	6503	BOD1L1	SO:0001583	missense	0			-	HGNC	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.6347A>T	4.37:g.13602177T>A	ENSP00000040738:p.Glu2116Val	Somatic	0	40	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	35	0	0	36	33.33	18	NULL	p.E2116V	ENST00000040738.5	37	c.6347	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	16.30	3.083866	0.55861	.	.	ENSG00000038219	ENST00000040738	T	0.11821	2.74	5.5	5.5	0.81552	.	0.101382	0.43260	D	0.000590	T	0.37237	0.0996	M	0.78049	2.395	0.41630	D	0.989014	D	0.69078	0.997	D	0.66196	0.942	T	0.27157	-1.0082	10	0.87932	D	0	-7.7642	14.1665	0.65480	0.0:0.0:0.0:1.0	.	2116	Q8NFC6	BOD1L_HUMAN	V	2116	ENSP00000040738:E2116V	ENSP00000040738:E2116V	E	-	2	0	BOD1L	13211275	1.000000	0.71417	0.995000	0.50966	0.199000	0.23934	4.703000	0.61824	2.083000	0.62718	0.454000	0.30748	GAG	-	NULL		0.488	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	T	NM_148894	-		13602177	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	SNP	0.987	A	A	13602177	T	A	13602177	3	1	138	1	0	0	0	0	1	0	0	0	1483	1551	54	5	2876	5	BOD1L	4	13602177	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	7309089	13602177	177552099	27	10319											
ARAP2	116984	genome.wustl.edu	37	chr4	36166640	36166640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggattcattgaaccaaatcTtctcagctacttcataatca	4	10	5	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:36166640T>C	ENST00000303965.4	-	11	2558	c.2069A>G	c.(2068-2070)aAg>aGg	p.K690R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	690	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						GAACCAAATCTTCTCAGCTAC	0.433																																																	0								ENSG00000047365						141	138	139					4																	36166640		2203	4300	6503	ARAP2	SO:0001583	missense	0			-	HGNC	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.2069A>G	4.37:g.36166640T>C	ENSP00000302895:p.Lys690Arg	Somatic	0	33	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	31	0	0	40	21.57	11	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.K690R	ENST00000303965.4	37	c.2069	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800401	0.70567	.	.	ENSG00000047365	ENST00000303965	T	0.44083	0.93	6.17	6.17	0.99709	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.39514	1.22	0.40494	D	0.980572	B;D	0.89917	0.201;1.0	B;D	0.87578	0.17;0.998	T	0.53521	-0.8427	10	0.35671	T	0.21	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	620;690	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	R	690	ENSP00000302895:K690R	ENSP00000302895:K690R	K	-	2	0	ARAP2	35843035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAG	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP		0.433	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	T	NM_015230	-		36166640	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	1.000	C	C	36166640	T	C	36166640	3	2	138	1	0	0	0	0	1	0	0	0	839	1609	56	5	3137	5	ARAP2	4	36166640	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	22564463	36166640	154987636	28	10320											
MUC7	4589	genome.wustl.edu	37	chr4	71346984	71346984	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccacccacaccttctgcaActacaccagctccaccatct	2	22	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:71346984A>T	ENST00000304887.5	+	3	713	c.523A>T	c.(523-525)Act>Tct	p.T175S	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.T175S|MUC7_ENST00000413702.1_Missense_Mutation_p.T175S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	175	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCTTCTGCAACTACACCAGC	0.532																																																	0								ENSG00000171195						343	283	303					4																	71346984		2203	4300	6503	MUC7	SO:0001583	missense	0			-	HGNC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.523A>T	4.37:g.71346984A>T	ENSP00000302021:p.Thr175Ser	Somatic	0	137	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	102	21.54	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	28	0	0	38	24.00	12	NULL	p.T175S	ENST00000304887.5	37	c.523	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	A	8.916	0.959997	0.18507	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.57436	0.4;0.4;0.4	2.75	-5.51	0.02568	.	.	.	.	.	T	0.29491	0.0735	N	0.24115	0.695	0.09310	N	1	B	0.32573	0.376	B	0.32583	0.148	T	0.18524	-1.0334	8	.	.	.	2.9002	5.0485	0.14496	0.4337:0.0:0.4189:0.1475	.	175	Q8TAX7	MUC7_HUMAN	S	175	ENSP00000407422:T175S;ENSP00000400585:T175S;ENSP00000302021:T175S	.	T	+	1	0	MUC7	71381573	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.739000	0.04866	-1.328000	0.02261	-0.326000	0.08463	ACT	-	NULL		0.532	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	protein_coding	OTTHUMT00000252168.2	A	NM_152291	-		71346984	1	no_errors	ENST00000304887	ensembl	human	known	74_37	missense	SNP	0.000	T	T	71346984	A	T	71346984	3	4	138	1	0	0	0	0	1	0	0	0	9983	43	2	5	529	5	MUC7	4	71346984	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	35180344	71346984	119807292	29	10321											
BANK1	55024	genome.wustl.edu	37	chr4	102791783	102791783	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctattcagaatggcagattcAggagagagtttgtgccaggt	13	6	2	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:102791783A>T	ENST00000322953.4	+	5	1159	c.885A>T	c.(883-885)tcA>tcT	p.S295S	BANK1_ENST00000508653.1_Silent_p.S162S|BANK1_ENST00000504592.1_Silent_p.S280S|BANK1_ENST00000428908.1_Silent_p.S162S|BANK1_ENST00000444316.2_Silent_p.S265S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	295	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGCAGATTCAGGAGAGAGTT	0.378																																																	0								ENSG00000153064						98	85	89					4																	102791783		2203	4300	6503	BANK1	SO:0001819	synonymous_variant	0			-	HGNC	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.885A>T	4.37:g.102791783A>T		Somatic	0	46	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	35	0	0	43	30.65	19	superfamily_Ankyrin_rpt-contain_dom	p.S295	ENST00000322953.4	37	c.885	CCDS34038.1	4																																																																																			-	NULL		0.378	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	protein_coding	OTTHUMT00000363161.1	A	NM_017935	-		102791783	1	no_errors	ENST00000322953	ensembl	human	known	74_37	silent	SNP	0.000	T	T	102791783	A	T	102791783	2	4	138	1	0	0	0	0	0	0	0	1	1309	175	7	5		5	BANK1	4	102791783	Silent	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	31444799	102791783	88362493	30	10322											
NDST4	64579	genome.wustl.edu	37	chr4	115792054	115792054	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttcacaaaggtatatAaccctaggcggtcatttcca	7	11	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:115792054A>T	ENST00000264363.2	-	7	2267	c.1589T>A	c.(1588-1590)tTa>tAa	p.L530*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	530	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAAGGTATATAACCCTAGGCG	0.398																																																	0								ENSG00000138653						98	107	104					4																	115792054		2203	4300	6503	NDST4	SO:0001587	stop_gained	0			-	HGNC	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1589T>A	4.37:g.115792054A>T	ENSP00000264363:p.Leu530*	Somatic	0	27	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	Q2KHM8	Nonsense_Mutation	SNP	43	0	0	46	14.81	8	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L530*	ENST00000264363.2	37	c.1589	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	A	39	7.381311	0.98248	.	.	ENSG00000138653	ENST00000264363	.	.	.	5.2	2.79	0.32731	.	0.163459	0.40908	D	0.000993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1022	0.36676	0.8514:0.0:0.1486:0.0	.	.	.	.	X	530	.	ENSP00000264363:L530X	L	-	2	0	NDST4	116011503	0.980000	0.34600	0.117000	0.21633	0.967000	0.64934	6.252000	0.72447	0.326000	0.23384	0.459000	0.35465	TTA	-	NULL		0.398	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	A	NM_022569	-		115792054	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	nonsense	SNP	0.536	T	T	115792054	A	T	115792054	4	4	138	1	0	0	0	0	0	1	0	0	10260	372	13	5	1061	5	NDST4	4	115792054	Nonsense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	13000271	115792054	75362222	31	10323											
DDX60	55601	genome.wustl.edu	37	chr4	169227760	169227760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccactcttttgataagcAtctcgaaaatgttgttcgaa	6	10	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr4:169227760A>G	ENST00000393743.3	-	5	667	c.376T>C	c.(376-378)Tgc>Cgc	p.C126R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	126					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)			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)		TTTGATAAGCATCTCGAAAAT	0.388																																																	0								ENSG00000137628						88	91	90					4																	169227760		2203	4300	6503	DDX60	SO:0001583	missense	0			-	HGNC	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.376T>C	4.37:g.169227760A>G	ENSP00000377344:p.Cys126Arg	Somatic	0	29	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q6PK35|Q9NVE3	Missense_Mutation	SNP	24	0	0	39	27.78	15	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.C126R	ENST00000393743.3	37	c.376	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498238	0.44455	.	.	ENSG00000137628	ENST00000393743	T	0.18502	2.21	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.41627	0.1167	M	0.75264	2.295	0.58432	D	0.999997	D	0.89917	1.0	D	0.77557	0.99	T	0.24764	-1.0151	10	0.41790	T	0.15	.	14.8336	0.70166	1.0:0.0:0.0:0.0	.	126	Q8IY21	DDX60_HUMAN	R	126	ENSP00000377344:C126R	ENSP00000377344:C126R	C	-	1	0	DDX60	169464335	0.999000	0.42202	0.971000	0.41717	0.007000	0.05969	5.815000	0.69215	2.034000	0.60081	0.460000	0.39030	TGC	-	NULL		0.388	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	protein_coding	OTTHUMT00000364622.1	A	NM_017631	-		169227760	-1	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	SNP	0.990	G	G	169227760	A	G	169227760	3	3	138	1	0	0	0	0	1	0	0	0	4380	217	8	5	4898	5	DDX60	4	169227760	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	53435706	169227760	21926516	32	10324											
ADCY2	108	genome.wustl.edu	37	chr5	7820784	7820784	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaggatggacagcaccggAgtcctggacaaaatacaggt	13	8	0	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:7820784A>C	ENST00000338316.4	+	24	3194	c.3105A>C	c.(3103-3105)ggA>ggC	p.G1035G	ADCY2_ENST00000537121.1_Silent_p.G855G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1035					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACAGCACCGGAGTCCTGGACA	0.473																																																	0								ENSG00000078295						130	118	122					5																	7820784		2203	4300	6503	ADCY2	SO:0001819	synonymous_variant	0			-	HGNC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3105A>C	5.37:g.7820784A>C		Somatic	0	47	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	20	0	0	35	20.45	9	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G1035	ENST00000338316.4	37	c.3105	CCDS3872.2	5																																																																																			-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	A	NM_020546	-		7820784	1	no_errors	ENST00000338316	ensembl	human	known	74_37	silent	SNP	0.741	C	C	7820784	A	C	7820784	2	2	138	1	0	0	0	0	0	0	0	1	294	291	11	5		5	ADCY2	5	7820784	Silent	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09		7820784	173094476	33	10325											
CTNND2	1501	genome.wustl.edu	37	chr5	11236855	11236855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttgcaagtaggctgccGcgttagactggaccgaggga	17	8	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:11236855G>A	ENST00000304623.8	-	10	1898	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A233V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A479V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A570V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A137V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	570					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGCTGCCGCGTTAGACTG	0.473																																																	0								ENSG00000169862						123	126	125					5																	11236855		2203	4300	6503	CTNND2	SO:0001583	missense	0			-	HGNC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1709C>T	5.37:g.11236855G>A	ENSP00000307134:p.Ala570Val	Somatic	0	44	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	19.57	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	31	3.12	1	56	13.85	9	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A570V	ENST00000304623.8	37	c.1709	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699492	0.88830	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.75484	0.936;0.881;0.986	T	0.82914	-0.0221	10	0.87932	D	0	-11.3108	20.0734	0.97734	0.0:0.0:1.0:0.0	.	233;137;570	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	570;570;479;137;233	ENSP00000307134:A570V;ENSP00000352661:A570V;ENSP00000426510:A479V;ENSP00000391155:A137V;ENSP00000426887:A233V	ENSP00000307134:A570V	A	-	2	0	CTNND2	11289855	1.000000	0.71417	0.969000	0.41365	0.346000	0.29079	9.869000	0.99810	2.751000	0.94390	0.555000	0.69702	GCG	-	superfamily_ARM-type_fold		0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	G	NM_001332	-		11236855	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11236855	G	A	11236855	3	1	138	1	0	0	0	0	1	0	0	0	4022	1087	38	1	2020	1	CTNND2	5	11236855	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	3416071	11236855	169678405	34	10326											
SLC1A3	6507	genome.wustl.edu	37	chr5	36677165	36677165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcaatgccctgggtctaGttgtcttctccatgtgcttc	10	11	4	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:36677165G>T	ENST00000265113.4	+	6	1215	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.V247F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	247					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGGGTCTAGTTGTCTTCTC	0.488																																																	0								ENSG00000079215						176	165	169					5																	36677165		2203	4300	6503	SLC1A3	SO:0001583	missense	0			-	HGNC		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.739G>T	5.37:g.36677165G>T	ENSP00000265113:p.Val247Phe	Somatic	0	71	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	30	0	0	57	5.00	3	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V247F	ENST00000265113.4	37	c.739	CCDS3919.1	5	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795463	0.90453	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.64618	-0.11;-0.11	5.92	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.992;0.995	D	0.89850	0.4009	10	0.87932	D	0	-24.954	17.2519	0.87045	0.0:0.1256:0.8744:0.0	.	247;247	Q4JCQ8;P43003	.;EAA1_HUMAN	F	247;195;247	ENSP00000265113:V247F;ENSP00000371343:V247F	ENSP00000265113:V247F	V	+	1	0	SLC1A3	36712922	1.000000	0.71417	0.498000	0.27564	0.950000	0.60333	9.860000	0.99555	1.502000	0.48669	0.655000	0.94253	GTT	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.488	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	protein_coding	OTTHUMT00000207579.2	G	NM_004172	-		36677165	1	no_errors	ENST00000265113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36677165	G	T	36677165	3	4	138	1	0	0	0	0	1	0	0	0	14441	1029	36	3	774	3	SLC1A3	5	36677165	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	25440310	36677165	144238095	35	10327											
TNPO1	3842	genome.wustl.edu	37	chr5	72178316	72178316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgattcctgtgttagtgaatGgcatgaagtactcagacata	10	6	1	4			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:72178316G>T	ENST00000337273.5	+	10	1369	c.943G>T	c.(943-945)Ggc>Tgc	p.G315C	TNPO1_ENST00000506351.2_Missense_Mutation_p.G307C|TNPO1_ENST00000454282.1_Missense_Mutation_p.G265C|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000523768.1_Missense_Mutation_p.G265C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	315					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GTTAGTGAATGGCATGAAGTA	0.308																																																	0								ENSG00000083312						143	152	149					5																	72178316		2202	4297	6499	TNPO1	SO:0001583	missense	0			-	HGNC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.943G>T	5.37:g.72178316G>T	ENSP00000336712:p.Gly315Cys	Somatic	0	53	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	37	0	0	55	5.17	3	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G315C	ENST00000337273.5	37	c.943	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299636	0.60195	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	L	0.60012	1.86	0.80722	D	1	B;B	0.20459	0.045;0.024	B;B	0.33339	0.162;0.063	T	0.59979	-0.7352	10	0.33940	T	0.23	-7.8837	19.8609	0.96783	0.0:0.0:1.0:0.0	.	265;315	Q92973-3;Q92973	.;TNPO1_HUMAN	C	315;265;265;307	ENSP00000336712:G315C;ENSP00000398524:G265C;ENSP00000428899:G265C;ENSP00000425118:G307C	ENSP00000336712:G315C	G	+	1	0	TNPO1	72214072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.405000	0.97313	2.773000	0.95371	0.650000	0.86243	GGC	-	superfamily_ARM-type_fold		0.308	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	protein_coding	OTTHUMT00000218577.3	G	NM_002270	-		72178316	1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72178316	G	T	72178316	3	4	138	1	0	0	0	0	1	0	0	0	16342	1348	47	3	981	3	TNPO1	5	72178316	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	35501151	72178316	108736944	36	10328											
GPR98	84059	genome.wustl.edu	37	chr5	89968475	89968475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgatggcattaattAccttgttgatgactttgcta	8	6	0	4			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:89968475A>G	ENST00000405460.2	+	22	4961	c.4865A>G	c.(4864-4866)tAc>tGc	p.Y1622C	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1622	Calx-beta 11. {ECO:0000255}.				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)			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)		GGCATTAATTACCTTGTTGAT	0.408																																																	0								ENSG00000164199						200	184	189					5																	89968475		1890	4111	6001	GPR98	SO:0001583	missense	0			-	HGNC	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.4865A>G	5.37:g.89968475A>G	ENSP00000384582:p.Tyr1622Cys	Somatic	0	48	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	28	0	0	46	17.86	10	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Y1622C	ENST00000405460.2	37	c.4865	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387176	0.61956	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27256	1.68	6.07	6.07	0.98685	Na-Ca exchanger/integrin-beta4 (1);	0.443943	0.26556	N	0.023702	T	0.45994	0.1370	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.31530	-0.9940	10	0.56958	D	0.05	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1622	Q8WXG9	GPR98_HUMAN	C	1622	ENSP00000384582:Y1622C	ENSP00000296619:Y1622C	Y	+	2	0	GPR98	90004231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.577000	0.60922	2.326000	0.78906	0.533000	0.62120	TAC	-	pfam_Calx_beta		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	A	NM_032119	-		89968475	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	G	G	89968475	A	G	89968475	3	3	138	1	0	0	0	0	1	0	0	0	6723	391	14	5	4951	5	GPR98	5	89968475	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	17790159	89968475	90946785	37	10329											
RIOK2	55781	genome.wustl.edu	37	chr5	96512975	96512975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcaaattgttgtccttcttCatttgcaacaatgtaaatat	5	7	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:96512975C>T	ENST00000283109.3	-	4	411	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RIOK2_ENST00000508447.1_Missense_Mutation_p.E115K|RNU1-73P_ENST00000383971.1_RNA|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	115							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TGTCCTTCTTCATTTGCAACA	0.299																																																	0								ENSG00000058729						116	120	119					5																	96512975		2202	4299	6501	RIOK2	SO:0001583	missense	0			-	HGNC	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.343G>A	5.37:g.96512975C>T	ENSP00000283109:p.Glu115Lys	Somatic	0	39	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	D6RDI3|Q9NUT0	Missense_Mutation	SNP	44	0	0	44	41.33	31	pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase	p.E115K	ENST00000283109.3	37	c.343	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783545	0.90282	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.06933	3.24;3.24	5.62	4.75	0.60458	Protein kinase-like domain (1);RIO-like kinase (1);	0.102386	0.64402	D	0.000003	T	0.27278	0.0669	M	0.75615	2.305	0.53005	D	0.999961	P;D	0.67145	0.89;0.996	P;D	0.66979	0.649;0.948	T	0.01648	-1.1304	10	0.51188	T	0.08	-16.4628	14.3674	0.66815	0.0:0.9279:0.0:0.0721	.	115;115	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	K	115	ENSP00000283109:E115K;ENSP00000420932:E115K	ENSP00000283109:E115K	E	-	1	0	RIOK2	96538731	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.552000	0.53705	1.374000	0.46228	0.557000	0.71058	GAA	-	pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase		0.299	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	protein_coding	OTTHUMT00000250628.1	C	NM_018343	-		96512975	-1	no_errors	ENST00000283109	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96512975	C	T	96512975	3	4	138	1	0	0	0	0	1	0	0	0	13386	835	29	2	1371	2	RIOK2	5	96512975	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	6544500	96512975	84402285	38	10330											
KDM3B	51780	genome.wustl.edu	37	chr5	137756482	137756482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccactgcaaaggtctctcCgctgactccaaagcttttta	6	14	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:137756482C>T	ENST00000314358.5	+	15	4003	c.3803C>T	c.(3802-3804)cCg>cTg	p.P1268L	KDM3B_ENST00000394866.1_Missense_Mutation_p.P924L|KDM3B_ENST00000542866.1_Missense_Mutation_p.P300L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1268					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						AAGGTCTCTCCGCTGACTCCA	0.527																																																	0								ENSG00000120733						93	92	92					5																	137756482		2203	4300	6503	KDM3B	SO:0001583	missense	0			-	HGNC	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.3803C>T	5.37:g.137756482C>T	ENSP00000326563:p.Pro1268Leu	Somatic	0	34	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	50	12.28	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	31	0	0	40	16.67	8	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1268L	ENST00000314358.5	37	c.3803	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658305	0.67586	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70631	0.09;-0.5;-0.43	5.76	5.76	0.90799	.	0.209202	0.49916	D	0.000129	T	0.57755	0.2075	N	0.22421	0.69	0.52099	D	0.999947	P;P	0.48640	0.894;0.913	B;B	0.37239	0.244;0.223	T	0.64542	-0.6383	10	0.54805	T	0.06	-14.1501	18.1389	0.89631	0.0:1.0:0.0:0.0	.	924;1268	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	L	1268;1058;924;300	ENSP00000326563:P1268L;ENSP00000378335:P924L;ENSP00000439462:P300L	ENSP00000326563:P1268L	P	+	2	0	KDM3B	137784381	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.027000	0.57239	2.717000	0.92951	0.655000	0.94253	CCG	-	NULL		0.527	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	protein_coding	OTTHUMT00000373597.1	C	NM_016604	-		137756482	1	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137756482	C	T	137756482	3	4	138	1	0	0	0	0	1	0	0	0	8129	652	23	1	3861	1	KDM3B	5	137756482	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	41243507	137756482	43158778	39	10331											
PCDHB4	56131	genome.wustl.edu	37	chr5	140502563	140502563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatggaggaggcctttctgGaaaaggcactgtagtcatag	14	6	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:140502563G>T	ENST00000194152.1	+	1	983	c.983G>T	c.(982-984)gGa>gTa	p.G328V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	328	Cadherin 3. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCTTTCTGGAAAAGGCACT	0.418																																																	0								ENSG00000081818						165	179	174					5																	140502563		2203	4300	6503	PCDHB4	SO:0001583	missense	0			-	HGNC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.983G>T	5.37:g.140502563G>T	ENSP00000194152:p.Gly328Val	Somatic	0	15	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q4V761	Missense_Mutation	SNP	28	0	0	47	12.96	7	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G328V	ENST00000194152.1	37	c.983	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508572	0.44660	.	.	ENSG00000081818	ENST00000194152	T	0.55413	0.52	4.41	4.41	0.53225	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.73705	0.3621	M	0.85462	2.755	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.77384	-0.2608	9	0.56958	D	0.05	.	13.4541	0.61189	0.0:0.2701:0.7299:0.0	.	328	Q9Y5E5	PCDB4_HUMAN	V	328	ENSP00000194152:G328V	ENSP00000194152:G328V	G	+	2	0	PCDHB4	140482747	0.010000	0.17322	0.994000	0.49952	0.990000	0.78478	1.202000	0.32271	2.449000	0.82847	0.650000	0.86243	GGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.418	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	G	NM_018938	-		140502563	1	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	SNP	0.879	T	T	140502563	G	T	140502563	3	4	138	1	0	0	0	0	1	0	0	0	11546	1174	41	3	985	3	PCDHB4	5	140502563	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	2746081	140502563	40412697	40	10332											
CSF1R	1436	genome.wustl.edu	37	chr5	149450109	149450109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcagagggcttcaggcGgggcagagagagggtgaagg	20	7	2	4			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:149450109G>A	ENST00000286301.3	-	8	1399	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CSF1R_ENST00000543093.1_Silent_p.P305P	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	370	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.R370fs*2(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCTTCAGGCGGGGCAGAGAG	0.597																																																	2	Deletion - Frameshift(2)	large_intestine(2)						ENSG00000182578						23	23	23					5																	149450109		2170	4224	6394	CSF1R	SO:0001583	missense	0			-	HGNC	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1108C>T	5.37:g.149450109G>A	ENSP00000286301:p.Arg370Cys	Somatic	0	62	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.41	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	19	0	0	47	28.79	19	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R370C	ENST00000286301.3	37	c.1108	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804253	0.90623	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.28895	1.59	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.116516	0.39146	N	0.001459	T	0.56396	0.1982	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.98	T	0.59241	-0.7491	10	0.87932	D	0	.	15.0575	0.71925	0.0:0.0:1.0:0.0	.	222;370	B4E2Y8;P07333	.;CSF1R_HUMAN	C	370;222	ENSP00000286301:R370C	ENSP00000286301:R370C	R	-	1	0	CSF1R	149430302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.561000	0.67339	2.628000	0.89032	0.561000	0.74099	CGC	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	protein_coding	OTTHUMT00000252329.2	G	NM_005211	-		149450109	-1	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	SNP	1.000	A	A	149450109	G	A	149450109	3	1	138	1	0	0	0	0	1	0	0	0	3934	1116	39	1	1870	1	CSF1R	5	149450109	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	8947546	149450109	31465151	41	10333											
RBM22	55696	genome.wustl.edu	37	chr5	150078185	150078185	+	Frame_Shift_Del	DEL	G	G	-													cgaaacactgtgaatggcctGgcacagatctggaacacaaa					rs551467808		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr5:150078185delG	ENST00000199814.4	-	4	268	c.147delC	c.(145-147)gccfs	p.A49fs	RBM22_ENST00000540000.1_Intron|RBM22_ENST00000447771.2_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	49					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATGGCCTGGCACAGATCT	0.478																																																	0								ENSG00000086589						76	72	73					5																	150078185		2203	4300	6503	RBM22	SO:0001589	frameshift_variant	0				HGNC	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.147delC	5.37:g.150078185delG	ENSP00000199814:p.Ala49fs	Somatic	0	37	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A6NDM5|B4DLI9|O95607	Frame_Shift_Del	DEL	26	0	0	46	17.86	10	pfam_RRM_dom,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R50fs	ENST00000199814.4	37	c.147	CCDS34278.1	5																																																																																			-	superfamily_Znf_CCHC		0.478	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM22	protein_coding	OTTHUMT00000374431.2	G	NM_018047			150078185	-1	no_errors	ENST00000199814	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	150078185	G	-	150078185	7	5	138	1	0	1	0	1	0	0	0	0	13130	1335	47	0	1147	0	RBM22	5	150078185	Frame_Shift_Del	DEL	G	TCGA-FX-A3RE-01A-11D-A228-09	628076	150078185	30837075	42	10334											
TFAP2A	7020	genome.wustl.edu	37	chr6	10400725	10400725	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcacttgctcattgggAtcggaatgttgtcggttgag	13	7	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:10400725A>T	ENST00000482890.1	-	7	1333	c.981T>A	c.(979-981)gaT>gaA	p.D327E	TFAP2A_ENST00000319516.4_Missense_Mutation_p.D323E|TFAP2A_ENST00000379604.2_Missense_Mutation_p.D327E|TFAP2A_ENST00000379608.3_Missense_Mutation_p.D321E|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.D329E			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	327	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCTCATTGGGATCGGAATGTT	0.473																																																	0								ENSG00000137203						162	144	150					6																	10400725		2203	4300	6503	TFAP2A	SO:0001583	missense	0			-	HGNC	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.981T>A	6.37:g.10400725A>T	ENSP00000418541:p.Asp327Glu	Somatic	0	43	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	25	0	0	60	15.49	11	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.D327E	ENST00000482890.1	37	c.981	CCDS4510.1	6	.	.	.	.	.	.	.	.	.	.	A	13.20	2.166035	0.38217	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04	5.29	5.29	0.74685	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92355	0.7574	N	0.22421	0.69	0.80722	D	1	P;P;D	0.59357	0.78;0.625;0.985	B;B;P	0.60068	0.386;0.192;0.868	D	0.90218	0.4269	10	0.13853	T	0.58	-6.5309	9.7177	0.40284	0.9226:0.0:0.0774:0.0	.	323;327;321	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	E	329;327;323;321;327	ENSP00000368933:D329E;ENSP00000368924:D327E;ENSP00000316516:D323E;ENSP00000368928:D321E;ENSP00000418541:D327E	ENSP00000316516:D323E	D	-	3	2	TFAP2A	10508711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.210000	0.51129	1.995000	0.58328	0.533000	0.62120	GAT	-	pfam_TF_AP2_C		0.473	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	protein_coding	OTTHUMT00000353619.2	A	NM_003220	-		10400725	-1	no_errors	ENST00000379604	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10400725	A	T	10400725	3	4	138	1	0	0	0	0	1	0	0	0	15794	330	12	5	340	5	TFAP2A	6	10400725	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09		10400725	160714342	43	10335											
DNAH8	1769	genome.wustl.edu	37	chr6	38746237	38746237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcttcagctacttcAaaggtattcataacacttta	6	10	4	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:38746237A>G	ENST00000359357.3	+	12	1639	c.1385A>G	c.(1384-1386)cAa>cGa	p.Q462R	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q462R|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q679R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	462					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGCTACTTCAAAGGTATTCA	0.303																																																	0								ENSG00000124721						67	72	70					6																	38746237		2203	4297	6500	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1385A>G	6.37:g.38746237A>G	ENSP00000352312:p.Gln462Arg	Somatic	0	39	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	39	0	0	49	7.55	4	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q462R	ENST00000359357.3	37	c.1385		6	.	.	.	.	.	.	.	.	.	.	A	9.231	1.035924	0.19590	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55588	0.51;0.51;0.51	5.24	5.24	0.73138	Dynein heavy chain, domain-1 (1);	0.071961	0.56097	D	0.000037	T	0.15305	0.0369	N	0.05078	-0.115	0.40792	D	0.983264	B	0.10296	0.003	B	0.14023	0.01	T	0.10800	-1.0614	10	0.15952	T	0.53	.	13.7236	0.62745	1.0:0.0:0.0:0.0	.	462	Q96JB1	DYH8_HUMAN	R	667;667;462;462	ENSP00000333363:Q667R;ENSP00000352312:Q462R;ENSP00000402294:Q462R	ENSP00000333363:Q667R	Q	+	2	0	DNAH8	38854215	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.449000	0.73473	1.983000	0.57843	0.455000	0.32223	CAA	-	pfam_Dynein_heavy_dom-1		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	A	NM_001206927	-		38746237	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38746237	A	G	38746237	3	3	138	1	0	0	0	0	1	0	0	0	4609	130	5	5	1423	5	DNAH8	6	38746237	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	28345512	38746237	132368830	44	10336											
PHF3	23469	genome.wustl.edu	37	chr6	64422019	64422019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatagagaaaacagataAtgtggaagtaactgatggtg	11	2	0	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:64422019A>G	ENST00000262043.3	+	16	4875	c.4535A>G	c.(4534-4536)aAt>aGt	p.N1512S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1512S			Q92576	PHF3_HUMAN	PHD finger protein 3	1512					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAACAGATAATGTGGAAGTA	0.328																																					GBM(135;136 1820 29512 34071 46235)												0								ENSG00000118482						46	48	48					6																	64422019		2201	4297	6498	PHF3	SO:0001583	missense	0			-	HGNC	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4535A>G	6.37:g.64422019A>G	ENSP00000262043:p.Asn1512Ser	Somatic	0	28	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	39	0	0	48	20.00	12	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.N1512S	ENST00000262043.3	37	c.4535	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184498	0.01620	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.40756	1.02;2.34;2.34	5.93	-1.49	0.08718	.	0.753768	0.11301	N	0.578188	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36792	-0.9733	10	0.32370	T	0.25	-4.1794	5.5532	0.17101	0.3121:0.4864:0.0726:0.1289	.	1512	Q92576	PHF3_HUMAN	S	781;1512;1512	ENSP00000425338:N781S;ENSP00000262043:N1512S;ENSP00000377048:N1512S	ENSP00000262043:N1512S	N	+	2	0	PHF3	64479978	0.098000	0.21812	0.055000	0.19348	0.011000	0.07611	0.713000	0.25794	-0.110000	0.12022	0.459000	0.35465	AAT	-	NULL		0.328	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	protein_coding	OTTHUMT00000041086.2	A		-		64422019	1	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	SNP	0.000	G	G	64422019	A	G	64422019	3	3	138	1	0	0	0	0	1	0	0	0	11838	101	4	5	4593	5	PHF3	6	64422019	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	25675782	64422019	106693048	45	10337											
PRSS35	167681	genome.wustl.edu	37	chr6	84234250	84234250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagacaaaaagaattggaagCgcaaaatcattgcggtctac	9	8	2	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:84234250C>G	ENST00000369700.3	+	2	1267	c.1090C>G	c.(1090-1092)Cgc>Ggc	p.R364G	PRSS35_ENST00000536636.1_Missense_Mutation_p.R364G	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	364	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)		GAATTGGAAGCGCAAAATCAT	0.512																																																	0								ENSG00000146250						79	76	77					6																	84234250		2203	4300	6503	PRSS35	SO:0001583	missense	0			-	HGNC	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.1090C>G	6.37:g.84234250C>G	ENSP00000358714:p.Arg364Gly	Somatic	0	26	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	A8K7B3|Q9BQP6	Missense_Mutation	SNP	28	0	0	35	31.37	16	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.R364G	ENST00000369700.3	37	c.1090	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579383	0.65878	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.26810	1.71;1.71	5.91	4.99	0.66335	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45086	-0.9285	10	0.87932	D	0	-24.5883	13.7183	0.62712	0.2695:0.7305:0.0:0.0	.	364	Q8N3Z0	PRS35_HUMAN	G	364	ENSP00000440870:R364G;ENSP00000358714:R364G	ENSP00000358714:R364G	R	+	1	0	PRSS35	84290969	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.248000	0.43160	2.804000	0.96469	0.462000	0.41574	CGC	-	superfamily_Trypsin-like_Pept_dom		0.512	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	protein_coding	OTTHUMT00000041352.1	C	NM_153362	-		84234250	1	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	SNP	1.000	G	G	84234250	C	G	84234250	3	3	138	1	0	0	0	0	1	0	0	0	12629	768	27	4	1092	4	PRSS35	6	84234250	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	19812231	84234250	86880817	46	10338											
GABRR1	2569	genome.wustl.edu	37	chr6	89890035	89890035	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcccgcagcttctgttccttCctctcctgcacagtggtcag	8	16	3	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:89890035C>G	ENST00000454853.2	-	9	1232	c.1122G>C	c.(1120-1122)agG>agC	p.R374S	GABRR1_ENST00000369451.3_Missense_Mutation_p.R287S|GABRR1_ENST00000435811.1_Missense_Mutation_p.R357S	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	374					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)			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)	TCTGTTCCTTCCTCTCCTGCA	0.557																																																	0								ENSG00000146276						136	98	111					6																	89890035		2203	4300	6503	GABRR1	SO:0001583	missense	0			-	HGNC		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.1122G>C	6.37:g.89890035C>G	ENSP00000412673:p.Arg374Ser	Somatic	0	63	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	61	19.74	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	25	0	0	38	33.33	19	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.R374S	ENST00000454853.2	37	c.1122	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933632	0.52866	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.83992	-1.79;-1.79;-1.79	5.25	1.17	0.20885	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	L	0.52364	1.645	0.53005	D	0.999966	P;P	0.41848	0.534;0.763	B;P	0.46208	0.373;0.507	T	0.65191	-0.6228	9	.	.	.	-9.6682	7.4892	0.27452	0.0:0.4581:0.3986:0.1433	.	357;374	P24046-2;P24046	.;GBRR1_HUMAN	S	374;357;287;287	ENSP00000412673:R374S;ENSP00000394687:R357S;ENSP00000358463:R287S	.	R	-	3	2	GABRR1	89946754	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	0.771000	0.26633	0.198000	0.20407	-0.312000	0.09012	AGG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.557	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	C		-		89890035	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	SNP	1.000	G	G	89890035	C	G	89890035	3	3	138	1	0	0	0	0	1	0	0	0	6178	854	30	4	325	4	GABRR1	6	89890035	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	5655785	89890035	81225032	47	10339											
PHACTR2	9749	genome.wustl.edu	37	chr6	144104390	144104390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacaagaagcaaaaatGgaacttaaacgcagactcag	10	7	1	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:144104390G>A	ENST00000427704.2	+	10	1777	c.1647G>A	c.(1645-1647)atG>atA	p.M549I	PHACTR2_ENST00000367582.3_Missense_Mutation_p.M480I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.M537I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.M469I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.M560I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	549							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAGCAAAAATGGAACTTAAAC	0.303																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0								ENSG00000112419						65	66	66					6																	144104390		1968	4141	6109	PHACTR2	SO:0001583	missense	0			-	HGNC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1647G>A	6.37:g.144104390G>A	ENSP00000391763:p.Met549Ile	Somatic	0	24	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	35	0	0	42	16.00	8	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.M560I	ENST00000427704.2	37	c.1680	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037694	0.75617	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.30182	1.54;1.97;1.56;1.97;1.56	6.16	6.16	0.99307	.	0.173187	0.64402	D	0.000005	T	0.19127	0.0459	N	0.14661	0.345	0.80722	D	1	P;P;D;P	0.53745	0.901;0.744;0.962;0.877	P;B;P;B	0.54499	0.754;0.359;0.496;0.32	T	0.02691	-1.1123	10	0.54805	T	0.06	.	10.3	0.43646	0.1786:0.0:0.8214:0.0	.	560;469;480;549	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	537;549;469;560;480	ENSP00000356556:M537I;ENSP00000391763:M549I;ENSP00000305530:M469I;ENSP00000417038:M560I;ENSP00000356554:M480I	ENSP00000305530:M469I	M	+	3	0	PHACTR2	144146083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.087000	0.41653	2.937000	0.99478	0.650000	0.86243	ATG	-	NULL		0.303	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	protein_coding	OTTHUMT00000042528.2	G	NM_014721	-		144104390	1	no_errors	ENST00000440869	ensembl	human	known	74_37	missense	SNP	1.000	A	A	144104390	G	A	144104390	3	1	138	1	0	0	0	0	1	0	0	0	11812	1348	47	2	1735	2	PHACTR2	6	144104390	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	54214355	144104390	27010677	48	10340											
SASH1	23328	genome.wustl.edu	37	chr6	148869496	148869496	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtgcatttcgtctgtGtcagattggctcatttccat	10	10	3	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr6:148869496G>T	ENST00000367467.3	+	20	4021	c.3546G>T	c.(3544-3546)gtG>gtT	p.V1182V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1182	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TTTCGTCTGTGTCAGATTGGC	0.517																																																	0								ENSG00000111961						128	124	126					6																	148869496		2203	4300	6503	SASH1	SO:0001819	synonymous_variant	0			-	HGNC	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3546G>T	6.37:g.148869496G>T		Somatic	0	48	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	34	0	0	27	47.06	24	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.V1182	ENST00000367467.3	37	c.3546	CCDS5212.1	6																																																																																			-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.517	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	protein_coding	OTTHUMT00000042619.1	G	NM_015278	-		148869496	1	no_errors	ENST00000367467	ensembl	human	known	74_37	silent	SNP	1.000	T	T	148869496	G	T	148869496	2	4	138	1	0	0	0	0	0	0	0	1	13856	1364	48	3		3	SASH1	6	148869496	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	4765106	148869496	22245571	49	10341											
CHST12	55501	genome.wustl.edu	37	chr7	2473042	2473042	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgatctccgccttccgCagcaagttcgagctggagaa	11	14	1	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr7:2473042C>A	ENST00000258711.6	+	2	903	c.768C>A	c.(766-768)cgC>cgA	p.R256R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	256					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCGCCTTCCGCAGCAAGTTCG	0.632																																																	0								ENSG00000136213						75	65	68					7																	2473042		2203	4297	6500	CHST12	SO:0001819	synonymous_variant	0			-	HGNC	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.768C>A	7.37:g.2473042C>A		Somatic	0	34	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	23	0	0	32	20.00	8	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.R256	ENST00000258711.6	37	c.768	CCDS5333.1	7																																																																																			-	pfam_Sulfotransferase,superfamily_P-loop_NTPase		0.632	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	protein_coding	OTTHUMT00000060170.3	C	NM_018641	-		2473042	1	no_errors	ENST00000258711	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2473042	C	A	2473042	2	1	138	1	0	0	0	0	0	0	0	1	3402	697	25	3		3	CHST12	7	2473042	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		2473042	156665621	50	10342											
TMEM106B	54664	genome.wustl.edu	37	chr7	12271553	12271553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagaaacacaacttaTcagttggggcagtctgaata	11	6	2	2	rs151183990		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr7:12271553T>C	ENST00000396667.3	+	9	1099	c.777T>C	c.(775-777)taT>taC	p.Y259Y	TMEM106B_ENST00000396668.3_Silent_p.Y259Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	259					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACACAACTTATCAGTTGGGGC	0.358													T|||	1	0.000199681	8e-04	0	5008	,	,		16729	0		0	False		,,,				2504	0																0								ENSG00000106460	T	,	4,4402	8.1+/-20.4	0,4,2199	86	79	81		777,777	-3.1	1	7	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMEM106B	NM_001134232.1,NM_018374.3	,	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	,	259/275,259/275	12271553	4,13002	2203	4300	6503	TMEM106B	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.777T>C	7.37:g.12271553T>C		Somatic	0	30	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	A4D108|Q53FL9|Q8N4L0	Silent	SNP	40	0	0	24	53.85	28	pfam_DUF1356_TMEM106	p.Y259	ENST00000396667.3	37	c.777	CCDS5358.1	7																																																																																			-	NULL		0.358	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106B	protein_coding	OTTHUMT00000246870.3	T	NM_018374	rs151183990		12271553	1	no_errors	ENST00000396667	ensembl	human	known	74_37	silent	SNP	0.982	C	C	12271553	T	C	12271553	2	2	138	1	0	0	0	0	0	0	0	1	16028	1442	50	5		5	TMEM106B	7	12271553	Silent	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	9798511	12271553	146867110	51	10343											
PCLO	27445	genome.wustl.edu	37	chr7	82545573	82545573	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggtacaaagtttgttgcTcaaaatgagactgttgagtg	12	4	1	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr7:82545573T>A	ENST00000333891.9	-	7	12066	c.11729A>T	c.(11728-11730)gAg>gTg	p.E3910V	PCLO_ENST00000423517.2_Missense_Mutation_p.E3910V|PCLO_ENST00000437081.1_Missense_Mutation_p.E630V	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						AGTTTGTTGCTCAAAATGAGA	0.458																																																	0								ENSG00000186472						434	431	432					7																	82545573		2026	4174	6200	PCLO	SO:0001583	missense	0			-	HGNC	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.11729A>T	7.37:g.82545573T>A	ENSP00000334319:p.Glu3910Val	Somatic	0	147	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	93	149	38.43		Missense_Mutation	SNP	28	0	0	65	32.29	31	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E3910V	ENST00000333891.9	37	c.11729	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762961	0.31228	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16073	2.37;2.37	5.51	5.51	0.81932	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.26746	N	0.970286	B;B;B	0.22211	0.011;0.066;0.066	B;B;B	0.22753	0.014;0.041;0.041	T	0.21965	-1.0230	9	0.87932	D	0	.	14.1918	0.65644	0.0:0.0:0.0:1.0	.	3841;3910;3910	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	3910;3910;630	ENSP00000334319:E3910V;ENSP00000388393:E3910V	ENSP00000334319:E3910V	E	-	2	0	PCLO	82383509	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.382000	0.66213	2.105000	0.64084	0.460000	0.39030	GAG	-	NULL		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	T	NM_014510	-		82545573	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82545573	T	A	82545573	3	1	138	1	0	0	0	0	1	0	0	0	11585	1551	54	5	3792	5	PCLO	7	82545573	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	70274020	82545573	76593090	52	10344											
LRRC17	10234	genome.wustl.edu	37	chr7	102584860	102584860	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattttaatggcctggaaTgcaaaacgcctgaagaatac	8	9	0	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr7:102584860T>G	ENST00000339431.4	+	4	1427	c.1132T>G	c.(1132-1134)Tgc>Ggc	p.C378G	LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	378	LRRCT 2.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGGCCTGGAATGCAAAACGCC	0.413																																																	0								ENSG00000128606						114	108	110					7																	102584860		2203	4300	6503	LRRC17	SO:0001583	missense	0			-	HGNC	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1132T>G	7.37:g.102584860T>G	ENSP00000344242:p.Cys378Gly	Somatic	0	43	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	46.15	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	34	0	0	50	41.18	35	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.C378G	ENST00000339431.4	37	c.1132	CCDS34721.1	7	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754100	0.69648	.	.	ENSG00000128606	ENST00000339431	D	0.84070	-1.8	5.79	5.79	0.91817	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.84857	0.5565	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	D	0.87075	0.2162	10	0.87932	D	0	-24.8155	16.1303	0.81428	0.0:0.0:0.0:1.0	.	378	Q8N6Y2	LRC17_HUMAN	G	378	ENSP00000344242:C378G	ENSP00000344242:C378G	C	+	1	0	LRRC17	102372096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.218000	0.71995	0.533000	0.62120	TGC	-	smart_Cys-rich_flank_reg_C		0.413	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	protein_coding	OTTHUMT00000347930.1	T	NM_005824	-		102584860	1	no_errors	ENST00000339431	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102584860	T	G	102584860	3	3	138	1	0	0	0	0	1	0	0	0	8975	1464	51	5	1160	5	LRRC17	7	102584860	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	20039287	102584860	56553803	53	10345											
FAM71F1	84691	genome.wustl.edu	37	chr7	128356956	128356956	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcggtaccctgcctgcccctCcccaacatcctactcatggc	6	20	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr7:128356956C>A	ENST00000315184.5	+	2	392	c.339C>A	c.(337-339)ctC>ctA	p.L113L	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.P35T	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	113										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GCCTGCCCCTCCCCAACATCC	0.567																																																	0								ENSG00000135248						102	81	89					7																	128356956		2203	4300	6503	FAM71F1	SO:0001819	synonymous_variant	0			-	HGNC	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.339C>A	7.37:g.128356956C>A		Somatic	0	24	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	Q8IY75|Q8NA48	Missense_Mutation	SNP	22	0	0	40	44.44	32	pfam_DUF3699	p.P35T	ENST00000315184.5	37	c.103	CCDS5804.1	7	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532617	0.64972	.	.	ENSG00000135248	ENST00000485070	T	0.27104	1.69	5.54	-2.4	0.06583	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.80722	D	1	B;B	0.29481	0.245;0.149	B;B	0.35182	0.197;0.098	T	0.16100	-1.0414	8	0.87932	D	0	-13.164	11.0674	0.47982	0.0:0.5951:0.0:0.4049	.	38;35	B4DY15;Q8NA48	.;.	T	35	ENSP00000418192:P35T	ENSP00000418192:P35T	P	+	1	0	FAM71F1	128144192	0.945000	0.32115	0.990000	0.47175	0.972000	0.66771	-0.418000	0.07080	-0.435000	0.07264	-0.469000	0.05056	CCC	-	NULL		0.567	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71F1	protein_coding	OTTHUMT00000350544.2	C	NM_032599	-		128356956	1	no_errors	ENST00000485070	ensembl	human	putative	74_37	missense	SNP	0.988	A	A	128356956	C	A	128356956	2	1	138	1	0	0	0	0	0	0	0	1	5614	842	30	3		3	FAM71F1	7	128356956	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	25772096	128356956	30781707	54	10346											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68179642	68179642	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgagctggtagaagtTtccaaaatgtataagaaaat	8	4	1	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr8:68179642T>G	ENST00000262215.3	-	11	1997	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	ARFGEF1_ENST00000520381.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	536					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTAGAAGTTTCCAAAATGT	0.289																																																	0								ENSG00000066777						51	57	55					8																	68179642		2198	4294	6492	ARFGEF1	SO:0001583	missense	0			-	HGNC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1608A>C	8.37:g.68179642T>G	ENSP00000262215:p.Glu536Asp	Somatic	0	33	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	14	53.33	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	44	0	0	29	47.27	26	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.E536D	ENST00000262215.3	37	c.1608	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867756	0.32977	.	.	ENSG00000066777	ENST00000262215	T	0.47528	0.84	5.64	1.79	0.24919	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58020	-0.7710	10	0.45353	T	0.12	.	9.3593	0.38186	0.0:0.2139:0.0:0.7861	.	536	Q9Y6D6	BIG1_HUMAN	D	536	ENSP00000262215:E536D	ENSP00000262215:E536D	E	-	3	2	ARFGEF1	68342196	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	3.003000	0.49505	0.064000	0.16427	-0.911000	0.02809	GAA	-	superfamily_ARM-type_fold		0.289	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	protein_coding	OTTHUMT00000379441.4	T	NM_006421	-		68179642	-1	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	SNP	1.000	G	G	68179642	T	G	68179642	3	3	138	1	0	0	0	0	1	0	0	0	852	1838	64	5	4057	5	ARFGEF1	8	68179642	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09		68179642	78184380	55	10347											
FAM135B	51059	genome.wustl.edu	37	chr8	139164708	139164708	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaccccggatagcacTgagagttcctcctgctcttc	9	13	1	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr8:139164708T>A	ENST00000395297.1	-	13	2180	c.2010A>T	c.(2008-2010)tcA>tcT	p.S670S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	670										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGATAGCACTGAGAGTTCCT	0.527										HNSCC(54;0.14)																																							0								ENSG00000147724						89	88	88					8																	139164708		1916	4124	6040	FAM135B	SO:0001819	synonymous_variant	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2010A>T	8.37:g.139164708T>A		Somatic	0	45	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.28	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	18	0	0	49	9.26	5	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S670	ENST00000395297.1	37	c.2010	CCDS6375.2	8																																																																																			-	NULL		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	T	NM_015912	-		139164708	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	SNP	0.000	A	A	139164708	T	A	139164708	2	1	138	1	0	0	0	0	0	0	0	1	5451	1567	55	5		5	FAM135B	8	139164708	Silent	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	70985066	139164708	7199314	56	10348											
CPSF1	29894	genome.wustl.edu	37	chr8	145621845	145621845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaatatcctcgaagtagcGgaaacgcgccacgcggcccc	10	14	0	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr8:145621845G>A	ENST00000349769.3	-	25	2888	c.2794C>T	c.(2794-2796)Cgc>Tgc	p.R932C	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	932					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCGAAGTAGCGGAAACGCGCC	0.612																																					NSCLC(133;1088 1848 27708 34777 35269)												0								ENSG00000071894						53	68	63					8																	145621845		2202	4298	6500	CPSF1	SO:0001583	missense	0			-	HGNC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2794C>T	8.37:g.145621845G>A	ENSP00000339353:p.Arg932Cys	Somatic	0	24	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	5	75.00	Q96AF0	Missense_Mutation	SNP	27	0	0	14	71.43	35	pfam_Cleavage/polyA-sp_fac_asu_C	p.R932C	ENST00000349769.3	37	c.2794	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	g	22.7	4.329124	0.81690	.	.	ENSG00000071894	ENST00000349769	T	0.51071	0.72	5.41	5.41	0.78517	.	0.061993	0.64402	N	0.000005	T	0.67420	0.2891	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.70718	-0.4795	10	0.72032	D	0.01	-3.5553	14.7178	0.69284	0.0:0.0:1.0:0.0	.	932	Q10570	CPSF1_HUMAN	C	932	ENSP00000339353:R932C	ENSP00000339353:R932C	R	-	1	0	CPSF1	145592653	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.731000	0.55013	2.555000	0.86185	0.479000	0.44913	CGC	-	NULL		0.612	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	protein_coding	OTTHUMT00000382422.2	G	NM_013291	-		145621845	-1	no_errors	ENST00000349769	ensembl	human	known	74_37	missense	SNP	1.000	A	A	145621845	G	A	145621845	3	1	138	1	0	0	0	0	1	0	0	0	3826	1116	39	1	1593	1	CPSF1	8	145621845	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	6457137	145621845	742177	57	10349											
NFIB	4781	genome.wustl.edu	37	chr9	14120501	14120501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcttcagagtatcctgagGattcaggtggggaggatatc	14	6	3	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr9:14120501G>A	ENST00000380959.3	-	8	1656	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	NFIB_ENST00000543693.1_Missense_Mutation_p.P143S|NFIB_ENST00000397579.2_Missense_Mutation_p.P395S|NFIB_ENST00000397575.3_Missense_Mutation_p.P395S|NFIB_ENST00000397581.2_Missense_Mutation_p.P395S|NFIB_ENST00000380953.1_Missense_Mutation_p.P395S|NFIB_ENST00000380934.4_Missense_Mutation_p.P421S|NFIB_ENST00000380924.1_Missense_Mutation_p.P143S	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	395					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTATCCTGAGGATTCAGGTGG	0.453			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0								ENSG00000147862						231	221	224					9																	14120501		2203	4300	6503	NFIB	SO:0001583	missense	0			-	HGNC	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1183C>T	9.37:g.14120501G>A	ENSP00000370346:p.Pro395Ser	Somatic	0	108	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	39	42.65	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	32	0	0	20	45.95	17	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.P395S	ENST00000380959.3	37	c.1183	CCDS6474.1	9	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685278	0.68157	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.76212	0.3956	L	0.50333	1.59	0.80722	D	1	B;D;D;D	0.69078	0.43;0.975;0.997;0.988	B;P;D;D	0.79108	0.252;0.731;0.992;0.986	T	0.75468	-0.3307	10	0.52906	T	0.07	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	395;395;395;143	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	S	421;395;395;395;395;395;143;143	ENSP00000370321:P421S;ENSP00000370346:P395S;ENSP00000370340:P395S;ENSP00000380705:P395S;ENSP00000380711:P395S;ENSP00000380709:P395S;ENSP00000442888:P143S;ENSP00000370311:P143S	ENSP00000370311:P143S	P	-	1	0	NFIB	14110501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.180000	0.77674	2.679000	0.91253	0.650000	0.86243	CCT	-	pfam_CTF/NFI		0.453	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	protein_coding	OTTHUMT00000055468.1	G	NM_005596	-		14120501	-1	no_errors	ENST00000397581	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14120501	G	A	14120501	3	1	138	1	0	0	0	0	1	0	0	0	10373	1174	41	2	87	2	NFIB	9	14120501	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		14120501	127092930	58	10350											
TMEM2	23670	genome.wustl.edu	37	chr9	74319671	74319671	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggacggatactcatctcGtgtaatggtcatagaaagat	11	6	3	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr9:74319671G>A	ENST00000377044.4	-	18	3573	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	TMEM2_ENST00000396272.3_Nonsense_Mutation_p.R5*|TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R949*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1012					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TACTCATCTCGTGTAATGGTC	0.423																																																	0								ENSG00000135048						122	100	108					9																	74319671		2203	4300	6503	TMEM2	SO:0001587	stop_gained	0			-	HGNC		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3034C>T	9.37:g.74319671G>A	ENSP00000366243:p.Arg1012*	Somatic	0	41	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	37	0	0	48	20.00	12	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.R1012*	ENST00000377044.4	37	c.3034	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822219	0.90873	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6845	0.69040	0.0:0.0:0.8549:0.1451	.	.	.	.	X	1012;949;5;41;113	.	ENSP00000366242:R113X	R	-	1	2	TMEM2	73509491	1.000000	0.71417	0.912000	0.35992	0.359000	0.29487	5.706000	0.68362	2.699000	0.92147	0.561000	0.74099	CGA	-	NULL		0.423	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	protein_coding	OTTHUMT00000052618.2	G	NM_013390	-		74319671	-1	no_errors	ENST00000377044	ensembl	human	known	74_37	nonsense	SNP	0.995	A	A	74319671	G	A	74319671	4	1	138	1	0	0	0	0	0	1	0	0	16128	1153	40	1	1145	1	TMEM2	9	74319671	Nonsense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	60199170	74319671	66893760	59	10351											
C5	727	genome.wustl.edu	37	chr9	123722535	123722535	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgaactcaccatatgcaaTctctggtttacatgctgttt	6	9	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr9:123722535T>A	ENST00000223642.1	-	38	4698	c.4669A>T	c.(4669-4671)Att>Ttt	p.I1557F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1557	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)	CCATATGCAATCTCTGGTTTA	0.333																																																	0								ENSG00000106804						156	134	142					9																	123722535		2203	4300	6503	C5	SO:0001583	missense	0			-	HGNC	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.4669A>T	9.37:g.123722535T>A	ENSP00000223642:p.Ile1557Phe	Somatic	0	38	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q14CJ0|Q27I61	Missense_Mutation	SNP	36	0	0	37	41.27	26	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.I1557F	ENST00000223642.1	37	c.4669	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833586	0.71258	.	.	ENSG00000106804	ENST00000223642	T	0.58506	0.33	5.92	4.78	0.61160	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.152084	0.64402	D	0.000013	T	0.73071	0.3540	M	0.84433	2.695	0.33231	D	0.555946	D	0.58970	0.984	P	0.60541	0.876	T	0.81856	-0.0740	10	0.72032	D	0.01	.	8.7495	0.34607	0.0:0.0851:0.0:0.9149	.	1557	P01031	CO5_HUMAN	F	1557	ENSP00000223642:I1557F	ENSP00000223642:I1557F	I	-	1	0	C5	122762356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.429000	0.59901	1.062000	0.40625	0.533000	0.62120	ATT	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.333	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	protein_coding	OTTHUMT00000053844.1	T	NM_001735	-		123722535	-1	no_errors	ENST00000223642	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123722535	T	A	123722535	3	1	138	1	0	0	0	0	1	0	0	0	2282	1435	50	5	377	5	C5	9	123722535	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	49402864	123722535	17490896	60	10352											
GLE1	2733	genome.wustl.edu	37	chr9	131296042	131296042	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctatgttctcagaaAcaaggcgaggaggaagtggc	12	10	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr9:131296042A>G	ENST00000309971.4	+	11	1564	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Silent_p.K486K|GLE1_ENST00000539582.1_Silent_p.K232K	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	486					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GTTCTCAGAAACAAGGCGAGG	0.507																																																	0								ENSG00000119392						92	97	95					9																	131296042		2203	4300	6503	GLE1	SO:0001819	synonymous_variant	0			-	HGNC	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1458A>G	9.37:g.131296042A>G		Somatic	0	62	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	29	0	0	61	8.96	6	pfam_GLE1	p.K486	ENST00000309971.4	37	c.1458	CCDS35154.1	9																																																																																			-	pfam_GLE1		0.507	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	protein_coding	OTTHUMT00000054456.1	A	NM_001003722	-		131296042	1	no_errors	ENST00000309971	ensembl	human	known	74_37	silent	SNP	1.000	G	G	131296042	A	G	131296042	2	3	138	1	0	0	0	0	0	0	0	1	6437	40	2	5		5	GLE1	9	131296042	Silent	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	7573507	131296042	9917389	61	10353											
CRAT	1384	genome.wustl.edu	37	chr9	131862186	131862186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagggtgacaatagggggCccctccgctgcagcatgctc	14	12	0	2	rs374221134		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr9:131862186C>T	ENST00000318080.2	-	8	1338	c.1044G>A	c.(1042-1044)ggG>ggA	p.G348G	CRAT_ENST00000464290.1_5'Flank|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	348					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAATAGGGGGCCCCTCCGCTG	0.582																																																	0								ENSG00000095321	C		0,4406		0,0,2203	90	79	83		1044	-7.4	0.8	9		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CRAT	NM_000755.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		348/627	131862186	1,13005	2203	4300	6503	CRAT	SO:0001819	synonymous_variant	0			-	HGNC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1044G>A	9.37:g.131862186C>T		Somatic	0	49	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	Q5T952|Q9BW16	Silent	SNP	29	0	0	46	14.81	8	pfam_Carn_acyl_trans	p.G348	ENST00000318080.2	37	c.1044	CCDS6919.1	9																																																																																			-	pfam_Carn_acyl_trans		0.582	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	protein_coding	OTTHUMT00000253700.1	C		-		131862186	-1	no_errors	ENST00000318080	ensembl	human	known	74_37	silent	SNP	0.275	T	T	131862186	C	T	131862186	2	4	138	1	0	0	0	0	0	0	0	1	3849	726	26	2		2	CRAT	9	131862186	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	566144	131862186	9351245	62	10354											
ANK3	288	genome.wustl.edu	37	chr10	61932115	61932115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttcagggtgtccactactGagatgtagccgaggcgccgg	14	11	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr10:61932115G>A	ENST00000280772.2	-	21	2620	c.2429C>T	c.(2428-2430)tCa>tTa	p.S810L	ANK3_ENST00000373827.2_Missense_Mutation_p.S804L|ANK3_ENST00000503366.1_Missense_Mutation_p.S793L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	810					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)			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						GTCCACTACTGAGATGTAGCC	0.483																																																	0								ENSG00000151150						124	115	118					10																	61932115		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.2429C>T	10.37:g.61932115G>A	ENSP00000280772:p.Ser810Leu	Somatic	0	41	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	9	67.86	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	29	0	0	11	73.17	30	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S810L	ENST00000280772.2	37	c.2429	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.285386	0.95517	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.25749	2.33;1.78;1.78	5.78	5.78	0.91487	Ankyrin repeat-containing domain (3);	0.000000	0.33382	N	0.004964	T	0.44265	0.1285	L	0.34521	1.04	0.80722	D	1	B;D;D;D;D	0.89917	0.379;0.994;1.0;1.0;1.0	B;D;D;D;D	0.91635	0.171;0.974;0.994;0.999;0.997	T	0.32561	-0.9902	10	0.87932	D	0	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	793;471;354;804;810	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	L	810;804;793;772;45;471;466;354	ENSP00000280772:S810L;ENSP00000362933:S804L;ENSP00000425236:S793L	ENSP00000280772:S810L	S	-	2	0	ANK3	61602121	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	9.799000	0.99117	2.730000	0.93505	0.650000	0.86243	TCA	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61932115	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61932115	G	A	61932115	3	1	138	1	0	0	0	0	1	0	0	0	622	1294	45	2	11129	2	ANK3	10	61932115	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		61932115	73602632	63	10355											
OR4A5	81318	genome.wustl.edu	37	chr11	51412386	51412386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgtaatattgttatTctgtctcatttactcttctt	3	7	5	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr11:51412386T>A	ENST00000319760.6	-	1	62	c.10A>T	c.(10-12)Aat>Tat	p.N4Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATATTGTTATTCTGTCTCATT	0.388																																																	0								ENSG00000221840						22	21	21					11																	51412386		2197	4289	6486	OR4A5	SO:0001583	missense	0			-	HGNC	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.10A>T	11.37:g.51412386T>A	ENSP00000367664:p.Asn4Tyr	Somatic	0	18	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q6IF84	Missense_Mutation	SNP	31	0	0	40	35.48	22	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N4Y	ENST00000319760.6	37	c.10	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	4.342	0.062993	0.08388	.	.	ENSG00000221840	ENST00000319760	T	0.00518	6.86	2.0	0.844	0.18943	.	0.384197	0.21974	N	0.066411	T	0.00356	0.0011	L	0.33339	1.005	0.09310	N	1	B	0.33212	0.402	B	0.32211	0.142	T	0.49428	-0.8941	10	0.66056	D	0.02	.	5.2415	0.15473	0.0:0.1672:0.0:0.8328	.	4	Q8NH83	OR4A5_HUMAN	Y	4	ENSP00000367664:N4Y	ENSP00000367664:N4Y	N	-	1	0	OR4A5	51268962	0.000000	0.05858	0.014000	0.15608	0.166000	0.22503	0.212000	0.17497	0.236000	0.21180	0.136000	0.15936	AAT	-	NULL		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	protein_coding	OTTHUMT00000391399.1	T	NM_001005272	-		51412386	-1	no_errors	ENST00000319760	ensembl	human	known	74_37	missense	SNP	0.129	A	A	51412386	T	A	51412386	3	1	138	1	0	0	0	0	1	0	0	0	11045	1783	62	5	941	5	OR4A5	11	51412386	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09		51412386	83594130	64	10356											
P2RX3	5024	genome.wustl.edu	37	chr11	57135558	57135558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttggcatccgcttcgaCgtgctggtatacgggaatgt	13	9	0	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr11:57135558C>T	ENST00000263314.2	+	9	952	c.918C>T	c.(916-918)gaC>gaT	p.D306D		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	306					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TCCGCTTCGACGTGCTGGTAT	0.567																																																	0								ENSG00000109991						84	80	81					11																	57135558		2201	4296	6497	P2RX3	SO:0001819	synonymous_variant	0			-	HGNC	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.918C>T	11.37:g.57135558C>T		Somatic	0	35	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	Q6DK37|Q9UQB6	Silent	SNP	36	0	0	29	46.30	25	pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.D306	ENST00000263314.2	37	c.918	CCDS7953.1	11																																																																																			-	pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor		0.567	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX3	protein_coding	OTTHUMT00000392465.1	C	NM_002559	-		57135558	1	no_errors	ENST00000263314	ensembl	human	known	74_37	silent	SNP	0.782	T	T	57135558	C	T	57135558	2	4	138	1	0	0	0	0	0	0	0	1	11343	535	19	1		1	P2RX3	11	57135558	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	5723172	57135558	77870958	65	10357											
MUS81	80198	genome.wustl.edu	37	chr11	65633285	65633285	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacccctgccccccagcctCctggccgcctatgatgcctg	8	20	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr11:65633285C>T	ENST00000308110.4	+	15	1858	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L	MUS81_ENST00000533035.1_Silent_p.L428L|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	503					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCCCCAGCCTCCTGGCCGCCT	0.612								Homologous recombination																																									0								ENSG00000172732						70	78	75					11																	65633285		2201	4296	6497	MUS81	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1509C>T	11.37:g.65633285C>T		Somatic	0	26	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q9H7D9	Silent	SNP	30	0	0	43	15.69	8	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain	p.L503	ENST00000308110.4	37	c.1509	CCDS8115.1	11																																																																																			-	NULL		0.612	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	protein_coding	OTTHUMT00000390941.3	C	NM_025128	-		65633285	1	no_errors	ENST00000308110	ensembl	human	known	74_37	silent	SNP	0.966	T	T	65633285	C	T	65633285	2	4	138	1	0	0	0	0	0	0	0	1	9990	842	30	2		2	MUS81	11	65633285	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	8497727	65633285	69373231	66	10358											
KCNA1	3736	genome.wustl.edu	37	chr12	5021875	5021875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagtgacctcagtcgccGcagttcctctactatgagca	9	13	2	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr12:5021875G>A	ENST00000382545.3	+	2	2438	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	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)	444					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.R444H(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)	CTCAGTCGCCGCAGTTCCTCT	0.468																																																	1	Substitution - Missense(1)	NS(1)						ENSG00000111262						200	197	198					12																	5021875		2203	4300	6503	KCNA1	SO:0001583	missense	0			-	HGNC	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.1331G>A	12.37:g.5021875G>A	ENSP00000371985:p.Arg444His	Somatic	0	28	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50	A6NM83|Q3MIQ9	Missense_Mutation	SNP	25	0	0	33	44.07	26	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.R444H	ENST00000382545.3	37	c.1331	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218385	0.58560	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96491	-4.03	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	L	0.49126	1.545	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	D	0.90960	0.4812	10	0.56958	D	0.05	.	18.5892	0.91202	0.0:0.0:1.0:0.0	.	444	Q09470	KCNA1_HUMAN	H	444	ENSP00000371985:R444H	ENSP00000228858:R444H	R	+	2	0	KCNA1	4892136	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGC	-	prints_K_chnl_volt-dep_Kv1.1		0.468	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	protein_coding	OTTHUMT00000103343.2	G	NM_000217	-		5021875	1	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5021875	G	A	5021875	3	1	138	1	0	0	0	0	1	0	0	0	8003	1087	38	1	1333	1	KCNA1	12	5021875	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		5021875	128830020	67	10359											
C3AR1	719	genome.wustl.edu	37	chr12	8211888	8211888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattgctagaagcgctAgggaacagctttaaatgagt	12	5	0	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr12:8211888A>G	ENST00000307637.4	-	2	1097	c.894T>C	c.(892-894)ccT>ccC	p.P298P		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	298					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAGAAGCGCTAGGGAACAGCT	0.438																																																	0								ENSG00000171860						109	111	111					12																	8211888		2203	4300	6503	C3AR1	SO:0001819	synonymous_variant	0			-	HGNC	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.894T>C	12.37:g.8211888A>G		Somatic	0	24	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	O43771|Q92868	Silent	SNP	29	0	0	41	31.67	19	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.P298	ENST00000307637.4	37	c.894	CCDS8588.1	12																																																																																			-	pfscan_GPCR_Rhodpsn_7TM		0.438	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	protein_coding	OTTHUMT00000400254.1	A		-		8211888	-1	no_errors	ENST00000307637	ensembl	human	known	74_37	silent	SNP	0.000	G	G	8211888	A	G	8211888	2	3	138	1	0	0	0	0	0	0	0	1	2207	407	15	5		5	C3AR1	12	8211888	Silent	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	3190013	8211888	125640007	68	10360											
KRT76	51350	genome.wustl.edu	37	chr12	53164948	53164948	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcattggcgtccttgAgggccatctctccacgctgc	12	14	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr12:53164948A>T	ENST00000332411.2	-	7	1372	c.1319T>A	c.(1318-1320)cTc>cAc	p.L440H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	440	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGTCCTTGAGGGCCATCTC	0.537																																																	0								ENSG00000185069						158	140	146					12																	53164948		2203	4300	6503	KRT76	SO:0001583	missense	0			-	HGNC	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1319T>A	12.37:g.53164948A>T	ENSP00000330101:p.Leu440His	Somatic	0	74	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	63	23.17	B4DRR3|Q7Z795	Missense_Mutation	SNP	27	0	0	40	16.67	8	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L440H	ENST00000332411.2	37	c.1319	CCDS8838.1	12	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666186	0.88251	.	.	ENSG00000185069	ENST00000332411	D	0.84589	-1.87	5.13	5.13	0.70059	Filament (1);	0.178548	0.27096	N	0.020952	D	0.94640	0.8272	H	0.95294	3.65	0.53005	D	0.999962	D	0.89917	1.0	D	0.97110	1.0	D	0.96142	0.9101	10	0.87932	D	0	.	15.6444	0.77036	1.0:0.0:0.0:0.0	.	440	Q01546	K22O_HUMAN	H	440	ENSP00000330101:L440H	ENSP00000330101:L440H	L	-	2	0	KRT76	51451215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.523000	0.81856	2.234000	0.73211	0.533000	0.62120	CTC	-	pfam_IF,prints_Keratin_II		0.537	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	protein_coding	OTTHUMT00000405928.1	A	NM_015848	-		53164948	-1	no_errors	ENST00000332411	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53164948	A	T	53164948	3	4	138	1	0	0	0	0	1	0	0	0	8491	304	11	5	609	5	KRT76	12	53164948	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	44953060	53164948	80686947	69	10361											
VPS37B	79720	genome.wustl.edu	37	chr12	123351947	123351947	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccactggcctctggggcagGgtagggaaggggggcggtag	21	9	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr12:123351947G>C	ENST00000267202.2	-	4	955	c.574C>G	c.(574-576)Cct>Gct	p.P192A	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	192	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TCTGGGGCAGGGTAGGGAAGG	0.716																																																	0								ENSG00000139722						20	25	23					12																	123351947		2197	4284	6481	VPS37B	SO:0001583	missense	0			-	HGNC	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.574C>G	12.37:g.123351947G>C	ENSP00000267202:p.Pro192Ala	Somatic	0	16	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93		Missense_Mutation	SNP	14	0	0	17	26.09	6	pfam_Mod_r	p.P192A	ENST00000267202.2	37	c.574	CCDS9239.1	12	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278064	0.10403	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.59364	0.27;0.31	5.03	3.2	0.36748	.	0.492695	0.23235	N	0.050417	T	0.51770	0.1694	M	0.67953	2.075	0.32457	N	0.544562	B	0.12630	0.006	B	0.08055	0.003	T	0.55256	-0.8169	10	0.37606	T	0.19	-9.8141	8.6452	0.34000	0.0859:0.1533:0.7609:0.0	.	192	Q9H9H4	VP37B_HUMAN	A	192;190	ENSP00000267202:P192A;ENSP00000446075:P190A	ENSP00000267202:P192A	P	-	1	0	VPS37B	121917900	0.998000	0.40836	0.943000	0.38184	0.119000	0.20118	1.471000	0.35365	0.512000	0.28257	-0.165000	0.13383	CCT	-	NULL		0.716	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37B	protein_coding	OTTHUMT00000400946.1	G	NM_024667	-		123351947	-1	no_errors	ENST00000267202	ensembl	human	known	74_37	missense	SNP	0.960	C	C	123351947	G	C	123351947	3	2	138	1	0	0	0	0	1	0	0	0	17213	1232	43	4	287	4	VPS37B	12	123351947	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	70186999	123351947	10499948	70	10362											
P2RX2	22953	genome.wustl.edu	37	chr12	133197082	133197082	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcgctgcacgttccaCgaggcctccgacctctactg	10	16	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr12:133197082C>G	ENST00000389110.3	+	7	724	c.687C>G	c.(685-687)caC>caG	p.H229Q	P2RX2_ENST00000351222.4_Missense_Mutation_p.H137Q|P2RX2_ENST00000348800.5_Missense_Mutation_p.H229Q|P2RX2_ENST00000352418.4_Missense_Mutation_p.H157Q|P2RX2_ENST00000343948.4_Missense_Mutation_p.H229Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.H205Q|P2RX2_ENST00000449132.2_Missense_Mutation_p.R194G	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	229					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCACGTTCCACGAGGCCTCCG	0.632																																																	0								ENSG00000187848						75	69	71					12																	133197082		2203	4300	6503	P2RX2	SO:0001583	missense	0			-	HGNC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.687C>G	12.37:g.133197082C>G	ENSP00000373762:p.His229Gln	Somatic	0	30	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	39	0	0	36	21.74	10	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.H229Q	ENST00000389110.3	37	c.687	CCDS31931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.34|13.34	2.208118|2.208118	0.39003|0.39003	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800|ENST00000449132	T;T;T;T;T;T|T	0.04360|0.10382	3.64;3.64;3.64;3.64;3.64;3.64|2.88	5.58|5.58	-6.47|-6.47	0.01902|0.01902	.|.	0.639773|.	0.16229|.	N|.	0.223691|.	T|T	0.11410|0.11410	0.0278|0.0278	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	P;P;P;P;P;P;P|B	0.52577|0.13594	0.691;0.923;0.954;0.626;0.769;0.8;0.642|0.008	B;B;P;B;B;B;B|B	0.49012|0.08055	0.338;0.304;0.598;0.31;0.228;0.338;0.152|0.003	T|T	0.30679|0.30679	-0.9970|-0.9970	10|9	0.62326|0.24483	D|T	0.03|0.36	-7.3192|-7.3192	11.7302|11.7302	0.51732|0.51732	0.0:0.6676:0.0999:0.2325|0.0:0.6676:0.0999:0.2325	.|.	229;137;157;205;229;229;229|194	Q32MC3;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|Q9UBL9-7	.;.;.;.;.;P2RX2_HUMAN;.|.	Q|G	229;229;157;205;137;229|194	ENSP00000373762:H229Q;ENSP00000343339:H229Q;ENSP00000341419:H157Q;ENSP00000343904:H205Q;ENSP00000344502:H137Q;ENSP00000345095:H229Q|ENSP00000405531:R194G	ENSP00000343339:H229Q|ENSP00000405531:R194G	H|R	+|+	3|1	2|2	P2RX2|P2RX2	131707155|131707155	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.085000|0.085000	0.17905|0.17905	-1.985000|-1.985000	0.01485|0.01485	-1.177000|-1.177000	0.02744|0.02744	-0.266000|-0.266000	0.10368|0.10368	CAC|CGA	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.632	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	protein_coding	OTTHUMT00000397542.1	C		-		133197082	1	no_errors	ENST00000343948	ensembl	human	known	74_37	missense	SNP	0.000	G	G	133197082	C	G	133197082	3	3	138	1	0	0	0	0	1	0	0	0	11342	535	19	4	713	4	P2RX2	12	133197082	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	9845135	133197082	654813	71	10363											
WDFY2	115825	genome.wustl.edu	37	chr13	52277758	52277758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattgtcagaagattataaCaagatgactcctgtgaaaaa	7	5	1	5			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr13:52277758C>T	ENST00000298125.5	+	4	486	c.306C>T	c.(304-306)aaC>aaT	p.N102N		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	102							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AAGATTATAACAAGATGACTC	0.323																																																	0								ENSG00000139668						48	50	50					13																	52277758		2203	4299	6502	WDFY2	SO:0001819	synonymous_variant	0			-	HGNC	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.306C>T	13.37:g.52277758C>T		Somatic	0	48	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	B1AL86|Q96CS1	Silent	SNP	28	0	0	18	41.94	13	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N102	ENST00000298125.5	37	c.306	CCDS9429.1	13																																																																																			-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.323	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	protein_coding	OTTHUMT00000045985.3	C	NM_052950	-		52277758	1	no_errors	ENST00000298125	ensembl	human	known	74_37	silent	SNP	1.000	T	T	52277758	C	T	52277758	2	4	138	1	0	0	0	0	0	0	0	1	17276	477	17	2		2	WDFY2	13	52277758	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		52277758	62892120	72	10364											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113213664	113213664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctgcgtgggtcctcaCtgaggctcagcaagaggtag	15	11	2	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr13:113213664C>T	ENST00000261965.3	-	4	488	c.302G>A	c.(301-303)aGt>aAt	p.S101N	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S101N	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	101					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGGGTCCTCACTGAGGCTCAG	0.458																																																	0								ENSG00000126216						72	68	69					13																	113213664		2203	4300	6503	TUBGCP3	SO:0001583	missense	0			-	HGNC	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.302G>A	13.37:g.113213664C>T	ENSP00000261965:p.Ser101Asn	Somatic	0	51	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	37	0	0	12	69.23	27	pfam_TUBGCP	p.S101N	ENST00000261965.3	37	c.302	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678481	0.88542	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.33865	1.39;1.44	5.47	5.47	0.80525	.	0.127830	0.64402	D	0.000001	T	0.62780	0.2456	M	0.78049	2.395	0.38552	D	0.949476	D;D;D	0.76494	0.999;0.984;0.985	D;P;P	0.68353	0.957;0.806;0.677	T	0.67082	-0.5760	10	0.54805	T	0.06	-27.3927	19.4137	0.94687	0.0:1.0:0.0:0.0	.	101;101;101	Q96CW5-3;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	N	101	ENSP00000261965:S101N;ENSP00000364821:S101N	ENSP00000261965:S101N	S	-	2	0	TUBGCP3	112261665	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.024000	0.64090	2.581000	0.87130	0.638000	0.83543	AGT	-	NULL		0.458	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	protein_coding	OTTHUMT00000045825.2	C	NM_006322	-		113213664	-1	no_errors	ENST00000261965	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113213664	C	T	113213664	3	4	138	1	0	0	0	0	1	0	0	0	16774	565	20	2	2497	2	TUBGCP3	13	113213664	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	60935906	113213664	1956214	73	10365											
NPAS3	64067	genome.wustl.edu	37	chr14	34243561	34243561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgattcacataacaggcCggctacgcctgagagtgtcg	13	10	1	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr14:34243561C>T	ENST00000356141.4	+	8	871	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	NPAS3_ENST00000551492.1_Missense_Mutation_p.R296W|NPAS3_ENST00000346562.2_Missense_Mutation_p.R259W|NPAS3_ENST00000548645.1_Missense_Mutation_p.R261W|NPAS3_ENST00000357798.5_Missense_Mutation_p.R278W			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	291					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CATAACAGGCCGGCTACGCCT	0.483																																																	0								ENSG00000151322						112	96	102					14																	34243561		2203	4300	6503	NPAS3	SO:0001583	missense	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.871C>T	14.37:g.34243561C>T	ENSP00000348460:p.Arg291Trp	Somatic	0	55	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	20.41	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	29	0	0	37	19.57	9	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.R291W	ENST00000356141.4	37	c.871	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966730	0.74131	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.79	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.982;0.992;0.992	T	0.62478	-0.6846	10	0.87932	D	0	.	14.2703	0.66147	0.3762:0.6238:0.0:0.0	.	261;291;259;278	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	W	268;296;259;261;291;278	ENSP00000448373:R268W;ENSP00000450392:R296W;ENSP00000319610:R259W;ENSP00000448916:R261W;ENSP00000348460:R291W;ENSP00000350446:R278W	ENSP00000319610:R259W	R	+	1	2	NPAS3	33313312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.659000	0.54489	1.440000	0.47531	0.655000	0.94253	CGG	-	NULL		0.483	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	C		-		34243561	1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34243561	C	T	34243561	3	4	138	1	0	0	0	0	1	0	0	0	10566	643	23	1	956	1	NPAS3	14	34243561	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		34243561	73105979	74	10366											
EML5	161436	genome.wustl.edu	37	chr14	89202895	89202895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctcgccaacacacacTccttacagacaaacctagta	4	16	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr14:89202895T>A	ENST00000380664.5	-	7	861	c.862A>T	c.(862-864)Agt>Tgt	p.S288C	EML5_ENST00000554922.1_Missense_Mutation_p.S288C|EML5_ENST00000352093.5_Missense_Mutation_p.S288C			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	288						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAACACACACTCCTTACAGAC	0.368																																																	0								ENSG00000165521						115	110	112					14																	89202895		1860	4087	5947	EML5	SO:0001583	missense	0			-	HGNC	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.862A>T	14.37:g.89202895T>A	ENSP00000370039:p.Ser288Cys	Somatic	0	36	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	22.22	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	31	0	0	42	10.64	5	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S288C	ENST00000380664.5	37	c.862	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371468	0.82573	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01505	4.82;4.82;4.97	5.15	5.15	0.70609	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	0.09555	0.0235	M	0.77820	2.39	0.58432	D	0.999997	D	0.71674	0.998	D	0.64595	0.927	T	0.01382	-1.1369	10	0.51188	T	0.08	-20.6239	15.1382	0.72586	0.0:0.0:0.0:1.0	.	288	Q05BV3	EMAL5_HUMAN	C	288	ENSP00000451998:S288C;ENSP00000298315:S288C;ENSP00000370039:S288C	ENSP00000298315:S288C	S	-	1	0	EML5	88272648	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.525000	0.81892	2.166000	0.68216	0.533000	0.62120	AGT	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	protein_coding	OTTHUMT00000410491.1	T		-		89202895	-1	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89202895	T	A	89202895	3	1	138	1	0	0	0	0	1	0	0	0	5102	1551	54	5	5219	5	EML5	14	89202895	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	54959334	89202895	18146645	75	10367											
TC2N	123036	genome.wustl.edu	37	chr14	92278695	92278695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggagtttcttgtgtccTgggttgaatgtaagataact	12	4	1	3	rs138961717		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr14:92278695T>C	ENST00000435962.2	-	3	585	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	TC2N_ENST00000340892.5_Missense_Mutation_p.R88G|TC2N_ENST00000556018.1_Missense_Mutation_p.R88G|TC2N_ENST00000360594.5_Missense_Mutation_p.R88G	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	88					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCTTGTGTCCTGGGTTGAATG	0.348																																																	0								ENSG00000165929						116	104	108					14																	92278695		2203	4300	6503	TC2N	SO:0001583	missense	0			-	HGNC	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.262A>G	14.37:g.92278695T>C	ENSP00000387882:p.Arg88Gly	Somatic	0	65	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61		Missense_Mutation	SNP	45	0	0	44	15.38	8	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R88G	ENST00000435962.2	37	c.262	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993484	0.54041	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.17370	3.2;3.2;3.2;2.28	5.4	2.81	0.32909	.	0.254342	0.44285	D	0.000479	T	0.14743	0.0356	L	0.50333	1.59	0.39000	D	0.959331	B;P	0.36282	0.277;0.546	B;B	0.29267	0.079;0.1	T	0.09907	-1.0653	10	0.87932	D	0	-10.9103	11.6477	0.51271	0.0:0.0:0.2817:0.7183	.	88;88	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	G	88	ENSP00000387882:R88G;ENSP00000343199:R88G;ENSP00000353802:R88G;ENSP00000451317:R88G	ENSP00000343199:R88G	R	-	1	2	TC2N	91348448	0.923000	0.31300	0.979000	0.43373	0.654000	0.38779	1.837000	0.39201	0.846000	0.35142	0.533000	0.62120	AGG	-	NULL		0.348	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	protein_coding	OTTHUMT00000411778.1	T	NM_152332	-		92278695	-1	no_errors	ENST00000340892	ensembl	human	known	74_37	missense	SNP	0.954	C	C	92278695	T	C	92278695	3	2	138	1	0	0	0	0	1	0	0	0	15672	1579	55	5	1250	5	TC2N	14	92278695	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	3075800	92278695	15070845	76	10368											
INF2	64423	genome.wustl.edu	37	chr14	105178793	105178793	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caacctggagatcatccgctCagaggccagctccaacctga	9	15	2	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr14:105178793C>G	ENST00000392634.4	+	17	2625	c.2513C>G	c.(2512-2514)tCa>tGa	p.S838*	INF2_ENST00000330634.7_Nonsense_Mutation_p.S838*	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	838	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ATCATCCGCTCAGAGGCCAGC	0.647																																																	0								ENSG00000203485						30	33	32					14																	105178793		1973	4153	6126	INF2	SO:0001587	stop_gained	0			-	HGNC	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2513C>G	14.37:g.105178793C>G	ENSP00000376410:p.Ser838*	Somatic	0	77	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	42	44.74	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Nonsense_Mutation	SNP	32	0	0	37	33.93	19	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.S838*	ENST00000392634.4	37	c.2513	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	36	5.750667	0.96890	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	.	.	.	4.46	3.57	0.40892	.	0.322034	0.30528	N	0.009433	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5912	0.45310	0.0:0.9095:0.0:0.0905	.	.	.	.	X	838	.	ENSP00000252527:S306X	S	+	2	0	INF2	104249838	0.138000	0.22547	0.070000	0.20053	0.993000	0.82548	4.383000	0.59600	0.863000	0.35553	0.491000	0.48974	TCA	-	pfam_FH2_Formin,smart_FH2_Formin		0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	protein_coding	OTTHUMT00000074371.4	C	NM_022489	-		105178793	1	no_errors	ENST00000392634	ensembl	human	known	74_37	nonsense	SNP	0.120	G	G	105178793	C	G	105178793	4	3	138	1	0	0	0	0	0	1	0	0	7736	838	29	4	2579	4	INF2	14	105178793	Nonsense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	12900098	105178793	2170747	77	10369											
HERC2	8924	genome.wustl.edu	37	chr15	28380807	28380807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtccctccaatgcctagtCtgccacctgcaccataccca	5	19	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr15:28380807C>T	ENST00000261609.7	-	79	12155	c.12047G>A	c.(12046-12048)aGa>aAa	p.R4016K		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)		AATGCCTAGTCTGCCACCTGC	0.408																																																	0								ENSG00000128731						66	61	62					15																	28380807		2203	4300	6503	HERC2	SO:0001583	missense	0			-	HGNC	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.12047G>A	15.37:g.28380807C>T	ENSP00000261609:p.Arg4016Lys	Somatic	0	22	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14		Missense_Mutation	SNP	34	0	0	42	20.75	11	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.R4016K	ENST00000261609.7	37	c.12047	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.461719	0.96240	.	.	ENSG00000128731	ENST00000261609	D	0.85484	-1.99	5.36	5.36	0.76844	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.76838	2.35	0.58432	D	0.999997	P	0.38280	0.625	P	0.47346	0.544	D	0.90460	0.4445	10	0.66056	D	0.02	.	19.4526	0.94873	0.0:1.0:0.0:0.0	.	4016	O95714	HERC2_HUMAN	K	4016	ENSP00000261609:R4016K	ENSP00000261609:R4016K	R	-	2	0	HERC2	26054402	0.982000	0.34865	0.989000	0.46669	0.996000	0.88848	7.762000	0.85270	2.670000	0.90874	0.563000	0.77884	AGA	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667	-		28380807	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28380807	C	T	28380807	3	4	138	1	0	0	0	0	1	0	0	0	7060	913	32	2	2517	2	HERC2	15	28380807	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		28380807	74150585	78	10370											
SERINC4	619189	genome.wustl.edu	37	chr15	44088358	44088358	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctctttatcctcacctgaaActcatagctgtaaaccttga	5	12	3	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr15:44088358A>T	ENST00000319327.6	-	9	1369	c.1135T>A	c.(1135-1137)Ttt>Att	p.F379I	SERINC4_ENST00000249714.3_Missense_Mutation_p.F135I|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000299969.6_Missense_Mutation_p.S304R|HYPK_ENST00000406925.1_5'UTR|SERF2_ENST00000594896.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	379					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTCACCTGAAACTCATAGCTG	0.478																																																	0								ENSG00000184716						118	115	116					15																	44088358		2198	4298	6496	SERINC4	SO:0001583	missense	0			-	HGNC	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1135T>A	15.37:g.44088358A>T	ENSP00000319796:p.Phe379Ile	Somatic	0	49	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	36	29.41	B2RN41|Q3YL75	Missense_Mutation	SNP	36	0	0	30	33.33	15	pfam_TMS_TDE	p.F135I	ENST00000319327.6	37	c.403	CCDS58360.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.71|13.71	2.319664|2.319664	0.41096|0.41096	.|.	.|.	ENSG00000184716|ENSG00000184716	ENST00000319327;ENST00000249714|ENST00000299969	T;T|T	0.12569|0.29917	2.67;2.67|1.55	5.7|5.7	3.4|3.4	0.38934|0.38934	.|.	0.242945|.	0.42172|.	N|.	0.000750|.	T|T	0.28300|0.28300	0.0699|0.0699	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P|B	0.40000|0.26445	0.698|0.149	B|B	0.33295|0.23419	0.161|0.046	T|T	0.12041|0.12041	-1.0563|-1.0563	10|9	0.32370|0.87932	T|D	0.25|0	-4.3126|-4.3126	7.7227|7.7227	0.28742|0.28742	0.7864:0.1411:0.0725:0.0|0.7864:0.1411:0.0725:0.0	.|.	135|304	A6NH21-2|A6NM42	.|.	I|R	379;135|304	ENSP00000319796:F379I;ENSP00000249714:F135I|ENSP00000299969:S304R	ENSP00000249714:F135I|ENSP00000299969:S304R	F|S	-|-	1|3	0|2	SERINC4|SERINC4	41875650|41875650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.744000|0.744000	0.42396|0.42396	5.611000|5.611000	0.67674|0.67674	0.970000|0.970000	0.38263|0.38263	0.533000|0.533000	0.62120|0.62120	TTT|AGT	-	pfam_TMS_TDE		0.478	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SERINC4	protein_coding	OTTHUMT00000133485.2	A		-		44088358	-1	no_errors	ENST00000249714	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44088358	A	T	44088358	3	4	138	1	0	0	0	0	1	0	0	0	14090	43	2	5	437	5	SERINC4	15	44088358	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	15707551	44088358	58443034	79	10371											
UNC13C	440279	genome.wustl.edu	37	chr15	54590064	54590064	+	Silent	SNP	G	G	A													atacgattgaaaatcaatgtGgagataaaaggagaagagaa							TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr15:54590064G>A	ENST00000260323.11	+	11	4044	c.4044G>A	c.(4042-4044)gtG>gtA	p.V1348V	UNC13C_ENST00000545554.1_Silent_p.V1348V|UNC13C_ENST00000537900.1_Silent_p.V1346V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1348					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATCAATGTGGAGATAAAAG	0.323																																																	0								ENSG00000137766						74	72	72					15																	54590064		1843	4082	5925	UNC13C	SO:0001819	synonymous_variant	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4044G>A	15.37:g.54590064G>A		Somatic	0	17	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	Q0P613|Q8ND48|Q96NP3	Silent	SNP	29	0	0	21	50.00	21	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V1348	ENST00000260323.11	37	c.4044	CCDS45264.1	15																																																																																			-	superfamily_C2_dom		0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	G	NM_173166	-		54590064	1	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	SNP	1.000	A	A	54590064	G	A	54590064	2	1	138	1	0	0	0	0	0	0	0	1	16993	1335	47	2		2	UNC13C	15	54590064	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	10501706	54590064	47941328	80	10372	170	2									
UNC13C	440279	genome.wustl.edu	37	chr15	54590065	54590065	+	Nonsense_Mutation	SNP	G	G	T													tacgattgaaaatcaatgtgGagataaaaggagaagagaag							TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr15:54590065G>T	ENST00000260323.11	+	11	4045	c.4045G>T	c.(4045-4047)Gag>Tag	p.E1349*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E1349*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1347*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1349					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATCAATGTGGAGATAAAAGG	0.328																																																	0								ENSG00000137766						73	71	72					15																	54590065		1843	4082	5925	UNC13C	SO:0001587	stop_gained	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4045G>T	15.37:g.54590065G>T	ENSP00000260323:p.Glu1349*	Somatic	0	16	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	29	0	0	20	52.38	22	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1349*	ENST00000260323.11	37	c.4045	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	45	11.438828	0.99561	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.65	5.65	0.86999	.	0.231325	0.42294	D	0.000724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6988	0.91613	0.0:0.0:1.0:0.0	.	.	.	.	X	1349;1349;1347	.	ENSP00000260323:E1349X	E	+	1	0	UNC13C	52377357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.640000	0.89533	0.650000	0.86243	GAG	-	superfamily_C2_dom		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	G	NM_173166	-		54590065	1	no_errors	ENST00000260323	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	54590065	G	T	54590065	4	4	138	1	0	0	0	0	0	1	0	0	16993	1175	41	3	4083	3	UNC13C	15	54590065	Nonsense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	1	54590065	47941327	81	10373	170	2									
ACAN	176	genome.wustl.edu	37	chr15	89402172	89402172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctgccgcccctgaggCcagcagagaagattctgggt	14	12	2	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr15:89402172C>T	ENST00000561243.1	+	11	6356	c.6356C>T	c.(6355-6357)gCc>gTc	p.A2119V	ACAN_ENST00000559004.1_Missense_Mutation_p.A2119V|ACAN_ENST00000439576.2_Missense_Mutation_p.A2119V|ACAN_ENST00000352105.7_Missense_Mutation_p.A2119V			P16112	PGCA_HUMAN	aggrecan	2004	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)			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)			GCCCCTGAGGCCAGCAGAGAA	0.572																																																	0								ENSG00000157766						48	50	50					15																	89402172		1916	4122	6038	ACAN	SO:0001583	missense	0			-	HGNC	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.6356C>T	15.37:g.89402172C>T	ENSP00000453342:p.Ala2119Val	Somatic	0	27	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	33	0	0	30	45.45	25	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A2119V	ENST00000561243.1	37	c.6356	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	6.496	0.459705	0.12342	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02216	4.55;4.39	4.4	0.749	0.18381	.	0.260910	0.20336	N	0.094335	T	0.05090	0.0136	M	0.68317	2.08	0.09310	N	1	P;D	0.62365	0.568;0.991	B;P	0.55749	0.181;0.783	T	0.31806	-0.9930	10	0.33141	T	0.24	-10.4741	4.1575	0.10268	0.0:0.4993:0.1953:0.3054	.	2119;2119	E7ENV9;E7EX88	.;.	V	2119;2119;2005	ENSP00000387356:A2119V;ENSP00000341615:A2119V	ENSP00000268134:A2005V	A	+	2	0	ACAN	87203176	0.342000	0.24809	0.025000	0.17156	0.011000	0.07611	0.111000	0.15458	0.387000	0.25024	0.555000	0.69702	GCC	-	NULL		0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135	-		89402172	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	0.043	T	T	89402172	C	T	89402172	3	4	138	1	0	0	0	0	1	0	0	0	117	739	26	2	6398	2	ACAN	15	89402172	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	34812107	89402172	13129220	82	10374											
SMYD4	114826	genome.wustl.edu	37	chr17	1686394	1686394	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaacactggacggcccgtgGcgaacctccaccacgtagag	11	15	1	1	rs376113356		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:1686394G>C	ENST00000305513.7	-	10	2363	c.2196C>G	c.(2194-2196)cgC>cgG	p.R732R		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	732							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACGGCCCGTGGCGAACCTCCA	0.512																																																	0								ENSG00000186532						71	76	74					17																	1686394		2203	4300	6503	SMYD4	SO:0001819	synonymous_variant	0			-	HGNC	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2196C>G	17.37:g.1686394G>C		Somatic	0	36	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	16	0	0	36	25.00	12	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.R732	ENST00000305513.7	37	c.2196	CCDS11013.1	17																																																																																			-	NULL		0.512	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	protein_coding	OTTHUMT00000207108.4	G	XM_056082	-		1686394	-1	no_errors	ENST00000305513	ensembl	human	known	74_37	silent	SNP	0.989	C	C	1686394	G	C	1686394	2	2	138	1	0	0	0	0	0	0	0	1	14832	1190	42	4		4	SMYD4	17	1686394	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		1686394	79508816	83	10375											
MYBBP1A	10514	genome.wustl.edu	37	chr17	4448396	4448396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgtccccgtcgcgctcctcCtcctcgctctcctccccctc	5	25	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:4448396C>G	ENST00000254718.4	-	17	2541	c.2235G>C	c.(2233-2235)gaG>gaC	p.E745D	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E745D			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	745	Glu-rich.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						cgcgctcctcctcctcgctct	0.652																																																	0								ENSG00000132382						244	168	194					17																	4448396		2202	4299	6501	MYBBP1A	SO:0001583	missense	0			-	HGNC	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2235G>C	17.37:g.4448396C>G	ENSP00000254718:p.Glu745Asp	Somatic	0	56	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	20	0	0	27	25.00	9	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.E745D	ENST00000254718.4	37	c.2235	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	c	12.01	1.809995	0.31961	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.54866	0.55;0.55	5.22	3.03	0.35002	Armadillo-type fold (1);	0.229026	0.43747	D	0.000538	T	0.40119	0.1104	L	0.52364	1.645	0.43499	D	0.995749	B;B	0.29671	0.064;0.254	B;B	0.32211	0.041;0.142	T	0.12941	-1.0528	10	0.17832	T	0.49	-28.3423	4.8489	0.13528	0.0:0.5688:0.2349:0.1963	.	745;745	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	D	745	ENSP00000370968:E745D;ENSP00000254718:E745D	ENSP00000254718:E745D	E	-	3	2	MYBBP1A	4395145	0.987000	0.35691	0.996000	0.52242	0.579000	0.36224	0.196000	0.17176	1.345000	0.45676	0.542000	0.68232	GAG	-	pfam_DNA_pol_V,superfamily_ARM-type_fold		0.652	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	protein_coding	OTTHUMT00000207488.2	C	NM_014520	-		4448396	-1	no_errors	ENST00000381556	ensembl	human	known	74_37	missense	SNP	1.000	G	G	4448396	C	G	4448396	3	3	138	1	0	0	0	0	1	0	0	0	10010	680	24	4	1831	4	MYBBP1A	17	4448396	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	2762002	4448396	76746814	84	10376											
CAMTA2	23125	genome.wustl.edu	37	chr17	4884615	4884615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgttctacagagaacTcttctgttccattcccgcag	8	13	3	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:4884615T>C	ENST00000348066.3	-	8	728	c.605A>G	c.(604-606)gAg>gGg	p.E202G	CAMTA2_ENST00000414043.3_Missense_Mutation_p.E225G|CAMTA2_ENST00000361571.5_Missense_Mutation_p.E201G|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E202G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E207G|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E204G|CAMTA2_ENST00000571831.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	202					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TACAGAGAACTCTTCTGTTCC	0.562											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000108509						145	134	137					17																	4884615		2203	4300	6503	CAMTA2	SO:0001583	missense	0			-	HGNC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.605A>G	17.37:g.4884615T>C	ENSP00000321813:p.Glu202Gly	Somatic	0	70	0	622	0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	81	10.99	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	24	0	0	58	15.94	11	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.E225G	ENST00000348066.3	37	c.674	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	T	12.18	1.859286	0.32884	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.36340	2.51;1.52;1.26;1.52;1.3	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	T	0.20292	0.0488	N	0.12182	0.205	0.37520	D	0.917501	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.13953	-1.0490	10	0.14656	T	0.56	-17.8704	12.8542	0.57876	0.0:0.0:0.0:1.0	.	225;204;202;201	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	G	225;204;201;202;202	ENSP00000412886:E225G;ENSP00000370712:E204G;ENSP00000354828:E201G;ENSP00000350910:E202G;ENSP00000321813:E202G	ENSP00000321813:E202G	E	-	2	0	CAMTA2	4825339	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.652000	0.46682	2.129000	0.65627	0.459000	0.35465	GAG	-	NULL		0.562	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	protein_coding	OTTHUMT00000216876.1	T	NM_015099	-		4884615	-1	no_errors	ENST00000414043	ensembl	human	known	74_37	missense	SNP	1.000	C	C	4884615	T	C	4884615	3	2	138	1	0	0	0	0	1	0	0	0	2616	1551	54	5	3117	5	CAMTA2	17	4884615	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	436219	4884615	76310595	85	10377											
USP6	9098	genome.wustl.edu	37	chr17	5041559	5041559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaagcaaggggacctgCcacccccaggtgggctccag	14	14	0	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:5041559C>T	ENST00000574788.1	+	21	3299	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	USP6_ENST00000332776.4_Missense_Mutation_p.P357S|USP6_ENST00000250066.6_Missense_Mutation_p.P357S|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	357					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						AGGGGACCTGCCACCCCCAGG	0.597			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0								ENSG00000129204						108	114	112					17																	5041559		2203	4300	6503	USP6	SO:0001583	missense	0			-	HGNC	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.1069C>T	17.37:g.5041559C>T	ENSP00000460380:p.Pro357Ser	Somatic	0	171	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	171	12.31	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	23	0	0	53	17.19	11	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.P357S	ENST00000574788.1	37	c.1069	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533169	0.64972	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.15017	2.46;2.93	0.862	0.862	0.19056	.	0.151754	0.56097	D	0.000021	T	0.26521	0.0648	L	0.60957	1.885	0.80722	D	1	D	0.57571	0.98	P	0.59424	0.857	T	0.02004	-1.1231	10	0.72032	D	0.01	.	5.4	0.16291	0.0:1.0:0.0:0.0	.	357	P35125	UBP6_HUMAN	S	357	ENSP00000328010:P357S;ENSP00000250066:P357S	ENSP00000250066:P357S	P	+	1	0	USP6	4982283	0.891000	0.30450	0.536000	0.28039	0.541000	0.35023	1.855000	0.39378	0.132000	0.18615	0.134000	0.15878	CCA	-	NULL		0.597	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	protein_coding	OTTHUMT00000438990.1	C	NM_004505	-		5041559	1	no_errors	ENST00000250066	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5041559	C	T	5041559	3	4	138	1	0	0	0	0	1	0	0	0	17093	739	26	2	1115	2	USP6	17	5041559	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	156944	5041559	76153651	86	10378											
PITPNM3	83394	genome.wustl.edu	37	chr17	6367059	6367059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcactcaccggacaaCatccactgcacccggccgga	11	16	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:6367059C>A	ENST00000262483.8	-	17	2386	c.2299G>T	c.(2299-2301)Gtt>Ttt	p.V767F	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.V731F	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	767					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CACCGGACAACATCCACTGCA	0.587																																																	0								ENSG00000091622						39	36	37					17																	6367059		2203	4300	6503	PITPNM3	SO:0001583	missense	0			-	HGNC	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2299G>T	17.37:g.6367059C>A	ENSP00000262483:p.Val767Phe	Somatic	0	42	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	28	0	0	47	24.19	15	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.V767F	ENST00000262483.8	37	c.2299	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007082	0.93287	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.79653	-1.29;-1.29	5.09	5.09	0.68999	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92750	0.6215	10	0.87932	D	0	.	15.9863	0.80155	0.0:1.0:0.0:0.0	.	731;767	F8WEW5;Q9BZ71	.;PITM3_HUMAN	F	767;731	ENSP00000262483:V767F;ENSP00000407882:V731F	ENSP00000262483:V767F	V	-	1	0	PITPNM3	6307783	1.000000	0.71417	0.992000	0.48379	0.944000	0.59088	7.770000	0.85390	2.378000	0.81104	0.561000	0.74099	GTT	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.587	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	protein_coding	OTTHUMT00000219824.2	C	NM_031220	-		6367059	-1	no_errors	ENST00000262483	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6367059	C	A	6367059	3	1	138	1	0	0	0	0	1	0	0	0	11954	478	17	3	641	3	PITPNM3	17	6367059	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	1325500	6367059	74828151	87	10379											
MYH1	4619	genome.wustl.edu	37	chr17	10404994	10404994	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaccgctcatttcaaActctttcctattagaaaagc	5	11	3	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:10404994A>T	ENST00000226207.5	-	26	3359	c.3265T>A	c.(3265-3267)Ttt>Att	p.F1089I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1089					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATTTCAAACTCTTTCCTA	0.358																																																	0								ENSG00000109061						94	89	91					17																	10404994		2203	4299	6502	MYH1	SO:0001583	missense	0			-	HGNC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3265T>A	17.37:g.10404994A>T	ENSP00000226207:p.Phe1089Ile	Somatic	0	35	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	65	17.72	Q14CA4|Q9Y622	Missense_Mutation	SNP	42	0	0	61	27.38	23	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F1089I	ENST00000226207.5	37	c.3265	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581058	0.86748	.	.	ENSG00000109061	ENST00000226207	D	0.82526	-1.62	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.44688	U	0.000440	D	0.90352	0.6981	M	0.85041	2.73	0.80722	D	1	P	0.49696	0.927	P	0.56916	0.809	D	0.91526	0.5238	10	0.59425	D	0.04	.	15.9255	0.79611	1.0:0.0:0.0:0.0	.	1089	P12882	MYH1_HUMAN	I	1089	ENSP00000226207:F1089I	ENSP00000226207:F1089I	F	-	1	0	MYH1	10345719	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.124000	0.77185	2.221000	0.72209	0.528000	0.53228	TTT	-	pfam_Myosin_tail		0.358	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	A	NM_005963	-		10404994	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10404994	A	T	10404994	3	4	138	1	0	0	0	0	1	0	0	0	10031	43	2	5	2614	5	MYH1	17	10404994	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	4037935	10404994	70790216	88	10380											
MYH2	4620	genome.wustl.edu	37	chr17	10443920	10443921	+	Frame_Shift_Ins	INS	-	-	TG													ttctacttacatctgtggccINSatcagttcttcctgatcatc							TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:10443920_10443921insTG	ENST00000245503.5	-	11	1382_1383	c.998_999insCA	c.(997-999)atgfs	p.M333fs	MYH2_ENST00000397183.2_Frame_Shift_Ins_p.M333fs|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Frame_Shift_Ins_p.M333fs	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	333	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCTGTGGCCATCAGTTCTTC	0.401																																																	0								ENSG00000125414																																			MYH2	SO:0001589	frameshift_variant	0				HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.998_999insCA	17.37:g.10443920_10443921insTG	ENSP00000245503:p.Met333fs	Somatic	0	50	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Frame_Shift_Ins	INS	35	0	0	52	10.34	6	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M333fs	ENST00000245503.5	37	c.999_998	CCDS11156.1	17																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.401	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	-	NM_017534			10443921	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	frame_shift_ins	INS	0.990:1.000	TG	TG	10443921	-	TG	10443920	7	5	138	1	0	1	1	0	0	0	0	0	10037	594	21	0	4946	0	MYH2	17	10443920	Frame_Shift_Ins	INS	-	TCGA-FX-A3RE-01A-11D-A228-09	38926	10443920	70751290	89	10381											
TMEM99	147184	genome.wustl.edu	37	chr17	38991131	38991131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttggttttctcttcaTcttcaacaagtcagtctctc	6	12	7	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:38991131T>C	ENST00000301665.3	+	3	667	c.363T>C	c.(361-363)caT>caC	p.H121H		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	121						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TTTCTCTTCATCTTCAACAAG	0.507																																																	0								ENSG00000167920						127	126	126					17																	38991131		1936	4142	6078	TMEM99	SO:0001819	synonymous_variant	0			-	HGNC	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.363T>C	17.37:g.38991131T>C		Somatic	0	42	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	B4DQ34|Q96BP9	Silent	SNP	20	0	0	42	22.22	12	NULL	p.H121	ENST00000301665.3	37	c.363	CCDS42319.1	17																																																																																			-	NULL		0.507	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM99	protein_coding	OTTHUMT00000257681.1	T	NM_145274	-		38991131	1	no_errors	ENST00000301665	ensembl	human	known	74_37	silent	SNP	0.073	C	C	38991131	T	C	38991131	2	2	138	1	0	0	0	0	0	0	0	1	16233	1432	50	5		5	TMEM99	17	38991131	Silent	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	28547211	38991131	42204079	90	10382											
ITGA2B	3674	genome.wustl.edu	37	chr17	42461715	42461715	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaagtgggggcaccgacGacatattctggcgataggga	14	10	1	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:42461715G>A	ENST00000262407.5	-	9	886	c.855C>T	c.(853-855)gtC>gtT	p.V285V	ITGA2B_ENST00000353281.4_Silent_p.V285V|ITGA2B_ENST00000377068.3_5'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	285					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGCACCGACGACATATTCTG	0.602																																																	0								ENSG00000005961						41	52	48					17																	42461715		2196	4296	6492	ITGA2B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.855C>T	17.37:g.42461715G>A		Somatic	0	47	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	41	37.88	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	14	0	0	31	39.22	20	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V285	ENST00000262407.5	37	c.855	CCDS32665.1	17																																																																																			-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	protein_coding	OTTHUMT00000439823.1	G		-		42461715	-1	no_errors	ENST00000262407	ensembl	human	known	74_37	silent	SNP	0.080	A	A	42461715	G	A	42461715	2	1	138	1	0	0	0	0	0	0	0	1	7878	1045	37	1		1	ITGA2B	17	42461715	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	3470584	42461715	38733495	91	10383											
CACNA1G	8913	genome.wustl.edu	37	chr17	48703577	48703577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagccccttgcccaggccCagaacccaactggggcaagg	12	17	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr17:48703577C>A	ENST00000359106.5	+	38	6599	c.6599C>A	c.(6598-6600)cCa>cAa	p.P2200Q	CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2144Q|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2114Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2189Q|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2073Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2137Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2166Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2084Q|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2121Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2082Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2089Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P2073Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2096Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2107Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2110Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2055Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2066Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2062Q|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2050Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2129Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2155Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2100Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2200					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)	TGCCCAGGCCCAGAACCCAAC	0.627											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006283						34	43	40					17																	48703577		2065	4206	6271	CACNA1G	SO:0001583	missense	0			-	HGNC	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.6599C>A	17.37:g.48703577C>A	ENSP00000352011:p.Pro2200Gln	Somatic	0	75	0	956	0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	85	16.67	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	21	0	0	42	23.64	13	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.P2200Q	ENST00000359106.5	37	c.6599	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.626266	0.00813	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000359106;ENST00000429973;ENST00000515411	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-3.94;-3.94;-3.91;-3.95;-4.0;-3.95;-4.07;-4.04;-4.05;-4.06;-3.97;-3.93;-4.04;-3.92;-3.94;-3.95;-3.93;-3.96;-3.97;-3.94;-3.97;-3.95	5.32	-2.4	0.06583	.	0.872822	0.10014	N	0.726827	D	0.89287	0.6672	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26635	0.07;0.001;0.155;0.155;0.042;0.075;0.155;0.075;0.155;0.039;0.042;0.041;0.155;0.0;0.023;0.068;0.042;0.012;0.07;0.023;0.041;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39531	0.079;0.007;0.302;0.302;0.082;0.177;0.302;0.221;0.302;0.056;0.102;0.043;0.247;0.001;0.147;0.165;0.025;0.063;0.079;0.056;0.058;0.002	T	0.82319	-0.0516	10	0.22706	T	0.39	.	2.2455	0.04030	0.1318:0.2411:0.1304:0.4967	.	2050;2062;2055;2137;2110;2082;2114;2073;2100;2129;2096;2189;2089;2144;2107;2177;2155;2073;2066;2121;2084;2200	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN	Q	2084;2073;2166;2066;2129;2096;2062;2050;2055;2073;2155;2189;2110;2100;2121;2107;2082;2144;2114;2200;2089;2137	ENSP00000353990:P2084Q;ENSP00000339302:P2073Q;ENSP00000347078:P2166Q;ENSP00000409759:P2066Q;ENSP00000425522:P2129Q;ENSP00000426261:P2096Q;ENSP00000425451:P2062Q;ENSP00000422407:P2050Q;ENSP00000426814:P2055Q;ENSP00000427238:P2073Q;ENSP00000423112:P2155Q;ENSP00000420918:P2189Q;ENSP00000426172:P2110Q;ENSP00000423045:P2100Q;ENSP00000427173:P2121Q;ENSP00000426098:P2107Q;ENSP00000425698:P2082Q;ENSP00000426232:P2144Q;ENSP00000423317:P2114Q;ENSP00000352011:P2200Q;ENSP00000414388:P2089Q;ENSP00000423155:P2137Q	ENSP00000339302:P2073Q	P	+	2	0	CACNA1G	46058576	0.032000	0.19561	0.012000	0.15200	0.043000	0.13939	0.289000	0.18957	-0.308000	0.08792	0.462000	0.41574	CCA	-	NULL		0.627	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	C	NM_018896	-		48703577	1	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	SNP	0.001	A	A	48703577	C	A	48703577	3	1	138	1	0	0	0	0	1	0	0	0	2546	594	21	3	7016	3	CACNA1G	17	48703577	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	6241862	48703577	32491633	92	10384											
FAM38B	63895	genome.wustl.edu	37	chr18	10789250	10789250	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgatgtcctgctcatcttCttcttcagcttcctcttgct	5	14	6	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr18:10789250C>A	ENST00000503781.3	-	15	1995	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.E666*|PIEZO2_ENST00000383408.2_5'Flank|PIEZO2_ENST00000302079.6_Nonsense_Mutation_p.E666*	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	666	Glu-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TGCTCAtcttcttcttcagct	0.483																																																	0								ENSG00000154864						628	520	553					18																	10789250		692	1591	2283	PIEZO2	SO:0001587	stop_gained	0			-	HGNC	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.1996G>T	18.37:g.10789250C>A	ENSP00000421377:p.Glu666*	Somatic	0	91	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	60	36.84	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Nonsense_Mutation	SNP	36	0	0	59	25.32	20	NULL	p.E666*	ENST00000503781.3	37	c.1996		18	.	.	.	.	.	.	.	.	.	.	C	40	8.309089	0.98752	.	.	ENSG00000154864	ENST00000302079	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.67	0.95909	0.0:1.0:0.0:0.0	.	.	.	.	X	666	.	ENSP00000303316:E666X	E	-	1	0	FAM38B	10779250	0.746000	0.28272	0.082000	0.20525	0.941000	0.58515	5.690000	0.68241	2.655000	0.90218	0.655000	0.94253	GAA	-	NULL		0.483	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	protein_coding	OTTHUMT00000442385.4	C	NM_022068	-		10789250	-1	no_errors	ENST00000582913	ensembl	human	known	74_37	nonsense	SNP	0.647	A	A	10789250	C	A	10789250	4	1	138	1	0	0	0	0	0	1	0	0	5557	922	32	3	6414	3	FAM38B	18	10789250	Nonsense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		10789250	67287998	93	10385											
TCEB3C	728929	genome.wustl.edu	37	chr18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtacggctgatcgggcGtccacccttccagaacgggt	14	13	0	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T371M(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CTGATCGGGCGTCCACCCTTC	0.587																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000234298						260	221	234					18																	44549187		1740	3470	5210	TCEB3CL	SO:0001583	missense	0			-	HGNC			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1112C>T	18.37:g.44549187G>A	ENSP00000409932:p.Thr371Met	Somatic	0	160	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	115	9.45	Q3MI93	Missense_Mutation	SNP	63	0	0	138	8.61	13	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.T371M	ENST00000451265.1	37	c.1112	CCDS42433.1	18	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991850	0.35131	.	.	ENSG00000234298	ENST00000451265	T	0.34859	1.34	1.5	0.603	0.17541	.	0.000000	0.52532	D	0.000078	T	0.47021	0.1423	M	0.63843	1.955	0.25300	N	0.989283	D	0.71674	0.998	P	0.61874	0.895	T	0.30357	-0.9981	10	0.56958	D	0.05	-24.5205	7.7008	0.28621	0.0:0.2651:0.7349:0.0	.	371	Q3SY89	EA3L1_HUMAN	M	371	ENSP00000409932:T371M	ENSP00000409932:T371M	T	-	2	0	TCEB3CL	42803185	0.992000	0.36948	0.000000	0.03702	0.000000	0.00434	2.511000	0.45476	0.221000	0.20879	-0.232000	0.12228	ACG	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.587	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL	protein_coding	OTTHUMT00000451071.1	G	XM_001132059	-		44549187	-1	no_errors	ENST00000451265	ensembl	human	known	74_37	missense	SNP	0.212	A	A	44549187	G	A	44549187	3	1	138	1	0	0	0	0	1	0	0	0	15690	1145	40	1	532	1	TCEB3C	18	44549187	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	33759937	44549187	33528061	94	10386											
SERPINB3	6317	genome.wustl.edu	37	chr18	61328304	61328304	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcttaatctgttgtgcAgtgttgtctttggctcctaa	8	9	3	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr18:61328304A>C	ENST00000283752.5	-	2	290	c.147T>G	c.(145-147)acT>acG	p.T49T	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.T49T	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	49					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTGTTGTGCAGTGTTGTCTT	0.433																																																	0								ENSG00000057149						268	234	245					18																	61328304		2203	4300	6503	SERPINB3	SO:0001819	synonymous_variant	0			-	HGNC	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.147T>G	18.37:g.61328304A>C		Somatic	0	128	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	78	37.60	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	36	0	0	36	46.38	32	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.T49	ENST00000283752.5	37	c.147	CCDS11987.1	18																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.433	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	protein_coding	OTTHUMT00000133791.1	A	NM_006919	-		61328304	-1	no_errors	ENST00000283752	ensembl	human	known	74_37	silent	SNP	0.970	C	C	61328304	A	C	61328304	2	2	138	1	0	0	0	0	0	0	0	1	14110	175	7	5		5	SERPINB3	18	61328304	Silent	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	16779117	61328304	16748944	95	10387											
DOCK6	57572	genome.wustl.edu	37	chr19	11354335	11354335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcggtagcggcccaggcGggtgcagaactgctcggccg	17	13	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:11354335G>A	ENST00000294618.7	-	11	1167	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	386					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGGCCCAGGCGGGTGCAGAAC	0.667											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000130158						31	44	39					19																	11354335		2124	4230	6354	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1156C>T	19.37:g.11354335G>A	ENSP00000294618:p.Arg386Cys	Somatic	0	19	0	671	0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	22	0	0	66	10.81	8	pfam_DOCK_C,pfam_DOCK_C/D_N	p.R386C	ENST00000294618.7	37	c.1156	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650635	0.87958	.	.	ENSG00000130158	ENST00000294618	T	0.18960	2.18	4.48	3.4	0.38934	.	0.000000	0.64402	D	0.000001	T	0.51329	0.1668	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60332	-0.7284	10	0.87932	D	0	-20.6242	12.1896	0.54264	0.0:0.0:0.8213:0.1787	.	386	Q96HP0	DOCK6_HUMAN	C	386	ENSP00000294618:R386C	ENSP00000294618:R386C	R	-	1	0	DOCK6	11215335	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.574000	0.46016	0.808000	0.34231	0.462000	0.41574	CGC	-	NULL		0.667	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	G	NM_020812	-		11354335	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11354335	G	A	11354335	3	1	138	1	0	0	0	0	1	0	0	0	4693	1116	39	1	5139	1	DOCK6	19	11354335	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09		11354335	47774648	96	10388											
C19orf57	79173	genome.wustl.edu	37	chr19	14000757	14000757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaggggagccctgggcCacagacccgggttccaggca	17	13	1	1	rs139071536	byFrequency	TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:14000757C>T	ENST00000586783.1	-	5	911	c.912G>A	c.(910-912)gtG>gtA	p.V304V	C19orf57_ENST00000346736.2_Silent_p.V304V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Silent_p.V304V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	304					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGCCCTGGGCCACAGACCCGG	0.667													C|||	2	0.000399361	0	0	5008	,	,		17581	0		0.002	False		,,,				2504	0																0								ENSG00000132016	C		2,4402		0,2,2200	21	22	22		912	-3.5	0	19	dbSNP_134	22	16,8582		0,16,4283	no	coding-synonymous	C19orf57	NM_024323.3		0,18,6483	TT,TC,CC		0.1861,0.0454,0.1384		304/638	14000757	18,12984	2202	4299	6501	C19orf57	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.912G>A	19.37:g.14000757C>T		Somatic	0	47	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	57	24.00	Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	24	0	0	56	18.84	13	NULL	p.V304	ENST00000586783.1	37	c.912		19																																																																																			-	NULL		0.667	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	protein_coding	OTTHUMT00000457947.1	C	NM_024323	rs139071536		14000757	-1	no_errors	ENST00000454313	ensembl	human	known	74_37	silent	SNP	0.000	T	T	14000757	C	T	14000757	2	4	138	1	0	0	0	0	0	0	0	1	1941	581	21	2		2	C19orf57	19	14000757	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	2646422	14000757	45128226	97	10389											
PRX	57716	genome.wustl.edu	37	chr19	40900053	40900053	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtgacttctctctgacGggggacttgggggctgcatc	16	9	2	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:40900053G>T	ENST00000324001.7	-	7	4476	c.4206C>A	c.(4204-4206)ccC>ccA	p.P1402P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1402					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)			TCTCTCTGACGGGGGACTTGG	0.692																																																	0								ENSG00000105227						61	70	67					19																	40900053		2203	4300	6503	PRX	SO:0001819	synonymous_variant	0			-	HGNC	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.4206C>A	19.37:g.40900053G>T		Somatic	0	54	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	Q9BXL9|Q9HCF2	Silent	SNP	22	0	0	27	10.00	3	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P1402	ENST00000324001.7	37	c.4206	CCDS33028.1	19																																																																																			-	NULL		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	G	NM_020956	-		40900053	-1	no_errors	ENST00000324001	ensembl	human	known	74_37	silent	SNP	0.258	T	T	40900053	G	T	40900053	2	4	138	1	0	0	0	0	0	0	0	1	12647	1103	39	3		3	PRX	19	40900053	Silent	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	26899296	40900053	18228930	98	10390											
SYMPK	8189	genome.wustl.edu	37	chr19	46351034	46351034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggatgtaggggtggtcacGagggatgcggtccaggctga	19	7	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:46351034G>A	ENST00000245934.7	-	7	896	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	218					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGTGGTCACGAGGGATGCGG	0.602																																																	0								ENSG00000125755						104	88	93					19																	46351034		2203	4300	6503	SYMPK	SO:0001583	missense	0			-	HGNC	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.652C>T	19.37:g.46351034G>A	ENSP00000245934:p.Arg218Cys	Somatic	0	42	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	24	0	0	33	25.00	11	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.R218C	ENST00000245934.7	37	c.652	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125217	0.56721	.	.	ENSG00000125755	ENST00000245934	T	0.33865	1.39	5.5	5.5	0.81552	Armadillo-type fold (1);	0.438355	0.24940	N	0.034393	T	0.37376	0.1001	L	0.43923	1.385	0.47737	D	0.999505	D;P	0.60575	0.988;0.717	P;B	0.49012	0.598;0.206	T	0.08848	-1.0702	10	0.54805	T	0.06	.	10.176	0.42939	0.0874:0.0:0.9126:0.0	.	233;218	Q4LE61;Q92797	.;SYMPK_HUMAN	C	218	ENSP00000245934:R218C	ENSP00000245934:R218C	R	-	1	0	SYMPK	51042874	0.712000	0.27916	0.995000	0.50966	0.989000	0.77384	2.577000	0.46042	2.854000	0.98071	0.655000	0.94253	CGT	-	pfam_DUF3453,superfamily_ARM-type_fold		0.602	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	protein_coding	OTTHUMT00000316581.1	G	NM_004819	-		46351034	-1	no_errors	ENST00000245934	ensembl	human	known	74_37	missense	SNP	0.963	A	A	46351034	G	A	46351034	3	1	138	1	0	0	0	0	1	0	0	0	15446	1058	37	1	3256	1	SYMPK	19	46351034	Missense_Mutation	SNP	G	TCGA-FX-A3RE-01A-11D-A228-09	5450981	46351034	12777949	99	10391											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51649285	51649285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggagctgcaagtgcacCtgggggatgaaggggaattc	16	7	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:51649285C>T	ENST00000317643.6	+	4	1003	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	SIGLEC7_ENST00000305628.7_Silent_p.L219L|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	312	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCAAGTGCACCTGGGGGATGA	0.587																																																	0								ENSG00000168995						104	98	100					19																	51649285		2203	4300	6503	SIGLEC7	SO:0001819	synonymous_variant	0			-	HGNC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.934C>T	19.37:g.51649285C>T		Somatic	0	60	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	29	0	0	43	17.31	9	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L312	ENST00000317643.6	37	c.934	CCDS12826.1	19																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	C	NM_016543	-		51649285	1	no_errors	ENST00000317643	ensembl	human	known	74_37	silent	SNP	0.000	T	T	51649285	C	T	51649285	2	4	138	1	0	0	0	0	0	0	0	1	14321	680	24	2		2	SIGLEC7	19	51649285	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	5298251	51649285	7479698	100	10392											
CEACAM18	729767	genome.wustl.edu	37	chr19	51981777	51981777	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggaggaaaggccgccCtgaaggctgggagacgagac	18	10	0	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:51981777C>T	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Silent_p.L22L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAAGGCCGCCCTGAAGGCTGG	0.622																																																	0								ENSG00000213822						12	15	14					19																	51981777		1941	4129	6070	CEACAM18	SO:0001631	upstream_gene_variant	0			-	HGNC			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981777C>T	Exception_encountered	Somatic	0	57	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	C9JN24	Silent	SNP	18	0	0	31	18.42	7	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L22	ENST00000396477.4	37	c.64		19																																																																																			-	NULL		0.622	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	protein_coding	OTTHUMT00000323114.2	C		-		51981777	1	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	SNP	0.002	T	T	51981777	C	T	51981777	1	4	138	0	1	0	0	0	0	0	0	0	3191	680	24	2		2	CEACAM18	19	51981777	5'Flank	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	332492	51981777	7147206	101	10393											
PTPRH	5794	genome.wustl.edu	37	chr19	55711640	55711640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctgcctggagccacgtgCtccatttttttctgcccata	7	13	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:55711640C>A	ENST00000376350.3	-	7	1406	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A284S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	462	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGCCACGTGCTCCATTTTTT	0.527																																																	0								ENSG00000080031						153	129	138					19																	55711640		2203	4300	6503	PTPRH	SO:0001583	missense	0			-	HGNC		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1384G>T	19.37:g.55711640C>A	ENSP00000365528:p.Ala462Ser	Somatic	0	98	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	86	17.31	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	28	0	0	43	23.21	13	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A462S	ENST00000376350.3	37	c.1384	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	3.676	-0.066441	0.07273	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.52983	0.64;0.64	2.79	0.476	0.16779	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28566	0.0707	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23540	0.087;0.071;0.012	B;B;B	0.31101	0.124;0.047;0.029	T	0.31586	-0.9938	9	0.22706	T	0.39	.	7.2725	0.26264	0.4778:0.5222:0.0:0.0	.	284;284;462	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	S	462;284	ENSP00000365528:A462S;ENSP00000263434:A284S	ENSP00000263434:A284S	A	-	1	0	PTPRH	60403452	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.024000	0.03603	0.208000	0.20626	0.549000	0.68633	GCA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	protein_coding	OTTHUMT00000452649.1	C		-		55711640	-1	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55711640	C	A	55711640	3	1	138	1	0	0	0	0	1	0	0	0	12811	797	28	3	2019	3	PTPRH	19	55711640	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	3729863	55711640	3417343	102	10394											
PEG3	5178	genome.wustl.edu	37	chr19	57333112	57333112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaagggaaagatcccgCggaggcatccctgggaagaa	15	9	0	2	rs550751491	byFrequency	TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:57333112C>T	ENST00000326441.9	-	7	939	c.576G>A	c.(574-576)ccG>ccA	p.P192P	ZIM2_ENST00000599935.1_Silent_p.P67P|PEG3_ENST00000593695.1_Silent_p.P66P|ZIM2_ENST00000221722.5_Silent_p.P67P|ZIM2_ENST00000601070.1_Silent_p.P67P|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000593711.1_Silent_p.P67P|ZIM2_ENST00000391708.3_Silent_p.P67P|PEG3_ENST00000423103.2_Silent_p.P192P|PEG3_ENST00000598410.1_Silent_p.P67P	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	192					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGATCCCGCGGAGGCATCC	0.547													C|||	5	0.000998403	8e-04	0	5008	,	,		17577	0		0	False		,,,				2504	0.0041																0								ENSG00000198300						124	114	118					19																	57333112		2203	4300	6503	PEG3	SO:0001819	synonymous_variant	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.576G>A	19.37:g.57333112C>T		Somatic	0	42	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	33	0	0	42	17.31	9	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P192	ENST00000326441.9	37	c.576	CCDS12948.1	19																																																																																			-	NULL		0.547	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57333112	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	SNP	0.038	T	T	57333112	C	T	57333112	2	4	138	1	0	0	0	0	0	0	0	1	11722	755	27	1		1	PEG3	19	57333112	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	1621472	57333112	1795871	103	10395											
ZNF416	55659	genome.wustl.edu	37	chr19	58084054	58084054	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcataaggccttgcTgtagtgtgaattctctggtg	10	10	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr19:58084054T>C	ENST00000196489.3	-	4	1440	c.1218A>G	c.(1216-1218)acA>acG	p.T406T		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	406					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(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGCCTTGCTGTAGTGTGAA	0.453																																																	0								ENSG00000083817						109	98	102					19																	58084054		2203	4300	6503	ZNF416	SO:0001819	synonymous_variant	0			-	HGNC	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1218A>G	19.37:g.58084054T>C		Somatic	0	58	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	71	12.35	Q9NWW8	Silent	SNP	31	0	0	48	9.43	5	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T406	ENST00000196489.3	37	c.1218	CCDS12954.1	19																																																																																			-	pfscan_Znf_C2H2		0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	protein_coding	OTTHUMT00000466787.1	T	NM_017879	-		58084054	-1	no_errors	ENST00000196489	ensembl	human	known	74_37	silent	SNP	0.000	C	C	58084054	T	C	58084054	2	2	138	1	0	0	0	0	0	0	0	1	17900	1567	55	5		5	ZNF416	19	58084054	Silent	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	750942	58084054	1044929	104	10396											
NINL	22981	genome.wustl.edu	37	chr20	25457263	25457263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgggggccgggctctgCgtagcttctgtgtcctgggc	20	11	2	0	rs377035866		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr20:25457263C>T	ENST00000278886.6	-	17	2737	c.2664G>A	c.(2662-2664)acG>acA	p.T888T	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	888					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGGGCTCTGCGTAGCTTCTG	0.697																																																	0								ENSG00000101004	C		0,4264		0,0,2132	6	9	8		2664	-5.1	0	20		8	1,8343		0,1,4171	no	coding-synonymous	NINL	NM_025176.4		0,1,6303	TT,TC,CC		0.012,0.0,0.0079		888/1383	25457263	1,12607	2132	4172	6304	NINL	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2664G>A	20.37:g.25457263C>T		Somatic	0	27	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	10	0	0	23	25.81	8	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T888	ENST00000278886.6	37	c.2664	CCDS33452.1	20																																																																																			-	NULL		0.697	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	protein_coding	OTTHUMT00000078445.3	C	NM_025176	-		25457263	-1	no_errors	ENST00000278886	ensembl	human	known	74_37	silent	SNP	0.000	T	T	25457263	C	T	25457263	2	4	138	1	0	0	0	0	0	0	0	1	10422	755	27	1		1	NINL	20	25457263	Silent	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		25457263	37568257	105	10397											
NPBWR2	2832	genome.wustl.edu	37	chr20	62737859	62737859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccccgaagggccagTactgcagcaggtgctccgcg	14	15	0	0	rs535564502		TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr20:62737859T>G	ENST00000369768.1	-	1	665	c.326A>C	c.(325-327)tAc>tCc	p.Y109S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	109					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GAAGGGCCAGTACTGCAGCAG	0.602																																																	0								ENSG00000125522						42	36	38					20																	62737859		2202	4300	6502	NPBWR2	SO:0001583	missense	0			-	HGNC	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.326A>C	20.37:g.62737859T>G	ENSP00000358783:p.Tyr109Ser	Somatic	0	59	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	37	43.94	Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	16	0	0	24	31.43	11	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.Y109S	ENST00000369768.1	37	c.326	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	T	2.739	-0.262749	0.05754	.	.	ENSG00000125522	ENST00000369768	T	0.71103	-0.54	3.9	-0.0541	0.13815	GPCR, rhodopsin-like superfamily (1);	0.265354	0.30999	U	0.008448	T	0.54695	0.1874	L	0.35341	1.055	0.33867	D	0.634435	B	0.24317	0.101	B	0.30251	0.113	T	0.50101	-0.8867	10	0.20519	T	0.43	.	8.7538	0.34633	0.0:0.1582:0.0:0.8418	.	109	P48146	NPBW2_HUMAN	S	109	ENSP00000358783:Y109S	ENSP00000358783:Y109S	Y	-	2	0	NPBWR2	62208303	0.196000	0.23350	0.881000	0.34555	0.017000	0.09413	0.509000	0.22707	-0.353000	0.08224	-0.415000	0.06103	TAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.602	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	protein_coding	OTTHUMT00000080300.1	T	NM_005286	-		62737859	-1	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	SNP	0.976	G	G	62737859	T	G	62737859	3	3	138	1	0	0	0	0	1	0	0	0	10571	1638	57	5	678	5	NPBWR2	20	62737859	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	37280596	62737859	287661	106	10398											
MTMR3	8897	genome.wustl.edu	37	chr22	30387566	30387566	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgcaatccgaccacctgctAaaatagaagatctcttctca	5	13	2	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chr22:30387566A>T	ENST00000401950.2	+	7	709	c.367A>T	c.(367-369)Aaa>Taa	p.K123*	MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000333027.3_Nonsense_Mutation_p.K123*|MTMR3_ENST00000351488.3_Nonsense_Mutation_p.K123*|MTMR3_ENST00000406629.1_Nonsense_Mutation_p.K123*|MTMR3_ENST00000323630.5_5'UTR	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	123					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)			ACCACCTGCTAAAATAGAAGA	0.458																																																	0								ENSG00000100330						114	101	105					22																	30387566		2203	4300	6503	MTMR3	SO:0001587	stop_gained	0			-	HGNC	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.367A>T	22.37:g.30387566A>T	ENSP00000384651:p.Lys123*	Somatic	0	56	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Nonsense_Mutation	SNP	28	0	0	46	29.23	19	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.K123*	ENST00000401950.2	37	c.367	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	A	31	5.090327	0.94149	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	.	.	.	5.83	5.83	0.93111	.	0.094494	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3877	0.49796	0.8489:0.1511:0.0:0.0	.	.	.	.	X	123	.	ENSP00000331649:K123X	K	+	1	0	MTMR3	28717566	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.283000	0.65621	2.225000	0.72522	0.533000	0.62120	AAA	-	NULL		0.458	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	protein_coding	OTTHUMT00000322066.1	A	NM_021090	-		30387566	1	no_errors	ENST00000401950	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	30387566	A	T	30387566	4	4	138	1	0	0	0	0	0	1	0	0	9947	363	13	5	385	5	MTMR3	22	30387566	Nonsense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09		30387566	20917000	107	10399											
RBBP7	5931	genome.wustl.edu	37	chrX	16875794	16875794	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atagccttccttctggtgacCtcttaatctgagatcaggat	8	10	4	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:16875794C>G	ENST00000380087.2	-	5	880	c.520G>C	c.(520-522)Ggt>Cgt	p.G174R	RBBP7_ENST00000380084.4_Missense_Mutation_p.G218R|RBBP7_ENST00000404022.1_Missense_Mutation_p.G165R			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	174					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTCTGGTGACCTCTTAATCTG	0.373																																																	0								ENSG00000102054						180	154	163					X																	16875794		2203	4300	6503	RBBP7	SO:0001583	missense	0			-	HGNC	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.520G>C	X.37:g.16875794C>G	ENSP00000369427:p.Gly174Arg	Somatic	0	60	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	Q5JP00	Missense_Mutation	SNP	32	0	0	63	10.00	7	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G174R	ENST00000380087.2	37	c.520	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885409	0.91814	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000416035	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.3	5.3	0.74995	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	0.88945	0.6575	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.996	D;D;D;D	0.76071	0.961;0.987;0.979;0.963	D	0.92299	0.5848	10	0.87932	D	0	-0.4083	17.1671	0.86819	0.0:1.0:0.0:0.0	.	160;165;174;218	B0R0W4;E9PC52;Q16576;Q5JP00	.;.;RBBP7_HUMAN;.	R	174;218;165;94	ENSP00000369427:G174R;ENSP00000369424:G218R;ENSP00000386068:G165R;ENSP00000392714:G94R	ENSP00000369424:G218R	G	-	1	0	RBBP7	16785715	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.772000	0.85439	2.351000	0.79841	0.513000	0.50165	GGT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.373	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	protein_coding	OTTHUMT00000055920.2	C	NM_002893	-		16875794	-1	no_errors	ENST00000380087	ensembl	human	known	74_37	missense	SNP	1.000	G	G	16875794	C	G	16875794	3	3	138	1	0	0	0	0	1	0	0	0	13112	681	24	4	789	4	RBBP7	23	16875794	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09		16875794	138394766	108	10400											
GRIPAP1	56850	genome.wustl.edu	37	chrX	48832524	48832524	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttccaggtgcttcacCtgcaagatggcccagcccac	8	17	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:48832524C>T	ENST00000376441.1	-	24	2219		c.e24-1		GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376444.3_Splice_Site|GRIPAP1_ENST00000376425.3_Splice_Site	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGTGCTTCACCTGCAAGATGG	0.602																																																	0								ENSG00000068400						50	35	40					X																	48832524		2203	4300	6503	GRIPAP1	SO:0001630	splice_region_variant	0			-	HGNC	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2185-1G>A	X.37:g.48832524C>T		Somatic	0	46	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Splice_Site	SNP	24	0	0	35	14.63	6	-	e24-1	ENST00000376441.1	37	c.2185-1	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820044	0.71028	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4533	0.67399	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIPAP1	48717468	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	6.951000	0.75983	2.107000	0.64212	0.534000	0.68092	.	-	-		0.602	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	protein_coding	OTTHUMT00000080970.2	C	NM_207672	-	Intron	48832524	-1	no_errors	ENST00000376441	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	48832524	C	T	48832524	5	4	138	1	0	0	0	0	0	0	1	0	6791	695	24	2	353	2	GRIPAP1	23	48832524	Splice_Site	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	31956730	48832524	106438036	109	10401											
FAM120C	54954	genome.wustl.edu	37	chrX	54160395	54160395	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgcttctgaaactccAgtatcaacaggctgtgccca	9	13	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:54160395A>T	ENST00000375180.2	-	8	1757	c.1701T>A	c.(1699-1701)acT>acA	p.T567T	FAM120C_ENST00000328235.4_Silent_p.T567T	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	567							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGAAACTCCAGTATCAACAG	0.483													A|||	4	0.0010596	0	0	3775	,	,		15482	0		0	False		,,,				2504	0.0041																0								ENSG00000184083						104	76	85					X																	54160395		2203	4300	6503	FAM120C	SO:0001819	synonymous_variant	0			-	HGNC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1701T>A	X.37:g.54160395A>T		Somatic	0	54	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	B2RMT7	Silent	SNP	34	0	0	49	31.94	23	NULL	p.T567	ENST00000375180.2	37	c.1701	CCDS14356.1	X																																																																																			-	NULL		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	A	NM_017848	-		54160395	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	silent	SNP	0.075	T	T	54160395	A	T	54160395	2	4	138	1	0	0	0	0	0	0	0	1	5420	175	7	5		5	FAM120C	23	54160395	Silent	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	5327871	54160395	101110165	110	10402											
CPXCR1	53336	genome.wustl.edu	37	chrX	88009153	88009153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagatacaaattgaaagTatttttaatataaaaggttt	5	3	1	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:88009153T>C	ENST00000276127.4	+	3	997	c.738T>C	c.(736-738)agT>agC	p.S246S	CPXCR1_ENST00000373111.1_Silent_p.S246S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	246							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AAATTGAAAGTATTTTTAATA	0.328													T|||	1	0.000264901	0	0.0014	3775	,	,		12851	0		0	False		,,,				2504	0																0								ENSG00000147183						33	30	31					X																	88009153		2202	4299	6501	CPXCR1	SO:0001819	synonymous_variant	0			-	HGNC	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.738T>C	X.37:g.88009153T>C		Somatic	0	112	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	52	17.46	B2R9F9|D3DTE7|Q96RS3	Silent	SNP	43	0	0	34	26.09	12	pfscan_Znf_C2H2	p.S246	ENST00000276127.4	37	c.738	CCDS14458.1	X																																																																																			-	NULL		0.328	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	protein_coding	OTTHUMT00000057418.1	T	NM_033048	-		88009153	1	no_errors	ENST00000276127	ensembl	human	known	74_37	silent	SNP	0.000	C	C	88009153	T	C	88009153	2	2	138	1	0	0	0	0	0	0	0	1	3838	1635	57	5		5	CPXCR1	23	88009153	Silent	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	33848758	88009153	67261407	111	10403											
ZMAT1	84460	genome.wustl.edu	37	chrX	101153192	101153192	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattttgagcatgtttttcaCcctgaaaaaagatataatat	5	6	1	3			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:101153192C>A	ENST00000372782.3	-	4	277	c.230G>T	c.(229-231)gGt>gTt	p.G77V	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Splice_Site_p.G77V	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	77						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G77D(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTTTTTCACCCTGAAAAAA	0.299																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000166432						61	52	55					X																	101153192		2202	4297	6499	ZMAT1	SO:0001630	splice_region_variant	0			-	HGNC	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.229-1G>T	X.37:g.101153192C>A		Somatic	0	47	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	Q8NDS3|Q96JN6	Missense_Mutation	SNP	51	0	0	45	26.23	16	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.G77V	ENST00000372782.3	37	c.230	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709094	0.48517	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.71461	-0.57;-0.57	4.48	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.136304	0.34291	N	0.004092	T	0.61173	0.2326	N	0.16656	0.425	0.80722	D	1	D	0.54772	0.968	P	0.49999	0.628	T	0.62895	-0.6757	10	0.49607	T	0.09	-5.2666	10.9475	0.47310	0.1881:0.8119:0.0:0.0	.	77	Q5H9K5	ZMAT1_HUMAN	V	77	ENSP00000361868:G77V;ENSP00000437529:G77V	ENSP00000361868:G77V	G	-	2	0	ZMAT1	101039848	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.352000	0.66028	1.030000	0.39839	0.279000	0.19357	GGT	-	smart_Znf_U1,smart_Znf_C2H2-like		0.299	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	protein_coding	OTTHUMT00000057598.1	C		-	Missense_Mutation	101153192	-1	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101153192	C	A	101153192	5	1	138	1	0	0	0	0	0	0	1	0	17698	521	18	3	1702	3	ZMAT1	23	101153192	Splice_Site	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	13144039	101153192	54117368	112	10404											
AGTR2	186	genome.wustl.edu	37	chrX	115303840	115303840	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctctatgggcaaccTattattcttatagatatgac	5	10	3	2			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:115303840T>A	ENST00000371906.4	+	3	497	c.307T>A	c.(307-309)Tat>Aat	p.Y103N		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	103					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	ATGGGCAACCTATTATTCTTA	0.383																																																	0								ENSG00000180772						175	171	172					X																	115303840		2203	4300	6503	AGTR2	SO:0001583	missense	0			-	HGNC	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.307T>A	X.37:g.115303840T>A	ENSP00000360973:p.Tyr103Asn	Somatic	0	57	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	36	0	0	44	29.03	18	pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.Y103N	ENST00000371906.4	37	c.307	CCDS14569.1	X	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371963	0.61624	.	.	ENSG00000180772	ENST00000371906	T	0.73152	-0.72	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	L	0.53617	1.68	0.54753	D	0.999984	D	0.89917	1.0	D	0.81914	0.995	T	0.80643	-0.1291	10	0.87932	D	0	-8.1472	10.7502	0.46205	0.0:0.0:0.0:1.0	.	103	P50052	AGTR2_HUMAN	N	103	ENSP00000360973:Y103N	ENSP00000360973:Y103N	Y	+	1	0	AGTR2	115217868	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.746000	0.85057	1.659000	0.50751	0.412000	0.27726	TAT	-	pfam_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.383	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	protein_coding	OTTHUMT00000057984.1	T	NM_000686	-		115303840	1	no_errors	ENST00000371906	ensembl	human	known	74_37	missense	SNP	0.986	A	A	115303840	T	A	115303840	3	1	138	1	0	0	0	0	1	0	0	0	402	1522	53	5	309	5	AGTR2	23	115303840	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	14150648	115303840	39966720	113	10405											
ODZ1	10178	genome.wustl.edu	37	chrX	123518624	123518624	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatgcttgtgactcggaAattgttgtagctgtagtcga	12	6	0	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:123518624A>T	ENST00000371130.3	-	29	6199	c.6136T>A	c.(6136-6138)Ttc>Atc	p.F2046I	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.F2053I	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2046					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTGACTCGGAAATTGTTGTAG	0.433																																																	0								ENSG00000009694						103	83	90					X																	123518624		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6136T>A	X.37:g.123518624A>T	ENSP00000360171:p.Phe2046Ile	Somatic	0	74	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33	B2RTR5|Q5JZ17	Missense_Mutation	SNP	41	0	0	34	30.61	15	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.F2053I	ENST00000371130.3	37	c.6157	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341539	0.81911	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86865	-2.18;-2.15	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.65975	2.015	0.80722	D	1	D;D;D	0.63880	0.993;0.976;0.983	D;P;P	0.72338	0.977;0.713;0.718	D	0.92892	0.6332	10	0.66056	D	0.02	.	14.5423	0.68005	1.0:0.0:0.0:0.0	.	2052;2053;2046	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	2046;2053	ENSP00000360171:F2046I;ENSP00000403954:F2053I	ENSP00000360171:F2046I	F	-	1	0	ODZ1	123346305	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.339000	0.96797	1.813000	0.52934	0.486000	0.48141	TTC	-	NULL		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	A	NM_014253	-		123518624	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123518624	A	T	123518624	3	4	138	1	0	0	0	0	1	0	0	0	10836	14	1	5	2053	5	ODZ1	23	123518624	Missense_Mutation	SNP	A	TCGA-FX-A3RE-01A-11D-A228-09	8214784	123518624	31751936	114	10406											
ODZ1	10178	genome.wustl.edu	37	chrX	123780640	123780640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccatttccattgcaattggTtgaacagtcatccattattt	5	9	1	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:123780640T>A	ENST00000371130.3	-	9	1663	c.1600A>T	c.(1600-1602)Acc>Tcc	p.T534S	TENM1_ENST00000422452.2_Missense_Mutation_p.T534S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	534	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTGCAATTGGTTGAACAGTCA	0.373																																																	0								ENSG00000009694						100	76	84					X																	123780640		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1600A>T	X.37:g.123780640T>A	ENSP00000360171:p.Thr534Ser	Somatic	0	35	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	B2RTR5|Q5JZ17	Missense_Mutation	SNP	35	0	0	31	38.00	19	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.T534S	ENST00000371130.3	37	c.1600	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685506	0.47991	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.65732	-0.17;-0.17	5.75	5.75	0.90469	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.124122	0.53938	D	0.000056	T	0.34629	0.0904	N	0.02334	-0.595	0.47698	D	0.999497	B;B;B	0.25719	0.132;0.031;0.012	B;B;B	0.20767	0.031;0.015;0.008	T	0.36065	-0.9763	10	0.09338	T	0.73	.	15.0069	0.71519	0.0:0.0:0.0:1.0	.	533;534;534	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	534	ENSP00000360171:T534S;ENSP00000403954:T534S	ENSP00000360171:T534S	T	-	1	0	ODZ1	123608321	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.040000	0.57333	1.926000	0.55796	0.481000	0.45027	ACC	-	pfam_EGF_extracell,smart_EG-like_dom		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	T	NM_014253	-		123780640	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	0.997	A	A	123780640	T	A	123780640	3	1	138	1	0	0	0	0	1	0	0	0	10836	1725	60	5	6694	5	ODZ1	23	123780640	Missense_Mutation	SNP	T	TCGA-FX-A3RE-01A-11D-A228-09	262016	123780640	31489920	115	10407											
GPC4	2239	genome.wustl.edu	37	chrX	132458181	132458181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagtacttaccacggagaCcttgctcacgacatctcccg	9	14	2	1			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:132458181C>A	ENST00000370828.3	-	3	1227	c.703G>T	c.(703-705)Gtc>Ttc	p.V235F	GPC4_ENST00000535467.1_Missense_Mutation_p.V165F	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	235					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCACGGAGACCTTGCTCACG	0.428																																																	0								ENSG00000076716						74	66	69					X																	132458181		2203	4300	6503	GPC4	SO:0001583	missense	0			-	HGNC	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.703G>T	X.37:g.132458181C>A	ENSP00000359864:p.Val235Phe	Somatic	0	26	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	29	0	0	48	26.15	17	pfam_Glypican	p.V235F	ENST00000370828.3	37	c.703	CCDS14637.1	X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284323	0.80803	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.55413	0.52;0.52	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80042	-0.1548	10	0.87932	D	0	-32.3707	18.3623	0.90379	0.0:1.0:0.0:0.0	.	235	O75487	GPC4_HUMAN	F	235;233;165	ENSP00000359864:V235F;ENSP00000444959:V165F	ENSP00000359864:V235F	V	-	1	0	GPC4	132285847	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.478000	0.81082	2.562000	0.86427	0.600000	0.82982	GTC	-	pfam_Glypican		0.428	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC4	protein_coding	OTTHUMT00000058338.1	C	NM_001448	-		132458181	-1	no_errors	ENST00000370828	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132458181	C	A	132458181	3	1	138	1	0	0	0	0	1	0	0	0	6602	507	18	3	995	3	GPC4	23	132458181	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	8677541	132458181	22812379	116	10408											
GDI1	2664	genome.wustl.edu	37	chrX	153668462	153668462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcgatttcactggccatgCcctggcgctctaccgcactg	9	16	2	0			TCGA-FX-A3RE-01A-11D-A228-09	TCGA-FX-A3RE-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdbbd701-9c05-4f9e-923d-06039dd8a04d	833ec0aa-f61e-49fc-acf0-ddd1a0a1f5c4	g.chrX:153668462C>G	ENST00000447750.2	+	5	898	c.563C>G	c.(562-564)gCc>gGc	p.A188G		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	188					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					ACTGGCCATGCCCTGGCGCTC	0.647																																																	0								ENSG00000203879						203	182	189					X																	153668462		2203	4300	6503	GDI1	SO:0001583	missense	0			-	HGNC	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.563C>G	X.37:g.153668462C>G	ENSP00000394071:p.Ala188Gly	Somatic	0	57	0		0.576564680334464				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	19.15	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	22	0	0	31	24.39	10	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.A188G	ENST00000447750.2	37	c.563	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979960	0.74360	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.91464	-2.85	4.78	4.78	0.61160	.	0.099426	0.64402	D	0.000002	D	0.93939	0.8060	M	0.84773	2.715	0.80722	D	1	P;B	0.36392	0.551;0.175	P;B	0.48840	0.592;0.33	D	0.94447	0.7664	10	0.59425	D	0.04	-12.1045	14.161	0.65446	0.0:1.0:0.0:0.0	.	188;188	B4DH24;P31150	.;GDIA_HUMAN	G	188;172	ENSP00000394071:A188G	ENSP00000358756:A172G	A	+	2	0	GDI1	153321656	1.000000	0.71417	0.910000	0.35882	0.873000	0.50193	7.630000	0.83225	2.212000	0.71576	0.529000	0.55759	GCC	-	pfam_GDP_dissociation_inhibitor,prints_RabGDI		0.647	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	protein_coding	OTTHUMT00000081649.2	C	NM_001493	-		153668462	1	no_errors	ENST00000447750	ensembl	human	known	74_37	missense	SNP	1.000	G	G	153668462	C	G	153668462	3	3	138	1	0	0	0	0	1	0	0	0	6322	739	26	4	581	4	GDI1	23	153668462	Missense_Mutation	SNP	C	TCGA-FX-A3RE-01A-11D-A228-09	21210281	153668462	1602098	117	10409											
CR1	1378	genome.wustl.edu	37	chr1	207760910	207760910	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgaagacaactgtagaCgtgagtaacccctccctggg	12	10	0	4			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr1:207760910C>T	ENST00000367049.4	+	34	5710	c.5710C>T	c.(5710-5712)Cga>Tga	p.R1904*	CR1_ENST00000367051.1_Splice_Site_p.R1454*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Splice_Site_p.R1454*|CR1_ENST00000367052.1_Splice_Site_p.R1454*|CR1_ENST00000367053.1_Splice_Site_p.R1454*|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1454	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						CAACTGTAGACGTGAGTAACC	0.478																																																	0								ENSG00000203710						100	94	96					1																	207760910		1880	4098	5978	CR1	SO:0001630	splice_region_variant	0			-	HGNC	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.5710+1C>T	1.37:g.207760910C>T		Somatic	0	78	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1904*	ENST00000367049.4	37	c.5710	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.019639	0.99038	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	.	.	.	3.29	0.157	0.14915	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	2.936	0.05815	0.2384:0.5137:0.0:0.2479	.	.	.	.	X	1454;1454;1454;1454;1004;1904	.	ENSP00000356016:R1904X	R	+	1	2	CR1	205827533	0.775000	0.28604	0.501000	0.27601	0.516000	0.34256	-0.008000	0.12788	0.026000	0.15269	0.655000	0.94253	CGA	-	pfscan_Sushi_SCR_CCP		0.478	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	protein_coding	OTTHUMT00000382527.1	C	NM_000573	-	Nonsense_Mutation	207760910	1	no_errors	ENST00000367049	ensembl	human	known	74_37	nonsense	SNP	0.669	T	T	207760910	C	T	207760910	5	4	139	1	0	0	0	0	0	0	1	0	3842	550	19	1	5844	1	CR1	1	207760910	Splice_Site	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		207760910	41489711	1	10410											
POTEE	445582	genome.wustl.edu	37	chr2	131976101	131976101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagagcggcaagagcaaCgtgggcacttctggagacca	16	9	1	3	rs558466498		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr2:131976101C>T	ENST00000356920.5	+	1	220	c.126C>T	c.(124-126)aaC>aaT	p.N42N	POTEE_ENST00000358087.5_Silent_p.N42N|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	42					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCAAGAGCAACGTGGGCACTT	0.592													c|||	1	0.000199681	0	0	5008	,	,		17826	0		0	False		,,,				2504	0.001																0								ENSG00000188219						131	151	144					2																	131976101		2194	4298	6492	POTEE	SO:0001819	synonymous_variant	0			-	HGNC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.126C>T	2.37:g.131976101C>T		Somatic	0	214	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	62	47.90	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.N42	ENST00000356920.5	37	c.126	CCDS46414.1	2																																																																																			-	NULL		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	protein_coding		C	NM_001083538	-		131976101	1	no_errors	ENST00000356920	ensembl	human	known	74_37	silent	SNP	0.028	T	T	131976101	C	T	131976101	2	4	139	1	0	0	0	0	0	0	0	1	12266	535	19	1		1	POTEE	2	131976101	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		131976101	111223272	2	10411											
IRS1	3667	genome.wustl.edu	37	chr2	227662528	227662528	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctggccggggaggtggcGgtgatgctctcagtgcgtga	19	8	1	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr2:227662528G>T	ENST00000305123.5	-	1	1947	c.927C>A	c.(925-927)acC>acA	p.T309T	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	309	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGAGGTGGCGGTGATGCTCT	0.701											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000169047						45	54	51					2																	227662528		2196	4291	6487	IRS1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.927C>A	2.37:g.227662528G>T		Somatic	0	69	0	2321	0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	82	15.46		Silent	SNP							pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.T309	ENST00000305123.5	37	c.927	CCDS2463.1	2																																																																																			-	NULL		0.701	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	protein_coding	OTTHUMT00000256886.3	G	NM_005544	-		227662528	-1	no_errors	ENST00000305123	ensembl	human	known	74_37	silent	SNP	0.000	T	T	227662528	G	T	227662528	2	4	139	1	0	0	0	0	0	0	0	1	7842	1103	39	3		3	IRS1	2	227662528	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	95686427	227662528	15536845	3	10412											
IRAK2	3656	genome.wustl.edu	37	chr3	10261427	10261427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggctgctctgtgccGtcgagtacctgcatggtctg	14	12	3	0	rs200632552		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr3:10261427G>A	ENST00000256458.4	+	8	1057	c.967G>A	c.(967-969)Gtc>Atc	p.V323I	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GCTCTGTGCCGTCGAGTACCT	0.602													G|||	1	0.000199681	0	0	5008	,	,		17475	0.001		0	False		,,,				2504	0																0								ENSG00000134070						72	59	63					3																	10261427		2203	4300	6503	IRAK2	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.967G>A	3.37:g.10261427G>A	ENSP00000256458:p.Val323Ile	Somatic	0	93	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	64	11.11	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V323I	ENST00000256458.4	37	c.967	CCDS33697.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.006	-2.055861	0.00390	.	.	ENSG00000134070	ENST00000256458	T	0.34072	1.38	4.92	2.8	0.32819	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.345446	0.20702	N	0.087247	T	0.11623	0.0283	N	0.04994	-0.135	0.09310	N	1	P	0.36086	0.536	B	0.26693	0.072	T	0.10660	-1.0620	10	0.17369	T	0.5	-18.5586	3.889	0.09111	0.1609:0.2945:0.5446:0.0	.	323	O43187	IRAK2_HUMAN	I	323	ENSP00000256458:V323I	ENSP00000256458:V323I	V	+	1	0	IRAK2	10236427	0.238000	0.23825	0.021000	0.16686	0.026000	0.11368	1.292000	0.33342	1.037000	0.40024	-0.311000	0.09066	GTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	protein_coding	OTTHUMT00000339623.1	G		rs200632552		10261427	1	no_errors	ENST00000256458	ensembl	human	known	74_37	missense	SNP	0.029	A	A	10261427	G	A	10261427	3	1	139	1	0	0	0	0	1	0	0	0	7825	1145	40	1	997	1	IRAK2	3	10261427	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09		10261427	187761003	4	10413											
MAP4	4134	genome.wustl.edu	37	chr3	47950560	47950560	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttatgtctctcttgtTcctggattgtagactttggc	10	8	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr3:47950560T>C	ENST00000360240.6	-	8	2518				MAP4_ENST00000264724.11_Missense_Mutation_p.E391G|MAP4_ENST00000426837.2_Missense_Mutation_p.E1801G|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.E384G	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TCTCTCTTGTTCCTGGATTGT	0.468																																																	0								ENSG00000047849						283	267	272					3																	47950560		1930	4140	6070	MAP4	SO:0001627	intron_variant	0			-	HGNC		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5746A>G	3.37:g.47950560T>C		Somatic	0	116	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	134	14.65	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP							pfam_MAP_tubulin-bd_rpt	p.E391G	ENST00000360240.6	37	c.1172	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	T	15.56	2.868613	0.51588	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000426837;ENST00000383736	T;T;T	0.37915	2.99;1.17;2.93	5.73	5.73	0.89815	.	.	.	.	.	T	0.52581	0.1743	.	.	.	0.23030	N	0.998404	D;D	0.63880	0.993;0.988	D;P	0.63033	0.91;0.76	T	0.46331	-0.9199	8	0.36615	T	0.2	.	12.6954	0.57001	0.0:0.0:0.0:1.0	.	391;391	P27816-4;E9PGM5	.;.	G	384;391;1801;391	ENSP00000373243:E384G;ENSP00000264724:E391G;ENSP00000407602:E1801G	ENSP00000264724:E391G	E	-	2	0	MAP4	47925564	0.993000	0.37304	0.939000	0.37840	0.578000	0.36192	3.029000	0.49712	2.313000	0.78055	0.454000	0.30748	GAA	-	NULL		0.468	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	protein_coding	OTTHUMT00000346085.1	T	NM_002375	-		47950560	-1	no_errors	ENST00000264724	ensembl	human	known	74_37	missense	SNP	0.971	C	C	47950560	T	C	47950560	1	2	139	0	1	0	0	0	0	0	0	0	9260	1783	62	5		5	MAP4	3	47950560	Intron	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09	37689133	47950560	150071870	5	10414											
IQCF1	132141	genome.wustl.edu	37	chr3	51937043	51937043	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggacaaatgggttggcatCtccttctgctgaggctcatc	11	10	3	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr3:51937043C>A	ENST00000310914.5	-	2	128	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	22										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTTGGCATCTCCTTCTGCT	0.512																																																	0								ENSG00000173389						487	446	460					3																	51937043		2203	4300	6503	IQCF1	SO:0001583	missense	0			-	HGNC	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.66G>T	3.37:g.51937043C>A	ENSP00000307958:p.Glu22Asp	Somatic	0	161	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	160	9.09	Q8N711	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E22D	ENST00000310914.5	37	c.66	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	C	7.901	0.734310	0.15574	.	.	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.40756	1.02	3.99	2.19	0.27852	.	2.919270	0.01905	N	0.039468	T	0.25457	0.0619	N	0.19112	0.55	0.09310	N	1	P	0.35011	0.48	B	0.27887	0.084	T	0.18209	-1.0344	10	0.13853	T	0.58	-14.7534	6.2377	0.20772	0.0:0.7732:0.0:0.2268	.	22	Q8N6M8	IQCF1_HUMAN	D	22	ENSP00000307958:E22D	ENSP00000307958:E22D	E	-	3	2	IQCF1	51912083	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.370000	0.20433	0.649000	0.30751	0.491000	0.48974	GAG	-	NULL		0.512	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	protein_coding	OTTHUMT00000346568.1	C	NM_152397	-		51937043	-1	no_errors	ENST00000310914	ensembl	human	known	74_37	missense	SNP	0.000	A	A	51937043	C	A	51937043	3	1	139	1	0	0	0	0	1	0	0	0	7809	912	32	3	563	3	IQCF1	3	51937043	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	3986483	51937043	146085387	6	10415											
EPHA6	285220	genome.wustl.edu	37	chr3	97198209	97198209	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttacagaatgggcattGtaagtagcgcagggactttc	11	9	0	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr3:97198209G>A	ENST00000514100.1	+	6	492		c.e6+1		EPHA6_ENST00000442602.2_Splice_Site|EPHA6_ENST00000389672.5_Splice_Site|EPHA6_ENST00000502694.1_Splice_Site	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AATGGGCATTGTAAGTAGCGC	0.328																																																	0								ENSG00000080224						161	178	173					3																	97198209		1846	4097	5943	EPHA6	SO:0001630	splice_region_variant	0			-	HGNC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.250+1G>A	3.37:g.97198209G>A		Somatic	0	54	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	D6RAL5	Splice_Site	SNP							-	e9+1	ENST00000514100.1	37	c.2074+1		3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887282	0.72410	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2936	0.98544	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA6	98680899	1.000000	0.71417	0.984000	0.44739	0.754000	0.42855	8.923000	0.92808	2.801000	0.96364	0.655000	0.94253	.	-	-		0.328	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	protein_coding	OTTHUMT00000359997.1	G	NM_001080448	-	Intron	97198209	1	no_errors	ENST00000389672	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	97198209	G	A	97198209	5	1	139	1	0	0	0	0	0	0	1	0	5173	1391	48	2	2177	2	EPHA6	3	97198209	Splice_Site	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	45261166	97198209	100824221	7	10416											
DNAJC13	23317	genome.wustl.edu	37	chr3	132186035	132186035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtatggaaaatttaatAaagttccagagtggcaaaga	9	4	1	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr3:132186035A>G	ENST00000260818.6	+	20	2334	c.2086A>G	c.(2086-2088)Aaa>Gaa	p.K696E	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	696					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAAATTTAATAAAGTTCCAGA	0.338																																																	0								ENSG00000138246						58	64	62					3																	132186035		2203	4300	6503	DNAJC13	SO:0001583	missense	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2086A>G	3.37:g.132186035A>G	ENSP00000260818:p.Lys696Glu	Somatic	0	37	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.K696E	ENST00000260818.6	37	c.2086	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315318	0.81358	.	.	ENSG00000138246	ENST00000260818	T	0.36157	1.27	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	N	0.24115	0.695	0.80722	D	1	B;P	0.52842	0.384;0.956	B;D	0.65010	0.088;0.931	T	0.36311	-0.9753	10	0.40728	T	0.16	.	16.4401	0.83898	1.0:0.0:0.0:0.0	.	696;696	A7E2Y5;O75165	.;DJC13_HUMAN	E	696	ENSP00000260818:K696E	ENSP00000260818:K696E	K	+	1	0	DNAJC13	133668725	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.027000	0.93706	2.340000	0.79590	0.528000	0.53228	AAA	-	superfamily_ARM-type_fold		0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	A	NM_015268	-		132186035	1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	SNP	1.000	G	G	132186035	A	G	132186035	3	3	139	1	0	0	0	0	1	0	0	0	4634	363	13	5	2160	5	DNAJC13	3	132186035	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	34987826	132186035	65836395	8	10417											
ARMC8	25852	genome.wustl.edu	37	chr3	137991910	137991910	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagattcagatttgaatgtGctgatgaagacattgggact	11	5	2	6			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr3:137991910G>T	ENST00000469044.1	+	17	1852	c.1581G>T	c.(1579-1581)gtG>gtT	p.V527V	NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Silent_p.V460V|ARMC8_ENST00000485396.1_Silent_p.V454V|ARMC8_ENST00000491704.1_Silent_p.V485V|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Silent_p.V513V|ARMC8_ENST00000393058.3_Silent_p.V517V|ARMC8_ENST00000538260.1_Silent_p.V496V	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	527										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTTGAATGTGCTGATGAAGA	0.393																																																	0								ENSG00000114098						134	129	131					3																	137991910		1848	4092	5940	ARMC8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1581G>T	3.37:g.137991910G>T		Somatic	0	40	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V527	ENST00000469044.1	37	c.1581		3																																																																																			-	superfamily_ARM-type_fold,smart_Armadillo		0.393	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	protein_coding	OTTHUMT00000357560.1	G	NM_015396	-		137991910	1	no_errors	ENST00000469044	ensembl	human	known	74_37	silent	SNP	1.000	T	T	137991910	G	T	137991910	2	4	139	1	0	0	0	0	0	0	0	1	957	1306	46	3		3	ARMC8	3	137991910	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	5805875	137991910	60030520	9	10418											
ADD1	118	genome.wustl.edu	37	chr4	2929906	2929906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacccactagaccttgtgCcggagccgactactggagat	10	14	1	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr4:2929906C>T	ENST00000398129.1	+	14	1890	c.1870C>T	c.(1870-1872)Ccg>Tcg	p.P624S	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.P655S|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P624S			P35611	ADDA_HUMAN	adducin 1 (alpha)	624					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGACCTTGTGCCGGAGCCGAC	0.557																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0								ENSG00000087274						212	239	230					4																	2929906		2203	4300	6503	ADD1	SO:0001583	missense	0			-	HGNC	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1870C>T	4.37:g.2929906C>T	ENSP00000381197:p.Pro624Ser	Somatic	0	48	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP							pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.P655S	ENST00000398129.1	37	c.1963	CCDS43205.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.575|3.575	-0.086872|-0.086872	0.07097|0.07097	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000541843|ENST00000264758;ENST00000446856;ENST00000398129	.|T;T;T	.|0.05081	.|3.5;3.56;3.56	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|0.644790	.|0.15841	.|N	.|0.242059	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.22421|0.22421	0.69|0.69	0.33060|0.33060	D|D	0.53399|0.53399	.|B;P	.|0.34724	.|0.002;0.465	.|B;B	.|0.28011	.|0.007;0.085	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.09338	.|T	.|0.73	-3.1438|-3.1438	17.0122|17.0122	0.86409|0.86409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|624;655	.|P35611;P35611-3	.|ADDA_HUMAN;.	V|S	80|655;624;624	.|ENSP00000264758:P655S;ENSP00000399828:P624S;ENSP00000381197:P624S	.|ENSP00000264758:P655S	A|P	+|+	2|1	0|0	ADD1|ADD1	2899704|2899704	1.000000|1.000000	0.71417|0.71417	0.207000|0.207000	0.23584|0.23584	0.066000|0.066000	0.16364|0.16364	4.006000|4.006000	0.57083|0.57083	2.315000|2.315000	0.78130|0.78130	0.655000|0.655000	0.94253|0.94253	GCC|CCG	-	NULL		0.557	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	protein_coding	OTTHUMT00000242840.1	C	NM_014189	-		2929906	1	no_errors	ENST00000264758	ensembl	human	known	74_37	missense	SNP	0.981	T	T	2929906	C	T	2929906	3	4	139	1	0	0	0	0	1	0	0	0	304	739	26	2	2055	2	ADD1	4	2929906	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		2929906	188224370	10	10419											
USO1	8615	genome.wustl.edu	37	chr4	76722251	76722251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttataactaaggctatTtataagtccagtgaagaaga	10	4	0	3			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr4:76722251T>G	ENST00000538159.1	+	18	1911	c.1911T>G	c.(1909-1911)atT>atG	p.I637M	USO1_ENST00000514213.2_Missense_Mutation_p.I613M			O60763	USO1_HUMAN	USO1 vesicle transport factor	628	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTAAGGCTATTTATAAGTCCA	0.259																																																	0								ENSG00000138768						48	42	44					4																	76722251		1789	4049	5838	USO1	SO:0001583	missense	0			-	HGNC	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1911T>G	4.37:g.76722251T>G	ENSP00000440586:p.Ile637Met	Somatic	0	26	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP							pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.I637M	ENST00000538159.1	37	c.1911		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.89|15.89	2.967962|2.967962	0.53507|0.53507	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T;T	.|0.69435	.|-0.4;-0.4	5.6|5.6	4.41|4.41	0.53225|0.53225	.|Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	.|0.050767	.|0.85682	.|D	.|0.000000	T|T	0.68247|0.68247	0.2980|0.2980	L|L	0.34521|0.34521	1.04|1.04	0.41510|0.41510	D|D	0.988331|0.988331	.|P;P	.|0.52170	.|0.951;0.686	.|P;P	.|0.60682	.|0.8;0.878	T|T	0.69591|0.69591	-0.5104|-0.5104	5|10	.|0.72032	.|D	.|0.01	.|.	8.5608|8.5608	0.33509|0.33509	0.0:0.2156:0.0:0.7844|0.0:0.2156:0.0:0.7844	.|.	.|637;628	.|F5GYR8;O60763	.|.;USO1_HUMAN	C|M	304|463;637;613;556	.|ENSP00000440586:I637M;ENSP00000444850:I613M	.|ENSP00000264904:I556M	F|I	+|+	2|3	0|3	USO1|USO1	76941275|76941275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.014000|1.014000	0.29950|0.29950	0.951000|0.951000	0.37770|0.37770	0.455000|0.455000	0.32223|0.32223	TTT|ATT	-	pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold		0.259	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	protein_coding		T	NM_003715	-		76722251	1	no_errors	ENST00000538159	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76722251	T	G	76722251	3	3	139	1	0	0	0	0	1	0	0	0	17046	1829	64	5	1791	5	USO1	4	76722251	Missense_Mutation	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09	73792345	76722251	114432025	11	10420											
PDLIM5	10611	genome.wustl.edu	37	chr4	95508214	95508214	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatgaagtttcagcacGtgctcttaacgtacagtgat	9	10	2	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr4:95508214G>A	ENST00000317968.4	+	7	1056				PDLIM5_ENST00000380180.3_Missense_Mutation_p.R229H|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000318007.5_Missense_Mutation_p.R209H|PDLIM5_ENST00000538141.1_Missense_Mutation_p.R209H|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.R229H|PDLIM5_ENST00000508216.1_Missense_Mutation_p.R229H|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000514743.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.R229H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTTTCAGCACGTGCTCTTAAC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000163110						60	58	59					4																	95508214		1878	4110	5988	PDLIM5	SO:0001627	intron_variant	0			-	HGNC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.920+619G>A	4.37:g.95508214G>A		Somatic	0	60	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	15	54.55	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R229H	ENST00000317968.4	37	c.686	CCDS3641.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.482999|3.482999	0.63962|0.63962	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000508216|ENST00000513341	T;T;T;T;T|.	0.37235|.	1.69;1.48;1.69;1.21;1.69|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	T|T	0.59059|0.59059	0.2166|0.2166	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;B|.	0.76494|.	0.999;0.045|.	D;B|.	0.78314|.	0.991;0.016|.	T|T	0.52555|0.52555	-0.8560|-0.8560	9|5	0.30854|.	T|.	0.27|.	.|.	19.4745|19.4745	0.94982|0.94982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;209|.	Q96HC4-2;Q96HC4-3|.	.;.|.	H|M	229;209;229;209;229|191	ENSP00000369527:R229H;ENSP00000322021:R209H;ENSP00000401579:R229H;ENSP00000439795:R209H;ENSP00000426804:R229H|.	ENSP00000322021:R209H|.	R|V	+|+	2|1	0|0	PDLIM5|PDLIM5	95727237|95727237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.420000|9.420000	0.97426|0.97426	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	CGT|GTG	-	NULL		0.378	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	protein_coding	OTTHUMT00000253586.1	G		-		95508214	1	no_errors	ENST00000380180	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95508214	G	A	95508214	1	1	139	0	1	0	0	0	0	0	0	0	11685	1145	40	1		1	PDLIM5	4	95508214	Intron	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	18785963	95508214	95646062	12	10421											
CTNND2	1501	genome.wustl.edu	37	chr5	11236827	11236827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttaattttgttgtctccAaaacagaggtgttgcaagta	9	6	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr5:11236827A>G	ENST00000304623.8	-	10	1926	c.1737T>C	c.(1735-1737)ttT>ttC	p.F579F	CTNND2_ENST00000359640.2_Silent_p.F579F|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.F488F|CTNND2_ENST00000458100.2_Silent_p.F146F|CTNND2_ENST00000503622.1_Silent_p.F242F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	579					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTTGTCTCCAAAACAGAGGT	0.473																																																	0								ENSG00000169862						115	120	119					5																	11236827		2203	4300	6503	CTNND2	SO:0001819	synonymous_variant	0			-	HGNC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1737T>C	5.37:g.11236827A>G		Somatic	0	27	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.F579	ENST00000304623.8	37	c.1737	CCDS3881.1	5																																																																																			-	superfamily_ARM-type_fold		0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	A	NM_001332	-		11236827	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	SNP	0.952	G	G	11236827	A	G	11236827	2	3	139	1	0	0	0	0	0	0	0	1	4022	127	5	5		5	CTNND2	5	11236827	Silent	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09		11236827	169678433	13	10422											
PCDHA3	56145	genome.wustl.edu	37	chr5	140180904	140180904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctgaggaggccaagcAtggcaccttcgtgggccgca	14	13	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr5:140180904A>T	ENST00000522353.2	+	1	122	c.122A>T	c.(121-123)cAt>cTt	p.H41L	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H41L	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	41	Cadherin 1. {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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCCAAGCATGGCACCTTC	0.672																																																	0								ENSG00000255408						58	66	63					5																	140180904		2203	4300	6503	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.122A>T	5.37:g.140180904A>T	ENSP00000429808:p.His41Leu	Somatic	0	105	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	83	33.33	O75286	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H41L	ENST00000522353.2	37	c.122	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	a	15.40	2.823204	0.50739	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27104	1.69;1.69	4.48	4.48	0.54585	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.41194	U	0.000930	T	0.37348	0.1000	M	0.72576	2.205	0.28086	N	0.93199	P;D	0.57257	0.943;0.979	B;P	0.50590	0.349;0.645	T	0.36841	-0.9731	10	0.72032	D	0.01	.	11.1226	0.48300	0.8338:0.1662:0.0:0.0	.	41;41	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	41	ENSP00000429808:H41L;ENSP00000434086:H41L	ENSP00000429808:H41L	H	+	2	0	PCDHA3	140161088	0.000000	0.05858	1.000000	0.80357	0.760000	0.43138	-0.241000	0.08940	1.807000	0.52817	0.477000	0.44152	CAT	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	A	NM_018906	-		140180904	1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140180904	A	T	140180904	3	4	139	1	0	0	0	0	1	0	0	0	11527	217	8	5	124	5	PCDHA3	5	140180904	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	128944077	140180904	40734356	14	10423											
PSMB8	5696	genome.wustl.edu	37	chr6	32808751	32808751	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccattattgattggcttcCcggtactggtgcagcaggtc	11	11	0	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr6:32808751C>G	ENST00000374882.3	-	6	866	c.816G>C	c.(814-816)cgG>cgC	p.R272R	TAP2_ENST00000374899.4_5'Flank|PSMB8_ENST00000374881.2_Silent_p.R268R|TAP2_ENST00000374897.2_5'Flank|TAP2_ENST00000452392.2_5'Flank|PSMB8_ENST00000395339.3_Silent_p.R248R	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	272					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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	GATTGGCTTCCCGGTACTGGT	0.512																																					NSCLC(48;53 1172 10859 13624 22883)												0								ENSG00000204264						151	125	134					6																	32808751		2203	4300	6503	PSMB8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.816G>C	6.37:g.32808751C>G		Somatic	0	57	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	30	45.45	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP							pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.R272	ENST00000374882.3	37	c.816	CCDS4757.1	6																																																																																			-	NULL		0.512	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	protein_coding	OTTHUMT00000076617.3	C	NM_148919	-		32808751	-1	no_errors	ENST00000374882	ensembl	human	known	74_37	silent	SNP	0.772	G	G	32808751	C	G	32808751	2	3	139	1	0	0	0	0	0	0	0	1	12688	610	22	4		4	PSMB8	6	32808751	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		32808751	138306316	15	10424											
SLC29A4	222962	genome.wustl.edu	37	chr7	5336737	5336737	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgctcttctataccacaCggccgcgtgacagccaccgg	10	16	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr7:5336737C>A	ENST00000396872.3	+	7	951	c.790C>A	c.(790-792)Cgg>Agg	p.R264R	SLC29A4_ENST00000297195.4_Silent_p.R264R|SLC29A4_ENST00000406453.3_Silent_p.R250R			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	264					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CTATACCACACGGCCGCGTGA	0.652																																																	0								ENSG00000164638						38	38	38					7																	5336737		2200	4298	6498	SLC29A4	SO:0001819	synonymous_variant	0			-	HGNC	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.790C>A	7.37:g.5336737C>A		Somatic	0	97	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	36	36.84	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP							pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.R264	ENST00000396872.3	37	c.790	CCDS5340.1	7																																																																																			-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt		0.652	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	protein_coding	OTTHUMT00000060118.6	C	NM_153247	-		5336737	1	no_errors	ENST00000297195	ensembl	human	known	74_37	silent	SNP	0.822	A	A	5336737	C	A	5336737	2	1	139	1	0	0	0	0	0	0	0	1	14545	527	19	3		3	SLC29A4	7	5336737	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		5336737	153801926	16	10425											
MAGI2	9863	genome.wustl.edu	37	chr7	77797353	77797353	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcccatcaacatacaCaagctcatctcctgggtgaa	7	12	3	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr7:77797353C>G	ENST00000354212.4	-	15	2729	c.2476G>C	c.(2476-2478)Gtg>Ctg	p.V826L	MAGI2_ENST00000419488.1_Missense_Mutation_p.V812L|MAGI2_ENST00000522391.1_Missense_Mutation_p.V826L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	826	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCAACATACACAAGCTCATCT	0.542																																																	0								ENSG00000187391						142	129	133					7																	77797353		2203	4300	6503	MAGI2	SO:0001583	missense	0			-	HGNC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2476G>C	7.37:g.77797353C>G	ENSP00000346151:p.Val826Leu	Somatic	0	88	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	83	30.83	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.V826L	ENST00000354212.4	37	c.2476	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608802	0.46527	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.20738	2.05;2.05;2.05	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.32987	U	0.005402	T	0.09468	0.0233	N	0.01824	-0.7	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.28996	-1.0026	10	0.32370	T	0.25	.	14.2673	0.66126	0.1486:0.8514:0.0:0.0	.	826;812;826	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	L	812;826;826;826	ENSP00000405766:V812L;ENSP00000346151:V826L;ENSP00000428389:V826L	ENSP00000346151:V826L	V	-	1	0	MAGI2	77635289	0.919000	0.31177	0.975000	0.42487	0.981000	0.71138	1.805000	0.38883	2.831000	0.97527	0.650000	0.86243	GTG	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.542	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	protein_coding	OTTHUMT00000253197.3	C	NM_012301	-		77797353	-1	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	SNP	0.981	G	G	77797353	C	G	77797353	3	3	139	1	0	0	0	0	1	0	0	0	9193	478	17	4	1923	4	MAGI2	7	77797353	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	72460616	77797353	81341310	17	10426											
NPTX2	4885	genome.wustl.edu	37	chr7	98256505	98256505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccctgtttgtcagtgAcggcaagtggcaccacatct	11	13	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr7:98256505A>G	ENST00000265634.3	+	4	1082	c.917A>G	c.(916-918)gAc>gGc	p.D306G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	306	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGTCAGTGACGGCAAGTGG	0.637																																																	0								ENSG00000106236						83	70	74					7																	98256505		2203	4300	6503	NPTX2	SO:0001583	missense	0			-	HGNC		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.917A>G	7.37:g.98256505A>G	ENSP00000265634:p.Asp306Gly	Somatic	0	71	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	54	39.33	A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.D306G	ENST00000265634.3	37	c.917	CCDS5657.1	7	.	.	.	.	.	.	.	.	.	.	A	28.2	4.895556	0.91962	.	.	ENSG00000106236	ENST00000265634	T	0.62232	0.04	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86768	0.1971	10	0.66056	D	0.02	-21.8799	14.8627	0.70392	1.0:0.0:0.0:0.0	.	306	P47972	NPTX2_HUMAN	G	306	ENSP00000265634:D306G	ENSP00000265634:D306G	D	+	2	0	NPTX2	98094441	1.000000	0.71417	0.912000	0.35992	0.971000	0.66376	9.287000	0.95975	2.163000	0.67991	0.528000	0.53228	GAC	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.637	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	protein_coding	OTTHUMT00000334982.1	A	NM_002523	-		98256505	1	no_errors	ENST00000265634	ensembl	human	known	74_37	missense	SNP	1.000	G	G	98256505	A	G	98256505	3	3	139	1	0	0	0	0	1	0	0	0	10605	275	10	5	931	5	NPTX2	7	98256505	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	20459152	98256505	60882158	18	10427											
KEL	3792	genome.wustl.edu	37	chr7	142643361	142643361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgggctcgaagaacGtgcctgtctcctccacgcac	11	16	1	1	rs371010057		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr7:142643361G>A	ENST00000355265.2	-	11	1721	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	416					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCGAAGAACGTGCCTGTCTC	0.582													G|||	1	0.000199681	0	0	5008	,	,		18518	0		0	False		,,,				2504	0.001																0								ENSG00000197993	G	MET/THR	0,4406		0,0,2203	96	82	87		1247	3.6	0	7		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	KEL	NM_000420.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	416/733	142643361	1,13005	2203	4300	6503	KEL	SO:0001583	missense	0			-	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1247C>T	7.37:g.142643361G>A	ENSP00000347409:p.Thr416Met	Somatic	0	51	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T416M	ENST00000355265.2	37	c.1247	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956219	0.34565	0.0	1.16E-4	ENSG00000197993	ENST00000355265	T	0.74526	-0.85	4.48	3.59	0.41128	Peptidase M13 (1);	1.462760	0.04250	N	0.338467	T	0.77896	0.4199	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	P	0.55545	0.778	T	0.62872	-0.6762	10	0.62326	D	0.03	-9.7875	9.6704	0.40008	0.0:0.0:0.7922:0.2078	.	416	P23276	KELL_HUMAN	M	416	ENSP00000347409:T416M	ENSP00000347409:T416M	T	-	2	0	KEL	142353483	0.662000	0.27439	0.038000	0.18304	0.071000	0.16799	1.703000	0.37846	1.074000	0.40909	0.462000	0.41574	ACG	-	pfam_Peptidase_M13_N		0.582	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	G	NM_000420	-		142643361	-1	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	SNP	0.208	A	A	142643361	G	A	142643361	3	1	139	1	0	0	0	0	1	0	0	0	8144	1145	40	1	987	1	KEL	7	142643361	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	44386856	142643361	16495302	19	10428											
FAM86B1	85002	genome.wustl.edu	37	chr8	12044262	12044262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctgcaaggtagagggcGgcatcccatgtgaccaggcc	13	12	1	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr8:12044262G>A	ENST00000448228.2	-	4	370	c.321C>T	c.(319-321)gcC>gcT	p.A107A	FAM86B1_ENST00000533852.2_Silent_p.A141A|FAM86B1_ENST00000534520.1_Silent_p.A107A|FAM86B1_ENST00000321602.8_Missense_Mutation_p.P2L|FAM86B1_ENST00000533513.1_Silent_p.A141A	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	107										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GGTAGAGGGCGGCATCCCATG	0.612																																																	0								ENSG00000186523						1	1	1					8																	12044262		473	1093	1566	FAM86B1	SO:0001819	synonymous_variant	0			-	HGNC	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.321C>T	8.37:g.12044262G>A		Somatic	0	13	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00		Missense_Mutation	SNP							NULL	p.P2L	ENST00000448228.2	37	c.5	CCDS59512.1	8	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.469420	0.00169	.	.	ENSG00000186523	ENST00000321602;ENST00000526802	T	0.30714	1.52	1.17	-0.949	0.10376	.	.	.	.	.	T	0.19604	0.0471	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08166	-1.0735	8	0.87932	D	0	.	2.4515	0.04519	0.3509:0.0:0.425:0.2241	.	2;39	F6QN85;Q4KMP3	.;.	L	2;103	ENSP00000439686:P2L	ENSP00000439686:P2L	P	-	2	0	FAM86B1	12081671	0.000000	0.05858	0.092000	0.20876	0.049000	0.14656	-3.087000	0.00610	-0.554000	0.06150	-1.169000	0.01745	CCG	-	NULL		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	protein_coding	OTTHUMT00000383317.1	G	NM_032916	-		12044262	-1	no_errors	ENST00000321602	ensembl	human	known	74_37	missense	SNP	0.966	A	A	12044262	G	A	12044262	2	1	139	1	0	0	0	0	0	0	0	1	5646	1103	39	1		1	FAM86B1	8	12044262	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09		12044262	134319760	20	10429											
PREX2	80243	genome.wustl.edu	37	chr8	69058476	69058476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catatcaagcagaaggaagtCggcaagctctgaaagtttac	10	8	2	2	rs267601977		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr8:69058476C>T	ENST00000288368.4	+	34	4397	c.4120C>T	c.(4120-4122)Cgg>Tgg	p.R1374W		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1374					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAGGAAGTCGGCAAGCTCT	0.328																																																	0								ENSG00000046889						86	83	84					8																	69058476		2203	4300	6503	PREX2	SO:0001583	missense	0			-	HGNC	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4120C>T	8.37:g.69058476C>T	ENSP00000288368:p.Arg1374Trp	Somatic	0	36	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP							pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R1374W	ENST00000288368.4	37	c.4120	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269838	0.80469	.	.	ENSG00000046889	ENST00000288368	T	0.50001	0.76	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.72340	-0.4323	10	0.87932	D	0	.	15.6524	0.77108	0.2484:0.7516:0.0:0.0	.	1374	Q70Z35	PREX2_HUMAN	W	1374	ENSP00000288368:R1374W	ENSP00000288368:R1374W	R	+	1	2	PREX2	69221030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.514000	0.53422	1.487000	0.48415	0.650000	0.86243	CGG	-	NULL		0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	protein_coding	OTTHUMT00000378620.1	C	NM_025170	-		69058476	1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69058476	C	T	69058476	3	4	139	1	0	0	0	0	1	0	0	0	12482	875	31	1	4483	1	PREX2	8	69058476	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	57014214	69058476	77305546	21	10430											
RIPK2	8767	genome.wustl.edu	37	chr8	90796327	90796327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacaagaagaaaatggAattatctctgaacatacctg	8	6	1	4			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr8:90796327A>C	ENST00000220751.4	+	8	1303	c.989A>C	c.(988-990)gAa>gCa	p.E330A	RIPK2_ENST00000540020.1_Missense_Mutation_p.E193A	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	330					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AAGAAAATGGAATTATCTCTG	0.284																																																	0								ENSG00000104312						69	72	71					8																	90796327		2203	4296	6499	RIPK2	SO:0001583	missense	0			-	HGNC	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.989A>C	8.37:g.90796327A>C	ENSP00000220751:p.Glu330Ala	Somatic	0	40	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B7Z748|Q6UWF0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom	p.E330A	ENST00000220751.4	37	c.989	CCDS6247.1	8	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643287	0.29246	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.81247	-1.24;-1.47	5.73	0.185	0.15096	.	0.158787	0.29185	N	0.012883	T	0.60560	0.2278	N	0.17082	0.46	0.09310	N	0.999998	B	0.14438	0.01	B	0.09377	0.004	T	0.45527	-0.9255	10	0.29301	T	0.29	-9.2712	6.9903	0.24751	0.4624:0.4563:0.0813:0.0	.	330	O43353	RIPK2_HUMAN	A	330;193	ENSP00000220751:E330A;ENSP00000441623:E193A	ENSP00000220751:E330A	E	+	2	0	RIPK2	90865468	0.870000	0.30015	0.144000	0.22314	0.879000	0.50718	1.497000	0.35649	0.145000	0.18977	0.533000	0.62120	GAA	-	pirsf_Rcpt-int_Ser/Thr_kinase-2		0.284	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK2	protein_coding	OTTHUMT00000375686.1	A		-		90796327	1	no_errors	ENST00000220751	ensembl	human	known	74_37	missense	SNP	0.153	C	C	90796327	A	C	90796327	3	2	139	1	0	0	0	0	1	0	0	0	13389	246	9	5	1019	5	RIPK2	8	90796327	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	21737851	90796327	55567695	22	10431											
UBAP1	51271	genome.wustl.edu	37	chr9	34241448	34241449	+	Frame_Shift_Del	DEL	AG	AG	-													cagcagtagtgccacgaaacAgaaagttctcagcccacctc							TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr9:34241448_34241449delAG	ENST00000297661.4	+	4	660_661	c.425_426delAG	c.(424-426)cagfs	p.Q142fs	UBAP1_ENST00000359544.2_Frame_Shift_Del_p.Q142fs|UBAP1_ENST00000545103.1_Frame_Shift_Del_p.Q206fs|UBAP1_ENST00000379186.4_Frame_Shift_Del_p.Q142fs|UBAP1_ENST00000543944.1_Frame_Shift_Del_p.Q178fs|UBAP1_ENST00000536252.1_Frame_Shift_Del_p.Q142fs|UBAP1_ENST00000540348.1_Frame_Shift_Del_p.Q142fs	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	142					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GCCACGAAACAGAAAGTTCTCA	0.47																																					NSCLC(109;1074 1634 14978 20375 39620)												0								ENSG00000165006																																			UBAP1	SO:0001589	frameshift_variant	0				HGNC	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.425_426delAG	9.37:g.34241448_34241449delAG	ENSP00000297661:p.Gln142fs	Somatic	0	22	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Frame_Shift_Del	DEL							superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.K207fs	ENST00000297661.4	37	c.617_618	CCDS6550.1	9																																																																																			-	NULL		0.47	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	protein_coding	OTTHUMT00000001084.1	AG				34241449	1	no_errors	ENST00000545103	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	34241449	AG	-	34241448	7	5	139	1	0	1	0	1	0	0	0	0	16843	188	7	0	672	0	UBAP1	9	34241448	Frame_Shift_Del	DEL	AG	TCGA-FX-A3TO-01A-11D-A228-09		34241448	106971983	23	10432											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39171379	39171379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttacctgctgtgacattCcttggtgactgtcccggctg	11	12	0	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr9:39171379C>T	ENST00000297668.6	-	8	1393	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	CNTNAP3_ENST00000377653.2_5'Flank|CNTNAP3_ENST00000377656.2_Silent_p.R440R|CNTNAP3_ENST00000323947.7_Silent_p.R440R|CNTNAP3_ENST00000358144.2_Silent_p.R352R|CNTNAP3_ENST00000377659.1_Silent_p.R440R	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	440	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTGACATTCCTTGGTGACT	0.473																																																	0								ENSG00000106714						139	131	134					9																	39171379		2203	4300	6503	CNTNAP3	SO:0001819	synonymous_variant	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1320G>A	9.37:g.39171379C>T		Somatic	0	178	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	128	15.79	B1AMA0|Q9C0E9	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R440	ENST00000297668.6	37	c.1320	CCDS6616.1	9																																																																																			-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.473	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	C	NM_033655	-		39171379	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	silent	SNP	0.001	T	T	39171379	C	T	39171379	2	4	139	1	0	0	0	0	0	0	0	1	3650	854	30	2		2	CNTNAP3	9	39171379	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	4929931	39171379	102042052	24	10433											
GALNT12	79695	genome.wustl.edu	37	chr9	101589137	101589137	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgagcccggctgctgggGgcgtctgcggcgaggggcga	22	11	1	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr9:101589137G>C	ENST00000375011.3	+	3	645	c.645G>C	c.(643-645)ggG>ggC	p.G215G		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	215	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGCTGCTGGGGGCGTCTGCGG	0.662																																																	0								ENSG00000119514						29	28	29					9																	101589137		2202	4299	6501	GALNT12	SO:0001819	synonymous_variant	0			-	HGNC	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.645G>C	9.37:g.101589137G>C		Somatic	0	55	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G215	ENST00000375011.3	37	c.645	CCDS6737.1	9																																																																																			-	pfam_Glyco_trans_2		0.662	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	protein_coding	OTTHUMT00000053382.1	G	NM_024642	-		101589137	1	no_errors	ENST00000375011	ensembl	human	known	74_37	silent	SNP	0.934	C	C	101589137	G	C	101589137	2	2	139	1	0	0	0	0	0	0	0	1	6212	1219	43	4		4	GALNT12	9	101589137	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	62417758	101589137	39624294	25	10434											
OR1B1	347169	genome.wustl.edu	37	chr9	125391322	125391322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccagcaaagaggcaggaCgagtcccacacgcaacatgg	12	12	0	1	rs374643352		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr9:125391322C>T	ENST00000304833.3	-	1	530	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	165						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(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGAGGCAGGACGAGTCCCACA	0.542																																																	0								ENSG00000171484	C	ILE/VAL	0,4406		0,0,2203	83	65	71		493	-0.1	0.1	9		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1B1	NM_001004450.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	165/319	125391322	1,13005	2203	4300	6503	OR1B1	SO:0001583	missense	0			-	HGNC	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.493G>A	9.37:g.125391322C>T	ENSP00000303151:p.Val165Ile	Somatic	0	32	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	Q6IFN3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V165I	ENST00000304833.3	37	c.493	CCDS35126.1	9	.	.	.	.	.	.	.	.	.	.	C	0.629	-0.818135	0.02776	0.0	1.16E-4	ENSG00000171484	ENST00000304833	T	0.00099	8.73	4.3	-0.0793	0.13711	GPCR, rhodopsin-like superfamily (1);	0.595213	0.13917	N	0.353858	T	0.00109	0.0003	N	0.16743	0.435	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.11616	-1.0580	10	0.48119	T	0.1	-1.8105	7.9984	0.30282	0.0:0.2544:0.3382:0.4074	.	165	Q8NGR6	OR1B1_HUMAN	I	165	ENSP00000303151:V165I	ENSP00000303151:V165I	V	-	1	0	OR1B1	124431143	0.000000	0.05858	0.112000	0.21494	0.001000	0.01503	-1.548000	0.02184	-0.361000	0.08125	-1.966000	0.00469	GTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	protein_coding	OTTHUMT00000053947.2	C	NM_001004450	-		125391322	-1	no_errors	ENST00000304833	ensembl	human	known	74_37	missense	SNP	0.001	T	T	125391322	C	T	125391322	3	4	139	1	0	0	0	0	1	0	0	0	10953	536	19	1	466	1	OR1B1	9	125391322	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	23802185	125391322	15822109	26	10435											
LHX2	9355	genome.wustl.edu	37	chr9	126777694	126777694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgggcgcagcaggggCcaaccctctgggtcttccct	16	14	2	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr9:126777694C>T	ENST00000373615.4	+	3	1356	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	206					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAGCAGGGGCCAACCCTCTG	0.716																																																	0								ENSG00000106689						12	16	15					9																	126777694		2169	4207	6376	LHX2	SO:0001583	missense	0			-	HGNC	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.617C>T	9.37:g.126777694C>T	ENSP00000362717:p.Ala206Val	Somatic	0	27	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A206V	ENST00000373615.4	37	c.617	CCDS6853.1	9	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298242	0.40694	.	.	ENSG00000106689	ENST00000373615	D	0.84223	-1.82	5.15	4.25	0.50352	.	0.061294	0.64402	D	0.000004	T	0.76478	0.3993	L	0.36672	1.1	0.42323	D	0.992267	B;B	0.20887	0.02;0.049	B;B	0.19946	0.027;0.026	T	0.69833	-0.5038	10	0.14656	T	0.56	.	12.1616	0.54107	0.0:0.9176:0.0:0.0824	.	206;206	B3KNJ5;P50458	.;LHX2_HUMAN	V	206	ENSP00000362717:A206V	ENSP00000362717:A206V	A	+	2	0	LHX2	125817515	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.657000	0.61490	2.388000	0.81334	0.462000	0.41574	GCC	-	NULL		0.716	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX2	protein_coding	OTTHUMT00000054010.2	C		-		126777694	1	no_errors	ENST00000373615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126777694	C	T	126777694	3	4	139	1	0	0	0	0	1	0	0	0	8773	739	26	2	627	2	LHX2	9	126777694	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	1386372	126777694	14435737	27	10436											
ITGA8	8516	genome.wustl.edu	37	chr10	15719609	15719609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgccagtagaaactccCaggtcctcccacaataaggt	7	14	0	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr10:15719609C>A	ENST00000378076.3	-	6	1011	c.658G>T	c.(658-660)Ggg>Tgg	p.G220W		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	220					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)			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						TAGAAACTCCCAGGTCCTCCC	0.373																																																	0								ENSG00000077943						120	112	115					10																	15719609		2203	4300	6503	ITGA8	SO:0001583	missense	0			-	HGNC	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.658G>T	10.37:g.15719609C>A	ENSP00000367316:p.Gly220Trp	Somatic	0	45	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	B0YJ31|Q5VX94	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G220W	ENST00000378076.3	37	c.658	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457616	0.84317	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.30448	1.53	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76710	-0.2859	10	0.72032	D	0.01	.	19.582	0.95471	0.0:1.0:0.0:0.0	.	220;220	F5H818;P53708	.;ITA8_HUMAN	W	220	ENSP00000367316:G220W	ENSP00000367316:G220W	G	-	1	0	ITGA8	15759615	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.084000	0.76866	2.638000	0.89438	0.557000	0.71058	GGG	-	smart_Int_alpha_beta-p		0.373	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	protein_coding	OTTHUMT00000046987.1	C	NM_003638	-		15719609	-1	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15719609	C	A	15719609	3	1	139	1	0	0	0	0	1	0	0	0	7884	594	21	3	2633	3	ITGA8	10	15719609	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		15719609	119815138	28	10437											
HERC4	26091	genome.wustl.edu	37	chr10	69832684	69832684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctagctgtcctagatcaTtacatccacatgtgtacact	6	12	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr10:69832684T>C	ENST00000395198.3	-	3	429	c.182A>G	c.(181-183)aAt>aGt	p.N61S	HERC4_ENST00000492996.2_Missense_Mutation_p.N61S|HERC4_ENST00000373700.4_Missense_Mutation_p.N61S|HERC4_ENST00000412272.2_Missense_Mutation_p.N61S|HERC4_ENST00000395187.2_Missense_Mutation_p.N61S	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	61					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCTAGATCATTACATCCACA	0.323																																																	0								ENSG00000148634						117	113	114					10																	69832684		2203	4300	6503	HERC4	SO:0001583	missense	0			-	HGNC	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.182A>G	10.37:g.69832684T>C	ENSP00000378624:p.Asn61Ser	Somatic	0	92	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	53.49	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.N61S	ENST00000395198.3	37	c.182	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357609	0.82243	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000395187;ENST00000513996;ENST00000492996	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-1.96;-2.33;-1.96	4.78	4.78	0.61160	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.110748	0.64402	D	0.000012	D	0.92861	0.7729	M	0.80982	2.52	0.80722	D	1	P;D;P;P;P	0.63880	0.518;0.993;0.92;0.648;0.698	B;D;P;P;P	0.77557	0.147;0.99;0.742;0.523;0.654	D	0.93055	0.6469	9	.	.	.	.	12.9004	0.58123	0.0:0.0:0.0:1.0	.	61;61;61;61;61	Q5GLZ8-3;Q5GLZ8-4;A8K9U4;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	S	61	ENSP00000416504:N61S;ENSP00000378624:N61S;ENSP00000362804:N61S;ENSP00000378614:N61S;ENSP00000427191:N61S;ENSP00000422383:N61S	.	N	-	2	0	HERC4	69502690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	1.780000	0.52325	0.533000	0.62120	AAT	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.323	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	protein_coding	OTTHUMT00000359262.1	T	NM_015601	-		69832684	-1	no_errors	ENST00000395198	ensembl	human	known	74_37	missense	SNP	1.000	C	C	69832684	T	C	69832684	3	2	139	1	0	0	0	0	1	0	0	0	7062	1493	52	5	3087	5	HERC4	10	69832684	Missense_Mutation	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09	54113075	69832684	65702063	29	10438											
DCHS1	8642	genome.wustl.edu	37	chr11	6652903	6652903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaacgtggggctgtTgtcgttgaggtcaagcactg	16	8	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr11:6652903T>C	ENST00000299441.3	-	7	4030	c.3619A>G	c.(3619-3621)Aac>Gac	p.N1207D	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1207	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGGCTGTTGTCGTTGAGG	0.597																																																	0								ENSG00000166341						61	51	55					11																	6652903		2201	4296	6497	DCHS1	SO:0001583	missense	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3619A>G	11.37:g.6652903T>C	ENSP00000299441:p.Asn1207Asp	Somatic	0	45	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	O15098	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N1207D	ENST00000299441.3	37	c.3619	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076880	0.76415	.	.	ENSG00000166341	ENST00000299441	T	0.23552	1.9	5.37	4.22	0.49857	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.132693	0.33834	N	0.004505	T	0.45657	0.1353	M	0.93854	3.465	0.54753	D	0.99998	P	0.48694	0.914	P	0.46419	0.516	T	0.58165	-0.7684	10	0.62326	D	0.03	.	11.4164	0.49954	0.0:0.0:0.1877:0.8123	.	1207	Q96JQ0	PCD16_HUMAN	D	1207	ENSP00000299441:N1207D	ENSP00000299441:N1207D	N	-	1	0	DCHS1	6609479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.657000	0.61490	0.993000	0.38866	0.533000	0.62120	AAC	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	T	NM_003737	-		6652903	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	SNP	1.000	C	C	6652903	T	C	6652903	3	2	139	1	0	0	0	0	1	0	0	0	4289	1812	63	5	6337	5	DCHS1	11	6652903	Missense_Mutation	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09		6652903	128353613	30	10439											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159469	18159469	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attcagtgggccctgttttcCaggatccacctggattggaa	11	10	1	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr11:18159469C>G	ENST00000396275.2	+	3	1081	c.720C>G	c.(718-720)tcC>tcG	p.S240S		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCTGTTTTCCAGGATCCACC	0.512																																																	0								ENSG00000179826						101	97	98					11																	18159469		2200	4293	6493	MRGPRX3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.720C>G	11.37:g.18159469C>G		Somatic	0	57	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	33	42.11	B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S240	ENST00000396275.2	37	c.720	CCDS7830.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	C	NM_054031	-		18159469	1	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	SNP	0.170	G	G	18159469	C	G	18159469	2	3	139	1	0	0	0	0	0	0	0	1	9770	581	21	4		4	MRGPRX3	11	18159469	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	11506566	18159469	116847047	31	10440											
CTNND1	1500	genome.wustl.edu	37	chr11	57575922	57575922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttctgccatagctgacCtcctgactaatgaacatgaa	6	12	2	4			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr11:57575922C>T	ENST00000399050.4	+	14	2688	c.2152C>T	c.(2152-2154)Ctc>Ttc	p.L718F	CTNND1_ENST00000526772.1_Missense_Mutation_p.L389F|CTNND1_ENST00000530748.1_Missense_Mutation_p.L664F|CTNND1_ENST00000533667.1_Missense_Mutation_p.L389F|CTNND1_ENST00000415361.2_Missense_Mutation_p.L617F|CTNND1_ENST00000426142.2_Missense_Mutation_p.L611F|CTNND1_ENST00000526357.1_Missense_Mutation_p.L658F|CTNND1_ENST00000361332.4_Missense_Mutation_p.L712F|CTNND1_ENST00000529526.1_Missense_Mutation_p.L658F|CTNND1_ENST00000529919.1_Missense_Mutation_p.L718F|CTNND1_ENST00000529986.1_Missense_Mutation_p.L611F|CTNND1_ENST00000534579.1_Missense_Mutation_p.L658F|CTNND1_ENST00000528232.1_Missense_Mutation_p.L617F|CTNND1_ENST00000532844.1_Missense_Mutation_p.L664F|CTNND1_ENST00000532649.1_Missense_Mutation_p.L658F|CTNND1_ENST00000525902.1_Missense_Mutation_p.L395F|CTNND1_ENST00000361391.6_Missense_Mutation_p.L712F|CTNND1_ENST00000528621.1_Missense_Mutation_p.L658F|CTNND1_ENST00000524630.1_Missense_Mutation_p.L712F|CTNND1_ENST00000399039.4_Missense_Mutation_p.L718F|CTNND1_ENST00000527467.1_Missense_Mutation_p.L395F|CTNND1_ENST00000361796.4_Missense_Mutation_p.L712F|CTNND1_ENST00000360682.6_Missense_Mutation_p.L718F|CTNND1_ENST00000530094.1_Missense_Mutation_p.L611F|CTNND1_ENST00000358694.6_Missense_Mutation_p.L712F|CTNND1_ENST00000532245.1_Missense_Mutation_p.L611F|CTNND1_ENST00000529873.1_Missense_Mutation_p.L658F|CTNND1_ENST00000428599.2_Missense_Mutation_p.L712F|CTNND1_ENST00000531014.1_Missense_Mutation_p.L389F|CTNND1_ENST00000526938.1_Missense_Mutation_p.L718F|CTNND1_ENST00000532787.1_Missense_Mutation_p.L611F|CTNND1_ENST00000532463.1_Missense_Mutation_p.L611F	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	718					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CATAGCTGACCTCCTGACTAA	0.458																																																	0								ENSG00000198561						104	107	106					11																	57575922		2050	4204	6254	CTNND1	SO:0001583	missense	0			-	HGNC	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2152C>T	11.37:g.57575922C>T	ENSP00000382004:p.Leu718Phe	Somatic	0	72	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	61	18.67	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L718F	ENST00000399050.4	37	c.2152	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753581	0.89753	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	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;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.068746	0.64402	D	0.000014	D	0.89157	0.6635	L	0.49126	1.545	0.54753	D	0.999986	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.998;0.998;0.998;0.999;0.998;0.998	P;P;D;P;P;P;D;P;D	0.74348	0.876;0.876;0.924;0.876;0.876;0.876;0.983;0.876;0.924	D	0.89897	0.4041	10	0.87932	D	0	-0.7327	18.8697	0.92308	0.0:1.0:0.0:0.0	.	718;712;718;611;658;658;712;718;718	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	F	712;718;718;718;712;658;611;718;712;712;611;611;712;611;389;658;658;664;712;395;617;389;389;658;395;664;658;611;617;611;658;718	ENSP00000436543:L712F;ENSP00000434808:L718F;ENSP00000381996:L718F;ENSP00000353902:L718F;ENSP00000354907:L712F;ENSP00000436323:L658F;ENSP00000409930:L611F;ENSP00000382004:L718F;ENSP00000354785:L712F;ENSP00000354823:L712F;ENSP00000432075:L611F;ENSP00000437156:L611F;ENSP00000351527:L712F;ENSP00000434949:L611F;ENSP00000437051:L389F;ENSP00000435379:L658F;ENSP00000432243:L658F;ENSP00000436744:L664F;ENSP00000413586:L712F;ENSP00000434900:L395F;ENSP00000435266:L617F;ENSP00000432623:L389F;ENSP00000433158:L389F;ENSP00000435494:L658F;ENSP00000434672:L395F;ENSP00000433276:L664F;ENSP00000433334:L658F;ENSP00000437327:L611F;ENSP00000403518:L617F;ENSP00000434017:L611F;ENSP00000435789:L658F;ENSP00000432041:L718F	ENSP00000351527:L712F	L	+	1	0	CTNND1	57332498	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.765000	0.68834	2.570000	0.86706	0.467000	0.42956	CTC	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.458	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	protein_coding	OTTHUMT00000393944.1	C	NM_001331	-		57575922	1	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57575922	C	T	57575922	3	4	139	1	0	0	0	0	1	0	0	0	4021	681	24	2	2198	2	CTNND1	11	57575922	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	39416453	57575922	77430594	32	10441											
PATL1	219988	genome.wustl.edu	37	chr11	59426412	59426412	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactggaattcagacttcctGgttggggctaacaaaaaagg	11	7	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr11:59426412G>C	ENST00000300146.9	-	4	437	c.353C>G	c.(352-354)cCa>cGa	p.P118R		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	118	Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CAGACTTCCTGGTTGGGGCTA	0.428																																																	0								ENSG00000166889						52	51	51					11																	59426412		692	1591	2283	PATL1	SO:0001583	missense	0			-	HGNC	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.353C>G	11.37:g.59426412G>C	ENSP00000300146:p.Pro118Arg	Somatic	0	24	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP							pfam_Topo_II-assoc_PAT1	p.P118R	ENST00000300146.9	37	c.353	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686496	0.47991	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.53423	0.62	5.26	5.26	0.73747	.	0.119701	0.56097	D	0.000021	T	0.47097	0.1427	L	0.36672	1.1	0.37780	D	0.926976	P;P	0.49307	0.904;0.922	B;P	0.48030	0.429;0.564	T	0.48958	-0.8988	10	0.36615	T	0.2	-2.6894	16.7323	0.85438	0.0:0.0:1.0:0.0	.	118;118	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	R	118	ENSP00000300146:P118R	ENSP00000300146:P118R	P	-	2	0	PATL1	59182988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.469000	0.83416	0.644000	0.83932	CCA	-	pfam_Topo_II-assoc_PAT1		0.428	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	protein_coding	OTTHUMT00000394559.1	G	NM_152716	-		59426412	-1	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	SNP	1.000	C	C	59426412	G	C	59426412	3	2	139	1	0	0	0	0	1	0	0	0	11477	1348	47	4	2023	4	PATL1	11	59426412	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	1850490	59426412	75580104	33	10442											
MMP10	4319	genome.wustl.edu	37	chr11	102647069	102647069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggcatcgaaggacaaagCaggatcacacttggctggca	13	9	1	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr11:102647069C>A	ENST00000279441.4	-	6	910	c.874G>T	c.(874-876)Gct>Tct	p.A292S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	292					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AAGGACAAAGCAGGATCACAC	0.463																																																	0								ENSG00000166670						97	93	94					11																	102647069		2203	4299	6502	MMP10	SO:0001583	missense	0			-	HGNC	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.874G>T	11.37:g.102647069C>A	ENSP00000279441:p.Ala292Ser	Somatic	0	24	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2R9X9|Q53HH9	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.A292S	ENST00000279441.4	37	c.874	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015866	0.07959	.	.	ENSG00000166670	ENST00000279441	T	0.12984	2.63	4.43	-0.442	0.12253	Hemopexin/matrixin (2);	1.438130	0.04420	N	0.367507	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.36672	-0.9738	10	0.17369	T	0.5	.	5.5454	0.17061	0.0:0.3001:0.1522:0.5477	.	292	P09238	MMP10_HUMAN	S	292	ENSP00000279441:A292S	ENSP00000279441:A292S	A	-	1	0	MMP10	102152279	0.000000	0.05858	0.003000	0.11579	0.065000	0.16274	-1.517000	0.02248	0.028000	0.15324	0.644000	0.83932	GCT	-	pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom		0.463	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	protein_coding	OTTHUMT00000398014.1	C		-		102647069	-1	no_errors	ENST00000279441	ensembl	human	known	74_37	missense	SNP	0.000	A	A	102647069	C	A	102647069	3	1	139	1	0	0	0	0	1	0	0	0	9651	710	25	3	576	3	MMP10	11	102647069	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	43220657	102647069	32359447	34	10443											
HTR3A	3359	genome.wustl.edu	37	chr11	113857756	113857756	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcccaagccaccaagactGatgactgctcaggtgagaaa	9	13	1	4			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr11:113857756G>T	ENST00000504030.2	+	8	1571	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	HTR3A_ENST00000375498.2_Missense_Mutation_p.D382Y|HTR3A_ENST00000535865.1_Missense_Mutation_p.D120Y|HTR3A_ENST00000506841.2_Missense_Mutation_p.D408Y|HTR3A_ENST00000299961.5_Missense_Mutation_p.D361Y|HTR3A_ENST00000355556.2_Missense_Mutation_p.D414Y			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	376					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CACCAAGACTGATGACTGCTC	0.582																																																	0								ENSG00000166736						26	29	28					11																	113857756		2199	4291	6490	HTR3A	SO:0001583	missense	0			-	HGNC	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1126G>T	11.37:g.113857756G>T	ENSP00000424189:p.Asp376Tyr	Somatic	0	53	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	42	46.84	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D414Y	ENST00000504030.2	37	c.1240		11	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828104	0.50845	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.5	3.63	0.41609	.	0.794413	0.12513	N	0.462301	T	0.27134	0.0665	L	0.55990	1.75	0.33718	D	0.616606	P;P;P	0.36753	0.568;0.549;0.568	B;B;P	0.46758	0.398;0.36;0.526	T	0.34800	-0.9814	10	0.39692	T	0.17	-2.7306	5.1134	0.14821	0.21:0.169:0.6211:0.0	.	361;414;382	B4DSY6;G5E986;Q7KZM7	.;.;.	Y	376;414;382;408;120;361	ENSP00000424189:D376Y;ENSP00000347754:D414Y;ENSP00000364648:D382Y;ENSP00000424776:D408Y;ENSP00000437776:D120Y;ENSP00000299961:D361Y	ENSP00000299961:D361Y	D	+	1	0	HTR3A	113362966	0.633000	0.27181	0.162000	0.22713	0.060000	0.15804	1.737000	0.38197	0.796000	0.33947	0.655000	0.94253	GAT	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A		0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	protein_coding	OTTHUMT00000360822.2	G	NM_000869	-		113857756	1	no_errors	ENST00000355556	ensembl	human	known	74_37	missense	SNP	0.582	T	T	113857756	G	T	113857756	3	4	139	1	0	0	0	0	1	0	0	0	7446	1290	45	3	1292	3	HTR3A	11	113857756	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	11210687	113857756	21148760	35	10444											
ENO2	2026	genome.wustl.edu	37	chr12	7026257	7026257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgctggagttggatgGgactgagaacaaatgtgagc	15	6	0	3			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr12:7026257G>C	ENST00000535366.1	+	4	922	c.296G>C	c.(295-297)gGg>gCg	p.G99A	ENO2_ENST00000229277.1_Missense_Mutation_p.G99A|ENO2_ENST00000541477.1_Missense_Mutation_p.G99A|ENO2_ENST00000544774.1_Intron|ENO2_ENST00000538763.1_Intron|ENO2_ENST00000545045.2_Missense_Mutation_p.G99A			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	99					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAGTTGGATGGGACTGAGAAC	0.607																																																	0								ENSG00000111674						100	99	100					12																	7026257		2203	4300	6503	ENO2	SO:0001583	missense	0			-	HGNC	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.296G>C	12.37:g.7026257G>C	ENSP00000437402:p.Gly99Ala	Somatic	0	40	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	11	66.67	B7Z2X9|Q96J33	Missense_Mutation	SNP							pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.G99A	ENST00000535366.1	37	c.296	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	g	21.3	4.131436	0.77549	.	.	ENSG00000111674	ENST00000537688;ENST00000540580;ENST00000541477;ENST00000229277;ENST00000539713;ENST00000535366;ENST00000545045;ENST00000544430	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.16	5.16	0.70880	Enolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	H	0.99261	4.49	0.80722	D	1	B	0.25272	0.122	B	0.40477	0.33	T	0.79850	-0.1629	10	0.72032	D	0.01	-21.1966	17.7777	0.88514	0.0:0.0:1.0:0.0	.	99	P09104	ENOG_HUMAN	A	99	ENSP00000445788:G99A;ENSP00000443117:G99A;ENSP00000438873:G99A;ENSP00000229277:G99A;ENSP00000441740:G99A;ENSP00000437402:G99A;ENSP00000438062:G99A	ENSP00000229277:G99A	G	+	2	0	ENO2	6896518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	2.567000	0.86603	0.556000	0.70494	GGG	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase		0.607	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	protein_coding	OTTHUMT00000401786.1	G		-		7026257	1	no_errors	ENST00000229277	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7026257	G	C	7026257	3	2	139	1	0	0	0	0	1	0	0	0	5124	1232	43	4	310	4	ENO2	12	7026257	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09		7026257	126825638	36	10445											
C1RL	51279	genome.wustl.edu	37	chr12	7252337	7252337	+	Silent	SNP	G	G	C													ctgtctttccaggtccctggGgttgcacaggtgagtgcccc					rs563886171		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr12:7252337G>C	ENST00000266542.4	-	5	728	c.636C>G	c.(634-636)acC>acG	p.T212T	C1RL_ENST00000504702.2_5'Flank|C1RL_ENST00000544702.1_Missense_Mutation_p.P228R|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	212					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						AGGTCCCTGGGGTTGCACAGG	0.552																																																	0								ENSG00000139178						66	48	54					12																	7252337		2200	4296	6496	C1RL	SO:0001819	synonymous_variant	0			-	HGNC	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.636C>G	12.37:g.7252337G>C		Somatic	0	119	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q53GX9	Missense_Mutation	SNP							pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	p.P228R	ENST00000266542.4	37	c.683	CCDS8573.1	12	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199836	0.22121	.	.	ENSG00000139178	ENST00000544702	T	0.37752	1.18	3.86	0.918	0.19386	.	.	.	.	.	T	0.25791	0.0628	.	.	.	0.09310	N	1	P	0.36837	0.571	B	0.40228	0.323	T	0.15925	-1.0420	7	.	.	.	.	4.6243	0.12470	0.1062:0.0:0.5079:0.3859	.	228	F5GWF3	.	R	228	ENSP00000441885:P228R	.	P	-	2	0	C1RL	7143479	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.170000	0.16663	0.191000	0.20236	0.462000	0.41574	CCC	-	NULL		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	protein_coding	OTTHUMT00000398367.1	G	NM_016546	-		7252337	-1	no_errors	ENST00000544702	ensembl	human	putative	74_37	missense	SNP	0.000	C	C	7252337	G	C	7252337	2	2	139	1	0	0	0	0	0	0	0	1	1975	1219	43	4		4	C1RL	12	7252337	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	226080	7252337	126599558	37	10446	171	2									
C1RL	51279	genome.wustl.edu	37	chr12	7252338	7252338	+	Missense_Mutation	SNP	G	G	A													tgtctttccaggtccctgggGttgcacaggtgagtgcccct							TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr12:7252338G>A	ENST00000266542.4	-	5	727	c.635C>T	c.(634-636)aCc>aTc	p.T212I	C1RL_ENST00000504702.2_5'Flank|C1RL_ENST00000544702.1_Missense_Mutation_p.P228S|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	212					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						GGTCCCTGGGGTTGCACAGGT	0.557																																																	0								ENSG00000139178						67	48	55					12																	7252338		2200	4298	6498	C1RL	SO:0001583	missense	0			-	HGNC	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.635C>T	12.37:g.7252338G>A	ENSP00000266542:p.Thr212Ile	Somatic	0	120	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	45	16.67	Q53GX9	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T212I	ENST00000266542.4	37	c.635	CCDS8573.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.724|4.724	0.134680|0.134680	0.09032|0.09032	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000544702|ENST00000266542;ENST00000396661;ENST00000543933	T|T;T	0.37058|0.48522	1.22|0.81;2.03	3.86|3.86	-0.0406|-0.0406	0.13871|0.13871	.|Complement control module (1);	.|2.191600	.|0.01610	.|N	.|0.022502	T|T	0.32102|0.32102	0.0818|0.0818	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|B	0.12013|0.25850	0.005|0.136	B|B	0.15870|0.18263	0.014|0.021	T|T	0.16070|0.16070	-1.0415|-1.0415	8|10	.|0.54805	.|T	.|0.06	.|.	2.5773|2.5773	0.04809|0.04809	0.1852:0.1443:0.5202:0.1502|0.1852:0.1443:0.5202:0.1502	.|.	228|212	F5GWF3|Q9NZP8	.|C1RL_HUMAN	S|I	228|212;212;170	ENSP00000441885:P228S|ENSP00000266542:T212I;ENSP00000437398:T170I	.|ENSP00000266542:T212I	P|T	-|-	1|2	0|0	C1RL|C1RL	7143480|7143480	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.010000|0.010000	0.13242|0.13242	-0.244000|-0.244000	0.09639|0.09639	-2.048000|-2.048000	0.00412|0.00412	CCC|ACC	-	superfamily_Sushi_SCR_CCP		0.557	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	protein_coding	OTTHUMT00000398367.1	G	NM_016546	-		7252338	-1	no_errors	ENST00000266542	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7252338	G	A	7252338	3	1	139	1	0	0	0	0	1	0	0	0	1975	1261	44	2	836	2	C1RL	12	7252338	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	1	7252338	126599557	38	10447	171	2									
WIF1	11197	genome.wustl.edu	37	chr12	65456299	65456299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctagtcctggagggcaaAtacattttccagggtagaaa	10	9	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr12:65456299A>G	ENST00000286574.4	-	7	1162	c.788T>C	c.(787-789)aTt>aCt	p.I263T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	263	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGGAGGGCAAATACATTTTCC	0.458			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0								ENSG00000156076						110	96	101					12																	65456299		2203	4300	6503	WIF1	SO:0001583	missense	0			-	HGNC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.788T>C	12.37:g.65456299A>G	ENSP00000286574:p.Ile263Thr	Somatic	0	49	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	Q6UXI1|Q8WVG4	Missense_Mutation	SNP							pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.I263T	ENST00000286574.4	37	c.788	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525450	0.27299	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	T;T	0.44482	3.87;0.92	5.28	5.28	0.74379	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.117350	0.56097	D	0.000030	T	0.31451	0.0797	N	0.04768	-0.165	0.58432	D	0.999998	P	0.41008	0.735	P	0.47075	0.536	T	0.16988	-1.0384	9	.	.	.	.	15.9322	0.79672	1.0:0.0:0.0:0.0	.	263	Q9Y5W5	WIF1_HUMAN	T	263;26	ENSP00000286574:I263T;ENSP00000439024:I26T	.	I	-	2	0	WIF1	63742566	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	5.931000	0.70113	2.307000	0.77673	0.528000	0.53228	ATT	-	smart_EG-like_dom		0.458	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	A		-		65456299	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	SNP	1.000	G	G	65456299	A	G	65456299	3	3	139	1	0	0	0	0	1	0	0	0	17373	101	4	5	367	5	WIF1	12	65456299	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	58203961	65456299	68395596	39	10448											
PARP4	143	genome.wustl.edu	37	chr13	25021323	25021323	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcatttggtcttctAtctatttataaaagaggaat	8	6	4	1	rs73172125		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr13:25021323A>G	ENST00000381989.3	-	26	3221	c.3116T>C	c.(3115-3117)aTa>aCa	p.I1039T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1039	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1039T(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGGTCTTCTATCTATTTATA	0.408																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)						ENSG00000102699						40	41	41					13																	25021323		2203	4300	6503	PARP4	SO:0001630	splice_region_variant	0			-	HGNC	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3115-1T>C	13.37:g.25021323A>G		Somatic	0	33	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.I1039T	ENST00000381989.3	37	c.3116	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297585	0.60086	.	.	ENSG00000102699	ENST00000381989	T	0.23147	1.92	4.69	4.69	0.59074	von Willebrand factor, type A (2);	0.215738	0.48767	D	0.000175	T	0.42177	0.1191	M	0.79475	2.455	0.40246	D	0.978015	P	0.45348	0.856	P	0.51055	0.657	T	0.48222	-0.9054	10	0.72032	D	0.01	-21.476	12.4624	0.55738	1.0:0.0:0.0:0.0	.	1039	Q9UKK3	PARP4_HUMAN	T	1039	ENSP00000371419:I1039T	ENSP00000371419:I1039T	I	-	2	0	PARP4	23919323	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.226000	0.58606	2.105000	0.64084	0.514000	0.50259	ATA	-	pfam_VWF_A,pfscan_VWF_A		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	protein_coding	OTTHUMT00000044189.1	A	NM_006437	rs73172125	Missense_Mutation	25021323	-1	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	SNP	1.000	G	G	25021323	A	G	25021323	5	3	139	1	0	0	0	0	0	0	1	0	11465	463	16	5	2094	5	PARP4	13	25021323	Splice_Site	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09		25021323	90148555	40	10449											
NBEA	26960	genome.wustl.edu	37	chr13	36241588	36241588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaactgcttattcccaCgcttgatatctgtctccagc	6	13	2	2	rs200699050		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr13:36241588C>T	ENST00000400445.3	+	56	9013	c.8479C>T	c.(8479-8481)Cgc>Tgc	p.R2827C	NBEA_ENST00000540320.1_Missense_Mutation_p.R2827C|NBEA_ENST00000310336.4_Missense_Mutation_p.R2827C|NBEA_ENST00000379939.2_Missense_Mutation_p.R2824C|NBEA_ENST00000537702.1_Missense_Mutation_p.R620C|NBEA_ENST00000379922.3_Missense_Mutation_p.R405C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2827					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTATTCCCACGCTTGATATC	0.473																																																	0								ENSG00000172915	C	CYS/ARG,CYS/ARG	2,3928		0,2,1963	133	135	134		1858,8479	4.9	0.9	13		134	1,8287		0,1,4143	yes	missense,missense	NBEA	NM_001204197.1,NM_015678.4	180,180	0,3,6106	TT,TC,CC		0.0121,0.0509,0.0246	probably-damaging,probably-damaging	620/740,2827/2947	36241588	3,12215	1965	4144	6109	NBEA	SO:0001583	missense	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8479C>T	13.37:g.36241588C>T	ENSP00000383295:p.Arg2827Cys	Somatic	0	76	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	11	63.33	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R2827C	ENST00000400445.3	37	c.8479	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297237	0.60086	5.09E-4	1.21E-4	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.73	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.992	D;P;P	0.64506	0.926;0.886;0.731	T	0.35699	-0.9778	10	0.56958	D	0.05	.	13.8647	0.63581	0.2737:0.7263:0.0:0.0	.	2827;405;2824	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	C	2827;2827;2824;2827;1456;405;620;405	ENSP00000440951:R2827C;ENSP00000383295:R2827C;ENSP00000369271:R2824C;ENSP00000308534:R2827C;ENSP00000440233:R620C;ENSP00000369254:R405C	ENSP00000308534:R2827C	R	+	1	0	NBEA	35139588	0.997000	0.39634	0.929000	0.37066	0.972000	0.66771	3.643000	0.54374	2.700000	0.92200	0.655000	0.94253	CGC	-	superfamily_WD40_repeat_dom		0.473	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		C	NM_015678	rs200699050		36241588	1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	SNP	0.978	T	T	36241588	C	T	36241588	3	4	139	1	0	0	0	0	1	0	0	0	10189	536	19	1	8701	1	NBEA	13	36241588	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	11220265	36241588	78928290	41	10450											
SPG11	80208	genome.wustl.edu	37	chr15	44876713	44876713	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caattcttgcttgttttagtGaccactgttcaatgtgtttt	7	7	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr15:44876713G>T	ENST00000261866.7	-	30	5181	c.5165C>A	c.(5164-5166)tCa>tAa	p.S1722*	SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000535302.2_Nonsense_Mutation_p.S1722*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.S1722*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.S1722*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1722					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)		TTGTTTTAGTGACCACTGTTC	0.328																																																	0								ENSG00000104133						42	46	45					15																	44876713		2198	4298	6496	SPG11	SO:0001587	stop_gained	0			-	HGNC		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.5165C>A	15.37:g.44876713G>T	ENSP00000261866:p.Ser1722*	Somatic	0	23	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP							NULL	p.S1722*	ENST00000261866.7	37	c.5165	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	44	10.623016	0.99439	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.74	3.78	0.43462	.	0.436821	0.23868	N	0.043766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1476	0.59472	0.0:0.1003:0.7162:0.1835	.	.	.	.	X	1722	.	ENSP00000261866:S1722X	S	-	2	0	SPG11	42664005	0.989000	0.36119	1.000000	0.80357	0.902000	0.53008	1.170000	0.31883	2.716000	0.92895	0.557000	0.71058	TCA	-	NULL		0.328	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	G		-		44876713	-1	no_errors	ENST00000261866	ensembl	human	known	74_37	nonsense	SNP	0.871	T	T	44876713	G	T	44876713	4	4	139	1	0	0	0	0	0	1	0	0	15048	1294	45	3	2210	3	SPG11	15	44876713	Nonsense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09		44876713	57654679	42	10451											
LACTB	114294	genome.wustl.edu	37	chr15	63419128	63419128	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttatgcgaattgctagcatCagcaaaagtctcaccatggt	9	9	2	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr15:63419128C>T	ENST00000261893.4	+	3	567	c.495C>T	c.(493-495)atC>atT	p.I165I	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Silent_p.I165I	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	165						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTGCTAGCATCAGCAAAAGTC	0.418																																					Melanoma(85;443 1381 6215 27308 35583)												0								ENSG00000103642						127	111	116					15																	63419128		2203	4300	6503	LACTB	SO:0001819	synonymous_variant	0			-	HGNC	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.495C>T	15.37:g.63419128C>T		Somatic	0	53	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	P83096	Silent	SNP							pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.I165	ENST00000261893.4	37	c.495	CCDS10182.1	15																																																																																			-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like		0.418	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	protein_coding	OTTHUMT00000256224.1	C	NM_032857	-		63419128	1	no_errors	ENST00000261893	ensembl	human	known	74_37	silent	SNP	1.000	T	T	63419128	C	T	63419128	2	4	139	1	0	0	0	0	0	0	0	1	8599	816	29	2		2	LACTB	15	63419128	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	18542415	63419128	39112264	43	10452											
IL32	9235	genome.wustl.edu	37	chr16	3119356	3119356	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaatcctcaaaatgAagatactgacaccacctttg	5	13	1	3			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr16:3119356A>G	ENST00000534507.1	+	6	916	c.705A>G	c.(703-705)tgA>tgG	p.*235W	IL32_ENST00000548476.1_Nonstop_Mutation_p.*235W|IL32_ENST00000530890.1_Nonstop_Mutation_p.*169W|IL32_ENST00000548246.1_Nonstop_Mutation_p.*149W|IL32_ENST00000444393.3_Nonstop_Mutation_p.*189W|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000528163.2_Nonstop_Mutation_p.*189W|IL32_ENST00000525643.2_Nonstop_Mutation_p.*189W|IL32_ENST00000529699.1_Nonstop_Mutation_p.*169W|IL32_ENST00000008180.9_Nonstop_Mutation_p.*169W|IL32_ENST00000548652.1_Nonstop_Mutation_p.*180W|IL32_ENST00000551122.1_Nonstop_Mutation_p.*132W|IL32_ENST00000552664.1_Nonstop_Mutation_p.*189W|IL32_ENST00000396887.3_Nonstop_Mutation_p.*132W|IL32_ENST00000549213.1_Nonstop_Mutation_p.*132W|IL32_ENST00000552936.1_Nonstop_Mutation_p.*213W|IL32_ENST00000526464.2_Nonstop_Mutation_p.*189W|IL32_ENST00000529550.1_Nonstop_Mutation_p.*189W|IL32_ENST00000551513.1_Nonstop_Mutation_p.*226W|IL32_ENST00000396890.2_Nonstop_Mutation_p.*235W|IL32_ENST00000531965.1_Nonstop_Mutation_p.*179W|IL32_ENST00000382213.3_Nonstop_Mutation_p.*180W|IL32_ENST00000552356.1_Nonstop_Mutation_p.*169W|IL32_ENST00000440815.3_Nonstop_Mutation_p.*189W|IL32_ENST00000533097.2_Nonstop_Mutation_p.*189W|IL32_ENST00000325568.5_Nonstop_Mutation_p.*189W|IL32_ENST00000530538.2_Nonstop_Mutation_p.*189W			P24001	IL32_HUMAN	interleukin 32	0					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCTCAAAATGAAGATACTGAC	0.622																																																	0								ENSG00000008517						73	89	83					16																	3119356		2197	4300	6497	IL32	SO:0001578	stop_lost	0			-	HGNC	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.705A>G	16.37:g.3119356A>G	ENSP00000431775:p.*235Trpext*3	Somatic	0	48	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Nonstop_Mutation	SNP							NULL	p.*235W	ENST00000534507.1	37	c.705		16	.	.	.	.	.	.	.	.	.	.	A	4.382	0.070455	0.08436	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	.	.	.	1.0	-0.305	0.12784	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7451	0.08545	0.5946:0.4054:0.0:0.0	.	.	.	.	W	189;235;179;132;169;189;189;189;132;189;189;169;189;189;169;235;180;189;132;213;235;189;169;226;180;149	.	.	X	+	3	0	IL32	3059357	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.142000	0.16096	-0.080000	0.12685	0.444000	0.29173	TGA	-	NULL		0.622	IL32-002	KNOWN	basic	protein_coding	IL32	protein_coding	OTTHUMT00000394812.2	A	NM_004221	-		3119356	1	no_errors	ENST00000396890	ensembl	human	known	74_37	nonstop	SNP	0.001	G	G	3119356	A	G	3119356	4	3	139	1	0	0	0	0	0	0	0	0	7694	259	9	5	589	5	IL32	16	3119356	Nonstop_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09		3119356	87235397	44	10453											
ABCC12	94160	genome.wustl.edu	37	chr16	48122490	48122490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaatcccgactgtctgCccactttgtatgttcaagtt	6	13	2	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr16:48122490C>T	ENST00000311303.3	-	24	3786	c.3441G>A	c.(3439-3441)ggG>ggA	p.G1147G	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1147	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGACTGTCTGCCCACTTTGTA	0.493																																																	0								ENSG00000140798						120	108	112					16																	48122490		2201	4300	6501	ABCC12	SO:0001819	synonymous_variant	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3441G>A	16.37:g.48122490C>T		Somatic	0	68	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G1147	ENST00000311303.3	37	c.3441	CCDS10730.1	16																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.493	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48122490	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48122490	C	T	48122490	2	4	139	1	0	0	0	0	0	0	0	1	52	726	26	2		2	ABCC12	16	48122490	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	45003134	48122490	42232263	45	10454											
SALL1	6299	genome.wustl.edu	37	chr16	51175551	51175551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggttctcgatgatgacGttgctgttgattacggagaa	14	5	1	4			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr16:51175551G>A	ENST00000251020.4	-	2	615	c.582C>T	c.(580-582)aaC>aaT	p.N194N	SALL1_ENST00000440970.1_Silent_p.N97N|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	194					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)			CGATGATGACGTTGCTGTTGA	0.627																																					GBM(103;1352 1446 1855 4775 8890)												0								ENSG00000103449						95	89	91					16																	51175551		2198	4300	6498	SALL1	SO:0001819	synonymous_variant	0			-	HGNC	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.582C>T	16.37:g.51175551G>A		Somatic	0	152	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	46	36.99	Q99881|Q9NSC3|Q9P1R0	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N194	ENST00000251020.4	37	c.582	CCDS10747.1	16																																																																																			-	NULL		0.627	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	G	NM_002968	-		51175551	-1	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	SNP	1.000	A	A	51175551	G	A	51175551	2	1	139	1	0	0	0	0	0	0	0	1	13818	1136	40	1		1	SALL1	16	51175551	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	3053061	51175551	39179202	46	10455											
DHX38	9785	genome.wustl.edu	37	chr16	72139995	72139995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagggcgagccggcaggaCgggcccaggtcagtgtttca	17	11	3	0	rs372311072		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr16:72139995C>T	ENST00000268482.3	+	19	3088	c.2579C>T	c.(2578-2580)aCg>aTg	p.T860M	DHX38_ENST00000536867.1_Missense_Mutation_p.T172M	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	860	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCGGCAGGACGGGCCCAGGT	0.652																																					Melanoma(97;711 1442 7855 13832 28836)												0								ENSG00000140829	C	MET/THR	0,4396		0,0,2198	55	57	56		2579	5.9	1	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX38	NM_014003.3	81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	860/1228	72139995	1,12995	2198	4300	6498	DHX38	SO:0001583	missense	0			-	HGNC	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2579C>T	16.37:g.72139995C>T	ENSP00000268482:p.Thr860Met	Somatic	0	81	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	9	78.57	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T860M	ENST00000268482.3	37	c.2579	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.254576	0.95336	0.0	1.16E-4	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02863	4.13;4.13	5.88	5.88	0.94601	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.08868	-1.0701	10	0.87932	D	0	.	19.8526	0.96746	0.0:1.0:0.0:0.0	.	172;860	B4DVG8;Q92620	.;PRP16_HUMAN	M	860;172	ENSP00000268482:T860M;ENSP00000437898:T172M	ENSP00000268482:T860M	T	+	2	0	DHX38	70697496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.736000	0.84948	2.782000	0.95742	0.655000	0.94253	ACG	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.652	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	protein_coding	OTTHUMT00000269004.3	C	NM_014003	-		72139995	1	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72139995	C	T	72139995	3	4	139	1	0	0	0	0	1	0	0	0	4513	536	19	1	2649	1	DHX38	16	72139995	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	20964444	72139995	18214758	47	10456											
FANCA	2175	genome.wustl.edu	37	chr16	89837022	89837022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggttctgacagaaagaCgtcagcaggaggtccacagc	12	10	3	3			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr16:89837022C>T	ENST00000389301.3	-	24	2202	c.2172G>A	c.(2170-2172)acG>acA	p.T724T	FANCA_ENST00000568369.1_Silent_p.T724T|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	724					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GACAGAAAGACGTCAGCAGGA	0.662			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0								ENSG00000187741						62	46	51					16																	89837022		2198	4299	6497	FANCA	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2172G>A	16.37:g.89837022C>T		Somatic	0	82	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	6	73.91	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP							pfam_Fanconia,prints_Fanconia	p.T724	ENST00000389301.3	37	c.2172	CCDS32515.1	16																																																																																			-	NULL		0.662	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	protein_coding	OTTHUMT00000421927.1	C		-		89837022	-1	no_errors	ENST00000389301	ensembl	human	known	74_37	silent	SNP	0.287	T	T	89837022	C	T	89837022	2	4	139	1	0	0	0	0	0	0	0	1	5664	523	19	1		1	FANCA	16	89837022	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	17697027	89837022	517731	48	10457											
ATP2A3	489	genome.wustl.edu	37	chr17	3839703	3839703	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgtcaccaggttcacCcagagcagctgcacagggat	11	14	3	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:3839703C>T	ENST00000352011.3	-	16	2436	c.2382G>A	c.(2380-2382)tgG>tgA	p.W794*	ATP2A3_ENST00000397035.3_Nonsense_Mutation_p.W794*|ATP2A3_ENST00000309890.7_Nonsense_Mutation_p.W794*|ATP2A3_ENST00000359983.3_Nonsense_Mutation_p.W794*|ATP2A3_ENST00000397043.3_Nonsense_Mutation_p.W794*|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Nonsense_Mutation_p.W794*			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	794					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGTTCACCCAGAGCAGCT	0.637																																					GBM(32;29 774 15719 37967)												0								ENSG00000074370						81	81	81					17																	3839703		2203	4300	6503	ATP2A3	SO:0001587	stop_gained	0			-	HGNC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2382G>A	17.37:g.3839703C>T	ENSP00000301387:p.Trp794*	Somatic	0	139	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	227	12.98	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Nonsense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.W794*	ENST00000352011.3	37	c.2382	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.165998	0.99087	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	.	.	.	4.16	4.16	0.48862	.	0.059204	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.725	0.85419	0.0:1.0:0.0:0.0	.	.	.	.	X	794	.	ENSP00000312577:W794X	W	-	3	0	ATP2A3	3786452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.607000	0.88179	0.561000	0.74099	TGG	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA		0.637	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	C	NM_174953	-		3839703	-1	no_errors	ENST00000359983	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	3839703	C	T	3839703	4	4	139	1	0	0	0	0	0	1	0	0	1138	624	22	2	852	2	ATP2A3	17	3839703	Nonsense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		3839703	77355507	49	10458											
NLRP1	22861	genome.wustl.edu	37	chr17	5418160	5418160	+	Frame_Shift_Del	DEL	G	G	-													atgggtctccttcagggcttGgtagagtccatctttgcact							TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:5418160delG	ENST00000572272.1	-	17	4335	c.4336delC	c.(4336-4338)caafs	p.Q1446fs	NLRP1_ENST00000345221.3_Frame_Shift_Del_p.Q1402fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.Q1416fs|NLRP1_ENST00000262467.5_Intron|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.Q1402fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.Q1372fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1446	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCAGGGCTTGGTAGAGTCCA	0.562																																																	0								ENSG00000091592						91	95	93					17																	5418160		2022	4180	6202	NLRP1	SO:0001589	frameshift_variant	0				HGNC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4336delC	17.37:g.5418160delG	ENSP00000460475:p.Gln1446fs	Somatic	0	127	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	152	15.08	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL							pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Q1446fs	ENST00000572272.1	37	c.4336	CCDS42246.1	17																																																																																			-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD		0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	protein_coding	OTTHUMT00000439517.1	G	NM_033004			5418160	-1	no_errors	ENST00000572272	ensembl	human	known	74_37	frame_shift_del	DEL	0.924	-	-	5418160	G	-	5418160	7	5	139	1	0	1	0	1	0	0	0	0	10473	1357	47	0	152	0	NLRP1	17	5418160	Frame_Shift_Del	DEL	G	TCGA-FX-A3TO-01A-11D-A228-09	1578457	5418160	75777050	50	10459											
SLC2A4	6517	genome.wustl.edu	37	chr17	7189830	7189830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttaagagtacctgaaaCtcgaggccggacgtttgacc	10	11	1	3			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:7189830C>T	ENST00000317370.8	+	11	1680	c.1412C>T	c.(1411-1413)aCt>aTt	p.T471I	RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	471					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTACCTGAAACTCGAGGCCGG	0.537																																																	0								ENSG00000181856						285	285	285					17																	7189830		2203	4300	6503	SLC2A4	SO:0001583	missense	0			-	HGNC	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1412C>T	17.37:g.7189830C>T	ENSP00000320935:p.Thr471Ile	Somatic	0	70	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	121	12.32	Q05BQ3|Q14CX2	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.T471I	ENST00000317370.8	37	c.1412	CCDS11097.1	17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805367	0.90623	.	.	ENSG00000181856	ENST00000317370	T	0.80994	-1.44	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95437	0.8522	10	0.87932	D	0	.	16.4157	0.83732	0.0:1.0:0.0:0.0	.	471	P14672	GTR4_HUMAN	I	471	ENSP00000320935:T471I	ENSP00000320935:T471I	T	+	2	0	SLC2A4	7130554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.228000	0.78079	2.826000	0.97356	0.655000	0.94253	ACT	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.537	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4	protein_coding	OTTHUMT00000220031.3	C		-		7189830	1	no_errors	ENST00000317370	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7189830	C	T	7189830	3	4	139	1	0	0	0	0	1	0	0	0	14554	565	20	2	1454	2	SLC2A4	17	7189830	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	1771670	7189830	74005380	51	10460											
TP53	7157	genome.wustl.edu	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagggcaccaccacactaTgtcgaaaagtgtttctgtca	8	11	2	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R	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	214	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 -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(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)	CACCACACTATGTCGAAAAGT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(1)						ENSG00000141510						127	114	119					17																	7578208		2203	4300	6503	TP53	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;	-	HGNC	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.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	Somatic	0	51	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	7	84.09	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H214R	ENST00000269305.4	37	c.641	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578208	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.999	C	C	7578208	T	C	7578208	3	2	139	1	0	0	0	0	1	0	0	0	16388	1464	51	5	653	5	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09	388378	7578208	73617002	52	10461											
CCDC144NL	339184	genome.wustl.edu	37	chr17	20796708	20796708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actatcagaagtcttacctgGattgttattttgaggaagac	9	6	2	3	rs143403787		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:20796708G>A	ENST00000327925.5	-	2	531	c.412C>T	c.(412-414)Cca>Tca	p.P138S	RP11-344E13.3_ENST00000582324.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	138										large_intestine(3)|lung(3)|skin(1)	7						GTCTTACCTGGATTGTTATTT	0.313																																																	0								ENSG00000205212						36	37	37					17																	20796708		2192	4272	6464	CCDC144NL	SO:0001583	missense	0			-	HGNC		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.412C>T	17.37:g.20796708G>A	ENSP00000328054:p.Pro138Ser	Somatic	0	89	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	126	23.64		Missense_Mutation	SNP							NULL	p.P138S	ENST00000327925.5	37	c.412	CCDS32591.1	17	.	.	.	.	.	.	.	.	.	.	g	11.56	1.675626	0.29783	.	.	ENSG00000205212	ENST00000327925	T	0.39056	1.1	0.9	-0.356	0.12583	.	.	.	.	.	T	0.38026	0.1025	N	0.14661	0.345	0.09310	N	1	D	0.60575	0.988	D	0.65140	0.932	T	0.20907	-1.0261	9	0.59425	D	0.04	.	4.5829	0.12267	0.0:0.4145:0.5855:0.0	.	138	Q6NUI1	C144L_HUMAN	S	138	ENSP00000328054:P138S	ENSP00000328054:P138S	P	-	1	0	CCDC144NL	20737300	0.669000	0.27502	0.200000	0.23457	0.259000	0.26198	0.731000	0.26058	-0.078000	0.12730	0.281000	0.19383	CCA	-	NULL		0.313	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	protein_coding	OTTHUMT00000255361.2	G	NM_001004306	-		20796708	-1	no_errors	ENST00000327925	ensembl	human	known	74_37	missense	SNP	0.299	A	A	20796708	G	A	20796708	3	1	139	1	0	0	0	0	1	0	0	0	2781	1174	41	2	265	2	CCDC144NL	17	20796708	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	13218500	20796708	60398502	53	10462											
CCDC103	388389	genome.wustl.edu	37	chr17	42978925	42978925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatctgaagccactggagCggaaggataagatgggagga	15	7	1	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:42978925C>T	ENST00000417826.2	+	3	276	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410027.1_Missense_Mutation_p.R61W|EFTUD2_ENST00000402521.3_5'Flank|FAM187A_ENST00000331733.4_5'UTR|AC015936.3_ENST00000441312.1_RNA|EFTUD2_ENST00000592576.1_5'Flank|EFTUD2_ENST00000426333.2_5'Flank|CCDC103_ENST00000410006.2_Missense_Mutation_p.R61W|EFTUD2_ENST00000591382.1_5'Flank	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	61					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				GCCACTGGAGCGGAAGGATAA	0.517																																																	0								ENSG00000167131						150	127	135					17																	42978925		2203	4300	6503	CCDC103	SO:0001583	missense	0			-	HGNC	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.181C>T	17.37:g.42978925C>T	ENSP00000391692:p.Arg61Trp	Somatic	0	64	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	A8K145|B8ZZU0	Missense_Mutation	SNP							NULL	p.R61W	ENST00000417826.2	37	c.181	CCDS11490.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164605	0.78339	.	.	ENSG00000167131	ENST00000357776;ENST00000410027;ENST00000417826;ENST00000410006	T;T;T	0.79033	-1.23;-1.23;-1.23	5.63	3.41	0.39046	.	0.652152	0.12226	U	0.487882	T	0.76018	0.3929	L	0.58810	1.83	0.35278	D	0.781083	D	0.67145	0.996	B	0.43623	0.425	T	0.82244	-0.0553	10	0.87932	D	0	-2.8181	13.5562	0.61761	0.4575:0.5425:0.0:0.0	.	61	Q8IW40	CC103_HUMAN	W	61	ENSP00000350420:R61W;ENSP00000391692:R61W;ENSP00000387252:R61W	ENSP00000350420:R61W	R	+	1	2	CCDC103	40334451	0.606000	0.26949	0.798000	0.32154	0.977000	0.68977	0.665000	0.25083	1.224000	0.43551	0.555000	0.69702	CGG	-	NULL		0.517	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC103	protein_coding	OTTHUMT00000334578.1	C	NM_213607	-		42978925	1	no_errors	ENST00000410006	ensembl	human	known	74_37	missense	SNP	0.742	T	T	42978925	C	T	42978925	3	4	139	1	0	0	0	0	1	0	0	0	2740	759	27	1	187	1	CCDC103	17	42978925	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	22182217	42978925	38216285	54	10463											
TEX2	55852	genome.wustl.edu	37	chr17	62290410	62290410	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcaggcctaaatccttcaGactgctcccctgggaacttt	7	14	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:62290410G>C	ENST00000583097.1	-	2	1340	c.1168C>G	c.(1168-1170)Ctg>Gtg	p.L390V	TEX2_ENST00000258991.3_Missense_Mutation_p.L390V|TEX2_ENST00000584379.1_Missense_Mutation_p.L390V			Q8IWB9	TEX2_HUMAN	testis expressed 2	390					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAATCCTTCAGACTGCTCCCC	0.463																																																	0								ENSG00000136478						75	77	77					17																	62290410		2203	4300	6503	TEX2	SO:0001583	missense	0			-	HGNC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1168C>G	17.37:g.62290410G>C	ENSP00000462665:p.Leu390Val	Somatic	0	86	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	101	13.68	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP							pfam_DUF2404	p.L390V	ENST00000583097.1	37	c.1168		17	.	.	.	.	.	.	.	.	.	.	G	4.478	0.088595	0.08583	.	.	ENSG00000136478	ENST00000258991	T	0.43688	0.94	6.17	-0.0612	0.13786	.	0.638405	0.15718	N	0.248067	T	0.20455	0.0492	N	0.25647	0.755	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.10847	-1.0612	10	0.17369	T	0.5	-1.025	1.3518	0.02174	0.1607:0.2117:0.3787:0.2489	.	390;390	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	V	390	ENSP00000258991:L390V	ENSP00000258991:L390V	L	-	1	2	TEX2	59644142	0.607000	0.26958	0.104000	0.21259	0.878000	0.50629	0.730000	0.26043	0.443000	0.26582	0.655000	0.94253	CTG	-	NULL		0.463	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	protein_coding	OTTHUMT00000443745.1	G	NM_018469	-		62290410	-1	no_errors	ENST00000258991	ensembl	human	known	74_37	missense	SNP	0.080	C	C	62290410	G	C	62290410	3	2	139	1	0	0	0	0	1	0	0	0	15788	933	33	4	2280	4	TEX2	17	62290410	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	19311485	62290410	18904800	55	10464											
ABCA6	23460	genome.wustl.edu	37	chr17	67109805	67109805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtcagctttcttttcTgtccttcacttaaatgttta	4	9	4	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr17:67109805T>G	ENST00000284425.2	-	14	2030	c.1856A>C	c.(1855-1857)cAg>cCg	p.Q619P		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	619	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTTCTTTTCTGTCCTTCACT	0.358																																																	0								ENSG00000154262						160	144	150					17																	67109805		2203	4300	6503	ABCA6	SO:0001583	missense	0			-	HGNC	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1856A>C	17.37:g.67109805T>G	ENSP00000284425:p.Gln619Pro	Somatic	0	70	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.88	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q619P	ENST00000284425.2	37	c.1856	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911245	0.72983	.	.	ENSG00000154262	ENST00000284425	D	0.95205	-3.64	4.96	4.96	0.65561	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.49305	D	0.000148	D	0.97920	0.9316	H	0.95504	3.68	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.99029	1.0820	10	0.87932	D	0	.	14.2404	0.65954	0.0:0.0:0.0:1.0	.	619	Q8N139	ABCA6_HUMAN	P	619	ENSP00000284425:Q619P	ENSP00000284425:Q619P	Q	-	2	0	ABCA6	64621400	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.625000	0.74248	2.209000	0.71365	0.477000	0.44152	CAG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	protein_coding	OTTHUMT00000450463.1	T	NM_080284	-		67109805	-1	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	SNP	1.000	G	G	67109805	T	G	67109805	3	3	139	1	0	0	0	0	1	0	0	0	36	1580	55	5	3101	5	ABCA6	17	67109805	Missense_Mutation	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09	4819395	67109805	14085405	56	10465											
CETN1	1068	genome.wustl.edu	37	chr18	580481	580481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcacctaagcccgagCtcactgaggatcagaagcaa	12	11	2	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr18:580481C>A	ENST00000327228.3	+	1	115	c.73C>A	c.(73-75)Ctc>Atc	p.L25I		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	25					cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TAAGCCCGAGCTCACTGAGGA	0.602																																																	0								ENSG00000177143						48	36	40					18																	580481		2203	4300	6503	CETN1	SO:0001583	missense	0			-	HGNC	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.73C>A	18.37:g.580481C>A	ENSP00000319052:p.Leu25Ile	Somatic	0	22	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	6	62.50	B2R536	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.L25I	ENST00000327228.3	37	c.73	CCDS11820.1	18	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970180	0.53614	.	.	ENSG00000177143	ENST00000327228	T	0.44083	0.93	5.1	5.1	0.69264	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.29850	0.0746	N	0.08118	0	0.80722	D	1	B	0.32051	0.354	B	0.36989	0.238	T	0.24440	-1.0160	10	0.54805	T	0.06	.	16.4123	0.83722	0.0:1.0:0.0:0.0	.	25	Q12798	CETN1_HUMAN	I	25	ENSP00000319052:L25I	ENSP00000319052:L25I	L	+	1	0	CETN1	570481	1.000000	0.71417	0.976000	0.42696	0.137000	0.21094	5.814000	0.69208	2.825000	0.97269	0.655000	0.94253	CTC	-	NULL		0.602	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN1	protein_coding	OTTHUMT00000254314.2	C	NM_004066	-		580481	1	no_errors	ENST00000327228	ensembl	human	known	74_37	missense	SNP	1.000	A	A	580481	C	A	580481	3	1	139	1	0	0	0	0	1	0	0	0	3276	797	28	3	75	3	CETN1	18	580481	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09		580481	77496767	57	10466											
FZR1	51343	genome.wustl.edu	37	chr19	3534432	3534432	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggcaatgtcccctgAtggggaggccatcgtcactg	12	13	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr19:3534432A>T	ENST00000395095.3	+	12	1361	c.1361A>T	c.(1360-1362)gAt>gTt	p.D454V	FZR1_ENST00000441788.2_Missense_Mutation_p.D454V|FZR1_ENST00000313639.8_Missense_Mutation_p.D365V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	454					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCCCTGATGGGGAGGCC	0.592																																																	0								ENSG00000105325						92	73	79					19																	3534432		2197	4297	6494	FZR1	SO:0001583	missense	0			-	HGNC	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1361A>T	19.37:g.3534432A>T	ENSP00000378529:p.Asp454Val	Somatic	0	90	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	46	44.58	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D454V	ENST00000395095.3	37	c.1361	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661431	0.88154	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.64438	1.1;1.1;-0.1	5.12	5.12	0.69794	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	0.82632	0.5079	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.86729	0.1947	10	0.87932	D	0	-29.8112	13.7565	0.62940	1.0:0.0:0.0:0.0	.	454;365;454	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	V	454;454;365	ENSP00000410369:D454V;ENSP00000378529:D454V;ENSP00000321800:D365V	ENSP00000321800:D365V	D	+	2	0	FZR1	3485432	1.000000	0.71417	0.983000	0.44433	0.960000	0.62799	8.983000	0.93477	1.929000	0.55896	0.459000	0.35465	GAT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.592	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	protein_coding	OTTHUMT00000452869.2	A	NM_016263	-		3534432	1	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	SNP	0.998	T	T	3534432	A	T	3534432	3	4	139	1	0	0	0	0	1	0	0	0	6140	333	12	5	1407	5	FZR1	19	3534432	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09		3534432	55594551	58	10467											
ZNF177	7730	genome.wustl.edu	37	chr19	9491685	9491685	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagtacgtgagcaaataccTactggagagaaaggtgatga	12	6	1	4			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr19:9491685T>A	ENST00000589262.1	+	6	744	c.678T>A	c.(676-678)ccT>ccA	p.P226P	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000434737.2_Silent_p.P226P|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000541595.2_Intron	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	226					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AGCAAATACCTACTGGAGAGA	0.443																																																	0								ENSG00000188629																																			ZNF177	SO:0001819	synonymous_variant	0			-	HGNC	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.678T>A	19.37:g.9491685T>A		Somatic	0	55	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	37	43.94	B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P226	ENST00000589262.1	37	c.678	CCDS54214.1	19																																																																																			-	NULL		0.443	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	protein_coding	OTTHUMT00000449028.1	T	NM_003451	-		9491685	1	no_errors	ENST00000434737	ensembl	human	known	74_37	silent	SNP	0.410	A	A	9491685	T	A	9491685	2	1	139	1	0	0	0	0	0	0	0	1	17753	1509	53	5		5	ZNF177	19	9491685	Silent	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09	5957253	9491685	49637298	59	10468											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	139	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-FX-A3TO-01A-11D-A228-09	31682208	41173893	17955090	60	10469											
FUT1	2523	genome.wustl.edu	37	chr19	49254184	49254184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaataccggggccagggCggcatgcatggcaggcagga	19	10	0	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr19:49254184C>T	ENST00000310160.3	-	4	1329	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	119					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGCCAGGGCGGCATGCATG	0.657																																																	0								ENSG00000174951						43	51	49					19																	49254184		2202	4299	6501	FUT1	SO:0001583	missense	0			-	HGNC		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.355G>A	19.37:g.49254184C>T	ENSP00000312021:p.Ala119Thr	Somatic	0	104	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	59	34.74	O14505|O14506|O14507	Missense_Mutation	SNP							pfam_Glyco_trans_11	p.A119T	ENST00000310160.3	37	c.355	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.747821	0.00669	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96200	-3.94	4.61	-9.21	0.00678	.	0.995923	0.08139	N	0.991910	T	0.81346	0.4803	N	0.02697	-0.525	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.74172	-0.3751	10	0.02654	T	1	-0.6454	9.9522	0.41645	0.0908:0.5436:0.0:0.3656	.	119	P19526	FUT1_HUMAN	T	119	ENSP00000312021:A119T	ENSP00000312021:A119T	A	-	1	0	FUT1	53945996	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.666000	0.00399	-1.966000	0.01009	-0.982000	0.02568	GCC	-	pfam_Glyco_trans_11		0.657	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	protein_coding	OTTHUMT00000466194.1	C	NM_000148	-		49254184	-1	no_errors	ENST00000310160	ensembl	human	known	74_37	missense	SNP	0.000	T	T	49254184	C	T	49254184	3	4	139	1	0	0	0	0	1	0	0	0	6103	768	27	1	746	1	FUT1	19	49254184	Missense_Mutation	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	8080291	49254184	9874799	61	10470											
ZNF304	57343	genome.wustl.edu	37	chr19	57868276	57868276	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagcctacagcagaAgctcccaccttgttcagcac	9	13	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr19:57868276A>T	ENST00000282286.5	+	3	1212	c.1039A>T	c.(1039-1041)Agc>Tgc	p.S347C	ZNF304_ENST00000391705.3_Missense_Mutation_p.S347C|ZNF304_ENST00000598744.1_Missense_Mutation_p.S305C|ZNF304_ENST00000443917.2_Missense_Mutation_p.S394C			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	347					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		CTACAGCAGAAGCTCCCACCT	0.468																																																	0								ENSG00000131845						63	61	62					19																	57868276		2203	4300	6503	ZNF304	SO:0001583	missense	0			-	HGNC	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1039A>T	19.37:g.57868276A>T	ENSP00000282286:p.Ser347Cys	Somatic	0	42	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S347C	ENST00000282286.5	37	c.1039	CCDS12950.1	19	.	.	.	.	.	.	.	.	.	.	A	11.64	1.700307	0.30142	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.16743	2.32;2.32;5.16	3.51	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	L	0.47716	1.5	0.09310	N	1	D;D	0.61080	0.962;0.989	B;B	0.38264	0.256;0.269	T	0.21280	-1.0250	9	0.46703	T	0.11	.	4.7188	0.12909	0.6991:0.1932:0.1077:0.0	.	347;394	Q9HCX3;E7EQD3	ZN304_HUMAN;.	C	347;347;394	ENSP00000282286:S347C;ENSP00000375586:S347C;ENSP00000401642:S394C	ENSP00000282286:S347C	S	+	1	0	ZNF304	62560088	0.001000	0.12720	0.006000	0.13384	0.997000	0.91878	1.687000	0.37680	0.728000	0.32382	0.477000	0.44152	AGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	protein_coding	OTTHUMT00000465785.1	A		-		57868276	1	no_errors	ENST00000282286	ensembl	human	known	74_37	missense	SNP	0.001	T	T	57868276	A	T	57868276	3	4	139	1	0	0	0	0	1	0	0	0	17840	72	3	5	1049	5	ZNF304	19	57868276	Missense_Mutation	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	8614092	57868276	1260707	62	10471											
FOXS1	2307	genome.wustl.edu	37	chr20	30433004	30433004	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagcacctgtctgccgggtGaagcggcggcggcggcgtag	18	12	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr20:30433004G>A	ENST00000375978.3	-	1	416	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	114					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TCTGCCGGGTGAAGCGGCGGC	0.701																																																	0								ENSG00000179772						15	17	17					20																	30433004		2192	4273	6465	FOXS1	SO:0001819	synonymous_variant	0			-	HGNC	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.342C>T	20.37:g.30433004G>A		Somatic	0	103	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	79	34.17	Q96D28	Silent	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F114	ENST00000375978.3	37	c.342	CCDS13192.1	20																																																																																			-	NULL		0.701	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	protein_coding	OTTHUMT00000078560.2	G	NM_004118	-		30433004	-1	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30433004	G	A	30433004	2	1	139	1	0	0	0	0	0	0	0	1	6037	1281	45	2		2	FOXS1	20	30433004	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09		30433004	32592516	63	10472											
SLC12A5	57468	genome.wustl.edu	37	chr20	44685180	44685180	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgtctcctctgagggcatCaaggacttcttcagcatgaa	9	12	5	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr20:44685180C>T	ENST00000454036.2	+	23	3205	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	SLC12A5_ENST00000243964.3_Silent_p.I1029I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1052					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGAGGGCATCAAGGACTTCT	0.592																																																	0								ENSG00000124140						47	45	46					20																	44685180		2203	4300	6503	SLC12A5	SO:0001819	synonymous_variant	0			-	HGNC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3156C>T	20.37:g.44685180C>T		Somatic	0	54	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	69	16.87	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I1052	ENST00000454036.2	37	c.3156	CCDS46610.1	20																																																																																			-	tigrfam_Na/K/Cl_cotransptS		0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	C		-		44685180	1	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44685180	C	T	44685180	2	4	139	1	0	0	0	0	0	0	0	1	14394	816	29	2		2	SLC12A5	20	44685180	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	14252176	44685180	18340340	64	10473											
LAMA5	3911	genome.wustl.edu	37	chr20	60937454	60937454	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcaaagaagggtccctAcctggcccaggtccagggtg	14	13	0	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr20:60937454A>T	ENST00000252999.3	-	2	517		c.e2+1		LAMA5_ENST00000370677.3_Splice_Site|LAMA5_ENST00000370692.3_Splice_Site	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						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)			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)			AAGGGTCCCTACCTGGCCCAG	0.652																																																	0								ENSG00000130702						89	74	79					20																	60937454		2196	4293	6489	LAMA5	SO:0001630	splice_region_variant	0			-	HGNC	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.450+1T>A	20.37:g.60937454A>T		Somatic	0	66	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	67	30.30	Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	SNP							-	e2+2	ENST00000252999.3	37	c.450+2	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192536	0.78902	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5162	0.67821	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA5	60370849	1.000000	0.71417	0.986000	0.45419	0.713000	0.41058	9.118000	0.94355	1.843000	0.53566	0.459000	0.35465	.	-	-		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	A	NM_005560	-	Intron	60937454	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	60937454	A	T	60937454	5	4	139	1	0	0	0	0	0	0	1	0	8611	405	14	5	10951	5	LAMA5	20	60937454	Splice_Site	SNP	A	TCGA-FX-A3TO-01A-11D-A228-09	16252274	60937454	2088066	65	10474											
MICAL3	57553	genome.wustl.edu	37	chr22	18273498	18273498	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagcgttgggtgggagcTcaggaccagttaaggctgaa	17	6	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr22:18273498T>C	ENST00000441493.2	-	32	6361	c.6009A>G	c.(6007-6009)tgA>tgG	p.*2003W	MICAL3_ENST00000580469.1_5'Flank|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	0					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGTGGGAGCTCAGGACCAGT	0.637																																																	0								ENSG00000243156						25	28	27					22																	18273498		2092	4209	6301	MICAL3	SO:0001578	stop_lost	0			-	HGNC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.6009A>G	22.37:g.18273498T>C	ENSP00000416015:p.*2003Cysext*27	Somatic	0	35	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	14.89	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonstop_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.*2003W	ENST00000441493.2	37	c.6009	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718522	0.68844	.	.	ENSG00000093100	ENST00000441493	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9958	0.71431	0.0:0.0:0.0:1.0	.	.	.	.	W	2003	.	.	X	-	3	0	XXbac-B461K10.4	16653498	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	5.997000	0.70646	2.013000	0.59113	0.459000	0.35465	TGA	-	NULL		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	protein_coding	OTTHUMT00000447351.1	T		-		18273498	-1	no_errors	ENST00000441493	ensembl	human	known	74_37	nonstop	SNP	1.000	C	C	18273498	T	C	18273498	4	2	139	1	0	0	0	0	0	0	0	0	9573	1564	54	5	3	5	MICAL3	22	18273498	Nonstop_Mutation	SNP	T	TCGA-FX-A3TO-01A-11D-A228-09		18273498	33031068	66	10475											
SEZ6L	23544	genome.wustl.edu	37	chr22	26707840	26707840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagttcacctgcgacccCggccactccctggagcaggg	14	15	1	0	rs150994059		TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr22:26707840C>T	ENST00000248933.6	+	8	1883	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	SEZ6L_ENST00000343706.4_Silent_p.P596P|SEZ6L_ENST00000360929.3_Silent_p.P596P|SEZ6L_ENST00000402979.1_Silent_p.P369P|SEZ6L_ENST00000403121.1_Silent_p.P369P|SEZ6L_ENST00000529632.2_Silent_p.P596P|SEZ6L_ENST00000404234.3_Silent_p.P596P			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	596	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGCGACCCCGGCCACTCCC	0.567																																																	0								ENSG00000100095	C	,,,,,	3,4403	6.2+/-15.9	0,3,2200	158	156	156		1788,1788,1788,1788,1788,1788	-4.8	1	22	dbSNP_134	156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,	596/1024,596/1014,596/1012,596/950,596/949,596/1025	26707840	3,13003	2203	4300	6503	SEZ6L	SO:0001819	synonymous_variant	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1788C>T	22.37:g.26707840C>T		Somatic	0	28	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P596	ENST00000248933.6	37	c.1788	CCDS13833.1	22																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	C		rs150994059		26707840	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	SNP	0.327	T	T	26707840	C	T	26707840	2	4	139	1	0	0	0	0	0	0	0	1	14151	639	23	1		1	SEZ6L	22	26707840	Silent	SNP	C	TCGA-FX-A3TO-01A-11D-A228-09	8434342	26707840	24596726	67	10476											
SAPS2	9701	genome.wustl.edu	37	chr22	50870702	50870702	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccgccccccagctgttccaGaagtgctgcctggtgcagag	12	16	0	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chr22:50870702G>C	ENST00000216061.5	+	13	1714	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q448H|PPP6R2_ENST00000359139.3_Missense_Mutation_p.Q448H|PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q449H			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	448						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGCTGTTCCAGAAGTGCTGCC	0.687																																																	0								ENSG00000100239						24	19	21					22																	50870702		2093	4059	6152	PPP6R2	SO:0001583	missense	0			-	HGNC	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1344G>C	22.37:g.50870702G>C	ENSP00000216061:p.Gln448His	Somatic	0	96	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP							pfam_SAPS,superfamily_ARM-type_fold	p.Q448H	ENST00000216061.5	37	c.1344		22	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111884	0.56398	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.35048	1.38;1.38;1.38;1.33	5.44	4.42	0.53409	.	0.109922	0.64402	D	0.000005	T	0.35595	0.0937	L	0.52126	1.63	0.53688	D	0.999974	B;B;B;B;B;B	0.32918	0.39;0.151;0.183;0.175;0.151;0.09	B;B;B;B;B;B	0.35312	0.2;0.103;0.166;0.188;0.103;0.099	T	0.24190	-1.0167	10	0.59425	D	0.04	-13.6412	13.0008	0.58673	0.0796:0.0:0.9204:0.0	.	7;448;448;449;448;448	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	H	448;449;448;448	ENSP00000352051:Q448H;ENSP00000379090:Q449H;ENSP00000379093:Q448H;ENSP00000216061:Q448H	ENSP00000216061:Q448H	Q	+	3	2	PPP6R2	49217568	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.147000	0.50639	1.301000	0.44836	0.563000	0.77884	CAG	-	pfam_SAPS		0.687	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	protein_coding	OTTHUMT00000316809.1	G	NM_014678	-		50870702	1	no_errors	ENST00000216061	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50870702	G	C	50870702	3	2	139	1	0	0	0	0	1	0	0	0	13845	933	33	4	1382	4	SAPS2	22	50870702	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	24162862	50870702	433864	68	10477											
MAGEB1	4112	genome.wustl.edu	37	chrX	30269231	30269231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgatgcctctcctgggtgtGatcttcttaaagggcaactc	10	11	3	2			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chrX:30269231G>A	ENST00000378981.3	+	4	942	c.621G>A	c.(619-621)gtG>gtA	p.V207V	MAGEB1_ENST00000397548.2_Silent_p.V207V|MAGEB1_ENST00000397550.1_Silent_p.V207V	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	207	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCCTGGGTGTGATCTTCTTAA	0.488																																																	0								ENSG00000214107						80	60	67					X																	30269231		2202	4300	6502	MAGEB1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.621G>A	X.37:g.30269231G>A		Somatic	0	18	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V207	ENST00000378981.3	37	c.621	CCDS14222.1	X																																																																																			-	pfam_MAGE,pfscan_MAGE		0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	protein_coding	OTTHUMT00000056160.1	G	NM_002363	-		30269231	1	no_errors	ENST00000378981	ensembl	human	known	74_37	silent	SNP	0.091	A	A	30269231	G	A	30269231	2	1	139	1	0	0	0	0	0	0	0	1	9174	1277	45	2		2	MAGEB1	23	30269231	Silent	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09		30269231	125001329	69	10478											
PORCN	64840	genome.wustl.edu	37	chrX	48374461	48374461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctagtcctccggaagcGcctggctcggatcctcagtg	11	16	1	0			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chrX:48374461G>A	ENST00000326194.6	+	12	1143	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	PORCN_ENST00000367574.4_Missense_Mutation_p.R285H|PORCN_ENST00000359882.4_Missense_Mutation_p.R361H|PORCN_ENST00000355961.4_Missense_Mutation_p.R362H|PORCN_ENST00000355092.3_Missense_Mutation_p.R361H|PORCN_ENST00000537758.1_Missense_Mutation_p.R367H|PORCN_ENST00000361988.3_Missense_Mutation_p.R356H	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	367					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCGGAAGCGCCTGGCTCGG	0.627																																																	0								ENSG00000102312						64	57	59					X																	48374461		2203	4300	6503	PORCN	SO:0001583	missense	0			-	HGNC	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1100G>A	X.37:g.48374461G>A	ENSP00000322304:p.Arg367His	Somatic	0	51	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	98	20	80.99	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP							pfam_MBOAT_fam	p.R367H	ENST00000326194.6	37	c.1100	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251635	0.80135	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.53	4.67	0.58626	.	0.045012	0.85682	D	0.000000	T	0.79441	0.4446	L	0.48642	1.525	0.54753	D	0.99998	D;D;P;D;D	0.89917	1.0;0.998;0.636;1.0;1.0	D;D;B;D;D	0.68765	0.96;0.954;0.206;0.96;0.96	T	0.76088	-0.3087	10	0.29301	T	0.29	-4.5693	11.4586	0.50197	0.09:0.0:0.91:0.0	.	361;367;285;356;362	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	H	361;367;285;362;356;367;361	ENSP00000352946:R361H;ENSP00000446401:R367H;ENSP00000356546:R285H;ENSP00000348233:R362H;ENSP00000354978:R356H;ENSP00000322304:R367H;ENSP00000347207:R361H	ENSP00000322304:R367H	R	+	2	0	PORCN	48259405	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.096000	0.76960	1.100000	0.41517	0.529000	0.55759	CGC	-	pfam_MBOAT_fam		0.627	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	protein_coding	OTTHUMT00000356990.1	G	NM_022825	-		48374461	1	no_errors	ENST00000326194	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48374461	G	A	48374461	3	1	139	1	0	0	0	0	1	0	0	0	12260	1087	38	1	1146	1	PORCN	23	48374461	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	18105230	48374461	106896099	70	10479											
ZCCHC13	389874	genome.wustl.edu	37	chrX	73524388	73524388	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acactgttatacctgcggcaGactaggacatctggctcgtg	11	11	1	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chrX:73524388G>C	ENST00000339534.2	+	1	364	c.287G>C	c.(286-288)aGa>aCa	p.R96T		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	96							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ACCTGCGGCAGACTAGGACAT	0.517																																																	0								ENSG00000187969						113	92	99					X																	73524388		2203	4300	6503	ZCCHC13	SO:0001583	missense	0			-	HGNC	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"Zinc fingers, CCHC domain containing"	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.287G>C	X.37:g.73524388G>C	ENSP00000345633:p.Arg96Thr	Somatic	0	27	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	53	14.52		Missense_Mutation	SNP							pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R96T	ENST00000339534.2	37	c.287	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594479	0.28445	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	-2.86	0.05717	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.219039	0.36591	U	0.002520	T	0.34308	0.0893	L	0.39085	1.19	0.09310	N	1	B	0.20550	0.046	B	0.22880	0.042	T	0.23119	-1.0197	9	0.87932	D	0	.	11.9661	0.53035	0.7266:0.0:0.2734:0.0	.	96	Q8WW36	ZCH13_HUMAN	T	96	.	ENSP00000345633:R96T	R	+	2	0	ZCCHC13	73441113	1.000000	0.71417	0.000000	0.03702	0.036000	0.12997	1.813000	0.38962	-0.925000	0.03775	0.529000	0.55759	AGA	-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC		0.517	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	protein_coding	OTTHUMT00000057260.1	G	NM_203303	-		73524388	1	no_errors	ENST00000339534	ensembl	human	known	74_37	missense	SNP	0.026	C	C	73524388	G	C	73524388	3	2	139	1	0	0	0	0	1	0	0	0	17589	942	33	4	289	4	ZCCHC13	23	73524388	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	25149927	73524388	81746172	71	10480											
BRWD3	254065	genome.wustl.edu	37	chrX	80064059	80064059	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatcctcgaagcttcttcgGtgctctttcccctcccaatc	6	16	2	1			TCGA-FX-A3TO-01A-11D-A228-09	TCGA-FX-A3TO-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1c07e88-920e-4b30-8c6d-207e72f77f25	fcdad24d-eab3-4b5d-98a2-470456e019cf	g.chrX:80064059G>C	ENST00000373275.4	-	4	375	c.159C>G	c.(157-159)caC>caG	p.H53Q		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	53					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						AGCTTCTTCGGTGCTCTTTCC	0.547																																																	0								ENSG00000165288						55	52	53					X																	80064059		2203	4300	6503	BRWD3	SO:0001583	missense	0			-	HGNC		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.159C>G	X.37:g.80064059G>C	ENSP00000362372:p.His53Gln	Somatic	0	32	0		0.655433629215123				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	87	13.86	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.H53Q	ENST00000373275.4	37	c.159	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680129	0.47886	.	.	ENSG00000165288	ENST00000373275	T	0.28666	1.6	4.97	1.95	0.26073	.	0.071956	0.56097	D	0.000027	T	0.49712	0.1573	M	0.85197	2.74	0.27558	N	0.950273	D	0.76494	0.999	D	0.70487	0.969	T	0.43475	-0.9389	9	.	.	.	-16.0968	2.7093	0.05170	0.2553:0.0:0.5155:0.2292	.	53	Q6RI45	BRWD3_HUMAN	Q	53	ENSP00000362372:H53Q	.	H	-	3	2	BRWD3	79950715	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.614000	0.36911	0.486000	0.27676	0.495000	0.49567	CAC	-	NULL		0.547	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	protein_coding	OTTHUMT00000057344.1	G	NM_153252	-		80064059	-1	no_errors	ENST00000373275	ensembl	human	known	74_37	missense	SNP	0.998	C	C	80064059	G	C	80064059	3	2	139	1	0	0	0	0	1	0	0	0	1528	1252	44	4	5401	4	BRWD3	23	80064059	Missense_Mutation	SNP	G	TCGA-FX-A3TO-01A-11D-A228-09	6539671	80064059	75206501	72	10481											
FAM151A	338094	genome.wustl.edu	37	chr1	55081801	55081801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtctcattggctgtgcCgagcccttctacattgacgt	9	13	2	1	rs202087836		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr1:55081801C>T	ENST00000302250.2	-	3	467	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.G103S	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	103						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TTGGCTGTGCCGAGCCCTTCT	0.512													C|||	1	0.000199681	0	0	5008	,	,		16678	0.001		0	False		,,,				2504	0																0								ENSG00000162391						119	95	103					1																	55081801		2203	4300	6503	FAM151A	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.307G>A	1.37:g.55081801C>T	ENSP00000306888:p.Gly103Ser	Somatic	0	41	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	28	0	0	34	0.00	0	pfam_DUF2181	p.G103S	ENST00000302250.2	37	c.307	CCDS594.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.69	2.014706	0.35511	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.10763	2.84;2.84	3.95	-5.22	0.02806	.	1.796490	0.02156	N	0.058403	T	0.12305	0.0299	M	0.65975	2.015	0.09310	N	1	B	0.33477	0.413	B	0.28011	0.085	T	0.30909	-0.9962	10	0.51188	T	0.08	-1.3516	8.0804	0.30741	0.1147:0.1749:0.0:0.7104	.	103	Q8WW52	F151A_HUMAN	S	103	ENSP00000306888:G103S;ENSP00000360353:G103S	ENSP00000294370:G103S	G	-	1	0	FAM151A	54854389	0.199000	0.23386	0.003000	0.11579	0.922000	0.55478	0.106000	0.15354	-1.184000	0.02720	0.455000	0.32223	GGC	-	pfam_DUF2181		0.512	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	protein_coding	OTTHUMT00000027342.1	C	NM_176782	rs202087836		55081801	-1	no_errors	ENST00000302250	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55081801	C	T	55081801	3	4	140	1	0	0	0	0	1	0	0	0	5460	652	23	1	1474	1	FAM151A	1	55081801	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		55081801	194168820	1	10482											
TM2D1	83941	genome.wustl.edu	37	chr1	62190776	62190776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagcagacggaccagacGgccaggcggccgccatcttg	15	15	1	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr1:62190776G>A	ENST00000606498.1	-	1	37	c.17C>T	c.(16-18)cCg>cTg	p.P6L	TM2D1_ENST00000371180.2_Missense_Mutation_p.P68L|TM2D1_ENST00000294613.5_Missense_Mutation_p.P6L|TM2D1_ENST00000371177.2_Missense_Mutation_p.P6L			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	6					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CGGACCAGACGGCCAGGCGGC	0.662																																																	0								ENSG00000162604						35	42	40					1																	62190776		1913	4090	6003	TM2D1	SO:0001583	missense	0			-	HGNC	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.17C>T	1.37:g.62190776G>A	ENSP00000475700:p.Pro6Leu	Somatic	0	56	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	5	82.76	A6NDA8	Missense_Mutation	SNP	30	0	0	5	85.71	30	pfam_TM2	p.P68L	ENST00000606498.1	37	c.203		1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686813	0.48097	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.69	3.7	0.42460	.	1.025170	0.07796	N	0.955791	T	0.35393	0.0930	L	0.44542	1.39	0.09310	N	1	B	0.27971	0.196	B	0.14578	0.011	T	0.16719	-1.0393	9	0.72032	D	0.01	-1.8948	9.5646	0.39391	0.0:0.0:0.7907:0.2093	.	6	Q9BX74	TM2D1_HUMAN	L	68;6;6;6	.	ENSP00000294613:P6L	P	-	2	0	TM2D1	61963364	0.015000	0.18098	0.016000	0.15963	0.024000	0.10985	2.006000	0.40874	2.581000	0.87130	0.462000	0.41574	CCG	-	NULL		0.662	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	protein_coding	OTTHUMT00000470779.2	G	NM_032027	-		62190776	-1	no_errors	ENST00000371180	ensembl	human	known	74_37	missense	SNP	0.004	A	A	62190776	G	A	62190776	3	1	140	1	0	0	0	0	1	0	0	0	15970	1116	39	1	630	1	TM2D1	1	62190776	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	7108975	62190776	187059845	2	10483											
ANP32E	81611	genome.wustl.edu	37	chr1	150199040	150199045	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-													cttcatcctcatcctcatccTcctcttcctcttcctcctcc					rs56692627|rs28594165|rs68136184|rs28460085	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	TCCTCT	TCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr1:150199040_150199045delTCCTCT	ENST00000314136.8	-	5	945_950	c.576_581delAGAGGA	c.(574-582)gaagaggag>gag	p.192_194EEE>E	ANP32E_ENST00000369116.4_In_Frame_Del_p.60_62EEE>E|ANP32E_ENST00000369119.3_In_Frame_Del_p.144_146EEE>E|ANP32E_ENST00000533654.1_In_Frame_Del_p.KR137del|ANP32E_ENST00000369115.2_In_Frame_Del_p.60_62EEE>E|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000436748.2_In_Frame_Del_p.151_153EEE>E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			atcctcatcctcctcttcctcttcct	0.437														1756	0.350639	0.1596	0.3559	5008	,	,		19419	0.5446		0.2753	False		,,,				2504	0.4826																0								ENSG00000143401		,,	627,3639		79,469,1585					,,	-6.5	0		dbSNP_130	261	1908,6340		294,1320,2510	no	coding,coding,coding	ANP32E	NM_030920.3,NM_001136479.1,NM_001136478.2	,,	373,1789,4095	A1A1,A1R,RR		23.1329,14.6976,20.2573	,,	,,		2535,9979				ANP32E	SO:0001651	inframe_deletion	0				HGNC	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576_581delAGAGGA	1.37:g.150199046_150199051delTCCTCT	ENSP00000324074:p.Glu192_Glu193del	Somatic					0.693536108497017				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	In_Frame_Del	DEL	25	28.57	10	56	23.29	17	pfam_Leu-rich_rpt	p.EE193in_frame_del	ENST00000314136.8	37	c.581_576	CCDS946.1	1																																																																																			-	NULL		0.437	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32E	protein_coding	OTTHUMT00000035056.1	TCCTCT	NM_030920			150199045	-1	no_errors	ENST00000314136	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.006:0.000:0.058:0.106:0.091	-	-	150199045	TCCTCT	-	150199040	7	5	140	1	0	1	0	1	0	0	0	0	709	1551	54	0	237	0	ANP32E	1	150199040	In_Frame_Del	DEL	TCCTCT	TCGA-FX-A48G-01A-11D-A24N-09	88008264	150199040	99051581	3	10484											
LOR	4014	genome.wustl.edu	37	chr1	153233991	153233992	+	In_Frame_Ins	INS	-	-	CTCTGGCGGCGG													ggcggctctgtctgcggctaINSctctggcggcggctctggct					rs11272549|rs547333583|rs561634896	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr1:153233991_153233992insCTCTGGCGGCGG	ENST00000368742.3	+	2	623_624	c.566_567insCTCTGGCGGCGG	c.(565-570)tactct>taCTCTGGCGGCGGctct	p.194_195insGGGS		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	194					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggcg	0.743														3247	0.648363	0.6664	0.7954	5008	,	,		5032	0.4563		0.7147	False		,,,				2504	0.6493																0								ENSG00000203782			178,190		86,6,92						-7.1	0		dbSNP_120	1	749,435		350,49,193	no	coding	LOR	NM_000427.2		436,55,285	A1A1,A1R,RR		36.7399,48.3696,40.2706				927,625				LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.567_578dupCTCTGGCGGCGG	1.37:g.153233991_153233992insCTCTGGCGGCGG	ENSP00000357731:p.Gly191_Ser194dup	Somatic									WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T869|Q5XKF8	In_Frame_Ins	INS	6	45.45	5	25	13.79	4	NULL	p.193in_frame_insGSGG	ENST00000368742.3	37	c.566_567	CCDS30870.1	1																																																																																			-	NULL		0.743	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233992	1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.014:0.200	CTCTGGCGGCGG	CTCTGGCGGCGG	153233992	-	CTCTGGCGGCGG	153233991	7	5	140	1	0	1	1	0	0	0	0	0	8899	391	14	0	568	0	LOR	1	153233991	In_Frame_Ins	INS	-	TCGA-FX-A48G-01A-11D-A24N-09	3034951	153233991	96016630	4	10485											
ARHGEF11	9826	genome.wustl.edu	37	chr1	156950243	156950243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcactttgatgatccggtCgccctctttcacaccggcct	7	16	3	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr1:156950243C>T	ENST00000361409.2	-	4	1001	c.259G>A	c.(259-261)Gac>Aac	p.D87N	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D87N	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	87	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)					ATGATCCGGTCGCCCTCTTTC	0.572																																																	0								ENSG00000132694						121	75	91					1																	156950243		2203	4300	6503	ARHGEF11	SO:0001583	missense	0			-	HGNC	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.259G>A	1.37:g.156950243C>T	ENSP00000354644:p.Asp87Asn	Somatic	0	100	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	120	9.77	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	27	0	0	50	9.09	5	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.D87N	ENST00000361409.2	37	c.259	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728238	0.89390	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.74002	-0.8;-0.8	5.1	5.1	0.69264	PDZ/DHR/GLGF (4);	0.000000	0.53938	D	0.000041	D	0.89406	0.6706	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92087	0.5677	10	0.87932	D	0	-27.7894	15.5494	0.76137	0.0:1.0:0.0:0.0	.	87;87	O15085;O15085-2	ARHGB_HUMAN;.	N	87	ENSP00000357177:D87N;ENSP00000354644:D87N	ENSP00000354644:D87N	D	-	1	0	ARHGEF11	155216867	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	5.476000	0.66793	2.663000	0.90544	0.655000	0.94253	GAC	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	protein_coding	OTTHUMT00000098931.1	C	NM_198236	-		156950243	-1	no_errors	ENST00000368194	ensembl	human	known	74_37	missense	SNP	0.988	T	T	156950243	C	T	156950243	3	4	140	1	0	0	0	0	1	0	0	0	896	884	31	1	4581	1	ARHGEF11	1	156950243	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	3716252	156950243	92300378	5	10486											
ASTN1	460	genome.wustl.edu	37	chr1	177001821	177001821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggctctcccgtccGtgcccgccgatcagcacaga	11	17	2	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr1:177001821G>A	ENST00000367654.3	-	3	847	c.636C>T	c.(634-636)caC>caT	p.H212H	ASTN1_ENST00000424564.2_Silent_p.H212H|ASTN1_ENST00000367657.3_Silent_p.H212H|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	212					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCCCGTCCGTGCCCGCCGA	0.627																																																	0								ENSG00000152092						64	53	57					1																	177001821		2203	4300	6503	ASTN1	SO:0001819	synonymous_variant	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.636C>T	1.37:g.177001821G>A		Somatic	0	52	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	45	32.84	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	18	0	0	49	35.53	27	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.H212	ENST00000367654.3	37	c.636		1																																																																																			-	NULL		0.627	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		G	NM_004319	-		177001821	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	SNP	0.099	A	A	177001821	G	A	177001821	2	1	140	1	0	0	0	0	0	0	0	1	1064	1136	40	1		1	ASTN1	1	177001821	Silent	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	20051578	177001821	72248800	6	10487											
ACP1	52	genome.wustl.edu	37	chr2	272145	272145	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccatgagccacgttgccCggcaggtaccgtccttggac	11	15	0	1	rs201625066		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr2:272145C>A	ENST00000272065.5	+	3	319	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	ACP1_ENST00000272067.6_Intron|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000407983.3_Silent_p.R76R	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	76						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	CCACGTTGCCCGGCAGGTACC	0.582																																																	0								ENSG00000143727						165	139	148					2																	272145		2203	4300	6503	ACP1	SO:0001819	synonymous_variant	0			-	HGNC	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.226C>A	2.37:g.272145C>A		Somatic	0	111	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Silent	SNP	27	0	0	28	0.00	0	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.R76	ENST00000272065.5	37	c.226	CCDS1639.1	2																																																																																			-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml		0.582	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	protein_coding	OTTHUMT00000195862.3	C		-		272145	1	no_errors	ENST00000272065	ensembl	human	known	74_37	silent	SNP	1.000	A	A	272145	C	A	272145	2	1	140	1	0	0	0	0	0	0	0	1	162	643	23	3		3	ACP1	2	272145	Silent	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		272145	242927228	7	10488											
TRAK1	22906	genome.wustl.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGA													caggagccgccagcggccacINSggaggaggaggaggaggagg					rs10634555|rs35624871		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					GBM(44;195 884 22595 31865 41850)												1	Deletion - In frame(1)	kidney(1)						ENSG00000182606																																			TRAK1	SO:0001627	intron_variant	0				HGNC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA		Somatic	0	23	0		0.693536108497017				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	13	18.75	3	36	5.26	2	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.634in_frame_insE	ENST00000327628.5	37	c.1889_1890	CCDS43072.1	3																																																																																			-	NULL		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	protein_coding	OTTHUMT00000343413.1	-	NM_014965			42251578	1	no_errors	ENST00000341421	ensembl	human	known	74_37	in_frame_ins	INS	0.010:0.044	GGA	GGA	42251578	-	GGA	42251577	6	5	140	0	1	1	1	0	0	0	0	0	16456	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-FX-A48G-01A-11D-A24N-09		42251577	155770853	8	10489											
GPR125	166647	genome.wustl.edu	37	chr4	22404357	22404357	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataagaggagaatgatagcGgtagtataaaccacaggatg	12	5	0	3	rs61736467	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr4:22404357G>T	ENST00000334304.5	-	15	2567	c.2298C>A	c.(2296-2298)acC>acA	p.T766T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	766					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)				GAATGATAGCGGTAGTATAAA	0.443																																																	0								ENSG00000152990						112	113	113					4																	22404357		2203	4300	6503	GPR125	SO:0001819	synonymous_variant	0			-	HGNC	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.2298C>A	4.37:g.22404357G>T		Somatic	0	51	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	41	0	0	65	0.00	0	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.T766	ENST00000334304.5	37	c.2298	CCDS33964.1	4																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	G		-		22404357	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	silent	SNP	0.819	T	T	22404357	G	T	22404357	2	4	140	1	0	0	0	0	0	0	0	1	6641	1103	39	3		3	GPR125	4	22404357	Silent	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09		22404357	168749919	9	10490											
GPRIN3	285513	genome.wustl.edu	37	chr4	90168982	90168982	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acgcagcagttggggcgtcgGaagttctgcagcatggactg	16	9	1	0			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr4:90168982G>C	ENST00000609438.1	-	2	2798	c.2280C>G	c.(2278-2280)ttC>ttG	p.F760L	GPRIN3_ENST00000333209.4_Missense_Mutation_p.F760L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	760										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGGGCGTCGGAAGTTCTGCA	0.468																																																	0								ENSG00000185477						114	117	116					4																	90168982		2203	4300	6503	GPRIN3	SO:0001583	missense	0			-	HGNC	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2280C>G	4.37:g.90168982G>C	ENSP00000476603:p.Phe760Leu	Somatic	0	46	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	26	51.85	Q8IVE4	Missense_Mutation	SNP	40	0	0	42	41.67	30	NULL	p.F760L	ENST00000609438.1	37	c.2280	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423958	0.62733	.	.	ENSG00000185477	ENST00000333209	T	0.18338	2.22	5.26	-10.5	0.00291	.	0.000000	0.35151	N	0.003417	T	0.05868	0.0153	N	0.04090	-0.28	0.23150	N	0.998215	B	0.24043	0.096	B	0.25614	0.062	T	0.22347	-1.0219	10	0.52906	T	0.07	-6.5429	12.9534	0.58413	0.6275:0.2128:0.1597:0.0	.	760	Q6ZVF9	GRIN3_HUMAN	L	760	ENSP00000328672:F760L	ENSP00000328672:F760L	F	-	3	2	GPRIN3	90388005	0.016000	0.18221	0.003000	0.11579	0.985000	0.73830	-0.763000	0.04740	-3.183000	0.00221	0.655000	0.94253	TTC	-	NULL		0.468	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	G	NM_198281	-		90168982	-1	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	SNP	0.015	C	C	90168982	G	C	90168982	3	2	140	1	0	0	0	0	1	0	0	0	6733	1165	41	4	54	4	GPRIN3	4	90168982	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	67764625	90168982	100985294	10	10491											
MSH3	4437	genome.wustl.edu	37	chr5	79950712	79950738	+	In_Frame_Del	DEL	GCGGCCGCAGCGGCCGCAGCGCCCCCA	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-													ctggcgctgcagcggctgcaGcggccgcagcggccgcagcg					rs2431220|rs2001675|rs2405876|rs2405877|rs201874762|rs144776112|rs1574197|rs148550291|rs201906899|rs535056167|rs60484572|rs70991168|rs201149584	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	GCGGCCGCAGCGGCCGCAGCGCCCCCA	GCGGCCGCAGCGGCCGCAGCGCCCCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr5:79950712_79950738delGCGGCCGCAGCGGCCGCAGCGCCCCCA	ENST00000265081.6	+	1	246_272	c.166_192delGCGGCCGCAGCGGCCGCAGCGCCCCCA	c.(166-192)gcggccgcagcggccgcagcgcccccadel	p.AAAAAAAPP56del	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	56	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		agcggctgcagcggccgcagcggccgcagcgCCCCCAGCGCCCCCAG	0.705								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318																																			MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.166_192delGCGGCCGCAGCGGCCGCAGCGCCCCCA	5.37:g.79950712_79950738delGCGGCCGCAGCGGCCGCAGCGCCCCCA	ENSP00000265081:p.Ala56_Pro64del	Somatic					0.693536108497017				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	13	0	0	28	0.00	0	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAAPPA57in_frame_del	ENST00000265081.6	37	c.166_192	CCDS34195.1	5																																																																																			-	NULL		0.705	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCGGCCGCAGCGGCCGCAGCGCCCCCA	NM_002439			79950738	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.238:0.205:0.172:0.140:0.107:0.075:0.032:0.035:0.048:0.057:0.087:0.730:0.747:0.894:0.911:0.915:0.941:0.965:0.997:1.000:1.000:1.000:1.000:0.988:0.984:0.963:0.965	-	-	79950738	GCGGCCGCAGCGGCCGCAGCGCCCCCA	-	79950712	7	5	140	1	0	1	0	1	0	0	0	0	9873	971	34	0	168	0	MSH3	5	79950712	In_Frame_Del	DEL	GCGGCCGCAGCGGCCGCAGCGCCCCCA	TCGA-FX-A48G-01A-11D-A24N-09		79950712	100964548	11	10492											
FBXO38	81545	genome.wustl.edu	37	chr5	147806999	147806999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accgccagcacagtgggaaaCtccagctcacacaacactgc	8	16	1	0			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr5:147806999C>G	ENST00000340253.5	+	15	2310	c.2142C>G	c.(2140-2142)aaC>aaG	p.N714K	FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Missense_Mutation_p.N714K|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	714					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGGGAAACTCCAGCTCAC	0.512																																																	0								ENSG00000145868						55	47	50					5																	147806999		2203	4300	6503	FBXO38	SO:0001583	missense	0			-	HGNC	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2142C>G	5.37:g.147806999C>G	ENSP00000342023:p.Asn714Lys	Somatic	0	10	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	32	0	0	38	39.68	25	superfamily_F-box_dom	p.N714K	ENST00000340253.5	37	c.2142		5	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801683	0.31869	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.29917	1.55;1.57	5.63	4.75	0.60458	.	0.785760	0.12822	N	0.436343	T	0.17365	0.0417	N	0.24115	0.695	0.80722	D	1	B;B	0.27732	0.11;0.187	B;B	0.22601	0.025;0.04	T	0.10291	-1.0636	10	0.18276	T	0.48	-2.6714	6.0471	0.19766	0.1547:0.6902:0.0:0.1551	.	714;714	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	K	714	ENSP00000342023:N714K;ENSP00000377895:N714K	ENSP00000342023:N714K	N	+	3	2	FBXO38	147787192	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	0.969000	0.29370	2.644000	0.89710	0.655000	0.94253	AAC	-	NULL		0.512	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	protein_coding	OTTHUMT00000252185.2	C	NM_030793	-		147806999	1	no_errors	ENST00000340253	ensembl	human	known	74_37	missense	SNP	0.980	G	G	147806999	C	G	147806999	3	3	140	1	0	0	0	0	1	0	0	0	5748	564	20	4	2196	4	FBXO38	5	147806999	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	67856287	147806999	33108261	12	10493											
HAVCR1	26762	genome.wustl.edu	37	chr5	156479558	156479572	+	In_Frame_Del	DEL	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	-													tgttgttggaacagttgtcgTtggaacagtcgtcattggaa					rs386693994|rs139041445|rs6149307|rs10068551|rs141023871|rs77147640|rs376729615|rs183130208|rs2862716	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr5:156479558_156479572delTTGGAACAGTCGTCA	ENST00000339252.3	-	3	1005_1019	c.473_487delTGACGACTGTTCCAA	c.(472-489)atgacgactgttccaacg>acg	p.MTTVP158del	HAVCR1_ENST00000522693.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000425854.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000544197.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000523175.1_In_Frame_Del_p.MTTVP158del	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T160_V161insT(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGTTGTCGTTGGAACAGTCGTCATTGGAACAGT	0.488														2916	0.582268	0.2579	0.6787	5008	,	,		26558	0.7629		0.6282	False		,,,				2504	0.7188																1	Insertion - In frame(1)	ovary(1)						ENSG00000113249		,,	1966,2046		278,1410,318					,,	-1.5	0		dbSNP_127	595	4901,3081		1333,2235,423	no	coding,coding,coding	HAVCR1	NM_012206.2,NM_001173393.1,NM_001099414.1	,,	1611,3645,741	A1A1,A1R,RR		38.5993,49.003,42.7464	,,	,,		6867,5127				HAVCR1	SO:0001651	inframe_deletion	0				HGNC	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.473_487delTGACGACTGTTCCAA	5.37:g.156479558_156479572delTTGGAACAGTCGTCA	ENSP00000344844:p.Met158_Pro162del	Somatic									WXS	Illumina HiSeq 2500	Phase_IV	tier1				O43656	In_Frame_Del	DEL	25	7.41	2	42	20.75	11	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.MTTVP158in_frame_del	ENST00000339252.3	37	c.487_473	CCDS43392.1	5																																																																																			-	NULL		0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR1	protein_coding	OTTHUMT00000373698.1	TTGGAACAGTCGTCA				156479572	-1	no_errors	ENST00000425854	ensembl	human	known	74_37	in_frame_del	DEL	0.011:0.025:0.031:0.006:0.001:0.001:0.002:0.007:0.020:0.018:0.001:0.000:0.000:0.000:0.000	-	-	156479572	TTGGAACAGTCGTCA	-	156479558	7	5	140	1	0	1	0	1	0	0	0	0	6975	1725	60	0	631	0	HAVCR1	5	156479558	In_Frame_Del	DEL	TTGGAACAGTCGTCA	TCGA-FX-A48G-01A-11D-A24N-09	8672559	156479558	24435702	13	10494											
SLC17A4	10050	genome.wustl.edu	37	chr6	25771211	25771211	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcctctgccagaccaTaggatggccttacgtcttct	9	13	4	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr6:25771211T>A	ENST00000377905.4	+	6	796	c.677T>A	c.(676-678)aTa>aAa	p.I226K	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	226					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCCAGACCATAGGATGGCCT	0.458																																																	0								ENSG00000146039						310	291	297					6																	25771211		2203	4300	6503	SLC17A4	SO:0001583	missense	0			-	HGNC	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.677T>A	6.37:g.25771211T>A	ENSP00000367137:p.Ile226Lys	Somatic	0	128	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	6	87.76	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	41	0	0	6	85.71	36	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I226K	ENST00000377905.4	37	c.677	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610253	0.66558	.	.	ENSG00000146039	ENST00000377905	T	0.59364	0.27	5.69	1.9	0.25705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.283730	0.05320	N	0.526459	T	0.26882	0.0658	L	0.42744	1.35	0.09310	N	1	B	0.15473	0.013	B	0.19148	0.024	T	0.23048	-1.0199	10	0.44086	T	0.13	.	4.2972	0.10908	0.1508:0.1684:0.0:0.6807	.	226	Q9Y2C5	S17A4_HUMAN	K	226	ENSP00000367137:I226K	ENSP00000367137:I226K	I	+	2	0	SLC17A4	25879190	0.160000	0.22878	0.003000	0.11579	0.956000	0.61745	2.253000	0.43205	0.500000	0.27991	0.533000	0.62120	ATA	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.458	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	protein_coding	OTTHUMT00000040068.1	T		-		25771211	1	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	SNP	0.004	A	A	25771211	T	A	25771211	3	1	140	1	0	0	0	0	1	0	0	0	14427	1406	49	5	695	5	SLC17A4	6	25771211	Missense_Mutation	SNP	T	TCGA-FX-A48G-01A-11D-A24N-09		25771211	145343856	14	10495											
KLC4	89953	genome.wustl.edu	37	chr6	43041689	43041689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatctgaaccaacctagtGcagcacccctccaggtgaga	8	14	1	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr6:43041689G>A	ENST00000394056.2	+	16	2290	c.1795G>A	c.(1795-1797)Gca>Aca	p.A599T	KLC4_ENST00000347162.5_Missense_Mutation_p.A599T|PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000479388.1_Missense_Mutation_p.A599T|PTK7_ENST00000352931.2_5'Flank|KLC4_ENST00000259708.3_Missense_Mutation_p.A617T|PTK7_ENST00000481273.1_5'Flank|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000394058.1_Missense_Mutation_p.A599T|PTK7_ENST00000345201.2_5'Flank|KLC4_ENST00000453940.2_Missense_Mutation_p.A522T|PTK7_ENST00000471863.1_5'Flank|PTK7_ENST00000349241.2_5'Flank|PTK7_ENST00000230419.4_5'Flank			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	599						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CCAACCTAGTGCAGCACCCCT	0.527																																																	0								ENSG00000137171						131	113	119					6																	43041689		2203	4300	6503	KLC4	SO:0001583	missense	0			-	HGNC	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1795G>A	6.37:g.43041689G>A	ENSP00000377620:p.Ala599Thr	Somatic	0	127	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	76	34.75	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	27	0	0	48	31.43	22	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A617T	ENST00000394056.2	37	c.1849	CCDS4883.1	6	.	.	.	.	.	.	.	.	.	.	G	9.486	1.099428	0.20552	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.77750	-1.11;-1.12;-1.12;-1.11;-1.11;-1.11	5.44	3.65	0.41850	.	0.696719	0.13520	N	0.381766	T	0.35711	0.0941	N	0.14661	0.345	0.25762	N	0.984934	B;B;B	0.29716	0.255;0.0;0.0	B;B;B	0.24394	0.053;0.001;0.0	T	0.12372	-1.0550	10	0.23302	T	0.38	-24.0412	6.9889	0.24743	0.0884:0.0:0.7402:0.1714	.	522;617;599	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	T	599;522;617;599;599;599	ENSP00000340221:A599T;ENSP00000395806:A522T;ENSP00000259708:A617T;ENSP00000418031:A599T;ENSP00000377620:A599T;ENSP00000377622:A599T	ENSP00000259708:A617T	A	+	1	0	KLC4	43149667	1.000000	0.71417	0.737000	0.30932	0.599000	0.36880	2.895000	0.48648	0.656000	0.30886	-0.258000	0.10820	GCA	-	NULL		0.527	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLC4	protein_coding	OTTHUMT00000040579.2	G	NM_138343	-		43041689	1	no_errors	ENST00000259708	ensembl	human	known	74_37	missense	SNP	0.909	A	A	43041689	G	A	43041689	3	1	140	1	0	0	0	0	1	0	0	0	8338	1319	46	2	1976	2	KLC4	6	43041689	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	17270478	43041689	128073378	15	10496											
HMGCLL1	54511	genome.wustl.edu	37	chr6	55406543	55406543	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atacctgtggtacccatctgGaagacacaaagctagtcact	8	11	2	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr6:55406543G>C	ENST00000398661.2	-	4	502	c.371C>G	c.(370-372)tCc>tGc	p.S124C	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S94C|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.S94C|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.S94C|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S94C|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S94C	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	124					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCCATCTGGAAGACACAAA	0.318																																					Ovarian(35;840 893 7837 15538 42887)												0								ENSG00000146151						85	83	83					6																	55406543		1808	4073	5881	HMGCLL1	SO:0001583	missense	0			-	HGNC	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.371C>G	6.37:g.55406543G>C	ENSP00000381654:p.Ser124Cys	Somatic	0	69	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	41	54.44	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	46	0	0	33	41.07	23	pfam_PYR_CT,pfscan_PYR_CT	p.S124C	ENST00000398661.2	37	c.371	CCDS43475.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315658	0.81469	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.98329	-4.73;-4.73;-4.48;-4.73;-4.87;-4.73	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.998;0.996;0.997	D;D;D;D;D;D	0.80764	0.98;0.994;0.951;0.973;0.951;0.971	D	0.99851	1.1071	10	0.87932	D	0	-18.5351	20.4387	0.99107	0.0:0.0:1.0:0.0	.	94;94;94;94;94;124	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	C	94;124;94;94;94;94	ENSP00000274901:S94C;ENSP00000381654:S124C;ENSP00000359887:S94C;ENSP00000424309:S94C;ENSP00000309737:S94C;ENSP00000412924:S94C	ENSP00000274901:S94C	S	-	2	0	HMGCLL1	55514502	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	8.795000	0.91872	2.836000	0.97738	0.655000	0.94253	TCC	-	pfam_PYR_CT,pfscan_PYR_CT		0.318	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	protein_coding	OTTHUMT00000360290.1	G	XM_166383	-		55406543	-1	no_errors	ENST00000398661	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55406543	G	C	55406543	3	2	140	1	0	0	0	0	1	0	0	0	7232	1174	41	4	769	4	HMGCLL1	6	55406543	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	12364854	55406543	115708524	16	10497											
ANKRD6	22881	genome.wustl.edu	37	chr6	90333179	90333179	+	Frame_Shift_Del	DEL	A	A	-													agtgaacaggctgtggccagAaaagaagaagccagagaaga							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr6:90333179delA	ENST00000522441.1	+	11	1589	c.948delA	c.(946-948)agafs	p.R316fs	ANKRD6_ENST00000447838.2_Frame_Shift_Del_p.R316fs|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Frame_Shift_Del_p.R316fs|ANKRD6_ENST00000520793.1_Frame_Shift_Del_p.R257fs|ANKRD6_ENST00000369408.5_Frame_Shift_Del_p.R281fs	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	316					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CTGTGGCCAGAAAAGAAGAAG	0.537																																																	0								ENSG00000135299						37	42	41					6																	90333179		1888	4117	6005	ANKRD6	SO:0001589	frameshift_variant	0				HGNC	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.948delA	6.37:g.90333179delA	ENSP00000430985:p.Arg316fs	Somatic	0	25	0		0.693536108497017				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Frame_Shift_Del	DEL	25	0	0	51	0.00	0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E318fs	ENST00000522441.1	37	c.948	CCDS56441.1	6																																																																																			-	NULL		0.537	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	protein_coding	OTTHUMT00000376594.1	A				90333179	1	no_errors	ENST00000339746	ensembl	human	known	74_37	frame_shift_del	DEL	0.046	-	-	90333179	A	-	90333179	7	5	140	1	0	1	0	1	0	0	0	0	685	243	9	0	986	0	ANKRD6	6	90333179	Frame_Shift_Del	DEL	A	TCGA-FX-A48G-01A-11D-A24N-09	34926636	90333179	80781888	17	10498											
PREP	5550	genome.wustl.edu	37	chr6	105726234	105726234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggaccacgcggtcatcatGgtcagcagtgaggagcagca	15	11	3	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr6:105726234G>T	ENST00000369110.3	-	15	2110	c.1918C>A	c.(1918-1920)Cat>Aat	p.H640N	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	640					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGTCATCATGGTCAGCAGTG	0.522																																																	0								ENSG00000085377						116	109	111					6																	105726234		2203	4300	6503	PREP	SO:0001583	missense	0			-	HGNC		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1918C>A	6.37:g.105726234G>T	ENSP00000358106:p.His640Asn	Somatic	0	36	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8N6D4	Missense_Mutation	SNP	32	0	0	72	0.00	0	pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A	p.H640N	ENST00000369110.3	37	c.1918	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888714	0.91814	.	.	ENSG00000085377	ENST00000369110	T	0.30714	1.52	5.88	5.88	0.94601	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.50939	-0.8768	10	0.66056	D	0.02	-29.5648	20.2279	0.98344	0.0:0.0:1.0:0.0	.	640	P48147	PPCE_HUMAN	N	640	ENSP00000358106:H640N	ENSP00000358106:H640N	H	-	1	0	PREP	105832927	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.476000	0.97823	2.778000	0.95560	0.655000	0.94253	CAT	-	pfam_Peptidase_S9,prints_Peptidase_S9A		0.522	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	protein_coding	OTTHUMT00000041658.1	G		-		105726234	-1	no_errors	ENST00000369110	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105726234	G	T	105726234	3	4	140	1	0	0	0	0	1	0	0	0	12479	1348	47	3	218	3	PREP	6	105726234	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	15393055	105726234	65388833	18	10499											
NDUFA4	4697	genome.wustl.edu	37	chr7	10978463	10978463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggattgaacaatgccagacGcaagagatacagtgttgctc	11	8	0	3	rs373923920		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr7:10978463G>T	ENST00000339600.5	-	2	301	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	NDUFA4_ENST00000492822.1_5'Flank|RP5-855F16.1_ENST00000604183.1_lincRNA	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	35					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|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 I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AATGCCAGACGCAAGAGATAC	0.388																																																	0								ENSG00000189043						88	91	90					7																	10978463		2203	4300	6503	NDUFA4	SO:0001583	missense	0			-	HGNC	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit"	603833	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.103C>A	7.37:g.10978463G>T	ENSP00000339720:p.Arg35Ser	Somatic	0	22	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A4D109|Q6FHN5	Missense_Mutation	SNP	27	0	0	81	0.00	0	NULL	p.R35S	ENST00000339600.5	37	c.103	CCDS5357.1	7	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512402	0.27123	.	.	ENSG00000189043	ENST00000339600	D	0.86769	-2.17	4.97	4.97	0.65823	.	0.053690	0.85682	D	0.000000	D	0.86514	0.5951	.	.	.	0.53005	D	0.999966	B	0.33549	0.417	B	0.40375	0.327	D	0.86216	0.1628	9	0.54805	T	0.06	-5.7026	13.9257	0.63961	0.0:0.0:1.0:0.0	.	35	O00483	NDUA4_HUMAN	S	35	ENSP00000339720:R35S	ENSP00000339720:R35S	R	-	1	0	NDUFA4	10944988	1.000000	0.71417	0.298000	0.25002	0.017000	0.09413	4.828000	0.62730	2.748000	0.94277	0.655000	0.94253	CGT	-	NULL		0.388	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA4	protein_coding	OTTHUMT00000207507.3	G	NM_002489	-		10978463	-1	no_errors	ENST00000339600	ensembl	human	known	74_37	missense	SNP	0.596	T	T	10978463	G	T	10978463	3	4	140	1	0	0	0	0	1	0	0	0	10268	1087	38	3	154	3	NDUFA4	7	10978463	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09		10978463	148160200	19	10500											
CUX1	1523	genome.wustl.edu	37	chr7	101801856	101801856	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagggccgacgagattgaaAtgatcatgacggaccttgaa	12	8	1	5			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr7:101801856A>T	ENST00000292535.7	+	9	729	c.691A>T	c.(691-693)Atg>Ttg	p.M231L	CUX1_ENST00000550008.2_Missense_Mutation_p.M231L|CUX1_ENST00000425244.2_Missense_Mutation_p.M196L|CUX1_ENST00000556210.1_Missense_Mutation_p.M231L|CUX1_ENST00000546411.2_Missense_Mutation_p.M231L|CUX1_ENST00000547394.2_Missense_Mutation_p.M226L|CUX1_ENST00000292538.4_Missense_Mutation_p.M242L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Missense_Mutation_p.M205L|CUX1_ENST00000437600.4_Missense_Mutation_p.M242L|CUX1_ENST00000360264.3_Missense_Mutation_p.M242L|CUX1_ENST00000549414.2_Missense_Mutation_p.M231L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	231					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGAGATTGAAATGATCATGAC	0.552																																																	0								ENSG00000257923						92	83	86					7																	101801856		2203	4300	6503	CUX1	SO:0001583	missense	0			-	HGNC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.691A>T	7.37:g.101801856A>T	ENSP00000292535:p.Met231Leu	Somatic	0	57	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	24	50.00	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	26	0	0	43	31.75	20	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.M242L	ENST00000292535.7	37	c.724	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406481	0.25378	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.76316	1.22;1.22;1.22;2.44;1.06;1.22;-1.01;1.22;1.22;1.22	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	N	0.13235	0.315	0.43250	D	0.995177	P;B;B;B;B;B;B	0.40660	0.726;0.167;0.296;0.052;0.095;0.156;0.257	B;B;B;B;B;B;P	0.47786	0.191;0.354;0.046;0.058;0.015;0.041;0.557	T	0.64546	-0.6382	10	0.05620	T	0.96	-40.0631	12.6554	0.56784	1.0:0.0:0.0:0.0	.	205;231;196;226;242;242;242	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	L	242;226;242;196;242;231;231;231;231;231	ENSP00000292538:M242L;ENSP00000449371:M226L;ENSP00000353401:M242L;ENSP00000409745:M196L;ENSP00000414091:M242L;ENSP00000292535:M231L;ENSP00000446630:M231L;ENSP00000447373:M231L;ENSP00000450125:M231L;ENSP00000451558:M231L	ENSP00000292535:M231L	M	+	1	0	CUX1	101588576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.940000	0.70187	2.010000	0.58986	0.460000	0.39030	ATG	-	NULL		0.552	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	protein_coding	OTTHUMT00000347535.1	A	NM_001913	-		101801856	1	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101801856	A	T	101801856	3	4	140	1	0	0	0	0	1	0	0	0	4066	101	4	5	792	5	CUX1	7	101801856	Missense_Mutation	SNP	A	TCGA-FX-A48G-01A-11D-A24N-09	90823393	101801856	57336807	20	10501											
ADAM28	10863	genome.wustl.edu	37	chr8	24168921	24168921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatgaaaaggtttctgaCgctagcatcagcacatgtag	9	8	2	2	rs144018592		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr8:24168921C>T	ENST00000265769.4	+	5	464	c.354C>T	c.(352-354)gaC>gaT	p.D118D	ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.D118D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	118					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGGTTTCTGACGCTAGCATCA	0.373																																					NSCLC(193;488 2149 22258 34798 40734)												0								ENSG00000042980	C	,	1,4405	2.1+/-5.4	0,1,2202	123	121	122		354,354	-4.2	0.7	8	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADAM28	NM_014265.4,NM_021777.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	118/776,118/541	24168921	1,13005	2203	4300	6503	ADAM28	SO:0001819	synonymous_variant	0			-	HGNC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.354C>T	8.37:g.24168921C>T		Somatic	0	64	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	35	0	0	55	24.66	18	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D118	ENST00000265769.4	37	c.354	CCDS34865.1	8																																																																																			-	pfam_Peptidase_M12B_N		0.373	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	protein_coding	OTTHUMT00000375441.2	C	NM_021778	rs144018592		24168921	1	no_errors	ENST00000265769	ensembl	human	known	74_37	silent	SNP	0.730	T	T	24168921	C	T	24168921	2	4	140	1	0	0	0	0	0	0	0	1	246	535	19	1		1	ADAM28	8	24168921	Silent	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		24168921	122195101	21	10502											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68188215	68188215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagttaataacttactttgGatctggtggtccatctgaca	8	8	2	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr8:68188215G>A	ENST00000262215.3	-	9	1722	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	445					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTACTTTGGATCTGGTGGT	0.358																																																	0								ENSG00000066777						86	78	81					8																	68188215		2203	4300	6503	ARFGEF1	SO:0001583	missense	0			-	HGNC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1333C>T	8.37:g.68188215G>A	ENSP00000262215:p.Pro445Ser	Somatic	0	58	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	54	12.90	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	37	0	0	66	8.33	6	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.P445S	ENST00000262215.3	37	c.1333	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869703	0.72065	.	.	ENSG00000066777	ENST00000262215	T	0.39997	1.05	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.85945	2.785	0.80722	D	1	B	0.32324	0.364	B	0.41646	0.362	T	0.60296	-0.7291	10	0.44086	T	0.13	.	19.8389	0.96675	0.0:0.0:1.0:0.0	.	445	Q9Y6D6	BIG1_HUMAN	S	445	ENSP00000262215:P445S	ENSP00000262215:P445S	P	-	1	0	ARFGEF1	68350769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.715000	0.98748	2.755000	0.94549	0.650000	0.86243	CCA	-	superfamily_ARM-type_fold		0.358	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	protein_coding	OTTHUMT00000379441.4	G	NM_006421	-		68188215	-1	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68188215	G	A	68188215	3	1	140	1	0	0	0	0	1	0	0	0	852	1174	41	2	4340	2	ARFGEF1	8	68188215	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	44019294	68188215	78175807	22	10503											
E2F5	1875	genome.wustl.edu	37	chr8	86089854	86089854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttcgtgtcgctgctgCaggaggccaaggacggcgtt	15	11	0	0			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr8:86089854C>A	ENST00000416274.2	+	1	233	c.199C>A	c.(199-201)Cag>Aag	p.Q67K	RP11-219B4.7_ENST00000566000.1_RNA|RP11-219B4.7_ENST00000562577.1_RNA|RP11-219B4.3_ENST00000520129.1_RNA|E2F5_ENST00000256117.5_Missense_Mutation_p.Q67K|E2F5_ENST00000418930.2_Missense_Mutation_p.Q67K|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	67					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCGCTGCTGCAGGAGGCCAA	0.736																																																	0								ENSG00000133740						14	16	15					8																	86089854		2187	4299	6486	E2F5	SO:0001583	missense	0			-	HGNC	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.199C>A	8.37:g.86089854C>A	ENSP00000398124:p.Gln67Lys	Somatic	0	30	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	21	0	0	57	0.00	0	pfam_E2F_TDP	p.Q67K	ENST00000416274.2	37	c.199	CCDS47885.1	8	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199565	0.58126	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274	T;T;T	0.05580	3.43;3.42;3.43	3.65	2.74	0.32292	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.160657	0.43110	U	0.000620	T	0.04588	0.0125	N	0.05259	-0.085	0.80722	D	1	P;P	0.50272	0.933;0.78	P;B	0.49477	0.612;0.431	T	0.56860	-0.7909	10	0.23302	T	0.38	-7.454	10.2563	0.43399	0.0:0.8958:0.0:0.1042	.	67;67	Q15329-2;Q15329	.;E2F5_HUMAN	K	67	ENSP00000414312:Q67K;ENSP00000256117:Q67K;ENSP00000398124:Q67K	ENSP00000256117:Q67K	Q	+	1	0	E2F5	86277106	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	4.854000	0.62918	1.850000	0.53721	0.462000	0.41574	CAG	-	pfam_E2F_TDP		0.736	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	protein_coding	OTTHUMT00000380274.1	C	NM_001951	-		86089854	1	no_errors	ENST00000256117	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86089854	C	A	86089854	3	1	140	1	0	0	0	0	1	0	0	0	4872	711	25	3	201	3	E2F5	8	86089854	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	17901639	86089854	60274168	23	10504											
KIAA1429	25962	genome.wustl.edu	37	chr8	95547168	95547168	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgacttatcactctatccActgatccatatattgccagt	4	12	2	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr8:95547168A>T	ENST00000297591.5	-	5	458	c.383T>A	c.(382-384)gTg>gAg	p.V128E	KIAA1429_ENST00000421249.2_Missense_Mutation_p.V128E|KIAA1429_ENST00000437199.1_Missense_Mutation_p.V128E|RP11-267M23.3_ENST00000521010.1_RNA	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	128					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACTCTATCCACTGATCCATA	0.463																																																	0								ENSG00000164944						129	113	119					8																	95547168		2203	4300	6503	KIAA1429	SO:0001583	missense	0			-	HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.383T>A	8.37:g.95547168A>T	ENSP00000297591:p.Val128Glu	Somatic	0	32	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	30	33.33	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	21	0	0	29	32.56	14	superfamily_ARM-type_fold	p.V128E	ENST00000297591.5	37	c.383	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472696	0.84640	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.44482	0.93;0.92;0.92	5.35	5.35	0.76521	.	0.124113	0.53938	D	0.000048	T	0.48241	0.1489	N	0.14661	0.345	0.52099	D	0.999942	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.56774	-0.7923	10	0.87932	D	0	-12.9387	15.6297	0.76893	1.0:0.0:0.0:0.0	.	128;128	Q69YN4-4;Q69YN4	.;VIR_HUMAN	E	128	ENSP00000297591:V128E;ENSP00000395600:V128E;ENSP00000398390:V128E	ENSP00000297591:V128E	V	-	2	0	KIAA1429	95616344	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.124000	0.77185	2.144000	0.66660	0.482000	0.46254	GTG	-	NULL		0.463	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	A	NM_015496	-		95547168	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95547168	A	T	95547168	3	4	140	1	0	0	0	0	1	0	0	0	8233	159	6	5	5189	5	KIAA1429	8	95547168	Missense_Mutation	SNP	A	TCGA-FX-A48G-01A-11D-A24N-09	9457314	95547168	50816854	24	10505											
ACTA2	59	genome.wustl.edu	37	chr10	90701022	90701025	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													atagccacgctcagtcaggaTcttcatgaggtagtcagtga							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	TCTT	TCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr10:90701022_90701025delTCTT	ENST00000458208.1	-	6	1051_1054	c.577_580delAAGA	c.(577-582)aagatcfs	p.KI193fs	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Frame_Shift_Del_p.KI193fs|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	193					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)			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)		TCAGTCAGGATCTTCATGAGGTAG	0.549																																																	0								ENSG00000107796																																			ACTA2	SO:0001589	frameshift_variant	0				HGNC	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.577_580delAAGA	10.37:g.90701022_90701025delTCTT	ENSP00000402373:p.Lys193fs	Somatic	0	75	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	10	72.22	B2R8A4|P03996|P04108|Q6FI19	Frame_Shift_Del	DEL	20	0	0	9	72.73	24	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.K193fs	ENST00000458208.1	37	c.580_577	CCDS7392.1	10																																																																																			-	pfam_Actin-related,smart_Actin-related		0.549	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	protein_coding	OTTHUMT00000049264.1	TCTT	NM_001613			90701025	-1	no_errors	ENST00000224784	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	90701025	TCTT	-	90701022	7	5	140	1	0	1	0	1	0	0	0	0	192	1435	50	0	569	0	ACTA2	10	90701022	Frame_Shift_Del	DEL	TCTT	TCGA-FX-A48G-01A-11D-A24N-09		90701022	44833725	25	10506	172	2									
ACTA2	59	genome.wustl.edu	37	chr10	90701026	90701026	+	Missense_Mutation	SNP	C	C	A													ccacgctcagtcaggatcttCatgaggtagtcagtgagatc							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr10:90701026C>A	ENST00000458208.1	-	6	1050	c.576G>T	c.(574-576)atG>atT	p.M192I	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.M192I|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	192					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)			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)		TCAGGATCTTCATGAGGTAGT	0.547																																																	0								ENSG00000107796						138	107	118					10																	90701026		2203	4300	6503	ACTA2	SO:0001583	missense	0			-	HGNC	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.576G>T	10.37:g.90701026C>A	ENSP00000402373:p.Met192Ile	Somatic	0	73	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	9	76.92	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	20	0	0	9	71.43	25	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.M192I	ENST00000458208.1	37	c.576	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	17.69	3.453070	0.63290	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.97352	-4.35;-4.35	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	L	0.49699	1.58	0.80722	D	1	B	0.12630	0.006	B	0.26770	0.073	D	0.92733	0.6201	10	0.87932	D	0	.	18.7419	0.91777	0.0:1.0:0.0:0.0	.	192	P62736	ACTA_HUMAN	I	192;192;147	ENSP00000224784:M192I;ENSP00000402373:M192I	ENSP00000224784:M192I	M	-	3	0	ACTA2	90691006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.762000	0.94881	0.655000	0.94253	ATG	-	pfam_Actin-related,smart_Actin-related		0.547	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	protein_coding	OTTHUMT00000049264.1	C	NM_001613	-		90701026	-1	no_errors	ENST00000224784	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90701026	C	A	90701026	3	1	140	1	0	0	0	0	1	0	0	0	192	826	29	3	573	3	ACTA2	10	90701026	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	4	90701026	44833721	26	10507	172	2									
MUC2	4583	genome.wustl.edu	37	chr11	1098687	1098687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccccgcagcactactacGatgcctgcgtgttcgacagc	10	16	0	0			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr11:1098687G>A	ENST00000441003.2	+	37	7084	c.7057G>A	c.(7057-7059)Gat>Aat	p.D2353N	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4715					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCACTACTACGATGCCTGCGT	0.647																																																	0								ENSG00000198788						23	28	27					11																	1098687		2117	4234	6351	MUC2	SO:0001583	missense	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7057G>A	11.37:g.1098687G>A	ENSP00000415183:p.Asp2353Asn	Somatic	0	112	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	10	84.38	Q14878	Missense_Mutation	SNP	29	0	0	5	84.85	28	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.D2353N	ENST00000441003.2	37	c.7057		11	.	.	.	.	.	.	.	.	.	.	G	6.821	0.520618	0.13005	.	.	ENSG00000198788	ENST00000441003	T	0.77098	-1.07	4.09	4.09	0.47781	.	.	.	.	.	T	0.71451	0.3341	L	0.56124	1.755	0.09310	N	1	P	0.48407	0.91	B	0.40477	0.33	T	0.61496	-0.7051	9	0.23302	T	0.38	.	12.2354	0.54512	0.0:0.1719:0.8281:0.0	.	2353	E7EUV1	.	N	2353	ENSP00000415183:D2353N	ENSP00000415183:D2353N	D	+	1	0	MUC2	1088687	0.001000	0.12720	0.855000	0.33649	0.347000	0.29111	0.632000	0.24583	1.821000	0.53095	0.561000	0.74099	GAT	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1098687	1	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	SNP	0.118	A	A	1098687	G	A	1098687	3	1	140	1	0	0	0	0	1	0	0	0	9977	1058	37	1	7195	1	MUC2	11	1098687	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09		1098687	133907829	27	10508											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159001	18159001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacattatatgttcgccGttacgcctcatcaatatccg	7	13	2	0	rs148328055	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr11:18159001G>A	ENST00000396275.2	+	3	613	c.252G>A	c.(250-252)ccG>ccA	p.P84P		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TATGTTCGCCGTTACGCCTCA	0.542																																																	0								ENSG00000179826	G		0,4400		0,0,2200	103	98	100		252	0.5	0	11	dbSNP_134	100	4,8582	3.0+/-9.4	0,4,4289	no	coding-synonymous	MRGPRX3	NM_054031.3		0,4,6489	AA,AG,GG		0.0466,0.0,0.0308		84/323	18159001	4,12982	2200	4293	6493	MRGPRX3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.252G>A	11.37:g.18159001G>A		Somatic	0	57	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	12	67.57	B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	34	0	0	6	77.42	24	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P84	ENST00000396275.2	37	c.252	CCDS7830.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	G	NM_054031	rs148328055		18159001	1	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	SNP	0.000	A	A	18159001	G	A	18159001	2	1	140	1	0	0	0	0	0	0	0	1	9770	1132	40	1		1	MRGPRX3	11	18159001	Silent	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	17060314	18159001	116847515	28	10509											
HSD17B12	51144	genome.wustl.edu	37	chr11	43819959	43819959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaaacaggcttggctggtCttgaaatcggcatcttaggt	11	7	2	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr11:43819959C>T	ENST00000278353.4	+	4	492	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	125					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						CTTGGCTGGTCTTGAAATCGG	0.318																																					Ovarian(58;548 1143 13948 16572 34258)												0								ENSG00000149084						95	99	98					11																	43819959		2203	4300	6503	HSD17B12	SO:0001583	missense	0			-	HGNC	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.373C>T	11.37:g.43819959C>T	ENSP00000278353:p.Leu125Phe	Somatic	0	47	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	42	0	0	47	37.33	28	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L125F	ENST00000278353.4	37	c.373	CCDS7905.1	11	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848206	0.71603	.	.	ENSG00000149084	ENST00000531185;ENST00000278353	D;D	0.93019	-3.15;-2.27	5.09	5.09	0.68999	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96210	0.9152	10	0.72032	D	0.01	-13.1904	15.4364	0.75149	0.0:1.0:0.0:0.0	.	125	Q53GQ0	DHB12_HUMAN	F	84;125	ENSP00000436582:L84F;ENSP00000278353:L125F	ENSP00000278353:L125F	L	+	1	0	HSD17B12	43776535	1.000000	0.71417	0.933000	0.37362	0.824000	0.46624	3.433000	0.52834	2.360000	0.80028	0.655000	0.94253	CTT	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR		0.318	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	protein_coding	OTTHUMT00000389594.1	C		-		43819959	1	no_errors	ENST00000278353	ensembl	human	known	74_37	missense	SNP	0.999	T	T	43819959	C	T	43819959	3	4	140	1	0	0	0	0	1	0	0	0	7383	913	32	2	387	2	HSD17B12	11	43819959	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	25660958	43819959	91186557	29	10510											
HSPA8	3312	genome.wustl.edu	37	chr11	122930678	122930678	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcctcaatagtgaggattGacacatcaaaagtgccacct	7	11	2	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr11:122930678G>A	ENST00000532636.1	-	5	742	c.623C>T	c.(622-624)tCa>tTa	p.S208L	HSPA8_ENST00000534319.1_5'UTR|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.S208L|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.S208L|HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.S208L|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.S189L			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	208	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGTGAGGATTGACACATCAAA	0.428																																					Colon(21;486 594 5900 6733 14272)												0								ENSG00000109971						39	40	40					11																	122930678		2202	4299	6501	HSPA8	SO:0001583	missense	0			-	HGNC	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.623C>T	11.37:g.122930678G>A	ENSP00000437125:p.Ser208Leu	Somatic	0	23	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q9H3R6	Missense_Mutation	SNP	35	0	0	79	0.00	0	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.S208L	ENST00000532636.1	37	c.623	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.103612	0.94245	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525463	T;T;T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26;4.26;4.26	4.51	4.51	0.55191	Heat shock protein 70, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.39682	0.1087	H	0.99994	5.395	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;0.993	D;D;D;D	0.91635	0.962;0.999;0.998;0.962	T	0.74937	-0.3494	10	0.87932	D	0	-13.3314	17.5407	0.87846	0.0:0.0:1.0:0.0	.	208;208;208;208	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	L	208;208;208;208;189;148;167	ENSP00000437125:S208L;ENSP00000432083:S208L;ENSP00000404372:S208L;ENSP00000227378:S208L;ENSP00000433584:S189L;ENSP00000432884:S148L;ENSP00000436762:S167L	ENSP00000227378:S208L	S	-	2	0	HSPA8	122435888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.786000	0.99046	2.181000	0.69327	0.561000	0.74099	TCA	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam		0.428	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	protein_coding	OTTHUMT00000387515.1	G		-		122930678	-1	no_errors	ENST00000534624	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122930678	G	A	122930678	3	1	140	1	0	0	0	0	1	0	0	0	7418	1294	45	2	1337	2	HSPA8	11	122930678	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	79110719	122930678	12075838	30	10511											
OR10S1	219873	genome.wustl.edu	37	chr11	123847411	123847411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatagcacagactatggggGtgggctgcctgctgtagact	15	8	0	3			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr11:123847411G>T	ENST00000531945.1	-	1	1077	c.988C>A	c.(988-990)Ccc>Acc	p.P330T		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACTATGGGGGTGGGCTGCCT	0.468																																																	0								ENSG00000196248						47	45	45					11																	123847411		2202	4299	6501	OR10S1	SO:0001583	missense	0			-	HGNC	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"GPCR / Class A : Olfactory receptors"	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.988C>A	11.37:g.123847411G>T	ENSP00000431914:p.Pro330Thr	Somatic	0	16	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	26	0	0	41	48.75	39	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P330T	ENST00000531945.1	37	c.988	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325578	0.24080	.	.	ENSG00000196248	ENST00000531945	T	0.00036	8.86	4.82	0.233	0.15386	.	.	.	.	.	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.14755	-1.0461	9	0.72032	D	0.01	-5.7104	7.9196	0.29837	0.1736:0.5637:0.2626:0.0	.	330	Q8NGN2	O10S1_HUMAN	T	330	ENSP00000431914:P330T	ENSP00000431914:P330T	P	-	1	0	OR10S1	123352621	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.551000	0.02178	-0.137000	0.11455	-0.222000	0.12452	CCC	-	NULL		0.468	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	protein_coding	OTTHUMT00000387265.2	G	NM_001004474	-		123847411	-1	no_errors	ENST00000531945	ensembl	human	known	74_37	missense	SNP	0.014	T	T	123847411	G	T	123847411	3	4	140	1	0	0	0	0	1	0	0	0	10920	1261	44	3	11	3	OR10S1	11	123847411	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	916733	123847411	11159105	31	10512											
GLI1	2735	genome.wustl.edu	37	chr12	57864284	57864284	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttatgcctgcccagcactaCctgcttcgggcaagatatgc	9	14	0	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr12:57864284C>A	ENST00000228682.2	+	12	1852	c.1761C>A	c.(1759-1761)taC>taA	p.Y587*	GLI1_ENST00000546141.1_Nonsense_Mutation_p.Y546*|GLI1_ENST00000543426.1_Nonsense_Mutation_p.Y459*	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	587					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCAGCACTACCTGCTTCGGG	0.627																																					Pancreas(157;841 1936 10503 41495 50368)												0								ENSG00000111087						64	55	58					12																	57864284		2203	4300	6503	GLI1	SO:0001587	stop_gained	0			-	HGNC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1761C>A	12.37:g.57864284C>A	ENSP00000228682:p.Tyr587*	Somatic	0	60	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Nonsense_Mutation	SNP	25	0	0	32	45.76	27	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y587*	ENST00000228682.2	37	c.1761	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947592	0.92593	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	.	.	.	3.86	2.97	0.34412	.	0.000000	0.41823	D	0.000805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7525	0.28904	0.0:0.7988:0.0:0.2011	.	.	.	.	X	459;587;546;546	.	ENSP00000228682:Y587X	Y	+	3	2	GLI1	56150551	0.995000	0.38212	1.000000	0.80357	0.912000	0.54170	1.834000	0.39171	1.198000	0.43158	0.491000	0.48974	TAC	-	NULL		0.627	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	protein_coding	OTTHUMT00000394197.1	C	NM_005269	-		57864284	1	no_errors	ENST00000228682	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	57864284	C	A	57864284	4	1	140	1	0	0	0	0	0	1	0	0	6439	518	18	3	1803	3	GLI1	12	57864284	Nonsense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		57864284	75987611	32	10513											
GATC	51499	genome.wustl.edu	37	chr12	120884315	120884324	+	5'Flank	DEL	GGGCCCCTCT	GGGCCCCTCT	-													gttggtgtggctgggccttcGggcccctctgggcgggcgcc							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	GGGCCCCTCT	GGGCCCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr12:120884315_120884324delGGGCCCCTCT	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_Frame_Shift_Del_p.RAPL11fs|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGCCTTCGGGCCCCTCTGGGCGGGCGC	0.69																																																	0								ENSG00000257218																																			GATC	SO:0001631	upstream_gene_variant	0				HGNC		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884315_120884324delGGGCCCCTCT	Exception_encountered	Somatic									WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R4Z7|Q5RKS5|Q6LCA7	Frame_Shift_Del	DEL	19	0	0	62	0.00	0	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.P13fs	ENST00000546954.1	37	c.32_41	CCDS9198.1	12																																																																																			-	NULL		0.69	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	protein_coding	OTTHUMT00000108980.3	GGGCCCCTCT	NM_016399			120884324	1	no_errors	ENST00000551765	ensembl	human	known	74_37	frame_shift_del	DEL	0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-	-	120884324	GGGCCCCTCT	-	120884315	6	5	140	0	1	1	0	1	0	0	0	0	6264	1116	39	0		0	GATC	12	120884315	5'Flank	DEL	GGGCCCCTCT	TCGA-FX-A48G-01A-11D-A24N-09	63020031	120884315	12967580	33	10514	173	3									
GATC	51499	genome.wustl.edu	37	chr12	120884319	120884319	+	5'Flank	SNP	C	C	G													gtgtggctgggccttcgggcCcctctgggcgggcgccaggg							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr12:120884319C>G	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_Silent_p.A12A|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTTCGGGCCCCTCTGGGCG	0.687																																																	0								ENSG00000257218						50	56	54					12																	120884319		2203	4298	6501	GATC	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884319C>G	Exception_encountered	Somatic	0	110	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	62	24.39	B2R4Z7|Q5RKS5|Q6LCA7	Silent	SNP	21	0	0	42	31.15	19	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.A12	ENST00000546954.1	37	c.36	CCDS9198.1	12																																																																																			-	NULL		0.687	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	protein_coding	OTTHUMT00000108980.3	C	NM_016399	-		120884319	1	no_errors	ENST00000551765	ensembl	human	known	74_37	silent	SNP	0.000	G	G	120884319	C	G	120884319	1	3	140	0	1	0	0	0	0	0	0	0	6264	610	22	4		4	GATC	12	120884319	5'Flank	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	4	120884319	12967576	34	10515	173	3									
GATC	51499	genome.wustl.edu	37	chr12	120884322	120884331	+	5'Flank	DEL	TCTGGGCGGG	TCTGGGCGGG	-													tggctgggccttcgggccccTctgggcgggcgccagggctt					rs2235217|rs199833922|rs368556877	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	TCTGGGCGGG	TCTGGGCGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr12:120884322_120884331delTCTGGGCGGG	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_Frame_Shift_Del_p.PLGG13fs|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCGGGCCCCTCTGGGCGGGCGCCAGGGCT	0.7																																																	0								ENSG00000257218																																			GATC	SO:0001631	upstream_gene_variant	0				HGNC		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884322_120884331delTCTGGGCGGG	Exception_encountered	Somatic									WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R4Z7|Q5RKS5|Q6LCA7	Frame_Shift_Del	DEL	20	0	0	44	27.87	17	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.L14fs	ENST00000546954.1	37	c.39_48	CCDS9198.1	12																																																																																			-	NULL		0.7	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	protein_coding	OTTHUMT00000108980.3	TCTGGGCGGG	NM_016399			120884331	1	no_errors	ENST00000551765	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000	-	-	120884331	TCTGGGCGGG	-	120884322	6	5	140	0	1	1	0	1	0	0	0	0	6264	1538	54	0		0	GATC	12	120884322	5'Flank	DEL	TCTGGGCGGG	TCGA-FX-A48G-01A-11D-A24N-09	3	120884322	12967573	35	10516	173	3									
KNTC1	9735	genome.wustl.edu	37	chr12	123070191	123070191	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcacctaggcttctttTgggacacataaagatccata	8	9	1	1	rs546067080	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr12:123070191T>C	ENST00000333479.7	+	37	3720	c.3543T>C	c.(3541-3543)ttT>ttC	p.F1181F	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1181					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGGCTTCTTTTGGGACACATA	0.383													T|||	3	0.000599042	0	0	5008	,	,		20512	0		0	False		,,,				2504	0.0031																0								ENSG00000184445						147	135	138					12																	123070191		1864	4105	5969	KNTC1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3543T>C	12.37:g.123070191T>C		Somatic	0	92	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	56	38.46	A7E2C4|B3KSG2	Silent	SNP	24	4	1	44	49.43	43	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.F1181	ENST00000333479.7	37	c.3543	CCDS45002.1	12																																																																																			-	NULL		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	protein_coding	OTTHUMT00000396110.2	T		-		123070191	1	no_errors	ENST00000333479	ensembl	human	known	74_37	silent	SNP	0.989	C	C	123070191	T	C	123070191	2	2	140	1	0	0	0	0	0	0	0	1	8430	1809	63	5		5	KNTC1	12	123070191	Silent	SNP	T	TCGA-FX-A48G-01A-11D-A24N-09	2185869	123070191	10781704	36	10517											
UCHL3	7347	genome.wustl.edu	37	chr13	76178919	76178919	+	Frame_Shift_Del	DEL	T	T	-													ccacagatgggcggaagccaTttccaattaaccatggtgaa							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr13:76178919delT	ENST00000377595.3	+	8	595	c.565delT	c.(565-567)tttfs	p.F189fs	RP11-173B14.5_ENST00000568302.1_RNA|RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR|RP11-173B14.5_ENST00000568735.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	189					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GCGGAAGCCATTTCCAATTAA	0.373																																																	0								ENSG00000118939						124	123	124					13																	76178919		2203	4300	6503	UCHL3	SO:0001589	frameshift_variant	0				HGNC	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.565delT	13.37:g.76178919delT	ENSP00000366819:p.Phe189fs	Somatic	0	30	0		0.693536108497017				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	B2R970|Q5TBK8|Q6IBE9	Frame_Shift_Del	DEL	38	0	0	38	0.00	0	pfam_Peptidase_C12,prints_Peptidase_C12	p.P190fs	ENST00000377595.3	37	c.565	CCDS9453.1	13																																																																																			-	pfam_Peptidase_C12,prints_Peptidase_C12		0.373	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL3	protein_coding	OTTHUMT00000045292.2	T	NM_006002			76178919	1	no_errors	ENST00000377595	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	76178919	T	-	76178919	7	5	140	1	0	1	0	1	0	0	0	0	16928	1493	52	0	595	0	UCHL3	13	76178919	Frame_Shift_Del	DEL	T	TCGA-FX-A48G-01A-11D-A24N-09		76178919	38990959	37	10518											
WDHD1	11169	genome.wustl.edu	37	chr14	55493472	55493472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgtgtccctctgtatGcccatatctcattggcttcc	7	15	2	0			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr14:55493472G>T	ENST00000360586.3	-	2	99	c.34C>A	c.(34-36)Cat>Aat	p.H12N	SOCS4_ENST00000339298.2_5'Flank|WDHD1_ENST00000421192.1_5'UTR|SOCS4_ENST00000555846.1_5'Flank|SOCS4_ENST00000395472.2_5'Flank|WDHD1_ENST00000420358.2_Intron	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	12					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCCTCTGTATGCCCATATCTC	0.378																																																	0								ENSG00000198554						170	166	167					14																	55493472		2203	4300	6503	WDHD1	SO:0001583	missense	0			-	HGNC	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.34C>A	14.37:g.55493472G>T	ENSP00000353793:p.His12Asn	Somatic	0	77	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	C9JW18|F6W0U7	Missense_Mutation	SNP	36	0	0	56	0.00	0	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H12N	ENST00000360586.3	37	c.34	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973125	0.53614	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;T	0.81078	-1.45;-1.45	5.41	5.41	0.78517	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	0.90563	0.7042	M	0.91663	3.23	0.80722	D	1	D	0.59767	0.986	P	0.60173	0.87	D	0.92556	0.6054	10	0.87932	D	0	.	15.915	0.79508	0.0:0.0:1.0:0.0	.	12	O75717	WDHD1_HUMAN	N	12	ENSP00000353793:H12N;ENSP00000413435:H12N	ENSP00000353793:H12N	H	-	1	0	WDHD1	54563222	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.320000	0.72876	2.533000	0.85409	0.467000	0.42956	CAT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.378	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	protein_coding	OTTHUMT00000276897.2	G	NM_007086	-		55493472	-1	no_errors	ENST00000360586	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55493472	G	T	55493472	3	4	140	1	0	0	0	0	1	0	0	0	17278	1319	46	3	3455	3	WDHD1	14	55493472	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09		55493472	51856068	38	10519											
TTBK2	146057	genome.wustl.edu	37	chr15	43044957	43044957	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttggcaccacactaaaagtCtgtgtttttgtcacatcaag	7	9	3	0			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr15:43044957C>T	ENST00000267890.6	-	14	2595	c.2487G>A	c.(2485-2487)caG>caA	p.Q829Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	829					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q829H(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CACTAAAAGTCTGTGTTTTTG	0.403																																																	1	Substitution - Missense(1)	cervix(1)						ENSG00000128881						114	102	106					15																	43044957		1851	4096	5947	TTBK2	SO:0001819	synonymous_variant	0			-	HGNC	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2487G>A	15.37:g.43044957C>T		Somatic	0	46	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	25	53.70	O94932|Q6ZN52|Q8IVV1	Silent	SNP	34	0	0	41	48.15	39	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q829	ENST00000267890.6	37	c.2487	CCDS42029.1	15																																																																																			-	NULL		0.403	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	protein_coding	OTTHUMT00000431106.2	C	NM_173500	-		43044957	-1	no_errors	ENST00000267890	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43044957	C	T	43044957	2	4	140	1	0	0	0	0	0	0	0	1	16684	912	32	2		2	TTBK2	15	43044957	Silent	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		43044957	59486435	39	10520											
TTBK2	146057	genome.wustl.edu	37	chr15	43045133	43045133	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtttccccagggagattttCaaattctctcacaaccagtc	6	12	3	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr15:43045133C>G	ENST00000267890.6	-	14	2419	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	771					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGGAGATTTTCAAATTCTCTC	0.393																																																	0								ENSG00000128881						189	174	179					15																	43045133		1837	4080	5917	TTBK2	SO:0001583	missense	0			-	HGNC	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2311G>C	15.37:g.43045133C>G	ENSP00000267890:p.Glu771Gln	Somatic	0	62	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	42	42.47	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	40	0	0	48	43.53	37	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E771Q	ENST00000267890.6	37	c.2311	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108624	0.37242	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.42131	0.98	5.73	5.73	0.89815	.	0.488040	0.22850	N	0.054864	T	0.47173	0.1431	L	0.56769	1.78	0.80722	D	1	B;B	0.30361	0.277;0.181	B;B	0.34779	0.189;0.092	T	0.45440	-0.9261	10	0.62326	D	0.03	.	18.0859	0.89457	0.0:1.0:0.0:0.0	.	702;771	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	Q	771;701;1176	ENSP00000267890:E771Q	ENSP00000263802:E1176Q	E	-	1	0	TTBK2	40832425	1.000000	0.71417	0.955000	0.39395	0.555000	0.35460	3.435000	0.52849	2.698000	0.92095	0.655000	0.94253	GAA	-	NULL		0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	protein_coding	OTTHUMT00000431106.2	C	NM_173500	-		43045133	-1	no_errors	ENST00000267890	ensembl	human	known	74_37	missense	SNP	0.997	G	G	43045133	C	G	43045133	3	3	140	1	0	0	0	0	1	0	0	0	16684	835	29	4	1431	4	TTBK2	15	43045133	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	176	43045133	59486259	40	10521											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77325184	77325184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccacggcaatgaataCcatccagctaccatgttgta	8	12	0	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr16:77325184C>A	ENST00000282849.5	-	21	3799	c.3381G>T	c.(3379-3381)tgG>tgT	p.W1127C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1127	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAATGAATACCATCCAGCTA	0.493																																																	0								ENSG00000140873						104	96	99					16																	77325184		2198	4300	6498	ADAMTS18	SO:0001583	missense	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3381G>T	16.37:g.77325184C>A	ENSP00000282849:p.Trp1127Cys	Somatic	0	72	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	29	0	0	20	45.95	17	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.W1127C	ENST00000282849.5	37	c.3381	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869767	0.72065	.	.	ENSG00000140873	ENST00000282849	T	0.69435	-0.4	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94729	0.7908	10	0.87932	D	0	.	18.5635	0.91110	0.0:1.0:0.0:0.0	.	1127	Q8TE60	ATS18_HUMAN	C	1127	ENSP00000282849:W1127C	ENSP00000282849:W1127C	W	-	3	0	ADAMTS18	75882685	1.000000	0.71417	0.997000	0.53966	0.525000	0.34531	6.797000	0.75150	2.641000	0.89580	0.563000	0.77884	TGG	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.493	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	C		-		77325184	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77325184	C	A	77325184	3	1	140	1	0	0	0	0	1	0	0	0	263	508	18	3	296	3	ADAMTS18	16	77325184	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		77325184	13029569	41	10522											
CDH15	1013	genome.wustl.edu	37	chr16	89249976	89249976	+	Frame_Shift_Del	DEL	C	C	-													ctaagagcgtttgccctggaCctgggaggatccaccctgga							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr16:89249976delC	ENST00000289746.2	+	4	443	c.378delC	c.(376-378)gacfs	p.D126fs	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TTGCCCTGGACCTGGGAGGAT	0.582																																																	0								ENSG00000129910						81	78	79					16																	89249976		2198	4300	6498	CDH15	SO:0001589	frameshift_variant	0				HGNC	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.378delC	16.37:g.89249976delC	ENSP00000289746:p.Asp126fs	Somatic	0	78	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53		Frame_Shift_Del	DEL	40	0	0	35	0.00	0	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L127fs	ENST00000289746.2	37	c.378	CCDS10976.1	16																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.582	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	protein_coding	OTTHUMT00000269920.1	C	NM_004933			89249976	1	no_errors	ENST00000289746	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	89249976	C	-	89249976	7	5	140	1	0	1	0	1	0	0	0	0	3102	506	18	0	392	0	CDH15	16	89249976	Frame_Shift_Del	DEL	C	TCGA-FX-A48G-01A-11D-A24N-09	11924792	89249976	1104777	42	10523											
HNF1B	6928	genome.wustl.edu	37	chr17	36091772	36091772	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgaccaagttggagcCcaggccgtgggctttggagg	16	10	1	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr17:36091772C>G	ENST00000225893.4	-	4	1220	c.859G>C	c.(859-861)Ggc>Cgc	p.G287R	HNF1B_ENST00000561193.1_Missense_Mutation_p.G261R|HNF1B_ENST00000427275.2_Missense_Mutation_p.G261R|HNF1B_ENST00000560016.1_Missense_Mutation_p.G287R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	287					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|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)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAGTTGGAGCCCAGGCCGTGG	0.612																																					Colon(71;102 1179 9001 27917 43397)												0								ENSG00000108753						109	99	102					17																	36091772		2203	4300	6503	HNF1B	SO:0001583	missense	0			-	HGNC	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.859G>C	17.37:g.36091772C>G	ENSP00000225893:p.Gly287Arg	Somatic	0	34	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	15	57.14	B4DKM3|E0YMJ9	Missense_Mutation	SNP	28	0	0	24	53.85	28	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G287R	ENST00000225893.4	37	c.859	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609582	0.87258	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.95690	-3.78;-3.78	5.56	4.59	0.56863	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.090718	0.85682	D	0.000000	D	0.97247	0.9100	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	D	0.97750	1.0214	10	0.72032	D	0.01	-23.5242	13.6975	0.62589	0.0:0.9266:0.0:0.0734	.	261;287;287	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	R	287;261;287;175	ENSP00000225893:G287R;ENSP00000412212:G261R	ENSP00000225893:G287R	G	-	1	0	HNF1B	33165885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	1.591000	0.50007	0.655000	0.94253	GGC	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.612	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	protein_coding	OTTHUMT00000256807.3	C	NM_000458	-		36091772	-1	no_errors	ENST00000225893	ensembl	human	known	74_37	missense	SNP	1.000	G	G	36091772	C	G	36091772	3	3	140	1	0	0	0	0	1	0	0	0	7254	623	22	4	838	4	HNF1B	17	36091772	Missense_Mutation	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		36091772	45103438	43	10524											
DNAH17	8632	genome.wustl.edu	37	chr17	76446859	76446859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgacgcagccgacagacGggccaggagcgaatcttcca	12	16	1	1	rs568734889		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr17:76446859G>A	ENST00000585328.1	-	67	10913	c.10789C>T	c.(10789-10791)Cgt>Tgt	p.R3597C	DNAH17_ENST00000389840.5_Missense_Mutation_p.R3588C|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3588	AAA 5. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCGACAGACGGGCCAGGAGC	0.547													G|||	1	0.000199681	0	0	5008	,	,		20656	0		0.001	False		,,,				2504	0																0								ENSG00000187775						79	80	80					17																	76446859		2203	4300	6503	DNAH17	SO:0001583	missense	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10789C>T	17.37:g.76446859G>A	ENSP00000465516:p.Arg3597Cys	Somatic	0	62	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	34	0	0	36	46.27	31	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.R3588C	ENST00000585328.1	37	c.10762		17	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366234	0.82463	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.34072	1.38	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000005	T	0.61350	0.2340	M	0.91300	3.195	0.80722	D	1	D	0.58268	0.982	P	0.54889	0.763	T	0.71104	-0.4689	10	0.66056	D	0.02	.	14.7803	0.69760	0.0:0.0:0.8551:0.1449	.	3597	E7EUM8	.	C	3597;3588	ENSP00000374490:R3588C	ENSP00000300671:R3597C	R	-	1	0	DNAH17	73958454	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.571000	0.60879	2.494000	0.84150	0.650000	0.86243	CGT	-	superfamily_P-loop_NTPase		0.547	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	G	NM_173628	-		76446859	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76446859	G	A	76446859	3	1	140	1	0	0	0	0	1	0	0	0	4603	1116	39	1	2644	1	DNAH17	17	76446859	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	40355087	76446859	4748351	44	10525											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.693536108497017				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL	19	17.39	4	19	24.00	6	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	140	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-FX-A48G-01A-11D-A24N-09		41173893	17955090	45	10526											
SLC8A2	6543	genome.wustl.edu	37	chr19	47969326	47969326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgctggtctcaccgttgGccttggtgatggtgatctcc	12	13	2	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr19:47969326G>T	ENST00000236877.6	-	2	730	c.335C>A	c.(334-336)gCc>gAc	p.A112D	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	112					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCACCGTTGGCCTTGGTGAT	0.577																																																	0								ENSG00000118160						137	85	103					19																	47969326		2203	4300	6503	SLC8A2	SO:0001583	missense	0			-	HGNC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.335C>A	19.37:g.47969326G>T	ENSP00000236877:p.Ala112Asp	Somatic	0	54	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B4DYQ9	Missense_Mutation	SNP	28	0	0	37	2.63	1	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.A112D	ENST00000236877.6	37	c.335	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824746	0.71143	.	.	ENSG00000118160	ENST00000236877	T	0.32753	1.44	4.25	3.15	0.36227	Sodium/calcium exchanger membrane region (1);	0.203981	0.41396	D	0.000887	T	0.26011	0.0634	N	0.10874	0.06	0.80722	D	1	P	0.51537	0.946	P	0.51550	0.673	T	0.27020	-1.0086	10	0.87932	D	0	.	14.1259	0.65219	0.0:0.1656:0.8344:0.0	.	112	Q9UPR5	NAC2_HUMAN	D	112	ENSP00000236877:A112D	ENSP00000236877:A112D	A	-	2	0	SLC8A2	52661138	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.417000	0.66423	2.210000	0.71456	0.462000	0.41574	GCC	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	protein_coding	OTTHUMT00000466997.1	G		-		47969326	-1	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47969326	G	T	47969326	3	4	140	1	0	0	0	0	1	0	0	0	14715	1203	42	3	2466	3	SLC8A2	19	47969326	Missense_Mutation	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	6795433	47969326	11159657	46	10527											
FOXA2	3170	genome.wustl.edu	37	chr20	22562842	22562842	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgcggcctgctgctgctgCccgggagagggcgccggctc	18	16	0	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr20:22562842C>G	ENST00000377115.4	-	3	1201	c.1020G>C	c.(1018-1020)ggG>ggC	p.G340G	FOXA2_ENST00000419308.2_Silent_p.G346G	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	340					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCTGCTGCTGCCCGGGAGAGG	0.761																																																	0								ENSG00000125798						12	10	11					20																	22562842		1968	3749	5717	FOXA2	SO:0001819	synonymous_variant	0			-	HGNC	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1020G>C	20.37:g.22562842C>G		Somatic	0	8	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	Q8WUW4|Q96DF7	Silent	SNP	28	0	0	21	42.11	16	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G346	ENST00000377115.4	37	c.1038	CCDS13147.1	20																																																																																			-	NULL		0.761	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	protein_coding	OTTHUMT00000078289.1	C		-		22562842	-1	no_errors	ENST00000419308	ensembl	human	known	74_37	silent	SNP	0.997	G	G	22562842	C	G	22562842	2	3	140	1	0	0	0	0	0	0	0	1	5992	726	26	4		4	FOXA2	20	22562842	Silent	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09		22562842	40462678	47	10528											
DLGAP4	22839	genome.wustl.edu	37	chr20	35075162	35075162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcagcctgcagtgaagcGgagtccacagcggcagagac	15	11	1	2			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr20:35075162G>A	ENST00000373907.2	+	6	1669	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	DLGAP4_ENST00000373913.3_Silent_p.A490A|DLGAP4_ENST00000401952.2_Silent_p.A490A|DLGAP4_ENST00000339266.5_Silent_p.A490A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	490					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGTGAAGCGGAGTCCACAG	0.642																																																	0								ENSG00000080845						48	34	39					20																	35075162		2203	4300	6503	DLGAP4	SO:0001819	synonymous_variant	0			-	HGNC	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1470G>A	20.37:g.35075162G>A		Somatic	0	86	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	28	45.10	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	19	0	0	38	38.71	24	pfam_GKAP	p.A490	ENST00000373907.2	37	c.1470		20																																																																																			-	NULL		0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	protein_coding	OTTHUMT00000079025.2	G	NM_014902	-		35075162	1	no_errors	ENST00000339266	ensembl	human	known	74_37	silent	SNP	0.001	A	A	35075162	G	A	35075162	2	1	140	1	0	0	0	0	0	0	0	1	4564	1103	39	1		1	DLGAP4	20	35075162	Silent	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09	12512320	35075162	27950358	48	10529											
ELFN2	114794	genome.wustl.edu	37	chr22	37770666	37770666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgaggtgaacgtgacGtggtgcagcttgatggctgg	19	7	0	3	rs201226596		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chr22:37770666G>A	ENST00000402918.2	-	3	1694	c.909C>T	c.(907-909)caC>caT	p.H303H	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	303	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGAACGTGACGTGGTGCAGCT	0.607													G|||	1	0.000199681	0	0	5008	,	,		18628	0		0	False		,,,				2504	0.001																0								ENSG00000166897	G		1,4405	2.1+/-5.4	0,1,2202	248	213	225		909	-3.4	1	22		225	0,8600		0,0,4300	no	coding-synonymous	ELFN2	NM_052906.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		303/821	37770666	1,13005	2203	4300	6503	ELFN2	SO:0001819	synonymous_variant	0			-	HGNC	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.909C>T	22.37:g.37770666G>A		Somatic	0	94	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	14	76.27	Q96PY3	Silent	SNP	28	0	0	6	80.65	25	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.H303	ENST00000402918.2	37	c.909	CCDS33642.1	22																																																																																			-	superfamily_Fibronectin_type3		0.607	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	protein_coding	OTTHUMT00000318900.2	G	NM_052906	rs201226596		37770666	-1	no_errors	ENST00000402918	ensembl	human	known	74_37	silent	SNP	0.337	A	A	37770666	G	A	37770666	2	1	140	1	0	0	0	0	0	0	0	1	5060	1136	40	1		1	ELFN2	22	37770666	Silent	SNP	G	TCGA-FX-A48G-01A-11D-A24N-09		37770666	13533900	49	10530											
DMD	1756	genome.wustl.edu	37	chrX	32407656	32407656	+	Frame_Shift_Del	DEL	C	C	-													tgactgtactacttcctgttCcacactctttgtttccaatg					rs369118010		TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chrX:32407656delC	ENST00000357033.4	-	32	4686	c.4480delG	c.(4480-4482)gaafs	p.E1494fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.E1490fs	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	1494	Interaction with SYNM. {ECO:0000250}.				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)				ACTTCCTGTTCCACACTCTTT	0.408																																																	0								ENSG00000198947						210	158	176					X																	32407656		2202	4300	6502	DMD	SO:0001589	frameshift_variant	0				HGNC	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.4480delG	X.37:g.32407656delC	ENSP00000354923:p.Glu1494fs	Somatic	0	56	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	30	0	0	17	0.00	0	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.E1494fs	ENST00000357033.4	37	c.4480	CCDS14233.1	X																																																																																			-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	C	NM_004006			32407656	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	frame_shift_del	DEL	0.965	-	-	32407656	C	-	32407656	7	5	140	1	0	1	0	1	0	0	0	0	4582	864	30	0	6917	0	DMD	23	32407656	Frame_Shift_Del	DEL	C	TCGA-FX-A48G-01A-11D-A24N-09		32407656	122862904	50	10531											
MED12	9968	genome.wustl.edu	37	chrX	70361169	70361170	+	In_Frame_Ins	INS	-	-	CAC													aacagcaacaccagcagcaaINScagcagcaacaggcggctcc							TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chrX:70361169_70361170insCAC	ENST00000374080.3	+	43	6389_6390	c.6357_6358insCAC	c.(6358-6360)cag>CACcag	p.2119_2120insH	MED12_ENST00000374102.1_In_Frame_Ins_p.2118_2119insH|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_In_Frame_Ins_p.2122_2123insH			Q93074	MED12_HUMAN	mediator complex subunit 12	2119	Gln-rich.				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)					accagcagcaacagcagcaaca	0.614			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0								ENSG00000184634			38,3266		2,32,2,1429,376						2.4	1			32	125,5433		3,78,41,2000,1355	no	coding	MED12	NM_005120.2		5,110,43,3429,1731	A1A1,A1R,A1,RR,R		2.249,1.1501,1.8393				163,8699				MED12	SO:0001652	inframe_insertion	0				HGNC	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	Exception_encountered	X.37:g.70361169_70361170insCAC	ENSP00000363193:p.Gln2119_Gln2120insHis	Somatic	0	59	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Ins	INS	13	0	0	30	9.09	3	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.2122in_frame_insH	ENST00000374080.3	37	c.6366_6367	CCDS43970.1	X																																																																																			-	NULL		0.614	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	-	NM_005120			70361170	1	no_errors	ENST00000333646	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	CAC	CAC	70361170	-	CAC	70361169	7	5	140	1	0	1	1	0	0	0	0	0	9430	40	2	0	6527	0	MED12	23	70361169	In_Frame_Ins	INS	-	TCGA-FX-A48G-01A-11D-A24N-09	37953513	70361169	84909391	51	10532											
TSPAN6	7105	genome.wustl.edu	37	chrX	99890554	99890554	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgaaaacaaggactcaCcagttttagcatccatgcag	7	10	1	1			TCGA-FX-A48G-01A-11D-A24N-09	TCGA-FX-A48G-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb5e1546-cda6-4991-911c-f3dd9f1a475a	9ff2246f-8c56-445f-b2d9-aeeff5ce527a	g.chrX:99890554C>A	ENST00000373020.4	-	2	388		c.e2+1		TSPAN6_ENST00000496771.1_Splice_Site	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6						negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CAAGGACTCACCAGTTTTAGC	0.403																																																	0								ENSG00000000003						34	30	31					X																	99890554		2203	4300	6503	TSPAN6	SO:0001630	splice_region_variant	0			-	HGNC	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.276+1G>T	X.37:g.99890554C>A		Somatic	0	41	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q54A42|Q6IAN9	Splice_Site	SNP	27	0	0	33	8.33	3	-	e2+1	ENST00000373020.4	37	c.276+1	CCDS14470.1	X	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142104	0.77775	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8251	0.85929	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSPAN6	99777210	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.487000	0.81328	2.234000	0.73211	0.523000	0.50628	.	-	-		0.403	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN6	protein_coding	OTTHUMT00000057483.1	C		-	Intron	99890554	-1	no_errors	ENST00000373020	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	99890554	C	A	99890554	5	1	140	1	0	0	0	0	0	0	1	0	16658	521	18	3	484	3	TSPAN6	23	99890554	Splice_Site	SNP	C	TCGA-FX-A48G-01A-11D-A24N-09	29529385	99890554	55380006	52	10533											
TCEB3	6924	genome.wustl.edu	37	chr1	24080854	24080854	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttggtttctctgcagcAatctttgaagtgggaggagt	12	7	2	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr1:24080854A>G	ENST00000418390.2	+	7	2044	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S	TCEB3_ENST00000609199.1_Splice_Site_p.S565S	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	591	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCTCTGCAGCAATCTTTGAAG	0.478																																																	0								ENSG00000011007						161	145	150					1																	24080854		2203	4300	6503	TCEB3	SO:0001630	splice_region_variant	0			-	HGNC	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1772-1A>G	1.37:g.24080854A>G		Somatic	0	39	0		0.59927724872069	46	41.03	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	34	34.62	B2R7Q8|Q8IXH1	Silent	SNP							pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.S591	ENST00000418390.2	37	c.1773	CCDS239.2	1																																																																																			-	NULL		0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	protein_coding	OTTHUMT00000008230.2	A	NM_003198	-	Silent	24080854	1	no_errors	ENST00000418390	ensembl	human	known	74_37	silent	SNP	0.831	G	G	24080854	A	G	24080854	5	3	141	1	0	0	0	0	0	0	1	0	15688	144	5	5	1799	5	TCEB3	1	24080854	Splice_Site	SNP	A	TCGA-FX-A76Y-01A-11D-A351-09		24080854	225169767	1	10534											
SORT1	6272	genome.wustl.edu	37	chr1	109896993	109896993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaactggacttacttcaGtgctgagagctaaaagataa	8	9	2	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr1:109896993G>T	ENST00000256637.6	-	5	762	c.704C>A	c.(703-705)aCt>aAt	p.T235N	SORT1_ENST00000482236.1_5'Flank|SORT1_ENST00000538502.1_Missense_Mutation_p.T99N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	235					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACTTACTTCAGTGCTGAGAGC	0.373																																																	0								ENSG00000134243						108	106	107					1																	109896993		2203	4300	6503	SORT1	SO:0001583	missense	0			-	HGNC	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.704C>A	1.37:g.109896993G>T	ENSP00000256637:p.Thr235Asn	Somatic	0	39	0		0.59927724872069	69	1.43	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP							pfam_BNR_rpt,smart_VPS10	p.T235N	ENST00000256637.6	37	c.704	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330576	0.41297	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.29142	1.58;1.58	5.41	5.41	0.78517	VPS10 (1);	0.327214	0.33515	N	0.004838	T	0.06645	0.0170	N	0.12746	0.255	0.29476	N	0.856727	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19679	-1.0298	10	0.17832	T	0.49	-15.0356	11.4592	0.50199	0.0838:0.0:0.9162:0.0	.	99;235	B4DWI3;Q99523	.;SORT_HUMAN	N	235;99	ENSP00000256637:T235N;ENSP00000438597:T99N	ENSP00000256637:T235N	T	-	2	0	SORT1	109698516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.131000	0.42074	2.515000	0.84797	0.655000	0.94253	ACT	-	smart_VPS10		0.373	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	protein_coding	OTTHUMT00000033179.1	G	NM_002959	-		109896993	-1	no_errors	ENST00000256637	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109896993	G	T	109896993	3	4	141	1	0	0	0	0	1	0	0	0	14943	1029	36	3	1855	3	SORT1	1	109896993	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	85816139	109896993	139353628	2	10535											
RBM15	64783	genome.wustl.edu	37	chr1	110883188	110883188	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctagacatcactgtaacggaGagtgatttaagaagggcgtt	12	6	1	4	rs556732179		TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr1:110883188G>C	ENST00000369784.3	+	1	2061	c.1161G>C	c.(1159-1161)gaG>gaC	p.E387D	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.E387D|RBM15_ENST00000602849.1_Missense_Mutation_p.E387D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	387	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGTAACGGAGAGTGATTTAA	0.488			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0								ENSG00000162775						51	51	51					1																	110883188		2203	4300	6503	RBM15	SO:0001583	missense	0			-	HGNC	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1161G>C	1.37:g.110883188G>C	ENSP00000358799:p.Glu387Asp	Somatic	0	47	0		0.59927724872069	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP							pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E387D	ENST00000369784.3	37	c.1161	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423466	0.25639	.	.	ENSG00000162775	ENST00000369784	T	0.21191	2.02	4.69	2.82	0.32997	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.44483	D	0.000443	T	0.09905	0.0243	L	0.39514	1.22	0.51482	D	0.999924	B;P	0.45348	0.066;0.856	B;P	0.44597	0.056;0.454	T	0.05386	-1.0888	10	0.39692	T	0.17	-14.3952	10.498	0.44789	0.1576:0.0:0.8424:0.0	.	387;387	Q96T37-3;Q96T37	.;RBM15_HUMAN	D	387	ENSP00000358799:E387D	ENSP00000358799:E387D	E	+	3	2	RBM15	110684711	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.082000	0.57635	0.598000	0.29829	0.655000	0.94253	GAG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.488	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	protein_coding	OTTHUMT00000031114.2	G	NM_022768	-		110883188	1	no_errors	ENST00000369784	ensembl	human	known	74_37	missense	SNP	0.989	C	C	110883188	G	C	110883188	3	2	141	1	0	0	0	0	1	0	0	0	13124	933	33	4	1163	4	RBM15	1	110883188	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	986195	110883188	138367433	3	10536											
PPIAL4G	644591	genome.wustl.edu	37	chr1	143767744	143767744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgctcagagcacgaaaGttttctgctgtctttggaat	10	9	3	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr1:143767744G>T	ENST00000419275.1	-	1	137	c.105C>A	c.(103-105)aaC>aaA	p.N35K		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	35	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GAGCACGAAAGTTTTCTGCTG	0.468																																																	0								ENSG00000236334						112	105	107					1																	143767744		1568	3578	5146	PPIAL4G	SO:0001583	missense	0			-	HGNC		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.105C>A	1.37:g.143767744G>T	ENSP00000393845:p.Asn35Lys	Somatic	0	327	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	85	258	24.78	A1L431	Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.N35K	ENST00000419275.1	37	c.105	CCDS41375.1	1	.	.	.	.	.	.	.	.	.	.	.	19.15	3.771747	0.69992	.	.	ENSG00000236334	ENST00000419275	T	0.32753	1.44	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.055346	0.64402	N	0.000002	T	0.50922	0.1644	H	0.98068	4.14	0.25060	N	0.99107	D	0.57899	0.981	D	0.67900	0.954	T	0.36553	-0.9743	10	0.59425	D	0.04	.	6.9309	0.24442	1.0E-4:0.0:0.9999:0.0	.	35	A2BFH1	PAL4G_HUMAN	K	35	ENSP00000393845:N35K	ENSP00000393845:N35K	N	-	3	2	PPIAL4G	142559267	1.000000	0.71417	0.966000	0.40874	0.890000	0.51754	0.920000	0.28705	0.587000	0.29643	0.403000	0.27427	AAC	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4G	protein_coding	OTTHUMT00000037969.1	G	NM_001123068	-		143767744	-1	no_errors	ENST00000419275	ensembl	human	known	74_37	missense	SNP	1.000	T	T	143767744	G	T	143767744	3	4	141	1	0	0	0	0	1	0	0	0	12323	1020	36	3	393	3	PPIAL4G	1	143767744	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	32884556	143767744	105482877	4	10537											
PIGC	5279	genome.wustl.edu	37	chr1	172411238	172411238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatgttcaaggatagtgtGctggatacaatggcagcatt	12	7	1	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr1:172411238G>T	ENST00000367728.1	-	1	1988	c.525C>A	c.(523-525)agC>agA	p.S175R	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.S175R|PIGC_ENST00000258324.1_Missense_Mutation_p.S175R|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	175					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AGGATAGTGTGCTGGATACAA	0.478																																																	0								ENSG00000135845						102	82	88					1																	172411238		2203	4300	6503	PIGC	SO:0001583	missense	0			-	HGNC	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.525C>A	1.37:g.172411238G>T	ENSP00000356702:p.Ser175Arg	Somatic	0	33	0		0.59927724872069	161	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	O14491	Missense_Mutation	SNP							pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2	p.S175R	ENST00000367728.1	37	c.525	CCDS1302.1	1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252883	0.39797	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.41065	1.01;1.01;1.01	5.34	4.42	0.53409	.	0.046402	0.85682	D	0.000000	T	0.29945	0.0749	L	0.46157	1.445	0.80722	D	1	P	0.47484	0.896	P	0.49887	0.625	T	0.02533	-1.1145	10	0.30078	T	0.28	-6.2388	9.5423	0.39260	0.1623:0.0:0.8377:0.0	.	175	Q92535	PIGC_HUMAN	R	175	ENSP00000356701:S175R;ENSP00000356702:S175R;ENSP00000258324:S175R	ENSP00000258324:S175R	S	-	3	2	PIGC	170677861	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.833000	0.27504	2.505000	0.84491	0.650000	0.86243	AGC	-	pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2		0.478	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	protein_coding	OTTHUMT00000084068.1	G	NM_153747	-		172411238	-1	no_errors	ENST00000258324	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172411238	G	T	172411238	3	4	141	1	0	0	0	0	1	0	0	0	11888	1310	46	3	372	3	PIGC	1	172411238	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	28643494	172411238	76839383	5	10538											
FMOD	2331	genome.wustl.edu	37	chr1	203311601	203311601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgacgtccaccacggtgCagaagctgctgatggagaac	12	12	1	3			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr1:203311601C>T	ENST00000354955.4	-	3	1464	c.1001G>A	c.(1000-1002)tGc>tAc	p.C334Y	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	334					carbohydrate metabolic process (GO:0005975)|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)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CACCACGGTGCAGAAGCTGCT	0.602											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000122176						38	35	36					1																	203311601		2203	4300	6503	FMOD	SO:0001583	missense	0			-	HGNC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1001G>A	1.37:g.203311601C>T	ENSP00000347041:p.Cys334Tyr	Somatic	0	19	0	2136	0.59927724872069	72	65.05	134	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	Q15331|Q8IV47	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.C334Y	ENST00000354955.4	37	c.1001	CCDS30976.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020963	0.93462	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04119	3.7	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00069	-1.2136	10	0.87932	D	0	-11.2657	17.7886	0.88546	0.0:1.0:0.0:0.0	.	334	Q06828	FMOD_HUMAN	Y	321;334	ENSP00000347041:C334Y	ENSP00000347041:C334Y	C	-	2	0	FMOD	201578224	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.459000	0.80802	2.532000	0.85374	0.655000	0.94253	TGC	-	pfam_Leu-rich_rpt		0.602	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	protein_coding	OTTHUMT00000087472.1	C	NM_002023	-		203311601	-1	no_errors	ENST00000354955	ensembl	human	known	74_37	missense	SNP	1.000	T	T	203311601	C	T	203311601	3	4	141	1	0	0	0	0	1	0	0	0	5961	710	25	2	133	2	FMOD	1	203311601	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09	30900363	203311601	45939020	6	10539											
RNF149	284996	genome.wustl.edu	37	chr2	101893740	101893740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgagagtcactcctgccgGcttctgcaagagagcaacat	11	13	2	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr2:101893740G>T	ENST00000295317.3	-	7	1270	c.1163C>A	c.(1162-1164)gCc>gAc	p.A388D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	388					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ACTCCTGCCGGCTTCTGCAAG	0.478																																					Colon(25;331 612 6521 7355 31028)												0								ENSG00000163162						44	44	44					2																	101893740		2203	4300	6503	RNF149	SO:0001583	missense	0			-	HGNC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1163C>A	2.37:g.101893740G>T	ENSP00000295317:p.Ala388Asp	Somatic	0	73	0		0.59927724872069	76	6.17	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A388D	ENST00000295317.3	37	c.1163	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.116724	0.01799	.	.	ENSG00000163162	ENST00000295317	T	0.08370	3.1	4.89	0.781	0.18561	.	1.233990	0.06245	N	0.691050	T	0.05044	0.0135	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45527	-0.9255	10	0.12103	T	0.63	.	4.8651	0.13604	0.2854:0.1587:0.5559:0.0	.	388	Q8NC42	RN149_HUMAN	D	388	ENSP00000295317:A388D	ENSP00000295317:A388D	A	-	2	0	RNF149	101260172	0.000000	0.05858	0.002000	0.10522	0.132000	0.20833	0.228000	0.17814	0.216000	0.20781	0.563000	0.77884	GCC	-	NULL		0.478	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	protein_coding	OTTHUMT00000253180.2	G	NM_173647	-		101893740	-1	no_errors	ENST00000295317	ensembl	human	known	74_37	missense	SNP	0.002	T	T	101893740	G	T	101893740	3	4	141	1	0	0	0	0	1	0	0	0	13458	1203	42	3	43	3	RNF149	2	101893740	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		101893740	141305633	7	10540											
NCKAP5	344148	genome.wustl.edu	37	chr2	133542322	133542322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctggtaacagtgacaaCcccagtctggtgagagctga	11	9	2	3			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr2:133542322C>A	ENST00000409261.1	-	14	2435	c.2062G>T	c.(2062-2064)Gtt>Ttt	p.V688F	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V688F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	688										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						ACAGTGACAACCCCAGTCTGG	0.438																																																	0								ENSG00000176771						136	129	131					2																	133542322		1881	4119	6000	NCKAP5	SO:0001583	missense	0			-	HGNC	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.2062G>T	2.37:g.133542322C>A	ENSP00000387128:p.Val688Phe	Somatic	0	52	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	26	53.57	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP							NULL	p.V688F	ENST00000409261.1	37	c.2062	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	c	12.06	1.825776	0.32237	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.44083	0.93;0.93	5.64	-3.01	0.05463	.	0.587199	0.12636	U	0.451715	T	0.23926	0.0579	L	0.29908	0.895	0.23386	N	0.997789	B	0.33212	0.402	B	0.33521	0.165	T	0.16041	-1.0416	10	0.72032	D	0.01	.	2.1889	0.03893	0.1046:0.2571:0.3254:0.3129	.	688	O14513	NCKP5_HUMAN	F	688	ENSP00000387128:V688F;ENSP00000380603:V688F	ENSP00000380603:V688F	V	-	1	0	NCKAP5	133258792	0.640000	0.27243	0.024000	0.17045	0.927000	0.56198	-0.083000	0.11286	-0.877000	0.04012	-0.155000	0.13514	GTT	-	NULL		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	protein_coding	OTTHUMT00000331663.1	C	NM_207481	-		133542322	-1	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	SNP	0.217	A	A	133542322	C	A	133542322	3	1	141	1	0	0	0	0	1	0	0	0	10225	507	18	3	3695	3	NCKAP5	2	133542322	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09	31648582	133542322	109657051	8	10541											
ARAP2	116984	genome.wustl.edu	37	chr4	36069535	36069535	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcattttatttcctacttCaaaatctgctcatcctgtaa	2	10	4	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr4:36069535C>A	ENST00000303965.4	-	33	5598	c.5109G>T	c.(5107-5109)ttG>ttT	p.L1703F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1703					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						TTTCCTACTTCAAAATCTGCT	0.318																																																	0								ENSG00000047365						53	56	55					4																	36069535		2203	4300	6503	ARAP2	SO:0001583	missense	0			-	HGNC	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.5109G>T	4.37:g.36069535C>A	ENSP00000302895:p.Leu1703Phe	Somatic	0	46	0		0.59927724872069	13	38.1	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	17	59.52	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1703F	ENST00000303965.4	37	c.5109	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	3.500	-0.101955	0.06967	.	.	ENSG00000047365	ENST00000303965	T	0.10960	2.82	4.93	1.2	0.21068	.	0.990092	0.08211	N	0.980772	T	0.07683	0.0193	N	0.24115	0.695	0.09310	N	1	B	0.29085	0.232	B	0.24701	0.055	T	0.38308	-0.9667	10	0.66056	D	0.02	.	6.7242	0.23346	0.0:0.6004:0.0:0.3996	.	1703	Q8WZ64	ARAP2_HUMAN	F	1703	ENSP00000302895:L1703F	ENSP00000302895:L1703F	L	-	3	2	ARAP2	35745930	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.187000	0.09656	0.078000	0.16900	0.650000	0.86243	TTG	-	NULL		0.318	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	C	NM_015230	-		36069535	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	0.000	A	A	36069535	C	A	36069535	3	1	141	1	0	0	0	0	1	0	0	0	839	825	29	3	9	3	ARAP2	4	36069535	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09		36069535	155084741	9	10542											
HERC6	55008	genome.wustl.edu	37	chr4	89338623	89338623	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttctctgaatccgctgatCcagatgcttaaagcagccat	7	12	2	3			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr4:89338623C>T	ENST00000264346.7	+	13	1664	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	HERC6_ENST00000380265.5_Silent_p.I535I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	535					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATCCGCTGATCCAGATGCTTA	0.408																																																	0								ENSG00000138642						72	66	68					4																	89338623		1872	4097	5969	HERC6	SO:0001819	synonymous_variant	0			-	HGNC	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1605C>T	4.37:g.89338623C>T		Somatic	0	68	0		0.59927724872069	29	6.45	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	45	40.00	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP							pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.I535	ENST00000264346.7	37	c.1605	CCDS47098.1	4																																																																																			-	NULL		0.408	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	protein_coding	OTTHUMT00000363259.2	C		-		89338623	1	no_errors	ENST00000264346	ensembl	human	known	74_37	silent	SNP	1.000	T	T	89338623	C	T	89338623	2	4	141	1	0	0	0	0	0	0	0	1	7064	845	30	2		2	HERC6	4	89338623	Silent	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09	53269088	89338623	101815653	10	10543											
USP38	84640	genome.wustl.edu	37	chr4	144107117	144107117	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcacgttctgtcaacagctgGttcgaacgataggccatttc	9	11	3	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr4:144107117G>C	ENST00000307017.4	+	1	1020	c.514G>C	c.(514-516)Gtt>Ctt	p.V172L	RP11-284M14.1_ENST00000507486.1_RNA|RP11-284M14.1_ENST00000507826.1_RNA|USP38_ENST00000510377.1_Missense_Mutation_p.V172L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	172					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TCAACAGCTGGTTCGAACGAT	0.542																																																	0								ENSG00000170185						102	99	100					4																	144107117		2203	4300	6503	USP38	SO:0001583	missense	0			-	HGNC	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.514G>C	4.37:g.144107117G>C	ENSP00000303434:p.Val172Leu	Somatic	0	26	0		0.59927724872069	25	3.85	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.V172L	ENST00000307017.4	37	c.514	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737698	0.89573	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.62105	0.05;0.11	5.12	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.64571	0.2610	L	0.34521	1.04	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.55871	0.729;0.786	T	0.68685	-0.5343	10	0.72032	D	0.01	-5.2924	13.9186	0.63916	0.073:0.0:0.9269:0.0	.	172;172	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	L	172	ENSP00000427647:V172L;ENSP00000303434:V172L	ENSP00000303434:V172L	V	+	1	0	USP38	144326567	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.040000	0.57333	1.401000	0.46761	0.561000	0.74099	GTT	-	NULL		0.542	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	protein_coding	OTTHUMT00000364869.1	G	NM_032557	-		144107117	1	no_errors	ENST00000307017	ensembl	human	known	74_37	missense	SNP	1.000	C	C	144107117	G	C	144107117	3	2	141	1	0	0	0	0	1	0	0	0	17076	1261	44	4	516	4	USP38	4	144107117	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	54768494	144107117	47047159	11	10544											
MAP1B	4131	genome.wustl.edu	37	chr5	71489794	71489794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactccaatcttgacagacaCaatctccaagacttcatcaa	3	13	4	3			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr5:71489794C>A	ENST00000296755.7	+	5	910	c.612C>A	c.(610-612)caC>caA	p.H204Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	204					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)		TTGACAGACACAATCTCCAAG	0.448																																					Melanoma(17;367 822 11631 31730 47712)												0								ENSG00000131711						102	98	99					5																	71489794		2203	4300	6503	MAP1B	SO:0001583	missense	0			-	HGNC	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.612C>A	5.37:g.71489794C>A	ENSP00000296755:p.His204Gln	Somatic	0	63	0		0.59927724872069	13	48	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	42	40.85	A2BDK5	Missense_Mutation	SNP							pfam_MAP1B_neuraxin	p.H204Q	ENST00000296755.7	37	c.612	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836840	0.32421	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.04706	3.57;3.57;3.57	6.08	2.94	0.34122	.	0.000000	0.64402	D	0.000001	T	0.11879	0.0289	L	0.45228	1.405	0.51233	D	0.999915	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.17531	-1.0366	10	0.20046	T	0.44	-16.1611	12.0035	0.53246	0.0:0.7356:0.0:0.2644	.	78;204	A2BDK6;P46821	.;MAP1B_HUMAN	Q	204;221;78	ENSP00000296755:H204Q;ENSP00000423444:H221Q;ENSP00000423416:H78Q	ENSP00000296755:H204Q	H	+	3	2	MAP1B	71525550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.460000	0.35244	0.908000	0.36671	0.591000	0.81541	CAC	-	NULL		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	C	NM_005909	-		71489794	1	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71489794	C	A	71489794	3	1	141	1	0	0	0	0	1	0	0	0	9230	477	17	3	630	3	MAP1B	5	71489794	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09		71489794	109425466	12	10545											
EFNA5	1946	genome.wustl.edu	37	chr5	106763174	106763174	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaacatccaggtagtcattGatacagacatcaatatggta	7	7	2	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr5:106763174G>T	ENST00000333274.6	-	2	443	c.162C>A	c.(160-162)atC>atA	p.I54I	EFNA5_ENST00000509503.1_Silent_p.I54I	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	54	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTAGTCATTGATACAGACAT	0.413																																																	0								ENSG00000184349						125	125	125					5																	106763174		2202	4300	6502	EFNA5	SO:0001819	synonymous_variant	0			-	HGNC	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.162C>A	5.37:g.106763174G>T		Somatic	0	34	0		0.59927724872069	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Silent	SNP							pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.I54	ENST00000333274.6	37	c.162	CCDS4097.1	5																																																																																			-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin		0.413	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	protein_coding	OTTHUMT00000250652.1	G	NM_001962	-		106763174	-1	no_errors	ENST00000333274	ensembl	human	known	74_37	silent	SNP	1.000	T	T	106763174	G	T	106763174	2	4	141	1	0	0	0	0	0	0	0	1	4956	1280	45	3		3	EFNA5	5	106763174	Silent	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	35273380	106763174	74152086	13	10546											
FABP6	2172	genome.wustl.edu	37	chr5	159640774	159640774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttgtctgcgtgcacatGggtgagccggaaaggagacc	16	8	1	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr5:159640774G>T	ENST00000393980.4	+	3	229	c.83G>T	c.(82-84)tGg>tTg	p.W28L	FABP6_ENST00000393982.1_Missense_Mutation_p.W28L	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTGCACATGGGTGAGCCGG	0.483																																					Colon(29;562 677 12756 16385 20992)												0								ENSG00000170231						151	160	157					5																	159640774		2059	4226	6285	FABP6	SO:0001583	missense	0			-	HGNC	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"Fatty acid binding protein family"	3561	protein-coding gene	gene with protein product	"illeal lipid-binding protein", "ileal bile acid binding protein", "gastrotropin"	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000393980.4:c.83G>T	5.37:g.159640774G>T	ENSP00000377549:p.Trp28Leu	Somatic	0	49	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP							superfamily_Calycin-like,prints_Fatty_acid-bd	p.W28L	ENST00000393980.4	37	c.83	CCDS43393.1	5	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901207	0.33535	.	.	ENSG00000170231	ENST00000393980;ENST00000393982	T;T	0.13307	2.6;2.6	2.08	2.08	0.27032	.	0.063246	0.08080	U	1.000000	T	0.32102	0.0818	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.80764	0.994	T	0.10823	-1.0613	9	0.87932	D	0	.	7.7054	0.28646	0.0:0.0:1.0:0.0	.	28	P51161-2	.	L	28	ENSP00000377549:W28L;ENSP00000377551:W28L	ENSP00000377549:W28L	W	+	2	0	FABP6	159573352	0.006000	0.16342	0.030000	0.17652	0.022000	0.10575	1.956000	0.40382	1.469000	0.48083	0.549000	0.68633	TGG	-	NULL		0.483	FABP6-001	KNOWN	basic|CCDS	protein_coding	FABP6	protein_coding	OTTHUMT00000252678.4	G	NM_001040442	-		159640774	1	no_errors	ENST00000393980	ensembl	human	known	74_37	missense	SNP	0.034	T	T	159640774	G	T	159640774	3	4	141	1	0	0	0	0	1	0	0	0	5363	1357	47	3	89	3	FABP6	5	159640774	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	52877600	159640774	21274486	14	10547											
PHACTR1	221692	genome.wustl.edu	37	chr6	13182854	13182854	+	Frame_Shift_Del	DEL	C	C	-													ctgtccgaaatggagccagtCccaatgcccagggatccctg							TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr6:13182854delC	ENST00000379350.1	+	6	729	c.600delC	c.(598-600)gtcfs	p.V200fs	PHACTR1_ENST00000379345.2_Frame_Shift_Del_p.V55fs|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.V200fs|PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.V55fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	200					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)			TGGAGCCAGTCCCAATGCCCA	0.567																																																	0								ENSG00000112137						83	87	86					6																	13182854		1978	4171	6149	PHACTR1	SO:0001589	frameshift_variant	0				HGNC	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.600delC	6.37:g.13182854delC	ENSP00000368655:p.Val200fs	Somatic	0	33	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Del	DEL							pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.P201fs	ENST00000379350.1	37	c.600		6																																																																																			-	NULL		0.567	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	protein_coding	OTTHUMT00000039876.1	C	XM_166420			13182854	1	no_errors	ENST00000379350	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	13182854	C	-	13182854	7	5	141	1	0	1	0	1	0	0	0	0	11811	842	30	0	618	0	PHACTR1	6	13182854	Frame_Shift_Del	DEL	C	TCGA-FX-A76Y-01A-11D-A351-09		13182854	157932213	15	10548											
PCLO	27445	genome.wustl.edu	37	chr7	82583496	82583496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaataacaatatgatcagcaCtagctctaccatctggtggg	8	9	3	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr7:82583496C>A	ENST00000333891.9	-	5	7110	c.6773G>T	c.(6772-6774)aGt>aTt	p.S2258I	PCLO_ENST00000423517.2_Missense_Mutation_p.S2258I	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						ATGATCAGCACTAGCTCTACC	0.388																																																	0								ENSG00000186472						79	76	77					7																	82583496		1878	4101	5979	PCLO	SO:0001583	missense	0			-	HGNC	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.6773G>T	7.37:g.82583496C>A	ENSP00000334319:p.Ser2258Ile	Somatic	0	48	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S2258I	ENST00000333891.9	37	c.6773	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	3.222	-0.159397	0.06544	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16897	2.31;2.31	5.7	2.54	0.30619	.	.	.	.	.	T	0.12603	0.0306	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.28235	-1.0050	9	0.87932	D	0	.	3.541	0.07811	0.2418:0.5031:0.1078:0.1474	.	2258;2258	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2189;2258;2258	ENSP00000334319:S2258I;ENSP00000388393:S2258I	ENSP00000334319:S2258I	S	-	2	0	PCLO	82421432	0.000000	0.05858	0.020000	0.16555	0.397000	0.30659	-0.036000	0.12185	0.731000	0.32448	-0.235000	0.12190	AGT	-	NULL		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82583496	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.000	A	A	82583496	C	A	82583496	3	1	141	1	0	0	0	0	1	0	0	0	11585	565	20	3	8756	3	PCLO	7	82583496	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09		82583496	76555167	16	10549											
EPHB6	2051	genome.wustl.edu	37	chr7	142562051	142562052	+	In_Frame_Ins	INS	-	-	CCTCCT													tgcagcagacgagagctttcINScctcctcctcctcctcctcc					rs143667567|rs372769362	byFrequency	TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr7:142562051_142562052insCCTCCT	ENST00000392957.2	+	7	1280_1281	c.493_494insCCTCCT	c.(493-495)ccc>cCCTCCTcc	p.175_176insSS	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_In_Frame_Ins_p.175_176insSS	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	175	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGAGAGCTTTCcctcctcctcc	0.624														633	0.126398	0.3563	0.0764	5008	,	,		23274	0.0238		0.0746	False		,,,				2504	0.0102																0								ENSG00000106123																																			EPHB6	SO:0001652	inframe_insertion	0				HGNC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.512_517dupCCTCCT	7.37:g.142562052_142562057dupCCTCCT	ENSP00000376684:p.Ser174_Ser175dup	Somatic					0.59927724872069	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	In_Frame_Ins	INS							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.169in_frame_insSS	ENST00000392957.2	37	c.493_494	CCDS5873.2	7																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.624	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	protein_coding	OTTHUMT00000341329.1	-				142562052	1	no_errors	ENST00000392957	ensembl	human	known	74_37	in_frame_ins	INS	0.998:0.978	CCTCCT	CCTCCT	142562052	-	CCTCCT	142562051	7	5	141	1	0	1	1	0	0	0	0	0	5180	855	30	0	503	0	EPHB6	7	142562051	In_Frame_Ins	INS	-	TCGA-FX-A76Y-01A-11D-A351-09	59978555	142562051	16576612	17	10550											
HTR5A	3361	genome.wustl.edu	37	chr7	154863029	154863029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatagccctggaccgctaCtggtccatcacgcgccacat	9	17	1	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr7:154863029C>T	ENST00000287907.2	+	1	996	c.420C>T	c.(418-420)taC>taT	p.Y140Y	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	140					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)			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)	TGGACCGCTACTGGTCCATCA	0.627																																																	0								ENSG00000157219						86	64	71					7																	154863029		2203	4300	6503	HTR5A	SO:0001819	synonymous_variant	0			-	HGNC		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.420C>T	7.37:g.154863029C>T		Somatic	0	36	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	62.50	Q2M2D2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.Y140	ENST00000287907.2	37	c.420	CCDS5936.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	protein_coding	OTTHUMT00000322240.1	C	NM_024012	-		154863029	1	no_errors	ENST00000287907	ensembl	human	known	74_37	silent	SNP	1.000	T	T	154863029	C	T	154863029	2	4	141	1	0	0	0	0	0	0	0	1	7452	576	20	2		2	HTR5A	7	154863029	Silent	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09	12300978	154863029	4275634	18	10551											
CLN8	2055	genome.wustl.edu	37	chr8	1728483	1728483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattcacatgtttcactgccGcatggttctaacctaccaca	6	13	3	0	rs386834134		TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr8:1728483G>T	ENST00000331222.4	+	3	858	c.611G>T	c.(610-612)cGc>cTc	p.R204L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	204	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.		R -> C (in CLN8). {ECO:0000269|PubMed:15024724}.		adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTTCACTGCCGCATGGTTCTA	0.522																																					Pancreas(155;338 1942 6138 10888 50612)												0								ENSG00000182372						223	143	170					8																	1728483		2203	4300	6503	CLN8	SO:0001583	missense	0			-	HGNC	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.611G>T	8.37:g.1728483G>T	ENSP00000328182:p.Arg204Leu	Somatic	0	46	0		0.59927724872069	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q86U71|Q96I95	Missense_Mutation	SNP							pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.R204L	ENST00000331222.4	37	c.611	CCDS5956.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.167182	0.94768	.	.	ENSG00000182372	ENST00000331222	D	0.99760	-6.66	5.17	4.29	0.51040	TRAM/LAG1/CLN8 homology domain (3);	0.091849	0.44688	N	0.000428	D	0.99670	0.9877	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97208	0.9869	10	0.72032	D	0.01	-4.8069	13.086	0.59140	0.0775:0.0:0.9225:0.0	.	204	Q9UBY8	CLN8_HUMAN	L	204	ENSP00000328182:R204L	ENSP00000328182:R204L	R	+	2	0	CLN8	1715890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.222000	0.78025	2.400000	0.81607	0.650000	0.86243	CGC	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom		0.522	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN8	protein_coding	OTTHUMT00000206715.2	G	NM_018941	-		1728483	1	no_errors	ENST00000331222	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1728483	G	T	1728483	3	4	141	1	0	0	0	0	1	0	0	0	3548	1087	38	3	617	3	CLN8	8	1728483	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		1728483	144635539	19	10552											
NEFM	4741	genome.wustl.edu	37	chr8	24775916	24775916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggggggtgataaaagtgagGagaaagtggtggtgaccaaa	18	2	0	4			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr8:24775916G>T	ENST00000221166.5	+	3	3330	c.2548G>T	c.(2548-2550)Gag>Tag	p.E850*	NEFM_ENST00000433454.2_Nonsense_Mutation_p.E474*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E811*|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E632*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	850	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TAAAAGTGAGGAGAAAGTGGT	0.478																																																	0								ENSG00000104722						58	66	64					8																	24775916		2203	4300	6503	NEFM	SO:0001587	stop_gained	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2548G>T	8.37:g.24775916G>T	ENSP00000221166:p.Glu850*	Somatic	0	27	0		0.59927724872069	794	0.13	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP							pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E850*	ENST00000221166.5	37	c.2548	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646288	0.87958	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.41	4.41	0.53225	.	0.144196	0.30565	N	0.009359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.8404	0.57800	0.0:0.1643:0.8356:0.0	.	.	.	.	X	850;632;811;474	.	ENSP00000221166:E850X	E	+	1	0	NEFM	24831821	1.000000	0.71417	0.740000	0.30986	0.083000	0.17756	4.590000	0.61013	1.996000	0.58369	0.467000	0.42956	GAG	-	NULL		0.478	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	G	NM_005382	-		24775916	1	no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	SNP	0.945	T	T	24775916	G	T	24775916	4	4	141	1	0	0	0	0	0	1	0	0	10318	1175	41	3	2558	3	NEFM	8	24775916	Nonsense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	23047433	24775916	121588106	20	10553											
NAPRT1	93100	genome.wustl.edu	37	chr8	144658831	144658831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctccacacgctgtagGtgtccaggaggccctggaag	12	14	1	0	rs143378632		TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr8:144658831G>T	ENST00000449291.2	-	6	1160	c.866C>A	c.(865-867)aCc>aAc	p.T289N	NAPRT1_ENST00000276844.7_Missense_Mutation_p.T289N|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.T289N|NAPRT1_ENST00000435154.3_Missense_Mutation_p.T289N																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACGCTGTAGGTGTCCAGGAG	0.642																																																	0								ENSG00000147813						17	19	18					8																	144658831		2199	4291	6490	NAPRT1	SO:0001583	missense	0			-	HGNC																												ENST00000449291.2:c.866C>A	8.37:g.144658831G>T	ENSP00000401508:p.Thr289Asn	Somatic	0	19	0		0.59927724872069	68	34.91	37	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38		Missense_Mutation	SNP							pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	p.T289N	ENST00000449291.2	37	c.866	CCDS6403.2	8	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916027	0.52546	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.74209	-0.63;-0.65;-0.82;-0.75;-0.66	4.4	3.52	0.40303	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.222984	0.43919	D	0.000516	D	0.87661	0.6233	M	0.93763	3.455	0.24761	N	0.992927	P;D;B;B	0.76494	0.565;0.999;0.29;0.338	B;D;B;B	0.67900	0.239;0.954;0.154;0.239	T	0.80823	-0.1210	10	0.87932	D	0	-17.1985	11.0289	0.47761	0.0909:0.0:0.9091:0.0	.	289;289;289;289	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	N	289	ENSP00000405670:T289N;ENSP00000401508:T289N;ENSP00000341136:T289N;ENSP00000390949:T289N;ENSP00000276844:T289N	ENSP00000276844:T289N	T	-	2	0	NAPRT1	144729974	1.000000	0.71417	0.942000	0.38095	0.564000	0.35744	3.863000	0.56016	1.042000	0.40150	0.643000	0.83706	ACC	-	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB		0.642	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPRT1	protein_coding	OTTHUMT00000346708.3	G		-		144658831	-1	no_errors	ENST00000276844	ensembl	human	known	74_37	missense	SNP	0.999	T	T	144658831	G	T	144658831	3	4	141	1	0	0	0	0	1	0	0	0	10167	1261	44	3	782	3	NAPRT1	8	144658831	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	119882915	144658831	1705191	21	10554											
MED22	6837	genome.wustl.edu	37	chr9	136212030	136212030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctggccactcacgatGttggcggctcgcacatgcat	10	16	1	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr9:136212030G>T	ENST00000491289.1	-	3	782	c.201C>A	c.(199-201)aaC>aaA	p.N67K	MED22_ENST00000476080.1_Missense_Mutation_p.N67K|MED22_ENST00000371999.1_Intron|MED22_ENST00000344469.5_Missense_Mutation_p.N67K|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000343730.5_Missense_Mutation_p.N67K			Q15528	MED22_HUMAN	mediator complex subunit 22	67						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CACTCACGATGTTGGCGGCTC	0.607																																																	0								ENSG00000148297						118	81	94					9																	136212030		2203	4300	6503	MED22	SO:0001583	missense	0			-	HGNC		CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"surfeit 5"	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.201C>A	9.37:g.136212030G>T	ENSP00000420393:p.Asn67Lys	Somatic	0	61	0		0.59927724872069	67	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP							pfam_Mediator_Med22	p.N67K	ENST00000491289.1	37	c.201	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856269	0.32791	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	4.69	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.80982	2.52	0.80722	D	1	B;B	0.31485	0.325;0.03	B;B	0.34873	0.191;0.118	T	0.64045	-0.6499	9	0.39692	T	0.17	-19.9106	9.1715	0.37083	0.1962:0.0:0.8038:0.0	.	67;67	Q15528-2;Q15528	.;MED22_HUMAN	K	67	.	ENSP00000342343:N67K	N	-	3	2	MED22	135201851	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	3.362000	0.52314	2.152000	0.67230	0.462000	0.41574	AAC	-	pfam_Mediator_Med22		0.607	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	protein_coding	OTTHUMT00000054898.2	G	NM_133640	-		136212030	-1	no_errors	ENST00000343730	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136212030	G	T	136212030	3	4	141	1	0	0	0	0	1	0	0	0	9442	1368	48	3	423	3	MED22	9	136212030	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		136212030	5001401	22	10555											
SLC22A8	9376	genome.wustl.edu	37	chr11	62763277	62763277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagatctccttctgcagGttgagtttgagctccttcgg	12	9	2	3			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr11:62763277G>T	ENST00000336232.2	-	7	1035	c.900C>A	c.(898-900)aaC>aaA	p.N300K	SLC22A8_ENST00000535878.1_Missense_Mutation_p.N177K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N300K|SLC22A8_ENST00000311438.8_Missense_Mutation_p.N300K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.N209K|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	300					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTTCTGCAGGTTGAGTTTGA	0.587																																																	0								ENSG00000149452						128	121	123					11																	62763277		2201	4298	6499	SLC22A8	SO:0001583	missense	0			-	HGNC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.900C>A	11.37:g.62763277G>T	ENSP00000337335:p.Asn300Lys	Somatic	0	40	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.N300K	ENST00000336232.2	37	c.900	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179460	0.38511	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.196500	0.05907	N	0.631081	T	0.56673	0.2001	N	0.16368	0.405	0.30827	N	0.73709	B;B	0.12630	0.004;0.006	B;B	0.16289	0.015;0.014	T	0.30736	-0.9968	10	0.07175	T	0.84	.	13.97	0.64233	0.0:0.0:1.0:0.0	.	300;300	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	K	300;286;209;177;300;300	ENSP00000337335:N300K;ENSP00000441658:N209K;ENSP00000443368:N177K;ENSP00000311463:N300K;ENSP00000398548:N300K	ENSP00000311463:N300K	N	-	3	2	SLC22A8	62519853	0.999000	0.42202	0.935000	0.37517	0.971000	0.66376	4.209000	0.58493	2.341000	0.79615	0.455000	0.32223	AAC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.587	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	G	NM_004254	-		62763277	-1	no_errors	ENST00000336232	ensembl	human	known	74_37	missense	SNP	0.998	T	T	62763277	G	T	62763277	3	4	141	1	0	0	0	0	1	0	0	0	14468	1252	44	3	748	3	SLC22A8	11	62763277	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		62763277	72243239	23	10556											
SOX5	6660	genome.wustl.edu	37	chr12	23998945	23998945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtttttgatgagctcttcCattttcctctgcttcaaggt	7	10	3	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr12:23998945C>A	ENST00000451604.2	-	3	554	c.453G>T	c.(451-453)atG>atT	p.M151I	SOX5_ENST00000309359.1_Missense_Mutation_p.M138I|SOX5_ENST00000541536.1_Missense_Mutation_p.M138I|SOX5_ENST00000381381.2_Missense_Mutation_p.M138I|SOX5_ENST00000545921.1_Missense_Mutation_p.M141I|SOX5_ENST00000441133.2_Missense_Mutation_p.M116I|SOX5_ENST00000541847.1_Missense_Mutation_p.M141I|SOX5_ENST00000537393.1_Missense_Mutation_p.M116I|SOX5_ENST00000546136.1_Missense_Mutation_p.M138I			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	151					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.M151I(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						TGAGCTCTTCCATTTTCCTCT	0.443																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000134532						116	106	109					12																	23998945		2203	4300	6503	SOX5	SO:0001583	missense	0			-	HGNC	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.453G>T	12.37:g.23998945C>A	ENSP00000398273:p.Met151Ile	Somatic	0	45	0		0.59927724872069	10	16.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.M151I	ENST00000451604.2	37	c.453	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.095561	0.94197	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.96992	-4.17;-4.17;-4.2;-4.17;-4.16;-4.2;-4.17	5.79	5.79	0.91817	.	0.040904	0.85682	D	0.000000	D	0.96297	0.8792	M	0.67953	2.075	0.80722	D	1	P;B;B;B	0.46859	0.885;0.371;0.048;0.255	P;B;B;B	0.45577	0.486;0.157;0.024;0.155	D	0.95912	0.8924	10	0.49607	T	0.09	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	116;116;138;151	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	I	138;138;138;151;103;116;138;141;141;116;138	ENSP00000437487:M138I;ENSP00000308927:M138I;ENSP00000370788:M138I;ENSP00000398273:M151I;ENSP00000439832:M116I;ENSP00000441973:M138I;ENSP00000443520:M141I	ENSP00000308927:M138I	M	-	3	0	SOX5	23890212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	ATG	-	NULL		0.443	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	C	NM_006940	-		23998945	-1	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23998945	C	A	23998945	3	1	141	1	0	0	0	0	1	0	0	0	14962	594	21	3	1900	3	SOX5	12	23998945	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09		23998945	109852950	24	10557											
DNAH10	196385	genome.wustl.edu	37	chr12	124298365	124298365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcaagtttgtccttgcaaCaattgcagaaattagaagta	7	7	1	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr12:124298365C>A	ENST00000409039.3	+	20	3357	c.3332C>A	c.(3331-3333)aCa>aAa	p.T1111K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1111	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCCTTGCAACAATTGCAGAA	0.408																																																	0								ENSG00000197653						76	75	75					12																	124298365		2102	4263	6365	DNAH10	SO:0001583	missense	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3332C>A	12.37:g.124298365C>A	ENSP00000386770:p.Thr1111Lys	Somatic	0	93	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	54	25.00	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.T1111K	ENST00000409039.3	37	c.3332	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887538	0.91814	.	.	ENSG00000197653	ENST00000409039	T	0.22945	1.93	5.72	5.72	0.89469	.	.	.	.	.	T	0.48259	0.1490	M	0.80183	2.485	0.54753	D	0.999987	P	0.45011	0.848	P	0.52823	0.71	T	0.31613	-0.9937	9	0.29301	T	0.29	.	19.8751	0.96867	0.0:1.0:0.0:0.0	.	1111	Q8IVF4	DYH10_HUMAN	K	1111	ENSP00000386770:T1111K	ENSP00000386770:T1111K	T	+	2	0	DNAH10	122864318	1.000000	0.71417	0.113000	0.21522	0.987000	0.75469	5.720000	0.68470	2.695000	0.91970	0.655000	0.94253	ACA	-	NULL		0.408	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	C		-		124298365	1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	SNP	0.945	A	A	124298365	C	A	124298365	3	1	141	1	0	0	0	0	1	0	0	0	4600	478	17	3	3410	3	DNAH10	12	124298365	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09	100299420	124298365	9553530	25	10558											
SACS	26278	genome.wustl.edu	37	chr13	23906926	23906926	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtccataacagctggaGtacatcacattgcttgaatt	9	8	1	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr13:23906926G>C	ENST00000382292.3	-	9	11362	c.11089C>G	c.(11089-11091)Ctc>Gtc	p.L3697V	SACS_ENST00000402364.1_Missense_Mutation_p.L2947V|SACS_ENST00000382298.3_Missense_Mutation_p.L3697V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3697					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)		AACAGCTGGAGTACATCACAT	0.398																																																	0								ENSG00000151835						132	120	124					13																	23906926		2203	4300	6503	SACS	SO:0001583	missense	0			-	HGNC	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.11089C>G	13.37:g.23906926G>C	ENSP00000371729:p.Leu3697Val	Somatic	0	38	0		0.59927724872069	31	24.39	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.L3697V	ENST00000382292.3	37	c.11089	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746567	0.30955	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.12;-2.27;-2.12	5.8	2.64	0.31445	.	0.124501	0.52532	D	0.000079	T	0.64962	0.2646	N	0.08118	0	0.24694	N	0.993294	B	0.06786	0.001	B	0.06405	0.002	T	0.50816	-0.8783	10	0.06494	T	0.89	.	2.5292	0.04698	0.1106:0.1555:0.4173:0.3165	.	3697	Q9NZJ4	SACS_HUMAN	V	3697;2947;3697	ENSP00000371729:L3697V;ENSP00000385844:L2947V;ENSP00000371735:L3697V	ENSP00000371729:L3697V	L	-	1	0	SACS	22804926	1.000000	0.71417	0.459000	0.27081	0.610000	0.37248	3.472000	0.53114	0.759000	0.33084	0.563000	0.77884	CTC	-	NULL		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	G	NM_014363	-		23906926	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	SNP	0.713	C	C	23906926	G	C	23906926	3	2	141	1	0	0	0	0	1	0	0	0	13812	1029	36	4	2654	4	SACS	13	23906926	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		23906926	91262952	26	10559											
TPT1	7178	genome.wustl.edu	37	chr13	45912841	45912841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaagaaaatcatatatgggGtcacaccatcctcacggtag	8	9	3	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr13:45912841G>T	ENST00000530705.1	-	5	770	c.470C>A	c.(469-471)aCc>aAc	p.T157N	TPT1_ENST00000309246.5_Missense_Mutation_p.T157N|TPT1_ENST00000379060.4_Missense_Mutation_p.T145N|TPT1-AS1_ENST00000412946.2_RNA|TPT1_ENST00000379055.1_Missense_Mutation_p.T123N|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|SNORA31_ENST00000517242.1_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379056.1_Missense_Mutation_p.T123N|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1-AS1_ENST00000521336.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	157					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CATATATGGGGTCACACCATC	0.338																																																	0								ENSG00000133112						75	71	72					13																	45912841		2203	4300	6503	TPT1	SO:0001583	missense	0			-	HGNC	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.470C>A	13.37:g.45912841G>T	ENSP00000431872:p.Thr157Asn	Somatic	0	43	0		0.59927724872069	22151	0.18	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Missense_Mutation	SNP							pfam_Translational_control_tumour_p,superfamily_Mss4-like,prints_Translational_control_tumour_p	p.T157N	ENST00000530705.1	37	c.470	CCDS9397.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.6|22.6	4.317647|4.317647	0.81469|0.81469	.|.	.|.	ENSG00000133112|ENSG00000133112	ENST00000528619;ENST00000530245|ENST00000379056;ENST00000530705;ENST00000379060;ENST00000379055;ENST00000309246;ENST00000527226	.|T;T;T;T;T;T	.|0.49139	.|0.79;0.79;0.79;0.79;0.79;0.79	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58481|0.58481	0.2125|0.2125	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.35655	.|0.207	T|T	0.63395|0.63395	-0.6647|-0.6647	5|10	.|0.66056	.|D	.|0.02	.|.	16.6908|16.6908	0.85321|0.85321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|157	.|P13693	.|TCTP_HUMAN	E|N	36|123;157;145;123;157;156	.|ENSP00000368345:T123N;ENSP00000431872:T157N;ENSP00000368350:T145N;ENSP00000368344:T123N;ENSP00000339051:T157N;ENSP00000433738:T156N	.|ENSP00000339051:T157N	D|T	-|-	3|2	2|0	TPT1|TPT1	44810841|44810841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.505000|9.505000	0.97989|0.97989	2.241000|2.241000	0.73720|0.73720	0.650000|0.650000	0.86243|0.86243	GAC|ACC	-	pfam_Translational_control_tumour_p,superfamily_Mss4-like		0.338	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPT1	protein_coding	OTTHUMT00000044758.3	G		-		45912841	-1	no_errors	ENST00000530705	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45912841	G	T	45912841	3	4	141	1	0	0	0	0	1	0	0	0	16436	1261	44	3	56	3	TPT1	13	45912841	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	22005915	45912841	69257037	27	10560											
ING1	3621	genome.wustl.edu	37	chr13	111371715	111371715	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacgagaagatccagatcgtGagccagatggtggagctggt	16	7	0	5			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr13:111371715G>T	ENST00000375774.3	+	2	1167	c.705G>T	c.(703-705)gtG>gtT	p.V235V	ING1_ENST00000338450.7_Silent_p.V48V|ING1_ENST00000333219.7_Silent_p.V92V|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000375775.3_Silent_p.V23V	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	235					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCAGATCGTGAGCCAGATGG	0.672																																																	0								ENSG00000153487						48	59	55					13																	111371715		2203	4299	6502	ING1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.705G>T	13.37:g.111371715G>T		Somatic	0	73	0		0.59927724872069	80	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V235	ENST00000375774.3	37	c.705	CCDS9517.1	13																																																																																			-	NULL		0.672	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	protein_coding	OTTHUMT00000045770.2	G	NM_005537	-		111371715	1	no_errors	ENST00000375774	ensembl	human	known	74_37	silent	SNP	0.688	T	T	111371715	G	T	111371715	2	4	141	1	0	0	0	0	0	0	0	1	7737	1277	45	3		3	ING1	13	111371715	Silent	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	65458874	111371715	3798163	28	10561											
MARK3	4140	genome.wustl.edu	37	chr14	103946821	103946821	+	Frame_Shift_Del	DEL	A	A	-													agtgattcagaatggcaaagAaaacaggtaggagattctac							TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr14:103946821delA	ENST00000429436.2	+	14	2090	c.1580delA	c.(1579-1581)gaafs	p.E527fs	MARK3_ENST00000553942.1_Frame_Shift_Del_p.E527fs|MARK3_ENST00000303622.9_Frame_Shift_Del_p.E527fs|MARK3_ENST00000335102.5_Frame_Shift_Del_p.E550fs|MARK3_ENST00000216288.7_Frame_Shift_Del_p.E511fs|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Frame_Shift_Del_p.E550fs|MARK3_ENST00000440884.3_Frame_Shift_Del_p.E448fs	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	527						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AATGGCAAAGAAAACAGGTAG	0.363																																																	0								ENSG00000075413						122	120	121					14																	103946821		1844	4097	5941	MARK3	SO:0001589	frameshift_variant	0				HGNC	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1580delA	14.37:g.103946821delA	ENSP00000411397:p.Glu527fs	Somatic	0	32	0		0.59927724872069	106	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N528fs	ENST00000429436.2	37	c.1580	CCDS45165.1	14																																																																																			-	NULL		0.363	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	protein_coding	OTTHUMT00000415144.1	A	NM_001128918			103946821	1	no_errors	ENST00000429436	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	103946821	A	-	103946821	7	5	141	1	0	1	0	1	0	0	0	0	9316	246	9	0	1634	0	MARK3	14	103946821	Frame_Shift_Del	DEL	A	TCGA-FX-A76Y-01A-11D-A351-09		103946821	3402719	29	10562											
TLE3	7090	genome.wustl.edu	37	chr15	70346883	70346883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggccagggcataacaggcggGagccgaggacgtcagctcgg	18	11	1	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr15:70346883G>T	ENST00000558939.1	-	16	3106	c.1729C>A	c.(1729-1731)Ccc>Acc	p.P577T	TLE3_ENST00000440567.3_Missense_Mutation_p.P567T|TLE3_ENST00000560939.1_Missense_Mutation_p.P579T|TLE3_ENST00000557907.1_Missense_Mutation_p.P569T|TLE3_ENST00000559191.1_Missense_Mutation_p.P158T|TLE3_ENST00000558201.1_Missense_Mutation_p.P583T|TLE3_ENST00000559929.1_Missense_Mutation_p.P587T|TLE3_ENST00000557997.1_Missense_Mutation_p.P569T|TLE3_ENST00000539550.1_Missense_Mutation_p.P504T|TLE3_ENST00000559048.1_Missense_Mutation_p.P577T|TLE3_ENST00000560589.1_Missense_Mutation_p.P521T|TLE3_ENST00000317509.8_Missense_Mutation_p.P565T|TLE3_ENST00000442299.2_Missense_Mutation_p.P569T|TLE3_ENST00000558379.1_Missense_Mutation_p.P572T|TLE3_ENST00000451782.2_Missense_Mutation_p.P574T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	577					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAACAGGCGGGAGCCGAGGAC	0.657																																																	0								ENSG00000140332						41	45	44					15																	70346883		2192	4296	6488	TLE3	SO:0001583	missense	0			-	HGNC	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1729C>A	15.37:g.70346883G>T	ENSP00000452871:p.Pro577Thr	Somatic	0	33	0		0.59927724872069	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP							pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.P577T	ENST00000558939.1	37	c.1729	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842898	0.71488	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.83	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.119998	0.64402	D	0.000019	T	0.66733	0.2819	L	0.37850	1.14	0.80722	D	1	D;D;D;D;D;P;D;P	0.76494	0.999;0.999;0.992;0.998;0.999;0.926;0.999;0.909	D;D;P;D;D;P;D;P	0.91635	0.986;0.994;0.882;0.986;0.999;0.783;0.998;0.741	T	0.69135	-0.5225	10	0.56958	D	0.05	0.8461	14.5753	0.68243	0.0:0.1473:0.8527:0.0	.	567;574;569;572;565;577;577;504	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	T	569;574;577;567;504	ENSP00000390007:P569T;ENSP00000394717:P574T;ENSP00000415057:P567T;ENSP00000442594:P504T	ENSP00000319233:P577T	P	-	1	0	TLE3	68133937	1.000000	0.71417	0.111000	0.21465	0.873000	0.50193	9.530000	0.98051	1.203000	0.43233	0.462000	0.41574	CCC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	protein_coding	OTTHUMT00000416913.1	G	NM_005078	-		70346883	-1	no_errors	ENST00000558939	ensembl	human	known	74_37	missense	SNP	0.996	T	T	70346883	G	T	70346883	3	4	141	1	0	0	0	0	1	0	0	0	15947	1174	41	3	609	3	TLE3	15	70346883	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		70346883	32184509	30	10563											
FANCI	55215	genome.wustl.edu	37	chr15	89804832	89804832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaggctcaccattttccagGaccattattggttgaattag	8	8	1	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr15:89804832G>T	ENST00000310775.7	+	5	391	c.305G>T	c.(304-306)gGa>gTa	p.G102V	FANCI_ENST00000300027.8_Missense_Mutation_p.G102V|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.G102V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	102					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)			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)					CATTTTCCAGGACCATTATTG	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0								ENSG00000140525						179	179	179					15																	89804832		2200	4299	6499	FANCI	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	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.305G>T	15.37:g.89804832G>T	ENSP00000310842:p.Gly102Val	Somatic	0	53	0		0.59927724872069	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP							NULL	p.G102V	ENST00000310775.7	37	c.305	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	15.01	2.704859	0.48412	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.44881	0.91;0.91;0.91	5.27	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.68317	2.08	0.80722	D	1	P;D	0.89917	0.524;1.0	P;D	0.80764	0.502;0.994	T	0.67925	-0.5544	10	0.66056	D	0.02	-18.6158	16.181	0.81898	0.0:0.1332:0.8668:0.0	.	102;102	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	V	102	ENSP00000300027:G102V;ENSP00000310842:G102V;ENSP00000413249:G102V	ENSP00000300027:G102V	G	+	2	0	FANCI	87605836	1.000000	0.71417	0.933000	0.37362	0.863000	0.49368	4.710000	0.61873	1.459000	0.47892	-0.150000	0.13652	GGA	-	NULL		0.358	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	protein_coding	OTTHUMT00000421140.1	G	NM_018193	-		89804832	1	no_errors	ENST00000310775	ensembl	human	known	74_37	missense	SNP	0.997	T	T	89804832	G	T	89804832	3	4	141	1	0	0	0	0	1	0	0	0	5671	1174	41	3	319	3	FANCI	15	89804832	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	19457949	89804832	12726560	31	10564											
UMOD	7369	genome.wustl.edu	37	chr16	20357585	20357585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaagcccagactcttcaGctggcacttgcccagcgaca	10	15	2	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr16:20357585G>T	ENST00000570689.1	-	5	1191	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	UMOD_ENST00000396138.4_Missense_Mutation_p.L398M|UMOD_ENST00000424589.1_Missense_Mutation_p.L382M|UMOD_ENST00000396134.2_Missense_Mutation_p.L382M|UMOD_ENST00000396142.2_Missense_Mutation_p.L349M|UMOD_ENST00000302509.4_Missense_Mutation_p.L349M			P07911	UROM_HUMAN	uromodulin	349	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.L349M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGACTCTTCAGCTGGCACTTG	0.557																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000169344						91	84	86					16																	20357585		2203	4300	6503	UMOD	SO:0001583	missense	0			-	HGNC	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1045C>A	16.37:g.20357585G>T	ENSP00000460548:p.Leu349Met	Somatic	0	42	0		0.59927724872069	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP							pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.L382M	ENST00000570689.1	37	c.1144	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343986	0.61073	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	4.68	3.72	0.42706	Zona pellucida sperm-binding protein (3);	0.000000	0.37530	N	0.002056	D	0.91002	0.7170	M	0.86178	2.8	0.33786	D	0.624854	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94094	0.7356	10	0.66056	D	0.02	-7.2891	12.7381	0.57236	0.0:0.1666:0.8334:0.0	.	382;349	E9PEA4;P07911	.;UROM_HUMAN	M	349;382;382;349;327;349	ENSP00000379438:L382M;ENSP00000416346:L382M;ENSP00000306279:L349M;ENSP00000379446:L349M	ENSP00000306279:L349M	L	-	1	2	UMOD	20265086	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.077000	0.50089	0.925000	0.37094	0.313000	0.20887	CTG	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.557	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	protein_coding	OTTHUMT00000436862.1	G		-		20357585	-1	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20357585	G	T	20357585	3	4	141	1	0	0	0	0	1	0	0	0	16986	962	34	3	905	3	UMOD	16	20357585	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		20357585	69997168	32	10565											
N4BP1	9683	genome.wustl.edu	37	chr16	48594851	48594851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaccgaaggtaacagctggGgcagtggcattggtggagaa	16	6	0	1			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr16:48594851G>T	ENST00000262384.3	-	2	1939	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	568					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)				TAACAGCTGGGGCAGTGGCAT	0.433																																																	0								ENSG00000102921						122	121	122					16																	48594851		1936	4138	6074	N4BP1	SO:0001583	missense	0			-	HGNC	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.1703C>A	16.37:g.48594851G>T	ENSP00000262384:p.Pro568His	Somatic	0	53	0		0.59927724872069	38	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A7MD49|Q2YDX1	Missense_Mutation	SNP							pfam_RNase_Zc3h12	p.P568H	ENST00000262384.3	37	c.1703	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156533	0.21454	.	.	ENSG00000102921	ENST00000262384	T	0.44482	0.92	5.95	3.89	0.44902	.	0.302414	0.30979	N	0.008481	T	0.36468	0.0968	L	0.29908	0.895	0.20703	N	0.999862	D	0.53151	0.958	P	0.50791	0.65	T	0.10776	-1.0615	10	0.38643	T	0.18	-7.8216	7.7542	0.28915	0.14:0.1347:0.7252:0.0	.	568	O75113	N4BP1_HUMAN	H	568	ENSP00000262384:P568H	ENSP00000262384:P568H	P	-	2	0	N4BP1	47152352	0.988000	0.35896	0.031000	0.17742	0.492000	0.33523	3.570000	0.53834	1.528000	0.49103	0.491000	0.48974	CCC	-	NULL		0.433	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	protein_coding	OTTHUMT00000429920.1	G	NM_014664	-		48594851	-1	no_errors	ENST00000262384	ensembl	human	known	74_37	missense	SNP	0.257	T	T	48594851	G	T	48594851	3	4	141	1	0	0	0	0	1	0	0	0	10111	1232	43	3	1011	3	N4BP1	16	48594851	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	28237266	48594851	41759902	33	10566											
ABCA10	10349	genome.wustl.edu	37	chr17	67215820	67215820	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaaatgaaaccattcattCataatttctcccttagaaat	3	8	3	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr17:67215820C>T	ENST00000269081.4	-	7	1305	c.396G>A	c.(394-396)atG>atA	p.M132I	ABCA10_ENST00000432313.2_Missense_Mutation_p.M132I|ABCA10_ENST00000416101.2_Missense_Mutation_p.M132I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	132					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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)					ACCATTCATTCATAATTTCTC	0.303																																																	0								ENSG00000154263						70	74	72					17																	67215820		2202	4294	6496	ABCA10	SO:0001583	missense	0			-	HGNC	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.396G>A	17.37:g.67215820C>T	ENSP00000269081:p.Met132Ile	Somatic	0	41	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.M132I	ENST00000269081.4	37	c.396	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104416	0.08731	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.86497	-2.13;-2.13;-2.13	3.73	-3.28	0.05033	.	0.765734	0.10367	N	0.683315	T	0.59115	0.2170	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.53472	-0.8434	10	0.21014	T	0.42	.	4.7907	0.13247	0.0:0.308:0.2984:0.3936	.	132;132	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	I	132	ENSP00000269081:M132I;ENSP00000407772:M132I;ENSP00000387674:M132I	ENSP00000269081:M132I	M	-	3	0	ABCA10	64727415	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.202000	0.09451	-0.589000	0.05874	-1.205000	0.01647	ATG	-	NULL		0.303	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	protein_coding	OTTHUMT00000379881.4	C	NM_080282	-		67215820	-1	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	SNP	0.000	T	T	67215820	C	T	67215820	3	4	141	1	0	0	0	0	1	0	0	0	29	826	29	2	4371	2	ABCA10	17	67215820	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09		67215820	13979390	34	10567											
LAMA1	284217	genome.wustl.edu	37	chr18	7050762	7050762	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcatcatcagccctgtaGgtgggtggccctcgtcttgg	12	12	4	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr18:7050762G>T	ENST00000389658.3	-	4	612	c.519C>A	c.(517-519)acC>acA	p.T173T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	173	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)				CAGCCCTGTAGGTGGGTGGCC	0.522																																																	0								ENSG00000101680						124	102	110					18																	7050762		2203	4300	6503	LAMA1	SO:0001819	synonymous_variant	0			-	HGNC	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.519C>A	18.37:g.7050762G>T		Somatic	0	85	0		0.59927724872069	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	41	39.71		Silent	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T173	ENST00000389658.3	37	c.519	CCDS32787.1	18																																																																																			-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559	-		7050762	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	SNP	0.000	T	T	7050762	G	T	7050762	2	4	141	1	0	0	0	0	0	0	0	1	8607	987	35	3		3	LAMA1	18	7050762	Silent	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		7050762	71026486	35	10568											
PRKACA	5566	genome.wustl.edu	37	chr19	14211650	14211650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttacctgaaccttccgAtccgccgtaggtgtgagaac	10	14	0	2			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr19:14211650A>T	ENST00000308677.4	-	5	603	c.407T>A	c.(406-408)aTc>aAc	p.I136N	PRKACA_ENST00000589994.1_Missense_Mutation_p.I128N|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GAACCTTCCGATCCGCCGTAG	0.602																																																	0								ENSG00000072062						109	82	91					19																	14211650		2203	4300	6503	PRKACA	SO:0001583	missense	0			-	HGNC		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.407T>A	19.37:g.14211650A>T	ENSP00000309591:p.Ile136Asn	Somatic	0	69	0		0.59927724872069	437	0.9	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	58	10.77	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I136N	ENST00000308677.4	37	c.407	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	A	7.001	0.554839	0.13436	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.63096	-0.02	4.93	4.93	0.64822	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	0.47093	D	0.000248	T	0.37265	0.0997	N	0.03154	-0.405	0.52501	D	0.99995	B;B;B;B	0.10296	0.002;0.003;0.0;0.002	B;B;B;B	0.17433	0.008;0.008;0.01;0.018	T	0.23762	-1.0179	10	0.18276	T	0.48	.	12.5745	0.56355	1.0:0.0:0.0:0.0	.	78;119;136;128	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	N	136;128;136;78	ENSP00000309591:I136N	ENSP00000309591:I136N	I	-	2	0	PRKACA	14072650	1.000000	0.71417	0.974000	0.42286	0.139000	0.21198	9.217000	0.95160	1.878000	0.54408	0.378000	0.23410	ATC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	protein_coding	OTTHUMT00000459004.1	A	NM_002730	-		14211650	-1	no_errors	ENST00000308677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14211650	A	T	14211650	3	4	141	1	0	0	0	0	1	0	0	0	12502	333	12	5	672	5	PRKACA	19	14211650	Missense_Mutation	SNP	A	TCGA-FX-A76Y-01A-11D-A351-09		14211650	44917333	36	10569											
SNAI1	6615	genome.wustl.edu	37	chr20	48600585	48600585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaaaggctcccagcccCccagcccaccctcaccggct	10	20	1	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr20:48600585C>A	ENST00000244050.2	+	2	368	c.307C>A	c.(307-309)Ccc>Acc	p.P103T		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	103	Ser-rich.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|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 (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|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 regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTCCCAGCCCCCCAGCCCACC	0.642																																																	0								ENSG00000124216						51	61	58					20																	48600585		2203	4300	6503	SNAI1	SO:0001583	missense	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.307C>A	20.37:g.48600585C>A	ENSP00000244050:p.Pro103Thr	Somatic	0	29	0		0.59927724872069	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P103T	ENST00000244050.2	37	c.307	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537358	0.85812	.	.	ENSG00000124216	ENST00000244050	T	0.23348	1.91	4.62	4.62	0.57501	.	0.117965	0.64402	D	0.000013	T	0.45637	0.1352	L	0.50333	1.59	0.53005	D	0.999966	D	0.89917	1.0	D	0.66716	0.946	T	0.47407	-0.9120	10	0.87932	D	0	-35.2263	17.8227	0.88655	0.0:1.0:0.0:0.0	.	103	O95863	SNAI1_HUMAN	T	103	ENSP00000244050:P103T	ENSP00000244050:P103T	P	+	1	0	SNAI1	48033992	0.996000	0.38824	0.992000	0.48379	0.945000	0.59286	4.029000	0.57253	2.281000	0.76405	0.557000	0.71058	CCC	-	NULL		0.642	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	C		-		48600585	1	no_errors	ENST00000244050	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48600585	C	A	48600585	3	1	141	1	0	0	0	0	1	0	0	0	14834	623	22	3	313	3	SNAI1	20	48600585	Missense_Mutation	SNP	C	TCGA-FX-A76Y-01A-11D-A351-09		48600585	14424935	37	10570											
PRPF6	57473	genome.wustl.edu	37	chr20	62642677	62642677	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagacctatgaaaatGcccgcaaggtcttgaacaag	12	9	1	3			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr20:62642677G>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.A449S|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTATGAAAATGCCCGCAAGGT	0.567																																																	0								ENSG00000101161						71	66	68					20																	62642677		2203	4300	6503	PRPF6	SO:0001627	intron_variant	0			-	HGNC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+37380C>A	20.37:g.62642677G>T		Somatic	0	60	0		0.59927724872069	243	0.41	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q08AK9|Q9ULM4	Missense_Mutation	SNP							pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.A449S	ENST00000450537.1	37	c.1345	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519346	0.85495	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.47869	0.83;0.83	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.85542	2.76	0.80722	D	1	P;B	0.36837	0.571;0.216	P;B	0.44732	0.459;0.437	T	0.66260	-0.5968	10	0.45353	T	0.12	.	19.2933	0.94112	0.0:0.0:1.0:0.0	.	449;449	O94906-2;O94906	.;PRP6_HUMAN	S	449	ENSP00000266079:A449S;ENSP00000446216:A449S	ENSP00000266079:A449S	A	+	1	0	PRPF6	62113121	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.220000	0.95180	2.563000	0.86464	0.609000	0.83330	GCC	-	smart_HAT		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	protein_coding	OTTHUMT00000080246.1	G	NM_020713	-		62642677	1	no_errors	ENST00000266079	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62642677	G	T	62642677	1	4	141	0	1	0	0	0	0	0	0	0	12579	1319	46	3		3	PRPF6	20	62642677	Intron	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09	14042092	62642677	382843	38	10571											
HSPA13	6782	genome.wustl.edu	37	chr21	15750522	15750522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcaagggtactgttacctGcaaggttagcagcttcaatt	10	8	2	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr21:15750522G>T	ENST00000285667.3	-	3	645	c.578C>A	c.(577-579)gCa>gAa	p.A193E	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	193						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						ACTGTTACCTGCAAGGTTAGC	0.403																																																	0								ENSG00000155304						74	67	69					21																	15750522		2203	4300	6503	HSPA13	SO:0001583	missense	0			-	HGNC		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.578C>A	21.37:g.15750522G>T	ENSP00000285667:p.Ala193Glu	Somatic	0	46	0		0.59927724872069	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R616|Q8NE40	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A193E	ENST00000285667.3	37	c.578	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	G	31	5.073202	0.94000	.	.	ENSG00000155304	ENST00000285667	T	0.02067	4.47	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49995	-0.8879	10	0.87932	D	0	-18.3453	19.6378	0.95744	0.0:0.0:1.0:0.0	.	193	P48723	HSP13_HUMAN	E	193	ENSP00000285667:A193E	ENSP00000285667:A193E	A	-	2	0	HSPA13	14672393	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.252000	0.95491	2.631000	0.89168	0.655000	0.94253	GCA	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.403	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	protein_coding	OTTHUMT00000157815.1	G		-		15750522	-1	no_errors	ENST00000285667	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15750522	G	T	15750522	3	4	141	1	0	0	0	0	1	0	0	0	7408	1319	46	3	849	3	HSPA13	21	15750522	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		15750522	32379373	39	10572											
PRODH	5625	genome.wustl.edu	37	chr22	18904407	18904407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggcacacctacctgcGcagtgcaaagcgcactgtgt	14	12	0	0			TCGA-FX-A76Y-01A-11D-A351-09	TCGA-FX-A76Y-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b20604a-cda0-4e4e-b0fa-a37129cdef5e	ba44c28e-2e23-4deb-b9d5-ea07f07e8d79	g.chr22:18904407G>A	ENST00000357068.6	-	12	1787	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	PRODH_ENST00000420436.1_Missense_Mutation_p.R400C|PRODH_ENST00000334029.2_Missense_Mutation_p.R400C	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	508					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ACCTACCTGCGCAGTGCAAAG	0.637																																																	0								ENSG00000100033						102	57	72					22																	18904407		2203	4297	6500	PRODH	SO:0001583	missense	0			-	HGNC	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.1522C>T	22.37:g.18904407G>A	ENSP00000349577:p.Arg508Cys	Somatic	0	49	0		0.59927724872069	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP							pfam_Proline_DH	p.R508C	ENST00000357068.6	37	c.1522	CCDS13754.1	22	.	.	.	.	.	.	.	.	.	.	g	7.471	0.646598	0.14516	.	.	ENSG00000100033	ENST00000357068;ENST00000313755	T	0.35236	1.32	4.43	-5.63	0.02474	Proline dehydrogenase (1);	0.824595	0.11311	N	0.577137	T	0.25005	0.0607	L	0.61036	1.89	0.09310	N	0.999998	B;B;B	0.21905	0.062;0.058;0.031	B;B;B	0.17098	0.006;0.017;0.01	T	0.31223	-0.9951	10	0.45353	T	0.12	.	1.332	0.02137	0.1848:0.1418:0.2172:0.4563	.	424;508;400	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	C	508;153	ENSP00000349577:R508C	ENSP00000318329:R153C	R	-	1	0	PRODH	17284407	0.000000	0.05858	0.013000	0.15412	0.039000	0.13416	0.238000	0.18004	-1.000000	0.03438	-0.465000	0.05216	CGC	-	pfam_Proline_DH		0.637	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	protein_coding	OTTHUMT00000316637.2	G	NM_016335	-		18904407	-1	no_errors	ENST00000357068	ensembl	human	known	74_37	missense	SNP	0.031	A	A	18904407	G	A	18904407	3	1	141	1	0	0	0	0	1	0	0	0	12553	1087	38	1	292	1	PRODH	22	18904407	Missense_Mutation	SNP	G	TCGA-FX-A76Y-01A-11D-A351-09		18904407	32400159	40	10573											
RCC1	1104	genome.wustl.edu	37	chr1	28858479	28858479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgggggcatgcacaccGtgtgtctaagcaaaagtggc	15	9	1	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:28858479G>T	ENST00000373833.6	+	6	523	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	RCC1_ENST00000373832.1_Missense_Mutation_p.V80L|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.V80L|RCC1_ENST00000373831.3_Missense_Mutation_p.V111L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	80					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCACACCGTGTGTCTAAG	0.607																																																	0								ENSG00000180198						58	59	59					1																	28858479		2203	4300	6503	RCC1	SO:0001583	missense	0			-	HGNC	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.238G>T	1.37:g.28858479G>T	ENSP00000362939:p.Val80Leu	Somatic	0	63	0		0.531992557693908	65	47.15	58	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	38	39.68	Q16269|Q6NT97	Missense_Mutation	SNP							pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V111L	ENST00000373833.6	37	c.331	CCDS323.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278594	0.59758	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.86	5.86	0.93980	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.81389	0.4812	N	0.11255	0.115	0.80722	D	1	B;D;D	0.58268	0.024;0.969;0.982	B;P;P	0.54499	0.044;0.754;0.754	T	0.81061	-0.1103	10	0.30078	T	0.28	-15.316	16.9762	0.86313	0.0:0.0:1.0:0.0	.	111;97;80	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	L	80;80;88;80;80;80;111;97;80	ENSP00000381931:V80L;ENSP00000402740:V80L;ENSP00000405258:V88L;ENSP00000362939:V80L;ENSP00000402260:V80L;ENSP00000362938:V80L;ENSP00000362937:V111L;ENSP00000413644:V97L;ENSP00000394650:V80L	ENSP00000362937:V111L	V	+	1	0	RCC1	28731066	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	9.324000	0.96373	2.784000	0.95788	0.650000	0.86243	GTG	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	protein_coding	OTTHUMT00000010323.3	G	NM_001269	-		28858479	1	no_errors	ENST00000373831	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28858479	G	T	28858479	3	4	142	1	0	0	0	0	1	0	0	0	13181	1145	40	3	341	3	RCC1	1	28858479	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09		28858479	220392142	1	10574											
HRNR	388697	genome.wustl.edu	37	chr1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactcatgttgaccaaagAcagaagagtgacccgagcga	11	10	1	6	rs145667921		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																																	0								ENSG00000197915						1	1	1					1																	152188847		388	960	1348	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala	Somatic	0	18	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.V1753A	ENST00000368801.2	37	c.5258	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	-	NULL		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	A	XM_373868	rs145667921		152188847	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.002	G	G	152188847	A	G	152188847	3	3	142	1	0	0	0	0	1	0	0	0	7361	275	10	5	3298	5	HRNR	1	152188847	Missense_Mutation	SNP	A	TCGA-FX-A8OO-01A-11D-A36J-09	123330368	152188847	97061774	2	10575											
ASPM	259266	genome.wustl.edu	37	chr1	197071130	197071130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccagtaatgatctaaaCctactctgaataagggttgc	7	10	3	2			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:197071130C>A	ENST00000367409.4	-	18	7507	c.7251G>T	c.(7249-7251)agG>agT	p.R2417S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2417	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGATCTAAACCTACTCTGAA	0.393																																																	0								ENSG00000066279						112	115	114					1																	197071130		2203	4299	6502	ASPM	SO:0001583	missense	0			-	HGNC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7251G>T	1.37:g.197071130C>A	ENSP00000356379:p.Arg2417Ser	Somatic	0	54	0		0.531992557693908	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	25	68.35	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2417S	ENST00000367409.4	37	c.7251	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	8.424	0.847121	0.17034	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72167	-0.63	4.13	0.467	0.16721	.	0.722320	0.13128	N	0.411644	T	0.73426	0.3585	L	0.60012	1.86	0.80722	D	1	P;B	0.49358	0.923;0.236	D;B	0.69824	0.966;0.349	T	0.68981	-0.5266	10	0.22109	T	0.4	.	1.3491	0.02169	0.1437:0.3672:0.142:0.347	.	403;2417	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2417;403	ENSP00000356379:R2417S	ENSP00000356376:R403S	R	-	3	2	ASPM	195337753	0.000000	0.05858	0.131000	0.22000	0.994000	0.84299	-0.457000	0.06745	0.341000	0.23771	0.558000	0.71614	AGG	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	protein_coding	OTTHUMT00000088256.1	C	NM_018136	-		197071130	-1	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	SNP	0.022	A	A	197071130	C	A	197071130	3	1	142	1	0	0	0	0	1	0	0	0	1056	506	18	3	3226	3	ASPM	1	197071130	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09	44882283	197071130	52179491	3	10576											
OR2T35	403244	genome.wustl.edu	37	chr1	248801945	248801951	+	Frame_Shift_Del	DEL	CAGCACG	CAGCACG	-													gatagagggataagcagcatCagcacgcagcaggcatacat					rs143010547|rs112397726	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	CAGCACG	CAGCACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:248801945_248801951delCAGCACG	ENST00000317450.3	-	1	608_614	c.609_615delCGTGCTG	c.(607-615)tgcgtgctgfs	p.CVL203fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	203						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(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCAGCATCAGCACGCAGCAGGCAT	0.527																																																	0								ENSG00000177151																																			OR2T35	SO:0001589	frameshift_variant	0				HGNC	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.609_615delCGTGCTG	1.37:g.248801945_248801951delCAGCACG	ENSP00000324369:p.Cys203fs	Somatic					0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6IEY7	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C203fs	ENST00000317450.3	37	c.615_609	CCDS31123.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T35	protein_coding	OTTHUMT00000097130.1	CAGCACG	NM_001001827			248801951	-1	no_errors	ENST00000317450	ensembl	human	known	74_37	frame_shift_del	DEL	0.008:0.060:0.023:0.016:0.015:0.015:0.006	-	-	248801951	CAGCACG	-	248801945	7	5	142	1	0	1	0	1	0	0	0	0	11028	813	29	0	360	0	OR2T35	1	248801945	Frame_Shift_Del	DEL	CAGCACG	TCGA-FX-A8OO-01A-11D-A36J-09	51730815	248801945	448676	4	10577											
OTOF	9381	genome.wustl.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155		,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				OTOF	SO:0001651	inframe_deletion	0				HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del	Somatic	0	19	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K1310in_frame_del	ENST00000272371.2	37	c.3930_3928	CCDS1725.1	2																																																																																			-	NULL		0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	CTT				26693556	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	in_frame_del	DEL	0.998:1.000:1.000	-	-	26693556	CTT	-	26693554	7	5	142	1	0	1	0	1	0	0	0	0	11305	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FX-A8OO-01A-11D-A36J-09		26693554	216505819	5	10578											
C2orf7	84279	genome.wustl.edu	37	chr2	73455974	73455974	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagctgtgcgctgggtaCtgtcctggatcatctccacg	12	12	3	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr2:73455974C>G	ENST00000258083.2	-	4	462	c.395G>C	c.(394-396)aGt>aCt	p.S132T	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	132	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						GCGCTGGGTACTGTCCTGGAT	0.622																																																	0								ENSG00000135617						43	38	39					2																	73455974		2203	4300	6503	PRADC1	SO:0001583	missense	0			-	HGNC	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.395G>C	2.37:g.73455974C>G	ENSP00000258083:p.Ser132Thr	Somatic	0	53	0		0.531992557693908	41	49.38	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	35	44.44	Q2Z1P2	Missense_Mutation	SNP							pfam_Protease-assoc_domain	p.S132T	ENST00000258083.2	37	c.395	CCDS1924.1	2	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259574	0.39995	.	.	ENSG00000135617	ENST00000258083	T	0.43294	0.95	4.64	4.64	0.57946	Protease-associated domain, PA (1);	0.110172	0.64402	D	0.000007	T	0.38639	0.1048	L	0.54965	1.715	0.42369	D	0.992443	B	0.23650	0.089	B	0.28553	0.091	T	0.28396	-1.0045	10	0.42905	T	0.14	-12.2771	10.2533	0.43381	0.0:0.9077:0.0:0.0923	.	132	Q9BSG0	PADC1_HUMAN	T	132	ENSP00000258083:S132T	ENSP00000258083:S132T	S	-	2	0	PRADC1	73309482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.837000	0.62796	2.576000	0.86940	0.655000	0.94253	AGT	-	pfam_Protease-assoc_domain		0.622	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRADC1	protein_coding	OTTHUMT00000251989.1	C	NM_032319	-		73455974	-1	no_errors	ENST00000258083	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73455974	C	G	73455974	3	3	142	1	0	0	0	0	1	0	0	0	2191	565	20	4	179	4	C2orf7	2	73455974	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09	46762420	73455974	169743399	6	10579											
TTN	7273	genome.wustl.edu	37	chr2	179416435	179416435	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaattttcagcatatacacGgaattggtaatccagacctt	7	8	1	2			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr2:179416435G>C	ENST00000591111.1	-	285	86493	c.86269C>G	c.(86269-86271)Cgt>Ggt	p.R28757G	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21525G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21333G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27830G|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30398G|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21458G|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28757	Fibronectin type-III 109. {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)			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)			GCATATACACGGAATTGGTAA	0.393																																																	0								ENSG00000155657						129	124	125					2																	179416435		1854	4108	5962	TTN	SO:0001583	missense	0			-	HGNC	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.86269C>G	2.37:g.179416435G>C	ENSP00000465570:p.Arg28757Gly	Somatic	0	62	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	35	47.76	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R27830G	ENST00000591111.1	37	c.83488		2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605754	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85600	0.5734	H	0.98833	4.345	0.58432	D	0.999994	D;D;D;D	0.56287	0.975;0.975;0.975;0.975	P;P;P;P	0.60682	0.878;0.878;0.878;0.878	D	0.91056	0.4882	9	0.87932	D	0	.	19.94	0.97155	0.0:0.0:1.0:0.0	.	21333;21458;21525;28757	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	27830;21333;21525;21458;21330	ENSP00000343764:R27830G;ENSP00000434586:R21333G;ENSP00000340554:R21525G;ENSP00000352154:R21458G	ENSP00000340554:R21525G	R	-	1	0	TTN	179124681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.074000	0.76791	2.721000	0.93114	0.650000	0.86243	CGT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179416435	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	C	C	179416435	G	C	179416435	3	2	142	1	0	0	0	0	1	0	0	0	16742	1116	39	4	16899	4	TTN	2	179416435	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	105960461	179416435	63782938	7	10580											
EOMES	8320	genome.wustl.edu	37	chr3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC													ggcggcggcggcggcggcggINSctgcagcggcggagggcagc					rs368178421|rs1874198|rs3062761	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767														2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0								ENSG00000163508			101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				EOMES	SO:0001652	inframe_insertion	0				HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla	Somatic					0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																			-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	-	NM_005442			27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	INS	0.116:0.075	CGGCGC	CGGCGC	27763428	-	CGGCGC	27763427	7	5	142	1	0	1	1	0	0	0	0	0	5149	1203	42	0	1725	0	EOMES	3	27763427	In_Frame_Ins	INS	-	TCGA-FX-A8OO-01A-11D-A36J-09		27763427	170259003	8	10581											
LRRFIP2	9209	genome.wustl.edu	37	chr3	37096646	37096646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtattcgctaatttgtctAttggcatctcctagaacaga	7	8	2	2	rs201693185		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:37096646A>G	ENST00000336686.4	-	26	1961	c.1881T>C	c.(1879-1881)aaT>aaC	p.N627N	LRRFIP2_ENST00000440230.1_Silent_p.N330N|LRRFIP2_ENST00000421276.2_Silent_p.N330N|LRRFIP2_ENST00000354379.4_Silent_p.N306N|LRRFIP2_ENST00000421307.1_Silent_p.N627N|LRRFIP2_ENST00000396428.2_Silent_p.N409N|MLH1_ENST00000536378.1_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	627					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TAATTTGTCTATTGGCATCTC	0.388																																																	1	Whole gene deletion(1)	ovary(1)						ENSG00000093167						221	221	221					3																	37096646		2201	4299	6500	LRRFIP2	SO:0001819	synonymous_variant	0			-	HGNC	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1881T>C	3.37:g.37096646A>G		Somatic	0	30	0		0.531992557693908	44	56.44	57	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP							pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.N627	ENST00000336686.4	37	c.1881	CCDS2664.1	3																																																																																			-	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin		0.388	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	protein_coding	OTTHUMT00000253335.3	A	NM_006309	rs201693185		37096646	-1	no_errors	ENST00000336686	ensembl	human	known	74_37	silent	SNP	0.995	G	G	37096646	A	G	37096646	2	3	142	1	0	0	0	0	0	0	0	1	9030	446	16	5		5	LRRFIP2	3	37096646	Silent	SNP	A	TCGA-FX-A8OO-01A-11D-A36J-09	9333219	37096646	160925784	9	10582											
UBA7	7318	genome.wustl.edu	37	chr3	49845842	49845842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaacatcagaggcttcaGgggagggcccacactccaga	11	13	3	2	rs2234386		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:49845842G>T	ENST00000333486.3	-	19	2565	c.2407C>A	c.(2407-2409)Ctg>Atg	p.L803M	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	803					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGAGGCTTCAGGGGAGGGCCC	0.567																																																	0								ENSG00000182179						128	136	133					3																	49845842		2203	4300	6503	UBA7	SO:0001583	missense	0			-	HGNC	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2407C>A	3.37:g.49845842G>T	ENSP00000333266:p.Leu803Met	Somatic	0	41	0		0.531992557693908	65	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q9BRB2	Missense_Mutation	SNP							pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.L803M	ENST00000333486.3	37	c.2407	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399765	0.42512	.	.	ENSG00000182179	ENST00000333486	T	0.44881	0.91	5.22	1.18	0.20946	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.059685	0.64402	D	0.000005	T	0.28234	0.0697	L	0.35723	1.085	0.09310	N	1	P	0.51057	0.941	P	0.45232	0.474	T	0.08806	-1.0704	10	0.28530	T	0.3	-13.8994	3.3046	0.06996	0.2918:0.0:0.5245:0.1837	.	803	P41226	UBA7_HUMAN	M	803	ENSP00000333266:L803M	ENSP00000333266:L803M	L	-	1	2	UBA7	49820846	0.035000	0.19736	0.025000	0.17156	0.381000	0.30169	0.435000	0.21510	0.709000	0.31976	-0.254000	0.11334	CTG	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.567	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	protein_coding	OTTHUMT00000350503.1	G	NM_003335	-		49845842	-1	no_errors	ENST00000333486	ensembl	human	known	74_37	missense	SNP	0.031	T	T	49845842	G	T	49845842	3	4	142	1	0	0	0	0	1	0	0	0	16840	991	35	3	655	3	UBA7	3	49845842	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	12749196	49845842	148176588	10	10583											
STXBP5L	9515	genome.wustl.edu	37	chr3	120941941	120941941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggaaaagcaattacaGtacttgaaatggatcatcct	8	7	1	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:120941941G>T	ENST00000273666.6	+	11	1319	c.1048G>T	c.(1048-1050)Gta>Tta	p.V350L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.V350L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V350L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V350L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V350L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	350					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)		AGCAATTACAGTACTTGAAAT	0.348																																																	0								ENSG00000145087						150	143	145					3																	120941941		1874	4106	5980	STXBP5L	SO:0001583	missense	0			-	HGNC	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.1048G>T	3.37:g.120941941G>T	ENSP00000273666:p.Val350Leu	Somatic	0	35	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	24	48.94	Q4G1B4|Q6PIC3	Missense_Mutation	SNP							pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.V350L	ENST00000273666.6	37	c.1048	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199801	0.79015	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.40756	1.71;1.72;1.52;1.02;1.51;1.72	4.5	4.5	0.54988	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.62723	1.935	0.80722	D	1	B;D	0.71674	0.014;0.998	B;D	0.80764	0.03;0.994	T	0.66280	-0.5963	10	0.62326	D	0.03	-33.7259	17.3968	0.87448	0.0:0.0:1.0:0.0	.	350;350	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	L	350	ENSP00000273666:V350L;ENSP00000420019:V350L;ENSP00000419627:V350L;ENSP00000420287:V350L;ENSP00000420666:V350L;ENSP00000420167:V350L	ENSP00000273666:V350L	V	+	1	0	STXBP5L	122424631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.316000	0.78162	0.462000	0.41574	GTA	-	pfam_LLGL2,superfamily_WD40_repeat_dom		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	protein_coding	OTTHUMT00000355256.3	G		-		120941941	1	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120941941	G	T	120941941	3	4	142	1	0	0	0	0	1	0	0	0	15364	1029	36	3	1086	3	STXBP5L	3	120941941	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	71096099	120941941	77080489	11	10584											
YEATS2	55689	genome.wustl.edu	37	chr3	183495458	183495458	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caacaaacgctaaaagtcatCtctggacagaaaaccacatt	5	11	2	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:183495458C>G	ENST00000305135.5	+	19	2901	c.2706C>G	c.(2704-2706)atC>atG	p.I902M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	902					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)			TAAAAGTCATCTCTGGACAGA	0.438																																																	0								ENSG00000163872						89	86	87					3																	183495458		2062	4224	6286	YEATS2	SO:0001583	missense	0			-	HGNC	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.2706C>G	3.37:g.183495458C>G	ENSP00000306983:p.Ile902Met	Somatic	0	73	0		0.531992557693908	37	42.19	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	42	46.84	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP							pfam_YEATS,pfscan_YEATS	p.I902M	ENST00000305135.5	37	c.2706	CCDS43175.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.55|16.55	3.154720|3.154720	0.57259|0.57259	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000421660;ENST00000305135|ENST00000432781	T|.	0.23348|.	1.91|.	5.68|5.68	3.88|3.88	0.44766|0.44766	.|.	0.063063|.	0.64402|.	D|.	0.000007|.	T|T	0.29556|0.29556	0.0737|0.0737	N|N	0.24115|0.24115	0.695|0.695	0.29492|0.29492	N|N	0.855548|0.855548	D|.	0.67145|.	0.996|.	P|.	0.59703|.	0.862|.	T|T	0.19582|0.19582	-1.0301|-1.0301	10|5	0.72032|.	D|.	0.01|.	-21.8247|-21.8247	6.6736|6.6736	0.23082|0.23082	0.1812:0.6628:0.0:0.156|0.1812:0.6628:0.0:0.156	.|.	902|.	Q9ULM3|.	YETS2_HUMAN|.	M|V	902|88	ENSP00000306983:I902M|.	ENSP00000306983:I902M|.	I|L	+|+	3|1	3|0	YEATS2|YEATS2	184978152|184978152	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	0.557000|0.557000	0.23454|0.23454	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	ATC|CTC	-	NULL		0.438	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	protein_coding	OTTHUMT00000346507.2	C	NM_018023	-		183495458	1	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	SNP	1.000	G	G	183495458	C	G	183495458	3	3	142	1	0	0	0	0	1	0	0	0	17479	903	32	4	2776	4	YEATS2	3	183495458	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09	62553517	183495458	14526972	12	10585											
CXCL5	6374	genome.wustl.edu	37	chr4	74864215	74864217	+	In_Frame_Del	DEL	CAG	CAG	-													gcgatgggccctggctgcgtCagcagcagcagcagcaccaa					rs139966143	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr4:74864215_74864217delCAG	ENST00000296027.4	-	1	279_281	c.82_84delCTG	c.(82-84)ctgdel	p.L28del		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	28					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTGGCTGCGTCAGCAGCAGCAGC	0.7																																																	0								ENSG00000163735			159,4049		24,111,1969						-0.9	0.4			15	307,7843		42,223,3810	no	coding	CXCL5	NM_002994.3		66,334,5779	A1A1,A1R,RR		3.7669,3.7785,3.7708				466,11892				CXCL5	SO:0001651	inframe_deletion	0				HGNC	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"Endogenous ligands"	10642	protein-coding gene	gene with protein product		600324	"small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.82_84delCTG	4.37:g.74864224_74864226delCAG	ENSP00000296027:p.Leu28del	Somatic	0	34	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q96QE1	In_Frame_Del	DEL							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.L28in_frame_del	ENST00000296027.4	37	c.84_82	CCDS34006.1	4																																																																																			-	superfamily_Chemokine_IL8-like_dom		0.7	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL5	protein_coding	OTTHUMT00000362749.1	CAG	NM_002994			74864217	-1	no_errors	ENST00000296027	ensembl	human	known	74_37	in_frame_del	DEL	0.072:0.215:0.363	-	-	74864217	CAG	-	74864215	7	5	142	1	0	1	0	1	0	0	0	0	4089	813	29	0	276	0	CXCL5	4	74864215	In_Frame_Del	DEL	CAG	TCGA-FX-A8OO-01A-11D-A36J-09		74864215	116290061	13	10586											
FBN2	2201	genome.wustl.edu	37	chr5	127713448	127713448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcaatttccataccaaCacagttttttccatctgtag	6	11	1	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr5:127713448C>T	ENST00000508053.1	-	19	2820	c.1846G>A	c.(1846-1848)Gtt>Att	p.V616I	FBN2_ENST00000508989.1_Missense_Mutation_p.V583I|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.V616I			P35556	FBN2_HUMAN	fibrillin 2	616	EGF-like 8; 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)			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)		TCCATACCAACACAGTTTTTT	0.388																																																	0								ENSG00000138829						142	146	144					5																	127713448		2203	4300	6503	FBN2	SO:0001583	missense	0			-	HGNC	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.1846G>A	5.37:g.127713448C>T	ENSP00000424571:p.Val616Ile	Somatic	0	70	0		0.531992557693908	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	B4DU01|Q59ES6	Missense_Mutation	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.V616I	ENST00000508053.1	37	c.1846	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849620	0.32699	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87256	-2.23;-2.23;-2.23	4.21	4.21	0.49690	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000018	D	0.89065	0.6609	L	0.37466	1.105	0.31154	N	0.705108	B;P	0.50156	0.091;0.932	B;P	0.61592	0.079;0.891	D	0.86131	0.1575	10	0.30854	T	0.27	.	17.8845	0.88850	0.0:1.0:0.0:0.0	.	583;616	D6RJI3;P35556	.;FBN2_HUMAN	I	616;616;583	ENSP00000262464:V616I;ENSP00000424571:V616I;ENSP00000425596:V583I	ENSP00000262464:V616I	V	-	1	0	FBN2	127741347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.322000	0.33689	2.648000	0.89879	0.655000	0.94253	GTT	-	pirsf_FBN,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.388	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	C	NM_001999	-		127713448	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127713448	C	T	127713448	3	4	142	1	0	0	0	0	1	0	0	0	5705	478	17	2	7104	2	FBN2	5	127713448	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		127713448	53201812	14	10587											
POU4F3	5459	genome.wustl.edu	37	chr5	145719326	145719326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctcaccacgccgtgcaCcagggcctcgaaggcgacct	10	19	1	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr5:145719326C>T	ENST00000230732.4	+	2	425	c.336C>T	c.(334-336)caC>caT	p.H112H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	112					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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 transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCCGTGCACCAGGGCCTCG	0.662																																																	0								ENSG00000091010						116	101	106					5																	145719326		2203	4299	6502	POU4F3	SO:0001819	synonymous_variant	0			-	HGNC	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.336C>T	5.37:g.145719326C>T		Somatic	0	40	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85	O60557|Q2M3F8	Silent	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.H112	ENST00000230732.4	37	c.336	CCDS4281.1	5																																																																																			-	NULL		0.662	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	protein_coding	OTTHUMT00000251887.2	C	NM_002700	-		145719326	1	no_errors	ENST00000230732	ensembl	human	known	74_37	silent	SNP	1.000	T	T	145719326	C	T	145719326	2	4	142	1	0	0	0	0	0	0	0	1	12282	506	18	2		2	POU4F3	5	145719326	Silent	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09	18005878	145719326	35195934	15	10588											
GPR110	266977	genome.wustl.edu	37	chr6	46991854	46991854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgggagtgctccagccGtgtgaaggtagcagttctgg	16	8	1	1	rs200254260		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr6:46991854G>A	ENST00000371253.2	-	5	592	c.377C>T	c.(376-378)aCg>aTg	p.T126M	GPR110_ENST00000371243.2_Missense_Mutation_p.T126M|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	126					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTCCAGCCGTGTGAAGGTA	0.507													G|||	1	0.000199681	0	0	5008	,	,		19636	0		0.001	False		,,,				2504	0																0								ENSG00000153292						133	107	116					6																	46991854		2203	4300	6503	GPR110	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.377C>T	6.37:g.46991854G>A	ENSP00000360299:p.Thr126Met	Somatic	0	57	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	42.19	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.T126M	ENST00000371253.2	37	c.377	CCDS34471.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.862	-0.029771	0.07589	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.34667	1.35	5.51	-4.45	0.03546	.	0.774716	0.11793	N	0.528966	T	0.07954	0.0199	L	0.53249	1.67	0.23519	N	0.997509	B;B	0.33694	0.421;0.166	B;B	0.21360	0.034;0.007	T	0.13980	-1.0489	10	0.44086	T	0.13	0.2375	0.85	0.01170	0.4025:0.1169:0.2197:0.2609	.	126;126	Q5T601-2;Q5T601	.;GP110_HUMAN	M	126	ENSP00000360299:T126M	ENSP00000360289:T126M	T	-	2	0	GPR110	47099813	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.674000	0.05233	-0.469000	0.06911	-0.140000	0.14226	ACG	-	NULL		0.507	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	protein_coding	OTTHUMT00000040810.2	G	NM_153840	rs200254260		46991854	-1	no_errors	ENST00000371253	ensembl	human	known	74_37	missense	SNP	0.001	A	A	46991854	G	A	46991854	3	1	142	1	0	0	0	0	1	0	0	0	6629	1145	40	1	2449	1	GPR110	6	46991854	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09		46991854	124123213	16	10589											
HIVEP2	3097	genome.wustl.edu	37	chr6	143092151	143092151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaaagagggcttgccaTagctcttctgagggtgctga	13	8	3	4	rs139717578	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr6:143092151T>A	ENST00000367604.1	-	4	4364	c.3725A>T	c.(3724-3726)tAt>tTt	p.Y1242F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.Y1242F|HIVEP2_ENST00000367603.2_Missense_Mutation_p.Y1242F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1242					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)		GGGCTTGCCATAGCTCTTCTG	0.498																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0								ENSG00000010818						135	131	132					6																	143092151		1989	4172	6161	HIVEP2	SO:0001583	missense	0			-	HGNC	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.3725A>T	6.37:g.143092151T>A	ENSP00000356576:p.Tyr1242Phe	Somatic	0	48	0		0.531992557693908	33	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y1242F	ENST00000367604.1	37	c.3725	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203519	0.58234	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02301	4.35;4.35;4.35	5.97	5.97	0.96955	.	0.186013	0.49305	D	0.000155	T	0.03520	0.0101	L	0.41356	1.27	0.45733	D	0.998631	D	0.67145	0.996	P	0.57620	0.824	T	0.54344	-0.8308	10	0.59425	D	0.04	-15.3693	16.4504	0.83984	0.0:0.0:0.0:1.0	.	1242	P31629	ZEP2_HUMAN	F	1242	ENSP00000356576:Y1242F;ENSP00000356575:Y1242F;ENSP00000012134:Y1242F	ENSP00000012134:Y1242F	Y	-	2	0	HIVEP2	143133844	1.000000	0.71417	0.954000	0.39281	0.803000	0.45373	3.937000	0.56575	2.288000	0.76882	0.533000	0.62120	TAT	-	NULL		0.498	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	T		-		143092151	-1	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	SNP	0.987	A	A	143092151	T	A	143092151	3	1	142	1	0	0	0	0	1	0	0	0	7189	1406	49	5	3639	5	HIVEP2	6	143092151	Missense_Mutation	SNP	T	TCGA-FX-A8OO-01A-11D-A36J-09	96100297	143092151	28022916	17	10590											
LOXL2	4017	genome.wustl.edu	37	chr8	23225664	23225664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccacccggccctcgctGtgcttcctcttctgcccagc	7	21	2	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr8:23225664G>A	ENST00000389131.3	-	2	570	c.201C>T	c.(199-201)caC>caT	p.H67H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	67	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGCCCTCGCTGTGCTTCCTCT	0.652																																																	0								ENSG00000134013						73	62	65					8																	23225664		2203	4300	6503	LOXL2	SO:0001819	synonymous_variant	0			-	HGNC	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.201C>T	8.37:g.23225664G>A		Somatic	0	62	0		0.531992557693908	253	43.15	192	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	39	48.00	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP							pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.H67	ENST00000389131.3	37	c.201	CCDS34864.1	8																																																																																			-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	protein_coding	OTTHUMT00000375603.1	G		-		23225664	-1	no_errors	ENST00000389131	ensembl	human	known	74_37	silent	SNP	1.000	A	A	23225664	G	A	23225664	2	1	142	1	0	0	0	0	0	0	0	1	8902	1368	48	2		2	LOXL2	8	23225664	Silent	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09		23225664	123138358	18	10591											
SNTG1	54212	genome.wustl.edu	37	chr8	51415418	51415418	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacctgctttcctcaaactCccattgaatgaagattgtgc	7	12	1	3			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr8:51415418C>A	ENST00000522124.1	+	9	1105	c.444C>A	c.(442-444)ctC>ctA	p.L148L	SNTG1_ENST00000517473.1_Silent_p.L148L|SNTG1_ENST00000518864.1_Silent_p.L148L|SNTG1_ENST00000276467.5_Silent_p.L148L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	148					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCCTCAAACTCCCATTGAATG	0.318																																																	0								ENSG00000147481						68	65	66					8																	51415418		2203	4300	6503	SNTG1	SO:0001819	synonymous_variant	0			-	HGNC	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.444C>A	8.37:g.51415418C>A		Somatic	0	40	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q2M3Q0|Q9NY98	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.L148	ENST00000522124.1	37	c.444	CCDS6147.1	8																																																																																			-	NULL		0.318	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	C		-		51415418	1	no_errors	ENST00000518864	ensembl	human	known	74_37	silent	SNP	0.938	A	A	51415418	C	A	51415418	2	1	142	1	0	0	0	0	0	0	0	1	14882	842	30	3		3	SNTG1	8	51415418	Silent	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09	28189754	51415418	94948604	19	10592											
CYP11B1	1584	genome.wustl.edu	37	chr8	143961100	143961100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacctgttgcctggacGccggggcatggcttcaaagg	14	13	1	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr8:143961100G>A	ENST00000292427.4	-	1	162	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R44C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R44C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	44					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TTGCCTGGACGCCGGGGCATG	0.647									Familial Hyperaldosteronism type I																																								0								ENSG00000160882						65	61	63					8																	143961100		2203	4300	6503	CYP11B1	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.130C>T	8.37:g.143961100G>A	ENSP00000292427:p.Arg44Cys	Somatic	0	41	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.R44C	ENST00000292427.4	37	c.130	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	G	2.671	-0.277599	0.05679	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.74947	-0.33;-0.32;-0.89	2.96	0.184	0.15086	.	1.068100	0.07430	N	0.895534	T	0.37019	0.0988	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.26395	-1.0104	10	0.35671	T	0.21	.	1.7769	0.03023	0.5406:0.0:0.1791:0.2803	.	44;44;44	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	C	44	ENSP00000292427:R44C;ENSP00000428043:R44C;ENSP00000366903:R44C	ENSP00000292427:R44C	R	-	1	0	CYP11B1	143958102	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.270000	0.18607	0.327000	0.23409	0.305000	0.20034	CGT	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	G		-		143961100	-1	no_errors	ENST00000292427	ensembl	human	known	74_37	missense	SNP	0.099	A	A	143961100	G	A	143961100	3	1	142	1	0	0	0	0	1	0	0	0	4147	1087	38	1	1417	1	CYP11B1	8	143961100	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	92545682	143961100	2402922	20	10593											
BNC2	54796	genome.wustl.edu	37	chr9	16552635	16552635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacggtccagcaggaTctttagccgcacaggcactg	13	11	1	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr9:16552635T>A	ENST00000380672.4	-	5	619	c.562A>T	c.(562-564)Atc>Ttc	p.I188F	BNC2_ENST00000380666.2_Missense_Mutation_p.I188F|BNC2_ENST00000545497.1_Missense_Mutation_p.I93F|BNC2_ENST00000380667.2_Missense_Mutation_p.I121F	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)		TCCAGCAGGATCTTTAGCCGC	0.557																																																	0								ENSG00000173068						125	94	105					9																	16552635		2203	4300	6503	BNC2	SO:0001583	missense	0			-	HGNC	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.562A>T	9.37:g.16552635T>A	ENSP00000370047:p.Ile188Phe	Somatic	0	45	0		0.531992557693908	3	75	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I188F	ENST00000380672.4	37	c.562	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	T	32	5.141932	0.94560	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;0.987;0.999;1.0;0.995;0.999	D;D;D;D;D;D;D	0.91635	0.998;0.969;0.974;0.994;0.999;0.969;0.986	T	0.00085	-1.2098	10	0.87932	D	0	-21.817	16.6512	0.85203	0.0:0.0:0.0:1.0	.	93;121;225;188;14;146;188	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	F	188;145;225;216;121;93;14;188;188	ENSP00000370047:I188F;ENSP00000408370:I145F;ENSP00000370042:I121F;ENSP00000444640:I93F;ENSP00000370041:I188F	ENSP00000370041:I188F	I	-	1	0	BNC2	16542635	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	8.040000	0.89188	2.333000	0.79357	0.482000	0.46254	ATC	-	NULL		0.557	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	protein_coding	OTTHUMT00000216901.5	T	NM_017637	-		16552635	-1	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16552635	T	A	16552635	3	1	142	1	0	0	0	0	1	0	0	0	1475	1435	50	5	2749	5	BNC2	9	16552635	Missense_Mutation	SNP	T	TCGA-FX-A8OO-01A-11D-A36J-09		16552635	124660796	21	10594											
FOXD4L5	653427	genome.wustl.edu	37	chr9	70177160	70177160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccggcatagacggggGccgagagcagtaggtagcga	18	10	0	2			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr9:70177160G>A	ENST00000377420.1	-	1	1655	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						ATAGACGGGGGCCGAGAGCAG	0.697																																																	0								ENSG00000204779						2	3	3					9																	70177160		439	1198	1637	FOXD4L5	SO:0001583	missense	0			-	HGNC		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.824C>T	9.37:g.70177160G>A	ENSP00000366637:p.Ala275Val	Somatic	1	104	0.95		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	112	15.79		Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A275V	ENST00000377420.1	37	c.824	CCDS47977.1	9	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486724	0.44249	.	.	ENSG00000204779	ENST00000377420	D	0.94184	-3.37	1.07	1.07	0.20283	.	0.184523	0.25634	U	0.029334	D	0.85809	0.5783	L	0.34521	1.04	0.29104	N	0.881274	B	0.28850	0.225	B	0.15870	0.014	T	0.79529	-0.1766	10	0.56958	D	0.05	.	7.6881	0.28552	0.0:0.0:1.0:0.0	.	275	Q5VV16	FX4L5_HUMAN	V	275	ENSP00000366637:A275V	ENSP00000366637:A275V	A	-	2	0	FOXD4L5	69466980	0.000000	0.05858	0.786000	0.31890	0.259000	0.26198	-1.488000	0.02308	0.534000	0.28695	0.074000	0.15403	GCC	-	NULL		0.697	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	protein_coding	OTTHUMT00000037122.1	G	NM_001126334	-		70177160	-1	no_errors	ENST00000377420	ensembl	human	known	74_37	missense	SNP	0.999	A	A	70177160	G	A	70177160	3	1	142	1	0	0	0	0	1	0	0	0	6004	1203	42	2	430	2	FOXD4L5	9	70177160	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	53624525	70177160	71036271	22	10595											
C10orf18	54906	genome.wustl.edu	37	chr10	5777269	5777269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttttctacataaggtGcggaagtgctgactgcacag	11	8	2	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr10:5777269G>T	ENST00000328090.5	+	12	1832	c.1207G>T	c.(1207-1209)Gcg>Tcg	p.A403S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	403																	TACATAAGGTGCGGAAGTGCT	0.378																																																	0								ENSG00000108021						128	124	125					10																	5777269		1834	4089	5923	FAM208B	SO:0001583	missense	0			-	HGNC	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.1207G>T	10.37:g.5777269G>T	ENSP00000328426:p.Ala403Ser	Somatic	0	74	0		0.531992557693908	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP							pfam_DUF3715,pfam_DUF3699	p.A403S	ENST00000328090.5	37	c.1207	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637241	0.87760	.	.	ENSG00000108021	ENST00000328090	T	0.17054	2.3	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000012	T	0.41581	0.1165	M	0.70275	2.135	0.36960	D	0.893279	D	0.89917	1.0	D	0.87578	0.998	T	0.34625	-0.9821	10	0.41790	T	0.15	.	15.5023	0.75709	0.0:0.0:1.0:0.0	.	403	Q5VWN6	F208B_HUMAN	S	403	ENSP00000328426:A403S	ENSP00000328426:A403S	A	+	1	0	C10orf18	5817275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.008000	0.63991	2.738000	0.93877	0.655000	0.94253	GCG	-	NULL		0.378	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	protein_coding	OTTHUMT00000046571.2	G	NM_017782	-		5777269	1	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5777269	G	T	5777269	3	4	142	1	0	0	0	0	1	0	0	0	1598	1319	46	3	1241	3	C10orf18	10	5777269	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09		5777269	129757478	23	10596											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798441	55798441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttttctgtgatatcccaCctcttctggctttatcatgt	5	10	4	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr11:55798441C>A	ENST00000313555.1	+	1	547	c.547C>A	c.(547-549)Cct>Act	p.P183T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	183						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)					TGATATCCCACCTCTTCTGGC	0.423																																																	0								ENSG00000181785						283	280	281					11																	55798441		2201	4296	6497	OR5AS1	SO:0001583	missense	0			-	HGNC	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.547C>A	11.37:g.55798441C>A	ENSP00000324111:p.Pro183Thr	Somatic	0	12	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	Q6IFB8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P183T	ENST00000313555.1	37	c.547	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972077	0.34754	.	.	ENSG00000181785	ENST00000313555	T	0.00216	8.53	5.46	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34628	U	0.003818	T	0.00552	0.0018	M	0.81942	2.565	0.20764	N	0.999852	D	0.89917	1.0	D	0.91635	0.999	T	0.34950	-0.9808	10	0.72032	D	0.01	.	12.9354	0.58311	0.2943:0.7057:0.0:0.0	.	183	Q8N127	O5AS1_HUMAN	T	183	ENSP00000324111:P183T	ENSP00000324111:P183T	P	+	1	0	OR5AS1	55555017	0.000000	0.05858	0.824000	0.32777	0.215000	0.24574	0.303000	0.19210	1.279000	0.44446	-0.195000	0.12781	CCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	protein_coding	OTTHUMT00000391538.1	C	NM_001001921	-		55798441	1	no_errors	ENST00000313555	ensembl	human	known	74_37	missense	SNP	0.576	A	A	55798441	C	A	55798441	3	1	142	1	0	0	0	0	1	0	0	0	11148	507	18	3	549	3	OR5AS1	11	55798441	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		55798441	79208075	24	10597											
SF1	7536	genome.wustl.edu	37	chr11	64544038	64544038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcattcctggaatcactGtcttctgttccattgtgtct	8	10	4	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr11:64544038G>A	ENST00000377390.3	-	2	429	c.92C>T	c.(91-93)aCa>aTa	p.T31I	SF1_ENST00000334944.5_Missense_Mutation_p.T31I|SF1_ENST00000377387.1_Missense_Mutation_p.T156I|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.T31I|AP001462.6_ENST00000594089.1_lincRNA|SF1_ENST00000377394.3_Missense_Mutation_p.T31I|SF1_ENST00000433274.2_Missense_Mutation_p.T5I	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	31					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGAATCACTGTCTTCTGTTC	0.428																																																	0								ENSG00000168066						165	153	157					11																	64544038		2201	4297	6498	SF1	SO:0001583	missense	0			-	HGNC	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.92C>T	11.37:g.64544038G>A	ENSP00000366607:p.Thr31Ile	Somatic	0	64	0		0.531992557693908	162	45.3	135	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	31	50.79	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.T31I	ENST00000377390.3	37	c.92	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086311	0.55861	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274;ENST00000432725;ENST00000416674	T;T;T;T;T;T	0.48522	0.84;0.85;0.86;0.87;0.84;0.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.42581	1.335	0.80722	D	1	D;B;B;B;B;B	0.54964	0.969;0.291;0.291;0.192;0.291;0.291	P;B;B;B;B;B	0.54629	0.757;0.056;0.056;0.042;0.091;0.13	T	0.54490	-0.8286	10	0.49607	T	0.09	.	16.7043	0.85367	0.0:0.0:1.0:0.0	.	31;31;31;31;31;156	Q14820;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	I	156;31;31;31;31;5;5;31	ENSP00000366604:T156I;ENSP00000366607:T31I;ENSP00000227503:T31I;ENSP00000366611:T31I;ENSP00000334414:T31I;ENSP00000396793:T5I	ENSP00000227503:T31I	T	-	2	0	SF1	64300614	1.000000	0.71417	0.983000	0.44433	0.956000	0.61745	7.619000	0.83057	2.540000	0.85666	0.563000	0.77884	ACA	-	NULL		0.428	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	protein_coding	OTTHUMT00000143242.1	G	NM_004630	-		64544038	-1	no_errors	ENST00000377390	ensembl	human	known	74_37	missense	SNP	0.998	A	A	64544038	G	A	64544038	3	1	142	1	0	0	0	0	1	0	0	0	14153	1377	48	2	2013	2	SF1	11	64544038	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	8745597	64544038	70462478	25	10598											
BTBD11	121551	genome.wustl.edu	37	chr12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctcgaaagctggatgCggtggccatcgaagccaagt	13	10	1	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V|BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000151136						137	119	125					12																	108004005		2203	4300	6503	BTBD11	SO:0001583	missense	0			-	HGNC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1682C>T	12.37:g.108004005C>T	ENSP00000280758:p.Ala561Val	Somatic	0	40	0	21	0.531992557693908	7	53.33	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	23	55.77	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.A561V	ENST00000280758.5	37	c.1682	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.343882	0.95807	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.51071	1.16;1.23;1.2;0.73;0.72;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.986;0.996;0.988	T	0.59669	-0.7411	10	0.42905	T	0.14	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	561;98;561;561	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	V	561;561;561;192;195;98	ENSP00000280758:A561V;ENSP00000413889:A561V;ENSP00000447319:A561V;ENSP00000447606:A192V;ENSP00000407416:A195V;ENSP00000349690:A98V	ENSP00000280758:A561V	A	+	2	0	BTBD11	106528135	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	7.773000	0.85462	2.572000	0.86782	0.462000	0.41574	GCG	-	NULL		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	protein_coding	OTTHUMT00000318003.1	C	NM_152322	-		108004005	1	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108004005	C	T	108004005	3	4	142	1	0	0	0	0	1	0	0	0	1541	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		108004005	25847890	26	10599											
SERPINA11	256394	genome.wustl.edu	37	chr14	94909099	94909099	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcctgaagcagccccGgcctcggtccccttctcact	11	17	1	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr14:94909099G>T	ENST00000334708.3	-	5	1177	c.1113C>A	c.(1111-1113)gcC>gcA	p.A371A	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	371					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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AAGCAGCCCCGGCCTCGGTCC	0.582																																																	0								ENSG00000186910						60	59	59					14																	94909099		2203	4300	6503	SERPINA11	SO:0001819	synonymous_variant	0			-	HGNC	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"Serine (or cysteine) peptidase inhibitors"	19193	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.1113C>A	14.37:g.94909099G>T		Somatic	0	50	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.42	B2RV07	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A371	ENST00000334708.3	37	c.1113	CCDS32149.1	14																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.582	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA11	protein_coding	OTTHUMT00000413091.1	G	NM_001080451	-		94909099	-1	no_errors	ENST00000334708	ensembl	human	known	74_37	silent	SNP	0.002	T	T	94909099	G	T	94909099	2	4	142	1	0	0	0	0	0	0	0	1	14096	1103	39	3		3	SERPINA11	14	94909099	Silent	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09		94909099	12440441	27	10600											
XYLT1	64131	genome.wustl.edu	37	chr16	17202853	17202853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcattgcggaggggcccaTtgtgcagcttcagtgcctcc	14	12	1	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr16:17202853T>A	ENST00000261381.6	-	12	2663	c.2579A>T	c.(2578-2580)aAt>aTt	p.N860I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	860					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGGGCCCATTGTGCAGCTT	0.567																																																	0								ENSG00000103489						72	75	74					16																	17202853		2197	4300	6497	XYLT1	SO:0001583	missense	0			-	HGNC	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2579A>T	16.37:g.17202853T>A	ENSP00000261381:p.Asn860Ile	Somatic	0	57	0		0.531992557693908	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q9H1B6	Missense_Mutation	SNP							pfam_XylT,pfam_Glyco_trans_14	p.N860I	ENST00000261381.6	37	c.2579	CCDS10569.1	16	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259724	0.23051	.	.	ENSG00000103489	ENST00000261381	T	0.04917	3.53	5.81	-0.235	0.13071	.	0.182098	0.64402	D	0.000011	T	0.06280	0.0162	L	0.59436	1.845	0.44227	D	0.997063	B	0.24132	0.098	B	0.18263	0.021	T	0.21518	-1.0243	10	0.72032	D	0.01	-35.8623	5.2766	0.15653	0.0:0.4235:0.1637:0.4129	.	860	Q86Y38	XYLT1_HUMAN	I	860	ENSP00000261381:N860I	ENSP00000261381:N860I	N	-	2	0	XYLT1	17110354	0.007000	0.16637	0.932000	0.37286	0.105000	0.19272	0.055000	0.14229	0.117000	0.18138	-0.250000	0.11733	AAT	-	NULL		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	protein_coding	OTTHUMT00000252241.2	T	NM_022166	-		17202853	-1	no_errors	ENST00000261381	ensembl	human	known	74_37	missense	SNP	0.740	A	A	17202853	T	A	17202853	3	1	142	1	0	0	0	0	1	0	0	0	17470	1493	52	5	304	5	XYLT1	16	17202853	Missense_Mutation	SNP	T	TCGA-FX-A8OO-01A-11D-A36J-09		17202853	73151900	28	10601											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29888759	29888759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtccccgtcgaacagcGtcagcatgtccccttcccgc	9	19	1	0	rs200681349		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr16:29888759G>A	ENST00000308713.5	-	11	2269	c.1742C>T	c.(1741-1743)aCg>aTg	p.T581M	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.T511M|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.T537M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.T467M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	581	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCGAACAGCGTCAGCATGTC	0.692																																																	0								ENSG00000174938						22	24	24					16																	29888759		2196	4299	6495	SEZ6L2	SO:0001583	missense	0			-	HGNC	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1742C>T	16.37:g.29888759G>A	ENSP00000312550:p.Thr581Met	Somatic	0	34	0		0.531992557693908	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T581M	ENST00000308713.5	37	c.1742	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.207821	0.95033	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.57	5.57	0.84162	CUB (5);	0.000000	0.53938	D	0.000049	T	0.47893	0.1470	M	0.84082	2.675	0.80722	D	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.49881	-0.8892	10	0.62326	D	0.03	.	18.3115	0.90201	0.0:0.0:1.0:0.0	.	537;581;467;511;581;511	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	511;581;467;537	ENSP00000310206:T511M;ENSP00000312550:T581M;ENSP00000319215:T467M;ENSP00000439412:T537M	ENSP00000312550:T581M	T	-	2	0	SEZ6L2	29796260	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	7.304000	0.78882	2.618000	0.88619	0.655000	0.94253	ACG	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.692	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	protein_coding	OTTHUMT00000255154.2	G	NM_012410	-		29888759	-1	no_errors	ENST00000308713	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29888759	G	A	29888759	3	1	142	1	0	0	0	0	1	0	0	0	14152	1145	40	1	1061	1	SEZ6L2	16	29888759	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	12685906	29888759	60465994	29	10602											
MON1B	22879	genome.wustl.edu	37	chr16	77229444	77229444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcagccctgagctagaGgccccctacagcagagagga	13	13	0	3			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr16:77229444G>T	ENST00000248248.3	+	5	1658	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.E327D|MON1B_ENST00000545553.1_Missense_Mutation_p.E290D	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	436										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CTGAGCTAGAGGCCCCCTACA	0.612																																																	0								ENSG00000103111						51	40	44					16																	77229444		2198	4300	6498	MON1B	SO:0001583	missense	0			-	HGNC	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1308G>T	16.37:g.77229444G>T	ENSP00000248248:p.Glu436Asp	Somatic	0	54	0		0.531992557693908	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4DDZ0|O94949	Missense_Mutation	SNP							pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.E436D	ENST00000248248.3	37	c.1308	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873796	0.51695	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	5.02	2.03	0.26663	.	0.110750	0.64402	D	0.000007	T	0.31638	0.0803	L	0.33339	1.005	0.80722	D	1	B;B;B;B	0.33171	0.029;0.046;0.046;0.4	B;B;B;B	0.30251	0.026;0.103;0.103;0.113	T	0.04115	-1.0976	9	0.21014	T	0.42	.	3.9746	0.09468	0.284:0.1777:0.5383:0.0	.	290;327;316;436	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	D	436;327;290	.	ENSP00000248248:E436D	E	+	3	2	MON1B	75786945	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.311000	0.43717	0.790000	0.33803	-0.136000	0.14681	GAG	-	pfam_Vacuolar_fusion_protein_MON1		0.612	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	protein_coding	OTTHUMT00000269036.2	G	NM_014940	-		77229444	1	no_errors	ENST00000248248	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77229444	G	T	77229444	3	4	142	1	0	0	0	0	1	0	0	0	9701	991	35	3	1322	3	MON1B	16	77229444	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	47340685	77229444	13125309	30	10603											
KCNG4	93107	genome.wustl.edu	37	chr16	84256307	84256307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcacggtgagccccagcGtctgcagccccagcgagtgg	16	15	1	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr16:84256307G>T	ENST00000308251.4	-	3	1144	c.1076C>A	c.(1075-1077)aCg>aAg	p.T359K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	359					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGCCCCAGCGTCTGCAGCCC	0.662																																																	0								ENSG00000168418						17	17	17					16																	84256307		2198	4296	6494	KCNG4	SO:0001583	missense	0			-	HGNC	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1076C>A	16.37:g.84256307G>T	ENSP00000312129:p.Thr359Lys	Somatic	0	24	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q96H24	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.T359K	ENST00000308251.4	37	c.1076	CCDS10945.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491469	0.84962	.	.	ENSG00000168418	ENST00000308251	T	0.63096	-0.02	5.61	4.65	0.58169	Ion transport (1);	0.048222	0.85682	D	0.000000	T	0.76821	0.4041	M	0.67700	2.07	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.79671	-0.1706	10	0.66056	D	0.02	.	15.7048	0.77569	0.0:0.1369:0.863:0.0	.	359	Q8TDN1	KCNG4_HUMAN	K	359	ENSP00000312129:T359K	ENSP00000312129:T359K	T	-	2	0	KCNG4	82813808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.750000	0.68712	1.346000	0.45694	0.655000	0.94253	ACG	-	pfam_Ion_trans_dom,prints_K_chnl		0.662	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	protein_coding	OTTHUMT00000269079.2	G	NM_172347	-		84256307	-1	no_errors	ENST00000308251	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84256307	G	T	84256307	3	4	142	1	0	0	0	0	1	0	0	0	8032	1145	40	3	485	3	KCNG4	16	84256307	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	7026863	84256307	6098446	31	10604											
SLFN12L	100506736	genome.wustl.edu	37	chr17	33806526	33806526	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagaatctctgtaattcGttgtaacaacttttcagtcg	9	7	2	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:33806526G>A	ENST00000260908.7	-	2	820	c.703C>T	c.(703-705)Cga>Tga	p.R235*	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Nonsense_Mutation_p.R266*|SLFN12L_ENST00000361112.4_Nonsense_Mutation_p.R264*	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	235						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCTGTAATTCGTTGTAACAAC	0.313																																																	0								ENSG00000205045						112	90	97					17																	33806526		692	1590	2282	SLFN12L	SO:0001587	stop_gained	0			-	HGNC	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.703C>T	17.37:g.33806526G>A	ENSP00000437635:p.Arg235*	Somatic	0	62	0		0.531992557693908	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	44	48.84	F5H6G3	Nonsense_Mutation	SNP							pfam_ATPase_AAA-4	p.R266*	ENST00000260908.7	37	c.796	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.939927	0.99010	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	.	.	.	2.62	-1.25	0.09405	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2986	0.04156	0.3031:0.0:0.4575:0.2393	.	.	.	.	X	235;264;266	.	ENSP00000437635:R235X	R	-	1	2	SLFN12L	30830639	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-1.111000	0.03303	0.015000	0.14971	0.411000	0.27672	CGA	-	pfam_ATPase_AAA-4		0.313	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	protein_coding	OTTHUMT00000395748.2	G	XM_496206	-		33806526	-1	no_errors	ENST00000449046	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	33806526	G	A	33806526	4	1	142	1	0	0	0	0	0	1	0	0	14743	1153	40	1	1075	1	SLFN12L	17	33806526	Nonsense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09		33806526	47388684	32	10605											
STAT3	6774	genome.wustl.edu	37	chr17	40498700	40498700	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagattatgaaacaccaaagTggcatgtgattctttgctgg	11	6	1	3			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:40498700T>A	ENST00000264657.5	-	3	472	c.160A>T	c.(160-162)Act>Tct	p.T54S	STAT3_ENST00000404395.3_Missense_Mutation_p.T54S|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.T54S|STAT3_ENST00000588969.1_Missense_Mutation_p.T54S	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	54					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|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)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AACACCAAAGTGGCATGTGAT	0.448									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0								ENSG00000168610						203	200	201					17																	40498700		2203	4300	6503	STAT3	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	-	HGNC	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.160A>T	17.37:g.40498700T>A	ENSP00000264657:p.Thr54Ser	Somatic	0	42	0		0.531992557693908	109	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	9.62	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.T54S	ENST00000264657.5	37	c.160	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867309	0.91511	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.52526	0.66;0.66	5.66	5.66	0.87406	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	L	0.60845	1.875	0.49915	D	0.999833	D;D;D	0.67145	0.996;0.979;0.979	D;D;D	0.74023	0.98;0.982;0.982	T	0.66002	-0.6031	10	0.52906	T	0.07	-11.8545	16.1819	0.81915	0.0:0.0:0.0:1.0	.	54;54;54	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	S	54	ENSP00000264657:T54S;ENSP00000384943:T54S	ENSP00000264657:T54S	T	-	1	0	STAT3	37752226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.882000	0.87258	2.279000	0.76181	0.533000	0.62120	ACT	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.448	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	protein_coding	OTTHUMT00000319353.3	T	NM_139276, NM_003150	-		40498700	-1	no_errors	ENST00000264657	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40498700	T	A	40498700	3	1	142	1	0	0	0	0	1	0	0	0	15273	1696	59	5	2240	5	STAT3	17	40498700	Missense_Mutation	SNP	T	TCGA-FX-A8OO-01A-11D-A36J-09	6692174	40498700	40696510	33	10606											
LUC7L3	51747	genome.wustl.edu	37	chr17	48827881	48827881	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaggggatctgatgaTaaaaaaagtagtgtgaagtc	13	2	1	4			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:48827881T>G	ENST00000505658.1	+	10	1347	c.1158T>G	c.(1156-1158)gaT>gaG	p.D386E	LUC7L3_ENST00000544170.1_Missense_Mutation_p.D310E|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D386E|LUC7L3_ENST00000240304.1_Missense_Mutation_p.D386E			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	386	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.D386fs*2(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTA	0.353																																																	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000108848						126	128	127					17																	48827881		2203	4300	6503	LUC7L3	SO:0001583	missense	0			-	HGNC		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1158T>G	17.37:g.48827881T>G	ENSP00000425092:p.Asp386Glu	Somatic	0	41	0		0.531992557693908	323	50.6	339	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP							pfam_Luc7-rel	p.D386E	ENST00000505658.1	37	c.1158	CCDS11573.1	17	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	21.2|21.2|21.2	4.108921|4.108921|4.108921	0.77096|0.77096|0.77096	.|.|.	.|.|.	ENSG00000108848|ENSG00000108848|ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170|ENST00000503728|ENST00000513969	T;T;T;T|.|.	0.62105|.|.	1.61;0.05;1.61;1.61|.|.	5.95|5.95|5.95	4.87|4.87|4.87	0.63330|0.63330|0.63330	.|.|.	0.093051|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|.	0.37758|0.37758|.	0.1015|0.1015|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.43632|0.43632|0.43632	D|D|D	0.996022|0.996022|0.996022	B;B;B|.|.	0.20261|.|.	0.001;0.01;0.043|.|.	B;B;B|.|.	0.15870|.|.	0.008;0.014;0.014|.|.	T|T|.	0.16867|0.16867|.	-1.0388|-1.0388|.	10|5|.	0.38643|.|.	T|.|.	0.18|.|.	-18.8694|-18.8694|-18.8694	9.0747|9.0747|9.0747	0.36513|0.36513|0.36513	0.0:0.1406:0.0:0.8594|0.0:0.1406:0.0:0.8594|0.0:0.1406:0.0:0.8594	.|.|.	310;386;386|.|.	B4DJ96;O95232;A8K3C5|.|.	.;LC7L3_HUMAN;.|.|.	E|R|E	386;386;386;310|35|37	ENSP00000425092:D386E;ENSP00000376919:D386E;ENSP00000240304:D386E;ENSP00000444253:D310E|.|.	ENSP00000240304:D386E|.|.	D|I|X	+|+|+	3|2|1	2|0|0	LUC7L3|LUC7L3|LUC7L3	46182880|46182880|46182880	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	1.910000|1.910000|1.910000	0.39927|0.39927|0.39927	1.065000|1.065000|1.065000	0.40693|0.40693|0.40693	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATA|TAA	-	NULL		0.353	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	protein_coding	OTTHUMT00000368205.2	T	NM_016424	-		48827881	1	no_errors	ENST00000240304	ensembl	human	known	74_37	missense	SNP	1.000	G	G	48827881	T	G	48827881	3	3	142	1	0	0	0	0	1	0	0	0	9086	1403	49	5	1196	5	LUC7L3	17	48827881	Missense_Mutation	SNP	T	TCGA-FX-A8OO-01A-11D-A36J-09	8329181	48827881	32367329	34	10607											
COIL	8161	genome.wustl.edu	37	chr17	55028339	55028339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaattctcagcaactccTctctcttctaatttaactct	2	13	5	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:55028339T>C	ENST00000240316.4	-	2	298	c.264A>G	c.(262-264)agA>agG	p.R88R		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	88						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CAGCAACTCCTCTCTCTTCTA	0.368																																																	0								ENSG00000121058						35	37	37					17																	55028339		2185	4276	6461	COIL	SO:0001819	synonymous_variant	0			-	HGNC	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.264A>G	17.37:g.55028339T>C		Somatic	0	29	0		0.531992557693908	21	38.24	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	17	51.43	B2R931	Silent	SNP							NULL	p.R88	ENST00000240316.4	37	c.264	CCDS11592.1	17																																																																																			-	NULL		0.368	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	protein_coding	OTTHUMT00000440618.1	T		-		55028339	-1	no_errors	ENST00000240316	ensembl	human	known	74_37	silent	SNP	0.004	C	C	55028339	T	C	55028339	2	2	142	1	0	0	0	0	0	0	0	1	3667	1548	54	5		5	COIL	17	55028339	Silent	SNP	T	TCGA-FX-A8OO-01A-11D-A36J-09	6200458	55028339	26166871	35	10608											
KCNJ2	3759	genome.wustl.edu	37	chr17	68172115	68172115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatgacgacacagtgccGtagctcttatctagcaaatg	9	11	2	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:68172115G>A	ENST00000243457.3	+	2	1318	c.935G>A	c.(934-936)cGt>cAt	p.R312H	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R312H	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	312					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACACAGTGCCGTAGCTCTTAT	0.468																																																	0								ENSG00000123700						61	63	62					17																	68172115		2203	4300	6503	KCNJ2	SO:0001583	missense	0			-	HGNC	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.935G>A	17.37:g.68172115G>A	ENSP00000243457:p.Arg312His	Somatic	0	56	0		0.531992557693908	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	O15110|P48049	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.R312H	ENST00000243457.3	37	c.935	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252522	0.80135	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94897	-3.55;-3.55	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	9	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	312	P63252	IRK2_HUMAN	H	312	ENSP00000441848:R312H;ENSP00000243457:R312H	.	R	+	2	0	KCNJ2	65683710	1.000000	0.71417	0.984000	0.44739	0.880000	0.50808	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CGT	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	protein_coding	OTTHUMT00000450889.1	G	NM_000891	-		68172115	1	no_errors	ENST00000243457	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68172115	G	A	68172115	3	1	142	1	0	0	0	0	1	0	0	0	8053	1145	40	1	937	1	KCNJ2	17	68172115	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	13143776	68172115	13023095	36	10609											
ACTN4	81	genome.wustl.edu	37	chr19	39195638	39195638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcatccttaggttcgcCatccaggacatctccgtgga	8	14	2	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr19:39195638C>T	ENST00000252699.2	+	4	538	c.462C>T	c.(460-462)gcC>gcT	p.A154A	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	154	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTAGGTTCGCCATCCAGGACA	0.577																																					Colon(168;199 1940 10254 46213 46384)												0								ENSG00000130402						153	115	128					19																	39195638		2203	4300	6503	ACTN4	SO:0001819	synonymous_variant	0			-	HGNC	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.462C>T	19.37:g.39195638C>T		Somatic	0	80	0		0.531992557693908	253	31.99	119	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	35	48.53	A4K467|D6PXK4|O76048	Silent	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A154	ENST00000252699.2	37	c.462	CCDS12518.1	19																																																																																			-	superfamily_CH-domain,pfscan_CH-domain		0.577	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	protein_coding	OTTHUMT00000268091.1	C		-		39195638	1	no_errors	ENST00000252699	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39195638	C	T	39195638	2	4	142	1	0	0	0	0	0	0	0	1	207	581	21	2		2	ACTN4	19	39195638	Silent	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		39195638	19933345	37	10610											
ZNF114	163071	genome.wustl.edu	37	chr19	48789076	48789076	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagccggatattcttcctaaAagaacatttcctgaagccaa	6	11	1	2			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr19:48789076A>T	ENST00000595607.1	+	6	689	c.195A>T	c.(193-195)aaA>aaT	p.K65N	ZNF114_ENST00000315849.1_Missense_Mutation_p.K65N|ZNF114_ENST00000600687.1_Missense_Mutation_p.K65N|ZNF114_ENST00000597695.1_Missense_Mutation_p.K31N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTCTTCCTAAAAGAACATTTC	0.443																																																	0								ENSG00000178150						91	84	86					19																	48789076		2203	4300	6503	ZNF114	SO:0001583	missense	0			-	HGNC	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.195A>T	19.37:g.48789076A>T	ENSP00000469998:p.Lys65Asn	Somatic	0	59	0		0.531992557693908	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	36	52.63	A8K6B0|Q08AQ6	Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K65N	ENST00000595607.1	37	c.195	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	A	9.460	1.092844	0.20471	.	.	ENSG00000178150	ENST00000315849	T	0.05081	3.5	1.98	-0.171	0.13331	Krueppel-associated box (1);	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.47827	0.558	T	0.41395	-0.9511	9	0.17832	T	0.49	.	5.4509	0.16565	0.6977:0.0:0.3023:0.0	.	65	Q8NC26	ZN114_HUMAN	N	65	ENSP00000318898:K65N	ENSP00000318898:K65N	K	+	3	2	ZNF114	53480888	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.638000	0.24674	-0.119000	0.11830	0.338000	0.21704	AAA	-	pfscan_Krueppel-associated_box		0.443	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	protein_coding	OTTHUMT00000465601.1	A	NM_153608	-		48789076	1	no_errors	ENST00000315849	ensembl	human	known	74_37	missense	SNP	0.000	T	T	48789076	A	T	48789076	3	4	142	1	0	0	0	0	1	0	0	0	17723	11	1	5	205	5	ZNF114	19	48789076	Missense_Mutation	SNP	A	TCGA-FX-A8OO-01A-11D-A36J-09	9593438	48789076	10339907	38	10611											
COL20A1	57642	genome.wustl.edu	37	chr20	61952385	61952385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatggagagacctgcccCgccttcgtgtctgcctgttc	13	13	1	1	rs115782548	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr20:61952385C>T	ENST00000358894.6	+	26	3274	c.3174C>T	c.(3172-3174)ccC>ccT	p.P1058P	COL20A1_ENST00000422202.1_Silent_p.P1065P|COL20A1_ENST00000326996.6_Silent_p.P1058P|COL20A1_ENST00000435874.1_Silent_p.P1065P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1058					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGACCTGCCCCGCCTTCGTGT	0.612																																																	0								ENSG00000101203						24	29	27					20																	61952385		1886	4092	5978	COL20A1	SO:0001819	synonymous_variant	0			-	HGNC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3174C>T	20.37:g.61952385C>T		Somatic	1	146	0.68		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	81	50.31	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P1058	ENST00000358894.6	37	c.3174	CCDS46628.1	20																																																																																			-	NULL		0.612	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	protein_coding	OTTHUMT00000144595.2	C	NM_020882	-		61952385	1	no_errors	ENST00000326996	ensembl	human	known	74_37	silent	SNP	0.008	T	T	61952385	C	T	61952385	2	4	142	1	0	0	0	0	0	0	0	1	3681	639	23	1		1	COL20A1	20	61952385	Silent	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		61952385	1073135	39	10612											
MORC2	22880	genome.wustl.edu	37	chr22	31328907	31328907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtcgtgtctgtgggcaCgtagtcaaacttcaccttcc	11	11	3	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr22:31328907C>T	ENST00000397641.3	-	22	2899	c.2491G>A	c.(2491-2493)Gtg>Atg	p.V831M	MORC2_ENST00000215862.4_Missense_Mutation_p.V769M|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	831						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCTGTGGGCACGTAGTCAAAC	0.622																																																	0								ENSG00000133422						253	228	236					22																	31328907		2203	4300	6503	MORC2	SO:0001583	missense	0			-	HGNC	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2491G>A	22.37:g.31328907C>T	ENSP00000380763:p.Val831Met	Somatic	0	49	0		0.531992557693908	144	42.17	105	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	41	38.81	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP							pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.V831M	ENST00000397641.3	37	c.2491		22	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223703	0.79576	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.14144	2.53;2.53	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00201	-1.1926	10	0.30854	T	0.27	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	831	Q9Y6X9	MORC2_HUMAN	M	831;769	ENSP00000380763:V831M;ENSP00000215862:V769M	ENSP00000215862:V769M	V	-	1	0	MORC2	29658907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	GTG	-	NULL		0.622	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	protein_coding	OTTHUMT00000321710.2	C	NM_014941	-		31328907	-1	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31328907	C	T	31328907	3	4	142	1	0	0	0	0	1	0	0	0	9704	536	19	1	627	1	MORC2	22	31328907	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		31328907	19975659	40	10613											
MLC1	23209	genome.wustl.edu	37	chr22	50518372	50518372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgggttcaggactAgtttgcatccaaaccaaatt	9	8	1	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr22:50518372A>G	ENST00000311597.5	-	5	1004	c.398T>C	c.(397-399)cTa>cCa	p.L133P	MLC1_ENST00000535444.1_Missense_Mutation_p.L54P|MLC1_ENST00000538737.1_Intron|MLC1_ENST00000431262.2_Missense_Mutation_p.L103P|MLC1_ENST00000395876.2_Missense_Mutation_p.L133P|MLC1_ENST00000450140.2_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	133					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTCAGGACTAGTTTGCATCC	0.473																																																	0								ENSG00000100427						193	168	176					22																	50518372		2203	4300	6503	MLC1	SO:0001583	missense	0			-	HGNC	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.398T>C	22.37:g.50518372A>G	ENSP00000310375:p.Leu133Pro	Somatic	0	69	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	48	43.53	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP							NULL	p.L133P	ENST00000311597.5	37	c.398	CCDS14083.1	22	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584913	0.65992	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000431262;ENST00000535444;ENST00000442311	D;D;D;D;D	0.96651	-4.04;-4.04;-3.66;-3.88;-4.08	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.97642	0.9227	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98397	1.0566	10	0.87932	D	0	-15.396	13.9052	0.63831	1.0:0.0:0.0:0.0	.	103;133	B7Z659;Q15049	.;MLC1_HUMAN	P	133;133;103;54;103	ENSP00000379216:L133P;ENSP00000310375:L133P;ENSP00000415877:L103P;ENSP00000438910:L54P;ENSP00000401385:L103P	ENSP00000310375:L133P	L	-	2	0	MLC1	48860499	1.000000	0.71417	0.612000	0.29024	0.459000	0.32528	8.051000	0.89446	1.918000	0.55548	0.459000	0.35465	CTA	-	NULL		0.473	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	protein_coding	OTTHUMT00000316979.2	A	NM_015166	-		50518372	-1	no_errors	ENST00000311597	ensembl	human	known	74_37	missense	SNP	0.997	G	G	50518372	A	G	50518372	3	3	142	1	0	0	0	0	1	0	0	0	9614	420	15	5	767	5	MLC1	22	50518372	Missense_Mutation	SNP	A	TCGA-FX-A8OO-01A-11D-A36J-09	19189465	50518372	786194	41	10614											
CFP	5199	genome.wustl.edu	37	chrX	47486725	47486725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccaggtggcccaggccCcgtgtgctgtggtggggtgg	20	12	0	0			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrX:47486725C>T	ENST00000396992.3	-	5	701	c.581G>A	c.(580-582)gGg>gAg	p.G194E	CFP_ENST00000377005.2_Missense_Mutation_p.G194E|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.G194E	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	194	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCCCAGGCCCCGTGTGCTGT	0.652																																																	0								ENSG00000126759						24	27	26					X																	47486725		2194	4279	6473	CFP	SO:0001583	missense	0			-	HGNC	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.581G>A	X.37:g.47486725C>T	ENSP00000380189:p.Gly194Glu	Somatic	0	89	0		0.531992557693908	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	58	35.56	O15134|O15135|O15136|O75826	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G194E	ENST00000396992.3	37	c.581	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745191	0.69418	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.63	5.63	0.86233	.	0.183427	0.46442	D	0.000288	D	0.86477	0.5942	H	0.97852	4.09	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.90916	0.4779	10	0.72032	D	0.01	.	13.9691	0.64228	0.0:1.0:0.0:0.0	.	130;194	B3KVK6;P27918	.;PROP_HUMAN	E	194;194;194;59	ENSP00000380189:G194E;ENSP00000247153:G194E;ENSP00000366204:G194E;ENSP00000418258:G59E	ENSP00000247153:G194E	G	-	2	0	CFP	47371669	0.995000	0.38212	0.969000	0.41365	0.598000	0.36846	5.368000	0.66133	2.370000	0.80446	0.596000	0.82720	GGG	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.652	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	protein_coding	OTTHUMT00000056435.2	C	NM_002621	-		47486725	-1	no_errors	ENST00000247153	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47486725	C	T	47486725	3	4	142	1	0	0	0	0	1	0	0	0	3295	623	22	2	848	2	CFP	23	47486725	Missense_Mutation	SNP	C	TCGA-FX-A8OO-01A-11D-A36J-09		47486725	107783835	42	10615											
TAF1	6872	genome.wustl.edu	37	chrX	70587351	70587351	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtccctttttcaggaAtgtaagaagcacttggcagg	12	8	1	1			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrX:70587351A>T	ENST00000373790.4	+	2	234	c.183A>T	c.(181-183)gaA>gaT	p.E61D	TAF1_ENST00000276072.3_Missense_Mutation_p.E61D|TAF1_ENST00000449580.1_Missense_Mutation_p.E61D|TAF1_ENST00000423759.1_Missense_Mutation_p.E61D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	61	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTTCAGGAATGTAAGAAGC	0.517																																																	0								ENSG00000147133						89	71	77					X																	70587351		2203	4300	6503	TAF1	SO:0001583	missense	0			-	HGNC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.183A>T	X.37:g.70587351A>T	ENSP00000362895:p.Glu61Asp	Somatic	0	60	0		0.531992557693908	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E61D	ENST00000373790.4	37	c.183	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	19.36	3.812109	0.70797	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13196	2.61;2.68;2.7;2.64	4.51	-0.246	0.13022	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.33485	1.01	0.49213	D	0.999763	B;P	0.40970	0.085;0.734	B;P	0.47915	0.054;0.561	T	0.03384	-1.1042	10	0.59425	D	0.04	.	9.0001	0.36077	0.7387:0.0:0.2613:0.0	.	61;61	P21675;P21675-2	TAF1_HUMAN;.	D	61	ENSP00000362895:E61D;ENSP00000389000:E61D;ENSP00000406549:E61D;ENSP00000276072:E61D	ENSP00000276072:E61D	E	+	3	2	TAF1	70504076	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.476000	0.35420	-0.077000	0.12752	-0.283000	0.09986	GAA	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd		0.517	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	A	NM_004606	-		70587351	1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	SNP	0.997	T	T	70587351	A	T	70587351	3	4	142	1	0	0	0	0	1	0	0	0	15520	98	4	5	189	5	TAF1	23	70587351	Missense_Mutation	SNP	A	TCGA-FX-A8OO-01A-11D-A36J-09	23100626	70587351	84683209	43	10616											
ACSL4	2182	genome.wustl.edu	37	chrX	108904872	108904872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcactagatctttcttacGatctgttaagtcataaagaa	5	8	5	2	rs122458138		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrX:108904872G>A	ENST00000469796.2	-	14	2104	c.1708C>T	c.(1708-1710)Cgt>Tgt	p.R570C	ACSL4_ENST00000348502.6_Missense_Mutation_p.R529C|ACSL4_ENST00000340800.2_Missense_Mutation_p.R570C			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	570			R -> S (in MRX63). {ECO:0000269|PubMed:11889465}.		cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TCTTTCTTACGATCTGTTAAG	0.343																																					Pancreas(188;358 2127 38547 41466 45492)												0			GRCh37	CM020684	ACSL4	M	rs122458138	ENSG00000068366						134	112	120					X																	108904872		2203	4299	6502	ACSL4	SO:0001583	missense	0			-	HGNC	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1708C>T	X.37:g.108904872G>A	ENSP00000419171:p.Arg570Cys	Somatic	0	39	0		0.531992557693908	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.R570C	ENST00000469796.2	37	c.1708	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627204	0.87560	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.60672	0.17;0.17;0.17	4.67	4.67	0.58626	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94281	0.7520	10	0.87932	D	0	-11.9297	17.1389	0.86748	0.0:0.0:1.0:0.0	.	570	O60488	ACSL4_HUMAN	C	529;570;570	ENSP00000262835:R529C;ENSP00000419171:R570C;ENSP00000339787:R570C	ENSP00000339787:R570C	R	-	1	0	ACSL4	108791528	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.841000	0.86834	2.055000	0.61198	0.506000	0.49869	CGT	-	pfam_AMP-dep_Synth/Lig		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	protein_coding	OTTHUMT00000358155.2	G	NM_004458	-		108904872	-1	no_errors	ENST00000340800	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108904872	G	A	108904872	3	1	142	1	0	0	0	0	1	0	0	0	179	1058	37	1	439	1	ACSL4	23	108904872	Missense_Mutation	SNP	G	TCGA-FX-A8OO-01A-11D-A36J-09	38317521	108904872	46365688	44	10617											
PADI3	51702	genome.wustl.edu	37	chr1	17588628	17588628	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcccaactctccacagGttcagatttcctaccactcc	5	18	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr1:17588628G>T	ENST00000375460.3	+	3	314	c.274G>T	c.(274-276)Gtt>Ttt	p.V92F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	92					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTCTCCACAGGTTCAGATTTC	0.582																																																	0								ENSG00000142619						70	59	63					1																	17588628		2203	4300	6503	PADI3	SO:0001630	splice_region_variant	0			-	HGNC	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.274-1G>T	1.37:g.17588628G>T		Somatic	0	41	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	Q58EY7|Q70SX5	Missense_Mutation	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V92F	ENST00000375460.3	37	c.274	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915336	0.52546	.	.	ENSG00000142619	ENST00000375460	T	0.16073	2.37	5.08	4.16	0.48862	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.238077	0.36374	N	0.002628	T	0.20981	0.0505	M	0.77616	2.38	0.80722	D	1	B	0.10296	0.003	B	0.17098	0.017	T	0.03384	-1.1042	9	.	.	.	-7.2539	9.9531	0.41651	0.0944:0.0:0.9056:0.0	.	92	Q9ULW8	PADI3_HUMAN	F	92	ENSP00000364609:V92F	.	V	+	1	0	PADI3	17461215	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.220000	0.42908	2.376000	0.81061	0.563000	0.77884	GTT	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub		0.582	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	protein_coding	OTTHUMT00000006805.1	G		-	Missense_Mutation	17588628	1	no_errors	ENST00000375460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17588628	G	T	17588628	5	4	143	1	0	0	0	0	0	0	1	0	11381	1275	44	3	284	3	PADI3	1	17588628	Splice_Site	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		17588628	231661993	1	10618											
MACF1	23499	genome.wustl.edu	37	chr1	39801098	39801098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagtgattttggaagtAcaagaaacatattgtgaaac	12	3	0	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr1:39801098A>G	ENST00000372915.3	+	36	8940	c.8853A>G	c.(8851-8853)gtA>gtG	p.V2951V	MACF1_ENST00000567887.1_Silent_p.V2983V|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.V1386V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Silent_p.V2946V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2951					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTGGAAGTACAAGAAACAT	0.393																																																	0								ENSG00000127603						54	57	56					1																	39801098		2203	4300	6503	MACF1	SO:0001819	synonymous_variant	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8853A>G	1.37:g.39801098A>G		Somatic	0	10	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.V2983	ENST00000372915.3	37	c.8949		1																																																																																			-	superfamily_RNaseH-like_dom		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	A	NM_033044	-		39801098	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	silent	SNP	0.001	G	G	39801098	A	G	39801098	2	3	143	1	0	0	0	0	0	0	0	1	9146	378	14	5		5	MACF1	1	39801098	Silent	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	22212470	39801098	209449523	2	10619											
GBP4	115361	genome.wustl.edu	37	chr1	89660991	89660991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccttaccttttctacatCgcccaggccctcggtgtcca	7	17	1	0	rs75750014		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr1:89660991C>T	ENST00000355754.6	-	3	449	c.352G>A	c.(352-354)Gat>Aat	p.D118N		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	118	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D118N(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)		TTTTCTACATCGCCCAGGCCC	0.493																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000162654						113	107	109					1																	89660991		2203	4300	6503	GBP4	SO:0001583	missense	0			-	HGNC	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.352G>A	1.37:g.89660991C>T	ENSP00000359490:p.Asp118Asn	Somatic	0	70	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	42	40.00	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D118N	ENST00000355754.6	37	c.352	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434450	0.62955	.	.	ENSG00000162654	ENST00000355754	D	0.84944	-1.92	5.29	5.29	0.74685	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.82056	2.57	0.41316	D	0.987147	B	0.28880	0.226	B	0.21546	0.035	T	0.82147	-0.0601	10	0.56958	D	0.05	.	16.4548	0.84008	0.0:1.0:0.0:0.0	.	118	Q96PP9	GBP4_HUMAN	N	118	ENSP00000359490:D118N	ENSP00000359490:D118N	D	-	1	0	GBP4	89433579	0.998000	0.40836	0.959000	0.39883	0.565000	0.35776	4.183000	0.58317	2.754000	0.94517	0.591000	0.81541	GAT	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.493	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941	-		89660991	-1	no_errors	ENST00000355754	ensembl	human	known	74_37	missense	SNP	0.997	T	T	89660991	C	T	89660991	3	4	143	1	0	0	0	0	1	0	0	0	6278	884	31	1	1606	1	GBP4	1	89660991	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	49859893	89660991	159589630	3	10620											
SLAMF6	114836	genome.wustl.edu	37	chr1	160459990	160459990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagtctgaatgctcaccgGggccctgtgttcgctgagta	13	10	2	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr1:160459990G>T	ENST00000368057.3	-	5	854	c.794C>A	c.(793-795)cCc>cAc	p.P265H	SLAMF6_ENST00000368055.1_Missense_Mutation_p.P154H|SLAMF6_ENST00000368059.3_Missense_Mutation_p.P265H			Q96DU3	SLAF6_HUMAN	SLAM family member 6	265						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATGCTCACCGGGGCCCTGTGT	0.473																																																	0								ENSG00000162739						122	128	126					1																	160459990		2203	4300	6503	SLAMF6	SO:0001583	missense	0			-	HGNC	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.794C>A	1.37:g.160459990G>T	ENSP00000357036:p.Pro265His	Somatic	0	51	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P265H	ENST00000368057.3	37	c.794	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105368	0.08731	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.17528	2.85;2.89;2.27	3.56	0.629	0.17687	.	2.387310	0.01778	N	0.031567	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	P;B;B;B;B	0.40931	0.733;0.003;0.005;0.003;0.003	B;B;B;B;B	0.35510	0.204;0.001;0.007;0.003;0.003	T	0.20405	-1.0276	10	0.22109	T	0.4	-0.0023	3.129	0.06417	0.2292:0.0:0.561:0.2097	.	154;154;216;265;265	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;.;SLAF6_HUMAN;.	H	265;265;154	ENSP00000357038:P265H;ENSP00000357036:P265H;ENSP00000357034:P154H	ENSP00000357034:P154H	P	-	2	0	SLAMF6	158726614	0.036000	0.19791	0.100000	0.21137	0.071000	0.16799	0.023000	0.13533	0.146000	0.19002	0.655000	0.94253	CCC	-	NULL		0.473	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	protein_coding	OTTHUMT00000059010.1	G	NM_052931	-		160459990	-1	no_errors	ENST00000368057	ensembl	human	known	74_37	missense	SNP	0.120	T	T	160459990	G	T	160459990	3	4	143	1	0	0	0	0	1	0	0	0	14376	1232	43	3	220	3	SLAMF6	1	160459990	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	70798999	160459990	88790631	4	10621											
FMN2	56776	genome.wustl.edu	37	chr1	240497454	240497454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttccactgccagaaccccagGacctttttcaggcctcacag	7	16	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr1:240497454G>T	ENST00000319653.9	+	13	4920	c.4690G>T	c.(4690-4692)Gac>Tac	p.D1564Y	FMN2_ENST00000545751.1_Missense_Mutation_p.D160Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1564	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D1707Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAACCCCAGGACCTTTTTCA	0.353																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000155816						123	137	132					1																	240497454		2203	4299	6502	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4690G>T	1.37:g.240497454G>T	ENSP00000318884:p.Asp1564Tyr	Somatic	0	41	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.D1564Y	ENST00000319653.9	37	c.4690	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621200	0.87460	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.18502	2.21;2.21	5.52	5.52	0.82312	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.082150	0.49916	D	0.000132	T	0.50650	0.1628	M	0.87971	2.92	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;0.992;0.985;0.999	T	0.57825	-0.7744	10	0.87932	D	0	.	19.4322	0.94775	0.0:0.0:1.0:0.0	.	160;210;193;1564	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	Y	1564;160;191;40	ENSP00000318884:D1564Y;ENSP00000437918:D160Y	ENSP00000318884:D1564Y	D	+	1	0	FMN2	238564077	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.970000	0.88000	2.593000	0.87608	0.561000	0.74099	GAC	-	pfam_FH2_Formin,smart_FH2_Formin		0.353	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	G	XM_371352	-		240497454	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	1.000	T	T	240497454	G	T	240497454	3	4	143	1	0	0	0	0	1	0	0	0	5952	1174	41	3	4740	3	FMN2	1	240497454	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	80037464	240497454	8753167	5	10622											
OR2G2	81470	genome.wustl.edu	37	chr1	247752530	247752530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtaacccgcatgcttaaccCtcttatttataccttgagga	7	11	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr1:247752530C>A	ENST00000320065.1	+	1	869	c.869C>A	c.(868-870)cCt>cAt	p.P290H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGCTTAACCCTCTTATTTAT	0.403																																																	0								ENSG00000177489						111	116	114					1																	247752530		2203	4300	6503	OR2G2	SO:0001583	missense	0			-	HGNC	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.869C>A	1.37:g.247752530C>A	ENSP00000326349:p.Pro290His	Somatic	0	93	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	27.12	Q5JQT2|Q6IEZ0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P290H	ENST00000320065.1	37	c.869	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436552	0.43224	.	.	ENSG00000177489	ENST00000320065	T	0.64260	-0.09	4.29	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	U	0.002195	T	0.77110	0.4082	M	0.82132	2.575	0.30700	N	0.750446	D	0.89917	1.0	D	0.97110	1.0	T	0.76759	-0.2841	10	0.87932	D	0	.	9.7522	0.40483	0.0:0.8973:0.0:0.1027	.	290	Q8NGZ5	OR2G2_HUMAN	H	290	ENSP00000326349:P290H	ENSP00000326349:P290H	P	+	2	0	OR2G2	245819153	0.780000	0.28664	0.188000	0.23233	0.387000	0.30353	2.423000	0.44705	1.008000	0.39264	0.591000	0.81541	CCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.403	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	protein_coding	OTTHUMT00000097623.1	C		-		247752530	1	no_errors	ENST00000320065	ensembl	human	known	74_37	missense	SNP	0.989	A	A	247752530	C	A	247752530	3	1	143	1	0	0	0	0	1	0	0	0	11000	681	24	3	871	3	OR2G2	1	247752530	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	7255076	247752530	1498091	6	10623											
MYT1L	23040	genome.wustl.edu	37	chr2	1947094	1947094	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttttcgccaagggAcaaccatatacactaattaa	4	9	1	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:1947094A>T	ENST00000399161.2	-	9	912	c.165T>A	c.(163-165)tgT>tgA	p.C55*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.C55*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	55					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCGCCAAGGGACAACCATATA	0.418																																																	0								ENSG00000186487						38	32	34					2																	1947094		1855	4102	5957	MYT1L	SO:0001587	stop_gained	0			-	HGNC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.165T>A	2.37:g.1947094A>T	ENSP00000382114:p.Cys55*	Somatic	0	71	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.C55*	ENST00000399161.2	37	c.165		2	.	.	.	.	.	.	.	.	.	.	A	43	10.011614	0.99317	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.4	-0.966	0.10320	.	0.055566	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3157	11.1011	0.48174	0.7725:0.0:0.2275:0.0	.	.	.	.	X	55	.	ENSP00000295067:C55X	C	-	3	2	MYT1L	1926101	0.994000	0.37717	0.996000	0.52242	0.997000	0.91878	0.370000	0.20433	-0.117000	0.11872	0.455000	0.32223	TGT	-	pfam_Znf_C2HC		0.418	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	A	NM_015025	-		1947094	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	nonsense	SNP	0.997	T	T	1947094	A	T	1947094	4	4	143	1	0	0	0	0	0	1	0	0	10109	273	10	5	3457	5	MYT1L	2	1947094	Nonsense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09		1947094	241252279	7	10624											
C2orf44	80304	genome.wustl.edu	37	chr2	24262326	24262326	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgcttgatgcaacgcattCagtccagtcctgagtagttt	9	10	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:24262326C>G	ENST00000295148.4	-	2	96	c.39G>C	c.(37-39)ctG>ctC	p.L13L	C2orf44_ENST00000406895.3_Silent_p.L13L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	13									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAACGCATTCAGTCCAGTCC	0.453			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0								ENSG00000163026						82	75	77					2																	24262326		2203	4300	6503	C2orf44	SO:0001819	synonymous_variant	0			-	HGNC	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.39G>C	2.37:g.24262326C>G		Somatic	0	34	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	D6W532|Q8IYK0|Q9HBP5	Silent	SNP							NULL	p.L13	ENST00000295148.4	37	c.39	CCDS1705.1	2																																																																																			-	NULL		0.453	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	protein_coding	OTTHUMT00000246825.1	C	NM_025203	-		24262326	-1	no_errors	ENST00000295148	ensembl	human	known	74_37	silent	SNP	0.998	G	G	24262326	C	G	24262326	2	3	143	1	0	0	0	0	0	0	0	1	2170	813	29	4		4	C2orf44	2	24262326	Silent	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	22315232	24262326	218937047	8	10625											
HK2	3099	genome.wustl.edu	37	chr2	75115175	75115175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgaaaccaagttcttgtctCagattgagaggtgagagctt	11	6	2	4			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:75115175C>G	ENST00000290573.2	+	16	2965	c.2365C>G	c.(2365-2367)Cag>Gag	p.Q789E	HK2_ENST00000409174.1_Missense_Mutation_p.Q761E	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	789	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTTCTTGTCTCAGATTGAGAG	0.502																																																	0								ENSG00000159399						101	97	99					2																	75115175		2203	4300	6503	HK2	SO:0001583	missense	0			-	HGNC		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2365C>G	2.37:g.75115175C>G	ENSP00000290573:p.Gln789Glu	Somatic	0	34	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.Q789E	ENST00000290573.2	37	c.2365	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101376	0.20632	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96104	-3.91;-3.91	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	N	0.13272	0.32	0.80722	D	1	P	0.51791	0.948	P	0.44897	0.463	D	0.88299	0.2948	10	0.10902	T	0.67	-28.6905	15.5668	0.76300	0.0:1.0:0.0:0.0	.	789	P52789	HXK2_HUMAN	E	789;789;761	ENSP00000290573:Q789E;ENSP00000387140:Q761E	ENSP00000290573:Q789E	Q	+	1	0	HK2	74968683	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.602000	0.82796	2.623000	0.88846	0.555000	0.69702	CAG	-	pfam_Hexokinase_C		0.502	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	protein_coding	OTTHUMT00000252238.2	C	NM_000189	-		75115175	1	no_errors	ENST00000290573	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75115175	C	G	75115175	3	3	143	1	0	0	0	0	1	0	0	0	7193	827	29	4	2427	4	HK2	2	75115175	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	50852849	75115175	168084198	9	10626											
POLR1A	25885	genome.wustl.edu	37	chr2	86274381	86274381	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtaggccaaaaggcatGcatgcctgcagattaaatca	10	9	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:86274381G>T	ENST00000263857.6	-	19	3018	c.2640C>A	c.(2638-2640)tgC>tgA	p.C880*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	880					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAAAAGGCATGCATGCCTGCA	0.478																																																	0								ENSG00000068654						86	83	84					2																	86274381		1983	4165	6148	POLR1A	SO:0001587	stop_gained	0			-	HGNC	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2640C>A	2.37:g.86274381G>T	ENSP00000263857:p.Cys880*	Somatic	0	38	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP							pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.C880*	ENST00000263857.6	37	c.2640	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.005116	0.99315	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.54	1.71	0.24356	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.531	9.6738	0.40028	0.281:0.0:0.719:0.0	.	.	.	.	X	880	.	ENSP00000263857:C880X	C	-	3	2	POLR1A	86127892	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.416000	0.34759	0.033000	0.15463	-0.136000	0.14681	TGC	-	pfam_RNA_pol_Rpb1_4		0.478	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	protein_coding	OTTHUMT00000329830.2	G	NM_015425	-		86274381	-1	no_errors	ENST00000263857	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	86274381	G	T	86274381	4	4	143	1	0	0	0	0	0	1	0	0	12211	1311	46	3	2586	3	POLR1A	2	86274381	Nonsense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	11159206	86274381	156924992	10	10627											
ADRA2B	151	genome.wustl.edu	37	chr2	96781300	96781300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgcgtttggcgatcaGgtagatgcgcaggtagacaa	15	7	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:96781300G>T	ENST00000409345.3	-	1	684	c.589C>A	c.(589-591)Ctg>Atg	p.L197M		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	197					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTGGCGATCAGGTAGATGCGC	0.617																																																	0								ENSG00000222040						42	48	46					2																	96781300		2129	4253	6382	ADRA2B	SO:0001583	missense	0			-	HGNC	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.589C>A	2.37:g.96781300G>T	ENSP00000387281:p.Leu197Met	Somatic	0	23	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.L197M	ENST00000409345.3	37	c.589	CCDS56129.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533231	0.45073	.	.	ENSG00000222040	ENST00000409345	T	0.39056	1.1	5.07	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41994	0.1183	M	0.81239	2.535	0.28536	N	0.912333	B	0.32365	0.367	B	0.32762	0.152	T	0.36163	-0.9759	9	0.42905	T	0.14	.	6.5103	0.22218	0.1643:0.2903:0.5454:0.0	.	197	P18089	ADA2B_HUMAN	M	197	ENSP00000387281:L197M	ENSP00000387281:L197M	L	-	1	2	ADRA2B	96145027	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.303000	0.43646	0.029000	0.15352	0.456000	0.33151	CTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam		0.617	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	protein_coding	OTTHUMT00000334990.1	G		-		96781300	-1	no_errors	ENST00000409345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96781300	G	T	96781300	3	4	143	1	0	0	0	0	1	0	0	0	338	991	35	3	758	3	ADRA2B	2	96781300	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	10506919	96781300	146418073	11	10628											
NEB	4703	genome.wustl.edu	37	chr2	152521904	152521904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccattgtgtccatggcGtaagtgaacttcagcttctc	9	10	2	1	rs35016946		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:152521904G>A	ENST00000172853.10	-	42	5328	c.5181C>T	c.(5179-5181)taC>taT	p.Y1727Y	NEB_ENST00000427231.2_Silent_p.Y1727Y|NEB_ENST00000397345.3_Silent_p.Y1727Y|NEB_ENST00000409198.1_Silent_p.Y1727Y|NEB_ENST00000604864.1_Silent_p.Y1727Y|NEB_ENST00000603639.1_Silent_p.Y1727Y			P20929	NEBU_HUMAN	nebulin	1727					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)		TGTCCATGGCGTAAGTGAACT	0.512																																																	0								ENSG00000183091	G	,,	0,4136		0,0,2068	256	251	253		5181,5181,5181	-7	0	2	dbSNP_126	253	6,8384		0,6,4189	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,6,6257	AA,AG,GG		0.0715,0.0,0.0479	,,	1727/8526,1727/8526,1727/6670	152521904	6,12520	2068	4195	6263	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.5181C>T	2.37:g.152521904G>A		Somatic	0	257	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	137	31.53	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y1727	ENST00000172853.10	37	c.5181		2																																																																																			-	smart_Nebulin_35r-motif		0.512	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	rs35016946		152521904	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.000	A	A	152521904	G	A	152521904	2	1	143	1	0	0	0	0	0	0	0	1	10304	1140	40	1		1	NEB	2	152521904	Silent	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	55740604	152521904	90677469	12	10629											
ZNF804A	91752	genome.wustl.edu	37	chr2	185802321	185802321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaaatgtcaagctgtaGtcaggatcacagaagcttag	9	8	3	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:185802321G>T	ENST00000302277.6	+	4	2792	c.2198G>T	c.(2197-2199)aGt>aTt	p.S733I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	733							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAGCTGTAGTCAGGATCAC	0.328																																																	0								ENSG00000170396						53	50	51					2																	185802321		2203	4298	6501	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2198G>T	2.37:g.185802321G>T	ENSP00000303252:p.Ser733Ile	Somatic	0	16	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.S733I	ENST00000302277.6	37	c.2198	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123730	0.08931	.	.	ENSG00000170396	ENST00000302277	T	0.08102	3.13	5.85	4.04	0.47022	.	0.609054	0.16552	N	0.209435	T	0.11750	0.0286	L	0.43152	1.355	0.09310	N	1	D	0.54397	0.966	P	0.47470	0.548	T	0.07558	-1.0766	10	0.87932	D	0	-0.0499	10.9394	0.47264	0.1522:0.0:0.8478:0.0	.	733	Q7Z570	Z804A_HUMAN	I	733	ENSP00000303252:S733I	ENSP00000303252:S733I	S	+	2	0	ZNF804A	185510566	0.017000	0.18338	0.001000	0.08648	0.055000	0.15305	1.036000	0.30228	0.793000	0.33875	0.655000	0.94253	AGT	-	NULL		0.328	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	G	NM_194250	-		185802321	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	0.006	T	T	185802321	G	T	185802321	3	4	143	1	0	0	0	0	1	0	0	0	18177	1029	36	3	2212	3	ZNF804A	2	185802321	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	33280417	185802321	57397052	13	10630											
CAPN10	11132	genome.wustl.edu	37	chr2	241531381	241531381	+	Frame_Shift_Del	DEL	G	G	-													cctacgagcacctgtgggccGggcaggtggcggatgccctg							TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr2:241531381delG	ENST00000391984.2	+	4	698	c.502delG	c.(502-504)gggfs	p.G168fs	CAPN10_ENST00000391982.2_Frame_Shift_Del_p.G168fs|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.G168fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.G168fs	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	168	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CCTGTGGGCCGGGCAGGTGGC	0.647																																																	0								ENSG00000142330						34	40	38					2																	241531381		2203	4299	6502	CAPN10	SO:0001589	frameshift_variant	0				HGNC	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.502delG	2.37:g.241531381delG	ENSP00000375844:p.Gly168fs	Somatic	0	50	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Frame_Shift_Del	DEL							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Q169fs	ENST00000391984.2	37	c.502	CCDS42838.1	2																																																																																			-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.647	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	protein_coding	OTTHUMT00000257191.3	G	NM_023083			241531381	1	no_errors	ENST00000391984	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	241531381	G	-	241531381	7	5	143	1	0	1	0	1	0	0	0	0	2625	1116	39	0	516	0	CAPN10	2	241531381	Frame_Shift_Del	DEL	G	TCGA-HB-A2OT-01A-11D-A21Q-09	55729060	241531381	1667992	14	10631											
DCLK3	85443	genome.wustl.edu	37	chr3	36779370	36779370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggcctggtgtccttctTcacctccctcagcccctcct	7	19	3	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr3:36779370T>C	ENST00000416516.2	-	2	1271	c.781A>G	c.(781-783)Aag>Gag	p.K261E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	261						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGTCCTTCTTCACCTCCCTC	0.592																																																	0								ENSG00000163673						95	100	98					3																	36779370		1995	4167	6162	DCLK3	SO:0001583	missense	0			-	HGNC	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.781A>G	3.37:g.36779370T>C	ENSP00000394484:p.Lys261Glu	Somatic	0	47	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K261E	ENST00000416516.2	37	c.781	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	T	6.063	0.380017	0.11466	.	.	ENSG00000163673	ENST00000416516	T	0.66995	-0.24	5.03	-0.907	0.10521	.	0.496643	0.15075	N	0.281993	T	0.43722	0.1260	N	0.19112	0.55	0.09310	N	1	B	0.34103	0.437	B	0.27608	0.081	T	0.31779	-0.9931	10	0.62326	D	0.03	.	7.9987	0.30284	0.0:0.0717:0.3909:0.5373	.	261	Q9C098	DCLK3_HUMAN	E	261	ENSP00000394484:K261E	ENSP00000394484:K261E	K	-	1	0	DCLK3	36754374	0.141000	0.22595	0.001000	0.08648	0.013000	0.08279	1.559000	0.36320	0.010000	0.14839	0.533000	0.62120	AAG	-	NULL		0.592	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	protein_coding	OTTHUMT00000341727.1	T	XM_047355	-		36779370	-1	no_errors	ENST00000416516	ensembl	human	known	74_37	missense	SNP	0.193	C	C	36779370	T	C	36779370	3	2	143	1	0	0	0	0	1	0	0	0	4295	1792	62	5	1181	5	DCLK3	3	36779370	Missense_Mutation	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09		36779370	161243060	15	10632											
PIK3CA	5290	genome.wustl.edu	37	chr3	178947220	178947220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggctcaaagacaagaacAaaggagaaatgtgagttgta	12	4	1	4			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr3:178947220A>G	ENST00000263967.3	+	18	2813	c.2656A>G	c.(2656-2658)Aaa>Gaa	p.K886E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	886	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGACAAGAACAAAGGAGAAAT	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0								ENSG00000121879						86	80	82					3																	178947220		1899	4119	6018	PIK3CA	SO:0001583	missense	0			-	HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2656A>G	3.37:g.178947220A>G	ENSP00000263967:p.Lys886Glu	Somatic	0	92	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	93	16.22	Q14CW1|Q99762	Missense_Mutation	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K886E	ENST00000263967.3	37	c.2656	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898034	0.72639	.	.	ENSG00000121879	ENST00000263967	T	0.75367	-0.93	5.52	4.35	0.52113	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	N	0.21142	0.635	0.58432	D	0.999999	P	0.41366	0.747	P	0.45913	0.497	T	0.66344	-0.5947	10	0.44086	T	0.13	-20.8969	12.6379	0.56692	0.8615:0.1385:0.0:0.0	.	886	P42336	PK3CA_HUMAN	E	886	ENSP00000263967:K886E	ENSP00000263967:K886E	K	+	1	0	PIK3CA	180429914	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.916000	0.75776	0.909000	0.36697	0.366000	0.22137	AAA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	A		-		178947220	1	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178947220	A	G	178947220	3	3	143	1	0	0	0	0	1	0	0	0	11915	131	5	5	2722	5	PIK3CA	3	178947220	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	142167850	178947220	19075210	16	10633											
KIAA1109	84162	genome.wustl.edu	37	chr4	123188042	123188042	+	Frame_Shift_Del	DEL	T	T	-													cacctttcattttcagggacTttggactgcctcagagcaga							TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr4:123188042delT	ENST00000264501.4	+	46	7795	c.7422delT	c.(7420-7422)actfs	p.T2474fs	KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.T2474fs|KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.T2474fs			Q2LD37	K1109_HUMAN	KIAA1109	2474					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						TTTCAGGGACTTTGGACTGCC	0.413																																																	0								ENSG00000138688						169	155	160					4																	123188042		1905	4118	6023	KIAA1109	SO:0001589	frameshift_variant	0				HGNC	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.7422delT	4.37:g.123188042delT	ENSP00000264501:p.Thr2474fs	Somatic	0	51	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL							pfam_Fragile_site-assoc_C	p.L2475fs	ENST00000264501.4	37	c.7422	CCDS43267.1	4																																																																																			-	NULL		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	T	NM_020797			123188042	1	no_errors	ENST00000264501	ensembl	human	known	74_37	frame_shift_del	DEL	0.803	-	-	123188042	T	-	123188042	7	5	143	1	0	1	0	1	0	0	0	0	8210	1596	56	0	7596	0	KIAA1109	4	123188042	Frame_Shift_Del	DEL	T	TCGA-HB-A2OT-01A-11D-A21Q-09		123188042	67966234	17	10634											
PCDH18	54510	genome.wustl.edu	37	chr4	138442390	138442390	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtggcggcccacagttGgtggtgggattttgaaaatg	15	7	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr4:138442390G>T	ENST00000344876.4	-	4	3587	c.3201C>A	c.(3199-3201)acC>acA	p.T1067T	PCDH18_ENST00000510305.1_Silent_p.T278T|PCDH18_ENST00000511115.1_Silent_p.T247T|PCDH18_ENST00000412923.2_Silent_p.T1066T|PCDH18_ENST00000507846.1_Silent_p.T846T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1067	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCCACAGTTGGTGGTGGGAT	0.552																																																	0								ENSG00000189184						42	40	41					4																	138442390		2203	4300	6503	PCDH18	SO:0001819	synonymous_variant	0			-	HGNC	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3201C>A	4.37:g.138442390G>T		Somatic	0	26	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1067	ENST00000344876.4	37	c.3201	CCDS34064.1	4																																																																																			-	NULL		0.552	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	protein_coding	OTTHUMT00000364614.1	G	NM_019035	-		138442390	-1	no_errors	ENST00000344876	ensembl	human	known	74_37	silent	SNP	0.851	T	T	138442390	G	T	138442390	2	4	143	1	0	0	0	0	0	0	0	1	11515	1335	47	3		3	PCDH18	4	138442390	Silent	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	15254348	138442390	52711886	18	10635											
MAML3	55534	genome.wustl.edu	37	chr4	140811066	140811066	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgatttgagtgctgttgCtgctgctgctgctgctgctg	14	9	1	2	rs58015886|rs370122702		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr4:140811066C>T	ENST00000398940.1	-	2	108		c.e2-1		MAML3_ENST00000327122.5_Silent_p.Q352Q|MAML3_ENST00000509479.2_Silent_p.Q508Q					mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGtgctgttgctgctgctgct	0.512																																																	0								ENSG00000196782						45	53	50					4																	140811066		2180	4289	6469	MAML3	SO:0001630	splice_region_variant	0			-	HGNC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.109-1G>A	4.37:g.140811066C>T		Somatic	0	62	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09		Splice_Site	SNP							-	e2-1	ENST00000398940.1	37	c.109-1		4																																																																																			-	-		0.512	MAML3-202	KNOWN	basic	protein_coding	MAML3	protein_coding		C		-	Intron	140811066	-1	no_errors	ENST00000398940	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	140811066	C	T	140811066	5	4	143	1	0	0	0	0	0	0	1	0	9209	811	28	2	1908	2	MAML3	4	140811066	Splice_Site	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	2368676	140811066	50343210	19	10636											
SPOCK3	50859	genome.wustl.edu	37	chr4	168155291	168155292	+	Frame_Shift_Del	DEL	CA	CA	-													ctgactgcaccaagcggctgCacacacacacagtacggctg					rs557659762		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr4:168155291_168155292delCA	ENST00000357154.3	-	2	170_171	c.33_34delTG	c.(31-36)tgtgcafs	p.A14fs	SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000534949.1_5'Flank|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000535728.1_5'Flank|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.A14fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	14					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAAGCGGCTGCACACACACACA	0.609																																																	0								ENSG00000196104																																			SPOCK3	SO:0001589	frameshift_variant	0				HGNC	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.33_34delTG	4.37:g.168155301_168155302delCA	ENSP00000349677:p.Ala14fs	Somatic	0	59	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Frame_Shift_Del	DEL							pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.A12fs	ENST00000357154.3	37	c.34_33	CCDS54817.1	4																																																																																			-	NULL		0.609	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	protein_coding	OTTHUMT00000364091.1	CA				168155292	-1	no_errors	ENST00000357154	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	168155292	CA	-	168155291	7	5	143	1	0	1	0	1	0	0	0	0	15088	710	25	0	1320	0	SPOCK3	4	168155291	Frame_Shift_Del	DEL	CA	TCGA-HB-A2OT-01A-11D-A21Q-09	27344225	168155291	22998985	20	10637											
TSSK1B	83942	genome.wustl.edu	37	chr5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcttgtcagagccaggttCgggggtccacaagggttcag	14	10	3	1	rs371461523		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr5:112769636C>T	ENST00000390666.3	-	1	1092	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	301					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622													C|||	1	0.000199681	0	0	5008	,	,		17425	0		0	False		,,,				2504	0.001																0								ENSG00000212122	C	,LYS/GLU	0,4180		0,0,2090	35	39	38		,901	0.9	0.1	5		38	1,8489		0,1,4244	no	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,56	0,1,6334	TT,TC,CC		0.0118,0.0,0.0079	,benign	,301/368	112769636	1,12669	2090	4245	6335	TSSK1B	SO:0001583	missense	0			-	HGNC	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.901G>A	5.37:g.112769636C>T	ENSP00000375081:p.Glu301Lys	Somatic	0	33	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	B2R8D9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E301K	ENST00000390666.3	37	c.901	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467956	0.12402	0.0	1.18E-4	ENSG00000212122	ENST00000390666	T	0.68025	-0.3	0.9	0.9	0.19278	Protein kinase-like domain (1);	0.222293	0.22012	U	0.065853	T	0.35219	0.0924	N	0.08118	0	0.21697	N	0.999583	B	0.06786	0.001	B	0.01281	0.0	T	0.17018	-1.0383	10	0.08381	T	0.77	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	301	Q9BXA7	TSSK1_HUMAN	K	301	ENSP00000375081:E301K	ENSP00000375081:E301K	E	-	1	0	TSSK1B	112797535	0.001000	0.12720	0.050000	0.19076	0.051000	0.14879	-0.332000	0.07904	0.308000	0.22923	0.313000	0.20887	GAA	-	superfamily_Kinase-like_dom		0.622	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	protein_coding	OTTHUMT00000250774.2	C	NM_032028	-		112769636	-1	no_errors	ENST00000390666	ensembl	human	known	74_37	missense	SNP	0.590	T	T	112769636	C	T	112769636	3	4	143	1	0	0	0	0	1	0	0	0	16675	893	31	1	206	1	TSSK1B	5	112769636	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09		112769636	68145624	21	10638											
ZNF608	57507	genome.wustl.edu	37	chr5	124079849	124079849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctttaccaacatagaGtttcccatgagccctgaatc	5	13	1	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr5:124079849G>A	ENST00000306315.5	-	1	1269	c.834C>T	c.(832-834)aaC>aaT	p.N278N	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	278							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCAACATAGAGTTTCCCATGA	0.562																																																	0								ENSG00000168916						134	141	139					5																	124079849		2123	4179	6302	ZNF608	SO:0001819	synonymous_variant	0			-	HGNC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.834C>T	5.37:g.124079849G>A		Somatic	0	30	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP							NULL	p.N278	ENST00000306315.5	37	c.834	CCDS34219.1	5																																																																																			-	NULL		0.562	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	protein_coding	OTTHUMT00000371300.1	G	XM_114432	-		124079849	-1	no_errors	ENST00000306315	ensembl	human	known	74_37	silent	SNP	1.000	A	A	124079849	G	A	124079849	2	1	143	1	0	0	0	0	0	0	0	1	18041	1020	36	2		2	ZNF608	5	124079849	Silent	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	11310213	124079849	56835411	22	10639											
PPARGC1B	133522	genome.wustl.edu	37	chr5	149216579	149216579	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctctgttcccgcagccgctCaagctctggctcttcaccct	8	18	5	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr5:149216579C>G	ENST00000309241.5	+	8	2593	c.2561C>G	c.(2560-2562)tCa>tGa	p.S854*	PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.S790*|PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.S854*|PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.S815*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	854					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCAGCCGCTCAAGCTCTGGC	0.627																																																	0								ENSG00000155846						63	69	67					5																	149216579		2203	4300	6503	PPARGC1B	SO:0001587	stop_gained	0			-	HGNC	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2561C>G	5.37:g.149216579C>G	ENSP00000312649:p.Ser854*	Somatic	0	43	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Nonsense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S854*	ENST00000309241.5	37	c.2561	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.295862	0.98747	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.	.	.	5.8	5.8	0.92144	.	0.208573	0.34025	N	0.004339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.64	18.2397	0.89963	0.0:1.0:0.0:0.0	.	.	.	.	X	815;854;854;790	.	ENSP00000312649:S854X	S	+	2	0	PPARGC1B	149196772	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	5.443000	0.66581	2.747000	0.94245	0.462000	0.41574	TCA	-	NULL		0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	protein_coding	OTTHUMT00000252334.1	C	NM_133263	-		149216579	1	no_errors	ENST00000309241	ensembl	human	known	74_37	nonsense	SNP	0.998	G	G	149216579	C	G	149216579	4	3	143	1	0	0	0	0	0	1	0	0	12303	838	29	4	2598	4	PPARGC1B	5	149216579	Nonsense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	25136730	149216579	31698681	23	10640											
EBF1	1879	genome.wustl.edu	37	chr5	158126125	158126126	+	Frame_Shift_Del	DEL	AG	AG	-													tcaaggcaattctttcacatAggaggaacaatcatgccaga							TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr5:158126125_158126126delAG	ENST00000313708.6	-	16	2051_2052	c.1769_1770delCT	c.(1768-1770)cctfs	p.P590fs	EBF1_ENST00000517373.1_Frame_Shift_Del_p.P522fs|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Frame_Shift_Del_p.P559fs	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	590					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTTCACATAGGAGGAACAAT	0.361			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0								ENSG00000164330																																			EBF1	SO:0001589	frameshift_variant	0				HGNC	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1769_1770delCT	5.37:g.158126125_158126126delAG	ENSP00000322898:p.Pro590fs	Somatic	0	45	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	Q8IW11	Frame_Shift_Del	DEL							pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.P590fs	ENST00000313708.6	37	c.1770_1769	CCDS4343.1	5																																																																																			-	NULL		0.361	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	protein_coding	OTTHUMT00000252649.1	AG	NM_024007			158126126	-1	no_errors	ENST00000313708	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	158126126	AG	-	158126125	7	5	143	1	0	1	0	1	0	0	0	0	4882	407	15	0	9	0	EBF1	5	158126125	Frame_Shift_Del	DEL	AG	TCGA-HB-A2OT-01A-11D-A21Q-09	8909546	158126125	22789135	24	10641											
PRSS16	10279	genome.wustl.edu	37	chr6	27219026	27219026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctaatgagcaccgcgAtcggcgggtccctggaggta	15	11	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr6:27219026A>T	ENST00000230582.3	+	7	715	c.700A>T	c.(700-702)Atc>Ttc	p.I234F	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	234					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAGCACCGCGATCGGCGGGTC	0.667																																					NSCLC(178;1118 2105 17078 23587 44429)												0								ENSG00000112812						37	40	39					6																	27219026		2203	4299	6502	PRSS16	SO:0001583	missense	0			-	HGNC	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.700A>T	6.37:g.27219026A>T	ENSP00000230582:p.Ile234Phe	Somatic	0	69	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.55	O75416	Missense_Mutation	SNP							pfam_Peptidase_S28	p.I234F	ENST00000230582.3	37	c.700	CCDS4623.1	6	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655612	0.47467	.	.	ENSG00000112812	ENST00000230582	T	0.20881	2.04	4.38	1.75	0.24633	.	0.723579	0.12937	N	0.426928	T	0.04048	0.0113	L	0.34521	1.04	0.09310	N	1	P	0.35684	0.515	B	0.37304	0.246	T	0.39663	-0.9603	10	0.10111	T	0.7	-0.2492	4.882	0.13685	0.7083:0.1876:0.1042:0.0	.	234	Q9NQE7	TSSP_HUMAN	F	234	ENSP00000230582:I234F	ENSP00000230582:I234F	I	+	1	0	PRSS16	27327005	0.007000	0.16637	0.008000	0.14137	0.102000	0.19082	0.334000	0.19787	0.231000	0.21079	0.460000	0.39030	ATC	-	pfam_Peptidase_S28		0.667	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	protein_coding	OTTHUMT00000043418.2	A		-		27219026	1	no_errors	ENST00000230582	ensembl	human	known	74_37	missense	SNP	0.007	T	T	27219026	A	T	27219026	3	4	143	1	0	0	0	0	1	0	0	0	12621	333	12	5	726	5	PRSS16	6	27219026	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09		27219026	143896041	25	10642											
CDKN1A	1026	genome.wustl.edu	37	chr6	36652002	36652002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctaatggcgggctgcAtccaggaggcccgtgagcga	16	11	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr6:36652002A>C	ENST00000405375.1	+	2	359	c.124A>C	c.(124-126)Atc>Ctc	p.I42L	CDKN1A_ENST00000373711.2_Missense_Mutation_p.I42L|CDKN1A_ENST00000244741.5_Missense_Mutation_p.I42L|CDKN1A_ENST00000448526.2_Missense_Mutation_p.I76L|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	42					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGCGGGCTGCATCCAGGAGGC	0.662																																																	0								ENSG00000124762						44	40	41					6																	36652002		2203	4300	6503	CDKN1A	SO:0001583	missense	0			-	HGNC	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.124A>C	6.37:g.36652002A>C	ENSP00000384849:p.Ile42Leu	Somatic	0	55	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP							pfam_CDI	p.I76L	ENST00000405375.1	37	c.226	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	A	0.064	-1.218247	0.01542	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.06	-1.69	0.08186	.	1.599070	0.03741	N	0.255046	T	0.26231	0.0640	N	0.01168	-0.975	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.15178	-1.0446	10	0.11182	T	0.66	-2.7388	0.9324	0.01338	0.2002:0.4013:0.1548:0.2438	.	76;42;42	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	L	76;42;42;42	ENSP00000409259:I76L;ENSP00000244741:I42L;ENSP00000384849:I42L;ENSP00000362815:I42L	ENSP00000244741:I42L	I	+	1	0	CDKN1A	36759980	0.001000	0.12720	0.002000	0.10522	0.042000	0.13812	-0.212000	0.09319	-0.356000	0.08187	-0.516000	0.04426	ATC	-	pfam_CDI		0.662	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	protein_coding	OTTHUMT00000040354.1	A	NM_078467	-		36652002	1	no_errors	ENST00000448526	ensembl	human	known	74_37	missense	SNP	0.000	C	C	36652002	A	C	36652002	3	2	143	1	0	0	0	0	1	0	0	0	3160	217	8	5	126	5	CDKN1A	6	36652002	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	9432976	36652002	134463065	26	10643											
C6orf165	154313	genome.wustl.edu	37	chr6	88120317	88120317	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttctaggtgaaagctgttgtCctggatccaagtaatggctt	11	7	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr6:88120317C>G	ENST00000507897.1	+	3	206	c.123C>G	c.(121-123)gtC>gtG	p.V41V	C6ORF165_ENST00000369562.4_Silent_p.V41V			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	41										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AAGCTGTTGTCCTGGATCCAA	0.348																																																	0								ENSG00000272514						151	146	148					6																	88120317		2203	4300	6503	C6ORF165	SO:0001819	synonymous_variant	0			-	Uniprot_gn	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.123C>G	6.37:g.88120317C>G		Somatic	0	93	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	57	28.75	A8K969|E1P507|Q8N9U4	Silent	SNP							pfam_DUF3508	p.V41	ENST00000507897.1	37	c.123	CCDS34498.1	6																																																																																			-	NULL		0.348	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	protein_coding	OTTHUMT00000470406.1	C	NM_178823	-		88120317	1	no_errors	ENST00000369562	ensembl	human	known	74_37	silent	SNP	0.863	G	G	88120317	C	G	88120317	2	3	143	1	0	0	0	0	0	0	0	1	2343	842	30	4		4	C6orf165	6	88120317	Silent	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	51468315	88120317	82994750	27	10644											
ZDHHC4	55146	genome.wustl.edu	37	chr7	6621842	6621842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctatctgctgctaggtgtAaacctgttttttttcaccct	6	12	2	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr7:6621842A>G	ENST00000396706.2	+	5	773	c.330A>G	c.(328-330)gtA>gtG	p.V110V	ZDHHC4_ENST00000396713.2_Silent_p.V110V|ZDHHC4_ENST00000396707.2_Silent_p.V110V|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Silent_p.V110V|ZDHHC4_ENST00000335965.6_Silent_p.V110V|ZDHHC4_ENST00000405731.3_Silent_p.V110V			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	110						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGCTAGGTGTAAACCTGTTTT	0.458																																																	0								ENSG00000136247						271	242	252					7																	6621842		2203	4300	6503	ZDHHC4	SO:0001819	synonymous_variant	0			-	HGNC	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.330A>G	7.37:g.6621842A>G		Somatic	0	96	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	57	29.63	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.V110	ENST00000396706.2	37	c.330	CCDS5352.1	7																																																																																			-	NULL		0.458	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC4	protein_coding	OTTHUMT00000207477.3	A	NM_018106	-		6621842	1	no_errors	ENST00000335965	ensembl	human	known	74_37	silent	SNP	0.630	G	G	6621842	A	G	6621842	2	3	143	1	0	0	0	0	0	0	0	1	17624	349	13	5		5	ZDHHC4	7	6621842	Silent	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09		6621842	152516821	28	10645											
PCLO	27445	genome.wustl.edu	37	chr7	82579403	82579403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgtcagcctctgtcaTgctgtcaccatatttcccta	7	13	5	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr7:82579403T>G	ENST00000333891.9	-	6	10838	c.10501A>C	c.(10501-10503)Atg>Ctg	p.M3501L	PCLO_ENST00000423517.2_Missense_Mutation_p.M3501L|PCLO_ENST00000437081.1_Missense_Mutation_p.M221L	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						GCCTCTGTCATGCTGTCACCA	0.463																																																	0								ENSG00000186472						143	130	135					7																	82579403		1961	4156	6117	PCLO	SO:0001583	missense	0			-	HGNC	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.10501A>C	7.37:g.82579403T>G	ENSP00000334319:p.Met3501Leu	Somatic	0	57	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	49	26.87		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.M3501L	ENST00000333891.9	37	c.10501	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	5.890	0.348363	0.11126	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.33654	2.45;2.45;1.4	5.39	1.67	0.24075	.	.	.	.	.	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.0;0.005;0.005	B;B;B	0.11329	0.001;0.006;0.006	T	0.21724	-1.0237	9	0.87932	D	0	.	6.3833	0.21546	0.0:0.1408:0.1334:0.7258	.	3432;3501;3501	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3432;3501;3501;221	ENSP00000334319:M3501L;ENSP00000388393:M3501L;ENSP00000393760:M221L	ENSP00000334319:M3501L	M	-	1	0	PCLO	82417339	0.004000	0.15560	0.025000	0.17156	0.870000	0.49936	0.802000	0.27069	0.042000	0.15717	0.533000	0.62120	ATG	-	NULL		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	T	NM_014510	-		82579403	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.406	G	G	82579403	T	G	82579403	3	3	143	1	0	0	0	0	1	0	0	0	11585	1464	51	5	5024	5	PCLO	7	82579403	Missense_Mutation	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09	75957561	82579403	76559260	29	10646											
PRSS1	5644	genome.wustl.edu	37	chr7	142459736	142459736	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatacgacaggaagactctGaacaatgacatcatgttaat	7	8	2	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr7:142459736G>T	ENST00000311737.7	+	3	318	c.312G>T	c.(310-312)ctG>ctT	p.L104L	PRSS1_ENST00000486171.1_Silent_p.L118L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		L -> P (in PCTT). {ECO:0000269|PubMed:11866271}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGAAGACTCTGAACAATGACA	0.547																																																	0								ENSG00000204983						235	218	223					7																	142459736		2203	4300	6503	PRSS1	SO:0001819	synonymous_variant	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.312G>T	7.37:g.142459736G>T		Somatic	1	104	0.95		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	94	12.84	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L104	ENST00000311737.7	37	c.312	CCDS5872.1	7																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	G		-		142459736	1	no_errors	ENST00000311737	ensembl	human	known	74_37	silent	SNP	1.000	T	T	142459736	G	T	142459736	2	4	143	1	0	0	0	0	0	0	0	1	12619	1277	45	3		3	PRSS1	7	142459736	Silent	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	59880333	142459736	16678927	30	10647											
LPL	4023	genome.wustl.edu	37	chr8	19819651	19819651	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgttctagggagaaaGtgtctcatttgcagaaagga	11	6	4	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr8:19819651G>C	ENST00000311322.8	+	9	1818	c.1348G>C	c.(1348-1350)Gtg>Ctg	p.V450L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	450	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TAGGGAGAAAGTGTCTCATTT	0.433																																																	0								ENSG00000175445						169	156	161					8																	19819651		2203	4300	6503	LPL	SO:0001583	missense	0			-	HGNC		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1348G>C	8.37:g.19819651G>C	ENSP00000309757:p.Val450Leu	Somatic	0	33	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP							pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase	p.V450L	ENST00000311322.8	37	c.1348	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	G	7.351	0.622850	0.14193	.	.	ENSG00000175445	ENST00000311322;ENST00000535763	T	0.65732	-0.17	5.89	3.75	0.43078	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.554019	0.20679	N	0.087682	T	0.46983	0.1421	L	0.36672	1.1	0.24403	N	0.994692	B	0.14438	0.01	B	0.13407	0.009	T	0.51092	-0.8749	8	.	.	.	-12.1342	7.5089	0.27562	0.294:0.0:0.706:0.0	.	450	P06858	LIPL_HUMAN	L	450;436	ENSP00000309757:V450L	.	V	+	1	0	LPL	19863931	0.481000	0.25941	0.195000	0.23364	0.840000	0.47671	1.813000	0.38962	1.458000	0.47871	0.655000	0.94253	GTG	-	pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase		0.433	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	protein_coding	OTTHUMT00000089113.3	G		-		19819651	1	no_errors	ENST00000311322	ensembl	human	known	74_37	missense	SNP	0.140	C	C	19819651	G	C	19819651	3	2	143	1	0	0	0	0	1	0	0	0	8923	1029	36	4	1382	4	LPL	8	19819651	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		19819651	126544371	31	10648											
BMP1	649	genome.wustl.edu	37	chr8	22069204	22069204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacctgcgatacaccaGcaccaagttccaggacacac	6	16	0	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr8:22069204G>A	ENST00000306385.5	+	20	3594	c.2924G>A	c.(2923-2925)aGc>aAc	p.S975N	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	975	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGATACACCAGCACCAAGTTC	0.582																																																	0								ENSG00000168487						128	105	113					8																	22069204		2203	4300	6503	BMP1	SO:0001583	missense	0			-	HGNC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2924G>A	8.37:g.22069204G>A	ENSP00000305714:p.Ser975Asn	Somatic	0	33	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP							pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.S975N	ENST00000306385.5	37	c.2924	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.402170	0.96030	.	.	ENSG00000168487	ENST00000306385	T	0.36699	1.24	4.7	4.7	0.59300	CUB (4);	0.000000	0.43416	U	0.000573	T	0.56171	0.1967	M	0.91354	3.2	0.80722	D	1	P	0.48503	0.911	P	0.47075	0.536	T	0.69829	-0.5039	10	0.66056	D	0.02	.	16.5807	0.84714	0.0:0.0:1.0:0.0	.	975	P13497	BMP1_HUMAN	N	975	ENSP00000305714:S975N	ENSP00000305714:S975N	S	+	2	0	BMP1	22125149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.631000	0.98424	2.441000	0.82636	0.655000	0.94253	AGC	-	pirsf_BMP_1/tolloid-like,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	protein_coding	OTTHUMT00000214995.2	G	NM_006132	-		22069204	1	no_errors	ENST00000306385	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22069204	G	A	22069204	3	1	143	1	0	0	0	0	1	0	0	0	1456	971	34	2	3092	2	BMP1	8	22069204	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	2249553	22069204	124294818	32	10649											
GDF6	392255	genome.wustl.edu	37	chr8	97156998	97156998	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagcgcagcgggaagtcGcatacaccctcgcagtgata	13	12	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr8:97156998G>T	ENST00000287020.5	-	2	1260	c.1161C>A	c.(1159-1161)tgC>tgA	p.C387*		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	387					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGGGAAGTCGCATACACCCT	0.642																																																	0								ENSG00000156466						123	107	113					8																	97156998		2203	4300	6503	GDF6	SO:0001587	stop_gained	0			-	HGNC		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1161C>A	8.37:g.97156998G>T	ENSP00000287020:p.Cys387*	Somatic	0	66	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q6PI58	Nonsense_Mutation	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.C387*	ENST00000287020.5	37	c.1161	CCDS34926.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.724861	0.96847	.	.	ENSG00000156466	ENST00000287020	.	.	.	4.82	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1677	0.31237	0.1861:0.0:0.8139:0.0	.	.	.	.	X	387	.	ENSP00000287020:C387X	C	-	3	2	GDF6	97226174	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.282000	0.51693	2.498000	0.84270	0.557000	0.71058	TGC	-	pfam_TGF-b_C,smart_TGF-b_C		0.642	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	protein_coding	OTTHUMT00000379862.2	G	NM_001001557	-		97156998	-1	no_errors	ENST00000287020	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	97156998	G	T	97156998	4	4	143	1	0	0	0	0	0	1	0	0	6319	1079	38	3	210	3	GDF6	8	97156998	Nonsense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	75087794	97156998	49207024	33	10650											
KCNK9	51305	genome.wustl.edu	37	chr8	140631178	140631178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catagacacgtcagtgttgcGcatgccacagcacttcttaa	8	12	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr8:140631178G>C	ENST00000520439.1	-	2	511	c.448C>G	c.(448-450)Cgc>Ggc	p.R150G	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.R150G	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	150					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)	p.R150C(1)		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)	TCAGTGTTGCGCATGCCACAG	0.597																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000169427						125	100	109					8																	140631178		2203	4300	6503	KCNK9	SO:0001583	missense	0			-	HGNC	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.448C>G	8.37:g.140631178G>C	ENSP00000430676:p.Arg150Gly	Somatic	0	55	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q2M290|Q540F2	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl	p.R150G	ENST00000520439.1	37	c.448	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055410	0.55325	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.24350	1.86;1.86;1.86	5.85	4.94	0.65067	.	0.061993	0.64402	D	0.000002	T	0.40145	0.1105	M	0.76838	2.35	0.46437	D	0.999046	P	0.42123	0.771	P	0.47430	0.547	T	0.31223	-0.9951	10	0.62326	D	0.03	.	13.2389	0.59985	0.0:0.0:0.6745:0.3255	.	150	Q9NPC2	KCNK9_HUMAN	G	150	ENSP00000429847:R150G;ENSP00000302166:R150G;ENSP00000430676:R150G	ENSP00000302166:R150G	R	-	1	0	KCNK9	140700360	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.798000	0.38814	2.753000	0.94483	0.655000	0.94253	CGC	-	pirsf_2pore_dom_K_chnl_TASK		0.597	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	protein_coding	OTTHUMT00000378473.1	G	NM_016601	-		140631178	-1	no_errors	ENST00000303015	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140631178	G	C	140631178	3	2	143	1	0	0	0	0	1	0	0	0	8074	1087	38	4	680	4	KCNK9	8	140631178	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	43474180	140631178	5732844	34	10651											
KIAA1797	54914	genome.wustl.edu	37	chr9	20789525	20789525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttcttctgctggctcAcctccttgttgaagacaaag	8	12	3	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr9:20789525A>C	ENST00000380249.1	+	13	1737	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	FOCAD_ENST00000338382.6_Missense_Mutation_p.H458P|SNORA30_ENST00000365319.1_RNA	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	458						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTGCTGGCTCACCTCCTTGTT	0.463																																																	0								ENSG00000188352						141	130	134					9																	20789525		2203	4300	6503	FOCAD	SO:0001583	missense	0			-	HGNC	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1373A>C	9.37:g.20789525A>C	ENSP00000369599:p.His458Pro	Somatic	0	48	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP							pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.H458P	ENST00000380249.1	37	c.1373	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652677	0.47362	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.06933	3.24;3.24	5.71	5.71	0.89125	.	0.399491	0.27586	N	0.018715	T	0.06917	0.0176	N	0.14661	0.345	0.40919	D	0.98429	B	0.33448	0.412	B	0.34722	0.188	T	0.42982	-0.9419	10	0.45353	T	0.12	-24.1523	14.5549	0.68094	1.0:0.0:0.0:0.0	.	458	Q5VW36	K1797_HUMAN	P	458	ENSP00000369599:H458P;ENSP00000344307:H458P	ENSP00000344307:H458P	H	+	2	0	KIAA1797	20779525	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.979000	0.70508	2.178000	0.69098	0.533000	0.62120	CAC	-	NULL		0.463	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	protein_coding	OTTHUMT00000143442.1	A	NM_017794	-		20789525	1	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	SNP	0.999	C	C	20789525	A	C	20789525	3	2	143	1	0	0	0	0	1	0	0	0	8260	159	6	5	1411	5	KIAA1797	9	20789525	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09		20789525	120423906	35	10652											
ACO1	48	genome.wustl.edu	37	chr9	32418329	32418329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgtcaatcccagtggGgttcccaggcttttcacaac	8	13	2	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr9:32418329G>A	ENST00000309951.6	+	6	616	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	ACO1_ENST00000379923.1_Missense_Mutation_p.G160S|ACO1_ENST00000541043.1_Missense_Mutation_p.G61S	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	160					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		ATCCCAGTGGGGTTCCCAGGC	0.478																																																	0								ENSG00000122729						59	62	61					9																	32418329		2203	4300	6503	ACO1	SO:0001583	missense	0			-	HGNC	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.478G>A	9.37:g.32418329G>A	ENSP00000309477:p.Gly160Ser	Somatic	0	143	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	78	20.20	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP							pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.G160S	ENST00000309951.6	37	c.478	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505548	0.85282	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.44482	0.92;0.92;0.92	6.08	5.18	0.71444	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.67971	-0.5532	10	0.87932	D	0	-20.9153	14.4409	0.67318	0.0715:0.0:0.9285:0.0	.	160	P21399	ACOC_HUMAN	S	196;160;160;160;61	ENSP00000309477:G160S;ENSP00000369255:G160S;ENSP00000438733:G61S	ENSP00000309477:G160S	G	+	1	0	ACO1	32408329	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.760000	0.62235	1.584000	0.49913	0.655000	0.94253	GGT	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2		0.478	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	protein_coding	OTTHUMT00000051998.3	G	NM_002197	-		32418329	1	no_errors	ENST00000309951	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32418329	G	A	32418329	3	1	143	1	0	0	0	0	1	0	0	0	146	1232	43	2	496	2	ACO1	9	32418329	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	11628804	32418329	108795102	36	10653											
ACO1	48	genome.wustl.edu	37	chr9	32419050	32419050	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcaggtgtcggtggtattGaagcagaagctgtcatgctg	15	6	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr9:32419050G>A	ENST00000309951.6	+	7	811	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ACO1_ENST00000379923.1_Missense_Mutation_p.E225K|ACO1_ENST00000541043.1_Missense_Mutation_p.E126K	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	225					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.E225K(1)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGGTGGTATTGAAGCAGAAGC	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000122729						177	127	144					9																	32419050		2203	4300	6503	ACO1	SO:0001583	missense	0			-	HGNC	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.673G>A	9.37:g.32419050G>A	ENSP00000309477:p.Glu225Lys	Somatic	0	61	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP							pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.E225K	ENST00000309951.6	37	c.673	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.516233	0.96402	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.26373	1.74;1.74;1.74	5.64	5.64	0.86602	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83475	0.0061	10	0.87932	D	0	-19.8444	18.4726	0.90779	0.0:0.0:1.0:0.0	.	261;225	Q59FI0;P21399	.;ACOC_HUMAN	K	261;225;225;225;126	ENSP00000309477:E225K;ENSP00000369255:E225K;ENSP00000438733:E126K	ENSP00000309477:E225K	E	+	1	0	ACO1	32409050	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.869000	0.99810	2.637000	0.89404	0.563000	0.77884	GAA	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2		0.488	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	protein_coding	OTTHUMT00000051998.3	G	NM_002197	-		32419050	1	no_errors	ENST00000309951	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32419050	G	A	32419050	3	1	143	1	0	0	0	0	1	0	0	0	146	1291	45	2	695	2	ACO1	9	32419050	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	721	32419050	108794381	37	10654											
MRC1	4360	genome.wustl.edu	37	chr10	17875749	17875749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaactccaaatccgcttTaacgtggcaccaggcgagga	10	11	0	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr10:17875749T>C	ENST00000331429.2	+	4	816	c.713T>C	c.(712-714)tTa>tCa	p.L238S	MRC1L1_ENST00000457317.1_Missense_Mutation_p.L238S																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATCCGCTTTAACGTGGCAC	0.468																																																	0								ENSG00000183748						89	81	84					10																	17875749		1964	3896	5860	MRC1L1	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000331429.2:c.713T>C	10.37:g.17875749T>C	ENSP00000332124:p.Leu238Ser	Somatic	0	99	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	51	21.54		Missense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.L238S	ENST00000331429.2	37	c.713		10	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967148	0.53507	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.19806	2.12;2.12	4.25	4.25	0.50352	.	0.000000	0.42682	U	0.000662	T	0.47021	0.1423	.	.	.	0.40803	D	0.983358	D	0.89917	1.0	D	0.97110	1.0	T	0.62835	-0.6770	8	0.87932	D	0	-7.6466	13.7063	0.62641	0.0:0.0:0.0:1.0	.	238	B9EJA8	.	S	238	ENSP00000332124:L238S;ENSP00000391843:L238S	ENSP00000332124:L238S	L	+	2	0	AL928580.1	17915755	1.000000	0.71417	0.952000	0.39060	0.172000	0.22775	7.968000	0.87980	1.707000	0.51288	0.451000	0.29950	TTA	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.468	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	101928757	protein_coding	OTTHUMT00000047054.1	T		-		17875749	1	no_errors	ENST00000457317	ensembl	human	known	74_37	missense	SNP	1.000	C	C	17875749	T	C	17875749	3	2	143	1	0	0	0	0	1	0	0	0	9758	1764	61	5	727	5	MRC1	10	17875749	Missense_Mutation	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09		17875749	117658998	38	10655											
PRKG1	5592	genome.wustl.edu	37	chr10	52834636	52834636	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatctcagccatgtgaccCtgcccttctaccccaagagc	8	16	2	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr10:52834636C>A	ENST00000401604.2	+	2	460				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Missense_Mutation_p.L96M			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCATGTGACCCTGCCCTTCTA	0.672																																																	0								ENSG00000185532						174	126	142					10																	52834636		2203	4300	6503	PRKG1	SO:0001627	intron_variant	0			-	HGNC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.267-78288C>A	10.37:g.52834636C>A		Somatic	0	107	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	53	30.26	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP							pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.L96M	ENST00000401604.2	37	c.286	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473844	0.84640	.	.	ENSG00000185532	ENST00000373980	D	0.86627	-2.15	5.47	5.47	0.80525	.	0.090958	0.45867	D	0.000333	D	0.91229	0.7236	M	0.62723	1.935	0.80722	D	1	P	0.43633	0.813	P	0.55455	0.776	D	0.91255	0.5032	10	0.59425	D	0.04	-5.4253	17.1675	0.86820	0.0:1.0:0.0:0.0	.	96	Q13976-2	.	M	96	ENSP00000363092:L96M	ENSP00000363092:L96M	L	+	1	2	PRKG1	52504642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.129000	0.77225	2.720000	0.93068	0.655000	0.94253	CTG	-	pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like		0.672	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	protein_coding		C		-		52834636	1	no_errors	ENST00000373980	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52834636	C	A	52834636	1	1	143	0	1	0	0	0	0	0	0	0	12527	680	24	3		3	PRKG1	10	52834636	Intron	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	34958887	52834636	82700111	39	10656											
SIRT3	23410	genome.wustl.edu	37	chr11	218993	218993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccggttgatgagcagtcGgggaactgagctccgcacgg	16	11	0	3	rs199874973		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:218993G>A	ENST00000382743.4	-	6	1120	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	SIRT3_ENST00000532956.1_Nonsense_Mutation_p.R286*|SIRT3_ENST00000529382.1_Nonsense_Mutation_p.R198*|SIRT3_ENST00000525319.1_Nonsense_Mutation_p.R259*|SIRT3_ENST00000524564.1_Nonsense_Mutation_p.R276*	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	340	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGAGCAGTCGGGGAACTGAG	0.622																																																	0								ENSG00000142082						53	50	51					11																	218993		2203	4300	6503	SIRT3	SO:0001587	stop_gained	0			-	HGNC	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1018C>T	11.37:g.218993G>A	ENSP00000372191:p.Arg340*	Somatic	0	72	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	B7Z5U6|Q9Y6E8	Nonsense_Mutation	SNP							pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.R340*	ENST00000382743.4	37	c.1018	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.959209	0.97145	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0679	17.833	0.88688	0.0:0.0:1.0:0.0	.	.	.	.	X	340;259;276;286;198	.	ENSP00000372191:R340X	R	-	1	2	SIRT3	208993	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.805000	0.99149	2.543000	0.85770	0.555000	0.69702	CGA	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom		0.622	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	protein_coding	OTTHUMT00000239288.3	G		rs199874973		218993	-1	no_errors	ENST00000382743	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	218993	G	A	218993	4	1	143	1	0	0	0	0	0	1	0	0	14347	1124	39	1	189	1	SIRT3	11	218993	Nonsense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		218993	134787523	40	10657											
INS	723961	genome.wustl.edu	37	chr11	2182195	2182195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggaggcgcatccacaGggccatggcagaaggacagt	17	10	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:2182195G>A	ENST00000397270.1	-	2	65	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000397262.1_Silent_p.L3L|INS_ENST00000250971.3_Silent_p.L3L|INS_ENST00000512523.1_Silent_p.L3L|INS_ENST00000381330.4_Silent_p.L3L	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	3						extracellular region (GO:0005576)				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)		CGCATCCACAGGGCCATGGCA	0.677																																																	0								ENSG00000129965						33	31	32					11																	2182195		2197	4292	6489	INS-IGF2	SO:0001819	synonymous_variant	0			-	HGNC	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.7C>T	11.37:g.2182195G>A		Somatic	0	62	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q1WM24	Silent	SNP							pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin	p.L3	ENST00000397270.1	37	c.7	CCDS41598.1	11																																																																																			-	NULL		0.677	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	INS-IGF2	protein_coding	OTTHUMT00000388404.1	G	NM_001042376.2	-		2182195	-1	no_errors	ENST00000356578	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2182195	G	A	2182195	2	1	143	1	0	0	0	0	0	0	0	1	7764	991	35	2		2	INS	11	2182195	Silent	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	1963202	2182195	132824321	41	10658											
OR51S1	119692	genome.wustl.edu	37	chr11	4869965	4869965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggagacccaggcatcgAaaagaaatggccaggctgat	13	8	0	4			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:4869965A>G	ENST00000322101.2	-	1	549	c.474T>C	c.(472-474)ttT>ttC	p.F158F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		CCAGGCATCGAAAAGAAATGG	0.547																																																	0								ENSG00000176922						99	99	99					11																	4869965		2201	4298	6499	OR51S1	SO:0001819	synonymous_variant	0			-	HGNC	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.474T>C	11.37:g.4869965A>G		Somatic	0	33	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.00	B9EGZ1|Q6IFI2	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F158	ENST00000322101.2	37	c.474	CCDS31362.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	protein_coding	OTTHUMT00000142179.1	A	NM_001004758	-		4869965	-1	no_errors	ENST00000322101	ensembl	human	known	74_37	silent	SNP	0.000	G	G	4869965	A	G	4869965	2	3	143	1	0	0	0	0	0	0	0	1	11107	243	9	5		5	OR51S1	11	4869965	Silent	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	2687770	4869965	130136551	42	10659											
MRVI1	10335	genome.wustl.edu	37	chr11	10653562	10653562	+	Frame_Shift_Del	DEL	A	A	-													agatgtcagggaggcagtggAcaccttcaagtgtcggtgag					rs202082096		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:10653562delA	ENST00000436272.1	-	3	427	c.349delT	c.(349-351)tccfs	p.S117fs	MRVI1_ENST00000541483.1_Frame_Shift_Del_p.S126fs|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000423302.2_Frame_Shift_Del_p.S126fs|MRVI1_ENST00000531107.1_Frame_Shift_Del_p.S117fs|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Frame_Shift_Del_p.S35fs|MRVI1_ENST00000547195.1_Frame_Shift_Del_p.S35fs|MRVI1_ENST00000552103.1_Frame_Shift_Del_p.S35fs|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000421747.1_Frame_Shift_Del_p.S117fs			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	117					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGGCAGTGGACACCTTCAAG	0.488																																																	0								ENSG00000072952						87	92	90					11																	10653562		2085	4203	6288	MRVI1	SO:0001589	frameshift_variant	0				HGNC	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.349delT	11.37:g.10653562delA	ENSP00000412229:p.Ser117fs	Somatic	0	58	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Frame_Shift_Del	DEL							pfam_MRVI1	p.S117fs	ENST00000436272.1	37	c.349		11																																																																																			-	NULL		0.488	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	protein_coding		A	NM_001098579			10653562	-1	no_errors	ENST00000421747	ensembl	human	known	74_37	frame_shift_del	DEL	0.990	-	-	10653562	A	-	10653562	7	5	143	1	0	1	0	1	0	0	0	0	9855	275	10	0	2434	0	MRVI1	11	10653562	Frame_Shift_Del	DEL	A	TCGA-HB-A2OT-01A-11D-A21Q-09	5783597	10653562	124352954	43	10660											
UNC93B1	81622	genome.wustl.edu	37	chr11	67764078	67764078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctgtacttaccaaggCgataccagtgcaggcaaaga	12	10	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:67764078C>T	ENST00000227471.2	-	9	1160	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	362					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											CTTACCAAGGCGATACCAGTG	0.468																																																	0								ENSG00000110057						42	46	44					11																	67764078		1608	3246	4854	UNC93B1	SO:0001583	missense	0			-	HGNC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1081G>A	11.37:g.67764078C>T	ENSP00000227471:p.Ala361Thr	Somatic	0	20	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	O95764|Q569H6|Q710D4	Missense_Mutation	SNP							pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A361T	ENST00000227471.2	37	c.1081		11	.	.	.	.	.	.	.	.	.	.	.	6.734	0.504249	0.12822	.	.	ENSG00000110057	ENST00000227471	T	0.17528	2.27	5.09	0.839	0.18907	.	0.485095	0.24937	N	0.034415	T	0.04724	0.0128	N	0.03608	-0.345	0.29881	N	0.826041	B	0.09022	0.002	B	0.06405	0.002	T	0.41662	-0.9496	10	0.02654	T	1	-11.2904	5.3645	0.16105	0.1353:0.5329:0.0:0.3317	.	362	Q9H1C4	UN93B_HUMAN	T	361	ENSP00000227471:A361T	ENSP00000227471:A361T	A	-	1	0	UNC93B1	67520654	0.424000	0.25490	0.508000	0.27688	0.907000	0.53573	0.423000	0.21313	0.319000	0.23209	-0.224000	0.12420	GCC	-	NULL		0.468	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		C	NM_030930	-		67764078	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	SNP	0.773	T	T	67764078	C	T	67764078	3	4	143	1	0	0	0	0	1	0	0	0	17004	768	27	1	725	1	UNC93B1	11	67764078	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	57110516	67764078	67242438	44	10661											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103191767	103191767	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaaattataggtgccaaagAtgtacaatgggaatttgtac	9	4	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:103191767A>T	ENST00000375735.2	+	81	11879	c.11735A>T	c.(11734-11736)gAt>gTt	p.D3912V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D3919V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3912					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)		GGTGCCAAAGATGTACAATGG	0.299																																																	0								ENSG00000187240						64	59	60					11																	103191767		1800	4067	5867	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.11735A>T	11.37:g.103191767A>T	ENSP00000364887:p.Asp3912Val	Somatic	0	68	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.62	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D3919V	ENST00000375735.2	37	c.11756	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	13.90	2.376107	0.42105	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.08458	3.09;3.09	5.81	5.81	0.92471	Dynein heavy chain (1);	0.298098	0.27673	N	0.018328	T	0.10637	0.0260	L	0.45137	1.4	0.80722	D	1	B;B	0.20887	0.034;0.049	B;B	0.22152	0.038;0.017	T	0.06972	-1.0797	10	0.40728	T	0.16	.	16.1566	0.81673	1.0:0.0:0.0:0.0	.	3912;3919	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	3912;3919;158	ENSP00000364887:D3912V;ENSP00000381167:D3919V	ENSP00000364887:D3912V	D	+	2	0	DYNC2H1	102696977	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	3.373000	0.52394	2.225000	0.72522	0.528000	0.53228	GAT	-	pfam_Dynein_heavy_dom		0.299	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	A	XM_370652	-		103191767	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103191767	A	T	103191767	3	4	143	1	0	0	0	0	1	0	0	0	4848	333	12	5	12082	5	DYNC2H1	11	103191767	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	35427689	103191767	31814749	45	10662											
ANKK1	255239	genome.wustl.edu	37	chr11	113270544	113270544	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagagagccacgcaaAcatgggtgctcttggagctg	15	10	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:113270544A>T	ENST00000303941.3	+	8	1947	c.1853A>T	c.(1852-1854)aAc>aTc	p.N618I		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	618							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGCCACGCAAACATGGGTGCT	0.632																																																	0								ENSG00000170209						21	26	25					11																	113270544		2126	4249	6375	ANKK1	SO:0001583	missense	0			-	HGNC	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1853A>T	11.37:g.113270544A>T	ENSP00000306678:p.Asn618Ile	Somatic	0	24	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93		Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.N618I	ENST00000303941.3	37	c.1853	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	A	8.197	0.797211	0.16327	.	.	ENSG00000170209	ENST00000303941	T	0.67345	-0.26	4.87	3.72	0.42706	Ankyrin repeat-containing domain (4);	0.577950	0.15940	N	0.237252	T	0.67832	0.2935	M	0.75777	2.31	0.09310	N	1	P	0.35433	0.501	B	0.41764	0.366	T	0.62576	-0.6825	10	0.59425	D	0.04	-14.4435	6.3332	0.21282	0.7783:0.0:0.0794:0.1423	.	618	Q8NFD2	ANKK1_HUMAN	I	618	ENSP00000306678:N618I	ENSP00000306678:N618I	N	+	2	0	ANKK1	112775754	0.007000	0.16637	0.012000	0.15200	0.038000	0.13279	2.339000	0.43965	0.869000	0.35703	0.460000	0.39030	AAC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	protein_coding	OTTHUMT00000395830.1	A	NM_178510	-		113270544	1	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	SNP	0.000	T	T	113270544	A	T	113270544	3	4	143	1	0	0	0	0	1	0	0	0	631	43	2	5	1883	5	ANKK1	11	113270544	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	10078777	113270544	21735972	46	10663											
OR8A1	390275	genome.wustl.edu	37	chr11	124440850	124440850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctctgtgttctacaccAcggtaatccccatgttgaat	8	12	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:124440850A>G	ENST00000284287.3	+	1	958	c.886A>G	c.(886-888)Acg>Gcg	p.T296A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	296					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)			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)		GTTCTACACCACGGTAATCCC	0.473																																																	0								ENSG00000196119						80	71	74					11																	124440850		2201	4299	6500	OR8A1	SO:0001583	missense	0			-	HGNC	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.886A>G	11.37:g.124440850A>G	ENSP00000284287:p.Thr296Ala	Somatic	0	65	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q6IEW7|Q96RC6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T296A	ENST00000284287.3	37	c.886	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764684	0.31228	.	.	ENSG00000196119	ENST00000284287	T	0.00084	8.75	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.294787	0.24343	N	0.039348	T	0.00109	0.0003	N	0.17764	0.52	0.32849	D	0.506354	B	0.14438	0.01	B	0.26693	0.072	T	0.27088	-1.0084	10	0.34782	T	0.22	.	7.4946	0.27481	0.8401:0.0:0.1599:0.0	.	296	Q8NGG7	OR8A1_HUMAN	A	296	ENSP00000284287:T296A	ENSP00000284287:T296A	T	+	1	0	OR8A1	123946060	0.000000	0.05858	1.000000	0.80357	0.858000	0.48976	0.056000	0.14256	2.098000	0.63641	0.528000	0.53228	ACG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	protein_coding	OTTHUMT00000387062.1	A	NM_001005194	-		124440850	1	no_errors	ENST00000284287	ensembl	human	known	74_37	missense	SNP	0.993	G	G	124440850	A	G	124440850	3	3	143	1	0	0	0	0	1	0	0	0	11227	159	6	5	888	5	OR8A1	11	124440850	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	11170306	124440850	10565666	47	10664											
ADAMTS8	11095	genome.wustl.edu	37	chr11	130275593	130275593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgcaggtgctagagcActcagaccagtcccccagca	11	17	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr11:130275593A>G	ENST00000257359.6	-	9	3236	c.2530T>C	c.(2530-2532)Tgc>Cgc	p.C844R		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	844	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GTGCTAGAGCACTCAGACCAG	0.622																																																	0								ENSG00000134917						79	93	88					11																	130275593		2073	4226	6299	ADAMTS8	SO:0001583	missense	0			-	HGNC	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2530T>C	11.37:g.130275593A>G	ENSP00000257359:p.Cys844Arg	Somatic	0	41	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	Q9NZS0	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.C844R	ENST00000257359.6	37	c.2530	CCDS41732.1	11	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597709	0.66332	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	D	0.98585	-5.01	5.35	4.23	0.50019	.	0.044050	0.85682	D	0.000000	D	0.99453	0.9806	H	0.99830	4.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97679	1.0171	10	0.87932	D	0	.	10.8699	0.46877	0.926:0.0:0.074:0.0	.	844;325	Q9UP79;B3KVX9	ATS8_HUMAN;.	R	242;844;873	ENSP00000257359:C844R	ENSP00000257359:C844R	C	-	1	0	ADAMTS8	129780803	1.000000	0.71417	0.557000	0.28306	0.790000	0.44656	7.174000	0.77620	0.881000	0.35993	0.482000	0.46254	TGC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.622	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	protein_coding	OTTHUMT00000385636.1	A	NM_007037	-		130275593	-1	no_errors	ENST00000257359	ensembl	human	known	74_37	missense	SNP	1.000	G	G	130275593	A	G	130275593	3	3	143	1	0	0	0	0	1	0	0	0	272	159	6	5	143	5	ADAMTS8	11	130275593	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	5834743	130275593	4730923	48	10665											
TEAD4	7004	genome.wustl.edu	37	chr12	3121377	3121377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctcgtcgcaaagctcgCgagatccaggccaagctaaa	11	13	0	1	rs112112805		TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr12:3121377C>T	ENST00000359864.2	+	5	523	c.333C>T	c.(331-333)cgC>cgT	p.R111R	TEAD4_ENST00000358409.2_Silent_p.R111R|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	111					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAAAGCTCGCGAGATCCAGG	0.597																																																	0								ENSG00000197905	C	,,	1,4405	2.1+/-5.4	0,1,2202	74	62	66		333,333,	-10	0.5	12	dbSNP_132	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,utr-5	TEAD4	NM_003213.3,NM_201441.2,NM_201443.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	111/435,111/392,	3121377	1,13005	2203	4300	6503	TEAD4	SO:0001819	synonymous_variant	0			-	HGNC	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.333C>T	12.37:g.3121377C>T		Somatic	0	33	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Nonsense_Mutation	SNP							pfam_TEA/ATTS,smart_TEA/ATTS	p.R90*	ENST00000359864.2	37	c.268	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151835	0.38021	2.27E-4	0.0	ENSG00000197905	ENST00000544666	.	.	.	4.98	-9.96	0.00443	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.994	2.5578	0.04764	0.1451:0.0981:0.25:0.5068	.	.	.	.	X	23	.	ENSP00000411475:R90X	R	+	1	2	TEAD4	2991638	0.001000	0.12720	0.461000	0.27105	0.083000	0.17756	-1.960000	0.01517	-2.421000	0.00563	-0.150000	0.13652	CGA	-	smart_TEA/ATTS		0.597	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	protein_coding	OTTHUMT00000398475.1	C	NM_003213	rs112112805		3121377	1	no_errors	ENST00000443986	ensembl	human	known	74_37	nonsense	SNP	0.094	T	T	3121377	C	T	3121377	2	4	143	1	0	0	0	0	0	0	0	1	15748	755	27	1		1	TEAD4	12	3121377	Silent	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09		3121377	130730518	49	10666											
KRT6A	3853	genome.wustl.edu	37	chr12	52886478	52886478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggtcttgatctgTtcacgctcctcagcccgcac	10	13	4	2	rs376545	byFrequency	TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr12:52886478T>C	ENST00000330722.6	-	1	563	c.495A>G	c.(493-495)gaA>gaG	p.E165E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	165	Coil 1A.|Rod.				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)		TCTTGATCTGTTCACGCTCCT	0.587													T|||	1808	0.361022	0.3238	0.3458	5008	,	,		19063	0.5397		0.3748	False		,,,				2504	0.2239																0								ENSG00000205420	T		1353,3053	449.6+/-349.1	213,927,1063	178	164	169		495	2.4	1	12	dbSNP_80	169	3145,5453	473.5+/-368.6	610,1925,1764	no	coding-synonymous	KRT6A	NM_005554.3		823,2852,2827	CC,CT,TT		36.5783,30.7081,34.5894		165/565	52886478	4498,8506	2203	4299	6502	KRT6A	SO:0001819	synonymous_variant	0			-	HGNC	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.495A>G	12.37:g.52886478T>C		Somatic	1	238	0.42		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	122	8.96	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E165	ENST00000330722.6	37	c.495	CCDS41786.1	12																																																																																			-	pfam_IF,prints_Keratin_II		0.587	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	protein_coding	OTTHUMT00000404978.2	T	NM_005554	rs376545		52886478	-1	no_errors	ENST00000330722	ensembl	human	known	74_37	silent	SNP	1.000	C	C	52886478	T	C	52886478	2	2	143	1	0	0	0	0	0	0	0	1	8482	1722	60	5		5	KRT6A	12	52886478	Silent	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09	49765101	52886478	80965417	50	10667											
EEA1	8411	genome.wustl.edu	37	chr12	93196420	93196420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcttgtttcaggatTtttttttcttcctcttgctt	4	8	5	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr12:93196420T>G	ENST00000322349.8	-	19	2694	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	810			K -> Q (in dbSNP:rs10745623). {ECO:0000269|PubMed:7768953, ECO:0000269|Ref.2}.		early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTTTCAGGATTTTTTTTTCTT	0.313																																																	0								ENSG00000102189						73	69	70					12																	93196420		2201	4296	6497	EEA1	SO:0001583	missense	0			-	HGNC	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2430A>C	12.37:g.93196420T>G	ENSP00000317955:p.Lys810Asn	Somatic	0	25	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q14221	Missense_Mutation	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.K810N	ENST00000322349.8	37	c.2430	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	T	1.763	-0.486303	0.04352	.	.	ENSG00000102189	ENST00000322349	T	0.77358	-1.09	5.65	-4.89	0.03103	.	1.398190	0.04950	N	0.460191	T	0.48840	0.1522	N	0.03608	-0.345	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.28235	-1.0050	10	0.25106	T	0.35	.	3.1522	0.06492	0.3136:0.0638:0.3714:0.2511	.	810	Q15075	EEA1_HUMAN	N	810	ENSP00000317955:K810N	ENSP00000317955:K810N	K	-	3	2	EEA1	91720551	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.002000	0.12924	-0.620000	0.05641	0.459000	0.35465	AAA	-	NULL		0.313	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	T	NM_003566	-		93196420	-1	no_errors	ENST00000322349	ensembl	human	known	74_37	missense	SNP	0.000	G	G	93196420	T	G	93196420	3	3	143	1	0	0	0	0	1	0	0	0	4923	1838	64	5	1849	5	EEA1	12	93196420	Missense_Mutation	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09	40309942	93196420	40655475	51	10668											
C12orf63	144535	genome.wustl.edu	37	chr12	97045392	97045392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctcatcgtggtggctattgGactctgcttcagaactgctg	12	10	3	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr12:97045392G>T	ENST00000524981.4	+	36	4922	c.4899G>T	c.(4897-4899)tgG>tgT	p.W1633C				Q96N23	CL055_HUMAN		0																	GTGGCTATTGGACTCTGCTTC	0.378																																																	0								ENSG00000188596						141	127	132					12																	97045392		2203	4300	6503	C12orf55	SO:0001583	missense	0			-	HGNC																												ENST00000524981.4:c.4899G>T	12.37:g.97045392G>T	ENSP00000431759:p.Trp1633Cys	Somatic	0	225	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	159	17.62		Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.W1633C	ENST00000524981.4	37	c.4899		12	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355291	0.61293	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000057	T	0.78566	0.4303	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81123	-0.1076	9	0.87932	D	0	-6.0237	18.4959	0.90865	0.0:0.0:1.0:0.0	.	58	Q6ZTY8	CL063_HUMAN	C	1633;58	.	ENSP00000345466:W58C	W	+	3	0	C12orf63	95569523	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.568000	0.73987	2.450000	0.82876	0.655000	0.94253	TGG	-	NULL		0.378	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	G		-		97045392	1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	SNP	1.000	T	T	97045392	G	T	97045392	3	4	143	1	0	0	0	0	1	0	0	0	1708	1183	41	3	180	3	C12orf63	12	97045392	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	3848972	97045392	36806503	52	10669											
DNAH10	196385	genome.wustl.edu	37	chr12	124341717	124341717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgggctggactgccctCgcgtccgctaccctgacttc	10	17	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr12:124341717C>T	ENST00000409039.3	+	36	6224	c.6199C>T	c.(6199-6201)Cgc>Tgc	p.R2067C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2067					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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGACTGCCCTCGCGTCCGCTA	0.532																																																	0								ENSG00000197653						142	145	144					12																	124341717		2072	4205	6277	DNAH10	SO:0001583	missense	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6199C>T	12.37:g.124341717C>T	ENSP00000386770:p.Arg2067Cys	Somatic	0	124	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	130	15.58	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R2067C	ENST00000409039.3	37	c.6199	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899127	0.72754	.	.	ENSG00000197653	ENST00000409039	T	0.24538	1.85	5.75	5.75	0.90469	.	0.000000	0.64402	U	0.000001	T	0.69753	0.3146	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81538	-0.0887	10	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	2067	Q8IVF4	DYH10_HUMAN	C	2067	ENSP00000386770:R2067C	ENSP00000386770:R2067C	R	+	1	0	DNAH10	122907670	1.000000	0.71417	0.465000	0.27155	0.113000	0.19764	5.960000	0.70348	2.725000	0.93324	0.655000	0.94253	CGC	-	superfamily_P-loop_NTPase		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	C		-		124341717	1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124341717	C	T	124341717	3	4	143	1	0	0	0	0	1	0	0	0	4600	884	31	1	6341	1	DNAH10	12	124341717	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	27296325	124341717	9510178	53	10670											
GSX1	219409	genome.wustl.edu	37	chr13	28367891	28367891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagaaccgccgagtgAagcacaagaaggagggcaag	15	8	1	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr13:28367891A>G	ENST00000302945.2	+	2	649	c.601A>G	c.(601-603)Aag>Gag	p.K201E		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	201					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	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 (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CCGCCGAGTGAAGCACAAGAA	0.617																																																	0								ENSG00000169840						69	67	68					13																	28367891		2203	4300	6503	GSX1	SO:0001583	missense	0			-	HGNC	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.601A>G	13.37:g.28367891A>G	ENSP00000304331:p.Lys201Glu	Somatic	0	69	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	13.33	Q9UD62	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.K201E	ENST00000302945.2	37	c.601	CCDS9326.1	13	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626421	0.87560	.	.	ENSG00000169840	ENST00000302945	D	0.97941	-4.62	4.86	4.86	0.63082	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.052791	0.64402	D	0.000001	D	0.99146	0.9705	H	0.99117	4.435	0.80722	D	1	D	0.61697	0.99	P	0.57720	0.826	D	0.98776	1.0730	10	0.87932	D	0	.	14.4395	0.67306	1.0:0.0:0.0:0.0	.	201	Q9H4S2	GSX1_HUMAN	E	201	ENSP00000304331:K201E	ENSP00000304331:K201E	K	+	1	0	GSX1	27265891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.244000	0.95423	1.824000	0.53156	0.459000	0.35465	AAG	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.617	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX1	protein_coding	OTTHUMT00000044309.2	A	NM_145657	-		28367891	1	no_errors	ENST00000302945	ensembl	human	known	74_37	missense	SNP	1.000	G	G	28367891	A	G	28367891	3	3	143	1	0	0	0	0	1	0	0	0	6851	247	9	5	607	5	GSX1	13	28367891	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09		28367891	86801987	54	10671											
FREM2	341640	genome.wustl.edu	37	chr13	39450410	39450410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactactcagggacctataCtgtgaagctggtgccatgca	11	10	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr13:39450410C>A	ENST00000280481.7	+	20	8651	c.8435C>A	c.(8434-8436)aCt>aAt	p.T2812N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2812					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)		GGGACCTATACTGTGAAGCTG	0.463																																																	0								ENSG00000150893						127	114	118					13																	39450410		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.8435C>A	13.37:g.39450410C>A	ENSP00000280481:p.Thr2812Asn	Somatic	0	47	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.T2812N	ENST00000280481.7	37	c.8435	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530961	0.27387	.	.	ENSG00000150893	ENST00000280481	T	0.23348	1.91	5.69	2.96	0.34315	.	0.112016	0.64402	N	0.000012	T	0.31358	0.0794	M	0.87180	2.865	0.48511	D	0.999669	B	0.15141	0.012	B	0.17979	0.02	T	0.14254	-1.0479	10	0.87932	D	0	.	5.3217	0.15885	0.1196:0.635:0.1156:0.1297	.	2812	Q5SZK8	FREM2_HUMAN	N	2812	ENSP00000280481:T2812N	ENSP00000280481:T2812N	T	+	2	0	FREM2	38348410	0.998000	0.40836	0.017000	0.16124	0.269000	0.26545	3.970000	0.56824	0.316000	0.23135	0.563000	0.77884	ACT	-	NULL		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361	-		39450410	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	0.958	A	A	39450410	C	A	39450410	3	1	143	1	0	0	0	0	1	0	0	0	6047	565	20	3	8513	3	FREM2	13	39450410	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	11082519	39450410	75719468	55	10672											
C13orf23	80209	genome.wustl.edu	37	chr13	39587561	39587562	+	Frame_Shift_Del	DEL	CA	CA	-													gggagtaggacttgtgggctCagttttgatcataacaggaa							TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr13:39587561_39587562delCA	ENST00000352251.3	-	11	2660_2661	c.1827_1828delTG	c.(1825-1830)actgagfs	p.E610fs	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Frame_Shift_Del_p.E588fs	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	610	Ser-rich.																CTTGTGGGCTCAGTTTTGATCA	0.525																																																	0								ENSG00000120685																																			PROSER1	SO:0001589	frameshift_variant	0				HGNC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1827_1828delTG	13.37:g.39587561_39587562delCA	ENSP00000332034:p.Glu610fs	Somatic	0	97	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	100	18.70	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Frame_Shift_Del	DEL							NULL	p.E610fs	ENST00000352251.3	37	c.1828_1827	CCDS9368.2	13																																																																																			-	NULL		0.525	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	protein_coding	OTTHUMT00000044607.5	CA	NM_025138			39587562	-1	no_errors	ENST00000352251	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.992	-	-	39587562	CA	-	39587561	7	5	143	1	0	1	0	1	0	0	0	0	1723	835	29	0	1018	0	C13orf23	13	39587561	Frame_Shift_Del	DEL	CA	TCGA-HB-A2OT-01A-11D-A21Q-09	137151	39587561	75582317	56	10673											
COX16	51241	genome.wustl.edu	37	chr14	70795938	70795938	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctctttcagttttttttCaagctcaggatccatctgta	5	9	5	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr14:70795938C>T	ENST00000389912.6	-	3	300	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	COX16_ENST00000557612.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	53						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						AGTTTTTTTTCAAGCTCAGGA	0.294																																																	0								ENSG00000133983						58	62	61					14																	70795938		2198	4285	6483	COX16	SO:0001583	missense	0			-	HGNC	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 112"	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.157G>A	14.37:g.70795938C>T	ENSP00000374562:p.Glu53Lys	Somatic	0	37	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A6NDT5|A8K3X8	Missense_Mutation	SNP							NULL	p.E53K	ENST00000389912.6	37	c.157	CCDS9802.1	14	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228296	0.39399	.	.	ENSG00000133983	ENST00000389912	.	.	.	3.65	3.65	0.41850	.	0.089265	0.42172	U	0.000760	T	0.66992	0.2846	L	0.55990	1.75	0.43448	D	0.995631	D	0.76494	0.999	D	0.74348	0.983	T	0.63265	-0.6676	9	0.30854	T	0.27	.	11.1727	0.48582	0.0:1.0:0.0:0.0	.	53	Q9P0S2	COX16_HUMAN	K	53	.	ENSP00000374562:E53K	E	-	1	0	COX16	69865691	1.000000	0.71417	0.997000	0.53966	0.078000	0.17371	3.475000	0.53136	2.355000	0.79922	0.467000	0.42956	GAA	-	NULL		0.294	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX16	protein_coding	OTTHUMT00000412470.2	C	NM_016468	-		70795938	-1	no_errors	ENST00000389912	ensembl	human	known	74_37	missense	SNP	0.998	T	T	70795938	C	T	70795938	3	4	143	1	0	0	0	0	1	0	0	0	3767	835	29	2	171	2	COX16	14	70795938	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09		70795938	36553602	57	10674											
GABRA5	2558	genome.wustl.edu	37	chr15	27188460	27188460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggactggttcatagccGtgtgctatgccttcgtcttc	10	12	2	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr15:27188460G>A	ENST00000335625.5	+	10	1864	c.976G>A	c.(976-978)Gtg>Atg	p.V326M	GABRA5_ENST00000355395.5_Missense_Mutation_p.V326M|GABRA5_ENST00000400081.3_Missense_Mutation_p.V326M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	326					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)|Zopiclone(DB01198)	GTTCATAGCCGTGTGCTATGC	0.572																																																	0								ENSG00000186297						29	33	32					15																	27188460		2119	4267	6386	GABRA5	SO:0001583	missense	0			-	HGNC		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.976G>A	15.37:g.27188460G>A	ENSP00000335592:p.Val326Met	Somatic	0	46	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V326M	ENST00000335625.5	37	c.976	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	-	24.1	4.488170	0.84854	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.86562	-2.14;-2.14;-2.14	5.27	4.36	0.52297	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91619	0.5309	10	0.87932	D	0	.	13.2941	0.60286	0.0765:0.0:0.9235:0.0	.	326	P31644	GBRA5_HUMAN	M	326	ENSP00000335592:V326M;ENSP00000347557:V326M;ENSP00000382953:V326M	ENSP00000335592:V326M	V	+	1	0	GABRA5	24771206	1.000000	0.71417	0.924000	0.36721	0.994000	0.84299	9.592000	0.98245	1.359000	0.45940	0.651000	0.88453	GTG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel		0.572	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	protein_coding	OTTHUMT00000415234.1	G		-		27188460	1	no_errors	ENST00000335625	ensembl	human	known	74_37	missense	SNP	0.999	A	A	27188460	G	A	27188460	3	1	143	1	0	0	0	0	1	0	0	0	6166	1145	40	1	1006	1	GABRA5	15	27188460	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		27188460	75342932	58	10675											
PARP6	56965	genome.wustl.edu	37	chr15	72534999	72534999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgtatctctggaccaGctcatccttggagggcatcc	10	13	2	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr15:72534999G>T	ENST00000569795.1	-	21	2290	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.L535M|PARP6_ENST00000260376.7_Missense_Mutation_p.S511R			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	535	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTCTGGACCAGCTCATCCTTG	0.463																																																	0								ENSG00000137817						197	191	193					15																	72534999		1935	4130	6065	PARP6	SO:0001583	missense	0			-	HGNC	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.1603C>A	15.37:g.72534999G>T	ENSP00000456348:p.Leu535Met	Somatic	0	77	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L535M	ENST00000569795.1	37	c.1603	CCDS10241.2	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.87|15.87	2.959646|2.959646	0.53400|0.53400	.|.	.|.	ENSG00000137817|ENSG00000137817	ENST00000419739;ENST00000287196|ENST00000260376	.|.	.|.	.|.	5.32|5.32	4.4|4.4	0.53042|0.53042	Poly(ADP-ribose) polymerase, catalytic domain (1);|.	0.000000|.	0.53938|.	U|.	0.000057|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.22421|0.22421	0.69|0.69	0.30870|0.30870	N|N	0.732611|0.732611	P;D;D|.	0.69078|.	0.944;0.997;0.997|.	P;D;D|.	0.81914|.	0.496;0.995;0.992|.	T|T	0.43798|0.43798	-0.9369|-0.9369	9|6	0.38643|0.87932	T|D	0.18|0	-29.1098|-29.1098	9.4097|9.4097	0.38485|0.38485	0.1594:0.0:0.8406:0.0|0.1594:0.0:0.8406:0.0	.|.	536;535;468|.	Q0VDG0;Q2NL67;A0PJ50|.	.;PARP6_HUMAN;.|.	M|R	536;535|511	.|.	ENSP00000287196:L535M|ENSP00000260376:S511R	L|S	-|-	1|3	2|2	PARP6|PARP6	70322053|70322053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.776000|3.776000	0.55356|0.55356	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	CTG|AGC	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.463	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	protein_coding	OTTHUMT00000257315.2	G	NM_020214	-		72534999	-1	no_errors	ENST00000287196	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72534999	G	T	72534999	3	4	143	1	0	0	0	0	1	0	0	0	11466	962	34	3	305	3	PARP6	15	72534999	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	45346539	72534999	29996393	59	10676											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29906619	29906619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccgccccttgggacccGtgggctctggaagtgcagaa	14	14	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr16:29906619G>A	ENST00000308713.5	-	5	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R202W|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R228W|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	272	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGGGACCCGTGGGCTCTGG	0.607																																																	0								ENSG00000174938						78	84	82					16																	29906619		2197	4300	6497	SEZ6L2	SO:0001583	missense	0			-	HGNC	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.814C>T	16.37:g.29906619G>A	ENSP00000312550:p.Arg272Trp	Somatic	0	76	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R272W	ENST00000308713.5	37	c.814	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178392	0.78564	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.56776	0.44;0.44;0.44	5.36	5.36	0.76844	CUB (5);	0.000000	0.44285	D	0.000473	T	0.65729	0.2719	L	0.43152	1.355	0.39289	D	0.964701	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.70227	0.968;0.949;0.915;0.949;0.915	T	0.66280	-0.5963	10	0.44086	T	0.13	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	228;272;202;272;202	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	W	202;272;228	ENSP00000310206:R202W;ENSP00000312550:R272W;ENSP00000439412:R228W	ENSP00000312550:R272W	R	-	1	2	SEZ6L2	29814120	0.840000	0.29493	0.405000	0.26409	0.878000	0.50629	3.623000	0.54224	2.521000	0.84997	0.586000	0.80456	CGG	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.607	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	protein_coding	OTTHUMT00000255154.2	G	NM_012410	-		29906619	-1	no_errors	ENST00000308713	ensembl	human	known	74_37	missense	SNP	0.746	A	A	29906619	G	A	29906619	3	1	143	1	0	0	0	0	1	0	0	0	14152	1144	40	1	2013	1	SEZ6L2	16	29906619	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		29906619	60448134	60	10677											
JPH3	57338	genome.wustl.edu	37	chr16	87678395	87678395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttcggcgtgagccagcGctcggacgggctcaagtacg	16	13	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr16:87678395G>A	ENST00000284262.2	+	2	1156	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	305					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GTGAGCCAGCGCTCGGACGGG	0.662																																																	0								ENSG00000154118						70	74	72					16																	87678395		2198	4300	6498	JPH3	SO:0001583	missense	0			-	HGNC	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.914G>A	16.37:g.87678395G>A	ENSP00000284262:p.Arg305His	Somatic	0	79	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP							pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R305H	ENST00000284262.2	37	c.914	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526601	0.85706	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.54866	0.55	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	N	0.12920	0.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62544	-0.6832	10	0.45353	T	0.12	.	17.1059	0.86663	0.0:0.0:1.0:0.0	.	305	Q8WXH2	JPH3_HUMAN	H	168;305	ENSP00000284262:R305H	ENSP00000284262:R305H	R	+	2	0	JPH3	86235896	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	9.580000	0.98207	2.286000	0.76751	0.561000	0.74099	CGC	-	pirsf_Junctophilin,pfam_MORN,smart_MORN		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	protein_coding	OTTHUMT00000269108.2	G		-		87678395	1	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87678395	G	A	87678395	3	1	143	1	0	0	0	0	1	0	0	0	7964	1087	38	1	920	1	JPH3	16	87678395	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	57771776	87678395	2676358	61	10678											
MYOCD	93649	genome.wustl.edu	37	chr17	12666808	12666808	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgaatctccctgggaAaccatggagtggctggacct	11	11	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr17:12666808A>T	ENST00000343344.4	+	13	2664	c.2664A>T	c.(2662-2664)gaA>gaT	p.E888D	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.E936D			Q8IZQ8	MYCD_HUMAN	myocardin	888					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCCCTGGGAAACCATGGAGT	0.547																																																	0								ENSG00000141052						76	67	70					17																	12666808		2203	4300	6503	MYOCD	SO:0001583	missense	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2664A>T	17.37:g.12666808A>T	ENSP00000341835:p.Glu888Asp	Somatic	0	43	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.E936D	ENST00000343344.4	37	c.2808	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810454	0.50421	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.34859	1.42;1.34	6.08	-1.34	0.09143	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	N	0.16862	0.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.96;0.998;0.996	T	0.04551	-1.0943	10	0.19147	T	0.46	-30.7458	12.4873	0.55881	0.4439:0.0:0.5561:0.0	.	612;936;888	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	D	612;936;888;598	ENSP00000341835:E888D;ENSP00000400148:E598D	ENSP00000341835:E888D	E	+	3	2	MYOCD	12607533	0.998000	0.40836	0.993000	0.49108	0.936000	0.57629	0.689000	0.25437	-0.274000	0.09232	0.533000	0.62120	GAA	-	NULL		0.547	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	A	NM_153604	-		12666808	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	0.998	T	T	12666808	A	T	12666808	3	4	143	1	0	0	0	0	1	0	0	0	10089	11	1	5	2874	5	MYOCD	17	12666808	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09		12666808	68528402	62	10679											
TOP2A	7153	genome.wustl.edu	37	chr17	38551786	38551786	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcttccttcagtattTtcattctaaaagatagcaaa	7	7	3	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr17:38551786T>A	ENST00000423485.1	-	29	3884	c.3726A>T	c.(3724-3726)gaA>gaT	p.E1242D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1242					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTCAGTATTTTCATTCTAAA	0.363																																																	0								ENSG00000131747						121	104	109					17																	38551786		1806	4072	5878	TOP2A	SO:0001583	missense	0			-	HGNC		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3726A>T	17.37:g.38551786T>A	ENSP00000411532:p.Glu1242Asp	Somatic	0	44	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP							pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.E1242D	ENST00000423485.1	37	c.3726	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294514	0.40594	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25250	1.81	5.4	4.3	0.51218	.	0.165886	0.56097	D	0.000036	T	0.18718	0.0449	L	0.44542	1.39	0.35129	D	0.767804	P	0.40794	0.729	B	0.36766	0.232	T	0.23797	-1.0178	10	0.34782	T	0.22	.	7.1154	0.25414	0.0:0.1726:0.0:0.8274	.	1242	P11388	TOP2A_HUMAN	D	1242;1322;1265;1278	ENSP00000411532:E1242D	ENSP00000269577:E1322D	E	-	3	2	TOP2A	35805312	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.365000	0.34182	1.033000	0.39918	0.529000	0.55759	GAA	-	NULL		0.363	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	protein_coding	OTTHUMT00000338035.1	T		-		38551786	-1	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38551786	T	A	38551786	3	1	143	1	0	0	0	0	1	0	0	0	16372	1838	64	5	897	5	TOP2A	17	38551786	Missense_Mutation	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09	25884978	38551786	42643424	63	10680											
DLX4	1748	genome.wustl.edu	37	chr17	48050587	48050587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagtacctggcgctgcCcgagagggcccagctggcag	15	15	0	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr17:48050587C>A	ENST00000240306.3	+	2	729	c.434C>A	c.(433-435)cCc>cAc	p.P145H	DLX4_ENST00000411890.2_Missense_Mutation_p.P73H	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	145					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTGGCGCTGCCCGAGAGGGCC	0.652																																																	0								ENSG00000108813						30	31	31					17																	48050587		2203	4299	6502	DLX4	SO:0001583	missense	0			-	HGNC		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.434C>A	17.37:g.48050587C>A	ENSP00000240306:p.Pro145His	Somatic	0	32	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P145H	ENST00000240306.3	37	c.434	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.095900	0.94197	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.96104	-3.91;-3.91	4.88	4.88	0.63580	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.96568	0.8880	L	0.48362	1.52	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96893	0.9654	9	0.87932	D	0	-27.6266	15.9048	0.79419	0.0:1.0:0.0:0.0	.	73;145	Q92988-2;Q92988	.;DLX4_HUMAN	H	145;73	ENSP00000240306:P145H;ENSP00000410622:P73H	ENSP00000240306:P145H	P	+	2	0	DLX4	45405586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.689000	0.68234	2.679000	0.91253	0.655000	0.94253	CCC	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom		0.652	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	protein_coding	OTTHUMT00000366214.1	C		-		48050587	1	no_errors	ENST00000240306	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48050587	C	A	48050587	3	1	143	1	0	0	0	0	1	0	0	0	4575	623	22	3	507	3	DLX4	17	48050587	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	9498801	48050587	33144623	64	10681											
LRRC30	339291	genome.wustl.edu	37	chr18	7231229	7231229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagttttctccgtgggaCgatgccctgctctcgggaag	13	11	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr18:7231229C>T	ENST00000383467.2	+	1	107	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	31										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCCGTGGGACGATGCCCTGC	0.617																																																	0								ENSG00000206422						68	74	72					18																	7231229		1985	4155	6140	LRRC30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.93C>T	18.37:g.7231229C>T		Somatic	0	33	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D31	ENST00000383467.2	37	c.93	CCDS42409.1	18																																																																																			-	NULL		0.617	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	C	XM_292678	-		7231229	1	no_errors	ENST00000383467	ensembl	human	known	74_37	silent	SNP	0.033	T	T	7231229	C	T	7231229	2	4	143	1	0	0	0	0	0	0	0	1	8987	535	19	1		1	LRRC30	18	7231229	Silent	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09		7231229	70846019	65	10682											
MUC16	94025	genome.wustl.edu	37	chr19	9070223	9070223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgtggctttggatgtGtgtgaatcagctgggacaga	17	4	1	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr19:9070223G>T	ENST00000397910.4	-	3	17426	c.17223C>A	c.(17221-17223)caC>caA	p.H5741Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5743	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						CTTTGGATGTGTGTGAATCAG	0.478																																																	0								ENSG00000181143						149	144	146					19																	9070223		2077	4210	6287	MUC16	SO:0001583	missense	0			-	HGNC	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.17223C>A	19.37:g.9070223G>T	ENSP00000381008:p.His5741Gln	Somatic	0	183	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	122	15.28	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.H5741Q	ENST00000397910.4	37	c.17223	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.770	-0.766094	0.02974	.	.	ENSG00000181143	ENST00000397910	T	0.20069	2.1	1.72	-3.45	0.04781	.	.	.	.	.	T	0.06554	0.0168	N	0.02011	-0.69	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.30297	-0.9983	8	0.87932	D	0	.	3.7408	0.08528	0.0:0.2951:0.4049:0.3	.	5741	B5ME49	.	Q	5741	ENSP00000381008:H5741Q	ENSP00000381008:H5741Q	H	-	3	2	MUC16	8931223	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.593000	0.05740	-0.936000	0.03723	-2.291000	0.00267	CAC	-	NULL		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9070223	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9070223	G	T	9070223	3	4	143	1	0	0	0	0	1	0	0	0	9975	1368	48	3	26628	3	MUC16	19	9070223	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		9070223	50058760	66	10683											
CYP4F11	57834	genome.wustl.edu	37	chr19	16034891	16034891	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatatattcactgggctTcctgcatgaaggaggtaaca	11	8	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr19:16034891T>C	ENST00000402119.4	-	6	1075	c.649A>G	c.(649-651)Aag>Gag	p.K217E	CYP4F11_ENST00000248041.8_Splice_Site_p.K217E|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Splice_Site_p.K217E	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCACTGGGCTTCCTGCATGAA	0.468																																																	0								ENSG00000171903						79	78	78					19																	16034891		2203	4300	6503	CYP4F11	SO:0001630	splice_region_variant	0			-	HGNC	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.648-1A>G	19.37:g.16034891T>C		Somatic	0	63	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31		Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.K217E	ENST00000402119.4	37	c.649	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	t	14.78	2.636550	0.47049	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.78126	-1.15;-1.15;-0.17	2.52	1.4	0.22301	.	0.196102	0.30920	U	0.008606	T	0.69260	0.3091	N	0.16307	0.4	0.40355	D	0.979176	B;P	0.39250	0.088;0.665	B;P	0.51516	0.086;0.672	T	0.64041	-0.6500	10	0.42905	T	0.14	.	6.6353	0.22879	0.0:0.0:0.2443:0.7557	.	217;217	F8W978;Q9HBI6	.;CP4FB_HUMAN	E	217	ENSP00000384588:K217E;ENSP00000248041:K217E;ENSP00000319859:K217E	ENSP00000248041:K217E	K	-	1	0	CYP4F11	15895891	0.119000	0.22226	0.648000	0.29521	0.186000	0.23388	0.331000	0.19733	0.165000	0.19558	0.254000	0.18369	AAG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.468	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	protein_coding	OTTHUMT00000460385.2	T	NM_021187	-	Missense_Mutation	16034891	-1	no_errors	ENST00000248041	ensembl	human	known	74_37	missense	SNP	0.999	C	C	16034891	T	C	16034891	5	2	143	1	0	0	0	0	0	0	1	0	4188	1797	62	5	953	5	CYP4F11	19	16034891	Splice_Site	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09	6964668	16034891	43094092	67	10684											
CPAMD8	27151	genome.wustl.edu	37	chr19	17088328	17088328	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacacacgtcgacctcAgcttctggggctggtggggg	15	12	3	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr19:17088328A>T	ENST00000443236.1	-	15	1780	c.1749T>A	c.(1747-1749)gcT>gcA	p.A583A	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	536						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTCGACCTCAGCTTCTGGGG	0.592																																																	0								ENSG00000160111						27	32	31					19																	17088328		1968	4149	6117	CPAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1749T>A	19.37:g.17088328A>T		Somatic	0	40	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	Q8NC09|Q9ULD7	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.A583	ENST00000443236.1	37	c.1749	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	a	9.466	1.094314	0.20471	.	.	ENSG00000160111	ENST00000443236	T	0.70631	-0.5	2.62	-5.24	0.02789	.	.	.	.	.	T	0.55561	0.1928	.	.	.	0.33786	D	0.62482	.	.	.	.	.	.	T	0.55373	-0.8151	5	.	.	.	.	4.465	0.11685	0.3154:0.0:0.2819:0.4027	.	.	.	.	Q	594	ENSP00000402505:L594Q	.	L	-	2	0	CPAMD8	16949328	0.001000	0.12720	0.067000	0.19924	0.330000	0.28571	-1.679000	0.01940	-0.676000	0.05238	-0.635000	0.03985	CTG	-	pfam_A2M_N_2		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	A	NM_015692	-		17088328	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	SNP	0.155	T	T	17088328	A	T	17088328	2	4	143	1	0	0	0	0	0	0	0	1	3797	175	7	5		5	CPAMD8	19	17088328	Silent	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	1053437	17088328	42040655	68	10685											
SIGLEC6	946	genome.wustl.edu	37	chr19	52034155	52034155	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagagcaggtcagattGctgggatggccagactccag	15	10	1	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr19:52034155G>C	ENST00000425629.3	-	3	640	c.486C>G	c.(484-486)agC>agG	p.S162R	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S126R|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.S162R|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S162R|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S162R|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S151R|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	162	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGTCAGATTGCTGGGATGGC	0.652																																																	0								ENSG00000105492						85	90	88					19																	52034155		2203	4300	6503	SIGLEC6	SO:0001583	missense	0			-	HGNC	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.486C>G	19.37:g.52034155G>C	ENSP00000401502:p.Ser162Arg	Somatic	0	46	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP							pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S162R	ENST00000425629.3	37	c.486	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.937050	0.00484	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.03330	3.97;4.02;4.02;4.02;4.02	3.34	-3.31	0.04988	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.754660	0.03201	N	0.174719	T	0.02807	0.0084	N	0.10837	0.055	0.09310	N	1	B;B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.0;0.002;0.0	B;B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.001;0.002;0.003;0.002	T	0.44862	-0.9300	10	0.19147	T	0.46	.	14.2467	0.65993	0.0:0.2764:0.7236:0.0	.	162;126;151;151;162;162;162	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	R	151;162;162;162;126;162;151	ENSP00000344064:S151R;ENSP00000401502:S162R;ENSP00000353071:S162R;ENSP00000410679:S126R;ENSP00000345907:S162R	ENSP00000345907:S162R	S	-	3	2	SIGLEC6	56725967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.336000	0.07863	-0.521000	0.06426	-2.229000	0.00292	AGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.652	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	protein_coding	OTTHUMT00000257670.3	G	NM_001245	-		52034155	-1	no_errors	ENST00000425629	ensembl	human	known	74_37	missense	SNP	0.000	C	C	52034155	G	C	52034155	3	2	143	1	0	0	0	0	1	0	0	0	14320	1310	46	4	932	4	SIGLEC6	19	52034155	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	34945827	52034155	7094828	69	10686											
LILRB5	10990	genome.wustl.edu	37	chr19	54758275	54758275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggctgggatccccagagGgtcctgggaataagcacaga	15	9	0	3			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr19:54758275G>T	ENST00000316219.5	-	7	1366	c.1259C>A	c.(1258-1260)cCc>cAc	p.P420H	LILRB5_ENST00000449561.2_Missense_Mutation_p.P420H|LILRB5_ENST00000450632.1_Missense_Mutation_p.P411H|LILRB5_ENST00000345866.6_Missense_Mutation_p.P320H	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	420					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCCCCAGAGGGTCCTGGGAA	0.627																																																	0								ENSG00000105609						29	32	31					19																	54758275		2196	4298	6494	LILRB5	SO:0001583	missense	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1259C>A	19.37:g.54758275G>T	ENSP00000320390:p.Pro420His	Somatic	0	46	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	Q8N760	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P411H	ENST00000316219.5	37	c.1232	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	G	5.117	0.207188	0.09704	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00486	7.1;7.06;7.09;7.08	2.08	-0.152	0.13407	.	4.984720	0.00628	N	0.000469	T	0.00524	0.0017	L	0.53249	1.67	0.09310	N	1	B;B;P;B	0.35807	0.009;0.196;0.522;0.027	B;B;B;B	0.39152	0.01;0.112;0.292;0.022	T	0.45556	-0.9253	10	0.33141	T	0.24	.	4.3338	0.11076	0.3667:0.0:0.6333:0.0	.	411;320;420;420	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	H	420;411;420;320	ENSP00000320390:P420H;ENSP00000414225:P411H;ENSP00000406478:P420H;ENSP00000263430:P320H	ENSP00000320390:P420H	P	-	2	0	LILRB5	59450087	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.012000	0.13287	0.038000	0.15604	0.471000	0.43371	CCC	-	NULL		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	G		-		54758275	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	SNP	0.000	T	T	54758275	G	T	54758275	3	4	143	1	0	0	0	0	1	0	0	0	8796	1232	43	3	544	3	LILRB5	19	54758275	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	2724120	54758275	4370708	70	10687											
FERMT1	55612	genome.wustl.edu	37	chr20	6096550	6096550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaattcggcagacgaaggCgcagcattttatgctgaggg	13	8	1	2	rs137862671	byFrequency	TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr20:6096550C>T	ENST00000217289.4	-	3	1081	c.293G>A	c.(292-294)cGc>cAc	p.R98H	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	98	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAGACGAAGGCGCAGCATTTT	0.483													C|||	3	0.000599042	0	0	5008	,	,		19742	0.001		0.001	False		,,,				2504	0.001																0								ENSG00000101311	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	88	88		293	5.5	1	20	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FERMT1	NM_017671.4	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	98/678	6096550	3,13003	2203	4300	6503	FERMT1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.293G>A	20.37:g.6096550C>T	ENSP00000217289:p.Arg98His	Somatic	0	39	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R98H	ENST00000217289.4	37	c.293	CCDS13098.1	20	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.7	4.939444	0.92526	2.27E-4	2.33E-4	ENSG00000101311	ENST00000217289;ENST00000339538;ENST00000378844	T;T	0.11277	2.79;2.79	5.52	5.52	0.82312	Band 4.1 domain (1);	0.104565	0.64402	D	0.000003	T	0.38348	0.1037	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64321	0.924;0.88	T	0.24728	-1.0152	10	0.66056	D	0.02	-11.0514	19.8176	0.96576	0.0:1.0:0.0:0.0	.	98;98	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	H	98	ENSP00000217289:R98H;ENSP00000368121:R98H	ENSP00000217289:R98H	R	-	2	0	FERMT1	6044550	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	3.972000	0.56838	2.765000	0.95021	0.650000	0.86243	CGC	-	smart_Band_41_domain		0.483	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	protein_coding	OTTHUMT00000077908.2	C	NM_017671	rs137862671		6096550	-1	no_errors	ENST00000217289	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6096550	C	T	6096550	3	4	143	1	0	0	0	0	1	0	0	0	5819	768	27	1	1792	1	FERMT1	20	6096550	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09		6096550	56928970	71	10688											
PTPRT	11122	genome.wustl.edu	37	chr20	40735528	40735528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcaagcatggtgtcaatGgcaatgaagcagccagtccg	12	9	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr20:40735528G>A	ENST00000373187.1	-	24	3287	c.3288C>T	c.(3286-3288)gcC>gcT	p.A1096A	PTPRT_ENST00000356100.2_Silent_p.A1105A|PTPRT_ENST00000373201.1_Silent_p.A1086A|PTPRT_ENST00000373184.1_Silent_p.A1106A|PTPRT_ENST00000373190.1_Silent_p.A1095A|PTPRT_ENST00000373198.4_Silent_p.A1115A|PTPRT_ENST00000373193.3_Silent_p.A1099A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1096	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		A -> P (in a colorectal cancer). {ECO:0000269|PubMed:15155950}.		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)				TGGTGTCAATGGCAATGAAGC	0.587																																																	0								ENSG00000196090						67	78	75					20																	40735528		2089	4241	6330	PTPRT	SO:0001819	synonymous_variant	0			-	HGNC	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.3288C>T	20.37:g.40735528G>A		Somatic	0	67	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A1115	ENST00000373187.1	37	c.3345	CCDS42874.1	20																																																																																			-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.587	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	G		-		40735528	-1	no_errors	ENST00000373198	ensembl	human	known	74_37	silent	SNP	0.998	A	A	40735528	G	A	40735528	2	1	143	1	0	0	0	0	0	0	0	1	12820	1335	47	2		2	PTPRT	20	40735528	Silent	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	34638978	40735528	22289992	72	10689											
CECR2	27443	genome.wustl.edu	37	chr22	18020346	18020346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcgttgccccccacaCgccgagcgccctcttctggg	11	17	2	0			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr22:18020346C>T	ENST00000400585.2	+	14	1690	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	CECR2_ENST00000400573.5_Missense_Mutation_p.R559C|CECR2_ENST00000262608.8_Missense_Mutation_p.R560C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	601					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)		GCCCCCCACACGCCGAGCGCC	0.627																																																	0								ENSG00000099954						47	59	55					22																	18020346		1983	4139	6122	CECR2	SO:0001583	missense	0			-	HGNC	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.1252C>T	22.37:g.18020346C>T	ENSP00000383428:p.Arg418Cys	Somatic	0	38	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R559C	ENST00000400585.2	37	c.1675		22	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855819	0.51376	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27104	1.81;1.81;1.69	5.95	5.95	0.96441	.	0.387908	0.22346	N	0.061261	T	0.33527	0.0866	L	0.59436	1.845	0.21782	N	0.999549	D;D;D	0.71674	0.995;0.998;0.998	B;P;P	0.47528	0.446;0.549;0.549	T	0.33343	-0.9872	10	0.56958	D	0.05	-15.8191	13.9729	0.64252	0.0:0.9224:0.0:0.0776	.	601;418;559	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	C	418;559;560	ENSP00000383428:R418C;ENSP00000383417:R559C;ENSP00000262608:R560C	ENSP00000262608:R560C	R	+	1	0	CECR2	16400346	0.685000	0.27652	0.393000	0.26258	0.095000	0.18619	3.163000	0.50763	2.826000	0.97356	0.491000	0.48974	CGC	-	NULL		0.627	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	C	NM_031413	-		18020346	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	0.152	T	T	18020346	C	T	18020346	3	4	143	1	0	0	0	0	1	0	0	0	3208	536	19	1	1727	1	CECR2	22	18020346	Missense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09		18020346	33284220	73	10690											
MPPED1	758	genome.wustl.edu	37	chr22	43831030	43831030	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctctgatacccactcgAggacggaccccatccagatg	10	15	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chr22:43831030A>C	ENST00000417669.2	+	3	745	c.301A>C	c.(301-303)Agg>Cgg	p.R101R	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.R134R|MPPED1_ENST00000542779.1_Silent_p.R101R|MPPED1_ENST00000443721.1_Silent_p.R101R|MPPED1_ENST00000414469.2_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	101							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TACCCACTCGAGGACGGACCC	0.632																																																	0								ENSG00000186732						107	123	118					22																	43831030		2132	4225	6357	MPPED1	SO:0001819	synonymous_variant	0			-	HGNC	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.301A>C	22.37:g.43831030A>C		Somatic	0	83	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	31	62.20	A8K159|B7Z2S9|Q8N361	Silent	SNP							pfam_PEstase_dom	p.R134	ENST00000417669.2	37	c.400	CCDS46723.1	22																																																																																			-	NULL		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	protein_coding	OTTHUMT00000318938.2	A	NM_001044370	-		43831030	1	no_errors	ENST00000538182	ensembl	human	known	74_37	silent	SNP	0.921	C	C	43831030	A	C	43831030	2	2	143	1	0	0	0	0	0	0	0	1	9743	295	11	5		5	MPPED1	22	43831030	Silent	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	25810684	43831030	7473536	74	10691											
FANCB	2187	genome.wustl.edu	37	chrX	14882869	14882869	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgagtaagggcaatgagaGatattcttaactggtttttg	11	4	1	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chrX:14882869G>A	ENST00000324138.3	-	2	917	c.764C>T	c.(763-765)tCt>tTt	p.S255F	FANCB_ENST00000398334.1_Missense_Mutation_p.S255F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	255					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GGCAATGAGAGATATTCTTAA	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0								ENSG00000181544						89	84	86					X																	14882869		2203	4300	6503	FANCB	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.764C>T	X.37:g.14882869G>A	ENSP00000326819:p.Ser255Phe	Somatic	0	40	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.56	B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP							NULL	p.S255F	ENST00000324138.3	37	c.764	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362711	0.61403	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03607	3.87;3.87;3.87	5.43	5.43	0.79202	.	0.309649	0.36101	N	0.002794	T	0.16342	0.0393	M	0.71581	2.175	0.43368	D	0.99545	D	0.89917	1.0	D	0.91635	0.999	T	0.00045	-1.2218	10	0.72032	D	0.01	-19.2712	12.8276	0.57728	0.0803:0.0:0.9197:0.0	.	255	Q8NB91	FANCB_HUMAN	F	255	ENSP00000326819:S255F;ENSP00000381378:S255F;ENSP00000397849:S255F	ENSP00000326819:S255F	S	-	2	0	FANCB	14792790	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.891000	0.56227	2.408000	0.81797	0.513000	0.50165	TCT	-	NULL		0.373	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	protein_coding	OTTHUMT00000055835.1	G	NM_152633	-		14882869	-1	no_errors	ENST00000324138	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14882869	G	A	14882869	3	1	143	1	0	0	0	0	1	0	0	0	5665	942	33	2	1847	2	FANCB	23	14882869	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09		14882869	140387691	75	10692											
BEND2	139105	genome.wustl.edu	37	chrX	18189140	18189140	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcggagagcactaatcttAttggggtcaagggcacacag	12	10	2	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chrX:18189140A>T	ENST00000380033.4	-	13	2298	c.2166T>A	c.(2164-2166)aaT>aaA	p.N722K	BEND2_ENST00000380030.3_Missense_Mutation_p.N631K	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	722	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CACTAATCTTATTGGGGTCAA	0.413																																																	0								ENSG00000177324						188	168	175					X																	18189140		2203	4300	6503	BEND2	SO:0001583	missense	0			-	HGNC	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2166T>A	X.37:g.18189140A>T	ENSP00000369372:p.Asn722Lys	Somatic	0	63	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP							pfam_BEN_domain	p.N722K	ENST00000380033.4	37	c.2166	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977693	0.53720	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.42513	0.97;0.97	5.49	0.0305	0.14167	BEN domain (2);	0.071372	0.52532	D	0.000070	T	0.58235	0.2108	M	0.76574	2.34	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.51576	-0.8688	10	0.87932	D	0	-24.7411	9.5493	0.39299	0.4202:0.0:0.5798:0.0	.	631;722	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	K	722;631	ENSP00000369372:N722K;ENSP00000369369:N631K	ENSP00000369369:N631K	N	-	3	2	BEND2	18099061	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-0.721000	0.04963	-0.039000	0.13602	-0.375000	0.07067	AAT	-	pfam_BEN_domain		0.413	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	protein_coding	OTTHUMT00000055940.1	A	NM_153346	-		18189140	-1	no_errors	ENST00000380033	ensembl	human	known	74_37	missense	SNP	0.030	T	T	18189140	A	T	18189140	3	4	143	1	0	0	0	0	1	0	0	0	1398	446	16	5	267	5	BEND2	23	18189140	Missense_Mutation	SNP	A	TCGA-HB-A2OT-01A-11D-A21Q-09	3306271	18189140	137081420	76	10693											
ATRX	546	genome.wustl.edu	37	chrX	76939959	76939959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgacaaatgtagcaataCcattggttgttttcatccat	9	7	1	1			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chrX:76939959C>T	ENST00000373344.5	-	9	1003	c.789G>A	c.(787-789)tgG>tgA	p.W263*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W263*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTAGCAATACCATTGGTTGT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Nonsense(1)|Unknown(1)	central_nervous_system(1)|bone(1)						ENSG00000085224						160	148	152					X																	76939959		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.789G>A	X.37:g.76939959C>T	ENSP00000362441:p.Trp263*	Somatic	0	119	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	38	40.62	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W263*	ENST00000373344.5	37	c.789	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.856805	0.97889	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0559	18.4456	0.90682	0.0:1.0:0.0:0.0	.	.	.	.	X	263;225;219	.	ENSP00000362441:W263X	W	-	3	0	ATRX	76826615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.298000	0.77334	0.513000	0.50165	TGG	-	superfamily_Znf_FYVE_PHD		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76939959	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	76939959	C	T	76939959	4	4	143	1	0	0	0	0	0	1	0	0	1208	508	18	2	6797	2	ATRX	23	76939959	Nonsense_Mutation	SNP	C	TCGA-HB-A2OT-01A-11D-A21Q-09	58750819	76939959	78330601	77	10694											
SPANXC	64663	genome.wustl.edu	37	chrX	140335820	140335820	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgaggactcagatgttttcaTttttttaggagcaggttgcg	12	6	2	1	rs57835830	byFrequency	TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chrX:140335820T>A	ENST00000358993.2	-	2	162	c.124A>T	c.(124-126)Atg>Ttg	p.M42L		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M42L(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GATGTTTTCATTTTTTTAGGA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000198573																																			SPANXC	SO:0001583	missense	0			-	HGNC	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.124A>T	X.37:g.140335820T>A	ENSP00000351884:p.Met42Leu	Somatic	1	294	0.34		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	197	19.59	Q32WL9|Q5JX88	Missense_Mutation	SNP							pfam_SPANX_prot	p.M42L	ENST00000358993.2	37	c.124	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.452949	0.00175	.	.	ENSG00000198573	ENST00000358993	T	0.05717	3.4	.	.	.	.	.	.	.	.	T	0.02418	0.0074	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48468	-0.9033	7	0.19147	T	0.46	.	.	.	.	.	42	Q9NY87	SPNXC_HUMAN	L	42	ENSP00000351884:M42L	ENSP00000351884:M42L	M	-	1	0	SPANXC	140163486	0.012000	0.17670	0.003000	0.11579	0.004000	0.04260	0.065000	0.14466	0.424000	0.26061	0.270000	0.19313	ATG	-	pfam_SPANX_prot		0.498	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	protein_coding	OTTHUMT00000058590.1	T	NM_022661	-		140335820	-1	no_errors	ENST00000358993	ensembl	human	known	74_37	missense	SNP	0.004	A	A	140335820	T	A	140335820	3	1	143	1	0	0	0	0	1	0	0	0	14995	1493	52	5	173	5	SPANXC	23	140335820	Missense_Mutation	SNP	T	TCGA-HB-A2OT-01A-11D-A21Q-09	63395861	140335820	14934740	78	10695											
GAB3	139716	genome.wustl.edu	37	chrX	153940609	153940609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtactccactcctcttggcGccgttcagacagatggcttg	10	13	2	2			TCGA-HB-A2OT-01A-11D-A21Q-09	TCGA-HB-A2OT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b94fd39-a2ed-4f84-a977-ee5190378c1f	fda78838-677d-481c-9ac5-e17e40a974aa	g.chrX:153940609G>T	ENST00000369575.3	-	4	992	c.961C>A	c.(961-963)Cgc>Agc	p.R321S	GAB3_ENST00000424127.2_Missense_Mutation_p.R322S|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	321					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCTCTTGGCGCCGTTCAGAC	0.498																																																	0								ENSG00000160219						118	107	111					X																	153940609		2203	4300	6503	GAB3	SO:0001583	missense	0			-	HGNC	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.961C>A	X.37:g.153940609G>T	ENSP00000358588:p.Arg321Ser	Somatic	0	29	0		0.5980521071326				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NHF8|E9PB44	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R322S	ENST00000369575.3	37	c.964	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209912	0.06140	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.19669	2.13;2.13;2.13	5.63	2.93	0.34026	.	0.623389	0.17250	N	0.181212	T	0.15522	0.0374	M	0.73598	2.24	0.22541	N	0.99901	P;B;B	0.37276	0.589;0.36;0.36	B;B;B	0.28465	0.09;0.04;0.04	T	0.27434	-1.0074	10	0.07482	T	0.82	-4.0604	4.3297	0.11057	0.2621:0.0:0.5809:0.157	.	322;322;321	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	S	321;322;322	ENSP00000358588:R321S;ENSP00000358581:R322S;ENSP00000399588:R322S	ENSP00000358581:R322S	R	-	1	0	GAB3	153593803	0.047000	0.20315	0.032000	0.17829	0.701000	0.40568	0.745000	0.26259	0.183000	0.20059	-0.322000	0.08575	CGC	-	NULL		0.498	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	protein_coding	OTTHUMT00000061192.2	G	NM_001081573	-		153940609	-1	no_errors	ENST00000424127	ensembl	human	known	74_37	missense	SNP	0.325	T	T	153940609	G	T	153940609	3	4	143	1	0	0	0	0	1	0	0	0	6152	1087	38	3	827	3	GAB3	23	153940609	Missense_Mutation	SNP	G	TCGA-HB-A2OT-01A-11D-A21Q-09	13604789	153940609	1329951	79	10696											
PADI1	29943	genome.wustl.edu	37	chr1	17567209	17567209	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcgtggacattccccagcTcttcttcctgaaaaacttct	5	14	3	1	rs541735647		TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:17567209T>A	ENST00000375471.4	+	15	1804	c.1712T>A	c.(1711-1713)cTc>cAc	p.L571H	PADI1_ENST00000537499.1_Missense_Mutation_p.L128H|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Missense_Mutation_p.L42H|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	571					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATTCCCCAGCTCTTCTTCCTG	0.577																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0								ENSG00000142623						121	116	118					1																	17567209		2203	4300	6503	PADI1	SO:0001583	missense	0			-	HGNC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1712T>A	1.37:g.17567209T>A	ENSP00000364620:p.Leu571His	Somatic	0	56	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	55	29.49	A1L4K6|Q70SX6	Missense_Mutation	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L571H	ENST00000375471.4	37	c.1712	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515899	0.44763	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000536552	T;T;T	0.38887	1.11;1.11;1.11	3.74	3.74	0.42951	Protein-arginine deiminase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.68924	0.3054	M	0.91717	3.235	0.44694	D	0.997683	D	0.89917	1.0	D	0.97110	1.0	T	0.76027	-0.3109	10	0.87932	D	0	-32.3189	11.427	0.50015	0.0:0.0:0.0:1.0	.	571	Q9ULC6	PADI1_HUMAN	H	571;128;42	ENSP00000364620:L571H;ENSP00000444032:L128H;ENSP00000444833:L42H	ENSP00000364620:L571H	L	+	2	0	PADI1	17439796	1.000000	0.71417	0.990000	0.47175	0.020000	0.10135	7.405000	0.80007	1.582000	0.49881	0.454000	0.30748	CTC	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.577	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	protein_coding	OTTHUMT00000006621.1	T	NM_013358	-		17567209	1	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17567209	T	A	17567209	3	1	144	1	0	0	0	0	1	0	0	0	11379	1551	54	5	1770	5	PADI1	1	17567209	Missense_Mutation	SNP	T	TCGA-HB-A3L4-01A-11D-A21Q-09		17567209	231683412	1	10697											
GLIS1	148979	genome.wustl.edu	37	chr1	53986357	53986357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccttgccgtcgctggcaGccagctgtgtggacgtgtgg	15	13	0	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:53986357G>T	ENST00000312233.2	-	6	1717	c.1151C>A	c.(1150-1152)gCt>gAt	p.A384D		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GTCGCTGGCAGCCAGCTGTGT	0.697																																																	0								ENSG00000174332						25	26	26					1																	53986357		2201	4299	6500	GLIS1	SO:0001583	missense	0			-	HGNC	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1151C>A	1.37:g.53986357G>T	ENSP00000309653:p.Ala384Asp	Somatic	0	45	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A384D	ENST00000312233.2	37	c.1151	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115271	0.20795	.	.	ENSG00000174332	ENST00000312233	T	0.10860	2.83	4.89	2.91	0.33838	.	1.106110	0.06911	N	0.807675	T	0.08088	0.0202	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.20577	0.03	T	0.39292	-0.9621	10	0.11794	T	0.64	.	9.1573	0.37000	0.0841:0.1489:0.767:0.0	.	384	Q8NBF1	GLIS1_HUMAN	D	384	ENSP00000309653:A384D	ENSP00000309653:A384D	A	-	2	0	GLIS1	53758945	0.766000	0.28496	0.347000	0.25668	0.877000	0.50540	2.436000	0.44819	1.144000	0.42321	0.561000	0.74099	GCT	-	NULL		0.697	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	protein_coding	OTTHUMT00000022109.1	G	NM_147193	-		53986357	-1	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	SNP	0.019	T	T	53986357	G	T	53986357	3	4	144	1	0	0	0	0	1	0	0	0	6447	971	34	3	731	3	GLIS1	1	53986357	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	36419148	53986357	195264264	2	10698											
LRIG2	9860	genome.wustl.edu	37	chr1	113616182	113616182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccctgctcctgccgcattCctctcctggactgcagtcgc	9	19	1	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:113616182C>T	ENST00000361127.5	+	1	352	c.154C>T	c.(154-156)Cct>Tct	p.P52S	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	52	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGCCGCATTCCTCTCCTGGA	0.657											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000198799						75	87	83					1																	113616182		2203	4299	6502	LRIG2	SO:0001583	missense	0			-	HGNC	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.154C>T	1.37:g.113616182C>T	ENSP00000355396:p.Pro52Ser	Somatic	0	38	0	1451	0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	Q9NSN2	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P52S	ENST00000361127.5	37	c.154	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139214	0.09083	.	.	ENSG00000198799	ENST00000361127	T	0.60171	0.21	4.93	4.0	0.46444	.	0.408218	0.24769	N	0.035751	T	0.23806	0.0576	L	0.36672	1.1	0.19775	N	0.99995	B	0.16802	0.019	B	0.20384	0.029	T	0.13953	-1.0490	10	0.14252	T	0.57	.	11.0858	0.48086	0.0:0.8132:0.1868:0.0	.	52	O94898	LRIG2_HUMAN	S	52	ENSP00000355396:P52S	ENSP00000355396:P52S	P	+	1	0	LRIG2	113417705	0.001000	0.12720	0.326000	0.25389	0.609000	0.37215	0.070000	0.14573	1.276000	0.44395	0.563000	0.77884	CCT	-	NULL		0.657	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	protein_coding	OTTHUMT00000033549.2	C	NM_014813	-		113616182	1	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	SNP	0.251	T	T	113616182	C	T	113616182	3	4	144	1	0	0	0	0	1	0	0	0	8947	855	30	2	156	2	LRIG2	1	113616182	Missense_Mutation	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09	59629825	113616182	135634439	3	10699											
PTGFRN	5738	genome.wustl.edu	37	chr1	117509804	117509804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagtgcaggaggatgaGttccgctatcgaatgtacca	12	7	0	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:117509804G>A	ENST00000393203.2	+	6	2058	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	637	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AGGAGGATGAGTTCCGCTATC	0.537																																																	0								ENSG00000134247						149	145	146					1																	117509804		2203	4300	6503	PTGFRN	SO:0001819	synonymous_variant	0			-	HGNC	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1911G>A	1.37:g.117509804G>A		Somatic	0	13	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	Q5VVU9|Q8N2K6	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E637	ENST00000393203.2	37	c.1911	CCDS890.1	1																																																																																			-	smart_Ig_sub		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	protein_coding	OTTHUMT00000033271.1	G	NM_020440	-		117509804	1	no_errors	ENST00000393203	ensembl	human	known	74_37	silent	SNP	0.984	A	A	117509804	G	A	117509804	2	1	144	1	0	0	0	0	0	0	0	1	12756	1020	36	2		2	PTGFRN	1	117509804	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	3893622	117509804	131740817	4	10700											
PLXNA2	5362	genome.wustl.edu	37	chr1	208390466	208390466	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctccagcggagttgaTggccacaccctcaggggtct	14	12	3	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:208390466T>A	ENST00000367033.3	-	2	1559	c.802A>T	c.(802-804)Atc>Ttc	p.I268F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	268	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCGGAGTTGATGGCCACACCC	0.572																																																	0								ENSG00000076356						114	113	114					1																	208390466		2203	4300	6503	PLXNA2	SO:0001583	missense	0			-	HGNC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.802A>T	1.37:g.208390466T>A	ENSP00000356000:p.Ile268Phe	Somatic	0	33	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I268F	ENST00000367033.3	37	c.802	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	T	8.111	0.778733	0.16120	.	.	ENSG00000076356	ENST00000367033	T	0.10860	2.83	5.84	2.21	0.28008	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.057010	0.07354	N	0.882856	T	0.06962	0.0177	N	0.08118	0	0.35911	D	0.831129	B;B	0.32939	0.391;0.288	B;B	0.40134	0.32;0.216	T	0.41805	-0.9488	10	0.18276	T	0.48	.	5.5435	0.17051	0.0:0.1475:0.146:0.7065	.	322;268	O75051-2;O75051	.;PLXA2_HUMAN	F	268	ENSP00000356000:I268F	ENSP00000356000:I268F	I	-	1	0	PLXNA2	206457089	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.819000	0.39022	0.441000	0.26529	0.533000	0.62120	ATC	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	T	NM_025179	-		208390466	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	SNP	1.000	A	A	208390466	T	A	208390466	3	1	144	1	0	0	0	0	1	0	0	0	12122	1464	51	5	5006	5	PLXNA2	1	208390466	Missense_Mutation	SNP	T	TCGA-HB-A3L4-01A-11D-A21Q-09	90880662	208390466	40860155	5	10701											
OBSCN	84033	genome.wustl.edu	37	chr1	228494695	228494696	+	Frame_Shift_Ins	INS	-	-	GAGCGTG													gagctgagccgggcgggtgcINSgagcgtggagtggcgcaagg					rs4653939	byFrequency	TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:228494695_228494696insGAGCGTG	ENST00000422127.1	+	45	12064_12065	c.12020_12021insGAGCGTG	c.(12019-12024)gcgagcfs	p.-4010fs	OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.-4967fs|OBSCN_ENST00000366707.4_Frame_Shift_Ins_p.-1644fs|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.-4010fs|OBSCN_ENST00000366709.4_Frame_Shift_Ins_p.-1129fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				CGGGCGGGTGCGAGCGTGGAGT	0.653																																																	0								ENSG00000154358																																			OBSCN	SO:0001589	frameshift_variant	0				HGNC	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.12021_12027dupGAGCGTG	1.37:g.228494696_228494702dupGAGCGTG	ENSP00000409493:p.Glu4010fs	Somatic					0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E4011fs	ENST00000422127.1	37	c.12020_12021	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.653	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		-	NM_052843			228494696	1	no_errors	ENST00000422127	ensembl	human	known	74_37	frame_shift_ins	INS	0.001:0.000	GAGCGTG	GAGCGTG	228494696	-	GAGCGTG	228494695	7	5	144	1	0	1	1	0	0	0	0	0	10814	768	27	0	12194	0	OBSCN	1	228494695	Frame_Shift_Ins	INS	-	TCGA-HB-A3L4-01A-11D-A21Q-09	20104229	228494695	20755926	6	10702											
TARBP1	6894	genome.wustl.edu	37	chr1	234528283	234528283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagataatcaattaGctgaggtggttttacctgaa	10	7	1	3	rs376860218		TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr1:234528283G>T	ENST00000040877.1	-	29	4575	c.4576C>A	c.(4576-4578)Cta>Ata	p.L1526I	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1526					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TAATCAATTAGCTGAGGTGGT	0.343																																																	0								ENSG00000059588						134	133	133					1																	234528283		2203	4300	6503	TARBP1	SO:0001583	missense	0			-	HGNC		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4576C>A	1.37:g.234528283G>T	ENSP00000040877:p.Leu1526Ile	Somatic	0	43	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	38	30.91	Q9H581	Missense_Mutation	SNP							pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.L1526I	ENST00000040877.1	37	c.4576	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547512	0.45383	.	.	ENSG00000059588	ENST00000040877	T	0.51817	0.69	5.72	2.51	0.30379	tRNA/rRNA methyltransferase, SpoU (1);	0.077706	0.53938	D	0.000049	T	0.56455	0.1986	L	0.46947	1.48	0.80722	D	1	D	0.65815	0.995	D	0.85130	0.997	T	0.49986	-0.8880	10	0.34782	T	0.22	-17.0393	9.3668	0.38230	0.2564:0.0:0.7436:0.0	.	1526	Q13395	TARB1_HUMAN	I	1526	ENSP00000040877:L1526I	ENSP00000040877:L1526I	L	-	1	2	TARBP1	232594906	1.000000	0.71417	0.748000	0.31131	0.192000	0.23643	2.980000	0.49321	0.593000	0.29745	0.585000	0.79938	CTA	-	pfam_SpoU_MeTrfase		0.343	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	protein_coding	OTTHUMT00000092616.1	G	NM_005646	-		234528283	-1	no_errors	ENST00000040877	ensembl	human	novel	74_37	missense	SNP	1.000	T	T	234528283	G	T	234528283	3	4	144	1	0	0	0	0	1	0	0	0	15562	962	34	3	297	3	TARBP1	1	234528283	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	6033588	234528283	14722338	7	10703											
DPP4	1803	genome.wustl.edu	37	chr2	162873349	162873349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcattttatccaaaGctgaattgtcttccaggact	7	10	2	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr2:162873349G>T	ENST00000360534.3	-	18	2056	c.1496C>A	c.(1495-1497)gCt>gAt	p.A499D	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	499					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTTATCCAAAGCTGAATTGTC	0.363																																																	0								ENSG00000197635						84	86	85					2																	162873349		2203	4300	6503	DPP4	SO:0001583	missense	0			-	HGNC	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1496C>A	2.37:g.162873349G>T	ENSP00000353731:p.Ala499Asp	Somatic	0	29	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q53TN1	Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A499D	ENST00000360534.3	37	c.1496	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759042	0.31137	.	.	ENSG00000197635	ENST00000360534	D	0.95949	-3.86	5.61	2.32	0.28847	.	0.181585	0.48767	N	0.000177	D	0.87366	0.6159	N	0.10664	0.02	0.40014	D	0.975321	B	0.02656	0.0	B	0.01281	0.0	T	0.79890	-0.1612	10	0.14252	T	0.57	-23.5807	13.6302	0.62191	0.0:0.0:0.326:0.674	.	499	P27487	DPP4_HUMAN	D	499	ENSP00000353731:A499D	ENSP00000353731:A499D	A	-	2	0	DPP4	162581595	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.518000	0.45537	0.816000	0.34421	-0.188000	0.12872	GCT	-	NULL		0.363	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	protein_coding	OTTHUMT00000255079.2	G		-		162873349	-1	no_errors	ENST00000360534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	162873349	G	T	162873349	3	4	144	1	0	0	0	0	1	0	0	0	4731	971	34	3	840	3	DPP4	2	162873349	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		162873349	80326024	8	10704											
ARAP2	116984	genome.wustl.edu	37	chr4	36230792	36230792	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacactaccagaattggaaAgttctatgcagatattctga	8	7	2	3			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr4:36230792A>T	ENST00000303965.4	-	2	806	c.317T>A	c.(316-318)cTt>cAt	p.L106H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	106					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						AGAATTGGAAAGTTCTATGCA	0.378																																																	0								ENSG00000047365						95	92	93					4																	36230792		2203	4300	6503	ARAP2	SO:0001583	missense	0			-	HGNC	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.317T>A	4.37:g.36230792A>T	ENSP00000302895:p.Leu106His	Somatic	0	44	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L106H	ENST00000303965.4	37	c.317	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	6.143	0.394510	0.11638	.	.	ENSG00000047365	ENST00000303965	T	0.63096	-0.02	5.79	0.418	0.16429	.	1.233890	0.05731	N	0.599553	T	0.45316	0.1336	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.14023	0.01;0.003	T	0.36841	-0.9731	10	0.72032	D	0.01	.	2.678	0.05085	0.4089:0.3475:0.1315:0.112	.	36;106	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	H	106	ENSP00000302895:L106H	ENSP00000302895:L106H	L	-	2	0	ARAP2	35907187	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.575000	0.05861	-0.113000	0.11958	-0.323000	0.08544	CTT	-	NULL		0.378	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	A	NM_015230	-		36230792	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	0.000	T	T	36230792	A	T	36230792	3	4	144	1	0	0	0	0	1	0	0	0	839	72	3	5	4925	5	ARAP2	4	36230792	Missense_Mutation	SNP	A	TCGA-HB-A3L4-01A-11D-A21Q-09		36230792	154923484	9	10705											
GABRB1	2560	genome.wustl.edu	37	chr4	47427786	47427786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgagcgaccccaaggcCaccatgtactcctatgacag	10	14	0	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr4:47427786C>A	ENST00000295454.3	+	9	1468	c.1176C>A	c.(1174-1176)gcC>gcA	p.A392A	GABRB1_ENST00000538619.1_Silent_p.A322A	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	392					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)	ACCCCAAGGCCACCATGTACT	0.642																																																	0								ENSG00000163288						56	61	59					4																	47427786		2203	4300	6503	GABRB1	SO:0001819	synonymous_variant	0			-	HGNC		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.1176C>A	4.37:g.47427786C>A		Somatic	0	33	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	27	48.08	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A392	ENST00000295454.3	37	c.1176	CCDS3474.1	4																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	protein_coding	OTTHUMT00000216896.1	C		-		47427786	1	no_errors	ENST00000295454	ensembl	human	known	74_37	silent	SNP	0.996	A	A	47427786	C	A	47427786	2	1	144	1	0	0	0	0	0	0	0	1	6168	581	21	3		3	GABRB1	4	47427786	Silent	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09	11196994	47427786	143726490	10	10706											
SNX25	83891	genome.wustl.edu	37	chr4	186180114	186180114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggaaattgccagacaGctgcaccacagactgagtca	10	10	1	3			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr4:186180114G>A	ENST00000504273.1	+	3	429	c.135G>A	c.(133-135)caG>caA	p.Q45Q	SNX25_ENST00000264694.8_Silent_p.Q45Q			Q9H3E2	SNX25_HUMAN	sorting nexin 25	45	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTGCCAGACAGCTGCACCACA	0.448																																																	0								ENSG00000109762						136	122	127					4																	186180114		2203	4300	6503	SNX25	SO:0001819	synonymous_variant	0			-	HGNC	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.135G>A	4.37:g.186180114G>A		Somatic	0	55	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	Q3ZT30|Q8N6K3	Silent	SNP							pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.Q45	ENST00000504273.1	37	c.135	CCDS34116.1	4																																																																																			-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc		0.448	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	protein_coding	OTTHUMT00000360756.1	G	NM_031953	-		186180114	1	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	SNP	1.000	A	A	186180114	G	A	186180114	2	1	144	1	0	0	0	0	0	0	0	1	14904	962	34	2		2	SNX25	4	186180114	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	138752328	186180114	4974162	11	10707											
SKIV2L2	23517	genome.wustl.edu	37	chr5	54624535	54624535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttataggaatacccGttcattcttgatgcttttca	6	7	3	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr5:54624535G>A	ENST00000230640.5	+	5	665	c.411G>A	c.(409-411)ccG>ccA	p.P137P	SKIV2L2_ENST00000545714.1_Silent_p.P36P	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	137					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGGAATACCCGTTCATTCTTG	0.378																																					Melanoma(2;92 134 23744 29976 33782)												0								ENSG00000039123						147	140	143					5																	54624535		2203	4300	6503	SKIV2L2	SO:0001819	synonymous_variant	0			-	HGNC	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.411G>A	5.37:g.54624535G>A		Somatic	0	79	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	52	48.00	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP							NULL	p.R69H	ENST00000230640.5	37	c.206	CCDS3967.1	5																																																																																			-	NULL		0.378	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	protein_coding	OTTHUMT00000214108.1	G		-		54624535	1	no_errors	ENST00000506750	ensembl	human	known	74_37	missense	SNP	0.902	A	A	54624535	G	A	54624535	2	1	144	1	0	0	0	0	0	0	0	1	14368	1132	40	1		1	SKIV2L2	5	54624535	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		54624535	126290725	12	10708											
REEP5	7905	genome.wustl.edu	37	chr5	112222764	112222764	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccttgtctttaaggtccttGaccacactgtccatctggga	9	12	2	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr5:112222764G>T	ENST00000379638.4	-	4	816	c.468C>A	c.(466-468)gtC>gtA	p.V156V	CTC-487M23.8_ENST00000506997.1_Intron|REEP5_ENST00000474542.2_5'UTR|CTC-487M23.8_ENST00000512790.1_Intron|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_3'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	156						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TAAGGTCCTTGACCACACTGT	0.522																																																	0								ENSG00000129625						212	179	190					5																	112222764		2202	4300	6502	REEP5	SO:0001819	synonymous_variant	0			-	HGNC	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"Receptor accessory proteins"	30077	protein-coding gene	gene with protein product	"deleted in polyposis 1", "polyposis locus protein 1", "polyposis coli region hypothetical protein DP1"	125265	"chromosome 5 open reading frame 18"	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.468C>A	5.37:g.112222764G>T		Somatic	0	81	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	71	47.79	B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Silent	SNP							pfam_TB2_DP1_HVA22	p.V156	ENST00000379638.4	37	c.468	CCDS4109.2	5																																																																																			-	NULL		0.522	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP5	protein_coding	OTTHUMT00000250739.2	G	NM_005669	-		112222764	-1	no_errors	ENST00000379638	ensembl	human	known	74_37	silent	SNP	1.000	T	T	112222764	G	T	112222764	2	4	144	1	0	0	0	0	0	0	0	1	13216	1277	45	3		3	REEP5	5	112222764	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	57598229	112222764	68692496	13	10709											
SRF	6722	genome.wustl.edu	37	chr6	43143443	43143450	+	Splice_Site	DEL	GGACACAC	GGACACAC	-													tcatctttactctgggtataGgacacactgaagccggcgtt							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	GGACACAC	GGACACAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr6:43143443_43143450delGGACACAC	ENST00000265354.4	+	3	1138_1145	c.780_787delGGACACAC	c.(778-789)aaggacacactg>aatg	p.KDTL260fs	SRF_ENST00000457278.2_Splice_Site_p.KDTL56fs	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	260					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCTGGGTATAGGACACACTGAAGCCGGC	0.548																																																	0								ENSG00000112658																																			SRF	SO:0001630	splice_region_variant	0				HGNC	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.781-1GGACACAC>-	6.37:g.43143443_43143450delGGACACAC		Somatic					0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5T648	Frame_Shift_Del	DEL							pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.K261fs	ENST00000265354.4	37	c.782_787	CCDS4889.1	6																																																																																			-	NULL		0.548	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRF	protein_coding	OTTHUMT00000040581.1	GGACACAC	NM_003131		Frame_Shift_Del	43143450	1	no_errors	ENST00000265354	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:0.809:0.785:0.793:0.701:0.997	-	-	43143450	GGACACAC	-	43143443	8	5	144	1	0	1	0	1	0	0	1	0	15150	1014	35	0	790	0	SRF	6	43143443	Splice_Site	DEL	GGACACAC	TCGA-HB-A3L4-01A-11D-A21Q-09		43143443	127971624	14	10710	174	2									
SRF	6722	genome.wustl.edu	37	chr6	43143452	43143453	+	Frame_Shift_Del	DEL	GA	GA	-													ctctgggtataggacacactGaagccggcgttcacagtcac							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr6:43143452_43143453delGA	ENST00000265354.4	+	3	1147_1148	c.789_790delGA	c.(787-792)ctgaagfs	p.K264fs	SRF_ENST00000457278.2_Frame_Shift_Del_p.K60fs	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	264					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGACACACTGAAGCCGGCGTT	0.545																																																	0								ENSG00000112658																																			SRF	SO:0001589	frameshift_variant	0				HGNC	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.789_790delGA	6.37:g.43143452_43143453delGA	ENSP00000265354:p.Lys264fs	Somatic	0	37	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	Q5T648	Frame_Shift_Del	DEL							pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.K264fs	ENST00000265354.4	37	c.789_790	CCDS4889.1	6																																																																																			-	NULL		0.545	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRF	protein_coding	OTTHUMT00000040581.1	GA	NM_003131			43143453	1	no_errors	ENST00000265354	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	43143453	GA	-	43143452	7	5	144	1	0	1	0	1	0	0	0	0	15150	1277	45	0	799	0	SRF	6	43143452	Frame_Shift_Del	DEL	GA	TCGA-HB-A3L4-01A-11D-A21Q-09	9	43143452	127971615	15	10711	174	2									
PCLO	27445	genome.wustl.edu	37	chr7	82584755	82584755	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgacgtaactcttctgtCggagatgcatcttcaatggg	11	10	4	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr7:82584755C>T	ENST00000333891.9	-	5	5851	c.5514G>A	c.(5512-5514)ccG>ccA	p.P1838P	PCLO_ENST00000423517.2_Silent_p.P1838P	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						ACTCTTCTGTCGGAGATGCAT	0.428																																																	0								ENSG00000186472						227	209	215					7																	82584755		1869	4105	5974	PCLO	SO:0001819	synonymous_variant	0			-	HGNC	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.5514G>A	7.37:g.82584755C>T		Somatic	0	67	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	5	88.10		Silent	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P1838	ENST00000333891.9	37	c.5514	CCDS47630.1	7																																																																																			-	NULL		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82584755	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	SNP	0.608	T	T	82584755	C	T	82584755	2	4	144	1	0	0	0	0	0	0	0	1	11585	871	31	1		1	PCLO	7	82584755	Silent	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09		82584755	76553908	16	10712											
FZD6	8323	genome.wustl.edu	37	chr8	104342132	104342138	+	Frame_Shift_Del	DEL	GAGAGAG	GAGAGAG	-													acctcaccagaaacatcaatGagagaggtgaaagcggacgg							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	GAGAGAG	GAGAGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr8:104342132_104342138delGAGAGAG	ENST00000358755.4	+	6	2108_2114	c.1791_1797delGAGAGAG	c.(1789-1797)atgagagagfs	p.MRE597fs	FZD6_ENST00000523739.1_Frame_Shift_Del_p.MRE565fs|FZD6_ENST00000522566.1_Frame_Shift_Del_p.MRE597fs|FZD6_ENST00000540287.1_Frame_Shift_Del_p.MRE292fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	597					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAACATCAATGAGAGAGGTGAAAGCGG	0.498																																																	0								ENSG00000164930																																			FZD6	SO:0001589	frameshift_variant	0				HGNC	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1791_1797delGAGAGAG	8.37:g.104342132_104342138delGAGAGAG	ENSP00000351605:p.Met597fs	Somatic					0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Frame_Shift_Del	DEL							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R598fs	ENST00000358755.4	37	c.1791_1797	CCDS6298.1	8																																																																																			-	NULL		0.498	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	protein_coding	OTTHUMT00000380560.1	GAGAGAG	NM_003506			104342138	1	no_errors	ENST00000358755	ensembl	human	known	74_37	frame_shift_del	DEL	0.997:1.000:0.999:0.997:0.998:0.983:0.019	-	-	104342138	GAGAGAG	-	104342132	7	5	144	1	0	1	0	1	0	0	0	0	6136	1290	45	0	1809	0	FZD6	8	104342132	Frame_Shift_Del	DEL	GAGAGAG	TCGA-HB-A3L4-01A-11D-A21Q-09		104342132	42021890	17	10713											
SMARCA2	6595	genome.wustl.edu	37	chr9	2039773	2039773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcaacaacagcagcaGcaacagcagcagcagcagca	10	13	0	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr9:2039773G>A	ENST00000382203.1	+	4	872	c.663G>A	c.(661-663)caG>caA	p.Q221Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Silent_p.Q221Q|SMARCA2_ENST00000357248.2_Silent_p.Q221Q|SMARCA2_ENST00000382194.1_Silent_p.Q221Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	221	Poly-Gln.				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)		aacagcagcagcaacagcagc	0.627																																																	0								ENSG00000080503						12	14	14					9																	2039773		2198	4286	6484	SMARCA2	SO:0001819	synonymous_variant	0			-	HGNC	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.663G>A	9.37:g.2039773G>A		Somatic	0	32	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP							pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.Q221	ENST00000382203.1	37	c.663	CCDS34977.1	9																																																																																			-	NULL		0.627	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	G	NM_003070	-		2039773	1	no_errors	ENST00000349721	ensembl	human	known	74_37	silent	SNP	0.982	A	A	2039773	G	A	2039773	2	1	144	1	0	0	0	0	0	0	0	1	14777	962	34	2		2	SMARCA2	9	2039773	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		2039773	139173658	18	10714											
LHPP	64077	genome.wustl.edu	37	chr10	126177109	126177109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccttccaggtgctcatggaGctggaaaaacctgtgctcat	11	11	2	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr10:126177109G>C	ENST00000368842.5	+	3	460	c.432G>C	c.(430-432)gaG>gaC	p.E144D	LHPP_ENST00000368839.1_Missense_Mutation_p.E144D|LHPP_ENST00000392757.4_Missense_Mutation_p.E144D	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	144					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TGCTCATGGAGCTGGAAAAAC	0.463																																					GBM(165;1980 2715 15999 18454)												0								ENSG00000107902						127	124	125					10																	126177109		2203	4300	6503	LHPP	SO:0001583	missense	0			-	HGNC	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.432G>C	10.37:g.126177109G>C	ENSP00000357835:p.Glu144Asp	Somatic	0	43	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	26	50.94	B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.E144D	ENST00000368842.5	37	c.432	CCDS7640.1	10	.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208753	0.06140	.	.	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.21361	2.01;2.01;2.01	5.16	1.8	0.24995	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.446177	0.22966	N	0.053495	T	0.07954	0.0199	N	0.12422	0.21	0.30706	N	0.749814	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.23084	-1.0198	10	0.12103	T	0.63	-31.0238	2.4591	0.04537	0.2587:0.2052:0.4307:0.1054	.	144;144;144	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	D	144	ENSP00000376512:E144D;ENSP00000357835:E144D;ENSP00000357832:E144D	ENSP00000357832:E144D	E	+	3	2	LHPP	126167099	0.041000	0.20044	1.000000	0.80357	0.923000	0.55619	-0.521000	0.06245	0.618000	0.30179	-0.345000	0.07892	GAG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA		0.463	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHPP	protein_coding	OTTHUMT00000050870.1	G	NM_022126	-		126177109	1	no_errors	ENST00000368842	ensembl	human	known	74_37	missense	SNP	1.000	C	C	126177109	G	C	126177109	3	2	144	1	0	0	0	0	1	0	0	0	8771	962	34	4	442	4	LHPP	10	126177109	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		126177109	9357638	19	10715											
APOA4	337	genome.wustl.edu	37	chr11	116691844	116691844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgttgaagttttccccGtagggctccacccggcgtcg	12	13	0	1	rs373920026		TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr11:116691844G>A	ENST00000357780.3	-	3	1044	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	310	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGTTTTCCCCGTAGGGCTCCA	0.637																																																	0								ENSG00000110244	G		1,4401	2.1+/-5.4	0,1,2200	53	57	56		930	-3.6	0	11		56	2,8582	2.2+/-6.3	0,2,4290	no	coding-synonymous	APOA4	NM_000482.3		0,3,6490	AA,AG,GG		0.0233,0.0227,0.0231		310/397	116691844	3,12983	2201	4292	6493	APOA4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.930C>T	11.37:g.116691844G>A		Somatic	0	28	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A8MSL6|Q14CW8|Q6Q787	Silent	SNP							pfam_ApoA1_A4_E	p.Y310	ENST00000357780.3	37	c.930	CCDS31681.1	11																																																																																			-	pfam_ApoA1_A4_E		0.637	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	protein_coding	OTTHUMT00000106279.2	G	NM_000482	-		116691844	-1	no_errors	ENST00000357780	ensembl	human	known	74_37	silent	SNP	0.006	A	A	116691844	G	A	116691844	2	1	144	1	0	0	0	0	0	0	0	1	783	1140	40	1		1	APOA4	11	116691844	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		116691844	18314672	20	10716											
GPR19	2842	genome.wustl.edu	37	chr12	12815224	12815224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacatagtgaaggtctgtTtggttgctcatccaactgtg	11	8	2	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr12:12815224T>C	ENST00000540510.1	-	2	351	c.159A>G	c.(157-159)caA>caG	p.Q53Q	GPR19_ENST00000332427.2_Silent_p.Q53Q			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GAAGGTCTGTTTGGTTGCTCA	0.507																																																	0								ENSG00000183150						163	150	155					12																	12815224		2203	4300	6503	GPR19	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.159A>G	12.37:g.12815224T>C		Somatic	0	51	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	7	92.13	A8K3T3|B0M0K1|Q6NWM4	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q53	ENST00000540510.1	37	c.159	CCDS8652.1	12																																																																																			-	NULL		0.507	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	protein_coding	OTTHUMT00000400662.1	T	NM_006143	-		12815224	-1	no_errors	ENST00000332427	ensembl	human	known	74_37	silent	SNP	0.000	C	C	12815224	T	C	12815224	2	2	144	1	0	0	0	0	0	0	0	1	6681	1838	64	5		5	GPR19	12	12815224	Silent	SNP	T	TCGA-HB-A3L4-01A-11D-A21Q-09		12815224	121036671	21	10717											
FAIM2	23017	genome.wustl.edu	37	chr12	50295102	50295102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggccttgttagccaCggagagctatggagtagagt	15	9	0	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr12:50295102C>T	ENST00000320634.3	-	2	116	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	FAIM2_ENST00000550890.1_De_novo_Start_InFrame	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	8					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						TTGTTAGCCACGGAGAGCTAT	0.577																																																	0								ENSG00000135472						36	36	36					12																	50295102		2203	4300	6503	FAIM2	SO:0001583	missense	0			-	HGNC	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.22G>A	12.37:g.50295102C>T	ENSP00000321951:p.Val8Met	Somatic	0	45	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP							pfam_Bax_inhibitor_1-related	p.V8M	ENST00000320634.3	37	c.22	CCDS8791.1	12	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699006	0.68501	.	.	ENSG00000135472	ENST00000320634;ENST00000550635	T	0.36340	1.26	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000009	T	0.44993	0.1320	L	0.44542	1.39	0.45284	D	0.998283	D	0.67145	0.996	P	0.54401	0.751	T	0.32134	-0.9918	10	0.54805	T	0.06	-14.0643	15.01	0.71542	0.0:1.0:0.0:0.0	.	8	Q9BWQ8	FAIM2_HUMAN	M	8	ENSP00000321951:V8M	ENSP00000321951:V8M	V	-	1	0	FAIM2	48581369	0.996000	0.38824	1.000000	0.80357	0.829000	0.46940	3.606000	0.54095	2.627000	0.88993	0.561000	0.74099	GTG	-	NULL		0.577	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	protein_coding	OTTHUMT00000405984.1	C	NM_012306	-		50295102	-1	no_errors	ENST00000320634	ensembl	human	known	74_37	missense	SNP	0.999	T	T	50295102	C	T	50295102	3	4	144	1	0	0	0	0	1	0	0	0	5378	536	19	1	972	1	FAIM2	12	50295102	Missense_Mutation	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09	37479878	50295102	83556793	22	10718											
GPR133	283383	genome.wustl.edu	37	chr12	131498757	131498757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggatcgcggaggccAtgcatcaccaggactgcctg	12	14	1	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr12:131498757A>G	ENST00000261654.5	+	13	1904	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	GPR133_ENST00000376682.4_Missense_Mutation_p.M135V|GPR133_ENST00000535015.1_Missense_Mutation_p.M481V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	449					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGCGGAGGCCATGCATCACCA	0.592																																																	0								ENSG00000111452						114	95	102					12																	131498757		2203	4300	6503	GPR133	SO:0001583	missense	0			-	HGNC	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1345A>G	12.37:g.131498757A>G	ENSP00000261654:p.Met449Val	Somatic	0	41	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.M449V	ENST00000261654.5	37	c.1345	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	a	0.013	-1.619727	0.00828	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000545900;ENST00000376682	T;T;T	0.38240	1.21;1.21;1.15	4.43	2.57	0.30868	.	0.550721	0.18534	N	0.138404	T	0.10723	0.0262	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32375	-0.9909	10	0.11794	T	0.64	.	6.4026	0.21646	0.2378:0.0:0.7622:0.0	.	481;449	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	449;481;145;135	ENSP00000261654:M449V;ENSP00000444425:M481V;ENSP00000365872:M135V	ENSP00000261654:M449V	M	+	1	0	GPR133	130064710	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.445000	0.35079	0.412000	0.25729	-0.253000	0.11424	ATG	-	NULL		0.592	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	protein_coding	OTTHUMT00000399356.1	A	NM_198827	-		131498757	1	no_errors	ENST00000261654	ensembl	human	known	74_37	missense	SNP	0.007	G	G	131498757	A	G	131498757	3	3	144	1	0	0	0	0	1	0	0	0	6645	217	8	5	1395	5	GPR133	12	131498757	Missense_Mutation	SNP	A	TCGA-HB-A3L4-01A-11D-A21Q-09	81203655	131498757	2353138	23	10719											
HNRNPA1L2	144983	genome.wustl.edu	37	chr13	53217551	53217553	+	In_Frame_Del	DEL	CAG	CAG	-													caaggtggctatggcgtttcCagcagcagcagtagctatgg					rs549497633	byFrequency	TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr13:53217551_53217553delCAG	ENST00000357495.2	+	1	984_986	c.924_926delCAG	c.(922-927)tccagc>tcc	p.308_309SS>S	HNRNPA1L2_ENST00000398039.1_In_Frame_Del_p.308_309SS>S|HNRNPA1L2_ENST00000342657.3_In_Frame_Del_p.308_309SS>S			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	308	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						ATGGCGTTTCCAGCAGCAGCAGT	0.498																																																	0								ENSG00000139675																																			HNRNPA1L2	SO:0001651	inframe_deletion	0				HGNC		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"RNA binding motif (RRM) containing"	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.924_926delCAG	13.37:g.53217560_53217562delCAG	ENSP00000350090:p.Ser313del	Somatic	0	19	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q5TBS2	In_Frame_Del	DEL							pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.S312in_frame_del	ENST00000357495.2	37	c.924_926	CCDS31980.1	13																																																																																			-	NULL		0.498	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	protein_coding	OTTHUMT00000045098.1	CAG	NM_001011724			53217553	1	no_errors	ENST00000342657	ensembl	human	known	74_37	in_frame_del	DEL	0.015:0.792:0.834	-	-	53217553	CAG	-	53217551	7	5	144	1	0	1	0	1	0	0	0	0	7260	581	21	0	926	0	HNRNPA1L2	13	53217551	In_Frame_Del	DEL	CAG	TCGA-HB-A3L4-01A-11D-A21Q-09		53217551	61952327	24	10720											
PCDH9	5101	genome.wustl.edu	37	chr13	66878902	66878902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttgaaatggccttcattgGagccatactgcttacggtca	10	9	2	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr13:66878902G>T	ENST00000377865.2	-	4	3733	c.3599C>A	c.(3598-3600)tCc>tAc	p.S1200Y	PCDH9_ENST00000456367.1_Missense_Mutation_p.S1166Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.S1166Y|PCDH9_ENST00000544246.1_Missense_Mutation_p.S1200Y			Q9HC56	PCDH9_HUMAN	protocadherin 9	1200					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCCTTCATTGGAGCCATACTG	0.488																																																	0								ENSG00000184226						175	138	150					13																	66878902		2203	4300	6503	PCDH9	SO:0001583	missense	0			-	HGNC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3599C>A	13.37:g.66878902G>T	ENSP00000367096:p.Ser1200Tyr	Somatic	0	85	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1200Y	ENST00000377865.2	37	c.3599	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742453	0.49151	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.58940	0.32;0.32;0.3;0.3	6.05	6.05	0.98169	.	0.306802	0.23920	N	0.043257	T	0.55673	0.1935	N	0.22421	0.69	0.38268	D	0.942071	P;P;P	0.41041	0.617;0.736;0.617	B;P;B	0.48227	0.261;0.571;0.367	T	0.62067	-0.6932	10	0.87932	D	0	.	16.0133	0.80420	0.0:0.1336:0.8664:0.0	.	1158;1166;1200	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	Y	1200;1200;1166;1166	ENSP00000442186:S1200Y;ENSP00000367096:S1200Y;ENSP00000401699:S1166Y;ENSP00000332060:S1166Y	ENSP00000332060:S1166Y	S	-	2	0	PCDH9	65776903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.396000	0.59684	2.878000	0.98634	0.650000	0.86243	TCC	-	NULL		0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	protein_coding	OTTHUMT00000276387.1	G	NM_203487	-		66878902	-1	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66878902	G	T	66878902	3	4	144	1	0	0	0	0	1	0	0	0	11520	1174	41	3	118	3	PCDH9	13	66878902	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	13661351	66878902	48290976	25	10721											
GMPR2	51292	genome.wustl.edu	37	chr14	24707611	24707611	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggcgtggctgagtacaGgtatgtgtggaggcccagga	20	6	0	1			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr14:24707611G>A	ENST00000355299.4	+	9	1318	c.857G>A	c.(856-858)aGa>aAa	p.R286K	GMPR2_ENST00000399440.2_Splice_Site_p.R286K|GMPR2_ENST00000557854.1_Missense_Mutation_p.R304K|GMPR2_ENST00000559836.1_Splice_Site_p.R286K|GMPR2_ENST00000559910.1_Splice_Site_p.R253K|GMPR2_ENST00000559104.1_Splice_Site_p.R271K|GMPR2_ENST00000348719.7_Missense_Mutation_p.R286K|GMPR2_ENST00000420554.2_Splice_Site_p.R304K|GMPR2_ENST00000456667.3_Splice_Site_p.R258K	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	286	GMP binding.				GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GCTGAGTACAGGTATGTGTGG	0.517																																																	0								ENSG00000100938						92	98	96					14																	24707611		2039	4203	6242	GMPR2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.857+1G>A	14.37:g.24707611G>A		Somatic	0	20	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP							pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1	p.R286K	ENST00000355299.4	37	c.857	CCDS41935.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.691749	0.96793	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;2.02;-1.15	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	L	0.58969	1.84	0.80722	D	1	B;D;D;D;D;D	0.61080	0.41;0.985;0.958;0.989;0.958;0.958	B;P;P;P;P;P	0.57244	0.198;0.816;0.745;0.737;0.674;0.739	T	0.78076	-0.2345	10	0.20519	T	0.43	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	123;258;286;304;288;286	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	K	286;286;304;286;286;258	ENSP00000347449:R286K;ENSP00000392859:R304K;ENSP00000382369:R286K;ENSP00000334409:R286K;ENSP00000405743:R258K	ENSP00000334409:R286K	R	+	2	0	GMPR2	23777451	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.675000	0.98638	2.941000	0.99782	0.655000	0.94253	AGA;AGA;AGA;AGA;AGG;AGA	-	tigrfam_GMP_reduct1		0.517	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GMPR2	protein_coding	OTTHUMT00000415821.2	G	NM_016576	-	Missense_Mutation	24707611	1	no_errors	ENST00000348719	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24707611	G	A	24707611	5	1	144	1	0	0	0	0	0	0	1	0	6499	1014	35	2	941	2	GMPR2	14	24707611	Splice_Site	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		24707611	82641929	26	10722											
SOS2	6655	genome.wustl.edu	37	chr14	50585356	50585356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgccccagtggaggtggCtgaagattaaatggacagtt	14	6	0	3			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr14:50585356C>T	ENST00000216373.5	-	23	3979	c.3705G>A	c.(3703-3705)caG>caA	p.Q1235Q	VCPKMT_ENST00000395859.2_5'Flank|SOS2_ENST00000543680.1_Silent_p.Q1202Q|VCPKMT_ENST00000395860.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1235					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GTGGAGGTGGCTGAAGATTAA	0.522																																																	0								ENSG00000100485						131	126	128					14																	50585356		2203	4300	6503	SOS2	SO:0001819	synonymous_variant	0			-	HGNC	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3705G>A	14.37:g.50585356C>T		Somatic	0	72	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	63	38.83	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q1235	ENST00000216373.5	37	c.3705	CCDS9697.1	14																																																																																			-	NULL		0.522	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	protein_coding	OTTHUMT00000276878.2	C		-		50585356	-1	no_errors	ENST00000216373	ensembl	human	known	74_37	silent	SNP	1.000	T	T	50585356	C	T	50585356	2	4	144	1	0	0	0	0	0	0	0	1	14945	796	28	2		2	SOS2	14	50585356	Silent	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09	25877745	50585356	56764184	27	10723											
TLN2	83660	genome.wustl.edu	37	chr15	63029075	63029075	+	Splice_Site	DEL	A	A	-													tctgatggactttttcccccAggggtggctgctagagagac							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr15:63029075delA	ENST00000561311.1	+	28	3588		c.e28-1		TLN2_ENST00000559908.1_Splice_Site|TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTTTCCCCCAGGGGTGGCTG	0.577																																																	0								ENSG00000171914						29	32	31					15																	63029075		2202	4300	6502	TLN2	SO:0001630	splice_region_variant	0				HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3359-1A>-	15.37:g.63029075delA		Somatic	0	22	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	A6NLB8	Splice_Site	DEL							-	e26-2	ENST00000561311.1	37	c.3359-2	CCDS32261.1	15																																																																																			-	-		0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	A			Intron	63029075	1	no_errors	ENST00000306829	ensembl	human	known	74_37	splice_site_del	DEL	0.998	-	-	63029075	A	-	63029075	8	5	144	1	0	1	0	1	0	0	1	0	15955	202	7	0	3459	0	TLN2	15	63029075	Splice_Site	DEL	A	TCGA-HB-A3L4-01A-11D-A21Q-09		63029075	39502317	28	10724											
SLC5A11	115584	genome.wustl.edu	37	chr16	24918471	24918471	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctccggcctcgggcatctGagaaggagctcatgattgtg	13	11	2	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr16:24918471G>T	ENST00000347898.3	+	12	1862	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	SLC5A11_ENST00000424767.2_Nonsense_Mutation_p.E379*|SLC5A11_ENST00000449109.2_Nonsense_Mutation_p.E258*|SLC5A11_ENST00000567758.1_Nonsense_Mutation_p.E379*|SLC5A11_ENST00000539472.1_Nonsense_Mutation_p.E350*|SLC5A11_ENST00000569071.1_Nonsense_Mutation_p.E258*|SLC5A11_ENST00000568579.1_Nonsense_Mutation_p.E344*|SLC5A11_ENST00000545376.1_Nonsense_Mutation_p.E344*|SLC5A11_ENST00000565769.1_Nonsense_Mutation_p.E350*	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCGGGCATCTGAGAAGGAGCT	0.597																																																	0								ENSG00000158865						102	105	104					16																	24918471		2197	4300	6497	SLC5A11	SO:0001587	stop_gained	0			-	HGNC	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1240G>T	16.37:g.24918471G>T	ENSP00000289932:p.Glu414*	Somatic	0	26	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67		Nonsense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.E414*	ENST00000347898.3	37	c.1240	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.740880	0.98462	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	.	.	.	5.57	5.57	0.84162	.	0.047074	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.0478	0.86509	0.0:0.0:1.0:0.0	.	.	.	.	X	414;258;379;344;350	.	ENSP00000289932:E414X	E	+	1	0	SLC5A11	24825972	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.700000	0.98707	2.633000	0.89246	0.563000	0.77884	GAG	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.597	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	protein_coding	OTTHUMT00000214091.3	G	NM_052944	-		24918471	1	no_errors	ENST00000347898	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	24918471	G	T	24918471	4	4	144	1	0	0	0	0	0	1	0	0	14671	1291	45	3	1282	3	SLC5A11	16	24918471	Nonsense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		24918471	65436282	29	10725											
ELAC2	60528	genome.wustl.edu	37	chr17	12917814	12917814	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attgcttcgaggtatttttcCtaatgaaaaacaaagaaatg	7	5	0	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr17:12917814C>G	ENST00000338034.4	-	5	672		c.e5-1		ELAC2_ENST00000609345.1_Splice_Site|ELAC2_ENST00000578071.1_Intron|ELAC2_ENST00000395962.2_Splice_Site|ELAC2_ENST00000426905.3_Splice_Site	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2						mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTATTTTTCCTAATGAAAAA	0.333																																																	0								ENSG00000006744						117	119	119					17																	12917814		2203	4300	6503	ELAC2	SO:0001630	splice_region_variant	0			-	HGNC	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.433-1G>C	17.37:g.12917814C>G		Somatic	0	27	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	55	32.93	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Splice_Site	SNP							-	e5-1	ENST00000338034.4	37	c.433-1	CCDS11164.1	17	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683709	0.47991	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	.	.	.	4.89	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.986	0.53147	0.4766:0.5234:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAC2	12858539	1.000000	0.71417	0.877000	0.34402	0.980000	0.70556	5.193000	0.65120	0.190000	0.20209	0.655000	0.94253	.	-	-		0.333	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	protein_coding	OTTHUMT00000129934.5	C		-	Intron	12917814	-1	no_errors	ENST00000338034	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	12917814	C	G	12917814	5	3	144	1	0	0	0	0	0	0	1	0	5049	695	24	4	2128	4	ELAC2	17	12917814	Splice_Site	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09		12917814	68277396	30	10726											
PLEKHM1	9842	genome.wustl.edu	37	chr17	43530773	43530773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatggggatagccacCaggtactgcagcaggaagcc	12	12	1	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr17:43530773C>T	ENST00000430334.3	-	7	2578	c.2445G>A	c.(2443-2445)ctG>ctA	p.L815L	PLEKHM1_ENST00000421073.2_Silent_p.L726L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	815					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGATAGCCACCAGGTACTGCA	0.622																																																	0								ENSG00000225190						45	44	44					17																	43530773		2203	4300	6503	PLEKHM1	SO:0001819	synonymous_variant	0			-	HGNC	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2445G>A	17.37:g.43530773C>T		Somatic	0	60	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	42	50.00	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP							pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L815	ENST00000430334.3	37	c.2445	CCDS32671.1	17																																																																																			-	NULL		0.622	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	protein_coding	OTTHUMT00000444659.1	C	NM_014798	-		43530773	-1	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43530773	C	T	43530773	2	4	144	1	0	0	0	0	0	0	0	1	12082	581	21	2		2	PLEKHM1	17	43530773	Silent	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09	30612959	43530773	37664437	31	10727											
DLGAP1	9229	genome.wustl.edu	37	chr18	3879965	3879965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggggtggtgctccactgggCtcagcaggtagggcttgcgg	19	10	1	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr18:3879965C>A	ENST00000315677.3	-	4	699	c.104G>T	c.(103-105)aGc>aTc	p.S35I	DLGAP1_ENST00000581527.1_Missense_Mutation_p.S35I|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S35I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S35I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	35					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCCACTGGGCTCAGCAGGTA	0.667																																																	0								ENSG00000170579						56	53	54					18																	3879965		2203	4300	6503	DLGAP1	SO:0001583	missense	0			-	HGNC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.104G>T	18.37:g.3879965C>A	ENSP00000316377:p.Ser35Ile	Somatic	0	141	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	126	43.24	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP							pfam_GKAP	p.S35I	ENST00000315677.3	37	c.104	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671364	0.67814	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.17370	2.29;2.28	5.8	4.93	0.64822	.	0.097027	0.85682	D	0.000000	T	0.28333	0.0700	M	0.63843	1.955	0.41256	D	0.986742	P;P;P	0.50617	0.771;0.937;0.905	B;P;P	0.56398	0.424;0.735;0.797	T	0.02797	-1.1109	10	0.87932	D	0	-27.2092	5.5561	0.17117	0.0:0.7387:0.0:0.2613	.	35;35;35	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	I	35	ENSP00000316377:S35I;ENSP00000445973:S35I	ENSP00000316377:S35I	S	-	2	0	DLGAP1	3869965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.748000	0.55142	2.744000	0.94065	0.655000	0.94253	AGC	-	NULL		0.667	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	protein_coding	OTTHUMT00000254394.4	C		-		3879965	-1	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3879965	C	A	3879965	3	1	144	1	0	0	0	0	1	0	0	0	4561	797	28	3	2924	3	DLGAP1	18	3879965	Missense_Mutation	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09		3879965	74197283	32	10728											
ADNP2	22850	genome.wustl.edu	37	chr18	77895236	77895236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagctcctgccgtcagGtgcagctgcaccaatggccg	11	16	1	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr18:77895236G>A	ENST00000262198.4	+	4	2395	c.1940G>A	c.(1939-1941)gGt>gAt	p.G647D		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	647					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGCCGTCAGGTGCAGCTGCA	0.647																																																	0								ENSG00000101544						66	62	64					18																	77895236		2203	4300	6503	ADNP2	SO:0001583	missense	0			-	HGNC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1940G>A	18.37:g.77895236G>A	ENSP00000262198:p.Gly647Asp	Somatic	0	31	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	19	48.65	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.G647D	ENST00000262198.4	37	c.1940	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	G	4.045	0.005982	0.07866	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	4.86	0.63082	.	0.175502	0.38720	N	0.001596	T	0.22975	0.0555	N	0.25647	0.755	0.09310	N	0.999999	P	0.36683	0.565	B	0.33254	0.16	T	0.14392	-1.0474	8	.	.	.	-15.5636	10.7082	0.45966	0.0862:0.0:0.9138:0.0	.	647	Q6IQ32	ADNP2_HUMAN	D	647	.	.	G	+	2	0	ADNP2	75996227	0.257000	0.24022	0.033000	0.17914	0.006000	0.05464	2.386000	0.44380	2.537000	0.85549	0.650000	0.86243	GGT	-	NULL		0.647	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	G	NM_014913	-		77895236	1	no_errors	ENST00000262198	ensembl	human	known	74_37	missense	SNP	0.121	A	A	77895236	G	A	77895236	3	1	144	1	0	0	0	0	1	0	0	0	324	1261	44	2	1950	2	ADNP2	18	77895236	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	74015271	77895236	182012	33	10729											
IL28A	282616	genome.wustl.edu	37	chr19	39760617	39760617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcctcctcacgcgagaCctgaattgtgttgccagtgg	11	13	1	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr19:39760617C>A	ENST00000331982.5	+	6	622	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	189					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TCACGCGAGACCTGAATTGTG	0.537																																																	0								ENSG00000183709						48	47	47					19																	39760617		2203	4300	6503	IFNL2	SO:0001583	missense	0			-	HGNC	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.567C>A	19.37:g.39760617C>A	ENSP00000333639:p.Asp189Glu	Somatic	0	64	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	63	33.68	Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP							NULL	p.D189E	ENST00000331982.5	37	c.567	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824931	0.50739	.	.	ENSG00000183709	ENST00000331982	T	0.52295	0.67	3.27	1.03	0.20045	.	0.000000	0.64402	D	0.000003	T	0.62575	0.2439	M	0.83953	2.67	0.20074	N	0.999936	D	0.89917	1.0	D	0.79108	0.992	T	0.50294	-0.8845	10	0.87932	D	0	-9.0758	3.9503	0.09366	0.0:0.6037:0.2539:0.1424	.	189	Q8IZJ0	IL28A_HUMAN	E	189	ENSP00000333639:D189E	ENSP00000333639:D189E	D	+	3	2	IL28A	44452457	0.945000	0.32115	0.797000	0.32132	0.032000	0.12392	0.324000	0.19610	0.686000	0.31488	0.454000	0.30748	GAC	-	NULL		0.537	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	protein_coding	OTTHUMT00000463833.1	C	NM_172138	-		39760617	1	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	SNP	0.397	A	A	39760617	C	A	39760617	3	1	144	1	0	0	0	0	1	0	0	0	7684	506	18	3	589	3	IL28A	19	39760617	Missense_Mutation	SNP	C	TCGA-HB-A3L4-01A-11D-A21Q-09		39760617	19368366	34	10730											
KCNK15	140730	genome.wustl.edu	37	chr20	43378937	43378937	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgcctgggcctgcggTggacgtgcgtgtccacggag	18	11	0	0			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chr20:43378937T>G	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.W151G	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGGCCTGCGGTGGACGTGCGT	0.711																																																	0								ENSG00000124249						26	24	25					20																	43378937		2199	4292	6491	KCNK15	SO:0001628	intergenic_variant	0			-	HGNC		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378937T>G		Somatic	0	40	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.W151G	ENST00000372851.3	37	c.451	CCDS13338.1	20	.	.	.	.	.	.	.	.	.	.	t	9.458	1.092335	0.20471	.	.	ENSG00000124249	ENST00000372861	D	0.97138	-4.26	4.29	2.18	0.27775	.	0.473958	0.18094	U	0.151884	D	0.89438	0.6715	N	0.08118	0	0.24431	N	0.994579	B	0.02656	0.0	B	0.01281	0.0	T	0.80815	-0.1214	10	0.26408	T	0.33	.	5.6655	0.17693	0.3825:0.5111:0.0:0.1063	.	151	Q9H427	KCNKF_HUMAN	G	151	ENSP00000361952:W151G	ENSP00000361952:W151G	W	+	1	0	KCNK15	42812351	0.042000	0.20092	1.000000	0.80357	0.608000	0.37181	0.118000	0.15605	1.014000	0.39417	-0.140000	0.14226	TGG	-	pirsf_2pore_dom_K_chnl_TASK		0.711	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	protein_coding	OTTHUMT00000101027.2	T	NM_182970	-		43378937	1	no_errors	ENST00000372861	ensembl	human	known	74_37	missense	SNP	0.980	G	G	43378937	T	G	43378937	1	3	144	0	1	0	0	0	0	0	0	0	8064	1696	59	5		5	KCNK15	20	43378937	IGR	SNP	T	TCGA-HB-A3L4-01A-11D-A21Q-09		43378937	19646583	35	10731											
SSX7	280658	genome.wustl.edu	37	chrX	52682511	52682511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctccttgcaaaggcgtcGtctccgttcatggcaccagg	12	13	3	0	rs372765662		TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chrX:52682511G>A	ENST00000298181.5	-	2	170	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CAAAGGCGTCGTCTCCGTTCA	0.547													.|||	1	0.000264901	0	0	3775	,	,		14423	0		0	False		,,,				2504	0.001																0								ENSG00000187754	G		0,3835		0,0,0,1632,571	299	245	263		12	-1.1	0	X		263	1,6727		0,0,1,2428,1871	no	coding-synonymous	SSX7	NM_173358.2		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		4/189	52682511	1,10562	2203	4300	6503	SSX7	SO:0001819	synonymous_variant	0			-	HGNC	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.12C>T	X.37:g.52682511G>A		Somatic	0	261	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	144	328	30.44		Silent	SNP							pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D4	ENST00000298181.5	37	c.12	CCDS14343.1	X																																																																																			-	NULL		0.547	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	protein_coding	OTTHUMT00000056671.1	G	NM_173358	-		52682511	-1	no_errors	ENST00000298181	ensembl	human	known	74_37	silent	SNP	0.001	A	A	52682511	G	A	52682511	2	1	144	1	0	0	0	0	0	0	0	1	15216	1136	40	1		1	SSX7	23	52682511	Silent	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09		52682511	102588049	36	10732											
ATRX	546	genome.wustl.edu	37	chrX	76875878	76875884	+	Frame_Shift_Del	DEL	TTTGAAG	TTTGAAG	-													ctcacactcaattaggttatTttgaagtggtgttcctgtta							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	TTTGAAG	TTTGAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chrX:76875878_76875884delTTTGAAG	ENST00000373344.5	-	20	5465_5471	c.5251_5257delCTTCAAA	c.(5251-5259)cttcaaaatfs	p.LQN1751fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.LQN1713fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1751	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.N1753D(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTAGGTTATTTTGAAGTGGTGTTCCT	0.319			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	lung(2)|bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5251_5257delCTTCAAA	X.37:g.76875878_76875884delTTTGAAG	ENSP00000362441:p.Leu1751fs	Somatic					0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1751fs	ENST00000373344.5	37	c.5257_5251	CCDS14434.1	X																																																																																			-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.319	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TTTGAAG	NM_000489			76875884	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.987:1.000:1.000:1.000:1.000:0.999	-	-	76875884	TTTGAAG	-	76875878	7	5	144	1	0	1	0	1	0	0	0	0	1208	1841	64	0	2285	0	ATRX	23	76875878	Frame_Shift_Del	DEL	TTTGAAG	TCGA-HB-A3L4-01A-11D-A21Q-09	24193367	76875878	78394682	37	10733	175	3									
ATRX	546	genome.wustl.edu	37	chrX	76875886	76875886	+	Missense_Mutation	SNP	G	G	C													caattaggttattttgaagtGgtgttcctgttaaaataatc							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chrX:76875886G>C	ENST00000373344.5	-	20	5463	c.5249C>G	c.(5248-5250)cCa>cGa	p.P1750R	ATRX_ENST00000395603.3_Missense_Mutation_p.P1712R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1750	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTTTGAAGTGGTGTTCCTGT	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						87	74	78					X																	76875886		2201	4294	6495	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5249C>G	X.37:g.76875886G>C	ENSP00000362441:p.Pro1750Arg	Somatic	0	70	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	77	18.95	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1750R	ENST00000373344.5	37	c.5249	CCDS14434.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.086146|4.086146	0.76642|0.76642	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.99766	.|-6.69;-6.69	4.57|4.57	4.57|4.57	0.56435|0.56435	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99896|0.99896	0.9950|0.9950	H|H	0.99368|0.99368	4.535|4.535	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.95864|0.95864	0.8885|0.8885	5|10	.|0.87932	.|D	.|0	-5.529|-5.529	16.6125|16.6125	0.84892|0.84892	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1712;1750	.|P46100-4;P46100	.|.;ATRX_HUMAN	D|R	39|1750;1712	.|ENSP00000362441:P1750R;ENSP00000378967:P1712R	.|ENSP00000362441:P1750R	H|P	-|-	1|2	0|0	ATRX|ATRX	76762542|76762542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.439000|9.439000	0.97543|0.97543	1.833000|1.833000	0.53350|0.53350	0.600000|0.600000	0.82982|0.82982	CAC|CCA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76875886	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76875886	G	C	76875886	3	2	144	1	0	0	0	0	1	0	0	0	1208	1348	47	4	2293	4	ATRX	23	76875886	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	8	76875886	78394674	38	10734	175	3									
ATRX	546	genome.wustl.edu	37	chrX	76875887	76875887	+	Missense_Mutation	SNP	G	G	C													aattaggttattttgaagtgGtgttcctgttaaaataatcc							TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chrX:76875887G>C	ENST00000373344.5	-	20	5462	c.5248C>G	c.(5248-5250)Cca>Gca	p.P1750A	ATRX_ENST00000395603.3_Missense_Mutation_p.P1712A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1750	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTGAAGTGGTGTTCCTGTT	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						87	74	79					X																	76875887		2201	4294	6495	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5248C>G	X.37:g.76875887G>C	ENSP00000362441:p.Pro1750Ala	Somatic	0	70	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	77	18.95	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1750A	ENST00000373344.5	37	c.5248	CCDS14434.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188417|4.188417	0.78789|0.78789	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.99764	.|-6.68;-6.68	4.57|4.57	4.57|4.57	0.56435|0.56435	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99822|0.99822	0.9921|0.9921	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.96614|0.96614	0.9454|0.9454	5|10	.|0.87932	.|D	.|0	-5.529|-5.529	16.6125|16.6125	0.84892|0.84892	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1712;1750	.|P46100-4;P46100	.|.;ATRX_HUMAN	Q|A	38|1750;1712	.|ENSP00000362441:P1750A;ENSP00000378967:P1712A	.|ENSP00000362441:P1750A	H|P	-|-	3|1	2|0	ATRX|ATRX	76762543|76762543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.439000|9.439000	0.97543|0.97543	1.833000|1.833000	0.53350|0.53350	0.600000|0.600000	0.82982|0.82982	CAC|CCA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76875887	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76875887	G	C	76875887	3	2	144	1	0	0	0	0	1	0	0	0	1208	1261	44	4	2294	4	ATRX	23	76875887	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	1	76875887	78394673	39	10735	175	3									
ARMCX6	54470	genome.wustl.edu	37	chrX	100871412	100871412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatcctcagtccagggccGagccatagtttcaaaatcaa	7	14	3	0	rs138992392		TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chrX:100871412G>A	ENST00000361910.4	-	3	543	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	ARMCX6_ENST00000538627.1_Missense_Mutation_p.R67W|ARMCX6_ENST00000539247.1_Missense_Mutation_p.R67W|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	67						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						GTCCAGGGCCGAGCCATAGTT	0.592																																																	0								ENSG00000198960		TRP/ARG,TRP/ARG,TRP/ARG	1,3834		0,1,1631,571	76	70	72		199,199,199	2.8	1	X	dbSNP_134	72	0,6728		0,0,2428,1872	no	missense,missense,missense	ARMCX6	NM_001009584.1,NM_001184768.1,NM_019007.3	101,101,101	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign	67/301,67/301,67/301	100871412	1,10562	2203	4300	6503	ARMCX6	SO:0001583	missense	0			-	HGNC	BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"Armadillo repeat containing"	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.199C>T	X.37:g.100871412G>A	ENSP00000354708:p.Arg67Trp	Somatic	0	82	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	38	56.82	Q9NWJ3	Missense_Mutation	SNP							pfam_ARM-rpt_dom	p.R67W	ENST00000361910.4	37	c.199	CCDS14488.1	X	.	.	.	.	.	.	.	.	.	.	.	5.320	0.244434	0.10077	2.61E-4	0.0	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.48522	0.81;0.81;0.81	3.71	2.83	0.33086	.	0.000000	0.38111	N	0.001802	T	0.46249	0.1383	L	0.36672	1.1	0.29673	N	0.842289	D	0.76494	0.999	P	0.54815	0.761	T	0.44329	-0.9335	10	0.62326	D	0.03	-3.0956	7.6178	0.28169	0.0:0.0:0.7475:0.2525	.	67	Q7L4S7	ARMX6_HUMAN	W	67	ENSP00000354708:R67W;ENSP00000444537:R67W;ENSP00000440648:R67W	ENSP00000354708:R67W	R	-	1	2	ARMCX6	100758068	0.945000	0.32115	0.986000	0.45419	0.047000	0.14425	0.597000	0.24059	0.925000	0.37094	-0.497000	0.04613	CGG	-	NULL		0.592	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX6	protein_coding	OTTHUMT00000057562.1	G	NM_019007	rs138992392		100871412	-1	no_errors	ENST00000361910	ensembl	human	known	74_37	missense	SNP	0.979	A	A	100871412	G	A	100871412	3	1	144	1	0	0	0	0	1	0	0	0	963	1057	37	1	707	1	ARMCX6	23	100871412	Missense_Mutation	SNP	G	TCGA-HB-A3L4-01A-11D-A21Q-09	23995525	100871412	54399148	40	10736											
TRPC5	7224	genome.wustl.edu	37	chrX	111078203	111078203	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatgttcagcagcacTaccagggagatgacattgta	10	9	2	2			TCGA-HB-A3L4-01A-11D-A21Q-09	TCGA-HB-A3L4-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23976ad7-4b4a-48ec-b407-36fd75119645	6bdcbf01-b44e-4688-8d32-1892a63a3d28	g.chrX:111078203T>G	ENST00000262839.2	-	7	2760	c.1842A>C	c.(1840-1842)gtA>gtC	p.V614V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	614					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAGCAGCACTACCAGGGAGA	0.428																																																	0								ENSG00000072315						306	254	272					X																	111078203		2203	4300	6503	TRPC5	SO:0001819	synonymous_variant	0			-	HGNC	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1842A>C	X.37:g.111078203T>G		Somatic	0	56	0		0.711929838615836				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	49	47.31	B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V614	ENST00000262839.2	37	c.1842	CCDS14561.1	X																																																																																			-	pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel		0.428	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	protein_coding	OTTHUMT00000057945.1	T	NM_012471	-		111078203	-1	no_errors	ENST00000262839	ensembl	human	known	74_37	silent	SNP	0.997	G	G	111078203	T	G	111078203	2	3	144	1	0	0	0	0	0	0	0	1	16589	1509	53	5		5	TRPC5	23	111078203	Silent	SNP	T	TCGA-HB-A3L4-01A-11D-A21Q-09	10206791	111078203	44192357	41	10737											
H6PD	9563	genome.wustl.edu	37	chr1	9322245	9322246	+	Missense_Mutation	DNP	GC	GC	CA													agtgcggaggctgtgctgcgGcacaagcttcaggtcttcca							TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:9322245_9322246GC>CA	ENST00000377403.2	+	4	1175_1176	c.873_874GC>CA	c.(871-876)cgGCac>cgCAac	p.H292N	H6PD_ENST00000602477.1_Missense_Mutation_p.H303N	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	292	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGCTGCGGCACAAGCTTCA	0.639																																																	0								ENSG00000049239																																			H6PD	SO:0001583	missense	0			-	HGNC	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	Exception_encountered	1.37:g.9322245_9322246delinsCA	ENSP00000366620:p.His292Asn	Somatic	0	41	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29|30	32.56|31.82	Q4TT33|Q66I35|Q68DT3	Silent|Missense_Mutation	SNP							pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.R291|p.H292N	ENST00000377403.2	37	c.873|c.874	CCDS101.1	1																																																																																			-	pfam_G6P_DH_C		0.639	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	protein_coding	OTTHUMT00000004928.2	G|C	NM_004285	-		9322245|9322246	1	no_errors	ENST00000377403	ensembl	human	known	74_37	silent|missense	SNP	0.429|0.489	C|A	CA	9322246	GC	CA	9322245	3	2	145	1	0	0	0	0	1	0	0	0	6938	1190	42	4	883	4	H6PD	1	9322245	Missense_Mutation	DNP	GC	TCGA-HB-A3YV-01A-11D-A24N-09		9322245	239928376	1	10738											
KAZ	23254	genome.wustl.edu	37	chr1	15420846	15420846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggccatgcctatgtacGtcaaggcctgcacggagaac	12	11	1	2	rs200509529		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:15420846G>A	ENST00000376030.2	+	9	1687	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	465	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCCTATGTACGTCAAGGCCTG	0.627																																																	0								ENSG00000189337	G	ILE/VAL	0,4192		0,0,2096	35	42	39		1393	4.7	1	1		39	1,8421		0,1,4210	yes	missense	KAZN	NM_201628.2	29	0,1,6306	AA,AG,GG		0.0119,0.0,0.0079	benign	465/776	15420846	1,12613	2096	4211	6307	KAZN	SO:0001583	missense	0			-	HGNC	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1393G>A	1.37:g.15420846G>A	ENSP00000365198:p.Val465Ile	Somatic	0	61	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	101	22.31	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP							pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V465I	ENST00000376030.2	37	c.1393	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010105	0.19277	0.0	1.19E-4	ENSG00000189337	ENST00000376030	T	0.48522	0.81	4.68	4.68	0.58851	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.255793	0.26820	N	0.022330	T	0.29749	0.0743	N	0.17345	0.48	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.09530	-1.0670	10	0.12766	T	0.61	-39.5872	13.4568	0.61204	0.0:0.0:1.0:0.0	.	465	Q674X7	KAZRN_HUMAN	I	465	ENSP00000365198:V465I	ENSP00000365198:V465I	V	+	1	0	KAZN	15293433	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.768000	0.68858	2.322000	0.78497	0.561000	0.74099	GTC	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.627	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	protein_coding	OTTHUMT00000005690.2	G	NM_001017999	rs200509529		15420846	1	no_errors	ENST00000376030	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15420846	G	A	15420846	3	1	145	1	0	0	0	0	1	0	0	0	7990	1145	40	1	1683	1	KAZ	1	15420846	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	6098601	15420846	233829775	2	10739											
ZC3H12A	80149	genome.wustl.edu	37	chr1	37947330	37947330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctggcctacgagtctgacGggatcgtggtttccaacgac	13	11	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:37947330G>T	ENST00000373087.6	+	4	828	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGAGTCTGACGGGATCGTGGT	0.567																																																	0								ENSG00000163874						246	211	223					1																	37947330		2203	4300	6503	ZC3H12A	SO:0001583	missense	0			-	HGNC		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.712G>T	1.37:g.37947330G>T	ENSP00000362179:p.Gly238Trp	Somatic	0	49	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	58	36.96		Missense_Mutation	SNP							pfam_RNase_Zc3h12	p.G238W	ENST00000373087.6	37	c.712	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415181	0.62511	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.61158	0.13	5.7	5.7	0.88788	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87790	0.2618	10	0.87932	D	0	-40.2381	19.8471	0.96713	0.0:0.0:1.0:0.0	.	238	Q5D1E8	ZC12A_HUMAN	W	238	ENSP00000362179:G238W	ENSP00000362174:G238W	G	+	1	0	ZC3H12A	37719917	1.000000	0.71417	0.165000	0.22776	0.018000	0.09664	9.807000	0.99171	2.688000	0.91661	0.655000	0.94253	GGG	-	pfam_RNase_Zc3h12		0.567	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	protein_coding	OTTHUMT00000012154.2	G	NM_025079	-		37947330	1	no_errors	ENST00000373087	ensembl	human	known	74_37	missense	SNP	0.999	T	T	37947330	G	T	37947330	3	4	145	1	0	0	0	0	1	0	0	0	17568	1116	39	3	722	3	ZC3H12A	1	37947330	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	22526484	37947330	211303291	3	10740											
SLC35A3	23443	genome.wustl.edu	37	chr1	100483253	100483253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggcacttggaggccttGtaatagctgctgttattaag	11	7	1	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:100483253G>T	ENST00000370155.3	+	7	1161	c.769G>T	c.(769-771)Gta>Tta	p.V257L	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Missense_Mutation_p.V299L|SLC35A3_ENST00000427993.2_Missense_Mutation_p.V257L	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	257					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGGAGGCCTTGTAATAGCTGC	0.284																																					Ovarian(7;298 356 944 2149 6911)												0								ENSG00000117620						45	44	44					1																	100483253		2189	4278	6467	SLC35A3	SO:0001583	missense	0			-	HGNC	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.769G>T	1.37:g.100483253G>T	ENSP00000359174:p.Val257Leu	Somatic	0	50	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP							pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.V299L	ENST00000370155.3	37	c.895	CCDS762.1	1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251802	0.22880	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153	T;T;T	0.42900	0.96;0.96;0.96	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.11023	0.085	0.80722	D	1	B;B	0.19445	0.036;0.001	B;B	0.23419	0.046;0.009	T	0.14090	-1.0485	10	0.06099	T	0.92	-14.5854	19.3509	0.94384	0.0:0.0:1.0:0.0	.	298;257	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	L	257;257;299	ENSP00000359174:V257L;ENSP00000414947:V257L;ENSP00000359172:V299L	ENSP00000359172:V299L	V	+	1	0	SLC35A3	100255841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.916000	0.87491	2.653000	0.90120	0.655000	0.94253	GTA	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.284	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC35A3	protein_coding	OTTHUMT00000029783.1	G	NM_012243	-		100483253	1	no_errors	ENST00000370153	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100483253	G	T	100483253	3	4	145	1	0	0	0	0	1	0	0	0	14580	1377	48	3	791	3	SLC35A3	1	100483253	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	62535923	100483253	148767368	4	10741											
SARS	6301	genome.wustl.edu	37	chr1	109778719	109778719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttaccacattgtgaatAttgtctcaggtatgggaccc	8	10	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:109778719A>G	ENST00000234677.2	+	8	1165	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	SARS_ENST00000369923.4_Missense_Mutation_p.I364V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	364					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CATTGTGAATATTGTCTCAGG	0.512																																																	0								ENSG00000031698						87	81	83					1																	109778719		2203	4300	6503	SARS	SO:0001583	missense	0			-	HGNC	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1090A>G	1.37:g.109778719A>G	ENSP00000234677:p.Ile364Val	Somatic	0	59	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.I364V	ENST00000234677.2	37	c.1090	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.635269	0.87760	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.67171	-0.25;-0.25	5.88	5.88	0.94601	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.78720	-0.2094	10	0.66056	D	0.02	-14.9948	15.9558	0.79886	1.0:0.0:0.0:0.0	.	364;364;364;364	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	V	364	ENSP00000234677:I364V;ENSP00000358939:I364V	ENSP00000234677:I364V	I	+	1	0	SARS	109580242	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	9.271000	0.95698	2.250000	0.74265	0.533000	0.62120	ATT	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1		0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	protein_coding	OTTHUMT00000032394.2	A	NM_006513	-		109778719	1	no_errors	ENST00000369923	ensembl	human	known	74_37	missense	SNP	1.000	G	G	109778719	A	G	109778719	3	3	145	1	0	0	0	0	1	0	0	0	13852	449	16	5	1120	5	SARS	1	109778719	Missense_Mutation	SNP	A	TCGA-HB-A3YV-01A-11D-A24N-09	9295466	109778719	139471902	5	10742											
NBPF10	100132406	genome.wustl.edu	37	chr1	145302775	145302775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggccctcctcactccgTatgagccggacaagtcccag	9	17	1	1	rs376014420		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTCACTCCGTATGAGCCGGA	0.577																																																	0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp	Somatic	0	102	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	Q5RHC0|Q9NWN6	Missense_Mutation	SNP							pfam_NBPF_dom	p.Y405D	ENST00000369339.3	37	c.1213		1	.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT	-	NULL		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	protein_coding	OTTHUMT00000038550.3	T	NM_001039703	-		145302775	1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.000	G	G	145302775	T	G	145302775	3	3	145	1	0	0	0	0	1	0	0	0	10195	1638	57	5	1243	5	NBPF10	1	145302775	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09	35524056	145302775	103947846	6	10743											
HIST2H2BE	8349	genome.wustl.edu	37	chr1	149857909	149857909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcgcacggccgtctggatCtcgcgggatgtgatggtgga	18	9	2	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:149857909C>G	ENST00000369155.2	-	1	323	c.282G>C	c.(280-282)gaG>gaC	p.E94D	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGTCTGGATCTCGCGGGATG	0.642																																																	0								ENSG00000184678						42	45	44					1																	149857909		2202	4294	6496	HIST2H2BE	SO:0001583	missense	0			-	HGNC	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.282G>C	1.37:g.149857909C>G	ENSP00000358151:p.Glu94Asp	Somatic	0	88	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	68	12.82	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP							pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E94D	ENST00000369155.2	37	c.282	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461924	0.84425	.	.	ENSG00000184678	ENST00000369155	T	0.44881	0.91	5.88	5.88	0.94601	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.60957	1.885	0.42148	D	0.991543	B	0.26400	0.148	B	0.35312	0.2	T	0.28996	-1.0026	10	0.66056	D	0.02	.	18.8885	0.92389	0.0:1.0:0.0:0.0	.	94	Q16778	H2B2E_HUMAN	D	94	ENSP00000358151:E94D	ENSP00000358151:E94D	E	-	3	2	HIST2H2BE	148124533	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.835000	0.62781	2.806000	0.96561	0.580000	0.79431	GAG	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.642	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	protein_coding	OTTHUMT00000033455.1	C	NM_003528	-		149857909	-1	no_errors	ENST00000369155	ensembl	human	known	74_37	missense	SNP	1.000	G	G	149857909	C	G	149857909	3	3	145	1	0	0	0	0	1	0	0	0	7181	912	32	4	102	4	HIST2H2BE	1	149857909	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	4555134	149857909	99392712	7	10744											
C1orf14	81626	genome.wustl.edu	37	chr1	182908516	182908516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaggtattgttccatcctGtatatcacaccacctgaaaa	5	12	1	1	rs143546680		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:182908516G>T	ENST00000367547.3	-	5	1107	c.871C>A	c.(871-873)Cag>Aag	p.Q291K	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.Q172K|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	363										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GTTCCATCCTGTATATCACAC	0.299																																																	0								ENSG00000157060						63	61	62					1																	182908516		2203	4300	6503	SHCBP1L	SO:0001583	missense	0			-	HGNC	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.871C>A	1.37:g.182908516G>T	ENSP00000356518:p.Gln291Lys	Somatic	0	65	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP							superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.Q291K	ENST00000367547.3	37	c.871	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784998	0.31593	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.40225	1.04;1.06	4.97	4.97	0.65823	.	0.120167	0.37857	N	0.001914	T	0.33760	0.0874	L	0.41236	1.265	0.38542	D	0.949251	P;B;P	0.38767	0.646;0.4;0.612	B;B;B	0.37692	0.13;0.121;0.256	T	0.15896	-1.0421	10	0.12430	T	0.62	-10.3566	15.1536	0.72723	0.0:0.0:1.0:0.0	.	363;172;291	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	K	291;360;172	ENSP00000356518:Q291K;ENSP00000397308:Q172K	ENSP00000287709:Q360K	Q	-	1	0	SHCBP1L	181175139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.916000	0.56416	2.311000	0.77944	0.563000	0.77884	CAG	-	NULL		0.299	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	protein_coding	OTTHUMT00000085956.1	G	NM_030933	-		182908516	-1	no_errors	ENST00000367547	ensembl	human	known	74_37	missense	SNP	1.000	T	T	182908516	G	T	182908516	3	4	145	1	0	0	0	0	1	0	0	0	2002	1386	48	3	1114	3	C1orf14	1	182908516	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	33050607	182908516	66342105	8	10745											
CEP170	9859	genome.wustl.edu	37	chr1	243328110	243328110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtggagtccgtccatgaGgtttacaagagtaagtttct	11	6	1	2	rs199844027	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:243328110G>A	ENST00000366542.1	-	13	3203	c.3152C>T	c.(3151-3153)cCt>cTt	p.P1051L	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.P953L|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.P953L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1051	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				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)			CCGTCCATGAGGTTTACAAGA	0.423																																																	0								ENSG00000143702						34	32	32					1																	243328110		1792	4039	5831	CEP170	SO:0001583	missense	0			-	HGNC	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.3152C>T	1.37:g.243328110G>A	ENSP00000355500:p.Pro1051Leu	Somatic	0	37	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP							pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.P1051L	ENST00000366542.1	37	c.3152	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.67|10.67	1.415343|1.415343	0.25552|0.25552	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	.|T;T;T	.|0.47869	.|0.84;0.85;0.83	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.404413	.|0.30464	.|N	.|0.009567	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.36616	.|0.561;0.096;0.096;0.072	.|B;B;B;B	.|0.34779	.|0.189;0.033;0.033;0.05	T|T	0.16247|0.16247	-1.0409|-1.0409	5|10	.|0.24483	.|T	.|0.36	0.6847|0.6847	17.6292|17.6292	0.88102|0.88102	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1014;953;953;1051	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	F|L	1015|1051;953;953;12	.|ENSP00000355500:P1051L;ENSP00000355502:P953L;ENSP00000355501:P953L	.|ENSP00000355500:P1051L	L|P	-|-	1|2	0|0	CEP170|CEP170	241394733|241394733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	7.185000|7.185000	0.77714|0.77714	2.390000|2.390000	0.81377|0.81377	0.555000|0.555000	0.69702|0.69702	CTC|CCT	-	NULL		0.423	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	protein_coding	OTTHUMT00000096178.2	G	NM_014812	rs199844027		243328110	-1	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	SNP	1.000	A	A	243328110	G	A	243328110	3	1	145	1	0	0	0	0	1	0	0	0	3252	1000	35	2	1664	2	CEP170	1	243328110	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	60419594	243328110	5922511	9	10746											
RGPD3	653489	genome.wustl.edu	37	chr2	107068731	107068731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcataagattagcataggCcagcagtaagtctgtattgg	11	6	1	1	rs200225138	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:107068731C>T	ENST00000409886.3	-	6	799	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	RGPD3_ENST00000304514.7_Missense_Mutation_p.A238T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	238					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTAGCATAGGCCAGCAGTAAG	0.403																																																	0								ENSG00000153165																																			RGPD3	SO:0001583	missense	0			-	HGNC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.712G>A	2.37:g.107068731C>T	ENSP00000386588:p.Ala238Thr	Somatic	0	23	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	B8ZZM4	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A238T	ENST00000409886.3	37	c.712	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.07	1.530467	0.27387	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.30448	1.53;1.53	2.69	2.69	0.31865	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.47210	0.1433	M	0.64997	1.995	0.28094	N	0.931705	D	0.57571	0.98	P	0.61658	0.892	T	0.31696	-0.9934	9	0.59425	D	0.04	-8.6369	11.1609	0.48516	0.0:1.0:0.0:0.0	.	238	A6NKT7	RGPD3_HUMAN	T	238	ENSP00000386588:A238T;ENSP00000303659:A238T	ENSP00000303659:A238T	A	-	1	0	RGPD3	106435163	1.000000	0.71417	0.987000	0.45799	0.583000	0.36354	5.266000	0.65525	1.501000	0.48654	0.186000	0.17326	GCC	-	NULL		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	protein_coding	OTTHUMT00000329975.1	C	XM_929931	rs200225138		107068731	-1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	SNP	0.999	T	T	107068731	C	T	107068731	3	4	145	1	0	0	0	0	1	0	0	0	13295	739	26	2	4636	2	RGPD3	2	107068731	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09		107068731	136130642	10	10747											
SCN9A	6335	genome.wustl.edu	37	chr2	167138319	167138319	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttgattggtcgtgccCtaaaaaaaaaatcaattaat	6	5	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:167138319C>A	ENST00000409435.1	-	12	1974		c.e12-1		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000375387.4_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTCGTGCCCTAAAAAAAAA	0.333																																																	0								ENSG00000169432						104	98	100					2																	167138319		1827	4088	5915	SCN9A	SO:0001630	splice_region_variant	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1975-1G>T	2.37:g.167138319C>A		Somatic	0	35	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP							-	e12-1	ENST00000409435.1	37	c.1978-1	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239028	0.39598	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166846565	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	7.248000	0.78268	2.861000	0.98227	0.650000	0.86243	.	-	-		0.333	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	C	NM_002977	-	Intron	167138319	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	167138319	C	A	167138319	5	1	145	1	0	0	0	0	0	0	1	0	13933	695	24	3	4052	3	SCN9A	2	167138319	Splice_Site	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	60069588	167138319	76061054	11	10748											
TTN	7273	genome.wustl.edu	37	chr2	179408710	179408710	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taattgcccggcttgcaaggTcaatgccctgcttgctccac	9	14	1	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:179408710T>A	ENST00000591111.1	-	296	91462	c.91238A>T	c.(91237-91239)gAc>gTc	p.D30413V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23181V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32054V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29486V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23114V|TTN_ENST00000460472.2_Missense_Mutation_p.D22989V|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30413	Ig-like 137.				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)			GCTTGCAAGGTCAATGCCCTG	0.488																																																	0								ENSG00000155657						172	162	165					2																	179408710		1975	4166	6141	TTN	SO:0001583	missense	0			-	HGNC	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.91238A>T	2.37:g.179408710T>A	ENSP00000465570:p.Asp30413Val	Somatic	0	58	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	28	56.06	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D29486V	ENST00000591111.1	37	c.88457		2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306667	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.72	5.72	0.89469	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	0.68559	0.3014	N	0.16656	0.425	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	P;P;P;P	0.62298	0.9;0.9;0.9;0.9	T	0.74312	-0.3706	9	0.87932	D	0	.	15.9962	0.80250	0.0:0.0:0.0:1.0	.	22989;23114;23181;30413	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	29486;22989;23181;23114;22986	ENSP00000343764:D29486V;ENSP00000434586:D22989V;ENSP00000340554:D23181V;ENSP00000352154:D23114V	ENSP00000340554:D23181V	D	-	2	0	TTN	179116956	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.040000	0.89188	2.180000	0.69256	0.459000	0.35465	GAC	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179408710	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179408710	T	A	179408710	3	1	145	1	0	0	0	0	1	0	0	0	16742	1667	58	5	11886	5	TTN	2	179408710	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09	12270391	179408710	63790663	12	10749											
MARS2	92935	genome.wustl.edu	37	chr2	198570511	198570511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagcttttccaggagGccggtatctcctgcacagat	10	13	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:198570511G>T	ENST00000282276.6	+	1	425	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	128					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTTCCAGGAGGCCGGTATCTC	0.647																																																	0								ENSG00000247626						31	36	34					2																	198570511		2203	4300	6503	MARS2	SO:0001583	missense	0			-	HGNC	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.382G>T	2.37:g.198570511G>T	ENSP00000282276:p.Ala128Ser	Somatic	0	44	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP							pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.A128S	ENST00000282276.6	37	c.382	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581390	0.28180	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.351137	0.33712	N	0.004624	T	0.34890	0.0913	L	0.28649	0.875	0.36688	D	0.879421	B	0.34226	0.443	B	0.36378	0.223	T	0.45934	-0.9227	10	0.87932	D	0	-15.8838	13.1376	0.59417	0.0:0.1605:0.8395:0.0	.	128	Q96GW9	SYMM_HUMAN	S	128	ENSP00000282276:A128S	ENSP00000282276:A128S	A	+	1	0	MARS2	198278756	1.000000	0.71417	0.333000	0.25482	0.874000	0.50279	4.565000	0.60836	2.706000	0.92434	0.655000	0.94253	GCC	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth		0.647	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	protein_coding	OTTHUMT00000335477.1	G	NM_138395	-		198570511	1	no_errors	ENST00000282276	ensembl	human	known	74_37	missense	SNP	0.857	T	T	198570511	G	T	198570511	3	4	145	1	0	0	0	0	1	0	0	0	9319	1203	42	3	384	3	MARS2	2	198570511	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	19161801	198570511	44628862	13	10750											
CD200R1L	344807	genome.wustl.edu	37	chr3	112538711	112538711	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acataaagaatgatcagtaaGgacaacgctggagatcctga	10	7	1	4			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr3:112538711G>T	ENST00000398214.1	-	5	936	c.711C>A	c.(709-711)tcC>tcA	p.S237S	CD200R1L_ENST00000488794.1_Silent_p.S216S|CD200R1L_ENST00000448932.1_Silent_p.S216S	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	237						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGATCAGTAAGGACAACGCTG	0.383																																																	0								ENSG00000206531						91	87	88					3																	112538711		1852	4107	5959	CD200R1L	SO:0001819	synonymous_variant	0			-	HGNC	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.711C>A	3.37:g.112538711G>T		Somatic	0	30	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q6WHB7	Silent	SNP							pfam_CD80_C2-set,pfscan_Ig-like_dom	p.S237	ENST00000398214.1	37	c.711	CCDS43131.1	3																																																																																			-	NULL		0.383	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	protein_coding	OTTHUMT00000354365.1	G	NM_001008784	-		112538711	-1	no_errors	ENST00000398214	ensembl	human	known	74_37	silent	SNP	0.001	T	T	112538711	G	T	112538711	2	4	145	1	0	0	0	0	0	0	0	1	2984	987	35	3		3	CD200R1L	3	112538711	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		112538711	85483719	14	10751											
TAPT1	202018	genome.wustl.edu	37	chr4	16165055	16165055	+	Frame_Shift_Del	DEL	A	A	-													cgtcaccatctggagttgtcAaaaactgatcagaattgctt							TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr4:16165055delA	ENST00000405303.2	-	14	1663	c.1580delT	c.(1579-1581)ttgfs	p.L527fs	TAPT1_ENST00000399920.3_Frame_Shift_Del_p.L416fs|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	527					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TGGAGTTGTCAAAAACTGATC	0.383																																																	0								ENSG00000169762						178	171	173					4																	16165055		1898	4129	6027	TAPT1	SO:0001589	frameshift_variant	0				HGNC	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1580delT	4.37:g.16165055delA	ENSP00000385347:p.Leu527fs	Somatic	0	42	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	66	9.59	Q8N2S3|Q9NZK9	Frame_Shift_Del	DEL							pfam_Membrane_Tatp1/CMV_rcpt	p.L527fs	ENST00000405303.2	37	c.1580	CCDS47030.1	4																																																																																			-	NULL		0.383	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	protein_coding	OTTHUMT00000359568.1	A	NM_153365			16165055	-1	no_errors	ENST00000405303	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	16165055	A	-	16165055	7	5	145	1	0	1	0	1	0	0	0	0	15561	131	5	0	127	0	TAPT1	4	16165055	Frame_Shift_Del	DEL	A	TCGA-HB-A3YV-01A-11D-A24N-09		16165055	174989221	15	10752											
HELT	391723	genome.wustl.edu	37	chr4	185940855	185940855	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgccacagtgcccgaCcagcaggcgctgggccgctg	14	17	0	0	rs568316271		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr4:185940855C>A	ENST00000515777.1	+	3	220				HELT_ENST00000505610.1_Intron|HELT_ENST00000338875.4_Missense_Mutation_p.D114E			A6NFD8	HELT_HUMAN	helt bHLH transcription factor						central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGTGCCCGACCAGCAGGCGC	0.687																																																	0								ENSG00000187821																																			HELT	SO:0001627	intron_variant	0			-	HGNC	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"Basic helix-loop-helix proteins"	33783	protein-coding gene	gene with protein product	"megane bHLH factor", "HES-like"		"Hey-like transcription factor (zebrafish)", "HES/HEY-like transcription factor"			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.133-46C>A	4.37:g.185940855C>A		Somatic	0	14	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP							pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom	p.D114E	ENST00000515777.1	37	c.342		4	.	.	.	.	.	.	.	.	.	.	C	7.590	0.670524	0.14776	.	.	ENSG00000187821	ENST00000338875	T	0.22134	1.97	4.36	2.56	0.30785	Helix-loop-helix DNA-binding (4);	.	.	.	.	T	0.09730	0.0239	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.02654	T	1	.	5.0718	0.14611	0.2145:0.6763:0.0:0.1092	.	114	A6NFD8	HELT_HUMAN	E	114	ENSP00000343464:D114E	ENSP00000343464:D114E	D	+	3	2	HELT	186177849	.	.	0.003000	0.11579	0.022000	0.10575	.	.	0.546000	0.28920	0.561000	0.74099	GAC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.687	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	HELT	protein_coding	OTTHUMT00000360792.1	C	NM_001300781	-		185940855	1	no_errors	ENST00000338875	ensembl	human	known	74_37	missense	SNP	0.003	A	A	185940855	C	A	185940855	1	1	145	0	1	0	0	0	0	0	0	0	7050	506	18	3		3	HELT	4	185940855	Intron	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	169775800	185940855	5213421	16	10753											
CMYA5	202333	genome.wustl.edu	37	chr5	79031324	79031324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtaaaacttaaaactGctgatgaacccagaggtact	9	8	0	4			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:79031324G>T	ENST00000446378.2	+	2	6767	c.6736G>T	c.(6736-6738)Gct>Tct	p.A2246S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2246					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)		ACTTAAAACTGCTGATGAACC	0.358																																																	0								ENSG00000164309						92	93	93					5																	79031324		1815	4083	5898	CMYA5	SO:0001583	missense	0			-	HGNC	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.6736G>T	5.37:g.79031324G>T	ENSP00000394770:p.Ala2246Ser	Somatic	0	40	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A2246S	ENST00000446378.2	37	c.6736	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	6.826	0.521549	0.13005	.	.	ENSG00000164309	ENST00000446378	T	0.21543	2.0	5.94	3.23	0.37069	.	0.409534	0.21313	N	0.076602	T	0.20495	0.0493	M	0.65975	2.015	0.09310	N	1	P	0.42456	0.78	B	0.38106	0.265	T	0.09707	-1.0662	10	0.32370	T	0.25	.	8.1965	0.31400	0.2452:0.0:0.7548:0.0	.	2246	Q8N3K9	CMYA5_HUMAN	S	2246	ENSP00000394770:A2246S	ENSP00000394770:A2246S	A	+	1	0	CMYA5	79067080	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	0.672000	0.25187	0.429000	0.26202	-0.157000	0.13467	GCT	-	NULL		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	G	NM_153610	-		79031324	1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	SNP	0.001	T	T	79031324	G	T	79031324	3	4	145	1	0	0	0	0	1	0	0	0	3592	1319	46	3	6742	3	CMYA5	5	79031324	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		79031324	101883936	17	10754											
CSNK1G3	1456	genome.wustl.edu	37	chr5	122881404	122881404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaatcagatgatagaatggCacgacctagtggtcgatcgg	12	8	1	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:122881404C>G	ENST00000361991.2	+	1	77	c.47C>G	c.(46-48)gCa>gGa	p.A16G	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.A16G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.A16G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.A16G|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.A16G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.A16G|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.A16G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	16					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GATAGAATGGCACGACCTAGT	0.393																																					Pancreas(187;2868 2964 4353 6297)												0								ENSG00000151292						129	110	116					5																	122881404		2203	4300	6503	CSNK1G3	SO:0001583	missense	0			-	HGNC	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.47C>G	5.37:g.122881404C>G	ENSP00000354942:p.Ala16Gly	Somatic	0	52	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	64	20.00	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A16G	ENST00000361991.2	37	c.47	CCDS4135.1	5	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624630	0.46840	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T	0.51574	0.71;0.7;0.72;0.72;0.7;0.7;0.71	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.43299	0.1241	L	0.38531	1.155	0.38316	D	0.943381	B;B;B;P	0.35700	0.129;0.364;0.002;0.516	B;B;B;B	0.38985	0.071;0.287;0.005;0.287	T	0.29458	-1.0011	10	0.18710	T	0.47	.	19.2408	0.93881	0.0:1.0:0.0:0.0	.	16;16;16;16	A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;KC1G3_HUMAN;.	G	16	ENSP00000378807:A16G;ENSP00000378806:A16G;ENSP00000334735:A16G;ENSP00000429412:A16G;ENSP00000423838:A16G;ENSP00000354942:A16G;ENSP00000353904:A16G	ENSP00000334735:A16G	A	+	2	0	CSNK1G3	122909303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.809000	0.75211	2.805000	0.96524	0.655000	0.94253	GCA	-	NULL		0.393	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSNK1G3	protein_coding	OTTHUMT00000250900.1	C	NM_004384	-		122881404	1	no_errors	ENST00000360683	ensembl	human	known	74_37	missense	SNP	1.000	G	G	122881404	C	G	122881404	3	3	145	1	0	0	0	0	1	0	0	0	3958	710	25	4	49	4	CSNK1G3	5	122881404	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	43850080	122881404	58033856	18	10755											
RANBP17	64901	genome.wustl.edu	37	chr5	170336734	170336734	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgtgatacttctctcaaaGacgttttagtgctagcatgc	8	9	2	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:170336734G>A	ENST00000523189.1	+	6	723	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	187					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTCTCAAAGACGTTTTAGT	0.308			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0								ENSG00000204764						79	77	77					5																	170336734		2202	4293	6495	RANBP17	SO:0001583	missense	0			-	HGNC	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.559G>A	5.37:g.170336734G>A	ENSP00000427975:p.Asp187Asn	Somatic	0	61	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	Q8IU74	Missense_Mutation	SNP							pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.D187N	ENST00000523189.1	37	c.559	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	g	21.7	4.187853	0.78789	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.41065	1.01	5.36	5.36	0.76844	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.60818	0.2298	L	0.60455	1.87	0.49051	D	0.999749	P;D	0.63880	0.864;0.993	B;D	0.74674	0.259;0.984	T	0.56117	-0.8032	10	0.37606	T	0.19	-16.6411	17.2295	0.86981	0.0:0.0:1.0:0.0	.	187;237	Q9H2T7;B4DQG2	RBP17_HUMAN;.	N	187;83	ENSP00000427975:D187N	ENSP00000373770:D187N	D	+	1	0	RANBP17	170269312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.271000	0.89883	2.676000	0.91093	0.655000	0.94253	GAC	-	superfamily_ARM-type_fold		0.308	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	protein_coding	OTTHUMT00000372036.1	G	NM_022897	-		170336734	1	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	SNP	1.000	A	A	170336734	G	A	170336734	3	1	145	1	0	0	0	0	1	0	0	0	13035	942	33	2	581	2	RANBP17	5	170336734	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	47455330	170336734	10578526	19	10756											
MAPK9	5601	genome.wustl.edu	37	chr5	179674413	179674413	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcattaagaaagcatggcGgggccaaggtcgcggggaag	18	7	0	1	rs200094588		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:179674413G>A	ENST00000452135.2	-	7	987				MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000425491.2_Silent_p.P238P|MAPK9_ENST00000343111.6_Intron			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						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)			AAAGCATGGCGGGGCCAAGGT	0.532													G|||	1	0.000199681	0	0	5008	,	,		16342	0.001		0	False		,,,				2504	0																0								ENSG00000050748						79	69	72					5																	179674413		2203	4300	6503	MAPK9	SO:0001627	intron_variant	0			GMAF=0.0005	HGNC	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.688+25C>T	5.37:g.179674413G>A		Somatic	0	59	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	44	42.86	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK	p.P238	ENST00000452135.2	37	c.714	CCDS4453.1	5																																																																																			-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	protein_coding	OTTHUMT00000253530.3	G		rs200094588		179674413	-1	no_errors	ENST00000425491	ensembl	human	known	74_37	silent	SNP	0.944	A	A	179674413	G	A	179674413	1	1	145	0	1	0	0	0	0	0	0	0	9289	1103	39	1		1	MAPK9	5	179674413	Intron	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	9337679	179674413	1240847	20	10757											
MMD2	221938	genome.wustl.edu	37	chr7	4959908	4959908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatggtctcccagtcatCgtccgacaggaagtagaggt	13	9	2	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:4959908C>T	ENST00000404774.3	-	3	378	c.184G>A	c.(184-186)Gat>Aat	p.D62N	MMD2_ENST00000401401.3_Missense_Mutation_p.D62N|MMD2_ENST00000406755.1_Missense_Mutation_p.D62N	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	62						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCCCAGTCATCGTCCGACAGG	0.612																																																	0								ENSG00000136297						52	59	57					7																	4959908		2116	4229	6345	MMD2	SO:0001583	missense	0			-	HGNC	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.184G>A	7.37:g.4959908C>T	ENSP00000384690:p.Asp62Asn	Somatic	0	53	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	60	14.08	B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP							pfam_HlyIII-related	p.D62N	ENST00000404774.3	37	c.184	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671418	0.29693	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.30448	1.53;1.53;1.53	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.45228	1.405	0.58432	D	0.999995	P;P;B	0.49447	0.867;0.924;0.046	B;B;B	0.42738	0.395;0.396;0.017	T	0.06716	-1.0811	10	0.38643	T	0.18	-31.3807	16.2468	0.82449	0.0:1.0:0.0:0.0	.	62;62;62	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	N	62	ENSP00000384690:D62N;ENSP00000385963:D62N;ENSP00000384141:D62N	ENSP00000384141:D62N	D	-	1	0	MMD2	4926434	0.965000	0.33210	0.245000	0.24217	0.225000	0.24961	2.284000	0.43478	2.289000	0.77006	0.561000	0.74099	GAT	-	pfam_HlyIII-related		0.612	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	protein_coding	OTTHUMT00000324136.1	C	NM_198403	-		4959908	-1	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	SNP	0.991	T	T	4959908	C	T	4959908	3	4	145	1	0	0	0	0	1	0	0	0	9646	884	31	1	648	1	MMD2	7	4959908	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09		4959908	154178755	21	10758											
ABCB5	340273	genome.wustl.edu	37	chr7	20725334	20725334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaaggatattaaaaaagctGatgaacagatggagtcaatg	11	3	1	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:20725334G>A	ENST00000404938.2	+	16	2537	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D184N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	629					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TAAAAAAGCTGATGAACAGAT	0.343																																																	0								ENSG00000004846						70	67	68					7																	20725334		2203	4300	6503	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1885G>A	7.37:g.20725334G>A	ENSP00000384881:p.Asp629Asn	Somatic	0	47	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D184N	ENST00000404938.2	37	c.550	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786245	0.16189	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.82167	-1.58;-1.58	4.13	4.13	0.48395	.	0.535497	0.16485	N	0.212354	T	0.73869	0.3642	L	0.33093	0.98	0.37999	D	0.934173	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.69815	-0.5043	10	0.28530	T	0.3	.	12.2043	0.54342	0.0:0.0:1.0:0.0	.	629;184	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	N	629;184	ENSP00000384881:D629N;ENSP00000258738:D184N	ENSP00000258738:D184N	D	+	1	0	ABCB5	20691859	0.998000	0.40836	0.972000	0.41901	0.064000	0.16182	3.763000	0.55257	2.578000	0.87016	0.609000	0.83330	GAT	-	NULL		0.343	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	G	NM_178559	-		20725334	1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	0.981	A	A	20725334	G	A	20725334	3	1	145	1	0	0	0	0	1	0	0	0	44	1290	45	2	1984	2	ABCB5	7	20725334	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	15765426	20725334	138413329	22	10759											
ABCB1	5243	genome.wustl.edu	37	chr7	87175278	87175278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaaaccagcgatgacGtcagcattacgaactgtaga	9	10	2	2	rs201194764		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:87175278G>A	ENST00000265724.3	-	16	2205	c.1788C>T	c.(1786-1788)gaC>gaT	p.D596D	ABCB1_ENST00000543898.1_Silent_p.D532D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	596	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAGCGATGACGTCAGCATTAC	0.403																																																	0								ENSG00000085563	G		0,4406		0,0,2203	151	132	139		1788	0.3	1	7		139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCB1	NM_000927.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		596/1281	87175278	2,13004	2203	4300	6503	ABCB1	SO:0001819	synonymous_variant	0			-	HGNC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1788C>T	7.37:g.87175278G>A		Somatic	0	21	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	A8K294|B5AK60|Q12755|Q14812	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D596	ENST00000265724.3	37	c.1788	CCDS5608.1	7																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	protein_coding	OTTHUMT00000335444.2	G	NM_000927	rs201194764		87175278	-1	no_errors	ENST00000265724	ensembl	human	known	74_37	silent	SNP	0.998	A	A	87175278	G	A	87175278	2	1	145	1	0	0	0	0	0	0	0	1	40	1136	40	1		1	ABCB1	7	87175278	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	66449944	87175278	71963385	23	10760											
LAMB4	22798	genome.wustl.edu	37	chr7	107732113	107732113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtggcttcctctgcctcGtagagatagaaattcaaagg	11	8	2	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:107732113G>A	ENST00000388781.3	-	14	1742	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	LAMB4_ENST00000418464.1_Silent_p.Y553Y|LAMB4_ENST00000414450.2_Silent_p.Y553Y|LAMB4_ENST00000205386.4_Silent_p.Y553Y|LAMB4_ENST00000388780.3_Silent_p.Y553Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	553	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTCTGCCTCGTAGAGATAGA	0.488																																																	0								ENSG00000091128						93	89	90					7																	107732113		2203	4300	6503	LAMB4	SO:0001819	synonymous_variant	0			-	HGNC	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1659C>T	7.37:g.107732113G>A		Somatic	0	39	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Y553	ENST00000388781.3	37	c.1659	CCDS34732.1	7																																																																																			-	smart_EGF_laminin,pfscan_Laminin_IV		0.488	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	protein_coding	OTTHUMT00000337442.1	G	XM_209857	-		107732113	-1	no_errors	ENST00000205386	ensembl	human	known	74_37	silent	SNP	0.796	A	A	107732113	G	A	107732113	2	1	145	1	0	0	0	0	0	0	0	1	8615	1140	40	1		1	LAMB4	7	107732113	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	20556835	107732113	51406550	24	10761											
CTTNBP2	83992	genome.wustl.edu	37	chr7	117364695	117364695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctttctccaggcaccactCtctcctttcttcttgttaca	3	16	4	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:117364695C>G	ENST00000160373.3	-	19	4444	c.4353G>C	c.(4351-4353)gaG>gaC	p.E1451D		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1451					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGGCACCACTCTCTCCTTTCT	0.458																																																	0								ENSG00000077063						123	104	110					7																	117364695		2203	4300	6503	CTTNBP2	SO:0001583	missense	0			-	HGNC		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4353G>C	7.37:g.117364695C>G	ENSP00000160373:p.Glu1451Asp	Somatic	0	33	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	31	41.51	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP							pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1451D	ENST00000160373.3	37	c.4353	CCDS5774.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.041|9.041	0.989754|0.989754	0.18966|0.18966	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|T	0.64438|0.68479	-0.1|-0.33	5.24|5.24	0.0279|0.0279	0.14156|0.14156	.|.	0.341470|0.341470	0.35525|0.35525	N|N	0.003152|0.003152	T|T	0.67748|0.67748	0.2926|0.2926	M|M	0.73962|0.73962	2.25|2.25	0.26204|0.26204	N|N	0.979407|0.979407	B|.	0.13594|.	0.008|.	B|.	0.16289|.	0.015|.	T|T	0.62238|0.62238	-0.6896|-0.6896	10|8	0.22706|0.72032	T|D	0.39|0.01	-3.6213|-3.6213	5.9488|5.9488	0.19234|0.19234	0.119:0.4648:0.0:0.4162|0.119:0.4648:0.0:0.4162	.|.	1451|.	Q8WZ74|.	CTTB2_HUMAN|.	D|Q	1451|939	ENSP00000160373:E1451D|ENSP00000389576:E939Q	ENSP00000160373:E1451D|ENSP00000389576:E939Q	E|E	-|-	3|1	2|0	CTTNBP2|CTTNBP2	117151931|117151931	0.010000|0.010000	0.17322|0.17322	0.993000|0.993000	0.49108|0.49108	0.638000|0.638000	0.38207|0.38207	-0.774000|-0.774000	0.04684|0.04684	0.058000|0.058000	0.16222|0.16222	-0.748000|-0.748000	0.03510|0.03510	GAG|GAG	-	NULL		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	protein_coding	OTTHUMT00000059201.4	C	NM_033427	-		117364695	-1	no_errors	ENST00000160373	ensembl	human	known	74_37	missense	SNP	0.743	G	G	117364695	C	G	117364695	3	3	145	1	0	0	0	0	1	0	0	0	4047	912	32	4	658	4	CTTNBP2	7	117364695	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	9632582	117364695	41773968	25	10762											
INTS10	55174	genome.wustl.edu	37	chr8	19677110	19677110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcccagaccagccggTggtgtggagagaaatcagca	13	9	1	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:19677110T>C	ENST00000397977.3	+	3	622	c.224T>C	c.(223-225)gTg>gCg	p.V75A	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	75					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GACCAGCCGGTGGTGTGGAGA	0.313																																																	0								ENSG00000104613						86	74	78					8																	19677110		1805	4076	5881	INTS10	SO:0001583	missense	0			-	HGNC	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.224T>C	8.37:g.19677110T>C	ENSP00000381064:p.Val75Ala	Somatic	0	40	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP							NULL	p.V75A	ENST00000397977.3	37	c.224	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	T	12.61	1.989788	0.35131	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.93	5.93	0.95920	.	0.168563	0.37955	U	0.001873	T	0.47210	0.1433	L	0.44542	1.39	0.42300	D	0.992176	B	0.02656	0.0	B	0.08055	0.003	T	0.41052	-0.9530	9	0.23302	T	0.38	-22.3069	10.3682	0.44038	0.0:0.0766:0.0:0.9234	.	75	Q9NVR2	INT10_HUMAN	A	75	.	ENSP00000381064:V75A	V	+	2	0	INTS10	19721390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.263000	0.75096	0.533000	0.62120	GTG	-	NULL		0.313	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	protein_coding	OTTHUMT00000253724.2	T	NM_018142	-		19677110	1	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19677110	T	C	19677110	3	2	145	1	0	0	0	0	1	0	0	0	7778	1696	59	5	234	5	INTS10	8	19677110	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09		19677110	126686912	26	10763											
PRKDC	5591	genome.wustl.edu	37	chr8	48845610	48845610	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagtctgtatttcaagTgtaagatccaatttctcaac	5	10	3	1	rs372701188		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:48845610T>G	ENST00000314191.2	-	16	1802	c.1746A>C	c.(1744-1746)acA>acC	p.T582T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.T582T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	582					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTATTTCAAGTGTAAGATCCA	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						38	35	36					8																	48845610		1802	4047	5849	PRKDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1746A>C	8.37:g.48845610T>G		Somatic	0	36	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T582	ENST00000314191.2	37	c.1746		8																																																																																			-	superfamily_ARM-type_fold		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		T	NM_001081640	-		48845610	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	SNP	0.723	G	G	48845610	T	G	48845610	2	3	145	1	0	0	0	0	0	0	0	1	12526	1683	59	5		5	PRKDC	8	48845610	Silent	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09	29168500	48845610	97518412	27	10764											
CPA6	57094	genome.wustl.edu	37	chr8	68423882	68423882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttctgaagatcttctAtgaggaccctgaatttggaa	10	6	3	4	rs151119622	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:68423882A>G	ENST00000297770.4	-	4	541	c.326T>C	c.(325-327)aTa>aCa	p.I109T	CPA6_ENST00000518549.1_Missense_Mutation_p.I109T|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	109						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I109T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAGATCTTCTATGAGGACCCT	0.378													A|||	3	0.000599042	0.0023	0	5008	,	,		18228	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						ENSG00000165078	A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	144	147	146		326	5.5	1	8	dbSNP_134	146	0,8600		0,0,4300	no	missense	CPA6	NM_020361.4	89	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	109/438	68423882	2,13004	2203	4300	6503	CPA6	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.326T>C	8.37:g.68423882A>G	ENSP00000297770:p.Ile109Thr	Somatic	0	21	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	11	57.69	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.I109T	ENST00000297770.4	37	c.326	CCDS6200.1	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	19.31	3.802293	0.70682	4.54E-4	0.0	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.22336	1.96;1.96	5.46	5.46	0.80206	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.76170	2.325	0.80722	D	1	D;D	0.57899	0.981;0.963	P;P	0.60286	0.872;0.87	T	0.44329	-0.9335	10	0.72032	D	0.01	.	15.1902	0.73038	1.0:0.0:0.0:0.0	.	109;109	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	T	109	ENSP00000297770:I109T;ENSP00000431112:I109T	ENSP00000297770:I109T	I	-	2	0	CPA6	68586436	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.685000	0.68204	2.074000	0.62210	0.528000	0.53228	ATA	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.378	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	protein_coding	OTTHUMT00000379296.2	A	NM_020361	rs151119622		68423882	-1	no_errors	ENST00000297770	ensembl	human	known	74_37	missense	SNP	1.000	G	G	68423882	A	G	68423882	3	3	145	1	0	0	0	0	1	0	0	0	3796	449	16	5	1019	5	CPA6	8	68423882	Missense_Mutation	SNP	A	TCGA-HB-A3YV-01A-11D-A24N-09	19578272	68423882	77940140	28	10765											
CSMD3	114788	genome.wustl.edu	37	chr8	113668387	113668387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcattacttactttcAtaatgaatcttgaaaccatt	2	7	3	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:113668387A>G	ENST00000297405.5	-	18	3244	c.3000T>C	c.(2998-3000)taT>taC	p.Y1000Y	CSMD3_ENST00000343508.3_Silent_p.Y960Y|CSMD3_ENST00000455883.2_Silent_p.Y896Y|CSMD3_ENST00000352409.3_Silent_p.Y1000Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1000	CUB 5. {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						ACTTACTTTCATAATGAATCT	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						53	59	57					8																	113668387		2203	4300	6503	CSMD3	SO:0001819	synonymous_variant	0			-	HGNC	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.3000T>C	8.37:g.113668387A>G		Somatic	0	30	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	Q96PZ3	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Y1000	ENST00000297405.5	37	c.3000	CCDS6315.1	8																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	A	NM_052900	-		113668387	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	SNP	1.000	G	G	113668387	A	G	113668387	2	3	145	1	0	0	0	0	0	0	0	1	3948	224	8	5		5	CSMD3	8	113668387	Silent	SNP	A	TCGA-HB-A3YV-01A-11D-A24N-09	45244505	113668387	32695635	29	10766											
PPP1R16A	84988	genome.wustl.edu	37	chr8	145724311	145724311	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttgcagtgctgcattgatGatttccgagagatggtgcag	14	6	0	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:145724311G>T	ENST00000292539.4	+	4	1260	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.D115Y|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	115						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCATTGATGATTTCCGAGA	0.652																																																	0								ENSG00000160972						67	55	59					8																	145724311		2203	4300	6503	PPP1R16A	SO:0001583	missense	0			-	HGNC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.343G>T	8.37:g.145724311G>T	ENSP00000292539:p.Asp115Tyr	Somatic	0	44	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	D3DWM5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D115Y	ENST00000292539.4	37	c.343	CCDS6429.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005104|4.005104	0.74932|0.74932	.|.	.|.	ENSG00000160972|ENSG00000255182	ENST00000292539;ENST00000435887|ENST00000527086	T;T|.	0.54866|.	0.55;0.55|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Ankyrin repeat-containing domain (4);|.	0.054658|.	0.64402|.	D|.	0.000001|.	T|.	0.76097|.	0.3940|.	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|.	0.77613|.	-0.2522|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.7821|15.7821	0.78269|0.78269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	115|.	Q96I34|.	PP16A_HUMAN|.	Y|X	115|43	ENSP00000292539:D115Y;ENSP00000391126:D115Y|.	ENSP00000292539:D115Y|.	D|S	+|-	1|2	0|0	PPP1R16A|CTD-2517M22.14	145695119|145695119	0.810000|0.810000	0.29049|0.29049	0.949000|0.949000	0.38748|0.38748	0.746000|0.746000	0.42486|0.42486	1.897000|1.897000	0.39799|0.39799	2.316000|2.316000	0.78162|0.78162	0.462000|0.462000	0.41574|0.41574	GAT|TCA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	protein_coding	OTTHUMT00000382459.1	G	NM_032902	-		145724311	1	no_errors	ENST00000292539	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145724311	G	T	145724311	3	4	145	1	0	0	0	0	1	0	0	0	12370	1290	45	3	353	3	PPP1R16A	8	145724311	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	32055924	145724311	639711	30	10767											
TUB	7275	genome.wustl.edu	37	chr11	8119343	8119343	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggacccaacagacttgtctcGaggaggggacagctatatcg	13	10	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:8119343G>C	ENST00000299506.2	+	8	1117	c.968G>C	c.(967-969)cGa>cCa	p.R323P	TUB_ENST00000534099.1_Missense_Mutation_p.R329P|TUB_ENST00000305253.4_Missense_Mutation_p.R378P	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	323					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GACTTGTCTCGAGGAGGGGAC	0.562																																																	0								ENSG00000166402						133	137	135					11																	8119343		2201	4296	6497	TUB	SO:0001583	missense	0			-	HGNC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.968G>C	11.37:g.8119343G>C	ENSP00000299506:p.Arg323Pro	Somatic	0	43	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.R378P	ENST00000299506.2	37	c.1133	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804500	0.90623	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97642	-4.47;-4.47;-4.47	4.7	4.7	0.59300	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99683	1.0999	10	0.66056	D	0.02	-0.5362	17.9944	0.89178	0.0:0.0:1.0:0.0	.	329;323;378	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	P	329;378;323	ENSP00000434400:R329P;ENSP00000305426:R378P;ENSP00000299506:R323P	ENSP00000299506:R323P	R	+	2	0	TUB	8075919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.327000	0.79052	0.585000	0.79938	CGA	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C		0.562	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	protein_coding	OTTHUMT00000385823.1	G	NM_003320	-		8119343	1	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	SNP	1.000	C	C	8119343	G	C	8119343	3	2	145	1	0	0	0	0	1	0	0	0	16749	1058	37	4	1209	4	TUB	11	8119343	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		8119343	126887173	31	10768											
GAS2	2620	genome.wustl.edu	37	chr11	22770671	22770671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtctttttaaaggtatgGtgtggagcctcctggtttga	14	5	1	1	rs371812344		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:22770671G>T	ENST00000454584.2	+	6	784	c.479G>T	c.(478-480)gGt>gTt	p.G160V	GAS2_ENST00000433790.1_Missense_Mutation_p.G160V|GAS2_ENST00000278187.3_Missense_Mutation_p.G160V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	160					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAAAGGTATGGTGTGGAGCCT	0.378																																																	0								ENSG00000148935						75	79	78					11																	22770671		2203	4299	6502	GAS2	SO:0001583	missense	0			-	HGNC	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.479G>T	11.37:g.22770671G>T	ENSP00000401145:p.Gly160Val	Somatic	0	47	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP							pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.G160V	ENST00000454584.2	37	c.479	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205167	0.79127	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.86	5.86	0.93980	Calponin homology domain (2);	0.097222	0.64402	D	0.000001	T	0.65004	0.2650	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.63804	-0.6554	10	0.72032	D	0.01	-12.962	20.5632	0.99335	0.0:0.0:1.0:0.0	.	160	O43903	GAS2_HUMAN	V	160	ENSP00000432584:G160V;ENSP00000401145:G160V;ENSP00000278187:G160V;ENSP00000435946:G160V;ENSP00000396708:G160V	ENSP00000278187:G160V	G	+	2	0	GAS2	22727247	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.074000	0.76791	2.937000	0.99478	0.650000	0.86243	GGT	-	superfamily_CH-domain		0.378	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	protein_coding	OTTHUMT00000387717.1	G	NM_177553	-		22770671	1	no_errors	ENST00000278187	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22770671	G	T	22770671	3	4	145	1	0	0	0	0	1	0	0	0	6247	1261	44	3	497	3	GAS2	11	22770671	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	14651328	22770671	112235845	32	10769											
ZNHIT2	741	genome.wustl.edu	37	chr11	64884315	64884315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgctcgcctgcttccaGcacgtgggctgccgcctgca	14	16	0	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:64884315G>A	ENST00000310597.4	-	1	855	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	271							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGCTTCCAGCACGTGGGCT	0.692																																																	0								ENSG00000174276						10	13	12					11																	64884315		2189	4274	6463	ZNHIT2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.811C>T	11.37:g.64884315G>A		Somatic	0	28	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q3SY14|Q8IUV0	Silent	SNP							pfam_Znf_HIT,pfscan_Znf_HIT	p.L271	ENST00000310597.4	37	c.811	CCDS8094.1	11																																																																																			-	NULL		0.692	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT2	protein_coding	OTTHUMT00000385260.1	G	NM_014205	-		64884315	-1	no_errors	ENST00000310597	ensembl	human	known	74_37	silent	SNP	1.000	A	A	64884315	G	A	64884315	2	1	145	1	0	0	0	0	0	0	0	1	18214	962	34	2		2	ZNHIT2	11	64884315	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	42113644	64884315	70122201	33	10770											
GDPD5	81544	genome.wustl.edu	37	chr11	75152708	75152708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgagctcctggcgggaCacctgagtgtagcgcaggtt	14	12	0	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:75152708C>T	ENST00000336898.3	-	13	2145	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	GDPD5_ENST00000529721.1_Silent_p.V436V|GDPD5_ENST00000376282.3_Silent_p.V317V|GDPD5_ENST00000533805.1_Silent_p.V191V|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000526177.1_Silent_p.V298V|GDPD5_ENST00000533784.1_Silent_p.V317V	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	436	GP-PDE.				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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCTGGCGGGACACCTGAGTGT	0.662																																																	0								ENSG00000158555						25	23	24					11																	75152708		2198	4291	6489	GDPD5	SO:0001819	synonymous_variant	0			-	HGNC	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.1308G>A	11.37:g.75152708C>T		Somatic	0	91	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	107	12.30	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP							pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.V436	ENST00000336898.3	37	c.1308	CCDS8238.1	11																																																																																			-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.662	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	protein_coding	OTTHUMT00000384409.1	C	NM_030792	-		75152708	-1	no_errors	ENST00000336898	ensembl	human	known	74_37	silent	SNP	1.000	T	T	75152708	C	T	75152708	2	4	145	1	0	0	0	0	0	0	0	1	6329	465	17	2		2	GDPD5	11	75152708	Silent	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	10268393	75152708	59853808	34	10771											
MAML2	84441	genome.wustl.edu	37	chr11	95718699	95718699	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaagaacacttaccagaAtactgagcagttggttgcat	8	7	0	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:95718699A>G	ENST00000524717.1	-	4	3735	c.2451T>C	c.(2449-2451)taT>taC	p.Y817Y		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	817					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ACTTACCAGAATACTGAGCAG	0.323			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0								ENSG00000184384						124	104	110					11																	95718699		1808	4069	5877	MAML2	SO:0001819	synonymous_variant	0			-	HGNC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2451T>C	11.37:g.95718699A>G		Somatic	0	68	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP							pfam_Neuroggenic_mastermind-like_N	p.Y817	ENST00000524717.1	37	c.2451	CCDS44714.1	11																																																																																			-	NULL		0.323	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	A		-		95718699	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	SNP	1.000	G	G	95718699	A	G	95718699	2	3	145	1	0	0	0	0	0	0	0	1	9208	108	4	5		5	MAML2	11	95718699	Silent	SNP	A	TCGA-HB-A3YV-01A-11D-A24N-09	20565991	95718699	39287817	35	10772											
BACE1	23621	genome.wustl.edu	37	chr11	117165988	117165988	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgcttaccaggtcggtGcccagctccccttcccactt	10	16	0	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:117165988G>T	ENST00000313005.6	-	3	886	c.426C>A	c.(424-426)ggC>ggA	p.G142G	BACE1_ENST00000510630.1_Silent_p.G42G|BACE1_ENST00000428381.2_Silent_p.G142G|BACE1_ENST00000392937.6_Silent_p.G42G|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000528053.1_Silent_p.G142G|BACE1_ENST00000513780.1_Silent_p.G142G|BACE1_ENST00000445823.2_Silent_p.G142G	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	142					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;0.000563)|all cancers(92;0.0032)		CCAGGTCGGTGCCCAGCTCCC	0.572																																																	0								ENSG00000186318						159	123	135					11																	117165988		2201	4296	6497	BACE1	SO:0001819	synonymous_variant	0			-	HGNC	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.426C>A	11.37:g.117165988G>T		Somatic	0	54	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP							pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase	p.G142	ENST00000313005.6	37	c.426	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441468	0.25900	.	.	ENSG00000186318	ENST00000530844;ENST00000504995	.	.	.	5.83	4.92	0.64577	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69506	-0.5127	4	.	.	.	.	14.049	0.64725	0.072:0.0:0.928:0.0	.	.	.	.	N	56;72	.	.	H	-	1	0	BACE1	116671198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.646000	0.37249	1.475000	0.48197	0.655000	0.94253	CAC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.572	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	protein_coding	OTTHUMT00000361505.1	G		-		117165988	-1	no_errors	ENST00000313005	ensembl	human	known	74_37	silent	SNP	1.000	T	T	117165988	G	T	117165988	2	4	145	1	0	0	0	0	0	0	0	1	1281	1306	46	3		3	BACE1	11	117165988	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	21447289	117165988	17840528	36	10773											
ARID2	196528	genome.wustl.edu	37	chr12	46244344	46244344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacataccagcatgtacttCtacagtttcacagggtcaac	7	11	3	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:46244344C>T	ENST00000334344.6	+	15	2610	c.2438C>T	c.(2437-2439)tCt>tTt	p.S813F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S423F|ARID2_ENST00000422737.1_Missense_Mutation_p.S664F|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	813	Gln-rich.				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.S813fs*9(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)		GCATGTACTTCTACAGTTTCA	0.458			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Deletion - Frameshift(1)	liver(1)						ENSG00000189079						129	108	115					12																	46244344		2203	4300	6503	ARID2	SO:0001583	missense	0			-	HGNC		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.2438C>T	12.37:g.46244344C>T	ENSP00000335044:p.Ser813Phe	Somatic	0	39	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP							pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S813F	ENST00000334344.6	37	c.2438	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780618	0.70222	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.34275	1.37	5.83	5.83	0.93111	.	0.268590	0.44483	D	0.000449	T	0.39279	0.1072	L	0.27053	0.805	0.80722	D	1	P;P;P	0.42123	0.693;0.693;0.771	B;P;B	0.46975	0.405;0.533;0.424	T	0.14839	-1.0458	10	0.56958	D	0.05	-6.9591	20.1152	0.97926	0.0:1.0:0.0:0.0	.	813;423;813	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	F	813;664;423	ENSP00000335044:S813F	ENSP00000335044:S813F	S	+	2	0	ARID2	44530611	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.177000	0.58276	2.750000	0.94351	0.655000	0.94253	TCT	-	NULL		0.458	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	C	XM_350875	-		46244344	1	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46244344	C	T	46244344	3	4	145	1	0	0	0	0	1	0	0	0	915	913	32	2	2496	2	ARID2	12	46244344	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09		46244344	87607551	37	10774											
SP1	6667	genome.wustl.edu	37	chr12	53777058	53777058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacctccagcttcaggctGttccaaactctggtcccatc	7	15	2	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:53777058G>T	ENST00000327443.4	+	3	1425	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	SP1_ENST00000426431.2_Missense_Mutation_p.V436F	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	443	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|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)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCTTCAGGCTGTTCCAAACTC	0.557																																																	0								ENSG00000185591						111	118	116					12																	53777058		2203	4300	6503	SP1	SO:0001583	missense	0			-	HGNC	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1327G>T	12.37:g.53777058G>T	ENSP00000329357:p.Val443Phe	Somatic	0	37	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V443F	ENST00000327443.4	37	c.1327	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	10.40	1.341078	0.24339	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08634	3.1;3.07	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000180	T	0.04998	0.0134	L	0.29908	0.895	0.45354	D	0.998342	P	0.39480	0.675	B	0.26969	0.075	T	0.48456	-0.9034	10	0.12103	T	0.63	.	13.2563	0.60081	0.0:0.1608:0.8392:0.0	.	443	P08047	SP1_HUMAN	F	443;436	ENSP00000329357:V443F;ENSP00000404263:V436F	ENSP00000329357:V443F	V	+	1	0	SP1	52063325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.379000	0.52440	2.595000	0.87683	0.467000	0.42956	GTT	-	NULL		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	protein_coding	OTTHUMT00000407044.1	G		-		53777058	1	no_errors	ENST00000327443	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53777058	G	T	53777058	3	4	145	1	0	0	0	0	1	0	0	0	14967	1377	48	3	1337	3	SP1	12	53777058	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	7532714	53777058	80074837	38	10775											
OS9	10956	genome.wustl.edu	37	chr12	58111971	58111971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctgtggatgatgctGcagaagtccctcagagggaa	14	9	1	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58111971G>A	ENST00000315970.7	+	11	1218	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	OS9_ENST00000389142.5_Missense_Mutation_p.A393T|OS9_ENST00000257966.8_Missense_Mutation_p.A394T|OS9_ENST00000552285.1_Missense_Mutation_p.A393T|OS9_ENST00000435406.2_Missense_Mutation_p.A341T|OS9_ENST00000389146.6_Missense_Mutation_p.A393T|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.A361T|OS9_ENST00000439210.2_Missense_Mutation_p.A334T|OS9_ENST00000413095.2_Missense_Mutation_p.A187T	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	393					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGATGATGCTGCAGAAGTCCC	0.532																																																	0								ENSG00000135506						127	114	119					12																	58111971		2203	4300	6503	OS9	SO:0001583	missense	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1177G>A	12.37:g.58111971G>A	ENSP00000318165:p.Ala393Thr	Somatic	0	13	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	154	37.40	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.A393T	ENST00000315970.7	37	c.1177	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956284	0.34565	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.54	-6.58	0.01836	.	0.952854	0.08753	N	0.898891	T	0.08358	0.0208	N	0.04880	-0.145	0.09310	N	1	B;B;P;B;B;B;B;B	0.36086	0.024;0.0;0.536;0.003;0.051;0.002;0.0;0.001	B;B;B;B;B;B;B;B	0.38954	0.007;0.002;0.286;0.004;0.012;0.002;0.001;0.001	T	0.27806	-1.0063	10	0.11485	T	0.65	.	2.2715	0.04092	0.4773:0.0943:0.1538:0.2746	.	334;361;187;394;393;393;393;393	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	T	393;393;334;393;187;361;394;341;393	ENSP00000450010:A393T;ENSP00000318165:A393T;ENSP00000407360:A334T;ENSP00000373798:A393T;ENSP00000413112:A187T;ENSP00000447866:A361T;ENSP00000257966:A394T;ENSP00000389632:A341T;ENSP00000373794:A393T	ENSP00000257966:A394T	A	+	1	0	OS9	56398238	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.441000	0.06879	-0.928000	0.03761	-0.181000	0.13052	GCA	-	NULL		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58111971	1	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58111971	G	A	58111971	3	1	145	1	0	0	0	0	1	0	0	0	11274	1319	46	2	1219	2	OS9	12	58111971	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	4334913	58111971	75739924	39	10776			1	79		4	4	1982	G		9.392523e-09
OS9	10956	genome.wustl.edu	37	chr12	58111997	58111997	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtccctcagagggaaccagaGaaggaaaggggtgatccaga	15	8	1	4			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58111997G>A	ENST00000315970.7	+	11	1244	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	OS9_ENST00000389142.5_Silent_p.E401E|OS9_ENST00000257966.8_Silent_p.E402E|OS9_ENST00000552285.1_Silent_p.E401E|OS9_ENST00000435406.2_Silent_p.E349E|OS9_ENST00000389146.6_Silent_p.E401E|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Silent_p.E369E|OS9_ENST00000439210.2_Silent_p.E342E|OS9_ENST00000413095.2_Silent_p.E195E	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAACCAGAGAAGGAAAGGG	0.537																																																	0								ENSG00000135506						166	147	153					12																	58111997		2203	4300	6503	OS9	SO:0001819	synonymous_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1203G>A	12.37:g.58111997G>A		Somatic	0	15	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	173	37.32	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E401	ENST00000315970.7	37	c.1203	CCDS31843.1	12																																																																																			-	NULL		0.537	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58111997	1	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	SNP	0.006	A	A	58111997	G	A	58111997	2	1	145	1	0	0	0	0	0	0	0	1	11274	933	33	2		2	OS9	12	58111997	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	26	58111997	75739898	40	10777			1	79		4	4	1982	G		9.392523e-09
OS9	10956	genome.wustl.edu	37	chr12	58112779	58112779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctcttgggtattccagacaGagaaagagctggacccagat	11	9	1	4			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58112779G>A	ENST00000315970.7	+	12	1455	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	OS9_ENST00000389142.5_Missense_Mutation_p.E457K|OS9_ENST00000257966.8_Missense_Mutation_p.E473K|OS9_ENST00000552285.1_Missense_Mutation_p.E472K|OS9_ENST00000435406.2_Missense_Mutation_p.E420K|OS9_ENST00000389146.6_Missense_Mutation_p.E457K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.E440K|OS9_ENST00000439210.2_Missense_Mutation_p.E398K|OS9_ENST00000413095.2_Missense_Mutation_p.E266K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	472					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATTCCAGACAGAGAAAGAGCT	0.527																																																	0								ENSG00000135506						55	53	53					12																	58112779		2203	4300	6503	OS9	SO:0001583	missense	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1414G>A	12.37:g.58112779G>A	ENSP00000318165:p.Glu472Lys	Somatic	0	23	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	226	31.31	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E472K	ENST00000315970.7	37	c.1414	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625179	0.87560	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T;T	0.47177	1.86;1.77;0.85;1.76;1.78;1.47;1.83;1.86;1.81;1.79	5.14	5.14	0.70334	.	0.825875	0.11646	N	0.543250	T	0.49830	0.1580	L	0.27053	0.805	0.42985	D	0.994475	P;P;D;B;P;B;B;B	0.64830	0.824;0.607;0.994;0.282;0.622;0.185;0.064;0.058	B;B;P;B;B;B;B;B	0.62298	0.3;0.12;0.9;0.093;0.152;0.043;0.013;0.019	T	0.13953	-1.0490	10	0.23302	T	0.38	.	9.5182	0.39117	0.0928:0.0:0.9072:0.0	.	398;440;266;473;457;472;457;472	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	K	472;472;165;398;457;266;440;473;420;457	ENSP00000450010:E472K;ENSP00000318165:E472K;ENSP00000447031:E165K;ENSP00000407360:E398K;ENSP00000373798:E457K;ENSP00000413112:E266K;ENSP00000447866:E440K;ENSP00000257966:E473K;ENSP00000389632:E420K;ENSP00000373794:E457K	ENSP00000257966:E473K	E	+	1	0	OS9	56399046	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	3.350000	0.52224	2.689000	0.91719	0.462000	0.41574	GAG	-	NULL		0.527	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58112779	1	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	SNP	0.992	A	A	58112779	G	A	58112779	3	1	145	1	0	0	0	0	1	0	0	0	11274	943	33	2	1460	2	OS9	12	58112779	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	782	58112779	75739116	41	10778			1	79		4	4	1982	G		9.392523e-09
OS9	10956	genome.wustl.edu	37	chr12	58113952	58113952	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggaggccctaatcaggatctGactgtcctcgagatgaaacg	12	10	2	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58113952G>C	ENST00000315970.7	+	13	1712	c.1671G>C	c.(1669-1671)ctG>ctC	p.L557L	OS9_ENST00000389142.5_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Silent_p.L542L|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	557					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATCAGGATCTGACTGTCCTCG	0.587																																																	0								ENSG00000135506						84	84	84					12																	58113952		2203	4300	6503	OS9	SO:0001819	synonymous_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1671G>C	12.37:g.58113952G>C		Somatic	0	37	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	266	371	41.76	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L557	ENST00000315970.7	37	c.1671	CCDS31843.1	12																																																																																			-	NULL		0.587	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58113952	1	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	SNP	1.000	C	C	58113952	G	C	58113952	2	2	145	1	0	0	0	0	0	0	0	1	11274	1277	45	4		4	OS9	12	58113952	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	1173	58113952	75737943	42	10779			1	79		4	4	1982	G		9.392523e-09
CAPS2	84698	genome.wustl.edu	37	chr12	75687052	75687052	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaatccaaagctatttgAtcaatatttgtgattcggag	9	5	1	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:75687052A>T	ENST00000409445.3	-	13	1393	c.1197T>A	c.(1195-1197)gaT>gaA	p.D399E	CAPS2_ENST00000393284.3_Missense_Mutation_p.D167E|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.D317E|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_5'UTR|RP11-560G2.1_ENST00000534648.2_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	399							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGCTATTTGATCAATATTTG	0.313																																																	0								ENSG00000180881						118	108	112					12																	75687052		2203	4300	6503	CAPS2	SO:0001583	missense	0			-	HGNC	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1197T>A	12.37:g.75687052A>T	ENSP00000386959:p.Asp399Glu	Somatic	0	51	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.32	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.D399E	ENST00000409445.3	37	c.1197	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009117	0.35415	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.38077	1.51;1.16;1.26	4.6	2.22	0.28083	.	0.000000	0.64402	D	0.000001	T	0.54111	0.1838	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.993	D;D;P;P	0.85130	0.935;0.997;0.904;0.869	T	0.51849	-0.8653	10	0.72032	D	0.01	-13.0959	8.7201	0.34436	0.8417:0.0:0.1583:0.0	.	167;135;399;317	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	E	317;399;135;167	ENSP00000386977:D317E;ENSP00000386959:D399E;ENSP00000376963:D167E	ENSP00000367975:D135E	D	-	3	2	CAPS2	73973319	1.000000	0.71417	0.978000	0.43139	0.029000	0.11900	3.157000	0.50716	0.249000	0.21456	0.366000	0.22137	GAT	-	NULL		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	protein_coding	OTTHUMT00000327880.2	A		-		75687052	-1	no_errors	ENST00000409445	ensembl	human	known	74_37	missense	SNP	0.998	T	T	75687052	A	T	75687052	3	4	145	1	0	0	0	0	1	0	0	0	2640	330	12	5	500	5	CAPS2	12	75687052	Missense_Mutation	SNP	A	TCGA-HB-A3YV-01A-11D-A24N-09	17573100	75687052	58164843	43	10780											
POTEG	404785	genome.wustl.edu	37	chr14	19553472	19553472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgaagaagccatttgGtctcagaagcaagatgggca	12	8	2	4	rs578121618	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr14:19553472G>A	ENST00000409832.3	+	1	108	c.56G>A	c.(55-57)gGt>gAt	p.G19D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	19										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGCCATTTGGTCTCAGAAGC	0.597													G|||	2	0.000399361	0	0	5008	,	,		37626	0		0	False		,,,				2504	0.002																0								ENSG00000222036						3	4	4					14																	19553472		810	1962	2772	POTEG	SO:0001583	missense	0			-	HGNC		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.56G>A	14.37:g.19553472G>A	ENSP00000386971:p.Gly19Asp	Somatic	0	97	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	114	16.18	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G19D	ENST00000409832.3	37	c.56	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	g	1.400	-0.578466	0.03854	.	.	ENSG00000222036	ENST00000409832	T	0.28255	1.62	0.436	0.436	0.16549	.	.	.	.	.	T	0.15046	0.0363	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.34204	-0.9838	8	0.11485	T	0.65	.	.	.	.	.	19	Q6S5H5	POTEG_HUMAN	D	19	ENSP00000386971:G19D	ENSP00000386971:G19D	G	+	2	0	POTEG	18623472	0.007000	0.16637	0.006000	0.13384	0.004000	0.04260	0.655000	0.24933	0.465000	0.27167	0.165000	0.16767	GGT	-	NULL		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	protein_coding	OTTHUMT00000408579.1	G	NM_001005356	-		19553472	1	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	SNP	0.007	A	A	19553472	G	A	19553472	3	1	145	1	0	0	0	0	1	0	0	0	12268	1261	44	2	58	2	POTEG	14	19553472	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		19553472	87796068	44	10781											
HSP90AA1	3320	genome.wustl.edu	37	chr14	102548534	102548534	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacaggagcgcagttTcataaagcaagatgaccaga	11	8	1	5			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr14:102548534T>G	ENST00000216281.8	-	10	2208	c.2003A>C	c.(2002-2004)gAa>gCa	p.E668A	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E790A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	668					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GAGCGCAGTTTCATAAAGCAA	0.453																																																	0								ENSG00000080824						108	102	104					14																	102548534		2203	4300	6503	HSP90AA1	SO:0001583	missense	0			-	HGNC	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.2003A>C	14.37:g.102548534T>G	ENSP00000216281:p.Glu668Ala	Somatic	0	93	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	72	39.50	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP							pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.E790A	ENST00000216281.8	37	c.2369	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	t	24.0	4.481861	0.84747	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.46819	0.86;0.86	4.47	4.47	0.54385	.	0.000000	0.85682	U	0.000000	T	0.74869	0.3773	M	0.93106	3.38	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.994;0.996	T	0.82202	-0.0574	10	0.87932	D	0	-19.727	14.1096	0.65113	0.0:0.0:0.0:1.0	.	790;668	P07900-2;P07900	.;HS90A_HUMAN	A	668;790	ENSP00000216281:E668A;ENSP00000335153:E790A	ENSP00000216281:E668A	E	-	2	0	HSP90AA1	101618287	1.000000	0.71417	0.838000	0.33150	0.966000	0.64601	7.724000	0.84798	1.805000	0.52779	0.473000	0.43528	GAA	-	pirsf_Hsp90_fam,pfam_Hsp90_fam		0.453	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	protein_coding	OTTHUMT00000414952.2	T	NM_005348	-		102548534	-1	no_errors	ENST00000334701	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102548534	T	G	102548534	3	3	145	1	0	0	0	0	1	0	0	0	7403	1783	62	5	203	5	HSP90AA1	14	102548534	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09	82995062	102548534	4801006	45	10782											
FMN1	342184	genome.wustl.edu	37	chr15	33359026	33359026	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcggttcagttttggGcatgtcaatgttgagcagca	11	9	2	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr15:33359026G>C	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.P354A|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.P354A|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCAGTTTTGGGCATGTCAATG	0.572																																																	0								ENSG00000248905						72	74	73					15																	33359026		2014	4180	6194	FMN1	SO:0001627	intron_variant	0			-	HGNC	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1751C>G	15.37:g.33359026G>C		Somatic	0	64	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP							pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.P354A	ENST00000559047.1	37	c.1060		15	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983694	0.35036	.	.	ENSG00000248905	ENST00000334528	T	0.38401	1.14	5.83	4.92	0.64577	.	1.003210	0.08020	N	0.991801	T	0.34279	0.0892	.	.	.	.	.	.	P;B	0.45531	0.86;0.167	P;B	0.44561	0.453;0.048	T	0.13495	-1.0507	8	0.23302	T	0.38	.	10.4972	0.44785	0.1628:0.0:0.8372:0.0	.	354;354	Q68DA7-3;Q68DA7-5	.;.	A	354	ENSP00000333950:P354A	ENSP00000333950:P354A	P	-	1	0	FMN1	31146318	1.000000	0.71417	0.993000	0.49108	0.565000	0.35776	3.130000	0.50508	1.476000	0.48215	-0.163000	0.13421	CCC	-	NULL		0.572	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	protein_coding	OTTHUMT00000417414.1	G	NM_001103184	-		33359026	-1	no_errors	ENST00000334528	ensembl	human	known	74_37	missense	SNP	0.997	C	C	33359026	G	C	33359026	1	2	145	0	1	0	0	0	0	0	0	0	5951	1203	42	4		4	FMN1	15	33359026	Intron	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		33359026	69172366	46	10783											
C16orf58	64755	genome.wustl.edu	37	chr16	31512021	31512021	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcaccctttccaccaggcAaagacgatgcggcccagcat	8	16	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:31512021A>T	ENST00000327237.2	-	3	486	c.447T>A	c.(445-447)ttT>ttA	p.F149L	C16orf58_ENST00000567994.1_Missense_Mutation_p.F104L|C16orf58_ENST00000570164.1_Missense_Mutation_p.F149L|C16orf58_ENST00000430477.2_Missense_Mutation_p.F7L			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	149						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TCCACCAGGCAAAGACGATGC	0.532																																																	0								ENSG00000140688						91	88	89					16																	31512021		2197	4300	6497	C16orf58	SO:0001583	missense	0			-	HGNC	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.447T>A	16.37:g.31512021A>T	ENSP00000317579:p.Phe149Leu	Somatic	0	25	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Nonsense_Mutation	SNP							pfam_RUS2/WXR1	p.L111*	ENST00000327237.2	37	c.332	CCDS10715.1	16	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239123	0.79800	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000541442;ENST00000430477	T;T	0.49720	0.77;0.77	5.55	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.86740	2.835	0.52501	D	0.999957	P;P	0.46512	0.75;0.879	P;P	0.54460	0.753;0.658	T	0.63915	-0.6529	10	0.37606	T	0.19	-27.4671	9.417	0.38528	0.916:0.0:0.084:0.0	.	7;149	B4DJP2;Q96GQ5	.;CP058_HUMAN	L	149;103;149;7	ENSP00000317579:F149L;ENSP00000398074:F7L	ENSP00000317579:F149L	F	-	3	2	C16orf58	31419522	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.356000	0.44116	0.938000	0.37419	0.455000	0.32223	TTT	-	NULL		0.532	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf58	protein_coding	OTTHUMT00000255629.2	A	NM_022744	-		31512021	-1	no_errors	ENST00000565128	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	31512021	A	T	31512021	3	4	145	1	0	0	0	0	1	0	0	0	1824	127	5	5	1003	5	C16orf58	16	31512021	Missense_Mutation	SNP	A	TCGA-HB-A3YV-01A-11D-A24N-09		31512021	58842732	47	10784											
CX3CL1	6376	genome.wustl.edu	37	chr16	57416468	57416468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccccagaggagaatGctccgtctgaaggccagcgt	12	15	1	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:57416468G>T	ENST00000006053.6	+	3	829	c.718G>T	c.(718-720)Gct>Tct	p.A240S	CX3CL1_ENST00000565912.1_Missense_Mutation_p.A202S|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A246S	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	240	Mucin-like stalk.		A -> V (in dbSNP:rs35860084).		angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGAGGAGAATGCTCCGTCTGA	0.682																																																	0								ENSG00000006210						35	39	37					16																	57416468		2197	4300	6497	CX3CL1	SO:0001583	missense	0			-	HGNC	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.718G>T	16.37:g.57416468G>T	ENSP00000006053:p.Ala240Ser	Somatic	0	50	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O00672	Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1	p.A240S	ENST00000006053.6	37	c.718	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	7.923	0.739008	0.15642	.	.	ENSG00000006210	ENST00000006053	T	0.04758	3.56	4.35	-8.7	0.00851	.	4.212230	0.01836	U	0.034987	T	0.02267	0.0070	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43972	-0.9358	10	0.87932	D	0	-12.9614	6.972	0.24654	0.1729:0.1092:0.6196:0.0983	.	240	P78423	X3CL1_HUMAN	S	240	ENSP00000006053:A240S	ENSP00000006053:A240S	A	+	1	0	CX3CL1	55973969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.422000	0.01030	-2.153000	0.00793	-1.520000	0.00934	GCT	-	NULL		0.682	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	protein_coding	OTTHUMT00000257345.3	G	NM_002996	-		57416468	1	no_errors	ENST00000006053	ensembl	human	known	74_37	missense	SNP	0.000	T	T	57416468	G	T	57416468	3	4	145	1	0	0	0	0	1	0	0	0	4076	1319	46	3	728	3	CX3CL1	16	57416468	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	25904447	57416468	32938285	48	10785											
CCDC135	84229	genome.wustl.edu	37	chr16	57760001	57760001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcacagagcggttcttcCgcaacccagcgaagcccgcg	10	15	2	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:57760001C>T	ENST00000360716.3	+	14	2001	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R594C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R529C			Q8IY82	CC135_HUMAN		594					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGTTCTTCCGCAACCCAGC	0.602																																																	0								ENSG00000159625						40	35	37					16																	57760001		2198	4298	6496	CCDC135	SO:0001583	missense	0			-	HGNC																												ENST00000360716.3:c.1780C>T	16.37:g.57760001C>T	ENSP00000353942:p.Arg594Cys	Somatic	0	44	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP							NULL	p.R594C	ENST00000360716.3	37	c.1780	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	14.97	2.694225	0.48202	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20463	2.26;2.07;2.26	4.87	4.87	0.63330	.	0.108371	0.64402	D	0.000013	T	0.49406	0.1555	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56074	-0.8039	10	0.87932	D	0	-30.8412	10.7779	0.46361	0.2988:0.7012:0.0:0.0	.	529;594	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	594;529;594	ENSP00000377869:R594C;ENSP00000338938:R529C;ENSP00000353942:R594C	ENSP00000338938:R529C	R	+	1	0	CCDC135	56317502	0.993000	0.37304	0.985000	0.45067	0.180000	0.23129	3.116000	0.50399	2.253000	0.74438	0.655000	0.94253	CGC	-	NULL		0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	protein_coding	OTTHUMT00000433323.2	C		-		57760001	1	no_errors	ENST00000360716	ensembl	human	known	74_37	missense	SNP	0.997	T	T	57760001	C	T	57760001	3	4	145	1	0	0	0	0	1	0	0	0	2771	652	23	1	1826	1	CCDC135	16	57760001	Missense_Mutation	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	343533	57760001	32594752	49	10786											
USP43	124739	genome.wustl.edu	37	chr17	9604692	9604692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggatgacgcctggaaGtgtcctcactgccaagtcct	11	14	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:9604692G>T	ENST00000285199.7	+	12	1782	c.1686G>T	c.(1684-1686)aaG>aaT	p.K562N	USP43_ENST00000570475.1_Missense_Mutation_p.K562N|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	562	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACGCCTGGAAGTGTCCTCACT	0.617																																																	0								ENSG00000154914						32	34	33					17																	9604692		2167	4263	6430	USP43	SO:0001583	missense	0			-	HGNC	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1686G>T	17.37:g.9604692G>T	ENSP00000285199:p.Lys562Asn	Somatic	0	41	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.K562N	ENST00000285199.7	37	c.1686	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581322	0.65992	.	.	ENSG00000154914	ENST00000285199	T	0.02974	4.09	5.12	-2.49	0.06403	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.291851	0.29594	N	0.011710	T	0.05135	0.0137	L	0.35644	1.08	0.47276	D	0.999377	D;D;B;P	0.69078	0.995;0.997;0.202;0.819	D;P;B;P	0.68621	0.959;0.888;0.155;0.539	T	0.49303	-0.8954	10	0.32370	T	0.25	-17.1238	5.85	0.18687	0.1554:0.0:0.3547:0.4899	.	562;251;562;74	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	N	562	ENSP00000285199:K562N	ENSP00000285199:K562N	K	+	3	2	USP43	9545417	1.000000	0.71417	0.287000	0.24848	0.872000	0.50106	0.836000	0.27545	-0.024000	0.13941	0.563000	0.77884	AAG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.617	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	protein_coding	OTTHUMT00000439855.3	G	NM_153210	-		9604692	1	no_errors	ENST00000285199	ensembl	human	known	74_37	missense	SNP	0.963	T	T	9604692	G	T	9604692	3	4	145	1	0	0	0	0	1	0	0	0	17081	1020	36	3	1732	3	USP43	17	9604692	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		9604692	71590518	50	10787											
MYH13	8735	genome.wustl.edu	37	chr17	10267836	10267836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaatggccatttctgcGtcagagctcatgactgcaga	9	11	3	3	rs34042358	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:10267836G>A	ENST00000418404.3	-	2	175	c.12C>T	c.(10-12)gaC>gaT	p.D4D	MYH13_ENST00000252172.4_Silent_p.D4D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	4					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATTTCTGCGTCAGAGCTCA	0.527																																																	0								ENSG00000006788						49	46	47					17																	10267836		1937	4152	6089	MYH13	SO:0001819	synonymous_variant	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.12C>T	17.37:g.10267836G>A		Somatic	0	62	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	42	41.67	O95252|Q9P0U8	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D4	ENST00000418404.3	37	c.12	CCDS45613.1	17																																																																																			-	NULL		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	G	NM_003802	-		10267836	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	silent	SNP	0.658	A	A	10267836	G	A	10267836	2	1	145	1	0	0	0	0	0	0	0	1	10034	1136	40	1		1	MYH13	17	10267836	Silent	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	663144	10267836	70927374	51	10788											
MAP2K3	5606	genome.wustl.edu	37	chr17	21204268	21204268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcgcacggtcgactgttTctacactgtcaccttctacg	8	14	3	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:21204268T>C	ENST00000342679.4	+	5	611	c.362T>C	c.(361-363)tTc>tCc	p.F121S	MAP2K3_ENST00000361818.5_Missense_Mutation_p.F92S|MAP2K3_ENST00000316920.6_Missense_Mutation_p.F92S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTCGACTGTTTCTACACTGTC	0.597																																																	0								ENSG00000034152						200	164	176					17																	21204268		2203	4300	6503	MAP2K3	SO:0001583	missense	0			-	HGNC	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.362T>C	17.37:g.21204268T>C	ENSP00000345083:p.Phe121Ser	Somatic	0	46	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	76	11.63	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F121S	ENST00000342679.4	37	c.362	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086361	0.36855	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;D	0.88664	1.14;1.14;-2.41	5.22	4.15	0.48705	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	0.64402	D	0.000001	T	0.78541	0.4299	N	0.13098	0.295	0.42929	D	0.994318	B	0.32862	0.387	B	0.36608	0.229	T	0.72636	-0.4233	10	0.38643	T	0.18	-31.5058	5.9079	0.19010	0.1465:0.0775:0.0:0.776	.	121	P46734	MP2K3_HUMAN	S	121;92;92;92;125	ENSP00000345083:F121S;ENSP00000355081:F92S;ENSP00000434068:F92S	ENSP00000319139:F125S	F	+	2	0	MAP2K3	21144861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.692000	0.37731	0.842000	0.35045	0.533000	0.62120	TTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.597	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	protein_coding	OTTHUMT00000259374.2	T	NM_145109	-		21204268	1	no_errors	ENST00000342679	ensembl	human	known	74_37	missense	SNP	1.000	C	C	21204268	T	C	21204268	3	2	145	1	0	0	0	0	1	0	0	0	9240	1783	62	5	380	5	MAP2K3	17	21204268	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09	10936432	21204268	59990942	52	10789											
SGSH	6448	genome.wustl.edu	37	chr17	78184600	78184602	+	In_Frame_Del	DEL	ACG	ACG	-													tcttgaagttgaggttgtgcAcgaggcggaagtgccggtgc					rs62620232	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	ACG	ACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:78184600_78184602delACG	ENST00000326317.6	-	8	1244_1246	c.1158_1160delCGT	c.(1156-1161)ctcgtg>ctg	p.V387del	SGSH_ENST00000534910.1_In_Frame_Del_p.V184del	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	387			V -> M (in dbSNP:rs62620232). {ECO:0000269|PubMed:17128482}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L386L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGGTTGTGCACGAGGCGGAAGT	0.631																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000181523																																			SGSH	SO:0001651	inframe_deletion	0				HGNC	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1158_1160delCGT	17.37:g.78184600_78184602delACG	ENSP00000314606:p.Val387del	Somatic	0	25	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	A8K5E2	In_Frame_Del	DEL							pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.V387in_frame_del	ENST00000326317.6	37	c.1160_1158	CCDS11770.1	17																																																																																			-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.631	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSH	protein_coding	OTTHUMT00000437695.1	ACG	NM_000199			78184602	-1	no_errors	ENST00000326317	ensembl	human	known	74_37	in_frame_del	DEL	0.995:0.845:0.006	-	-	78184602	ACG	-	78184600	7	5	145	1	0	1	0	1	0	0	0	0	14229	159	6	0	352	0	SGSH	17	78184600	In_Frame_Del	DEL	ACG	TCGA-HB-A3YV-01A-11D-A24N-09	56980332	78184600	3010610	53	10790											
APCDD1	147495	genome.wustl.edu	37	chr18	10471744	10471744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaacgtccaggtgatcTgccacacagaggcggtggcc	13	13	1	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr18:10471744T>G	ENST00000355285.5	+	3	814	c.460T>G	c.(460-462)Tgc>Ggc	p.C154G	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCAGGTGATCTGCCACACAGA	0.662																																																	0								ENSG00000154856						50	55	53					18																	10471744		2203	4300	6503	APCDD1	SO:0001583	missense	0			-	HGNC	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.460T>G	18.37:g.10471744T>G	ENSP00000347433:p.Cys154Gly	Somatic	0	43	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60		Missense_Mutation	SNP							NULL	p.C154G	ENST00000355285.5	37	c.460	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	T	5.751	0.323034	0.10900	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16457	2.34	5.3	2.9	0.33743	.	0.405543	0.32640	N	0.005836	T	0.11452	0.0279	L	0.36672	1.1	0.80722	D	1	B	0.20261	0.043	B	0.23574	0.047	T	0.16808	-1.0390	10	0.54805	T	0.06	-45.8856	1.8599	0.03187	0.1365:0.1426:0.1422:0.5787	.	154	Q8J025	APCD1_HUMAN	G	154;205	ENSP00000347433:C154G	ENSP00000347433:C154G	C	+	1	0	APCDD1	10461744	0.983000	0.35010	0.998000	0.56505	0.175000	0.22909	1.212000	0.32394	0.829000	0.34733	-0.316000	0.08728	TGC	-	NULL		0.662	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	protein_coding	OTTHUMT00000254529.2	T	NM_153000	-		10471744	1	no_errors	ENST00000355285	ensembl	human	known	74_37	missense	SNP	0.997	G	G	10471744	T	G	10471744	3	3	145	1	0	0	0	0	1	0	0	0	765	1580	55	5	470	5	APCDD1	18	10471744	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09		10471744	67605504	54	10791											
REXO1	57455	genome.wustl.edu	37	chr19	1819988	1819988	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagcttcttgagggtgttCacggccacattcaggtagat	12	9	3	3			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr19:1819988C>T	ENST00000170168.4	-	7	2689	c.2595G>A	c.(2593-2595)gtG>gtA	p.V865V	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	865						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGAGGGTGTTCACGGCCACAT	0.662																																																	0								ENSG00000079313						38	37	37					19																	1819988		2203	4300	6503	REXO1	SO:0001819	synonymous_variant	0			-	HGNC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2595G>A	19.37:g.1819988C>T		Somatic	0	61	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	406	22.62	Q9ULT2	Silent	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.V865	ENST00000170168.4	37	c.2595	CCDS32866.1	19																																																																																			-	NULL		0.662	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	protein_coding	OTTHUMT00000449200.1	C	NM_020695	-		1819988	-1	no_errors	ENST00000170168	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1819988	C	T	1819988	2	4	145	1	0	0	0	0	0	0	0	1	13249	813	29	2		2	REXO1	19	1819988	Silent	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09		1819988	57308995	55	10792											
KDM4B	23030	genome.wustl.edu	37	chr19	5133999	5133999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcttccaggccgagaGgaagttcaacgcagcggctg	15	12	1	1			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr19:5133999G>A	ENST00000159111.4	+	14	2230	c.2012G>A	c.(2011-2013)aGg>aAg	p.R671K	KDM4B_ENST00000536461.1_Missense_Mutation_p.R705K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	671					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAGGCCGAGAGGAAGTTCAAC	0.662																																																	0								ENSG00000127663						70	82	78					19																	5133999		2203	4300	6503	KDM4B	SO:0001583	missense	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2012G>A	19.37:g.5133999G>A	ENSP00000159111:p.Arg671Lys	Somatic	0	74	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	65	35.64	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.R671K	ENST00000159111.4	37	c.2012	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140365	0.37825	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.40225	1.04;1.04	3.87	2.78	0.32641	.	0.308673	0.33834	N	0.004520	T	0.30759	0.0775	L	0.45352	1.415	0.28907	N	0.892935	B;B	0.30236	0.08;0.274	B;B	0.31442	0.084;0.13	T	0.26849	-1.0091	10	0.05351	T	0.99	-35.631	13.2736	0.60175	0.0:0.1609:0.8391:0.0	.	705;671	F5GX28;O94953	.;KDM4B_HUMAN	K	671;705	ENSP00000159111:R671K;ENSP00000440495:R705K	ENSP00000159111:R671K	R	+	2	0	KDM4B	5084999	0.982000	0.34865	0.793000	0.32043	0.970000	0.65996	3.130000	0.50508	0.688000	0.31529	0.561000	0.74099	AGG	-	NULL		0.662	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	G	NM_015015	-		5133999	1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5133999	G	A	5133999	3	1	145	1	0	0	0	0	1	0	0	0	8131	1000	35	2	2058	2	KDM4B	19	5133999	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09	3314011	5133999	53994984	56	10793											
LSM14A	26065	genome.wustl.edu	37	chr19	34685495	34685495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaaagaccttactgtttgTgagccaccaaaaccacagtg	7	10	0	2			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr19:34685495T>G	ENST00000433627.5	+	2	309	c.234T>G	c.(232-234)tgT>tgG	p.C78W	LSM14A_ENST00000540746.2_Missense_Mutation_p.C78W|LSM14A_ENST00000544216.3_Missense_Mutation_p.C78W	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	78					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TTACTGTTTGTGAGCCACCAA	0.443																																																	0								ENSG00000257103						218	186	197					19																	34685495		2203	4300	6503	LSM14A	SO:0001583	missense	0			-	HGNC	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.234T>G	19.37:g.34685495T>G	ENSP00000413964:p.Cys78Trp	Somatic	0	65	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP							pfam_FDF_dom,superfamily_LSM_dom	p.C78W	ENST00000433627.5	37	c.234	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793490	0.70452	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32515	1.45;1.45;1.47	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.995	T	0.57625	-0.7779	10	0.38643	T	0.18	-15.553	10.9091	0.47097	0.0:0.0734:0.0:0.9266	.	78;78;78	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	W	78	ENSP00000446271:C78W;ENSP00000413964:C78W;ENSP00000446451:C78W	ENSP00000314768:C78W	C	+	3	2	LSM14A	39377335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.837000	0.48191	2.189000	0.69895	0.533000	0.62120	TGT	-	superfamily_LSM_dom		0.443	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	protein_coding	OTTHUMT00000451576.3	T	NM_015578	-		34685495	1	no_errors	ENST00000433627	ensembl	human	known	74_37	missense	SNP	1.000	G	G	34685495	T	G	34685495	3	3	145	1	0	0	0	0	1	0	0	0	9056	1702	59	5	240	5	LSM14A	19	34685495	Missense_Mutation	SNP	T	TCGA-HB-A3YV-01A-11D-A24N-09	29551496	34685495	24443488	57	10794											
SAMHD1	25939	genome.wustl.edu	37	chr20	35545145	35545145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatctctagcacaaatacGcaactcattgtctacttcac	3	13	4	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr20:35545145G>A	ENST00000262878.4	-	9	1241	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	SAMHD1_ENST00000373694.5_Missense_Mutation_p.R133C	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	348					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R348C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCACAAATACGCAACTCATTG	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000101347						204	221	215					20																	35545145		2203	4300	6503	SAMHD1	SO:0001583	missense	0			-	HGNC	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1042C>T	20.37:g.35545145G>A	ENSP00000262878:p.Arg348Cys	Somatic	0	37	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP							pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.R348C	ENST00000262878.4	37	c.1042	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897650	0.52121	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95447	-3.71;-2.46	5.67	3.74	0.42951	HD domain (1);	0.442134	0.26959	N	0.021632	D	0.92149	0.7511	L	0.39898	1.24	0.49389	D	0.999788	P	0.44659	0.84	B	0.40741	0.339	D	0.90695	0.4616	10	0.72032	D	0.01	-2.3505	11.6988	0.51558	0.1438:0.0:0.8562:0.0	.	348	Q9Y3Z3	SAMH1_HUMAN	C	348;133	ENSP00000262878:R348C;ENSP00000362798:R133C	ENSP00000262878:R348C	R	-	1	0	SAMHD1	34978559	1.000000	0.71417	0.394000	0.26270	0.839000	0.47603	3.065000	0.49994	0.755000	0.32990	0.591000	0.81541	CGT	-	NULL		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	protein_coding	OTTHUMT00000079062.2	G	NM_015474	-		35545145	-1	no_errors	ENST00000262878	ensembl	human	known	74_37	missense	SNP	0.998	A	A	35545145	G	A	35545145	3	1	145	1	0	0	0	0	1	0	0	0	13836	1087	38	1	870	1	SAMHD1	20	35545145	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		35545145	27480375	58	10795											
HDAC6	10013	genome.wustl.edu	37	chrX	48682631	48682631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaacaccatggaaattctgGacacccgctggtcctcagct	8	15	2	0			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chrX:48682631G>T	ENST00000334136.5	+	28	3684	c.3506G>T	c.(3505-3507)gGa>gTa	p.G1169V	HDAC6_ENST00000376619.2_Missense_Mutation_p.G1169V|HDAC6_ENST00000444343.2_Missense_Mutation_p.G1183V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1169					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAATTCTGGACACCCGCTG	0.577																																					Pancreas(112;205 1675 2305 8976 15959)												0								ENSG00000094631						159	110	126					X																	48682631		2203	4300	6503	HDAC6	SO:0001583	missense	0			-	HGNC	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3506G>T	X.37:g.48682631G>T	ENSP00000334061:p.Gly1169Val	Somatic	0	18	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	1	96.30	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP							pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.G1183V	ENST00000334136.5	37	c.3548	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889665	0.52014	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.37058	1.22;1.22;1.22	5.27	1.97	0.26223	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.431961	0.24583	N	0.037299	T	0.61578	0.2358	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.982;0.988;0.985;0.982	T	0.58847	-0.7564	10	0.46703	T	0.11	-1.9854	7.6478	0.28331	0.3457:0.0:0.6543:0.0	.	1159;532;817;1169	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	V	1183;1169;1169	ENSP00000398566:G1183V;ENSP00000334061:G1169V;ENSP00000365804:G1169V	ENSP00000334061:G1169V	G	+	2	0	HDAC6	48567575	1.000000	0.71417	0.417000	0.26559	0.840000	0.47671	4.409000	0.59768	0.043000	0.15746	0.287000	0.19450	GGA	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	protein_coding	OTTHUMT00000083394.2	G	NM_006044	-		48682631	1	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	SNP	0.932	T	T	48682631	G	T	48682631	3	4	145	1	0	0	0	0	1	0	0	0	7013	1174	41	3	3612	3	HDAC6	23	48682631	Missense_Mutation	SNP	G	TCGA-HB-A3YV-01A-11D-A24N-09		48682631	106587929	59	10796											
AFF2	2334	genome.wustl.edu	37	chrX	148037966	148037966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcgagatcatgagaaCctgaaaaacctctgggtgaa	10	10	3	4			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chrX:148037966C>T	ENST00000370460.2	+	11	2870	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	AFF2_ENST00000342251.3_Silent_p.N764N|AFF2_ENST00000370457.5_Silent_p.N764N|AFF2_ENST00000286437.5_Silent_p.N438N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	797					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)			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)					ATCATGAGAACCTGAAAAACC	0.478																																																	0								ENSG00000155966						121	111	114					X																	148037966		2203	4300	6503	AFF2	SO:0001819	synonymous_variant	0			-	HGNC	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.2391C>T	X.37:g.148037966C>T		Somatic	0	28	0		0.65135423498072				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	21	51.16	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP							pfam_TF_AF4/FMR2	p.N797	ENST00000370460.2	37	c.2391	CCDS14684.1	X																																																																																			-	pfam_TF_AF4/FMR2		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	C	NM_002025	-		148037966	1	no_errors	ENST00000370460	ensembl	human	known	74_37	silent	SNP	0.004	T	T	148037966	C	T	148037966	2	4	145	1	0	0	0	0	0	0	0	1	357	506	18	2		2	AFF2	23	148037966	Silent	SNP	C	TCGA-HB-A3YV-01A-11D-A24N-09	99355335	148037966	7232594	60	10797											
MTOR	2475	genome.wustl.edu	37	chr1	11175517	11175517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacggtccagcatcaggttgGatgggtgtctttgagaaaca	14	7	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr1:11175517G>T	ENST00000361445.4	-	51	7101	c.7025C>A	c.(7024-7026)tCc>tAc	p.S2342Y	MTOR_ENST00000376838.1_Missense_Mutation_p.S547Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2342	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CATCAGGTTGGATGGGTGTCT	0.463																																																	0								ENSG00000198793						158	136	144					1																	11175517		2203	4300	6503	MTOR	SO:0001583	missense	0			-	HGNC	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7025C>A	1.37:g.11175517G>T	ENSP00000354558:p.Ser2342Tyr	Somatic	0	59	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	67	0	0	27	0.00	0	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S2342Y	ENST00000361445.4	37	c.7025	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716283	0.89205	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.81996	-1.56;-1.56	5.51	5.51	0.81932	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.104150	0.64402	D	0.000002	D	0.95268	0.8465	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97162	0.9838	10	0.87932	D	0	-21.8506	18.4659	0.90755	0.0:0.0:1.0:0.0	.	2342	P42345	MTOR_HUMAN	Y	2342;547	ENSP00000354558:S2342Y;ENSP00000366034:S547Y	ENSP00000354558:S2342Y	S	-	2	0	MTOR	11098104	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.784000	0.91818	2.601000	0.87937	0.650000	0.86243	TCC	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	protein_coding	OTTHUMT00000005558.1	G	NM_004958	-		11175517	-1	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11175517	G	T	11175517	3	4	146	1	0	0	0	0	1	0	0	0	9956	1174	41	3	656	3	MTOR	1	11175517	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		11175517	238075104	1	10798											
FGR	2268	genome.wustl.edu	37	chr1	27943478	27943478	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgcttcacatgatcgcctCtggtctgatcccagtcccgg	9	14	3	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr1:27943478C>A	ENST00000374005.3	-	7	860	c.572G>T	c.(571-573)aGa>aTa	p.R191I	FGR_ENST00000545953.1_Missense_Mutation_p.R125I|FGR_ENST00000399173.1_Missense_Mutation_p.R191I|FGR_ENST00000374004.1_Missense_Mutation_p.R191I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	191	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATCGCCTCTGGTCTGATC	0.557																																																	0								ENSG00000000938						135	121	126					1																	27943478		2203	4300	6503	FGR	SO:0001583	missense	0			-	HGNC	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.572G>T	1.37:g.27943478C>A	ENSP00000363117:p.Arg191Ile	Somatic	0	117	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	26	46.94	D3DPL7|Q9UIQ3	Missense_Mutation	SNP	64	0	0	29	44.23	23	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.R191I	ENST00000374005.3	37	c.572	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713989	0.68730	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.79247	-0.84;-0.8;-0.84;-0.84;-0.84;-1.25	4.38	1.79	0.24919	SH2 motif (4);	0.302624	0.26518	N	0.023935	T	0.75280	0.3828	L	0.58583	1.82	0.35142	D	0.768943	B	0.33694	0.421	B	0.42593	0.392	T	0.77534	-0.2552	10	0.72032	D	0.01	.	7.1712	0.25719	0.0:0.6305:0.0:0.3695	.	191	P09769	FGR_HUMAN	I	191;125;191;191;191;191	ENSP00000363117:R191I;ENSP00000445302:R125I;ENSP00000382126:R191I;ENSP00000363116:R191I;ENSP00000363115:R191I;ENSP00000407670:R191I	ENSP00000363115:R191I	R	-	2	0	FGR	27816065	1.000000	0.71417	0.882000	0.34594	0.981000	0.71138	4.210000	0.58500	0.475000	0.27415	0.491000	0.48974	AGA	-	pfam_SH2,smart_SH2,pfscan_SH2		0.557	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	protein_coding	OTTHUMT00000009772.1	C	NM_005248	-		27943478	-1	no_errors	ENST00000374003	ensembl	human	known	74_37	missense	SNP	0.997	A	A	27943478	C	A	27943478	3	1	146	1	0	0	0	0	1	0	0	0	5876	913	32	3	1045	3	FGR	1	27943478	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	16767961	27943478	221307143	2	10799											
DPYD	1806	genome.wustl.edu	37	chr1	98157281	98157281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcatttacctttacacCaaggtccttcattagctcaa	3	11	3	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr1:98157281C>T	ENST00000370192.3	-	7	854	c.754G>A	c.(754-756)Ggt>Agt	p.G252S	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	252					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACCTTTACACCAAGGTCCTTC	0.368																																																	0								ENSG00000188641						102	103	103					1																	98157281		2203	4300	6503	DPYD	SO:0001583	missense	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.754G>A	1.37:g.98157281C>T	ENSP00000359211:p.Gly252Ser	Somatic	0	8	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	42	52.81	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	14	0	0	53	40.45	36	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.G252S	ENST00000370192.3	37	c.754	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.378349	0.95945	.	.	ENSG00000188641	ENST00000370192	D	0.96073	-3.9	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	H	0.99238	4.48	0.80722	D	1	D	0.61697	0.99	P	0.60789	0.879	D	0.99705	1.1005	10	0.87932	D	0	-16.9303	18.7184	0.91685	0.0:1.0:0.0:0.0	.	252	Q12882	DPYD_HUMAN	S	252	ENSP00000359211:G252S	ENSP00000359211:G252S	G	-	1	0	DPYD	97929869	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.412000	0.80091	2.497000	0.84241	0.460000	0.39030	GGT	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	C	NM_000110	-		98157281	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98157281	C	T	98157281	3	4	146	1	0	0	0	0	1	0	0	0	4747	594	21	2	2391	2	DPYD	1	98157281	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	70213803	98157281	151093340	3	10800											
SARS	6301	genome.wustl.edu	37	chr1	109766653	109766653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacctatgcagcaagacaAtcggagagaaaatgaaggta	11	6	0	4			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr1:109766653A>G	ENST00000234677.2	+	2	265	c.190A>G	c.(190-192)Atc>Gtc	p.I64V	SARS_ENST00000369923.4_Missense_Mutation_p.I64V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	64					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CAGCAAGACAATCGGAGAGAA	0.388																																																	0								ENSG00000031698						159	163	162					1																	109766653		2203	4300	6503	SARS	SO:0001583	missense	0			-	HGNC	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.190A>G	1.37:g.109766653A>G	ENSP00000234677:p.Ile64Val	Somatic	0	54	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	67	40.87	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	69	0	0	34	56.96	45	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.I64V	ENST00000234677.2	37	c.190	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879867	0.72294	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.51574	0.7;0.7	5.93	5.93	0.95920	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25890	0.77	0.80722	D	1	B;B;P;B	0.35107	0.283;0.334;0.484;0.283	B;B;B;B	0.42245	0.268;0.381;0.268;0.268	T	0.15896	-1.0421	10	0.31617	T	0.26	-14.3221	16.0678	0.80897	1.0:0.0:0.0:0.0	.	64;64;64;64	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	V	64	ENSP00000234677:I64V;ENSP00000358939:I64V	ENSP00000234677:I64V	I	+	1	0	SARS	109568176	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	8.919000	0.92770	2.281000	0.76405	0.533000	0.62120	ATC	-	pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1		0.388	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	protein_coding	OTTHUMT00000032394.2	A	NM_006513	-		109766653	1	no_errors	ENST00000369923	ensembl	human	known	74_37	missense	SNP	1.000	G	G	109766653	A	G	109766653	3	3	146	1	0	0	0	0	1	0	0	0	13852	101	4	5	196	5	SARS	1	109766653	Missense_Mutation	SNP	A	TCGA-HB-A43Z-01A-11D-A24N-09	11609372	109766653	139483968	4	10801											
OR2G6	391211	genome.wustl.edu	37	chr1	248685272	248685272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtggccatggggttgggcTcgtctgagtgtattctcttg	15	7	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr1:248685272T>C	ENST00000343414.4	+	1	357	c.325T>C	c.(325-327)Tcg>Ccg	p.S109P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGGTTGGGCTCGTCTGAGTG	0.547																																																	0								ENSG00000188558						103	102	102					1																	248685272		2203	4300	6503	OR2G6	SO:0001583	missense	0			-	HGNC		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.325T>C	1.37:g.248685272T>C	ENSP00000341291:p.Ser109Pro	Somatic	0	13	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B2RP33	Missense_Mutation	SNP	18	0	0	69	10.39	8	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S109P	ENST00000343414.4	37	c.325	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	8.163	0.789909	0.16258	.	.	ENSG00000188558	ENST00000343414	T	0.03124	4.04	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000624	T	0.15869	0.0382	M	0.85462	2.755	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.02581	-1.1138	10	0.59425	D	0.04	.	7.6759	0.28486	0.1892:0.0:0.0:0.8108	.	109	Q5TZ20	OR2G6_HUMAN	P	109	ENSP00000341291:S109P	ENSP00000341291:S109P	S	+	1	0	OR2G6	246751895	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-1.319000	0.02702	1.523000	0.49018	0.329000	0.21502	TCG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	protein_coding	OTTHUMT00000097358.1	T	XM_372842	-		248685272	1	no_errors	ENST00000343414	ensembl	human	known	74_37	missense	SNP	0.000	C	C	248685272	T	C	248685272	3	2	146	1	0	0	0	0	1	0	0	0	11002	1551	54	5	327	5	OR2G6	1	248685272	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09	138918619	248685272	565349	5	10802											
TRIB2	28951	genome.wustl.edu	37	chr2	12880858	12880858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatatggtgctaaggaaGtgtctgaccagctggtgccg	14	9	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr2:12880858G>A	ENST00000155926.4	+	3	2389	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	TRIB2_ENST00000381465.2_Missense_Mutation_p.V188M	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCTAAGGAAGTGTCTGACCA	0.522																																																	0								ENSG00000071575						82	77	79					2																	12880858		2203	4300	6503	TRIB2	SO:0001583	missense	0			-	HGNC	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.970G>A	2.37:g.12880858G>A	ENSP00000155926:p.Val324Met	Somatic	0	42	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	26	49.02		Missense_Mutation	SNP	41	0	0	17	56.41	22	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V324M	ENST00000155926.4	37	c.970	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714935	0.48622	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.49720	0.8;0.77	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.184155	0.38217	N	0.001761	T	0.36303	0.0962	N	0.14661	0.345	0.80722	D	1	B	0.18610	0.029	B	0.18263	0.021	T	0.09335	-1.0679	10	0.45353	T	0.12	-8.4631	19.354	0.94404	0.0:0.0:1.0:0.0	.	324	Q92519	TRIB2_HUMAN	M	324;188	ENSP00000155926:V324M;ENSP00000370874:V188M	ENSP00000155926:V324M	V	+	1	0	TRIB2	12798309	1.000000	0.71417	0.943000	0.38184	0.998000	0.95712	9.831000	0.99420	2.820000	0.97059	0.650000	0.86243	GTG	-	superfamily_Kinase-like_dom		0.522	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	protein_coding	OTTHUMT00000207114.2	G	NM_021643	-		12880858	1	no_errors	ENST00000155926	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12880858	G	A	12880858	3	1	146	1	0	0	0	0	1	0	0	0	16490	1029	36	2	980	2	TRIB2	2	12880858	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		12880858	230318515	6	10803											
DYSF	8291	genome.wustl.edu	37	chr2	71825861	71825861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattgtggtggagctgtacGaccatgacacttatgtgagt	13	7	0	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr2:71825861G>A	ENST00000258104.3	+	33	3965	c.3688G>A	c.(3688-3690)Gac>Aac	p.D1230N	DYSF_ENST00000409366.1_Missense_Mutation_p.D1231N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1231N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1247N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1261N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1217N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.D1230N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1248N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1248N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1247N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1262N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1230	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GGAGCTGTACGACCATGACAC	0.612																																																	0								ENSG00000135636						70	69	69					2																	71825861		2203	4300	6503	DYSF	SO:0001583	missense	0			-	HGNC	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.3688G>A	2.37:g.71825861G>A	ENSP00000258104:p.Asp1230Asn	Somatic	0	37	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	61	21.79	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	61	0	0	70	22.83	21	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.D1261N	ENST00000258104.3	37	c.3781	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.460748	0.96240	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.971;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.81914	0.972;0.972;0.972;0.972;0.989;0.989;0.989;0.983;0.972;0.995;0.711;0.944;0.972;0.983	D	0.94081	0.7344	10	0.49607	T	0.09	-20.6742	17.2125	0.86935	0.0:0.0:1.0:0.0	.	1262;1248;1231;1217;1248;1217;1247;1216;1261;1247;1230;1216;1231;1230	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	N	1261;1247;1247;1230;1230;1262;1231;1217;1231;1248;1248	ENSP00000407046:D1261N;ENSP00000387137:D1247N;ENSP00000386547:D1247N;ENSP00000398305:D1230N;ENSP00000258104:D1230N;ENSP00000386683:D1262N;ENSP00000377678:D1231N;ENSP00000386285:D1217N;ENSP00000386512:D1231N;ENSP00000386881:D1248N;ENSP00000386617:D1248N	ENSP00000258104:D1230N	D	+	1	0	DYSF	71679369	1.000000	0.71417	0.990000	0.47175	0.936000	0.57629	9.598000	0.98277	2.670000	0.90874	0.650000	0.86243	GAC	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.612	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	G	NM_003494	-		71825861	1	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71825861	G	A	71825861	3	1	146	1	0	0	0	0	1	0	0	0	4861	1058	37	1	4010	1	DYSF	2	71825861	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	58945003	71825861	171373512	7	10804											
DNAH6	1768	genome.wustl.edu	37	chr2	84822877	84822877	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacccaacagtgtagtgccCcagctcaaatacaaggtgga	9	13	1	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr2:84822877C>A	ENST00000237449.6	+	17	2840	c.2832C>A	c.(2830-2832)ccC>ccA	p.P944P	DNAH6_ENST00000389394.3_Silent_p.P944P|DNAH6_ENST00000398278.2_Silent_p.P944P			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	944	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGTAGTGCCCCAGCTCAAAT	0.388																																																	0								ENSG00000115423						105	99	101					2																	84822877		692	1591	2283	DNAH6	SO:0001819	synonymous_variant	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2832C>A	2.37:g.84822877C>A		Somatic	0	15	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	47	32.86	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	30	0	0	61	32.97	30	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P944	ENST00000237449.6	37	c.2832	CCDS46348.1	2																																																																																			-	pfam_Dynein_heavy_dom-2		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	C	NM_001370	-		84822877	1	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	SNP	0.998	A	A	84822877	C	A	84822877	2	1	146	1	0	0	0	0	0	0	0	1	4607	610	22	3		3	DNAH6	2	84822877	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	12997016	84822877	158376496	8	10805											
LRP1B	53353	genome.wustl.edu	37	chr2	141201918	141201918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagtctctttcatcttcCtcatcaccacagtcatcttg	4	15	7	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr2:141201918C>T	ENST00000389484.3	-	65	11246	c.10275G>A	c.(10273-10275)gaG>gaA	p.E3425E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3425	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		TTTCATCTTCCTCATCACCAC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						220	206	210					2																	141201918		2203	4300	6503	LRP1B	SO:0001819	synonymous_variant	0			-	HGNC	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.10275G>A	2.37:g.141201918C>T		Somatic	0	17	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	21	47.50	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	19	0	0	21	47.50	19	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3425	ENST00000389484.3	37	c.10275	CCDS2182.1	2																																																																																			-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		141201918	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	0.985	T	T	141201918	C	T	141201918	2	4	146	1	0	0	0	0	0	0	0	1	8957	680	24	2		2	LRP1B	2	141201918	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	56379041	141201918	101997455	9	10806											
TTN	7273	genome.wustl.edu	37	chr2	179632770	179632770	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctgcagttcctggtcatcTttcatccactgtacagtgat	7	11	4	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr2:179632770T>A	ENST00000591111.1	-	39	9500	c.9276A>T	c.(9274-9276)aaA>aaT	p.K3092N	TTN_ENST00000342992.6_Missense_Mutation_p.K3092N|TTN_ENST00000460472.2_Missense_Mutation_p.K3046N|TTN_ENST00000360870.5_Missense_Mutation_p.K3092N|TTN_ENST00000359218.5_Missense_Mutation_p.K3046N|TTN_ENST00000589042.1_Missense_Mutation_p.K3092N|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K3046N			Q8WZ42	TITIN_HUMAN	titin	13424	Ig-like 18.				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)			CCTGGTCATCTTTCATCCACT	0.413																																																	0								ENSG00000155657						163	142	149					2																	179632770		2203	4300	6503	TTN	SO:0001583	missense	0			-	HGNC	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.9276A>T	2.37:g.179632770T>A	ENSP00000465570:p.Lys3092Asn	Somatic	0	22	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	27	55.74	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	37	0	0	29	43.14	22	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K3092N	ENST00000591111.1	37	c.9276		2	.	.	.	.	.	.	.	.	.	.	T	9.063	0.995017	0.19043	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.73	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38453	0.1041	H	0.96518	3.835	0.27189	N	0.960476	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.36529	-0.9744	9	0.87932	D	0	.	8.3771	0.32449	0.0:0.302:0.0:0.698	.	3046;3046;3046;3092;3092	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	3092;3046;3046;3046;3046;3092	ENSP00000343764:K3092N;ENSP00000434586:K3046N;ENSP00000340554:K3046N;ENSP00000352154:K3046N;ENSP00000354117:K3092N	ENSP00000340554:K3046N	K	-	3	2	TTN	179341015	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	0.871000	0.28023	0.532000	0.28657	0.533000	0.62120	AAA	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179632770	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179632770	T	A	179632770	3	1	146	1	0	0	0	0	1	0	0	0	16742	1606	56	5	102008	5	TTN	2	179632770	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09	38430852	179632770	63566603	10	10807											
MST1R	4486	genome.wustl.edu	37	chr3	49936073	49936073	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttaggcaacgcccacAggtcaggaagtggcggcagc	14	13	1	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr3:49936073A>T	ENST00000296474.3	-	4	1624	c.1597T>A	c.(1597-1599)Tgt>Agt	p.C533S	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.C533S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	533					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)		CAACGCCCACAGGTCAGGAAG	0.607																																																	0								ENSG00000164078						61	67	65					3																	49936073		2203	4300	6503	MST1R	SO:0001583	missense	0			-	HGNC	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.1597T>A	3.37:g.49936073A>T	ENSP00000296474:p.Cys533Ser	Somatic	0	62	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.29	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	61	0	0	45	10.00	5	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.C533S	ENST00000296474.3	37	c.1597	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	A	28.0	4.886226	0.91814	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.60171	0.21;0.21	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81408	0.4816	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	D	0.85767	0.1353	10	0.87932	D	0	-13.3639	16.2118	0.82165	1.0:0.0:0.0:0.0	.	427;533;533;533	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	S	533	ENSP00000296474:C533S;ENSP00000341325:C533S	ENSP00000296474:C533S	C	-	1	0	MST1R	49911077	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	8.290000	0.89925	2.234000	0.73211	0.402000	0.26972	TGT	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Plexin-like_fold,smart_Plexin-like_fold		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	A		-		49936073	-1	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49936073	A	T	49936073	3	4	146	1	0	0	0	0	1	0	0	0	9893	188	7	5	2673	5	MST1R	3	49936073	Missense_Mutation	SNP	A	TCGA-HB-A43Z-01A-11D-A24N-09		49936073	148086357	11	10808											
ANXA10	11199	genome.wustl.edu	37	chr4	169060727	169060727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcataccagagcatgtatgGccgggtaaggccactttatc	12	10	0	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr4:169060727G>A	ENST00000359299.3	+	3	377	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	64						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGCATGTATGGCCGGGTAAGG	0.423																																																	0								ENSG00000109511						92	89	90					4																	169060727		2203	4300	6503	ANXA10	SO:0001583	missense	0			-	HGNC	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.191G>A	4.37:g.169060727G>A	ENSP00000352248:p.Gly64Asp	Somatic	0	18	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	20	52.38	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	35	0	0	33	37.74	20	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.G64D	ENST00000359299.3	37	c.191	CCDS34096.1	4	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103486	0.56291	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.05319	3.46	5.8	5.8	0.92144	.	0.234460	0.38005	N	0.001842	T	0.21227	0.0511	M	0.74467	2.265	0.53688	D	0.999973	D	0.56968	0.978	P	0.54372	0.75	T	0.00051	-1.2193	10	0.87932	D	0	.	18.8252	0.92115	0.0:0.0:1.0:0.0	.	64	Q9UJ72	ANX10_HUMAN	D	64	ENSP00000352248:G64D	ENSP00000352248:G64D	G	+	2	0	ANXA10	169297302	1.000000	0.71417	0.983000	0.44433	0.011000	0.07611	6.576000	0.74023	2.758000	0.94735	0.561000	0.74099	GGC	-	pfam_Annexin_repeat,smart_Annexin_repeat		0.423	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	protein_coding	OTTHUMT00000364348.2	G	NM_007193	-		169060727	1	no_errors	ENST00000359299	ensembl	human	known	74_37	missense	SNP	0.998	A	A	169060727	G	A	169060727	3	1	146	1	0	0	0	0	1	0	0	0	715	1203	42	2	201	2	ANXA10	4	169060727	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		169060727	22093549	12	10809											
NKD2	85409	genome.wustl.edu	37	chr5	1036455	1036455	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcagaaaccactaccTggacctcgccgggattgaga	13	12	0	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr5:1036455T>A	ENST00000296849.5	+	9	972	c.743T>A	c.(742-744)cTg>cAg	p.L248Q	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Missense_Mutation_p.L248Q|NKD2_ENST00000537972.1_Missense_Mutation_p.L248Q	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	248					exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AACCACTACCTGGACCTCGCC	0.657																																																	0								ENSG00000145506						118	90	99					5																	1036455		2203	4300	6503	NKD2	SO:0001583	missense	0			-	HGNC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.743T>A	5.37:g.1036455T>A	ENSP00000296849:p.Leu248Gln	Somatic	0	126	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	74	26.73	Q96EK8|Q9BSN0	Missense_Mutation	SNP	24	0	0	30	26.83	11	pfscan_EF_hand_dom	p.L248Q	ENST00000296849.5	37	c.743	CCDS3859.1	5	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335383	0.81801	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.79141	-0.08;-1.24;-1.24	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000018	D	0.86883	0.6040	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87989	0.2748	10	0.87932	D	0	-15.5143	10.2059	0.43112	0.0:0.0:0.0:1.0	.	248;248	Q969F2-2;Q969F2	.;NKD2_HUMAN	Q	248	ENSP00000296849:L248Q;ENSP00000274150:L248Q;ENSP00000440925:L248Q	ENSP00000274150:L248Q	L	+	2	0	NKD2	1089455	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.428000	0.52792	1.668000	0.50843	0.402000	0.26972	CTG	-	NULL		0.657	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	protein_coding	OTTHUMT00000206720.2	T	NM_033120	-		1036455	1	no_errors	ENST00000296849	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1036455	T	A	1036455	3	1	146	1	0	0	0	0	1	0	0	0	10444	1580	55	5	777	5	NKD2	5	1036455	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09		1036455	179878805	13	10810											
DNAH5	1767	genome.wustl.edu	37	chr5	13769642	13769642	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcgttggccacttgtagctCcttttctttcgcttccagtt	7	12	1	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr5:13769642C>A	ENST00000265104.4	-	57	9792	c.9688G>T	c.(9688-9690)Gag>Tag	p.E3230*	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3230	Stalk. {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)					ACTTGTAGCTCCTTTTCTTTC	0.418									Kartagener syndrome																																								0								ENSG00000039139						277	238	251					5																	13769642		2203	4300	6503	DNAH5	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.9688G>T	5.37:g.13769642C>A	ENSP00000265104:p.Glu3230*	Somatic	0	83	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	101	32.67	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	25	0	0	53	28.38	21	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3230*	ENST00000265104.4	37	c.9688	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	52	20.006629	0.99926	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.77	5.77	0.91146	.	0.048483	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	3230	.	ENSP00000265104:E3230X	E	-	1	0	DNAH5	13822642	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.657000	0.83745	2.890000	0.99128	0.650000	0.86243	GAG	-	NULL		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	C	NM_001369	-		13769642	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	13769642	C	A	13769642	4	1	146	1	0	0	0	0	0	1	0	0	4606	864	30	3	4278	3	DNAH5	5	13769642	Nonsense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	12733187	13769642	167145618	14	10811											
PCDHA3	56145	genome.wustl.edu	37	chr5	140181783	140181783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccaatgtcagatcactGcacagttctactcgaaattg	6	13	3	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr5:140181783G>A	ENST00000522353.2	+	1	1001	c.1001G>A	c.(1000-1002)tGc>tAc	p.C334Y	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.C334Y|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	334	Cadherin 3. {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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGATCACTGCACAGTTCTA	0.383																																																	0								ENSG00000255408						177	175	176					5																	140181783		2203	4300	6503	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1001G>A	5.37:g.140181783G>A	ENSP00000429808:p.Cys334Tyr	Somatic	0	43	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	O75286	Missense_Mutation	SNP	42	0	0	55	30.38	24	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.C334Y	ENST00000522353.2	37	c.1001	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186303	0.38609	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.51817	0.69;0.69	4.79	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	U	0.000327	D	0.82577	0.5067	H	0.99130	4.44	0.32605	N	0.525399	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.91347	0.5101	10	0.87932	D	0	.	18.1862	0.89793	0.0:0.0:1.0:0.0	.	334;334	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Y	334	ENSP00000429808:C334Y;ENSP00000434086:C334Y	ENSP00000429808:C334Y	C	+	2	0	PCDHA3	140161967	0.992000	0.36948	1.000000	0.80357	0.528000	0.34623	3.404000	0.52623	2.378000	0.81104	0.467000	0.42956	TGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	G	NM_018906	-		140181783	1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140181783	G	A	140181783	3	1	146	1	0	0	0	0	1	0	0	0	11527	1319	46	2	1003	2	PCDHA3	5	140181783	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	126412141	140181783	40733477	15	10812											
MSX2	4488	genome.wustl.edu	37	chr5	174156457	174156457	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttcagtctccctttcccCatcagctcgcccctgcaggc	7	19	3	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr5:174156457C>A	ENST00000239243.6	+	2	802	c.675C>A	c.(673-675)ccC>ccA	p.P225P		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	225					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|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 (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCCTTTCCCCATCAGCTCGC	0.572																																																	0								ENSG00000120149						64	63	63					5																	174156457		2203	4300	6503	MSX2	SO:0001819	synonymous_variant	0			-	HGNC	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.675C>A	5.37:g.174156457C>A		Somatic	0	87	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	85	11.46	D3DQN1|Q53XM4|Q9UD60	Silent	SNP	56	0	0	48	15.79	9	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P225	ENST00000239243.6	37	c.675	CCDS4392.1	5																																																																																			-	NULL		0.572	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX2	protein_coding	OTTHUMT00000252981.3	C		-		174156457	1	no_errors	ENST00000239243	ensembl	human	known	74_37	silent	SNP	1.000	A	A	174156457	C	A	174156457	2	1	146	1	0	0	0	0	0	0	0	1	9898	581	21	3		3	MSX2	5	174156457	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	33974674	174156457	6758803	16	10813											
FAF2	23197	genome.wustl.edu	37	chr5	175919335	175919335	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaacgtacagccaggTcagtgccataaaccatatag	10	11	1	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr5:175919335T>A	ENST00000261942.6	+	5	536		c.e5+2			NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2						lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TACAGCCAGGTCAGTGCCATA	0.463																																																	0								ENSG00000113194						57	52	53					5																	175919335		2203	4300	6503	FAF2	SO:0001630	splice_region_variant	0			-	HGNC	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.483+2T>A	5.37:g.175919335T>A		Somatic	0	46	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	22	64.52	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Splice_Site	SNP	46	0	0	28	60.56	43	-	e5+2	ENST00000261942.6	37	c.483+2	CCDS34296.1	5	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300318	0.81136	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1055	0.81216	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAF2	175851941	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.619000	0.83057	2.252000	0.74401	0.533000	0.62120	.	-	-		0.463	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF2	protein_coding	OTTHUMT00000372194.1	T	NM_014613	-	Intron	175919335	1	no_errors	ENST00000261942	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	175919335	T	A	175919335	5	1	146	1	0	0	0	0	0	0	1	0	5372	1681	58	5	503	5	FAF2	5	175919335	Splice_Site	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09	1762878	175919335	4995925	17	10814											
AGXT2L2	85007	genome.wustl.edu	37	chr5	177651522	177651522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggccatagctgggttggggTggtcctcccggtaggggccc	18	11	0	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr5:177651522T>A	ENST00000308158.5	-	6	779	c.545A>T	c.(544-546)cAc>cTc	p.H182L	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	182						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TGGGTTGGGGTGGTCCTCCCG	0.632																																																	0								ENSG00000175309						102	89	93					5																	177651522		2203	4300	6503	PHYKPL	SO:0001583	missense	0			-	HGNC	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.545A>T	5.37:g.177651522T>A	ENSP00000310978:p.His182Leu	Somatic	0	79	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	31	65.56	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	54	0	0	18	65.38	34	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.H182L	ENST00000308158.5	37	c.545	CCDS4434.1	5	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164669	0.38217	.	.	ENSG00000175309	ENST00000308158;ENST00000323594	T;T	0.38887	2.15;1.11	6.06	4.88	0.63580	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	L	0.43152	1.355	0.80722	D	1	B;B	0.28208	0.05;0.203	B;B	0.34722	0.093;0.188	T	0.09487	-1.0672	10	0.18276	T	0.48	-14.3095	10.3566	0.43967	0.0:0.0:0.1649:0.8351	.	182;182	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	L	182;196	ENSP00000310978:H182L;ENSP00000321290:H196L	ENSP00000310978:H182L	H	-	2	0	AGXT2L2	177584128	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.875000	0.69660	1.094000	0.41399	0.533000	0.62120	CAC	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase		0.632	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYKPL	protein_coding	OTTHUMT00000253477.1	T	NM_032921	-		177651522	-1	no_errors	ENST00000308158	ensembl	human	known	74_37	missense	SNP	1.000	A	A	177651522	T	A	177651522	3	1	146	1	0	0	0	0	1	0	0	0	407	1696	59	5	835	5	AGXT2L2	5	177651522	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09	1732187	177651522	3263738	18	10815											
KIF6	221458	genome.wustl.edu	37	chr6	39353432	39353432	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtatatgccgctgggtgatTtcttccttcaggtgacctgc	11	10	2	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr6:39353432T>A	ENST00000287152.7	-	16	1921	c.1827A>T	c.(1825-1827)gaA>gaT	p.E609D	KIF6_ENST00000373213.4_Missense_Mutation_p.E448D|KIF6_ENST00000541946.1_Missense_Mutation_p.E60D|KIF6_ENST00000373216.3_Missense_Mutation_p.E609D|KIF6_ENST00000394362.1_Missense_Mutation_p.E60D|KIF6_ENST00000229913.5_Missense_Mutation_p.E60D|KIF6_ENST00000538893.1_Missense_Mutation_p.E553D|KIF6_ENST00000373215.3_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	609					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCTGGGTGATTTCTTCCTTCA	0.463																																																	0								ENSG00000164627						116	109	111					6																	39353432		2203	4300	6503	KIF6	SO:0001583	missense	0			-	HGNC	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1827A>T	6.37:g.39353432T>A	ENSP00000287152:p.Glu609Asp	Somatic	0	73	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	40	41.18	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	47	0	0	16	40.74	11	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E609D	ENST00000287152.7	37	c.1827	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.76|13.76	2.332428|2.332428	0.41297|0.41297	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362|ENST00000458470	T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.53|5.53	-5.62|-5.62	0.02481|0.02481	.|.	.|.	.|.	.|.	.|.	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.42245|0.42245	1.32|1.32	0.23559|0.23559	N|N	0.997416|0.997416	B;B;P|.	0.34522|.	0.003;0.002;0.455|.	B;B;B|.	0.29353|.	0.002;0.005;0.101|.	T|T	0.33650|0.33650	-0.9860|-0.9860	9|5	0.23891|.	T|.	0.37|.	.|.	7.6908|7.6908	0.28567|0.28567	0.0:0.3857:0.3535:0.2608|0.0:0.3857:0.3535:0.2608	.|.	553;609;609|.	F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	D|I	609;60;609;448;60;553;60;60|501	ENSP00000287152:E609D;ENSP00000377889:E60D;ENSP00000362312:E609D;ENSP00000362309:E448D;ENSP00000229913:E60D;ENSP00000441435:E553D;ENSP00000439064:E60D|.	ENSP00000229913:E60D|.	E|K	-|-	3|2	2|0	KIF6|KIF6	39461410|39461410	0.967000|0.967000	0.33354|0.33354	0.076000|0.076000	0.20297|0.20297	0.957000|0.957000	0.61999|0.61999	-0.043000|-0.043000	0.12043|0.12043	-1.179000|-1.179000	0.02737|0.02737	-0.424000|-0.424000	0.05967|0.05967	GAA|AAA	-	NULL		0.463	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	protein_coding	OTTHUMT00000040455.2	T	NM_145027	-		39353432	-1	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	SNP	0.602	A	A	39353432	T	A	39353432	3	1	146	1	0	0	0	0	1	0	0	0	8310	1838	64	5	649	5	KIF6	6	39353432	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09		39353432	131761635	19	10816											
PPP1R14C	81706	genome.wustl.edu	37	chr6	150464569	150464569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatacgatcgtaaggagCttcggaagcggctggtgctg	15	7	0	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr6:150464569C>G	ENST00000361131.4	+	1	358	c.241C>G	c.(241-243)Ctt>Gtt	p.L81V		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	81					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCGTAAGGAGCTTCGGAAGCG	0.662																																					Melanoma(165;1879 1941 2052 16588 48349)												0								ENSG00000198729						40	41	41					6																	150464569		2203	4300	6503	PPP1R14C	SO:0001583	missense	0			-	HGNC	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.241C>G	6.37:g.150464569C>G	ENSP00000355260:p.Leu81Val	Somatic	0	78	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	100	15.97	Q5VY83|Q96BB1|Q9H277	Missense_Mutation	SNP	43	2.27	1	79	16.84	16	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.L81V	ENST00000361131.4	37	c.241	CCDS5226.1	6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744101	0.89663	.	.	ENSG00000198729	ENST00000361131	T	0.57436	0.4	3.99	3.99	0.46301	.	0.381527	0.27495	N	0.019120	T	0.67097	0.2857	M	0.78223	2.4	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.73892	-0.3839	10	0.87932	D	0	-30.0588	15.5247	0.75894	0.0:1.0:0.0:0.0	.	81	Q8TAE6	PP14C_HUMAN	V	81	ENSP00000355260:L81V	ENSP00000355260:L81V	L	+	1	0	PPP1R14C	150506262	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.988000	0.76212	1.922000	0.55676	0.632000	0.83419	CTT	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor		0.662	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14C	protein_coding	OTTHUMT00000042685.1	C	NM_030949	-		150464569	1	no_errors	ENST00000361131	ensembl	human	known	74_37	missense	SNP	1.000	G	G	150464569	C	G	150464569	3	3	146	1	0	0	0	0	1	0	0	0	12366	797	28	4	243	4	PPP1R14C	6	150464569	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	111111137	150464569	20650498	20	10817											
ABCA13	154664	genome.wustl.edu	37	chr7	48467363	48467363	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttttttttctccgaaagGtgtttttgatgcttttgcaa	8	6	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr7:48467363G>A	ENST00000435803.1	+	42	12484	c.12460G>A	c.(12460-12462)Gtg>Atg	p.V4154M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4154					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTCCGAAAGGTGTTTTTGAT	0.418																																																	0								ENSG00000179869						46	43	44					7																	48467363		1835	4097	5932	ABCA13	SO:0001630	splice_region_variant	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12460-1G>A	7.37:g.48467363G>A		Somatic	0	29	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	24	0	0	60	33.33	30	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V4154M	ENST00000435803.1	37	c.12460	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922112	0.52653	.	.	ENSG00000179869	ENST00000435803	D	0.89485	-2.52	4.74	3.86	0.44501	.	0.161807	0.29040	N	0.013326	D	0.94778	0.8314	H	0.94385	3.53	0.80722	D	1	D;D	0.63880	0.982;0.993	D;P	0.63192	0.912;0.851	D	0.94804	0.7973	9	.	.	.	.	9.2917	0.37791	0.0993:0.0:0.9007:0.0	.	1856;4154	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	M	4154	ENSP00000411096:V4154M	.	V	+	1	0	ABCA13	48437909	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.437000	0.44828	1.351000	0.45789	-0.123000	0.14984	GTG	-	NULL		0.418	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-	Missense_Mutation	48467363	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48467363	G	A	48467363	5	1	146	1	0	0	0	0	0	0	1	0	31	1275	44	2	12455	2	ABCA13	7	48467363	Splice_Site	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		48467363	110671300	21	10818											
CCDC146	57639	genome.wustl.edu	37	chr7	76916777	76916777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggaactacaactggccaaGaaggaggagaagctgctgga	14	8	0	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr7:76916777G>A	ENST00000285871.4	+	17	2425	c.2298G>A	c.(2296-2298)aaG>aaA	p.K766K	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.K480K	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	766										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AACTGGCCAAGAAGGAGGAGA	0.433																																																	0								ENSG00000135205						86	86	86					7																	76916777		2203	4300	6503	CCDC146	SO:0001819	synonymous_variant	0			-	HGNC	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2298G>A	7.37:g.76916777G>A		Somatic	0	22	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	A8K8X6|Q9P223	Silent	SNP	34	0	0	28	15.15	5	NULL	p.K766	ENST00000285871.4	37	c.2298	CCDS34671.1	7																																																																																			-	NULL		0.433	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	protein_coding	OTTHUMT00000341449.1	G	NM_020879	-		76916777	1	no_errors	ENST00000285871	ensembl	human	known	74_37	silent	SNP	1.000	A	A	76916777	G	A	76916777	2	1	146	1	0	0	0	0	0	0	0	1	2782	933	33	2		2	CCDC146	7	76916777	Silent	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	28449414	76916777	82221886	22	10819											
TRRAP	8295	genome.wustl.edu	37	chr7	98601869	98601869	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatcttatttctaagttgAaaaagtggatcaaaatcttg	6	4	4	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr7:98601869A>C	ENST00000359863.4	+	67	10533	c.10324A>C	c.(10324-10326)Aaa>Caa	p.K3442Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.K3431Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.K3413Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3442					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTAAGTTGAAAAAGTGGAT	0.388																																																	0								ENSG00000196367						86	98	94					7																	98601869		2203	4299	6502	TRRAP	SO:0001583	missense	0			-	HGNC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10324A>C	7.37:g.98601869A>C	ENSP00000352925:p.Lys3442Gln	Somatic	0	67	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	85	0	0	22	48.84	21	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.K3442Q	ENST00000359863.4	37	c.10324	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.603763|4.603763	0.87157|0.87157	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.80738|.	-1.41;-1.41|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74129|.	0.3676|.	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.983;0.983|.	T|.	0.75207|.	-0.3399|.	10|.	0.49607|.	T|.	0.09|.	.|.	14.8596|14.8596	0.70369|0.70369	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3413;3170;3442|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|C	3442;3413;3430|3170	ENSP00000352925:K3442Q;ENSP00000347733:K3413Q|.	ENSP00000347733:K3413Q|.	K|X	+|+	1|3	0|0	TRRAP|TRRAP	98439805|98439805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.339000|9.339000	0.96797|0.96797	1.916000|1.916000	0.55485|0.55485	0.528000|0.528000	0.53228|0.53228	AAA|TGA	-	superfamily_Kinase-like_dom		0.388	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	A	NM_003496	-		98601869	1	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	SNP	1.000	C	C	98601869	A	C	98601869	3	2	146	1	0	0	0	0	1	0	0	0	16608	247	9	5	10495	5	TRRAP	7	98601869	Missense_Mutation	SNP	A	TCGA-HB-A43Z-01A-11D-A24N-09	21685092	98601869	60536794	23	10820											
ZFPM2	23414	genome.wustl.edu	37	chr8	106814477	106814477	+	Missense_Mutation	SNP	T	T	C													ctccactgaagaggtctgctTccaacaaagtgcctgccatg							TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr8:106814477T>C	ENST00000407775.2	+	8	2417	c.2167T>C	c.(2167-2169)Tcc>Ccc	p.S723P	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S591P|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S591P|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S454P|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	723					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGGTCTGCTTCCAACAAAGT	0.517																																																	0								ENSG00000169946						54	52	53					8																	106814477		2096	4221	6317	ZFPM2	SO:0001583	missense	0			-	HGNC	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2167T>C	8.37:g.106814477T>C	ENSP00000384179:p.Ser723Pro	Somatic	0	13	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	19	0	0	40	36.51	23	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S723P	ENST00000407775.2	37	c.2167	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030739	0.35797	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20332	2.08;2.56;2.56;3.77	5.72	5.72	0.89469	.	0.263389	0.44902	D	0.000411	T	0.11836	0.0288	N	0.14661	0.345	0.44302	D	0.997178	P	0.44195	0.828	B	0.37650	0.255	T	0.17198	-1.0377	10	0.23891	T	0.37	.	11.9288	0.52835	0.0:0.0:0.1451:0.8549	.	723	Q8WW38	FOG2_HUMAN	P	723;591;591;454	ENSP00000384179:S723P;ENSP00000430757:S591P;ENSP00000428720:S591P;ENSP00000367733:S454P	ENSP00000367733:S454P	S	+	1	0	ZFPM2	106883653	0.978000	0.34361	1.000000	0.80357	0.994000	0.84299	1.080000	0.30779	2.186000	0.69663	0.459000	0.35465	TCC	-	NULL		0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	T		-		106814477	1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	SNP	1.000	C	C	106814477	T	C	106814477	3	2	146	1	0	0	0	0	1	0	0	0	17665	1783	62	5	2197	5	ZFPM2	8	106814477	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09		106814477	39549545	24	10821	176	2									
ZFPM2	23414	genome.wustl.edu	37	chr8	106814478	106814478	+	Missense_Mutation	SNP	C	C	T													tccactgaagaggtctgcttCcaacaaagtgcctgccatgc					rs267601701		TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr8:106814478C>T	ENST00000407775.2	+	8	2418	c.2168C>T	c.(2167-2169)tCc>tTc	p.S723F	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S591F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S591F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S454F|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	723					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGTCTGCTTCCAACAAAGTG	0.517																																																	0								ENSG00000169946						54	52	52					8																	106814478		2096	4219	6315	ZFPM2	SO:0001583	missense	0			-	HGNC	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2168C>T	8.37:g.106814478C>T	ENSP00000384179:p.Ser723Phe	Somatic	0	14	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	19	0	0	38	37.70	23	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S723F	ENST00000407775.2	37	c.2168	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354493	0.61293	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20598	2.06;2.54;2.54;3.75	5.72	5.72	0.89469	.	0.263389	0.44902	D	0.000411	T	0.21631	0.0521	L	0.29908	0.895	0.51012	D	0.999904	D	0.57899	0.981	P	0.44597	0.454	T	0.00697	-1.1605	10	0.33940	T	0.23	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	723	Q8WW38	FOG2_HUMAN	F	723;591;591;454	ENSP00000384179:S723F;ENSP00000430757:S591F;ENSP00000428720:S591F;ENSP00000367733:S454F	ENSP00000367733:S454F	S	+	2	0	ZFPM2	106883654	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.860000	0.62961	2.708000	0.92522	0.561000	0.74099	TCC	-	NULL		0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	C		-		106814478	1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	SNP	1.000	T	T	106814478	C	T	106814478	3	4	146	1	0	0	0	0	1	0	0	0	17665	855	30	2	2198	2	ZFPM2	8	106814478	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	1	106814478	39549544	25	10822	176	2									
SLC28A3	64078	genome.wustl.edu	37	chr9	86909133	86909133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaataatccactgcatcaGtcccaggtagtacagcatgg	8	11	2	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr9:86909133G>A	ENST00000376238.4	-	9	968	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	SLC28A3_ENST00000537648.1_Silent_p.L238L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	307					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CACTGCATCAGTCCCAGGTAG	0.493																																					Ovarian(106;425 1539 34835 42413 43572)												0								ENSG00000197506						177	159	165					9																	86909133		2203	4300	6503	SLC28A3	SO:0001819	synonymous_variant	0			-	HGNC	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.919C>T	9.37:g.86909133G>A		Somatic	0	95	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	64	28.57	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	51	0	0	32	33.33	16	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.L307	ENST00000376238.4	37	c.919	CCDS6670.1	9																																																																																			-	pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac		0.493	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	protein_coding	OTTHUMT00000052874.1	G	NM_022127	-		86909133	-1	no_errors	ENST00000376238	ensembl	human	known	74_37	silent	SNP	0.000	A	A	86909133	G	A	86909133	2	1	146	1	0	0	0	0	0	0	0	1	14541	1020	36	2		2	SLC28A3	9	86909133	Silent	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		86909133	54304298	26	10823											
AUH	549	genome.wustl.edu	37	chr9	94058337	94058337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgccaattttgtttcaacCaggcccatttttgcagagga	8	10	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr9:94058337C>T	ENST00000375731.4	-	6	644	c.621G>A	c.(619-621)ctG>ctA	p.L207L	AUH_ENST00000422391.2_Silent_p.L207L|AUH_ENST00000478465.1_5'Flank|AUH_ENST00000303617.5_Silent_p.L178L	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	207					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTGTTTCAACCAGGCCCATTT	0.373																																																	0								ENSG00000148090						108	92	97					9																	94058337		2203	4300	6503	AUH	SO:0001819	synonymous_variant	0			-	HGNC	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"AU RNA-binding protein/enoyl-Coenzyme A hydratase", "AU RNA binding protein/enoyl-Coenzyme A hydratase"			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.621G>A	9.37:g.94058337C>T		Somatic	0	21	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	B1ALV7|B1ALV8|Q8WUE4	Silent	SNP	35	0	0	36	38.98	23	pfam_Crotonase_core_superfam	p.L207	ENST00000375731.4	37	c.621	CCDS6689.1	9																																																																																			-	pfam_Crotonase_core_superfam		0.373	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUH	protein_coding	OTTHUMT00000053032.1	C		-		94058337	-1	no_errors	ENST00000375731	ensembl	human	known	74_37	silent	SNP	1.000	T	T	94058337	C	T	94058337	2	4	146	1	0	0	0	0	0	0	0	1	1219	581	21	2		2	AUH	9	94058337	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	7149204	94058337	47155094	27	10824											
DFNB31	25861	genome.wustl.edu	37	chr9	117228594	117228594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggtccacgccagtgaTgtaaatgccaaggccgtact	12	12	0	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr9:117228594T>C	ENST00000362057.3	-	3	1084	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	306	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGCCAGTGATGTAAATGCCA	0.617																																																	0								ENSG00000095397						87	82	84					9																	117228594		2203	4300	6503	DFNB31	SO:0001583	missense	0			-	HGNC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.916A>G	9.37:g.117228594T>C	ENSP00000354623:p.Ile306Val	Somatic	0	61	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	71	8.97	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	58	0	0	50	0.00	0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I306V	ENST00000362057.3	37	c.916	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	T	10.40	1.338931	0.24253	.	.	ENSG00000095397	ENST00000362057	T	0.14640	2.49	5.01	-0.12	0.13539	PDZ/DHR/GLGF (4);	0.153535	0.56097	N	0.000023	T	0.06325	0.0163	N	0.11892	0.195	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.15870	0.014;0.014	T	0.40478	-0.9561	10	0.16896	T	0.51	-16.563	9.7665	0.40563	0.0:0.1293:0.0:0.8707	.	306;306	B9EGE6;Q9P202	.;WHRN_HUMAN	V	306	ENSP00000354623:I306V	ENSP00000354623:I306V	I	-	1	0	DFNB31	116268415	1.000000	0.71417	0.958000	0.39756	0.902000	0.53008	1.184000	0.32053	-0.193000	0.10415	0.402000	0.26972	ATC	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.617	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	T	NM_015404	-		117228594	-1	no_errors	ENST00000362057	ensembl	human	known	74_37	missense	SNP	1.000	C	C	117228594	T	C	117228594	3	2	146	1	0	0	0	0	1	0	0	0	4457	1464	51	5	1847	5	DFNB31	9	117228594	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09	23170257	117228594	23984837	28	10825											
PAPPA	5069	genome.wustl.edu	37	chr9	119065139	119065139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctacacgccccagggattCctggatcagtgggcatccaa	11	13	2	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr9:119065139C>T	ENST00000328252.3	+	10	3426	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Silent_p.F57F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1019					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCAGGGATTCCTGGATCAGT	0.517																																																	0								ENSG00000182752						125	109	114					9																	119065139		2203	4300	6503	PAPPA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3057C>T	9.37:g.119065139C>T		Somatic	0	50	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	28	0	0	47	25.40	16	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.F1019	ENST00000328252.3	37	c.3057	CCDS6813.1	9																																																																																			-	NULL		0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	C	NM_002581	-		119065139	1	no_errors	ENST00000328252	ensembl	human	known	74_37	silent	SNP	1.000	T	T	119065139	C	T	119065139	2	4	146	1	0	0	0	0	0	0	0	1	11434	854	30	2		2	PAPPA	9	119065139	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	1836545	119065139	22148292	29	10826											
FAM129B	64855	genome.wustl.edu	37	chr9	130279234	130279234	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gctgcacctgctgcaccttgGacagcacctcctcgaagcgc	10	17	0	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr9:130279234G>C	ENST00000373312.3	-	8	1088	c.875C>G	c.(874-876)tCc>tGc	p.S292C	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.S279C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	292					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTGCACCTTGGACAGCACCTC	0.602																																																	0								ENSG00000136830						179	163	168					9																	130279234		2203	4300	6503	FAM129B	SO:0001583	missense	0			-	HGNC	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.875C>G	9.37:g.130279234G>C	ENSP00000362409:p.Ser292Cys	Somatic	0	105	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	58	21.62	Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	63	0	0	49	25.76	17	pfscan_Pleckstrin_homology	p.S292C	ENST00000373312.3	37	c.875	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	G	6.719	0.501339	0.12822	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.23950	1.88;1.88	4.87	2.98	0.34508	.	1.243180	0.05188	N	0.502531	T	0.21227	0.0511	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.28808	-1.0032	10	0.49607	T	0.09	-11.1535	3.4763	0.07586	0.0949:0.1761:0.5605:0.1685	.	279;292	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	C	279;292	ENSP00000362411:S279C;ENSP00000362409:S292C	ENSP00000362409:S292C	S	-	2	0	FAM129B	129319055	0.859000	0.29813	0.662000	0.29724	0.004000	0.04260	4.264000	0.58859	0.444000	0.26612	-0.140000	0.14226	TCC	-	NULL		0.602	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	protein_coding	OTTHUMT00000054196.1	G	NM_022833	-		130279234	-1	no_errors	ENST00000373312	ensembl	human	known	74_37	missense	SNP	0.114	C	C	130279234	G	C	130279234	3	2	146	1	0	0	0	0	1	0	0	0	5439	1174	41	4	1393	4	FAM129B	9	130279234	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	11214095	130279234	10934197	30	10827											
CACNA1B	774	genome.wustl.edu	37	chr9	140943767	140943767	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggtggcgtttgctttctCgtaagtaacgttcgctctgc	11	11	2	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	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_ENST00000371363.1_Splice_Site_p.S1237L|CACNA1B_ENST00000371357.1_Splice_Site_p.S1238L|CACNA1B_ENST00000277549.5_Splice_Site_p.S429L|CACNA1B_ENST00000371355.4_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																																																	0								ENSG00000148408						125	121	122					9																	140943767		2070	4206	6276	CACNA1B	SO:0001630	splice_region_variant	0			-	HGNC	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		Somatic	0	223	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	128	19.88	B1AQK5	Missense_Mutation	SNP	72	0	0	37	21.28	10	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.S1238L	ENST00000371372.1	37	c.3713	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	-	pfam_Ion_trans_dom		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	140943767	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140943767	C	T	140943767	5	4	146	1	0	0	0	0	0	0	1	0	2541	898	31	1	3804	1	CACNA1B	9	140943767	Splice_Site	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	10664533	140943767	269664	31	10828											
KRTAP5-3	387266	genome.wustl.edu	37	chr11	1629046	1629046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgggaacagcagggtttGcagcagctggactggcagca	16	9	0	0	rs12808755		TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr11:1629046G>A	ENST00000399685.1	-	1	647	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	190	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagggtttgcagcagctgg	0.622																																																	0								ENSG00000196224						161	162	162					11																	1629046		2202	4290	6492	KRTAP5-3	SO:0001819	synonymous_variant	0			-	HGNC	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.570C>T	11.37:g.1629046G>A		Somatic	1	185	0.54		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	Q6PL44|Q701N3	Silent	SNP	20	0	0	3	0.00	0	NULL	p.C190	ENST00000399685.1	37	c.570	CCDS41591.1	11																																																																																			-	NULL		0.622	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	protein_coding	OTTHUMT00000127924.1	G		rs12808755		1629046	-1	no_errors	ENST00000399685	ensembl	human	known	74_37	silent	SNP	0.064	A	A	1629046	G	A	1629046	2	1	146	1	0	0	0	0	0	0	0	1	8564	1311	46	2		2	KRTAP5-3	11	1629046	Silent	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		1629046	133377470	32	10829											
TMEM134	80194	genome.wustl.edu	37	chr11	67234816	67234816	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggagcaggaaggaggccaGcaccactcggcggttcttct	14	12	2	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr11:67234816G>C	ENST00000308022.2	-	4	414	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	TMEM134_ENST00000452789.2_Missense_Mutation_p.L116V|TMEM134_ENST00000393877.3_Missense_Mutation_p.L125V|TMEM134_ENST00000541059.1_5'UTR	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	125						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						AAGGAGGCCAGCACCACTCGG	0.647																																																	0								ENSG00000172663						50	54	52					11																	67234816		2200	4295	6495	TMEM134	SO:0001583	missense	0			-	HGNC	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.373C>G	11.37:g.67234816G>C	ENSP00000312615:p.Leu125Val	Somatic	0	145	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	Q08AK4|Q6PJN3	Missense_Mutation	SNP	61	0	0	21	48.78	20	pfam_DUF872_TM	p.L125V	ENST00000308022.2	37	c.373	CCDS8167.1	11	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684407	0.47991	.	.	ENSG00000172663	ENST00000393877;ENST00000308022;ENST00000452789;ENST00000544903	.	.	.	4.37	4.37	0.52481	.	0.093398	0.44483	D	0.000456	T	0.70107	0.3186	L	0.59436	1.845	0.36666	D	0.878218	D;D;D;D	0.63046	0.99;0.987;0.974;0.992	P;P;D;D	0.76071	0.829;0.738;0.953;0.987	T	0.75451	-0.3313	9	0.46703	T	0.11	.	12.4003	0.55410	0.0:0.0:1.0:0.0	.	116;125;125;125	B4DLG6;Q9H6X4-3;Q9H6X4-2;Q9H6X4	.;.;.;TM134_HUMAN	V	125;125;116;166	.	ENSP00000312615:L125V	L	-	1	2	TMEM134	66991392	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.437000	0.34991	1.992000	0.58205	0.289000	0.19496	CTG	-	pfam_DUF872_TM		0.647	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	protein_coding	OTTHUMT00000398994.1	G	NM_025124	-		67234816	-1	no_errors	ENST00000545682	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67234816	G	C	67234816	3	2	146	1	0	0	0	0	1	0	0	0	16057	962	34	4	230	4	TMEM134	11	67234816	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	65605770	67234816	67771700	33	10830											
PDE2A	5138	genome.wustl.edu	37	chr11	72292940	72292940	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgggccagggtcgggcagtCaattttgtagttgttgatga	15	7	1	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr11:72292940C>T	ENST00000334456.5	-	22	2148	c.1903G>A	c.(1903-1905)Gac>Aac	p.D635N	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Missense_Mutation_p.D626N|PDE2A_ENST00000376450.3_Missense_Mutation_p.D379N|PDE2A_ENST00000540345.1_Missense_Mutation_p.D626N|PDE2A_ENST00000544570.1_Missense_Mutation_p.D628N|PDE2A_ENST00000418754.2_Missense_Mutation_p.D520N	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	635	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GTCGGGCAGTCAATTTTGTAG	0.582																																																	0								ENSG00000186642						77	78	78					11																	72292940		2200	4293	6493	PDE2A	SO:0001583	missense	0			-	HGNC	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1903G>A	11.37:g.72292940C>T	ENSP00000334910:p.Asp635Asn	Somatic	0	43	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	81	0	0	66	0.00	0	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D635N	ENST00000334456.5	37	c.1903	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668481	0.67814	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.71	5.71	0.89125	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.132994	0.48286	D	0.000193	T	0.70622	0.3245	L	0.41824	1.3	0.51482	D	0.999925	B;B;B;B;B;B	0.24675	0.005;0.005;0.01;0.109;0.005;0.001	B;B;B;B;B;B	0.12837	0.004;0.002;0.002;0.008;0.002;0.002	T	0.65800	-0.6080	10	0.37606	T	0.19	.	16.5862	0.84727	0.0:1.0:0.0:0.0	.	520;635;626;628;635;379	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	N	635;379;626;704;628;520;626;14;176;66	ENSP00000334910:D635N;ENSP00000365633:D379N;ENSP00000411657:D626N;ENSP00000442256:D628N;ENSP00000410310:D520N;ENSP00000446399:D626N;ENSP00000388997:D14N;ENSP00000392457:D176N;ENSP00000440834:D66N	ENSP00000334910:D635N	D	-	1	0	PDE2A	71970588	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	7.040000	0.76551	2.711000	0.92665	0.563000	0.77884	GAC	-	NULL		0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	protein_coding	OTTHUMT00000219839.2	C	NM_002599	-		72292940	-1	no_errors	ENST00000334456	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72292940	C	T	72292940	3	4	146	1	0	0	0	0	1	0	0	0	11638	826	29	2	962	2	PDE2A	11	72292940	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	5058124	72292940	62713576	34	10831											
SERPINH1	871	genome.wustl.edu	37	chr11	75277570	75277570	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgtaccaggccatggCcaaggaccaggcagtggaga	14	11	0	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr11:75277570C>G	ENST00000524558.1	+	2	1611	c.176C>G	c.(175-177)gCc>gGc	p.A59G	SERPINH1_ENST00000533603.1_Missense_Mutation_p.A59G|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Missense_Mutation_p.A59G|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A59G			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	59					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CAGGCCATGGCCAAGGACCAG	0.692																																																	0								ENSG00000149257						48	34	38					11																	75277570		2200	4292	6492	SERPINH1	SO:0001583	missense	0			-	HGNC	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.176C>G	11.37:g.75277570C>G	ENSP00000434412:p.Ala59Gly	Somatic	0	60	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	31.15	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	64	0	0	58	20.55	15	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A59G	ENST00000524558.1	37	c.176	CCDS8239.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166501	0.78339	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526242;ENST00000526397;ENST00000421448;ENST00000529643;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000528990;ENST00000533449;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.76	4.76	0.60689	Serpin domain (3);	0.055117	0.64402	D	0.000001	D	0.86669	0.5988	L	0.41415	1.275	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.62560	0.841;0.904	T	0.82995	-0.0180	10	0.17832	T	0.49	.	15.3136	0.74056	0.0:1.0:0.0:0.0	.	59;59	E9PPV6;P50454	.;SERPH_HUMAN	G	59;59;34;59;59;59;59;59;59;59;59;59;59	ENSP00000434657:A59G;ENSP00000350894:A59G;ENSP00000431384:A34G;ENSP00000434964:A59G;ENSP00000435936:A59G;ENSP00000436305:A59G;ENSP00000436040:A59G;ENSP00000434412:A59G;ENSP00000431827:A59G;ENSP00000435452:A59G;ENSP00000437108:A59G	ENSP00000350894:A59G	A	+	2	0	SERPINH1	74955218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.569000	0.82380	2.470000	0.83445	0.563000	0.77884	GCC	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.692	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINH1	protein_coding	OTTHUMT00000383610.1	C	NM_004353	-		75277570	1	no_errors	ENST00000358171	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75277570	C	G	75277570	3	3	146	1	0	0	0	0	1	0	0	0	14125	739	26	4	178	4	SERPINH1	11	75277570	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	2984630	75277570	59728946	35	10832											
PDGFD	80310	genome.wustl.edu	37	chr11	103870794	103870794	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttacctacagatatcatttTctgcttcctctaatccaaac	2	13	3	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr11:103870794T>A	ENST00000393158.2	-	2	493	c.314A>T	c.(313-315)gAa>gTa	p.E105V	PDGFD_ENST00000302251.5_Missense_Mutation_p.E99V			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	105	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GATATCATTTTCTGCTTCCTC	0.388																																																	0								ENSG00000170962						91	95	93					11																	103870794		2202	4299	6501	PDGFD	SO:0001583	missense	0			-	HGNC	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.314A>T	11.37:g.103870794T>A	ENSP00000376865:p.Glu105Val	Somatic	0	34	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	61	24.69	A8K9T6|Q9BWV5	Missense_Mutation	SNP	26	0	0	68	16.05	13	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.E105V	ENST00000393158.2	37	c.314	CCDS41703.1	11	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869027	0.72065	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.19669	2.13;2.13;2.13	5.55	5.55	0.83447	CUB (5);	0.099520	0.64402	N	0.000002	T	0.46151	0.1378	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	T	0.42982	-0.9419	10	0.66056	D	0.02	-21.8971	15.9696	0.80004	0.0:0.0:0.0:1.0	.	105;99	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	V	105;99;128	ENSP00000376865:E105V;ENSP00000302193:E99V;ENSP00000432909:E128V	ENSP00000302193:E99V	E	-	2	0	PDGFD	103376004	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.803000	0.69129	2.231000	0.72958	0.459000	0.35465	GAA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.388	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDGFD	protein_coding	OTTHUMT00000387231.2	T	NM_025208	-		103870794	-1	no_errors	ENST00000393158	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103870794	T	A	103870794	3	1	146	1	0	0	0	0	1	0	0	0	11662	1783	62	5	822	5	PDGFD	11	103870794	Missense_Mutation	SNP	T	TCGA-HB-A43Z-01A-11D-A24N-09	28593224	103870794	31135722	36	10833											
ACACB	32	genome.wustl.edu	37	chr12	109631470	109631470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggccaggtcctcccagCggattcactactgaacctcg	11	15	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr12:109631470C>T	ENST00000338432.7	+	16	2536	c.2417C>T	c.(2416-2418)gCg>gTg	p.A806V	ACACB_ENST00000377848.3_Missense_Mutation_p.A806V|ACACB_ENST00000377854.5_Missense_Mutation_p.A806V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	806					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GTCCTCCCAGCGGATTCACTA	0.493																																																	0								ENSG00000076555						79	76	77					12																	109631470		2203	4300	6503	ACACB	SO:0001583	missense	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2417C>T	12.37:g.109631470C>T	ENSP00000341044:p.Ala806Val	Somatic	0	67	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	52	0	0	70	0.00	0	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A806V	ENST00000338432.7	37	c.2417	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607950	0.66558	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.95756	-3.8;-3.8;-3.8	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	L	0.60455	1.87	0.80722	D	1	D	0.61080	0.989	P	0.52856	0.711	D	0.95584	0.8649	10	0.46703	T	0.11	.	18.133	0.89608	0.0:1.0:0.0:0.0	.	806	O00763	ACACB_HUMAN	V	806;806;806;37	ENSP00000341044:A806V;ENSP00000367079:A806V;ENSP00000367085:A806V	ENSP00000341044:A806V	A	+	2	0	ACACB	108115853	1.000000	0.71417	0.233000	0.24025	0.654000	0.38779	7.270000	0.78493	2.513000	0.84729	0.558000	0.71614	GCG	-	NULL		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	C	NM_001093	-		109631470	1	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109631470	C	T	109631470	3	4	146	1	0	0	0	0	1	0	0	0	107	768	27	1	2475	1	ACACB	12	109631470	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09		109631470	24220425	37	10834											
KNTC1	9735	genome.wustl.edu	37	chr12	123060135	123060135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgtatgcggcagtggttCcttggagtgcagctgtggag	16	7	1	0	rs151068294		TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr12:123060135C>T	ENST00000333479.7	+	28	2605	c.2428C>T	c.(2428-2430)Cct>Tct	p.P810S	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	810					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GGCAGTGGTTCCTTGGAGTGC	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		20416	0		0	False		,,,				2504	0																0								ENSG00000184445						113	114	114					12																	123060135		2117	4226	6343	KNTC1	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2428C>T	12.37:g.123060135C>T	ENSP00000328236:p.Pro810Ser	Somatic	0	106	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	131	22.02	A7E2C4|B3KSG2	Missense_Mutation	SNP	52	0	0	62	23.17	19	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.P810S	ENST00000333479.7	37	c.2428	CCDS45002.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	33	5.215155	0.95104	.	.	ENSG00000184445	ENST00000333479	T	0.66460	-0.21	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.81470	-0.0918	10	0.72032	D	0.01	-17.4721	17.7222	0.88355	0.0:1.0:0.0:0.0	.	810	P50748	KNTC1_HUMAN	S	810	ENSP00000328236:P810S	ENSP00000328236:P810S	P	+	1	0	KNTC1	121626088	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.818000	0.86416	2.614000	0.88457	0.655000	0.94253	CCT	-	NULL		0.483	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	protein_coding	OTTHUMT00000396110.2	C		rs151068294		123060135	1	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123060135	C	T	123060135	3	4	146	1	0	0	0	0	1	0	0	0	8430	855	30	2	2534	2	KNTC1	12	123060135	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	13428665	123060135	10791760	38	10835											
DZIP1	22873	genome.wustl.edu	37	chr13	96242638	96242638	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctttcttgcttatgtctttCtgattccacactttttagta	4	9	4	1	rs267603869		TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr13:96242638C>G	ENST00000376829.2	-	17	2589	c.1738G>C	c.(1738-1740)Gaa>Caa	p.E580Q	DZIP1_ENST00000347108.3_Missense_Mutation_p.E580Q|DZIP1_ENST00000361156.3_Missense_Mutation_p.E561Q|DZIP1_ENST00000361396.2_Missense_Mutation_p.E561Q	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	580					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTATGTCTTTCTGATTCCACA	0.373																																																	0								ENSG00000134874						197	177	184					13																	96242638		2203	4300	6503	DZIP1	SO:0001583	missense	0			-	HGNC	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"Zinc fingers, C2H2-type"	20908	protein-coding gene	gene with protein product		608671	"DAZ interacting protein 1"				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1738G>C	13.37:g.96242638C>G	ENSP00000366025:p.Glu580Gln	Somatic	0	67	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	129	16.23	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	48	0	0	103	17.46	22	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E580Q	ENST00000376829.2	37	c.1738	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	0.283	-0.985271	0.02180	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.06933	3.31;3.24;3.24;3.31	5.66	0.0252	0.14144	.	0.679800	0.15783	N	0.244849	T	0.04048	0.0113	N	0.22421	0.69	0.09310	N	1	P;B	0.35348	0.496;0.363	B;B	0.26969	0.075;0.034	T	0.46219	-0.9207	10	0.12430	T	0.62	0.8641	9.1845	0.37163	0.0:0.5619:0.0:0.4381	.	561;580	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	Q	580;561;561;580	ENSP00000257312:E580Q;ENSP00000355018:E561Q;ENSP00000355175:E561Q;ENSP00000366025:E580Q	ENSP00000257312:E580Q	E	-	1	0	DZIP1	95040639	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.004000	0.13106	-0.352000	0.08237	0.561000	0.74099	GAA	-	NULL		0.373	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	protein_coding	OTTHUMT00000045496.3	C	NM_014934	-		96242638	-1	no_errors	ENST00000347108	ensembl	human	known	74_37	missense	SNP	0.001	G	G	96242638	C	G	96242638	3	3	146	1	0	0	0	0	1	0	0	0	4865	922	32	4	893	4	DZIP1	13	96242638	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09		96242638	18927240	39	10836											
CHD8	57680	genome.wustl.edu	37	chr14	21861844	21861844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatctcatagtcttgtgggGttggtcggctcctggccacc	13	12	2	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr14:21861844G>T	ENST00000557364.1	-	32	6373	c.6110C>A	c.(6109-6111)aCc>aAc	p.T2037N	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.T1758N|CHD8_ENST00000399982.2_Missense_Mutation_p.T2037N|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2037					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCTTGTGGGGTTGGTCGGCT	0.552																																																	0								ENSG00000100888						58	60	59					14																	21861844		2001	4170	6171	CHD8	SO:0001583	missense	0			-	HGNC	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6110C>A	14.37:g.21861844G>T	ENSP00000451601:p.Thr2037Asn	Somatic	0	63	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	96	20.00	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	49	0	0	80	20.00	20	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T2037N	ENST00000557364.1	37	c.6110	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262713	0.23051	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.70749	-0.51;-0.51;-0.51	5.26	3.46	0.39613	.	0.482752	0.23191	N	0.050916	T	0.41650	0.1168	N	0.08118	0	0.26397	N	0.976483	B	0.32620	0.378	B	0.26969	0.075	T	0.20874	-1.0262	10	0.18710	T	0.47	-4.0883	5.6322	0.17516	0.1719:0.1608:0.6673:0.0	.	1758	Q9HCK8-2	.	N	1758;2037;1757;2037	ENSP00000406288:T1758N;ENSP00000382863:T2037N;ENSP00000451601:T2037N	ENSP00000262707:T1757N	T	-	2	0	CHD8	20931684	0.951000	0.32395	1.000000	0.80357	0.987000	0.75469	0.374000	0.20501	0.811000	0.34303	-0.244000	0.11960	ACC	-	NULL		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	protein_coding	OTTHUMT00000410436.1	G	NM_020920	-		21861844	-1	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	SNP	0.980	T	T	21861844	G	T	21861844	3	4	146	1	0	0	0	0	1	0	0	0	3333	1261	44	3	1663	3	CHD8	14	21861844	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		21861844	85487696	40	10837											
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157999	65157999	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaggtcctgcaggaaatgaGagatttgggagagctgagcc	15	8	0	4			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr15:65157999G>A	ENST00000323544.4	+	6	1513	c.1385G>A	c.(1384-1386)aGa>aAa	p.R462K	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	462										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGGAAATGAGAGATTTGGGA	0.612																																																	0								ENSG00000241839						33	35	34					15																	65157999		2202	4299	6501	PLEKHO2	SO:0001583	missense	0			-	HGNC	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1385G>A	15.37:g.65157999G>A	ENSP00000326706:p.Arg462Lys	Somatic	0	42	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	77	0	0	44	32.31	21	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R462K	ENST00000323544.4	37	c.1385	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569790	0.28003	.	.	ENSG00000241839	ENST00000323544	T	0.27890	1.64	5.13	1.81	0.25067	.	0.276436	0.39407	N	0.001373	T	0.13372	0.0324	N	0.12746	0.255	0.25635	N	0.986269	B;B	0.20052	0.041;0.029	B;B	0.21151	0.033;0.004	T	0.19976	-1.0289	10	0.20519	T	0.43	.	4.974	0.14131	0.4932:0.0:0.5068:0.0	.	412;462	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	K	462	ENSP00000326706:R462K	ENSP00000326706:R462K	R	+	2	0	PLEKHO2	62945052	0.990000	0.36364	0.952000	0.39060	0.884000	0.51177	2.969000	0.49232	0.560000	0.29169	0.549000	0.68633	AGA	-	NULL		0.612	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	protein_coding	OTTHUMT00000256659.1	G	NM_025201	-		65157999	1	no_errors	ENST00000323544	ensembl	human	known	74_37	missense	SNP	0.967	A	A	65157999	G	A	65157999	3	1	146	1	0	0	0	0	1	0	0	0	12087	942	33	2	1407	2	PLEKHO2	15	65157999	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		65157999	37373393	41	10838											
TBC1D2B	23102	genome.wustl.edu	37	chr15	78316558	78316558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccgaaggggagctgggCgccacggtgggaggaggccc	19	11	0	0	rs201179221		TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr15:78316558C>T	ENST00000300584.3	-	6	1409	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	TBC1D2B_ENST00000409931.3_Silent_p.A470A	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	470							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGGAGCTGGGCGCCACGGTGG	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		19628	0		0	False		,,,				2504	0																0								ENSG00000167202	C	,	0,4392		0,0,2196	55	46	49		1410,1410	-8.8	0	15		49	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	TBC1D2B	NM_015079.5,NM_144572.1	,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	,	470/915,470/964	78316558	1,12977	2196	4293	6489	TBC1D2B	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1410G>A	15.37:g.78316558C>T		Somatic	0	91	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	111	21.83	A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	47	0	0	60	20.00	15	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.A470	ENST00000300584.3	37	c.1410	CCDS45314.1	15	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.972	0.363217	0.11296	0.0	1.16E-4	ENSG00000167202	ENST00000418039	.	.	.	4.65	-8.8	0.00817	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24368	-1.0162	4	.	.	.	.	6.041	0.19734	0.0911:0.1267:0.1672:0.615	.	.	.	.	H	352	.	.	R	-	2	0	TBC1D2B	76103613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.536000	0.02208	-1.580000	0.01644	-1.430000	0.01095	CGC	-	superfamily_Prefoldin		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	protein_coding	OTTHUMT00000328369.3	C	NM_015079	rs201179221		78316558	-1	no_errors	ENST00000300584	ensembl	human	known	74_37	silent	SNP	0.000	T	T	78316558	C	T	78316558	2	4	146	1	0	0	0	0	0	0	0	1	15626	755	27	1		1	TBC1D2B	15	78316558	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	13158559	78316558	24214834	42	10839											
IQGAP1	8826	genome.wustl.edu	37	chr15	90934098	90934098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttgtcatttggaagaaGcgaagaggtaaagattggct	12	5	1	3			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr15:90934098G>T	ENST00000268182.5	+	2	272	c.148G>T	c.(148-150)Gcg>Tcg	p.A50S	RP11-154B12.3_ENST00000560578.1_RNA|IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTGGAAGAAGCGAAGAGGTA	0.423																																																	0								ENSG00000140575						166	150	155					15																	90934098		2198	4298	6496	IQGAP1	SO:0001583	missense	0			-	HGNC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.148G>T	15.37:g.90934098G>T	ENSP00000268182:p.Ala50Ser	Somatic	0	64	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.78	A7MBM3	Missense_Mutation	SNP	64	0	0	72	27.27	27	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.A50S	ENST00000268182.5	37	c.148	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922774	0.92319	.	.	ENSG00000140575	ENST00000268182	D	0.95238	-3.65	4.73	4.73	0.59995	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	M	0.87547	2.89	0.80722	D	1	D	0.61697	0.99	D	0.71870	0.975	D	0.97859	1.0279	10	0.72032	D	0.01	-11.271	15.2382	0.73447	0.0:0.0:1.0:0.0	.	50	P46940	IQGA1_HUMAN	S	50	ENSP00000268182:A50S	ENSP00000268182:A50S	A	+	1	0	IQGAP1	88735102	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.110000	0.94302	2.460000	0.83146	0.462000	0.41574	GCG	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	protein_coding	OTTHUMT00000313493.1	G	NM_003870	-		90934098	1	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90934098	G	T	90934098	3	4	146	1	0	0	0	0	1	0	0	0	7816	971	34	3	154	3	IQGAP1	15	90934098	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	12617540	90934098	11597294	43	10840											
TMC7	79905	genome.wustl.edu	37	chr16	19049220	19049220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggaggaagaaagaatgCggcagaaaatagcagaaagg	14	4	1	4			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr16:19049220C>T	ENST00000304381.5	+	8	1160	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000421369.3_Missense_Mutation_p.R234W|TMC7_ENST00000569532.1_Missense_Mutation_p.R344W	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	344					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGAAAGAATGCGGCAGAAAAT	0.398																																																	0								ENSG00000170537						144	129	134					16																	19049220		2197	4300	6497	TMC7	SO:0001583	missense	0			-	HGNC	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1030C>T	16.37:g.19049220C>T	ENSP00000304710:p.Arg344Trp	Somatic	0	75	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	27	57.14	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	51	0	0	23	48.89	22	pfam_TMC	p.R344W	ENST00000304381.5	37	c.1030	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482525	0.84747	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.58652	0.32;0.32	5.5	4.5	0.54988	.	0.064293	0.64402	D	0.000006	T	0.64789	0.2630	M	0.72894	2.215	0.36737	D	0.882042	D;D	0.61697	0.99;0.99	P;P	0.52343	0.696;0.696	T	0.74179	-0.3749	10	0.87932	D	0	.	10.5494	0.45079	0.3291:0.6709:0.0:0.0	.	344;344	Q7Z402;B3KSZ3	TMC7_HUMAN;.	W	344;234	ENSP00000304710:R344W;ENSP00000397081:R234W	ENSP00000304710:R344W	R	+	1	2	TMC7	18956721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.746000	0.55127	2.588000	0.87417	0.650000	0.86243	CGG	-	NULL		0.398	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	protein_coding	OTTHUMT00000254276.3	C	NM_024847	-		19049220	1	no_errors	ENST00000304381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19049220	C	T	19049220	3	4	146	1	0	0	0	0	1	0	0	0	15997	759	27	1	1060	1	TMC7	16	19049220	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09		19049220	71305533	44	10841											
TAOK2	8479	genome.wustl.edu	37	chr16	30002472	30002472	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccttcgatgcggaaagcatGaggctgggcttctccagcat	13	11	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr16:30002472G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.M911I	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CGGAAAGCATGAGGCTGGGCT	0.672																																																	0								ENSG00000149930						62	66	65					16																	30002472		2197	4300	6497	TAOK2	SO:0001628	intergenic_variant	0			-	HGNC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002472G>A		Somatic	0	22	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	H3BSR3|O75707|O75708	Missense_Mutation	SNP	59	0	0	35	0.00	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M911I	ENST00000279392.3	37	c.2733	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	g	10.65	1.409880	0.25465	.	.	ENSG00000149930	ENST00000279394	T	0.47869	0.83	5.0	5.0	0.66597	.	.	.	.	.	T	0.38878	0.1057	L	0.31926	0.97	0.80722	D	1	B	0.15141	0.012	B	0.18871	0.023	T	0.15752	-1.0426	8	.	.	.	.	17.074	0.86581	0.0:0.0:1.0:0.0	.	911	Q9UL54-2	.	I	911	ENSP00000279394:M911I	.	M	+	3	0	TAOK2	29909973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.357000	0.59436	2.324000	0.78689	0.645000	0.84053	ATG	-	NULL		0.672	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK2	protein_coding	OTTHUMT00000255160.2	G	NM_003609	-		30002472	1	no_errors	ENST00000279394	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30002472	G	A	30002472	1	1	146	0	1	0	0	0	0	0	0	0	15555	1290	45	2		2	TAOK2	16	30002472	IGR	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	10953252	30002472	60352281	45	10842											
ZNF267	10308	genome.wustl.edu	37	chr16	31927666	31927666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtaaagccttcagctAtaggtcatacctcactacac	7	11	3	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr16:31927666A>G	ENST00000300870.10	+	4	2305	c.2096A>G	c.(2095-2097)tAt>tGt	p.Y699C		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	699					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GCCTTCAGCTATAGGTCATAC	0.443																																																	0								ENSG00000185947						110	96	101					16																	31927666		2197	4300	6497	ZNF267	SO:0001583	missense	0			-	HGNC	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2096A>G	16.37:g.31927666A>G	ENSP00000300870:p.Tyr699Cys	Somatic	0	10	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	9	81.25	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	18	0	0	5	88.64	39	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y699C	ENST00000300870.10	37	c.2096	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	6.801	0.516886	0.13005	.	.	ENSG00000185947	ENST00000300870	T	0.19250	2.16	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13114	0.0318	N	0.25094	0.71	0.09310	N	0.999999	D	0.54601	0.967	B	0.44085	0.44	T	0.17077	-1.0381	9	0.37606	T	0.19	.	5.2175	0.15350	0.9999:0.0:1.0E-4:0.0	.	699	Q14586	ZN267_HUMAN	C	699	ENSP00000300870:Y699C	ENSP00000300870:Y699C	Y	+	2	0	ZNF267	31835167	0.000000	0.05858	0.037000	0.18230	0.034000	0.12701	-0.386000	0.07370	0.413000	0.25759	0.402000	0.26972	TAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	protein_coding	OTTHUMT00000432446.2	A	NM_003414	-		31927666	1	no_errors	ENST00000300870	ensembl	human	known	74_37	missense	SNP	0.000	G	G	31927666	A	G	31927666	3	3	146	1	0	0	0	0	1	0	0	0	17813	449	16	5	2110	5	ZNF267	16	31927666	Missense_Mutation	SNP	A	TCGA-HB-A43Z-01A-11D-A24N-09	1925194	31927666	58427087	46	10843											
RLTPR	146206	genome.wustl.edu	37	chr16	67683005	67683005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagacatggtgactctgGtgctggccatcgggagaagc	15	10	2	3			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr16:67683005G>A	ENST00000334583.6	+	18	1946	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	RLTPR_ENST00000545661.1_Missense_Mutation_p.V504M	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	540					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGTGACTCTGGTGCTGGCCAT	0.622																																																	0								ENSG00000159753						39	48	45					16																	67683005		2077	4209	6286	RLTPR	SO:0001583	missense	0			-	HGNC	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1618G>A	16.37:g.67683005G>A	ENSP00000334958:p.Val540Met	Somatic	0	62	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	6	83.33	B8X2Z3	Missense_Mutation	SNP	49	0	0	4	91.84	45	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V540M	ENST00000334583.6	37	c.1618	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887489	0.52014	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.53857	0.6;0.6	5.07	5.07	0.68467	.	0.157590	0.43260	D	0.000595	T	0.68403	0.2997	L	0.58810	1.83	0.38564	D	0.949786	D;D	0.76494	0.999;0.999	D;D	0.68765	0.956;0.96	T	0.73720	-0.3894	10	0.72032	D	0.01	-16.1018	16.2341	0.82361	0.0:0.0:1.0:0.0	.	504;540	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	M	540;504	ENSP00000334958:V540M;ENSP00000441481:V504M	ENSP00000334958:V540M	V	+	1	0	RLTPR	66240506	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	2.413000	0.44618	2.367000	0.80283	0.655000	0.94253	GTG	-	NULL		0.622	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	protein_coding	OTTHUMT00000467858.1	G	NM_001013838	-		67683005	1	no_errors	ENST00000334583	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67683005	G	A	67683005	3	1	146	1	0	0	0	0	1	0	0	0	13402	1261	44	2	1688	2	RLTPR	16	67683005	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	35755339	67683005	22671748	47	10844											
ZFHX3	463	genome.wustl.edu	37	chr16	72832405	72832405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacatggcgatctgacacCggcagctgaggcctcttggc	12	13	2	2	rs200609704		TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr16:72832405C>T	ENST00000268489.5	-	9	4848	c.4176G>A	c.(4174-4176)ccG>ccA	p.P1392P	ZFHX3_ENST00000397992.5_Silent_p.P478P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1392					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)			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)				GATCTGACACCGGCAGCTGAG	0.493																																																	0								ENSG00000140836						148	130	136					16																	72832405		2198	4300	6498	ZFHX3	SO:0001819	synonymous_variant	0			-	HGNC	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.4176G>A	16.37:g.72832405C>T		Somatic	0	55	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	17	54.05	D3DWS8|O15101|Q13719	Silent	SNP	49	0	0	17	56.41	22	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P1392	ENST00000268489.5	37	c.4176	CCDS10908.1	16																																																																																			-	NULL		0.493	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	C	NM_006885	rs200609704		72832405	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	SNP	0.000	T	T	72832405	C	T	72832405	2	4	146	1	0	0	0	0	0	0	0	1	17641	639	23	1		1	ZFHX3	16	72832405	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	5149400	72832405	17522348	48	10845											
PIGS	94005	genome.wustl.edu	37	chr17	26885575	26885575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagctgagtcaaagcGgggattcacccccaacattg	13	10	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr17:26885575G>T	ENST00000308360.7	-	8	1228	c.853C>A	c.(853-855)Cgc>Agc	p.R285S	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.R224S|PIGS_ENST00000395346.2_Missense_Mutation_p.R277S	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	285					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GAGTCAAAGCGGGGATTCACC	0.463																																																	0								ENSG00000087111						66	58	60					17																	26885575		2203	4300	6503	PIGS	SO:0001583	missense	0			-	HGNC		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.853C>A	17.37:g.26885575G>T	ENSP00000309430:p.Arg285Ser	Somatic	0	61	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6UVX6	Missense_Mutation	SNP	68	0	0	38	0.00	0	pfam_PtdIno-glycan_biosynth_class_S	p.R285S	ENST00000308360.7	37	c.853	CCDS11235.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.728687|4.728687	0.89390|0.89390	.|.	.|.	ENSG00000087111|ENSG00000087111	ENST00000268758|ENST00000395346;ENST00000308360;ENST00000543734	.|T;T;T	.|0.39997	.|1.05;1.05;1.05	5.64|5.64	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.992	.|D;P	.|0.65233	.|0.933;0.89	T|T	0.50947|0.50947	-0.8767|-0.8767	6|10	0.31617|0.08179	T|T	0.26|0.78	-15.4795|-15.4795	16.0995|16.0995	0.81163|0.81163	0.0:0.0:0.8655:0.1345|0.0:0.0:0.8655:0.1345	.|.	.|285;277	.|Q96S52;Q96S52-2	.|PIGS_HUMAN;.	Q|S	28|277;285;224	.|ENSP00000378755:R277S;ENSP00000309430:R285S;ENSP00000438447:R224S	ENSP00000268758:P28Q|ENSP00000309430:R285S	P|R	-|-	2|1	0|0	PIGS|PIGS	23909702|23909702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.355000|7.355000	0.79434|0.79434	1.356000|1.356000	0.45884|0.45884	0.561000|0.561000	0.74099|0.74099	CCG|CGC	-	pfam_PtdIno-glycan_biosynth_class_S		0.463	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	protein_coding	OTTHUMT00000255833.3	G	NM_033198	-		26885575	-1	no_errors	ENST00000308360	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26885575	G	T	26885575	3	4	146	1	0	0	0	0	1	0	0	0	11900	1116	39	3	834	3	PIGS	17	26885575	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		26885575	54309635	49	10846											
KRT27	342574	genome.wustl.edu	37	chr17	38936017	38936017	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcttcgtactcagctcGcatattgttcagcagaaccg	11	11	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr17:38936017G>A	ENST00000301656.3	-	4	821	c.781C>T	c.(781-783)Cga>Tga	p.R261*	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TACTCAGCTCGCATATTGTTC	0.607																																																	0								ENSG00000171446						50	50	50					17																	38936017		2203	4300	6503	KRT27	SO:0001587	stop_gained	0			-	HGNC	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.781C>T	17.37:g.38936017G>A	ENSP00000301656:p.Arg261*	Somatic	0	41	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	15	59.46		Nonsense_Mutation	SNP	37	0	0	23	52.08	25	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R261*	ENST00000301656.3	37	c.781	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.279319	0.95489	.	.	ENSG00000171446	ENST00000301656	.	.	.	5.47	1.82	0.25136	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0488	0.58942	0.0:0.0:0.3576:0.6424	.	.	.	.	X	261	.	ENSP00000301656:R261X	R	-	1	2	KRT27	36189543	0.699000	0.27786	0.991000	0.47740	0.814000	0.46013	-0.216000	0.09266	0.767000	0.33267	0.580000	0.79431	CGA	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.607	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	protein_coding	OTTHUMT00000257216.1	G	NM_181537	-		38936017	-1	no_errors	ENST00000301656	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	38936017	G	A	38936017	4	1	146	1	0	0	0	0	0	1	0	0	8466	1095	38	1	618	1	KRT27	17	38936017	Nonsense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	12050442	38936017	42259193	50	10847											
EFTUD2	9343	genome.wustl.edu	37	chr17	42929917	42929917	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctgggatgggtgcatcctGagtcacgtgccccctgagac	14	13	1	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr17:42929917G>A	ENST00000426333.2	-	26	2872	c.2575C>T	c.(2575-2577)Cag>Tag	p.Q859*	EFTUD2_ENST00000592576.1_Nonsense_Mutation_p.Q849*|EFTUD2_ENST00000402521.3_Nonsense_Mutation_p.Q824*|EFTUD2_ENST00000591382.1_Nonsense_Mutation_p.Q859*	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	859					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.Q859*(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGTGCATCCTGAGTCACGTGC	0.522																																					Ovarian(10;65 485 10258 29980 30707)												1	Substitution - Nonsense(1)	prostate(1)						ENSG00000108883						86	74	78					17																	42929917		2203	4300	6503	EFTUD2	SO:0001587	stop_gained	0			-	HGNC	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2575C>T	17.37:g.42929917G>A	ENSP00000392094:p.Gln859*	Somatic	0	31	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Nonsense_Mutation	SNP	56	0	0	38	37.70	23	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q859*	ENST00000426333.2	37	c.2575	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.327469	0.99138	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-22.6567	20.2194	0.98323	0.0:0.0:1.0:0.0	.	.	.	.	X	859;849;824	.	ENSP00000262414:Q849X	Q	-	1	0	EFTUD2	40285443	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.837000	0.99465	2.879000	0.98667	0.650000	0.86243	CAG	-	pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	protein_coding	OTTHUMT00000448672.1	G	NM_004247	-		42929917	-1	no_errors	ENST00000426333	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	42929917	G	A	42929917	4	1	146	1	0	0	0	0	0	1	0	0	4963	1299	45	2	355	2	EFTUD2	17	42929917	Nonsense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	3993900	42929917	38265293	51	10848											
ABCA8	10351	genome.wustl.edu	37	chr17	66883174	66883174	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttacaacatagaaacaaaatGaccaaatgccactatttttt	3	8	0	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr17:66883174G>A	ENST00000269080.2	-	24	3430	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S1138L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S1138L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1098					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAACAAAATGACCAAATGCC	0.348																																																	0								ENSG00000141338						75	73	73					17																	66883174		2203	4300	6503	ABCA8	SO:0001583	missense	0			-	HGNC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3293C>T	17.37:g.66883174G>A	ENSP00000269080:p.Ser1098Leu	Somatic	0	15	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	41	0	0	69	23.33	21	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1138L	ENST00000269080.2	37	c.3413	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057838	0.76074	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85258	-1.96;-1.96	4.17	4.17	0.49024	.	0.191417	0.25445	N	0.030629	D	0.90508	0.7026	M	0.86028	2.79	0.41409	D	0.987722	D;D;P;D	0.61697	0.99;0.985;0.742;0.985	P;D;P;D	0.63113	0.897;0.911;0.628;0.911	D	0.88605	0.3152	10	0.10111	T	0.7	.	13.6778	0.62465	0.0:0.0:1.0:0.0	.	1077;1138;1138;1098	F5H6Z4;A1L3U3;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	L	1098;1138;1077	ENSP00000269080:S1098L;ENSP00000402814:S1138L	ENSP00000269080:S1098L	S	-	2	0	ABCA8	64394769	0.996000	0.38824	1.000000	0.80357	0.952000	0.60782	2.956000	0.49129	2.321000	0.78463	0.655000	0.94253	TCA	-	NULL		0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	protein_coding	OTTHUMT00000450172.1	G	NM_007168	-		66883174	-1	no_errors	ENST00000430352	ensembl	human	known	74_37	missense	SNP	0.998	A	A	66883174	G	A	66883174	3	1	146	1	0	0	0	0	1	0	0	0	38	1294	45	2	1512	2	ABCA8	17	66883174	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	23953257	66883174	14312036	52	10849											
CARD14	79092	genome.wustl.edu	37	chr17	78166396	78166396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagacgacagcgactGcagcctcgtcagctccacag	10	17	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr17:78166396G>T	ENST00000573882.1	+	11	1870	c.1334G>T	c.(1333-1335)tGc>tTc	p.C445F	CARD14_ENST00000344227.2_Missense_Mutation_p.C445F|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.C208F|CARD14_ENST00000570421.1_Missense_Mutation_p.C445F			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	445					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACAGCGACTGCAGCCTCGTC	0.662																																																	0								ENSG00000141527						50	51	51					17																	78166396		2203	4300	6503	CARD14	SO:0001583	missense	0			-	HGNC	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1334G>T	17.37:g.78166396G>T	ENSP00000458715:p.Cys445Phe	Somatic	0	89	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	66	24.72	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	62	0	0	27	34.15	14	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like	p.C445F	ENST00000573882.1	37	c.1334	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.337326	0.00224	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.32988	1.43;1.43	3.64	-0.0973	0.13633	.	2.414290	0.01689	N	0.026591	T	0.20251	0.0487	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.09314	-1.0680	10	0.08381	T	0.77	0.0277	3.8001	0.08754	0.13:0.0:0.4138:0.4562	.	445;208;445	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	F	445;208;208	ENSP00000344549:C445F;ENSP00000376229:C208F	ENSP00000308507:C208F	C	+	2	0	CARD14	75780991	0.006000	0.16342	0.037000	0.18230	0.033000	0.12548	0.190000	0.17057	0.201000	0.20466	0.561000	0.74099	TGC	-	NULL		0.662	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	protein_coding	OTTHUMT00000437507.1	G		-		78166396	1	no_errors	ENST00000344227	ensembl	human	known	74_37	missense	SNP	0.058	T	T	78166396	G	T	78166396	3	4	146	1	0	0	0	0	1	0	0	0	2648	1319	46	3	1364	3	CARD14	17	78166396	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	11283222	78166396	3028814	53	10850											
AQP4	361	genome.wustl.edu	37	chr18	24436238	24436238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctctccccggtcaacGtcaatcacatgcaccactcc	4	19	5	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr18:24436238G>A	ENST00000383168.4	-	5	1037	c.909C>T	c.(907-909)gaC>gaT	p.D303D	AQP4_ENST00000581374.1_Silent_p.D281D|AQP4_ENST00000583022.1_5'Flank|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Silent_p.D281D|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	303					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCCGGTCAACGTCAATCACAT	0.488																																																	0								ENSG00000171885						346	294	312					18																	24436238		2203	4300	6503	AQP4	SO:0001819	synonymous_variant	0			-	HGNC	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.909C>T	18.37:g.24436238G>A		Somatic	0	80	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	110	17.29	P78564	Silent	SNP	36	0	0	65	21.69	18	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.D303	ENST00000383168.4	37	c.909	CCDS11889.1	18																																																																																			-	NULL		0.488	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	protein_coding	OTTHUMT00000254914.2	G	NM_001650, NM_004028	-		24436238	-1	no_errors	ENST00000383168	ensembl	human	known	74_37	silent	SNP	0.998	A	A	24436238	G	A	24436238	2	1	146	1	0	0	0	0	0	0	0	1	828	1136	40	1		1	AQP4	18	24436238	Silent	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		24436238	53641010	54	10851											
ZNF236	7776	genome.wustl.edu	37	chr18	74589967	74589967	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctttttattctttaaggtCaagaatggtcctacctataa	5	8	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr18:74589967C>G	ENST00000253159.8	+	7	1035	c.837C>G	c.(835-837)gtC>gtG	p.V279V	ZNF236_ENST00000320610.9_Silent_p.V281V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	279					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)			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)		TCTTTAAGGTCAAGAATGGTC	0.303																																																	0								ENSG00000130856						53	49	50					18																	74589967		1815	4075	5890	ZNF236	SO:0001819	synonymous_variant	0			-	HGNC	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.837C>G	18.37:g.74589967C>G		Somatic	0	26	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	84	17.65	B2RTX9|Q9UL37	Silent	SNP	65	0	0	143	23.12	43	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V279	ENST00000253159.8	37	c.837	CCDS42447.1	18																																																																																			-	pfscan_Znf_C2H2		0.303	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	C		-		74589967	1	no_errors	ENST00000253159	ensembl	human	known	74_37	silent	SNP	1.000	G	G	74589967	C	G	74589967	2	3	146	1	0	0	0	0	0	0	0	1	17796	813	29	4		4	ZNF236	18	74589967	Silent	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	50153729	74589967	3487281	55	10852			1	80		3	3	2176	C		9.153719e-06
ZNF236	7776	genome.wustl.edu	37	chr18	74589978	74589978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaaggtcaagaatggtcCtacctataactgtacagaat	7	8	1	2			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr18:74589978C>T	ENST00000253159.8	+	7	1046	c.848C>T	c.(847-849)cCt>cTt	p.P283L	ZNF236_ENST00000320610.9_Missense_Mutation_p.P285L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	283					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)			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)		AAGAATGGTCCTACCTATAAC	0.303																																																	0								ENSG00000130856						62	58	59					18																	74589978		1825	4079	5904	ZNF236	SO:0001583	missense	0			-	HGNC	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.848C>T	18.37:g.74589978C>T	ENSP00000253159:p.Pro283Leu	Somatic	0	28	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	86	16.50	B2RTX9|Q9UL37	Missense_Mutation	SNP	61	1.61	1	139	22.65	41	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P283L	ENST00000253159.8	37	c.848	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486992	0.84854	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.06933	3.24;3.24	5.14	5.14	0.70334	.	0.128260	0.53938	D	0.000058	T	0.09335	0.0230	N	0.12527	0.23	0.58432	D	0.99999	P;D	0.59767	0.843;0.986	B;P	0.48304	0.295;0.573	T	0.22591	-1.0212	10	0.66056	D	0.02	.	18.7034	0.91629	0.0:1.0:0.0:0.0	.	283;283	Q9NWI2;Q9UL36	.;ZN236_HUMAN	L	283	ENSP00000253159:P283L;ENSP00000444524:P283L	ENSP00000253159:P283L	P	+	2	0	ZNF236	72718966	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	6.905000	0.75714	2.407000	0.81776	0.456000	0.33151	CCT	-	NULL		0.303	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	C		-		74589978	1	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	SNP	0.961	T	T	74589978	C	T	74589978	3	4	146	1	0	0	0	0	1	0	0	0	17796	681	24	2	874	2	ZNF236	18	74589978	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	11	74589978	3487270	56	10853			1	80		3	3	2176	C		9.153719e-06
ZNF236	7776	genome.wustl.edu	37	chr18	74592142	74592142	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggcctcaagccagccgagctCccaggcggtgagcgacgtca	14	15	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr18:74592142C>G	ENST00000253159.8	+	8	1250	c.1052C>G	c.(1051-1053)tCc>tGc	p.S351C	ZNF236_ENST00000320610.9_Missense_Mutation_p.S353C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	351					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)			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)		CAGCCGAGCTCCCAGGCGGTG	0.602																																																	0								ENSG00000130856						46	51	49					18																	74592142		1998	4154	6152	ZNF236	SO:0001583	missense	0			-	HGNC	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.1052C>G	18.37:g.74592142C>G	ENSP00000253159:p.Ser351Cys	Somatic	0	68	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	183	17.57	B2RTX9|Q9UL37	Missense_Mutation	SNP	42	0	0	129	15.69	24	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S351C	ENST00000253159.8	37	c.1052	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681591	0.29872	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11712	2.75;2.91	4.99	4.99	0.66335	.	0.614209	0.16619	N	0.206594	T	0.12178	0.0296	L	0.44542	1.39	0.09310	N	0.999999	P;P	0.52463	0.953;0.938	P;B	0.46975	0.533;0.436	T	0.10064	-1.0646	10	0.07813	T	0.8	.	13.2261	0.59914	0.2004:0.7996:0.0:0.0	.	351;351	Q9NWI2;Q9UL36	.;ZN236_HUMAN	C	351	ENSP00000253159:S351C;ENSP00000444524:S351C	ENSP00000253159:S351C	S	+	2	0	ZNF236	72721130	0.321000	0.24625	0.005000	0.12908	0.007000	0.05969	3.946000	0.56644	2.316000	0.78162	0.557000	0.71058	TCC	-	NULL		0.602	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	C		-		74592142	1	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	SNP	0.002	G	G	74592142	C	G	74592142	3	3	146	1	0	0	0	0	1	0	0	0	17796	855	30	4	1082	4	ZNF236	18	74592142	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09	2164	74592142	3485106	57	10854			1	80		3	3	2176	C		9.153719e-06
CLEC4G	339390	genome.wustl.edu	37	chr19	7796175	7796175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctcagcaggtcgtggCcgtcaagcagcgccgcgcgc	14	15	2	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr19:7796175C>T	ENST00000328853.5	-	3	265	c.197G>A	c.(196-198)gGc>gAc	p.G66D	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	66						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CAGGTCGTGGCCGTCAAGCAG	0.721																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												0								ENSG00000182566						6	7	7					19																	7796175		2152	4226	6378	CLEC4G	SO:0001583	missense	0			-	HGNC	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.197G>A	19.37:g.7796175C>T	ENSP00000327599:p.Gly66Asp	Somatic	0	14	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00		Missense_Mutation	SNP	49	0	0	32	37.25	19	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.G66D	ENST00000328853.5	37	c.197	CCDS12185.1	19	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232289	0.22626	.	.	ENSG00000182566	ENST00000328853	T	0.00922	5.54	3.35	-3.18	0.05186	.	1.406470	0.05485	N	0.555454	T	0.00695	0.0023	N	0.22421	0.69	0.09310	N	1	B	0.33073	0.396	B	0.29785	0.107	T	0.47849	-0.9085	10	0.12430	T	0.62	.	5.1991	0.15254	0.1805:0.5309:0.0:0.2885	.	66	Q6UXB4	CLC4G_HUMAN	D	66	ENSP00000327599:G66D	ENSP00000327599:G66D	G	-	2	0	CLEC4G	7702175	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.388000	0.07352	-0.854000	0.04131	0.455000	0.32223	GGC	-	NULL		0.721	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	protein_coding	OTTHUMT00000461989.1	C	NM_198492	-		7796175	-1	no_errors	ENST00000328853	ensembl	human	known	74_37	missense	SNP	0.000	T	T	7796175	C	T	7796175	3	4	146	1	0	0	0	0	1	0	0	0	3519	739	26	2	712	2	CLEC4G	19	7796175	Missense_Mutation	SNP	C	TCGA-HB-A43Z-01A-11D-A24N-09		7796175	51332808	58	10855											
ZNF578	147660	genome.wustl.edu	37	chr19	53014787	53014787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttggtcaaaattcaAcccttgtaattcataaggca	7	7	3	1	rs35356792	byFrequency	TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr19:53014787A>T	ENST00000421239.2	+	6	1397	c.1153A>T	c.(1153-1155)Acc>Tcc	p.T385S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCAAAATTCAACCCTTGTAAT	0.378																																																	0								ENSG00000258405						96	101	99					19																	53014787		2203	4299	6502	ZNF578	SO:0001583	missense	0			-	HGNC	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1153A>T	19.37:g.53014787A>T	ENSP00000459216:p.Thr385Ser	Somatic	0	117	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	121	20.92	B4DR51|I3L1Y6	Missense_Mutation	SNP	94	0	0	98	22.83	29	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T385S	ENST00000421239.2	37	c.1153	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.282060	0.00251	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.09069	0.0224	N	0.02357	-0.585	0.09310	N	1	B	0.24426	0.103	B	0.28011	0.085	T	0.21655	-1.0239	7	.	.	.	.	0.5818	0.00713	0.4441:0.1578:0.131:0.2671	.	385	G3V4F6	.	S	385	.	.	T	+	1	0	ZNF578	57706599	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-13.157000	0.00001	-1.870000	0.01139	0.246000	0.17985	ACC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	protein_coding	OTTHUMT00000344298.3	A	NM_152472	-		53014787	1	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	SNP	0.000	T	T	53014787	A	T	53014787	3	4	146	1	0	0	0	0	1	0	0	0	18017	43	2	5	1163	5	ZNF578	19	53014787	Missense_Mutation	SNP	A	TCGA-HB-A43Z-01A-11D-A24N-09	45218612	53014787	6114196	59	10856											
ZNF552	79818	genome.wustl.edu	37	chr19	58319790	58319790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggtgtacaaggaggtggGacttactgttaaataatttc	11	5	1	0			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr19:58319790G>A	ENST00000391701.1	-	3	1011	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	281					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(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGAGGTGGGACTTACTGTT	0.408																																																	0								ENSG00000178935						70	64	66					19																	58319790		2203	4300	6503	ZNF552	SO:0001583	missense	0			-	HGNC	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.842C>T	19.37:g.58319790G>A	ENSP00000375582:p.Ser281Phe	Somatic	0	96	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	95	22.76	B3KUE9|Q6P5A6	Missense_Mutation	SNP	81	0	0	49	33.78	25	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S281F	ENST00000391701.1	37	c.842	CCDS12963.1	19	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973268	0.18736	.	.	ENSG00000178935	ENST00000391701	T	0.07567	3.18	1.74	-3.49	0.04724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11836	0.0288	M	0.84585	2.705	0.09310	N	1	P;B	0.35982	0.531;0.204	B;B	0.36885	0.154;0.235	T	0.17837	-1.0356	9	0.87932	D	0	.	4.6579	0.12628	0.0:0.1938:0.42:0.3862	.	277;281	B7Z1H1;Q9H707	.;ZN552_HUMAN	F	281	ENSP00000375582:S281F	ENSP00000375582:S281F	S	-	2	0	ZNF552	63011602	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-3.841000	0.00353	-0.518000	0.06452	0.205000	0.17691	TCC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF552	protein_coding	OTTHUMT00000466829.1	G	NM_024762	-		58319790	-1	no_errors	ENST00000391701	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58319790	G	A	58319790	3	1	146	1	0	0	0	0	1	0	0	0	17991	1174	41	2	385	2	ZNF552	19	58319790	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	5305003	58319790	809193	60	10857											
GNAZ	2781	genome.wustl.edu	37	chr22	23438606	23438606	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctacgaggataaccagacaGtaagtggggccgggggtttt	15	7	1	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr22:23438606G>C	ENST00000248996.4	+	2	1389		c.e2+1		RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TAACCAGACAGTAAGTGGGGC	0.567																																																	0								ENSG00000128266						146	168	161					22																	23438606		2198	4298	6496	GNAZ	SO:0001630	splice_region_variant	0			-	HGNC		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.723+1G>C	22.37:g.23438606G>C		Somatic	0	108	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	75	24.24	B2R6C1|Q4QRJ6	Splice_Site	SNP	55	0	0	45	18.18	10	-	e1+1	ENST00000248996.4	37	c.723+1	CCDS13804.1	22	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484225	0.44147	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	.	.	.	4.51	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8391	0.52344	0.086:0.0:0.914:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNAZ	21768606	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.597000	0.98273	1.049000	0.40321	-0.136000	0.14681	.	-	-		0.567	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	protein_coding	OTTHUMT00000319073.1	G	NM_002073	-	Intron	23438606	1	no_errors	ENST00000248996	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	23438606	G	C	23438606	5	2	146	1	0	0	0	0	0	0	1	0	6516	1043	36	4	726	4	GNAZ	22	23438606	Splice_Site	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09		23438606	27865960	61	10858											
SSTR3	6753	genome.wustl.edu	37	chr22	37603800	37603800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgaggaggcattctcagGttctgaggtcgtggacaccg	16	10	2	1			TCGA-HB-A43Z-01A-11D-A24N-09	TCGA-HB-A43Z-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d33e09-2e21-4da2-8e57-e78ce28c4408	33ac805d-038d-4238-8f33-54634f71015e	g.chr22:37603800G>T	ENST00000328544.3	-	2	576	c.43C>A	c.(43-45)Cct>Act	p.P15T	SSTR3_ENST00000402501.1_Missense_Mutation_p.P15T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	15					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCATTCTCAGGTTCTGAGGTC	0.632																																																	0								ENSG00000183473						58	55	56					22																	37603800		2203	4300	6503	SSTR3	SO:0001583	missense	0			-	HGNC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.43C>A	22.37:g.37603800G>T	ENSP00000330138:p.Pro15Thr	Somatic	0	88	0		0.727806280178188				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	62	31.11	A8K550|Q53ZR7	Missense_Mutation	SNP	60	0	0	37	40.32	25	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.P15T	ENST00000328544.3	37	c.43	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787734	0.02884	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.71698	-0.59;-0.59	5.61	2.31	0.28768	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.47716	1.5	0.09310	N	0.999999	P	0.43094	0.799	B	0.33339	0.162	T	0.43360	-0.9396	10	0.22109	T	0.4	.	9.2642	0.37630	0.0802:0.4572:0.4626:0.0	.	15	P32745	SSR3_HUMAN	T	15	ENSP00000330138:P15T;ENSP00000384904:P15T	ENSP00000330138:P15T	P	-	1	0	SSTR3	35933746	0.522000	0.26266	0.016000	0.15963	0.018000	0.09664	1.743000	0.38258	0.292000	0.22492	0.557000	0.71058	CCT	-	prints_Somatstn_rcpt_3		0.632	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	protein_coding	OTTHUMT00000318802.1	G		-		37603800	-1	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	SNP	0.182	T	T	37603800	G	T	37603800	3	4	146	1	0	0	0	0	1	0	0	0	15206	1261	44	3	1217	3	SSTR3	22	37603800	Missense_Mutation	SNP	G	TCGA-HB-A43Z-01A-11D-A24N-09	14165194	37603800	13700766	62	10859											
LPPR5	163404	genome.wustl.edu	37	chr1	99422183	99422183	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaaatcggacagttcGgcgcaccagcgggtttatat	11	10	0	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr1:99422183G>A	ENST00000263177.4	-	2	573	c.352C>T	c.(352-354)Cga>Tga	p.R118*	LPPR5_ENST00000370188.3_Nonsense_Mutation_p.R118*	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		118						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R118*(1)									CGGACAGTTCGGCGCACCAGC	0.358																																																	1	Substitution - Nonsense(1)	prostate(1)						ENSG00000117598						63	67	66					1																	99422183		2202	4300	6502	LPPR5	SO:0001587	stop_gained	0			-	Uniprot_gn																												ENST00000263177.4:c.352C>T	1.37:g.99422183G>A	ENSP00000263177:p.Arg118*	Somatic	0	51	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonsense_Mutation	SNP	42	0	0	34	47.69	31	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R118*	ENST00000263177.4	37	c.352	CCDS30778.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.375200	0.97515	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.74	-0.68	0.11346	.	0.066699	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0516	0.64739	0.0:0.0:0.2126:0.7874	.	.	.	.	X	118	.	ENSP00000263177:R118X	R	-	1	2	AL161744.1	99194771	0.994000	0.37717	0.970000	0.41538	0.996000	0.88848	0.449000	0.21744	0.102000	0.17638	0.591000	0.81541	CGA	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.358	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	protein_coding	OTTHUMT00000393221.1	G		-		99422183	-1	no_errors	ENST00000263177	ensembl	human	known	74_37	nonsense	SNP	0.780	A	A	99422183	G	A	99422183	4	1	147	1	0	0	0	0	0	1	0	0	8930	1124	39	1	633	1	LPPR5	1	99422183	Nonsense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		99422183	149828438	1	10860											
HRNR	388697	genome.wustl.edu	37	chr1	152191612	152191612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacctgaggcagaaccAtgctgactatagccctgtcc	10	12	0	4			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr1:152191612A>G	ENST00000368801.2	-	3	2568	c.2493T>C	c.(2491-2493)caT>caC	p.H831H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	831					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCAGAACCATGCTGACTAT	0.537																																																	0								ENSG00000197915						120	120	120					1																	152191612		2203	4300	6503	HRNR	SO:0001819	synonymous_variant	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2493T>C	1.37:g.152191612A>G		Somatic	0	85	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	57	31.33	Q5DT20|Q5U1F4	Silent	SNP	38	0	0	27	37.21	16	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H831	ENST00000368801.2	37	c.2493	CCDS30859.1	1																																																																																			-	NULL		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	A	XM_373868	-		152191612	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	SNP	0.002	G	G	152191612	A	G	152191612	2	3	147	1	0	0	0	0	0	0	0	1	7361	214	8	5		5	HRNR	1	152191612	Silent	SNP	A	TCGA-HB-A5W3-01A-11D-A29N-09	52769429	152191612	97059009	2	10861											
CCDC104	112942	genome.wustl.edu	37	chr2	55761026	55761026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtattacctgactgcTtaaccgatggctctgatgtg	11	9	1	2			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr2:55761026T>C	ENST00000349456.4	+	5	563	c.415T>C	c.(415-417)Tta>Cta	p.L139L	CCDC104_ENST00000403007.3_Silent_p.L139L|CCDC104_ENST00000406691.3_Silent_p.L139L|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000407816.3_Silent_p.L139L|CCDC104_ENST00000339012.3_Silent_p.L164L			Q96G28	CFA36_HUMAN		139										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGACTGCTTAACCGATGG	0.363																																																	0								ENSG00000163001						132	127	129					2																	55761026		2203	4300	6503	CCDC104	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000349456.4:c.415T>C	2.37:g.55761026T>C		Somatic	0	68	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q53SF0|Q53ST9|Q6UY34	Silent	SNP	34	2.86	1	27	0.00	0	pfam_ARF-like_2-bdp_dom	p.L164	ENST00000349456.4	37	c.490	CCDS1854.2	2																																																																																			-	NULL		0.363	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC104	protein_coding	OTTHUMT00000319610.2	T		-		55761026	1	no_errors	ENST00000339012	ensembl	human	known	74_37	silent	SNP	1.000	C	C	55761026	T	C	55761026	2	2	147	1	0	0	0	0	0	0	0	1	2741	1606	56	5		5	CCDC104	2	55761026	Silent	SNP	T	TCGA-HB-A5W3-01A-11D-A29N-09		55761026	187438347	3	10862											
INPP4A	3631	genome.wustl.edu	37	chr2	99169399	99169399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaggtctgccactggCcttgagaggacactcgccat	12	12	1	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr2:99169399C>T	ENST00000523221.1	+	13	1329	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.G443G|INPP4A_ENST00000409540.3_Silent_p.G443G|INPP4A_ENST00000409851.3_Silent_p.G438G|INPP4A_ENST00000409016.4_Silent_p.G443G|INPP4A_ENST00000074304.5_Silent_p.G443G			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	443					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTGCCACTGGCCTTGAGAGGA	0.577																																																	0								ENSG00000040933						39	40	40					2																	99169399		2011	4172	6183	INPP4A	SO:0001819	synonymous_variant	0			-	HGNC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1329C>T	2.37:g.99169399C>T		Somatic	0	27	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	25	0	0	32	39.62	21	superfamily_C2_dom	p.G443	ENST00000523221.1	37	c.1329	CCDS46369.1	2																																																																																			-	NULL		0.577	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	protein_coding	OTTHUMT00000376095.1	C	NM_001566	-		99169399	1	no_errors	ENST00000074304	ensembl	human	known	74_37	silent	SNP	0.990	T	T	99169399	C	T	99169399	2	4	147	1	0	0	0	0	0	0	0	1	7754	726	26	2		2	INPP4A	2	99169399	Silent	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	43408373	99169399	144029974	4	10863											
SAG	6295	genome.wustl.edu	37	chr2	234255546	234255546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagagagacaagaatgaCgttgatgagtgaagatgtcg	16	3	0	8			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr2:234255546C>T	ENST00000409110.1	+	16	1436	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	402					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACAAGAATGACGTTGATGAGT	0.448																																																	0								ENSG00000130561						93	98	96					2																	234255546		2010	4177	6187	SAG	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.1206C>T	2.37:g.234255546C>T		Somatic	0	63	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	35	45.31	A0FDN6|Q53SV3|Q99858	Silent	SNP	35	0	0	27	47.06	24	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.D402	ENST00000409110.1	37	c.1206	CCDS46545.1	2																																																																																			-	NULL		0.448	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	protein_coding	OTTHUMT00000330126.1	C	NM_000541	-		234255546	1	no_errors	ENST00000409110	ensembl	human	known	74_37	silent	SNP	0.000	T	T	234255546	C	T	234255546	2	4	147	1	0	0	0	0	0	0	0	1	13816	535	19	1		1	SAG	2	234255546	Silent	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	135086147	234255546	8943827	5	10864											
ZBBX	79740	genome.wustl.edu	37	chr3	167031769	167031769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatgttaccttttgaAttatctttataataagtaga	5	3	1	3			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr3:167031769A>G	ENST00000392766.2	-	16	1750	c.1410T>C	c.(1408-1410)aaT>aaC	p.N470N	ZBBX_ENST00000392764.1_Silent_p.N441N|ZBBX_ENST00000392767.2_Silent_p.N470N|ZBBX_ENST00000307529.5_Silent_p.N470N|ZBBX_ENST00000455345.2_Silent_p.N470N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	470						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TACCTTTTGAATTATCTTTAT	0.299																																																	0								ENSG00000169064						101	100	100					3																	167031769		1798	4069	5867	ZBBX	SO:0001819	synonymous_variant	0			-	HGNC	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1410T>C	3.37:g.167031769A>G		Somatic	0	25	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	17	48.48	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	28	0	0	40	42.03	29	pfam_Znf_B-box	p.N470	ENST00000392766.2	37	c.1410	CCDS3199.2	3																																																																																			-	NULL		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	protein_coding	OTTHUMT00000257657.3	A	NM_024687	-		167031769	-1	no_errors	ENST00000307529	ensembl	human	known	74_37	silent	SNP	0.001	G	G	167031769	A	G	167031769	2	3	147	1	0	0	0	0	0	0	0	1	17523	98	4	5		5	ZBBX	3	167031769	Silent	SNP	A	TCGA-HB-A5W3-01A-11D-A29N-09		167031769	30990661	6	10865											
MTNR1A	4543	genome.wustl.edu	37	chr4	187454917	187454917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatttaaccctatcggccaCgtcgttagagctgtccacaa	7	14	0	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr4:187454917C>T	ENST00000307161.5	-	2	1180	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	327					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)	p.V327M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTATCGGCCACGTCGTTAGAG	0.453																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000168412						136	133	134					4																	187454917		2203	4300	6503	MTNR1A	SO:0001583	missense	0			-	HGNC		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.979G>A	4.37:g.187454917C>T	ENSP00000302811:p.Val327Met	Somatic	0	83	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	48	42.86	A0AVC5|B0M0L2	Missense_Mutation	SNP	32	0	0	23	46.51	20	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C	p.V327M	ENST00000307161.5	37	c.979	CCDS3848.1	4	.	.	.	.	.	.	.	.	.	.	C	3.338	-0.135180	0.06711	.	.	ENSG00000168412	ENST00000307161	T	0.71579	-0.58	4.66	-0.47	0.12131	.	0.671283	0.14970	N	0.287848	T	0.50803	0.1637	L	0.28274	0.84	0.09310	N	1	B	0.24576	0.106	B	0.12156	0.007	T	0.40194	-0.9576	10	0.51188	T	0.08	-0.1175	6.5811	0.22594	0.0:0.581:0.1228:0.2962	.	327	P48039	MTR1A_HUMAN	M	327	ENSP00000302811:V327M	ENSP00000302811:V327M	V	-	1	0	MTNR1A	187691911	0.260000	0.24053	0.000000	0.03702	0.006000	0.05464	2.465000	0.45075	0.154000	0.19237	-0.140000	0.14226	GTG	-	prints_Mel_1A_rcpt,prints_Mel_rcpt_1C		0.453	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1A	protein_coding	OTTHUMT00000360189.1	C		-		187454917	-1	no_errors	ENST00000307161	ensembl	human	known	74_37	missense	SNP	0.049	T	T	187454917	C	T	187454917	3	4	147	1	0	0	0	0	1	0	0	0	9953	536	19	1	77	1	MTNR1A	4	187454917	Missense_Mutation	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09		187454917	3699359	7	10866											
CDH9	1007	genome.wustl.edu	37	chr5	26890055	26890055	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacagggatgtggctactttGttttgggttatctgcaacga	13	6	1	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr5:26890055G>C	ENST00000231021.4	-	9	1574	c.1402C>G	c.(1402-1404)Caa>Gaa	p.Q468E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	468	Cadherin 4. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGCTACTTTGTTTTGGGTTA	0.383																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						149	153	151					5																	26890055		2203	4300	6503	CDH9	SO:0001583	missense	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1402C>G	5.37:g.26890055G>C	ENSP00000231021:p.Gln468Glu	Somatic	0	63	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	96	9.43	Q3B7I5	Missense_Mutation	SNP	30	0	0	105	11.02	13	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q468E	ENST00000231021.4	37	c.1402	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191119	0.58017	.	.	ENSG00000113100	ENST00000231021	T	0.52983	0.64	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.125905	0.53938	D	0.000046	T	0.49236	0.1545	M	0.69358	2.11	0.47037	D	0.999298	B;B	0.12013	0.001;0.005	B;B	0.17979	0.013;0.02	T	0.41538	-0.9503	9	.	.	.	.	17.8599	0.88778	0.0:0.0:1.0:0.0	.	61;468	B4DFP0;Q9ULB4	.;CADH9_HUMAN	E	468	ENSP00000231021:Q468E	.	Q	-	1	0	CDH9	26925812	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.169000	0.71913	2.566000	0.86566	0.551000	0.68910	CAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	G	NM_016279	-		26890055	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26890055	G	C	26890055	3	2	147	1	0	0	0	0	1	0	0	0	3119	1386	48	4	983	4	CDH9	5	26890055	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		26890055	154025205	8	10867											
HTR4	3360	genome.wustl.edu	37	chr5	147863869	147863869	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatctaatgctcaatgtgcCtgagaatggacccgctctgg	10	11	3	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr5:147863869C>G	ENST00000377888.3	-	7	1215				HTR4_ENST00000314512.6_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.G384R|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000362016.2_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CTCAATGTGCCTGAGAATGGA	0.403																																					GBM(120;370 1604 14007 17804 41573)												0								ENSG00000164270						89	89	89					5																	147863869		2203	4300	6503	HTR4	SO:0001627	intron_variant	0			-	HGNC	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-1013G>C	5.37:g.147863869C>G		Somatic	0	22	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	34	0	0	54	1.82	1	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.G384R	ENST00000377888.3	37	c.1150	CCDS4291.1	5	.	.	.	.	.	.	.	.	.	.	C	2.428	-0.331583	0.05314	.	.	ENSG00000164270	ENST00000360693	T	0.72394	-0.65	4.06	3.17	0.36434	.	158.041000	0.00166	N	0.000000	T	0.54303	0.1850	.	.	.	0.19775	N	0.999958	B	0.02656	0.0	B	0.01281	0.0	T	0.43376	-0.9395	9	0.15499	T	0.54	.	7.0277	0.24950	0.0:0.8753:0.0:0.1247	.	384	Q712M9	.	R	384	ENSP00000353915:G384R	ENSP00000353915:G384R	G	-	1	0	HTR4	147844062	0.084000	0.21492	0.010000	0.14722	0.024000	0.10985	0.549000	0.23329	1.282000	0.44496	0.650000	0.86243	GGC	-	NULL		0.403	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	protein_coding	OTTHUMT00000252187.2	C	NM_000870	-		147863869	-1	no_errors	ENST00000360693	ensembl	human	known	74_37	missense	SNP	0.011	G	G	147863869	C	G	147863869	1	3	147	0	1	0	0	0	0	0	0	0	7451	681	24	4		4	HTR4	5	147863869	Intron	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	120973814	147863869	33051391	9	10868											
DLK2	65989	genome.wustl.edu	37	chr6	43420846	43420846	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcctcacacagcgctcacaGtgcagcccctcccagcccgg	8	20	2	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr6:43420846G>C	ENST00000357338.3	-	4	868	c.168C>G	c.(166-168)caC>caG	p.H56Q	DLK2_ENST00000372485.1_Missense_Mutation_p.H56Q|DLK2_ENST00000372488.3_Missense_Mutation_p.H56Q|DLK2_ENST00000414245.1_Missense_Mutation_p.H56Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	56	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCGCTCACAGTGCAGCCCCT	0.617																																																	0								ENSG00000171462						39	36	37					6																	43420846		2203	4300	6503	DLK2	SO:0001583	missense	0			-	HGNC	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.168C>G	6.37:g.43420846G>C	ENSP00000349893:p.His56Gln	Somatic	0	23	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	4	73.33	B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	30	0	0	7	69.57	16	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.H56Q	ENST00000357338.3	37	c.168	CCDS4897.1	6	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511931	0.44660	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.72	2.9	0.33743	EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.336037	0.31772	N	0.007090	T	0.07413	0.0187	N	0.01352	-0.895	0.34434	D	0.69886	B	0.22604	0.072	B	0.19946	0.027	T	0.09378	-1.0677	10	0.30078	T	0.28	.	9.1544	0.36983	0.2372:0.0:0.7628:0.0	.	56	Q6UY11	DLK2_HUMAN	Q	56	ENSP00000361563:H56Q;ENSP00000361566:H56Q;ENSP00000349893:H56Q;ENSP00000398906:H56Q	ENSP00000349893:H56Q	H	-	3	2	DLK2	43528824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.415000	0.34748	1.115000	0.41800	0.484000	0.47621	CAC	-	smart_EG-like_dom,pfscan_EG-like_dom		0.617	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DLK2	protein_coding	OTTHUMT00000040618.1	G	NM_023932	-		43420846	-1	no_errors	ENST00000357338	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43420846	G	C	43420846	3	2	147	1	0	0	0	0	1	0	0	0	4567	1020	36	4	995	4	DLK2	6	43420846	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		43420846	127694221	10	10869											
FRMD1	79981	genome.wustl.edu	37	chr6	168461515	168461515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggctccttctcatggagcCcgtggacctccaagggcacg	12	15	1	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr6:168461515C>T	ENST00000283309.6	-	9	1332	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	FRMD1_ENST00000440994.2_Missense_Mutation_p.G355E|FRMD1_ENST00000537786.1_Missense_Mutation_p.G194E|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	423						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCATGGAGCCCGTGGACCTC	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0								ENSG00000153303						46	42	44					6																	168461515		2203	4300	6503	FRMD1	SO:0001583	missense	0			-	HGNC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1268G>A	6.37:g.168461515C>T	ENSP00000283309:p.Gly423Glu	Somatic	0	83	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	63	41.12	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	36	0	0	27	44.90	22	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.G423E	ENST00000283309.6	37	c.1268	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.581746	0.00879	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.48836	0.8;0.8;0.8	2.48	-4.97	0.03029	.	2.404160	0.02924	U	0.138326	T	0.08582	0.0213	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.20052	0.026;0.041;0.035;0.011	B;B;B;B	0.19666	0.012;0.021;0.026;0.021	T	0.05989	-1.0852	10	0.02654	T	1	.	1.1834	0.01849	0.2188:0.3373:0.2613:0.1825	.	358;423;355;318	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	E	423;355;194	ENSP00000283309:G423E;ENSP00000414115:G355E;ENSP00000440078:G194E	ENSP00000283309:G423E	G	-	2	0	FRMD1	168204364	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.231000	0.09069	-0.986000	0.03498	0.313000	0.20887	GGG	-	NULL		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	protein_coding	OTTHUMT00000362513.2	C	NM_024919	-		168461515	-1	no_errors	ENST00000283309	ensembl	human	known	74_37	missense	SNP	0.000	T	T	168461515	C	T	168461515	3	4	147	1	0	0	0	0	1	0	0	0	6051	623	22	2	393	2	FRMD1	6	168461515	Missense_Mutation	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	125040669	168461515	2653552	11	10870											
PHYHIP	9796	genome.wustl.edu	37	chr8	22079106	22079106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaggggcaggcggtcGcggcagaagcggtcccccag	18	13	0	1	rs112627300		TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr8:22079106G>A	ENST00000321613.3	-	6	1209	c.753C>T	c.(751-753)cgC>cgT	p.R251R	PHYHIP_ENST00000454243.2_Silent_p.R251R	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	251										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCAGGCGGTCGCGGCAGAAGC	0.632													G|||	1	0.000199681	0	0	5008	,	,		16427	0.001		0	False		,,,				2504	0																0								ENSG00000168490	G	,	1,4211		0,1,2105	29	41	37		753,753	-11	0.4	8	dbSNP_132	37	1,8407		0,1,4203	no	coding-synonymous,coding-synonymous	PHYHIP	NM_001099335.1,NM_014759.3	,	0,2,6308	AA,AG,GG		0.0119,0.0237,0.0158	,	251/331,251/331	22079106	2,12618	2106	4204	6310	PHYHIP	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.753C>T	8.37:g.22079106G>A		Somatic	0	36	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	D3DSR1|Q8N4I9	Silent	SNP	32	0	0	21	31.25	10	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R251	ENST00000321613.3	37	c.753	CCDS43723.1	8																																																																																			-	NULL		0.632	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	protein_coding	OTTHUMT00000375388.1	G	NM_014759	rs112627300		22079106	-1	no_errors	ENST00000454243	ensembl	human	known	74_37	silent	SNP	0.060	A	A	22079106	G	A	22079106	2	1	147	1	0	0	0	0	0	0	0	1	11868	1074	38	1		1	PHYHIP	8	22079106	Silent	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		22079106	124284916	12	10871											
PLEKHA2	59339	genome.wustl.edu	37	chr8	38801336	38801336	+	Frame_Shift_Del	DEL	A	A	-													gctaccccaaaacagaaaccAaaaactccattttgctttgg							TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr8:38801336delA	ENST00000521746.1	+	4	462	c.228delA	c.(226-228)ccafs	p.P76fs	PLEKHA2_ENST00000420274.1_Frame_Shift_Del_p.P76fs|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	76	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AACAGAAACCAAAAACTCCAT	0.363																																																	0								ENSG00000169499						47	47	47					8																	38801336		1851	4097	5948	PLEKHA2	SO:0001589	frameshift_variant	0				HGNC	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.228delA	8.37:g.38801336delA	ENSP00000430938:p.Pro76fs	Somatic	0	39	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38		Frame_Shift_Del	DEL	36	0	0	31	0.00	0	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T78fs	ENST00000521746.1	37	c.228		8																																																																																			-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.363	PLEKHA2-002	PUTATIVE	basic	protein_coding	PLEKHA2	protein_coding	OTTHUMT00000377068.1	A	NM_021623			38801336	1	no_errors	ENST00000420274	ensembl	human	known	74_37	frame_shift_del	DEL	0.693	-	-	38801336	A	-	38801336	7	5	147	1	0	1	0	1	0	0	0	0	12058	117	5	0	238	0	PLEKHA2	8	38801336	Frame_Shift_Del	DEL	A	TCGA-HB-A5W3-01A-11D-A29N-09	16722230	38801336	107562686	13	10872											
KIAA1429	25962	genome.wustl.edu	37	chr8	95507155	95507155	+	Frame_Shift_Del	DEL	T	T	-													acatagatttcaactgatcaTccatgacatcagcaagcaca							TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr8:95507155delT	ENST00000297591.5	-	20	4649	c.4574delA	c.(4573-4575)gatfs	p.D1526fs	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAACTGATCATCCATGACATC	0.323																																																	0								ENSG00000164944						130	137	134					8																	95507155		2203	4300	6503	KIAA1429	SO:0001589	frameshift_variant	0				HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4574delA	8.37:g.95507155delT	ENSP00000297591:p.Asp1526fs	Somatic	0	32	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Del	DEL	33	0	0	46	0.00	0	superfamily_ARM-type_fold	p.D1525fs	ENST00000297591.5	37	c.4574	CCDS34923.1	8																																																																																			-	NULL		0.323	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	T	NM_015496			95507155	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	95507155	T	-	95507155	7	5	147	1	0	1	0	1	0	0	0	0	8233	1435	50	0	884	0	KIAA1429	8	95507155	Frame_Shift_Del	DEL	T	TCGA-HB-A5W3-01A-11D-A29N-09	56705819	95507155	50856867	14	10873											
ZHX1	11244	genome.wustl.edu	37	chr8	124266184	124266185	+	Frame_Shift_Ins	INS	-	-	T													catgtgcagctgctcaggtgINStttttttacatatcttgcct							TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr8:124266184_124266185insT	ENST00000522655.1	-	3	2542_2543	c.2002_2003insA	c.(2002-2004)acafs	p.T668fs	ZHX1_ENST00000395571.3_Frame_Shift_Ins_p.T668fs|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Frame_Shift_Ins_p.T668fs			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	668					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGCTCAGGTGTTTTTTTACAT	0.465																																																	0								ENSG00000165156																																			ZHX1	SO:0001589	frameshift_variant	0				HGNC	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2003dupA	8.37:g.124266191_124266191dupT	ENSP00000428821:p.Thr668fs	Somatic	0	63	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	Q8IWD8	Frame_Shift_Ins	INS	43	0	0	25	37.50	15	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.T668fs	ENST00000522655.1	37	c.2003_2002	CCDS6342.1	8																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.465	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	protein_coding	OTTHUMT00000381759.1	-				124266185	-1	no_errors	ENST00000297857	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.969	T	T	124266185	-	T	124266184	7	5	147	1	0	1	1	0	0	0	0	0	17682	1377	48	0	622	0	ZHX1	8	124266184	Frame_Shift_Ins	INS	-	TCGA-HB-A5W3-01A-11D-A29N-09	28759029	124266184	22097838	15	10874											
RUSC2	9853	genome.wustl.edu	37	chr9	35560483	35560483	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagctcccaggtctacatCgatggctccattgagggttc	11	12	1	2			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr9:35560483C>T	ENST00000455600.1	+	10	4415	c.3846C>T	c.(3844-3846)atC>atT	p.I1282I	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1282						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.I1282I(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTCTACATCGATGGCTCCA	0.657																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000198853						50	59	56					9																	35560483		2203	4299	6502	RUSC2	SO:0001819	synonymous_variant	0			-	HGNC	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3846C>T	9.37:g.35560483C>T		Somatic	0	44	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	22	0	0	29	25.64	10	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.I1282	ENST00000455600.1	37	c.3846	CCDS35008.1	9																																																																																			-	NULL		0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	protein_coding	OTTHUMT00000052309.1	C	XM_048462	-		35560483	1	no_errors	ENST00000361226	ensembl	human	known	74_37	silent	SNP	0.938	T	T	35560483	C	T	35560483	2	4	147	1	0	0	0	0	0	0	0	1	13759	874	31	1		1	RUSC2	9	35560483	Silent	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09		35560483	105652948	16	10875											
LRRC20	55222	genome.wustl.edu	37	chr10	72083656	72083656	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggttgatggtctccagCgccggcagggcggtaagctg	16	11	1	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr10:72083656C>A	ENST00000355790.4	-	4	840	c.363G>T	c.(361-363)gcG>gcT	p.A121A	LRRC20_ENST00000358141.2_Silent_p.A71A|LRRC20_ENST00000395011.1_Silent_p.A71A|LRRC20_ENST00000373224.1_Silent_p.A121A|LRRC20_ENST00000395010.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	121										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TGGTCTCCAGCGCCGGCAGGG	0.657																																																	0								ENSG00000172731						73	67	69					10																	72083656		2203	4300	6503	LRRC20	SO:0001819	synonymous_variant	0			-	HGNC	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.363G>T	10.37:g.72083656C>A		Somatic	0	31	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	9	59.09	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Silent	SNP	28	0	0	4	82.61	19	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A121	ENST00000355790.4	37	c.363	CCDS7302.1	10																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.657	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC20	protein_coding	OTTHUMT00000048510.1	C	NM_018239	-		72083656	-1	no_errors	ENST00000355790	ensembl	human	known	74_37	silent	SNP	0.006	A	A	72083656	C	A	72083656	2	1	147	1	0	0	0	0	0	0	0	1	8979	755	27	3		3	LRRC20	10	72083656	Silent	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09		72083656	63451091	17	10876											
DNHD1	144132	genome.wustl.edu	37	chr11	6566849	6566849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcccaaggtgggcaGtccctgccttctgtccgcca	12	15	1	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr11:6566849G>T	ENST00000527990.2	+	19	4680	c.4680G>T	c.(4678-4680)caG>caT	p.Q1560H	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q1560H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1560					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAGGTGGGCAGTCCCTGCCTT	0.587																																																	0								ENSG00000179532						44	41	42					11																	6566849		692	1591	2283	DNHD1	SO:0001583	missense	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4680G>T	11.37:g.6566849G>T	ENSP00000436180:p.Gln1560His	Somatic	0	20	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	26	0	0	29	0.00	0	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.Q1560H	ENST00000527990.2	37	c.4680	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359622	0.24598	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.46819	0.86;0.86	5.76	0.09	0.14461	.	0.761271	0.12815	N	0.436875	T	0.36991	0.0987	L	0.60455	1.87	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39921	-0.9590	10	0.62326	D	0.03	.	1.9055	0.03276	0.2476:0.2148:0.4156:0.1219	.	1560	Q96M86	DNHD1_HUMAN	H	1560	ENSP00000254579:Q1560H;ENSP00000436180:Q1560H	ENSP00000254579:Q1560H	Q	+	3	2	DNHD1	6523425	0.000000	0.05858	0.002000	0.10522	0.251000	0.25915	-0.209000	0.09358	0.275000	0.22094	0.655000	0.94253	CAG	-	NULL		0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	G	NM_144666	-		6566849	1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6566849	G	T	6566849	3	4	147	1	0	0	0	0	1	0	0	0	4670	1020	36	3	4763	3	DNHD1	11	6566849	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		6566849	128439667	18	10877											
OR5M8	219484	genome.wustl.edu	37	chr11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggagaatttgtaattccCggcgactggtcagtcccagg	13	9	1	2	rs574852072	byFrequency	TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						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(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483													C|||	4	0.000798722	0	0.0014	5008	,	,		19178	0		0	False		,,,				2504	0.0031																0								ENSG00000181371						80	85	83					11																	56258788		2201	4296	6497	OR5M8	SO:0001583	missense	0			-	HGNC	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.59G>A	11.37:g.56258788C>T	ENSP00000323354:p.Arg20Gln	Somatic	0	18	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	36	0	0	22	56.00	28	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20Q	ENST00000327216.2	37	c.59	CCDS31533.1	11	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945463	0.18356	.	.	ENSG00000181371	ENST00000327216	T	0.00433	7.43	4.13	-7.18	0.01505	.	1.292630	0.06259	U	0.693636	T	0.00144	0.0004	N	0.03154	-0.405	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.36915	-0.9728	10	0.39692	T	0.17	0.1659	3.5083	0.07699	0.209:0.2522:0.4222:0.1166	.	20	Q8NGP6	OR5M8_HUMAN	Q	20	ENSP00000323354:R20Q	ENSP00000323354:R20Q	R	-	2	0	OR5M8	56015364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.691000	0.00198	-1.486000	0.01851	-1.292000	0.01352	CGG	-	NULL		0.483	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	protein_coding	OTTHUMT00000391641.1	C	NM_001005282	-		56258788	-1	no_errors	ENST00000327216	ensembl	human	known	74_37	missense	SNP	0.000	T	T	56258788	C	T	56258788	3	4	147	1	0	0	0	0	1	0	0	0	11178	652	23	1	880	1	OR5M8	11	56258788	Missense_Mutation	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	49691939	56258788	78747728	19	10878											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73021059	73021059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaaaagagtcgacagcGgaagtccctgtcaaatccag	11	11	1	2			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr11:73021059G>T	ENST00000263674.3	+	1	1726	c.1376G>T	c.(1375-1377)cGg>cTg	p.R459L	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	459					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGTCGACAGCGGAAGTCCCTG	0.582																																																	0								ENSG00000110237						73	78	76					11																	73021059		2200	4293	6493	ARHGEF17	SO:0001583	missense	0			-	HGNC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1376G>T	11.37:g.73021059G>T	ENSP00000263674:p.Arg459Leu	Somatic	0	31	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	29	0	0	6	77.78	21	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.R459L	ENST00000263674.3	37	c.1376	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595191	0.46318	.	.	ENSG00000110237	ENST00000263674	T	0.63913	-0.07	5.13	5.13	0.70059	.	0.293946	0.28088	N	0.016654	T	0.64000	0.2559	L	0.27053	0.805	0.33909	D	0.639432	D	0.58268	0.982	P	0.54759	0.76	T	0.75456	-0.3311	10	0.87932	D	0	-15.9157	17.1507	0.86777	0.0:0.0:1.0:0.0	.	459	Q96PE2	ARHGH_HUMAN	L	459	ENSP00000263674:R459L	ENSP00000263674:R459L	R	+	2	0	ARHGEF17	72698707	1.000000	0.71417	0.899000	0.35326	0.495000	0.33615	5.328000	0.65887	2.387000	0.81309	0.462000	0.41574	CGG	-	NULL		0.582	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	protein_coding	OTTHUMT00000397365.1	G	NM_014786	-		73021059	1	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	SNP	0.936	T	T	73021059	G	T	73021059	3	4	147	1	0	0	0	0	1	0	0	0	900	1116	39	3	1378	3	ARHGEF17	11	73021059	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09	16762271	73021059	61985457	20	10879											
NUFIP1	26747	genome.wustl.edu	37	chr13	45556291	45556292	+	Splice_Site	INS	-	-	A													gataataagaatttttaactINSaaaaaaaaaaagatccataa					rs545776140		TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr13:45556291_45556292insA	ENST00000379161.4	-	2	459		c.e2-2		RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1						box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AATTTTTAACTAAAAAAAAAAA	0.248																																																	0								ENSG00000083635																																			NUFIP1	SO:0001630	splice_region_variant	0				HGNC	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.413-2->T	13.37:g.45556302_45556302dupA		Somatic	0	30	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q8WVM5|Q96SG1	Splice_Site	INS	35	2.78	1	40	0.00	0	-	e2-2	ENST00000379161.4	37	c.413-3_413-2	CCDS9393.1	13																																																																																			-	-		0.248	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	protein_coding	OTTHUMT00000044755.2	-	NM_012345		Intron	45556292	-1	no_errors	ENST00000379161	ensembl	human	known	74_37	splice_site_ins	INS	0.631:0.474	A	A	45556292	-	A	45556291	8	5	147	1	0	1	1	0	0	0	1	0	10750	1536	53	0	1112	0	NUFIP1	13	45556291	Splice_Site	INS	-	TCGA-HB-A5W3-01A-11D-A29N-09		45556291	69613587	21	10880											
TFDP1	7027	genome.wustl.edu	37	chr13	114277516	114277516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgtccctcgtggccgTtcacccctccaccgtcaacc	9	19	2	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr13:114277516T>G	ENST00000375370.5	+	4	313	c.101T>G	c.(100-102)gTt>gGt	p.V34G	TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_5'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	34					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTCGTGGCCGTTCACCCCTCC	0.547										TSP Lung(29;0.18)																																							0								ENSG00000198176						104	79	88					13																	114277516		2202	4300	6502	TFDP1	SO:0001583	missense	0			-	HGNC	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.101T>G	13.37:g.114277516T>G	ENSP00000364519:p.Val34Gly	Somatic	0	46	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	11	69.44	B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	28	0	0	8	75.00	24	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.V34G	ENST00000375370.5	37	c.101	CCDS9538.1	13	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634184	0.47049	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.34667	1.79;1.38;1.35	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.997	T	0.52510	-0.8566	10	0.22109	T	0.4	.	14.0931	0.65004	0.0:0.0:0.0:1.0	.	34;34;34	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	G	34	ENSP00000364519:V34G;ENSP00000386145:V34G;ENSP00000401389:V34G	ENSP00000364519:V34G	V	+	2	0	TFDP1	113325517	1.000000	0.71417	0.112000	0.21494	0.149000	0.21700	6.559000	0.73946	1.727000	0.51537	0.402000	0.26972	GTT	-	pirsf_Transcrpt_fac_DP		0.547	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP1	protein_coding	OTTHUMT00000045918.3	T	NM_007111	-		114277516	1	no_errors	ENST00000375370	ensembl	human	known	74_37	missense	SNP	1.000	G	G	114277516	T	G	114277516	3	3	147	1	0	0	0	0	1	0	0	0	15804	1725	60	5	111	5	TFDP1	13	114277516	Missense_Mutation	SNP	T	TCGA-HB-A5W3-01A-11D-A29N-09	68721225	114277516	892362	22	10881											
SLC27A2	11001	genome.wustl.edu	37	chr15	50515326	50515326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattatgcgagaaaagttggTgctgttggaagagtaaacta	12	3	0	2			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr15:50515326T>C	ENST00000267842.5	+	5	1369	c.1137T>C	c.(1135-1137)ggT>ggC	p.G379G	SLC27A2_ENST00000544960.1_Silent_p.G144G|SLC27A2_ENST00000380902.4_Silent_p.G326G|Y_RNA_ENST00000363735.1_RNA	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	379					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAAAAGTTGGTGCTGTTGGAA	0.378																																																	0								ENSG00000140284						128	118	121					15																	50515326		2196	4295	6491	SLC27A2	SO:0001819	synonymous_variant	0			-	HGNC	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1137T>C	15.37:g.50515326T>C		Somatic	0	43	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	A8K2J7|Q53FY6|Q6PF09	Silent	SNP	36	0	0	34	46.97	31	pfam_AMP-dep_Synth/Lig	p.G379	ENST00000267842.5	37	c.1137	CCDS10133.1	15																																																																																			-	pfam_AMP-dep_Synth/Lig		0.378	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	protein_coding	OTTHUMT00000254539.2	T	NM_003645	-		50515326	1	no_errors	ENST00000267842	ensembl	human	known	74_37	silent	SNP	0.775	C	C	50515326	T	C	50515326	2	2	147	1	0	0	0	0	0	0	0	1	14534	1683	59	5		5	SLC27A2	15	50515326	Silent	SNP	T	TCGA-HB-A5W3-01A-11D-A29N-09		50515326	52016066	23	10882											
TP53	7157	genome.wustl.edu	37	chr17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaagatgacaggggcCaggagggggctggtgcaggg	22	6	0	3			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr17:7579415C>T	ENST00000269305.4	-	4	461	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (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.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(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)	TGACAGGGGCCAGGAGGGGGC	0.632		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	25	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Nonsense(7)	lung(7)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|prostate(1)|liver(1)						ENSG00000141510						44	50	48					17																	7579415		2202	4299	6501	TP53	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;	-	HGNC	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.272G>A	17.37:g.7579415C>T	ENSP00000269305:p.Trp91*	Somatic	0	54	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	5	77.27	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	Nonsense_Mutation	SNP	32	0	0	7	75.00	21	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W91*	ENST00000269305.4	37	c.272	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911071	0.72983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.08	4.08	0.47627	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	14.5887	0.68347	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	2	0	TP53	7520140	0.997000	0.39634	0.998000	0.56505	0.633000	0.38033	-0.143000	0.10296	2.561000	0.86390	0.561000	0.74099	TGG	-	NULL		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7579415	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	7579415	C	T	7579415	4	4	147	1	0	0	0	0	0	1	0	0	16388	595	21	2	1030	2	TP53	17	7579415	Nonsense_Mutation	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09		7579415	73615795	24	10883											
KLHL11	55175	genome.wustl.edu	37	chr17	40011164	40011164	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtcagcgaccaacttgaCacaaacttcattattggcta	7	11	2	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr17:40011164C>G	ENST00000319121.3	-	2	1015	c.955G>C	c.(955-957)Gtc>Ctc	p.V319L		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	319										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ACCAACTTGACACAAACTTCA	0.463																																																	0								ENSG00000178502						84	81	82					17																	40011164		2203	4300	6503	KLHL11	SO:0001583	missense	0			-	HGNC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"Kelch-like", "BTB/POZ domain containing"	19008	protein-coding gene	gene with protein product			"kelch-like 11 (Drosophila)"				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.955G>C	17.37:g.40011164C>G	ENSP00000314608:p.Val319Leu	Somatic	0	29	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58		Missense_Mutation	SNP	28	0	0	39	40.00	26	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.V319L	ENST00000319121.3	37	c.955	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562479	0.27915	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.70045	-0.45	5.72	5.72	0.89469	.	0.134395	0.51477	D	0.000087	T	0.44993	0.1320	N	0.03608	-0.345	0.42605	D	0.993292	B	0.02656	0.0	B	0.01281	0.0	T	0.40905	-0.9538	10	0.42905	T	0.14	-13.5677	14.7139	0.69254	0.0:0.7354:0.2646:0.0	.	319	Q9NVR0	KLH11_HUMAN	L	319;182	ENSP00000314608:V319L	ENSP00000314608:V319L	V	-	1	0	KLHL11	37264690	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	5.252000	0.65445	2.687000	0.91594	0.591000	0.81541	GTC	-	NULL		0.463	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	protein_coding	OTTHUMT00000257464.2	C	NM_018143	-		40011164	-1	no_errors	ENST00000319121	ensembl	human	known	74_37	missense	SNP	0.997	G	G	40011164	C	G	40011164	3	3	147	1	0	0	0	0	1	0	0	0	8369	478	17	4	1175	4	KLHL11	17	40011164	Missense_Mutation	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	32431749	40011164	41184046	25	10884											
ARHGAP27	201176	genome.wustl.edu	37	chr17	43474297	43474297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacctgcattcggtcgcgCgtcctcctctttctcctgcc	7	19	2	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr17:43474297C>T	ENST00000428638.1	-	11	1935	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T	CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.A424T|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.A305T|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.A305T|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A619T|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A624T|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.A278T			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	646					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TTCGGTCGCGCGTCCTCCTCT	0.672																																																	0								ENSG00000159314						72	64	67					17																	43474297		2203	4300	6503	ARHGAP27	SO:0001583	missense	0			-	HGNC	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1936G>A	17.37:g.43474297C>T	ENSP00000403323:p.Ala646Thr	Somatic	0	60	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	36	30.19	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	26	0	0	21	44.74	17	pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.A646T	ENST00000428638.1	37	c.1936		17	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859759	0.17178	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.08282	3.11;3.11;3.12;3.17;3.17;3.17;3.11	4.38	-8.04	0.01110	.	2.667510	0.01416	N	0.014199	T	0.04318	0.0119	L	0.38175	1.15	0.09310	N	1	B;B	0.32382	0.001;0.368	B;B	0.22753	0.001;0.041	T	0.35871	-0.9771	10	0.13853	T	0.58	.	1.6964	0.02863	0.1974:0.3294:0.0976:0.3756	.	619;646	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	T	424;305;278;624;646;619;305	ENSP00000432762:A424T;ENSP00000366121:A305T;ENSP00000431591:A278T;ENSP00000433942:A624T;ENSP00000403323:A646T;ENSP00000409330:A619T;ENSP00000408235:A305T	ENSP00000366121:A305T	A	-	1	0	ARHGAP27	40830080	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.907000	0.04067	-1.679000	0.01452	-0.379000	0.06801	GCG	-	NULL		0.672	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	protein_coding		C	NM_199282	-		43474297	-1	no_errors	ENST00000428638	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43474297	C	T	43474297	3	4	147	1	0	0	0	0	1	0	0	0	876	768	27	1	761	1	ARHGAP27	17	43474297	Missense_Mutation	SNP	C	TCGA-HB-A5W3-01A-11D-A29N-09	3463133	43474297	37720913	26	10885											
ABCC3	8714	genome.wustl.edu	37	chr17	48757261	48757261	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaagacagagacagagGtgggtactggcatgagcccg	14	10	0	4			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr17:48757261G>A	ENST00000285238.8	+	26	3887		c.e26+1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						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)	AGAGACAGAGGTGGGTACTGG	0.527																																																	0								ENSG00000108846						90	76	81					17																	48757261		2203	4300	6503	ABCC3	SO:0001630	splice_region_variant	0			-	HGNC	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.3807+1G>A	17.37:g.48757261G>A		Somatic	0	31	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Splice_Site	SNP	38	0	0	30	41.18	21	-	e26+1	ENST00000285238.8	37	c.3807+1	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865223	0.71949	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1785	0.89769	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC3	46112260	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	9.764000	0.98949	2.263000	0.75096	0.655000	0.94253	.	-	-		0.527	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	G	NM_020038	-	Intron	48757261	1	no_errors	ENST00000285238	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	48757261	G	A	48757261	5	1	147	1	0	0	0	0	0	0	1	0	54	1275	44	2	3994	2	ABCC3	17	48757261	Splice_Site	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09	5282964	48757261	32437949	27	10886											
PTPRM	5797	genome.wustl.edu	37	chr18	8244162	8244162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagcagggcacaaactgcGacgaggctttctcattcatg	11	11	2	1			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr18:8244162G>A	ENST00000332175.8	+	15	3444	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	PTPRM_ENST00000580170.1_Missense_Mutation_p.D803N|PTPRM_ENST00000400060.4_Missense_Mutation_p.D803N|PTPRM_ENST00000400053.4_Missense_Mutation_p.D741N|PTPRM_ENST00000444013.1_Missense_Mutation_p.D590N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	803					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CACAAACTGCGACGAGGCTTT	0.488																																																	0								ENSG00000173482						158	141	147					18																	8244162		2203	4300	6503	PTPRM	SO:0001583	missense	0			-	HGNC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2407G>A	18.37:g.8244162G>A	ENSP00000331418:p.Asp803Asn	Somatic	0	47	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	24	50.00	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	29	0	0	14	54.55	18	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D803N	ENST00000332175.8	37	c.2407	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.548658	0.96488	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50548	1.12;1.08;0.91;0.74	5.71	5.71	0.89125	.	0.050312	0.85682	D	0.000000	T	0.42131	0.1189	L	0.39898	1.24	0.80722	D	1	P;P;P	0.43352	0.782;0.804;0.804	B;B;B	0.38296	0.27;0.163;0.163	T	0.18935	-1.0321	10	0.26408	T	0.33	.	19.8593	0.96777	0.0:0.0:1.0:0.0	.	590;803;803	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	803;803;741;590	ENSP00000331418:D803N;ENSP00000382933:D803N;ENSP00000382927:D741N;ENSP00000387608:D590N	ENSP00000331418:D803N	D	+	1	0	PTPRM	8234162	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	9.869000	0.99810	2.700000	0.92200	0.557000	0.71058	GAC	-	NULL		0.488	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	G		-		8244162	1	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8244162	G	A	8244162	3	1	147	1	0	0	0	0	1	0	0	0	12814	1058	37	1	2465	1	PTPRM	18	8244162	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		8244162	69833086	28	10887											
TYK2	7297	genome.wustl.edu	37	chr19	10463145	10463145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagtcacagtgcgtcaGcagctcatacagggtcaccc	12	13	4	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chr19:10463145G>A	ENST00000525621.1	-	23	3764	c.3283C>T	c.(3283-3285)Ctg>Ttg	p.L1095L	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Silent_p.L1095L|TYK2_ENST00000524462.1_Silent_p.L910L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1095	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGTGCGTCAGCAGCTCATAC	0.607																																																	0								ENSG00000105397						79	81	80					19																	10463145		2203	4300	6503	TYK2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3283C>T	19.37:g.10463145G>A		Somatic	0	63	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	41	41.43	Q6QB10|Q96CH0	Silent	SNP	22	0	0	25	37.50	15	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.L1095	ENST00000525621.1	37	c.3283	CCDS12236.1	19																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	protein_coding	OTTHUMT00000389443.1	G		-		10463145	-1	no_errors	ENST00000264818	ensembl	human	known	74_37	silent	SNP	1.000	A	A	10463145	G	A	10463145	2	1	147	1	0	0	0	0	0	0	0	1	16817	962	34	2		2	TYK2	19	10463145	Silent	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		10463145	48665838	29	10888											
DMD	1756	genome.wustl.edu	37	chrX	32481570	32481570	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctatacctgttggcacatgtGatcccactgagtgttaagtt	9	9	0	2			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chrX:32481570G>T	ENST00000357033.4	-	25	3624	c.3418C>A	c.(3418-3420)Cac>Aac	p.H1140N	DMD_ENST00000378677.2_Missense_Mutation_p.H1136N	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	1140					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)				TGGCACATGTGATCCCACTGA	0.428																																																	0								ENSG00000198947						258	162	194					X																	32481570		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.3418C>A	X.37:g.32481570G>T	ENSP00000354923:p.His1140Asn	Somatic	0	83	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	33	50.75	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	26	0	0	29	30.95	13	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.H1140N	ENST00000357033.4	37	c.3418	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	6.739	0.505197	0.12822	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.43	-3.95	0.04118	.	0.410909	0.16739	U	0.201519	T	0.26376	0.0644	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.15484	0.0;0.013;0.0	T	0.16041	-1.0416	10	0.21014	T	0.42	.	2.8698	0.05613	0.4026:0.1033:0.3862:0.1079	.	1132;1140;1136	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	N	1132;1136;1140;1140;1017	ENSP00000367948:H1136N;ENSP00000354923:H1140N	ENSP00000354923:H1140N	H	-	1	0	DMD	32391491	0.001000	0.12720	0.000000	0.03702	0.565000	0.35776	-0.099000	0.11007	-1.738000	0.01348	0.436000	0.28706	CAC	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006	-		32481570	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	0.016	T	T	32481570	G	T	32481570	3	4	147	1	0	0	0	0	1	0	0	0	4582	1290	45	3	8102	3	DMD	23	32481570	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09		32481570	122788990	30	10889											
KDM5C	8242	genome.wustl.edu	37	chrX	53239969	53239969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccagagatatctgcaTtgatgtggcacagtacagac	10	9	2	3			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chrX:53239969T>C	ENST00000375401.3	-	11	2004	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	KDM5C_ENST00000404049.3_Missense_Mutation_p.N490S|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Missense_Mutation_p.N424S|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375383.3_Missense_Mutation_p.N450S|KDM5C_ENST00000375379.3_Missense_Mutation_p.N491S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	491	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GATATCTGCATTGATGTGGCA	0.488			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						173	118	137					X																	53239969		2203	4300	6503	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1472A>G	X.37:g.53239969T>C	ENSP00000364550:p.Asn491Ser	Somatic	0	45	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	30	0	0	39	32.76	19	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.N491S	ENST00000375401.3	37	c.1472	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701105	0.68501	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.86164	-2.08;-1.78;-1.78;-1.78;-1.92	5.42	5.42	0.78866	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	L	0.49640	1.575	0.53005	D	0.999967	P;P;P	0.45283	0.712;0.855;0.855	B;P;P	0.48334	0.395;0.574;0.574	D	0.87553	0.2466	10	0.59425	D	0.04	-19.0654	12.2755	0.54733	0.0:0.0:0.0:1.0	.	424;490;491	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	S	424;491;490;491;450	ENSP00000445176:N424S;ENSP00000364550:N491S;ENSP00000385394:N490S;ENSP00000364528:N491S;ENSP00000364532:N450S	ENSP00000364528:N491S	N	-	2	0	KDM5C	53256694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.133000	0.64764	1.803000	0.52742	0.486000	0.48141	AAT	-	smart_JmjC_dom,pfscan_JmjC_dom		0.488	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	T	NM_004187	-		53239969	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53239969	T	C	53239969	3	2	147	1	0	0	0	0	1	0	0	0	8137	1493	52	5	3372	5	KDM5C	23	53239969	Missense_Mutation	SNP	T	TCGA-HB-A5W3-01A-11D-A29N-09	20758399	53239969	102030591	31	10890											
ARL13A	392509	genome.wustl.edu	37	chrX	100229170	100229170	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggcaaaactgttcttgtGgaggcattccaaaaatgtaa	9	7	2	0			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chrX:100229170G>T	ENST00000450049.2	+	3	227	c.114G>T	c.(112-114)gtG>gtT	p.V38V		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	38					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						CTGTTCTTGTGGAGGCATTCC	0.418																																																	0								ENSG00000174225						84	68	73					X																	100229170		1849	4068	5917	ARL13A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	31709	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 13"	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.114G>T	X.37:g.100229170G>T		Somatic	0	61	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	32	48.39	B2RTT6|B4DX50	Silent	SNP	29	0	0	32	39.62	21	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.V38	ENST00000450049.2	37	c.114	CCDS55463.1	X																																																																																			-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR		0.418	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ARL13A	protein_coding	OTTHUMT00000057504.2	G	XM_373358	-		100229170	1	no_errors	ENST00000450457	ensembl	human	known	74_37	silent	SNP	0.000	T	T	100229170	G	T	100229170	2	4	147	1	0	0	0	0	0	0	0	1	928	1335	47	3		3	ARL13A	23	100229170	Silent	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09	46989201	100229170	55041390	32	10891											
MCF2	4168	genome.wustl.edu	37	chrX	138678809	138678809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctttttcatacaagaaaaGgtgtcgctgcattggtttga	11	6	1	2			TCGA-HB-A5W3-01A-11D-A29N-09	TCGA-HB-A5W3-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d4eff82-ede0-47f1-b49a-ada025952114	546cfd48-e472-4186-a83a-09f5aef53000	g.chrX:138678809G>T	ENST00000370576.4	-	19	2385	c.2176C>A	c.(2176-2178)Ctt>Att	p.L726I	MCF2_ENST00000520602.1_Missense_Mutation_p.L786I|MCF2_ENST00000414978.1_Missense_Mutation_p.L786I|MCF2_ENST00000519895.1_Missense_Mutation_p.L802I|MCF2_ENST00000370578.4_Missense_Mutation_p.L871I|MCF2_ENST00000370573.4_Missense_Mutation_p.L726I|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000536274.1_Missense_Mutation_p.L687I|MCF2_ENST00000338585.6_Missense_Mutation_p.L742I	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	726	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACAAGAAAAGGTGTCGCTGC	0.408																																																	0								ENSG00000101977						145	121	129					X																	138678809		2203	4300	6503	MCF2	SO:0001583	missense	0			-	HGNC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2176C>A	X.37:g.138678809G>T	ENSP00000359608:p.Leu726Ile	Somatic	0	80	0		0.662580936031976				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	28	50.00	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	28	0	0	25	51.92	27	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L871I	ENST00000370576.4	37	c.2611	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.064363|2.064363	0.36470|0.36470	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68|.	5.88|5.88	0.644|0.644	0.17776|0.17776	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.169822|.	0.53938|.	N|.	0.000054|.	T|T	0.61426|0.61426	0.2346|0.2346	L|L	0.53671|0.53671	1.685|1.685	0.35869|0.35869	D|D	0.828072|0.828072	B;B;B;B;B;B;B;B|.	0.28971|.	0.012;0.147;0.02;0.012;0.02;0.012;0.229;0.012|.	B;B;B;B;B;B;B;B|.	0.41894|.	0.046;0.203;0.099;0.046;0.099;0.034;0.369;0.046|.	T|T	0.63699|0.63699	-0.6578|-0.6578	10|5	0.18276|.	T|.	0.48|.	.|.	15.251|15.251	0.73545|0.73545	0.0:0.0:0.3938:0.6062|0.0:0.0:0.3938:0.6062	.|.	802;871;687;726;726;871;742;726|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	I|H	786;726;687;871;786;329;802;726;742|229	ENSP00000427745:L786I;ENSP00000359608:L726I;ENSP00000438155:L687I;ENSP00000359610:L871I;ENSP00000397055:L786I;ENSP00000405848:L329I;ENSP00000430276:L802I;ENSP00000359605:L726I;ENSP00000342204:L742I|.	ENSP00000342204:L742I|.	L|P	-|-	1|2	0|0	MCF2|MCF2	138506475|138506475	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.924000|0.924000	0.55760|0.55760	1.874000|1.874000	0.39568|0.39568	-0.331000|-0.331000	0.08501|0.08501	0.600000|0.600000	0.82982|0.82982	CTT|CCT	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.408	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	protein_coding	OTTHUMT00000058560.1	G	NM_005369	-		138678809	-1	no_errors	ENST00000370578	ensembl	human	known	74_37	missense	SNP	0.977	T	T	138678809	G	T	138678809	3	4	147	1	0	0	0	0	1	0	0	0	9380	1000	35	3	657	3	MCF2	23	138678809	Missense_Mutation	SNP	G	TCGA-HB-A5W3-01A-11D-A29N-09	38449639	138678809	16591751	33	10892											
CNKSR1	10256	genome.wustl.edu	37	chr1	26511667	26511667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacgctctactggtaccGccagccccaggtaagacccc	8	18	1	1			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:26511667G>A	ENST00000374253.5	+	14	1358	c.1319G>A	c.(1318-1320)cGc>cAc	p.R440H	CNKSR1_ENST00000531191.1_Missense_Mutation_p.R175H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R433H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	440	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGGTACCGCCAGCCCCAG	0.582																																					NSCLC(180;1396 2109 28270 30756 34275)												0								ENSG00000142675																																			CNKSR1	SO:0001583	missense	0			-	HGNC	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1319G>A	1.37:g.26511667G>A	ENSP00000363371:p.Arg440His	Somatic	0	24	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	B1AMW9|O95381	Missense_Mutation	SNP							pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R440H	ENST00000374253.5	37	c.1319		1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590231	0.46214	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.377447	0.29459	N	0.012083	T	0.65943	0.2740	L	0.52573	1.65	0.35713	D	0.816531	B;B	0.22211	0.066;0.066	B;B	0.12837	0.008;0.008	T	0.67841	-0.5566	10	0.40728	T	0.16	-8.19	9.0988	0.36656	0.2256:0.0:0.7744:0.0	.	440;433	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	433;440;175	ENSP00000354609:R433H;ENSP00000363371:R440H;ENSP00000431817:R175H	ENSP00000354609:R433H	R	+	2	0	CNKSR1	26384254	0.008000	0.16893	1.000000	0.80357	0.993000	0.82548	1.205000	0.32308	1.339000	0.45563	0.650000	0.86243	CGC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.582	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	protein_coding	OTTHUMT00000089943.2	G	NM_006314	-		26511667	1	no_errors	ENST00000374253	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26511667	G	A	26511667	3	1	148	1	0	0	0	0	1	0	0	0	3608	1087	38	1	1352	1	CNKSR1	1	26511667	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		26511667	222738954	1	10893											
ARID1A	8289	genome.wustl.edu	37	chr1	27088786	27088786	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggggagctatggtcccCaggggggtcagtatggccca	16	11	1	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:27088786C>T	ENST00000324856.7	+	7	2766	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q416*|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q799*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	799					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)		CTATGGTCCCCAGGGGGGTCA	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0								ENSG00000117713						53	57	55					1																	27088786		2203	4300	6503	ARID1A	SO:0001587	stop_gained	0			-	HGNC	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.2395C>T	1.37:g.27088786C>T	ENSP00000320485:p.Gln799*	Somatic	0	30	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q799*	ENST00000324856.7	37	c.2395	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.743778	0.98465	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9253	19.428	0.94751	0.0:1.0:0.0:0.0	.	.	.	.	X	799;799;416	.	ENSP00000320485:Q799X	Q	+	1	0	ARID1A	26961373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.824000	0.97209	0.655000	0.94253	CAG	-	NULL		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	C	NM_139135	-		27088786	1	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	27088786	C	T	27088786	4	4	148	1	0	0	0	0	0	1	0	0	913	595	21	2	2421	2	ARID1A	1	27088786	Nonsense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	577119	27088786	222161835	2	10894											
RLF	6018	genome.wustl.edu	37	chr1	40661333	40661333	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgcattattggaatttggGaataataacctacaaatatt	7	4	0	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:40661333G>A	ENST00000372771.4	+	4	531	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	168					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATTTGGGAATAATAACC	0.358																																																	0								ENSG00000117000						67	67	67					1																	40661333		2203	4300	6503	RLF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.504G>A	1.37:g.40661333G>A		Somatic	0	20	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	Q14CQ1|Q9NU60	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G168	ENST00000372771.4	37	c.504	CCDS448.1	1																																																																																			-	NULL		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	protein_coding	OTTHUMT00000015767.1	G	NM_012421	-		40661333	1	no_errors	ENST00000372771	ensembl	human	known	74_37	silent	SNP	0.945	A	A	40661333	G	A	40661333	2	1	148	1	0	0	0	0	0	0	0	1	13397	1161	41	2		2	RLF	1	40661333	Silent	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09	13572547	40661333	208589288	3	10895											
WDR3	10885	genome.wustl.edu	37	chr1	118496638	118496638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcctctgtaggctgagagGattatggaggctattgagtt	13	6	1	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:118496638G>A	ENST00000349139.5	+	22	2324	c.2277G>A	c.(2275-2277)agG>agA	p.R759R	SPAG17_ENST00000336338.5_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	759						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGCTGAGAGGATTATGGAGG	0.418																																																	0								ENSG00000065183						146	142	143					1																	118496638		2203	4300	6503	WDR3	SO:0001819	synonymous_variant	0			-	HGNC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2277G>A	1.37:g.118496638G>A		Somatic	0	15	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06		Silent	SNP							pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R759	ENST00000349139.5	37	c.2277	CCDS898.1	1																																																																																			-	NULL		0.418	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	protein_coding	OTTHUMT00000033720.2	G	NM_006784	-		118496638	1	no_errors	ENST00000349139	ensembl	human	known	74_37	silent	SNP	1.000	A	A	118496638	G	A	118496638	2	1	148	1	0	0	0	0	0	0	0	1	17292	1165	41	2		2	WDR3	1	118496638	Silent	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09	77835305	118496638	130753983	4	10896											
CDC73	79577	genome.wustl.edu	37	chr1	193181539	193181539	+	Silent	SNP	C	C	A													ggatctcgaacacccattatCataattcctgcagctaccac							TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:193181539C>A	ENST00000367435.3	+	13	1270	c.1086C>A	c.(1084-1086)atC>atA	p.I362I		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	362	Interaction with POLR2A and PAF1.|Poly-Ile.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CACCCATTATCATAATTCCTG	0.299																																																	0								ENSG00000134371						135	150	145					1																	193181539		2203	4299	6502	CDC73	SO:0001819	synonymous_variant	0			-	HGNC	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1086C>A	1.37:g.193181539C>A		Somatic	0	95	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	64	29.67	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP							pfam_RNA_pol_access_fac_Cdc73	p.I362	ENST00000367435.3	37	c.1086	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085492	0.20390	.	.	ENSG00000134371	ENST00000445394	.	.	.	6.07	3.21	0.36854	.	.	.	.	.	T	0.70439	0.3224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70521	-0.4849	5	0.66056	D	0.02	-7.2715	10.9736	0.47452	0.0:0.8059:0.0:0.1941	.	.	.	.	N	304	.	ENSP00000398808:H304N	H	+	1	0	CDC73	191448162	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.459000	0.21908	0.446000	0.26666	0.655000	0.94253	CAT	-	pfam_RNA_pol_access_fac_Cdc73		0.299	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	protein_coding	OTTHUMT00000086696.2	C	NM_024529	-		193181539	1	no_errors	ENST00000367435	ensembl	human	known	74_37	silent	SNP	1.000	A	A	193181539	C	A	193181539	2	1	148	1	0	0	0	0	0	0	0	1	3087	816	29	3		3	CDC73	1	193181539	Silent	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	74684901	193181539	56069082	5	10897	177	2	1	81		3	2	56	N	C	7.28409e-05
CDC73	79577	genome.wustl.edu	37	chr1	193181546	193181546	+	Missense_Mutation	SNP	C	C	T													gaacacccattatcataattCctgcagctaccacctcttta							TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:193181546C>T	ENST00000367435.3	+	13	1277	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	365	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATCATAATTCCTGCAGCTAC	0.303																																																	0								ENSG00000134371						139	154	149					1																	193181546		2203	4299	6502	CDC73	SO:0001583	missense	0			-	HGNC	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1093C>T	1.37:g.193181546C>T	ENSP00000356405:p.Pro365Ser	Somatic	0	93	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	64	29.67	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP							pfam_RNA_pol_access_fac_Cdc73	p.P365S	ENST00000367435.3	37	c.1093	CCDS1382.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143327|5.143327	0.94560|0.94560	.|.	.|.	ENSG00000134371|ENSG00000134371	ENST00000367435|ENST00000445394	T|.	0.69926|.	-0.44|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77579|0.77579	0.4151|0.4151	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71656|.	0.974|.	T|T	0.77284|0.77284	-0.2645|-0.2645	10|6	0.31617|0.72032	T|D	0.26|0.01	-14.049|-14.049	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	365|.	Q6P1J9|.	CDC73_HUMAN|.	S|F	365|306	ENSP00000356405:P365S|.	ENSP00000356405:P365S|ENSP00000398808:S306F	P|S	+|+	1|2	0|0	CDC73|CDC73	191448169|191448169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.911000|6.911000	0.75746|0.75746	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	pfam_RNA_pol_access_fac_Cdc73		0.303	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	protein_coding	OTTHUMT00000086696.2	C	NM_024529	-		193181546	1	no_errors	ENST00000367435	ensembl	human	known	74_37	missense	SNP	1.000	T	T	193181546	C	T	193181546	3	4	148	1	0	0	0	0	1	0	0	0	3087	855	30	2	1143	2	CDC73	1	193181546	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	7	193181546	56069075	6	10898	177	2	1	81		3	2	56	N	C	7.28409e-05
CDC73	79577	genome.wustl.edu	37	chr1	193181594	193181594	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttaatgcaaaagaccttCtacaggacctgaagtaagta	8	8	1	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr1:193181594C>T	ENST00000367435.3	+	13	1325	c.1141C>T	c.(1141-1143)Cta>Tta	p.L381L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	381	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAAAGACCTTCTACAGGACCT	0.338																																																	0								ENSG00000134371						121	135	131					1																	193181594		2203	4299	6502	CDC73	SO:0001819	synonymous_variant	0			-	HGNC	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1141C>T	1.37:g.193181594C>T		Somatic	0	74	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP							pfam_RNA_pol_access_fac_Cdc73	p.L381	ENST00000367435.3	37	c.1141	CCDS1382.1	1																																																																																			-	pfam_RNA_pol_access_fac_Cdc73		0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	protein_coding	OTTHUMT00000086696.2	C	NM_024529	-		193181594	1	no_errors	ENST00000367435	ensembl	human	known	74_37	silent	SNP	1.000	T	T	193181594	C	T	193181594	2	4	148	1	0	0	0	0	0	0	0	1	3087	912	32	2		2	CDC73	1	193181594	Silent	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	48	193181594	56069027	7	10899			1	81		3	2	56	N	C	7.28409e-05
FAP	2191	genome.wustl.edu	37	chr2	163070519	163070519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaaacattctggactcTttttagccactgcaaacata	6	11	2	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr2:163070519T>C	ENST00000188790.4	-	11	1138	c.931A>G	c.(931-933)Aga>Gga	p.R311G	FAP_ENST00000443424.1_Missense_Mutation_p.R286G	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTCTGGACTCTTTTTAGCCAC	0.403																																																	0								ENSG00000078098						132	129	130					2																	163070519		2203	4300	6503	FAP	SO:0001583	missense	0			-	HGNC	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.931A>G	2.37:g.163070519T>C	ENSP00000188790:p.Arg311Gly	Somatic	0	26	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42		Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R311G	ENST00000188790.4	37	c.931	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.201603	0.79015	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;D	0.84146	-1.81;-1.81	5.53	4.32	0.51571	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94066	0.8098	M	0.94142	3.5	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	0.95464	0.8545	10	0.87932	D	0	-16.178	13.857	0.63534	0.0:0.0:0.1356:0.8644	.	286;311;311	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	G	311;286	ENSP00000188790:R311G;ENSP00000411391:R286G	ENSP00000188790:R311G	R	-	1	2	FAP	162778765	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.026000	0.49689	2.107000	0.64212	0.533000	0.62120	AGA	-	pfam_Peptidase_S9B		0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	protein_coding	OTTHUMT00000332852.2	T		-		163070519	-1	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	SNP	1.000	C	C	163070519	T	C	163070519	3	2	148	1	0	0	0	0	1	0	0	0	5675	1617	56	5	1415	5	FAP	2	163070519	Missense_Mutation	SNP	T	TCGA-HS-A5N7-01A-21D-A26G-09		163070519	80128854	8	10900											
CWC22	57703	genome.wustl.edu	37	chr2	180810224	180810224	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagaaggaacatctttgtCtgatgtgtactttgttatag	9	5	3	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr2:180810224C>T	ENST00000410053.3	-	20	2658	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	CWC22_ENST00000295749.6_Missense_Mutation_p.D787N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	787					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACATCTTTGTCTGATGTGTAC	0.378																																																	0								ENSG00000163510						226	212	216					2																	180810224		1861	4109	5970	CWC22	SO:0001583	missense	0			-	HGNC		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2359G>A	2.37:g.180810224C>T	ENSP00000387006:p.Asp787Asn	Somatic	0	88	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	57	37.36	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.D787N	ENST00000410053.3	37	c.2359	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208230	0.39003	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.21361	2.01;2.01	4.59	4.59	0.56863	.	0.430894	0.22313	N	0.061715	T	0.37598	0.1009	L	0.50333	1.59	0.41738	D	0.98959	D	0.69078	0.997	D	0.73380	0.98	T	0.06570	-1.0819	10	0.48119	T	0.1	-16.3733	11.5128	0.50502	0.0:0.803:0.1969:0.0	.	787	Q9HCG8	CWC22_HUMAN	N	787	ENSP00000387006:D787N;ENSP00000295749:D787N	ENSP00000295749:D787N	D	-	1	0	CWC22	180518469	0.997000	0.39634	0.753000	0.31225	0.016000	0.09150	3.602000	0.54066	2.262000	0.75019	0.655000	0.94253	GAC	-	NULL		0.378	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	protein_coding	OTTHUMT00000334537.1	C	NM_020943	-		180810224	-1	no_errors	ENST00000295749	ensembl	human	known	74_37	missense	SNP	0.941	T	T	180810224	C	T	180810224	3	4	148	1	0	0	0	0	1	0	0	0	4070	913	32	2	371	2	CWC22	2	180810224	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	17739705	180810224	62389149	9	10901											
ERBB4	2066	genome.wustl.edu	37	chr2	212248560	212248560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagtcagggttgtcaaacGctttcttggccttctctggc	11	10	4	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr2:212248560G>A	ENST00000342788.4	-	28	4017	c.3707C>T	c.(3706-3708)gCg>gTg	p.A1236V	ERBB4_ENST00000436443.1_Missense_Mutation_p.A1220V|ERBB4_ENST00000402597.1_Missense_Mutation_p.A1226V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1236					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A1236E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTTGTCAAACGCTTTCTTGGC	0.483										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000178568						244	224	231					2																	212248560		2203	4300	6503	ERBB4	SO:0001583	missense	0			-	HGNC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3707C>T	2.37:g.212248560G>A	ENSP00000342235:p.Ala1236Val	Somatic	0	70	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	77	27.36	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A1236V	ENST00000342788.4	37	c.3707	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088790	0.55968	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75938	-0.97;-0.97;-0.98	5.11	5.11	0.69529	.	0.062435	0.64402	D	0.000006	T	0.74268	0.3694	N	0.12961	0.28	0.44880	D	0.997891	P;D;P;B	0.61697	0.78;0.99;0.78;0.273	B;P;B;B	0.59115	0.09;0.852;0.09;0.041	T	0.77760	-0.2467	10	0.54805	T	0.06	.	19.09	0.93223	0.0:0.0:1.0:0.0	.	1210;1226;1220;1236	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	1236;1220;1226	ENSP00000342235:A1236V;ENSP00000403204:A1220V;ENSP00000385565:A1226V	ENSP00000342235:A1236V	A	-	2	0	ERBB4	211956805	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.961000	0.70356	2.812000	0.96745	0.557000	0.71058	GCG	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	protein_coding	OTTHUMT00000256597.1	G	NM_001042599	-		212248560	-1	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	SNP	0.996	A	A	212248560	G	A	212248560	3	1	148	1	0	0	0	0	1	0	0	0	5211	1087	38	1	223	1	ERBB4	2	212248560	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09	31438336	212248560	30950813	10	10902											
UGT1A3	54659	genome.wustl.edu	37	chr2	234638180	234638180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctactacataatgaggcCctgatcaggcacctgaatgc	10	11	1	3			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr2:234638180C>A	ENST00000482026.1	+	1	427	c.408C>A	c.(406-408)gcC>gcA	p.A136A	UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.A136A			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	136					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	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)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	ATAATGAGGCCCTGATCAGGC	0.438																																																	0								ENSG00000243135						191	197	195					2																	234638180		2203	4300	6503	UGT1A3	SO:0001819	synonymous_variant	0			-	HGNC	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.408C>A	2.37:g.234638180C>A		Somatic	0	80	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	54	34.15	B8K287	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A136	ENST00000482026.1	37	c.408	CCDS2509.1	2																																																																																			-	pfam_UDP_glucos_trans		0.438	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	C	NM_019093	-		234638180	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	SNP	0.000	A	A	234638180	C	A	234638180	2	1	148	1	0	0	0	0	0	0	0	1	16953	610	22	3		3	UGT1A3	2	234638180	Silent	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	22389620	234638180	8561193	11	10903											
ANO7	50636	genome.wustl.edu	37	chr2	242128165	242128165	+	Frame_Shift_Del	DEL	G	G	-													tgacctccgagacctcttccGgaagccactgtgccaggtgg					rs376011925		TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr2:242128165delG	ENST00000274979.8	+	1	242	c.139delG	c.(139-141)ggafs	p.G47fs	ANO7_ENST00000402530.3_Frame_Shift_Del_p.G47fs|ANO7_ENST00000402430.3_Frame_Shift_Del_p.G47fs	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	47					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GACCTCTTCCGGAAGCCACTG	0.677																																																	0								ENSG00000146205						41	44	43					2																	242128165		2203	4300	6503	ANO7	SO:0001589	frameshift_variant	0				HGNC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.139delG	2.37:g.242128165delG	ENSP00000274979:p.Gly47fs	Somatic	0	22	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	Q6IWH6	Frame_Shift_Del	DEL							pfam_Anoctamin	p.G47fs	ENST00000274979.8	37	c.139	CCDS33423.1	2																																																																																			-	NULL		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	G	NM_001001891			242128165	1	no_errors	ENST00000274979	ensembl	human	known	74_37	frame_shift_del	DEL	0.078	-	-	242128165	G	-	242128165	7	5	148	1	0	1	0	1	0	0	0	0	702	1117	39	0	141	0	ANO7	2	242128165	Frame_Shift_Del	DEL	G	TCGA-HS-A5N7-01A-21D-A26G-09	7489985	242128165	1071208	12	10904											
CHST13	166012	genome.wustl.edu	37	chr3	126255190	126255190	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaagctctatgacctGgatcaggtaggtggacagac	13	9	2	3			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr3:126255190G>T	ENST00000319340.2	+	2	224	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	58					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TCTATGACCTGGATCAGGTAG	0.597																																																	0								ENSG00000180767						108	106	107					3																	126255190		2203	4300	6503	CHST13	SO:0001819	synonymous_variant	0			-	HGNC	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.174G>T	3.37:g.126255190G>T		Somatic	0	36	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q3SYA3|Q3SYA5	Silent	SNP							pfam_Sulfotransferase	p.L58	ENST00000319340.2	37	c.174	CCDS3039.1	3																																																																																			-	NULL		0.597	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	protein_coding	OTTHUMT00000370201.2	G	NM_152889	-		126255190	1	no_errors	ENST00000319340	ensembl	human	known	74_37	silent	SNP	0.930	T	T	126255190	G	T	126255190	2	4	148	1	0	0	0	0	0	0	0	1	3403	1335	47	3		3	CHST13	3	126255190	Silent	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		126255190	71767240	13	10905											
LAMP3	27074	genome.wustl.edu	37	chr3	182871758	182871758	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttactgggttgagtggtgttCccagttgtgtggctgacggt	16	6	0	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr3:182871758C>A	ENST00000265598.3	-	2	726	c.471G>T	c.(469-471)ggG>ggT	p.G157G	LAMP3_ENST00000466939.1_Silent_p.G133G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	157	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GAGTGGTGTTCCCAGTTGTGT	0.537																																																	0								ENSG00000078081						376	381	379					3																	182871758		2203	4300	6503	LAMP3	SO:0001819	synonymous_variant	0			-	HGNC	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.471G>T	3.37:g.182871758C>A		Somatic	0	129	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	92	39.07	D3DNS4|O94781|Q8NEC8	Silent	SNP							pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.G157	ENST00000265598.3	37	c.471	CCDS3242.1	3																																																																																			-	pfam_Lysosome-assoc_membr_glycop		0.537	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	protein_coding	OTTHUMT00000350863.1	C		-		182871758	-1	no_errors	ENST00000265598	ensembl	human	known	74_37	silent	SNP	0.002	A	A	182871758	C	A	182871758	2	1	148	1	0	0	0	0	0	0	0	1	8621	842	30	3		3	LAMP3	3	182871758	Silent	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	56616568	182871758	15150672	14	10906											
UNC5C	8633	genome.wustl.edu	37	chr4	96140390	96140390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgggattttgtctgagaCgtcatgcagggcatagacag	13	7	2	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr4:96140390C>T	ENST00000453304.1	-	9	1723	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	UNC5C_ENST00000506749.1_Missense_Mutation_p.V478I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	459					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGTCTGAGACGTCATGCAGG	0.507																																																	0								ENSG00000182168						325	314	318					4																	96140390		2203	4300	6503	UNC5C	SO:0001583	missense	0			-	HGNC	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1375G>A	4.37:g.96140390C>T	ENSP00000406022:p.Val459Ile	Somatic	0	13	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	Q8IUT0	Missense_Mutation	SNP							pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V459I	ENST00000453304.1	37	c.1375	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622983	0.46840	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.56941	0.73;0.43;0.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31599	0.109;0.33;0.147	B;B;B	0.17098	0.017;0.014;0.014	T	0.40794	-0.9544	10	0.56958	D	0.05	.	18.7712	0.91893	0.0:1.0:0.0:0.0	.	459;478;459	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	I	459;418;478;478	ENSP00000406022:V459I;ENSP00000426924:V478I;ENSP00000426153:V478I	ENSP00000328673:V418I	V	-	1	0	UNC5C	96359413	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	4.743000	0.62110	2.438000	0.82558	0.655000	0.94253	GTC	-	NULL		0.507	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	protein_coding	OTTHUMT00000253607.1	C	NM_003728	-		96140390	-1	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96140390	C	T	96140390	3	4	148	1	0	0	0	0	1	0	0	0	17000	536	19	1	1452	1	UNC5C	4	96140390	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09		96140390	95013886	15	10907											
GRIA1	2890	genome.wustl.edu	37	chr5	153190650	153190650	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatcgaccctcccccgcaaCagcggggcaggagccagcag	12	17	0	0	rs376123993		TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr5:153190650C>G	ENST00000285900.5	+	16	2929	c.2586C>G	c.(2584-2586)aaC>aaG	p.N862K	GRIA1_ENST00000521843.2_Missense_Mutation_p.N793K|GRIA1_ENST00000340592.5_Missense_Mutation_p.N862K|GRIA1_ENST00000448073.4_Missense_Mutation_p.N872K|GRIA1_ENST00000518783.1_Missense_Mutation_p.N872K|GRIA1_ENST00000518142.1_Missense_Mutation_p.N782K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	862					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCCCCCGCAACAGCGGGGCAG	0.592																																																	0								ENSG00000155511						43	48	47					5																	153190650		2203	4300	6503	GRIA1	SO:0001583	missense	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2586C>G	5.37:g.153190650C>G	ENSP00000285900:p.Asn862Lys	Somatic	0	54	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	58	30.12	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N872K	ENST00000285900.5	37	c.2616	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082946	0.20309	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.11821	2.79;2.74;2.79;2.74;2.74;2.79;2.79	5.16	4.3	0.51218	.	0.303410	0.34932	N	0.003580	T	0.06096	0.0158	N	0.08118	0	0.27157	N	0.961265	B;B;B;B;B	0.18166	0.01;0.01;0.026;0.005;0.004	B;B;B;B;B	0.15870	0.006;0.006;0.014;0.008;0.003	T	0.26467	-1.0102	10	0.31617	T	0.26	.	5.2411	0.15471	0.1749:0.6544:0.0:0.1707	.	872;872;782;862;862	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	K	862;862;782;862;795;793;872;872	ENSP00000285900:N862K;ENSP00000427920:N782K;ENSP00000339343:N862K;ENSP00000427864:N795K;ENSP00000442108:N793K;ENSP00000428994:N872K;ENSP00000415569:N872K	ENSP00000285900:N862K	N	+	3	2	GRIA1	153170843	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	2.590000	0.46154	1.173000	0.42796	-0.137000	0.14449	AAC	-	NULL		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	C		-		153190650	1	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	SNP	0.995	G	G	153190650	C	G	153190650	3	3	148	1	0	0	0	0	1	0	0	0	6769	477	17	4	2767	4	GRIA1	5	153190650	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09		153190650	27724610	16	10908											
RIOK1	83732	genome.wustl.edu	37	chr6	7403055	7403055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttattcaagatttcGtcatggctattgtaaaggaa	7	5	3	1			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr6:7403055G>A	ENST00000379834.2	+	8	1199	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	231	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TCAAGATTTCGTCATGGCTAT	0.318																																																	0								ENSG00000124784						70	72	71					6																	7403055		2203	4300	6503	RIOK1	SO:0001583	missense	0			-	HGNC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.692G>A	6.37:g.7403055G>A	ENSP00000369162:p.Arg231His	Somatic	0	65	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP							pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.R231H	ENST00000379834.2	37	c.692	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.537226	0.96460	.	.	ENSG00000124784	ENST00000379834	T	0.07327	3.2	6.17	6.17	0.99709	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.01198	-1.1421	10	0.56958	D	0.05	-14.4981	19.8676	0.96824	0.0:0.0:1.0:0.0	.	231	Q9BRS2	RIOK1_HUMAN	H	231	ENSP00000369162:R231H	ENSP00000369162:R231H	R	+	2	0	RIOK1	7348054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.332000	0.96446	2.941000	0.99782	0.655000	0.94253	CGT	-	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1		0.318	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	protein_coding	OTTHUMT00000039780.2	G	NM_031480	-		7403055	1	no_errors	ENST00000379834	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7403055	G	A	7403055	3	1	148	1	0	0	0	0	1	0	0	0	13385	1145	40	1	722	1	RIOK1	6	7403055	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		7403055	163712012	17	10909											
DST	667	genome.wustl.edu	37	chr6	56504764	56504764	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagactagattcaaatTcttcaatagctctatgaaca	5	8	4	3			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr6:56504764T>A	ENST00000361203.3	-	15	1956	c.1949A>T	c.(1948-1950)gAa>gTa	p.E650V	DST_ENST00000370788.2_Missense_Mutation_p.E650V|DST_ENST00000370765.6_Missense_Mutation_p.E324V|DST_ENST00000370754.5_Missense_Mutation_p.E828V|DST_ENST00000244364.6_Missense_Mutation_p.E324V|DST_ENST00000370769.4_Missense_Mutation_p.E650V|DST_ENST00000446842.2_Missense_Mutation_p.E324V|DST_ENST00000312431.6_Missense_Mutation_p.E650V|DST_ENST00000518935.1_Missense_Mutation_p.E324V|DST_ENST00000421834.2_Missense_Mutation_p.E650V			Q03001	DYST_HUMAN	dystonin	650					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)			AGATTCAAATTCTTCAATAGC	0.328																																																	0								ENSG00000151914						55	60	58					6																	56504764		2202	4299	6501	DST	SO:0001583	missense	0			-	HGNC	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.1949A>T	6.37:g.56504764T>A	ENSP00000354508:p.Glu650Val	Somatic	0	21	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	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							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E828V	ENST00000361203.3	37	c.2483		6	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386649	0.82902	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000101	D	0.95809	0.8636	M	0.76170	2.325	0.34762	D	0.732858	D;D;D;D;D;D;D;D;D;D	0.76494	0.995;0.993;0.995;0.993;0.999;0.992;0.997;0.998;0.993;0.98	D;P;D;P;D;D;D;D;P;D	0.91635	0.983;0.849;0.983;0.849;0.969;0.915;0.992;0.999;0.849;0.934	D	0.95781	0.8817	9	0.52906	T	0.07	.	15.6785	0.77349	0.0:0.0:0.0:1.0	.	679;650;650;828;766;324;324;324;650;324	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	324;828;650;650;324;650;650;650;324;690;324;324	ENSP00000244364:E324V;ENSP00000359790:E828V;ENSP00000359805:E650V;ENSP00000400883:E650V;ENSP00000393645:E324V;ENSP00000307959:E650V;ENSP00000359824:E650V;ENSP00000354508:E650V;ENSP00000404924:E324V;ENSP00000431030:E690V;ENSP00000359801:E324V;ENSP00000431003:E324V	ENSP00000244364:E324V	E	-	2	0	DST	56612723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.288000	0.76882	0.533000	0.62120	GAA	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	T	NM_001723	-		56504764	-1	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56504764	T	A	56504764	3	1	148	1	0	0	0	0	1	0	0	0	4785	1783	62	5	19504	5	DST	6	56504764	Missense_Mutation	SNP	T	TCGA-HS-A5N7-01A-21D-A26G-09	49101709	56504764	114610303	18	10910											
TWIST1	7291	genome.wustl.edu	37	chr7	19156406	19156406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtagctgagccgctcgTgagccacatagctgcagctt	13	12	0	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr7:19156406T>C	ENST00000242261.5	-	1	889	c.539A>G	c.(538-540)cAc>cGc	p.H180R	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	180	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						GAGCCGCTCGTGAGCCACATA	0.652																																																	0								ENSG00000122691						63	54	57					7																	19156406		2203	4300	6503	TWIST1	SO:0001583	missense	0			-	HGNC	U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"Basic helix-loop-helix proteins"	12428	protein-coding gene	gene with protein product	"Saethre-Chotzen syndrome"	601622	"blepharophimosis, epicanthus inversus and ptosis 3", "acrocephalosyndactyly 3", "twist homolog 1 (Drosophila)", "twist basic helix-loop-helix transcription factor 1", "craniosynostosis"	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.539A>G	7.37:g.19156406T>C	ENSP00000242261:p.His180Arg	Somatic	0	32	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	10	71.79	A4D128|Q92487|Q99804	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.H180R	ENST00000242261.5	37	c.539	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	t	11.65	1.700663	0.30142	.	.	ENSG00000122691	ENST00000242261	D	0.98329	-4.87	4.73	3.54	0.40534	Helix-loop-helix DNA-binding (1);	0.000000	0.50627	D	0.000102	D	0.97288	0.9113	M	0.81802	2.56	0.58432	D	0.999994	B	0.23891	0.093	B	0.30716	0.119	D	0.95093	0.8223	10	0.44086	T	0.13	-15.0211	10.3066	0.43685	0.1481:0.0:0.0:0.8519	.	180	Q15672	TWST1_HUMAN	R	180	ENSP00000242261:H180R	ENSP00000242261:H180R	H	-	2	0	TWIST1	19122931	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.905000	0.87416	0.638000	0.30545	0.369000	0.22263	CAC	-	superfamily_bHLH_dom		0.652	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	protein_coding	OTTHUMT00000207625.1	T	NM_000474	-		19156406	-1	no_errors	ENST00000242261	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19156406	T	C	19156406	3	2	148	1	0	0	0	0	1	0	0	0	16790	1696	59	5	73	5	TWIST1	7	19156406	Missense_Mutation	SNP	T	TCGA-HS-A5N7-01A-21D-A26G-09		19156406	139982257	19	10911											
C7orf51	222950	genome.wustl.edu	37	chr7	100084455	100084455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagctccagtaaggAggtggcccccgctggctcgg	13	16	1	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr7:100084455A>C	ENST00000300179.2	+	3	239	c.80A>C	c.(79-81)gAg>gCg	p.E27A	NYAP1_ENST00000454988.1_5'Flank|AC092849.1_ENST00000583832.1_RNA|NYAP1_ENST00000423930.1_Missense_Mutation_p.E27A	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	27					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCCAGTAAGGAGGTGGCCCCC	0.706																																																	0								ENSG00000166924						3	3	3					7																	100084455		1496	3302	4798	NYAP1	SO:0001583	missense	0			-	HGNC	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.80A>C	7.37:g.100084455A>C	ENSP00000300179:p.Glu27Ala	Somatic	0	40	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP							NULL	p.E27A	ENST00000300179.2	37	c.80	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019945	0.75275	.	.	ENSG00000166924	ENST00000300179;ENST00000423930	T;T	0.42131	0.98;0.98	4.84	4.84	0.62591	.	0.000000	0.51477	D	0.000089	T	0.31358	0.0794	N	0.19112	0.55	0.44789	D	0.997799	P	0.45474	0.859	P	0.47573	0.55	T	0.04333	-1.0959	10	0.11794	T	0.64	-24.2481	10.7322	0.46104	1.0:0.0:0.0:0.0	.	27	Q6ZVC0	CG051_HUMAN	A	27	ENSP00000300179:E27A;ENSP00000411861:E27A	ENSP00000300179:E27A	E	+	2	0	C7orf51	99922391	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.763000	0.55257	2.025000	0.59659	0.379000	0.24179	GAG	-	NULL		0.706	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	protein_coding	OTTHUMT00000339335.2	A	NM_173564	-		100084455	1	no_errors	ENST00000423930	ensembl	human	known	74_37	missense	SNP	1.000	C	C	100084455	A	C	100084455	3	2	148	1	0	0	0	0	1	0	0	0	2402	304	11	5	86	5	C7orf51	7	100084455	Missense_Mutation	SNP	A	TCGA-HS-A5N7-01A-21D-A26G-09	80928049	100084455	59054208	20	10912											
RINT1	60561	genome.wustl.edu	37	chr7	105195661	105195661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacagtactagcagattGggctgacaatgttgtgagtt	11	7	1	3			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr7:105195661G>T	ENST00000257700.2	+	11	1889	c.1658G>T	c.(1657-1659)tGg>tTg	p.W553L		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	553	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTAGCAGATTGGGCTGACAAT	0.323																																																	0								ENSG00000135249						146	144	145					7																	105195661		2203	4300	6503	RINT1	SO:0001583	missense	0			-	HGNC	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1658G>T	7.37:g.105195661G>T	ENSP00000257700:p.Trp553Leu	Somatic	0	25	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP							pfam_RINT1_TIP1	p.W553L	ENST00000257700.2	37	c.1658	CCDS34726.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031533	0.93575	.	.	ENSG00000135249	ENST00000257700	T	0.37584	1.19	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62039	-0.6938	10	0.39692	T	0.17	-8.9782	20.2245	0.98337	0.0:0.0:1.0:0.0	.	553	Q6NUQ1	RINT1_HUMAN	L	553	ENSP00000257700:W553L	ENSP00000257700:W553L	W	+	2	0	RINT1	104982897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.110000	0.94302	2.770000	0.95276	0.650000	0.86243	TGG	-	pfam_RINT1_TIP1		0.323	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	protein_coding	OTTHUMT00000348686.1	G	NM_021930	-		105195661	1	no_errors	ENST00000257700	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105195661	G	T	105195661	3	4	148	1	0	0	0	0	1	0	0	0	13384	1357	47	3	1700	3	RINT1	7	105195661	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09	5111206	105195661	53943002	21	10913											
SSPO	23145	genome.wustl.edu	37	chr7	149500107	149500107	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggtggccatcagagtcGccagagaagctgtgtggacc	17	10	1	2	rs535183718	byFrequency	TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr7:149500107G>A	ENST00000378016.2	+	0	7733							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATCAGAGTCGCCAGAGAAGC	0.687													G|||	4	0.000798722	0	0.0014	5008	,	,		15290	0.002		0.001	False		,,,				2504	0																0								ENSG00000197558						10	13	12					7																	149500107		2162	4261	6423	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500107G>A		Somatic	0	19	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.687	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		G		-		149500107	1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	SNP	1.000	A	A	149500107	G	A	149500107	1	1	148	0	1	0	0	0	0	0	0	0	15196	1087	38	1		1	SSPO	7	149500107	RNA	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09	44304446	149500107	9638556	22	10914											
TLN1	7094	genome.wustl.edu	37	chr9	35711350	35711351	+	Frame_Shift_Ins	INS	-	-	C													tgcttgaagacatggagatgINScccttcaagttggacacaac					rs201783008	byFrequency	TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr9:35711350_35711351insC	ENST00000314888.9	-	30	4273_4274	c.3920_3921insG	c.(3919-3921)ggcfs	p.G1307fs	TLN1_ENST00000540444.1_Frame_Shift_Ins_p.G1307fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1307					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACATGGAGATGCCCTTCAAGTT	0.54																																																	0								ENSG00000137076																																			TLN1	SO:0001589	frameshift_variant	0				HGNC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3921dupG	9.37:g.35711353_35711353dupC	ENSP00000316029:p.Gly1307fs	Somatic	0	35	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Frame_Shift_Ins	INS							pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.I1308fs	ENST00000314888.9	37	c.3921_3920	CCDS35009.1	9																																																																																			-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin		0.54	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	protein_coding	OTTHUMT00000052353.2	-	NM_006289			35711351	-1	no_errors	ENST00000314888	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:1.000	C	C	35711351	-	C	35711350	7	5	148	1	0	1	1	0	0	0	0	0	15954	1306	46	0	3816	0	TLN1	9	35711350	Frame_Shift_Ins	INS	-	TCGA-HS-A5N7-01A-21D-A26G-09		35711350	105502081	23	10915											
SPAG8	4882	genome.wustl.edu	37	chr9	35811486	35811497	+	IGR	DEL	CCAGGACCAGAG	CCAGGACCAGAG	-													gatgagagccagagccatgaCcaggaccagagccaggacca					rs59748329|rs555852229|rs141090907	byFrequency	TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	CCAGGACCAGAG	CCAGGACCAGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr9:35811486_35811497delCCAGGACCAGAG	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_In_Frame_Del_p.182_186GSGPG>G|TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000484764.1_In_Frame_Del_p.180_184GSGPG>G|SPAG8_ENST00000479751.1_5'Flank|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_In_Frame_Del_p.182_186GSGPG>G	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S183C(2)|p.S183_G186delSGPG(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	agagccatgaccaggaccagagccaggaccag	0.637														1567	0.312899	0.4985	0.2334	5008	,	,		13915	0.379		0.2008	False		,,,				2504	0.1656																3	Substitution - Missense(2)|Deletion - In frame(1)	prostate(2)|upper_aerodigestive_tract(1)						ENSG00000137098		,	1872,2386		432,1008,689					,	-8.9	0		dbSNP_132	42	1635,6615		166,1303,2656	no	coding,coding	SPAG8	NM_172312.1,NM_001039592.1	,	598,2311,3345	A1A1,A1R,RR		19.8182,43.9643,28.0381	,	,		3507,9001				SPAG8	SO:0001628	intergenic_variant	0				HGNC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811486_35811497delCCAGGACCAGAG		Somatic					0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Del	DEL							prints_Antifreeze_1	p.SGPG183in_frame_del	ENST00000342694.2	37	c.557_546	CCDS6590.1	9																																																																																			-	NULL		0.637	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	protein_coding	OTTHUMT00000052345.1	CCAGGACCAGAG				35811497	-1	no_errors	ENST00000340291	ensembl	human	known	74_37	in_frame_del	DEL	0.595:0.593:0.546:0.350:0.036:0.005:0.002:0.001:0.001:0.001:0.001:0.001	-	-	35811497	CCAGGACCAGAG	-	35811486	6	5	148	0	1	1	0	1	0	0	0	0	14992	507	18	0		0	SPAG8	9	35811486	IGR	DEL	CCAGGACCAGAG	TCGA-HS-A5N7-01A-21D-A26G-09	100136	35811486	105401945	24	10916											
SEMA4D	10507	genome.wustl.edu	37	chr9	91978732	91978732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagagcagcgatactcagcGctttccctgatggcgtcctg	11	13	1	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr9:91978732G>C	ENST00000420987.1	-	18	2462	c.2016C>G	c.(2014-2016)agC>agG	p.S672R	SEMA4D_ENST00000455551.2_Missense_Mutation_p.S672R|SEMA4D_ENST00000420101.2_Missense_Mutation_p.S57R|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S672R|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S672R|SEMA4D_ENST00000469653.1_5'UTR	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.S57S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GATACTCAGCGCTTTCCCTGA	0.592																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000187764						107	85	92					9																	91978732		2203	4300	6503	SEMA4D	SO:0001583	missense	0			-	HGNC	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000420987.1:c.2016C>G	9.37:g.91978732G>C	ENSP00000391733:p.Ser672Arg	Somatic	0	43	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S672R	ENST00000420987.1	37	c.2016	CCDS47991.1	9	.	.	.	.	.	.	.	.	.	.	G	8.894	0.954648	0.18431	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000420101;ENST00000455551;ENST00000343780	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.05	1.13	0.20643	.	0.165528	0.43260	D	0.000581	T	0.16685	0.0401	.	.	.	0.09310	N	1	P	0.45428	0.858	B	0.44163	0.443	T	0.08493	-1.0719	9	0.72032	D	0.01	.	9.0985	0.36653	0.4385:0.0:0.5615:0.0	.	672	Q92854-2	.	R	672;672;57;672;672	ENSP00000344923:S672R;ENSP00000391733:S672R;ENSP00000411981:S672R;ENSP00000343418:S672R	ENSP00000344923:S672R	S	-	3	2	SEMA4D	91168552	0.000000	0.05858	0.007000	0.13788	0.108000	0.19459	-0.389000	0.07342	0.331000	0.23511	0.462000	0.41574	AGC	-	pfscan_Ig-like_dom		0.592	SEMA4D-203	KNOWN	basic|CCDS	protein_coding	SEMA4D	protein_coding	OTTHUMT00000402418.2	G	NM_006378	-		91978732	-1	no_errors	ENST00000343780	ensembl	human	known	74_37	missense	SNP	0.001	C	C	91978732	G	C	91978732	3	2	148	1	0	0	0	0	1	0	0	0	14042	1078	38	4	212	4	SEMA4D	9	91978732	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09	56167246	91978732	49234699	25	10917											
TCIRG1	10312	genome.wustl.edu	37	chr11	67808747	67808748	+	Frame_Shift_Del	DEL	CA	CA	-													acccacaggaccatgggctcCatgttccggagcgaggaggt							TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr11:67808747_67808748delCA	ENST00000265686.3	+	2	117_118	c.9_10delCA	c.(7-12)tccatgfs	p.M4fs	TCIRG1_ENST00000532635.1_5'Flank	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	4					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCATGGGCTCCATGTTCCGGAG	0.644																																																	0								ENSG00000110719																																			TCIRG1	SO:0001589	frameshift_variant	0				HGNC	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.9_10delCA	11.37:g.67808747_67808748delCA	ENSP00000265686:p.Met4fs	Somatic	0	34	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	O75877|Q8WVC5	Frame_Shift_Del	DEL							pfam_V-ATPase_116kDa_su	p.M4fs	ENST00000265686.3	37	c.9_10	CCDS8177.1	11																																																																																			-	NULL		0.644	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCIRG1	protein_coding	OTTHUMT00000394305.1	CA	NM_006019			67808748	1	no_errors	ENST00000265686	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	67808748	CA	-	67808747	7	5	148	1	0	1	0	1	0	0	0	0	15710	581	21	0	11	0	TCIRG1	11	67808747	Frame_Shift_Del	DEL	CA	TCGA-HS-A5N7-01A-21D-A26G-09		67808747	67197769	26	10918											
OR10G4	390264	genome.wustl.edu	37	chr11	123886552	123886552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccaagcggcagggctAtctccttccacagctgcgtg	11	15	1	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr11:123886552A>G	ENST00000320891.4	+	1	271	c.271A>G	c.(271-273)Atc>Gtc	p.I91V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CGGCAGGGCTATCTCCTTCCA	0.527																																																	0								ENSG00000254737						27	26	26					11																	123886552		2196	4273	6469	OR10G4	SO:0001583	missense	0			-	HGNC	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.271A>G	11.37:g.123886552A>G	ENSP00000325076:p.Ile91Val	Somatic	0	26	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	Q6IEW0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I91V	ENST00000320891.4	37	c.271	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	a	4.431	0.079706	0.08533	.	.	ENSG00000254737	ENST00000320891	T	0.00469	7.21	3.48	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.131916	0.34133	N	0.004236	T	0.00496	0.0016	M	0.75777	2.31	0.20074	N	0.999936	B	0.12630	0.006	B	0.17979	0.02	T	0.43814	-0.9368	10	0.66056	D	0.02	.	7.6669	0.28437	0.8129:0.0:0.1871:0.0	.	91	Q8NGN3	O10G4_HUMAN	V	91	ENSP00000325076:I91V	ENSP00000325076:I91V	I	+	1	0	OR10G4	123391762	0.936000	0.31750	0.263000	0.24496	0.184000	0.23303	1.728000	0.38105	0.093000	0.17368	0.473000	0.43528	ATC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.527	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	protein_coding	OTTHUMT00000387268.1	A	NM_001004462	-		123886552	1	no_errors	ENST00000320891	ensembl	human	known	74_37	missense	SNP	0.421	G	G	123886552	A	G	123886552	3	3	148	1	0	0	0	0	1	0	0	0	10903	449	16	5	273	5	OR10G4	11	123886552	Missense_Mutation	SNP	A	TCGA-HS-A5N7-01A-21D-A26G-09	56077805	123886552	11119964	27	10919											
SCNN1A	6337	genome.wustl.edu	37	chr12	6464555	6464555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagtcactgtggacagCaggggaatgaagtcattctg	13	10	3	1			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr12:6464555C>T	ENST00000228916.2	-	6	1124	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	SCNN1A_ENST00000540037.1_Silent_p.L42L|SCNN1A_ENST00000396966.2_Silent_p.L342L|SCNN1A_ENST00000358945.3_Silent_p.L342L|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000543768.1_Silent_p.L365L|SCNN1A_ENST00000360168.3_Silent_p.L401L	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	342					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CTGTGGACAGCAGGGGAATGA	0.572																																																	0								ENSG00000111319						51	44	46					12																	6464555		2203	4300	6503	SCNN1A	SO:0001819	synonymous_variant	0			-	HGNC	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1026G>A	12.37:g.6464555C>T		Somatic	0	14	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L342	ENST00000228916.2	37	c.1026	CCDS8543.1	12																																																																																			-	pfam_Na+channel_ASC,tigrfam_EnaC		0.572	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	protein_coding	OTTHUMT00000399055.1	C		-		6464555	-1	no_errors	ENST00000358945	ensembl	human	known	74_37	silent	SNP	0.998	T	T	6464555	C	T	6464555	2	4	148	1	0	0	0	0	0	0	0	1	13935	697	25	2		2	SCNN1A	12	6464555	Silent	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09		6464555	127387340	28	10920											
KLRC2	3823	genome.wustl.edu	37	chr12	10588530	10588530	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggtttcctttgctgcCgctttgggtcctgggccaga	12	11	0	1	rs75545535		TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr12:10588530C>G	ENST00000539033.1	-	1	70	c.56G>C	c.(55-57)cGg>cCg	p.R19P	KLRC2_ENST00000381902.2_Missense_Mutation_p.R19P|KLRC2_ENST00000381901.1_Missense_Mutation_p.R19P|KLRC2_ENST00000536833.2_Intron																							CCTTTGCTGCCGCTTTGGGTC	0.433																																																	0								ENSG00000255641						256	255	255					12																	10588530		2203	4300	6503	NKG2-E	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000539033.1:c.56G>C	12.37:g.10588530C>G	ENSP00000437563:p.Arg19Pro	Somatic	0	55	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50		Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R19P	ENST00000539033.1	37	c.56		12	557	0.25503663003663	67	0.13617886178861788	117	0.32320441988950277	145	0.2534965034965035	228	0.3007915567282322	C	11.56	1.674672	0.29693	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05996	3.36;3.36;3.36	2.57	-0.0579	0.13799	.	0.475912	0.19666	N	0.108869	T	0.00012	0.0000	L	0.61387	1.9	0.09310	N	1	P;P;D	0.76494	0.932;0.921;0.999	P;P;D	0.70935	0.796;0.88;0.971	T	0.48364	-0.9042	10	0.72032	D	0.01	.	4.9087	0.13811	0.0:0.5158:0.0:0.4842	.	5;19;19	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	P	19	ENSP00000437563:R19P;ENSP00000371327:R19P;ENSP00000371326:R19P	ENSP00000371326:R19P	R	-	2	0	KLRC2;RP11-277P12.6	10479797	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.155000	0.10115	-0.169000	0.10834	0.184000	0.17185	CGG	-	NULL		0.433	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000255641	protein_coding	OTTHUMT00000400274.1	C		rs75545535		10588530	-1	no_errors	ENST00000539033	ensembl	human	known	74_37	missense	SNP	0.000	G	G	10588530	C	G	10588530	3	3	148	1	0	0	0	0	1	0	0	0	8418	652	23	4	663	4	KLRC2	12	10588530	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	4123975	10588530	123263365	29	10921											
HSPA2	3306	genome.wustl.edu	37	chr14	65008936	65008936	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccatgaccaaggacaatAacctgctgggcaagttcgac	12	11	0	1			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr14:65008936A>T	ENST00000394709.1	+	2	1445	c.1369A>T	c.(1369-1371)Aac>Tac	p.N457Y	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.N457Y			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	457					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAAGGACAATAACCTGCTGGG	0.592																																					Pancreas(136;1211 1835 24894 31984 38227)												0								ENSG00000126803						72	68	70					14																	65008936		2203	4300	6503	HSPA2	SO:0001583	missense	0			-	HGNC	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1369A>T	14.37:g.65008936A>T	ENSP00000378199:p.Asn457Tyr	Somatic	0	21	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.N457Y	ENST00000394709.1	37	c.1369	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450669	0.63290	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01051	5.4;5.4	4.9	4.9	0.64082	.	0.000000	0.64402	U	0.000014	T	0.11707	0.0285	H	0.96720	3.87	0.48452	D	0.999651	D	0.76494	0.999	D	0.67725	0.953	T	0.03673	-1.1014	10	0.87932	D	0	-1.071	14.5952	0.68400	1.0:0.0:0.0:0.0	.	457	P54652	HSP72_HUMAN	Y	457;457;231	ENSP00000378199:N457Y;ENSP00000247207:N457Y	ENSP00000247207:N457Y	N	+	1	0	HSPA2	64078689	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.280000	0.95786	1.851000	0.53745	0.456000	0.33151	AAC	-	pfam_Hsp_70_fam		0.592	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	protein_coding	OTTHUMT00000280651.1	A		-		65008936	1	no_errors	ENST00000247207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65008936	A	T	65008936	3	4	148	1	0	0	0	0	1	0	0	0	7413	362	13	5	1371	5	HSPA2	14	65008936	Missense_Mutation	SNP	A	TCGA-HS-A5N7-01A-21D-A26G-09		65008936	42340604	30	10922											
TM6SF1	53346	genome.wustl.edu	37	chr15	83781571	83781571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggactattgtaggggttGctgccctcatcctgttcctg	11	12	1	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr15:83781571G>A	ENST00000322019.9	+	2	389	c.115G>A	c.(115-117)Gct>Act	p.A39T	TM6SF1_ENST00000379390.6_Missense_Mutation_p.A39T|TM6SF1_ENST00000565774.1_Missense_Mutation_p.A39T|RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000379386.4_Missense_Mutation_p.A39T|TM6SF1_ENST00000564988.1_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	39						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						TGTAGGGGTTGCTGCCCTCAT	0.507																																																	0								ENSG00000136404						197	164	175					15																	83781571		2203	4300	6503	TM6SF1	SO:0001583	missense	0			-	HGNC	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.115G>A	15.37:g.83781571G>A	ENSP00000317000:p.Ala39Thr	Somatic	0	78	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	93	36.73	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP							pfam_Transmembrane_6/97	p.A39T	ENST00000322019.9	37	c.115	CCDS10323.1	15	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320224	0.81469	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.8	5.8	0.92144	.	0.297236	0.37857	N	0.001914	T	0.20740	0.0499	N	0.08118	0	0.42515	D	0.992981	P;P;P	0.41313	0.629;0.745;0.534	B;B;B	0.38803	0.146;0.282;0.107	T	0.08638	-1.0712	10	0.54805	T	0.06	-13.8636	18.8219	0.92100	0.0:0.0:1.0:0.0	.	39;39;39	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	T	39	ENSP00000317000:A39T;ENSP00000368696:A39T;ENSP00000368693:A39T;ENSP00000368700:A39T;ENSP00000258909:A39T	ENSP00000258909:A39T	A	+	1	0	TM6SF1	81572575	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	5.220000	0.65267	2.739000	0.93911	0.561000	0.74099	GCT	-	NULL		0.507	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	protein_coding	OTTHUMT00000304009.1	G	NM_023003	-		83781571	1	no_errors	ENST00000379386	ensembl	human	known	74_37	missense	SNP	0.997	A	A	83781571	G	A	83781571	3	1	148	1	0	0	0	0	1	0	0	0	15979	1319	46	2	121	2	TM6SF1	15	83781571	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		83781571	18749821	31	10923											
KIAA0556	23247	genome.wustl.edu	37	chr16	27761600	27761600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctttgaaggagaaatcGccaaggcctctggaaccctg	11	11	2	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr16:27761600G>A	ENST00000261588.4	+	16	3338	c.3319G>A	c.(3319-3321)Gcc>Acc	p.A1107T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1107						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGAGAAATCGCCAAGGCCTC	0.473																																																	0								ENSG00000047578						75	79	78					16																	27761600		2197	4300	6497	KIAA0556	SO:0001583	missense	0			-	HGNC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3319G>A	16.37:g.27761600G>A	ENSP00000261588:p.Ala1107Thr	Somatic	0	20	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	5	61.54	A7E2C2	Missense_Mutation	SNP							superfamily_Thaumatin	p.A1107T	ENST00000261588.4	37	c.3319	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.557224	0.96514	.	.	ENSG00000047578	ENST00000261588	T	0.13657	2.57	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.88105	2.93	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.53683	-0.8404	10	0.72032	D	0.01	-18.5808	18.9572	0.92664	0.0:0.0:1.0:0.0	.	1107	O60303	K0556_HUMAN	T	1107	ENSP00000261588:A1107T	ENSP00000261588:A1107T	A	+	1	0	KIAA0556	27669101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.647000	0.98478	2.621000	0.88768	0.650000	0.86243	GCC	-	NULL		0.473	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	G	NM_015202	-		27761600	1	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27761600	G	A	27761600	3	1	148	1	0	0	0	0	1	0	0	0	8185	1087	38	1	3381	1	KIAA0556	16	27761600	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		27761600	62593153	32	10924											
AMFR	267	genome.wustl.edu	37	chr16	56439139	56439139	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaatcacatgagcagtcctCactgtcacaagaagagacta	7	10	3	3			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr16:56439139C>T	ENST00000290649.5	-	5	894	c.684G>A	c.(682-684)gtG>gtA	p.V228V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	228					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GAGCAGTCCTCACTGTCACAA	0.348																																					Pancreas(2;144 323 39528)												0								ENSG00000159461						66	62	63					16																	56439139		2198	4300	6498	AMFR	SO:0001819	synonymous_variant	0			-	HGNC	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.684G>A	16.37:g.56439139C>T		Somatic	0	40	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	P26442|Q8IZ70	Silent	SNP							pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.V228	ENST00000290649.5	37	c.684	CCDS10758.1	16																																																																																			-	NULL		0.348	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	protein_coding	OTTHUMT00000256978.2	C		-		56439139	-1	no_errors	ENST00000290649	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56439139	C	T	56439139	2	4	148	1	0	0	0	0	0	0	0	1	571	813	29	2		2	AMFR	16	56439139	Silent	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	28677539	56439139	33915614	33	10925											
TNFSF12	8742	genome.wustl.edu	37	chr17	7460466	7460466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagctggacttgctggtGgatggtgtgctggccctgcg	17	9	0	1			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr17:7460466G>A	ENST00000293825.6	+	7	812	c.549G>A	c.(547-549)gtG>gtA	p.V183V	TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000483039.1_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	183					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				ACTTGCTGGTGGATGGTGTGC	0.652																																																	0								ENSG00000239697						119	87	98					17																	7460466		2203	4300	6503	TNFSF12	SO:0001819	synonymous_variant	0			-	HGNC	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.549G>A	17.37:g.7460466G>A		Somatic	0	57	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	Q8IZK7|Q8WUZ7	Silent	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.V183	ENST00000293825.6	37	c.549	CCDS11109.1	17																																																																																			-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom		0.652	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12	protein_coding	OTTHUMT00000226951.2	G	NM_003809	-		7460466	1	no_errors	ENST00000293825	ensembl	human	known	74_37	silent	SNP	0.961	A	A	7460466	G	A	7460466	2	1	148	1	0	0	0	0	0	0	0	1	16310	1335	47	2		2	TNFSF12	17	7460466	Silent	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		7460466	73734744	34	10926											
TP53	7157	genome.wustl.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	14	12	1	0	rs483352695|rs397516437		TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000420246.2_Missense_Mutation_p.M246V	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	CTCCGGTTCATGCCGCCCATG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	GRCh37	CM942294	TP53	M		ENSG00000141510						152	113	126					17																	7577545		2203	4300	6503	TP53	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;	-	HGNC	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.736A>G	17.37:g.7577545T>C	ENSP00000269305:p.Met246Val	Somatic	0	48	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	10	66.67	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.M246V	ENST00000269305.4	37	c.736	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	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	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7577545	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7577545	T	C	7577545	3	2	148	1	0	0	0	0	1	0	0	0	16388	1464	51	5	554	5	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HS-A5N7-01A-21D-A26G-09	117079	7577545	73617665	35	10927											
DNAH2	146754	genome.wustl.edu	37	chr17	7678177	7678177	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgacatattttcccccgcttCtacttcttgtccaatgatga	5	13	2	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr17:7678177C>G	ENST00000572933.1	+	29	6062	c.4602C>G	c.(4600-4602)ttC>ttG	p.F1534L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1534L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1534	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCCCGCTTCTACTTCTTGT	0.448																																																	0								ENSG00000183914						102	98	99					17																	7678177		2203	4300	6503	DNAH2	SO:0001583	missense	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4602C>G	17.37:g.7678177C>G	ENSP00000458355:p.Phe1534Leu	Somatic	0	35	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F1534L	ENST00000572933.1	37	c.4602	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893683	0.72639	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.78003	-1.14	5.44	5.44	0.79542	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	M	0.92026	3.265	0.80722	D	1	D	0.60160	0.987	D	0.69142	0.962	D	0.90698	0.4618	10	0.72032	D	0.01	.	11.527	0.50586	0.0:0.9169:0.0:0.0831	.	1534	Q9P225	DYH2_HUMAN	L	1534	ENSP00000373825:F1534L	ENSP00000353818:F1534L	F	+	3	2	DNAH2	7618902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.203000	0.32284	2.565000	0.86533	0.637000	0.83480	TTC	-	pfam_Dynein_heavy_dom-2		0.448	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	C	NM_020877	-		7678177	1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7678177	C	G	7678177	3	3	148	1	0	0	0	0	1	0	0	0	4604	912	32	4	4712	4	DNAH2	17	7678177	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	100632	7678177	73517033	36	10928											
LRRC37A	9884	genome.wustl.edu	37	chr17	44409004	44409004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaacgtgggcactgaccTgtcccccgagcccaaaagct	9	16	0	1	rs62073248	byFrequency	TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr17:44409004T>C	ENST00000320254.5	+	9	4364	c.4361T>C	c.(4360-4362)cTg>cCg	p.L1454P	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.L492P|LRRC37A_ENST00000393465.3_Missense_Mutation_p.L1454P|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1454						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGCACTGACCTGTCCCCCGAG	0.502																																																	0								ENSG00000176681																																			LRRC37A	SO:0001583	missense	0			-	HGNC	BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.4361T>C	17.37:g.44409004T>C	ENSP00000326324:p.Leu1454Pro	Somatic	0	10	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	Q68DY2|Q8IWC7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1454P	ENST00000320254.5	37	c.4361	CCDS11504.2	17	.	.	.	.	.	.	.	.	.	.	t	6.227	0.410104	0.11812	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.59638	1.45;0.25;0.26	2.49	1.29	0.21616	.	.	.	.	.	T	0.65238	0.2672	L	0.59436	1.845	0.09310	N	1	D;D;D	0.76494	0.999;0.969;0.995	D;P;D	0.75484	0.931;0.651;0.986	T	0.50890	-0.8774	9	0.45353	T	0.12	.	3.2767	0.06901	0.0:0.503:0.0:0.497	.	492;574;1454	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	P	492;1454;1454;1454	ENSP00000437021:L492P;ENSP00000377108:L1454P;ENSP00000326324:L1454P	ENSP00000326324:L1454P	L	+	2	0	LRRC37A	41764765	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.093000	0.15086	0.349000	0.23975	0.347000	0.21830	CTG	-	NULL		0.502	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	protein_coding	OTTHUMT00000313519.3	T	NM_014834	rs200790029		44409004	1	no_errors	ENST00000320254	ensembl	human	known	74_37	missense	SNP	0.000	C	C	44409004	T	C	44409004	3	2	148	1	0	0	0	0	1	0	0	0	8993	1580	55	5	4395	5	LRRC37A	17	44409004	Missense_Mutation	SNP	T	TCGA-HS-A5N7-01A-21D-A26G-09	36730827	44409004	36786206	37	10929											
SDK2	54549	genome.wustl.edu	37	chr17	71434184	71434184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacactcgtagtagccggCgtcactgccggtggggttgg	15	12	2	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr17:71434184C>T	ENST00000392650.3	-	7	835	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	SDK2_ENST00000388726.3_Missense_Mutation_p.A279T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	279	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						TAGTAGCCGGCGTCACTGCCG	0.632																																																	0								ENSG00000069188						28	38	35					17																	71434184		692	1591	2283	SDK2	SO:0001583	missense	0			-	HGNC	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.835G>A	17.37:g.71434184C>T	ENSP00000376421:p.Ala279Thr	Somatic	0	62	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	48	39.24	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A279T	ENST00000392650.3	37	c.835	CCDS45769.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.127|0.127	-1.118380|-1.118380	0.01785|0.01785	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.14766|.	2.48;2.48|.	5.05|5.05	0.127|0.127	0.14727|0.14727	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.404891|.	0.22383|.	U|.	0.060794|.	T|T	0.23532|0.23532	0.0569|0.0569	N|N	0.05608|0.05608	-0.01|-0.01	0.37546|0.37546	D|D	0.918512|0.918512	B|.	0.12630|.	0.006|.	B|.	0.09377|.	0.004|.	T|T	0.09465|0.09465	-1.0673|-1.0673	10|5	0.11182|.	T|.	0.66|.	.|.	5.2619|5.2619	0.15578|0.15578	0.1463:0.5054:0.0:0.3483|0.1463:0.5054:0.0:0.3483	.|.	279|.	Q58EX2|.	SDK2_HUMAN|.	T|H	279|183	ENSP00000376421:A279T;ENSP00000373378:A279T|.	ENSP00000324967:A279T|.	A|R	-|-	1|2	0|0	SDK2|SDK2	68945779|68945779	0.472000|0.472000	0.25870|0.25870	0.974000|0.974000	0.42286|0.42286	0.038000|0.038000	0.13279|0.13279	0.037000|0.037000	0.13840|0.13840	0.166000|0.166000	0.19597|0.19597	0.462000|0.462000	0.41574|0.41574	GCC|CGC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	C	NM_019064	-		71434184	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	SNP	0.879	T	T	71434184	C	T	71434184	3	4	148	1	0	0	0	0	1	0	0	0	13977	768	27	1	5839	1	SDK2	17	71434184	Missense_Mutation	SNP	C	TCGA-HS-A5N7-01A-21D-A26G-09	27025180	71434184	9761026	38	10930											
GPATCH1	55094	genome.wustl.edu	37	chr19	33602767	33602767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcactcacgccaaggagGaggatgactcagatcaggtt	13	9	4	2			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr19:33602767G>A	ENST00000170564.2	+	12	2037	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	575					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CGCCAAGGAGGAGGATGACTC	0.557																																					Pancreas(67;88 1713 4567 18227)												0								ENSG00000076650						110	92	98					19																	33602767		2203	4300	6503	GPATCH1	SO:0001583	missense	0			-	HGNC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1723G>A	19.37:g.33602767G>A	ENSP00000170564:p.Glu575Lys	Somatic	0	42	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP							pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.E575K	ENST00000170564.2	37	c.1723	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762046	0.69763	.	.	ENSG00000076650	ENST00000170564	T	0.32272	1.46	5.51	5.51	0.81932	.	0.257144	0.44902	D	0.000405	T	0.32466	0.0830	M	0.73598	2.24	0.80722	D	1	P	0.36465	0.554	B	0.27500	0.08	T	0.19418	-1.0306	10	0.15952	T	0.53	-25.0513	18.42	0.90587	0.0:0.0:1.0:0.0	.	575	Q9BRR8	GPTC1_HUMAN	K	575	ENSP00000170564:E575K	ENSP00000170564:E575K	E	+	1	0	GPATCH1	38294607	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.346000	0.72999	2.597000	0.87782	0.650000	0.86243	GAG	-	NULL		0.557	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	protein_coding	OTTHUMT00000450834.1	G	NM_018025	-		33602767	1	no_errors	ENST00000170564	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33602767	G	A	33602767	3	1	148	1	0	0	0	0	1	0	0	0	6592	1175	41	2	1769	2	GPATCH1	19	33602767	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		33602767	25526216	39	10931											
DOPEY2	9980	genome.wustl.edu	37	chr21	37617590	37617590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacggcccacggcgccccGgacagcagcgagcacaccga	14	17	0	0			TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chr21:37617590G>A	ENST00000399151.3	+	19	3397	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1104					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						ACGGCGCCCCGGACAGCAGCG	0.647																																																	0								ENSG00000142197						115	86	96					21																	37617590		2203	4300	6503	DOPEY2	SO:0001819	synonymous_variant	0			-	HGNC	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.3312G>A	21.37:g.37617590G>A		Somatic	0	12	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP							pfam_Dopey_N	p.P1104	ENST00000399151.3	37	c.3312	CCDS13643.1	21																																																																																			-	NULL		0.647	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	G	NM_005128	-		37617590	1	no_errors	ENST00000399151	ensembl	human	known	74_37	silent	SNP	0.000	A	A	37617590	G	A	37617590	2	1	148	1	0	0	0	0	0	0	0	1	4710	1103	39	1		1	DOPEY2	21	37617590	Silent	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		37617590	10512305	40	10932											
OFD1	8481	genome.wustl.edu	37	chrX	13771531	13771531	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctacatcattagaactaatcGactgattgaagatgaaagga	8	6	1	5	rs312262864		TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chrX:13771531G>C	ENST00000340096.6	+	11	1427	c.1100G>C	c.(1099-1101)cGa>cCa	p.R367P	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R327P|OFD1_ENST00000380567.1_Missense_Mutation_p.R227P	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	367					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAACTAATCGACTGATTGAA	0.383																																																	0			GRCh37	CM085614	OFD1	M		ENSG00000046651						107	99	101					X																	13771531		2203	4300	6503	OFD1	SO:0001583	missense	0			-	HGNC	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1100G>C	X.37:g.13771531G>C	ENSP00000344314:p.Arg367Pro	Somatic	0	74	0		0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	121	25.77	B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP							superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R367P	ENST00000340096.6	37	c.1100	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	12.44	1.937920	0.34189	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.95980	-2.3;-3.87;-1.83	5.79	-2.56	0.06268	.	0.319691	0.40818	N	0.001016	D	0.95468	0.8528	M	0.62723	1.935	0.18873	N	0.999984	P;D;D;P;D	0.60160	0.874;0.987;0.983;0.946;0.987	P;P;P;P;P	0.55824	0.473;0.785;0.706;0.601;0.785	D	0.92061	0.5656	10	0.45353	T	0.12	-5.8403	15.6677	0.77242	0.7833:0.0:0.2167:0.0	.	190;367;327;227;367	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	P	327;367;227;190	ENSP00000369923:R327P;ENSP00000344314:R367P;ENSP00000369941:R227P	ENSP00000344314:R367P	R	+	2	0	OFD1	13681452	0.001000	0.12720	0.000000	0.03702	0.329000	0.28539	-0.064000	0.11636	-1.291000	0.02368	-0.909000	0.02823	CGA	-	NULL		0.383	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	protein_coding	OTTHUMT00000055808.1	G	NM_003611	-		13771531	1	no_errors	ENST00000340096	ensembl	human	known	74_37	missense	SNP	0.000	C	C	13771531	G	C	13771531	3	2	148	1	0	0	0	0	1	0	0	0	10840	1058	37	4	1142	4	OFD1	23	13771531	Missense_Mutation	SNP	G	TCGA-HS-A5N7-01A-21D-A26G-09		13771531	141499029	41	10933											
AMOT	154796	genome.wustl.edu	37	chrX	112022618	112022644	+	In_Frame_Del	DEL	CTGGAGCAGCAGCAGCAGCAACAGCAA	CTGGAGCAGCAGCAGCAGCAACAGCAA	-													agacggggcagcagcagcagCtggagcagcagcagcagcaa					rs200107563|rs201619225		TCGA-HS-A5N7-01A-21D-A26G-09	TCGA-HS-A5N7-10A-01D-A26G-09	CTGGAGCAGCAGCAGCAGCAACAGCAA	CTGGAGCAGCAGCAGCAGCAACAGCAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ed66c47-3927-4b0d-8bd9-3fcef06f7538	1770637f-2776-4d75-8831-d45979297d85	g.chrX:112022618_112022644delCTGGAGCAGCAGCAGCAGCAACAGCAA	ENST00000524145.1	-	11	2812_2838	c.2738_2764delTTGCTGTTGCTGCTGCTGCTGCTCCAG	c.(2737-2766)gttgctgttgctgctgctgctgctccagct>gct	p.VAVAAAAAP913del	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_In_Frame_Del_p.VAVAAAAAP681del|AMOT_ENST00000304758.1_In_Frame_Del_p.VAVAAAAAP504del|AMOT_ENST00000371959.3_In_Frame_Del_p.VAVAAAAAP913del			Q4VCS5	AMOT_HUMAN	angiomotin	913					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)			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						gcagcagcagctggagcagcagcagcagcaacagcaactggagcagc	0.626																																																	0								ENSG00000126016		,	64,3426		9,34,12,1484,424					,	3.4	0			16	161,5798		24,58,55,2140,1460	no	coding,coding	AMOT	NM_133265.2,NM_001113490.1	,	33,92,67,3624,1884	A1A1,A1R,A1,RR,R		2.7018,1.8338,2.3812	,	,		225,9224				AMOT	SO:0001651	inframe_deletion	0				HGNC	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.2738_2764delTTGCTGTTGCTGCTGCTGCTGCTCCAG	X.37:g.112022618_112022644delCTGGAGCAGCAGCAGCAGCAACAGCAA	ENSP00000429013:p.Val913_Pro921del	Somatic					0.701590058484691				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q504X5|Q9HD27|Q9UPT1	In_Frame_Del	DEL							pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.VAVAAAAAP913in_frame_del	ENST00000524145.1	37	c.2764_2738	CCDS48154.1	X																																																																																			-	NULL		0.626	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	CTGGAGCAGCAGCAGCAGCAACAGCAA	NM_133265			112022644	-1	no_errors	ENST00000371959	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.002:0.001:0.005:0.079:0.099:0.118:0.121:0.120:0.097:0.094:0.002:0.051:0.890:0.970:0.967:0.966:0.809:0.003:0.000:0.000:0.001:0.207:0.194:0.198:0.522	-	-	112022644	CTGGAGCAGCAGCAGCAGCAACAGCAA	-	112022618	7	5	148	1	0	1	0	1	0	0	0	0	582	797	28	0	498	0	AMOT	23	112022618	In_Frame_Del	DEL	CTGGAGCAGCAGCAGCAGCAACAGCAA	TCGA-HS-A5N7-01A-21D-A26G-09	98251087	112022618	43247942	42	10934											
F5	2153	genome.wustl.edu	37	chr1	169509969	169509969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtctggaggaggtgatatCtggctgagatccgggagaag	18	5	2	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr1:169509969C>G	ENST00000367797.3	-	13	4560	c.4359G>C	c.(4357-4359)caG>caC	p.Q1453H	F5_ENST00000367796.3_Missense_Mutation_p.Q1458H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1453	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAGGTGATATCTGGCTGAGAT	0.473																																																	0								ENSG00000198734						79	83	82					1																	169509969		2203	4300	6503	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4359G>C	1.37:g.169509969C>G	ENSP00000356771:p.Gln1453His	Somatic	0	44	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	44	34.33	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1453H	ENST00000367797.3	37	c.4359	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	c	7.786	0.710624	0.15239	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98164	-4.76;-4.76	5.64	-0.408	0.12381	.	2.122730	0.02254	N	0.066879	D	0.91952	0.7451	L	0.49350	1.555	0.21579	N	0.999636	B	0.10296	0.003	B	0.08055	0.003	T	0.82926	-0.0215	9	0.44086	T	0.13	0.1104	1.678	0.02826	0.1427:0.3592:0.2959:0.2022	.	1453	P12259	FA5_HUMAN	H	1453;1458	ENSP00000356771:Q1453H;ENSP00000356770:Q1458H	ENSP00000356770:Q1458H	Q	-	3	2	F5	167776593	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	0.161000	0.16481	-0.400000	0.07656	0.591000	0.81541	CAG	-	NULL		0.473	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169509969	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	0.017	G	G	169509969	C	G	169509969	3	3	149	1	0	0	0	0	1	0	0	0	5350	912	32	4	2367	4	F5	1	169509969	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		169509969	79740652	1	10935											
PRELP	5549	genome.wustl.edu	37	chr1	203455877	203455877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccaacgacctagtggcgttCcatgacttctcctcggacct	8	16	1	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr1:203455877C>A	ENST00000343110.2	+	3	1144	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	339					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)			TAGTGGCGTTCCATGACTTCT	0.557																																																	0								ENSG00000188783						118	104	109					1																	203455877		2203	4300	6503	PRELP	SO:0001583	missense	0			-	HGNC	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.1017C>A	1.37:g.203455877C>A	ENSP00000343924:p.Phe339Leu	Somatic	0	87	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	49	34.67	Q6FG38	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.F339L	ENST00000343110.2	37	c.1017	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355599	0.24598	.	.	ENSG00000188783	ENST00000343110	T	0.39787	1.06	5.45	4.55	0.56014	.	0.234157	0.36409	N	0.002613	T	0.18509	0.0444	N	0.03608	-0.345	0.41182	D	0.986244	B	0.06786	0.001	B	0.06405	0.002	T	0.07597	-1.0764	10	0.10902	T	0.67	-1.0179	11.123	0.48302	0.0:0.9142:0.0:0.0858	.	339	P51888	PRELP_HUMAN	L	339	ENSP00000343924:F339L	ENSP00000343924:F339L	F	+	3	2	PRELP	201722500	1.000000	0.71417	0.977000	0.42913	0.784000	0.44337	2.264000	0.43302	1.302000	0.44855	0.555000	0.69702	TTC	-	NULL		0.557	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	protein_coding	OTTHUMT00000087474.1	C	NM_002725	-		203455877	1	no_errors	ENST00000343110	ensembl	human	known	74_37	missense	SNP	1.000	A	A	203455877	C	A	203455877	3	1	149	1	0	0	0	0	1	0	0	0	12478	854	30	3	1023	3	PRELP	1	203455877	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	33945908	203455877	45794744	2	10936											
C4BPA	722	genome.wustl.edu	37	chr1	207300183	207300183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctcagaggcagcagtGtaattcattgtgatgctgat	11	6	2	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr1:207300183G>T	ENST00000367070.3	+	7	1026	c.832G>T	c.(832-834)Gta>Tta	p.V278L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	278	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AGGCAGCAGTGTAATTCATTG	0.403																																																	0								ENSG00000123838						185	161	169					1																	207300183		2203	4300	6503	C4BPA	SO:0001583	missense	0			-	HGNC	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.832G>T	1.37:g.207300183G>T	ENSP00000356037:p.Val278Leu	Somatic	0	38	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q5VVQ8	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V278L	ENST00000367070.3	37	c.832	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	G	1.315	-0.600982	0.03744	.	.	ENSG00000123838	ENST00000367070	T	0.66460	-0.21	5.75	-11.5	0.00074	Complement control module (2);Sushi/SCR/CCP (3);	1.766220	0.02858	N	0.129976	T	0.44435	0.1293	N	0.16368	0.405	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.19516	-1.0303	10	0.18276	T	0.48	.	11.5064	0.50468	0.3279:0.0:0.5393:0.1328	.	278	P04003	C4BPA_HUMAN	L	278	ENSP00000356037:V278L	ENSP00000356037:V278L	V	+	1	0	C4BPA	205366806	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.804000	0.00362	-2.563000	0.00472	-0.485000	0.04761	GTA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	protein_coding	OTTHUMT00000088089.3	G		-		207300183	1	no_errors	ENST00000367070	ensembl	human	known	74_37	missense	SNP	0.000	T	T	207300183	G	T	207300183	3	4	149	1	0	0	0	0	1	0	0	0	2251	1377	48	3	854	3	C4BPA	1	207300183	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	3844306	207300183	41950438	3	10937											
PLXNA2	5362	genome.wustl.edu	37	chr1	208390563	208390563	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcaaagtgggagacCagggccagggtgtctgaagg	17	6	2	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr1:208390563C>G	ENST00000367033.3	-	2	1462	c.705G>C	c.(703-705)ctG>ctC	p.L235L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	235	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGTGGGAGACCAGGGCCAGGG	0.552																																																	0								ENSG00000076356						179	187	185					1																	208390563		2203	4300	6503	PLXNA2	SO:0001819	synonymous_variant	0			-	HGNC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.705G>C	1.37:g.208390563C>G		Somatic	0	60	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	46	29.23	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L235	ENST00000367033.3	37	c.705	CCDS31013.1	1																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.552	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	C	NM_025179	-		208390563	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	SNP	0.993	G	G	208390563	C	G	208390563	2	3	149	1	0	0	0	0	0	0	0	1	12122	581	21	4		4	PLXNA2	1	208390563	Silent	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	1090380	208390563	40860058	4	10938											
SYT14	255928	genome.wustl.edu	37	chr1	210267894	210267896	+	In_Frame_Del	DEL	GAA	GAA	-													gttttcataataaaggatatGaagaagatgttccaagtgac					rs144713062|rs200839898|rs2307890	byFrequency	TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr1:210267894_210267896delGAA	ENST00000472886.1	+	5	684_686	c.670_672delGAA	c.(670-672)gaadel	p.E225del	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_In_Frame_Del_p.E270del|SYT14_ENST00000399639.2_In_Frame_Del_p.E225del|SYT14_ENST00000367019.1_In_Frame_Del_p.E225del|SYT14_ENST00000534859.1_In_Frame_Del_p.E225del|SYT14_ENST00000537238.1_In_Frame_Del_p.E187del|SYT14_ENST00000367015.1_In_Frame_Del_p.E187del			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	225					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TAAAGGATATGAAGAAGATGTTC	0.384														399	0.0796725	0.0098	0.0677	5008	,	,		16957	0.0655		0.1421	False		,,,				2504	0.1329																0								ENSG00000143469		,,,	107,4159		4,99,2030					,,,	2.2	1		dbSNP_134	76	1145,7109		84,977,3066	no	coding,coding,coding,coding	SYT14	NM_153262.2,NM_001146264.1,NM_001146262.1,NM_001146261.1	,,,	88,1076,5096	A1A1,A1R,RR		13.8721,2.5082,10.0	,,,	,,,		1252,11268				SYT14	SO:0001651	inframe_deletion	0				HGNC	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.670_672delGAA	1.37:g.210267897_210267899delGAA	ENSP00000418901:p.Glu225del	Somatic	0	9	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	In_Frame_Del	DEL							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E270in_frame_del	ENST00000472886.1	37	c.805_807	CCDS31014.1	1																																																																																			-	NULL		0.384	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	protein_coding	OTTHUMT00000089124.1	GAA	NM_153262			210267896	1	no_errors	ENST00000422431	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	210267896	GAA	-	210267894	7	5	149	1	0	1	0	1	0	0	0	0	15477	1291	45	0	827	0	SYT14	1	210267894	In_Frame_Del	DEL	GAA	TCGA-HS-A5N8-01A-11D-A26G-09	1877331	210267894	38982727	5	10939											
DPYSL5	56896	genome.wustl.edu	37	chr2	27121590	27121590	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttccaccagaccttcatgAatgccacgtgcgtggacgac	9	14	1	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr2:27121590A>T	ENST00000288699.6	+	2	381	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.N75Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	75					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTCATGAATGCCACGTG	0.537																																																	0								ENSG00000157851						93	86	89					2																	27121590		2203	4300	6503	DPYSL5	SO:0001583	missense	0			-	HGNC	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.223A>T	2.37:g.27121590A>T	ENSP00000288699:p.Asn75Tyr	Somatic	0	60	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP							pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.N75Y	ENST00000288699.6	37	c.223	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165345	0.78339	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.90197	-1.09;-2.63;-2.63;-1.1;-1.1	4.99	4.99	0.66335	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.69358	2.11	0.51233	D	0.999918	D	0.58620	0.983	P	0.60789	0.879	D	0.94225	0.7471	10	0.87932	D	0	-28.7159	13.9664	0.64211	1.0:0.0:0.0:0.0	.	75	Q9BPU6	DPYL5_HUMAN	Y	75	ENSP00000407174:N75Y;ENSP00000288699:N75Y;ENSP00000385549:N75Y;ENSP00000399581:N75Y;ENSP00000413075:N75Y	ENSP00000288699:N75Y	N	+	1	0	DPYSL5	26975094	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	4.975000	0.63777	2.002000	0.58637	0.533000	0.62120	AAT	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.537	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	protein_coding	OTTHUMT00000214187.2	A	NM_020134	-		27121590	1	no_errors	ENST00000288699	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27121590	A	T	27121590	3	4	149	1	0	0	0	0	1	0	0	0	4752	246	9	5	225	5	DPYSL5	2	27121590	Missense_Mutation	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09		27121590	216077783	6	10940											
ALK	238	genome.wustl.edu	37	chr2	30143133	30143133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgccggagcttgcgcacGgagccgcccttcagcaccct	12	18	1	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr2:30143133G>A	ENST00000389048.3	-	1	1299	c.393C>T	c.(391-393)tcC>tcT	p.S131S	ALK_ENST00000431873.1_Silent_p.S131S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	131					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S131S(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTTGCGCACGGAGCCGCCCT	0.741			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	1	Substitution - coding silent(1)	lung(1)						ENSG00000171094						6	9	8					2																	30143133		2154	4236	6390	ALK	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	-	HGNC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.393C>T	2.37:g.30143133G>A		Somatic	0	29	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S131	ENST00000389048.3	37	c.393	CCDS33172.1	2																																																																																			-	NULL		0.741	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	G	NM_004304	-		30143133	-1	no_errors	ENST00000389048	ensembl	human	known	74_37	silent	SNP	0.851	A	A	30143133	G	A	30143133	2	1	149	1	0	0	0	0	0	0	0	1	525	1103	39	1		1	ALK	2	30143133	Silent	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	3021543	30143133	213056240	7	10941											
SPTBN1	6711	genome.wustl.edu	37	chr2	54839385	54839385	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaaggagcagagagtccatCttgagaacatggggtcccat	13	8	1	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr2:54839385C>G	ENST00000356805.4	+	4	669	c.388C>G	c.(388-390)Ctt>Gtt	p.L130V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L117V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	130	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAGTCCATCTTGAGAACAT	0.547																																																	0								ENSG00000115306						143	126	132					2																	54839385		2203	4300	6503	SPTBN1	SO:0001583	missense	0			-	HGNC		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.388C>G	2.37:g.54839385C>G	ENSP00000349259:p.Leu130Val	Somatic	0	93	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	54	43.16	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L130V	ENST00000356805.4	37	c.388	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.147054	0.94603	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.97186	0.07;0.07;-4.28	5.6	5.6	0.85130	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	L	0.48986	1.54	0.80722	D	1	D;D	0.58620	0.957;0.983	P;D	0.65573	0.819;0.936	D	0.98452	1.0592	10	0.87932	D	0	.	19.9698	0.97280	0.0:1.0:0.0:0.0	.	117;130	Q01082-3;Q01082	.;SPTB2_HUMAN	V	130;130;117	ENSP00000349259:L130V;ENSP00000374630:L130V;ENSP00000334156:L117V	ENSP00000334156:L117V	L	+	1	0	SPTBN1	54692889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.878000	0.63093	2.786000	0.95864	0.561000	0.74099	CTT	-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.547	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	protein_coding	OTTHUMT00000258115.3	C		-		54839385	1	no_errors	ENST00000356805	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54839385	C	G	54839385	3	3	149	1	0	0	0	0	1	0	0	0	15126	913	32	4	511	4	SPTBN1	2	54839385	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	24696252	54839385	188359988	8	10942											
FIGLA	344018	genome.wustl.edu	37	chr2	71012615	71012634	+	Frame_Shift_Del	DEL	CACCACTGCCACCATCTGCC	CACCACTGCCACCATCTGCC	-													gcgacaagcgtgtgctggctCaccactgccaccatctgccc					rs530282949|rs199858072|rs371010099|rs373484578		TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	CACCACTGCCACCATCTGCC	CACCACTGCCACCATCTGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr2:71012615_71012634delCACCACTGCCACCATCTGCC	ENST00000332372.6	-	3	526_545	c.522_541delGGCAGATGGTGGCAGTGGTG	c.(520-543)tgggcagatggtggcagtggtgagfs	p.WADGGSGE174fs		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	174					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						TGTGCTGGCTCACCACTGCCACCATCTGCCCAAGGCCCTT	0.473																																																	0								ENSG00000183733																																			FIGLA	SO:0001589	frameshift_variant	0				HGNC	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.522_541delGGCAGATGGTGGCAGTGGTG	2.37:g.71012615_71012634delCACCACTGCCACCATCTGCC	ENSP00000333097:p.Trp174fs	Somatic					0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.W174fs	ENST00000332372.6	37	c.541_522	CCDS46320.1	2																																																																																			-	NULL		0.473	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	protein_coding	OTTHUMT00000331214.1	CACCACTGCCACCATCTGCC	NM_001004311			71012634	-1	no_errors	ENST00000332372	ensembl	human	known	74_37	frame_shift_del	DEL	0.953:0.953:0.995:0.997:0.997:0.998:0.999:1.000:1.000:0.998:0.961:0.960:0.964:0.956:0.996:0.999:1.000:1.000:1.000:1.000	-	-	71012634	CACCACTGCCACCATCTGCC	-	71012615	7	5	149	1	0	1	0	1	0	0	0	0	5892	835	29	0	130	0	FIGLA	2	71012615	Frame_Shift_Del	DEL	CACCACTGCCACCATCTGCC	TCGA-HS-A5N8-01A-11D-A26G-09	16173230	71012615	172186758	9	10943											
GALNT3	2591	genome.wustl.edu	37	chr2	166605335	166605335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttggagtggatctgatgGgttgcatgacactaaacttg	12	5	1	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr2:166605335G>T	ENST00000392701.3	-	11	2633	c.1858C>A	c.(1858-1860)Cca>Aca	p.P620T	GALNT3_ENST00000409882.1_Missense_Mutation_p.P358T	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	620	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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 via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GGATCTGATGGGTTGCATGAC	0.333																																																	0								ENSG00000115339						91	87	88					2																	166605335		2203	4299	6502	GALNT3	SO:0001583	missense	0			-	HGNC		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1858C>A	2.37:g.166605335G>T	ENSP00000376465:p.Pro620Thr	Somatic	0	64	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	Q53TG9|Q7Z476	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P620T	ENST00000392701.3	37	c.1858	CCDS2226.1	2	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088431	0.20390	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.76968	-1.06;-1.06	5.86	4.04	0.47022	Ricin B-related lectin (1);Ricin B lectin (3);	0.108090	0.64402	N	0.000005	T	0.68833	0.3044	L	0.45422	1.42	0.51233	D	0.999918	B	0.06786	0.001	B	0.15052	0.012	T	0.60367	-0.7277	10	0.18710	T	0.47	.	12.991	0.58618	0.0:0.1237:0.7474:0.1289	.	620	Q14435	GALT3_HUMAN	T	620;358	ENSP00000376465:P620T;ENSP00000386955:P358T	ENSP00000376465:P620T	P	-	1	0	GALNT3	166313581	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.994000	0.49433	0.796000	0.33947	0.563000	0.77884	CCA	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	protein_coding	OTTHUMT00000255205.2	G	NM_004482	-		166605335	-1	no_errors	ENST00000392701	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166605335	G	T	166605335	3	4	149	1	0	0	0	0	1	0	0	0	6216	1232	43	3	47	3	GALNT3	2	166605335	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	95592720	166605335	76594038	10	10944											
TTN	7273	genome.wustl.edu	37	chr2	179560896	179560896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtggactgcttgctttttCtcatacacagcttctttttc	6	10	2	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr2:179560896C>G	ENST00000591111.1	-	112	30176	c.29952G>C	c.(29950-29952)gaG>gaC	p.E9984D	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E10301D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9057D|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-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)			CTTGCTTTTTCTCATACACAG	0.378																																																	0								ENSG00000155657						96	78	83					2																	179560896		1816	4048	5864	TTN	SO:0001583	missense	0			-	HGNC	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.29952G>C	2.37:g.179560896C>G	ENSP00000465570:p.Glu9984Asp	Somatic	0	122	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	52	30.26	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E9057D	ENST00000591111.1	37	c.27171		2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876204	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.67345	-0.26	5.5	3.67	0.42095	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63498	0.2516	M	0.66939	2.045	0.80722	D	1	B;B	0.27791	0.162;0.189	B;B	0.31495	0.055;0.131	T	0.65569	-0.6136	9	0.87932	D	0	.	8.1011	0.30857	0.0:0.8074:0.0:0.1926	.	9984;9984	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	D	9057;179	ENSP00000343764:E9057D	ENSP00000343764:E9057D	E	-	3	2	TTN	179269141	0.999000	0.42202	0.997000	0.53966	0.382000	0.30200	1.019000	0.30014	1.298000	0.44778	0.650000	0.86243	GAG	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179560896	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.998	G	G	179560896	C	G	179560896	3	3	149	1	0	0	0	0	1	0	0	0	16742	912	32	4	73622	4	TTN	2	179560896	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	12955561	179560896	63638477	11	10945											
PLXNB1	5364	genome.wustl.edu	37	chr3	48461323	48461323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctctgacggtgacagcGgggaggccaagaggtcctca	14	12	2	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr3:48461323G>A	ENST00000358536.4	-	11	2641	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P791L|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	791	Pro-rich.				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)		CGGTGACAGCGGGGAGGCCAA	0.667																																																	0								ENSG00000164050						15	19	17					3																	48461323		2202	4298	6500	PLXNB1	SO:0001583	missense	0			-	HGNC	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.2372C>T	3.37:g.48461323G>A	ENSP00000351338:p.Pro791Leu	Somatic	0	29	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P791L	ENST00000358536.4	37	c.2372	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	5.258	0.233016	0.09969	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03065	4.06;4.06	4.55	-6.07	0.02158	.	1.257560	0.05603	N	0.576682	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.49341	-0.8950	10	0.12430	T	0.62	.	6.0747	0.19909	0.2833:0.0:0.3547:0.362	.	791	O43157	PLXB1_HUMAN	L	791	ENSP00000296440:P791L;ENSP00000351338:P791L	ENSP00000296440:P791L	P	-	2	0	PLXNB1	48436327	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.115000	0.10741	-0.620000	0.05641	0.455000	0.32223	CCG	-	NULL		0.667	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	G	NM_002673	-		48461323	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	SNP	0.000	A	A	48461323	G	A	48461323	3	1	149	1	0	0	0	0	1	0	0	0	12125	1116	39	1	4147	1	PLXNB1	3	48461323	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09		48461323	149561107	12	10946											
CRYBG3	131544	genome.wustl.edu	37	chr3	97596769	97596769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcatcagtatctgcagacttCccaaagtcattcctcagaaa	5	12	5	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr3:97596769C>G	ENST00000182096.4	+	1	951	c.887C>G	c.(886-888)tCc>tGc	p.S296C		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2244							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTGCAGACTTCCCAAAGTCAT	0.423																																																	0								ENSG00000080200						81	76	78					3																	97596769		1814	4091	5905	CRYBG3	SO:0001583	missense	0			-	HGNC			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.887C>G	3.37:g.97596769C>G	ENSP00000182096:p.Ser296Cys	Somatic	0	52	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP							pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S296C	ENST00000182096.4	37	c.887		3	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815322	0.50527	.	.	ENSG00000080200	ENST00000182096	T	0.75477	-0.94	5.7	4.79	0.61399	.	1.058720	0.07304	N	0.874627	T	0.73690	0.3619	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	P	0.49999	0.628	T	0.69978	-0.4998	10	0.66056	D	0.02	.	15.1374	0.72579	0.0:0.8601:0.1399:0.0	.	296	Q68DQ2	CRBG3_HUMAN	C	296	ENSP00000182096:S296C	ENSP00000182096:S296C	S	+	2	0	CRYBG3	99079459	0.946000	0.32159	0.962000	0.40283	0.527000	0.34593	1.598000	0.36740	2.705000	0.92388	0.505000	0.49811	TCC	-	NULL		0.423	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	protein_coding	OTTHUMT00000353751.1	C	NM_153605	-		97596769	1	no_errors	ENST00000182096	ensembl	human	known	74_37	missense	SNP	0.943	G	G	97596769	C	G	97596769	3	3	149	1	0	0	0	0	1	0	0	0	3915	855	30	4	889	4	CRYBG3	3	97596769	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	49135446	97596769	100425661	13	10947											
HTR3C	170572	genome.wustl.edu	37	chr3	183776224	183776224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttccagtggacagcaTgctgctgggcatggacaagg	13	12	0	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr3:183776224T>G	ENST00000318351.1	+	6	603	c.569T>G	c.(568-570)aTg>aGg	p.M190R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	190					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GTGGACAGCATGCTGCTGGGC	0.577																																																	0								ENSG00000178084						77	65	69					3																	183776224		2203	4300	6503	HTR3C	SO:0001583	missense	0			-	HGNC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.569T>G	3.37:g.183776224T>G	ENSP00000322617:p.Met190Arg	Somatic	0	43	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A2RRR5	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.M190R	ENST00000318351.1	37	c.569	CCDS3250.1	3	.	.	.	.	.	.	.	.	.	.	.	8.383	0.837977	0.16891	.	.	ENSG00000178084	ENST00000318351	T	0.79352	-1.26	5.26	2.87	0.33458	Neurotransmitter-gated ion-channel ligand-binding (3);	0.427798	0.27388	N	0.019584	T	0.64316	0.2587	L	0.35487	1.065	0.09310	N	1	B	0.17038	0.02	B	0.19391	0.025	T	0.57458	-0.7808	10	0.87932	D	0	-20.0346	5.2989	0.15768	0.0:0.0899:0.1788:0.7312	.	190	Q8WXA8	5HT3C_HUMAN	R	190	ENSP00000322617:M190R	ENSP00000322617:M190R	M	+	2	0	HTR3C	185258918	0.023000	0.18921	0.016000	0.15963	0.397000	0.30659	1.004000	0.29822	0.455000	0.26910	0.533000	0.62120	ATG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.577	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	protein_coding	OTTHUMT00000346296.1	T	NM_130770	-		183776224	1	no_errors	ENST00000318351	ensembl	human	known	74_37	missense	SNP	0.037	G	G	183776224	T	G	183776224	3	3	149	1	0	0	0	0	1	0	0	0	7448	1464	51	5	591	5	HTR3C	3	183776224	Missense_Mutation	SNP	T	TCGA-HS-A5N8-01A-11D-A26G-09	86179455	183776224	14246206	14	10948											
MYL5	4636	genome.wustl.edu	37	chr4	675704	675704	+	Frame_Shift_Del	DEL	C	C	-													ggaccagatgttccagttcgCctccatcgatgtggcgggca							TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr4:675704delC	ENST00000400159.2	+	7	548	c.443delC	c.(442-444)gccfs	p.A148fs	MYL5_ENST00000506838.1_Frame_Shift_Del_p.A107fs|MFSD7_ENST00000404286.2_3'UTR|MFSD7_ENST00000347950.5_3'UTR|MYL5_ENST00000511290.1_Frame_Shift_Del_p.A107fs|MYL5_ENST00000505477.1_Frame_Shift_Del_p.A107fs|MFSD7_ENST00000515118.1_3'UTR|MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000322224.4_3'UTR	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						TTCCAGTTCGCCTCCATCGAT	0.647																																																	0								ENSG00000215375						28	29	29					4																	675704		2195	4299	6494	MYL5	SO:0001589	frameshift_variant	0				HGNC		CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"Myosins / Light chain", "EF-hand domain containing"	7586	protein-coding gene	gene with protein product		160782	"myosin, light polypeptide 5, regulatory"			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.443delC	4.37:g.675704delC	ENSP00000383023:p.Ala148fs	Somatic	0	34	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q8IXL8	Frame_Shift_Del	DEL							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.S149fs	ENST00000400159.2	37	c.443	CCDS43197.1	4																																																																																			-	NULL		0.647	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL5	protein_coding	OTTHUMT00000358570.2	C	NM_002477			675704	1	no_errors	ENST00000400159	ensembl	human	known	74_37	frame_shift_del	DEL	0.366	-	-	675704	C	-	675704	7	5	149	1	0	1	0	1	0	0	0	0	10052	739	26	0	469	0	MYL5	4	675704	Frame_Shift_Del	DEL	C	TCGA-HS-A5N8-01A-11D-A26G-09		675704	190478572	15	10949											
HAUS3	79441	genome.wustl.edu	37	chr4	2237996	2237996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcctccttgatacaaagTatcacaaagcatgtccacat	4	11	1	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr4:2237996T>C	ENST00000243706.4	-	4	1766	c.1537A>G	c.(1537-1539)Act>Gct	p.T513A	POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.T513A|HAUS3_ENST00000506763.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	513					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGATACAAAGTATCACAAAGC	0.343																																																	0								ENSG00000214367						91	87	89					4																	2237996		2203	4300	6503	HAUS3	SO:0001583	missense	0			-	HGNC	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1537A>G	4.37:g.2237996T>C	ENSP00000243706:p.Thr513Ala	Somatic	0	36	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP							NULL	p.T513A	ENST00000243706.4	37	c.1537	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	T	2.082	-0.410466	0.04799	.	.	ENSG00000214367	ENST00000243706;ENST00000443786	T;T	0.39997	1.05;1.05	5.71	0.459	0.16678	.	0.412525	0.23334	N	0.049312	T	0.10594	0.0259	N	0.01668	-0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	10	0.07175	T	0.84	-27.2946	2.2516	0.04044	0.1252:0.4429:0.1223:0.3095	.	513	Q68CZ6	HAUS3_HUMAN	A	513	ENSP00000243706:T513A;ENSP00000392903:T513A	ENSP00000243706:T513A	T	-	1	0	HAUS3	2207794	0.505000	0.26131	0.980000	0.43619	0.910000	0.53928	0.022000	0.13511	0.367000	0.24454	-0.137000	0.14449	ACT	-	NULL		0.343	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	protein_coding	OTTHUMT00000357446.1	T	NM_024511	-		2237996	-1	no_errors	ENST00000243706	ensembl	human	known	74_37	missense	SNP	0.698	C	C	2237996	T	C	2237996	3	2	149	1	0	0	0	0	1	0	0	0	6969	1638	57	5	282	5	HAUS3	4	2237996	Missense_Mutation	SNP	T	TCGA-HS-A5N8-01A-11D-A26G-09	1562292	2237996	188916280	16	10950											
FRYL	285527	genome.wustl.edu	37	chr4	48588693	48588693	+	Missense_Mutation	SNP	G	G	A													accgtcaggaatcaaccttgGaatcgcagcaatacaagttc							TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr4:48588693G>A	ENST00000503238.1	-	16	1692	c.1693C>T	c.(1693-1695)Cca>Tca	p.P565S	FRYL_ENST00000537810.1_Missense_Mutation_p.P565S|FRYL_ENST00000358350.4_Missense_Mutation_p.P565S|FRYL_ENST00000506685.1_Missense_Mutation_p.P271S|FRYL_ENST00000507711.1_Missense_Mutation_p.P565S|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	565					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						ATCAACCTTGGAATCGCAGCA	0.348																																																	0								ENSG00000075539						138	130	132					4																	48588693		1841	4092	5933	FRYL	SO:0001583	missense	0			-	HGNC	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.1693C>T	4.37:g.48588693G>A	ENSP00000426064:p.Pro565Ser	Somatic	0	41	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P565S	ENST00000503238.1	37	c.1693	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667773	0.88348	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.61392	3.55;3.55;3.55;3.55;0.11	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.79787	0.4506	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.992;1.0	T	0.81769	-0.0781	10	0.87932	D	0	.	19.9197	0.97082	0.0:0.0:1.0:0.0	.	565;565	F2Z2S2;O94915	.;FRYL_HUMAN	S	565;565;565;565;271	ENSP00000426064:P565S;ENSP00000351113:P565S;ENSP00000441114:P565S;ENSP00000421584:P565S;ENSP00000425592:P271S	ENSP00000351113:P565S	P	-	1	0	FRYL	48283450	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.384000	0.97219	2.702000	0.92279	0.655000	0.94253	CCA	-	superfamily_ARM-type_fold		0.348	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	G		-		48588693	-1	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48588693	G	A	48588693	3	1	149	1	0	0	0	0	1	0	0	0	6066	1174	41	2	7532	2	FRYL	4	48588693	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	46350697	48588693	142565583	17	10951	178	2									
FRYL	285527	genome.wustl.edu	37	chr4	48588694	48588694	+	Silent	SNP	A	A	T													ccgtcaggaatcaaccttggAatcgcagcaatacaagttct							TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr4:48588694A>T	ENST00000503238.1	-	16	1691	c.1692T>A	c.(1690-1692)atT>atA	p.I564I	FRYL_ENST00000537810.1_Silent_p.I564I|FRYL_ENST00000358350.4_Silent_p.I564I|FRYL_ENST00000506685.1_Silent_p.I270I|FRYL_ENST00000507711.1_Silent_p.I564I|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	564					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						TCAACCTTGGAATCGCAGCAA	0.353																																																	0								ENSG00000075539						138	130	132					4																	48588694		1841	4092	5933	FRYL	SO:0001819	synonymous_variant	0			-	HGNC	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.1692T>A	4.37:g.48588694A>T		Somatic	0	41	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	O95640|Q8WTZ5|Q9NT40	Silent	SNP							superfamily_ARM-type_fold	p.I564	ENST00000503238.1	37	c.1692	CCDS43227.1	4																																																																																			-	superfamily_ARM-type_fold		0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	A		-		48588694	-1	no_errors	ENST00000358350	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48588694	A	T	48588694	2	4	149	1	0	0	0	0	0	0	0	1	6066	242	9	5		5	FRYL	4	48588694	Silent	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09	1	48588694	142565582	18	10952	178	2									
TRIO	7204	genome.wustl.edu	37	chr5	14405992	14405992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcaggactggataaaGcatatccgcgaagtcatcca	9	10	1	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr5:14405992G>A	ENST00000344204.4	+	32	4776	c.4752G>A	c.(4750-4752)aaG>aaA	p.K1584K	TRIO_ENST00000537187.1_Silent_p.K1584K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1584	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					ACTGGATAAAGCATATCCGCG	0.542																																																	0								ENSG00000038382						61	54	57					5																	14405992		2203	4300	6503	TRIO	SO:0001819	synonymous_variant	0			-	HGNC	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.4752G>A	5.37:g.14405992G>A		Somatic	0	27	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.K1584	ENST00000344204.4	37	c.4752	CCDS3883.1	5																																																																																			-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	G	NM_007118	-		14405992	1	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	SNP	1.000	A	A	14405992	G	A	14405992	2	1	149	1	0	0	0	0	0	0	0	1	16559	962	34	2		2	TRIO	5	14405992	Silent	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09		14405992	166509268	19	10953											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33614360	33614360	+	Frame_Shift_Del	DEL	C	C	-													cacctgtcccgcaggtcacaCtgcactctgtccagtggccg							TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr5:33614360delC	ENST00000504830.1	-	16	2845	c.2510delG	c.(2509-2511)agtfs	p.S837fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.S752fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	837	TSP type-1 2. {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						GCAGGTCACACTGCACTCTGT	0.498										HNSCC(64;0.19)																																							0								ENSG00000151388						165	116	132					5																	33614360		2203	4300	6503	ADAMTS12	SO:0001589	frameshift_variant	0				HGNC	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.2510delG	5.37:g.33614360delC	ENSP00000422554:p.Ser837fs	Somatic	0	62	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S837fs	ENST00000504830.1	37	c.2510	CCDS34140.1	5																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	C	NM_030955			33614360	-1	no_errors	ENST00000504830	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	33614360	C	-	33614360	7	5	149	1	0	1	0	1	0	0	0	0	257	565	20	0	2310	0	ADAMTS12	5	33614360	Frame_Shift_Del	DEL	C	TCGA-HS-A5N8-01A-11D-A26G-09	19208368	33614360	147300900	20	10954											
RPS23	6228	genome.wustl.edu	37	chr5	81571946	81571946	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttatgatcttggtctttcCttcttgcctttgtatagggc	8	8	3	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr5:81571946C>G	ENST00000296674.8	-	4	667	c.414G>C	c.(412-414)aaG>aaC	p.K138N	RPS23_ENST00000510210.1_Intron|RPS23_ENST00000512493.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000503605.1_5'Flank|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000510019.1_Missense_Mutation_p.K80N	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	138					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)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTGGTCTTTCCTTCTTGCCTT	0.383																																																	0								ENSG00000186468						85	81	82					5																	81571946		1836	4082	5918	RPS23	SO:0001583	missense	0			-	HGNC	AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"S ribosomal proteins"	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.414G>C	5.37:g.81571946C>G	ENSP00000296674:p.Lys138Asn	Somatic	0	31	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	P39028|Q6IB08	Missense_Mutation	SNP							pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc	p.K138N	ENST00000296674.8	37	c.414	CCDS47241.1	5	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729931	0.48833	.	.	ENSG00000186468	ENST00000296674;ENST00000510019	.	.	.	5.26	1.38	0.22167	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.096296	0.64402	D	0.000001	T	0.77772	0.4180	H	0.95850	3.73	0.80722	D	1	B	0.29886	0.26	B	0.38056	0.264	T	0.77905	-0.2413	9	0.87932	D	0	.	10.6791	0.45804	0.0:0.6601:0.0:0.3399	.	138	P62266	RS23_HUMAN	N	138;80	.	ENSP00000296674:K138N	K	-	3	2	RPS23	81607702	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.596000	0.46205	0.220000	0.20860	-0.291000	0.09656	AAG	-	pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc		0.383	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS23	protein_coding	OTTHUMT00000369546.2	C	NM_001025	-		81571946	-1	no_errors	ENST00000296674	ensembl	human	known	74_37	missense	SNP	1.000	G	G	81571946	C	G	81571946	3	3	149	1	0	0	0	0	1	0	0	0	13642	680	24	4	21	4	RPS23	5	81571946	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	47957586	81571946	99343314	21	10955											
GPR98	84059	genome.wustl.edu	37	chr5	90136405	90136405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatttctaggagttgaggaGtgctgaaacaattggtcgta	12	4	1	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr5:90136405G>T	ENST00000405460.2	+	78	16718	c.16622G>T	c.(16621-16623)aGt>aTt	p.S5541I	GPR98_ENST00000425867.2_Missense_Mutation_p.S1202I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5541					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)			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)		GAGTTGAGGAGTGCTGAAACA	0.373																																																	0								ENSG00000164199						61	60	60					5																	90136405		1895	4114	6009	GPR98	SO:0001583	missense	0			-	HGNC	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.16622G>T	5.37:g.90136405G>T	ENSP00000384582:p.Ser5541Ile	Somatic	0	77	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S5541I	ENST00000405460.2	37	c.16622	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991715	0.18966	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29142	1.65;1.58	6.16	4.2	0.49525	.	0.414116	0.33438	N	0.004904	T	0.18045	0.0433	L	0.27053	0.805	0.24195	N	0.99554	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.09377	0.002;0.001;0.004	T	0.13415	-1.0510	9	.	.	.	.	6.4665	0.21985	0.0736:0.108:0.5988:0.2195	.	1202;5541;1202	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5541;5541;1202	ENSP00000384582:S5541I;ENSP00000392618:S1202I	.	S	+	2	0	GPR98	90172161	0.983000	0.35010	1.000000	0.80357	0.680000	0.39746	2.091000	0.41691	1.600000	0.50102	0.650000	0.86243	AGT	-	NULL		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		90136405	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	0.432	T	T	90136405	G	T	90136405	3	4	149	1	0	0	0	0	1	0	0	0	6723	1029	36	3	16932	3	GPR98	5	90136405	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	8564459	90136405	90778855	22	10956											
FAT2	2196	genome.wustl.edu	37	chr5	150922247	150922247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacttgaatgactgagGtccccactggcatattctca	8	12	2	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr5:150922247G>A	ENST00000261800.5	-	9	8453	c.8441C>T	c.(8440-8442)aCc>aTc	p.T2814I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2814	Cadherin 25. {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)			AATGACTGAGGTCCCCACTGG	0.512																																																	0								ENSG00000086570						119	109	113					5																	150922247		2203	4300	6503	FAT2	SO:0001583	missense	0			-	HGNC	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.8441C>T	5.37:g.150922247G>A	ENSP00000261800:p.Thr2814Ile	Somatic	0	38	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	O75091|Q9NSR7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T2814I	ENST00000261800.5	37	c.8441	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714020	0.48622	.	.	ENSG00000086570	ENST00000261800	T	0.58210	0.35	5.79	4.92	0.64577	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.79185	0.4403	M	0.93808	3.46	0.49687	D	0.999817	D	0.89917	1.0	D	0.97110	1.0	D	0.84932	0.0860	10	0.72032	D	0.01	.	14.591	0.68365	0.0699:0.0:0.9301:0.0	.	2814	Q9NYQ8	FAT2_HUMAN	I	2814	ENSP00000261800:T2814I	ENSP00000261800:T2814I	T	-	2	0	FAT2	150902440	1.000000	0.71417	0.120000	0.21714	0.948000	0.59901	5.646000	0.67916	1.451000	0.47736	0.462000	0.41574	ACC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	G	NM_001447	-		150922247	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	SNP	0.976	A	A	150922247	G	A	150922247	3	1	149	1	0	0	0	0	1	0	0	0	5692	1261	44	2	4668	2	FAT2	5	150922247	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	60785842	150922247	29993013	23	10957											
GLRA1	2741	genome.wustl.edu	37	chr5	151239459	151239459	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaacaggtcaggtttccaGatggagtccagcatggatgg	14	7	1	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr5:151239459G>A	ENST00000455880.2	-	4	649	c.363C>T	c.(361-363)atC>atT	p.I121I	GLRA1_ENST00000274576.4_Silent_p.I121I|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Silent_p.I38I			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	121					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)			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)	CAGGTTTCCAGATGGAGTCCA	0.537																																																	0								ENSG00000145888						167	159	161					5																	151239459		2203	4300	6503	GLRA1	SO:0001819	synonymous_variant	0			-	HGNC		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.363C>T	5.37:g.151239459G>A		Somatic	0	104	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	47	41.25	B2R6T3|Q14C77|Q6DJV9	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel	p.I121	ENST00000455880.2	37	c.363	CCDS54942.1	5																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.537	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	protein_coding	OTTHUMT00000373959.1	G		-		151239459	-1	no_errors	ENST00000455880	ensembl	human	known	74_37	silent	SNP	1.000	A	A	151239459	G	A	151239459	2	1	149	1	0	0	0	0	0	0	0	1	6456	932	33	2		2	GLRA1	5	151239459	Silent	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	317212	151239459	29675801	24	10958											
C6orf27	80737	genome.wustl.edu	37	chr6	31740760	31740761	+	Frame_Shift_Ins	INS	-	-	GGACAGGCTCCATG													aaaaggcaccaggacatagtINSggacaggctccatggggctg					rs201394026	byFrequency	TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr6:31740760_31740761insGGACAGGCTCCATG	ENST00000375688.4	-	7	1257_1258	c.1057_1058insCATGGAGCCTGTCC	c.(1057-1059)cacfs	p.H353fs	VWA7_ENST00000467576.1_De_novo_Start_OutOfFrame|VWA7_ENST00000447450.1_Frame_Shift_Ins_p.H353fs|VWA7_ENST00000375686.3_Frame_Shift_Ins_p.H353fs			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	353	VWFA.					extracellular region (GO:0005576)											CAGGACATAGTGGACAGGCTCC	0.584														67	0.0133786	0.003	0.0187	5008	,	,		19255	0.004		0.0288	False		,,,				2504	0.0174																0								ENSG00000204396			120,3338		5,110,1614						2	0		dbSNP_134	43	361,6395		24,313,3041	no	frameshift	C6orf27	NM_025258.2		29,423,4655	A1A1,A1R,RR		5.3434,3.4702,4.7092				481,9733				VWA7	SO:0001589	frameshift_variant	0				HGNC		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1044_1057dupCATGGAGCCTGTCC	6.37:g.31740760_31740761insGGACAGGCTCCATG	ENSP00000364840:p.His353fs	Somatic					0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Frame_Shift_Ins	INS							NULL	p.H353fs	ENST00000375688.4	37	c.1058_1057	CCDS4721.2	6																																																																																			-	NULL		0.584	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	protein_coding	OTTHUMT00000076233.2	-	NM_025258			31740761	-1	no_errors	ENST00000375686	ensembl	human	known	74_37	frame_shift_ins	INS	0.037:0.010	GGACAGGCTCCATG	GGACAGGCTCCATG	31740761	-	GGACAGGCTCCATG	31740760	7	5	149	1	0	1	1	0	0	0	0	0	2364	1696	59	0	1660	0	C6orf27	6	31740760	Frame_Shift_Ins	INS	-	TCGA-HS-A5N8-01A-11D-A26G-09		31740760	139374307	25	10959											
POT1	25913	genome.wustl.edu	37	chr7	124503553	124503553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacacgtaaggcttctaCcattttgtggtcctcagtag	8	11	2	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr7:124503553C>T	ENST00000357628.3	-	8	995	c.397G>A	c.(397-399)Gta>Ata	p.V133I	POT1_ENST00000393329.1_Missense_Mutation_p.V2I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	133					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAGGCTTCTACCATTTTGTGG	0.428																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0								ENSG00000128513						164	148	154					7																	124503553		2203	4299	6502	POT1	SO:0001583	missense	0			-	HGNC	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.397G>A	7.37:g.124503553C>T	ENSP00000350249:p.Val133Ile	Somatic	0	51	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP							pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.V133I	ENST00000357628.3	37	c.397	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538282	0.85917	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.58940	0.35;0.3	5.44	4.56	0.56223	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.61703	1.905	0.44181	D	0.996996	D	0.71674	0.998	D	0.79784	0.993	T	0.68819	-0.5308	10	0.35671	T	0.21	-6.7615	13.7146	0.62689	0.0:0.9244:0.0:0.0756	.	133	Q9NUX5	POTE1_HUMAN	I	133;2;133;133;133;132	ENSP00000350249:V133I;ENSP00000377002:V2I	ENSP00000265391:V132I	V	-	1	0	POT1	124290789	0.955000	0.32602	1.000000	0.80357	0.960000	0.62799	1.049000	0.30392	2.543000	0.85770	0.650000	0.86243	GTA	-	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13		0.428	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	protein_coding	OTTHUMT00000347861.1	C		-		124503553	-1	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124503553	C	T	124503553	3	4	149	1	0	0	0	0	1	0	0	0	12262	507	18	2	1555	2	POT1	7	124503553	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		124503553	34635110	26	10960											
NRF1	4899	genome.wustl.edu	37	chr7	129367102	129367102	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaagctgccgcccatgctgtCgccaccctggctgaggccac	12	17	0	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr7:129367102C>G	ENST00000393232.1	+	10	1362	c.1245C>G	c.(1243-1245)gtC>gtG	p.V415V	NRF1_ENST00000393231.3_Silent_p.V415V|NRF1_ENST00000393230.2_Silent_p.V415V|NRF1_ENST00000223190.4_Silent_p.V415V|NRF1_ENST00000539636.1_Silent_p.V254V|NRF1_ENST00000353868.4_Silent_p.V349V|NRF1_ENST00000311967.2_Silent_p.V415V	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	415	Required for transcriptional activation.				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						CCCATGCTGTCGCCACCCTGG	0.577																																																	0								ENSG00000106459						48	45	46					7																	129367102		2203	4300	6503	NRF1	SO:0001819	synonymous_variant	0			-	HGNC	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.1245C>G	7.37:g.129367102C>G		Somatic	0	76	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP							pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd	p.V415	ENST00000393232.1	37	c.1245	CCDS5813.2	7																																																																																			-	NULL		0.577	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	protein_coding	OTTHUMT00000289813.1	C	NM_001040110	-		129367102	1	no_errors	ENST00000393231	ensembl	human	known	74_37	silent	SNP	1.000	G	G	129367102	C	G	129367102	2	3	149	1	0	0	0	0	0	0	0	1	10648	871	31	4		4	NRF1	7	129367102	Silent	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	4863549	129367102	29771561	27	10961											
TEX15	56154	genome.wustl.edu	37	chr8	30701918	30701918	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatttcccccttcttctctCttttgttaagcggattagaa	5	10	3	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr8:30701918C>A	ENST00000256246.2	-	1	4690	c.4616G>T	c.(4615-4617)aGa>aTa	p.R1539I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1539					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCTTCTCTCTTTTGTTAAG	0.363																																																	0								ENSG00000133863						183	187	185					8																	30701918		2203	4300	6503	TEX15	SO:0001583	missense	0			-	HGNC	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4616G>T	8.37:g.30701918C>A	ENSP00000256246:p.Arg1539Ile	Somatic	0	84	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	22	61.40		Missense_Mutation	SNP							NULL	p.R1539I	ENST00000256246.2	37	c.4616	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987980	0.53934	.	.	ENSG00000133863	ENST00000256246	T	0.14391	2.51	5.77	-0.82	0.10826	.	0.204155	0.34507	N	0.003905	T	0.15262	0.0368	M	0.61703	1.905	0.09310	N	0.999995	P	0.37276	0.589	B	0.42422	0.387	T	0.11324	-1.0592	10	0.87932	D	0	.	5.9599	0.19293	0.0:0.4339:0.2553:0.3108	.	1539	Q9BXT5	TEX15_HUMAN	I	1539	ENSP00000256246:R1539I	ENSP00000256246:R1539I	R	-	2	0	TEX15	30821460	0.009000	0.17119	0.000000	0.03702	0.006000	0.05464	0.177000	0.16801	-0.087000	0.12528	-0.733000	0.03571	AGA	-	NULL		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	C		-		30701918	-1	no_errors	ENST00000256246	ensembl	human	known	74_37	missense	SNP	0.000	A	A	30701918	C	A	30701918	3	1	149	1	0	0	0	0	1	0	0	0	15786	913	32	3	3769	3	TEX15	8	30701918	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		30701918	115662104	28	10962											
GOT1L1	137362	genome.wustl.edu	37	chr8	37792593	37792593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccctagacccttacagTtgagtccaagatagccgtgg	10	13	0	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr8:37792593T>G	ENST00000307599.4	-	8	1169	c.1070A>C	c.(1069-1071)aAc>aCc	p.N357T	GOT1L1_ENST00000518826.1_Missense_Mutation_p.N98T	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	357					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACCCTTACAGTTGAGTCCAAG	0.537																																																	0								ENSG00000169154						61	65	64					8																	37792593		1887	4094	5981	GOT1L1	SO:0001583	missense	0			-	HGNC	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1070A>C	8.37:g.37792593T>G	ENSP00000303077:p.Asn357Thr	Somatic	0	75	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78	A8MWL4	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans	p.N357T	ENST00000307599.4	37	c.1070	CCDS47839.1	8	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434558	0.25813	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	T;T	0.21361	2.01;2.01	5.16	-3.26	0.05064	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.332930	0.25307	N	0.031604	T	0.07369	0.0186	N	0.13272	0.32	0.19775	N	0.999952	B	0.14438	0.01	B	0.17433	0.018	T	0.25293	-1.0136	10	0.16896	T	0.51	-0.1641	2.1566	0.03814	0.126:0.3413:0.2906:0.2421	.	357	Q8NHS2	AATC2_HUMAN	T	357;98	ENSP00000303077:N357T;ENSP00000429558:N98T	ENSP00000303077:N357T	N	-	2	0	GOT1L1	37911751	0.032000	0.19561	0.380000	0.26093	0.925000	0.55904	-0.456000	0.06754	-0.413000	0.07507	0.533000	0.62120	AAC	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans		0.537	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	protein_coding	OTTHUMT00000376823.1	T	NM_152413	-		37792593	-1	no_errors	ENST00000307599	ensembl	human	known	74_37	missense	SNP	0.021	G	G	37792593	T	G	37792593	3	3	149	1	0	0	0	0	1	0	0	0	6582	1725	60	5	203	5	GOT1L1	8	37792593	Missense_Mutation	SNP	T	TCGA-HS-A5N8-01A-11D-A26G-09	7090675	37792593	108571429	29	10963											
PSKH2	85481	genome.wustl.edu	37	chr8	87076845	87076845	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcctgtcccaataagAgctttgatgtcatatctgtt	7	9	2	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr8:87076845A>T	ENST00000276616.2	-	2	275	c.201T>A	c.(199-201)gcT>gcA	p.A67A	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	67	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCCCAATAAGAGCTTTGATGT	0.398																																																	0								ENSG00000147613						74	67	69					8																	87076845		2203	4300	6503	PSKH2	SO:0001819	synonymous_variant	0			-	HGNC	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.201T>A	8.37:g.87076845A>T		Somatic	0	22	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A0AV22	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A67	ENST00000276616.2	37	c.201	CCDS6240.1	8																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.398	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	protein_coding	OTTHUMT00000374628.1	A	NM_033126	-		87076845	-1	no_errors	ENST00000276616	ensembl	human	known	74_37	silent	SNP	1.000	T	T	87076845	A	T	87076845	2	4	149	1	0	0	0	0	0	0	0	1	12670	291	11	5		5	PSKH2	8	87076845	Silent	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09	49284252	87076845	59287177	30	10964											
CNGB3	54714	genome.wustl.edu	37	chr8	87616328	87616328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctttcagatacctgatttCtccaaacaccgacccagctt	4	14	3	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr8:87616328C>T	ENST00000320005.5	-	15	1821	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	592					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TACCTGATTTCTCCAAACACC	0.378																																																	0								ENSG00000170289						79	77	78					8																	87616328		2203	4300	6503	CNGB3	SO:0001583	missense	0			-	HGNC	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1774G>A	8.37:g.87616328C>T	ENSP00000316605:p.Glu592Lys	Somatic	0	45	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	C9JA51|Q9NRE9	Missense_Mutation	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E592K	ENST00000320005.5	37	c.1774	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.724161	0.96847	.	.	ENSG00000170289	ENST00000320005	D	0.98264	-4.83	5.97	5.97	0.96955	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98501	1.0614	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	592	Q9NQW8	CNGB3_HUMAN	K	592	ENSP00000316605:E592K	ENSP00000316605:E592K	E	-	1	0	CNGB3	87685444	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.625000	0.83145	2.837000	0.97791	0.655000	0.94253	GAA	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.378	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	protein_coding	OTTHUMT00000375107.1	C	NM_019098	-		87616328	-1	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	SNP	1.000	T	T	87616328	C	T	87616328	3	4	149	1	0	0	0	0	1	0	0	0	3603	922	32	2	671	2	CNGB3	8	87616328	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	539483	87616328	58747694	31	10965											
GRINA	2907	genome.wustl.edu	37	chr8	145065511	145065511	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctccctaccctggggcCccttacccacagcccccttt	6	22	0	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr8:145065511C>A	ENST00000313269.5	+	2	398	c.120C>A	c.(118-120)gcC>gcA	p.A40A	GRINA_ENST00000395068.4_Silent_p.A40A	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	40	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCTGGGGCCCCTTACCCAC	0.682																																																	0								ENSG00000178719						17	21	20					8																	145065511		2187	4288	6475	GRINA	SO:0001819	synonymous_variant	0			-	HGNC	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.120C>A	8.37:g.145065511C>A		Somatic	0	17	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	4	73.33	B3KXM7|O43836|Q8IVW7	Silent	SNP							pfam_Bax_inhibitor_1-related	p.A40	ENST00000313269.5	37	c.120	CCDS34961.1	8																																																																																			-	NULL		0.682	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GRINA	protein_coding	OTTHUMT00000384048.1	C	NM_001009184	-		145065511	1	no_errors	ENST00000313269	ensembl	human	known	74_37	silent	SNP	0.238	A	A	145065511	C	A	145065511	2	1	149	1	0	0	0	0	0	0	0	1	6787	610	22	3		3	GRINA	8	145065511	Silent	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	57449183	145065511	1298511	32	10966											
FRMPD1	22844	genome.wustl.edu	37	chr9	37731073	37731090	+	In_Frame_Del	DEL	CGTGGCCTTTGAATACCT	CGTGGCCTTTGAATACCT	-													gacctcctgaaagaagacccCgtggcctttgaatacctcta					rs550566906		TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	CGTGGCCTTTGAATACCT	CGTGGCCTTTGAATACCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr9:37731073_37731090delCGTGGCCTTTGAATACCT	ENST00000539465.1	+	9	1424_1441	c.831_848delCGTGGCCTTTGAATACCT	c.(829-849)cccgtggcctttgaatacctc>ccc	p.VAFEYL278del	FRMPD1_ENST00000541302.1_In_Frame_Del_p.VAFEYL147del|FRMPD1_ENST00000377765.3_In_Frame_Del_p.VAFEYL278del|FRMPD1_ENST00000536622.1_In_Frame_Del_p.VAFEYL100del|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	278	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGAAGACCCCGTGGCCTTTGAATACCTCTATCTGCAG	0.509																																																	0								ENSG00000070601																																			FRMPD1	SO:0001651	inframe_deletion	0				HGNC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.831_848delCGTGGCCTTTGAATACCT	9.37:g.37731073_37731090delCGTGGCCTTTGAATACCT	ENSP00000444411:p.Val278_Leu283del	Somatic					0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	In_Frame_Del	DEL							pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.VAFEYL278in_frame_del	ENST00000539465.1	37	c.831_848	CCDS6612.1	9																																																																																			-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.509	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	protein_coding	OTTHUMT00000402969.1	CGTGGCCTTTGAATACCT	NM_014907			37731090	1	no_errors	ENST00000377765	ensembl	human	known	74_37	in_frame_del	DEL	0.017:0.990:0.998:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.985:1.000:1.000:0.998:1.000:1.000	-	-	37731090	CGTGGCCTTTGAATACCT	-	37731073	7	5	149	1	0	1	0	1	0	0	0	0	6059	639	23	0	861	0	FRMPD1	9	37731073	In_Frame_Del	DEL	CGTGGCCTTTGAATACCT	TCGA-HS-A5N8-01A-11D-A26G-09		37731073	103482358	33	10967											
HDHD3	81932	genome.wustl.edu	37	chr9	116136322	116136322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcaggggtggctgaAgtctttataaagctgttcag	14	7	2	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr9:116136322A>C	ENST00000238379.5	-	2	1210	c.313T>G	c.(313-315)Ttc>Gtc	p.F105V	HDHD3_ENST00000374180.3_Missense_Mutation_p.F105V|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	105						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GGGTGGCTGAAGTCTTTATAA	0.607																																																	0								ENSG00000119431						77	86	83					9																	116136322		2203	4300	6503	HDHD3	SO:0001583	missense	0			-	HGNC	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.313T>G	9.37:g.116136322A>C	ENSP00000238379:p.Phe105Val	Somatic	0	28	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	B2RD47	Missense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA	p.F105V	ENST00000238379.5	37	c.313	CCDS6793.1	9	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393169	0.83011	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.06142	3.34;3.34	5.76	5.76	0.90799	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.207015	0.51477	D	0.000086	T	0.27313	0.0670	M	0.91972	3.26	0.80722	D	1	D	0.56521	0.976	P	0.55508	0.777	T	0.16837	-1.0389	10	0.72032	D	0.01	-5.48	15.2448	0.73499	1.0:0.0:0.0:0.0	.	105	Q9BSH5	HDHD3_HUMAN	V	105	ENSP00000238379:F105V;ENSP00000363295:F105V	ENSP00000238379:F105V	F	-	1	0	HDHD3	115176143	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	8.286000	0.89916	2.197000	0.70478	0.533000	0.62120	TTC	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like		0.607	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD3	protein_coding	OTTHUMT00000053731.1	A	NM_031219	-		116136322	-1	no_errors	ENST00000238379	ensembl	human	known	74_37	missense	SNP	1.000	C	C	116136322	A	C	116136322	3	2	149	1	0	0	0	0	1	0	0	0	7026	72	3	5	446	5	HDHD3	9	116136322	Missense_Mutation	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09	78405249	116136322	25077109	34	10968											
BAT2L1	84726	genome.wustl.edu	37	chr9	134351084	134351084	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctctgaggaccacagcGgtctagatgccaagagccga	14	11	2	3	rs200684547		TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr9:134351084G>C	ENST00000357304.4	+	15	3623	c.3568G>C	c.(3568-3570)Ggt>Cgt	p.G1190R	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1190							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGACCACAGCGGTCTAGATGC	0.612																																																	0								ENSG00000130723						21	23	22					9																	134351084		1949	4157	6106	PRRC2B	SO:0001583	missense	0			-	HGNC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3568G>C	9.37:g.134351084G>C	ENSP00000349856:p.Gly1190Arg	Somatic	0	47	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	8.89	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP							pfam_BAT2_N	p.G1190R	ENST00000357304.4	37	c.3568	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	7.262	0.605296	0.14002	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.27256	1.68	5.54	1.01	0.19927	.	.	.	.	.	T	0.22666	0.0547	L	0.36672	1.1	0.09310	N	0.99999	P;B	0.47545	0.897;0.389	P;B	0.47162	0.54;0.121	T	0.11227	-1.0596	8	.	.	.	.	6.8133	0.23817	0.5832:0.0:0.4168:0.0	.	486;1190	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	R	1190;486	ENSP00000349856:G1190R	.	G	+	1	0	PRRC2B	133340905	0.080000	0.21391	0.000000	0.03702	0.481000	0.33189	0.796000	0.26986	0.285000	0.22329	0.462000	0.41574	GGT	-	NULL		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		G		-		134351084	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	SNP	0.000	C	C	134351084	G	C	134351084	3	2	149	1	0	0	0	0	1	0	0	0	1320	1116	39	4	3626	4	BAT2L1	9	134351084	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	18214762	134351084	6862347	35	10969											
NLRP14	338323	genome.wustl.edu	37	chr11	7059832	7059832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaagatggcagattcatcAtcatcttctttctttcctga	6	10	6	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr11:7059832A>G	ENST00000299481.4	+	2	361	c.15A>G	c.(13-15)tcA>tcG	p.S5S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	5	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGATTCATCATCATCTTCTT	0.373																																																	0								ENSG00000158077						85	93	90					11																	7059832		2201	4296	6497	NLRP14	SO:0001819	synonymous_variant	0			-	HGNC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.15A>G	11.37:g.7059832A>G		Somatic	0	56	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	Q7RTR6	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S5	ENST00000299481.4	37	c.15	CCDS7776.1	11																																																																																			-	pfscan_DAPIN		0.373	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	protein_coding	OTTHUMT00000384551.1	A	NM_176822	-		7059832	1	no_errors	ENST00000299481	ensembl	human	known	74_37	silent	SNP	0.010	G	G	7059832	A	G	7059832	2	3	149	1	0	0	0	0	0	0	0	1	10478	204	8	5		5	NLRP14	11	7059832	Silent	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09		7059832	127946684	36	10970											
TUB	7275	genome.wustl.edu	37	chr11	8122074	8122074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacgtcttaggcttcaagGggcctcggaagatgagcgtg	14	9	2	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr11:8122074G>A	ENST00000299506.2	+	10	1290	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R	TUB_ENST00000305253.4_Missense_Mutation_p.G436R|TUB_ENST00000534099.1_Missense_Mutation_p.G387R	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	381					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGCTTCAAGGGGCCTCGGAA	0.557																																																	0								ENSG00000166402						147	126	133					11																	8122074		2201	4296	6497	TUB	SO:0001583	missense	0			-	HGNC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1141G>A	11.37:g.8122074G>A	ENSP00000299506:p.Gly381Arg	Somatic	0	45	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	5	81.48	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP							pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.G436R	ENST00000299506.2	37	c.1306	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.089033	0.94100	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.93953	-3.32;-3.32;-3.32	4.59	4.59	0.56863	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.90759	3.145	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	0.98137	1.0434	10	0.66056	D	0.02	-1.0263	17.7363	0.88394	0.0:0.0:1.0:0.0	.	387;381;436	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	R	387;436;381	ENSP00000434400:G387R;ENSP00000305426:G436R;ENSP00000299506:G381R	ENSP00000299506:G381R	G	+	1	0	TUB	8078650	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.277000	0.76020	0.563000	0.77884	GGG	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C		0.557	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	protein_coding	OTTHUMT00000385823.1	G	NM_003320	-		8122074	1	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8122074	G	A	8122074	3	1	149	1	0	0	0	0	1	0	0	0	16749	1232	43	2	1390	2	TUB	11	8122074	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	1062242	8122074	126884442	37	10971											
OR10AG1	282770	genome.wustl.edu	37	chr11	55735654	55735654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccgtgcctccaagcataaGaaaaaaacacatttgtgtag	7	10	0	1	rs548057957	byFrequency	TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr11:55735654G>A	ENST00000312345.2	-	1	336	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CCAAGCATAAGAAAAAAACAC	0.413																																																	0								ENSG00000174970						82	84	83					11																	55735654		2201	4296	6497	OR10AG1	SO:0001583	missense	0			-	HGNC	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.286C>T	11.37:g.55735654G>A	ENSP00000311477:p.Leu96Phe	Somatic	0	39	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	9	79.07	B2RNH4|Q6IEU3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L96F	ENST00000312345.2	37	c.286	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	G	4.910	0.169062	0.09339	.	.	ENSG00000174970	ENST00000312345	T	0.00840	5.63	5.47	-0.0419	0.13865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000293	T	0.01029	0.0034	L	0.53780	1.695	0.09310	N	1	B	0.23937	0.094	B	0.24394	0.053	T	0.45644	-0.9247	10	0.39692	T	0.17	.	4.5906	0.12304	0.3258:0.2855:0.3886:0.0	.	96	Q8NH19	O10AG_HUMAN	F	96	ENSP00000311477:L96F	ENSP00000311477:L96F	L	-	1	0	OR10AG1	55492230	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.894000	0.04123	0.034000	0.15491	0.477000	0.44152	CTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	protein_coding	OTTHUMT00000391531.1	G	NM_001005491	-		55735654	-1	no_errors	ENST00000312345	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55735654	G	A	55735654	3	1	149	1	0	0	0	0	1	0	0	0	10899	942	33	2	622	2	OR10AG1	11	55735654	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	47613580	55735654	79270862	38	10972											
AMICA1	120425	genome.wustl.edu	37	chr11	118074177	118074215	+	In_Frame_Del	DEL	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	-													gggctgacatgcagcacaatGgttttcttgaacaccaggtt							TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr11:118074177_118074215delGGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	ENST00000356289.5	-	6	873_911	c.700_738delTGCAGTATCCACCTAGGGAACCTGGTGTTCAAGAAAACC	c.(700-738)tgcagtatccacctagggaacctggtgttcaagaaaaccdel	p.CSIHLGNLVFKKT234del	AMICA1_ENST00000292067.7_In_Frame_Del_p.CSIHLGNLVFKKT224del|AMICA1_ENST00000533261.1_In_Frame_Del_p.CSIHLGNLVFKKT223del|AMICA1_ENST00000526620.1_In_Frame_Del_p.CSIHLGNLVFKKT195del	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	234	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCAGCACAATGGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCAGGTGTAGTTT	0.536																																																	0								ENSG00000160593																																			AMICA1	SO:0001651	inframe_deletion	0				HGNC	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.700_738delTGCAGTATCCACCTAGGGAACCTGGTGTTCAAGAAAACC	11.37:g.118074177_118074215delGGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	ENSP00000348635:p.Cys234_Thr246del	Somatic					0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	In_Frame_Del	DEL							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.CSIHLGNLVFKKT234in_frame_del	ENST00000356289.5	37	c.738_700	CCDS41723.1	11																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.536	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	protein_coding	OTTHUMT00000392105.2	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	NM_153206			118074215	-1	no_errors	ENST00000356289	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.148:0.213:0.220:0.822:0.850:0.832:0.031:0.020:0.002:0.004:0.002:0.001:0.001:0.005:0.020:0.027:0.031:0.031:0.002:0.006:0.043:0.668:0.911:0.949:0.949:0.940:0.912:0.827:0.679:0.696:0.675:0.234:0.055:0.059:0.084:0.850:1.000:1.000	-	-	118074215	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	-	118074177	7	5	149	1	0	1	0	1	0	0	0	0	574	1335	47	0	466	0	AMICA1	11	118074177	In_Frame_Del	DEL	GGTTTTCTTGAACACCAGGTTCCCTAGGTGGATACTGCA	TCGA-HS-A5N8-01A-11D-A26G-09	62338523	118074177	16932339	39	10973											
ROBO4	54538	genome.wustl.edu	37	chr11	124766916	124766916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaggtctgtggacagGgcctggccatcgtgggcatg	15	12	1	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr11:124766916G>A	ENST00000306534.3	-	2	797	c.312C>T	c.(310-312)gcC>gcT	p.A104A	ROBO4_ENST00000533054.1_5'UTR|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	104	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGTGGACAGGGCCTGGCCAT	0.672																																																	0								ENSG00000154133						43	44	44					11																	124766916		2201	4299	6500	ROBO4	SO:0001819	synonymous_variant	0			-	HGNC	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.312C>T	11.37:g.124766916G>A		Somatic	0	76	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	42	43.24	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A104	ENST00000306534.3	37	c.312	CCDS8455.1	11																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.672	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	protein_coding	OTTHUMT00000387111.1	G	NM_019055	-		124766916	-1	no_errors	ENST00000306534	ensembl	human	known	74_37	silent	SNP	0.376	A	A	124766916	G	A	124766916	2	1	149	1	0	0	0	0	0	0	0	1	13524	1219	43	2		2	ROBO4	11	124766916	Silent	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	6692739	124766916	10239600	40	10974											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21370181	21370181	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttttgttgcaatacaagtCttgaatttatttttctctgc	5	6	2	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr12:21370181C>G	ENST00000256958.2	+	12	1722	c.1626C>G	c.(1624-1626)gtC>gtG	p.V542V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	542					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CAATACAAGTCTTGAATTTAT	0.353																																																	0								ENSG00000134538						129	132	131					12																	21370181		2203	4300	6503	SLCO1B1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1626C>G	12.37:g.21370181C>G		Somatic	0	47	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V542	ENST00000256958.2	37	c.1626	CCDS8685.1	12																																																																																			-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.353	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	C	NM_006446	-		21370181	1	no_errors	ENST00000256958	ensembl	human	known	74_37	silent	SNP	0.001	G	G	21370181	C	G	21370181	2	3	149	1	0	0	0	0	0	0	0	1	14731	900	32	4		4	SLCO1B1	12	21370181	Silent	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		21370181	112481714	41	10975											
LYRM5	144363	genome.wustl.edu	37	chr12	25357129	25357129	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgaagaatccagagaagatCaaagaacttattgcacaggg	11	6	1	5			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr12:25357129C>G	ENST00000381356.4	+	3	315	c.156C>G	c.(154-156)atC>atG	p.I52M	LYRM5_ENST00000556885.1_Missense_Mutation_p.I50M|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556927.1_Missense_Mutation_p.I50M|LYRM5_ENST00000556351.1_Missense_Mutation_p.I50M|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000557540.2_Missense_Mutation_p.I50M	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	52						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)			CAGAGAAGATCAAAGAACTTA	0.348																																																	0								ENSG00000205707						46	44	45					12																	25357129		1826	4074	5900	LYRM5	SO:0001583	missense	0			-	HGNC	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.156C>G	12.37:g.25357129C>G	ENSP00000370761:p.Ile52Met	Somatic	0	34	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	J3KPI7	Missense_Mutation	SNP							pfam_Complex1_LYR	p.I52M	ENST00000381356.4	37	c.156	CCDS53764.1	12	.	.	.	.	.	.	.	.	.	.	C	17.72	3.457955	0.63401	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	.	.	.	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	D	0.86539	0.1827	9	0.56958	D	0.05	.	9.2003	0.37254	0.1484:0.7732:0.0:0.0783	.	50	Q6IPR1	LYRM5_HUMAN	M	50;52;50;50;50	ENSP00000450584:I50M;ENSP00000370761:I52M;ENSP00000451494:I50M;ENSP00000452146:I50M;ENSP00000450443:I50M	ENSP00000370761:I52M	I	+	3	3	LYRM5	25248396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.325000	0.43840	1.531000	0.49152	-0.182000	0.12963	ATC	-	pfam_Complex1_LYR		0.348	LYRM5-201	KNOWN	basic|CCDS	protein_coding	LYRM5	protein_coding		C	NM_001001660	-		25357129	1	no_errors	ENST00000381356	ensembl	human	known	74_37	missense	SNP	1.000	G	G	25357129	C	G	25357129	3	3	149	1	0	0	0	0	1	0	0	0	9124	816	29	4	162	4	LYRM5	12	25357129	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	3986948	25357129	108494766	42	10976											
MBD6	114785	genome.wustl.edu	37	chr12	57922286	57922286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cataatggggagctggctgaAgggggtgctgagcccaagga	18	7	0	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr12:57922286A>T	ENST00000355673.3	+	10	3119	c.2763A>T	c.(2761-2763)gaA>gaT	p.E921D	MBD6_ENST00000431731.2_Missense_Mutation_p.E921D	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	921						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTGGCTGAAGGGGGTGCTG	0.597																																																	0								ENSG00000166987						47	58	54					12																	57922286		2200	4299	6499	MBD6	SO:0001583	missense	0			-	HGNC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2763A>T	12.37:g.57922286A>T	ENSP00000347896:p.Glu921Asp	Somatic	0	53	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP							superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.E921D	ENST00000355673.3	37	c.2763	CCDS8944.1	12	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	a|a|a	15.77|15.77|15.77	2.932690|2.932690|2.932690	0.52866|0.52866|0.52866	.|.|.	.|.|.	ENSG00000166987|ENSG00000166987|ENSG00000166987	ENST00000355673;ENST00000431731|ENST00000300263|ENST00000552163	.|.|.	.|.|.	.|.|.	5.04|5.04|5.04	5.04|5.04|5.04	0.67666|0.67666|0.67666	.|.|.	0.114259|.|.	0.38058|.|.	N|.|.	0.001827|.|.	T|T|T	0.30978|0.30978|0.30978	0.0782|0.0782|0.0782	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.35026|0.35026|0.35026	D|D|D	0.758278|0.758278|0.758278	D;D|.|.	0.56035|.|.	0.974;0.974|.|.	D;D|.|.	0.67725|.|.	0.953;0.953|.|.	T|T|T	0.42378|0.42378|0.42378	-0.9455|-0.9455|-0.9455	9|6|5	0.66056|0.87932|.	D|D|.	0.02|0|.	-4.3224|-4.3224|-4.3224	11.3887|11.3887|11.3887	0.49800|0.49800|0.49800	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	921;921|.|.	Q6P0P0;Q96DN6|.|.	.;MBD6_HUMAN|.|.	D|M|W	921|384|156	.|.|.	ENSP00000347896:E921D|ENSP00000300263:K384M|.	E|K|R	+|+|+	3|2|1	2|0|2	MBD6|MBD6|MBD6	56208553|56208553|56208553	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.568000|2.568000|2.568000	0.45965|0.45965|0.45965	2.267000|2.267000|2.267000	0.75376|0.75376|0.75376	0.524000|0.524000|0.524000	0.50904|0.50904|0.50904	GAA|AAG|AGG	-	NULL		0.597	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	protein_coding	OTTHUMT00000407250.1	A		-		57922286	1	no_errors	ENST00000355673	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57922286	A	T	57922286	3	4	149	1	0	0	0	0	1	0	0	0	9350	69	3	5	2793	5	MBD6	12	57922286	Missense_Mutation	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09	32565157	57922286	75929609	43	10977											
COPS2	9318	genome.wustl.edu	37	chr15	49431771	49431771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatagaattaatggattttTcagaataatttcttgtgact	7	3	2	3			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr15:49431771T>G	ENST00000388901.5	-	4	399	c.326A>C	c.(325-327)gAa>gCa	p.E109A	COPS2_ENST00000542928.1_Missense_Mutation_p.E45A|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.E109A	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	109					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)		AATGGATTTTTCAGAATAATT	0.313																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												0								ENSG00000166200						63	68	66					15																	49431771		2196	4289	6485	COPS2	SO:0001583	missense	0			-	HGNC	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.326A>C	15.37:g.49431771T>G	ENSP00000373553:p.Glu109Ala	Somatic	0	53	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP							pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.E109A	ENST00000388901.5	37	c.326	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889006	0.91814	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	H	0.94847	3.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70016	0.967;0.967;0.967	D	0.85814	0.1381	9	0.16896	T	0.51	-14.8722	15.5924	0.76543	0.0:0.0:0.0:1.0	.	45;110;109	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	A	109;109;45	.	ENSP00000299259:E109A	E	-	2	0	COPS2	47219063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.084000	0.62774	0.533000	0.62120	GAA	-	NULL		0.313	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	protein_coding	OTTHUMT00000417840.1	T	NM_004236	-		49431771	-1	no_errors	ENST00000299259	ensembl	human	known	74_37	missense	SNP	1.000	G	G	49431771	T	G	49431771	3	3	149	1	0	0	0	0	1	0	0	0	3735	1783	62	5	1066	5	COPS2	15	49431771	Missense_Mutation	SNP	T	TCGA-HS-A5N8-01A-11D-A26G-09		49431771	53099621	44	10978											
CLEC18C	283971	genome.wustl.edu	37	chr16	70211379	70211379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacctgcacccactacaCgcaggtgagtgtgctgcagg	12	15	0	1	rs150702800	byFrequency	TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr16:70211379C>T	ENST00000569347.2	+	3	706	c.452C>T	c.(451-453)aCg>aTg	p.T151M	CLEC18C_ENST00000536907.2_Missense_Mutation_p.T151M|CLEC18C_ENST00000541793.2_Missense_Mutation_p.T151M|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000314151.8_Missense_Mutation_p.T151M	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	151	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						ACCCACTACACGCAGGTGAGT	0.582													c|||	20	0.00399361	0	0.0072	5008	,	,		17630	0		0.0139	False		,,,				2504	0.001																0								ENSG00000157335						12	11	11					16																	70211379		2080	4022	6102	CLEC18C	SO:0001583	missense	0			-	HGNC	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"C-type lectin domain containing"	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.452C>T	16.37:g.70211379C>T	ENSP00000455920:p.Thr151Met	Somatic	0	44	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q8IUW8	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin	p.T151M	ENST00000569347.2	37	c.452	CCDS32473.1	16	.	.	.	.	.	.	.	.	.	.	c	15.27	2.783528	0.49891	.	.	ENSG00000157335	ENST00000541793;ENST00000314151;ENST00000433156;ENST00000539438;ENST00000536907	T;T;T	0.16073	2.37;2.37;2.37	4.32	4.32	0.51571	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	H	0.96080	3.765	0.49687	D	0.999819	D	0.71674	0.998	P	0.59643	0.861	T	0.65738	-0.6095	10	0.66056	D	0.02	.	12.6961	0.57005	0.0:1.0:0.0:0.0	.	151	Q8NCF0	CL18C_HUMAN	M	151;151;151;147;151	ENSP00000444875:T151M;ENSP00000326538:T151M;ENSP00000444726:T151M	ENSP00000326538:T151M	T	+	2	0	CLEC18C	68768880	0.998000	0.40836	0.993000	0.49108	0.104000	0.19210	4.129000	0.57957	2.125000	0.65367	0.298000	0.19748	ACG	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1		0.582	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18C	protein_coding	OTTHUMT00000434588.2	C	NM_173619	rs150702800		70211379	1	no_errors	ENST00000314151	ensembl	human	known	74_37	missense	SNP	0.997	T	T	70211379	C	T	70211379	3	4	149	1	0	0	0	0	1	0	0	0	3506	536	19	1	462	1	CLEC18C	16	70211379	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		70211379	20143374	45	10979											
FBXW10	10517	genome.wustl.edu	37	chr17	18653145	18653145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaatctattggttgacCtggatgacatcagagacctg	10	10	2	3	rs200535885	byFrequency	TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr17:18653145C>G	ENST00000395665.4	+	3	1002	c.781C>G	c.(781-783)Ctg>Gtg	p.L261V	FBXW10_ENST00000395667.1_Missense_Mutation_p.L261V|FBXW10_ENST00000301938.4_Missense_Mutation_p.L261V|FBXW10_ENST00000308799.4_Missense_Mutation_p.L261V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	261										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ATTGGTTGACCTGGATGACAT	0.473																																																	0								ENSG00000171931						129	103	112					17																	18653145		2203	4297	6500	FBXW10	SO:0001583	missense	0			-	HGNC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.781C>G	17.37:g.18653145C>G	ENSP00000379025:p.Leu261Val	Somatic	0	80	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L261V	ENST00000395665.4	37	c.781	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050026	0.19827	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	2.48	-1.27	0.09347	.	0.000000	0.28908	U	0.013760	T	0.23649	0.0572	M	0.65975	2.015	0.09310	N	1	B;B;B;B	0.19583	0.037;0.037;0.022;0.016	B;B;B;B	0.19148	0.024;0.024;0.011;0.024	T	0.15780	-1.0425	10	0.31617	T	0.26	.	3.914	0.09214	0.0:0.3418:0.3911:0.2671	.	261;261;261;261	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	V	261	ENSP00000379026:L261V;ENSP00000310382:L261V;ENSP00000306937:L261V;ENSP00000379025:L261V	ENSP00000306937:L261V	L	+	1	2	FBXW10	18593870	0.154000	0.22792	0.008000	0.14137	0.738000	0.42128	0.251000	0.18257	-0.391000	0.07763	-0.507000	0.04495	CTG	-	NULL		0.473	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	protein_coding	OTTHUMT00000313531.2	C	NM_031456	rs200535885		18653145	1	no_errors	ENST00000308799	ensembl	human	known	74_37	missense	SNP	0.004	G	G	18653145	C	G	18653145	3	3	149	1	0	0	0	0	1	0	0	0	5765	680	24	4	791	4	FBXW10	17	18653145	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		18653145	62542065	46	10980											
CYTSB	92521	genome.wustl.edu	37	chr17	20150563	20150563	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaatatttctgtccataaGacccccagaagtcccctaag	6	13	1	3	rs371735963		TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr17:20150563G>C	ENST00000261503.5	+	9	2580	c.2529G>C	c.(2527-2529)aaG>aaC	p.K843N	SPECC1_ENST00000395530.2_Missense_Mutation_p.K762N|SPECC1_ENST00000395527.4_Missense_Mutation_p.K843N|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.K183N	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	843					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CTGTCCATAAGACCCCCAGAA	0.453																																																	0								ENSG00000128487						50	52	52					17																	20150563		2203	4300	6503	SPECC1	SO:0001583	missense	0			-	HGNC	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2529G>C	17.37:g.20150563G>C	ENSP00000261503:p.Lys843Asn	Somatic	0	36	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP							pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K843N	ENST00000261503.5	37	c.2529	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375274	0.24857	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.52526	0.66;0.66	4.28	2.28	0.28536	.	0.107613	0.64402	D	0.000008	T	0.50582	0.1624	L	0.57536	1.79	0.31509	N	0.663808	P;D;P	0.56968	0.67;0.978;0.791	B;P;B	0.56514	0.299;0.8;0.392	T	0.53500	-0.8430	10	0.23891	T	0.37	-37.5504	6.5702	0.22535	0.2202:0.0:0.7798:0.0	.	843;762;843	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	N	843;843;183;762	ENSP00000261503:K843N;ENSP00000438294:K183N	ENSP00000261503:K843N	K	+	3	2	SPECC1	20091155	0.981000	0.34729	0.895000	0.35142	0.992000	0.81027	1.900000	0.39828	0.563000	0.29222	0.586000	0.80456	AAG	-	NULL		0.453	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	protein_coding	OTTHUMT00000441206.1	G	NM_152904	-		20150563	1	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	SNP	0.976	C	C	20150563	G	C	20150563	3	2	149	1	0	0	0	0	1	0	0	0	4212	933	33	4	2629	4	CYTSB	17	20150563	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	1497418	20150563	61044647	47	10981											
CDK12	51755	genome.wustl.edu	37	chr17	37672033	37672033	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcctatttttcaagccaatCtggaactggctcagctagaa	8	10	3	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr17:37672033C>G	ENST00000447079.4	+	9	2851	c.2818C>G	c.(2818-2820)Ctg>Gtg	p.L940V	CDK12_ENST00000430627.2_Missense_Mutation_p.L940V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	940	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCAAGCCAATCTGGAACTGGC	0.408			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0								ENSG00000167258						115	108	110					17																	37672033		2203	4300	6503	CDK12	SO:0001583	missense	0			-	HGNC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2818C>G	17.37:g.37672033C>G	ENSP00000398880:p.Leu940Val	Somatic	0	46	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L940V	ENST00000447079.4	37	c.2818	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379522	0.42207	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42513	0.97;0.97	6.03	1.88	0.25563	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	0.35378	N	0.003260	T	0.34106	0.0886	N	0.19112	0.55	0.33718	D	0.616679	D;D;D	0.57571	0.98;0.98;0.976	P;P;P	0.52554	0.573;0.702;0.576	T	0.42085	-0.9472	10	0.27082	T	0.32	-5.1735	9.6962	0.40158	0.0:0.7232:0.0:0.2768	.	939;940;940	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	V	940	ENSP00000407720:L940V;ENSP00000398880:L940V	ENSP00000407720:L940V	L	+	1	2	CDK12	34925559	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.309000	0.51903	0.141000	0.18875	0.655000	0.94253	CTG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.408	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	protein_coding	OTTHUMT00000256941.4	C	NM_016507	-		37672033	1	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	SNP	1.000	G	G	37672033	C	G	37672033	3	3	149	1	0	0	0	0	1	0	0	0	3130	912	32	4	2852	4	CDK12	17	37672033	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	17521470	37672033	43523177	48	10982											
KRT14	3861	genome.wustl.edu	37	chr17	39742691	39742691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctccagagcacgcacCttgtccaggtaggaggccag	12	15	0	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr17:39742691C>A	ENST00000167586.6	-	1	482	c.396G>T	c.(394-396)aaG>aaT	p.K132N		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	132	Coil 1A.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GAGCACGCACCTTGTCCAGGT	0.587																																																	0								ENSG00000186847						135	142	139					17																	39742691		2203	4296	6499	KRT14	SO:0001583	missense	0			-	HGNC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.396G>T	17.37:g.39742691C>A	ENSP00000167586:p.Lys132Asn	Somatic	0	199	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	49	57.02	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K132N	ENST00000167586.6	37	c.396	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630373	0.67015	.	.	ENSG00000186847	ENST00000167586	D	0.93953	-3.32	5.11	4.13	0.48395	Filament (1);	0.000000	0.56097	D	0.000026	D	0.97247	0.9100	H	0.95328	3.655	0.53005	D	0.999969	D	0.71674	0.998	D	0.76071	0.987	D	0.97047	0.9761	10	0.62326	D	0.03	.	9.8221	0.40889	0.1404:0.7867:0.0:0.0729	.	132	P02533	K1C14_HUMAN	N	132	ENSP00000167586:K132N	ENSP00000167586:K132N	K	-	3	2	KRT14	36996217	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.724000	0.47285	1.277000	0.44412	0.549000	0.68633	AAG	-	pfam_IF		0.587	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	C	NM_000526	-		39742691	-1	no_errors	ENST00000167586	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39742691	C	A	39742691	3	1	149	1	0	0	0	0	1	0	0	0	8453	680	24	3	1054	3	KRT14	17	39742691	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	2070658	39742691	41452519	49	10983											
ANKRD40	91369	genome.wustl.edu	37	chr17	48773462	48773462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttatcatcagaaccaGttccagctcctggaaatctt	5	12	4	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr17:48773462G>A	ENST00000285243.6	-	5	1272	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	RP11-294J22.6_ENST00000574246.1_RNA|Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	335										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			ATCAGAACCAGTTCCAGCTCC	0.393																																																	0								ENSG00000154945						112	107	109					17																	48773462		2203	4300	6503	ANKRD40	SO:0001819	synonymous_variant	0			-	HGNC	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.1003C>T	17.37:g.48773462G>A		Somatic	0	68	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	56	23.29	Q96E32	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L335	ENST00000285243.6	37	c.1003	CCDS11572.1	17																																																																																			-	NULL		0.393	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	protein_coding	OTTHUMT00000368201.2	G	NM_052855	-		48773462	-1	no_errors	ENST00000285243	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48773462	G	A	48773462	2	1	149	1	0	0	0	0	0	0	0	1	669	1020	36	2		2	ANKRD40	17	48773462	Silent	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09	9030771	48773462	32421748	50	10984											
ZNF526	116115	genome.wustl.edu	37	chr19	42730215	42730215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggttgcacttgcggccaGtcgcctttgcccgcgccccc	13	18	0	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr19:42730215G>A	ENST00000301215.3	+	3	1885	c.1660G>A	c.(1660-1662)Gtc>Atc	p.V554I		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTTGCGGCCAGTCGCCTTTGC	0.652																																																	0								ENSG00000167625						43	42	42					19																	42730215		2203	4300	6503	ZNF526	SO:0001583	missense	0			-	HGNC	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1660G>A	19.37:g.42730215G>A	ENSP00000301215:p.Val554Ile	Somatic	0	66	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V554I	ENST00000301215.3	37	c.1660	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368962	0.24771	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.08984	3.03	4.76	1.28	0.21552	.	0.334622	0.22438	N	0.060047	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	P	0.35328	0.495	B	0.25987	0.065	T	0.43940	-0.9360	10	0.35671	T	0.21	-22.2782	7.6853	0.28536	0.0766:0.0:0.5099:0.4135	.	554	Q8TF50	ZN526_HUMAN	I	410;554	ENSP00000301215:V554I	ENSP00000301215:V554I	V	+	1	0	ZNF526	47422055	0.989000	0.36119	0.005000	0.12908	0.683000	0.39861	2.962000	0.49176	0.283000	0.22279	0.561000	0.74099	GTC	-	NULL		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	protein_coding	OTTHUMT00000463681.2	G	XM_057401	-		42730215	1	no_errors	ENST00000301215	ensembl	human	known	74_37	missense	SNP	0.002	A	A	42730215	G	A	42730215	3	1	149	1	0	0	0	0	1	0	0	0	17974	1029	36	2	1662	2	ZNF526	19	42730215	Missense_Mutation	SNP	G	TCGA-HS-A5N8-01A-11D-A26G-09		42730215	16398768	51	10985											
CEACAM16	388551	genome.wustl.edu	37	chr19	45208935	45208935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaagttgacttcaacaCgtccctcaccctgtggtgcg	8	14	3	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr19:45208935C>T	ENST00000405314.2	+	4	834	c.737C>T	c.(736-738)aCg>aTg	p.T246M	CEACAM16_ENST00000587331.1_Missense_Mutation_p.T246M|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	246	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GACTTCAACACGTCCCTCACC	0.602																																																	0								ENSG00000213892						71	78	76					19																	45208935		2108	4233	6341	CEACAM16	SO:0001583	missense	0			-	HGNC		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.737C>T	19.37:g.45208935C>T	ENSP00000385576:p.Thr246Met	Somatic	0	93	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	A7LI12	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T246M	ENST00000405314.2	37	c.737	CCDS54278.1	19	.	.	.	.	.	.	.	.	.	.	c	10.60	1.396252	0.25205	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.44083	0.93	5.24	0.319	0.15873	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.520885	0.14290	N	0.328954	T	0.24928	0.0605	L	0.41492	1.28	0.09310	N	1	P	0.34934	0.476	B	0.19946	0.027	T	0.07966	-1.0745	10	0.44086	T	0.13	-1.2085	5.8236	0.18540	0.0:0.5321:0.2973:0.1705	.	305	Q2WEN9	CEA16_HUMAN	M	311;246	ENSP00000385576:T246M	ENSP00000379974:T311M	T	+	2	0	CEACAM16	49900775	0.001000	0.12720	0.117000	0.21633	0.965000	0.64279	0.302000	0.19192	-0.067000	0.12976	-0.215000	0.12644	ACG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.602	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	protein_coding		C	XM_371177	-		45208935	1	no_errors	ENST00000405314	ensembl	human	known	74_37	missense	SNP	0.026	T	T	45208935	C	T	45208935	3	4	149	1	0	0	0	0	1	0	0	0	3190	536	19	1	751	1	CEACAM16	19	45208935	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	2478720	45208935	13920048	52	10986											
SLC27A5	10998	genome.wustl.edu	37	chr19	59022824	59022824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccggcacacaggctcgCagggtcacccagctcagcct	10	19	2	0			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr19:59022824C>T	ENST00000263093.2	-	1	608	c.499G>A	c.(499-501)Gcg>Acg	p.A167T	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	167					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACAGGCTCGCAGGGTCACCC	0.701																																																	0								ENSG00000083807						11	10	11					19																	59022824		2177	4271	6448	SLC27A5	SO:0001583	missense	0			-	HGNC	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.499G>A	19.37:g.59022824C>T	ENSP00000263093:p.Ala167Thr	Somatic	0	58	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	B3KVP6|B4DPQ1	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.A167T	ENST00000263093.2	37	c.499	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	9.132	1.011674	0.19277	.	.	ENSG00000083807	ENST00000263093	T	0.55760	0.5	3.78	-7.45	0.01374	AMP-dependent synthetase/ligase (1);	2.083320	0.02152	N	0.058079	T	0.36963	0.0986	L	0.35414	1.06	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24404	-1.0161	10	0.11794	T	0.64	0.9122	11.132	0.48351	0.0:0.2986:0.0:0.7014	.	167	Q9Y2P5	S27A5_HUMAN	T	167	ENSP00000263093:A167T	ENSP00000263093:A167T	A	-	1	0	SLC27A5	63714636	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.357000	0.02607	-1.482000	0.01860	-0.391000	0.06502	GCG	-	pfam_AMP-dep_Synth/Lig		0.701	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	protein_coding	OTTHUMT00000467060.1	C	NM_012254	-		59022824	-1	no_errors	ENST00000263093	ensembl	human	known	74_37	missense	SNP	0.000	T	T	59022824	C	T	59022824	3	4	149	1	0	0	0	0	1	0	0	0	14537	710	25	2	1613	2	SLC27A5	19	59022824	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	13813889	59022824	106159	53	10987											
EIF2S2	8894	genome.wustl.edu	37	chr20	32684518	32684518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttggttcctactcggaCgacttgtggaggtttcatga	11	8	2	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr20:32684518C>T	ENST00000374980.2	-	6	849	c.628G>A	c.(628-630)Gtc>Atc	p.V210I		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	210					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTACTCGGACGACTTGTGGA	0.398																																																	0								ENSG00000125977						109	108	109					20																	32684518		2203	4297	6500	EIF2S2	SO:0001583	missense	0			-	HGNC	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.628G>A	20.37:g.32684518C>T	ENSP00000364119:p.Val210Ile	Somatic	0	81	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	38	38.71	Q9BVU0|Q9UJE4	Missense_Mutation	SNP							pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5	p.V210I	ENST00000374980.2	37	c.628	CCDS13231.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.375453	0.95923	.	.	ENSG00000125977	ENST00000374980	T	0.42131	0.98	5.77	5.77	0.91146	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.49513	1.565	0.80722	D	1	B;D;D	0.59357	0.004;0.985;0.985	B;D;D	0.68621	0.005;0.959;0.959	T	0.56798	-0.7919	10	0.51188	T	0.08	-31.1684	20.3627	0.98863	0.0:1.0:0.0:0.0	.	210;210;210	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	I	210	ENSP00000364119:V210I	ENSP00000364119:V210I	V	-	1	0	EIF2S2	32148179	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.552000	0.82192	2.885000	0.99019	0.655000	0.94253	GTC	-	pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,smart_Transl_init_fac_IF2/IF5		0.398	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S2	protein_coding	OTTHUMT00000078765.2	C	NM_003908	-		32684518	-1	no_errors	ENST00000374980	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32684518	C	T	32684518	3	4	149	1	0	0	0	0	1	0	0	0	5012	536	19	1	389	1	EIF2S2	20	32684518	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09		32684518	30341002	54	10988											
CHRNA4	1137	genome.wustl.edu	37	chr20	61982158	61982158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcgccactctcccagaagTccagctggtccacgcggctg	10	17	1	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chr20:61982158T>A	ENST00000370263.4	-	5	826	c.605A>T	c.(604-606)gAc>gTc	p.D202V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	202					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CTCCCAGAAGTCCAGCTGGTC	0.582																																																	0								ENSG00000101204						132	107	116					20																	61982158		2203	4299	6502	CHRNA4	SO:0001583	missense	0			-	HGNC		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.605A>T	20.37:g.61982158T>A	ENSP00000359285:p.Asp202Val	Somatic	0	80	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D202V	ENST00000370263.4	37	c.605	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221313	0.79464	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79454	-1.27	4.87	3.75	0.43078	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.80422	2.495	0.80722	D	1	D;D	0.58620	0.983;0.967	P;P	0.61940	0.867;0.896	D	0.85613	0.1259	10	0.66056	D	0.02	.	10.6451	0.45615	0.0:0.0774:0.0:0.9226	.	131;202	Q4VAQ5;P43681	.;ACHA4_HUMAN	V	108;202;131	ENSP00000359285:D202V	ENSP00000359280:D108V	D	-	2	0	CHRNA4	61452602	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.397000	0.52572	0.672000	0.31204	0.459000	0.35465	GAC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.582	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	protein_coding	OTTHUMT00000080508.3	T		-		61982158	-1	no_errors	ENST00000370263	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61982158	T	A	61982158	3	1	149	1	0	0	0	0	1	0	0	0	3387	1667	58	5	1286	5	CHRNA4	20	61982158	Missense_Mutation	SNP	T	TCGA-HS-A5N8-01A-11D-A26G-09	29297640	61982158	1043362	55	10989											
MAGEB6	158809	genome.wustl.edu	37	chrX	26211982	26211982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcctcggggtcacaagAgtaagctccgtacctgtgag	12	11	2	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chrX:26211982A>G	ENST00000379034.1	+	2	168	c.19A>G	c.(19-21)Agt>Ggt	p.S7G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	7										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGGTCACAAGAGTAAGCTCCG	0.587																																																	0								ENSG00000176746						76	64	68					X																	26211982		2202	4300	6502	MAGEB6	SO:0001583	missense	0			-	HGNC	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.19A>G	X.37:g.26211982A>G	ENSP00000368320:p.Ser7Gly	Somatic	0	57	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	11	71.79	Q6GS19|Q9H219	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S7G	ENST00000379034.1	37	c.19	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300504	0.40694	.	.	ENSG00000176746	ENST00000379034	T	0.12147	2.71	2.77	1.53	0.23141	Melanoma associated antigen, MAGE, N-terminal (1);	0.779511	0.11663	N	0.541633	T	0.17577	0.0422	M	0.79475	2.455	0.09310	N	1	B	0.26902	0.163	B	0.28991	0.097	T	0.27434	-1.0074	10	0.72032	D	0.01	.	5.1605	0.15058	0.6959:0.3041:0.0:0.0	.	7	Q8N7X4	MAGB6_HUMAN	G	7	ENSP00000368320:S7G	ENSP00000368320:S7G	S	+	1	0	MAGEB6	26121903	0.274000	0.24191	0.006000	0.13384	0.718000	0.41266	0.763000	0.26517	0.313000	0.23062	0.481000	0.45027	AGT	-	pfam_Melanoma_ass_antigen_N		0.587	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	protein_coding	OTTHUMT00000056123.1	A	NM_173523	-		26211982	1	no_errors	ENST00000379034	ensembl	human	known	74_37	missense	SNP	0.006	G	G	26211982	A	G	26211982	3	3	149	1	0	0	0	0	1	0	0	0	9181	304	11	5	21	5	MAGEB6	23	26211982	Missense_Mutation	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09		26211982	129058578	56	10990											
SUV39H1	6839	genome.wustl.edu	37	chrX	48559061	48559061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatgacctctgcatcttcCgcacggatgatgggcgtggc	13	11	2	2			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chrX:48559061C>T	ENST00000376687.3	+	3	935	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Silent_p.S96S|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R260C	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	249	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGCATCTTCCGCACGGATGA	0.602																																																	0								ENSG00000101945						60	46	51					X																	48559061		2203	4300	6503	SUV39H1	SO:0001583	missense	0			-	HGNC	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.745C>T	X.37:g.48559061C>T	ENSP00000365877:p.Arg249Cys	Somatic	0	121	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	23	66.18	B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP							pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.R260C	ENST00000376687.3	37	c.778	CCDS14304.1	X	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709427	0.68730	.	.	ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496	D;D	0.90732	-2.72;-2.72	5.06	5.06	0.68205	SET domain (2);	0.059905	0.64402	D	0.000009	D	0.95310	0.8478	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	D	0.95585	0.8650	10	0.87932	D	0	.	10.1478	0.42774	0.1991:0.8009:0.0:0.0	.	260;249	B4DST0;O43463	.;SUV91_HUMAN	C	260;249;107	ENSP00000337976:R260C;ENSP00000365877:R249C	ENSP00000337976:R260C	R	+	1	0	SUV39H1	48444005	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.255000	0.32909	2.082000	0.62665	0.591000	0.81541	CGC	-	smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom		0.602	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	protein_coding	OTTHUMT00000058909.1	C	NM_003173	-		48559061	1	no_errors	ENST00000337852	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48559061	C	T	48559061	3	4	149	1	0	0	0	0	1	0	0	0	15419	652	23	1	755	1	SUV39H1	23	48559061	Missense_Mutation	SNP	C	TCGA-HS-A5N8-01A-11D-A26G-09	22347079	48559061	106711499	57	10991											
SPRY3	10251	genome.wustl.edu	37	chrX	155004280	155004280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcctccatctgtgccaAcagggctatgatagcctccg	11	13	1	1			TCGA-HS-A5N8-01A-11D-A26G-09	TCGA-HS-A5N8-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acb9a894-a6b5-455d-9398-9b571e32f7f9	83917cee-8439-465e-a985-a291e4d88f3e	g.chrX:155004280A>G	ENST00000302805.2	+	2	1178	c.747A>G	c.(745-747)caA>caG	p.Q249Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	249	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						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)					ATCTGTGCCAACAGGGCTATG	0.592													A|||	970	0.19369	0.2489	0.1744	5008	,	,		20237	0.0179		0.2992	False		,,,				2504	0.2055																0								ENSG00000168939	A		1040,3366		132,776,1295	207	192	197		747	2	1	X	dbSNP_134	197	2390,6202		328,1734,2234	no	coding-synonymous	SPRY3	NM_005840.1		460,2510,3529	GG,GA,AA		27.8166,23.6042,26.3887		249/289	155004280	3430,9568	2203	4296	6499	SPRY3	SO:0001819	synonymous_variant	0			-	HGNC	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.747A>G	X.37:g.155004280A>G		Somatic	0	119	0		0.79300904196087				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A8K0H8	Silent	SNP							pfam_Sprouty	p.Q249	ENST00000302805.2	37	c.747	CCDS14769.4	X																																																																																			-	pfam_Sprouty		0.592	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	protein_coding	OTTHUMT00000058823.2	A	NM_005840	-		155004280	1	no_errors	ENST00000302805	ensembl	human	known	74_37	silent	SNP	1.000	G	G	155004280	A	G	155004280	2	3	149	1	0	0	0	0	0	0	0	1	15114	40	2	5		5	SPRY3	23	155004280	Silent	SNP	A	TCGA-HS-A5N8-01A-11D-A26G-09	106445219	155004280	266280	58	10992											
TLR5	7100	genome.wustl.edu	37	chr1	223285856	223285856	+	Frame_Shift_Del	DEL	T	T	-													tggaggaaaaatctatggacTttaaggaattcaacttccca							TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr1:223285856delT	ENST00000540964.1	-	4	979	c.518delA	c.(517-519)aagfs	p.K173fs	TLR5_ENST00000342210.6_Frame_Shift_Del_p.K173fs			O60602	TLR5_HUMAN	toll-like receptor 5	173					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATCTATGGACTTTAAGGAATT	0.388																																																	0								ENSG00000187554						59	63	62					1																	223285856		2203	4300	6503	TLR5	SO:0001589	frameshift_variant	0				HGNC		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.518delA	1.37:g.223285856delT	ENSP00000440643:p.Lys173fs	Somatic	0	27	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Frame_Shift_Del	DEL							pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.K173fs	ENST00000540964.1	37	c.518	CCDS31033.1	1																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.388	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	protein_coding		T	NM_003268			223285856	-1	no_errors	ENST00000342210	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	223285856	T	-	223285856	7	5	150	1	0	1	0	1	0	0	0	0	15961	1609	56	0	2062	0	TLR5	1	223285856	Frame_Shift_Del	DEL	T	TCGA-IE-A3OV-01A-11D-A228-09		223285856	25964765	1	10993											
NRXN1	9378	genome.wustl.edu	37	chr2	50847269	50847269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccccagcatggtataaTcttcttgcgtgtagcccgtt	9	12	2	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr2:50847269T>C	ENST00000406316.2	-	8	2687	c.1211A>G	c.(1210-1212)gAt>gGt	p.D404G	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.D404G|NRXN1_ENST00000406859.3_Missense_Mutation_p.D404G|NRXN1_ENST00000404971.1_Missense_Mutation_p.D444G|NRXN1_ENST00000402717.3_Missense_Mutation_p.D396G|NRXN1_ENST00000405472.3_Missense_Mutation_p.D396G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	404	Laminin G-like 2. {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)			CATGGTATAATCTTCTTGCGT	0.478																																																	0								ENSG00000179915						65	66	66					2																	50847269		2050	4225	6275	NRXN1	SO:0001583	missense	0			-	HGNC	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.1211A>G	2.37:g.50847269T>C	ENSP00000384311:p.Asp404Gly	Somatic	0	39	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.D396G	ENST00000406316.2	37	c.1187	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554603	0.65425	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.1;-1.21;-1.1;-1.21	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	L	0.28115	0.83	0.52501	D	0.99995	D;P;D	0.89917	1.0;0.952;0.99	D;P;D	0.78314	0.991;0.863;0.954	D	0.84286	0.0497	10	0.72032	D	0.01	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	444;404;396	Q9ULB1-3;F8WB18;A7E294	.;.;.	G	444;404;396;404;445;396;404	ENSP00000385142:D444G;ENSP00000384311:D404G;ENSP00000434015:D396G;ENSP00000385017:D404G;ENSP00000385434:D396G;ENSP00000385681:D404G	ENSP00000385017:D404G	D	-	2	0	NRXN1	50700773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	T		-		50847269	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50847269	T	C	50847269	3	2	150	1	0	0	0	0	1	0	0	0	10667	1435	50	5	3639	5	NRXN1	2	50847269	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09		50847269	192352104	2	10994											
SH3BP5	9467	genome.wustl.edu	37	chr3	15311315	15311315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggccagggagatggtctCcttggcggcacggagcacct	15	13	1	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr3:15311315C>T	ENST00000383791.3	-	4	620	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000465894.2_5'Flank|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	134					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GAGATGGTCTCCTTGGCGGCA	0.607																																																	0								ENSG00000131370						111	114	113					3																	15311315		2203	4300	6503	SH3BP5	SO:0001583	missense	0			-	HGNC	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.400G>A	3.37:g.15311315C>T	ENSP00000373301:p.Glu134Lys	Somatic	0	25	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	B3KQW6|Q5JWV9	Missense_Mutation	SNP							pfam_SH3-bd_5	p.E134K	ENST00000383791.3	37	c.400	CCDS2625.2	3	.	.	.	.	.	.	.	.	.	.	C	34	5.318577	0.95682	.	.	ENSG00000131370	ENST00000383791	.	.	.	5.62	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.81304	-0.0993	9	0.87932	D	0	-22.5735	10.9615	0.47387	0.0:0.7989:0.1305:0.0706	.	134	O60239	3BP5_HUMAN	K	134	.	ENSP00000373301:E134K	E	-	1	0	SH3BP5	15286319	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	7.710000	0.84655	0.731000	0.32448	0.555000	0.69702	GAG	-	pfam_SH3-bd_5		0.607	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	protein_coding	OTTHUMT00000340740.2	C	NM_004844	-		15311315	-1	no_errors	ENST00000383791	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15311315	C	T	15311315	3	4	150	1	0	0	0	0	1	0	0	0	14255	864	30	2	991	2	SH3BP5	3	15311315	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09		15311315	182711115	3	10995											
CAMKV	79012	genome.wustl.edu	37	chr3	49898704	49898704	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgacaatcttcgagttcttCagccggttgtagtaaaccag	9	9	3	1	rs569820460	byFrequency	TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr3:49898704C>T	ENST00000477224.1	-	6	949	c.471G>A	c.(469-471)ctG>ctA	p.L157L	CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000466940.1_Silent_p.L114L|CAMKV_ENST00000463537.1_Silent_p.L157L|CAMKV_ENST00000467248.1_Silent_p.L82L|CAMKV_ENST00000488336.1_Silent_p.L157L|CAMKV_ENST00000296471.7_Silent_p.L157L|RN7SL217P_ENST00000584520.1_RNA			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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)		TCGAGTTCTTCAGCCGGTTGT	0.532													C|||	2	0.000399361	0	0.0029	5008	,	,		15769	0		0	False		,,,				2504	0																0								ENSG00000164076						87	81	83					3																	49898704		2203	4300	6503	CAMKV	SO:0001819	synonymous_variant	0			-	HGNC	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.471G>A	3.37:g.49898704C>T		Somatic	0	37	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L157	ENST00000477224.1	37	c.471	CCDS33762.1	3																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	protein_coding	OTTHUMT00000350584.4	C	NM_024046	-		49898704	-1	no_errors	ENST00000477224	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49898704	C	T	49898704	2	4	150	1	0	0	0	0	0	0	0	1	2610	813	29	2		2	CAMKV	3	49898704	Silent	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09	34587389	49898704	148123726	4	10996											
SGEF	26084	genome.wustl.edu	37	chr3	153935690	153935690	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcaatgagggcgcccggaaGatggaaaggactgagatgat	16	6	0	4			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr3:153935690G>A	ENST00000356448.4	+	10	2162	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.K626K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	626					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCGCCCGGAAGATGGAAAGGA	0.418																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0								ENSG00000114790						98	93	94					3																	153935690		1858	4105	5963	ARHGEF26	SO:0001819	synonymous_variant	0			-	HGNC	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1878G>A	3.37:g.153935690G>A		Somatic	0	102	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	66	37.14	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K626	ENST00000356448.4	37	c.1878	CCDS46938.1	3																																																																																			-	superfamily_DH-domain		0.418	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	protein_coding	OTTHUMT00000353287.3	G	NM_015595	-		153935690	1	no_errors	ENST00000356448	ensembl	human	known	74_37	silent	SNP	1.000	A	A	153935690	G	A	153935690	2	1	150	1	0	0	0	0	0	0	0	1	14213	933	33	2		2	SGEF	3	153935690	Silent	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	104036986	153935690	44086740	5	10997											
GK2	2712	genome.wustl.edu	37	chr4	80328766	80328766	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgcatttgttacatctgTacaatgcacgcctccattaa	5	11	1	0			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr4:80328766T>C	ENST00000358842.3	-	1	606	c.589A>G	c.(589-591)Aca>Gca	p.T197A		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTTACATCTGTACAATGCACG	0.398																																																	0								ENSG00000196475						103	99	100					4																	80328766		2203	4300	6503	GK2	SO:0001583	missense	0			-	HGNC	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.589A>G	4.37:g.80328766T>C	ENSP00000351706:p.Thr197Ala	Somatic	0	56	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	Q7Z4Q4	Missense_Mutation	SNP							pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.T197A	ENST00000358842.3	37	c.589	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174253	0.38413	.	.	ENSG00000196475	ENST00000358842	T	0.55234	0.53	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83131	-0.0113	10	0.87932	D	0	-7.3968	11.0964	0.48147	0.0:0.0:0.0:1.0	.	197	Q14410	GLPK2_HUMAN	A	197	ENSP00000351706:T197A	ENSP00000351706:T197A	T	-	1	0	GK2	80547790	1.000000	0.71417	0.451000	0.26982	0.102000	0.19082	7.465000	0.80898	1.958000	0.56883	0.477000	0.44152	ACA	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin		0.398	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	protein_coding	OTTHUMT00000252517.2	T	NM_033214	-		80328766	-1	no_errors	ENST00000358842	ensembl	human	known	74_37	missense	SNP	0.999	C	C	80328766	T	C	80328766	3	2	150	1	0	0	0	0	1	0	0	0	6423	1638	57	5	1076	5	GK2	4	80328766	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09		80328766	110825510	6	10998											
GALNT7	51809	genome.wustl.edu	37	chr4	174090036	174090036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttgctggtggtgggaaGcttcctggggctagtggtcc	17	8	0	0	rs373166043		TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr4:174090036G>A	ENST00000265000.4	+	1	133	c.50G>A	c.(49-51)aGc>aAc	p.S17N	RP11-10K16.1_ENST00000510523.1_RNA|RP11-10K16.1_ENST00000500914.2_RNA|GALNT7_ENST00000512285.1_Missense_Mutation_p.S17N|RP11-10K16.1_ENST00000499322.2_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	17					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)		GTGGTGGGAAGCTTCCTGGGG	0.672																																																	0								ENSG00000109586						138	123	128					4																	174090036		2203	4300	6503	GALNT7	SO:0001583	missense	0			-	HGNC	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.50G>A	4.37:g.174090036G>A	ENSP00000265000:p.Ser17Asn	Somatic	0	104	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	59	27.16	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S17N	ENST00000265000.4	37	c.50	CCDS3815.1	4	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790996	0.50102	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.56103	0.48;1.52	2.77	1.91	0.25777	.	1.513420	0.03414	N	0.205207	T	0.33847	0.0877	N	0.08118	0	0.23254	N	0.998031	B	0.20261	0.043	B	0.10450	0.005	T	0.25502	-1.0130	10	0.49607	T	0.09	.	5.942	0.19198	0.1623:0.0:0.8377:0.0	.	17	Q86SF2	GALT7_HUMAN	N	17	ENSP00000265000:S17N;ENSP00000427050:S17N	ENSP00000265000:S17N	S	+	2	0	GALNT7	174326611	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	3.533000	0.53561	0.307000	0.22880	0.298000	0.19748	AGC	-	NULL		0.672	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	protein_coding	OTTHUMT00000362456.2	G	NM_017423	-		174090036	1	no_errors	ENST00000265000	ensembl	human	known	74_37	missense	SNP	0.997	A	A	174090036	G	A	174090036	3	1	150	1	0	0	0	0	1	0	0	0	6220	971	34	2	52	2	GALNT7	4	174090036	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	93761270	174090036	17064240	7	10999											
ACOT12	134526	genome.wustl.edu	37	chr5	80626231	80626231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaaaatgtgcttacaaaCccatcatcaggaggattctc	6	10	3	0			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr5:80626231C>T	ENST00000307624.3	-	15	1678	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	550					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGCTTACAAACCCATCATCAG	0.398																																																	0								ENSG00000172497						75	77	76					5																	80626231		2203	4300	6503	ACOT12	SO:0001819	synonymous_variant	0			-	HGNC	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1650G>A	5.37:g.80626231C>T		Somatic	0	27	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B3KVK9|Q5FWE9	Silent	SNP							pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.G550	ENST00000307624.3	37	c.1650	CCDS4055.1	5																																																																																			-	NULL		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	protein_coding	OTTHUMT00000254074.1	C	NM_130767	-		80626231	-1	no_errors	ENST00000307624	ensembl	human	known	74_37	silent	SNP	0.000	T	T	80626231	C	T	80626231	2	4	150	1	0	0	0	0	0	0	0	1	150	494	18	2		2	ACOT12	5	80626231	Silent	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09		80626231	100289029	8	11000											
PCDHA13	56136	genome.wustl.edu	37	chr5	140262706	140262706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttactcatttagaaggcctGtatggcctgcagtggtatat	10	7	1	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr5:140262706G>T	ENST00000289272.2	+	1	853	c.853G>T	c.(853-855)Gta>Tta	p.V285L	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V285L|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	285	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)			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)			TAGAAGGCCTGTATGGCCTGC	0.363																																					Melanoma(147;1739 1852 5500 27947 37288)												0								ENSG00000239389						76	76	76					5																	140262706		2203	4300	6503	PCDHA13	SO:0001583	missense	0			-	HGNC	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.853G>T	5.37:g.140262706G>T	ENSP00000289272:p.Val285Leu	Somatic	0	32	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	O75277	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V285L	ENST00000289272.2	37	c.853	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	8.935	0.964292	0.18583	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.72	5.58	-0.61	0.11604	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35711	0.0941	L	0.39245	1.2	0.09310	N	1	B;B;B	0.18610	0.029;0.013;0.019	B;B;B	0.32928	0.155;0.039;0.056	T	0.40572	-0.9556	9	0.40728	T	0.16	.	2.1469	0.03790	0.3487:0.117:0.4142:0.12	.	285;285;285	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	285	ENSP00000386821:V285L;ENSP00000289272:V285L	ENSP00000289272:V285L	V	+	1	0	PCDHA13	140242890	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	0.379000	0.20585	-0.463000	0.06973	0.561000	0.74099	GTA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.363	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	G	NM_018904	-		140262706	1	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	SNP	0.000	T	T	140262706	G	T	140262706	3	4	150	1	0	0	0	0	1	0	0	0	11525	1377	48	3	855	3	PCDHA13	5	140262706	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	59636475	140262706	40652554	9	11001											
TRIM31	11074	genome.wustl.edu	37	chr6	30078449	30078449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcttctcatgttctaCctggtcctaagaaacaggga	8	11	2	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr6:30078449C>T	ENST00000376734.3	-	4	645	c.520G>A	c.(520-522)Gta>Ata	p.V174I	TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.V174I	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	174					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCATGTTCTACCTGGTCCTAA	0.463																																																	0								ENSG00000204616						67	65	66					6																	30078449		2203	4300	6503	TRIM31	SO:0001583	missense	0			-	HGNC	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.520G>A	6.37:g.30078449C>T	ENSP00000365924:p.Val174Ile	Somatic	0	39	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING	p.V174I	ENST00000376734.3	37	c.520	CCDS34374.1	6	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147863	0.21288	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.67345	-0.26;-0.26	3.49	2.61	0.31194	.	.	.	.	.	T	0.30039	0.0752	L	0.29908	0.895	0.19300	N	0.99997	B	0.19817	0.039	B	0.21360	0.034	T	0.19778	-1.0295	9	0.42905	T	0.14	.	5.009	0.14302	0.0:0.6608:0.2197:0.1195	.	174	Q9BZY9	TRI31_HUMAN	I	174	ENSP00000365924:V174I;ENSP00000444311:V174I	ENSP00000365918:V174I	V	-	1	0	TRIM31	30186428	0.000000	0.05858	0.265000	0.24526	0.035000	0.12851	0.103000	0.15292	0.778000	0.33520	0.453000	0.30009	GTA	-	NULL		0.463	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	protein_coding	OTTHUMT00000076081.2	C		-		30078449	-1	no_errors	ENST00000376734	ensembl	human	known	74_37	missense	SNP	0.445	T	T	30078449	C	T	30078449	3	4	150	1	0	0	0	0	1	0	0	0	16512	507	18	2	781	2	TRIM31	6	30078449	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09		30078449	141036618	10	11002											
MDN1	23195	genome.wustl.edu	37	chr6	90448081	90448081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagacacaatcctggacGaagattatgactgatgatct	9	10	1	5			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr6:90448081G>A	ENST00000369393.3	-	33	4802	c.4687C>T	c.(4687-4689)Cgt>Tgt	p.R1563C	MDN1_ENST00000428876.1_Missense_Mutation_p.R1563C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1563					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCCTGGACGAAGATTATGA	0.443																																																	0								ENSG00000112159						147	130	136					6																	90448081		2203	4300	6503	MDN1	SO:0001583	missense	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4687C>T	6.37:g.90448081G>A	ENSP00000358400:p.Arg1563Cys	Somatic	0	94	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	48	34.25	O15019|Q5T794	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R1563C	ENST00000369393.3	37	c.4687	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956283	0.34565	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.42131	0.98;0.98	5.69	3.9	0.45041	.	0.302743	0.36815	N	0.002381	T	0.20455	0.0492	L	0.47190	1.495	0.52099	D	0.999943	B	0.13145	0.007	B	0.12837	0.008	T	0.06807	-1.0806	10	0.59425	D	0.04	.	10.7103	0.45980	0.0682:0.0:0.7993:0.1325	.	1563	Q9NU22	MDN1_HUMAN	C	1563	ENSP00000358400:R1563C;ENSP00000413970:R1563C	ENSP00000358400:R1563C	R	-	1	0	MDN1	90504802	0.999000	0.42202	0.988000	0.46212	0.943000	0.58893	2.427000	0.44740	0.747000	0.32809	0.557000	0.71058	CGT	-	superfamily_P-loop_NTPase,pirsf_Midasin		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	G		-		90448081	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	SNP	0.998	A	A	90448081	G	A	90448081	3	1	150	1	0	0	0	0	1	0	0	0	9417	1058	37	1	12383	1	MDN1	6	90448081	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	60369632	90448081	80666986	11	11003											
MDN1	23195	genome.wustl.edu	37	chr6	90513121	90513121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcagatcatggttgatTtggcctccagctttaatggc	10	9	2	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr6:90513121T>C	ENST00000369393.3	-	2	370	c.255A>G	c.(253-255)caA>caG	p.Q85Q	MDN1_ENST00000428876.1_Silent_p.Q85Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	85					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATGGTTGATTTGGCCTCCAG	0.468																																																	0								ENSG00000112159						260	226	237					6																	90513121		2203	4300	6503	MDN1	SO:0001819	synonymous_variant	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.255A>G	6.37:g.90513121T>C		Somatic	0	58	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	62.50	O15019|Q5T794	Silent	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.Q85	ENST00000369393.3	37	c.255	CCDS5024.1	6																																																																																			-	pirsf_Midasin		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	T		-		90513121	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	SNP	0.871	C	C	90513121	T	C	90513121	2	2	150	1	0	0	0	0	0	0	0	1	9417	1838	64	5		5	MDN1	6	90513121	Silent	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09	65040	90513121	80601946	12	11004											
TBXAS1	6916	genome.wustl.edu	37	chr7	139653173	139653173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatccattatcagatggttCccctcatcagccaagcctgc	6	14	3	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr7:139653173C>A	ENST00000336425.5	+	10	846	c.457C>A	c.(457-459)Ccc>Acc	p.P153T	TBXAS1_ENST00000436047.2_Missense_Mutation_p.P154T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P199T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P200T|TBXAS1_ENST00000263552.6_Missense_Mutation_p.P154T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P154T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P153T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P86T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P153T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	153					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	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 (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TCAGATGGTTCCCCTCATCAG	0.478																																																	0								ENSG00000059377						127	114	118					7																	139653173		2203	4300	6503	TBXAS1	SO:0001583	missense	0			-	HGNC	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.457C>A	7.37:g.139653173C>A	ENSP00000338087:p.Pro153Thr	Somatic	0	34	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.P200T	ENST00000336425.5	37	c.598		7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054850	0.75960	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	M	0.78916	2.43	0.80722	D	1	D;D;P;D;D;P;P	0.89917	0.999;1.0;0.885;1.0;0.991;0.885;0.885	D;D;P;D;D;P;P	0.97110	0.99;1.0;0.766;1.0;0.973;0.833;0.833	D	0.86122	0.1569	10	0.62326	D	0.03	.	18.8712	0.92315	0.0:1.0:0.0:0.0	.	134;200;105;86;154;154;153	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	T	86;154;153;200;154;154;153;199;153	ENSP00000388736:P86T;ENSP00000263552:P154T;ENSP00000338087:P153T;ENSP00000389414:P200T;ENSP00000392361:P154T;ENSP00000392702:P154T;ENSP00000402536:P153T;ENSP00000411274:P199T;ENSP00000411326:P153T	ENSP00000263552:P154T	P	+	1	0	TBXAS1	139299642	1.000000	0.71417	0.315000	0.25238	0.418000	0.31294	6.485000	0.73625	2.549000	0.85964	0.655000	0.94253	CCC	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.478	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	protein_coding	OTTHUMT00000348373.1	C		-		139653173	1	no_errors	ENST00000416849	ensembl	human	known	74_37	missense	SNP	0.999	A	A	139653173	C	A	139653173	3	1	150	1	0	0	0	0	1	0	0	0	15671	855	30	3	624	3	TBXAS1	7	139653173	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09		139653173	19485490	13	11005											
CSMD1	64478	genome.wustl.edu	37	chr8	3565992	3565992	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttgactcctcttgacTtcaactcaatcgcctttttc	4	14	4	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr8:3565992T>A	ENST00000520002.1	-	7	1508	c.953A>T	c.(952-954)aAg>aTg	p.K318M	CSMD1_ENST00000539096.1_Missense_Mutation_p.K318M|CSMD1_ENST00000537824.1_Missense_Mutation_p.K318M|CSMD1_ENST00000602723.1_Missense_Mutation_p.K318M|CSMD1_ENST00000400186.3_Missense_Mutation_p.K318M|CSMD1_ENST00000542608.1_Missense_Mutation_p.K318M|CSMD1_ENST00000602557.1_Missense_Mutation_p.K318M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	318						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)		TCCTCTTGACTTCAACTCAAT	0.438																																																	0								ENSG00000183117						95	94	94					8																	3565992		1980	4170	6150	CSMD1	SO:0001583	missense	0			-	HGNC			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.953A>T	8.37:g.3565992T>A	ENSP00000430733:p.Lys318Met	Somatic	0	30	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K318M	ENST00000520002.1	37	c.953		8	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493271	0.84962	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.54	5.54	0.83059	.	.	.	.	.	D	0.91379	0.7280	L	0.55990	1.75	0.39837	D	0.973053	D	0.63046	0.992	D	0.72075	0.976	D	0.92472	0.5986	9	0.62326	D	0.03	.	14.2483	0.66001	0.0:0.0:0.0:1.0	.	318	E5RIG2	.	M	318;318;180;318;318;318	ENSP00000383047:K318M;ENSP00000430733:K318M;ENSP00000441462:K318M;ENSP00000446243:K318M;ENSP00000441675:K318M	ENSP00000320445:K180M	K	-	2	0	CSMD1	3553400	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.290000	0.72712	2.087000	0.62958	0.528000	0.53228	AAG	-	NULL		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	T	NM_033225	-		3565992	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3565992	T	A	3565992	3	1	150	1	0	0	0	0	1	0	0	0	3946	1609	56	5	9810	5	CSMD1	8	3565992	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09		3565992	142798030	14	11006											
HR	55806	genome.wustl.edu	37	chr8	21983187	21983187	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagttttgcagggagagcCaggcatggtatgtcctgaag	15	8	0	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr8:21983187C>A	ENST00000381418.4	-	4	2944	c.1464G>T	c.(1462-1464)ctG>ctT	p.L488L	HR_ENST00000312841.8_Silent_p.L488L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	488					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGGGAGAGCCAGGCATGGTA	0.607																																																	0								ENSG00000168453						68	59	62					8																	21983187		2203	4300	6503	HR	SO:0001819	synonymous_variant	0			-	HGNC	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1464G>T	8.37:g.21983187C>A		Somatic	0	105	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	62	26.19	Q6GS30|Q96H33|Q9NPE1	Silent	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L488	ENST00000381418.4	37	c.1464	CCDS6022.1	8																																																																																			-	NULL		0.607	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	protein_coding	OTTHUMT00000214213.1	C		-		21983187	-1	no_errors	ENST00000381418	ensembl	human	known	74_37	silent	SNP	0.000	A	A	21983187	C	A	21983187	2	1	150	1	0	0	0	0	0	0	0	1	7349	581	21	3		3	HR	8	21983187	Silent	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09	18417195	21983187	124380835	15	11007											
KIAA1045	23349	genome.wustl.edu	37	chr9	34971556	34971556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccgagatgggcgcggCgtggagcctgaggagtttga	19	9	0	3			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr9:34971556C>T	ENST00000242315.3	+	2	343	c.261C>T	c.(259-261)ggC>ggT	p.G87G	KIAA1045_ENST00000544237.1_Silent_p.G87G|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	87							metal ion binding (GO:0046872)	p.G87G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ATGGGCGCGGCGTGGAGCCTG	0.617																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000122733						79	94	89					9																	34971556		2009	4164	6173	KIAA1045	SO:0001819	synonymous_variant	0			-	HGNC	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.261C>T	9.37:g.34971556C>T		Somatic	0	41	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B7Z253|Q58FE9|Q5T662	Silent	SNP							superfamily_Znf_FYVE_PHD	p.G87	ENST00000242315.3	37	c.261	CCDS43796.1	9																																																																																			-	NULL		0.617	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1045	protein_coding	OTTHUMT00000052256.2	C	XM_048592	-		34971556	1	no_errors	ENST00000242315	ensembl	human	known	74_37	silent	SNP	0.080	T	T	34971556	C	T	34971556	2	4	150	1	0	0	0	0	0	0	0	1	8209	755	27	1		1	KIAA1045	9	34971556	Silent	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09		34971556	106241875	16	11008											
DIP2C	22982	genome.wustl.edu	37	chr10	408445	408445	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catacctggctgcttctgtcGaggcttaggcaagtttgtga	12	9	1	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr10:408445G>T	ENST00000280886.6	-	22	2866	c.2779C>A	c.(2779-2781)Cga>Aga	p.R927R	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.R248R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	927						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCTTCTGTCGAGGCTTAGGC	0.572																																																	0								ENSG00000151240						72	64	67					10																	408445		2203	4300	6503	DIP2C	SO:0001819	synonymous_variant	0			-	HGNC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2779C>A	10.37:g.408445G>T		Somatic	0	60	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4DPI5|Q5SS78	Silent	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.R927	ENST00000280886.6	37	c.2779	CCDS7054.1	10																																																																																			-	NULL		0.572	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	protein_coding	OTTHUMT00000046389.1	G	NM_014974	-		408445	-1	no_errors	ENST00000280886	ensembl	human	known	74_37	silent	SNP	1.000	T	T	408445	G	T	408445	2	4	150	1	0	0	0	0	0	0	0	1	4531	1066	37	3		3	DIP2C	10	408445	Silent	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09		408445	135126302	17	11009											
MUC2	4583	genome.wustl.edu	37	chr11	1077634	1077634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagccccgggctgctcatTgagaagagcgatgcctacac	11	13	1	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr11:1077634T>C	ENST00000441003.2	+	3	411	c.384T>C	c.(382-384)atT>atC	p.I128I	MUC2_ENST00000359061.5_Silent_p.I128I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	128	VWFD 1. {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)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCTGCTCATTGAGAAGAGCG	0.667																																																	0								ENSG00000198788						33	39	37					11																	1077634		1958	4126	6084	MUC2	SO:0001819	synonymous_variant	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.384T>C	11.37:g.1077634T>C		Somatic	0	59	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q14878	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.I128	ENST00000441003.2	37	c.384		11																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	T	NM_002457	-		1077634	1	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	SNP	0.750	C	C	1077634	T	C	1077634	2	2	150	1	0	0	0	0	0	0	0	1	9977	1800	63	5		5	MUC2	11	1077634	Silent	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09		1077634	133928882	18	11010											
TRIM44	54765	genome.wustl.edu	37	chr11	35706846	35706846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccgctatgatcgaaTtggtggaaaggttgaagttc	14	5	0	3			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr11:35706846T>C	ENST00000299413.5	+	2	1016	c.709T>C	c.(709-711)Ttg>Ctg	p.L237L		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	237						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TATGATCGAATTGGTGGAAAG	0.433																																																	0								ENSG00000166326						156	149	151					11																	35706846		2202	4298	6500	TRIM44	SO:0001819	synonymous_variant	0			-	HGNC	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19016	protein-coding gene	gene with protein product		612298	"tripartite motif-containing 44"				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.709T>C	11.37:g.35706846T>C		Somatic	0	55	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	D3DR14|Q96QY2|Q9UGK0	Silent	SNP							pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.L237	ENST00000299413.5	37	c.709	CCDS31461.1	11																																																																																			-	NULL		0.433	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM44	protein_coding	OTTHUMT00000389081.1	T	NM_017583	-		35706846	1	no_errors	ENST00000299413	ensembl	human	known	74_37	silent	SNP	1.000	C	C	35706846	T	C	35706846	2	2	150	1	0	0	0	0	0	0	0	1	16526	1490	52	5		5	TRIM44	11	35706846	Silent	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09	34629212	35706846	99299670	19	11011											
FAM90A1	55138	genome.wustl.edu	37	chr12	8375178	8375178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgcctgactgcagtcTgagggatgtcggccgcagcc	15	13	1	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr12:8375178T>G	ENST00000538603.1	-	7	1193	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	FAM90A1_ENST00000307435.6_Missense_Mutation_p.Q212P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	212							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)		GACTGCAGTCTGAGGGATGTC	0.617																																																	0								ENSG00000171847						39	60	53					12																	8375178		2096	4204	6300	FAM90A1	SO:0001583	missense	0			-	HGNC	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.635A>C	12.37:g.8375178T>G	ENSP00000445418:p.Gln212Pro	Somatic	0	280	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	206	19.22	D3DUU9|Q9NVZ6	Missense_Mutation	SNP							NULL	p.Q212P	ENST00000538603.1	37	c.635	CCDS31738.1	12	.	.	.	.	.	.	.	.	.	.	.	2.088	-0.409035	0.04799	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.13778	2.56;2.56	0.722	0.722	0.18225	.	.	.	.	.	T	0.09423	0.0232	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30592	-0.9973	8	0.40728	T	0.16	-0.0568	.	.	.	.	212	Q86YD7	F90A1_HUMAN	P	212	ENSP00000307798:Q212P;ENSP00000445418:Q212P	ENSP00000307798:Q212P	Q	-	2	0	FAM90A1	8266445	0.016000	0.18221	0.005000	0.12908	0.019000	0.09904	0.264000	0.18497	0.568000	0.29311	0.163000	0.16589	CAG	-	NULL		0.617	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	protein_coding	OTTHUMT00000400468.1	T	NM_018088	-		8375178	-1	no_errors	ENST00000307435	ensembl	human	known	74_37	missense	SNP	0.005	G	G	8375178	T	G	8375178	3	3	150	1	0	0	0	0	1	0	0	0	5652	1580	55	5	763	5	FAM90A1	12	8375178	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09		8375178	125476717	20	11012											
PFKM	29843	genome.wustl.edu	37	chr12	48501209	48501209	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgtgtgattcagtctcGccagttagtcaggactcctc	10	11	3	1	rs193298317	byFrequency	TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr12:48501209G>A	ENST00000004980.5	-	0	0				SENP1_ENST00000339976.6_5'Flank|SENP1_ENST00000448372.1_5'Flank|PFKM_ENST00000340802.6_Missense_Mutation_p.R18H|SENP1_ENST00000551330.1_5'Flank|SENP1_ENST00000549518.1_5'Flank			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTCAGTCTCGCCAGTTAGTC	0.433																																																	0								ENSG00000152556						222	193	202					12																	48501209		1568	3582	5150	PFKM	SO:0001631	upstream_gene_variant	0			-	HGNC	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896		12.37:g.48501209G>A	Exception_encountered	Somatic	0	45	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	A8K7P5|Q86XC8	Missense_Mutation	SNP							NULL	p.R18H	ENST00000004980.5	37	c.53	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121313	0.56613	.	.	ENSG00000152556	ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288	T;D;D;D	0.88664	-1.47;-2.38;-2.41;-2.4	3.92	1.96	0.26148	.	0.428948	0.17391	N	0.175934	T	0.70954	0.3283	N	0.08118	0	0.21220	N	0.999751	B	0.25667	0.131	B	0.17722	0.019	T	0.56998	-0.7886	10	0.15952	T	0.53	-1.1249	4.5828	0.12267	0.1347:0.2236:0.6416:0.0	.	18	Q6ZTT1	.	H	18	ENSP00000345771:R18H;ENSP00000449622:R18H;ENSP00000448940:R18H;ENSP00000448018:R18H	ENSP00000345771:R18H	R	+	2	0	PFKM	46787476	0.833000	0.29383	0.260000	0.24451	0.903000	0.53119	1.019000	0.30014	0.546000	0.28920	0.591000	0.81541	CGC	-	NULL		0.433	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PFKM	protein_coding	OTTHUMT00000406471.1	G	NM_014554	-		48501209	1	no_errors	ENST00000547581	ensembl	human	known	74_37	missense	SNP	0.301	A	A	48501209	G	A	48501209	1	1	150	0	1	0	0	0	0	0	0	0	11767	1087	38	1		1	PFKM	12	48501209	5'Flank	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	40126031	48501209	85350686	21	11013											
BEST3	144453	genome.wustl.edu	37	chr12	70088220	70088220	+	Frame_Shift_Del	DEL	T	T	-													gataatttttcaaagtaacgTttttggactcctgtaagtaa					rs566733141	byFrequency	TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr12:70088220delT	ENST00000330891.5	-	3	403	c.177delA	c.(175-177)aaafs	p.K59fs	BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.K59fs|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	59					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAAAGTAACGTTTTTGGACTC	0.373													TTTTT|TTTTT|TTTT|deletion	53	0.0105831	8e-04	0.0187	5008	,	,		17586	0		0.0288	False		,,,				2504	0.0102																0								ENSG00000127325			3,28,3577		1,0,1,2,24,1776	101	94	96			5.1	1	12		98	0,284,7584		0,0,0,8,268,3658	no	codingComplex	BEST3	NM_032735.2		1,0,1,10,292,5434	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6096,0.8592,2.7449			70088220	3,312,11161	1872	4113	5985	BEST3	SO:0001589	frameshift_variant	0				HGNC	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.177delA	12.37:g.70088220delT	ENSP00000332413:p.Lys59fs	Somatic	0	24	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL							pfam_Bestrophin/UPF0187	p.K59fs	ENST00000330891.5	37	c.177	CCDS8992.2	12																																																																																			-	pfam_Bestrophin/UPF0187		0.373	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	protein_coding	OTTHUMT00000313908.2	T	NM_152439			70088220	-1	no_errors	ENST00000330891	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70088220	T	-	70088220	7	5	150	1	0	1	0	1	0	0	0	0	1406	1722	60	0	1861	0	BEST3	12	70088220	Frame_Shift_Del	DEL	T	TCGA-IE-A3OV-01A-11D-A228-09	21587011	70088220	63763675	22	11014											
ACACB	32	genome.wustl.edu	37	chr12	109604769	109604769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgctgagtttgtcacaCgctttgggggggatcgggtc	15	11	1	1	rs149394526		TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr12:109604769C>T	ENST00000338432.7	+	3	876	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	ACACB_ENST00000377854.5_Missense_Mutation_p.R253C|ACACB_ENST00000377848.3_Missense_Mutation_p.R253C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	253					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GTTTGTCACACGCTTTGGGGG	0.612																																																	0								ENSG00000076555	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	75	77		757	5.6	1	12	dbSNP_134	77	0,8600		0,0,4300	no	missense	ACACB	NM_001093.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	253/2459	109604769	1,13005	2203	4300	6503	ACACB	SO:0001583	missense	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.757C>T	12.37:g.109604769C>T	ENSP00000341044:p.Arg253Cys	Somatic	0	47	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP							pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R253C	ENST00000338432.7	37	c.757	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395717	0.83011	2.27E-4	0.0	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.75367	-0.93;-0.93;-0.93	5.55	5.55	0.83447	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	P	0.57244	0.816	D	0.87329	0.2323	10	0.66056	D	0.02	.	19.1106	0.93315	0.0:1.0:0.0:0.0	.	253	O00763	ACACB_HUMAN	C	253	ENSP00000341044:R253C;ENSP00000367079:R253C;ENSP00000367085:R253C	ENSP00000341044:R253C	R	+	1	0	ACACB	108089152	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	5.975000	0.70475	2.596000	0.87737	0.591000	0.81541	CGC	-	superfamily_PreATP-grasp_dom		0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	C	NM_001093	rs149394526		109604769	1	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109604769	C	T	109604769	3	4	150	1	0	0	0	0	1	0	0	0	107	536	19	1	763	1	ACACB	12	109604769	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09	39516549	109604769	24247126	23	11015											
SACS	26278	genome.wustl.edu	37	chr13	23910564	23910564	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggtatgtcagcatgaCaatattttacagtggtatcc	9	9	1	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr13:23910564C>A	ENST00000382292.3	-	9	7724	c.7451G>T	c.(7450-7452)tGt>tTt	p.C2484F	SACS_ENST00000382298.3_Missense_Mutation_p.C2484F|SACS_ENST00000402364.1_Missense_Mutation_p.C1734F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2484					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)		GTCAGCATGACAATATTTTAC	0.383																																																	0								ENSG00000151835						132	127	129					13																	23910564		2203	4299	6502	SACS	SO:0001583	missense	0			-	HGNC	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.7451G>T	13.37:g.23910564C>A	ENSP00000371729:p.Cys2484Phe	Somatic	0	80	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	50	29.58	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.C2484F	ENST00000382292.3	37	c.7451	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778306	0.70107	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93547	-3.24;-3.24;-3.24	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95040	0.8394	L	0.38175	1.15	0.58432	D	0.999999	D	0.67145	0.996	D	0.74023	0.982	D	0.95601	0.8663	10	0.87932	D	0	.	19.3511	0.94387	0.0:1.0:0.0:0.0	.	2484	Q9NZJ4	SACS_HUMAN	F	2484;1734;2484	ENSP00000371729:C2484F;ENSP00000385844:C1734F;ENSP00000371735:C2484F	ENSP00000371729:C2484F	C	-	2	0	SACS	22808564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.582000	0.87167	0.561000	0.74099	TGT	-	NULL		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	C	NM_014363	-		23910564	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23910564	C	A	23910564	3	1	150	1	0	0	0	0	1	0	0	0	13812	478	17	3	6292	3	SACS	13	23910564	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09		23910564	91259314	24	11016											
MDGA2	161357	genome.wustl.edu	37	chr14	47613285	47613285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccttaattcatacctggGtaaagaatggttcataaatc	7	7	2	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr14:47613285G>A	ENST00000399232.2	-	4	945	c.581C>T	c.(580-582)aCc>aTc	p.T194I	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.T263I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	194	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCATACCTGGGTAAAGAATGG	0.418																																																	0								ENSG00000272781						125	108	113					14																	47613285		692	1591	2283	MDGA2	SO:0001583	missense	0			-	Uniprot_gn	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.581C>T	14.37:g.47613285G>A	ENSP00000382178:p.Thr194Ile	Somatic	0	58	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	F6W3S7|J3KPX6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.T263I	ENST00000399232.2	37	c.788		14	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624987	0.87560	.	.	ENSG00000139915	ENST00000439988;ENST00000399232	T;T	0.03124	4.04;4.04	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000065	T	0.16428	0.0395	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00561	-1.1670	10	0.31617	T	0.26	.	18.4708	0.90774	0.0:0.0:1.0:0.0	.	194	Q7Z553	MDGA2_HUMAN	I	194;263	ENSP00000400011:T194I;ENSP00000382178:T263I	ENSP00000382178:T263I	T	-	2	0	MDGA2	46683035	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.378000	0.97191	2.718000	0.92993	0.585000	0.79938	ACC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	protein_coding	OTTHUMT00000073352.5	G	NM_182830	-		47613285	-1	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47613285	G	A	47613285	3	1	150	1	0	0	0	0	1	0	0	0	9409	1261	44	2	2345	2	MDGA2	14	47613285	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09		47613285	59736255	25	11017											
DACT1	51339	genome.wustl.edu	37	chr14	59112535	59112535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaagaattcgaaacaggcGtgtctgccctctggcgggat	12	10	2	1	rs111351020		TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr14:59112535G>A	ENST00000335867.4	+	4	1218	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	DACT1_ENST00000556859.1_Silent_p.A117A|DACT1_ENST00000395153.3_Silent_p.A361A|DACT1_ENST00000541264.2_Silent_p.A117A			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	398					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGAAACAGGCGTGTCTGCCCT	0.552																																																	0								ENSG00000165617						68	72	70					14																	59112535		2203	4300	6503	DACT1	SO:0001819	synonymous_variant	0			-	HGNC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1194G>A	14.37:g.59112535G>A		Somatic	0	73	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	49	24.62	A8MYJ2|Q86TY0	Silent	SNP							NULL	p.A398	ENST00000335867.4	37	c.1194	CCDS9736.1	14																																																																																			-	NULL		0.552	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	G	NM_016651	rs111351020		59112535	1	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	SNP	0.000	A	A	59112535	G	A	59112535	2	1	150	1	0	0	0	0	0	0	0	1	4224	1132	40	1		1	DACT1	14	59112535	Silent	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	11499250	59112535	48237005	26	11018											
STON2	85439	genome.wustl.edu	37	chr14	81862486	81862486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctctcggactggtctgggGaagatgacagtcctgggagg	17	8	2	2	rs565577061		TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr14:81862486G>T	ENST00000267540.2	-	2	325	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	STON2_ENST00000555447.1_Missense_Mutation_p.S42Y	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	42					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTGGTCTGGGGAAGATGACAG	0.572																																																	0								ENSG00000140022						64	56	59					14																	81862486		2203	4300	6503	STON2	SO:0001583	missense	0			-	HGNC	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.125C>A	14.37:g.81862486G>T	ENSP00000267540:p.Ser42Tyr	Somatic	0	26	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.30	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP							pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S42Y	ENST00000267540.2	37	c.125	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589670	0.46214	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540;ENST00000557055	T;T;D	0.84298	0.5;0.5;-1.83	5.52	4.61	0.57282	Stonin-2, N-terminal (1);	0.288478	0.33854	N	0.004495	T	0.78521	0.4296	L	0.31926	0.97	0.30698	N	0.750613	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.14578	0.011;0.007;0.006	T	0.75569	-0.3272	10	0.54805	T	0.06	-10.3539	12.7154	0.57111	0.0:0.0:0.8252:0.1748	.	42;42;42	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	Y	42;54;42;42	ENSP00000450857:S42Y;ENSP00000267540:S42Y;ENSP00000450990:S42Y	ENSP00000267540:S42Y	S	-	2	0	STON2	80932239	1.000000	0.71417	0.945000	0.38365	0.988000	0.76386	3.684000	0.54671	1.288000	0.44600	0.643000	0.83706	TCC	-	pfam_Stonin2_N,pirsf_Stonin		0.572	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	protein_coding	OTTHUMT00000413317.1	G	NM_033104	-		81862486	-1	no_errors	ENST00000267540	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81862486	G	T	81862486	3	4	150	1	0	0	0	0	1	0	0	0	15325	1174	41	3	2606	3	STON2	14	81862486	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	22749951	81862486	25487054	27	11019											
BAIAP3	8938	genome.wustl.edu	37	chr16	1391868	1391868	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcacctggacatctgGtacaggcccctgcgccatgc	11	16	1	0			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr16:1391868G>C	ENST00000324385.5	+	9	1039		c.e9+1		BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGACATCTGGTACAGGCCCC	0.667																																																	0								ENSG00000007516						54	63	60					16																	1391868		2198	4299	6497	BAIAP3	SO:0001630	splice_region_variant	0			-	HGNC	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.881+1G>C	16.37:g.1391868G>C		Somatic	0	72	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	87	13.86	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	SNP							-	e9+1	ENST00000324385.5	37	c.881+1	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866487	0.32977	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7002	0.77536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP3	1331869	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.993000	0.88291	2.381000	0.81170	0.305000	0.20034	.	-	-		0.667	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	protein_coding	OTTHUMT00000109056.3	G		-	Intron	1391868	1	no_errors	ENST00000324385	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	1391868	G	C	1391868	5	2	150	1	0	0	0	0	0	0	1	0	1304	1275	44	4	916	4	BAIAP3	16	1391868	Splice_Site	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09		1391868	88962885	28	11020											
NAGPA	51172	genome.wustl.edu	37	chr16	5078957	5078957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccatccaggttgatggCgttgaccacgtcctgtttca	9	14	1	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr16:5078957C>T	ENST00000312251.3	-	5	863	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank|NAGPA_ENST00000381955.3_Missense_Mutation_p.A282T	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	282					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)	AGGTTGATGGCGTTGACCACG	0.597																																																	0								ENSG00000103174						142	123	130					16																	5078957		2197	4300	6497	NAGPA	SO:0001583	missense	0			-	HGNC	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.844G>A	16.37:g.5078957C>T	ENSP00000310998:p.Ala282Thr	Somatic	0	26	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50	B2RAS1|Q96EJ8	Missense_Mutation	SNP							pfam_DUF2233,pfscan_EG-like_dom	p.A282T	ENST00000312251.3	37	c.844	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.805560	0.96967	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.67171	-0.25;0.0	5.45	5.45	0.79879	.	0.108387	0.64402	D	0.000007	D	0.87525	0.6199	H	0.94582	3.555	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.90622	0.4560	10	0.72032	D	0.01	-33.1673	19.2854	0.94067	0.0:1.0:0.0:0.0	.	282;282;282	Q9UK23-3;Q9UK23;Q9UK23-2	.;NAGPA_HUMAN;.	T	282	ENSP00000310998:A282T;ENSP00000371381:A282T	ENSP00000310998:A282T	A	-	1	0	NAGPA	5018958	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.712000	0.84684	2.556000	0.86216	0.561000	0.74099	GCC	-	pfam_DUF2233		0.597	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	protein_coding	OTTHUMT00000207003.1	C	NM_016256	-		5078957	-1	no_errors	ENST00000312251	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5078957	C	T	5078957	3	4	150	1	0	0	0	0	1	0	0	0	10146	768	27	1	727	1	NAGPA	16	5078957	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09	3687089	5078957	85275796	29	11021											
GPRC5B	51704	genome.wustl.edu	37	chr16	19883143	19883143	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccactttacctgcaTtgtgttcatccatggagaag	10	10	1	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr16:19883143T>A	ENST00000300571.2	-	2	1216	c.1025A>T	c.(1024-1026)aAt>aTt	p.N342I	GPRC5B_ENST00000535671.1_Missense_Mutation_p.N342I|GPRC5B_ENST00000537135.1_Missense_Mutation_p.N368I|GPRC5B_ENST00000569479.1_Missense_Mutation_p.N342I|GPRC5B_ENST00000569847.1_Missense_Mutation_p.N342I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	342					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						TTTACCTGCATTGTGTTCATC	0.597																																																	0								ENSG00000167191						91	88	89					16																	19883143		2197	4300	6497	GPRC5B	SO:0001583	missense	0			-	HGNC	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.1025A>T	16.37:g.19883143T>A	ENSP00000300571:p.Asn342Ile	Somatic	0	48	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.39	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.N368I	ENST00000300571.2	37	c.1103	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289452	0.40494	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27402	1.68;1.67;1.67	4.99	-1.63	0.08345	.	0.306075	0.33875	N	0.004463	T	0.29588	0.0738	L	0.46157	1.445	0.35574	D	0.805721	D;P	0.54047	0.964;0.883	P;P	0.49752	0.621;0.499	T	0.28038	-1.0056	9	.	.	.	.	9.9184	0.41448	0.0:0.4417:0.0:0.5583	.	368;342	B7Z831;Q9NZH0	.;GPC5B_HUMAN	I	342;342;191;368	ENSP00000300571:N342I;ENSP00000442858:N342I;ENSP00000441775:N368I	.	N	-	2	0	GPRC5B	19790644	0.453000	0.25721	0.018000	0.16275	0.829000	0.46940	0.770000	0.26618	-0.501000	0.06605	0.533000	0.62120	AAT	-	NULL		0.597	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	protein_coding	OTTHUMT00000254285.1	T		-		19883143	-1	no_errors	ENST00000537135	ensembl	human	known	74_37	missense	SNP	0.409	A	A	19883143	T	A	19883143	3	1	150	1	0	0	0	0	1	0	0	0	6727	1493	52	5	198	5	GPRC5B	16	19883143	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09	14804186	19883143	70471610	30	11022											
GLOD4	51031	genome.wustl.edu	37	chr17	673297	673297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttacagggtcggccagaAtgaccacctgtactgttgct	10	11	0	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr17:673297A>C	ENST00000301328.5	-	8	799	c.776T>G	c.(775-777)aTt>aGt	p.I259S	GLOD4_ENST00000536578.1_Missense_Mutation_p.I235S|GLOD4_ENST00000301329.6_Missense_Mutation_p.I244S			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	259						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCGGCCAGAATGACCACCTG	0.507																																																	0								ENSG00000167699						68	62	64					17																	673297		2203	4300	6503	GLOD4	SO:0001583	missense	0			-	HGNC	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.776T>G	17.37:g.673297A>C	ENSP00000301328:p.Ile259Ser	Somatic	0	72	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP							NULL	p.I259S	ENST00000301328.5	37	c.776		17	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019451	0.75275	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.38240	1.15;1.15;1.15	5.79	5.79	0.91817	.	0.092466	0.64402	D	0.000001	T	0.68476	0.3005	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.989	T	0.74538	-0.3632	10	0.42905	T	0.14	-6.2426	15.3033	0.73972	1.0:0.0:0.0:0.0	.	235;259;244	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	S	244;447;259;235	ENSP00000301329:I244S;ENSP00000301328:I259S;ENSP00000444315:I235S	ENSP00000301328:I259S	I	-	2	0	GLOD4	620047	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	8.963000	0.93385	2.198000	0.70561	0.533000	0.62120	ATT	-	NULL		0.507	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	protein_coding	OTTHUMT00000437190.1	A	NM_016080	-		673297	-1	no_errors	ENST00000301328	ensembl	human	known	74_37	missense	SNP	1.000	C	C	673297	A	C	673297	3	2	150	1	0	0	0	0	1	0	0	0	6452	101	4	5	177	5	GLOD4	17	673297	Missense_Mutation	SNP	A	TCGA-IE-A3OV-01A-11D-A228-09		673297	80521913	31	11023											
ABCA5	23461	genome.wustl.edu	37	chr17	67266783	67266783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtactccagatctggaTggtttcagtcacatttaaat	10	7	3	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr17:67266783T>G	ENST00000392676.3	-	22	3065	c.3001A>C	c.(3001-3003)Atc>Ctc	p.I1001L	ABCA5_ENST00000392677.2_Missense_Mutation_p.I1002L|ABCA5_ENST00000588877.1_Missense_Mutation_p.I1001L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1001					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CAGATCTGGATGGTTTCAGTC	0.294																																																	0								ENSG00000154265						122	138	133					17																	67266783		2203	4281	6484	ABCA5	SO:0001583	missense	0			-	HGNC	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3001A>C	17.37:g.67266783T>G	ENSP00000376443:p.Ile1001Leu	Somatic	0	47	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1002L	ENST00000392676.3	37	c.3004	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755743	0.89843	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87729	-2.29;-2.29	5.45	5.45	0.79879	.	0.096119	0.46145	D	0.000311	D	0.93478	0.7919	M	0.82823	2.61	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.93838	0.7134	9	.	.	.	.	14.4987	0.67707	0.0:0.0:0.0:1.0	.	1001	Q8WWZ7	ABCA5_HUMAN	L	1002;1001	ENSP00000376444:I1002L;ENSP00000376443:I1001L	.	I	-	1	0	ABCA5	64778378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.716000	0.68437	2.062000	0.61559	0.482000	0.46254	ATC	-	NULL		0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	protein_coding	OTTHUMT00000450654.1	T	NM_018672	-		67266783	-1	no_errors	ENST00000392677	ensembl	human	known	74_37	missense	SNP	0.998	G	G	67266783	T	G	67266783	3	3	150	1	0	0	0	0	1	0	0	0	35	1464	51	5	1999	5	ABCA5	17	67266783	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09	66593486	67266783	13928427	32	11024											
CXXC1	30827	genome.wustl.edu	37	chr18	47811580	47811580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggcagtggccggcggGgccttggcagggactctgag	22	9	1	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr18:47811580G>A	ENST00000285106.6	-	7	1418	c.704C>T	c.(703-705)cCc>cTc	p.P235L	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.P235L|CXXC1_ENST00000412036.2_Missense_Mutation_p.P235L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	235				P -> S (in Ref. 4; BAG37400). {ECO:0000305}.	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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGGCCGGCGGGGCCTTGGCAG	0.657																																																	0								ENSG00000154832						30	29	29					18																	47811580		2203	4300	6503	CXXC1	SO:0001583	missense	0			-	HGNC	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.704C>T	18.37:g.47811580G>A	ENSP00000285106:p.Pro235Leu	Somatic	0	98	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP							pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P235L	ENST00000285106.6	37	c.704	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	G	2.088	-0.409079	0.04799	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.22336	1.97;1.96	3.65	3.65	0.41850	.	0.400713	0.21586	N	0.072174	T	0.22399	0.0540	N	0.14661	0.345	0.46901	D	0.999244	P;P;B	0.51449	0.945;0.909;0.0	P;P;B	0.59056	0.851;0.713;0.0	T	0.02736	-1.1117	10	0.27785	T	0.31	-9.3593	11.5216	0.50553	0.0:0.0:1.0:0.0	.	235;235;102	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	L	235	ENSP00000285106:P235L;ENSP00000390475:P235L	ENSP00000285106:P235L	P	-	2	0	CXXC1	46065578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.021000	0.49651	1.991000	0.58162	0.542000	0.68232	CCC	-	NULL		0.657	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	protein_coding	OTTHUMT00000255927.2	G	NM_014593	-		47811580	-1	no_errors	ENST00000412036	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47811580	G	A	47811580	3	1	150	1	0	0	0	0	1	0	0	0	4099	1232	43	2	1314	2	CXXC1	18	47811580	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09		47811580	30265668	33	11025											
SERPINB3	6317	genome.wustl.edu	37	chr18	61324115	61324115	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caacacaatcatgcttagatCtttgcctttgtatggtattt	6	8	2	1	rs61733410	byFrequency	TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr18:61324115C>A	ENST00000283752.5	-	7	861	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	240					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGCTTAGATCTTTGCCTTTG	0.423																																																	0								ENSG00000057149						229	200	210					18																	61324115		2203	4300	6503	SERPINB3	SO:0001583	missense	0			-	HGNC	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.718G>T	18.37:g.61324115C>A	ENSP00000283752:p.Asp240Tyr	Somatic	0	75	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	55	25.68	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D240Y	ENST00000283752.5	37	c.718	CCDS11987.1	18	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719847	0.30503	.	.	ENSG00000057149	ENST00000283752	D	0.85088	-1.94	2.64	2.64	0.31445	Serpin domain (3);	0.527334	0.15765	N	0.245740	D	0.93086	0.7799	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66602	0.945;0.945	D	0.94300	0.7536	10	0.87932	D	0	.	13.4002	0.60879	0.0:1.0:0.0:0.0	.	240;240	P29508;Q5K684	SPB3_HUMAN;.	Y	240	ENSP00000283752:D240Y	ENSP00000283752:D240Y	D	-	1	0	SERPINB3	59475095	0.002000	0.14202	0.009000	0.14445	0.254000	0.26022	0.933000	0.28897	1.800000	0.52685	0.455000	0.32223	GAT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.423	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	protein_coding	OTTHUMT00000133791.1	C	NM_006919	-		61324115	-1	no_errors	ENST00000283752	ensembl	human	known	74_37	missense	SNP	0.055	A	A	61324115	C	A	61324115	3	1	150	1	0	0	0	0	1	0	0	0	14110	913	32	3	462	3	SERPINB3	18	61324115	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09	13512535	61324115	16753133	34	11026											
ZNF429	353088	genome.wustl.edu	37	chr19	21719972	21719972	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagccctacaaatgtgaaGaatgtggcaaagcttttaac	9	7	0	3			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr19:21719972G>A	ENST00000358491.4	+	4	1325	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	373					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAATGTGAAGAATGTGGCAA	0.368																																																	0								ENSG00000197013						41	46	44					19																	21719972		2110	4265	6375	ZNF429	SO:0001583	missense	0			-	HGNC	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1117G>A	19.37:g.21719972G>A	ENSP00000351280:p.Glu373Lys	Somatic	0	21	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26	A6NLV7|Q9BZE6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E373K	ENST00000358491.4	37	c.1117	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238858	0.22711	.	.	ENSG00000197013	ENST00000358491	T	0.07327	3.2	0.876	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.20845	0.615	0.09310	N	1	P	0.38129	0.619	B	0.40199	0.322	T	0.40887	-0.9539	9	0.59425	D	0.04	.	7.4658	0.27320	0.0:0.27:0.7299:0.0	.	373	Q86V71	ZN429_HUMAN	K	373	ENSP00000351280:E373K	ENSP00000351280:E373K	E	+	1	0	ZNF429	21511812	0.000000	0.05858	0.697000	0.30258	0.699000	0.40488	-0.563000	0.05943	0.293000	0.22520	0.298000	0.19748	GAA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	protein_coding	OTTHUMT00000463981.1	G	NM_001001415	-		21719972	1	no_errors	ENST00000358491	ensembl	human	novel	74_37	missense	SNP	0.040	A	A	21719972	G	A	21719972	3	1	150	1	0	0	0	0	1	0	0	0	17909	943	33	2	1131	2	ZNF429	19	21719972	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09		21719972	37409011	35	11027											
ZNF790	388536	genome.wustl.edu	37	chr19	37309350	37309350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatttcacaagagtgaaatGaagtgagagcttgaagaaaa	10	3	1	6			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr19:37309350G>A	ENST00000356725.4	-	5	2016	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	632					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGTGAAATGAAGTGAGAGC	0.308																																																	0								ENSG00000197863						35	39	37					19																	37309350		2201	4294	6495	ZNF790	SO:0001819	synonymous_variant	0			-	HGNC	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1896C>T	19.37:g.37309350G>A		Somatic	0	52	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00		Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F632	ENST00000356725.4	37	c.1896	CCDS12496.1	19																																																																																			-	NULL		0.308	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	protein_coding	OTTHUMT00000385341.2	G	NM_206894	-		37309350	-1	no_errors	ENST00000356725	ensembl	human	known	74_37	silent	SNP	0.036	A	A	37309350	G	A	37309350	2	1	150	1	0	0	0	0	0	0	0	1	18169	1281	45	2		2	ZNF790	19	37309350	Silent	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	15589378	37309350	21819633	36	11028											
SYT3	84258	genome.wustl.edu	37	chr19	51132748	51132748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacgtctcattgaagacggGgttcagggtcttcctgtgca	12	9	3	2			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr19:51132748G>T	ENST00000338916.4	-	4	1717	c.1084C>A	c.(1084-1086)Ccc>Acc	p.P362T	SYT3_ENST00000544769.1_Missense_Mutation_p.P362T|SYT3_ENST00000600079.1_Missense_Mutation_p.P362T|SYT3_ENST00000593901.1_Missense_Mutation_p.P362T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	362	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGAAGACGGGGTTCAGGGTC	0.607																																																	0								ENSG00000213023						87	94	92					19																	51132748		2203	4300	6503	SYT3	SO:0001583	missense	0			-	HGNC	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1084C>A	19.37:g.51132748G>T	ENSP00000340914:p.Pro362Thr	Somatic	0	53	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	Q8N5Z1|Q8N640	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.P362T	ENST00000338916.4	37	c.1084	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478185	0.84747	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	D;D	0.91295	-2.82;-2.82	4.43	4.43	0.53597	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000010	D	0.97362	0.9137	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99264	1.0891	10	0.87932	D	0	.	16.1835	0.81929	0.0:0.0:1.0:0.0	.	362	Q9BQG1	SYT3_HUMAN	T	362	ENSP00000340914:P362T;ENSP00000438883:P362T	ENSP00000340914:P362T	P	-	1	0	SYT3	55824560	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.666000	0.83877	2.183000	0.69458	0.655000	0.94253	CCC	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom		0.607	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	protein_coding	OTTHUMT00000464910.1	G	NM_032298	-		51132748	-1	no_errors	ENST00000338916	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51132748	G	T	51132748	3	4	150	1	0	0	0	0	1	0	0	0	15482	1232	43	3	708	3	SYT3	19	51132748	Missense_Mutation	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	13823398	51132748	7996235	37	11029											
TSSK2	23617	genome.wustl.edu	37	chr22	19119283	19119283	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagctctcctccgccgTcaagtactgccacgacctgg	9	18	2	0			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr22:19119283T>G	ENST00000399635.2	+	1	963	c.371T>G	c.(370-372)gTc>gGc	p.V124G	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCCTCCGCCGTCAAGTACTGC	0.587																																																	0								ENSG00000206203						120	97	105					22																	19119283		2203	4300	6503	TSSK2	SO:0001583	missense	0			-	HGNC	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.371T>G	22.37:g.19119283T>G	ENSP00000382544:p.Val124Gly	Somatic	0	13	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	Q8IY55	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V124G	ENST00000399635.2	37	c.371	CCDS13755.1	22	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245648	0.39697	.	.	ENSG00000206203	ENST00000399635	D	0.84370	-1.84	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143157	0.32134	N	0.006537	D	0.90487	0.7020	M	0.89968	3.075	0.58432	D	0.999992	B	0.33448	0.412	B	0.42798	0.398	D	0.91427	0.5163	10	0.87932	D	0	.	14.5657	0.68173	0.0:0.0:0.0:1.0	.	124	Q96PF2	TSSK2_HUMAN	G	124	ENSP00000382544:V124G	ENSP00000382544:V124G	V	+	2	0	TSSK2	17499283	1.000000	0.71417	0.998000	0.56505	0.419000	0.31324	4.188000	0.58351	2.082000	0.62665	0.533000	0.62120	GTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.587	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	protein_coding	OTTHUMT00000316431.1	T		-		19119283	1	no_errors	ENST00000399635	ensembl	human	known	74_37	missense	SNP	1.000	G	G	19119283	T	G	19119283	3	3	150	1	0	0	0	0	1	0	0	0	16676	1667	58	5	373	5	TSSK2	22	19119283	Missense_Mutation	SNP	T	TCGA-IE-A3OV-01A-11D-A228-09		19119283	32185283	38	11030											
MYO18B	84700	genome.wustl.edu	37	chr22	26159314	26159314	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaaagaggccaaggaagcGagacagaggaagcagttagc	15	6	0	3			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr22:26159314G>A	ENST00000407587.2	+	3	325	c.156G>A	c.(154-156)gcG>gcA	p.A52A	MYO18B_ENST00000536101.1_Silent_p.A52A|MYO18B_ENST00000335473.7_Silent_p.A52A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	52						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CCAAGGAAGCGAGACAGAGGA	0.542																																																	0								ENSG00000133454						36	39	38					22																	26159314		1943	4143	6086	MYO18B	SO:0001819	synonymous_variant	0			-	HGNC	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.156G>A	22.37:g.26159314G>A		Somatic	0	40	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	53.49	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A52	ENST00000407587.2	37	c.156		22																																																																																			-	NULL		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	G	NM_032608	-		26159314	1	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	SNP	0.000	A	A	26159314	G	A	26159314	2	1	150	1	0	0	0	0	0	0	0	1	10068	1045	37	1		1	MYO18B	22	26159314	Silent	SNP	G	TCGA-IE-A3OV-01A-11D-A228-09	7040031	26159314	25145252	39	11031											
MYO18B	84700	genome.wustl.edu	37	chr22	26164163	26164163	+	Frame_Shift_Del	DEL	G	G	-													gccagcagatctctcaggacGaccagtcaagctctcctggg							TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr22:26164163delG	ENST00000407587.2	+	4	449	c.280delG	c.(280-282)gacfs	p.D94fs	MYO18B_ENST00000536101.1_Frame_Shift_Del_p.D94fs|MYO18B_ENST00000335473.7_Frame_Shift_Del_p.D94fs			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	94	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						CTCTCAGGACGACCAGTCAAG	0.557																																																	0								ENSG00000133454						112	118	116					22																	26164163		1999	4172	6171	MYO18B	SO:0001589	frameshift_variant	0				HGNC	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.280delG	22.37:g.26164163delG	ENSP00000386096:p.Asp94fs	Somatic	0	50	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Frame_Shift_Del	DEL							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D94fs	ENST00000407587.2	37	c.280		22																																																																																			-	NULL		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	G	NM_032608			26164163	1	no_errors	ENST00000335473	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	26164163	G	-	26164163	7	5	150	1	0	1	0	1	0	0	0	0	10068	1058	37	0	290	0	MYO18B	22	26164163	Frame_Shift_Del	DEL	G	TCGA-IE-A3OV-01A-11D-A228-09	4849	26164163	25140403	40	11032											
KLHDC7B	113730	genome.wustl.edu	37	chr22	50987890	50987890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgcctggaccccacgcgCgccactccccgcaggcacct	10	21	0	1			TCGA-IE-A3OV-01A-11D-A228-09	TCGA-IE-A3OV-11A-22D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c52a1b8-fc8a-4df4-b1c2-c5154ef2c8c0	482bbe0c-c0a1-46f8-a7d9-6e98423cf2d8	g.chr22:50987890C>T	ENST00000395676.2	+	1	1429	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432								p.A333V(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCCACGCGCGCCACTCCCC	0.672																																																	1	Substitution - Missense(1)	cervix(1)						ENSG00000130487						73	75	74					22																	50987890		2201	4298	6499	KLHDC7B	SO:0001583	missense	0			-	HGNC	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1295C>T	22.37:g.50987890C>T	ENSP00000379034:p.Ala432Val	Somatic	0	33	0		0.687445205499241				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67		Missense_Mutation	SNP							pfam_Kelch_1,smart_Kelch_1	p.A432V	ENST00000395676.2	37	c.1295	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218684	0.58560	.	.	ENSG00000130487	ENST00000395676	T	0.80304	-1.36	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000918	D	0.89203	0.6648	M	0.80982	2.52	0.35711	D	0.816394	D	0.89917	1.0	D	0.91635	0.999	D	0.92898	0.6337	10	0.87932	D	0	.	13.0304	0.58839	0.1623:0.8376:0.0:0.0	.	432	Q96G42	KLD7B_HUMAN	V	432	ENSP00000379034:A432V	ENSP00000379034:A432V	A	+	2	0	KLHDC7B	49334756	1.000000	0.71417	0.456000	0.27044	0.083000	0.17756	7.596000	0.82721	1.231000	0.43661	0.491000	0.48974	GCG	-	pfam_Kelch_1,smart_Kelch_1		0.672	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	protein_coding	OTTHUMT00000317089.2	C	NM_138433	-		50987890	1	no_errors	ENST00000395676	ensembl	human	known	74_37	missense	SNP	0.986	T	T	50987890	C	T	50987890	3	4	150	1	0	0	0	0	1	0	0	0	8363	768	27	1	1297	1	KLHDC7B	22	50987890	Missense_Mutation	SNP	C	TCGA-IE-A3OV-01A-11D-A228-09	24823727	50987890	316676	41	11033											
SGIP1	84251	genome.wustl.edu	37	chr1	67142719	67142719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgagatatggggttcaGgccaaccaattaatccaagc	10	10	1	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr1:67142719G>T	ENST00000371037.4	+	13	756	c.679G>T	c.(679-681)Ggc>Tgc	p.G227C	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.G231C|AL139147.1_ENST00000502413.2_5'Flank|SGIP1_ENST00000371035.3_Missense_Mutation_p.G184C|SGIP1_ENST00000371036.3_Missense_Mutation_p.G194C|SGIP1_ENST00000371039.1_Missense_Mutation_p.G195C	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	227	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGGGGTTCAGGCCAACCAAT	0.388																																																	0								ENSG00000118473						120	120	120					1																	67142719		2203	4300	6503	SGIP1	SO:0001583	missense	0			-	HGNC	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.679G>T	1.37:g.67142719G>T	ENSP00000360076:p.Gly227Cys	Somatic	0	28	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP							pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.G231C	ENST00000371037.4	37	c.691	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377353	0.61735	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96;3.96	5.35	4.44	0.53790	.	0.354548	0.33515	N	0.004825	T	0.01287	0.0042	N	0.14661	0.345	0.38778	D	0.954704	P	0.40000	0.698	B	0.40329	0.326	T	0.60816	-0.7188	10	0.54805	T	0.06	-7.3616	10.1944	0.43045	0.072:0.0:0.792:0.136	.	227	Q9BQI5	SGIP1_HUMAN	C	231;195;219;184;230;230;194;227	ENSP00000237247:G231C;ENSP00000360078:G195C;ENSP00000410439:G219C;ENSP00000360074:G184C;ENSP00000360075:G194C;ENSP00000360076:G227C	ENSP00000237247:G231C	G	+	1	0	SGIP1	66915307	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.135000	0.50546	1.256000	0.44068	0.655000	0.94253	GGC	-	NULL		0.388	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	protein_coding	OTTHUMT00000025395.4	G	NM_032291	-		67142719	1	no_errors	ENST00000237247	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67142719	G	T	67142719	3	4	151	1	0	0	0	0	1	0	0	0	14214	1000	35	3	729	3	SGIP1	1	67142719	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		67142719	182107902	1	11034											
CLCA2	9635	genome.wustl.edu	37	chr1	86913457	86913457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagactccttgatgatggAgcaggtaacaaggaatgtca	12	7	1	3			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr1:86913457A>G	ENST00000370565.4	+	11	2142	c.1980A>G	c.(1978-1980)ggA>ggG	p.G660G		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	660					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTGATGATGGAGCAGGTAACA	0.413																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0								ENSG00000137975						59	56	57					1																	86913457		2203	4300	6503	CLCA2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1980A>G	1.37:g.86913457A>G		Somatic	0	67	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	A8K2T3|Q9Y6N2	Silent	SNP							pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.G660	ENST00000370565.4	37	c.1980	CCDS708.1	1																																																																																			-	pfam_DUF1973,tigrfam_CaCC_prot		0.413	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	protein_coding	OTTHUMT00000028284.1	A	NM_006536	-		86913457	1	no_errors	ENST00000370565	ensembl	human	known	74_37	silent	SNP	0.998	G	G	86913457	A	G	86913457	2	3	151	1	0	0	0	0	0	0	0	1	3460	291	11	5		5	CLCA2	1	86913457	Silent	SNP	A	TCGA-IE-A4EH-01A-11D-A24N-09	19770738	86913457	162337164	2	11035											
NCK2	8440	genome.wustl.edu	37	chr2	106471560	106471560	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatagccaagtgggactacaCcgcccagcaggaccaggagc	13	13	0	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr2:106471560C>G	ENST00000233154.4	+	3	483	c.41C>G	c.(40-42)aCc>aGc	p.T14S	AC009505.2_ENST00000598281.1_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.T14S|AC009505.2_ENST00000596418.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.T14S|NCK2_ENST00000522586.1_Missense_Mutation_p.T14S	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	14	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						TGGGACTACACCGCCCAGCAG	0.542																																																	0								ENSG00000071051						92	89	90					2																	106471560		2203	4300	6503	NCK2	SO:0001583	missense	0			-	HGNC	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.41C>G	2.37:g.106471560C>G	ENSP00000233154:p.Thr14Ser	Somatic	0	42	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	19	57.78	D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.T14S	ENST00000233154.4	37	c.41	CCDS33266.1	2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049851	0.55218	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.77;0.76	5.7	5.7	0.88788	Src homology-3 domain (5);	0.048137	0.85682	D	0.000000	T	0.42426	0.1202	L	0.41356	1.27	0.80722	D	1	B;B	0.21452	0.014;0.056	B;B	0.29077	0.038;0.098	T	0.32824	-0.9892	10	0.07175	T	0.84	.	19.8253	0.96616	0.0:1.0:0.0:0.0	.	14;14	E7ERP6;O43639	.;NCK2_HUMAN	S	14	ENSP00000233154:T14S;ENSP00000410428:T14S;ENSP00000377017:T14S;ENSP00000431109:T14S;ENSP00000408040:T14S;ENSP00000377018:T14S	ENSP00000233154:T14S	T	+	2	0	NCK2	105837992	0.996000	0.38824	0.960000	0.40013	0.992000	0.81027	3.463000	0.53050	2.676000	0.91093	0.650000	0.86243	ACC	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain		0.542	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	protein_coding	OTTHUMT00000329634.1	C	NM_003581	-		106471560	1	no_errors	ENST00000233154	ensembl	human	known	74_37	missense	SNP	0.997	G	G	106471560	C	G	106471560	3	3	151	1	0	0	0	0	1	0	0	0	10222	507	18	4	43	4	NCK2	2	106471560	Missense_Mutation	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09		106471560	136727813	3	11036											
ANAPC1	64682	genome.wustl.edu	37	chr2	112536331	112536331	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagtactgaagaaaagagaTccagaatttcctgtttctgc	9	7	1	5			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr2:112536331T>A	ENST00000341068.3	-	45	6078	c.5306A>T	c.(5305-5307)gAt>gTt	p.D1769V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1769					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGAAAAGAGATCCAGAATTTC	0.383																																																	0								ENSG00000153107						57	53	55					2																	112536331		2200	4294	6494	ANAPC1	SO:0001583	missense	0			-	HGNC	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5306A>T	2.37:g.112536331T>A	ENSP00000339109:p.Asp1769Val	Somatic	0	159	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	78	43.48	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP							NULL	p.D1769V	ENST00000341068.3	37	c.5306	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	T	7.986	0.752153	0.15778	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.05	4.05	0.47172	.	0.109079	0.36167	N	0.002749	T	0.44623	0.1302	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33879	-0.9851	9	0.28530	T	0.3	-8.3828	8.8988	0.35481	0.0:0.0904:0.0:0.9096	.	1769	Q9H1A4	APC1_HUMAN	V	1769	.	ENSP00000339109:D1769V	D	-	2	0	ANAPC1	112252802	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.710000	0.47169	1.585000	0.49928	0.454000	0.30748	GAT	-	NULL		0.383	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	protein_coding	OTTHUMT00000254045.2	T	NM_022662	-		112536331	-1	no_errors	ENST00000341068	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112536331	T	A	112536331	3	1	151	1	0	0	0	0	1	0	0	0	598	1435	50	5	544	5	ANAPC1	2	112536331	Missense_Mutation	SNP	T	TCGA-IE-A4EH-01A-11D-A24N-09	6064771	112536331	130663042	4	11037											
LRP2	4036	genome.wustl.edu	37	chr2	169999283	169999283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagaggtggctgcagaTctgtttgcaaaggttgggca	16	6	1	2			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr2:169999283T>C	ENST00000263816.3	-	71	13294	c.13009A>G	c.(13009-13011)Atc>Gtc	p.I4337V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4337	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGGCTGCAGATCTGTTTGCAA	0.542																																																	0								ENSG00000081479						118	113	115					2																	169999283		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13009A>G	2.37:g.169999283T>C	ENSP00000263816:p.Ile4337Val	Somatic	0	66	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	45	35.71	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I4337V	ENST00000263816.3	37	c.13009	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560837	0.03939	.	.	ENSG00000081479	ENST00000263816	D	0.89196	-2.48	5.86	2.09	0.27110	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.318407	0.33127	N	0.005252	T	0.58524	0.2128	N	0.00146	-1.995	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.49485	-0.8935	10	0.12430	T	0.62	.	9.3347	0.38043	0.0:0.7346:0.0:0.2654	.	4337	P98164	LRP2_HUMAN	V	4337	ENSP00000263816:I4337V	ENSP00000263816:I4337V	I	-	1	0	LRP2	169707529	0.212000	0.23540	0.156000	0.22583	0.109000	0.19521	0.753000	0.26376	0.175000	0.19841	-0.924000	0.02725	ATC	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.542	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	T	NM_004525	-		169999283	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	0.636	C	C	169999283	T	C	169999283	3	2	151	1	0	0	0	0	1	0	0	0	8958	1435	50	5	994	5	LRP2	2	169999283	Missense_Mutation	SNP	T	TCGA-IE-A4EH-01A-11D-A24N-09	57462952	169999283	73200090	5	11038											
IQCA1	79781	genome.wustl.edu	37	chr2	237402482	237402482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcttccttttattacttCcaacttctccttcaaaaaat	0	13	3	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr2:237402482C>T	ENST00000409907.3	-	3	659	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	IQCA1_ENST00000309507.5_Missense_Mutation_p.E125K|IQCA1_ENST00000431676.2_Missense_Mutation_p.E129K	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	129							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTATTACTTCCAACTTCTCC	0.328																																																	0								ENSG00000132321						94	85	88					2																	237402482		1795	4078	5873	IQCA1	SO:0001583	missense	0			-	HGNC	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.385G>A	2.37:g.237402482C>T	ENSP00000387347:p.Glu129Lys	Somatic	0	63	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP							pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.E129K	ENST00000409907.3	37	c.385	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.568|9.568	1.120206|1.120206	0.20877|0.20877	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.94046|.	-3.19;-3.18;-3.34|.	5.05|5.05	4.11|4.11	0.48088|0.48088	.|.	0.099733|.	0.43919|.	D|.	0.000512|.	T|T	0.35682|0.35682	0.0940|0.0940	N|N	0.20881|0.20881	0.62|0.62	0.34896|0.34896	D|D	0.746043|0.746043	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.08055|.	0.003;0.003;0.003|.	T|T	0.41197|0.41197	-0.9522|-0.9522	10|5	0.09338|.	T|.	0.73|.	.|.	7.5305|7.5305	0.27681|0.27681	0.0:0.7418:0.1694:0.0888|0.0:0.7418:0.1694:0.0888	.|.	129;136;129|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	K|E	129;136;125;129;125|147	ENSP00000387347:E129K;ENSP00000311951:E125K;ENSP00000407213:E129K|.	ENSP00000254653:E129K|.	E|G	-|-	1|2	0|0	IQCA1|IQCA1	237067221|237067221	0.993000|0.993000	0.37304|0.37304	0.665000|0.665000	0.29768|0.29768	0.984000|0.984000	0.73092|0.73092	1.247000|1.247000	0.32815|0.32815	2.357000|2.357000	0.79964|0.79964	0.563000|0.563000	0.77884|0.77884	GAA|GGA	-	NULL		0.328	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	protein_coding	OTTHUMT00000329266.1	C	NM_024726	-		237402482	-1	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	SNP	0.959	T	T	237402482	C	T	237402482	3	4	151	1	0	0	0	0	1	0	0	0	7804	864	30	2	2151	2	IQCA1	2	237402482	Missense_Mutation	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09	67403199	237402482	5796891	6	11039											
SETD5	55209	genome.wustl.edu	37	chr3	9476152	9476152	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctcaggatggcttccttctCaactgtgacaagtgcaggta	10	10	2	1	rs376494447		TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr3:9476152C>T	ENST00000406341.1	+	4	502	c.312C>T	c.(310-312)ctC>ctT	p.L104L	SETD5_ENST00000407969.1_Silent_p.L123L|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000402198.1_Silent_p.L104L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	104										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GCTTCCTTCTCAACTGTGACA	0.473																																																	0								ENSG00000168137	C		0,3904		0,0,1952	95	98	97		312	4.9	1	3		97	2,8302		0,2,4150	no	coding-synonymous	SETD5	NM_001080517.1		0,2,6102	TT,TC,CC		0.0241,0.0,0.0164		104/1443	9476152	2,12206	1952	4152	6104	SETD5	SO:0001819	synonymous_variant	0			-	HGNC	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.312C>T	3.37:g.9476152C>T		Somatic	0	60	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	44	55.56	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP							pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L104	ENST00000406341.1	37	c.312	CCDS46741.1	3																																																																																			-	NULL		0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	protein_coding	OTTHUMT00000318425.1	C	XM_371614	-		9476152	1	no_errors	ENST00000402198	ensembl	human	known	74_37	silent	SNP	1.000	T	T	9476152	C	T	9476152	2	4	151	1	0	0	0	0	0	0	0	1	14142	813	29	2		2	SETD5	3	9476152	Silent	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09		9476152	188546278	7	11040											
KIF9	64147	genome.wustl.edu	37	chr3	47287688	47287688	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgggggtctctcaccTcagaaccacccggaactggt	14	12	3	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr3:47287688T>A	ENST00000265529.3	-	14	1968	c.1288A>T	c.(1288-1290)Agc>Tgc	p.S430C	KIF9_ENST00000352910.4_Splice_Site_p.S337C|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Splice_Site_p.S430C|KIF9_ENST00000335044.2_Splice_Site_p.S430C|KIF9_ENST00000452770.2_Splice_Site_p.S430C			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	430					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTCTCTCACCTCAGAACCACC	0.537																																					Colon(44;962 1147 15977 24541)												0								ENSG00000088727						68	54	59					3																	47287688		2202	4300	6502	KIF9	SO:0001630	splice_region_variant	0			-	HGNC	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1289+1A>T	3.37:g.47287688T>A		Somatic	0	74	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	31	53.73	Q86Z28|Q9H8A4	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S430C	ENST00000265529.3	37	c.1288	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654078	0.47362	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.16	5.16	0.70880	.	0.332353	0.36444	N	0.002597	T	0.54759	0.1878	L	0.44542	1.39	0.28649	N	0.90677	D;P	0.60575	0.988;0.943	P;B	0.57244	0.816;0.428	T	0.54774	-0.8243	10	0.66056	D	0.02	.	12.9933	0.58632	0.0:0.0:0.0:1.0	.	430;430	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	C	430;430;430;430;337	ENSP00000333942:S430C;ENSP00000265529:S430C;ENSP00000414987:S430C;ENSP00000391100:S430C;ENSP00000292334:S337C	ENSP00000265529:S430C	S	-	1	0	KIF9	47262692	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	3.691000	0.54720	2.174000	0.68829	0.528000	0.53228	AGC	-	NULL		0.537	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	protein_coding	OTTHUMT00000257475.2	T		-	Missense_Mutation	47287688	-1	no_errors	ENST00000265529	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47287688	T	A	47287688	5	1	151	1	0	0	0	0	0	0	1	0	8312	1565	54	5	1120	5	KIF9	3	47287688	Splice_Site	SNP	T	TCGA-IE-A4EH-01A-11D-A24N-09	37811536	47287688	150734742	8	11041											
RAD54L2	23132	genome.wustl.edu	37	chr3	51669630	51669630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatggcatctcgtgctaaAgtgatggctgattgggtgtc	14	7	1	2			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr3:51669630A>C	ENST00000409535.2	+	9	1289	c.1164A>C	c.(1162-1164)aaA>aaC	p.K388N	RAD54L2_ENST00000296477.3_Missense_Mutation_p.K82N	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	388	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTCGTGCTAAAGTGATGGCTG	0.463																																																	0								ENSG00000164080						125	112	116					3																	51669630		2203	4300	6503	RAD54L2	SO:0001583	missense	0			-	HGNC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1164A>C	3.37:g.51669630A>C	ENSP00000386520:p.Lys388Asn	Somatic	0	36	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	Q8TB57|Q9BV54	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K388N	ENST00000409535.2	37	c.1164	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.95|15.95	2.983535|2.983535	0.53827|0.53827	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93659|.	-3.26;-3.26|.	5.43|5.43	3.11|3.11	0.35812|0.35812	DEAD-like helicase (2);SNF2-related (1);|.	0.042343|.	0.85682|.	D|.	0.000000|.	T|T	0.43433|0.43433	0.1247|0.1247	L|L	0.28776|0.28776	0.89|0.89	0.52501|0.52501	D|D	0.999956|0.999956	B|.	0.30021|.	0.265|.	B|.	0.39706|.	0.307|.	T|T	0.20907|0.20907	-1.0261|-1.0261	10|5	0.36615|.	T|.	0.2|.	-2.7906|-2.7906	7.5205|7.5205	0.27624|0.27624	0.8232:0.0:0.1767:0.0|0.8232:0.0:0.1767:0.0	.|.	388|.	Q9Y4B4|.	ARIP4_HUMAN|.	N|R	388;82|217	ENSP00000386520:K388N;ENSP00000296477:K82N|.	ENSP00000296477:K82N|.	K|S	+|+	3|1	2|0	RAD54L2|RAD54L2	51644670|51644670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.708000|1.708000	0.37899|0.37899	2.069000|2.069000	0.61940|0.61940	0.533000|0.533000	0.62120|0.62120	AAA|AGT	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.463	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	protein_coding	OTTHUMT00000328700.2	A	NM_015106	-		51669630	1	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	SNP	1.000	C	C	51669630	A	C	51669630	3	2	151	1	0	0	0	0	1	0	0	0	13002	69	3	5	1194	5	RAD54L2	3	51669630	Missense_Mutation	SNP	A	TCGA-IE-A4EH-01A-11D-A24N-09	4381942	51669630	146352800	9	11042											
COL6A6	131873	genome.wustl.edu	37	chr3	130293060	130293060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggaaacacacacatcGgtgctgcactcagggaggtg	12	10	2	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr3:130293060G>A	ENST00000358511.6	+	7	3269	c.3238G>A	c.(3238-3240)Ggt>Agt	p.G1080S	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1080S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1080	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1080S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACACACATCGGTGCTGCACT	0.473																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000206384						98	98	98					3																	130293060		1998	4172	6170	COL6A6	SO:0001583	missense	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3238G>A	3.37:g.130293060G>A	ENSP00000351310:p.Gly1080Ser	Somatic	0	16	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1080S	ENST00000358511.6	37	c.3238	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481386	0.63849	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85629	-2.01;-2.01	5.0	5.0	0.66597	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000021	D	0.94079	0.8102	M	0.91510	3.215	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95184	0.8302	10	0.72032	D	0.01	.	18.2589	0.90028	0.0:0.0:1.0:0.0	.	1080	A6NMZ7	CO6A6_HUMAN	S	1080	ENSP00000351310:G1080S;ENSP00000399236:G1080S	ENSP00000351310:G1080S	G	+	1	0	COL6A6	131775750	1.000000	0.71417	0.687000	0.30102	0.021000	0.10359	9.383000	0.97214	2.480000	0.83734	0.561000	0.74099	GGT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.473	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	G	NM_001102608	-		130293060	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	SNP	1.000	A	A	130293060	G	A	130293060	3	1	151	1	0	0	0	0	1	0	0	0	3705	1116	39	1	3264	1	COL6A6	3	130293060	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	78623430	130293060	67729370	10	11043											
FER	2241	genome.wustl.edu	37	chr5	108281858	108281858	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggagaggctatccaaatttGaatctattcgtcattcaatt	7	7	3	2			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr5:108281858G>T	ENST00000281092.4	+	11	1648	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	FER_ENST00000438717.2_Nonsense_Mutation_p.E247*|FER_ENST00000536402.1_Missense_Mutation_p.L317F	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	422					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATCCAAATTTGAATCTATTCG	0.373																																					Colon(146;1051 1799 9836 27344 47401)												0								ENSG00000151422						125	131	129					5																	108281858		2202	4300	6502	FER	SO:0001587	stop_gained	0			-	HGNC	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1264G>T	5.37:g.108281858G>T	ENSP00000281092:p.Glu422*	Somatic	0	54	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP							pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.E422*	ENST00000281092.4	37	c.1264	CCDS4098.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.644068|8.644068	0.98897|0.98897	.|.	.|.	ENSG00000151422|ENSG00000151422	ENST00000281092;ENST00000438717|ENST00000536402	.|T	.|0.26957	.|1.7	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.042749|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51415	.|0.1673	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51474	.|-0.8701	.|5	0.40728|0.62326	T|D	0.16|0.03	-20.9934|-20.9934	19.6346|19.6346	0.95724|0.95724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	422;247|317	.|ENSP00000442627:L317F	ENSP00000281092:E422X|ENSP00000442627:L317F	E|L	+|+	1|3	0|2	FER|FER	108309757|108309757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.726000|8.726000	0.91474|0.91474	2.720000|2.720000	0.93068|0.93068	0.491000|0.491000	0.48974|0.48974	GAA|TTG	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	protein_coding	OTTHUMT00000250664.1	G	NM_005246	-		108281858	1	no_errors	ENST00000281092	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	108281858	G	T	108281858	4	4	151	1	0	0	0	0	0	1	0	0	5815	1291	45	3	1298	3	FER	5	108281858	Nonsense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		108281858	72633402	11	11044											
DRD1	1812	genome.wustl.edu	37	chr5	174869993	174869993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgttccccaggagcGtggacaggatgagcagcgac	15	12	0	1	rs5327	byFrequency	TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr5:174869993G>A	ENST00000393752.2	-	2	1102	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	37			T -> P (in dbSNP:rs5327).|T -> R (in dbSNP:rs5328).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCCCAGGAGCGTGGACAGGAT	0.572																																																	0			GRCh37	CM086309	DRD1	M	rs5328	ENSG00000184845						102	94	97					5																	174869993		2203	4300	6503	DRD1	SO:0001583	missense	0			-	HGNC	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.110C>T	5.37:g.174869993G>A	ENSP00000377353:p.Thr37Met	Somatic	0	36	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	0	100.00	B2RA44|Q4QRJ0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.T37M	ENST00000393752.2	37	c.110	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309924	0.81247	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.40756	1.02	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74414	-0.3673	10	0.72032	D	0.01	.	18.5126	0.90923	0.0:0.0:1.0:0.0	.	37	P21728	DRD1_HUMAN	M	37	ENSP00000377353:T37M	ENSP00000327652:T37M	T	-	2	0	DRD1	174802599	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	9.675000	0.98638	2.679000	0.91253	0.650000	0.86243	ACG	-	pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	protein_coding	OTTHUMT00000252982.2	G	NM_000794	-		174869993	-1	no_errors	ENST00000393752	ensembl	human	known	74_37	missense	SNP	1.000	A	A	174869993	G	A	174869993	3	1	151	1	0	0	0	0	1	0	0	0	4758	1145	40	1	1234	1	DRD1	5	174869993	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	66588135	174869993	6045267	12	11045											
SOBP	55084	genome.wustl.edu	37	chr6	107956488	107956488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccccgcggacgaggacCatgcctatgctctgcggatg	12	13	1	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr6:107956488C>T	ENST00000317357.5	+	6	3099	c.2440C>T	c.(2440-2442)Cat>Tat	p.H814Y	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGACGAGGACCATGCCTATGC	0.647																																																	0								ENSG00000112320						66	81	76					6																	107956488		2122	4238	6360	SOBP	SO:0001583	missense	0			-	HGNC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2440C>T	6.37:g.107956488C>T	ENSP00000318900:p.His814Tyr	Somatic	0	39	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP							NULL	p.H814Y	ENST00000317357.5	37	c.2440	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493821	0.84962	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.32515	1.45	4.7	4.7	0.59300	.	1.149520	0.06788	U	0.786566	T	0.39226	0.1070	L	0.29908	0.895	0.58432	D	0.999997	D	0.67145	0.996	D	0.75484	0.986	T	0.31613	-0.9937	10	0.72032	D	0.01	-2.4118	17.6084	0.88045	0.0:1.0:0.0:0.0	.	814	A7XYQ1	SOBP_HUMAN	Y	814;209	ENSP00000318900:H814Y	ENSP00000230065:H209Y	H	+	1	0	SOBP	108063181	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.361000	0.79497	2.130000	0.65690	0.462000	0.41574	CAT	-	NULL		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	protein_coding	OTTHUMT00000041693.2	C	NM_018013	-		107956488	1	no_errors	ENST00000317357	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107956488	C	T	107956488	3	4	151	1	0	0	0	0	1	0	0	0	14920	594	21	2	2462	2	SOBP	6	107956488	Missense_Mutation	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09		107956488	63158579	13	11046											
FBXO30	84085	genome.wustl.edu	37	chr6	146126375	146126375	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgaattagaaagaaaattGaatgaaggagcatgactgaa	10	3	0	7			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr6:146126375G>T	ENST00000237281.4	-	2	1333	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	389	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.						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)		AAAGAAAATTGAATGAAGGAG	0.393																																																	0								ENSG00000118496						157	156	156					6																	146126375		2203	4300	6503	FBXO30	SO:0001583	missense	0			-	HGNC	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.1167C>A	6.37:g.146126375G>T	ENSP00000237281:p.Phe389Leu	Somatic	0	67	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q9BXZ7	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.F389L	ENST00000237281.4	37	c.1167	CCDS5208.1	6	.	.	.	.	.	.	.	.	.	.	G	1.924	-0.447550	0.04572	.	.	ENSG00000118496	ENST00000237281	T	0.18502	2.21	5.46	3.64	0.41730	.	0.211973	0.50627	N	0.000117	T	0.03739	0.0106	L	0.47716	1.5	0.31949	N	0.609955	B	0.06786	0.001	B	0.04013	0.001	T	0.40515	-0.9559	10	0.02654	T	1	-1.4169	9.2805	0.37725	0.0733:0.2765:0.6502:0.0	.	389	Q8TB52	FBX30_HUMAN	L	389	ENSP00000237281:F389L	ENSP00000237281:F389L	F	-	3	2	FBXO30	146168068	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	2.178000	0.42519	0.759000	0.33084	-0.165000	0.13383	TTC	-	NULL		0.393	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	protein_coding	OTTHUMT00000042570.2	G		-		146126375	-1	no_errors	ENST00000237281	ensembl	human	known	74_37	missense	SNP	0.999	T	T	146126375	G	T	146126375	3	4	151	1	0	0	0	0	1	0	0	0	5742	1281	45	3	1078	3	FBXO30	6	146126375	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	38169887	146126375	24988692	14	11047											
PODXL	5420	genome.wustl.edu	37	chr7	131190689	131190689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccgccacgaggagcaGgaatgatgccatgcagacga	16	10	0	2			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr7:131190689G>A	ENST00000378555.3	-	8	1664	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	PODXL_ENST00000537928.1_Silent_p.L441L|PODXL_ENST00000541194.1_Silent_p.L475L|PODXL_ENST00000322985.9_Silent_p.L441L			O00592	PODXL_HUMAN	podocalyxin-like	473					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACGAGGAGCAGGAATGATGCC	0.632																																																	0								ENSG00000128567						40	34	36					7																	131190689		2203	4299	6502	PODXL	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1417C>T	7.37:g.131190689G>A		Somatic	0	74	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP							pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.L475	ENST00000378555.3	37	c.1423	CCDS34755.1	7																																																																																			-	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1		0.632	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	protein_coding	OTTHUMT00000337627.2	G	NM_001018111	-		131190689	-1	no_errors	ENST00000541194	ensembl	human	known	74_37	silent	SNP	1.000	A	A	131190689	G	A	131190689	2	1	151	1	0	0	0	0	0	0	0	1	12182	991	35	2		2	PODXL	7	131190689	Silent	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		131190689	27947974	15	11048											
FANCG	2189	genome.wustl.edu	37	chr9	35078228	35078228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggccaaccaggcgGtgcagggcagacagcagctc	15	14	0	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr9:35078228G>A	ENST00000378643.3	-	4	911	c.420C>T	c.(418-420)caC>caT	p.H140H	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	140					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAACCAGGCGGTGCAGGGCAG	0.627			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		Fanconi anaemia G	9	9p13	2189	"Fanconi anemia, complementation group G"		L	0								ENSG00000221829						69	69	69					9																	35078228		2203	4300	6503	FANCG	SO:0001819	synonymous_variant	0			-	HGNC	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.420C>T	9.37:g.35078228G>A		Somatic	0	28	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73		Silent	SNP							superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.H140	ENST00000378643.3	37	c.420	CCDS6574.1	9																																																																																			-	superfamily_Sig_transdc_His_kin_Hpt_dom		0.627	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	protein_coding	OTTHUMT00000052269.1	G	NM_004629	-		35078228	-1	no_errors	ENST00000378643	ensembl	human	known	74_37	silent	SNP	0.952	A	A	35078228	G	A	35078228	2	1	151	1	0	0	0	0	0	0	0	1	5670	1252	44	2		2	FANCG	9	35078228	Silent	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		35078228	106135203	16	11049											
PRKACG	5568	genome.wustl.edu	37	chr9	71628296	71628296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggtcggcgtagaagGgtgggaagcccacggccatc	18	10	0	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr9:71628296G>T	ENST00000377276.2	-	1	743	c.713C>A	c.(712-714)cCc>cAc	p.P238H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGCGTAGAAGGGTGGGAAGCC	0.597																																					Esophageal Squamous(110;2236 2623 32146)												0								ENSG00000165059						71	69	69					9																	71628296		2203	4300	6503	PRKACG	SO:0001583	missense	0			-	HGNC	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.713C>A	9.37:g.71628296G>T	ENSP00000366488:p.Pro238His	Somatic	0	37	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P238H	ENST00000377276.2	37	c.713	CCDS6625.1	9	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700631	0.48307	.	.	ENSG00000165059	ENST00000377276	T	0.15718	2.4	1.16	1.16	0.20824	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	0.31041	U	0.008368	T	0.50769	0.1635	H	0.97540	4.025	0.34132	D	0.665329	D	0.89917	1.0	D	0.97110	1.0	T	0.65849	-0.6068	10	0.87932	D	0	.	7.7676	0.28988	0.0:0.0:1.0:0.0	.	238	P22612	KAPCG_HUMAN	H	238	ENSP00000366488:P238H	ENSP00000366488:P238H	P	-	2	0	PRKACG	70818116	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	5.129000	0.64739	0.556000	0.29098	0.563000	0.77884	CCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.597	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	protein_coding	OTTHUMT00000052559.1	G		-		71628296	-1	no_errors	ENST00000377276	ensembl	human	known	74_37	missense	SNP	0.994	T	T	71628296	G	T	71628296	3	4	151	1	0	0	0	0	1	0	0	0	12504	1232	43	3	346	3	PRKACG	9	71628296	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	36550068	71628296	69585135	17	11050											
LATS2	26524	genome.wustl.edu	37	chr13	21563188	21563188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgcagcgggaagtgtGcccctgctgcctctacgctg	13	16	1	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr13:21563188G>A	ENST00000382592.4	-	4	1136	c.731C>T	c.(730-732)gCa>gTa	p.A244V	LATS2_ENST00000542899.1_Missense_Mutation_p.A244V|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAAGTGTGCCCCTGCTGC	0.711																																																	0								ENSG00000150457						7	9	8					13																	21563188		2173	4241	6414	LATS2	SO:0001583	missense	0			-	HGNC	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.731C>T	13.37:g.21563188G>A	ENSP00000372035:p.Ala244Val	Somatic	0	18	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	31.91		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.A244V	ENST00000382592.4	37	c.731	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367249	0.24771	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.58506	0.33;0.33	4.88	3.82	0.43975	.	2.277970	0.01491	N	0.017079	T	0.38427	0.1040	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27673	-1.0067	10	0.25751	T	0.34	.	4.9341	0.13932	0.808:0.0:0.192:0.0	.	244	Q9NRM7	LATS2_HUMAN	V	244	ENSP00000372035:A244V;ENSP00000441817:A244V	ENSP00000372035:A244V	A	-	2	0	LATS2	20461188	0.002000	0.14202	0.001000	0.08648	0.660000	0.38997	1.507000	0.35758	0.852000	0.35287	0.306000	0.20318	GCA	-	NULL		0.711	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	protein_coding	OTTHUMT00000044102.1	G		-		21563188	-1	no_errors	ENST00000382592	ensembl	human	known	74_37	missense	SNP	0.008	A	A	21563188	G	A	21563188	3	1	151	1	0	0	0	0	1	0	0	0	8649	1319	46	2	2555	2	LATS2	13	21563188	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		21563188	93606690	18	11051											
EFHA1	221154	genome.wustl.edu	37	chr13	22067469	22067469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacacacttccagtattcTtgtatactctgatgttgtgg	7	9	3	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr13:22067469T>C	ENST00000382374.4	-	12	1289	c.1224A>G	c.(1222-1224)caA>caG	p.Q408Q	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	408					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TCCAGTATTCTTGTATACTCT	0.323																																																	0								ENSG00000165487						161	153	156					13																	22067469		2202	4297	6499	MICU2	SO:0001819	synonymous_variant	0			-	HGNC	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1224A>G	13.37:g.22067469T>C		Somatic	1	116	0.85		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	68	48.48	Q8N0T6|Q8NAX8	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q408	ENST00000382374.4	37	c.1224	CCDS9297.1	13																																																																																			-	NULL		0.323	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICU2	protein_coding	OTTHUMT00000144355.1	T	NM_152726	-		22067469	-1	no_errors	ENST00000382374	ensembl	human	known	74_37	silent	SNP	0.998	C	C	22067469	T	C	22067469	2	2	151	1	0	0	0	0	0	0	0	1	4945	1606	56	5		5	EFHA1	13	22067469	Silent	SNP	T	TCGA-IE-A4EH-01A-11D-A24N-09	504281	22067469	93102409	19	11052											
COL4A2	1284	genome.wustl.edu	37	chr13	111164409	111164409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgccactactacgccaaCaagtacagcttctggctgac	7	15	1	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr13:111164409C>T	ENST00000360467.5	+	48	5316	c.5010C>T	c.(5008-5010)aaC>aaT	p.N1670N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1670	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACTACGCCAACAAGTACAGCT	0.622																																																	0								ENSG00000134871						70	79	76					13																	111164409		2140	4252	6392	COL4A2	SO:0001819	synonymous_variant	0			-	HGNC	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.5010C>T	13.37:g.111164409C>T		Somatic	0	114	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	101	8.18	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.N1670	ENST00000360467.5	37	c.5010	CCDS41907.1	13																																																																																			-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	C	NM_001846	-		111164409	1	no_errors	ENST00000360467	ensembl	human	known	74_37	silent	SNP	1.000	T	T	111164409	C	T	111164409	2	4	151	1	0	0	0	0	0	0	0	1	3692	477	17	2		2	COL4A2	13	111164409	Silent	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09	89096940	111164409	4005469	20	11053											
PSMB11	122706	genome.wustl.edu	37	chr14	23512330	23512330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccagcagggactgagaCggtgtgagaagcaggacttg	17	7	0	2	rs533259463		TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr14:23512330C>T	ENST00000408907.2	+	1	955	c.896C>T	c.(895-897)aCg>aTg	p.T299M		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	299					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GGGACTGAGACGGTGTGAGAA	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		19280	0		0	False		,,,				2504	0																0								ENSG00000222028						18	20	20					14																	23512330		2079	4195	6274	PSMB11	SO:0001583	missense	0			-	HGNC		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.896C>T	14.37:g.23512330C>T	ENSP00000386212:p.Thr299Met	Somatic	0	45	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67		Missense_Mutation	SNP							pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.T299M	ENST00000408907.2	37	c.896	CCDS41923.1	14	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869741	0.33069	.	.	ENSG00000222028	ENST00000408907	T	0.29655	1.56	3.6	-7.21	0.01490	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33803	-0.9854	9	0.52906	T	0.07	.	10.4345	0.44428	0.0:0.1427:0.6451:0.2122	.	299	A5LHX3	PSB11_HUMAN	M	299	ENSP00000386212:T299M	ENSP00000386212:T299M	T	+	2	0	PSMB11	22582170	0.000000	0.05858	0.004000	0.12327	0.460000	0.32559	-2.566000	0.00917	-1.587000	0.01630	-0.367000	0.07326	ACG	-	NULL		0.647	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB11	protein_coding	OTTHUMT00000408294.1	C	NM_001099780	-		23512330	1	no_errors	ENST00000408907	ensembl	human	known	74_37	missense	SNP	0.001	T	T	23512330	C	T	23512330	3	4	151	1	0	0	0	0	1	0	0	0	12681	536	19	1	898	1	PSMB11	14	23512330	Missense_Mutation	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09		23512330	83837210	21	11054											
CPNE6	9362	genome.wustl.edu	37	chr14	24545608	24545608	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggctttggggctcgaatCccccccaacttcgaggtagg	12	12	0	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr14:24545608C>T	ENST00000397016.2	+	13	1409	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	CPNE6_ENST00000537691.1_Silent_p.I421I|CPNE6_ENST00000216775.2_Silent_p.I366I	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	366	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGCTCGAATCCCCCCCAACT	0.602																																																	0								ENSG00000100884						117	125	122					14																	24545608		2203	4300	6503	CPNE6	SO:0001819	synonymous_variant	0			-	HGNC	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1098C>T	14.37:g.24545608C>T		Somatic	0	37	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.I421	ENST00000397016.2	37	c.1263	CCDS9607.1	14																																																																																			-	pfam_Copine,smart_VWF_A,pfscan_VWF_A		0.602	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	protein_coding	OTTHUMT00000071869.5	C		-		24545608	1	no_errors	ENST00000537691	ensembl	human	known	74_37	silent	SNP	0.986	T	T	24545608	C	T	24545608	2	4	151	1	0	0	0	0	0	0	0	1	3818	845	30	2		2	CPNE6	14	24545608	Silent	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09	1033278	24545608	82803932	22	11055											
C14orf39	317761	genome.wustl.edu	37	chr14	60945096	60945096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttacgaaaaacatcacatGttggcttccagctatagaaa	7	8	1	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr14:60945096G>A	ENST00000321731.3	-	5	404	c.245C>T	c.(244-246)aCa>aTa	p.T82I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	82					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AACATCACATGTTGGCTTCCA	0.259																																																	0								ENSG00000179008						61	60	60					14																	60945096		2202	4295	6497	C14orf39	SO:0001583	missense	0			-	HGNC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.245C>T	14.37:g.60945096G>A	ENSP00000324920:p.Thr82Ile	Somatic	0	67	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	36.00	Q08AQ4	Missense_Mutation	SNP							NULL	p.T82I	ENST00000321731.3	37	c.245	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686184	0.47991	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.58210	0.83;0.35	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.72391	0.3454	M	0.69823	2.125	0.40882	D	0.984002	D	0.89917	1.0	D	0.87578	0.998	T	0.74153	-0.3757	10	0.59425	D	0.04	-8.3516	17.3748	0.87389	0.0:0.0:1.0:0.0	.	82	Q8N1H7	S6OS1_HUMAN	I	82;53;82	ENSP00000324920:T82I;ENSP00000451665:T53I	ENSP00000324920:T82I	T	-	2	0	C14orf39	60014849	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	6.011000	0.70760	2.771000	0.95319	0.650000	0.86243	ACA	-	NULL		0.259	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	protein_coding	OTTHUMT00000276948.1	G	NM_174978	-		60945096	-1	no_errors	ENST00000321731	ensembl	human	known	74_37	missense	SNP	1.000	A	A	60945096	G	A	60945096	3	1	151	1	0	0	0	0	1	0	0	0	1774	1377	48	2	1574	2	C14orf39	14	60945096	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	36399488	60945096	46404444	23	11056											
TP53	7157	genome.wustl.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	12	5	1	0	rs587780073		TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	GRCh37	CM035576	TP53	M		ENSG00000141510						119	95	103					17																	7577580		2203	4300	6503	TP53	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;	-	HGNC	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	Somatic	0	70	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	3	94.74	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y234C	ENST00000269305.4	37	c.701	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7577580	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7577580	T	C	7577580	3	2	151	1	0	0	0	0	1	0	0	0	16388	1638	57	5	589	5	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-IE-A4EH-01A-11D-A24N-09		7577580	73617630	24	11057											
EPN2	22905	genome.wustl.edu	37	chr17	19189049	19189049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctggggctggcctccCgcccaaatggcgactggtcc	13	17	0	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr17:19189049C>T	ENST00000314728.5	+	4	1196	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	EPN2_ENST00000395626.1_Missense_Mutation_p.R238C|EPN2_ENST00000395620.2_Intron|EPN2_ENST00000347697.2_Intron|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000571254.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	238					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					gctggcctcccgcccaaatgg	0.677																																																	0								ENSG00000072134						14	15	14					17																	19189049		2197	4284	6481	EPN2	SO:0001583	missense	0			-	HGNC	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.712C>T	17.37:g.19189049C>T	ENSP00000320543:p.Arg238Cys	Somatic	0	42	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	62	24.39	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP							pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.R238C	ENST00000314728.5	37	c.712	CCDS11203.1	17	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266022	0.40095	.	.	ENSG00000072134	ENST00000314728;ENST00000395626	T;T	0.33654	2.41;1.4	5.22	3.17	0.36434	.	0.940458	0.08999	N	0.863343	T	0.20007	0.0481	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07790	-1.0754	10	0.48119	T	0.1	-2.5782	7.5628	0.27862	0.0:0.7969:0.0:0.2031	.	238;238	E9PBC1;O95208	.;EPN2_HUMAN	C	238	ENSP00000320543:R238C;ENSP00000378988:R238C	ENSP00000320543:R238C	R	+	1	0	EPN2	19129642	0.976000	0.34144	1.000000	0.80357	0.996000	0.88848	0.123000	0.15708	1.398000	0.46701	0.655000	0.94253	CGC	-	NULL		0.677	EPN2-001	KNOWN	basic|CCDS	protein_coding	EPN2	protein_coding	OTTHUMT00000132283.3	C	NM_014964	-		19189049	1	no_errors	ENST00000314728	ensembl	human	known	74_37	missense	SNP	0.999	T	T	19189049	C	T	19189049	3	4	151	1	0	0	0	0	1	0	0	0	5188	652	23	1	718	1	EPN2	17	19189049	Missense_Mutation	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09	11611469	19189049	62006161	25	11058											
TCEB3B	51224	genome.wustl.edu	37	chr18	44559800	44559800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgctgctctggggcgtcCggaagccgcaggtactgctc	15	14	1	0			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr18:44559800C>T	ENST00000332567.4	-	1	2188	c.1836G>A	c.(1834-1836)ccG>ccA	p.P612P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	612	Activation domain. {ECO:0000250}.				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						CTGGGGCGTCCGGAAGCCGCA	0.498																																																	0								ENSG00000206181						73	79	77					18																	44559800		2203	4300	6503	TCEB3B	SO:0001819	synonymous_variant	0			-	HGNC	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.1836G>A	18.37:g.44559800C>T		Somatic	0	66	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	40	37.50	Q9P2V9	Silent	SNP							pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P612	ENST00000332567.4	37	c.1836	CCDS11932.1	18																																																																																			-	pfam_RNA_pol_II_trans_fac_SIII_A		0.498	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	C	NM_016427	-		44559800	-1	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	SNP	0.993	T	T	44559800	C	T	44559800	2	4	151	1	0	0	0	0	0	0	0	1	15689	639	23	1		1	TCEB3B	18	44559800	Silent	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09		44559800	33517448	26	11059											
PRTN3	5657	genome.wustl.edu	37	chr19	843968	843968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacccagcagcacttctcGgtggctcaggtgtttctgaa	10	14	3	1			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr19:843968G>T	ENST00000234347.5	+	3	349	c.303G>T	c.(301-303)tcG>tcT	p.S101S	PRTN3_ENST00000544537.2_Silent_p.S60S	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	101	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		AGCACTTCTCGGTGGCTCAGG	0.662																																																	0								ENSG00000196415						37	38	37					19																	843968		2201	4298	6499	PRTN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.303G>T	19.37:g.843968G>T		Somatic	0	70	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Silent	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S101	ENST00000234347.5	37	c.303	CCDS32860.1	19																																																																																			-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.662	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTN3	protein_coding	OTTHUMT00000457888.2	G	NM_002777	-		843968	1	no_errors	ENST00000234347	ensembl	human	known	74_37	silent	SNP	0.000	T	T	843968	G	T	843968	2	4	151	1	0	0	0	0	0	0	0	1	12644	1103	39	3		3	PRTN3	19	843968	Silent	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		843968	58285015	27	11060											
BIRC8	112401	genome.wustl.edu	37	chr19	53793609	53793609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccaaaagtaatgagccGggcttcataacccgtcatgg	10	11	2	1	rs375698355		TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chr19:53793609G>A	ENST00000426466.1	-	1	1266	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	7					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GTAATGAGCCGGGCTTCATAA	0.418																																																	0								ENSG00000163098	G	TRP/ARG	0,4406		0,0,2203	50	54	53		19	-0.9	0.1	19		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	BIRC8	NM_033341.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	7/237	53793609	1,13005	2203	4300	6503	BIRC8	SO:0001583	missense	0			-	HGNC	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"Baculoviral IAP repeat containing"	14878	protein-coding gene	gene with protein product	"IAP-like protein 2", "inhibitor of apoptosis-like protein 2"		"baculoviral IAP repeat-containing 8"			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.19C>T	19.37:g.53793609G>A	ENSP00000412957:p.Arg7Trp	Somatic	0	39	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	Q6IPY1|Q96RW5	Missense_Mutation	SNP							pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.R7W	ENST00000426466.1	37	c.19	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594703	0.28445	0.0	1.16E-4	ENSG00000163098	ENST00000426466	D	0.96300	-3.97	0.502	-0.919	0.10478	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	D	0.98024	0.9349	H	0.98802	4.335	0.53005	D	0.999967	D	0.65815	0.995	P	0.56514	0.8	D	0.95337	0.8435	9	0.72032	D	0.01	-18.8463	4.9287	0.13907	0.2609:0.0:0.7391:0.0	.	7	Q96P09	BIRC8_HUMAN	W	7	ENSP00000412957:R7W	ENSP00000412957:R7W	R	-	1	2	BIRC8	58485421	0.695000	0.27747	0.052000	0.19188	0.007000	0.05969	0.999000	0.29757	-0.213000	0.10094	-0.700000	0.03674	CGG	-	pfam_BIR,smart_BIR,pfscan_BIR		0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	protein_coding	OTTHUMT00000464357.1	G	NM_033341	-		53793609	-1	no_errors	ENST00000426466	ensembl	human	known	74_37	missense	SNP	0.904	A	A	53793609	G	A	53793609	3	1	151	1	0	0	0	0	1	0	0	0	1440	1115	39	1	695	1	BIRC8	19	53793609	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	52949641	53793609	5335374	28	11061											
KIF4A	24137	genome.wustl.edu	37	chrX	69550144	69550144	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaacctattgttaatattGatccccagacagctgaactt	5	10	0	3			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chrX:69550144G>A	ENST00000374403.3	+	9	1115	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	KIF4A_ENST00000374388.3_Missense_Mutation_p.D345N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	345					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGTTAATATTGATCCCCAGAC	0.378																																																	0								ENSG00000090889						107	102	103					X																	69550144		2203	4298	6501	KIF4A	SO:0001583	missense	0			-	HGNC	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1033G>A	X.37:g.69550144G>A	ENSP00000363524:p.Asp345Asn	Somatic	0	51	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	30	47.37	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D345N	ENST00000374403.3	37	c.1033	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	30	5.054928	0.93793	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.73363	-0.74;-0.74	5.16	5.16	0.70880	Kinesin, motor domain (1);	0.100034	0.43919	D	0.000507	D	0.84552	0.5497	M	0.80508	2.5	0.80722	D	1	P;P	0.49696	0.927;0.797	P;P	0.56434	0.798;0.584	D	0.87140	0.2202	10	0.87932	D	0	.	16.9009	0.86113	0.0:0.0:1.0:0.0	.	345;345	O95239;O95239-2	KIF4A_HUMAN;.	N	345	ENSP00000363509:D345N;ENSP00000363524:D345N	ENSP00000363509:D345N	D	+	1	0	KIF4A	69466869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.379000	0.97198	2.285000	0.76669	0.436000	0.28706	GAT	-	superfamily_P-loop_NTPase		0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	protein_coding	OTTHUMT00000057068.1	G	NM_012310	-		69550144	1	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69550144	G	A	69550144	3	1	151	1	0	0	0	0	1	0	0	0	8305	1290	45	2	1063	2	KIF4A	23	69550144	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09		69550144	85720416	29	11062											
RGAG1	57529	genome.wustl.edu	37	chrX	109695944	109695944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgccactaatgagagctcAagacccaggagtaatgcctg	10	11	1	2			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chrX:109695944A>T	ENST00000465301.2	+	3	2345	c.2099A>T	c.(2098-2100)cAa>cTa	p.Q700L	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q700L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	700										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						ATGAGAGCTCAAGACCCAGGA	0.507																																																	0								ENSG00000243978						122	101	108					X																	109695944		2203	4300	6503	RGAG1	SO:0001583	missense	0			-	HGNC	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.2099A>T	X.37:g.109695944A>T	ENSP00000419786:p.Gln700Leu	Somatic	0	54	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28	Q9P2M8	Missense_Mutation	SNP							NULL	p.Q700L	ENST00000465301.2	37	c.2099	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	A	1.081	-0.667046	0.03428	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.44083	0.93;0.93	3.96	2.09	0.27110	.	0.852571	0.09821	N	0.751458	T	0.26738	0.0654	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.24548	-1.0157	9	.	.	.	-0.6656	4.1289	0.10139	0.4424:0.4398:0.0:0.1178	.	700	Q8NET4	RGAG1_HUMAN	L	700	ENSP00000419786:Q700L;ENSP00000441452:Q700L	.	Q	+	2	0	RGAG1	109582600	0.229000	0.23729	0.001000	0.08648	0.004000	0.04260	1.712000	0.37940	0.402000	0.25451	-0.269000	0.10298	CAA	-	NULL		0.507	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	protein_coding	OTTHUMT00000057906.2	A	NM_020769	-		109695944	1	no_errors	ENST00000465301	ensembl	human	known	74_37	missense	SNP	0.003	T	T	109695944	A	T	109695944	3	4	151	1	0	0	0	0	1	0	0	0	13282	130	5	5	2101	5	RGAG1	23	109695944	Missense_Mutation	SNP	A	TCGA-IE-A4EH-01A-11D-A24N-09	40145800	109695944	45574616	30	11063											
ODZ1	10178	genome.wustl.edu	37	chrX	124097497	124097497	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgtatgactgtcttgGttttcttccatcttcactct	8	9	5	1	rs370597690		TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chrX:124097497G>C	ENST00000371130.3	-	1	169	c.106C>G	c.(106-108)Cca>Gca	p.P36A	TENM1_ENST00000422452.2_Missense_Mutation_p.P36A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	36	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GACTGTCTTGGTTTTCTTCCA	0.438																																																	0								ENSG00000009694						316	283	294					X																	124097497		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.106C>G	X.37:g.124097497G>C	ENSP00000360171:p.Pro36Ala	Somatic	0	53	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	45.45	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.P36A	ENST00000371130.3	37	c.106	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342883	0.41498	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.30981	1.51;1.51	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.154026	0.44285	D	0.000480	T	0.26955	0.0660	L	0.34521	1.04	0.35125	D	0.767452	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.22208	-1.0223	10	0.62326	D	0.03	.	15.1558	0.72739	0.0:0.1375:0.8625:0.0	.	36;36;36	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	36	ENSP00000360171:P36A;ENSP00000403954:P36A	ENSP00000360171:P36A	P	-	1	0	ODZ1	123925178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.028000	0.64115	2.417000	0.82017	0.600000	0.82982	CCA	-	pfam_Ten_N		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	G	NM_014253	-		124097497	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124097497	G	C	124097497	3	2	151	1	0	0	0	0	1	0	0	0	10836	1261	44	4	8220	4	ODZ1	23	124097497	Missense_Mutation	SNP	G	TCGA-IE-A4EH-01A-11D-A24N-09	14401553	124097497	31173063	31	11064			1	82		2	2	18	N	G_C	1.757275e-05
ODZ1	10178	genome.wustl.edu	37	chrX	124097514	124097514	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggttttcttccatcttcaCtctcatcagaagaactggtg	7	10	5	2			TCGA-IE-A4EH-01A-11D-A24N-09	TCGA-IE-A4EH-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e	cd00cebf-c6ff-4950-9836-85300c25b19b	g.chrX:124097514C>G	ENST00000371130.3	-	1	152	c.89G>C	c.(88-90)aGt>aCt	p.S30T	TENM1_ENST00000422452.2_Missense_Mutation_p.S30T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	30	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCATCTTCACTCTCATCAGA	0.448																																																	0								ENSG00000009694						308	273	285					X																	124097514		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.89G>C	X.37:g.124097514C>G	ENSP00000360171:p.Ser30Thr	Somatic	0	56	0		0.704119552382561				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	36	45.45	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S30T	ENST00000371130.3	37	c.89	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975983	0.74360	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.40225	1.04;1.04	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	L	0.50333	1.59	0.54753	D	0.999983	D;D;P	0.57257	0.979;0.979;0.625	D;D;B	0.74023	0.982;0.982;0.402	T	0.62895	-0.6757	10	0.87932	D	0	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	30;30;30	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	30	ENSP00000360171:S30T;ENSP00000403954:S30T	ENSP00000360171:S30T	S	-	2	0	ODZ1	123925195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.221000	0.78016	2.417000	0.82017	0.600000	0.82982	AGT	-	pfam_Ten_N		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	C	NM_014253	-		124097514	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	G	G	124097514	C	G	124097514	3	3	151	1	0	0	0	0	1	0	0	0	10836	565	20	4	8237	4	ODZ1	23	124097514	Missense_Mutation	SNP	C	TCGA-IE-A4EH-01A-11D-A24N-09	17	124097514	31173046	32	11065			1	82		2	2	18	N	G_C	1.757275e-05
EFCAB7	84455	genome.wustl.edu	37	chr1	64036710	64036710	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcagatgagaaagtgattAttcacatcagcaatgagcta	9	6	3	4			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr1:64036710A>T	ENST00000371088.4	+	13	1972	c.1726A>T	c.(1726-1728)Att>Ttt	p.I576F	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	576							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GAAAGTGATTATTCACATCAG	0.318																																																	0								ENSG00000203965						83	82	83					1																	64036710		2203	4299	6502	EFCAB7	SO:0001583	missense	0			-	HGNC	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1726A>T	1.37:g.64036710A>T	ENSP00000360129:p.Ile576Phe	Somatic	0	62	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	7	84.09	Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	33	0	0	5	89.80	44	smart_EF_hand_dom,pfscan_EF_hand_dom	p.I576F	ENST00000371088.4	37	c.1726	CCDS30737.1	1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542766	0.65198	.	.	ENSG00000203965	ENST00000371088	T	0.62639	0.01	5.95	5.95	0.96441	.	0.108661	0.64402	D	0.000005	T	0.44787	0.1310	L	0.51422	1.61	0.80722	D	1	P	0.51933	0.949	B	0.44163	0.443	T	0.58752	-0.7581	10	0.72032	D	0.01	-19.9593	7.369	0.26790	0.8026:0.0:0.069:0.1284	.	576	A8K855	EFCB7_HUMAN	F	576	ENSP00000360129:I576F	ENSP00000360129:I576F	I	+	1	0	EFCAB7	63809298	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.136000	0.50554	2.280000	0.76307	0.460000	0.39030	ATT	-	NULL		0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	protein_coding	OTTHUMT00000024910.1	A	NM_032437	-		64036710	1	no_errors	ENST00000371088	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64036710	A	T	64036710	3	4	152	1	0	0	0	0	1	0	0	0	4942	449	16	5	1772	5	EFCAB7	1	64036710	Missense_Mutation	SNP	A	TCGA-IE-A4EI-01A-11D-A24N-09		64036710	185213911	1	11066											
CACNA1S	779	genome.wustl.edu	37	chr1	201009019	201009019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtcgaggctgcccagGgaggacccgaggttcaggca	17	10	1	0			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr1:201009019G>A	ENST00000362061.3	-	44	5788	c.5562C>T	c.(5560-5562)tcC>tcT	p.S1854S	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.S1835S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1854					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)	GGCTGCCCAGGGAGGACCCGA	0.602																																																	0								ENSG00000081248						100	98	99					1																	201009019		2203	4300	6503	CACNA1S	SO:0001819	synonymous_variant	0			-	HGNC	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.5562C>T	1.37:g.201009019G>A		Somatic	0	34	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	32	0	0	36	28.00	14	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.S1854	ENST00000362061.3	37	c.5562	CCDS1407.1	1																																																																																			-	NULL		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	G	NM_000069	-		201009019	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	silent	SNP	0.906	A	A	201009019	G	A	201009019	2	1	152	1	0	0	0	0	0	0	0	1	2549	1219	43	2		2	CACNA1S	1	201009019	Silent	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	136972309	201009019	48241602	2	11067											
GBX2	2637	genome.wustl.edu	37	chr2	237074887	237074887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgtagacgtggtgctGcccgcggcgccgctgctcgg	16	15	0	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr2:237074887G>A	ENST00000306318.4	-	2	1114	c.717C>T	c.(715-717)ggC>ggT	p.G239G	AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	239					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		ACGTGGTGCTGCCCGCGGCGC	0.647																																																	0								ENSG00000168505						30	35	33					2																	237074887		2203	4300	6503	GBX2	SO:0001819	synonymous_variant	0			-	HGNC	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.717C>T	2.37:g.237074887G>A		Somatic	0	36	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	29	0	0	16	50.00	16	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G239	ENST00000306318.4	37	c.717	CCDS2515.1	2																																																																																			-	superfamily_Homeodomain-like		0.647	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	protein_coding	OTTHUMT00000257078.3	G	NM_001485	-		237074887	-1	no_errors	ENST00000306318	ensembl	human	known	74_37	silent	SNP	1.000	A	A	237074887	G	A	237074887	2	1	152	1	0	0	0	0	0	0	0	1	6283	1306	46	2		2	GBX2	2	237074887	Silent	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		237074887	6124486	3	11068											
ITGA9	3680	genome.wustl.edu	37	chr3	37574815	37574815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcagagcaaggcctGtcattacggtggatgtctcc	12	12	2	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr3:37574815G>T	ENST00000264741.5	+	14	1640	c.1384G>T	c.(1384-1386)Gtc>Ttc	p.V462F	ITGA9_ENST00000422441.1_Missense_Mutation_p.V462F	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	462					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCAAGGCCTGTCATTACGGT	0.537																																																	0								ENSG00000144668						114	89	97					3																	37574815		2203	4300	6503	ITGA9	SO:0001583	missense	0			-	HGNC	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1384G>T	3.37:g.37574815G>T	ENSP00000264741:p.Val462Phe	Somatic	0	94	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q14638	Missense_Mutation	SNP	34	0	0	36	0.00	0	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V462F	ENST00000264741.5	37	c.1384	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618118	0.66787	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.82984	-1.67;-1.67	6.07	5.2	0.72013	Integrin alpha-2 (1);	0.061082	0.64402	D	0.000004	D	0.90937	0.7151	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.97110	1.0;0.976	D	0.92131	0.5712	10	0.87932	D	0	.	15.5329	0.75977	0.066:0.0:0.934:0.0	.	462;462	Q13797;E9PDS3	ITA9_HUMAN;.	F	462	ENSP00000397258:V462F;ENSP00000264741:V462F	ENSP00000264741:V462F	V	+	1	0	ITGA9	37549819	1.000000	0.71417	0.966000	0.40874	0.184000	0.23303	7.905000	0.87416	1.577000	0.49804	0.655000	0.94253	GTC	-	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.537	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	protein_coding	OTTHUMT00000253361.1	G	NM_002207	-		37574815	1	no_errors	ENST00000264741	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37574815	G	T	37574815	3	4	152	1	0	0	0	0	1	0	0	0	7885	1377	48	3	1438	3	ITGA9	3	37574815	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		37574815	160447615	4	11069											
GATA2	2624	genome.wustl.edu	37	chr3	128202738	128202738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgagtggtcggttctGcccattcatcttgtggtaga	12	8	3	3			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr3:128202738G>T	ENST00000341105.2	-	4	1313	c.982C>A	c.(982-984)Cag>Aag	p.Q328K	GATA2_ENST00000489987.1_5'Flank|GATA2_ENST00000430265.2_Missense_Mutation_p.Q328K|GATA2_ENST00000487848.1_Missense_Mutation_p.Q328K	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	328					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.Q328*(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)		GGTCGGTTCTGCCCATTCATC	0.637			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000179348						91	76	81					3																	128202738		2203	4300	6503	GATA2	SO:0001583	missense	0			-	HGNC	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.982C>A	3.37:g.128202738G>T	ENSP00000345681:p.Gln328Lys	Somatic	0	61	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	20	0	0	33	21.43	9	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.Q328K	ENST00000341105.2	37	c.982	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.519785	0.96416	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99466	-5.95;-5.95;-5.95	5.15	5.15	0.70609	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (3);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	N	0.02539	-0.55	0.80722	D	1	D;D	0.62365	0.979;0.991	P;D	0.64877	0.801;0.93	D	0.99950	1.1529	10	0.87932	D	0	-17.9832	18.6153	0.91300	0.0:0.0:1.0:0.0	.	328;328	P23769-2;P23769	.;GATA2_HUMAN	K	328	ENSP00000345681:Q328K;ENSP00000400259:Q328K;ENSP00000417074:Q328K	ENSP00000345681:Q328K	Q	-	1	0	GATA2	129685428	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.854000	0.99522	2.388000	0.81334	0.491000	0.48974	CAG	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA		0.637	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	protein_coding	OTTHUMT00000356925.1	G	NM_032638	-		128202738	-1	no_errors	ENST00000341105	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128202738	G	T	128202738	3	4	152	1	0	0	0	0	1	0	0	0	6256	1328	46	3	472	3	GATA2	3	128202738	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	90627923	128202738	69819692	5	11070											
SLC2A2	6514	genome.wustl.edu	37	chr3	170723133	170723133	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccactagaataggctGtcggtagctggaattggtga	14	7	0	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr3:170723133G>C	ENST00000314251.3	-	7	983	c.904C>G	c.(904-906)Cag>Gag	p.Q302E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.Q183E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	302					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AGAATAGGCTGTCGGTAGCTG	0.418																																																	0								ENSG00000163581						195	177	183					3																	170723133		2203	4300	6503	SLC2A2	SO:0001583	missense	0			-	HGNC	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"Solute carriers"	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.904C>G	3.37:g.170723133G>C	ENSP00000323568:p.Gln302Glu	Somatic	0	52	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	49	0	0	43	35.82	24	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.Q302E	ENST00000314251.3	37	c.904	CCDS3215.1	3	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303224	0.40795	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.80566	-1.39;-1.39	5.53	2.61	0.31194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.255323	0.47093	D	0.000251	D	0.83211	0.5205	M	0.88241	2.94	0.50632	D	0.999886	B	0.26195	0.144	B	0.35899	0.213	T	0.76005	-0.3117	10	0.09590	T	0.72	.	14.6816	0.69020	0.0:0.0:0.6005:0.3995	.	302	P11168	GTR2_HUMAN	E	302;183	ENSP00000323568:Q302E;ENSP00000372258:Q183E	ENSP00000323568:Q302E	Q	-	1	0	SLC2A2	172205827	1.000000	0.71417	0.204000	0.23530	0.070000	0.16714	3.154000	0.50693	0.318000	0.23185	-0.293000	0.09583	CAG	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.418	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A2	protein_coding	OTTHUMT00000352834.1	G	NM_000340	-		170723133	-1	no_errors	ENST00000314251	ensembl	human	known	74_37	missense	SNP	0.986	C	C	170723133	G	C	170723133	3	2	152	1	0	0	0	0	1	0	0	0	14552	1386	48	4	690	4	SLC2A2	3	170723133	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	42520395	170723133	27299297	6	11071											
BOD1L	259282	genome.wustl.edu	37	chr4	13604281	13604281	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgggctctgcatttaagtCattttctttcttggccatgt	8	8	4	0			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr4:13604281C>T	ENST00000040738.5	-	10	4378	c.4243G>A	c.(4243-4245)Gac>Aac	p.D1415N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1415						nucleus (GO:0005634)	DNA binding (GO:0003677)										GCATTTAAGTCATTTTCTTTC	0.408																																																	0								ENSG00000038219						109	110	110					4																	13604281		2203	4300	6503	BOD1L1	SO:0001583	missense	0			-	HGNC	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.4243G>A	4.37:g.13604281C>T	ENSP00000040738:p.Asp1415Asn	Somatic	0	116	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	55	36.78	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	41	0	0	27	38.64	17	NULL	p.D1415N	ENST00000040738.5	37	c.4243	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778428	0.31502	.	.	ENSG00000038219	ENST00000040738	T	0.08370	3.1	5.37	3.56	0.40772	.	0.753271	0.12064	N	0.502829	T	0.06371	0.0164	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.43097	-0.9412	10	0.22109	T	0.4	-0.9056	7.2128	0.25943	0.1671:0.7441:0.0:0.0888	.	1415	Q8NFC6	BOD1L_HUMAN	N	1415	ENSP00000040738:D1415N	ENSP00000040738:D1415N	D	-	1	0	BOD1L	13213379	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.451000	0.21779	0.580000	0.29522	0.650000	0.86243	GAC	-	NULL		0.408	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	C	NM_148894	-		13604281	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	SNP	0.004	T	T	13604281	C	T	13604281	3	4	152	1	0	0	0	0	1	0	0	0	1483	826	29	2	4980	2	BOD1L	4	13604281	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09		13604281	177549995	7	11072											
OR2B3	442184	genome.wustl.edu	37	chr6	29054540	29054540	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcgtggcatgttaagagtCaaggaagactgcagcactga	13	8	1	3			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr6:29054540C>T	ENST00000377173.2	-	1	550	c.486G>A	c.(484-486)ttG>ttA	p.L162L		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	162						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)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGTTAAGAGTCAAGGAAGACT	0.488																																																	0								ENSG00000204703						59	53	55					6																	29054540		2203	4300	6503	OR2B3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.486G>A	6.37:g.29054540C>T		Somatic	0	21	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B0UYQ1|Q5ST41|Q96R13	Silent	SNP	33	0	0	21	40.00	14	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L162	ENST00000377173.2	37	c.486	CCDS34358.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.488	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	protein_coding	OTTHUMT00000076469.2	C		-		29054540	-1	no_errors	ENST00000377173	ensembl	human	known	74_37	silent	SNP	0.010	T	T	29054540	C	T	29054540	2	4	152	1	0	0	0	0	0	0	0	1	10992	825	29	2		2	OR2B3	6	29054540	Silent	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09		29054540	142060527	8	11073											
SKIV2L	6499	genome.wustl.edu	37	chr6	31937190	31937190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtatatgagtgggcccGgggcatggtgagtacctgag	18	6	0	3			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr6:31937190G>T	ENST00000375394.2	+	27	3646	c.3533G>T	c.(3532-3534)cGg>cTg	p.R1178L	STK19_ENST00000375331.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.R985L|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375333.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1178					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GAGTGGGCCCGGGGCATGGTG	0.572																																																	0								ENSG00000204351						99	98	98					6																	31937190		2203	4300	6503	SKIV2L	SO:0001583	missense	0			-	HGNC		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3533G>T	6.37:g.31937190G>T	ENSP00000364543:p.Arg1178Leu	Somatic	0	85	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	25	0	0	18	50.00	18	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1178L	ENST00000375394.2	37	c.3533	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793530	0.90453	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.23754	1.89;1.89	5.29	5.29	0.74685	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	L	0.58101	1.795	0.80722	D	1	B	0.30937	0.301	B	0.34779	0.189	T	0.04930	-1.0917	10	0.66056	D	0.02	-28.4233	17.7168	0.88340	0.0:0.0:1.0:0.0	.	1178	Q15477	SKIV2_HUMAN	L	1178;1020;985	ENSP00000364543:R1178L;ENSP00000442645:R985L	ENSP00000364543:R1178L	R	+	2	0	SKIV2L	32045169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.528000	0.90598	2.460000	0.83146	0.655000	0.94253	CGG	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	protein_coding	OTTHUMT00000076264.3	G		-		31937190	1	no_errors	ENST00000375394	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31937190	G	T	31937190	3	4	152	1	0	0	0	0	1	0	0	0	14367	1116	39	3	3639	3	SKIV2L	6	31937190	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	2882650	31937190	139177877	9	11074											
RP1L1	94137	genome.wustl.edu	37	chr8	10480360	10480360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctcctgtggccGgcctggtccactgggggtct	16	12	2	0	rs200121539		TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr8:10480360G>A	ENST00000382483.3	-	2	575	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	118	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)				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)		TCCTGTGGCCGGCCTGGTCCA	0.637																																																	0								ENSG00000183638																																			RP1L1	SO:0001583	missense	0			-	HGNC	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.352C>T	8.37:g.10480360G>A	ENSP00000371923:p.Arg118Trp	Somatic	0	84	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	53	30.26	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	32	0	0	29	35.56	16	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R118W	ENST00000382483.3	37	c.352	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	g	12.31	1.899891	0.33535	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	4.32	-5.73	0.02398	.	.	.	.	.	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.09377	0.004	T	0.44937	-0.9295	9	0.54805	T	0.06	-0.6815	1.102	0.01686	0.2966:0.2077:0.3539:0.1418	.	118	A6NKC6	.	W	118	ENSP00000371923:R118W	ENSP00000371923:R118W	R	-	1	2	RP1L1	10517770	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.738000	0.26158	-1.015000	0.03375	-1.023000	0.02433	CGG	-	NULL		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G		rs200121539		10480360	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	SNP	0.000	A	A	10480360	G	A	10480360	3	1	152	1	0	0	0	0	1	0	0	0	13541	1115	39	1	6862	1	RP1L1	8	10480360	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		10480360	135883662	10	11075											
KCNV1	27012	genome.wustl.edu	37	chr8	110980696	110980696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagggacacttgtgaagGttgtgtcaggaatgctttgc	13	7	1	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr8:110980696G>T	ENST00000524391.1	-	4	2156	c.1124C>A	c.(1123-1125)aCc>aAc	p.T375N	KCNV1_ENST00000297404.1_Missense_Mutation_p.T375N			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	375					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACTTGTGAAGGTTGTGTCAGG	0.473																																																	0								ENSG00000164794						88	87	87					8																	110980696		2203	4300	6503	KCNV1	SO:0001583	missense	0			-	HGNC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1124C>A	8.37:g.110980696G>T	ENSP00000435954:p.Thr375Asn	Somatic	0	36	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	Q9UHJ4	Missense_Mutation	SNP	39	0	0	34	27.66	13	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.T375N	ENST00000524391.1	37	c.1124	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799812	0.50208	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98012	-4.66;-4.66	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	N	0.02802	-0.49	0.49687	D	0.999812	D	0.56287	0.975	P	0.54431	0.752	D	0.95023	0.8162	10	0.29301	T	0.29	.	18.0522	0.89353	0.0:0.0:1.0:0.0	.	375	Q6PIU1	KCNV1_HUMAN	N	375;375;251	ENSP00000435954:T375N;ENSP00000297404:T375N	ENSP00000297404:T375N	T	-	2	0	KCNV1	111049872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.058000	0.89460	2.479000	0.83701	0.655000	0.94253	ACC	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom		0.473	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	protein_coding	OTTHUMT00000385525.1	G	NM_014379	-		110980696	-1	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110980696	G	T	110980696	3	4	152	1	0	0	0	0	1	0	0	0	8096	1261	44	3	382	3	KCNV1	8	110980696	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	100500336	110980696	35383326	11	11076											
KIAA1432	57589	genome.wustl.edu	37	chr9	5720614	5720614	+	Splice_Site	DEL	T	T	-													gtgcttatttttttcatcagTaggttcattcctgggcttca							TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr9:5720614delT	ENST00000414202.2	+	6	775	c.584delT	c.(583-585)gta>ga	p.V195fs	KIAA1432_ENST00000449720.2_Splice_Site_p.V116fs|RP11-207C16.4_ENST00000426764.1_RNA|KIAA1432_ENST00000381532.2_Splice_Site_p.V116fs|KIAA1432_ENST00000251879.6_Splice_Site_p.V195fs|KIAA1432_ENST00000418622.3_Splice_Site_p.V116fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTTTCATCAGTAGGTTCATTC	0.343																																																	0								ENSG00000107036						140	134	136					9																	5720614		2203	4300	6503	KIAA1432	SO:0001630	splice_region_variant	0				HGNC																												ENST00000414202.2:c.584-1T>-	9.37:g.5720614delT		Somatic	0	53	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	6	68.42		Frame_Shift_Del	DEL	33	0	0	7	78.12	25	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.V116fs	ENST00000414202.2	37	c.347	CCDS34982.2	9																																																																																			-	superfamily_WD40_repeat_dom		0.343	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	protein_coding	OTTHUMT00000051636.3	T			Frame_Shift_Del	5720614	1	no_errors	ENST00000418622	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	5720614	T	-	5720614	8	5	152	1	0	1	0	1	0	0	1	0	8235	1652	57	0	365	0	KIAA1432	9	5720614	Splice_Site	DEL	T	TCGA-IE-A4EI-01A-11D-A24N-09		5720614	135492817	12	11077											
STOML2	30968	genome.wustl.edu	37	chr9	35100719	35100719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtgaagctgctgcatctCcattctgtgatcacaggggg	12	10	4	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr9:35100719C>T	ENST00000356493.5	-	9	871	c.809G>A	c.(808-810)gGa>gAa	p.G270E	STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000452248.2_Missense_Mutation_p.G225E	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	270					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCATCTCCATTCTGTGA	0.512																																																	0								ENSG00000165283						145	134	138					9																	35100719		2203	4300	6503	STOML2	SO:0001583	missense	0			-	HGNC	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.809G>A	9.37:g.35100719C>T	ENSP00000348886:p.Gly270Glu	Somatic	0	50	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	27	0	0	24	41.46	17	pfam_Band_7,smart_Band_7,prints_Stomatin	p.G270E	ENST00000356493.5	37	c.809	CCDS6577.1	9	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686109	0.88639	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98280	-3.7;-4.84	5.69	5.69	0.88448	.	0.110642	0.64402	D	0.000009	D	0.99180	0.9716	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.98;0.997	D	0.99346	1.0913	9	.	.	.	-1.9483	19.8047	0.96525	0.0:1.0:0.0:0.0	.	225;270	B4E1K7;Q9UJZ1	.;STML2_HUMAN	E	270;225	ENSP00000348886:G270E;ENSP00000395743:G225E	.	G	-	2	0	STOML2	35090719	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.692000	0.91855	0.563000	0.77884	GGA	-	NULL		0.512	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML2	protein_coding	OTTHUMT00000052273.1	C	NM_013442	-		35100719	-1	no_errors	ENST00000356493	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35100719	C	T	35100719	3	4	152	1	0	0	0	0	1	0	0	0	15321	855	30	2	269	2	STOML2	9	35100719	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09	29380105	35100719	106112712	13	11078											
FAM120A	23196	genome.wustl.edu	37	chr9	96318801	96318801	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttggatgtattttgatggGaagctcttccaatccaaact	8	9	1	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr9:96318801G>A	ENST00000277165.6	+	13	2606	c.2412G>A	c.(2410-2412)ggG>ggA	p.G804G	FAM120A_ENST00000333936.5_Silent_p.G832G|FAM120A_ENST00000340893.4_Silent_p.G804G	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	804						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTTTGATGGGAAGCTCTTCC	0.527																																																	0								ENSG00000048828						174	174	174					9																	96318801		2203	4300	6503	FAM120A	SO:0001819	synonymous_variant	0			-	HGNC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2412G>A	9.37:g.96318801G>A		Somatic	0	57	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	53	31.17	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	33	0	0	33	36.54	19	NULL	p.G832	ENST00000277165.6	37	c.2496	CCDS6706.1	9																																																																																			-	NULL		0.527	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	protein_coding	OTTHUMT00000053160.2	G	NM_014612	-		96318801	1	no_errors	ENST00000333936	ensembl	human	known	74_37	silent	SNP	0.996	A	A	96318801	G	A	96318801	2	1	152	1	0	0	0	0	0	0	0	1	5417	1161	41	2		2	FAM120A	9	96318801	Silent	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	61218082	96318801	44894630	14	11079											
STOM	2040	genome.wustl.edu	37	chr9	124110391	124110391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttccacacgctccacctTtattccccaggcatcagtgg	6	15	1	0	rs528790770	byFrequency	TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr9:124110391T>C	ENST00000286713.2	-	6	579	c.562A>G	c.(562-564)Aag>Gag	p.K188E	STOM_ENST00000538954.1_Missense_Mutation_p.K137E|AL161784.1_ENST00000594963.1_Missense_Mutation_p.F54S|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	188					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CGCTCCACCTTTATTCCCCAG	0.547																																																	0								ENSG00000148175						130	128	129					9																	124110391		2203	4300	6503	STOM	SO:0001583	missense	0			-	HGNC		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"erythrocyte membrane protein band 7.2 (stomatin)"	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.562A>G	9.37:g.124110391T>C	ENSP00000286713:p.Lys188Glu	Somatic	0	55	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	50	32.43	B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	31	0	0	23	54.00	27	pfam_Band_7,smart_Band_7,prints_Stomatin	p.K188E	ENST00000286713.2	37	c.562	CCDS6830.1	9	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777128	0.70107	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.92149	-2.98;-2.98	5.45	4.24	0.50183	Band 7/stomatin-like, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.87682	2.9	0.58432	D	0.999999	B	0.20550	0.046	B	0.32928	0.155	D	0.92561	0.6058	10	0.87932	D	0	.	11.4335	0.50054	0.0:0.0:0.1507:0.8493	.	188	P27105	STOM_HUMAN	E	188;137	ENSP00000286713:K188E;ENSP00000445764:K137E	ENSP00000286713:K188E	K	-	1	0	STOM	123150212	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.048000	0.57390	2.059000	0.61396	0.533000	0.62120	AAG	-	pfam_Band_7,smart_Band_7,prints_Stomatin		0.547	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOM	protein_coding	OTTHUMT00000053889.1	T	NM_004099	-		124110391	-1	no_errors	ENST00000286713	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124110391	T	C	124110391	3	2	152	1	0	0	0	0	1	0	0	0	15319	1850	64	5	312	5	STOM	9	124110391	Missense_Mutation	SNP	T	TCGA-IE-A4EI-01A-11D-A24N-09	27791590	124110391	17103040	15	11080											
SLC27A4	10999	genome.wustl.edu	37	chr9	131107639	131107639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctgcaggcccggggcCtggcctcgggcgatgtggct	16	14	0	0			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr9:131107639C>T	ENST00000300456.4	+	3	484	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	123					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GGCCCGGGGCCTGGCCTCGGG	0.617																																					Pancreas(107;1554 2241 10946 12953)												0								ENSG00000167114						55	51	52					9																	131107639		2203	4300	6503	SLC27A4	SO:0001819	synonymous_variant	0			-	HGNC	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.367C>T	9.37:g.131107639C>T		Somatic	0	78	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	57	33.72	A8K2F7|O95186|Q96G53	Silent	SNP	23	0	0	26	27.78	10	pfam_AMP-dep_Synth/Lig	p.L123	ENST00000300456.4	37	c.367	CCDS6899.1	9																																																																																			-	pfam_AMP-dep_Synth/Lig		0.617	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	protein_coding	OTTHUMT00000054432.2	C		-		131107639	1	no_errors	ENST00000300456	ensembl	human	known	74_37	silent	SNP	1.000	T	T	131107639	C	T	131107639	2	4	152	1	0	0	0	0	0	0	0	1	14536	680	24	2		2	SLC27A4	9	131107639	Silent	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09	6997248	131107639	10105792	16	11081											
NRP1	8829	genome.wustl.edu	37	chr10	33510663	33510663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgttatcttgcaaccGtatacttcaaatctcataga	4	10	3	1	rs2229935	byFrequency	TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr10:33510663G>A	ENST00000265371.4	-	9	1791	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	NRP1_ENST00000395995.1_Silent_p.Y422Y|NRP1_ENST00000374875.1_Silent_p.Y241Y|NRP1_ENST00000374867.2_Silent_p.Y422Y|NRP1_ENST00000374822.4_Silent_p.Y422Y|NRP1_ENST00000374821.5_Silent_p.Y422Y|NRP1_ENST00000374816.3_Silent_p.Y422Y|NRP1_ENST00000374823.5_Silent_p.Y422Y|NRP1_ENST00000432372.2_Silent_p.Y422Y			O14786	NRP1_HUMAN	neuropilin 1	422	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|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)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|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)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCTTGCAACCGTATACTTCAA	0.393													A|||	1798	0.359026	0.1793	0.4337	5008	,	,		18709	0.623		0.2485	False		,,,				2504	0.3906				Melanoma(104;886 1489 44640 45944 51153)												0								ENSG00000099250	A	,,	917,3489	738.2+/-411.0	99,719,1385	150	145	146		1266,1266,1266	-0.6	0.8	10	dbSNP_111	146	2285,6315	706.9+/-405.6	302,1681,2317	no	coding-synonymous,coding-synonymous,coding-synonymous	NRP1	NM_001024628.2,NM_001024629.2,NM_003873.5	,,	401,2400,3702	AA,AG,GG		26.5698,20.8125,24.6194	,,	422/645,422/610,422/924	33510663	3202,9804	2203	4300	6503	NRP1	SO:0001819	synonymous_variant	0			-	HGNC	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1266C>T	10.37:g.33510663G>A		Somatic	0	96	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	34	0	0	23	0.00	0	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.Y422	ENST00000265371.4	37	c.1266	CCDS7177.1	10																																																																																			-	pirsf_Neuropilin,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.393	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	protein_coding	OTTHUMT00000051203.2	G		rs2229935		33510663	-1	no_errors	ENST00000265371	ensembl	human	known	74_37	silent	SNP	0.998	A	A	33510663	G	A	33510663	2	1	152	1	0	0	0	0	0	0	0	1	10662	1140	40	1		1	NRP1	10	33510663	Silent	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		33510663	102024084	17	11082											
RBP3	5949	genome.wustl.edu	37	chr10	48388773	48388773	+	Frame_Shift_Del	DEL	A	A	-													ccagctcgccagggctgtggAacactagcaagcggtggtcc							TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr10:48388773delA	ENST00000224600.4	-	1	2218	c.2105delT	c.(2104-2106)ttcfs	p.F702fs	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	702	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGGCTGTGGAACACTAGCAA	0.632																																																	0								ENSG00000107618						35	39	38					10																	48388773		2202	4296	6498	RBP3	SO:0001589	frameshift_variant	0				HGNC	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2105delT	10.37:g.48388773delA	ENSP00000224600:p.Phe702fs	Somatic	0	47	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q0QD34|Q5VSR0|Q8IXN0	Frame_Shift_Del	DEL	35	0	0	13	0.00	0	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.F702fs	ENST00000224600.4	37	c.2105	CCDS7218.1	10																																																																																			-	NULL		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	protein_coding	OTTHUMT00000047888.1	A	NM_002900			48388773	-1	no_errors	ENST00000224600	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	48388773	A	-	48388773	7	5	152	1	0	1	0	1	0	0	0	0	13165	246	9	0	1654	0	RBP3	10	48388773	Frame_Shift_Del	DEL	A	TCGA-IE-A4EI-01A-11D-A24N-09	14878110	48388773	87145974	18	11083											
HERC4	26091	genome.wustl.edu	37	chr10	69832687	69832687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagctgtcctagatcattaCatccacatgtgtacactgtt	6	11	1	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr10:69832687C>T	ENST00000395198.3	-	3	426	c.179G>A	c.(178-180)tGt>tAt	p.C60Y	HERC4_ENST00000373700.4_Missense_Mutation_p.C60Y|HERC4_ENST00000395187.2_Missense_Mutation_p.C60Y|HERC4_ENST00000412272.2_Missense_Mutation_p.C60Y|HERC4_ENST00000492996.2_Missense_Mutation_p.C60Y	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	60					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TAGATCATTACATCCACATGT	0.323																																																	0								ENSG00000148634						118	114	116					10																	69832687		2203	4300	6503	HERC4	SO:0001583	missense	0			-	HGNC	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.179G>A	10.37:g.69832687C>T	ENSP00000378624:p.Cys60Tyr	Somatic	0	93	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	39	0	0	28	0.00	0	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.C60Y	ENST00000395198.3	37	c.179	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774693	0.49786	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000395187;ENST00000513996;ENST00000492996	D;D;D;T;D;T	0.85556	-2.0;-2.0;-2.0;-1.32;-2.0;-1.32	4.78	4.78	0.61160	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.106872	0.64402	D	0.000003	D	0.88347	0.6412	L	0.39085	1.19	0.80722	D	1	D;D;B;B;B	0.69078	0.997;0.997;0.012;0.023;0.273	D;D;B;B;B	0.83275	0.931;0.996;0.011;0.052;0.374	D	0.87460	0.2407	9	.	.	.	.	16.0089	0.80383	0.0:1.0:0.0:0.0	.	60;60;60;60;60	Q5GLZ8-3;Q5GLZ8-4;A8K9U4;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	Y	60	ENSP00000416504:C60Y;ENSP00000378624:C60Y;ENSP00000362804:C60Y;ENSP00000378614:C60Y;ENSP00000427191:C60Y;ENSP00000422383:C60Y	.	C	-	2	0	HERC4	69502693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.745000	0.68672	2.191000	0.70037	0.655000	0.94253	TGT	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.323	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	protein_coding	OTTHUMT00000359262.1	C	NM_015601	-		69832687	-1	no_errors	ENST00000395198	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69832687	C	T	69832687	3	4	152	1	0	0	0	0	1	0	0	0	7062	478	17	2	3090	2	HERC4	10	69832687	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09	21443914	69832687	65702060	19	11084											
SRGAP1	57522	genome.wustl.edu	37	chr12	64491140	64491140	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctaaggaaagatttaacgatCtgatttcttgtatcagtaag	8	5	3	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr12:64491140C>G	ENST00000355086.3	+	15	2322	c.1798C>G	c.(1798-1800)Ctg>Gtg	p.L600V	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L577V|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L537V	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	600	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTAACGATCTGATTTCTTG	0.423																																																	0								ENSG00000196935						88	85	86					12																	64491140		2203	4300	6503	SRGAP1	SO:0001583	missense	0			-	HGNC	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1798C>G	12.37:g.64491140C>G	ENSP00000347198:p.Leu600Val	Somatic	0	42	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	21	0	0	25	43.18	19	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L600V	ENST00000355086.3	37	c.1798	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880779	0.72294	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21191	2.02;2.02;2.02	5.48	4.59	0.56863	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.29314	U	0.012505	T	0.39545	0.1082	M	0.67953	2.075	0.58432	D	0.999999	P;B	0.46395	0.877;0.369	P;B	0.56916	0.809;0.26	T	0.14227	-1.0480	9	.	.	.	.	14.347	0.66672	0.0:0.9288:0.0:0.0712	.	600;537	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	V	600;577;537	ENSP00000347198:L600V;ENSP00000350480:L577V;ENSP00000437948:L537V	.	L	+	1	2	SRGAP1	62777407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.136000	0.42121	1.452000	0.47756	0.655000	0.94253	CTG	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.423	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	protein_coding	OTTHUMT00000400896.1	C		-		64491140	1	no_errors	ENST00000355086	ensembl	human	known	74_37	missense	SNP	1.000	G	G	64491140	C	G	64491140	3	3	152	1	0	0	0	0	1	0	0	0	15152	912	32	4	1856	4	SRGAP1	12	64491140	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09		64491140	69360755	20	11085											
ABHD4	63874	genome.wustl.edu	37	chr14	23078791	23078791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggtgaagatgcagcGgccggattcctatgtccgag	13	8	0	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr14:23078791G>A	ENST00000428304.2	+	6	984	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	305					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AAGATGCAGCGGCCGGATTCC	0.493																																																	0								ENSG00000100439						83	74	77					14																	23078791		2203	4300	6503	ABHD4	SO:0001583	missense	0			-	HGNC	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.914G>A	14.37:g.23078791G>A	ENSP00000414558:p.Arg305Gln	Somatic	0	54	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	17	64.58	B4DDH7|Q9H9E0	Missense_Mutation	SNP	31	0	0	24	33.33	12	pfam_AB_hydrolase_1,prints_AB_hydrolase_1	p.R305Q	ENST00000428304.2	37	c.914	CCDS9572.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.606410	0.96626	.	.	ENSG00000100439	ENST00000428304	D	0.84370	-1.84	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91561	0.5264	10	0.39692	T	0.17	-21.6042	16.8703	0.86039	0.0:0.0:1.0:0.0	.	305	Q8TB40	ABHD4_HUMAN	Q	305	ENSP00000414558:R305Q	ENSP00000414558:R305Q	R	+	2	0	ABHD4	22148631	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.763000	0.74955	2.570000	0.86706	0.643000	0.83706	CGG	-	pfam_AB_hydrolase_1		0.493	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD4	protein_coding	OTTHUMT00000071623.3	G		-		23078791	1	no_errors	ENST00000428304	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23078791	G	A	23078791	3	1	152	1	0	0	0	0	1	0	0	0	84	1116	39	1	936	1	ABHD4	14	23078791	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		23078791	84270749	21	11086											
C14orf138	79609	genome.wustl.edu	37	chr14	50579351	50579351	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgattttttctttctgatGtatataatatgaatatcttc	4	6	3	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr14:50579351G>T	ENST00000395860.2	-	5	661	c.657C>A	c.(655-657)taC>taA	p.Y219*	VCPKMT_ENST00000395859.2_Intron	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN	valosin containing protein lysine (K) methyltransferase	219					peptidyl-lysine trimethylation (GO:0018023)	cytoplasm (GO:0005737)	protein-lysine N-methyltransferase activity (GO:0016279)										TCTTTCTGATGTATATAATAT	0.333																																																	0								ENSG00000100483						58	52	54					14																	50579351		1804	4043	5847	VCPKMT	SO:0001587	stop_gained	0			-	HGNC	AK023982	CCDS9696.2, CCDS41951.1	14q21.3	2013-09-30	2013-09-30	2013-09-30	ENSG00000100483	ENSG00000100483			20352	protein-coding gene	gene with protein product		615260	"chromosome 14 open reading frame 138", "methyltransferase like 21D"	C14orf138, METTL21D		22948820	Standard	NR_049738		Approved	VCP-KMT	uc001wxo.1	Q9H867	OTTHUMG00000029531	ENST00000395860.2:c.657C>A	14.37:g.50579351G>T	ENSP00000379201:p.Tyr219*	Somatic	0	32	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B7ZLA3|B7ZLA4|Q2M2X3|Q86T12	Nonsense_Mutation	SNP	48	0	0	49	0.00	0	pfam_Nicotinamide_N-MeTfrase-like	p.Y219*	ENST00000395860.2	37	c.657	CCDS9696.2	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525369	0.85600	.	.	ENSG00000100483	ENST00000358490;ENST00000395860	.	.	.	5.45	3.6	0.41247	.	1.220290	0.06044	U	0.655457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.8293	7.7882	0.29103	0.1421:0.0:0.7252:0.1327	.	.	.	.	X	152;219	.	ENSP00000351279:Y152X	Y	-	3	2	METTL21D	49649101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.080000	0.30779	1.426000	0.47256	0.655000	0.94253	TAC	-	NULL		0.333	VCPKMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPKMT	protein_coding	OTTHUMT00000276877.1	G	NM_024558	-		50579351	-1	no_errors	ENST00000395860	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	50579351	G	T	50579351	4	4	152	1	0	0	0	0	0	1	0	0	1748	1372	48	3	40	3	C14orf138	14	50579351	Nonsense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	27500560	50579351	56770189	22	11087											
HERC2	8924	genome.wustl.edu	37	chr15	28501459	28501459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgactaatggcagcaTgcaactgaaaggagaaaaac	11	8	0	3			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr15:28501459T>G	ENST00000261609.7	-	18	2630	c.2522A>C	c.(2521-2523)cAt>cCt	p.H841P		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)		AATGGCAGCATGCAACTGAAA	0.428																																																	0								ENSG00000128731						12	12	12					15																	28501459		2111	4027	6138	HERC2	SO:0001583	missense	0			-	HGNC	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.2522A>C	15.37:g.28501459T>G	ENSP00000261609:p.His841Pro	Somatic	0	116	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	105	20.90		Missense_Mutation	SNP	38	0	0	71	17.24	15	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.H841P	ENST00000261609.7	37	c.2522	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439942	0.63067	.	.	ENSG00000128731	ENST00000261609	T	0.42513	0.97	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.71581	2.175	0.80722	D	1	D	0.57571	0.98	D	0.64321	0.924	T	0.62923	-0.6751	10	0.45353	T	0.12	.	15.2929	0.73879	0.0:0.0:0.0:1.0	.	841	O95714	HERC2_HUMAN	P	841	ENSP00000261609:H841P	ENSP00000261609:H841P	H	-	2	0	HERC2	26175054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.648000	0.83479	2.022000	0.59522	0.441000	0.28932	CAT	-	NULL		0.428	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	T	NM_004667	-		28501459	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	1.000	G	G	28501459	T	G	28501459	3	3	152	1	0	0	0	0	1	0	0	0	7060	1464	51	5	12286	5	HERC2	15	28501459	Missense_Mutation	SNP	T	TCGA-IE-A4EI-01A-11D-A24N-09		28501459	74029933	23	11088											
ITPKA	3706	genome.wustl.edu	37	chr15	41793952	41793952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgtgcctgccttccacGgcgtggtggagcgcgacggc	17	14	0	0			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr15:41793952G>A	ENST00000260386.5	+	3	759	c.706G>A	c.(706-708)Ggc>Agc	p.G236S		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	236					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGCCTTCCACGGCGTGGTGGA	0.672																																																	0								ENSG00000137825						32	31	31					15																	41793952		2203	4300	6503	ITPKA	SO:0001583	missense	0			-	HGNC	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.706G>A	15.37:g.41793952G>A	ENSP00000260386:p.Gly236Ser	Somatic	0	31	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	Q8TAN3	Missense_Mutation	SNP	27	0	0	29	30.95	13	pfam_IPK	p.G236S	ENST00000260386.5	37	c.706	CCDS10076.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.649259	0.96714	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T;T	0.19532	2.14;2.14	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57648	-0.7775	10	0.87932	D	0	-2.303	18.6028	0.91255	0.0:0.0:1.0:0.0	.	236	P23677	IP3KA_HUMAN	S	131;236	ENSP00000396560:G131S;ENSP00000260386:G236S	ENSP00000260386:G236S	G	+	1	0	ITPKA	39581244	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.398000	0.81561	0.462000	0.41574	GGC	-	NULL		0.672	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	protein_coding	OTTHUMT00000252695.3	G	NM_002220	-		41793952	1	no_errors	ENST00000260386	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41793952	G	A	41793952	3	1	152	1	0	0	0	0	1	0	0	0	7919	1116	39	1	716	1	ITPKA	15	41793952	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	13292493	41793952	60737440	24	11089											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1814328	1814328	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtgccgcgggcgtcaacctGagcgggtggaggcccaatga	17	11	1	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr16:1814328G>C	ENST00000250894.4	+	19	2302	c.2145G>C	c.(2143-2145)ctG>ctC	p.L715L	MAPK8IP3_ENST00000356010.5_Silent_p.L709L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	715					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCGTCAACCTGAGCGGGTGGA	0.716																																																	0								ENSG00000138834						13	19	17					16																	1814328		2002	4139	6141	MAPK8IP3	SO:0001819	synonymous_variant	0			-	HGNC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2145G>C	16.37:g.1814328G>C		Somatic	0	45	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	31	0	0	19	36.67	11	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.L715	ENST00000250894.4	37	c.2145	CCDS10442.2	16																																																																																			-	NULL		0.716	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	protein_coding	OTTHUMT00000250508.2	G	NM_001040439	-		1814328	1	no_errors	ENST00000250894	ensembl	human	known	74_37	silent	SNP	1.000	C	C	1814328	G	C	1814328	2	2	152	1	0	0	0	0	0	0	0	1	9288	1277	45	4		4	MAPK8IP3	16	1814328	Silent	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		1814328	88540425	25	11090											
ZZEF1	23140	genome.wustl.edu	37	chr17	4007959	4007959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttctgtctgactgacGccatggacaagatgagggat	14	8	2	4			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr17:4007959G>T	ENST00000381638.2	-	8	1665	c.1541C>A	c.(1540-1542)gCg>gAg	p.A514E	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	514							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCTGACTGACGCCATGGACAA	0.463																																																	0								ENSG00000074755						152	130	138					17																	4007959		2203	4300	6503	ZZEF1	SO:0001583	missense	0			-	HGNC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1541C>A	17.37:g.4007959G>T	ENSP00000371051:p.Ala514Glu	Somatic	0	55	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	34	0	0	38	0.00	0	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.A514E	ENST00000381638.2	37	c.1541	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551104	0.45383	.	.	ENSG00000074755	ENST00000381638	T	0.42513	0.97	5.65	5.65	0.86999	.	0.101605	0.64402	D	0.000002	T	0.26629	0.0651	N	0.17082	0.46	0.51767	D	0.999934	P;P	0.39216	0.664;0.533	B;B	0.34242	0.178;0.086	T	0.05209	-1.0899	10	0.27082	T	0.32	-6.7341	14.8846	0.70557	0.0:0.0:0.8566:0.1434	.	514;514	O43149-3;O43149	.;ZZEF1_HUMAN	E	514	ENSP00000371051:A514E	ENSP00000371051:A514E	A	-	2	0	ZZEF1	3954708	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	7.365000	0.79537	2.824000	0.97209	0.655000	0.94253	GCG	-	NULL		0.463	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	protein_coding	OTTHUMT00000207480.1	G	NM_015113	-		4007959	-1	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	SNP	0.999	T	T	4007959	G	T	4007959	3	4	152	1	0	0	0	0	1	0	0	0	18262	1087	38	3	7536	3	ZZEF1	17	4007959	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		4007959	77187251	26	11091											
TP53	7157	genome.wustl.edu	37	chr17	7574019	7574020	+	Frame_Shift_Del	DEL	CT	CT	-													tctcggaacatctcgaagcgCtcacgcccacggatctgcag							TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr17:7574019_7574020delCT	ENST00000269305.4	-	10	1196_1197	c.1007_1008delAG	c.(1006-1008)gagfs	p.E336fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.E336fs|TP53_ENST00000420246.2_3'UTR|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	336	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.I332fs*5(1)|p.?(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)	TCTCGAAGCGCTCACGCCCACG	0.52		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	10	Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|large_intestine(1)|stomach(1)	GRCh37	CI084335	TP53	I		ENSG00000141510																																			TP53	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;		HGNC	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.1007_1008delAG	17.37:g.7574019_7574020delCT	ENSP00000269305:p.Glu336fs	Somatic	0	26	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	3	78.57	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	33	0	0	7	81.08	30	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E336fs	ENST00000269305.4	37	c.1008_1007	CCDS11118.1	17																																																																																			-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.52	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	CT	NM_000546			7574020	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	0.004:0.009	-	-	7574020	CT	-	7574019	7	5	152	1	0	1	0	1	0	0	0	0	16388	796	28	0	181	0	TP53	17	7574019	Frame_Shift_Del	DEL	CT	TCGA-IE-A4EI-01A-11D-A24N-09	3566060	7574019	73621191	27	11092											
FLCN	201163	genome.wustl.edu	37	chr17	17129630	17129630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctgcagcaagtgaccGgcagccctgtccatgaaaag	12	13	0	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr17:17129630G>A	ENST00000285071.4	-	5	710	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.R86W	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	86					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCAAGTGACCGGCAGCCCTGT	0.507									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0								ENSG00000154803						71	76	74					17																	17129630		2203	4300	6503	FLCN	SO:0001583	missense	0	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	-	HGNC	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.256C>T	17.37:g.17129630G>A	ENSP00000285071:p.Arg86Trp	Somatic	0	68	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	29	49.12	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	23	0	0	14	56.25	18	pfam_Folliculin	p.R86W	ENST00000285071.4	37	c.256	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046092	0.75846	.	.	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064;ENST00000389168;ENST00000389171	D;D;D	0.93488	-3.23;-3.04;-1.77	5.45	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	L	0.50333	1.59	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.984	D	0.95140	0.8263	10	0.87932	D	0	-11.4826	12.4895	0.55891	0.0:0.0:0.6961:0.3039	.	86;86;86	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	W	86;86;33;86;86	ENSP00000285071:R86W;ENSP00000373821:R86W;ENSP00000410410:R33W	ENSP00000285071:R86W	R	-	1	2	FLCN	17070355	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.215000	0.58534	1.266000	0.44231	0.563000	0.77884	CGG	-	NULL		0.507	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	protein_coding	OTTHUMT00000131577.1	G	NM_144606	-		17129630	-1	no_errors	ENST00000285071	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17129630	G	A	17129630	3	1	152	1	0	0	0	0	1	0	0	0	5923	1115	39	1	1681	1	FLCN	17	17129630	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	9555611	17129630	64065580	28	11093											
HNF1B	6928	genome.wustl.edu	37	chr17	36091616	36091616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttggaggagaggagctggGctggtggtggggggagccgt	24	4	0	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr17:36091616G>T	ENST00000225893.4	-	4	1376	c.1015C>A	c.(1015-1017)Ccc>Acc	p.P339T	HNF1B_ENST00000560016.1_Missense_Mutation_p.P339T|HNF1B_ENST00000561193.1_Missense_Mutation_p.P313T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P313T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	339					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|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)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGGAGCTGGGCTGGTGGTGG	0.597																																					Colon(71;102 1179 9001 27917 43397)												0								ENSG00000108753						78	60	66					17																	36091616		2203	4300	6503	HNF1B	SO:0001583	missense	0			-	HGNC	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1015C>A	17.37:g.36091616G>T	ENSP00000225893:p.Pro339Thr	Somatic	0	65	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	B4DKM3|E0YMJ9	Missense_Mutation	SNP	26	0	0	17	37.04	10	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P339T	ENST00000225893.4	37	c.1015	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982521	0.34942	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.97505	-4.41;-4.41	5.2	4.21	0.49690	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.095904	0.64402	D	0.000001	D	0.93006	0.7774	N	0.25426	0.745	0.45366	D	0.998353	B;B;B	0.15473	0.001;0.013;0.003	B;B;B	0.17979	0.02;0.011;0.005	D	0.89538	0.3790	10	0.33940	T	0.23	-34.684	11.6407	0.51230	0.09:0.0:0.91:0.0	.	313;339;339	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	T	339;313;339;227	ENSP00000225893:P339T;ENSP00000412212:P313T	ENSP00000225893:P339T	P	-	1	0	HNF1B	33165729	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.710000	0.37920	1.376000	0.46267	0.650000	0.86243	CCC	-	pfam_HNF1b_C		0.597	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	protein_coding	OTTHUMT00000256807.3	G	NM_000458	-		36091616	-1	no_errors	ENST00000225893	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36091616	G	T	36091616	3	4	152	1	0	0	0	0	1	0	0	0	7254	1203	42	3	682	3	HNF1B	17	36091616	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	18961986	36091616	45103594	29	11094											
STAT5A	6776	genome.wustl.edu	37	chr17	40441970	40441970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctgcagaagaaggCggagcaccaggtgggggaag	20	7	0	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr17:40441970C>T	ENST00000345506.4	+	4	857	c.215C>T	c.(214-216)gCg>gTg	p.A72V	STAT5A_ENST00000452307.2_Missense_Mutation_p.A72V|STAT5A_ENST00000546010.2_Missense_Mutation_p.A72V|STAT5A_ENST00000588868.1_Missense_Mutation_p.A72V|STAT5A_ENST00000590949.1_Missense_Mutation_p.A72V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	72					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CAGAAGAAGGCGGAGCACCAG	0.627																																																	0								ENSG00000126561						58	49	52					17																	40441970		2203	4300	6503	STAT5A	SO:0001583	missense	0			-	HGNC	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.215C>T	17.37:g.40441970C>T	ENSP00000341208:p.Ala72Val	Somatic	0	34	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	Q1KLZ6	Missense_Mutation	SNP	25	0	0	24	33.33	12	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.A72V	ENST00000345506.4	37	c.215	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.400263	0.97537	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307;ENST00000444283	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.5	5.5	0.81552	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.72353	2.195	0.80722	D	1	D;P;P	0.65815	0.995;0.911;0.66	D;P;P	0.65323	0.934;0.608;0.49	T	0.72456	-0.4288	10	0.52906	T	0.07	-1.882	19.3961	0.94607	0.0:1.0:0.0:0.0	.	72;74;72	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	V	72;72;74;72;72	ENSP00000341208:A72V;ENSP00000443107:A72V;ENSP00000400320:A72V;ENSP00000407327:A72V	ENSP00000341208:A72V	A	+	2	0	STAT5A	37695496	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	7.481000	0.81124	2.584000	0.87258	0.557000	0.71058	GCG	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.627	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	protein_coding	OTTHUMT00000319804.1	C	NM_003152	-		40441970	1	no_errors	ENST00000345506	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40441970	C	T	40441970	3	4	152	1	0	0	0	0	1	0	0	0	15275	768	27	1	221	1	STAT5A	17	40441970	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09	4350354	40441970	40753240	30	11095											
MYH14	79784	genome.wustl.edu	37	chr19	50813026	50813026	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccggagcctgaggggtcCccaccagcccacccccagtg	11	20	0	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr19:50813026C>A	ENST00000596571.1	+	40	5967	c.5967C>A	c.(5965-5967)tcC>tcA	p.S1989S	MYH14_ENST00000262269.8_Silent_p.S2030S|MYH14_ENST00000440075.2_Silent_p.S2030S|MYH14_ENST00000376970.2_Silent_p.S2022S|MYH14_ENST00000601313.1_Silent_p.S2030S|MYH14_ENST00000598205.1_Silent_p.S1997S|MYH14_ENST00000425460.1_Silent_p.S1997S|CTB-191K22.5_ENST00000595563.1_RNA			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1989					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)			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)		CTGAGGGGTCCCCACCAGCCC	0.697																																																	0								ENSG00000105357						16	22	20					19																	50813026		1978	4137	6115	MYH14	SO:0001819	synonymous_variant	0			-	HGNC	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.5967C>A	19.37:g.50813026C>A		Somatic	0	35	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	16	0	0	27	32.50	13	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S2030	ENST00000596571.1	37	c.6090	CCDS59411.1	19																																																																																			-	NULL		0.697	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729	-		50813026	1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	SNP	0.001	A	A	50813026	C	A	50813026	2	1	152	1	0	0	0	0	0	0	0	1	10035	610	22	3		3	MYH14	19	50813026	Silent	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09		50813026	8315957	31	11096											
CDH26	60437	genome.wustl.edu	37	chr20	58544078	58544078	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcttactaagcaaacaaaGgtgaggtttggaagtcagtt	11	5	2	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr20:58544078G>T	ENST00000244047.5	+	2	437	c.126G>T	c.(124-126)aaG>aaT	p.K42N	CDH26_ENST00000348616.4_Splice_Site_p.K42N			Q8IXH8	CAD26_HUMAN	cadherin 26	42	Cadherin 1. {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(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AGCAAACAAAGGTGAGGTTTG	0.328																																																	0								ENSG00000124215						65	77	73					20																	58544078		2203	4300	6503	CDH26	SO:0001630	splice_region_variant	0			-	HGNC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.126+1G>T	20.37:g.58544078G>T		Somatic	0	79	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	30	0	0	78	0.00	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K42N	ENST00000244047.5	37	c.126		20	.	.	.	.	.	.	.	.	.	.	G	9.672	1.147002	0.21288	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.60171	0.21;0.33	3.15	2.18	0.27775	.	0.417144	0.18060	N	0.152998	T	0.41442	0.1159	L	0.27053	0.805	0.80722	D	1	P	0.49090	0.919	B	0.42625	0.393	T	0.27468	-1.0073	10	0.59425	D	0.04	.	6.5363	0.22355	0.141:0.0:0.859:0.0	.	42	Q8IXH8-4	.	N	42	ENSP00000244047:K42N;ENSP00000339390:K42N	ENSP00000244047:K42N	K	+	3	2	CDH26	57977473	0.003000	0.15002	0.002000	0.10522	0.257000	0.26127	0.187000	0.16998	0.660000	0.30964	-0.467000	0.05162	AAG	-	NULL		0.328	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		G	NM_177980	-	Missense_Mutation	58544078	1	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	SNP	0.003	T	T	58544078	G	T	58544078	5	4	152	1	0	0	0	0	0	0	1	0	3112	1014	35	3	132	3	CDH26	20	58544078	Splice_Site	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09		58544078	4481442	32	11097											
RIMBP3	85376	genome.wustl.edu	37	chr22	20458608	20458608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgggatgtagctgtcCggaatctgctccacgaagtt	12	11	1	0			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chr22:20458608C>A	ENST00000426804.1	-	1	3178	c.2694G>T	c.(2692-2694)ccG>ccT	p.P898P	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	898	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGTAGCTGTCCGGAATCTGCT	0.587																																																	0								ENSG00000196622						11	19	17					22																	20458608		1888	4059	5947	RIMBP3	SO:0001819	synonymous_variant	0			-	HGNC	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2694G>T	22.37:g.20458608C>A		Somatic	0	171	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	180	14.69	Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	32	0	0	34	15.00	6	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.P898	ENST00000426804.1	37	c.2694	CCDS46665.1	22																																																																																			-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	protein_coding	OTTHUMT00000318945.2	C	NM_015672	-		20458608	-1	no_errors	ENST00000426804	ensembl	human	known	74_37	silent	SNP	0.841	A	A	20458608	C	A	20458608	2	1	152	1	0	0	0	0	0	0	0	1	13372	639	23	3		3	RIMBP3	22	20458608	Silent	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09		20458608	30845958	33	11098											
HUWE1	10075	genome.wustl.edu	37	chrX	53573735	53573735	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaagtctgtactgctgctgCccccatcactcaccttcgct	6	16	3	0			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chrX:53573735C>G	ENST00000342160.3	-	68	11145	c.10688G>C	c.(10687-10689)gGc>gCc	p.G3563A	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.G3563A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3563					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCTGCTGCCCCCATCACT	0.493																																																	0								ENSG00000086758						69	55	60					X																	53573735		2203	4300	6503	HUWE1	SO:0001583	missense	0			-	HGNC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10688G>C	X.37:g.53573735C>G	ENSP00000340648:p.Gly3563Ala	Somatic	0	34	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	23	0	0	38	28.30	15	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.G3563A	ENST00000342160.3	37	c.10688	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	9.376	1.071833	0.20147	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.34472	1.36;1.36	5.44	5.44	0.79542	.	1.198190	0.05765	N	0.605731	T	0.22126	0.0533	N	0.08118	0	0.30130	N	0.804909	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.07424	-1.0773	10	0.09590	T	0.72	.	12.1782	0.54198	0.1708:0.8291:0.0:0.0	.	3563;3547	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	A	3563	ENSP00000340648:G3563A;ENSP00000262854:G3563A	ENSP00000262854:G3563A	G	-	2	0	HUWE1	53590460	1.000000	0.71417	0.984000	0.44739	0.512000	0.34134	3.832000	0.55783	2.286000	0.76751	0.538000	0.68166	GGC	-	NULL		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	C	XM_497119	-		53573735	-1	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	SNP	1.000	G	G	53573735	C	G	53573735	3	3	152	1	0	0	0	0	1	0	0	0	7463	739	26	4	2500	4	HUWE1	23	53573735	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09		53573735	101696825	34	11099											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106061981	106061981	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccagacaccagattctcaAgtttacttgtcaattgcatg	6	11	2	2			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chrX:106061981A>T	ENST00000357242.5	+	2	393	c.219A>T	c.(217-219)caA>caT	p.Q73H	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.Q73H|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q73H|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.Q73H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	73							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						CAGATTCTCAAGTTTACTTGT	0.358																																																	0								ENSG00000133138						152	126	135					X																	106061981		2203	4299	6502	TBC1D8B	SO:0001583	missense	0			-	HGNC	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.219A>T	X.37:g.106061981A>T	ENSP00000349781:p.Gln73His	Somatic	0	73	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	65	27.78	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	31	0	0	52	23.53	16	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.Q73H	ENST00000357242.5	37	c.219	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735513	0.69189	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.83	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.73962	2.25	0.46654	D	0.999148	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.79784	0.993;0.99;0.993	T	0.35176	-0.9799	10	0.66056	D	0.02	-15.923	8.021	0.30408	0.8486:0.0:0.1514:0.0	.	73;73;73	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	H	73	ENSP00000349781:Q73H;ENSP00000310675:Q73H;ENSP00000421375:Q73H;ENSP00000276175:Q73H	ENSP00000276175:Q73H	Q	+	3	2	TBC1D8B	105948637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.005000	0.29834	1.956000	0.56807	0.486000	0.48141	CAA	-	NULL		0.358	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	A	NM_017752	-		106061981	1	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	106061981	A	T	106061981	3	4	152	1	0	0	0	0	1	0	0	0	15633	69	3	5	225	5	TBC1D8B	23	106061981	Missense_Mutation	SNP	A	TCGA-IE-A4EI-01A-11D-A24N-09	52488246	106061981	49208579	35	11100											
DDX26B	203522	genome.wustl.edu	37	chrX	134713794	134713794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttcctgtcaaaatctgCtccatcagagcttataaata	6	10	3	1			TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chrX:134713794C>T	ENST00000370752.4	+	15	2424	c.2090C>T	c.(2089-2091)gCt>gTt	p.A697V	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	697										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAATCTGCTCCATCAGAG	0.443																																																	0								ENSG00000165359						75	69	71					X																	134713794		2203	4300	6503	DDX26B	SO:0001583	missense	0			-	HGNC	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2090C>T	X.37:g.134713794C>T	ENSP00000359788:p.Ala697Val	Somatic	0	38	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	43	28.33	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	25	0	0	42	26.32	15	pfscan_VWF_A	p.A697V	ENST00000370752.4	37	c.2090	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	C	0.958	-0.704301	0.03255	.	.	ENSG00000165359	ENST00000370752	T	0.31247	1.5	5.67	0.148	0.14843	.	1.165760	0.05987	N	0.645436	T	0.25158	0.0611	L	0.41236	1.265	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.31475	-0.9942	10	0.19147	T	0.46	4.7988	10.0589	0.42261	0.0:0.5404:0.0:0.4596	.	697;697	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	V	697	ENSP00000359788:A697V	ENSP00000359788:A697V	A	+	2	0	DDX26B	134541460	0.737000	0.28175	0.002000	0.10522	0.187000	0.23431	1.143000	0.31553	-0.072000	0.12864	-0.191000	0.12829	GCT	-	NULL		0.443	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	protein_coding	OTTHUMT00000058420.1	C	NM_182540	-		134713794	1	no_errors	ENST00000370752	ensembl	human	known	74_37	missense	SNP	0.001	T	T	134713794	C	T	134713794	3	4	152	1	0	0	0	0	1	0	0	0	4355	797	28	2	2148	2	DDX26B	23	134713794	Missense_Mutation	SNP	C	TCGA-IE-A4EI-01A-11D-A24N-09	28651813	134713794	20556766	36	11101											
MAGEC3	139081	genome.wustl.edu	37	chrX	140953333	140953333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgaggctttttctgaGgggtggaacttcagatcagc	16	6	3	3	rs149404251		TCGA-IE-A4EI-01A-11D-A24N-09	TCGA-IE-A4EI-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	522dc834-8367-4f49-b93b-fcba91a2de7e	9f3e9eb7-1873-4f33-a9c8-671eae8cc921	g.chrX:140953333G>T	ENST00000298296.1	+	2	200	c.200G>T	c.(199-201)aGg>aTg	p.R67M		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	67								p.R67M(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTCTGAGGGGTGGAACT	0.512																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000165509						206	170	182					X																	140953333		2203	4300	6503	MAGEC3	SO:0001583	missense	0			-	HGNC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.200G>T	X.37:g.140953333G>T	ENSP00000298296:p.Arg67Met	Somatic	0	98	0		0.685949402370859				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	74	32.11	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	28	0	0	43	39.44	28	pfam_MAGE,pfscan_MAGE	p.R67M	ENST00000298296.1	37	c.200	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224918	0.22457	.	.	ENSG00000165509	ENST00000298296	T	0.08546	3.08	1.96	-3.92	0.04155	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.38106	0.265	T	0.30794	-0.9966	9	0.87932	D	0	.	4.5692	0.12202	0.5434:0.1764:0.2802:0.0	.	67	Q8TD91	MAGC3_HUMAN	M	67	ENSP00000298296:R67M	ENSP00000298296:R67M	R	+	2	0	MAGEC3	140780999	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.066000	0.03454	-1.761000	0.01310	-0.269000	0.10298	AGG	-	NULL		0.512	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	protein_coding	OTTHUMT00000058606.1	G	NM_138702	-		140953333	1	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	SNP	0.000	T	T	140953333	G	T	140953333	3	4	152	1	0	0	0	0	1	0	0	0	9184	1000	35	3	206	3	MAGEC3	23	140953333	Missense_Mutation	SNP	G	TCGA-IE-A4EI-01A-11D-A24N-09	6239539	140953333	14317227	37	11102											
PHC2	1912	genome.wustl.edu	37	chr1	33820033	33820033	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacggctggatgttagggctCgtgggtacaggcaggccacc	17	10	0	0	rs16835408	byFrequency	TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr1:33820033C>G	ENST00000257118.5	-	8	1577	c.1524G>C	c.(1522-1524)acG>acC	p.T508T	RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T479T|PHC2_ENST00000373422.3_Silent_p.T114T|PHC2_ENST00000419414.2_Silent_p.T509T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	508					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTTAGGGCTCGTGGGTACAG	0.612																																																	0								ENSG00000134686						102	91	95					1																	33820033		2203	4300	6503	PHC2	SO:0001819	synonymous_variant	0			-	HGNC	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1524G>C	1.37:g.33820033C>G		Somatic	0	68	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	13.16	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.T509	ENST00000257118.5	37	c.1527	CCDS378.1	1																																																																																			-	NULL		0.612	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	protein_coding	OTTHUMT00000011895.1	C	NM_198040	-		33820033	-1	no_errors	ENST00000419414	ensembl	human	known	74_37	silent	SNP	1.000	G	G	33820033	C	G	33820033	2	3	153	1	0	0	0	0	0	0	0	1	11819	871	31	4		4	PHC2	1	33820033	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09		33820033	215430588	1	11103											
LPHN2	23266	genome.wustl.edu	37	chr1	82408662	82408662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaactgttagtttttgtgtGtcctgggaccttgaaagcaa	11	6	0	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr1:82408662G>A	ENST00000370728.1	+	8	1052	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	LPHN2_ENST00000335786.5_Missense_Mutation_p.C136Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.C136Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.C140Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.C136Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.C136Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.C136Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.C136Y			O95490	LPHN2_HUMAN	latrophilin 2	136	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTTTTTGTGTGTCCTGGGACC	0.393																																																	0								ENSG00000117114						72	77	75					1																	82408662		2201	4296	6497	LPHN2	SO:0001583	missense	0			-	HGNC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.407G>A	1.37:g.82408662G>A	ENSP00000359763:p.Cys136Tyr	Somatic	0	69	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	107	15.75	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP							pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.C136Y	ENST00000370728.1	37	c.407		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469211|3.469211	0.63625|0.63625	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.76578|.	-1.03;-0.79;-0.73;-0.68;-0.73;-0.69;-0.7;-0.73;-0.72;-0.7;-0.73;-0.69;-0.68;-0.73|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83308|0.83308	0.5226|0.5226	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.75484|.	0.986;0.969;0.986|.	D|D	0.84295|0.84295	0.0502|0.0502	10|5	0.87932|.	D|.	0|.	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136;136;136|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Y|I	140;136;136;136;136;136;136;136;136;136;136;136;136;136|4	ENSP00000359756:C140Y;ENSP00000359763:C136Y;ENSP00000359765:C136Y;ENSP00000359762:C136Y;ENSP00000359760:C136Y;ENSP00000359758:C136Y;ENSP00000353006:C136Y;ENSP00000359750:C136Y;ENSP00000359748:C136Y;ENSP00000322270:C136Y;ENSP00000359752:C136Y;ENSP00000378344:C136Y;ENSP00000271029:C136Y;ENSP00000337306:C136Y|.	ENSP00000271029:C136Y|.	C|V	+|+	2|1	0|0	LPHN2|LPHN2	82181250|82181250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	TGT|GTC	-	pfscan_Olfac-like		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	G	NM_012302	-		82408662	1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82408662	G	A	82408662	3	1	153	1	0	0	0	0	1	0	0	0	8918	1377	48	2	421	2	LPHN2	1	82408662	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	48588629	82408662	166841959	2	11104											
OR10K1	391109	genome.wustl.edu	37	chr1	158435375	158435375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaagtcaataagactgtGgtgagagagttcgtcgtcct	13	7	1	3			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr1:158435375G>A	ENST00000289451.2	+	1	104	c.24G>A	c.(22-24)gtG>gtA	p.V8V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATAAGACTGTGGTGAGAGAGT	0.522																																																	0								ENSG00000173285						90	80	83					1																	158435375		2203	4300	6503	OR10K1	SO:0001819	synonymous_variant	0			-	HGNC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.24G>A	1.37:g.158435375G>A		Somatic	0	70	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	71	14.46	Q6IFS2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V8	ENST00000289451.2	37	c.24	CCDS30897.1	1																																																																																			-	NULL		0.522	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	protein_coding	OTTHUMT00000046367.1	G		-		158435375	1	no_errors	ENST00000289451	ensembl	human	known	74_37	silent	SNP	0.000	A	A	158435375	G	A	158435375	2	1	153	1	0	0	0	0	0	0	0	1	10915	1335	47	2		2	OR10K1	1	158435375	Silent	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	76026713	158435375	90815246	3	11105											
TET3	200424	genome.wustl.edu	37	chr2	74273485	74273485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaccatggggactcacgGcagctaagcgcctcaggggt	15	11	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:74273485G>A	ENST00000409262.3	+	1	36	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	12					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGACTCACGGCAGCTAAGCG	0.617																																																	0								ENSG00000187605						42	44	43					2																	74273485		1945	4145	6090	TET3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.36G>A	2.37:g.74273485G>A		Somatic	0	42	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP							NULL	p.R12	ENST00000409262.3	37	c.36	CCDS46339.1	2																																																																																			-	NULL		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	G		-		74273485	1	no_errors	ENST00000409262	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74273485	G	A	74273485	2	1	153	1	0	0	0	0	0	0	0	1	15778	1190	42	2		2	TET3	2	74273485	Silent	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		74273485	168925888	4	11106											
AOX1	316	genome.wustl.edu	37	chr2	201521613	201521613	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggctctgtgctggtcactCacggtggaattgaaatgggg	15	7	3	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:201521613C>T	ENST00000374700.2	+	27	3365	c.3124C>T	c.(3124-3126)Cac>Tac	p.H1042Y	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1042					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCTGGTCACTCACGGTGGAAT	0.423																																																	0								ENSG00000138356						108	100	103					2																	201521613		2203	4300	6503	AOX1	SO:0001583	missense	0			-	HGNC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3124C>T	2.37:g.201521613C>T	ENSP00000363832:p.His1042Tyr	Somatic	0	67	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP							pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.H1042Y	ENST00000374700.2	37	c.3124	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725876	0.89298	.	.	ENSG00000138356	ENST00000374700	T	0.38560	1.13	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87341	0.2331	10	0.87932	D	0	-37.6267	19.3939	0.94598	0.0:1.0:0.0:0.0	.	1042	Q06278	ADO_HUMAN	Y	1042	ENSP00000363832:H1042Y	ENSP00000363832:H1042Y	H	+	1	0	AOX1	201229858	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.559000	0.73946	2.816000	0.96949	0.561000	0.74099	CAC	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	protein_coding	OTTHUMT00000335844.1	C	NM_001159	-		201521613	1	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201521613	C	T	201521613	3	4	153	1	0	0	0	0	1	0	0	0	729	826	29	2	3230	2	AOX1	2	201521613	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	127248128	201521613	41677760	5	11107											
KIF1A	547	genome.wustl.edu	37	chr2	241697823	241697823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcatagaaggggtctcCgccggtcaccacgttgtcac	13	13	4	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:241697823C>T	ENST00000320389.7	-	25	2667	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	KIF1A_ENST00000498729.2_Missense_Mutation_p.G846R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	837					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.G837R(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AAGGGGTCTCCGCCGGTCACC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000130294						56	66	63					2																	241697823		2149	4250	6399	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2509G>A	2.37:g.241697823C>T	ENSP00000322791:p.Gly837Arg	Somatic	0	49	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G846R	ENST00000320389.7	37	c.2536	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727943	0.89390	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75704	-0.96;-0.96;-0.96	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.81202	0.4773	L	0.36672	1.1	0.80722	D	1	D;D;B	0.89917	0.98;1.0;0.015	P;D;B	0.79108	0.759;0.992;0.031	T	0.80754	-0.1241	10	0.42905	T	0.14	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	846;846;837	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	R	837;846;846;846	ENSP00000322791:G837R;ENSP00000438388:G846R;ENSP00000384231:G846R	ENSP00000322791:G837R	G	-	1	0	KIF1A	241346496	1.000000	0.71417	0.981000	0.43875	0.970000	0.65996	4.679000	0.61649	2.473000	0.83533	0.591000	0.81541	GGA	-	pfam_KIF1B		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	C	NM_138483	-		241697823	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	0.997	T	T	241697823	C	T	241697823	3	4	153	1	0	0	0	0	1	0	0	0	8285	661	23	1	2655	1	KIF1A	2	241697823	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	40176210	241697823	1501550	6	11108											
TTC21A	199223	genome.wustl.edu	37	chr3	39172247	39172247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaggactttctgtgctGcgatctgggcaaactgctcc	12	11	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr3:39172247G>A	ENST00000431162.2	+	18	2530	c.2396G>A	c.(2395-2397)tGc>tAc	p.C799Y	TTC21A_ENST00000301819.6_Missense_Mutation_p.C800Y|TTC21A_ENST00000440121.1_Missense_Mutation_p.C751Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	799										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCTGTGCTGCGATCTGGGC	0.443																																																	0								ENSG00000168026						88	87	87					3																	39172247		1935	4148	6083	TTC21A	SO:0001583	missense	0			-	HGNC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2396G>A	3.37:g.39172247G>A	ENSP00000398211:p.Cys799Tyr	Somatic	0	25	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C800Y	ENST00000431162.2	37	c.2399	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512480	0.00984	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.49139	1.44;0.79;0.79	4.73	2.91	0.33838	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.707775	0.13553	N	0.379329	T	0.26484	0.0647	L	0.28556	0.865	0.34605	D	0.716893	B;P;P	0.45634	0.014;0.834;0.863	B;B;B	0.38378	0.009;0.178;0.272	T	0.36311	-0.9753	10	0.02654	T	1	-2.0729	6.6335	0.22869	0.1687:0.1502:0.6811:0.0	.	751;800;799	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Y	800;782;799;751	ENSP00000301819:C800Y;ENSP00000398211:C799Y;ENSP00000410882:C751Y	ENSP00000301819:C800Y	C	+	2	0	TTC21A	39147251	0.973000	0.33851	0.359000	0.25824	0.560000	0.35617	2.034000	0.41145	0.529000	0.28599	0.563000	0.77884	TGC	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.443	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	protein_coding	OTTHUMT00000377829.1	G	NM_145755	-		39172247	1	no_errors	ENST00000301819	ensembl	human	known	74_37	missense	SNP	0.906	A	A	39172247	G	A	39172247	3	1	153	1	0	0	0	0	1	0	0	0	16694	1319	46	2	2469	2	TTC21A	3	39172247	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		39172247	158850183	7	11109											
CACNA1D	776	genome.wustl.edu	37	chr3	53837530	53837530	+	Frame_Shift_Del	DEL	G	G	-													ctatttcagggacccccactGcttgggggagcaggagtatt							TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr3:53837530delG	ENST00000350061.5	+	44	6027	c.5516delG	c.(5515-5517)tgcfs	p.C1839fs	CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.C1815fs|CACNA1D_ENST00000544977.1_Frame_Shift_Del_p.C218fs|CACNA1D_ENST00000288139.4_Frame_Shift_Del_p.C1859fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1839					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACCCCCACTGCTTGGGGGAG	0.572																																																	0								ENSG00000157388						145	150	149					3																	53837530		2203	4300	6503	CACNA1D	SO:0001589	frameshift_variant	0				HGNC	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5516delG	3.37:g.53837530delG	ENSP00000288133:p.Cys1839fs	Somatic	0	48	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.C1859fs	ENST00000350061.5	37	c.5576	CCDS46848.1	3																																																																																			-	NULL		0.572	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	G	NM_000720			53837530	1	no_errors	ENST00000288139	ensembl	human	known	74_37	frame_shift_del	DEL	0.908	-	-	53837530	G	-	53837530	7	5	153	1	0	1	0	1	0	0	0	0	2543	1319	46	0	5862	0	CACNA1D	3	53837530	Frame_Shift_Del	DEL	G	TCGA-IE-A4EJ-01A-11D-A24N-09	14665283	53837530	144184900	8	11110											
KALRN	8997	genome.wustl.edu	37	chr3	124436186	124436186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccgagacatcatggaggCtctgcagtaccttcacaact	8	12	3	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr3:124436186C>A	ENST00000291478.5	+	26	3441	c.3278C>A	c.(3277-3279)gCt>gAt	p.A1093D	KALRN_ENST00000360013.3_Missense_Mutation_p.A2790D|KALRN_ENST00000428018.2_Missense_Mutation_p.A1061D	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2789					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCATGGAGGCTCTGCAGTAC	0.478																																																	0								ENSG00000160145						97	92	94					3																	124436186		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3278C>A	3.37:g.124436186C>A	ENSP00000291478:p.Ala1093Asp	Somatic	0	18	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A2790D	ENST00000291478.5	37	c.8369	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.958848|4.958848	0.92726|0.92726	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.58210|.	0.35;0.35;0.35|.	5.1|5.1	5.1|5.1	0.69264|0.69264	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|D	0.88433|0.88433	0.6435|0.6435	H|H	0.96691|0.96691	3.865|3.865	0.50467|0.50467	D|D	0.999877|0.999877	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.87578|.	0.998;0.998|.	D|D	0.92160|0.92160	0.5735|0.5735	10|5	0.87932|.	D|.	0|.	.|.	18.7194|18.7194	0.91687|0.91687	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1093;2789|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	D|I	2790;1093;1061|2759	ENSP00000353109:A2790D;ENSP00000291478:A1093D;ENSP00000402419:A1061D|.	ENSP00000291478:A1093D|.	A|L	+|+	2|1	0|0	KALRN|KALRN	125918876|125918876	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.993000|0.993000	0.82548|0.82548	7.647000|7.647000	0.83462|0.83462	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GCT|CTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.478	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000246891.5	C	NM_003947	-		124436186	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124436186	C	A	124436186	3	1	153	1	0	0	0	0	1	0	0	0	7977	797	28	3	8759	3	KALRN	3	124436186	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	70598656	124436186	73586244	9	11111											
POU4F2	5458	genome.wustl.edu	37	chr4	147560580	147560580	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcttccaaccccaccGgtgcgtatttctgcataatc	7	15	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr4:147560580G>A	ENST00000281321.3	+	1	536	c.288G>A	c.(286-288)ccG>ccA	p.P96P	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	96					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	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 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)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CAACCCCACCGGTGCGTATTT	0.592																																																	0								ENSG00000151615						43	48	46					4																	147560580		2199	4300	6499	POU4F2	SO:0001630	splice_region_variant	0			-	HGNC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.288+1G>A	4.37:g.147560580G>A		Somatic	0	43	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P96	ENST00000281321.3	37	c.288	CCDS34074.1	4																																																																																			-	NULL		0.592	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	protein_coding	OTTHUMT00000367020.1	G	NM_004575	-	Silent	147560580	1	no_errors	ENST00000281321	ensembl	human	known	74_37	silent	SNP	1.000	A	A	147560580	G	A	147560580	5	1	153	1	0	0	0	0	0	0	1	0	12281	1130	39	1	290	1	POU4F2	4	147560580	Splice_Site	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		147560580	43593696	10	11112											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215733	140215733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggtctgtgggcgcgggcCatgtggtggcgaaggtacgt	20	9	1	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr5:140215733C>A	ENST00000525929.1	+	1	1765	c.1765C>A	c.(1765-1767)Cat>Aat	p.H589N	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.H589N	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	589	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)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGGGCCATGTGGTGGC	0.662																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						120	115	117					5																	140215733		2203	4300	6503	PCDHA7	SO:0001583	missense	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1765C>A	5.37:g.140215733C>A	ENSP00000436426:p.His589Asn	Somatic	0	97	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	116	20.55	O75282	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H589N	ENST00000525929.1	37	c.1765	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434939	0.12045	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.50813	0.73;0.73	3.67	3.67	0.42095	Cadherin (3);Cadherin-like (1);	0.000000	0.33382	U	0.004976	T	0.58293	0.2112	M	0.88105	2.93	0.22330	N	0.999199	B;B	0.25563	0.106;0.129	B;B	0.35971	0.215;0.089	T	0.59386	-0.7464	10	0.66056	D	0.02	.	11.6628	0.51356	0.0:0.9087:0.0:0.0913	.	589;589	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	N	589	ENSP00000436426:H589N;ENSP00000367365:H589N	ENSP00000367365:H589N	H	+	1	0	PCDHA7	140195917	0.001000	0.12720	1.000000	0.80357	0.062000	0.15995	-0.056000	0.11787	2.028000	0.59812	0.462000	0.41574	CAT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	C	NM_018910	-		140215733	1	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	SNP	0.994	A	A	140215733	C	A	140215733	3	1	153	1	0	0	0	0	1	0	0	0	11531	594	21	3	1767	3	PCDHA7	5	140215733	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09		140215733	40699527	11	11113											
TUBB2A	7280	genome.wustl.edu	37	chr6	3155012	3155012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcccggaccccgtgccGccccccagagagtgggtcag	12	19	1	1	rs555332069		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr6:3155012G>A	ENST00000333628.3	-	4	485	c.423C>T	c.(421-423)ggC>ggT	p.G141G	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	141					'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)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACCCCGTGCCGCCCCCCAGAG	0.627													G|||	1	0.000199681	0	0	5008	,	,		18415	0		0	False		,,,				2504	0.001																0								ENSG00000137267						11	11	11					6																	3155012		2156	4169	6325	TUBB2A	SO:0001819	synonymous_variant	0			-	HGNC	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.423C>T	6.37:g.3155012G>A		Somatic	0	32	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.45	Q6FGZ8|Q8IWR2	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G141	ENST00000333628.3	37	c.423	CCDS4484.1	6																																																																																			-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.627	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	protein_coding	OTTHUMT00000039662.1	G	NM_001069	-		3155012	-1	no_errors	ENST00000333628	ensembl	human	known	74_37	silent	SNP	0.001	A	A	3155012	G	A	3155012	2	1	153	1	0	0	0	0	0	0	0	1	16761	1074	38	1		1	TUBB2A	6	3155012	Silent	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		3155012	167960055	12	11114											
PGC	5225	genome.wustl.edu	37	chr6	41707609	41707609	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgctggggcacagtgagCagagaggtgcctgtgtccac	15	10	0	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr6:41707609C>A	ENST00000373025.3	-	7	905	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	281					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCACAGTGAGCAGAGAGGTGC	0.617																																																	0								ENSG00000096088						95	89	91					6																	41707609		2203	4300	6503	PGC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.843G>T	6.37:g.41707609C>A		Somatic	0	55	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	106	8.62	B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP							pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L281	ENST00000373025.3	37	c.843	CCDS4859.1	6																																																																																			-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	C		-		41707609	-1	no_errors	ENST00000373025	ensembl	human	known	74_37	silent	SNP	1.000	A	A	41707609	C	A	41707609	2	1	153	1	0	0	0	0	0	0	0	1	11787	697	25	3		3	PGC	6	41707609	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	38552597	41707609	129407458	13	11115											
TULP4	56995	genome.wustl.edu	37	chr6	158924151	158924151	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaccccttaaaactgtcctcTctgatgctgagtcagggcca	8	13	2	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr6:158924151T>A	ENST00000367097.3	+	13	4813	c.3456T>A	c.(3454-3456)tcT>tcA	p.S1152S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1152					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACTGTCCTCTCTGATGCTGA	0.582																																																	0								ENSG00000130338						87	81	83					6																	158924151		2203	4300	6503	TULP4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3456T>A	6.37:g.158924151T>A		Somatic	0	57	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP							pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1152	ENST00000367097.3	37	c.3456	CCDS34561.1	6																																																																																			-	NULL		0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	protein_coding	OTTHUMT00000042869.1	T	NM_020245	-		158924151	1	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	SNP	1.000	A	A	158924151	T	A	158924151	2	1	153	1	0	0	0	0	0	0	0	1	16783	1538	54	5		5	TULP4	6	158924151	Silent	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	117216542	158924151	12190916	14	11116											
LAMB1	3912	genome.wustl.edu	37	chr7	107626774	107626774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttttcccaaagtcggacGatcgttctatcagcatagca	9	10	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr7:107626774G>A	ENST00000222399.6	-	6	688	c.458C>T	c.(457-459)tCg>tTg	p.S153L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S153L|LAMB1_ENST00000393561.1_Missense_Mutation_p.S177L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	153	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.S153L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAAGTCGGACGATCGTTCTAT	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000091136						80	80	80					7																	107626774		2203	4300	6503	LAMB1	SO:0001583	missense	0			-	HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.458C>T	7.37:g.107626774G>A	ENSP00000222399:p.Ser153Leu	Somatic	0	44	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	63	16.00	Q14D91	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S153L	ENST00000222399.6	37	c.458	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.498723	0.96355	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.79940	-1.32;-1.32;-1.32	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.93390	0.7892	H	0.95043	3.615	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	0.94537	0.7741	9	0.87932	D	0	.	20.1916	0.98230	0.0:0.0:1.0:0.0	.	153;153;177	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	177;153;153	ENSP00000377191:S177L;ENSP00000222399:S153L;ENSP00000377190:S153L	ENSP00000222399:S153L	S	-	2	0	LAMB1	107414010	1.000000	0.71417	0.470000	0.27216	0.995000	0.86356	9.827000	0.99397	2.770000	0.95276	0.655000	0.94253	TCG	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.428	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	G	NM_002291	-		107626774	-1	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107626774	G	A	107626774	3	1	153	1	0	0	0	0	1	0	0	0	8612	1059	37	1	5018	1	LAMB1	7	107626774	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		107626774	51511889	15	11117											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174547	150174547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagactttacgaaataCgcgattatgctgttcacccg	10	10	1	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr7:150174547C>T	ENST00000307271.3	+	5	2251	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	559	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473																																																	0								ENSG00000171115						90	91	91					7																	150174547		2203	4300	6503	GIMAP8	SO:0001819	synonymous_variant	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1677C>T	7.37:g.150174547C>T		Somatic	0	22	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34		Silent	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.Y559	ENST00000307271.3	37	c.1677	CCDS34777.1	7																																																																																			-	pfam_AIG1,superfamily_P-loop_NTPase		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	C	NM_175571	-		150174547	1	no_errors	ENST00000307271	ensembl	human	known	74_37	silent	SNP	0.009	T	T	150174547	C	T	150174547	2	4	153	1	0	0	0	0	0	0	0	1	6387	547	19	1		1	GIMAP8	7	150174547	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	42547773	150174547	8964116	16	11118											
RPL7	6129	genome.wustl.edu	37	chr8	74203808	74203808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagatcgagcaatcaaagCgttatctgtcaaagcaattc	8	8	3	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr8:74203808C>T	ENST00000352983.2	-	5	802	c.517G>A	c.(517-519)Gct>Act	p.A173T	RPL7_ENST00000396465.1_Missense_Mutation_p.A133T|RPL7_ENST00000396467.1_Missense_Mutation_p.A133T|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.A133T			P18124	RL7_HUMAN	ribosomal protein L7	173				A -> S (in Ref. 2; AAA03081). {ECO:0000305}.	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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GCAATCAAAGCGTTATCTGTC	0.393																																																	0								ENSG00000147604						75	69	71					8																	74203808		2202	4299	6501	RPL7	SO:0001583	missense	0			-	HGNC	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.517G>A	8.37:g.74203808C>T	ENSP00000339795:p.Ala173Thr	Somatic	0	55	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP							pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.A173T	ENST00000352983.2	37	c.517	CCDS6212.1	8	.	.	.	.	.	.	.	.	.	.	C	0.687	-0.795932	0.02862	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465	.	.	.	5.47	-10.9	0.00192	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.490245	0.20181	U	0.097507	T	0.15176	0.0366	N	0.17922	0.545	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.25847	-1.0120	9	0.10111	T	0.7	.	5.9374	0.19173	0.5275:0.2864:0.0558:0.1303	.	173	P18124	RL7_HUMAN	T	133;173;133;133	.	ENSP00000339795:A173T	A	-	1	0	RPL7	74366362	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.609000	0.00415	-4.846000	0.00029	-0.895000	0.02911	GCT	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.393	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	protein_coding	OTTHUMT00000259287.1	C	NM_000971	-		74203808	-1	no_errors	ENST00000352983	ensembl	human	known	74_37	missense	SNP	0.000	T	T	74203808	C	T	74203808	3	4	153	1	0	0	0	0	1	0	0	0	13607	768	27	1	237	1	RPL7	8	74203808	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09		74203808	72160214	17	11119											
WWP1	11059	genome.wustl.edu	37	chr8	87464902	87464902	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtacttcgatgaaaaagaAttagaggttaggccctttta	9	6	0	3			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr8:87464902A>T	ENST00000517970.1	+	21	2695	c.2388A>T	c.(2386-2388)gaA>gaT	p.E796D	WWP1_ENST00000265428.4_Missense_Mutation_p.E796D|WWP1_ENST00000341922.2_Missense_Mutation_p.E666D|WWP1_ENST00000349423.2_Missense_Mutation_p.E578D	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	796	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATGAAAAAGAATTAGAGGTTA	0.388																																																	0								ENSG00000123124						111	111	111					8																	87464902		2203	4300	6503	WWP1	SO:0001583	missense	0			-	HGNC	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2388A>T	8.37:g.87464902A>T	ENSP00000427793:p.Glu796Asp	Somatic	0	64	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E796D	ENST00000517970.1	37	c.2388	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139708	0.77775	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.48	3.11	0.35812	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79222	-0.1892	10	0.87932	D	0	.	8.7799	0.34785	0.717:0.0:0.283:0.0	.	796	Q9H0M0	WWP1_HUMAN	D	796;796;666;578	ENSP00000427793:E796D;ENSP00000265428:E796D;ENSP00000340564:E666D;ENSP00000342665:E578D	ENSP00000265428:E796D	E	+	3	2	WWP1	87534018	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.610000	0.46325	0.469000	0.27268	0.528000	0.53228	GAA	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.388	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	protein_coding	OTTHUMT00000374755.1	A	NM_007013	-		87464902	1	no_errors	ENST00000265428	ensembl	human	known	74_37	missense	SNP	0.999	T	T	87464902	A	T	87464902	3	4	153	1	0	0	0	0	1	0	0	0	17422	98	4	5	2462	5	WWP1	8	87464902	Missense_Mutation	SNP	A	TCGA-IE-A4EJ-01A-11D-A24N-09	13261094	87464902	58899120	18	11120											
C9orf72	203228	genome.wustl.edu	37	chr9	27566948	27566948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaagaaaagttatttcTccatcactgagaagtacctg	8	8	2	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr9:27566948T>C	ENST00000380003.3	-	2	234	c.171A>G	c.(169-171)ggA>ggG	p.G57G	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.G57G	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	57					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAGTTATTTCTCCATCACTGA	0.398																																																	0								ENSG00000147894						113	105	108					9																	27566948		2203	4300	6503	C9orf72	SO:0001819	synonymous_variant	0			-	HGNC	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.171A>G	9.37:g.27566948T>C		Somatic	0	35	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP							NULL	p.G57	ENST00000380003.3	37	c.171	CCDS6522.1	9																																																																																			-	NULL		0.398	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	protein_coding	OTTHUMT00000051969.1	T	NM_018325	-		27566948	-1	no_errors	ENST00000380003	ensembl	human	known	74_37	silent	SNP	1.000	C	C	27566948	T	C	27566948	2	2	153	1	0	0	0	0	0	0	0	1	2497	1538	54	5		5	C9orf72	9	27566948	Silent	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09		27566948	113646483	19	11121											
LINGO2	158038	genome.wustl.edu	37	chr9	27949399	27949399	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctagctggactgtctgccctTcatctactagcagatgctgc	9	13	3	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr9:27949399T>A	ENST00000379992.2	-	6	1720	c.1271A>T	c.(1270-1272)gAa>gTa	p.E424V	LINGO2_ENST00000308675.3_Missense_Mutation_p.E424V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	424	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTCTGCCCTTCATCTACTAG	0.478																																																	0								ENSG00000174482						96	87	90					9																	27949399		2203	4300	6503	LINGO2	SO:0001583	missense	0			-	HGNC	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1271A>T	9.37:g.27949399T>A	ENSP00000369328:p.Glu424Val	Somatic	0	46	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	29.17	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E424V	ENST00000379992.2	37	c.1271	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366849	0.61513	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.67865	-0.29;-0.29	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.28649	0.875	0.80722	D	1	D	0.62365	0.991	D	0.63113	0.911	T	0.69591	-0.5104	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	424	Q7L985	LIGO2_HUMAN	V	424	ENSP00000369328:E424V;ENSP00000310126:E424V	.	E	-	2	0	LINGO2	27939399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAA	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.478	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	protein_coding	OTTHUMT00000051978.2	T	NM_152570	-		27949399	-1	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27949399	T	A	27949399	3	1	153	1	0	0	0	0	1	0	0	0	8817	1783	62	5	553	5	LINGO2	9	27949399	Missense_Mutation	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	382451	27949399	113264032	20	11122											
FBXW5	54461	genome.wustl.edu	37	chr9	139835424	139835424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagaaggtgcgaggccGtgggcgaggtgcctggagga	22	6	0	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr9:139835424G>A	ENST00000325285.3	-	9	1736	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	RP11-229P13.25_ENST00000569497.1_RNA|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	553					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTGCGAGGCCGTGGGCGAGGT	0.687																																																	0								ENSG00000159069						44	41	42					9																	139835424		2171	4281	6452	FBXW5	SO:0001583	missense	0			-	HGNC	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1657C>T	9.37:g.139835424G>A	ENSP00000313034:p.Arg553Trp	Somatic	0	42	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	74	15.91	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R553W	ENST00000325285.3	37	c.1657	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242078	0.22796	.	.	ENSG00000159069	ENST00000325285	T	0.75938	-0.98	3.78	1.82	0.25136	.	0.547535	0.16101	N	0.229571	T	0.69940	0.3167	M	0.63428	1.95	0.20307	N	0.999912	D;D	0.60575	0.988;0.975	P;B	0.46339	0.513;0.312	T	0.62272	-0.6889	10	0.66056	D	0.02	.	5.1189	0.14851	0.1005:0.0:0.5265:0.3729	.	418;553	Q59ET5;Q969U6	.;FBXW5_HUMAN	W	553	ENSP00000313034:R553W	ENSP00000313034:R553W	R	-	1	2	FBXW5	138955245	0.995000	0.38212	0.004000	0.12327	0.003000	0.03518	2.293000	0.43558	0.234000	0.21139	0.561000	0.74099	CGG	-	NULL		0.687	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	protein_coding	OTTHUMT00000055227.1	G	NM_018998	-		139835424	-1	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	SNP	0.110	A	A	139835424	G	A	139835424	3	1	153	1	0	0	0	0	1	0	0	0	5770	1144	40	1	47	1	FBXW5	9	139835424	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	111886025	139835424	1378007	21	11123											
SFMBT2	57713	genome.wustl.edu	37	chr10	7409806	7409806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgttcttattagccacttCcaatttcattcctggctgga	7	10	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr10:7409806C>T	ENST00000361972.4	-	4	331	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	SFMBT2_ENST00000379711.2_Missense_Mutation_p.E81K|SFMBT2_ENST00000397160.3_Missense_Mutation_p.E81K|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E81K|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E81K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	81					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTAGCCACTTCCAATTTCATT	0.483																																																	0								ENSG00000198879						73	72	72					10																	7409806		2203	4300	6503	SFMBT2	SO:0001583	missense	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.241G>A	10.37:g.7409806C>T	ENSP00000355109:p.Glu81Lys	Somatic	0	30	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	A7MD09|Q9HCF5	Missense_Mutation	SNP							pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.E81K	ENST00000361972.4	37	c.241	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703849	0.88924	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.92764	0.6226	10	0.72032	D	0.01	.	18.276	0.90084	0.0:1.0:0.0:0.0	.	81;81	Q5T981;Q5VUG0	.;SMBT2_HUMAN	K	81	ENSP00000355109:E81K;ENSP00000380353:E81K;ENSP00000369035:E81K;ENSP00000369033:E81K;ENSP00000380346:E81K	ENSP00000355109:E81K	E	-	1	0	SFMBT2	7449812	1.000000	0.71417	0.997000	0.53966	0.577000	0.36160	7.711000	0.84669	2.482000	0.83794	0.305000	0.20034	GAA	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	C	NM_001029880	-		7409806	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7409806	C	T	7409806	3	4	153	1	0	0	0	0	1	0	0	0	14166	864	30	2	2515	2	SFMBT2	10	7409806	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09		7409806	128124941	22	11124											
RAB18	22931	genome.wustl.edu	37	chr10	27821508	27821508	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacagggtgttatattaGgtaagtgtttactttaatgt	11	3	0	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr10:27821508G>C	ENST00000356940.6	+	4	361	c.259G>C	c.(259-261)Gtt>Ctt	p.V87L	RAB18_ENST00000375802.3_Intron|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Intron	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	87					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						TGTTATATTAGGTAAGTGTTT	0.299																																																	0								ENSG00000099246						92	99	96					10																	27821508		2203	4298	6501	RAB18	SO:0001630	splice_region_variant	0			-	HGNC	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"RAB, member RAS oncogene"	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.259+1G>C	10.37:g.27821508G>C		Somatic	0	39	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	50	27.54	B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V87L	ENST00000356940.6	37	c.259	CCDS7155.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.540234|4.540234	0.85917|0.85917	.|.	.|.	ENSG00000099246|ENSG00000099246	ENST00000423465|ENST00000356940;ENST00000540268	.|T	.|0.74209	.|-0.82	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Small GTP-binding protein domain (1);	.|.	.|.	.|.	.|.	D|D	0.85656|0.85656	0.5747|0.5747	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.967;0.999;0.835	.|P;D;P	.|0.67382	.|0.792;0.951;0.543	D|D	0.87375|0.87375	0.2353|0.2353	5|9	.|0.87932	.|D	.|0	.|.	17.9282|17.9282	0.88990|0.88990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|87;116;87	.|B7Z4P9;Q56UN9;Q9NP72	.|.;.;RAB18_HUMAN	T|L	199|87;65	.|ENSP00000349415:V87L	.|ENSP00000349415:V87L	S|V	+|+	2|1	0|0	RAB18|RAB18	27861514|27861514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.241000|7.241000	0.78201|0.78201	2.464000|2.464000	0.83262|0.83262	0.561000|0.561000	0.74099|0.74099	AGT|GTT	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.299	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB18	protein_coding	OTTHUMT00000047326.2	G	NM_021252	-	Missense_Mutation	27821508	1	no_errors	ENST00000356940	ensembl	human	known	74_37	missense	SNP	1.000	C	C	27821508	G	C	27821508	5	2	153	1	0	0	0	0	0	0	1	0	12911	1014	35	4	273	4	RAB18	10	27821508	Splice_Site	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	20411702	27821508	107713239	23	11125											
CYP2C9	1559	genome.wustl.edu	37	chr10	96731898	96731898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgaatttactattgaaaGcttggaaaacactgcagttg	8	6	1	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr10:96731898G>T	ENST00000260682.6	+	6	869	c.857G>T	c.(856-858)aGc>aTc	p.S286I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	286					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACTATTGAAAGCTTGGAAAAC	0.413																																					Ovarian(54;1266 1406 16072 35076)												0								ENSG00000138109						151	143	145					10																	96731898		2203	4300	6503	CYP2C9	SO:0001583	missense	0			-	HGNC	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.857G>T	10.37:g.96731898G>T	ENSP00000260682:p.Ser286Ile	Somatic	0	85	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	59	20.27	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S286I	ENST00000260682.6	37	c.857	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256579	0.39896	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.68903	-0.36	2.95	-1.22	0.09494	.	0.232666	0.31872	U	0.006932	T	0.61413	0.2345	N	0.21508	0.67	0.20196	N	0.999929	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.54234	-0.8324	10	0.87932	D	0	.	3.7307	0.08492	0.5698:0.1917:0.2384:0.0	.	286;286	Q5VX92;P11712	.;CP2C9_HUMAN	I	286	ENSP00000260682:S286I	ENSP00000260682:S286I	S	+	2	0	CYP2C9	96721888	0.006000	0.16342	0.001000	0.08648	0.024000	0.10985	0.721000	0.25911	-0.359000	0.08150	-0.475000	0.04921	AGC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B		0.413	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	protein_coding	OTTHUMT00000049501.1	G	NM_000771	-		96731898	1	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	SNP	0.766	T	T	96731898	G	T	96731898	3	4	153	1	0	0	0	0	1	0	0	0	4170	971	34	3	879	3	CYP2C9	10	96731898	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	68910390	96731898	38802849	24	11126											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159293	18159293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcagatttcattacaatcGcgtggctggtttttttatgt	9	7	2	1	rs572680080		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:18159293G>A	ENST00000396275.2	+	3	905	c.544G>A	c.(544-546)Gcg>Acg	p.A182T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATTACAATCGCGTGGCTGGT	0.512																																																	0								ENSG00000179826						168	153	158					11																	18159293		2200	4293	6493	MRGPRX3	SO:0001583	missense	0			-	HGNC		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.544G>A	11.37:g.18159293G>A	ENSP00000379571:p.Ala182Thr	Somatic	0	111	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	228	8.80	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A182T	ENST00000396275.2	37	c.544	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	G	5.922	0.354213	0.11182	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.36878	1.23;1.23	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	1.222750	0.05716	N	0.596906	T	0.26085	0.0636	N	0.25286	0.73	0.09310	N	1	P	0.43578	0.811	P	0.46208	0.507	T	0.07290	-1.0780	10	0.35671	T	0.21	.	2.8749	0.05628	0.4872:0.0:0.3054:0.2074	.	182	Q96LB0	MRGX3_HUMAN	T	182	ENSP00000379571:A182T;ENSP00000436242:A182T	ENSP00000379571:A182T	A	+	1	0	MRGPRX3	18115869	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.191000	0.03055	-1.646000	0.01513	-1.179000	0.01719	GCG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	G	NM_054031	-		18159293	1	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18159293	G	A	18159293	3	1	153	1	0	0	0	0	1	0	0	0	9770	1087	38	1	546	1	MRGPRX3	11	18159293	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		18159293	116847223	25	11127											
OR4A47	403253	genome.wustl.edu	37	chr11	48510419	48510419	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggagcagaaagtactTtttgttatgttcttgctctt	8	7	2	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:48510419T>A	ENST00000446524.1	+	1	151	c.75T>A	c.(73-75)ctT>ctA	p.L25L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGAAAGTACTTTTTGTTATGT	0.443																																																	0								ENSG00000237388						36	34	35					11																	48510419		2201	4288	6489	OR4A47	SO:0001819	synonymous_variant	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.75T>A	11.37:g.48510419T>A		Somatic	0	72	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	47	52.53		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L25	ENST00000446524.1	37	c.75	CCDS31490.1	11																																																																																			-	prints_GPCR_Rhodpsn		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	T	NM_001005512	-		48510419	1	no_errors	ENST00000446524	ensembl	human	known	74_37	silent	SNP	0.000	A	A	48510419	T	A	48510419	2	1	153	1	0	0	0	0	0	0	0	1	11044	1828	64	5		5	OR4A47	11	48510419	Silent	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	30351126	48510419	86496097	26	11128											
OR5L1	219437	genome.wustl.edu	37	chr11	55579035	55579035	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgcctcttcctgctgttCcttctcatctatggagtcac	7	14	5	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:55579035C>T	ENST00000333973.2	+	1	182	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCCTGCTGTTCCTTCTCATCT	0.512																																																	0								ENSG00000186117						261	236	244					11																	55579035		2200	4296	6496	OR5L1	SO:0001819	synonymous_variant	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.93C>T	11.37:g.55579035C>T		Somatic	0	92	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44	B2RNK6|Q6IFD0	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000333973.2	37	c.93	CCDS31509.1	11																																																																																			-	prints_GPCR_Rhodpsn		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	C	NM_001004738	-		55579035	1	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55579035	C	T	55579035	2	4	153	1	0	0	0	0	0	0	0	1	11172	854	30	2		2	OR5L1	11	55579035	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	7068616	55579035	79427481	27	11129											
OR4D11	219986	genome.wustl.edu	37	chr11	59271504	59271504	+	Silent	SNP	C	C	A													tctgcctcttggatggggggCtttgtccactccatcgtgca							TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:59271504C>A	ENST00000313253.1	+	1	456	c.456C>A	c.(454-456)ggC>ggA	p.G152G		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGATGGGGGGCTTTGTCCACT	0.547																																																	0								ENSG00000176200						208	178	188					11																	59271504		2201	4295	6496	OR4D11	SO:0001819	synonymous_variant	0			-	HGNC	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.456C>A	11.37:g.59271504C>A		Somatic	0	71	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	105	8.62		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G152	ENST00000313253.1	37	c.456	CCDS31563.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	protein_coding	OTTHUMT00000394236.1	C	NM_001004706	-		59271504	1	no_errors	ENST00000313253	ensembl	human	known	74_37	silent	SNP	0.993	A	A	59271504	C	A	59271504	2	1	153	1	0	0	0	0	0	0	0	1	11057	784	28	3		3	OR4D11	11	59271504	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	3692469	59271504	75735012	28	11130	179	2									
OR4D11	219986	genome.wustl.edu	37	chr11	59271507	59271507	+	Missense_Mutation	SNP	T	T	G													gcctcttggatggggggcttTgtccactccatcgtgcagat							TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:59271507T>G	ENST00000313253.1	+	1	459	c.459T>G	c.(457-459)ttT>ttG	p.F153L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGGGCTTTGTCCACTCCA	0.542																																																	0								ENSG00000176200						207	177	188					11																	59271507		2201	4295	6496	OR4D11	SO:0001583	missense	0			-	HGNC	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.459T>G	11.37:g.59271507T>G	ENSP00000320077:p.Phe153Leu	Somatic	0	71	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	104	9.57		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F153L	ENST00000313253.1	37	c.459	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	t	13.09	2.133792	0.37630	.	.	ENSG00000176200	ENST00000313253	T	0.00039	8.85	5.29	-0.292	0.12839	GPCR, rhodopsin-like superfamily (1);	0.126578	0.36034	N	0.002827	T	0.00144	0.0004	L	0.56199	1.76	0.24342	N	0.994951	B	0.17038	0.02	B	0.26310	0.068	T	0.33954	-0.9848	10	0.41790	T	0.15	-31.7199	5.6063	0.17381	0.1276:0.3417:0.0:0.5307	.	153	Q8NGI4	OR4DB_HUMAN	L	153	ENSP00000320077:F153L	ENSP00000320077:F153L	F	+	3	2	OR4D11	59028083	0.000000	0.05858	0.972000	0.41901	0.930000	0.56654	-0.655000	0.05348	0.022000	0.15160	0.455000	0.32223	TTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	protein_coding	OTTHUMT00000394236.1	T	NM_001004706	-		59271507	1	no_errors	ENST00000313253	ensembl	human	known	74_37	missense	SNP	0.026	G	G	59271507	T	G	59271507	3	3	153	1	0	0	0	0	1	0	0	0	11057	1809	63	5	461	5	OR4D11	11	59271507	Missense_Mutation	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	3	59271507	75735009	29	11131	179	2									
PLEKHG6	55200	genome.wustl.edu	37	chr12	6437043	6437043	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcaggccacggaagcTgactcgggcccagctgcaga	15	13	0	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:6437043T>G	ENST00000396988.3	+	15	2524	c.2294T>G	c.(2293-2295)cTg>cGg	p.L765R	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L765R|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.L295R|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L733R	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	765						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCACGGAAGCTGACTCGGGCC	0.662																																																	0								ENSG00000008323						8	11	10					12																	6437043		2192	4284	6476	PLEKHG6	SO:0001583	missense	0			-	HGNC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2294T>G	12.37:g.6437043T>G	ENSP00000380185:p.Leu765Arg	Somatic	0	21	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L765R	ENST00000396988.3	37	c.2294	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283680	0.59867	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.74315	-0.72;-0.72;-0.83	4.74	4.74	0.60224	.	0.000000	0.43919	D	0.000504	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.99691	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.997	T	0.80086	-0.1529	10	0.87932	D	0	-15.4297	10.6083	0.45406	0.0:0.0:0.0:1.0	.	733;765	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	R	765;765;733;295	ENSP00000011684:L765R;ENSP00000380185:L765R;ENSP00000393194:L733R	ENSP00000011684:L765R	L	+	2	0	PLEKHG6	6307304	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	4.540000	0.60664	2.004000	0.58718	0.454000	0.30748	CTG	-	NULL		0.662	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	protein_coding	OTTHUMT00000399031.1	T	NM_018173	-		6437043	1	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	SNP	1.000	G	G	6437043	T	G	6437043	3	3	153	1	0	0	0	0	1	0	0	0	12076	1580	55	5	2394	5	PLEKHG6	12	6437043	Missense_Mutation	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09		6437043	127414852	30	11132											
GPR19	2842	genome.wustl.edu	37	chr12	12815077	12815077	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgccatggagaccacaaaGtagttggtggtagactgagt	13	7	0	3			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:12815077G>C	ENST00000540510.1	-	2	498	c.306C>G	c.(304-306)taC>taG	p.Y102*	GPR19_ENST00000332427.2_Nonsense_Mutation_p.Y102*			P46093	GPR4_HUMAN	G protein-coupled receptor 19	54					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACCACAAAGTAGTTGGTGG	0.512																																																	0								ENSG00000183150						136	123	128					12																	12815077		2203	4300	6503	GPR19	SO:0001587	stop_gained	0			-	HGNC		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.306C>G	12.37:g.12815077G>C	ENSP00000441832:p.Tyr102*	Somatic	0	27	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.87	A8K3T3|B0M0K1|Q6NWM4	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Y102*	ENST00000540510.1	37	c.306	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963116	0.92791	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2243	13.0597	0.59000	0.0775:0.0:0.9225:0.0	.	.	.	.	X	102	.	ENSP00000333744:Y102X	Y	-	3	2	GPR19	12706344	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	2.622000	0.46427	2.744000	0.94065	0.655000	0.94253	TAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.512	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	protein_coding	OTTHUMT00000400662.1	G	NM_006143	-		12815077	-1	no_errors	ENST00000332427	ensembl	human	known	74_37	nonsense	SNP	1.000	C	C	12815077	G	C	12815077	4	2	153	1	0	0	0	0	0	1	0	0	6681	1024	36	4	945	4	GPR19	12	12815077	Nonsense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	6378034	12815077	121036818	31	11133											
TXNRD1	7296	genome.wustl.edu	37	chr12	104682750	104682750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacgctctcggaattggccGcggaaaccgatctgcccgtt	12	13	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:104682750G>T	ENST00000525566.1	+	4	370	c.346G>T	c.(346-348)Gcg>Tcg	p.A116S	TXNRD1_ENST00000526691.1_Missense_Mutation_p.A18S|TXNRD1_ENST00000388854.3_Missense_Mutation_p.A18S|TXNRD1_ENST00000542918.1_Missense_Mutation_p.A16S|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000429002.2_Missense_Mutation_p.A116S|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.A65S|TXNRD1_ENST00000354940.6_Intron	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	116	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GGAATTGGCCGCGGAAACCGA	0.557																																					Ovarian(139;555 1836 9186 9946 10884)												0								ENSG00000198431						116	121	120					12																	104682750		1895	4109	6004	TXNRD1	SO:0001583	missense	0			-	HGNC		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.346G>T	12.37:g.104682750G>T	ENSP00000434516:p.Ala116Ser	Somatic	0	38	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.87	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.A116S	ENST00000525566.1	37	c.346	CCDS53820.1	12	.	.	.	.	.	.	.	.	.	.	G	7.377	0.628067	0.14257	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000388854;ENST00000542918;ENST00000378070	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.18	1.99	0.26369	Glutaredoxin (2);Thioredoxin-like fold (2);	0.816727	0.11389	N	0.569071	T	0.07773	0.0195	N	0.00483	-1.445	0.38800	D	0.955174	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.001;0.001;0.007	T	0.20773	-1.0265	10	0.15952	T	0.53	-0.0154	4.7991	0.13287	0.0:0.1324:0.3078:0.5598	.	16;18;116	B7Z2S5;Q16881-4;Q16881	.;.;TRXR1_HUMAN	S	116;116;18;18;16;65	ENSP00000434516:A116S;ENSP00000412045:A116S;ENSP00000435929:A18S;ENSP00000373506:A18S;ENSP00000440978:A16S;ENSP00000367310:A65S	ENSP00000367310:A65S	A	+	1	0	TXNRD1	103206880	0.019000	0.18553	0.212000	0.23672	0.637000	0.38172	-0.171000	0.09883	0.345000	0.23873	0.449000	0.29647	GCG	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold		0.557	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	protein_coding	OTTHUMT00000389960.1	G	NM_003330	-		104682750	1	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	SNP	0.485	T	T	104682750	G	T	104682750	3	4	153	1	0	0	0	0	1	0	0	0	16814	1087	38	3	374	3	TXNRD1	12	104682750	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	91867673	104682750	29169145	32	11134											
RPH3A	22895	genome.wustl.edu	37	chr12	113327846	113327846	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaaacgtgctgggacCaccgggtcagcccgaggcat	14	11	1	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:113327846C>A	ENST00000389385.4	+	18	2078	c.1581C>A	c.(1579-1581)acC>acA	p.T527T	RPH3A_ENST00000447659.2_Silent_p.T478T|RPH3A_ENST00000415485.3_Silent_p.T527T|RPH3A_ENST00000548866.1_Silent_p.T478T|RPH3A_ENST00000543106.2_Silent_p.T527T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.T527T|RPH3A_ENST00000551052.1_Silent_p.T523T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	527					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GTGCTGGGACCACCGGGTCAG	0.493																																																	0								ENSG00000089169						185	189	188					12																	113327846		2203	4300	6503	RPH3A	SO:0001819	synonymous_variant	0			-	HGNC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1581C>A	12.37:g.113327846C>A		Somatic	0	40	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	47	34.72	B7Z3C3|Q96AE0	Silent	SNP							pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.T527	ENST00000389385.4	37	c.1581	CCDS44979.1	12																																																																																			-	NULL		0.493	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	protein_coding	OTTHUMT00000405561.1	C	NM_014954	-		113327846	1	no_errors	ENST00000389385	ensembl	human	known	74_37	silent	SNP	0.998	A	A	113327846	C	A	113327846	2	1	153	1	0	0	0	0	0	0	0	1	13559	581	21	3		3	RPH3A	12	113327846	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	8645096	113327846	20524049	33	11135											
KSR2	283455	genome.wustl.edu	37	chr12	118199247	118199247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatccacggggtgggctcCggggggcacacgggattgtt	19	10	0	0	rs373628463		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:118199247C>T	ENST00000339824.5	-	4	1282	c.555G>A	c.(553-555)ccG>ccA	p.P185P	KSR2_ENST00000425217.1_Silent_p.P156P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185	Pro-rich.				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)			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)					GGGTGGGCTCCGGGGGGCACA	0.632																																																	0								ENSG00000171435	C		0,3844		0,0,1922	48	50	49		468	-1	1	12		49	1,8233		0,1,4116	no	coding-synonymous	KSR2	NM_173598.4		0,1,6038	TT,TC,CC		0.0121,0.0,0.0083		156/922	118199247	1,12077	1922	4117	6039	KSR2	SO:0001819	synonymous_variant	0			-	HGNC	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.555G>A	12.37:g.118199247C>T		Somatic	0	70	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	84	36.84	A0PJT2|Q3B828|Q8N775	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P185	ENST00000339824.5	37	c.555		12																																																																																			-	NULL		0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	C	NM_173598	-		118199247	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	SNP	0.748	T	T	118199247	C	T	118199247	2	4	153	1	0	0	0	0	0	0	0	1	8584	639	23	1		1	KSR2	12	118199247	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	4871401	118199247	15652648	34	11136											
TYRO3	7301	genome.wustl.edu	37	chr15	41865505	41865505	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcaatgccccttgtaGgctggcagaggacatgacag	11	13	1	2	rs142510731	byFrequency	TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:41865505G>T	ENST00000263798.3	+	17	2209		c.e17-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						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)		GCCCCTTGTAGGCTGGCAGAG	0.562													G|||	56	0.0111821	0.0038	0.0159	5008	,	,		19330	0.006		0.0298	False		,,,				2504	0.0041																0								ENSG00000092445						212	210	211					15																	41865505		2203	4300	6503	TYRO3	SO:0001630	splice_region_variant	0			-	HGNC	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.1986-1G>T	15.37:g.41865505G>T		Somatic	0	45	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	O14953|Q86VR3	Splice_Site	SNP							-	e17-1	ENST00000263798.3	37	c.1986-1	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481650	0.63849	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6692	0.88212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39652797	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	9.869000	0.99810	2.607000	0.88179	0.650000	0.86243	.	-	-		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	protein_coding	OTTHUMT00000252693.2	G		rs142510731	Intron	41865505	1	no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	41865505	G	T	41865505	5	4	153	1	0	0	0	0	0	0	1	0	16821	1014	35	3	2051	3	TYRO3	15	41865505	Splice_Site	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		41865505	60665887	35	11137											
PLA2G4E	123745	genome.wustl.edu	37	chr15	42302340	42302341	+	Frame_Shift_Ins	INS	-	-	CCCCG													agaacactggcccccccaccINSccgggcctggaccacaccct					rs374407634|rs139522193		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:42302340_42302341insCCCCG	ENST00000413860.2	-	1	104_105	c.105_106insCGGGG	c.(103-108)cggggtfs	p.-35fs	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|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)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCCCCCCCACCCCGGGCCTGGA	0.599																																																	0								ENSG00000188089																																			PLA2G4E	SO:0001589	frameshift_variant	0				HGNC		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.105_106insCGGGG	15.37:g.42302340_42302341insCCCCG	ENSP00000413897:p.Arg35fs	Somatic					0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6ZSC0	Frame_Shift_Ins	INS							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.G35fs	ENST00000413860.2	37	c.106_105		15																																																																																			-	pfscan_C2_dom		0.599	PLA2G4E-201	KNOWN	basic	protein_coding	PLA2G4E	protein_coding		-	NM_198442			42302341	-1	no_errors	ENST00000413860	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	CCCCG	CCCCG	42302341	-	CCCCG	42302340	7	5	153	1	0	1	1	0	0	0	0	0	12007	623	22	0	2489	0	PLA2G4E	15	42302340	Frame_Shift_Ins	INS	-	TCGA-IE-A4EJ-01A-11D-A24N-09	436835	42302340	60229052	36	11138											
TTLL13	440307	genome.wustl.edu	37	chr15	90799414	90799414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcgtcagcgaaaagcccGcacatatatctgcaagccag	10	13	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:90799414G>A	ENST00000339615.5	+	6	880	c.590G>A	c.(589-591)cGc>cAc	p.R197H	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000438251.1_Missense_Mutation_p.R197H	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGAAAAGCCCGCACATATATC	0.557																																																	0								ENSG00000213471						97	93	94					15																	90799414		2199	4298	6497	TTLL13	SO:0001583	missense	0			-	HGNC	BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.590G>A	15.37:g.90799414G>A	ENSP00000345294:p.Arg197His	Somatic	0	37	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38		Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.R197H	ENST00000339615.5	37	c.590	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662705	0.67700	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.08102	3.13;3.13	5.18	3.34	0.38264	.	0.867696	0.09680	N	0.769877	T	0.26376	0.0644	M	0.69523	2.12	0.38004	D	0.934321	D	0.76494	0.999	D	0.65773	0.938	T	0.02098	-1.1214	10	0.72032	D	0.01	.	10.9538	0.47345	0.1505:0.0:0.8495:0.0	.	197	A6NNM8-2	.	H	197	ENSP00000413362:R197H;ENSP00000345294:R197H	ENSP00000345294:R197H	R	+	2	0	TTLL13	88600418	1.000000	0.71417	0.958000	0.39756	0.698000	0.40448	3.052000	0.49893	0.796000	0.33947	-0.215000	0.12644	CGC	-	pfam_TTL/TTLL_fam		0.557	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	protein_coding	OTTHUMT00000435854.1	G	NM_001029964	-		90799414	1	no_errors	ENST00000438251	ensembl	human	known	74_37	missense	SNP	0.975	A	A	90799414	G	A	90799414	3	1	153	1	0	0	0	0	1	0	0	0	16733	1087	38	1	608	1	TTLL13	15	90799414	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	48497074	90799414	11731978	37	11139											
TP53	7157	genome.wustl.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	8	12	2	0	rs587778720		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr17:7578211C>G	ENST00000269305.4	-	6	827	c.638G>C	c.(637-639)cGa>cCa	p.R213P	TP53_ENST00000420246.2_Missense_Mutation_p.R213P|TP53_ENST00000455263.2_Missense_Mutation_p.R213P|TP53_ENST00000445888.2_Missense_Mutation_p.R213P|TP53_ENST00000359597.4_Missense_Mutation_p.R213P|TP53_ENST00000413465.2_Missense_Mutation_p.R213P|TP53_ENST00000574684.1_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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	GRCh37	CM004906|CM022474	TP53	M		ENSG00000141510						132	118	122					17																	7578211		2203	4300	6503	TP53	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;	-	HGNC	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.638G>C	17.37:g.7578211C>G	ENSP00000269305:p.Arg213Pro	Somatic	0	59	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	23	61.02	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213P	ENST00000269305.4	37	c.638	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.540259	0.96474	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	D	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.54753	D	0.99998	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;0.999;0.999;1.0;0.999;0.998;1.0	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213P;ENSP00000352610:R213P;ENSP00000269305:R213P;ENSP00000398846:R213P;ENSP00000391127:R213P;ENSP00000391478:R213P;ENSP00000425104:R81P;ENSP00000423862:R120P	ENSP00000269305:R213P	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578211	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.935	G	G	7578211	C	G	7578211	3	3	153	1	0	0	0	0	1	0	0	0	16388	884	31	4	656	4	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09		7578211	73616999	38	11140											
LRRC30	339291	genome.wustl.edu	37	chr18	7231238	7231238	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccgtgggacgatgccctGctctcgggaagggacccgcg	15	14	2	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr18:7231238G>T	ENST00000383467.2	+	1	116	c.102G>T	c.(100-102)ctG>ctT	p.L34L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	34										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACGATGCCCTGCTCTCGGGAA	0.617																																																	0								ENSG00000206422						69	74	72					18																	7231238		1982	4153	6135	LRRC30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.102G>T	18.37:g.7231238G>T		Somatic	0	40	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L34	ENST00000383467.2	37	c.102	CCDS42409.1	18																																																																																			-	NULL		0.617	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	G	XM_292678	-		7231238	1	no_errors	ENST00000383467	ensembl	human	known	74_37	silent	SNP	0.693	T	T	7231238	G	T	7231238	2	4	153	1	0	0	0	0	0	0	0	1	8987	1306	46	3		3	LRRC30	18	7231238	Silent	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		7231238	70846010	39	11141											
NOTCH3	4854	genome.wustl.edu	37	chr19	15276877	15276877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcccccccacagaaggaAgccagcattagcggggtgaa	13	12	0	3			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:15276877A>G	ENST00000263388.2	-	30	5463	c.5388T>C	c.(5386-5388)gcT>gcC	p.A1796A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1796					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGAAGGAAGCCAGCATTA	0.557																																																	0								ENSG00000074181						54	54	54					19																	15276877		2203	4300	6503	NOTCH3	SO:0001819	synonymous_variant	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5388T>C	19.37:g.15276877A>G		Somatic	0	36	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	69	12.66	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1796	ENST00000263388.2	37	c.5388	CCDS12326.1	19																																																																																			-	pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.557	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	A	NM_000435	-		15276877	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	SNP	0.976	G	G	15276877	A	G	15276877	2	3	153	1	0	0	0	0	0	0	0	1	10552	59	3	5		5	NOTCH3	19	15276877	Silent	SNP	A	TCGA-IE-A4EJ-01A-11D-A24N-09		15276877	43852106	40	11142											
ZNF99	7652	genome.wustl.edu	37	chr19	22941446	22941446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatttgcagggtttcTctgcagtatgaattacctta	7	9	2	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:22941446T>C	ENST00000596209.1	-	4	1355	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	ZNF99_ENST00000397104.3_Missense_Mutation_p.E331G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	422					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)				GCAGGGTTTCTCTGCAGTATG	0.363																																																	0								ENSG00000213973						45	47	46					19																	22941446		2009	4204	6213	ZNF99	SO:0001583	missense	0			-	HGNC	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.1265A>G	19.37:g.22941446T>C	ENSP00000472969:p.Glu422Gly	Somatic	0	52	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	M0R335	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E331G	ENST00000596209.1	37	c.992	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	12.91	2.080674	0.36758	.	.	ENSG00000213973	ENST00000397104	T	0.20332	2.08	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22627	0.0546	L	0.53780	1.695	0.28366	N	0.920212	P	0.40909	0.732	B	0.43658	0.426	T	0.15435	-1.0437	9	0.87932	D	0	.	5.9848	0.19428	0.0:0.0:0.0:1.0	.	331	A8MXY4	ZNF99_HUMAN	G	331	ENSP00000380293:E331G	ENSP00000380293:E331G	E	-	2	0	ZNF99	22733286	0.385000	0.25172	0.027000	0.17364	0.028000	0.11728	3.588000	0.53964	0.566000	0.29273	0.325000	0.21440	GAG	-	pfscan_Znf_C2H2		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	protein_coding	OTTHUMT00000464591.1	T	XM_065124	-		22941446	-1	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	SNP	0.880	C	C	22941446	T	C	22941446	3	2	153	1	0	0	0	0	1	0	0	0	18211	1551	54	5	2132	5	ZNF99	19	22941446	Missense_Mutation	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	7664569	22941446	36187537	41	11143											
ATP1A3	478	genome.wustl.edu	37	chr19	42490069	42490069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggcactcggtctccacCcttgatctccaccaggtccc	8	18	2	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:42490069C>A	ENST00000302102.5	-	6	703	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	ATP1A3_ENST00000543770.1_Missense_Mutation_p.G196C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.G198C|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G155C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	185					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGGTCTCCACCCTTGATCTCC	0.642																																																	0								ENSG00000105409						167	146	153					19																	42490069		2203	4300	6503	ATP1A3	SO:0001583	missense	0			-	HGNC		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.553G>T	19.37:g.42490069C>A	ENSP00000302397:p.Gly185Cys	Somatic	0	65	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	53	38.37	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G185C	ENST00000302102.5	37	c.553	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273289	0.59649	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	3.75	3.75	0.43078	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.73372	2.23	0.80722	D	1	P;D;D;D	0.89917	0.585;1.0;1.0;1.0	P;D;D;D	0.97110	0.485;0.995;1.0;0.997	D	0.94334	0.7564	10	0.56958	D	0.05	.	13.4267	0.61030	0.0:1.0:0.0:0.0	.	198;196;185;185	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	185;185;198;155;196	ENSP00000302397:G185C;ENSP00000411503:G185C;ENSP00000444688:G198C;ENSP00000437577:G196C	ENSP00000302397:G185C	G	-	1	0	ATP1A3	47181909	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.965000	0.70387	1.833000	0.53350	0.313000	0.20887	GGT	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.642	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	protein_coding	OTTHUMT00000268107.1	C	NM_152296	-		42490069	-1	no_errors	ENST00000302102	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42490069	C	A	42490069	3	1	153	1	0	0	0	0	1	0	0	0	1130	623	22	3	2560	3	ATP1A3	19	42490069	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	19548623	42490069	16638914	42	11144											
ZBTB46	140685	genome.wustl.edu	37	chr20	62421656	62421656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgagagcttccgtgctgCtgctggacgaggcgccgatc	15	11	0	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr20:62421656C>T	ENST00000245663.4	-	2	605	c.455G>A	c.(454-456)aGc>aAc	p.S152N	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Missense_Mutation_p.S152N|ZBTB46_ENST00000395104.1_Missense_Mutation_p.S152N	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	152					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTCCGTGCTGCTGCTGGACGA	0.632																																																	0								ENSG00000130584						33	30	31					20																	62421656		2203	4300	6503	ZBTB46	SO:0001583	missense	0			-	HGNC	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.455G>A	20.37:g.62421656C>T	ENSP00000245663:p.Ser152Asn	Somatic	0	40	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	87	29.84	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S152N	ENST00000245663.4	37	c.455	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013352	0.19277	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.10573	2.86;2.86;2.86	5.64	4.69	0.59074	.	0.494435	0.24833	N	0.035232	T	0.08358	0.0208	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29518	-1.0009	10	0.21014	T	0.42	.	12.7756	0.57445	0.0:0.9201:0.0:0.0799	.	152	Q86UZ6	ZBT46_HUMAN	N	152	ENSP00000245663:S152N;ENSP00000303102:S152N;ENSP00000378536:S152N	ENSP00000245663:S152N	S	-	2	0	ZBTB46	61892100	0.208000	0.23494	0.003000	0.11579	0.006000	0.05464	2.161000	0.42358	1.370000	0.46153	0.650000	0.86243	AGC	-	NULL		0.632	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	protein_coding	OTTHUMT00000080232.2	C	NM_025224	-		62421656	-1	no_errors	ENST00000245663	ensembl	human	known	74_37	missense	SNP	0.265	T	T	62421656	C	T	62421656	3	4	153	1	0	0	0	0	1	0	0	0	17554	797	28	2	1330	2	ZBTB46	20	62421656	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09		62421656	603864	43	11145											
SCARF2	91179	genome.wustl.edu	37	chr22	20780112	20780112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcgcggcgttgggtcGcgggtccgggggctgccgtg	25	10	0	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr22:20780112G>A	ENST00000266214.5	-	11	2270	c.2166C>T	c.(2164-2166)cgC>cgT	p.R722R	SCARF2_ENST00000405555.3_Silent_p.R717R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	722	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGTTGGGTCGCGGGTCCGGG	0.786																																																	0								ENSG00000244486						7	7	7					22																	20780112		1916	3744	5660	SCARF2	SO:0001819	synonymous_variant	0			-	HGNC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2166C>T	22.37:g.20780112G>A		Somatic	0	13	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP							pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.R717	ENST00000266214.5	37	c.2151	CCDS13779.1	22																																																																																			-	NULL		0.786	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	protein_coding	OTTHUMT00000320047.1	G		-		20780112	-1	no_errors	ENST00000405555	ensembl	human	known	74_37	silent	SNP	0.100	A	A	20780112	G	A	20780112	2	1	153	1	0	0	0	0	0	0	0	1	13892	1074	38	1		1	SCARF2	22	20780112	Silent	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		20780112	30524454	44	11146											
MYH9	4627	genome.wustl.edu	37	chr22	36678786	36678786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggagccatccccggcgccTttccgggccattcggcgggg	15	16	0	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr22:36678786T>C	ENST00000216181.5	-	41	6041	c.5811A>G	c.(5809-5811)aaA>aaG	p.K1937K	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1937					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCCCGGCGCCTTTCCGGGCCA	0.677			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								ENSG00000100345																																			MYH9	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5811A>G	22.37:g.36678786T>C		Somatic	0	64	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	23	71.95	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1937	ENST00000216181.5	37	c.5811	CCDS13927.1	22																																																																																			-	NULL		0.677	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	T	NM_002473	rs139624264		36678786	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	SNP	0.997	C	C	36678786	T	C	36678786	2	2	153	1	0	0	0	0	0	0	0	1	10044	1606	56	5		5	MYH9	22	36678786	Silent	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	15898674	36678786	14625780	45	11147											
CNKSR2	22866	genome.wustl.edu	37	chrX	21627458	21627458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatctccccagagcacagGcggcagtctaccctgccaac	9	18	2	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:21627458G>T	ENST00000379510.3	+	20	2451	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	CNKSR2_ENST00000279451.4_Missense_Mutation_p.R805S|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R775S|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R756S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	805					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGAGCACAGGCGGCAGTCTA	0.537																																																	0								ENSG00000149970						64	60	62					X																	21627458		2203	4300	6503	CNKSR2	SO:0001583	missense	0			-	HGNC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2415G>T	X.37:g.21627458G>T	ENSP00000368824:p.Arg805Ser	Somatic	0	36	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	100	13.68	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP							pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R805S	ENST00000379510.3	37	c.2415	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462846	0.26248	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19938	2.37;2.11;2.14;2.4	5.51	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.64997	1.995	0.47374	D	0.999404	D;P;D;D	0.69078	0.997;0.937;0.985;0.984	P;B;P;P	0.60117	0.869;0.328;0.654;0.711	T	0.04551	-1.0943	10	0.54805	T	0.06	-21.7879	12.089	0.53715	0.2504:0.0:0.7496:0.0	.	775;756;397;805	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	S	775;756;805;805	ENSP00000397906:R775S;ENSP00000444633:R756S;ENSP00000279451:R805S;ENSP00000368824:R805S	ENSP00000279451:R805S	R	+	3	2	CNKSR2	21537379	1.000000	0.71417	0.999000	0.59377	0.259000	0.26198	1.089000	0.30890	0.160000	0.19432	-2.200000	0.00306	AGG	-	NULL		0.537	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	protein_coding	OTTHUMT00000056019.1	G	NM_014927	-		21627458	1	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	SNP	0.998	T	T	21627458	G	T	21627458	3	4	153	1	0	0	0	0	1	0	0	0	3609	1194	42	3	2493	3	CNKSR2	23	21627458	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09		21627458	133643102	46	11148											
FAM47B	170062	genome.wustl.edu	37	chrX	34961413	34961413	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaaacagctggatccCgagaggaagctggaggacgc	16	9	0	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:34961413C>A	ENST00000329357.5	+	1	501	c.465C>A	c.(463-465)ccC>ccA	p.P155P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	155										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						AGCTGGATCCCGAGAGGAAGC	0.562																																																	0								ENSG00000189132						56	50	52					X																	34961413		2202	4300	6502	FAM47B	SO:0001819	synonymous_variant	0			-	HGNC	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.465C>A	X.37:g.34961413C>A		Somatic	0	91	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	136	9.93	Q5JQN5|Q6PIG3	Silent	SNP							NULL	p.P155	ENST00000329357.5	37	c.465	CCDS14236.1	X																																																																																			-	NULL		0.562	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	C	NM_152631	-		34961413	1	no_errors	ENST00000329357	ensembl	human	known	74_37	silent	SNP	0.113	A	A	34961413	C	A	34961413	2	1	153	1	0	0	0	0	0	0	0	1	5572	639	23	3		3	FAM47B	23	34961413	Silent	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	13333955	34961413	120309147	47	11149											
RBM3	5935	genome.wustl.edu	37	chrX	48434970	48434970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatggatatggatatggaCgttccagagactataatggc	13	5	0	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:48434970C>T	ENST00000376759.3	+	5	454	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	RBM3_ENST00000376755.1_Missense_Mutation_p.R131C|RBM3_ENST00000430348.2_Silent_p.D103D|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000354480.2_Silent_p.D103D|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	131	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TGGATATGGACGTTCCAGAGA	0.498																																																	0								ENSG00000102317						81	71	74					X																	48434970		2197	4287	6484	RBM3	SO:0001583	missense	0			-	HGNC	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.391C>T	X.37:g.48434970C>T	ENSP00000365950:p.Arg131Cys	Somatic	0	25	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00		Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R131C	ENST00000376759.3	37	c.391	CCDS14301.1	X	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649844	0.47362	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.20881	2.04;2.04	5.18	0.535	0.17133	.	0.380247	0.18768	U	0.131687	T	0.07954	0.0199	N	0.08118	0	0.58432	D	0.99999	B	0.09022	0.002	B	0.01281	0.0	T	0.21518	-1.0243	10	0.51188	T	0.08	-0.3646	1.1465	0.01776	0.4289:0.2301:0.2111:0.1299	.	131	P98179	RBM3_HUMAN	C	131	ENSP00000365950:R131C;ENSP00000365946:R131C	ENSP00000365946:R131C	R	+	1	0	RBM3	48319914	0.848000	0.29623	0.975000	0.42487	0.983000	0.72400	1.459000	0.35234	0.332000	0.23536	0.600000	0.82982	CGT	-	NULL		0.498	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	protein_coding	OTTHUMT00000060755.1	C	NM_006743	-		48434970	1	no_errors	ENST00000376755	ensembl	human	known	74_37	missense	SNP	0.600	T	T	48434970	C	T	48434970	3	4	153	1	0	0	0	0	1	0	0	0	13137	536	19	1	405	1	RBM3	23	48434970	Missense_Mutation	SNP	C	TCGA-IE-A4EJ-01A-11D-A24N-09	13473557	48434970	106835590	48	11150											
PIM2	11040	genome.wustl.edu	37	chrX	48772492	48772492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggccttcacccagtgGgcccttctctgtgatatagt	11	12	2	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:48772492G>T	ENST00000376509.4	-	4	589	c.400C>A	c.(400-402)Cca>Aca	p.P134T	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCACCCAGTGGGCCCTTCTCT	0.577																																																	0								ENSG00000102096						49	43	45					X																	48772492		2203	4300	6503	PIM2	SO:0001583	missense	0			-	HGNC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.400C>A	X.37:g.48772492G>T	ENSP00000365692:p.Pro134Thr	Somatic	0	48	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	63	26.74	A8K4G6|Q99739	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P134T	ENST00000376509.4	37	c.400	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618177	0.28801	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.64991	-0.13;-0.13	5.88	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070670	0.56097	D	0.000032	T	0.42698	0.1214	N	0.21617	0.685	0.41263	D	0.986796	B	0.20887	0.049	B	0.21546	0.035	T	0.31223	-0.9951	10	0.12103	T	0.63	.	8.2801	0.31896	0.0:0.2763:0.5682:0.1556	.	134	Q9P1W9	PIM2_HUMAN	T	134;22	ENSP00000365692:P134T;ENSP00000410960:P22T	ENSP00000365692:P134T	P	-	1	0	PIM2	48657436	0.986000	0.35501	0.465000	0.27155	0.972000	0.66771	2.442000	0.44873	2.474000	0.83562	0.600000	0.82982	CCA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.577	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	protein_coding	OTTHUMT00000060805.1	G		-		48772492	-1	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	SNP	0.943	T	T	48772492	G	T	48772492	3	4	153	1	0	0	0	0	1	0	0	0	11930	1232	43	3	547	3	PIM2	23	48772492	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	337522	48772492	106498068	49	11151											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic					0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT	TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	153	1	0	1	1	0	0	0	0	0	14304	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-IE-A4EJ-01A-11D-A24N-09	1578266	50350758	104919802	50	11152											
ATRX	546	genome.wustl.edu	37	chrX	76855962	76855962	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggatgagtccatattctacTtaacatctgaaaatcttgga	7	7	3	2			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:76855962T>A	ENST00000373344.5	-	23	5852	c.5638A>T	c.(5638-5640)Agt>Tgt	p.S1880C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1842C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1880					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CATATTCTACTTAACATCTGA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						214	186	195					X																	76855962		2203	4296	6499	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5638A>T	X.37:g.76855962T>A	ENSP00000362441:p.Ser1880Cys	Somatic	0	91	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	87	17.92	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1880C	ENST00000373344.5	37	c.5638	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382028	0.61845	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93307	-3.2;-3.2	5.2	5.2	0.72013	SNF2-related (1);	0.000000	0.85682	U	0.000000	D	0.94132	0.8118	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93720	0.7032	10	0.39692	T	0.17	-9.1943	14.1249	0.65213	0.0:0.0:0.0:1.0	.	1842;1880	P46100-4;P46100	.;ATRX_HUMAN	C	1880;1842	ENSP00000362441:S1880C;ENSP00000378967:S1842C	ENSP00000362441:S1880C	S	-	1	0	ATRX	76742618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.713000	0.51359	0.437000	0.28790	AGT	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489	-		76855962	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76855962	T	A	76855962	3	1	153	1	0	0	0	0	1	0	0	0	1208	1609	56	5	1892	5	ATRX	23	76855962	Missense_Mutation	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	26505204	76855962	78414598	51	11153											
ATRX	546	genome.wustl.edu	37	chrX	76909659	76909659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctgtttatagctccgctGattttcttccaactctgctt	5	11	3	1			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:76909659G>A	ENST00000373344.5	-	14	4460	c.4246C>T	c.(4246-4248)Cag>Tag	p.Q1416*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1378*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAGCTCCGCTGATTTTCTTCC	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						193	162	172					X																	76909659		2203	4295	6498	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4246C>T	X.37:g.76909659G>A	ENSP00000362441:p.Gln1416*	Somatic	0	19	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1416*	ENST00000373344.5	37	c.4246	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	g	46	12.366761	0.99661	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.41	5.41	0.78517	.	0.076051	0.53938	U	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.7207	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	1416;1378;1343	.	ENSP00000362441:Q1416X	Q	-	1	0	ATRX	76796315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.328000	0.79160	2.396000	0.81511	0.502000	0.49764	CAG	-	NULL		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76909659	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	76909659	G	A	76909659	4	1	153	1	0	0	0	0	0	1	0	0	1208	1299	45	2	3320	2	ATRX	23	76909659	Nonsense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	53697	76909659	78360901	52	11154											
CYLC1	1538	genome.wustl.edu	37	chrX	83128692	83128692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacaagaaaaaggatGtaaagaaggacacagagtct	11	4	1	5			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:83128692G>A	ENST00000329312.4	+	4	1013	c.976G>A	c.(976-978)Gta>Ata	p.V326I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	326					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)			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						GAAAAAGGATGTAAAGAAGGA	0.333																																																	0								ENSG00000183035						47	42	44					X																	83128692		2195	4296	6491	CYLC1	SO:0001583	missense	0			-	HGNC	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.976G>A	X.37:g.83128692G>A	ENSP00000331556:p.Val326Ile	Somatic	0	20	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP							NULL	p.V326I	ENST00000329312.4	37	c.976	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	g	10.23	1.292472	0.23564	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.22539	1.95	3.94	-0.282	0.12878	.	.	.	.	.	T	0.16342	0.0393	L	0.36672	1.1	0.09310	N	1	B;B	0.27732	0.187;0.187	B;B	0.26770	0.073;0.073	T	0.19353	-1.0308	9	0.45353	T	0.12	3.998	10.4977	0.44788	0.0:0.0:0.3235:0.6765	.	326;326	P35663;F5H4V5	CYLC1_HUMAN;.	I	326	ENSP00000331556:V326I	ENSP00000331556:V326I	V	+	1	0	CYLC1	83015348	0.009000	0.17119	0.112000	0.21494	0.968000	0.65278	-0.066000	0.11598	-0.319000	0.08652	0.436000	0.28706	GTA	-	NULL		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	protein_coding	OTTHUMT00000057371.1	G	NM_021118	-		83128692	1	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	SNP	0.196	A	A	83128692	G	A	83128692	3	1	153	1	0	0	0	0	1	0	0	0	4143	1377	48	2	990	2	CYLC1	23	83128692	Missense_Mutation	SNP	G	TCGA-IE-A4EJ-01A-11D-A24N-09	6219033	83128692	72141868	53	11155											
L1CAM	3897	genome.wustl.edu	37	chrX	153135044	153135044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacattgggtcaccaTtgtgtcactgggctgcacgt	12	12	3	0			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:153135044T>C	ENST00000370060.1	-	11	1387	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	L1CAM_ENST00000538883.1_Missense_Mutation_p.M402V|L1CAM_ENST00000543994.1_Missense_Mutation_p.M402V|L1CAM_ENST00000370057.3_Missense_Mutation_p.M400V|L1CAM_ENST00000361981.3_Missense_Mutation_p.M395V|L1CAM_ENST00000361699.4_Missense_Mutation_p.M400V|L1CAM_ENST00000370055.1_Missense_Mutation_p.M395V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	400	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGTCACCATTGTGTCACTG	0.597																																																	0			GRCh37	CD011871	L1CAM	D		ENSG00000198910						104	82	90					X																	153135044		2203	4299	6502	L1CAM	SO:0001583	missense	0			-	HGNC	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1198A>G	X.37:g.153135044T>C	ENSP00000359077:p.Met400Val	Somatic	0	65	0		0.534439351318645				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	82	24.55	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.M402V	ENST00000370060.1	37	c.1204	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701181	0.48307	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.6	5.6	0.85130	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.242826	0.37906	N	0.001897	T	0.45357	0.1338	N	0.19112	0.55	0.31089	N	0.711078	B;B;B	0.34015	0.096;0.435;0.117	B;B;B	0.28305	0.011;0.088;0.018	T	0.55623	-0.8112	10	0.72032	D	0.01	.	4.5092	0.11903	0.1749:0.0911:0.0:0.7339	.	395;400;400	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	400;402;400;402;395;395;400	ENSP00000359077:M400V;ENSP00000438430:M402V;ENSP00000359074:M400V;ENSP00000439645:M402V;ENSP00000354712:M395V;ENSP00000359072:M395V;ENSP00000355380:M400V	ENSP00000355380:M400V	M	-	1	0	L1CAM	152788238	0.616000	0.27035	0.921000	0.36526	0.945000	0.59286	1.403000	0.34612	1.881000	0.54492	0.393000	0.25936	ATG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	protein_coding	OTTHUMT00000061094.2	T	NM_024003	-		153135044	-1	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	SNP	0.947	C	C	153135044	T	C	153135044	3	2	153	1	0	0	0	0	1	0	0	0	8590	1493	52	5	2651	5	L1CAM	23	153135044	Missense_Mutation	SNP	T	TCGA-IE-A4EJ-01A-11D-A24N-09	70006352	153135044	2135516	54	11156											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74649253	74649253	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattttccatagactttaaaTgaaggccattgaacttcaca	5	8	1	3			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr1:74649253T>A	ENST00000395089.1	-	1	115	c.116A>T	c.(115-117)cAt>cTt	p.H39L	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.H39L|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.H39L|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.H39L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	39										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						agactttaaatgaaggccatt	0.328																																																	0								ENSG00000162620						57	59	58					1																	74649253		2201	4296	6497	LRRIQ3	SO:0001583	missense	0			-	HGNC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.116A>T	1.37:g.74649253T>A	ENSP00000378524:p.His39Leu	Somatic	0	44	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	39	0	0	32	54.29	38	pfscan_IQ_motif_EF-hand-BS	p.H39L	ENST00000395089.1	37	c.116	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004484	0.35320	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.31769	1.98;1.98;1.48;1.98	5.06	3.87	0.44632	.	0.261790	0.27311	N	0.019954	T	0.07818	0.0196	N	0.19112	0.55	0.29138	N	0.879195	B	0.12630	0.006	B	0.08055	0.003	T	0.18999	-1.0319	10	0.59425	D	0.04	.	8.9473	0.35767	0.3186:0.0:0.0:0.6814	.	39	A6PVS8	LRIQ3_HUMAN	L	39	ENSP00000378524:H39L;ENSP00000346414:H39L;ENSP00000359946:H39L;ENSP00000359948:H39L	ENSP00000346414:H39L	H	-	2	0	LRRIQ3	74421841	0.997000	0.39634	0.994000	0.49952	0.913000	0.54294	1.259000	0.32956	0.787000	0.33731	0.533000	0.62120	CAT	-	NULL		0.328	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	protein_coding	OTTHUMT00000316539.1	T	NM_145258	-		74649253	-1	no_errors	ENST00000354431	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74649253	T	A	74649253	3	1	154	1	0	0	0	0	1	0	0	0	9032	1464	51	5	1786	5	LRRIQ3	1	74649253	Missense_Mutation	SNP	T	TCGA-IE-A4EK-01A-11D-A24N-09		74649253	174601368	1	11157											
POLR3C	10623	genome.wustl.edu	37	chr1	145598254	145598254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggatactgatgacataCattcctccaccactgtcgcc	7	13	0	2			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr1:145598254C>T	ENST00000334163.3	-	9	1159	c.999G>A	c.(997-999)atG>atA	p.M333I	POLR3C_ENST00000471254.1_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.M333I	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	333					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)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGATGACATACATTCCTCCAC	0.393																																																	0								ENSG00000186141						86	81	82					1																	145598254		2203	4300	6503	POLR3C	SO:0001583	missense	0			-	HGNC	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.999G>A	1.37:g.145598254C>T	ENSP00000334564:p.Met333Ile	Somatic	0	46	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	O15317|Q9Y3R6	Missense_Mutation	SNP	33	0	0	19	52.50	21	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.M333I	ENST00000334163.3	37	c.999	CCDS921.1	1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251053	0.59212	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.40756	1.02;1.02	6.11	6.11	0.99139	RNA polymerase III Rpc82, C -terminal (1);	0.106440	0.85682	D	0.000000	T	0.25195	0.0612	L	0.45581	1.43	0.58432	D	0.999999	B;B;B	0.26602	0.154;0.101;0.057	B;B;B	0.23574	0.047;0.028;0.039	T	0.02352	-1.1172	10	0.31617	T	0.26	-19.6738	16.2343	0.82363	0.0:1.0:0.0:0.0	.	333;333;333	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	I	333	ENSP00000334564:M333I;ENSP00000358300:M333I	ENSP00000334564:M333I	M	-	3	0	POLR3C	144309611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.627000	0.61276	2.906000	0.99361	0.655000	0.94253	ATG	-	pfam_RNA_pol_III_Rpc82_C		0.393	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	protein_coding	OTTHUMT00000038542.1	C	NM_006468	-		145598254	-1	no_errors	ENST00000334163	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145598254	C	T	145598254	3	4	154	1	0	0	0	0	1	0	0	0	12232	478	17	2	633	2	POLR3C	1	145598254	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09	70949001	145598254	103652367	2	11158											
SMG5	23381	genome.wustl.edu	37	chr1	156237384	156237423	+	Frame_Shift_Del	DEL	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	-													ctcactggccaggctgaggtTgggtgaggagggcaggtaga					rs7530192|rs201878597|rs372597884	byFrequency	TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr1:156237384_156237423delTGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	ENST00000361813.5	-	10	1099_1138	c.955_994delGACTTCAACCTCTGCCTCTTCTACCTGCCCTCCTCACCCA	c.(955-996)gacttcaacctctgcctcttctacctgccctcctcacccaacfs	p.DFNLCLFYLPSSPN319fs	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	319					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGGCTGAGGTTGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTCCTCCAGGACT	0.562																																																	0								ENSG00000198952																																			SMG5	SO:0001589	frameshift_variant	0				HGNC	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.955_994delGACTTCAACCTCTGCCTCTTCTACCTGCCCTCCTCACCCA	1.37:g.156237384_156237423delTGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	ENSP00000355261:p.Asp319fs	Somatic					0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Frame_Shift_Del	DEL	30	0	0	28	9.68	3	pfam_EST1,smart_PIN_dom	p.D319fs	ENST00000361813.5	37	c.994_955	CCDS1137.1	1																																																																																			-	NULL		0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	protein_coding	OTTHUMT00000046308.1	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	NM_015327			156237423	-1	no_errors	ENST00000361813	ensembl	human	known	74_37	frame_shift_del	DEL	0.982:1.000:1.000:0.998:0.963:0.996:0.995:0.914:0.996:0.996:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	156237423	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	-	156237384	7	5	154	1	0	1	0	1	0	0	0	0	14804	1812	63	0	2108	0	SMG5	1	156237384	Frame_Shift_Del	DEL	TGGGTGAGGAGGGCAGGTAGAAGAGGCAGAGGTTGAAGTC	TCGA-IE-A4EK-01A-11D-A24N-09	10639130	156237384	93013237	3	11159											
CRB1	23418	genome.wustl.edu	37	chr1	197390617	197390617	+	Frame_Shift_Del	DEL	G	G	-													caggtcaataatcagtcaaaGgtgcttctgttcatttccca							TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr1:197390617delG	ENST00000367400.3	+	6	1794	c.1659delG	c.(1657-1659)aagfs	p.K553fs	CRB1_ENST00000544212.1_Frame_Shift_Del_p.K34fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.K441fs|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Frame_Shift_Del_p.K553fs|CRB1_ENST00000543483.1_Frame_Shift_Del_p.K252fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.K484fs	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	553	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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						ATCAGTCAAAGGTGCTTCTGT	0.458																																																	0								ENSG00000134376						126	127	127					1																	197390617		2203	4300	6503	CRB1	SO:0001589	frameshift_variant	0				HGNC		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.1659delG	1.37:g.197390617delG	ENSP00000356370:p.Lys553fs	Somatic	0	60	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	33	54.79	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Frame_Shift_Del	DEL	34	0	0	37	30.19	16	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.V554fs	ENST00000367400.3	37	c.1659	CCDS1390.1	1																																																																																			-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	G	NM_201253			197390617	1	no_errors	ENST00000367400	ensembl	human	known	74_37	frame_shift_del	DEL	0.002	-	-	197390617	G	-	197390617	7	5	154	1	0	1	0	1	0	0	0	0	3850	991	35	0	1681	0	CRB1	1	197390617	Frame_Shift_Del	DEL	G	TCGA-IE-A4EK-01A-11D-A24N-09	41153233	197390617	51860004	4	11160											
OPTC	26254	genome.wustl.edu	37	chr1	203468847	203468847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgccttccgcctgctAcatgccctccaggacctcat	7	16	1	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr1:203468847A>G	ENST00000367222.2	+	5	716	c.600A>G	c.(598-600)ctA>ctG	p.L200L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	200					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGCCTGCTACATGCCCTCC	0.537																																																	0								ENSG00000188770						229	224	226					1																	203468847		2203	4300	6503	OPTC	SO:0001819	synonymous_variant	0			-	HGNC	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"oculoglycan"	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.600A>G	1.37:g.203468847A>G		Somatic	0	79	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	41	51.19	Q5T2G4	Silent	SNP	27	0	0	14	50.00	14	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L200	ENST00000367222.2	37	c.600	CCDS1439.1	1																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.537	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPTC	protein_coding	OTTHUMT00000087964.1	A	NM_014359	-		203468847	1	no_errors	ENST00000367222	ensembl	human	known	74_37	silent	SNP	0.997	G	G	203468847	A	G	203468847	2	3	154	1	0	0	0	0	0	0	0	1	10890	378	14	5		5	OPTC	1	203468847	Silent	SNP	A	TCGA-IE-A4EK-01A-11D-A24N-09	6078230	203468847	45781774	5	11161											
SCN1A	6323	genome.wustl.edu	37	chr2	166897761	166897761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtttcctactgtaagcaCattattgaaatggtccgtca	7	9	1	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr2:166897761C>T	ENST00000303395.4	-	13	2394	c.2395G>A	c.(2395-2397)Gtg>Atg	p.V799M	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V771M|SCN1A_ENST00000375405.3_Missense_Mutation_p.V788M|SCN1A_ENST00000423058.2_Missense_Mutation_p.V799M|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	799					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)	ACTGTAAGCACATTATTGAAA	0.368																																																	0								ENSG00000144285						80	72	75					2																	166897761		2203	4300	6503	SCN1A	SO:0001583	missense	0			-	HGNC	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.2395G>A	2.37:g.166897761C>T	ENSP00000303540:p.Val799Met	Somatic	0	36	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	33	0	0	54	11.48	7	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.V799M	ENST00000303395.4	37	c.2395	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046820	0.36085	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000020	D	0.95223	0.8451	L	0.39020	1.185	0.43191	D	0.995022	B;B;B	0.20671	0.047;0.028;0.039	B;B;B	0.19148	0.013;0.006;0.024	D	0.92700	0.6174	10	0.16420	T	0.52	.	19.52	0.95182	0.0:1.0:0.0:0.0	.	788;771;799	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	799;799;788;771	ENSP00000407030:V799M;ENSP00000303540:V799M;ENSP00000364554:V788M;ENSP00000386312:V771M	ENSP00000303540:V799M	V	-	1	0	SCN1A	166606007	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.866000	0.56040	2.671000	0.90904	0.591000	0.81541	GTG	-	NULL		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920	-		166897761	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166897761	C	T	166897761	3	4	154	1	0	0	0	0	1	0	0	0	13922	478	17	2	3690	2	SCN1A	2	166897761	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09		166897761	76301612	6	11162											
SCN9A	6335	genome.wustl.edu	37	chr2	167168143	167168143	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttggggcttcttcatcatCatctttcttttcttctttgg	6	10	8	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr2:167168143C>A	ENST00000409435.1	-	1	123	c.124G>T	c.(124-126)Gat>Tat	p.D42Y	SCN9A_ENST00000303354.6_Missense_Mutation_p.D42Y|SCN9A_ENST00000409672.1_Missense_Mutation_p.D42Y|SCN9A_ENST00000375387.4_Missense_Mutation_p.D42Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	42					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCATCATCATCTTTCTTT	0.473																																																	0								ENSG00000169432						110	116	114					2																	167168143		2023	4212	6235	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.124G>T	2.37:g.167168143C>A	ENSP00000386330:p.Asp42Tyr	Somatic	0	62	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	26	0	0	14	61.11	22	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D42Y	ENST00000409435.1	37	c.124	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	c	12.07	1.828552	0.32329	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96365	-3.97;-3.99;-3.99;-3.99	5.33	4.46	0.54185	.	0.506884	0.19557	N	0.111405	D	0.97720	0.9252	M	0.89414	3.03	0.42028	D	0.991016	P	0.47484	0.896	P	0.54924	0.764	D	0.98137	1.0434	10	0.87932	D	0	.	13.5435	0.61688	0.0:0.9238:0.0:0.0762	.	42	E7EUN6	.	Y	42	ENSP00000386306:D42Y;ENSP00000364536:D42Y;ENSP00000304748:D42Y;ENSP00000386330:D42Y	ENSP00000304748:D42Y	D	-	1	0	SCN9A	166876389	0.295000	0.24389	0.698000	0.30274	0.058000	0.15608	1.569000	0.36428	1.253000	0.44018	-0.218000	0.12543	GAT	-	NULL		0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	C	NM_002977	-		167168143	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	0.843	A	A	167168143	C	A	167168143	3	1	154	1	0	0	0	0	1	0	0	0	13933	826	29	3	5913	3	SCN9A	2	167168143	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09	270382	167168143	76031230	7	11163											
PMS1	5378	genome.wustl.edu	37	chr2	190728845	190728845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatccaaaacagaggtaAtgttattaaatccatataga	6	6	0	3			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr2:190728845A>G	ENST00000441310.2	+	10	2466	c.2233A>G	c.(2233-2235)Atg>Gtg	p.M745V	PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Missense_Mutation_p.M706V|PMS1_ENST00000418224.3_Missense_Mutation_p.M569V|PMS1_ENST00000432292.3_Missense_Mutation_p.M569V	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	745					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AACAGAGGTAATGTTATTAAA	0.373			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0								ENSG00000064933						112	122	118					2																	190728845		2203	4300	6503	PMS1	SO:0001583	missense	0			-	HGNC		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2233A>G	2.37:g.190728845A>G	ENSP00000406490:p.Met745Val	Somatic	0	42	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	27	0	0	51	0.00	0	pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N	p.M745V	ENST00000441310.2	37	c.2233	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	A	12.28	1.892043	0.33442	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.87571	1.88;1.88;1.88;1.88;-2.27;1.88	5.45	5.45	0.79879	.	0.191150	0.64402	D	0.000003	D	0.83468	0.5261	L	0.56769	1.78	0.37555	D	0.918852	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.16289	0.015;0.014;0.015	T	0.80741	-0.1247	10	0.36615	T	0.2	-12.7833	10.1139	0.42579	0.9261:0.0:0.0739:0.0	.	745;706;745	Q4VAL4;Q5FBZ3;P54277	.;.;PMS1_HUMAN	V	745;569;706;569;684;133	ENSP00000406490:M745V;ENSP00000404492:M569V;ENSP00000387125:M706V;ENSP00000398378:M569V;ENSP00000389938:M684V;ENSP00000396232:M133V	ENSP00000387125:M706V	M	+	1	0	PMS1	190437090	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.823000	0.75282	2.301000	0.77427	0.524000	0.50904	ATG	-	NULL		0.373	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	protein_coding	OTTHUMT00000255918.2	A		-		190728845	1	no_errors	ENST00000441310	ensembl	human	known	74_37	missense	SNP	0.994	G	G	190728845	A	G	190728845	3	3	154	1	0	0	0	0	1	0	0	0	12144	101	4	5	2267	5	PMS1	2	190728845	Missense_Mutation	SNP	A	TCGA-IE-A4EK-01A-11D-A24N-09	23560702	190728845	52470528	8	11164											
SLC22A14	9389	genome.wustl.edu	37	chr3	38350537	38350537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgttgctgacagggatcGcctacagtcttccccactgg	11	14	1	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr3:38350537G>A	ENST00000273173.4	+	4	959	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	SLC22A14_ENST00000448498.1_Missense_Mutation_p.A290T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	290					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GACAGGGATCGCCTACAGTCT	0.572																																																	0								ENSG00000144671						167	153	157					3																	38350537		2203	4300	6503	SLC22A14	SO:0001583	missense	0			-	HGNC	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.868G>A	3.37:g.38350537G>A	ENSP00000273173:p.Ala290Thr	Somatic	0	129	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	103	35.22	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	29	0	0	21	58.82	30	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A290T	ENST00000273173.4	37	c.868	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276695	0.40294	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.61392	0.11;0.11	5.02	2.19	0.27852	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.313592	0.33253	N	0.005107	T	0.71492	0.3346	M	0.88377	2.95	0.09310	N	0.999999	D	0.67145	0.996	P	0.61477	0.889	T	0.63033	-0.6727	10	0.87932	D	0	.	4.8404	0.13487	0.159:0.0:0.4076:0.4333	.	290	Q9Y267	S22AE_HUMAN	T	290	ENSP00000396283:A290T;ENSP00000273173:A290T	ENSP00000273173:A290T	A	+	1	0	SLC22A14	38325541	0.004000	0.15560	0.002000	0.10522	0.033000	0.12548	0.251000	0.18257	0.226000	0.20979	0.655000	0.94253	GCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.572	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	protein_coding	OTTHUMT00000253742.3	G	NM_004803	-		38350537	1	no_errors	ENST00000273173	ensembl	human	known	74_37	missense	SNP	0.031	A	A	38350537	G	A	38350537	3	1	154	1	0	0	0	0	1	0	0	0	14453	1087	38	1	882	1	SLC22A14	3	38350537	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		38350537	159671893	9	11165											
MED12L	116931	genome.wustl.edu	37	chr3	151101578	151101578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctaggtaggaggaatGtttgacacggtgcagaggag	17	5	1	2			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr3:151101578G>A	ENST00000474524.1	+	32	4625	c.4587G>A	c.(4585-4587)atG>atA	p.M1529I	MED12L_ENST00000273432.4_Missense_Mutation_p.M1389I|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1529						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGGAGGAATGTTTGACACGG	0.408																																																	0								ENSG00000144893						80	75	77					3																	151101578		2203	4300	6503	MED12L	SO:0001583	missense	0			-	HGNC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4587G>A	3.37:g.151101578G>A	ENSP00000417235:p.Met1529Ile	Somatic	0	59	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	38.46	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	39	0	0	18	63.27	31	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.M1529I	ENST00000474524.1	37	c.4587	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807832	0.90623	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.63417	0.12;-0.04	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	M	0.69823	2.125	0.80722	D	1	P;B;B	0.49862	0.929;0.112;0.275	P;B;B	0.53549	0.729;0.076;0.075	T	0.76790	-0.2829	10	0.87932	D	0	-31.7279	19.8936	0.96942	0.0:0.0:1.0:0.0	.	1389;1528;1529	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	I	1529;1389	ENSP00000417235:M1529I;ENSP00000273432:M1389I	ENSP00000273432:M1389I	M	+	3	0	MED12L	152584268	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.520000	0.98027	2.793000	0.96121	0.655000	0.94253	ATG	-	NULL		0.408	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	protein_coding	OTTHUMT00000357707.2	G	NM_053002	-		151101578	1	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151101578	G	A	151101578	3	1	154	1	0	0	0	0	1	0	0	0	9431	1377	48	2	4713	2	MED12L	3	151101578	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09	112751041	151101578	46920852	10	11166											
ODZ3	55714	genome.wustl.edu	37	chr4	183267832	183267832	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaccctaaggcagttaggAgtttgtgaaccagcaactcg	10	9	0	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr4:183267832A>T	ENST00000511685.1	+	3	384	c.261A>T	c.(259-261)ggA>ggT	p.G87G	TENM3_ENST00000406950.2_Silent_p.G87G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	87	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										GGCAGTTAGGAGTTTGTGAAC	0.408																																																	0								ENSG00000218336						53	51	52					4																	183267832		1851	4091	5942	TENM3	SO:0001819	synonymous_variant	0			-	HGNC	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.261A>T	4.37:g.183267832A>T		Somatic	0	79	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	84	8.70	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	36	0	0	47	17.54	10	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G87	ENST00000511685.1	37	c.261	CCDS47165.1	4																																																																																			-	pfam_Ten_N		0.408	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	A		-		183267832	1	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	SNP	0.995	T	T	183267832	A	T	183267832	2	4	154	1	0	0	0	0	0	0	0	1	10838	291	11	5		5	ODZ3	4	183267832	Silent	SNP	A	TCGA-IE-A4EK-01A-11D-A24N-09		183267832	7886444	11	11167											
IQGAP2	10788	genome.wustl.edu	37	chr5	75884734	75884734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttttttctttcagtttGtatctgttcaaactaggaat	7	5	4	0	rs1131232	byFrequency	TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr5:75884734G>A	ENST00000274364.6	+	6	759	c.462G>A	c.(460-462)ttG>ttA	p.L154L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	154	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTTTCAGTTTGTATCTGTTCA	0.279													A|||	3486	0.696086	0.7572	0.6671	5008	,	,		16795	0.751		0.492	False		,,,				2504	0.7873																0								ENSG00000145703	A		3096,1310	441.0+/-346.2	1102,892,209	68	75	72		462	-3.2	1	5	dbSNP_119	72	4100,4500	592.2+/-393.0	958,2184,1158	no	coding-synonymous	IQGAP2	NM_006633.2		2060,3076,1367	AA,AG,GG		47.6744,29.7322,44.6717		154/1576	75884734	7196,5810	2203	4300	6503	IQGAP2	SO:0001819	synonymous_variant	0			-	HGNC	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.462G>A	5.37:g.75884734G>A		Somatic	0	29	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	30	0	0	60	0.00	0	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.L154	ENST00000274364.6	37	c.462	CCDS34188.1	5																																																																																			-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain		0.279	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	protein_coding	OTTHUMT00000368877.1	G	NM_006633	rs1131232		75884734	1	no_errors	ENST00000274364	ensembl	human	known	74_37	silent	SNP	0.991	A	A	75884734	G	A	75884734	2	1	154	1	0	0	0	0	0	0	0	1	7817	1368	48	2		2	IQGAP2	5	75884734	Silent	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		75884734	105030526	12	11168											
RIMS1	22999	genome.wustl.edu	37	chr6	72960727	72960727	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtagagattttagagaaCgaatgttagaaataactgtg	10	3	0	3			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr6:72960727C>T	ENST00000521978.1	+	14	2476	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R826*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R285*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.R219*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R826*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R826*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R300*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R826*|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R300*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R826*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R826*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R826*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	826	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)				TTTTAGAGAACGAATGTTAGA	0.323																																																	0								ENSG00000079841						84	80	81					6																	72960727		1819	4070	5889	RIMS1	SO:0001587	stop_gained	0			-	HGNC	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.2476C>T	6.37:g.72960727C>T	ENSP00000428417:p.Arg826*	Somatic	0	35	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	34	0	0	25	48.98	24	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R826*	ENST00000521978.1	37	c.2476	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.796964|10.796964	0.99469|0.99469	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	.|.	.|.	.|.	5.69|5.69	3.87|3.87	0.44632|0.44632	.|.	0.119184|.	0.37437|.	N|.	0.002093|.	.|T	.|0.59742	.|0.2216	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60078	.|-0.7333	.|4	0.02654|.	T|.	1|.	-6.9827|-6.9827	14.8021|14.8021	0.69924|0.69924	0.2771:0.7228:0.0:0.0|0.2771:0.7228:0.0:0.0	.|.	.|.	.|.	.|.	X|M	826;826;826;826;826;826;826;826;826;826;826;826;300;300;219;219;285;51|399	.|.	ENSP00000264839:R826X|.	R|T	+|+	1|2	2|0	RIMS1|RIMS1	73017448|73017448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.027000|6.027000	0.70881|0.70881	0.706000|0.706000	0.31912|0.31912	-0.291000|-0.291000	0.09656|0.09656	CGA|ACG	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.323	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	C		-		72960727	1	no_errors	ENST00000521978	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	72960727	C	T	72960727	4	4	154	1	0	0	0	0	0	1	0	0	13375	528	19	1	2693	1	RIMS1	6	72960727	Nonsense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09		72960727	98154340	13	11169											
FAM184A	79632	genome.wustl.edu	37	chr6	119345393	119345393	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctttattcaacttgccttCataatcctcaattagtttct	3	10	4	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr6:119345393C>A	ENST00000338891.7	-	2	1188	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E129*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E129*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E129*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E249*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	249						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AACTTGCCTTCATAATCCTCA	0.423																																																	0								ENSG00000111879						93	84	87					6																	119345393		1885	4104	5989	FAM184A	SO:0001587	stop_gained	0			-	HGNC	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.745G>T	6.37:g.119345393C>A	ENSP00000342604:p.Glu249*	Somatic	0	79	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	36	0	0	47	9.62	5	superfamily_Prefoldin	p.E249*	ENST00000338891.7	37	c.745	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379518	0.82682	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.2622	18.8673	0.92298	0.0:1.0:0.0:0.0	.	.	.	.	X	249;129;129;249;129	.	ENSP00000342604:E249X	E	-	1	0	FAM184A	119387092	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.398000	0.79919	2.534000	0.85438	0.655000	0.94253	GAA	-	NULL		0.423	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	protein_coding	OTTHUMT00000042009.3	C	NM_024581	-		119345393	-1	no_errors	ENST00000338891	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	119345393	C	A	119345393	4	1	154	1	0	0	0	0	0	1	0	0	5513	835	29	3	2745	3	FAM184A	6	119345393	Nonsense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09	46384666	119345393	51769674	14	11170											
C6orf191	253582	genome.wustl.edu	37	chr6	130166922	130166922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctacttactcaaacatcaCgcagcccatgctcagggaca	7	14	3	0	rs143949103		TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr6:130166922C>T	ENST00000368143.1	-	2	191	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TMEM244_ENST00000438392.1_Missense_Mutation_p.V37M	NM_001010876.1	NP_001010876.1	Q5VVB8	TM244_HUMAN	transmembrane protein 244	37						integral component of membrane (GO:0016021)		p.V37M(1)									TCAAACATCACGCAGCCCATG	0.358													C|||	1	0.000199681	0	0	5008	,	,		18431	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000203756	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111	103	106		109	-2.4	0	6	dbSNP_134	106	0,8600		0,0,4300	yes	missense	C6orf191	NM_001010876.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	37/129	130166922	1,13005	2203	4300	6503	TMEM244	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS34536.1	6q22.33	2012-02-21	2012-02-21	2012-02-21	ENSG00000203756	ENSG00000203756			21571	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 191"	C6orf191			Standard	NM_001010876		Approved	bA174C7.4	uc003qbs.3	Q5VVB8	OTTHUMG00000015553	ENST00000368143.1:c.109G>A	6.37:g.130166922C>T	ENSP00000357125:p.Val37Met	Somatic	0	41	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90		Missense_Mutation	SNP	29	0	0	20	63.64	35	pfam_Integral_membrane_SYS1-rel	p.V37M	ENST00000368143.1	37	c.109	CCDS34536.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.211	-0.161646	0.06502	2.27E-4	0.0	ENSG00000203756	ENST00000368143;ENST00000438392	T;T	0.38401	1.14;1.14	4.41	-2.44	0.06502	.	0.691250	0.12851	N	0.433943	T	0.03434	0.0099	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	10	0.30854	T	0.27	-33.3459	5.9151	0.19050	0.0:0.2501:0.3143:0.4356	.	37	Q5VVB8	CF191_HUMAN	M	37	ENSP00000357125:V37M;ENSP00000403755:V37M	ENSP00000357125:V37M	V	-	1	0	C6orf191	130208615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-0.489000	0.06716	-2.688000	0.00140	GTG	-	pfam_Integral_membrane_SYS1-rel		0.358	TMEM244-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM244	protein_coding	OTTHUMT00000042194.1	C	NM_001010876	rs143949103		130166922	-1	no_errors	ENST00000368143	ensembl	human	known	74_37	missense	SNP	0.000	T	T	130166922	C	T	130166922	3	4	154	1	0	0	0	0	1	0	0	0	2350	536	19	1	293	1	C6orf191	6	130166922	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09	10821529	130166922	40948145	15	11171											
ARID1B	57492	genome.wustl.edu	37	chr6	157521934	157521934	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacagcagccagcagcaggaGatgtacaaccagtatggagg	13	9	0	1	rs139512931		TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr6:157521934G>A	ENST00000350026.5	+	17	4168	c.4167G>A	c.(4165-4167)gaG>gaA	p.E1389E	ARID1B_ENST00000275248.4_Silent_p.E1384E|ARID1B_ENST00000367148.1_Silent_p.E1442E|ARID1B_ENST00000346085.5_Silent_p.E1402E	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1389					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCAGCAGGAGATGTACAACC	0.617																																																	0								ENSG00000049618	G	,	0,4406		0,0,2203	60	64	63		4167,4206	-0.5	1	6	dbSNP_134	63	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	,	1389/2237,1402/2250	157521934	2,12996	2203	4296	6499	ARID1B	SO:0001819	synonymous_variant	0			-	HGNC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4167G>A	6.37:g.157521934G>A		Somatic	0	41	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	35	0	0	36	7.69	3	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E1442	ENST00000350026.5	37	c.4326	CCDS5251.2	6																																																																																			-	NULL		0.617	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	protein_coding	OTTHUMT00000372723.1	G	NM_020732	rs139512931		157521934	1	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	SNP	0.987	A	A	157521934	G	A	157521934	2	1	154	1	0	0	0	0	0	0	0	1	914	933	33	2		2	ARID1B	6	157521934	Silent	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09	27355012	157521934	13593133	16	11172											
EZR	7430	genome.wustl.edu	37	chr6	159206479	159206479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagatctcatcgctaaggAttccttccttcacttggagg	9	10	2	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr6:159206479A>G	ENST00000367075.3	-	5	497	c.329T>C	c.(328-330)aTc>aCc	p.I110T	EZR_ENST00000392177.4_Missense_Mutation_p.I78T|EZR_ENST00000337147.7_Missense_Mutation_p.I110T|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	110	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		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)		ATCGCTAAGGATTCCTTCCTT	0.527			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0								ENSG00000092820						115	89	98					6																	159206479		2203	4300	6503	EZR	SO:0001583	missense	0			-	HGNC	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.329T>C	6.37:g.159206479A>G	ENSP00000356042:p.Ile110Thr	Somatic	0	98	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	55	39.56	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	21	0	0	20	50.00	20	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.I110T	ENST00000367075.3	37	c.329	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944019	0.53079	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.85484	-1.99;-1.99;-1.99	4.34	4.34	0.51931	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96627	0.9464	10	0.87932	D	0	.	13.6987	0.62595	1.0:0.0:0.0:0.0	.	78;110	E7EQR4;P15311	.;EZRI_HUMAN	T	110;110;78	ENSP00000338934:I110T;ENSP00000356042:I110T;ENSP00000376016:I78T	ENSP00000338934:I110T	I	-	2	0	EZR	159126467	1.000000	0.71417	0.071000	0.20095	0.264000	0.26372	9.028000	0.93712	1.825000	0.53177	0.528000	0.53228	ATC	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.527	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	protein_coding	OTTHUMT00000042878.1	A	NM_003379	-		159206479	-1	no_errors	ENST00000337147	ensembl	human	known	74_37	missense	SNP	0.998	G	G	159206479	A	G	159206479	3	3	154	1	0	0	0	0	1	0	0	0	5337	333	12	5	1471	5	EZR	6	159206479	Missense_Mutation	SNP	A	TCGA-IE-A4EK-01A-11D-A24N-09	1684545	159206479	11908588	17	11173											
FRMD3	257019	genome.wustl.edu	37	chr9	85958162	85958162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggagcacagcaggcggcCatgaaaaatgtcccttttaa	10	9	0	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr9:85958162C>T	ENST00000304195.3	-	5	621	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	FRMD3_ENST00000376438.1_Missense_Mutation_p.G139S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	139	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGCAGGCGGCCATGAAAAATG	0.473																																																	0								ENSG00000172159						104	110	108					9																	85958162		2035	4194	6229	FRMD3	SO:0001583	missense	0			-	HGNC	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.415G>A	9.37:g.85958162C>T	ENSP00000303508:p.Gly139Ser	Somatic	0	46	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	28	0	0	53	0.00	0	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.G139S	ENST00000304195.3	37	c.415	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.734777	0.96865	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.80909	-1.43;-1.43	6.17	6.17	0.99709	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94182	0.7433	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	139;139	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	S	139;139;35	ENSP00000365621:G139S;ENSP00000303508:G139S	ENSP00000303508:G139S	G	-	1	0	FRMD3	85147982	1.000000	0.71417	0.816000	0.32577	0.958000	0.62258	7.693000	0.84214	2.941000	0.99782	0.655000	0.94253	GGC	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like		0.473	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	protein_coding	OTTHUMT00000157355.1	C	NM_174938	-		85958162	-1	no_errors	ENST00000304195	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85958162	C	T	85958162	3	4	154	1	0	0	0	0	1	0	0	0	6052	594	21	2	1418	2	FRMD3	9	85958162	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09		85958162	55255269	18	11174											
IL2RA	3559	genome.wustl.edu	37	chr10	6060047	6060047	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgagcccactcaggaGgaggacgctgatcagcagga	15	11	2	2			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr10:6060047G>T	ENST00000379959.3	-	7	936	c.763C>A	c.(763-765)Ctc>Atc	p.L255I	SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.L246I|IL2RA_ENST00000379954.1_Missense_Mutation_p.L183I	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	255					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCACTCAGGAGGAGGACGCTG	0.612																																																	0								ENSG00000134460						58	50	53					10																	6060047		2203	4300	6503	IL2RA	SO:0001583	missense	0			-	HGNC	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.763C>A	10.37:g.6060047G>T	ENSP00000369293:p.Leu255Ile	Somatic	0	36	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q5W007	Missense_Mutation	SNP	20	0	0	41	0.00	0	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L255I	ENST00000379959.3	37	c.763	CCDS7076.1	10	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715716	0.30413	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.56444	1.12;0.46;1.25	3.25	2.34	0.29019	.	0.141489	0.31167	N	0.008137	T	0.65186	0.2667	M	0.70275	2.135	0.20307	N	0.999911	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.987	T	0.52917	-0.8511	10	0.66056	D	0.02	-13.0263	6.4794	0.22055	0.1354:0.0:0.8646:0.0	.	183;255	Q5W005;P01589	.;IL2RA_HUMAN	I	255;145;183;246	ENSP00000369293:L255I;ENSP00000369287:L183I;ENSP00000256876:L246I	ENSP00000256876:L246I	L	-	1	0	IL2RA	6100053	0.843000	0.29541	0.334000	0.25495	0.093000	0.18481	0.857000	0.27831	0.921000	0.36994	-0.258000	0.10820	CTC	-	NULL		0.612	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	protein_coding	OTTHUMT00000046627.1	G	NM_000417	-		6060047	-1	no_errors	ENST00000379959	ensembl	human	known	74_37	missense	SNP	0.485	T	T	6060047	G	T	6060047	3	4	154	1	0	0	0	0	1	0	0	0	7688	1000	35	3	63	3	IL2RA	10	6060047	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		6060047	129474700	19	11175											
EPC1	80314	genome.wustl.edu	37	chr10	32582648	32582648	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatcataatcaggctgttCagcatccaaactaaaagctg	6	10	3	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr10:32582648C>T	ENST00000263062.8	-	3	600	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	EPC1_ENST00000375110.2_Missense_Mutation_p.E61K|EPC1_ENST00000319778.6_Missense_Mutation_p.E111K	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	111					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCAGGCTGTTCAGCATCCAAA	0.368																																																	0								ENSG00000120616						52	47	49					10																	32582648		2203	4300	6503	EPC1	SO:0001583	missense	0			-	HGNC	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.331G>A	10.37:g.32582648C>T	ENSP00000263062:p.Glu111Lys	Somatic	0	47	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	24	0	0	57	0.00	0	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.E111K	ENST00000263062.8	37	c.331	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.505035	0.96371	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.42513	0.97;0.97;0.97	5.67	5.67	0.87782	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	0.994;0.999;1.0;0.999	D;D;D;D	0.91635	0.964;0.969;0.999;0.991	T	0.63404	-0.6645	10	0.48119	T	0.1	-14.885	19.7564	0.96294	0.0:1.0:0.0:0.0	.	111;61;111;111	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	K	61;111;111	ENSP00000364251:E61K;ENSP00000318559:E111K;ENSP00000263062:E111K	ENSP00000263062:E111K	E	-	1	0	EPC1	32622654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.677000	0.91161	0.467000	0.42956	GAA	-	pfam_Enhancer_polycomb-like_N		0.368	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	protein_coding	OTTHUMT00000047484.1	C		-		32582648	-1	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32582648	C	T	32582648	3	4	154	1	0	0	0	0	1	0	0	0	5162	835	29	2	2231	2	EPC1	10	32582648	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09	26522601	32582648	102952099	20	11176											
GDF2	2658	genome.wustl.edu	37	chr10	48416492	48416492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactcaggttaaggctgcGcaggaaatccaccttcacgt	9	14	2	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr10:48416492G>A	ENST00000249598.1	-	1	361	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	68			R -> L (in HHT5; impaired protein processing and function). {ECO:0000269|PubMed:23972370}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R68C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTAAGGCTGCGCAGGAAATCC	0.577																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000128802						78	73	75					10																	48416492		2203	4300	6503	GDF2	SO:0001583	missense	0			-	HGNC	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.202C>T	10.37:g.48416492G>A	ENSP00000249598:p.Arg68Cys	Somatic	0	48	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q5VSQ9|Q9Y571	Missense_Mutation	SNP	26	0	0	47	7.69	4	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.R68C	ENST00000249598.1	37	c.202	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272845	0.59649	.	.	ENSG00000128802	ENST00000249598	T	0.67865	-0.29	5.22	5.22	0.72569	Transforming growth factor-beta, N-terminal (1);	0.048640	0.85682	D	0.000000	T	0.77831	0.4189	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.79107	-0.1939	10	0.62326	D	0.03	.	7.3187	0.26515	0.0861:0.0:0.7337:0.1802	.	68	Q9UK05	GDF2_HUMAN	C	68	ENSP00000249598:R68C	ENSP00000249598:R68C	R	-	1	0	GDF2	48036498	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.013000	0.49582	2.595000	0.87683	0.655000	0.94253	CGC	-	pfam_TGF-b_N		0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	protein_coding	OTTHUMT00000047891.1	G	NM_016204	-		48416492	-1	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48416492	G	A	48416492	3	1	154	1	0	0	0	0	1	0	0	0	6316	1087	38	1	1095	1	GDF2	10	48416492	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09	15833844	48416492	87118255	21	11177											
PTEN	5728	genome.wustl.edu	37	chr10	89692895	89692895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaattcactgtaaagctGgaaagggacgaactggtgta	12	7	1	0	rs587781255		TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr10:89692895G>A	ENST00000371953.3	+	5	1736	c.379G>A	c.(379-381)Gga>Aga	p.G127R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	127	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.G127R(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGTAAAGCTGGAAAGGGACG	0.408		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)						ENSG00000171862						141	130	134					10																	89692895		2203	4300	6503	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.379G>A	10.37:g.89692895G>A	ENSP00000361021:p.Gly127Arg	Somatic	0	90	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	6	86.36	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	29	0	0	3	90.00	27	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G127R	ENST00000371953.3	37	c.379	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.108288	0.94292	.	.	ENSG00000171862	ENST00000371953	D	0.99957	-8.97	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99969	0.9989	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96771	0.9568	9	.	.	.	-11.1665	18.7776	0.91918	0.0:0.0:1.0:0.0	.	127	P60484	PTEN_HUMAN	R	127	ENSP00000361021:G127R	.	G	+	1	0	PTEN	89682875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGA	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	G	NM_000314	-		89692895	1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89692895	G	A	89692895	3	1	154	1	0	0	0	0	1	0	0	0	12743	1349	47	2	397	2	PTEN	10	89692895	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09	41276403	89692895	45841852	22	11178											
MMP3	4314	genome.wustl.edu	37	chr11	102709402	102709402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcctcttgggtatccaGctcgtacctcatttcctctg	9	13	3	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr11:102709402G>T	ENST00000299855.5	-	8	1365	c.1109C>A	c.(1108-1110)gCt>gAt	p.A370D	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	370					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TGGGTATCCAGCTCGTACCTC	0.383																																																	0								ENSG00000149968						94	87	89					11																	102709402		2203	4299	6502	MMP3	SO:0001583	missense	0			-	HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1109C>A	11.37:g.102709402G>T	ENSP00000299855:p.Ala370Asp	Somatic	0	56	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	24	0	0	54	0.00	0	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.A370D	ENST00000299855.5	37	c.1109	CCDS8323.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.54|11.54	1.667809|1.667809	0.29604|0.29604	.|.	.|.	ENSG00000149968|ENSG00000149968	ENST00000299855|ENST00000434103	T|.	0.02236|.	4.38|.	5.07|5.07	4.15|4.15	0.48705|0.48705	Hemopexin/matrixin (2);|.	0.264406|.	0.19963|.	U|.	0.102178|.	T|T	0.46034|0.46034	0.1372|0.1372	L|L	0.52905|0.52905	1.665|1.665	0.09310|0.09310	N|N	1|1	B|.	0.19445|.	0.036|.	B|.	0.36335|.	0.222|.	T|T	0.32214|0.32214	-0.9915|-0.9915	10|5	0.42905|.	T|.	0.14|.	.|.	11.0742|11.0742	0.48021|0.48021	0.0:0.1393:0.7159:0.1448|0.0:0.1393:0.7159:0.1448	.|.	370|.	P08254|.	MMP3_HUMAN|.	D|M	370|14	ENSP00000299855:A370D|.	ENSP00000299855:A370D|.	A|L	-|-	2|1	0|2	MMP3|MMP3	102214612|102214612	0.001000|0.001000	0.12720|0.12720	0.518000|0.518000	0.27811|0.27811	0.236000|0.236000	0.25371|0.25371	1.029000|1.029000	0.30140|0.30140	1.488000|1.488000	0.48433|0.48433	0.591000|0.591000	0.81541|0.81541	GCT|CTG	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	G	NM_002422	-		102709402	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	missense	SNP	0.026	T	T	102709402	G	T	102709402	3	4	154	1	0	0	0	0	1	0	0	0	9668	971	34	3	336	3	MMP3	11	102709402	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		102709402	32297114	23	11179											
GDF3	9573	genome.wustl.edu	37	chr12	7843092	7843092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttacctggcttaggggtGgtctggccccacacatgagg	13	10	1	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr12:7843092G>A	ENST00000329913.3	-	2	524	c.477C>T	c.(475-477)acC>acT	p.T159T		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	159					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTTAGGGGTGGTCTGGCCCC	0.537																																																	0								ENSG00000184344						60	63	62					12																	7843092		2203	4300	6503	GDF3	SO:0001819	synonymous_variant	0			-	HGNC	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.477C>T	12.37:g.7843092G>A		Somatic	0	43	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	23	58.93	Q8NEJ4	Silent	SNP	36	0	0	14	58.82	20	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.T159	ENST00000329913.3	37	c.477	CCDS8581.1	12																																																																																			-	pfam_TGF-b_N		0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	protein_coding	OTTHUMT00000399717.1	G		-		7843092	-1	no_errors	ENST00000329913	ensembl	human	known	74_37	silent	SNP	0.000	A	A	7843092	G	A	7843092	2	1	154	1	0	0	0	0	0	0	0	1	6317	1335	47	2		2	GDF3	12	7843092	Silent	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		7843092	126008803	24	11180											
MYCBP2	23077	genome.wustl.edu	37	chr13	77836223	77836223	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcattagcgcaaactctcGtcctgcaccaagaattgctg	7	12	2	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr13:77836223G>T	ENST00000544440.2	-	11	1515	c.1498C>A	c.(1498-1500)Cga>Aga	p.R500R	MYCBP2_ENST00000407578.2_Silent_p.R538R|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.R500R					MYC binding protein 2, E3 ubiquitin protein ligase											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)		GCAAACTCTCGTCCTGCACCA	0.318																																																	0								ENSG00000005810						88	86	86					13																	77836223		2203	4299	6502	MYCBP2	SO:0001819	synonymous_variant	0			-	HGNC	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.1498C>A	13.37:g.77836223G>T		Somatic	0	41	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Silent	SNP	38	0	0	56	0.00	0	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R538	ENST00000544440.2	37	c.1612		13																																																																																			-	superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold		0.318	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	G	NM_015057	-		77836223	-1	no_errors	ENST00000407578	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77836223	G	T	77836223	2	4	154	1	0	0	0	0	0	0	0	1	10020	1153	40	3		3	MYCBP2	13	77836223	Silent	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		77836223	37333655	25	11181											
LAMA1	284217	genome.wustl.edu	37	chr18	6975937	6975937	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggtccataacttacaGcggtgctgctaccgaggtag	11	11	0	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr18:6975937G>T	ENST00000389658.3	-	45	6581	c.6488C>A	c.(6487-6489)gCt>gAt	p.A2163D	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2163	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				ATAACTTACAGCGGTGCTGCT	0.383																																																	0								ENSG00000101680						136	136	136					18																	6975937		2203	4300	6503	LAMA1	SO:0001630	splice_region_variant	0			-	HGNC	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.6489+1C>A	18.37:g.6975937G>T		Somatic	0	33	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Missense_Mutation	SNP	33	0	0	46	0.00	0	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.A2163D	ENST00000389658.3	37	c.6488	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	1.105	-0.660024	0.03454	.	.	ENSG00000101680	ENST00000389658	T	0.61980	0.06	5.64	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.328929	0.32134	N	0.006537	T	0.38348	0.1037	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.14755	-1.0461	10	0.15499	T	0.54	.	4.7228	0.12926	0.0:0.4925:0.1594:0.3481	.	2163	P25391	LAMA1_HUMAN	D	2163	ENSP00000374309:A2163D	ENSP00000374309:A2163D	A	-	2	0	LAMA1	6965937	0.409000	0.25368	0.001000	0.08648	0.035000	0.12851	0.856000	0.27818	0.423000	0.26033	-0.902000	0.02854	GCT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.383	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559	-	Missense_Mutation	6975937	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	0.001	T	T	6975937	G	T	6975937	5	4	154	1	0	0	0	0	0	0	1	0	8607	985	34	3	2815	3	LAMA1	18	6975937	Splice_Site	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		6975937	71101311	26	11182											
DEFB129	140881	genome.wustl.edu	37	chr20	210205	210205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttttttgctaataccaaCtttgtcatcattccaaatgc	4	10	2	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr20:210205C>A	ENST00000246105.4	+	2	376	c.345C>A	c.(343-345)aaC>aaA	p.N115K		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	115					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CTAATACCAACTTTGTCATCA	0.408																																																	0								ENSG00000125903						107	104	105					20																	210205		2203	4300	6503	DEFB129	SO:0001583	missense	0			-	HGNC	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.345C>A	20.37:g.210205C>A	ENSP00000246105:p.Asn115Lys	Somatic	0	25	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q8NES7	Missense_Mutation	SNP	28	0	0	61	0.00	0	NULL	p.N115K	ENST00000246105.4	37	c.345	CCDS12992.1	20	.	.	.	.	.	.	.	.	.	.	C	7.784	0.710200	0.15239	.	.	ENSG00000125903	ENST00000246105	T	0.40225	1.04	3.96	0.935	0.19483	.	0.568390	0.16061	N	0.231482	T	0.26810	0.0656	L	0.34521	1.04	0.09310	N	1	B	0.32203	0.36	B	0.32211	0.142	T	0.19582	-1.0301	10	0.72032	D	0.01	-10.1418	3.4826	0.07607	0.1991:0.5864:0.0:0.2145	.	115	Q9H1M3	DB129_HUMAN	K	115	ENSP00000246105:N115K	ENSP00000246105:N115K	N	+	3	2	DEFB129	158205	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.756000	0.26419	0.242000	0.21303	-0.251000	0.11542	AAC	-	NULL		0.408	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB129	protein_coding	OTTHUMT00000077430.2	C	NM_080831	-		210205	1	no_errors	ENST00000246105	ensembl	human	known	74_37	missense	SNP	0.001	A	A	210205	C	A	210205	3	1	154	1	0	0	0	0	1	0	0	0	4417	564	20	3	351	3	DEFB129	20	210205	Missense_Mutation	SNP	C	TCGA-IE-A4EK-01A-11D-A24N-09		210205	62815315	27	11183											
TUBA8	51807	genome.wustl.edu	37	chr22	18609580	18609580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcgcccatcatctctgccGagaaagcctatcacgaacag	8	15	3	1			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chr22:18609580G>A	ENST00000330423.3	+	4	908	c.835G>A	c.(835-837)Gag>Aag	p.E279K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E213K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	279					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CATCTCTGCCGAGAAAGCCTA	0.592																																																	0								ENSG00000183785						108	88	95					22																	18609580		2203	4300	6503	TUBA8	SO:0001583	missense	0			-	HGNC	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.835G>A	22.37:g.18609580G>A	ENSP00000333326:p.Glu279Lys	Somatic	0	78	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	35	52.05	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	31	0	0	21	44.74	17	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E279K	ENST00000330423.3	37	c.835	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	16.62	3.174762	0.57692	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84516	-1.86;-1.86;-1.86	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.097027	0.64402	D	0.000001	D	0.89276	0.6669	M	0.80508	2.5	0.80722	D	1	P;P;P	0.45634	0.78;0.863;0.56	B;P;B	0.46659	0.423;0.523;0.149	D	0.90480	0.4459	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	213;303;279	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	K	213;279;303	ENSP00000318575:E213K;ENSP00000333326:E279K;ENSP00000412646:E303K	ENSP00000318575:E213K	E	+	1	0	TUBA8	16989580	1.000000	0.71417	0.988000	0.46212	0.999000	0.98932	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin		0.592	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	protein_coding	OTTHUMT00000316232.3	G	NM_018943	-		18609580	1	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18609580	G	A	18609580	3	1	154	1	0	0	0	0	1	0	0	0	16757	1059	37	1	849	1	TUBA8	22	18609580	Missense_Mutation	SNP	G	TCGA-IE-A4EK-01A-11D-A24N-09		18609580	32694986	28	11184											
AR	367	genome.wustl.edu	37	chrX	66765155	66765155	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccggcgccagtttgctgcTgctgcagcagcagcagcagc	13	15	0	0			TCGA-IE-A4EK-01A-11D-A24N-09	TCGA-IE-A4EK-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56681386-d407-4f53-ae4f-6c04437652f7	0989420d-2639-41ee-912d-3526312eeb65	g.chrX:66765155T>A	ENST00000374690.3	+	1	691	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	AR_ENST00000504326.1_Missense_Mutation_p.L56Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L56Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	56	Modulating.|Poly-Leu.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGTTTGCTGCTGCTgcagcag	0.662									Androgen Insensitivity Syndrome																																								0								ENSG00000169083						10	13	12					X																	66765155		2155	4231	6386	AR	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.167T>A	X.37:g.66765155T>A	ENSP00000363822:p.Leu56Gln	Somatic	0	15	0		0.636842237273154				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	9	18.18	2	20	4.76	1	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.L56Q	ENST00000374690.3	37	c.167	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	N	8.315	0.823004	0.16678	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.59224	0.28;0.28;0.28	.	.	.	.	0.160911	0.29861	N	0.011003	T	0.42854	0.1221	N	0.02539	-0.55	0.09310	N	0.999999	B;B;D	0.76494	0.001;0.002;0.999	B;B;D	0.87578	0.0;0.0;0.998	T	0.42172	-0.9467	8	0.22109	T	0.4	.	.	.	.	.	56;56;54	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	56	ENSP00000363822:L56Q;ENSP00000421155:L56Q;ENSP00000379359:L56Q	ENSP00000363822:L56Q	L	+	2	0	AR	66681880	1.000000	0.71417	0.901000	0.35422	0.483000	0.33249	0.417000	0.21214	0.000000	0.14550	0.000000	0.15137	CTG	-	pfam_Andrgn_rcpt		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	T	NM_000044	-		66765155	1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	SNP	0.942	A	A	66765155	T	A	66765155	3	1	154	1	0	0	0	0	1	0	0	0	836	1580	55	5	169	5	AR	23	66765155	Missense_Mutation	SNP	T	TCGA-IE-A4EK-01A-11D-A24N-09		66765155	88505405	29	11185											
SCRN3	79634	genome.wustl.edu	37	chr2	175287648	175287648	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacaatgatggaaattcttCgagataaaccaagtggcatt	8	6	1	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr2:175287648C>T	ENST00000272732.6	+	6	872	c.790C>T	c.(790-792)Cga>Tga	p.R264*	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Nonsense_Mutation_p.R257*	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	264							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GGAAATTCTTCGAGATAAACC	0.348																																																	0								ENSG00000144306						84	83	83					2																	175287648		2203	4300	6503	SCRN3	SO:0001587	stop_gained	0			-	HGNC	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.790C>T	2.37:g.175287648C>T	ENSP00000272732:p.Arg264*	Somatic	0	85	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	4	93.44	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Nonsense_Mutation	SNP							pfam_Peptidase_C69	p.R264*	ENST00000272732.6	37	c.790	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.210560	0.95069	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	.	.	.	5.4	4.52	0.55395	.	0.175883	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.588	10.3475	0.43913	0.0:0.8507:0.0:0.1493	.	.	.	.	X	257;264	.	ENSP00000272732:R264X	R	+	1	2	SCRN3	174995894	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.376000	0.44292	1.288000	0.44600	-0.258000	0.10820	CGA	-	NULL		0.348	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	protein_coding	OTTHUMT00000255451.2	C	NM_024583	-		175287648	1	no_errors	ENST00000272732	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	175287648	C	T	175287648	4	4	155	1	0	0	0	0	0	1	0	0	13948	876	31	1	808	1	SCRN3	2	175287648	Nonsense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09		175287648	67911725	1	11186											
ANO7	50636	genome.wustl.edu	37	chr2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggctgctctccagcGcctgtgccctggcccaggta	11	16	2	0	rs137878201		TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr2:242147068G>A	ENST00000274979.8	+	11	1325	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	ANO7_ENST00000402430.3_Missense_Mutation_p.A407T	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	408					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTCCAGCGCCTGTGCCCT	0.622																																																	0								ENSG00000146205	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	91	86	88		1222	-0.6	0.2	2	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANO7	NM_001001891.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	408/934	242147068	2,13004	2203	4300	6503	ANO7	SO:0001583	missense	0			-	HGNC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1222G>A	2.37:g.242147068G>A	ENSP00000274979:p.Ala408Thr	Somatic	0	114	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	7	92.86	Q6IWH6	Missense_Mutation	SNP							pfam_Anoctamin	p.A408T	ENST00000274979.8	37	c.1222	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.355048	0.00217	2.27E-4	1.16E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.69175	-0.27;-0.38	2.49	-0.572	0.11745	.	0.903236	0.09240	N	0.829372	T	0.38904	0.1058	N	0.16266	0.395	0.24836	N	0.992495	B	0.28258	0.205	B	0.15870	0.014	T	0.25398	-1.0133	10	0.02654	T	1	.	6.5956	0.22672	0.5116:0.0:0.4884:0.0	.	408	Q6IWH7	ANO7_HUMAN	T	408;407	ENSP00000274979:A408T;ENSP00000385418:A407T	ENSP00000274979:A408T	A	+	1	0	ANO7	241795741	0.052000	0.20516	0.153000	0.22517	0.127000	0.20565	0.092000	0.15066	-0.049000	0.13379	0.313000	0.20887	GCC	-	pfam_Anoctamin		0.622	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	G	NM_001001891	rs137878201		242147068	1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	SNP	0.854	A	A	242147068	G	A	242147068	3	1	155	1	0	0	0	0	1	0	0	0	702	1087	38	1	1336	1	ANO7	2	242147068	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	66859420	242147068	1052305	2	11187											
ADCY5	111	genome.wustl.edu	37	chr3	123010114	123010114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagtagagctcatcattgCgccgctcgcgggccaggaag	14	11	2	1			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr3:123010114C>T	ENST00000462833.1	-	18	4385	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R708H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R716H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1058					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)		CTCATCATTGCGCCGCTCGCG	0.597																																																	0								ENSG00000173175						93	77	82					3																	123010114		2203	4300	6503	ADCY5	SO:0001583	missense	0			-	HGNC	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.3173G>A	3.37:g.123010114C>T	ENSP00000419361:p.Arg1058His	Somatic	0	82	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	46	41.77	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R1058H	ENST00000462833.1	37	c.3173	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865470	0.91511	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.82081	-1.17;-1.53;-1.57	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.85682	D	0.000000	D	0.89118	0.6624	M	0.71206	2.165	0.80722	D	1	P;D	0.89917	0.654;1.0	B;P	0.62382	0.071;0.901	D	0.88419	0.3027	10	0.36615	T	0.2	.	17.4829	0.87679	0.0:1.0:0.0:0.0	.	1058;716	O95622;B3KWA8	ADCY5_HUMAN;.	H	1058;716;708	ENSP00000419361:R1058H;ENSP00000418537:R716H;ENSP00000308685:R708H	ENSP00000308685:R708H	R	-	2	0	ADCY5	124492804	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.646000	0.83445	2.362000	0.80069	0.563000	0.77884	CGC	-	smart_A/G_cyclase		0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	protein_coding	OTTHUMT00000355889.4	C	XM_171048	-		123010114	-1	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123010114	C	T	123010114	3	4	155	1	0	0	0	0	1	0	0	0	297	768	27	1	628	1	ADCY5	3	123010114	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09		123010114	75012316	3	11188											
TMPRSS11B	132724	genome.wustl.edu	37	chr4	69107497	69107497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtagtccatagtggccAagatctttgggaagatatgc	12	7	1	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr4:69107497A>C	ENST00000332644.5	-	2	195	c.34T>G	c.(34-36)Tgg>Ggg	p.W12G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	12						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CATAGTGGCCAAGATCTTTGG	0.408																																																	0								ENSG00000185873						76	75	76					4																	69107497		2203	4300	6503	TMPRSS11B	SO:0001583	missense	0			-	HGNC	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.34T>G	4.37:g.69107497A>C	ENSP00000330475:p.Trp12Gly	Somatic	0	113	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	131	10.27	A8K4D9	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.W12G	ENST00000332644.5	37	c.34	CCDS3521.1	4	.	.	.	.	.	.	.	.	.	.	A	6.267	0.417398	0.11870	.	.	ENSG00000185873	ENST00000332644	D	0.88509	-2.39	5.19	1.35	0.21983	.	1.398320	0.04930	N	0.456744	D	0.86581	0.5967	M	0.61703	1.905	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.68443	-0.5407	10	0.33141	T	0.24	.	7.16	0.25659	0.722:0.0:0.278:0.0	.	12	Q86T26	TM11B_HUMAN	G	12	ENSP00000330475:W12G	ENSP00000330475:W12G	W	-	1	0	TMPRSS11B	68790092	0.045000	0.20229	0.061000	0.19648	0.076000	0.17211	0.539000	0.23175	0.311000	0.23014	0.482000	0.46254	TGG	-	pirsf_Pept_S1A_HAT/DESC1		0.408	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	protein_coding	OTTHUMT00000251431.2	A	NM_182502	-		69107497	-1	no_errors	ENST00000332644	ensembl	human	known	74_37	missense	SNP	0.012	C	C	69107497	A	C	69107497	3	2	155	1	0	0	0	0	1	0	0	0	16247	130	5	5	1252	5	TMPRSS11B	4	69107497	Missense_Mutation	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09		69107497	122046779	4	11189											
TRIO	7204	genome.wustl.edu	37	chr5	14359550	14359550	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagctggacgaggcGcagtcgcagatggaggagct	17	10	0	1			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr5:14359550G>T	ENST00000344204.4	+	13	2325	c.2301G>T	c.(2299-2301)gcG>gcT	p.A767A	TRIO_ENST00000537187.1_Silent_p.A767A|TRIO_ENST00000509967.2_Silent_p.A718A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	767					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)					TGGACGAGGCGCAGTCGCAGA	0.597																																																	0								ENSG00000038382						82	74	77					5																	14359550		2203	4300	6503	TRIO	SO:0001819	synonymous_variant	0			-	HGNC	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.2301G>T	5.37:g.14359550G>T		Somatic	0	110	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	87	50.56	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A767	ENST00000344204.4	37	c.2301	CCDS3883.1	5																																																																																			-	smart_Spectrin/alpha-actinin		0.597	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	G	NM_007118	-		14359550	1	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	SNP	0.964	T	T	14359550	G	T	14359550	2	4	155	1	0	0	0	0	0	0	0	1	16559	1074	38	3		3	TRIO	5	14359550	Silent	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09		14359550	166555710	5	11190											
TCOF1	6949	genome.wustl.edu	37	chr5	149747446	149747446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcctcagtcctgggggCggacttgccatcaagcatga	11	13	2	1	rs200375016		TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr5:149747446C>T	ENST00000504761.2	+	4	344	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TCOF1_ENST00000445265.2_Missense_Mutation_p.A115V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A115V|TCOF1_ENST00000451292.1_Missense_Mutation_p.A115V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A115V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A115V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A115V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A115V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	115					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCTGGGGGCGGACTTGCCA	0.488													C|||	1	0.000199681	0	0.0014	5008	,	,		21486	0		0	False		,,,				2504	0																0								ENSG00000070814						84	84	84					5																	149747446		2203	4300	6503	TCOF1	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.344C>T	5.37:g.149747446C>T	ENSP00000421655:p.Ala115Val	Somatic	0	88	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP							pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A115V	ENST00000504761.2	37	c.344	CCDS54936.1	5	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.61	1.689577	0.29962	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346;ENST00000515516	T;T;T;T;T;D;T;T;T;D	0.85088	-1.09;-1.11;-1.08;-1.08;-1.09;-1.92;-1.09;-1.1;-1.1;-1.94	4.46	-3.38	0.04883	.	1.378430	0.05072	N	0.481824	T	0.74726	0.3754	L	0.44542	1.39	0.09310	N	1	P;B;P;B;B;B	0.35272	0.493;0.038;0.493;0.36;0.038;0.038	B;B;B;B;B;B	0.26094	0.066;0.008;0.066;0.03;0.008;0.008	T	0.61222	-0.7106	10	0.40728	T	0.16	0.7303	5.6899	0.17823	0.1425:0.2985:0.0:0.5589	.	115;115;115;115;115;115	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	V	115;115;115;115;115;115;115;115;115;103	ENSP00000400939:A115V;ENSP00000367028:A115V;ENSP00000409944:A115V;ENSP00000325223:A115V;ENSP00000406888:A115V;ENSP00000377811:A115V;ENSP00000390717:A115V;ENSP00000421655:A115V;ENSP00000427484:A115V;ENSP00000426471:A103V	ENSP00000325223:A115V	A	+	2	0	TCOF1	149727639	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.158000	0.03153	-0.745000	0.04772	-0.251000	0.11542	GCG	-	NULL		0.488	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	C	NM_001008656	rs200375016		149747446	1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	SNP	0.000	T	T	149747446	C	T	149747446	3	4	155	1	0	0	0	0	1	0	0	0	15715	768	27	1	358	1	TCOF1	5	149747446	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	135387896	149747446	31167814	6	11191											
NKX2-5	1482	genome.wustl.edu	37	chr5	172659906	172659908	+	In_Frame_Del	DEL	GGC	GGC	-													gcaccgcgatcctgcgggcaGgcggcggcggcggcgggggc					rs376340952		TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	GGC	GGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr5:172659906_172659908delGGC	ENST00000329198.4	-	2	912_914	c.639_641delGCC	c.(637-642)ccgcct>cct	p.213_214PP>P	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	213	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCGGGCAggcggcggcggcg	0.709																																					Esophageal Squamous(72;810 1219 2387 13420 44943)												0								ENSG00000183072		,,	68,3046		17,34,1506					,,	-7.4	0			7	131,6185		17,97,3044	no	coding,utr-3,utr-3	NKX2-5	NM_004387.3,NM_001166176.1,NM_001166175.1	,,	34,131,4550	A1A1,A1R,RR		2.0741,2.1837,2.1103	,,	,,		199,9231				NKX2-5	SO:0001651	inframe_deletion	0				HGNC	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.639_641delGCC	5.37:g.172659915_172659917delGGC	ENSP00000327758:p.Pro214del	Somatic	0	52	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K3K0|B4DNB6|E9PBU6	In_Frame_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P214in_frame_del	ENST00000329198.4	37	c.641_639	CCDS4387.1	5																																																																																			-	NULL		0.709	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	protein_coding	OTTHUMT00000252942.2	GGC				172659908	-1	no_errors	ENST00000329198	ensembl	human	known	74_37	in_frame_del	DEL	0.987:1.000:1.000	-	-	172659908	GGC	-	172659906	7	5	155	1	0	1	0	1	0	0	0	0	10455	1000	35	0	337	0	NKX2-5	5	172659906	In_Frame_Del	DEL	GGC	TCGA-IE-A6BZ-01A-11D-A307-09	22912460	172659906	8255354	7	11192											
FGD2	221472	genome.wustl.edu	37	chr6	36990132	36990132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccgtcgccaccactgcCgggcctgcggctatgtgagt	14	16	0	1			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr6:36990132C>T	ENST00000274963.8	+	13	1615	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	482					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCACCACTGCCGGGCCTGCGG	0.667																																																	0								ENSG00000146192						42	39	40					6																	36990132		2203	4299	6502	FGD2	SO:0001583	missense	0			-	HGNC	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1444C>T	6.37:g.36990132C>T	ENSP00000274963:p.Arg482Trp	Somatic	1	199	0.5		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	73	238	23.40	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP							pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R482W	ENST00000274963.8	37	c.1444	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682729	0.68157	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	D	0.81579	-1.51	4.59	2.67	0.31697	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33959	N	0.004384	D	0.90926	0.7148	H	0.97103	3.94	0.39881	D	0.973648	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93118	0.6522	10	0.87932	D	0	-15.4771	12.7324	0.57204	0.2986:0.7014:0.0:0.0	.	482;59	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	W	482;110	ENSP00000274963:R482W	ENSP00000274963:R482W	R	+	1	2	FGD2	37098110	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.627000	0.37050	0.887000	0.36136	0.313000	0.20887	CGG	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.667	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	protein_coding	OTTHUMT00000040398.2	C	NM_173558	-		36990132	1	no_errors	ENST00000274963	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36990132	C	T	36990132	3	4	155	1	0	0	0	0	1	0	0	0	5835	643	23	1	1494	1	FGD2	6	36990132	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09		36990132	134124935	8	11193											
TMEM63B	55362	genome.wustl.edu	37	chr6	44122120	44122120	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agattgagcacacggagacaGatactgtggaccccagaagc	12	10	0	5			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr6:44122120G>A	ENST00000259746.9	+	23	2428	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	TMEM63B_ENST00000323267.6_Missense_Mutation_p.D749N			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	749					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CACGGAGACAGATACTGTGGA	0.617																																																	0								ENSG00000137216						103	106	105					6																	44122120		2203	4300	6503	TMEM63B	SO:0001583	missense	0			-	HGNC	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2245G>A	6.37:g.44122120G>A	ENSP00000259746:p.Asp749Asn	Somatic	0	41	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	92	17.12	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP							pfam_DUF221	p.D749N	ENST00000259746.9	37	c.2245	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707198	0.48412	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.46451	0.87;0.87	4.99	4.99	0.66335	.	0.528287	0.16558	N	0.209156	T	0.22399	0.0540	L	0.42245	1.32	0.28662	N	0.906079	P	0.44195	0.828	B	0.36959	0.237	T	0.14062	-1.0486	10	0.72032	D	0.01	.	15.4833	0.75545	0.0:0.0:1.0:0.0	.	749	Q5T3F8	TM63B_HUMAN	N	749	ENSP00000259746:D749N;ENSP00000327154:D749N	ENSP00000259746:D749N	D	+	1	0	TMEM63B	44230098	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	5.375000	0.66173	2.345000	0.79718	0.555000	0.69702	GAT	-	NULL		0.617	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	protein_coding	OTTHUMT00000040712.2	G	XM_166410	-		44122120	1	no_errors	ENST00000259746	ensembl	human	known	74_37	missense	SNP	0.908	A	A	44122120	G	A	44122120	3	1	155	1	0	0	0	0	1	0	0	0	16198	942	33	2	2331	2	TMEM63B	6	44122120	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	7131988	44122120	126992947	9	11194											
MEP1A	4224	genome.wustl.edu	37	chr6	46766860	46766860	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaaatccagaaatggcctGagagacccaaacaccaggtg	10	11	0	4			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr6:46766860G>A	ENST00000230588.4	+	5	213	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	68	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GAAATGGCCTGAGAGACCCAA	0.428																																																	0								ENSG00000112818						153	144	147					6																	46766860		2203	4300	6503	MEP1A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.204G>A	6.37:g.46766860G>A		Somatic	0	158	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	262	19.14	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP							pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.L68	ENST00000230588.4	37	c.204	CCDS4918.1	6																																																																																			-	pirsf_Pept_M12A_Meprin		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	protein_coding	OTTHUMT00000040803.1	G	NM_005588	-		46766860	1	no_errors	ENST00000230588	ensembl	human	known	74_37	silent	SNP	0.974	A	A	46766860	G	A	46766860	2	1	155	1	0	0	0	0	0	0	0	1	9477	1277	45	2		2	MEP1A	6	46766860	Silent	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	2644740	46766860	124348207	10	11195											
MRPL15	29088	genome.wustl.edu	37	chr8	55047874	55047874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagggcggtggggccCgggccctggacctactccgg	17	15	0	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr8:55047874C>T	ENST00000260102.4	+	1	105	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	11					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CGGTGGGGCCCGGGCCCTGGA	0.672																																																	0								ENSG00000137547						10	12	11					8																	55047874		2045	3951	5996	MRPL15	SO:0001583	missense	0			-	HGNC	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.31C>T	8.37:g.55047874C>T	ENSP00000260102:p.Arg11Trp	Somatic	0	441	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	169	197	46.17	Q96Q54|Q9H0Y1	Missense_Mutation	SNP							pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.R11W	ENST00000260102.4	37	c.31	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908869	0.72868	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.45	-10.9	0.00192	.	0.623384	0.17195	N	0.183345	T	0.23171	0.0560	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	9	0.66056	D	0.02	0.3999	7.8277	0.29324	0.1213:0.4603:0.2964:0.1219	.	11	Q9P015	RM15_HUMAN	W	11	.	ENSP00000260102:R11W	R	+	1	2	MRPL15	55210427	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-4.090000	0.00297	-4.590000	0.00041	-0.271000	0.10264	CGG	-	NULL		0.672	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	protein_coding	OTTHUMT00000378254.1	C	NM_014175	-		55047874	1	no_errors	ENST00000260102	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55047874	C	T	55047874	3	4	155	1	0	0	0	0	1	0	0	0	9782	643	23	1	33	1	MRPL15	8	55047874	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09		55047874	91316148	11	11196											
TRHR	7201	genome.wustl.edu	37	chr8	110099856	110099856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcattatttgtggcctgGgcattgtaggcaacatcatg	10	8	2	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr8:110099856G>A	ENST00000518632.1	+	2	466	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	TRHR_ENST00000311762.2_Missense_Mutation_p.G39S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	39					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTGTGGCCTGGGCATTGTAGG	0.502																																																	0								ENSG00000174417						139	121	127					8																	110099856		2203	4300	6503	TRHR	SO:0001583	missense	0			-	HGNC		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.115G>A	8.37:g.110099856G>A	ENSP00000430711:p.Gly39Ser	Somatic	0	158	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	63	49.60	Q2M339	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn	p.G39S	ENST00000518632.1	37	c.115	CCDS6311.1	8	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829029	0.90955	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.48836	0.8;0.8	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73745	-0.3886	10	0.72032	D	0.01	-38.1771	18.8271	0.92123	0.0:0.0:1.0:0.0	.	39	P34981	TRFR_HUMAN	S	39	ENSP00000430711:G39S;ENSP00000309818:G39S	ENSP00000309818:G39S	G	+	1	0	TRHR	110169032	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.860000	0.99555	2.703000	0.92315	0.655000	0.94253	GGC	-	pfam_7TM_GPCR_olfarory/Srsx,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn		0.502	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	TRHR	protein_coding	OTTHUMT00000380892.1	G		-		110099856	1	no_errors	ENST00000311762	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110099856	G	A	110099856	3	1	155	1	0	0	0	0	1	0	0	0	16487	1232	43	2	117	2	TRHR	8	110099856	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	55051982	110099856	36264166	12	11197											
SMARCA2	6595	genome.wustl.edu	37	chr9	2161707	2161707	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatcgaagacggcaatttgGaggaaatggaagaggaagta	14	5	0	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr9:2161707G>T	ENST00000382203.1	+	28	4212	c.4003G>T	c.(4003-4005)Gag>Tag	p.E1335*	SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.E41*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.E1335*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.E1335*|SMARCA2_ENST00000382185.1_5'UTR|SMARCA2_ENST00000382186.1_5'UTR|RNU2-25P_ENST00000411041.1_RNA|SMARCA2_ENST00000324954.5_5'UTR|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.E1335*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1335					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)		CGGCAATTTGGAGGAAATGGA	0.368																																																	0								ENSG00000080503						71	70	70					9																	2161707		2203	4300	6503	SMARCA2	SO:0001587	stop_gained	0			-	HGNC	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.4003G>T	9.37:g.2161707G>T	ENSP00000371638:p.Glu1335*	Somatic	1	178	0.56		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	188	26.85	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E1335*	ENST00000382203.1	37	c.4003	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	47	13.506735	0.99746	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000302401;ENST00000423555;ENST00000417599	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-20.4405	18.59	0.91206	0.0:0.0:1.0:0.0	.	.	.	.	X	1335;1335;1335;1335;41;39;39	.	ENSP00000305411:E41X	E	+	1	0	SMARCA2	2151707	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.573000	0.98181	2.386000	0.81285	0.585000	0.79938	GAG	-	superfamily_RNaseH-like_dom		0.368	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	G	NM_003070	-		2161707	1	no_errors	ENST00000349721	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	2161707	G	T	2161707	4	4	155	1	0	0	0	0	0	1	0	0	14777	1175	41	3	4109	3	SMARCA2	9	2161707	Nonsense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09		2161707	139051724	13	11198											
ROR2	4920	genome.wustl.edu	37	chr9	94499672	94499672	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggtctgcagctcctaCctgtgattcggttttcaatc	9	10	2	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr9:94499672C>T	ENST00000375708.3	-	5	821		c.e5+1		ROR2_ENST00000375715.1_Splice_Site|ROR2_ENST00000550066.1_Splice_Site	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCAGCTCCTACCTGTGATTCG	0.522																																																	0								ENSG00000169071						148	115	126					9																	94499672		2203	4300	6503	ROR2	SO:0001630	splice_region_variant	0			-	HGNC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.622+1G>A	9.37:g.94499672C>T		Somatic	0	106	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	83	35.16	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Splice_Site	SNP							-	e5+1	ENST00000375708.3	37	c.622+1	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024902	0.54683	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROR2	93539493	1.000000	0.71417	0.938000	0.37757	0.376000	0.30014	7.518000	0.81795	2.431000	0.82371	0.655000	0.94253	.	-	-		0.522	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	protein_coding	OTTHUMT00000053040.1	C		-	Intron	94499672	-1	no_errors	ENST00000375708	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	94499672	C	T	94499672	5	4	155	1	0	0	0	0	0	0	1	0	13535	521	18	2	2228	2	ROR2	9	94499672	Splice_Site	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	92337965	94499672	46713759	14	11199											
FAM22F	54754	genome.wustl.edu	37	chr9	97087709	97087709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccttgtggccatggcctaGcgttccctggggacacgatg	13	14	0	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr9:97087709G>C	ENST00000253262.4	-	2	544	c.524C>G	c.(523-525)gCt>gGt	p.A175G	NUTM2F_ENST00000335456.7_Missense_Mutation_p.A175G|NUTM2F_ENST00000341207.4_Missense_Mutation_p.A175G	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	175																	CCATGGCCTAGCGTTCCCTGG	0.677																																																	0								ENSG00000130950						10	24	22					9																	97087709		437	2286	2723	NUTM2F	SO:0001583	missense	0			-	HGNC		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.524C>G	9.37:g.97087709G>C	ENSP00000253262:p.Ala175Gly	Somatic	0	565	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	588	8.39	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP							NULL	p.A175G	ENST00000253262.4	37	c.524	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	.	9.495	1.101699	0.20632	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207;ENST00000375347	T;T;T	0.26660	1.72;1.72;1.72	1.52	0.437	0.16555	Nuclear Testis  protein, N-terminal (1);	1.669960	0.03214	N	0.176582	T	0.37046	0.0989	M	0.65975	2.015	0.09310	N	1	P	0.45634	0.863	P	0.49140	0.601	T	0.20773	-1.0265	10	0.66056	D	0.02	.	5.2955	0.15751	0.0:0.3687:0.6313:0.0	.	175	A1L443	FA22F_HUMAN	G	175	ENSP00000335067:A175G;ENSP00000253262:A175G;ENSP00000343865:A175G	ENSP00000253262:A175G	A	-	2	0	FAM22F	96127530	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.594000	0.24014	0.160000	0.19432	0.456000	0.33151	GCT	-	NULL		0.677	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2F	protein_coding	OTTHUMT00000053173.2	G	NM_017561	-		97087709	-1	no_errors	ENST00000253262	ensembl	human	known	74_37	missense	SNP	0.000	C	C	97087709	G	C	97087709	3	2	155	1	0	0	0	0	1	0	0	0	5547	971	34	4	1770	4	FAM22F	9	97087709	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	2588037	97087709	44125722	15	11200											
PAPPA	5069	genome.wustl.edu	37	chr9	118949745	118949745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgctcatgttagggggcaGtgccctgaatcacaactacc	11	11	2	1			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr9:118949745G>T	ENST00000328252.3	+	2	1097	c.728G>T	c.(727-729)aGt>aTt	p.S243I	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	243					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTAGGGGGCAGTGCCCTGAAT	0.562																																																	0								ENSG00000182752						83	81	82					9																	118949745		2203	4300	6503	PAPPA	SO:0001583	missense	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.728G>T	9.37:g.118949745G>T	ENSP00000330658:p.Ser243Ile	Somatic	0	76	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	23	60.34	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S243I	ENST00000328252.3	37	c.728	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569040	0.65765	.	.	ENSG00000182752	ENST00000328252	T	0.75589	-0.95	6.07	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.038408	0.85682	D	0.000000	T	0.64681	0.2620	N	0.19112	0.55	0.80722	D	1	P	0.48016	0.904	P	0.51266	0.664	T	0.66646	-0.5871	10	0.72032	D	0.01	-19.9069	4.4663	0.11691	0.4147:0.0:0.5853:0.0	.	243	Q13219	PAPP1_HUMAN	I	243	ENSP00000330658:S243I	ENSP00000330658:S243I	S	+	2	0	PAPPA	117989566	1.000000	0.71417	0.914000	0.36105	0.948000	0.59901	5.463000	0.66712	1.584000	0.49913	-0.137000	0.14449	AGT	-	superfamily_ConA-like_lec_gl_sf,smart_LamG-like		0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	G	NM_002581	-		118949745	1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118949745	G	T	118949745	3	4	155	1	0	0	0	0	1	0	0	0	11434	1029	36	3	734	3	PAPPA	9	118949745	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	21862036	118949745	22263686	16	11201											
CSTF2T	23283	genome.wustl.edu	37	chr10	53457702	53457702	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atacctcctccttgtatactGactccttgtatgcctgcccc	5	16	0	1	rs148098627		TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr10:53457702G>A	ENST00000331173.4	-	1	1653	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	536	9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				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)		cttgtatactgactccttgta	0.552																																																	0								ENSG00000177613						142	103	117					10																	53457702		2203	4300	6503	CSTF2T	SO:0001819	synonymous_variant	0			-	HGNC	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.1608C>T	10.37:g.53457702G>A		Somatic	0	175	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	210	21.05	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V536	ENST00000331173.4	37	c.1608	CCDS7245.1	10																																																																																			-	NULL		0.552	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	protein_coding	OTTHUMT00000048097.1	G	NM_015235	-		53457702	-1	no_errors	ENST00000331173	ensembl	human	known	74_37	silent	SNP	0.676	A	A	53457702	G	A	53457702	2	1	155	1	0	0	0	0	0	0	0	1	3987	1277	45	2		2	CSTF2T	10	53457702	Silent	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09		53457702	82077045	17	11202											
DMBT1	1755	genome.wustl.edu	37	chr10	124358313	124358313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatccagtttggccctgAggctggtgaatggaggtgac	15	8	0	4			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr10:124358313A>T	ENST00000338354.3	+	26	3086	c.2980A>T	c.(2980-2982)Agg>Tgg	p.R994W	DMBT1_ENST00000344338.3_Missense_Mutation_p.R984W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R984W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R495W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R495W|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R994W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	994	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTGGCCCTGAGGCTGGTGAA	0.542																																					Ovarian(182;93 2026 18125 22222 38972)												0								ENSG00000187908						324	313	316					10																	124358313		1955	4159	6114	DMBT1	SO:0001583	missense	0			-	HGNC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2980A>T	10.37:g.124358313A>T	ENSP00000342210:p.Arg994Trp	Somatic	0	623	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	245	270	47.39	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP							pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.R994W	ENST00000338354.3	37	c.2980		10	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963671	0.74016	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	3.74	1.14	0.20703	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.80210	0.4581	H	0.99156	4.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.982;0.994;0.981;0.958	T	0.77534	-0.2552	9	0.72032	D	0.01	.	6.804	0.23766	0.4047:0.4488:0.0:0.1465	.	994;495;984;994	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	W	994;994;994;994;994;994;495;984;495;495;994;984;495	ENSP00000342210:R994W;ENSP00000343175:R984W;ENSP00000327747:R495W;ENSP00000357905:R994W;ENSP00000357951:R984W;ENSP00000357952:R495W	ENSP00000331522:R495W	R	+	1	2	DMBT1	124348303	0.991000	0.36638	0.663000	0.29738	0.560000	0.35617	3.100000	0.50275	-0.000000	0.14550	0.456000	0.33151	AGG	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	A	NM_004406	-		124358313	1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	SNP	0.964	T	T	124358313	A	T	124358313	3	4	155	1	0	0	0	0	1	0	0	0	4579	295	11	5	3082	5	DMBT1	10	124358313	Missense_Mutation	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09	70900611	124358313	11176434	18	11203											
KIAA0528	9847	genome.wustl.edu	37	chr12	22697034	22697034	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtcactagcacggtccatCactggcaaatggcgcccggc	12	14	2	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr12:22697034C>T	ENST00000333957.4	-	2	306	c.51G>A	c.(49-51)gtG>gtA	p.V17V	C2CD5_ENST00000542676.1_Silent_p.V17V|C2CD5_ENST00000446597.1_Silent_p.V17V|C2CD5_ENST00000545552.1_Silent_p.V17V|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Silent_p.V17V|C2CD5_ENST00000396028.2_Silent_p.V17V	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	17	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										CACGGTCCATCACTGGCAAAT	0.577																																																	0								ENSG00000111731						175	130	145					12																	22697034		2203	4300	6503	C2CD5	SO:0001819	synonymous_variant	0			-	HGNC	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.51G>A	12.37:g.22697034C>T		Somatic	0	103	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	36	63.27	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.V17	ENST00000333957.4	37	c.51	CCDS31758.1	12																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.577	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	protein_coding	OTTHUMT00000402257.1	C	NM_014802	-		22697034	-1	no_errors	ENST00000333957	ensembl	human	known	74_37	silent	SNP	1.000	T	T	22697034	C	T	22697034	2	4	155	1	0	0	0	0	0	0	0	1	8184	813	29	2		2	KIAA0528	12	22697034	Silent	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09		22697034	111154861	19	11204			1	83		2	2	37	C		4.767828e-05
KIAA0528	9847	genome.wustl.edu	37	chr12	22697070	22697070	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggccacgattttcaccttCagcttccctggcatggtctc	8	16	3	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr12:22697070C>T	ENST00000333957.4	-	2	270	c.15G>A	c.(13-15)ctG>ctA	p.L5L	C2CD5_ENST00000542676.1_Silent_p.L5L|C2CD5_ENST00000446597.1_Silent_p.L5L|C2CD5_ENST00000545552.1_Silent_p.L5L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Silent_p.L5L|C2CD5_ENST00000396028.2_Silent_p.L5L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	5	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTTCACCTTCAGCTTCCCTG	0.627																																																	0								ENSG00000111731						157	120	133					12																	22697070		2203	4300	6503	C2CD5	SO:0001819	synonymous_variant	0			-	HGNC	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.15G>A	12.37:g.22697070C>T		Somatic	0	94	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	40	60.40	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L5	ENST00000333957.4	37	c.15	CCDS31758.1	12																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.627	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	protein_coding	OTTHUMT00000402257.1	C	NM_014802	-		22697070	-1	no_errors	ENST00000333957	ensembl	human	known	74_37	silent	SNP	1.000	T	T	22697070	C	T	22697070	2	4	155	1	0	0	0	0	0	0	0	1	8184	813	29	2		2	KIAA0528	12	22697070	Silent	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	36	22697070	111154825	20	11205			1	83		2	2	37	C		4.767828e-05
LMO7	4008	genome.wustl.edu	37	chr13	76395653	76395653	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctccccagaagttaccggAaaactgatacagtcaggtta	8	11	2	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr13:76395653A>T	ENST00000321797.8	+	12	2570	c.1849A>T	c.(1849-1851)Aaa>Taa	p.K617*	LMO7_ENST00000526202.1_Nonsense_Mutation_p.K467*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.K902*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.K902*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.K568*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.K617*			Q8WWI1	LMO7_HUMAN	LIM domain 7	902					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGTTACCGGAAAACTGATAC	0.473																																																	0								ENSG00000136153						75	73	74					13																	76395653		2203	4300	6503	LMO7	SO:0001587	stop_gained	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1849A>T	13.37:g.76395653A>T	ENSP00000317802:p.Lys617*	Somatic	0	95	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	8	77.14	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP							pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.K902*	ENST00000321797.8	37	c.2704		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	50|50	16.827111|16.827111	0.99873|0.99873	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.350346	.|0.37012	.|N	.|0.002291	T|.	0.38852|.	0.1056|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34675|.	-0.9819|.	3|.	.|0.02654	.|T	.|1	-13.6847|-13.6847	16.3364|16.3364	0.83064|0.83064	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	525|568;902;902;516;617;467;617	.|.	.|ENSP00000317802:K617X	E|K	+|+	2|1	0|0	LMO7|LMO7	75293654|75293654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.016000|8.016000	0.88706|0.88706	2.252000|2.252000	0.74401|0.74401	0.528000|0.528000	0.53228|0.53228	GAA|AAA	-	NULL		0.473	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	A	NM_005358	-		76395653	1	no_errors	ENST00000357063	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	76395653	A	T	76395653	4	4	155	1	0	0	0	0	0	1	0	0	8857	247	9	5	2762	5	LMO7	13	76395653	Nonsense_Mutation	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09		76395653	38774225	21	11206											
COL4A2	1284	genome.wustl.edu	37	chr13	111080930	111080930	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggttcaccgggcctccCgtgagtatccccacagcgcc	13	16	1	1	rs534031166		TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr13:111080930C>T	ENST00000360467.5	+	7	783	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	159					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCGGGCCTCCCGTGAGTATCC	0.682													C|||	1	0.000199681	0	0.0014	5008	,	,		14873	0		0	False		,,,				2504	0																0								ENSG00000134871						22	28	26					13																	111080930		1879	4093	5972	COL4A2	SO:0001630	splice_region_variant	0			-	HGNC	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.477+1C>T	13.37:g.111080930C>T		Somatic	0	144	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	128	31.18	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P159	ENST00000360467.5	37	c.477	CCDS41907.1	13																																																																																			-	pfam_Collagen		0.682	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	C	NM_001846	-	Silent	111080930	1	no_errors	ENST00000360467	ensembl	human	known	74_37	silent	SNP	0.034	T	T	111080930	C	T	111080930	5	4	155	1	0	0	0	0	0	0	1	0	3692	666	23	1	499	1	COL4A2	13	111080930	Splice_Site	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	34685277	111080930	4088948	22	11207											
TRAPPC6B	122553	genome.wustl.edu	37	chr14	39627487	39627487	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccttaattaatttaattAcctgatgatttgtccttaga	6	6	0	3			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr14:39627487A>G	ENST00000330149.5	-	3	494		c.e3+1		TRAPPC6B_ENST00000347691.5_Splice_Site|TRAPPC6B_ENST00000557764.1_Intron	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TAATTTAATTACCTGATGATT	0.269																																																	0								ENSG00000182400						78	75	76					14																	39627487		2198	4294	6492	TRAPPC6B	SO:0001630	splice_region_variant	0			-	HGNC	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"Trafficking protein particle complex"	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.267+1T>C	14.37:g.39627487A>G		Somatic	0	166	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	138	23.76	B3KPS2|Q5JPD6|Q86U35|Q86X35	Splice_Site	SNP							-	e3+2	ENST00000330149.5	37	c.267+2	CCDS41947.1	14	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182524	0.57800	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5435	0.76074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC6B	38697238	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	8.187000	0.89708	2.130000	0.65690	0.533000	0.62120	.	-	-		0.269	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	TRAPPC6B	protein_coding	OTTHUMT00000276775.1	A	NM_177452	-	Intron	39627487	-1	no_errors	ENST00000347691	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	39627487	A	G	39627487	5	3	155	1	0	0	0	0	0	0	1	0	16471	405	14	5	223	5	TRAPPC6B	14	39627487	Splice_Site	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09		39627487	67722053	23	11208											
RTN1	6252	genome.wustl.edu	37	chr14	60193761	60193761	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttccgtggcaacatgggCgtctcaggctccagggctcc	14	14	1	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr14:60193761C>A	ENST00000267484.5	-	3	1976	c.1641G>T	c.(1639-1641)acG>acT	p.T547T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	547					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAACATGGGCGTCTCAGGCT	0.687																																																	0								ENSG00000139970						23	27	25					14																	60193761		2203	4300	6503	RTN1	SO:0001819	synonymous_variant	0			-	HGNC	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1641G>T	14.37:g.60193761C>A		Somatic	0	131	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	96	29.93	Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP							pfam_Reticulon,pfscan_Reticulon	p.T547	ENST00000267484.5	37	c.1641	CCDS9740.1	14																																																																																			-	NULL		0.687	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	protein_coding	OTTHUMT00000072278.2	C		-		60193761	-1	no_errors	ENST00000267484	ensembl	human	known	74_37	silent	SNP	0.000	A	A	60193761	C	A	60193761	2	1	155	1	0	0	0	0	0	0	0	1	13733	755	27	3		3	RTN1	14	60193761	Silent	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	20566274	60193761	47155779	24	11209											
CYP46A1	10858	genome.wustl.edu	37	chr14	100173109	100173109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctacaccgccatggAcatcctggccaaggtgatgg	12	13	0	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr14:100173109A>G	ENST00000261835.3	+	6	673	c.569A>G	c.(568-570)gAc>gGc	p.D190G	CYP46A1_ENST00000423126.2_Missense_Mutation_p.D93G|CYP46A1_ENST00000554176.1_Missense_Mutation_p.D37G	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	190					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ACCGCCATGGACATCCTGGCC	0.597																																																	0								ENSG00000036530						67	57	61					14																	100173109		2203	4300	6503	CYP46A1	SO:0001583	missense	0			-	HGNC	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.569A>G	14.37:g.100173109A>G	ENSP00000261835:p.Asp190Gly	Somatic	0	47	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	18	69.49	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.D190G	ENST00000261835.3	37	c.569	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656969	0.67586	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176	T;D;D	0.82711	-0.62;-1.64;-1.64	4.17	4.17	0.49024	.	0.049211	0.85682	D	0.000000	D	0.88295	0.6398	M	0.63843	1.955	0.51482	D	0.999924	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	D	0.88829	0.3304	10	0.87932	D	0	.	10.2072	0.43120	1.0:0.0:0.0:0.0	.	37;190;161	Q8N2B0;Q9Y6A2;Q59ER2	.;CP46A_HUMAN;.	G	190;93;37	ENSP00000261835:D190G;ENSP00000405779:D93G;ENSP00000450553:D37G	ENSP00000261835:D190G	D	+	2	0	CYP46A1	99242862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.252000	0.51461	1.830000	0.53286	0.528000	0.53228	GAC	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.597	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	protein_coding	OTTHUMT00000413814.1	A		-		100173109	1	no_errors	ENST00000261835	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100173109	A	G	100173109	3	3	155	1	0	0	0	0	1	0	0	0	4184	275	10	5	591	5	CYP46A1	14	100173109	Missense_Mutation	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09	39979348	100173109	7176431	25	11210											
FBN1	2200	genome.wustl.edu	37	chr15	48752489	48752489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacaaagcctggcctttgActtccacagagtgtagcaaa	9	10	0	3			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr15:48752489A>C	ENST00000316623.5	-	43	5705	c.5250T>G	c.(5248-5250)agT>agG	p.S1750R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1750			S -> R (in ACMICD). {ECO:0000269|PubMed:21683322}.		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)		CTGGCCTTTGACTTCCACAGA	0.418																																																	0								ENSG00000166147						86	77	80					15																	48752489		2198	4296	6494	FBN1	SO:0001583	missense	0			-	HGNC	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.5250T>G	15.37:g.48752489A>C	ENSP00000325527:p.Ser1750Arg	Somatic	0	36	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.S1750R	ENST00000316623.5	37	c.5250	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215358	0.58452	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.92348	-3.02	6.16	-1.83	0.07833	Matrix fibril-associated (2);	0.000000	0.85682	D	0.000000	D	0.91583	0.7341	L	0.38692	1.165	0.80722	D	1	D	0.59357	0.985	D	0.68483	0.958	D	0.88072	0.2801	10	0.39692	T	0.17	.	11.915	0.52761	0.5734:0.0:0.4266:0.0	.	1750	P35555	FBN1_HUMAN	R	1750;318;640	ENSP00000325527:S1750R	ENSP00000325527:S1750R	S	-	3	2	FBN1	46539781	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	1.535000	0.36061	-0.079000	0.12707	-0.417000	0.06048	AGT	-	superfamily_TB_dom,pirsf_FBN		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	A		-		48752489	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	SNP	0.992	C	C	48752489	A	C	48752489	3	2	155	1	0	0	0	0	1	0	0	0	5704	272	10	5	3461	5	FBN1	15	48752489	Missense_Mutation	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09		48752489	53778903	26	11211											
NGRN	51335	genome.wustl.edu	37	chr15	90814896	90814896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggaactggcagtggtgCgttgccaagtggtcagaagc	16	8	1	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr15:90814896C>T	ENST00000379095.3	+	3	760	c.752C>T	c.(751-753)gCg>gTg	p.A251V	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	251					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGCAGTGGTGCGTTGCCAAGT	0.547																																																	0								ENSG00000182768						45	41	43					15																	90814896		2199	4298	6497	NGRN	SO:0001583	missense	0			-	HGNC	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.752C>T	15.37:g.90814896C>T	ENSP00000368389:p.Ala251Val	Somatic	0	158	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	117	69	62.90	B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP							pfam_Neugrin-related	p.A251V	ENST00000379095.3	37	c.752	CCDS32329.1	15	.	.	.	.	.	.	.	.	.	.	C	7.564	0.665362	0.14710	.	.	ENSG00000182768	ENST00000379095	T	0.29917	1.55	4.73	-0.802	0.10889	.	1.300320	0.05636	U	0.582555	T	0.10637	0.0260	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19128	-1.0315	10	0.29301	T	0.29	.	0.8411	0.01150	0.1808:0.2816:0.2593:0.2783	.	251	Q9NPE2	NGRN_HUMAN	V	251	ENSP00000368389:A251V	ENSP00000368389:A251V	A	+	2	0	NGRN	88615900	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.889000	0.04144	-0.220000	0.09988	-1.310000	0.01310	GCG	-	pfam_Neugrin-related		0.547	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	protein_coding	OTTHUMT00000313418.1	C		-		90814896	1	no_errors	ENST00000379095	ensembl	human	known	74_37	missense	SNP	0.000	T	T	90814896	C	T	90814896	3	4	155	1	0	0	0	0	1	0	0	0	10401	768	27	1	762	1	NGRN	15	90814896	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	42062407	90814896	11716496	27	11212											
SCNN1G	6340	genome.wustl.edu	37	chr16	23197641	23197641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcaagaagaatctgcccGtgacgggccctcaggcgccg	12	13	3	3			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr16:23197641G>A	ENST00000300061.2	+	2	192	c.49G>A	c.(49-51)Gtg>Atg	p.V17M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	17					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAATCTGCCCGTGACGGGCCC	0.617																																																	0								ENSG00000166828						53	56	55					16																	23197641		2197	4300	6497	SCNN1G	SO:0001583	missense	0			-	HGNC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.49G>A	16.37:g.23197641G>A	ENSP00000300061:p.Val17Met	Somatic	0	72	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	5	89.58	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.V17M	ENST00000300061.2	37	c.49	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	9.968	1.224700	0.22457	.	.	ENSG00000166828	ENST00000300061	T	0.71817	-0.6	5.25	5.25	0.73442	.	0.483686	0.20177	N	0.097602	T	0.49372	0.1553	N	0.08118	0	0.26844	N	0.968302	D	0.59357	0.985	B	0.35655	0.207	T	0.53201	-0.8472	10	0.48119	T	0.1	-32.9152	17.4127	0.87491	0.0:0.0:1.0:0.0	.	17	P51170	SCNNG_HUMAN	M	17	ENSP00000300061:V17M	ENSP00000300061:V17M	V	+	1	0	SCNN1G	23105142	0.993000	0.37304	0.067000	0.19924	0.057000	0.15508	2.224000	0.42945	2.435000	0.82474	0.561000	0.74099	GTG	-	NULL		0.617	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	protein_coding	OTTHUMT00000254496.1	G	NM_001039	-		23197641	1	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	SNP	0.446	A	A	23197641	G	A	23197641	3	1	155	1	0	0	0	0	1	0	0	0	13938	1145	40	1	51	1	SCNN1G	16	23197641	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09		23197641	67157112	28	11213											
MYH2	4620	genome.wustl.edu	37	chr17	10426842	10426842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctggatctgcttctTcccacccttcagggccagct	8	15	4	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr17:10426842T>C	ENST00000245503.5	-	37	5827	c.5443A>G	c.(5443-5445)Aag>Gag	p.K1815E	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1815E|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1815					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTGCTTCTTCCCACCCTTC	0.537																																																	0								ENSG00000125414						97	102	100					17																	10426842		2203	4300	6503	MYH2	SO:0001583	missense	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5443A>G	17.37:g.10426842T>C	ENSP00000245503:p.Lys1815Glu	Somatic	0	188	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	272	14.73	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1815E	ENST00000245503.5	37	c.5443	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469456	0.84533	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.71461	-0.57;-0.57	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.41097	U	0.000942	D	0.89150	0.6633	H	0.96518	3.835	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.92488	0.5998	10	0.87932	D	0	.	15.7759	0.78214	0.0:0.0:0.0:1.0	.	1815	Q9UKX2	MYH2_HUMAN	E	1815	ENSP00000245503:K1815E;ENSP00000380367:K1815E	ENSP00000245503:K1815E	K	-	1	0	MYH2	10367567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	2.308000	0.77769	0.533000	0.62120	AAG	-	pfam_Myosin_tail		0.537	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	T	NM_017534	-		10426842	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10426842	T	C	10426842	3	2	155	1	0	0	0	0	1	0	0	0	10037	1792	62	5	398	5	MYH2	17	10426842	Missense_Mutation	SNP	T	TCGA-IE-A6BZ-01A-11D-A307-09		10426842	70768368	29	11214											
NUP85	79902	genome.wustl.edu	37	chr17	73228049	73228049	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtgctgcggatctgTgagcagcggcagatgactga	16	8	1	5			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr17:73228049T>A	ENST00000245544.4	+	14	1442	c.1371T>A	c.(1369-1371)tgT>tgA	p.C457*	NUP85_ENST00000579298.1_Nonsense_Mutation_p.C412*|NUP85_ENST00000541827.1_Nonsense_Mutation_p.C411*|NUP85_ENST00000579324.1_Nonsense_Mutation_p.C345*|NUP85_ENST00000447371.2_Nonsense_Mutation_p.C289*|NUP85_ENST00000540768.1_Nonsense_Mutation_p.C60*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	457					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGCGGATCTGTGAGCAGCGGC	0.592																																																	0								ENSG00000125450						45	43	44					17																	73228049		2203	4300	6503	NUP85	SO:0001587	stop_gained	0			-	HGNC	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1371T>A	17.37:g.73228049T>A	ENSP00000245544:p.Cys457*	Somatic	0	41	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	25	72.53	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Nonsense_Mutation	SNP							pfam_Nucleoporin_Nup85	p.C457*	ENST00000245544.4	37	c.1371	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579403	0.65878	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.23	-2.93	0.05598	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5484	11.5756	0.50860	0.0:0.4588:0.0:0.5411	.	.	.	.	X	457;411;289;60	.	ENSP00000245544:C457X	C	+	3	2	NUP85	70739644	0.998000	0.40836	0.910000	0.35882	0.994000	0.84299	0.382000	0.20635	-0.509000	0.06532	0.459000	0.35465	TGT	-	pfam_Nucleoporin_Nup85		0.592	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	protein_coding	OTTHUMT00000446619.1	T	NM_024844	-		73228049	1	no_errors	ENST00000245544	ensembl	human	known	74_37	nonsense	SNP	0.996	A	A	73228049	T	A	73228049	4	1	155	1	0	0	0	0	0	1	0	0	10772	1702	59	5	1425	5	NUP85	17	73228049	Nonsense_Mutation	SNP	T	TCGA-IE-A6BZ-01A-11D-A307-09	62801207	73228049	7967161	30	11215											
CBX8	57332	genome.wustl.edu	37	chr17	77769090	77769090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttccctctcacgttcccGctccctctctcgctccctct	4	22	3	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr17:77769090G>A	ENST00000269385.4	-	5	631	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	172					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			tcacgttcccgctccctctct	0.682																																																	0								ENSG00000141570						61	41	47					17																	77769090		2203	4300	6503	CBX8	SO:0001583	missense	0			-	HGNC	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.514C>T	17.37:g.77769090G>A	ENSP00000269385:p.Arg172Trp	Somatic	0	179	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	226	19.79	Q96H39|Q9NR07	Missense_Mutation	SNP							pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.R172W	ENST00000269385.4	37	c.514	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452756	0.43531	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.57752	0.64;0.38;0.64	2.92	-4.23	0.03789	.	1.786060	0.03020	N	0.150615	T	0.61578	0.2358	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.64321	0.924	T	0.63005	-0.6733	10	0.66056	D	0.02	-8.0783	13.7199	0.62720	0.0:0.0:0.1745:0.8255	.	172	Q9HC52	CBX8_HUMAN	W	172;147;162	ENSP00000269385:R172W;ENSP00000408753:R147W;ENSP00000405058:R162W	ENSP00000269385:R172W	R	-	1	2	CBX8	75383685	0.000000	0.05858	0.023000	0.16930	0.935000	0.57460	-1.134000	0.03228	-0.863000	0.04084	-0.521000	0.04368	CGG	-	NULL		0.682	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	protein_coding	OTTHUMT00000318011.1	G	NM_020649	-		77769090	-1	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	SNP	0.036	A	A	77769090	G	A	77769090	3	1	155	1	0	0	0	0	1	0	0	0	2726	1087	38	1	634	1	CBX8	17	77769090	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	4541041	77769090	3426120	31	11216											
ADNP2	22850	genome.wustl.edu	37	chr18	77896692	77896692	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttgaatatgaaccataAaacttgcaaaaaaaaaaaaa	3	5	0	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr18:77896692A>G	ENST00000262198.4	+	4	3851	c.3396A>G	c.(3394-3396)taA>taG	p.*1132*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	0					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGAACCATAAAACTTGCAAA	0.303																																																	0								ENSG00000101544						8	9	9					18																	77896692		1982	4129	6111	ADNP2	SO:0001819	synonymous_variant	0			-	HGNC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3396A>G	18.37:g.77896692A>G		Somatic	0	36	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	148	10.30	A8K951|O94943|Q9H9P3	Silent	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.*1132	ENST00000262198.4	37	c.3396	CCDS32853.1	18																																																																																			-	NULL		0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	A	NM_014913	-		77896692	1	no_errors	ENST00000262198	ensembl	human	known	74_37	silent	SNP	0.133	G	G	77896692	A	G	77896692	2	3	155	1	0	0	0	0	0	0	0	1	324	21	1	5		5	ADNP2	18	77896692	Silent	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09		77896692	180556	32	11217											
CEACAM21	90273	genome.wustl.edu	37	chr19	42085857	42085857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgaagaggatgaagctGtcctggtttaaccatatgct	11	8	1	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr19:42085857G>A	ENST00000401445.2	+	3	602	c.576G>A	c.(574-576)ctG>ctA	p.L192L	CEACAM21_ENST00000187608.9_Silent_p.L192L|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_Silent_p.L64L			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	192	Ig-like C2-type.					integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GGATGAAGCTGTCCTGGTTTA	0.542																																																	0								ENSG00000007129						51	51	51					19																	42085857		2055	4201	6256	CEACAM21	SO:0001819	synonymous_variant	0			-	HGNC	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.576G>A	19.37:g.42085857G>A		Somatic	0	59	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	83	40.29	B7WNQ6|O75296|Q6UY47|Q96ER7	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L192	ENST00000401445.2	37	c.576	CCDS46086.1	19																																																																																			-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	CEACAM21	protein_coding	OTTHUMT00000321140.1	G	NM_033543	-		42085857	1	no_errors	ENST00000401445	ensembl	human	known	74_37	silent	SNP	0.013	A	A	42085857	G	A	42085857	2	1	155	1	0	0	0	0	0	0	0	1	3194	1364	48	2		2	CEACAM21	19	42085857	Silent	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09		42085857	17043126	33	11218											
ZNF221	7638	genome.wustl.edu	37	chr19	44470547	44470547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcatgattcacagcttcAagaacatcagagaatccata	5	10	4	3			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr19:44470547A>G	ENST00000251269.5	+	6	1221	c.893A>G	c.(892-894)cAa>cGa	p.Q298R	ZNF221_ENST00000592350.1_Missense_Mutation_p.Q298R|ZNF221_ENST00000587682.1_Missense_Mutation_p.Q298R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TCACAGCTTCAAGAACATCAG	0.393																																																	0								ENSG00000159905						132	134	133					19																	44470547		2203	4300	6503	ZNF221	SO:0001583	missense	0			-	HGNC	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.893A>G	19.37:g.44470547A>G	ENSP00000251269:p.Gln298Arg	Somatic	0	182	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	145	131	52.54	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q298R	ENST00000251269.5	37	c.893	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	a	10.09	1.253879	0.22965	.	.	ENSG00000159905	ENST00000251269	T	0.11930	2.73	2.44	-0.073	0.13737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	N	0.05574	-0.02	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.39143	-0.9628	9	0.42905	T	0.14	.	0.1411	0.00083	0.3484:0.1894:0.1514:0.3107	.	298	Q9UK13	ZN221_HUMAN	R	298	ENSP00000251269:Q298R	ENSP00000251269:Q298R	Q	+	2	0	ZNF221	49162387	0.000000	0.05858	0.012000	0.15200	0.900000	0.52787	-2.019000	0.01442	0.191000	0.20236	0.379000	0.24179	CAA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	protein_coding	OTTHUMT00000460068.1	A		-		44470547	1	no_errors	ENST00000251269	ensembl	human	known	74_37	missense	SNP	0.000	G	G	44470547	A	G	44470547	3	3	155	1	0	0	0	0	1	0	0	0	17782	130	5	5	907	5	ZNF221	19	44470547	Missense_Mutation	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09	2384690	44470547	14658436	34	11219											
PEG3	5178	genome.wustl.edu	37	chr19	57328017	57328017	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctcacgttcacgttcaCgttcatgttcacgctcatta	7	14	6	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr19:57328017C>G	ENST00000326441.9	-	10	2156	c.1793G>C	c.(1792-1794)cGt>cCt	p.R598P	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598P|PEG3_ENST00000598410.1_Missense_Mutation_p.R474P|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472P	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458																																																	2	Substitution - Missense(2)	ovary(2)						ENSG00000198300						106	83	91					19																	57328017		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1793G>C	19.37:g.57328017C>G	ENSP00000326581:p.Arg598Pro	Somatic	0	103	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	178	8.25	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R598P	ENST00000326441.9	37	c.1793	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.424393	0.01126	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.06462	0.0166	L	0.50333	1.59	.	.	.	P;B;D	0.71674	0.909;0.006;0.998	B;B;P	0.61201	0.113;0.007;0.885	T	0.31364	-0.9946	8	0.45353	T	0.12	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	P	598	ENSP00000326581:R598P;ENSP00000403051:R598P	ENSP00000326581:R598P	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT	-	NULL		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57328017	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	0.011	G	G	57328017	C	G	57328017	3	3	155	1	0	0	0	0	1	0	0	0	11722	536	19	4	2977	4	PEG3	19	57328017	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	12857470	57328017	1800966	35	11220											
CHD6	84181	genome.wustl.edu	37	chr20	40044280	40044280	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctaagaagctctccTgtgaacacacaaacagcaag	9	11	1	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr20:40044280T>C	ENST00000373233.3	-	34	6664		c.e34-2		CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAGCTCTCCTGTGAACACAC	0.498																																																	0								ENSG00000124177						30	31	31					20																	40044280		2041	4081	6122	CHD6	SO:0001630	splice_region_variant	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6487-2A>G	20.37:g.40044280T>C		Somatic	0	33	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP							-	e33-2	ENST00000373233.3	37	c.6487-2	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825550	0.71143	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2285	0.82315	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39477694	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.926000	0.70070	2.235000	0.73313	0.460000	0.39030	.	-	-		0.498	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	T		-	Intron	40044280	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	40044280	T	C	40044280	5	2	155	1	0	0	0	0	0	0	1	0	3331	1594	55	5	1678	5	CHD6	20	40044280	Splice_Site	SNP	T	TCGA-IE-A6BZ-01A-11D-A307-09		40044280	22981240	36	11221											
GTPBP1	9567	genome.wustl.edu	37	chr22	39101991	39101991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcgcagtcgctccgcgatgGactcgccggtcccggcctct	13	17	1	0			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chr22:39101991G>T	ENST00000216044.5	+	1	264	c.31G>T	c.(31-33)Gac>Tac	p.D11Y		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	11					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CTCCGCGATGGACTCGCCGGT	0.662																																																	0								ENSG00000100226						2	2	2					22																	39101991		1608	3325	4933	GTPBP1	SO:0001583	missense	0			-	HGNC	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.31G>T	22.37:g.39101991G>T	ENSP00000216044:p.Asp11Tyr	Somatic	0	26	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	Q6IC67	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.D11Y	ENST00000216044.5	37	c.31	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410819	0.62399	.	.	ENSG00000100226	ENST00000216044	T	0.35236	1.32	4.76	4.76	0.60689	.	0.371203	0.30510	N	0.009474	T	0.36608	0.0973	L	0.47716	1.5	0.39024	D	0.959808	P	0.38922	0.651	B	0.37943	0.261	T	0.44862	-0.9300	10	0.66056	D	0.02	.	18.1213	0.89572	0.0:0.0:1.0:0.0	.	11	O00178	GTPB1_HUMAN	Y	11	ENSP00000216044:D11Y	ENSP00000216044:D11Y	D	+	1	0	GTPBP1	37431937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.615000	0.46368	2.346000	0.79739	0.563000	0.77884	GAC	-	NULL		0.662	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	protein_coding	OTTHUMT00000075532.1	G	NM_004286	-		39101991	1	no_errors	ENST00000216044	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39101991	G	T	39101991	3	4	155	1	0	0	0	0	1	0	0	0	6880	1174	41	3	33	3	GTPBP1	22	39101991	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09		39101991	12202575	37	11222											
ATRX	546	genome.wustl.edu	37	chrX	76778881	76778883	+	Splice_Site	DEL	TGT	TGT	-													gctctgcaagtatggtatccTgtttagaggggttgaaataa							TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chrX:76778881_76778883delTGT	ENST00000373344.5	-	31	6914		c.e31-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATGGTATCCTGTTTAGAGGGGT	0.369			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0								ENSG00000085224																																			ATRX	SO:0001630	splice_region_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6700-2ACA>-	X.37:g.76778881_76778883delTGT		Somatic	0	247	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	182	16.89	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL							-	e31-2	ENST00000373344.5	37	c.6700-4_6700-2	CCDS14434.1	X																																																																																			-	-		0.369	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TGT	NM_000489		Intron	76778883	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.936:0.928	-	-	76778883	TGT	-	76778881	8	5	155	1	0	1	0	1	0	0	1	0	1208	1594	55	0	800	0	ATRX	23	76778881	Splice_Site	DEL	TGT	TCGA-IE-A6BZ-01A-11D-A307-09		76778881	78491679	38	11223											
TMEM35	59353	genome.wustl.edu	37	chrX	100349695	100349695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacccttgtgcctgggcGtcccaaagatgtggccaact	11	13	0	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chrX:100349695G>A	ENST00000372930.4	+	2	537	c.254G>A	c.(253-255)cGt>cAt	p.R85H	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	85						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTGCCTGGGCGTCCCAAAGAT	0.537																																																	0								ENSG00000126950						286	216	240					X																	100349695		2203	4300	6503	TMEM35	SO:0001583	missense	0			-	HGNC	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.254G>A	X.37:g.100349695G>A	ENSP00000362021:p.Arg85His	Somatic	0	221	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	73	91	44.51	Q9H7Y3	Missense_Mutation	SNP							NULL	p.R85H	ENST00000372930.4	37	c.254	CCDS14478.1	X	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630416	0.87660	.	.	ENSG00000126950	ENST00000372930	.	.	.	5.32	5.32	0.75619	.	0.087663	0.64402	D	0.000003	T	0.73218	0.3559	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75414	-0.3326	9	0.59425	D	0.04	.	18.0613	0.89378	0.0:0.0:1.0:0.0	.	85	Q53FP2	TMM35_HUMAN	H	85	.	ENSP00000362021:R85H	R	+	2	0	TMEM35	100236351	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.141000	0.71744	2.201000	0.70794	0.594000	0.82650	CGT	-	NULL		0.537	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM35	protein_coding	OTTHUMT00000057508.1	G	NM_021637	-		100349695	1	no_errors	ENST00000372930	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100349695	G	A	100349695	3	1	155	1	0	0	0	0	1	0	0	0	16164	1145	40	1	260	1	TMEM35	23	100349695	Missense_Mutation	SNP	G	TCGA-IE-A6BZ-01A-11D-A307-09	23570814	100349695	54920865	39	11224											
ZCCHC12	170261	genome.wustl.edu	37	chrX	117959330	117959330	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctataatggccagcatggcAgacagaaacatgaagttgtt	10	8	0	3			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chrX:117959330A>T	ENST00000310164.2	+	4	630	c.123A>T	c.(121-123)gcA>gcT	p.A41A		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	41					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCAGCATGGCAGACAgaaaca	0.572																																																	0								ENSG00000174460						75	68	70					X																	117959330		2203	4300	6503	ZCCHC12	SO:0001819	synonymous_variant	0			-	HGNC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.123A>T	X.37:g.117959330A>T		Somatic	0	83	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	31	48.33	B3KV48|Q6PID5|Q8N1C1	Silent	SNP							superfamily_Znf_CCHC	p.A41	ENST00000310164.2	37	c.123	CCDS14574.1	X																																																																																			-	NULL		0.572	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	protein_coding	OTTHUMT00000058014.1	A	NM_173798	-		117959330	1	no_errors	ENST00000310164	ensembl	human	known	74_37	silent	SNP	0.996	T	T	117959330	A	T	117959330	2	4	155	1	0	0	0	0	0	0	0	1	17588	175	7	5		5	ZCCHC12	23	117959330	Silent	SNP	A	TCGA-IE-A6BZ-01A-11D-A307-09	17609635	117959330	37311230	40	11225											
GPR112	139378	genome.wustl.edu	37	chrX	135427331	135427331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttcctagaaaccagaCagcatttccattggcaacaa	6	10	0	2			TCGA-IE-A6BZ-01A-11D-A307-09	TCGA-IE-A6BZ-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201198d0-2d2c-4d33-9c31-f82d4daf7057	530f54b3-8d78-4d13-9b9d-17390fb27d29	g.chrX:135427331C>T	ENST00000394143.1	+	6	1757	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	GPR112_ENST00000412101.1_Missense_Mutation_p.T284I|GPR112_ENST00000287534.4_Missense_Mutation_p.T426I|GPR112_ENST00000370652.1_Missense_Mutation_p.T489I|GPR112_ENST00000394141.1_Missense_Mutation_p.T284I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	489					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)					AGAAACCAGACAGCATTTCCA	0.463																																																	0								ENSG00000156920						97	83	88					X																	135427331		2203	4300	6503	GPR112	SO:0001583	missense	0			-	HGNC	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.1466C>T	X.37:g.135427331C>T	ENSP00000377699:p.Thr489Ile	Somatic	0	96	0		0.704113861653245				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	35	50.70	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T489I	ENST00000394143.1	37	c.1466	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	8.752	0.921526	0.17982	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.69;1.55	3.29	1.99	0.26369	.	.	.	.	.	T	0.16128	0.0388	N	0.24115	0.695	0.09310	N	1	P;P;B	0.38677	0.642;0.642;0.3	B;B;B	0.37780	0.258;0.17;0.027	T	0.14504	-1.0470	9	0.09338	T	0.73	.	5.295	0.15747	0.0:0.7468:0.0:0.2532	.	426;284;489	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	489;489;284;426;284	ENSP00000377699:T489I;ENSP00000359686:T489I;ENSP00000416526:T284I;ENSP00000287534:T426I;ENSP00000377697:T284I	ENSP00000287534:T426I	T	+	2	0	GPR112	135254997	0.456000	0.25744	0.007000	0.13788	0.041000	0.13682	0.574000	0.23714	0.270000	0.21984	0.411000	0.27672	ACA	-	NULL		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	C		-		135427331	1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	SNP	0.037	T	T	135427331	C	T	135427331	3	4	155	1	0	0	0	0	1	0	0	0	6631	478	17	2	1476	2	GPR112	23	135427331	Missense_Mutation	SNP	C	TCGA-IE-A6BZ-01A-11D-A307-09	17468001	135427331	19843229	41	11226											
NBPF1	55672	genome.wustl.edu	37	chr1	16913618	16913618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaccagagttgagttgacTttgtcttcctcaaaggtgat	9	8	2	4			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:16913618T>G	ENST00000430580.2	-	11	1592	c.705A>C	c.(703-705)aaA>aaC	p.K235N		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	235	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGAGTTGACTTTGTCTTCCT	0.448																																																	0								ENSG00000219481						498	430	453					1																	16913618		2198	4295	6493	NBPF1	SO:0001583	missense	0			-	HGNC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.705A>C	1.37:g.16913618T>G	ENSP00000474456:p.Lys235Asn	Somatic	0	177	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	180	23.40	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	36	0	0	37	27.45	14	pfam_NBPF_dom	p.K235N	ENST00000430580.2	37	c.705		1																																																																																			-	pfam_NBPF_dom		0.448	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	protein_coding	OTTHUMT00000106436.3	T	NM_017940	-		16913618	-1	no_errors	ENST00000430580	ensembl	human	novel	74_37	missense	SNP	0.004	G	G	16913618	T	G	16913618	3	3	156	1	0	0	0	0	1	0	0	0	10194	1606	56	5	2795	5	NBPF1	1	16913618	Missense_Mutation	SNP	T	TCGA-IF-A4AJ-01A-11D-A24N-09		16913618	232337003	1	11227											
LDLRAP1	26119	genome.wustl.edu	37	chr1	25883732	25883732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accagagcctcgagtgccacGccttcctctgcaccaagcgg	10	17	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:25883732G>T	ENST00000374338.4	+	4	552	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	145	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGTGCCACGCCTTCCTCTG	0.617																																																	0								ENSG00000157978						98	74	82					1																	25883732		2203	4300	6503	LDLRAP1	SO:0001583	missense	0			-	HGNC	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.433G>T	1.37:g.25883732G>T	ENSP00000363458:p.Ala145Ser	Somatic	0	41	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	24	0	0	41	0.00	0	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A145S	ENST00000374338.4	37	c.433	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.622766	0.96660	.	.	ENSG00000157978	ENST00000374338	T	0.20200	2.09	5.61	5.61	0.85477	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.79123	2.44	0.80722	D	1	D	0.56746	0.977	P	0.56648	0.803	T	0.31110	-0.9955	10	0.46703	T	0.11	-24.9807	18.6267	0.91342	0.0:0.0:1.0:0.0	.	145	Q5SW96	ARH_HUMAN	S	145	ENSP00000363458:A145S	ENSP00000363458:A145S	A	+	1	0	LDLRAP1	25756319	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.452000	0.97615	2.648000	0.89879	0.563000	0.77884	GCC	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.617	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	protein_coding	OTTHUMT00000019350.3	G	NM_015627	-		25883732	1	no_errors	ENST00000374338	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25883732	G	T	25883732	3	4	156	1	0	0	0	0	1	0	0	0	8710	1087	38	3	447	3	LDLRAP1	1	25883732	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	8970114	25883732	223366889	2	11228											
AK2	204	genome.wustl.edu	37	chr1	33480148	33480148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatgggctcttttggaGggttgaactcctcgtggtag	13	8	2	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:33480148G>T	ENST00000373449.2	-	5	514	c.473C>A	c.(472-474)cCt>cAt	p.P158H	AK2_ENST00000354858.6_Missense_Mutation_p.P158H|AK2_ENST00000467905.1_Missense_Mutation_p.P158H|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000548033.1_Missense_Mutation_p.P116H|AK2_ENST00000480134.1_Silent_p.P126P	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTCTTTTGGAGGGTTGAACTC	0.428																																																	0								ENSG00000004455						211	221	217					1																	33480148		2203	4300	6503	AK2	SO:0001583	missense	0			-	HGNC	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.473C>A	1.37:g.33480148G>T	ENSP00000362548:p.Pro158His	Somatic	0	35	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP	33	0	0	62	0.00	0	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.P158H	ENST00000373449.2	37	c.473	CCDS373.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.087857	0.94100	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.12	5.12	0.69794	Adenylate kinase, active site lid domain (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	H	0.99927	4.965	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;0.999;1.0;1.0	D	0.98565	1.0643	10	0.87932	D	0	-18.2157	19.4503	0.94863	0.0:0.0:1.0:0.0	.	150;116;158;158	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	H	158;116;158;158;158	ENSP00000362548:P158H;ENSP00000449003:P116H;ENSP00000447082:P158H;ENSP00000346921:P158H	ENSP00000346921:P158H	P	-	2	0	AK2	33252735	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.827000	0.99397	2.760000	0.94817	0.655000	0.94253	CCT	-	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,tigrfam_Adenyl_kin_sub		0.428	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AK2	protein_coding	OTTHUMT00000011884.1	G	NM_001625	-		33480148	-1	no_errors	ENST00000354858	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33480148	G	T	33480148	3	4	156	1	0	0	0	0	1	0	0	0	440	1000	35	3	263	3	AK2	1	33480148	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	7596416	33480148	215770473	3	11229											
ZNF644	84146	genome.wustl.edu	37	chr1	91404037	91404037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgatttcttctcaagagaCaaatcagtccaatgaaaaac	5	10	3	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:91404037C>A	ENST00000370440.1	-	3	3091	c.2874G>T	c.(2872-2874)ttG>ttT	p.L958F	ZNF644_ENST00000337393.5_Missense_Mutation_p.L958F|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	958					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTCAAGAGACAAATCAGTCC	0.398																																																	0								ENSG00000122482						74	66	69					1																	91404037		2203	4299	6502	ZNF644	SO:0001583	missense	0			-	HGNC	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2874G>T	1.37:g.91404037C>A	ENSP00000359469:p.Leu958Phe	Somatic	0	28	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	32	3.03	1	76	11.63	10	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L958F	ENST00000370440.1	37	c.2874	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729856	0.48833	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00856	5.61;5.61	5.84	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.01489	0.0048	L	0.34521	1.04	0.49915	D	0.99983	D	0.89917	1.0	D	0.80764	0.994	T	0.69165	-0.5217	10	0.66056	D	0.02	-4.2518	12.5795	0.56383	0.0:0.8695:0.0:0.1305	.	958	Q9H582	ZN644_HUMAN	F	958;958;530	ENSP00000359469:L958F;ENSP00000337008:L958F	ENSP00000337008:L958F	L	-	3	2	ZNF644	91176625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.336000	0.33850	2.779000	0.95612	0.591000	0.81541	TTG	-	NULL		0.398	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	protein_coding	OTTHUMT00000027846.2	C	NM_032186	-		91404037	-1	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91404037	C	A	91404037	3	1	156	1	0	0	0	0	1	0	0	0	18067	477	17	3	1125	3	ZNF644	1	91404037	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	57923889	91404037	157846584	4	11230											
SYCP1	6847	genome.wustl.edu	37	chr1	115419372	115419372	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaaagtaaaggaagattatGaaaaaatccaacaccttgaa	6	5	0	3			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:115419372G>T	ENST00000369522.3	+	11	982	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.E248*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	248					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GGAAGATTATGAAAAAATCCA	0.229																																																	0								ENSG00000198765						20	22	21					1																	115419372		2099	4111	6210	SYCP1	SO:0001587	stop_gained	0			-	HGNC	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.742G>T	1.37:g.115419372G>T	ENSP00000358535:p.Glu248*	Somatic	0	50	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	60	16.67	O14963|Q5VXJ6	Nonsense_Mutation	SNP	30	0	0	54	18.18	12	pfam_SCP-1	p.E248*	ENST00000369522.3	37	c.742	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.456930	0.96223	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.92	4.92	0.64577	.	0.192207	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-15.3342	15.9721	0.80027	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	ENSP00000358531:E248X	E	+	1	0	SYCP1	115220895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.768000	0.68858	2.432000	0.82394	0.650000	0.86243	GAA	-	pfam_SCP-1		0.229	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	protein_coding	OTTHUMT00000033386.1	G	NM_003176	-		115419372	1	no_errors	ENST00000369518	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	115419372	G	T	115419372	4	4	156	1	0	0	0	0	0	1	0	0	15438	1291	45	3	780	3	SYCP1	1	115419372	Nonsense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	24015335	115419372	133831249	5	11231											
FCRL1	115350	genome.wustl.edu	37	chr1	157771769	157771769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgttggcctcacaggaGtagtttccagaatgttcttc	9	10	2	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:157771769G>A	ENST00000368176.3	-	5	889	c.822C>T	c.(820-822)taC>taT	p.Y274Y	FCRL1_ENST00000491942.1_Silent_p.Y274Y|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Silent_p.Y274Y	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	274	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTCACAGGAGTAGTTTCCAG	0.552																																					GBM(54;482 1003 11223 30131 35730)												0								ENSG00000163534						78	82	81					1																	157771769		2203	4300	6503	FCRL1	SO:0001819	synonymous_variant	0			-	HGNC	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.822C>T	1.37:g.157771769G>A		Somatic	0	34	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	18	0	0	42	37.31	25	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Y274	ENST00000368176.3	37	c.822	CCDS1170.1	1																																																																																			-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.552	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	protein_coding	OTTHUMT00000051401.1	G	NM_052938	-		157771769	-1	no_errors	ENST00000368176	ensembl	human	known	74_37	silent	SNP	0.626	A	A	157771769	G	A	157771769	2	1	156	1	0	0	0	0	0	0	0	1	5796	1024	36	2		2	FCRL1	1	157771769	Silent	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	42352397	157771769	91478852	6	11232											
SOAT1	6646	genome.wustl.edu	37	chr1	179322767	179322767	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttcctggacttgtcgttaCgtgttttagaagcttggact	11	8	0	1	rs149858295		TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr1:179322767C>A	ENST00000367619.3	+	16	1787	c.1644C>A	c.(1642-1644)taC>taA	p.Y548*	SOAT1_ENST00000540564.1_Nonsense_Mutation_p.Y490*|SOAT1_ENST00000535686.1_Nonsense_Mutation_p.Y284*|SOAT1_ENST00000539888.1_Nonsense_Mutation_p.Y483*	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	548					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTGTCGTTACGTGTTTTAGA	0.433																																																	0								ENSG00000057252						247	223	231					1																	179322767		2203	4300	6503	SOAT1	SO:0001587	stop_gained	0			-	HGNC	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1644C>A	1.37:g.179322767C>A	ENSP00000356591:p.Tyr548*	Somatic	0	57	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	49	39.51	A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Nonsense_Mutation	SNP	28	0	0	40	42.86	30	pfam_MBOAT_fam	p.Y548*	ENST00000367619.3	37	c.1644	CCDS1330.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.899765	0.98996	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	.	.	.	5.65	-3.18	0.05186	.	0.496841	0.20464	N	0.091833	.	.	.	.	.	.	0.27977	N	0.936188	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.335	12.7012	0.57034	0.0:0.2988:0.0:0.7012	.	.	.	.	X	483;490;284;548	.	ENSP00000356591:Y548X	Y	+	3	2	SOAT1	177589390	0.646000	0.27295	0.100000	0.21137	0.992000	0.81027	-0.478000	0.06575	-0.708000	0.05015	0.563000	0.77884	TAC	-	NULL		0.433	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT1	protein_coding	OTTHUMT00000085286.2	C	NM_003101	-		179322767	1	no_errors	ENST00000367619	ensembl	human	known	74_37	nonsense	SNP	0.036	A	A	179322767	C	A	179322767	4	1	156	1	0	0	0	0	0	1	0	0	14918	547	19	3	1702	3	SOAT1	1	179322767	Nonsense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	21550998	179322767	69927854	7	11233											
UGP2	7360	genome.wustl.edu	37	chr2	64109736	64109736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccctaaaagtctgattgGtgtgaggaatgagaatacct	12	6	1	3	rs533756550		TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr2:64109736G>T	ENST00000337130.5	+	4	868	c.392G>T	c.(391-393)gGt>gTt	p.G131V	UGP2_ENST00000445915.2_Missense_Mutation_p.G140V|UGP2_ENST00000394417.2_Missense_Mutation_p.G120V|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.G120V|ACA59_ENST00000515966.1_RNA	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	131					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGTCTGATTGGTGTGAGGAAT	0.393																																																	0								ENSG00000169764						140	142	141					2																	64109736		2203	4300	6503	UGP2	SO:0001583	missense	0			-	HGNC		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.392G>T	2.37:g.64109736G>T	ENSP00000338703:p.Gly131Val	Somatic	0	41	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	31	0	0	53	0.00	0	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.G131V	ENST00000337130.5	37	c.392	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210162	0.79240	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.95	5.95	0.96441	.	0.041877	0.85682	D	0.000000	T	0.12178	0.0296	N	0.08118	0	0.80722	D	1	P;B	0.34909	0.475;0.336	B;B	0.33121	0.158;0.158	T	0.15065	-1.0450	10	0.52906	T	0.07	-0.8915	20.3931	0.98965	0.0:0.0:1.0:0.0	.	140;131	E7EUC7;Q16851	.;UGPA_HUMAN	V	120;120;131;120;123;140;120;120;120	ENSP00000377939:G120V;ENSP00000420793:G120V;ENSP00000338703:G131V;ENSP00000419442:G120V;ENSP00000420131:G123V;ENSP00000411803:G140V;ENSP00000419335:G120V;ENSP00000420342:G120V;ENSP00000419238:G120V	ENSP00000338703:G131V	G	+	2	0	UGP2	63963240	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GGT	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.393	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	protein_coding	OTTHUMT00000251688.1	G	NM_006759	-		64109736	1	no_errors	ENST00000337130	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64109736	G	T	64109736	3	4	156	1	0	0	0	0	1	0	0	0	16950	1261	44	3	406	3	UGP2	2	64109736	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		64109736	179089637	8	11234											
CSRNP3	80034	genome.wustl.edu	37	chr2	166535783	166535783	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccatgcaaagaatgcTtctttttatgccaactcttc	6	10	2	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr2:166535783T>A	ENST00000342316.4	+	5	1550	c.1278T>A	c.(1276-1278)gcT>gcA	p.A426A	CSRNP3_ENST00000314499.7_Silent_p.A426A|CSRNP3_ENST00000409420.1_Silent_p.A458A	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	426					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAAAGAATGCTTCTTTTTATG	0.443																																																	0								ENSG00000178662						134	135	135					2																	166535783		2203	4300	6503	CSRNP3	SO:0001819	synonymous_variant	0			-	HGNC	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1278T>A	2.37:g.166535783T>A		Somatic	0	41	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	38	0	0	40	20.00	10	prints_Cys/Ser-rich_nuc_prot	p.A426	ENST00000342316.4	37	c.1278	CCDS2225.1	2																																																																																			-	NULL		0.443	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	protein_coding	OTTHUMT00000255191.2	T	NM_024969	-		166535783	1	no_errors	ENST00000314499	ensembl	human	known	74_37	silent	SNP	0.988	A	A	166535783	T	A	166535783	2	1	156	1	0	0	0	0	0	0	0	1	3967	1596	56	5		5	CSRNP3	2	166535783	Silent	SNP	T	TCGA-IF-A4AJ-01A-11D-A24N-09	102426047	166535783	76663590	9	11235											
IQCA1	79781	genome.wustl.edu	37	chr2	237374267	237374267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtagtcctcttcatgCtttatctgcacctcattccg	5	15	4	0			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr2:237374267C>A	ENST00000409907.3	-	6	1081	c.807G>T	c.(805-807)aaG>aaT	p.K269N	IQCA1_ENST00000309507.5_Missense_Mutation_p.K265N|IQCA1_ENST00000431676.2_Missense_Mutation_p.K269N	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	269							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CCTCTTCATGCTTTATCTGCA	0.463																																																	0								ENSG00000132321						160	147	151					2																	237374267		1963	4147	6110	IQCA1	SO:0001583	missense	0			-	HGNC	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.807G>T	2.37:g.237374267C>A	ENSP00000387347:p.Lys269Asn	Somatic	0	42	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	53	26.39	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	35	0	0	50	15.25	9	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.K269N	ENST00000409907.3	37	c.807	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.74|12.74	2.027292|2.027292	0.35797|0.35797	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.94330	.|-3.28;-3.28;-3.4	5.37|5.37	3.54|3.54	0.40534|0.40534	.|.	.|0.583249	.|0.16413	.|N	.|0.215498	D|D	0.90518|0.90518	0.7029|0.7029	L|L	0.54323|0.54323	1.7|1.7	0.27653|0.27653	N|N	0.947319|0.947319	.|B;B;B	.|0.30326	.|0.036;0.276;0.061	.|B;B;B	.|0.35278	.|0.011;0.199;0.017	D|D	0.84641|0.84641	0.0695|0.0695	5|10	.|0.48119	.|T	.|0.1	.|.	7.1246|7.1246	0.25465|0.25465	0.0:0.656:0.0:0.344|0.0:0.656:0.0:0.344	.|.	.|269;276;269	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	S|N	288|269;276;265;269;265	.|ENSP00000387347:K269N;ENSP00000311951:K265N;ENSP00000407213:K269N	.|ENSP00000254653:K269N	A|K	-|-	1|3	0|2	IQCA1|IQCA1	237039006|237039006	0.874000|0.874000	0.30092|0.30092	0.347000|0.347000	0.25668|0.25668	0.037000|0.037000	0.13140|0.13140	0.926000|0.926000	0.28804|0.28804	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCA|AAG	-	NULL		0.463	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	protein_coding	OTTHUMT00000329266.1	C	NM_024726	-		237374267	-1	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	SNP	0.787	A	A	237374267	C	A	237374267	3	1	156	1	0	0	0	0	1	0	0	0	7804	796	28	3	1717	3	IQCA1	2	237374267	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	70838484	237374267	5825106	10	11236											
C3orf39	84892	genome.wustl.edu	37	chr3	43121738	43121738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgttctctggcatcaTgttccgccaggctacatact	9	12	2	0			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr3:43121738T>C	ENST00000344697.2	-	2	1531	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V	POMGNT2_ENST00000441964.1_Missense_Mutation_p.M396V	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	396					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TCTGGCATCATGTTCCGCCAG	0.592																																																	0								ENSG00000144647						80	70	74					3																	43121738		2203	4300	6503	POMGNT2	SO:0001583	missense	0			-	HGNC	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1186A>G	3.37:g.43121738T>C	ENSP00000344125:p.Met396Val	Somatic	0	35	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	B3KWC3|Q96SY3	Missense_Mutation	SNP	25	0	0	27	41.30	19	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.M396V	ENST00000344697.2	37	c.1186	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	T	9.764	1.170750	0.21621	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.75589	-0.95;-0.95	5.53	3.09	0.35607	.	0.210813	0.49305	D	0.000160	T	0.53367	0.1792	N	0.14661	0.345	0.25675	N	0.985851	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	10	0.31617	T	0.26	-22.0436	7.6273	0.28220	0.0:0.0733:0.1412:0.7855	.	396	Q8NAT1	AGO61_HUMAN	V	396	ENSP00000408992:M396V;ENSP00000344125:M396V	ENSP00000344125:M396V	M	-	1	0	C3orf39	43096742	0.973000	0.33851	0.612000	0.29024	0.956000	0.61745	1.441000	0.35035	0.379000	0.24794	0.529000	0.55759	ATG	-	NULL		0.592	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT2	protein_coding	OTTHUMT00000256643.1	T	NM_032806	-		43121738	-1	no_errors	ENST00000344697	ensembl	human	known	74_37	missense	SNP	0.983	C	C	43121738	T	C	43121738	3	2	156	1	0	0	0	0	1	0	0	0	2231	1464	51	5	560	5	C3orf39	3	43121738	Missense_Mutation	SNP	T	TCGA-IF-A4AJ-01A-11D-A24N-09		43121738	154900692	11	11237											
COL6A5	256076	genome.wustl.edu	37	chr3	130187932	130187932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacctggaatttgatttgGttacttataacagtatacac	6	7	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr3:130187932G>A	ENST00000432398.2	+	38	7578	c.7084G>A	c.(7084-7086)Gtt>Att	p.V2362I	COL6A5_ENST00000265379.6_Missense_Mutation_p.V2362I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2362	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATTTGATTTGGTTACTTATAA	0.443																																																	0								ENSG00000172752						77	72	73					3																	130187932		1961	4135	6096	COL6A5	SO:0001583	missense	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7084G>A	3.37:g.130187932G>A	ENSP00000390895:p.Val2362Ile	Somatic	0	33	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	31	0	0	27	41.30	19	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V2362I	ENST00000432398.2	37	c.7084		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.083|2.083	-0.410308|-0.410308	0.04799|0.04799	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|T;T;T;T	.|0.13538	.|2.58;2.58;2.58;2.58	5.35|5.35	-6.19|-6.19	0.02078|0.02078	.|von Willebrand factor, type A (3);	.|0.804236	.|0.10560	.|N	.|0.660409	T|T	0.06826|0.06826	0.0174|0.0174	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17038	.|0.02;0.007	.|B;B	.|0.20384	.|0.029;0.011	T|T	0.39143|0.39143	-0.9628|-0.9628	5|10	.|0.20519	.|T	.|0.43	.|.	7.2781|7.2781	0.26296|0.26296	0.3315:0.4103:0.2582:0.0|0.3315:0.4103:0.2582:0.0	.|.	.|2362;2362	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	D|I	613|2362;2362;305;197	.|ENSP00000390895:V2362I;ENSP00000265379:V2362I;ENSP00000362250:V305I;ENSP00000424968:V197I	.|ENSP00000265379:V2362I	G|V	+|+	2|1	0|0	COL6A5|COL6A5	131670622|131670622	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.158000|0.158000	0.22134|0.22134	-0.591000|-0.591000	0.05753|0.05753	-1.479000|-1.479000	0.01867|0.01867	-0.175000|-0.175000	0.13238|0.13238	GGT|GTT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.443	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		G	NM_153264	-		130187932	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	SNP	0.059	A	A	130187932	G	A	130187932	3	1	156	1	0	0	0	0	1	0	0	0	3704	1261	44	2	7230	2	COL6A5	3	130187932	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	87066194	130187932	67834498	12	11238											
GPR98	84059	genome.wustl.edu	37	chr5	90052854	90052854	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acccttgaacgttcttcaagTtcctgtagtccggctggctg	10	12	2	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr5:90052854T>A	ENST00000405460.2	+	57	11912	c.11816T>A	c.(11815-11817)gTt>gAt	p.V3939D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3939	Calx-beta 26. {ECO:0000255}.				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)			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)		GTTCTTCAAGTTCCTGTAGTC	0.453																																																	0								ENSG00000164199						96	94	94					5																	90052854		1853	4093	5946	GPR98	SO:0001583	missense	0			-	HGNC	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.11816T>A	5.37:g.90052854T>A	ENSP00000384582:p.Val3939Asp	Somatic	0	34	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	16	68.00	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	32	0	0	15	63.41	26	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V3939D	ENST00000405460.2	37	c.11816	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.350101|4.350101	0.82132|0.82132	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.32753	.|1.44	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.391921	.|0.28760	.|N	.|0.014240	T|T	0.50343|0.50343	0.1610|0.1610	M|M	0.76938|0.76938	2.355|2.355	0.80722|0.80722	D|D	1|1	.|D;P	.|0.56521	.|0.976;0.921	.|P;P	.|0.54312	.|0.748;0.478	T|T	0.57551|0.57551	-0.7792|-0.7792	5|10	.|0.87932	.|D	.|0	.|.	15.5333|15.5333	0.75980|0.75980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3939;3939	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	I|D	1505|3939	.|ENSP00000384582:V3939D	.|ENSP00000296619:V3939D	F|V	+|+	1|2	0|0	GPR98|GPR98	90088610|90088610	0.991000|0.991000	0.36638|0.36638	0.285000|0.285000	0.24819|0.24819	0.872000|0.872000	0.50106|0.50106	7.073000|7.073000	0.76784|0.76784	2.129000|2.129000	0.65627|0.65627	0.383000|0.383000	0.25322|0.25322	TTC|GTT	-	pfam_Calx_beta,smart_Calx_beta		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	T	NM_032119	-		90052854	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	0.763	A	A	90052854	T	A	90052854	3	1	156	1	0	0	0	0	1	0	0	0	6723	1725	60	5	12042	5	GPR98	5	90052854	Missense_Mutation	SNP	T	TCGA-IF-A4AJ-01A-11D-A24N-09		90052854	90862406	13	11239											
PSD2	84249	genome.wustl.edu	37	chr5	139216824	139216824	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctgtacctgcagaagGtgagagactgccccagagac	11	13	0	4			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr5:139216824G>T	ENST00000274710.3	+	11	1870		c.e11+1			NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCAGAAGGTGAGAGACTG	0.637																																																	0								ENSG00000146005						65	67	66					5																	139216824		2203	4300	6503	PSD2	SO:0001630	splice_region_variant	0			-	HGNC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1665+1G>T	5.37:g.139216824G>T		Somatic	0	49	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DQD3|Q8N3J8	Splice_Site	SNP	17	0	0	33	10.81	4	-	e10+1	ENST00000274710.3	37	c.1665+1	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605765	0.87157	.	.	ENSG00000146005	ENST00000274710	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7524	0.91820	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSD2	139197008	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.826000	0.99387	2.441000	0.82636	0.484000	0.47621	.	-	-		0.637	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	protein_coding	OTTHUMT00000251339.1	G	NM_032289	-	Intron	139216824	1	no_errors	ENST00000274710	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	139216824	G	T	139216824	5	4	156	1	0	0	0	0	0	0	1	0	12652	1275	44	3	1704	3	PSD2	5	139216824	Splice_Site	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	49163970	139216824	41698436	14	11240											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559085	140559085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcccaggtcacctactcGctgctgccgccccaggatcc	9	19	1	0	rs145141248	byFrequency	TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr5:140559085G>A	ENST00000239444.2	+	1	1715	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	490	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(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.662																																																	0								ENSG00000120322						92	141	125					5																	140559085		2203	4297	6500	PCDHB8	SO:0001819	synonymous_variant	0			-	HGNC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1470G>A	5.37:g.140559085G>A		Somatic	0	454	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	332	14.21	B9EGV1	Silent	SNP	54	0	0	61	11.43	8	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S490	ENST00000239444.2	37	c.1470	CCDS4250.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	protein_coding	OTTHUMT00000251816.2	G	NM_019120	-		140559085	1	no_errors	ENST00000239444	ensembl	human	known	74_37	silent	SNP	0.988	A	A	140559085	G	A	140559085	2	1	156	1	0	0	0	0	0	0	0	1	11550	1074	38	1		1	PCDHB8	5	140559085	Silent	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	1342261	140559085	40356175	15	11241											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750156	140750156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggatttacctactaggaaCctgcgggttattgcagagaa	13	7	0	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr5:140750156C>A	ENST00000576222.1	+	1	326	c.195C>A	c.(193-195)aaC>aaA	p.N65K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	65	Cadherin 1. {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)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTAGGAACCTGCGGGTTA	0.547																																																	0								ENSG00000262209						116	123	121					5																	140750156		1847	4101	5948	PCDHGB3	SO:0001583	missense	0			-	HGNC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.195C>A	5.37:g.140750156C>A	ENSP00000461862:p.Asn65Lys	Somatic	0	22	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A7E229|Q9Y5C7	Missense_Mutation	SNP	28	0	0	25	21.88	7	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N65K	ENST00000576222.1	37	c.195	CCDS58980.1	5																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	protein_coding	OTTHUMT00000437094.1	C	NM_018924	-		140750156	1	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	SNP	0.691	A	A	140750156	C	A	140750156	3	1	156	1	0	0	0	0	1	0	0	0	11566	506	18	3	197	3	PCDHGB3	5	140750156	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	191071	140750156	40165104	16	11242											
WWC1	23286	genome.wustl.edu	37	chr5	167850929	167850929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatggctgaccccctcCtggctggtgatgccttcctc	9	17	1	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr5:167850929C>A	ENST00000265293.4	+	11	2168	c.1666C>A	c.(1666-1668)Ctg>Atg	p.L556M	WWC1_ENST00000521089.1_Missense_Mutation_p.L556M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	556					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGACCCCCTCCTGGCTGGTGA	0.582																																																	0								ENSG00000113645						72	63	66					5																	167850929		2203	4300	6503	WWC1	SO:0001583	missense	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1666C>A	5.37:g.167850929C>A	ENSP00000265293:p.Leu556Met	Somatic	0	43	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	23	0	0	27	0.00	0	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.L556M	ENST00000265293.4	37	c.1666	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.556|7.556	0.663802|0.663802	0.14710|0.14710	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.25912|.	1.77;1.77|.	5.22|5.22	1.96|1.96	0.26148|0.26148	.|.	0.081881|.	0.49916|.	D|.	0.000131|.	T|T	0.61048|0.61048	0.2316|0.2316	M|M	0.75264|0.75264	2.295|2.295	0.50039|0.50039	D|D	0.999842|0.999842	B;B;B;B|.	0.26902|.	0.061;0.116;0.116;0.163|.	B;B;B;B|.	0.33690|.	0.051;0.168;0.168;0.074|.	T|T	0.57464|0.57464	-0.7807|-0.7807	10|5	0.33141|.	T|.	0.24|.	.|.	3.9104|3.9104	0.09201|0.09201	0.1712:0.4953:0.0:0.3334|0.1712:0.4953:0.0:0.3334	.|.	556;462;462;556|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	M|H	556|517;332	ENSP00000265293:L556M;ENSP00000427772:L556M|.	ENSP00000265293:L556M|.	L|P	+|+	1|2	2|0	WWC1|WWC1	167783507|167783507	0.984000|0.984000	0.35163|0.35163	0.997000|0.997000	0.53966|0.53966	0.161000|0.161000	0.22273|0.22273	1.514000|1.514000	0.35834|0.35834	0.571000|0.571000	0.29365|0.29365	0.655000|0.655000	0.94253|0.94253	CTG|CCT	-	NULL		0.582	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	C	NM_015238	-		167850929	1	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	SNP	0.993	A	A	167850929	C	A	167850929	3	1	156	1	0	0	0	0	1	0	0	0	17418	680	24	3	1708	3	WWC1	5	167850929	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	27100773	167850929	13064331	17	11243											
RCAN2	10231	genome.wustl.edu	37	chr6	46216533	46216533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatcctagctcgggctgcaGatttaggattgctgaagttt	11	8	0	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr6:46216533G>A	ENST00000330430.6	-	2	376	c.188C>T	c.(187-189)tCt>tTt	p.S63F	RCAN2_ENST00000371374.1_Missense_Mutation_p.S109F|RCAN2_ENST00000405162.1_Missense_Mutation_p.S109F|RCAN2_ENST00000306764.7_Missense_Mutation_p.S109F	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	63					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCGGGCTGCAGATTTAGGATT	0.393																																																	0								ENSG00000172348						101	90	93					6																	46216533		1837	4105	5942	RCAN2	SO:0001583	missense	0			-	HGNC	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.188C>T	6.37:g.46216533G>A	ENSP00000329454:p.Ser63Phe	Somatic	0	42	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	23	64.62	A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	39	0	0	7	87.50	49	pfam_Calcipressin	p.S109F	ENST00000330430.6	37	c.326	CCDS43469.1	6	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403432	0.62288	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.82	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);	0.215254	0.40640	N	0.001047	T	0.66416	0.2787	M	0.61703	1.905	0.44359	D	0.997259	P;D	0.54047	0.468;0.964	P;P	0.59546	0.664;0.859	T	0.72327	-0.4327	9	0.87932	D	0	-21.9795	14.1686	0.65493	0.0716:0.0:0.9284:0.0	.	109;63	Q14206-2;Q14206	.;RCAN2_HUMAN	F	63;109;109;109	.	ENSP00000305223:S109F	S	-	2	0	RCAN2	46324492	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	7.568000	0.82369	1.466000	0.48025	-0.150000	0.13652	TCT	-	pfam_Calcipressin		0.393	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN2	protein_coding	OTTHUMT00000040782.1	G		-		46216533	-1	no_errors	ENST00000306764	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46216533	G	A	46216533	3	1	156	1	0	0	0	0	1	0	0	0	13177	942	33	2	417	2	RCAN2	6	46216533	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		46216533	124898534	18	11244											
CDK13	8621	genome.wustl.edu	37	chr7	40134028	40134028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagcaggagacacttacGtgtccacttcagactacaag	8	11	2	2	rs527978475		TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr7:40134028G>A	ENST00000181839.4	+	14	4593	c.3988G>A	c.(3988-3990)Gtg>Atg	p.V1330M	CDK13_ENST00000340829.5_Missense_Mutation_p.V1270M	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1330					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGACACTTACGTGTCCACTTC	0.493																																																	0								ENSG00000065883						171	165	167					7																	40134028		2203	4300	6503	CDK13	SO:0001583	missense	0			-	HGNC	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3988G>A	7.37:g.40134028G>A	ENSP00000181839:p.Val1330Met	Somatic	0	52	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	29	0	0	50	18.03	11	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V1330M	ENST00000181839.4	37	c.3988	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	6.937	0.542561	0.13250	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70164	-0.44;-0.46	5.54	4.66	0.58398	.	.	.	.	.	T	0.52191	0.1719	L	0.36672	1.1	0.09310	N	1	B;B	0.24675	0.109;0.066	B;B	0.14578	0.011;0.005	T	0.37384	-0.9708	8	.	.	.	-1.7932	7.4497	0.27231	0.1457:0.1372:0.717:0.0	.	1270;1330	Q14004-2;Q14004	.;CDK13_HUMAN	M	1330;1270	ENSP00000181839:V1330M;ENSP00000340557:V1270M	.	V	+	1	0	CDK13	40100553	0.791000	0.28800	0.284000	0.24805	0.873000	0.50193	3.291000	0.51764	1.342000	0.45619	0.655000	0.94253	GTG	-	NULL		0.493	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	protein_coding	OTTHUMT00000250726.2	G	NM_003718	-		40134028	1	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	SNP	0.109	A	A	40134028	G	A	40134028	3	1	156	1	0	0	0	0	1	0	0	0	3131	1145	40	1	4042	1	CDK13	7	40134028	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		40134028	119004635	19	11245											
AZGP1	563	genome.wustl.edu	37	chr7	99569380	99569380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgaccgttactgtcgTtgtaatactccacgatgtct	7	11	2	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr7:99569380T>C	ENST00000292401.4	-	2	462	c.326A>G	c.(325-327)aAc>aGc	p.N109S	AZGP1_ENST00000411734.1_Missense_Mutation_p.N106S	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	109					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GTTACTGTCGTTGTAATACTC	0.527																																																	0								ENSG00000160862						156	126	136					7																	99569380		2203	4300	6503	AZGP1	SO:0001583	missense	0			-	HGNC	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.326A>G	7.37:g.99569380T>C	ENSP00000292401:p.Asn109Ser	Somatic	0	113	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	71	33.94	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	20	0	0	20	33.33	10	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.N109S	ENST00000292401.4	37	c.326	CCDS5680.1	7	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406331	0.25378	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	T;T	0.01455	4.87;4.87	1.51	1.51	0.23008	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.820344	0.09870	U	0.745080	T	0.04861	0.0131	M	0.93062	3.375	0.29261	N	0.871304	B	0.23891	0.093	B	0.19666	0.026	T	0.11717	-1.0576	10	0.87932	D	0	.	5.1124	0.14815	0.0:0.0:0.0:1.0	.	109	P25311	ZA2G_HUMAN	S	109;106	ENSP00000292401:N109S;ENSP00000396093:N106S	ENSP00000292401:N109S	N	-	2	0	AZGP1	99407316	0.949000	0.32298	0.733000	0.30861	0.035000	0.12851	1.269000	0.33074	0.933000	0.37291	0.260000	0.18958	AAC	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a		0.527	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	protein_coding	OTTHUMT00000059387.4	T	NM_001185	-		99569380	-1	no_errors	ENST00000292401	ensembl	human	known	74_37	missense	SNP	0.932	C	C	99569380	T	C	99569380	3	2	156	1	0	0	0	0	1	0	0	0	1239	1725	60	5	582	5	AZGP1	7	99569380	Missense_Mutation	SNP	T	TCGA-IF-A4AJ-01A-11D-A24N-09	59435352	99569380	59569283	20	11246											
YTHDF3	253943	genome.wustl.edu	37	chr8	64100288	64100288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagcgtcaagaagaggaGgaagccatgcgtagggtaag	16	5	1	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr8:64100288G>A	ENST00000539294.1	+	4	2032	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Silent_p.E383E|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	573							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGAAGAGGAGGAAGCCATGC	0.378																																																	0								ENSG00000185728						23	21	21					8																	64100288		1834	4073	5907	YTHDF3	SO:0001819	synonymous_variant	0			-	HGNC	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1716G>A	8.37:g.64100288G>A		Somatic	0	8	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	B3KXL4|Q63Z37|Q659A3	Silent	SNP	40	0	0	51	22.73	15	pfam_YTH_domain,pfscan_YTH_domain	p.E572	ENST00000539294.1	37	c.1716		8																																																																																			-	NULL		0.378	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	YTHDF3	protein_coding		G	NM_152758	-		64100288	1	no_errors	ENST00000539294	ensembl	human	known	74_37	silent	SNP	1.000	A	A	64100288	G	A	64100288	2	1	156	1	0	0	0	0	0	0	0	1	17507	1000	35	2		2	YTHDF3	8	64100288	Silent	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		64100288	82263734	21	11247											
TMC1	117531	genome.wustl.edu	37	chr9	75309519	75309519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagagcttgagaccaaagaGgaaacggaccagagatgtta	13	6	0	4			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr9:75309519G>C	ENST00000297784.5	+	7	665	c.125G>C	c.(124-126)aGg>aCg	p.R42T	TMC1_ENST00000340019.3_Missense_Mutation_p.R42T|TMC1_ENST00000396237.3_Missense_Mutation_p.R42T	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	42	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGACCAAAGAGGAAACGGACC	0.448																																					Pancreas(75;173 1345 14232 34245 43413)												0								ENSG00000165091						154	142	146					9																	75309519		2202	4300	6502	TMC1	SO:0001583	missense	0			-	HGNC	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.125G>C	9.37:g.75309519G>C	ENSP00000297784:p.Arg42Thr	Somatic	0	28	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	A8MVZ2|B1AM91	Missense_Mutation	SNP	32	0	0	39	7.14	3	pfam_TMC	p.R42T	ENST00000297784.5	37	c.125	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149552	0.78001	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.15834	2.39;2.39;2.39	5.33	5.33	0.75918	.	0.123609	0.53938	D	0.000048	T	0.29749	0.0743	L	0.40543	1.245	0.28220	N	0.926545	P;D	0.54601	0.909;0.967	P;P	0.60789	0.879;0.879	T	0.03773	-1.1005	10	0.36615	T	0.2	-21.8422	15.7578	0.78051	0.0:0.0:1.0:0.0	.	51;42	A4FUA6;Q8TDI8	.;TMC1_HUMAN	T	42;42;51;51;51;36;42	ENSP00000297784:R42T;ENSP00000341433:R42T;ENSP00000379538:R42T	ENSP00000297784:R42T	R	+	2	0	TMC1	74499339	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.196000	0.51020	2.484000	0.83849	0.650000	0.86243	AGG	-	NULL		0.448	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	protein_coding	OTTHUMT00000052655.1	G		-		75309519	1	no_errors	ENST00000297784	ensembl	human	known	74_37	missense	SNP	1.000	C	C	75309519	G	C	75309519	3	2	156	1	0	0	0	0	1	0	0	0	15991	1000	35	4	135	4	TMC1	9	75309519	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		75309519	65903912	22	11248											
SMC2	10592	genome.wustl.edu	37	chr9	106888987	106888987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacatcttacaaacaacaGcttgaagctgtaaatgaagc	6	9	1	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr9:106888987G>A	ENST00000286398.7	+	19	2805	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q	SMC2_ENST00000303219.8_Silent_p.Q839Q|SMC2_ENST00000374787.3_Silent_p.Q839Q|SMC2_ENST00000374793.3_Silent_p.Q839Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	839					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ACAAACAACAGCTTGAAGCTG	0.353																																																	0								ENSG00000136824						82	84	83					9																	106888987		2203	4300	6503	SMC2	SO:0001819	synonymous_variant	0			-	HGNC	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2517G>A	9.37:g.106888987G>A		Somatic	0	43	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	Q6IEE0|Q9P1P2	Silent	SNP	31	0	0	38	24.00	12	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.Q839	ENST00000286398.7	37	c.2517	CCDS35086.1	9																																																																																			-	superfamily_P-loop_NTPase		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	protein_coding	OTTHUMT00000053470.1	G		-		106888987	1	no_errors	ENST00000286398	ensembl	human	known	74_37	silent	SNP	1.000	A	A	106888987	G	A	106888987	2	1	156	1	0	0	0	0	0	0	0	1	14791	962	34	2		2	SMC2	9	106888987	Silent	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	31579468	106888987	34324444	23	11249											
ELP4	26610	genome.wustl.edu	37	chr11	31804979	31804979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgtcagacacagtgagCcgctcaagcaaaatggatct	10	10	3	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr11:31804979C>T	ENST00000350638.5	+	10	1217	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.P442S	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	394					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ACACAGTGAGCCGCTCAAGCA	0.488																																																	0								ENSG00000109911						85	91	89					11																	31804979		1896	4130	6026	ELP4	SO:0001819	synonymous_variant	0			-	HGNC	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1182C>T	11.37:g.31804979C>T		Somatic	0	25	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	45	2.17	1	29	0.00	0	pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase	p.P442S	ENST00000350638.5	37	c.1324	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944681	0.73672	.	.	ENSG00000109911	ENST00000379163	T	0.52295	0.67	5.73	4.82	0.62117	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.80722	D	1	B	0.28350	0.208	B	0.23716	0.048	T	0.10520	-1.0626	7	.	.	.	.	11.0451	0.47855	0.0:0.8578:0.0:0.1422	.	442	B4E3W0	.	S	442	ENSP00000368461:P442S	.	P	+	1	0	ELP4	31761555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.721000	0.38032	1.553000	0.49476	0.557000	0.71058	CCG	-	NULL		0.488	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	protein_coding	OTTHUMT00000286640.1	C	NM_019040	-		31804979	1	no_errors	ENST00000379163	ensembl	human	novel	74_37	missense	SNP	1.000	T	T	31804979	C	T	31804979	2	4	156	1	0	0	0	0	0	0	0	1	5084	738	26	2		2	ELP4	11	31804979	Silent	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09		31804979	103201537	24	11250											
OR5AP2	338675	genome.wustl.edu	37	chr11	56409671	56409671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcatcttgggagtgacgGaagaagagtaagaggcatct	14	7	2	4			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr11:56409671G>A	ENST00000302981.1	-	1	244	c.245C>T	c.(244-246)tCc>tTc	p.S82F	OR5AP2_ENST00000544374.1_Missense_Mutation_p.S83F	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	82						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(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GGGAGTGACGGAAGAAGAGTA	0.458																																																	0								ENSG00000172464						61	62	62					11																	56409671		2201	4296	6497	OR5AP2	SO:0001583	missense	0			-	HGNC	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.245C>T	11.37:g.56409671G>A	ENSP00000303111:p.Ser82Phe	Somatic	0	28	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B2RNM8	Missense_Mutation	SNP	35	0	0	24	36.84	14	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S83F	ENST00000302981.1	37	c.248	CCDS31534.1	11	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536290	0.45176	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00428	7.44;7.44	4.97	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.292311	0.24942	N	0.034365	T	0.00412	0.0013	L	0.54908	1.71	0.09310	N	1	P	0.47604	0.898	P	0.44477	0.451	T	0.52087	-0.8622	10	0.87932	D	0	.	7.9236	0.29861	0.2475:0.0:0.7525:0.0	.	82	Q8NGF4	O5AP2_HUMAN	F	83;82	ENSP00000442701:S83F;ENSP00000303111:S82F	ENSP00000303111:S82F	S	-	2	0	OR5AP2	56166247	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	0.291000	0.18994	1.320000	0.45209	0.637000	0.83480	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	protein_coding	OTTHUMT00000391613.1	G	NM_001002925	-		56409671	-1	no_errors	ENST00000544374	ensembl	human	known	74_37	missense	SNP	0.002	A	A	56409671	G	A	56409671	3	1	156	1	0	0	0	0	1	0	0	0	11146	1174	41	2	709	2	OR5AP2	11	56409671	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	24604692	56409671	78596845	25	11251											
OTUB1	55611	genome.wustl.edu	37	chr11	63764938	63764938	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcgagggcggcaccaccaatCcgcacatcttccctgagggc	12	16	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr11:63764938C>G	ENST00000538426.1	+	7	780	c.736C>G	c.(736-738)Ccg>Gcg	p.P246A	OTUB1_ENST00000422031.2_Missense_Mutation_p.P283A|OTUB1_ENST00000541478.1_Missense_Mutation_p.P145A|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000428192.2_Missense_Mutation_p.P246A|OTUB1_ENST00000543988.1_Missense_Mutation_p.P216A|OTUB1_ENST00000543004.1_Missense_Mutation_p.P255A	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	246	Free ubiquitin binding.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CACCACCAATCCGCACATCTT	0.622																																																	0								ENSG00000167770						117	110	113					11																	63764938		2201	4297	6498	OTUB1	SO:0001583	missense	0			-	HGNC	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.736C>G	11.37:g.63764938C>G	ENSP00000444357:p.Pro246Ala	Somatic	0	46	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	30	0	0	31	29.55	13	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.P283A	ENST00000538426.1	37	c.847	CCDS8055.1	11	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619652	0.03663	.	.	ENSG00000167770	ENST00000541478;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.43	4.52	0.55395	Ovarian tumour, otubain (1);	0.241003	0.41396	D	0.000892	T	0.14485	0.0350	N	0.01482	-0.84	0.30660	N	0.754537	B;B;B;B	0.11235	0.0;0.0;0.004;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.17048	-1.0382	10	0.10636	T	0.68	.	8.4158	0.32670	0.1537:0.7664:0.0:0.0799	.	283;145;290;246	B4DPD5;F5H3F0;Q96FW1-2;Q96FW1	.;.;.;OTUB1_HUMAN	A	145;246;283;246;255;216	ENSP00000439142:P145A;ENSP00000402551:P246A;ENSP00000416973:P283A;ENSP00000444357:P246A;ENSP00000437453:P255A;ENSP00000441328:P216A	ENSP00000416973:P283A	P	+	1	0	OTUB1	63521514	1.000000	0.71417	0.716000	0.30569	0.047000	0.14425	3.621000	0.54210	1.426000	0.47256	0.655000	0.94253	CCG	-	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU		0.622	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUB1	protein_coding	OTTHUMT00000396277.1	C	NM_017670	-		63764938	1	no_errors	ENST00000422031	ensembl	human	known	74_37	missense	SNP	1.000	G	G	63764938	C	G	63764938	3	3	156	1	0	0	0	0	1	0	0	0	11313	855	30	4	762	4	OTUB1	11	63764938	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	7355267	63764938	71241578	26	11252											
NADSYN1	55191	genome.wustl.edu	37	chr11	71164372	71164372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaccgtggccacctgCgcactcaaccagtgggccct	12	15	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr11:71164372C>T	ENST00000319023.2	+	1	218	c.30C>T	c.(28-30)tgC>tgT	p.C10C	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	10	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TGGCCACCTGCGCACTCAACC	0.667																																					Ovarian(79;763 1781 6490 50276)												0								ENSG00000172890						38	37	38					11																	71164372		2200	4293	6493	NADSYN1	SO:0001819	synonymous_variant	0			-	HGNC	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.30C>T	11.37:g.71164372C>T		Somatic	0	63	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	80	29.57	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	29	0	0	34	27.66	13	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.C10	ENST00000319023.2	37	c.30	CCDS8201.1	11																																																																																			-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase		0.667	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	protein_coding	OTTHUMT00000394356.1	C	NM_018161	-		71164372	1	no_errors	ENST00000319023	ensembl	human	known	74_37	silent	SNP	1.000	T	T	71164372	C	T	71164372	2	4	156	1	0	0	0	0	0	0	0	1	10140	776	27	1		1	NADSYN1	11	71164372	Silent	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	7399434	71164372	63842144	27	11253											
TYR	7299	genome.wustl.edu	37	chr11	88911582	88911582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactatgtcatccccatagGgacctatggccaaatgaaaa	8	10	1	2	rs200471520		TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr11:88911582G>A	ENST00000263321.5	+	1	963	c.461G>A	c.(460-462)gGg>gAg	p.G154E	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	154					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATCCCCATAGGGACCTATGGC	0.403													G|||	1	0.000199681	0	0	5008	,	,		21568	0.001		0	False		,,,				2504	0																0								ENSG00000077498						155	147	150					11																	88911582		2201	4299	6500	TYR	SO:0001583	missense	0			GMAF=0.0005	HGNC	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.461G>A	11.37:g.88911582G>A	ENSP00000263321:p.Gly154Glu	Somatic	0	34	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	34	0	0	41	22.64	12	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.G154E	ENST00000263321.5	37	c.461	CCDS8284.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.44	3.125230	0.56721	.	.	ENSG00000077498	ENST00000263321	D	0.83673	-1.75	5.97	5.97	0.96955	Uncharacterised domain, di-copper centre (2);	0.042698	0.85682	D	0.000000	D	0.86289	0.5897	M	0.76328	2.33	0.58432	D	0.999999	P	0.49358	0.923	P	0.45794	0.493	D	0.85729	0.1330	9	.	.	.	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	154	P14679	TYRO_HUMAN	E	154	ENSP00000263321:G154E	.	G	+	2	0	TYR	88551230	1.000000	0.71417	0.979000	0.43373	0.541000	0.35023	7.396000	0.79891	2.828000	0.97474	0.655000	0.94253	GGG	-	superfamily_Unchr_di-copper_centre		0.403	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	protein_coding	OTTHUMT00000394045.2	G	NM_000372	rs200471520		88911582	1	no_errors	ENST00000263321	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88911582	G	A	88911582	3	1	156	1	0	0	0	0	1	0	0	0	16820	1232	43	2	463	2	TYR	11	88911582	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	17747210	88911582	46094934	28	11254											
OR4D5	219875	genome.wustl.edu	37	chr11	123810923	123810923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttagagcttttaatggtGtctaacaatggcctggtgac	11	7	2	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr11:123810923G>A	ENST00000307033.2	+	1	674	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTTTAATGGTGTCTAACAATG	0.502																																																	0								ENSG00000171014						251	238	242					11																	123810923		2202	4299	6501	OR4D5	SO:0001819	synonymous_variant	0			-	HGNC	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.600G>A	11.37:g.123810923G>A		Somatic	0	54	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B9EGZ4|Q6IFE6	Silent	SNP	29	0	0	32	31.91	15	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V200	ENST00000307033.2	37	c.600	CCDS31699.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	protein_coding	OTTHUMT00000387263.1	G	NM_001001965	-		123810923	1	no_errors	ENST00000307033	ensembl	human	known	74_37	silent	SNP	0.346	A	A	123810923	G	A	123810923	2	1	156	1	0	0	0	0	0	0	0	1	11059	1364	48	2		2	OR4D5	11	123810923	Silent	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	34899341	123810923	11195593	29	11255											
CACNA2D4	93589	genome.wustl.edu	37	chr12	1988202	1988202	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaatgccatgggatcGctggaaggaaagacacaagg	15	7	0	2	rs572396211		TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr12:1988202G>A	ENST00000382722.5	-	15	1926	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	CACNA2D4_ENST00000585708.1_Splice_Site_p.R458*|CACNA2D4_ENST00000586184.1_Splice_Site_p.R522*|CACNA2D4_ENST00000588077.1_Splice_Site_p.R458*|CACNA2D4_ENST00000587995.1_Splice_Site_p.R522*|CACNA2D4_ENST00000585732.1_Splice_Site_p.R407*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	522	Cache.				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)		CCATGGGATCGCTGGAAGGAA	0.607																																					Colon(2;101 179 21030 23310 28141)												0								ENSG00000151062						39	44	42					12																	1988202		2000	4163	6163	CACNA2D4	SO:0001630	splice_region_variant	0			-	HGNC	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.1564-1C>T	12.37:g.1988202G>A		Somatic	0	20	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	32	0	0	32	33.33	16	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R522*	ENST00000382722.5	37	c.1564	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.749322	0.98468	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.23	-2.27	0.06846	.	0.061153	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4151	0.87497	0.0:0.0:0.3435:0.6565	.	.	.	.	X	458;522;522	.	ENSP00000280663:R522X	R	-	1	2	CACNA2D4	1858463	0.745000	0.28261	0.860000	0.33809	0.946000	0.59487	-0.171000	0.09883	-0.256000	0.09473	0.655000	0.94253	CGA	-	pfam_Cache_domain		0.607	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	protein_coding	OTTHUMT00000398230.2	G		-	Nonsense_Mutation	1988202	-1	no_errors	ENST00000382722	ensembl	human	known	74_37	nonsense	SNP	0.793	A	A	1988202	G	A	1988202	5	1	156	1	0	0	0	0	0	0	1	0	2553	1101	38	1	1945	1	CACNA2D4	12	1988202	Splice_Site	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		1988202	131863693	30	11256											
YARS2	51067	genome.wustl.edu	37	chr12	32908155	32908155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcacctggtaaaagaaCtcggccaagctcatgccctc	10	13	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr12:32908155C>A	ENST00000324868.8	-	1	681	c.654G>T	c.(652-654)gaG>gaT	p.E218D		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	218					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGTAAAAGAACTCGGCCAAGC	0.602											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139131						74	81	79					12																	32908155		2203	4300	6503	YARS2	SO:0001583	missense	0			-	HGNC	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.654G>T	12.37:g.32908155C>A	ENSP00000320658:p.Glu218Asp	Somatic	0	51	0	836	0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	D3DUW8|Q9H817	Missense_Mutation	SNP	34	0	0	40	23.08	12	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.E218D	ENST00000324868.8	37	c.654	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069589	0.76301	.	.	ENSG00000139131	ENST00000324868	T	0.56941	0.43	5.09	3.24	0.37175	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.165303	0.53938	D	0.000045	T	0.74589	0.3736	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76788	-0.2830	10	0.87932	D	0	-1.3071	9.2659	0.37641	0.0:0.7584:0.0:0.2416	.	218	Q9Y2Z4	SYYM_HUMAN	D	218	ENSP00000320658:E218D	ENSP00000320658:E218D	E	-	3	2	YARS2	32799422	1.000000	0.71417	0.981000	0.43875	0.938000	0.57974	1.709000	0.37909	0.687000	0.31509	-0.212000	0.12691	GAG	-	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase		0.602	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	protein_coding	OTTHUMT00000404153.1	C	NM_015936	-		32908155	-1	no_errors	ENST00000324868	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32908155	C	A	32908155	3	1	156	1	0	0	0	0	1	0	0	0	17475	564	20	3	799	3	YARS2	12	32908155	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	30919953	32908155	100943740	31	11257											
RB1	5925	genome.wustl.edu	37	chr13	48953730	48953730	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	9	6	1	0	rs3092891	byFrequency	TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	ENSG00000139687						18	19	19					13																	48953730		2200	4300	6500	RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		Somatic	0	52	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	12	76.00	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	33	0	0	6	77.78	21	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R445*	ENST00000267163.4	37	c.1333	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA	-	pfam_RB_A,superfamily_Cyclin-like		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		rs3092891	Nonsense_Mutation	48953730	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48953730	C	T	48953730	5	4	156	1	0	0	0	0	0	0	1	0	13106	782	27	1	1387	1	RB1	13	48953730	Splice_Site	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09		48953730	66216148	32	11258											
AKAP6	9472	genome.wustl.edu	37	chr14	33015886	33015886	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaactgtctgaaatgaattCagattctgaaatctatccaa	7	7	4	4			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr14:33015886C>G	ENST00000280979.4	+	4	2197	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.S676*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.S676*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	676					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAATGAATTCAGATTCTGAA	0.428																																					Melanoma(49;821 1200 7288 13647 42351)												0								ENSG00000151320						98	97	97					14																	33015886		2203	4300	6503	AKAP6	SO:0001587	stop_gained	0			-	HGNC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2027C>G	14.37:g.33015886C>G	ENSP00000280979:p.Ser676*	Somatic	0	15	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	33	0	0	34	39.29	22	smart_Spectrin/alpha-actinin	p.S676*	ENST00000280979.4	37	c.2027	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.551497	0.98352	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.2338	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	676	.	ENSP00000280979:S676X	S	+	2	0	AKAP6	32085637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.149000	0.58091	2.941000	0.99782	0.655000	0.94253	TCA	-	NULL		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	C	NM_004274	-		33015886	1	no_errors	ENST00000280979	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	33015886	C	G	33015886	4	3	156	1	0	0	0	0	0	1	0	0	455	838	29	4	2037	4	AKAP6	14	33015886	Nonsense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09		33015886	74333654	33	11259											
JMJD7	100137047	genome.wustl.edu	37	chr15	42120356	42120356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctttggaagccgtgcggagcGagttacgagaattcccggcc	14	11	0	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr15:42120356G>C	ENST00000397299.4	+	1	74	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E12Q|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.E12Q|JMJD7_ENST00000405106.2_3'UTR|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E12Q|JMJD7_ENST00000408047.1_5'UTR	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	12										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CGTGCGGAGCGAGTTACGAGA	0.706																																																	0								ENSG00000168970						16	19	18					15																	42120356		2199	4298	6497	JMJD7-PLA2G4B	SO:0001583	missense	0			-	HGNC		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.34G>C	15.37:g.42120356G>C	ENSP00000380467:p.Glu12Gln	Somatic	0	38	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	8	0	0	28	20.00	7	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.E12Q	ENST00000397299.4	37	c.34	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	17.68	3.448325	0.63178	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.30448	1.53;1.53;5.12;4.81	4.98	0.272	0.15645	.	0.641843	0.13573	N	0.377923	T	0.18341	0.0440	L	0.40543	1.245	0.20821	N	0.999841	B;P;B	0.41393	0.006;0.748;0.29	B;B;B	0.38985	0.007;0.287;0.073	T	0.11616	-1.0580	10	0.19147	T	0.46	-7.5476	2.715	0.05185	0.1764:0.2697:0.4293:0.1246	.	12;12;12	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	Q	12	ENSP00000380467:E12Q;ENSP00000441905:E12Q;ENSP00000371886:E12Q;ENSP00000342785:E12Q	ENSP00000380467:E12Q	E	+	1	0	JMJD7-PLA2G4B;JMJD7	39907648	0.423000	0.25482	0.522000	0.27862	0.476000	0.33039	0.549000	0.23329	0.129000	0.18514	0.561000	0.74099	GAG	-	NULL		0.706	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	protein_coding	OTTHUMT00000326082.1	G	NM_001114632	-		42120356	1	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	SNP	0.000	C	C	42120356	G	C	42120356	3	2	156	1	0	0	0	0	1	0	0	0	7956	1059	37	4	36	4	JMJD7	15	42120356	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		42120356	60411036	34	11260											
ZSCAN29	146050	genome.wustl.edu	37	chr15	43656522	43656522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggagggcttcataaaaCtgggtctcactaagaattgc	10	9	2	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr15:43656522C>T	ENST00000396976.2	-	4	1415	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Silent_p.Q426Q	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	427					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTCATAAAACTGGGTCTCAC	0.493																																																	0								ENSG00000140265						89	85	86					15																	43656522		2201	4299	6500	ZSCAN29	SO:0001819	synonymous_variant	0			-	HGNC	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1281G>A	15.37:g.43656522C>T		Somatic	0	78	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	79	14.89	B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	30	0	0	48	18.64	11	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q427	ENST00000396976.2	37	c.1281	CCDS10095.2	15																																																																																			-	NULL		0.493	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	protein_coding	OTTHUMT00000253278.1	C	NM_152455	-		43656522	-1	no_errors	ENST00000396976	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43656522	C	T	43656522	2	4	156	1	0	0	0	0	0	0	0	1	18243	564	20	2		2	ZSCAN29	15	43656522	Silent	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	1536166	43656522	58874870	35	11261											
ITGAD	3681	genome.wustl.edu	37	chr16	31409218	31409218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcatccagacagtccccGacgccacgccaggtaggtcc	10	16	1	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr16:31409218G>A	ENST00000389202.2	+	5	464	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	139					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGTCCCCGACGCCACGCC	0.647																																																	0								ENSG00000156886						30	26	27					16																	31409218		2197	4300	6497	ITGAD	SO:0001583	missense	0			-	HGNC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.415G>A	16.37:g.31409218G>A	ENSP00000373854:p.Asp139Asn	Somatic	0	51	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	76	13.64	Q15575|Q15576	Missense_Mutation	SNP	27	0	0	44	22.81	13	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.D139N	ENST00000389202.2	37	c.415	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	7.713	0.695643	0.15106	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.58506	0.33	3.73	2.78	0.32641	.	.	.	.	.	T	0.30103	0.0754	N	0.08118	0	0.09310	N	1	P;P;B	0.44578	0.838;0.458;0.312	B;B;B	0.35353	0.201;0.067;0.067	T	0.08186	-1.0734	9	0.51188	T	0.08	.	5.414	0.16363	0.1145:0.2059:0.6796:0.0	.	139;155;139	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	N	155;139	ENSP00000373854:D139N	ENSP00000373854:D139N	D	+	1	0	ITGAD	31316719	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.139000	0.10358	0.893000	0.36288	0.563000	0.77884	GAC	-	NULL		0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	G	NM_005353	-		31409218	1	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	SNP	0.002	A	A	31409218	G	A	31409218	3	1	156	1	0	0	0	0	1	0	0	0	7886	1058	37	1	433	1	ITGAD	16	31409218	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		31409218	58945535	36	11262											
HYDIN	54768	genome.wustl.edu	37	chr16	70902531	70902531	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtacgtccacccacttgactGtgtgcatgcggtcatcccag	10	14	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr16:70902531G>C	ENST00000393567.2	-	66	11402	c.11252C>G	c.(11251-11253)aCa>aGa	p.T3751R	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3751					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)				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)				CCACTTGACTGTGTGCATGCG	0.522																																																	0								ENSG00000157423						62	59	60					16																	70902531		1930	4130	6060	HYDIN	SO:0001583	missense	0			-	HGNC	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.11252C>G	16.37:g.70902531G>C	ENSP00000377197:p.Thr3751Arg	Somatic	0	98	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	73	23.96	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	22	0	0	15	28.57	6	superfamily_P-loop_NTPase,superfamily_PapD-like	p.T3751R	ENST00000393567.2	37	c.11252	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792792	0.70452	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00995	5.46	5.03	4.07	0.47477	.	0.000000	0.33792	U	0.004557	T	0.04137	0.0115	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.43925	-0.9361	10	0.46703	T	0.11	.	12.4939	0.55916	0.0824:0.0:0.9176:0.0	.	3750	F8WD23	.	R	3751;3750	ENSP00000377197:T3751R	ENSP00000313052:T3750R	T	-	2	0	HYDIN	69460032	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	5.087000	0.64480	2.327000	0.79052	0.511000	0.50034	ACA	-	NULL		0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G		-		70902531	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.998	C	C	70902531	G	C	70902531	3	2	156	1	0	0	0	0	1	0	0	0	7469	1377	48	4	4197	4	HYDIN	16	70902531	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	39493313	70902531	19452222	37	11263											
SLC13A5	284111	genome.wustl.edu	37	chr17	6606359	6606359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtgcccccgatgctggCcgcgtagcagatgcacaggg	17	13	0	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr17:6606359C>T	ENST00000433363.2	-	5	879	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SLC13A5_ENST00000293800.6_Missense_Mutation_p.A199T|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A173T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A216T	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	216					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCGATGCTGGCCGCGTAGCAG	0.617																																																	0								ENSG00000141485						140	114	123					17																	6606359		2203	4300	6503	SLC13A5	SO:0001583	missense	0			-	HGNC	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.646G>A	17.37:g.6606359C>T	ENSP00000406220:p.Ala216Thr	Somatic	0	74	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	70	34.58	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	13	0	0	35	43.55	27	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.A216T	ENST00000433363.2	37	c.646	CCDS11079.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332529	0.81801	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.02737	4.18;4.18	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	M	0.94101	3.495	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;0.996;0.998;0.998;0.998	T	0.05131	-1.0904	10	0.87932	D	0	.	17.1977	0.86898	0.0:1.0:0.0:0.0	.	216;173;173;199;216	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	T	216;216;173	ENSP00000406220:A216T;ENSP00000370464:A173T	ENSP00000293800:A216T	A	-	1	0	SLC13A5	6547083	1.000000	0.71417	0.971000	0.41717	0.148000	0.21650	5.588000	0.67517	2.746000	0.94184	0.561000	0.74099	GCC	-	pfam_Na/sul_symport		0.617	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	protein_coding	OTTHUMT00000219853.2	C	NM_177550	-		6606359	-1	no_errors	ENST00000433363	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6606359	C	T	6606359	3	4	156	1	0	0	0	0	1	0	0	0	14403	739	26	2	1092	2	SLC13A5	17	6606359	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09		6606359	74588851	38	11264											
ALOX12	239	genome.wustl.edu	37	chr17	6913105	6913105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagagtcaactctgccAtttcctcaccatgtgcgtct	7	15	4	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr17:6913105A>G	ENST00000251535.6	+	12	1633	c.1580A>G	c.(1579-1581)cAt>cGt	p.H527R	AC027763.2_ENST00000573939.1_Intron|RNASEK_ENST00000548577.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|RNASEK_ENST00000402093.1_5'Flank|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	527	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAACTCTGCCATTTCCTCACC	0.547																																																	0								ENSG00000108839						139	117	124					17																	6913105		2203	4300	6503	ALOX12	SO:0001583	missense	0			-	HGNC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1580A>G	17.37:g.6913105A>G	ENSP00000251535:p.His527Arg	Somatic	0	53	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	56	36.36	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	26	0	0	36	40.00	24	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.H527R	ENST00000251535.6	37	c.1580	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494755	0.26774	.	.	ENSG00000108839	ENST00000251535	T	0.06218	3.33	5.28	4.2	0.49525	Lipoxygenase, C-terminal (3);	0.132515	0.51477	D	0.000093	T	0.05227	0.0139	L	0.35542	1.07	0.35859	D	0.827347	B	0.22800	0.075	B	0.19666	0.026	T	0.35176	-0.9799	10	0.17369	T	0.5	-4.4808	9.3901	0.38367	0.916:0.0:0.084:0.0	.	527	P18054	LOX12_HUMAN	R	527	ENSP00000251535:H527R	ENSP00000251535:H527R	H	+	2	0	ALOX12	6853829	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.795000	0.62489	1.025000	0.39708	0.460000	0.39030	CAT	-	pfam_LipOase_C,superfamily_LipOase_C		0.547	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	protein_coding	OTTHUMT00000219922.2	A		-		6913105	1	no_errors	ENST00000251535	ensembl	human	known	74_37	missense	SNP	0.983	G	G	6913105	A	G	6913105	3	3	156	1	0	0	0	0	1	0	0	0	536	217	8	5	1626	5	ALOX12	17	6913105	Missense_Mutation	SNP	A	TCGA-IF-A4AJ-01A-11D-A24N-09	306746	6913105	74282105	39	11265											
PFAS	5198	genome.wustl.edu	37	chr17	8167128	8167128	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgccctggaaatctgGggggctgagtaccaggaatc	14	9	1	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr17:8167128G>A	ENST00000314666.6	+	15	1798	c.1665G>A	c.(1663-1665)tgG>tgA	p.W555*	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Nonsense_Mutation_p.W131*	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	555					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TGGAAATCTGGGGGGCTGAGT	0.602																																																	0								ENSG00000178921						68	69	69					17																	8167128		2203	4300	6503	PFAS	SO:0001587	stop_gained	0			-	HGNC	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1665G>A	17.37:g.8167128G>A	ENSP00000313490:p.Trp555*	Somatic	0	77	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	68	21.59	A6H8V8	Nonsense_Mutation	SNP	25	0	0	38	26.92	14	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.W555*	ENST00000314666.6	37	c.1665	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.904652	0.98554	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	.	.	.	5.84	5.84	0.93424	.	0.063315	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.304	17.6372	0.88125	0.0:0.0:1.0:0.0	.	.	.	.	X	131;555	.	ENSP00000313490:W555X	W	+	3	0	PFAS	8107853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.531000	0.90610	2.769000	0.95229	0.563000	0.77884	TGG	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth		0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	protein_coding	OTTHUMT00000226994.2	G		-		8167128	1	no_errors	ENST00000314666	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	8167128	G	A	8167128	4	1	156	1	0	0	0	0	0	1	0	0	11756	1241	43	2	1719	2	PFAS	17	8167128	Nonsense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	1254023	8167128	73028082	40	11266											
HDAC5	10014	genome.wustl.edu	37	chr17	42170476	42170476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagcatttggggtgctGtgggagggaatggttgaggc	18	5	0	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr17:42170476G>T	ENST00000393622.2	-	6	956	c.625C>A	c.(625-627)Cag>Aag	p.Q209K	HDAC5_ENST00000225983.6_Missense_Mutation_p.Q210K|HDAC5_ENST00000586802.1_Missense_Mutation_p.Q209K|HDAC5_ENST00000336057.5_Missense_Mutation_p.Q209K	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	209					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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 kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTGGGGTGCTGTGGGAGGGAA	0.602																																																	0								ENSG00000108840						65	72	69					17																	42170476		2203	4300	6503	HDAC5	SO:0001583	missense	0			-	HGNC	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.625C>A	17.37:g.42170476G>T	ENSP00000377244:p.Gln209Lys	Somatic	0	55	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	18	0	0	35	0.00	0	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.Q210K	ENST00000393622.2	37	c.628	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295822	0.40594	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.42131	0.99;0.99;0.98	4.37	4.37	0.52481	.	0.203317	0.35772	N	0.002996	T	0.55832	0.1945	L	0.50333	1.59	0.48696	D	0.999698	P;P;P;P	0.52577	0.954;0.924;0.593;0.458	D;P;P;P	0.65140	0.932;0.857;0.828;0.678	T	0.51124	-0.8745	10	0.30854	T	0.27	-14.6595	15.8174	0.78615	0.0:0.0:1.0:0.0	.	209;209;210;209	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	K	210;209;209	ENSP00000225983:Q210K;ENSP00000377244:Q209K;ENSP00000337290:Q209K	ENSP00000225983:Q210K	Q	-	1	0	HDAC5	39526002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.799000	0.62517	2.267000	0.75376	0.561000	0.74099	CAG	-	pirsf_Histone_deAcase_II_euk		0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	protein_coding	OTTHUMT00000457686.1	G	NM_001015053	-		42170476	-1	no_errors	ENST00000225983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42170476	G	T	42170476	3	4	156	1	0	0	0	0	1	0	0	0	7012	1386	48	3	2831	3	HDAC5	17	42170476	Missense_Mutation	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	34003348	42170476	39024734	41	11267											
NPLOC4	55666	genome.wustl.edu	37	chr17	79563206	79563206	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagagagccggcacatgttGggatgcttgttctggaagtc	16	7	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr17:79563206G>T	ENST00000331134.6	-	11	1271	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	NPLOC4_ENST00000539314.1_Silent_p.P191P|NPLOC4_ENST00000374747.5_Silent_p.P352P	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	352					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCACATGTTGGGATGCTTGT	0.438																																																	0								ENSG00000182446						105	104	105					17																	79563206		1898	4116	6014	NPLOC4	SO:0001819	synonymous_variant	0			-	HGNC	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1056C>A	17.37:g.79563206G>T		Somatic	0	44	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	27	0	0	40	0.00	0	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.P352	ENST00000331134.6	37	c.1056	CCDS45812.1	17																																																																																			-	pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4		0.438	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	protein_coding	OTTHUMT00000440140.1	G		-		79563206	-1	no_errors	ENST00000374747	ensembl	human	known	74_37	silent	SNP	1.000	T	T	79563206	G	T	79563206	2	4	156	1	0	0	0	0	0	0	0	1	10588	1335	47	3		3	NPLOC4	17	79563206	Silent	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09	37392730	79563206	1632004	42	11268											
THOC1	9984	genome.wustl.edu	37	chr18	215471	215471	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattatcttcctcatcttCatcctcacctgtttttattt	1	12	6	0			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr18:215471C>T	ENST00000261600.6	-	20	1643	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	546					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCCTCATCTTCATCCTCACCT	0.343																																																	0								ENSG00000079134						139	123	128					18																	215471		1852	4094	5946	THOC1	SO:0001583	missense	0			-	HGNC	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1636G>A	18.37:g.215471C>T	ENSP00000261600:p.Glu546Lys	Somatic	0	31	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	40	25.93	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	34	0	0	52	24.64	17	pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	p.E546K	ENST00000261600.6	37	c.1636	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111215	0.56398	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.44	5.44	0.79542	.	0.049423	0.85682	D	0.000000	T	0.45216	0.1331	N	0.20685	0.6	0.58432	D	0.999999	P	0.35493	0.505	B	0.37015	0.239	T	0.33548	-0.9864	9	0.16420	T	0.52	-17.9489	18.2487	0.89996	0.0:1.0:0.0:0.0	.	546	Q96FV9	THOC1_HUMAN	K	546	.	ENSP00000261600:E546K	E	-	1	0	THOC1	205471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.317000	0.72862	2.560000	0.86352	0.563000	0.77884	GAA	-	NULL		0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	protein_coding	OTTHUMT00000440348.5	C	NM_005131	-		215471	-1	no_errors	ENST00000261600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	215471	C	T	215471	3	4	156	1	0	0	0	0	1	0	0	0	15871	835	29	2	345	2	THOC1	18	215471	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09		215471	77861777	43	11269											
DLGAP1	9229	genome.wustl.edu	37	chr18	3879582	3879582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccttgcccccgttgaCgctgcccttggacggcccct	12	18	0	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr18:3879582C>T	ENST00000315677.3	-	4	1082	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	DLGAP1_ENST00000581527.1_Missense_Mutation_p.V163I|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.V163I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V163I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	163					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCCCCGTTGACGCTGCCCTTG	0.716																																																	0								ENSG00000170579						54	65	61					18																	3879582		2203	4299	6502	DLGAP1	SO:0001583	missense	0			-	HGNC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.487G>A	18.37:g.3879582C>T	ENSP00000316377:p.Val163Ile	Somatic	0	42	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	23	0	0	28	34.88	15	pfam_GKAP	p.V163I	ENST00000315677.3	37	c.487	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706466	0.30232	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.16743	2.32;2.32	5.75	2.49	0.30216	.	0.358888	0.31427	N	0.007674	T	0.10937	0.0267	L	0.29908	0.895	0.32176	N	0.580964	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.12889	-1.0530	10	0.25751	T	0.34	-22.8096	8.4744	0.33005	0.0:0.6726:0.1241:0.2033	.	163;163;163	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	I	163	ENSP00000316377:V163I;ENSP00000445973:V163I	ENSP00000316377:V163I	V	-	1	0	DLGAP1	3869582	0.978000	0.34361	0.998000	0.56505	0.994000	0.84299	0.320000	0.19540	0.754000	0.32968	0.655000	0.94253	GTC	-	NULL		0.716	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	protein_coding	OTTHUMT00000254394.4	C		-		3879582	-1	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	SNP	0.993	T	T	3879582	C	T	3879582	3	4	156	1	0	0	0	0	1	0	0	0	4561	536	19	1	2541	1	DLGAP1	18	3879582	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	3664111	3879582	74197666	44	11270											
SLMO1	10650	genome.wustl.edu	37	chr18	12427223	12427223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctcttttgcaggacCgtgctcacacaagaagccat	8	12	3	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr18:12427223C>T	ENST00000440960.1	+	5	446	c.366C>T	c.(364-366)acC>acT	p.T122T	SLMO1_ENST00000592149.1_Silent_p.T101T|SLMO1_ENST00000590956.1_Silent_p.T32T|SLMO1_ENST00000587735.1_Silent_p.T32T|SLMO1_ENST00000336990.4_Silent_p.T122T	NM_001142405.1	NP_001135877.1	Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	122	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)	1						TTTGCAGGACCGTGCTCACAC	0.498																																																	0								ENSG00000141391						121	106	111					18																	12427223		2203	4300	6503	SLMO1	SO:0001819	synonymous_variant	0			-	HGNC	AK056046	CCDS11860.1	18p11.21	2007-02-20	2007-02-06	2007-02-06	ENSG00000141391	ENSG00000141391			24639	protein-coding gene	gene with protein product	"erythroid differentiation and denucleation factor 1"		"chromosome 18 open reading frame 43"	C18orf43			Standard	NM_006553		Approved	HFL-EDDG1, FLJ31484, PRELID3A	uc010wzu.2	Q96N28	OTTHUMG00000131694	ENST00000440960.1:c.366C>T	18.37:g.12427223C>T		Somatic	0	92	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	46	55.77	B0YJ10|B4E0C9|D3DUJ1|Q6AHX2	Silent	SNP	21	0	0	26	49.02	25	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	p.T122	ENST00000440960.1	37	c.366	CCDS11860.1	18																																																																																			-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.498	SLMO1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLMO1	protein_coding	OTTHUMT00000254602.2	C	NM_006553	-		12427223	1	no_errors	ENST00000336990	ensembl	human	known	74_37	silent	SNP	0.027	T	T	12427223	C	T	12427223	2	4	156	1	0	0	0	0	0	0	0	1	14758	639	23	1		1	SLMO1	18	12427223	Silent	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	8547641	12427223	65650025	45	11271											
SETBP1	26040	genome.wustl.edu	37	chr18	42530827	42530827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtcatgacacctccaAcgtgcacagatcactctcca	6	16	3	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr18:42530827A>G	ENST00000282030.5	+	4	1818	c.1522A>G	c.(1522-1524)Acg>Gcg	p.T508A		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	508						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)		GACACCTCCAACGTGCACAGA	0.512									Schinzel-Giedion syndrome																																								0								ENSG00000152217						77	76	76					18																	42530827		2203	4300	6503	SETBP1	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	-	HGNC	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.1522A>G	18.37:g.42530827A>G	ENSP00000282030:p.Thr508Ala	Somatic	0	38	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	28	0	0	18	45.45	15	smart_AT_hook_DNA-bd_motif	p.T508A	ENST00000282030.5	37	c.1522	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	1.283	-0.609690	0.03690	.	.	ENSG00000152217	ENST00000282030	T	0.68181	-0.31	6.08	-2.61	0.06171	.	0.931883	0.09236	N	0.829920	T	0.36276	0.0961	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.09084	T	0.74	.	0.926	0.01324	0.4453:0.1549:0.2194:0.1804	.	508	Q9Y6X0	SETBP_HUMAN	A	508	ENSP00000282030:T508A	ENSP00000282030:T508A	T	+	1	0	SETBP1	40784825	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-0.086000	0.11233	-0.080000	0.12685	0.533000	0.62120	ACG	-	NULL		0.512	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	protein_coding	OTTHUMT00000255854.4	A	NM_001130110	-		42530827	1	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	SNP	0.000	G	G	42530827	A	G	42530827	3	3	156	1	0	0	0	0	1	0	0	0	14137	43	2	5	1725	5	SETBP1	18	42530827	Missense_Mutation	SNP	A	TCGA-IF-A4AJ-01A-11D-A24N-09	30103604	42530827	35546421	46	11272											
WDR7	23335	genome.wustl.edu	37	chr18	54605777	54605777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtaggtacacagacataCggctcttgcagcaaataccc	8	11	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr18:54605777C>T	ENST00000254442.3	+	24	4056	c.3845C>T	c.(3844-3846)aCg>aTg	p.T1282M	WDR7_ENST00000357574.3_Missense_Mutation_p.T1249M|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1282					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CACAGACATACGGCTCTTGCA	0.348																																																	0								ENSG00000091157						92	85	87					18																	54605777		2203	4300	6503	WDR7	SO:0001583	missense	0			-	HGNC	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3845C>T	18.37:g.54605777C>T	ENSP00000254442:p.Thr1282Met	Somatic	0	33	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	36	0	0	24	40.00	16	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1282M	ENST00000254442.3	37	c.3845	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591866	0.46214	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.42900	0.96;0.96	5.99	5.99	0.97316	.	0.095167	0.64402	D	0.000001	T	0.46889	0.1416	N	0.24115	0.695	0.42178	D	0.991674	D;D	0.64830	0.994;0.989	P;P	0.53861	0.736;0.548	T	0.45818	-0.9235	10	0.66056	D	0.02	.	20.0728	0.97731	0.0:1.0:0.0:0.0	.	1249;1282	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	M	1282;1249;607;1249	ENSP00000254442:T1282M;ENSP00000350187:T1249M	ENSP00000254442:T1282M	T	+	2	0	WDR7	52756775	1.000000	0.71417	0.270000	0.24601	0.307000	0.27823	5.935000	0.70145	2.840000	0.97914	0.655000	0.94253	ACG	-	superfamily_ARM-type_fold		0.348	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	protein_coding	OTTHUMT00000256062.1	C		-		54605777	1	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	SNP	0.951	T	T	54605777	C	T	54605777	3	4	156	1	0	0	0	0	1	0	0	0	17327	536	19	1	3935	1	WDR7	18	54605777	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	12074950	54605777	23471471	47	11273											
CCDC130	81576	genome.wustl.edu	37	chr19	13869915	13869915	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagctctgatcgttgcagaGcatgagaagaagcagaagct	13	8	1	5			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr19:13869915G>T	ENST00000586600.1	+	9	905	c.402G>T	c.(400-402)gaG>gaT	p.E134D	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Splice_Site_p.E134D			P13994	CC130_HUMAN	coiled-coil domain containing 130	134					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCGTTGCAGAGCATGAGAAGA	0.657																																																	0								ENSG00000104957						25	26	25					19																	13869915		2203	4298	6501	CCDC130	SO:0001630	splice_region_variant	0			-	HGNC	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.401-1G>T	19.37:g.13869915G>T		Somatic	0	47	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q9BQ72	Missense_Mutation	SNP	27	0	0	39	0.00	0	pfam_CWC16	p.E134D	ENST00000586600.1	37	c.402	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224824	0.22457	.	.	ENSG00000104957	ENST00000221554	T	0.32753	1.44	5.27	2.01	0.26516	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	L	0.41573	1.285	0.80722	D	1	B;B	0.23937	0.053;0.094	B;B	0.25291	0.059;0.04	T	0.06734	-1.0810	10	0.13108	T	0.6	.	7.1288	0.25488	0.3576:0.0:0.6424:0.0	.	134;134	B3KUZ1;P13994	.;CC130_HUMAN	D	134	ENSP00000221554:E134D	ENSP00000221554:E134D	E	+	3	2	CCDC130	13730915	1.000000	0.71417	0.993000	0.49108	0.620000	0.37586	1.403000	0.34612	0.242000	0.21303	-0.254000	0.11334	GAG	-	pfam_CWC16		0.657	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	protein_coding	OTTHUMT00000453216.2	G	NM_030818	-	Missense_Mutation	13869915	1	no_errors	ENST00000221554	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13869915	G	T	13869915	5	4	156	1	0	0	0	0	0	0	1	0	2768	985	34	3	428	3	CCDC130	19	13869915	Splice_Site	SNP	G	TCGA-IF-A4AJ-01A-11D-A24N-09		13869915	45259068	48	11274											
CD22	933	genome.wustl.edu	37	chr19	35832259	35832259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagatgccccccgagaCgtgagggtccggaaaatcaa	11	14	1	3			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr19:35832259C>T	ENST00000085219.5	+	8	1587	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CD22_ENST00000341773.6_Silent_p.D330D|CD22_ENST00000536635.2_Silent_p.D419D|CD22_ENST00000270311.6_Silent_p.D387D|CD22_ENST00000594250.1_Silent_p.D330D|CD22_ENST00000419549.2_Silent_p.D335D|CD22_ENST00000544992.2_Silent_p.D507D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	507	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCCCGAGACGTGAGGGTCC	0.607																																					Ovarian(42;1009 1133 23674 26041)												0								ENSG00000012124						28	28	28					19																	35832259		2203	4300	6503	CD22	SO:0001819	synonymous_variant	0			-	HGNC	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1521C>T	19.37:g.35832259C>T		Somatic	0	35	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	12	0	0	21	32.26	10	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D507	ENST00000085219.5	37	c.1521	CCDS12457.1	19																																																																																			-	pfscan_Ig-like_dom		0.607	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	protein_coding	OTTHUMT00000466099.1	C	NM_001771	-		35832259	1	no_errors	ENST00000085219	ensembl	human	known	74_37	silent	SNP	0.000	T	T	35832259	C	T	35832259	2	4	156	1	0	0	0	0	0	0	0	1	2987	535	19	1		1	CD22	19	35832259	Silent	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	21962344	35832259	23296724	49	11275											
ZNF345	25850	genome.wustl.edu	37	chr19	37367976	37367976	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccttgttcgacatcagCgaattcatactggtgagaaa	9	9	2	1	rs202011849		TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr19:37367976C>T	ENST00000529555.1	+	2	1032	c.244C>T	c.(244-246)Cga>Tga	p.R82*	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Nonsense_Mutation_p.R82*|ZNF345_ENST00000420450.1_Nonsense_Mutation_p.R82*|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	82					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R82*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGACATCAGCGAATTCATAC	0.403																																																	1	Substitution - Nonsense(1)	endometrium(1)						ENSG00000251247						104	109	108					19																	37367976		2203	4300	6503	ZNF345	SO:0001587	stop_gained	0			-	HGNC	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.244C>T	19.37:g.37367976C>T	ENSP00000431202:p.Arg82*	Somatic	0	25	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26		Nonsense_Mutation	SNP	36	0	0	39	23.53	12	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R82*	ENST00000529555.1	37	c.244	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066976	0.55539	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	.	.	.	4.28	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5385	0.45018	0.3427:0.6573:0.0:0.0	.	.	.	.	X	82	.	.	R	+	1	2	ZNF345	42059816	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-1.759000	0.01808	1.064000	0.40671	0.655000	0.94253	CGA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	protein_coding	OTTHUMT00000388258.1	C		rs202011849		37367976	1	no_errors	ENST00000420450	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	37367976	C	T	37367976	4	4	156	1	0	0	0	0	0	1	0	0	17866	760	27	1	246	1	ZNF345	19	37367976	Nonsense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	1535717	37367976	21761007	50	11276											
ZNF610	162963	genome.wustl.edu	37	chr19	52869687	52869687	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtaatgaatgtggcaaggtCtttagtctgctttcatacct	9	7	3	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr19:52869687C>G	ENST00000403906.3	+	6	1512	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	ZNF610_ENST00000601151.1_Silent_p.V309V|ZNF610_ENST00000327920.8_Silent_p.V352V|ZNF610_ENST00000321287.8_Silent_p.V352V	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	352					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTGGCAAGGTCTTTAGTCTGC	0.418																																																	0								ENSG00000167554						89	90	90					19																	52869687		2203	4300	6503	ZNF610	SO:0001819	synonymous_variant	0			-	HGNC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1056C>G	19.37:g.52869687C>G		Somatic	0	22	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	41	0	0	40	28.07	16	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V352	ENST00000403906.3	37	c.1056	CCDS12851.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	protein_coding	OTTHUMT00000462880.1	C	NM_173530	-		52869687	1	no_errors	ENST00000321287	ensembl	human	known	74_37	silent	SNP	0.015	G	G	52869687	C	G	52869687	2	3	156	1	0	0	0	0	0	0	0	1	18043	900	32	4		4	ZNF610	19	52869687	Silent	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	15501711	52869687	6259296	51	11277											
NCF4	4689	genome.wustl.edu	37	chr22	37266539	37266539	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccctatgactcagagcAggtgccccaggcactccgcc	11	17	1	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr22:37266539A>T	ENST00000248899.6	+	5	609	c.425A>T	c.(424-426)cAg>cTg	p.Q142L	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.Q142L|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	142					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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GACTCAGAGCAGGTGCCCCAG	0.647																																																	0								ENSG00000100365						83	75	78					22																	37266539		2203	4300	6503	NCF4	SO:0001583	missense	0			-	HGNC	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.425A>T	22.37:g.37266539A>T	ENSP00000248899:p.Gln142Leu	Somatic	0	30	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	26	0	0	20	31.03	9	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.Q142L	ENST00000248899.6	37	c.425	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	a	18.22	3.576541	0.65878	.	.	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	T;T;T	0.65916	-0.18;1.62;1.62	4.95	4.95	0.65309	Phox homologous domain (2);	0.391386	0.25786	N	0.028317	T	0.63046	0.2478	M	0.69823	2.125	0.47153	D	0.99933	P;P	0.51057	0.941;0.935	P;B	0.47402	0.546;0.348	T	0.61647	-0.7020	10	0.23302	T	0.38	-37.3348	9.2296	0.37428	0.9186:0.0:0.0814:0.0	.	142;142	A8K4F9;Q15080	.;NCF4_HUMAN	L	39;142;142	ENSP00000414958:Q39L;ENSP00000248899:Q142L;ENSP00000380334:Q142L	ENSP00000248899:Q142L	Q	+	2	0	NCF4	35596485	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.379000	0.73154	1.850000	0.53721	0.524000	0.50904	CAG	-	superfamily_Phox,prints_NCF_P40		0.647	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	protein_coding	OTTHUMT00000318863.1	A	NM_000631	-		37266539	1	no_errors	ENST00000397147	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37266539	A	T	37266539	3	4	156	1	0	0	0	0	1	0	0	0	10220	188	7	5	443	5	NCF4	22	37266539	Missense_Mutation	SNP	A	TCGA-IF-A4AJ-01A-11D-A24N-09		37266539	14038027	52	11278											
SMCR7L	54471	genome.wustl.edu	37	chr22	39909888	39909888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctgccatcagtgaccCtcggtgacacagtcttggtg	10	13	2	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chr22:39909888C>T	ENST00000325301.2	+	6	1376	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F	MIEF1_ENST00000404569.1_Missense_Mutation_p.L318F|MIEF1_ENST00000402881.1_Missense_Mutation_p.L318F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	318					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										ATCAGTGACCCTCGGTGACAC	0.622											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100335						85	78	81					22																	39909888		2203	4300	6503	MIEF1	SO:0001583	missense	0			-	HGNC	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.952C>T	22.37:g.39909888C>T	ENSP00000327124:p.Leu318Phe	Somatic	0	59	0	889	0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	24.19	Q7L890|Q9BUI3	Missense_Mutation	SNP	20	0	0	16	44.83	13	NULL	p.L318F	ENST00000325301.2	37	c.952	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085790	0.36758	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.09445	2.98;2.98;2.98	6.07	5.04	0.67666	.	0.048280	0.85682	D	0.000000	T	0.15522	0.0374	L	0.40543	1.245	0.48452	D	0.999659	P;D	0.58268	0.78;0.982	B;P	0.57620	0.329;0.824	T	0.02950	-1.1090	10	0.09084	T	0.74	-14.4569	11.2099	0.48793	0.1265:0.8072:0.0:0.0663	.	318;318	Q9NQG6;B0QY95	MID51_HUMAN;.	F	318	ENSP00000385110:L318F;ENSP00000327124:L318F;ENSP00000385191:L318F	ENSP00000327124:L318F	L	+	1	0	SMCR7L	38239834	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.742000	0.47434	2.884000	0.98904	0.655000	0.94253	CTC	-	NULL		0.622	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	protein_coding	OTTHUMT00000321325.1	C	NM_019008	-		39909888	1	no_errors	ENST00000325301	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39909888	C	T	39909888	3	4	156	1	0	0	0	0	1	0	0	0	14799	681	24	2	966	2	SMCR7L	22	39909888	Missense_Mutation	SNP	C	TCGA-IF-A4AJ-01A-11D-A24N-09	2643349	39909888	11394678	53	11279											
ESX1	80712	genome.wustl.edu	37	chrX	103498855	103498855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccacaacgtcgggataTtgagattcatcgaaaaagtt	10	9	1	1			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chrX:103498855T>C	ENST00000372588.4	-	2	569	c.486A>G	c.(484-486)caA>caG	p.Q162Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	162					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGTCGGGATATTGAGATTCAT	0.622																																					Pancreas(200;1705 2227 25194 28471 45274)												0								ENSG00000123576						53	54	53					X																	103498855		2203	4298	6501	ESX1	SO:0001819	synonymous_variant	0			-	HGNC	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.486A>G	X.37:g.103498855T>C		Somatic	0	69	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	44	38.89	B0QYU3|Q7Z6K7	Silent	SNP	16	0	0	18	35.71	10	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.Q162	ENST00000372588.4	37	c.486	CCDS14516.1	X																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.622	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	protein_coding	OTTHUMT00000057763.2	T	NM_153448	-		103498855	-1	no_errors	ENST00000372588	ensembl	human	known	74_37	silent	SNP	0.000	C	C	103498855	T	C	103498855	2	2	156	1	0	0	0	0	0	0	0	1	5265	1490	52	5		5	ESX1	23	103498855	Silent	SNP	T	TCGA-IF-A4AJ-01A-11D-A24N-09		103498855	51771705	54	11280											
FLNA	2316	genome.wustl.edu	37	chrX	153588251	153588251	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgtccacactgaactcAgtggtggcctcacggaagac	13	13	2	2			TCGA-IF-A4AJ-01A-11D-A24N-09	TCGA-IF-A4AJ-11A-12D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d53c2680-89ac-4f87-a7ba-f4c669546b76	e8f6f409-7ff3-4eda-ad53-419f91052d25	g.chrX:153588251A>T	ENST00000369850.3	-	23	4064	c.3828T>A	c.(3826-3828)acT>acA	p.T1276T	FLNA_ENST00000344736.4_Silent_p.T1276T|FLNA_ENST00000360319.4_Silent_p.T1276T|FLNA_ENST00000422373.1_Silent_p.T1276T|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1276					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CACTGAACTCAGTGGTGGCCT	0.657																																																	0								ENSG00000196924						43	45	44					X																	153588251		2000	4130	6130	FLNA	SO:0001819	synonymous_variant	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3828T>A	X.37:g.153588251A>T		Somatic	0	50	0		0.579174079651794				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.82	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	10	0	0	15	42.31	11	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T1276	ENST00000369850.3	37	c.3828	CCDS48194.1	X																																																																																			-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	A		-		153588251	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	SNP	0.136	T	T	153588251	A	T	153588251	2	4	156	1	0	0	0	0	0	0	0	1	5935	175	7	5		5	FLNA	23	153588251	Silent	SNP	A	TCGA-IF-A4AJ-01A-11D-A24N-09	50089396	153588251	1682309	55	11281											
PADI1	29943	genome.wustl.edu	37	chr1	17555167	17555167	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtgctggggccccagtgtCtgtcctatgaagttgagcga	15	9	1	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:17555167C>A	ENST00000375471.4	+	7	792	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	234					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCCCAGTGTCTGTCCTATGA	0.577																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0								ENSG00000142623						148	161	157					1																	17555167		2203	4300	6503	PADI1	SO:0001583	missense	0			-	HGNC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.700C>A	1.37:g.17555167C>A	ENSP00000364620:p.Leu234Met	Somatic	0	74	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	10	78.72	A1L4K6|Q70SX6	Missense_Mutation	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L234M	ENST00000375471.4	37	c.700	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	C	8.059	0.767593	0.15983	.	.	ENSG00000142623	ENST00000375471	T	0.19669	2.13	4.83	-1.34	0.09143	Protein-arginine deiminase (PAD), central domain (2);	0.293191	0.28600	N	0.014769	T	0.18002	0.0432	M	0.69823	2.125	0.09310	N	1	B	0.25772	0.134	B	0.30029	0.11	T	0.15065	-1.0450	10	0.33141	T	0.24	-2.6385	2.8078	0.05432	0.1306:0.4898:0.1214:0.2582	.	234	Q9ULC6	PADI1_HUMAN	M	234	ENSP00000364620:L234M	ENSP00000364620:L234M	L	+	1	2	PADI1	17427754	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.683000	0.25349	0.082000	0.17018	-0.224000	0.12420	CTG	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.577	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	protein_coding	OTTHUMT00000006621.1	C	NM_013358	-		17555167	1	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	SNP	0.008	A	A	17555167	C	A	17555167	3	1	157	1	0	0	0	0	1	0	0	0	11379	912	32	3	726	3	PADI1	1	17555167	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09		17555167	231695454	1	11282											
NIPAL3	57185	genome.wustl.edu	37	chr1	24776053	24776053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcgcacccaacagtcaCgagaagatgacaggcgagaa	10	11	1	4			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:24776053C>T	ENST00000374399.4	+	6	845	c.477C>T	c.(475-477)caC>caT	p.H159H	NIPAL3_ENST00000339255.2_Silent_p.H159H|NIPAL3_ENST00000428131.1_Silent_p.H159H|NIPAL3_ENST00000003912.3_Silent_p.H77H|NIPAL3_ENST00000358028.4_Silent_p.H159H	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	159						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCAACAGTCACGAGAAGATGA	0.567																																																	0								ENSG00000001461						103	85	91					1																	24776053		2203	4300	6503	NIPAL3	SO:0001819	synonymous_variant	0			-	HGNC	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.477C>T	1.37:g.24776053C>T		Somatic	0	72	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	8	81.82	A2A298|Q6MZT9|Q9BVE6	Silent	SNP							pfam_Mg_trans_NIPA	p.H159	ENST00000374399.4	37	c.477	CCDS30631.1	1																																																																																			-	pfam_Mg_trans_NIPA		0.567	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	protein_coding	OTTHUMT00000276996.1	C	NM_020448	-		24776053	1	no_errors	ENST00000374399	ensembl	human	known	74_37	silent	SNP	0.549	T	T	24776053	C	T	24776053	2	4	157	1	0	0	0	0	0	0	0	1	10428	535	19	1		1	NIPAL3	1	24776053	Silent	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09	7220886	24776053	224474568	2	11283											
ADC	113451	genome.wustl.edu	37	chr1	33585656	33585656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacccctagggaagcgctgcGaaggcagctgatggctgcag	15	12	0	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:33585656G>A	ENST00000294517.6	+	12	1843	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	ADC_ENST00000373443.3_Missense_Mutation_p.R419Q|ADC_ENST00000398167.1_Missense_Mutation_p.R439Q|ADC_ENST00000373441.1_Missense_Mutation_p.R439Q|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		419					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GAAGCGCTGCGAAGGCAGCTG	0.642																																																	0								ENSG00000142920						85	65	72					1																	33585656		2203	4300	6503	ADC	SO:0001583	missense	0			-	HGNC																												ENST00000294517.6:c.1256G>A	1.37:g.33585656G>A	ENSP00000294517:p.Arg419Gln	Somatic	0	49	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP							pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.R439Q	ENST00000294517.6	37	c.1316	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	g	0.234	-1.019055	0.02078	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.22	-1.24	0.09435	Alanine racemase/group IV decarboxylase, C-terminal (1);	0.625204	0.14706	N	0.303276	T	0.21962	0.0529	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.18741	0.03;0.018	B;B	0.08055	0.003;0.001	T	0.30446	-0.9978	10	0.02654	T	1	0.2269	9.6375	0.39819	0.4445:0.0:0.5555:0.0	.	439;419	Q96A70-2;Q96A70	.;ADC_HUMAN	Q	419;419;439;439	ENSP00000294517:R419Q;ENSP00000362542:R419Q;ENSP00000381233:R439Q;ENSP00000362540:R439Q	ENSP00000294517:R419Q	R	+	2	0	ADC	33358243	0.041000	0.20044	0.047000	0.18901	0.422000	0.31414	0.310000	0.19356	-0.164000	0.10927	0.556000	0.70494	CGA	-	superfamily_Ala_racemase/Decarboxylase_C		0.642	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	protein_coding	OTTHUMT00000011867.1	G		-		33585656	1	no_errors	ENST00000373441	ensembl	human	known	74_37	missense	SNP	0.068	A	A	33585656	G	A	33585656	3	1	157	1	0	0	0	0	1	0	0	0	287	1058	37	1	1290	1	ADC	1	33585656	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	8809603	33585656	215664965	3	11284											
VAV3	10451	genome.wustl.edu	37	chr1	108293737	108293737	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagtattcttcttttcttAcctttcttgtttggtatgct	5	7	4	0			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:108293737A>G	ENST00000370056.4	-	13	1534		c.e13+1		VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTCTTTTCTTACCTTTCTTGT	0.338																																																	0								ENSG00000134215						98	92	94					1																	108293737		2203	4300	6503	VAV3	SO:0001630	splice_region_variant	0			-	HGNC	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1259+1T>C	1.37:g.108293737A>G		Somatic	0	39	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP							-	e13+2	ENST00000370056.4	37	c.1259+2	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108882	0.56398	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6052	0.76664	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108095260	1.000000	0.71417	0.998000	0.56505	0.487000	0.33371	8.847000	0.92166	2.095000	0.63458	0.460000	0.39030	.	-	-		0.338	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	protein_coding	OTTHUMT00000030242.2	A	NM_006113	-	Intron	108293737	-1	no_errors	ENST00000370056	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	108293737	A	G	108293737	5	3	157	1	0	0	0	0	0	0	1	0	17140	405	14	5	1367	5	VAV3	1	108293737	Splice_Site	SNP	A	TCGA-IF-A4AK-01A-21D-A24N-09	74708081	108293737	140956884	4	11285											
RHBG	57127	genome.wustl.edu	37	chr1	156347271	156347271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccacatccatgttggcGtggagaggtgggcagccgcc	17	11	0	1	rs369197444	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:156347271G>A	ENST00000368249.1	+	2	405	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	RHBG_ENST00000255013.3_Missense_Mutation_p.V54M|RHBG_ENST00000451864.2_Missense_Mutation_p.V54M|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Missense_Mutation_p.V54M|RHBG_ENST00000368246.2_Missense_Mutation_p.V123M	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	123					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCATGTTGGCGTGGAGAGGTG	0.652													G|||	4	0.000798722	8e-04	0	5008	,	,		18725	0.003		0	False		,,,				2504	0																0								ENSG00000132677	G	MET/VAL	0,4292		0,0,2146	43	48	46		367	-4.1	0.1	1		46	2,8502		0,2,4250	no	missense	RHBG	NM_020407.3	21	0,2,6396	AA,AG,GG		0.0235,0.0,0.0156	benign	123/459	156347271	2,12794	2146	4252	6398	RHBG	SO:0001583	missense	0			-	HGNC	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.367G>A	1.37:g.156347271G>A	ENSP00000357232:p.Val123Met	Somatic	0	91	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	61	37.11	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP							pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.V123M	ENST00000368249.1	37	c.367		1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980493	0.34942	0.0	2.35E-4	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.17	-4.06	0.03986	Ammonium transporter AmtB-like (3);	0.532223	0.20817	N	0.085122	T	0.04543	0.0124	N	0.20574	0.59	0.32669	N	0.517066	B;P;P	0.42161	0.039;0.719;0.772	B;B;B	0.30943	0.01;0.104;0.122	T	0.13124	-1.0521	10	0.48119	T	0.1	-20.4477	13.3064	0.60355	0.665:0.0:0.335:0.0	.	123;54;160	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	M	123;123;54;54;54	ENSP00000357232:V123M;ENSP00000357229:V123M;ENSP00000383777:V54M;ENSP00000255013:V54M;ENSP00000389836:V54M	ENSP00000255013:V54M	V	+	1	0	RHBG	154613895	0.000000	0.05858	0.063000	0.19743	0.346000	0.29079	-0.215000	0.09279	-0.733000	0.04850	-1.036000	0.02392	GTG	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom		0.652	RHBG-001	NOVEL	basic	protein_coding	RHBG	protein_coding	OTTHUMT00000060589.2	G	NM_001256395	-		156347271	1	no_errors	ENST00000368246	ensembl	human	known	74_37	missense	SNP	0.298	A	A	156347271	G	A	156347271	3	1	157	1	0	0	0	0	1	0	0	0	13332	1145	40	1	373	1	RHBG	1	156347271	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	48053534	156347271	92903350	5	11286											
ELF3	1999	genome.wustl.edu	37	chr1	201981253	201981253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcccttgaggagctgcGtctggtctttgggcctctgg	15	10	3	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:201981253G>A	ENST00000359651.3	+	2	3524	c.332G>A	c.(331-333)cGt>cAt	p.R111H	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.R111H|ELF3_ENST00000367283.3_Missense_Mutation_p.R111H|ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GAGGAGCTGCGTCTGGTCTTT	0.592																																																	0								ENSG00000163435						66	59	61					1																	201981253		2203	4300	6503	ELF3	SO:0001583	missense	0			-	HGNC	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.332G>A	1.37:g.201981253G>A	ENSP00000352673:p.Arg111His	Somatic	0	39	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	38	39.68		Missense_Mutation	SNP							pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R111H	ENST00000359651.3	37	c.332	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483791	0.84854	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.56	5.56	0.83823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.463335	0.21665	N	0.070953	T	0.43545	0.1252	L	0.57536	1.79	0.38514	D	0.948554	D	0.67145	0.996	P	0.55713	0.782	T	0.22208	-1.0223	10	0.20519	T	0.43	.	15.0638	0.71977	0.0:0.1415:0.8585:0.0	.	111	P78545	ELF3_HUMAN	H	111;111;111;111;109	ENSP00000352673:R111H;ENSP00000356253:R111H;ENSP00000356252:R111H;ENSP00000405162:R109H	ENSP00000311348:R111H	R	+	2	0	ELF3	200247876	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	3.968000	0.56809	2.608000	0.88229	0.591000	0.81541	CGT	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.592	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	protein_coding	OTTHUMT00000087360.1	G	NM_004433	-		201981253	1	no_errors	ENST00000359651	ensembl	human	known	74_37	missense	SNP	0.951	A	A	201981253	G	A	201981253	3	1	157	1	0	0	0	0	1	0	0	0	5057	1145	40	1	338	1	ELF3	1	201981253	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	45633982	201981253	47269368	6	11287											
CENPF	1063	genome.wustl.edu	37	chr1	214794049	214794049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatcaccgcgacattgccCggcatcaggcttcatcatct	8	14	5	1	rs148125567		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:214794049C>T	ENST00000366955.3	+	6	793	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				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)	p.R209W(1)		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)		CGACATTGCCCGGCATCAGGC	0.433													C|||	1	0.000199681	0	0.0014	5008	,	,		18495	0		0	False		,,,				2504	0				Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	NS(1)						ENSG00000117724	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	116	129	124		625	5.1	0.9	1	dbSNP_134	124	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CENPF	NM_016343.3	101	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	209/3115	214794049	5,13001	2203	4300	6503	CENPF	SO:0001583	missense	0			-	HGNC	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.625C>T	1.37:g.214794049C>T	ENSP00000355922:p.Arg209Trp	Somatic	0	50	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	34	49.25	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP							pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.R209W	ENST00000366955.3	37	c.625	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284636	0.80803	2.27E-4	4.65E-4	ENSG00000117724	ENST00000366955	T	0.29397	1.57	6.0	5.07	0.68467	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.32343	N	0.006234	T	0.59169	0.2174	.	.	.	0.45172	D	0.99818	D	0.89917	1.0	D	0.97110	1.0	T	0.66164	-0.5992	9	0.87932	D	0	.	16.2073	0.82138	0.1379:0.8621:0.0:0.0	.	209	P49454	CENPF_HUMAN	W	209	ENSP00000355922:R209W	ENSP00000355922:R209W	R	+	1	2	CENPF	212860672	0.960000	0.32886	0.916000	0.36221	0.977000	0.68977	1.993000	0.40747	1.482000	0.48325	0.603000	0.83216	CGG	-	pfam_Centromere_CenpF_N		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	C	NM_016343	rs148125567		214794049	1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	SNP	0.980	T	T	214794049	C	T	214794049	3	4	157	1	0	0	0	0	1	0	0	0	3233	643	23	1	643	1	CENPF	1	214794049	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09	12812796	214794049	34456572	7	11288											
OR14C36	127066	genome.wustl.edu	37	chr1	248512774	248512774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaagaggagcagacagaaCaaaggccttttccacctgca	9	12	0	3			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:248512774C>A	ENST00000317861.1	+	1	698	c.698C>A	c.(697-699)aCa>aAa	p.T233K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCAGACAGAACAAAGGCCTTT	0.527																																																	0								ENSG00000177174						210	147	168					1																	248512774		2203	4300	6503	OR14C36	SO:0001583	missense	0			-	HGNC	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.698C>A	1.37:g.248512774C>A	ENSP00000324534:p.Thr233Lys	Somatic	0	21	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	Q6IEZ6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T233K	ENST00000317861.1	37	c.698	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058754	0.19987	.	.	ENSG00000177174	ENST00000317861	T	0.00051	8.81	3.91	-7.81	0.01210	GPCR, rhodopsin-like superfamily (1);	2.201550	0.02197	N	0.061882	T	0.00039	0.0001	N	0.00301	-1.68	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44937	-0.9295	10	0.27082	T	0.32	.	2.2848	0.04124	0.3805:0.3407:0.1052:0.1735	.	233	Q8NHC7	O14CZ_HUMAN	K	233	ENSP00000324534:T233K	ENSP00000324534:T233K	T	+	2	0	OR14C36	246579397	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.324000	0.07986	-2.702000	0.00398	0.395000	0.25975	ACA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	protein_coding	OTTHUMT00000097359.1	C	NM_001001918	-		248512774	1	no_errors	ENST00000317861	ensembl	human	known	74_37	missense	SNP	0.000	A	A	248512774	C	A	248512774	3	1	157	1	0	0	0	0	1	0	0	0	10948	478	17	3	700	3	OR14C36	1	248512774	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09	33718725	248512774	737847	8	11289											
TMBIM1	64114	genome.wustl.edu	37	chr2	219142143	219142143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gataccaccgcagtgatgatCattgcaatgatgacggcttt	10	9	1	4			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:219142143C>T	ENST00000444881.1	-	10	1310	c.585G>A	c.(583-585)atG>atA	p.M195I	TMBIM1_ENST00000396809.2_Missense_Mutation_p.M195I|TMBIM1_ENST00000445635.1_Missense_Mutation_p.M21I|PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.M195I			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	195					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGATGATCATTGCAATGA	0.507																																																	0								ENSG00000135926						112	104	107					2																	219142143		2203	4300	6503	TMBIM1	SO:0001583	missense	0			-	HGNC	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.585G>A	2.37:g.219142143C>T	ENSP00000409738:p.Met195Ile	Somatic	0	36	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP							pfam_Bax_inhibitor_1-related	p.M195I	ENST00000444881.1	37	c.585	CCDS2412.1	2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051556	0.55218	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.85	4.85	0.62838	.	0.118551	0.85682	D	0.000000	T	0.35335	0.0928	L	0.35249	1.045	0.80722	D	1	B;B	0.20261	0.043;0.003	B;B	0.16722	0.016;0.007	T	0.08659	-1.0711	10	0.30854	T	0.27	-21.8922	18.1897	0.89803	0.0:1.0:0.0:0.0	.	133;195	B4DNZ1;Q969X1	.;TMBI1_HUMAN	I	195;195;195;21;133	ENSP00000258412:M195I;ENSP00000409738:M195I;ENSP00000380025:M195I;ENSP00000401491:M21I	ENSP00000258412:M195I	M	-	3	0	TMBIM1	218850387	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.388000	0.59633	2.529000	0.85273	0.655000	0.94253	ATG	-	pfam_Bax_inhibitor_1-related		0.507	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	protein_coding	OTTHUMT00000338559.1	C	NM_022152	-		219142143	-1	no_errors	ENST00000258412	ensembl	human	known	74_37	missense	SNP	1.000	T	T	219142143	C	T	219142143	3	4	157	1	0	0	0	0	1	0	0	0	15988	826	29	2	366	2	TMBIM1	2	219142143	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09		219142143	24057230	9	11290											
FARSB	10056	genome.wustl.edu	37	chr2	223497942	223497942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgggaggcattgaaaGgacgacaccattgctatcat	12	7	1	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:223497942G>T	ENST00000281828.6	-	7	954	c.691C>A	c.(691-693)Ctt>Att	p.L231I	FARSB_ENST00000536361.1_Missense_Mutation_p.L132I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	231					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GGCATTGAAAGGACGACACCA	0.343																																																	0								ENSG00000116120						123	120	121					2																	223497942		2203	4299	6502	FARSB	SO:0001583	missense	0			-	HGNC	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.691C>A	2.37:g.223497942G>T	ENSP00000281828:p.Leu231Ile	Somatic	0	31	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP							pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.L231I	ENST00000281828.6	37	c.691	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047878	0.75846	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.30448	1.53;1.53	5.29	4.4	0.53042	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.060470	0.64402	D	0.000002	T	0.53642	0.1809	M	0.74389	2.26	0.58432	D	0.99999	P;P	0.47350	0.894;0.477	P;P	0.61070	0.883;0.815	T	0.58239	-0.7671	10	0.56958	D	0.05	-11.1046	15.7154	0.77663	0.0:0.0:0.8621:0.1379	.	231;231	A8K666;Q9NSD9	.;SYFB_HUMAN	I	231;132	ENSP00000281828:L231I;ENSP00000442950:L132I	ENSP00000281828:L231I	L	-	1	0	FARSB	223206186	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	7.387000	0.79785	1.364000	0.46038	0.478000	0.44815	CTT	-	pfam_B3/B4_tRNA-bd,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,tigrfam_Phe-tRNA-synth_IIc_bsu_arc		0.343	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	protein_coding	OTTHUMT00000256855.2	G	NM_005687	-		223497942	-1	no_errors	ENST00000281828	ensembl	human	known	74_37	missense	SNP	1.000	T	T	223497942	G	T	223497942	3	4	157	1	0	0	0	0	1	0	0	0	5682	1000	35	3	1122	3	FARSB	2	223497942	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	4355799	223497942	19701431	10	11291											
SNED1	25992	genome.wustl.edu	37	chr2	242007218	242007218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaggtcaccaatgtgaCggctagcaccatctcagtgc	10	13	2	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:242007218C>T	ENST00000310397.8	+	22	3050	c.3050C>T	c.(3049-3051)aCg>aTg	p.T1017M	SNED1_ENST00000342631.6_Missense_Mutation_p.T1017M|SNED1_ENST00000405547.3_Missense_Mutation_p.T1017M|SNED1_ENST00000401884.1_Missense_Mutation_p.T1017M	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1017	Fibronectin type-III 2. {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)		ACCAATGTGACGGCTAGCACC	0.662																																																	0								ENSG00000162804						41	47	45					2																	242007218		2089	4196	6285	SNED1	SO:0001583	missense	0			-	HGNC	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.3050C>T	2.37:g.242007218C>T	ENSP00000308893:p.Thr1017Met	Somatic	0	40	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.T1017M	ENST00000310397.8	37	c.3050	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236289	0.58886	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.18	5.18	0.71444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.262956	0.26616	N	0.023394	T	0.64875	0.2638	L	0.29908	0.895	0.29995	N	0.816536	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.68192	0.941;0.928;0.956	T	0.62581	-0.6824	10	0.36615	T	0.2	.	16.8748	0.86048	0.0:1.0:0.0:0.0	.	1017;1017;1017	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	M	1017	ENSP00000384871:T1017M;ENSP00000386007:T1017M;ENSP00000308893:T1017M;ENSP00000342992:T1017M	ENSP00000308893:T1017M	T	+	2	0	SNED1	241655891	1.000000	0.71417	0.792000	0.32020	0.156000	0.22039	5.626000	0.67777	2.426000	0.82243	0.491000	0.48974	ACG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.662	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	C	XM_059482	-		242007218	1	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	SNP	0.986	T	T	242007218	C	T	242007218	3	4	157	1	0	0	0	0	1	0	0	0	14853	536	19	1	3136	1	SNED1	2	242007218	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09	18509276	242007218	1192155	11	11292											
ULK4	54986	genome.wustl.edu	37	chr3	41938472	41938472	+	Frame_Shift_Del	DEL	C	C	-													aaagtcattccaatcttgatCtttcagaaataataacttat							TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr3:41938472delC	ENST00000301831.4	-	15	1834	c.1372delG	c.(1372-1374)gatfs	p.D458fs	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Frame_Shift_Del_p.D458fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	458					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAATCTTGATCTTTCAGAAAT	0.388																																																	0								ENSG00000168038						68	67	67					3																	41938472		1871	4105	5976	ULK4	SO:0001589	frameshift_variant	0				HGNC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1372delG	3.37:g.41938472delC	ENSP00000301831:p.Asp458fs	Somatic	0	10	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D458fs	ENST00000301831.4	37	c.1372	CCDS43071.1	3																																																																																			-	NULL		0.388	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	protein_coding	OTTHUMT00000343490.1	C	XM_929989			41938472	-1	no_errors	ENST00000301831	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	41938472	C	-	41938472	7	5	157	1	0	1	0	1	0	0	0	0	16985	913	32	0	2547	0	ULK4	3	41938472	Frame_Shift_Del	DEL	C	TCGA-IF-A4AK-01A-21D-A24N-09		41938472	156083958	12	11293											
BTC	685	genome.wustl.edu	37	chr4	75673316	75673317	+	In_Frame_Ins	INS	-	-	TTCTTCTTCTTCTTCTTC													tctttacccagagtttccatINSttcttcttctttcttctttc							TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr4:75673316_75673317insTTCTTCTTCTTCTTCTTC	ENST00000395743.3	-	5	831_832	c.471_472insGAAGAAGAAGAAGAAGAA	c.(469-474)gaaatg>gaaGAAGAAGAAGAAGAAGAAatg	p.156_157insEEEEEE		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	156					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)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGAGTTTCCATTTCTTCTTCTT	0.342																																																	0								ENSG00000174808																																			BTC	SO:0001652	inframe_insertion	0				HGNC	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.471_472insGAAGAAGAAGAAGAAGAA	4.37:g.75673316_75673317insTTCTTCTTCTTCTTCTTC	ENSP00000379092:p.Glu156_Glu157insGluGluGluGluGluGlu	Somatic					0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96F48	In_Frame_Ins	INS							pfscan_EG-like_dom	p.157in_frame_insEEEEEE	ENST00000395743.3	37	c.472_471	CCDS3566.1	4																																																																																			-	NULL		0.342	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTC	protein_coding	OTTHUMT00000252413.1	-				75673317	-1	no_errors	ENST00000395743	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	TTCTTCTTCTTCTTCTTC	TTCTTCTTCTTCTTCTTC	75673317	-	TTCTTCTTCTTCTTCTTC	75673316	7	5	157	1	0	1	1	0	0	0	0	0	1551	1493	52	0	68	0	BTC	4	75673316	In_Frame_Ins	INS	-	TCGA-IF-A4AK-01A-21D-A24N-09		75673316	115480960	13	11294											
PDHA2	5161	genome.wustl.edu	37	chr4	96761780	96761780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtataccaagaacttctatgGgggcaatggcatcgtcggtg	13	8	1	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr4:96761780G>T	ENST00000295266.4	+	1	542	c.479G>T	c.(478-480)gGg>gTg	p.G160V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	160					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AACTTCTATGGGGGCAATGGC	0.498																																																	0								ENSG00000163114						77	77	77					4																	96761780		2203	4300	6503	PDHA2	SO:0001583	missense	0			-	HGNC		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.479G>T	4.37:g.96761780G>T	ENSP00000295266:p.Gly160Val	Somatic	0	51	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP							pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.G160V	ENST00000295266.4	37	c.479	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348501	0.61183	.	.	ENSG00000163114	ENST00000295266	D	0.97303	-4.33	4.77	4.77	0.60923	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99293	1.0899	10	0.87932	D	0	-15.9841	15.6906	0.77450	0.0:0.0:1.0:0.0	.	160	P29803	ODPAT_HUMAN	V	160	ENSP00000295266:G160V	ENSP00000295266:G160V	G	+	2	0	PDHA2	96980803	1.000000	0.71417	0.997000	0.53966	0.332000	0.28634	8.854000	0.92228	2.646000	0.89796	0.467000	0.42956	GGG	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.498	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	protein_coding	OTTHUMT00000253608.1	G		-		96761780	1	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96761780	G	T	96761780	3	4	157	1	0	0	0	0	1	0	0	0	11667	1232	43	3	481	3	PDHA2	4	96761780	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	21088464	96761780	94392496	14	11295											
PCDHB7	56129	genome.wustl.edu	37	chr5	140553042	140553042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagataccagagttcaGtttaaccctcaccgctttag	9	10	2	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr5:140553042G>A	ENST00000231137.3	+	1	800	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	209	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.S209N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGTTCAGTTTAACCCTC	0.502																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000113212						73	71	72					5																	140553042		2203	4300	6503	PCDHB7	SO:0001583	missense	0			-	HGNC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.626G>A	5.37:g.140553042G>A	ENSP00000231137:p.Ser209Asn	Somatic	0	55	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	61	8.96	A1L3Y8	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S209N	ENST00000231137.3	37	c.626	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316588	0.01331	.	.	ENSG00000113212	ENST00000231137	T	0.03065	4.06	4.61	0.952	0.19584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	N	0.26042	0.785	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.43327	-0.9398	9	0.42905	T	0.14	.	5.7995	0.18406	0.2369:0.2094:0.5536:0.0	.	209	Q9Y5E2	PCDB7_HUMAN	N	209	ENSP00000231137:S209N	ENSP00000231137:S209N	S	+	2	0	PCDHB7	140533226	0.000000	0.05858	0.976000	0.42696	0.030000	0.12068	-0.588000	0.05774	0.359000	0.24239	0.655000	0.94253	AGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	protein_coding	OTTHUMT00000251803.2	G	NM_018940	-		140553042	1	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	SNP	0.018	A	A	140553042	G	A	140553042	3	1	157	1	0	0	0	0	1	0	0	0	11549	1029	36	2	628	2	PCDHB7	5	140553042	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09		140553042	40362218	15	11296											
PRRT1	80863	genome.wustl.edu	37	chr6	32118219	32118219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccgggcgctacgtagcCccccagcggcagcgtgccca	13	17	0	0			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:32118219C>T	ENST00000211413.5	-	2	608	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	PRRT1_ENST00000375152.2_Missense_Mutation_p.G81S|PRRT1_ENST00000467780.1_5'Flank|PRRT1_ENST00000375150.2_Missense_Mutation_p.G81S	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	162					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCTACGTAGCCCCCCAGCGGC	0.741																																																	0								ENSG00000204314						20	19	19					6																	32118219		1505	2700	4205	PRRT1	SO:0001583	missense	0			-	HGNC	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.484G>A	6.37:g.32118219C>T	ENSP00000211413:p.Gly162Ser	Somatic	0	29	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP							pfam_CD225/Dispanin_fam	p.G162S	ENST00000211413.5	37	c.484	CCDS4739.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722326	0.89298	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.94497	-3.44;-2.93;-2.93	3.82	3.82	0.43975	.	.	.	.	.	D	0.93239	0.7846	L	0.27053	0.805	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94082	0.7345	9	0.56958	D	0.05	.	13.2161	0.59861	0.0:1.0:0.0:0.0	.	162;81	Q99946;Q99946-2	PRRT1_HUMAN;.	S	162;81;81	ENSP00000211413:G162S;ENSP00000364292:G81S;ENSP00000364294:G81S	ENSP00000211413:G162S	G	-	1	0	PRRT1	32226197	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.476000	0.73587	1.691000	0.51100	0.491000	0.48974	GGC	-	NULL		0.741	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	protein_coding	OTTHUMT00000076255.2	C	NM_030651	-		32118219	-1	no_errors	ENST00000211413	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32118219	C	T	32118219	3	4	157	1	0	0	0	0	1	0	0	0	12614	623	22	2	448	2	PRRT1	6	32118219	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09		32118219	138996848	16	11297											
OPN5	221391	genome.wustl.edu	37	chr6	47762984	47762984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttggctgaaaagaaaGcacgcctacatctgcctggc	13	10	1	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:47762984G>T	ENST00000371211.2	+	4	469	c.441G>T	c.(439-441)aaG>aaT	p.K147N	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.K147N|OPN5_ENST00000393699.2_Missense_Mutation_p.K147N	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	147					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)	p.K147N(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGAAAAGAAAGCACGCCTACA	0.547																																					Melanoma(28;740 973 10870 42660 45347)												1	Substitution - Missense(1)	lung(1)						ENSG00000124818						40	36	38					6																	47762984		2203	4300	6503	OPN5	SO:0001583	missense	0			-	HGNC	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.441G>T	6.37:g.47762984G>T	ENSP00000360255:p.Lys147Asn	Somatic	0	51	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	24	50.00	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.K147N	ENST00000371211.2	37	c.441	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659864	0.29515	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.40225	1.04;1.04;1.04	5.78	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.292305	0.44097	D	0.000491	T	0.07638	0.0192	N	0.12443	0.215	0.35010	D	0.7568	B	0.10296	0.003	B	0.11329	0.006	T	0.17349	-1.0372	10	0.02654	T	1	.	8.3826	0.32481	0.0:0.3808:0.3359:0.2833	.	147	Q6U736	OPN5_HUMAN	N	147	ENSP00000426991:K147N;ENSP00000360255:K147N;ENSP00000377302:K147N	ENSP00000360255:K147N	K	+	3	2	OPN5	47870943	0.880000	0.30214	1.000000	0.80357	0.998000	0.95712	-0.036000	0.12185	2.735000	0.93741	0.557000	0.71058	AAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	protein_coding	OTTHUMT00000359451.1	G	NM_181744	-		47762984	1	no_errors	ENST00000371211	ensembl	human	known	74_37	missense	SNP	0.999	T	T	47762984	G	T	47762984	3	4	157	1	0	0	0	0	1	0	0	0	10885	962	34	3	455	3	OPN5	6	47762984	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	15644765	47762984	123352083	17	11298											
TINAG	27283	genome.wustl.edu	37	chr6	54245359	54245359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacaagggcagaaagAaaaattttgggtatgtaact	12	4	0	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:54245359A>G	ENST00000259782.4	+	10	1382	c.1286A>G	c.(1285-1287)gAa>gGa	p.E429G		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	429					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGGCAGAAAGAAAAATTTTGG	0.358																																																	0								ENSG00000137251						115	127	123					6																	54245359		2203	4300	6503	TINAG	SO:0001583	missense	0			-	HGNC	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1286A>G	6.37:g.54245359A>G	ENSP00000259782:p.Glu429Gly	Somatic	0	79	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP							pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.E429G	ENST00000259782.4	37	c.1286	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788330	0.49997	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84070	-1.8	4.94	4.94	0.65067	Peptidase C1A, papain C-terminal (2);	0.086238	0.49916	D	0.000126	T	0.79197	0.4405	L	0.33668	1.02	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.77365	-0.2615	10	0.22706	T	0.39	.	11.2882	0.49234	1.0:0.0:0.0:0.0	.	429	Q9UJW2	TINAG_HUMAN	G	288;429;108	ENSP00000259782:E429G	ENSP00000259782:E429G	E	+	2	0	TINAG	54353318	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.658000	0.61497	1.973000	0.57446	0.528000	0.53228	GAA	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.358	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	protein_coding	OTTHUMT00000040984.1	A	NM_014464	-		54245359	1	no_errors	ENST00000259782	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54245359	A	G	54245359	3	3	157	1	0	0	0	0	1	0	0	0	15928	246	9	5	1324	5	TINAG	6	54245359	Missense_Mutation	SNP	A	TCGA-IF-A4AK-01A-21D-A24N-09	6482375	54245359	116869708	18	11299											
GFRAL	389400	genome.wustl.edu	37	chr6	55263988	55263988	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctttcagattatccaacCctgtctaatgtcaaaggcat	5	10	4	1	rs146209371		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:55263988C>A	ENST00000340465.2	+	7	1049	c.963C>A	c.(961-963)acC>acA	p.T321T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	321					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTATCCAACCCTGTCTAATG	0.299																																																	0								ENSG00000187871						36	36	36					6																	55263988		2203	4290	6493	GFRAL	SO:0001819	synonymous_variant	0			-	HGNC	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.963C>A	6.37:g.55263988C>A		Somatic	0	45	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	Q5VTF6	Silent	SNP							pfam_GDNF/GAS1,smart_GDNF/GAS1	p.T321	ENST00000340465.2	37	c.963	CCDS4957.1	6																																																																																			-	NULL		0.299	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	protein_coding	OTTHUMT00000040995.2	C	NM_207410	-		55263988	1	no_errors	ENST00000340465	ensembl	human	known	74_37	silent	SNP	0.000	A	A	55263988	C	A	55263988	2	1	157	1	0	0	0	0	0	0	0	1	6353	610	22	3		3	GFRAL	6	55263988	Silent	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09	1018629	55263988	115851079	19	11300											
MDN1	23195	genome.wustl.edu	37	chr6	90468585	90468585	+	Frame_Shift_Del	DEL	A	A	-													atccagaagatccttcaagcAaaccactcagacattctagt							TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:90468585delA	ENST00000369393.3	-	18	2670	c.2555delT	c.(2554-2556)ttgfs	p.L853fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.L853fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	853					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTTCAAGCAAACCACTCAG	0.473																																																	0								ENSG00000112159						112	98	103					6																	90468585		2203	4300	6503	MDN1	SO:0001589	frameshift_variant	0				HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2555delT	6.37:g.90468585delA	ENSP00000358400:p.Leu853fs	Somatic	0	47	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	O15019|Q5T794	Frame_Shift_Del	DEL							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L852fs	ENST00000369393.3	37	c.2555	CCDS5024.1	6																																																																																			-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	A				90468585	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	90468585	A	-	90468585	7	5	157	1	0	1	0	1	0	0	0	0	9417	131	5	0	14575	0	MDN1	6	90468585	Frame_Shift_Del	DEL	A	TCGA-IF-A4AK-01A-21D-A24N-09	35204597	90468585	80646482	20	11301											
VPS41	27072	genome.wustl.edu	37	chr7	38813817	38813817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctggatgatgtccaGtctaggcctggcacagtatt	13	8	1	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr7:38813817G>T	ENST00000310301.4	-	12	964	c.910C>A	c.(910-912)Ctg>Atg	p.L304M	VPS41_ENST00000395969.2_Missense_Mutation_p.L279M|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	304					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATGATGTCCAGTCTAGGCCTG	0.368																																																	0								ENSG00000006715						153	157	156					7																	38813817		2203	4300	6503	VPS41	SO:0001583	missense	0			-	HGNC	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.910C>A	7.37:g.38813817G>T	ENSP00000309457:p.Leu304Met	Somatic	0	50	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP							pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.L304M	ENST00000310301.4	37	c.910	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898354	0.72639	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.54479	0.57;0.57	5.93	-3.95	0.04118	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.74389	2.26	0.49687	D	0.999819	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.973;0.973;0.973	T	0.73369	-0.4004	10	0.52906	T	0.07	-12.5901	18.9403	0.92602	0.1837:0.0:0.8163:0.0	.	304;279;304	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	M	304;279	ENSP00000309457:L304M;ENSP00000379297:L279M	ENSP00000309457:L304M	L	-	1	2	VPS41	38780342	1.000000	0.71417	0.340000	0.25575	0.992000	0.81027	1.061000	0.30542	-0.557000	0.06126	0.561000	0.74099	CTG	-	pirsf_VPS41		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	protein_coding	OTTHUMT00000226986.3	G		-		38813817	-1	no_errors	ENST00000310301	ensembl	human	known	74_37	missense	SNP	0.990	T	T	38813817	G	T	38813817	3	4	157	1	0	0	0	0	1	0	0	0	17217	1020	36	3	1726	3	VPS41	7	38813817	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09		38813817	120324846	21	11302											
NEFM	4741	genome.wustl.edu	37	chr8	24775542	24775542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaaaaggaagagaaacCaaaggatgtgccagagaaga	13	4	0	4	rs196863	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr8:24775542C>T	ENST00000221166.5	+	3	2956	c.2174C>T	c.(2173-2175)cCa>cTa	p.P725L	NEFM_ENST00000433454.2_Missense_Mutation_p.P349L|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.P686L|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	725	Tail.		P -> Q (in dbSNP:rs196863).		axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaagagaaaccaaaggatgtg	0.473																																																	0			GRCh37	CM034442	NEFM	M	rs196863	ENSG00000104722						60	57	58					8																	24775542		2190	4274	6464	NEFM	SO:0001583	missense	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2174C>T	8.37:g.24775542C>T	ENSP00000221166:p.Pro725Leu	Somatic	0	32	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP							pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.P725L	ENST00000221166.5	37	c.2174	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843419	0.32606	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.95307	-2.02;-1.81;-3.67	4.08	3.11	0.35812	.	0.504572	0.16191	N	0.225367	D	0.91935	0.7446	L	0.58810	1.83	0.44221	D	0.997057	B	0.24186	0.099	B	0.18871	0.023	D	0.90887	0.4758	10	0.52906	T	0.07	.	12.2955	0.54844	0.0:0.6835:0.3165:0.0	.	725	P07197	NFM_HUMAN	L	725;686;349	ENSP00000221166:P725L;ENSP00000410137:P686L;ENSP00000412295:P349L	ENSP00000221166:P725L	P	+	2	0	NEFM	24831447	0.000000	0.05858	0.855000	0.33649	0.720000	0.41350	1.344000	0.33941	1.973000	0.57446	0.185000	0.17295	CCA	-	NULL		0.473	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	C	NM_005382	-		24775542	1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	SNP	0.379	T	T	24775542	C	T	24775542	3	4	157	1	0	0	0	0	1	0	0	0	10318	594	21	2	2184	2	NEFM	8	24775542	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09		24775542	121588480	22	11303											
C8orf38	137682	genome.wustl.edu	37	chr8	96047806	96047807	+	Splice_Site	INS	-	-	AA													gccattgaactatggaaggtINSaaaaaaaaaaaaataccact					rs397749867|rs34960210	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr8:96047806_96047807insAA	ENST00000396124.4	+	3	443		c.e3+2		NDUFAF6_ENST00000286687.4_Splice_Site|NDUFAF6_ENST00000542894.1_Splice_Site|NDUFAF6_ENST00000396113.1_Splice_Site|NDUFAF6_ENST00000396111.2_Splice_Site	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6						biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										CTATGGAAGGTAAAAAAAAAAA	0.332																																																	0								ENSG00000156170																																			NDUFAF6	SO:0001630	splice_region_variant	0				HGNC	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.420+2->AA	8.37:g.96047815_96047816dupAA		Somatic	0	33	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	A8MT28|A8MWF0|B4DQ45|Q8N6U6	Splice_Site	INS							-	e3+2	ENST00000396124.4	37	c.420+2_420+1	CCDS6266.2	8																																																																																			-	-		0.332	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF6	protein_coding	OTTHUMT00000316700.2	-	NM_152416		Intron	96047807	1	no_errors	ENST00000396124	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.999	AA	AA	96047807	-	AA	96047806	8	5	157	1	0	1	1	0	0	0	1	0	2426	1652	57	0	432	0	C8orf38	8	96047806	Splice_Site	INS	-	TCGA-IF-A4AK-01A-21D-A24N-09	71272264	96047806	50316216	23	11304											
CYP2C9	1559	genome.wustl.edu	37	chr10	96740982	96740982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtgattggcagaaaccGgagcccctgcatgcaagaca	12	11	0	3	rs367826293		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr10:96740982G>A	ENST00000260682.6	+	7	1016	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	335			R -> W (in allele CYP2C9*11; dbSNP:rs28371685). {ECO:0000269|PubMed:11926893, ECO:0000269|PubMed:15469410}.		arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCAGAAACCGGAGCCCCTGC	0.493																																					Ovarian(54;1266 1406 16072 35076)												0								ENSG00000138109	G	GLN/ARG	0,4406		0,0,2203	168	148	155		1004	2.9	0.9	10		155	1,8599		0,1,4299	no	missense	CYP2C9	NM_000771.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	335/491	96740982	1,13005	2203	4300	6503	CYP2C9	SO:0001583	missense	0			-	HGNC	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1004G>A	10.37:g.96740982G>A	ENSP00000260682:p.Arg335Gln	Somatic	0	68	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R335Q	ENST00000260682.6	37	c.1004	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	12.91	2.080551	0.36662	0.0	1.16E-4	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69306	-0.39	3.78	2.87	0.33458	.	0.293574	0.27035	U	0.021241	T	0.62060	0.2397	L	0.52364	1.645	0.09310	N	0.999998	D;D	0.60575	0.988;0.988	P;P	0.46850	0.529;0.529	T	0.56396	-0.7986	10	0.56958	D	0.05	.	9.3127	0.37915	0.1099:0.0:0.8901:0.0	.	335;335	Q5VX92;P11712	.;CP2C9_HUMAN	Q	335	ENSP00000260682:R335Q	ENSP00000260682:R335Q	R	+	2	0	CYP2C9	96730972	0.845000	0.29573	0.868000	0.34077	0.185000	0.23345	3.114000	0.50383	0.948000	0.37687	0.305000	0.20034	CGG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.493	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	protein_coding	OTTHUMT00000049501.1	G	NM_000771	-		96740982	1	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	SNP	0.190	A	A	96740982	G	A	96740982	3	1	157	1	0	0	0	0	1	0	0	0	4170	1116	39	1	1030	1	CYP2C9	10	96740982	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09		96740982	38793765	24	11305											
ABCC2	1244	genome.wustl.edu	37	chr10	101591500	101591500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctcagtgcttggaccagtGactctaaaatcttcaatagc	9	10	4	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr10:101591500G>T	ENST00000370449.4	+	22	3129	c.3016G>T	c.(3016-3018)Gac>Tac	p.D1006Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1006	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTGGACCAGTGACTCTAAAAT	0.453																																																	0								ENSG00000023839						136	129	132					10																	101591500		2203	4300	6503	ABCC2	SO:0001583	missense	0			-	HGNC	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3016G>T	10.37:g.101591500G>T	ENSP00000359478:p.Asp1006Tyr	Somatic	0	68	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.D1006Y	ENST00000370449.4	37	c.3016	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769088	0.90020	.	.	ENSG00000023839	ENST00000370449	D	0.89343	-2.5	5.64	5.64	0.86602	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96145	0.9103	10	0.87932	D	0	-21.1879	19.6781	0.95945	0.0:0.0:1.0:0.0	.	1006	Q92887	MRP2_HUMAN	Y	1006	ENSP00000359478:D1006Y	ENSP00000359478:D1006Y	D	+	1	0	ABCC2	101581490	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	9.866000	0.99616	2.661000	0.90470	0.591000	0.81541	GAC	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.453	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	G	NM_000392	-		101591500	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101591500	G	T	101591500	3	4	157	1	0	0	0	0	1	0	0	0	53	1290	45	3	3102	3	ABCC2	10	101591500	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	4850518	101591500	33943247	25	11306											
C10orf118	55088	genome.wustl.edu	37	chr10	115923008	115923008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcagaggaagtagaggctAtgtggtctgtctctgacatg	13	6	3	3			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr10:115923008A>G	ENST00000369287.3	-	2	286	c.20T>C	c.(19-21)aTa>aCa	p.I7T	C10orf118_ENST00000369285.3_Missense_Mutation_p.I7T|C10orf118_ENST00000369286.1_Missense_Mutation_p.I7T	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		7										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)		AGTAGAGGCTATGTGGTCTGT	0.368																																																	0								ENSG00000165813						121	118	119					10																	115923008		2203	4299	6502	C10orf118	SO:0001583	missense	0			-	HGNC																												ENST00000369287.3:c.20T>C	10.37:g.115923008A>G	ENSP00000358293:p.Ile7Thr	Somatic	0	22	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	8	57.89	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP							superfamily_Prefoldin	p.I7T	ENST00000369287.3	37	c.20	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	A	4.007	-0.001434	0.07819	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33438	1.83;1.41;1.41	5.65	-5.05	0.02955	.	1.177150	0.05791	N	0.610316	T	0.19967	0.0480	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.35992	-0.9766	10	0.49607	T	0.09	.	1.2775	0.02033	0.1853:0.3381:0.2558:0.2209	.	7	Q7Z3E2	CJ118_HUMAN	T	7;113;7;7	ENSP00000358293:I7T;ENSP00000358292:I7T;ENSP00000358291:I7T	ENSP00000358291:I7T	I	-	2	0	C10orf118	115912998	0.010000	0.17322	0.017000	0.16124	0.050000	0.14768	0.426000	0.21363	-0.479000	0.06813	0.529000	0.55759	ATA	-	NULL		0.368	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	protein_coding	OTTHUMT00000050455.1	A		-		115923008	-1	no_errors	ENST00000369287	ensembl	human	known	74_37	missense	SNP	0.000	G	G	115923008	A	G	115923008	3	3	157	1	0	0	0	0	1	0	0	0	1589	449	16	5	2736	5	C10orf118	10	115923008	Missense_Mutation	SNP	A	TCGA-IF-A4AK-01A-21D-A24N-09	14331508	115923008	19611739	26	11307											
CTNND1	1500	genome.wustl.edu	37	chr11	57575904	57575904	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctgcgtcaagagaaggctCtttctgccatagctgacctc	9	13	4	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:57575904C>G	ENST00000399050.4	+	14	2670	c.2134C>G	c.(2134-2136)Ctt>Gtt	p.L712V	CTNND1_ENST00000532463.1_Missense_Mutation_p.L605V|CTNND1_ENST00000528621.1_Missense_Mutation_p.L652V|CTNND1_ENST00000361796.4_Missense_Mutation_p.L706V|CTNND1_ENST00000361332.4_Missense_Mutation_p.L706V|CTNND1_ENST00000358694.6_Missense_Mutation_p.L706V|CTNND1_ENST00000428599.2_Missense_Mutation_p.L706V|CTNND1_ENST00000532649.1_Missense_Mutation_p.L652V|CTNND1_ENST00000529526.1_Missense_Mutation_p.L652V|CTNND1_ENST00000534579.1_Missense_Mutation_p.L652V|CTNND1_ENST00000360682.6_Missense_Mutation_p.L712V|CTNND1_ENST00000532844.1_Missense_Mutation_p.L658V|CTNND1_ENST00000526938.1_Missense_Mutation_p.L712V|CTNND1_ENST00000529919.1_Missense_Mutation_p.L712V|CTNND1_ENST00000426142.2_Missense_Mutation_p.L605V|CTNND1_ENST00000399039.4_Missense_Mutation_p.L712V|CTNND1_ENST00000526772.1_Missense_Mutation_p.L383V|CTNND1_ENST00000526357.1_Missense_Mutation_p.L652V|CTNND1_ENST00000525902.1_Missense_Mutation_p.L389V|CTNND1_ENST00000531014.1_Missense_Mutation_p.L383V|CTNND1_ENST00000528232.1_Missense_Mutation_p.L611V|CTNND1_ENST00000533667.1_Missense_Mutation_p.L383V|CTNND1_ENST00000529986.1_Missense_Mutation_p.L605V|CTNND1_ENST00000532787.1_Missense_Mutation_p.L605V|CTNND1_ENST00000530748.1_Missense_Mutation_p.L658V|CTNND1_ENST00000361391.6_Missense_Mutation_p.L706V|CTNND1_ENST00000529873.1_Missense_Mutation_p.L652V|CTNND1_ENST00000530094.1_Missense_Mutation_p.L605V|CTNND1_ENST00000532245.1_Missense_Mutation_p.L605V|CTNND1_ENST00000527467.1_Missense_Mutation_p.L389V|CTNND1_ENST00000415361.2_Missense_Mutation_p.L611V|CTNND1_ENST00000524630.1_Missense_Mutation_p.L706V	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	712					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGAAGGCTCTTTCTGCCAT	0.468																																																	0								ENSG00000198561						114	116	115					11																	57575904		2036	4198	6234	CTNND1	SO:0001583	missense	0			-	HGNC	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2134C>G	11.37:g.57575904C>G	ENSP00000382004:p.Leu712Val	Somatic	0	79	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L712V	ENST00000399050.4	37	c.2134	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980137	0.92982	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.999;0.998;0.998;0.998;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.996;0.998;0.996;0.996;0.996;0.999;0.996;0.998	T	0.80630	-0.1297	10	0.87932	D	0	-2.0762	18.8697	0.92308	0.0:1.0:0.0:0.0	.	712;706;712;605;652;652;706;712;712	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	V	706;712;712;712;706;652;605;712;706;706;605;605;706;605;383;652;652;658;706;389;611;383;383;652;389;658;652;605;611;605;652;712	ENSP00000436543:L706V;ENSP00000434808:L712V;ENSP00000381996:L712V;ENSP00000353902:L712V;ENSP00000354907:L706V;ENSP00000436323:L652V;ENSP00000409930:L605V;ENSP00000382004:L712V;ENSP00000354785:L706V;ENSP00000354823:L706V;ENSP00000432075:L605V;ENSP00000437156:L605V;ENSP00000351527:L706V;ENSP00000434949:L605V;ENSP00000437051:L383V;ENSP00000435379:L652V;ENSP00000432243:L652V;ENSP00000436744:L658V;ENSP00000413586:L706V;ENSP00000434900:L389V;ENSP00000435266:L611V;ENSP00000432623:L383V;ENSP00000433158:L383V;ENSP00000435494:L652V;ENSP00000434672:L389V;ENSP00000433276:L658V;ENSP00000433334:L652V;ENSP00000437327:L605V;ENSP00000403518:L611V;ENSP00000434017:L605V;ENSP00000435789:L652V;ENSP00000432041:L712V	ENSP00000351527:L706V	L	+	1	0	CTNND1	57332480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.570000	0.86706	0.467000	0.42956	CTT	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	protein_coding	OTTHUMT00000393944.1	C	NM_001331	-		57575904	1	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	SNP	1.000	G	G	57575904	C	G	57575904	3	3	157	1	0	0	0	0	1	0	0	0	4021	913	32	4	2180	4	CTNND1	11	57575904	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09		57575904	77430612	27	11308											
STIP1	10963	genome.wustl.edu	37	chr11	63965443	63965443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgctcaagaaatgccaGcaggtgcgtaggaaaagaat	13	6	1	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:63965443G>A	ENST00000305218.4	+	8	1167	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	STIP1_ENST00000538945.1_Silent_p.Q316Q|STIP1_ENST00000358794.5_Silent_p.Q387Q	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	340					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAATGCCAGCAGGTGCGTA	0.373																																																	0								ENSG00000168439						114	124	120					11																	63965443		2200	4297	6497	STIP1	SO:0001819	synonymous_variant	0			-	HGNC	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1020G>A	11.37:g.63965443G>A		Somatic	0	50	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q340	ENST00000305218.4	37	c.1020	CCDS8058.1	11																																																																																			-	pfscan_TPR-contain_dom		0.373	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	protein_coding	OTTHUMT00000396289.2	G	NM_006819	-		63965443	1	no_errors	ENST00000305218	ensembl	human	known	74_37	silent	SNP	0.997	A	A	63965443	G	A	63965443	2	1	157	1	0	0	0	0	0	0	0	1	15292	962	34	2		2	STIP1	11	63965443	Silent	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	6389539	63965443	71041073	28	11309											
YAP1	10413	genome.wustl.edu	37	chr11	101985018	101985018	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctggcccagcagctacaccCacagctcagcatcttcgaca	7	17	3	0	rs143682472	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:101985018C>G	ENST00000282441.5	+	2	853	c.465C>G	c.(463-465)ccC>ccG	p.P155P	YAP1_ENST00000531439.1_Silent_p.P155P|YAP1_ENST00000345877.2_Silent_p.P155P|YAP1_ENST00000526343.1_Silent_p.P155P|YAP1_ENST00000537274.1_Silent_p.P155P|YAP1_ENST00000524575.1_5'UTR	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	155					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CAGCTACACCCACAGCTCAGC	0.522													C|||	7	0.00139776	0	0.0014	5008	,	,		13365	0		0.001	False		,,,				2504	0.0051				Colon(50;247 1103 7861 28956)												0								ENSG00000137693	C	,,,	1,4405	2.1+/-5.4	0,1,2202	99	97	97		465,465,,465	-6.2	0	11	dbSNP_134	97	6,8592	5.0+/-18.6	0,6,4293	no	coding-synonymous,coding-synonymous,utr-5,coding-synonymous	YAP1	NM_001130145.2,NM_001195044.1,NM_001195045.1,NM_006106.4	,,,	0,7,6495	GG,GC,CC		0.0698,0.0227,0.0538	,,,	155/505,155/489,,155/451	101985018	7,12997	2203	4299	6502	YAP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.465C>G	11.37:g.101985018C>G		Somatic	0	58	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP							pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P155	ENST00000282441.5	37	c.465	CCDS44716.1	11																																																																																			-	NULL		0.522	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	protein_coding	OTTHUMT00000394151.1	C	NM_006106	rs143682472		101985018	1	no_errors	ENST00000282441	ensembl	human	known	74_37	silent	SNP	0.000	G	G	101985018	C	G	101985018	2	3	157	1	0	0	0	0	0	0	0	1	17473	581	21	4		4	YAP1	11	101985018	Silent	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09	38019575	101985018	33021498	29	11310											
ITPR2	3709	genome.wustl.edu	37	chr12	26839531	26839531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttctcccctgcctggCgttttttctttgaagttgga	9	10	3	2	rs377464722		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr12:26839531C>T	ENST00000381340.3	-	11	1447	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	344	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCCTGCCTGGCGTTTTTTCTT	0.418																																																	0								ENSG00000123104	C	HIS/ARG	1,3743		0,1,1871	187	179	181		1031	4.9	1	12		181	0,8218		0,0,4109	no	missense	ITPR2	NM_002223.2	29	0,1,5980	TT,TC,CC		0.0,0.0267,0.0084	benign	344/2702	26839531	1,11961	1872	4109	5981	ITPR2	SO:0001583	missense	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1031G>A	12.37:g.26839531C>T	ENSP00000370744:p.Arg344His	Somatic	0	37	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	O94773	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R344H	ENST00000381340.3	37	c.1031	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933247	0.52866	2.67E-4	0.0	ENSG00000123104	ENST00000381340	D	0.87179	-2.22	4.92	4.92	0.64577	MIR motif (2);MIR (2);	0.276434	0.37669	N	0.001992	D	0.85336	0.5673	L	0.49350	1.555	0.80722	D	1	B	0.13145	0.007	B	0.19391	0.025	T	0.81904	-0.0719	10	0.51188	T	0.08	.	18.3276	0.90259	0.0:1.0:0.0:0.0	.	344	Q14571	ITPR2_HUMAN	H	344	ENSP00000370744:R344H	ENSP00000370744:R344H	R	-	2	0	ITPR2	26730798	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.499000	0.66937	2.544000	0.85801	0.650000	0.86243	CGC	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	C	NM_002223	-		26839531	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26839531	C	T	26839531	3	4	157	1	0	0	0	0	1	0	0	0	7923	768	27	1	7262	1	ITPR2	12	26839531	Missense_Mutation	SNP	C	TCGA-IF-A4AK-01A-21D-A24N-09		26839531	107012364	30	11311											
TBC1D15	64786	genome.wustl.edu	37	chr12	72287041	72287041	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacttcttgtgaattgtcaGaataagagtctttcacagtc	7	8	4	3			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr12:72287041G>T	ENST00000550746.1	+	6	658	c.594G>T	c.(592-594)caG>caT	p.Q198H	TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q206H|TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q198H|TBC1D15_ENST00000393309.3_5'UTR	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	198					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATTGTCAGAATAAGAGTC	0.313																																																	0								ENSG00000121749						81	81	81					12																	72287041		2202	4293	6495	TBC1D15	SO:0001583	missense	0			-	HGNC	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.594G>T	12.37:g.72287041G>T	ENSP00000448182:p.Gln198His	Somatic	0	30	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP							pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q198H	ENST00000550746.1	37	c.594	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	G	0.931	-0.712662	0.03206	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.5	1.23	0.21249	Domain of unknown function DUF3548 (1);	0.521170	0.21745	N	0.069766	T	0.10035	0.0246	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.35176	-0.9799	10	0.02654	T	1	-3.3722	8.2531	0.31739	0.201:0.0:0.6869:0.1121	.	206;198;198	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	H	99;198;99;206;198	ENSP00000449643:Q99H;ENSP00000448182:Q198H;ENSP00000418091:Q99H;ENSP00000318262:Q206H;ENSP00000420678:Q198H	ENSP00000318262:Q206H	Q	+	3	2	TBC1D15	70573308	0.996000	0.38824	0.997000	0.53966	0.879000	0.50718	0.206000	0.17375	0.006000	0.14734	-1.094000	0.02160	CAG	-	pfam_DUF3548		0.313	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	protein_coding	OTTHUMT00000351266.2	G	NM_022771	-		72287041	1	no_errors	ENST00000550746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72287041	G	T	72287041	3	4	157	1	0	0	0	0	1	0	0	0	15611	933	33	3	740	3	TBC1D15	12	72287041	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	45447510	72287041	61564854	31	11312											
ADAMTS17	170691	genome.wustl.edu	37	chr15	100739618	100739618	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcacacacctcctaaGtaagcaattcctgcagcaga	7	14	0	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr15:100739618G>T	ENST00000268070.4	-	8	1191	c.1086C>A	c.(1084-1086)taC>taA	p.Y362*	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	362	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		CACCTCCTAAGTAAGCAATTC	0.527																																																	0								ENSG00000140470						253	206	222					15																	100739618		2203	4300	6503	ADAMTS17	SO:0001587	stop_gained	0			-	HGNC	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.1086C>A	15.37:g.100739618G>T	ENSP00000268070:p.Tyr362*	Somatic	0	52	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	62	15.07	Q2I7G4|Q6ZN75	Nonsense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y362*	ENST00000268070.4	37	c.1086	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	38	7.001835	0.97994	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	.	.	.	5.55	3.66	0.41972	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6489	0.51277	0.1984:0.0:0.8016:0.0	.	.	.	.	X	362;119	.	ENSP00000268070:Y362X	Y	-	3	2	ADAMTS17	98557141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.086000	0.41643	1.332000	0.45431	0.655000	0.94253	TAC	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	G	NM_139057	-		100739618	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	100739618	G	T	100739618	4	4	157	1	0	0	0	0	0	1	0	0	262	1024	36	3	2261	3	ADAMTS17	15	100739618	Nonsense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09		100739618	1791774	32	11313											
HS3ST6	64711	genome.wustl.edu	37	chr16	1962101	1962101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaccacgatcagcttcgtGtccggggacatggcgtggat	13	12	1	0			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr16:1962101G>T	ENST00000293937.3	-	2	518	c.519C>A	c.(517-519)gaC>gaA	p.D173E	HS3ST6_ENST00000454677.2_Missense_Mutation_p.D190E|HS3ST6_ENST00000443547.1_Missense_Mutation_p.D142E			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	173					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCAGCTTCGTGTCCGGGGACA	0.682																																																	0								ENSG00000162040						20	23	22					16																	1962101		2196	4299	6495	HS3ST6	SO:0001583	missense	0			-	HGNC			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.519C>A	16.37:g.1962101G>T	ENSP00000293937:p.Asp173Glu	Somatic	0	95	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	66	43.59	Q96RX7	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D173E	ENST00000293937.3	37	c.519		16	.	.	.	.	.	.	.	.	.	.	g	9.903	1.207460	0.22205	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.56444	0.46;0.46	4.83	3.85	0.44370	Sulfotransferase domain (1);	0.401910	0.29126	N	0.013071	T	0.41673	0.1169	L	0.39514	1.22	0.29619	N	0.846341	B	0.02656	0.0	B	0.04013	0.001	T	0.40515	-0.9559	10	0.51188	T	0.08	.	9.1504	0.36959	0.1714:0.0:0.8286:0.0	.	173	Q96QI5	HS3S6_HUMAN	E	173;142;212	ENSP00000293937:D173E;ENSP00000390354:D142E	ENSP00000293937:D173E	D	-	3	2	HS3ST6	1902102	1.000000	0.71417	0.871000	0.34182	0.965000	0.64279	1.593000	0.36686	1.006000	0.39211	0.500000	0.49745	GAC	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.682	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	HS3ST6	protein_coding		G	NM_001009606	-		1962101	-1	no_errors	ENST00000293937	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1962101	G	T	1962101	3	4	157	1	0	0	0	0	1	0	0	0	7371	1368	48	3	513	3	HS3ST6	16	1962101	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09		1962101	88392652	33	11314											
PRPF8	10594	genome.wustl.edu	37	chr17	1559969	1559969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagcatgcccttcctGgtgacaatgatctgcttggg	13	11	1	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr17:1559969G>T	ENST00000572621.1	-	34	5857	c.5592C>A	c.(5590-5592)acC>acA	p.T1864T	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Silent_p.T1864T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1864	Involved in interaction with pre-mRNA 5' splice site.|RNase H 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)			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)		TGCCCTTCCTGGTGACAATGA	0.547																																																	0								ENSG00000174231						61	50	54					17																	1559969		2203	4300	6503	PRPF8	SO:0001819	synonymous_variant	0			-	HGNC	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.5592C>A	17.37:g.1559969G>T		Somatic	0	38	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O14547|O75965	Silent	SNP							pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.T1864	ENST00000572621.1	37	c.5592	CCDS11010.1	17																																																																																			-	pfam_PRP8_domainIV		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	G		-		1559969	-1	no_errors	ENST00000304992	ensembl	human	known	74_37	silent	SNP	0.996	T	T	1559969	G	T	1559969	2	4	157	1	0	0	0	0	0	0	0	1	12580	1335	47	3		3	PRPF8	17	1559969	Silent	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09		1559969	79635241	34	11315											
PTPRS	5802	genome.wustl.edu	37	chr19	5219990	5219990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagcacgaagaggacaTagcggtggccgggctccagg	17	11	0	1			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:5219990T>C	ENST00000587303.1	-	21	3824	c.3725A>G	c.(3724-3726)tAt>tGt	p.Y1242C	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.Y1238C|PTPRS_ENST00000372412.4_Missense_Mutation_p.Y1243C|PTPRS_ENST00000588012.1_Missense_Mutation_p.Y1220C|PTPRS_ENST00000348075.2_Missense_Mutation_p.Y1220C|PTPRS_ENST00000353284.2_Missense_Mutation_p.Y811C|PTPRS_ENST00000592099.1_Missense_Mutation_p.Y811C|PTPRS_ENST00000357368.4_Missense_Mutation_p.Y1242C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1242					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GAAGAGGACATAGCGGTGGCC	0.602																																																	0								ENSG00000105426						70	82	78					19																	5219990		2203	4299	6502	PTPRS	SO:0001583	missense	0			-	HGNC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3725A>G	19.37:g.5219990T>C	ENSP00000467537:p.Tyr1242Cys	Somatic	0	110	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	89	13.59	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.Y1243C	ENST00000587303.1	37	c.3728	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961230	0.74016	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.69926	-0.38;-0.34;-0.35;-0.44;-0.26	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000012	D	0.83294	0.5223	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.996;1.0;0.951;0.999;0.999	D	0.86776	0.1976	10	0.87932	D	0	.	13.1939	0.59728	0.0:0.0:0.0:1.0	.	824;811;815;1220;1242;837	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	C	837;1243;1242;1242;1233;1238;1220;824;815;811	ENSP00000361489:Y1243C;ENSP00000349932:Y1242C;ENSP00000262963:Y1238C;ENSP00000269907:Y1220C;ENSP00000327313:Y811C	ENSP00000262963:Y1238C	Y	-	2	0	PTPRS	5170990	1.000000	0.71417	0.464000	0.27143	0.889000	0.51656	7.708000	0.84633	1.718000	0.51419	0.528000	0.53228	TAT	-	NULL		0.602	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	protein_coding	OTTHUMT00000450762.2	T		-		5219990	-1	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	SNP	0.998	C	C	5219990	T	C	5219990	3	2	157	1	0	0	0	0	1	0	0	0	12819	1406	49	5	2189	5	PTPRS	19	5219990	Missense_Mutation	SNP	T	TCGA-IF-A4AK-01A-21D-A24N-09		5219990	53908993	35	11316											
ZNF284	342909	genome.wustl.edu	37	chr19	44590261	44590261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtgatgtgtgtagtaaGgcatttagtcagaactcaca	11	5	2	2			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:44590261G>T	ENST00000421176.3	+	5	846	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	210					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)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TGTGTAGTAAGGCATTTAGTC	0.413																																																	0								ENSG00000186026						76	80	78					19																	44590261		2190	4299	6489	ZNF284	SO:0001583	missense	0			-	HGNC	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.630G>T	19.37:g.44590261G>T	ENSP00000411032:p.Lys210Asn	Somatic	0	36	0		0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q86WM1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K210N	ENST00000421176.3	37	c.630	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201873	0.58234	.	.	ENSG00000186026	ENST00000421176	T	0.07908	3.15	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	M	0.93507	3.425	0.26797	N	0.969283	D	0.89917	1.0	D	0.97110	1.0	T	0.09729	-1.0661	9	0.87932	D	0	.	6.8185	0.23845	0.1422:0.0:0.8578:0.0	.	210	Q2VY69	ZN284_HUMAN	N	210	ENSP00000411032:K210N	ENSP00000411032:K210N	K	+	3	2	ZNF284	49282101	0.100000	0.21855	0.038000	0.18304	0.518000	0.34316	0.333000	0.19768	1.430000	0.47334	0.462000	0.41574	AAG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	protein_coding	OTTHUMT00000460473.1	G	NM_001037813	-		44590261	1	no_errors	ENST00000421176	ensembl	human	known	74_37	missense	SNP	0.888	T	T	44590261	G	T	44590261	3	4	157	1	0	0	0	0	1	0	0	0	17828	991	35	3	644	3	ZNF284	19	44590261	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	39370271	44590261	14538722	36	11317											
VASP	7408	genome.wustl.edu	37	chr19	46027364	46027364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatccccagaatctgtgcGgagaccctgggagaagaaca	11	12	1	4	rs371283026		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:46027364G>A	ENST00000245932.6	+	10	1276	c.920G>A	c.(919-921)cGg>cAg	p.R307Q		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	307	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GAATCTGTGCGGAGACCCTGG	0.562											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000125753		GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	87	85	85		920	3.6	1	19		85	0,8600		0,0,4300	no	missense	VASP	NM_003370.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	307/381	46027364	1,13005	2203	4300	6503	VASP	SO:0001583	missense	0			-	HGNC		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.920G>A	19.37:g.46027364G>A	ENSP00000245932:p.Arg307Gln	Somatic	0	36	0	936	0.611813008693594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP							pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R307Q	ENST00000245932.6	37	c.920	CCDS33051.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150418	0.78001	2.27E-4	0.0	ENSG00000125753	ENST00000245932	T	0.72167	-0.63	4.66	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.65943	0.2740	M	0.78456	2.415	0.33283	D	0.562463	B	0.24533	0.105	B	0.12156	0.007	T	0.71237	-0.4652	10	0.44086	T	0.13	-6.9515	7.4302	0.27124	0.1928:0.0:0.8072:0.0	.	307	P50552	VASP_HUMAN	Q	307	ENSP00000245932:R307Q	ENSP00000245932:R307Q	R	+	2	0	VASP	50719204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.858000	0.55979	2.419000	0.82065	0.655000	0.94253	CGG	-	pirsf_Vasodilator_phosphoprotein		0.562	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	protein_coding	OTTHUMT00000459589.1	G		-		46027364	1	no_errors	ENST00000245932	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46027364	G	A	46027364	3	1	157	1	0	0	0	0	1	0	0	0	17135	1116	39	1	958	1	VASP	19	46027364	Missense_Mutation	SNP	G	TCGA-IF-A4AK-01A-21D-A24N-09	1437103	46027364	13101619	37	11318											
SYCP1	6847	genome.wustl.edu	37	chr1	115524091	115524091	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagataaaagagactatctGtggacatctgccaaaaatac	7	7	2	2			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr1:115524091G>T	ENST00000369522.3	+	29	2757	c.2517G>T	c.(2515-2517)ctG>ctT	p.L839L	SYCP1_ENST00000369518.1_Silent_p.L839L|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	839					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAGACTATCTGTGGACATCTG	0.303																																																	0								ENSG00000198765						78	80	80					1																	115524091		2203	4297	6500	SYCP1	SO:0001819	synonymous_variant	0			-	HGNC	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2517G>T	1.37:g.115524091G>T		Somatic	0	31	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	O14963|Q5VXJ6	Silent	SNP							pfam_SCP-1	p.L839	ENST00000369522.3	37	c.2517	CCDS879.1	1																																																																																			-	NULL		0.303	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	protein_coding	OTTHUMT00000033386.1	G	NM_003176	-		115524091	1	no_errors	ENST00000369518	ensembl	human	known	74_37	silent	SNP	0.025	T	T	115524091	G	T	115524091	2	4	158	1	0	0	0	0	0	0	0	1	15438	1364	48	3		3	SYCP1	1	115524091	Silent	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		115524091	133726530	1	11319											
LRRN2	10446	genome.wustl.edu	37	chr1	204587896	204587896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggaagggcacctcacGgaccgggaggcgctggaggt	17	13	1	0	rs141763834		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr1:204587896G>A	ENST00000367175.1	-	1	3437	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.R409C|LRRN2_ENST00000367176.3_Missense_Mutation_p.R409C			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	409	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R409C(1)		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)			GGCACCTCACGGACCGGGAGG	0.657																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000170382	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	39	43	41		1225,1225	5.7	0.9	1	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LRRN2	NM_006338.2,NM_201630.1	180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	409/714,409/714	204587896	2,13004	2203	4300	6503	LRRN2	SO:0001583	missense	0			-	HGNC	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.1225C>T	1.37:g.204587896G>A	ENSP00000356143:p.Arg409Cys	Somatic	0	68	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	21	56.25	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R409C	ENST00000367175.1	37	c.1225	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269596	0.59540	0.0	2.33E-4	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.61040	0.14;0.14;0.14	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.42420	D	0.000712	T	0.72399	0.3455	M	0.64404	1.975	0.53005	D	0.999968	D	0.89917	1.0	D	0.70935	0.971	T	0.74453	-0.3660	10	0.87932	D	0	.	14.2667	0.66123	0.0:0.0:0.851:0.149	.	409	O75325	LRRN2_HUMAN	C	409	ENSP00000356144:R409C;ENSP00000356145:R409C;ENSP00000356143:R409C	ENSP00000356143:R409C	R	-	1	0	LRRN2	202854519	0.985000	0.35326	0.898000	0.35279	0.887000	0.51463	4.083000	0.57643	2.684000	0.91462	0.557000	0.71058	CGT	-	smart_Cys-rich_flank_reg_C		0.657	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	protein_coding	OTTHUMT00000089894.1	G	NM_006338	rs141763834		204587896	-1	no_errors	ENST00000367175	ensembl	human	known	74_37	missense	SNP	0.998	A	A	204587896	G	A	204587896	3	1	158	1	0	0	0	0	1	0	0	0	9037	1116	39	1	920	1	LRRN2	1	204587896	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	89063805	204587896	44662725	2	11320											
SPATA17	128153	genome.wustl.edu	37	chr1	217822309	217822309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaagttcgggcatatAtcaggtatattgcttttgtc	10	6	2	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr1:217822309A>G	ENST00000366933.4	+	2	209	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	52	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCGGGCATATATCAGGTATAT	0.299																																																	0								ENSG00000162814						108	106	107					1																	217822309		2203	4299	6502	SPATA17	SO:0001583	missense	0			-	HGNC	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.154A>G	1.37:g.217822309A>G	ENSP00000355900:p.Ile52Val	Somatic	0	35	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A5D6N2	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.I52V	ENST00000366933.4	37	c.154	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479535	0.44044	.	.	ENSG00000162814	ENST00000366933	T	0.71341	-0.56	5.33	1.62	0.23740	.	0.425883	0.24037	N	0.042137	T	0.70622	0.3245	M	0.62723	1.935	0.27295	N	0.957742	P	0.48998	0.918	P	0.51742	0.678	T	0.62338	-0.6875	10	0.48119	T	0.1	-1.6865	6.1218	0.20157	0.6067:0.3111:0.0822:0.0	.	52	Q96L03	SPT17_HUMAN	V	52	ENSP00000355900:I52V	ENSP00000355900:I52V	I	+	1	0	SPATA17	215888932	0.995000	0.38212	0.937000	0.37676	0.848000	0.48234	0.903000	0.28475	0.076000	0.16826	-1.300000	0.01332	ATC	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.299	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	protein_coding	OTTHUMT00000092433.2	A	NM_138796	-		217822309	1	no_errors	ENST00000366933	ensembl	human	known	74_37	missense	SNP	0.992	G	G	217822309	A	G	217822309	3	3	158	1	0	0	0	0	1	0	0	0	15009	449	16	5	160	5	SPATA17	1	217822309	Missense_Mutation	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09	13234413	217822309	31428312	3	11321											
C2orf42	54980	genome.wustl.edu	37	chr2	70387846	70387846	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgctttctacttccActttagggcatttaaatagc	6	10	1	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr2:70387846A>T	ENST00000264434.2	-	9	1806	c.1427T>A	c.(1426-1428)gTg>gAg	p.V476E	C2orf42_ENST00000420306.1_Missense_Mutation_p.V476E	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	476										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTCTACTTCCACTTTAGGGCA	0.413																																																	0								ENSG00000115998						137	134	135					2																	70387846		2203	4300	6503	C2orf42	SO:0001583	missense	0			-	HGNC	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1427T>A	2.37:g.70387846A>T	ENSP00000264434:p.Val476Glu	Somatic	0	56	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	41	48.75	D6W5G3|Q9H629	Missense_Mutation	SNP							NULL	p.V476E	ENST00000264434.2	37	c.1427	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655515	0.47467	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	D;D	0.93189	-3.18;-3.18	5.24	5.24	0.73138	.	0.230495	0.45361	D	0.000369	D	0.94394	0.8197	L	0.36672	1.1	0.47994	D	0.999567	D	0.64830	0.994	D	0.73380	0.98	D	0.94890	0.8047	10	0.66056	D	0.02	-19.916	14.1248	0.65213	1.0:0.0:0.0:0.0	.	476	Q9NWW7	CB042_HUMAN	E	476	ENSP00000264434:V476E;ENSP00000404515:V476E	ENSP00000264434:V476E	V	-	2	0	C2orf42	70241350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.267000	0.72546	2.201000	0.70794	0.528000	0.53228	GTG	-	NULL		0.413	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	protein_coding	OTTHUMT00000251840.1	A	NM_017880	-		70387846	-1	no_errors	ENST00000264434	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70387846	A	T	70387846	3	4	158	1	0	0	0	0	1	0	0	0	2168	159	6	5	305	5	C2orf42	2	70387846	Missense_Mutation	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09		70387846	172811527	4	11322											
YSK4	80122	genome.wustl.edu	37	chr2	135744087	135744087	+	Frame_Shift_Del	DEL	G	G	-													ggtgtctgagccaagttcatGggatgaatttcatctttgga							TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr2:135744087delG	ENST00000375845.3	-	7	2385	c.2355delC	c.(2353-2355)cccfs	p.P785fs	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Frame_Shift_Del_p.P672fs|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Frame_Shift_Del_p.P802fs	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	785							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CCAAGTTCATGGGATGAATTT	0.393																																																	0								ENSG00000176601						64	64	64					2																	135744087		2203	4300	6503	MAP3K19	SO:0001589	frameshift_variant	0				HGNC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2355delC	2.37:g.135744087delG	ENSP00000365005:p.Pro785fs	Somatic	0	31	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M786fs	ENST00000375845.3	37	c.2355	CCDS2176.2	2																																																																																			-	NULL		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	protein_coding	OTTHUMT00000158244.1	G	NM_025052			135744087	-1	no_errors	ENST00000375845	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	135744087	G	-	135744087	7	5	158	1	0	1	0	1	0	0	0	0	17502	1335	47	0	1647	0	YSK4	2	135744087	Frame_Shift_Del	DEL	G	TCGA-IS-A3K6-01A-11D-A21Q-09	65356241	135744087	107455286	5	11323											
GCA	25801	genome.wustl.edu	37	chr2	163204108	163204108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggaaattttagcattcaGgtgccaggaatgcagatggg	13	5	1	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr2:163204108G>T	ENST00000437150.2	+	2	209	c.48G>T	c.(46-48)caG>caT	p.Q16H	GCA_ENST00000233612.4_5'UTR|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_5'UTR	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	16					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTAGCATTCAGGTGCCAGGAA	0.393																																																	0								ENSG00000115271						75	73	74					2																	163204108		2203	4300	6503	GCA	SO:0001583	missense	0			-	HGNC	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"EF-hand domain containing"	15990	protein-coding gene	gene with protein product		607030	"grancalcin, EF-hand calcium-binding protein"			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.48G>T	2.37:g.163204108G>T	ENSP00000394842:p.Gln16His	Somatic	0	57	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q16H	ENST00000437150.2	37	c.48	CCDS2218.1	2	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953274	0.18431	.	.	ENSG00000115271	ENST00000446271;ENST00000437150	D;T	0.89552	-2.53;-1.04	4.64	0.692	0.18050	.	8.914510	0.01307	U	0.010499	D	0.85102	0.5620	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.70223	-0.4931	10	0.66056	D	0.02	.	1.8595	0.03186	0.1575:0.1357:0.4277:0.2791	.	16	P28676	GRAN_HUMAN	H	42;16	ENSP00000393218:Q42H;ENSP00000394842:Q16H	ENSP00000394842:Q16H	Q	+	3	2	GCA	162912354	0.998000	0.40836	0.942000	0.38095	0.425000	0.31504	0.154000	0.16343	-0.096000	0.12329	-0.218000	0.12543	CAG	-	NULL		0.393	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCA	protein_coding	OTTHUMT00000255080.3	G	NM_012198	-		163204108	1	no_errors	ENST00000437150	ensembl	human	known	74_37	missense	SNP	0.999	T	T	163204108	G	T	163204108	3	4	158	1	0	0	0	0	1	0	0	0	6285	991	35	3	54	3	GCA	2	163204108	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	27460021	163204108	79995265	6	11324											
GRK7	131890	genome.wustl.edu	37	chr3	141535883	141535883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtctggcgtgtgtttGttattgtaaattgctctctt	9	7	2	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr3:141535883G>A	ENST00000264952.2	+	4	1790	c.1653G>A	c.(1651-1653)ttG>ttA	p.L551L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	551					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCGTGTGTTTGTTATTGTAAA	0.458																																																	0								ENSG00000114124						129	120	123					3																	141535883		2203	4300	6503	GRK7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1653G>A	3.37:g.141535883G>A		Somatic	0	16	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.L551	ENST00000264952.2	37	c.1653	CCDS3120.1	3																																																																																			-	NULL		0.458	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	protein_coding	OTTHUMT00000353168.1	G	NM_139209	-		141535883	1	no_errors	ENST00000264952	ensembl	human	known	74_37	silent	SNP	0.938	A	A	141535883	G	A	141535883	2	1	158	1	0	0	0	0	0	0	0	1	6796	1368	48	2		2	GRK7	3	141535883	Silent	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		141535883	56486547	7	11325											
ALB	213	genome.wustl.edu	37	chr4	74272407	74272407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagatcatgtaaaattaGtgaatgaagtaactgaattt	8	2	1	5			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr4:74272407G>T	ENST00000295897.4	+	3	288	c.199G>T	c.(199-201)Gtg>Ttg	p.V67L	ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.V67L	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTAAAATTAGTGAATGAAGT	0.333																																																	0								ENSG00000163631						121	115	117					4																	74272407		2203	4300	6503	ALB	SO:0001583	missense	0			-	HGNC	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.199G>T	4.37:g.74272407G>T	ENSP00000295897:p.Val67Leu	Somatic	0	55	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP							pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB	p.V67L	ENST00000295897.4	37	c.199	CCDS3555.1	4	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029784	0.54790	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.75704	-0.96;-0.96;-0.96	5.28	1.63	0.23807	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.235202	0.34853	N	0.003624	T	0.77751	0.4177	M	0.87900	2.915	0.19575	N	0.999968	P;P	0.45474	0.859;0.56	P;P	0.45474	0.482;0.454	T	0.71159	-0.4674	10	0.66056	D	0.02	-5.3343	9.6685	0.39998	0.2962:0.0:0.7038:0.0	.	67;67	A6NBZ8;P02768	.;ALBU_HUMAN	L	69;67;67;67;76	ENSP00000392541:V69L;ENSP00000295897:V67L;ENSP00000422784:V67L	ENSP00000295897:V67L	V	+	1	0	ALB	74491271	0.996000	0.38824	0.084000	0.20598	0.897000	0.52465	1.869000	0.39519	0.397000	0.25310	-0.142000	0.14014	GTG	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP		0.333	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALB	protein_coding	OTTHUMT00000252173.3	G	NM_000477	-		74272407	1	no_errors	ENST00000295897	ensembl	human	known	74_37	missense	SNP	0.122	T	T	74272407	G	T	74272407	3	4	158	1	0	0	0	0	1	0	0	0	486	1029	36	3	209	3	ALB	4	74272407	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		74272407	116881869	8	11326											
DNAH5	1767	genome.wustl.edu	37	chr5	13882857	13882857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagttcattttctcccAtttcaacatcagaatcactg	4	11	5	2			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr5:13882857A>T	ENST00000265104.4	-	21	3346	c.3242T>A	c.(3241-3243)aTg>aAg	p.M1081K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1081	Stem. {ECO:0000250}.		M -> V (in dbSNP:rs16902880).		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)					ATTTTCTCCCATTTCAACATC	0.318									Kartagener syndrome																																								0								ENSG00000039139						115	123	120					5																	13882857		2203	4299	6502	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.3242T>A	5.37:g.13882857A>T	ENSP00000265104:p.Met1081Lys	Somatic	0	35	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M1081K	ENST00000265104.4	37	c.3242	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.084381	0.00371	.	.	ENSG00000039139	ENST00000265104	T	0.20881	2.04	5.98	0.884	0.19182	.	0.716858	0.14088	N	0.342213	T	0.11707	0.0285	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.24483	T	0.36	.	4.969	0.14105	0.6147:0.0:0.2629:0.1224	.	1081	Q8TE73	DYH5_HUMAN	K	1081	ENSP00000265104:M1081K	ENSP00000265104:M1081K	M	-	2	0	DNAH5	13935857	0.003000	0.15002	0.000000	0.03702	0.012000	0.07955	0.547000	0.23299	-0.066000	0.12998	-1.281000	0.01382	ATG	-	NULL		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	A	NM_001369	-		13882857	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	0.000	T	T	13882857	A	T	13882857	3	4	158	1	0	0	0	0	1	0	0	0	4606	217	8	5	10868	5	DNAH5	5	13882857	Missense_Mutation	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09		13882857	167032403	9	11327											
RGS7BP	401190	genome.wustl.edu	37	chr5	63802483	63802483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaatgggcgcaaaaagcGccccagccggtccacccgct	11	17	0	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr5:63802483G>A	ENST00000334025.2	+	1	358	c.32G>A	c.(31-33)cGc>cAc	p.R11H	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	11					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CGCAAAAAGCGCCCCAGCCGG	0.687																																																	0								ENSG00000186479						21	28	26					5																	63802483		2202	4300	6502	RGS7BP	SO:0001583	missense	0			-	HGNC	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.32G>A	5.37:g.63802483G>A	ENSP00000334851:p.Arg11His	Somatic	0	32	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	42.86	B7Z3X1	Missense_Mutation	SNP							NULL	p.R11H	ENST00000334025.2	37	c.32	CCDS34170.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780531	0.90195	.	.	ENSG00000186479	ENST00000334025	T	0.44083	0.93	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.59134	-0.7511	10	0.72032	D	0.01	-9.8723	17.9759	0.89127	0.0:0.0:1.0:0.0	.	11	Q6MZT1	R7BP_HUMAN	H	11	ENSP00000334851:R11H	ENSP00000334851:R11H	R	+	2	0	RGS7BP	63838239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.491000	0.90468	2.398000	0.81561	0.563000	0.77884	CGC	-	NULL		0.687	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	protein_coding	OTTHUMT00000368464.1	G	NM_001029875	-		63802483	1	no_errors	ENST00000334025	ensembl	human	known	74_37	missense	SNP	1.000	A	A	63802483	G	A	63802483	3	1	158	1	0	0	0	0	1	0	0	0	13319	1087	38	1	34	1	RGS7BP	5	63802483	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	49919626	63802483	117112777	10	11328											
HIST1H4F	8361	genome.wustl.edu	37	chr6	26240683	26240683	+	Frame_Shift_Del	DEL	T	T	-													agaggcaaaggtggtaaaggTttaggaaagggaggcgccaa							TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr6:26240683delT	ENST00000377745.2	+	1	123	c.30delT	c.(28-30)ggtfs	p.G10fs		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	10					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GTGGTAAAGGTTTAGGAAAGG	0.517																																																	0								ENSG00000198327						42	44	43					6																	26240683		2203	4300	6503	HIST1H4F	SO:0001589	frameshift_variant	0				HGNC	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"Histones / Replication-dependent"	4783	protein-coding gene	gene with protein product		602824	"H4 histone family, member C", "histone 1, H4f"	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.30delT	6.37:g.26240683delT	ENSP00000366974:p.Gly10fs	Somatic	0	21	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Del	DEL							pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L11fs	ENST00000377745.2	37	c.30	CCDS4598.1	6																																																																																			-	superfamily_Histone-fold,prints_Histone_H4		0.517	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	protein_coding	OTTHUMT00000040106.1	T	NM_003540			26240683	1	no_errors	ENST00000377745	ensembl	human	known	74_37	frame_shift_del	DEL	0.071	-	-	26240683	T	-	26240683	7	5	158	1	0	1	0	1	0	0	0	0	7172	1712	60	0	32	0	HIST1H4F	6	26240683	Frame_Shift_Del	DEL	T	TCGA-IS-A3K6-01A-11D-A21Q-09		26240683	144874384	11	11329											
HLA-DOB	3112	genome.wustl.edu	37	chr6	32782136	32782136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctcagcaggctggagtgatCgacaaggcaggtgtagacat	15	8	1	2	rs141132227		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr6:32782136C>A	ENST00000438763.2	-	3	700	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	TAP2_ENST00000452392.2_Missense_Mutation_p.D809Y	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	202	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)	p.D202N(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						CTGGAGTGATCGACAAGGCAG	0.493																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000241106						163	143	150					6																	32782136		1511	2709	4220	HLA-DOB	SO:0001583	missense	0			-	HGNC		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.604G>T	6.37:g.32782136C>A	ENSP00000390020:p.Asp202Tyr	Somatic	0	73	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP							pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.D202Y	ENST00000438763.2	37	c.604	CCDS4754.1	6	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791949	0.31685	.	.	ENSG00000241106;ENSG00000250264	ENST00000438763;ENST00000452392	T;T	0.02944	4.1;4.1	3.96	0.0114	0.14087	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.306543	0.39020	N	0.001494	T	0.01029	0.0034	L	0.56199	1.76	0.09310	N	1	B;B;B	0.17465	0.022;0.015;0.022	B;B;B	0.21151	0.033;0.015;0.033	T	0.44112	-0.9349	10	0.87932	D	0	.	4.0189	0.09657	0.1285:0.5693:0.1275:0.1747	.	202;809;202	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	Y	202;809	ENSP00000390020:D202Y;ENSP00000391806:D809Y	ENSP00000390020:D202Y	D	-	1	0	XXbac-BPG246D15.9;HLA-DOB	32890114	0.336000	0.24757	0.002000	0.10522	0.682000	0.39822	0.580000	0.23803	-0.259000	0.09432	-0.836000	0.03065	GAT	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.493	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DOB	protein_coding	OTTHUMT00000076439.1	C	NM_002120	-		32782136	-1	no_errors	ENST00000438763	ensembl	human	known	74_37	missense	SNP	0.051	A	A	32782136	C	A	32782136	3	1	158	1	0	0	0	0	1	0	0	0	7203	884	31	3	233	3	HLA-DOB	6	32782136	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	6541453	32782136	138332931	12	11330											
CHD7	55636	genome.wustl.edu	37	chr8	61763141	61763141	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgccaaggccatagctgccGagcaaagaggaacagacatg	12	10	0	2			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr8:61763141G>T	ENST00000423902.2	+	26	5973	c.5494G>T	c.(5494-5496)Gag>Tag	p.E1832*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1832					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATAGCTGCCGAGCAAAGAGG	0.493																																																	0								ENSG00000171316						54	65	61					8																	61763141		2129	4243	6372	CHD7	SO:0001587	stop_gained	0			-	HGNC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5494G>T	8.37:g.61763141G>T	ENSP00000392028:p.Glu1832*	Somatic	0	46	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1832*	ENST00000423902.2	37	c.5494	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	50	16.489793	0.99864	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.5359	19.0723	0.93145	0.0:0.0:1.0:0.0	.	.	.	.	X	1832	.	ENSP00000307304:E1832X	E	+	1	0	CHD7	61925695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.579000	0.87056	0.650000	0.86243	GAG	-	NULL		0.493	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	G	XM_098762	-		61763141	1	no_errors	ENST00000423902	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	61763141	G	T	61763141	4	4	158	1	0	0	0	0	0	1	0	0	3332	1059	37	3	5592	3	CHD7	8	61763141	Nonsense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		61763141	84600881	13	11331											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68115436	68115436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgttaaaaagcggtaCattccttggtcttgagtatc	10	6	1	2			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr8:68115436C>T	ENST00000262215.3	-	36	5399	c.5010G>A	c.(5008-5010)atG>atA	p.M1670I	ARFGEF1_ENST00000517955.1_5'Flank|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.M508I|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.M1124I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1670					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAAGCGGTACATTCCTTGGT	0.388																																																	0								ENSG00000066777						172	142	152					8																	68115436		2203	4300	6503	ARFGEF1	SO:0001583	missense	0			-	HGNC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5010G>A	8.37:g.68115436C>T	ENSP00000262215:p.Met1670Ile	Somatic	0	55	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.M1670I	ENST00000262215.3	37	c.5010	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.113656	0.94339	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.70595	2.14	0.80722	D	1	D;D;P;D	0.71674	0.998;0.97;0.949;0.97	D;P;P;P	0.79784	0.993;0.77;0.642;0.77	T	0.71869	-0.4462	10	0.59425	D	0.04	.	17.7834	0.88530	0.0:1.0:0.0:0.0	.	1670;1148;494;1124	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	I	1124;1670;1;508	ENSP00000428429:M1124I;ENSP00000262215:M1670I;ENSP00000429560:M1I;ENSP00000430891:M508I	ENSP00000262215:M1670I	M	-	3	0	ARFGEF1	68277990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.357000	0.79964	0.650000	0.86243	ATG	-	NULL		0.388	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	protein_coding	OTTHUMT00000379441.4	C	NM_006421	-		68115436	-1	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68115436	C	T	68115436	3	4	158	1	0	0	0	0	1	0	0	0	852	478	17	2	555	2	ARFGEF1	8	68115436	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	6352295	68115436	78248586	14	11332											
KIAA1429	25962	genome.wustl.edu	37	chr8	95507140	95507140	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaatggagtgaaccacataGatttcaactgatcatccatg	8	8	2	3			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr8:95507140G>T	ENST00000297591.5	-	20	4664	c.4589C>A	c.(4588-4590)tCt>tAt	p.S1530Y	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1530					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAACCACATAGATTTCAACTG	0.323																																																	0								ENSG00000164944						137	146	143					8																	95507140		2203	4300	6503	KIAA1429	SO:0001583	missense	0			-	HGNC	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4589C>A	8.37:g.95507140G>T	ENSP00000297591:p.Ser1530Tyr	Somatic	0	25	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.S1530Y	ENST00000297591.5	37	c.4589	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501175	0.85176	.	.	ENSG00000164944	ENST00000297591	T	0.48201	0.82	5.16	5.16	0.70880	.	0.115101	0.64402	D	0.000010	T	0.56247	0.1972	L	0.38175	1.15	0.80722	D	1	D	0.64830	0.994	P	0.56865	0.808	T	0.59526	-0.7438	10	0.72032	D	0.01	-12.3869	19.0186	0.92903	0.0:0.0:1.0:0.0	.	1530	Q69YN4	VIR_HUMAN	Y	1530	ENSP00000297591:S1530Y	ENSP00000297591:S1530Y	S	-	2	0	KIAA1429	95576316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.165000	0.94761	2.579000	0.87056	0.650000	0.86243	TCT	-	NULL		0.323	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	protein_coding	OTTHUMT00000378720.2	G	NM_015496	-		95507140	-1	no_errors	ENST00000297591	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95507140	G	T	95507140	3	4	158	1	0	0	0	0	1	0	0	0	8233	942	33	3	869	3	KIAA1429	8	95507140	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	27391704	95507140	50856882	15	11333											
BNC2	54796	genome.wustl.edu	37	chr9	16738393	16738393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaccccacaacatgggaCcttgaaatatgctggccagt	8	12	1	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr9:16738393C>T	ENST00000380672.4	-	2	151	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	BNC2_ENST00000380667.2_Missense_Mutation_p.V32I|BNC2_ENST00000380666.2_Missense_Mutation_p.V32I|BNC2_ENST00000545497.1_Intron	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)		CAACATGGGACCTTGAAATAT	0.443																																																	0								ENSG00000173068						179	147	158					9																	16738393		2203	4300	6503	BNC2	SO:0001583	missense	0			-	HGNC	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.94G>A	9.37:g.16738393C>T	ENSP00000370047:p.Val32Ile	Somatic	0	68	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	45	39.19		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V32I	ENST00000380672.4	37	c.94	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063110	0.36373	.	.	ENSG00000173068	ENST00000380672;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000380666;ENST00000540340	T;T;T	0.03889	3.77;3.77;3.77	4.07	0.559	0.17272	.	1.262830	0.05974	N	0.642836	T	0.02848	0.0085	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	0.45264	-0.9273	10	0.87932	D	0	0.0215	3.1172	0.06379	0.324:0.4654:0.0:0.2107	.	32;32;32	Q06HC4;Q6ZN30-2;Q6ZN30	.;.;BNC2_HUMAN	I	32	ENSP00000370047:V32I;ENSP00000370042:V32I;ENSP00000370041:V32I	ENSP00000370041:V32I	V	-	1	0	BNC2	16728393	0.003000	0.15002	0.000000	0.03702	0.469000	0.32828	0.514000	0.22786	0.085000	0.17107	0.579000	0.79373	GTC	-	NULL		0.443	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	protein_coding	OTTHUMT00000216901.5	C	NM_017637	-		16738393	-1	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	SNP	0.001	T	T	16738393	C	T	16738393	3	4	158	1	0	0	0	0	1	0	0	0	1475	507	18	2	3229	2	BNC2	9	16738393	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09		16738393	124475038	16	11334											
CNTLN	54875	genome.wustl.edu	37	chr9	17235703	17235703	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccttgtaaaacggaaAattgcagtagatgaagaaaa	9	4	0	4			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr9:17235703A>T	ENST00000380647.3	+	4	666	c.582A>T	c.(580-582)aaA>aaT	p.K194N	CNTLN_ENST00000380641.4_Missense_Mutation_p.K194N|CNTLN_ENST00000425824.1_Missense_Mutation_p.K194N|CNTLN_ENST00000262360.5_Missense_Mutation_p.K194N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	194					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)			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)		TAAAACGGAAAATTGCAGTAG	0.308																																																	0								ENSG00000044459						107	105	106					9																	17235703		1806	4061	5867	CNTLN	SO:0001583	missense	0			-	HGNC	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.582A>T	9.37:g.17235703A>T	ENSP00000370021:p.Lys194Asn	Somatic	0	32	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP							superfamily_Prefoldin	p.K194N	ENST00000380647.3	37	c.582	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	9.621	1.133838	0.21123	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.42	3.51	0.40186	.	.	.	.	.	T	0.20455	0.0492	M	0.64997	1.995	0.25834	N	0.984139	D;D;D	0.76494	0.996;0.996;0.999	P;P;D	0.65443	0.866;0.866;0.935	T	0.05162	-1.0902	9	0.41790	T	0.15	.	7.3967	0.26939	0.3706:0.0:0.6294:0.0	.	194;194;194	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	N	194	ENSP00000370021:K194N;ENSP00000392798:K194N;ENSP00000262360:K194N;ENSP00000370015:K194N	ENSP00000262360:K194N	K	+	3	2	CNTLN	17225703	1.000000	0.71417	0.413000	0.26509	0.199000	0.23934	1.272000	0.33109	0.758000	0.33059	-0.182000	0.12963	AAA	-	superfamily_Prefoldin		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	protein_coding	OTTHUMT00000051793.3	A	NM_017738	-		17235703	1	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	SNP	0.993	T	T	17235703	A	T	17235703	3	4	158	1	0	0	0	0	1	0	0	0	3641	11	1	5	596	5	CNTLN	9	17235703	Missense_Mutation	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09	497310	17235703	123977728	17	11335											
TJP2	9414	genome.wustl.edu	37	chr9	71866189	71866189	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaagataatgctcccaaatCagtcctgggcaaagtcaaaa	8	10	2	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr9:71866189C>T	ENST00000377245.4	+	21	3438	c.3230C>T	c.(3229-3231)tCa>tTa	p.S1077L	TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Missense_Mutation_p.S1044L|TJP2_ENST00000539225.1_Missense_Mutation_p.S1108L|TJP2_ENST00000348208.4_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1077					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCTCCCAAATCAGTCCTGGGC	0.502																																																	0								ENSG00000119139						82	78	79					9																	71866189		2203	4300	6503	TJP2	SO:0001583	missense	0			-	HGNC	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3230C>T	9.37:g.71866189C>T	ENSP00000366453:p.Ser1077Leu	Somatic	0	32	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP							pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.S1108L	ENST00000377245.4	37	c.3323	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.301528	0.95601	.	.	ENSG00000119139	ENST00000377245;ENST00000535702;ENST00000539225	T;T;T	0.22945	2.24;1.93;2.26	6.17	6.17	0.99709	.	0.066704	0.64402	D	0.000008	T	0.50069	0.1594	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.963;0.999	D;P;D	0.83275	0.996;0.692;0.93	T	0.16100	-1.0414	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1108;1044;1077	F5H301;F5H886;Q9UDY2	.;.;ZO2_HUMAN	L	1077;1044;1108	ENSP00000366453:S1077L;ENSP00000442090:S1044L;ENSP00000438262:S1108L	ENSP00000366453:S1077L	S	+	2	0	TJP2	71056009	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.817000	0.75252	2.941000	0.99782	0.655000	0.94253	TCA	-	NULL		0.502	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	protein_coding	OTTHUMT00000052572.2	C	NM_201629	-		71866189	1	no_errors	ENST00000539225	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71866189	C	T	71866189	3	4	158	1	0	0	0	0	1	0	0	0	15937	838	29	2	3571	2	TJP2	9	71866189	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	54630486	71866189	69347242	18	11336											
SYK	6850	genome.wustl.edu	37	chr9	93627356	93627356	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattttggaggccgtccaCaacttccaggttcccatcct	7	13	0	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr9:93627356C>T	ENST00000375754.4	+	6	971	c.823C>T	c.(823-825)Caa>Taa	p.Q275*	SYK_ENST00000375746.1_Nonsense_Mutation_p.Q275*|SYK_ENST00000375751.4_Nonsense_Mutation_p.Q275*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Q275*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	275	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGGCCGTCCACAACTTCCAGG	0.448			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								ENSG00000165025						132	125	127					9																	93627356		2203	4300	6503	SYK	SO:0001587	stop_gained	0			-	HGNC	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.823C>T	9.37:g.93627356C>T	ENSP00000364907:p.Gln275*	Somatic	0	42	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Nonsense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.Q275*	ENST00000375754.4	37	c.823	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.159145	0.94686	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	4.46	3.54	0.40534	.	1.420570	0.04366	N	0.358238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	10.3047	0.43674	0.0:0.79:0.21:0.0	.	.	.	.	X	275	.	ENSP00000364898:Q275X	Q	+	1	0	SYK	92667177	0.005000	0.15991	0.003000	0.11579	0.252000	0.25951	1.965000	0.40471	1.438000	0.47492	0.561000	0.74099	CAA	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.448	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	protein_coding	OTTHUMT00000053018.1	C		-		93627356	1	no_errors	ENST00000375746	ensembl	human	known	74_37	nonsense	SNP	0.003	T	T	93627356	C	T	93627356	4	4	158	1	0	0	0	0	0	1	0	0	15445	479	17	2	841	2	SYK	9	93627356	Nonsense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	21761167	93627356	47586075	19	11337											
FRMPD2	143162	genome.wustl.edu	37	chr10	49452869	49452869	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgctgaccagtagagggtCattcctaaagaatagacatg	10	9	1	4			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr10:49452869C>T	ENST00000374201.3	-	4	635	c.333G>A	c.(331-333)atG>atA	p.M111I	FRMPD2_ENST00000407470.4_Intron|FRMPD2_ENST00000305531.3_Intron	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	111	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTAGAGGGTCATTCCTAAAG	0.423																																																	0								ENSG00000170324						127	110	116					10																	49452869		2203	4300	6503	FRMPD2	SO:0001583	missense	0			-	HGNC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.333G>A	10.37:g.49452869C>T	ENSP00000363317:p.Met111Ile	Somatic	0	25	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP							pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.M111I	ENST00000374201.3	37	c.333	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134705	0.77662	.	.	ENSG00000170324	ENST00000374201	T	0.38077	1.16	5.1	4.2	0.49525	KIND (2);	.	.	.	.	T	0.56688	0.2002	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.60182	-0.7313	9	0.87932	D	0	.	9.4916	0.38962	0.0:0.9018:0.0:0.0982	.	111	Q68DX3	FRPD2_HUMAN	I	111	ENSP00000363317:M111I	ENSP00000363317:M111I	M	-	3	0	FRMPD2	49122875	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.196000	0.51020	1.157000	0.42530	0.467000	0.42956	ATG	-	superfamily_Kinase-like_dom,smart_KIND		0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	C	NM_152428	-		49452869	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49452869	C	T	49452869	3	4	158	1	0	0	0	0	1	0	0	0	6060	826	29	2	3700	2	FRMPD2	10	49452869	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09		49452869	86081878	20	11338											
LHPP	64077	genome.wustl.edu	37	chr10	126185567	126185567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctggcctgatgctggacGttggtccctacatgaaggcg	13	12	1	2			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr10:126185567G>A	ENST00000368842.5	+	4	533	c.505G>A	c.(505-507)Gtt>Att	p.V169I	LHPP_ENST00000392757.4_Missense_Mutation_p.V169I|LHPP_ENST00000368839.1_Missense_Mutation_p.V169I	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	169					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GATGCTGGACGTTGGTCCCTA	0.567																																					GBM(165;1980 2715 15999 18454)												0								ENSG00000107902						225	196	205					10																	126185567		2203	4300	6503	LHPP	SO:0001583	missense	0			-	HGNC	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.505G>A	10.37:g.126185567G>A	ENSP00000357835:p.Val169Ile	Somatic	0	55	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	7	78.79	B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.V169I	ENST00000368842.5	37	c.505	CCDS7640.1	10	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754127	0.49362	.	.	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.26660	1.72;1.72;1.72	4.57	4.57	0.56435	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.065106	0.64402	D	0.000009	T	0.24736	0.0600	L	0.31120	0.905	0.80722	D	1	P;B	0.45957	0.869;0.079	P;B	0.45138	0.471;0.02	T	0.01748	-1.1282	10	0.25106	T	0.35	-24.9576	17.9367	0.89014	0.0:0.0:1.0:0.0	.	169;169	Q9H008-2;Q9H008	.;LHPP_HUMAN	I	169	ENSP00000376512:V169I;ENSP00000357835:V169I;ENSP00000357832:V169I	ENSP00000357832:V169I	V	+	1	0	LHPP	126175557	1.000000	0.71417	0.754000	0.31244	0.579000	0.36224	5.417000	0.66423	2.551000	0.86045	0.561000	0.74099	GTT	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA		0.567	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHPP	protein_coding	OTTHUMT00000050870.1	G	NM_022126	-		126185567	1	no_errors	ENST00000368842	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126185567	G	A	126185567	3	1	158	1	0	0	0	0	1	0	0	0	8771	1145	40	1	519	1	LHPP	10	126185567	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	76732698	126185567	9349180	21	11339											
OR51V1	283111	genome.wustl.edu	37	chr11	5221043	5221043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acactgtagatgatgggattCattaaaggtgggaaaaggat	13	3	1	2	rs534810680		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr11:5221043C>T	ENST00000321255.1	-	1	887	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	296					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGGGATTCATTAAAGGTG	0.433																																																	0								ENSG00000176742						91	86	87					11																	5221043		2201	4298	6499	OR51V1	SO:0001583	missense	0			-	HGNC	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.888G>A	11.37:g.5221043C>T	ENSP00000321729:p.Met296Ile	Somatic	0	91	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	46	46.51		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M296I	ENST00000321255.1	37	c.888	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	C	11.04	1.523217	0.27299	.	.	ENSG00000176742	ENST00000321255	T	0.34072	1.38	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.33933	0.0880	L	0.48642	1.525	0.26584	N	0.973317	B	0.26672	0.156	B	0.29267	0.1	T	0.30475	-0.9977	10	0.56958	D	0.05	.	12.6682	0.56853	0.1651:0.8349:0.0:0.0	.	296	Q9H2C8	O51V1_HUMAN	I	296	ENSP00000321729:M296I	ENSP00000321729:M296I	M	-	3	0	OR51V1	5177619	0.189000	0.23263	1.000000	0.80357	0.376000	0.30014	-0.362000	0.07602	2.742000	0.94016	0.655000	0.94253	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.433	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	protein_coding	OTTHUMT00000142965.1	C	NM_001004760	-		5221043	-1	no_errors	ENST00000321255	ensembl	human	known	74_37	missense	SNP	0.997	T	T	5221043	C	T	5221043	3	4	158	1	0	0	0	0	1	0	0	0	11109	826	29	2	80	2	OR51V1	11	5221043	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09		5221043	129785473	22	11340											
OR52L1	338751	genome.wustl.edu	37	chr11	6007208	6007208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactctgagcactcgctggCggatctgctgagtcttcact	10	13	4	2	rs377354838		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr11:6007208C>T	ENST00000332249.4	-	1	1007	c.953G>A	c.(952-954)cGc>cAc	p.R318H		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCGCTGGCGGATCTGCTG	0.502																																					Melanoma(121;653 1666 10547 22796 51255)												0								ENSG00000183313	C	HIS/ARG	1,4045		0,1,2022	46	46	46		953	2.7	1	11		46	0,8392		0,0,4196	no	missense	OR52L1	NM_001005173.2	29	0,1,6218	TT,TC,CC		0.0,0.0247,0.0080	benign	318/330	6007208	1,12437	2023	4196	6219	OR52L1	SO:0001583	missense	0			-	HGNC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.953G>A	11.37:g.6007208C>T	ENSP00000330338:p.Arg318His	Somatic	0	48	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	32.79	B2RPA6|Q6IFK9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R318H	ENST00000332249.4	37	c.953	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	C	7.057	0.565582	0.13560	2.47E-4	0.0	ENSG00000183313	ENST00000332249	T	0.58358	0.34	3.57	2.66	0.31614	.	0.000000	0.43747	D	0.000530	T	0.39200	0.1069	.	.	.	0.25900	N	0.983364	B	0.14438	0.01	B	0.08055	0.003	T	0.37776	-0.9691	9	0.72032	D	0.01	.	7.926	0.29874	0.0:0.7896:0.0:0.2104	.	318	Q8NGH7	O52L1_HUMAN	H	318	ENSP00000330338:R318H	ENSP00000330338:R318H	R	-	2	0	OR52L1	5963784	0.002000	0.14202	0.999000	0.59377	0.005000	0.04900	0.220000	0.17660	0.844000	0.35094	-0.671000	0.03813	CGC	-	prints_GPCR_Rhodpsn		0.502	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	protein_coding	OTTHUMT00000383754.1	C	NM_001005173	-		6007208	-1	no_errors	ENST00000332249	ensembl	human	known	74_37	missense	SNP	0.990	T	T	6007208	C	T	6007208	3	4	158	1	0	0	0	0	1	0	0	0	11127	768	27	1	40	1	OR52L1	11	6007208	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	786165	6007208	128999308	23	11341											
RBMXL2	27288	genome.wustl.edu	37	chr11	7110543	7110543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccgcagacgccaaggcCgccgccagagacatgaacgg	13	16	0	3			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr11:7110543C>T	ENST00000306904.5	+	1	379	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	64	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGCCAAGGCCGCCGCCAGAG	0.642																																																	0								ENSG00000170748						25	24	24					11																	7110543		2198	4295	6493	RBMXL2	SO:0001819	synonymous_variant	0			-	HGNC	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.192C>T	11.37:g.7110543C>T		Somatic	0	25	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	Q6PEZ2|Q9NQU0	Silent	SNP							pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.A64	ENST00000306904.5	37	c.192	CCDS7777.1	11																																																																																			-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.642	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	protein_coding	OTTHUMT00000384552.1	C	NM_014469	-		7110543	1	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7110543	C	T	7110543	2	4	158	1	0	0	0	0	0	0	0	1	13162	639	23	1		1	RBMXL2	11	7110543	Silent	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	1103335	7110543	127895973	24	11342											
EEF1G	1937	genome.wustl.edu	37	chr11	62327654	62327654	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcagcttgtccagtcGctggaacattcctgaagcgg	10	13	1	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr11:62327654G>A	ENST00000329251.4	-	9	1172	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Nonsense_Mutation_p.R398*	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	348	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGTCCAGTCGCTGGAACATT	0.512																																																	0								ENSG00000254772						44	42	43					11																	62327654		1988	4165	6153	EEF1G	SO:0001587	stop_gained	0			-	HGNC	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1042C>T	11.37:g.62327654G>A	ENSP00000331901:p.Arg348*	Somatic	0	34	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Nonsense_Mutation	SNP							pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.R398*	ENST00000329251.4	37	c.1192	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.557225	0.96514	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	4.67	4.67	0.58626	.	0.056763	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1667	0.72833	0.0:0.0:1.0:0.0	.	.	.	.	X	348;398;117	.	ENSP00000331901:R348X	R	-	1	2	EEF1G	62084230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.427000	0.80284	2.456000	0.83038	0.537000	0.68136	CGA	-	pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con		0.512	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	protein_coding	OTTHUMT00000395047.1	G	NM_001404	-		62327654	-1	no_errors	ENST00000378019	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	62327654	G	A	62327654	4	1	158	1	0	0	0	0	0	1	0	0	4930	1095	38	1	279	1	EEF1G	11	62327654	Nonsense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	55217111	62327654	72678862	25	11343											
KRTAP5-10	387273	genome.wustl.edu	37	chr11	71276808	71276808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctgtgtgccagccTgttcctgctccagctgtggc	13	13	0	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr11:71276808T>C	ENST00000398531.1	+	1	200	c.175T>C	c.(175-177)Tgt>Cgt	p.C59R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C59R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	59	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGCCAGCCTGTTCCTGCTC	0.677																																																	0								ENSG00000204572						62	81	74					11																	71276808		2162	4254	6416	KRTAP5-10	SO:0001583	missense	0			-	HGNC	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.175T>C	11.37:g.71276808T>C	ENSP00000381542:p.Cys59Arg	Somatic	0	97	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	53	41.76	B9EHA4	Missense_Mutation	SNP							NULL	p.C59R	ENST00000398531.1	37	c.175	CCDS41684.1	11	.	.	.	.	.	.	.	.	.	.	t	10.08	1.252712	0.22965	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.01265	5.08;5.32	1.84	1.84	0.25277	.	.	.	.	.	T	0.03263	0.0095	M	0.90082	3.085	0.31338	N	0.684027	P	0.42993	0.797	B	0.37422	0.249	T	0.06409	-1.0828	9	0.72032	D	0.01	.	7.6693	0.28449	0.0:0.0:0.0:1.0	.	59	Q6L8G5	KR510_HUMAN	R	59	ENSP00000381542:C59R;ENSP00000365719:C59R	ENSP00000365719:C59R	C	+	1	0	KRTAP5-10	70954456	0.001000	0.12720	0.869000	0.34112	0.771000	0.43674	0.006000	0.13152	1.126000	0.42016	0.333000	0.21579	TGT	-	NULL		0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP5-10	protein_coding	OTTHUMT00000127968.2	T		-		71276808	1	no_errors	ENST00000398531	ensembl	human	known	74_37	missense	SNP	0.396	C	C	71276808	T	C	71276808	3	2	158	1	0	0	0	0	1	0	0	0	8561	1580	55	5	177	5	KRTAP5-10	11	71276808	Missense_Mutation	SNP	T	TCGA-IS-A3K6-01A-11D-A21Q-09	8949154	71276808	63729708	26	11344											
CCNT1	904	genome.wustl.edu	37	chr12	49088156	49088156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatattgaggattgtctGctctgaagtcttttcatctg	8	7	6	2			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr12:49088156G>A	ENST00000261900.3	-	9	1063	c.841C>T	c.(841-843)Cag>Tag	p.Q281*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	281					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGGATTGTCTGCTCTGAAGTC	0.448																																																	0								ENSG00000129315						160	144	150					12																	49088156		2203	4300	6503	CCNT1	SO:0001587	stop_gained	0			-	HGNC	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.841C>T	12.37:g.49088156G>A	ENSP00000261900:p.Gln281*	Somatic	0	71	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	24.64	A9XU13|E7EX76|O60581	Nonsense_Mutation	SNP							pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q281*	ENST00000261900.3	37	c.841	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914275	0.92178	.	.	ENSG00000129315	ENST00000261900	.	.	.	5.33	5.33	0.75918	.	0.125203	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-9.7714	13.5253	0.61591	0.0:0.1569:0.8431:0.0	.	.	.	.	X	281	.	ENSP00000261900:Q281X	Q	-	1	0	CCNT1	47374423	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.894000	0.63206	2.504000	0.84457	0.491000	0.48974	CAG	-	NULL		0.448	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	protein_coding	OTTHUMT00000408853.1	G	NM_001240	-		49088156	-1	no_errors	ENST00000261900	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	49088156	G	A	49088156	4	1	158	1	0	0	0	0	0	1	0	0	2936	1328	46	2	1343	2	CCNT1	12	49088156	Nonsense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		49088156	84763739	27	11345											
SDR9C7	121214	genome.wustl.edu	37	chr12	57327965	57327965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagcctgtgatgaagacGtacttctctgagaggttgcc	11	10	2	4			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr12:57327965G>A	ENST00000293502.1	-	1	224	c.81C>T	c.(79-81)taC>taT	p.Y27Y		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	27					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGATGAAGACGTACTTCTCTG	0.547																																																	0								ENSG00000170426						77	73	75					12																	57327965		2203	4300	6503	SDR9C7	SO:0001819	synonymous_variant	0			-	HGNC	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.81C>T	12.37:g.57327965G>A		Somatic	0	33	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	B3KVB4	Silent	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Y27	ENST00000293502.1	37	c.81	CCDS8926.1	12																																																																																			-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH		0.547	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR9C7	protein_coding	OTTHUMT00000411211.1	G	NM_148897	-		57327965	-1	no_errors	ENST00000293502	ensembl	human	known	74_37	silent	SNP	0.983	A	A	57327965	G	A	57327965	2	1	158	1	0	0	0	0	0	0	0	1	13982	1140	40	1		1	SDR9C7	12	57327965	Silent	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	8239809	57327965	76523930	28	11346											
C12orf56	115749	genome.wustl.edu	37	chr12	64712546	64712547	+	In_Frame_Ins	INS	-	-	GTT													aaaggaatttcacttatggaINSgttgtgatctggaagtccct					rs10671017|rs113411861|rs374938611	byFrequency	TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr12:64712546_64712547insGTT	ENST00000543942.2	-	4	1328_1329	c.702_703insAAC	c.(700-705)aactcc>aacAACtcc	p.234_235insN	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Intron	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	234										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCACTTATGGAGTTGTGATCTG	0.45														2194	0.438099	0.5802	0.3905	5008	,	,		18583	0.3452		0.4185	False		,,,				2504	0.3957																0								ENSG00000185306		,	1186,942		392,402,270					,	3.8	0		dbSNP_132	112	1695,2515		450,795,860	no	coding,intron	C12orf56	NM_001170633.1,NM_001099676.2	,	842,1197,1130	A1A1,A1R,RR		40.2613,44.2669,45.456	,	,		2881,3457				C12orf56	SO:0001652	inframe_insertion	0				HGNC		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.700_702dupAAC	12.37:g.64712547_64712549dupGTT	ENSP00000446101:p.Asn234_Asn234dup	Somatic	0	68	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38		In_Frame_Ins	INS							NULL	p.234in_frame_insN	ENST00000543942.2	37	c.703_702		12																																																																																			-	NULL		0.45	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	protein_coding	OTTHUMT00000401058.2	-	NM_001099676			64712547	-1	no_errors	ENST00000543942	ensembl	human	putative	74_37	in_frame_ins	INS	0.101:0.105	GTT	GTT	64712547	-	GTT	64712546	7	5	158	1	0	1	1	0	0	0	0	0	1702	304	11	0	1205	0	C12orf56	12	64712546	In_Frame_Ins	INS	-	TCGA-IS-A3K6-01A-11D-A21Q-09	7384581	64712546	69139349	29	11347											
VSIG10	54621	genome.wustl.edu	37	chr12	118517303	118517303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctcctggctcttctatcCacaggaagtcagggtcaggg	11	13	4	0			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr12:118517303C>A	ENST00000359236.5	-	4	1049	c.773G>T	c.(772-774)tGg>tTg	p.W258L	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	258	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CTCTTCTATCCACAGGAAGTC	0.557																																																	0								ENSG00000176834						110	113	112					12																	118517303		2022	4204	6226	VSIG10	SO:0001583	missense	0			-	HGNC		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.773G>T	12.37:g.118517303C>A	ENSP00000352172:p.Trp258Leu	Somatic	0	49	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q9NWQ7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.W258L	ENST00000359236.5	37	c.773	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035909	0.93630	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.43688	0.94;0.94	6.14	6.14	0.99180	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000590	T	0.69895	0.3162	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70714	-0.4796	10	0.87932	D	0	-26.2517	20.8597	0.99761	0.0:1.0:0.0:0.0	.	258	Q8N0Z9	VSI10_HUMAN	L	258;157	ENSP00000352172:W258L;ENSP00000442861:W157L	ENSP00000352172:W258L	W	-	2	0	VSIG10	117001686	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.275000	0.65575	2.937000	0.99478	0.650000	0.86243	TGG	-	pfscan_Ig-like_dom		0.557	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	protein_coding	OTTHUMT00000401273.2	C	NM_019086	-		118517303	-1	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118517303	C	A	118517303	3	1	158	1	0	0	0	0	1	0	0	0	17230	595	21	3	873	3	VSIG10	12	118517303	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	53804757	118517303	15334592	30	11348											
CCDC122	160857	genome.wustl.edu	37	chr13	44443482	44443482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attaccttctttaggaaatcCttgactcttcctttctttgt	4	10	3	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr13:44443482C>G	ENST00000444614.3	-	3	289	c.31G>C	c.(31-33)Gga>Cga	p.G11R	CCDC122_ENST00000281508.3_Missense_Mutation_p.G11R|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	11										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTAGGAAATCCTTGACTCTTC	0.308																																																	0								ENSG00000151773						171	144	153					13																	44443482		2203	4297	6500	CCDC122	SO:0001583	missense	0			-	HGNC	AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.31G>C	13.37:g.44443482C>G	ENSP00000407763:p.Gly11Arg	Somatic	0	48	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP							NULL	p.G11R	ENST00000444614.3	37	c.31	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	c	4.900	0.167294	0.09339	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.39997	1.05;1.05	5.21	3.37	0.38596	.	1.655060	0.03147	N	0.167370	T	0.30696	0.0773	N	0.22421	0.69	0.09310	N	1	B;B	0.24258	0.1;0.003	B;B	0.18263	0.021;0.005	T	0.16364	-1.0405	10	0.25106	T	0.35	-7.8285	7.1328	0.25510	0.0:0.7809:0.0:0.2191	.	11;11	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	R	11	ENSP00000407763:G11R;ENSP00000281508:G11R	ENSP00000281508:G11R	G	-	1	0	CCDC122	43341482	0.002000	0.14202	0.045000	0.18777	0.380000	0.30137	0.657000	0.24963	1.358000	0.45922	0.454000	0.30748	GGA	-	NULL		0.308	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	protein_coding	OTTHUMT00000276172.4	C	NM_144974	-		44443482	-1	no_errors	ENST00000281508	ensembl	human	known	74_37	missense	SNP	0.006	G	G	44443482	C	G	44443482	3	3	158	1	0	0	0	0	1	0	0	0	2760	690	24	4	810	4	CCDC122	13	44443482	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09		44443482	70726396	31	11349											
CEP152	22995	genome.wustl.edu	37	chr15	49048344	49048344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagatttccagttggatcCgcttggcttcctgcatagtc	10	10	0	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr15:49048344C>T	ENST00000380950.2	-	20	3288	c.3101G>A	c.(3100-3102)cGg>cAg	p.R1034Q	CEP152_ENST00000325747.5_Missense_Mutation_p.R941Q|CEP152_ENST00000399334.3_Missense_Mutation_p.R1034Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1034					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CAGTTGGATCCGCTTGGCTTC	0.413																																																	0								ENSG00000103995						148	136	140					15																	49048344		1920	4126	6046	CEP152	SO:0001583	missense	0			-	HGNC	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3101G>A	15.37:g.49048344C>T	ENSP00000370337:p.Arg1034Gln	Somatic	0	63	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	47	35.62	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP							NULL	p.R1034Q	ENST00000380950.2	37	c.3101	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317423	0.40996	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.57595	0.42;0.46;0.39	5.49	1.41	0.22369	.	0.226653	0.34555	N	0.003865	T	0.35998	0.0951	L	0.33245	0.995	0.24042	N	0.996071	B;P;P	0.51653	0.41;0.761;0.947	B;B;B	0.38225	0.031;0.077;0.268	T	0.26087	-1.0113	10	0.42905	T	0.14	-8.4016	11.3473	0.49567	0.0:0.7421:0.0:0.2579	.	941;1034;1034	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Q	1034;941;1034	ENSP00000370337:R1034Q;ENSP00000321000:R941Q;ENSP00000382271:R1034Q	ENSP00000321000:R941Q	R	-	2	0	CEP152	46835636	0.007000	0.16637	0.814000	0.32528	0.866000	0.49608	0.979000	0.29500	0.359000	0.24239	-0.229000	0.12294	CGG	-	NULL		0.413	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	protein_coding	OTTHUMT00000417365.1	C	NM_014985	-		49048344	-1	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	SNP	0.500	T	T	49048344	C	T	49048344	3	4	158	1	0	0	0	0	1	0	0	0	3250	652	23	1	1891	1	CEP152	15	49048344	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09		49048344	53483048	32	11350											
DTWD1	56986	genome.wustl.edu	37	chr15	49926974	49926974	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacaaacaaaatattcaCtgatgagcgacttcaaggta	6	9	2	2	rs547674376		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr15:49926974C>G	ENST00000251250.6	+	5	857	c.650C>G	c.(649-651)aCt>aGt	p.T217S	DTWD1_ENST00000558653.1_Missense_Mutation_p.T217S|DTWD1_ENST00000403028.3_Missense_Mutation_p.T217S|DTWD1_ENST00000415425.1_Missense_Mutation_p.T130S	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	217										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAATATTCACTGATGAGCGA	0.328																																																	0								ENSG00000104047						58	69	65					15																	49926974		2104	4242	6346	DTWD1	SO:0001583	missense	0			-	HGNC	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.650C>G	15.37:g.49926974C>G	ENSP00000251250:p.Thr217Ser	Somatic	0	22	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP							pfam_DTW	p.T217S	ENST00000251250.6	37	c.650	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370829	0.24771	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.22336	1.96;1.96	4.66	3.72	0.42706	DTW (1);	0.215828	0.47852	N	0.000216	T	0.11879	0.0289	N	0.11201	0.11	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.16722	0.009;0.016	T	0.08249	-1.0731	9	.	.	.	-5.5929	14.8165	0.70039	0.0:0.8548:0.1452:0.0	.	130;217	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	S	217;217;130	ENSP00000385399:T217S;ENSP00000251250:T217S	.	T	+	2	0	DTWD1	47714266	1.000000	0.71417	0.939000	0.37840	0.968000	0.65278	3.132000	0.50523	1.042000	0.40150	0.655000	0.94253	ACT	-	pfam_DTW		0.328	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	protein_coding	OTTHUMT00000254431.2	C	NM_020234	-		49926974	1	no_errors	ENST00000251250	ensembl	human	known	74_37	missense	SNP	0.947	G	G	49926974	C	G	49926974	3	3	158	1	0	0	0	0	1	0	0	0	4793	565	20	4	660	4	DTWD1	15	49926974	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09	878630	49926974	52604418	33	11351											
PML	5371	genome.wustl.edu	37	chr15	74315216	74315216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctgctcgtgcgcgcTccttgacagcagccacagtg	13	14	0	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr15:74315216T>A	ENST00000268058.3	+	3	746	c.650T>A	c.(649-651)cTc>cAc	p.L217H	PML_ENST00000359928.4_Missense_Mutation_p.L217H|PML_ENST00000395135.3_Missense_Mutation_p.L217H|PML_ENST00000436891.3_Missense_Mutation_p.L217H|PML_ENST00000569477.1_Missense_Mutation_p.L217H|PML_ENST00000435786.2_Missense_Mutation_p.L217H|PML_ENST00000567543.1_Missense_Mutation_p.L217H|PML_ENST00000569965.1_Missense_Mutation_p.L217H|PML_ENST00000268059.6_Missense_Mutation_p.L217H|PML_ENST00000395132.2_Missense_Mutation_p.L217H|PML_ENST00000354026.6_Missense_Mutation_p.L217H|PML_ENST00000563500.1_Missense_Mutation_p.L217H|PML_ENST00000564428.1_Missense_Mutation_p.L217H|PML_ENST00000565898.1_Missense_Mutation_p.L217H	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	217					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCGTGCGCGCTCCTTGACAGC	0.597			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0								ENSG00000140464						40	37	38					15																	74315216		2198	4297	6495	PML	SO:0001583	missense	0			-	HGNC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.650T>A	15.37:g.74315216T>A	ENSP00000268058:p.Leu217His	Somatic	0	24	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP							pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L217H	ENST00000268058.3	37	c.650	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046639	0.55110	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T	0.59638	0.25;0.25;0.51;0.25	4.82	4.82	0.62117	Zinc finger, B-box (1);	0.000000	0.46442	D	0.000285	T	0.65903	0.2736	L	0.36672	1.1	0.35438	D	0.79467	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;1.0;0.999;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;P	0.85130	0.91;0.969;0.982;0.946;0.959;0.972;0.997;0.982;0.995;0.971;0.997;0.864	T	0.75513	-0.3291	10	0.87932	D	0	-31.7679	11.7659	0.51930	0.0:0.0:0.0:1.0	.	167;217;217;217;217;217;217;217;217;217;217;220	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	H	217	ENSP00000353004:L217H;ENSP00000394642:L217H;ENSP00000268058:L217H;ENSP00000378564:L217H	ENSP00000268058:L217H	L	+	2	0	PML	72102269	0.422000	0.25473	0.994000	0.49952	0.412000	0.31113	4.307000	0.59123	1.805000	0.52779	0.260000	0.18958	CTC	-	pfscan_Znf_B-box		0.597	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	protein_coding	OTTHUMT00000269021.3	T	NM_002675	-		74315216	1	no_errors	ENST00000268058	ensembl	human	known	74_37	missense	SNP	0.990	A	A	74315216	T	A	74315216	3	1	158	1	0	0	0	0	1	0	0	0	12137	1551	54	5	660	5	PML	15	74315216	Missense_Mutation	SNP	T	TCGA-IS-A3K6-01A-11D-A21Q-09	24388242	74315216	28216176	34	11352											
DNAH3	55567	genome.wustl.edu	37	chr16	20944659	20944659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgatgcagaaacattgcGctctccccaggtttcagcca	8	14	2	2	rs567061014		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr16:20944659G>A	ENST00000261383.3	-	62	12167	c.12168C>T	c.(12166-12168)agC>agT	p.S4056S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4056					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)			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)		GAAACATTGCGCTCTCCCCAG	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		18099	0		0	False		,,,				2504	0																0								ENSG00000158486						163	159	161					16																	20944659		2201	4300	6501	DNAH3	SO:0001819	synonymous_variant	0			-	HGNC	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.12168C>T	16.37:g.20944659G>A		Somatic	0	68	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	44	42.11	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.S4056	ENST00000261383.3	37	c.12168	CCDS10594.1	16																																																																																			-	pfam_Dynein_heavy_dom		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	G	NM_017539	-		20944659	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	SNP	0.987	A	A	20944659	G	A	20944659	2	1	158	1	0	0	0	0	0	0	0	1	4605	1078	38	1		1	DNAH3	16	20944659	Silent	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		20944659	69410094	35	11353											
TP53	7157	genome.wustl.edu	37	chr17	7577130	7577130	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaacacgcacctcaaAgctgttccgtcccagtagat	8	14	1	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr17:7577130A>C	ENST00000269305.4	-	8	997	c.808T>G	c.(808-810)Ttt>Gtt	p.F270V	TP53_ENST00000420246.2_Missense_Mutation_p.F270V|TP53_ENST00000445888.2_Missense_Mutation_p.F270V|TP53_ENST00000359597.4_Missense_Mutation_p.F270V|TP53_ENST00000455263.2_Missense_Mutation_p.F270V|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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270L(15)|p.0?(8)|p.F270V(7)|p.F270I(5)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(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)	CGCACCTCAAAGCTGTTCCGT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(27)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Complex - deletion inframe(2)|Insertion - In frame(1)	stomach(8)|large_intestine(7)|breast(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|testis(1)|eye(1)|ovary(1)|liver(1)						ENSG00000141510						58	51	53					17																	7577130		2203	4300	6503	TP53	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;	-	HGNC	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.808T>G	17.37:g.7577130A>C	ENSP00000269305:p.Phe270Val	Somatic	0	29	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	7	65.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F270V	ENST00000269305.4	37	c.808	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279586	0.80692	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	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	0.99420	0.9795	L	0.28556	0.865	0.58432	D	0.999999	D;B;D;D	0.89917	0.999;0.043;1.0;0.998	D;B;D;D	0.85130	0.997;0.196;0.997;0.996	D	0.98038	1.0380	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	270;270;270;270;270;259;138	ENSP00000352610:F270V;ENSP00000269305:F270V;ENSP00000398846:F270V;ENSP00000391127:F270V;ENSP00000391478:F270V;ENSP00000425104:F138V	ENSP00000269305:F270V	F	-	1	0	TP53	7517855	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	TTT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7577130	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7577130	A	C	7577130	3	2	158	1	0	0	0	0	1	0	0	0	16388	72	3	5	478	5	TP53	17	7577130	Missense_Mutation	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09		7577130	73618080	36	11354											
WNK4	65266	genome.wustl.edu	37	chr17	40936573	40936573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagtgccagaatgccgcGcaaatctaccgcaaggtcac	10	14	2	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr17:40936573G>A	ENST00000246914.5	+	4	1167	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		AGAATGCCGCGCAAATCTACC	0.612																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								ENSG00000126562						73	60	65					17																	40936573		2203	4300	6503	WNK4	SO:0001819	synonymous_variant	0			-	HGNC	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.1146G>A	17.37:g.40936573G>A		Somatic	0	44	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A382	ENST00000246914.5	37	c.1146	CCDS11439.1	17																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	protein_coding	OTTHUMT00000452389.1	G		-		40936573	1	no_errors	ENST00000246914	ensembl	human	known	74_37	silent	SNP	0.708	A	A	40936573	G	A	40936573	2	1	158	1	0	0	0	0	0	0	0	1	17387	1074	38	1		1	WNK4	17	40936573	Silent	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	33359443	40936573	40258637	37	11355											
ZNF880	400713	genome.wustl.edu	37	chr19	52888544	52888544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatcatcacagaatccatActggagagaaaccgtacaga	7	10	2	3			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr19:52888544A>G	ENST00000422689.2	+	4	1726	c.1711A>G	c.(1711-1713)Act>Gct	p.T571A		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	571					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAGAATCCATACTGGAGAGAA	0.388																																																	0								ENSG00000221923						70	64	66					19																	52888544		692	1591	2283	ZNF880	SO:0001583	missense	0			-	HGNC	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1711A>G	19.37:g.52888544A>G	ENSP00000406318:p.Thr571Ala	Somatic	0	30	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	B4DNA6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T571A	ENST00000422689.2	37	c.1711	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999814	0.19121	.	.	ENSG00000221923	ENST00000422689	T	0.06528	3.29	1.79	0.314	0.15847	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07593	0.0191	M	0.70903	2.155	0.19775	N	0.999959	P	0.47191	0.891	B	0.38755	0.281	T	0.22906	-1.0203	8	.	.	.	.	5.9488	0.19234	0.7182:0.0:0.0:0.2818	.	571	Q6PDB4	ZN880_HUMAN	A	571	ENSP00000406318:T571A	.	T	+	1	0	ZNF880	57580356	0.041000	0.20044	0.012000	0.15200	0.088000	0.18126	0.778000	0.26732	-0.300000	0.08895	0.363000	0.22086	ACT	-	pfscan_Znf_C2H2		0.388	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	protein_coding	OTTHUMT00000397374.1	A	NM_001145434	-		52888544	1	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	SNP	0.992	G	G	52888544	A	G	52888544	3	3	158	1	0	0	0	0	1	0	0	0	18204	391	14	5	1725	5	ZNF880	19	52888544	Missense_Mutation	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09		52888544	6240439	38	11356											
C20orf29	55317	genome.wustl.edu	37	chr20	3802829	3802829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggacacgggcctttgccGagtgctgtactcctgcgtct	13	12	1	1			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr20:3802829G>A	ENST00000246041.2	+	2	284	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	AP5S1_ENST00000379573.2_Missense_Mutation_p.R22Q|AP5S1_ENST00000379567.2_Missense_Mutation_p.R22Q			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	22					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											GGCCTTTGCCGAGTGCTGTAC	0.592																																																	0								ENSG00000125843						77	65	69					20																	3802829		2203	4300	6503	AP5S1	SO:0001583	missense	0			-	HGNC	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"chromosome 20 open reading frame 29"	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.65G>A	20.37:g.3802829G>A	ENSP00000246041:p.Arg22Gln	Somatic	0	65	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	30	44.44	B3KSD0|D3DVY7	Missense_Mutation	SNP							NULL	p.R22Q	ENST00000246041.2	37	c.65	CCDS13070.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007386	0.75046	.	.	ENSG00000125843	ENST00000379573;ENST00000379567;ENST00000455742;ENST00000246041	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.68952	2.095	0.50632	D	0.999886	D	0.89917	1.0	D	0.81914	0.995	T	0.78440	-0.2203	9	0.87932	D	0	-8.125	14.0865	0.64959	0.0:0.0:1.0:0.0	.	22	Q9NUS5	CT029_HUMAN	Q	22	.	ENSP00000246041:R22Q	R	+	2	0	C20orf29	3750829	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	5.568000	0.67385	2.699000	0.92147	0.561000	0.74099	CGA	-	NULL		0.592	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5S1	protein_coding	OTTHUMT00000077768.2	G	NM_018347	-		3802829	1	no_errors	ENST00000246041	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3802829	G	A	3802829	3	1	158	1	0	0	0	0	1	0	0	0	2110	1058	37	1	67	1	C20orf29	20	3802829	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09		3802829	59222691	39	11357											
SIK1	150094	genome.wustl.edu	37	chr21	44836772	44836772	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggcggtggggccggtgccAatgtgcaggtgtgtgtccag	20	8	0	0	rs368699653		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chr21:44836772A>T	ENST00000270162.6	-	14	2334	c.2202T>A	c.(2200-2202)atT>atA	p.I734I		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	734					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GGCCGGTGCCAATGTGCAGGT	0.741																																																	0								ENSG00000142178						9	10	10					21																	44836772		2154	4204	6358	SIK1	SO:0001819	synonymous_variant	0			-	HGNC	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2202T>A	21.37:g.44836772A>T		Somatic	0	16	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I734	ENST00000270162.6	37	c.2202	CCDS33575.1	21																																																																																			-	pirsf_Ser/Thr_kinase_SIK1/2		0.741	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	protein_coding	OTTHUMT00000195654.1	A	NM_173354	-		44836772	-1	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44836772	A	T	44836772	2	4	158	1	0	0	0	0	0	0	0	1	14325	126	5	5		5	SIK1	21	44836772	Silent	SNP	A	TCGA-IS-A3K6-01A-11D-A21Q-09		44836772	3293123	40	11358											
ALAS2	212	genome.wustl.edu	37	chrX	55047609	55047609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagggatatgcatcagCccagcggttcacagtcttga	12	10	3	1	rs137852304		TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chrX:55047609C>A	ENST00000330807.5	-	5	651	c.514G>T	c.(514-516)Gct>Tct	p.A172S	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000396198.3_Missense_Mutation_p.A159S|ALAS2_ENST00000335854.4_Missense_Mutation_p.A135S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	172					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TATGCATCAGCCCAGCGGTTC	0.478																																																	0			GRCh37	CM950022	ALAS2	M	rs137852304	ENSG00000158578						169	120	137					X																	55047609		2203	4300	6503	ALAS2	SO:0001583	missense	0			-	HGNC		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.514G>T	X.37:g.55047609C>A	ENSP00000332369:p.Ala172Ser	Somatic	0	45	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.A172S	ENST00000330807.5	37	c.514	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963109	0.92791	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.94966	-3.57;-3.57;-3.57	4.92	4.92	0.64577	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74348	0.976;0.983;0.983	D	0.97692	1.0179	10	0.66056	D	0.02	-12.927	16.2829	0.82707	0.0:1.0:0.0:0.0	.	135;159;172	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	S	172;159;135	ENSP00000332369:A172S;ENSP00000379501:A159S;ENSP00000337131:A135S	ENSP00000332369:A172S	A	-	1	0	ALAS2	55064334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.185000	0.69588	0.529000	0.55759	GCT	-	superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth		0.478	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	protein_coding	OTTHUMT00000056843.3	C	NM_000032	-		55047609	-1	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55047609	C	A	55047609	3	1	158	1	0	0	0	0	1	0	0	0	485	739	26	3	1277	3	ALAS2	23	55047609	Missense_Mutation	SNP	C	TCGA-IS-A3K6-01A-11D-A21Q-09		55047609	100222951	41	11359											
AFF2	2334	genome.wustl.edu	37	chrX	148037568	148037568	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaagtgtggagcttcatGacccaccaagaggccgcaac	11	11	1	3			TCGA-IS-A3K6-01A-11D-A21Q-09	TCGA-IS-A3K6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9f8cfe2-7763-4819-9eba-216402df0178	bc5408cd-0b90-4d80-a68b-4c8ced85ff2a	g.chrX:148037568G>T	ENST00000370460.2	+	11	2472	c.1993G>T	c.(1993-1995)Gac>Tac	p.D665Y	AFF2_ENST00000370457.5_Missense_Mutation_p.D632Y|AFF2_ENST00000286437.5_Missense_Mutation_p.D306Y|AFF2_ENST00000342251.3_Missense_Mutation_p.D632Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	665					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)			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)					GGAGCTTCATGACCCACCAAG	0.488																																																	0								ENSG00000155966						87	91	90					X																	148037568		2203	4300	6503	AFF2	SO:0001583	missense	0			-	HGNC	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.1993G>T	X.37:g.148037568G>T	ENSP00000359489:p.Asp665Tyr	Somatic	0	30	0		0.53093496040268				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.D665Y	ENST00000370460.2	37	c.1993	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766252	0.69878	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.67	5.67	0.87782	.	0.536654	0.19612	N	0.110117	T	0.72630	0.3484	L	0.54323	1.7	0.39202	D	0.963165	P;P;P;P;P;P	0.48589	0.912;0.786;0.786;0.786;0.786;0.822	P;B;B;B;B;P	0.54629	0.757;0.319;0.319;0.319;0.44;0.576	T	0.75445	-0.3315	10	0.62326	D	0.03	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	306;630;632;626;655;665	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	665;632;632;306	ENSP00000359489:D665Y;ENSP00000359486:D632Y;ENSP00000345459:D632Y;ENSP00000286437:D306Y	ENSP00000286437:D306Y	D	+	1	0	AFF2	147845268	1.000000	0.71417	0.991000	0.47740	0.914000	0.54420	6.768000	0.74980	2.372000	0.80975	0.600000	0.82982	GAC	-	pfam_TF_AF4/FMR2		0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	-		148037568	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148037568	G	T	148037568	3	4	158	1	0	0	0	0	1	0	0	0	357	1290	45	3	2090	3	AFF2	23	148037568	Missense_Mutation	SNP	G	TCGA-IS-A3K6-01A-11D-A21Q-09	92989959	148037568	7232992	42	11360											
PTCHD2	57540	genome.wustl.edu	37	chr1	11579882	11579882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcgtgcagctgcaggaGctgctgcaccactgggtcct	12	14	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr1:11579882G>A	ENST00000294484.6	+	9	2283	c.2145G>A	c.(2143-2145)gaG>gaA	p.E715E	PTCHD2_ENST00000389575.3_Silent_p.E715E	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	715					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCTGCAGGAGCTGCTGCACC	0.672																																																	0								ENSG00000204624						50	60	57					1																	11579882		2076	4210	6286	PTCHD2	SO:0001819	synonymous_variant	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2145G>A	1.37:g.11579882G>A		Somatic	0	50	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q5VTU9|Q9UJD6	Silent	SNP	29	0	0	28	36.36	16	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.E715	ENST00000294484.6	37	c.2145	CCDS41247.1	1																																																																																			-	pfam_Patched		0.672	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	G	XM_052561	-		11579882	1	no_errors	ENST00000294484	ensembl	human	known	74_37	silent	SNP	1.000	A	A	11579882	G	A	11579882	2	1	159	1	0	0	0	0	0	0	0	1	12738	962	34	2		2	PTCHD2	1	11579882	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		11579882	237670739	1	11361											
ZSCAN20	7579	genome.wustl.edu	37	chr1	33956909	33956909	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgaaaagctccggacttgtCaccagaaccgccaggtatat	9	12	1	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr1:33956909C>G	ENST00000361328.3	+	6	1204	c.1051C>G	c.(1051-1053)Cac>Gac	p.H351D	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.H297D	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	351					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGACTTGTCACCAGAACCG	0.522																																																	0								ENSG00000121903						70	76	74					1																	33956909		1947	4154	6101	ZSCAN20	SO:0001583	missense	0			-	HGNC	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1051C>G	1.37:g.33956909C>G	ENSP00000355053:p.His351Asp	Somatic	0	45	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	17	51.43	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	34	0	0	19	64.15	34	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H351D	ENST00000361328.3	37	c.1051	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979700	0.74360	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.41758	0.99	5.74	5.74	0.90152	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000003	T	0.70928	0.3280	M	0.92459	3.31	0.42249	D	0.991961	D;B;D	0.89917	0.999;0.42;1.0	D;B;D	0.87578	0.973;0.12;0.998	T	0.71676	-0.4521	10	0.23302	T	0.38	-31.027	15.8024	0.78463	0.0:1.0:0.0:0.0	.	351;297;351	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	D	297;351;297;285;285	ENSP00000362512:H297D	ENSP00000324450:H351D	H	+	1	0	ZSCAN20	33729496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.956000	0.49129	2.884000	0.98904	0.655000	0.94253	CAC	-	smart_SANT/Myb		0.522	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	protein_coding	OTTHUMT00000277003.2	C	NM_145238	-		33956909	1	no_errors	ENST00000361328	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33956909	C	G	33956909	3	3	159	1	0	0	0	0	1	0	0	0	18239	826	29	4	1069	4	ZSCAN20	1	33956909	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	22377027	33956909	215293712	2	11362											
WDR3	10885	genome.wustl.edu	37	chr1	118483749	118483749	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcttcttctgtagcgAatcctttcatgcagaaaagc	7	11	4	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr1:118483749A>C	ENST00000349139.5	+	8	839	c.792A>C	c.(790-792)cgA>cgC	p.R264R	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	264						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCTGTAGCGAATCCTTTCAT	0.408																																																	0								ENSG00000065183						99	93	95					1																	118483749		2203	4300	6503	WDR3	SO:0001819	synonymous_variant	0			-	HGNC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.792A>C	1.37:g.118483749A>C		Somatic	0	31	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23		Silent	SNP	41	0	0	54	33.33	27	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R264	ENST00000349139.5	37	c.792	CCDS898.1	1																																																																																			-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.408	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	protein_coding	OTTHUMT00000033720.2	A	NM_006784	-		118483749	1	no_errors	ENST00000349139	ensembl	human	known	74_37	silent	SNP	0.292	C	C	118483749	A	C	118483749	2	2	159	1	0	0	0	0	0	0	0	1	17292	233	9	5		5	WDR3	1	118483749	Silent	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	84526840	118483749	130766872	3	11363											
BAT2L2	23215	genome.wustl.edu	37	chr1	171519345	171519345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaacgtttacaggatgAagaacgccgaaagaaggaag	11	6	0	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr1:171519345A>G	ENST00000338920.4	+	18	5324	c.5087A>G	c.(5086-5088)gAa>gGa	p.E1696G	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1696G|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E1698G|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1698G	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1696					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TTACAGGATGAAGAACGCCGA	0.358																																																	0								ENSG00000117523						72	62	65					1																	171519345		2203	4300	6503	PRRC2C	SO:0001583	missense	0			-	HGNC	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.5087A>G	1.37:g.171519345A>G	ENSP00000343629:p.Glu1696Gly	Somatic	0	63	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	36	33.33	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	35	0	0	46	30.30	20	pfam_BAT2_N	p.E1698G	ENST00000338920.4	37	c.5093	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.00|13.00	2.107413|2.107413	0.37145|0.37145	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.02552|.	4.26;4.26;4.25;4.26|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.45606|.	U|.	0.000349|.	T|T	0.63792|0.63792	0.2541|0.2541	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.64546|0.64546	-0.6382|-0.6382	10|5	0.87932|.	D|.	0|.	.|.	15.4747|15.4747	0.75468|0.75468	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1696|.	Q9Y520-4|.	.|.	G|E	1698;1697;1696;1698;1696;1453|244	ENSP00000375928:E1698G;ENSP00000410219:E1696G;ENSP00000356716:E1698G;ENSP00000343629:E1696G|.	ENSP00000343629:E1696G|.	E|K	+|+	2|1	0|0	PRRC2C|PRRC2C	169785969|169785969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.519000|0.519000	0.34347|0.34347	8.952000|8.952000	0.93031|0.93031	2.065000|2.065000	0.61736|0.61736	0.451000|0.451000	0.29950|0.29950	GAA|AAG	-	NULL		0.358	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	protein_coding	OTTHUMT00000314826.4	A	NM_015172	-		171519345	1	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	SNP	1.000	G	G	171519345	A	G	171519345	3	3	159	1	0	0	0	0	1	0	0	0	1321	246	9	5	5153	5	BAT2L2	1	171519345	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	53035596	171519345	77731276	4	11364											
CACNA1E	777	genome.wustl.edu	37	chr1	181686247	181686247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacacctctggcccgagCcagtatcaaaagtgcaaagg	11	12	2	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr1:181686247C>A	ENST00000367573.2	+	11	1334	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A52D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A445D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A445D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A396D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A445D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A396D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	445					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						CTGGCCCGAGCCAGTATCAAA	0.522																																																	0								ENSG00000198216						84	82	83					1																	181686247		1888	4112	6000	CACNA1E	SO:0001583	missense	0			-	HGNC	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.1334C>A	1.37:g.181686247C>A	ENSP00000356545:p.Ala445Asp	Somatic	0	28	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	44	0	0	37	39.34	24	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A445D	ENST00000367573.2	37	c.1334	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916506	0.73098	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96774	-3.97;-3.98;-3.97;-3.96;-4.12;-3.97;-3.97	5.25	5.25	0.73442	.	0.536073	0.19883	N	0.103932	D	0.96234	0.8772	M	0.77103	2.36	0.53005	D	0.999965	P;P	0.44429	0.739;0.835	B;B	0.41894	0.369;0.369	D	0.96700	0.9517	10	0.56958	D	0.05	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	445;445	Q15878-2;Q15878-3	.;.	D	445;445;396;396;52;445;445	ENSP00000356542:A445D;ENSP00000434814:A445D;ENSP00000350183:A396D;ENSP00000351101:A396D;ENSP00000356539:A52D;ENSP00000353222:A445D;ENSP00000356545:A445D	ENSP00000350183:A396D	A	+	2	0	CACNA1E	179952870	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	3.263000	0.51546	2.597000	0.87782	0.655000	0.94253	GCC	-	NULL		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721	-		181686247	1	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	SNP	1.000	A	A	181686247	C	A	181686247	3	1	159	1	0	0	0	0	1	0	0	0	2544	739	26	3	1376	3	CACNA1E	1	181686247	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	10166902	181686247	67564374	5	11365											
PM20D1	148811	genome.wustl.edu	37	chr1	205811878	205811878	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcattggtgtctgctccaAtctggaagagaaacagagtc	12	8	2	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr1:205811878A>G	ENST00000367136.4	-	7	873	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	277					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCTGCTCCAATCTGGAAGAG	0.478																																																	0								ENSG00000162877						97	88	91					1																	205811878		2203	4300	6503	PM20D1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.828-1T>C	1.37:g.205811878A>G		Somatic	0	46	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	Q6P4E3|Q96DM4	Silent	SNP	49	0	0	37	41.27	26	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.L277	ENST00000367136.4	37	c.829	CCDS1460.1	1																																																																																			-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer		0.478	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	protein_coding	OTTHUMT00000087736.1	A	NM_152491	-	Silent	205811878	-1	no_errors	ENST00000367136	ensembl	human	known	74_37	silent	SNP	1.000	G	G	205811878	A	G	205811878	5	3	159	1	0	0	0	0	0	0	1	0	12130	115	4	5	707	5	PM20D1	1	205811878	Splice_Site	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	24125631	205811878	43438743	6	11366											
OTOF	9381	genome.wustl.edu	37	chr2	26698230	26698230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagcccacccataccatGgaatcctggtcatagatttc	7	14	1	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:26698230G>A	ENST00000272371.2	-	25	3249	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S	OTOF_ENST00000402415.3_Silent_p.S351S|OTOF_ENST00000338581.6_Silent_p.S294S|OTOF_ENST00000403946.3_Silent_p.S1041S|OTOF_ENST00000339598.3_Silent_p.S294S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1041	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCATACCATGGAATCCTGGT	0.587																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155						85	72	77					2																	26698230		2203	4300	6503	OTOF	SO:0001819	synonymous_variant	0			-	HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3123C>T	2.37:g.26698230G>A		Somatic	0	56	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	46	44.58	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	23	0	0	36	40.00	24	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S1041	ENST00000272371.2	37	c.3123	CCDS1725.1	2																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	G		-		26698230	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	SNP	0.999	A	A	26698230	G	A	26698230	2	1	159	1	0	0	0	0	0	0	0	1	11305	1335	47	2		2	OTOF	2	26698230	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		26698230	216501143	7	11367			1	84		2	2	31	G		9.884279e-05
OTOF	9381	genome.wustl.edu	37	chr2	26698260	26698260	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatagatttcaatgacaatGatgggcggatcgtccctcag	10	9	3	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:26698260G>A	ENST00000272371.2	-	25	3219	c.3093C>T	c.(3091-3093)atC>atT	p.I1031I	OTOF_ENST00000402415.3_Silent_p.I341I|OTOF_ENST00000338581.6_Silent_p.I284I|OTOF_ENST00000403946.3_Silent_p.I1031I|OTOF_ENST00000339598.3_Silent_p.I284I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1031	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATGACAATGATGGGCGGAT	0.567																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155						100	83	89					2																	26698260		2203	4300	6503	OTOF	SO:0001819	synonymous_variant	0			-	HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3093C>T	2.37:g.26698260G>A		Somatic	0	57	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	46	35.21	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	34	0	0	35	36.36	20	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.I1031	ENST00000272371.2	37	c.3093	CCDS1725.1	2																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	G		-		26698260	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26698260	G	A	26698260	2	1	159	1	0	0	0	0	0	0	0	1	11305	1280	45	2		2	OTOF	2	26698260	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	30	26698260	216501113	8	11368			1	84		2	2	31	G		9.884279e-05
ALK	238	genome.wustl.edu	37	chr2	29519861	29519861	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctccttcccggttttgttCtccactagcaccaaggacac	7	15	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:29519861C>G	ENST00000389048.3	-	9	2616	c.1710G>C	c.(1708-1710)gaG>gaC	p.E570D	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	570	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGGTTTTGTTCTCCACTAGCA	0.552			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0								ENSG00000171094						171	134	146					2																	29519861		2203	4300	6503	ALK	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	-	HGNC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1710G>C	2.37:g.29519861C>G	ENSP00000373700:p.Glu570Asp	Somatic	0	59	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	35	46.97	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	32	0	0	36	34.55	19	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E570D	ENST00000389048.3	37	c.1710	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949997	0.53186	.	.	ENSG00000171094	ENST00000389048	T	0.02345	4.33	5.2	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.46442	U	0.000282	T	0.04137	0.0115	N	0.24115	0.695	0.80722	D	1	P	0.52692	0.955	P	0.51701	0.677	T	0.60722	-0.7207	9	.	.	.	.	10.8377	0.46696	0.0:0.912:0.0:0.088	.	570	Q9UM73	ALK_HUMAN	D	570	ENSP00000373700:E570D	.	E	-	3	2	ALK	29373365	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.157000	0.31724	1.197000	0.43143	0.563000	0.77884	GAG	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom		0.552	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	C	NM_004304	-		29519861	-1	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	SNP	1.000	G	G	29519861	C	G	29519861	3	3	159	1	0	0	0	0	1	0	0	0	525	912	32	4	3236	4	ALK	2	29519861	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	2821601	29519861	213679512	9	11369											
ATL2	64225	genome.wustl.edu	37	chr2	38536561	38536561	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctctacaagtgactttagatCcacttatctctttttctacc	3	12	3	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:38536561C>G	ENST00000378954.4	-	9	1032	c.1031G>C	c.(1030-1032)gGa>gCa	p.G344A	ATL2_ENST00000546051.1_Missense_Mutation_p.G173A|ATL2_ENST00000402054.1_Missense_Mutation_p.G173A|ATL2_ENST00000419554.2_Missense_Mutation_p.G344A|ATL2_ENST00000539122.1_Missense_Mutation_p.G173A|ATL2_ENST00000452935.2_Missense_Mutation_p.G326A|ATL2_ENST00000406122.1_Missense_Mutation_p.G173A|ATL2_ENST00000332337.4_Missense_Mutation_p.G326A	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	344					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GACTTTAGATCCACTTATCTC	0.338																																																	0								ENSG00000119787						88	88	88					2																	38536561		2203	4300	6503	ATL2	SO:0001583	missense	0			-	HGNC		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1031G>C	2.37:g.38536561C>G	ENSP00000368237:p.Gly344Ala	Somatic	0	27	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	47	0	0	46	23.33	14	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.G344A	ENST00000378954.4	37	c.1031	CCDS46260.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.350139	0.95830	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130	T;T;T;T;T;T;T;T;D	0.92699	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-3.09	6.17	6.17	0.99709	Guanylate-binding protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96935	0.8999	M	0.89414	3.03	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	0.91635	0.963;0.999;0.996;0.997;0.999	D	0.96813	0.9598	10	0.87932	D	0	-19.45	19.8676	0.96824	0.0:1.0:0.0:0.0	.	173;326;326;344;344	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	A	344;173;173;173;326;344;326;173;162	ENSP00000368237:G344A;ENSP00000385446:G173A;ENSP00000384062:G173A;ENSP00000446192:G173A;ENSP00000333393:G326A;ENSP00000415336:G344A;ENSP00000390743:G326A;ENSP00000438938:G173A;ENSP00000409811:G162A	ENSP00000333393:G326A	G	-	2	0	ATL2	38390065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.669000	0.83911	2.941000	0.99782	0.655000	0.94253	GGA	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.338	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	protein_coding	OTTHUMT00000219886.2	C	NM_022374	-		38536561	-1	no_errors	ENST00000378954	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38536561	C	G	38536561	3	3	159	1	0	0	0	0	1	0	0	0	1107	855	30	4	852	4	ATL2	2	38536561	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	9016700	38536561	204662812	10	11370											
SERTAD2	9792	genome.wustl.edu	37	chr2	64863377	64863377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcggctctcttgaggaCcgtcgagtttctgggtgcca	14	12	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:64863377C>T	ENST00000313349.3	-	2	926	c.629G>A	c.(628-630)gGt>gAt	p.G210D	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	210					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CTCTTGAGGACCGTCGAGTTT	0.572																																																	0								ENSG00000179833						62	65	64					2																	64863377		2203	4300	6503	SERTAD2	SO:0001583	missense	0			-	HGNC	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.629G>A	2.37:g.64863377C>T	ENSP00000326933:p.Gly210Asp	Somatic	0	27	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q53TS2	Missense_Mutation	SNP	26	0	0	42	19.23	10	pfam_SERTA,pfscan_SERTA	p.G210D	ENST00000313349.3	37	c.629	CCDS33210.1	2	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266271	0.23136	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.73	4.85	0.62838	.	0.341559	0.34291	N	0.004091	T	0.57154	0.2034	L	0.58101	1.795	0.45452	D	0.99842	B	0.28713	0.22	B	0.21708	0.036	T	0.54918	-0.8221	9	0.32370	T	0.25	-10.9053	14.591	0.68365	0.0:0.9298:0.0:0.0702	.	210	Q14140	SRTD2_HUMAN	D	210	.	ENSP00000326933:G210D	G	-	2	0	SERTAD2	64716881	0.997000	0.39634	0.632000	0.29296	0.007000	0.05969	3.171000	0.50824	1.420000	0.47138	0.655000	0.94253	GGT	-	NULL		0.572	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD2	protein_coding	OTTHUMT00000327322.2	C	NM_014755	-		64863377	-1	no_errors	ENST00000313349	ensembl	human	known	74_37	missense	SNP	0.935	T	T	64863377	C	T	64863377	3	4	159	1	0	0	0	0	1	0	0	0	14129	507	18	2	319	2	SERTAD2	2	64863377	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	26326816	64863377	178335996	11	11371											
SLC20A1	6574	genome.wustl.edu	37	chr2	113414767	113414767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgtgcagttttctgtGcccttatcgtctggttcttt	11	8	3	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:113414767G>T	ENST00000272542.3	+	6	1266	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	243					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.A243S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGTTTTCTGTGCCCTTATCGT	0.413																																																	1	Substitution - Missense(1)	urinary_tract(1)						ENSG00000144136						192	189	190					2																	113414767		2203	4300	6503	SLC20A1	SO:0001583	missense	0			-	HGNC		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.727G>T	2.37:g.113414767G>T	ENSP00000272542:p.Ala243Ser	Somatic	0	56	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	35	0	0	58	1.69	1	pfam_Phos_transporter	p.A243S	ENST00000272542.3	37	c.727	CCDS2099.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.109240|5.109240	0.94292|0.94292	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000272542;ENST00000409095|ENST00000433924	D|.	0.92299|.	-3.01|.	5.93|5.93	5.05|5.05	0.67936|0.67936	.|.	0.046163|.	0.85682|.	D|.	0.000000|.	T|T	0.68888|0.68888	0.3050|0.3050	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	P;P|.	0.50156|.	0.932;0.932|.	P;P|.	0.59546|.	0.859;0.859|.	T|T	0.67217|0.67217	-0.5726|-0.5726	10|6	0.62326|0.33940	D|T	0.03|0.23	-32.7026|-32.7026	12.8282|12.8282	0.57731|0.57731	0.0788:0.0:0.9212:0.0|0.0788:0.0:0.9212:0.0	.|.	243;243|.	A7LNJ1;Q8WUM9|.	.;S20A1_HUMAN|.	S|F	243;55|68	ENSP00000272542:A243S|.	ENSP00000272542:A243S|ENSP00000390021:C68F	A|C	+|+	1|2	0|0	SLC20A1|SLC20A1	113131238|113131238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.715000|7.715000	0.84713|0.84713	1.504000|1.504000	0.48704|0.48704	0.655000|0.655000	0.94253|0.94253	GCC|TGC	-	pfam_Phos_transporter		0.413	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	protein_coding	OTTHUMT00000254086.2	G	NM_005415	-		113414767	1	no_errors	ENST00000272542	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113414767	G	T	113414767	3	4	159	1	0	0	0	0	1	0	0	0	14446	1319	46	3	745	3	SLC20A1	2	113414767	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	48551390	113414767	129784606	12	11372											
SLC4A10	57282	genome.wustl.edu	37	chr2	162735640	162735640	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacctggtgatgcttgcaGgttgatctgcattttatgaa	10	6	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:162735640G>A	ENST00000446997.1	+	9	1041		c.e9-1		SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000535165.1_Splice_Site|SLC4A10_ENST00000375514.5_Splice_Site|SLC4A10_ENST00000272716.5_Splice_Site|SLC4A10_ENST00000421911.1_Splice_Site|SLC4A10_ENST00000493021.1_Splice_Site	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GATGCTTGCAGGTTGATCTGC	0.368																																																	0								ENSG00000144290						79	76	77					2																	162735640		1860	4092	5952	SLC4A10	SO:0001630	splice_region_variant	0			-	HGNC		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.949-1G>A	2.37:g.162735640G>A		Somatic	0	22	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Splice_Site	SNP	38	0	0	52	37.35	31	-	e9-1	ENST00000446997.1	37	c.949-1	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932462	0.92458	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A10	162443886	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	.	-	-		0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	protein_coding	OTTHUMT00000333090.1	G	NM_022058	-	Intron	162735640	1	no_errors	ENST00000446997	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	162735640	G	A	162735640	5	1	159	1	0	0	0	0	0	0	1	0	14659	1014	35	2	1067	2	SLC4A10	2	162735640	Splice_Site	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	49320873	162735640	80463733	13	11373											
ZAK	51776	genome.wustl.edu	37	chr2	174131048	174131048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaactctagggacagtgGcttttccagtggcaatactg	10	10	2	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:174131048G>A	ENST00000375213.3	+	20	2051	c.1973G>A	c.(1972-1974)gGc>gAc	p.G658D	MLTK_ENST00000409176.2_Missense_Mutation_p.G658D|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		658					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AGGGACAGTGGCTTTTCCAGT	0.458																																																	0								ENSG00000091436						87	89	88					2																	174131048		1938	4149	6087	MLTK	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000375213.3:c.1973G>A	2.37:g.174131048G>A	ENSP00000364361:p.Gly658Asp	Somatic	0	29	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	36	0	0	59	21.33	16	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G658D	ENST00000375213.3	37	c.1973	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493692	0.26774	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.75050	-0.9;-0.9	5.87	4.05	0.47172	.	0.136590	0.64402	D	0.000004	T	0.60753	0.2293	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56577	-0.7956	10	0.66056	D	0.02	.	11.2243	0.48875	0.0659:0.0:0.8065:0.1276	.	658	Q9NYL2	MLTK_HUMAN	D	658	ENSP00000387259:G658D;ENSP00000364361:G658D	ENSP00000364361:G658D	G	+	2	0	AC013461.1	173839294	1.000000	0.71417	0.950000	0.38849	0.047000	0.14425	4.669000	0.61575	0.799000	0.34018	0.585000	0.79938	GGC	-	NULL		0.458	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	G		-		174131048	1	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	SNP	1.000	A	A	174131048	G	A	174131048	3	1	159	1	0	0	0	0	1	0	0	0	17519	1203	42	2	2432	2	ZAK	2	174131048	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	11395408	174131048	69068325	14	11374											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202358884	202358884	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaaatcttgtttttttTccaatacgttgtcttccata	4	7	2	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:202358884T>C	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Missense_Mutation_p.E727G|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTGTTTTTTTTCCAATACGTT	0.299																																																	0								ENSG00000155754						30	23	25					2																	202358884		692	1579	2271	ALS2CR11	SO:0001627	intron_variant	0			-	HGNC	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.1581+1733A>G	2.37:g.202358884T>C		Somatic	0	35	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	49	0	0	68	21.84	19	superfamily_C2_dom	p.E727G	ENST00000286195.3	37	c.2180	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	t	6.231	0.410796	0.11812	.	.	ENSG00000155754	ENST00000439140	T	0.53857	0.6	5.19	-4.75	0.03239	.	.	.	.	.	T	0.18045	0.0433	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11372	-1.0590	9	0.27082	T	0.32	.	2.0996	0.03676	0.1192:0.2579:0.1222:0.5007	.	727	E9PGG4	.	G	727	ENSP00000409937:E727G	ENSP00000409937:E727G	E	-	2	0	ALS2CR11	202067129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.120000	0.10660	-0.999000	0.03442	-2.080000	0.00379	GAA	-	NULL		0.299	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	protein_coding	OTTHUMT00000256296.2	T	NM_152525	-		202358884	-1	no_errors	ENST00000439140	ensembl	human	novel	74_37	missense	SNP	0.000	C	C	202358884	T	C	202358884	1	2	159	0	1	0	0	0	0	0	0	0	552	1783	62	5		5	ALS2CR11	2	202358884	Intron	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	28227836	202358884	40840489	15	11375											
MRPL44	65080	genome.wustl.edu	37	chr2	224831683	224831683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatggattcacagaaaatAgacggccgtggaactattcc	9	8	1	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:224831683A>G	ENST00000258383.3	+	4	1000	c.931A>G	c.(931-933)Aga>Gga	p.R311G	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	311					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACAGAAAATAGACGGCCGTG	0.473																																																	0								ENSG00000135900						80	89	86					2																	224831683		2203	4300	6503	MRPL44	SO:0001583	missense	0			-	HGNC	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.931A>G	2.37:g.224831683A>G	ENSP00000258383:p.Arg311Gly	Somatic	0	38	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	35	0	0	18	51.35	19	superfamily_RNase_III_dom,pfscan_dsRNA-bd_dom	p.R311G	ENST00000258383.3	37	c.931	CCDS2459.1	2	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979542	0.34942	.	.	ENSG00000135900	ENST00000258383	T	0.53423	0.62	5.88	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	M	0.87180	2.865	0.54753	D	0.999988	D	0.89917	1.0	D	0.74023	0.982	T	0.72686	-0.4218	10	0.87932	D	0	-22.4982	12.3816	0.55309	0.5621:0.4379:0.0:0.0	.	311	Q9H9J2	RM44_HUMAN	G	311	ENSP00000258383:R311G	ENSP00000258383:R311G	R	+	1	2	MRPL44	224539927	0.931000	0.31567	0.023000	0.16930	0.018000	0.09664	1.643000	0.37217	0.117000	0.18138	0.482000	0.46254	AGA	-	NULL		0.473	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	protein_coding	OTTHUMT00000256866.2	A	NM_022915	-		224831683	1	no_errors	ENST00000258383	ensembl	human	known	74_37	missense	SNP	0.682	G	G	224831683	A	G	224831683	3	3	159	1	0	0	0	0	1	0	0	0	9810	412	15	5	945	5	MRPL44	2	224831683	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	22472799	224831683	18367690	16	11376											
ANKMY1	51281	genome.wustl.edu	37	chr2	241420382	241420382	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaggtccccgcagtccttCttgtggaactcggtccaggc	11	15	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:241420382C>T	ENST00000272972.3	-	16	2965	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	ANKMY1_ENST00000401804.1_Silent_p.K1006K|ANKMY1_ENST00000391987.1_Silent_p.K917K|ANKMY1_ENST00000373320.4_Silent_p.K687K|ANKMY1_ENST00000361678.4_Silent_p.K693K|ANKMY1_ENST00000373318.2_Silent_p.K696K|ANKMY1_ENST00000406958.1_Silent_p.K678K|ANKMY1_ENST00000403283.1_Silent_p.K819K	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	917							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGCAGTCCTTCTTGTGGAACT	0.672																																																	0								ENSG00000144504						113	103	106					2																	241420382		2203	4300	6503	ANKMY1	SO:0001819	synonymous_variant	0			-	HGNC	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2751G>A	2.37:g.241420382C>T		Somatic	0	133	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	119	24.20	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	37	0	0	59	22.37	17	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.K917	ENST00000272972.3	37	c.2751	CCDS2536.1	2																																																																																			-	pfam_Znf_MYND,pfscan_Znf_MYND		0.672	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	protein_coding	OTTHUMT00000257187.2	C	NM_017844	-		241420382	-1	no_errors	ENST00000272972	ensembl	human	known	74_37	silent	SNP	0.842	T	T	241420382	C	T	241420382	2	4	159	1	0	0	0	0	0	0	0	1	634	912	32	2		2	ANKMY1	2	241420382	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	16588699	241420382	1778991	17	11377			2	85	214722122	3	3	134	C		9.527074e-08
ANKMY1	51281	genome.wustl.edu	37	chr2	241420409	241420409	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactcggtccaggccttggtCttgcagtacttgctgcaggt	12	11	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:241420409C>G	ENST00000272972.3	-	16	2938	c.2724G>C	c.(2722-2724)aaG>aaC	p.K908N	ANKMY1_ENST00000401804.1_Missense_Mutation_p.K997N|ANKMY1_ENST00000391987.1_Missense_Mutation_p.K908N|ANKMY1_ENST00000373320.4_Missense_Mutation_p.K678N|ANKMY1_ENST00000361678.4_Missense_Mutation_p.K684N|ANKMY1_ENST00000373318.2_Missense_Mutation_p.K687N|ANKMY1_ENST00000406958.1_Missense_Mutation_p.K669N|ANKMY1_ENST00000403283.1_Missense_Mutation_p.K810N	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	908							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGCCTTGGTCTTGCAGTACT	0.637																																																	0								ENSG00000144504						117	108	111					2																	241420409		2203	4300	6503	ANKMY1	SO:0001583	missense	0			-	HGNC	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2724G>C	2.37:g.241420409C>G	ENSP00000272972:p.Lys908Asn	Somatic	0	135	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	135	24.02	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	30	0	0	50	28.57	20	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.K908N	ENST00000272972.3	37	c.2724	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864497	0.51482	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	T;T;T;T;T;T;T;T	0.68331	2.32;3.17;-0.28;1.71;-0.28;3.87;1.83;-0.32	3.65	1.76	0.24704	Zinc finger, MYND-type (3);	0.195489	0.32624	U	0.005841	T	0.73853	0.3640	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.999;0.983;1.0;0.999;0.993	D;D;P;D;D;D	0.85130	0.955;0.974;0.863;0.997;0.976;0.955	T	0.72567	-0.4254	10	0.87932	D	0	-29.5151	6.803	0.23762	0.0:0.7539:0.0:0.2461	.	908;678;687;669;684;908	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	N	687;669;908;684;908;678;810;997	ENSP00000362415:K687N;ENSP00000384555:K669N;ENSP00000272972:K908N;ENSP00000355097:K684N;ENSP00000375847:K908N;ENSP00000362417:K678N;ENSP00000383968:K810N;ENSP00000385887:K997N	ENSP00000272972:K908N	K	-	3	2	ANKMY1	241069082	0.999000	0.42202	0.913000	0.36048	0.600000	0.36913	1.844000	0.39269	0.657000	0.30906	0.467000	0.42956	AAG	-	pfam_Znf_MYND,pfscan_Znf_MYND		0.637	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	protein_coding	OTTHUMT00000257187.2	C	NM_017844	-		241420409	-1	no_errors	ENST00000272972	ensembl	human	known	74_37	missense	SNP	0.899	G	G	241420409	C	G	241420409	3	3	159	1	0	0	0	0	1	0	0	0	634	912	32	4	109	4	ANKMY1	2	241420409	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	27	241420409	1778964	18	11378			2	85	214722122	3	3	134	C		9.527074e-08
ANKMY1	51281	genome.wustl.edu	37	chr2	241420515	241420515	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaacttgaagaagggaattCtgcaacagagcctcaccgtc	10	10	2	4			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr2:241420515C>T	ENST00000272972.3	-	16	2833		c.e16-1		ANKMY1_ENST00000401804.1_Splice_Site|ANKMY1_ENST00000391987.1_Splice_Site|ANKMY1_ENST00000373320.4_Splice_Site|ANKMY1_ENST00000361678.4_Splice_Site|ANKMY1_ENST00000373318.2_Splice_Site|ANKMY1_ENST00000406958.1_Splice_Site|ANKMY1_ENST00000403283.1_Splice_Site	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GAAGGGAATTCTGCAACAGAG	0.632																																																	0								ENSG00000144504						65	67	66					2																	241420515		2203	4300	6503	ANKMY1	SO:0001630	splice_region_variant	0			-	HGNC	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2619-1G>A	2.37:g.241420515C>T		Somatic	0	76	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	83	24.55	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Splice_Site	SNP	44	0	0	70	23.91	22	-	e15-1	ENST00000272972.3	37	c.2619-1	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154067	0.57259	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000407275	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7095	0.62659	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKMY1	241069188	0.999000	0.42202	0.362000	0.25862	0.917000	0.54804	5.315000	0.65810	1.892000	0.54788	0.467000	0.42956	.	-	-		0.632	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	protein_coding	OTTHUMT00000257187.2	C	NM_017844	-	Intron	241420515	-1	no_errors	ENST00000272972	ensembl	human	known	74_37	splice_site	SNP	0.828	T	T	241420515	C	T	241420515	5	4	159	1	0	0	0	0	0	0	1	0	634	927	32	2	215	2	ANKMY1	2	241420515	Splice_Site	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	106	241420515	1778858	19	11379			2	85	214722122	3	3	134	C		9.527074e-08
SPINK8	646424	genome.wustl.edu	37	chr3	48369805	48369805	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atggaggtagctagaacaagGatggcgtctgagcagatccc	14	8	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr3:48369805G>T	ENST00000434006.1	-	1	26	c.27C>A	c.(25-27)atC>atA	p.I9I		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	9						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTAGAACAAGGATGGCGTCTG	0.443																																																	0								ENSG00000229453						131	127	129					3																	48369805		1966	4160	6126	SPINK8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46822.1	3p21.31	2011-08-31			ENSG00000229453	ENSG00000229453		"Serine peptidase inhibitors, Kazal type"	33160	protein-coding gene	gene with protein product						16930550	Standard	NM_001080525		Approved		uc003csq.1	P0C7L1	OTTHUMG00000156832	ENST00000434006.1:c.27C>A	3.37:g.48369805G>T		Somatic	0	52	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	11	62.07		Silent	SNP	38	0	0	16	68.63	35	pfam_Kazal_dom,smart_Kazal_dom	p.I9	ENST00000434006.1	37	c.27	CCDS46822.1	3																																																																																			-	NULL		0.443	SPINK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK8	protein_coding	OTTHUMT00000346123.1	G	NM_001080525	-		48369805	-1	no_errors	ENST00000434006	ensembl	human	known	74_37	silent	SNP	0.002	T	T	48369805	G	T	48369805	2	4	159	1	0	0	0	0	0	0	0	1	15072	1164	41	3		3	SPINK8	3	48369805	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		48369805	149652625	20	11380											
CBLB	868	genome.wustl.edu	37	chr3	105421207	105421207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgtctggtgggattgGtggaggtctttcaggtggcg	17	5	4	0	rs542952599		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr3:105421207G>A	ENST00000264122.4	-	12	2011	c.1690C>T	c.(1690-1692)Cca>Tca	p.P564S	CBLB_ENST00000405772.1_Missense_Mutation_p.P564S|CBLB_ENST00000394027.3_Missense_Mutation_p.P586S|CBLB_ENST00000403724.1_Missense_Mutation_p.P564S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	564	Interaction with VAV1.|Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGTGGGATTGGTGGAGGTCTT	0.527			Mis S		AML								G|||	1	0.000199681	0	0	5008	,	,		13834	0		0.001	False		,,,				2504	0				GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0								ENSG00000114423						87	78	81					3																	105421207		2203	4300	6503	CBLB	SO:0001583	missense	0			-	HGNC	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1690C>T	3.37:g.105421207G>A	ENSP00000264122:p.Pro564Ser	Somatic	0	74	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	33	0	0	26	31.58	12	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.P564S	ENST00000264122.4	37	c.1690	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624157	0.46840	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.82984	-1.65;-1.63;-1.65;-1.67	5.36	5.36	0.76844	.	0.164723	0.56097	D	0.000039	T	0.71492	0.3346	N	0.16166	0.38	0.80722	D	1	B;B;B	0.26809	0.041;0.16;0.1	B;B;B	0.27715	0.037;0.082;0.054	T	0.67260	-0.5715	9	.	.	.	-12.1098	17.255	0.87053	0.0:0.0:1.0:0.0	.	586;564;564	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	S	564;586;564;564	ENSP00000264122:P564S;ENSP00000377595:P586S;ENSP00000384816:P564S;ENSP00000384938:P564S	.	P	-	1	0	CBLB	106903897	1.000000	0.71417	0.442000	0.26870	0.887000	0.51463	7.757000	0.85209	2.485000	0.83878	0.404000	0.27445	CCA	-	NULL		0.527	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	protein_coding	OTTHUMT00000319417.2	G	NM_170662	-		105421207	-1	no_errors	ENST00000264122	ensembl	human	known	74_37	missense	SNP	0.992	A	A	105421207	G	A	105421207	3	1	159	1	0	0	0	0	1	0	0	0	2703	1261	44	2	1290	2	CBLB	3	105421207	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	57051402	105421207	92601223	21	11381											
PARP14	54625	genome.wustl.edu	37	chr3	122437331	122437331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaatatgctatctccTggctacaagacctgattgaa	10	8	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr3:122437331T>C	ENST00000474629.2	+	14	4599	c.4333T>C	c.(4333-4335)Tgg>Cgg	p.W1445R	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1445					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)		TGCTATCTCCTGGCTACAAGA	0.398																																																	0								ENSG00000173193						87	91	89					3																	122437331		2124	4247	6371	PARP14	SO:0001583	missense	0			-	HGNC	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.4333T>C	3.37:g.122437331T>C	ENSP00000418194:p.Trp1445Arg	Somatic	0	23	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	37	0	0	46	38.67	29	pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.W1445R	ENST00000474629.2	37	c.4333	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	T	11.21	1.572823	0.28092	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.09255	3.0	5.38	5.38	0.77491	.	0.263942	0.34223	N	0.004153	T	0.34279	0.0892	M	0.83223	2.63	0.09310	N	0.999993	P;D	0.89917	0.587;1.0	B;D	0.65684	0.266;0.937	T	0.21861	-1.0233	10	0.56958	D	0.05	.	14.3556	0.66735	0.0:0.0:0.0:1.0	.	1445;1445	Q460N5-4;Q460N5	.;PAR14_HUMAN	R	1445;1364;48;441	ENSP00000418194:W1445R	ENSP00000310633:W48R	W	+	1	0	PARP14	123920021	1.000000	0.71417	0.143000	0.22291	0.034000	0.12701	3.505000	0.53356	2.262000	0.75019	0.528000	0.53228	TGG	-	NULL		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	protein_coding	OTTHUMT00000356173.2	T	NM_017554	-		122437331	1	no_errors	ENST00000474629	ensembl	human	known	74_37	missense	SNP	0.099	C	C	122437331	T	C	122437331	3	2	159	1	0	0	0	0	1	0	0	0	11460	1580	55	5	4387	5	PARP14	3	122437331	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	17016124	122437331	75585099	22	11382											
HTR3E	285242	genome.wustl.edu	37	chr3	183818417	183818417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcaacatctccttcgCgatgtctgccatcctagatg	7	14	3	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr3:183818417C>T	ENST00000415389.2	+	2	678	c.212C>T	c.(211-213)gCg>gTg	p.A71V	HTR3E_ENST00000335304.2_Missense_Mutation_p.A86V|HTR3E_ENST00000440596.2_Missense_Mutation_p.A86V|HTR3E_ENST00000425359.2_Missense_Mutation_p.A71V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.A86V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	71			A -> T (in dbSNP:rs7627615). {ECO:0000269|PubMed:19012743}.		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ATCTCCTTCGCGATGTCTGCC	0.562																																					Melanoma(7;227 727 6634 44770)												0								ENSG00000186038						131	123	126					3																	183818417		2203	4300	6503	HTR3E	SO:0001583	missense	0			-	HGNC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.212C>T	3.37:g.183818417C>T	ENSP00000401444:p.Ala71Val	Somatic	0	93	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	89	11.88	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	40	0	0	61	10.29	7	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.A86V	ENST00000415389.2	37	c.257	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	c	11.12	1.546203	0.27652	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	T;T;T;T;T	0.79352	-1.08;-1.26;-1.08;-1.26;-1.26	3.8	1.95	0.26073	Neurotransmitter-gated ion-channel ligand-binding (3);	0.082933	0.45606	U	0.000347	T	0.58206	0.2106	N	0.17474	0.49	0.19300	N	0.999973	B;B;B;B;B	0.25169	0.002;0.045;0.119;0.119;0.036	B;B;B;B;B	0.18263	0.01;0.021;0.02;0.012;0.012	T	0.52495	-0.8568	10	0.72032	D	0.01	.	6.736	0.23409	0.0:0.7134:0.1815:0.1051	.	86;71;86;86;71	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	71;71;86;86;86	ENSP00000401444:A71V;ENSP00000401900:A71V;ENSP00000335511:A86V;ENSP00000395833:A86V;ENSP00000406050:A86V	ENSP00000335511:A86V	A	+	2	0	HTR3E	185301111	0.513000	0.26194	0.693000	0.30195	0.800000	0.45204	0.970000	0.29383	0.368000	0.24481	0.655000	0.94253	GCG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.562	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	protein_coding	OTTHUMT00000346284.1	C	NM_182589	-		183818417	1	no_errors	ENST00000335304	ensembl	human	known	74_37	missense	SNP	0.940	T	T	183818417	C	T	183818417	3	4	159	1	0	0	0	0	1	0	0	0	7450	768	27	1	259	1	HTR3E	3	183818417	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	61381086	183818417	14204013	23	11383											
OPA1	4976	genome.wustl.edu	37	chr3	193372786	193372786	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaagcttaaacagtggacTgataaacaacttcctaataa	5	8	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr3:193372786T>A	ENST00000392438.3	+	20	2217	c.1983T>A	c.(1981-1983)acT>acA	p.T661T	OPA1_ENST00000361510.2_Silent_p.T716T|OPA1_ENST00000361150.2_Silent_p.T662T|OPA1_ENST00000361828.2_Silent_p.T679T|OPA1_ENST00000361908.3_Silent_p.T698T|OPA1_ENST00000361715.2_Silent_p.T680T	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	661					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AACAGTGGACTGATAAACAAC	0.363																																																	0								ENSG00000198836						86	86	86					3																	193372786		2203	4300	6503	OPA1	SO:0001819	synonymous_variant	0			-	HGNC	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1983T>A	3.37:g.193372786T>A		Somatic	0	36	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	D3DNW4	Silent	SNP	38	2.56	1	71	8.97	7	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.T716	ENST00000392438.3	37	c.2148	CCDS43186.1	3																																																																																			-	NULL		0.363	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	protein_coding	OTTHUMT00000313812.2	T	NM_130837	-		193372786	1	no_errors	ENST00000361510	ensembl	human	known	74_37	silent	SNP	1.000	A	A	193372786	T	A	193372786	2	1	159	1	0	0	0	0	0	0	0	1	10873	1567	55	5		5	OPA1	3	193372786	Silent	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	9554369	193372786	4649644	24	11384											
PIGG	54872	genome.wustl.edu	37	chr4	515060	515060	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggggactgtcgtggttttgGaggtacagatgctcacacag	15	7	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr4:515060G>T	ENST00000453061.2	+	7	1436	c.1330G>T	c.(1330-1332)Gag>Tag	p.E444*	PIGG_ENST00000509768.1_Nonsense_Mutation_p.E355*|PIGG_ENST00000536264.1_Intron|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000504346.1_Nonsense_Mutation_p.E355*|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000310340.5_Intron|PIGG_ENST00000383028.4_Nonsense_Mutation_p.E311*	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	444					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGTGGTTTTGGAGGTACAGAT	0.428																																																	0								ENSG00000174227						92	69	76					4																	515060		2203	4300	6503	PIGG	SO:0001587	stop_gained	0			-	HGNC		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1330G>T	4.37:g.515060G>T	ENSP00000415203:p.Glu444*	Somatic	0	28	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Nonsense_Mutation	SNP	40	0	0	84	0.00	0	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E444*	ENST00000453061.2	37	c.1330	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.275506	0.98179	.	.	ENSG00000174227	ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5831	0.87973	0.0:0.0:1.0:0.0	.	.	.	.	X	444;355;311;355	.	.	E	+	1	0	PIGG	505060	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.560000	0.67332	2.761000	0.94854	0.655000	0.94253	GAG	-	NULL		0.428	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	protein_coding	OTTHUMT00000357494.1	G	NM_017733	-		515060	1	no_errors	ENST00000453061	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	515060	G	T	515060	4	4	159	1	0	0	0	0	0	1	0	0	11890	1175	41	3	1356	3	PIGG	4	515060	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		515060	190639216	25	11385											
RGS12	6002	genome.wustl.edu	37	chr4	3318447	3318447	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcgatttgatgttggacatGaaagtataaataatccaaat	7	5	0	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr4:3318447G>T	ENST00000344733.5	+	2	1454	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	RGS12_ENST00000336727.3_Nonsense_Mutation_p.E184*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.E184*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.E184*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	184					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTTGGACATGAAAGTATAAA	0.388																																																	0								ENSG00000159788						60	63	62					4																	3318447		2203	4300	6503	RGS12	SO:0001587	stop_gained	0			-	HGNC	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.550G>T	4.37:g.3318447G>T	ENSP00000339381:p.Glu184*	Somatic	0	39	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	37	0	0	79	0.00	0	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.E184*	ENST00000344733.5	37	c.550	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.905398	0.97087	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	.	.	.	3.86	3.86	0.44501	.	0.679383	0.13411	U	0.389868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.917	14.7961	0.69878	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000338509:E184X	E	+	1	0	RGS12	3288245	0.996000	0.38824	0.002000	0.10522	0.146000	0.21551	6.941000	0.75922	1.705000	0.51264	0.491000	0.48974	GAA	-	NULL		0.388	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	protein_coding	OTTHUMT00000206602.1	G	NM_002926	-		3318447	1	no_errors	ENST00000344733	ensembl	human	known	74_37	nonsense	SNP	0.420	T	T	3318447	G	T	3318447	4	4	159	1	0	0	0	0	0	1	0	0	13303	1291	45	3	552	3	RGS12	4	3318447	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	2803387	3318447	187835829	26	11386											
LCORL	254251	genome.wustl.edu	37	chr4	17885560	17885560	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccattgcaatagcttctTccattatttcatgatcatat	3	9	3	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr4:17885560T>G	ENST00000382226.5	-	7	1700	c.1592A>C	c.(1591-1593)gAa>gCa	p.E531A	LCORL_ENST00000382224.1_Missense_Mutation_p.E447A|LCORL_ENST00000539056.1_Intron|LCORL_ENST00000326877.4_Intron	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	531	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATAGCTTCTTCCATTATTTC	0.398																																																	0								ENSG00000178177						256	202	219					4																	17885560		692	1591	2283	LCORL	SO:0001583	missense	0			-	HGNC		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.1592A>C	4.37:g.17885560T>G	ENSP00000371661:p.Glu531Ala	Somatic	0	47	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q96NK1	Missense_Mutation	SNP	36	0	0	52	29.73	22	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.E531A	ENST00000382226.5	37	c.1592	CCDS54749.1	4	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176091	0.57692	.	.	ENSG00000178177	ENST00000382224;ENST00000382226	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	N	0.14661	0.345	0.80722	D	1	.	.	.	.	.	.	T	0.59762	-0.7393	7	0.72032	D	0.01	.	14.8748	0.70485	0.0:0.0:0.0:1.0	.	.	.	.	A	447;531	.	ENSP00000371659:E447A	E	-	2	0	LCORL	17494658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	1.965000	0.57142	0.533000	0.62120	GAA	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq		0.398	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	protein_coding		T	NM_153686	-		17885560	-1	no_errors	ENST00000382226	ensembl	human	known	74_37	missense	SNP	1.000	G	G	17885560	T	G	17885560	3	3	159	1	0	0	0	0	1	0	0	0	8692	1783	62	5	405	5	LCORL	4	17885560	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	14567113	17885560	173268716	27	11387											
UTP3	57050	genome.wustl.edu	37	chr4	71555634	71555634	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagagagctattacctatCaaattgctaaaaatagggga	8	6	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr4:71555634C>T	ENST00000254803.2	+	1	1439	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	414					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TATTACCTATCAAATTGCTAA	0.373																																																	0								ENSG00000132467						77	83	81					4																	71555634		2203	4300	6503	UTP3	SO:0001587	stop_gained	0			-	HGNC	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1240C>T	4.37:g.71555634C>T	ENSP00000254803:p.Gln414*	Somatic	0	21	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	42.11	Q6FI82	Nonsense_Mutation	SNP	29	0	0	52	33.33	26	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.Q414*	ENST00000254803.2	37	c.1240	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.633910	0.97722	.	.	ENSG00000132467	ENST00000254803	.	.	.	5.46	5.46	0.80206	.	0.115349	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.0402	19.6793	0.95956	0.0:1.0:0.0:0.0	.	.	.	.	X	414	.	ENSP00000254803:Q414X	Q	+	1	0	UTP3	71774498	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.079000	0.64431	2.713000	0.92767	0.655000	0.94253	CAA	-	pfam_Sas10_C_dom		0.373	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	protein_coding	OTTHUMT00000252163.2	C	NM_020368	-		71555634	1	no_errors	ENST00000254803	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	71555634	C	T	71555634	4	4	159	1	0	0	0	0	0	1	0	0	17108	827	29	2	1242	2	UTP3	4	71555634	Nonsense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	53670074	71555634	119598642	28	11388											
PHF17	79960	genome.wustl.edu	37	chr4	129792902	129792902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgtgatctcattaaaggaGacttaaaggacaaatctttt	7	5	2	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr4:129792902G>A	ENST00000226319.6	+	11	2294	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	PHF17_ENST00000452328.2_Missense_Mutation_p.D660N|PHF17_ENST00000512960.1_Missense_Mutation_p.D672N	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CATTAAAGGAGACTTAAAGGA	0.458																																																	0								ENSG00000077684						65	64	65					4																	129792902		2203	4300	6503	PHF17	SO:0001583	missense	0			-	HGNC																												ENST00000226319.6:c.2014G>A	4.37:g.129792902G>A	ENSP00000226319:p.Asp672Asn	Somatic	0	22	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81		Missense_Mutation	SNP	34	0	0	32	56.76	42	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D672N	ENST00000226319.6	37	c.2014	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777549	0.49786	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.39787	1.06;1.06;1.06	4.59	4.59	0.56863	.	0.431641	0.25762	N	0.028476	T	0.28167	0.0695	L	0.27053	0.805	0.80722	D	1	B;B	0.25105	0.053;0.118	B;B	0.21917	0.013;0.037	T	0.06303	-1.0834	9	.	.	.	.	11.4641	0.50227	0.0821:0.0:0.9179:0.0	.	660;672	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	N	672;660;672;672	ENSP00000226319:D672N;ENSP00000388015:D660N;ENSP00000425730:D672N	.	D	+	1	0	PHF17	130012352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.973000	0.63763	2.542000	0.85734	0.655000	0.94253	GAC	-	NULL		0.458	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	protein_coding	OTTHUMT00000364280.1	G		-		129792902	1	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	SNP	0.989	A	A	129792902	G	A	129792902	3	1	159	1	0	0	0	0	1	0	0	0	11830	942	33	2	2079	2	PHF17	4	129792902	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	58237268	129792902	61361374	29	11389											
PCDH10	57575	genome.wustl.edu	37	chr4	134073855	134073855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgagcacaacccctgcGgggccatcgtcaccggttac	10	16	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr4:134073855G>A	ENST00000264360.5	+	1	3386	c.2560G>A	c.(2560-2562)Ggg>Agg	p.G854R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	854					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAACCCCTGCGGGGCCATCGT	0.567																																																	0								ENSG00000138650						84	79	81					4																	134073855		2203	4300	6503	PCDH10	SO:0001583	missense	0			-	HGNC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2560G>A	4.37:g.134073855G>A	ENSP00000264360:p.Gly854Arg	Somatic	0	39	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	Q4W5F6|Q96SF0	Missense_Mutation	SNP	31	0	0	37	31.48	17	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G854R	ENST00000264360.5	37	c.2560	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907223	0.52333	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	5.0	5.0	0.66597	.	0.000000	0.45867	D	0.000325	T	0.32912	0.0845	N	0.19112	0.55	0.80722	D	1	D;D	0.60160	0.987;0.977	B;B	0.40285	0.325;0.219	T	0.10268	-1.0637	10	0.17369	T	0.5	.	17.9193	0.88961	0.0:0.0:1.0:0.0	.	854;854	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	854	ENSP00000264360:G854R	ENSP00000264360:G854R	G	+	1	0	PCDH10	134293305	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.491000	0.81471	2.318000	0.78349	0.557000	0.71058	GGG	-	NULL		0.567	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	protein_coding	OTTHUMT00000364457.2	G	NM_032961	-		134073855	1	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	SNP	1.000	A	A	134073855	G	A	134073855	3	1	159	1	0	0	0	0	1	0	0	0	11509	1116	39	1	2562	1	PCDH10	4	134073855	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	4280953	134073855	57080421	30	11390											
UGT3A2	167127	genome.wustl.edu	37	chr5	36039667	36039667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgagaacactgacacttCcatatcaccccttggggtag	8	12	1	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr5:36039667C>T	ENST00000282507.3	-	5	1088	c.987G>A	c.(985-987)tgG>tgA	p.W329*	UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.W295*|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.W27*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	329					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGACACTTCCATATCACCC	0.512																																																	0								ENSG00000168671						155	140	145					5																	36039667		2203	4300	6503	UGT3A2	SO:0001587	stop_gained	0			-	HGNC		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.987G>A	5.37:g.36039667C>T	ENSP00000282507:p.Trp329*	Somatic	0	60	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	56	15.15	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Nonsense_Mutation	SNP	31	0	0	44	27.87	17	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.W329*	ENST00000282507.3	37	c.987	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644889	0.67358	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	.	.	.	3.27	1.42	0.22433	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4882	0.27445	0.0:0.7288:0.1701:0.1011	.	.	.	.	X	329;295;27	.	ENSP00000282507:W329X	W	-	3	0	UGT3A2	36075424	1.000000	0.71417	0.183000	0.23137	0.388000	0.30384	3.964000	0.56780	0.379000	0.24794	0.655000	0.94253	TGG	-	pfam_UDP_glucos_trans		0.512	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	protein_coding	OTTHUMT00000253771.2	C	NM_174914	-		36039667	-1	no_errors	ENST00000282507	ensembl	human	known	74_37	nonsense	SNP	0.976	T	T	36039667	C	T	36039667	4	4	159	1	0	0	0	0	0	1	0	0	16971	856	30	2	596	2	UGT3A2	5	36039667	Nonsense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		36039667	144875593	31	11391											
LIFR	3977	genome.wustl.edu	37	chr5	38530658	38530658	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatatagaagaataaatgttGataacagccactggaaattt	8	4	0	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr5:38530658G>C	ENST00000263409.4	-	2	254	c.92C>G	c.(91-93)tCa>tGa	p.S31*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.S31*|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	31					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATAAATGTTGATAACAGCCA	0.363			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0								ENSG00000113594						105	106	106					5																	38530658		2203	4300	6503	LIFR	SO:0001587	stop_gained	0			-	HGNC	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.92C>G	5.37:g.38530658G>C	ENSP00000263409:p.Ser31*	Somatic	0	36	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q6LCD9	Nonsense_Mutation	SNP	43	0	0	31	44.64	25	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S31*	ENST00000263409.4	37	c.92	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.213427	0.95069	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990;ENST00000511561	.	.	.	5.5	2.12	0.27331	.	1.177030	0.06379	N	0.714899	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.4596	9.997	0.41905	0.1425:0.0:0.8575:0.0	.	.	.	.	X	31	.	ENSP00000263409:S31X	S	-	2	0	LIFR	38566415	0.003000	0.15002	0.000000	0.03702	0.050000	0.14768	1.283000	0.33237	0.143000	0.18926	0.650000	0.86243	TCA	-	NULL		0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	protein_coding	OTTHUMT00000253823.1	G	NM_002310	-		38530658	-1	no_errors	ENST00000263409	ensembl	human	known	74_37	nonsense	SNP	0.000	C	C	38530658	G	C	38530658	4	2	159	1	0	0	0	0	0	1	0	0	8782	1294	45	4	3277	4	LIFR	5	38530658	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	2490991	38530658	142384602	32	11392											
PCDHGA10	56106	genome.wustl.edu	37	chr5	140793419	140793419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgacgggggtgaccctctccGatctggcactgtccttgtca	12	14	3	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr5:140793419G>T	ENST00000398610.2	+	1	677	c.677G>T	c.(676-678)cGa>cTa	p.R226L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_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|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	226	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)			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)			GACCCTCTCCGATCTGGCACT	0.572																																																	0								ENSG00000253846						40	44	43					5																	140793419		2065	4209	6274	PCDHGA10	SO:0001583	missense	0			-	HGNC		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.677G>T	5.37:g.140793419G>T	ENSP00000381611:p.Arg226Leu	Somatic	0	75	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	29.17	Q9Y5E0	Missense_Mutation	SNP	33	0	0	38	28.30	15	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R226L	ENST00000398610.2	37	c.677	CCDS47292.1	5	.	.	.	.	.	.	.	.	.	.	g	9.602	1.128841	0.21041	.	.	ENSG00000253846	ENST00000398610	T	0.01685	4.69	5.69	3.71	0.42584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02649	0.0080	L	0.52364	1.645	0.09310	N	1	B;B	0.21381	0.044;0.055	B;B	0.31495	0.055;0.131	T	0.39742	-0.9599	9	0.36615	T	0.2	.	6.5321	0.22332	0.1562:0.0:0.5614:0.2824	.	226;226	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	L	226	ENSP00000381611:R226L	ENSP00000381611:R226L	R	+	2	0	PCDHGA10	140773603	0.000000	0.05858	0.982000	0.44146	0.858000	0.48976	-0.009000	0.12765	1.399000	0.46721	0.557000	0.71058	CGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.572	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	protein_coding	OTTHUMT00000374747.1	G	NM_018913	-		140793419	1	no_errors	ENST00000398610	ensembl	human	known	74_37	missense	SNP	0.000	T	T	140793419	G	T	140793419	3	4	159	1	0	0	0	0	1	0	0	0	11553	1058	37	3	679	3	PCDHGA10	5	140793419	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	102262761	140793419	40121841	33	11393											
PDGFRB	5159	genome.wustl.edu	37	chr5	149500489	149500489	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcgagtcccgcatgatgtCtcgagccaggccaaagtcac	10	13	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr5:149500489C>A	ENST00000261799.4	-	18	3017	c.2548G>T	c.(2548-2550)Gac>Tac	p.D850Y		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	850	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)	CGCATGATGTCTCGAGCCAGG	0.577			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0								ENSG00000113721						138	119	125					5																	149500489		2203	4300	6503	PDGFRB	SO:0001583	missense	0			-	HGNC	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.2548G>T	5.37:g.149500489C>A	ENSP00000261799:p.Asp850Tyr	Somatic	0	81	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	B5A957|Q8N5L4	Missense_Mutation	SNP	22	0	0	49	9.26	5	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D850Y	ENST00000261799.4	37	c.2548	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.191977	0.94923	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83755	-1.76	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.337088	0.22109	N	0.064509	D	0.88422	0.6432	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.968	D	0.89493	0.3758	10	0.87932	D	0	.	18.746	0.91792	0.0:1.0:0.0:0.0	.	850;850	A8KAM8;P09619	.;PGFRB_HUMAN	Y	850;520	ENSP00000261799:D850Y	ENSP00000261799:D850Y	D	-	1	0	PDGFRB	149480682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.504000	0.84457	0.655000	0.94253	GAC	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.577	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	protein_coding	OTTHUMT00000252332.1	C	NM_002609	-		149500489	-1	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	SNP	1.000	A	A	149500489	C	A	149500489	3	1	159	1	0	0	0	0	1	0	0	0	11664	913	32	3	796	3	PDGFRB	5	149500489	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	8707070	149500489	31414771	34	11394											
SLC6A7	6534	genome.wustl.edu	37	chr5	149582250	149582250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcgtgcctgtggaCcaagtagccaaagcaggtgg	17	9	0	0	rs560979440		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr5:149582250C>G	ENST00000230671.2	+	8	1442	c.1071C>G	c.(1069-1071)gaC>gaG	p.D357E	SLC6A7_ENST00000524041.1_Missense_Mutation_p.D357E	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	357					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGCCTGTGGACCAAGTAGCCA	0.602																																																	0								ENSG00000011083						52	40	44					5																	149582250		2203	4300	6503	SLC6A7	SO:0001583	missense	0			-	HGNC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1071C>G	5.37:g.149582250C>G	ENSP00000230671:p.Asp357Glu	Somatic	0	46	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	Q0VG81|Q52LU6	Missense_Mutation	SNP	30	0	0	25	44.44	20	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.D357E	ENST00000230671.2	37	c.1071	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789007	0.16258	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.73363	-0.74;-0.74	5.3	3.51	0.40186	.	0.245454	0.43260	D	0.000589	T	0.52773	0.1755	N	0.17723	0.515	0.35907	D	0.830829	B	0.06786	0.001	B	0.17722	0.019	T	0.46091	-0.9216	10	0.06891	T	0.86	.	7.7872	0.29099	0.137:0.74:0.0:0.123	.	357	Q99884	SC6A7_HUMAN	E	357	ENSP00000230671:D357E;ENSP00000428200:D357E	ENSP00000230671:D357E	D	+	3	2	SLC6A7	149562443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.847000	0.27696	0.607000	0.29982	0.561000	0.74099	GAC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.602	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	protein_coding	OTTHUMT00000252325.1	C	NM_014228	-		149582250	1	no_errors	ENST00000230671	ensembl	human	known	74_37	missense	SNP	1.000	G	G	149582250	C	G	149582250	3	3	159	1	0	0	0	0	1	0	0	0	14697	506	18	4	1101	4	SLC6A7	5	149582250	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	81761	149582250	31333010	35	11395											
SNCB	6620	genome.wustl.edu	37	chr5	176048272	176048272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaggggctcaatcagtggTtcttcagcagcttcctgggc	12	11	5	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr5:176048272T>C	ENST00000310112.3	-	6	565	c.315A>G	c.(313-315)gaA>gaG	p.E105E	SNCB_ENST00000393693.2_Silent_p.E105E|SNCB_ENST00000510387.1_Silent_p.E105E|SNCB_ENST00000506696.1_Silent_p.E105E	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	105					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAATCAGTGGTTCTTCAGCAG	0.602																																																	0								ENSG00000074317						59	57	58					5																	176048272		2203	4300	6503	SNCB	SO:0001819	synonymous_variant	0			-	HGNC	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.315A>G	5.37:g.176048272T>C		Somatic	0	66	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	Q6IAX7	Silent	SNP	31	0	0	53	7.02	4	pfam_Synuclein,prints_Synuclein,prints_Synuclein_beta	p.E105	ENST00000310112.3	37	c.315	CCDS4406.1	5																																																																																			-	pfam_Synuclein,prints_Synuclein_beta		0.602	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCB	protein_coding	OTTHUMT00000253152.2	T	NM_001001502	-		176048272	-1	no_errors	ENST00000310112	ensembl	human	known	74_37	silent	SNP	0.990	C	C	176048272	T	C	176048272	2	2	159	1	0	0	0	0	0	0	0	1	14850	1722	60	5		5	SNCB	5	176048272	Silent	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	26466022	176048272	4866988	36	11396											
E2F3	1871	genome.wustl.edu	37	chr6	20481454	20481455	+	Frame_Shift_Ins	INS	-	-	A													agctccaaaatctccctcagINSaaaaaacgcggtatgatacg							TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:20481454_20481455insA	ENST00000346618.3	+	3	589_590	c.523_524insA	c.(523-525)gaafs	p.E175fs	E2F3_ENST00000535432.1_Splice_Site	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	175					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ATCTCCCTCAGAAAAAACGCGG	0.475																																																	0								ENSG00000112242																																			E2F3	SO:0001589	frameshift_variant	0				HGNC	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.529dupA	6.37:g.20481460_20481460dupA	ENSP00000262904:p.Glu175fs	Somatic	0	30	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q15000|Q68DT0|Q9BZ44	Frame_Shift_Ins	INS	37	0	0	57	26.92	21	pfam_E2F_TDP	p.T177fs	ENST00000346618.3	37	c.523_524	CCDS4545.1	6																																																																																			-	NULL		0.475	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	protein_coding	OTTHUMT00000043828.1	-				20481455	1	no_errors	ENST00000346618	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	20481455	-	A	20481454	7	5	159	1	0	1	1	0	0	0	0	0	4870	943	33	0	533	0	E2F3	6	20481454	Frame_Shift_Ins	INS	-	TCGA-IS-A3K7-01A-11D-A21Q-09		20481454	150633613	37	11397											
PRSS16	10279	genome.wustl.edu	37	chr6	27222852	27222852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccgcactggctcccactGcttggacatggcacctgaga	10	14	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:27222852G>A	ENST00000230582.3	+	11	1433	c.1418G>A	c.(1417-1419)tGc>tAc	p.C473Y	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.C216Y	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	473					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCTCCCACTGCTTGGACATG	0.527																																					NSCLC(178;1118 2105 17078 23587 44429)												0								ENSG00000112812						100	111	107					6																	27222852		2203	4300	6503	PRSS16	SO:0001583	missense	0			-	HGNC	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1418G>A	6.37:g.27222852G>A	ENSP00000230582:p.Cys473Tyr	Somatic	0	85	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	66	17.50	O75416	Missense_Mutation	SNP	34	0	0	53	23.19	16	pfam_Peptidase_S28	p.C473Y	ENST00000230582.3	37	c.1418	CCDS4623.1	6	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874685	0.72180	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.20332	2.08;2.08	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	H	0.94183	3.505	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62421	-0.6858	10	0.51188	T	0.08	-37.3789	15.2575	0.73596	0.0:0.0:1.0:0.0	.	216;473	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	Y	216;473	ENSP00000404349:C216Y;ENSP00000230582:C473Y	ENSP00000230582:C473Y	C	+	2	0	PRSS16	27330831	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	4.412000	0.59787	2.546000	0.85860	0.552000	0.68991	TGC	-	pfam_Peptidase_S28		0.527	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	protein_coding	OTTHUMT00000043418.2	G		-		27222852	1	no_errors	ENST00000230582	ensembl	human	known	74_37	missense	SNP	0.994	A	A	27222852	G	A	27222852	3	1	159	1	0	0	0	0	1	0	0	0	12621	1319	46	2	1460	2	PRSS16	6	27222852	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	6741398	27222852	143892215	38	11398											
DPCR1	135656	genome.wustl.edu	37	chr6	30916955	30916955	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctcaaaaacaacatacaaGaccacaggaaccccagaaga	6	13	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:30916955G>C	ENST00000462446.1	+	2	742	c.714G>C	c.(712-714)aaG>aaC	p.K238N	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	238	Thr-rich.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAACATACAAGACCACAGGAA	0.403																																																	0								ENSG00000168631						87	83	84					6																	30916955		692	1591	2283	DPCR1	SO:0001583	missense	0			-	HGNC	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.714G>C	6.37:g.30916955G>C	ENSP00000417182:p.Lys238Asn	Somatic	0	21	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	43	0	0	51	28.17	20	NULL	p.K238N	ENST00000462446.1	37	c.714	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	g	9.879	1.201085	0.22121	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.41065	1.01	2.34	-3.84	0.04256	.	.	.	.	.	T	0.10852	0.0265	L	0.34521	1.04	0.09310	N	0.999998	P	0.52316	0.952	P	0.47528	0.549	T	0.05517	-1.0880	9	0.18276	T	0.48	.	1.0318	0.01540	0.3382:0.1538:0.3524:0.1556	.	238	E9PEI6	.	N	238	ENSP00000417182:K238N	ENSP00000411741:K238N	K	+	3	2	DPCR1	31024934	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-0.352000	0.07701	-1.161000	0.02800	0.424000	0.28305	AAG	-	NULL		0.403	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	protein_coding	OTTHUMT00000076173.3	G	NM_080870	-		30916955	1	no_errors	ENST00000462446	ensembl	human	novel	74_37	missense	SNP	0.000	C	C	30916955	G	C	30916955	3	2	159	1	0	0	0	0	1	0	0	0	4714	933	33	4	720	4	DPCR1	6	30916955	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	3694103	30916955	140198112	39	11399											
TCF19	6941	genome.wustl.edu	37	chr6	31130282	31130282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgtcctcggaagtacCcagtgagcgctcccatggct	13	14	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:31130282C>T	ENST00000376257.3	+	4	1580	c.826C>T	c.(826-828)Cca>Tca	p.P276S	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.P276S	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	276	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TCGGAAGTACCCAGTGAGCGC	0.612																																																	0								ENSG00000137310						79	87	84					6																	31130282		1276	2550	3826	TCF19	SO:0001583	missense	0			-	HGNC	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.826C>T	6.37:g.31130282C>T	ENSP00000365433:p.Pro276Ser	Somatic	0	48	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	32	0	0	41	19.61	10	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.P276S	ENST00000376257.3	37	c.826	CCDS43446.1	6	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961163	0.34565	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	T;T	0.23552	1.9;1.9	4.86	2.56	0.30785	Zinc finger, FYVE/PHD-type (1);	0.175642	0.50627	D	0.000115	T	0.09949	0.0244	L	0.54323	1.7	0.80722	D	1	B	0.20550	0.046	B	0.17979	0.02	T	0.05632	-1.0873	10	0.66056	D	0.02	-24.3972	5.2786	0.15663	0.1812:0.6796:0.0:0.1392	.	276	Q9Y242	TCF19_HUMAN	S	276	ENSP00000365433:P276S;ENSP00000365431:P276S	ENSP00000365431:P276S	P	+	1	0	TCF19	31238261	0.960000	0.32886	0.924000	0.36721	0.348000	0.29142	0.861000	0.27885	0.327000	0.23409	0.549000	0.68633	CCA	-	superfamily_Znf_FYVE_PHD		0.612	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	protein_coding	OTTHUMT00000076595.2	C	NM_007109	-		31130282	1	no_errors	ENST00000376255	ensembl	human	known	74_37	missense	SNP	0.927	T	T	31130282	C	T	31130282	3	4	159	1	0	0	0	0	1	0	0	0	15696	623	22	2	836	2	TCF19	6	31130282	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	213327	31130282	139984785	40	11400											
GLP1R	2740	genome.wustl.edu	37	chr6	39053689	39053689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcccatggaaggtccagcTggaatttcggaagagctggg	14	8	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:39053689T>A	ENST00000373256.4	+	13	1275	c.1232T>A	c.(1231-1233)cTg>cAg	p.L411Q		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	411					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AAGGTCCAGCTGGAATTTCGG	0.537																																																	0								ENSG00000112164						143	146	145					6																	39053689		2203	4300	6503	GLP1R	SO:0001583	missense	0			-	HGNC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1232T>A	6.37:g.39053689T>A	ENSP00000362353:p.Leu411Gln	Somatic	0	74	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	48	31.43	Q2M229|Q99669	Missense_Mutation	SNP	28	0	0	34	40.35	23	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.L411Q	ENST00000373256.4	37	c.1232	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805493	0.50315	.	.	ENSG00000112164	ENST00000373256	T	0.63096	-0.02	6.17	5.03	0.67393	.	0.460660	0.24010	N	0.042391	T	0.33118	0.0852	L	0.34521	1.04	0.24828	N	0.992541	B	0.17038	0.02	B	0.27262	0.078	T	0.11518	-1.0584	10	0.49607	T	0.09	.	7.8859	0.29651	0.0:0.198:0.0:0.802	.	411	P43220	GLP1R_HUMAN	Q	411	ENSP00000362353:L411Q	ENSP00000362353:L411Q	L	+	2	0	GLP1R	39161667	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.868000	0.48436	2.371000	0.80710	0.533000	0.62120	CTG	-	NULL		0.537	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	protein_coding	OTTHUMT00000040443.1	T		-		39053689	1	no_errors	ENST00000373256	ensembl	human	known	74_37	missense	SNP	0.998	A	A	39053689	T	A	39053689	3	1	159	1	0	0	0	0	1	0	0	0	6454	1580	55	5	1282	5	GLP1R	6	39053689	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	7923407	39053689	132061378	41	11401											
LCA5	167691	genome.wustl.edu	37	chr6	80198915	80198915	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctccatgcctgtcttGcttttgagattgcaagtcct	8	11	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:80198915G>A	ENST00000392959.1	-	8	1728	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	LCA5_ENST00000467898.3_Nonsense_Mutation_p.Q373*|LCA5_ENST00000369846.4_Nonsense_Mutation_p.Q373*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	373					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGCCTGTCTTGCTTTTGAGAT	0.358																																																	0								ENSG00000135338						121	112	115					6																	80198915		2202	4299	6501	LCA5	SO:0001587	stop_gained	0			-	HGNC		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1117C>T	6.37:g.80198915G>A	ENSP00000376686:p.Gln373*	Somatic	0	23	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	15	46.43	E1P542|Q9BWX7	Nonsense_Mutation	SNP	28	0	0	46	35.21	25	NULL	p.Q373*	ENST00000392959.1	37	c.1117	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495437	0.85069	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	.	.	.	5.24	0.308	0.15815	.	1.252340	0.05164	N	0.498341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-0.0254	6.6965	0.23201	0.0:0.2845:0.4095:0.306	.	.	.	.	X	373	.	ENSP00000358861:Q373X	Q	-	1	0	LCA5	80255634	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.391000	0.20784	0.156000	0.19299	-0.176000	0.13171	CAA	-	NULL		0.358	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	protein_coding	OTTHUMT00000259269.1	G	NM_181714	-		80198915	-1	no_errors	ENST00000369846	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	80198915	G	A	80198915	4	1	159	1	0	0	0	0	0	1	0	0	8658	1328	46	2	984	2	LCA5	6	80198915	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	41145226	80198915	90916152	42	11402											
ME1	4199	genome.wustl.edu	37	chr6	83933629	83933629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactggatcaaaaggactGccactggcaaaaattgcacg	11	9	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:83933629G>A	ENST00000369705.3	-	12	1415	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	ME1_ENST00000541327.1_Silent_p.G267G|ME1_ENST00000543031.1_Silent_p.G358G	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	433					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CAAAAGGACTGCCACTGGCAA	0.413																																																	0								ENSG00000065833						77	67	70					6																	83933629		2203	4300	6503	ME1	SO:0001819	synonymous_variant	0			-	HGNC	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1299C>T	6.37:g.83933629G>A		Somatic	0	20	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	34	0	0	63	0.00	0	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.G433	ENST00000369705.3	37	c.1299	CCDS34492.1	6																																																																																			-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd		0.413	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME1	protein_coding	OTTHUMT00000041350.1	G		-		83933629	-1	no_errors	ENST00000369705	ensembl	human	known	74_37	silent	SNP	1.000	A	A	83933629	G	A	83933629	2	1	159	1	0	0	0	0	0	0	0	1	9419	1306	46	2		2	ME1	6	83933629	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	3734714	83933629	87181438	43	11403											
SPACA1	81833	genome.wustl.edu	37	chr6	88768470	88768470	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaagtcttgaaagtgttaGattggcatgtattcacacat	9	5	2	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:88768470G>A	ENST00000237201.1	+	4	521	c.404G>A	c.(403-405)aGa>aAa	p.R135K		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	135					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)		GAAAGTGTTAGATTGGCATGT	0.333																																																	0								ENSG00000118434						96	99	98					6																	88768470		2203	4300	6503	SPACA1	SO:0001583	missense	0			-	HGNC	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.404G>A	6.37:g.88768470G>A	ENSP00000237201:p.Arg135Lys	Somatic	0	13	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18		Missense_Mutation	SNP	35	0	0	43	47.56	39	NULL	p.R135K	ENST00000237201.1	37	c.404	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280840	0.23392	.	.	ENSG00000118434	ENST00000237201	T	0.20332	2.08	5.86	0.0675	0.14366	.	0.512237	0.21166	N	0.079076	T	0.04363	0.0120	L	0.39898	1.24	0.18873	N	0.999985	B	0.06786	0.001	B	0.10450	0.005	T	0.41378	-0.9512	10	0.23302	T	0.38	-4.253	5.0982	0.14745	0.5822:0.0:0.2586:0.1592	.	135	Q9HBV2	SACA1_HUMAN	K	135	ENSP00000237201:R135K	ENSP00000237201:R135K	R	+	2	0	SPACA1	88825189	0.419000	0.25449	0.194000	0.23346	0.941000	0.58515	0.587000	0.23909	0.066000	0.16515	0.650000	0.86243	AGA	-	NULL		0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	protein_coding	OTTHUMT00000041459.1	G		-		88768470	1	no_errors	ENST00000237201	ensembl	human	known	74_37	missense	SNP	0.059	A	A	88768470	G	A	88768470	3	1	159	1	0	0	0	0	1	0	0	0	14980	942	33	2	418	2	SPACA1	6	88768470	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	4834841	88768470	82346597	44	11404											
SPACA1	81833	genome.wustl.edu	37	chr6	88769229	88769229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacgcaaggaaagtcaccCcttggctttcgagtgtgaca	11	10	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:88769229C>T	ENST00000237201.1	+	5	650	c.533C>T	c.(532-534)cCc>cTc	p.P178L	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	178					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)		GAAAGTCACCCCTTGGCTTTC	0.348																																																	0								ENSG00000118434						92	90	91					6																	88769229		2203	4300	6503	SPACA1	SO:0001583	missense	0			-	HGNC	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.533C>T	6.37:g.88769229C>T	ENSP00000237201:p.Pro178Leu	Somatic	0	15	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41		Missense_Mutation	SNP	42	0	0	68	9.21	7	NULL	p.P178L	ENST00000237201.1	37	c.533	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525755	0.44969	.	.	ENSG00000118434	ENST00000237201	T	0.30981	1.51	5.5	5.5	0.81552	.	0.094770	0.47093	D	0.000253	T	0.47691	0.1459	M	0.67953	2.075	0.36914	D	0.891034	D	0.89917	1.0	D	0.79108	0.992	T	0.51748	-0.8666	10	0.87932	D	0	-10.3433	17.1731	0.86834	0.0:1.0:0.0:0.0	.	178	Q9HBV2	SACA1_HUMAN	L	178	ENSP00000237201:P178L	ENSP00000237201:P178L	P	+	2	0	SPACA1	88825948	0.494000	0.26043	0.105000	0.21289	0.108000	0.19459	3.173000	0.50839	2.571000	0.86741	0.650000	0.86243	CCC	-	NULL		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	protein_coding	OTTHUMT00000041459.1	C		-		88769229	1	no_errors	ENST00000237201	ensembl	human	known	74_37	missense	SNP	0.470	T	T	88769229	C	T	88769229	3	4	159	1	0	0	0	0	1	0	0	0	14980	623	22	2	551	2	SPACA1	6	88769229	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	759	88769229	82345838	45	11405											
AKAP12	9590	genome.wustl.edu	37	chr6	151671939	151671939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtaaagaagaatcctggGtctcaatcaagaagtttatt	9	7	2	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr6:151671939G>A	ENST00000253332.1	+	3	2602	c.2413G>A	c.(2413-2415)Gtc>Atc	p.V805I	AKAP12_ENST00000402676.2_Missense_Mutation_p.V805I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V700I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V707I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	805	AKAP 3.				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)		AGAATCCTGGGTCTCAATCAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)												0								ENSG00000131016						48	56	53					6																	151671939		2203	4300	6503	AKAP12	SO:0001583	missense	0			-	HGNC	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.2413G>A	6.37:g.151671939G>A	ENSP00000253332:p.Val805Ile	Somatic	0	13	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	20.00	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	33	0	0	68	9.33	7	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V805I	ENST00000253332.1	37	c.2413	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097175	0.56075	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.63	5.63	0.86233	Protein kinase A anchoring, WSK motif (1);	0.000000	0.39615	N	0.001305	T	0.52256	0.1723	L	0.36672	1.1	0.44771	D	0.997777	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.71870	0.957;0.957;0.975	T	0.43734	-0.9373	10	0.36615	T	0.2	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	700;707;805	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	805;805;707;700	ENSP00000384537:V805I;ENSP00000253332:V805I;ENSP00000346702:V707I;ENSP00000352794:V700I	ENSP00000253332:V805I	V	+	1	0	AKAP12	151713632	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.074000	0.76791	2.652000	0.90054	0.655000	0.94253	GTC	-	pfam_Pkinase-A_anch_WSK-motif		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	protein_coding	OTTHUMT00000042712.1	G		-		151671939	1	no_errors	ENST00000253332	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151671939	G	A	151671939	3	1	159	1	0	0	0	0	1	0	0	0	448	1261	44	2	2452	2	AKAP12	6	151671939	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	62902710	151671939	19443128	46	11406											
C7orf70	84792	genome.wustl.edu	37	chr7	6370316	6370316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccggcactttttgatggCgtggcagtcgtgacacccga	12	11	0	2	rs576104923		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr7:6370316C>T	ENST00000313324.4	-	2	937	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	157						nucleus (GO:0005634)											TTTTTGATGGCGTGGCAGTCG	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		16538	0		0	False		,,,				2504	0																0								ENSG00000178397						46	54	51					7																	6370316		2203	4300	6503	FAM220A	SO:0001583	missense	0			-	HGNC	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"STAT3-interacting protein as a repressor"		"chromosome 7 open reading frame 70"	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.470G>A	7.37:g.6370316C>T	ENSP00000317289:p.Arg157His	Somatic	0	74	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	30	45.45	Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	28	0	0	38	38.71	24	NULL	p.R157H	ENST00000313324.4	37	c.470	CCDS34599.1	7	.	.	.	.	.	.	.	.	.	.	C	6.770	0.511014	0.12883	.	.	ENSG00000178397	ENST00000313324	T	0.08102	3.13	5.42	2.19	0.27852	.	1.224330	0.06033	U	0.653410	T	0.03053	0.0090	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44314	-0.9336	10	0.14252	T	0.57	3.0244	4.3237	0.11029	0.3067:0.488:0.0:0.2053	.	157	Q7Z4H9	SIPAR_HUMAN	H	157	ENSP00000317289:R157H	ENSP00000317289:R157H	R	-	2	0	C7orf70	6336841	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.209000	0.09358	0.648000	0.30732	-0.137000	0.14449	CGC	-	NULL		0.622	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	protein_coding	OTTHUMT00000242853.2	C	NM_001037163	-		6370316	-1	no_errors	ENST00000313324	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6370316	C	T	6370316	3	4	159	1	0	0	0	0	1	0	0	0	2417	768	27	1	313	1	C7orf70	7	6370316	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		6370316	152768347	47	11407											
DDX56	54606	genome.wustl.edu	37	chr7	44613318	44613318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcctggatcagcgtaggtCgcgaccagcccagatcggtg	13	13	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr7:44613318C>T	ENST00000258772.5	-	2	192	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R29Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	29					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CAGCGTAGGTCGCGACCAGCC	0.672																																																	0								ENSG00000136271						52	60	57					7																	44613318		2203	4300	6503	DDX56	SO:0001583	missense	0			-	HGNC	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.86G>A	7.37:g.44613318C>T	ENSP00000258772:p.Arg29Gln	Somatic	0	55	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	19	0	0	36	35.71	20	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R29Q	ENST00000258772.5	37	c.86	CCDS5492.1	7	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377373	0.61735	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.41758	0.99;0.99	5.34	5.34	0.76211	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);	0.132350	0.50627	D	0.000104	T	0.27027	0.0662	N	0.21194	0.64	0.40514	D	0.98076	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.11012	-1.0605	10	0.21014	T	0.42	-6.9875	10.1025	0.42513	0.0:0.9085:0.0:0.0915	.	29;29	C9JV95;Q9NY93	.;DDX56_HUMAN	Q	29	ENSP00000258772:R29Q;ENSP00000393488:R29Q	ENSP00000258772:R29Q	R	-	2	0	DDX56	44579843	0.978000	0.34361	1.000000	0.80357	0.995000	0.86356	2.305000	0.43664	2.514000	0.84764	0.650000	0.86243	CGA	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.672	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	protein_coding	OTTHUMT00000251291.1	C	NM_019082	-		44613318	-1	no_errors	ENST00000258772	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44613318	C	T	44613318	3	4	159	1	0	0	0	0	1	0	0	0	4376	884	31	1	1609	1	DDX56	7	44613318	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	38243002	44613318	114525345	48	11408											
CLDN4	1364	genome.wustl.edu	37	chr7	73245579	73245579	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcgcgctggccgtcctGggctggctggccgtcatgct	16	14	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr7:73245579G>C	ENST00000435050.1	+	2	2728	c.48G>C	c.(46-48)ctG>ctC	p.L16L	CLDN4_ENST00000340958.2_Silent_p.L16L|CLDN4_ENST00000431918.1_Silent_p.L16L			O14493	CLD4_HUMAN	claudin 4	16	Interaction with EPHA2.				calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGGCCGTCCTGGGCTGGCTGG	0.652																																																	0								ENSG00000189143						52	48	50					7																	73245579		2203	4299	6502	CLDN4	SO:0001819	synonymous_variant	0			-	HGNC	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"Claudins"	2046	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 1", "Williams-Beuren syndrome chromosomal region 8 protein"	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.48G>C	7.37:g.73245579G>C		Somatic	0	138	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	109	17.42		Silent	SNP	32	0	0	48	29.41	20	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4	p.L16	ENST00000435050.1	37	c.48	CCDS5560.1	7																																																																																			-	pfam_PMP22/EMP/MP20/Claudin		0.652	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN4	protein_coding	OTTHUMT00000348030.1	G	NM_001305	-		73245579	1	no_errors	ENST00000340958	ensembl	human	known	74_37	silent	SNP	1.000	C	C	73245579	G	C	73245579	2	2	159	1	0	0	0	0	0	0	0	1	3489	1335	47	4		4	CLDN4	7	73245579	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	28632261	73245579	85893084	49	11409											
DLX6	1750	genome.wustl.edu	37	chr7	96637007	96637007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttcaatggaaaagggaAaaagattcggaagcctcgga	13	6	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr7:96637007A>G	ENST00000518156.2	+	2	924	c.494A>G	c.(493-495)aAa>aGa	p.K165R	DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.K37R|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.K137R|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	47					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAAAAGGGAAAAAGATTCGG	0.478																																																	0								ENSG00000006377						43	43	43					7																	96637007		1862	4094	5956	DLX6	SO:0001583	missense	0			-	HGNC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.494A>G	7.37:g.96637007A>G	ENSP00000428480:p.Lys165Arg	Somatic	0	28	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	39	0	0	42	36.36	24	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.K165R	ENST00000518156.2	37	c.494	CCDS47647.2	7	.	.	.	.	.	.	.	.	.	.	A	26.7	4.764260	0.89932	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.95377	-3.69;-3.69;-3.69	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.80616	2.505	0.80722	D	1	D	0.60160	0.987	D	0.66351	0.943	D	0.97404	0.9998	10	0.45353	T	0.12	-11.1491	15.8147	0.78592	1.0:0.0:0.0:0.0	.	137	P56179-2	.	R	165;137;37	ENSP00000428480:K165R;ENSP00000007660:K137R;ENSP00000451635:K37R	ENSP00000007660:K137R	K	+	2	0	DLX6	96474943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.277000	0.95755	2.132000	0.65825	0.459000	0.35465	AAA	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom		0.478	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	protein_coding	OTTHUMT00000334373.4	A	NM_005222	-		96637007	1	no_errors	ENST00000518156	ensembl	human	known	74_37	missense	SNP	1.000	G	G	96637007	A	G	96637007	3	3	159	1	0	0	0	0	1	0	0	0	4577	14	1	5	500	5	DLX6	7	96637007	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	23391428	96637007	62501656	50	11410											
NOS3	4846	genome.wustl.edu	37	chr7	150696416	150696416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcactgagatcggcacgagGaacctgtgtgaccctcaccg	12	13	1	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr7:150696416G>A	ENST00000484524.1	+	8	1095	c.1095G>A	c.(1093-1095)agG>agA	p.R365R	NOS3_ENST00000297494.3_Silent_p.R365R|NOS3_ENST00000467517.1_Silent_p.R365R|NOS3_ENST00000461406.1_Silent_p.R159R	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGCACGAGGAACCTGTGTG	0.627																																																	0								ENSG00000164867						91	90	91					7																	150696416		2202	4292	6494	NOS3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1095G>A	7.37:g.150696416G>A		Somatic	0	21	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	Q495E5	Silent	SNP	26	0	0	20	37.50	12	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R365	ENST00000484524.1	37	c.1095	CCDS55182.1	7																																																																																			-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.627	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000351550.1	G	NM_000603	-		150696416	1	no_errors	ENST00000297494	ensembl	human	known	74_37	silent	SNP	0.997	A	A	150696416	G	A	150696416	2	1	159	1	0	0	0	0	0	0	0	1	10546	1165	41	2		2	NOS3	7	150696416	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	54059409	150696416	8442247	51	11411											
PHYHIP	9796	genome.wustl.edu	37	chr8	22079120	22079120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtcgcggcagaagcggtCccccagggagcctttgggcg	18	13	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr8:22079120C>T	ENST00000321613.3	-	6	1195	c.739G>A	c.(739-741)Gac>Aac	p.D247N	PHYHIP_ENST00000454243.2_Missense_Mutation_p.D247N	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	247										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CAGAAGCGGTCCCCCAGGGAG	0.622																																																	0								ENSG00000168490						26	37	33					8																	22079120		2098	4193	6291	PHYHIP	SO:0001583	missense	0			-	HGNC	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.739G>A	8.37:g.22079120C>T	ENSP00000320017:p.Asp247Asn	Somatic	0	46	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	D3DSR1|Q8N4I9	Missense_Mutation	SNP	26	0	0	29	9.38	3	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D247N	ENST00000321613.3	37	c.739	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240367	0.79912	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.52526	0.66;0.66	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.81802	2.56	0.51767	D	0.999939	P	0.35821	0.523	B	0.40702	0.338	T	0.61613	-0.7027	10	0.72032	D	0.01	-48.0826	12.9328	0.58296	0.0:0.9204:0.0:0.0796	.	247	Q92561	PHYIP_HUMAN	N	247;247;154;199	ENSP00000320017:D247N;ENSP00000415491:D247N	ENSP00000320017:D247N	D	-	1	0	PHYHIP	22135065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.813000	0.86123	1.311000	0.45024	0.555000	0.69702	GAC	-	NULL		0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	protein_coding	OTTHUMT00000375388.1	C	NM_014759	-		22079120	-1	no_errors	ENST00000454243	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22079120	C	T	22079120	3	4	159	1	0	0	0	0	1	0	0	0	11868	855	30	2	257	2	PHYHIP	8	22079120	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		22079120	124284902	52	11412											
SULF1	23213	genome.wustl.edu	37	chr8	70488399	70488399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcaggccatgcatgagCctcggacttttgctgtatat	12	10	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr8:70488399C>T	ENST00000260128.4	+	6	1084	c.367C>T	c.(367-369)Cct>Tct	p.P123S	SULF1_ENST00000458141.2_Missense_Mutation_p.P123S|SULF1_ENST00000419716.3_Missense_Mutation_p.P123S|SULF1_ENST00000402687.4_Missense_Mutation_p.P123S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	123					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)			CATGCATGAGCCTCGGACTTT	0.493																																																	0								ENSG00000137573						139	123	128					8																	70488399		2203	4300	6503	SULF1	SO:0001583	missense	0			-	HGNC	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.367C>T	8.37:g.70488399C>T	ENSP00000260128:p.Pro123Ser	Somatic	0	89	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	23	0	0	21	47.50	19	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.P123S	ENST00000260128.4	37	c.367	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824892	0.32237	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716;ENST00000525999	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	5.23	5.23	0.72850	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	L	0.41961	1.31	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	D	0.94506	0.7714	10	0.12430	T	0.62	.	18.7899	0.91969	0.0:1.0:0.0:0.0	.	123	Q8IWU6	SULF1_HUMAN	S	123	ENSP00000403040:P123S;ENSP00000260128:P123S;ENSP00000385704:P123S;ENSP00000390315:P123S;ENSP00000431753:P123S	ENSP00000260128:P123S	P	+	1	0	SULF1	70650953	1.000000	0.71417	0.879000	0.34478	0.779000	0.44077	7.788000	0.85771	2.446000	0.82766	0.650000	0.86243	CCT	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.493	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	C	NM_015170	-		70488399	1	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70488399	C	T	70488399	3	4	159	1	0	0	0	0	1	0	0	0	15377	739	26	2	373	2	SULF1	8	70488399	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	48409279	70488399	75875623	53	11413											
NTRK2	4915	genome.wustl.edu	37	chr9	87563475	87563475	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcgtcaagttctatggCgtctgcgtggagggcgaccc	13	12	3	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr9:87563475C>A	ENST00000323115.4	+	14	2168	c.1815C>A	c.(1813-1815)ggC>ggA	p.G605G	NTRK2_ENST00000376213.1_Silent_p.G605G|NTRK2_ENST00000277120.3_Silent_p.G621G|NTRK2_ENST00000376214.1_Silent_p.G621G			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AGTTCTATGGCGTCTGCGTGG	0.577										TSP Lung(25;0.17)																																							0								ENSG00000148053						112	81	92					9																	87563475		2203	4300	6503	NTRK2	SO:0001819	synonymous_variant	0			-	HGNC	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1815C>A	9.37:g.87563475C>A		Somatic	0	73	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	32.31	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	35	0	0	26	50.94	27	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.G621	ENST00000323115.4	37	c.1863	CCDS35050.1	9																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.577	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	C		-		87563475	1	no_errors	ENST00000277120	ensembl	human	known	74_37	silent	SNP	0.012	A	A	87563475	C	A	87563475	2	1	159	1	0	0	0	0	0	0	0	1	10709	755	27	3		3	NTRK2	9	87563475	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		87563475	53649956	54	11414											
TUBB2C	10383	genome.wustl.edu	37	chr9	140137556	140137556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccagcagatgtttgatGccaagaacatgatggctgcc	10	11	1	4			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr9:140137556G>A	ENST00000340384.4	+	4	1034	c.886G>A	c.(886-888)Gcc>Acc	p.A296T		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	296					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	GATGTTTGATGCCAAGAACAT	0.647																																																	0								ENSG00000188229						42	44	44					9																	140137556		2202	4291	6493	TUBB4B	SO:0001583	missense	0			-	HGNC	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.886G>A	9.37:g.140137556G>A	ENSP00000341289:p.Ala296Thr	Somatic	0	136	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	89	8.25	A2BFA2|P05217	Missense_Mutation	SNP	31	0	0	32	27.27	12	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.A296T	ENST00000340384.4	37	c.886	CCDS7039.1	9	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275588	0.59649	.	.	ENSG00000188229	ENST00000340384	T	0.80994	-1.44	5.57	5.57	0.84162	.	0.225857	0.37857	N	0.001916	D	0.84479	0.5481	M	0.72353	2.195	0.80722	D	1	B	0.25206	0.12	B	0.37833	0.259	T	0.83312	-0.0022	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	296	P68371	TBB4B_HUMAN	T	296	ENSP00000341289:A296T	ENSP00000341289:A296T	A	+	1	0	TUBB2C	139257377	1.000000	0.71417	0.972000	0.41901	0.962000	0.63368	5.377000	0.66184	2.625000	0.88918	0.655000	0.94253	GCC	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin		0.647	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4B	protein_coding	OTTHUMT00000254715.1	G	NM_006088	-		140137556	1	no_errors	ENST00000340384	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140137556	G	A	140137556	3	1	159	1	0	0	0	0	1	0	0	0	16763	1319	46	2	900	2	TUBB2C	9	140137556	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	52574081	140137556	1075875	55	11415											
ENTPD8	377841	genome.wustl.edu	37	chr9	140330683	140330683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagtgtggtctggtAgccgctgaggtagcacgggt	18	9	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr9:140330683A>G	ENST00000472938.1	-	6	848	c.832T>C	c.(832-834)Tac>Cac	p.Y278H	ENTPD8_ENST00000371506.2_Missense_Mutation_p.Y278H|ENTPD8_ENST00000344119.2_Missense_Mutation_p.Y278H			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	278					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTGGTCTGGTAGCCGCTGAGG	0.701																																																	0								ENSG00000188833						27	29	28					9																	140330683		2196	4294	6490	ENTPD8	SO:0001583	missense	0			-	HGNC	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.832T>C	9.37:g.140330683A>G	ENSP00000420531:p.Tyr278His	Somatic	0	103	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	60	36.17	A2BG17|Q6UVZ0	Missense_Mutation	SNP	24	0	0	23	42.50	17	pfam_GDA1_CD39_NTPase	p.Y278H	ENST00000472938.1	37	c.832	CCDS43913.1	9	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660639	0.67586	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12039	2.72;2.72;2.72	4.3	4.3	0.51218	.	0.171789	0.39475	N	0.001347	T	0.41305	0.1153	M	0.86953	2.85	0.48696	D	0.999693	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.48175	-0.9058	10	0.87932	D	0	-6.788	12.4073	0.55447	1.0:0.0:0.0:0.0	.	278;278	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	H	278	ENSP00000344089:Y278H;ENSP00000360561:Y278H;ENSP00000420531:Y278H	ENSP00000344089:Y278H	Y	-	1	0	ENTPD8	139450504	1.000000	0.71417	0.976000	0.42696	0.181000	0.23173	8.313000	0.89978	1.810000	0.52873	0.379000	0.24179	TAC	-	pfam_GDA1_CD39_NTPase		0.701	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	protein_coding	OTTHUMT00000355991.1	A	NM_198585	-		140330683	-1	no_errors	ENST00000371506	ensembl	human	known	74_37	missense	SNP	0.999	G	G	140330683	A	G	140330683	3	3	159	1	0	0	0	0	1	0	0	0	5147	420	15	5	671	5	ENTPD8	9	140330683	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	193127	140330683	882748	56	11416											
MMRN2	79812	genome.wustl.edu	37	chr10	88704031	88704031	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactcaccgtgccctgtttGatttgcttccatcactgcag	7	15	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr10:88704031G>A	ENST00000372027.5	-	5	964	c.643C>T	c.(643-645)Caa>Taa	p.Q215*	MMRN2_ENST00000488950.1_Intron	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	215					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGCCCTGTTTGATTTGCTTCC	0.622																																																	0								ENSG00000173269						158	147	151					10																	88704031		2203	4300	6503	MMRN2	SO:0001587	stop_gained	0			-	HGNC	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.643C>T	10.37:g.88704031G>A	ENSP00000361097:p.Gln215*	Somatic	0	58	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	Q504V7|Q6P2N2	Nonsense_Mutation	SNP	29	0	0	46	2.13	1	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.Q215*	ENST00000372027.5	37	c.643	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635592	0.67130	.	.	ENSG00000173269	ENST00000372027	.	.	.	5.23	2.24	0.28232	.	1.277080	0.05434	N	0.546530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.5574	14.1986	0.65686	0.0:0.4712:0.5288:0.0	.	.	.	.	X	215	.	ENSP00000361097:Q215X	Q	-	1	0	MMRN2	88694011	0.002000	0.14202	0.000000	0.03702	0.035000	0.12851	0.998000	0.29744	0.175000	0.19841	-0.311000	0.09066	CAA	-	NULL		0.622	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	protein_coding	OTTHUMT00000049179.2	G	NM_024756	-		88704031	-1	no_errors	ENST00000372027	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	88704031	G	A	88704031	4	1	159	1	0	0	0	0	0	1	0	0	9673	1299	45	2	2218	2	MMRN2	10	88704031	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		88704031	46830716	57	11417											
NHLRC2	374354	genome.wustl.edu	37	chr10	115661629	115661629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatggagcagtgaagcaCctcgtaggaggagaaagaga	15	5	0	4	rs539942915		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr10:115661629C>T	ENST00000369301.3	+	7	1556	c.1344C>T	c.(1342-1344)caC>caT	p.H448H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	448										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)		CAGTGAAGCACCTCGTAGGAG	0.478																																																	0								ENSG00000196865						123	125	124					10																	115661629		2203	4300	6503	NHLRC2	SO:0001819	synonymous_variant	0			-	HGNC	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.1344C>T	10.37:g.115661629C>T		Somatic	0	35	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q8N1H1|Q8N5A6	Silent	SNP	35	0	0	35	23.91	11	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.H448	ENST00000369301.3	37	c.1344	CCDS7585.1	10																																																																																			-	NULL		0.478	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	protein_coding	OTTHUMT00000050446.1	C	NM_198514	-		115661629	1	no_errors	ENST00000369301	ensembl	human	known	74_37	silent	SNP	1.000	T	T	115661629	C	T	115661629	2	4	159	1	0	0	0	0	0	0	0	1	10408	506	18	2		2	NHLRC2	10	115661629	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	26957598	115661629	19873118	58	11418											
MKI67	4288	genome.wustl.edu	37	chr10	129910594	129910594	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctacggcgttgatcactgGcaactggagttttcctagga	11	10	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr10:129910594G>C	ENST00000368654.3	-	9	2147	c.1772C>G	c.(1771-1773)gCc>gGc	p.A591G	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.A231G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	591					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGATCACTGGCAACTGGAGT	0.502																																																	0								ENSG00000148773						127	127	127					10																	129910594		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1772C>G	10.37:g.129910594G>C	ENSP00000357643:p.Ala591Gly	Somatic	0	67	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	Q5VWH2	Missense_Mutation	SNP	44	0	0	18	55.00	22	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A591G	ENST00000368654.3	37	c.1772	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610152	0.28712	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01397	4.97;4.94	3.58	2.67	0.31697	.	1.286870	0.05129	N	0.492180	T	0.02494	0.0076	N	0.25485	0.75	0.09310	N	1	D;D;P	0.56968	0.969;0.978;0.948	P;P;B	0.50659	0.634;0.647;0.431	T	0.50874	-0.8776	10	0.62326	D	0.03	.	6.8615	0.24069	0.1301:0.0:0.8699:0.0	.	591;231;591	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	591;231;591;166	ENSP00000357643:A591G;ENSP00000357642:A231G	ENSP00000357641:A166G	A	-	2	0	MKI67	129800584	0.025000	0.19082	0.001000	0.08648	0.075000	0.17131	3.337000	0.52120	0.832000	0.34804	0.563000	0.77884	GCC	-	NULL		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129910594	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.001	C	C	129910594	G	C	129910594	3	2	159	1	0	0	0	0	1	0	0	0	9600	1203	42	4	8026	4	MKI67	10	129910594	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	14248965	129910594	5624153	59	11419											
OR51F2	119694	genome.wustl.edu	37	chr11	4842933	4842933	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtttgaagcccgagaaatCaacctaaatgcctgcattgc	9	10	1	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:4842933C>T	ENST00000322110.5	+	1	383	c.318C>T	c.(316-318)atC>atT	p.I106I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGAGAAATCAACCTAAATG	0.468																																																	0								ENSG00000176925						161	147	152					11																	4842933		2201	4298	6499	OR51F2	SO:0001819	synonymous_variant	0			-	HGNC	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.318C>T	11.37:g.4842933C>T		Somatic	0	94	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70	Q6IFI1	Silent	SNP	37	0	0	48	11.11	6	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I106	ENST00000322110.5	37	c.318	CCDS31361.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	protein_coding	OTTHUMT00000142181.1	C	NM_001004753	-		4842933	1	no_errors	ENST00000322110	ensembl	human	known	74_37	silent	SNP	0.173	T	T	4842933	C	T	4842933	2	4	159	1	0	0	0	0	0	0	0	1	11099	816	29	2		2	OR51F2	11	4842933	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		4842933	130163583	60	11420											
OR4A47	403253	genome.wustl.edu	37	chr11	48510756	48510756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttatcatgagacaatggGtgtgtgttgtgctgctggta	15	4	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:48510756G>A	ENST00000446524.1	+	1	488	c.412G>A	c.(412-414)Gtg>Atg	p.V138M		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GAGACAATGGGTGTGTGTTGT	0.473																																																	0								ENSG00000237388						113	97	102					11																	48510756		2201	4298	6499	OR4A47	SO:0001583	missense	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.412G>A	11.37:g.48510756G>A	ENSP00000412752:p.Val138Met	Somatic	0	24	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP	43	0	0	61	3.17	2	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V138M	ENST00000446524.1	37	c.412	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	9.989	1.230267	0.22542	.	.	ENSG00000237388	ENST00000446524	T	0.00216	8.53	4.84	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.288709	0.24516	N	0.037842	T	0.00440	0.0014	M	0.65498	2.005	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.48875	-0.8996	10	0.54805	T	0.06	.	11.0743	0.48021	0.0926:0.0:0.9074:0.0	.	138	Q6IF82	O4A47_HUMAN	M	138	ENSP00000412752:V138M	ENSP00000412752:V138M	V	+	1	0	OR4A47	48467332	0.000000	0.05858	0.252000	0.24328	0.006000	0.05464	-0.600000	0.05693	1.017000	0.39495	0.511000	0.50034	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	G	NM_001005512	-		48510756	1	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	SNP	0.011	A	A	48510756	G	A	48510756	3	1	159	1	0	0	0	0	1	0	0	0	11044	1261	44	2	414	2	OR4A47	11	48510756	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	43667823	48510756	86495760	61	11421											
OR4C15	81309	genome.wustl.edu	37	chr11	55321796	55321796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaatttatgttctcaatgaCaacagaagcactcaataatt	4	8	2	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:55321796C>A	ENST00000314644.2	+	1	14	c.14C>A	c.(13-15)aCa>aAa	p.T5K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTCTCAATGACAACAGAAGCA	0.308										HNSCC(20;0.049)																																							0								ENSG00000181939						100	100	100					11																	55321796		2201	4296	6497	OR4C15	SO:0001583	missense	0			-	HGNC	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.14C>A	11.37:g.55321796C>A	ENSP00000324958:p.Thr5Lys	Somatic	0	37	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	Q6IFE2	Missense_Mutation	SNP	30	0	0	57	34.48	30	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T5K	ENST00000314644.2	37	c.14	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	7.884	0.730898	0.15507	.	.	ENSG00000181939	ENST00000314644	T	0.00005	9.79	4.3	-8.6	0.00889	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19386	-1.0307	6	0.87932	D	0	.	1.8663	0.03199	0.3073:0.1302:0.1018:0.4607	.	.	.	.	K	5	ENSP00000324958:T5K	ENSP00000324958:T5K	T	+	2	0	OR4C15	55078372	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	-5.169000	0.00145	-2.103000	0.00844	0.385000	0.25706	ACA	-	NULL		0.308	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	C	NM_001001920	-		55321796	1	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55321796	C	A	55321796	3	1	159	1	0	0	0	0	1	0	0	0	11050	478	17	3	16	3	OR4C15	11	55321796	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	6811040	55321796	79684720	62	11422											
DAGLA	747	genome.wustl.edu	37	chr11	61504767	61504767	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccgaccctcaagtgcttTgcctactccccgccaggggg	10	16	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:61504767T>G	ENST00000257215.5	+	14	1601	c.1485T>G	c.(1483-1485)ttT>ttG	p.F495L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	495					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)		TCAAGTGCTTTGCCTACTCCC	0.642																																																	0								ENSG00000134780						151	164	160					11																	61504767		2202	4299	6501	DAGLA	SO:0001583	missense	0			-	HGNC	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.1485T>G	11.37:g.61504767T>G	ENSP00000257215:p.Phe495Leu	Somatic	0	83	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	64	32.63	A7E233|Q6WQJ0	Missense_Mutation	SNP	34	0	0	33	36.54	19	pfam_Lipase_3	p.F495L	ENST00000257215.5	37	c.1485	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	t	14.99	2.699419	0.48307	.	.	ENSG00000134780	ENST00000257215	T	0.25579	1.79	3.9	-2.37	0.06643	.	0.064498	0.64402	D	0.000006	T	0.20088	0.0483	L	0.49256	1.55	0.42084	D	0.99126	B	0.23650	0.089	B	0.25759	0.063	T	0.02751	-1.1115	10	0.54805	T	0.06	-13.1437	8.8518	0.35203	0.0:0.4071:0.0:0.5929	.	495	Q9Y4D2	DGLA_HUMAN	L	495	ENSP00000257215:F495L	ENSP00000257215:F495L	F	+	3	2	DAGLA	61261343	0.989000	0.36119	0.989000	0.46669	0.706000	0.40770	0.219000	0.17641	-0.733000	0.04850	0.255000	0.18592	TTT	-	pfam_Lipase_3		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	T	NM_006133	-		61504767	1	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	SNP	0.999	G	G	61504767	T	G	61504767	3	3	159	1	0	0	0	0	1	0	0	0	4228	1809	63	5	1535	5	DAGLA	11	61504767	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	6182971	61504767	73501749	63	11423											
EEF1G	1937	genome.wustl.edu	37	chr11	62339327	62339327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatagtaggcaatggcgTtgctctcaaacacacagaat	8	10	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:62339327T>C	ENST00000329251.4	-	3	348	c.218A>G	c.(217-219)aAc>aGc	p.N73S	EEF1G_ENST00000378019.3_Missense_Mutation_p.N123S|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	73	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCAATGGCGTTGCTCTCAAA	0.458																																																	0								ENSG00000254772						48	46	47					11																	62339327		1942	4128	6070	EEF1G	SO:0001583	missense	0			-	HGNC	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.218A>G	11.37:g.62339327T>C	ENSP00000331901:p.Asn73Ser	Somatic	0	69	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	49	0	0	50	32.43	24	pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.N123S	ENST00000329251.4	37	c.368	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759206	0.69763	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.07114	3.22;3.22	4.85	4.85	0.62838	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.056659	0.64402	D	0.000002	T	0.12944	0.0314	M	0.75150	2.29	0.48901	D	0.999723	B;B	0.31459	0.324;0.023	B;B	0.36464	0.225;0.11	T	0.02526	-1.1146	10	0.42905	T	0.14	.	7.4763	0.27378	0.0:0.0976:0.0:0.9024	.	123;73	B4DTG2;P26641	.;EF1G_HUMAN	S	73;123	ENSP00000331901:N73S;ENSP00000367258:N123S	ENSP00000331901:N73S	N	-	2	0	EEF1G	62095903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	1.944000	0.56390	0.460000	0.39030	AAC	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.458	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	protein_coding	OTTHUMT00000395047.1	T	NM_001404	-		62339327	-1	no_errors	ENST00000378019	ensembl	human	known	74_37	missense	SNP	1.000	C	C	62339327	T	C	62339327	3	2	159	1	0	0	0	0	1	0	0	0	4930	1725	60	5	1127	5	EEF1G	11	62339327	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	834560	62339327	72667189	64	11424											
ODZ4	26011	genome.wustl.edu	37	chr11	78383117	78383117	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccatgtcttcccatcagcGaagatcctggatgtgatgcg	10	12	2	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:78383117G>A	ENST00000278550.7	-	31	6216	c.5754C>T	c.(5752-5754)ttC>ttT	p.F1918F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1918					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCCCATCAGCGAAGATCCTGG	0.537																																																	0								ENSG00000149256						80	79	79					11																	78383117		2063	4200	6263	TENM4	SO:0001819	synonymous_variant	0			-	HGNC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5754C>T	11.37:g.78383117G>A		Somatic	0	40	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	29	0	0	37	43.94	29	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F1918	ENST00000278550.7	37	c.5754	CCDS44688.1	11																																																																																			-	tigrfam_YD		0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	G		-		78383117	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	SNP	0.995	A	A	78383117	G	A	78383117	2	1	159	1	0	0	0	0	0	0	0	1	10839	1049	37	1		1	ODZ4	11	78383117	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	16043790	78383117	56623399	65	11425											
PHLDB1	23187	genome.wustl.edu	37	chr11	118513087	118513087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctcccccgcctctgcCcgccaaagcttcccgtcagc	6	22	4	0	rs554925590		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr11:118513087C>T	ENST00000361417.2	+	14	3263	c.2852C>T	c.(2851-2853)cCc>cTc	p.P951L	PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Missense_Mutation_p.P94L|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	951										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCGCCTCTGCCCGCCAAAGCT	0.637																																																	0								ENSG00000019144						70	72	71					11																	118513087		2200	4295	6495	PHLDB1	SO:0001583	missense	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2852C>T	11.37:g.118513087C>T	ENSP00000354498:p.Pro951Leu	Somatic	0	96	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	64	34.69	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	26	0	0	23	39.47	15	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P951L	ENST00000361417.2	37	c.2852	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675489	0.67928	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000524713	T;T	0.64618	1.03;-0.11	4.89	4.89	0.63831	.	0.502101	0.20824	N	0.085008	T	0.75671	0.3881	L	0.61218	1.895	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.049	D;D;B	0.91635	0.999;0.998;0.016	T	0.74134	-0.3763	10	0.36615	T	0.2	-20.7788	14.7972	0.69886	0.0:1.0:0.0:0.0	.	89;94;951	B7Z2B9;B4DK17;Q86UU1	.;.;PHLB1_HUMAN	L	951;710;315;94	ENSP00000354498:P951L;ENSP00000434905:P94L	ENSP00000350921:P315L	P	+	2	0	PHLDB1	118018297	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	6.589000	0.74080	2.254000	0.74563	0.455000	0.32223	CCC	-	NULL		0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	C	NM_015157	-		118513087	1	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	SNP	0.998	T	T	118513087	C	T	118513087	3	4	159	1	0	0	0	0	1	0	0	0	11853	623	22	2	2898	2	PHLDB1	11	118513087	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	40129970	118513087	16493429	66	11426											
AKAP3	10566	genome.wustl.edu	37	chr12	4737038	4737038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatgagggtccctgtgaCgctgtggagattcctcaaga	13	9	2	4	rs369931580		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr12:4737038C>T	ENST00000545990.2	-	5	1554	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.V344I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	344					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTCCCTGTGACGCTGTGGAGA	0.493																																																	0								ENSG00000111254	C	ILE/VAL	0,4406		0,0,2203	153	145	148		1030	4.8	0.7	12		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	AKAP3	NM_006422.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	344/854	4737038	1,13005	2203	4300	6503	AKAP3	SO:0001583	missense	0			-	HGNC	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1030G>A	12.37:g.4737038C>T	ENSP00000440994:p.Val344Ile	Somatic	0	32	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	22	59.26	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	39	0	0	42	63.16	72	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.V344I	ENST00000545990.2	37	c.1030	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	1.471	-0.559704	0.03967	0.0	1.16E-4	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07327	3.2;3.2	5.67	4.78	0.61160	A-kinase anchor 110kDa, C-terminal (1);	0.206931	0.34386	N	0.004016	T	0.10594	0.0259	L	0.33093	0.98	0.22389	N	0.999145	D	0.61080	0.989	P	0.51777	0.679	T	0.14227	-1.0480	10	0.05959	T	0.93	-19.7276	15.2948	0.73894	0.0:0.9259:0.0:0.0741	.	344	O75969	AKAP3_HUMAN	I	344	ENSP00000228850:V344I;ENSP00000440994:V344I	ENSP00000228850:V344I	V	-	1	0	AKAP3	4607299	0.977000	0.34250	0.706000	0.30403	0.239000	0.25481	1.820000	0.39032	0.871000	0.35750	-0.797000	0.03246	GTC	-	pfam_AKAP_110_C,smart_AKAP_110		0.493	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	protein_coding	OTTHUMT00000398911.2	C	NM_006422	-		4737038	-1	no_errors	ENST00000228850	ensembl	human	known	74_37	missense	SNP	0.915	T	T	4737038	C	T	4737038	3	4	159	1	0	0	0	0	1	0	0	0	452	536	19	1	1539	1	AKAP3	12	4737038	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		4737038	129114857	67	11427											
GAPDH	2597	genome.wustl.edu	37	chr12	6647317	6647317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggacctcatggcccAcatggcctccaaggagtaag	14	11	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr12:6647317A>C	ENST00000229239.5	+	9	1655	c.989A>C	c.(988-990)cAc>cCc	p.H330P	GAPDH_ENST00000396861.1_Missense_Mutation_p.H330P|GAPDH_ENST00000396856.1_Missense_Mutation_p.H255P|GAPDH_ENST00000396858.1_Missense_Mutation_p.H288P|GAPDH_ENST00000396859.1_Missense_Mutation_p.H330P|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	330					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CTCATGGCCCACATGGCCTCC	0.562											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000111640						67	71	70					12																	6647317		2203	4298	6501	GAPDH	SO:0001583	missense	0			-	HGNC	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.989A>C	12.37:g.6647317A>C	ENSP00000229239:p.His330Pro	Somatic	0	25	0	635	0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	27	0	0	54	18.18	12	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.H330P	ENST00000229239.5	37	c.989	CCDS8549.1	12	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254468	0.80135	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.44881	1.92;0.91;1.92;1.92;0.92	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.86805	2.84	0.46396	D	0.999021	P;D;P;D	0.76494	0.952;0.981;0.898;0.999	P;P;P;D	0.67103	0.67;0.77;0.693;0.949	T	0.74472	-0.3654	10	0.87932	D	0	.	13.7336	0.62804	1.0:0.0:0.0:0.0	.	288;330;255;330	E7EUT4;Q2TSD0;E7EUT5;P04406	.;.;.;G3P_HUMAN	P	330;255;330;330;288	ENSP00000229239:H330P;ENSP00000380065:H255P;ENSP00000380070:H330P;ENSP00000380068:H330P;ENSP00000380067:H288P	ENSP00000229239:H330P	H	+	2	0	GAPDH	6517578	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.107000	0.94261	1.828000	0.53243	0.459000	0.35465	CAC	-	pirsf_GlycerAld/Erythrose_P_DH		0.562	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	protein_coding	OTTHUMT00000268059.1	A	NM_002046	-		6647317	1	no_errors	ENST00000229239	ensembl	human	known	74_37	missense	SNP	1.000	C	C	6647317	A	C	6647317	3	2	159	1	0	0	0	0	1	0	0	0	6238	159	6	5	1019	5	GAPDH	12	6647317	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	1910279	6647317	127204578	68	11428											
MLL2	8085	genome.wustl.edu	37	chr12	49446096	49446096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggtggtggggacgtgGgtgattcctcaggtggtggg	20	7	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr12:49446096G>A	ENST00000301067.7	-	10	1369	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	457	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				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)										TGGGGACGTGGGTGATTCCTC	0.642																																																	0								ENSG00000167548						74	82	79					12																	49446096		2160	4232	6392	KMT2D	SO:0001583	missense	0			-	HGNC	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.1370C>T	12.37:g.49446096G>A	ENSP00000301067:p.Pro457Leu	Somatic	0	44	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	O14687	Missense_Mutation	SNP	22	0	0	25	41.86	18	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P457L	ENST00000301067.7	37	c.1370	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	8.577	0.881312	0.17467	.	.	ENSG00000167548	ENST00000301067	T	0.78246	-1.16	4.31	3.33	0.38152	.	.	.	.	.	T	0.66906	0.2837	N	0.08118	0	0.36043	D	0.840248	D	0.59357	0.985	P	0.50270	0.636	T	0.76424	-0.2964	9	0.87932	D	0	.	12.0345	0.53417	0.0:0.1764:0.8236:0.0	.	457	O14686	MLL2_HUMAN	L	457	ENSP00000301067:P457L	ENSP00000301067:P457L	P	-	2	0	MLL2	47732363	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	6.679000	0.74513	2.386000	0.81285	0.313000	0.20887	CCC	-	NULL		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	G		-		49446096	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	SNP	0.990	A	A	49446096	G	A	49446096	3	1	159	1	0	0	0	0	1	0	0	0	9623	1232	43	2	15423	2	MLL2	12	49446096	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	42798779	49446096	84405799	69	11429											
NUAK1	9891	genome.wustl.edu	37	chr12	106461409	106461409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaacttggatgggctttcaGgcactgcatcctgaccagac	10	12	2	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr12:106461409G>T	ENST00000261402.2	-	7	2536	c.1157C>A	c.(1156-1158)cCt>cAt	p.P386H		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	386					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGGCTTTCAGGCACTGCATC	0.532																																																	0								ENSG00000074590						115	107	109					12																	106461409		2203	4300	6503	NUAK1	SO:0001583	missense	0			-	HGNC	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1157C>A	12.37:g.106461409G>T	ENSP00000261402:p.Pro386His	Somatic	0	45	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A7MD39|Q96KA8	Missense_Mutation	SNP	26	0	0	42	27.59	16	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P386H	ENST00000261402.2	37	c.1157	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996406	0.35226	.	.	ENSG00000074590	ENST00000261402;ENST00000553094	T;T	0.74002	-0.8;1.52	5.55	5.55	0.83447	.	0.101220	0.43260	D	0.000598	T	0.65657	0.2712	N	0.22421	0.69	0.09310	N	1	P	0.40875	0.731	P	0.45913	0.497	T	0.61845	-0.6979	10	0.52906	T	0.07	.	8.7785	0.34776	0.0751:0.0:0.7743:0.1506	.	386	O60285	NUAK1_HUMAN	H	386;101	ENSP00000261402:P386H;ENSP00000446873:P101H	ENSP00000261402:P386H	P	-	2	0	NUAK1	104985539	0.987000	0.35691	0.056000	0.19401	0.726000	0.41606	3.205000	0.51090	2.603000	0.88011	0.555000	0.69702	CCT	-	NULL		0.532	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	protein_coding	OTTHUMT00000405767.2	G	NM_014840	-		106461409	-1	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	SNP	0.054	T	T	106461409	G	T	106461409	3	4	159	1	0	0	0	0	1	0	0	0	10714	1000	35	3	832	3	NUAK1	12	106461409	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	57015313	106461409	27390486	70	11430											
BRCA2	675	genome.wustl.edu	37	chr13	32913902	32913902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgcatacccacaaactGtaaatgaagatatttgcgtt	6	8	0	2	rs80359512		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr13:32913902G>A	ENST00000380152.3	+	11	5643	c.5410G>A	c.(5410-5412)Gta>Ata	p.V1804I	BRCA2_ENST00000544455.1_Missense_Mutation_p.V1804I			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1804			V -> A (in BC). {ECO:0000269|PubMed:14722926}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCCACAAACTGTAAATGAAGA	0.318			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0			GRCh37	CD042858	BRCA2	D	rs80359512	ENSG00000139618						66	70	69					13																	32913902		2203	4299	6502	BRCA2	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5410G>A	13.37:g.32913902G>A	ENSP00000369497:p.Val1804Ile	Somatic	0	21	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	8	52.94	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	41	0	0	35	35.19	19	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.V1804I	ENST00000380152.3	37	c.5410	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	g	1.147	-0.647915	0.03506	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00792	5.69;5.69	5.66	-3.21	0.05140	.	1.155220	0.06217	N	0.685956	T	0.00967	0.0032	L	0.56769	1.78	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.47959	-0.9076	10	0.15952	T	0.53	.	6.8298	0.23902	0.5158:0.0:0.3021:0.1821	.	1804	P51587	BRCA2_HUMAN	I	1804	ENSP00000369497:V1804I;ENSP00000439902:V1804I	ENSP00000369497:V1804I	V	+	1	0	BRCA2	31811902	0.000000	0.05858	0.134000	0.22075	0.025000	0.11179	-0.707000	0.05041	-0.338000	0.08413	-0.119000	0.15052	GTA	-	pirsf_BRCA2		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	G	NM_000059	-		32913902	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	SNP	0.000	A	A	32913902	G	A	32913902	3	1	159	1	0	0	0	0	1	0	0	0	1501	1377	48	2	5448	2	BRCA2	13	32913902	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		32913902	82255976	71	11431											
FREM2	341640	genome.wustl.edu	37	chr13	39263070	39263070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagacggctcgctgagcgAcaacctggtgcttcgcatgg	14	12	0	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr13:39263070A>G	ENST00000280481.7	+	1	1805	c.1589A>G	c.(1588-1590)gAc>gGc	p.D530G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	530					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)		TCGCTGAGCGACAACCTGGTG	0.592																																																	0								ENSG00000150893						43	35	38					13																	39263070		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.1589A>G	13.37:g.39263070A>G	ENSP00000280481:p.Asp530Gly	Somatic	0	32	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	28	0	0	25	7.41	2	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D530G	ENST00000280481.7	37	c.1589	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804175	0.50315	.	.	ENSG00000150893	ENST00000280481	T	0.37584	1.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77814	-0.2448	10	0.72032	D	0.01	.	15.4185	0.74991	1.0:0.0:0.0:0.0	.	530	Q5SZK8	FREM2_HUMAN	G	530	ENSP00000280481:D530G	ENSP00000280481:D530G	D	+	2	0	FREM2	38161070	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	9.293000	0.96082	2.052000	0.61016	0.459000	0.35465	GAC	-	NULL		0.592	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	A	NM_207361	-		39263070	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	1.000	G	G	39263070	A	G	39263070	3	3	159	1	0	0	0	0	1	0	0	0	6047	275	10	5	1591	5	FREM2	13	39263070	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	6349168	39263070	75906808	72	11432											
IRF9	10379	genome.wustl.edu	37	chr14	24632708	24632708	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgtgctccaggactcCctcaataatgtaagagatgg	9	12	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr14:24632708C>A	ENST00000396864.3	+	4	773	c.486C>A	c.(484-486)tcC>tcA	p.S162S	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.S60S	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	162					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TCCAGGACTCCCTCAATAATG	0.537																																																	0								ENSG00000213928						97	86	90					14																	24632708		2203	4300	6503	IRF9	SO:0001819	synonymous_variant	0			-	HGNC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.486C>A	14.37:g.24632708C>A		Somatic	0	38	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	D3DS61	Silent	SNP	22	0	0	38	43.28	29	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.S162	ENST00000396864.3	37	c.486	CCDS9615.1	14																																																																																			-	NULL		0.537	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	protein_coding	OTTHUMT00000071927.2	C		-		24632708	1	no_errors	ENST00000396864	ensembl	human	known	74_37	silent	SNP	0.009	A	A	24632708	C	A	24632708	2	1	159	1	0	0	0	0	0	0	0	1	7839	610	22	3		3	IRF9	14	24632708	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		24632708	82716832	73	11433											
ZBTB1	22890	genome.wustl.edu	37	chr14	64990324	64990324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaatttgaggaaagataTgagatcacattataatgcca	7	4	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr14:64990324T>G	ENST00000554015.1	+	4	2533	c.2102T>G	c.(2101-2103)aTg>aGg	p.M701R	ZBTB1_ENST00000394712.2_Missense_Mutation_p.M701R|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Intron			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	701					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGGAAAGATATGAGATCACAT	0.333																																																	0								ENSG00000126804						94	75	81					14																	64990324		692	1591	2283	ZBTB1	SO:0001583	missense	0			-	HGNC	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.2102T>G	14.37:g.64990324T>G	ENSP00000451000:p.Met701Arg	Somatic	0	18	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	A8K6S8|Q86SW8	Missense_Mutation	SNP	36	0	0	10	73.68	28	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M701R	ENST00000554015.1	37	c.2102	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	T	14.40	2.522921	0.44866	.	.	ENSG00000126804	ENST00000554015;ENST00000394712	T;T	0.14893	2.47;2.47	5.66	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.15565	0.0375	L	0.45051	1.395	0.58432	D	0.999995	B	0.10296	0.003	B	0.10450	0.005	T	0.04090	-1.0978	8	.	.	.	-11.9639	12.82	0.57688	0.0:0.0:0.1366:0.8634	.	701	Q9Y2K1	ZBTB1_HUMAN	R	701	ENSP00000451000:M701R;ENSP00000378201:M701R	.	M	+	2	0	ZBTB1	64060077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.662000	0.83803	0.954000	0.37851	0.529000	0.55759	ATG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.333	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	protein_coding	OTTHUMT00000411912.1	T		-		64990324	1	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	SNP	1.000	G	G	64990324	T	G	64990324	3	3	159	1	0	0	0	0	1	0	0	0	17529	1464	51	5	2104	5	ZBTB1	14	64990324	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	40357616	64990324	42359216	74	11434											
SPRED1	161742	genome.wustl.edu	37	chr15	38641682	38641682	+	Silent	SNP	G	G	T													agtatggaatacgtacagcgGcaaatatccaaggaatgtgg							TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr15:38641682G>T	ENST00000299084.4	+	6	1502	c.642G>T	c.(640-642)cgG>cgT	p.R214R		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	214					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACGTACAGCGGCAAATATCCA	0.333									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0								ENSG00000166068						95	89	91					15																	38641682		2200	4297	6497	SPRED1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	-	HGNC	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.642G>T	15.37:g.38641682G>T		Somatic	0	45	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	B2RPJ8|Q05D53|Q8N256	Silent	SNP	41	0	0	18	60.00	27	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R214	ENST00000299084.4	37	c.642	CCDS32193.1	15																																																																																			-	NULL		0.333	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	protein_coding	OTTHUMT00000418217.1	G		-		38641682	1	no_errors	ENST00000299084	ensembl	human	known	74_37	silent	SNP	0.996	T	T	38641682	G	T	38641682	2	4	159	1	0	0	0	0	0	0	0	1	15099	1190	42	3		3	SPRED1	15	38641682	Silent	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		38641682	63889710	75	11435	180	2									
SPRED1	161742	genome.wustl.edu	37	chr15	38641683	38641683	+	Nonsense_Mutation	SNP	C	C	T													gtatggaatacgtacagcggCaaatatccaaggaatgtgga					rs121434314		TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr15:38641683C>T	ENST00000299084.4	+	6	1503	c.643C>T	c.(643-645)Caa>Taa	p.Q215*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	215					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CGTACAGCGGCAAATATCCAA	0.338									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0			GRCh37	CM074581	SPRED1	M	rs121434314	ENSG00000166068						95	89	91					15																	38641683		2200	4297	6497	SPRED1	SO:0001587	stop_gained	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	-	HGNC	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.643C>T	15.37:g.38641683C>T	ENSP00000299084:p.Gln215*	Somatic	0	44	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	40	0	0	17	62.22	28	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.Q215*	ENST00000299084.4	37	c.643	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	C	44	10.853040	0.99478	.	.	ENSG00000166068	ENST00000299084	.	.	.	5.16	5.16	0.70880	.	0.270493	0.30003	N	0.010651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-20.6426	14.1458	0.65349	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000299084:Q215X	Q	+	1	0	SPRED1	36428975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.484000	0.53201	2.428000	0.82296	0.650000	0.86243	CAA	-	NULL		0.338	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	protein_coding	OTTHUMT00000418217.1	C		rs121434314		38641683	1	no_errors	ENST00000299084	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	38641683	C	T	38641683	4	4	159	1	0	0	0	0	0	1	0	0	15099	711	25	2	665	2	SPRED1	15	38641683	Nonsense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	1	38641683	63889709	76	11436	180	2									
UNC13C	440279	genome.wustl.edu	37	chr15	54630676	54630676	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccatgaactctactcccagCtaacagacccggtaagaaaa	7	13	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr15:54630676C>G	ENST00000260323.11	+	16	4702	c.4702C>G	c.(4702-4704)Cta>Gta	p.L1568V	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1568V|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1566V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1568					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTACTCCCAGCTAACAGACCC	0.388																																																	0								ENSG00000137766						99	100	99					15																	54630676		1839	4098	5937	UNC13C	SO:0001583	missense	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4702C>G	15.37:g.54630676C>G	ENSP00000260323:p.Leu1568Val	Somatic	0	43	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	4	84.00	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	38	0	0	18	55.00	22	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1568V	ENST00000260323.11	37	c.4702	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270572	0.40194	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79352	-1.26;-1.26;-1.26	5.26	5.26	0.73747	Calcium-dependent secretion activator (1);	0.000000	0.64402	D	0.000002	T	0.78084	0.4228	L	0.47716	1.5	0.49051	D	0.999741	P;D	0.53619	0.841;0.961	P;P	0.50082	0.583;0.63	T	0.75416	-0.3325	10	0.30078	T	0.28	.	16.4203	0.83755	0.0:1.0:0.0:0.0	.	1568;1568	F5H090;Q8NB66	.;UN13C_HUMAN	V	1568;1568;1566	ENSP00000260323:L1568V;ENSP00000438156:L1568V;ENSP00000442569:L1566V	ENSP00000260323:L1568V	L	+	1	2	UNC13C	52417968	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	2.711000	0.47177	2.734000	0.93682	0.655000	0.94253	CTA	-	pfam_Ca-dep_secretion_activator		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166	-		54630676	1	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54630676	C	G	54630676	3	3	159	1	0	0	0	0	1	0	0	0	16993	796	28	4	4760	4	UNC13C	15	54630676	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	15988993	54630676	47900716	77	11437											
GCOM1	100820829	genome.wustl.edu	37	chr15	57924644	57924644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtaggtggaatcgtccCaagaagccaatgctgaggtg	14	8	0	2			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr15:57924644C>A	ENST00000267853.5	+	7	785	c.691C>A	c.(691-693)Caa>Aaa	p.Q231K	GCOM1_ENST00000380561.2_Missense_Mutation_p.Q200K|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q231K|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q162K|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q231K|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q231K|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000574161.1_Missense_Mutation_p.Q231K|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q200K|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q231K|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q231K			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	231					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GGAATCGTCCCAAGAAGCCAA	0.512																																																	0								ENSG00000137878						203	180	188					15																	57924644		2192	4292	6484	GCOM1	SO:0001583	missense	0			-	HGNC	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.691C>A	15.37:g.57924644C>A	ENSP00000267853:p.Gln231Lys	Somatic	1	189	0.53		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	62	55.40	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	30	0	0	11	64.52	20	NULL	p.Q231K	ENST00000267853.5	37	c.691	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903007	0.72754	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.36	5.36	0.76844	.	0.247102	0.42053	D	0.000761	T	0.35624	0.0938	L	0.50333	1.59	0.80722	D	1	P;B;P;P	0.45176	0.852;0.214;0.852;0.765	P;B;P;B	0.44359	0.447;0.199;0.447;0.297	T	0.04593	-1.0940	10	0.34782	T	0.22	-11.4559	17.8563	0.88764	0.0:1.0:0.0:0.0	.	231;231;231;231	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	K	231;200;200;162;231;231;231	ENSP00000369943:Q231K;ENSP00000369935:Q200K;ENSP00000379483:Q200K;ENSP00000369933:Q162K;ENSP00000267853:Q231K;ENSP00000369939:Q231K;ENSP00000369942:Q231K	ENSP00000267853:Q231K	Q	+	1	0	GCOM1	55711936	1.000000	0.71417	0.983000	0.44433	0.837000	0.47467	6.663000	0.74431	2.518000	0.84900	0.650000	0.86243	CAA	-	NULL		0.512	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	protein_coding	OTTHUMT00000255716.2	C	NM_001018100	-		57924644	1	no_errors	ENST00000380569	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57924644	C	A	57924644	3	1	159	1	0	0	0	0	1	0	0	0	6306	595	21	3	717	3	GCOM1	15	57924644	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	3293968	57924644	44606748	78	11438											
SNAI3	333929	genome.wustl.edu	37	chr16	88747687	88747687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtggcagtgcagctgcCggtgcctggccagcccggcc	17	15	0	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr16:88747687C>T	ENST00000332281.5	-	2	598	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	171					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GTGCAGCTGCCGGTGCCTGGC	0.647																																					Colon(27;366 710 19748 23199 27567)												0								ENSG00000185669						49	52	51					16																	88747687		2198	4299	6497	SNAI3	SO:0001583	missense	0			-	HGNC	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.512G>A	16.37:g.88747687C>T	ENSP00000327968:p.Arg171Gln	Somatic	0	72	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	49	33.78	Q86SU5	Missense_Mutation	SNP	23	0	0	35	31.37	16	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R171Q	ENST00000332281.5	37	c.512	CCDS32505.1	16	.	.	.	.	.	.	.	.	.	.	C	9.781	1.175333	0.21704	.	.	ENSG00000185669	ENST00000332281	T	0.06294	3.32	4.37	0.591	0.17465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.481301	0.19523	N	0.112227	T	0.01835	0.0058	N	0.03903	-0.33	0.33595	D	0.601623	B	0.17465	0.022	B	0.15484	0.013	T	0.45175	-0.9279	10	0.02654	T	1	-9.5172	3.1032	0.06333	0.187:0.3529:0.0:0.4601	.	171	Q3KNW1	SNAI3_HUMAN	Q	171	ENSP00000327968:R171Q	ENSP00000327968:R171Q	R	-	2	0	SNAI3	87275188	0.740000	0.28207	0.995000	0.50966	0.761000	0.43186	0.097000	0.15168	-0.121000	0.11787	0.491000	0.48974	CGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI3	protein_coding	OTTHUMT00000422582.1	C		-		88747687	-1	no_errors	ENST00000332281	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88747687	C	T	88747687	3	4	159	1	0	0	0	0	1	0	0	0	14836	652	23	1	374	1	SNAI3	16	88747687	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		88747687	1607066	79	11439											
DPEP1	1800	genome.wustl.edu	37	chr16	89702330	89702330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggcacaatgacctccCctggcagctgctggatatgt	10	14	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr16:89702330C>T	ENST00000393092.3	+	3	410	c.119C>T	c.(118-120)cCc>cTc	p.P40L	DPEP1_ENST00000261615.4_Missense_Mutation_p.P40L|DPEP1_ENST00000421184.1_Missense_Mutation_p.P40L	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	40					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AATGACCTCCCCTGGCAGCTG	0.657																																																	0								ENSG00000015413						46	40	42					16																	89702330		2184	4287	6471	DPEP1	SO:0001583	missense	0			-	HGNC		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.119C>T	16.37:g.89702330C>T	ENSP00000376807:p.Pro40Leu	Somatic	0	81	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	37	35.09	D3DX80|Q96AK2	Missense_Mutation	SNP	34	0	0	38	11.63	5	pfam_Peptidase_M19	p.P40L	ENST00000393092.3	37	c.119	CCDS10982.1	16	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359443	0.61403	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.21361	2.01;2.01;2.01	5.25	4.29	0.51040	.	0.051865	0.85682	D	0.000000	T	0.44244	0.1284	M	0.85197	2.74	0.80722	D	1	D	0.54964	0.969	P	0.55112	0.769	T	0.54563	-0.8275	10	0.72032	D	0.01	-10.297	14.699	0.69142	0.0:0.8536:0.1464:0.0	.	40	P16444	DPEP1_HUMAN	L	40	ENSP00000397313:P40L;ENSP00000376807:P40L;ENSP00000261615:P40L	ENSP00000261615:P40L	P	+	2	0	DPEP1	88229831	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	5.417000	0.66423	1.183000	0.42943	0.555000	0.69702	CCC	-	pfam_Peptidase_M19		0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	protein_coding	OTTHUMT00000423058.1	C	NM_001128141	-		89702330	1	no_errors	ENST00000261615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89702330	C	T	89702330	3	4	159	1	0	0	0	0	1	0	0	0	4715	623	22	2	125	2	DPEP1	16	89702330	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	954643	89702330	652423	80	11440											
SPNS3	201305	genome.wustl.edu	37	chr17	4389838	4389838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctgactgcgctgtaCctggagagagacgagacccg	13	12	0	4			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:4389838C>T	ENST00000355530.2	+	11	1690	c.1410C>T	c.(1408-1410)taC>taT	p.Y470Y	RP13-580F15.2_ENST00000576086.1_RNA|SPNS3_ENST00000333476.2_Silent_p.Y343Y|RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	470					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGCGCTGTACCTGGAGAGAG	0.657																																																	0								ENSG00000182557						35	39	38					17																	4389838		2203	4300	6503	SPNS3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1410C>T	17.37:g.4389838C>T		Somatic	0	46	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	Q8IZ31	Silent	SNP	42	0	0	14	46.15	12	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y470	ENST00000355530.2	37	c.1410	CCDS11045.1	17																																																																																			-	pfscan_MFS_dom		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	protein_coding	OTTHUMT00000438793.1	C	NM_182538	-		4389838	1	no_errors	ENST00000355530	ensembl	human	known	74_37	silent	SNP	0.998	T	T	4389838	C	T	4389838	2	4	159	1	0	0	0	0	0	0	0	1	15083	518	18	2		2	SPNS3	17	4389838	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		4389838	76805372	81	11441											
GLTPD2	388323	genome.wustl.edu	37	chr17	4692361	4692361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggttcagccactcaattCctctcgctatcttcgcgctg	7	15	4	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:4692361C>T	ENST00000331264.7	+	1	108	c.55C>T	c.(55-57)Cct>Tct	p.P19S	VMO1_ENST00000416307.2_5'Flank|VMO1_ENST00000441199.2_5'Flank|VMO1_ENST00000354194.4_5'Flank|VMO1_ENST00000328739.5_5'Flank	NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	19						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						CCACTCAATTCCTCTCGCTAT	0.662																																																	0								ENSG00000182327						58	48	52					17																	4692361		2203	4300	6503	GLTPD2	SO:0001583	missense	0			-	HGNC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.55C>T	17.37:g.4692361C>T	ENSP00000328070:p.Pro19Ser	Somatic	1	129	0.77		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	64	20.99	A7E2T2	Missense_Mutation	SNP	33	0	0	20	20.00	5	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom	p.P19S	ENST00000331264.7	37	c.55	CCDS32534.1	17	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807433	0.31961	.	.	ENSG00000182327	ENST00000331264	.	.	.	4.24	2.12	0.27331	.	0.548504	0.17888	N	0.158616	T	0.28200	0.0696	L	0.34521	1.04	0.09310	N	1	B	0.20550	0.046	B	0.15870	0.014	T	0.19976	-1.0289	9	0.59425	D	0.04	-1.0196	5.9975	0.19501	0.0:0.7005:0.1922:0.1072	.	19	A6NH11	GLTD2_HUMAN	S	19	.	ENSP00000328070:P19S	P	+	1	0	GLTPD2	4639101	0.003000	0.15002	0.004000	0.12327	0.010000	0.07245	0.831000	0.27476	0.495000	0.27882	0.561000	0.74099	CCT	-	NULL		0.662	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTPD2	protein_coding	OTTHUMT00000439781.1	C	NM_001014985	-		4692361	1	no_errors	ENST00000331264	ensembl	human	known	74_37	missense	SNP	0.009	T	T	4692361	C	T	4692361	3	4	159	1	0	0	0	0	1	0	0	0	6475	855	30	2	57	2	GLTPD2	17	4692361	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	302523	4692361	76502849	82	11442											
TP53	7157	genome.wustl.edu	37	chr17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtttcttctttggctGgggagaggagctggtgttgt	17	5	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_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)		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)						ENSG00000141510						129	119	122					17																	7576897		2203	4300	6503	TP53	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;	-	HGNC	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*	Somatic	0	73	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	32	45.76	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	34	0	0	16	57.89	22	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	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	-		7576897	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.012	A	A	7576897	G	A	7576897	4	1	159	1	0	0	0	0	0	1	0	0	16388	1357	47	2	333	2	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	2884536	7576897	73618313	83	11443											
TBC1D29	26083	genome.wustl.edu	37	chr17	28887657	28887657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcgggctcaccccgtGcctgtgggatatgtatttgc	11	13	2	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:28887657G>A	ENST00000580161.1	+	4	2598	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	TBC1D29_ENST00000584297.1_Missense_Mutation_p.C34Y|RP11-218M11.6_ENST00000582125.1_RNA|TBC1D29_ENST00000579181.1_Missense_Mutation_p.C34Y			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	34	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CTCACCCCGTGCCTGTGGGAT	0.562																																																	0								ENSG00000266733						138	115	123					17																	28887657		2203	4300	6503	TBC1D29	SO:0001583	missense	0			-	HGNC	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.101G>A	17.37:g.28887657G>A	ENSP00000462799:p.Cys34Tyr	Somatic	0	131	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	88	12.87		Missense_Mutation	SNP	37	0	0	61	15.28	11	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.C34Y	ENST00000580161.1	37	c.101	CCDS32606.1	17	.	.	.	.	.	.	.	.	.	.	.	9.300	1.052824	0.19907	.	.	ENSG00000197689	ENST00000329040;ENST00000378698	.	.	.	.	.	.	Rab-GAP/TBC domain (2);	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.26300	N	0.977996	B	0.29909	0.261	B	0.19946	0.027	T	0.16188	-1.0411	6	0.87932	D	0	.	.	.	.	.	34	Q9UFV1	TBC29_HUMAN	Y	34	.	ENSP00000330052:C34Y	C	+	2	0	TBC1D29	25911783	0.863000	0.29885	0.006000	0.13384	0.006000	0.05464	3.222000	0.51223	0.121000	0.18284	0.123000	0.15791	TGC	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.562	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	protein_coding	OTTHUMT00000443632.1	G	NM_015594	-		28887657	1	no_errors	ENST00000579181	ensembl	human	known	74_37	missense	SNP	0.993	A	A	28887657	G	A	28887657	3	1	159	1	0	0	0	0	1	0	0	0	15625	1319	46	2	111	2	TBC1D29	17	28887657	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	21310760	28887657	52307553	84	11444											
EFCAB3	146779	genome.wustl.edu	37	chr17	60493435	60493435	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagatgctaaacctctgGcagaagatccgaggggattt	12	7	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:60493435G>A	ENST00000305286.3	+	10	1140	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	EFCAB3_ENST00000450662.2_Nonsense_Mutation_p.W406*	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	354							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TAAACCTCTGGCAGAAGATCC	0.413																																																	0								ENSG00000172421						99	102	101					17																	60493435		2203	4300	6503	EFCAB3	SO:0001587	stop_gained	0			-	HGNC	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1062G>A	17.37:g.60493435G>A	ENSP00000302649:p.Trp354*	Somatic	0	42	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	J3KQM8	Nonsense_Mutation	SNP	44	0	0	86	0.00	0	pfscan_EF_hand_dom	p.W406*	ENST00000305286.3	37	c.1218	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134596	0.77662	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	.	.	.	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.837	0.70192	0.0:0.0:1.0:0.0	.	.	.	.	X	406;354	.	ENSP00000302649:W354X	W	+	3	0	EFCAB3	57847167	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.978000	0.63799	2.615000	0.88500	0.555000	0.69702	TGG	-	NULL		0.413	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	protein_coding	OTTHUMT00000379114.1	G	NM_173503	-		60493435	1	no_errors	ENST00000450662	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	60493435	G	A	60493435	4	1	159	1	0	0	0	0	0	1	0	0	4937	1212	42	2	1264	2	EFCAB3	17	60493435	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	31605778	60493435	20701775	85	11445											
ABCA8	10351	genome.wustl.edu	37	chr17	66877272	66877272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctacttgtccagcagTtggttttgtgtctccagtta	8	10	2	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:66877272T>C	ENST00000269080.2	-	30	4044	c.3907A>G	c.(3907-3909)Act>Gct	p.T1303A	ABCA8_ENST00000430352.2_Missense_Mutation_p.T1343A|ABCA8_ENST00000586539.1_Missense_Mutation_p.T1343A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1303	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTCCAGCAGTTGGTTTTGTG	0.338																																																	0								ENSG00000141338						132	118	122					17																	66877272		2203	4300	6503	ABCA8	SO:0001583	missense	0			-	HGNC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3907A>G	17.37:g.66877272T>C	ENSP00000269080:p.Thr1303Ala	Somatic	0	65	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	40	0	0	40	46.05	35	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1343A	ENST00000269080.2	37	c.4027	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161773	0.78226	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.94092	-3.35;-3.35	4.3	4.3	0.51218	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.295501	0.24298	N	0.039750	D	0.94561	0.8248	M	0.74258	2.255	0.43536	D	0.995826	P;P;P	0.44195	0.828;0.648;0.828	P;P;P	0.50934	0.58;0.523;0.654	D	0.95101	0.8230	10	0.87932	D	0	.	13.0633	0.59020	0.0:0.0:0.0:1.0	.	1343;1343;1303	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	A	1303;1343	ENSP00000269080:T1303A;ENSP00000402814:T1343A	ENSP00000269080:T1303A	T	-	1	0	ABCA8	64388867	0.997000	0.39634	0.769000	0.31535	0.984000	0.73092	7.011000	0.76359	1.942000	0.56320	0.533000	0.62120	ACT	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.338	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	protein_coding	OTTHUMT00000450172.1	T	NM_007168	-		66877272	-1	no_errors	ENST00000430352	ensembl	human	known	74_37	missense	SNP	0.996	C	C	66877272	T	C	66877272	3	2	159	1	0	0	0	0	1	0	0	0	38	1725	60	5	874	5	ABCA8	17	66877272	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	6383837	66877272	14317938	86	11446											
FOXK2	3607	genome.wustl.edu	37	chr17	80540673	80540673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcaaagtgccgcgttcCcaggaagaaccaggcaaagg	11	11	2	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr17:80540673C>T	ENST00000335255.5	+	5	1140	c.966C>T	c.(964-966)tcC>tcT	p.S322S	snoU13_ENST00000459591.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGCCGCGTTCCCAGGAAGAAC	0.423																																																	0								ENSG00000141568						58	60	59					17																	80540673		2203	4300	6503	FOXK2	SO:0001819	synonymous_variant	0			-	HGNC	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.966C>T	17.37:g.80540673C>T		Somatic	0	30	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	44	0	0	77	12.50	11	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.S322	ENST00000335255.5	37	c.966	CCDS11813.1	17																																																																																			-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.423	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	protein_coding	OTTHUMT00000277099.2	C	NM_181430	-		80540673	1	no_errors	ENST00000335255	ensembl	human	known	74_37	silent	SNP	1.000	T	T	80540673	C	T	80540673	2	4	159	1	0	0	0	0	0	0	0	1	6017	610	22	2		2	FOXK2	17	80540673	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	13663401	80540673	654537	87	11447											
LRRC30	339291	genome.wustl.edu	37	chr18	7232042	7232042	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaaaaaacacacctgAcctgggtcccggaggcctgg	12	12	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr18:7232042A>T	ENST00000383467.2	+	1	920	c.906A>T	c.(904-906)tgA>tgT	p.*302C		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	0										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AACACACCTGACCTGGGTCCC	0.562																																																	0								ENSG00000206422						77	85	82					18																	7232042		1922	4135	6057	LRRC30	SO:0001578	stop_lost	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.906A>T	18.37:g.7232042A>T	ENSP00000372959:p.*302Cysext*?	Somatic	0	26	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	4	71.43		Nonstop_Mutation	SNP	31	0	0	15	54.55	18	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.*302C	ENST00000383467.2	37	c.906	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568266	0.28003	.	.	ENSG00000206422	ENST00000383467	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5132	0.61524	1.0:0.0:0.0:0.0	.	.	.	.	C	302	.	.	X	+	3	0	LRRC30	7222042	1.000000	0.71417	0.472000	0.27241	0.067000	0.16453	6.637000	0.74304	2.132000	0.65825	0.533000	0.62120	TGA	-	NULL		0.562	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	A	XM_292678	-		7232042	1	no_errors	ENST00000383467	ensembl	human	known	74_37	nonstop	SNP	0.911	T	T	7232042	A	T	7232042	4	4	159	1	0	0	0	0	0	0	0	0	8987	290	10	5	908	5	LRRC30	18	7232042	Nonstop_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09		7232042	70845206	88	11448											
MBD3	53615	genome.wustl.edu	37	chr19	1584657	1584657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcgcacgggcagcgccGtgttcaggtcgggcttgccc	16	14	2	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr19:1584657G>A	ENST00000434436.3	-	3	419	c.290C>T	c.(289-291)aCg>aTg	p.T97M	MBD3_ENST00000156825.1_Missense_Mutation_p.T97M|MBD3_ENST00000590550.2_Missense_Mutation_p.T41M|MBD3_ENST00000585967.1_5'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.T65M|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	97					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCAGCGCCGTGTTCAGGTC	0.701																																																	0								ENSG00000071655						70	59	63					19																	1584657		2203	4300	6503	MBD3	SO:0001583	missense	0			-	HGNC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.290C>T	19.37:g.1584657G>A	ENSP00000412302:p.Thr97Met	Somatic	0	49	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	30	0	0	19	48.65	18	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.T97M	ENST00000434436.3	37	c.290	CCDS12072.1	19	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497123	0.85069	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98633	-5.04	4.89	4.89	0.63831	Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.926	D	0.99513	1.0956	10	0.34782	T	0.22	-37.2615	17.0256	0.86446	0.0:0.0:1.0:0.0	.	65;97	O95983-2;O95983	.;MBD3_HUMAN	M	65;97	ENSP00000156825:T97M	ENSP00000156825:T97M	T	-	2	0	MBD3	1535657	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.493000	0.97960	2.249000	0.74217	0.462000	0.41574	ACG	-	superfamily_DNA-bd_dom		0.701	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	protein_coding	OTTHUMT00000449658.2	G	NM_003926	-		1584657	-1	no_errors	ENST00000156825	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1584657	G	A	1584657	3	1	159	1	0	0	0	0	1	0	0	0	9346	1145	40	1	601	1	MBD3	19	1584657	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		1584657	57544326	89	11449											
MUC16	94025	genome.wustl.edu	37	chr19	9085355	9085355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggccagaaacatctgAtctagaagttatggccattg	10	7	2	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr19:9085355A>T	ENST00000397910.4	-	1	6663	c.6460T>A	c.(6460-6462)Tca>Aca	p.S2154T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2154	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						GAAACATCTGATCTAGAAGTT	0.488																																																	0								ENSG00000181143						64	63	63					19																	9085355		1916	4130	6046	MUC16	SO:0001583	missense	0			-	HGNC	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.6460T>A	19.37:g.9085355A>T	ENSP00000381008:p.Ser2154Thr	Somatic	0	52	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	45	0	0	30	41.18	21	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S2154T	ENST00000397910.4	37	c.6460	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	1.837	-0.468341	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	0.235	0.235	0.15431	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	.	.	.	P	0.46395	0.877	P	0.51866	0.682	T	0.46091	-0.9216	7	0.87932	D	0	.	.	.	.	.	2154	B5ME49	.	T	2154	ENSP00000381008:S2154T	ENSP00000381008:S2154T	S	-	1	0	MUC16	8946355	0.001000	0.12720	0.017000	0.16124	0.016000	0.09150	-0.250000	0.08830	0.263000	0.21812	0.260000	0.18958	TCA	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	A	NM_024690	-		9085355	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.019	T	T	9085355	A	T	9085355	3	4	159	1	0	0	0	0	1	0	0	0	9975	333	12	5	37399	5	MUC16	19	9085355	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	7500698	9085355	50043628	90	11450											
TSSK6	51079	genome.wustl.edu	37	chr19	19626029	19626029	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgtgcacgatgtgcgGgtgtcgcacgccccgcagga	16	12	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr19:19626029G>A	ENST00000507754.4	+	0	0				CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.P70S|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.P70S|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						ACGATGTGCGGGTGTCGCACG	0.647																																																	0								ENSG00000178093						63	55	58					19																	19626029		2203	4300	6503	TSSK6	SO:0001631	upstream_gene_variant	0			-	HGNC	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626029G>A	Exception_encountered	Somatic	0	39	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	25	0	0	34	32.00	16	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P70S	ENST00000507754.4	37	c.208	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590217	0.66105	.	.	ENSG00000178093	ENST00000360913	T	0.33216	1.42	4.85	4.85	0.62838	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	0.41396	U	0.000887	T	0.50343	0.1610	M	0.85710	2.77	0.40720	D	0.982651	P	0.46706	0.883	P	0.51297	0.665	T	0.60850	-0.7181	10	0.87932	D	0	.	13.4981	0.61438	0.0:0.0:1.0:0.0	.	70	Q9BXA6	TSSK6_HUMAN	S	70	ENSP00000354168:P70S	ENSP00000354168:P70S	P	-	1	0	TSSK6	19487029	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.176000	0.65026	2.252000	0.74401	0.306000	0.20318	CCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.647	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TSSK6	protein_coding	OTTHUMT00000367916.6	G	NM_015965	-		19626029	-1	no_errors	ENST00000360913	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19626029	G	A	19626029	1	1	159	0	1	0	0	0	0	0	0	0	16679	1232	43	2		2	TSSK6	19	19626029	5'Flank	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	10540674	19626029	39502954	91	11451											
LRFN1	57622	genome.wustl.edu	37	chr19	39799115	39799115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtagaccgccagcacgcAcaagtcgtaggcacggcccg	13	15	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr19:39799115A>C	ENST00000248668.4	-	2	1473	c.1474T>G	c.(1474-1476)Tgc>Ggc	p.C492G		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	492	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCAGCACGCACAAGTCGTAG	0.682																																																	0								ENSG00000128011						16	18	17					19																	39799115		1999	4104	6103	LRFN1	SO:0001583	missense	0			-	HGNC	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1474T>G	19.37:g.39799115A>C	ENSP00000248668:p.Cys492Gly	Somatic	0	21	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	Q8TBS9	Missense_Mutation	SNP	30	0	0	23	20.69	6	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C492G	ENST00000248668.4	37	c.1474	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576287	0.65878	.	.	ENSG00000128011	ENST00000248668	T	0.56611	0.45	4.49	3.43	0.39272	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42172	D	0.000746	T	0.71005	0.3289	M	0.83774	2.66	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72323	-0.4328	10	0.87932	D	0	.	9.1059	0.36698	0.8147:0.1853:0.0:0.0	.	492	Q9P244	LRFN1_HUMAN	G	492	ENSP00000248668:C492G	ENSP00000248668:C492G	C	-	1	0	LRFN1	44490955	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.934000	0.92915	0.724000	0.32296	0.379000	0.24179	TGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	protein_coding	OTTHUMT00000463835.1	A	NM_020862	-		39799115	-1	no_errors	ENST00000248668	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39799115	A	C	39799115	3	2	159	1	0	0	0	0	1	0	0	0	8939	159	6	5	845	5	LRFN1	19	39799115	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	20173086	39799115	19329868	92	11452											
ZNF226	7769	genome.wustl.edu	37	chr19	44680347	44680347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaacttaagtgtgatgAgtgtggtaaggaattcagtc	12	3	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr19:44680347A>T	ENST00000590089.1	+	7	1299	c.932A>T	c.(931-933)gAg>gTg	p.E311V	ZNF226_ENST00000337433.5_Missense_Mutation_p.E311V|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E311V			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	311					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)						Prostate(69;0.0352)|all_neural(266;0.202)				AAGTGTGATGAGTGTGGTAAG	0.433																																					Pancreas(115;581 1665 13228 19278 50070)												0								ENSG00000167380						68	71	70					19																	44680347		2120	4241	6361	ZNF226	SO:0001583	missense	0			-	HGNC	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.932A>T	19.37:g.44680347A>T	ENSP00000465121:p.Glu311Val	Somatic	0	41	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	43	0	0	44	31.25	20	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E311V	ENST00000590089.1	37	c.932	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	A	0.811	-0.751934	0.03041	.	.	ENSG00000167380	ENST00000536276;ENST00000337433;ENST00000454662	T;T	0.04706	3.57;3.57	3.86	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.818768	0.09964	N	0.733013	T	0.06096	0.0158	L	0.43757	1.38	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.33624	-0.9861	10	0.51188	T	0.08	.	9.6333	0.39793	0.8235:0.1765:0.0:0.0	.	311	Q9NYT6	ZN226_HUMAN	V	19;311;311	ENSP00000336719:E311V;ENSP00000393265:E311V	ENSP00000336719:E311V	E	+	2	0	ZNF226	49372187	0.000000	0.05858	0.006000	0.13384	0.043000	0.13939	0.087000	0.14958	0.638000	0.30545	-0.332000	0.08345	GAG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	protein_coding	OTTHUMT00000460712.1	A		-		44680347	1	no_errors	ENST00000337433	ensembl	human	known	74_37	missense	SNP	0.017	T	T	44680347	A	T	44680347	3	4	159	1	0	0	0	0	1	0	0	0	17787	304	11	5	1000	5	ZNF226	19	44680347	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	4881232	44680347	14448636	93	11453											
ZNF347	84671	genome.wustl.edu	37	chr19	53645440	53645440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgaggaattattgttgAaagacttctcaacctgatta	7	6	1	4			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr19:53645440A>C	ENST00000334197.7	-	5	709	c.641T>G	c.(640-642)tTc>tGc	p.F214C	ZNF347_ENST00000601469.2_Missense_Mutation_p.F215C|ZNF347_ENST00000452676.2_Missense_Mutation_p.F215C|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	214					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATTATTGTTGAAAGACTTCTC	0.328																																					Melanoma(64;205 1597 17324 45721)												0								ENSG00000197937						114	116	115					19																	53645440		2203	4300	6503	ZNF347	SO:0001583	missense	0			-	HGNC	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.641T>G	19.37:g.53645440A>C	ENSP00000334146:p.Phe214Cys	Somatic	0	47	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	42	0	0	57	27.85	22	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F215C	ENST00000334197.7	37	c.644	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	9.182	1.023803	0.19433	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.06849	3.26;3.25	2.67	0.309	0.15820	.	.	.	.	.	T	0.10981	0.0268	L	0.42245	1.32	0.09310	N	1	D;P	0.54964	0.969;0.887	P;B	0.53146	0.719;0.135	T	0.20739	-1.0266	9	0.72032	D	0.01	.	2.2285	0.03991	0.4963:0.0:0.2775:0.2262	.	215;214	G5E9N4;Q96SE7	.;ZN347_HUMAN	C	214;215	ENSP00000334146:F214C;ENSP00000405218:F215C	ENSP00000334146:F214C	F	-	2	0	ZNF347	58337252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.077000	0.30741	-0.124000	0.11724	-0.290000	0.09829	TTC	-	NULL		0.328	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	protein_coding	OTTHUMT00000464170.1	A	NM_032584	-		53645440	-1	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	SNP	0.000	C	C	53645440	A	C	53645440	3	2	159	1	0	0	0	0	1	0	0	0	17868	246	9	5	1882	5	ZNF347	19	53645440	Missense_Mutation	SNP	A	TCGA-IS-A3K7-01A-11D-A21Q-09	8965093	53645440	5483543	94	11454											
ProSAPiP1	9762	genome.wustl.edu	37	chr20	3146263	3146263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctcctcctgcagctgCttcttgtcctgctgcagccg	10	18	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr20:3146263C>T	ENST00000329152.3	-	2	2600	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	LZTS3_ENST00000337576.5_Silent_p.K355K|LZTS3_ENST00000360342.3_Silent_p.K355K			O60299	LZTS3_HUMAN		401						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CCTGCAGCTGCTTCTTGTCCT	0.701																																																	0								ENSG00000088899						8	10	9					20																	3146263		2065	4085	6150	LZTS3	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000329152.3:c.1203G>A	20.37:g.3146263C>T		Somatic	0	42	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	32	0	0	20	25.93	7	NULL	p.K401	ENST00000329152.3	37	c.1203	CCDS13049.1	20																																																																																			-	NULL		0.701	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS3	protein_coding	OTTHUMT00000077715.2	C		-		3146263	-1	no_errors	ENST00000329152	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3146263	C	T	3146263	2	4	159	1	0	0	0	0	0	0	0	1	12878	796	28	2		2	ProSAPiP1	20	3146263	Silent	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		3146263	59879257	95	11455											
ATP9A	10079	genome.wustl.edu	37	chr20	50255956	50255956	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaagttcaggatctGgtcgccaggggtcctcagct	15	9	3	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr20:50255956G>A	ENST00000338821.5	-	15	1858	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	ATP9A_ENST00000311637.5_Nonsense_Mutation_p.Q396*|ATP9A_ENST00000402822.1_Nonsense_Mutation_p.Q411*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	532					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|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)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCAGGATCTGGTCGCCAGGG	0.517											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000054793						165	137	147					20																	50255956		2203	4300	6503	ATP9A	SO:0001587	stop_gained	0			-	HGNC	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1594C>T	20.37:g.50255956G>A	ENSP00000342481:p.Gln532*	Somatic	0	53	0	968	0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	31	44.64	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Nonsense_Mutation	SNP	25	0	0	46	33.33	23	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Q532*	ENST00000338821.5	37	c.1594	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.293927	0.99127	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	5.32	5.32	0.75619	.	0.084158	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-31.9848	19.0003	0.92830	0.0:0.0:1.0:0.0	.	.	.	.	X	396;532;411	.	ENSP00000309086:Q396X	Q	-	1	0	ATP9A	49689363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.739000	0.98837	2.487000	0.83934	0.655000	0.94253	CAG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.517	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	protein_coding	OTTHUMT00000106494.1	G	NM_006045	-		50255956	-1	no_errors	ENST00000338821	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	50255956	G	A	50255956	4	1	159	1	0	0	0	0	0	1	0	0	1198	1357	47	2	1605	2	ATP9A	20	50255956	Nonsense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	47109693	50255956	12769564	96	11456											
ZNF831	128611	genome.wustl.edu	37	chr20	57829403	57829403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccctcttgccagggagaCcttcatctggacaaagaatt	9	11	3	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr20:57829403C>T	ENST00000371030.2	+	5	4639	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1547							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCAGGGAGACCTTCATCTGG	0.498																																																	0								ENSG00000124203						41	44	43					20																	57829403		1996	4183	6179	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4639C>T	20.37:g.57829403C>T	ENSP00000360069:p.Pro1547Ser	Somatic	0	25	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	36	2.7	1	34	33.33	17	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1547S	ENST00000371030.2	37	c.4639	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	5.855	0.342013	0.11069	.	.	ENSG00000124203	ENST00000371030	T	0.07216	3.21	5.33	-0.295	0.12828	.	1.070090	0.07267	N	0.868406	T	0.05914	0.0154	L	0.35723	1.085	0.09310	N	1	B	0.24721	0.11	B	0.23150	0.044	T	0.44907	-0.9297	10	0.27082	T	0.32	0.548	1.1336	0.01750	0.1576:0.4283:0.1532:0.2608	.	1547	Q5JPB2	ZN831_HUMAN	S	1547	ENSP00000360069:P1547S	ENSP00000360069:P1547S	P	+	1	0	ZNF831	57262798	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.511000	0.06321	0.068000	0.16574	0.650000	0.86243	CCT	-	NULL		0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	C	NM_178457	-		57829403	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	57829403	C	T	57829403	3	4	159	1	0	0	0	0	1	0	0	0	18192	507	18	2	4657	2	ZNF831	20	57829403	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	7573447	57829403	5196117	97	11457											
DGCR2	9993	genome.wustl.edu	37	chr22	19050736	19050736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgaatgccacctcccagcGaccttccaaggagcggttcc	9	15	0	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chr22:19050736G>A	ENST00000263196.7	-	5	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	DGCR2_ENST00000537045.1_Missense_Mutation_p.R161C|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_Missense_Mutation_p.R199C	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACCTCCCAGCGACCTTCCAAG	0.587																																																	0								ENSG00000070413						114	88	97					22																	19050736		2203	4300	6503	DGCR2	SO:0001583	missense	0			-	HGNC	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.604C>T	22.37:g.19050736G>A	ENSP00000263196:p.Arg202Cys	Somatic	0	27	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	39	0	0	27	34.15	14	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.R202C	ENST00000263196.7	37	c.604	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011039	0.93346	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;T;T	0.19394	2.15;2.15;2.15	5.66	5.66	0.87406	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.399207	0.32081	N	0.006611	T	0.33702	0.0872	L	0.46157	1.445	0.80722	D	1	D;D	0.63880	0.993;0.978	P;P	0.51945	0.685;0.591	T	0.02226	-1.1192	10	0.72032	D	0.01	.	19.3521	0.94393	0.0:0.0:1.0:0.0	.	158;202	B7Z3T5;P98153	.;IDD_HUMAN	C	161;202;199;202	ENSP00000440062:R161C;ENSP00000263196:R202C;ENSP00000445069:R199C	ENSP00000263196:R202C	R	-	1	0	DGCR2	17430736	1.000000	0.71417	0.964000	0.40570	0.720000	0.41350	9.697000	0.98697	2.667000	0.90743	0.563000	0.77884	CGC	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.587	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	protein_coding	OTTHUMT00000316504.1	G	NM_005137	-		19050736	-1	no_errors	ENST00000263196	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19050736	G	A	19050736	3	1	159	1	0	0	0	0	1	0	0	0	4463	1058	37	1	1072	1	DGCR2	22	19050736	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09		19050736	32253830	98	11458											
MED14	9282	genome.wustl.edu	37	chrX	40573854	40573854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaatggcatatgggatggCaaaactaggcaggcgtgcat	13	7	1	0			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chrX:40573854C>T	ENST00000324817.1	-	4	575	c.457G>A	c.(457-459)Gcc>Acc	p.A153T		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	153					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)			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						TATGGGATGGCAAAACTAGGC	0.493																																																	0								ENSG00000180182						130	96	108					X																	40573854		2203	4300	6503	MED14	SO:0001583	missense	0			-	HGNC	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.457G>A	X.37:g.40573854C>T	ENSP00000323720:p.Ala153Thr	Somatic	0	53	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	33	0	0	54	25.00	18	pfam_Mediator_Med14	p.A153T	ENST00000324817.1	37	c.457	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626350	0.87560	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	L	0.29908	0.895	0.80722	D	1	P	0.43633	0.813	P	0.48166	0.569	T	0.58662	-0.7597	9	0.46703	T	0.11	.	18.2797	0.90094	0.0:1.0:0.0:0.0	.	153	O60244	MED14_HUMAN	T	153	.	ENSP00000323720:A153T	A	-	1	0	MED14	40458798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.254000	0.74563	0.529000	0.55759	GCC	-	pfam_Mediator_Med14		0.493	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	C	NM_004229	-		40573854	-1	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40573854	C	T	40573854	3	4	159	1	0	0	0	0	1	0	0	0	9434	710	25	2	4019	2	MED14	23	40573854	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09		40573854	114696706	99	11459											
ERAS	3266	genome.wustl.edu	37	chrX	48688009	48688009	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaccttgtgaccactgCtggagatgctcatgccgctg	13	11	1	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chrX:48688009C>G	ENST00000338270.1	+	1	727	c.476C>G	c.(475-477)gCt>gGt	p.A159G	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	159					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GTGACCACTGCTGGAGATGCT	0.642																																																	0								ENSG00000187682						32	27	29					X																	48688009		2202	4300	6502	ERAS	SO:0001583	missense	0			-	HGNC	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.476C>G	X.37:g.48688009C>G	ENSP00000339136:p.Ala159Gly	Somatic	0	67	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	50	26.47		Missense_Mutation	SNP	31	0	0	43	29.51	18	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A159G	ENST00000338270.1	37	c.476	CCDS35246.1	X	.	.	.	.	.	.	.	.	.	.	c	5.114	0.206625	0.09704	.	.	ENSG00000187682	ENST00000338270	T	0.77098	-1.07	4.66	3.8	0.43715	Small GTP-binding protein domain (1);	0.699216	0.11652	N	0.542706	T	0.62048	0.2396	N	0.16233	0.39	0.09310	N	1	P	0.34587	0.458	B	0.34824	0.19	T	0.56189	-0.8020	10	0.87932	D	0	.	5.8001	0.18410	0.0:0.6999:0.1926:0.1075	.	159	Q7Z444	RASE_HUMAN	G	159	ENSP00000339136:A159G	ENSP00000339136:A159G	A	+	2	0	ERAS	48572953	0.334000	0.24739	0.002000	0.10522	0.002000	0.02628	1.863000	0.39459	1.096000	0.41439	0.597000	0.82753	GCT	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.642	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAS	protein_coding	OTTHUMT00000132402.1	C	NM_181532	-		48688009	1	no_errors	ENST00000338270	ensembl	human	known	74_37	missense	SNP	0.003	G	G	48688009	C	G	48688009	3	3	159	1	0	0	0	0	1	0	0	0	5207	797	28	4	478	4	ERAS	23	48688009	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	8114155	48688009	106582551	100	11460											
MAGED1	9500	genome.wustl.edu	37	chrX	51640322	51640322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaataagttggtcaagTacttgatgcttaaggactac	10	6	1	1			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chrX:51640322T>C	ENST00000375722.1	+	5	1693	c.1441T>C	c.(1441-1443)Tac>Cac	p.Y481H	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.Y537H|MAGED1_ENST00000326587.7_Missense_Mutation_p.Y481H|MAGED1_ENST00000375772.3_Missense_Mutation_p.Y481H			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	481	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GTTGGTCAAGTACTTGATGCT	0.423										Multiple Myeloma(10;0.10)																																							0								ENSG00000179222						93	72	79					X																	51640322		2203	4300	6503	MAGED1	SO:0001583	missense	0			-	HGNC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1441T>C	X.37:g.51640322T>C	ENSP00000364874:p.Tyr481His	Somatic	0	43	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	24	0	0	50	26.47	18	pfam_MAGE,pfscan_MAGE	p.Y537H	ENST00000375722.1	37	c.1609	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790274	0.31685	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	3.54	2.37	0.29283	.	0.000000	0.34314	N	0.004066	T	0.09862	0.0242	M	0.73372	2.23	0.36454	D	0.866265	B;B	0.13594	0.008;0.003	B;B	0.15052	0.012;0.007	T	0.07214	-1.0784	10	0.87932	D	0	.	4.7164	0.12898	0.0:0.1466:0.0:0.8534	.	537;481	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	H	481;481;481;537	ENSP00000364927:Y481H;ENSP00000364874:Y481H;ENSP00000325333:Y481H;ENSP00000364847:Y537H	ENSP00000325333:Y481H	Y	+	1	0	MAGED1	51657062	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	4.099000	0.57755	0.570000	0.29347	0.350000	0.21858	TAC	-	pfam_MAGE,pfscan_MAGE		0.423	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	protein_coding	OTTHUMT00000056593.1	T	NM_001005332	-		51640322	1	no_errors	ENST00000375695	ensembl	human	known	74_37	missense	SNP	0.998	C	C	51640322	T	C	51640322	3	2	159	1	0	0	0	0	1	0	0	0	9185	1638	57	5	1627	5	MAGED1	23	51640322	Missense_Mutation	SNP	T	TCGA-IS-A3K7-01A-11D-A21Q-09	2952313	51640322	103630238	101	11461											
TEX11	56159	genome.wustl.edu	37	chrX	69843849	69843849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggaagaagaaaacgaaGcaaacacctgtatgacaaag	9	6	0	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chrX:69843849G>A	ENST00000395889.2	-	21	1902	c.1747C>T	c.(1747-1749)Ctt>Ttt	p.L583F	TEX11_ENST00000374320.2_Missense_Mutation_p.L258F|TEX11_ENST00000344304.3_Missense_Mutation_p.L583F|TEX11_ENST00000374333.2_Missense_Mutation_p.L568F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	583					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGAAAACGAAGCAAACACCTG	0.328																																																	0								ENSG00000120498						91	88	89					X																	69843849		2203	4299	6502	TEX11	SO:0001583	missense	0			-	HGNC	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1747C>T	X.37:g.69843849G>A	ENSP00000379226:p.Leu583Phe	Somatic	0	58	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	40	0	0	72	0.00	0	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.L583F	ENST00000395889.2	37	c.1747	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.569041	0.00895	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.78	-6.25	0.02039	.	0.546766	0.17688	N	0.165367	T	0.06416	0.0165	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35201	-0.9798	9	.	.	.	.	0.6603	0.00842	0.21:0.1457:0.2101:0.4342	.	568;583	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	F	568;583;258;583	ENSP00000363453:L568F;ENSP00000379226:L583F;ENSP00000363440:L258F;ENSP00000340995:L583F	.	L	-	1	0	TEX11	69760574	0.421000	0.25465	0.003000	0.11579	0.019000	0.09904	-0.258000	0.08733	-1.097000	0.03042	-1.399000	0.01144	CTT	-	NULL		0.328	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	protein_coding	OTTHUMT00000359072.1	G		-		69843849	-1	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	SNP	0.008	A	A	69843849	G	A	69843849	3	1	159	1	0	0	0	0	1	0	0	0	15781	971	34	2	1119	2	TEX11	23	69843849	Missense_Mutation	SNP	G	TCGA-IS-A3K7-01A-11D-A21Q-09	18203527	69843849	85426711	102	11462											
DRP2	1821	genome.wustl.edu	37	chrX	100515140	100515140	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gggagaagggacagactactCcagataccgaggctgcaggt	15	9	0	3			TCGA-IS-A3K7-01A-11D-A21Q-09	TCGA-IS-A3K7-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afee5b10-3dff-4e50-9575-bc9fe20c5dea	71896be3-fce7-4266-b6d8-3e20e38337fd	g.chrX:100515140C>G	ENST00000395209.3	+	23	3258	c.2731C>G	c.(2731-2733)Cca>Gca	p.P911A	DRP2_ENST00000541709.1_Missense_Mutation_p.P833A|DRP2_ENST00000538510.1_Missense_Mutation_p.P911A|DRP2_ENST00000402866.1_Missense_Mutation_p.P911A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	911					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACAGACTACTCCAGATACCGA	0.607																																																	0								ENSG00000102385						92	79	83					X																	100515140		2203	4300	6503	DRP2	SO:0001583	missense	0			-	HGNC	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2731C>G	X.37:g.100515140C>G	ENSP00000378635:p.Pro911Ala	Somatic	0	84	0		0.627177138109586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	75	29.91	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	37	0	0	40	28.57	16	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.P911A	ENST00000395209.3	37	c.2731	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747908	0.30955	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.05786	3.49;3.49;3.39;3.49	4.94	4.94	0.65067	.	0.052152	0.85682	D	0.000000	T	0.06416	0.0165	L	0.48362	1.52	0.43678	D	0.996119	P	0.43024	0.798	B	0.32090	0.14	T	0.44298	-0.9337	10	0.28530	T	0.3	-8.2807	15.5866	0.76489	0.0:1.0:0.0:0.0	.	911	Q13474	DRP2_HUMAN	A	911;911;833;911	ENSP00000385038:P911A;ENSP00000378635:P911A;ENSP00000444752:P833A;ENSP00000441051:P911A	ENSP00000378635:P911A	P	+	1	0	DRP2	100401796	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	3.597000	0.54031	2.037000	0.60232	0.529000	0.55759	CCA	-	pirsf_Dystrophin-related_2		0.607	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	protein_coding	OTTHUMT00000057522.3	C	NM_001939	-		100515140	1	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100515140	C	G	100515140	3	3	159	1	0	0	0	0	1	0	0	0	4766	855	30	4	2813	4	DRP2	23	100515140	Missense_Mutation	SNP	C	TCGA-IS-A3K7-01A-11D-A21Q-09	30671291	100515140	54755420	103	11463											
PLEKHO1	51177	genome.wustl.edu	37	chr1	150131221	150131222	+	Frame_Shift_Ins	INS	-	-	A													cagtctctcccgaccttgggINSaaaaaacagacaaaggggcc							TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr1:150131221_150131222insA	ENST00000369124.4	+	6	1011_1012	c.733_734insA	c.(733-735)gaafs	p.E245fs	PLEKHO1_ENST00000025469.6_Frame_Shift_Ins_p.E211fs|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Frame_Shift_Ins_p.E62fs	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	245	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGACCTTGGGAAAAAACAGAC	0.639																																																	0								ENSG00000023902																																			PLEKHO1	SO:0001589	frameshift_variant	0				HGNC	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.739dupA	1.37:g.150131227_150131227dupA	ENSP00000358120:p.Glu245fs	Somatic	0	36	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Frame_Shift_Ins	INS							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T213fs	ENST00000369124.4	37	c.631_632	CCDS945.1	1																																																																																			-	NULL		0.639	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	protein_coding	OTTHUMT00000034962.1	-	NM_016274			150131222	1	no_errors	ENST00000025469	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:0.887	A	A	150131222	-	A	150131221	7	5	160	1	0	1	1	0	0	0	0	0	12086	1175	41	0	755	0	PLEKHO1	1	150131221	Frame_Shift_Ins	INS	-	TCGA-IS-A3K8-01A-11D-A21Q-09		150131221	99119400	1	11464											
HRNR	388697	genome.wustl.edu	37	chr1	152189237	152189237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagacccatgttggccactgCtggaagaccgaccggagcca	12	14	0	2	rs200543988	byFrequency	TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr1:152189237C>G	ENST00000368801.2	-	3	4943	c.4868G>C	c.(4867-4869)aGc>aCc	p.S1623T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1623					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCACTGCTGGAAGACCG	0.617																																																	0								ENSG00000197915						5	1	3					1																	152189237		494	616	1110	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.4868G>C	1.37:g.152189237C>G	ENSP00000357791:p.Ser1623Thr	Somatic	0	16	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S1623T	ENST00000368801.2	37	c.4868	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558245	0.13436	.	.	ENSG00000197915	ENST00000368801	T	0.05199	3.48	4.35	-1.7	0.08159	.	.	.	.	.	T	0.01254	0.0041	L	0.48642	1.525	0.09310	N	1	B	0.30281	0.275	B	0.18263	0.021	T	0.46965	-0.9153	9	0.12766	T	0.61	.	6.3832	0.21546	0.0:0.3868:0.4467:0.1665	.	1623	Q86YZ3	HORN_HUMAN	T	1623	ENSP00000357791:S1623T	ENSP00000357791:S1623T	S	-	2	0	HRNR	150455861	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.035000	0.12205	-0.146000	0.11274	-0.241000	0.12123	AGC	-	NULL		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	rs200543988		152189237	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	G	G	152189237	C	G	152189237	3	3	160	1	0	0	0	0	1	0	0	0	7361	797	28	4	3688	4	HRNR	1	152189237	Missense_Mutation	SNP	C	TCGA-IS-A3K8-01A-11D-A21Q-09	2058016	152189237	97061384	2	11465											
RNF123	63891	genome.wustl.edu	37	chr3	49749965	49749965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcctgcggaccattgaGcacggtgatcgcacagggtc	14	12	1	2			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr3:49749965G>T	ENST00000327697.6	+	27	2694	c.2550G>T	c.(2548-2550)gaG>gaT	p.E850D	RNF123_ENST00000432042.1_Missense_Mutation_p.E704D|RNF123_ENST00000433785.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	850					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGACCATTGAGCACGGTGATC	0.592																																																	0								ENSG00000164068						144	109	121					3																	49749965		2203	4300	6503	RNF123	SO:0001583	missense	0			-	HGNC	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2550G>T	3.37:g.49749965G>T	ENSP00000328287:p.Glu850Asp	Somatic	0	37	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP							pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E850D	ENST00000327697.6	37	c.2550	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498592	0.64298	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76839	-0.75;-1.05	5.91	5.03	0.67393	.	0.047408	0.85682	D	0.000000	D	0.82536	0.5058	L	0.47716	1.5	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.83123	-0.0117	10	0.59425	D	0.04	-31.0211	10.3739	0.44071	0.148:0.0:0.852:0.0	.	704;850	C9J266;Q5XPI4	.;RN123_HUMAN	D	850;850;704	ENSP00000328287:E850D;ENSP00000392443:E704D	ENSP00000328287:E850D	E	+	3	2	RNF123	49724969	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	3.153000	0.50685	1.513000	0.48852	-0.145000	0.13849	GAG	-	NULL		0.592	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	protein_coding	OTTHUMT00000346475.2	G	NM_022064	-		49749965	1	no_errors	ENST00000327697	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49749965	G	T	49749965	3	4	160	1	0	0	0	0	1	0	0	0	13441	962	34	3	2652	3	RNF123	3	49749965	Missense_Mutation	SNP	G	TCGA-IS-A3K8-01A-11D-A21Q-09		49749965	148272465	3	11466											
NLGN1	22871	genome.wustl.edu	37	chr3	173322871	173322871	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatttaaatatatatgtcccGactgaggatggtgagtttat	9	4	0	2			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr3:173322871G>T	ENST00000457714.1	+	3	912	c.483G>T	c.(481-483)ccG>ccT	p.P161P	NLGN1_ENST00000361589.4_Silent_p.P161P|NLGN1_ENST00000401917.3_Silent_p.P161P|NLGN1_ENST00000545397.1_Silent_p.P161P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	161					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATATGTCCCGACTGAGGATG	0.338																																																	0								ENSG00000169760						70	74	72					3																	173322871		2203	4300	6503	NLGN1	SO:0001819	synonymous_variant	0			-	HGNC	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.483G>T	3.37:g.173322871G>T		Somatic	0	26	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q9UPT2	Silent	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P161	ENST00000457714.1	37	c.483	CCDS3222.1	3																																																																																			-	pfam_CarbesteraseB		0.338	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	protein_coding	OTTHUMT00000347054.3	G	NM_014932	-		173322871	1	no_errors	ENST00000401917	ensembl	human	known	74_37	silent	SNP	0.978	T	T	173322871	G	T	173322871	2	4	160	1	0	0	0	0	0	0	0	1	10463	1045	37	3		3	NLGN1	3	173322871	Silent	SNP	G	TCGA-IS-A3K8-01A-11D-A21Q-09	123572906	173322871	24699559	4	11467											
CLNK	116449	genome.wustl.edu	37	chr4	10560071	10560071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtccttggaaatgggtttGtccacctgtacaagacaatg	10	9	0	1			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr4:10560071G>T	ENST00000226951.6	-	8	644	c.405C>A	c.(403-405)gaC>gaA	p.D135E	CLNK_ENST00000442825.2_Missense_Mutation_p.D93E|CLNK_ENST00000507719.1_Missense_Mutation_p.D93E	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	135					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AAATGGGTTTGTCCACCTGTA	0.373																																					GBM(87;402 1286 6949 13902 35851)												0								ENSG00000109684						199	190	193					4																	10560071		1933	4137	6070	CLNK	SO:0001583	missense	0			-	HGNC	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.405C>A	4.37:g.10560071G>T	ENSP00000226951:p.Asp135Glu	Somatic	0	58	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	Q05C27|Q9P2U9	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.D135E	ENST00000226951.6	37	c.405	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	G	7.302	0.613151	0.14066	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.44881	1.97;0.91;0.91	4.53	-0.91	0.10511	.	3.191980	0.00664	N	0.000614	T	0.28001	0.0690	N	0.20986	0.625	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.19391	0.025;0.002	T	0.09997	-1.0649	10	0.30854	T	0.27	-5.734	2.9898	0.05980	0.0914:0.1427:0.2956:0.4702	.	93;135	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	E	135;135;93;93	ENSP00000226951:D135E;ENSP00000390744:D93E;ENSP00000427208:D93E	ENSP00000226951:D135E	D	-	3	2	CLNK	10169169	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	0.128000	0.15810	-0.027000	0.13873	0.551000	0.68910	GAC	-	NULL		0.373	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	protein_coding	OTTHUMT00000359047.1	G	NM_052964	-		10560071	-1	no_errors	ENST00000226951	ensembl	human	known	74_37	missense	SNP	0.000	T	T	10560071	G	T	10560071	3	4	160	1	0	0	0	0	1	0	0	0	3549	1368	48	3	929	3	CLNK	4	10560071	Missense_Mutation	SNP	G	TCGA-IS-A3K8-01A-11D-A21Q-09		10560071	180594205	5	11468											
FPGS	2356	genome.wustl.edu	37	chr9	130573242	130573242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccctgccagtttgactatGccgtcttctgccctaacctg	8	15	2	1			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr9:130573242G>T	ENST00000373247.2	+	14	1356	c.1306G>T	c.(1306-1308)Gcc>Tcc	p.A436S	FPGS_ENST00000373225.3_Missense_Mutation_p.A386S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.A410S|FPGS_ENST00000373245.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	436					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTTTGACTATGCCGTCTTCTG	0.592																																																	0								ENSG00000136877						58	41	47					9																	130573242		2200	4299	6499	FPGS	SO:0001583	missense	0			-	HGNC		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1306G>T	9.37:g.130573242G>T	ENSP00000362344:p.Ala436Ser	Somatic	0	31	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP							superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.A436S	ENST00000373247.2	37	c.1306	CCDS35148.1	9	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784500	0.70222	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.43688	0.94;0.94;0.94	5.27	4.38	0.52667	Mur ligase, C-terminal (1);	0.164005	0.53938	D	0.000051	T	0.60586	0.2280	M	0.90019	3.08	0.80722	D	1	P;P	0.45428	0.858;0.55	P;B	0.49999	0.628;0.389	T	0.68062	-0.5508	10	0.52906	T	0.07	-24.6971	12.9822	0.58570	0.0785:0.0:0.9215:0.0	.	410;436	Q05932-4;Q05932	.;FOLC_HUMAN	S	436;410;386	ENSP00000362344:A436S;ENSP00000377309:A410S;ENSP00000362322:A386S	ENSP00000362322:A386S	A	+	1	0	FPGS	129613063	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.185000	0.65076	1.250000	0.43966	0.555000	0.69702	GCC	-	superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth		0.592	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	protein_coding	OTTHUMT00000054251.1	G		-		130573242	1	no_errors	ENST00000373247	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130573242	G	T	130573242	3	4	160	1	0	0	0	0	1	0	0	0	6038	1319	46	3	1360	3	FPGS	9	130573242	Missense_Mutation	SNP	G	TCGA-IS-A3K8-01A-11D-A21Q-09		130573242	10640189	6	11469											
SARDH	1757	genome.wustl.edu	37	chr9	136584131	136584131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttggaggcggaggtagaCagaggcatcatgatcacgga	15	9	2	3			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr9:136584131C>A	ENST00000371872.4	-	7	1206	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	SARDH_ENST00000422262.2_Missense_Mutation_p.V149F|SARDH_ENST00000439388.1_Missense_Mutation_p.V317F|SARDH_ENST00000371867.1_Missense_Mutation_p.V228F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	317					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGGAGGTAGACAGAGGCATCA	0.582																																																	0								ENSG00000123453						145	121	129					9																	136584131		2203	4300	6503	SARDH	SO:0001583	missense	0			-	HGNC		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.949G>T	9.37:g.136584131C>A	ENSP00000360938:p.Val317Phe	Somatic	0	56	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	48	36.84	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.V317F	ENST00000371872.4	37	c.949	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766615	0.69878	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.43	2.56	0.30785	FAD dependent oxidoreductase (1);	0.071516	0.56097	D	0.000036	T	0.75867	0.3908	L	0.28115	0.83	0.80722	D	1	P	0.49447	0.924	P	0.57468	0.821	T	0.74734	-0.3565	10	0.62326	D	0.03	-29.3741	10.4602	0.44575	0.0:0.8368:0.0:0.1632	.	317	Q9UL12	SARDH_HUMAN	F	317;317;149;317;317;317;228;295	ENSP00000360938:V317F;ENSP00000403084:V317F;ENSP00000415537:V149F;ENSP00000360933:V228F	ENSP00000360933:V228F	V	-	1	0	SARDH	135573952	1.000000	0.71417	0.421000	0.26609	0.961000	0.63080	4.661000	0.61518	0.324000	0.23333	0.462000	0.41574	GTC	-	pfam_FAD-dep_OxRdtase		0.582	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	protein_coding	OTTHUMT00000054931.1	C		-		136584131	-1	no_errors	ENST00000371872	ensembl	human	known	74_37	missense	SNP	0.992	A	A	136584131	C	A	136584131	3	1	160	1	0	0	0	0	1	0	0	0	13849	478	17	3	1867	3	SARDH	9	136584131	Missense_Mutation	SNP	C	TCGA-IS-A3K8-01A-11D-A21Q-09	6010889	136584131	4629300	7	11470											
ARRB1	408	genome.wustl.edu	37	chr11	74978736	74978736	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attggtatctactggcgtctCgttctctggaactaaacaca	8	10	3	0	rs368013804		TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr11:74978736C>A	ENST00000420843.2	-	15	1202	c.1105G>T	c.(1105-1107)Gag>Tag	p.E369*	ARRB1_ENST00000360025.3_Nonsense_Mutation_p.E361*|ARRB1_ENST00000393505.4_Nonsense_Mutation_p.E369*|CTD-2562J17.9_ENST00000529304.1_RNA	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	369	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						ACTGGCGTCTCGTTCTCTGGA	0.602																																																	0								ENSG00000137486						54	51	52					11																	74978736		2200	4293	6493	ARRB1	SO:0001587	stop_gained	0			-	HGNC	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1105G>T	11.37:g.74978736C>A	ENSP00000409581:p.Glu369*	Somatic	0	67	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Nonsense_Mutation	SNP							pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.E369*	ENST00000420843.2	37	c.1105	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.881324	0.97062	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025	.	.	.	5.15	4.24	0.50183	.	0.255939	0.28600	N	0.014774	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-27.4902	16.6933	0.85327	0.0:0.8672:0.1328:0.0	.	.	.	.	X	369;369;361	.	ENSP00000353124:E361X	E	-	1	0	ARRB1	74656384	1.000000	0.71417	0.962000	0.40283	0.899000	0.52679	4.240000	0.58701	0.690000	0.31570	-1.268000	0.01426	GAG	-	superfamily_Ig_E-set		0.602	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	protein_coding	OTTHUMT00000384092.3	C	NM_004041	-		74978736	-1	no_errors	ENST00000393505	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	74978736	C	A	74978736	4	1	160	1	0	0	0	0	0	1	0	0	980	893	31	3	159	3	ARRB1	11	74978736	Nonsense_Mutation	SNP	C	TCGA-IS-A3K8-01A-11D-A21Q-09		74978736	60027780	8	11471											
C11orf30	56946	genome.wustl.edu	37	chr11	76237559	76237559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccagctatccttacTgctacaagacccatcaccaa	5	15	1	1			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr11:76237559T>C	ENST00000529032.1	+	12	1875	c.1875T>C	c.(1873-1875)acT>acC	p.T625T	C11orf30_ENST00000525038.1_Silent_p.T640T|C11orf30_ENST00000343878.3_Silent_p.T625T|C11orf30_ENST00000334736.3_Silent_p.T625T|C11orf30_ENST00000533248.1_Silent_p.T639T|C11orf30_ENST00000524767.1_Silent_p.T640T|C11orf30_ENST00000525919.1_Silent_p.T626T|C11orf30_ENST00000524490.1_Silent_p.T541T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	625	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTATCCTTACTGCTACAAGAC	0.363																																																	0								ENSG00000158636						122	107	112					11																	76237559		2200	4292	6492	C11orf30	SO:0001819	synonymous_variant	0			-	HGNC	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1875T>C	11.37:g.76237559T>C		Somatic	0	30	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP							pfam_ENT_N,pfscan_ENT_N	p.T625	ENST00000529032.1	37	c.1875	CCDS8244.1	11																																																																																			-	NULL		0.363	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	protein_coding	OTTHUMT00000383288.2	T	NM_020193	-		76237559	1	no_errors	ENST00000334736	ensembl	human	known	74_37	silent	SNP	1.000	C	C	76237559	T	C	76237559	2	2	160	1	0	0	0	0	0	0	0	1	1638	1567	55	5		5	C11orf30	11	76237559	Silent	SNP	T	TCGA-IS-A3K8-01A-11D-A21Q-09	1258823	76237559	58768957	9	11472											
SIK3	23387	genome.wustl.edu	37	chr11	116728998	116728998	+	Frame_Shift_Del	DEL	T	T	-													ctgaacagttcctggtattcTtgctgttgctgctgttgctg					rs536178660	byFrequency	TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr11:116728998delT	ENST00000292055.4	-	20	2900	c.2865delA	c.(2863-2865)caafs	p.Q955fs	SIK3_ENST00000375288.1_Frame_Shift_Del_p.Q290fs|SIK3_ENST00000375300.1_Frame_Shift_Del_p.Q1013fs|SIK3_ENST00000542607.1_Frame_Shift_Del_p.Q895fs|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Frame_Shift_Del_p.Q953fs|SIK3_ENST00000434315.2_Frame_Shift_Del_p.Q794fs|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	955	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCTGGTATTCTtgctgttgct	0.577																																																	0								ENSG00000160584						47	45	46					11																	116728998		2201	4296	6497	SIK3	SO:0001589	frameshift_variant	0				HGNC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2865delA	11.37:g.116728998delT	ENSP00000292055:p.Gln955fs	Somatic	0	63	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.E1014fs	ENST00000292055.4	37	c.3039	CCDS8379.1	11																																																																																			-	NULL		0.577	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	protein_coding		T	NM_025164			116728998	-1	no_errors	ENST00000375300	ensembl	human	known	74_37	frame_shift_del	DEL	0.195	-	-	116728998	T	-	116728998	7	5	160	1	0	1	0	1	0	0	0	0	14327	1606	56	0	942	0	SIK3	11	116728998	Frame_Shift_Del	DEL	T	TCGA-IS-A3K8-01A-11D-A21Q-09	40491439	116728998	18277518	10	11473											
KBTBD7	84078	genome.wustl.edu	37	chr13	41767967	41767967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaggccgcgtacaggcGctgcacattggcctcactga	14	13	1	1			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr13:41767967G>A	ENST00000379483.3	-	1	735	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	143										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGTACAGGCGCTGCACATTG	0.602																																																	0								ENSG00000120696						118	96	103					13																	41767967		2203	4300	6503	KBTBD7	SO:0001583	missense	0			-	HGNC	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.427C>T	13.37:g.41767967G>A	ENSP00000368797:p.Arg143Cys	Somatic	0	36	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	24	48.94	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R143C	ENST00000379483.3	37	c.427	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728555	0.48833	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.71341	-0.56	4.79	4.79	0.61399	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	T	0.79581	0.4470	L	0.54323	1.7	0.54753	D	0.999982	D	0.89917	1.0	D	0.65773	0.938	T	0.79848	-0.1630	10	0.46703	T	0.11	.	15.6538	0.77118	0.0:0.0:1.0:0.0	.	143	Q8WVZ9	KBTB7_HUMAN	C	143;45	ENSP00000368797:R143C	ENSP00000368797:R143C	R	-	1	0	KBTBD7	40665967	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.324000	0.33712	2.343000	0.79666	0.563000	0.77884	CGC	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.602	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	protein_coding	OTTHUMT00000044660.1	G	NM_032138	-		41767967	-1	no_errors	ENST00000379483	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41767967	G	A	41767967	3	1	160	1	0	0	0	0	1	0	0	0	8000	1087	38	1	1631	1	KBTBD7	13	41767967	Missense_Mutation	SNP	G	TCGA-IS-A3K8-01A-11D-A21Q-09		41767967	73401911	11	11474											
RNF111	54778	genome.wustl.edu	37	chr15	59323560	59323560	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaagccatagtgcacGgtctcataagtggcctcgga	12	9	1	1			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr15:59323560G>C	ENST00000557998.1	+	2	826	c.539G>C	c.(538-540)cGg>cCg	p.R180P	RNF111_ENST00000348370.4_Missense_Mutation_p.R180P|RNF111_ENST00000561186.1_Missense_Mutation_p.R180P|RNF111_ENST00000559209.1_Missense_Mutation_p.R180P|RNF111_ENST00000434298.1_Missense_Mutation_p.R180P	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	180					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)			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)		CATAGTGCACGGTCTCATAAG	0.428																																					NSCLC(72;983 1365 10746 34387 47081)												0								ENSG00000157450						96	91	93					15																	59323560		2192	4291	6483	RNF111	SO:0001583	missense	0			-	HGNC	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.539G>C	15.37:g.59323560G>C	ENSP00000452732:p.Arg180Pro	Somatic	0	35	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R180P	ENST00000557998.1	37	c.539	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592668	0.86953	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.20200	2.09;2.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.39522	-0.9610	10	0.66056	D	0.02	.	18.8745	0.92329	0.0:0.0:1.0:0.0	.	180;180;180	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	P	180	ENSP00000288199:R180P;ENSP00000393641:R180P	ENSP00000288199:R180P	R	+	2	0	RNF111	57110852	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.910000	0.63321	2.688000	0.91661	0.650000	0.86243	CGG	-	NULL		0.428	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	protein_coding	OTTHUMT00000416012.1	G	NM_017610	-		59323560	1	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	SNP	1.000	C	C	59323560	G	C	59323560	3	2	160	1	0	0	0	0	1	0	0	0	13433	1116	39	4	541	4	RNF111	15	59323560	Missense_Mutation	SNP	G	TCGA-IS-A3K8-01A-11D-A21Q-09		59323560	43207832	12	11475											
MARK4	57787	genome.wustl.edu	37	chr19	45783712	45783712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacaacgaagtgaccgccAcctacctcctgctgggcagg	11	14	0	1			TCGA-IS-A3K8-01A-11D-A21Q-09	TCGA-IS-A3K8-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6561d745-a655-499e-b74b-4f471d9899b7	b123395c-9192-4f50-a4c5-2f9fe3706427	g.chr19:45783712A>G	ENST00000262891.4	+	11	1418	c.1087A>G	c.(1087-1089)Acc>Gcc	p.T363A	MARK4_ENST00000300843.4_Missense_Mutation_p.T363A	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	363	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGTGACCGCCACCTACCTCCT	0.617																																																	0								ENSG00000007047						112	110	111					19																	45783712		2203	4300	6503	MARK4	SO:0001583	missense	0			-	HGNC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1087A>G	19.37:g.45783712A>G	ENSP00000262891:p.Thr363Ala	Somatic	0	52	0		0.605889194092417				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	45	49.45	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.T363A	ENST00000262891.4	37	c.1087	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795223	0.70452	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.19806	2.12;2.12	5.16	5.16	0.70880	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.66439	2.03	0.80722	D	1	P;B;B	0.38711	0.643;0.36;0.171	P;B;B	0.55455	0.776;0.329;0.119	T	0.27365	-1.0076	10	0.72032	D	0.01	.	12.9784	0.58549	1.0:0.0:0.0:0.0	.	229;363;363	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	A	393;363;363	ENSP00000262891:T363A;ENSP00000300843:T363A	ENSP00000262891:T363A	T	+	1	0	MARK4	50475552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.959000	0.93110	2.174000	0.68829	0.459000	0.35465	ACC	-	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.617	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	protein_coding	OTTHUMT00000457537.1	A	NM_031417	-		45783712	1	no_errors	ENST00000262891	ensembl	human	known	74_37	missense	SNP	1.000	G	G	45783712	A	G	45783712	3	3	160	1	0	0	0	0	1	0	0	0	9317	159	6	5	1129	5	MARK4	19	45783712	Missense_Mutation	SNP	A	TCGA-IS-A3K8-01A-11D-A21Q-09		45783712	13345271	13	11476											
PTPRU	10076	genome.wustl.edu	37	chr1	29630536	29630536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagacggccgagggttaCggcttcaagcaggagtatga	15	7	1	3	rs137880682		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr1:29630536C>T	ENST00000345512.3	+	17	2805	c.2676C>T	c.(2674-2676)taC>taT	p.Y892Y	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.Y882Y|PTPRU_ENST00000356870.3_Silent_p.Y882Y|PTPRU_ENST00000460170.2_Silent_p.Y882Y|PTPRU_ENST00000373779.3_Silent_p.Y882Y|PTPRU_ENST00000323874.8_Silent_p.Y882Y	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	892	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCGAGGGTTACGGCTTCAAGC	0.647																																																	0								ENSG00000060656	C	,,,	2,4404	4.2+/-10.8	0,2,2201	44	46	45		2646,2676,2646,2646	-4.5	0.9	1	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	882/1434,892/1447,882/1441,882/1437	29630536	2,13004	2203	4300	6503	PTPRU	SO:0001819	synonymous_variant	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2676C>T	1.37:g.29630536C>T		Somatic	0	36	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	26	0	0	43	12.24	6	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Y892	ENST00000345512.3	37	c.2676	CCDS334.1	1																																																																																			-	NULL		0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	C		rs137880682		29630536	1	no_errors	ENST00000345512	ensembl	human	known	74_37	silent	SNP	0.935	T	T	29630536	C	T	29630536	2	4	161	1	0	0	0	0	0	0	0	1	12821	547	19	1		1	PTPRU	1	29630536	Silent	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		29630536	219620085	1	11477											
CYP4Z1	199974	genome.wustl.edu	37	chr1	47583592	47583592	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggaatccatgtgtttgcaAaaaaagtttgctaattttaa	7	4	0	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr1:47583592A>T	ENST00000334194.3	+	12	1507	c.1504A>T	c.(1504-1506)Aaa>Taa	p.K502*	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	502						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGTGTTTGCAAAAAAAGTTTG	0.383																																																	0								ENSG00000186160						53	47	49					1																	47583592		2203	4300	6503	CYP4Z1	SO:0001587	stop_gained	0			-	HGNC	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1504A>T	1.37:g.47583592A>T	ENSP00000334246:p.Lys502*	Somatic	0	44	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q5VVE4	Nonsense_Mutation	SNP	50	0	0	43	34.85	23	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.K502*	ENST00000334194.3	37	c.1504	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	a	18.47	3.631623	0.67015	.	.	ENSG00000186160	ENST00000334194	.	.	.	1.23	1.23	0.21249	.	0.154606	0.41823	U	0.000809	.	.	.	.	.	.	0.25997	N	0.982163	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0122	0.30359	1.0:0.0:0.0:0.0	.	.	.	.	X	502	.	ENSP00000334246:K502X	K	+	1	0	CYP4Z1	47356179	0.520000	0.26250	0.006000	0.13384	0.485000	0.33311	0.964000	0.29306	0.847000	0.35167	0.225000	0.17782	AAA	-	superfamily_Cyt_P450		0.383	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	protein_coding	OTTHUMT00000022020.1	A	NM_178134	-		47583592	1	no_errors	ENST00000334194	ensembl	human	known	74_37	nonsense	SNP	0.507	T	T	47583592	A	T	47583592	4	4	161	1	0	0	0	0	0	1	0	0	4196	15	1	5	1550	5	CYP4Z1	1	47583592	Nonsense_Mutation	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09	17953056	47583592	201667029	2	11478											
SSX2IP	117178	genome.wustl.edu	37	chr1	85113279	85113279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcagttatattcagtAcattgattgaactgttggga	9	6	2	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr1:85113279A>G	ENST00000342203.3	-	14	1945	c.1682T>C	c.(1681-1683)gTa>gCa	p.V561A	SSX2IP_ENST00000605755.1_Missense_Mutation_p.V534A|SSX2IP_ENST00000437941.2_Missense_Mutation_p.V534A	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	561					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATATTCAGTACATTGATTGA	0.368																																																	0								ENSG00000117155						148	129	135					1																	85113279		2203	4300	6503	SSX2IP	SO:0001583	missense	0			-	HGNC		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1682T>C	1.37:g.85113279A>G	ENSP00000340279:p.Val561Ala	Somatic	0	50	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	21	58.82	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	25	0	0	9	65.38	17	pfam_Afadin/alpha-actinin-bd	p.V561A	ENST00000342203.3	37	c.1682	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	A	1.961	-0.438958	0.04636	.	.	ENSG00000117155	ENST00000342203;ENST00000437941	T;T	0.49720	0.77;0.77	5.77	-1.2	0.09554	.	0.945322	0.08876	N	0.880748	T	0.10723	0.0262	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.25467	-1.0131	10	0.24483	T	0.36	0.4097	2.0259	0.03519	0.3909:0.1351:0.3429:0.1311	.	561;534	Q9Y2D8;B4DFE3	ADIP_HUMAN;.	A	561;534	ENSP00000340279:V561A;ENSP00000412781:V534A	ENSP00000340279:V561A	V	-	2	0	SSX2IP	84885867	0.002000	0.14202	0.001000	0.08648	0.132000	0.20833	1.007000	0.29860	-0.132000	0.11557	0.533000	0.62120	GTA	-	NULL		0.368	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	protein_coding	OTTHUMT00000027469.1	A	NM_014021	-		85113279	-1	no_errors	ENST00000342203	ensembl	human	known	74_37	missense	SNP	0.000	G	G	85113279	A	G	85113279	3	3	161	1	0	0	0	0	1	0	0	0	15211	391	14	5	166	5	SSX2IP	1	85113279	Missense_Mutation	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09	37529687	85113279	164137342	3	11479											
IQGAP3	128239	genome.wustl.edu	37	chr1	156507018	156507018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctaaaaggaacttatcaGtcatggcgaggaggttgcgt	14	6	2	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr1:156507018G>A	ENST00000361170.2	-	27	3387	c.3377C>T	c.(3376-3378)aCt>aTt	p.T1126I	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1126	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAACTTATCAGTCATGGCGAG	0.572																																																	0								ENSG00000183856						170	142	151					1																	156507018		2203	4300	6503	IQGAP3	SO:0001583	missense	0			-	HGNC	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3377C>T	1.37:g.156507018G>A	ENSP00000354451:p.Thr1126Ile	Somatic	0	78	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	105	23.91	Q5T3H8	Missense_Mutation	SNP	38	0	0	44	16.98	9	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.T1126I	ENST00000361170.2	37	c.3377	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883267	0.91740	.	.	ENSG00000183856	ENST00000361170	T	0.79653	-1.29	4.93	4.93	0.64822	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88594	0.3145	10	0.87932	D	0	-14.6168	16.8795	0.86060	0.0:0.0:1.0:0.0	.	1126	Q86VI3	IQGA3_HUMAN	I	1126	ENSP00000354451:T1126I	ENSP00000354451:T1126I	T	-	2	0	IQGAP3	154773642	1.000000	0.71417	0.339000	0.25562	0.991000	0.79684	9.657000	0.98554	2.566000	0.86566	0.561000	0.74099	ACT	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	protein_coding	OTTHUMT00000080657.1	G	NM_178229	-		156507018	-1	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	SNP	1.000	A	A	156507018	G	A	156507018	3	1	161	1	0	0	0	0	1	0	0	0	7818	1029	36	2	1566	2	IQGAP3	1	156507018	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	71393739	156507018	92743603	4	11480											
TGFBRAP1	9392	genome.wustl.edu	37	chr2	105883847	105883847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccaagcttttcaagtcCgagtgccaggactggatgag	14	9	1	1	rs376885416		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr2:105883847C>T	ENST00000393359.2	-	12	3002	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	AC012360.2_ENST00000595531.1_5'Flank|TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R859Q			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	859					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TTTTCAAGTCCGAGTGCCAGG	0.552																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0								ENSG00000135966	C	GLN/ARG,GLN/ARG	1,4405		0,1,2202	96	83	88		2576,2576	5.5	1	2		88	0,8600		0,0,4300	no	missense,missense	TGFBRAP1	NM_004257.4,NM_001142621.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	859/861,859/861	105883847	1,13005	2203	4300	6503	TGFBRAP1	SO:0001583	missense	0			-	HGNC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2576G>A	2.37:g.105883847C>T	ENSP00000377027:p.Arg859Gln	Somatic	0	32	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	35	0	0	33	32.00	16	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.R859Q	ENST00000393359.2	37	c.2576	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634112	0.67130	2.27E-4	0.0	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.46063	0.88;0.88	5.5	5.5	0.81552	.	0.165679	0.41500	D	0.000870	T	0.28599	0.0708	N	0.22421	0.69	0.30479	N	0.772514	B;B	0.18166	0.026;0.026	B;B	0.08055	0.003;0.003	T	0.18840	-1.0324	10	0.59425	D	0.04	-24.0118	9.6725	0.40021	0.0:0.8403:0.0:0.1597	.	314;859	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	Q	859;859;314	ENSP00000377027:R859Q;ENSP00000258449:R859Q	ENSP00000258449:R859Q	R	-	2	0	TGFBRAP1	105250279	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	2.866000	0.48420	2.590000	0.87494	0.557000	0.71058	CGG	-	NULL		0.552	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	protein_coding	OTTHUMT00000253354.2	C	NM_004257	-		105883847	-1	no_errors	ENST00000258449	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105883847	C	T	105883847	3	4	161	1	0	0	0	0	1	0	0	0	15831	652	23	1	10	1	TGFBRAP1	2	105883847	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		105883847	137315526	5	11481											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209215655	209215655	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcaaatcaggagctgcCttctatgcaactgagggtga	14	8	2	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr2:209215655C>A	ENST00000264380.4	+	37	5753	c.5595C>A	c.(5593-5595)gcC>gcA	p.A1865A		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1865	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CAGGAGCTGCCTTCTATGCAA	0.478																																																	0								ENSG00000115020						90	83	85					2																	209215655		2203	4300	6503	PIKFYVE	SO:0001819	synonymous_variant	0			-	HGNC	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5595C>A	2.37:g.209215655C>A		Somatic	0	81	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	86	14.00	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	45	0	0	48	15.79	9	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.A1865	ENST00000264380.4	37	c.5595	CCDS2382.1	2																																																																																			-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.478	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	protein_coding	OTTHUMT00000256477.2	C	NM_015040	-		209215655	1	no_errors	ENST00000264380	ensembl	human	known	74_37	silent	SNP	0.912	A	A	209215655	C	A	209215655	2	1	161	1	0	0	0	0	0	0	0	1	11926	668	24	3		3	PIKFYVE	2	209215655	Silent	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	103331808	209215655	33983718	6	11482											
ALS2CL	259173	genome.wustl.edu	37	chr3	46716064	46716064	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcttacttctgcacAtccaggaactcgagcagttg	12	10	1	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr3:46716064A>T	ENST00000318962.4	-	21	2504	c.2421T>A	c.(2419-2421)gaT>gaA	p.D807E	ALS2CL_ENST00000383742.3_Missense_Mutation_p.D154E|ALS2CL_ENST00000415953.1_Missense_Mutation_p.D807E	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	807	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACTTCTGCACATCCAGGAACT	0.557																																																	0								ENSG00000178038						193	183	186					3																	46716064		2203	4300	6503	ALS2CL	SO:0001583	missense	0			-	HGNC	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2421T>A	3.37:g.46716064A>T	ENSP00000313670:p.Asp807Glu	Somatic	0	21	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	17	59.52	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	35	0	0	31	45.61	26	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.D807E	ENST00000318962.4	37	c.2421	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242424	0.22796	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.33438	1.41;1.41;1.41	5.28	-10.6	0.00265	Vacuolar sorting protein 9 (1);	0.177007	0.37577	N	0.002025	T	0.12347	0.0300	L	0.31664	0.95	0.24245	N	0.995342	B	0.22541	0.071	B	0.23150	0.044	T	0.05146	-1.0903	10	0.51188	T	0.08	.	2.2986	0.04156	0.2789:0.1764:0.3813:0.1634	.	807	Q60I27	AL2CL_HUMAN	E	807;807;154	ENSP00000313670:D807E;ENSP00000413223:D807E;ENSP00000373248:D154E	ENSP00000313670:D807E	D	-	3	2	ALS2CL	46691068	0.000000	0.05858	0.192000	0.23308	0.724000	0.41520	-2.618000	0.00880	-2.862000	0.00326	-0.331000	0.08364	GAT	-	pfscan_VPS9		0.557	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	protein_coding	OTTHUMT00000250567.3	A	NM_147129	-		46716064	-1	no_errors	ENST00000318962	ensembl	human	known	74_37	missense	SNP	0.031	T	T	46716064	A	T	46716064	3	4	161	1	0	0	0	0	1	0	0	0	551	214	8	5	464	5	ALS2CL	3	46716064	Missense_Mutation	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09		46716064	151306366	7	11483											
PLXNB1	5364	genome.wustl.edu	37	chr3	48462755	48462756	+	Frame_Shift_Ins	INS	-	-	GGCCACA													ggcaggaatatgactcccctINSggccacaggggtggcaggtc							TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr3:48462755_48462756insGGCCACA	ENST00000358536.4	-	8	1960_1961	c.1691_1692insTGTGGCC	c.(1690-1692)ccafs	p.-564fs	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Frame_Shift_Ins_p.-564fs|PLXNB1_ENST00000296440.6_Frame_Shift_Ins_p.-564fs|PLXNB1_ENST00000358459.4_Frame_Shift_Ins_p.-564fs	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1						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)		ATGACTCCCCTGGCCACAGGGG	0.594																																																	0								ENSG00000164050																																			PLXNB1	SO:0001589	frameshift_variant	0				HGNC	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.1685_1691dupTGTGGCC	3.37:g.48462756_48462762dupGGCCACA	ENSP00000351338:p.Pro564fs	Somatic					0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Ins	INS	29	0	0	46	13.21	7	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G565fs	ENST00000358536.4	37	c.1692_1691	CCDS2765.1	3																																																																																			-	NULL		0.594	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	-	NM_002673			48462756	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	frame_shift_ins	INS	0.457:0.965	GGCCACA	GGCCACA	48462756	-	GGCCACA	48462755	7	5	161	1	0	1	1	0	0	0	0	0	12125	1567	55	0	4839	0	PLXNB1	3	48462755	Frame_Shift_Ins	INS	-	TCGA-IS-A3KA-01A-11D-A21Q-09	1746691	48462755	149559675	8	11484											
IDUA	3425	genome.wustl.edu	37	chr4	995781	995781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgcagggtgcgcgcagCtccatctccatcctggagca	12	17	1	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr4:995781C>A	ENST00000247933.4	+	7	892	c.804C>A	c.(802-804)agC>agA	p.S268R	IDUA_ENST00000514224.1_Missense_Mutation_p.S136R|IDUA_ENST00000453894.1_Missense_Mutation_p.L255I	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	268					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGCGCGCAGCTCCATCTCCA	0.711																																																	0								ENSG00000127415						19	20	20					4																	995781		2172	4256	6428	IDUA	SO:0001583	missense	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.804C>A	4.37:g.995781C>A	ENSP00000247933:p.Ser268Arg	Somatic	0	14	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B3KWK6	Missense_Mutation	SNP	22	0	0	37	43.94	29	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.L255I	ENST00000247933.4	37	c.763	CCDS3343.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.612|8.612	0.889279|0.889279	0.17540|0.17540	.|.	.|.	ENSG00000127415|ENSG00000127415	ENST00000453894|ENST00000247933;ENST00000502910;ENST00000514192;ENST00000514224	D|D;D;D;D	0.94497|0.95482	-3.44|-3.72;-3.35;-3.35;-3.72	4.91|4.91	2.19|2.19	0.27852|0.27852	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.273028	.|0.42294	.|D	.|0.000724	D|D	0.88894|0.88894	0.6561|0.6561	L|L	0.38838|0.38838	1.175|1.175	0.21675|0.21675	N|N	0.999598|0.999598	D|B	0.58268|0.31077	0.982|0.307	P|B	0.48738|0.26693	0.588|0.072	T|T	0.76798|0.76798	-0.2826|-0.2826	9|10	0.33141|0.15066	T|T	0.24|0.55	4.9721|4.9721	6.5043|6.5043	0.22186|0.22186	0.0:0.619:0.0:0.381|0.0:0.619:0.0:0.381	.|.	255|268	B3KWK6|P35475	.|IDUA_HUMAN	I|R	255|268;221;207;136	ENSP00000396458:L255I|ENSP00000247933:S268R;ENSP00000422952:S221R;ENSP00000423685:S207R;ENSP00000425081:S136R	ENSP00000396458:L255I|ENSP00000247933:S268R	L|S	+|+	1|3	0|2	IDUA|IDUA	985781|985781	0.975000|0.975000	0.34042|0.34042	1.000000|1.000000	0.80357|0.80357	0.187000|0.187000	0.23431|0.23431	0.334000|0.334000	0.19787|0.19787	0.603000|0.603000	0.29913|0.29913	0.561000|0.561000	0.74099|0.74099	CTC|AGC	-	NULL		0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	C	NM_000203	-		995781	1	no_errors	ENST00000453894	ensembl	human	known	74_37	missense	SNP	1.000	A	A	995781	C	A	995781	3	1	161	1	0	0	0	0	1	0	0	0	7506	796	28	3	830	3	IDUA	4	995781	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		995781	190158495	9	11485											
DCHS2	54798	genome.wustl.edu	37	chr4	155160445	155160445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccacaggtattgattcagGaactgtgacctgagggaaaa	11	9	1	3			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr4:155160445G>A	ENST00000357232.4	-	24	6003	c.6004C>T	c.(6004-6006)Cct>Tct	p.P2002S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2002	Cadherin 18. {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)		ATTGATTCAGGAACTGTGACC	0.403																																																	0								ENSG00000197410						66	63	64					4																	155160445		2203	4300	6503	DCHS2	SO:0001583	missense	0			-	HGNC	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.6004C>T	4.37:g.155160445G>A	ENSP00000349768:p.Pro2002Ser	Somatic	0	46	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	43	0	0	21	40.00	14	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P2002S	ENST00000357232.4	37	c.6004	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614114	0.28712	.	.	ENSG00000197410	ENST00000357232	T	0.52983	0.64	5.95	4.13	0.48395	Cadherin (3);Cadherin-like (1);	0.161498	0.43110	N	0.000617	T	0.34745	0.0908	L	0.33710	1.025	0.80722	D	1	B	0.27166	0.17	B	0.26310	0.068	T	0.12760	-1.0535	10	0.30078	T	0.28	.	10.3418	0.43882	0.1577:0.0:0.8423:0.0	.	2002	Q6V1P9	PCD23_HUMAN	S	2002	ENSP00000349768:P2002S	ENSP00000349768:P2002S	P	-	1	0	DCHS2	155379895	0.996000	0.38824	0.954000	0.39281	0.938000	0.57974	1.442000	0.35046	1.403000	0.46800	0.650000	0.86243	CCT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	G	NM_001142552	-		155160445	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155160445	G	A	155160445	3	1	161	1	0	0	0	0	1	0	0	0	4290	1174	41	2	2754	2	DCHS2	4	155160445	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	154164664	155160445	35993831	10	11486											
TLL1	7092	genome.wustl.edu	37	chr4	166915615	166915615	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatcgagttcccagagcCgctacatcaagaacggaaag	9	10	1	2	rs147468832		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr4:166915615C>A	ENST00000061240.2	+	4	1091	c.444C>A	c.(442-444)gcC>gcA	p.A148A	TLL1_ENST00000507499.1_Silent_p.A148A|TLL1_ENST00000513213.1_Silent_p.A148A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	148	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCCCAGAGCCGCTACATCAA	0.418																																																	0								ENSG00000038295						75	74	74					4																	166915615		2203	4300	6503	TLL1	SO:0001819	synonymous_variant	0			-	HGNC	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.444C>A	4.37:g.166915615C>A		Somatic	0	43	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	37	0	0	14	57.58	19	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.A148	ENST00000061240.2	37	c.444	CCDS3811.1	4																																																																																			-	pirsf_BMP_1/tolloid-like		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	protein_coding	OTTHUMT00000363821.1	C		-		166915615	1	no_errors	ENST00000061240	ensembl	human	known	74_37	silent	SNP	0.976	A	A	166915615	C	A	166915615	2	1	161	1	0	0	0	0	0	0	0	1	15952	639	23	3		3	TLL1	4	166915615	Silent	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	11755170	166915615	24238661	11	11487											
CDH18	1016	genome.wustl.edu	37	chr5	19838992	19838992	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caatgtgtttggtttggtttCtcatcaccttgatggagctg	11	7	2	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr5:19838992C>A	ENST00000507958.1	-	5	1094	c.104G>T	c.(103-105)aGa>aTa	p.R35I	CDH18_ENST00000502796.1_Missense_Mutation_p.R35I|CDH18_ENST00000382275.1_Missense_Mutation_p.R35I|CDH18_ENST00000274170.4_Missense_Mutation_p.R35I|CDH18_ENST00000506372.1_Missense_Mutation_p.R35I|CDH18_ENST00000511273.1_Missense_Mutation_p.R35I			Q13634	CAD18_HUMAN	cadherin 18, type 2	35					adherens junction organization (GO:0034332)|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)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGTTTGGTTTCTCATCACCTT	0.433																																																	0								ENSG00000145526						231	190	204					5																	19838992		2203	4300	6503	CDH18	SO:0001583	missense	0			-	HGNC	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.104G>T	5.37:g.19838992C>A	ENSP00000425093:p.Arg35Ile	Somatic	0	143	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	177	9.23	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	35	0	0	42	12.50	6	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R35I	ENST00000507958.1	37	c.104	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548075	0.45383	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.93	4.16	0.48862	.	0.525108	0.21879	N	0.067763	T	0.19846	0.0477	N	0.08118	0	0.49915	D	0.999833	B;B	0.28512	0.214;0.012	B;B	0.31812	0.136;0.01	T	0.05599	-1.0875	9	.	.	.	.	11.2906	0.49247	0.0:0.8525:0.0:0.1475	.	35;35	B4DHG6;Q13634	.;CAD18_HUMAN	I	35	ENSP00000371710:R35I;ENSP00000425093:R35I;ENSP00000274170:R35I;ENSP00000424931:R35I;ENSP00000422138:R35I;ENSP00000425854:R35I	.	R	-	2	0	CDH18	19874749	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.350000	0.44063	0.844000	0.35094	0.655000	0.94253	AGA	-	NULL		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	protein_coding	OTTHUMT00000366747.1	C	NM_004934	-		19838992	-1	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19838992	C	A	19838992	3	1	161	1	0	0	0	0	1	0	0	0	3105	913	32	3	2312	3	CDH18	5	19838992	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		19838992	161076268	12	11488											
ALDH7A1	501	genome.wustl.edu	37	chr5	125887816	125887816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggttctacataatttccaGggcgatccataacctaatgc	7	11	1	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr5:125887816G>T	ENST00000409134.3	-	14	1433	c.1214C>A	c.(1213-1215)cCt>cAt	p.P405H	RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P341H|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P368H	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	405					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		ATAATTTCCAGGGCGATCCAT	0.403																																																	0								ENSG00000164904						70	63	65					5																	125887816		2203	4300	6503	ALDH7A1	SO:0001583	missense	0			-	HGNC	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1214C>A	5.37:g.125887816G>T	ENSP00000387123:p.Pro405His	Somatic	0	34	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	45	0	0	71	0.00	0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.P405H	ENST00000409134.3	37	c.1214	CCDS4137.2	5	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866353	0.71949	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.90844	-2.74;-2.74;-2.74	4.88	4.88	0.63580	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.048568	0.85682	D	0.000000	D	0.92932	0.7751	L	0.43646	1.37	0.38535	D	0.949077	D;D	0.76494	0.994;0.999	P;D	0.65323	0.885;0.934	D	0.93976	0.7254	10	0.62326	D	0.03	.	18.1741	0.89756	0.0:0.0:1.0:0.0	.	368;405	E7EPT3;P49419	.;AL7A1_HUMAN	H	405;341;368;213	ENSP00000387123:P405H;ENSP00000448593:P341H;ENSP00000414132:P368H	ENSP00000387123:P405H	P	-	2	0	ALDH7A1	125915715	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.394000	0.97261	2.688000	0.91661	0.655000	0.94253	CCT	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.403	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH7A1	protein_coding	OTTHUMT00000250921.2	G	NM_001182	-		125887816	-1	no_errors	ENST00000409134	ensembl	human	known	74_37	missense	SNP	1.000	T	T	125887816	G	T	125887816	3	4	161	1	0	0	0	0	1	0	0	0	504	1000	35	3	425	3	ALDH7A1	5	125887816	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	106048824	125887816	55027444	13	11489											
LOC153328	153328	genome.wustl.edu	37	chr5	135188461	135188461	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggctgggagggcccgtGgacctcatcaagatccggtt	16	11	2	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr5:135188461G>T	ENST00000420621.1	+	4	544	c.372G>T	c.(370-372)gtG>gtT	p.V124V	SLC25A48_ENST00000274513.5_Silent_p.V124V|SLC25A48_ENST00000433282.2_Silent_p.V70V|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Silent_p.V124V			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	124					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GAGGGCCCGTGGACCTCATCA	0.667																																																	0								ENSG00000145832						32	35	34					5																	135188461		1970	4135	6105	SLC25A48	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"Solute carriers"	30451	protein-coding gene	gene with protein product	"HCC-down-regulated mitochondrial carrier protein"					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.372G>T	5.37:g.135188461G>T		Somatic	0	59	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	68	22.73	Q8TAV9	Silent	SNP	30	0	0	42	17.65	9	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V124	ENST00000420621.1	37	c.372		5																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.667	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	protein_coding		G	NM_145282	-		135188461	1	no_errors	ENST00000420621	ensembl	human	known	74_37	silent	SNP	1.000	T	T	135188461	G	T	135188461	2	4	161	1	0	0	0	0	0	0	0	1	8873	1335	47	3		3	LOC153328	5	135188461	Silent	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	9300645	135188461	45726799	14	11490											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140724710	140724710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaattgctcttatcgaCgtgcatgaccgagattctgg	11	8	2	3			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr5:140724710C>T	ENST00000253812.6	+	1	1110	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	370	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTATCGACGTGCATGACC	0.433																																																	0								ENSG00000254245						116	120	119					5																	140724710		1986	4182	6168	PCDHGA3	SO:0001819	synonymous_variant	0			-	HGNC	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.1110C>T	5.37:g.140724710C>T		Somatic	0	21	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	Q9Y5D4	Silent	SNP	39	0	0	44	18.52	10	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D370	ENST00000253812.6	37	c.1110	CCDS47290.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	protein_coding	OTTHUMT00000377017.1	C	NM_018916	-		140724710	1	no_errors	ENST00000253812	ensembl	human	known	74_37	silent	SNP	0.415	T	T	140724710	C	T	140724710	2	4	161	1	0	0	0	0	0	0	0	1	11557	535	19	1		1	PCDHGA3	5	140724710	Silent	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	5536249	140724710	40190550	15	11491											
GCM2	9247	genome.wustl.edu	37	chr6	10877424	10877424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcctcagctgcaggcGggaaccgtcgggcagggtgc	19	13	1	0	rs536827295		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr6:10877424G>A	ENST00000379491.4	-	2	439	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	98					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)				AGCTGCAGGCGGGAACCGTCG	0.607																																																	0								ENSG00000124827						76	71	73					6																	10877424		2203	4300	6503	GCM2	SO:0001583	missense	0			-	HGNC	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.292C>T	6.37:g.10877424G>A	ENSP00000368805:p.Arg98Cys	Somatic	0	36	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	88	12.87	D3GDV6|Q5THN5	Missense_Mutation	SNP	33	0	0	40	23.08	12	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R98C	ENST00000379491.4	37	c.292	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434355	0.62955	.	.	ENSG00000124827	ENST00000379491	T	0.74632	-0.86	5.69	1.33	0.21861	.	0.360015	0.31963	N	0.006784	T	0.43942	0.1270	L	0.48642	1.525	0.58432	D	0.999998	B	0.30236	0.274	B	0.23275	0.045	T	0.44937	-0.9295	10	0.87932	D	0	-5.0006	3.9707	0.09452	0.0845:0.1031:0.2908:0.5215	.	98	O75603	GCM2_HUMAN	C	98	ENSP00000368805:R98C	ENSP00000368805:R98C	R	-	1	0	GCM2	10985410	0.992000	0.36948	0.885000	0.34714	0.712000	0.41017	1.838000	0.39211	0.303000	0.22785	0.650000	0.86243	CGC	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.607	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	protein_coding	OTTHUMT00000039844.1	G		-		10877424	-1	no_errors	ENST00000379491	ensembl	human	known	74_37	missense	SNP	0.869	A	A	10877424	G	A	10877424	3	1	161	1	0	0	0	0	1	0	0	0	6300	1116	39	1	1244	1	GCM2	6	10877424	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		10877424	160237643	16	11492											
TMEM217	221468	genome.wustl.edu	37	chr6	37182996	37182996	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagacatctattgtgtatCtacaggtgctgggggctgag	14	7	2	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr6:37182996C>T	ENST00000336655.2	-	3	707	c.668G>A	c.(667-669)aGa>aAa	p.R223K	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	223						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						tattgtgtatctacaggtgct	0.403																																																	0								ENSG00000172738						111	112	111					6																	37182996		2203	4300	6503	TMEM217	SO:0001583	missense	0			-	HGNC		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.668G>A	6.37:g.37182996C>T	ENSP00000338164:p.Arg223Lys	Somatic	0	74	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	469	36	92.87	Q8TC54	Missense_Mutation	SNP	32	0	0	55	88.15	409	NULL	p.R223K	ENST00000336655.2	37	c.668	CCDS4831.1	6	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435821	0.25813	.	.	ENSG00000172738	ENST00000336655	.	.	.	1.73	-0.545	0.11843	.	.	.	.	.	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.35251	-0.9796	8	0.87932	D	0	.	4.1463	0.10217	0.0:0.4491:0.0:0.5509	.	223	Q8N7C4	TM217_HUMAN	K	223	.	ENSP00000338164:R223K	R	-	2	0	TMEM217	37290974	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.360000	0.07622	-0.155000	0.11098	0.462000	0.41574	AGA	-	NULL		0.403	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	protein_coding	OTTHUMT00000357542.1	C	NM_145316	-		37182996	-1	no_errors	ENST00000336655	ensembl	human	known	74_37	missense	SNP	0.000	T	T	37182996	C	T	37182996	3	4	161	1	0	0	0	0	1	0	0	0	16147	913	32	2	25	2	TMEM217	6	37182996	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	26305572	37182996	133932071	17	11493											
TMEM217	221468	genome.wustl.edu	37	chr6	37186212	37186212	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccacctacctctgcctctCaaagtactgggattccaggt	7	14	2	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr6:37186212C>G	ENST00000336655.2	-	2	634	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199Q	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	199						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ctctgcctctcaaagtactgg	0.473																																																	0								ENSG00000172738						26	28	27					6																	37186212		2203	4297	6500	TMEM217	SO:0001583	missense	0			-	HGNC		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.595G>C	6.37:g.37186212C>G	ENSP00000338164:p.Glu199Gln	Somatic	0	19	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	192	20	90.14	Q8TC54	Missense_Mutation	SNP	29	0	0	26	93.62	396	NULL	p.E199Q	ENST00000336655.2	37	c.595	CCDS4831.1	6	.	.	.	.	.	.	.	.	.	.	C	0.548	-0.850621	0.02651	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.06416	0.0165	N	0.14661	0.345	0.09310	N	1	B;B	0.23891	0.001;0.093	B;B	0.17979	0.0;0.02	T	0.37407	-0.9707	7	0.30078	T	0.28	.	.	.	.	.	199;199	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	Q	199	.	ENSP00000338164:E199Q	E	-	1	0	TMEM217	37294190	0.001000	0.12720	0.010000	0.14722	0.016000	0.09150	-0.338000	0.07842	0.192000	0.20272	0.195000	0.17529	GAG	-	NULL		0.473	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	protein_coding	OTTHUMT00000357542.1	C	NM_145316	-		37186212	-1	no_errors	ENST00000336655	ensembl	human	known	74_37	missense	SNP	0.013	G	G	37186212	C	G	37186212	3	3	161	1	0	0	0	0	1	0	0	0	16147	835	29	4	106	4	TMEM217	6	37186212	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	3216	37186212	133928855	18	11494											
ZNF451	26036	genome.wustl.edu	37	chr6	57017071	57017071	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtaagatttataactacctGaacaggattggatgcttctt	8	6	1	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr6:57017071G>A	ENST00000370706.4	+	12	3049	c.2805G>A	c.(2803-2805)ctG>ctA	p.L935L	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L935L|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L887L|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	935					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATAACTACCTGAACAGGATTG	0.363																																																	0								ENSG00000112200						123	118	120					6																	57017071		2203	4300	6503	ZNF451	SO:0001819	synonymous_variant	0			-	HGNC	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2805G>A	6.37:g.57017071G>A		Somatic	0	68	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	90	18.18	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	43	0	0	48	17.24	10	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L935	ENST00000370706.4	37	c.2805	CCDS43477.1	6																																																																																			-	NULL		0.363	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	protein_coding	OTTHUMT00000041035.2	G	NM_015555	-		57017071	1	no_errors	ENST00000370706	ensembl	human	known	74_37	silent	SNP	0.997	A	A	57017071	G	A	57017071	2	1	161	1	0	0	0	0	0	0	0	1	17929	1277	45	2		2	ZNF451	6	57017071	Silent	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	19830859	57017071	114097996	19	11495											
ZNF451	26036	genome.wustl.edu	37	chr6	57017129	57017129	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaaaagaaaagatgctgctGattttgccatatgtatgcat	9	5	0	3			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr6:57017129G>A	ENST00000370706.4	+	12	3107	c.2863G>A	c.(2863-2865)Gat>Aat	p.D955N	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D955N|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D907N|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGATGCTGCTGATTTTGCCAT	0.378																																																	0								ENSG00000112200						150	142	145					6																	57017129		2203	4300	6503	ZNF451	SO:0001583	missense	0			-	HGNC	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2863G>A	6.37:g.57017129G>A	ENSP00000359740:p.Asp955Asn	Somatic	0	56	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	72	15.29	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	34	0	0	51	8.93	5	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D955N	ENST00000370706.4	37	c.2863	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000296	0.93227	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.07908	3.15;3.15;3.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.02226	-1.1192	10	0.87932	D	0	-20.7387	19.1881	0.93653	0.0:0.0:1.0:0.0	.	907;955;955	Q9Y4E5-2;Q9Y4E5;E9PH99	.;ZN451_HUMAN;.	N	955;907;955	ENSP00000359740:D955N;ENSP00000350083:D907N;ENSP00000421645:D955N	ENSP00000350083:D907N	D	+	1	0	ZNF451	57125088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.722000	0.74735	2.604000	0.88044	0.655000	0.94253	GAT	-	NULL		0.378	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	protein_coding	OTTHUMT00000041035.2	G	NM_015555	-		57017129	1	no_errors	ENST00000370706	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57017129	G	A	57017129	3	1	161	1	0	0	0	0	1	0	0	0	17929	1290	45	2	2909	2	ZNF451	6	57017129	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	58	57017129	114097938	20	11496											
HEY2	23493	genome.wustl.edu	37	chr6	126070965	126070965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgacctccgagagcgacatgGacgagaccatcgacgtgggg	15	12	0	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr6:126070965G>T	ENST00000368364.3	+	1	240	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	RP11-624M8.1_ENST00000451660.2_RNA|RP11-624M8.1_ENST00000606001.1_RNA|HEY2_ENST00000368365.1_Intron|RP11-624M8.1_ENST00000432121.1_RNA	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	15					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAGCGACATGGACGAGACCAT	0.701																																																	0								ENSG00000135547						25	24	24					6																	126070965		2182	4283	6465	HEY2	SO:0001583	missense	0			-	HGNC	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.43G>T	6.37:g.126070965G>T	ENSP00000357348:p.Asp15Tyr	Somatic	0	39	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.09		Missense_Mutation	SNP	32	3.03	1	52	0.00	0	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1	p.D15Y	ENST00000368364.3	37	c.43	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486008	0.84854	.	.	ENSG00000135547	ENST00000368364	T	0.66460	-0.21	4.65	4.65	0.58169	.	0.062795	0.64402	D	0.000013	T	0.67392	0.2888	M	0.64404	1.975	0.80722	D	1	D	0.67145	0.996	P	0.51453	0.67	T	0.73827	-0.3860	10	0.87932	D	0	1.8526	17.887	0.88858	0.0:0.0:1.0:0.0	.	15	Q9UBP5	HEY2_HUMAN	Y	15	ENSP00000357348:D15Y	ENSP00000357348:D15Y	D	+	1	0	HEY2	126112658	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	9.168000	0.94781	2.277000	0.76020	0.462000	0.41574	GAC	-	NULL		0.701	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	protein_coding	OTTHUMT00000042077.1	G		-		126070965	1	no_errors	ENST00000368364	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126070965	G	T	126070965	3	4	161	1	0	0	0	0	1	0	0	0	7081	1174	41	3	45	3	HEY2	6	126070965	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	69053836	126070965	45044102	21	11497											
AMZ1	155185	genome.wustl.edu	37	chr7	2748796	2748796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggccctggtagaggcagCagcagacggccccgaggccc	15	15	1	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr7:2748796C>T	ENST00000312371.4	+	5	1057	c.689C>T	c.(688-690)gCa>gTa	p.A230V	AMZ1_ENST00000407112.1_Intron|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	230							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTAGAGGCAGCAGCAGACGGC	0.682																																																	0								ENSG00000174945						15	19	17					7																	2748796		2200	4296	6496	AMZ1	SO:0001583	missense	0			-	HGNC	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.689C>T	7.37:g.2748796C>T	ENSP00000308149:p.Ala230Val	Somatic	0	15	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	B3KRS0|Q8TF51	Missense_Mutation	SNP	26	0	0	29	17.14	6	pfam_Pept_M54_archaemetzincn	p.A230V	ENST00000312371.4	37	c.689	CCDS34589.1	7	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641105	0.29157	.	.	ENSG00000174945	ENST00000312371	T	0.24350	1.86	4.49	1.61	0.23674	.	0.194108	0.25578	N	0.029715	T	0.14056	0.0340	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20042	-1.0287	10	0.27082	T	0.32	-10.2357	3.8725	0.09042	0.1163:0.5381:0.1983:0.1473	.	230	Q400G9	AMZ1_HUMAN	V	230	ENSP00000308149:A230V	ENSP00000308149:A230V	A	+	2	0	AMZ1	2715322	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.067000	0.14510	0.088000	0.17205	-0.448000	0.05591	GCA	-	NULL		0.682	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	protein_coding	OTTHUMT00000325244.1	C	NM_133463	-		2748796	1	no_errors	ENST00000312371	ensembl	human	known	74_37	missense	SNP	0.000	T	T	2748796	C	T	2748796	3	4	161	1	0	0	0	0	1	0	0	0	596	710	25	2	703	2	AMZ1	7	2748796	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		2748796	156389867	22	11498											
FAM188B	84182	genome.wustl.edu	37	chr7	30921893	30921893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagccggggctcctgcGtgactggaggactgagaggc	17	12	0	2	rs199649103		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr7:30921893G>A	ENST00000265299.6	+	16	2146	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.R36H|AQP1_ENST00000509504.1_Missense_Mutation_p.R153H	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	690										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCTCCTGCGTGACTGGAGG	0.607																																																	0								ENSG00000106125	G	HIS/ARG	0,3910		0,0,1955	60	63	62		2069	-1.3	0.1	7		62	4,8282		0,4,4139	yes	missense	FAM188B	NM_032222.2	29	0,4,6094	AA,AG,GG		0.0483,0.0,0.0328	probably-damaging	690/758	30921893	4,12192	1955	4143	6098	FAM188B	SO:0001583	missense	0			-	HGNC	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.2069G>A	7.37:g.30921893G>A	ENSP00000265299:p.Arg690His	Somatic	0	29	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	71	21.11	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	28	0	0	46	28.12	18	NULL	p.R690H	ENST00000265299.6	37	c.2069	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133261	0.37630	0.0	4.83E-4	ENSG00000106125;ENSG00000106125;ENSG00000240583;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000434909;ENST00000509504	T;T;T	0.31247	1.5;1.5;1.5	5.38	-1.28	0.09318	.	0.985940	0.08295	N	0.967772	T	0.36635	0.0974	L	0.47190	1.495	0.09310	N	1	P;D;D	0.69078	0.579;0.994;0.997	B;P;P	0.54590	0.147;0.756;0.756	T	0.36187	-0.9758	10	0.87932	D	0	1.4457	7.4316	0.27131	0.2962:0.14:0.5638:0.0	.	36;210;690	B4E220;B8ZZX1;Q4G0A6	.;.;F188B_HUMAN	H	690;210;36;153	ENSP00000265299:R690H;ENSP00000395059:R36H;ENSP00000421315:R153H	ENSP00000265299:R690H	R	+	2	0	RP5-877J2.1;FAM188B;AQP1	30888418	0.032000	0.19561	0.091000	0.20842	0.290000	0.27261	1.215000	0.32431	-0.058000	0.13177	0.655000	0.94253	CGT	-	NULL		0.607	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	protein_coding	OTTHUMT00000327962.1	G	NM_032222	rs199649103		30921893	1	no_errors	ENST00000265299	ensembl	human	known	74_37	missense	SNP	0.004	A	A	30921893	G	A	30921893	3	1	161	1	0	0	0	0	1	0	0	0	5517	1145	40	1	2131	1	FAM188B	7	30921893	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	28173097	30921893	128216770	23	11499											
ZNF273	10793	genome.wustl.edu	37	chr7	64388928	64388928	+	Frame_Shift_Del	DEL	G	G	-													cctacaaatgtgaagaatgtGgtaaagcctttaaacggtcc							TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr7:64388928delG	ENST00000476120.1	+	4	1293	c.1222delG	c.(1222-1224)ggtfs	p.G408fs	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Frame_Shift_Del_p.G343fs	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	408					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(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGAAGAATGTGGTAAAGCCTT	0.358																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0								ENSG00000198039						45	49	47					7																	64388928		2203	4297	6500	ZNF273	SO:0001589	frameshift_variant	0				HGNC	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1222delG	7.37:g.64388928delG	ENSP00000418719:p.Gly408fs	Somatic	0	73	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B3KQZ5|Q6P3V4	Frame_Shift_Del	DEL	39	0	0	86	0.00	0	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G408fs	ENST00000476120.1	37	c.1222	CCDS5528.2	7																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	protein_coding	OTTHUMT00000313502.1	G				64388928	1	no_errors	ENST00000476120	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	64388928	G	-	64388928	7	5	161	1	0	1	0	1	0	0	0	0	17815	1348	47	0	1236	0	ZNF273	7	64388928	Frame_Shift_Del	DEL	G	TCGA-IS-A3KA-01A-11D-A21Q-09	33467035	64388928	94749735	24	11500											
RUNDC3B	154661	genome.wustl.edu	37	chr7	87329764	87329764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggtttggttatgaaaGtcctcgtagcttctgggact	11	8	1	1	rs139503670		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr7:87329764G>A	ENST00000338056.3	+	4	728	c.317G>A	c.(316-318)aGt>aAt	p.S106N	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S89N|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S89N|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	106	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GGTTATGAAAGTCCTCGTAGC	0.348																																																	0								ENSG00000105784						81	77	79					7																	87329764		2203	4300	6503	RUNDC3B	SO:0001583	missense	0			-	HGNC		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.317G>A	7.37:g.87329764G>A	ENSP00000337732:p.Ser106Asn	Somatic	0	28	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	34	0	0	48	25.00	16	pfam_Run,smart_Run,pfscan_Run	p.S106N	ENST00000338056.3	37	c.317	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978403	0.92982	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.11169	2.8;2.8;2.8	5.18	5.18	0.71444	RUN (2);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	L	0.40543	1.245	0.80722	D	1	P;P;P;D;P	0.57899	0.896;0.896;0.728;0.981;0.741	P;P;B;D;P	0.66351	0.649;0.649;0.42;0.943;0.665	T	0.00577	-1.1662	10	0.37606	T	0.19	-12.1603	18.2905	0.90129	0.0:0.0:1.0:0.0	.	89;89;11;89;106	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	N	106;89;89	ENSP00000337732:S106N;ENSP00000420394:S89N;ENSP00000378149:S89N	ENSP00000337732:S106N	S	+	2	0	RUNDC3B	87167700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.566000	0.82347	2.402000	0.81655	0.585000	0.79938	AGT	-	pfam_Run,pfscan_Run		0.348	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	protein_coding	OTTHUMT00000253679.1	G	NM_138290	-		87329764	1	no_errors	ENST00000338056	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87329764	G	A	87329764	3	1	161	1	0	0	0	0	1	0	0	0	13753	1029	36	2	331	2	RUNDC3B	7	87329764	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	22940836	87329764	71808899	25	11501											
PTK2	5747	genome.wustl.edu	37	chr8	141900797	141900797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcttagtactcgaatttgGtgtgtgattcaagttggggt	13	4	2	1	rs191376716	byFrequency	TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr8:141900797G>T	ENST00000522684.1	-	3	269	c.40C>A	c.(40-42)Cca>Aca	p.P14T	PTK2_ENST00000395218.2_Missense_Mutation_p.P14T|PTK2_ENST00000519881.1_Missense_Mutation_p.P14T|PTK2_ENST00000517887.1_Missense_Mutation_p.P58T|PTK2_ENST00000340930.3_Missense_Mutation_p.P14T|PTK2_ENST00000535192.1_Missense_Mutation_p.P14T|PTK2_ENST00000521059.1_Missense_Mutation_p.P14T|PTK2_ENST00000520892.1_Missense_Mutation_p.P14T|PTK2_ENST00000519419.1_Missense_Mutation_p.P58T	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	14					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCGAATTTGGTGTGTGATTC	0.383																																																	0								ENSG00000169398						120	98	106					8																	141900797		2203	4300	6503	PTK2	SO:0001583	missense	0			-	HGNC	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.40C>A	8.37:g.141900797G>T	ENSP00000429911:p.Pro14Thr	Somatic	0	95	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	87	19.44	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	33	0	0	38	19.15	9	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P14T	ENST00000522684.1	37	c.40	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.12|11.12	1.545147|1.545147	0.27652|0.27652	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000524357;ENST00000520475;ENST00000519881;ENST00000520892;ENST00000523803;ENST00000521907;ENST00000517453;ENST00000520045;ENST00000521395;ENST00000521332;ENST00000524040|ENST00000519654	T;T;T;T;T;T;T|T	0.76316|0.78003	-1.01;-1.0;-0.98;-1.01;-1.0;-1.0;-0.98|-1.14	5.68|5.68	4.8|4.8	0.61643|0.61643	.|.	0.217942|.	0.48286|.	D|.	0.000193|.	T|T	0.72374|0.72374	0.3452|0.3452	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|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;0.0|.	T|T	0.69862|0.69862	-0.5030|-0.5030	10|7	0.17832|0.27082	T|T	0.49|0.32	.|.	16.8293|16.8293	0.85940|0.85940	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	14;14;36;14|.	B4E2N6;Q05397;Q658W2;Q8IYN9|.	.;FAK1_HUMAN;.;.|.	T|N	14;14;58;14;27;14;14;58;14;14;14;14;14;14;14;14;14;14;14|24	ENSP00000429911:P14T;ENSP00000438009:P14T;ENSP00000429082:P58T;ENSP00000429474:P14T;ENSP00000378644:P14T;ENSP00000341189:P14T;ENSP00000429129:P58T|ENSP00000429929:T24N	ENSP00000341189:P14T|ENSP00000429929:T24N	P|T	-|-	1|2	0|0	PTK2|PTK2	141969979|141969979	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.937000|0.937000	0.57800|0.57800	3.683000|3.683000	0.54663|0.54663	1.372000|1.372000	0.46190|0.46190	0.650000|0.650000	0.86243|0.86243	CCA|ACC	-	NULL		0.383	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	protein_coding	OTTHUMT00000378054.5	G	NM_005607	-		141900797	-1	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	SNP	0.539	T	T	141900797	G	T	141900797	3	4	161	1	0	0	0	0	1	0	0	0	12768	1261	44	3	3238	3	PTK2	8	141900797	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		141900797	4463225	26	11502											
KIAA2026	158358	genome.wustl.edu	37	chr9	5968024	5968024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgttagcttaccagatTtgtgcttcttgtgttttgct	9	6	1	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr9:5968024T>C	ENST00000399933.3	-	3	2206	c.2207A>G	c.(2206-2208)aAa>aGa	p.K736R	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K736R	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	736	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTACCAGATTTGTGCTTCTT	0.323																																																	0								ENSG00000183354						18	18	18					9																	5968024		1821	4049	5870	KIAA2026	SO:0001583	missense	0			-	HGNC	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2207A>G	9.37:g.5968024T>C	ENSP00000382815:p.Lys736Arg	Somatic	0	65	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	43	0	0	31	52.31	34	superfamily_Bromodomain	p.K736R	ENST00000399933.3	37	c.2207		9	.	.	.	.	.	.	.	.	.	.	T	9.831	1.188522	0.21954	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.89	4.75	0.60458	.	.	.	.	.	T	0.48696	0.1514	N	0.14661	0.345	0.37898	D	0.930955	D	0.55385	0.971	P	0.55749	0.783	T	0.57849	-0.7740	8	0.62326	D	0.03	.	11.764	0.51920	0.0:0.0688:0.0:0.9312	.	736	Q5HYC2	K2026_HUMAN	R	736	.	ENSP00000370870:K736R	K	-	2	0	KIAA2026	5958024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.919000	0.70005	1.052000	0.40392	0.477000	0.44152	AAA	-	NULL		0.323	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	protein_coding	OTTHUMT00000051652.2	T	NM_001017969	-		5968024	-1	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	SNP	1.000	C	C	5968024	T	C	5968024	3	2	161	1	0	0	0	0	1	0	0	0	8272	1841	64	5	4128	5	KIAA2026	9	5968024	Missense_Mutation	SNP	T	TCGA-IS-A3KA-01A-11D-A21Q-09		5968024	135245407	27	11503											
OR13D1	286365	genome.wustl.edu	37	chr9	107456942	107456942	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatagcctcctcattatcatCaccatcttggattctcgcct	4	14	5	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr9:107456942C>A	ENST00000318763.5	+	1	283	c.240C>A	c.(238-240)atC>atA	p.I80I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCATTATCATCACCATCTTGG	0.453																																																	0								ENSG00000179055						222	222	222					9																	107456942		2203	4300	6503	OR13D1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.240C>A	9.37:g.107456942C>A		Somatic	0	81	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	84	13.40	B9EIS1|Q6IFL1	Silent	SNP	51	0	0	36	21.74	10	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I80	ENST00000318763.5	37	c.240	CCDS35094.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	protein_coding	OTTHUMT00000053483.1	C		-		107456942	1	no_errors	ENST00000318763	ensembl	human	known	74_37	silent	SNP	0.000	A	A	107456942	C	A	107456942	2	1	161	1	0	0	0	0	0	0	0	1	10942	816	29	3		3	OR13D1	9	107456942	Silent	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	101488918	107456942	33756489	28	11504											
ZNF462	58499	genome.wustl.edu	37	chr9	109691436	109691436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtgatcatcccatcccCgcccaaggacgactcccctc	6	19	1	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr9:109691436C>T	ENST00000277225.5	+	3	5532	c.5243C>T	c.(5242-5244)cCg>cTg	p.P1748L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1748L|ZNF462_ENST00000441147.2_Missense_Mutation_p.P593L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1748					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)			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						ATCCCATCCCCGCCCAAGGAC	0.567																																																	0								ENSG00000148143						106	87	93					9																	109691436		2203	4300	6503	ZNF462	SO:0001583	missense	0			-	HGNC	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.5243C>T	9.37:g.109691436C>T	ENSP00000277225:p.Pro1748Leu	Somatic	0	32	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	Q5T0T4|Q8N408	Missense_Mutation	SNP	30	0	0	46	6.12	3	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1748L	ENST00000277225.5	37	c.5243	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890472	0.72524	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06768	3.26;3.69;3.74;3.81	6.08	6.08	0.98989	.	0.103096	0.64402	D	0.000002	T	0.13756	0.0333	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.56751	0.805;0.644	T	0.08229	-1.0732	10	0.40728	T	0.16	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1748;1748	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1748;1748;631;593	ENSP00000277225:P1748L;ENSP00000414570:P1748L;ENSP00000363818:P631L;ENSP00000397306:P593L	ENSP00000277225:P1748L	P	+	2	0	ZNF462	108731257	0.988000	0.35896	0.915000	0.36163	0.953000	0.61014	5.545000	0.67237	2.894000	0.99253	0.591000	0.81541	CCG	-	NULL		0.567	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	C	NM_021224	-		109691436	1	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	SNP	0.994	T	T	109691436	C	T	109691436	3	4	161	1	0	0	0	0	1	0	0	0	17933	652	23	1	5249	1	ZNF462	9	109691436	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	2234494	109691436	31521995	29	11505											
RGS3	5998	genome.wustl.edu	37	chr9	116356457	116356457	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggctgcagcctgcacCgttgctgcccgctgcccagg	14	15	0	0	rs555206859		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr9:116356457C>A	ENST00000374140.2	+	23	3289				RGS3_ENST00000462403.1_Silent_p.T86T|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCCTGCACCGTTGCTGCCC	0.662																																																	0								ENSG00000138835						46	52	50					9																	116356457		2203	4299	6502	RGS3	SO:0001627	intron_variant	0			-	HGNC	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-253C>A	9.37:g.116356457C>A		Somatic	0	13	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	27	0	0	24	45.45	20	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.T86	ENST00000374140.2	37	c.258	CCDS43869.1	9																																																																																			-	NULL		0.662	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	protein_coding	OTTHUMT00000055561.3	C	NM_017790	-		116356457	1	no_errors	ENST00000462403	ensembl	human	known	74_37	silent	SNP	0.000	A	A	116356457	C	A	116356457	1	1	161	0	1	0	0	0	0	0	0	0	13314	639	23	3		3	RGS3	9	116356457	Intron	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	6665021	116356457	24856974	30	11506											
DBC1	1620	genome.wustl.edu	37	chr9	121971060	121971060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaggccgaaaagcttgCgggcagtgcgttggatcttt	14	9	1	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr9:121971060C>T	ENST00000265922.3	-	7	1543	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	361					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)		p.R361H(1)									GAAAAGCTTGCGGGCAGTGCG	0.582																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000078725						226	188	201					9																	121971060		2203	4300	6503	BRINP1	SO:0001583	missense	0			-	HGNC	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.1082G>A	9.37:g.121971060C>T	ENSP00000265922:p.Arg361His	Somatic	0	108	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	118	32.57	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	36	0	0	33	19.51	8	pfam_MACPF,smart_MACPF	p.R361H	ENST00000265922.3	37	c.1082	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291614	0.59976	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15017	2.46	5.79	5.79	0.91817	.	0.049549	0.85682	D	0.000000	T	0.30479	0.0766	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.01316	-1.1387	10	0.18276	T	0.48	-13.1734	19.0317	0.92960	0.0:1.0:0.0:0.0	.	361	O60477	DBC1_HUMAN	H	361	ENSP00000265922:R361H	ENSP00000265922:R361H	R	-	2	0	DBC1	121010881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.655000	0.61476	2.731000	0.93534	0.650000	0.86243	CGC	-	NULL		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	protein_coding	OTTHUMT00000055440.2	C	NM_014618	-		121971060	-1	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121971060	C	T	121971060	3	4	161	1	0	0	0	0	1	0	0	0	4249	768	27	1	1211	1	DBC1	9	121971060	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	5614603	121971060	19242371	31	11507											
KIAA0913	23053	genome.wustl.edu	37	chr10	75553404	75553404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatagcagtgaggcctcccGtctcactgtggagcttgccc	11	14	1	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr10:75553404G>T	ENST00000605216.1	+	11	2589	c.2372G>T	c.(2371-2373)cGt>cTt	p.R791L	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R791L|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R758L|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R791L|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R791L	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	791							zinc ion binding (GO:0008270)										GAGGCCTCCCGTCTCACTGTG	0.597																																																	0								ENSG00000214655						81	85	84					10																	75553404		2062	4181	6243	ZSWIM8	SO:0001583	missense	0			-	HGNC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2372G>T	10.37:g.75553404G>T	ENSP00000474748:p.Arg791Leu	Somatic	0	22	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	16	52.94	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	24	0	0	11	62.07	18	pfscan_Znf_SWIM	p.R791L	ENST00000605216.1	37	c.2372		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.195309|4.195309	0.78902|0.78902	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000431225;ENST00000412198	T|.	0.43688|.	0.94|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.096864|.	0.42172|.	U|.	0.000751|.	T|T	0.73118|0.73118	0.3546|0.3546	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999987|0.999987	P;P;P;P|.	0.38020|.	0.462;0.615;0.462;0.462|.	B;B;B;B|.	0.35931|.	0.153;0.21;0.214;0.153|.	T|T	0.69209|0.69209	-0.5205|-0.5205	10|5	0.51188|.	T|.	0.08|.	-6.1033|-6.1033	19.4432|19.4432	0.94831|0.94831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	791;791;791;791|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	L|F	791|288;61	ENSP00000381693:R791L|.	ENSP00000381693:R791L|.	R|V	+|+	2|1	0|0	KIAA0913|KIAA0913	75223410|75223410	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	5.540000|5.540000	0.67205|0.67205	2.833000|2.833000	0.97629|0.97629	0.650000|0.650000	0.86243|0.86243	CGT|GTC	-	NULL		0.597	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	protein_coding	OTTHUMT00000468545.1	G	NM_001242487	-		75553404	1	no_errors	ENST00000398706	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75553404	G	T	75553404	3	4	161	1	0	0	0	0	1	0	0	0	8202	1145	40	3	2414	3	KIAA0913	10	75553404	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		75553404	59981343	32	11508											
PLCE1	51196	genome.wustl.edu	37	chr10	96012079	96012079	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctctttcacaggaggatGgacggtatgaaggcccaact	13	9	2	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr10:96012079G>T	ENST00000371380.3	+	8	3338	c.3103G>T	c.(3103-3105)Gga>Tga	p.G1035*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.G727*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.G727*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.G1035*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1035					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)				ACAGGAGGATGGACGGTATGA	0.493																																																	0								ENSG00000138193						112	112	112					10																	96012079		2071	4217	6288	PLCE1	SO:0001587	stop_gained	0			-	HGNC		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.3103G>T	10.37:g.96012079G>T	ENSP00000360431:p.Gly1035*	Somatic	0	63	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	14.00	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	37	0	0	37	5.13	2	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.G1035*	ENST00000371380.3	37	c.3103	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	47	13.437339	0.99742	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6293	0.45527	0.1425:0.0:0.8575:0.0	.	.	.	.	X	1035;1035;727;727	.	ENSP00000260766:G1035X	G	+	1	0	PLCE1	96002069	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.488000	0.60300	2.850000	0.98022	0.650000	0.86243	GGA	-	NULL		0.493	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341	-		96012079	1	no_errors	ENST00000260766	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	96012079	G	T	96012079	4	4	161	1	0	0	0	0	0	1	0	0	12036	1349	47	3	3419	3	PLCE1	10	96012079	Nonsense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	20458675	96012079	39522668	33	11509											
HBD	3045	genome.wustl.edu	37	chr11	5255646	5255646	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagcagtcttctcctcAggagtcagatgcaccatggt	10	11	4	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr11:5255646A>C	ENST00000380299.3	-	1	232	c.18T>G	c.(16-18)ccT>ccG	p.P6P	HBD_ENST00000292901.3_Silent_p.P6P	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	6					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCTCCTCAGGAGTCAGAT	0.507																																																	0								ENSG00000223609						180	145	157					11																	5255646		2201	4298	6499	HBD	SO:0001819	synonymous_variant	0			-	HGNC	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.18T>G	11.37:g.5255646A>C		Somatic	0	108	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	117	8.59	Q3Y5H3|Q8WXT7	Silent	SNP	49	0	0	51	22.73	15	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin	p.P6	ENST00000380299.3	37	c.18	CCDS31376.1	11																																																																																			-	superfamily_Globin-like,pfscan_Globin		0.507	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	protein_coding	OTTHUMT00000142970.1	A	NM_000519	-		5255646	-1	no_errors	ENST00000380299	ensembl	human	known	74_37	silent	SNP	0.000	C	C	5255646	A	C	5255646	2	2	161	1	0	0	0	0	0	0	0	1	6981	175	7	5		5	HBD	11	5255646	Silent	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09		5255646	129750870	34	11510											
ATG2A	23130	genome.wustl.edu	37	chr11	64678645	64678645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtggtccggaagatGgggcagacgtctgaagcaag	18	7	2	3			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr11:64678645G>C	ENST00000377264.3	-	10	1443	c.1331C>G	c.(1330-1332)cCa>cGa	p.P444R	ATG2A_ENST00000421419.2_Missense_Mutation_p.P444R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	444					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCCGGAAGATGGGGCAGACGT	0.602																																																	0								ENSG00000110046						124	114	117					11																	64678645		2201	4297	6498	ATG2A	SO:0001583	missense	0			-	HGNC		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1331C>G	11.37:g.64678645G>C	ENSP00000366475:p.Pro444Arg	Somatic	0	32	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	39	0	0	24	35.14	13	pfam_Autophagy-rel_C	p.P444R	ENST00000377264.3	37	c.1331	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310179	0.60414	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07800	3.16;3.16	4.69	3.78	0.43462	.	0.190463	0.45361	D	0.000367	T	0.08980	0.0222	L	0.61218	1.895	0.44254	D	0.997104	P	0.44877	0.845	B	0.39379	0.298	T	0.09357	-1.0678	10	0.44086	T	0.13	.	5.8198	0.18520	0.0975:0.0:0.711:0.1915	.	444	Q2TAZ0	ATG2A_HUMAN	R	444	ENSP00000410522:P444R;ENSP00000366475:P444R	ENSP00000366475:P444R	P	-	2	0	ATG2A	64435221	0.967000	0.33354	0.846000	0.33378	0.951000	0.60555	1.639000	0.37176	1.345000	0.45676	0.462000	0.41574	CCA	-	NULL		0.602	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	protein_coding	OTTHUMT00000143224.1	G	NM_015104	-		64678645	-1	no_errors	ENST00000421419	ensembl	human	known	74_37	missense	SNP	0.971	C	C	64678645	G	C	64678645	3	2	161	1	0	0	0	0	1	0	0	0	1093	1348	47	4	4613	4	ATG2A	11	64678645	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	59422999	64678645	70327871	35	11511											
ZNHIT2	741	genome.wustl.edu	37	chr11	64884288	64884288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccctcgtgtgcccagggGccccggcgggtgctcgcctg	16	17	0	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr11:64884288G>T	ENST00000310597.4	-	1	882	c.838C>A	c.(838-840)Ccc>Acc	p.P280T	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	280							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GTGCCCAGGGGCCCCGGCGGG	0.701																																																	0								ENSG00000174276						13	16	15					11																	64884288		2186	4276	6462	ZNHIT2	SO:0001583	missense	0			-	HGNC		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"Zinc fingers, HIT-type"	1177	protein-coding gene	gene with protein product		604575	"chromosome 11 open reading frame 5", "zinc finger, HIT domain containing 2"	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.838C>A	11.37:g.64884288G>T	ENSP00000308548:p.Pro280Thr	Somatic	0	18	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	Q3SY14|Q8IUV0	Missense_Mutation	SNP	25	0	0	29	27.50	11	pfam_Znf_HIT,pfscan_Znf_HIT	p.P280T	ENST00000310597.4	37	c.838	CCDS8094.1	11	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007418	0.54361	.	.	ENSG00000174276	ENST00000310597;ENST00000528598	T	0.30182	1.54	4.67	4.67	0.58626	.	0.706801	0.12776	U	0.440054	T	0.39489	0.1080	N	0.24115	0.695	0.40598	D	0.981551	D	0.76494	0.999	D	0.71184	0.972	T	0.04650	-1.0936	10	0.16420	T	0.52	-16.8793	15.0938	0.72217	0.0:0.0:1.0:0.0	.	280	Q9UHR6	ZNHI2_HUMAN	T	280;115	ENSP00000308548:P280T	ENSP00000308548:P280T	P	-	1	0	ZNHIT2	64640864	0.977000	0.34250	0.959000	0.39883	0.292000	0.27327	2.631000	0.46502	2.417000	0.82017	0.561000	0.74099	CCC	-	NULL		0.701	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT2	protein_coding	OTTHUMT00000385260.1	G	NM_014205	-		64884288	-1	no_errors	ENST00000310597	ensembl	human	known	74_37	missense	SNP	0.995	T	T	64884288	G	T	64884288	3	4	161	1	0	0	0	0	1	0	0	0	18214	1203	42	3	377	3	ZNHIT2	11	64884288	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	205643	64884288	70122228	36	11512											
FOLH1B	219595	genome.wustl.edu	37	chr11	89405054	89405054	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttgtatctatgctttctaGacagatatgtcattctggga	8	7	5	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr11:89405054G>T	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATGCTTTCTAGACAGATATGT	0.413																																																	0								ENSG00000134612						86	85	85					11																	89405054		2201	4296	6497	FOLH1B			0			-	HGNC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405054G>T		Somatic	0	52	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43		Splice_Site	SNP	41	0	0	58	4.92	3	-	NULL	ENST00000532352.1	37	c.NULL		11																																																																																			-	-		0.413	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	pseudogene	OTTHUMT00000395421.1	G	NM_153696	-		89405054	1	no_errors	ENST00000525540	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	89405054	G	T	89405054	1	4	161	0	1	0	0	0	0	0	0	0	5982	956	33	3		3	FOLH1B	11	89405054	RNA	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	24520766	89405054	45601462	37	11513											
MMP27	64066	genome.wustl.edu	37	chr11	102575384	102575384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgagtccagttttccAgtcactgtcaatccaaaaaa	7	9	2	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr11:102575384A>G	ENST00000260229.4	-	2	316	c.225T>C	c.(223-225)acT>acC	p.T75T		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	75					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CCAGTTTTCCAGTCACTGTCA	0.453																																																	0								ENSG00000137675						125	118	120					11																	102575384		2203	4299	6502	MMP27	SO:0001819	synonymous_variant	0			-	HGNC	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.225T>C	11.37:g.102575384A>G		Somatic	0	69	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	Q6UWK6	Silent	SNP	49	0	0	27	12.90	4	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.T75	ENST00000260229.4	37	c.225	CCDS8319.1	11																																																																																			-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans		0.453	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	protein_coding	OTTHUMT00000398128.1	A	NM_022122	-		102575384	-1	no_errors	ENST00000260229	ensembl	human	known	74_37	silent	SNP	0.987	G	G	102575384	A	G	102575384	2	3	161	1	0	0	0	0	0	0	0	1	9666	175	7	5		5	MMP27	11	102575384	Silent	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09	13170330	102575384	32431132	38	11514											
FDXACB1	91893	genome.wustl.edu	37	chr11	111746328	111746328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagattttgattaaccCcaaggataaataaagtttca	5	8	2	2	rs137921139		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr11:111746328C>T	ENST00000260257.4	-	5	1240	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.G249E	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	398					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TTGATTAACCCCAAGGATAAA	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		22224	0		0	False		,,,				2504	0																0								ENSG00000255561						165	164	164					11																	111746328		1883	4111	5994	FDXACB1	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1193G>A	11.37:g.111746328C>T	ENSP00000260257:p.Gly398Glu	Somatic	0	15	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00	A0PJW7|B4DUU2	Missense_Mutation	SNP	38	0	0	18	21.74	5	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.G398E	ENST00000260257.4	37	c.1193	CCDS44729.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.85	1.761897	0.31228	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.35605	1.3;1.3;1.3	6.17	3.28	0.37604	.	0.204938	0.49916	D	0.000134	T	0.28267	0.0698	L	0.50333	1.59	0.31800	N	0.628506	B	0.26445	0.149	B	0.23419	0.046	T	0.25502	-1.0130	10	0.24483	T	0.36	.	7.7225	0.28740	0.1075:0.4893:0.3402:0.063	.	398	Q9BRP7	FDXA1_HUMAN	E	398;249;309	ENSP00000260257:G398E;ENSP00000441304:G249E;ENSP00000435572:G309E	ENSP00000260257:G398E	G	-	2	0	FDXACB1	111251538	0.870000	0.30015	0.356000	0.25785	0.407000	0.30961	1.747000	0.38298	0.472000	0.27344	0.655000	0.94253	GGG	-	NULL		0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	protein_coding	OTTHUMT00000391497.1	C	NM_138378	rs137921139		111746328	-1	no_errors	ENST00000260257	ensembl	human	known	74_37	missense	SNP	0.475	T	T	111746328	C	T	111746328	3	4	161	1	0	0	0	0	1	0	0	0	5808	623	22	2	685	2	FDXACB1	11	111746328	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	9170944	111746328	23260188	39	11515											
PKP2	5318	genome.wustl.edu	37	chr12	32975533	32975533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctccagctggtaggagagGttatgaagaatgcacacaca	12	9	0	3			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr12:32975533G>T	ENST00000070846.6	-	9	1863	c.1839C>A	c.(1837-1839)aaC>aaA	p.N613K	PKP2_ENST00000340811.4_Missense_Mutation_p.N569K	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	613					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGTAGGAGAGGTTATGAAGAA	0.408																																																	0			GRCh37	CM085058	PKP2	M		ENSG00000057294						95	93	94					12																	32975533		2203	4300	6503	PKP2	SO:0001583	missense	0			-	HGNC	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1839C>A	12.37:g.32975533G>T	ENSP00000070846:p.Asn613Lys	Somatic	0	37	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	39	0	0	57	16.18	11	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.N613K	ENST00000070846.6	37	c.1839	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637682	0.67130	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.84944	-1.92;-1.92	5.05	3.2	0.36748	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.81497	2.545	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.989;0.983	D	0.89744	0.3935	10	0.87932	D	0	-7.0754	7.1379	0.25539	0.3194:0.0:0.6806:0.0	.	569;569;613	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	K	569;613;613	ENSP00000342800:N569K;ENSP00000070846:N613K	ENSP00000070846:N613K	N	-	3	2	PKP2	32866800	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.824000	0.48088	1.114000	0.41781	0.563000	0.77884	AAC	-	superfamily_ARM-type_fold,smart_Armadillo		0.408	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	protein_coding	OTTHUMT00000404449.1	G	NM_004572	-		32975533	-1	no_errors	ENST00000070846	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32975533	G	T	32975533	3	4	161	1	0	0	0	0	1	0	0	0	11987	1252	44	3	830	3	PKP2	12	32975533	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		32975533	100876362	40	11516											
STAB2	55576	genome.wustl.edu	37	chr12	104156110	104156110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcatcctggtgactgGggctgttgccttggctgctt	13	11	1	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr12:104156110G>C	ENST00000388887.2	+	67	7622	c.7418G>C	c.(7417-7419)gGg>gCg	p.G2473A	RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGTGACTGGGGCTGTTGCC	0.478																																																	0								ENSG00000136011						143	128	133					12																	104156110		2203	4300	6503	STAB2	SO:0001583	missense	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7418G>C	12.37:g.104156110G>C	ENSP00000373539:p.Gly2473Ala	Somatic	0	51	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	67	15.19		Missense_Mutation	SNP	36	0	0	37	13.95	6	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2473A	ENST00000388887.2	37	c.7418	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595518	0.46318	.	.	ENSG00000136011	ENST00000388887	T	0.65916	-0.18	5.25	4.34	0.51931	.	0.144413	0.45126	D	0.000390	T	0.77778	0.4181	M	0.74258	2.255	0.35072	D	0.762556	D	0.89917	1.0	D	0.87578	0.998	T	0.82882	-0.0237	10	0.33141	T	0.24	.	15.6735	0.77297	0.0:0.1376:0.8624:0.0	.	2473	Q8WWQ8	STAB2_HUMAN	A	2473	ENSP00000373539:G2473A	ENSP00000373539:G2473A	G	+	2	0	STAB2	102680240	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	3.893000	0.56243	1.178000	0.42870	0.561000	0.74099	GGG	-	NULL		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	G		-		104156110	1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	SNP	0.724	C	C	104156110	G	C	104156110	3	2	161	1	0	0	0	0	1	0	0	0	15245	1232	43	4	7684	4	STAB2	12	104156110	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	71180577	104156110	29695785	41	11517											
RB1	5925	genome.wustl.edu	37	chr13	48951157	48951157	+	Frame_Shift_Del	DEL	A	A	-													tgtgggacagggttgtgtcgAaattggatcacaggtaactt							TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr13:48951157delA	ENST00000267163.4	+	13	1457	c.1319delA	c.(1318-1320)gaafs	p.E440fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	440	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGTTGTGTCGAAATTGGATCA	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139687						107	115	112					13																	48951157		2203	4299	6502	RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1319delA	13.37:g.48951157delA	ENSP00000267163:p.Glu440fs	Somatic	0	48	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	46	0	0	19	52.50	21	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.I441fs	ENST00000267163.4	37	c.1319	CCDS31973.1	13																																																																																			-	pfam_RB_A,superfamily_Cyclin-like		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	A				48951157	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	48951157	A	-	48951157	7	5	161	1	0	1	0	1	0	0	0	0	13106	246	9	0	1369	0	RB1	13	48951157	Frame_Shift_Del	DEL	A	TCGA-IS-A3KA-01A-11D-A21Q-09		48951157	66218721	42	11518											
POTEM	641455	genome.wustl.edu	37	chr14	20007611	20007611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctgtttttctttgtaGtcagaaagtaactggcaaat	8	5	3	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr14:20007611G>A	ENST00000551509.1	-	6	1128	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	359										endometrium(4)|kidney(1)|lung(4)	9						TTTCTTTGTAGTCAGAAAGTA	0.269																																																	0								ENSG00000187537						1	1	1					14																	20007611		2	5	7	POTEM	SO:0001819	synonymous_variant	0			-	HGNC		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1077C>T	14.37:g.20007611G>A		Somatic	0	64	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81		Silent	SNP	13	0	0	14	12.50	2	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D359	ENST00000551509.1	37	c.1077	CCDS45076.1	14																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt		0.269	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	protein_coding	OTTHUMT00000409490.3	G	NM_001145442	-		20007611	-1	no_errors	ENST00000547848	ensembl	human	known	74_37	silent	SNP	0.230	A	A	20007611	G	A	20007611	2	1	161	1	0	0	0	0	0	0	0	1	12270	1020	36	2		2	POTEM	14	20007611	Silent	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		20007611	87341929	43	11519											
LGMN	5641	genome.wustl.edu	37	chr14	93182482	93182482	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccgtaaacagacattaccTcttcaggactttgccggatc	7	12	2	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr14:93182482T>A	ENST00000393218.2	-	6	740	c.403A>T	c.(403-405)Agt>Tgt	p.S135C	LGMN_ENST00000334869.4_Splice_Site_p.S135C|LGMN_ENST00000555699.1_Splice_Site_p.S135C|LGMN_ENST00000557434.1_Splice_Site_p.S135C	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	135					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGACATTACCTCTTCAGGACT	0.468																																																	0								ENSG00000100600						160	138	145					14																	93182482		2203	4300	6503	LGMN	SO:0001630	splice_region_variant	0			-	HGNC	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.404+1A>T	14.37:g.93182482T>A		Somatic	0	53	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	75	12.79	O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	33	0	0	44	18.52	10	pfam_Peptidase_C13,prints_Peptidase_C13	p.S135C	ENST00000393218.2	37	c.403	CCDS9904.1	14	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705494	0.89018	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802	T;T;T;T;T	0.58506	0.52;0.49;0.55;0.49;0.33	5.51	5.51	0.81932	.	0.181563	0.64402	D	0.000001	D	0.84960	0.5588	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.90629	0.4565	10	0.87932	D	0	-31.54	15.5875	0.76495	0.0:0.0:0.0:1.0	.	135;135;135	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	C	135;135;135;135;135;135;112;100;126	ENSP00000451861:S135C;ENSP00000334052:S135C;ENSP00000452572:S135C;ENSP00000376911:S135C;ENSP00000450854:S126C	ENSP00000262004:S135C	S	-	1	0	LGMN	92252235	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.238000	0.78173	2.232000	0.73038	0.533000	0.62120	AGT	-	pfam_Peptidase_C13,prints_Peptidase_C13		0.468	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LGMN	protein_coding	OTTHUMT00000412288.1	T	NM_005606	-	Missense_Mutation	93182482	-1	no_errors	ENST00000334869	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93182482	T	A	93182482	5	1	161	1	0	0	0	0	0	0	1	0	8757	1565	54	5	938	5	LGMN	14	93182482	Splice_Site	SNP	T	TCGA-IS-A3KA-01A-11D-A21Q-09	73174871	93182482	14167058	44	11520											
XRCC3	7517	genome.wustl.edu	37	chr14	104165290	104165290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagccggtcagccagcaGtctcaccaggagctggttag	15	12	2	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr14:104165290G>A	ENST00000553264.1	-	8	1682	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	KLC1_ENST00000555836.1_Intron|XRCC3_ENST00000352127.7_Silent_p.L296L|RP11-73M18.8_ENST00000602422.1_RNA|KLC1_ENST00000557450.1_Intron|XRCC3_ENST00000554974.1_Silent_p.L91L|KLC1_ENST00000452929.2_Intron|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000445556.1_Silent_p.L296L|XRCC3_ENST00000554913.1_Silent_p.L296L|XRCC3_ENST00000555055.1_Silent_p.L296L|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000334553.6_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	296					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		TCAGCCAGCAGTCTCACCAGG	0.667								Direct reversal of damage;Homologous recombination																																									0								ENSG00000126215						23	21	22					14																	104165290		2195	4299	6494	XRCC3	SO:0001819	synonymous_variant	0			-	HGNC	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"RAD51-like"	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.886C>T	14.37:g.104165290G>A		Somatic	0	24	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	O43568|Q9BU18	Silent	SNP	29	0	0	33	35.29	18	pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L296	ENST00000553264.1	37	c.886	CCDS9984.1	14																																																																																			-	pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like		0.667	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC3	protein_coding	OTTHUMT00000414631.1	G	NM_005432	-		104165290	-1	no_errors	ENST00000352127	ensembl	human	known	74_37	silent	SNP	1.000	A	A	104165290	G	A	104165290	2	1	161	1	0	0	0	0	0	0	0	1	17461	1020	36	2		2	XRCC3	14	104165290	Silent	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	10982808	104165290	3184250	45	11521											
OR4M2	390538	genome.wustl.edu	37	chr15	22368626	22368626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgttctcactggcctAtcccagactccagaggtcca	8	13	1	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr15:22368626A>G	ENST00000332663.2	+	1	149	c.51A>G	c.(49-51)ctA>ctG	p.L17L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	17						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(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCACTGGCCTATCCCAGACTC	0.348																																																	0								ENSG00000182974						265	234	245					15																	22368626		2203	4300	6503	OR4M2	SO:0001819	synonymous_variant	0			-	HGNC	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.51A>G	15.37:g.22368626A>G		Somatic	0	138	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	75	21.05	B9EH16|Q6IEY2	Silent	SNP	105	0	0	130	16.13	25	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L17	ENST00000332663.2	37	c.51	CCDS32172.1	15																																																																																			-	NULL		0.348	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	protein_coding	OTTHUMT00000414921.1	A		-		22368626	1	no_errors	ENST00000332663	ensembl	human	putative	74_37	silent	SNP	0.984	G	G	22368626	A	G	22368626	2	3	161	1	0	0	0	0	0	0	0	1	11078	436	16	5		5	OR4M2	15	22368626	Silent	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09		22368626	80162766	46	11522											
C15orf55	256646	genome.wustl.edu	37	chr15	34649175	34649175	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcttacacaactgggactcCcaaagcaacatcttctcacc	5	15	3	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr15:34649175C>G	ENST00000333756.4	+	7	3037	c.2882C>G	c.(2881-2883)cCc>cGc	p.P961R	NUTM1_ENST00000537011.1_Missense_Mutation_p.P989R|NUTM1_ENST00000438749.3_Missense_Mutation_p.P979R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	961						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACTGGGACTCCCAAAGCAACA	0.488																																																	0								ENSG00000184507						55	51	53					15																	34649175		2201	4298	6499	NUTM1	SO:0001583	missense	0			-	HGNC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2882C>G	15.37:g.34649175C>G	ENSP00000329448:p.Pro961Arg	Somatic	0	32	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	34	0	0	47	20.34	12	NULL	p.P961R	ENST00000333756.4	37	c.2882	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317659	0.10845	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08102	3.13;3.13;3.14	5.3	-0.119	0.13543	.	0.463917	0.20520	N	0.090709	T	0.06962	0.0177	L	0.54323	1.7	0.09310	N	1	B;B;B	0.20887	0.029;0.049;0.006	B;B;B	0.19666	0.016;0.026;0.008	T	0.31138	-0.9954	10	0.62326	D	0.03	.	1.4332	0.02338	0.1491:0.4545:0.1449:0.2516	.	979;989;961	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	989;979;961	ENSP00000444896:P989R;ENSP00000407031:P979R;ENSP00000329448:P961R	ENSP00000329448:P961R	P	+	2	0	C15orf55	32436467	0.000000	0.05858	0.011000	0.14972	0.008000	0.06430	0.079000	0.14782	0.094000	0.17404	-0.137000	0.14449	CCC	-	NULL		0.488	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	protein_coding	OTTHUMT00000418026.1	C	NM_175741	-		34649175	1	no_errors	ENST00000333756	ensembl	human	known	74_37	missense	SNP	0.002	G	G	34649175	C	G	34649175	3	3	161	1	0	0	0	0	1	0	0	0	1805	623	22	4	2908	4	C15orf55	15	34649175	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	12280549	34649175	67882217	47	11523											
PLCB2	5330	genome.wustl.edu	37	chr15	40591138	40591138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatttggtcaggtgctccttCgtcatgtagggtttggcctt	12	8	2	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr15:40591138C>T	ENST00000260402.3	-	9	960	c.711G>A	c.(709-711)acG>acA	p.T237T	PLCB2_ENST00000456256.2_Silent_p.T237T|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.T237T	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	237					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGTGCTCCTTCGTCATGTAGG	0.577																																																	0								ENSG00000137841						94	98	97					15																	40591138		2031	4182	6213	PLCB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.711G>A	15.37:g.40591138C>T		Somatic	0	71	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	130	10.96	A8K6J2|B9EGH5	Silent	SNP	37	0	0	55	15.38	10	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.T237	ENST00000260402.3	37	c.711	CCDS42020.1	15																																																																																			-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	protein_coding	OTTHUMT00000418430.1	C		-		40591138	-1	no_errors	ENST00000260402	ensembl	human	known	74_37	silent	SNP	0.989	T	T	40591138	C	T	40591138	2	4	161	1	0	0	0	0	0	0	0	1	12030	871	31	1		1	PLCB2	15	40591138	Silent	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	5941963	40591138	61940254	48	11524											
NPTN	27020	genome.wustl.edu	37	chr15	73879883	73879883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttcacttcaatggtggCgtttgctttaggagcgctga	11	9	2	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr15:73879883C>T	ENST00000345330.4	-	4	885	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	NPTN_ENST00000545878.1_Missense_Mutation_p.A230T|NPTN_ENST00000351217.6_Missense_Mutation_p.A114T|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000562924.1_Missense_Mutation_p.A114T|NPTN_ENST00000563691.1_Missense_Mutation_p.A230T|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000287226.8_Missense_Mutation_p.A230T	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	230	Ig-like 2.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)	p.A230T(2)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCAATGGTGGCGTTTGCTTTA	0.498																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|prostate(1)						ENSG00000156642						131	120	124					15																	73879883		2198	4297	6495	NPTN	SO:0001583	missense	0			-	HGNC	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17867	protein-coding gene	gene with protein product		612820	"stromal cell derived factor receptor 1"	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.688G>A	15.37:g.73879883C>T	ENSP00000290401:p.Ala230Thr	Somatic	0	42	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	31	0	0	50	9.09	5	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A230T	ENST00000345330.4	37	c.688	CCDS10249.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.441587	0.96187	.	.	ENSG00000156642	ENST00000345330;ENST00000351217;ENST00000545878;ENST00000287226	T;T;T;T	0.37752	1.18;2.91;2.8;2.91	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.954;0.989;0.973;0.981	T	0.67975	-0.5531	10	0.66056	D	0.02	.	19.5805	0.95465	0.0:1.0:0.0:0.0	.	230;114;230;114	Q9Y639-5;B2RAL7;Q9Y639;Q9Y639-3	.;.;NPTN_HUMAN;.	T	230;114;230;230	ENSP00000290401:A230T;ENSP00000342958:A114T;ENSP00000444548:A230T;ENSP00000287226:A230T	ENSP00000287226:A230T	A	-	1	0	NPTN	71666936	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.627000	0.46469	2.616000	0.88540	0.563000	0.77884	GCC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.498	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	protein_coding	OTTHUMT00000268980.1	C	NM_012428	-		73879883	-1	no_errors	ENST00000345330	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73879883	C	T	73879883	3	4	161	1	0	0	0	0	1	0	0	0	10603	768	27	1	528	1	NPTN	15	73879883	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	33288745	73879883	28651509	49	11525											
ACAN	176	genome.wustl.edu	37	chr15	89398733	89398733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctggagtaggagacCtcagtgggcttccttctgga	13	11	3	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr15:89398733C>T	ENST00000561243.1	+	11	2917	c.2917C>T	c.(2917-2919)Ctc>Ttc	p.L973F	ACAN_ENST00000352105.7_Missense_Mutation_p.L973F|ACAN_ENST00000559004.1_Missense_Mutation_p.L973F|ACAN_ENST00000439576.2_Missense_Mutation_p.L973F			P16112	PGCA_HUMAN	aggrecan	972	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				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)			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)			AGTAGGAGACCTCAGTGGGCT	0.557																																																	0								ENSG00000157766						142	146	145					15																	89398733		1842	4088	5930	ACAN	SO:0001583	missense	0			-	HGNC	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.2917C>T	15.37:g.89398733C>T	ENSP00000453342:p.Leu973Phe	Somatic	0	71	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	69	14.81	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	34	0	0	68	17.86	15	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.L973F	ENST00000561243.1	37	c.2917	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907249	0.17833	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96685	-4.09;-4.09	4.48	-1.44	0.08856	.	1.458670	0.05162	N	0.497976	D	0.96361	0.8813	M	0.71036	2.16	0.09310	N	1	D;D	0.59357	0.985;0.985	P;P	0.61477	0.889;0.889	D	0.87909	0.2696	10	0.13853	T	0.58	-2.7456	4.1285	0.10138	0.543:0.2503:0.1224:0.0842	.	973;973	E7ENV9;E7EX88	.;.	F	973	ENSP00000387356:L973F;ENSP00000341615:L973F	ENSP00000268134:L973F	L	+	1	0	ACAN	87199737	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.178000	0.03093	-0.158000	0.11040	-0.311000	0.09066	CTC	-	NULL		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135	-		89398733	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	0.000	T	T	89398733	C	T	89398733	3	4	161	1	0	0	0	0	1	0	0	0	117	681	24	2	2959	2	ACAN	15	89398733	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	15518850	89398733	13132659	50	11526											
IQCK	124152	genome.wustl.edu	37	chr16	19800230	19800230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctctacattcaatccttcTggagagcctgtgtggtaaga	9	11	3	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr16:19800230T>A	ENST00000320394.6	+	8	1375	c.676T>A	c.(676-678)Tgg>Agg	p.W226R	IQCK_ENST00000564186.1_Missense_Mutation_p.W226R|IQCK_ENST00000433597.2_Missense_Mutation_p.W138R|IQCK_ENST00000541926.1_Intron|IQCK_ENST00000562762.1_3'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	226										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCAATCCTTCTGGAGAGCCTG	0.478																																																	0								ENSG00000174628						109	106	107					16																	19800230		2197	4300	6497	IQCK	SO:0001583	missense	0			-	HGNC	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.676T>A	16.37:g.19800230T>A	ENSP00000324901:p.Trp226Arg	Somatic	0	62	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	54	34.15	B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	43	0	0	40	38.46	25	NULL	p.W226R	ENST00000320394.6	37	c.676	CCDS10580.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.66|18.66	3.671814|3.671814	0.67928|0.67928	.|.	.|.	ENSG00000174628|ENSG00000174628	ENST00000308214|ENST00000320394;ENST00000433597	.|T;T	.|0.24350	.|1.86;1.86	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.51477	.|D	.|0.000090	T|T	0.49779|0.49779	0.1577|0.1577	M|M	0.70275|0.70275	2.135|2.135	0.44345|0.44345	D|D	0.997239|0.997239	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.48007|0.48007	-0.9072|-0.9072	5|9	.|.	.|.	.|.	-11.6879|-11.6879	14.0439|14.0439	0.64693|0.64693	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|226	.|Q8N0W5	.|IQCK_HUMAN	Q|R	182|226;138	.|ENSP00000324901:W226R;ENSP00000406013:W138R	.|.	L|W	+|+	2|1	0|0	IQCK|IQCK	19707731|19707731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.655000|0.655000	0.38815|0.38815	4.848000|4.848000	0.62874|0.62874	2.125000|2.125000	0.65367|0.65367	0.533000|0.533000	0.62120|0.62120	CTG|TGG	-	NULL		0.478	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCK	protein_coding	OTTHUMT00000254273.2	T	NM_153208	-		19800230	1	no_errors	ENST00000320394	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19800230	T	A	19800230	3	1	161	1	0	0	0	0	1	0	0	0	7815	1580	55	5	702	5	IQCK	16	19800230	Missense_Mutation	SNP	T	TCGA-IS-A3KA-01A-11D-A21Q-09		19800230	70554523	51	11527											
TP53	7157	genome.wustl.edu	37	chr17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctcggaacatctcgaagCgctcacgcccacggatctgc	10	16	4	0	rs121912664		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|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	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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	GRCh37	CM012663	TP53	M	rs121912664	ENSG00000141510						57	45	49					17																	7574017		2203	4300	6503	TP53	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;	-	HGNC	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.1010G>T	17.37:g.7574017C>A	ENSP00000269305:p.Arg337Leu	Somatic	0	20	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	4	83.33	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	27	0	0	21	68.18	45	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R337L	ENST00000269305.4	37	c.1010	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539589	0.45176	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95137	-3.62;-3.62	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.82323	2.585	0.42190	D	0.991726	D	0.65815	0.995	D	0.66716	0.946	D	0.95854	0.8877	10	0.66056	D	0.02	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	L	337;337;326	ENSP00000269305:R337L;ENSP00000391478:R337L	ENSP00000269305:R337L	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7574017	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.896	A	A	7574017	C	A	7574017	3	1	161	1	0	0	0	0	1	0	0	0	16388	768	27	3	179	3	TP53	17	7574017	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		7574017	73621193	52	11528											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8218893	8218893	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagggagtcagcgagcgGtcagtggctttccgtccttc	14	12	2	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr17:8218893G>T	ENST00000361926.3	+	7	1531		c.e7+1		ARHGEF15_ENST00000421050.1_Splice_Site|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15						negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCAGCGAGCGGTCAGTGGCTT	0.627																																																	0								ENSG00000198844						69	56	60					17																	8218893		2203	4300	6503	ARHGEF15	SO:0001630	splice_region_variant	0			-	HGNC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1421+1G>T	17.37:g.8218893G>T		Somatic	0	34	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A8K6G1|Q8N449|Q9H8B4	Splice_Site	SNP	27	0	0	36	26.53	13	-	e6+1	ENST00000361926.3	37	c.1421+1	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623867	0.66901	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9743	0.64262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF15	8159618	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.579000	0.82511	2.686000	0.91538	0.561000	0.74099	.	-	-		0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	protein_coding	OTTHUMT00000226993.2	G	NM_173728	-	Intron	8218893	1	no_errors	ENST00000361926	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	8218893	G	T	8218893	5	4	161	1	0	0	0	0	0	0	1	0	898	1275	44	3	1444	3	ARHGEF15	17	8218893	Splice_Site	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	644876	8218893	72976317	53	11529											
ANKFN1	162282	genome.wustl.edu	37	chr17	54554883	54554883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaggagtcatcagcGtctctttcctggattatatc	7	10	4	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr17:54554883G>A	ENST00000318698.2	+	15	1852	c.1817G>A	c.(1816-1818)cGt>cAt	p.R606H	ANKFN1_ENST00000566473.2_Missense_Mutation_p.R606H	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	606										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGTCATCAGCGTCTCTTTCCT	0.378																																																	0								ENSG00000153930						112	104	107					17																	54554883		2203	4300	6503	ANKFN1	SO:0001583	missense	0			-	HGNC	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1817G>A	17.37:g.54554883G>A	ENSP00000321627:p.Arg606His	Somatic	0	36	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	11	56.00		Missense_Mutation	SNP	23	0	0	20	51.22	21	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.R606H	ENST00000318698.2	37	c.1817	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847275	0.71603	.	.	ENSG00000153930	ENST00000318698	T	0.25579	1.79	5.82	5.82	0.92795	.	0.101764	0.64402	D	0.000003	T	0.37210	0.0995	L	0.61218	1.895	0.50313	D	0.999862	D	0.61697	0.99	P	0.46299	0.511	T	0.16928	-1.0386	10	0.62326	D	0.03	-9.4834	20.1012	0.97876	0.0:0.0:1.0:0.0	.	606	Q8N957	ANKF1_HUMAN	H	606	ENSP00000321627:R606H	ENSP00000321627:R606H	R	+	2	0	ANKFN1	51909882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.779000	0.62375	2.754000	0.94517	0.650000	0.86243	CGT	-	NULL		0.378	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	protein_coding	OTTHUMT00000338043.1	G	NM_153228	-		54554883	1	no_errors	ENST00000318698	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54554883	G	A	54554883	3	1	161	1	0	0	0	0	1	0	0	0	625	1145	40	1	1875	1	ANKFN1	17	54554883	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	46335990	54554883	26640327	54	11530											
AZI1	22994	genome.wustl.edu	37	chr17	79173312	79173312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgctcggcagtgctcGccttctgggctctcagggct	13	16	2	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr17:79173312G>T	ENST00000269392.4	-	10	1308	c.1061C>A	c.(1060-1062)gCg>gAg	p.A354E	AZI1_ENST00000575907.1_Missense_Mutation_p.A354E|AZI1_ENST00000450824.2_Missense_Mutation_p.A354E|AZI1_ENST00000374782.3_Missense_Mutation_p.A354E|AZI1_ENST00000570482.2_5'Flank|RP11-455O6.2_ENST00000571085.1_RNA	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		354					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCAGTGCTCGCCTTCTGGGC	0.652																																																	0								ENSG00000141577						40	31	34					17																	79173312		2192	4295	6487	AZI1	SO:0001583	missense	0			-	HGNC																												ENST00000269392.4:c.1061C>A	17.37:g.79173312G>T	ENSP00000269392:p.Ala354Glu	Somatic	0	44	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	99	8.33	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	24	0	0	45	6.25	3	superfamily_t-SNARE	p.A354E	ENST00000269392.4	37	c.1061		17	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127383	0.37533	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.30448	1.53;1.53;1.53	4.33	2.26	0.28386	.	0.815154	0.10370	N	0.682887	T	0.26955	0.0660	L	0.34521	1.04	0.09310	N	1	P;P;D;P	0.60575	0.688;0.815;0.988;0.815	B;B;P;B	0.51324	0.209;0.287;0.666;0.287	T	0.08229	-1.0732	10	0.10111	T	0.7	.	6.3599	0.21422	0.0977:0.0:0.7222:0.1801	.	354;354;354;354	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	E	354	ENSP00000393583:A354E;ENSP00000363914:A354E;ENSP00000269392:A354E	ENSP00000269392:A354E	A	-	2	0	AZI1	76787907	0.000000	0.05858	0.057000	0.19452	0.048000	0.14542	0.577000	0.23758	0.422000	0.26005	-0.657000	0.03884	GCG	-	NULL		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	protein_coding	OTTHUMT00000256070.1	G		-		79173312	-1	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	SNP	0.005	T	T	79173312	G	T	79173312	3	4	161	1	0	0	0	0	1	0	0	0	1240	1087	38	3	2249	3	AZI1	17	79173312	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	24618429	79173312	2021898	55	11531											
RIT2	6014	genome.wustl.edu	37	chr18	40503652	40503652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcctgaaatgattgaCggtcagtgacggagtagcag	13	9	1	4			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr18:40503652C>T	ENST00000326695.5	-	4	482	c.311G>A	c.(310-312)cGt>cAt	p.R104H	RIT2_ENST00000589109.1_Missense_Mutation_p.R104H|RIT2_ENST00000282028.4_Missense_Mutation_p.R104H|RIT2_ENST00000590910.1_Missense_Mutation_p.V125I	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	104					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAATGATTGACGGTCAGTGAC	0.468																																																	0								ENSG00000152214						218	222	220					18																	40503652		2203	4300	6503	RIT2	SO:0001583	missense	0			-	HGNC	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"Ric (Drosophila)-like, expressed in neurons"	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.311G>A	18.37:g.40503652C>T	ENSP00000321805:p.Arg104His	Somatic	0	28	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	30	3.23	1	40	36.51	23	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R104H	ENST00000326695.5	37	c.311	CCDS11921.1	18	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664843	0.88251	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.78364	-1.17;-1.17	5.45	4.58	0.56647	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000002	D	0.86920	0.6049	M	0.81802	2.56	0.48087	D	0.99958	D;D	0.89917	1.0;1.0	D;D	0.63703	0.917;0.911	D	0.88331	0.2968	10	0.56958	D	0.05	.	14.4894	0.67639	0.0:0.9291:0.0:0.0709	.	104;104	Q99578-2;Q99578	.;RIT2_HUMAN	H	104	ENSP00000321805:R104H;ENSP00000282028:R104H	ENSP00000282028:R104H	R	-	2	0	RIT2	38757650	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.704000	0.54815	1.444000	0.47605	0.655000	0.94253	CGT	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.468	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT2	protein_coding	OTTHUMT00000255852.1	C	NM_002930	-		40503652	-1	no_errors	ENST00000326695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40503652	C	T	40503652	3	4	161	1	0	0	0	0	1	0	0	0	13395	536	19	1	350	1	RIT2	18	40503652	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		40503652	37573596	56	11532											
FCHO1	23149	genome.wustl.edu	37	chr19	17886830	17886830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttctcgtccagcgactccGacttcgacgatgaagagccc	10	14	1	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr19:17886830G>A	ENST00000596536.1	+	16	1325	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	FCHO1_ENST00000595033.1_Missense_Mutation_p.D298N|FCHO1_ENST00000600676.1_Missense_Mutation_p.D348N|FCHO1_ENST00000389133.4_Missense_Mutation_p.D348N|FCHO1_ENST00000596951.1_Missense_Mutation_p.D348N|FCHO1_ENST00000539407.1_Missense_Mutation_p.D348N|FCHO1_ENST00000252771.7_Missense_Mutation_p.D348N|FCHO1_ENST00000594202.1_Missense_Mutation_p.D348N|FCHO1_ENST00000597512.1_Missense_Mutation_p.D355N	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	348	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCGACTCCGACTTCGACGA	0.642											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000130475						50	52	51					19																	17886830		2203	4300	6503	FCHO1	SO:0001583	missense	0			-	HGNC	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1042G>A	19.37:g.17886830G>A	ENSP00000470731:p.Asp348Asn	Somatic	0	62	0	721	0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	91	12.50	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	29	0	0	27	12.90	4	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.D348N	ENST00000596536.1	37	c.1042	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959749	0.74016	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.48522	0.81;0.81;0.81	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.72894	2.215	0.54753	D	0.999982	D;D	0.76494	0.997;0.999	P;P	0.62014	0.791;0.897	T	0.62840	-0.6769	10	0.37606	T	0.19	-25.5542	12.8696	0.57957	0.0:0.0:1.0:0.0	.	348;348	O14526;O14526-2	FCHO1_HUMAN;.	N	348	ENSP00000252771:D348N;ENSP00000373785:D348N;ENSP00000437978:D348N	ENSP00000252771:D348N	D	+	1	0	FCHO1	17747830	1.000000	0.71417	0.517000	0.27799	0.286000	0.27126	8.183000	0.89700	2.078000	0.62432	0.491000	0.48974	GAC	-	NULL		0.642	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	protein_coding	OTTHUMT00000466946.2	G	NM_015122	-		17886830	1	no_errors	ENST00000252771	ensembl	human	known	74_37	missense	SNP	0.994	A	A	17886830	G	A	17886830	3	1	161	1	0	0	0	0	1	0	0	0	5789	1058	37	1	1092	1	FCHO1	19	17886830	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		17886830	41242153	57	11533											
DMPK	1760	genome.wustl.edu	37	chr19	46275980	46275980	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctgctcggcctccagttcCatgggtgtggggcctgggac	16	12	0	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr19:46275980C>G	ENST00000291270.4	-	10	1388	c.1263G>C	c.(1261-1263)atG>atC	p.M421I	AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000447742.2_Missense_Mutation_p.M416I|DMPK_ENST00000354227.5_Missense_Mutation_p.M416I|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.M416I|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Missense_Mutation_p.M426I|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000343373.4_Missense_Mutation_p.M431I|AC074212.6_ENST00000586498.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	421					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCTCCAGTTCCATGGGTGTGG	0.617																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0								ENSG00000104936						41	42	42					19																	46275980		2203	4300	6503	DMPK	SO:0001583	missense	0			-	HGNC	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1263G>C	19.37:g.46275980C>G	ENSP00000291270:p.Met421Ile	Somatic	0	44	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	87	20.18	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	27	0	0	36	12.20	5	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.M431I	ENST00000291270.4	37	c.1293	CCDS12674.1	19	.	.	.	.	.	.	.	.	.	.	c	13.63	2.293352	0.40594	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.66099	-0.19;-0.17;-0.18;-0.18;-0.11	3.87	3.87	0.44632	AGC-kinase, C-terminal (1);	0.000000	0.52532	D	0.000072	T	0.53254	0.1785	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B;B;B;B	0.32781	0.065;0.228;0.274;0.085;0.146;0.062;0.384;0.179	B;B;B;B;B;B;B;B	0.31290	0.098;0.083;0.112;0.026;0.038;0.036;0.127;0.058	T	0.54788	-0.8241	10	0.35671	T	0.21	.	11.5239	0.50569	0.0:1.0:0.0:0.0	.	416;421;447;416;416;421;463;431	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	I	416;447;421;416;416;431;431;416	ENSP00000401753:M416I;ENSP00000291270:M421I;ENSP00000413417:M416I;ENSP00000345997:M431I;ENSP00000346168:M416I	ENSP00000291270:M421I	M	-	3	0	DMPK	50967820	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.947000	0.40293	2.157000	0.67596	0.561000	0.74099	ATG	-	NULL		0.617	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	protein_coding	OTTHUMT00000460572.1	C	NM_004409	-		46275980	-1	no_errors	ENST00000343373	ensembl	human	known	74_37	missense	SNP	1.000	G	G	46275980	C	G	46275980	3	3	161	1	0	0	0	0	1	0	0	0	4586	594	21	4	657	4	DMPK	19	46275980	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	28389150	46275980	12853003	58	11534											
TSKS	60385	genome.wustl.edu	37	chr19	50247562	50247562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcaggccctcttcgagagttCtgaaattgccgcccgaactc	9	14	3	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr19:50247562C>G	ENST00000246801.3	-	8	1369	c.1287G>C	c.(1285-1287)caG>caC	p.Q429H	TSKS_ENST00000358830.3_Missense_Mutation_p.Q229H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	429					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)		TTCGAGAGTTCTGAAATTGCC	0.622																																																	0								ENSG00000126467						78	70	73					19																	50247562		2203	4300	6503	TSKS	SO:0001583	missense	0			-	HGNC	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.1287G>C	19.37:g.50247562C>G	ENSP00000246801:p.Gln429His	Somatic	0	28	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	21	47.50	Q8WXJ0	Missense_Mutation	SNP	31	0	0	23	43.90	18	NULL	p.Q429H	ENST00000246801.3	37	c.1287	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092320	0.55968	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.32272	1.46;1.46	4.85	1.25	0.21368	.	0.485483	0.18165	N	0.149647	T	0.24509	0.0594	L	0.27053	0.805	0.26749	N	0.970242	P	0.43094	0.799	P	0.48141	0.568	T	0.07347	-1.0777	10	0.72032	D	0.01	-25.947	4.6896	0.12774	0.0:0.6006:0.1942:0.2052	.	429	Q9UJT2	TSKS_HUMAN	H	429;229	ENSP00000246801:Q429H;ENSP00000351691:Q229H	ENSP00000246801:Q429H	Q	-	3	2	TSKS	54939374	0.498000	0.26075	1.000000	0.80357	0.985000	0.73830	-0.055000	0.11807	0.616000	0.30141	0.555000	0.69702	CAG	-	NULL		0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	C	NM_021733	-		50247562	-1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	SNP	0.974	G	G	50247562	C	G	50247562	3	3	161	1	0	0	0	0	1	0	0	0	16633	912	32	4	507	4	TSKS	19	50247562	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	3971582	50247562	8881421	59	11535											
HSPA12B	116835	genome.wustl.edu	37	chr20	3729966	3729966	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcagagatgcaagcagGtagggggaaagggggacgga	22	4	0	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr20:3729966G>C	ENST00000254963.2	+	9	1082		c.e9+1		HSPA12B_ENST00000542646.1_Splice_Site	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B								ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ATGCAAGCAGGTAGGGGGAAA	0.627																																																	0								ENSG00000132622						55	55	55					20																	3729966		2203	4300	6503	HSPA12B	SO:0001630	splice_region_variant	0			-	HGNC	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.937+1G>C	20.37:g.3729966G>C		Somatic	0	45	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	72	25.77	D3DVX7|Q2TAK3|Q9BR52	Splice_Site	SNP	38	0	0	48	21.31	13	-	e8+1	ENST00000254963.2	37	c.937+1	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275400	0.80580	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6736	0.85273	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSPA12B	3677966	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	9.430000	0.97488	2.537000	0.85549	0.561000	0.74099	.	-	-		0.627	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	protein_coding	OTTHUMT00000077756.2	G	NM_052970	-	Intron	3729966	1	no_errors	ENST00000254963	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	3729966	G	C	3729966	5	2	161	1	0	0	0	0	0	0	1	0	7407	1275	44	4	968	4	HSPA12B	20	3729966	Splice_Site	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		3729966	59295554	60	11536											
DOPEY2	9980	genome.wustl.edu	37	chr21	37617593	37617593	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggcccacggcgccccggaCagcagcgagcacaccgagtc	13	18	0	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr21:37617593C>G	ENST00000399151.3	+	19	3400	c.3315C>G	c.(3313-3315)gaC>gaG	p.D1105E		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1105					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						GCGCCCCGGACAGCAGCGAGC	0.642																																																	0								ENSG00000142197						120	88	99					21																	37617593		2203	4300	6503	DOPEY2	SO:0001583	missense	0			-	HGNC	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.3315C>G	21.37:g.37617593C>G	ENSP00000382104:p.Asp1105Glu	Somatic	0	10	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	28	0	0	29	40.82	20	pfam_Dopey_N	p.D1105E	ENST00000399151.3	37	c.3315	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059765	0.08339	.	.	ENSG00000142197	ENST00000399151	T	0.26373	1.74	5.36	2.41	0.29592	.	0.520028	0.20825	N	0.084988	T	0.20210	0.0486	L	0.49350	1.555	0.32917	D	0.515257	B;B	0.13594	0.008;0.004	B;B	0.15870	0.014;0.006	T	0.14615	-1.0466	10	0.27785	T	0.31	.	6.9775	0.24683	0.0:0.5937:0.1332:0.273	.	1105;1105	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	E	1105	ENSP00000382104:D1105E	ENSP00000382104:D1105E	D	+	3	2	DOPEY2	36539463	0.320000	0.24616	0.971000	0.41717	0.292000	0.27327	-0.651000	0.05372	0.685000	0.31468	0.650000	0.86243	GAC	-	NULL		0.642	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	C	NM_005128	-		37617593	1	no_errors	ENST00000399151	ensembl	human	known	74_37	missense	SNP	0.987	G	G	37617593	C	G	37617593	3	3	161	1	0	0	0	0	1	0	0	0	4710	477	17	4	3385	4	DOPEY2	21	37617593	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09		37617593	10512302	61	11537											
SERPIND1	3053	genome.wustl.edu	37	chr22	21138335	21138335	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagagagaggtagttaAggtttccatgatgcagacca	13	5	0	4			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr22:21138335A>T	ENST00000215727.5	+	3	1248	c.965A>T	c.(964-966)aAg>aTg	p.K322M	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.K322M	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	322					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)|Sulodexide(DB06271)	GAGGTAGTTAAGGTTTCCATG	0.522											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000099937						166	149	155					22																	21138335		2203	4300	6503	SERPIND1	SO:0001583	missense	0			-	HGNC	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.965A>T	22.37:g.21138335A>T	ENSP00000215727:p.Lys322Met	Somatic	0	36	0	746	0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	59	18.06	B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	42	0	0	37	27.45	14	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K322M	ENST00000215727.5	37	c.965	CCDS13783.1	22	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425615	0.62733	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.85339	-1.97;-1.97	4.25	4.25	0.50352	Serpin domain (3);	0.049932	0.85682	D	0.000000	D	0.84497	0.5485	M	0.62154	1.92	0.51012	D	0.999909	P;P	0.35894	0.526;0.526	B;B	0.39971	0.315;0.315	D	0.85319	0.1083	10	0.49607	T	0.09	.	13.8128	0.63273	1.0:0.0:0.0:0.0	.	322;322	Q8IVC0;P05546	.;HEP2_HUMAN	M	322	ENSP00000215727:K322M;ENSP00000384050:K322M	ENSP00000215727:K322M	K	+	2	0	SERPIND1	19468335	1.000000	0.71417	0.932000	0.37286	0.783000	0.44284	5.892000	0.69790	1.913000	0.55393	0.533000	0.62120	AAG	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.522	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	protein_coding	OTTHUMT00000319961.1	A	NM_000185	-		21138335	1	no_errors	ENST00000215727	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21138335	A	T	21138335	3	4	161	1	0	0	0	0	1	0	0	0	14118	72	3	5	971	5	SERPIND1	22	21138335	Missense_Mutation	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09		21138335	30166231	62	11538											
SREBF2	6721	genome.wustl.edu	37	chr22	42276779	42276779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagttttgggccgggcActgcccacctcccgcctgga	13	16	0	0			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chr22:42276779A>G	ENST00000361204.4	+	10	1987	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	607					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						TGGGCCGGGCACTGCCCACCT	0.587																																																	0								ENSG00000198911						49	53	52					22																	42276779		2203	4300	6503	SREBF2	SO:0001819	synonymous_variant	0			-	HGNC	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.1821A>G	22.37:g.42276779A>G		Somatic	0	46	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	56	25.33	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	28	0	0	23	38.46	15	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T641A	ENST00000361204.4	37	c.1921	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	A	10.23	1.294067	0.23564	.	.	ENSG00000198911	ENST00000444813	.	.	.	4.95	-9.89	0.00464	.	.	.	.	.	T	0.41880	0.1178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	-7.2948	4.9726	0.14123	0.3077:0.1776:0.427:0.0877	.	.	.	.	A	641	.	.	T	+	1	0	SREBF2	40606725	0.000000	0.05858	0.530000	0.27963	0.845000	0.48019	-3.534000	0.00439	-2.328000	0.00635	-0.436000	0.05848	ACT	-	NULL		0.587	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	protein_coding	OTTHUMT00000321956.1	A	NM_004599	-		42276779	1	no_errors	ENST00000424354	ensembl	human	known	74_37	missense	SNP	0.045	G	G	42276779	A	G	42276779	2	3	161	1	0	0	0	0	0	0	0	1	15149	146	6	5		5	SREBF2	22	42276779	Silent	SNP	A	TCGA-IS-A3KA-01A-11D-A21Q-09	21138444	42276779	9027787	63	11539											
RS1	6247	genome.wustl.edu	37	chrX	18660178	18660178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccggatggcaatgcggacGtgccagcccagcgggatgag	16	11	0	1	rs281865360		TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chrX:18660178G>A	ENST00000379984.3	-	6	661	c.621C>T	c.(619-621)caC>caT	p.H207H	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	207	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		H -> Q (in XLRS1).		adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CAATGCGGACGTGCCAGCCCA	0.652																																																	0			GRCh37	CM981771	RS1	M		ENSG00000102104						62	56	58					X																	18660178		2203	4300	6503	RS1	SO:0001819	synonymous_variant	0			-	HGNC	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.621C>T	X.37:g.18660178G>A		Somatic	0	69	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	126	23.64	Q0QD39	Silent	SNP	28	0	0	37	19.57	9	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.H207	ENST00000379984.3	37	c.621	CCDS14187.1	X																																																																																			-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.652	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	protein_coding	OTTHUMT00000055949.1	G		-		18660178	-1	no_errors	ENST00000379984	ensembl	human	known	74_37	silent	SNP	0.995	A	A	18660178	G	A	18660178	2	1	161	1	0	0	0	0	0	0	0	1	13701	1136	40	1		1	RS1	23	18660178	Silent	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09		18660178	136610382	64	11540											
UBA1	7317	genome.wustl.edu	37	chrX	47060958	47060958	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctccttttcagaagtaCagggcatggttgaactcaac	9	9	3	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chrX:47060958C>T	ENST00000335972.6	+	8	943	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	UBA1_ENST00000377351.4_Nonsense_Mutation_p.Q254*	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	254	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCAGAAGTACAGGGCATGGT	0.537																																																	0								ENSG00000130985						40	33	35					X																	47060958		2203	4300	6503	UBA1	SO:0001587	stop_gained	0			-	HGNC	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.760C>T	X.37:g.47060958C>T	ENSP00000338413:p.Gln254*	Somatic	0	33	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	68	22.73	Q5JRR8|Q96E13	Nonsense_Mutation	SNP	43	0	0	55	20.29	14	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.Q254*	ENST00000335972.6	37	c.760	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.677928	0.96764	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000442035;ENST00000335972	.	.	.	4.74	4.74	0.60224	.	0.061537	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-19.7391	12.1745	0.54178	0.0:0.8304:0.1696:0.0	.	.	.	.	X	254;254;268;254	.	ENSP00000338413:Q254X	Q	+	1	0	UBA1	46945902	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.847000	0.55895	2.339000	0.79563	0.509000	0.49947	CAG	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.537	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	protein_coding	OTTHUMT00000056389.1	C	NM_003334	-		47060958	1	no_errors	ENST00000335972	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	47060958	C	T	47060958	4	4	161	1	0	0	0	0	0	1	0	0	16834	479	17	2	786	2	UBA1	23	47060958	Nonsense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	28400780	47060958	108209602	65	11541											
WNK3	65267	genome.wustl.edu	37	chrX	54264792	54264792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctggaaccgaccccgctGaaatgatccactcatcgctt	7	15	1	2			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chrX:54264792G>T	ENST00000375159.2	-	18	3996	c.3997C>A	c.(3997-3999)Cag>Aag	p.Q1333K	WNK3_ENST00000354646.2_Missense_Mutation_p.Q1333K|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1286K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1333					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						CGACCCCGCTGAAATGATCCA	0.443																																																	0								ENSG00000196632						104	89	95					X																	54264792		2203	4300	6503	WNK3	SO:0001583	missense	0			-	HGNC	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.3997C>A	X.37:g.54264792G>T	ENSP00000364301:p.Gln1333Lys	Somatic	0	60	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	91	13.33	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	38	0	0	64	15.79	12	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q1333K	ENST00000375159.2	37	c.3997	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	5.519	0.280619	0.10458	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70164	-0.45;-0.46;-0.46	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000056	T	0.46600	0.1401	N	0.19112	0.55	0.26287	N	0.978182	B;B	0.29136	0.234;0.057	B;B	0.30782	0.12;0.027	T	0.34950	-0.9808	10	0.02654	T	1	-6.2791	11.6912	0.51516	0.0:0.0:0.8229:0.1771	.	1286;1333	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1286;1333;1333	ENSP00000364312:Q1286K;ENSP00000346667:Q1333K;ENSP00000364301:Q1333K	ENSP00000346667:Q1333K	Q	-	1	0	WNK3	54281517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.358000	0.52284	2.144000	0.66660	0.600000	0.82982	CAG	-	NULL		0.443	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	G	NM_020922	-		54264792	-1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54264792	G	T	54264792	3	4	161	1	0	0	0	0	1	0	0	0	17386	1299	45	3	1429	3	WNK3	23	54264792	Missense_Mutation	SNP	G	TCGA-IS-A3KA-01A-11D-A21Q-09	7203834	54264792	101005768	66	11542											
APEX2	27301	genome.wustl.edu	37	chrX	55033727	55033727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacccctctgtgggggccaCagggagccatgtgtgatgcg	15	12	1	1			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chrX:55033727C>A	ENST00000374987.3	+	6	1482	c.1416C>A	c.(1414-1416)caC>caA	p.H472Q	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	472					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GTGGGGGCCACAGGGAGCCAT	0.612								Other BER factors																																									0								ENSG00000169188						29	24	26					X																	55033727		2203	4298	6501	APEX2	SO:0001583	missense	0			-	HGNC	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1416C>A	X.37:g.55033727C>A	ENSP00000364126:p.His472Gln	Somatic	0	37	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	114	17.39	Q9Y5X7	Missense_Mutation	SNP	22	0	0	71	8.86	7	pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1	p.H472Q	ENST00000374987.3	37	c.1416	CCDS14365.1	X	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350825	0.61183	.	.	ENSG00000169188	ENST00000374987	T	0.26223	1.75	4.87	1.9	0.25705	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	H	0.95645	3.7	0.52501	D	0.99995	D	0.71674	0.998	D	0.77004	0.989	T	0.59043	-0.7528	10	0.87932	D	0	-25.6851	7.7494	0.28888	0.0:0.4789:0.0:0.5211	.	472	Q9UBZ4	APEX2_HUMAN	Q	472	ENSP00000364126:H472Q	ENSP00000364126:H472Q	H	+	3	2	APEX2	55050452	0.816000	0.29132	0.435000	0.26784	0.963000	0.63663	0.467000	0.22035	0.113000	0.18004	0.513000	0.50165	CAC	-	pfam_Znf_GRF		0.612	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX2	protein_coding	OTTHUMT00000056845.1	C		-		55033727	1	no_errors	ENST00000374987	ensembl	human	known	74_37	missense	SNP	0.973	A	A	55033727	C	A	55033727	3	1	161	1	0	0	0	0	1	0	0	0	770	477	17	3	1438	3	APEX2	23	55033727	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	768935	55033727	100236833	67	11543											
LONRF3	79836	genome.wustl.edu	37	chrX	118124513	118124513	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catctgaccttgaatgcgctCtatgtatgaggtacgtcctg	10	10	2	3			TCGA-IS-A3KA-01A-11D-A21Q-09	TCGA-IS-A3KA-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8f0becd-fda8-41f4-a424-e082f9eae22c	5f7a0fb0-9477-462c-959e-7fc6f0125fec	g.chrX:118124513C>G	ENST00000371628.3	+	5	1436	c.1405C>G	c.(1405-1407)Cta>Gta	p.L469V	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.L428V|LONRF3_ENST00000422289.2_Missense_Mutation_p.L213V	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	469							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGAATGCGCTCTATGTATGAG	0.468																																																	0								ENSG00000175556						308	193	232					X																	118124513		2203	4300	6503	LONRF3	SO:0001583	missense	0			-	HGNC	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1405C>G	X.37:g.118124513C>G	ENSP00000360690:p.Leu469Val	Somatic	0	26	0		0.525653367533411				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	37	0	0	9	64.00	16	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L469V	ENST00000371628.3	37	c.1405	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.474049|1.474049	0.26423|0.26423	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43|.	5.3|5.3	3.53|3.53	0.40419|0.40419	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.27384|0.27384	0.0672|0.0672	N|N	0.03281|0.03281	-0.365|-0.365	0.80722|0.80722	D|D	1|1	P;P;D|.	0.64830|.	0.529;0.84;0.994|.	P;P;P|.	0.59012|.	0.521;0.767;0.85|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.34782|.	T|.	0.22|.	-14.6539|-14.6539	8.0982|8.0982	0.30842|0.30842	0.0:0.7594:0.1542:0.0864|0.0:0.7594:0.1542:0.0864	.|.	213;428;469|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	V|C	428;428;469;213|234	ENSP00000360691:L428V;ENSP00000307732:L428V;ENSP00000360690:L469V;ENSP00000408894:L213V|.	ENSP00000307732:L428V|.	L|S	+|+	1|2	2|0	LONRF3|LONRF3	118008541|118008541	0.938000|0.938000	0.31826|0.31826	0.024000|0.024000	0.17045|0.17045	0.162000|0.162000	0.22319|0.22319	1.477000|1.477000	0.35431|0.35431	0.548000|0.548000	0.28955|0.28955	0.600000|0.600000	0.82982|0.82982	CTA|TCT	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.468	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	protein_coding	OTTHUMT00000355124.2	C	NM_024778	-		118124513	1	no_errors	ENST00000371628	ensembl	human	known	74_37	missense	SNP	0.215	G	G	118124513	C	G	118124513	3	3	161	1	0	0	0	0	1	0	0	0	8898	912	32	4	1423	4	LONRF3	23	118124513	Missense_Mutation	SNP	C	TCGA-IS-A3KA-01A-11D-A21Q-09	63090786	118124513	37146047	68	11544											
TCEB3	6924	genome.wustl.edu	37	chr1	24078180	24078181	+	Frame_Shift_Ins	INS	-	-	G													gacctgttgcccaaggtaaaINSagagaagggttctaacaacc							TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:24078180_24078181insG	ENST00000418390.2	+	4	1434_1435	c.1163_1164insG	c.(1162-1167)aaagagfs	p.E389fs	TCEB3_ENST00000609199.1_Frame_Shift_Ins_p.E363fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	389					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCAAGGTAAAAGAGAAGGGTT	0.455											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000011007																																			TCEB3	SO:0001589	frameshift_variant	0				HGNC	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	Exception_encountered	1.37:g.24078180_24078181insG	ENSP00000395574:p.Glu389fs	Somatic	0	19	0	768	0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73	B2R7Q8|Q8IXH1	Frame_Shift_Ins	INS	34	0	0	9	66.67	18	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.E389fs	ENST00000418390.2	37	c.1163_1164	CCDS239.2	1																																																																																			-	NULL		0.455	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	protein_coding	OTTHUMT00000008230.2	-	NM_003198			24078181	1	no_errors	ENST00000418390	ensembl	human	known	74_37	frame_shift_ins	INS	0.995:0.995	G	G	24078181	-	G	24078180	7	5	162	1	0	1	1	0	0	0	0	0	15688	14	1	0	1177	0	TCEB3	1	24078180	Frame_Shift_Ins	INS	-	TCGA-IW-A3M4-01A-11D-A21Q-09		24078180	225172441	1	11545											
C1orf210	149466	genome.wustl.edu	37	chr1	43748618	43748618	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccggtagctggcatgGtatcggcggcagaggtggca	19	9	0	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:43748618G>T	ENST00000523677.1	-	3	413	c.180C>A	c.(178-180)taC>taA	p.Y60*	C1orf210_ENST00000423420.1_Nonsense_Mutation_p.Y60*	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	60						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTGGCATGGTATCGGCGGC	0.612																																																	0								ENSG00000253313						57	55	55					1																	43748618		2203	4300	6503	C1orf210	SO:0001587	stop_gained	0			-	HGNC	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.180C>A	1.37:g.43748618G>T	ENSP00000430918:p.Tyr60*	Somatic	0	27	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DPX2	Nonsense_Mutation	SNP	26	0	0	26	0.00	0	NULL	p.Y60*	ENST00000523677.1	37	c.180	CCDS481.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.410925	0.96072	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	.	.	.	5.57	4.66	0.58398	.	0.405804	0.25607	N	0.029516	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6727	0.62436	0.0748:0.0:0.9252:0.0	.	.	.	.	X	60	.	ENSP00000429399:Y60X	Y	-	3	2	C1orf210	43521205	1.000000	0.71417	0.719000	0.30619	0.962000	0.63368	3.233000	0.51311	1.364000	0.46038	0.561000	0.74099	TAC	-	NULL		0.612	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf210	protein_coding	OTTHUMT00000019035.2	G	NM_182517	-		43748618	-1	no_errors	ENST00000423420	ensembl	human	known	74_37	nonsense	SNP	0.990	T	T	43748618	G	T	43748618	4	4	162	1	0	0	0	0	0	1	0	0	2031	1256	44	3	165	3	C1orf210	1	43748618	Nonsense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	19670438	43748618	205502003	2	11546											
MAGI3	260425	genome.wustl.edu	37	chr1	114128104	114128104	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgataatgagtttgatgcaGaatctcaaagaaaacgaacg	9	5	1	5			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:114128104G>T	ENST00000307546.9	+	4	724	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	MAGI3_ENST00000369617.4_Nonsense_Mutation_p.E217*|MAGI3_ENST00000369615.1_Nonsense_Mutation_p.E217*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.E217*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	217	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)		GTTTGATGCAGAATCTCAAAG	0.438																																																	0								ENSG00000081026						83	81	82					1																	114128104		2203	4300	6503	MAGI3	SO:0001587	stop_gained	0			-	HGNC	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.649G>T	1.37:g.114128104G>T	ENSP00000304604:p.Glu217*	Somatic	0	27	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	37	0	0	28	0.00	0	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.E217*	ENST00000307546.9	37	c.649	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.730973	0.98459	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.77	5.77	0.91146	.	0.046055	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.4423	20.3559	0.98840	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000304604:E217X	E	+	1	0	MAGI3	113929627	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	GAA	-	smart_GK/Ca_channel_bsu		0.438	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	protein_coding	OTTHUMT00000032429.1	G	NM_152900	-		114128104	1	no_errors	ENST00000369611	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	114128104	G	T	114128104	4	4	162	1	0	0	0	0	0	1	0	0	9194	943	33	3	663	3	MAGI3	1	114128104	Nonsense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	70379486	114128104	135122517	3	11547											
HSD3B2	3284	genome.wustl.edu	37	chr1	119965104	119965104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attatcaaatagtgtgttcaCcttctcttacaagaaggctc	6	9	3	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:119965104C>A	ENST00000543831.1	+	4	1229	c.980C>A	c.(979-981)aCc>aAc	p.T327N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.T327N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	327					androgen biosynthetic process (GO:0006702)|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 (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	AGTGTGTTCACCTTCTCTTAC	0.507																																																	0								ENSG00000203859						92	88	90					1																	119965104		2203	4300	6503	HSD3B2	SO:0001583	missense	0			-	HGNC	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.980C>A	1.37:g.119965104C>A	ENSP00000445122:p.Thr327Asn	Somatic	0	62	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	40	0	0	23	0.00	0	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.T327N	ENST00000543831.1	37	c.980	CCDS902.1	1	.	.	.	.	.	.	.	.	.	.	-	13.20	2.166067	0.38217	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	T;T	0.70986	-0.53;-0.53	4.1	4.1	0.47936	.	0.095176	0.64402	D	0.000001	D	0.84383	0.5460	M	0.92555	3.32	0.39985	D	0.974978	D	0.71674	0.998	D	0.68353	0.957	D	0.88946	0.3383	9	.	.	.	-0.2107	15.3496	0.74373	0.0:1.0:0.0:0.0	.	327	P26439	3BHS2_HUMAN	N	327	ENSP00000445122:T327N;ENSP00000358424:T327N	.	T	+	2	0	HSD3B2	119766627	0.967000	0.33354	0.802000	0.32245	0.310000	0.27922	1.275000	0.33144	1.869000	0.54173	0.298000	0.19748	ACC	-	NULL		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	protein_coding	OTTHUMT00000034994.1	C	NM_000198	-		119965104	1	no_errors	ENST00000369416	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119965104	C	A	119965104	3	1	162	1	0	0	0	0	1	0	0	0	7393	507	18	3	990	3	HSD3B2	1	119965104	Missense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09	5837000	119965104	129285517	4	11548											
LYST	1130	genome.wustl.edu	37	chr1	235950617	235950617	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaggaaaatattctcctgtGattcaacctgtgctagtaaa	9	7	2	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:235950617G>T	ENST00000389794.3	-	14	4919	c.4745C>A	c.(4744-4746)tCa>tAa	p.S1582*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.S1582*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1582					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTCTCCTGTGATTCAACCTG	0.398																																																	0								ENSG00000143669						195	191	193					1																	235950617		2203	4300	6503	LYST	SO:0001587	stop_gained	0			-	HGNC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4745C>A	1.37:g.235950617G>T	ENSP00000374444:p.Ser1582*	Somatic	1	100	0.99		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	46	45.24	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	32	0	0	29	54.69	35	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1582*	ENST00000389794.3	37	c.4745	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.455685	0.99669	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.86	5.86	0.93980	.	0.166095	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	.	.	.	X	1582	.	ENSP00000374443:S1582X	S	-	2	0	LYST	234017240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.209000	0.95087	2.774000	0.95407	0.585000	0.79938	TCA	-	superfamily_ARM-type_fold		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	G		-		235950617	-1	no_errors	ENST00000389793	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	235950617	G	T	235950617	4	4	162	1	0	0	0	0	0	1	0	0	9130	1294	45	3	6820	3	LYST	1	235950617	Nonsense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	115985513	235950617	13300004	5	11549											
CAD	790	genome.wustl.edu	37	chr2	27447303	27447303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaaaggttctgatcctggGctcagggggcctctccattg	13	11	3	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:27447303G>T	ENST00000403525.1	+	9	1343	c.1199G>T	c.(1198-1200)gGc>gTc	p.G400V	CAD_ENST00000264705.4_Missense_Mutation_p.G400V			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)					CTGATCCTGGGCTCAGGGGGC	0.607																																																	0								ENSG00000084774						67	71	70					2																	27447303		2203	4300	6503	CAD	SO:0001583	missense	0			-	HGNC	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.1199G>T	2.37:g.27447303G>T	ENSP00000384510:p.Gly400Val	Somatic	0	35	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	24	0	0	30	0.00	0	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.G400V	ENST00000403525.1	37	c.1199		2	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984591	0.53934	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99503	-6.03;-6.03	5.35	4.47	0.54385	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.99887	4.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96633	0.9468	10	0.87932	D	0	-5.3325	12.7305	0.57195	0.0806:0.0:0.9194:0.0	.	400;400	F8VPD4;P27708	.;PYR1_HUMAN	V	400	ENSP00000264705:G400V;ENSP00000384510:G400V	ENSP00000264705:G400V	G	+	2	0	CAD	27300807	1.000000	0.71417	0.983000	0.44433	0.032000	0.12392	9.331000	0.96430	1.258000	0.44101	0.491000	0.48974	GGC	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu		0.607	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	G		-		27447303	1	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27447303	G	T	27447303	3	4	162	1	0	0	0	0	1	0	0	0	2567	1203	42	3	1233	3	CAD	2	27447303	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		27447303	215752070	6	11550											
CEBPZ	10153	genome.wustl.edu	37	chr2	37438145	37438145	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaatgtattttcttaccttGaaatgagccagcaaagtcaa	6	7	2	2			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:37438145G>T	ENST00000234170.5	-	13	3026	c.2881C>A	c.(2881-2883)Caa>Aaa	p.Q961K	RP11-423P10.2_ENST00000606229.1_RNA|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	961					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTACCTTGAAATGAGCCA	0.318																																																	0								ENSG00000115816						83	80	81					2																	37438145		2203	4299	6502	CEBPZ	SO:0001583	missense	0			-	HGNC	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2881C>A	2.37:g.37438145G>T	ENSP00000234170:p.Gln961Lys	Somatic	0	50	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q8NE75	Missense_Mutation	SNP	20	0	0	27	0.00	0	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q961K	ENST00000234170.5	37	c.2881	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.835029	0.32421	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.13196	2.61	5.08	4.18	0.49190	.	0.669254	0.15467	N	0.260822	T	0.15565	0.0375	L	0.51422	1.61	0.24817	N	0.992606	B	0.10296	0.003	B	0.06405	0.002	T	0.13176	-1.0519	10	0.87932	D	0	.	12.5136	0.56019	0.0:0.3472:0.6527:0.0	.	961	Q03701	CEBPZ_HUMAN	K	961	ENSP00000234170:Q961K	ENSP00000234170:Q961K	Q	-	1	0	CEBPZ	37291649	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.937000	0.28951	1.203000	0.43233	0.655000	0.94253	CAA	-	NULL		0.318	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	protein_coding	OTTHUMT00000218569.2	G	NM_005760	-		37438145	-1	no_errors	ENST00000234170	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37438145	G	T	37438145	3	4	162	1	0	0	0	0	1	0	0	0	3206	1299	45	3	299	3	CEBPZ	2	37438145	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	9990842	37438145	205761228	7	11551											
FBXO48	554251	genome.wustl.edu	37	chr2	68691360	68691360	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttatctttccagttctgctTctagaatttccccccatgta	4	13	3	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:68691360T>A	ENST00000377957.3	-	4	856	c.449A>T	c.(448-450)gAa>gTa	p.E150V		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	150										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CAGTTCTGCTTCTAGAATTTC	0.373																																																	0								ENSG00000204923						221	217	218					2																	68691360		2203	4300	6503	FBXO48	SO:0001583	missense	0			-	HGNC	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"F-boxes /  "other""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.449A>T	2.37:g.68691360T>A	ENSP00000367193:p.Glu150Val	Somatic	0	85	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	80	8.05		Missense_Mutation	SNP	21	0	0	60	7.69	5	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.E150V	ENST00000377957.3	37	c.449	CCDS33213.1	2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165479	0.78339	.	.	ENSG00000204923	ENST00000377957	T	0.45276	0.9	5.67	4.47	0.54385	.	0.353602	0.29948	N	0.010783	T	0.39655	0.1086	L	0.53249	1.67	0.35104	D	0.765548	P	0.46277	0.875	B	0.41440	0.357	T	0.59736	-0.7398	10	0.87932	D	0	-6.5412	11.7287	0.51724	0.0:0.0:0.1466:0.8534	.	150	Q5FWF7	FBX48_HUMAN	V	150	ENSP00000367193:E150V	ENSP00000367193:E150V	E	-	2	0	FBXO48	68544864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.742000	0.62103	2.164000	0.68074	0.533000	0.62120	GAA	-	NULL		0.373	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO48	protein_coding	OTTHUMT00000326900.2	T	NM_001024680	-		68691360	-1	no_errors	ENST00000377957	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68691360	T	A	68691360	3	1	162	1	0	0	0	0	1	0	0	0	5759	1783	62	5	22	5	FBXO48	2	68691360	Missense_Mutation	SNP	T	TCGA-IW-A3M4-01A-11D-A21Q-09	31253215	68691360	174508013	8	11552											
ZNF514	84874	genome.wustl.edu	37	chr2	95815475	95815475	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcttttctccagtatgagttCtttgatgtttaataagggat	9	5	2	2			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:95815475C>G	ENST00000295208.2	-	5	1217	c.755G>C	c.(754-756)aGa>aCa	p.R252T	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.R252T	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	252					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.R252I(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AGTATGAGTTCTTTGATGTTT	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000144026						107	114	112					2																	95815475		2203	4300	6503	ZNF514	SO:0001583	missense	0			-	HGNC	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"Zinc fingers, C2H2-type", "-"	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.755G>C	2.37:g.95815475C>G	ENSP00000295208:p.Arg252Thr	Somatic	0	85	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	52	52.73	Q5JPJ3	Missense_Mutation	SNP	29	0	0	32	40.00	22	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R252T	ENST00000295208.2	37	c.755	CCDS2011.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.20|19.20	3.782437|3.782437	0.70222|0.70222	.|.	.|.	ENSG00000144026|ENSG00000144026	ENST00000542127|ENST00000295208;ENST00000411425	.|T;T	.|0.02421	.|4.3;4.3	3.18|3.18	3.18|3.18	0.36537|0.36537	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.12817	.|0.0311	M|M	0.73319|0.73319	2.225|2.225	0.30823|0.30823	N|N	0.737572|0.737572	.|D;P	.|0.76494	.|0.999;0.543	.|D;B	.|0.72625	.|0.978;0.243	.|T	.|0.00749	.|-1.1582	.|9	.|0.72032	.|D	.|0.01	.|.	12.6059|12.6059	0.56523|0.56523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252;71	.|Q96K75;Q658L7	.|ZN514_HUMAN;.	.|T	-1|252	.|ENSP00000295208:R252T;ENSP00000405509:R252T	.|ENSP00000295208:R252T	.|R	-|-	.|2	.|0	ZNF514|ZNF514	95179202|95179202	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.782000|0.782000	0.26788|0.26788	2.065000|2.065000	0.61736|0.61736	0.655000|0.655000	0.94253|0.94253	.|AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	protein_coding	OTTHUMT00000252769.1	C	NM_032788	-		95815475	-1	no_errors	ENST00000295208	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95815475	C	G	95815475	3	3	162	1	0	0	0	0	1	0	0	0	17966	913	32	4	451	4	ZNF514	2	95815475	Missense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09	27124115	95815475	147383898	9	11553											
CLDND1	56650	genome.wustl.edu	37	chr3	98235566	98235566	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggtgtgagcagcccagatGaagagagcagaagccatgaa	14	7	0	6			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr3:98235566G>T	ENST00000503004.1	-	5	1578	c.699C>A	c.(697-699)ttC>ttA	p.F233L	CLDND1_ENST00000510545.1_Missense_Mutation_p.F233L|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.F256L|CLDND1_ENST00000513287.1_Missense_Mutation_p.F233L|CLDND1_ENST00000341181.6_Missense_Mutation_p.F233L|CLDND1_ENST00000511081.1_Missense_Mutation_p.F138L|CLDND1_ENST00000394181.2_Missense_Mutation_p.F233L|CLDND1_ENST00000394185.2_Missense_Mutation_p.F233L|CLDND1_ENST00000394180.2_Missense_Mutation_p.F233L|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000508503.1_5'Flank			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	233						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CAGCCCAGATGAAGAGAGCAG	0.468																																																	0								ENSG00000080822						128	105	112					3																	98235566		2203	4300	6503	CLDND1	SO:0001583	missense	0			-	HGNC	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.699C>A	3.37:g.98235566G>T	ENSP00000421226:p.Phe233Leu	Somatic	0	46	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	28	0	0	57	0.00	0	pfam_PMP22/EMP/MP20/Claudin	p.F256L	ENST00000503004.1	37	c.768	CCDS2930.1	3	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446265	0.63178	.	.	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-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	6.03	4.25	0.50352	.	0.207171	0.51477	D	0.000096	T	0.46756	0.1409	L	0.42581	1.335	0.44985	D	0.998006	B;B;B	0.31256	0.316;0.051;0.097	B;B;B	0.32022	0.139;0.032;0.085	T	0.32719	-0.9896	10	0.05833	T	0.94	-17.1594	8.2108	0.31481	0.2391:0.0:0.7609:0.0	.	233;138;233	D6RCR8;F2Z2D9;Q9NY35	.;.;CLDN1_HUMAN	L	233;256;233;233;233;233;233;138;233;211;233;233;118;233	ENSP00000340247:F233L;ENSP00000388457:F256L;ENSP00000377734:F233L;ENSP00000421226:F233L;ENSP00000377739:F233L;ENSP00000377735:F233L;ENSP00000423590:F233L;ENSP00000424669:F138L;ENSP00000426869:F233L;ENSP00000423732:F211L;ENSP00000425539:F233L;ENSP00000420913:F233L;ENSP00000427119:F118L;ENSP00000421413:F233L	ENSP00000340247:F233L	F	-	3	2	CLDND1	99718256	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.981000	0.49329	0.892000	0.36259	0.655000	0.94253	TTC	-	NULL		0.468	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND1	protein_coding	OTTHUMT00000359071.1	G	NM_019895	-		98235566	-1	no_errors	ENST00000437922	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98235566	G	T	98235566	3	4	162	1	0	0	0	0	1	0	0	0	3495	1281	45	3	66	3	CLDND1	3	98235566	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		98235566	99786864	10	11554											
USP13	8975	genome.wustl.edu	37	chr3	179499580	179499580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacatccacaatgagtggtCattacatttgccatatcaaa	6	9	2	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr3:179499580C>T	ENST00000263966.3	+	20	2938	c.2467C>T	c.(2467-2469)Cat>Tat	p.H823Y	USP13_ENST00000496897.1_Missense_Mutation_p.H758Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	823	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATGAGTGGTCATTACATTTG	0.393																																																	0								ENSG00000058056						151	134	140					3																	179499580		2203	4300	6503	USP13	SO:0001583	missense	0			-	HGNC	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2467C>T	3.37:g.179499580C>T	ENSP00000263966:p.His823Tyr	Somatic	0	61	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	43	37.68	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	46	0	0	40	43.66	31	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.H823Y	ENST00000263966.3	37	c.2467	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588677	0.86851	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	D;D	0.91577	-2.87;-2.87	4.92	4.92	0.64577	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98290	1.0513	10	0.87932	D	0	-16.9424	18.135	0.89616	0.0:1.0:0.0:0.0	.	823	Q92995	UBP13_HUMAN	Y	823;758	ENSP00000263966:H823Y;ENSP00000417146:H758Y	ENSP00000263966:H823Y	H	+	1	0	USP13	180982274	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.431000	0.80335	2.273000	0.75805	0.561000	0.74099	CAT	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67		0.393	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	protein_coding	OTTHUMT00000349617.1	C		-		179499580	1	no_errors	ENST00000263966	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179499580	C	T	179499580	3	4	162	1	0	0	0	0	1	0	0	0	17051	826	29	2	2545	2	USP13	3	179499580	Missense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09	81264014	179499580	18522850	11	11555											
DRD5	1816	genome.wustl.edu	37	chr4	9783905	9783905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatcgtgtctctggcCgtgtcagaccttttcgtggc	11	12	4	1	rs2227848	byFrequency	TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr4:9783905C>T	ENST00000304374.2	+	1	648	c.252C>T	c.(250-252)gcC>gcT	p.A84A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	84					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTCTCTGGCCGTGTCAGACC	0.642																																																	0								ENSG00000169676						54	47	49					4																	9783905		2203	4300	6503	DRD5	SO:0001819	synonymous_variant	0			-	HGNC	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.252C>T	4.37:g.9783905C>T		Somatic	0	70	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	76	13.64	B2R9S3|Q8NEQ8	Silent	SNP	28	0	0	58	6.45	4	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt	p.A84	ENST00000304374.2	37	c.252	CCDS3405.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	protein_coding	OTTHUMT00000250293.1	C		rs2227848		9783905	1	no_errors	ENST00000304374	ensembl	human	known	74_37	silent	SNP	0.588	T	T	9783905	C	T	9783905	2	4	162	1	0	0	0	0	0	0	0	1	4762	639	23	1		1	DRD5	4	9783905	Silent	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09		9783905	181370371	12	11556											
ANKRD17	26057	genome.wustl.edu	37	chr4	74012985	74012985	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taataagtatttaactaactCcaaatgaccctcttgagcag	5	9	1	2			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr4:74012985C>A	ENST00000358602.4	-	9	1848	c.1732G>T	c.(1732-1734)Gag>Tag	p.E578*	ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E578*|ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E465*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	578					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAACTAACTCCAAATGACCC	0.368																																																	0								ENSG00000132466						84	88	87					4																	74012985		2203	4300	6503	ANKRD17	SO:0001587	stop_gained	0			-	HGNC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1732G>T	4.37:g.74012985C>A	ENSP00000351416:p.Glu578*	Somatic	0	48	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	41	0	0	78	3.66	3	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E578*	ENST00000358602.4	37	c.1732	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.510292	0.98843	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	.	.	.	X	578;578;578;465;578	.	ENSP00000332265:E578X	E	-	1	0	ANKRD17	74231849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.756000	0.94617	0.655000	0.94253	GAG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	C	NM_032217	-		74012985	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	74012985	C	A	74012985	4	1	162	1	0	0	0	0	0	1	0	0	646	864	30	3	6183	3	ANKRD17	4	74012985	Nonsense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09	64229080	74012985	117141291	13	11557											
SPINK13	153218	genome.wustl.edu	37	chr5	147653942	147653942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgacttcactaggtggCctaaggtaaatttaaatttc	8	7	1	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr5:147653942C>T	ENST00000512953.1	+	4	634	c.103C>T	c.(103-105)Cct>Tct	p.P35S	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_5'UTR|SPINK13_ENST00000398450.4_Missense_Mutation_p.P35S			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	35	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						CACTAGGTGGCCTAAGGTAAA	0.353																																																	0								ENSG00000214510						150	155	153					5																	147653942		1832	4080	5912	SPINK13	SO:0001583	missense	0			-	HGNC		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"Serine peptidase inhibitors, Kazal type"	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.103C>T	5.37:g.147653942C>T	ENSP00000421048:p.Pro35Ser	Somatic	0	47	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	21	47.50	A1A4Y2	Missense_Mutation	SNP	34	0	0	26	45.83	22	pfam_Kazal_dom,smart_Kazal_dom	p.P35S	ENST00000512953.1	37	c.103	CCDS43383.1	5	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790217	0.31685	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	T;T	0.74315	-0.83;-0.83	3.56	1.71	0.24356	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.09310	N	0.999992	P	0.43857	0.819	B	0.35114	0.196	T	0.53753	-0.8394	8	0.87932	D	0	-17.9037	4.2877	0.10863	0.2242:0.6564:0.0:0.1194	.	35	Q1W4C9	ISK13_HUMAN	S	35	ENSP00000421048:P35S;ENSP00000381468:P35S	ENSP00000381468:P35S	P	+	1	0	SPINK13	147634135	0.999000	0.42202	0.315000	0.25238	0.062000	0.15995	1.425000	0.34859	0.475000	0.27415	0.597000	0.82753	CCT	-	NULL		0.353	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK13	protein_coding	OTTHUMT00000373337.1	C	NM_001040129.2	-		147653942	1	no_errors	ENST00000398450	ensembl	human	known	74_37	missense	SNP	0.376	T	T	147653942	C	T	147653942	3	4	162	1	0	0	0	0	1	0	0	0	15065	739	26	2	109	2	SPINK13	5	147653942	Missense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09		147653942	33261318	14	11558											
LCP2	3937	genome.wustl.edu	37	chr5	169685121	169685121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatcttgaagggaaagtGttggagctcataggaagtag	15	3	2	2	rs373164419		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr5:169685121G>A	ENST00000046794.5	-	16	1635	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	LCP2_ENST00000521416.1_Silent_p.N135N	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	340					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AAGGGAAAGTGTTGGAGCTCA	0.493																																																	0								ENSG00000043462	G		0,3882		0,0,1941	235	233	234		1020	1.5	1	5		234	1,8277		0,1,4138	no	coding-synonymous	LCP2	NM_005565.3		0,1,6079	AA,AG,GG		0.0121,0.0,0.0082		340/534	169685121	1,12159	1941	4139	6080	LCP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1020C>T	5.37:g.169685121G>A		Somatic	0	30	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	A8KA25|Q53XV4	Silent	SNP	26	0	0	31	50.00	31	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.N340	ENST00000046794.5	37	c.1020	CCDS47339.1	5																																																																																			-	NULL		0.493	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	protein_coding	OTTHUMT00000371727.1	G	NM_005565	-		169685121	-1	no_errors	ENST00000046794	ensembl	human	known	74_37	silent	SNP	1.000	A	A	169685121	G	A	169685121	2	1	162	1	0	0	0	0	0	0	0	1	8694	1368	48	2		2	LCP2	5	169685121	Silent	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	22031179	169685121	11230139	15	11559											
TFAP2B	7021	genome.wustl.edu	37	chr6	50805765	50805765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttacccgcgggcaggcGcaaagcagcaaatgtcacgt	12	11	1	0			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr6:50805765G>A	ENST00000393655.3	+	5	1068	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R309H	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	300			R -> C (in CHAR). {ECO:0000269|PubMed:10802654}.		aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R300H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCGGGCAGGCGCAAAGCAGCA	0.483																																					Pancreas(116;1373 2332 5475 10752)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000008196						99	98	99					6																	50805765		2203	4300	6503	TFAP2B	SO:0001583	missense	0			-	HGNC	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.899G>A	6.37:g.50805765G>A	ENSP00000377265:p.Arg300His	Somatic	0	53	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	35	0	0	60	0.00	0	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.R309H	ENST00000393655.3	37	c.926	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	33	5.250773	0.95305	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98060	-4.69;-4.69	5.63	5.63	0.86233	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99414	1.0931	10	0.87932	D	0	-25.9059	20.0471	0.97613	0.0:0.0:1.0:0.0	.	300	Q92481	AP2B_HUMAN	H	300;309	ENSP00000377265:R300H;ENSP00000263046:R309H	ENSP00000263046:R309H	R	+	2	0	TFAP2B	50913724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.815000	0.96918	0.561000	0.74099	CGC	-	pfam_TF_AP2_C,prints_TF_AP2_C		0.483	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	protein_coding	OTTHUMT00000040886.3	G	NM_003221	-		50805765	1	no_errors	ENST00000263046	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50805765	G	A	50805765	3	1	162	1	0	0	0	0	1	0	0	0	15795	1087	38	1	917	1	TFAP2B	6	50805765	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		50805765	120309302	16	11560											
MUC17	140453	genome.wustl.edu	37	chr7	100687050	100687050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtccccacgaatactaCaattaagagcaaccccacct	5	16	0	1	rs200507888		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr7:100687050C>A	ENST00000306151.4	+	3	12417	c.12353C>A	c.(12352-12354)aCa>aAa	p.T4118K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4118					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)					ACGAATACTACAATTAAGAGC	0.468																																																	0								ENSG00000169876						128	135	132					7																	100687050		2203	4300	6503	MUC17	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.12353C>A	7.37:g.100687050C>A	ENSP00000302716:p.Thr4118Lys	Somatic	0	35	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	35	0	0	25	52.83	28	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T4118K	ENST00000306151.4	37	c.12353	CCDS34711.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.226	-0.625529	0.03610	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	1.08	1.08	0.20341	.	.	.	.	.	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	1	B	0.19200	0.034	B	0.12837	0.008	T	0.49643	-0.8918	9	0.17832	T	0.49	.	5.5507	0.17089	0.0:1.0:0.0:0.0	.	4118	Q685J3	MUC17_HUMAN	K	4118	ENSP00000302716:T4118K	ENSP00000302716:T4118K	T	+	2	0	MUC17	100473770	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.542000	0.23222	0.544000	0.28883	0.549000	0.68633	ACA	-	NULL		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	rs200507888		100687050	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.001	A	A	100687050	C	A	100687050	3	1	162	1	0	0	0	0	1	0	0	0	9976	478	17	3	12363	3	MUC17	7	100687050	Missense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09		100687050	58451613	17	11561											
OPLAH	26873	genome.wustl.edu	37	chr8	145111873	145111873	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggaagccctgggcctgcaGagcatccacacactgctcct	12	15	0	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr8:145111873G>A	ENST00000426825.1	-	12	1765	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	562					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGCCTGCAGAGCATCCACA	0.647																																																	0								ENSG00000178814						18	24	22					8																	145111873		2085	4223	6308	OPLAH	SO:0001819	synonymous_variant	0			-	HGNC	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1684C>T	8.37:g.145111873G>A		Somatic	0	11	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	26	0	0	20	51.22	21	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.L562	ENST00000426825.1	37	c.1684		8																																																																																			-	NULL		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	protein_coding		G	NM_017570	-		145111873	-1	no_errors	ENST00000426825	ensembl	human	known	74_37	silent	SNP	0.975	A	A	145111873	G	A	145111873	2	1	162	1	0	0	0	0	0	0	0	1	10878	933	33	2		2	OPLAH	8	145111873	Silent	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		145111873	1252149	18	11562											
VPS13A	23230	genome.wustl.edu	37	chr9	79824413	79824413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataaaaaatcttcaggtgAaaatttccagtatccatatt	4	7	3	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr9:79824413A>G	ENST00000360280.3	+	6	720	c.460A>G	c.(460-462)Aaa>Gaa	p.K154E	VPS13A_ENST00000376636.3_Missense_Mutation_p.K154E|VPS13A_ENST00000376634.4_Missense_Mutation_p.K154E|VPS13A_ENST00000357409.5_Missense_Mutation_p.K154E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	154					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTTCAGGTGAAAATTTCCAG	0.254																																																	0								ENSG00000197969						35	36	36					9																	79824413		2203	4290	6493	VPS13A	SO:0001583	missense	0			-	HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.460A>G	9.37:g.79824413A>G	ENSP00000353422:p.Lys154Glu	Somatic	0	86	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	59	13.24	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	34	0	0	63	13.70	10	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K154E	ENST00000360280.3	37	c.460	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652532	0.47362	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47177	1.02;0.85;0.93;1.01	5.71	4.56	0.56223	.	0.114168	0.64402	D	0.000020	T	0.52821	0.1758	M	0.68728	2.09	0.80722	D	1	B;P;P;P	0.50369	0.112;0.749;0.934;0.934	B;B;P;P	0.51170	0.093;0.257;0.661;0.661	T	0.50268	-0.8848	10	0.13108	T	0.6	.	12.4256	0.55544	0.8545:0.1455:0.0:0.0	.	154;154;154;154	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	E	154	ENSP00000365821:K154E;ENSP00000365823:K154E;ENSP00000353422:K154E;ENSP00000349985:K154E	ENSP00000349985:K154E	K	+	1	0	VPS13A	79014233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	0.977000	0.38444	0.533000	0.62120	AAA	-	NULL		0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	A	NM_015186	-		79824413	1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	SNP	1.000	G	G	79824413	A	G	79824413	3	3	162	1	0	0	0	0	1	0	0	0	17196	247	9	5	482	5	VPS13A	9	79824413	Missense_Mutation	SNP	A	TCGA-IW-A3M4-01A-11D-A21Q-09		79824413	61389018	19	11563											
CYP2C19	1557	genome.wustl.edu	37	chr10	96534925	96534925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgattgatcttggagaggaGttttctggaagaggccattt	13	5	2	4			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr10:96534925G>T	ENST00000371321.3	+	2	361	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	93					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGGAGAGGAGTTTTCTGGAA	0.507																																																	0								ENSG00000165841						232	215	221					10																	96534925		2203	4300	6503	CYP2C19	SO:0001583	missense	0			-	HGNC	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.279G>T	10.37:g.96534925G>T	ENSP00000360372:p.Glu93Asp	Somatic	0	230	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	113	118	48.92	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	28	0	0	34	47.69	31	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E93D	ENST00000371321.3	37	c.279	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087510	0.20390	.	.	ENSG00000165841	ENST00000371321	T	0.68765	-0.35	3.74	2.82	0.32997	.	0.295211	0.27816	U	0.017728	T	0.51907	0.1702	L	0.33792	1.035	0.27177	N	0.960761	B	0.06786	0.001	B	0.09377	0.004	T	0.44862	-0.9300	10	0.41790	T	0.15	.	9.2976	0.37824	0.1127:0.0:0.8873:0.0	.	93	P33261	CP2CJ_HUMAN	D	93	ENSP00000360372:E93D	ENSP00000360372:E93D	E	+	3	2	CYP2C19	96524915	0.681000	0.27614	0.965000	0.40720	0.347000	0.29111	-0.302000	0.08221	0.686000	0.31488	0.405000	0.27470	GAG	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	protein_coding	OTTHUMT00000049490.1	G	NM_000769	-		96534925	1	no_errors	ENST00000371321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96534925	G	T	96534925	3	4	162	1	0	0	0	0	1	0	0	0	4168	1020	36	3	285	3	CYP2C19	10	96534925	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		96534925	38999822	20	11564											
VPS11	55823	genome.wustl.edu	37	chr11	118948639	118948639	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgccttttgagcaggcaGagagcaacatgaagcgctac	12	10	0	3			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr11:118948639G>T	ENST00000300793.6	+	11	1663	c.1621G>T	c.(1621-1623)Gag>Tag	p.E541*	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	542					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGAGCAGGCAGAGAGCAACAT	0.502																																																	0								ENSG00000160695						161	159	159					11																	118948639		2060	4209	6269	VPS11	SO:0001587	stop_gained	0			-	HGNC	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1621G>T	11.37:g.118948639G>T	ENSP00000475301:p.Glu541*	Somatic	0	50	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Nonsense_Mutation	SNP	17	0	0	52	0.00	0	pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING	p.E541*	ENST00000300793.6	37	c.1621		11																																																																																			-	superfamily_ARM-type_fold,pirsf_VPS11		0.502	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	protein_coding		G	NM_021729	-		118948639	1	no_errors	ENST00000300793	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	118948639	G	T	118948639	4	4	162	1	0	0	0	0	0	1	0	0	17195	943	33	3	1661	3	VPS11	11	118948639	Nonsense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		118948639	16057877	21	11565											
KRT80	144501	genome.wustl.edu	37	chr12	52566026	52566026	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcctgtaggtggcgatctcGatgtccagggccagcttgac	13	11	1	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr12:52566026G>T	ENST00000394815.2	-	7	1231	c.1134C>A	c.(1132-1134)atC>atA	p.I378I	KRT80_ENST00000313234.5_Silent_p.I378I	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	378	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGGCGATCTCGATGTCCAGGG	0.672																																					GBM(178;2309 2916 15678 35873)												0								ENSG00000167767						94	84	87					12																	52566026		2203	4299	6502	KRT80	SO:0001819	synonymous_variant	0			-	HGNC	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1134C>A	12.37:g.52566026G>T		Somatic	0	125	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	89	38.62	Q6P1A5|Q7Z3Q0	Silent	SNP	21	0	0	23	45.24	19	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.I378	ENST00000394815.2	37	c.1134	CCDS8821.2	12																																																																																			-	pfam_IF		0.672	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT80	protein_coding	OTTHUMT00000316757.1	G	NM_182507	-		52566026	-1	no_errors	ENST00000394815	ensembl	human	known	74_37	silent	SNP	0.801	T	T	52566026	G	T	52566026	2	4	162	1	0	0	0	0	0	0	0	1	8496	1048	37	3		3	KRT80	12	52566026	Silent	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		52566026	81285869	22	11566											
FRY	10129	genome.wustl.edu	37	chr13	32802785	32802785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagctcattgagtttctcaCgaccaggtaataaggggtta	10	8	2	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr13:32802785C>A	ENST00000380250.3	+	40	5895	c.5399C>A	c.(5398-5400)aCg>aAg	p.T1800K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1800						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGTTTCTCACGACCAGGTAA	0.493																																																	0								ENSG00000073910						92	95	94					13																	32802785		1991	4154	6145	FRY	SO:0001583	missense	0			-	HGNC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5399C>A	13.37:g.32802785C>A	ENSP00000369600:p.Thr1800Lys	Somatic	0	77	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	5	85.71	Q9Y3N6	Missense_Mutation	SNP	31	0	0	8	74.19	23	superfamily_ARM-type_fold	p.T1800K	ENST00000380250.3	37	c.5399	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939489	0.92526	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23348	1.91	6.02	6.02	0.97574	.	0.051266	0.85682	D	0.000000	T	0.39860	0.1094	M	0.70595	2.14	0.80722	D	1	P	0.46020	0.871	P	0.47786	0.557	T	0.05178	-1.0901	10	0.17832	T	0.49	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1800	Q5TBA9	FRY_HUMAN	K	1800;637	ENSP00000369600:T1800K	ENSP00000369600:T1800K	T	+	2	0	FRY	31700785	1.000000	0.71417	0.967000	0.41034	0.814000	0.46013	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	ACG	-	NULL		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	C	NM_023037	-		32802785	1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32802785	C	A	32802785	3	1	162	1	0	0	0	0	1	0	0	0	6065	536	19	3	5557	3	FRY	13	32802785	Missense_Mutation	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09		32802785	82367093	23	11567											
NIN	51199	genome.wustl.edu	37	chr14	51196294	51196294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagttcctcctgcaggtgctGgtttatcctttctgcctgca	9	12	1	0			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr14:51196294G>T	ENST00000382041.3	-	29	6215	c.6025C>A	c.(6025-6027)Cag>Aag	p.Q2009K	NIN_ENST00000245441.5_Missense_Mutation_p.Q2009K|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.Q2009K|NIN_ENST00000382043.4_Missense_Mutation_p.Q1296K|NIN_ENST00000453196.1_Missense_Mutation_p.Q2009K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2009					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)					TGCAGGTGCTGGTTTATCCTT	0.517			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								ENSG00000100503						168	155	160					14																	51196294		2203	4300	6503	NIN	SO:0001583	missense	0			-	HGNC	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.6025C>A	14.37:g.51196294G>T	ENSP00000371472:p.Gln2009Lys	Somatic	0	49	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	27	0	0	23	0.00	0	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.Q2009K	ENST00000382041.3	37	c.6025	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.339974|4.339974	0.81911|0.81911	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000453196	.|T;T;T;T	.|0.12569	.|3.41;2.67;3.15;3.08	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.425473	.|0.25851	.|N	.|0.027894	T|T	0.32496|0.32496	0.0831|0.0831	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|P;P;P;P;D	.|0.58268	.|0.804;0.94;0.571;0.94;0.982	.|P;P;B;B;D	.|0.70227	.|0.485;0.69;0.288;0.416;0.968	T|T	0.03534|0.03534	-1.1027|-1.1027	5|10	.|0.10902	.|T	.|0.67	-4.1424|-4.1424	18.181|18.181	0.89777|0.89777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2015;2009;2009;1296;2009	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	Q|K	1499|2009;1992;1296;2015;2009;2009	.|ENSP00000245441:Q2009K;ENSP00000371474:Q1296K;ENSP00000371472:Q2009K;ENSP00000412391:Q2009K	.|ENSP00000245441:Q2009K	P|Q	-|-	2|1	0|0	NIN|NIN	50266044|50266044	0.998000|0.998000	0.40836|0.40836	0.578000|0.578000	0.28575|0.28575	0.986000|0.986000	0.74619|0.74619	5.942000|5.942000	0.70203|0.70203	2.624000|2.624000	0.88883|0.88883	0.650000|0.650000	0.86243|0.86243	CCA|CAG	-	NULL		0.517	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	protein_coding	OTTHUMT00000395207.2	G	NM_182946	-		51196294	-1	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51196294	G	T	51196294	3	4	162	1	0	0	0	0	1	0	0	0	10419	1357	47	3	536	3	NIN	14	51196294	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		51196294	56153246	24	11568											
SLC24A4	123041	genome.wustl.edu	37	chr14	92959954	92959954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttcgtcaacttgccgatGtgccgggaagacgattagcg	12	11	1	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr14:92959954G>T	ENST00000532405.1	+	17	2077	c.1851G>T	c.(1849-1851)atG>atT	p.M617I	SLC24A4_ENST00000351924.5_Missense_Mutation_p.M581I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M598I|SLC24A4_ENST00000298877.1_Missense_Mutation_p.M600I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M553I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	617					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)		ACTTGCCGATGTGCCGGGAAG	0.562																																					NSCLC(10;315 435 10383 28450 38798)												0								ENSG00000140090						150	120	130					14																	92959954		2203	4300	6503	SLC24A4	SO:0001583	missense	0			-	HGNC	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.1851G>T	14.37:g.92959954G>T	ENSP00000431840:p.Met617Ile	Somatic	0	151	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	12	84.62	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	18	5.26	1	3	87.50	21	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.M617I	ENST00000532405.1	37	c.1851	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230516	0.79688	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.68181	-0.3;0.11;0.1;-0.3;-0.31	5.51	5.51	0.81932	.	0.036642	0.85682	D	0.000000	T	0.65637	0.2710	M	0.62723	1.935	0.80722	D	1	B;B	0.28208	0.203;0.066	B;B	0.32211	0.142;0.028	T	0.62167	-0.6911	10	0.09338	T	0.73	.	19.4056	0.94646	0.0:0.0:1.0:0.0	.	598;617	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	I	553;598;617;600;581	ENSP00000376948:M553I;ENSP00000433302:M598I;ENSP00000431840:M617I;ENSP00000298877:M600I;ENSP00000337789:M581I	ENSP00000298877:M600I	M	+	3	0	SLC24A4	92029707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.751000	0.98889	2.582000	0.87167	0.655000	0.94253	ATG	-	NULL		0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	protein_coding	OTTHUMT00000395240.1	G	NM_153646	-		92959954	1	no_errors	ENST00000532405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	92959954	G	T	92959954	3	4	162	1	0	0	0	0	1	0	0	0	14476	1377	48	3	1866	3	SLC24A4	14	92959954	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	41763660	92959954	14389586	25	11569											
C15orf39	56905	genome.wustl.edu	37	chr15	75498693	75498693	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctcgccagcagaaggccctGagaagatgcaggactccagc	13	13	0	3			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr15:75498693G>T	ENST00000360639.2	+	2	624	c.304G>T	c.(304-306)Gag>Tag	p.E102*	C15orf39_ENST00000394987.4_Nonsense_Mutation_p.E102*|C15orf39_ENST00000567617.1_Nonsense_Mutation_p.E102*			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	102						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGAAGGCCCTGAGAAGATGCA	0.607																																																	0								ENSG00000167173						56	48	51					15																	75498693		2197	4295	6492	C15orf39	SO:0001587	stop_gained	0			-	HGNC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.304G>T	15.37:g.75498693G>T	ENSP00000353854:p.Glu102*	Somatic	0	36	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Nonsense_Mutation	SNP	18	0	0	41	0.00	0	NULL	p.E102*	ENST00000360639.2	37	c.304	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.799254	0.96960	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	.	.	.	5.13	4.21	0.49690	.	0.896778	0.09594	N	0.781126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.1414	10.4229	0.44361	0.0918:0.0:0.9082:0.0	.	.	.	.	X	102	.	ENSP00000353854:E102X	E	+	1	0	C15orf39	73285746	0.775000	0.28604	0.895000	0.35142	0.534000	0.34807	3.022000	0.49659	1.155000	0.42497	0.561000	0.74099	GAG	-	NULL		0.607	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	protein_coding	OTTHUMT00000286410.1	G	NM_015492	-		75498693	1	no_errors	ENST00000360639	ensembl	human	known	74_37	nonsense	SNP	0.963	T	T	75498693	G	T	75498693	4	4	162	1	0	0	0	0	0	1	0	0	1795	1291	45	3	306	3	C15orf39	15	75498693	Nonsense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		75498693	27032699	26	11570											
KIAA1267	284058	genome.wustl.edu	37	chr17	44144914	44144914	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagaagagctaaaacttaCgtgttaataactccattgac	7	7	0	3	rs281865470		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr17:44144914C>A	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						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.?(1)									CTAAAACTTACGTGTTAATAA	0.413																																																	1	Unknown(1)	endometrium(1)						ENSG00000120071						116	103	107					17																	44144914		2203	4300	6503	KANSL1	SO:0001630	splice_region_variant	0			-	HGNC	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.1652+1G>T	17.37:g.44144914C>A		Somatic	0	32	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	22	0	0	51	25.00	17	-	e4+1	ENST00000262419.6	37	c.1652+1	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521123	0.64747	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41500736	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.286000	0.65639	2.432000	0.82394	0.655000	0.94253	.	-	-		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	protein_coding	OTTHUMT00000440274.1	C	NM_015443	-	Intron	44144914	-1	no_errors	ENST00000262419	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	44144914	C	A	44144914	5	1	162	1	0	0	0	0	0	0	1	0	8221	550	19	3	1708	3	KIAA1267	17	44144914	Splice_Site	SNP	C	TCGA-IW-A3M4-01A-11D-A21Q-09		44144914	37050296	27	11571											
PTPRT	11122	genome.wustl.edu	37	chr20	40979337	40979337	+	Frame_Shift_Del	DEL	G	G	-													tcgtgtctgtctcattcaatGgggtgtctgtgtcgtactca							TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr20:40979337delG	ENST00000373187.1	-	11	1795	c.1796delC	c.(1795-1797)ccafs	p.P599fs	PTPRT_ENST00000373201.1_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373198.4_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.P599fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	599	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CTCATTCAATGGGGTGTCTGT	0.562																																																	0								ENSG00000196090						167	173	171					20																	40979337		2089	4221	6310	PTPRT	SO:0001589	frameshift_variant	0				HGNC	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.1796delC	20.37:g.40979337delG	ENSP00000362283:p.Pro599fs	Somatic	0	98	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	51	45.16	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	22	0	0	31	44.64	25	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P599fs	ENST00000373187.1	37	c.1796	CCDS42874.1	20																																																																																			-	NULL		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	G				40979337	-1	no_errors	ENST00000373198	ensembl	human	known	74_37	frame_shift_del	DEL	0.994	-	-	40979337	G	-	40979337	7	5	162	1	0	1	0	1	0	0	0	0	12820	1348	47	0	2674	0	PTPRT	20	40979337	Frame_Shift_Del	DEL	G	TCGA-IW-A3M4-01A-11D-A21Q-09		40979337	22046183	28	11572											
STK4	6789	genome.wustl.edu	37	chr20	43600731	43600731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcacaggcagctgaaaaaGttggatgaagatagtttaac	10	5	1	3			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr20:43600731G>T	ENST00000372806.3	+	2	143	c.48G>T	c.(46-48)aaG>aaT	p.K16N	STK4_ENST00000487587.1_3'UTR|STK4_ENST00000372801.1_Missense_Mutation_p.K16N|STK4_ENST00000499879.2_Missense_Mutation_p.K16N|STK4_ENST00000396731.4_Missense_Mutation_p.K16N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	16					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGCTGAAAAAGTTGGATGAAG	0.299																																					GBM(187;1039 2137 11798 21916 33213)												0								ENSG00000101109						123	138	133					20																	43600731		2203	4300	6503	STK4	SO:0001583	missense	0			-	HGNC		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.48G>T	20.37:g.43600731G>T	ENSP00000361892:p.Lys16Asn	Somatic	0	48	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	34	0	0	50	0.00	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K16N	ENST00000372806.3	37	c.48	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050615	0.55218	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.73363	-0.73;-0.74;-0.74;0.32	5.41	1.94	0.25998	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	L	0.34521	1.04	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;0.998;0.996;0.996	D;D;D;D	0.83275	0.996;0.962;0.917;0.954	T	0.77563	-0.2541	10	0.87932	D	0	.	10.7459	0.46181	0.2593:0.0:0.7407:0.0	.	16;16;16;16	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	N	16	ENSP00000361892:K16N;ENSP00000379957:K16N;ENSP00000361887:K16N;ENSP00000443514:K16N	ENSP00000361887:K16N	K	+	3	2	STK4	43034145	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	3.368000	0.52357	0.789000	0.33779	-0.794000	0.03295	AAG	-	superfamily_Kinase-like_dom		0.299	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	protein_coding	OTTHUMT00000080401.4	G	NM_006282	-		43600731	1	no_errors	ENST00000372806	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43600731	G	T	43600731	3	4	162	1	0	0	0	0	1	0	0	0	15313	1020	36	3	54	3	STK4	20	43600731	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09	2621394	43600731	19424789	29	11573											
MORC3	23515	genome.wustl.edu	37	chr21	37709262	37709272	+	Frame_Shift_Del	DEL	ATGGGAATGGT	ATGGGAATGGT	-													atgcttgacattcaccgacaAtgggaatggtatgacttctg							TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	ATGGGAATGGT	ATGGGAATGGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr21:37709262_37709272delATGGGAATGGT	ENST00000400485.1	+	3	279_289	c.203_213delATGGGAATGGT	c.(202-213)aatgggaatggtfs	p.NGNG68fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	68					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.G69E(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						TTCACCGACAATGGGAATGGTATGACTTCTG	0.346																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000159256																																			MORC3	SO:0001589	frameshift_variant	0				HGNC	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.203_213delATGGGAATGGT	21.37:g.37709262_37709272delATGGGAATGGT	ENSP00000383333:p.Asn68fs	Somatic					0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8KA92|Q9UEZ2	Frame_Shift_Del	DEL	34	0	0	53	19.70	13	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G69fs	ENST00000400485.1	37	c.203_213	CCDS42924.1	21																																																																																			-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd		0.346	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	protein_coding	OTTHUMT00000194640.1	ATGGGAATGGT	NM_015358			37709272	1	no_errors	ENST00000400485	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.999:1.000:1.000:0.996:1.000:1.000:0.967:1.000:1.000:0.229	-	-	37709272	ATGGGAATGGT	-	37709262	7	5	162	1	0	1	0	1	0	0	0	0	9705	101	4	0	213	0	MORC3	21	37709262	Frame_Shift_Del	DEL	ATGGGAATGGT	TCGA-IW-A3M4-01A-11D-A21Q-09		37709262	10420633	30	11574											
PATZ1	23598	genome.wustl.edu	37	chr22	31740715	31740715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacatagaccgcatggaaGgatgcctgcctccctcaggc	10	15	1	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr22:31740715G>T	ENST00000266269.5	-	1	1503	c.874C>A	c.(874-876)Ctt>Att	p.L292I	PATZ1_ENST00000351933.4_Missense_Mutation_p.L292I|PATZ1_ENST00000405309.3_Missense_Mutation_p.L292I|PATZ1_ENST00000215919.3_Missense_Mutation_p.L292I|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	292					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCGCATGGAAGGATGCCTGCC	0.652																																																	0								ENSG00000100105						41	32	35					22																	31740715		2203	4300	6503	PATZ1	SO:0001583	missense	0			-	HGNC	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.874C>A	22.37:g.31740715G>T	ENSP00000266269:p.Leu292Ile	Somatic	0	39	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	21	0	0	22	40.54	15	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L292I	ENST00000266269.5	37	c.874	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450609	0.63290	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.138036	0.49305	D	0.000144	T	0.61652	0.2364	N	0.14661	0.345	0.43729	D	0.996219	P;D;P;D	0.56035	0.75;0.974;0.93;0.974	B;D;P;D	0.70487	0.281;0.969;0.472;0.969	T	0.69250	-0.5194	10	0.72032	D	0.01	-8.8875	16.8089	0.85713	0.0:0.0:1.0:0.0	.	292;292;292;292	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	I	292	ENSP00000266269:L292I;ENSP00000384173:L292I;ENSP00000337520:L292I;ENSP00000215919:L292I	ENSP00000215919:L292I	L	-	1	0	PATZ1	30070715	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.117000	0.71577	2.211000	0.71520	0.561000	0.74099	CTT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	protein_coding	OTTHUMT00000321932.1	G	NM_032052	-		31740715	-1	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31740715	G	T	31740715	3	4	162	1	0	0	0	0	1	0	0	0	11478	1000	35	3	1492	3	PATZ1	22	31740715	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		31740715	19563851	31	11575											
IRS4	8471	genome.wustl.edu	37	chrX	107975899	107975899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaatcttctctctccgGgggtcttggcacccggcgac	12	14	5	1			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chrX:107975899G>A	ENST00000372129.2	-	1	3752	c.3676C>T	c.(3676-3678)Ccg>Tcg	p.P1226S	RP6-24A23.6_ENST00000563887.1_Missense_Mutation_p.P7S	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1226					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTCTCTCCGGGGGTCTTGGC	0.572																																																	0								ENSG00000133124						105	106	105					X																	107975899		2203	4300	6503	IRS4	SO:0001583	missense	0			-	HGNC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3676C>T	X.37:g.107975899G>A	ENSP00000361202:p.Pro1226Ser	Somatic	0	72	0		0.729591969040005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	43	51.11		Missense_Mutation	SNP	29	0	0	28	47.17	25	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1226S	ENST00000372129.2	37	c.3676	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887156	0.52014	.	.	ENSG00000133124	ENST00000372129	T	0.42131	0.98	4.39	3.53	0.40419	.	0.768746	0.11742	N	0.533909	T	0.25232	0.0613	N	0.24115	0.695	0.20703	N	0.999864	B	0.25312	0.123	B	0.15870	0.014	T	0.15925	-1.0420	10	0.20046	T	0.44	0.0119	7.1375	0.25537	0.1213:0.0:0.8787:0.0	.	1226	O14654	IRS4_HUMAN	S	1226	ENSP00000361202:P1226S	ENSP00000361202:P1226S	P	-	1	0	IRS4	107862555	0.912000	0.30974	0.752000	0.31206	0.523000	0.34469	2.345000	0.44018	1.199000	0.43173	0.600000	0.82982	CCG	-	NULL		0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	G	NM_003604	-		107975899	-1	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	SNP	0.702	A	A	107975899	G	A	107975899	3	1	162	1	0	0	0	0	1	0	0	0	7844	1232	43	2	101	2	IRS4	23	107975899	Missense_Mutation	SNP	G	TCGA-IW-A3M4-01A-11D-A21Q-09		107975899	47294661	32	11576											
CPT2	1376	genome.wustl.edu	37	chr1	53666452	53666452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcacagaagcctctcTtgaatgatggccagttcagg	11	10	3	3			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr1:53666452T>C	ENST00000371486.3	+	2	729	c.214T>C	c.(214-216)Ttg>Ctg	p.L72L	CPT2_ENST00000468572.1_3'UTR	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	72					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GAAGCCTCTCTTGAATGATGG	0.507																																																	0								ENSG00000157184						129	116	121					1																	53666452		2203	4300	6503	CPT2	SO:0001819	synonymous_variant	0			-	HGNC	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.214T>C	1.37:g.53666452T>C		Somatic	0	114	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	47	67.13	B2R6S0|Q5SW68|Q9BQ26	Silent	SNP	31	0	0	16	67.35	33	pfam_Carn_acyl_trans	p.L72	ENST00000371486.3	37	c.214	CCDS575.1	1																																																																																			-	pfam_Carn_acyl_trans		0.507	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	protein_coding	OTTHUMT00000024757.1	T	NM_000098	-		53666452	1	no_errors	ENST00000371486	ensembl	human	known	74_37	silent	SNP	0.983	C	C	53666452	T	C	53666452	2	2	163	1	0	0	0	0	0	0	0	1	3836	1606	56	5		5	CPT2	1	53666452	Silent	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09		53666452	195584169	1	11577											
AMY2B	280	genome.wustl.edu	37	chr1	104115829	104115829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgggattttaatgatGgtaaatgtaaaactggaagt	12	2	0	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr1:104115829G>T	ENST00000361355.4	+	5	1076	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	154					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTTAATGATGGTAAATGTAA	0.408																																																	0								ENSG00000240038						206	220	215					1																	104115829		2203	4295	6498	AMY2B	SO:0001583	missense	0			-	HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.460G>T	1.37:g.104115829G>T	ENSP00000354610:p.Gly154Cys	Somatic	0	221	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	211	25.35	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	37	0	0	42	32.26	20	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.G154C	ENST00000361355.4	37	c.460	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363333	0.61513	.	.	ENSG00000240038	ENST00000361355	D	0.98455	-4.94	4.58	4.58	0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.330338	0.34435	N	0.003978	D	0.97052	0.9037	M	0.77103	2.36	0.38731	D	0.953665	P	0.45902	0.868	P	0.47134	0.539	D	0.97483	1.0048	10	0.72032	D	0.01	.	9.3615	0.38199	0.0:0.1563:0.6821:0.1616	.	154	P19961	AMY2B_HUMAN	C	154	ENSP00000354610:G154C	ENSP00000354610:G154C	G	+	1	0	AMY2B	103917352	0.789000	0.28775	0.999000	0.59377	0.976000	0.68499	0.852000	0.27764	2.104000	0.64026	0.644000	0.83932	GGT	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	G	NM_020978	-		104115829	1	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	SNP	0.979	T	T	104115829	G	T	104115829	3	4	163	1	0	0	0	0	1	0	0	0	595	1348	47	3	470	3	AMY2B	1	104115829	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	50449377	104115829	145134792	2	11578											
RGL1	23179	genome.wustl.edu	37	chr1	183881229	183881229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccagactgtttctagggTctgacatgatcaccagtccc	8	12	3	3			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr1:183881229T>C	ENST00000360851.3	+	15	1754	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	RGL1_ENST00000536277.1_Missense_Mutation_p.S524P|RGL1_ENST00000304685.4_Missense_Mutation_p.S561P|RGL1_ENST00000539189.1_Missense_Mutation_p.S497P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	526					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						GTTTCTAGGGTCTGACATGAT	0.478																																																	0								ENSG00000143344						74	70	71					1																	183881229		2203	4300	6503	RGL1	SO:0001583	missense	0			-	HGNC	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.1576T>C	1.37:g.183881229T>C	ENSP00000354097:p.Ser526Pro	Somatic	0	46	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	55	12.70	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	31	0	0	52	10.34	6	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S561P	ENST00000360851.3	37	c.1681		1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.503342	0.26949	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.53857	0.61;0.61;0.62;0.6;0.62	5.32	1.52	0.23074	Ras guanine nucleotide exchange factor, domain (1);	0.651138	0.15608	N	0.253526	T	0.38214	0.1032	L	0.43152	1.355	0.39600	D	0.969728	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.001;0.001	T	0.16188	-1.0411	10	0.41790	T	0.15	.	3.5612	0.07882	0.1339:0.0738:0.1399:0.6524	.	497;524;331;526;561	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	P	561;561;524;331;526;497	ENSP00000303192:S561P;ENSP00000356501:S561P;ENSP00000438662:S524P;ENSP00000354097:S526P;ENSP00000437355:S497P	ENSP00000303192:S561P	S	+	1	0	RGL1	182147852	0.017000	0.18338	0.749000	0.31150	0.572000	0.35998	0.084000	0.14891	0.001000	0.14605	0.402000	0.26972	TCT	-	superfamily_Ras_GEF_dom		0.478	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	protein_coding	OTTHUMT00000085742.1	T	NM_015149	-		183881229	1	no_errors	ENST00000304685	ensembl	human	known	74_37	missense	SNP	0.853	C	C	183881229	T	C	183881229	3	2	163	1	0	0	0	0	1	0	0	0	13284	1667	58	5	1739	5	RGL1	1	183881229	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09	79765400	183881229	65369392	3	11579											
LTBP1	4052	genome.wustl.edu	37	chr2	33589422	33589422	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgaccggctgagtcaaaCggtatgtttccaggagatgc	12	9	1	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr2:33589422C>T	ENST00000404816.2	+	30	4892	c.4539C>T	c.(4537-4539)aaC>aaT	p.N1513N	LTBP1_ENST00000354476.3_Splice_Site_p.N1514N|LTBP1_ENST00000390003.4_Splice_Site_p.N1188N|LTBP1_ENST00000407925.1_Splice_Site_p.N1187N|LTBP1_ENST00000272273.5_Splice_Site_p.N411N|LTBP1_ENST00000418533.2_Splice_Site_p.N1145N|LTBP1_ENST00000404525.1_Splice_Site_p.N1134N|LTBP1_ENST00000402934.1_Splice_Site_p.N1132N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1513					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGAGTCAAACGGTATGTTTC	0.403																																																	0								ENSG00000049323						79	74	75					2																	33589422		2203	4300	6503	LTBP1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4540+1C>T	2.37:g.33589422C>T		Somatic	0	44	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	53	35.37	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	31	0	0	34	48.48	32	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.N1514	ENST00000404816.2	37	c.4542	CCDS33177.2	2																																																																																			-	NULL		0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	C	NM_206943	-	Silent	33589422	1	no_errors	ENST00000354476	ensembl	human	known	74_37	silent	SNP	0.998	T	T	33589422	C	T	33589422	5	4	163	1	0	0	0	0	0	0	1	0	9075	550	19	1	4712	1	LTBP1	2	33589422	Splice_Site	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		33589422	209609951	4	11580											
OLA1	29789	genome.wustl.edu	37	chr2	175006589	175006601	+	Frame_Shift_Del	DEL	AGCCACCTTTTCT	AGCCACCTTTTCT	-													tttttatctcctcctctcacAgccaccttttctagtttatc							TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	AGCCACCTTTTCT	AGCCACCTTTTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr2:175006589_175006601delAGCCACCTTTTCT	ENST00000409546.1	-	5	1191_1203	c.561_573delAGAAAAGGTGGCT	c.(559-573)ctagaaaaggtggctfs	p.LEKVA187fs	OLA1_ENST00000344357.5_Frame_Shift_Del_p.LEKVA9fs|OLA1_ENST00000284719.3_Frame_Shift_Del_p.LEKVA167fs|OLA1_ENST00000428402.2_Frame_Shift_Del_p.LEKVA167fs					Obg-like ATPase 1									p.A171P(1)|p.E168Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCCTCTCACAGCCACCTTTTCTAGTTTATCTA	0.31																																																	2	Substitution - Missense(2)	ovary(1)|breast(1)						ENSG00000138430																																			OLA1	SO:0001589	frameshift_variant	0				HGNC		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.561_573delAGAAAAGGTGGCT	2.37:g.175006589_175006601delAGCCACCTTTTCT	ENSP00000386350:p.Leu187fs	Somatic					0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL	28	0	0	42	20.75	11	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.E168fs	ENST00000409546.1	37	c.513_501		2																																																																																			-	superfamily_P-loop_NTPase,pirsf_CHP00092,tigrfam_CHP00092		0.31	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	protein_coding	OTTHUMT00000333877.1	AGCCACCTTTTCT	NM_013341			175006601	-1	no_errors	ENST00000284719	ensembl	human	known	74_37	frame_shift_del	DEL	0.999:1.000:1.000:1.000:1.000:0.999:0.969:1.000:1.000:1.000:1.000:1.000:1.000	-	-	175006601	AGCCACCTTTTCT	-	175006589	7	5	163	1	0	1	0	1	0	0	0	0	10852	175	7	0	705	0	OLA1	2	175006589	Frame_Shift_Del	DEL	AGCCACCTTTTCT	TCGA-IW-A3M5-01A-22D-A21Q-09	141417167	175006589	68192784	5	11581											
ESPNL	339768	genome.wustl.edu	37	chr2	239040214	239040214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgggcccctgcctcaCgccgccgtcccctgcagcgg	12	21	1	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr2:239040214C>T	ENST00000343063.3	+	9	3122	c.2859C>T	c.(2857-2859)caC>caT	p.H953H	ESPNL_ENST00000409506.1_Silent_p.H585H|ESPNL_ENST00000409169.1_Silent_p.H909H|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	953										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCTGCCTCACGCCGCCGTCC	0.682																																																	0								ENSG00000144488						15	17	16					2																	239040214		2194	4295	6489	ESPNL	SO:0001819	synonymous_variant	0			-	HGNC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2859C>T	2.37:g.239040214C>T		Somatic	0	20	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	24	0	0	34	39.29	22	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H953	ENST00000343063.3	37	c.2859	CCDS2525.1	2																																																																																			-	NULL		0.682	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	protein_coding	OTTHUMT00000257164.2	C	NM_194312	-		239040214	1	no_errors	ENST00000343063	ensembl	human	known	74_37	silent	SNP	0.000	T	T	239040214	C	T	239040214	2	4	163	1	0	0	0	0	0	0	0	1	5257	535	19	1		1	ESPNL	2	239040214	Silent	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	64033625	239040214	4159159	6	11582											
RAD54L2	23132	genome.wustl.edu	37	chr3	51667774	51667774	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtccttgccattgtgcCggtaagagtttttgggaagg	13	7	0	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr3:51667774C>T	ENST00000409535.2	+	7	1132	c.1007C>T	c.(1006-1008)cCg>cTg	p.P336L	RAD54L2_ENST00000296477.3_Splice_Site_p.P30L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	336	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCATTGTGCCGGTAAGAGTT	0.512																																																	0								ENSG00000164080						69	70	70					3																	51667774		2203	4300	6503	RAD54L2	SO:0001630	splice_region_variant	0			-	HGNC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1008+1C>T	3.37:g.51667774C>T		Somatic	0	48	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	4	85.19	Q8TB57|Q9BV54	Missense_Mutation	SNP	33	0	0	5	85.71	30	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P336L	ENST00000409535.2	37	c.1007	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	C	32	5.121456	0.94385	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.97994	-4.65;-4.65	5.19	5.19	0.71726	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98256	1.0496	10	0.87932	D	0	-11.4359	17.6911	0.88269	0.0:1.0:0.0:0.0	.	336	Q9Y4B4	ARIP4_HUMAN	L	336;30	ENSP00000386520:P336L;ENSP00000296477:P30L	ENSP00000296477:P30L	P	+	2	0	RAD54L2	51642814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.396000	0.81511	0.655000	0.94253	CCG	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.512	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	protein_coding	OTTHUMT00000328700.2	C	NM_015106	-	Missense_Mutation	51667774	1	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51667774	C	T	51667774	5	4	163	1	0	0	0	0	0	0	1	0	13002	666	23	1	1029	1	RAD54L2	3	51667774	Splice_Site	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		51667774	146354656	7	11583											
ECT2	1894	genome.wustl.edu	37	chr3	172474880	172474880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acggactttcaggattctgtCtttaatgacctctacaaggc	8	10	4	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr3:172474880C>T	ENST00000392692.3	+	5	587	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ECT2_ENST00000232458.5_Silent_p.V106V|ECT2_ENST00000427830.1_Silent_p.V106V|ECT2_ENST00000417960.1_Silent_p.V105V|ECT2_ENST00000441497.2_Silent_p.V106V|ECT2_ENST00000540509.1_Silent_p.V137V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	137					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGGATTCTGTCTTTAATGACC	0.363																																																	0								ENSG00000114346						114	118	117					3																	172474880		2203	4300	6503	ECT2	SO:0001819	synonymous_variant	0			-	HGNC	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.411C>T	3.37:g.172474880C>T		Somatic	0	53	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	89	25.83	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	31	0	0	87	29.84	37	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.V106	ENST00000392692.3	37	c.318	CCDS58860.1	3																																																																																			-	NULL		0.363	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	protein_coding	OTTHUMT00000345994.2	C	NM_018098	-		172474880	1	no_errors	ENST00000427830	ensembl	human	known	74_37	silent	SNP	0.997	T	T	172474880	C	T	172474880	2	4	163	1	0	0	0	0	0	0	0	1	4903	900	32	2		2	ECT2	3	172474880	Silent	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	120807106	172474880	25547550	8	11584											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)						ENSG00000121879						99	89	92					3																	178952085		1912	4130	6042	PIK3CA	SO:0001583	missense	0			-	HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic	0	19	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	1	97.62	Q14CW1|Q99762	Missense_Mutation	SNP	39	2.5	1	10	92.31	120	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	A		rs121913279		178952085	1	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178952085	A	G	178952085	3	3	163	1	0	0	0	0	1	0	0	0	11915	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-IW-A3M5-01A-22D-A21Q-09	6477205	178952085	19070345	9	11585											
YIPF7	285525	genome.wustl.edu	37	chr4	44626623	44626623	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacacagacacttactgcagTgaaaagaacatggcgcaacc	8	12	0	3			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr4:44626623T>A	ENST00000332990.5	-	5	691	c.675A>T	c.(673-675)tcA>tcT	p.S225S	YIPF7_ENST00000415895.4_Silent_p.S201S	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	225						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTTACTGCAGTGAAAAGAACA	0.522																																																	0								ENSG00000177752						44	49	47					4																	44626623		2089	4229	6318	YIPF7	SO:0001819	synonymous_variant	0			-	HGNC	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"Yip1 domain family"	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.675A>T	4.37:g.44626623T>A		Somatic	0	22	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	3	82.35	Q3SY21|Q3SY22	Silent	SNP	22	0	0	5	87.50	35	pfam_Yip1	p.S225	ENST00000332990.5	37	c.675	CCDS54766.1	4	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850989	0.02651	.	.	ENSG00000177752	ENST00000415895	.	.	.	5.0	-2.03	0.07365	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26643	-1.0097	4	.	.	.	-9.5724	1.6218	0.02715	0.1123:0.2042:0.2322:0.4512	.	.	.	.	S	202	.	.	T	-	1	0	YIPF7	44321380	0.005000	0.15991	0.572000	0.28498	0.077000	0.17291	-0.991000	0.03728	-0.474000	0.06862	-1.137000	0.01932	ACT	-	pfam_Yip1		0.522	YIPF7-201	KNOWN	basic|CCDS	protein_coding	YIPF7	protein_coding		T	NM_182592	-		44626623	-1	no_errors	ENST00000332990	ensembl	human	known	74_37	silent	SNP	0.331	A	A	44626623	T	A	44626623	2	1	163	1	0	0	0	0	0	0	0	1	17490	1683	59	5		5	YIPF7	4	44626623	Silent	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09		44626623	146527653	10	11586											
TTC37	9652	genome.wustl.edu	37	chr5	94864706	94864706	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagtatcaaaaataccTtgactgcatgaaagaacagc	6	8	1	3			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr5:94864706T>C	ENST00000358746.2	-	12	1291	c.993A>G	c.(991-993)caA>caG	p.Q331Q		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	331						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CAAAAATACCTTGACTGCATG	0.373																																																	0								ENSG00000198677						80	69	73					5																	94864706		2203	4300	6503	TTC37	SO:0001630	splice_region_variant	0			-	HGNC	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.994+1A>G	5.37:g.94864706T>C		Somatic	0	27	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	10	65.52	O15077|Q6PJI3	Silent	SNP	46	0	0	25	48.98	24	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q331	ENST00000358746.2	37	c.993	CCDS4072.1	5																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.373	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	protein_coding	OTTHUMT00000241651.1	T	NM_014639	-	Silent	94864706	-1	no_errors	ENST00000358746	ensembl	human	known	74_37	silent	SNP	1.000	C	C	94864706	T	C	94864706	5	2	163	1	0	0	0	0	0	0	1	0	16712	1623	56	5	3829	5	TTC37	5	94864706	Splice_Site	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09		94864706	86050554	11	11587											
GIN1	54826	genome.wustl.edu	37	chr5	102440484	102440484	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatggattttccaccttgaGaaggtgctgtttcggtgcta	11	9	0	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr5:102440484G>A	ENST00000399004.2	-	4	494	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Missense_Mutation_p.L134F	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	134					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TCCACCTTGAGAAGGTGCTGT	0.383																																																	0								ENSG00000145723						97	91	93					5																	102440484		1873	4112	5985	GIN1	SO:0001583	missense	0			-	HGNC	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.400C>T	5.37:g.102440484G>A	ENSP00000381970:p.Leu134Phe	Somatic	0	35	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	37	0	0	38	20.83	10	pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.L134F	ENST00000399004.2	37	c.400	CCDS43349.1	5	.	.	.	.	.	.	.	.	.	.	G	1.691	-0.503933	0.04261	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.39997	1.05;1.05	5.74	3.93	0.45458	Ribonuclease H-like (1);	0.417238	0.20258	N	0.095928	T	0.33556	0.0867	L	0.38175	1.15	0.22292	N	0.999221	P;B	0.39535	0.677;0.435	B;B	0.42138	0.377;0.3	T	0.24870	-1.0148	10	0.72032	D	0.01	-14.714	5.0805	0.14653	0.0747:0.2488:0.5322:0.1443	.	134;134	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	F	134	ENSP00000381970:L134F;ENSP00000427162:L134F	ENSP00000381970:L134F	L	-	1	0	GIN1	102468383	0.999000	0.42202	0.945000	0.38365	0.016000	0.09150	1.246000	0.32803	0.735000	0.32537	-0.315000	0.08773	CTC	-	superfamily_RNaseH-like_dom		0.383	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	protein_coding	OTTHUMT00000370478.3	G	NM_017676	-		102440484	-1	no_errors	ENST00000399004	ensembl	human	known	74_37	missense	SNP	0.513	A	A	102440484	G	A	102440484	3	1	163	1	0	0	0	0	1	0	0	0	6388	942	33	2	1188	2	GIN1	5	102440484	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	7575778	102440484	78474776	12	11588											
CYFIP2	26999	genome.wustl.edu	37	chr5	156810368	156810368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctggggacccctcagGtaccaatcttatataataaa	9	10	2	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr5:156810368G>A	ENST00000521420.1	+	27	3220		c.e27+1		CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000522463.1_Splice_Site|CTB-47B11.3_ENST00000520658.1_RNA|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000442283.2_Splice_Site|CYFIP2_ENST00000347377.6_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCCCTCAGGTACCAATCTT	0.547																																																	0								ENSG00000055163						23	26	25					5																	156810368		1861	4095	5956	CYFIP2	SO:0001630	splice_region_variant	0			-	HGNC	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3129+1G>A	5.37:g.156810368G>A		Somatic	0	36	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64		Splice_Site	SNP	30	0	0	39	26.42	14	-	e29+1	ENST00000521420.1	37	c.3282+1		5	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310410	0.60414	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0478	0.89338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYFIP2	156742946	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	9.676000	0.98643	2.254000	0.74563	0.563000	0.77884	.	-	-		0.547	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	G	NM_001037332	-	Intron	156810368	1	no_errors	ENST00000318218	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	156810368	G	A	156810368	5	1	163	1	0	0	0	0	0	0	1	0	4140	1275	44	2	3314	2	CYFIP2	5	156810368	Splice_Site	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	54369884	156810368	24104892	13	11589											
NKAPL	222698	genome.wustl.edu	37	chr6	28227274	28227274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgggatggctgttcccGctctcactcccgcggccgtg	12	16	2	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr6:28227274G>A	ENST00000343684.3	+	1	177	c.125G>A	c.(124-126)cGc>cAc	p.R42H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	42										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGCTGTTCCCGCTCTCACTCC	0.652																																																	0								ENSG00000189134						44	46	45					6																	28227274		2203	4300	6503	NKAPL	SO:0001583	missense	0			-	HGNC	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.125G>A	6.37:g.28227274G>A	ENSP00000345716:p.Arg42His	Somatic	0	28	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	26	54.39	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	12	0	0	36	34.55	19	pfam_DUF926	p.R42H	ENST00000343684.3	37	c.125	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696038	0.30052	.	.	ENSG00000189134	ENST00000343684	T	0.18502	2.21	3.99	2.1	0.27182	.	1.245590	0.05707	N	0.595259	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42916	-0.9423	10	0.23891	T	0.37	0.8902	5.9432	0.19203	0.2595:0.0:0.7405:0.0	.	42	Q5M9Q1	NKAPL_HUMAN	H	42	ENSP00000345716:R42H	ENSP00000345716:R42H	R	+	2	0	NKAPL	28335253	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.294000	0.19047	0.416000	0.25844	-0.192000	0.12808	CGC	-	NULL		0.652	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	protein_coding	OTTHUMT00000040185.1	G		-		28227274	1	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	SNP	0.000	A	A	28227274	G	A	28227274	3	1	163	1	0	0	0	0	1	0	0	0	10442	1087	38	1	127	1	NKAPL	6	28227274	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09		28227274	142887793	14	11590											
CUL7	9820	genome.wustl.edu	37	chr6	43006382	43006385	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cccaatcgcctgattgagcaTgtctgcggagagccctgaga							TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr6:43006382_43006385delTGTC	ENST00000265348.3	-	24	4571_4574	c.4486_4489delGACA	c.(4486-4491)gacatgfs	p.DM1496fs	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Frame_Shift_Del_p.DM1580fs			Q14999	CUL7_HUMAN	cullin 7	1496					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGATTGAGCATGTCTGCGGAGAGC	0.578																																																	0								ENSG00000044090																																			CUL7	SO:0001589	frameshift_variant	0				HGNC	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4486_4489delGACA	6.37:g.43006382_43006385delTGTC	ENSP00000265348:p.Asp1496fs	Somatic	0	10	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B4DYZ0|F5H0L1|Q5T654	Frame_Shift_Del	DEL	31	0	0	32	43.86	25	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.D1580fs	ENST00000265348.3	37	c.4741_4738	CCDS4881.1	6																																																																																			-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology		0.578	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	protein_coding	OTTHUMT00000040575.1	TGTC	NM_014780			43006385	-1	no_errors	ENST00000535468	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.119:0.159	-	-	43006385	TGTC	-	43006382	7	5	163	1	0	1	0	1	0	0	0	0	4062	1464	51	0	619	0	CUL7	6	43006382	Frame_Shift_Del	DEL	TGTC	TCGA-IW-A3M5-01A-22D-A21Q-09	14779108	43006382	128108685	15	11591											
BAI3	577	genome.wustl.edu	37	chr6	69348841	69348841	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctggcttatcagtttgatCatttttcccatgaaaaaata	5	8	2	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr6:69348841C>G	ENST00000370598.1	+	3	1095	c.274C>G	c.(274-276)Cat>Gat	p.H92D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	92	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGTTTGATCATTTTTCCCA	0.333																																																	0								ENSG00000135298						53	59	57					6																	69348841		2201	4300	6501	BAI3	SO:0001583	missense	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.274C>G	6.37:g.69348841C>G	ENSP00000359630:p.His92Asp	Somatic	0	38	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	37	0	0	52	18.75	12	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.H92D	ENST00000370598.1	37	c.274	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628782	0.28978	.	.	ENSG00000135298	ENST00000370598	T	0.49432	0.78	5.32	5.32	0.75619	CUB (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	L	0.50333	1.59	0.80722	D	1	P	0.50156	0.932	P	0.61397	0.888	T	0.51942	-0.8641	10	0.46703	T	0.11	.	19.3677	0.94471	0.0:1.0:0.0:0.0	.	92	O60242	BAI3_HUMAN	D	92	ENSP00000359630:H92D	ENSP00000359630:H92D	H	+	1	0	BAI3	69405562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.634000	0.89283	0.655000	0.94253	CAT	-	pfscan_CUB_dom		0.333	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	C		-		69348841	1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	SNP	1.000	G	G	69348841	C	G	69348841	3	3	163	1	0	0	0	0	1	0	0	0	1300	826	29	4	276	4	BAI3	6	69348841	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	26342459	69348841	101766226	16	11592											
C6orf167	253714	genome.wustl.edu	37	chr6	97626435	97626435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatagtaatcttgtcagttTgaccaactgtttcatgtact	6	7	3	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr6:97626435T>G	ENST00000275053.4	-	18	2828	c.2563A>C	c.(2563-2565)Aaa>Caa	p.K855Q	MMS22L_ENST00000369251.2_Missense_Mutation_p.K815Q	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	855					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTGTCAGTTTGACCAACTGT	0.279																																																	0								ENSG00000146263						46	48	47					6																	97626435		2201	4288	6489	MMS22L	SO:0001583	missense	0			-	HGNC		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2563A>C	6.37:g.97626435T>G	ENSP00000275053:p.Lys855Gln	Somatic	0	51	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	30	47.37	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	29	0	0	24	60.00	36	superfamily_ARM-type_fold	p.K855Q	ENST00000275053.4	37	c.2563	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	9.172	1.021307	0.19433	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.29917	1.55;1.55	5.87	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	N	0.08118	0	0.19300	N	0.999978	B;B	0.14438	0.01;0.01	B;B	0.18561	0.022;0.014	T	0.25363	-1.0134	10	0.42905	T	0.14	-7.5766	15.9117	0.79477	0.0:0.8808:0.0:0.1192	.	815;855	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Q	855;815	ENSP00000275053:K855Q;ENSP00000358254:K815Q	ENSP00000275053:K855Q	K	-	1	0	MMS22L	97733156	0.995000	0.38212	0.423000	0.26634	0.091000	0.18340	2.870000	0.48451	0.420000	0.25954	-1.736000	0.00690	AAA	-	superfamily_ARM-type_fold		0.279	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	protein_coding	OTTHUMT00000041573.3	T	NM_198468	-		97626435	-1	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	SNP	0.895	G	G	97626435	T	G	97626435	3	3	163	1	0	0	0	0	1	0	0	0	2344	1821	63	5	1200	5	C6orf167	6	97626435	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09	28277594	97626435	73488632	17	11593											
SHPRH	257218	genome.wustl.edu	37	chr6	146268768	146268768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccagaatttgggtacTcacgaatgatgctgaggaaa	13	8	1	3			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr6:146268768T>C	ENST00000367505.2	-	6	1337	c.1073A>G	c.(1072-1074)gAg>gGg	p.E358G	SHPRH_ENST00000275233.7_Missense_Mutation_p.E358G|SHPRH_ENST00000367503.3_Missense_Mutation_p.E358G|SHPRH_ENST00000438092.2_Missense_Mutation_p.E358G			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	358	Helicase ATP-binding; first part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATTTGGGTACTCACGAATGAT	0.393																																																	0								ENSG00000146414						88	83	84					6																	146268768		1870	4111	5981	SHPRH	SO:0001583	missense	0			-	HGNC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1073A>G	6.37:g.146268768T>C	ENSP00000356475:p.Glu358Gly	Somatic	0	20	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	28	0	0	34	40.35	23	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.E358G	ENST00000367505.2	37	c.1073	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772356	0.69992	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.59	5.59	0.84812	DEAD-like helicase (1);SNF2-related (1);	0.164549	0.38663	N	0.001603	D	0.93223	0.7841	M	0.64997	1.995	0.58432	D	0.999991	P;P;P;P	0.45569	0.836;0.861;0.649;0.604	B;P;B;B	0.51297	0.319;0.665;0.237;0.22	D	0.94035	0.7304	10	0.66056	D	0.02	-7.0607	15.769	0.78149	0.0:0.0:0.0:1.0	.	247;358;358;247	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	G	358;358;358;358;247	ENSP00000356475:E358G;ENSP00000356473:E358G;ENSP00000412797:E358G;ENSP00000275233:E358G	ENSP00000275233:E358G	E	-	2	0	SHPRH	146310461	1.000000	0.71417	0.988000	0.46212	0.868000	0.49771	8.040000	0.89188	2.118000	0.64928	0.482000	0.46254	GAG	-	pfam_SNF2_N,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_Helicase_ATP-bd		0.393	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	protein_coding	OTTHUMT00000042571.2	T	NM_173082	-		146268768	-1	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	SNP	1.000	C	C	146268768	T	C	146268768	3	2	163	1	0	0	0	0	1	0	0	0	14299	1551	54	5	4122	5	SHPRH	6	146268768	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09	48642333	146268768	24846299	18	11594											
ZNF777	27153	genome.wustl.edu	37	chr7	149153007	149153007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctttgggaggaagaacgCgggattggaacagagtttct	14	5	2	2	rs374336310		TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr7:149153007C>A	ENST00000247930.4	-	2	430	c.107G>T	c.(106-108)cGc>cTc	p.R36L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGGAAGAACGCGGGATTGGAA	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		16142	0		0	False		,,,				2504	0																0								ENSG00000196453						76	82	80					7																	149153007		1881	4104	5985	ZNF777	SO:0001583	missense	0			-	HGNC	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.107G>T	7.37:g.149153007C>A	ENSP00000247930:p.Arg36Leu	Somatic	0	15	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	1	87.50	Q8N2R2|Q8N659	Missense_Mutation	SNP	28	0	0	8	74.19	23	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R36L	ENST00000247930.4	37	c.107	CCDS43675.1	7	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363686	0.24684	.	.	ENSG00000196453	ENST00000247930	T	0.04862	3.54	4.6	1.52	0.23074	.	0.648597	0.13762	N	0.364535	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	T	0.40646	-0.9552	10	0.36615	T	0.2	-5.9716	3.3758	0.07237	0.0:0.527:0.2197:0.2533	.	36	Q9ULD5-2	.	L	36	ENSP00000247930:R36L	ENSP00000247930:R36L	R	-	2	0	ZNF777	148783940	0.016000	0.18221	0.265000	0.24526	0.962000	0.63368	0.129000	0.15830	1.025000	0.39708	0.563000	0.77884	CGC	-	NULL		0.547	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	protein_coding	OTTHUMT00000352708.1	C	NM_015694	-		149153007	-1	no_errors	ENST00000247930	ensembl	human	known	74_37	missense	SNP	0.015	A	A	149153007	C	A	149153007	3	1	163	1	0	0	0	0	1	0	0	0	18157	768	27	3	2408	3	ZNF777	7	149153007	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		149153007	9985656	19	11595											
DEFB106A	503841	genome.wustl.edu	37	chr8	7340204	7340204	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagagcaataagttcttcAtttttcccgcaattgttctt	6	9	3	1	rs138253070	byFrequency	TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr8:7340204A>G	ENST00000335479.2	-	2	137	c.120T>C	c.(118-120)aaT>aaC	p.N40N		NM_001040704.1	NP_001035794.1	Q8N104	D106A_HUMAN	defensin, beta 106B	40					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TAAGTTCTTCATTTTTCCCGC	0.413																																																	0								ENSG00000187082						8	11	10					8																	7340204		1657	3516	5173	DEFB106B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34813.1	8p23.1	2011-03-29			ENSG00000187082	ENSG00000187082		"Defensins, beta"	28879	protein-coding gene	gene with protein product							Standard	NM_001040704		Approved			Q8N104	OTTHUMG00000129312	ENST00000335479.2:c.120T>C	8.37:g.7340204A>G		Somatic	0	27	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	Q2NKR0|Q496I8	Silent	SNP	16	5.88	1	19	5.00	1	NULL	p.N40	ENST00000335479.2	37	c.120	CCDS34813.1	8																																																																																			-	NULL		0.413	DEFB106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB106B	protein_coding	OTTHUMT00000251444.1	A		rs138253070		7340204	-1	no_errors	ENST00000335479	ensembl	human	known	74_37	silent	SNP	0.791	G	G	7340204	A	G	7340204	2	3	163	1	0	0	0	0	0	0	0	1	4399	214	8	5		5	DEFB106A	8	7340204	Silent	SNP	A	TCGA-IW-A3M5-01A-22D-A21Q-09		7340204	139023818	20	11596											
ZFHX4	79776	genome.wustl.edu	37	chr8	77766738	77766738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaattccttcactctccGttcttggaaaggcccatgga	7	13	3	0	rs373464374		TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr8:77766738G>A	ENST00000521891.2	+	10	8029	c.7581G>A	c.(7579-7581)ccG>ccA	p.P2527P	ZFHX4_ENST00000050961.6_Silent_p.P2482P|ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482					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)			TTCACTCTCCGTTCTTGGAAA	0.507										HNSCC(33;0.089)																																							0								ENSG00000091656						158	158	158					8																	77766738		2024	4197	6221	ZFHX4	SO:0001819	synonymous_variant	0			-	HGNC		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.7581G>A	8.37:g.77766738G>A		Somatic	0	17	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	G3V138|Q18PS0|Q6ZN20	Silent	SNP	22	0	0	30	41.18	21	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P2527	ENST00000521891.2	37	c.7581	CCDS47878.2	8																																																																																			-	NULL		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	G	NM_024721	-		77766738	1	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	SNP	0.850	A	A	77766738	G	A	77766738	2	1	163	1	0	0	0	0	0	0	0	1	17642	1132	40	1		1	ZFHX4	8	77766738	Silent	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	70426534	77766738	68597284	21	11597											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110477413	110477413	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtattctcacacaccgaaCaaggctggctttcgctggga	10	12	1	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr8:110477413C>G	ENST00000378402.5	+	49	8456	c.8352C>G	c.(8350-8352)aaC>aaG	p.N2784K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2784					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)			ACACACCGAACAAGGCTGGCT	0.413										HNSCC(38;0.096)																																							0								ENSG00000205038						87	90	89					8																	110477413		1953	4134	6087	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.8352C>G	8.37:g.110477413C>G	ENSP00000367655:p.Asn2784Lys	Somatic	0	61	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	52	43.48	Q567P2|Q9UF27	Missense_Mutation	SNP	26	0	0	36	40.00	24	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.N2784K	ENST00000378402.5	37	c.8352	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614294	0.28712	.	.	ENSG00000205038	ENST00000378402	D	0.87334	-2.24	5.82	-0.572	0.11745	.	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.73962	2.25	0.30731	N	0.747204	P	0.41710	0.76	P	0.49597	0.616	D	0.85621	0.1264	10	0.66056	D	0.02	.	9.6703	0.40008	0.0:0.4707:0.0:0.5293	.	2784	Q86WI1	PKHL1_HUMAN	K	2784	ENSP00000367655:N2784K	ENSP00000367655:N2784K	N	+	3	2	PKHD1L1	110546589	1.000000	0.71417	0.720000	0.30636	0.042000	0.13812	1.077000	0.30741	-0.444000	0.07170	-1.028000	0.02416	AAC	-	NULL		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110477413	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	1.000	G	G	110477413	C	G	110477413	3	3	163	1	0	0	0	0	1	0	0	0	11974	477	17	4	8546	4	PKHD1L1	8	110477413	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	32710675	110477413	35886609	22	11598											
FAM83A	84985	genome.wustl.edu	37	chr8	124219460	124219460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttcacaggccaggcggtGgagctgtttgacgaggagtt	16	7	1	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr8:124219460G>A	ENST00000518448.1	+	5	2851	c.837G>A	c.(835-837)gtG>gtA	p.V279V	FAM83A_ENST00000522648.1_Silent_p.V223V|FAM83A_ENST00000536633.1_Silent_p.V279V|FAM83A_ENST00000546351.1_Silent_p.V223V|FAM83A_ENST00000276699.6_Silent_p.V279V|FAM83A_ENST00000318462.6_Silent_p.V279V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	279										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGGCGGTGGAGCTGTTTG	0.647																																																	0								ENSG00000147689						35	29	31					8																	124219460		2202	4300	6502	FAM83A	SO:0001819	synonymous_variant	0			-	HGNC	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.837G>A	8.37:g.124219460G>A		Somatic	0	39	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	66	12.00	Q71HL2|Q8N7I1|Q96I47	Silent	SNP	13	0	0	42	8.70	4	pfam_DUF1669	p.V279	ENST00000518448.1	37	c.837	CCDS6340.1	8																																																																																			-	pfam_DUF1669		0.647	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	protein_coding	OTTHUMT00000381737.1	G	NM_032899	-		124219460	1	no_errors	ENST00000318462	ensembl	human	known	74_37	silent	SNP	0.993	A	A	124219460	G	A	124219460	2	1	163	1	0	0	0	0	0	0	0	1	5635	1335	47	2		2	FAM83A	8	124219460	Silent	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	13742047	124219460	22144562	23	11599											
GDF10	2662	genome.wustl.edu	37	chr10	48429409	48429409	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcccaggggcagcgggcgGcctgaagcgttcttggcccg	19	13	1	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr10:48429409G>T	ENST00000224605.2	-	2	742	c.477C>A	c.(475-477)ggC>ggA	p.G159G		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	159					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCAGCGGGCGGCCTGAAGCGT	0.677																																																	0								ENSG00000107623						17	24	21					10																	48429409		2198	4292	6490	GDF10	SO:0001819	synonymous_variant	0			-	HGNC	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.477C>A	10.37:g.48429409G>T		Somatic	0	12	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	0	100.00	Q5VSQ8|Q9UCX6	Silent	SNP	21	0	0	3	90.00	27	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.G159	ENST00000224605.2	37	c.477	CCDS7220.1	10																																																																																			-	pirsf_BMP3/GDF10		0.677	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	protein_coding	OTTHUMT00000047884.1	G	NM_004962	-		48429409	-1	no_errors	ENST00000224605	ensembl	human	known	74_37	silent	SNP	0.987	T	T	48429409	G	T	48429409	2	4	163	1	0	0	0	0	0	0	0	1	6313	1190	42	3		3	GDF10	10	48429409	Silent	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09		48429409	87105338	24	11600											
COL13A1	1305	genome.wustl.edu	37	chr10	71654434	71654434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgtctctttgtagggaCcccagggacaaaaaggagaa	11	10	2	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr10:71654434C>T	ENST00000398978.3	+	11	1099	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	COL13A1_ENST00000517713.1_Missense_Mutation_p.P203S|COL13A1_ENST00000398964.3_Missense_Mutation_p.P174S|COL13A1_ENST00000398974.3_Missense_Mutation_p.P191S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P203S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P203S|COL13A1_ENST00000398973.3_Missense_Mutation_p.P203S|COL13A1_ENST00000398971.3_Missense_Mutation_p.P203S|COL13A1_ENST00000520267.1_Missense_Mutation_p.P165S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P203S|COL13A1_ENST00000356340.3_Missense_Mutation_p.P203S|COL13A1_ENST00000398969.3_Missense_Mutation_p.P165S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P203S|COL13A1_ENST00000357811.3_Missense_Mutation_p.P203S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P203S|COL13A1_ENST00000520133.1_Missense_Mutation_p.P174S	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						TTTGTAGGGACCCCAGGGACA	0.493																																																	0								ENSG00000197467						107	114	112					10																	71654434		1871	4107	5978	COL13A1	SO:0001583	missense	0			-	HGNC	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.607C>T	10.37:g.71654434C>T	ENSP00000381949:p.Pro203Ser	Somatic	0	71	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	78	10.23		Missense_Mutation	SNP	39	0	0	35	7.89	3	pfam_Collagen	p.P203S	ENST00000398978.3	37	c.607	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631661	0.46944	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;T;D;D;D;D;D;D;D;D;D;D;D	0.94828	-3.43;-3.43;-3.17;-3.17;1.02;-3.53;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.53;-3.43;-3.43;-3.53	5.27	5.27	0.74061	.	0.176526	0.41194	D	0.000934	D	0.95661	0.8589	M	0.67700	2.07	0.36908	D	0.890763	B;D;D;B;D;B;B;B;D;B;B;B;B;D;D;B;B;B;D	0.76494	0.021;0.997;0.998;0.23;0.997;0.271;0.149;0.271;0.997;0.271;0.271;0.23;0.23;0.999;0.996;0.123;0.123;0.271;0.996	B;D;D;B;D;B;B;B;D;B;B;B;B;D;D;B;B;B;D	0.87578	0.013;0.995;0.994;0.077;0.995;0.126;0.034;0.126;0.995;0.126;0.126;0.045;0.077;0.998;0.991;0.034;0.034;0.126;0.991	D	0.93665	0.6985	10	0.08599	T	0.76	-3.2368	11.8247	0.52261	0.1749:0.8251:0.0:0.0	.	165;203;203;203;203;203;203;203;191;203;174;203;203;212;203;203;203;174;203	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	191;203;203;203;174;165;203;203;203;203;203;203;165;203;203;174	ENSP00000381946:P191S;ENSP00000381943:P203S;ENSP00000381940:P203S;ENSP00000381938:P203S;ENSP00000381936:P174S;ENSP00000381941:P165S;ENSP00000348695:P203S;ENSP00000381944:P203S;ENSP00000381945:P203S;ENSP00000381949:P203S;ENSP00000346553:P203S;ENSP00000350463:P203S;ENSP00000428057:P165S;ENSP00000430061:P203S;ENSP00000428342:P203S;ENSP00000430173:P174S	ENSP00000346553:P203S	P	+	1	0	COL13A1	71324440	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.707000	0.47143	2.627000	0.88993	0.650000	0.86243	CCC	-	pfam_Collagen		0.493	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	protein_coding	OTTHUMT00000048468.1	C	NM_005203	-		71654434	1	no_errors	ENST00000356340	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71654434	C	T	71654434	3	4	163	1	0	0	0	0	1	0	0	0	3672	507	18	2	649	2	COL13A1	10	71654434	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	23225025	71654434	63880313	25	11601											
MYST4	23522	genome.wustl.edu	37	chr10	76735646	76735646	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcacggccacttcttctccCtctccccagagttcttccag	6	18	4	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr10:76735646C>G	ENST00000287239.4	+	8	2040	c.1551C>G	c.(1549-1551)ccC>ccG	p.P517P	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	517	Negatively regulates HAT activity.|Ser-rich.				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)										CTTCTTCTCCCTCTCCCCAGA	0.547																																																	0								ENSG00000156650						71	69	70					10																	76735646		2203	4300	6503	KAT6B	SO:0001819	synonymous_variant	0			-	HGNC	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.1551C>G	10.37:g.76735646C>G		Somatic	0	71	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	25	67.95	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	36	0	0	12	73.33	33	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P517	ENST00000287239.4	37	c.1551	CCDS7345.1	10																																																																																			-	NULL		0.547	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	protein_coding	OTTHUMT00000048771.1	C	NM_012330	-		76735646	1	no_errors	ENST00000287239	ensembl	human	known	74_37	silent	SNP	1.000	G	G	76735646	C	G	76735646	2	3	163	1	0	0	0	0	0	0	0	1	10107	668	24	4		4	MYST4	10	76735646	Silent	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	5081212	76735646	58799101	26	11602											
NAV2	89797	genome.wustl.edu	37	chr11	20119223	20119224	+	Frame_Shift_Del	DEL	AA	AA	-													caagcgcagcaacacttccgAaacaccggagctgcttcctt							TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr11:20119223_20119224delAA	ENST00000396087.3	+	34	6389_6390	c.6290_6291delAA	c.(6289-6291)gaafs	p.E2097fs	NAV2_ENST00000311043.8_Frame_Shift_Del_p.E1102fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.E2028fs|NAV2_ENST00000396085.1_Frame_Shift_Del_p.E2041fs|NAV2_ENST00000349880.4_Frame_Shift_Del_p.E2038fs|NAV2_ENST00000533917.1_Frame_Shift_Del_p.E1102fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.E2026fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.E1974fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2097					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						AACACTTCCGAAACACCGGAGC	0.49																																																	0								ENSG00000166833																																			NAV2	SO:0001589	frameshift_variant	0				HGNC	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.6290_6291delAA	11.37:g.20119223_20119224delAA	ENSP00000379396:p.Glu2097fs	Somatic	0	103	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	100	17.36	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Del	DEL	41	0	0	38	20.83	10	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E2097fs	ENST00000396087.3	37	c.6290_6291	CCDS58126.1	11																																																																																			-	NULL		0.49	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	AA	NM_145117			20119224	1	no_errors	ENST00000396087	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	20119224	AA	-	20119223	7	5	163	1	0	1	0	1	0	0	0	0	10186	246	9	0	6353	0	NAV2	11	20119223	Frame_Shift_Del	DEL	AA	TCGA-IW-A3M5-01A-22D-A21Q-09		20119223	114887293	27	11603											
INTS4	92105	genome.wustl.edu	37	chr11	77629981	77629981	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggatcctcttgaggtatgAtgctgggagaaacagctgat	13	6	1	4			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr11:77629981A>T	ENST00000534064.1	-	15	1842	c.1808T>A	c.(1807-1809)aTc>aAc	p.I603N		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	603					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTGAGGTATGATGCTGGGAGA	0.498																																																	0								ENSG00000149262						97	96	97					11																	77629981		2200	4292	6492	INTS4	SO:0001583	missense	0			-	HGNC	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1808T>A	11.37:g.77629981A>T	ENSP00000434466:p.Ile603Asn	Somatic	0	106	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	69	19.77	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	35	0	0	27	27.03	10	pfam_HEAT,superfamily_ARM-type_fold	p.I603N	ENST00000534064.1	37	c.1808	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	A	4.779	0.144815	0.09134	.	.	ENSG00000149262	ENST00000534064;ENST00000354849	.	.	.	4.45	4.45	0.53987	.	0.492058	0.21689	N	0.070602	T	0.22898	0.0553	N	0.14661	0.345	0.22880	N	0.998614	B	0.19583	0.037	B	0.18871	0.023	T	0.13926	-1.0491	9	0.16896	T	0.51	-5.3162	8.5872	0.33666	0.9141:0.0:0.0859:0.0	.	603	Q96HW7	INT4_HUMAN	N	603;454	.	ENSP00000346913:I454N	I	-	2	0	INTS4	77307629	0.841000	0.29509	0.089000	0.20774	0.680000	0.39746	3.775000	0.55349	1.879000	0.54435	0.528000	0.53228	ATC	-	NULL		0.498	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	protein_coding	OTTHUMT00000390927.1	A	NM_033547	-		77629981	-1	no_errors	ENST00000534064	ensembl	human	known	74_37	missense	SNP	0.065	T	T	77629981	A	T	77629981	3	4	163	1	0	0	0	0	1	0	0	0	7782	333	12	5	1119	5	INTS4	11	77629981	Missense_Mutation	SNP	A	TCGA-IW-A3M5-01A-22D-A21Q-09	57510758	77629981	57376535	28	11604											
OR8G5	219865	genome.wustl.edu	37	chr11	124135362	124135362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatcaaccattatttcTgtgatcttatttctatcttg	5	7	5	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr11:124135362T>G	ENST00000524943.2	+	1	640	c.640T>G	c.(640-642)Tgt>Ggt	p.C214G	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CCATTATTTCTGTGATCTTAT	0.358																																					Ovarian(169;523 1969 8640 31295 51256)												0								ENSG00000255298						235	226	229					11																	124135362		1874	4138	6012	OR8G5	SO:0001583	missense	0			-	HGNC	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.640T>G	11.37:g.124135362T>G	ENSP00000477014:p.Cys214Gly	Somatic	0	71	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	8	84.91	B2RND3|Q6IEU6	Missense_Mutation	SNP	38	0	0	1	97.14	34	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C214G	ENST00000524943.2	37	c.640		11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.358	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	OR8G5	protein_coding	OTTHUMT00000387283.2	T	NM_001005198	-		124135362	1	no_errors	ENST00000524943	ensembl	human	known	74_37	missense	SNP	1.000	G	G	124135362	T	G	124135362	3	3	163	1	0	0	0	0	1	0	0	0	11238	1580	55	5	642	5	OR8G5	11	124135362	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09	46505381	124135362	10871154	29	11605											
KRAS	3845	genome.wustl.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr12:25380275T>A	ENST00000256078.4	-	3	246	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	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)			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)						ENSG00000133703						109	98	102					12																	25380275		2203	4300	6503	KRAS	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	-	HGNC	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	Somatic	0	31	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	21	61.82	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	33	0	0	16	85.83	103	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	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	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	T	NM_033360	rs17851045		25380275	-1	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25380275	T	A	25380275	3	1	163	1	0	0	0	0	1	0	0	0	8440	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09		25380275	108471620	30	11606											
KCNC2	3747	genome.wustl.edu	37	chr12	75444697	75444697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagacctacaaaatggCgggtgagcttgaaaattctc	9	11	2	3	rs550561919		TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr12:75444697C>T	ENST00000549446.1	-	3	1768	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	KCNC2_ENST00000350228.2_Missense_Mutation_p.R363H|KCNC2_ENST00000550433.1_Missense_Mutation_p.R363H|KCNC2_ENST00000540018.1_Missense_Mutation_p.R363H|KCNC2_ENST00000341669.3_Missense_Mutation_p.R363H|KCNC2_ENST00000393288.2_Missense_Mutation_p.R363H|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.R363H|KCNC2_ENST00000548513.1_Missense_Mutation_p.R363H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	363					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TACAAAATGGCGGGTGAGCTT	0.453													C|||	1	0.000199681	0	0	5008	,	,		19106	0.001		0	False		,,,				2504	0																0								ENSG00000166006						51	46	48					12																	75444697		2203	4300	6503	KCNC2	SO:0001583	missense	0			-	HGNC	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1088G>A	12.37:g.75444697C>T	ENSP00000449253:p.Arg363His	Somatic	0	17	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	28	0	0	31	38.00	19	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R363H	ENST00000549446.1	37	c.1088	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637692	0.87760	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99102	0.9691	M	0.84585	2.705	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	0.997;0.997;1.0;0.996;0.999	D	0.99593	1.0976	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	363;363;363;363;363	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	H	363	ENSP00000448301:R363H;ENSP00000449941:R363H;ENSP00000449253:R363H;ENSP00000340121:R363H;ENSP00000298972:R363H;ENSP00000319877:R363H;ENSP00000438423:R363H;ENSP00000376966:R363H	ENSP00000298972:R363H	R	-	2	0	KCNC2	73730964	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	CGC	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	protein_coding	OTTHUMT00000405581.2	C	NM_153748	-		75444697	-1	no_errors	ENST00000549446	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75444697	C	T	75444697	3	4	163	1	0	0	0	0	1	0	0	0	8017	768	27	1	906	1	KCNC2	12	75444697	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	50064422	75444697	58407198	31	11607											
IQCD	115811	genome.wustl.edu	37	chr12	113645821	113645821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaggatggacatgatccTtttggcctcaatggtggtga	12	8	1	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr12:113645821T>C	ENST00000416617.2	-	2	341	c.151A>G	c.(151-153)Agg>Ggg	p.R51G	IQCD_ENST00000546692.1_Missense_Mutation_p.R51G|IQCD_ENST00000299732.2_Missense_Mutation_p.R51G			Q96DY2	IQCD_HUMAN	IQ motif containing D	51										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GACATGATCCTTTTGGCCTCA	0.512																																																	0								ENSG00000166578						337	306	317					12																	113645821		2203	4300	6503	IQCD	SO:0001583	missense	0			-	HGNC	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.151A>G	12.37:g.113645821T>C	ENSP00000400669:p.Arg51Gly	Somatic	0	136	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	225	20.21	Q6ZSU0	Missense_Mutation	SNP	29	0	0	54	32.50	26	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R51G	ENST00000416617.2	37	c.151		12	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536398	0.65085	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.10382	2.88;2.88;2.88	4.58	3.4	0.38934	.	0.220091	0.38548	N	0.001650	T	0.30166	0.0756	M	0.76328	2.33	0.36600	D	0.87458	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.976	T	0.26780	-1.0093	10	0.87932	D	0	-37.6166	10.344	0.43895	0.0:0.0:0.1656:0.8344	.	51;51	F8VZV9;Q96DY2-2	.;.	G	51	ENSP00000299732:R51G;ENSP00000400669:R51G;ENSP00000446623:R51G	ENSP00000299732:R51G	R	-	1	2	IQCD	112130204	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.647000	0.46639	0.760000	0.33108	0.460000	0.39030	AGG	-	NULL		0.512	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	protein_coding	OTTHUMT00000405327.1	T	NM_138451	-		113645821	-1	no_errors	ENST00000416617	ensembl	human	known	74_37	missense	SNP	1.000	C	C	113645821	T	C	113645821	3	2	163	1	0	0	0	0	1	0	0	0	7807	1608	56	5	900	5	IQCD	12	113645821	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09	38201124	113645821	20206074	32	11608											
CCDC62	84660	genome.wustl.edu	37	chr12	123286397	123286397	+	Frame_Shift_Del	DEL	A	A	-													acacaacatgactccccggcAaggtgagtaacgttcacatc							TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr12:123286397delA	ENST00000253079.6	+	9	2048	c.1704delA	c.(1702-1704)gcafs	p.A568fs	CCDC62_ENST00000537566.1_Frame_Shift_Del_p.A329fs|CCDC62_ENST00000392441.4_Frame_Shift_Del_p.A568fs|CCDC62_ENST00000392440.2_Frame_Shift_Del_p.A329fs	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	568					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTCCCCGGCAAGGTGAGTAA	0.468																																																	0								ENSG00000130783						180	188	185					12																	123286397		2201	4300	6501	CCDC62	SO:0001589	frameshift_variant	0				HGNC		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1704delA	12.37:g.123286397delA	ENSP00000253079:p.Ala568fs	Somatic	0	52	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Frame_Shift_Del	DEL	32	0	0	41	6.82	3	superfamily_Prefoldin	p.S569fs	ENST00000253079.6	37	c.1704	CCDS9238.1	12																																																																																			-	NULL		0.468	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	protein_coding	OTTHUMT00000400930.1	A	NM_032573			123286397	1	no_errors	ENST00000253079	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	123286397	A	-	123286397	7	5	163	1	0	1	0	1	0	0	0	0	2835	117	5	0	1738	0	CCDC62	12	123286397	Frame_Shift_Del	DEL	A	TCGA-IW-A3M5-01A-22D-A21Q-09	9640576	123286397	10565498	33	11609											
DCLK1	9201	genome.wustl.edu	37	chr13	36445375	36445375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttacctgagctggtggagGcaggggacttgctacgcctg	15	10	0	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr13:36445375G>T	ENST00000360631.3	-	5	1137	c.926C>A	c.(925-927)gCc>gAc	p.A309D	DCLK1_ENST00000379892.4_Missense_Mutation_p.A309D|DCLK1_ENST00000255448.4_Missense_Mutation_p.A309D			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	309	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)			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)		GCTGGTGGAGGCAGGGGACTT	0.532																																																	0								ENSG00000133083						180	170	173					13																	36445375		2203	4300	6503	DCLK1	SO:0001583	missense	0			-	HGNC	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.926C>A	13.37:g.36445375G>T	ENSP00000353846:p.Ala309Asp	Somatic	0	54	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	33	0	0	28	31.71	13	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.A309D	ENST00000360631.3	37	c.926		13	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987624	0.53934	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.68903	-0.36;-0.35;1.77	5.43	5.43	0.79202	.	0.127130	0.52532	D	0.000079	T	0.64659	0.2618	L	0.57536	1.79	0.48901	D	0.999725	B	0.17038	0.02	B	0.17979	0.02	T	0.59637	-0.7417	10	0.17832	T	0.49	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	309	O15075-2	.	D	309	ENSP00000255448:A309D;ENSP00000353846:A309D;ENSP00000369222:A309D	ENSP00000255448:A309D	A	-	2	0	DCLK1	35343375	1.000000	0.71417	0.910000	0.35882	0.992000	0.81027	6.879000	0.75572	2.698000	0.92095	0.655000	0.94253	GCC	-	NULL		0.532	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	protein_coding	OTTHUMT00000044487.1	G	NM_004734	-		36445375	-1	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	SNP	0.998	T	T	36445375	G	T	36445375	3	4	163	1	0	0	0	0	1	0	0	0	4293	1203	42	3	1319	3	DCLK1	13	36445375	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09		36445375	78724503	34	11610											
MAP3K9	4293	genome.wustl.edu	37	chr14	71199867	71199867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgggcaccgccccgcTtgaggctgttggttggcgtc	18	11	0	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr14:71199867T>C	ENST00000554752.2	-	11	2218	c.2219A>G	c.(2218-2220)aAg>aGg	p.K740R	MAP3K9_ENST00000555993.2_Missense_Mutation_p.K754R|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K717R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K468R|MAP3K9_ENST00000553414.1_Missense_Mutation_p.K473R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	740					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACCGCCCCGCTTGAGGCTGTT	0.657																																					GBM(114;411 1587 13539 28235 50070)												0								ENSG00000006432						40	45	43					14																	71199867		2203	4300	6503	MAP3K9	SO:0001583	missense	0			-	HGNC	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2219A>G	14.37:g.71199867T>C	ENSP00000451612:p.Lys740Arg	Somatic	0	20	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	21	0	0	33	48.44	31	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.K754R	ENST00000554752.2	37	c.2261		14	.	.	.	.	.	.	.	.	.	.	T	11.80	1.747409	0.30955	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	4.77	4.77	0.60923	.	0.137931	0.56097	D	0.000028	T	0.25754	0.0627	L	0.28115	0.83	0.30206	N	0.798196	P;B;B;B	0.39071	0.658;0.003;0.084;0.313	B;B;B;B	0.38954	0.286;0.017;0.103;0.174	T	0.09037	-1.0693	10	0.10902	T	0.67	.	14.4699	0.67509	0.0:0.0:0.0:1.0	.	468;740;754;473	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	R	740;754;473;717;468;456	ENSP00000451612:K740R;ENSP00000451038:K473R;ENSP00000370649:K717R;ENSP00000451921:K468R	ENSP00000005198:K754R	K	-	2	0	MAP3K9	70269620	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.927000	0.56499	2.007000	0.58848	0.459000	0.35465	AAG	-	pirsf_MAPKKK9/10/11		0.657	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	protein_coding	OTTHUMT00000412550.2	T		-		71199867	-1	no_errors	ENST00000555993	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71199867	T	C	71199867	3	2	163	1	0	0	0	0	1	0	0	0	9259	1609	56	5	1103	5	MAP3K9	14	71199867	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09		71199867	36149673	35	11611											
ITPK1	3705	genome.wustl.edu	37	chr14	93483134	93483134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctcctcgatcggccGgctaaggttcagctgtgagg	14	13	1	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr14:93483134G>A	ENST00000267615.6	-	4	306	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	ITPK1_ENST00000354313.3_Missense_Mutation_p.R45W|ITPK1_ENST00000556603.2_Missense_Mutation_p.R45W|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	45					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCGATCGGCCGGCTAAGGTTC	0.577																																																	0								ENSG00000100605						90	76	81					14																	93483134		2203	4300	6503	ITPK1	SO:0001583	missense	0			-	HGNC	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.133C>T	14.37:g.93483134G>A	ENSP00000267615:p.Arg45Trp	Somatic	0	24	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	Q9BTL6|Q9H2E7	Missense_Mutation	SNP	18	0	0	29	53.23	33	pfam_Inositol_tetrakis-P_1-kinase	p.R45W	ENST00000267615.6	37	c.133	CCDS9907.1	14	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397604	0.62177	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.25	3.21	0.36854	.	0.181065	0.47852	D	0.000214	T	0.56455	0.1986	L	0.61036	1.89	0.36118	D	0.845293	D;D	0.76494	0.999;0.993	P;B	0.50192	0.634;0.287	T	0.69003	-0.5260	9	0.66056	D	0.02	-15.8496	11.5472	0.50700	0.0:0.0:0.4156:0.5844	.	45;45	Q13572;Q13572-2	ITPK1_HUMAN;.	W	45;75;45;45;45;63;45;45;45	.	ENSP00000267615:R45W	R	-	1	2	ITPK1	92552887	1.000000	0.71417	0.990000	0.47175	0.639000	0.38242	3.542000	0.53625	1.174000	0.42811	0.561000	0.74099	CGG	-	pfam_Inositol_tetrakis-P_1-kinase		0.577	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	protein_coding	OTTHUMT00000412421.2	G	NM_014216	-		93483134	-1	no_errors	ENST00000267615	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93483134	G	A	93483134	3	1	163	1	0	0	0	0	1	0	0	0	7918	1115	39	1	1191	1	ITPK1	14	93483134	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	22283267	93483134	13866406	36	11612											
PRTG	283659	genome.wustl.edu	37	chr15	55976085	55976085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcgagcaactccaccttCgtggacctcagtggaaattg	9	11	1	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr15:55976085C>T	ENST00000389286.4	-	3	489	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTCCACCTTCGTGGACCTCA	0.413																																																	0								ENSG00000166450						90	88	89					15																	55976085		1872	4105	5977	PRTG	SO:0001583	missense	0			-	HGNC	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.442G>A	15.37:g.55976085C>T	ENSP00000373937:p.Glu148Lys	Somatic	0	29	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54		Missense_Mutation	SNP	32	0	0	33	0.00	0	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E148K	ENST00000389286.4	37	c.442	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290786	0.80914	.	.	ENSG00000166450	ENST00000389286	T	0.79845	-1.31	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.068857	0.56097	U	0.000031	T	0.79305	0.4423	M	0.74647	2.275	0.80722	D	1	D	0.55172	0.97	B	0.42959	0.403	T	0.77797	-0.2453	10	0.07813	T	0.8	-12.0999	16.8992	0.86109	0.0:1.0:0.0:0.0	.	148	Q2VWP7	PRTG_HUMAN	K	148	ENSP00000373937:E148K	ENSP00000373937:E148K	E	-	1	0	PRTG	53763377	1.000000	0.71417	0.958000	0.39756	0.939000	0.58152	4.613000	0.61176	2.649000	0.89929	0.557000	0.71058	GAA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.413	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	protein_coding	OTTHUMT00000419357.1	C	NM_173814	-		55976085	-1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	SNP	0.996	T	T	55976085	C	T	55976085	3	4	163	1	0	0	0	0	1	0	0	0	12643	893	31	1	3082	1	PRTG	15	55976085	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		55976085	46555307	37	11613											
CHD2	1106	genome.wustl.edu	37	chr15	93482893	93482893	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcttctgatgaggatgatGatgatgacgaagctcccaaa	10	7	2	6			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr15:93482893G>C	ENST00000394196.4	+	7	1705	c.637G>C	c.(637-639)Gat>Cat	p.D213H	CHD2_ENST00000420239.2_Missense_Mutation_p.D213H|CHD2_ENST00000557381.1_Missense_Mutation_p.D213H|CHD2_ENST00000536619.1_Missense_Mutation_p.D226H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	213					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.D213N(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGAGGATGATGATGATGACGA	0.443																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000173575						128	120	122					15																	93482893		2197	4298	6495	CHD2	SO:0001583	missense	0			-	HGNC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.637G>C	15.37:g.93482893G>C	ENSP00000377747:p.Asp213His	Somatic	0	82	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	25	75.25	C6G482|Q96IP5	Missense_Mutation	SNP	39	0	0	12	72.73	32	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.D213H	ENST00000394196.4	37	c.637	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274104	0.59649	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.90620	-2.7;-2.68;0.72;0.7	5.11	5.11	0.69529	.	0.476005	0.15038	U	0.284034	D	0.89649	0.6776	L	0.46157	1.445	0.80722	D	1	P;B;P;P	0.44578	0.838;0.265;0.693;0.708	B;B;B;B	0.42798	0.364;0.224;0.398;0.351	D	0.90114	0.4194	10	0.56958	D	0.05	-18.3339	18.724	0.91705	0.0:0.0:1.0:0.0	.	226;213;213;213	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	H	213;213;213;226	ENSP00000377747:D213H;ENSP00000451366:D213H;ENSP00000406581:D213H;ENSP00000443618:D226H	ENSP00000377747:D213H	D	+	1	0	CHD2	91283897	1.000000	0.71417	0.998000	0.56505	0.595000	0.36748	8.738000	0.91569	2.664000	0.90586	0.563000	0.77884	GAT	-	NULL		0.443	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	G	NM_001271	-		93482893	1	no_errors	ENST00000420239	ensembl	human	known	74_37	missense	SNP	1.000	C	C	93482893	G	C	93482893	3	2	163	1	0	0	0	0	1	0	0	0	3327	1290	45	4	659	4	CHD2	15	93482893	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	37506808	93482893	9048499	38	11614											
ABCC11	85320	genome.wustl.edu	37	chr16	48234247	48234247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcttcttaatgcactcCtcaaaaatgtgcttccccac	5	13	3	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr16:48234247C>T	ENST00000394747.1	-	14	2371	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	ABCC11_ENST00000353782.5_Silent_p.E674E|ABCC11_ENST00000537808.1_Silent_p.E674E|ABCC11_ENST00000394748.1_Silent_p.E674E|ABCC11_ENST00000356608.2_Silent_p.E674E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	674	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TAATGCACTCCTCAAAAATGT	0.592																																																	0								ENSG00000121270						116	99	105					16																	48234247		2201	4300	6501	ABCC11	SO:0001819	synonymous_variant	0			-	HGNC	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.2022G>A	16.37:g.48234247C>T		Somatic	0	77	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	70	12.50	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	35	0	0	45	16.67	9	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E674	ENST00000394747.1	37	c.2022	CCDS10732.1	16																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	protein_coding	OTTHUMT00000429984.1	C	NM_032583	-		48234247	-1	no_errors	ENST00000356608	ensembl	human	known	74_37	silent	SNP	0.959	T	T	48234247	C	T	48234247	2	4	163	1	0	0	0	0	0	0	0	1	51	680	24	2		2	ABCC11	16	48234247	Silent	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		48234247	42120506	39	11615											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76509936	76509936	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttacagaggagctacttgcCataactgtaagcggaacaca	10	9	0	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr16:76509936C>G	ENST00000476707.1	+	10	1904	c.1765C>G	c.(1765-1767)Cat>Gat	p.H589D	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H537D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.H585D|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H513D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	586	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						AGCTACTTGCCATAACTGTAA	0.458																																																	0								ENSG00000152910						117	103	107					16																	76509936		2198	4300	6498	CNTNAP4	SO:0001583	missense	0			-	HGNC	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.1765C>G	16.37:g.76509936C>G	ENSP00000417628:p.His589Asp	Somatic	0	37	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	28	0	0	34	17.07	7	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.H585D	ENST00000476707.1	37	c.1753		16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681822	0.88542	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.32	5.32	0.75619	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41396	D	0.000894	T	0.41949	0.1181	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;D;D;D	0.91635	0.994;0.963;0.994;0.999	T	0.29488	-1.0010	9	0.87932	D	0	.	19.1982	0.93698	0.0:1.0:0.0:0.0	.	513;589;561;586	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	D	585;537;513;589	ENSP00000306893:H585D;ENSP00000439733:H537D;ENSP00000418741:H513D;ENSP00000417628:H589D	ENSP00000306893:H585D	H	+	1	0	CNTNAP4	75067437	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.497000	0.81536	2.773000	0.95371	0.655000	0.94253	CAT	-	superfamily_Fibrinogen_a/b/g_C_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	C	NM_033401	-		76509936	1	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76509936	C	G	76509936	3	3	163	1	0	0	0	0	1	0	0	0	3651	594	21	4	1811	4	CNTNAP4	16	76509936	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	28275689	76509936	13844817	40	11616											
TP53	7157	genome.wustl.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	4	12	2	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)						ENSG00000141510						136	121	126					17																	7578235		2203	4300	6503	TP53	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;	-	HGNC	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.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	Somatic	0	58	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	12	76.00	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	16	0	0	3	90.62	29	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y205C	ENST00000269305.4	37	c.614	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	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	0.88906	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	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578235	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.989	C	C	7578235	T	C	7578235	3	2	163	1	0	0	0	0	1	0	0	0	16388	1406	49	5	680	5	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-IW-A3M5-01A-22D-A21Q-09		7578235	73616975	41	11617											
AXIN2	8313	genome.wustl.edu	37	chr17	63533137	63533137	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagggccaggcccggctccGtgcctttcccattgcgtttg	13	15	0	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr17:63533137G>C	ENST00000307078.5	-	7	2070	c.1757C>G	c.(1756-1758)aCg>aGg	p.T586R	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	586				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGGCTCCGTGCCTTTCCC	0.672									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0								ENSG00000168646						21	22	22					17																	63533137		2202	4297	6499	AXIN2	SO:0001583	missense	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	-	HGNC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000307078.5:c.1757C>G	17.37:g.63533137G>C	ENSP00000302625:p.Thr586Arg	Somatic	0	8	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	30	0	0	23	58.93	33	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.T586R	ENST00000307078.5	37	c.1757	CCDS11662.1	17	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232073	0.39399	.	.	ENSG00000168646	ENST00000307078	T	0.65916	-0.18	4.84	3.84	0.44239	.	1.123640	0.06478	N	0.732279	T	0.51839	0.1698	N	0.19112	0.55	0.32510	N	0.537702	B	0.30281	0.275	B	0.35727	0.209	T	0.52071	-0.8624	10	0.32370	T	0.25	-4.923	9.8547	0.41079	0.1791:0.0:0.8209:0.0	.	586	Q9Y2T1	AXIN2_HUMAN	R	586	ENSP00000302625:T586R	ENSP00000302625:T586R	T	-	2	0	AXIN2	60963599	0.000000	0.05858	0.106000	0.21319	0.997000	0.91878	0.125000	0.15749	0.953000	0.37825	0.462000	0.41574	ACG	-	NULL		0.672	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AXIN2	protein_coding	OTTHUMT00000445900.1	G	NM_004655	-		63533137	-1	no_errors	ENST00000307078	ensembl	human	known	74_37	missense	SNP	0.043	C	C	63533137	G	C	63533137	3	2	163	1	0	0	0	0	1	0	0	0	1237	1145	40	4	794	4	AXIN2	17	63533137	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	55954902	63533137	17662073	42	11618											
ANKRD12	23253	genome.wustl.edu	37	chr18	9255635	9255635	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatttacttctttgggtatGagtgccattgaggaatctat	10	5	2	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr18:9255635G>T	ENST00000262126.4	+	9	2610	c.2370G>T	c.(2368-2370)atG>atT	p.M790I	ANKRD12_ENST00000400020.3_Missense_Mutation_p.M767I|ANKRD12_ENST00000383440.2_Missense_Mutation_p.M767I	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	790						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						CTTTGGGTATGAGTGCCATTG	0.328																																																	0								ENSG00000101745						77	82	80					18																	9255635		2199	4297	6496	ANKRD12	SO:0001583	missense	0			-	HGNC	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.2370G>T	18.37:g.9255635G>T	ENSP00000262126:p.Met790Ile	Somatic	0	13	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	35	0	0	19	54.76	23	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M790I	ENST00000262126.4	37	c.2370	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.202729	0.00296	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000400020	T;T	0.62105	0.05;0.05	5.22	-3.01	0.05463	.	1.695100	0.02653	N	0.106664	T	0.25158	0.0611	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	0.08743	-1.0707	10	0.35671	T	0.21	-24.9841	0.3235	0.00307	0.358:0.2277:0.2033:0.2111	.	417;767;790	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	I	767;790;61	ENSP00000372932:M767I;ENSP00000262126:M790I	ENSP00000262126:M790I	M	+	3	0	ANKRD12	9245635	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.044000	0.13992	-0.460000	0.07003	-0.384000	0.06662	ATG	-	NULL		0.328	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	G	NM_015208	-		9255635	1	no_errors	ENST00000262126	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9255635	G	T	9255635	3	4	163	1	0	0	0	0	1	0	0	0	640	1290	45	3	2400	3	ANKRD12	18	9255635	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09		9255635	68821613	43	11619											
MADCAM1	8174	genome.wustl.edu	37	chr19	501786	501786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccgacaccacctcccCggagcctcccgacaagacct	7	22	0	1	rs77264553	byFrequency	TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr19:501786C>A	ENST00000215637.3	+	4	831	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P43Q|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	262	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		ACCACCTCCCCGGAGCCTCCC	0.726																																																	0								ENSG00000099866						21	23	22					19																	501786		2174	4254	6428	MADCAM1	SO:0001583	missense	0			-	HGNC	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.785C>A	19.37:g.501786C>A	ENSP00000215637:p.Pro262Gln	Somatic	0	16	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	14	33.33	7	17	41.38	12	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.P262Q	ENST00000215637.3	37	c.785	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	c	9.375	1.071453	0.20147	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.12147	2.71	3.07	-3.57	0.04612	.	3.584140	0.00988	N	0.003486	T	0.04907	0.0132	N	0.03608	-0.345	0.80722	P	0.0	B	0.33073	0.396	B	0.12837	0.008	T	0.24584	-1.0156	9	0.72032	D	0.01	.	3.8366	0.08897	0.3193:0.4698:0.0:0.2109	.	262	Q13477	MADCA_HUMAN	Q	286;278;270;262	ENSP00000215637:P262Q	ENSP00000215637:P262Q	P	+	2	0	MADCAM1	452786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.633000	0.05545	-0.962000	0.02626	CCG	-	NULL		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	protein_coding	OTTHUMT00000451884.1	C	NM_130760	rs77264553		501786	1	no_errors	ENST00000215637	ensembl	human	known	74_37	missense	SNP	0.000	A	A	501786	C	A	501786	3	1	163	1	0	0	0	0	1	0	0	0	9153	652	23	3	799	3	MADCAM1	19	501786	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		501786	58627197	44	11620											
ILVBL	10994	genome.wustl.edu	37	chr19	15235791	15235791	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagcggcgcccagcaaggcgGccaccagcgtcccgcaggcc	15	18	0	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr19:15235791G>C	ENST00000263383.3	-	2	219	c.80C>G	c.(79-81)gCc>gGc	p.A27G	ILVBL_ENST00000531635.1_Intron|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Intron	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	27						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CAGCAAGGCGGCCACCAGCGT	0.677																																																	0								ENSG00000105135						9	10	10					19																	15235791		2175	4268	6443	ILVBL	SO:0001583	missense	0			-	HGNC	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.80C>G	19.37:g.15235791G>C	ENSP00000263383:p.Ala27Gly	Somatic	0	33	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	23	0	0	27	47.06	24	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.A27G	ENST00000263383.3	37	c.80	CCDS12325.1	19	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494325	0.44352	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.32023	1.47	4.32	2.21	0.28008	.	0.442645	0.24363	N	0.039161	T	0.14013	0.0339	N	0.08118	0	0.26664	N	0.971866	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	10	0.31617	T	0.26	-3.9097	8.2998	0.32008	0.1954:0.0:0.8046:0.0	.	27	A1L0T0	ILVBL_HUMAN	G	27	ENSP00000263383:A27G	ENSP00000263383:A27G	A	-	2	0	ILVBL	15096791	0.002000	0.14202	0.780000	0.31762	0.944000	0.59088	1.148000	0.31614	0.481000	0.27557	0.561000	0.74099	GCC	-	NULL		0.677	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	protein_coding	OTTHUMT00000385439.1	G	NM_006844	-		15235791	-1	no_errors	ENST00000263383	ensembl	human	known	74_37	missense	SNP	0.746	C	C	15235791	G	C	15235791	3	2	163	1	0	0	0	0	1	0	0	0	7717	1203	42	4	1878	4	ILVBL	19	15235791	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	14734005	15235791	43893192	45	11621											
PLEKHA4	57664	genome.wustl.edu	37	chr19	49362197	49362197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagggaggtcctcggcGgggagtagggggtcgggaga	22	7	1	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr19:49362197G>A	ENST00000263265.6	-	8	1447	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R298C	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	298	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGTCCTCGGCGGGGAGTAGGG	0.662																																																	0								ENSG00000105559						40	46	44					19																	49362197		2182	4255	6437	PLEKHA4	SO:0001583	missense	0			-	HGNC	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.892C>T	19.37:g.49362197G>A	ENSP00000263265:p.Arg298Cys	Somatic	0	29	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	22	43.59	Q8N4M8|Q8N658	Missense_Mutation	SNP	25	0	0	27	34.15	14	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R298C	ENST00000263265.6	37	c.892	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314910	0.81358	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15952	3.0;2.38	4.78	4.78	0.61160	.	0.122950	0.40222	N	0.001158	T	0.18923	0.0454	L	0.27053	0.805	0.47819	D	0.999526	D;D	0.71674	0.993;0.998	P;P	0.50896	0.653;0.65	T	0.00542	-1.1680	10	0.51188	T	0.08	.	13.5286	0.61609	0.0:0.0:1.0:0.0	.	298;298	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	C	298	ENSP00000263265:R298C;ENSP00000347683:R298C	ENSP00000263265:R298C	R	-	1	0	PLEKHA4	54054009	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.199000	0.42715	2.671000	0.90904	0.455000	0.32223	CGC	-	NULL		0.662	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	protein_coding	OTTHUMT00000466216.1	G		-		49362197	-1	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49362197	G	A	49362197	3	1	163	1	0	0	0	0	1	0	0	0	12060	1116	39	1	1499	1	PLEKHA4	19	49362197	Missense_Mutation	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	34126406	49362197	9766786	46	11622											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgctcagatgacacccCcatggtgcggcgggccgcag	14	15	1	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	26	Substitution - Missense(26)	endometrium(25)|ovary(1)						ENSG00000105568						61	52	55					19																	52715971		2203	4300	6503	PPP2R1A	SO:0001583	missense	0			-	HGNC		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg	Somatic	0	45	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	37	49.32	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	24	0	0	21	50.00	21	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P179R	ENST00000322088.6	37	c.536	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	protein_coding	OTTHUMT00000267967.2	C	NM_014225	-		52715971	1	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	SNP	1.000	G	G	52715971	C	G	52715971	3	3	163	1	0	0	0	0	1	0	0	0	12387	623	22	4	554	4	PPP2R1A	19	52715971	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09	3353774	52715971	6413012	47	11623											
LAMA5	3911	genome.wustl.edu	37	chr20	60888027	60888027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagtcatacaacagcaCgaggctgccttcttgcacgg	9	14	2	0			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr20:60888027C>T	ENST00000252999.3	-	66	9061	c.8995G>A	c.(8995-8997)Gtg>Atg	p.V2999M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2999	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)			TACAACAGCACGAGGCTGCCT	0.647																																																	0								ENSG00000130702						48	48	48					20																	60888027		2202	4297	6499	LAMA5	SO:0001583	missense	0			-	HGNC	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.8995G>A	20.37:g.60888027C>T	ENSP00000252999:p.Val2999Met	Somatic	0	47	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	35	46.97	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	25	0	0	31	56.34	40	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.V2999M	ENST00000252999.3	37	c.8995	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	c	9.117	1.008115	0.19199	.	.	ENSG00000130702	ENST00000252999	T	0.79653	-1.29	4.64	-1.37	0.09056	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.516972	0.20516	U	0.090786	T	0.71307	0.3324	L	0.58101	1.795	0.09310	N	1	P	0.50156	0.932	B	0.42188	0.379	T	0.64449	-0.6405	10	0.24483	T	0.36	.	8.0733	0.30701	0.0:0.5134:0.3431:0.1436	.	2999	O15230	LAMA5_HUMAN	M	2999	ENSP00000252999:V2999M	ENSP00000252999:V2999M	V	-	1	0	LAMA5	60321422	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.619000	0.24388	-0.214000	0.10078	0.479000	0.44913	GTG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	C	NM_005560	-		60888027	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	SNP	0.000	T	T	60888027	C	T	60888027	3	4	163	1	0	0	0	0	1	0	0	0	8611	536	19	1	2152	1	LAMA5	20	60888027	Missense_Mutation	SNP	C	TCGA-IW-A3M5-01A-22D-A21Q-09		60888027	2137493	48	11624											
LSS	4047	genome.wustl.edu	37	chr21	47635208	47635208	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgctcatacaggttgagGagcgctacaggggacagggg	18	7	1	1			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chr21:47635208G>A	ENST00000397728.3	-	9	975	c.897C>T	c.(895-897)ctC>ctT	p.L299L	LSS_ENST00000356396.4_Silent_p.L299L|LSS_ENST00000464357.1_5'Flank|LSS_ENST00000457828.2_Silent_p.L219L|LSS_ENST00000522411.1_Silent_p.L288L	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	299					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ACAGGTTGAGGAGCGCTACAG	0.612																																					Pancreas(114;955 2313 34923 50507)												0								ENSG00000160285						68	55	59					21																	47635208		2202	4299	6501	LSS	SO:0001819	synonymous_variant	0			-	HGNC	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.897C>T	21.37:g.47635208G>A		Somatic	0	57	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	14	61.11	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	13	0	0	3	88.89	24	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.L299	ENST00000397728.3	37	c.897	CCDS13733.1	21																																																																																			-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase		0.612	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	protein_coding	OTTHUMT00000207274.2	G		-		47635208	-1	no_errors	ENST00000356396	ensembl	human	known	74_37	silent	SNP	0.370	A	A	47635208	G	A	47635208	2	1	163	1	0	0	0	0	0	0	0	1	9067	1161	41	2		2	LSS	21	47635208	Silent	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09		47635208	494687	49	11625											
SRPX	8406	genome.wustl.edu	37	chrX	38020241	38020242	+	Frame_Shift_Del	DEL	TG	TG	-													ttctcagctctgtcatagacTgtgtactggatcttgtggtc							TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chrX:38020241_38020242delTG	ENST00000378533.3	-	6	825_826	c.719_720delCA	c.(718-720)acafs	p.T240fs	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Frame_Shift_Del_p.T220fs|SRPX_ENST00000343800.6_Frame_Shift_Del_p.T227fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.T240fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.T181fs|SRPX_ENST00000479015.1_5'Flank	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	240	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				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						TGTCATAGACTGTGTACTGGAT	0.421																																																	0								ENSG00000101955																																			SRPX	SO:0001589	frameshift_variant	0				HGNC	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.719_720delCA	X.37:g.38020243_38020244delTG	ENSP00000367794:p.Thr240fs	Somatic	0	48	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	11	71.05	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Frame_Shift_Del	DEL	34	0	0	20	60.78	31	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.T240fs	ENST00000378533.3	37	c.720_719	CCDS14245.1	X																																																																																			-	pfam_Hyalin,pfscan_Hyalin		0.421	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	TG	NM_006307			38020242	-1	no_errors	ENST00000378533	ensembl	human	known	74_37	frame_shift_del	DEL	0.413:0.998	-	-	38020242	TG	-	38020241	7	5	163	1	0	1	0	1	0	0	0	0	15171	1567	55	0	694	0	SRPX	23	38020241	Frame_Shift_Del	DEL	TG	TCGA-IW-A3M5-01A-22D-A21Q-09		38020241	117250319	50	11626											
ACTRT1	139741	genome.wustl.edu	37	chrX	127185556	127185556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgatgttatttaccacGgccttgttgagtatgcaagg	10	7	1	2			TCGA-IW-A3M5-01A-22D-A21Q-09	TCGA-IW-A3M5-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ced0ce-186a-4349-8d98-572c2bc90382	e5aba172-82cb-406e-9841-d2568d14b2fc	g.chrX:127185556G>A	ENST00000371124.3	-	1	826	c.630C>T	c.(628-630)gcC>gcT	p.A210A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	210						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A210A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TATTTACCACGGCCTTGTTGA	0.532																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000123165						120	115	117					X																	127185556		2203	4300	6503	ACTRT1	SO:0001819	synonymous_variant	0			-	HGNC	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.630C>T	X.37:g.127185556G>A		Somatic	0	71	0		0.674122367972319				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	20	71.83	Q6X7C1|Q96L10	Silent	SNP	26	3.7	1	8	77.78	28	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A210	ENST00000371124.3	37	c.630	CCDS14611.1	X																																																																																			-	pfam_Actin-related,smart_Actin-related		0.532	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	protein_coding	OTTHUMT00000058192.1	G	NM_138289	-		127185556	-1	no_errors	ENST00000371124	ensembl	human	known	74_37	silent	SNP	0.000	A	A	127185556	G	A	127185556	2	1	163	1	0	0	0	0	0	0	0	1	218	1103	39	1		1	ACTRT1	23	127185556	Silent	SNP	G	TCGA-IW-A3M5-01A-22D-A21Q-09	89165315	127185556	28085004	51	11627											
RBM15	64783	genome.wustl.edu	37	chr1	110883860	110883860	+	Frame_Shift_Del	DEL	G	G	-													gtgcctgcttacgagccactGgatagcctagatcgcaggcg							TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:110883860delG	ENST00000369784.3	+	1	2733	c.1833delG	c.(1831-1833)ctgfs	p.L611fs	RBM15_ENST00000602849.1_Frame_Shift_Del_p.L611fs|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Frame_Shift_Del_p.L611fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	611					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACGAGCCACTGGATAGCCTAG	0.607			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0								ENSG00000162775						42	41	41					1																	110883860		2203	4300	6503	RBM15	SO:0001589	frameshift_variant	0				HGNC	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1833delG	1.37:g.110883860delG	ENSP00000358799:p.Leu611fs	Somatic	0	40	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL							pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D612fs	ENST00000369784.3	37	c.1833	CCDS822.1	1																																																																																			-	NULL		0.607	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	protein_coding	OTTHUMT00000031114.2	G	NM_022768			110883860	1	no_errors	ENST00000369784	ensembl	human	known	74_37	frame_shift_del	DEL	0.990	-	-	110883860	G	-	110883860	7	5	164	1	0	1	0	1	0	0	0	0	13124	1335	47	0	1835	0	RBM15	1	110883860	Frame_Shift_Del	DEL	G	TCGA-IW-A3M6-01A-11D-A21Q-09		110883860	138366761	1	11628											
ADORA3	140	genome.wustl.edu	37	chr1	112045696	112045696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggacatgatggaggcgtggGtaaagataagcagtaggcaa	16	4	0	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:112045696G>T	ENST00000241356.4	-	1	686	c.281C>A	c.(280-282)aCc>aAc	p.T94N	ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369716.4_Missense_Mutation_p.T94N|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	94					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GGAGGCGTGGGTAAAGATAAG	0.552																																																	0								ENSG00000121933						80	61	68					1																	112045696		2203	4300	6503	ADORA3	SO:0001583	missense	0			-	HGNC	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.281C>A	1.37:g.112045696G>T	ENSP00000241356:p.Thr94Asn	Somatic	0	68	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.T94N	ENST00000241356.4	37	c.281	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073773	0.76415	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.72835	-0.69;-0.69	5.26	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.284131	0.25478	N	0.030400	D	0.83972	0.5370	M	0.93062	3.375	0.37879	D	0.930337	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.986	D	0.88129	0.2837	10	0.62326	D	0.03	-28.6131	13.8007	0.63199	0.0753:0.0:0.9247:0.0	.	94;94	P33765;P33765-2	AA3R_HUMAN;.	N	94	ENSP00000358730:T94N;ENSP00000241356:T94N	ENSP00000241356:T94N	T	-	2	0	ADORA3	111847219	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.386000	0.66238	1.353000	0.45828	0.561000	0.74099	ACC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn		0.552	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	protein_coding	OTTHUMT00000033065.1	G	NM_000677, NM_020683	-		112045696	-1	no_errors	ENST00000369716	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112045696	G	T	112045696	3	4	164	1	0	0	0	0	1	0	0	0	329	1261	44	3	1397	3	ADORA3	1	112045696	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	1161836	112045696	137204925	2	11629											
PTPN22	26191	genome.wustl.edu	37	chr1	114372223	114372223	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttctttaccttactcctTgtgaaactttttccaggagt	5	10	2	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:114372223T>A	ENST00000359785.5	-	18	2376	c.2241A>T	c.(2239-2241)acA>acT	p.T747T	RP5-1073O3.2_ENST00000448199.1_RNA|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.T503T|PTPN22_ENST00000528414.1_Silent_p.T692T|PTPN22_ENST00000525799.1_Silent_p.T620T|PTPN22_ENST00000420377.2_Silent_p.T747T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	747					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		CCTTACTCCTTGTGAAACTTT	0.388																																																	0								ENSG00000134242						113	114	113					1																	114372223		2202	4300	6502	PTPN22	SO:0001819	synonymous_variant	0			-	HGNC	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2241A>T	1.37:g.114372223T>A		Somatic	0	74	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	20	51.22	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T747	ENST00000359785.5	37	c.2241	CCDS863.1	1																																																																																			-	pirsf_Non-rcpt_Tyr_Pase_8/22		0.388	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	protein_coding	OTTHUMT00000033015.1	T	NM_015967	-		114372223	-1	no_errors	ENST00000359785	ensembl	human	known	74_37	silent	SNP	1.000	A	A	114372223	T	A	114372223	2	1	164	1	0	0	0	0	0	0	0	1	12795	1799	63	5		5	PTPN22	1	114372223	Silent	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09	2326527	114372223	134878398	3	11630											
PIP5K1A	8394	genome.wustl.edu	37	chr1	151206962	151206962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtaagaccctgcagcGtgactgtttggtgagtttgt	12	8	1	3			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:151206962G>A	ENST00000368888.4	+	8	1351	c.929G>A	c.(928-930)cGt>cAt	p.R310H	PIP5K1A_ENST00000414290.2_Missense_Mutation_p.R11H|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.R298H|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.R297H|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.R298H	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	310	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			ACCCTGCAGCGTGACTGTTTG	0.408																																					Pancreas(80;36 1443 2325 16095 21302)												0								ENSG00000143398						70	67	68					1																	151206962		2203	4300	6503	PIP5K1A	SO:0001583	missense	0			-	HGNC	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.929G>A	1.37:g.151206962G>A	ENSP00000357883:p.Arg310His	Somatic	0	75	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	77	26.67	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP							pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R310H	ENST00000368888.4	37	c.929	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.245662	0.95272	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000414290	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.26	5.26	0.73747	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.976;1.0;0.979;1.0	D;P;D;P;D	0.91635	0.981;0.576;0.999;0.833;0.999	T	0.68112	-0.5495	10	0.87932	D	0	.	18.735	0.91750	0.0:0.0:1.0:0.0	.	11;298;297;310;297	B4DY52;Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;.;PI51A_HUMAN;.	H	297;298;298;297;310;11	ENSP00000271663:R297H;ENSP00000386432:R298H;ENSP00000415648:R298H;ENSP00000357885:R297H;ENSP00000357883:R310H;ENSP00000388800:R11H	ENSP00000271663:R297H	R	+	2	0	PIP5K1A	149473586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.604000	0.98317	2.771000	0.95319	0.580000	0.79431	CGT	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.408	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	protein_coding	OTTHUMT00000034425.2	G	NM_003557	-		151206962	1	no_errors	ENST00000368888	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151206962	G	A	151206962	3	1	164	1	0	0	0	0	1	0	0	0	11941	1145	40	1	959	1	PIP5K1A	1	151206962	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	36834739	151206962	98043659	4	11631											
RPTN	126638	genome.wustl.edu	37	chr1	152128339	152128339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgactgtagtgggaActctggccttgtctctctgt	10	11	4	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:152128339A>T	ENST00000316073.3	-	3	1300	c.1236T>A	c.(1234-1236)agT>agA	p.S412R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	412	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTAGTGGGAACTCTGGCCTT	0.512																																																	0								ENSG00000215853						781	676	708					1																	152128339		1568	3582	5150	RPTN	SO:0001583	missense	0			-	HGNC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1236T>A	1.37:g.152128339A>T	ENSP00000317895:p.Ser412Arg	Somatic	0	387	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	146	370	28.24	B7ZBZ3	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S412R	ENST00000316073.3	37	c.1236	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	a	11.29	1.595311	0.28445	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12361	2.69	4.48	-3.1	0.05315	.	.	.	.	.	T	0.06826	0.0174	M	0.82923	2.615	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.33445	-0.9868	9	0.14252	T	0.57	.	10.7772	0.46356	0.5328:0.0:0.4672:0.0	.	412	Q6XPR3	RPTN_HUMAN	R	412;67	ENSP00000317895:S412R	ENSP00000317895:S412R	S	-	3	2	RPTN	150394963	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.695000	0.05109	-0.501000	0.06605	0.323000	0.21402	AGT	-	NULL		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	protein_coding	OTTHUMT00000333867.1	A	XM_371312	-		152128339	-1	no_errors	ENST00000316073	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152128339	A	T	152128339	3	4	164	1	0	0	0	0	1	0	0	0	13672	40	2	5	1122	5	RPTN	1	152128339	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	921377	152128339	97122282	5	11632											
FCRL1	115350	genome.wustl.edu	37	chr1	157772364	157772364	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtctcctgtgcccataGcaactgagcagatgaggacc	11	11	1	4			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:157772364G>C	ENST00000368176.3	-	4	477	c.410C>G	c.(409-411)gCt>gGt	p.A137G	FCRL1_ENST00000491942.1_Missense_Mutation_p.A137G|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.A137G	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	137	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTGCCCATAGCAACTGAGCA	0.542																																					GBM(54;482 1003 11223 30131 35730)												0								ENSG00000163534						83	72	76					1																	157772364		2203	4300	6503	FCRL1	SO:0001583	missense	0			-	HGNC	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.410C>G	1.37:g.157772364G>C	ENSP00000357158:p.Ala137Gly	Somatic	0	43	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	56	21.13	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP							pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A137G	ENST00000368176.3	37	c.410	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509166	0.27036	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.12361	2.69;2.69;2.69	5.52	3.61	0.41365	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.742385	0.12436	N	0.469134	T	0.26919	0.0659	M	0.91972	3.26	0.09310	N	1	D;D;D	0.58970	0.984;0.968;0.978	P;P;P	0.61592	0.853;0.891;0.829	T	0.13415	-1.0510	10	0.45353	T	0.12	.	11.6485	0.51275	0.0:0.0:0.6792:0.3208	.	137;137;137	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	G	137	ENSP00000351039:A137G;ENSP00000357158:A137G;ENSP00000418130:A137G	ENSP00000351039:A137G	A	-	2	0	FCRL1	156038988	0.002000	0.14202	0.001000	0.08648	0.175000	0.22909	1.171000	0.31896	0.772000	0.33382	-0.182000	0.12963	GCT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	protein_coding	OTTHUMT00000051401.1	G	NM_052938	-		157772364	-1	no_errors	ENST00000368176	ensembl	human	known	74_37	missense	SNP	0.002	C	C	157772364	G	C	157772364	3	2	164	1	0	0	0	0	1	0	0	0	5796	971	34	4	977	4	FCRL1	1	157772364	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	5644025	157772364	91478257	6	11633											
OR6K6	128371	genome.wustl.edu	37	chr1	158725397	158725397	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggtcatcacaaggcCttttccacctgtgctgctca	9	13	3	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:158725397C>A	ENST00000368144.2	+	1	888	c.792C>A	c.(790-792)gcC>gcA	p.A264A		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	264						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(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATCACAAGGCCTTTTCCACCT	0.468																																																	0								ENSG00000180433						273	213	234					1																	158725397		2203	4300	6503	OR6K6	SO:0001819	synonymous_variant	0			-	HGNC	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.792C>A	1.37:g.158725397C>A		Somatic	0	113	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	119	26.99	B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A264	ENST00000368144.2	37	c.792	CCDS30904.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	protein_coding	OTTHUMT00000059065.2	C	NM_001005184	-		158725397	1	no_errors	ENST00000368144	ensembl	human	known	74_37	silent	SNP	0.308	A	A	158725397	C	A	158725397	2	1	164	1	0	0	0	0	0	0	0	1	11206	668	24	3		3	OR6K6	1	158725397	Silent	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	953033	158725397	90525224	7	11634											
DUSP27	92235	genome.wustl.edu	37	chr1	167097466	167097466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacgagacctcaagttcccGagaggagagcccagagccct	11	14	1	4			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:167097466G>A	ENST00000361200.2	+	6	3264	c.3098G>A	c.(3097-3099)cGa>cAa	p.R1033Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1033Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1033Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1033	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R1033Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCAAGTTCCCGAGAGGAGAGC	0.577																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000198842						38	42	41					1																	167097466		2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3098G>A	1.37:g.167097466G>A	ENSP00000354483:p.Arg1033Gln	Somatic	0	30	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	A0AUM4|Q9C074	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R1033Q	ENST00000361200.2	37	c.3098	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487174	0.63962	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05319	3.46;3.46;3.46	5.42	4.51	0.55191	.	0.000000	0.41396	D	0.000886	T	0.03915	0.0110	M	0.65975	2.015	0.28042	N	0.933729	B	0.28470	0.213	B	0.22601	0.04	T	0.14699	-1.0463	10	0.72032	D	0.01	-4.0827	14.342	0.66633	0.0717:0.0:0.9283:0.0	.	1033	Q5VZP5	DUS27_HUMAN	Q	1033	ENSP00000354483:R1033Q;ENSP00000271385:R1033Q;ENSP00000404874:R1033Q	ENSP00000271385:R1033Q	R	+	2	0	DUSP27	165364090	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	4.473000	0.60196	1.277000	0.44412	0.643000	0.83706	CGA	-	NULL		0.577	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	G	NM_001080426	-		167097466	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	0.989	A	A	167097466	G	A	167097466	3	1	164	1	0	0	0	0	1	0	0	0	4826	1058	37	1	3116	1	DUSP27	1	167097466	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	8372069	167097466	82153155	8	11635											
TNR	7143	genome.wustl.edu	37	chr1	175325480	175325480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagttggtgctgatggtGccactggtgagaggtccatt	15	6	0	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:175325480G>A	ENST00000367674.2	-	16	3801	c.3093C>T	c.(3091-3093)ggC>ggT	p.G1031G	TNR_ENST00000263525.2_Silent_p.G1031G			Q92752	TENR_HUMAN	tenascin R	1031	Fibronectin type-III 8. {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)				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)					TGCTGATGGTGCCACTGGTGA	0.498																																																	0								ENSG00000116147						257	220	233					1																	175325480		2203	4300	6503	TNR	SO:0001819	synonymous_variant	0			-	HGNC	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.3093C>T	1.37:g.175325480G>A		Somatic	0	81	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	120	8.40	C9J563|Q15568|Q5R3G0	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.G1031	ENST00000367674.2	37	c.3093	CCDS1318.1	1																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285	-		175325480	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	SNP	1.000	A	A	175325480	G	A	175325480	2	1	164	1	0	0	0	0	0	0	0	1	16345	1306	46	2		2	TNR	1	175325480	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	8228014	175325480	73925141	9	11636											
PAPPA2	60676	genome.wustl.edu	37	chr1	176668407	176668407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctgtgggtcacttcctTcttcatggagtcctcgcagg	10	14	3	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:176668407T>C	ENST00000367662.3	+	8	4082	c.2918T>C	c.(2917-2919)tTc>tCc	p.F973S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	973					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)			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						GTCACTTCCTTCTTCATGGAG	0.557																																																	0								ENSG00000116183						174	173	173					1																	176668407		2059	4201	6260	PAPPA2	SO:0001583	missense	0			-	HGNC	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.2918T>C	1.37:g.176668407T>C	ENSP00000356634:p.Phe973Ser	Somatic	0	36	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	64	24.71	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.F973S	ENST00000367662.3	37	c.2918	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735093	0.30774	.	.	ENSG00000116183	ENST00000367662	T	0.01527	4.8	5.05	5.05	0.67936	Fibronectin, type III (2);	0.196875	0.41823	D	0.000808	T	0.01592	0.0051	N	0.12182	0.205	0.80722	D	1	B	0.16166	0.016	B	0.14578	0.011	T	0.63310	-0.6666	10	0.39692	T	0.17	-16.2744	14.64	0.68717	0.0:0.0:0.0:1.0	.	973	Q9BXP8	PAPP2_HUMAN	S	973	ENSP00000356634:F973S	ENSP00000356634:F973S	F	+	2	0	PAPPA2	174935030	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.455000	0.60075	2.105000	0.64084	0.533000	0.62120	TTC	-	superfamily_Fibronectin_type3		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	T		-		176668407	1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	SNP	1.000	C	C	176668407	T	C	176668407	3	2	164	1	0	0	0	0	1	0	0	0	11435	1783	62	5	2997	5	PAPPA2	1	176668407	Missense_Mutation	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09	1342927	176668407	72582214	10	11637											
LAMC1	3915	genome.wustl.edu	37	chr1	183094669	183094669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctacaatctgcagagtGggcaaggctgtgagaggtga	15	6	2	3			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:183094669G>A	ENST00000258341.4	+	15	3042	c.2785G>A	c.(2785-2787)Ggg>Agg	p.G929R	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	929	Laminin EGF-like 9. {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)			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						TCTGCAGAGTGGGCAAGGCTG	0.443																																																	0								ENSG00000135862						128	100	110					1																	183094669		2203	4300	6503	LAMC1	SO:0001583	missense	0			-	HGNC	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.2785G>A	1.37:g.183094669G>A	ENSP00000258341:p.Gly929Arg	Somatic	0	106	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	172	10.42	Q5VYE7	Missense_Mutation	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G929R	ENST00000258341.4	37	c.2785	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853733	0.91355	.	.	ENSG00000135862	ENST00000258341	T	0.54279	0.58	5.51	5.51	0.81932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84237	0.0470	10	0.87932	D	0	.	19.4089	0.94660	0.0:0.0:1.0:0.0	.	929	P11047	LAMC1_HUMAN	R	929	ENSP00000258341:G929R	ENSP00000258341:G929R	G	+	1	0	LAMC1	181361292	1.000000	0.71417	0.937000	0.37676	0.929000	0.56500	9.135000	0.94478	2.583000	0.87209	0.563000	0.77884	GGG	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.443	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	G	NM_002293	-		183094669	1	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	SNP	1.000	A	A	183094669	G	A	183094669	3	1	164	1	0	0	0	0	1	0	0	0	8616	1348	47	2	2843	2	LAMC1	1	183094669	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	6426262	183094669	66155952	11	11638											
EHBP1	23301	genome.wustl.edu	37	chr2	63272304	63272304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagggacctggacgcGcaggagaagcagtgagtggg	18	9	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:63272304G>A	ENST00000263991.5	+	24	4076	c.3594G>A	c.(3592-3594)gcG>gcA	p.A1198A	EHBP1_ENST00000354487.3_Silent_p.A1163A|EHBP1_ENST00000496857.1_3'UTR|AC009501.4_ENST00000412297.1_RNA|AC009501.4_ENST00000413549.1_RNA|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000405289.1_Silent_p.A1163A|EHBP1_ENST00000431489.1_Silent_p.A1127A|AC009501.4_ENST00000437346.1_RNA|EHBP1_ENST00000405015.3_Silent_p.A1127A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1198						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTGGACGCGCAGGAGAAGC	0.652																																																	0								ENSG00000115504						21	21	21					2																	63272304		2197	4295	6492	EHBP1	SO:0001819	synonymous_variant	0			-	HGNC	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3594G>A	2.37:g.63272304G>A		Somatic	0	44	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A1198	ENST00000263991.5	37	c.3594	CCDS1872.1	2																																																																																			-	pfam_DUF3585		0.652	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	protein_coding	OTTHUMT00000251616.1	G	NM_015252	-		63272304	1	no_errors	ENST00000263991	ensembl	human	known	74_37	silent	SNP	0.008	A	A	63272304	G	A	63272304	2	1	164	1	0	0	0	0	0	0	0	1	4977	1074	38	1		1	EHBP1	2	63272304	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09		63272304	179927069	12	11639											
ALMS1	7840	genome.wustl.edu	37	chr2	73676394	73676394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactcacacagagagaagCccattattttttcccagcag	6	12	2	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:73676394C>T	ENST00000264448.6	+	8	2848	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P871S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P913S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	913	34 X 47 AA approximate tandem repeat.				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						CAGAGAGAAGCCCATTATTTT	0.473																																																	0								ENSG00000116127						82	85	84					2																	73676394		1842	4082	5924	ALMS1	SO:0001583	missense	0			-	HGNC	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.2737C>T	2.37:g.73676394C>T	ENSP00000264448:p.Pro913Ser	Somatic	0	28	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP							NULL	p.P913S	ENST00000264448.6	37	c.2737	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215305	0.22373	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.21;3.21;2.33	2.92	2.01	0.26516	.	0.000000	0.51477	D	0.000081	T	0.16557	0.0398	L	0.46157	1.445	0.09310	N	1	D;P;P	0.59357	0.985;0.801;0.89	P;B;B	0.48524	0.58;0.26;0.374	T	0.12319	-1.0552	10	0.18710	T	0.47	.	7.8252	0.29311	0.0:0.7414:0.2586:0.0	.	913;871;913	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	871;913;913	ENSP00000386627:P871S;ENSP00000264448:P913S;ENSP00000366944:P913S	ENSP00000264448:P913S	P	+	1	0	ALMS1	73529902	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.965000	0.29319	0.761000	0.33130	-0.274000	0.10170	CCC	-	NULL		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	C	NM_015120	-		73676394	1	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	SNP	0.002	T	T	73676394	C	T	73676394	3	4	164	1	0	0	0	0	1	0	0	0	535	739	26	2	2767	2	ALMS1	2	73676394	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	10404090	73676394	169522979	13	11640											
SAP130	79595	genome.wustl.edu	37	chr2	128700080	128700080	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcctgcaggttagtaAgtctttcatagacatcatgt	7	10	3	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:128700080A>C	ENST00000259235.3	-	19	3035	c.2906T>G	c.(2905-2907)cTt>cGt	p.L969R	SAP130_ENST00000259234.6_Missense_Mutation_p.L977R|SAP130_ENST00000357702.5_Missense_Mutation_p.L1004R	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	969	Interactions with SIN3A and HDAC1.				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)			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)		CAGGTTAGTAAGTCTTTCATA	0.423																																																	0								ENSG00000136715						240	191	208					2																	128700080		2203	4300	6503	SAP130	SO:0001583	missense	0			-	HGNC	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.2906T>G	2.37:g.128700080A>C	ENSP00000259235:p.Leu969Arg	Somatic	0	94	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	61	32.22	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP							NULL	p.L1004R	ENST00000259235.3	37	c.3011	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	25.2	4.614256	0.87359	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81453	-0.0926	9	0.72032	D	0.01	-21.4296	15.8583	0.79000	1.0:0.0:0.0:0.0	.	1004;969;534;606	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	R	1004;969;977	.	ENSP00000259234:L977R	L	-	2	0	SAP130	128416550	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.366000	0.90111	2.326000	0.78906	0.533000	0.62120	CTT	-	NULL		0.423	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	protein_coding	OTTHUMT00000254436.3	A	NM_024545	-		128700080	-1	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	SNP	1.000	C	C	128700080	A	C	128700080	3	2	164	1	0	0	0	0	1	0	0	0	13839	72	3	5	248	5	SAP130	2	128700080	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	55023686	128700080	114499293	14	11641											
POTEF	728378	genome.wustl.edu	37	chr2	130832919	130832919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagagccgttgtcaatgAcgagcacagcggtatcatca	11	11	3	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:130832919A>G	ENST00000409914.2	-	17	2525	c.2126T>C	c.(2125-2127)gTc>gCc	p.V709A	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.V709A	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	709	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTTGTCAATGACGAGCACAGC	0.527																																																	0								ENSG00000196604						11	11	11					2																	130832919		1970	4128	6098	POTEF	SO:0001583	missense	0			-	HGNC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2126T>C	2.37:g.130832919A>G	ENSP00000386786:p.Val709Ala	Somatic	0	182	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	117	32.76	A6NC34	Missense_Mutation	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.V709A	ENST00000409914.2	37	c.2126	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	15.22	2.768775	0.49680	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97811	-4.55;-4.55	.	.	.	.	.	.	.	.	D	0.98861	0.9615	H	0.98629	4.285	0.80722	D	1	P	0.46987	0.888	D	0.63113	0.911	D	0.97201	0.9864	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	709	A5A3E0	POTEF_HUMAN	A	709	ENSP00000350052:V709A;ENSP00000386786:V709A	ENSP00000350052:V709A	V	-	2	0	POTEF	130549389	1.000000	0.71417	0.197000	0.23402	0.159000	0.22180	6.245000	0.72398	0.103000	0.17682	0.102000	0.15555	GTC	-	pfam_Actin-related,smart_Actin-related		0.527	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	protein_coding	OTTHUMT00000331889.2	A	NM_001099771	-		130832919	-1	no_errors	ENST00000357462	ensembl	human	known	74_37	missense	SNP	1.000	G	G	130832919	A	G	130832919	3	3	164	1	0	0	0	0	1	0	0	0	12267	275	10	5	1105	5	POTEF	2	130832919	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	2132839	130832919	112366454	15	11642											
NEB	4703	genome.wustl.edu	37	chr2	152426886	152426886	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtcccttctgcttctcAtggtcaagcttatatttata	6	9	3	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:152426886A>G	ENST00000172853.10	-	81	12183	c.12036T>C	c.(12034-12036)caT>caC	p.H4012H	NEB_ENST00000604864.1_Silent_p.H5713H|NEB_ENST00000427231.2_Silent_p.H5713H|NEB_ENST00000603639.1_Silent_p.H5713H|NEB_ENST00000409198.1_Silent_p.H4012H|NEB_ENST00000397345.3_Silent_p.H5713H			P20929	NEBU_HUMAN	nebulin	4012					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)		TCTGCTTCTCATGGTCAAGCT	0.478																																																	0								ENSG00000183091						38	37	38					2																	152426886		1951	4148	6099	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.12036T>C	2.37:g.152426886A>G		Somatic	0	68	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H5713	ENST00000172853.10	37	c.17139		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.478	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		A	NM_004543	-		152426886	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.065	G	G	152426886	A	G	152426886	2	3	164	1	0	0	0	0	0	0	0	1	10304	214	8	5		5	NEB	2	152426886	Silent	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	21593967	152426886	90772487	16	11643											
DCAF17	80067	genome.wustl.edu	37	chr2	172325408	172325409	+	Frame_Shift_Ins	INS	-	-	T													tctctacagacatgccaccaINSctgctctttgaggtgtcatc							TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:172325408_172325409insT	ENST00000375255.3	+	9	1176_1177	c.849_850insT	c.(850-852)ctgfs	p.L284fs	DCAF17_ENST00000539783.1_Frame_Shift_Ins_p.L284fs|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	284					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACATGCCACCACTGCTCTTTGA	0.441																																																	0								ENSG00000115827																																			DCAF17	SO:0001589	frameshift_variant	0				HGNC	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	Exception_encountered	2.37:g.172325408_172325409insT	ENSP00000364404:p.Leu284fs	Somatic	0	63	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	B2RTW5|Q53TN3|Q9H908	Frame_Shift_Ins	INS							NULL	p.L283fs	ENST00000375255.3	37	c.849_850	CCDS2243.2	2																																																																																			-	NULL		0.441	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	protein_coding	OTTHUMT00000255342.2	-	NM_025000			172325409	1	no_errors	ENST00000375255	ensembl	human	known	74_37	frame_shift_ins	INS	0.959:0.976	T	T	172325409	-	T	172325408	7	5	164	1	0	1	1	0	0	0	0	0	4271	146	6	0	883	0	DCAF17	2	172325408	Frame_Shift_Ins	INS	-	TCGA-IW-A3M6-01A-11D-A21Q-09	19898522	172325408	70873965	17	11644											
TTN	7273	genome.wustl.edu	37	chr2	179469727	179469727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttaccatatacttcaacGtgaacatttcggaacactga	5	11	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:179469727G>T	ENST00000591111.1	-	230	49478	c.49254C>A	c.(49252-49254)caC>caA	p.H16418Q	TTN_ENST00000342175.6_Missense_Mutation_p.H9186Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H18059Q|TTN_ENST00000359218.5_Missense_Mutation_p.H9119Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H8994Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H15491Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16418	Ig-like 100.				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)			ATACTTCAACGTGAACATTTC	0.428																																																	0								ENSG00000155657						252	235	241					2																	179469727		1946	4134	6080	TTN	SO:0001583	missense	0			-	HGNC	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.49254C>A	2.37:g.179469727G>T	ENSP00000465570:p.His16418Gln	Somatic	0	54	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H15491Q	ENST00000591111.1	37	c.46473		2	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732062	0.15507	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.95	-7.85	0.01192	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39545	0.1082	N	0.05124	-0.11	0.19575	N	0.999969	B;B;B;B	0.26512	0.151;0.151;0.151;0.151	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.23762	-1.0179	9	0.87932	D	0	.	18.129	0.89595	0.6698:0.0:0.3302:0.0	.	8994;9119;9186;16418	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15491;8994;9186;9119;8994	ENSP00000343764:H15491Q;ENSP00000434586:H8994Q;ENSP00000340554:H9186Q;ENSP00000352154:H9119Q	ENSP00000340554:H9186Q	H	-	3	2	TTN	179177972	0.082000	0.21442	0.557000	0.28306	0.848000	0.48234	-0.353000	0.07691	-1.659000	0.01488	-0.244000	0.11960	CAC	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179469727	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.044	T	T	179469727	G	T	179469727	3	4	164	1	0	0	0	0	1	0	0	0	16742	1136	40	3	53848	3	TTN	2	179469727	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	7144319	179469727	63729646	18	11645											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217279860	217279860	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttgagttatgagttaggtCaaggtcatgctcaggcttca	11	7	5	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:217279860C>T	ENST00000357276.4	+	3	763	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Nonsense_Mutation_p.Q145*	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	145					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGAGTTAGGTCAAGGTCATGC	0.502									Schimke Immuno-Osseous Dysplasia																																								0								ENSG00000138375						122	111	114					2																	217279860		2203	4300	6503	SMARCAL1	SO:0001587	stop_gained	0	Familial Cancer Database	SIOD	-	HGNC	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.433C>T	2.37:g.217279860C>T	ENSP00000349823:p.Gln145*	Somatic	0	61	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	13	65.79	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP							pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q145*	ENST00000357276.4	37	c.433	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986011	0.93044	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	.	.	.	4.9	2.03	0.26663	.	0.523824	0.18661	N	0.134721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.0146	8.9109	0.35552	0.0:0.6266:0.2931:0.0803	.	.	.	.	X	145;145;145;44;9	.	ENSP00000349823:Q145X	Q	+	1	0	SMARCAL1	216988105	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.057000	0.11768	0.240000	0.21263	0.655000	0.94253	CAA	-	NULL		0.502	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	C		-		217279860	1	no_errors	ENST00000357276	ensembl	human	known	74_37	nonsense	SNP	0.003	T	T	217279860	C	T	217279860	4	4	164	1	0	0	0	0	0	1	0	0	14781	827	29	2	435	2	SMARCAL1	2	217279860	Nonsense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	37810133	217279860	25919513	19	11646											
RAD18	56852	genome.wustl.edu	37	chr3	8981242	8981242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaacttccttaccttcTgaggctttccttcttctctt	4	14	4	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr3:8981242T>C	ENST00000264926.2	-	6	816	c.700A>G	c.(700-702)Aga>Gga	p.R234G	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	234					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CCTTACCTTCTGAGGCTTTCC	0.433								Rad6 pathway																																									0								ENSG00000070950						183	190	188					3																	8981242		2203	4300	6503	RAD18	SO:0001583	missense	0			-	HGNC		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.700A>G	3.37:g.8981242T>C	ENSP00000264926:p.Arg234Gly	Somatic	0	88	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	63	31.52	Q58F55|Q9NRT6	Missense_Mutation	SNP							pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom	p.R234G	ENST00000264926.2	37	c.700	CCDS2571.1	3	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657513	0.67586	.	.	ENSG00000070950	ENST00000264926	T	0.27402	1.67	5.77	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.77103	2.36	0.50313	D	0.999861	P	0.37663	0.604	B	0.38803	0.282	T	0.37820	-0.9689	10	0.54805	T	0.06	.	14.3297	0.66548	0.0:0.0:0.5826:0.4174	.	234	Q9NS91	RAD18_HUMAN	G	234	ENSP00000264926:R234G	ENSP00000264926:R234G	R	-	1	2	RAD18	8956242	0.405000	0.25336	0.931000	0.37212	0.896000	0.52359	0.350000	0.20079	0.032000	0.15435	0.528000	0.53228	AGA	-	NULL		0.433	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	protein_coding	OTTHUMT00000207071.2	T	NM_020165	-		8981242	-1	no_errors	ENST00000264926	ensembl	human	known	74_37	missense	SNP	0.932	C	C	8981242	T	C	8981242	3	2	164	1	0	0	0	0	1	0	0	0	12988	1588	55	5	819	5	RAD18	3	8981242	Missense_Mutation	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09		8981242	189041188	20	11647											
ATR	545	genome.wustl.edu	37	chr3	142185195	142185195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctgcaatataggcccAatgtccaggaaatggttcat	8	10	1	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr3:142185195A>G	ENST00000350721.4	-	40	6989	c.6868T>C	c.(6868-6870)Tgg>Cgg	p.W2290R	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.W2226R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2290					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATATAGGCCCAATGTCCAGGA	0.343								Other conserved DNA damage response genes																																									0								ENSG00000175054						150	136	141					3																	142185195		2203	4300	6503	ATR	SO:0001583	missense	0			-	HGNC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6868T>C	3.37:g.142185195A>G	ENSP00000343741:p.Trp2290Arg	Somatic	0	39	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.W2290R	ENST00000350721.4	37	c.6868	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.77|16.77	3.214922|3.214922	0.58452|0.58452	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|T;T	.|0.80653	.|-1.4;-1.4	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80944|0.80944	0.4721|0.4721	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|B	.|0.44278	.|0.445	T|T	0.80322|0.80322	-0.1431|-0.1431	5|10	.|0.28530	.|T	.|0.3	-1.2285|-1.2285	15.2758|15.2758	0.73739|0.73739	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2290	.|Q13535	.|ATR_HUMAN	S|R	136|2290;2226	.|ENSP00000343741:W2290R;ENSP00000372581:W2226R	.|ENSP00000343741:W2290R	L|W	-|-	2|1	0|0	ATR|ATR	143667885|143667885	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	7.312000|7.312000	0.78968|0.78968	2.017000|2.017000	0.59298|0.59298	0.477000|0.477000	0.44152|0.44152	TTG|TGG	-	superfamily_Kinase-like_dom		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	A	NM_001184	-		142185195	-1	no_errors	ENST00000350721	ensembl	human	known	74_37	missense	SNP	1.000	G	G	142185195	A	G	142185195	3	3	164	1	0	0	0	0	1	0	0	0	1204	130	5	5	1098	5	ATR	3	142185195	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	133203953	142185195	55837235	21	11648											
ZBTB49	166793	genome.wustl.edu	37	chr4	4322643	4322643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgtcggttaaactccCtgtccacccagtggaaaatt	9	12	0	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr4:4322643C>A	ENST00000337872.4	+	8	2019	c.1898C>A	c.(1897-1899)cCt>cAt	p.P633H	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000355834.3_Missense_Mutation_p.P511H|ZBTB49_ENST00000538529.1_Missense_Mutation_p.P116H	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	633					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTTAAACTCCCTGTCCACCCA	0.512																																																	0								ENSG00000168826						41	41	41					4																	4322643		2203	4300	6503	ZBTB49	SO:0001583	missense	0			-	HGNC	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1898C>A	4.37:g.4322643C>A	ENSP00000338807:p.Pro633His	Somatic	0	32	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P633H	ENST00000337872.4	37	c.1898	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301427	0.60195	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.18338	2.22;2.65;2.99	4.36	4.36	0.52297	.	0.000000	0.48286	D	0.000183	T	0.42291	0.1196	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.956	T	0.44128	-0.9348	10	0.66056	D	0.02	.	17.2536	0.87049	0.0:1.0:0.0:0.0	.	511;633	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	H	511;633;116	ENSP00000348091:P511H;ENSP00000338807:P633H;ENSP00000445653:P116H	ENSP00000338807:P633H	P	+	2	0	ZBTB49	4373544	0.998000	0.40836	0.989000	0.46669	0.146000	0.21551	3.551000	0.53698	2.156000	0.67533	0.455000	0.32223	CCT	-	NULL		0.512	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	protein_coding	OTTHUMT00000206688.3	C	NM_145291	-		4322643	1	no_errors	ENST00000337872	ensembl	human	known	74_37	missense	SNP	0.999	A	A	4322643	C	A	4322643	3	1	164	1	0	0	0	0	1	0	0	0	17557	681	24	3	1924	3	ZBTB49	4	4322643	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09		4322643	186831633	22	11649											
CSN2	1447	genome.wustl.edu	37	chr4	70823302	70823302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcaaaaaagggtatcGttggagatttaaggacaggc	15	4	1	1	rs140189537	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr4:70823302G>A	ENST00000353151.3	-	5	376	c.365C>T	c.(364-366)aCg>aTg	p.T122M		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AAAGGGTATCGTTGGAGATTT	0.488																																																	0								ENSG00000135222	G	MET/THR	0,4406		0,0,2203	114	115	115		365	-8.5	0	4	dbSNP_134	115	7,8593	5.7+/-21.5	0,7,4293	yes	missense	CSN2	NM_001891.2	81	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	122/227	70823302	7,12999	2203	4300	6503	CSN2	SO:0001583	missense	0			-	HGNC	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.365C>T	4.37:g.70823302G>A	ENSP00000341030:p.Thr122Met	Somatic	0	57	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP							pfam_Casein,pirsf_Casein_beta	p.T122M	ENST00000353151.3	37	c.365	CCDS3532.1	4	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025402	0.07589	0.0	8.14E-4	ENSG00000135222	ENST00000353151	.	.	.	4.26	-8.52	0.00920	.	2.980090	0.01164	N	0.006715	T	0.16642	0.0400	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14868	-1.0457	9	0.56958	D	0.05	-27.0625	1.4231	0.02317	0.4238:0.0915:0.2104:0.2742	.	122	P05814	CASB_HUMAN	M	122	.	ENSP00000341030:T122M	T	-	2	0	CSN2	70857891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.787000	0.01764	-2.918000	0.00305	-3.218000	0.00053	ACG	-	pirsf_Casein_beta		0.488	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	protein_coding	OTTHUMT00000251565.1	G		rs140189537		70823302	-1	no_errors	ENST00000353151	ensembl	human	known	74_37	missense	SNP	0.000	A	A	70823302	G	A	70823302	3	1	164	1	0	0	0	0	1	0	0	0	3950	1145	40	1	323	1	CSN2	4	70823302	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	66500659	70823302	120330974	23	11650											
AMACR	23600	genome.wustl.edu	37	chr5	34005864	34005864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttttttcaacatacctgAcaaagccaaatagttgatat	4	7	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:34005864A>G	ENST00000335606.6	-	2	476	c.388T>C	c.(388-390)Tca>Cca	p.S130P	RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.V277A|AMACR_ENST00000426255.2_Missense_Mutation_p.S130P|AMACR_ENST00000441713.2_Missense_Mutation_p.S130P|AMACR_ENST00000382085.3_Missense_Mutation_p.S130P|AMACR_ENST00000382068.3_Missense_Mutation_p.S130P|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_Missense_Mutation_p.S130P|AMACR_ENST00000512079.1_Missense_Mutation_p.S130P|AMACR_ENST00000502637.1_Missense_Mutation_p.S130P	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	130					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AACATACCTGACAAAGCCAAA	0.363																																																	0								ENSG00000242110						45	47	46					5																	34005864		2203	4300	6503	AMACR	SO:0001583	missense	0			-	HGNC	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.388T>C	5.37:g.34005864A>G	ENSP00000334424:p.Ser130Pro	Somatic	0	17	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.24	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP							pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.S130P	ENST00000335606.6	37	c.388	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800455	0.90538	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.46	5.46	0.80206	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	H	0.98426	4.23	0.80722	D	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	0.91635	0.999;0.996;0.998;0.999;0.996;0.999	D	0.92302	0.5850	10	0.87932	D	0	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	130;130;130;130;130;130	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	P	130	ENSP00000334424:S130P;ENSP00000371504:S130P;ENSP00000371517:S130P;ENSP00000424351:S130P;ENSP00000403800:S130P	ENSP00000334424:S130P	S	-	1	0	AMACR	34041621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.687000	0.91255	2.209000	0.71365	0.533000	0.62120	TCA	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.363	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	protein_coding	OTTHUMT00000207467.1	A	NM_014324	-		34005864	-1	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	SNP	1.000	G	G	34005864	A	G	34005864	3	3	164	1	0	0	0	0	1	0	0	0	562	275	10	5	1106	5	AMACR	5	34005864	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09		34005864	146909396	24	11651											
ERAP1	831	genome.wustl.edu	37	chr5	96098915	96098915	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggattttcatcctgttgCgtcagcttcaggatcatctg	10	9	5	0	rs372808514		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:96098915C>T	ENST00000341926.3	+	23	1845				CAST_ENST00000348386.3_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000508608.1_Intron|ERAP1_ENST00000296754.3_Missense_Mutation_p.A946T|CAST_ENST00000325674.7_Intron|CAST_ENST00000509903.1_Intron|CAST_ENST00000508579.1_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000511049.1_Intron|CAST_ENST00000515663.1_Intron|CAST_ENST00000309190.5_Intron			P20810	ICAL_HUMAN	calpastatin						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CATCCTGTTGCGTCAGCTTCA	0.443																																																	0								ENSG00000164307	C	,,THR/ALA,	0,4406		0,0,2203	136	122	127		,,2836,	-2.2	0	5		127	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	CAST,ERAP1	NM_001042440.2,NM_001190442.1,NM_016442.3,NM_173060.3	,,58,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,benign,	,,946/949,	96098915	1,13005	2203	4300	6503	ERAP1	SO:0001627	intron_variant	0			-	HGNC	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1683+839C>T	5.37:g.96098915C>T		Somatic	0	46	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	41	44.59	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A946T	ENST00000341926.3	37	c.2836		5	.	.	.	.	.	.	.	.	.	.	C	9.409	1.080142	0.20309	0.0	1.16E-4	ENSG00000164307	ENST00000296754	T	0.01335	5.0	4.41	-2.15	0.07102	.	1.138800	0.06920	N	0.809245	T	0.01092	0.0036	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49399	-0.8944	9	0.51188	T	0.08	.	0.9399	0.01353	0.1738:0.2775:0.2697:0.279	.	946	Q9NZ08-2	.	T	946	ENSP00000296754:A946T	ENSP00000296754:A946T	A	-	1	0	ERAP1	96124671	0.001000	0.12720	0.000000	0.03702	0.743000	0.42351	-0.098000	0.11024	-0.597000	0.05813	-0.766000	0.03442	GCA	-	NULL		0.443	CAST-004	KNOWN	basic	protein_coding	ERAP1	protein_coding	OTTHUMT00000250199.2	C	NM_173062	-		96098915	-1	no_errors	ENST00000296754	ensembl	human	known	74_37	missense	SNP	0.000	T	T	96098915	C	T	96098915	1	4	164	0	1	0	0	0	0	0	0	0	5205	768	27	1		1	ERAP1	5	96098915	Intron	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	62093051	96098915	84816345	25	11652											
KIF20A	10112	genome.wustl.edu	37	chr5	137520246	137520246	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggattcccatccctgcacTcgttcatcaaggaacatagt	8	12	2	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:137520246T>A	ENST00000394894.3	+	13	1790	c.1564T>A	c.(1564-1566)Tcg>Acg	p.S522T	KIF20A_ENST00000508792.1_Missense_Mutation_p.S504T	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	522					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCCTGCACTCGTTCATCAA	0.458																																																	0								ENSG00000112984						136	135	135					5																	137520246		2203	4300	6503	KIF20A	SO:0001583	missense	0			-	HGNC	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1564T>A	5.37:g.137520246T>A	ENSP00000378356:p.Ser522Thr	Somatic	0	54	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	30	36.17	B4DL79|D3DQB6	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S522T	ENST00000394894.3	37	c.1564	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650474	0.29336	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71817	-0.59;-0.6	5.1	3.92	0.45320	.	0.000000	0.34725	N	0.003723	T	0.59074	0.2167	L	0.32530	0.975	0.49213	D	0.999763	B;B	0.24483	0.021;0.104	B;B	0.27608	0.06;0.081	T	0.52358	-0.8586	10	0.28530	T	0.3	-4.8217	11.6861	0.51487	0.0:0.0:0.2791:0.7209	.	504;522	B4DL79;O95235	.;KI20A_HUMAN	T	522;504	ENSP00000378356:S522T;ENSP00000420880:S504T	ENSP00000378356:S522T	S	+	1	0	KIF20A	137548145	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	3.860000	0.55995	0.921000	0.36994	0.455000	0.32223	TCG	-	NULL		0.458	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	protein_coding	OTTHUMT00000251272.1	T	NM_005733	-		137520246	1	no_errors	ENST00000394894	ensembl	human	known	74_37	missense	SNP	1.000	A	A	137520246	T	A	137520246	3	1	164	1	0	0	0	0	1	0	0	0	8288	1551	54	5	1610	5	KIF20A	5	137520246	Missense_Mutation	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09	41421331	137520246	43395014	26	11653											
SLC6A7	6534	genome.wustl.edu	37	chr5	149583220	149583236	+	Splice_Site	DEL	CCTGGCCCAGGCCCTGG	CCTGGCCCAGGCCCTGG	-													agctgctgaccccgtgtgccCctggcccaggccctggcctg					rs377126179		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CCTGGCCCAGGCCCTGG	CCTGGCCCAGGCCCTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:149583220_149583236delCCTGGCCCAGGCCCTGG	ENST00000230671.2	+	9	1458_1465	c.1087_1094delCCTGGCCCAGGCCCTGG	c.(1087-1095)cctggccca>a	p.PGP363fs	SLC6A7_ENST00000524041.1_Splice_Site_p.PGP363fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	363					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCCGTGTGCCCCTGGCCCAGGCCCTGGCCTGGCCTTT	0.576																																																	0								ENSG00000011083																																			SLC6A7	SO:0001630	splice_region_variant	0				HGNC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1088-1CCTGGCCCAGGCCCTGG>-	5.37:g.149583220_149583236delCCTGGCCCAGGCCCTGG		Somatic					0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q0VG81|Q52LU6	Frame_Shift_Del	DEL							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A366fs	ENST00000230671.2	37	c.1098_1094	CCDS4305.1	5																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.576	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	protein_coding	OTTHUMT00000252325.1	CCTGGCCCAGGCCCTGG	NM_014228		Frame_Shift_Del	149583236	1	no_errors	ENST00000230671	ensembl	human	known	74_37	frame_shift_del	DEL	0.234:0.112:0.122:0.447:0.481:0.986:0.995:0.993:1.000:1.000:1.000:1.000:1.000:1.000:0.155:1.000:1.000	-	-	149583236	CCTGGCCCAGGCCCTGG	-	149583220	8	5	164	1	0	1	0	1	0	0	1	0	14697	638	22	0		0	SLC6A7	5	149583220	Splice_Site	DEL	CCTGGCCCAGGCCCTGG	TCGA-IW-A3M6-01A-11D-A21Q-09	12062974	149583220	31332040	27	11654											
WWC1	23286	genome.wustl.edu	37	chr5	167894930	167894930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtgcacaggctccgagGccagagctgtaaggaacccc	14	12	0	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:167894930G>A	ENST00000265293.4	+	22	3738	c.3236G>A	c.(3235-3237)gGc>gAc	p.G1079D	WWC1_ENST00000521089.1_Missense_Mutation_p.G1085D	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1079	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGCTCCGAGGCCAGAGCTGT	0.592																																																	0								ENSG00000113645						75	76	76					5																	167894930		2203	4300	6503	WWC1	SO:0001583	missense	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3236G>A	5.37:g.167894930G>A	ENSP00000265293:p.Gly1079Asp	Somatic	0	35	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	35.00	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G1079D	ENST00000265293.4	37	c.3236	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448852	0.84101	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.45276	0.9;0.9;0.9	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.64901	-0.6298	10	0.49607	T	0.09	.	18.9361	0.92586	0.0:0.0:1.0:0.0	.	1085;1079	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	D	1079;1085;410	ENSP00000265293:G1079D;ENSP00000427772:G1085D;ENSP00000428084:G410D	ENSP00000265293:G1079D	G	+	2	0	WWC1	167827508	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.618000	0.83043	2.479000	0.83701	0.591000	0.81541	GGC	-	NULL		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	G	NM_015238	-		167894930	1	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167894930	G	A	167894930	3	1	164	1	0	0	0	0	1	0	0	0	17418	1203	42	2	3340	2	WWC1	5	167894930	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	18311710	167894930	13020330	28	11655											
ZNF454	285676	genome.wustl.edu	37	chr5	178373906	178373906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaaaaacaggactcttaGgacccaaaccagatacgttt	6	11	1	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:178373906G>A	ENST00000320129.3	+	4	472	c.169G>A	c.(169-171)Gga>Aga	p.G57R	ZNF454_ENST00000519564.1_Missense_Mutation_p.G57R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	57	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(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGGACTCTTAGGACCCAAACC	0.453																																																	0								ENSG00000178187						115	117	116					5																	178373906		2203	4300	6503	ZNF454	SO:0001583	missense	0			-	HGNC	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.169G>A	5.37:g.178373906G>A	ENSP00000326249:p.Gly57Arg	Somatic	0	50	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	Q2M1P2|Q2M323	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G57R	ENST00000320129.3	37	c.169	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308341	0.40895	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.00776	5.71;5.71	4.19	3.31	0.37934	Krueppel-associated box (3);	0.000000	0.33732	N	0.004610	T	0.00875	0.0029	L	0.31664	0.95	0.31421	N	0.674299	P	0.48162	0.906	B	0.44163	0.443	T	0.54957	-0.8215	10	0.41790	T	0.15	-6.1237	9.4472	0.38703	0.0:0.0:0.7883:0.2117	.	57	Q8N9F8	ZN454_HUMAN	R	57	ENSP00000326249:G57R;ENSP00000430354:G57R	ENSP00000326249:G57R	G	+	1	0	ZNF454	178306512	0.665000	0.27466	1.000000	0.80357	0.958000	0.62258	2.602000	0.46257	1.097000	0.41459	0.563000	0.77884	GGA	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.453	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	protein_coding	OTTHUMT00000253476.2	G	XM_209718	-		178373906	1	no_errors	ENST00000320129	ensembl	human	known	74_37	missense	SNP	1.000	A	A	178373906	G	A	178373906	3	1	164	1	0	0	0	0	1	0	0	0	17930	1001	35	2	179	2	ZNF454	5	178373906	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	10478976	178373906	2541354	29	11656											
OR12D2	26529	genome.wustl.edu	37	chr6	29365079	29365079	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctactcagtactgtcacGgggacaattgccatgggccc	12	12	2	0	rs201460005	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:29365079G>T	ENST00000383555.2	+	1	664	c.603G>T	c.(601-603)acG>acT	p.T201T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GTACTGTCACGGGGACAATTG	0.448																																																	0								ENSG00000168787						156	160	158					6																	29365079		1511	2709	4220	OR12D2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.603G>T	6.37:g.29365079G>T		Somatic	0	57	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	14	61.11	B0S862|Q5SUN9|Q6IET9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T201	ENST00000383555.2	37	c.603	CCDS4659.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	protein_coding	OTTHUMT00000076054.2	G		-		29365079	1	no_errors	ENST00000383555	ensembl	human	known	74_37	silent	SNP	0.000	T	T	29365079	G	T	29365079	2	4	164	1	0	0	0	0	0	0	0	1	10933	1103	39	3		3	OR12D2	6	29365079	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09		29365079	141749988	30	11657											
PPIL6	285755	genome.wustl.edu	37	chr6	109748056	109748056	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattttaaacttaccccctcCttgtatccagccattctgta	4	13	1	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:109748056C>G	ENST00000521072.2	-	5	1205	c.625G>C	c.(625-627)Gga>Cga	p.G209R	PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000440797.2_Missense_Mutation_p.G209R|PPIL6_ENST00000424445.2_Missense_Mutation_p.G177R	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	209	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TTACCCCCTCCTTGTATCCAG	0.338																																																	0								ENSG00000185250						131	134	133					6																	109748056		2203	4300	6503	PPIL6	SO:0001583	missense	0			-	HGNC		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.625G>C	6.37:g.109748056C>G	ENSP00000427929:p.Gly209Arg	Somatic	0	43	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G209R	ENST00000521072.2	37	c.625	CCDS5074.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257599|4.257599	0.80246|0.80246	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);|.	0.059360|.	0.64402|.	D|.	0.000003|.	D|D	0.86560|0.86560	0.5962|0.5962	H|H	0.96833|0.96833	3.89|3.89	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.91209|0.91209	0.4997|0.4997	10|5	0.87932|.	D|.	0|.	-18.3396|-18.3396	17.0726|17.0726	0.86578|0.86578	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209;177;209|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	R|T	177;209;209;166|148;121	ENSP00000407731:G177R;ENSP00000392257:G209R;ENSP00000427929:G209R;ENSP00000411731:G166R|.	ENSP00000411731:G166R|.	G|R	-|-	1|2	0|0	PPIL6|PPIL6	109854749|109854749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.766000|0.766000	0.43426|0.43426	6.738000|6.738000	0.74822|0.74822	2.356000|2.356000	0.79943|0.79943	0.655000|0.655000	0.94253|0.94253	GGA|AGG	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	protein_coding	OTTHUMT00000089003.4	C		-		109748056	-1	no_errors	ENST00000521072	ensembl	human	known	74_37	missense	SNP	1.000	G	G	109748056	C	G	109748056	3	3	164	1	0	0	0	0	1	0	0	0	12336	690	24	4	408	4	PPIL6	6	109748056	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	80382977	109748056	61367011	31	11658											
SYNJ2	8871	genome.wustl.edu	37	chr6	158490642	158490642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagatacattctgttgacttCggcacagctggtgggcgtct	12	9	2	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:158490642C>T	ENST00000355585.4	+	14	1952	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S626L|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S626L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	626					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGTTGACTTCGGCACAGCTG	0.453																																																	0								ENSG00000078269						168	147	154					6																	158490642		2203	4300	6503	SYNJ2	SO:0001583	missense	0			-	HGNC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1877C>T	6.37:g.158490642C>T	ENSP00000347792:p.Ser626Leu	Somatic	0	106	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	81	32.50	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP							pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S626L	ENST00000355585.4	37	c.1877	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.545992	0.96488	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.95690	-3.78;-3.78;-3.78	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.255357	0.28442	N	0.015332	D	0.97250	0.9101	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.95256	0.8364	10	0.62326	D	0.03	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	626;626	O15056;O15056-3	SYNJ2_HUMAN;.	L	626	ENSP00000356089:S626L;ENSP00000356088:S626L;ENSP00000347792:S626L	ENSP00000347792:S626L	S	+	2	0	SYNJ2	158410630	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.611000	0.82962	-0.034000	0.13713	0.650000	0.86243	TCG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.453	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	protein_coding	OTTHUMT00000042858.2	C		-		158490642	1	no_errors	ENST00000355585	ensembl	human	known	74_37	missense	SNP	0.994	T	T	158490642	C	T	158490642	3	4	164	1	0	0	0	0	1	0	0	0	15460	893	31	1	1931	1	SYNJ2	6	158490642	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	48742586	158490642	12624425	32	11659											
SP4	6671	genome.wustl.edu	37	chr7	21469742	21469742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgccagaatctccctcctCctccactacctgcacaacca	3	19	1	1	rs568588187		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr7:21469742C>T	ENST00000222584.3	+	3	1177	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	320					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCTCCCTCCTCCTCCACTACC	0.498																																																	0								ENSG00000105866						160	107	125					7																	21469742		2203	4300	6503	SP4	SO:0001583	missense	0			-	HGNC		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.959C>T	7.37:g.21469742C>T	ENSP00000222584:p.Ser320Phe	Somatic	0	97	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	25	59.02	O60402|Q32M52	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S320F	ENST00000222584.3	37	c.959	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041144	0.55003	.	.	ENSG00000105866	ENST00000222584	T	0.10668	2.85	4.94	4.94	0.65067	.	0.131590	0.56097	D	0.000032	T	0.26159	0.0638	L	0.46157	1.445	0.58432	D	0.999999	D	0.61697	0.99	D	0.69142	0.962	T	0.00619	-1.1641	10	0.29301	T	0.29	.	18.3502	0.90336	0.0:1.0:0.0:0.0	.	320	Q02446	SP4_HUMAN	F	320	ENSP00000222584:S320F	ENSP00000222584:S320F	S	+	2	0	SP4	21436267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.559000	0.86315	0.655000	0.94253	TCC	-	NULL		0.498	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	protein_coding	OTTHUMT00000211617.2	C	NM_003112	-		21469742	1	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21469742	C	T	21469742	3	4	164	1	0	0	0	0	1	0	0	0	14974	855	30	2	969	2	SP4	7	21469742	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09		21469742	137668921	33	11660											
MMP16	4325	genome.wustl.edu	37	chr8	89128891	89128891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccggaggaatagagcGgtgtgggggcactgtcggta	19	7	1	1	rs202054317		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr8:89128891G>A	ENST00000286614.6	-	6	1209	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	310					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGAATAGAGCGGTGTGGGGGC	0.537													G|||	1	0.000199681	0	0	5008	,	,		15194	0.001		0	False		,,,				2504	0																0								ENSG00000156103						200	206	204					8																	89128891		2203	4300	6503	MMP16	SO:0001583	missense	0			GMAF=0.0005	HGNC	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.928C>T	8.37:g.89128891G>A	ENSP00000286614:p.Arg310Cys	Somatic	0	99	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	65	32.29	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R310C	ENST00000286614.6	37	c.928	CCDS6246.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.4	4.286878	0.80803	.	.	ENSG00000156103	ENST00000286614	T	0.17528	2.27	5.79	5.79	0.91817	.	0.100830	0.64402	D	0.000003	T	0.47248	0.1435	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.95	T	0.42327	-0.9458	10	0.72032	D	0.01	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	310;310	P51512-2;P51512	.;MMP16_HUMAN	C	310	ENSP00000286614:R310C	ENSP00000286614:R310C	R	-	1	0	MMP16	89198007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.724000	0.74747	2.753000	0.94483	0.557000	0.71058	CGC	-	pirsf_Pept_M10A_Metazoans		0.537	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	protein_coding	OTTHUMT00000375304.2	G	NM_005941	rs202054317		89128891	-1	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89128891	G	A	89128891	3	1	164	1	0	0	0	0	1	0	0	0	9657	1116	39	1	1071	1	MMP16	8	89128891	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09		89128891	57235131	34	11661											
FAM21A	387680	genome.wustl.edu	37	chr10	51829380	51829380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcaagaaacaagtggacgGactaattcgggaaaccaaag	10	7	1	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr10:51829380G>A	ENST00000282633.5	+	3	245	c.200G>A	c.(199-201)gGa>gAa	p.G67E	RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000314664.7_Missense_Mutation_p.G67E|FAM21A_ENST00000492914.1_3'UTR|FAM21A_ENST00000351071.6_Missense_Mutation_p.G67E	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	67					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						CAAGTGGACGGACTAATTCGG	0.378																																																	0								ENSG00000099290						191	182	184					10																	51829380		1848	4098	5946	FAM21A	SO:0001583	missense	0			-	HGNC	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.200G>A	10.37:g.51829380G>A	ENSP00000282633:p.Gly67Glu	Somatic	0	113	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	68	23.60	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP							NULL	p.G67E	ENST00000282633.5	37	c.200	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747711	0.69533	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633	.	.	.	3.73	3.73	0.42828	.	0.046598	0.85682	D	0.000000	T	0.66386	0.2784	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.986;0.987;0.998	D;D;D	0.74023	0.921;0.945;0.982	T	0.65874	-0.6062	9	0.02654	T	1	-17.5148	13.3891	0.60813	0.0:0.0:1.0:0.0	.	67;67;67	E7ESD2;Q641Q2-2;Q641Q2	.;.;FA21A_HUMAN	E	67;67;66;67	.	ENSP00000282633:G67E	G	+	2	0	FAM21A	51499386	1.000000	0.71417	0.947000	0.38551	0.840000	0.47671	9.644000	0.98468	1.792000	0.52537	0.194000	0.17425	GGA	-	NULL		0.378	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	protein_coding	OTTHUMT00000276917.2	G	NM_001005751	-		51829380	1	no_errors	ENST00000282633	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51829380	G	A	51829380	3	1	164	1	0	0	0	0	1	0	0	0	5542	1174	41	2	210	2	FAM21A	10	51829380	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09		51829380	83705367	35	11662											
SGPL1	8879	genome.wustl.edu	37	chr10	72629574	72629574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaaagtgcccatgctGcatttaacaaagcagccagt	7	14	0	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr10:72629574G>T	ENST00000373202.3	+	9	930	c.730G>T	c.(730-732)Gca>Tca	p.A244S		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	244					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TGCCCATGCTGCATTTAACAA	0.473																																					Colon(151;1054 2458 6676 40971)												0								ENSG00000166224						108	104	105					10																	72629574		2203	4300	6503	SGPL1	SO:0001583	missense	0			-	HGNC	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.730G>T	10.37:g.72629574G>T	ENSP00000362298:p.Ala244Ser	Somatic	0	31	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.A244S	ENST00000373202.3	37	c.730	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.219524	0.95139	.	.	ENSG00000166224	ENST00000373202	T	0.31247	1.5	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.045450	0.85682	D	0.000000	T	0.53222	0.1783	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.51419	-0.8708	10	0.66056	D	0.02	-15.2125	19.7206	0.96142	0.0:0.0:1.0:0.0	.	244	O95470	SGPL1_HUMAN	S	244	ENSP00000362298:A244S	ENSP00000362298:A244S	A	+	1	0	SGPL1	72299580	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	7.591000	0.82666	2.668000	0.90789	0.591000	0.81541	GCA	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.473	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	protein_coding	OTTHUMT00000048533.1	G	NM_003901	-		72629574	1	no_errors	ENST00000373202	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72629574	G	T	72629574	3	4	164	1	0	0	0	0	1	0	0	0	14226	1319	46	3	760	3	SGPL1	10	72629574	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	20800194	72629574	62905173	36	11663											
PLCE1	51196	genome.wustl.edu	37	chr10	96058263	96058263	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgaatgaaaatgccgcCaaacgtctgtgtcgcaggta	11	10	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr10:96058263C>A	ENST00000371380.3	+	23	5530	c.5295C>A	c.(5293-5295)gcC>gcA	p.A1765A	PLCE1_ENST00000371375.1_Silent_p.A1457A|PLCE1_ENST00000371385.3_Silent_p.A1457A|PLCE1_ENST00000260766.3_Silent_p.A1765A			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1765	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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)				AAAATGCCGCCAAACGTCTGT	0.522																																																	0								ENSG00000138193						77	77	77					10																	96058263		1968	4152	6120	PLCE1	SO:0001819	synonymous_variant	0			-	HGNC		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.5295C>A	10.37:g.96058263C>A		Somatic	0	49	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.A1765	ENST00000371380.3	37	c.5295	CCDS41552.1	10																																																																																			-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.522	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	C	NM_016341	-		96058263	1	no_errors	ENST00000260766	ensembl	human	known	74_37	silent	SNP	1.000	A	A	96058263	C	A	96058263	2	1	164	1	0	0	0	0	0	0	0	1	12036	581	21	3		3	PLCE1	10	96058263	Silent	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	23428689	96058263	39476484	37	11664											
CARNS1	57571	genome.wustl.edu	37	chr11	67191267	67191267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcggggcaggtgcagTgggtgtccggctggtagagg	22	6	0	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr11:67191267T>C	ENST00000307823.3	+	9	2131	c.1679T>C	c.(1678-1680)gTg>gCg	p.V560A	CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000445895.2_Missense_Mutation_p.V683A|CARNS1_ENST00000423745.2_Missense_Mutation_p.V560A|CARNS1_ENST00000531040.1_Missense_Mutation_p.V657A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	560	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCAGGTGCAGTGGGTGTCCGG	0.642																																																	0								ENSG00000172508						26	29	28					11																	67191267		2165	4262	6427	CARNS1	SO:0001583	missense	0			-	HGNC		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1679T>C	11.37:g.67191267T>C	ENSP00000308268:p.Val560Ala	Somatic	0	30	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	8	61.90	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP							superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.V683A	ENST00000307823.3	37	c.2048	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912905	0.52439	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.12	5.12	0.69794	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);	0.000000	0.45126	D	0.000386	D	0.97745	0.9260	L	0.45137	1.4	0.47698	D	0.999496	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.986	D	0.98158	1.0445	10	0.51188	T	0.08	-28.4996	13.895	0.63766	0.0:0.0:0.0:1.0	.	560;699	A5YM72;A5YM72-3	CRNS1_HUMAN;.	A	657;560;657;560;683	ENSP00000431670:V657A;ENSP00000308268:V560A;ENSP00000401519:V560A;ENSP00000389009:V683A	ENSP00000308268:V560A	V	+	2	0	CARNS1	66947843	1.000000	0.71417	0.989000	0.46669	0.643000	0.38383	4.135000	0.57997	1.942000	0.56320	0.448000	0.29417	GTG	-	pfscan_ATP-grasp		0.642	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	protein_coding	OTTHUMT00000395501.1	T	NM_020811	-		67191267	1	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67191267	T	C	67191267	3	2	164	1	0	0	0	0	1	0	0	0	2658	1696	59	5	2082	5	CARNS1	11	67191267	Missense_Mutation	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09		67191267	67815249	38	11665											
ATM	472	genome.wustl.edu	37	chr11	108199905	108199905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaaacaagcaagctcTcctgaaaagagccaaagagg	9	8	1	4			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr11:108199905T>C	ENST00000452508.2	+	50	7436	c.7247T>C	c.(7246-7248)cTc>cCc	p.L2416P	ATM_ENST00000278616.4_Missense_Mutation_p.L2416P|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2416	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGCAAGCTCTCCTGAAAAGA	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						75	73	74					11																	108199905		2201	4298	6499	ATM	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7247T>C	11.37:g.108199905T>C	ENSP00000388058:p.Leu2416Pro	Somatic	0	36	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	17	57.50	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2416P	ENST00000452508.2	37	c.7247	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636433	0.87760	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70869	-0.52;-0.52	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86321	0.1692	10	0.72032	D	0.01	.	15.6843	0.77396	0.0:0.0:0.0:1.0	.	2416	Q13315	ATM_HUMAN	P	2416	ENSP00000278616:L2416P;ENSP00000388058:L2416P	ENSP00000278616:L2416P	L	+	2	0	ATM	107705115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.033000	0.88852	2.107000	0.64212	0.528000	0.53228	CTC	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	T	NM_000051	-		108199905	1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	SNP	1.000	C	C	108199905	T	C	108199905	3	2	164	1	0	0	0	0	1	0	0	0	1109	1551	54	5	7437	5	ATM	11	108199905	Missense_Mutation	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09	41008638	108199905	26806611	39	11666											
VWF	7450	genome.wustl.edu	37	chr12	6143852	6143852	+	Splice_Site	DEL	A	A	-													tccccatctccccacctctcAcctgcaccagaacgtactgg					rs61748487		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:6143852delA	ENST00000261405.5	-	20	2940		c.e20+1			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCACCTCTCACCTGCACCAG	0.587																																																	0			GRCh37	CS070406	VWF	S	rs61748487	ENSG00000110799						147	121	130					12																	6143852		2203	4300	6503	VWF	SO:0001630	splice_region_variant	0				HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2685+1T>-	12.37:g.6143852delA		Somatic	0	104	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	77	20.62	Q8TCE8|Q99806	Splice_Site	DEL							-	e19+2	ENST00000261405.5	37	c.2685+2	CCDS8539.1	12																																																																																			-	-		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	A	NM_000552		Intron	6143852	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	6143852	A	-	6143852	8	5	164	1	0	1	0	1	0	0	1	0	17253	173	6	0	5886	0	VWF	12	6143852	Splice_Site	DEL	A	TCGA-IW-A3M6-01A-11D-A21Q-09		6143852	127708043	40	11667	181	2									
VWF	7450	genome.wustl.edu	37	chr12	6143854	6143858	+	Splice_Site	DEL	CTGCA	CTGCA	-													cccatctccccacctctcacCtgcaccagaacgtactggca							TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CTGCA	CTGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:6143854_6143858delCTGCA	ENST00000261405.5	-	20	2935_2939	c.2681_2685delTGCAG	c.(2680-2685)gtgcag>g	p.VQ894fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	894	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACCTCTCACCTGCACCAGAACGTA	0.585																																																	0								ENSG00000110799																																			VWF	SO:0001630	splice_region_variant	0				HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2685+1TGCAG>-	12.37:g.6143854_6143858delCTGCA		Somatic					0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8TCE8|Q99806	Frame_Shift_Del	DEL							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.V894fs	ENST00000261405.5	37	c.2685_2681	CCDS8539.1	12																																																																																			-	pirsf_VWF,pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D		0.585	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	CTGCA	NM_000552		Frame_Shift_Del	6143858	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:0.796:0.801	-	-	6143858	CTGCA	-	6143854	8	5	164	1	0	1	0	1	0	0	1	0	17253	695	24	0	5888	0	VWF	12	6143854	Splice_Site	DEL	CTGCA	TCGA-IW-A3M6-01A-11D-A21Q-09	2	6143854	127708041	41	11668	181	2									
PDE3A	5139	genome.wustl.edu	37	chr12	20799442	20799444	+	In_Frame_Del	DEL	CCA	CCA	-													agatcataacagaatccatgCcactgatgttttacatgctg							TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CCA	CCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:20799442_20799444delCCA	ENST00000359062.3	+	11	2310_2312	c.2270_2272delCCA	c.(2269-2274)gccact>gct	p.T758del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	758	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGAATCCATGCCACTGATGTTTT	0.414																																																	0								ENSG00000172572																																			PDE3A	SO:0001651	inframe_deletion	0				HGNC		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2270_2272delCCA	12.37:g.20799442_20799444delCCA	ENSP00000351957:p.Thr758del	Somatic	0	48	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	O60865|Q13348|Q17RD1	In_Frame_Del	DEL							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.T758in_frame_del	ENST00000359062.3	37	c.2270_2272	CCDS31754.1	12																																																																																			-	smart_HD/PDEase_dom		0.414	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	protein_coding	OTTHUMT00000401756.2	CCA				20799444	1	no_errors	ENST00000359062	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	20799444	CCA	-	20799442	7	5	164	1	0	1	0	1	0	0	0	0	11639	739	26	0	2312	0	PDE3A	12	20799442	In_Frame_Del	DEL	CCA	TCGA-IW-A3M6-01A-11D-A21Q-09	14655588	20799442	113052453	42	11669											
BICD1	636	genome.wustl.edu	37	chr12	32369245	32369245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagactcgggaggaaaCgcttctgcaggagtcagcat	15	8	2	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:32369245C>T	ENST00000281474.5	+	2	381	c.278C>T	c.(277-279)aCg>aTg	p.T93M	BICD1_ENST00000548411.1_Missense_Mutation_p.T93M	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	93					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)			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)			CGGGAGGAAACGCTTCTGCAG	0.507																																																	0								ENSG00000151746						102	98	100					12																	32369245		2203	4300	6503	BICD1	SO:0001583	missense	0			-	HGNC	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.278C>T	12.37:g.32369245C>T	ENSP00000281474:p.Thr93Met	Somatic	0	74	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.20	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP							pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.T93M	ENST00000281474.5	37	c.278	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796057	0.90453	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.48201	0.82;0.82	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.917;0.988	T	0.72805	-0.4182	10	0.66056	D	0.02	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	93;93	F8W113;Q96G01	.;BICD1_HUMAN	M	93	ENSP00000446793:T93M;ENSP00000281474:T93M	ENSP00000281474:T93M	T	+	2	0	BICD1	32260512	1.000000	0.71417	0.946000	0.38457	0.883000	0.51084	7.589000	0.82641	2.603000	0.88011	0.655000	0.94253	ACG	-	pfam_Bicaudal-D_microtubule-assoc		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	protein_coding	OTTHUMT00000403380.1	C	NM_001714	-		32369245	1	no_errors	ENST00000281474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32369245	C	T	32369245	3	4	164	1	0	0	0	0	1	0	0	0	1428	536	19	1	284	1	BICD1	12	32369245	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	11569803	32369245	101482650	43	11670											
PCDH9	5101	genome.wustl.edu	37	chr13	67800272	67800282	+	Frame_Shift_Del	DEL	AAGCGTGTGCA	AAGCGTGTGCA	-													acataaaggaatacaagcacAagcgtgtgcaaagacttagg					rs142526541		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	AAGCGTGTGCA	AAGCGTGTGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr13:67800272_67800282delAAGCGTGTGCA	ENST00000377865.2	-	1	2425_2435	c.2291_2301delTGCACACGCTT	c.(2290-2301)ttgcacacgcttfs	p.LHTL764fs	PCDH9_ENST00000328454.5_Frame_Shift_Del_p.LHTL764fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.LHTL764fs|PCDH9_ENST00000544246.1_Frame_Shift_Del_p.LHTL764fs|PCDH9_ENST00000377861.3_Frame_Shift_Del_p.LHTL764fs			Q9HC56	PCDH9_HUMAN	protocadherin 9	764	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATACAAGCACAAGCGTGTGCAAAGACTTAGG	0.46																																																	0								ENSG00000184226																																			PCDH9	SO:0001589	frameshift_variant	0				HGNC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2291_2301delTGCACACGCTT	13.37:g.67800272_67800282delAAGCGTGTGCA	ENSP00000367096:p.Leu764fs	Somatic					0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Frame_Shift_Del	DEL							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L764fs	ENST00000377865.2	37	c.2301_2291	CCDS9444.1	13																																																																																			-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.46	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	protein_coding	OTTHUMT00000276387.1	AAGCGTGTGCA	NM_203487			67800282	-1	no_errors	ENST00000377865	ensembl	human	known	74_37	frame_shift_del	DEL	0.015:0.996:0.997:0.267:0.988:1.000:1.000:1.000:1.000:1.000:1.000	-	-	67800282	AAGCGTGTGCA	-	67800272	7	5	164	1	0	1	0	1	0	0	0	0	11520	117	5	0	1428	0	PCDH9	13	67800272	Frame_Shift_Del	DEL	AAGCGTGTGCA	TCGA-IW-A3M6-01A-11D-A21Q-09		67800272	47369606	44	11671											
GABRB3	2562	genome.wustl.edu	37	chr15	26793096	26793096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagatgggtcttcttgtgCgggaggcttctgtcccccag	14	11	3	1	rs377621777		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr15:26793096C>T	ENST00000311550.5	-	9	1377	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	GABRB3_ENST00000545868.1_Silent_p.P337P|GABRB3_ENST00000299267.4_Silent_p.P422P|GABRB3_ENST00000400188.3_Silent_p.P351P|GABRB3_ENST00000541819.2_Silent_p.P478P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	422					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|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)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTCTTGTGCGGGAGGCTTC	0.493																																																	0								ENSG00000166206	C	,,,	1,4405	2.1+/-5.4	0,1,2202	86	75	78		1266,1011,1053,1266	0.2	1	15		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	422/474,337/389,351/403,422/474	26793096	1,13005	2203	4300	6503	GABRB3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1266G>A	15.37:g.26793096C>T		Somatic	0	40	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P422	ENST00000311550.5	37	c.1266	CCDS10019.1	15																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	protein_coding	OTTHUMT00000251352.2	C		-		26793096	-1	no_errors	ENST00000299267	ensembl	human	known	74_37	silent	SNP	0.973	T	T	26793096	C	T	26793096	2	4	164	1	0	0	0	0	0	0	0	1	6170	755	27	1		1	GABRB3	15	26793096	Silent	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09		26793096	75738296	45	11672											
GOLGA6D	653643	genome.wustl.edu	37	chr15	75585465	75585465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggcgcctcggcccaCgccaaacatcccagaggacc	13	16	0	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr15:75585465C>T	ENST00000434739.3	+	14	1594	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	518						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CCTCGGCCCACGCCAAACATC	0.637																																																	0								ENSG00000140478						1	1	1					15																	75585465		23	275	298	GOLGA6D	SO:0001583	missense	0			-	HGNC		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1553C>T	15.37:g.75585465C>T	ENSP00000391085:p.Thr518Met	Somatic	0	100	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	63	17.11		Missense_Mutation	SNP							NULL	p.T518M	ENST00000434739.3	37	c.1553	CCDS45308.1	15	.	.	.	.	.	.	.	.	.	.	C	0	-2.782293	0.00079	.	.	ENSG00000140478	ENST00000434739	T	0.22134	1.97	1.56	-3.02	0.05446	.	.	.	.	.	T	0.02807	0.0084	N	0.00058	-2.35	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37009	-0.9724	9	0.35671	T	0.21	.	1.0073	0.01489	0.2392:0.3993:0.1651:0.1964	.	518	P0CG33	GOG6D_HUMAN	M	518	ENSP00000391085:T518M	ENSP00000391085:T518M	T	+	2	0	GOLGA6D	73372518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.245000	0.18142	-0.846000	0.04174	-1.169000	0.01745	ACG	-	NULL		0.637	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	protein_coding	OTTHUMT00000419798.1	C	NM_001145224	-		75585465	1	no_errors	ENST00000434739	ensembl	human	known	74_37	missense	SNP	0.000	T	T	75585465	C	T	75585465	3	4	164	1	0	0	0	0	1	0	0	0	6562	536	19	1	1607	1	GOLGA6D	15	75585465	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	48792369	75585465	26945927	46	11673											
DDX19B	11269	genome.wustl.edu	37	chr16	70363935	70363935	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttgtgtaacctctacggGgccatcaccattgctcaagc	9	14	3	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr16:70363935G>T	ENST00000288071.6	+	9	1232	c.987G>T	c.(985-987)ggG>ggT	p.G329G	DDX19B_ENST00000451014.3_Silent_p.G303G|DDX19B_ENST00000355992.3_Silent_p.G298G|DDX19B_ENST00000393657.2_Silent_p.G220G|DDX19B_ENST00000568625.1_Silent_p.G220G|DDX19B_ENST00000563392.1_Silent_p.G220G|DDX19B_ENST00000563206.1_Silent_p.G334G|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	329	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ACCTCTACGGGGCCATCACCA	0.572																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0								ENSG00000157349						157	126	136					16																	70363935		2198	4298	6496	DDX19B	SO:0001819	synonymous_variant	0			-	HGNC	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.987G>T	16.37:g.70363935G>T		Somatic	0	103	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	66	29.79	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G329	ENST00000288071.6	37	c.987	CCDS10888.1	16																																																																																			-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.572	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	protein_coding	OTTHUMT00000268965.3	G	NM_007242	-		70363935	1	no_errors	ENST00000288071	ensembl	human	known	74_37	silent	SNP	1.000	T	T	70363935	G	T	70363935	2	4	164	1	0	0	0	0	0	0	0	1	4349	1219	43	3		3	DDX19B	16	70363935	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09		70363935	19990818	47	11674											
HYDIN	54768	genome.wustl.edu	37	chr16	71113818	71113818	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcaccaaagtgcagagctgGaacattaaaatggaaggtag	11	6	1	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr16:71113818G>T	ENST00000393567.2	-	13	1858	c.1708C>A	c.(1708-1710)Cca>Aca	p.P570T	HYDIN_ENST00000321489.5_Missense_Mutation_p.P570T|HYDIN_ENST00000288168.10_Missense_Mutation_p.P587T|HYDIN_ENST00000448089.2_Missense_Mutation_p.P570T|HYDIN_ENST00000543639.1_5'UTR|RP11-23E19.1_ENST00000568931.1_RNA|HYDIN_ENST00000538248.1_Missense_Mutation_p.P597T|RP11-23E19.1_ENST00000563968.1_RNA|HYDIN_ENST00000393550.2_Missense_Mutation_p.P570T|HYDIN_ENST00000448691.1_Missense_Mutation_p.P570T|HYDIN_ENST00000541601.1_Missense_Mutation_p.P587T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	570					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)				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)				TGCAGAGCTGGAACATTAAAA	0.428																																																	0								ENSG00000157423						35	33	34					16																	71113818		2196	4297	6493	HYDIN	SO:0001583	missense	0			-	HGNC	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.1708C>A	16.37:g.71113818G>T	ENSP00000377197:p.Pro570Thr	Somatic	0	28	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_PapD-like	p.P570T	ENST00000393567.2	37	c.1708	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350184	0.41599	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.14391	5.57;3.71;3.72;3.72;3.7;3.68;3.34;2.51	4.73	4.73	0.59995	.	0.000000	0.33023	U	0.005372	T	0.34716	0.0907	M	0.69248	2.105	0.45161	D	0.998176	P;P;B;P;D	0.89917	0.754;0.754;0.34;0.754;1.0	P;P;B;B;D	0.87578	0.493;0.493;0.17;0.425;0.998	T	0.05582	-1.0876	10	0.19147	T	0.46	.	17.7056	0.88308	0.0:0.0:1.0:0.0	.	597;587;587;570;570	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	570;570;570;570;570;597;587;587;570	ENSP00000377197:P570T;ENSP00000398544:P570T;ENSP00000394826:P570T;ENSP00000314736:P570T;ENSP00000444970:P597T;ENSP00000437341:P587T;ENSP00000288168:P587T;ENSP00000377181:P570T	ENSP00000288168:P587T	P	-	1	0	HYDIN	69671319	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.090000	0.64498	2.362000	0.80069	0.499000	0.49734	CCA	-	NULL		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G		-		71113818	-1	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71113818	G	T	71113818	3	4	164	1	0	0	0	0	1	0	0	0	7469	1174	41	3	13962	3	HYDIN	16	71113818	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	749883	71113818	19240935	48	11675											
CDK12	51755	genome.wustl.edu	37	chr17	37627390	37627390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagagaacagttcagtAgaggctaaggattcaggttt	12	4	2	3			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:37627390A>G	ENST00000447079.4	+	2	1338	c.1305A>G	c.(1303-1305)gtA>gtG	p.V435V	CDK12_ENST00000430627.2_Silent_p.V435V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	435					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACAGTTCAGTAGAGGCTAAGG	0.418			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0								ENSG00000167258						70	71	70					17																	37627390		2203	4300	6503	CDK12	SO:0001819	synonymous_variant	0			-	HGNC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1305A>G	17.37:g.37627390A>G		Somatic	0	32	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V435	ENST00000447079.4	37	c.1305	CCDS11337.1	17																																																																																			-	NULL		0.418	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	protein_coding	OTTHUMT00000256941.4	A	NM_016507	-		37627390	1	no_errors	ENST00000447079	ensembl	human	known	74_37	silent	SNP	0.931	G	G	37627390	A	G	37627390	2	3	164	1	0	0	0	0	0	0	0	1	3130	407	15	5		5	CDK12	17	37627390	Silent	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09		37627390	43567820	49	11676											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47117380	47117380	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcagtgtgcactccAcccctgagggctgctcctcc	9	17	1	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:47117380A>T	ENST00000290341.3	+	7	1079	c.745A>T	c.(745-747)Acc>Tcc	p.T249S	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	249	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTGCACTCCACCCCTGAGGG	0.512																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0								ENSG00000159217						164	149	154					17																	47117380		2203	4300	6503	IGF2BP1	SO:0001583	missense	0			-	HGNC	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.745A>T	17.37:g.47117380A>T	ENSP00000290341:p.Thr249Ser	Somatic	0	34	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	C9JT33	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.T249S	ENST00000290341.3	37	c.745	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155413	0.57259	.	.	ENSG00000159217	ENST00000290341	T	0.29917	1.55	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.109676	0.64402	D	0.000009	T	0.21022	0.0506	N	0.16602	0.42	0.80722	D	1	B	0.19935	0.04	B	0.24006	0.05	T	0.07908	-1.0748	10	0.19147	T	0.46	-40.3288	14.8734	0.70478	1.0:0.0:0.0:0.0	.	249	Q9NZI8	IF2B1_HUMAN	S	249	ENSP00000290341:T249S	ENSP00000290341:T249S	T	+	1	0	IGF2BP1	44472379	1.000000	0.71417	0.953000	0.39169	0.873000	0.50193	7.508000	0.81686	2.146000	0.66826	0.533000	0.62120	ACC	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.512	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	A	NM_006546	-		47117380	1	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	SNP	0.998	T	T	47117380	A	T	47117380	3	4	164	1	0	0	0	0	1	0	0	0	7575	159	6	5	771	5	IGF2BP1	17	47117380	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	9489990	47117380	34077830	50	11677											
XYLT2	64132	genome.wustl.edu	37	chr17	48434025	48434025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctacgacgcggctgatGgccccagtgggctcagtgat	13	13	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:48434025G>A	ENST00000017003.2	+	8	1685	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S	XYLT2_ENST00000507602.1_Missense_Mutation_p.G546S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	546					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CGCGGCTGATGGCCCCAGTGG	0.647																																																	0								ENSG00000015532						70	77	74					17																	48434025		2203	4300	6503	XYLT2	SO:0001583	missense	0			-	HGNC	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1636G>A	17.37:g.48434025G>A	ENSP00000017003:p.Gly546Ser	Somatic	0	27	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q6UY41|Q86V00	Missense_Mutation	SNP							pfam_XylT,pfam_Glyco_trans_14	p.G546S	ENST00000017003.2	37	c.1636	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569955	0.65765	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.44482	0.92;0.92	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	D	0.69307	0.963	T	0.61282	-0.7094	10	0.30854	T	0.27	-30.4619	18.2647	0.90049	0.0:0.0:1.0:0.0	.	546	Q9H1B5	XYLT2_HUMAN	S	546	ENSP00000017003:G546S;ENSP00000426501:G546S	ENSP00000017003:G546S	G	+	1	0	XYLT2	45789024	1.000000	0.71417	0.981000	0.43875	0.457000	0.32468	4.675000	0.61619	2.549000	0.85964	0.563000	0.77884	GGC	-	pfam_XylT		0.647	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	protein_coding	OTTHUMT00000367046.1	G	NM_022167	-		48434025	1	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48434025	G	A	48434025	3	1	164	1	0	0	0	0	1	0	0	0	17471	1348	47	2	1666	2	XYLT2	17	48434025	Missense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	1316645	48434025	32761185	51	11678											
LRRC59	55379	genome.wustl.edu	37	chr17	48460388	48460388	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggaggacccactggaggatCtcatggcggcgtagaccctg	15	11	1	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:48460388C>G	ENST00000225972.7	-	7	1120	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	295						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ACTGGAGGATCTCATGGCGGC	0.592																																																	0								ENSG00000108829						83	72	76					17																	48460388		2203	4300	6503	LRRC59	SO:0001583	missense	0			-	HGNC	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.885G>C	17.37:g.48460388C>G	ENSP00000225972:p.Glu295Asp	Somatic	0	53	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E295D	ENST00000225972.7	37	c.885	CCDS11566.1	17	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596325	0.28445	.	.	ENSG00000108829	ENST00000225972	T	0.44083	0.93	5.98	1.4	0.22301	.	0.645972	0.16970	N	0.192157	T	0.20740	0.0499	N	0.21448	0.665	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07385	-1.0775	10	0.14656	T	0.56	.	2.6736	0.05075	0.1442:0.2224:0.495:0.1383	.	295	Q96AG4	LRC59_HUMAN	D	295	ENSP00000225972:E295D	ENSP00000225972:E295D	E	-	3	2	LRRC59	45815387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.779000	0.26746	0.884000	0.36064	0.591000	0.81541	GAG	-	NULL		0.592	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC59	protein_coding	OTTHUMT00000367117.2	C	NM_018509	-		48460388	-1	no_errors	ENST00000225972	ensembl	human	known	74_37	missense	SNP	0.997	G	G	48460388	C	G	48460388	3	3	164	1	0	0	0	0	1	0	0	0	9017	912	32	4	42	4	LRRC59	17	48460388	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	26363	48460388	32734822	52	11679											
MTMR4	9110	genome.wustl.edu	37	chr17	56584179	56584179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgcatccaggatcagcaGcttttgaggagctgctgtgc	13	11	1	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:56584179G>A	ENST00000323456.5	-	10	1040	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	MTMR4_ENST00000579925.1_Silent_p.L306L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	306	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATCAGCAGCTTTTGAGGA	0.567																																																	0								ENSG00000108389						61	57	59					17																	56584179		2203	4300	6503	MTMR4	SO:0001819	synonymous_variant	0			-	HGNC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.916C>T	17.37:g.56584179G>A		Somatic	0	24	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP							pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.L306	ENST00000323456.5	37	c.916	CCDS11608.1	17																																																																																			-	pfam_Myotubularin-like_Pase_dom		0.567	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	protein_coding	OTTHUMT00000444721.1	G	NM_004687	-		56584179	-1	no_errors	ENST00000323456	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56584179	G	A	56584179	2	1	164	1	0	0	0	0	0	0	0	1	9948	962	34	2		2	MTMR4	17	56584179	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	8123791	56584179	24611031	53	11680											
ITGB4	3691	genome.wustl.edu	37	chr17	73748323	73748323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgctgcttattgagaacCttcgggagtcccagccctac	11	12	0	1			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:73748323C>T	ENST00000200181.3	+	31	4049	c.3862C>T	c.(3862-3864)Ctt>Ttt	p.L1288F	ITGB4_ENST00000450894.3_Missense_Mutation_p.L1288F|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.L1288F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L1288F|ITGB4_ENST00000339591.3_Missense_Mutation_p.L1288F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1288	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATTGAGAACCTTCGGGAGTC	0.617																																																	0								ENSG00000132470						141	136	138					17																	73748323		2203	4300	6503	ITGB4	SO:0001583	missense	0			-	HGNC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3862C>T	17.37:g.73748323C>T	ENSP00000200181:p.Leu1288Phe	Somatic	0	23	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP							pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.L1288F	ENST00000200181.3	37	c.3862	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394735	0.42512	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.84873	-1.91;-1.91;-1.91	5.07	3.07	0.35406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.92427	0.7596	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.91678	0.5356	10	0.87932	D	0	.	9.4858	0.38928	0.0:0.7709:0.0:0.2291	.	1288;1288;1288	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	F	1288	ENSP00000200181:L1288F;ENSP00000344079:L1288F;ENSP00000400217:L1288F	ENSP00000200181:L1288F	L	+	1	0	ITGB4	71259918	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	2.747000	0.47475	0.534000	0.28695	0.561000	0.74099	CTT	-	pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	protein_coding	OTTHUMT00000448334.1	C		-		73748323	1	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73748323	C	T	73748323	3	4	164	1	0	0	0	0	1	0	0	0	7899	681	24	2	3980	2	ITGB4	17	73748323	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	17164144	73748323	7446887	54	11681											
TMEM146	257062	genome.wustl.edu	37	chr19	5745969	5745979	+	Frame_Shift_Del	DEL	CTGTCTTTTGA	CTGTCTTTTGA	-													ccctcaaccggagtttcgggCtgtcttttgactataatggg					rs200681020		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CTGTCTTTTGA	CTGTCTTTTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:5745969_5745979delCTGTCTTTTGA	ENST00000381624.3	+	9	764_774	c.703_713delCTGTCTTTTGA	c.(703-714)ctgtcttttgacfs	p.LSFD235fs	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	235					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GAGTTTCGGGCTGTCTTTTGACTATAATGGG	0.526																																																	0								ENSG00000174898																																			CATSPERD	SO:0001589	frameshift_variant	0				HGNC	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.703_713delCTGTCTTTTGA	19.37:g.5745969_5745979delCTGTCTTTTGA	ENSP00000371037:p.Leu235fs	Somatic					0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6ZRP1	Frame_Shift_Del	DEL							superfamily_WD40_repeat_dom	p.S236fs	ENST00000381624.3	37	c.703_713	CCDS12149.2	19																																																																																			-	superfamily_WD40_repeat_dom		0.526	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	protein_coding	OTTHUMT00000286953.2	CTGTCTTTTGA	NM_152784			5745979	1	no_errors	ENST00000381624	ensembl	human	known	74_37	frame_shift_del	DEL	0.018:0.019:0.007:0.005:0.038:0.040:0.055:0.053:0.027:0.013:0.011	-	-	5745979	CTGTCTTTTGA	-	5745969	7	5	164	1	0	1	0	1	0	0	0	0	16067	796	28	0	737	0	TMEM146	19	5745969	Frame_Shift_Del	DEL	CTGTCTTTTGA	TCGA-IW-A3M6-01A-11D-A21Q-09		5745969	53383014	55	11682											
LSR	51599	genome.wustl.edu	37	chr19	35758744	35758744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacttggccctgagtcgGgaaagtttagtcgtctgatc	12	9	1	3			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:35758744G>A	ENST00000361790.3	+	10	2091	c.1932G>A	c.(1930-1932)cgG>cgA	p.R644R	LSR_ENST00000602122.1_Silent_p.R624R|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000360798.3_Silent_p.R576R|LSR_ENST00000354900.3_Silent_p.R625R|LSR_ENST00000347609.4_Silent_p.R586R|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000427250.1_Silent_p.R488R	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	644					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTGAGTCGGGAAAGTTTAG	0.542																																																	0								ENSG00000105699						145	154	151					19																	35758744		2203	4300	6503	LSR	SO:0001819	synonymous_variant	0			-	HGNC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1932G>A	19.37:g.35758744G>A		Somatic	0	103	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP							pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.R644	ENST00000361790.3	37	c.1932	CCDS12450.1	19																																																																																			-	NULL		0.542	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	protein_coding	OTTHUMT00000465513.2	G	NM_015925	-		35758744	1	no_errors	ENST00000361790	ensembl	human	known	74_37	silent	SNP	0.991	A	A	35758744	G	A	35758744	2	1	164	1	0	0	0	0	0	0	0	1	9066	1219	43	2		2	LSR	19	35758744	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	30012775	35758744	23370239	56	11683											
ZNF230	7773	genome.wustl.edu	37	chr19	44514834	44514835	+	Frame_Shift_Ins	INS	-	-	C													ctcatgtctgcaaactcgtgINSagagagtccacactggagag					rs202000510		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:44514834_44514835insC	ENST00000429154.2	+	5	871_872	c.643_644insC	c.(643-645)gagfs	p.E215fs		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	215					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)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GCAAACTCGTGAGAGAGTCCAC	0.446																																					GBM(175;914 2069 22996 47111 52600)												0								ENSG00000159882																																			ZNF230	SO:0001589	frameshift_variant	0				HGNC	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		Exception_encountered	19.37:g.44514834_44514835insC	ENSP00000409318:p.Glu215fs	Somatic	0	136	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	63	37.62	O15322|Q504X7|Q86W84|Q9P1U6	Frame_Shift_Ins	INS							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E215fs	ENST00000429154.2	37	c.643_644	CCDS33044.1	19																																																																																			-	pfscan_Znf_C2H2		0.446	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	protein_coding	OTTHUMT00000460456.1	-				44514835	1	no_errors	ENST00000429154	ensembl	human	known	74_37	frame_shift_ins	INS	0.009:0.003	C	C	44514835	-	C	44514834	7	5	164	1	0	1	1	0	0	0	0	0	17791	1291	45	0	657	0	ZNF230	19	44514834	Frame_Shift_Ins	INS	-	TCGA-IW-A3M6-01A-11D-A21Q-09	8756090	44514834	14614149	57	11684											
ZNF534	147658	genome.wustl.edu	37	chr19	52938381	52938381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgttggagcaaaagAgagatccctggactctgcag	11	11	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:52938381A>G	ENST00000332323.6	+	3	290	c.229A>G	c.(229-231)Aga>Gga	p.R77G	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Missense_Mutation_p.R64G|ZNF534_ENST00000433050.1_Missense_Mutation_p.R64G	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	77	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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGCAAAAGAGAGATCCCTG	0.453																																																	0								ENSG00000198633						125	103	110					19																	52938381		1568	3582	5150	ZNF534	SO:0001583	missense	0			-	HGNC	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.229A>G	19.37:g.52938381A>G	ENSP00000327538:p.Arg77Gly	Somatic	0	100	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	78	17.89	Q76KX9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R77G	ENST00000332323.6	37	c.229	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	A	3.276	-0.148153	0.06627	.	.	ENSG00000198633	ENST00000301085;ENST00000332323;ENST00000433050;ENST00000391790	T;T;T	0.07021	5.65;3.23;3.26	1.67	-0.688	0.11317	Krueppel-associated box (2);	.	.	.	.	T	0.04998	0.0134	N	0.17631	0.505	0.09310	N	1	B;B;B	0.21309	0.054;0.0;0.025	B;B;B	0.17098	0.005;0.0;0.017	T	0.39143	-0.9628	9	0.87932	D	0	.	4.1159	0.10081	0.4699:0.0:0.5301:0.0	.	64;77;64	Q76KX8-2;Q76KX8;Q1T7F5	.;ZN534_HUMAN;.	G	64;77;64;76	ENSP00000301085:R64G;ENSP00000327538:R77G;ENSP00000391358:R64G	ENSP00000301085:R64G	R	+	1	2	ZNF534	57630193	0.039000	0.19947	0.002000	0.10522	0.027000	0.11550	-0.038000	0.12144	-0.081000	0.12662	0.338000	0.21704	AGA	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.453	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	protein_coding	OTTHUMT00000460877.1	A	NM_182512	-		52938381	1	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	SNP	0.000	G	G	52938381	A	G	52938381	3	3	164	1	0	0	0	0	1	0	0	0	17980	296	11	5	239	5	ZNF534	19	52938381	Missense_Mutation	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09	8423547	52938381	6190602	58	11685											
YWHAB	7529	genome.wustl.edu	37	chr20	43532648	43532648	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggagctgttggacaaAtatcttattcccaatgctac	7	8	1	0			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr20:43532648A>G	ENST00000372839.3	+	4	589	c.315A>G	c.(313-315)aaA>aaG	p.K105K	YWHAB_ENST00000353703.4_Silent_p.K105K|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	105					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGTTGGACAAATATCTTATTC	0.328																																																	0								ENSG00000166913						86	85	85					20																	43532648		2203	4299	6502	YWHAB	SO:0001819	synonymous_variant	0			-	HGNC	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.315A>G	20.37:g.43532648A>G		Somatic	0	65	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	41	46.05	A8K9K2|E1P616	Silent	SNP							pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.K105	ENST00000372839.3	37	c.315	CCDS13339.1	20																																																																																			-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.328	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	protein_coding	OTTHUMT00000079386.3	A	NM_003404	-		43532648	1	no_errors	ENST00000353703	ensembl	human	known	74_37	silent	SNP	1.000	G	G	43532648	A	G	43532648	2	3	164	1	0	0	0	0	0	0	0	1	17508	98	4	5		5	YWHAB	20	43532648	Silent	SNP	A	TCGA-IW-A3M6-01A-11D-A21Q-09		43532648	19492872	59	11686											
RSPH1	89765	genome.wustl.edu	37	chr21	43905819	43905819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacctgtggttcaggTgaatgagctcggccgtgccc	14	12	1	2			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr21:43905819T>C	ENST00000291536.3	-	5	628	c.461A>G	c.(460-462)cAc>cGc	p.H154R	RSPH1_ENST00000398352.3_Missense_Mutation_p.H116R	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	154					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTGGTTCAGGTGAATGAGCTC	0.522																																					Esophageal Squamous(23;63 706 6286 10288 12913)												0								ENSG00000160188						153	132	139					21																	43905819		2203	4300	6503	RSPH1	SO:0001583	missense	0			-	HGNC	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.461A>G	21.37:g.43905819T>C	ENSP00000291536:p.His154Arg	Somatic	0	47	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	21	48.78	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP							pfam_MORN,smart_MORN	p.H154R	ENST00000291536.3	37	c.461	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289439	0.80914	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.43688	0.94;0.95	4.99	4.99	0.66335	.	0.098668	0.64402	D	0.000001	T	0.66567	0.2802	M	0.87971	2.92	0.41794	D	0.989889	D	0.76494	0.999	D	0.63488	0.915	T	0.73017	-0.4115	10	0.51188	T	0.08	.	14.9985	0.71451	0.0:0.0:0.0:1.0	.	154	Q8WYR4	RSPH1_HUMAN	R	154;116	ENSP00000291536:H154R;ENSP00000381395:H116R	ENSP00000291536:H154R	H	-	2	0	RSPH1	42778888	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.306000	0.65756	2.023000	0.59567	0.459000	0.35465	CAC	-	smart_MORN		0.522	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	protein_coding	OTTHUMT00000195379.1	T		-		43905819	-1	no_errors	ENST00000291536	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43905819	T	C	43905819	3	2	164	1	0	0	0	0	1	0	0	0	13710	1696	59	5	488	5	RSPH1	21	43905819	Missense_Mutation	SNP	T	TCGA-IW-A3M6-01A-11D-A21Q-09		43905819	4224076	60	11687											
SLC19A1	6573	genome.wustl.edu	37	chr21	46951894	46951894	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaagagctccatgagctGcatgtgcgccaccgagtggc	14	11	0	3			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr21:46951894G>A	ENST00000311124.4	-	3	510	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.Q120*|SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.Q80*|SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.Q120*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	120					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	TCCATGAGCTGCATGTGCGCC	0.657																																																	0								ENSG00000173638						24	26	25					21																	46951894		2198	4300	6498	SLC19A1	SO:0001587	stop_gained	0			-	HGNC	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.358C>T	21.37:g.46951894G>A	ENSP00000308895:p.Gln120*	Somatic	0	30	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Nonsense_Mutation	SNP							pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.Q120*	ENST00000311124.4	37	c.358	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.301444	0.95601	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.8439	17.1012	0.86651	0.0:0.0:1.0:0.0	.	.	.	.	X	120;120;80;120;120	.	ENSP00000308895:Q120X	Q	-	1	0	SLC19A1	45776322	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	9.327000	0.96396	2.460000	0.83146	0.462000	0.41574	CAG	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.657	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	protein_coding	OTTHUMT00000206796.1	G		-		46951894	-1	no_errors	ENST00000311124	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	46951894	G	A	46951894	4	1	164	1	0	0	0	0	0	1	0	0	14436	1328	46	2	1433	2	SLC19A1	21	46951894	Nonsense_Mutation	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09	3046075	46951894	1178001	61	11688											
ATXN3L	92552	genome.wustl.edu	37	chrX	13337121	13337121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttgttgttggcctttcGtgtaggtatgaactgtggcc	13	7	0	1	rs373799323		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chrX:13337121G>A	ENST00000380622.2	-	1	1397	c.933C>T	c.(931-933)caC>caT	p.H311H	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	311					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGGCCTTTCGTGTAGGTATG	0.448																																																	0								ENSG00000123594						186	150	161					X																	13337121		1568	3582	5150	ATXN3L	SO:0001819	synonymous_variant	0			-	HGNC		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.933C>T	X.37:g.13337121G>A		Somatic	0	148	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	90	23.73	B2RNY8	Silent	SNP							pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif	p.H311	ENST00000380622.2	37	c.933	CCDS48080.1	X																																																																																			-	prints_Josephin		0.448	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	protein_coding	OTTHUMT00000055785.2	G	NM_001135995	-		13337121	-1	no_errors	ENST00000380622	ensembl	human	known	74_37	silent	SNP	0.001	A	A	13337121	G	A	13337121	2	1	164	1	0	0	0	0	0	0	0	1	1214	1136	40	1		1	ATXN3L	23	13337121	Silent	SNP	G	TCGA-IW-A3M6-01A-11D-A21Q-09		13337121	141933439	62	11689											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350728	50350729	+	In_Frame_Ins	INS	-	-	TCC													cttcctcttcttcttcttctINStcctcctcctcctcctcctc					rs6614552|rs375199494|rs143151534		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chrX:50350728_50350729insTCC	ENST00000289292.7	-	6	3696_3697	c.3413_3414insGGA	c.(3412-3414)gaa>gaGGAa	p.1138_1138E>EE	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1138_1138E>EE|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1022_1022E>EE			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1138	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cttcttcttcttcctcctcctc	0.559														968	0.256424	0.1286	0.1614	3775	,	,		11689	0.1885		0.2127	False		,,,				2504	0.2883																0								ENSG00000158352																																			SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3411_3413dupGGA	X.37:g.50350735_50350737dupTCC	ENSP00000289292:p.Glu1151dup	Somatic	0	17	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1142in_frame_insE	ENST00000289292.7	37	c.3414_3413	CCDS35277.1	X																																																																																			-	NULL		0.559	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350729	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TCC	TCC	50350729	-	TCC	50350728	7	5	164	1	0	1	1	0	0	0	0	0	14304	1606	56	0	1083	0	SHROOM4	23	50350728	In_Frame_Ins	INS	-	TCGA-IW-A3M6-01A-11D-A21Q-09	37013607	50350728	104919832	63	11690											
NUDT10	170685	genome.wustl.edu	37	chrX	51076293	51076293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactccatggccccatcctCgccagatagcgatccctagt	7	16	0	1	rs140448074	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chrX:51076293C>T	ENST00000376006.3	+	2	696	c.476C>T	c.(475-477)tCg>tTg	p.S159L	NUDT10_ENST00000356450.2_Missense_Mutation_p.S159L	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GCCCCATCCTCGCCAGATAGC	0.552																																					NSCLC(90;1817 2035 37909 38249)												0								ENSG00000122824	C	LEU/SER	1,3834		0,0,1,1632,570	50	51	51		476	-3.2	0	X	dbSNP_134	51	0,6728		0,0,0,2428,1872	no	missense	NUDT10	NM_153183.2	145	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	benign	159/165	51076293	1,10562	2203	4300	6503	NUDT10	SO:0001583	missense	0			-	HGNC	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.476C>T	X.37:g.51076293C>T	ENSP00000365174:p.Ser159Leu	Somatic	0	51	0		0.693345879783679				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	22	51.11	Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.S159L	ENST00000376006.3	37	c.476	CCDS35278.1	X	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098597	0.07010	2.61E-4	0.0	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.28255	1.62;1.62	3.14	-3.24	0.05094	.	0.827327	0.10897	N	0.622018	T	0.07863	0.0197	N	0.00926	-1.1	0.25088	N	0.990875	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	9	0.07990	T	0.79	-36.1108	8.7971	0.34885	0.0:0.5866:0.0:0.4134	.	159	Q8NFP7	NUD10_HUMAN	L	159	ENSP00000365174:S159L;ENSP00000348831:S159L	ENSP00000348831:S159L	S	+	2	0	NUDT10	51093033	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.176000	0.16782	-0.956000	0.03631	-0.435000	0.05868	TCG	-	NULL		0.552	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	protein_coding	OTTHUMT00000056578.1	C	NM_153183	rs140448074		51076293	1	no_errors	ENST00000356450	ensembl	human	known	74_37	missense	SNP	0.001	T	T	51076293	C	T	51076293	3	4	164	1	0	0	0	0	1	0	0	0	10728	893	31	1	478	1	NUDT10	23	51076293	Missense_Mutation	SNP	C	TCGA-IW-A3M6-01A-11D-A21Q-09	725565	51076293	104194267	64	11691											
SLC6A17	388662	genome.wustl.edu	37	chr1	110717458	110717458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacttctggtaccgagaggCcttggacatctctgactcca	9	13	2	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr1:110717458C>T	ENST00000331565.4	+	5	1114	c.629C>T	c.(628-630)gCc>gTc	p.A210V	RP5-1028L10.2_ENST00000440688.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	210					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TACCGAGAGGCCTTGGACATC	0.582																																																	0								ENSG00000197106						111	97	102					1																	110717458		2203	4300	6503	SLC6A17	SO:0001583	missense	0			-	HGNC		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.629C>T	1.37:g.110717458C>T	ENSP00000330199:p.Ala210Val	Somatic	0	53	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.A210V	ENST00000331565.4	37	c.629	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.448389	0.96205	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.71817	-0.6	5.27	5.27	0.74061	.	0.097447	0.64402	D	0.000001	T	0.66781	0.2824	N	0.12746	0.255	0.58432	D	0.999993	D	0.63046	0.992	D	0.65773	0.938	T	0.75025	-0.3463	10	0.72032	D	0.01	.	19.2447	0.93898	0.0:1.0:0.0:0.0	.	210	Q9H1V8	S6A17_HUMAN	V	210	ENSP00000330199:A210V	ENSP00000330199:A210V	A	+	2	0	SLC6A17	110518981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.614000	0.88457	0.655000	0.94253	GCC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan		0.582	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	protein_coding	OTTHUMT00000032550.2	C	XM_371280	-		110717458	1	no_errors	ENST00000331565	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110717458	C	T	110717458	3	4	165	1	0	0	0	0	1	0	0	0	14688	739	26	2	643	2	SLC6A17	1	110717458	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09		110717458	138533163	1	11692											
OR2T8	343172	genome.wustl.edu	37	chr1	248084781	248084781	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggtgcagctgacggGctcctgcaggctgttgctac	14	13	0	1	rs150530326	byFrequency	TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr1:248084781G>C	ENST00000319968.4	+	1	462	c.462G>C	c.(460-462)ggG>ggC	p.G154G		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGCTGACGGGCTCCTGCAGG	0.597													g|||	9	0.00179712	0.0068	0	5008	,	,		8104	0		0	False		,,,				2504	0																0								ENSG00000177462	C		447,3777		22,403,1687	13	9	11		462	-6.8	0	1	dbSNP_134	11	340,8076		4,332,3872	no	coding-synonymous	OR2T8	NM_001005522.1		26,735,5559	CC,CG,GG		4.0399,10.5824,6.2263		154/313	248084781	787,11853	2112	4208	6320	OR2T8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.462G>C	1.37:g.248084781G>C		Somatic	0	18	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G154	ENST00000319968.4	37	c.462	CCDS31100.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	protein_coding	OTTHUMT00000096862.1	G	NM_001005522	rs150530326		248084781	1	no_errors	ENST00000319968	ensembl	human	known	74_37	silent	SNP	0.000	C	C	248084781	G	C	248084781	2	2	165	1	0	0	0	0	0	0	0	1	11032	1190	42	4		4	OR2T8	1	248084781	Silent	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	137367323	248084781	1165840	2	11693											
STON1	11037	genome.wustl.edu	37	chr2	48822428	48822428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagataaaattggtgactGcataactcagtaggagtagc	10	8	1	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr2:48822428G>T	ENST00000406226.1	+	5	2390	c.2195G>T	c.(2194-2196)tGc>tTc	p.C732F	STON1_ENST00000309835.3_Missense_Mutation_p.C732F|STON1_ENST00000404752.1_Missense_Mutation_p.C732F|STON1-GTF2A1L_ENST00000394754.1_Intron|STON1-GTF2A1L_ENST00000309827.2_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	732					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGGTGACTGCATAACTCAG	0.388																																																	0								ENSG00000243244						128	115	119					2																	48822428		2203	4300	6503	STON1	SO:0001583	missense	0			-	HGNC	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.2195G>T	2.37:g.48822428G>T	ENSP00000384615:p.Cys732Phe	Somatic	0	49	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	39.06	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP							pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.C732F	ENST00000406226.1	37	c.2195	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275892	0.80580	.	.	ENSG00000243244	ENST00000404752;ENST00000406226;ENST00000309835	T;T;T	0.12465	2.68;2.68;2.68	4.72	4.72	0.59763	.	.	.	.	.	T	0.29882	0.0747	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	T	0.02519	-1.1147	9	0.87932	D	0	.	17.8536	0.88755	0.0:0.0:1.0:0.0	.	732	Q9Y6Q2	STON1_HUMAN	F	732	ENSP00000385273:C732F;ENSP00000384615:C732F;ENSP00000310969:C732F	ENSP00000310969:C732F	C	+	2	0	STON1	48675932	1.000000	0.71417	0.938000	0.37757	0.914000	0.54420	7.478000	0.81082	2.448000	0.82819	0.455000	0.32223	TGC	-	pirsf_Stonin		0.388	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1	protein_coding	OTTHUMT00000323848.2	G	NM_006873	-		48822428	1	no_errors	ENST00000309835	ensembl	human	known	74_37	missense	SNP	0.998	T	T	48822428	G	T	48822428	3	4	165	1	0	0	0	0	1	0	0	0	15323	1319	46	3	2205	3	STON1	2	48822428	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		48822428	194376945	3	11694											
ASTL	431705	genome.wustl.edu	37	chr2	96803348	96803348	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtccttgtccccggaGgcctgggttccctcaggggt	15	12	1	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr2:96803348G>T	ENST00000342380.2	-	2	146	c.147C>A	c.(145-147)gcC>gcA	p.A49A		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGTCCCCGGAGGCCTGGGTTC	0.607																																																	0								ENSG00000188886						150	132	138					2																	96803348		2203	4300	6503	ASTL	SO:0001819	synonymous_variant	0			-	HGNC	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.147C>A	2.37:g.96803348G>T		Somatic	0	64	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	36	52.00		Silent	SNP							pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.A49	ENST00000342380.2	37	c.147	CCDS33249.1	2																																																																																			-	NULL		0.607	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	protein_coding	OTTHUMT00000338801.1	G		-		96803348	-1	no_errors	ENST00000342380	ensembl	human	known	74_37	silent	SNP	0.000	T	T	96803348	G	T	96803348	2	4	165	1	0	0	0	0	0	0	0	1	1063	987	35	3		3	ASTL	2	96803348	Silent	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	47980920	96803348	146396025	4	11695											
SCN1A	6323	genome.wustl.edu	37	chr2	166854673	166854673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagactttcttcatacttagGctggagttccacctaccaaa	6	12	2	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr2:166854673G>T	ENST00000303395.4	-	23	4350	c.4351C>A	c.(4351-4353)Cct>Act	p.P1451T	SCN1A_ENST00000423058.2_Missense_Mutation_p.P1451T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1423T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1440T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1451			P -> L (in EIEE6; dbSNP:rs121917945). {ECO:0000269|PubMed:17054684}.		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)	TCATACTTAGGCTGGAGTTCC	0.338																																																	0								ENSG00000144285						79	72	74					2																	166854673		2203	4292	6495	SCN1A	SO:0001583	missense	0			-	HGNC	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.4351C>A	2.37:g.166854673G>T	ENSP00000303540:p.Pro1451Thr	Somatic	0	36	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	30.95	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.P1451T	ENST00000303395.4	37	c.4351	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433211	0.83776	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98280	-4.84;-4.84;-4.78;-4.74	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.97110	0.86;0.998;1.0	D	0.98239	1.0487	10	0.87932	D	0	.	18.9263	0.92546	0.0:0.0:1.0:0.0	.	1440;1423;1451	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1451;1451;1440;1423	ENSP00000407030:P1451T;ENSP00000303540:P1451T;ENSP00000364554:P1440T;ENSP00000386312:P1423T	ENSP00000303540:P1451T	P	-	1	0	SCN1A	166562919	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.685000	0.98661	2.461000	0.83175	0.460000	0.39030	CCT	-	pfam_Ion_trans_dom		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	G	NM_006920	-		166854673	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	SNP	1.000	T	T	166854673	G	T	166854673	3	4	165	1	0	0	0	0	1	0	0	0	13922	1203	42	3	1694	3	SCN1A	2	166854673	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	70051325	166854673	76344700	5	11696											
FANCD2	2177	genome.wustl.edu	37	chr3	10091084	10091084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgccttagtgacccaTatctgcagtgggaatgaagc	13	8	1	2	rs375412395	byFrequency	TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr3:10091084T>C	ENST00000419585.1	+	17	1601	c.1440T>C	c.(1438-1440)caT>caC	p.H480H	FANCD2_ENST00000383807.1_Silent_p.H480H|FANCD2_ENST00000383806.1_Silent_p.H480H|FANCD2_ENST00000287647.3_Silent_p.H480H			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	480					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAGTGACCCATATCTGCAGTG	0.438			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				t|||	10	0.00199681	0.0038	0.0029	5008	,	,		24050	0		0.002	False		,,,				2504	0.001						yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0								ENSG00000144554						301	302	302					3																	10091084		2203	4300	6503	FANCD2	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1440T>C	3.37:g.10091084T>C		Somatic	0	194	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	67	12.99	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP							superfamily_ARM-type_fold	p.H480	ENST00000419585.1	37	c.1440	CCDS33696.1	3																																																																																			-	superfamily_ARM-type_fold		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	protein_coding	OTTHUMT00000339873.1	T		-		10091084	1	no_errors	ENST00000287647	ensembl	human	known	74_37	silent	SNP	0.999	C	C	10091084	T	C	10091084	2	2	165	1	0	0	0	0	0	0	0	1	5667	1403	49	5		5	FANCD2	3	10091084	Silent	SNP	T	TCGA-JV-A5VE-01A-11D-A29N-09		10091084	187931346	6	11697											
PROM1	8842	genome.wustl.edu	37	chr4	15993986	15993986	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagatttaccttcagacttTccaattcactgcttatgctt	4	10	2	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr4:15993986T>A	ENST00000510224.1	-	17	2044	c.1796A>T	c.(1795-1797)gAa>gTa	p.E599V	PROM1_ENST00000508167.1_Missense_Mutation_p.E590V|PROM1_ENST00000505450.1_Missense_Mutation_p.E590V|PROM1_ENST00000540805.1_Missense_Mutation_p.E599V|PROM1_ENST00000539194.1_Missense_Mutation_p.E599V|PROM1_ENST00000543373.1_Missense_Mutation_p.E590V|PROM1_ENST00000447510.2_Missense_Mutation_p.E599V			O43490	PROM1_HUMAN	prominin 1	599					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CTTCAGACTTTCCAATTCACT	0.373																																																	0								ENSG00000007062						78	77	77					4																	15993986		1844	4102	5946	PROM1	SO:0001583	missense	0			-	HGNC	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1796A>T	4.37:g.15993986T>A	ENSP00000426809:p.Glu599Val	Somatic	0	37	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP							pfam_Prominin	p.E599V	ENST00000510224.1	37	c.1796	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837496	0.50951	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.29	4.09	0.47781	.	0.353403	0.34652	N	0.003797	T	0.62282	0.2415	M	0.73962	2.25	0.09310	N	0.999995	D;D;D;D;D;P	0.62365	0.991;0.991;0.991;0.991;0.986;0.792	P;P;P;P;P;P	0.60682	0.878;0.878;0.878;0.878;0.76;0.643	T	0.56245	-0.8011	10	0.56958	D	0.05	-6.2559	10.2054	0.43109	0.0:0.0:0.1672:0.8328	.	590;599;590;599;590;599	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	V	599;599;599;590;590;599;590	ENSP00000415481:E599V;ENSP00000438045:E599V;ENSP00000443620:E599V;ENSP00000426090:E590V;ENSP00000427346:E590V;ENSP00000426809:E599V;ENSP00000445526:E590V	ENSP00000415481:E599V	E	-	2	0	PROM1	15603084	0.012000	0.17670	0.002000	0.10522	0.007000	0.05969	1.671000	0.37513	0.826000	0.34661	0.533000	0.62120	GAA	-	pfam_Prominin		0.373	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	protein_coding	OTTHUMT00000359595.2	T	NM_006017	-		15993986	-1	no_errors	ENST00000447510	ensembl	human	known	74_37	missense	SNP	0.017	A	A	15993986	T	A	15993986	3	1	165	1	0	0	0	0	1	0	0	0	12560	1783	62	5	845	5	PROM1	4	15993986	Missense_Mutation	SNP	T	TCGA-JV-A5VE-01A-11D-A29N-09		15993986	175160290	7	11698											
COPS4	51138	genome.wustl.edu	37	chr4	83987594	83987594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcttatttatgtttaaggttCcagcatcttggacagagctg	9	7	2	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr4:83987594C>G	ENST00000264389.2	+	8	1025	c.890C>G	c.(889-891)tCc>tGc	p.S297C	COPS4_ENST00000503682.1_Missense_Mutation_p.S329C|COPS4_ENST00000511653.1_Missense_Mutation_p.S297C|COPS4_ENST00000509093.1_Missense_Mutation_p.S297C	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	297	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GTTTAAGGTTCCAGCATCTTG	0.318																																																	0								ENSG00000138663						87	90	89					4																	83987594		2203	4296	6499	COPS4	SO:0001583	missense	0			-	HGNC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.890C>G	4.37:g.83987594C>G	ENSP00000264389:p.Ser297Cys	Somatic	0	38	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP							pfam_PCI_dom,smart_PCI_dom	p.S297C	ENST00000264389.2	37	c.890	CCDS3600.1	4	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326920	0.81690	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.23	5.23	0.72850	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.81942	2.565	0.80722	D	1	D;P;D;D	0.89917	1.0;0.721;1.0;0.999	D;B;D;D	0.85130	0.992;0.349;0.997;0.979	T	0.58228	-0.7673	10	0.39692	T	0.17	-8.8041	18.9944	0.92806	0.0:1.0:0.0:0.0	.	297;329;297;297	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	C	297;297;185;329;297	ENSP00000425976:S297C;ENSP00000264389:S297C;ENSP00000425486:S185C;ENSP00000424791:S329C;ENSP00000424655:S297C	ENSP00000264389:S297C	S	+	2	0	COPS4	84206618	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.367000	0.79558	2.726000	0.93360	0.655000	0.94253	TCC	-	pfam_PCI_dom,smart_PCI_dom		0.318	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS4	protein_coding	OTTHUMT00000252643.1	C		-		83987594	1	no_errors	ENST00000264389	ensembl	human	known	74_37	missense	SNP	1.000	G	G	83987594	C	G	83987594	3	3	165	1	0	0	0	0	1	0	0	0	3737	855	30	4	920	4	COPS4	4	83987594	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	67993608	83987594	107166682	8	11699											
QRFPR	84109	genome.wustl.edu	37	chr4	122301664	122301664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgccggtgagcacgagggCcagcttggcgcgtcccggca	16	15	0	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr4:122301664C>A	ENST00000394427.2	-	1	550	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	QRFPR_ENST00000334383.5_Missense_Mutation_p.A47S	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	47					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGCACGAGGGCCAGCTTGGCG	0.662																																																	0								ENSG00000186867						44	41	42					4																	122301664		2203	4300	6503	QRFPR	SO:0001583	missense	0			-	HGNC	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.139G>T	4.37:g.122301664C>A	ENSP00000377948:p.Ala47Ser	Somatic	0	34	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	17	61.36		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.A47S	ENST00000394427.2	37	c.139	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222053	0.39300	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.37915	1.17;1.17	4.91	4.91	0.64330	.	0.221417	0.46145	D	0.000313	T	0.33527	0.0866	L	0.39898	1.24	0.44603	D	0.997573	B;P;P	0.39424	0.22;0.544;0.673	B;B;B	0.37144	0.058;0.084;0.242	T	0.25082	-1.0142	10	0.59425	D	0.04	.	17.6969	0.88283	0.0:1.0:0.0:0.0	.	47;47;47	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	S	47	ENSP00000377948:A47S;ENSP00000335610:A47S	ENSP00000335610:A47S	A	-	1	0	QRFPR	122521114	0.998000	0.40836	1.000000	0.80357	0.547000	0.35210	2.279000	0.43435	2.231000	0.72958	0.467000	0.42956	GCC	-	prints_GPCR_Rhodpsn		0.662	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	protein_coding	OTTHUMT00000256641.2	C	NM_198179	-		122301664	-1	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122301664	C	A	122301664	3	1	165	1	0	0	0	0	1	0	0	0	12886	739	26	3	1180	3	QRFPR	4	122301664	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	38314070	122301664	68852612	9	11700											
ANKRD50	57182	genome.wustl.edu	37	chr4	125593642	125593642	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactgctgaacatcctTgacgatatatgccttccgaa	7	10	0	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr4:125593642T>A	ENST00000504087.1	-	4	1827	c.790A>T	c.(790-792)Aag>Tag	p.K264*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.K85*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	264										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGAACATCCTTGACGATATAT	0.348																																																	0								ENSG00000151458						64	60	62					4																	125593642		2203	4299	6502	ANKRD50	SO:0001587	stop_gained	0			-	HGNC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.790A>T	4.37:g.125593642T>A	ENSP00000425658:p.Lys264*	Somatic	0	28	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	40.00	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K264*	ENST00000504087.1	37	c.790	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	T	43	10.124373	0.99342	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.43	5.43	0.79202	.	0.065185	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6396	0.76984	0.0:0.0:0.0:1.0	.	.	.	.	X	264;85	.	ENSP00000425658:K264X	K	-	1	0	ANKRD50	125813092	1.000000	0.71417	0.959000	0.39883	0.162000	0.22319	5.589000	0.67523	2.277000	0.76020	0.528000	0.53228	AAG	-	NULL		0.348	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	protein_coding	OTTHUMT00000364775.1	T	NM_020337	-		125593642	-1	no_errors	ENST00000504087	ensembl	human	known	74_37	nonsense	SNP	0.999	A	A	125593642	T	A	125593642	4	1	165	1	0	0	0	0	0	1	0	0	677	1821	63	5	3503	5	ANKRD50	4	125593642	Nonsense_Mutation	SNP	T	TCGA-JV-A5VE-01A-11D-A29N-09	3291978	125593642	65560634	10	11701											
P4HA2	8974	genome.wustl.edu	37	chr5	131528746	131528746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtctcaagaactcctgtCctcgttcatggaaccactta	7	12	2	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr5:131528746C>T	ENST00000401867.1	-	16	2133	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	P4HA2_ENST00000379104.2_Missense_Mutation_p.G522E|P4HA2_ENST00000379086.1_Missense_Mutation_p.G520E|P4HA2_ENST00000166534.4_Missense_Mutation_p.G522E|P4HA2_ENST00000379100.2_Missense_Mutation_p.G520E|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000360568.3_Missense_Mutation_p.G520E			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	522					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GAACTCCTGTCCTCGTTCATG	0.448																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0								ENSG00000072682						242	186	205					5																	131528746		2203	4300	6503	P4HA2	SO:0001583	missense	0			-	HGNC	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1565G>A	5.37:g.131528746C>T	ENSP00000384999:p.Gly522Glu	Somatic	0	22	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	22	45.00	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP							pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G522E	ENST00000401867.1	37	c.1565	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.222417	0.95139	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.81;0.8;0.81;0.8;0.81;0.8	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.70842	2.15	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.76071	0.97;0.987	T	0.71248	-0.4649	10	0.87932	D	0	-7.3123	20.3732	0.98896	0.0:1.0:0.0:0.0	.	522;520	O15460;O15460-2	P4HA2_HUMAN;.	E	522;520;522;520;522;520	ENSP00000384999:G522E;ENSP00000368379:G520E;ENSP00000166534:G522E;ENSP00000353772:G520E;ENSP00000368398:G522E;ENSP00000368394:G520E	ENSP00000166534:G522E	G	-	2	0	P4HA2	131556645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.434000	0.80377	2.809000	0.96659	0.650000	0.86243	GGA	-	NULL		0.448	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	protein_coding	OTTHUMT00000132653.4	C	NM_004199	-		131528746	-1	no_errors	ENST00000166534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131528746	C	T	131528746	3	4	165	1	0	0	0	0	1	0	0	0	11359	855	30	2	46	2	P4HA2	5	131528746	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09		131528746	49386514	11	11702											
RELN	5649	genome.wustl.edu	37	chr7	103251252	103251252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttggcatacttggaaggcaTtcctgaaagaaagttaggca	11	7	0	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr7:103251252T>A	ENST00000428762.1	-	22	3057	c.2898A>T	c.(2896-2898)gaA>gaT	p.E966D	RELN_ENST00000424685.2_Missense_Mutation_p.E966D|RELN_ENST00000343529.5_Missense_Mutation_p.E966D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	966					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)		TTGGAAGGCATTCCTGAAAGA	0.423																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						102	89	93					7																	103251252		2203	4300	6503	RELN	SO:0001583	missense	0			-	HGNC		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.2898A>T	7.37:g.103251252T>A	ENSP00000392423:p.Glu966Asp	Somatic	0	49	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	11	64.52	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP							pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.E966D	ENST00000428762.1	37	c.2898	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452111	0.43531	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23754	1.89;1.89;1.89	6.08	3.64	0.41730	.	0.055729	0.85682	D	0.000000	T	0.16811	0.0404	N	0.25485	0.75	0.32880	D	0.510377	B;B	0.31625	0.185;0.332	B;B	0.31101	0.124;0.079	T	0.17684	-1.0361	10	0.31617	T	0.26	.	9.8083	0.40805	0.0:0.1364:0.0:0.8636	.	966;966	P78509-2;P78509	.;RELN_HUMAN	D	966	ENSP00000392423:E966D;ENSP00000345694:E966D;ENSP00000388446:E966D	ENSP00000345694:E966D	E	-	3	2	RELN	103038488	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.377000	0.44300	0.498000	0.27948	0.533000	0.62120	GAA	-	superfamily_Sialidases		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	T	NM_005045	-		103251252	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103251252	T	A	103251252	3	1	165	1	0	0	0	0	1	0	0	0	13228	1490	52	5	7660	5	RELN	7	103251252	Missense_Mutation	SNP	T	TCGA-JV-A5VE-01A-11D-A29N-09		103251252	55887411	12	11703											
SNTG1	54212	genome.wustl.edu	37	chr8	51363127	51363127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcacagcggaactttcaGgactactttttattggagat	8	8	2	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr8:51363127G>A	ENST00000522124.1	+	7	950	c.289G>A	c.(289-291)Gga>Aga	p.G97R	SNTG1_ENST00000518864.1_Missense_Mutation_p.G97R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G97R|SNTG1_ENST00000517473.1_Missense_Mutation_p.G97R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	97	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGAACTTTCAGGACTACTTTT	0.303																																																	0								ENSG00000147481						166	157	160					8																	51363127		2203	4300	6503	SNTG1	SO:0001583	missense	0			-	HGNC	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.289G>A	8.37:g.51363127G>A	ENSP00000429842:p.Gly97Arg	Somatic	0	53	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	38	39.68	Q2M3Q0|Q9NY98	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.G97R	ENST00000522124.1	37	c.289	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011138	0.54361	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.32	5.32	0.75619	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80171	-0.1493	10	0.46703	T	0.11	.	16.4853	0.84183	0.0:0.0:1.0:0.0	.	97;97	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	R	97	ENSP00000429276:G97R;ENSP00000429842:G97R;ENSP00000431123:G97R;ENSP00000276467:G97R	ENSP00000276467:G97R	G	+	1	0	SNTG1	51525680	1.000000	0.71417	0.993000	0.49108	0.199000	0.23934	6.388000	0.73195	2.475000	0.83589	0.650000	0.86243	GGA	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.303	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	G		-		51363127	1	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51363127	G	A	51363127	3	1	165	1	0	0	0	0	1	0	0	0	14882	1001	35	2	307	2	SNTG1	8	51363127	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		51363127	95000895	13	11704											
VPS13B	157680	genome.wustl.edu	37	chr8	100026141	100026142	+	Frame_Shift_Ins	INS	-	-	A													gtactcagcaagctcgagttINSaaagttggatgtgctggaac							TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr8:100026141_100026142insA	ENST00000358544.2	+	2	236_237	c.125_126insA	c.(124-129)ttaaagfs	p.LK42fs	VPS13B_ENST00000357162.2_Frame_Shift_Ins_p.LK42fs|VPS13B_ENST00000355155.1_Frame_Shift_Ins_p.LK42fs|RP11-410L14.2_ENST00000521696.1_lincRNA|VPS13B_ENST00000395996.1_Frame_Shift_Ins_p.LK42fs|VPS13B_ENST00000441350.2_Frame_Shift_Ins_p.LK42fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	42					protein transport (GO:0015031)					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)			AAGCTCGAGTTAAAGTTGGATG	0.411																																					Colon(161;2205 2542 7338 31318)												0								ENSG00000132549																																			VPS13B	SO:0001589	frameshift_variant	0				HGNC	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.128dupA	8.37:g.100026144_100026144dupA	ENSP00000351346:p.Leu42fs	Somatic	0	66	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	51	32.00	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Ins	INS							pfam_Autophagy-rel_C	p.L44fs	ENST00000358544.2	37	c.125_126	CCDS6280.1	8																																																																																			-	NULL		0.411	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	-	NM_184042			100026142	1	no_errors	ENST00000358544	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	100026142	-	A	100026141	7	5	165	1	0	1	1	0	0	0	0	0	17197	1764	61	0	127	0	VPS13B	8	100026141	Frame_Shift_Ins	INS	-	TCGA-JV-A5VE-01A-11D-A29N-09	48663014	100026141	46337881	14	11705											
SMARCA2	6595	genome.wustl.edu	37	chr9	2097414	2097414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctaagacacttatgaaCactattatgcagttgagaaa	9	6	0	3			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr9:2097414C>T	ENST00000382203.1	+	21	3230	c.3021C>T	c.(3019-3021)aaC>aaT	p.N1007N	SMARCA2_ENST00000349721.2_Silent_p.N1007N|SMARCA2_ENST00000357248.2_Silent_p.N1007N|SMARCA2_ENST00000382194.1_Silent_p.N1007N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1007					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)		CACTTATGAACACTATTATGC	0.378																																																	0								ENSG00000080503						155	146	149					9																	2097414		2203	4300	6503	SMARCA2	SO:0001819	synonymous_variant	0			-	HGNC	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.3021C>T	9.37:g.2097414C>T		Somatic	0	40	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	60.61	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP							pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.N1007	ENST00000382203.1	37	c.3021	CCDS34977.1	9																																																																																			-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.378	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	C	NM_003070	-		2097414	1	no_errors	ENST00000349721	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2097414	C	T	2097414	2	4	165	1	0	0	0	0	0	0	0	1	14777	477	17	2		2	SMARCA2	9	2097414	Silent	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09		2097414	139116017	15	11706											
PLA2G12B	84647	genome.wustl.edu	37	chr10	74714308	74714308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcgaagtagctattgaCggattcaaagcttccccgga	10	9	1	2	rs372066733		TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr10:74714308C>T	ENST00000373032.3	-	1	228	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	46					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TAGCTATTGACGGATTCAAAG	0.562																																																	0								ENSG00000138308	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	133	141	138		136	4.6	0.9	10		138	0,8600		0,0,4300	no	missense	PLA2G12B	NM_032562.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	46/196	74714308	1,13005	2203	4300	6503	PLA2G12B	SO:0001583	missense	0			-	HGNC	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.136G>A	10.37:g.74714308C>T	ENSP00000362123:p.Val46Ile	Somatic	0	40	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	14	65.00	B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP							pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom	p.V46I	ENST00000373032.3	37	c.136	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	C	8.246	0.808023	0.16467	2.27E-4	0.0	ENSG00000138308	ENST00000373032	.	.	.	5.54	4.6	0.57074	.	0.060261	0.64402	N	0.000004	T	0.37489	0.1005	L	0.42686	1.345	0.80722	D	1	P;P	0.49253	0.921;0.768	B;B	0.36567	0.228;0.072	T	0.29366	-1.0014	9	0.07813	T	0.8	-9.7987	13.0639	0.59022	0.0:0.9167:0.0:0.0833	.	46;46	B7ZL23;Q9BX93	.;PG12B_HUMAN	I	46	.	ENSP00000362123:V46I	V	-	1	0	PLA2G12B	74384314	1.000000	0.71417	0.935000	0.37517	0.229000	0.25112	4.374000	0.59543	1.241000	0.43820	-0.345000	0.07892	GTC	-	pfam_PLipase_A2_secretory_G12		0.562	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	protein_coding	OTTHUMT00000048598.1	C	NM_032562	-		74714308	-1	no_errors	ENST00000373032	ensembl	human	known	74_37	missense	SNP	0.997	T	T	74714308	C	T	74714308	3	4	165	1	0	0	0	0	1	0	0	0	11993	536	19	1	467	1	PLA2G12B	10	74714308	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09		74714308	60820439	16	11707											
SMC3	9126	genome.wustl.edu	37	chr10	112349397	112349397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttaatgaagtcaaagctcGagtagaagaactggacagaa	10	6	2	4			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr10:112349397G>A	ENST00000361804.4	+	14	1466	c.1340G>A	c.(1339-1341)cGa>cAa	p.R447Q		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	447					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)		GTCAAAGCTCGAGTAGAAGAA	0.284																																																	0								ENSG00000108055						30	31	31					10																	112349397		2200	4298	6498	SMC3	SO:0001583	missense	0			-	HGNC	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.1340G>A	10.37:g.112349397G>A	ENSP00000354720:p.Arg447Gln	Somatic	0	18	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	A8K156|O60464|Q5T482	Missense_Mutation	SNP							pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.R447Q	ENST00000361804.4	37	c.1340	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261732	0.39995	.	.	ENSG00000108055	ENST00000361804	T	0.75704	-0.96	5.95	5.95	0.96441	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	N	0.02158	-0.66	0.80722	D	1	B	0.29886	0.26	B	0.22152	0.038	T	0.56745	-0.7928	10	0.06625	T	0.88	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	447	Q9UQE7	SMC3_HUMAN	Q	447	ENSP00000354720:R447Q	ENSP00000354720:R447Q	R	+	2	0	SMC3	112339387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.817000	0.96982	0.563000	0.77884	CGA	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.284	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	G	NM_005445	-		112349397	1	no_errors	ENST00000361804	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112349397	G	A	112349397	3	1	165	1	0	0	0	0	1	0	0	0	14792	1058	37	1	1394	1	SMC3	10	112349397	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	37635089	112349397	23185350	17	11708											
FGFR2	2263	genome.wustl.edu	37	chr10	123298217	123298217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccataatgaggctccagtGctggtttcgtacctgaaaag	10	9	0	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr10:123298217G>T	ENST00000358487.5	-	6	909	c.637C>A	c.(637-639)Cac>Aac	p.H213N	FGFR2_ENST00000369056.1_Missense_Mutation_p.H213N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369059.1_Missense_Mutation_p.H98N|FGFR2_ENST00000359354.2_Missense_Mutation_p.H213N|FGFR2_ENST00000369061.4_Missense_Mutation_p.H213N|FGFR2_ENST00000351936.6_Missense_Mutation_p.H213N|FGFR2_ENST00000356226.4_Missense_Mutation_p.H98N|FGFR2_ENST00000369060.4_Missense_Mutation_p.H213N|FGFR2_ENST00000346997.2_Missense_Mutation_p.H213N|FGFR2_ENST00000357555.5_Missense_Mutation_p.H124N|FGFR2_ENST00000360144.3_Missense_Mutation_p.H124N|FGFR2_ENST00000457416.2_Missense_Mutation_p.H213N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	213	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.H213Y(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	AGGCTCCAGTGCTGGTTTCGT	0.418		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Substitution - Missense(1)	skin(1)						ENSG00000066468						147	128	134					10																	123298217		2203	4300	6503	FGFR2	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	-	HGNC	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.637C>A	10.37:g.123298217G>T	ENSP00000351276:p.His213Asn	Somatic	0	32	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H213N	ENST00000358487.5	37	c.637	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656628	0.67586	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	N	0.04162	-0.26	0.80722	D	1	B;D;B;B;B;B;P;P;P;P;B;P	0.55800	0.276;0.973;0.003;0.32;0.013;0.041;0.862;0.712;0.887;0.762;0.007;0.862	P;P;B;B;B;B;P;P;D;P;B;P	0.63283	0.5;0.777;0.017;0.378;0.038;0.022;0.802;0.457;0.913;0.584;0.022;0.802	T	0.66200	-0.5983	10	0.37606	T	0.19	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	232;232;98;213;232;213;124;98;213;232;124;213	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	N	124;213;213;213;98;213;98;213;213;213;124;213;213;124;213	ENSP00000350166:H124N;ENSP00000358057:H213N;ENSP00000351276:H213N;ENSP00000348559:H98N;ENSP00000358056:H213N;ENSP00000358055:H98N;ENSP00000263451:H213N;ENSP00000410294:H213N;ENSP00000309878:H213N;ENSP00000353262:H124N;ENSP00000358052:H213N;ENSP00000358054:H213N;ENSP00000337665:H124N;ENSP00000352309:H213N	ENSP00000337665:H124N	H	-	1	0	FGFR2	123288207	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.892000	0.87324	2.941000	0.99782	0.655000	0.94253	CAC	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.418	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	protein_coding	OTTHUMT00000050715.1	G	NM_022976, NM_000141	-		123298217	-1	no_errors	ENST00000457416	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123298217	G	T	123298217	3	4	165	1	0	0	0	0	1	0	0	0	5868	1319	46	3	2136	3	FGFR2	10	123298217	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	10948820	123298217	12236530	18	11709											
AHNAK	79026	genome.wustl.edu	37	chr11	62296044	62296044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgggacctgttaaatctcCctccaattttggcaccgaca	7	13	1	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr11:62296044C>G	ENST00000378024.4	-	5	6119	c.5845G>C	c.(5845-5847)Gga>Cga	p.G1949R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1949					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTAAATCTCCCTCCAATTTT	0.512																																																	0								ENSG00000124942						208	217	214					11																	62296044		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5845G>C	11.37:g.62296044C>G	ENSP00000367263:p.Gly1949Arg	Somatic	1	104	0.95		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	71	34.86	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1949R	ENST00000378024.4	37	c.5845	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	3.798	-0.042365	0.07452	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03358	3.96	2.53	2.53	0.30540	.	.	.	.	.	T	0.29423	0.0733	H	0.97783	4.075	0.32152	N	0.584036	D	0.89917	1.0	D	0.76575	0.988	T	0.57906	-0.7730	9	0.66056	D	0.02	.	13.0281	0.58827	0.0:1.0:0.0:0.0	.	1949	Q09666	AHNK_HUMAN	R	38;1949	ENSP00000367263:G1949R	ENSP00000244934:G38R	G	-	1	0	AHNAK	62052620	0.000000	0.05858	0.269000	0.24586	0.004000	0.04260	-0.018000	0.12568	1.422000	0.47177	0.457000	0.33378	GGA	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	C	NM_024060	-		62296044	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62296044	C	G	62296044	3	3	165	1	0	0	0	0	1	0	0	0	414	632	22	4	11947	4	AHNAK	11	62296044	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09		62296044	72710472	19	11710											
ZBTB3	79842	genome.wustl.edu	37	chr11	62520110	62520110	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaaaagcctctggctGggagggctgtgccccataca	12	12	3	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr11:62520110G>A	ENST00000394807.3	-	2	1302	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	393					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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GCCTCTGGCTGGGAGGGCTGT	0.567																																																	0								ENSG00000185670						50	49	49					11																	62520110		2202	4299	6501	ZBTB3	SO:0001587	stop_gained	0			-	HGNC	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1177C>T	11.37:g.62520110G>A	ENSP00000378286:p.Gln393*	Somatic	0	37	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14		Nonsense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q393*	ENST00000394807.3	37	c.1177	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624503	0.46840	.	.	ENSG00000185670	ENST00000394807	.	.	.	3.98	3.98	0.46160	.	1.052510	0.07429	N	0.895452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	8.9515	0.35792	0.0:0.0:0.7787:0.2213	.	.	.	.	X	393	.	ENSP00000378286:Q393X	Q	-	1	0	ZBTB3	62276686	0.004000	0.15560	0.940000	0.37924	0.402000	0.30811	1.109000	0.31135	2.066000	0.61787	0.561000	0.74099	CAG	-	NULL		0.567	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	protein_coding	OTTHUMT00000395342.1	G	NM_024784	-		62520110	-1	no_errors	ENST00000394807	ensembl	human	known	74_37	nonsense	SNP	0.008	A	A	62520110	G	A	62520110	4	1	165	1	0	0	0	0	0	1	0	0	17541	1357	47	2	551	2	ZBTB3	11	62520110	Nonsense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	224066	62520110	72486406	20	11711											
CCDC85B	11007	genome.wustl.edu	37	chr11	65658627	65658627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagctggccgagctggagGgccgccaggaggagctgctg	19	10	0	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr11:65658627G>T	ENST00000312579.2	+	1	753	c.373G>T	c.(373-375)Ggc>Tgc	p.G125C	FIBP_ENST00000338369.2_5'Flank|FIBP_ENST00000357519.4_5'Flank|FIBP_ENST00000426652.2_5'Flank|FIBP_ENST00000533045.1_5'Flank	NM_006848.2	NP_006839.2	Q15834	CC85B_HUMAN	coiled-coil domain containing 85B	125					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)									READ - Rectum adenocarcinoma(159;0.166)		CGAGCTGGAGGGCCGCCAGGA	0.746																																																	0								ENSG00000175602						3	5	4					11																	65658627		1941	3898	5839	CCDC85B	SO:0001583	missense	0			-	HGNC	BC008796	CCDS8120.1	11q13.1	2010-12-24				ENSG00000175602			24926	protein-coding gene	gene with protein product	"hepatitis delta antigen interacting protein A"	605360				8810253, 15644333, 17873903	Standard	NM_006848		Approved	DIPA	uc001ogf.3	Q15834		ENST00000312579.2:c.373G>T	11.37:g.65658627G>T	ENSP00000311695:p.Gly125Cys	Somatic	0	19	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	45.45	B2R598|Q96HA0	Missense_Mutation	SNP							pfam_DUF2216_coiled-coil	p.G125C	ENST00000312579.2	37	c.373	CCDS8120.1	11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467632	0.63625	.	.	ENSG00000175602	ENST00000312579	.	.	.	3.87	1.96	0.26148	.	0.167468	0.40302	U	0.001133	T	0.33847	0.0877	N	0.22421	0.69	0.32261	N	0.570089	D	0.67145	0.996	P	0.51945	0.685	T	0.43081	-0.9413	9	0.56958	D	0.05	-6.7232	5.9941	0.19483	0.3286:0.0:0.6714:0.0	.	125	Q15834	CC85B_HUMAN	C	125	.	ENSP00000311695:G125C	G	+	1	0	CCDC85B	65415203	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.560000	0.45896	0.411000	0.25702	0.455000	0.32223	GGC	-	pfam_DUF2216_coiled-coil		0.746	CCDC85B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85B	protein_coding	OTTHUMT00000391196.1	G	NM_006848	-		65658627	1	no_errors	ENST00000312579	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65658627	G	T	65658627	3	4	165	1	0	0	0	0	1	0	0	0	2862	1232	43	3	375	3	CCDC85B	11	65658627	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	3138517	65658627	69347889	21	11712											
FOLR3	2352	genome.wustl.edu	37	chr11	71850758	71850758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactatagtcgagggagcggCcgctgcatccagatgtggtt	14	9	0	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr11:71850758C>T	ENST00000445078.2	+	5	812	c.741C>T	c.(739-741)ggC>ggT	p.G247G	FOLR3_ENST00000456237.1_Silent_p.G249G|FOLR3_ENST00000442948.2_Silent_p.G206G			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	205					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAGGGAGCGGCCGCTGCATCC	0.597																																																	0								ENSG00000110203						40	41	41					11																	71850758		2200	4293	6493	FOLR3	SO:0001819	synonymous_variant	0			-	HGNC	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.741C>T	11.37:g.71850758C>T		Somatic	0	45	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	21	53.33	J3KQ90|Q05C14	Silent	SNP							pfam_Folate_rcpt-like	p.G249	ENST00000445078.2	37	c.747		11																																																																																			-	pfam_Folate_rcpt-like		0.597	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	protein_coding	OTTHUMT00000396739.1	C	NM_000804	-		71850758	1	no_errors	ENST00000456237	ensembl	human	known	74_37	silent	SNP	1.000	T	T	71850758	C	T	71850758	2	4	165	1	0	0	0	0	0	0	0	1	5985	726	26	2		2	FOLR3	11	71850758	Silent	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	6192131	71850758	63155758	22	11713											
OR8D1	283159	genome.wustl.edu	37	chr11	124180329	124180329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggcagtcaggaggtaacCctcagccaccacaaagacca	9	14	2	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr11:124180329C>A	ENST00000357821.2	-	1	404	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGAGGTAACCCTCAGCCACC	0.468																																																	0								ENSG00000196341						77	71	73					11																	124180329		2201	4299	6500	OR8D1	SO:0001583	missense	0			-	HGNC	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.334G>T	11.37:g.124180329C>A	ENSP00000350474:p.Gly112Cys	Somatic	0	63	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	38	41.54	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G112C	ENST00000357821.2	37	c.334	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	3.041	-0.197412	0.06259	.	.	ENSG00000196341	ENST00000357821	T	0.01051	5.4	4.29	-8.58	0.00897	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	U	0.001983	T	0.00271	0.0008	N	0.00143	-2	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28427	-1.0044	10	0.02654	T	1	.	9.5223	0.39143	0.6708:0.1276:0.0:0.2016	.	112	Q8WZ84	OR8D1_HUMAN	C	112	ENSP00000350474:G112C	ENSP00000350474:G112C	G	-	1	0	OR8D1	123685539	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.667000	0.00846	-1.730000	0.01362	-0.363000	0.07495	GGT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	protein_coding	OTTHUMT00000387285.1	C	NM_001002917	-		124180329	-1	no_errors	ENST00000357821	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124180329	C	A	124180329	3	1	165	1	0	0	0	0	1	0	0	0	11233	623	22	3	595	3	OR8D1	11	124180329	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	52329571	124180329	10826187	23	11714											
ROBO3	64221	genome.wustl.edu	37	chr11	124743602	124743602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccactgcagaagactgggGagtatcaccagaccccccta	9	15	1	3	rs372770487		TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr11:124743602G>A	ENST00000397801.1	+	11	1820	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	ROBO3_ENST00000538940.1_Missense_Mutation_p.G521E	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	543					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAAGACTGGGGAGTATCACCA	0.527																																																	0								ENSG00000154134	G	GLU/GLY	0,3714		0,0,1857	32	35	34		1628	2.9	1	11		34	2,8182		0,2,4090	no	missense	ROBO3	NM_022370.3	98	0,2,5947	AA,AG,GG		0.0244,0.0,0.0168	possibly-damaging	543/1387	124743602	2,11896	1857	4092	5949	ROBO3	SO:0001583	missense	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1628G>A	11.37:g.124743602G>A	ENSP00000380903:p.Gly543Glu	Somatic	0	26	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44		Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G543E	ENST00000397801.1	37	c.1628	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279860	0.40294	0.0	2.44E-4	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.64438	-0.1;-0.09	4.92	2.91	0.33838	.	0.399613	0.18179	N	0.149210	T	0.52549	0.1741	L	0.55990	1.75	0.58432	D	0.999991	P	0.42735	0.788	B	0.38264	0.269	T	0.56019	-0.8048	10	0.59425	D	0.04	.	7.6758	0.28484	0.0928:0.0:0.7343:0.1728	.	543	Q96MS0	ROBO3_HUMAN	E	543;521	ENSP00000380903:G543E;ENSP00000441797:G521E	ENSP00000380903:G543E	G	+	2	0	ROBO3	124248812	0.977000	0.34250	0.998000	0.56505	0.808000	0.45660	2.423000	0.44705	1.306000	0.44926	-0.253000	0.11424	GGA	-	NULL		0.527	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	G	XM_370663	-		124743602	1	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	SNP	0.589	A	A	124743602	G	A	124743602	3	1	165	1	0	0	0	0	1	0	0	0	13523	1174	41	2	1670	2	ROBO3	11	124743602	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	563273	124743602	10262914	24	11715											
WNT5B	81029	genome.wustl.edu	37	chr12	1755193	1755193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatgtggaccccagcccCgactactgcctgcgcaacga	10	16	1	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr12:1755193C>T	ENST00000397196.2	+	5	1087	c.855C>T	c.(853-855)ccC>ccT	p.P285P	WNT5B_ENST00000537031.1_Silent_p.P285P|WNT5B_ENST00000310594.3_Silent_p.P285P|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	285					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACCCCAGCCCCGACTACTGCC	0.687																																																	0								ENSG00000111186						42	43	43					12																	1755193		2202	4299	6501	WNT5B	SO:0001819	synonymous_variant	0			-	HGNC	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.855C>T	12.37:g.1755193C>T		Somatic	0	58	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	41.82	A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP							pfam_Wnt,smart_Wnt,prints_Wnt	p.P285	ENST00000397196.2	37	c.855	CCDS8510.1	12																																																																																			-	pfam_Wnt,smart_Wnt,prints_Wnt		0.687	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	protein_coding	OTTHUMT00000206747.2	C		-		1755193	1	no_errors	ENST00000310594	ensembl	human	known	74_37	silent	SNP	0.016	T	T	1755193	C	T	1755193	2	4	165	1	0	0	0	0	0	0	0	1	17399	639	23	1		1	WNT5B	12	1755193	Silent	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09		1755193	132096702	25	11716											
C3AR1	719	genome.wustl.edu	37	chr12	8212621	8212621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaattgtgttcactgtcCgctgcatcttcaggccagcc	8	14	3	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr12:8212621C>T	ENST00000307637.4	-	2	364	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	54					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTTCACTGTCCGCTGCATCTT	0.567																																																	0								ENSG00000171860						97	82	87					12																	8212621		2203	4300	6503	C3AR1	SO:0001583	missense	0			-	HGNC	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.161G>A	12.37:g.8212621C>T	ENSP00000302079:p.Arg54Gln	Somatic	0	30	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	18	60.87	O43771|Q92868	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.R54Q	ENST00000307637.4	37	c.161	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929886	0.73327	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.42131	0.98;0.98	5.8	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.078265	0.46442	D	0.000298	T	0.45776	0.1359	M	0.73319	2.225	0.22096	N	0.99936	P	0.51653	0.947	P	0.45998	0.5	T	0.43893	-0.9363	10	0.62326	D	0.03	.	9.7848	0.40670	0.0:0.7819:0.141:0.0772	.	54	Q16581	C3AR_HUMAN	Q	54	ENSP00000302079:R54Q;ENSP00000444500:R54Q	ENSP00000302079:R54Q	R	-	2	0	C3AR1	8103888	0.868000	0.29978	0.003000	0.11579	0.754000	0.42855	1.606000	0.36826	0.783000	0.33636	0.585000	0.79938	CGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2		0.567	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	protein_coding	OTTHUMT00000400254.1	C		-		8212621	-1	no_errors	ENST00000307637	ensembl	human	known	74_37	missense	SNP	0.414	T	T	8212621	C	T	8212621	3	4	165	1	0	0	0	0	1	0	0	0	2207	652	23	1	1291	1	C3AR1	12	8212621	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	6457428	8212621	125639274	26	11717											
TIMELESS	8914	genome.wustl.edu	37	chr12	56827326	56827326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaaatcctcacctctTtgtaggcctgcaaataagtt	7	10	2	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr12:56827326T>C	ENST00000553532.1	-	4	512	c.362A>G	c.(361-363)aAa>aGa	p.K121R	TIMELESS_ENST00000229201.4_Missense_Mutation_p.K121R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.K121R					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCACCTCTTTGTAGGCCTG	0.488																																																	0								ENSG00000111602						105	110	108					12																	56827326		2203	4300	6503	TIMELESS	SO:0001583	missense	0			-	HGNC	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.362A>G	12.37:g.56827326T>C	ENSP00000450607:p.Lys121Arg	Somatic	0	29	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	3	81.25		Missense_Mutation	SNP							pfam_TIMELESS_C,pfam_Timeless	p.K121R	ENST00000553532.1	37	c.362	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607422	0.87157	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.76448	-1.02;-1.02;-1.02	5.42	5.42	0.78866	Timeless protein (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91923	0.5549	10	0.87932	D	0	-21.1443	14.7612	0.69607	0.0:0.0:0.0:1.0	.	121;121	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	R	121	ENSP00000229201:K121R;ENSP00000450607:K121R;ENSP00000450848:K121R	ENSP00000229201:K121R	K	-	2	0	TIMELESS	55113593	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.869000	0.87170	2.191000	0.70037	0.528000	0.53228	AAA	-	pfam_Timeless		0.488	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	protein_coding	OTTHUMT00000409771.1	T	NM_003920	-		56827326	-1	no_errors	ENST00000553532	ensembl	human	known	74_37	missense	SNP	1.000	C	C	56827326	T	C	56827326	3	2	165	1	0	0	0	0	1	0	0	0	15911	1841	64	5	3368	5	TIMELESS	12	56827326	Missense_Mutation	SNP	T	TCGA-JV-A5VE-01A-11D-A29N-09	48614705	56827326	77024569	27	11718											
C13orf23	80209	genome.wustl.edu	37	chr13	39598657	39598657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctattcctttgccttcgtTagtacattcttcaccatctt	4	12	3	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr13:39598657T>G	ENST00000352251.3	-	7	1350	c.517A>C	c.(517-519)Aac>Cac	p.N173H	PROSER1_ENST00000484434.3_5'Flank|PROSER1_ENST00000350125.3_Missense_Mutation_p.N151H	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	173																	TTGCCTTCGTTAGTACATTCT	0.333																																																	0								ENSG00000120685						124	107	113					13																	39598657		2203	4300	6503	PROSER1	SO:0001583	missense	0			-	HGNC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.517A>C	13.37:g.39598657T>G	ENSP00000332034:p.Asn173His	Somatic	0	41	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	7	81.08	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP							NULL	p.N173H	ENST00000352251.3	37	c.517	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095831	0.76870	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678	T;T	0.39056	1.11;1.1	5.65	5.65	0.86999	.	.	.	.	.	T	0.41534	0.1163	N	0.19112	0.55	0.37410	D	0.913184	D;D	0.53885	0.963;0.963	P;P	0.54026	0.74;0.74	T	0.41998	-0.9477	8	.	.	.	-4.0902	15.0632	0.71970	0.0:0.0:0.0:1.0	.	151;173	A6NJ97;Q86XN7	.;PRSR1_HUMAN	H	173;151;152	ENSP00000332034:N173H;ENSP00000339123:N151H	.	N	-	1	0	PROSER1	38496657	1.000000	0.71417	0.941000	0.38009	0.979000	0.70002	7.083000	0.76859	2.155000	0.67459	0.533000	0.62120	AAC	-	NULL		0.333	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	protein_coding	OTTHUMT00000044607.5	T	NM_025138	-		39598657	-1	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	SNP	0.989	G	G	39598657	T	G	39598657	3	3	165	1	0	0	0	0	1	0	0	0	1723	1754	61	5	2345	5	C13orf23	13	39598657	Missense_Mutation	SNP	T	TCGA-JV-A5VE-01A-11D-A29N-09		39598657	75571221	28	11719											
C13orf27	93081	genome.wustl.edu	37	chr13	103419825	103419825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttgagcccattgaaCgacctaaaatcaattaaaat	5	10	2	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr13:103419825C>T	ENST00000376032.4	-	5	491	c.302G>A	c.(301-303)cGt>cAt	p.R101H	TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376021.4_Missense_Mutation_p.R60H|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376019.1_Missense_Mutation_p.R60H|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376029.3_Intron	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	101										lung(1)|urinary_tract(1)	2						GCCCATTGAACGACCTAAAAT	0.368																																																	0								ENSG00000151287						48	45	46					13																	103419825		2203	4300	6503	TEX30	SO:0001583	missense	0			-	HGNC	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.302G>A	13.37:g.103419825C>T	ENSP00000365200:p.Arg101His	Somatic	0	27	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	17	48.48	Q5JUR8|Q96KZ8	Missense_Mutation	SNP							pfam_Dienelactn_hydro	p.R101H	ENST00000376032.4	37	c.302	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828970	0.90955	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	T;T;T	0.15372	2.43;2.43;2.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	M	0.63843	1.955	0.80722	D	1	D	0.61697	0.99	P	0.55011	0.766	T	0.06588	-1.0818	10	0.87932	D	0	-10.8175	19.4444	0.94841	0.0:1.0:0.0:0.0	.	101	Q5JUR7	CM027_HUMAN	H	60;60;101	ENSP00000365187:R60H;ENSP00000365189:R60H;ENSP00000365200:R101H	ENSP00000365187:R60H	R	-	2	0	C13orf27	102217826	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.028000	0.70889	2.658000	0.90341	0.585000	0.79938	CGT	-	NULL		0.368	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	protein_coding	OTTHUMT00000045691.4	C	NM_138779	-		103419825	-1	no_errors	ENST00000376032	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103419825	C	T	103419825	3	4	165	1	0	0	0	0	1	0	0	0	1725	536	19	1	389	1	C13orf27	13	103419825	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	63821168	103419825	11750053	29	11720											
EFS	10278	genome.wustl.edu	37	chr14	23828166	23828166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctagatccctgagctttGtccatgccctgcaggagggg	14	12	0	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr14:23828166G>T	ENST00000216733.3	-	5	1777	c.1170C>A	c.(1168-1170)gaC>gaA	p.D390E	EFS_ENST00000351354.3_Missense_Mutation_p.D297E|EFS_ENST00000429593.2_Missense_Mutation_p.D221E|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	390					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCTGAGCTTTGTCCATGCCCT	0.687																																																	0								ENSG00000100842						39	38	38					14																	23828166		2203	4300	6503	EFS	SO:0001583	missense	0			-	HGNC	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1170C>A	14.37:g.23828166G>T	ENSP00000216733:p.Asp390Glu	Somatic	0	39	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP							pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.D390E	ENST00000216733.3	37	c.1170	CCDS9595.1	14	.	.	.	.	.	.	.	.	.	.	G	4.131	0.022647	0.08006	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.21191	2.02;2.02;2.02	5.06	-0.273	0.12915	CAS family, DUF3513 (1);	0.442905	0.25657	N	0.029162	T	0.15522	0.0374	N	0.16567	0.415	0.25358	N	0.988808	B;B;D	0.69078	0.248;0.021;0.997	B;B;D	0.80764	0.079;0.016;0.994	T	0.34875	-0.9811	10	0.02654	T	1	-9.166	0.5279	0.00623	0.4469:0.1793:0.2004:0.1734	.	221;297;390	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	E	390;297;221	ENSP00000216733:D390E;ENSP00000340607:D297E;ENSP00000416684:D221E	ENSP00000216733:D390E	D	-	3	2	EFS	22898006	0.963000	0.33076	1.000000	0.80357	0.968000	0.65278	-0.252000	0.08806	0.133000	0.18654	-0.302000	0.09304	GAC	-	pfam_CAS_DUF3513		0.687	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	protein_coding	OTTHUMT00000071770.2	G		-		23828166	-1	no_errors	ENST00000216733	ensembl	human	known	74_37	missense	SNP	0.998	T	T	23828166	G	T	23828166	3	4	165	1	0	0	0	0	1	0	0	0	4961	1368	48	3	523	3	EFS	14	23828166	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		23828166	83521374	30	11721											
SDCCAG1	9147	genome.wustl.edu	37	chr14	50295796	50295796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcattgtaacatggtttGtttgtagttttaattctttg	9	4	1	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr14:50295796G>C	ENST00000298310.5	-	13	1657	c.1208C>G	c.(1207-1209)aCa>aGa	p.T403R	NEMF_ENST00000546046.1_Missense_Mutation_p.T403R|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.T361R			O60524	NEMF_HUMAN	nuclear export mediator factor	403					nuclear export (GO:0051168)	nucleus (GO:0005634)				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						AACATGGTTTGTTTGTAGTTT	0.348																																																	0								ENSG00000165525						179	174	176					14																	50295796		2203	4300	6503	NEMF	SO:0001583	missense	0			-	HGNC	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.1208C>G	14.37:g.50295796G>C	ENSP00000298310:p.Thr403Arg	Somatic	0	35	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	2	85.71	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP							pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.T403R	ENST00000298310.5	37	c.1208	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757549	0.49468	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.42131	0.99;0.98;0.99;0.98	5.34	5.34	0.76211	Fibronectin-binding A, N-terminal (1);	0.105408	0.64402	D	0.000006	T	0.52008	0.1708	L	0.41492	1.28	0.80722	D	1	B;B;B;B;D	0.55605	0.203;0.067;0.203;0.203;0.972	B;B;B;B;P	0.59825	0.099;0.064;0.142;0.061;0.864	T	0.34079	-0.9843	10	0.19590	T	0.45	-17.3322	19.0363	0.92980	0.0:0.0:1.0:0.0	.	403;174;378;361;403	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	R	403;361;403;174;361	ENSP00000298310:T403R;ENSP00000438309:T361R;ENSP00000441016:T403R;ENSP00000452540:T361R	ENSP00000298310:T403R	T	-	2	0	NEMF	49365546	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.263000	0.78421	2.496000	0.84212	0.591000	0.81541	ACA	-	pfam_Fibro-bd_N		0.348	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	protein_coding	OTTHUMT00000410798.1	G	NM_004713	-		50295796	-1	no_errors	ENST00000298310	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50295796	G	C	50295796	3	2	165	1	0	0	0	0	1	0	0	0	13965	1377	48	4	2106	4	SDCCAG1	14	50295796	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09	26467630	50295796	57053744	31	11722											
AHNAK2	113146	genome.wustl.edu	37	chr14	105420716	105420716	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcaccccagggccccaactCttccaggaccccagcacggc	8	20	2	0			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr14:105420716C>T	ENST00000333244.5	-	7	1191	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	358						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCCCAACTCTTCCAGGACC	0.637																																																	0								ENSG00000185567						43	44	44					14																	105420716		1927	4128	6055	AHNAK2	SO:0001583	missense	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1072G>A	14.37:g.105420716C>T	ENSP00000353114:p.Glu358Lys	Somatic	0	41	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E358K	ENST00000333244.5	37	c.1072	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	15.38	2.817891	0.50633	.	.	ENSG00000185567	ENST00000333244	T	0.03860	3.78	4.43	3.51	0.40186	.	.	.	.	.	T	0.05456	0.0144	L	0.47716	1.5	0.09310	N	1	P	0.36392	0.551	B	0.35688	0.208	T	0.31779	-0.9931	9	0.12430	T	0.62	.	11.557	0.50755	0.0:0.8186:0.1814:0.0	.	358	Q8IVF2	AHNK2_HUMAN	K	358	ENSP00000353114:E358K	ENSP00000353114:E358K	E	-	1	0	AHNAK2	104491761	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.516000	0.22817	0.946000	0.37632	0.585000	0.79938	GAG	-	NULL		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	C	NM_138420	-		105420716	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	SNP	0.006	T	T	105420716	C	T	105420716	3	4	165	1	0	0	0	0	1	0	0	0	415	922	32	2	16319	2	AHNAK2	14	105420716	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	55124920	105420716	1928824	32	11723											
ELL3	80237	genome.wustl.edu	37	chr15	44067551	44067551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcagtgcctgaacagGttctctgtttggaacatggg	15	7	1	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr15:44067551G>A	ENST00000319359.3	-	6	1239	c.598C>T	c.(598-600)Cct>Tct	p.P200S	ELL3_ENST00000497465.1_5'UTR|SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	200					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCCTGAACAGGTTCTCTGTTT	0.428																																																	0								ENSG00000128886						44	44	44					15																	44067551		2198	4298	6496	ELL3	SO:0001583	missense	0			-	HGNC	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.598C>T	15.37:g.44067551G>A	ENSP00000320346:p.Pro200Ser	Somatic	0	21	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP							pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.P200S	ENST00000319359.3	37	c.598	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173100	0.38413	.	.	ENSG00000128886	ENST00000319359	T	0.38560	1.13	5.8	3.94	0.45596	.	0.100322	0.44902	N	0.000412	T	0.51991	0.1707	M	0.75447	2.3	0.30816	N	0.738296	P;P;P	0.44380	0.834;0.834;0.834	P;P;P	0.52856	0.711;0.711;0.711	T	0.54450	-0.8292	10	0.27082	T	0.32	-30.1387	8.8297	0.35076	0.1711:0.0:0.8289:0.0	.	200;200;154	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	S	200	ENSP00000320346:P200S	ENSP00000320346:P200S	P	-	1	0	ELL3	41854843	0.220000	0.23631	0.650000	0.29550	0.263000	0.26337	1.407000	0.34657	0.811000	0.34303	0.455000	0.32223	CCT	-	pfam_RNA_pol_II_elong_fac_ELL		0.428	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	protein_coding	OTTHUMT00000133236.2	G	NM_025165	-		44067551	-1	no_errors	ENST00000319359	ensembl	human	known	74_37	missense	SNP	0.982	A	A	44067551	G	A	44067551	3	1	165	1	0	0	0	0	1	0	0	0	5066	1261	44	2	619	2	ELL3	15	44067551	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		44067551	58463841	33	11724											
ABCC11	85320	genome.wustl.edu	37	chr16	48218534	48218534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcatcagtcagcctcttAaacctgagaaggaaagcaca	9	11	3	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr16:48218534A>T	ENST00000394747.1	-	22	3424	c.3075T>A	c.(3073-3075)ttT>ttA	p.F1025L	ABCC11_ENST00000394748.1_Missense_Mutation_p.F1025L|ABCC11_ENST00000356608.2_Missense_Mutation_p.F1025L|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.F1025L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1025	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	TCAGCCTCTTAAACCTGAGAA	0.502																																																	0								ENSG00000121270						133	116	122					16																	48218534		2201	4300	6501	ABCC11	SO:0001583	missense	0			-	HGNC	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.3075T>A	16.37:g.48218534A>T	ENSP00000378230:p.Phe1025Leu	Somatic	0	31	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	3	86.36	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F1025L	ENST00000394747.1	37	c.3075	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581621	0.28180	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.48	3.17	0.36434	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.257343	0.38164	N	0.001790	D	0.84160	0.5411	L	0.53671	1.685	0.80722	D	1	B;B	0.29766	0.01;0.256	B;B	0.32090	0.017;0.14	T	0.73313	-0.4022	10	0.14656	T	0.56	-8.0738	3.4005	0.07321	0.6236:0.2397:0.1367:0.0	.	1025;1025	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	1025	ENSP00000311326:F1025L;ENSP00000349017:F1025L;ENSP00000378231:F1025L;ENSP00000378230:F1025L	ENSP00000311326:F1025L	F	-	3	2	ABCC11	46776035	0.986000	0.35501	0.766000	0.31476	0.025000	0.11179	0.716000	0.25836	0.908000	0.36671	-0.374000	0.07098	TTT	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.502	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	protein_coding	OTTHUMT00000429984.1	A	NM_032583	-		48218534	-1	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	SNP	0.987	T	T	48218534	A	T	48218534	3	4	165	1	0	0	0	0	1	0	0	0	51	359	13	5	1105	5	ABCC11	16	48218534	Missense_Mutation	SNP	A	TCGA-JV-A5VE-01A-11D-A29N-09		48218534	42136219	34	11725											
CNOT1	23019	genome.wustl.edu	37	chr16	58575428	58575428	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgggctgggctaaaaatcCcgtgggctgacttaagtcat	12	9	1	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr16:58575428C>G	ENST00000317147.5	-	34	5109	c.4777G>C	c.(4777-4779)Gga>Cga	p.G1593R	CNOT1_ENST00000569240.1_Missense_Mutation_p.G1588R|CNOT1_ENST00000245138.4_Missense_Mutation_p.G444R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1593	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTAAAAATCCCGTGGGCTGA	0.383																																																	0								ENSG00000125107						99	98	99					16																	58575428		2198	4300	6498	CNOT1	SO:0001583	missense	0			-	HGNC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4777G>C	16.37:g.58575428C>G	ENSP00000320949:p.Gly1593Arg	Somatic	0	32	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	4	78.95	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP							pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.G1593R	ENST00000317147.5	37	c.4777	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148884	0.78001	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.44881	0.91	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	L	0.47716	1.5	0.80722	D	1	P;P;P	0.47106	0.89;0.685;0.79	B;B;B	0.42361	0.231;0.214;0.385	T	0.12967	-1.0527	10	0.15066	T	0.55	-25.8097	19.9054	0.97006	0.0:1.0:0.0:0.0	.	444;1593;1588	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	1593;444;1588	ENSP00000320949:G1593R	ENSP00000245138:G444R	G	-	1	0	CNOT1	57132929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.092000	0.71414	2.698000	0.92095	0.655000	0.94253	GGA	-	NULL		0.383	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	C	NM_016284	-		58575428	-1	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	SNP	1.000	G	G	58575428	C	G	58575428	3	3	165	1	0	0	0	0	1	0	0	0	3619	632	22	4	2417	4	CNOT1	16	58575428	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	10356894	58575428	31779325	35	11726											
OR1G1	8390	genome.wustl.edu	37	chr17	3030180	3030180	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggatcttcaggatggtcgaGaaaacgttcgtgtaagagat	14	5	2	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr17:3030180G>C	ENST00000328890.2	-	1	695	c.666C>G	c.(664-666)ttC>ttG	p.F222L		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	222					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.F222F(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGATGGTCGAGAAAACGTTCG	0.507																																					Colon(127;1481 1654 8243 19426 50557)												1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000183024						92	89	90					17																	3030180		2203	4300	6503	OR1G1	SO:0001583	missense	0			-	HGNC	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.666C>G	17.37:g.3030180G>C	ENSP00000331545:p.Phe222Leu	Somatic	0	48	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	42.42	Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F222L	ENST00000328890.2	37	c.666	CCDS11020.1	17	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039548	0.19669	.	.	ENSG00000183024	ENST00000328890	T	0.00058	8.79	4.64	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11064	0.09	0.09310	N	1	B	0.18968	0.032	B	0.19666	0.026	T	0.26292	-1.0107	9	0.62326	D	0.03	.	2.3258	0.04222	0.1696:0.1529:0.5195:0.158	.	222	P47890	OR1G1_HUMAN	L	222	ENSP00000331545:F222L	ENSP00000331545:F222L	F	-	3	2	OR1G1	2976930	0.000000	0.05858	0.001000	0.08648	0.564000	0.35744	-0.819000	0.04462	0.184000	0.20083	0.523000	0.50628	TTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1G1	protein_coding	OTTHUMT00000207206.2	G		-		3030180	-1	no_errors	ENST00000328890	ensembl	human	known	74_37	missense	SNP	0.000	C	C	3030180	G	C	3030180	3	2	165	1	0	0	0	0	1	0	0	0	10959	933	33	4	279	4	OR1G1	17	3030180	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		3030180	78165030	36	11727											
TRIOBP	11078	genome.wustl.edu	37	chr22	38131171	38131171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacctggccagggctttaGggccagagctgggtccccca	14	13	0	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chr22:38131171G>A	ENST00000406386.3	+	9	5083	c.4828G>A	c.(4828-4830)Ggg>Agg	p.G1610R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1610					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGGGCTTTAGGGCCAGAGCT	0.662											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100106						28	35	33					22																	38131171		2014	4159	6173	TRIOBP	SO:0001583	missense	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4828G>A	22.37:g.38131171G>A	ENSP00000384312:p.Gly1610Arg	Somatic	0	43	0	875	0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	42.86	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G1610R	ENST00000406386.3	37	c.4828	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801421	0.50315	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.33438	1.41	5.42	5.42	0.78866	.	.	.	.	.	T	0.40015	0.1100	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.61940	0.896	T	0.24728	-1.0152	9	0.66056	D	0.02	.	14.7223	0.69317	0.0:0.0:1.0:0.0	.	1610	Q9H2D6	TARA_HUMAN	R	1610;1571	ENSP00000384312:G1610R	ENSP00000384312:G1610R	G	+	1	0	TRIOBP	36461117	0.056000	0.20664	0.025000	0.17156	0.257000	0.26127	1.400000	0.34577	2.539000	0.85634	0.563000	0.77884	GGG	-	NULL		0.662	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G		-		38131171	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	SNP	0.067	A	A	38131171	G	A	38131171	3	1	165	1	0	0	0	0	1	0	0	0	16560	1000	35	2	4854	2	TRIOBP	22	38131171	Missense_Mutation	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		38131171	13173395	37	11728											
FAM9B	171483	genome.wustl.edu	37	chrX	8997396	8997396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcctctttctgctcGtctgtgatgtattcttcaag	6	11	7	1	rs150312431		TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chrX:8997396G>A	ENST00000327220.5	-	6	709	c.345C>T	c.(343-345)gaC>gaT	p.D115D	FAM9B_ENST00000428477.1_Silent_p.D115D|FAM9B_ENST00000362066.3_Silent_p.D155D			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	115						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				cttTCTGCTCGTCTGTGATGT	0.378													G|||	1	0.000264901	0	0	3775	,	,		14751	0		0	False		,,,				2504	0.001																0								ENSG00000177138	G		1,3833		0,1,0,1631,570	216	159	178		345	-0.9	0	X	dbSNP_134	178	1,6727		0,0,1,2428,1871	no	coding-synonymous	FAM9B	NM_205849.2		0,1,1,4059,2441	AA,AG,A,GG,G		0.0149,0.0261,0.0189		115/187	8997396	2,10560	2202	4300	6502	FAM9B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.345C>T	X.37:g.8997396G>A		Somatic	0	67	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	Q0IJ68|Q8N7Z8	Silent	SNP							pfam_Cor1/Xlr/Xmr	p.D115	ENST00000327220.5	37	c.345	CCDS14132.1	X																																																																																			-	pfam_Cor1/Xlr/Xmr		0.378	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9B	protein_coding	OTTHUMT00000055702.2	G	NM_205849	rs150312431		8997396	-1	no_errors	ENST00000327220	ensembl	human	known	74_37	silent	SNP	0.000	A	A	8997396	G	A	8997396	2	1	165	1	0	0	0	0	0	0	0	1	5662	1136	40	1		1	FAM9B	23	8997396	Silent	SNP	G	TCGA-JV-A5VE-01A-11D-A29N-09		8997396	146273164	38	11729											
PHKA2	5256	genome.wustl.edu	37	chrX	18915280	18915280	+	Splice_Site	DEL	C	C	-													ggagctcgcgtctcggcttaCcttctggaggatcttccaca							TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chrX:18915280delC	ENST00000379942.4	-	30	3948		c.e30+1		PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCTCGGCTTACCTTCTGGAGG	0.622																																																	0								ENSG00000044446						120	117	118					X																	18915280		2203	4300	6503	PHKA2	SO:0001630	splice_region_variant	0				HGNC		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3282+1G>-	X.37:g.18915280delC		Somatic	0	62	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	32	55.56	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	DEL							-	e30+1	ENST00000379942.4	37	c.3282+1	CCDS14190.1	X																																																																																			-	-		0.622	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	protein_coding	OTTHUMT00000055960.1	C	NM_000292		Intron	18915280	-1	no_errors	ENST00000379942	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	18915280	C	-	18915280	8	5	165	1	0	1	0	1	0	0	1	0	11846	521	18	0	440	0	PHKA2	23	18915280	Splice_Site	DEL	C	TCGA-JV-A5VE-01A-11D-A29N-09	9917884	18915280	136355280	39	11730											
NHSL2	340527	genome.wustl.edu	37	chrX	71359451	71359451	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caccttccacctccagagccActacaccttcccaactctcc	2	22	1	1			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chrX:71359451A>T	ENST00000373677.1	+	2	2217	c.955A>T	c.(955-957)Act>Tct	p.T319S	NHSL2_ENST00000535692.1_Missense_Mutation_p.T319S|NHSL2_ENST00000510661.1_Missense_Mutation_p.T454S|NHSL2_ENST00000540800.1_Missense_Mutation_p.T685S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	319	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTCCAGAGCCACTACACCTTC	0.592																																																	0								ENSG00000204131						53	45	47					X																	71359451		2203	4300	6503	NHSL2	SO:0001583	missense	0			-	HGNC			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.955A>T	X.37:g.71359451A>T	ENSP00000362781:p.Thr319Ser	Somatic	0	26	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	B2RN94	Missense_Mutation	SNP							NULL	p.T685S	ENST00000373677.1	37	c.2053		X	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632717	0.67015	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.58652	1.24;0.37;0.32;0.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	L	0.55213	1.73	0.47994	D	0.999563	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.74106	-0.3772	10	0.87932	D	0	-11.4435	13.0145	0.58749	1.0:0.0:0.0:0.0	.	685;454;319	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	685;319;454;319	ENSP00000444617:T685S;ENSP00000362781:T319S;ENSP00000424079:T454S;ENSP00000444914:T319S	ENSP00000362781:T319S	T	+	1	0	NHSL2	71276176	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.285000	0.78660	1.982000	0.57802	0.486000	0.48141	ACT	-	NULL		0.592	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	protein_coding	OTTHUMT00000057170.1	A	NM_001013627	-		71359451	1	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71359451	A	T	71359451	3	4	165	1	0	0	0	0	1	0	0	0	10414	159	6	5	2075	5	NHSL2	23	71359451	Missense_Mutation	SNP	A	TCGA-JV-A5VE-01A-11D-A29N-09	52444171	71359451	83911109	40	11731											
ATRX	546	genome.wustl.edu	37	chrX	76814204	76814204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgataaactctgaatataCtctggatgtcataagatgga	9	6	3	2			TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chrX:76814204C>A	ENST00000373344.5	-	29	6654	c.6440G>T	c.(6439-6441)aGt>aTt	p.S2147I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S2109I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2147	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTGAATATACTCTGGATGTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						86	83	84					X																	76814204		2203	4294	6497	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6440G>T	X.37:g.76814204C>A	ENSP00000362441:p.Ser2147Ile	Somatic	0	74	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	59	28.05	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S2147I	ENST00000373344.5	37	c.6440	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498344	0.64186	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.74632	-0.86;-0.86	5.21	5.21	0.72293	Helicase, C-terminal (3);	0.000000	0.85682	U	0.000000	D	0.88306	0.6401	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90585	0.4532	10	0.87932	D	0	-9.1076	17.8291	0.88676	0.0:1.0:0.0:0.0	.	2109;2147	P46100-4;P46100	.;ATRX_HUMAN	I	2147;2109	ENSP00000362441:S2147I;ENSP00000378967:S2109I	ENSP00000362441:S2147I	S	-	2	0	ATRX	76700860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.141000	0.66446	0.600000	0.82982	AGT	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76814204	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76814204	C	A	76814204	3	1	165	1	0	0	0	0	1	0	0	0	1208	565	20	3	1066	3	ATRX	23	76814204	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	5454753	76814204	78456356	41	11732											
FAM122B	159090	genome.wustl.edu	37	chrX	133922772	133922772	+	Missense_Mutation	SNP	C	C	A													tatcctacctttccgaatccCctggtgggtgaaggtgctgg							TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chrX:133922772C>A	ENST00000370790.1	-	5	1294	c.366G>T	c.(364-366)agG>agT	p.R122S	FAM122B_ENST00000486347.1_Missense_Mutation_p.R122S|FAM122B_ENST00000298090.6_Missense_Mutation_p.R141S|FAM122B_ENST00000343004.5_Missense_Mutation_p.R141S|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	122										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTCCGAATCCCCTGGTGGGTG	0.388																																																	0								ENSG00000156504						90	80	83					X																	133922772		2203	4300	6503	FAM122B	SO:0001583	missense	0			-	HGNC	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.366G>T	X.37:g.133922772C>A	ENSP00000359826:p.Arg122Ser	Somatic	0	59	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	39.34	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP							NULL	p.R141S	ENST00000370790.1	37	c.423	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313248	0.60414	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000486347	.	.	.	5.56	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.70771	0.3262	M	0.69248	2.105	0.58432	D	0.999998	D;D;D;D;D;D	0.76494	0.999;0.996;0.992;0.997;0.997;0.999	D;P;D;D;D;D	0.91635	0.999;0.895;0.974;0.993;0.993;0.925	T	0.69258	-0.5192	9	0.48119	T	0.1	.	9.2668	0.37645	0.0:0.0867:0.0:0.9133	.	88;141;69;122;122;141	B4DN12;G1UD80;Q7Z309-5;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;.;.;F122B_HUMAN;.	S	122;141;141;122	.	ENSP00000298090:R141S	R	-	3	2	FAM122B	133750438	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.922000	0.40045	0.755000	0.32990	-0.407000	0.06327	AGG	-	NULL		0.388	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	protein_coding	OTTHUMT00000058382.1	C	NM_145284	-		133922772	-1	no_errors	ENST00000343004	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133922772	C	A	133922772	3	1	165	1	0	0	0	0	1	0	0	0	5422	622	22	3	474	3	FAM122B	23	133922772	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	57108568	133922772	21347788	42	11733	182	2									
FAM122B	159090	genome.wustl.edu	37	chrX	133922773	133922773	+	Missense_Mutation	SNP	C	C	G													atcctacctttccgaatcccCtggtgggtgaaggtgctgga							TCGA-JV-A5VE-01A-11D-A29N-09	TCGA-JV-A5VE-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2809193b-495e-4159-9be7-fd3e2f4192b5	ca89a56f-8f9e-485f-8106-8c0c0cc69ded	g.chrX:133922773C>G	ENST00000370790.1	-	5	1293	c.365G>C	c.(364-366)aGg>aCg	p.R122T	FAM122B_ENST00000486347.1_Missense_Mutation_p.R122T|FAM122B_ENST00000298090.6_Missense_Mutation_p.R141T|FAM122B_ENST00000343004.5_Missense_Mutation_p.R141T|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	122										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TCCGAATCCCCTGGTGGGTGA	0.388																																																	0								ENSG00000156504						90	80	83					X																	133922773		2203	4300	6503	FAM122B	SO:0001583	missense	0			-	HGNC	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.365G>C	X.37:g.133922773C>G	ENSP00000359826:p.Arg122Thr	Somatic	0	56	0		0.701056433689963				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	37	39.34	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP							NULL	p.R141T	ENST00000370790.1	37	c.422	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251275	0.80135	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000486347	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	D	0.84465	0.5478	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.996;0.992;0.997;0.997;0.999	D;P;D;D;D;D	0.91635	0.999;0.895;0.974;0.993;0.993;0.925	D	0.87017	0.2126	9	0.66056	D	0.02	.	17.4014	0.87460	0.0:1.0:0.0:0.0	.	88;141;69;122;122;141	B4DN12;G1UD80;Q7Z309-5;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;.;.;F122B_HUMAN;.	T	122;141;141;122	.	ENSP00000298090:R141T	R	-	2	0	FAM122B	133750439	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.468000	0.66743	2.322000	0.78497	0.523000	0.50628	AGG	-	NULL		0.388	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	protein_coding	OTTHUMT00000058382.1	C	NM_145284	-		133922773	-1	no_errors	ENST00000343004	ensembl	human	known	74_37	missense	SNP	1.000	G	G	133922773	C	G	133922773	3	3	165	1	0	0	0	0	1	0	0	0	5422	681	24	4	475	4	FAM122B	23	133922773	Missense_Mutation	SNP	C	TCGA-JV-A5VE-01A-11D-A29N-09	1	133922773	21347787	43	11734	182	2									
AADACL4	343066	genome.wustl.edu	37	chr1	12704626	12704626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcctgggggtctttGtctgggctgtctttgagcac	12	9	4	1	rs201386716		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr1:12704626G>T	ENST00000376221.1	+	1	61	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	21						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGGGTCTTTGTCTGGGCTGT	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		20136	0		0	False		,,,				2504	0																0								ENSG00000204518						199	172	181					1																	12704626		2203	4300	6503	AADACL4	SO:0001583	missense	0			GMAF=0	HGNC		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.61G>T	1.37:g.12704626G>T	ENSP00000365395:p.Val21Phe	Somatic	0	114	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	99	28.78		Missense_Mutation	SNP							pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.V21F	ENST00000376221.1	37	c.61	CCDS30590.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.04	2.417607	0.42918	.	.	ENSG00000204518	ENST00000376221	T	0.05025	3.51	3.89	-3.87	0.04218	.	0.597841	0.14479	N	0.317057	T	0.06142	0.0159	L	0.54323	1.7	0.09310	N	1	P	0.48503	0.911	B	0.43018	0.405	T	0.15178	-1.0446	10	0.49607	T	0.09	-7.0196	5.378	0.16176	0.3058:0.4435:0.2507:0.0	.	21	Q5VUY2	ADCL4_HUMAN	F	21	ENSP00000365395:V21F	ENSP00000365395:V21F	V	+	1	0	AADACL4	12627213	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.688000	0.01925	-0.503000	0.06586	-0.291000	0.09656	GTC	-	pirsf_Arylacetamide_deacetylase		0.547	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	protein_coding	OTTHUMT00000005328.1	G	NM_001013630	rs201386716		12704626	1	no_errors	ENST00000376221	ensembl	human	known	74_37	missense	SNP	0.000	T	T	12704626	G	T	12704626	3	4	166	1	0	0	0	0	1	0	0	0	13	1377	48	3	63	3	AADACL4	1	12704626	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		12704626	236545995	1	11735											
TIE1	7075	genome.wustl.edu	37	chr1	43779614	43779614	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcctgcatcggagacGcaccttcacctaccagtcag	9	15	2	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr1:43779614G>C	ENST00000372476.3	+	14	2463	c.2384G>C	c.(2383-2385)cGc>cCc	p.R795P	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R440P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	795					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCGGAGACGCACCTTCACC	0.607																																																	0								ENSG00000066056						65	58	60					1																	43779614		2203	4300	6503	TIE1	SO:0001583	missense	0			-	HGNC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2384G>C	1.37:g.43779614G>C	ENSP00000361554:p.Arg795Pro	Somatic	0	60	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92	B5A949|B5A950	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R795P	ENST00000372476.3	37	c.2384	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582389	0.86748	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.77750	-1.08;-1.12	5.73	4.81	0.61882	.	0.187103	0.26190	N	0.025807	T	0.78723	0.4328	L	0.43923	1.385	0.80722	D	1	D;P;P;P	0.53885	0.963;0.921;0.938;0.937	P;P;P;P	0.55545	0.778;0.712;0.605;0.774	T	0.74115	-0.3769	10	0.13853	T	0.58	.	14.7759	0.69732	0.0709:0.0:0.9291:0.0	.	440;750;440;795	E9PG63;B4DTW8;B4DKW0;P35590	.;.;.;TIE1_HUMAN	P	795;198;78;440	ENSP00000361554:R795P;ENSP00000411728:R440P	ENSP00000361553:R198P	R	+	2	0	TIE1	43552201	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.471000	0.80985	1.399000	0.46721	0.655000	0.94253	CGC	-	NULL		0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	protein_coding	OTTHUMT00000019011.1	G	NM_005424	-		43779614	1	no_errors	ENST00000372476	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43779614	G	C	43779614	3	2	166	1	0	0	0	0	1	0	0	0	15900	1087	38	4	2438	4	TIE1	1	43779614	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09	31074988	43779614	205471007	2	11736											
DPM3	54344	genome.wustl.edu	37	chr1	155112582	155112600	+	Frame_Shift_Del	DEL	CAAGTAGGCGGGCAGTGGC	CAAGTAGGCGGGCAGTGGC	-													tagcagccggcggacaccagCaagtaggcgggcagtggcca							TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	CAAGTAGGCGGGCAGTGGC	CAAGTAGGCGGGCAGTGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr1:155112582_155112600delCAAGTAGGCGGGCAGTGGC	ENST00000341298.3	-	2	252_270	c.117_135delGCCACTGCCCGCCTACTTG	c.(115-135)tggccactgcccgcctacttgfs	p.WPLPAYL39fs	DPM3_ENST00000368399.1_Frame_Shift_Del_p.WPLPAYL69fs|DPM3_ENST00000368400.4_Frame_Shift_Del_p.WPLPAYL39fs			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	39					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)		p.P72P(1)		endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTT	0.653																																																	1	Substitution - coding silent(1)	endometrium(1)						ENSG00000179085																																			DPM3	SO:0001589	frameshift_variant	0				HGNC	AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.117_135delGCCACTGCCCGCCTACTTG	1.37:g.155112582_155112600delCAAGTAGGCGGGCAGTGGC	ENSP00000344338:p.Trp39fs	Somatic					0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Frame_Shift_Del	DEL							pfam_DPM3	p.W39fs	ENST00000341298.3	37	c.135_117	CCDS1095.1	1																																																																																			-	pfam_DPM3		0.653	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPM3	protein_coding	OTTHUMT00000085519.1	CAAGTAGGCGGGCAGTGGC	NM_153741			155112600	-1	no_errors	ENST00000341298	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:0.996:0.988:1.000:1.000:1.000	-	-	155112600	CAAGTAGGCGGGCAGTGGC	-	155112582	7	5	166	1	0	1	0	1	0	0	0	0	4728	709	25	0	147	0	DPM3	1	155112582	Frame_Shift_Del	DEL	CAAGTAGGCGGGCAGTGGC	TCGA-JV-A5VF-01A-11D-A29N-09	111332968	155112582	94138039	3	11737											
HSPA6	3310	genome.wustl.edu	37	chr1	161494965	161494965	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggggctcaacgtgttgCggatcatcaatgagcccacg	13	12	3	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr1:161494965C>A	ENST00000309758.4	+	1	930	c.517C>A	c.(517-519)Cgg>Agg	p.R173R	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	173			R -> P (in dbSNP:rs41297708). {ECO:0000269|Ref.2}.		ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAACGTGTTGCGGATCATCAA	0.662																																																	0								ENSG00000173110						32	36	35					1																	161494965		2203	4298	6501	HSPA6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.517C>A	1.37:g.161494965C>A		Somatic	0	52	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R173	ENST00000309758.4	37	c.517	CCDS1231.1	1																																																																																			-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.662	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	protein_coding	OTTHUMT00000083308.1	C	NM_002155	-		161494965	1	no_errors	ENST00000309758	ensembl	human	known	74_37	silent	SNP	0.998	A	A	161494965	C	A	161494965	2	1	166	1	0	0	0	0	0	0	0	1	7417	759	27	3		3	HSPA6	1	161494965	Silent	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	6382383	161494965	87755656	4	11738											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217340155	217340155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctggtggtgtttgctgAgctgttttggaacccagggg	16	7	0	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr2:217340155A>G	ENST00000357276.4	+	15	2738	c.2408A>G	c.(2407-2409)gAg>gGg	p.E803G	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.E803G	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	803	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GTGTTTGCTGAGCTGTTTTGG	0.582									Schimke Immuno-Osseous Dysplasia																																								0								ENSG00000138375						108	99	102					2																	217340155		2203	4300	6503	SMARCAL1	SO:0001583	missense	0	Familial Cancer Database	SIOD	-	HGNC	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2408A>G	2.37:g.217340155A>G	ENSP00000349823:p.Glu803Gly	Somatic	0	63	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	19	58.70	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP							pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E803G	ENST00000357276.4	37	c.2408	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427445	0.83667	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.92647	-3.08;-3.08;-0.93	5.13	5.13	0.70059	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98243	1.0489	10	0.87932	D	0	-28.7131	14.2793	0.66200	1.0:0.0:0.0:0.0	.	803	Q9NZC9	SMAL1_HUMAN	G	803;803;645	ENSP00000349823:E803G;ENSP00000350940:E803G;ENSP00000375974:E645G	ENSP00000349823:E803G	E	+	2	0	SMARCAL1	217048400	1.000000	0.71417	0.735000	0.30896	0.967000	0.64934	8.951000	0.93025	2.154000	0.67381	0.528000	0.53228	GAG	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.582	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	A		-		217340155	1	no_errors	ENST00000357276	ensembl	human	known	74_37	missense	SNP	1.000	G	G	217340155	A	G	217340155	3	3	166	1	0	0	0	0	1	0	0	0	14781	304	11	5	2458	5	SMARCAL1	2	217340155	Missense_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09		217340155	25859218	5	11739											
USP4	7375	genome.wustl.edu	37	chr3	49363168	49363168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaatggtgtctgccttGctgaaatggcaactcagcac	9	12	3	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr3:49363168G>T	ENST00000265560.4	-	4	517	c.471C>A	c.(469-471)agC>agA	p.S157R	USP4_ENST00000351842.4_Missense_Mutation_p.S157R|USP4_ENST00000415188.1_Missense_Mutation_p.S157R|USP4_ENST00000416417.1_Missense_Mutation_p.S157R	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	157	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGTCTGCCTTGCTGAAATGGC	0.517																																																	0								ENSG00000114316						226	219	222					3																	49363168		2203	4300	6503	USP4	SO:0001583	missense	0			-	HGNC	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.471C>A	3.37:g.49363168G>T	ENSP00000265560:p.Ser157Arg	Somatic	0	69	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.S157R	ENST00000265560.4	37	c.471	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685738	0.68157	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.38560	1.7;1.78;1.13	5.69	4.82	0.62117	.	0.147023	0.85682	D	0.000000	T	0.57858	0.2082	L	0.52126	1.63	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.979	T	0.61133	-0.7124	10	0.87932	D	0	-8.1852	13.3845	0.60789	0.0761:0.0:0.9238:0.0	.	157;157	Q13107-2;Q13107	.;UBP4_HUMAN	R	157	ENSP00000341028:S157R;ENSP00000265560:S157R;ENSP00000400623:S157R	ENSP00000265560:S157R	S	-	3	2	USP4	49338172	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.465000	0.60141	1.433000	0.47394	-0.361000	0.07541	AGC	-	NULL		0.517	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	protein_coding	OTTHUMT00000346069.1	G	NM_199443	-		49363168	-1	no_errors	ENST00000265560	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49363168	G	T	49363168	3	4	166	1	0	0	0	0	1	0	0	0	17078	1310	46	3	2496	3	USP4	3	49363168	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		49363168	148659262	6	11740											
KALRN	8997	genome.wustl.edu	37	chr3	124376359	124376359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggaaaggacaaaatcgTgtttggaaatattcatcaga	11	5	2	1	rs537115296		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr3:124376359T>A	ENST00000291478.5	+	7	996	c.833T>A	c.(832-834)gTg>gAg	p.V278E	KALRN_ENST00000459915.1_Missense_Mutation_p.V67E|KALRN_ENST00000360013.3_Missense_Mutation_p.V1975E|KALRN_ENST00000393496.1_Missense_Mutation_p.V316E|KALRN_ENST00000428018.2_Missense_Mutation_p.V246E	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1974					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACAAAATCGTGTTTGGAAAT	0.443																																																	0								ENSG00000160145						130	122	124					3																	124376359		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.833T>A	3.37:g.124376359T>A	ENSP00000291478:p.Val278Glu	Somatic	0	41	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V1975E	ENST00000291478.5	37	c.5924	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.6|26.6	4.752132|4.752132	0.89753|0.89753	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	.|T;T;T;T;T	.|0.70869	.|-0.52;-0.52;-0.52;-0.52;-0.52	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.88559|0.88559	0.6469|0.6469	H|H	0.95187|0.95187	3.635|3.635	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	.|0.97110	.|1.0;1.0;0.999;1.0	D|D	0.91977|0.91977	0.5591|0.5591	5|10	.|0.87932	.|D	.|0	.|.	15.0251|15.0251	0.71663|0.71663	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|67;278;316;1974	.|E7EUZ8;C9JQ37;O60229-5;O60229	.|.;.;.;KALRN_HUMAN	S|E	1944|1975;316;278;246;67	.|ENSP00000353109:V1975E;ENSP00000377134:V316E;ENSP00000291478:V278E;ENSP00000402419:V246E;ENSP00000420318:V67E	.|ENSP00000291478:V278E	C|V	+|+	1|2	0|0	KALRN|KALRN	125859049|125859049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.718000|7.718000	0.84743|0.84743	2.127000|2.127000	0.65507|0.65507	0.533000|0.533000	0.62120|0.62120	TGT|GTG	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.443	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000246891.5	T	NM_003947	-		124376359	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124376359	T	A	124376359	3	1	166	1	0	0	0	0	1	0	0	0	7977	1696	59	5	6238	5	KALRN	3	124376359	Missense_Mutation	SNP	T	TCGA-JV-A5VF-01A-11D-A29N-09	75013191	124376359	73646071	7	11741											
SULT1B1	27284	genome.wustl.edu	37	chr4	70596312	70596312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcatcacttcaaatgAggtgtgatggatgatcctat	9	8	3	3			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr4:70596312A>G	ENST00000310613.3	-	7	982	c.685T>C	c.(685-687)Tca>Cca	p.S229P		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	229					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						ACTTCAAATGAGGTGTGATGG	0.363																																																	0								ENSG00000173597						170	155	160					4																	70596312		2203	4300	6503	SULT1B1	SO:0001583	missense	0			-	HGNC	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.685T>C	4.37:g.70596312A>G	ENSP00000308770:p.Ser229Pro	Somatic	0	41	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S229P	ENST00000310613.3	37	c.685	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165765	0.57476	.	.	ENSG00000173597	ENST00000310613	T	0.03035	4.07	4.09	4.09	0.47781	Sulfotransferase domain (1);	0.000000	0.40728	N	0.001021	T	0.28101	0.0693	H	0.98089	4.145	0.42169	D	0.991638	D	0.76494	0.999	D	0.68943	0.961	T	0.45934	-0.9227	10	0.87932	D	0	.	11.3366	0.49507	1.0:0.0:0.0:0.0	.	229	O43704	ST1B1_HUMAN	P	229	ENSP00000308770:S229P	ENSP00000308770:S229P	S	-	1	0	SULT1B1	70630901	0.995000	0.38212	0.795000	0.32087	0.841000	0.47740	3.414000	0.52693	1.633000	0.50488	0.383000	0.25322	TCA	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.363	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	protein_coding	OTTHUMT00000251563.2	A	NM_014465	-		70596312	-1	no_errors	ENST00000310613	ensembl	human	known	74_37	missense	SNP	0.939	G	G	70596312	A	G	70596312	3	3	166	1	0	0	0	0	1	0	0	0	15383	304	11	5	213	5	SULT1B1	4	70596312	Missense_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09		70596312	120557964	8	11742											
C6orf15	29113	genome.wustl.edu	37	chr6	31079360	31079360	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattaatatttccccagctgCctcctggataccgattaata	6	11	0	0			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr6:31079360C>G	ENST00000259870.3	-	2	779	c.776G>C	c.(775-777)gGc>gCc	p.G259A		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	259	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCCCAGCTGCCTCCTGGATA	0.517																																																	0								ENSG00000204542						60	71	67					6																	31079360		1734	3327	5061	C6orf15	SO:0001583	missense	0			-	HGNC	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.776G>C	6.37:g.31079360C>G	ENSP00000259870:p.Gly259Ala	Somatic	0	35	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP							NULL	p.G259A	ENST00000259870.3	37	c.776	CCDS4693.1	6	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333313	0.11013	.	.	ENSG00000204542	ENST00000259870	T	0.06142	3.34	3.45	1.39	0.22231	.	1.539810	0.04087	N	0.310585	T	0.02304	0.0071	L	0.43152	1.355	0.09310	N	1	P	0.35192	0.489	B	0.39465	0.3	T	0.44832	-0.9302	10	0.07482	T	0.82	.	10.8849	0.46962	0.0:0.6133:0.3867:0.0	.	259	Q6UXA7	CF015_HUMAN	A	259	ENSP00000259870:G259A	ENSP00000259870:G259A	G	-	2	0	C6orf15	31187339	0.001000	0.12720	0.002000	0.10522	0.043000	0.13939	-0.035000	0.12205	0.607000	0.29982	0.391000	0.25812	GGC	-	NULL		0.517	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf15	protein_coding	OTTHUMT00000076184.2	C	NM_014070	-		31079360	-1	no_errors	ENST00000259870	ensembl	human	known	74_37	missense	SNP	0.000	G	G	31079360	C	G	31079360	3	3	166	1	0	0	0	0	1	0	0	0	2338	739	26	4	205	4	C6orf15	6	31079360	Missense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09		31079360	140035707	9	11743											
BAT3	7917	genome.wustl.edu	37	chr6	31613261	31613261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaccacatgcaggtgtcGtgggggcgtgcaggccagat	17	11	0	1	rs556160544		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr6:31613261G>A	ENST00000375964.6	-	9	1370	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Nonsense_Mutation_p.R347*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.R347*|BAG6_ENST00000439687.2_Nonsense_Mutation_p.R347*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.R347*|BAG6_ENST00000211379.5_Nonsense_Mutation_p.R347*	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	353	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGCAGGTGTCGTGGGGGCGTG	0.607																																																	0								ENSG00000204463						105	93	97					6																	31613261		1509	2709	4218	BAG6	SO:0001587	stop_gained	0			-	HGNC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1057C>T	6.37:g.31613261G>A	ENSP00000365131:p.Arg353*	Somatic	0	35	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Nonsense_Mutation	SNP							pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.R347*	ENST00000375964.6	37	c.1039	CCDS47403.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.852138|8.852138	0.98978|0.98978	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000436214;ENST00000435080|ENST00000453833	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.51024	.|0.1650	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54111	.|-0.8342	.|3	0.02654|.	T|.	1|.	.|.	12.2768|12.2768	0.54739|0.54739	0.0:0.0:0.83:0.1699|0.0:0.0:0.83:0.1699	.|.	.|.	.|.	.|.	X|M	347;353;347;347;347;347;347;3;347|7	.|.	ENSP00000211379:R347X|.	R|T	-|-	1|2	2|0	BAG6|BAG6	31721240|31721240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.310000|4.310000	0.59141|0.59141	2.322000|2.322000	0.78497|0.78497	0.650000|0.650000	0.86243|0.86243	CGA|ACG	-	pfam_DUF3538		0.607	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	protein_coding		G	NM_080703	-		31613261	-1	no_errors	ENST00000404765	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	31613261	G	A	31613261	4	1	166	1	0	0	0	0	0	1	0	0	1322	1153	40	1	2409	1	BAT3	6	31613261	Nonsense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09	533901	31613261	139501806	10	11744											
PTCRA	171558	genome.wustl.edu	37	chr6	42893006	42893006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctcgcagggacaccGggtggggcgctgtggctggg	18	12	0	0			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr6:42893006G>A	ENST00000304672.1	+	4	513	c.432G>A	c.(430-432)ccG>ccA	p.P144P	PTCRA_ENST00000446507.1_Silent_p.P37P|PTCRA_ENST00000441198.1_Silent_p.P119P	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	144					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CAGGGACACCGGGTGGGGCGC	0.706																																																	0								ENSG00000171611																																			PTCRA	SO:0001819	synonymous_variant	0			-	HGNC	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.432G>A	6.37:g.42893006G>A		Somatic	0	23	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	Q5TFZ7	Silent	SNP							NULL	p.P144	ENST00000304672.1	37	c.432	CCDS4874.1	6																																																																																			-	NULL		0.706	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCRA	protein_coding	OTTHUMT00000040565.2	G	NM_138296	-		42893006	1	no_errors	ENST00000304672	ensembl	human	known	74_37	silent	SNP	0.000	A	A	42893006	G	A	42893006	2	1	166	1	0	0	0	0	0	0	0	1	12740	1103	39	1		1	PTCRA	6	42893006	Silent	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09	11279745	42893006	128222061	11	11745											
PRIM2	5558	genome.wustl.edu	37	chr6	57244708	57244730	+	Frame_Shift_Del	DEL	GAAGAGAAGACTCTTCGAGAACA	GAAGAGAAGACTCTTCGAGAACA	-													tgtttttttagataagtgatGaagagaagactcttcgagaa					rs371513676		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	GAAGAGAAGACTCTTCGAGAACA	GAAGAGAAGACTCTTCGAGAACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr6:57244708_57244730delGAAGAGAAGACTCTTCGAGAACA	ENST00000607273.1	+	6	556_578	c.469_491delGAAGAGAAGACTCTTCGAGAACA	c.(469-492)gaagagaagactcttcgagaacagfs	p.EEKTLREQ157fs	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	157					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.R162*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATAAGTGATGAAGAGAAGACTCTTCGAGAACAGGAGATTGTT	0.318																																																	1	Substitution - Nonsense(1)	NS(1)						ENSG00000146143																																			PRIM2	SO:0001589	frameshift_variant	0				HGNC		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.469_491delGAAGAGAAGACTCTTCGAGAACA	6.37:g.57244708_57244730delGAAGAGAAGACTCTTCGAGAACA	ENSP00000475738:p.Glu157fs	Somatic					0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Frame_Shift_Del	DEL							pfam_DNA_primase_lsu_euk/arc	p.E157fs	ENST00000607273.1	37	c.469_491		6																																																																																			-	NULL		0.318	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	protein_coding		GAAGAGAAGACTCTTCGAGAACA	NM_000947			57244730	1	no_errors	ENST00000607273	ensembl	human	known	74_37	frame_shift_del	DEL	0.969:0.974:0.973:0.998:1.000:0.995:0.997:0.988:0.957:0.200:0.000:0.000:0.000:0.000:0.000:0.155:0.176:0.222:0.283:0.274:0.142:0.120:0.114	-	-	57244730	GAAGAGAAGACTCTTCGAGAACA	-	57244708	7	5	166	1	0	1	0	1	0	0	0	0	12496	1291	45	0	487	0	PRIM2	6	57244708	Frame_Shift_Del	DEL	GAAGAGAAGACTCTTCGAGAACA	TCGA-JV-A5VF-01A-11D-A29N-09	14351702	57244708	113870359	12	11746											
ZNF679	168417	genome.wustl.edu	37	chr7	63727246	63727246	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccctacaaatgtgaatAatgtgataaagtccagcctt	7	8	0	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr7:63727246A>C	ENST00000421025.1	+	5	1504	c.1235A>C	c.(1234-1236)tAa>tCa	p.*412S	ZNF679_ENST00000255746.4_Nonstop_Mutation_p.*412S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	0					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(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAATGTGAATAATGTGATAAA	0.348																																																	0								ENSG00000197123						15	14	14					7																	63727246		692	1589	2281	ZNF679	SO:0001578	stop_lost	0			-	HGNC	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1235A>C	7.37:g.63727246A>C	ENSP00000416809:p.*412Serext*18	Somatic	0	27	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15		Nonstop_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.*412S	ENST00000421025.1	37	c.1235	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	A	2.116	-0.402482	0.04865	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.819	0.819	0.18785	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7374	0.08515	1.0:0.0:0.0:0.0	.	.	.	.	S	412	.	.	X	+	2	2	ZNF679	63364681	0.000000	0.05858	0.184000	0.23157	0.184000	0.23303	0.147000	0.16202	0.165000	0.19558	0.163000	0.16589	TAA	-	NULL		0.348	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	protein_coding	OTTHUMT00000344317.2	A	NM_153363	-		63727246	1	no_errors	ENST00000255746	ensembl	human	known	74_37	nonstop	SNP	0.004	C	C	63727246	A	C	63727246	4	2	166	1	0	0	0	0	0	0	0	0	18093	369	13	5	1249	5	ZNF679	7	63727246	Nonstop_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09		63727246	95411417	13	11747											
VCPIP1	80124	genome.wustl.edu	37	chr8	67577245	67577245	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtctgatgcaatataGtgtggacaactttctgaact	10	7	2	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr8:67577245G>C	ENST00000310421.4	-	1	2207	c.1949C>G	c.(1948-1950)aCt>aGt	p.T650S	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	650					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATGCAATATAGTGTGGACAAC	0.388																																					NSCLC(179;265 2915 6144 43644)												0								ENSG00000175073						167	173	171					8																	67577245		2203	4300	6503	VCPIP1	SO:0001583	missense	0			-	HGNC	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1949C>G	8.37:g.67577245G>C	ENSP00000309031:p.Thr650Ser	Somatic	0	41	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	32	42.86	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP							pfam_OTU,pfscan_OTU	p.T650S	ENST00000310421.4	37	c.1949	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614303	0.46631	.	.	ENSG00000175073	ENST00000310421	T	0.33654	1.4	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.54323	1.7	0.80722	D	1	P	0.45902	0.868	P	0.46110	0.504	T	0.46219	-0.9207	10	0.72032	D	0.01	-12.7381	19.2059	0.93729	0.0:0.0:1.0:0.0	.	650	Q96JH7	VCIP1_HUMAN	S	650	ENSP00000309031:T650S	ENSP00000309031:T650S	T	-	2	0	VCPIP1	67739799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.587000	0.87381	0.655000	0.94253	ACT	-	NULL		0.388	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	protein_coding	OTTHUMT00000379227.1	G		-		67577245	-1	no_errors	ENST00000310421	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67577245	G	C	67577245	3	2	166	1	0	0	0	0	1	0	0	0	17148	1029	36	4	1731	4	VCPIP1	8	67577245	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		67577245	78786777	14	11748											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767606	77767606	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtgacgccaccaccggaGacgagggaaacactgaaatg	12	11	1	3			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr8:77767606G>T	ENST00000521891.2	+	10	8897	c.8449G>T	c.(8449-8451)Gac>Tac	p.D2817Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2772Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2772Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2791Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2772					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)			CACCACCGGAGACGAGGGAAA	0.468										HNSCC(33;0.089)																																							0								ENSG00000091656						51	52	51					8																	77767606		1959	4154	6113	ZFHX4	SO:0001583	missense	0			-	HGNC		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.8449G>T	8.37:g.77767606G>T	ENSP00000430497:p.Asp2817Tyr	Somatic	0	33	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D2817Y	ENST00000521891.2	37	c.8449	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480011	0.26598	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.61158	0.13;0.19;0.16;0.15	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000325	T	0.73148	0.3550	L	0.55990	1.75	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	0.75682	-0.3233	10	0.87932	D	0	.	18.4359	0.90646	0.0:0.0:1.0:0.0	.	2772;2772;2817	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2817;2801;2772;2772;2791	ENSP00000430497:D2817Y;ENSP00000399605:D2772Y;ENSP00000050961:D2772Y;ENSP00000430848:D2791Y	ENSP00000050961:D2772Y	D	+	1	0	ZFHX4	77930161	1.000000	0.71417	0.112000	0.21494	0.218000	0.24690	9.657000	0.98554	2.588000	0.87417	0.561000	0.74099	GAC	-	NULL		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	G	NM_024721	-		77767606	1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77767606	G	T	77767606	3	4	166	1	0	0	0	0	1	0	0	0	17642	942	33	3	8483	3	ZFHX4	8	77767606	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09	10190361	77767606	68596416	15	11749											
IFNE	338376	genome.wustl.edu	37	chr9	21481376	21481376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaatgaggaatttctcCgtgtggttttcctcccaacc	9	10	1	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr9:21481376C>T	ENST00000448696.3	-	1	936	c.318G>A	c.(316-318)acG>acA	p.T106T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	106					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						GGAATTTCTCCGTGTGGTTTT	0.453																																																	0								ENSG00000184995						154	147	149					9																	21481376		2203	4300	6503	IFNE	SO:0001819	synonymous_variant	0			-	HGNC	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.318G>A	9.37:g.21481376C>T		Somatic	0	30	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	16	52.94		Silent	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.T106	ENST00000448696.3	37	c.318	CCDS34997.1	9																																																																																			-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.453	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	protein_coding	OTTHUMT00000051901.2	C	NM_176891	-		21481376	-1	no_errors	ENST00000448696	ensembl	human	known	74_37	silent	SNP	0.000	T	T	21481376	C	T	21481376	2	4	166	1	0	0	0	0	0	0	0	1	7549	639	23	1		1	IFNE	9	21481376	Silent	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09		21481376	119732055	16	11750											
KIAA1045	23349	genome.wustl.edu	37	chr9	34971603	34971603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcgattcacaccccctgCgttcatccgccccacccgga	7	19	2	0			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr9:34971603C>T	ENST00000242315.3	+	2	390	c.308C>T	c.(307-309)gCg>gTg	p.A103V	KIAA1045_ENST00000544237.1_Missense_Mutation_p.A103V|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	103							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACACCCCCTGCGTTCATCCGC	0.607																																																	0								ENSG00000122733						119	131	127					9																	34971603		1964	4158	6122	KIAA1045	SO:0001583	missense	0			-	HGNC	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.308C>T	9.37:g.34971603C>T	ENSP00000242315:p.Ala103Val	Somatic	0	33	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12	B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.A103V	ENST00000242315.3	37	c.308	CCDS43796.1	9	.	.	.	.	.	.	.	.	.	.	c	32	5.178381	0.94846	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.93	5.93	0.95920	.	0.189219	0.45361	D	0.000361	T	0.76271	0.3964	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.67103	0.949	T	0.73072	-0.4098	8	.	.	.	-5.47	19.3291	0.94278	0.0:1.0:0.0:0.0	.	103	Q9UPV7	K1045_HUMAN	V	103	.	.	A	+	2	0	KIAA1045	34961603	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.342000	0.79310	2.814000	0.96858	0.655000	0.94253	GCG	-	NULL		0.607	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1045	protein_coding	OTTHUMT00000052256.2	C	XM_048592	-		34971603	1	no_errors	ENST00000242315	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34971603	C	T	34971603	3	4	166	1	0	0	0	0	1	0	0	0	8209	768	27	1	310	1	KIAA1045	9	34971603	Missense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	13490227	34971603	106241828	17	11751											
FAM75A3	727830	genome.wustl.edu	37	chr9	40705285	40705285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgtgcatggtttcgAggctccagggaccagcaaaa	14	8	0	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr9:40705285A>G	ENST00000356699.5	+	4	2971	c.2942A>G	c.(2941-2943)gAg>gGg	p.E981G	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	981					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATGGTTTCGAGGCTCCAGGG	0.517																																																	0								ENSG00000147926						1	1	1					9																	40705285		42	103	145	SPATA31A3	SO:0001583	missense	0			-	HGNC			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.2942A>G	9.37:g.40705285A>G	ENSP00000349132:p.Glu981Gly	Somatic	0	13	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73		Missense_Mutation	SNP							NULL	p.E981G	ENST00000356699.5	37	c.2942	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107787	0.20714	.	.	ENSG00000147926	ENST00000356699	T	0.04706	3.57	1.57	0.357	0.16079	.	.	.	.	.	T	0.03136	0.0092	N	0.13235	0.315	0.09310	N	1	D	0.53312	0.959	P	0.49252	0.604	T	0.21518	-1.0243	9	0.07813	T	0.8	.	3.0914	0.06295	0.6946:0.0:0.3054:0.0	.	981	Q5VYP0	F75A3_HUMAN	G	981	ENSP00000349132:E981G	ENSP00000349132:E981G	E	+	2	0	FAM75A3	40695285	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-0.294000	0.08309	0.097000	0.17492	0.156000	0.16432	GAG	-	NULL		0.517	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	protein_coding	OTTHUMT00000036919.1	A	NM_001083124	-		40705285	1	no_errors	ENST00000356699	ensembl	human	known	74_37	missense	SNP	0.000	G	G	40705285	A	G	40705285	3	3	166	1	0	0	0	0	1	0	0	0	5623	304	11	5	2956	5	FAM75A3	9	40705285	Missense_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09	5733682	40705285	100508146	18	11752											
ADK	132	genome.wustl.edu	37	chr10	76154021	76154021	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgctcattactacgagcaGaatgagcagccaacaggaac	10	10	1	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr10:76154021G>T	ENST00000286621.2	+	5	446	c.396G>T	c.(394-396)caG>caT	p.Q132H	ADK_ENST00000539909.1_Missense_Mutation_p.Q132H|ADK_ENST00000541550.1_Missense_Mutation_p.Q97H|ADK_ENST00000372734.3_Missense_Mutation_p.Q115H	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	132					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	ACTACGAGCAGAATGAGCAGC	0.433																																																	0								ENSG00000156110						92	90	91					10																	76154021		2203	4300	6503	ADK	SO:0001583	missense	0			-	HGNC	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.396G>T	10.37:g.76154021G>T	ENSP00000286621:p.Gln132His	Somatic	0	34	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP							pfam_PfkB_dom,prints_Adenokinase	p.Q132H	ENST00000286621.2	37	c.396	CCDS7343.1	10	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905807	0.52333	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.68	4.75	0.60458	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	L	0.58428	1.81	0.58432	D	0.999997	D;B;D;B	0.89917	0.999;0.126;1.0;0.127	D;B;D;B	0.97110	0.982;0.246;1.0;0.071	T	0.83148	-0.0105	10	0.32370	T	0.25	-10.9712	13.8237	0.63338	0.0762:0.0:0.9238:0.0	.	97;132;115;132	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	H	132;132;115;97	ENSP00000443965:Q132H;ENSP00000286621:Q132H;ENSP00000361819:Q115H;ENSP00000438321:Q97H	ENSP00000286621:Q132H	Q	+	3	2	ADK	75824027	1.000000	0.71417	0.999000	0.59377	0.612000	0.37316	4.479000	0.60236	1.328000	0.45358	0.563000	0.77884	CAG	-	pfam_PfkB_dom		0.433	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADK	protein_coding	OTTHUMT00000048763.1	G	NM_001123, NM_006721	-		76154021	1	no_errors	ENST00000286621	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76154021	G	T	76154021	3	4	166	1	0	0	0	0	1	0	0	0	320	933	33	3	432	3	ADK	10	76154021	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		76154021	59380726	19	11753											
OR1S2	219958	genome.wustl.edu	37	chr11	57970682	57970682	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatgtccagggcatcaaagGgaagaaatttttctattgat	10	5	2	3			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr11:57970682G>C	ENST00000302592.6	-	1	971	c.972C>G	c.(970-972)tcC>tcG	p.S324S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGCATCAAAGGGAAGAAATTT	0.413																																																	0								ENSG00000197887						127	129	129					11																	57970682		2201	4296	6497	OR1S2	SO:0001819	synonymous_variant	0			-	HGNC	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.972C>G	11.37:g.57970682G>C		Somatic	0	42	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	2	83.33	Q6IFG5|Q96R85	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S324	ENST00000302592.6	37	c.972	CCDS31545.1	11																																																																																			-	NULL		0.413	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	protein_coding	OTTHUMT00000394703.2	G	NM_001004459	-		57970682	-1	no_errors	ENST00000302592	ensembl	human	known	74_37	silent	SNP	0.023	C	C	57970682	G	C	57970682	2	2	166	1	0	0	0	0	0	0	0	1	10975	1219	43	4		4	OR1S2	11	57970682	Silent	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		57970682	77035834	20	11754											
CCDC91	55297	genome.wustl.edu	37	chr12	28459799	28459799	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagccaatgtatctaAcatacagcttcagcaaaaaa	6	10	2	0			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr12:28459799A>T	ENST00000545336.1	+	8	811	c.392A>T	c.(391-393)aAc>aTc	p.N131I	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.N131I|CCDC91_ENST00000539107.1_Missense_Mutation_p.N131I|CCDC91_ENST00000306172.5_Missense_Mutation_p.N101I|CCDC91_ENST00000381256.1_Missense_Mutation_p.N131I			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	131					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATGTATCTAACATACAGCTT	0.348																																																	0								ENSG00000123106						79	83	82					12																	28459799		2203	4300	6503	CCDC91	SO:0001583	missense	0			-	HGNC	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.392A>T	12.37:g.28459799A>T	ENSP00000438040:p.Asn131Ile	Somatic	0	35	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP							NULL	p.N131I	ENST00000545336.1	37	c.392	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368607	0.61624	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.40476	1.03;1.37;1.37;1.37;1.37;1.03;1.36	5.52	4.36	0.52297	.	0.303905	0.28589	N	0.014820	T	0.42698	0.1214	N	0.24115	0.695	0.29969	N	0.818711	D;P	0.58268	0.982;0.739	P;B	0.57911	0.829;0.221	T	0.41288	-0.9517	10	0.62326	D	0.03	-7.3256	9.6662	0.39986	0.8249:0.1751:0.0:0.0	.	131;101	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	I	131;131;131;131;131;131;101	ENSP00000440513:N131I;ENSP00000445660:N131I;ENSP00000438040:N131I;ENSP00000442544:N131I;ENSP00000370658:N131I;ENSP00000370655:N131I;ENSP00000305075:N101I	ENSP00000305075:N101I	N	+	2	0	CCDC91	28351066	0.995000	0.38212	0.976000	0.42696	0.914000	0.54420	2.430000	0.44766	0.899000	0.36444	0.528000	0.53228	AAC	-	NULL		0.348	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	protein_coding	OTTHUMT00000402447.1	A	NM_018318	-		28459799	1	no_errors	ENST00000381259	ensembl	human	known	74_37	missense	SNP	0.934	T	T	28459799	A	T	28459799	3	4	166	1	0	0	0	0	1	0	0	0	2872	43	2	5	406	5	CCDC91	12	28459799	Missense_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09		28459799	105392096	21	11755											
ATP2B1	490	genome.wustl.edu	37	chr12	89997635	89997635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtggttccgttgccagaGccagggaagcgagtgtatcc	16	9	0	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr12:89997635G>T	ENST00000428670.3	-	17	3158	c.2702C>A	c.(2701-2703)gCt>gAt	p.A901D	ATP2B1_ENST00000393164.2_Missense_Mutation_p.A644D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A901D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.A901D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A901D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	901					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CGTTGCCAGAGCCAGGGAAGC	0.448																																																	0								ENSG00000070961						99	87	91					12																	89997635		2203	4300	6503	ATP2B1	SO:0001583	missense	0			-	HGNC	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2702C>A	12.37:g.89997635G>T	ENSP00000392043:p.Ala901Asp	Somatic	0	66	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.A901D	ENST00000428670.3	37	c.2702	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.327511	0.95733	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.997	D	0.98429	1.0581	10	0.87932	D	0	-13.2784	20.3242	0.98691	0.0:0.0:1.0:0.0	.	901;901;901	P20020-3;P20020-2;P20020-6	.;.;.	D	901;901;901;901;644	ENSP00000261173:A901D;ENSP00000343599:A901D;ENSP00000352054:A901D;ENSP00000392043:A901D;ENSP00000376869:A644D	ENSP00000261173:A901D	A	-	2	0	ATP2B1	88521766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	GCT	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.448	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	protein_coding	OTTHUMT00000406653.1	G	NM_001682	-		89997635	-1	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89997635	G	T	89997635	3	4	166	1	0	0	0	0	1	0	0	0	1139	971	34	3	1138	3	ATP2B1	12	89997635	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09	61537836	89997635	43854260	22	11756											
NOS1	4842	genome.wustl.edu	37	chr12	117768721	117768721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggccactctgctctgCggcgcccccacgaatcaggt	12	15	3	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr12:117768721C>T	ENST00000338101.4	-	1	158	c.154G>A	c.(154-156)Gca>Aca	p.A52T	NOS1_ENST00000317775.6_Missense_Mutation_p.A52T|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.A52T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Essential for its translational repressor activity. {ECO:0000250}.				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)			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)		CTCTGCTCTGCGGCGCCCCCA	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						39	42	41					12																	117768721		1947	4142	6089	NOS1	SO:0001583	missense	0			-	HGNC		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.154G>A	12.37:g.117768721C>T	ENSP00000337459:p.Ala52Thr	Somatic	0	65	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	11	54.17		Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A52T	ENST00000338101.4	37	c.154	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835301	0.71373	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.44482	0.92;0.92;0.92	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82182	-0.0584	10	0.87932	D	0	-29.5159	18.3171	0.90225	0.0:1.0:0.0:0.0	.	52	P29475	NOS1_HUMAN	T	52	ENSP00000320758:A52T;ENSP00000339862:A52T;ENSP00000337459:A52T	ENSP00000320758:A52T	A	-	1	0	NOS1	116253104	1.000000	0.71417	0.112000	0.21494	0.003000	0.03518	7.320000	0.79064	2.554000	0.86153	0.561000	0.74099	GCA	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	C		-		117768721	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	0.998	T	T	117768721	C	T	117768721	3	4	166	1	0	0	0	0	1	0	0	0	10543	768	27	1	4262	1	NOS1	12	117768721	Missense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	27771086	117768721	16083174	23	11757											
SNX6	58533	genome.wustl.edu	37	chr14	35037108	35037108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatttctgacaacataattGttgggaagtttcggcctgta	9	6	1	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr14:35037108G>T	ENST00000362031.4	-	12	1099	c.1069C>A	c.(1069-1071)Caa>Aaa	p.Q357K	SNX6_ENST00000396534.3_Missense_Mutation_p.Q229K|SNX6_ENST00000396526.3_Missense_Mutation_p.Q229K|SNX6_ENST00000355110.5_Missense_Mutation_p.Q233K	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	345					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAACATAATTGTTGGGAAGTT	0.333																																																	0								ENSG00000129515						77	79	79					14																	35037108		2201	4300	6501	SNX6	SO:0001583	missense	0			-	HGNC	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1069C>A	14.37:g.35037108G>T	ENSP00000355217:p.Gln357Lys	Somatic	0	59	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	C0H5W9|Q9Y449	Missense_Mutation	SNP							pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.Q357K	ENST00000362031.4	37	c.1069	CCDS41942.1	14	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977956	0.53720	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.96	4.96	0.65561	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	L	0.33339	1.005	0.80722	D	1	P;P	0.44776	0.843;0.843	D;P	0.64506	0.926;0.893	T	0.60551	-0.7241	10	0.27082	T	0.32	-16.7495	19.1801	0.93620	0.0:0.0:1.0:0.0	.	233;345	B4DJS7;Q9UNH7	.;SNX6_HUMAN	K	229;229;357;233	ENSP00000379779:Q229K;ENSP00000379785:Q229K;ENSP00000355217:Q357K;ENSP00000347230:Q233K	ENSP00000347230:Q233K	Q	-	1	0	SNX6	34106859	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.542000	0.98086	2.714000	0.92807	0.552000	0.68991	CAA	-	pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6		0.333	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	protein_coding	OTTHUMT00000276642.3	G		-		35037108	-1	no_errors	ENST00000362031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35037108	G	T	35037108	3	4	166	1	0	0	0	0	1	0	0	0	14914	1386	48	3	199	3	SNX6	14	35037108	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		35037108	72312432	24	11758											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890948	23890948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcggggctccctgaaaggGctgctccagctggaccaagg	17	12	0	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr15:23890948G>T	ENST00000532292.1	-	1	227	c.133C>A	c.(133-135)Ccc>Acc	p.P45T		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					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)		CCCTGAAAGGGCTGCTCCAGC	0.701																																																	0								ENSG00000254585						5	6	5					15																	23890948		1735	3811	5546	MAGEL2	SO:0001583	missense	0			-	HGNC	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.133C>A	15.37:g.23890948G>T	ENSP00000433433:p.Pro45Thr	Somatic	0	34	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	7	68.18		Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.P45T	ENST00000532292.1	37	c.133		15	.	.	.	.	.	.	.	.	.	.	g	12.22	1.871707	0.33069	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.43	3.43	0.39272	.	.	.	.	.	T	0.41673	0.1169	L	0.47716	1.5	0.28725	N	0.902808	.	.	.	.	.	.	T	0.27331	-1.0077	5	.	.	.	.	8.9717	0.35910	0.0:0.2279:0.7721:0.0	.	.	.	.	R	76	.	.	S	-	3	2	MAGEL2	21442041	0.998000	0.40836	1.000000	0.80357	0.222000	0.24845	2.985000	0.49362	2.196000	0.70406	0.197000	0.17608	AGC	-	NULL		0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	protein_coding	OTTHUMT00000395182.2	G	NM_019066	-		23890948	-1	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23890948	G	T	23890948	3	4	166	1	0	0	0	0	1	0	0	0	9191	1203	42	3	1811	3	MAGEL2	15	23890948	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		23890948	78640444	25	11759											
CD276	80381	genome.wustl.edu	37	chr15	73994860	73994860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagcgcgtgcgtgtggCggacgagggcagcttcacct	17	12	1	0	rs537842985	byFrequency	TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr15:73994860C>T	ENST00000318443.5	+	3	646	c.344C>T	c.(343-345)gCg>gTg	p.A115V	CD276_ENST00000318424.5_Missense_Mutation_p.A115V|CD276_ENST00000564751.1_Missense_Mutation_p.A115V|CD276_ENST00000561213.1_Missense_Mutation_p.A115V|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	115	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GTGCGTGTGGCGGACGAGGGC	0.697													C|||	2	0.000399361	0	0	5008	,	,		18352	0.002		0	False		,,,				2504	0																0								ENSG00000103855						43	38	39					15																	73994860		2198	4295	6493	CD276	SO:0001583	missense	0			-	HGNC	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.344C>T	15.37:g.73994860C>T	ENSP00000320084:p.Ala115Val	Somatic	0	95	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	41	38.81	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A115V	ENST00000318443.5	37	c.344	CCDS32288.1	15	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640230	0.29157	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823	T;T	0.02837	4.14;4.14	2.79	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03520	0.0101	L	0.49455	1.56	0.34625	D	0.71896	B;B;B;B	0.28178	0.105;0.189;0.202;0.168	B;B;B;B	0.24701	0.014;0.046;0.055;0.032	T	0.18304	-1.0341	9	0.44086	T	0.13	-14.8162	8.486	0.33071	0.0:0.8833:0.0:0.1167	.	61;115;115;115	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	V	115	ENSP00000320058:A115V;ENSP00000320084:A115V	ENSP00000320058:A115V	A	+	2	0	CD276	71781913	0.993000	0.37304	0.907000	0.35723	0.716000	0.41182	3.294000	0.51787	1.866000	0.54105	0.313000	0.20887	GCG	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.697	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD276	protein_coding	OTTHUMT00000268979.1	C	NM_025240	-		73994860	1	no_errors	ENST00000318443	ensembl	human	known	74_37	missense	SNP	0.959	T	T	73994860	C	T	73994860	3	4	166	1	0	0	0	0	1	0	0	0	2994	768	27	1	350	1	CD276	15	73994860	Missense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	50103912	73994860	28536532	26	11760											
PRSS53	339105	genome.wustl.edu	37	chr16	31097417	31097417	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacaggagcgtcctcctGggcacagcttgatgcaaagc	12	13	0	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr16:31097417G>A	ENST00000280606.6	-	6	904	c.751C>T	c.(751-753)Cag>Tag	p.Q251*		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	251	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						GCGTCCTCCTGGGCACAGCTT	0.632																																																	0								ENSG00000151006						72	76	75					16																	31097417		2085	4225	6310	PRSS53	SO:0001587	stop_gained	0			-	HGNC		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.751C>T	16.37:g.31097417G>A	ENSP00000280606:p.Gln251*	Somatic	0	56	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00		Nonsense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q251*	ENST00000280606.6	37	c.751	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804263	0.90623	.	.	ENSG00000151006	ENST00000280606	.	.	.	5.63	5.63	0.86233	.	0.230236	0.21661	U	0.071014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	10.5908	0.45308	0.0869:0.0:0.9131:0.0	.	.	.	.	X	251	.	ENSP00000280606:Q251X	Q	-	1	0	PRSS53	31004918	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.344000	0.44010	2.654000	0.90174	0.561000	0.74099	CAG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.632	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	protein_coding	OTTHUMT00000108580.4	G	NM_001081268	-		31097417	-1	no_errors	ENST00000280606	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	31097417	G	A	31097417	4	1	166	1	0	0	0	0	0	1	0	0	12637	1357	47	2	934	2	PRSS53	16	31097417	Nonsense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		31097417	59257336	27	11761											
CBLN1	869	genome.wustl.edu	37	chr16	49314890	49314891	+	Frame_Shift_Ins	INS	-	-	T													aagttaaaactgtagatcccINStttgcgcggggcgatgaaag							TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr16:49314890_49314891insT	ENST00000219197.6	-	2	692_693	c.327_328insA	c.(325-330)aaagggfs	p.G110fs	CBLN1_ENST00000536749.1_Frame_Shift_Ins_p.G110fs	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	110	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CTGTAGATCCCTTTGCGCGGGG	0.535																																																	0								ENSG00000102924																																			CBLN1	SO:0001589	frameshift_variant	0				HGNC	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.328dupA	16.37:g.49314893_49314893dupT	ENSP00000219197:p.Gly110fs	Somatic	0	61	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B2RAN9|P02682|Q52M09	Frame_Shift_Ins	INS							pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G109fs	ENST00000219197.6	37	c.328_327	CCDS10736.1	16																																																																																			-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q		0.535	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	protein_coding	OTTHUMT00000256845.4	-	NM_004352			49314891	-1	no_errors	ENST00000219197	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	49314891	-	T	49314890	7	5	166	1	0	1	1	0	0	0	0	0	2706	681	24	0	261	0	CBLN1	16	49314890	Frame_Shift_Ins	INS	-	TCGA-JV-A5VF-01A-11D-A29N-09	18217473	49314890	41039863	28	11762											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	ENSG00000141510						151	112	125					17																	7577539		2203	4300	6503	TP53	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;	-	HGNC	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	Somatic	0	68	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	5	92.75	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	rs121912651		7577539	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7577539	G	A	7577539	3	1	166	1	0	0	0	0	1	0	0	0	16388	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		7577539	73617671	29	11763											
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13400122	13400122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcccgtccagggttcTgggcatcaggtccctgagaa	13	12	3	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr17:13400122T>C	ENST00000284110.1	-	2	1410	c.613A>G	c.(613-615)Aga>Gga	p.R205G	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R3G	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	205					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCAGGGTTCTGGGCATCAGG	0.602																																																	0								ENSG00000153976						45	47	46					17																	13400122		2203	4300	6503	HS3ST3A1	SO:0001583	missense	0			-	HGNC	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.613A>G	17.37:g.13400122T>C	ENSP00000284110:p.Arg205Gly	Somatic	0	46	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	3	90.62	A8K7N2	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R205G	ENST00000284110.1	37	c.613	CCDS11165.1	17	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248301	0.39697	.	.	ENSG00000153976	ENST00000284110	D	0.82526	-1.62	5.32	1.51	0.23008	Sulfotransferase domain (1);	0.060313	0.64402	U	0.000004	T	0.76751	0.4031	L	0.48174	1.505	0.39706	D	0.971257	B	0.23249	0.082	B	0.27887	0.084	T	0.70174	-0.4944	10	0.30078	T	0.28	.	12.7557	0.57335	0.0:0.0:0.3887:0.6113	.	205	Q9Y663	HS3SA_HUMAN	G	205	ENSP00000284110:R205G	ENSP00000284110:R205G	R	-	1	2	HS3ST3A1	13340847	0.981000	0.34729	0.920000	0.36463	0.987000	0.75469	2.096000	0.41738	0.487000	0.27698	0.460000	0.39030	AGA	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.602	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	protein_coding	OTTHUMT00000129952.1	T	NM_006042	-		13400122	-1	no_errors	ENST00000284110	ensembl	human	known	74_37	missense	SNP	0.799	C	C	13400122	T	C	13400122	3	2	166	1	0	0	0	0	1	0	0	0	7367	1588	55	5	611	5	HS3ST3A1	17	13400122	Missense_Mutation	SNP	T	TCGA-JV-A5VF-01A-11D-A29N-09	5822583	13400122	67795088	30	11764											
ZNF175	7728	genome.wustl.edu	37	chr19	52090454	52090454	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtggggggagcttcacccaGaagtcacacctctttgccca	11	13	3	1			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr19:52090454G>T	ENST00000262259.2	+	5	1228	c.870G>T	c.(868-870)caG>caT	p.Q290H	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	290					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GCTTCACCCAGAAGTCACACC	0.438																																																	0								ENSG00000105497						101	104	103					19																	52090454		2203	4299	6502	ZNF175	SO:0001583	missense	0			-	HGNC	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.870G>T	19.37:g.52090454G>T	ENSP00000262259:p.Gln290His	Somatic	0	32	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	9	66.67	A8K9H2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q290H	ENST00000262259.2	37	c.870	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.830557	0.00584	.	.	ENSG00000105497	ENST00000262259	T	0.60797	0.16	2.43	-2.5	0.06384	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45577	0.1349	L	0.53729	1.69	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.31475	-0.9942	9	0.39692	T	0.17	.	5.3186	0.15870	0.4222:0.1486:0.4292:0.0	.	290	Q9Y473	ZN175_HUMAN	H	290	ENSP00000262259:Q290H	ENSP00000262259:Q290H	Q	+	3	2	ZNF175	56782266	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.929000	0.00332	-0.880000	0.03997	-1.731000	0.00696	CAG	-	pfscan_Znf_C2H2		0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	protein_coding	OTTHUMT00000396205.1	G	NM_007147	-		52090454	1	no_errors	ENST00000262259	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52090454	G	T	52090454	3	4	166	1	0	0	0	0	1	0	0	0	17752	933	33	3	884	3	ZNF175	19	52090454	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09		52090454	7038529	31	11765											
VPS16	64601	genome.wustl.edu	37	chr20	2845867	2845867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggggggccagttcctagAcctgtctctacatgacacag	12	12	1	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr20:2845867A>G	ENST00000380445.3	+	21	2150	c.2078A>G	c.(2077-2079)gAc>gGc	p.D693G	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.D379G|VPS16_ENST00000380469.3_Missense_Mutation_p.D549G	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	693					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAGTTCCTAGACCTGTCTCTA	0.577																																																	0								ENSG00000215305						81	76	78					20																	2845867		2203	4300	6503	VPS16	SO:0001583	missense	0			-	HGNC	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2078A>G	20.37:g.2845867A>G	ENSP00000369810:p.Asp693Gly	Somatic	0	31	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	14	58.82	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP							pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.D693G	ENST00000380445.3	37	c.2078	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	A	2.049	-0.418175	0.04766	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.46063	0.88;0.88;0.88	4.89	4.89	0.63831	Vps16, C-terminal (1);	0.148562	0.64402	D	0.000010	T	0.14227	0.0344	N	0.01122	-1.005	0.80722	D	1	B;B;B;B	0.15930	0.001;0.015;0.005;0.005	B;B;B;B	0.12837	0.003;0.008;0.008;0.005	T	0.19386	-1.0307	10	0.05959	T	0.93	-16.7413	12.7566	0.57339	1.0:0.0:0.0:0.0	.	169;379;549;693	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	G	693;549;379	ENSP00000369810:D693G;ENSP00000369836:D549G;ENSP00000369808:D379G	ENSP00000369808:D379G	D	+	2	0	VPS16	2793867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.301000	0.65727	1.967000	0.57214	0.533000	0.62120	GAC	-	pfam_Vps16_C,pirsf_VPS16		0.577	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	protein_coding	OTTHUMT00000077658.2	A	NM_022575	-		2845867	1	no_errors	ENST00000380445	ensembl	human	known	74_37	missense	SNP	1.000	G	G	2845867	A	G	2845867	3	3	166	1	0	0	0	0	1	0	0	0	17200	275	10	5	2160	5	VPS16	20	2845867	Missense_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09		2845867	60179653	32	11766											
ZNF337	26152	genome.wustl.edu	37	chr20	25657393	25657393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacacttgaatgctccCcatcttgaattttctattcc	4	13	3	2			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr20:25657393C>T	ENST00000376436.1	-	4	1070	c.531G>A	c.(529-531)tgG>tgA	p.W177*	ZNF337_ENST00000538750.1_Nonsense_Mutation_p.W145*|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonsense_Mutation_p.W177*|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	177					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAATGCTCCCCATCTTGAAT	0.423																																																	0								ENSG00000130684						169	162	164					20																	25657393		2203	4300	6503	ZNF337	SO:0001587	stop_gained	0			-	HGNC		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.531G>A	20.37:g.25657393C>T	ENSP00000365619:p.Trp177*	Somatic	0	82	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	47	46.59	B4DSM2|Q9Y3Y5	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W177*	ENST00000376436.1	37	c.531	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	23.5	4.419065	0.83559	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	.	.	.	1.45	0.277	0.15668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.2241	0.20698	0.2984:0.7016:0.0:0.0	.	.	.	.	X	177;177;177;145	.	ENSP00000252979:W177X	W	-	3	0	ZNF337	25605393	0.191000	0.23288	0.004000	0.12327	0.870000	0.49936	1.773000	0.38563	-0.093000	0.12396	0.306000	0.20318	TGG	-	NULL		0.423	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	protein_coding	OTTHUMT00000078454.1	C		-		25657393	-1	no_errors	ENST00000252979	ensembl	human	known	74_37	nonsense	SNP	0.666	T	T	25657393	C	T	25657393	4	4	166	1	0	0	0	0	0	1	0	0	17860	624	22	2	1728	2	ZNF337	20	25657393	Nonsense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	22811526	25657393	37368127	33	11767											
HCK	3055	genome.wustl.edu	37	chr20	30681783	30681783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgactttggcctggccCgggtcattgaggacaacgag	14	10	1	2	rs145632103		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chr20:30681783C>T	ENST00000520553.1	+	11	1393	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	HCK_ENST00000534862.1_Missense_Mutation_p.R384W|HCK_ENST00000538448.1_Missense_Mutation_p.R383W|HCK_ENST00000375852.2_Missense_Mutation_p.R404W|HCK_ENST00000375862.2_Missense_Mutation_p.R403W|HCK_ENST00000518730.1_Missense_Mutation_p.R382W	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TGGCCTGGCCCGGGTCATTGA	0.557																																																	0								ENSG00000101336	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	176	138	151		1147,1207,1144,1150,1147,1210	2.8	0.3	20	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	383/506,403/526,382/505,384/507,383/506,404/527	30681783	1,13005	2203	4300	6503	HCK	SO:0001583	missense	0			-	HGNC	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1147C>T	20.37:g.30681783C>T	ENSP00000429848:p.Arg383Trp	Somatic	0	56	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	24	54.72	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.R404W	ENST00000520553.1	37	c.1210	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687811	0.68271	0.0	1.16E-4	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	4.87	2.8	0.32819	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	0.94788	0.8317	H	0.98089	4.145	0.47245	D	0.999366	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95866	0.8887	10	0.87932	D	0	.	12.8574	0.57892	0.399:0.601:0.0:0.0	.	382;404	P08631-3;P08631	.;HCK_HUMAN	W	384;383;403;383;382;404	ENSP00000444986:R384W;ENSP00000441169:R383W;ENSP00000365022:R403W;ENSP00000429848:R383W;ENSP00000427757:R382W;ENSP00000365012:R404W	ENSP00000365012:R404W	R	+	1	2	HCK	30145444	0.891000	0.30450	0.323000	0.25347	0.857000	0.48899	1.850000	0.39328	1.245000	0.43885	0.542000	0.68232	CGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.557	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	protein_coding	OTTHUMT00000375751.1	C		rs145632103		30681783	1	no_errors	ENST00000375852	ensembl	human	known	74_37	missense	SNP	0.714	T	T	30681783	C	T	30681783	3	4	166	1	0	0	0	0	1	0	0	0	6996	643	23	1	1258	1	HCK	20	30681783	Missense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	5024390	30681783	32343737	34	11768											
SHROOM2	357	genome.wustl.edu	37	chrX	9905320	9905320	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccccacgggctggagaaagAccagatcaagacgctgagca	13	12	1	5			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chrX:9905320A>T	ENST00000380913.3	+	7	3824	c.3734A>T	c.(3733-3735)gAc>gTc	p.D1245V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.D80V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1245			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)				CTGGAGAAAGACCAGATCAAG	0.647																																																	0								ENSG00000146950						47	40	42					X																	9905320		2198	4299	6497	SHROOM2	SO:0001583	missense	0			-	HGNC	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.3734A>T	X.37:g.9905320A>T	ENSP00000370299:p.Asp1245Val	Somatic	0	96	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	42	38.24	B9EIQ7	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1245V	ENST00000380913.3	37	c.3734	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727425	0.69074	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.46451	2.37;1.46;0.87	4.98	4.98	0.66077	.	0.183785	0.47455	D	0.000239	T	0.60431	0.2268	L	0.58101	1.795	0.58432	D	0.999999	P;D	0.89917	0.941;1.0	B;D	0.85130	0.35;0.997	T	0.63883	-0.6536	10	0.72032	D	0.01	-38.6128	13.8783	0.63667	1.0:0.0:0.0:0.0	.	80;1245	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1245;80;80;80	ENSP00000370299:D1245V;ENSP00000415229:D80V;ENSP00000406724:D80V	ENSP00000370299:D1245V	D	+	2	0	SHROOM2	9865320	1.000000	0.71417	0.981000	0.43875	0.943000	0.58893	2.479000	0.45197	1.652000	0.50683	0.481000	0.45027	GAC	-	NULL		0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	A	NM_001649	-		9905320	1	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	SNP	0.991	T	T	9905320	A	T	9905320	3	4	166	1	0	0	0	0	1	0	0	0	14302	275	10	5	3760	5	SHROOM2	23	9905320	Missense_Mutation	SNP	A	TCGA-JV-A5VF-01A-11D-A29N-09		9905320	145365240	35	11769											
MED12	9968	genome.wustl.edu	37	chrX	70339254	70339254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgaatgtaaaacaagGtttcaataaccagcctgctg	9	9	1	1	rs199469676|rs199469692|rs199469688|rs199469689|rs199469672|rs199469677|rs199469678|rs199469680|rs199469681|rs199469691|rs199469690|rs199469684|rs199469685|rs199469686|rs199469687		TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chrX:70339254G>A	ENST00000374080.3	+	2	163	c.131G>A	c.(130-132)gGt>gAt	p.G44D	MED12_ENST00000333646.6_Missense_Mutation_p.G44D|MED12_ENST00000374102.1_Missense_Mutation_p.G44D			Q93074	MED12_HUMAN	mediator complex subunit 12	44					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)	p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		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)					GTAAAACAAGGTTTCAATAAC	0.527			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	180	Substitution - Missense(150)|Deletion - In frame(21)|Unknown(5)|Complex - deletion inframe(4)	soft_tissue(177)|breast(2)|endometrium(1)						ENSG00000184634						40	35	37					X																	70339254		1900	4109	6009	MED12	SO:0001583	missense	0			-	HGNC	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.131G>A	X.37:g.70339254G>A	ENSP00000363193:p.Gly44Asp	Somatic	0	43	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	8	75.76	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP							pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.G44D	ENST00000374080.3	37	c.131	CCDS43970.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.7|24.7	4.560065|4.560065	0.86335|0.86335	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072|ENST00000429213	D;D;D;D|.	0.87412|.	-2.25;-2.21;-2.22;-1.86|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73040|0.73040	0.3536|0.3536	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.73594|0.73594	-0.3933|-0.3933	10|5	0.87932|.	D|.	0|.	-13.5074|-13.5074	16.9324|16.9324	0.86193|0.86193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;44;44|.	F5H3Y1;Q93074-3;Q93074|.	.;.;MED12_HUMAN|.	D|I	44;44;44;44;12|29	ENSP00000333125:G44D;ENSP00000363215:G44D;ENSP00000363193:G44D;ENSP00000414203:G12D|.	ENSP00000333125:G44D|.	G|V	+|+	2|1	0|0	MED12|MED12	70255979|70255979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.325000|9.325000	0.96381|0.96381	2.385000|2.385000	0.81259|0.81259	0.513000|0.513000	0.50165|0.50165	GGT|GTT	-	NULL		0.527	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	G	NM_005120	rs199469672		70339254	1	no_errors	ENST00000333646	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70339254	G	A	70339254	3	1	166	1	0	0	0	0	1	0	0	0	9430	1261	44	2	137	2	MED12	23	70339254	Missense_Mutation	SNP	G	TCGA-JV-A5VF-01A-11D-A29N-09	60433934	70339254	84931306	36	11770											
COL4A6	1288	genome.wustl.edu	37	chrX	107422569	107422569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccagtggctcccttggaaCcaggtaagcctggactgcca	11	14	0	0			TCGA-JV-A5VF-01A-11D-A29N-09	TCGA-JV-A5VF-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b19eac77-0659-4b1a-ac98-c04fa531d8a9	e6329e87-a8a3-480f-b4f1-223b9c39fa43	g.chrX:107422569C>G	ENST00000372216.4	-	26	2334	c.2234G>C	c.(2233-2235)gGt>gCt	p.G745A	COL4A6_ENST00000394872.2_Missense_Mutation_p.G745A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G744A|COL4A6_ENST00000334504.7_Missense_Mutation_p.G744A|COL4A6_ENST00000545689.1_Missense_Mutation_p.G744A	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	745	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCCTTGGAACCAGGTAAGCC	0.552									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0								ENSG00000197565						79	63	68					X																	107422569		2203	4300	6503	COL4A6	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2234G>C	X.37:g.107422569C>G	ENSP00000361290:p.Gly745Ala	Somatic	0	68	0		0.744756642155213				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G745A	ENST00000372216.4	37	c.2234	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697064	0.48202	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27	4.59	4.59	0.56863	.	0.000000	0.42053	D	0.000763	D	0.99701	0.9886	M	0.92555	3.32	0.47547	D	0.999453	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97436	1.0018	10	0.59425	D	0.04	.	17.3695	0.87372	0.0:1.0:0.0:0.0	.	744;744;745;744	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	A	745;744;745;744;744;744	ENSP00000361290:G745A;ENSP00000334733:G744A;ENSP00000378340:G745A;ENSP00000443707:G744A;ENSP00000445236:G744A	ENSP00000334733:G744A	G	-	2	0	COL4A6	107309225	0.999000	0.42202	0.992000	0.48379	0.655000	0.38815	4.898000	0.63238	2.223000	0.72356	0.523000	0.50628	GGT	-	pfam_Collagen		0.552	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	protein_coding	OTTHUMT00000057875.2	C		-		107422569	-1	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	SNP	1.000	G	G	107422569	C	G	107422569	3	3	166	1	0	0	0	0	1	0	0	0	3697	507	18	4	2921	4	COL4A6	23	107422569	Missense_Mutation	SNP	C	TCGA-JV-A5VF-01A-11D-A29N-09	37083315	107422569	47847991	37	11771											
CASZ1	54897	genome.wustl.edu	37	chr1	10725140	10725140	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaaggccaggcacccacCtgaagcctgcctggtgctgg	13	14	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:10725140C>A	ENST00000377022.3	-	5	822	c.505G>T	c.(505-507)Gga>Tga	p.G169*	CASZ1_ENST00000344008.5_Splice_Site_p.G169*|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	169					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)		AGGCACCCACCTGAAGCCTGC	0.677																																																	0								ENSG00000130940						27	25	26					1																	10725140		2203	4299	6502	CASZ1	SO:0001630	splice_region_variant	0			-	HGNC	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.505+1G>T	1.37:g.10725140C>A		Somatic	0	29	0		0.528406935447922	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Nonsense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G169*	ENST00000377022.3	37	c.505	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.636306	0.96693	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	3.9	3.9	0.45041	.	0.063982	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6697	9.7154	0.40272	0.0:0.8965:0.0:0.1035	.	.	.	.	X	169	.	.	G	-	1	0	CASZ1	10647727	1.000000	0.71417	0.999000	0.59377	0.473000	0.32948	2.457000	0.45005	2.191000	0.70037	0.511000	0.50034	GGA	-	NULL		0.677	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	C	NM_017766	-	Nonsense_Mutation	10725140	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	10725140	C	A	10725140	5	1	167	1	0	0	0	0	0	0	1	0	2687	695	24	3	4846	3	CASZ1	1	10725140	Splice_Site	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		10725140	238525481	1	11772											
IL28RA	163702	genome.wustl.edu	37	chr1	24484288	24484288	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggcctgacccctctggTcagttccttttggggacaga	12	13	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:24484288T>A	ENST00000327535.1	-	7	907	c.895A>T	c.(895-897)Acc>Tcc	p.T299S	IFNLR1_ENST00000374421.3_Missense_Mutation_p.T270S|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	299					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											ACCCCTCTGGTCAGTTCCTTT	0.562																																																	0								ENSG00000185436						112	118	116					1																	24484288		2203	4300	6503	IFNLR1	SO:0001583	missense	0			-	HGNC	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.895A>T	1.37:g.24484288T>A	ENSP00000327824:p.Thr299Ser	Somatic	0	55	0		0.528406935447922	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.T299S	ENST00000327535.1	37	c.895	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	T	6.881	0.531998	0.13127	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.38	-1.86	0.07760	.	0.946429	0.08947	N	0.870671	T	0.30479	0.0766	L	0.59436	1.845	0.09310	N	0.999995	B;B	0.26195	0.144;0.094	B;B	0.23275	0.036;0.045	T	0.30592	-0.9973	9	0.12430	T	0.62	-2.0418	4.6022	0.12359	0.0:0.2575:0.3013:0.4412	.	299;270	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	S	299;270	.	ENSP00000327824:T299S	T	-	1	0	IL28RA	24356875	0.000000	0.05858	0.010000	0.14722	0.090000	0.18270	-0.161000	0.10026	-0.150000	0.11195	-0.242000	0.12053	ACC	-	NULL		0.562	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNLR1	protein_coding	OTTHUMT00000008402.1	T	NM_170743	-		24484288	-1	no_errors	ENST00000327535	ensembl	human	known	74_37	missense	SNP	0.104	A	A	24484288	T	A	24484288	3	1	167	1	0	0	0	0	1	0	0	0	7686	1667	58	5	671	5	IL28RA	1	24484288	Missense_Mutation	SNP	T	TCGA-JV-A75J-01A-11D-A32I-09	13759148	24484288	224766333	2	11773											
CCDC30	728621	genome.wustl.edu	37	chr1	43047166	43047166	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctaaagtaaagcaacaatatCaagaagaacaacagaagagg	8	6	1	4			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:43047166C>A	ENST00000340612.4	+	7	1201	c.1201C>A	c.(1201-1203)Caa>Aaa	p.Q401K	CCDC30_ENST00000342022.4_Missense_Mutation_p.Q401K|CCDC30_ENST00000390640.4_Missense_Mutation_p.Q190K|CCDC30_ENST00000428554.2_Missense_Mutation_p.Q401K|CCDC30_ENST00000507855.1_Missense_Mutation_p.Q190K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	401						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCAACAATATCAAGAAGAACA	0.368																																																	0								ENSG00000186409						93	88	90					1																	43047166		2203	4300	6503	CCDC30	SO:0001583	missense	0			-	HGNC	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1201C>A	1.37:g.43047166C>A	ENSP00000340378:p.Gln401Lys	Somatic	0	39	0		0.528406935447922	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q14F06|Q5VVM5	Missense_Mutation	SNP							NULL	p.Q401K	ENST00000340612.4	37	c.1201	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939213	0.52972	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.51817	0.69;0.71;0.69;0.69;0.71	5.25	1.07	0.20283	.	0.235442	0.44285	D	0.000466	T	0.52565	0.1742	M	0.68952	2.095	0.31290	N	0.689521	P;P;P	0.51537	0.869;0.562;0.946	P;B;P	0.48840	0.475;0.275;0.592	T	0.61893	-0.6969	10	0.32370	T	0.25	.	16.2484	0.82467	0.0:0.4804:0.5196:0.0	.	401;185;190	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	K	401;190;401;401;190	ENSP00000397035:Q401K;ENSP00000426711:Q190K;ENSP00000340378:Q401K;ENSP00000339280:Q401K;ENSP00000375051:Q190K	ENSP00000340378:Q401K	Q	+	1	0	CCDC30	42819753	0.421000	0.25465	0.971000	0.41717	0.972000	0.66771	0.319000	0.19522	0.009000	0.14813	0.650000	0.86243	CAA	-	NULL		0.368	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	protein_coding	OTTHUMT00000019524.3	C	NM_025030	-		43047166	1	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	SNP	0.969	A	A	43047166	C	A	43047166	3	1	167	1	0	0	0	0	1	0	0	0	2807	827	29	3	1227	3	CCDC30	1	43047166	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	18562878	43047166	206203455	3	11774											
CDC20	991	genome.wustl.edu	37	chr1	43825929	43825929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggacaacagtgtgtacCtgtggagtgcaagctctggt	13	9	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:43825929C>A	ENST00000372462.1	+	5	825	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.L208M|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	208					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.L208M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGTGTGTACCTGTGGAGTGC	0.512																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000117399						149	141	144					1																	43825929		2203	4300	6503	CDC20	SO:0001583	missense	0			-	HGNC	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.622C>A	1.37:g.43825929C>A	ENSP00000361540:p.Leu208Met	Somatic	0	36	0		0.528406935447922	434	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L208M	ENST00000372462.1	37	c.622	CCDS484.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293394	0.60086	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.35789	1.29;1.29	5.85	-0.684	0.11331	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	0.57975	0.2090	M	0.84948	2.725	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	T	0.62291	-0.6885	10	0.66056	D	0.02	-13.0355	10.8764	0.46913	0.0:0.6233:0.0:0.3767	.	208	Q12834	CDC20_HUMAN	M	184;208;208	ENSP00000308450:L208M;ENSP00000361540:L208M	ENSP00000308450:L208M	L	+	1	2	CDC20	43598516	0.998000	0.40836	0.998000	0.56505	0.987000	0.75469	0.911000	0.28584	0.073000	0.16731	-0.345000	0.07892	CTG	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.512	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDC20	protein_coding	OTTHUMT00000019488.1	C	NM_001255	-		43825929	1	no_errors	ENST00000310955	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43825929	C	A	43825929	3	1	167	1	0	0	0	0	1	0	0	0	3061	680	24	3	640	3	CDC20	1	43825929	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	778763	43825929	205424692	4	11775											
KCND3	3752	genome.wustl.edu	37	chr1	112525032	112525032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagatgcactcgtagcgcGggtagtgcagcttccccgtg	14	12	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:112525032G>T	ENST00000315987.2	-	2	796	c.317C>A	c.(316-318)cCg>cAg	p.P106Q	KCND3_ENST00000369697.1_Missense_Mutation_p.P106Q|KCND3_ENST00000302127.4_Missense_Mutation_p.P106Q	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	106					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTCGTAGCGCGGGTAGTGCAG	0.602																																																	0								ENSG00000171385						113	98	103					1																	112525032		2203	4300	6503	KCND3	SO:0001583	missense	0			-	HGNC	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.317C>A	1.37:g.112525032G>T	ENSP00000319591:p.Pro106Gln	Somatic	0	27	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.30	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.P106Q	ENST00000315987.2	37	c.317	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368782	0.82463	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.52754	0.65;0.65;0.65	5.61	5.61	0.85477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83835	0.0254	10	0.62326	D	0.03	.	19.2336	0.93849	0.0:0.0:1.0:0.0	.	106;106	Q14D71;Q9UK17	.;KCND3_HUMAN	Q	106	ENSP00000358711:P106Q;ENSP00000319591:P106Q;ENSP00000306923:P106Q	ENSP00000306923:P106Q	P	-	2	0	KCND3	112326555	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	CCG	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3		0.602	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	protein_coding	OTTHUMT00000033144.1	G	NM_172198	-		112525032	-1	no_errors	ENST00000315987	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112525032	G	T	112525032	3	4	167	1	0	0	0	0	1	0	0	0	8022	1116	39	3	1678	3	KCND3	1	112525032	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	68699103	112525032	136725589	5	11776											
VTCN1	79679	genome.wustl.edu	37	chr1	117699367	117699367	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgaacatttcatcctgctCcgacagctcatctttgcctt	5	14	4	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:117699367C>A	ENST00000369458.3	-	3	352	c.274G>T	c.(274-276)Gag>Tag	p.E92*	VTCN1_ENST00000359008.4_Nonsense_Mutation_p.E95*|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TCATCCTGCTCCGACAGCTCA	0.463																																																	0								ENSG00000134258						120	109	113					1																	117699367		2203	4300	6503	VTCN1	SO:0001587	stop_gained	0			-	HGNC	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.274G>T	1.37:g.117699367C>A	ENSP00000358470:p.Glu92*	Somatic	0	34	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Nonsense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E95*	ENST00000369458.3	37	c.283	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996333	0.74818	.	.	ENSG00000134258	ENST00000369458;ENST00000359008	.	.	.	5.93	3.95	0.45737	.	0.943176	0.08924	N	0.874001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.3026	14.235	0.65919	0.0:0.6402:0.3598:0.0	.	.	.	.	X	92;95	.	ENSP00000351899:E95X	E	-	1	0	VTCN1	117500890	0.001000	0.12720	0.951000	0.38953	0.856000	0.48823	0.520000	0.22878	0.712000	0.32039	0.637000	0.83480	GAG	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.463	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	protein_coding	OTTHUMT00000033500.2	C	NM_024626	-		117699367	-1	no_errors	ENST00000359008	ensembl	human	known	74_37	nonsense	SNP	0.936	A	A	117699367	C	A	117699367	4	1	167	1	0	0	0	0	0	1	0	0	17241	864	30	3	586	3	VTCN1	1	117699367	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	5174335	117699367	131551254	6	11777											
FAM46C	54855	genome.wustl.edu	37	chr1	118165499	118165499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcccctgaagatggcagaGgagagcagctgtaccaggga	14	10	0	4			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:118165499G>T	ENST00000369448.3	+	2	256	c.9G>T	c.(7-9)gaG>gaT	p.E3D		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	3										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGATGGCAGAGGAGAGCAGCT	0.532			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																														Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	0								ENSG00000183508						74	64	67					1																	118165499		2203	4300	6503	FAM46C	SO:0001583	missense	0			-	HGNC	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.9G>T	1.37:g.118165499G>T	ENSP00000358458:p.Glu3Asp	Somatic	0	32	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP							pfam_DUF1693	p.E3D	ENST00000369448.3	37	c.9	CCDS896.1	1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778056	0.16120	.	.	ENSG00000183508	ENST00000369448	T	0.22336	1.96	5.75	1.08	0.20341	.	2.220440	0.03381	U	0.200356	T	0.03564	0.0102	N	0.08118	0	0.25966	N	0.982565	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.31617	T	0.26	3.5476	7.7663	0.28982	0.0818:0.5964:0.2146:0.1072	.	3	Q5VWP2	FA46C_HUMAN	D	3	ENSP00000358458:E3D	ENSP00000358458:E3D	E	+	3	2	FAM46C	117967022	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.427000	0.21379	0.322000	0.23283	0.655000	0.94253	GAG	-	NULL		0.532	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46C	protein_coding	OTTHUMT00000038424.1	G	NM_017709	-		118165499	1	no_errors	ENST00000369448	ensembl	human	known	74_37	missense	SNP	0.966	T	T	118165499	G	T	118165499	3	4	167	1	0	0	0	0	1	0	0	0	5569	991	35	3	11	3	FAM46C	1	118165499	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	466132	118165499	131085122	7	11778											
UHMK1	127933	genome.wustl.edu	37	chr1	162492294	162492294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtggctacattctaccCgctgagtgcctacaagaggg	12	10	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:162492294C>A	ENST00000489294.1	+	8	1372	c.1214C>A	c.(1213-1215)cCg>cAg	p.P405Q	UHMK1_ENST00000538489.1_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.P331Q|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	405	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)	p.P405L(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACATTCTACCCGCTGAGTGCC	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000152332						158	156	156					1																	162492294		2203	4300	6503	UHMK1	SO:0001583	missense	0			-	HGNC	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.1214C>A	1.37:g.162492294C>A	ENSP00000420270:p.Pro405Gln	Somatic	0	45	0		0.528406935447922	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom	p.P405Q	ENST00000489294.1	37	c.1214	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283911	0.80803	.	.	ENSG00000152332	ENST00000545294;ENST00000489294	T;T	0.76839	-0.19;-1.05	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	M	0.85859	2.78	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.88860	0.3325	9	0.87932	D	0	-6.8932	15.9723	0.80031	0.0:1.0:0.0:0.0	.	405;331	Q8TAS1;G3V1M1	UHMK1_HUMAN;.	Q	331;405	ENSP00000441226:P331Q;ENSP00000420270:P405Q	ENSP00000420270:P405Q	P	+	2	0	UHMK1	160758918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.856000	0.75450	2.788000	0.95919	0.650000	0.86243	CCG	-	NULL		0.423	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	protein_coding	OTTHUMT00000076788.1	C	NM_175866	-		162492294	1	no_errors	ENST00000489294	ensembl	human	known	74_37	missense	SNP	1.000	A	A	162492294	C	A	162492294	3	1	167	1	0	0	0	0	1	0	0	0	16973	652	23	3	1294	3	UHMK1	1	162492294	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	44326795	162492294	86758327	8	11779											
ANGEL2	90806	genome.wustl.edu	37	chr1	213168389	213168389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcaaagagagtcagagCtcaagtctgaactttgccaa	10	8	4	4	rs532245447		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:213168389C>A	ENST00000366962.3	-	9	1783	c.1629G>T	c.(1627-1629)gaG>gaT	p.E543D	ANGEL2_ENST00000544555.1_Missense_Mutation_p.E374D|ANGEL2_ENST00000473303.1_5'UTR|ANGEL2_ENST00000535388.1_3'UTR|ANGEL2_ENST00000360506.2_Missense_Mutation_p.E374D|ANGEL2_ENST00000540642.1_Missense_Mutation_p.E417D	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	543										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		AGAGTCAGAGCTCAAGTCTGA	0.328																																																	0								ENSG00000174606						101	100	101					1																	213168389		2203	4300	6503	ANGEL2	SO:0001583	missense	0			-	HGNC	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1629G>T	1.37:g.213168389C>A	ENSP00000355929:p.Glu543Asp	Somatic	0	44	0		0.528406935447922	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.E543D	ENST00000366962.3	37	c.1629	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742304	0.30865	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642	D;T;T;D	0.95238	-3.65;0.93;0.93;-3.65	5.89	-4.84	0.03151	Endonuclease/exonuclease/phosphatase (1);	0.497263	0.23395	N	0.048655	D	0.85349	0.5676	N	0.20685	0.6	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.005	T	0.61397	-0.7071	10	0.34782	T	0.22	-3.8739	8.8243	0.35045	0.0:0.4359:0.0931:0.4711	.	417;543	F5H476;Q5VTE6	.;ANGE2_HUMAN	D	543;374;374;417	ENSP00000355929:E543D;ENSP00000353696:E374D;ENSP00000443193:E374D;ENSP00000446124:E417D	ENSP00000353696:E374D	E	-	3	2	ANGEL2	211235012	0.000000	0.05858	0.723000	0.30687	0.758000	0.43043	-1.218000	0.02976	-0.996000	0.03455	-1.028000	0.02416	GAG	-	superfamily_Endo/exonuclease/phosphatase		0.328	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	protein_coding	OTTHUMT00000089693.1	C	NM_144567	-		213168389	-1	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	SNP	0.912	A	A	213168389	C	A	213168389	3	1	167	1	0	0	0	0	1	0	0	0	609	796	28	3	9	3	ANGEL2	1	213168389	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	50676095	213168389	36082232	9	11780											
CHML	1122	genome.wustl.edu	37	chr1	241797739	241797739	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcacatttgagcatgtttCctcagaaaggtaactgtctt	8	9	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:241797739C>A	ENST00000366553.1	-	1	1493	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	444					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GAGCATGTTTCCTCAGAAAGG	0.358																																																	0								ENSG00000203668						104	106	105					1																	241797739		2203	4300	6503	CHML	SO:0001587	stop_gained	0			-	HGNC	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1330G>T	1.37:g.241797739C>A	ENSP00000355511:p.Glu444*	Somatic	0	32	0		0.528406935447922	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B2RAB9|Q17RE0|Q9H1Y4	Nonsense_Mutation	SNP							pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.E444*	ENST00000366553.1	37	c.1330	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.332581	0.97480	.	.	ENSG00000203668	ENST00000366553	.	.	.	5.08	2.21	0.28008	.	1.393940	0.04048	U	0.304261	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.684	6.6163	0.22778	0.0:0.7134:0.0:0.2866	.	.	.	.	X	444	.	ENSP00000355511:E444X	E	-	1	0	CHML	239864362	0.998000	0.40836	0.985000	0.45067	0.970000	0.65996	1.010000	0.29898	0.856000	0.35383	0.655000	0.94253	GAA	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk		0.358	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	protein_coding	OTTHUMT00000095712.1	C	NM_001821	-		241797739	-1	no_errors	ENST00000366553	ensembl	human	known	74_37	nonsense	SNP	0.992	A	A	241797739	C	A	241797739	4	1	167	1	0	0	0	0	0	1	0	0	3353	864	30	3	644	3	CHML	1	241797739	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	28629350	241797739	7452882	10	11781											
OR2W3	343171	genome.wustl.edu	37	chr1	248058999	248058999	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcctgatcgcgtacctcctGaccctcgtaggcaacaccac	7	17	0	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr1:248058999G>T	ENST00000360358.3	+	1	111	c.111G>T	c.(109-111)ctG>ctT	p.L37L	OR2W3_ENST00000537741.1_Silent_p.L37L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGTACCTCCTGACCCTCGTAG	0.582																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000238243						176	155	162					1																	248058999		2203	4300	6503	OR2W3	SO:0001819	synonymous_variant	0			-	HGNC	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.111G>T	1.37:g.248058999G>T		Somatic	0	54	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q6IF06|Q8NG86	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L37	ENST00000360358.3	37	c.111	CCDS31099.1	1																																																																																			-	prints_GPCR_Rhodpsn		0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	protein_coding	OTTHUMT00000096861.1	G	NM_001001957	-		248058999	1	no_errors	ENST00000360358	ensembl	human	known	74_37	silent	SNP	0.078	T	T	248058999	G	T	248058999	2	4	167	1	0	0	0	0	0	0	0	1	11035	1277	45	3		3	OR2W3	1	248058999	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	6261260	248058999	1191622	11	11782											
MARS2	92935	genome.wustl.edu	37	chr2	198571474	198571474	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcaggcagaggattatgctCtggtgagcgcagtggccact	14	10	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr2:198571474C>G	ENST00000282276.6	+	1	1388	c.1345C>G	c.(1345-1347)Ctg>Gtg	p.L449V	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	449					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GGATTATGCTCTGGTGAGCGC	0.552																																																	0								ENSG00000247626						88	91	90					2																	198571474		2203	4300	6503	MARS2	SO:0001583	missense	0			-	HGNC	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1345C>G	2.37:g.198571474C>G	ENSP00000282276:p.Leu449Val	Somatic	0	28	0		0.528406935447922	8	52.94	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	16	52.94	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP							pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.L449V	ENST00000282276.6	37	c.1345	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479740	0.26511	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.53857	0.6	5.17	-0.14	0.13456	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.230148	0.42964	D	0.000623	T	0.41419	0.1158	L	0.46157	1.445	0.36490	D	0.868386	P	0.38711	0.643	B	0.38327	0.271	T	0.45425	-0.9262	10	0.72032	D	0.01	-10.7732	7.9483	0.29999	0.0:0.3751:0.0:0.6249	.	449	Q96GW9	SYMM_HUMAN	V	449;376	ENSP00000282276:L449V	ENSP00000282276:L449V	L	+	1	2	MARS2	198279719	0.259000	0.24043	0.940000	0.37924	0.989000	0.77384	0.287000	0.18920	0.058000	0.16222	-0.140000	0.14226	CTG	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth		0.552	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	protein_coding	OTTHUMT00000335477.1	C	NM_138395	-		198571474	1	no_errors	ENST00000282276	ensembl	human	known	74_37	missense	SNP	0.965	G	G	198571474	C	G	198571474	3	3	167	1	0	0	0	0	1	0	0	0	9319	912	32	4	1347	4	MARS2	2	198571474	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		198571474	44627899	12	11783											
C3orf23	285343	genome.wustl.edu	37	chr3	44442725	44442725	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctccaagcttgcatgaactCgggcattttaatattccaac	7	11	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr3:44442725C>A	ENST00000342649.4	+	10	1576	c.1149C>A	c.(1147-1149)ctC>ctA	p.L383L	TCAIM_ENST00000417237.1_Silent_p.L383L	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	383						mitochondrion (GO:0005739)											TGCATGAACTCGGGCATTTTA	0.408																																																	0								ENSG00000179152						144	137	140					3																	44442725		2203	4300	6503	TCAIM	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1149C>A	3.37:g.44442725C>A		Somatic	0	40	0		0.528406935447922	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP							NULL	p.L383	ENST00000342649.4	37	c.1149	CCDS2712.1	3																																																																																			-	NULL		0.408	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	protein_coding	OTTHUMT00000256655.2	C	NM_173826	-		44442725	1	no_errors	ENST00000342649	ensembl	human	known	74_37	silent	SNP	0.316	A	A	44442725	C	A	44442725	2	1	167	1	0	0	0	0	0	0	0	1	2218	871	31	3		3	C3orf23	3	44442725	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		44442725	153579705	13	11784											
XCR1	2829	genome.wustl.edu	37	chr3	46063291	46063291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacccacaggaccaggCtgttgcccactaggctgagg	13	14	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr3:46063291C>T	ENST00000309285.3	-	2	505	c.149G>A	c.(148-150)aGc>aAc	p.S50N	XCR1_ENST00000542109.1_Missense_Mutation_p.S50N	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	50					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGGACCAGGCTGTTGCCCAC	0.577																																																	0								ENSG00000173578						121	114	117					3																	46063291		2203	4300	6503	XCR1	SO:0001583	missense	0			-	HGNC		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.149G>A	3.37:g.46063291C>T	ENSP00000310405:p.Ser50Asn	Somatic	0	53	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.S50N	ENST00000309285.3	37	c.149	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572843	0.45798	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.39056	1.1;1.1	5.24	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.292976	0.38605	N	0.001625	T	0.47021	0.1423	M	0.84326	2.69	0.26488	N	0.974996	B	0.23128	0.08	B	0.25614	0.062	T	0.50541	-0.8816	10	0.66056	D	0.02	.	10.401	0.44229	0.0:0.7793:0.1442:0.0765	.	50	P46094	XCR1_HUMAN	N	50	ENSP00000310405:S50N;ENSP00000438119:S50N	ENSP00000310405:S50N	S	-	2	0	XCR1	46038295	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.232000	0.32636	1.209000	0.43321	0.650000	0.86243	AGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	protein_coding	OTTHUMT00000257322.2	C		-		46063291	-1	no_errors	ENST00000309285	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46063291	C	T	46063291	3	4	167	1	0	0	0	0	1	0	0	0	17432	797	28	2	856	2	XCR1	3	46063291	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	1620566	46063291	151959139	14	11785											
IFT57	55081	genome.wustl.edu	37	chr3	107885832	107885832	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagtttgtccaaaaatcCctagaaattccatggaattt	7	7	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr3:107885832C>A	ENST00000264538.3	-	8	1097	c.850G>T	c.(850-852)Gga>Tga	p.G284*	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	284					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TCCAAAAATCCCTAGAAATTC	0.318																																																	0								ENSG00000114446						77	75	76					3																	107885832		2203	4298	6501	IFT57	SO:0001630	splice_region_variant	0			-	HGNC	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.850-1G>T	3.37:g.107885832C>A		Somatic	0	57	0		0.528406935447922	99	1	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q96DA9	Nonsense_Mutation	SNP							pfam_Intra-flagellar_transport_57,superfamily_t-SNARE	p.G284*	ENST00000264538.3	37	c.850	CCDS2951.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.540874	0.97650	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.78	5.78	0.91487	.	0.048959	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.0216	0.97506	0.0:1.0:0.0:0.0	.	.	.	.	X	284	.	ENSP00000264538:G284X	G	-	1	0	IFT57	109368522	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.130000	0.64745	2.735000	0.93741	0.650000	0.86243	GGA	-	pfam_Intra-flagellar_transport_57,superfamily_t-SNARE		0.318	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT57	protein_coding	OTTHUMT00000353918.1	C	NM_018010	-	Nonsense_Mutation	107885832	-1	no_errors	ENST00000264538	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	107885832	C	A	107885832	5	1	167	1	0	0	0	0	0	0	1	0	7564	637	22	3	455	3	IFT57	3	107885832	Splice_Site	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	61822541	107885832	90136598	15	11786											
ECE2	9718	genome.wustl.edu	37	chr3	184009139	184009139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgtccccaggcttacaAagcatggctgagaaagcatg	11	10	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr3:184009139A>C	ENST00000402825.3	+	18	2387	c.2387A>C	c.(2386-2388)aAa>aCa	p.K796T	ECE2_ENST00000404464.3_Missense_Mutation_p.K678T|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.K649T|ECE2_ENST00000357474.5_Missense_Mutation_p.K724T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	796	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCTTACAAAGCATGGCTG	0.627																																																	0								ENSG00000145194						75	76	75					3																	184009139		2203	4300	6503	ECE2	SO:0001583	missense	0			-	HGNC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2387A>C	3.37:g.184009139A>C	ENSP00000384223:p.Lys796Thr	Somatic	0	54	0		0.528406935447922	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.K796T	ENST00000402825.3	37	c.2387	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	A	6.030	0.373840	0.11409	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81	5.19	2.75	0.32379	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.406947	0.26609	N	0.023431	D	0.89608	0.6764	M	0.70275	2.135	0.25362	N	0.98878	B;B;B;B;B	0.26602	0.154;0.011;0.001;0.001;0.0	B;B;B;B;B	0.38020	0.263;0.029;0.003;0.003;0.005	T	0.82291	-0.0530	10	0.52906	T	0.07	-1.8311	6.3379	0.21306	0.7556:0.1595:0.0848:0.0	.	398;678;724;649;796	B4DHU4;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;ECE2_HUMAN	T	796;649;678;724;670	ENSP00000384223:K796T;ENSP00000352052:K649T;ENSP00000385846:K678T;ENSP00000350066:K724T;ENSP00000398444:K670T	ENSP00000350066:K724T	K	+	2	0	ECE2	185491833	0.005000	0.15991	0.603000	0.28903	0.429000	0.31625	1.864000	0.39469	0.289000	0.22422	0.459000	0.35465	AAA	-	pfam_Peptidase_M13_C		0.627	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	A	NM_014693	-		184009139	1	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	SNP	0.106	C	C	184009139	A	C	184009139	3	2	167	1	0	0	0	0	1	0	0	0	4892	14	1	5	3021	5	ECE2	3	184009139	Missense_Mutation	SNP	A	TCGA-JV-A75J-01A-11D-A32I-09	76123307	184009139	14013291	16	11787											
TRA2B	6434	genome.wustl.edu	37	chr3	185638941	185638941	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatagccccgatcatatcCtctgtcatagtaatcccgac	5	14	4	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr3:185638941C>A	ENST00000453386.2	-	6	948	c.673G>T	c.(673-675)Gga>Tga	p.G225*	TRA2B_ENST00000382191.4_Nonsense_Mutation_p.G125*	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	225	Linker.				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						CGATCATATCCTCTGTCATAG	0.418																																																	0								ENSG00000136527						118	108	112					3																	185638941		2203	4300	6503	TRA2B	SO:0001587	stop_gained	0			-	HGNC	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.673G>T	3.37:g.185638941C>A	ENSP00000416959:p.Gly225*	Somatic	0	35	0		0.528406935447922	832	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Nonsense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G225*	ENST00000453386.2	37	c.673	CCDS33905.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.266890|5.266890	0.95399|0.95399	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000259043;ENST00000414862|ENST00000453386;ENST00000382191	.|.	.|.	.|.	6.07|6.07	5.2|5.2	0.72013|0.72013	.|.	.|0.048051	.|0.85682	.|D	.|0.000000	T|.	0.54870|.	0.1885|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.47849|.	-0.9085|.	4|.	.|0.11485	.|T	.|0.65	-8.6399|-8.6399	16.4581|16.4581	0.84029|0.84029	0.0:0.8685:0.1315:0.0|0.0:0.8685:0.1315:0.0	.|.	.|.	.|.	.|.	D|X	83;44|225;125	.|.	.|ENSP00000371626:G125X	E|G	-|-	3|1	2|0	TRA2B|TRA2B	187121635|187121635	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.864000|0.864000	0.49448|0.49448	7.375000|7.375000	0.79646|0.79646	1.567000|1.567000	0.49668|0.49668	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	NULL		0.418	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	protein_coding	OTTHUMT00000344984.1	C	NM_004593	-		185638941	-1	no_errors	ENST00000453386	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	185638941	C	A	185638941	4	1	167	1	0	0	0	0	0	1	0	0	16441	690	24	3	209	3	TRA2B	3	185638941	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	1629802	185638941	12383489	17	11788											
NCAPG	64151	genome.wustl.edu	37	chr4	17814000	17814000	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatggaagatgatgaggaaGaggaagatggtggcctttta	15	2	0	5			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:17814000G>T	ENST00000251496.2	+	2	444	c.268G>T	c.(268-270)Gag>Tag	p.E90*	DCAF16_ENST00000382247.1_5'Flank|DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_5'Flank	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	90	Poly-Glu.				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)		TGATGAGGAAGAGGAAGATGG	0.368																																																	0								ENSG00000109805						95	95	95					4																	17814000		2203	4300	6503	NCAPG	SO:0001587	stop_gained	0			-	HGNC	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.268G>T	4.37:g.17814000G>T	ENSP00000251496:p.Glu90*	Somatic	0	56	0		0.528406935447922	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP							superfamily_ARM-type_fold	p.E90*	ENST00000251496.2	37	c.268	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805557	0.90623	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.28	5.28	0.74379	.	0.184835	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.4881	18.9302	0.92561	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000251496:E90X	E	+	1	0	NCAPG	17423098	1.000000	0.71417	0.519000	0.27824	0.255000	0.26057	9.280000	0.95786	2.469000	0.83416	0.655000	0.94253	GAG	-	superfamily_ARM-type_fold		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	protein_coding	OTTHUMT00000250375.1	G	NM_022346	-		17814000	1	no_errors	ENST00000251496	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	17814000	G	T	17814000	4	4	167	1	0	0	0	0	0	1	0	0	10209	943	33	3	274	3	NCAPG	4	17814000	Nonsense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		17814000	173340276	18	11789											
ZCCHC4	29063	genome.wustl.edu	37	chr4	25353250	25353250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccattttctggattttccCctatttttttgaatcccgaa	4	11	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:25353250C>A	ENST00000302874.4	+	8	974	c.950C>A	c.(949-951)cCc>cAc	p.P317H	AC108218.1_ENST00000580712.1_RNA|ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	317							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TGGATTTTCCCCTATTTTTTT	0.348																																																	0								ENSG00000168228						143	131	135					4																	25353250		1786	4063	5849	ZCCHC4	SO:0001583	missense	0			-	HGNC	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.950C>A	4.37:g.25353250C>A	ENSP00000303468:p.Pro317His	Somatic	0	46	0		0.528406935447922	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP							pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase	p.P317H	ENST00000302874.4	37	c.950	CCDS43218.1	4	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453933	0.84209	.	.	ENSG00000168228	ENST00000302874	T	0.73681	-0.77	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89069	0.3468	10	0.87932	D	0	-21.2399	19.1733	0.93590	0.0:1.0:0.0:0.0	.	317	Q9H5U6	ZCHC4_HUMAN	H	317	ENSP00000303468:P317H	ENSP00000303468:P317H	P	+	2	0	ZCCHC4	24962348	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.596000	0.67570	2.815000	0.96918	0.650000	0.86243	CCC	-	NULL		0.348	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC4	protein_coding	OTTHUMT00000361151.1	C		-		25353250	1	no_errors	ENST00000302874	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25353250	C	A	25353250	3	1	167	1	0	0	0	0	1	0	0	0	17597	623	22	3	980	3	ZCCHC4	4	25353250	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	7539250	25353250	165801026	19	11790											
APBB2	323	genome.wustl.edu	37	chr4	41016404	41016404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacactgccaaggtgtcaaCacctgagtcagctggggaaa	11	10	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:41016404C>A	ENST00000295974.8	-	6	660	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	APBB2_ENST00000508593.1_Missense_Mutation_p.V11F|APBB2_ENST00000506352.1_Missense_Mutation_p.V11F|APBB2_ENST00000513140.1_Missense_Mutation_p.V11F	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	11					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AAGGTGTCAACACCTGAGTCA	0.428																																					Ovarian(3;20 75 16686 49997)												0								ENSG00000163697						64	61	62					4																	41016404		1955	4155	6110	APBB2	SO:0001583	missense	0			-	HGNC	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.31G>T	4.37:g.41016404C>A	ENSP00000295974:p.Val11Phe	Somatic	0	45	0		0.528406935447922	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.V11F	ENST00000295974.8	37	c.31	CCDS54761.1	4	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409705	0.11812	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000508707;ENST00000508676	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.87	4.03	0.46877	.	0.847663	0.10205	N	0.702790	T	0.23210	0.0561	N	0.19112	0.55	0.21355	N	0.999713	B;P;B	0.35192	0.357;0.489;0.303	B;B;B	0.39660	0.161;0.306;0.121	T	0.29610	-1.0006	10	0.87932	D	0	0.0	13.0816	0.59117	0.0:0.9227:0.0:0.0773	.	11;11;11	E9PG87;Q92870-2;Q92870	.;.;APBB2_HUMAN	F	11;10;11;11;11;11;11	ENSP00000295974:V11F;ENSP00000426018:V11F;ENSP00000427211:V11F;ENSP00000421539:V11F;ENSP00000424579:V11F	ENSP00000295974:V11F	V	-	1	0	APBB2	40711161	0.105000	0.21958	0.610000	0.28997	0.007000	0.05969	1.891000	0.39738	1.283000	0.44513	0.561000	0.74099	GTT	-	NULL		0.428	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	protein_coding	OTTHUMT00000360523.3	C	NM_173075	-		41016404	-1	no_errors	ENST00000295974	ensembl	human	known	74_37	missense	SNP	0.253	A	A	41016404	C	A	41016404	3	1	167	1	0	0	0	0	1	0	0	0	761	478	17	3	2300	3	APBB2	4	41016404	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	15663154	41016404	150137872	20	11791											
UBA6	55236	genome.wustl.edu	37	chr4	68488624	68488624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgtaccaccattgttGgctcaattccatacttctcc	4	16	2	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:68488624G>T	ENST00000322244.5	-	32	3007	c.2948C>A	c.(2947-2949)cCa>cAa	p.P983Q		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	983					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CACCATTGTTGGCTCAATTCC	0.343																																																	0								ENSG00000033178						124	116	118					4																	68488624		2203	4300	6503	UBA6	SO:0001583	missense	0			-	HGNC	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2948C>A	4.37:g.68488624G>T	ENSP00000313454:p.Pro983Gln	Somatic	0	44	0		0.528406935447922	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP							pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.P983Q	ENST00000322244.5	37	c.2948	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813879	0.90790	.	.	ENSG00000033178	ENST00000322244	T	0.43294	0.95	6.07	6.07	0.98685	Ubiquitin-activating enzyme e1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64019	-0.6505	10	0.72032	D	0.01	-21.052	20.6593	0.99626	0.0:0.0:1.0:0.0	.	983	A0AVT1	UBA6_HUMAN	Q	983	ENSP00000313454:P983Q	ENSP00000313454:P983Q	P	-	2	0	UBA6	68171219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.885000	0.99019	0.655000	0.94253	CCA	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1		0.343	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	protein_coding	OTTHUMT00000251429.2	G	NM_018227	-		68488624	-1	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68488624	G	T	68488624	3	4	167	1	0	0	0	0	1	0	0	0	16839	1348	47	3	218	3	UBA6	4	68488624	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	27472220	68488624	122665652	21	11792											
SULT1B1	27284	genome.wustl.edu	37	chr4	70620481	70620481	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaatatctccatcatttaGaatcatgtctataatttcac	2	9	6	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:70620481G>T	ENST00000310613.3	-	3	481	c.184C>A	c.(184-186)Cta>Ata	p.L62I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	62					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						CCATCATTTAGAATCATGTCT	0.338																																																	0								ENSG00000173597						99	106	104					4																	70620481		2203	4294	6497	SULT1B1	SO:0001583	missense	0			-	HGNC	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.184C>A	4.37:g.70620481G>T	ENSP00000308770:p.Leu62Ile	Somatic	0	57	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L62I	ENST00000310613.3	37	c.184	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	G	8.214	0.801053	0.16397	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	T;T;T	0.01887	4.58;4.58;4.58	5.13	0.469	0.16741	Sulfotransferase domain (1);	0.188056	0.25839	N	0.027971	T	0.03783	0.0107	M	0.62723	1.935	0.23943	N	0.996398	B	0.24132	0.098	B	0.34452	0.183	T	0.32851	-0.9891	10	0.41790	T	0.15	.	8.7888	0.34837	0.4002:0.0:0.5998:0.0	.	62	O43704	ST1B1_HUMAN	I	62;62;43	ENSP00000308770:L62I;ENSP00000425464:L62I;ENSP00000427536:L43I	ENSP00000308770:L62I	L	-	1	2	SULT1B1	70655070	0.364000	0.24997	0.031000	0.17742	0.158000	0.22134	0.287000	0.18920	-0.159000	0.11021	-0.237000	0.12165	CTA	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.338	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	protein_coding	OTTHUMT00000251563.2	G	NM_014465	-		70620481	-1	no_errors	ENST00000310613	ensembl	human	known	74_37	missense	SNP	0.455	T	T	70620481	G	T	70620481	3	4	167	1	0	0	0	0	1	0	0	0	15383	933	33	3	730	3	SULT1B1	4	70620481	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	2131857	70620481	120533795	22	11793											
WDFY3	23001	genome.wustl.edu	37	chr4	85642697	85642697	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccatcaggtgcagatcgGgagcgttttagaggaggctt	14	9	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:85642697G>T	ENST00000295888.4	-	47	7877	c.7470C>A	c.(7468-7470)tcC>tcA	p.S2490S	WDFY3_ENST00000322366.6_Silent_p.S2473S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2490	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTGCAGATCGGGAGCGTTTTA	0.488																																																	0								ENSG00000163625						105	96	99					4																	85642697		2203	4300	6503	WDFY3	SO:0001819	synonymous_variant	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7470C>A	4.37:g.85642697G>T		Somatic	0	47	0		0.528406935447922	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2490	ENST00000295888.4	37	c.7470	CCDS3609.1	4																																																																																			-	NULL		0.488	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991	-		85642697	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	SNP	0.973	T	T	85642697	G	T	85642697	2	4	167	1	0	0	0	0	0	0	0	1	17277	1219	43	3		3	WDFY3	4	85642697	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	15022216	85642697	105511579	23	11794											
NDST3	9348	genome.wustl.edu	37	chr4	119154221	119154221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttccatccttagtaactCccccagcccaaaaacctttg	3	17	0	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:119154221C>T	ENST00000296499.5	+	9	2277	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F	NDST3_ENST00000433996.2_Missense_Mutation_p.S544F	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	625	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTAGTAACTCCCCCAGCCCA	0.363																																																	0								ENSG00000164100						161	159	160					4																	119154221		2203	4300	6503	NDST3	SO:0001583	missense	0			-	HGNC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1874C>T	4.37:g.119154221C>T	ENSP00000296499:p.Ser625Phe	Somatic	0	108	0		0.528406935447922	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	60	39.39	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S625F	ENST00000296499.5	37	c.1874	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838135	0.16891	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.55052	0.54;0.54	5.64	5.64	0.86602	Sulfotransferase domain (1);	0.057217	0.64402	D	0.000001	T	0.23532	0.0569	N	0.01431	-0.87	0.32449	N	0.545642	B;B	0.15719	0.014;0.0	B;B	0.14578	0.011;0.004	T	0.21690	-1.0238	10	0.09338	T	0.73	.	12.9795	0.58555	0.0:0.926:0.0:0.074	.	544;625	B4DI67;O95803	.;NDST3_HUMAN	F	625;544	ENSP00000296499:S625F;ENSP00000396625:S544F	ENSP00000296499:S625F	S	+	2	0	NDST3	119373669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.344000	0.44010	2.645000	0.89757	0.637000	0.83480	TCC	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.363	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	protein_coding	OTTHUMT00000256517.4	C	NM_004784	-		119154221	1	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119154221	C	T	119154221	3	4	167	1	0	0	0	0	1	0	0	0	10259	855	30	2	1904	2	NDST3	4	119154221	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	33511524	119154221	72000055	24	11795											
PDLIM3	27295	genome.wustl.edu	37	chr4	186435435	186435435	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttatgacctgcttcggccCgggatcacgaaaggtttggg	14	10	1	1	rs138670107	byFrequency	TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:186435435C>A	ENST00000284770.5	-	4	460	c.387G>T	c.(385-387)ccG>ccT	p.P129P	PDLIM3_ENST00000284771.6_Intron|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	129					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGCTTCGGCCCGGGATCACGA	0.453																																																	0								ENSG00000154553						102	97	99					4																	186435435		2203	4300	6503	PDLIM3	SO:0001819	synonymous_variant	0			-	HGNC	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.387G>T	4.37:g.186435435C>A		Somatic	0	45	0		0.528406935447922	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP							pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P129	ENST00000284770.5	37	c.387	CCDS3844.1	4																																																																																			-	NULL		0.453	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	protein_coding	OTTHUMT00000360499.2	C	NM_014476	-		186435435	-1	no_errors	ENST00000284770	ensembl	human	known	74_37	silent	SNP	1.000	A	A	186435435	C	A	186435435	2	1	167	1	0	0	0	0	0	0	0	1	11683	639	23	3		3	PDLIM3	4	186435435	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	67281214	186435435	4718841	25	11796											
TRIML2	205860	genome.wustl.edu	37	chr4	189012788	189012788	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggggggaagacccagagAgtccactcggtccccatcac	13	13	1	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr4:189012788A>T	ENST00000512729.1	-	7	1277	c.903T>A	c.(901-903)acT>acA	p.T301T	TRIML2_ENST00000326754.3_Silent_p.T326T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGACCCAGAGAGTCCACTCGG	0.562																																																	0								ENSG00000179046						135	150	145					4																	189012788		2203	4300	6503	TRIML2	SO:0001819	synonymous_variant	0			-	HGNC	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.903T>A	4.37:g.189012788A>T		Somatic	0	43	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	18	47.06	B7Z6J6	Silent	SNP							pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.T301	ENST00000512729.1	37	c.903	CCDS3850.1	4																																																																																			-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.562	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	protein_coding	OTTHUMT00000359733.1	A	NM_173553	-		189012788	-1	no_errors	ENST00000512729	ensembl	human	known	74_37	silent	SNP	0.000	T	T	189012788	A	T	189012788	2	4	167	1	0	0	0	0	0	0	0	1	16558	291	11	5		5	TRIML2	4	189012788	Silent	SNP	A	TCGA-JV-A75J-01A-11D-A32I-09	2577353	189012788	2141488	26	11797											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33535070	33535070	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattggacagtcctcttctGaaagccacctccacaggaag	8	13	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:33535070G>T	ENST00000504830.1	-	23	4809	c.4474C>A	c.(4474-4476)Cag>Aag	p.Q1492K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1407K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1492	TSP type-1 8. {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						GTCCTCTTCTGAAAGCCACCT	0.483										HNSCC(64;0.19)																																							0								ENSG00000151388						89	84	86					5																	33535070		2203	4300	6503	ADAMTS12	SO:0001583	missense	0			-	HGNC	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.4474C>A	5.37:g.33535070G>T	ENSP00000422554:p.Gln1492Lys	Somatic	0	25	0		0.528406935447922	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q1492K	ENST00000504830.1	37	c.4474	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120780	0.77436	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.55052	0.54;0.54	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	M	0.77486	2.375	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.74023	0.969;0.982	T	0.73845	-0.3854	10	0.52906	T	0.07	.	14.1242	0.65210	0.0:0.0:1.0:0.0	.	1407;1492	P58397-3;P58397	.;ATS12_HUMAN	K	1492;1407	ENSP00000422554:Q1492K;ENSP00000344847:Q1407K	ENSP00000344847:Q1407K	Q	-	1	0	ADAMTS12	33570827	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.606000	0.54095	2.470000	0.83445	0.563000	0.77884	CAG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	G	NM_030955	-		33535070	-1	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33535070	G	T	33535070	3	4	167	1	0	0	0	0	1	0	0	0	257	1299	45	3	318	3	ADAMTS12	5	33535070	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		33535070	147380190	27	11798											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33561192	33561192	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcatctttttgcaggGtcaggtctctggatggccgc	15	9	3	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:33561192G>C	ENST00000504830.1	-	20	4400	c.4065C>G	c.(4063-4065)gaC>gaG	p.D1355E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1270E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1355	TSP type-1 5. {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						TTTTTGCAGGGTCAGGTCTCT	0.567										HNSCC(64;0.19)																																							0								ENSG00000151388						131	118	122					5																	33561192		2203	4300	6503	ADAMTS12	SO:0001583	missense	0			-	HGNC	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.4065C>G	5.37:g.33561192G>C	ENSP00000422554:p.Asp1355Glu	Somatic	0	77	0		0.528406935447922	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	29	56.06	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D1355E	ENST00000504830.1	37	c.4065	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732197	0.15507	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59638	0.25;0.25	5.4	3.56	0.40772	.	0.239932	0.43416	N	0.000563	T	0.26376	0.0644	N	0.05487	-0.04	0.80722	D	1	B;B	0.25048	0.096;0.117	B;B	0.22601	0.024;0.04	T	0.19095	-1.0316	10	0.02654	T	1	.	4.0046	0.09595	0.169:0.0:0.4784:0.3526	.	1270;1355	P58397-3;P58397	.;ATS12_HUMAN	E	1355;1270	ENSP00000422554:D1355E;ENSP00000344847:D1270E	ENSP00000344847:D1270E	D	-	3	2	ADAMTS12	33596949	0.978000	0.34361	0.999000	0.59377	0.559000	0.35586	0.137000	0.15995	0.604000	0.29930	-0.188000	0.12872	GAC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.567	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	G	NM_030955	-		33561192	-1	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	SNP	0.998	C	C	33561192	G	C	33561192	3	2	167	1	0	0	0	0	1	0	0	0	257	1252	44	4	739	4	ADAMTS12	5	33561192	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	26122	33561192	147354068	28	11799											
LNPEP	4012	genome.wustl.edu	37	chr5	96320886	96320886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatcatcaagatcataagGgatgagcaatacaccgcttt	7	8	3	2	rs573270904		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:96320886G>T	ENST00000231368.5	+	3	1655	c.963G>T	c.(961-963)agG>agT	p.R321S	LNPEP_ENST00000395770.3_Missense_Mutation_p.R307S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	321					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGATCATAAGGGATGAGCAAT	0.373																																																	0								ENSG00000113441						143	138	140					5																	96320886		2203	4300	6503	LNPEP	SO:0001583	missense	0			-	HGNC	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.963G>T	5.37:g.96320886G>T	ENSP00000231368:p.Arg321Ser	Somatic	0	47	0		0.528406935447922	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R321S	ENST00000231368.5	37	c.963	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479636	0.63849	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04275	3.66;3.66	5.34	2.41	0.29592	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.046195	0.85682	D	0.000000	T	0.10121	0.0248	L	0.60904	1.88	0.47547	D	0.999451	P	0.47677	0.899	P	0.52031	0.688	T	0.01972	-1.1237	10	0.87932	D	0	.	7.9692	0.30117	0.4849:0.0:0.5151:0.0	.	321	Q9UIQ6	LCAP_HUMAN	S	321;307	ENSP00000231368:R321S;ENSP00000379117:R307S	ENSP00000231368:R321S	R	+	3	2	LNPEP	96346642	0.999000	0.42202	0.959000	0.39883	0.976000	0.68499	0.714000	0.25808	0.264000	0.21851	-0.152000	0.13540	AGG	-	pfam_Peptidase_M1_N		0.373	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	protein_coding	OTTHUMT00000250624.1	G	NM_005575	-		96320886	1	no_errors	ENST00000231368	ensembl	human	known	74_37	missense	SNP	0.984	T	T	96320886	G	T	96320886	3	4	167	1	0	0	0	0	1	0	0	0	8866	1223	43	3	973	3	LNPEP	5	96320886	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	62759694	96320886	84594374	29	11800											
ARAP3	64411	genome.wustl.edu	37	chr5	141036193	141036193	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagccccacccgtgggctctCacgtcggatacctgggcata	11	16	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:141036193C>A	ENST00000239440.4	-	27	3732	c.3667G>T	c.(3667-3669)Gag>Tag	p.E1223*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.E885*|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.E1054*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1223	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGTGGGCTCTCACGTCGGATA	0.632																																																	0								ENSG00000120318						25	25	25					5																	141036193		2203	4300	6503	ARAP3	SO:0001587	stop_gained	0			-	HGNC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3667G>T	5.37:g.141036193C>A	ENSP00000239440:p.Glu1223*	Somatic	0	51	0		0.528406935447922	67	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	B4DIT1|D3DQE3	Nonsense_Mutation	SNP							pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E1223*	ENST00000239440.4	37	c.3667	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	43	10.145493	0.99346	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	.	.	.	5.64	5.64	0.86602	.	0.101468	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	19.2624	0.93973	0.0:1.0:0.0:0.0	.	.	.	.	X	1054;1223;885	.	ENSP00000239440:E1223X	E	-	1	0	ARAP3	141016377	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	3.340000	0.52143	2.662000	0.90505	0.591000	0.81541	GAG	-	pfscan_Pleckstrin_homology		0.632	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	protein_coding	OTTHUMT00000251805.1	C	NM_022481	-		141036193	-1	no_errors	ENST00000239440	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	141036193	C	A	141036193	4	1	167	1	0	0	0	0	0	1	0	0	840	835	29	3	995	3	ARAP3	5	141036193	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	44715307	141036193	39879067	30	11801											
FAT2	2196	genome.wustl.edu	37	chr5	150946545	150946545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattcaaagttgtgggtgAggcatagtttttgccatctg	11	5	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:150946545A>C	ENST00000261800.5	-	1	1960	c.1948T>G	c.(1948-1950)Tca>Gca	p.S650A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	650	Cadherin 5. {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)			GTTGTGGGTGAGGCATAGTTT	0.418																																																	0								ENSG00000086570						98	97	97					5																	150946545		2203	4300	6503	FAT2	SO:0001583	missense	0			-	HGNC	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.1948T>G	5.37:g.150946545A>C	ENSP00000261800:p.Ser650Ala	Somatic	0	47	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	O75091|Q9NSR7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S650A	ENST00000261800.5	37	c.1948	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218967	0.06101	.	.	ENSG00000086570	ENST00000261800	T	0.42131	0.98	5.78	0.584	0.17422	Cadherin (4);Cadherin-like (1);	0.372511	0.22723	N	0.056432	T	0.23806	0.0576	L	0.44542	1.39	0.09310	N	1	B	0.20671	0.047	B	0.25506	0.061	T	0.14727	-1.0462	10	0.08179	T	0.78	.	0.4991	0.00576	0.4287:0.1344:0.1767:0.2602	.	650	Q9NYQ8	FAT2_HUMAN	A	650	ENSP00000261800:S650A	ENSP00000261800:S650A	S	-	1	0	FAT2	150926738	0.001000	0.12720	0.117000	0.21633	0.993000	0.82548	1.227000	0.32576	0.144000	0.18951	0.533000	0.62120	TCA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.418	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	A	NM_001447	-		150946545	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	SNP	0.000	C	C	150946545	A	C	150946545	3	2	167	1	0	0	0	0	1	0	0	0	5692	304	11	5	11193	5	FAT2	5	150946545	Missense_Mutation	SNP	A	TCGA-JV-A75J-01A-11D-A32I-09	9910352	150946545	29968715	31	11802											
WWC1	23286	genome.wustl.edu	37	chr5	167891760	167891760	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcaagtcgctgcgctcCgagcgtctgatccgtacctc	11	15	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:167891760C>A	ENST00000265293.4	+	21	3445	c.2943C>A	c.(2941-2943)tcC>tcA	p.S981S	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.S987S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	981	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGCTGCGCTCCGAGCGTCTGA	0.607																																																	0								ENSG00000113645						49	49	49					5																	167891760		2203	4300	6503	WWC1	SO:0001819	synonymous_variant	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2943C>A	5.37:g.167891760C>A		Somatic	0	52	0		0.528406935447922	77	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.S981	ENST00000265293.4	37	c.2943	CCDS4366.1	5																																																																																			-	NULL		0.607	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	C	NM_015238	-		167891760	1	no_errors	ENST00000265293	ensembl	human	known	74_37	silent	SNP	0.002	A	A	167891760	C	A	167891760	2	1	167	1	0	0	0	0	0	0	0	1	17418	639	23	3		3	WWC1	5	167891760	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	16945215	167891760	13023500	32	11803											
ZNF354A	6940	genome.wustl.edu	37	chr5	178140027	178140027	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttagatgtttataaagGgatgtactgagagtaaaggc	12	3	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr5:178140027G>T	ENST00000335815.2	-	5	1049	c.852C>A	c.(850-852)tcC>tcA	p.S284S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		GTTTATAAAGGGATGTACTGA	0.378																																																	0								ENSG00000169131						78	81	80					5																	178140027		2203	4300	6503	ZNF354A	SO:0001819	synonymous_variant	0			-	HGNC	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.852C>A	5.37:g.178140027G>T		Somatic	0	65	0		0.528406935447922	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q9UNJ8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S284	ENST00000335815.2	37	c.852	CCDS4438.1	5																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354A	protein_coding	OTTHUMT00000253481.1	G	NM_005649	-		178140027	-1	no_errors	ENST00000335815	ensembl	human	known	74_37	silent	SNP	0.062	T	T	178140027	G	T	178140027	2	4	167	1	0	0	0	0	0	0	0	1	17871	1219	43	3		3	ZNF354A	5	178140027	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	10248267	178140027	2775233	33	11804											
C6orf27	80737	genome.wustl.edu	37	chr6	31734954	31734954	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaactggctgagtcagGgggtagaggccagggtgggg	20	8	1	2	rs373994052		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr6:31734954G>T	ENST00000375688.4	-	13	2063	c.1863C>A	c.(1861-1863)ccC>ccA	p.P621P	VWA7_ENST00000447450.1_Silent_p.P621P|VWA7_ENST00000375686.3_Silent_p.P621P|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	621						extracellular region (GO:0005576)											GCTGAGTCAGGGGGTAGAGGC	0.483																																																	0								ENSG00000204396						25	26	26					6																	31734954		2203	4299	6502	VWA7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1863C>A	6.37:g.31734954G>T		Somatic	0	30	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP							NULL	p.P621	ENST00000375688.4	37	c.1863	CCDS4721.2	6																																																																																			-	NULL		0.483	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	protein_coding	OTTHUMT00000076233.2	G	NM_025258	-		31734954	-1	no_errors	ENST00000375686	ensembl	human	known	74_37	silent	SNP	0.995	T	T	31734954	G	T	31734954	2	4	167	1	0	0	0	0	0	0	0	1	2364	1219	43	3		3	C6orf27	6	31734954	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		31734954	139380113	34	11805											
CAPN11	11131	genome.wustl.edu	37	chr6	44147741	44147741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcttcacgaagtatcAggaccacggcttctcagaga	10	10	4	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr6:44147741A>G	ENST00000398776.1	+	14	1519	c.1481A>G	c.(1480-1482)cAg>cGg	p.Q494R	CAPN11_ENST00000542245.1_Missense_Mutation_p.Q494R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	494	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGAAGTATCAGGACCACGGC	0.507																																																	0								ENSG00000137225						131	130	130					6																	44147741		1987	4172	6159	CAPN11	SO:0001583	missense	0			-	HGNC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1481A>G	6.37:g.44147741A>G	ENSP00000381758:p.Gln494Arg	Somatic	0	38	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Q494R	ENST00000398776.1	37	c.1481	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	A	1.454	-0.564361	0.03939	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.87491	-2.26;-2.26	4.97	-4.08	0.03963	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.501878	0.17032	N	0.189661	T	0.51363	0.1670	N	0.16201	0.385	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.53394	-0.8445	10	0.19590	T	0.45	.	9.1282	0.36828	0.2584:0.5928:0.1488:0.0	.	148;494	B4DT90;Q9UMQ6	.;CAN11_HUMAN	R	494	ENSP00000381758:Q494R;ENSP00000441078:Q494R	ENSP00000381758:Q494R	Q	+	2	0	CAPN11	44255719	0.023000	0.18921	0.034000	0.17996	0.021000	0.10359	0.559000	0.23485	-0.411000	0.07530	0.496000	0.49642	CAG	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.507	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	protein_coding	OTTHUMT00000040714.3	A		-		44147741	1	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	SNP	0.006	G	G	44147741	A	G	44147741	3	3	167	1	0	0	0	0	1	0	0	0	2626	188	7	5	1535	5	CAPN11	6	44147741	Missense_Mutation	SNP	A	TCGA-JV-A75J-01A-11D-A32I-09	12412787	44147741	126967326	35	11806											
DST	667	genome.wustl.edu	37	chr6	56438560	56438560	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagaactttccacatttcCcatccagtccagcatttcat	4	14	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr6:56438560C>A	ENST00000361203.3	-	47	12527	c.12520G>T	c.(12520-12522)Gga>Tga	p.G4174*	DST_ENST00000370788.2_Nonsense_Mutation_p.G2088*|DST_ENST00000370754.5_Nonsense_Mutation_p.G4354*|DST_ENST00000244364.6_Nonsense_Mutation_p.G1762*|DST_ENST00000446842.2_Nonsense_Mutation_p.G3850*|DST_ENST00000312431.6_Nonsense_Mutation_p.G4174*|DST_ENST00000370769.4_Nonsense_Mutation_p.G4176*|DST_ENST00000421834.2_Nonsense_Mutation_p.G2088*			Q03001	DYST_HUMAN	dystonin	4174					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)			TCCACATTTCCCATCCAGTCC	0.393																																																	0								ENSG00000151914						138	140	140					6																	56438560		1933	4137	6070	DST	SO:0001587	stop_gained	0			-	HGNC	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.12520G>T	6.37:g.56438560C>A	ENSP00000354508:p.Gly4174*	Somatic	0	44	0		0.528406935447922	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G4354*	ENST00000361203.3	37	c.13060		6	.	.	.	.	.	.	.	.	.	.	C	53	20.891442	0.99935	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.95	5.95	0.96441	.	0.549745	0.16406	N	0.215810	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	9.4454	0.38695	0.1438:0.785:0.0:0.0712	.	.	.	.	X	1762;4354;4176;2088;3850;4174;2088;4174	.	ENSP00000244364:G1762X	G	-	1	0	DST	56546519	0.998000	0.40836	0.971000	0.41717	0.982000	0.71751	3.643000	0.54374	2.821000	0.97095	0.650000	0.86243	GGA	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	C	NM_001723	-		56438560	-1	no_errors	ENST00000370754	ensembl	human	known	74_37	nonsense	SNP	0.995	A	A	56438560	C	A	56438560	4	1	167	1	0	0	0	0	0	1	0	0	4785	632	22	3	10443	3	DST	6	56438560	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	12290819	56438560	114676507	36	11807											
PREP	5550	genome.wustl.edu	37	chr6	105800914	105800914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttactggatcacatccttcCcttattgataacaagacata	4	10	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr6:105800914C>A	ENST00000369110.3	-	7	948	c.756G>T	c.(754-756)agG>agT	p.R252S		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	252					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CACATCCTTCCCTTATTGATA	0.378																																																	0								ENSG00000085377						160	164	163					6																	105800914		2203	4300	6503	PREP	SO:0001583	missense	0			-	HGNC		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.756G>T	6.37:g.105800914C>A	ENSP00000358106:p.Arg252Ser	Somatic	0	43	0		0.528406935447922	175	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8N6D4	Missense_Mutation	SNP							pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A	p.R252S	ENST00000369110.3	37	c.756	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496204	0.26861	.	.	ENSG00000085377	ENST00000369110	T	0.37584	1.19	5.56	1.58	0.23477	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.084201	0.85682	D	0.000000	T	0.03959	0.0111	N	0.02286	-0.61	0.45250	D	0.998251	B	0.09022	0.002	B	0.06405	0.002	T	0.23404	-1.0189	10	0.14252	T	0.57	-7.5235	5.4531	0.16576	0.0:0.548:0.1424:0.3096	.	252	P48147	PPCE_HUMAN	S	252	ENSP00000358106:R252S	ENSP00000358106:R252S	R	-	3	2	PREP	105907607	0.999000	0.42202	0.998000	0.56505	0.951000	0.60555	0.439000	0.21575	0.820000	0.34516	0.655000	0.94253	AGG	-	pfam_Pept_S9A_N		0.378	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	protein_coding	OTTHUMT00000041658.1	C		-		105800914	-1	no_errors	ENST00000369110	ensembl	human	known	74_37	missense	SNP	0.963	A	A	105800914	C	A	105800914	3	1	167	1	0	0	0	0	1	0	0	0	12479	622	22	3	1412	3	PREP	6	105800914	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	49362354	105800914	65314153	37	11808											
RSPH4A	345895	genome.wustl.edu	37	chr6	116949179	116949179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctattttgtttgcaatgaaCcaggaagaccatgggtgaag	11	6	1	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr6:116949179C>T	ENST00000229554.5	+	3	1446	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P437S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	437					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCAATGAACCAGGAAGACC	0.393									Kartagener syndrome																																								0								ENSG00000111834						79	77	78					6																	116949179		2203	4300	6503	RSPH4A	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1309C>T	6.37:g.116949179C>T	ENSP00000229554:p.Pro437Ser	Somatic	0	74	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	40	52.94	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP							pfam_Radial_spoke	p.P437S	ENST00000229554.5	37	c.1309	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998910	0.74818	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.19105	2.17;2.17	5.74	5.74	0.90152	.	0.099483	0.64402	D	0.000001	T	0.38957	0.1060	M	0.80508	2.5	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.79784	0.993;0.987	T	0.17501	-1.0367	10	0.48119	T	0.1	-12.6035	13.064	0.59022	0.0:0.8386:0.1614:0.0	.	437;437	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	S	437;437;232	ENSP00000357570:P437S;ENSP00000229554:P437S	ENSP00000229554:P437S	P	+	1	0	RSPH4A	117055872	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.709000	0.68384	2.707000	0.92482	0.655000	0.94253	CCA	-	pfam_Radial_spoke		0.393	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	protein_coding	OTTHUMT00000041960.1	C	NM_001010892	-		116949179	1	no_errors	ENST00000229554	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116949179	C	T	116949179	3	4	167	1	0	0	0	0	1	0	0	0	13714	507	18	2	1319	2	RSPH4A	6	116949179	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	11148265	116949179	54165888	38	11809											
ELMO1	9844	genome.wustl.edu	37	chr7	36895294	36895295	+	Frame_Shift_Ins	INS	-	-	G													gggtgtccaggtcattccgcINSgtcaggtcgctcatcatgtc					rs182459066		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr7:36895294_36895295insG	ENST00000310758.4	-	22	2692_2693	c.2045_2046insC	c.(2044-2046)acgfs	p.T682fs	ELMO1_ENST00000341056.3_Frame_Shift_Ins_p.T384fs|ELMO1_ENST00000396045.3_Frame_Shift_Ins_p.T202fs|ELMO1_ENST00000396040.2_Frame_Shift_Ins_p.T202fs|ELMO1_ENST00000442504.1_Frame_Shift_Ins_p.T682fs|ELMO1_ENST00000448602.1_Frame_Shift_Ins_p.T682fs	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	682					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCATTCCGCGTCAGGTCGCT	0.574																																																	0								ENSG00000155849																																			ELMO1	SO:0001589	frameshift_variant	0				HGNC	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2046dupC	7.37:g.36895295_36895295dupG	ENSP00000312185:p.Thr682fs	Somatic	0	37	0		0.528406935447922	78	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Frame_Shift_Ins	INS							pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R683fs	ENST00000310758.4	37	c.2046_2045	CCDS5449.1	7																																																																																			-	NULL		0.574	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	protein_coding	OTTHUMT00000219830.4	-	NM_130442			36895295	-1	no_errors	ENST00000310758	ensembl	human	known	74_37	frame_shift_ins	INS	0.017:0.999	G	G	36895295	-	G	36895294	7	5	167	1	0	1	1	0	0	0	0	0	5067	755	27	0	141	0	ELMO1	7	36895294	Frame_Shift_Ins	INS	-	TCGA-JV-A75J-01A-11D-A32I-09		36895294	122243369	39	11810											
NPC1L1	29881	genome.wustl.edu	37	chr7	44560685	44560685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcacagagcccatcgtgaTgctcatgcagttctttaggc	9	13	3	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr7:44560685T>C	ENST00000289547.4	-	13	3041	c.2986A>G	c.(2986-2988)Atc>Gtc	p.I996V	NPC1L1_ENST00000546276.1_Missense_Mutation_p.I950V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.I996V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	996					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCCATCGTGATGCTCATGCAG	0.567																																																	0								ENSG00000015520						135	132	133					7																	44560685		2203	4300	6503	NPC1L1	SO:0001583	missense	0			-	HGNC		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2986A>G	7.37:g.44560685T>C	ENSP00000289547:p.Ile996Val	Somatic	0	26	0		0.528406935447922	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	22	42.11	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.I996V	ENST00000289547.4	37	c.2986	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	T	7.160	0.585583	0.13749	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93366	-3.1;-3.11;-3.21	4.63	-1.91	0.07641	.	4.895910	0.00757	U	0.001119	D	0.84437	0.5472	N	0.17474	0.49	0.09310	N	1	B;B;B	0.12630	0.002;0.001;0.006	B;B;B	0.14578	0.011;0.002;0.006	T	0.75628	-0.3252	10	0.09590	T	0.72	-2.7223	4.2307	0.10601	0.2795:0.0:0.4035:0.3171	.	950;996;996	B7ZLE6;Q17RV5;D3DVK9	.;.;.	V	996;996;950	ENSP00000289547:I996V;ENSP00000370552:I996V;ENSP00000438033:I950V	ENSP00000289547:I996V	I	-	1	0	NPC1L1	44527210	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-2.678000	0.00839	-0.276000	0.09206	-0.672000	0.03802	ATC	-	NULL		0.567	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	protein_coding	OTTHUMT00000251256.1	T	NM_013389	-		44560685	-1	no_errors	ENST00000289547	ensembl	human	known	74_37	missense	SNP	0.000	C	C	44560685	T	C	44560685	3	2	167	1	0	0	0	0	1	0	0	0	10573	1464	51	5	1125	5	NPC1L1	7	44560685	Missense_Mutation	SNP	T	TCGA-JV-A75J-01A-11D-A32I-09	7665391	44560685	114577978	40	11811											
AKAP9	10142	genome.wustl.edu	37	chr7	91732034	91732034	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttggccctgcttgccCggatgggggggcagccagct	15	15	0	0	rs376311830		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr7:91732034C>A	ENST00000359028.2	+	46	11461	c.11236C>A	c.(11236-11238)Cgg>Agg	p.R3746R	AKAP9_ENST00000356239.3_Silent_p.R3742R|AKAP9_ENST00000358100.2_Silent_p.R3692R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3746					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTGCTTGCCCGGATGGGGGG	0.532			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0								ENSG00000127914						108	115	113					7																	91732034		2203	4300	6503	AKAP9	SO:0001819	synonymous_variant	0			-	HGNC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11236C>A	7.37:g.91732034C>A		Somatic	0	51	0		0.528406935447922	58	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP							pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.R3746	ENST00000359028.2	37	c.11236		7																																																																																			-	pfam_PACT_domain		0.532	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		C	NM_005751	-		91732034	1	no_errors	ENST00000359028	ensembl	human	known	74_37	silent	SNP	1.000	A	A	91732034	C	A	91732034	2	1	167	1	0	0	0	0	0	0	0	1	459	643	23	3		3	AKAP9	7	91732034	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	47171349	91732034	67406629	41	11812											
SAMD9L	219285	genome.wustl.edu	37	chr7	92762287	92762287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtgatagcttctttccaGttcttttagacagtacaggg	9	8	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr7:92762287G>T	ENST00000318238.4	-	5	4214	c.2998C>A	c.(2998-3000)Ctg>Atg	p.L1000M	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1000M|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1000M	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1000					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTTTCCAGTTCTTTTAGA	0.338																																																	0								ENSG00000177409						70	70	70					7																	92762287		2202	4299	6501	SAMD9L	SO:0001583	missense	0			-	HGNC	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2998C>A	7.37:g.92762287G>T	ENSP00000326247:p.Leu1000Met	Somatic	0	31	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP							superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.L1000M	ENST00000318238.4	37	c.2998	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511417	0.27036	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.44482	0.92;0.92;0.92	5.22	2.24	0.28232	.	0.094004	0.43416	D	0.000577	T	0.55321	0.1913	M	0.69823	2.125	0.28166	N	0.928796	D	0.89917	1.0	D	0.70935	0.971	T	0.47129	-0.9141	10	0.72032	D	0.01	-4.9835	5.3298	0.15926	0.5056:0.0:0.4944:0.0	.	1000	Q8IVG5	SAM9L_HUMAN	M	1000	ENSP00000326247:L1000M;ENSP00000405760:L1000M;ENSP00000408796:L1000M	ENSP00000326247:L1000M	L	-	1	2	SAMD9L	92600223	0.011000	0.17503	0.998000	0.56505	0.116000	0.19942	0.051000	0.14141	0.784000	0.33661	0.467000	0.42956	CTG	-	NULL		0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	protein_coding	OTTHUMT00000341730.1	G	NM_152703	-		92762287	-1	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	SNP	0.997	T	T	92762287	G	T	92762287	3	4	167	1	0	0	0	0	1	0	0	0	13835	1020	36	3	1760	3	SAMD9L	7	92762287	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	1030253	92762287	66376376	42	11813											
ZAN	7455	genome.wustl.edu	37	chr7	100382410	100382410	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaagacaagtgtgtccCcagaagtcagtgtggctgca	14	8	1	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr7:100382410C>A	ENST00000348028.3	+	0	6952				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAGTGTGTCCCCAGAAGTCAG	0.602																																																	0								ENSG00000146839						61	61	61					7																	100382410		2151	4278	6429	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100382410C>A		Somatic	0	38	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P2262H	ENST00000348028.3	37	c.6785		7	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576502	0.65878	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.24	3.28	0.37604	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.812582	0.10097	N	0.716474	D	0.93946	0.8062	.	.	.	0.25831	N	0.984169	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.948;0.948;0.969	D	0.84290	0.0499	9	0.31617	T	0.26	.	7.0239	0.24930	0.0:0.8507:0.0:0.1493	.	736;2262;2263	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	H	2262;2262;2262;736	ENSP00000445943:P2262H;ENSP00000445091:P2262H;ENSP00000444427:P2262H;ENSP00000441117:P736H	ENSP00000445091:P2262H	P	+	2	0	ZAN	100220346	0.000000	0.05858	0.998000	0.56505	0.979000	0.70002	0.532000	0.23067	1.022000	0.39626	0.591000	0.81541	CCC	-	pfam_TIL_dom,superfamily_TIL_dom		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386	-		100382410	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100382410	C	A	100382410	1	1	167	0	1	0	0	0	0	0	0	0	17520	623	22	3		3	ZAN	7	100382410	RNA	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	7620123	100382410	58756253	43	11814											
SGK223	157285	genome.wustl.edu	37	chr8	8176387	8176388	+	In_Frame_Ins	INS	-	-	GGGGCG													cggcggcgggggcgggagccINSggggcgggggcgggcccggg					rs143409664|rs369009941|rs71217287		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr8:8176387_8176388insGGGGCG	ENST00000520004.1	-	6	3761_3762	c.3497_3498insCGCCCC	c.(3496-3498)ccg>ccCGCCCCg	p.1166_1166P>PAP	SGK223_ENST00000330777.4_In_Frame_Ins_p.1166_1166P>PAP			Q86YV5	SG223_HUMAN		1170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										gggcgggagccggggcgggggc	0.782																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319			1183,1443		406,371,536						-9.8	0		dbSNP_134	4	2724,3170		936,852,1159	no	coding	SGK223	NM_001080826.1		1342,1223,1695	A1A1,A1R,RR		46.2165,45.0495,45.8568				3907,4613				SGK223	SO:0001652	inframe_insertion	0				Uniprot_gn																												ENST00000520004.1:c.3492_3497dupCGCCCC	8.37:g.8176388_8176393dupGGGGCG	ENSP00000428054:p.AlaPro1170dup	Somatic					0.528406935447922	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8N3N5	In_Frame_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.1170in_frame_insPA	ENST00000520004.1	37	c.3498_3497	CCDS43706.1	8																																																																																			-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.782	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	-				8176388	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.034	GGGGCG	GGGGCG	8176388	-	GGGGCG	8176387	7	5	167	1	0	1	1	0	0	0	0	0	14218	639	23	0	714	0	SGK223	8	8176387	In_Frame_Ins	INS	-	TCGA-JV-A75J-01A-11D-A32I-09		8176387	138187635	44	11815											
NEFL	4747	genome.wustl.edu	37	chr8	24810424	24810426	+	RNA	DEL	CTT	CTT	-													tccttcttcaccttcacctcCttcttcttcttcttttgctt					rs570816238		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr8:24810424_24810426delCTT	ENST00000221169.5	-	0	2124_2126							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ccttcacctccttcttcttcttc	0.414																																																	0								ENSG00000104725																																			NEFL			0				HGNC		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24810433_24810435delCTT		Somatic	0	30	0		0.528406935447922	108	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	B9ZVN2|Q16154|Q8IU72	RNA	DEL							-	NULL	ENST00000221169.5	37	NULL		8																																																																																			-	-		0.414	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	processed_transcript	OTTHUMT00000258943.4	CTT	NM_006158			24810426	-1	no_errors	ENST00000221169	ensembl	human	known	74_37	rna	DEL	1.000:1.000:1.000	-	-	24810426	CTT	-	24810424	6	5	167	0	1	1	0	1	0	0	0	0	10317	690	24	0		0	NEFL	8	24810424	RNA	DEL	CTT	TCGA-JV-A75J-01A-11D-A32I-09	16634037	24810424	121553598	45	11816											
SNAI2	6591	genome.wustl.edu	37	chr8	49832765	49832765	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctcttcatcactaatGgggctttctgagccactgtg	8	12	4	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr8:49832765G>T	ENST00000396822.1	-	3	672	c.315C>A	c.(313-315)ccC>ccA	p.P105P	SNAI2_ENST00000020945.1_Silent_p.P105P			O43623	SNAI2_HUMAN	snail family zinc finger 2	105					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CATCACTAATGGGGCTTTCTG	0.493																																																	0								ENSG00000019549						142	137	138					8																	49832765		2203	4300	6503	SNAI2	SO:0001819	synonymous_variant	0			-	HGNC	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.315C>A	8.37:g.49832765G>T		Somatic	0	39	0		0.528406935447922	171	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R6P6|Q53FC1	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P105	ENST00000396822.1	37	c.315	CCDS6146.1	8																																																																																			-	NULL		0.493	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	protein_coding	OTTHUMT00000313873.2	G	NM_003068	-		49832765	-1	no_errors	ENST00000020945	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49832765	G	T	49832765	2	4	167	1	0	0	0	0	0	0	0	1	14835	1335	47	3		3	SNAI2	8	49832765	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	25022341	49832765	96531257	46	11817											
RASEF	158158	genome.wustl.edu	37	chr9	85630776	85630776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttcagtttcatactgacGtctgaggtcactgagggctt	10	9	4	3	rs148666621	byFrequency	TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr9:85630776G>T	ENST00000376447.3	-	4	969	c.709C>A	c.(709-711)Cgt>Agt	p.R237S		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	237					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCATACTGACGTCTGAGGTCA	0.413																																																	0								ENSG00000165105						260	242	248					9																	85630776		2203	4300	6503	RASEF	SO:0001583	missense	0			-	HGNC	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.709C>A	9.37:g.85630776G>T	ENSP00000365630:p.Arg237Ser	Somatic	0	36	0		0.528406935447922	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A6NC29|Q96N04	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.R237S	ENST00000376447.3	37	c.709	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752998	0.89753	.	.	ENSG00000165105	ENST00000376447	T	0.61510	0.1	6.16	5.27	0.74061	.	0.052049	0.85682	D	0.000000	T	0.70894	0.3276	M	0.69823	2.125	0.80722	D	1	D	0.60575	0.988	P	0.56788	0.806	T	0.74853	-0.3523	10	0.62326	D	0.03	.	15.7724	0.78180	0.065:0.0:0.935:0.0	.	237	Q8IZ41	RASEF_HUMAN	S	237	ENSP00000365630:R237S	ENSP00000365630:R237S	R	-	1	0	RASEF	84820596	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.098000	0.41757	1.623000	0.50342	0.650000	0.86243	CGT	-	superfamily_Vinculin/catenin		0.413	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	protein_coding	OTTHUMT00000052825.1	G	NM_152573	-		85630776	-1	no_errors	ENST00000376447	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85630776	G	T	85630776	3	4	167	1	0	0	0	0	1	0	0	0	13076	1145	40	3	1569	3	RASEF	9	85630776	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		85630776	55582655	47	11818											
PAPPA	5069	genome.wustl.edu	37	chr9	118950454	118950454	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgaccctgaaatcacCaatgtcactcagacttgctt	7	12	3	3	rs556662763		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr9:118950454C>A	ENST00000328252.3	+	2	1806	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	479	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGAAATCACCAATGTCACTC	0.488																																																	0								ENSG00000182752						96	72	80					9																	118950454		2203	4300	6503	PAPPA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1437C>A	9.37:g.118950454C>A		Somatic	0	23	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.T479	ENST00000328252.3	37	c.1437	CCDS6813.1	9																																																																																			-	NULL		0.488	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	C	NM_002581	-		118950454	1	no_errors	ENST00000328252	ensembl	human	known	74_37	silent	SNP	0.007	A	A	118950454	C	A	118950454	2	1	167	1	0	0	0	0	0	0	0	1	11434	581	21	3		3	PAPPA	9	118950454	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	33319678	118950454	22262977	48	11819											
CACNA1B	774	genome.wustl.edu	37	chr9	141010020	141010020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgggtcctgtgtcccTgttccaccctctgaaggcca	11	14	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr9:141010020T>C	ENST00000371372.1	+	42	5811	c.5666T>C	c.(5665-5667)cTg>cCg	p.L1889P	CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1888P|CACNA1B_ENST00000277549.5_Missense_Mutation_p.L1083P|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1890P|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1889P|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1887P	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1889					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)	CCTGTGTCCCTGTTCCACCCT	0.592																																																	0								ENSG00000148408						144	143	144					9																	141010020		2010	4171	6181	CACNA1B	SO:0001583	missense	0			-	HGNC	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.5666T>C	9.37:g.141010020T>C	ENSP00000360423:p.Leu1889Pro	Somatic	0	47	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B1AQK5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.L1890P	ENST00000371372.1	37	c.5669	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050451	0.55218	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97553	-4.16;-4.17;-4.43;-4.19;-4.17;-4.15	4.73	4.73	0.59995	.	5.340800	0.02364	U	0.077180	D	0.96169	0.8751	L	0.60455	1.87	0.80722	D	1	B;B	0.28998	0.028;0.23	B;B	0.24006	0.032;0.05	T	0.79505	-0.1776	10	0.30078	T	0.28	.	14.6773	0.68989	0.0:0.0:0.0:1.0	.	1888;1887	B1AQK7;B1AQK6	.;.	P	1889;1889;1083;1887;1888;1890	ENSP00000360423:L1889P;ENSP00000277551:L1889P;ENSP00000277549:L1083P;ENSP00000360414:L1887P;ENSP00000360408:L1888P;ENSP00000360406:L1890P	ENSP00000277549:L1083P	L	+	2	0	CACNA1B	140129841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.927000	0.63440	2.101000	0.63845	0.533000	0.62120	CTG	-	NULL		0.592	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	T	NM_000718	-		141010020	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141010020	T	C	141010020	3	2	167	1	0	0	0	0	1	0	0	0	2541	1580	55	5	5828	5	CACNA1B	9	141010020	Missense_Mutation	SNP	T	TCGA-JV-A75J-01A-11D-A32I-09	22059566	141010020	203411	49	11820											
UPF2	26019	genome.wustl.edu	37	chr10	12070987	12070987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctacagagacatgagtgtggGactcccgatcagcattaata	10	9	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr10:12070987G>T	ENST00000356352.2	-	2	1375	c.902C>A	c.(901-903)tCc>tAc	p.S301Y	UPF2_ENST00000357604.5_Missense_Mutation_p.S301Y|UPF2_ENST00000397053.2_Missense_Mutation_p.S301Y			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	301	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATGAGTGTGGGACTCCCGATC	0.378																																																	0								ENSG00000151461						82	79	80					10																	12070987		2203	4300	6503	UPF2	SO:0001583	missense	0			-	HGNC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.902C>A	10.37:g.12070987G>T	ENSP00000348708:p.Ser301Tyr	Somatic	0	43	0		0.528406935447922	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.S301Y	ENST00000356352.2	37	c.902	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147489	0.57151	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.25085	1.82;1.82;1.82	6.17	6.17	0.99709	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.057690	0.64402	D	0.000001	T	0.31796	0.0808	N	0.24115	0.695	0.58432	D	0.999999	D;P	0.54207	0.965;0.954	P;P	0.51135	0.66;0.478	T	0.01561	-1.1324	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	271;301	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	Y	301;301;271;301;271	ENSP00000348708:S301Y;ENSP00000350221:S301Y;ENSP00000380244:S301Y	ENSP00000313617:S271Y	S	-	2	0	UPF2	12110993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.945000	0.87732	2.941000	0.99782	0.655000	0.94253	TCC	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	protein_coding	OTTHUMT00000046783.1	G		-		12070987	-1	no_errors	ENST00000356352	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12070987	G	T	12070987	3	4	167	1	0	0	0	0	1	0	0	0	17011	1174	41	3	2996	3	UPF2	10	12070987	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		12070987	123463760	50	11821											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14951075	14951075	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtacagagcccagatctcCttgcagtgaagctgggattc	11	10	1	3	rs368636876		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr10:14951075C>A	ENST00000378278.2	-	14	1448	c.1411G>T	c.(1411-1413)Gga>Tga	p.G471*	DCLRE1C_ENST00000378249.1_Nonsense_Mutation_p.G356*|DCLRE1C_ENST00000357717.2_Nonsense_Mutation_p.G356*|DCLRE1C_ENST00000453695.2_Nonsense_Mutation_p.G351*|DCLRE1C_ENST00000378255.1_Nonsense_Mutation_p.G351*|DCLRE1C_ENST00000378242.1_Nonsense_Mutation_p.G124*|DCLRE1C_ENST00000378258.1_Nonsense_Mutation_p.G351*|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Nonsense_Mutation_p.G351*|DCLRE1C_ENST00000378246.2_Nonsense_Mutation_p.G356*|DCLRE1C_ENST00000378254.1_Nonsense_Mutation_p.G351*			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	471					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCCAGATCTCCTTGCAGTGAA	0.428								Non-homologous end-joining																																									0								ENSG00000152457						103	91	95					10																	14951075		2203	4300	6503	DCLRE1C	SO:0001587	stop_gained	0			-	HGNC	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1411G>T	10.37:g.14951075C>A	ENSP00000367527:p.Gly471*	Somatic	0	32	0		0.528406935447922	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Nonsense_Mutation	SNP							pfam_DRMBL	p.G471*	ENST00000378278.2	37	c.1411	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.640485	0.98406	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	.	.	.	5.54	2.68	0.31781	.	0.860169	0.10922	N	0.619341	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.2886	0.43581	0.0:0.6735:0.0:0.3265	.	.	.	.	X	351;356;356;356;351;351;351;471;351;124	.	ENSP00000350349:G356X	G	-	1	0	DCLRE1C	14991081	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	0.308000	0.19314	0.701000	0.31803	0.655000	0.94253	GGA	-	NULL		0.428	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	protein_coding	OTTHUMT00000046934.1	C	NM_022487	-		14951075	-1	no_errors	ENST00000378278	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	14951075	C	A	14951075	4	1	167	1	0	0	0	0	0	1	0	0	4298	690	24	3	671	3	DCLRE1C	10	14951075	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	2880088	14951075	120583672	51	11822											
SVIL	6840	genome.wustl.edu	37	chr10	29777607	29777607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttccgtcaggttgacgctcCgcaggctgacgttgctgaag	14	11	1	3	rs146000151		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr10:29777607C>A	ENST00000355867.4	-	23	5023	c.4271G>T	c.(4270-4272)cGg>cTg	p.R1424L	SVIL_ENST00000538146.1_Missense_Mutation_p.R216L|SVIL_ENST00000375400.3_Missense_Mutation_p.R998L|SVIL_ENST00000535393.1_Missense_Mutation_p.R338L|SVIL_ENST00000375398.2_Missense_Mutation_p.R1424L|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1424	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTTGACGCTCCGCAGGCTGAC	0.512																																																	0								ENSG00000197321						66	53	58					10																	29777607		2203	4298	6501	SVIL	SO:0001583	missense	0			-	HGNC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4271G>T	10.37:g.29777607C>A	ENSP00000348128:p.Arg1424Leu	Somatic	0	51	0		0.528406935447922	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.R1424L	ENST00000355867.4	37	c.4271	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.370963	0.95923	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86297	2.27;2.22;2.22;2.27;-2.1	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.93229	0.7843	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.79784	0.985;0.993;0.99;0.983	D	0.93897	0.7185	10	0.87932	D	0	-25.111	18.3624	0.90379	0.0:1.0:0.0:0.0	.	338;216;998;1424	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	998;1424;1424;338;378;216	ENSP00000364549:R998L;ENSP00000364547:R1424L;ENSP00000348128:R1424L;ENSP00000445472:R338L;ENSP00000440343:R216L	ENSP00000348128:R1424L	R	-	2	0	SVIL	29817613	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.556000	0.82233	2.577000	0.86979	0.485000	0.47835	CGG	-	NULL		0.512	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	protein_coding	OTTHUMT00000047395.1	C		-		29777607	-1	no_errors	ENST00000355867	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29777607	C	A	29777607	3	1	167	1	0	0	0	0	1	0	0	0	15428	652	23	3	2437	3	SVIL	10	29777607	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	14826532	29777607	105757140	52	11823											
TM9SF3	56889	genome.wustl.edu	37	chr10	98303896	98303896	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaaattgatgaagaaGgcagtgccacacaccatagc	10	9	0	4			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr10:98303896G>T	ENST00000371142.4	-	9	1338	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	374						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGATGAAGAAGGCAGTGCCAC	0.368																																																	0								ENSG00000077147						104	92	96					10																	98303896		2203	4300	6503	TM9SF3	SO:0001819	synonymous_variant	0			-	HGNC	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1122C>A	10.37:g.98303896G>T		Somatic	0	62	0		0.528406935447922	86	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP							pfam_EMP70	p.A374	ENST00000371142.4	37	c.1122	CCDS7450.1	10																																																																																			-	pfam_EMP70		0.368	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF3	protein_coding	OTTHUMT00000049610.2	G	NM_020123	-		98303896	-1	no_errors	ENST00000371142	ensembl	human	known	74_37	silent	SNP	0.999	T	T	98303896	G	T	98303896	2	4	167	1	0	0	0	0	0	0	0	1	15986	987	35	3		3	TM9SF3	10	98303896	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	68526289	98303896	37230851	53	11824											
C10orf28	27291	genome.wustl.edu	37	chr10	99967894	99967894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaagaatcagagagatGcagagttagagccagaaggc	14	7	1	6			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr10:99967894G>A	ENST00000298999.3	+	5	326	c.23G>A	c.(22-24)tGc>tAc	p.C8Y	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.C8Y|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	8	EJC-binding motif; may mediate interaction with the EJC.						nucleotide binding (GO:0000166)										TCAGAGAGATGCAGAGTTAGA	0.408																																																	0								ENSG00000166024						37	34	35					10																	99967894		2203	4300	6503	R3HCC1L	SO:0001583	missense	0			-	HGNC	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.23G>A	10.37:g.99967894G>A	ENSP00000298999:p.Cys8Tyr	Somatic	0	45	0		0.528406935447922	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP							NULL	p.C8Y	ENST00000298999.3	37	c.23	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175218	0.57692	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.09350	2.99;2.99	6.11	4.25	0.50352	.	0.182539	0.39759	N	0.001269	T	0.27349	0.0671	M	0.71581	2.175	0.80722	D	1	D;D	0.63880	0.986;0.993	P;D	0.63113	0.858;0.911	T	0.01018	-1.1479	10	0.87932	D	0	-1.1385	10.2404	0.43308	0.0:0.1471:0.6998:0.1531	.	8;8	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	Y	8	ENSP00000359616:C8Y;ENSP00000298999:C8Y	ENSP00000298999:C8Y	C	+	2	0	C10orf28	99957884	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.814000	0.55643	0.901000	0.36495	-0.169000	0.13324	TGC	-	NULL		0.408	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	protein_coding	OTTHUMT00000049764.1	G	NM_014472	-		99967894	1	no_errors	ENST00000370584	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99967894	G	A	99967894	3	1	167	1	0	0	0	0	1	0	0	0	1603	1319	46	2	25	2	C10orf28	10	99967894	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	1663998	99967894	35566853	54	11825											
C10orf28	27291	genome.wustl.edu	37	chr10	99967999	99967999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagaaagctgtggttcacCtaactctgtggtgaaagaaa	11	6	2	4			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr10:99967999C>A	ENST00000298999.3	+	5	431	c.128C>A	c.(127-129)cCt>cAt	p.P43H	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P43H|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	43							nucleotide binding (GO:0000166)										TGTGGTTCACCTAACTCTGTG	0.428																																																	0								ENSG00000166024						65	69	68					10																	99967999		2203	4300	6503	R3HCC1L	SO:0001583	missense	0			-	HGNC	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.128C>A	10.37:g.99967999C>A	ENSP00000298999:p.Pro43His	Somatic	0	59	0		0.528406935447922	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP							NULL	p.P43H	ENST00000298999.3	37	c.128	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	C	8.822	0.937876	0.18206	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.08807	3.05;3.05	5.95	2.65	0.31530	.	0.550299	0.17834	N	0.160432	T	0.18341	0.0440	L	0.59436	1.845	0.09310	N	0.999998	D;D	0.76494	0.998;0.999	P;D	0.65874	0.891;0.939	T	0.03453	-1.1035	9	.	.	.	-0.2067	5.928	0.19122	0.1577:0.663:0.0:0.1793	.	43;43	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	H	43	ENSP00000359616:P43H;ENSP00000298999:P43H	.	P	+	2	0	C10orf28	99957989	0.000000	0.05858	0.007000	0.13788	0.076000	0.17211	0.382000	0.20635	0.853000	0.35312	0.650000	0.86243	CCT	-	NULL		0.428	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	protein_coding	OTTHUMT00000049764.1	C	NM_014472	-		99967999	1	no_errors	ENST00000370584	ensembl	human	known	74_37	missense	SNP	0.000	A	A	99967999	C	A	99967999	3	1	167	1	0	0	0	0	1	0	0	0	1603	681	24	3	130	3	C10orf28	10	99967999	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	105	99967999	35566748	55	11826											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651210	1651239	+	In_Frame_Del	DEL	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	-													cggctgtggaggctgtggggGctgtggctccggctgtgcgg					rs190828070|rs553119014|rs71454096|rs117674201|rs369130959	byFrequency	TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:1651210_1651239delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	ENST00000399676.2	+	1	178_207	c.140_169delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	c.(139-171)ggctgtggctccggctgtgcgggctgtggggga>gga	p.47_57GCGSGCAGCGG>G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47				A -> G (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.A53A(1)|p.G54V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggctgtgggggctgtggctccggctgtgcgggctgtgggggatgtggctc	0.691																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)						ENSG00000185940																																			KRTAP5-5	SO:0001651	inframe_deletion	0				HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.140_169delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	11.37:g.1651210_1651239delGCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	ENSP00000382584:p.Gly47_Gly56del	Somatic					0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MWN2	In_Frame_Del	DEL							NULL	p.GCAGCGGCGS51in_frame_del	ENST00000399676.2	37	c.140_169	CCDS41592.1	11																																																																																			-	NULL		0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG				1651239	1	no_errors	ENST00000399676	ensembl	human	known	74_37	in_frame_del	DEL	0.818:0.967:0.993:0.997:0.997:0.999:1.000:0.998:0.998:0.991:0.983:0.976:1.000:1.000:0.999:0.995:0.061:0.083:0.113:0.325:0.996:0.999:1.000:1.000:0.999:0.994:0.996:0.995:0.546:0.579	-	-	1651239	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	-	1651210	7	5	167	1	0	1	0	1	0	0	0	0	8566	1203	42	0	142	0	KRTAP5-5	11	1651210	In_Frame_Del	DEL	GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG	TCGA-JV-A75J-01A-11D-A32I-09		1651210	133355306	56	11827											
MPPED2	744	genome.wustl.edu	37	chr11	30410479	30410479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacatatttttgtcctcagtGccttggagatgctcacaggg	10	9	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:30410479G>T	ENST00000448418.2	-	7	1151	c.791C>A	c.(790-792)gCa>gAa	p.A264E		NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	0					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						tgtcctcagtgcctTGGAGAT	0.403																																																	0								ENSG00000066382						107	87	93					11																	30410479		1565	3577	5142	MPPED2	SO:0001583	missense	0			-	HGNC	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000448418.2:c.791C>A	11.37:g.30410479G>T	ENSP00000388258:p.Ala264Glu	Somatic	0	37	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP							pfam_PEstase_dom	p.A264E	ENST00000448418.2	37	c.791	CCDS44560.1	11	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023595	0.19433	.	.	ENSG00000066382	ENST00000448418	T	0.46063	0.88	3.15	-6.05	0.02172	.	.	.	.	.	T	0.19127	0.0459	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15780	-1.0425	9	0.35671	T	0.21	.	1.1571	0.01798	0.1886:0.15:0.3641:0.2973	.	264	E9PB10	.	E	264	ENSP00000388258:A264E	ENSP00000388258:A264E	A	-	2	0	MPPED2	30367055	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.878000	0.04192	-1.389000	0.02090	0.655000	0.94253	GCA	-	NULL		0.403	MPPED2-001	KNOWN	basic|CCDS	protein_coding	MPPED2	protein_coding	OTTHUMT00000388154.1	G	NM_001584	-		30410479	-1	no_errors	ENST00000448418	ensembl	human	known	74_37	missense	SNP	0.000	T	T	30410479	G	T	30410479	3	4	167	1	0	0	0	0	1	0	0	0	9744	1319	46	3	46	3	MPPED2	11	30410479	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	28759269	30410479	104596037	57	11828											
PTPRJ	5795	genome.wustl.edu	37	chr11	48142787	48142787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaataggcaatgagacttgGggagatcccagagtcataaa	13	6	1	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:48142787G>T	ENST00000418331.2	+	4	937	c.585G>T	c.(583-585)tgG>tgT	p.W195C	PTPRJ_ENST00000440289.2_Missense_Mutation_p.W195C	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	195	Fibronectin type-III 1. {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						ATGAGACTTGGGGAGATCCCA	0.448																																																	0								ENSG00000149177						106	101	103					11																	48142787		2201	4298	6499	PTPRJ	SO:0001583	missense	0			-	HGNC	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.585G>T	11.37:g.48142787G>T	ENSP00000400010:p.Trp195Cys	Somatic	0	37	0		0.528406935447922	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.W195C	ENST00000418331.2	37	c.585	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229380	0.39399	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000534219	T;T;T	0.81163	0.57;0.57;-1.46	5.41	0.0324	0.14175	Fibronectin, type III (3);	.	.	.	.	T	0.79009	0.4374	L	0.36672	1.1	0.09310	N	0.999999	D;D	0.64830	0.967;0.994	P;D	0.63033	0.814;0.91	T	0.65315	-0.6198	9	0.48119	T	0.1	.	3.0956	0.06308	0.2771:0.0:0.4046:0.3183	.	195;195	Q12913;Q6P4H4	PTPRJ_HUMAN;.	C	195;195;195;116	ENSP00000400010:W195C;ENSP00000409733:W195C;ENSP00000432686:W116C	ENSP00000278456:W195C	W	+	3	0	PTPRJ	48099363	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.446000	0.06837	-0.027000	0.13873	0.591000	0.81541	TGG	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	G		-		48142787	1	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	SNP	0.001	T	T	48142787	G	T	48142787	3	4	167	1	0	0	0	0	1	0	0	0	12812	1241	43	3	599	3	PTPRJ	11	48142787	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	17732308	48142787	86863729	58	11829											
OR5B12	390191	genome.wustl.edu	37	chr11	58206903	58206903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaaactgcagtaaggtggGaagcacaagtagaaaaggcc	14	6	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:58206903G>T	ENST00000302572.2	-	1	743	c.722C>A	c.(721-723)tCc>tAc	p.S241Y		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAAGGTGGGAAGCACAAGT	0.428																																																	0								ENSG00000172362						78	76	77					11																	58206903		2201	4295	6496	OR5B12	SO:0001583	missense	0			-	HGNC	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.722C>A	11.37:g.58206903G>T	ENSP00000306657:p.Ser241Tyr	Somatic	0	50	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2RNL2|Q6IEV5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S241Y	ENST00000302572.2	37	c.722	CCDS31551.1	11	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601540	0.66445	.	.	ENSG00000172362	ENST00000302572	T	0.39406	1.08	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.77691	0.4168	H	0.98629	4.285	0.40428	D	0.979919	D	0.76494	0.999	D	0.73380	0.98	D	0.87693	0.2555	10	0.87932	D	0	5.1583	16.2624	0.82553	0.0:0.0:1.0:0.0	.	241	Q96R08	OR5BC_HUMAN	Y	241	ENSP00000306657:S241Y	ENSP00000306657:S241Y	S	-	2	0	OR5B12	57963479	0.980000	0.34600	1.000000	0.80357	0.639000	0.38242	4.483000	0.60264	2.383000	0.81215	0.462000	0.41574	TCC	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.428	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B12	protein_coding	OTTHUMT00000394987.1	G	NM_001004733	-		58206903	-1	no_errors	ENST00000302572	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58206903	G	T	58206903	3	4	167	1	0	0	0	0	1	0	0	0	11150	1174	41	3	226	3	OR5B12	11	58206903	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	10064116	58206903	76799613	59	11830											
TUT1	64852	genome.wustl.edu	37	chr11	62348654	62348654	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcgaagctatttatggaaGagccaaaagggtggaccaca	11	8	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:62348654G>T	ENST00000476907.1	-	4	1305	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	TUT1_ENST00000308436.7_Missense_Mutation_p.S243Y|MIR3654_ENST00000496634.2_Missense_Mutation_p.S205Y			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	205					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATTTATGGAAGAGCCAAAAGG	0.527																																																	0								ENSG00000149016						107	99	102					11																	62348654		2202	4299	6501	TUT1	SO:0001583	missense	0			-	HGNC	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"RNA binding motif (RRM) containing"	26184	protein-coding gene	gene with protein product	"RNA uridylyltransferase", "U6 TUTase", "TUTase 6"	610641	"RNA binding motif protein 21"	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.614C>A	11.37:g.62348654G>T	ENSP00000419607:p.Ser205Tyr	Somatic	0	23	0		0.528406935447922	128	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP							pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S243Y	ENST00000476907.1	37	c.728		11	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763314	0.69763	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	D;D;D	0.85955	-2.05;-2.05;-2.05	5.5	5.5	0.81552	.	0.110306	0.64402	D	0.000005	D	0.92609	0.7652	M	0.81614	2.55	0.42729	D	0.993702	D	0.89917	1.0	D	0.91635	0.999	D	0.93508	0.6850	10	0.87932	D	0	-16.7575	16.9396	0.86213	0.0:0.0:1.0:0.0	.	243	F5H0R1	.	Y	243;205;119	ENSP00000308000:S243Y;ENSP00000419607:S205Y;ENSP00000420739:S119Y	ENSP00000441670:S205Y	S	-	2	0	TUT1	62105230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.978000	0.93450	2.576000	0.86940	0.555000	0.69702	TCT	-	NULL		0.527	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	protein_coding	OTTHUMT00000351319.2	G	NM_022830	-		62348654	-1	no_errors	ENST00000308436	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62348654	G	T	62348654	3	4	167	1	0	0	0	0	1	0	0	0	16787	942	33	3	2034	3	TUT1	11	62348654	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	4141751	62348654	72657862	60	11831											
MYEOV	26579	genome.wustl.edu	37	chr11	69062890	69062890	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctgcactcgctgttgcctCtgcctggaacagtctccctc	8	17	3	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:69062890C>A	ENST00000308946.3	+	2	519	c.69C>A	c.(67-69)ctC>ctA	p.L23L	MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Silent_p.L23L	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	23										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)		gctgttgcctctgcctggaac	0.592																																																	0								ENSG00000172927						229	159	183					11																	69062890		2200	4294	6494	MYEOV	SO:0001819	synonymous_variant	0			-	HGNC	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.69C>A	11.37:g.69062890C>A		Somatic	0	34	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q9UGN6|Q9UGN7	Silent	SNP							NULL	p.L23	ENST00000308946.3	37	c.69	CCDS8190.1	11																																																																																			-	NULL		0.592	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	protein_coding	OTTHUMT00000396548.1	C		-		69062890	1	no_errors	ENST00000308946	ensembl	human	known	74_37	silent	SNP	0.004	A	A	69062890	C	A	69062890	2	1	167	1	0	0	0	0	0	0	0	1	10027	900	32	3		3	MYEOV	11	69062890	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	6714236	69062890	65943626	61	11832											
KCTD14	65987	genome.wustl.edu	37	chr11	77727734	77727734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggagaataccttgtaccCctgggccttaatgtccatct	8	12	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:77727734C>A	ENST00000353172.5	-	2	717	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	RP11-7I15.3_ENST00000533697.1_RNA|KCTD14_ENST00000533144.1_Missense_Mutation_p.G195W	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	225					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			ACCTTGTACCCCTGGGCCTTA	0.473																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												0								ENSG00000151364						156	139	145					11																	77727734		2200	4292	6492	KCTD14	SO:0001583	missense	0			-	HGNC	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.673G>T	11.37:g.77727734C>A	ENSP00000316482:p.Gly225Trp	Somatic	0	25	0		0.528406935447922	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B2R9R8	Missense_Mutation	SNP							pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.G225W	ENST00000353172.5	37	c.673	CCDS8255.2	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194276	0.78902	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.73047	-0.71;-0.61	4.49	4.49	0.54785	.	1.191180	0.06106	N	0.666204	D	0.86814	0.6023	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79748	-0.1673	10	0.87932	D	0	.	16.3772	0.83410	0.0:1.0:0.0:0.0	.	225	Q9BQ13	KCD14_HUMAN	W	225;195	ENSP00000316482:G225W;ENSP00000431155:G195W	ENSP00000316482:G225W	G	-	1	0	KCTD14	77405382	1.000000	0.71417	0.991000	0.47740	0.843000	0.47879	6.978000	0.76147	2.344000	0.79699	0.650000	0.86243	GGG	-	NULL		0.473	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	protein_coding	OTTHUMT00000316888.1	C	NM_023930	-		77727734	-1	no_errors	ENST00000353172	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77727734	C	A	77727734	3	1	167	1	0	0	0	0	1	0	0	0	8103	623	22	3	98	3	KCTD14	11	77727734	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	8664844	77727734	57278782	62	11833											
APOA4	337	genome.wustl.edu	37	chr11	116691796	116691796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgggggcccagtttctgCctgagctgttccatctgctg	13	12	2	1	rs371977184		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:116691796C>A	ENST00000357780.3	-	3	1092	c.978G>T	c.(976-978)agG>agT	p.R326S		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	326	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAGTTTCTGCCTGAGCTGTT	0.607																																																	0								ENSG00000110244	C	SER/ARG	1,4401	2.1+/-5.4	0,1,2200	69	68	68		978	-0.1	0.7	11		68	0,8584		0,0,4292	no	missense	APOA4	NM_000482.3	110	0,1,6492	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	326/397	116691796	1,12985	2201	4292	6493	APOA4	SO:0001583	missense	0			-	HGNC		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.978G>T	11.37:g.116691796C>A	ENSP00000350425:p.Arg326Ser	Somatic	0	65	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP							pfam_ApoA1_A4_E	p.R326S	ENST00000357780.3	37	c.978	CCDS31681.1	11	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008589	0.54361	2.27E-4	0.0	ENSG00000110244	ENST00000357780	T	0.74209	-0.82	5.39	-0.085	0.13688	Apolipoprotein/apolipophorin (1);	0.345830	0.27172	N	0.020591	T	0.80093	0.4560	M	0.88570	2.965	0.30989	N	0.721575	P	0.52170	0.951	P	0.53809	0.735	T	0.77332	-0.2627	10	0.87932	D	0	-31.3028	5.0257	0.14383	0.0:0.4423:0.2637:0.294	.	326	P06727	APOA4_HUMAN	S	326	ENSP00000350425:R326S	ENSP00000350425:R326S	R	-	3	2	APOA4	116197006	0.005000	0.15991	0.691000	0.30163	0.431000	0.31685	0.382000	0.20635	-0.000000	0.14550	0.557000	0.71058	AGG	-	pfam_ApoA1_A4_E		0.607	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	protein_coding	OTTHUMT00000106279.2	C	NM_000482	-		116691796	-1	no_errors	ENST00000357780	ensembl	human	known	74_37	missense	SNP	0.911	A	A	116691796	C	A	116691796	3	1	167	1	0	0	0	0	1	0	0	0	783	738	26	3	216	3	APOA4	11	116691796	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	38964062	116691796	18314720	63	11834											
SRPR	6734	genome.wustl.edu	37	chr11	126134139	126134139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgccatcaatgagccgagGtgtctgagccatagaatggt	12	8	2	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr11:126134139G>T	ENST00000332118.6	-	13	1889	c.1735C>A	c.(1735-1737)Cct>Act	p.P579T	SRPR_ENST00000532259.1_Missense_Mutation_p.P551T	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	579					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ATGAGCCGAGGTGTCTGAGCC	0.448																																																	0								ENSG00000182934						142	142	142					11																	126134139		2201	4299	6500	SRPR	SO:0001583	missense	0			-	HGNC	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1735C>A	11.37:g.126134139G>T	ENSP00000328023:p.Pro579Thr	Somatic	0	45	0		0.528406935447922	164	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP							pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom	p.P579T	ENST00000332118.6	37	c.1735	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270181	0.80469	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.46	5.46	0.80206	Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.52759	1.655	0.80722	D	1	P;P	0.42649	0.616;0.786	P;P	0.52031	0.574;0.688	T	0.66288	-0.5961	9	0.38643	T	0.18	-14.2206	19.5125	0.95148	0.0:0.0:1.0:0.0	.	551;579	E9PJS4;P08240	.;SRPR_HUMAN	T	579;551	.	ENSP00000328023:P579T	P	-	1	0	SRPR	125639349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.840000	0.97914	0.655000	0.94253	CCT	-	pfam_SRP54_GTPase_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_SRP54_GTPase_dom		0.448	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	protein_coding	OTTHUMT00000386425.2	G	NM_003139	-		126134139	-1	no_errors	ENST00000332118	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126134139	G	T	126134139	3	4	167	1	0	0	0	0	1	0	0	0	15169	1261	44	3	189	3	SRPR	11	126134139	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	9442343	126134139	8872377	64	11835											
LRRK2	120892	genome.wustl.edu	37	chr12	40681216	40681216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaaagtgctgtggaagaagGaacagcctcaggcagcgatg	15	7	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:40681216G>T	ENST00000298910.7	+	20	2622	c.2564G>T	c.(2563-2565)gGa>gTa	p.G855V	LRRK2_ENST00000343742.2_Missense_Mutation_p.G855V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	855					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGGAAGAAGGAACAGCCTCA	0.388																																																	0								ENSG00000188906						116	111	112					12																	40681216		2203	4299	6502	LRRK2	SO:0001583	missense	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2564G>T	12.37:g.40681216G>T	ENSP00000298910:p.Gly855Val	Somatic	0	52	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.G855V	ENST00000298910.7	37	c.2564	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	3.763	-0.049295	0.07407	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.70749	2.33;-0.51	5.5	2.72	0.32119	.	0.499292	0.21103	N	0.080136	T	0.52322	0.1727	N	0.12746	0.255	0.09310	N	1	P;B	0.39216	0.664;0.011	B;B	0.41860	0.368;0.005	T	0.40869	-0.9540	10	0.26408	T	0.33	.	9.4855	0.38926	0.282:0.0:0.718:0.0	.	855;855	E9PC85;Q5S007	.;LRRK2_HUMAN	V	855	ENSP00000341930:G855V;ENSP00000298910:G855V	ENSP00000298910:G855V	G	+	2	0	LRRK2	38967483	0.086000	0.21541	0.005000	0.12908	0.182000	0.23217	0.836000	0.27545	0.302000	0.22762	0.491000	0.48974	GGA	-	NULL		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513	-		40681216	1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	SNP	0.002	T	T	40681216	G	T	40681216	3	4	167	1	0	0	0	0	1	0	0	0	9035	1174	41	3	2642	3	LRRK2	12	40681216	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		40681216	93170679	65	11836											
DDX23	9416	genome.wustl.edu	37	chr12	49227209	49227209	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccatgtcaatcatcctatCtgcctcatccagaaccacat	4	16	4	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:49227209C>A	ENST00000308025.3	-	13	1733	c.1654G>T	c.(1654-1656)Gat>Tat	p.D552Y		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	552	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						ATCATCCTATCTGCCTCATCC	0.542																																																	0								ENSG00000174243						126	112	117					12																	49227209		2203	4300	6503	DDX23	SO:0001583	missense	0			-	HGNC	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.1654G>T	12.37:g.49227209C>A	ENSP00000310723:p.Asp552Tyr	Somatic	0	72	0		0.528406935447922	289	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.51	B2R600|B4DH15|O43188	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D552Y	ENST00000308025.3	37	c.1654	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883159	0.91740	.	.	ENSG00000174243	ENST00000308025	T	0.07908	3.15	5.93	5.93	0.95920	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70749	-0.4787	10	0.87932	D	0	-19.1466	19.1152	0.93336	0.0:1.0:0.0:0.0	.	552	Q9BUQ8	DDX23_HUMAN	Y	552	ENSP00000310723:D552Y	ENSP00000310723:D552Y	D	-	1	0	DDX23	47513476	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.746000	0.85057	2.815000	0.96918	0.561000	0.74099	GAT	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.542	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	protein_coding	OTTHUMT00000408897.2	C	NM_004818	-		49227209	-1	no_errors	ENST00000308025	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49227209	C	A	49227209	3	1	167	1	0	0	0	0	1	0	0	0	4352	913	32	3	828	3	DDX23	12	49227209	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	8545993	49227209	84624686	66	11837											
SCN8A	6334	genome.wustl.edu	37	chr12	52200275	52200275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcatcttctccatttttGggatgtccaattttgcatat	6	8	3	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:52200275G>T	ENST00000354534.6	+	27	5183	c.5005G>T	c.(5005-5007)Ggg>Tgg	p.G1669W	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1628W	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1669					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.G1669W(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTCCATTTTTGGGATGTCCAA	0.458																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000196876						167	168	168					12																	52200275		2203	4300	6503	SCN8A	SO:0001583	missense	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5005G>T	12.37:g.52200275G>T	ENSP00000346534:p.Gly1669Trp	Somatic	0	53	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G1669W	ENST00000354534.6	37	c.5005	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492557	0.64074	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.97598	-4.45;-4.45	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97922	1.0315	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	1669	Q9UQD0	SCN8A_HUMAN	W	1669;1628	ENSP00000346534:G1669W;ENSP00000440360:G1628W	ENSP00000346534:G1669W	G	+	1	0	SCN8A	50486542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGG	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	G	NM_014191	-		52200275	1	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52200275	G	T	52200275	3	4	167	1	0	0	0	0	1	0	0	0	13932	1348	47	3	5107	3	SCN8A	12	52200275	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	2973066	52200275	81651620	67	11838											
ITGB7	3695	genome.wustl.edu	37	chr12	53589909	53589909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgccgcccaacttcccGtccccagctgtatggaatgt	8	14	0	0	rs372436147		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:53589909G>A	ENST00000267082.5	-	7	1122	c.891C>T	c.(889-891)gaC>gaT	p.D297D	ITGB7_ENST00000422257.3_Silent_p.D297D|ITGB7_ENST00000338737.4_Silent_p.D297D|ITGB7_ENST00000550743.2_Silent_p.D297D	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	297	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAACTTCCCGTCCCCAGCTG	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		20336	0		0	False		,,,				2504	0																0								ENSG00000139626	G		1,4405	2.1+/-5.4	0,1,2202	104	93	97		891	-2.3	1	12		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB7	NM_000889.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		297/799	53589909	2,13004	2203	4300	6503	ITGB7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.891C>T	12.37:g.53589909G>A		Somatic	0	51	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	24	57.14	Q9UCP7|Q9UCS7	Silent	SNP							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.D297	ENST00000267082.5	37	c.891	CCDS8849.1	12																																																																																			-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu		0.552	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	protein_coding	OTTHUMT00000405821.2	G		-		53589909	-1	no_errors	ENST00000267082	ensembl	human	known	74_37	silent	SNP	0.990	A	A	53589909	G	A	53589909	2	1	167	1	0	0	0	0	0	0	0	1	7902	1136	40	1		1	ITGB7	12	53589909	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	1389634	53589909	80261986	68	11839											
GLS2	27165	genome.wustl.edu	37	chr12	56868879	56868879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taattccgatcccctgtttcCttctctgactggaatctgaa	6	12	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:56868879C>A	ENST00000311966.4	-	10	1223	c.945G>T	c.(943-945)aaG>aaT	p.K315N	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	315					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CCCCTGTTTCCTTCTCTGACT	0.473																																																	0								ENSG00000135423						143	151	148					12																	56868879		2203	4300	6503	GLS2	SO:0001583	missense	0			-	HGNC		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.945G>T	12.37:g.56868879C>A	ENSP00000310447:p.Lys315Asn	Somatic	0	30	0		0.528406935447922	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP							pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.K315N	ENST00000311966.4	37	c.945	CCDS8921.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.90|18.90	3.720699|3.720699	0.68959|0.68959	.|.	.|.	ENSG00000135423|ENSG00000135423	ENST00000311966|ENST00000461077	T|.	0.43294|.	0.95|.	5.03|5.03	4.12|4.12	0.48240|0.48240	Beta-lactamase/transpeptidase-like (1);|.	0.099070|.	0.64402|.	D|.	0.000002|.	T|T	0.68622|0.68622	0.3021|0.3021	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	P|.	0.48764|.	0.915|.	P|.	0.58266|.	0.836|.	T|T	0.71988|0.71988	-0.4426|-0.4426	10|6	0.66056|0.87932	D|D	0.02|0	-19.3872|-19.3872	7.3719|7.3719	0.26806|0.26806	0.0:0.7632:0.0:0.2368|0.0:0.7632:0.0:0.2368	.|.	315|.	Q9UI32|.	GLSL_HUMAN|.	N|M	315|171	ENSP00000310447:K315N|.	ENSP00000310447:K315N|ENSP00000417244:R171M	K|R	-|-	3|2	2|0	GLS2|GLS2	55155146|55155146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.347000|1.347000	0.33975|0.33975	2.499000|2.499000	0.84300|0.84300	0.655000|0.655000	0.94253|0.94253	AAG|AGG	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase		0.473	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	protein_coding	OTTHUMT00000277113.1	C	NM_013267	-		56868879	-1	no_errors	ENST00000311966	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56868879	C	A	56868879	3	1	167	1	0	0	0	0	1	0	0	0	6466	680	24	3	899	3	GLS2	12	56868879	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	3278970	56868879	76983016	69	11840											
FRS2	10818	genome.wustl.edu	37	chr12	69967977	69967977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttgttttagggccaaccCctgttcaaaagcagttaatg	8	8	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:69967977C>A	ENST00000550389.1	+	7	1015	c.769C>A	c.(769-771)Cct>Act	p.P257T	FRS2_ENST00000299293.2_Missense_Mutation_p.P257T|FRS2_ENST00000397997.2_Missense_Mutation_p.P257T|FRS2_ENST00000549921.1_Missense_Mutation_p.P257T	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	257					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGGCCAACCCCTGTTCAAAA	0.423																																																	0								ENSG00000166225						72	68	69					12																	69967977		1865	4097	5962	FRS2	SO:0001583	missense	0			-	HGNC	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.769C>A	12.37:g.69967977C>A	ENSP00000447241:p.Pro257Thr	Somatic	0	37	0		0.528406935447922	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P257T	ENST00000550389.1	37	c.769	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406014	0.42715	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.9	5.01	0.66863	.	0.145399	0.64402	D	0.000005	T	0.29028	0.0721	L	0.52011	1.625	0.54753	D	0.99998	B	0.30793	0.295	B	0.28011	0.085	T	0.03795	-1.1003	9	.	.	.	-8.5926	14.8457	0.70259	0.0:0.9313:0.0:0.0687	.	257	Q8WU20	FRS2_HUMAN	T	257	ENSP00000299293:P257T;ENSP00000450048:P257T;ENSP00000447241:P257T;ENSP00000381083:P257T	.	P	+	1	0	FRS2	68254244	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.576000	0.82467	1.493000	0.48517	0.650000	0.86243	CCT	-	NULL		0.423	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	protein_coding	OTTHUMT00000403760.1	C	NM_006654	-		69967977	1	no_errors	ENST00000299293	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69967977	C	A	69967977	3	1	167	1	0	0	0	0	1	0	0	0	6063	623	22	3	787	3	FRS2	12	69967977	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	13099098	69967977	63883918	70	11841											
UTP20	27340	genome.wustl.edu	37	chr12	101685626	101685626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccttatacttgtaaaacatgGaagtgggacaaagataccca	8	8	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr12:101685626G>T	ENST00000261637.4	+	9	1172	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	333					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTAAAACATGGAAGTGGGACA	0.383																																																	0								ENSG00000120800						68	67	67					12																	101685626		2203	4300	6503	UTP20	SO:0001583	missense	0			-	HGNC	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.998G>T	12.37:g.101685626G>T	ENSP00000261637:p.Gly333Val	Somatic	0	32	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q9H3H4	Missense_Mutation	SNP							pfam_DRIM,superfamily_ARM-type_fold	p.G333V	ENST00000261637.4	37	c.998	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	9.322	1.058410	0.19987	.	.	ENSG00000120800	ENST00000261637	T	0.64260	-0.09	5.81	4.9	0.64082	Armadillo-type fold (1);	0.273174	0.36703	N	0.002458	T	0.55401	0.1918	L	0.47716	1.5	0.49687	D	0.999816	P	0.36222	0.544	B	0.33392	0.163	T	0.56123	-0.8031	10	0.34782	T	0.22	-23.8057	17.1615	0.86804	0.0:0.1753:0.8247:0.0	.	333	O75691	UTP20_HUMAN	V	333	ENSP00000261637:G333V	ENSP00000261637:G333V	G	+	2	0	UTP20	100209757	0.975000	0.34042	0.967000	0.41034	0.048000	0.14542	1.758000	0.38410	2.746000	0.94184	0.655000	0.94253	GGA	-	superfamily_ARM-type_fold		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	protein_coding	OTTHUMT00000408242.1	G	NM_014503	-		101685626	1	no_errors	ENST00000261637	ensembl	human	known	74_37	missense	SNP	0.782	T	T	101685626	G	T	101685626	3	4	167	1	0	0	0	0	1	0	0	0	17106	1174	41	3	1032	3	UTP20	12	101685626	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	31717649	101685626	32166269	71	11842											
AKAP11	11215	genome.wustl.edu	37	chr13	42891697	42891697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagacactgctaattaCgaatattgacatggagccat	9	7	0	2	rs529206918		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr13:42891697C>T	ENST00000025301.2	+	12	5613	c.5438C>T	c.(5437-5439)aCg>aTg	p.T1813M		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1813					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGCTAATTACGAATATTGAC	0.378													C|||	1	0.000199681	0	0	5008	,	,		19758	0		0	False		,,,				2504	0.001																0								ENSG00000023516						125	115	119					13																	42891697		2203	4300	6503	AKAP11	SO:0001583	missense	0			-	HGNC	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5438C>T	13.37:g.42891697C>T	ENSP00000025301:p.Thr1813Met	Somatic	0	47	0		0.528406935447922	20	9.09	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	O75124|Q9NUK7	Missense_Mutation	SNP							NULL	p.T1813M	ENST00000025301.2	37	c.5438	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495713	0.26774	.	.	ENSG00000023516	ENST00000025301	T	0.14022	2.54	5.79	2.67	0.31697	.	0.540943	0.18111	N	0.151344	T	0.06508	0.0167	L	0.27053	0.805	0.09310	N	1	P	0.38167	0.621	B	0.24006	0.05	T	0.30909	-0.9962	10	0.44086	T	0.13	.	4.7101	0.12868	0.0:0.4758:0.164:0.3601	.	1813	Q9UKA4	AKA11_HUMAN	M	1813	ENSP00000025301:T1813M	ENSP00000025301:T1813M	T	+	2	0	AKAP11	41789697	0.001000	0.12720	0.015000	0.15790	0.989000	0.77384	0.562000	0.23531	0.769000	0.33313	0.557000	0.71058	ACG	-	NULL		0.378	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	protein_coding	OTTHUMT00000044700.2	C	NM_016248	-		42891697	1	no_errors	ENST00000025301	ensembl	human	known	74_37	missense	SNP	0.000	T	T	42891697	C	T	42891697	3	4	167	1	0	0	0	0	1	0	0	0	447	536	19	1	5476	1	AKAP11	13	42891697	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		42891697	72278181	72	11843											
PCDH20	64881	genome.wustl.edu	37	chr13	61985538	61985538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccagtgtgatggaaccCaagcttattacagacagagc	11	9	0	4			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr13:61985538C>A	ENST00000409186.1	-	5	4799	c.2694G>T	c.(2692-2694)ttG>ttT	p.L898F	PCDH20_ENST00000409204.4_Missense_Mutation_p.L898F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	898					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGATGGAACCCAAGCTTATTA	0.433																																																	0								ENSG00000197991						95	81	86					13																	61985538		2203	4300	6503	PCDH20	SO:0001583	missense	0			-	HGNC	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2694G>T	13.37:g.61985538C>A	ENSP00000386653:p.Leu898Phe	Somatic	0	40	0		0.528406935447922	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L898F	ENST00000409186.1	37	c.2694	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300403	0.81136	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.58940	0.3;0.3	6.07	6.07	0.98685	.	0.000000	0.52532	D	0.000077	T	0.67832	0.2935	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.65212	-0.6223	10	0.46703	T	0.11	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	898	A8K1K9	.	F	898;898;644	ENSP00000387250:L898F;ENSP00000386653:L898F	ENSP00000351500:L644F	L	-	3	2	PCDH20	60883539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	2.885000	0.99019	0.655000	0.94253	TTG	-	NULL		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	protein_coding	OTTHUMT00000333054.2	C	NM_022843	-		61985538	-1	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61985538	C	A	61985538	3	1	167	1	0	0	0	0	1	0	0	0	11517	593	21	3	165	3	PCDH20	13	61985538	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	19093841	61985538	53184340	73	11844											
OR4M1	441670	genome.wustl.edu	37	chr14	20249229	20249229	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attcccacattaccattgtgGtgctaatgtttgggccatcc	8	11	0	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr14:20249229G>C	ENST00000315957.4	+	1	829	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACCATTGTGGTGCTAATGTT	0.448																																																	0								ENSG00000176299						230	209	216					14																	20249229		2203	4297	6500	OR4M1	SO:0001583	missense	0			-	HGNC		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.748G>C	14.37:g.20249229G>C	ENSP00000319654:p.Val250Leu	Somatic	0	173	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	141	21.23	B9EH18|Q6IFA3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V250L	ENST00000315957.4	37	c.748	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	7.088	0.571506	0.13623	.	.	ENSG00000176299	ENST00000315957	T	0.39787	1.06	4.42	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000411	T	0.21145	0.0509	N	0.04768	-0.165	0.32828	D	0.503717	B	0.25563	0.129	B	0.23852	0.049	T	0.20505	-1.0273	10	0.45353	T	0.12	-12.7343	10.122	0.42627	0.1008:0.0:0.8992:0.0	.	250	Q8NGD0	OR4M1_HUMAN	L	250	ENSP00000319654:V250L	ENSP00000319654:V250L	V	+	1	0	OR4M1	19319069	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.346000	0.19997	2.468000	0.83385	0.506000	0.49869	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	protein_coding	OTTHUMT00000409770.1	G		-		20249229	1	no_errors	ENST00000315957	ensembl	human	known	74_37	missense	SNP	0.998	C	C	20249229	G	C	20249229	3	2	167	1	0	0	0	0	1	0	0	0	11077	1261	44	4	750	4	OR4M1	14	20249229	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		20249229	87100311	74	11845											
KIAA1409	57578	genome.wustl.edu	37	chr14	94083507	94083507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgggaaaacaccttctcCccttagtggttcaggtgctc	9	12	2	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr14:94083507C>A	ENST00000393151.2	+	28	4081	c.4081C>A	c.(4081-4083)Ccc>Acc	p.P1361T	UNC79_ENST00000555664.1_Missense_Mutation_p.P1361T|UNC79_ENST00000553484.1_Missense_Mutation_p.P1383T|UNC79_ENST00000256339.4_Missense_Mutation_p.P1184T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1361					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACACCTTCTCCCCTTAGTGGT	0.418																																																	0								ENSG00000133958						113	110	111					14																	94083507		2203	4300	6503	UNC79	SO:0001583	missense	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4081C>A	14.37:g.94083507C>A	ENSP00000376858:p.Pro1361Thr	Somatic	0	29	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B5MDL6|Q6ZUT7	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.P1383T	ENST00000393151.2	37	c.4147		14	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273844	0.80580	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20200	2.12;2.09;2.12;2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.47190	1.495	0.54753	D	0.99998	D	0.89917	1.0	D	0.83275	0.996	T	0.18398	-1.0338	10	0.72032	D	0.01	-20.0382	19.8778	0.96885	0.0:1.0:0.0:0.0	.	1383	C9JQL1	.	T	1184;1361;1383;1361;1383	ENSP00000256339:P1184T;ENSP00000450868:P1361T;ENSP00000451360:P1383T;ENSP00000376858:P1361T	ENSP00000256339:P1184T	P	+	1	0	KIAA1409	93153260	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.554000	0.82212	2.710000	0.92621	0.585000	0.79938	CCC	-	superfamily_ARM-type_fold		0.418	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	C	XM_028395	-		94083507	1	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	94083507	C	A	94083507	3	1	167	1	0	0	0	0	1	0	0	0	8232	623	22	3	3648	3	KIAA1409	14	94083507	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	73834278	94083507	13266033	75	11846											
ATG2B	55102	genome.wustl.edu	37	chr14	96784117	96784117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctactgaaagcccaatGccataggaaatattctcgaa	8	10	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr14:96784117G>A	ENST00000359933.4	-	19	3848	c.2955C>T	c.(2953-2955)ggC>ggT	p.G985G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	985					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGCCCAATGCCATAGGAAA	0.343																																																	0								ENSG00000066739						97	93	95					14																	96784117		1833	4103	5936	ATG2B	SO:0001819	synonymous_variant	0			-	HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2955C>T	14.37:g.96784117G>A		Somatic	0	107	0		0.528406935447922	5	50	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	41	51.76	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP							pfam_Autophagy-rel_C	p.G985	ENST00000359933.4	37	c.2955	CCDS9944.2	14																																																																																			-	NULL		0.343	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	G	NM_018036	-		96784117	-1	no_errors	ENST00000359933	ensembl	human	known	74_37	silent	SNP	0.301	A	A	96784117	G	A	96784117	2	1	167	1	0	0	0	0	0	0	0	1	1094	1306	46	2		2	ATG2B	14	96784117	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	2700610	96784117	10565423	76	11847											
PLD4	122618	genome.wustl.edu	37	chr14	105394089	105394089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggcaagtgccccgtcCtcccacctggggccaggtgc	13	17	0	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr14:105394089C>T	ENST00000392593.4	+	3	338	c.170C>T	c.(169-171)cCt>cTt	p.P57L	PLD4_ENST00000540372.1_Missense_Mutation_p.P64L	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	57					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GTGCCCCGTCCTCCCACCTGG	0.687																																																	0								ENSG00000166428						18	23	21					14																	105394089		2126	4247	6373	PLD4	SO:0001583	missense	0			-	HGNC		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.170C>T	14.37:g.105394089C>T	ENSP00000376372:p.Pro57Leu	Somatic	0	92	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	59	43.81	Q6UWD2	Missense_Mutation	SNP							pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.P57L	ENST00000392593.4	37	c.170	CCDS9995.2	14	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470648	0.26423	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.26223	1.81;1.83;1.75	3.28	0.44	0.16572	.	1.201940	0.06377	U	0.714593	T	0.15305	0.0369	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.31251	-0.9950	10	0.28530	T	0.3	-0.0024	5.3366	0.15961	0.0:0.6065:0.0:0.3935	.	64;57	F5H2B5;Q96BZ4	.;PLD4_HUMAN	L	64;57;55	ENSP00000438677:P64L;ENSP00000376372:P57L;ENSP00000451278:P55L	ENSP00000376372:P57L	P	+	2	0	PLD4	104465134	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.262000	0.18460	0.076000	0.16826	0.511000	0.50034	CCT	-	NULL		0.687	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	protein_coding	OTTHUMT00000291348.2	C	NM_138790	-		105394089	1	no_errors	ENST00000392593	ensembl	human	known	74_37	missense	SNP	0.000	T	T	105394089	C	T	105394089	3	4	167	1	0	0	0	0	1	0	0	0	12050	681	24	2	176	2	PLD4	14	105394089	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	8609972	105394089	1955451	77	11848											
GABRG3	2567	genome.wustl.edu	37	chr15	27777805	27777805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcactttaaacaattcCgtttactggcaggaatttga	7	7	1	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr15:27777805C>T	ENST00000333743.6	+	10	1436	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	394					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)			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)	TAAACAATTCCGTTTACTGGC	0.423																																					NSCLC(114;800 1656 7410 37729 45293)												0								ENSG00000182256						97	99	98					15																	27777805		1966	4153	6119	GABRG3	SO:0001819	synonymous_variant	0			-	HGNC		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.1182C>T	15.37:g.27777805C>T		Somatic	0	72	0		0.528406935447922	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	36	65.05	G3V594|Q9HD46|Q9NYT2	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S394	ENST00000333743.6	37	c.1182	CCDS45195.1	15																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg3_rcpt,tigrfam_Neur_channel		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	protein_coding	OTTHUMT00000103584.2	C		-		27777805	1	no_errors	ENST00000333743	ensembl	human	known	74_37	silent	SNP	1.000	T	T	27777805	C	T	27777805	2	4	167	1	0	0	0	0	0	0	0	1	6175	639	23	1		1	GABRG3	15	27777805	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		27777805	74753587	78	11849											
MYO9A	4649	genome.wustl.edu	37	chr15	72190133	72190133	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagggaccccagtacattaaGttctcccttatttgaggtat	8	9	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr15:72190133G>C	ENST00000356056.5	-	25	5183	c.4711C>G	c.(4711-4713)Ctt>Gtt	p.L1571V	MYO9A_ENST00000444904.1_Missense_Mutation_p.L1552V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1571V|MYO9A_ENST00000566885.1_Missense_Mutation_p.L1191V|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1571V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1571	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTACATTAAGTTCTCCCTTA	0.463																																																	0								ENSG00000066933						66	60	62					15																	72190133		2199	4297	6496	MYO9A	SO:0001583	missense	0			-	HGNC	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4711C>G	15.37:g.72190133G>C	ENSP00000348349:p.Leu1571Val	Somatic	0	45	0		0.528406935447922	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	47	27.69	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L1571V	ENST00000356056.5	37	c.4711	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.507910	0.00984	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84070	-1.8;-1.78;-1.79	5.92	0.523	0.17060	.	.	.	.	.	T	0.65354	0.2683	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.0	B;B;B	0.12837	0.008;0.008;0.0	T	0.50136	-0.8863	9	0.30854	T	0.27	.	1.9466	0.03358	0.2783:0.1309:0.4636:0.1272	.	1552;1571;1571	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	V	1571;1571;1552	ENSP00000348349:L1571V;ENSP00000399162:L1571V;ENSP00000398250:L1552V	ENSP00000348349:L1571V	L	-	1	0	MYO9A	69977187	0.177000	0.23109	0.114000	0.21550	0.150000	0.21749	0.526000	0.22971	0.378000	0.24764	0.650000	0.86243	CTT	-	NULL		0.463	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	protein_coding	OTTHUMT00000257308.1	G	NM_006901	-		72190133	-1	no_errors	ENST00000424560	ensembl	human	known	74_37	missense	SNP	0.012	C	C	72190133	G	C	72190133	3	2	167	1	0	0	0	0	1	0	0	0	10086	1029	36	4	3007	4	MYO9A	15	72190133	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	44412328	72190133	30341259	79	11850											
CHD2	1106	genome.wustl.edu	37	chr15	93558113	93558113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagataactacaatcaccCcaacaagagacacttcagta	5	11	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr15:93558113C>A	ENST00000394196.4	+	37	5948	c.4880C>A	c.(4879-4881)cCc>cAc	p.P1627H	CHD2_ENST00000557381.1_Missense_Mutation_p.P1627H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1627					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TACAATCACCCCAACAAGAGA	0.448																																																	0								ENSG00000173575						148	144	146					15																	93558113		2197	4298	6495	CHD2	SO:0001583	missense	0			-	HGNC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4880C>A	15.37:g.93558113C>A	ENSP00000377747:p.Pro1627His	Somatic	0	29	0		0.528406935447922	239	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	C6G482|Q96IP5	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P1627H	ENST00000394196.4	37	c.4880	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552287	0.27739	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	D;D;T	0.89746	-2.56;-2.53;0.89	5.8	5.8	0.92144	.	0.000000	0.33650	U	0.004689	D	0.88314	0.6403	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.983;0.99	P;P	0.56474	0.635;0.799	D	0.89369	0.3673	10	0.52906	T	0.07	-14.3291	20.0544	0.97645	0.0:1.0:0.0:0.0	.	1627;1627	O14647;O14647-2	CHD2_HUMAN;.	H	1627;1627;152	ENSP00000377747:P1627H;ENSP00000451366:P1627H;ENSP00000451539:P152H	ENSP00000377747:P1627H	P	+	2	0	CHD2	91359117	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.299000	0.65716	2.746000	0.94184	0.591000	0.81541	CCC	-	NULL		0.448	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	C	NM_001271	-		93558113	1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	SNP	1.000	A	A	93558113	C	A	93558113	3	1	167	1	0	0	0	0	1	0	0	0	3327	623	22	3	5026	3	CHD2	15	93558113	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	21367980	93558113	8973279	80	11851											
GRIN2A	2903	genome.wustl.edu	37	chr16	9923461	9923461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttattgaacaccaggcccCaaagaagccatatagctttt	7	10	0	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:9923461C>A	ENST00000396573.2	-	10	2135	c.1826G>T	c.(1825-1827)tGg>tTg	p.W609L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.W609L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.W609L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.W609L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.W452L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.W609L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	609					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCAGGCCCCAAAGAAGCCA	0.453																																																	0								ENSG00000183454						71	66	68					16																	9923461		2197	4300	6497	GRIN2A	SO:0001583	missense	0			-	HGNC		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1826G>T	16.37:g.9923461C>A	ENSP00000379818:p.Trp609Leu	Somatic	0	60	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O00669|Q17RZ6	Missense_Mutation	SNP							pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W609L	ENST00000396573.2	37	c.1826	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853885	0.91355	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.998;1.0;0.995	T	0.58239	-0.7671	9	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	452;609;609	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	609;609;452;609;609	ENSP00000379818:W609L;ENSP00000385872:W609L;ENSP00000441572:W452L;ENSP00000332549:W609L;ENSP00000379820:W609L	.	W	-	2	0	GRIN2A	9830962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	TGG	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	C		-		9923461	-1	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9923461	C	A	9923461	3	1	167	1	0	0	0	0	1	0	0	0	6781	595	21	3	2588	3	GRIN2A	16	9923461	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		9923461	80431292	81	11852											
CD19	930	genome.wustl.edu	37	chr16	28943879	28943879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgtgccagccggggCccccctctgagaaggcctgg	13	16	2	1	rs566183838		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:28943879C>A	ENST00000324662.3	+	2	345	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	CD19_ENST00000567541.1_Missense_Mutation_p.P101T|CD19_ENST00000538922.1_Missense_Mutation_p.P101T			P15391	CD19_HUMAN	CD19 molecule	101	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|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)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCAGCCGGGGCCCCCCTCTGA	0.657																																																	0								ENSG00000177455						12	15	14					16																	28943879		2186	4272	6458	CD19	SO:0001583	missense	0			-	HGNC		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.301C>A	16.37:g.28943879C>A	ENSP00000313419:p.Pro101Thr	Somatic	0	38	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.P101T	ENST00000324662.3	37	c.301	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	C	7.398	0.632139	0.14322	.	.	ENSG00000177455	ENST00000538922;ENST00000324662	T;T	0.39997	1.05;1.05	5.64	4.69	0.59074	Immunoglobulin subtype (1);	0.392571	0.21964	N	0.066550	T	0.35068	0.0919	L	0.32530	0.975	0.09310	N	1	B;B	0.33413	0.358;0.411	B;B	0.38225	0.175;0.268	T	0.24941	-1.0146	10	0.40728	T	0.16	-6.9123	10.6353	0.45560	0.0:0.911:0.0:0.089	.	101;101	F5H635;P15391	.;CD19_HUMAN	T	101	ENSP00000437940:P101T;ENSP00000313419:P101T	ENSP00000313419:P101T	P	+	1	0	CD19	28851380	0.001000	0.12720	0.003000	0.11579	0.050000	0.14768	0.942000	0.29017	1.379000	0.46325	0.514000	0.50259	CCC	-	smart_Ig_sub		0.657	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	protein_coding	OTTHUMT00000214152.2	C		-		28943879	1	no_errors	ENST00000538922	ensembl	human	known	74_37	missense	SNP	0.005	A	A	28943879	C	A	28943879	3	1	167	1	0	0	0	0	1	0	0	0	2975	739	26	3	307	3	CD19	16	28943879	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	19020418	28943879	61410874	82	11853											
SRCAP	10847	genome.wustl.edu	37	chr16	30734385	30734385	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccattggccccagcacccCggcctccgagctctgggctt	10	19	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:30734385C>A	ENST00000262518.4	+	24	4379	c.3994C>A	c.(3994-3996)Cgg>Agg	p.R1332R	SRCAP_ENST00000344771.4_Silent_p.R1174R|SRCAP_ENST00000395059.2_Silent_p.R1270R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1332	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R1332R(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCAGCACCCCGGCCTCCGAG	0.602																																																	1	Substitution - coding silent(1)	urinary_tract(1)						ENSG00000080603						76	79	78					16																	30734385		2197	4300	6497	SRCAP	SO:0001819	synonymous_variant	0			-	HGNC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3994C>A	16.37:g.30734385C>A		Somatic	0	80	0		0.528406935447922	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R1332	ENST00000262518.4	37	c.3994	CCDS10689.2	16																																																																																			-	NULL		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	protein_coding	OTTHUMT00000255523.1	C	NM_006662	-		30734385	1	no_errors	ENST00000262518	ensembl	human	known	74_37	silent	SNP	0.989	A	A	30734385	C	A	30734385	2	1	167	1	0	0	0	0	0	0	0	1	15142	643	23	3		3	SRCAP	16	30734385	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	1790506	30734385	59620368	83	11854											
SHCBP1	79801	genome.wustl.edu	37	chr16	46633815	46633815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatatcagcaccagtgcagtCcacaaaagtgtcgcctttgc	8	12	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:46633815C>A	ENST00000303383.3	-	9	1539	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	425					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCAGTGCAGTCCACAAAAGTG	0.408																																																	0								ENSG00000171241						101	95	97					16																	46633815		2203	4300	6503	SHCBP1	SO:0001583	missense	0			-	HGNC	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1273G>T	16.37:g.46633815C>A	ENSP00000306473:p.Asp425Tyr	Somatic	0	27	0		0.528406935447922	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP							superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.D425Y	ENST00000303383.3	37	c.1273	CCDS10720.1	16	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121824	0.56613	.	.	ENSG00000171241	ENST00000303383	T	0.47177	0.85	3.79	3.79	0.43588	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.101764	0.64402	D	0.000003	T	0.59932	0.2230	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.64037	-0.6501	10	0.56958	D	0.05	-21.6653	15.8308	0.78749	0.0:1.0:0.0:0.0	.	425	Q8NEM2	SHCBP_HUMAN	Y	425	ENSP00000306473:D425Y	ENSP00000306473:D425Y	D	-	1	0	SHCBP1	45191316	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	6.833000	0.75334	1.953000	0.56701	0.563000	0.77884	GAC	-	superfamily_Pectin_lyase_fold/virulence		0.408	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	protein_coding	OTTHUMT00000255740.1	C	NM_024745	-		46633815	-1	no_errors	ENST00000303383	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46633815	C	A	46633815	3	1	167	1	0	0	0	0	1	0	0	0	14282	855	30	3	765	3	SHCBP1	16	46633815	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	15899430	46633815	43720938	84	11855											
NFATC3	4775	genome.wustl.edu	37	chr16	68156082	68156082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaatctaaatatagccCattaggtggtcccaaaccct	6	12	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:68156082C>A	ENST00000346183.3	+	2	320	c.296C>A	c.(295-297)cCa>cAa	p.P99Q	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.P99Q|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.P99Q|NFATC3_ENST00000349223.5_Missense_Mutation_p.P99Q	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	99					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAATATAGCCCATTAGGTGGT	0.403																																																	0								ENSG00000072736						121	111	114					16																	68156082		2198	4300	6498	NFATC3	SO:0001583	missense	0			-	HGNC	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.296C>A	16.37:g.68156082C>A	ENSP00000300659:p.Pro99Gln	Somatic	0	53	0		0.528406935447922	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P99Q	ENST00000346183.3	37	c.296	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884528	0.51908	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08984	3.03;3.04;3.04	5.71	5.71	0.89125	.	0.165522	0.53938	D	0.000041	T	0.13884	0.0336	L	0.54323	1.7	0.52501	D	0.99995	B;B;B;B	0.23591	0.007;0.088;0.007;0.025	B;B;B;B	0.25759	0.005;0.063;0.007;0.005	T	0.02596	-1.1136	10	0.87932	D	0	-2.5734	20.2785	0.98491	0.0:1.0:0.0:0.0	.	99;99;99;99	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	99	ENSP00000264008:P99Q;ENSP00000300659:P99Q;ENSP00000331324:P99Q	ENSP00000331324:P99Q	P	+	2	0	NFATC3	66713583	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.074000	0.57577	2.869000	0.98440	0.558000	0.71614	CCA	-	NULL		0.403	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	protein_coding	OTTHUMT00000268890.2	C	NM_004555	-		68156082	1	no_errors	ENST00000346183	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68156082	C	A	68156082	3	1	167	1	0	0	0	0	1	0	0	0	10366	594	21	3	302	3	NFATC3	16	68156082	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	21522267	68156082	22198671	85	11856											
ADAD2	161931	genome.wustl.edu	37	chr16	84230276	84230276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctggggcctccctcccGtctctgcaaggcctcctttc	9	20	1	0	rs374328634		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:84230276G>A	ENST00000315906.5	+	9	1602	c.1550G>A	c.(1549-1551)cGt>cAt	p.R517H	ADAD2_ENST00000268624.3_Missense_Mutation_p.R599H|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	517	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCTCCCTCCCGTCTCTGCAAG	0.612																																																	0								ENSG00000140955	G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	96	102	100		1550,1796	4.2	1	16		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	29,29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	517/584,599/666	84230276	1,12999	2200	4300	6500	ADAD2	SO:0001583	missense	0			-	HGNC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1550G>A	16.37:g.84230276G>A	ENSP00000325153:p.Arg517His	Somatic	0	35	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	18	52.63	B2RCL6|Q8NA94	Missense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R599H	ENST00000315906.5	37	c.1796	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500070	0.64298	0.0	1.16E-4	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94723	-3.5;-3.5	5.27	4.25	0.50352	Adenosine deaminase/editase (2);	0.000000	0.64402	D	0.000001	D	0.97387	0.9145	M	0.91872	3.25	0.47183	D	0.999341	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97499	1.0059	10	0.87932	D	0	-37.8386	11.0193	0.47709	0.0:0.1882:0.8118:0.0	.	517;599	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	H	517;599	ENSP00000325153:R517H;ENSP00000268624:R599H	ENSP00000268624:R599H	R	+	2	0	ADAD2	82787777	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	3.533000	0.53561	2.440000	0.82611	0.585000	0.79938	CGT	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.612	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	protein_coding	OTTHUMT00000433385.1	G	NM_139174	-		84230276	1	no_errors	ENST00000268624	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84230276	G	A	84230276	3	1	167	1	0	0	0	0	1	0	0	0	232	1145	40	1	1834	1	ADAD2	16	84230276	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	16074194	84230276	6124477	86	11857											
CRISPLD2	83716	genome.wustl.edu	37	chr16	84900557	84900557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgaatgaggtggaaacggCtcccattcctgaagaaaacc	11	9	0	4			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr16:84900557C>A	ENST00000262424.5	+	7	988	c.764C>A	c.(763-765)gCt>gAt	p.A255D	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A254D|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A255D	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	255					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						GTGGAAACGGCTCCCATTCCT	0.468																																																	0								ENSG00000103196						126	107	113					16																	84900557		2199	4300	6499	CRISPLD2	SO:0001583	missense	0			-	HGNC	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.764C>A	16.37:g.84900557C>A	ENSP00000262424:p.Ala255Asp	Somatic	0	64	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP							pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.A255D	ENST00000262424.5	37	c.764	CCDS10949.1	16	.	.	.	.	.	.	.	.	.	.	C	3.943	-0.013912	0.07681	.	.	ENSG00000103196	ENST00000262424	T	0.63913	-0.07	5.66	2.61	0.31194	.	0.565777	0.19448	N	0.114007	T	0.50120	0.1597	L	0.47716	1.5	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.10450	0.002;0.005;0.004	T	0.33803	-0.9854	10	0.21540	T	0.41	.	8.5757	0.33597	0.0:0.754:0.1364:0.1096	.	255;255;255	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	D	255	ENSP00000262424:A255D	ENSP00000262424:A255D	A	+	2	0	CRISPLD2	83458058	0.065000	0.20965	0.001000	0.08648	0.014000	0.08584	1.323000	0.33701	0.313000	0.23062	0.655000	0.94253	GCT	-	NULL		0.468	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	protein_coding	OTTHUMT00000269086.2	C	NM_031476	-		84900557	1	no_errors	ENST00000262424	ensembl	human	known	74_37	missense	SNP	0.004	A	A	84900557	C	A	84900557	3	1	167	1	0	0	0	0	1	0	0	0	3885	797	28	3	786	3	CRISPLD2	16	84900557	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	670281	84900557	5454196	87	11858											
SMYD4	114826	genome.wustl.edu	37	chr17	1686764	1686764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccgacagccgctgaacaGctcgctctgtcaatgcagag	10	15	2	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr17:1686764G>T	ENST00000305513.7	-	9	2194	c.2027C>A	c.(2026-2028)gCt>gAt	p.A676D		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	676							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCGCTGAACAGCTCGCTCTGT	0.602																																																	0								ENSG00000186532						17	18	18					17																	1686764		2203	4300	6503	SMYD4	SO:0001583	missense	0			-	HGNC	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2027C>A	17.37:g.1686764G>T	ENSP00000304360:p.Ala676Asp	Somatic	0	90	0		0.528406935447922	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP							pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.A676D	ENST00000305513.7	37	c.2027	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451826	0.84209	.	.	ENSG00000186532	ENST00000305513	D	0.89617	-2.54	5.75	5.75	0.90469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94948	0.8097	10	0.72032	D	0.01	-17.057	17.113	0.86681	0.0:0.0:1.0:0.0	.	676	Q8IYR2	SMYD4_HUMAN	D	676	ENSP00000304360:A676D	ENSP00000304360:A676D	A	-	2	0	SMYD4	1633514	1.000000	0.71417	0.730000	0.30809	0.005000	0.04900	6.462000	0.73526	2.724000	0.93272	0.555000	0.69702	GCT	-	NULL		0.602	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	protein_coding	OTTHUMT00000207108.4	G	XM_056082	-		1686764	-1	no_errors	ENST00000305513	ensembl	human	known	74_37	missense	SNP	0.973	T	T	1686764	G	T	1686764	3	4	167	1	0	0	0	0	1	0	0	0	14832	971	34	3	399	3	SMYD4	17	1686764	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		1686764	79508446	88	11859											
DVL2	1856	genome.wustl.edu	37	chr17	7131008	7131008	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatccagatgtaatggtgctCatggaggaggaacctggata	14	6	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr17:7131008C>A	ENST00000005340.5	-	11	1479	c.1197G>T	c.(1195-1197)atG>atT	p.M399I	DVL2_ENST00000575458.1_Missense_Mutation_p.M393I|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	399					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TAATGGTGCTCATGGAGGAGG	0.602																																																	0								ENSG00000004975						65	64	64					17																	7131008		2203	4300	6503	DVL2	SO:0001583	missense	0			-	HGNC	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1197G>T	17.37:g.7131008C>A	ENSP00000005340:p.Met399Ile	Somatic	0	57	0		0.528406935447922	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	D3DTN3|Q53XM0	Missense_Mutation	SNP							pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.M399I	ENST00000005340.5	37	c.1197	CCDS11091.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841440	0.32513	.	.	ENSG00000004975	ENST00000005340	T	0.03951	3.75	4.65	4.65	0.58169	.	0.060098	0.64402	D	0.000002	T	0.09730	0.0239	M	0.82323	2.585	0.42291	D	0.992137	B;B	0.31241	0.315;0.035	B;B	0.29942	0.109;0.008	T	0.09164	-1.0687	10	0.22706	T	0.39	-17.5283	15.0392	0.71774	0.0:1.0:0.0:0.0	.	393;399	B4DLQ0;O14641	.;DVL2_HUMAN	I	399	ENSP00000005340:M399I	ENSP00000005340:M399I	M	-	3	0	DVL2	7071732	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.277000	0.58939	2.412000	0.81896	0.563000	0.77884	ATG	-	NULL		0.602	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	protein_coding	OTTHUMT00000219999.2	C	NM_004422	-		7131008	-1	no_errors	ENST00000005340	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7131008	C	A	7131008	3	1	167	1	0	0	0	0	1	0	0	0	4838	826	29	3	1033	3	DVL2	17	7131008	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	5444244	7131008	74064202	89	11860											
ACAP1	9744	genome.wustl.edu	37	chr17	7253505	7253505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgagactctgaaggcaGggaccctctgaccatcgcca	12	14	2	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr17:7253505G>T	ENST00000158762.3	+	20	2227	c.2021G>T	c.(2020-2022)aGg>aTg	p.R674M	ACAP1_ENST00000570504.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|ACAP1_ENST00000574499.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	674	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTGAAGGCAGGGACCCTCTG	0.647																																																	0								ENSG00000072818						80	82	81					17																	7253505		2203	4300	6503	ACAP1	SO:0001583	missense	0			-	HGNC	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.2021G>T	17.37:g.7253505G>T	ENSP00000158762:p.Arg674Met	Somatic	0	76	0		0.528406935447922	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q53XN9	Missense_Mutation	SNP							pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.R674M	ENST00000158762.3	37	c.2021	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346873	0.61183	.	.	ENSG00000072818	ENST00000158762	T	0.35048	1.33	5.26	-0.543	0.11851	Ankyrin repeat-containing domain (3);	0.341358	0.34959	N	0.003554	T	0.22627	0.0546	L	0.29908	0.895	0.80722	D	1	P	0.36789	0.57	B	0.36885	0.235	T	0.03166	-1.1065	10	0.52906	T	0.07	.	8.0061	0.30325	0.6096:0.0:0.3904:0.0	.	674	Q15027	ACAP1_HUMAN	M	674	ENSP00000158762:R674M	ENSP00000158762:R674M	R	+	2	0	ACAP1	7194229	1.000000	0.71417	0.970000	0.41538	0.967000	0.64934	3.168000	0.50801	0.067000	0.16545	0.448000	0.29417	AGG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.647	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	protein_coding	OTTHUMT00000220049.4	G	NM_014716	-		7253505	1	no_errors	ENST00000158762	ensembl	human	known	74_37	missense	SNP	0.953	T	T	7253505	G	T	7253505	3	4	167	1	0	0	0	0	1	0	0	0	118	1000	35	3	2099	3	ACAP1	17	7253505	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	122497	7253505	73941705	90	11861											
NEK8	284086	genome.wustl.edu	37	chr17	27067518	27067518	+	Frame_Shift_Del	DEL	C	C	-													accagggagtcccacagctgCccccagcaggtgcccatgcc							TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr17:27067518delC	ENST00000268766.6	+	11	1489	c.1455delC	c.(1453-1455)tgcfs	p.C485fs	AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	485					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCCACAGCTGCCCCCAGCAGG	0.572																																					NSCLC(6;19 293 14866 25253 49845)												0								ENSG00000160602						87	84	85					17																	27067518		2203	4300	6503	NEK8	SO:0001589	frameshift_variant	0				HGNC	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1455delC	17.37:g.27067518delC	ENSP00000268766:p.Cys485fs	Somatic	0	24	0		0.528406935447922	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q487fs	ENST00000268766.6	37	c.1455	CCDS32597.1	17																																																																																			-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.572	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	protein_coding	OTTHUMT00000446467.2	C				27067518	1	no_errors	ENST00000268766	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	27067518	C	-	27067518	7	5	167	1	0	1	0	1	0	0	0	0	10332	747	26	0	1497	0	NEK8	17	27067518	Frame_Shift_Del	DEL	C	TCGA-JV-A75J-01A-11D-A32I-09	19814013	27067518	54127692	91	11862											
RHBDL3	162494	genome.wustl.edu	37	chr17	30621407	30621407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactccctggtttaccaccCacagctgcgagcacaggttt	9	14	0	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr17:30621407C>A	ENST00000269051.4	+	5	628	c.614C>A	c.(613-615)cCa>cAa	p.P205Q	RHBDL3_ENST00000538145.1_Missense_Mutation_p.P197Q|RHBDL3_ENST00000536287.1_Missense_Mutation_p.P107Q	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	205						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTTTACCACCCACAGCTGCGA	0.478																																																	0								ENSG00000141314						159	131	140					17																	30621407		2203	4300	6503	RHBDL3	SO:0001583	missense	0			-	HGNC	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.614C>A	17.37:g.30621407C>A	ENSP00000269051:p.Pro205Gln	Somatic	0	81	0		0.528406935447922	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP							pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom	p.P205Q	ENST00000269051.4	37	c.614	CCDS32613.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.137629	0.94517	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.85710	2.77	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	T	0.42068	-0.9473	10	0.87932	D	0	-38.6186	20.8794	0.99867	0.0:1.0:0.0:0.0	.	205;197;205	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	Q	205;205;197;107	ENSP00000394849:P205Q;ENSP00000269051:P205Q;ENSP00000442092:P197Q;ENSP00000466508:P107Q	ENSP00000269051:P205Q	P	+	2	0	RHBDL3	27645520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCA	-	pirsf_Peptidase_S54_rhomboid_met		0.478	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RHBDL3	protein_coding	OTTHUMT00000447120.1	C	NM_138328	-		30621407	1	no_errors	ENST00000269051	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30621407	C	A	30621407	3	1	167	1	0	0	0	0	1	0	0	0	13331	594	21	3	632	3	RHBDL3	17	30621407	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	3553889	30621407	50573803	92	11863											
STAC2	342667	genome.wustl.edu	37	chr17	37373336	37373336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccgctcaccgtcttgCctgggcattgctggtgggag	15	13	2	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr17:37373336C>T	ENST00000333461.5	-	3	857	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	163					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CACCGTCTTGCCTGGGCATTG	0.567																																																	0								ENSG00000141750						62	56	58					17																	37373336		2203	4300	6503	STAC2	SO:0001583	missense	0			-	HGNC	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.488G>A	17.37:g.37373336C>T	ENSP00000327509:p.Gly163Asp	Somatic	0	19	0		0.528406935447922	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	Q32MA3	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.G163D	ENST00000333461.5	37	c.488	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	c	23.8	4.454185	0.84209	.	.	ENSG00000141750	ENST00000333461	D	0.83506	-1.73	5.18	4.19	0.49359	.	0.115599	0.64402	D	0.000020	D	0.89410	0.6707	M	0.89030	3	0.46396	D	0.99902	D	0.55800	0.973	P	0.53035	0.716	D	0.91027	0.4861	10	0.87932	D	0	0.2709	13.5752	0.61870	0.173:0.827:0.0:0.0	.	163	Q6ZMT1	STAC2_HUMAN	D	163	ENSP00000327509:G163D	ENSP00000327509:G163D	G	-	2	0	STAC2	34626862	1.000000	0.71417	0.977000	0.42913	0.919000	0.55068	5.069000	0.64370	1.108000	0.41662	0.491000	0.48974	GGC	-	NULL		0.567	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	protein_coding	OTTHUMT00000444533.2	C	NM_198993	-		37373336	-1	no_errors	ENST00000333461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37373336	C	T	37373336	3	4	167	1	0	0	0	0	1	0	0	0	15247	739	26	2	783	2	STAC2	17	37373336	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	6751929	37373336	43821874	93	11864											
TCF4	6925	genome.wustl.edu	37	chr18	52937080	52937080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccattatactgtctgtccCgttggcaggaggcgtacagg	12	11	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr18:52937080C>A	ENST00000356073.4	-	11	1515	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W	TCF4_ENST00000566286.1_Missense_Mutation_p.G300W|TCF4_ENST00000537856.3_Missense_Mutation_p.G172W|TCF4_ENST00000537578.1_Missense_Mutation_p.G278W|TCF4_ENST00000543082.1_Missense_Mutation_p.G260W|TCF4_ENST00000457482.3_Missense_Mutation_p.G142W|TCF4_ENST00000540999.1_Missense_Mutation_p.G278W|TCF4_ENST00000544241.2_Missense_Mutation_p.G231W|TCF4_ENST00000568740.1_Missense_Mutation_p.G277W|TCF4_ENST00000570287.2_Missense_Mutation_p.G142W|TCF4_ENST00000570177.2_Missense_Mutation_p.G172W|TCF4_ENST00000566279.1_Missense_Mutation_p.G242W|TCF4_ENST00000564228.1_Missense_Mutation_p.G231W|TCF4_ENST00000564403.2_Missense_Mutation_p.G308W|TCF4_ENST00000398339.1_Missense_Mutation_p.G404W|TCF4_ENST00000354452.3_Missense_Mutation_p.G302W|TCF4_ENST00000564999.1_Missense_Mutation_p.G302W|TCF4_ENST00000561992.1_Missense_Mutation_p.G172W|TCF4_ENST00000561831.3_Missense_Mutation_p.G142W|TCF4_ENST00000565018.2_Missense_Mutation_p.G302W|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000568673.1_Missense_Mutation_p.G278W|TCF4_ENST00000567880.1_Missense_Mutation_p.G242W	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	302					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)		CTGTCTGTCCCGTTGGCAGGA	0.453																																																	0								ENSG00000196628						150	123	132					18																	52937080		2203	4300	6503	TCF4	SO:0001583	missense	0			-	HGNC	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.904G>T	18.37:g.52937080C>A	ENSP00000348374:p.Gly302Trp	Somatic	0	65	0		0.528406935447922	98	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G404W	ENST00000356073.4	37	c.1210	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150870	0.78001	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.81497	2.545	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.999;0.999;1.0;0.999;0.998;0.998;0.986;0.991	T	0.75013	-0.3467	10	0.87932	D	0	-9.0284	18.8159	0.92076	0.0:1.0:0.0:0.0	.	278;302;278;142;404;302;260;231;142;300	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	W	302;142;302;260;278;278;231;172;404	ENSP00000346440:G302W;ENSP00000409447:G142W;ENSP00000348374:G302W;ENSP00000439656:G260W;ENSP00000445202:G278W;ENSP00000440731:G278W;ENSP00000441562:G231W;ENSP00000439827:G172W;ENSP00000381382:G404W	ENSP00000346440:G302W	G	-	1	0	TCF4	51088078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.422000	0.66453	2.734000	0.93682	0.460000	0.39030	GGG	-	NULL		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	protein_coding	OTTHUMT00000256014.1	C	NM_003199	-		52937080	-1	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52937080	C	A	52937080	3	1	167	1	0	0	0	0	1	0	0	0	15702	652	23	3	1147	3	TCF4	18	52937080	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		52937080	25140168	94	11865											
TSHZ1	10194	genome.wustl.edu	37	chr18	72998202	72998202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacagggacaaggactcCgagaagaccaagaggtggtc	14	9	0	3	rs573970992		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr18:72998202C>T	ENST00000580243.1	+	2	1188	c.840C>T	c.(838-840)tcC>tcT	p.S280S	TSHZ1_ENST00000322038.5_Silent_p.S235S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	280					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACAAGGACTCCGAGAAGACCA	0.587																																																	0								ENSG00000179981						111	89	96					18																	72998202		2203	4300	6503	TSHZ1	SO:0001819	synonymous_variant	0			-	HGNC	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.840C>T	18.37:g.72998202C>T		Somatic	0	42	0		0.528406935447922	29	48.21	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	27	55.00	O60534|Q4LE29|Q53EU4	Silent	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S280	ENST00000580243.1	37	c.840		18																																																																																			-	NULL		0.587	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	protein_coding	OTTHUMT00000444913.1	C	NM_005786	-		72998202	1	no_errors	ENST00000580243	ensembl	human	known	74_37	silent	SNP	0.999	T	T	72998202	C	T	72998202	2	4	167	1	0	0	0	0	0	0	0	1	16630	639	23	1		1	TSHZ1	18	72998202	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	20061122	72998202	5079046	95	11866											
ZNF555	148254	genome.wustl.edu	37	chr19	2852664	2852664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatggagagagaccctatGtgtgtaaattatgtgggaaa	12	4	0	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:2852664G>T	ENST00000334241.4	+	4	739	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L	ZNF555_ENST00000591539.1_Missense_Mutation_p.V200L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	201					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(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GAGACCCTATGTGTGTAAATT	0.463																																																	0								ENSG00000186300						139	119	126					19																	2852664		2203	4300	6503	ZNF555	SO:0001583	missense	0			-	HGNC	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.601G>T	19.37:g.2852664G>T	ENSP00000334853:p.Val201Leu	Somatic	0	28	0		0.528406935447922	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V201L	ENST00000334241.4	37	c.601	CCDS12096.1	19	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613311	0.28712	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.27890	1.64	3.4	0.0812	0.14424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18923	0.0454	L	0.28556	0.865	0.09310	N	1	B;B	0.18013	0.025;0.011	B;B	0.19666	0.026;0.016	T	0.29488	-1.0010	9	0.72032	D	0.01	.	2.5508	0.04748	0.3835:0.0:0.3974:0.2191	.	201;200	Q8NEP9;A8KA89	ZN555_HUMAN;.	L	201;200	ENSP00000334853:V201L	ENSP00000334853:V201L	V	+	1	0	ZNF555	2803664	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.810000	0.04505	0.264000	0.21851	0.561000	0.74099	GTG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	protein_coding	OTTHUMT00000451637.3	G	NM_152791	-		2852664	1	no_errors	ENST00000334241	ensembl	human	known	74_37	missense	SNP	0.000	T	T	2852664	G	T	2852664	3	4	167	1	0	0	0	0	1	0	0	0	17993	1377	48	3	615	3	ZNF555	19	2852664	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		2852664	56276319	96	11867											
ZNF317	57693	genome.wustl.edu	37	chr19	9271774	9271774	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgcgggaaagtcttcggtGactatttatcccggcggagg	14	10	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:9271774G>T	ENST00000247956.6	+	7	1758	c.1453G>T	c.(1453-1455)Gac>Tac	p.D485Y	ZNF317_ENST00000360385.3_Missense_Mutation_p.D453Y	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	485					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(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTCTTCGGTGACTATTTATC	0.542																																																	0								ENSG00000130803						53	48	50					19																	9271774		2203	4300	6503	ZNF317	SO:0001583	missense	0			-	HGNC	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1453G>T	19.37:g.9271774G>T	ENSP00000247956:p.Asp485Tyr	Somatic	0	31	0		0.528406935447922	44	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D485Y	ENST00000247956.6	37	c.1453	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.037167	0.00406	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.55052	0.54;0.54	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000529	T	0.37999	0.1024	N	0.02403	-0.565	0.09310	N	1	B;D	0.89917	0.225;1.0	B;D	0.91635	0.031;0.999	T	0.37220	-0.9715	10	0.06757	T	0.87	-31.7878	8.7914	0.34852	0.0:0.0:1.0:0.0	.	453;485	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	Y	485;453	ENSP00000247956:D485Y;ENSP00000353554:D453Y	ENSP00000247956:D485Y	D	+	1	0	ZNF317	9132774	0.000000	0.05858	0.005000	0.12908	0.115000	0.19883	-0.427000	0.06999	1.771000	0.52183	0.491000	0.48974	GAC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.542	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	protein_coding	OTTHUMT00000448995.1	G	NM_020933	-		9271774	1	no_errors	ENST00000247956	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9271774	G	T	9271774	3	4	167	1	0	0	0	0	1	0	0	0	17842	1290	45	3	1475	3	ZNF317	19	9271774	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	6419110	9271774	49857209	97	11868											
DNMT1	1786	genome.wustl.edu	37	chr19	10287970	10287970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttatcgtatactgacccCtttgcaaaatgagatgtgat	7	7	0	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:10287970C>T	ENST00000340748.4	-	5	754	c.519G>A	c.(517-519)aaG>aaA	p.K173K	DNMT1_ENST00000359526.4_Silent_p.K189K|DNMT1_ENST00000540357.1_Silent_p.K173K			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	173	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)	ATACTGACCCCTTTGCAAAAT	0.463																																																	0								ENSG00000130816						145	128	134					19																	10287970		2203	4300	6503	DNMT1	SO:0001819	synonymous_variant	0			-	HGNC	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.519G>A	19.37:g.10287970C>T		Somatic	0	82	0		0.528406935447922	150	33.63	76	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	81	28.32	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP							pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.K189	ENST00000340748.4	37	c.567	CCDS12228.1	19																																																																																			-	pirsf_DNA_C5-MeTrfase_1_euk		0.463	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	protein_coding	OTTHUMT00000451166.1	C	NM_001379	-		10287970	-1	no_errors	ENST00000359526	ensembl	human	known	74_37	silent	SNP	0.692	T	T	10287970	C	T	10287970	2	4	167	1	0	0	0	0	0	0	0	1	4677	680	24	2		2	DNMT1	19	10287970	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	1016196	10287970	48841013	98	11869											
FCGBP	8857	genome.wustl.edu	37	chr19	40433817	40433817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgacattcctggctgagGtgccggggggtgtgagcaca	16	10	0	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:40433817G>T	ENST00000221347.6	-	2	459	c.452C>A	c.(451-453)aCc>aAc	p.T151N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	151	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)			CCTGGCTGAGGTGCCGGGGGG	0.607																																																	0								ENSG00000090920						51	50	50					19																	40433817		2203	4300	6503	FCGBP	SO:0001583	missense	0			-	HGNC	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.452C>A	19.37:g.40433817G>T	ENSP00000221347:p.Thr151Asn	Somatic	0	36	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.T151N	ENST00000221347.6	37	c.452	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	1.822	-0.472039	0.04445	.	.	ENSG00000090920	ENST00000221347	T	0.18810	2.19	4.37	-4.62	0.03370	.	2.116670	0.02483	N	0.088706	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.14980	-1.0453	10	0.21014	T	0.42	.	0.5161	0.00604	0.3821:0.2164:0.1825:0.2189	.	151	Q9Y6R7	FCGBP_HUMAN	N	151	ENSP00000221347:T151N	ENSP00000221347:T151N	T	-	2	0	FCGBP	45125657	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.607000	0.05648	-0.743000	0.04784	0.655000	0.94253	ACC	-	NULL		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890	-		40433817	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.000	T	T	40433817	G	T	40433817	3	4	167	1	0	0	0	0	1	0	0	0	5780	1261	44	3	15905	3	FCGBP	19	40433817	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	30145847	40433817	18695166	99	11870											
NOVA2	4858	genome.wustl.edu	37	chr19	46457065	46457065	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtcggggttcatcgtGgtttggggttgaaggatgtt	17	5	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:46457065G>T	ENST00000263257.5	-	3	563	c.369C>A	c.(367-369)acC>acA	p.T123T		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	123					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGTTCATCGTGGTTTGGGGTT	0.522																																																	0								ENSG00000104967						307	260	276					19																	46457065		2203	4300	6503	NOVA2	SO:0001819	synonymous_variant	0			-	HGNC	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.369C>A	19.37:g.46457065G>T		Somatic	0	64	0		0.528406935447922	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O43267|Q9UEA1	Silent	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.T123	ENST00000263257.5	37	c.369	CCDS12679.1	19																																																																																			-	NULL		0.522	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	protein_coding	OTTHUMT00000437210.2	G	NM_002516	-		46457065	-1	no_errors	ENST00000263257	ensembl	human	known	74_37	silent	SNP	1.000	T	T	46457065	G	T	46457065	2	4	167	1	0	0	0	0	0	0	0	1	10557	1335	47	3		3	NOVA2	19	46457065	Silent	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09	6023248	46457065	12671918	100	11871											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47424701	47424701	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggttcacaagcatcccCtgtagccaaccccagcataa	8	14	1	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:47424701C>A	ENST00000404338.3	+	1	2769	c.2769C>A	c.(2767-2769)ccC>ccA	p.P923P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	923					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)										CAAGCATCCCCTGTAGCCAAC	0.433																																																	0								ENSG00000160007						120	118	119					19																	47424701		1910	4135	6045	ARHGAP35	SO:0001819	synonymous_variant	0			-	HGNC	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.2769C>A	19.37:g.47424701C>A		Somatic	0	48	0		0.528406935447922	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A7E2A4|Q14452|Q9C0E1	Silent	SNP							pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P923	ENST00000404338.3	37	c.2769	CCDS46127.1	19																																																																																			-	NULL		0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	C	NM_004491	-		47424701	1	no_errors	ENST00000404338	ensembl	human	known	74_37	silent	SNP	1.000	A	A	47424701	C	A	47424701	2	1	167	1	0	0	0	0	0	0	0	1	6797	668	24	3		3	ARHGAP35	19	47424701	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	967636	47424701	11704282	101	11872											
LIG1	3978	genome.wustl.edu	37	chr19	48647158	48647158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttctggcccggtttccagCaggcatcttccacgggatga	11	13	2	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:48647158C>A	ENST00000263274.7	-	10	1258	c.839G>T	c.(838-840)tGc>tTc	p.C280F	LIG1_ENST00000536218.1_Missense_Mutation_p.C212F|CTC-453G23.4_ENST00000594589.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.C249F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	280					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|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)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGGTTTCCAGCAGGCATCTTC	0.547								Nucleotide excision repair (NER)																																									0								ENSG00000105486						133	137	136					19																	48647158		2203	4300	6503	LIG1	SO:0001583	missense	0			-	HGNC		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.839G>T	19.37:g.48647158C>A	ENSP00000263274:p.Cys280Phe	Somatic	0	109	0		0.528406935447922	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP							pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.C280F	ENST00000263274.7	37	c.839	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727540	0.69074	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.88	4.88	0.63580	DNA ligase, ATP-dependent, N-terminal (2);	0.098790	0.64402	D	0.000001	T	0.20536	0.0494	M	0.66939	2.045	0.58432	D	0.999999	P;P;P	0.45396	0.553;0.661;0.857	B;B;B	0.36418	0.049;0.224;0.175	T	0.10567	-1.0624	10	0.09843	T	0.71	-26.3242	16.3342	0.83052	0.0:1.0:0.0:0.0	.	249;212;280	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	F	280;311;249;212;248	ENSP00000263274:C280F;ENSP00000442841:C249F;ENSP00000441531:C212F;ENSP00000445928:C248F	ENSP00000263274:C280F	C	-	2	0	LIG1	53338970	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.774000	0.68906	2.630000	0.89119	0.655000	0.94253	TGC	-	superfamily_DNA_ligase_ATP-dep_N		0.547	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	protein_coding	OTTHUMT00000465575.1	C	NM_000234	-		48647158	-1	no_errors	ENST00000263274	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48647158	C	A	48647158	3	1	167	1	0	0	0	0	1	0	0	0	8783	710	25	3	1996	3	LIG1	19	48647158	Missense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	1222457	48647158	10481825	102	11873											
SYNGR4	23546	genome.wustl.edu	37	chr19	48869112	48869112	+	Frame_Shift_Del	DEL	A	A	-													cagctgccatgcacatccccAaaagcctccaggagctggcc							TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:48869112delA	ENST00000344846.2	+	2	263	c.13delA	c.(13-15)aaafs	p.K5fs	TMEM143_ENST00000436660.2_5'Flank|TMEM143_ENST00000377431.2_5'Flank|TMEM143_ENST00000541566.1_5'Flank|TMEM143_ENST00000435956.3_5'Flank|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000293261.3_5'Flank	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	5						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)		GCACATCCCCAAAAGCCTCCA	0.657																																																	0								ENSG00000105467						94	93	94					19																	48869112		2203	4300	6503	SYNGR4	SO:0001589	frameshift_variant	0				HGNC	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.13delA	19.37:g.48869112delA	ENSP00000344041:p.Lys5fs	Somatic	0	40	0		0.528406935447922	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q3KP58	Frame_Shift_Del	DEL							pfam_Marvel,pirsf_Synaptogyrin	p.S6fs	ENST00000344846.2	37	c.13	CCDS12717.1	19																																																																																			-	pirsf_Synaptogyrin		0.657	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	protein_coding	OTTHUMT00000465704.1	A				48869112	1	no_errors	ENST00000344846	ensembl	human	known	74_37	frame_shift_del	DEL	0.005	-	-	48869112	A	-	48869112	7	5	167	1	0	1	0	1	0	0	0	0	15458	131	5	0	15	0	SYNGR4	19	48869112	Frame_Shift_Del	DEL	A	TCGA-JV-A75J-01A-11D-A32I-09	221954	48869112	10259871	103	11874											
BCL2L12	83596	genome.wustl.edu	37	chr19	50169166	50169166	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcgtcacatgcaaaTtgagcgtgcacccagcgttc	12	12	1	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:50169166T>A	ENST00000246785.3	+	1	344	c.86T>A	c.(85-87)aTt>aAt	p.I29N	IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000601291.1_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.I29N|IRF3_ENST00000599223.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.I29N|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000596765.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	29					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CACATGCAAATTGAGCGTGCA	0.602																																																	0								ENSG00000126453						37	39	39					19																	50169166		2203	4300	6503	BCL2L12	SO:0001583	missense	0			-	HGNC	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.86T>A	19.37:g.50169166T>A	ENSP00000246785:p.Ile29Asn	Somatic	0	54	0		0.528406935447922	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	61	40.78	Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP							NULL	p.I29N	ENST00000246785.3	37	c.86	CCDS12776.1	19	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158751	0.57368	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.56776	0.62;0.62;0.44	3.62	3.62	0.41486	.	0.459704	0.16205	U	0.224767	T	0.37705	0.1013	N	0.08118	0	0.29706	N	0.839742	P;P	0.47677	0.899;0.899	P;P	0.47705	0.555;0.555	T	0.31447	-0.9943	10	0.87932	D	0	0.1035	8.8927	0.35444	0.0:0.0:0.0:1.0	.	29;29	Q3SY13;Q9HB09	.;B2L12_HUMAN	N	29	ENSP00000246785:I29N;ENSP00000393803:I29N;ENSP00000246784:I29N	ENSP00000246784:I29N	I	+	2	0	BCL2L12	54860978	0.980000	0.34600	0.877000	0.34402	0.435000	0.31806	1.996000	0.40776	1.898000	0.54952	0.383000	0.25322	ATT	-	NULL		0.602	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	protein_coding	OTTHUMT00000465770.1	T	NM_052842	-		50169166	1	no_errors	ENST00000246785	ensembl	human	known	74_37	missense	SNP	0.888	A	A	50169166	T	A	50169166	3	1	167	1	0	0	0	0	1	0	0	0	1370	1493	52	5	88	5	BCL2L12	19	50169166	Missense_Mutation	SNP	T	TCGA-JV-A75J-01A-11D-A32I-09	1300054	50169166	8959817	104	11875											
ZNF577	84765	genome.wustl.edu	37	chr19	52383628	52383628	+	Frame_Shift_Del	DEL	T	T	-													cagacattacaatcgtggcaTttttcatgtgtttcctgtta							TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:52383628delT	ENST00000301399.5	-	4	373	c.8delA	c.(7-9)aatfs	p.N3fs	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Frame_Shift_Del_p.N3fs|ZNF577_ENST00000420592.1_Frame_Shift_Del_p.N3fs|ZNF577_ENST00000451628.2_Frame_Shift_Del_p.N3fs	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	3					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)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		aatcgtggcatttttcatgtg	0.418																																																	0								ENSG00000161551						193	177	183					19																	52383628		2203	4300	6503	ZNF577	SO:0001589	frameshift_variant	0				HGNC	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.8delA	19.37:g.52383628delT	ENSP00000301399:p.Asn3fs	Somatic	0	17	0		0.528406935447922	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	A8K0B4|A8K6Z7|C9JFB9	Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N3fs	ENST00000301399.5	37	c.8	CCDS12842.2	19																																																																																			-	NULL		0.418	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	protein_coding	OTTHUMT00000347243.1	T	NM_032679			52383628	-1	no_errors	ENST00000301399	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	52383628	T	-	52383628	7	5	167	1	0	1	0	1	0	0	0	0	18016	1493	52	0	1465	0	ZNF577	19	52383628	Frame_Shift_Del	DEL	T	TCGA-JV-A75J-01A-11D-A32I-09	2214462	52383628	6745355	105	11876											
LENG8	114823	genome.wustl.edu	37	chr19	54967914	54967914	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcagaagcgggcagcccgCttccagcacggacactcccg	12	16	0	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr19:54967914C>A	ENST00000326764.5	+	11	2024	c.1545C>A	c.(1543-1545)cgC>cgA	p.R515R	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	478										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGCAGCCCGCTTCCAGCACG	0.677																																																	0								ENSG00000167615						24	27	26					19																	54967914		2200	4296	6496	LENG8	SO:0001819	synonymous_variant	0			-	HGNC	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1545C>A	19.37:g.54967914C>A		Somatic	0	51	0		0.528406935447922	101	50.97	105	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	25	52.83	B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP							pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R515	ENST00000326764.5	37	c.1545	CCDS12894.1	19																																																																																			-	NULL		0.677	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	protein_coding	OTTHUMT00000140523.2	C	NM_052925	-		54967914	1	no_errors	ENST00000326764	ensembl	human	known	74_37	silent	SNP	1.000	A	A	54967914	C	A	54967914	2	1	167	1	0	0	0	0	0	0	0	1	8726	784	28	3		3	LENG8	19	54967914	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	2584286	54967914	4161069	106	11877											
ISM1	140862	genome.wustl.edu	37	chr20	13279761	13279761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacttccgctggaaggaCgccagcgggcccaaggagaa	15	11	0	1	rs572363345		TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr20:13279761C>T	ENST00000262487.4	+	6	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	350	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18261	0		0	False		,,,				2504	0																0								ENSG00000101230						41	47	45					20																	13279761		2144	4237	6381	ISM1	SO:0001819	synonymous_variant	0			-	HGNC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1050C>T	20.37:g.13279761C>T		Somatic	0	31	0		0.528406935447922	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	Q8WVH9	Silent	SNP							pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.D350	ENST00000262487.4	37	c.1050	CCDS46579.1	20																																																																																			-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	protein_coding	OTTHUMT00000078039.2	C		-		13279761	1	no_errors	ENST00000262487	ensembl	human	known	74_37	silent	SNP	0.980	T	T	13279761	C	T	13279761	2	4	167	1	0	0	0	0	0	0	0	1	7862	535	19	1		1	ISM1	20	13279761	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		13279761	49745759	107	11878											
CDC42EP1	11135	genome.wustl.edu	37	chr22	37964613	37964613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccctcggcaggcactGgggagcaggctgggatggcg	18	13	0	0			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chr22:37964613G>T	ENST00000249014.4	+	3	1382	c.962G>T	c.(961-963)tGg>tTg	p.W321L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	321					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGCAGGCACTGGGGAGCAGGC	0.701																																																	0								ENSG00000128283						11	13	12					22																	37964613		2189	4287	6476	CDC42EP1	SO:0001583	missense	0			-	HGNC	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.962G>T	22.37:g.37964613G>T	ENSP00000249014:p.Trp321Leu	Somatic	0	36	0		0.528406935447922	252	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K825|Q96GN1	Missense_Mutation	SNP							pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom	p.W321L	ENST00000249014.4	37	c.962	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027279	0.75390	.	.	ENSG00000128283	ENST00000249014	T	0.52057	0.68	4.81	4.81	0.61882	.	1.594300	0.03911	N	0.281911	T	0.43166	0.1235	L	0.29908	0.895	0.20975	N	0.999815	B	0.15473	0.013	B	0.11329	0.006	T	0.31110	-0.9955	10	0.13470	T	0.59	-5.2856	17.2474	0.87032	0.0:0.0:1.0:0.0	.	321	Q00587	BORG5_HUMAN	L	321	ENSP00000249014:W321L	ENSP00000249014:W321L	W	+	2	0	CDC42EP1	36294559	0.997000	0.39634	0.819000	0.32651	0.239000	0.25481	3.552000	0.53705	2.375000	0.81037	0.561000	0.74099	TGG	-	NULL		0.701	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	protein_coding	OTTHUMT00000318993.1	G	NM_152243	-		37964613	1	no_errors	ENST00000249014	ensembl	human	known	74_37	missense	SNP	0.365	T	T	37964613	G	T	37964613	3	4	167	1	0	0	0	0	1	0	0	0	3077	1357	47	3	968	3	CDC42EP1	22	37964613	Missense_Mutation	SNP	G	TCGA-JV-A75J-01A-11D-A32I-09		37964613	13339953	108	11879											
CXorf36	79742	genome.wustl.edu	37	chrX	45013192	45013192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcccactgcactggcatcCcggatgaacagatgcccgtt	10	15	0	2			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chrX:45013192C>A	ENST00000398000.2	-	4	998	c.924G>T	c.(922-924)cgG>cgT	p.R308R	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	308						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CACTGGCATCCCGGATGAACA	0.532																																																	0								ENSG00000147113						62	49	53					X																	45013192		1568	3582	5150	CXorf36	SO:0001819	synonymous_variant	0			-	HGNC	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.924G>T	X.37:g.45013192C>A		Somatic	0	29	0		0.528406935447922	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP							NULL	p.R308	ENST00000398000.2	37	c.924	CCDS48096.1	X																																																																																			-	NULL		0.532	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	protein_coding	OTTHUMT00000056333.2	C	NM_024689	-		45013192	-1	no_errors	ENST00000398000	ensembl	human	known	74_37	silent	SNP	0.994	A	A	45013192	C	A	45013192	2	1	167	1	0	0	0	0	0	0	0	1	4108	610	22	3		3	CXorf36	23	45013192	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09		45013192	110257368	109	11880											
FGD1	2245	genome.wustl.edu	37	chrX	54495293	54495293	+	Frame_Shift_Del	DEL	T	T	-													cattggcaatgtgaaacaccTtttgctgcacagtcaactgg							TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chrX:54495293delT	ENST00000375135.3	-	5	1851	c.1118delA	c.(1117-1119)aagfs	p.K373fs		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	373	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTGAAACACCTTTTGCTGCAC	0.517																																																	0								ENSG00000102302						103	72	83					X																	54495293		2203	4300	6503	FGD1	SO:0001589	frameshift_variant	0				HGNC	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1118delA	X.37:g.54495293delT	ENSP00000364277:p.Lys373fs	Somatic	0	51	0		0.528406935447922	247	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q5H999|Q8N4D9	Frame_Shift_Del	DEL							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.K373fs	ENST00000375135.3	37	c.1118	CCDS14359.1	X																																																																																			-	superfamily_DH-domain,pfscan_DH-domain		0.517	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	protein_coding	OTTHUMT00000056801.1	T	NM_004463			54495293	-1	no_errors	ENST00000375135	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	54495293	T	-	54495293	7	5	167	1	0	1	0	1	0	0	0	0	5834	1609	56	0	1823	0	FGD1	23	54495293	Frame_Shift_Del	DEL	T	TCGA-JV-A75J-01A-11D-A32I-09	9482101	54495293	100775267	110	11881											
RGAG1	57529	genome.wustl.edu	37	chrX	109695164	109695164	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctggagccatgaccacctCactgatgacagtcccaagct	8	15	2	3			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chrX:109695164C>A	ENST00000465301.2	+	3	1565	c.1319C>A	c.(1318-1320)tCa>tAa	p.S440*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.S440*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	440										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						ATGACCACCTCACTGATGACA	0.502																																																	0								ENSG00000243978						155	146	149					X																	109695164		2203	4300	6503	RGAG1	SO:0001587	stop_gained	0			-	HGNC	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.1319C>A	X.37:g.109695164C>A	ENSP00000419786:p.Ser440*	Somatic	0	41	0		0.528406935447922	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q9P2M8	Nonsense_Mutation	SNP							NULL	p.S440*	ENST00000465301.2	37	c.1319	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.140714	0.97320	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	3.97	3.09	0.35607	.	0.256644	0.20685	N	0.087574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8505	10.0145	0.42006	0.2032:0.7968:0.0:0.0	.	.	.	.	X	440	.	.	S	+	2	0	RGAG1	109581820	0.985000	0.35326	0.019000	0.16419	0.543000	0.35085	1.588000	0.36633	0.997000	0.38969	0.544000	0.68410	TCA	-	NULL		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	protein_coding	OTTHUMT00000057906.2	C	NM_020769	-		109695164	1	no_errors	ENST00000465301	ensembl	human	known	74_37	nonsense	SNP	0.053	A	A	109695164	C	A	109695164	4	1	167	1	0	0	0	0	0	1	0	0	13282	838	29	3	1321	3	RGAG1	23	109695164	Nonsense_Mutation	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	55199871	109695164	45575396	111	11882											
MAP7D3	79649	genome.wustl.edu	37	chrX	135313835	135313835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccctttcacactctcCttgggggctacttctgcgct	10	14	3	1			TCGA-JV-A75J-01A-11D-A32I-09	TCGA-JV-A75J-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9003f7a7-91de-4a5f-b63b-e2c6da70f128	dfb9bea3-cc77-42ff-b489-c40d0c923396	g.chrX:135313835C>T	ENST00000316077.9	-	8	1501	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	MAP7D3_ENST00000370661.1_Silent_p.K392K|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Silent_p.K409K	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	427					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCACACTCTCCTTGGGGGCTA	0.592																																																	0								ENSG00000129680						91	85	87					X																	135313835		1933	4115	6048	MAP7D3	SO:0001819	synonymous_variant	0			-	HGNC	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1281G>A	X.37:g.135313835C>T		Somatic	0	30	0		0.528406935447922	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP							pfam_MAP7	p.K409	ENST00000316077.9	37	c.1227	CCDS44004.1	X																																																																																			-	NULL		0.592	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	protein_coding	OTTHUMT00000058487.2	C		-		135313835	-1	no_errors	ENST00000370663	ensembl	human	known	74_37	silent	SNP	0.024	T	T	135313835	C	T	135313835	2	4	167	1	0	0	0	0	0	0	0	1	9271	680	24	2		2	MAP7D3	23	135313835	Silent	SNP	C	TCGA-JV-A75J-01A-11D-A32I-09	25618671	135313835	19956725	112	11883											
AHDC1	27245	genome.wustl.edu	37	chr1	27878567	27878567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttgggttcccggaggtaGtcaggagagctgcacacggc	15	10	1	1			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr1:27878567G>T	ENST00000247087.5	-	5	656	c.60C>A	c.(58-60)gaC>gaA	p.D20E	AHDC1_ENST00000374011.2_Missense_Mutation_p.D20E			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	20							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCGGAGGTAGTCAGGAGAGC	0.721																																																	0								ENSG00000126705						4	3	3					1																	27878567		1544	2808	4352	AHDC1	SO:0001583	missense	0			-	HGNC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.60C>A	1.37:g.27878567G>T	ENSP00000247087:p.Asp20Glu	Somatic	0	26	0		0.579984500684404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP							NULL	p.D20E	ENST00000247087.5	37	c.60	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966755	0.53507	.	.	ENSG00000126705	ENST00000247087;ENST00000374011;ENST00000407475	T;T	0.53857	0.6;0.6	4.43	4.43	0.53597	.	0.000000	0.36740	U	0.002430	T	0.47875	0.1469	N	0.14661	0.345	0.28413	N	0.91807	D	0.55605	0.972	P	0.59948	0.866	T	0.37267	-0.9713	10	0.39692	T	0.17	-14.6329	8.4887	0.33086	0.1083:0.0:0.8917:0.0	.	20	Q5TGY3	AHDC1_HUMAN	E	20	ENSP00000247087:D20E;ENSP00000363123:D20E	ENSP00000247087:D20E	D	-	3	2	AHDC1	27751154	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.094000	0.57721	2.002000	0.58637	0.305000	0.20034	GAC	-	NULL		0.721	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	protein_coding	OTTHUMT00000009523.3	G		-		27878567	-1	no_errors	ENST00000247087	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27878567	G	T	27878567	3	4	168	1	0	0	0	0	1	0	0	0	412	1020	36	3	4755	3	AHDC1	1	27878567	Missense_Mutation	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09		27878567	221372054	1	11884											
CGN	57530	genome.wustl.edu	37	chr1	151503079	151503079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggctcagcgggggctgGcccgcctggggcaggagcag	21	11	1	0			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr1:151503079G>T	ENST00000271636.7	+	13	2561	c.2428G>T	c.(2428-2430)Gcc>Tcc	p.A810S	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	804	Glu-rich.				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)			GCGGGGGCTGGCCCGCCTGGG	0.697																																																	0								ENSG00000143375						16	18	17					1																	151503079		2197	4290	6487	CGN	SO:0001583	missense	0			-	HGNC	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.2428G>T	1.37:g.151503079G>T	ENSP00000271636:p.Ala810Ser	Somatic	0	35	0		0.579984500684404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP							pfam_Myosin_tail	p.A810S	ENST00000271636.7	37	c.2428	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	2.292	-0.362207	0.05103	.	.	ENSG00000143375	ENST00000271636	T	0.62639	0.01	4.99	-1.44	0.08856	.	0.484241	0.24659	N	0.036643	T	0.09423	0.0232	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.37056	-0.9722	10	0.07813	T	0.8	-0.0757	5.3336	0.15945	0.4638:0.0:0.4026:0.1336	.	804	Q9P2M7	CING_HUMAN	S	810	ENSP00000271636:A810S	ENSP00000271636:A810S	A	+	1	0	CGN	149769703	0.002000	0.14202	0.875000	0.34327	0.967000	0.64934	-0.052000	0.11865	-0.175000	0.10725	-0.259000	0.10710	GCC	-	NULL		0.697	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	protein_coding	OTTHUMT00000034900.3	G	NM_020770	-		151503079	1	no_errors	ENST00000271636	ensembl	human	known	74_37	missense	SNP	0.001	T	T	151503079	G	T	151503079	3	4	168	1	0	0	0	0	1	0	0	0	3305	1203	42	3	2474	3	CGN	1	151503079	Missense_Mutation	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09	123624512	151503079	97747542	2	11885											
HRNR	388697	genome.wustl.edu	37	chr1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactcatgttgaccaaagAcagaagagtgacccgagcga	11	10	1	6	rs145667921		TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																																	0								ENSG00000197915						1	1	1					1																	152188847		388	960	1348	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala	Somatic	0	28	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.V1753A	ENST00000368801.2	37	c.5258	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	-	NULL		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	A	XM_373868	rs145667921		152188847	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.002	G	G	152188847	A	G	152188847	3	3	168	1	0	0	0	0	1	0	0	0	7361	275	10	5	3298	5	HRNR	1	152188847	Missense_Mutation	SNP	A	TCGA-K1-A3PO-01A-11D-A21Q-09	685768	152188847	97061774	3	11886											
BRP44	25874	genome.wustl.edu	37	chr1	167893759	167893759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcataattggagcccagaaGaaaactgttctgggacctga	10	8	2	3	rs9618	byFrequency	TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr1:167893759G>A	ENST00000367846.4	-	2	324	c.126C>T	c.(124-126)ttC>ttT	p.F42F	MPC2_ENST00000271373.4_Silent_p.F42F	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	42					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)										GAGCCCAGAAGAAAACTGTTC	0.299													A|||	2036	0.40655	0.6823	0.5202	5008	,	,		16494	0.1806		0.3519	False		,,,				2504	0.2423																0								ENSG00000143158	A	,	2624,1772		794,1036,368	17	19	18		126,126	2.1	1	1	dbSNP_79	18	2851,5725		507,1837,1944	no	coding-synonymous,coding-synonymous	BRP44	NM_001143674.2,NM_015415.3	,	1301,2873,2312	AA,AG,GG		33.2439,40.3094,42.2063	,	42/128,42/128	167893759	5475,7497	2198	4288	6486	MPC2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"brain protein 44"	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.126C>T	1.37:g.167893759G>A		Somatic	0	34	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	A8K261|Q3SXR6|Q6FIF3	Silent	SNP							pfam_MPC	p.F42	ENST00000367846.4	37	c.126	CCDS1266.1	1																																																																																			-	pfam_MPC		0.299	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPC2	protein_coding	OTTHUMT00000083652.1	G	NM_015415	rs9618		167893759	-1	no_errors	ENST00000271373	ensembl	human	known	74_37	silent	SNP	1.000	A	A	167893759	G	A	167893759	2	1	168	1	0	0	0	0	0	0	0	1	1520	933	33	2		2	BRP44	1	167893759	Silent	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09	15704912	167893759	81356862	4	11887											
KDM5B	10765	genome.wustl.edu	37	chr1	202709871	202709871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcagagccgcaccattGggcagatatgcagggatctc	11	11	3	2			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr1:202709871G>A	ENST00000367265.3	-	20	4179	c.3015C>T	c.(3013-3015)ccC>ccT	p.P1005P	KDM5B_ENST00000367264.2_Silent_p.P1041P	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1005					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCGCACCATTGGGCAGATATG	0.453																																																	0								ENSG00000117139						80	82	82					1																	202709871		2203	4300	6503	KDM5B	SO:0001819	synonymous_variant	0			-	HGNC	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3015C>T	1.37:g.202709871G>A		Somatic	0	42	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	O95811|Q15752|Q9Y3Q5	Silent	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.P1041	ENST00000367265.3	37	c.3123	CCDS30974.1	1																																																																																			-	pfam_Lys_sp_deMease_like_dom		0.453	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	protein_coding	OTTHUMT00000099184.2	G	NM_006618	-		202709871	-1	no_errors	ENST00000367264	ensembl	human	known	74_37	silent	SNP	1.000	A	A	202709871	G	A	202709871	2	1	168	1	0	0	0	0	0	0	0	1	8136	1335	47	2		2	KDM5B	1	202709871	Silent	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09	34816112	202709871	46540750	5	11888											
KIAA1486	57624	genome.wustl.edu	37	chr2	226516263	226516263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaggtaccatcatcGttagccaatcgtgattgact	9	11	1	3	rs374009602		TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr2:226516263G>A	ENST00000272907.6	+	6	2357	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	648					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TACCATCATCGTTAGCCAATC	0.502																																																	0								ENSG00000144460	G		1,4227		0,1,2113	242	244	243		1944	4.8	1	2		243	0,8462		0,0,4231	no	coding-synonymous	KIAA1486	NM_020864.1		0,1,6344	AA,AG,GG		0.0,0.0237,0.0079		648/654	226516263	1,12689	2114	4231	6345	NYAP2	SO:0001819	synonymous_variant	0			-	HGNC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1944G>A	2.37:g.226516263G>A		Somatic	0	44	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	A2RRN4|Q96NL2	Silent	SNP							NULL	p.S648	ENST00000272907.6	37	c.1944	CCDS46529.1	2																																																																																			-	NULL		0.502	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	protein_coding	OTTHUMT00000331258.1	G	NM_020864	-		226516263	1	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	SNP	1.000	A	A	226516263	G	A	226516263	2	1	168	1	0	0	0	0	0	0	0	1	8239	1132	40	1		1	KIAA1486	2	226516263	Silent	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09		226516263	16683110	6	11889											
CCDC66	285331	genome.wustl.edu	37	chr3	56650051	56650052	+	In_Frame_Ins	INS	-	-	CTT													tacatatatgaattctacgaINScttctaagaaggatactggt					rs67797937|rs77152637|rs74463118	byFrequency	TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr3:56650051_56650052insCTT	ENST00000394672.3	+	13	1883_1884	c.1813_1814insCTT	c.(1813-1815)act>aCTTct	p.606_607insS	CCDC66_ENST00000326595.7_In_Frame_Ins_p.572_573insS|CCDC66_ENST00000436465.2_In_Frame_Ins_p.606_607insS	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	606					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATTCTACGACTTCTAAGAAG	0.287																																																	0								ENSG00000180376		,	3586,680		1520,546,67					,	1.9	0		dbSNP_130	92	3788,4448		872,2044,1202	no	coding,coding	CCDC66	NM_001141947.1,NM_001012506.4	,	2392,2590,1269	A1A1,A1R,RR		45.9932,15.94,41.0174	,	,		7374,5128				CCDC66	SO:0001652	inframe_insertion	0				HGNC	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1814_1816dupCTT	3.37:g.56650052_56650054dupCTT	ENSP00000378167:p.Ser606_Ser606dup	Somatic	0	20	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B3KWL8|Q4VC34|Q8N949	In_Frame_Ins	INS							NULL	p.607in_frame_insS	ENST00000394672.3	37	c.1813_1814	CCDS46852.1	3																																																																																			-	NULL		0.287	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	protein_coding	OTTHUMT00000341473.1	-	NM_001012506			56650052	1	no_errors	ENST00000394672	ensembl	human	known	74_37	in_frame_ins	INS	0.002:0.009	CTT	CTT	56650052	-	CTT	56650051	7	5	168	1	0	1	1	0	0	0	0	0	2840	275	10	0	1863	0	CCDC66	3	56650051	In_Frame_Ins	INS	-	TCGA-K1-A3PO-01A-11D-A21Q-09		56650051	141372379	7	11890											
ETV5	2119	genome.wustl.edu	37	chr3	185823280	185823280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttgactgagatcctgaaAtagctctgaaattgaaaaag	9	5	1	5			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr3:185823280A>G	ENST00000306376.5	-	4	385	c.139T>C	c.(139-141)Ttt>Ctt	p.F47L	DGKG_ENST00000447054.1_5'Flank|ETV5_ENST00000537818.1_Missense_Mutation_p.F89L|ETV5_ENST00000434744.1_Missense_Mutation_p.F47L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	47					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGATCCTGAAATAGCTCTGAA	0.403			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0								ENSG00000244405						76	82	80					3																	185823280		2203	4300	6503	ETV5	SO:0001583	missense	0			-	HGNC	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.139T>C	3.37:g.185823280A>G	ENSP00000306894:p.Phe47Leu	Somatic	0	36	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP							pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.F89L	ENST00000306376.5	37	c.265	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328041	0.81690	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.35	5.35	0.76521	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.052176	0.85682	D	0.000000	T	0.69133	0.3077	M	0.81112	2.525	0.51482	D	0.999927	D;D	0.69078	0.997;0.979	D;D	0.77004	0.989;0.982	T	0.73994	-0.3807	10	0.87932	D	0	.	13.1469	0.59467	1.0:0.0:0.0:0.0	.	47;89	P41161;B7Z7D7	ETV5_HUMAN;.	L	47;47;89;47;47;47;47	ENSP00000306894:F47L;ENSP00000413755:F47L;ENSP00000441737:F89L;ENSP00000389707:F47L;ENSP00000412171:F47L;ENSP00000405157:F47L;ENSP00000388737:F47L	ENSP00000306894:F47L	F	-	1	0	ETV5	187305974	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	8.226000	0.89785	2.147000	0.66899	0.379000	0.24179	TTT	-	pfam_ETS_PEA3_N		0.403	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	protein_coding	OTTHUMT00000344947.1	A	NM_004454	-		185823280	-1	no_errors	ENST00000537818	ensembl	human	known	74_37	missense	SNP	1.000	G	G	185823280	A	G	185823280	3	3	168	1	0	0	0	0	1	0	0	0	5284	101	4	5	1433	5	ETV5	3	185823280	Missense_Mutation	SNP	A	TCGA-K1-A3PO-01A-11D-A21Q-09	129173229	185823280	12199150	8	11891											
LY6G6C	80740	genome.wustl.edu	37	chr6	31686882	31686882	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaatgagtctcagtgcagCagccagaggccaaggccagc	14	11	1	2			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr6:31686882C>A	ENST00000375819.2	-	3	534	c.369G>T	c.(367-369)ctG>ctT	p.L123L	LY6G6C_ENST00000495859.1_Silent_p.L67L	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	123						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CTCAGTGCAGCAGCCAGAGGC	0.612																																																	0								ENSG00000204421						72	65	68					6																	31686882		2203	4300	6503	LY6G6C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.369G>T	6.37:g.31686882C>A		Somatic	0	26	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q5SRS8|Q8IY94	Silent	SNP							NULL	p.L123	ENST00000375819.2	37	c.369	CCDS4714.1	6																																																																																			-	NULL		0.612	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6C	protein_coding	OTTHUMT00000076530.2	C		-		31686882	-1	no_errors	ENST00000375819	ensembl	human	known	74_37	silent	SNP	0.964	A	A	31686882	C	A	31686882	2	1	168	1	0	0	0	0	0	0	0	1	9096	697	25	3		3	LY6G6C	6	31686882	Silent	SNP	C	TCGA-K1-A3PO-01A-11D-A21Q-09		31686882	139428185	9	11892											
SCML4	256380	genome.wustl.edu	37	chr6	108042142	108042142	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcggaggtgtccacgctGtagcggttcatgcccacagg	16	11	1	0			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr6:108042142G>T	ENST00000369020.3	-	6	983	c.738C>A	c.(736-738)taC>taA	p.Y246*	SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Nonsense_Mutation_p.Y4*|SCML4_ENST00000369021.3_Nonsense_Mutation_p.Y217*|SCML4_ENST00000369022.2_Nonsense_Mutation_p.Y188*	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TGTCCACGCTGTAGCGGTTCA	0.552																																																	0								ENSG00000146285						75	72	73					6																	108042142		2203	4300	6503	SCML4	SO:0001587	stop_gained	0			-	HGNC		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.738C>A	6.37:g.108042142G>T	ENSP00000358016:p.Tyr246*	Somatic	0	46	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Nonsense_Mutation	SNP							pfam_DUF3588	p.Y217*	ENST00000369020.3	37	c.651	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354979	0.82243	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	.	.	.	5.34	1.62	0.23740	.	0.490245	0.21514	N	0.073339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6127	0.39672	0.2857:0.0:0.7143:0.0	.	.	.	.	X	188;4;246;217	.	ENSP00000358016:Y246X	Y	-	3	2	SCML4	108148835	0.992000	0.36948	0.051000	0.19133	0.074000	0.17049	2.208000	0.42797	0.115000	0.18071	-0.145000	0.13849	TAC	-	NULL		0.552	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	protein_coding	OTTHUMT00000041700.3	G	XM_171128	-		108042142	-1	no_errors	ENST00000369021	ensembl	human	known	74_37	nonsense	SNP	0.512	T	T	108042142	G	T	108042142	4	4	168	1	0	0	0	0	0	1	0	0	13919	1372	48	3	518	3	SCML4	6	108042142	Nonsense_Mutation	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09	76355260	108042142	63072925	10	11893											
MYB	4602	genome.wustl.edu	37	chr6	135518225	135518225	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaatgggactaaacctGcaggagaacctagcccaagg	13	10	0	1			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr6:135518225G>A	ENST00000367814.4	+	9	1389				MYB_ENST00000533624.1_Intron|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000341911.5_Missense_Mutation_p.A444T|MYB_ENST00000534121.1_Missense_Mutation_p.A428T|MYB_ENST00000531845.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.A441T|MYB_ENST00000316528.8_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						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)		GACTAAACCTGCAGGAGAACC	0.478			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0								ENSG00000118513						159	143	148					6																	135518225		1568	3582	5150	MYB	SO:0001627	intron_variant	0			-	HGNC		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.1203+1085G>A	6.37:g.135518225G>A		Somatic	0	38	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP							pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A444T	ENST00000367814.4	37	c.1330	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019168	0.02078	.	.	ENSG00000118513	ENST00000341911;ENST00000528774;ENST00000534121	T;T;T	0.12361	2.69;2.69;2.7	5.71	4.84	0.62591	.	0.790656	0.11915	N	0.517274	T	0.02807	0.0084	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.0;0.001;0.003	T	0.37361	-0.9709	10	0.14252	T	0.57	-2.3337	7.7431	0.28853	0.1466:0.1448:0.7086:0.0	.	441;428;444	E9PNL6;E9PNA4;P10242-4	.;.;.	T	444;441;428	ENSP00000339992:A444T;ENSP00000434723:A441T;ENSP00000432851:A428T	ENSP00000339992:A444T	A	+	1	0	MYB	135559918	1.000000	0.71417	0.994000	0.49952	0.112000	0.19704	2.339000	0.43965	1.431000	0.47355	0.655000	0.94253	GCA	-	NULL		0.478	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	protein_coding	OTTHUMT00000042347.4	G		-		135518225	1	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	SNP	0.965	A	A	135518225	G	A	135518225	1	1	168	0	1	0	0	0	0	0	0	0	10009	1319	46	2		2	MYB	6	135518225	Intron	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09	27476083	135518225	35596842	11	11894											
SLC7A13	157724	genome.wustl.edu	37	chr8	87226635	87226642	+	Stop_Codon_Del	DEL	CCGACATC	CCGACATC	-													ttttttaagagtttgcacttCcgacatctattcctcagaca					rs202114931|rs56993779|rs200509135	byFrequency	TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	CCGACATC	CCGACATC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr8:87226635_87226642delCCGACATC	ENST00000297524.3	-	0	1516_1523				CTD-3118D11.3_ENST00000523112.1_RNA|SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13							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						GTTTGCACTTCCGACATCTATTCCTCAG	0.312														968	0.193291	0.0401	0.1931	5008	,	,		18381	0.3323		0.1372	False		,,,				2504	0.3149																0								ENSG00000164893			231,4025		8,215,1905						3	0		dbSNP_129	39	992,7256		76,840,3208	no	frameshift	SLC7A13	NM_138817.2		84,1055,5113	A1A1,A1R,RR		12.0272,5.4276,9.7809				1223,11281				SLC7A13	SO:0001567	stop_retained_variant	0				HGNC	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	Exception_encountered	8.37:g.87226635_87226642delCCGACATC	Exception_encountered	Somatic									WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.*471fs	ENST00000297524.3	37	c.1420_1413	CCDS34917.1	8																																																																																			-	NULL		0.312	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	protein_coding	OTTHUMT00000374704.1	CCGACATC	NM_138817			87226642	-1	no_errors	ENST00000297524	ensembl	human	known	74_37	frame_shift_del	DEL	0.020:0.001:0.000:0.000:0.000:0.001:0.001:0.000	-	-	87226642	CCGACATC	-	87226635	7	5	168	1	0	1	0	1	0	0	0	0	14703	870	30	0		0	SLC7A13	8	87226635	Stop_Codon_Del	DEL	CCGACATC	TCGA-K1-A3PO-01A-11D-A21Q-09		87226635	59137387	12	11895											
TBC1D2	55357	genome.wustl.edu	37	chr9	100961831	100961831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccgcagctgtttcatgcgGaaggggttcatgtcattgaa	13	8	3	1			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr9:100961831G>T	ENST00000375066.5	-	13	2677	c.2586C>A	c.(2584-2586)ttC>ttA	p.F862L	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.F655L|TBC1D2_ENST00000375063.1_Missense_Mutation_p.F413L	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	873					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)		GTTTCATGCGGAAGGGGTTCA	0.632																																																	0								ENSG00000095383						135	138	137					9																	100961831		2203	4300	6503	TBC1D2	SO:0001583	missense	0			-	HGNC	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	ENST00000375066.5:c.2586C>A	9.37:g.100961831G>T	ENSP00000364207:p.Phe862Leu	Somatic	0	43	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.F862L	ENST00000375066.5	37	c.2586	CCDS35080.1	9	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113382	0.37339	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.22945	1.93;1.93;1.93	5.51	-9.51	0.00581	Rab-GAP/TBC domain (1);	0.121271	0.56097	D	0.000030	T	0.19604	0.0471	M	0.69185	2.1	0.27771	N	0.943501	B;B	0.31435	0.217;0.323	B;B	0.26770	0.023;0.073	T	0.25916	-1.0118	10	0.10111	T	0.7	.	19.6391	0.95749	0.3364:0.0:0.6636:0.0	.	873;862	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	L	862;655;413	ENSP00000364207:F862L;ENSP00000341567:F655L;ENSP00000364203:F413L	ENSP00000341567:F655L	F	-	3	2	TBC1D2	100001652	0.483000	0.25956	0.027000	0.17364	0.573000	0.36030	-0.417000	0.07088	-1.987000	0.00982	-1.337000	0.01257	TTC	-	superfamily_Rab-GTPase-TBC_dom		0.632	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	TBC1D2	protein_coding	OTTHUMT00000053367.1	G	NM_018421	-		100961831	-1	no_errors	ENST00000375066	ensembl	human	known	74_37	missense	SNP	0.042	T	T	100961831	G	T	100961831	3	4	168	1	0	0	0	0	1	0	0	0	15615	1165	41	3	171	3	TBC1D2	9	100961831	Missense_Mutation	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09		100961831	40251600	13	11896											
C14orf21	161424	genome.wustl.edu	37	chr14	24769849	24769850	+	In_Frame_Ins	INS	-	-	GAGGAG													gattgctggggagtgctgcaINSgaggaggaggaggaggagga					rs113258190|rs544761261|rs71119069	byFrequency	TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr14:24769849_24769850insGAGGAG	ENST00000267425.3	+	2	576_577	c.483_484insGAGGAG	c.(484-486)gag>GAGGAGgag	p.162_162E>EEE	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_In_Frame_Ins_p.162_162E>EEE|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	162	Poly-Glu.						poly(A) RNA binding (GO:0044822)	p.A161_E162insG(1)									GGAGTGCTGCAgaggaggagga	0.579																																																	1	Insertion - In frame(1)	liver(1)						ENSG00000196943																																			NOP9	SO:0001652	inframe_insertion	0				HGNC		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.502_507dupGAGGAG	14.37:g.24769850_24769855dupGAGGAG	ENSP00000267425:p.GluGlu168dup	Somatic					0.579984500684404				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MY76|Q8IVF0|Q8TBS6	In_Frame_Ins	INS							superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.165in_frame_insEE	ENST00000267425.3	37	c.483_484	CCDS9624.1	14																																																																																			-	superfamily_ARM-type_fold		0.579	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	protein_coding	OTTHUMT00000073186.2	-				24769850	1	no_errors	ENST00000267425	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.015	GAGGAG	GAGGAG	24769850	-	GAGGAG	24769849	7	5	168	1	0	1	1	0	0	0	0	0	1771	175	7	0	489	0	C14orf21	14	24769849	In_Frame_Ins	INS	-	TCGA-K1-A3PO-01A-11D-A21Q-09		24769849	82579691	14	11897											
HYDIN	54768	genome.wustl.edu	37	chr16	70841824	70841824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatatactctccacctgCgagcgatgataggatcagga	11	9	2	2	rs199657414		TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr16:70841824C>T	ENST00000393567.2	-	86	15175	c.15025G>A	c.(15025-15027)Gca>Aca	p.A5009T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5009					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)				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)				TCTCCACCTGCGAGCGATGAT	0.582																																																	0								ENSG00000157423						87	91	90					16																	70841824		2000	4170	6170	HYDIN	SO:0001583	missense	0			-	HGNC	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.15025G>A	16.37:g.70841824C>T	ENSP00000377197:p.Ala5009Thr	Somatic	0	42	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	68	13.92	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.A5009T	ENST00000393567.2	37	c.15025	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	3.757	-0.050399	0.07407	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00792	5.69	6.17	-7.19	0.01500	.	1.715750	0.04730	N	0.420971	T	0.00412	0.0013	N	0.04090	-0.28	0.09310	N	1	B	0.21688	0.059	B	0.15870	0.014	T	0.48352	-0.9043	10	0.14252	T	0.57	.	4.1725	0.10336	0.1094:0.4365:0.1801:0.274	.	5008	F8WD23	.	T	5009;5008	ENSP00000377197:A5009T	ENSP00000313052:A5008T	A	-	1	0	HYDIN	69399325	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.186000	0.03070	-1.845000	0.01176	-0.140000	0.14226	GCA	-	NULL		0.582	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C		rs199657414		70841824	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.000	T	T	70841824	C	T	70841824	3	4	168	1	0	0	0	0	1	0	0	0	7469	768	27	1	344	1	HYDIN	16	70841824	Missense_Mutation	SNP	C	TCGA-K1-A3PO-01A-11D-A21Q-09		70841824	19512929	15	11898											
MEI1	150365	genome.wustl.edu	37	chr22	42154486	42154486	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagggagctgctcgccagaGacagtactgcatcctgctcc	13	13	0	1			TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chr22:42154486G>T	ENST00000401548.3	+	18	2109	c.2069G>T	c.(2068-2070)aGa>aTa	p.R690I	MEI1_ENST00000540833.1_Missense_Mutation_p.R430I|MEI1_ENST00000400107.1_Missense_Mutation_p.R58I|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.R8I	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCTCGCCAGAGACAGTACTGC	0.582																																																	0								ENSG00000167077						55	56	56					22																	42154486		2047	4189	6236	MEI1	SO:0001583	missense	0			-	HGNC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2069G>T	22.37:g.42154486G>T	ENSP00000384115:p.Arg690Ile	Somatic	0	34	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Missense_Mutation	SNP							superfamily_ARM-type_fold	p.R690I	ENST00000401548.3	37	c.2069	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712231	0.68730	.	.	ENSG00000167077	ENST00000401548;ENST00000540833;ENST00000400107;ENST00000540880	T;T;T;T	0.72942	3.33;3.33;-0.7;1.03	5.1	1.71	0.24356	.	0.466924	0.23354	N	0.049098	T	0.68540	0.3012	L	0.51422	1.61	0.80722	D	1	B;P;B	0.47677	0.374;0.899;0.145	B;P;B	0.51355	0.203;0.667;0.099	T	0.66224	-0.5977	10	0.62326	D	0.03	-5.3416	6.2535	0.20861	0.335:0.0:0.665:0.0	.	58;58;690	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	I	690;430;58;8	ENSP00000384115:R690I;ENSP00000444225:R430I;ENSP00000382978:R58I;ENSP00000437436:R8I	ENSP00000382978:R58I	R	+	2	0	MEI1	40484432	0.997000	0.39634	1.000000	0.80357	0.883000	0.51084	0.294000	0.19047	0.467000	0.27218	-0.424000	0.05967	AGA	-	superfamily_ARM-type_fold		0.582	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	protein_coding	OTTHUMT00000074937.3	G	NM_152513	-		42154486	1	no_errors	ENST00000401548	ensembl	human	known	74_37	missense	SNP	0.999	T	T	42154486	G	T	42154486	3	4	168	1	0	0	0	0	1	0	0	0	9467	942	33	3	2139	3	MEI1	22	42154486	Missense_Mutation	SNP	G	TCGA-K1-A3PO-01A-11D-A21Q-09		42154486	9150080	16	11899											
ARHGEF9	23229	genome.wustl.edu	37	chrX	62898428	62898429	+	Frame_Shift_Ins	INS	-	-	A													aggtggttgttacaatactcINSagagtatatccagaatccat							TCGA-K1-A3PO-01A-11D-A21Q-09	TCGA-K1-A3PO-11A-12D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11bb5036-42ef-479e-b619-46a4aa3ed5cb	b2c9d18c-b494-450b-88ea-23fd0434115e	g.chrX:62898428_62898429insA	ENST00000253401.6	-	5	1385_1386	c.585_586insT	c.(583-588)tctgagfs	p.E196fs	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Frame_Shift_Ins_p.E194fs|ARHGEF9_ENST00000433323.2_5'Flank|ARHGEF9_ENST00000374870.4_Frame_Shift_Ins_p.E94fs|ARHGEF9_ENST00000374872.1_Frame_Shift_Ins_p.E175fs|ARHGEF9_ENST00000437457.2_Frame_Shift_Ins_p.E143fs	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	196	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TTACAATACTCAGAGTATATCC	0.455																																																	0								ENSG00000131089																																			ARHGEF9	SO:0001589	frameshift_variant	0				HGNC	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.586dupT	X.37:g.62898429_62898429dupA	ENSP00000253401:p.Glu196fs	Somatic	0	25	0						WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Frame_Shift_Ins	INS							pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E195fs	ENST00000253401.6	37	c.586_585	CCDS35315.1	X																																																																																			-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.455	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	protein_coding	OTTHUMT00000056937.1	-				62898429	-1	no_errors	ENST00000253401	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.981	A	A	62898429	-	A	62898428	7	5	168	1	0	1	1	0	0	0	0	0	912	835	29	0	988	0	ARHGEF9	23	62898428	Frame_Shift_Ins	INS	-	TCGA-K1-A3PO-01A-11D-A21Q-09		62898428	92372132	17	11900											
SLC9A1	6548	genome.wustl.edu	37	chr1	27432470	27432470	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccaggaggtagcccagaGagaaggcgatggcccctcgc	15	12	0	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr1:27432470G>T	ENST00000263980.3	-	5	1966	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	SLC9A1_ENST00000374086.3_Missense_Mutation_p.S464Y|SLC9A1_ENST00000545949.1_Missense_Mutation_p.S125Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	464					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GTAGCCCAGAGAGAAGGCGAT	0.562																																																	0								ENSG00000090020						114	92	99					1																	27432470		2203	4300	6503	SLC9A1	SO:0001583	missense	0			-	HGNC	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1391C>A	1.37:g.27432470G>T	ENSP00000263980:p.Ser464Tyr	Somatic	0	23	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP							pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S464Y	ENST00000263980.3	37	c.1391	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941698	0.92526	.	.	ENSG00000090020	ENST00000263980;ENST00000545949;ENST00000374086	T;T;T	0.15139	2.45;2.45;2.45	5.11	5.11	0.69529	Cation/H+ exchanger (1);	0.102290	0.64402	D	0.000001	T	0.49012	0.1532	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.971	T	0.56402	-0.7985	10	0.87932	D	0	.	17.7526	0.88439	0.0:0.0:1.0:0.0	.	464;464	P19634-2;P19634	.;SL9A1_HUMAN	Y	464;125;464	ENSP00000263980:S464Y;ENSP00000445520:S125Y;ENSP00000363199:S464Y	ENSP00000263980:S464Y	S	-	2	0	SLC9A1	27305057	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.818000	0.86416	2.682000	0.91365	0.555000	0.69702	TCT	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.562	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	protein_coding	OTTHUMT00000012336.2	G	NM_003047	-		27432470	-1	no_errors	ENST00000263980	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27432470	G	T	27432470	3	4	169	1	0	0	0	0	1	0	0	0	14717	942	33	3	1088	3	SLC9A1	1	27432470	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		27432470	221818151	1	11901											
C1orf177	163747	genome.wustl.edu	37	chr1	55279609	55279609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgaaaacccctacagagagGatttactgggccaacctcag	9	13	1	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr1:55279609G>T	ENST00000371273.3	+	7	900	c.885G>T	c.(883-885)agG>agT	p.R295S	C1orf177_ENST00000358193.3_Missense_Mutation_p.R295S	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	295										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTACAGAGAGGATTTACTGGG	0.522																																																	0								ENSG00000162398						75	80	78					1																	55279609		2203	4300	6503	C1orf177	SO:0001583	missense	0			-	HGNC	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.885G>T	1.37:g.55279609G>T	ENSP00000360320:p.Arg295Ser	Somatic	0	44	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.53	B7WPL2|Q8N7Y9	Missense_Mutation	SNP							NULL	p.R295S	ENST00000371273.3	37	c.885	CCDS44153.1	1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968120	0.53614	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.24350	1.86;1.86	4.98	0.928	0.19443	.	0.000000	0.64402	D	0.000001	T	0.43144	0.1234	M	0.71581	2.175	0.43069	D	0.994702	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.24764	-1.0151	10	0.87932	D	0	-0.5067	6.5195	0.22266	0.4382:0.0:0.5618:0.0	.	295;295	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	S	295	ENSP00000350924:R295S;ENSP00000360320:R295S	ENSP00000350924:R295S	R	+	3	2	C1orf177	55052197	1.000000	0.71417	0.998000	0.56505	0.498000	0.33706	0.717000	0.25851	0.012000	0.14892	0.561000	0.74099	AGG	-	NULL		0.522	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	protein_coding	OTTHUMT00000027674.1	G	NM_152607	-		55279609	1	no_errors	ENST00000371273	ensembl	human	known	74_37	missense	SNP	0.999	T	T	55279609	G	T	55279609	3	4	169	1	0	0	0	0	1	0	0	0	2019	1165	41	3	911	3	C1orf177	1	55279609	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	27847139	55279609	193971012	2	11902											
THSD7B	80731	genome.wustl.edu	37	chr2	137814638	137814638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaagaaattaatccaagcgGaagaactgttctggatttta	8	5	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr2:137814638G>T	ENST00000409968.1	+	3	966	c.788G>T	c.(787-789)gGa>gTa	p.G263V	THSD7B_ENST00000543459.1_Missense_Mutation_p.G122V|THSD7B_ENST00000272643.3_Missense_Mutation_p.G263V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G232V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	263						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATCCAAGCGGAAGAACTGTT	0.393																																																	0								ENSG00000144229						120	118	119					2																	137814638		1870	4117	5987	THSD7B	SO:0001583	missense	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.788G>T	2.37:g.137814638G>T	ENSP00000387145:p.Gly263Val	Somatic	0	44	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.26		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G263V	ENST00000409968.1	37	c.788		2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688561	0.29962	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.24723	2.41;2.28;1.89;1.84	5.45	0.41	0.16387	.	0.315850	0.38381	N	0.001718	T	0.38214	0.1032	M	0.72894	2.215	0.80722	D	1	P;D	0.54397	0.929;0.966	P;D	0.68943	0.862;0.961	T	0.34229	-0.9837	10	0.16420	T	0.52	.	5.8153	0.18490	0.3522:0.1258:0.522:0.0	.	263;232	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	263;263;232;122	ENSP00000387145:G263V;ENSP00000272643:G263V;ENSP00000413841:G232V;ENSP00000443370:G122V	ENSP00000272643:G263V	G	+	2	0	THSD7B	137531108	1.000000	0.71417	0.137000	0.22149	0.145000	0.21501	2.192000	0.42649	-0.126000	0.11682	0.585000	0.79938	GGA	-	NULL		0.393	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9	-		137814638	1	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	SNP	0.910	T	T	137814638	G	T	137814638	3	4	169	1	0	0	0	0	1	0	0	0	15887	1174	41	3	701	3	THSD7B	2	137814638	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		137814638	105384735	3	11903											
TADA3	10474	genome.wustl.edu	37	chr3	9833131	9833131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgtggaactgcaaggggCagtctttcaactcactcatg	11	10	4	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr3:9833131C>T	ENST00000301964.2	-	2	578	c.20G>A	c.(19-21)tGc>tAc	p.C7Y	TADA3_ENST00000440161.1_Missense_Mutation_p.C7Y|TADA3_ENST00000492635.1_Intron|ARPC4_ENST00000498623.2_5'Flank|ARPC4_ENST00000287613.7_5'Flank|ARPC4_ENST00000433034.1_5'Flank|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000343450.2_Missense_Mutation_p.C7Y|ARPC4-TTLL3_ENST00000397256.1_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	7					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CTGCAAGGGGCAGTCTTTCAA	0.562																																																	0								ENSG00000171148						69	58	62					3																	9833131		2203	4300	6503	TADA3	SO:0001583	missense	0			-	HGNC	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.20G>A	3.37:g.9833131C>T	ENSP00000307684:p.Cys7Tyr	Somatic	0	28	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	Q6FI83|Q9UFS2	Missense_Mutation	SNP							pfam_Histone_AcTrfase_su3	p.C7Y	ENST00000301964.2	37	c.20	CCDS2583.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230430	0.79688	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450;ENST00000439043	.	.	.	4.77	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	L	0.50333	1.59	0.80722	D	1	D	0.56521	0.976	P	0.44359	0.447	T	0.49360	-0.8948	9	0.02654	T	1	-3.6403	14.1568	0.65422	0.1513:0.8487:0.0:0.0	.	7	O75528	TADA3_HUMAN	Y	7	.	ENSP00000307684:C7Y	C	-	2	0	TADA3	9808131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	0.979000	0.38497	0.561000	0.74099	TGC	-	NULL		0.562	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	protein_coding	OTTHUMT00000250236.1	C		-		9833131	-1	no_errors	ENST00000301964	ensembl	human	known	74_37	missense	SNP	1.000	T	T	9833131	C	T	9833131	3	4	169	1	0	0	0	0	1	0	0	0	15519	710	25	2	1314	2	TADA3	3	9833131	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09		9833131	188189299	4	11904											
NEK10	152110	genome.wustl.edu	37	chr3	27393955	27393955	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattctttgaaaacgctaCctgttgtttgcttgattgga	8	7	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr3:27393955C>T	ENST00000429845.2	-	4	495		c.e4+1		NEK10_ENST00000341435.5_Splice_Site			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10						positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAAACGCTACCTGTTGTTTG	0.368																																																	0								ENSG00000163491						140	117	124					3																	27393955		1568	3582	5150	NEK10	SO:0001630	splice_region_variant	0			-	HGNC	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.132+1G>A	3.37:g.27393955C>T		Somatic	0	25	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Splice_Site	SNP							-	e2+1	ENST00000429845.2	37	c.132+1		3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190036	0.78789	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750;ENST00000429845	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1584	0.89701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK10	27368959	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.829000	0.62737	2.825000	0.97269	0.655000	0.94253	.	-	-		0.368	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	protein_coding	OTTHUMT00000438156.1	C	NM_152534	-	Intron	27393955	-1	no_errors	ENST00000341435	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	27393955	C	T	27393955	5	4	169	1	0	0	0	0	0	0	1	0	10324	521	18	2	2093	2	NEK10	3	27393955	Splice_Site	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	17560824	27393955	170628475	5	11905											
UPK1B	7348	genome.wustl.edu	37	chr3	118909894	118909894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaacagccctccaaacaaTgatgaccagtggaaaaacaa	6	11	0	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr3:118909894T>C	ENST00000264234.3	+	5	560	c.411T>C	c.(409-411)aaT>aaC	p.N137N	UPK1B_ENST00000497685.1_Silent_p.N57N|UPK1B_ENST00000460625.1_Silent_p.N129N	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	137				N -> D (in Ref. 1; BAA33724). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CTCCAAACAATGATGACCAGT	0.478																																																	0								ENSG00000114638						269	266	267					3																	118909894		2203	4300	6503	UPK1B	SO:0001819	synonymous_variant	0			-	HGNC	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"Tetraspanins"	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.411T>C	3.37:g.118909894T>C		Somatic	0	54	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	O60753|Q9UIM2|Q9UNX6	Silent	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.N137	ENST00000264234.3	37	c.411	CCDS2985.1	3																																																																																			-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.478	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1B	protein_coding	OTTHUMT00000354883.2	T		-		118909894	1	no_errors	ENST00000264234	ensembl	human	known	74_37	silent	SNP	0.941	C	C	118909894	T	C	118909894	2	2	169	1	0	0	0	0	0	0	0	1	17015	1461	51	5		5	UPK1B	3	118909894	Silent	SNP	T	TCGA-K1-A42W-01A-11D-A24N-09	91515939	118909894	79112536	6	11906											
TOPBP1	11073	genome.wustl.edu	37	chr3	133337269	133337269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatcaggtactgtctgaCgagactgcctaaggaataga	11	8	2	4			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr3:133337269C>T	ENST00000260810.5	-	21	3511	c.3380G>A	c.(3379-3381)cGt>cAt	p.R1127H		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1127					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TACTGTCTGACGAGACTGCCT	0.423								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0								ENSG00000163781						136	127	130					3																	133337269		1923	4148	6071	TOPBP1	SO:0001583	missense	0			-	HGNC	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3380G>A	3.37:g.133337269C>T	ENSP00000260810:p.Arg1127His	Somatic	0	39	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	50	27.14	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.R1127H	ENST00000260810.5	37	c.3380	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753721	0.49362	.	.	ENSG00000163781	ENST00000260810	T	0.12774	2.65	6.17	5.3	0.74995	.	0.044840	0.85682	D	0.000000	T	0.13543	0.0328	L	0.45137	1.4	0.53688	D	0.999973	B;B	0.27192	0.171;0.171	B;B	0.20184	0.023;0.028	T	0.02404	-1.1164	10	0.39692	T	0.17	.	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	1040;1127	A0AV47;Q92547	.;TOPB1_HUMAN	H	1127	ENSP00000260810:R1127H	ENSP00000260810:R1127H	R	-	2	0	TOPBP1	134819959	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.430000	0.59907	2.941000	0.99782	0.655000	0.94253	CGT	-	NULL		0.423	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	protein_coding	OTTHUMT00000357254.1	C	NM_007027	-		133337269	-1	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133337269	C	T	133337269	3	4	169	1	0	0	0	0	1	0	0	0	16376	536	19	1	1220	1	TOPBP1	3	133337269	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	14427375	133337269	64685161	7	11907											
NEK1	4750	genome.wustl.edu	37	chr4	170327851	170327851	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggtgggaacatccataagGgttctgaacagctttgagag	13	7	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr4:170327851G>T	ENST00000439128.2	-	30	3826	c.3186C>A	c.(3184-3186)acC>acA	p.T1062T	NEK1_ENST00000510533.1_Silent_p.T1018T|NEK1_ENST00000512193.1_Silent_p.T993T|NEK1_ENST00000511633.1_Silent_p.T1046T|NEK1_ENST00000507142.1_Silent_p.T1090T	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1062					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATCCATAAGGGTTCTGAACA	0.328																																																	0								ENSG00000137601						86	79	81					4																	170327851		1823	4087	5910	NEK1	SO:0001819	synonymous_variant	0			-	HGNC	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3186C>A	4.37:g.170327851G>T		Somatic	0	44	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1090	ENST00000439128.2	37	c.3270	CCDS47162.1	4																																																																																			-	NULL		0.328	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	protein_coding	OTTHUMT00000363157.3	G		-		170327851	-1	no_errors	ENST00000507142	ensembl	human	known	74_37	silent	SNP	0.772	T	T	170327851	G	T	170327851	2	4	169	1	0	0	0	0	0	0	0	1	10323	1219	43	3		3	NEK1	4	170327851	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		170327851	20826425	8	11908											
C9	735	genome.wustl.edu	37	chr5	39288847	39288847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagaaattttttgtttactGatttcacaggcaattccctc	5	9	2	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr5:39288847G>A	ENST00000263408.4	-	10	1718	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	541					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTGTTTACTGATTTCACAGG	0.358																																																	0								ENSG00000113600						116	111	113					5																	39288847		2203	4300	6503	C9	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1623C>T	5.37:g.39288847G>A		Somatic	0	35	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	71	13.41		Silent	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.I541	ENST00000263408.4	37	c.1623	CCDS3929.1	5																																																																																			-	NULL		0.358	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	protein_coding	OTTHUMT00000211576.3	G		-		39288847	-1	no_errors	ENST00000263408	ensembl	human	known	74_37	silent	SNP	0.001	A	A	39288847	G	A	39288847	2	1	169	1	0	0	0	0	0	0	0	1	2445	1280	45	2		2	C9	5	39288847	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		39288847	141626413	9	11909											
CXCL14	9547	genome.wustl.edu	37	chr5	134914193	134914193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacgtcgctgtagcggAtcttgggtcccttccgggag	13	12	3	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr5:134914193A>G	ENST00000337225.5	-	2	601	c.137T>C	c.(136-138)aTc>aCc	p.I46T	CTC-321K16.1_ENST00000514446.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.I34T|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	46					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGTAGCGGATCTTGGGTCC	0.597																																																	0								ENSG00000145824						148	139	142					5																	134914193		2203	4300	6503	CXCL14	SO:0001583	missense	0			-	HGNC	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"breast and kidney"	604186	"small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.137T>C	5.37:g.134914193A>G	ENSP00000337065:p.Ile46Thr	Somatic	0	62	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	102	20.31	B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	p.I46T	ENST00000337225.5	37	c.137	CCDS4188.1	5	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724197	0.89298	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	T;T	0.09073	3.02;3.02	5.12	5.12	0.69794	Chemokine interleukin-8-like domain (2);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.01356	-1.1376	10	0.87932	D	0	1.3637	13.4744	0.61299	1.0:0.0:0.0:0.0	.	46	O95715	CXL14_HUMAN	T	46;34	ENSP00000337065:I46T;ENSP00000423783:I34T	ENSP00000337065:I46T	I	-	2	0	CXCL14	134942092	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.026000	0.88783	1.927000	0.55829	0.482000	0.46254	ATC	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom		0.597	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL14	protein_coding		A	NM_004887	-		134914193	-1	no_errors	ENST00000337225	ensembl	human	known	74_37	missense	SNP	1.000	G	G	134914193	A	G	134914193	3	3	169	1	0	0	0	0	1	0	0	0	4084	333	12	5	210	5	CXCL14	5	134914193	Missense_Mutation	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09	95625346	134914193	46001067	10	11910											
FBXO38	81545	genome.wustl.edu	37	chr5	147774413	147774413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaatgacagcagatgAaacaaaggactatatgaatc	9	5	0	6			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr5:147774413A>G	ENST00000340253.5	+	2	242	c.74A>G	c.(73-75)gAa>gGa	p.E25G	FBXO38_ENST00000513826.1_Missense_Mutation_p.E25G|FBXO38_ENST00000394370.3_Missense_Mutation_p.E25G|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.E25G			Q6PIJ6	FBX38_HUMAN	F-box protein 38	25					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGATGAAACAAAGGAC	0.383																																																	0								ENSG00000145868						178	165	170					5																	147774413		2203	4300	6503	FBXO38	SO:0001583	missense	0			-	HGNC	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.74A>G	5.37:g.147774413A>G	ENSP00000342023:p.Glu25Gly	Somatic	0	64	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	102	20.31	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP							superfamily_F-box_dom	p.E25G	ENST00000340253.5	37	c.74		5	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062369	0.76187	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.35236	1.32;1.34;1.32;1.34	5.56	5.56	0.83823	F-box domain, Skp2-like (1);	0.047993	0.85682	D	0.000000	T	0.29389	0.0732	L	0.27053	0.805	0.80722	D	1	P;P;B	0.50528	0.936;0.763;0.447	B;B;B	0.41917	0.37;0.311;0.075	T	0.10042	-1.0647	10	0.66056	D	0.02	-9.1294	14.8438	0.70246	1.0:0.0:0.0:0.0	.	25;25;25	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	G	25	ENSP00000342023:E25G;ENSP00000296701:E25G;ENSP00000377895:E25G;ENSP00000426410:E25G	ENSP00000296701:E25G	E	+	2	0	FBXO38	147754606	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.105000	0.89553	2.240000	0.73641	0.533000	0.62120	GAA	-	superfamily_F-box_dom		0.383	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	protein_coding	OTTHUMT00000252185.2	A	NM_030793	-		147774413	1	no_errors	ENST00000340253	ensembl	human	known	74_37	missense	SNP	1.000	G	G	147774413	A	G	147774413	3	3	169	1	0	0	0	0	1	0	0	0	5748	246	9	5	76	5	FBXO38	5	147774413	Missense_Mutation	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09	12860220	147774413	33140847	11	11911											
GLRA1	2741	genome.wustl.edu	37	chr5	151235943	151235943	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccagtgtcagggtgaTtctgggaagagaagggattt	17	5	2	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr5:151235943T>C	ENST00000455880.2	-	5	764	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	GLRA1_ENST00000545569.1_Splice_Site_p.I77V|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Splice_Site_p.I160V			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	160					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)			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)	GTCAGGGTGATTCTGGGAAGA	0.473																																																	0								ENSG00000145888						97	89	92					5																	151235943		2203	4300	6503	GLRA1	SO:0001630	splice_region_variant	0			-	HGNC		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.477-1A>G	5.37:g.151235943T>C		Somatic	0	25	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel	p.I160V	ENST00000455880.2	37	c.478	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333919	0.41297	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.79454	-1.27;-1.27;-1.27	4.78	4.78	0.61160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.097831	0.64402	D	0.000002	T	0.72415	0.3457	L	0.43646	1.37	0.41149	D	0.986013	B;B;B	0.22480	0.067;0.07;0.055	B;B;B	0.33121	0.158;0.158;0.098	T	0.70252	-0.4923	10	0.42905	T	0.14	.	10.7437	0.46168	0.0:0.0:0.1593:0.8407	.	160;77;160	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	V	160;160;77	ENSP00000274576:I160V;ENSP00000411593:I160V;ENSP00000445913:I77V	ENSP00000274576:I160V	I	-	1	0	GLRA1	151216136	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.585000	0.36600	1.914000	0.55421	0.477000	0.44152	ATC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.473	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	protein_coding	OTTHUMT00000373959.1	T		-	Missense_Mutation	151235943	-1	no_errors	ENST00000455880	ensembl	human	known	74_37	missense	SNP	1.000	C	C	151235943	T	C	151235943	5	2	169	1	0	0	0	0	0	0	1	0	6456	1507	52	5	915	5	GLRA1	5	151235943	Splice_Site	SNP	T	TCGA-K1-A42W-01A-11D-A24N-09	3461530	151235943	29679317	12	11912											
COL28A1	340267	genome.wustl.edu	37	chr7	7550731	7550731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttccttaccttgtcaccTtttatccctggtttaccaca	4	13	1	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr7:7550731T>C	ENST00000399429.3	-	9	1058	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	306	Collagen-like 2.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTGTCACCTTTTATCCCTG	0.378																																																	0								ENSG00000215018						138	126	130					7																	7550731		1856	4103	5959	COL28A1	SO:0001819	synonymous_variant	0			-	HGNC	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.918A>G	7.37:g.7550731T>C		Somatic	0	49	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP							pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.K306	ENST00000399429.3	37	c.918	CCDS43553.1	7																																																																																			-	NULL		0.378	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	protein_coding	OTTHUMT00000315899.1	T	NM_001037763	-		7550731	-1	no_errors	ENST00000399429	ensembl	human	known	74_37	silent	SNP	1.000	C	C	7550731	T	C	7550731	2	2	169	1	0	0	0	0	0	0	0	1	3688	1606	56	5		5	COL28A1	7	7550731	Silent	SNP	T	TCGA-K1-A42W-01A-11D-A24N-09		7550731	151587932	13	11913											
ABCA13	154664	genome.wustl.edu	37	chr7	48684278	48684278	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggatgcctagctgacttgttCaaagttatagagaacaataa	9	6	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr7:48684278C>T	ENST00000435803.1	+	61	15033	c.15009C>T	c.(15007-15009)ttC>ttT	p.F5003F	ABCA13_ENST00000544596.1_Silent_p.F733F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	5003					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGACTTGTTCAAAGTTATAG	0.323																																																	0								ENSG00000179869						69	71	70					7																	48684278		1832	4082	5914	ABCA13	SO:0001819	synonymous_variant	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.15009C>T	7.37:g.48684278C>T		Somatic	0	27	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F5003	ENST00000435803.1	37	c.15009	CCDS47584.1	7																																																																																			-	NULL		0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	C	NM_152701	-		48684278	1	no_errors	ENST00000435803	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48684278	C	T	48684278	2	4	169	1	0	0	0	0	0	0	0	1	31	825	29	2		2	ABCA13	7	48684278	Silent	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	41133547	48684278	110454385	14	11914											
EXTL3	2137	genome.wustl.edu	37	chr8	28575380	28575380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgtcactgacttttacCgcagctggaactgtgctcca	9	12	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr8:28575380C>T	ENST00000220562.4	+	3	2706	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.R218C	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	602					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGACTTTTACCGCAGCTGGAA	0.587																																																	0								ENSG00000012232						94	82	86					8																	28575380		2203	4300	6503	EXTL3	SO:0001583	missense	0			-	HGNC	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1804C>T	8.37:g.28575380C>T	ENSP00000220562:p.Arg602Cys	Somatic	0	39	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP							pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R602C	ENST00000220562.4	37	c.1804	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719325	0.48728	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95482	-3.33;-3.72	6.04	5.16	0.70880	.	0.050594	0.85682	D	0.000000	D	0.95338	0.8487	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	P	0.58391	0.838	D	0.95595	0.8658	10	0.62326	D	0.03	-22.9675	14.5566	0.68103	0.318:0.682:0.0:0.0	.	602	O43909	EXTL3_HUMAN	C	218;602	ENSP00000428691:R218C;ENSP00000220562:R602C	ENSP00000220562:R602C	R	+	1	0	EXTL3	28631299	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.262000	0.51538	1.542000	0.49330	0.563000	0.77884	CGC	-	NULL		0.587	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	protein_coding	OTTHUMT00000219987.3	C	NM_001440	-		28575380	1	no_errors	ENST00000220562	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28575380	C	T	28575380	3	4	169	1	0	0	0	0	1	0	0	0	5329	652	23	1	1806	1	EXTL3	8	28575380	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09		28575380	117788642	15	11915											
SPATC1	375686	genome.wustl.edu	37	chr8	145095574	145095574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctatcggagccatggGcacacctgctcccaagacgg	10	17	0	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr8:145095574G>A	ENST00000377470.3	+	3	974	c.872G>A	c.(871-873)gGc>gAc	p.G291D	SPATC1_ENST00000447830.2_Missense_Mutation_p.G291D	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	291						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAGCCATGGGCACACCTGCT	0.647																																																	0								ENSG00000186583						227	111	151					8																	145095574		2203	4300	6503	SPATC1	SO:0001583	missense	0			-	HGNC	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.872G>A	8.37:g.145095574G>A	ENSP00000366690:p.Gly291Asp	Somatic	0	26	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP							NULL	p.G291D	ENST00000377470.3	37	c.872	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479599	0.26511	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.53640	0.61	3.88	2.99	0.34606	.	1.391060	0.05253	N	0.514240	T	0.51058	0.1652	L	0.54323	1.7	0.09310	N	1	P;P	0.51351	0.884;0.944	P;P	0.47470	0.484;0.548	T	0.33777	-0.9855	10	0.34782	T	0.22	.	9.0251	0.36224	0.0:0.3416:0.6584:0.0	.	291;291	B4DWW9;Q76KD6	.;SPERI_HUMAN	D	291	ENSP00000366690:G291D	ENSP00000366690:G291D	G	+	2	0	SPATC1	145167562	0.008000	0.16893	0.017000	0.16124	0.002000	0.02628	0.178000	0.16820	0.727000	0.32360	0.650000	0.86243	GGC	-	NULL		0.647	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	protein_coding	OTTHUMT00000346926.1	G	NM_198572	-		145095574	1	no_errors	ENST00000377470	ensembl	human	known	74_37	missense	SNP	0.022	A	A	145095574	G	A	145095574	3	1	169	1	0	0	0	0	1	0	0	0	15024	1203	42	2	882	2	SPATC1	8	145095574	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	116520194	145095574	1268448	16	11916											
TRPM6	140803	genome.wustl.edu	37	chr9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtaggtcatgatgtagcGatagcggttgtatttccaca	13	6	1	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr9:77390934G>A	ENST00000360774.1	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000451710.3_Missense_Mutation_p.R1090C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGATGTAGCGATAGCGGTTG	0.493																																																	0								ENSG00000119121						118	127	124					9																	77390934		2203	4300	6503	TRPM6	SO:0001583	missense	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3268C>T	9.37:g.77390934G>A	ENSP00000354006:p.Arg1090Cys	Somatic	0	58	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	15	73.21	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.R1090C	ENST00000360774.1	37	c.3268	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.120843	0.94385	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55588	0.6;0.6;0.6;0.6;0.51	5.76	5.76	0.90799	.	0.046412	0.85682	D	0.000000	T	0.72779	0.3503	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67900	0.932;0.931;0.954	T	0.74426	-0.3669	10	0.87932	D	0	.	19.9561	0.97218	0.0:0.0:1.0:0.0	.	1090;1085;1085	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	C	1090;1090;1085;1085;1090;753;753	ENSP00000354006:R1090C;ENSP00000407341:R1090C;ENSP00000396672:R1085C;ENSP00000354962:R1085C;ENSP00000366060:R1090C	ENSP00000309693:R753C	R	-	1	0	TRPM6	76580754	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.827000	0.86722	2.725000	0.93324	0.591000	0.81541	CGC	-	NULL		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	G	NM_017662	-		77390934	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77390934	G	A	77390934	3	1	169	1	0	0	0	0	1	0	0	0	16597	1058	37	1	2864	1	TRPM6	9	77390934	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		77390934	63822497	17	11917											
MUC6	4588	genome.wustl.edu	37	chr11	1031025	1031025	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcgtccagcttctggagGgcagcaaacttgtggggttc	16	9	1	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr11:1031025G>T	ENST00000421673.2	-	6	656	c.606C>A	c.(604-606)gcC>gcA	p.A202A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	202	VWFD 1. {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)		GCTTCTGGAGGGCAGCAAACT	0.682																																																	0								ENSG00000184956						36	42	40					11																	1031025		1927	4109	6036	MUC6	SO:0001819	synonymous_variant	0			-	HGNC	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.606C>A	11.37:g.1031025G>T		Somatic	0	48	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A202	ENST00000421673.2	37	c.606	CCDS44513.1	11																																																																																			-	NULL		0.682	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	G	XM_290540	-		1031025	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	silent	SNP	0.015	T	T	1031025	G	T	1031025	2	4	169	1	0	0	0	0	0	0	0	1	9982	1219	43	3		3	MUC6	11	1031025	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		1031025	133975491	18	11918											
PATE1	160065	genome.wustl.edu	37	chr11	125616250	125616250	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctgctctgctgctttagGggtgagtccctagggttgac	13	10	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr11:125616250G>T	ENST00000305738.5	+	1	63	c.51G>T	c.(49-51)agG>agT	p.R17S	PATE1_ENST00000437148.2_Splice_Site_p.R17S	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	17						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						gctgctttaggGGTGAGTCCC	0.542																																																	0								ENSG00000171053						143	127	133					11																	125616250		2201	4299	6500	PATE1	SO:0001630	splice_region_variant	0			-	HGNC	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"PATE family"	24664	protein-coding gene	gene with protein product	"expressed in prostate and testis"	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.52+1G>T	11.37:g.125616250G>T		Somatic	0	53	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q3KNX2	Missense_Mutation	SNP							NULL	p.R17S	ENST00000305738.5	37	c.51	CCDS8464.1	11	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633943	0.03584	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.30182	1.54;1.54	3.94	-1.13	0.09775	.	0.494590	0.15333	N	0.267881	T	0.15955	0.0384	N	0.24115	0.695	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.21151	0.013;0.033	T	0.17623	-1.0363	10	0.87932	D	0	-23.2897	2.3595	0.04304	0.3083:0.0:0.2926:0.3991	.	17;17	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	S	17	ENSP00000307164:R17S;ENSP00000396056:R17S	ENSP00000307164:R17S	R	+	3	2	PATE1	125121460	0.017000	0.18338	0.055000	0.19348	0.116000	0.19942	-0.248000	0.08854	-0.201000	0.10284	-1.087000	0.02190	AGG	-	NULL		0.542	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PATE1	protein_coding	OTTHUMT00000386726.2	G	NM_138294	-	Missense_Mutation	125616250	1	no_errors	ENST00000305738	ensembl	human	known	74_37	missense	SNP	0.107	T	T	125616250	G	T	125616250	5	4	169	1	0	0	0	0	0	0	1	0	11475	1246	43	3	53	3	PATE1	11	125616250	Splice_Site	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	124585225	125616250	9390266	19	11919											
GXYLT1	283464	genome.wustl.edu	37	chr12	42512805	42512805	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtctcaaatacttactctGcctttaaagctatgatgtag	6	8	2	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr12:42512805G>T	ENST00000398675.3	-	3	715	c.483C>A	c.(481-483)ggC>ggA	p.G161G	GXYLT1_ENST00000280876.6_Silent_p.G130G	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	161					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						TACTTACTCTGCCTTTAAAGC	0.313																																																	0								ENSG00000151233						64	57	59					12																	42512805		1845	4085	5930	GXYLT1	SO:0001819	synonymous_variant	0			-	HGNC	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.483C>A	12.37:g.42512805G>T		Somatic	0	49	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	53	14.52	B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP							pfam_Glyco_trans_8	p.G161	ENST00000398675.3	37	c.483	CCDS41772.1	12																																																																																			-	NULL		0.313	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	protein_coding	OTTHUMT00000403778.1	G	XM_290597	-		42512805	-1	no_errors	ENST00000398675	ensembl	human	known	74_37	silent	SNP	0.962	T	T	42512805	G	T	42512805	2	4	169	1	0	0	0	0	0	0	0	1	6905	1306	46	3		3	GXYLT1	12	42512805	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		42512805	91339090	20	11920											
ACTR6	64431	genome.wustl.edu	37	chr12	100613903	100613903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactccaacagattatgatgTttctgttgtgctgcctgaaa	8	8	1	3			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr12:100613903T>C	ENST00000188312.2	+	10	1805	c.1040T>C	c.(1039-1041)gTt>gCt	p.V347A	ACTR6_ENST00000551617.1_Missense_Mutation_p.V245A|ACTR6_ENST00000546902.1_Missense_Mutation_p.V265A|ACTR6_ENST00000552376.1_Missense_Mutation_p.V327A	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	347						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GATTATGATGTTTCTGTTGTG	0.383																																																	0								ENSG00000075089						145	133	137					12																	100613903		2203	4300	6503	ACTR6	SO:0001583	missense	0			-	HGNC	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1040T>C	12.37:g.100613903T>C	ENSP00000188312:p.Val347Ala	Somatic	0	33	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	23	48.89	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related	p.V347A	ENST00000188312.2	37	c.1040	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952410	0.92660	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.95447	-3.71;-3.71;3.0;3.0	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.64830	0.992;0.992;0.992;0.994	P;P;D;D	0.67900	0.874;0.874;0.923;0.954	D	0.98344	1.0540	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	265;245;327;347	G3V1Y1;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	A	347;265;327;245	ENSP00000188312:V347A;ENSP00000448669:V265A;ENSP00000447237:V327A;ENSP00000448356:V245A	ENSP00000188312:V347A	V	+	2	0	ACTR6	99138034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.417000	0.80156	2.279000	0.76181	0.533000	0.62120	GTT	-	pfam_Actin-related,smart_Actin-related		0.383	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	protein_coding	OTTHUMT00000408159.1	T	NM_022496	-		100613903	1	no_errors	ENST00000188312	ensembl	human	known	74_37	missense	SNP	1.000	C	C	100613903	T	C	100613903	3	2	169	1	0	0	0	0	1	0	0	0	216	1725	60	5	1078	5	ACTR6	12	100613903	Missense_Mutation	SNP	T	TCGA-K1-A42W-01A-11D-A24N-09	58101098	100613903	33237992	21	11921											
TCP11L2	255394	genome.wustl.edu	37	chr12	106729591	106729591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggattatcagaaaaAagaattaccagaggtgagtg	12	4	1	4			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr12:106729591A>C	ENST00000299045.3	+	7	1121	c.947A>C	c.(946-948)aAa>aCa	p.K316T		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	316										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TATCAGAAAAAAGAATTACCA	0.388																																																	0								ENSG00000166046						69	74	72					12																	106729591		2203	4300	6503	TCP11L2	SO:0001583	missense	0			-	HGNC	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.947A>C	12.37:g.106729591A>C	ENSP00000299045:p.Lys316Thr	Somatic	0	25	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	B2RA65|G3V1Y9	Missense_Mutation	SNP							pfam_Tcp11	p.K316T	ENST00000299045.3	37	c.947	CCDS9104.1	12	.	.	.	.	.	.	.	.	.	.	A	13.17	2.155780	0.38021	.	.	ENSG00000166046	ENST00000299045	T	0.11712	2.75	5.9	3.54	0.40534	.	0.436773	0.28889	N	0.013805	T	0.10208	0.0250	N	0.24115	0.695	0.80722	D	1	B	0.34399	0.452	B	0.43155	0.41	T	0.32613	-0.9900	10	0.25751	T	0.34	-1.7492	10.3366	0.43854	0.8659:0.0:0.1341:0.0	.	316	Q8N4U5	T11L2_HUMAN	T	316	ENSP00000299045:K316T	ENSP00000299045:K316T	K	+	2	0	TCP11L2	105253721	0.998000	0.40836	0.991000	0.47740	0.996000	0.88848	2.989000	0.49393	1.067000	0.40740	0.460000	0.39030	AAA	-	pfam_Tcp11		0.388	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	protein_coding	OTTHUMT00000407206.1	A	NM_152772	-		106729591	1	no_errors	ENST00000299045	ensembl	human	known	74_37	missense	SNP	0.993	C	C	106729591	A	C	106729591	3	2	169	1	0	0	0	0	1	0	0	0	15722	14	1	5	969	5	TCP11L2	12	106729591	Missense_Mutation	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09	6115688	106729591	27122304	22	11922											
FOXN4	121643	genome.wustl.edu	37	chr12	109725976	109725976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcaggtcggccaccccaGccaaggcacctgccggagag	13	16	0	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr12:109725976G>T	ENST00000299162.5	-	4	346	c.242C>A	c.(241-243)gCt>gAt	p.A81D	FOXN4_ENST00000355216.1_Intron	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	81	Pro-rich.				amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						GGCCACCCCAGCCAAGGCACC	0.662																																																	0								ENSG00000139445						4	6	5					12																	109725976		659	1526	2185	FOXN4	SO:0001583	missense	0			-	HGNC	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.242C>A	12.37:g.109725976G>T	ENSP00000299162:p.Ala81Asp	Somatic	0	57	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q6ZMR4|Q96NZ0	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A81D	ENST00000299162.5	37	c.242	CCDS9126.2	12	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685564	0.29962	.	.	ENSG00000139445	ENST00000266856;ENST00000299162	D	0.93763	-3.28	4.64	2.74	0.32292	.	5.005580	0.04733	N	0.421475	D	0.90947	0.7154	L	0.50333	1.59	0.36133	D	0.846264	B	0.06786	0.001	B	0.04013	0.001	T	0.81250	-0.1018	10	0.72032	D	0.01	-24.3012	6.6685	0.23056	0.0942:0.0:0.7296:0.1762	.	81	Q96NZ1	FOXN4_HUMAN	D	81	ENSP00000299162:A81D	ENSP00000266856:A81D	A	-	2	0	FOXN4	108210359	0.973000	0.33851	0.462000	0.27118	0.575000	0.36095	1.810000	0.38932	0.457000	0.26962	0.561000	0.74099	GCT	-	NULL		0.662	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN4	protein_coding	OTTHUMT00000328306.1	G	XM_062735	-		109725976	-1	no_errors	ENST00000299162	ensembl	human	known	74_37	missense	SNP	0.808	T	T	109725976	G	T	109725976	3	4	169	1	0	0	0	0	1	0	0	0	6024	971	34	3	1339	3	FOXN4	12	109725976	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	2996385	109725976	24125919	23	11923											
TBX3	6926	genome.wustl.edu	37	chr12	115112627	115112627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgtcgctctcaccctcGctgggacataaatctaccac	8	16	2	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr12:115112627G>A	ENST00000257566.3	-	7	1502	c.1113C>T	c.(1111-1113)agC>agT	p.S371S	TBX3_ENST00000349155.2_Silent_p.S351S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	371					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCTCACCCTCGCTGGGACATA	0.602																																																	0								ENSG00000135111						7	8	8					12																	115112627		2150	4185	6335	TBX3	SO:0001819	synonymous_variant	0			-	HGNC	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1113C>T	12.37:g.115112627G>A		Somatic	0	36	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q8TB20|Q9UKF8	Silent	SNP							pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S371	ENST00000257566.3	37	c.1113	CCDS9176.1	12																																																																																			-	pfam_TBX		0.602	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	protein_coding	OTTHUMT00000404947.2	G	NM_016569, NM_005996	-		115112627	-1	no_errors	ENST00000257566	ensembl	human	known	74_37	silent	SNP	1.000	A	A	115112627	G	A	115112627	2	1	169	1	0	0	0	0	0	0	0	1	15666	1078	38	1		1	TBX3	12	115112627	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	5386651	115112627	18739268	24	11924											
RIMBP2	23504	genome.wustl.edu	37	chr12	130927134	130927134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcgtgcttgccaaccGcgactcgttgtcctgcacaa	9	17	0	0	rs549158714		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr12:130927134G>A	ENST00000261655.4	-	8	875	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	RIMBP2_ENST00000535703.1_Missense_Mutation_p.R146W|RIMBP2_ENST00000536002.1_Missense_Mutation_p.R146W	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	238					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTTGCCAACCGCGACTCGTTG	0.587													G|||	1	0.000199681	0	0	5008	,	,		18516	0		0	False		,,,				2504	0.001																0								ENSG00000060709						130	129	129					12																	130927134		2203	4300	6503	RIMBP2	SO:0001583	missense	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.712C>T	12.37:g.130927134G>A	ENSP00000261655:p.Arg238Trp	Somatic	0	53	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	22.95	Q96ID2	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.R238W	ENST00000261655.4	37	c.712	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885658	0.51908	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30448	1.53;1.53;1.53	4.53	3.61	0.41365	Src homology-3 domain (1);	0.538961	0.20115	N	0.098937	T	0.52837	0.1759	M	0.68317	2.08	0.42057	D	0.991146	D;D	0.89917	0.998;1.0	D;D	0.83275	0.928;0.996	T	0.55611	-0.8114	10	0.66056	D	0.02	-24.1815	13.5684	0.61832	0.0:0.0:0.8432:0.1568	.	146;238	O15034-2;O15034	.;RIMB2_HUMAN	W	238;146;146;146	ENSP00000261655:R238W;ENSP00000440347:R146W;ENSP00000439159:R146W	ENSP00000261655:R238W	R	-	1	2	RIMBP2	129493087	1.000000	0.71417	0.020000	0.16555	0.317000	0.28152	5.216000	0.65246	0.840000	0.34995	0.561000	0.74099	CGG	-	superfamily_SH3_domain		0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	-		130927134	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	SNP	0.780	A	A	130927134	G	A	130927134	3	1	169	1	0	0	0	0	1	0	0	0	13371	1086	38	1	2494	1	RIMBP2	12	130927134	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	15814507	130927134	2924761	25	11925											
COL4A2	1284	genome.wustl.edu	37	chr13	111114516	111114516	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagcaaaaggagattccaGaacaatcacaaccaaaggtg	10	8	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr13:111114516G>A	ENST00000360467.5	+	23	1958	c.1652G>A	c.(1651-1653)aGa>aAa	p.R551K	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	551	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGATTCCAGAACAATCACA	0.532																																																	0								ENSG00000134871						75	80	78					13																	111114516		1968	4157	6125	COL4A2	SO:0001583	missense	0			-	HGNC	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1652G>A	13.37:g.111114516G>A	ENSP00000353654:p.Arg551Lys	Somatic	0	59	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R551K	ENST00000360467.5	37	c.1652	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	7.925	0.739414	0.15642	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93189	-3.18	5.48	4.62	0.57501	.	0.243677	0.29707	N	0.011408	D	0.84920	0.5579	N	0.08118	0	0.09310	N	1	P	0.40144	0.704	B	0.42462	0.388	T	0.77373	-0.2612	10	0.51188	T	0.08	.	6.3305	0.21266	0.0904:0.0:0.726:0.1836	.	551	P08572	CO4A2_HUMAN	K	551	ENSP00000353654:R551K	ENSP00000257309:R551K	R	+	2	0	COL4A2	109912517	0.007000	0.16637	0.016000	0.15963	0.535000	0.34838	1.159000	0.31749	2.576000	0.86940	0.655000	0.94253	AGA	-	NULL		0.532	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	G	NM_001846	-		111114516	1	no_errors	ENST00000360467	ensembl	human	known	74_37	missense	SNP	0.003	A	A	111114516	G	A	111114516	3	1	169	1	0	0	0	0	1	0	0	0	3692	942	33	2	1738	2	COL4A2	13	111114516	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		111114516	4055362	26	11926											
SFRS5	6430	genome.wustl.edu	37	chr14	70234913	70234930	+	In_Frame_Del	DEL	GCGGCCAGGGAGAAGGAC	GCGGCCAGGGAGAAGGAC	-													tcatcgggagactaaatccaGcggccagggagaaggacgtg					rs149960633		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	GCGGCCAGGGAGAAGGAC	GCGGCCAGGGAGAAGGAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr14:70234913_70234930delGCGGCCAGGGAGAAGGAC	ENST00000553521.1	+	3	1493_1510	c.40_57delGCGGCCAGGGAGAAGGAC	c.(40-57)gcggccagggagaaggacdel	p.AAREKD14del	SRSF5_ENST00000557154.1_In_Frame_Del_p.AAREKD14del|SRSF5_ENST00000553548.1_In_Frame_Del_p.AAREKD14del|SRSF5_ENST00000554021.1_In_Frame_Del_p.AAREKD14del|SRSF5_ENST00000553635.1_In_Frame_Del_p.AAREKD14del|SRSF5_ENST00000394366.2_In_Frame_Del_p.AAREKD14del|SRSF5_ENST00000555349.1_In_Frame_Del_p.AAREKD14del|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_In_Frame_Del_p.AAREKD14del			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	14	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						ACTAAATCCAGCGGCCAGGGAGAAGGACGTGGAAAGAT	0.427																																																	0								ENSG00000100650																																			SRSF5	SO:0001651	inframe_deletion	0				HGNC	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.40_57delGCGGCCAGGGAGAAGGAC	14.37:g.70234913_70234930delGCGGCCAGGGAGAAGGAC	ENSP00000452123:p.Ala14_Asp19del	Somatic					0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O14797|Q16662|Q49AD6|Q6FGE0	In_Frame_Del	DEL							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.AAREKD14in_frame_del	ENST00000553521.1	37	c.40_57	CCDS32109.1	14																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.427	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	protein_coding	OTTHUMT00000412456.1	GCGGCCAGGGAGAAGGAC	NM_001039465			70234930	1	no_errors	ENST00000451983	ensembl	human	known	74_37	in_frame_del	DEL	0.897:0.990:0.986:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000	-	-	70234930	GCGGCCAGGGAGAAGGAC	-	70234913	7	5	169	1	0	1	0	1	0	0	0	0	14188	971	34	0	42	0	SFRS5	14	70234913	In_Frame_Del	DEL	GCGGCCAGGGAGAAGGAC	TCGA-K1-A42W-01A-11D-A24N-09		70234913	37114627	27	11927											
MTMR10	54893	genome.wustl.edu	37	chr15	31267168	31267168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatacatgttaaagggacAtcgtgttcaccaagaagaag	9	7	2	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr15:31267168A>G	ENST00000435680.1	-	4	394	c.297T>C	c.(295-297)gaT>gaC	p.D99D	MTMR10_ENST00000563714.1_Silent_p.D17D|MTMR10_ENST00000314404.8_5'Flank|MTMR10_ENST00000425768.1_Silent_p.D99D	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	99							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TTAAAGGGACATCGTGTTCAC	0.318																																																	0								ENSG00000166912						69	64	65					15																	31267168		1832	4077	5909	MTMR10	SO:0001819	synonymous_variant	0			-	HGNC	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.297T>C	15.37:g.31267168A>G		Somatic	0	51	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	38	35.59	Q6P4Q6	Silent	SNP							pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.D99	ENST00000435680.1	37	c.297	CCDS45204.1	15																																																																																			-	NULL		0.318	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	protein_coding	OTTHUMT00000430747.1	A	NM_017762	-		31267168	-1	no_errors	ENST00000435680	ensembl	human	known	74_37	silent	SNP	1.000	G	G	31267168	A	G	31267168	2	3	169	1	0	0	0	0	0	0	0	1	9941	214	8	5		5	MTMR10	15	31267168	Silent	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09		31267168	71264224	28	11928											
USP8	9101	genome.wustl.edu	37	chr15	50784950	50784950	+	Missense_Mutation	SNP	C	C	T													ggctttctgcttctcagattCggaacctcaatcctgttttt					rs78143971	byFrequency	TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr15:50784950C>T	ENST00000396444.3	+	15	2625	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	USP8_ENST00000433963.1_Missense_Mutation_p.R763W|USP8_ENST00000307179.4_Missense_Mutation_p.R763W|USP8_ENST00000425032.3_Missense_Mutation_p.R657W|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	763					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTCAGATTCGGAACCTCAA	0.403																																																	0								ENSG00000138592						133	120	125					15																	50784950		2196	4294	6490	USP8	SO:0001583	missense	0			-	HGNC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2287C>T	15.37:g.50784950C>T	ENSP00000379721:p.Arg763Trp	Somatic	0	31	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R763W	ENST00000396444.3	37	c.2287	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628030	0.87560	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.21031	2.03;2.03;2.03;2.07	5.22	5.22	0.72569	.	0.556073	0.19308	N	0.117479	T	0.32255	0.0823	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61477	0.889;0.889	T	0.02320	-1.1177	10	0.56958	D	0.05	-12.0933	15.5388	0.76024	0.1385:0.8615:0.0:0.0	.	657;763	B4DKA8;P40818	.;UBP8_HUMAN	W	763;763;763;657	ENSP00000379721:R763W;ENSP00000405537:R763W;ENSP00000302239:R763W;ENSP00000412682:R657W	ENSP00000302239:R763W	R	+	1	2	USP8	48572242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.593000	0.87608	0.650000	0.86243	CGG	-	NULL		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	C	NM_005154	rs78143971		50784950	1	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50784950	C	T	50784950	3	4	169	1	0	0	0	0	1	0	0	0	17096	875	31	1	2341	1	USP8	15	50784950	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	19517782	50784950	51746442	29	11929	183	2									
USP8	9101	genome.wustl.edu	37	chr15	50784955	50784955	+	Missense_Mutation	SNP	C	C	A													tctgcttctcagattcggaaCctcaatcctgtttttggagg					rs74840283		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr15:50784955C>A	ENST00000396444.3	+	15	2630	c.2292C>A	c.(2290-2292)aaC>aaA	p.N764K	USP8_ENST00000433963.1_Missense_Mutation_p.N764K|USP8_ENST00000307179.4_Missense_Mutation_p.N764K|USP8_ENST00000425032.3_Missense_Mutation_p.N658K|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	764					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATTCGGAACCTCAATCCTG	0.408																																																	0								ENSG00000138592						135	121	126					15																	50784955		2196	4294	6490	USP8	SO:0001583	missense	0			-	HGNC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2292C>A	15.37:g.50784955C>A	ENSP00000379721:p.Asn764Lys	Somatic	0	29	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.N764K	ENST00000396444.3	37	c.2292	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650128	0.67472	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18174	2.23;2.23;2.23;2.27	5.22	2.26	0.28386	.	0.395808	0.31859	N	0.006953	T	0.09069	0.0224	N	0.24115	0.695	0.48696	D	0.999694	B;B	0.26672	0.083;0.156	B;B	0.21546	0.035;0.03	T	0.19224	-1.0312	10	0.10902	T	0.67	-18.6446	9.071	0.36493	0.0:0.5813:0.0:0.4187	.	658;764	B4DKA8;P40818	.;UBP8_HUMAN	K	764;764;764;658	ENSP00000379721:N764K;ENSP00000405537:N764K;ENSP00000302239:N764K;ENSP00000412682:N658K	ENSP00000302239:N764K	N	+	3	2	USP8	48572247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.755000	0.26405	0.695000	0.31675	0.650000	0.86243	AAC	-	NULL		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	C	NM_005154	rs74840283		50784955	1	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50784955	C	A	50784955	3	1	169	1	0	0	0	0	1	0	0	0	17096	506	18	3	2346	3	USP8	15	50784955	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	5	50784955	51746437	30	11930	183	2									
PKMYT1	9088	genome.wustl.edu	37	chr16	3026988	3026988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgccactcagaggtgGcggggtgccctccgtgggca	20	11	1	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr16:3026988G>T	ENST00000262300.8	-	3	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P10T|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P10T|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P19T|PKMYT1_ENST00000431515.2_Missense_Mutation_p.P19T	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	19	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTCAGAGGTGGCGGGGTGCCC	0.667																																																	0								ENSG00000127564						11	13	12					16																	3026988		2185	4273	6458	PKMYT1	SO:0001583	missense	0			-	HGNC	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.55C>A	16.37:g.3026988G>T	ENSP00000262300:p.Pro19Thr	Somatic	0	51	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom	p.P19T	ENST00000262300.8	37	c.55	CCDS10486.1	16	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573717	0.28092	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.61510	0.1;0.18;0.19;0.24	5.68	5.68	0.88126	.	0.067088	0.64402	D	0.000019	T	0.46718	0.1407	L	0.43152	1.355	0.35836	D	0.82566	B;P;P	0.43750	0.402;0.816;0.537	B;B;B	0.35470	0.1;0.152;0.203	T	0.56360	-0.7992	10	0.25106	T	0.35	-13.5316	15.2906	0.73862	0.0:0.0:1.0:0.0	.	10;19;19	A6NHV6;Q99640;F8W164	.;PMYT1_HUMAN;.	T	19;19;19;19;10	ENSP00000392855:P19T;ENSP00000262300:P19T;ENSP00000397739:P19T;ENSP00000371675:P10T	ENSP00000262300:P19T	P	-	1	0	PKMYT1	2966989	0.803000	0.28956	0.664000	0.29753	0.232000	0.25224	1.259000	0.32956	2.666000	0.90696	0.655000	0.94253	CCA	-	pirsf_Tyr/Thr_kinase_Cdc2_inhib		0.667	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	protein_coding	OTTHUMT00000250963.2	G	NM_004203	-		3026988	-1	no_errors	ENST00000262300	ensembl	human	known	74_37	missense	SNP	0.802	T	T	3026988	G	T	3026988	3	4	169	1	0	0	0	0	1	0	0	0	11980	1203	42	3	1510	3	PKMYT1	16	3026988	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		3026988	87327765	31	11931											
ALG1	56052	genome.wustl.edu	37	chr16	5125535	5125536	+	Frame_Shift_Ins	INS	-	-	GA													ccctcgttctgctggccaagINStggtgagagtctaggaagag							TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr16:5125535_5125536insGA	ENST00000262374.5	+	4	568_569	c.537_538insGA	c.(538-540)tggfs	p.W180fs	ALG1_ENST00000544428.1_Frame_Shift_Ins_p.W69fs|ALG1_ENST00000588623.1_Frame_Shift_Ins_p.W69fs	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	180					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TGCTGGCCAAGTGGTGAGAGTC	0.545																																																	0								ENSG00000033011																																			ALG1	SO:0001589	frameshift_variant	0				HGNC	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	Exception_encountered	16.37:g.5125535_5125536insGA	ENSP00000262374:p.Trp180fs	Somatic	0	52	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Frame_Shift_Ins	INS							pfam_Glyco_trans_1	p.W179fs	ENST00000262374.5	37	c.537_538	CCDS10528.1	16																																																																																			-	NULL		0.545	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	protein_coding	OTTHUMT00000251716.2	-	NM_019109			5125536	1	no_errors	ENST00000262374	ensembl	human	known	74_37	frame_shift_ins	INS	0.998:1.000	GA	GA	5125536	-	GA	5125535	7	5	169	1	0	1	1	0	0	0	0	0	510	1020	36	0	551	0	ALG1	16	5125535	Frame_Shift_Ins	INS	-	TCGA-K1-A42W-01A-11D-A24N-09	2098547	5125535	85229218	32	11932	184	2									
ALG1	56052	genome.wustl.edu	37	chr16	5125537	5125538	+	Splice_Site	INS	-	-	A													ctcgttctgctggccaagtgINSgtgagagtctaggaagaggg							TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr16:5125537_5125538insA	ENST00000262374.5	+	4	570	c.539_539insA	c.(538-540)tgg>tAgg	p.W180fs	ALG1_ENST00000544428.1_Splice_Site_p.W69fs|ALG1_ENST00000588623.1_Splice_Site_p.W69fs	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	180					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CTGGCCAAGTGGTGAGAGTCTA	0.545																																																	0								ENSG00000033011																																			ALG1	SO:0001630	splice_region_variant	0				HGNC	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.539+1->A	16.37:g.5125537_5125538insA		Somatic	0	49	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Frame_Shift_Ins	INS							pfam_Glyco_trans_1	p.W180fs	ENST00000262374.5	37	c.539_540	CCDS10528.1	16																																																																																			-	NULL		0.545	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	protein_coding	OTTHUMT00000251716.2	-	NM_019109		Frame_Shift_Ins	5125538	1	no_errors	ENST00000262374	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	5125538	-	A	5125537	8	5	169	1	0	1	1	0	0	0	1	0	510	1362	47	0	553	0	ALG1	16	5125537	Splice_Site	INS	-	TCGA-K1-A42W-01A-11D-A24N-09	2	5125537	85229216	33	11933	184	2									
THAP11	57215	genome.wustl.edu	37	chr16	67877046	67877060	+	In_Frame_Del	DEL	GCAGCCGCAGAGGGC	GCAGCCGCAGAGGGC	-													tcacagtgcaagtggagtttGcagccgcagagggcgcagcc							TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	GCAGCCGCAGAGGGC	GCAGCCGCAGAGGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr16:67877046_67877060delGCAGCCGCAGAGGGC	ENST00000303596.1	+	1	834_848	c.589_603delGCAGCCGCAGAGGGC	c.(589-603)gcagccgcagagggcdel	p.AAAEG197del	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	197	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AGTGGAGTTTGCAGCCGCAGAGGGCGCAGCCGCTG	0.656																																																	0								ENSG00000168286		,	1,4255		0,1,2127					,	-0.8	1			61	2,8244		0,2,4121	no	intron,coding	THAP11,CENPT	NM_025082.3,NM_020457.2	,	0,3,6248	A1A1,A1R,RR		0.0243,0.0235,0.024	,	,		3,12499				THAP11	SO:0001651	inframe_deletion	0				HGNC	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.589_603delGCAGCCGCAGAGGGC	16.37:g.67877046_67877060delGCAGCCGCAGAGGGC	ENSP00000304689:p.Ala197_Gly201del	Somatic					0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A4UCT5|A8K002|O94795	In_Frame_Del	DEL							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.EGAAA200in_frame_del	ENST00000303596.1	37	c.589_603	CCDS10847.1	16																																																																																			-	NULL		0.656	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	protein_coding	OTTHUMT00000268879.1	GCAGCCGCAGAGGGC	NM_020457			67877060	1	no_errors	ENST00000303596	ensembl	human	known	74_37	in_frame_del	DEL	0.996:0.997:0.972:0.992:0.997:0.872:0.935:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.963	-	-	67877060	GCAGCCGCAGAGGGC	-	67877046	7	5	169	1	0	1	0	1	0	0	0	0	15850	1319	46	0	591	0	THAP11	16	67877046	In_Frame_Del	DEL	GCAGCCGCAGAGGGC	TCGA-K1-A42W-01A-11D-A24N-09	62751509	67877046	22477707	34	11934											
ZNF19	7567	genome.wustl.edu	37	chr16	71509307	71509307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacatacataggaagactcCtgagtatgaattctcagatg	8	8	2	4			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr16:71509307C>A	ENST00000288177.5	-	6	1398	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H	AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.Q311H|ZNF19_ENST00000564230.1_Missense_Mutation_p.Q381H|ZNF19_ENST00000565637.1_Missense_Mutation_p.Q339H|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	381					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(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGGAAGACTCCTGAGTATGAA	0.403																																																	0								ENSG00000157429						89	87	87					16																	71509307		2198	4300	6498	ZNF19	SO:0001583	missense	0			-	HGNC	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1143G>T	16.37:g.71509307C>A	ENSP00000288177:p.Gln381His	Somatic	0	67	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q381H	ENST00000288177.5	37	c.1143	CCDS10901.1	16	.	.	.	.	.	.	.	.	.	.	C	8.104	0.777201	0.16120	.	.	ENSG00000157429	ENST00000288177	T	0.18810	2.19	3.27	-0.948	0.10379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.539851	0.13974	N	0.349970	T	0.20981	0.0505	L	0.42632	1.34	0.23886	N	0.996561	P	0.40731	0.728	P	0.46110	0.504	T	0.15665	-1.0429	10	0.87932	D	0	.	7.5294	0.27674	0.0:0.5757:0.0:0.4243	.	381	P17023	ZNF19_HUMAN	H	381	ENSP00000288177:Q381H	ENSP00000288177:Q381H	Q	-	3	2	ZNF19	70066808	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-3.209000	0.00557	-0.149000	0.11215	-0.150000	0.13652	CAG	-	pfscan_Znf_C2H2		0.403	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF19	protein_coding	OTTHUMT00000268993.2	C	NM_006961	-		71509307	-1	no_errors	ENST00000288177	ensembl	human	known	74_37	missense	SNP	0.938	A	A	71509307	C	A	71509307	3	1	169	1	0	0	0	0	1	0	0	0	17762	680	24	3	237	3	ZNF19	16	71509307	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	3632261	71509307	18845446	35	11935											
TAT	6898	genome.wustl.edu	37	chr16	71610109	71610109	+	Frame_Shift_Del	DEL	G	G	-													gacagggaaatcatggttttGtttggatttggtttcacctt							TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr16:71610109delG	ENST00000355962.4	-	2	343	c.210delC	c.(208-210)aacfs	p.N70fs	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	70			N -> D (in dbSNP:rs16973344).		2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCATGGTTTTGTTTGGATTTG	0.498																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0								ENSG00000198650						172	130	144					16																	71610109		2198	4300	6498	TAT	SO:0001589	frameshift_variant	0				HGNC		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.210delC	16.37:g.71610109delG	ENSP00000348234:p.Asn70fs	Somatic	0	133	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	104	21.80	B2R8I1|D3DWS2	Frame_Shift_Del	DEL							pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.N70fs	ENST00000355962.4	37	c.210	CCDS10903.1	16																																																																																			-	superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.498	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	protein_coding	OTTHUMT00000268989.1	G				71610109	-1	no_errors	ENST00000355962	ensembl	human	known	74_37	frame_shift_del	DEL	0.983	-	-	71610109	G	-	71610109	7	5	169	1	0	1	0	1	0	0	0	0	15597	1368	48	0	1198	0	TAT	16	71610109	Frame_Shift_Del	DEL	G	TCGA-K1-A42W-01A-11D-A24N-09	100802	71610109	18744644	36	11936											
TP53	7157	genome.wustl.edu	37	chr17	7577029	7577032	+	Frame_Shift_Del	DEL	GCTC	GCTC	-													gcttgcttacctcgcttagtGctccctgggggcagctcgtg					rs587782391		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	GCTC	GCTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr17:7577029_7577032delGCTC	ENST00000269305.4	-	8	1095_1098	c.906_909delGAGC	c.(904-909)gggagcfs	p.GS302fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.GS302fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.GS302fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.GS302fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.GS302fs	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	302	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in a sporadic cancer; somatic mutation).|G -> V (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.0?(8)|p.?(3)|p.S303N(3)|p.S303T(3)|p.G302G(3)|p.S303C(2)|p.P301_S303delPGS(1)|p.L265_K305del41(1)|p.G302fs*2(1)|p.S303fs*42(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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)	CTCGCTTAGTGCTCCCTGGGGGCA	0.559		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	28	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(3)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(3)	bone(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|prostate(1)						ENSG00000141510																																			TP53	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;		HGNC	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.906_909delGAGC	17.37:g.7577029_7577032delGCTC	ENSP00000269305:p.Gly302fs	Somatic	0	62	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	26	53.57	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S303fs	ENST00000269305.4	37	c.909_906	CCDS11118.1	17																																																																																			-	NULL		0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	GCTC	NM_000546			7577032	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	0.989:0.998:1.000:0.995	-	-	7577032	GCTC	-	7577029	7	5	169	1	0	1	0	1	0	0	0	0	16388	1310	46	0	377	0	TP53	17	7577029	Frame_Shift_Del	DEL	GCTC	TCGA-K1-A42W-01A-11D-A24N-09		7577029	73618181	37	11937	185	2									
TP53	7157	genome.wustl.edu	37	chr17	7577033	7577033	+	Missense_Mutation	SNP	C	C	A													gcttacctcgcttagtgctcCctgggggcagctcgtggtga							TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr17:7577033C>A	ENST00000269305.4	-	8	1094	c.905G>T	c.(904-906)gGg>gTg	p.G302V	TP53_ENST00000445888.2_Missense_Mutation_p.G302V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G302V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G302V|TP53_ENST00000420246.2_Missense_Mutation_p.G302V	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	302	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in a sporadic cancer; somatic mutation).|G -> V (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.0?(8)|p.?(3)|p.G302E(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.G302fs*2(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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)	CTTAGTGCTCCCTGGGGGCAG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	20	Whole gene deletion(8)|Substitution - Missense(3)|Unknown(3)|Deletion - In frame(3)|Deletion - Frameshift(3)	bone(5)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|urinary_tract(1)|lung(1)|oesophagus(1)						ENSG00000141510						113	99	104					17																	7577033		2203	4300	6503	TP53	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;	-	HGNC	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.905G>T	17.37:g.7577033C>A	ENSP00000269305:p.Gly302Val	Somatic	0	60	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	24	56.36	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G302V	ENST00000269305.4	37	c.905	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367445	0.61513	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99760	-5.9;-5.62;-5.93;-5.92;-5.62;-6.66	5.26	2.06	0.26882	.	2.455680	0.01443	N	0.015197	D	0.99576	0.9847	M	0.85945	2.785	0.54753	D	0.999985	P;B;P;P	0.42556	0.745;0.355;0.783;0.751	P;B;P;B	0.48141	0.568;0.276;0.48;0.365	D	0.97727	1.0200	10	0.66056	D	0.02	-10.7674	6.155	0.20332	0.0:0.6957:0.0:0.3043	.	302;302;302;302	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	302;302;302;302;302;291;170	ENSP00000352610:G302V;ENSP00000269305:G302V;ENSP00000398846:G302V;ENSP00000391127:G302V;ENSP00000391478:G302V;ENSP00000425104:G170V	ENSP00000269305:G302V	G	-	2	0	TP53	7517758	0.000000	0.05858	0.095000	0.20976	0.224000	0.24922	0.496000	0.22499	0.804000	0.34136	0.561000	0.74099	GGG	-	NULL		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577033	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.865	A	A	7577033	C	A	7577033	3	1	169	1	0	0	0	0	1	0	0	0	16388	623	22	3	381	3	TP53	17	7577033	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	4	7577033	73618177	38	11938	185	2									
CRLF3	51379	genome.wustl.edu	37	chr17	29124397	29124397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattctcttctcccacaccAccaagcatggcgatttcacc	4	17	4	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr17:29124397A>G	ENST00000324238.6	-	3	481	c.357T>C	c.(355-357)ggT>ggC	p.G119G	CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Silent_p.G3G	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	119					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CTCCCACACCACCAAGCATGG	0.408																																					Pancreas(30;346 881 29244 33464 41299)												0								ENSG00000176390						121	106	112					17																	29124397		2203	4300	6503	CRLF3	SO:0001819	synonymous_variant	0			-	HGNC	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.357T>C	17.37:g.29124397A>G		Somatic	0	37	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	9.76	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP							NULL	p.V50A	ENST00000324238.6	37	c.149	CCDS32607.1	17																																																																																			-	NULL		0.408	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF3	protein_coding	OTTHUMT00000444354.1	A		-		29124397	-1	no_errors	ENST00000578692	ensembl	human	known	74_37	missense	SNP	0.980	G	G	29124397	A	G	29124397	2	3	169	1	0	0	0	0	0	0	0	1	3890	146	6	5		5	CRLF3	17	29124397	Silent	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09	21547364	29124397	52070813	39	11939											
TUBD1	51174	genome.wustl.edu	37	chr17	57968332	57968332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaccaatctgattgccaCactgaccaagttgcactgtt	6	12	1	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr17:57968332C>T	ENST00000592426.1	-	1	32	c.32G>A	c.(31-33)tGt>tAt	p.C11Y	TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.C11Y|RPS6KB1_ENST00000443572.2_5'Flank|TUBD1_ENST00000539018.1_Intron|RPS6KB1_ENST00000393021.3_5'Flank|RPS6KB1_ENST00000406116.3_5'Flank|RPS6KB1_ENST00000225577.4_5'Flank|TUBD1_ENST00000346141.6_Missense_Mutation_p.C11Y|TUBD1_ENST00000325752.3_Missense_Mutation_p.C11Y|TUBD1_ENST00000394239.3_Missense_Mutation_p.C11Y|TUBD1_ENST00000340993.6_Missense_Mutation_p.C11Y			Q9UJT1	TBD_HUMAN	tubulin, delta 1	11					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CTGATTGCCACACTGACCAAG	0.408																																																	0								ENSG00000108423						148	129	136					17																	57968332		2203	4300	6503	TUBD1	SO:0001583	missense	0			-	HGNC	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.32G>A	17.37:g.57968332C>T	ENSP00000468518:p.Cys11Tyr	Somatic	0	8	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.C11Y	ENST00000592426.1	37	c.32	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039429	0.75617	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	6.04	5.06	0.68205	Tubulin/FtsZ, GTPase domain (3);	0.043512	0.85682	N	0.000000	D	0.87593	0.6216	M	0.93854	3.465	0.80722	D	1	P;B;B;D;P	0.54964	0.931;0.082;0.008;0.969;0.931	P;B;B;P;P	0.56563	0.739;0.058;0.031;0.801;0.798	D	0.91049	0.4877	10	0.87932	D	0	-9.8784	15.7671	0.78135	0.0:0.9342:0.0:0.0658	.	11;11;11;11;11	E9PCA7;Q9UJT1-3;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	Y	11	ENSP00000320797:C11Y;ENSP00000342399:C11Y;ENSP00000342561:C11Y;ENSP00000377785:C11Y;ENSP00000365262:C11Y	ENSP00000320797:C11Y	C	-	2	0	TUBD1	55323114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	1.554000	0.49487	0.650000	0.86243	TGT	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin		0.408	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	protein_coding	OTTHUMT00000448815.1	C	NM_016261	-		57968332	-1	no_errors	ENST00000325752	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57968332	C	T	57968332	3	4	169	1	0	0	0	0	1	0	0	0	16769	478	17	2	1361	2	TUBD1	17	57968332	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	28843935	57968332	23226878	40	11940											
C17orf70	80233	genome.wustl.edu	37	chr17	79517588	79517588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccaaaggccaccaggCagtcacagtgcacatcctcg	11	14	1	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr17:79517588C>A	ENST00000327787.8	-	3	978	c.932G>T	c.(931-933)tGc>tTc	p.C311F	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.C160F			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	311					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCCACCAGGCAGTCACAGTG	0.612																																																	0								ENSG00000185504						46	48	47					17																	79517588		2202	4300	6502	C17orf70	SO:0001583	missense	0			-	HGNC	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.932G>T	17.37:g.79517588C>A	ENSP00000333283:p.Cys311Phe	Somatic	0	43	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP							NULL	p.C311F	ENST00000327787.8	37	c.932	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433328	0.62844	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.50001	0.76;0.79	3.91	2.89	0.33648	.	0.061261	0.64402	N	0.000003	T	0.64789	0.2630	M	0.72894	2.215	0.50039	D	0.999842	D	0.76494	0.999	D	0.87578	0.998	T	0.67094	-0.5757	10	0.87932	D	0	.	11.3157	0.49390	0.184:0.816:0.0:0.0	.	311	Q0VG06	FP100_HUMAN	F	311;160;160;160	ENSP00000333283:C311F;ENSP00000440151:C160F	ENSP00000333283:C311F	C	-	2	0	C17orf70	77128030	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.090000	0.64498	0.770000	0.33336	0.563000	0.77884	TGC	-	NULL		0.612	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	protein_coding	OTTHUMT00000396170.1	C	NM_025161	-		79517588	-1	no_errors	ENST00000327787	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79517588	C	A	79517588	3	1	169	1	0	0	0	0	1	0	0	0	1879	710	25	3	1741	3	C17orf70	17	79517588	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	21549256	79517588	1677622	41	11941											
NPC1	4864	genome.wustl.edu	37	chr18	21119815	21119815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttaaatatctgctgcaccaGggaatcattgttgcagccca	9	10	2	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr18:21119815G>T	ENST00000269228.5	-	18	3309	c.2755C>A	c.(2755-2757)Ctg>Atg	p.L919M	NPC1_ENST00000412552.2_Missense_Mutation_p.L601M|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	919					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)					TGCTGCACCAGGGAATCATTG	0.567																																																	0								ENSG00000141458						83	77	79					18																	21119815		2203	4300	6503	NPC1	SO:0001583	missense	0			-	HGNC	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.2755C>A	18.37:g.21119815G>T	ENSP00000269228:p.Leu919Met	Somatic	0	34	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	B4DET3|Q9P130	Missense_Mutation	SNP							pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.L919M	ENST00000269228.5	37	c.2755	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162771	0.78226	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.95272	-3.66;-3.66	5.51	2.72	0.32119	.	0.068566	0.64402	D	0.000018	D	0.96571	0.8881	M	0.89904	3.07	0.54753	D	0.999986	D;D	0.56968	0.978;0.978	P;D	0.63192	0.883;0.912	D	0.94645	0.7834	10	0.56958	D	0.05	-11.8642	6.3668	0.21459	0.209:0.1319:0.6591:0.0	.	930;919	Q59GR1;O15118	.;NPC1_HUMAN	M	919;601;764	ENSP00000269228:L919M;ENSP00000408606:L601M	ENSP00000269228:L919M	L	-	1	2	NPC1	19373813	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.173000	0.58249	0.365000	0.24400	0.650000	0.86243	CTG	-	tigrfam_NP_C_type		0.567	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	protein_coding	OTTHUMT00000254823.2	G	NM_000271	-		21119815	-1	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	SNP	0.992	T	T	21119815	G	T	21119815	3	4	169	1	0	0	0	0	1	0	0	0	10572	991	35	3	1113	3	NPC1	18	21119815	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		21119815	56957433	42	11942											
RTTN	25914	genome.wustl.edu	37	chr18	67836097	67836097	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaaagctttttacctctttCccaatatcagacaggaagtt	5	9	2	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr18:67836097C>A	ENST00000255674.6	-	12	1969	c.1683G>T	c.(1681-1683)ggG>ggT	p.G561G	RTTN_ENST00000454359.1_Silent_p.G561G|RTTN_ENST00000437017.1_Silent_p.G561G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	561					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTACCTCTTTCCCAATATCAG	0.289																																																	0								ENSG00000176225						78	78	78					18																	67836097		1791	4063	5854	RTTN	SO:0001819	synonymous_variant	0			-	HGNC	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1683G>T	18.37:g.67836097C>A		Somatic	0	32	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP							superfamily_ARM-type_fold	p.G561	ENST00000255674.6	37	c.1683	CCDS42443.1	18																																																																																			-	superfamily_ARM-type_fold		0.289	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	protein_coding	OTTHUMT00000442988.1	C	NM_173630	-		67836097	-1	no_errors	ENST00000255674	ensembl	human	known	74_37	silent	SNP	0.061	A	A	67836097	C	A	67836097	2	1	169	1	0	0	0	0	0	0	0	1	13745	842	30	3		3	RTTN	18	67836097	Silent	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	46716282	67836097	10241151	43	11943											
RGL3	57139	genome.wustl.edu	37	chr19	11526773	11526773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgggcaggggggtctcgGaaatcctgagggtggtcctg	19	7	1	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr19:11526773G>A	ENST00000380456.3	-	5	540	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RGL3_ENST00000393423.3_Silent_p.F159F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	159	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGGGGTCTCGGAAATCCTGAG	0.637																																					GBM(174;751 2067 17998 27979 33959)												0								ENSG00000205517						22	26	24					19																	11526773		2203	4300	6503	RGL3	SO:0001819	synonymous_variant	0			-	HGNC	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.477C>T	19.37:g.11526773G>A		Somatic	0	19	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP							superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N	p.P158S	ENST00000380456.3	37	c.472	CCDS32910.1	19																																																																																			-	pfscan_Ras-like_Gua-exchang_fac_N		0.637	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	protein_coding	OTTHUMT00000421208.3	G	XM_290867	-		11526773	-1	no_errors	ENST00000563726	ensembl	human	known	74_37	missense	SNP	0.981	A	A	11526773	G	A	11526773	2	1	169	1	0	0	0	0	0	0	0	1	13286	1165	41	2		2	RGL3	19	11526773	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		11526773	47602210	44	11944											
ZNF573	126231	genome.wustl.edu	37	chr19	38231024	38231024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatatatgctctgaagttGtgtagaggatatatctgttt	9	4	2	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr19:38231024G>T	ENST00000590414.2	-	4	388	c.367C>A	c.(367-369)Caa>Aaa	p.Q123K	ZNF573_ENST00000536220.1_Missense_Mutation_p.Q35K|ZNF573_ENST00000339503.4_Missense_Mutation_p.Q65K|ZNF573_ENST00000392138.1_Missense_Mutation_p.Q36K|ZNF573_ENST00000357309.3_Missense_Mutation_p.Q35K|ZNF573_ENST00000585724.1_3'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	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)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CTCTGAAGTTGTGTAGAGGAT	0.318																																																	0								ENSG00000189144						69	76	73					19																	38231024		2202	4300	6502	ZNF573	SO:0001583	missense	0			-	HGNC	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.367C>A	19.37:g.38231024G>T	ENSP00000465020:p.Gln123Lys	Somatic	0	28	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.30	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q123K	ENST00000590414.2	37	c.367	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.830088	0.00584	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.06768	3.31;3.26;3.26;3.29	1.79	-0.543	0.11851	.	.	.	.	.	T	0.03520	0.0101	N	0.16233	0.39	0.09310	N	1	B;B;B;B	0.23185	0.081;0.081;0.049;0.081	B;B;B;B	0.15052	0.005;0.012;0.003;0.007	T	0.45131	-0.9282	9	0.05959	T	0.93	.	4.8145	0.13360	0.1357:0.0:0.6536:0.2107	.	36;65;103;35	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	K	36;35;35;65;35	ENSP00000375983:Q36K;ENSP00000440464:Q35K;ENSP00000349861:Q35K;ENSP00000340171:Q65K	ENSP00000340171:Q65K	Q	-	1	0	ZNF573	42922864	.	.	0.001000	0.08648	0.027000	0.11550	.	.	-0.064000	0.13043	-0.194000	0.12790	CAA	-	NULL		0.318	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	protein_coding	OTTHUMT00000459773.2	G	NM_152360	-		38231024	-1	no_errors	ENST00000590414	ensembl	human	known	74_37	missense	SNP	0.001	T	T	38231024	G	T	38231024	3	4	169	1	0	0	0	0	1	0	0	0	18012	1386	48	3	1634	3	ZNF573	19	38231024	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	26704251	38231024	20897959	45	11945											
RYR1	6261	genome.wustl.edu	37	chr19	38951142	38951142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatcaaggagtatcgaCgggaggggccccgggggcct	16	12	1	0	rs142548565		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr19:38951142C>T	ENST00000359596.3	+	20	2488	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	RYR1_ENST00000355481.4_Missense_Mutation_p.R830W|RYR1_ENST00000360985.3_Missense_Mutation_p.R830W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					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)	p.R830W(1)		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)	GGAGTATCGACGGGAGGGGCC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000196218	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	68	73	71		2488,2488	1.9	0.9	19	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	RYR1	NM_000540.2,NM_001042723.1	101,101	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	830/5039,830/5034	38951142	4,13002	2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.2488C>T	19.37:g.38951142C>T	ENSP00000352608:p.Arg830Trp	Somatic	0	35	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R830W	ENST00000359596.3	37	c.2488	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866632	0.51588	0.0	4.65E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96940	-4.17;-4.18;-4.17	4.13	1.89	0.25635	.	0.091594	0.43416	U	0.000573	D	0.96583	0.8885	L	0.57536	1.79	0.26910	N	0.966923	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.96	D	0.91398	0.5141	10	0.51188	T	0.08	.	8.8285	0.35069	0.3047:0.556:0.1393:0.0	.	830;830	P21817-2;P21817	.;RYR1_HUMAN	W	830	ENSP00000352608:R830W;ENSP00000347667:R830W;ENSP00000354254:R830W	ENSP00000347667:R830W	R	+	1	2	RYR1	43642982	0.468000	0.25839	0.892000	0.35008	0.972000	0.66771	1.165000	0.31822	0.447000	0.26695	0.299000	0.19835	CGG	-	NULL		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		rs142548565		38951142	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	0.739	T	T	38951142	C	T	38951142	3	4	169	1	0	0	0	0	1	0	0	0	13776	527	19	1	2566	1	RYR1	19	38951142	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	720118	38951142	20177841	46	11946											
PLEKHG2	64857	genome.wustl.edu	37	chr19	39908220	39908220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaagcactgggcggaggGcccaggcactgggggtcgcg	21	10	0	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr19:39908220G>T	ENST00000409794.3	+	8	1620	c.770G>T	c.(769-771)gGc>gTc	p.G257V	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.G257V|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G198V|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.G257V|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.G257V	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	257	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.G257D(1)|p.G215D(1)		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)			TGGGCGGAGGGCCCAGGCACT	0.572																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000090924						59	52	54					19																	39908220		2203	4300	6503	PLEKHG2	SO:0001583	missense	0			-	HGNC	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.770G>T	19.37:g.39908220G>T	ENSP00000386733:p.Gly257Val	Somatic	0	31	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G257V	ENST00000409794.3	37	c.770	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.53|12.53	1.965871|1.965871	0.34659|0.34659	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	.|T;T;T;T;T	.|0.72051	.|-0.31;-0.27;-0.62;-0.42;-0.62	4.68|4.68	4.68|4.68	0.58851|0.58851	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.46442	.|D	.|0.000294	T|T	0.79358|0.79358	0.4432|0.4432	L|L	0.48877|0.48877	1.53|1.53	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;B	.|0.89917	.|0.993;1.0;0.995;0.057	.|D;D;D;B	.|0.91635	.|0.97;0.999;0.976;0.113	T|T	0.80243|0.80243	-0.1463|-0.1463	5|10	.|0.59425	.|D	.|0.04	.|.	14.9813|14.9813	0.71313|0.71313	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|257;257;198;257	.|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.|.;PKHG2_HUMAN;.;.	S|V	154|257;257;257;198;257	.|ENSP00000386733:G257V;ENSP00000392906:G257V;ENSP00000367812:G257V;ENSP00000408857:G198V;ENSP00000386492:G257V	.|ENSP00000367812:G257V	A|G	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44600060|44600060	0.892000|0.892000	0.30473|0.30473	0.999000|0.999000	0.59377|0.59377	0.169000|0.169000	0.22640|0.22640	1.098000|1.098000	0.31000|0.31000	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCC|GGC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	protein_coding	OTTHUMT00000326802.1	G	NM_022835	-		39908220	1	no_errors	ENST00000409794	ensembl	human	known	74_37	missense	SNP	0.998	T	T	39908220	G	T	39908220	3	4	169	1	0	0	0	0	1	0	0	0	12071	1203	42	3	796	3	PLEKHG2	19	39908220	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	957078	39908220	19220763	47	11947											
NKX2-2	4821	genome.wustl.edu	37	chr20	21494277	21494277	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctaagatgtccttgaccgAaaaccccgtctttgtgttgg	10	10	2	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr20:21494277A>C	ENST00000377142.4	-	1	387	c.31T>G	c.(31-33)Tcg>Gcg	p.S11A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	11					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCTTGACCGAAAACCCCGTC	0.567																																																	0								ENSG00000125820						65	65	65					20																	21494277		2203	4300	6503	NKX2-2	SO:0001583	missense	0			-	HGNC	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.31T>G	20.37:g.21494277A>C	ENSP00000366347:p.Ser11Ala	Somatic	0	50	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	35	50.00		Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.S11A	ENST00000377142.4	37	c.31	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	A	18.61	3.662115	0.67700	.	.	ENSG00000125820	ENST00000377142	D	0.91011	-2.77	4.75	4.75	0.60458	.	0.071666	0.64402	D	0.000017	D	0.86577	0.5966	L	0.47716	1.5	0.46222	D	0.998938	P	0.34864	0.473	B	0.30105	0.111	D	0.87069	0.2158	10	0.66056	D	0.02	.	13.9483	0.64099	1.0:0.0:0.0:0.0	.	11	O95096	NKX22_HUMAN	A	11	ENSP00000366347:S11A	ENSP00000366347:S11A	S	-	1	0	NKX2-2	21442277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.854000	0.75440	1.774000	0.52232	0.460000	0.39030	TCG	-	NULL		0.567	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	protein_coding	OTTHUMT00000078278.9	A		-		21494277	-1	no_errors	ENST00000377142	ensembl	human	known	74_37	missense	SNP	1.000	C	C	21494277	A	C	21494277	3	2	169	1	0	0	0	0	1	0	0	0	10452	246	9	5	798	5	NKX2-2	20	21494277	Missense_Mutation	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09		21494277	41531243	48	11948											
ZHX3	23051	genome.wustl.edu	37	chr20	39831141	39831141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagcgcaccacctctgGccgtggcagacccgtctggg	12	16	2	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr20:39831141G>T	ENST00000309060.3	-	4	2831	c.2416C>A	c.(2416-2418)Cca>Aca	p.P806T	ZHX3_ENST00000559234.1_Missense_Mutation_p.P806T|ZHX3_ENST00000540170.1_Missense_Mutation_p.P806T|ZHX3_ENST00000560361.1_Missense_Mutation_p.P806T|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.P806T|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.P806T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	806					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACCACCTCTGGCCGTGGCAGA	0.582																																																	0								ENSG00000174306						135	134	135					20																	39831141		2203	4300	6503	ZHX3	SO:0001583	missense	0			-	HGNC	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2416C>A	20.37:g.39831141G>T	ENSP00000312222:p.Pro806Thr	Somatic	0	58	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P806T	ENST00000309060.3	37	c.2416	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.112|0.112	-1.137466|-1.137466	0.01742|0.01742	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	.|D;D;D	.|0.90955	.|-2.76;-2.76;-2.76	6.07|6.07	4.03|4.03	0.46877|0.46877	.|Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	.|0.284688	.|0.39615	.|N	.|0.001306	T|T	0.75258|0.75258	0.3825|0.3825	N|N	0.13043|0.13043	0.29|0.29	0.46061|0.46061	D|D	0.998844|0.998844	.|B;B;B	.|0.13145	.|0.0;0.0;0.007	.|B;B;B	.|0.14578	.|0.004;0.004;0.011	T|T	0.65417|0.65417	-0.6173|-0.6173	5|10	.|0.02654	.|T	.|1	-6.081|-6.081	3.4017|3.4017	0.07325|0.07325	0.1066:0.2961:0.4726:0.1248|0.1066:0.2961:0.4726:0.1248	.|.	.|806;806;806	.|A8K8Q0;Q9H4I2;F5H820	.|.;ZHX3_HUMAN;.	D|T	514|806;806;806;806;584	.|ENSP00000362360:P806T;ENSP00000442290:P806T;ENSP00000443783:P806T	.|ENSP00000312222:P806T	A|P	-|-	2|1	0|0	ZHX3|ZHX3	39264555|39264555	0.862000|0.862000	0.29867|0.29867	0.988000|0.988000	0.46212|0.46212	0.967000|0.967000	0.64934|0.64934	0.680000|0.680000	0.25306|0.25306	1.489000|1.489000	0.48450|0.48450	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.582	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	protein_coding	OTTHUMT00000079262.3	G	NM_015035	-		39831141	-1	no_errors	ENST00000309060	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39831141	G	T	39831141	3	4	169	1	0	0	0	0	1	0	0	0	17684	1203	42	3	462	3	ZHX3	20	39831141	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	18336864	39831141	23194379	49	11949											
NFATC2	4773	genome.wustl.edu	37	chr20	50049142	50049142	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccccgtgcggaactgctgGcagggagccatggtggccac	16	13	0	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr20:50049142G>C	ENST00000396009.3	-	9	2403	c.2184C>G	c.(2182-2184)tgC>tgG	p.C728W	NFATC2_ENST00000609943.1_Missense_Mutation_p.C708W|NFATC2_ENST00000610033.1_Missense_Mutation_p.C509W|NFATC2_ENST00000371564.3_Missense_Mutation_p.C728W|NFATC2_ENST00000609507.1_Missense_Mutation_p.C509W|NFATC2_ENST00000414705.1_Missense_Mutation_p.C708W	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	728					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 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 transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGAACTGCTGGCAGGGAGCCA	0.692																																																	0								ENSG00000101096						22	27	26					20																	50049142		2201	4298	6499	NFATC2	SO:0001583	missense	0			-	HGNC	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2184C>G	20.37:g.50049142G>C	ENSP00000379330:p.Cys728Trp	Somatic	0	136	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	111	12.60	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP							pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.C728W	ENST00000396009.3	37	c.2184	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487428	0.63962	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.22945	1.93;1.94;1.97	5.31	5.31	0.75309	.	0.096682	0.64402	D	0.000001	T	0.47116	0.1428	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.985;0.993;0.997;0.986	T	0.43750	-0.9372	10	0.72032	D	0.01	-20.9615	12.347	0.55126	0.0769:0.0:0.9231:0.0	.	708;708;728;728	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	W	728;728;708	ENSP00000360619:C728W;ENSP00000379330:C728W;ENSP00000396471:C708W	ENSP00000360619:C728W	C	-	3	2	NFATC2	49482549	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.619000	0.61218	2.494000	0.84150	0.555000	0.69702	TGC	-	NULL		0.692	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	protein_coding	OTTHUMT00000079730.2	G	NM_012340	-		50049142	-1	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50049142	G	C	50049142	3	2	169	1	0	0	0	0	1	0	0	0	10364	1195	42	4	649	4	NFATC2	20	50049142	Missense_Mutation	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	10218001	50049142	12976378	50	11950											
SRMS	6725	genome.wustl.edu	37	chr20	62172208	62172208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcgtgcagcttctccCgcagcgtggcgaaggagggc	18	11	1	0	rs368421364		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr20:62172208C>T	ENST00000217188.1	-	8	1470	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CAGCTTCTCCCGCAGCGTGGC	0.711													C|||	1	0.000199681	0	0	5008	,	,		16932	0		0	False		,,,				2504	0.001																0								ENSG00000125508	C	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	101	90	94		1430	-2.4	0.6	20		94	0,8600		0,0,4300	no	missense	SRMS	NM_080823.2	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	477/489	62172208	1,13003	2202	4300	6502	SRMS	SO:0001583	missense	0			-	HGNC		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1430G>A	20.37:g.62172208C>T	ENSP00000217188:p.Arg477Gln	Somatic	0	58	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92		Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R477Q	ENST00000217188.1	37	c.1430	CCDS13525.1	20	.	.	.	.	.	.	.	.	.	.	C	0.542	-0.852984	0.02630	2.27E-4	0.0	ENSG00000125508	ENST00000217188	T	0.11495	2.77	5.17	-2.36	0.06663	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.024840	0.07842	N	0.963191	T	0.08846	0.0219	L	0.52573	1.65	0.19775	N	0.999953	B	0.19200	0.034	B	0.17098	0.017	T	0.47459	-0.9116	10	0.02654	T	1	.	10.2345	0.43275	0.0:0.7031:0.1318:0.1651	.	477	Q9H3Y6	SRMS_HUMAN	Q	477	ENSP00000217188:R477Q	ENSP00000217188:R477Q	R	-	2	0	SRMS	61642652	0.000000	0.05858	0.554000	0.28268	0.068000	0.16541	-0.025000	0.12413	-0.325000	0.08577	-0.345000	0.07892	CGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.711	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	protein_coding	OTTHUMT00000080148.1	C	NM_080823	-		62172208	-1	no_errors	ENST00000217188	ensembl	human	known	74_37	missense	SNP	0.388	T	T	62172208	C	T	62172208	3	4	169	1	0	0	0	0	1	0	0	0	15159	652	23	1	40	1	SRMS	20	62172208	Missense_Mutation	SNP	C	TCGA-K1-A42W-01A-11D-A24N-09	12123066	62172208	853312	51	11951											
KRTAP12-2	353323	genome.wustl.edu	37	chr21	46086641	46086641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctcacgggcaggcAcacggctggcttgaagctca	14	13	2	1			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr21:46086641A>G	ENST00000360770.3	-	1	203	c.163T>C	c.(163-165)Tgc>Cgc	p.C55R	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	55	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						ACGGGCAGGCACACGGCTGGC	0.627																																																	0								ENSG00000221864						69	79	75					21																	46086641		2193	4282	6475	KRTAP12-2	SO:0001583	missense	0			-	HGNC	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.163T>C	21.37:g.46086641A>G	ENSP00000354001:p.Cys55Arg	Somatic	0	62	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP							pfam_KRTAP_PMG	p.C55R	ENST00000360770.3	37	c.163	CCDS42965.1	21	.	.	.	.	.	.	.	.	.	.	a	10.03	1.238613	0.22711	.	.	ENSG00000221864	ENST00000360770	T	0.06768	3.26	2.69	2.69	0.31865	.	.	.	.	.	T	0.14570	0.0352	M	0.85630	2.765	0.27643	N	0.947649	B	0.16396	0.017	B	0.10450	0.005	T	0.08743	-1.0707	9	0.87932	D	0	.	8.9666	0.35881	1.0:0.0:0.0:0.0	.	55	P59991	KR122_HUMAN	R	55	ENSP00000354001:C55R	ENSP00000354001:C55R	C	-	1	0	KRTAP12-2	44911069	0.001000	0.12720	0.011000	0.14972	0.017000	0.09413	0.358000	0.20216	1.280000	0.44463	0.321000	0.21382	TGC	-	pfam_KRTAP_PMG		0.627	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	protein_coding	OTTHUMT00000128039.1	A	NM_181684	-		46086641	-1	no_errors	ENST00000360770	ensembl	human	known	74_37	missense	SNP	0.153	G	G	46086641	A	G	46086641	3	3	169	1	0	0	0	0	1	0	0	0	8521	159	6	5	281	5	KRTAP12-2	21	46086641	Missense_Mutation	SNP	A	TCGA-K1-A42W-01A-11D-A24N-09		46086641	2043254	52	11952											
MICAL3	57553	genome.wustl.edu	37	chr22	18301218	18301218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggacggggaccggggGgttggcagggacaacggctc	20	10	0	0			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chr22:18301218G>T	ENST00000441493.2	-	26	4561	c.4209C>A	c.(4207-4209)acC>acA	p.T1403T	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1403	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGACCGGGGGGTTGGCAGGG	0.672																																																	0								ENSG00000243156						75	86	82					22																	18301218		1926	4120	6046	MICAL3	SO:0001819	synonymous_variant	0			-	HGNC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4209C>A	22.37:g.18301218G>T		Somatic	0	37	0		0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.T1403	ENST00000441493.2	37	c.4209	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512906	0.00975	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.42	-5.7	0.02421	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46816	-0.9164	4	.	.	.	.	5.9118	0.19033	0.5076:0.0:0.2951:0.1973	.	.	.	.	H	385	.	.	P	-	2	0	XXbac-B461K10.4	16681218	0.774000	0.28592	0.003000	0.11579	0.003000	0.03518	-0.156000	0.10100	-1.089000	0.03073	-1.436000	0.01078	CCC	-	NULL		0.672	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	protein_coding	OTTHUMT00000447351.1	G		-		18301218	-1	no_errors	ENST00000441493	ensembl	human	known	74_37	silent	SNP	0.396	T	T	18301218	G	T	18301218	2	4	169	1	0	0	0	0	0	0	0	1	9573	1219	43	3		3	MICAL3	22	18301218	Silent	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09		18301218	33003348	53	11953											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT													cctcctcctcctgttgcttcINStgctgctgctgttgctgctt					rs201922875|rs553160982		TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic					0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT	TGCTGCTGCTGT	50350759	-	TGCTGCTGCTGT	50350758	7	5	169	1	0	1	1	0	0	0	0	0	14304	912	32	0	1113	0	SHROOM4	23	50350758	In_Frame_Ins	INS	-	TCGA-K1-A42W-01A-11D-A24N-09		50350758	104919802	54	11954											
MAGED1	9500	genome.wustl.edu	37	chrX	51637744	51637744	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcctgacgcttgtagagcaGtctgtcaccccctcccccag	8	17	2	2			TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chrX:51637744G>C	ENST00000375722.1	+	2	297				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375695.2_Missense_Mutation_p.V23L|MAGED1_ENST00000326587.7_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TTGTAGAGCAGTCTGTCACCC	0.567										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000179222						35	32	33					X																	51637744		2203	4299	6502	MAGED1	SO:0001627	intron_variant	0			-	HGNC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.45+299G>C	X.37:g.51637744G>C		Somatic	0	50	0	978	0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	50	12.28	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.V23L	ENST00000375722.1	37	c.67	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019692	0.02078	.	.	ENSG00000179222	ENST00000375695	T	0.02837	4.14	2.79	1.91	0.25777	.	.	.	.	.	T	0.02848	0.0085	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.40384	-0.9566	8	0.87932	D	0	.	6.8661	0.24094	0.0:0.3095:0.6905:0.0	.	23	Q9Y5V3-2	.	L	23	ENSP00000364847:V23L	ENSP00000364847:V23L	V	+	1	0	MAGED1	51654484	0.041000	0.20044	0.539000	0.28077	0.131000	0.20780	-0.037000	0.12164	0.586000	0.29626	0.425000	0.28330	GTC	-	NULL		0.567	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	protein_coding	OTTHUMT00000056593.1	G	NM_001005332	-		51637744	1	no_errors	ENST00000375695	ensembl	human	known	74_37	missense	SNP	0.484	C	C	51637744	G	C	51637744	1	2	169	0	1	0	0	0	0	0	0	0	9185	1029	36	4		4	MAGED1	23	51637744	Intron	SNP	G	TCGA-K1-A42W-01A-11D-A24N-09	1286986	51637744	103632816	55	11955											
ATRX	546	genome.wustl.edu	37	chrX	76888683	76888697	+	Splice_Site	DEL	TTAATACCTTACCTG	TTAATACCTTACCTG	-													cttctttatgtcactgtctaTtaataccttacctggatcaa							TCGA-K1-A42W-01A-11D-A24N-09	TCGA-K1-A42W-10A-01D-A24N-09	TTAATACCTTACCTG	TTAATACCTTACCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd93f952-2796-426f-add8-9a7ab441c794	39fd2203-42c8-4284-98bc-ff7ca45239ac	g.chrX:76888683_76888697delTTAATACCTTACCTG	ENST00000373344.5	-	19	5346_5349	c.5132_5135delCAGGTAAGGTATTAA	c.(5131-5136)ccaggt>ct	p.PG1711del	ATRX_ENST00000395603.3_Splice_Site_p.PG1673del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1711	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCACTGTCTATTAATACCTTACCTGGATCAACCAA	0.316			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001630	splice_region_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5134+1CAGGTAAGGTATTAA>-	X.37:g.76888683_76888697delTTAATACCTTACCTG		Somatic					0.735520191898632				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL							-	e20-1	ENST00000373344.5	37	c.5134+4_5134+1	CCDS14434.1	X																																																																																			-	-		0.316	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TTAATACCTTACCTG	NM_000489		In_Frame_Del	76888697	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	splice_site_del	DEL	0.000:0.000:0.001:0.001:0.060:0.078:0.018:0.028:0.138:0.969:1.000:1.000:1.000:1.000:1.000	-	-	76888697	TTAATACCTTACCTG	-	76888683	8	5	169	1	0	1	0	1	0	0	1	0	1208	1508	52	0		0	ATRX	23	76888683	Splice_Site	DEL	TTAATACCTTACCTG	TCGA-K1-A42W-01A-11D-A24N-09	25250939	76888683	78381877	56	11956											
ARID1A	8289	genome.wustl.edu	37	chr1	27097647	27097647	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggcgggaacttgcaaccaAcctcaatgtgggcacatcaa	10	11	2	0	rs372945891		TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr1:27097647A>T	ENST00000324856.7	+	12	3607	c.3236A>T	c.(3235-3237)aAc>aTc	p.N1079I	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Missense_Mutation_p.N696I|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1079I	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1079	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)		CTTGCAACCAACCTCAATGTG	0.478			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0								ENSG00000117713						76	71	73					1																	27097647		2203	4300	6503	ARID1A	SO:0001583	missense	0			-	HGNC	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.3236A>T	1.37:g.27097647A>T	ENSP00000320485:p.Asn1079Ile	Somatic	0	46	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	2	94.12	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.N1079I	ENST00000324856.7	37	c.3236	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106196	0.37145	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.63913	-0.07;-0.07;-0.07	5.33	5.33	0.75918	ARID/BRIGHT DNA-binding domain (5);	0.086125	0.85682	D	0.000000	T	0.64046	0.2563	N	0.19112	0.55	0.80722	D	1	D;D;D	0.63046	0.992;0.99;0.992	D;P;D	0.64144	0.922;0.873;0.922	T	0.62562	-0.6828	10	0.28530	T	0.3	-11.6727	15.4606	0.75353	1.0:0.0:0.0:0.0	.	1079;1079;733	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	I	1079;1079;696	ENSP00000320485:N1079I;ENSP00000387636:N1079I;ENSP00000363267:N696I	ENSP00000320485:N1079I	N	+	2	0	ARID1A	26970234	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.592000	0.67543	2.238000	0.73509	0.533000	0.62120	AAC	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	A	NM_139135	-		27097647	1	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27097647	A	T	27097647	3	4	170	1	0	0	0	0	1	0	0	0	913	43	2	5	3282	5	ARID1A	1	27097647	Missense_Mutation	SNP	A	TCGA-K1-A42X-01A-11D-A24N-09		27097647	222152974	1	11957											
CSMD2	114784	genome.wustl.edu	37	chr1	34383726	34383726	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccttctgtcccagtgacttCcagaaagtcgtaaccatcct	7	14	1	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr1:34383726C>G	ENST00000373381.4	-	5	1065	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	257	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGTGACTTCCAGAAAGTCG	0.517																																																	0								ENSG00000121904						97	84	88					1																	34383726		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.889G>C	1.37:g.34383726C>G	ENSP00000362479:p.Glu297Gln	Somatic	0	32	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	1	95.00	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E297Q	ENST00000373381.4	37	c.889		1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667467	0.88348	.	.	ENSG00000121904	ENST00000373381	D	0.94000	-3.33	5.48	5.48	0.80851	CUB (5);	0.000000	0.64402	D	0.000001	D	0.95683	0.8596	M	0.72353	2.195	0.80722	D	1	P;D	0.57571	0.929;0.98	P;P	0.60541	0.794;0.876	D	0.94208	0.7456	10	0.28530	T	0.3	.	18.3364	0.90290	0.0:1.0:0.0:0.0	.	257;297	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	297	ENSP00000362479:E297Q	ENSP00000241312:E257Q	E	-	1	0	CSMD2	34156313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.811000	0.86092	2.591000	0.87537	0.478000	0.44815	GAA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		C	NM_052896	-		34383726	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	1.000	G	G	34383726	C	G	34383726	3	3	170	1	0	0	0	0	1	0	0	0	3947	864	30	4	9954	4	CSMD2	1	34383726	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	7286079	34383726	214866895	2	11958											
CD244	51744	genome.wustl.edu	37	chr1	160832438	160832438	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tacaccttgaggagcaggagGagtatgagggtgaccacttg	15	7	0	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr1:160832438G>C	ENST00000368033.3	-	1	112	c.30C>G	c.(28-30)ctC>ctG	p.L10L	CD244_ENST00000322302.7_Silent_p.L10L|CD244_ENST00000368034.4_Silent_p.L10L|CD244_ENST00000368032.2_Silent_p.L10L			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	10					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGAGCAGGAGGAGTATGAGGG	0.637																																																	0								ENSG00000122223						103	70	81					1																	160832438		2203	4300	6503	CD244	SO:0001819	synonymous_variant	0			-	HGNC	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.30C>G	1.37:g.160832438G>C		Somatic	0	50	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	34	60.92	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP							pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom	p.L10	ENST00000368033.3	37	c.30	CCDS53399.1	1																																																																																			-	NULL		0.637	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	protein_coding	OTTHUMT00000071469.1	G	NM_016382	-		160832438	-1	no_errors	ENST00000368033	ensembl	human	known	74_37	silent	SNP	0.007	C	C	160832438	G	C	160832438	2	2	170	1	0	0	0	0	0	0	0	1	2989	1161	41	4		4	CD244	1	160832438	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	126448712	160832438	88418183	3	11959											
KCNT2	343450	genome.wustl.edu	37	chr1	196250098	196250098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataagttctgatccataaGtcatctgcagtgattttcat	7	8	4	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr1:196250098G>A	ENST00000294725.9	-	25	3717	c.2802C>T	c.(2800-2802)gaC>gaT	p.D934D	KCNT2_ENST00000609185.1_Silent_p.D860D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.D860D|KCNT2_ENST00000367433.5_Silent_p.D910D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	934					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)			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						TGATCCATAAGTCATCTGCAG	0.333																																																	0								ENSG00000162687						89	88	88					1																	196250098		2202	4300	6502	KCNT2	SO:0001819	synonymous_variant	0			-	HGNC	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.2802C>T	1.37:g.196250098G>A		Somatic	0	50	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	23	56.60	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.D934	ENST00000294725.9	37	c.2802	CCDS1384.1	1																																																																																			-	NULL		0.333	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	G	NM_198503	-		196250098	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	silent	SNP	1.000	A	A	196250098	G	A	196250098	2	1	170	1	0	0	0	0	0	0	0	1	8094	1020	36	2		2	KCNT2	1	196250098	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	35417660	196250098	53000523	4	11960											
USH2A	7399	genome.wustl.edu	37	chr1	216073476	216073476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgccaaatccattggagGcaaccaaccgaaacatatac	6	13	0	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr1:216073476G>T	ENST00000307340.3	-	40	7921	c.7535C>A	c.(7534-7536)gCc>gAc	p.A2512D	USH2A_ENST00000366943.2_Missense_Mutation_p.A2512D|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2512	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTGGAGGCAACCAACCG	0.418										HNSCC(13;0.011)																																							0								ENSG00000042781						145	120	128					1																	216073476		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7535C>A	1.37:g.216073476G>T	ENSP00000305941:p.Ala2512Asp	Somatic	0	28	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.A2512D	ENST00000307340.3	37	c.7535	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260941	0.80246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77098	-1.07;-1.07	6.16	2.97	0.34412	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000424	D	0.85017	0.5601	M	0.80616	2.505	0.31949	N	0.609939	D	0.69078	0.997	D	0.63793	0.918	D	0.85283	0.1063	10	0.87932	D	0	.	8.382	0.32477	0.1566:0.1219:0.7215:0.0	.	2512	O75445	USH2A_HUMAN	D	2512	ENSP00000305941:A2512D;ENSP00000355910:A2512D	ENSP00000305941:A2512D	A	-	2	0	USH2A	214140099	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	1.323000	0.33701	0.333000	0.23563	0.650000	0.86243	GCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		216073476	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216073476	G	T	216073476	3	4	170	1	0	0	0	0	1	0	0	0	17043	1203	42	3	8205	3	USH2A	1	216073476	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	19823378	216073476	33177145	5	11961											
MARK1	4139	genome.wustl.edu	37	chr1	220825491	220825491	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgaagcttaccggcctGggtaatgtgttggttacatc	12	9	1	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr1:220825491G>A	ENST00000366917.4	+	15	2001	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	MARK1_ENST00000402574.1_Splice_Site_p.G444S|MARK1_ENST00000366918.4_Splice_Site_p.G557S					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTACCGGCCTGGGTAATGTGT	0.428																																																	0								ENSG00000116141						115	108	110					1																	220825491		2203	4300	6503	MARK1	SO:0001630	splice_region_variant	0			-	HGNC	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1736+1G>A	1.37:g.220825491G>A		Somatic	0	60	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.G579S	ENST00000366917.4	37	c.1735	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163771	0.21538	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.27402	1.67;1.67;1.67	5.74	3.88	0.44766	.	0.543405	0.20470	N	0.091706	T	0.10637	0.0260	N	0.03194	-0.395	0.35344	D	0.786768	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.23190	-1.0195	10	0.02654	T	1	.	7.4892	0.27452	0.3546:0.0:0.6454:0.0	.	579;444;579;557	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	S	444;557;579	ENSP00000386017:G444S;ENSP00000355885:G557S;ENSP00000355884:G579S	ENSP00000355884:G579S	G	+	1	0	MARK1	218892114	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	1.932000	0.40143	0.892000	0.36259	0.563000	0.77884	GGT	-	NULL		0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	protein_coding	OTTHUMT00000090899.1	G		-	Missense_Mutation	220825491	1	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	SNP	1.000	A	A	220825491	G	A	220825491	5	1	170	1	0	0	0	0	0	0	1	0	9314	1362	47	2	1793	2	MARK1	1	220825491	Splice_Site	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	4752015	220825491	28425130	6	11962											
PSME4	23198	genome.wustl.edu	37	chr2	54152727	54152727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtactaaacgtagaagaCagacctaattcgaccaaact	6	9	0	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr2:54152727C>T	ENST00000404125.1	-	14	1813	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	586					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)			ACGTAGAAGACAGACCTAATT	0.353																																																	0								ENSG00000068878						173	152	159					2																	54152727		2203	4300	6503	PSME4	SO:0001819	synonymous_variant	0			-	HGNC	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.1758G>A	2.37:g.54152727C>T		Somatic	0	86	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	31	45.61	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP							pfam_DUF3437,superfamily_ARM-type_fold	p.L586	ENST00000404125.1	37	c.1758	CCDS33197.2	2																																																																																			-	superfamily_ARM-type_fold		0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	C	XM_040158	-		54152727	-1	no_errors	ENST00000404125	ensembl	human	known	74_37	silent	SNP	0.958	T	T	54152727	C	T	54152727	2	4	170	1	0	0	0	0	0	0	0	1	12714	465	17	2		2	PSME4	2	54152727	Silent	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09		54152727	189046646	7	11963											
CX3CR1	1524	genome.wustl.edu	37	chr3	39307683	39307683	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccgatgaagaagaaggcGgtagtgaatttgcacatggc	14	6	0	4			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr3:39307683G>T	ENST00000541347.1	-	2	557	c.318C>A	c.(316-318)acC>acA	p.T106T	CX3CR1_ENST00000358309.3_Silent_p.T138T|CX3CR1_ENST00000542107.1_Silent_p.T106T|CX3CR1_ENST00000399220.2_Silent_p.T106T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	106					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGAAGAAGGCGGTAGTGAATT	0.473																																																	0								ENSG00000168329						155	149	151					3																	39307683		1961	4152	6113	CX3CR1	SO:0001819	synonymous_variant	0			-	HGNC	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.318C>A	3.37:g.39307683G>T		Somatic	0	25	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	A0N0N6|B2R5Z4|J3KP17	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.T138	ENST00000541347.1	37	c.414	CCDS43069.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt		0.473	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	protein_coding	OTTHUMT00000343613.1	G	NM_001337	-		39307683	-1	no_errors	ENST00000358309	ensembl	human	known	74_37	silent	SNP	0.000	T	T	39307683	G	T	39307683	2	4	170	1	0	0	0	0	0	0	0	1	4077	1103	39	3		3	CX3CR1	3	39307683	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		39307683	158714747	8	11964											
PTPN23	25930	genome.wustl.edu	37	chr3	47452009	47452009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacccctgctcctcccccGccctgcttccctgtgccccc	5	27	0	0	rs150118207	byFrequency	TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr3:47452009G>A	ENST00000265562.4	+	20	2798	c.2721G>A	c.(2719-2721)ccG>ccA	p.P907P	PTPN23_ENST00000431726.1_Silent_p.P781P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	907	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTCCCCCGCCCTGCTTCC	0.672																																																	0								ENSG00000076201	G		0,4406		0,0,2203	17	18	18		2721	1.5	0.9	3	dbSNP_134	18	3,8587		0,3,4292	no	coding-synonymous	PTPN23	NM_015466.2		0,3,6495	AA,AG,GG		0.0349,0.0,0.0231		907/1637	47452009	3,12993	2203	4295	6498	PTPN23	SO:0001819	synonymous_variant	0			-	HGNC	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2721G>A	3.37:g.47452009G>A		Somatic	0	9	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP							pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P907	ENST00000265562.4	37	c.2721	CCDS2754.1	3																																																																																			-	NULL		0.672	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	protein_coding	OTTHUMT00000257492.2	G	NM_015466	rs150118207		47452009	1	no_errors	ENST00000265562	ensembl	human	known	74_37	silent	SNP	0.066	A	A	47452009	G	A	47452009	2	1	170	1	0	0	0	0	0	0	0	1	12796	1074	38	1		1	PTPN23	3	47452009	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	8144326	47452009	150570421	9	11965											
EPHA3	2042	genome.wustl.edu	37	chr3	89478261	89478261	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttactgtatatctaggtaagCcagttatgattgtcacagaa	8	6	2	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr3:89478261C>A	ENST00000336596.2	+	12	2305	c.2080C>A	c.(2080-2082)Cca>Aca	p.P694T	EPHA3_ENST00000494014.1_Missense_Mutation_p.P694T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TCTAGGTAAGCCAGTTATGAT	0.299										TSP Lung(6;0.00050)																																							0								ENSG00000044524						96	101	99					3																	89478261		2203	4300	6503	EPHA3	SO:0001583	missense	0			-	HGNC	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.2080C>A	3.37:g.89478261C>A	ENSP00000337451:p.Pro694Thr	Somatic	0	49	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q9H2V3|Q9H2V4	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P694T	ENST00000336596.2	37	c.2080	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438627	0.83885	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83914	-1.78;-1.78	5.68	5.68	0.88126	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	0.91848	0.7420	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91037	0.4868	9	.	.	.	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	694	P29320	EPHA3_HUMAN	T	694	ENSP00000337451:P694T;ENSP00000419190:P694T	.	P	+	1	0	EPHA3	89560951	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	CCA	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.299	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	C	NM_005233	-		89478261	1	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89478261	C	A	89478261	3	1	170	1	0	0	0	0	1	0	0	0	5170	739	26	3	2152	3	EPHA3	3	89478261	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	42026252	89478261	108544169	10	11966											
KIAA1524	57650	genome.wustl.edu	37	chr3	108273288	108273288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttgtttattcagagaAtcacatgtgatctgtaaatc	6	6	4	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr3:108273288A>T	ENST00000295746.8	-	18	2335	c.2259T>A	c.(2257-2259)gaT>gaA	p.D753E	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D594E	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	753					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATTCAGAGAATCACATGTGA	0.308																																																	0								ENSG00000163507						75	70	72					3																	108273288		2200	4293	6493	KIAA1524	SO:0001583	missense	0			-	HGNC	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2259T>A	3.37:g.108273288A>T	ENSP00000295746:p.Asp753Glu	Somatic	0	57	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.D753E	ENST00000295746.8	37	c.2259	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	A	4.835	0.155305	0.09236	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.17854	2.25;2.25	5.15	1.24	0.21308	.	0.390446	0.29172	N	0.012926	T	0.06962	0.0177	N	0.16478	0.41	0.21915	N	0.999472	B	0.06786	0.001	B	0.06405	0.002	T	0.41574	-0.9501	10	0.05721	T	0.95	-5.4114	5.7182	0.17972	0.6272:0.0:0.0746:0.2982	.	753	Q8TCG1	CIP2A_HUMAN	E	594;753	ENSP00000419487:D594E;ENSP00000295746:D753E	ENSP00000295746:D753E	D	-	3	2	KIAA1524	109755978	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.828000	0.27435	0.024000	0.15214	0.528000	0.53228	GAT	-	NULL		0.308	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	protein_coding	OTTHUMT00000353975.2	A	NM_020890	-		108273288	-1	no_errors	ENST00000295746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108273288	A	T	108273288	3	4	170	1	0	0	0	0	1	0	0	0	8241	98	4	5	474	5	KIAA1524	3	108273288	Missense_Mutation	SNP	A	TCGA-K1-A42X-01A-11D-A24N-09	18795027	108273288	89749142	11	11967											
FRYL	285527	genome.wustl.edu	37	chr4	48551622	48551622	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtcgccaattagaaTaaagtggcattgaatcacct	7	9	2	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr4:48551622T>A	ENST00000503238.1	-	36	4651	c.4652A>T	c.(4651-4653)tAt>tTt	p.Y1551F	FRYL_ENST00000537810.1_Missense_Mutation_p.Y1551F|FRYL_ENST00000358350.4_Missense_Mutation_p.Y1551F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1551					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						CCAATTAGAATAAAGTGGCAT	0.433																																																	0								ENSG00000075539						120	115	117					4																	48551622		1933	4127	6060	FRYL	SO:0001583	missense	0			-	HGNC	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.4652A>T	4.37:g.48551622T>A	ENSP00000426064:p.Tyr1551Phe	Somatic	0	35	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.Y1551F	ENST00000503238.1	37	c.4652	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.24|15.24	2.775966|2.775966	0.49786|0.49786	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	T|T;T;T	0.32988|0.23950	1.43|1.88;1.88;1.88	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.27454|0.27454	0.0674|0.0674	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.14012	.|0.002;0.009;0.009	.|B;B;B	.|0.23419	.|0.004;0.016;0.046	T|T	0.07616|0.07616	-1.0763|-1.0763	6|10	.|0.18276	.|T	.|0.48	.|.	10.8929|10.8929	0.47006|0.47006	0.1402:0.0:0.0:0.8598|0.1402:0.0:0.0:0.8598	.|.	.|382;1551;1551	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	F|F	421|1551	ENSP00000425344:L421F|ENSP00000426064:Y1551F;ENSP00000351113:Y1551F;ENSP00000441114:Y1551F	.|ENSP00000351113:Y1551F	L|Y	-|-	3|2	2|0	FRYL|FRYL	48246379|48246379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.804000|5.804000	0.69135|0.69135	2.108000|2.108000	0.64289|0.64289	0.533000|0.533000	0.62120|0.62120	TTA|TAT	-	superfamily_ARM-type_fold		0.433	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	T		-		48551622	-1	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48551622	T	A	48551622	3	1	170	1	0	0	0	0	1	0	0	0	6066	1406	49	5	4493	5	FRYL	4	48551622	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09		48551622	142602654	12	11968											
KDR	3791	genome.wustl.edu	37	chr4	55981139	55981139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcatgtagctgggaAtagtaaagcccttcttgctg	11	8	2	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr4:55981139A>G	ENST00000263923.4	-	5	855	c.560T>C	c.(559-561)aTt>aCt	p.I187T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	187	Ig-like C2-type 2.				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)	GTAGCTGGGAATAGTAAAGCC	0.373			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0								ENSG00000128052						75	75	75					4																	55981139		2203	4300	6503	KDR	SO:0001583	missense	0			-	HGNC	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.560T>C	4.37:g.55981139A>G	ENSP00000263923:p.Ile187Thr	Somatic	0	38	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.I187T	ENST00000263923.4	37	c.560	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220347	0.79464	.	.	ENSG00000128052	ENST00000263923	T	0.10763	2.84	5.9	5.9	0.94986	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.311123	0.35903	N	0.002920	T	0.32071	0.0817	M	0.73598	2.24	0.42954	D	0.994387	D;P	0.56968	0.978;0.653	P;B	0.61533	0.89;0.432	T	0.03773	-1.1005	10	0.87932	D	0	.	16.315	0.82915	1.0:0.0:0.0:0.0	.	187;187	P35968-2;P35968	.;VGFR2_HUMAN	T	187	ENSP00000263923:I187T	ENSP00000263923:I187T	I	-	2	0	KDR	55675896	1.000000	0.71417	0.540000	0.28089	0.969000	0.65631	8.558000	0.90704	2.250000	0.74265	0.533000	0.62120	ATT	-	smart_Ig_sub,prints_VEGFR2_rcpt		0.373	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	A		-		55981139	-1	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	SNP	0.901	G	G	55981139	A	G	55981139	3	3	170	1	0	0	0	0	1	0	0	0	8141	101	4	5	3614	5	KDR	4	55981139	Missense_Mutation	SNP	A	TCGA-K1-A42X-01A-11D-A24N-09	7429517	55981139	135173137	13	11969											
RUFY3	22902	genome.wustl.edu	37	chr4	71588302	71588302	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagtcatcatgtctgctctGacgcctccgaccgatatgcc	9	14	4	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr4:71588302G>T	ENST00000226328.4	+	1	575	c.12G>T	c.(10-12)ctG>ctT	p.L4L	RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_Silent_p.L4L|RUFY3_ENST00000536664.1_5'Flank	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	4					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TGTCTGCTCTGACGCCTCCGA	0.502																																																	0								ENSG00000018189						159	134	143					4																	71588302		2203	4300	6503	RUFY3	SO:0001819	synonymous_variant	0			-	HGNC	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.12G>T	4.37:g.71588302G>T		Somatic	0	54	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP							pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.L4	ENST00000226328.4	37	c.12	CCDS3547.1	4																																																																																			-	NULL		0.502	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	protein_coding	OTTHUMT00000252161.2	G	NM_014961	-		71588302	1	no_errors	ENST00000226328	ensembl	human	known	74_37	silent	SNP	1.000	T	T	71588302	G	T	71588302	2	4	170	1	0	0	0	0	0	0	0	1	13748	1277	45	3		3	RUFY3	4	71588302	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	15607163	71588302	119565974	14	11970											
SLC6A3	6531	genome.wustl.edu	37	chr5	1432617	1432617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggtcccaaaagtgtcGttgaggcccgagctgtctcc	14	11	1	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr5:1432617G>A	ENST00000270349.9	-	4	742	c.615C>T	c.(613-615)aaC>aaT	p.N205N	SLC6A3_ENST00000453492.2_Silent_p.N205N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	205					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.N205N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAAAAGTGTCGTTGAGGCCCG	0.617																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000142319						96	85	88					5																	1432617		2203	4300	6503	SLC6A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.615C>T	5.37:g.1432617G>A		Somatic	0	39	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	A2RUN4|Q14996	Silent	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.N205	ENST00000270349.9	37	c.615	CCDS3863.1	5																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	protein_coding	OTTHUMT00000253650.3	G	NM_001044	-		1432617	-1	no_errors	ENST00000270349	ensembl	human	known	74_37	silent	SNP	0.989	A	A	1432617	G	A	1432617	2	1	170	1	0	0	0	0	0	0	0	1	14693	1136	40	1		1	SLC6A3	5	1432617	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		1432617	179482643	15	11971											
MYO10	4651	genome.wustl.edu	37	chr5	16766285	16766285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgggtccagcccaagTaactccgcagatctgcccaa	10	13	1	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr5:16766285T>G	ENST00000513610.1	-	11	1537	c.1083A>C	c.(1081-1083)ttA>ttC	p.L361F		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	361	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGCCCAAGTAACTCCGCAG	0.512																																																	0								ENSG00000145555						107	105	106					5																	16766285		1952	4159	6111	MYO10	SO:0001583	missense	0			-	HGNC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1083A>C	5.37:g.16766285T>G	ENSP00000421280:p.Leu361Phe	Somatic	0	26	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.L361F	ENST00000513610.1	37	c.1083	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802915	0.70682	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.81163	-1.46;-1.46	5.05	1.06	0.20224	Myosin head, motor domain (2);	.	.	.	.	D	0.88276	0.6393	M	0.89353	3.025	0.80722	D	1	D	0.54397	0.966	P	0.62885	0.908	D	0.86353	0.1712	9	0.87932	D	0	.	8.7465	0.34589	0.0:0.2878:0.0:0.7122	.	361	Q9HD67	MYO10_HUMAN	F	361;372	ENSP00000421280:L361F;ENSP00000421309:L372F	ENSP00000421280:L361F	L	-	3	2	MYO10	16819285	0.720000	0.27996	0.997000	0.53966	0.963000	0.63663	-0.280000	0.08468	-0.047000	0.13423	0.482000	0.46254	TTA	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.512	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	protein_coding	OTTHUMT00000366167.1	T	NM_012334	-		16766285	-1	no_errors	ENST00000513610	ensembl	human	known	74_37	missense	SNP	0.998	G	G	16766285	T	G	16766285	3	3	170	1	0	0	0	0	1	0	0	0	10064	1635	57	5	5217	5	MYO10	5	16766285	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09	15333668	16766285	164148975	16	11972											
HARS2	23438	genome.wustl.edu	37	chr5	140073605	140073605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttaaacgtcatggagCaaaggggatggacaccccag	12	10	1	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr5:140073605C>A	ENST00000230771.3	+	3	492	c.269C>A	c.(268-270)gCa>gAa	p.A90E	HARS_ENST00000438307.2_5'Flank|HARS_ENST00000457527.2_5'Flank|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000432671.2_Intron|HARS_ENST00000448240.1_5'Flank|HARS_ENST00000431330.2_5'Flank|HARS_ENST00000504156.1_5'Flank|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000508522.1_Missense_Mutation_p.A65E|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000435019.2_Intron|HARS2_ENST00000437649.2_Missense_Mutation_p.A90E|HARS_ENST00000415192.2_5'Flank	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	90					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCATGGAGCAAAGGGGATG	0.473																																																	0								ENSG00000112855						139	140	140					5																	140073605		2203	4300	6503	HARS2	SO:0001583	missense	0			-	HGNC	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4817	protein-coding gene	gene with protein product	"histidine tRNA ligase 2, mitochondrial (putative)"	600783	"histidyl-tRNA synthetase-like"	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.269C>A	5.37:g.140073605C>A	ENSP00000230771:p.Ala90Glu	Somatic	0	71	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	B4DDY8	Missense_Mutation	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase	p.A90E	ENST00000230771.3	37	c.269	CCDS4238.1	5	.	.	.	.	.	.	.	.	.	.	c	27.5	4.836201	0.91117	.	.	ENSG00000112855	ENST00000230771;ENST00000509299;ENST00000503873;ENST00000437649;ENST00000508522	T;T;T;T;T	0.66638	1.0;1.39;1.39;-0.22;1.0	6.17	5.3	0.74995	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.999;0.999	P;D;D;D	0.77557	0.782;0.99;0.99;0.99	D	0.92139	0.5719	10	0.59425	D	0.04	-8.1182	17.7532	0.88441	0.0:0.8778:0.1222:0.0	.	90;65;90;90	E9PG66;B4DDY8;B2R7G6;P49590	.;.;.;SYHM_HUMAN	E	90;96;96;90;65	ENSP00000230771:A90E;ENSP00000425695:A96E;ENSP00000424516:A96E;ENSP00000411708:A90E;ENSP00000423616:A65E	ENSP00000230771:A90E	A	+	2	0	HARS2	140053789	1.000000	0.71417	0.951000	0.38953	0.885000	0.51271	5.689000	0.68234	1.616000	0.50265	0.655000	0.94253	GCA	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase		0.473	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS2	protein_coding	OTTHUMT00000251670.2	C	NM_012208	-		140073605	1	no_errors	ENST00000230771	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140073605	C	A	140073605	3	1	170	1	0	0	0	0	1	0	0	0	6962	710	25	3	279	3	HARS2	5	140073605	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	123307320	140073605	40841655	17	11973											
PTTG1	9232	genome.wustl.edu	37	chr5	159854773	159854773	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagattgcgcacctcccctTgagtggagtgcctctcatga	10	14	1	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr5:159854773T>G	ENST00000393964.1	+	4	825	c.422T>G	c.(421-423)tTg>tGg	p.L141W	PTTG1_ENST00000352433.5_Missense_Mutation_p.L141W|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000520452.1_Missense_Mutation_p.L141W	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		CACCTCCCCTTGAGTGGAGTG	0.527																																																	0								ENSG00000164611						102	95	97					5																	159854773		2203	4300	6503	PTTG1	SO:0001583	missense	0			-	HGNC	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"ESP1-associated protein 1", "tumor-transforming protein 1"	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.422T>G	5.37:g.159854773T>G	ENSP00000377536:p.Leu141Trp	Somatic	0	64	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00		Missense_Mutation	SNP							pfam_Securin_separation_inhibitor	p.L141W	ENST00000393964.1	37	c.422	CCDS4353.1	5	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323287	0.81580	.	.	ENSG00000164611	ENST00000352433;ENST00000520452;ENST00000393964	T;T;T	0.54279	0.58;0.58;0.58	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.73202	0.3557	M	0.83603	2.65	0.46678	D	0.999157	D	0.89917	1.0	D	0.97110	1.0	T	0.76408	-0.2970	9	.	.	.	-9.8304	12.3307	0.55038	0.0:0.0:0.0:1.0	.	141	O95997	PTTG1_HUMAN	W	141	ENSP00000344936:L141W;ENSP00000430642:L141W;ENSP00000377536:L141W	.	L	+	2	0	PTTG1	159787351	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.328000	0.59253	2.160000	0.67779	0.533000	0.62120	TTG	-	pfam_Securin_separation_inhibitor		0.527	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1	protein_coding	OTTHUMT00000252677.1	T	NM_004219	-		159854773	1	no_errors	ENST00000352433	ensembl	human	known	74_37	missense	SNP	1.000	G	G	159854773	T	G	159854773	3	3	170	1	0	0	0	0	1	0	0	0	12827	1821	63	5	436	5	PTTG1	5	159854773	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09	19781168	159854773	21060487	18	11974											
KCNQ5	56479	genome.wustl.edu	37	chr6	73904416	73904416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgcagttcattctgaCgccaaatgagttcagtgccc	10	12	3	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr6:73904416C>T	ENST00000370398.1	+	14	2187	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	KCNQ5_ENST00000342056.2_Missense_Mutation_p.T712M|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T684M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T703M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T694M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T693M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T583M	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	693					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTCATTCTGACGCCAAATGAG	0.502																																					GBM(142;1375 1859 14391 23261 44706)												0								ENSG00000185760						129	129	129					6																	73904416		2203	4300	6503	KCNQ5	SO:0001583	missense	0			-	HGNC	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2078C>T	6.37:g.73904416C>T	ENSP00000359425:p.Thr693Met	Somatic	0	17	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T703M	ENST00000370398.1	37	c.2108	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526532	0.64860	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99470	-5.71;-5.72;-5.72;-5.71;-5.73;-5.76;-5.96	5.32	5.32	0.75619	.	0.064303	0.64402	D	0.000008	D	0.99248	0.9738	L	0.54323	1.7	0.30218	N	0.797104	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.999;0.997	D;P;P;P;P	0.74674	0.984;0.862;0.814;0.825;0.683	D	0.98212	1.0473	10	0.66056	D	0.02	-5.9378	18.9881	0.92780	0.0:1.0:0.0:0.0	.	583;703;712;684;693	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	M	712;712;693;693;703;694;684;583	ENSP00000345055:T712M;ENSP00000347326:T693M;ENSP00000359425:T693M;ENSP00000385501:T703M;ENSP00000347853:T694M;ENSP00000384453:T684M;ENSP00000409861:T583M	ENSP00000345055:T712M	T	+	2	0	KCNQ5	73961137	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.454000	0.60068	2.486000	0.83907	0.561000	0.74099	ACG	-	NULL		0.502	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	C	NM_019842	-		73904416	1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73904416	C	T	73904416	3	4	170	1	0	0	0	0	1	0	0	0	8088	536	19	1	2193	1	KCNQ5	6	73904416	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09		73904416	97210651	19	11975											
GRM3	2913	genome.wustl.edu	37	chr7	86394618	86394618	+	Missense_Mutation	SNP	G	G	A													ctattaacgaaaaaggcactGgaactgaagaatgtgggcga							TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr7:86394618G>A	ENST00000361669.2	+	2	1256	c.157G>A	c.(157-159)Gga>Aga	p.G53R	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.G51R|GRM3_ENST00000439827.1_Missense_Mutation_p.G53R|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	53					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)					AAAAGGCACTGGAACTGAAGA	0.408																																					GBM(52;969 1098 3139 52280)												0								ENSG00000198822						127	125	126					7																	86394618		2203	4300	6503	GRM3	SO:0001583	missense	0			-	HGNC		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.157G>A	7.37:g.86394618G>A	ENSP00000355316:p.Gly53Arg	Somatic	0	30	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.G53R	ENST00000361669.2	37	c.157	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	18.78	3.695939	0.68386	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.45285	1.41	0.80722	D	1	P;P	0.43519	0.615;0.809	B;B	0.40375	0.327;0.317	T	0.74247	-0.3727	10	0.09590	T	0.72	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	53;53	G5E9K2;Q14832	.;GRM3_HUMAN	R	53;53;51;53;53	ENSP00000355316:G53R;ENSP00000398767:G53R;ENSP00000378209:G51R;ENSP00000390037:G53R;ENSP00000407490:G53R	ENSP00000355316:G53R	G	+	1	0	GRM3	86232554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.732000	0.93576	0.655000	0.94253	GGA	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G		-		86394618	1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86394618	G	A	86394618	3	1	170	1	0	0	0	0	1	0	0	0	6800	1349	47	2	159	2	GRM3	7	86394618	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		86394618	72744045	20	11976	186	2									
GRM3	2913	genome.wustl.edu	37	chr7	86394619	86394619	+	Missense_Mutation	SNP	G	G	T													tattaacgaaaaaggcactgGaactgaagaatgtgggcgaa							TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr7:86394619G>T	ENST00000361669.2	+	2	1257	c.158G>T	c.(157-159)gGa>gTa	p.G53V	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.G51V|GRM3_ENST00000439827.1_Missense_Mutation_p.G53V|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	53					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)					AAAGGCACTGGAACTGAAGAA	0.408																																					GBM(52;969 1098 3139 52280)												0								ENSG00000198822						128	126	127					7																	86394619		2203	4300	6503	GRM3	SO:0001583	missense	0			-	HGNC		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.158G>T	7.37:g.86394619G>T	ENSP00000355316:p.Gly53Val	Somatic	0	29	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.G53V	ENST00000361669.2	37	c.158	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485484	0.84854	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	L	0.52905	1.665	0.80722	D	1	P;B	0.48998	0.918;0.376	P;B	0.47744	0.556;0.166	T	0.82969	-0.0193	10	0.36615	T	0.2	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	53;53	G5E9K2;Q14832	.;GRM3_HUMAN	V	53;53;51;53;53	ENSP00000355316:G53V;ENSP00000398767:G53V;ENSP00000378209:G51V;ENSP00000390037:G53V;ENSP00000407490:G53V	ENSP00000355316:G53V	G	+	2	0	GRM3	86232555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.358000	0.73055	2.732000	0.93576	0.655000	0.94253	GGA	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G		-		86394619	1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86394619	G	T	86394619	3	4	170	1	0	0	0	0	1	0	0	0	6800	1174	41	3	160	3	GRM3	7	86394619	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	1	86394619	72744044	21	11977	186	2									
SRI	6717	genome.wustl.edu	37	chr7	87840220	87840220	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcattgaaaccataagccGgcaagtctccaggttaaaag	9	10	1	1	rs368954008		TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr7:87840220G>T	ENST00000265729.2	-	4	278	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	SRI_ENST00000490437.1_Silent_p.R33R|SRI_ENST00000431660.1_Silent_p.R61R|SRI_ENST00000419179.1_Silent_p.R76R|SRI_ENST00000394641.3_Silent_p.R61R	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	76	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.R76W(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ACCATAAGCCGGCAAGTCTCC	0.284																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000075142						51	52	52					7																	87840220		2203	4295	6498	SRI	SO:0001819	synonymous_variant	0			-	HGNC	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.226C>A	7.37:g.87840220G>T		Somatic	0	57	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8MTH6|B4DKK2|D6W5Q0	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.R76	ENST00000265729.2	37	c.226	CCDS5612.1	7																																																																																			-	smart_EF_hand_dom		0.284	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRI	protein_coding	OTTHUMT00000253680.1	G	NM_003130	-		87840220	-1	no_errors	ENST00000265729	ensembl	human	known	74_37	silent	SNP	1.000	T	T	87840220	G	T	87840220	2	4	170	1	0	0	0	0	0	0	0	1	15156	1115	39	3		3	SRI	7	87840220	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	1445601	87840220	71298443	22	11978											
PIP	5304	genome.wustl.edu	37	chr7	142829269	142829269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgctcctggttctctgCctgcagttgggggccaacaa	11	14	1	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr7:142829269C>T	ENST00000291009.3	+	1	100	c.60C>T	c.(58-60)tgC>tgT	p.C20C		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	20					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGGTTCTCTGCCTGCAGTTGG	0.577																																																	0								ENSG00000159763						186	178	181					7																	142829269		2203	4299	6502	PIP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.60C>T	7.37:g.142829269C>T		Somatic	0	42	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP							pfam_SV_autoAg,pirsf_SV_autoAg	p.C20	ENST00000291009.3	37	c.60	CCDS34768.1	7																																																																																			-	pfam_SV_autoAg,pirsf_SV_autoAg		0.577	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	protein_coding	OTTHUMT00000327089.1	C	NM_002652	-		142829269	1	no_errors	ENST00000291009	ensembl	human	known	74_37	silent	SNP	0.887	T	T	142829269	C	T	142829269	2	4	170	1	0	0	0	0	0	0	0	1	11937	747	26	2		2	PIP	7	142829269	Silent	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	54989049	142829269	16309394	23	11979											
CYP11B2	1585	genome.wustl.edu	37	chr8	143994865	143994865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcagcaagggaaacgcTgtctacagaagccatgtctg	11	10	4	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr8:143994865T>C	ENST00000323110.2	-	6	959	c.957A>G	c.(955-957)acA>acG	p.T319T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	319					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGGGAAACGCTGTCTACAGAA	0.632									Familial Hyperaldosteronism type I																																								0								ENSG00000179142						67	62	63					8																	143994865		2203	4300	6503	CYP11B2	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.957A>G	8.37:g.143994865T>C		Somatic	0	60	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	B0ZBE4|Q16726	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.T319	ENST00000323110.2	37	c.957	CCDS6393.1	8																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	protein_coding	OTTHUMT00000359904.1	T		-		143994865	-1	no_errors	ENST00000323110	ensembl	human	known	74_37	silent	SNP	0.000	C	C	143994865	T	C	143994865	2	2	170	1	0	0	0	0	0	0	0	1	4148	1567	55	5		5	CYP11B2	8	143994865	Silent	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09		143994865	2369157	24	11980											
FREM1	158326	genome.wustl.edu	37	chr9	14842509	14842509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggactatcatctttgggcaAgacgttgatggggaatttgt	14	5	2	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr9:14842509A>C	ENST00000380880.3	-	9	2326	c.1543T>G	c.(1543-1545)Ttg>Gtg	p.L515V	FREM1_ENST00000422223.2_Missense_Mutation_p.L515V|FREM1_ENST00000380881.4_Missense_Mutation_p.L516V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	515					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTGGGCAAGACGTTGATG	0.507																																																	0								ENSG00000164946						145	145	145					9																	14842509		2038	4193	6231	FREM1	SO:0001583	missense	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1543T>G	9.37:g.14842509A>C	ENSP00000370262:p.Leu515Val	Somatic	0	36	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L516V	ENST00000380880.3	37	c.1546	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607230	0.66558	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27256	1.68;1.68;1.68	5.93	2.33	0.28932	.	0.096026	0.52532	D	0.000073	T	0.32793	0.0841	L	0.44542	1.39	0.45762	D	0.998656	D	0.89917	1.0	D	0.91635	0.999	T	0.25676	-1.0125	10	0.11794	T	0.64	-9.8604	6.267	0.20932	0.4781:0.0:0.5219:0.0	.	515	Q5H8C1	FREM1_HUMAN	V	516;515;515	ENSP00000370263:L516V;ENSP00000412940:L515V;ENSP00000370262:L515V	ENSP00000370257:L518V	L	-	1	2	FREM1	14832509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.165000	0.50778	0.506000	0.28125	-0.274000	0.10170	TTG	-	NULL		0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	A	NM_144966	-		14842509	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	SNP	1.000	C	C	14842509	A	C	14842509	3	2	170	1	0	0	0	0	1	0	0	0	6046	69	3	5	5162	5	FREM1	9	14842509	Missense_Mutation	SNP	A	TCGA-K1-A42X-01A-11D-A24N-09		14842509	126370922	25	11981											
FAM166B	730112	genome.wustl.edu	37	chr9	35563376	35563376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgaagtagtgggcagtGtccagtgtacctgcagcaca	13	10	0	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr9:35563376G>T	ENST00000399742.2	-	2	143	c.73C>A	c.(73-75)Cac>Aac	p.H25N	FAM166B_ENST00000492890.1_Intron	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	25										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AGTGGGCAGTGTCCAGTGTAC	0.627																																																	0								ENSG00000215187						23	29	27					9																	35563376		2128	4239	6367	FAM166B	SO:0001583	missense	0			-	HGNC	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.73C>A	9.37:g.35563376G>T	ENSP00000382646:p.His25Asn	Somatic	0	17	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A1L3B2|B7ZBJ0	Missense_Mutation	SNP							pfam_UPF0573/UPF0605	p.H25N	ENST00000399742.2	37	c.73	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512299	0.85389	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	T	0.57273	0.41	5.76	5.76	0.90799	.	0.162163	0.24730	U	0.036078	T	0.71986	0.3405	M	0.76574	2.34	0.43830	D	0.996407	D;D;D;D	0.76494	0.999;0.993;0.999;0.998	D;D;D;D	0.78314	0.977;0.953;0.958;0.991	T	0.71774	-0.4491	9	.	.	.	-20.0009	15.463	0.75373	0.0:0.0:1.0:0.0	.	25;25;25;25	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	N	25	ENSP00000382646:H25N	.	H	-	1	0	FAM166B	35553376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.323000	0.43823	2.720000	0.93068	0.561000	0.74099	CAC	-	pfam_UPF0573/UPF0605		0.627	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	protein_coding	OTTHUMT00000336563.1	G	NM_001099951	-		35563376	-1	no_errors	ENST00000447837	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35563376	G	T	35563376	3	4	170	1	0	0	0	0	1	0	0	0	5484	1377	48	3	593	3	FAM166B	9	35563376	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	20720867	35563376	105650055	26	11982											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88937852	88937854	+	In_Frame_Del	DEL	TTT	TTT	-													cagactgatccacaggtgaaTttttttcttcacatacattt					rs58050565|rs77621374|rs200402481|rs397759922	byFrequency	TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	TTT	TTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr9:88937852_88937854delTTT	ENST00000375963.3	-	13	2983_2985	c.2811_2813delAAA	c.(2809-2814)aaaaat>aat	p.K937del	ZCCHC6_ENST00000375961.2_In_Frame_Del_p.K937del|ZCCHC6_ENST00000375960.2_In_Frame_Del_p.K814del|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_In_Frame_Del_p.K226del	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	937				Missing (in Ref. 1; CAI45944/CAH56219). {ECO:0000305}.	RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.N938delN(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CACAGGTGAATTTTTTTCTTCAC	0.345														2624	0.523962	0.562	0.4899	5008	,	,		19309	0.4792		0.5417	False		,,,				2504	0.5245																1	Deletion - In frame(1)	large_intestine(1)						ENSG00000083223		,,	2377,1887		665,1047,420					,,	4.1	1		dbSNP_129	62	4461,3793		1183,2095,849	no	coding,coding,coding	ZCCHC6	NM_024617.3,NM_001185074.1,NM_001185059.1	,,	1848,3142,1269	A1A1,A1R,RR		45.9535,44.2542,45.3747	,,	,,		6838,5680				ZCCHC6	SO:0001651	inframe_deletion	0				HGNC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2811_2813delAAA	9.37:g.88937855_88937857delTTT	ENSP00000365130:p.Lys937del	Somatic	0	27	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	In_Frame_Del	DEL							pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.K937in_frame_del	ENST00000375963.3	37	c.2813_2811	CCDS35057.1	9																																																																																			-	NULL		0.345	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	protein_coding	OTTHUMT00000052918.1	TTT	NM_024617			88937854	-1	no_errors	ENST00000375963	ensembl	human	known	74_37	in_frame_del	DEL	0.904:0.484:0.228	-	-	88937854	TTT	-	88937852	7	5	170	1	0	1	0	1	0	0	0	0	17599	1493	52	0	1734	0	ZCCHC6	9	88937852	In_Frame_Del	DEL	TTT	TCGA-K1-A42X-01A-11D-A24N-09	53374476	88937852	52275579	27	11983											
PPP3R2	116443	genome.wustl.edu	37	chr9	104356954	104356954	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcctcgtcgcccttgaCgctgaactgggaggtcccca	11	16	0	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr9:104356954C>G	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.V87L	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCGCCCTTGACGCTGAACTGG	0.542																																																	0								ENSG00000188386						119	114	116					9																	104356954		2203	4300	6503	PPP3R2	SO:0001627	intron_variant	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15312G>C	9.37:g.104356954C>G		Somatic	0	51	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V87L	ENST00000361820.3	37	c.259	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	8.309	0.821677	0.16678	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.28895	1.59	3.97	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.37857	N	0.001909	T	0.29749	0.0743	L	0.51422	1.61	0.44899	D	0.997917	B	0.02656	0.0	B	0.06405	0.002	T	0.15752	-1.0426	10	0.59425	D	0.04	-38.3665	14.3488	0.66685	0.0:1.0:0.0:0.0	.	84	Q96LZ3	CANB2_HUMAN	L	87	ENSP00000363939:V87L	ENSP00000363939:V87L	V	-	1	0	PPP3R2	103396775	1.000000	0.71417	0.936000	0.37596	0.348000	0.29142	3.688000	0.54699	2.507000	0.84556	0.563000	0.77884	GTC	-	pfscan_EF_hand_dom		0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	protein_coding	OTTHUMT00000053453.1	C		-		104356954	-1	no_errors	ENST00000374806	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104356954	C	G	104356954	1	3	170	0	1	0	0	0	0	0	0	0	12406	536	19	4		4	PPP3R2	9	104356954	Intron	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	15419102	104356954	36856477	28	11984											
DFNB31	25861	genome.wustl.edu	37	chr9	117240969	117240969	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgggtccacccaggtgTagatgtggttggtgacgtag	16	9	0	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr9:117240969T>A	ENST00000362057.3	-	2	869	c.701A>T	c.(700-702)tAc>tTc	p.Y234F	DFNB31_ENST00000374057.3_Missense_Mutation_p.Y234F|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	234					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACCCAGGTGTAGATGTGGTT	0.667																																																	0								ENSG00000095397						38	36	37					9																	117240969		2203	4300	6503	DFNB31	SO:0001583	missense	0			-	HGNC	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.701A>T	9.37:g.117240969T>A	ENSP00000354623:p.Tyr234Phe	Somatic	0	61	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Y234F	ENST00000362057.3	37	c.701	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890673	0.91889	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.16743	2.32;2.32	5.53	5.53	0.82687	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.993;0.995	T	0.17077	-1.0381	10	0.16896	T	0.51	-23.1489	15.6591	0.77169	0.0:0.0:0.0:1.0	.	234;234;234	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	F	234	ENSP00000354623:Y234F;ENSP00000363170:Y234F	ENSP00000354623:Y234F	Y	-	2	0	DFNB31	116280790	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.630000	0.83225	2.097000	0.63578	0.374000	0.22700	TAC	-	superfamily_PDZ		0.667	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	T	NM_015404	-		117240969	-1	no_errors	ENST00000362057	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117240969	T	A	117240969	3	1	170	1	0	0	0	0	1	0	0	0	4457	1638	57	5	2066	5	DFNB31	9	117240969	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09	12884015	117240969	23972462	29	11985											
GTPBP4	23560	genome.wustl.edu	37	chr10	1053042	1053042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaatagactgcacctgGctatcccaaccaggagggac	11	12	0	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr10:1053042G>A	ENST00000360803.4	+	10	1169	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.A247T|GTPBP4_ENST00000545048.1_Missense_Mutation_p.A316T	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	363					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ACTGCACCTGGCTATCCCAAC	0.502																																																	0								ENSG00000107937						113	94	101					10																	1053042		2203	4300	6503	GTPBP4	SO:0001583	missense	0			-	HGNC	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1087G>A	10.37:g.1053042G>A	ENSP00000354040:p.Ala363Thr	Somatic	0	39	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP							pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.A363T	ENST00000360803.4	37	c.1087	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249992	0.59212	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37411	1.2;1.21;1.2	5.47	5.47	0.80525	.	0.146210	0.64402	D	0.000008	T	0.45856	0.1363	M	0.82132	2.575	0.80722	D	1	P	0.45768	0.866	B	0.39562	0.303	T	0.56780	-0.7922	10	0.62326	D	0.03	-12.7396	19.7377	0.96214	0.0:0.0:1.0:0.0	.	363	Q9BZE4	NOG1_HUMAN	T	363;247;316	ENSP00000354040:A363T;ENSP00000444277:A247T;ENSP00000445473:A316T	ENSP00000354040:A363T	A	+	1	0	GTPBP4	1043042	1.000000	0.71417	0.063000	0.19743	0.026000	0.11368	9.350000	0.97070	2.733000	0.93635	0.650000	0.86243	GCT	-	NULL		0.502	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	protein_coding	OTTHUMT00000046412.1	G	NM_012341	-		1053042	1	no_errors	ENST00000360803	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1053042	G	A	1053042	3	1	170	1	0	0	0	0	1	0	0	0	6884	1203	42	2	1125	2	GTPBP4	10	1053042	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		1053042	134481705	30	11986											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702287	27702287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcctccgaagaagccgGtcaggtagaggggatgcctg	15	9	1	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr10:27702287G>T	ENST00000438700.3	-	1	1010	c.893C>A	c.(892-894)aCc>aAc	p.T298N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	298					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGAAGCCGGTCAGGTAGAG	0.602																																																	0								ENSG00000182077						58	62	61					10																	27702287		2203	4300	6503	PTCHD3	SO:0001583	missense	0			-	HGNC	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.893C>A	10.37:g.27702287G>T	ENSP00000417658:p.Thr298Asn	Somatic	0	66	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	33	44.07	I3L499|Q6ZU28	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.T298N	ENST00000438700.3	37	c.893	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	6.329	0.428807	0.11987	.	.	ENSG00000182077	ENST00000438700	D	0.85258	-1.96	3.98	-0.511	0.11970	.	0.662147	0.14294	N	0.328709	T	0.74168	0.3681	N	0.22421	0.69	0.09310	N	1	P	0.35011	0.48	B	0.40329	0.326	T	0.63998	-0.6510	10	0.41790	T	0.15	-1.636	5.6034	0.17367	0.0923:0.5381:0.2508:0.1188	.	298	Q3KNS1	PTHD3_HUMAN	N	298	ENSP00000417658:T298N	ENSP00000417658:T298N	T	-	2	0	PTCHD3	27742293	0.710000	0.27896	0.001000	0.08648	0.225000	0.24961	1.104000	0.31074	0.100000	0.17581	-0.304000	0.09214	ACC	-	pfam_Patched		0.602	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	protein_coding	OTTHUMT00000047325.3	G	XM_370541	-		27702287	-1	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	SNP	0.255	T	T	27702287	G	T	27702287	3	4	170	1	0	0	0	0	1	0	0	0	12739	1261	44	3	1426	3	PTCHD3	10	27702287	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	26649245	27702287	107832460	31	11987											
DCHS1	8642	genome.wustl.edu	37	chr11	6651257	6651257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgcagccggaagtggcCgtccccgccagatgccagcc	14	15	0	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr11:6651257C>T	ENST00000299441.3	-	10	5179	c.4768G>A	c.(4768-4770)Ggc>Agc	p.G1590S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1590	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGAAGTGGCCGTCCCCGCCA	0.682																																																	0								ENSG00000166341						23	24	24					11																	6651257		2200	4296	6496	DCHS1	SO:0001583	missense	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4768G>A	11.37:g.6651257C>T	ENSP00000299441:p.Gly1590Ser	Somatic	0	43	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	O15098	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1590S	ENST00000299441.3	37	c.4768	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901799	0.72754	.	.	ENSG00000166341	ENST00000299441	T	0.53857	0.6	4.68	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.166270	0.28606	N	0.014752	T	0.59972	0.2233	L	0.41079	1.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53634	-0.8411	10	0.19147	T	0.46	.	12.2686	0.54693	0.0:0.9165:0.0:0.0835	.	1590	Q96JQ0	PCD16_HUMAN	S	1590	ENSP00000299441:G1590S	ENSP00000299441:G1590S	G	-	1	0	DCHS1	6607833	0.981000	0.34729	0.993000	0.49108	0.502000	0.33828	1.793000	0.38764	1.184000	0.42957	0.407000	0.27541	GGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	C	NM_003737	-		6651257	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	SNP	0.997	T	T	6651257	C	T	6651257	3	4	170	1	0	0	0	0	1	0	0	0	4289	652	23	1	5176	1	DCHS1	11	6651257	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09		6651257	128355259	32	11988											
NAV2	89797	genome.wustl.edu	37	chr11	20070457	20070457	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacagcaagaatgtggacctCaaccagtctccgctagcctc	8	14	2	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr11:20070457C>A	ENST00000396087.3	+	16	4254	c.4155C>A	c.(4153-4155)ctC>ctA	p.L1385L	NAV2_ENST00000360655.4_Silent_p.L1298L|NAV2_ENST00000349880.4_Silent_p.L1362L|NAV2_ENST00000533917.1_Silent_p.L448L|NAV2_ENST00000311043.8_Silent_p.L448L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.L1316L|NAV2_ENST00000527559.2_Silent_p.L1314L|NAV2_ENST00000396085.1_Silent_p.L1362L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1385	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						ATGTGGACCTCAACCAGTCTC	0.617																																																	0								ENSG00000166833						109	94	99					11																	20070457		2203	4300	6503	NAV2	SO:0001819	synonymous_variant	0			-	HGNC	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.4155C>A	11.37:g.20070457C>A		Somatic	0	56	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	26	53.57	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L1385	ENST00000396087.3	37	c.4155	CCDS58126.1	11																																																																																			-	NULL		0.617	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	C	NM_145117	-		20070457	1	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	SNP	0.999	A	A	20070457	C	A	20070457	2	1	170	1	0	0	0	0	0	0	0	1	10186	813	29	3		3	NAV2	11	20070457	Silent	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	13419200	20070457	114936059	33	11989											
CKAP5	9793	genome.wustl.edu	37	chr11	46774244	46774244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctagcaggctgtcttggaGcaaaacaagtagggcactgg	14	8	1	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr11:46774244G>A	ENST00000529230.1	-	38	5120	c.5074C>T	c.(5074-5076)Ctc>Ttc	p.L1692F	CKAP5_ENST00000354558.3_Missense_Mutation_p.L1632F|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1692F|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1632F|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1692					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTGTCTTGGAGCAAAACAAGT	0.408																																					Ovarian(4;85 273 2202 4844 13323)												0								ENSG00000175216						93	90	91					11																	46774244		2201	4299	6500	CKAP5	SO:0001583	missense	0			-	HGNC		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5074C>T	11.37:g.46774244G>A	ENSP00000432768:p.Leu1692Phe	Somatic	0	29	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP							pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.L1692F	ENST00000529230.1	37	c.5074	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631428	0.28978	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.69040	-0.37;-0.21;-0.36;-0.36	5.24	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.059179	0.64402	D	0.000001	T	0.66790	0.2825	M	0.80616	2.505	0.52501	D	0.999957	B;B;B	0.32203	0.36;0.008;0.009	B;B;B	0.29176	0.099;0.018;0.008	T	0.69811	-0.5044	10	0.72032	D	0.01	-7.6374	12.1481	0.54034	0.0798:0.0:0.9202:0.0	.	1692;1632;1692	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	F	1692;1692;1632;1632	ENSP00000432768:L1692F;ENSP00000395302:L1692F;ENSP00000310227:L1632F;ENSP00000346566:L1632F	ENSP00000310227:L1632F	L	-	1	0	CKAP5	46730820	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	7.911000	0.87458	1.218000	0.43458	-0.145000	0.13849	CTC	-	superfamily_ARM-type_fold		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	protein_coding	OTTHUMT00000390679.1	G	NM_014756	-		46774244	-1	no_errors	ENST00000415402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46774244	G	A	46774244	3	1	170	1	0	0	0	0	1	0	0	0	3447	971	34	2	1052	2	CKAP5	11	46774244	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	26703787	46774244	88232272	34	11990											
OR4C3	256144	genome.wustl.edu	37	chr11	48347059	48347059	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcagctcctcctggtcctTtggttgcccttctgtgggcc	11	14	2	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr11:48347059T>G	ENST00000319856.4	+	1	588	c.567T>G	c.(565-567)ctT>ctG	p.L189L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	162						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTGGTCCTTTGGTTGCCCT	0.517																																																	0								ENSG00000176547						167	153	158					11																	48347059		2201	4298	6499	OR4C3	SO:0001819	synonymous_variant	0			-	HGNC	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.567T>G	11.37:g.48347059T>G		Somatic	0	112	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	74	17.78	B2RNF2|Q6IFB3	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L189	ENST00000319856.4	37	c.567	CCDS31489.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	protein_coding	OTTHUMT00000390557.1	T	NM_001004702	-		48347059	1	no_errors	ENST00000319856	ensembl	human	known	74_37	silent	SNP	0.003	G	G	48347059	T	G	48347059	2	3	170	1	0	0	0	0	0	0	0	1	11052	1828	64	5		5	OR4C3	11	48347059	Silent	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09	1572815	48347059	86659457	35	11991											
EHBP1L1	254102	genome.wustl.edu	37	chr11	65348684	65348684	+	Missense_Mutation	SNP	G	G	A													ccccctctttcttctcagttGccagcccttctaatgctgag							TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr11:65348684G>A	ENST00000309295.4	+	8	971	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	236						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTTCTCAGTTGCCAGCCCTTC	0.637																																																	0								ENSG00000173442						36	42	40					11																	65348684		1967	4137	6104	EHBP1L1	SO:0001583	missense	0			-	HGNC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.706G>A	11.37:g.65348684G>A	ENSP00000312671:p.Ala236Thr	Somatic	0	14	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	18	67.27	Q8TB89|Q9H7M7	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A236T	ENST00000309295.4	37	c.706	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585158	0.28268	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.81415	-0.16;-1.49	4.3	0.918	0.19386	.	0.640591	0.12980	N	0.423363	T	0.66086	0.2754	L	0.34521	1.04	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	T	0.61187	-0.7113	10	0.56958	D	0.05	.	7.2609	0.26203	0.0:0.3506:0.4693:0.1801	.	236	Q8N3D4	EH1L1_HUMAN	T	236	ENSP00000312671:A236T;ENSP00000431996:A236T	ENSP00000312671:A236T	A	+	1	0	EHBP1L1	65105260	0.979000	0.34478	0.985000	0.45067	0.230000	0.25150	0.577000	0.23758	0.342000	0.23796	0.655000	0.94253	GCC	-	NULL		0.637	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	protein_coding	OTTHUMT00000390145.1	G	XM_170658	-		65348684	1	no_errors	ENST00000309295	ensembl	human	known	74_37	missense	SNP	0.987	A	A	65348684	G	A	65348684	3	1	170	1	0	0	0	0	1	0	0	0	4978	1319	46	2	736	2	EHBP1L1	11	65348684	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	17001625	65348684	69657832	36	11992	187	2									
EHBP1L1	254102	genome.wustl.edu	37	chr11	65348685	65348685	+	Missense_Mutation	SNP	C	C	A													cccctctttcttctcagttgCcagcccttctaatgctgagg							TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr11:65348685C>A	ENST00000309295.4	+	8	972	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	236						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TTCTCAGTTGCCAGCCCTTCT	0.637																																																	0								ENSG00000173442						37	42	40					11																	65348685		1966	4137	6103	EHBP1L1	SO:0001583	missense	0			-	HGNC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.707C>A	11.37:g.65348685C>A	ENSP00000312671:p.Ala236Asp	Somatic	0	15	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	17	67.92	Q8TB89|Q9H7M7	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A236D	ENST00000309295.4	37	c.707	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962768	0.34659	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.81415	-0.16;-1.49	4.3	2.42	0.29668	.	0.640591	0.12980	N	0.423363	T	0.75451	0.3851	L	0.34521	1.04	0.80722	D	1	D	0.61080	0.989	P	0.50314	0.637	T	0.70197	-0.4938	10	0.54805	T	0.06	.	7.1154	0.25414	0.0:0.7856:0.0:0.2144	.	236	Q8N3D4	EH1L1_HUMAN	D	236	ENSP00000312671:A236D;ENSP00000431996:A236D	ENSP00000312671:A236D	A	+	2	0	EHBP1L1	65105261	0.987000	0.35691	0.992000	0.48379	0.222000	0.24845	0.955000	0.29188	0.395000	0.25257	-0.137000	0.14449	GCC	-	NULL		0.637	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	protein_coding	OTTHUMT00000390145.1	C	XM_170658	-		65348685	1	no_errors	ENST00000309295	ensembl	human	known	74_37	missense	SNP	0.998	A	A	65348685	C	A	65348685	3	1	170	1	0	0	0	0	1	0	0	0	4978	739	26	3	737	3	EHBP1L1	11	65348685	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	1	65348685	69657831	37	11993	187	2									
AEBP2	121536	genome.wustl.edu	37	chr12	19615524	19615524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgatgaatggacaaggaaGcactacttcttcaagcaaaa	8	7	2	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr12:19615524G>T	ENST00000398864.3	+	2	778	c.752G>T	c.(751-753)aGc>aTc	p.S251I	AEBP2_ENST00000266508.9_Missense_Mutation_p.S251I|AEBP2_ENST00000360995.4_Missense_Mutation_p.S35I|AEBP2_ENST00000541908.1_Missense_Mutation_p.S22I	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	251	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	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)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GGACAAGGAAGCACTACTTCT	0.433																																																	0								ENSG00000139154						100	93	95					12																	19615524		1932	4148	6080	AEBP2	SO:0001583	missense	0			-	HGNC		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.752G>T	12.37:g.19615524G>T	ENSP00000381840:p.Ser251Ile	Somatic	0	52	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S251I	ENST00000398864.3	37	c.752	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792929	0.50102	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;T;T;T;T	0.88124	-2.34;-0.45;-0.34;-0.52;-0.39	5.55	5.55	0.83447	.	.	.	.	.	T	0.78836	0.4346	N	0.19112	0.55	0.31118	N	0.709216	B	0.22346	0.068	B	0.13407	0.009	T	0.75374	-0.3340	9	0.49607	T	0.09	-6.3575	12.287	0.54797	0.0:0.0:0.7215:0.2784	.	251	Q6ZN18	AEBP2_HUMAN	I	22;22;251;185;251;35	ENSP00000444255:S22I;ENSP00000437983:S22I;ENSP00000381840:S251I;ENSP00000266508:S251I;ENSP00000354267:S35I	ENSP00000266508:S251I	S	+	2	0	AEBP2	19506791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.671000	0.68095	2.885000	0.99019	0.655000	0.94253	AGC	-	NULL		0.433	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	protein_coding	OTTHUMT00000401575.1	G	NM_153207	-		19615524	1	no_errors	ENST00000398864	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19615524	G	T	19615524	3	4	170	1	0	0	0	0	1	0	0	0	350	971	34	3	758	3	AEBP2	12	19615524	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		19615524	114236371	38	11994											
HOXC5	3222	genome.wustl.edu	37	chr12	54426956	54426956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagcagagccccaatatccCtgcctataacatgcaaactt	5	13	0	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr12:54426956C>A	ENST00000312492.2	+	1	320	c.50C>A	c.(49-51)cCt>cAt	p.P17H	HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	17					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCCAATATCCCTGCCTATAAC	0.488											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000172789						69	70	70					12																	54426956		2203	4300	6503	HOXC5	SO:0001583	missense	0			-	HGNC		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"Homeoboxes / ANTP class : HOXL subclass"	5127	protein-coding gene	gene with protein product		142973	"homeo box C5"	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.50C>A	12.37:g.54426956C>A	ENSP00000309336:p.Pro17His	Somatic	0	49	0	1000	0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	33	42.11		Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.P17H	ENST00000312492.2	37	c.50	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673614	0.47781	.	.	ENSG00000172789	ENST00000312492	D	0.91686	-2.89	5.27	5.27	0.74061	.	0.000000	0.48286	D	0.000184	D	0.94301	0.8169	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	D	0.94659	0.7846	10	0.87932	D	0	.	17.8382	0.88707	0.0:1.0:0.0:0.0	.	17	Q00444	HXC5_HUMAN	H	17	ENSP00000309336:P17H	ENSP00000309336:P17H	P	+	2	0	HOXC5	52713223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.410000	0.59774	2.735000	0.93741	0.655000	0.94253	CCT	-	NULL		0.488	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	protein_coding	OTTHUMT00000358947.1	C		-		54426956	1	no_errors	ENST00000312492	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54426956	C	A	54426956	3	1	170	1	0	0	0	0	1	0	0	0	7316	681	24	3	52	3	HOXC5	12	54426956	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	34811432	54426956	79424939	39	11995											
WDFY2	115825	genome.wustl.edu	37	chr13	52332390	52332390	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcatgtgcatttcgatgCaaccagaggatggttactga	12	7	0	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr13:52332390C>G	ENST00000298125.5	+	11	1307	c.1127C>G	c.(1126-1128)gCa>gGa	p.A376G		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	376							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATTTCGATGCAACCAGAGGA	0.423																																																	0								ENSG00000139668						165	138	147					13																	52332390		2203	4300	6503	WDFY2	SO:0001583	missense	0			-	HGNC	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.1127C>G	13.37:g.52332390C>G	ENSP00000298125:p.Ala376Gly	Somatic	0	66	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67	B1AL86|Q96CS1	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A376G	ENST00000298125.5	37	c.1127	CCDS9429.1	13	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196828	0.38806	.	.	ENSG00000139668	ENST00000298125	T	0.59906	0.23	5.67	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.151942	0.64402	D	0.000015	T	0.44561	0.1299	N	0.19112	0.55	0.51767	D	0.999938	B	0.33000	0.393	B	0.31946	0.138	T	0.47071	-0.9145	10	0.59425	D	0.04	-21.848	15.2368	0.73438	0.1413:0.8587:0.0:0.0	.	376	Q96P53	WDFY2_HUMAN	G	376	ENSP00000298125:A376G	ENSP00000298125:A376G	A	+	2	0	WDFY2	51230391	1.000000	0.71417	0.984000	0.44739	0.970000	0.65996	4.668000	0.61568	1.399000	0.46721	-0.152000	0.13540	GCA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.423	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	protein_coding	OTTHUMT00000045985.3	C	NM_052950	-		52332390	1	no_errors	ENST00000298125	ensembl	human	known	74_37	missense	SNP	0.993	G	G	52332390	C	G	52332390	3	3	170	1	0	0	0	0	1	0	0	0	17276	710	25	4	1169	4	WDFY2	13	52332390	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09		52332390	62837488	40	11996											
NPAS3	64067	genome.wustl.edu	37	chr14	33525132	33525132	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataactgcccagcatcctctGcccaaccaatcagaatgtag	6	14	2	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr14:33525132G>T	ENST00000356141.4	+	2	72	c.72G>T	c.(70-72)ctG>ctT	p.L24L	NPAS3_ENST00000548645.1_Intron|NPAS3_ENST00000551492.1_Silent_p.L31L|NPAS3_ENST00000341321.4_Silent_p.L24L|NPAS3_ENST00000357798.5_Intron|NPAS3_ENST00000346562.2_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	24					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCATCCTCTGCCCAACCAAT	0.403																																																	0								ENSG00000151322						133	112	118					14																	33525132		692	1591	2283	NPAS3	SO:0001819	synonymous_variant	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.72G>T	14.37:g.33525132G>T		Somatic	0	72	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP							pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.L24	ENST00000356141.4	37	c.72	CCDS53891.1	14																																																																																			-	NULL		0.403	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	G		-		33525132	1	no_errors	ENST00000356141	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33525132	G	T	33525132	2	4	170	1	0	0	0	0	0	0	0	1	10566	1306	46	3		3	NPAS3	14	33525132	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		33525132	73824408	41	11997											
C14orf39	317761	genome.wustl.edu	37	chr14	60950421	60950421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactcactttctacagttgTctttaatctcctcactatgt	3	11	5	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr14:60950421T>C	ENST00000321731.3	-	4	380	c.221A>G	c.(220-222)gAc>gGc	p.D74G		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	74					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCTACAGTTGTCTTTAATCTC	0.294																																																	0								ENSG00000179008						136	121	126					14																	60950421		2199	4297	6496	C14orf39	SO:0001583	missense	0			-	HGNC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.221A>G	14.37:g.60950421T>C	ENSP00000324920:p.Asp74Gly	Somatic	0	62	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	6	81.25	Q08AQ4	Missense_Mutation	SNP							NULL	p.D74G	ENST00000321731.3	37	c.221	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367937	0.24771	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.54071	1.63;0.59	5.28	4.13	0.48395	.	0.274136	0.31020	N	0.008415	T	0.41236	0.1150	L	0.40543	1.245	0.34605	D	0.716935	B	0.10296	0.003	B	0.09377	0.004	T	0.47749	-0.9093	10	0.48119	T	0.1	-3.5976	8.2621	0.31790	0.0:0.0909:0.0:0.9091	.	74	Q8N1H7	S6OS1_HUMAN	G	74;45;74	ENSP00000324920:D74G;ENSP00000451665:D45G	ENSP00000324920:D74G	D	-	2	0	C14orf39	60020174	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.329000	0.43876	0.932000	0.37266	-0.274000	0.10170	GAC	-	NULL		0.294	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	protein_coding	OTTHUMT00000276948.1	T	NM_174978	-		60950421	-1	no_errors	ENST00000321731	ensembl	human	known	74_37	missense	SNP	0.996	C	C	60950421	T	C	60950421	3	2	170	1	0	0	0	0	1	0	0	0	1774	1667	58	5	1602	5	C14orf39	14	60950421	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09	27425289	60950421	46399119	42	11998											
KIAA0317	9870	genome.wustl.edu	37	chr14	75131588	75131588	+	Frame_Shift_Del	DEL	A	A	-													caactactgcatgggctttgAagtcagacacactgatgtct							TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr14:75131588delA	ENST00000356357.4	-	18	2659	c.2144delT	c.(2143-2145)ttcfs	p.F715fs	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	715	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATGGGCTTTGAAGTCAGACAC	0.428																																																	0								ENSG00000119682						96	94	95					14																	75131588		1984	4161	6145	AREL1	SO:0001589	frameshift_variant	0				HGNC	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2144delT	14.37:g.75131588delA	ENSP00000348714:p.Phe715fs	Somatic	0	49	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B4E2C7|Q7LDY1|Q8IYY9	Frame_Shift_Del	DEL							pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.F715fs	ENST00000356357.4	37	c.2144	CCDS41971.1	14																																																																																			-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.428	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AREL1	protein_coding	OTTHUMT00000335517.2	A	NM_014821			75131588	-1	no_errors	ENST00000356357	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	75131588	A	-	75131588	7	5	170	1	0	1	0	1	0	0	0	0	8169	246	9	0	339	0	KIAA0317	14	75131588	Frame_Shift_Del	DEL	A	TCGA-K1-A42X-01A-11D-A24N-09	14181167	75131588	32217952	43	11999											
TXNDC11	51061	genome.wustl.edu	37	chr16	11785500	11785500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcgatgaagcctgacaCacccctgcttatggtcctgc	10	13	0	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr16:11785500C>T	ENST00000356957.3	-	9	1734	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	TXNDC11_ENST00000283033.5_Missense_Mutation_p.V516M|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	543					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AAGCCTGACACACCCCTGCTT	0.463																																																	0								ENSG00000153066						123	113	116					16																	11785500		2197	4300	6497	TXNDC11	SO:0001583	missense	0			-	HGNC	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1627G>A	16.37:g.11785500C>T	ENSP00000349439:p.Val543Met	Somatic	0	44	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.V543M	ENST00000356957.3	37	c.1627		16	.	.	.	.	.	.	.	.	.	.	C	1.633	-0.518595	0.04171	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.23348	1.91;1.91	5.81	-1.74	0.08056	.	1.812070	0.02345	N	0.075268	T	0.13713	0.0332	N	0.16478	0.41	0.09310	N	1	B;B	0.18610	0.013;0.029	B;B	0.13407	0.006;0.009	T	0.14364	-1.0475	10	0.31617	T	0.26	-12.5369	1.0782	0.01637	0.4178:0.2326:0.0995:0.25	.	543;516	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	M	543;516	ENSP00000349439:V543M;ENSP00000283033:V516M	ENSP00000283033:V516M	V	-	1	0	TXNDC11	11693001	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.219000	0.09228	-0.125000	0.11703	-0.136000	0.14681	GTG	-	NULL		0.463	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	protein_coding	OTTHUMT00000437057.1	C	NM_015914	-		11785500	-1	no_errors	ENST00000356957	ensembl	human	known	74_37	missense	SNP	0.000	T	T	11785500	C	T	11785500	3	4	170	1	0	0	0	0	1	0	0	0	16799	478	17	2	1350	2	TXNDC11	16	11785500	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09		11785500	78569253	44	12000											
KIAA0513	9764	genome.wustl.edu	37	chr16	85100984	85100984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacttcatgcgtggctacGtggagaagatcttctctgga	14	8	3	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr16:85100984G>T	ENST00000566428.1	+	2	938	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	KIAA0513_ENST00000538274.1_Missense_Mutation_p.V103L|KIAA0513_ENST00000567328.1_Missense_Mutation_p.V103L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.V103L			O60268	K0513_HUMAN	KIAA0513	103						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GCGTGGCTACGTGGAGAAGAT	0.622																																																	0								ENSG00000135709						57	44	48					16																	85100984		2198	4297	6495	KIAA0513	SO:0001583	missense	0			-	HGNC	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.307G>T	16.37:g.85100984G>T	ENSP00000457408:p.Val103Leu	Somatic	0	69	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP							pfam_SBF2	p.V103L	ENST00000566428.1	37	c.307	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726563	0.69074	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.36157	1.27;1.27	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.75264	2.295	0.58432	D	0.999992	B;B	0.31077	0.174;0.307	B;B	0.31337	0.128;0.06	T	0.49818	-0.8899	10	0.62326	D	0.03	-15.3159	16.5569	0.84487	0.0:0.0:1.0:0.0	.	103;103	B4DSS5;O60268	.;K0513_HUMAN	L	103	ENSP00000446439:V103L;ENSP00000258180:V103L	ENSP00000258180:V103L	V	+	1	0	KIAA0513	83658485	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.720000	0.91442	2.304000	0.77564	0.655000	0.94253	GTG	-	NULL		0.622	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	protein_coding	OTTHUMT00000432736.1	G	NM_014732	-		85100984	1	no_errors	ENST00000258180	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85100984	G	T	85100984	3	4	170	1	0	0	0	0	1	0	0	0	8183	1145	40	3	309	3	KIAA0513	16	85100984	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	73315484	85100984	5253769	45	12001											
MAP2K4	6416	genome.wustl.edu	37	chr17	12032516	12032516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtgtatttgatcaactaAcacaagtcgtgaaaggagat	9	5	1	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr17:12032516A>G	ENST00000353533.5	+	9	1015	c.952A>G	c.(952-954)Aca>Gca	p.T318A	MAP2K4_ENST00000415385.3_Missense_Mutation_p.T329A	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|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)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGATCAACTAACACAAGTCGT	0.433			"D, Mis, N"		"pancreatic, breast, colorectal"																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)						ENSG00000065559						93	85	88					17																	12032516		2203	4298	6501	MAP2K4	SO:0001583	missense	0			-	HGNC	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.952A>G	17.37:g.12032516A>G	ENSP00000262445:p.Thr318Ala	Somatic	0	46	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	24	44.19	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T329A	ENST00000353533.5	37	c.985	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302183	0.60195	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.64803	-0.12;-0.12	5.1	5.1	0.69264	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	0.42517	0.1206	N	0.10733	0.035	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.30909	-0.9962	10	0.35671	T	0.21	.	14.2917	0.66284	1.0:0.0:0.0:0.0	.	190;329;318	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	A	318;329;295;190	ENSP00000262445:T318A;ENSP00000410402:T329A	ENSP00000262445:T318A	T	+	1	0	MAP2K4	11973241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.073000	0.93992	2.263000	0.75096	0.533000	0.62120	ACA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.433	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	protein_coding	OTTHUMT00000441226.1	A		-		12032516	1	no_errors	ENST00000415385	ensembl	human	known	74_37	missense	SNP	1.000	G	G	12032516	A	G	12032516	3	3	170	1	0	0	0	0	1	0	0	0	9241	43	2	5	986	5	MAP2K4	17	12032516	Missense_Mutation	SNP	A	TCGA-K1-A42X-01A-11D-A24N-09		12032516	69162694	46	12002											
ARL4D	379	genome.wustl.edu	37	chr17	41477526	41477526	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaccagcccggggcActgagcgctgctgaggtgga	17	11	0	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr17:41477526A>G	ENST00000320033.4	+	2	633	c.426A>G	c.(424-426)gcA>gcG	p.A142A		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	142					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		AGCCCGGGGCACTGAGCGCTG	0.657																																																	0								ENSG00000175906						20	21	21					17																	41477526		2201	4299	6500	ARL4D	SO:0001819	synonymous_variant	0			-	HGNC	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.426A>G	17.37:g.41477526A>G		Somatic	0	17	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B2RC59|D3DX43	Silent	SNP							pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A142	ENST00000320033.4	37	c.426	CCDS11463.1	17																																																																																			-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.657	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4D	protein_coding	OTTHUMT00000453481.2	A	NM_001661	-		41477526	1	no_errors	ENST00000320033	ensembl	human	known	74_37	silent	SNP	0.207	G	G	41477526	A	G	41477526	2	3	170	1	0	0	0	0	0	0	0	1	938	146	6	5		5	ARL4D	17	41477526	Silent	SNP	A	TCGA-K1-A42X-01A-11D-A24N-09	29445010	41477526	39717684	47	12003											
KIAA1267	284058	genome.wustl.edu	37	chr17	44116420	44116420	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcagatgaatggtctcGcaatctcattttgctgtggt	9	9	4	2			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr17:44116420G>A	ENST00000262419.6	-	9	2835	c.2365C>T	c.(2365-2367)Cga>Tga	p.R789*	KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R789*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R789*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R789*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	789					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)											GAATGGTCTCGCAATCTCATT	0.587																																																	0								ENSG00000120071						237	197	211					17																	44116420		2203	4300	6503	KANSL1	SO:0001587	stop_gained	0			-	HGNC	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.2365C>T	17.37:g.44116420G>A	ENSP00000262419:p.Arg789*	Somatic	0	73	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	35	47.76	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP							NULL	p.R789*	ENST00000262419.6	37	c.2365	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	41	9.054168	0.99050	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2476	17.6123	0.88058	0.0:0.0:1.0:0.0	.	.	.	.	X	789	.	ENSP00000262419:R789X	R	-	1	2	KIAA1267	41472267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.260000	0.51523	2.941000	0.99782	0.655000	0.94253	CGA	-	NULL		0.587	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	protein_coding	OTTHUMT00000440274.1	G	NM_015443	-		44116420	-1	no_errors	ENST00000262419	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	44116420	G	A	44116420	4	1	170	1	0	0	0	0	0	1	0	0	8221	1095	38	1	980	1	KIAA1267	17	44116420	Nonsense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	2638894	44116420	37078790	48	12004											
SERPINB10	5273	genome.wustl.edu	37	chr18	61587038	61587038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaatatttagaagacaTgaaaacatattttggtgcag	8	4	1	4			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr18:61587038T>A	ENST00000238508.3	+	5	448	c.389T>A	c.(388-390)aTg>aAg	p.M130K		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	130					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTAGAAGACATGAAAACATAT	0.333																																																	0								ENSG00000242550						68	82	77					18																	61587038		2203	4299	6502	SERPINB10	SO:0001583	missense	0			-	HGNC	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.389T>A	18.37:g.61587038T>A	ENSP00000238508:p.Met130Lys	Somatic	0	31	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	Q4VAX4|Q4VAX7	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M130K	ENST00000238508.3	37	c.389	CCDS11990.1	18	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598421	0.46318	.	.	ENSG00000242550	ENST00000238508	D	0.84516	-1.86	5.33	5.33	0.75918	Serpin domain (3);	0.521548	0.22335	N	0.061417	D	0.86703	0.5996	M	0.86268	2.805	0.27479	N	0.95262	B	0.30937	0.301	B	0.33254	0.16	T	0.83336	-0.0010	10	0.87932	D	0	.	11.6961	0.51544	0.0:0.0:0.0:1.0	.	130	P48595	SPB10_HUMAN	K	130	ENSP00000238508:M130K	ENSP00000238508:M130K	M	+	2	0	SERPINB10	59738018	0.189000	0.23263	0.966000	0.40874	0.812000	0.45895	1.166000	0.31834	2.023000	0.59567	0.533000	0.62120	ATG	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.333	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	protein_coding	OTTHUMT00000134012.3	T	NM_005024	-		61587038	1	no_errors	ENST00000238508	ensembl	human	known	74_37	missense	SNP	0.999	A	A	61587038	T	A	61587038	3	1	170	1	0	0	0	0	1	0	0	0	14105	1464	51	5	403	5	SERPINB10	18	61587038	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09		61587038	16490210	49	12005											
COL5A3	50509	genome.wustl.edu	37	chr19	10092765	10092765	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccctttctctcctatgggTcccaggggaccgggaaatcc	10	14	1	0	rs138236471	byFrequency	TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:10092765T>A	ENST00000264828.3	-	32	2521	c.2436A>T	c.(2434-2436)ggA>ggT	p.G812G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	812	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)			CTCCTATGGGTCCCAGGGGAC	0.532																																																	0								ENSG00000080573	T		0,4406		0,0,2203	127	112	117		2436	-2.8	0	19	dbSNP_134	117	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	COL5A3	NM_015719.3		0,6,6497	AA,AT,TT		0.0698,0.0,0.0461		812/1746	10092765	6,13000	2203	4300	6503	COL5A3	SO:0001819	synonymous_variant	0			-	HGNC	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.2436A>T	19.37:g.10092765T>A		Somatic	0	46	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	Q9NZQ6	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G812	ENST00000264828.3	37	c.2436	CCDS12222.1	19																																																																																			-	NULL		0.532	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	T	NM_015719	rs138236471		10092765	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	SNP	0.013	A	A	10092765	T	A	10092765	2	1	170	1	0	0	0	0	0	0	0	1	3700	1654	58	5		5	COL5A3	19	10092765	Silent	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09		10092765	49036218	50	12006											
ECSIT	51295	genome.wustl.edu	37	chr19	11617100	11617100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagaggatgtctggagctCccgggtggacccggcgaggc	18	11	1	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:11617100C>T	ENST00000270517.7	-	8	1330	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	ECSIT_ENST00000591104.1_3'UTR|ZNF653_ENST00000293771.5_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000417981.2_Missense_Mutation_p.E185K|ECSIT_ENST00000591352.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	399					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTCTGGAGCTCCCGGGTGGAC	0.667																																																	0								ENSG00000130159						25	28	27					19																	11617100		2202	4295	6497	ECSIT	SO:0001583	missense	0			-	HGNC	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1195G>A	19.37:g.11617100C>T	ENSP00000270517:p.Glu399Lys	Somatic	0	89	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	112	12.50	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP							pfam_ECSIT	p.E399K	ENST00000270517.7	37	c.1195	CCDS12262.1	19	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762635	0.69763	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.37058	1.26;1.22	5.4	5.4	0.78164	.	0.221378	0.44688	D	0.000436	T	0.57917	0.2086	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.64144	0.91;0.922	T	0.61023	-0.7146	10	0.62326	D	0.03	-34.5689	14.6711	0.68945	0.0:1.0:0.0:0.0	.	185;399	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	K	399;185	ENSP00000270517:E399K;ENSP00000412712:E185K	ENSP00000270517:E399K	E	-	1	0	ECSIT	11478100	0.996000	0.38824	1.000000	0.80357	0.069000	0.16628	3.386000	0.52492	2.543000	0.85770	0.585000	0.79938	GAG	-	NULL		0.667	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	protein_coding	OTTHUMT00000442603.2	C	NM_016581	-		11617100	-1	no_errors	ENST00000270517	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11617100	C	T	11617100	3	4	170	1	0	0	0	0	1	0	0	0	4902	864	30	2	104	2	ECSIT	19	11617100	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	1524335	11617100	47511883	51	12007											
ECSIT	51295	genome.wustl.edu	37	chr19	11623977	11623977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggggcactgggaaggggTtgacgttcatgaatcgaggg	18	8	1	2	rs202141211		TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:11623977T>C	ENST00000270517.7	-	4	767	c.632A>G	c.(631-633)aAc>aGc	p.N211S	ECSIT_ENST00000591104.1_Missense_Mutation_p.N211S|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.N211S|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591352.1_Intron|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000592312.1_Missense_Mutation_p.N95S	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	211					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGGGAAGGGGTTGACGTTCAT	0.592																																																	0								ENSG00000130159						97	75	83					19																	11623977		2203	4300	6503	ECSIT	SO:0001583	missense	0			-	HGNC	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.632A>G	19.37:g.11623977T>C	ENSP00000270517:p.Asn211Ser	Somatic	0	29	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	66	11.84	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP							pfam_ECSIT	p.N211S	ENST00000270517.7	37	c.632	CCDS12262.1	19	.	.	.	.	.	.	.	.	.	.	t	19.51	3.841023	0.71488	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.78003	-1.14;-1.14	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	L	0.45228	1.405	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.77341	-0.2624	10	0.13853	T	0.58	-38.722	13.8989	0.63790	0.0:0.0:0.0:1.0	.	211;211	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	S	211	ENSP00000270517:N211S;ENSP00000252440:N211S	ENSP00000252440:N211S	N	-	2	0	ECSIT	11484977	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.168000	0.77570	1.986000	0.57962	0.520000	0.50463	AAC	-	pfam_ECSIT		0.592	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	protein_coding	OTTHUMT00000442603.2	T	NM_016581	rs202141211		11623977	-1	no_errors	ENST00000270517	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11623977	T	C	11623977	3	2	170	1	0	0	0	0	1	0	0	0	4902	1725	60	5	683	5	ECSIT	19	11623977	Missense_Mutation	SNP	T	TCGA-K1-A42X-01A-11D-A24N-09	6877	11623977	47505006	52	12008											
SPTBN4	57731	genome.wustl.edu	37	chr19	41038564	41038564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccatgagaagatgctgatGgcgcgggatggcacgcggga	17	8	0	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:41038564G>T	ENST00000352632.3	+	19	4067	c.3981G>T	c.(3979-3981)atG>atT	p.M1327I	SPTBN4_ENST00000392023.1_Missense_Mutation_p.M3I|SPTBN4_ENST00000392025.1_Missense_Mutation_p.M70I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M1327I|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M1327I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.M1327I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1327					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGCTGATGGCGCGGGATG	0.617																																																	0								ENSG00000160460						71	62	65					19																	41038564		2203	4300	6503	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3981G>T	19.37:g.41038564G>T	ENSP00000263373:p.Met1327Ile	Somatic	0	48	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.M1327I	ENST00000352632.3	37	c.3981	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317865	0.60524	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.58797	0.9;0.9;0.9;0.31	4.86	4.86	0.63082	.	0.134395	0.46145	D	0.000311	T	0.60025	0.2237	N	0.16233	0.39	0.44380	D	0.997283	B;P;P;B;D;D	0.55385	0.057;0.949;0.951;0.111;0.969;0.971	B;P;P;B;D;P	0.70227	0.014;0.465;0.755;0.07;0.968;0.855	T	0.55604	-0.8115	10	0.19147	T	0.46	.	16.9138	0.86146	0.0:0.0:1.0:0.0	.	1327;70;70;3;1327;1327	E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;.;SPTN4_HUMAN;.	I	1327;1327;1327;70;3	ENSP00000263373:M1327I;ENSP00000340345:M1327I;ENSP00000375879:M70I;ENSP00000375877:M3I	ENSP00000340345:M1327I	M	+	3	0	SPTBN4	45730404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.138000	0.50570	2.499000	0.84300	0.561000	0.74099	ATG	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.617	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41038564	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41038564	G	T	41038564	3	4	170	1	0	0	0	0	1	0	0	0	15128	1348	47	3	4051	3	SPTBN4	19	41038564	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	29414587	41038564	18090419	53	12009											
SFRS16	11129	genome.wustl.edu	37	chr19	45561081	45561081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaggtagagaaggcggcaGaaaagccagaggaggaggag	18	6	0	3			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:45561081G>A	ENST00000221455.3	+	7	636	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	CLASRP_ENST00000391953.4_Missense_Mutation_p.E118K|CLASRP_ENST00000544944.2_Missense_Mutation_p.E180K	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	180					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAAGGCGGCAGAAAAGCCAGA	0.612																																																	0								ENSG00000104859						169	124	139					19																	45561081		2203	4300	6503	CLASRP	SO:0001583	missense	0			-	HGNC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.538G>A	19.37:g.45561081G>A	ENSP00000221455:p.Glu180Lys	Somatic	0	35	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	6	71.43	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP							pfam_SWAP_N_domain	p.E180K	ENST00000221455.3	37	c.538	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804921	0.31961	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.46819	1.45;1.45;0.86;1.44	4.95	4.95	0.65309	.	0.000000	0.36591	U	0.002505	T	0.32704	0.0838	N	0.16478	0.41	0.45930	D	0.998767	B;B;B	0.20988	0.05;0.014;0.021	B;B;B	0.23419	0.046;0.008;0.005	T	0.09885	-1.0654	10	0.16896	T	0.51	-15.7021	15.7382	0.77863	0.0:0.0:1.0:0.0	.	118;180;180	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	K	180;180;118;180	ENSP00000221455:E180K;ENSP00000375814:E180K;ENSP00000375815:E118K;ENSP00000438702:E180K	ENSP00000221455:E180K	E	+	1	0	CLASRP	50252921	1.000000	0.71417	0.949000	0.38748	0.353000	0.29299	6.980000	0.76160	2.580000	0.87095	0.557000	0.71058	GAA	-	NULL		0.612	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	protein_coding	OTTHUMT00000316749.1	G	NM_007056	-		45561081	1	no_errors	ENST00000221455	ensembl	human	known	74_37	missense	SNP	0.983	A	A	45561081	G	A	45561081	3	1	170	1	0	0	0	0	1	0	0	0	14180	943	33	2	560	2	SFRS16	19	45561081	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	4522517	45561081	13567902	54	12010											
POLD1	5424	genome.wustl.edu	37	chr19	50909545	50909545	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacaccaaggttgtcaGcatggtgggccgcgtgcaga	17	10	1	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:50909545G>C	ENST00000440232.2	+	11	1402	c.1349G>C	c.(1348-1350)aGc>aCc	p.S450T	POLD1_ENST00000599857.1_Missense_Mutation_p.S450T|POLD1_ENST00000595904.1_Missense_Mutation_p.S450T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	450					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AAGGTTGTCAGCATGGTGGGC	0.647								DNA polymerases (catalytic subunits)																																									0								ENSG00000062822						57	58	57					19																	50909545		2203	4300	6503	POLD1	SO:0001583	missense	0			-	HGNC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1349G>C	19.37:g.50909545G>C	ENSP00000406046:p.Ser450Thr	Somatic	0	87	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q8NER3|Q96H98	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.S450T	ENST00000440232.2	37	c.1349	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207979	0.39003	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.09350	2.99	4.44	4.44	0.53790	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.051041	0.85682	D	0.000000	T	0.03608	0.0103	N	0.01464	-0.85	0.38402	D	0.945682	B;B	0.12013	0.005;0.002	B;B	0.17098	0.017;0.01	T	0.40683	-0.9550	10	0.31617	T	0.26	-50.4231	6.8783	0.24158	0.192:0.0:0.808:0.0	.	450;450	E7EVW0;P28340	.;DPOD1_HUMAN	T	450;451	ENSP00000406046:S450T	ENSP00000366129:S451T	S	+	2	0	POLD1	55601357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.211000	0.58507	2.482000	0.83794	0.655000	0.94253	AGC	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.647	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	protein_coding	OTTHUMT00000464732.1	G		-		50909545	1	no_errors	ENST00000440232	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50909545	G	C	50909545	3	2	170	1	0	0	0	0	1	0	0	0	12192	971	34	4	1387	4	POLD1	19	50909545	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	5348464	50909545	8219438	55	12011											
CD33	945	genome.wustl.edu	37	chr19	51729106	51729106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctggcactctagaacccGgccactccaaaaacctgacc	6	18	1	2	rs201074739|rs201342074	byFrequency	TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:51729106G>T	ENST00000262262.4	+	3	487	c.466G>T	c.(466-468)Ggc>Tgc	p.G156C	CD33_ENST00000421133.2_Missense_Mutation_p.G29C|CD33_ENST00000436584.2_Missense_Mutation_p.G29C|CD33_ENST00000391796.3_Missense_Mutation_p.G156C	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	156	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G156C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCTAGAACCCGGCCACTCCAA	0.607																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000105383						80	84	82					19																	51729106		2203	4297	6500	CD33	SO:0001583	missense	0			-	HGNC	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.466G>T	19.37:g.51729106G>T	ENSP00000262262:p.Gly156Cys	Somatic	0	18	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	3	85.71	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G156C	ENST00000262262.4	37	c.466	CCDS33084.1	19	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250319	0.39797	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	3.08	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.588614	0.13010	U	0.420977	T	0.40815	0.1132	M	0.94021	3.485	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.18808	-1.0325	10	0.87932	D	0	.	9.7514	0.40478	0.0:0.0:1.0:0.0	.	29;156;156	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	C	29;156;29;156	ENSP00000403331:G29C;ENSP00000262262:G156C;ENSP00000410126:G29C;ENSP00000375673:G156C	ENSP00000262262:G156C	G	+	1	0	CD33	56420918	0.384000	0.25164	0.002000	0.10522	0.001000	0.01503	3.953000	0.56699	1.731000	0.51592	0.462000	0.41574	GGC	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom		0.607	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	protein_coding	OTTHUMT00000464199.2	G	NM_001772	-		51729106	1	no_errors	ENST00000262262	ensembl	human	known	74_37	missense	SNP	0.004	T	T	51729106	G	T	51729106	3	4	170	1	0	0	0	0	1	0	0	0	3007	1116	39	3	476	3	CD33	19	51729106	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	819561	51729106	7399877	56	12012											
ZNF773	374928	genome.wustl.edu	37	chr19	58017753	58017753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggagccaaggctgaggCagctgctgagcagagtgctt	16	9	0	3	rs201340833|rs61731281|rs386811330	byFrequency	TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr19:58017753C>A	ENST00000282292.4	+	4	430	c.290C>A	c.(289-291)gCa>gAa	p.A97E	ZNF773_ENST00000598770.1_Missense_Mutation_p.A96E|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	97					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(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		AAGGCTGAGGCAGCTGCTGAG	0.488													A|||	859	0.171526	0.2716	0.1484	5008	,	,		22832	0.1002		0.2018	False		,,,				2504	0.0951																0								ENSG00000152439						84	87	86					19																	58017753		2203	4300	6503	ZNF773	SO:0001583	missense	0			-	HGNC	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.290C>A	19.37:g.58017753C>A	ENSP00000282292:p.Ala97Glu	Somatic	0	46	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q96DL8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A97E	ENST00000282292.4	37	c.290	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.856327	0.00558	.	.	ENSG00000152439	ENST00000282292	T	0.05649	3.41	1.25	1.25	0.21368	.	.	.	.	.	T	0.02929	0.0087	N	0.05280	-0.08	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46789	-0.9166	9	0.28530	T	0.3	.	5.476	0.16695	0.7127:0.2873:0.0:0.0	rs61731281	96;97	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	E	97	ENSP00000282292:A97E	ENSP00000282292:A97E	A	+	2	0	ZNF773	62709565	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.333000	0.19768	0.000000	0.14550	-0.824000	0.03097	GCA	-	NULL		0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	protein_coding	OTTHUMT00000466475.1	C	NM_198542	rs61731281		58017753	1	no_errors	ENST00000282292	ensembl	human	known	74_37	missense	SNP	0.008	A	A	58017753	C	A	58017753	3	1	170	1	0	0	0	0	1	0	0	0	18153	710	25	3	304	3	ZNF773	19	58017753	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	6288647	58017753	1111230	57	12013											
PLCB1	23236	genome.wustl.edu	37	chr20	8665641	8665641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaacggagtcgtttcaCctgagaaactggatttgaat	10	6	1	3	rs368967370		TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr20:8665641C>T	ENST00000338037.6	+	10	952	c.925C>T	c.(925-927)Cct>Tct	p.P309S	PLCB1_ENST00000378641.3_Missense_Mutation_p.P309S|PLCB1_ENST00000378637.2_Missense_Mutation_p.P309S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	309				P -> T (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGTCGTTTCACCTGAGAAACT	0.418																																																	0								ENSG00000182621	C	SER/PRO,SER/PRO	0,4406		0,0,2203	184	175	178		925,925	4.8	1	20		178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLCB1	NM_015192.2,NM_182734.1	74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	309/1217,309/1174	8665641	1,13005	2203	4300	6503	PLCB1	SO:0001583	missense	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.925C>T	20.37:g.8665641C>T	ENSP00000338185:p.Pro309Ser	Somatic	0	58	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P309S	ENST00000338037.6	37	c.925	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335268	0.24253	0.0	1.16E-4	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.21031	2.03;2.03;2.03	5.76	4.81	0.61882	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.099528	0.64402	D	0.000001	T	0.39384	0.1076	L	0.58669	1.825	0.58432	D	0.999999	P;D	0.89917	0.605;1.0	B;D	0.76575	0.387;0.988	T	0.25082	-1.0142	10	0.07482	T	0.82	.	17.1722	0.86833	0.0:0.8737:0.1263:0.0	.	309;309	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	S	309;309;309;229;229	ENSP00000367908:P309S;ENSP00000338185:P309S;ENSP00000367904:P309S	ENSP00000338185:P309S	P	+	1	0	PLCB1	8613641	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	5.959000	0.70339	1.555000	0.49500	-0.182000	0.12963	CCT	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	C		-		8665641	1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8665641	C	T	8665641	3	4	170	1	0	0	0	0	1	0	0	0	12029	507	18	2	963	2	PLCB1	20	8665641	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09		8665641	54359879	58	12014											
KRTAP19-5	337972	genome.wustl.edu	37	chr21	31874391	31874391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccaggcctccatagtaGttgccgtagtagttcatggt	11	10	1	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr21:31874391G>A	ENST00000334151.2	-	1	44	c.18C>T	c.(16-18)aaC>aaT	p.N6N		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	6						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCATAGTAGTTGCCGTAGT	0.552																																																	0								ENSG00000186977						126	102	110					21																	31874391		2203	4300	6503	KRTAP19-5	SO:0001819	synonymous_variant	0			-	HGNC	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.18C>T	21.37:g.31874391G>A		Somatic	0	126	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	46	50.54	A4IF22	Silent	SNP							pfam_KRTAP_type6/8/16/19/20	p.N6	ENST00000334151.2	37	c.18	CCDS13597.1	21																																																																																			-	pfam_KRTAP_type6/8/16/19/20		0.552	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-5	protein_coding	OTTHUMT00000128226.2	G		-		31874391	-1	no_errors	ENST00000334151	ensembl	human	known	74_37	silent	SNP	0.353	A	A	31874391	G	A	31874391	2	1	170	1	0	0	0	0	0	0	0	1	8534	1020	36	2		2	KRTAP19-5	21	31874391	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		31874391	16255504	59	12015											
COL18A1	80781	genome.wustl.edu	37	chr21	46909414	46909414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttagggggatcctggcgtGcctgggctgccgggggcgaa	19	10	0	0			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr21:46909414G>A	ENST00000359759.4	+	18	3204	c.3183G>A	c.(3181-3183)gtG>gtA	p.V1061V	COL18A1_ENST00000400337.2_Silent_p.V646V|COL18A1_ENST00000355480.5_Silent_p.V826V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1061	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ATCCTGGCGTGCCTGGGCTGC	0.687																																																	0								ENSG00000182871						16	20	18					21																	46909414		1958	4129	6087	COL18A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3183G>A	21.37:g.46909414G>A		Somatic	0	71	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	52	34.18	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.V1061	ENST00000359759.4	37	c.3183		21																																																																																			-	pfam_Collagen		0.687	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	G		-		46909414	1	no_errors	ENST00000359759	ensembl	human	known	74_37	silent	SNP	0.000	A	A	46909414	G	A	46909414	2	1	170	1	0	0	0	0	0	0	0	1	3677	1306	46	2		2	COL18A1	21	46909414	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	15035023	46909414	1220481	60	12016											
PCNT	5116	genome.wustl.edu	37	chr21	47864659	47864659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatccctgactgcttctcaaGatccagaacattccttgaca	6	13	1	4			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chr21:47864659G>A	ENST00000359568.5	+	46	9999	c.9892G>A	c.(9892-9894)Gat>Aat	p.D3298N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3298					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCTTCTCAAGATCCAGAACA	0.398																																																	0								ENSG00000160299						110	107	108					21																	47864659		2203	4300	6503	PCNT	SO:0001583	missense	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9892G>A	21.37:g.47864659G>A	ENSP00000352572:p.Asp3298Asn	Somatic	0	50	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O43152|Q7Z7C9	Missense_Mutation	SNP							pfam_PACT_domain	p.D3298N	ENST00000359568.5	37	c.9892	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	35	5.535159	0.96460	.	.	ENSG00000160299	ENST00000359568	T	0.04502	3.61	5.92	5.92	0.95590	.	0.000000	0.35067	N	0.003480	T	0.23171	0.0560	M	0.72894	2.215	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00017	-1.2377	10	0.87932	D	0	.	19.3095	0.94179	0.0:0.0:1.0:0.0	.	3101;3298	O95613-2;O95613	.;PCNT_HUMAN	N	3298	ENSP00000352572:D3298N	ENSP00000352572:D3298N	D	+	1	0	PCNT	46689087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.479000	0.90431	2.804000	0.96469	0.655000	0.94253	GAT	-	NULL		0.398	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	G	NM_006031	-		47864659	1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47864659	G	A	47864659	3	1	170	1	0	0	0	0	1	0	0	0	11592	942	33	2	10074	2	PCNT	21	47864659	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	955245	47864659	265236	61	12017											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29973451	29973451	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaccatcaagctcctgacGgtcattaaatggcatggacc	8	13	2	1	rs35305747	byFrequency	TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chrX:29973451G>T	ENST00000378993.1	+	11	2278	c.1605G>T	c.(1603-1605)acG>acT	p.T535T	IL1RAPL1_ENST00000302196.4_Silent_p.T535T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	535	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGCTCCTGACGGTCATTAAAT	0.418													G|||	2	0.000529801	0	0	3775	,	,		15694	0		0.002	False		,,,				2504	0																0								ENSG00000169306	G		2,3831		0,2,0,1629,571	59	55	56		1605	-0.9	1	X	dbSNP_126	56	10,6718		0,6,4,2422,1868	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,8,4,4051,2439	TT,TG,T,GG,G		0.1486,0.0522,0.1136		535/697	29973451	12,10549	2202	4300	6502	IL1RAPL1	SO:0001819	synonymous_variant	0			GMAF=0	HGNC	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1605G>T	X.37:g.29973451G>T		Somatic	0	41	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	A0AVG4|Q9UJ53	Silent	SNP							pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.T535	ENST00000378993.1	37	c.1605	CCDS14218.1	X																																																																																			-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.418	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	protein_coding	OTTHUMT00000056155.1	G	NM_014271	rs35305747		29973451	1	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	SNP	0.876	T	T	29973451	G	T	29973451	2	4	170	1	0	0	0	0	0	0	0	1	7663	1103	39	3		3	IL1RAPL1	23	29973451	Silent	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09		29973451	125297109	62	12018											
EFHC2	80258	genome.wustl.edu	37	chrX	44008133	44008133	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcataccaagccaaacatCttcacatctctagaaaaaaa	4	11	3	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chrX:44008133C>A	ENST00000420999.1	-	15	2241	c.2158G>T	c.(2158-2160)Gat>Tat	p.D720Y	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	720							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AGCCAAACATCTTCACATCTC	0.368																																																	0								ENSG00000183690						78	63	68					X																	44008133		1859	4078	5937	EFHC2	SO:0001583	missense	0			-	HGNC	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.2158G>T	X.37:g.44008133C>A	ENSP00000404232:p.Asp720Tyr	Somatic	0	65	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	27	53.45	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP							pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom	p.D720Y	ENST00000420999.1	37	c.2158	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.62|13.62	2.292683|2.292683	0.40594|0.40594	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000343571;ENST00000333807;ENST00000420999|ENST00000441230	T;T|.	0.68479|.	-0.31;-0.33|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.217475|.	0.36854|.	N|.	0.002378|.	T|T	0.70090|0.70090	0.3184|0.3184	L|L	0.57536|0.57536	1.79|1.79	0.47778|0.47778	D|D	0.999518|0.999518	D|.	0.89917|.	1.0|.	D|.	0.68192|.	0.956|.	T|T	0.68538|0.68538	-0.5382|-0.5382	10|5	0.59425|.	D|.	0.04|.	-15.7608|-15.7608	15.34|15.34	0.74287|0.74287	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	720|.	Q5JST6|.	EFHC2_HUMAN|.	Y|I	133;720;748|700	ENSP00000333823:D720Y;ENSP00000404232:D748Y|.	ENSP00000333823:D720Y|.	D|R	-|-	1|2	0|0	EFHC2|EFHC2	43893077|43893077	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.110000|0.110000	0.19582|0.19582	2.796000|2.796000	0.47869|0.47869	2.268000|2.268000	0.75426|0.75426	0.506000|0.506000	0.49869|0.49869	GAT|AGA	-	NULL		0.368	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	protein_coding	OTTHUMT00000056312.2	C	NM_025184	-		44008133	-1	no_errors	ENST00000420999	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44008133	C	A	44008133	3	1	170	1	0	0	0	0	1	0	0	0	4949	913	32	3	95	3	EFHC2	23	44008133	Missense_Mutation	SNP	C	TCGA-K1-A42X-01A-11D-A24N-09	14034682	44008133	111262427	63	12019											
NAP1L3	4675	genome.wustl.edu	37	chrX	92928275	92928275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccatgggcgacaggttccGagaccattttaaaatctgct	9	12	1	1			TCGA-K1-A42X-01A-11D-A24N-09	TCGA-K1-A42X-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	347468ce-6cf1-46ba-8d49-c9627f57b1b1	8bee70d0-af1d-40fb-9152-522822710a6e	g.chrX:92928275G>A	ENST00000373079.3	-	1	292	c.29C>T	c.(28-30)tCg>tTg	p.S10L	FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.S3L|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	10					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GACAGGTTCCGAGACCATTTT	0.522																																																	0								ENSG00000186310						52	48	50					X																	92928275		2203	4300	6503	NAP1L3	SO:0001583	missense	0			-	HGNC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.29C>T	X.37:g.92928275G>A	ENSP00000362171:p.Ser10Leu	Somatic	0	77	0		0.709517018956267				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	30	53.85	B2RCM0|O60788	Missense_Mutation	SNP							pfam_NAP_family	p.S10L	ENST00000373079.3	37	c.29	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	G	4.602	0.111917	0.08831	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.33438	1.41	3.65	-0.35	0.12606	.	1.573920	0.04398	N	0.363684	T	0.16041	0.0386	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17440	-1.0369	10	0.17832	T	0.49	.	3.6254	0.08111	0.4797:0.0:0.3389:0.1814	.	10	Q99457	NP1L3_HUMAN	L	10;3	ENSP00000362171:S10L	ENSP00000362171:S10L	S	-	2	0	NAP1L3	92814931	0.094000	0.21725	0.188000	0.23233	0.187000	0.23431	-0.361000	0.07612	-0.209000	0.10156	-0.395000	0.06472	TCG	-	NULL		0.522	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	protein_coding	OTTHUMT00000057449.1	G	NM_004538	-		92928275	-1	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	SNP	0.049	A	A	92928275	G	A	92928275	3	1	170	1	0	0	0	0	1	0	0	0	10160	1059	37	1	1495	1	NAP1L3	23	92928275	Missense_Mutation	SNP	G	TCGA-K1-A42X-01A-11D-A24N-09	48920142	92928275	62342285	64	12020											
LUZP1	7798	genome.wustl.edu	37	chr1	23420544	23420544	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcaattctcagcacccGctggcgcagcacttcaatct	7	16	4	0	rs536365038		TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr1:23420544G>T	ENST00000302291.4	-	4	1012	c.211C>A	c.(211-213)Cgg>Agg	p.R71R	LUZP1_ENST00000418342.1_Silent_p.R71R|LUZP1_ENST00000314174.5_Silent_p.R71R|LUZP1_ENST00000374623.3_Silent_p.R71R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	71					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTCAGCACCCGCTGGCGCAGC	0.507																																																	0								ENSG00000169641						142	150	147					1																	23420544		2203	4300	6503	LUZP1	SO:0001819	synonymous_variant	0			-	HGNC	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.211C>A	1.37:g.23420544G>T		Somatic	0	30	0		0.400331380533959	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP							NULL	p.R71	ENST00000302291.4	37	c.211	CCDS30628.1	1																																																																																			-	NULL		0.507	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	G	NM_033631	-		23420544	-1	no_errors	ENST00000302291	ensembl	human	known	74_37	silent	SNP	1.000	T	T	23420544	G	T	23420544	2	4	171	1	0	0	0	0	0	0	0	1	9088	1086	38	3		3	LUZP1	1	23420544	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		23420544	225830077	1	12021											
PTPRU	10076	genome.wustl.edu	37	chr1	29644393	29644393	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcctcatctccactgAtggggactccaacaactaca	6	16	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr1:29644393A>T	ENST00000345512.3	+	26	3806	c.3677A>T	c.(3676-3678)gAt>gTt	p.D1226V	PTPRU_ENST00000428026.2_Missense_Mutation_p.D1213V|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1222V|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1222V|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1222V|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1216V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1226	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCTCCACTGATGGGGACTCC	0.627																																																	0								ENSG00000060656						79	69	72					1																	29644393		2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3677A>T	1.37:g.29644393A>T	ENSP00000334941:p.Asp1226Val	Somatic	0	50	0		0.400331380533959	26	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	73	9.88	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D1226V	ENST00000345512.3	37	c.3677	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569925	0.86542	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.89	4.89	0.63831	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.060491	0.64402	D	0.000004	D	0.90435	0.7005	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.64830	0.993;0.993;0.993;0.994;0.994	P;P;P;P;P	0.58077	0.742;0.742;0.742;0.832;0.832	D	0.91872	0.5508	9	.	.	.	.	14.1517	0.65389	1.0:0.0:0.0:0.0	.	1213;1222;1216;1222;1226	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1226;1216;1222;1222;1213;1222	ENSP00000334941:D1226V;ENSP00000362884:D1216V;ENSP00000349333:D1222V;ENSP00000314987:D1222V;ENSP00000392332:D1213V;ENSP00000432906:D1222V	.	D	+	2	0	PTPRU	29516980	1.000000	0.71417	0.720000	0.30636	0.901000	0.52897	9.131000	0.94446	2.177000	0.69029	0.533000	0.62120	GAT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	A		-		29644393	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	0.972	T	T	29644393	A	T	29644393	3	4	171	1	0	0	0	0	1	0	0	0	12821	333	12	5	3801	5	PTPRU	1	29644393	Missense_Mutation	SNP	A	TCGA-K1-A6RT-01A-32D-A33E-09	6223849	29644393	219606228	2	12022											
FMO5	2330	genome.wustl.edu	37	chr1	146658796	146658796	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtatctatgtagtctccctGaatggtatggcgttggctct	12	8	3	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr1:146658796G>T	ENST00000254090.4	-	9	1673	c.1285C>A	c.(1285-1287)Cag>Aag	p.Q429K	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	429						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TAGTCTCCCTGAATGGTATGG	0.473																																																	0								ENSG00000131781						62	61	61					1																	146658796		2203	4300	6503	FMO5	SO:0001583	missense	0			-	HGNC	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1285C>A	1.37:g.146658796G>T	ENSP00000254090:p.Gln429Lys	Somatic	0	28	0		0.400331380533959	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP							pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.Q429K	ENST00000254090.4	37	c.1285	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	27.3	4.819483	0.90873	.	.	ENSG00000131781	ENST00000254090	T	0.53640	0.61	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.59912	1.85	0.80722	D	1	P	0.34815	0.47	P	0.46172	0.506	T	0.45338	-0.9268	10	0.46703	T	0.11	-16.9845	17.5569	0.87894	0.0:0.0:1.0:0.0	.	429	P49326	FMO5_HUMAN	K	429	ENSP00000254090:Q429K	ENSP00000254090:Q429K	Q	-	1	0	FMO5	145125420	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.487000	0.97945	2.735000	0.93741	0.655000	0.94253	CAG	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2		0.473	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	protein_coding	OTTHUMT00000040373.2	G	NM_001461	-		146658796	-1	no_errors	ENST00000254090	ensembl	human	known	74_37	missense	SNP	1.000	T	T	146658796	G	T	146658796	3	4	171	1	0	0	0	0	1	0	0	0	5960	1299	45	3	463	3	FMO5	1	146658796	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	117014403	146658796	102591825	3	12023											
VANGL2	57216	genome.wustl.edu	37	chr1	160394931	160394931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggagcgatacttggcGgctggacctaccatccagta	11	11	1	0	rs146767141		TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr1:160394931G>A	ENST00000368061.2	+	8	1803	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	443					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.A443A(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATACTTGGCGGCTGGACCTA	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		15617	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	endometrium(1)						ENSG00000162738	G		2,4404	4.2+/-10.8	0,2,2201	81	80	81		1329	-10.1	0.2	1	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	VANGL2	NM_020335.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		443/522	160394931	2,13004	2203	4300	6503	VANGL2	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1329G>A	1.37:g.160394931G>A		Somatic	0	56	0		0.400331380533959	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	D3DVE9|Q5T212	Silent	SNP							pfam_Strabismus,pirsf_Strabismus	p.A443	ENST00000368061.2	37	c.1329	CCDS30915.1	1																																																																																			-	pfam_Strabismus,pirsf_Strabismus		0.557	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	protein_coding	OTTHUMT00000080677.1	G	NM_020335	rs146767141		160394931	1	no_errors	ENST00000368061	ensembl	human	known	74_37	silent	SNP	0.077	A	A	160394931	G	A	160394931	2	1	171	1	0	0	0	0	0	0	0	1	17127	1103	39	1		1	VANGL2	1	160394931	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	13736135	160394931	88855690	4	12024											
ALDH9A1	223	genome.wustl.edu	37	chr1	165638239	165638239	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatatatctccaccacataaCactttagcaccctgccgaaa	3	14	1	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr1:165638239C>A	ENST00000354775.4	-	8	1435	c.1131G>T	c.(1129-1131)gtG>gtT	p.V377V	ALDH9A1_ENST00000538148.1_Silent_p.V283V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	353					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CACCACATAACACTTTAGCAC	0.333																																					Ovarian(179;1583 2014 18106 33801 42447)												0								ENSG00000143149						107	111	110					1																	165638239		2203	4299	6502	ALDH9A1	SO:0001819	synonymous_variant	0			-	HGNC	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1131G>T	1.37:g.165638239C>A		Somatic	0	42	0		0.400331380533959	421	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V377	ENST00000354775.4	37	c.1131	CCDS1250.2	1																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.333	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	protein_coding	OTTHUMT00000083899.1	C		-		165638239	-1	no_errors	ENST00000354775	ensembl	human	known	74_37	silent	SNP	0.795	A	A	165638239	C	A	165638239	2	1	171	1	0	0	0	0	0	0	0	1	506	465	17	3		3	ALDH9A1	1	165638239	Silent	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	5243308	165638239	83612382	5	12025											
ATAD2B	54454	genome.wustl.edu	37	chr2	24149446	24149446	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctcatccagagtgacGccggcgccaccgcttccccc	10	20	1	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr2:24149446G>T	ENST00000238789.5	-	1	538	c.195C>A	c.(193-195)ggC>ggA	p.G65G	UBXN2A_ENST00000404924.1_5'Flank	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	65						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAGTGACGCCGGCGCCAC	0.726																																																	0								ENSG00000119778						2	3	3					2																	24149446		1512	3525	5037	ATAD2B	SO:0001819	synonymous_variant	0			-	HGNC	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.195C>A	2.37:g.24149446G>T		Somatic	0	10	0		0.400331380533959	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	36.36	B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP							pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G65	ENST00000238789.5	37	c.195	CCDS46227.1	2																																																																																			-	NULL		0.726	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	protein_coding	OTTHUMT00000324333.1	G	NM_017552	-		24149446	-1	no_errors	ENST00000238789	ensembl	human	known	74_37	silent	SNP	0.895	T	T	24149446	G	T	24149446	2	4	171	1	0	0	0	0	0	0	0	1	1072	1074	38	3		3	ATAD2B	2	24149446	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		24149446	219049927	6	12026											
AGBL5	60509	genome.wustl.edu	37	chr2	27282286	27282286	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaggtaagccagtctgGgagcccctgcaacatgtgtt	13	10	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr2:27282286G>T	ENST00000360131.4	+	11	2248				AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.W701C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5						protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCAGTCTGGGAGCCCCTGC	0.577																																																	0								ENSG00000084693						54	64	61					2																	27282286		2203	4298	6501	AGBL5	SO:0001627	intron_variant	0			-	HGNC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2089+14G>T	2.37:g.27282286G>T		Somatic	0	73	0		0.400331380533959	28	17.14	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	102	12.07	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP							pfam_Peptidase_M14	p.W701C	ENST00000360131.4	37	c.2103	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213087	0.58452	.	.	ENSG00000084693	ENST00000323064	T	0.14144	2.53	5.76	4.87	0.63330	.	.	.	.	.	T	0.29028	0.0721	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.58873	0.847	T	0.00298	-1.1837	7	.	.	.	.	13.8511	0.63496	0.0749:0.0:0.9251:0.0	.	701	Q8NDL9-3	.	C	701	ENSP00000323681:W701C	.	W	+	3	0	AGBL5	27135790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.913000	0.48790	2.713000	0.92767	0.655000	0.94253	TGG	-	NULL		0.577	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	protein_coding	OTTHUMT00000309033.1	G	NM_021831	-		27282286	1	no_errors	ENST00000323064	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27282286	G	T	27282286	1	4	171	0	1	0	0	0	0	0	0	0	378	1241	43	3		3	AGBL5	2	27282286	Intron	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	3132840	27282286	215917087	7	12027											
THADA	63892	genome.wustl.edu	37	chr2	43458367	43458367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcagggcttgggggaCgccagccggactttgagagg	17	10	1	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr2:43458367C>T	ENST00000405006.4	-	38	5933	c.5582G>A	c.(5581-5583)cGt>cAt	p.R1861H	THADA_ENST00000415080.2_Missense_Mutation_p.R1542H|THADA_ENST00000405975.2_Missense_Mutation_p.R1861H|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1861										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCTTGGGGGACGCCAGCCGGA	0.527																																																	0								ENSG00000115970						38	40	40					2																	43458367		1949	4143	6092	THADA	SO:0001583	missense	0			-	HGNC	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5582G>A	2.37:g.43458367C>T	ENSP00000385995:p.Arg1861His	Somatic	0	56	0		0.400331380533959	117	18.06	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	69	10.26	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP							pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.R1861H	ENST00000405006.4	37	c.5582	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.636|6.636	0.485869|0.485869	0.12641|0.12641	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.11821|.	2.93;2.74;2.93|.	5.08|5.08	-6.53|-6.53	0.01866|0.01866	.|.	1.482320|.	0.03977|.	N|.	0.292682|.	T|T	0.16471|0.16471	0.0396|0.0396	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.013;0.001|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.36615|.	T|.	0.2|.	-37.2225|-37.2225	2.4389|2.4389	0.04490|0.04490	0.1029:0.2513:0.2044:0.4414|0.1029:0.2513:0.2044:0.4414	.|.	1788;1861|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	H|I	1861;1788;1542;1861|1101	ENSP00000386088:R1861H;ENSP00000416048:R1542H;ENSP00000385995:R1861H|.	ENSP00000349464:R1788H|.	R|V	-|-	2|1	0|0	THADA|THADA	43311871|43311871	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.943000|-1.943000	0.01539|0.01539	-0.955000|-0.955000	0.03636|0.03636	-0.150000|-0.150000	0.13652|0.13652	CGT|GTC	-	NULL		0.527	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	protein_coding	OTTHUMT00000326070.3	C	NM_022065	-		43458367	-1	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43458367	C	T	43458367	3	4	171	1	0	0	0	0	1	0	0	0	15847	536	19	1	283	1	THADA	2	43458367	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	16176081	43458367	199741006	8	12028											
NEB	4703	genome.wustl.edu	37	chr2	152512817	152512817	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acactgagcatgtcggcaggGgtgtggtagctggtctttgt	16	7	1	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr2:152512817G>T	ENST00000172853.10	-	49	6492	c.6345C>A	c.(6343-6345)acC>acA	p.T2115T	NEB_ENST00000397345.3_Silent_p.T2115T|NEB_ENST00000604864.1_Silent_p.T2115T|NEB_ENST00000427231.2_Silent_p.T2115T|NEB_ENST00000603639.1_Silent_p.T2115T|NEB_ENST00000409198.1_Silent_p.T2115T			P20929	NEBU_HUMAN	nebulin	2115					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)		TGTCGGCAGGGGTGTGGTAGC	0.478																																																	0								ENSG00000183091						261	262	262					2																	152512817		2103	4230	6333	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.6345C>A	2.37:g.152512817G>T		Somatic	0	30	0		0.400331380533959	492	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.11	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.T2115	ENST00000172853.10	37	c.6345		2																																																																																			-	smart_Nebulin_35r-motif		0.478	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152512817	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.951	T	T	152512817	G	T	152512817	2	4	171	1	0	0	0	0	0	0	0	1	10304	1219	43	3		3	NEB	2	152512817	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	109054450	152512817	90686556	9	12029											
TTN	7273	genome.wustl.edu	37	chr2	179539093	179539093	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgctaggtggttcttctggGatttcttcttctgaaatagg	11	6	5	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr2:179539093G>T	ENST00000591111.1	-	147	33758	c.33534C>A	c.(33532-33534)atC>atA	p.I11178I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I11552I|TTN_ENST00000342992.6_Silent_p.I10251I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11178	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)			GTTCTTCTGGGATTTCTTCTT	0.338																																																	0								ENSG00000155657						99	87	91					2																	179539093		1814	4080	5894	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.33534C>A	2.37:g.179539093G>T		Somatic	0	77	0		0.400331380533959	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I10251	ENST00000591111.1	37	c.30753		2																																																																																			-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179539093	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.999	T	T	179539093	G	T	179539093	2	4	171	1	0	0	0	0	0	0	0	1	16742	1164	41	3		3	TTN	2	179539093	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	27026276	179539093	63660280	10	12030											
FSIP2	401024	genome.wustl.edu	37	chr2	186657269	186657269	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caattaaatgtcctttctctCtcccactctaattttaatgg	3	11	3	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr2:186657269C>A	ENST00000424728.1	+	16	5406	c.5406C>A	c.(5404-5406)ctC>ctA	p.L1802L	FSIP2_ENST00000343098.5_Silent_p.L1891L|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1802										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCCTTTCTCTCTCCCACTCTA	0.328																																																	0								ENSG00000188738																																			FSIP2	SO:0001819	synonymous_variant	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5406C>A	2.37:g.186657269C>A		Somatic	0	60	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP							NULL	p.L1891	ENST00000424728.1	37	c.5673		2																																																																																			-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	C	NM_173651	-		186657269	1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	SNP	0.013	A	A	186657269	C	A	186657269	2	1	171	1	0	0	0	0	0	0	0	1	6077	900	32	3		3	FSIP2	2	186657269	Silent	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	7118176	186657269	56542104	11	12031											
ITPR1	3708	genome.wustl.edu	37	chr3	4836803	4836803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctttctggagcagcatttCgtttaacctggccgtcctga	10	11	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr3:4836803C>T	ENST00000443694.2	+	50	6818	c.6818C>T	c.(6817-6819)tCg>tTg	p.S2273L	ITPR1_ENST00000456211.2_Missense_Mutation_p.S2225L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2240L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2273L|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2273L|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2240L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					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)	AGCAGCATTTCGTTTAACCTG	0.527																																																	0								ENSG00000150995						126	124	125					3																	4836803		2056	4202	6258	ITPR1	SO:0001583	missense	0			-	HGNC	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.6818C>T	3.37:g.4836803C>T	ENSP00000401671:p.Ser2273Leu	Somatic	0	101	0		0.400331380533959	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	125	8.09	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S2273L	ENST00000443694.2	37	c.6818	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409777	0.42715	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.78;-2.78;-2.78;-2.79	5.42	4.55	0.56014	.	0.174700	0.52532	N	0.000074	D	0.85570	0.5727	L	0.35288	1.05	0.80722	D	1	B;P	0.37330	0.006;0.59	B;B	0.39185	0.002;0.293	T	0.82149	-0.0600	10	0.20519	T	0.43	.	13.9817	0.64308	0.0:0.9271:0.0:0.0729	.	2288;2240	Q14643;G5E9P1	ITPR1_HUMAN;.	L	2288;2273;2273;2240;734;2240;2225;2273	ENSP00000306253:S2273L;ENSP00000346595:S2273L;ENSP00000405934:S2240L;ENSP00000349597:S2240L;ENSP00000397885:S2225L;ENSP00000401671:S2273L	ENSP00000306253:S2273L	S	+	2	0	ITPR1	4811803	1.000000	0.71417	0.034000	0.17996	0.706000	0.40770	5.981000	0.70524	1.274000	0.44362	0.561000	0.74099	TCG	-	NULL		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	C	NM_002222	-		4836803	1	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4836803	C	T	4836803	3	4	171	1	0	0	0	0	1	0	0	0	7922	893	31	1	7065	1	ITPR1	3	4836803	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		4836803	193185627	12	12032											
SCAP	22937	genome.wustl.edu	37	chr3	47470002	47470002	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtccctgagaggggtaCctgtctctcagcacgtggtt	14	11	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr3:47470002C>T	ENST00000265565.5	-	4	823		c.e4+1		SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone						aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGAGGGGTACCTGTCTCTCA	0.552																																					Pancreas(149;978 1908 29304 37806 46700)												0								ENSG00000114650						156	147	150					3																	47470002		2203	4300	6503	SCAP	SO:0001630	splice_region_variant	0			-	HGNC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.410+1G>A	3.37:g.47470002C>T		Somatic	0	75	0		0.400331380533959	0	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	106	8.55	Q8N2E0|Q8WUA1	Splice_Site	SNP							-	e3+1	ENST00000265565.5	37	c.410+1	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199973	0.79015	.	.	ENSG00000114650	ENST00000339815;ENST00000265565	.	.	.	5.68	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2583	0.66067	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	SCAP	47445006	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.608000	0.82898	1.401000	0.46761	0.563000	0.77884	.	-	-		0.552	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	protein_coding	OTTHUMT00000246872.2	C	NM_012235	-	Intron	47470002	-1	no_errors	ENST00000265565	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	47470002	C	T	47470002	5	4	171	1	0	0	0	0	0	0	1	0	13885	521	18	2	3508	2	SCAP	3	47470002	Splice_Site	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	42633199	47470002	150552428	13	12033											
LRTM1	57408	genome.wustl.edu	37	chr3	54952751	54952751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcgttgtggttctcaGgaggcctcaggaccacaccg	12	16	2	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr3:54952751G>T	ENST00000273286.5	-	3	935	c.773C>A	c.(772-774)cCt>cAt	p.P258H	LRTM1_ENST00000493075.1_Missense_Mutation_p.P182H|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	258						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTGGTTCTCAGGAGGCCTCAG	0.627																																																	0								ENSG00000144771						67	56	60					3																	54952751		2203	4300	6503	LRTM1	SO:0001583	missense	0			-	HGNC	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.773C>A	3.37:g.54952751G>T	ENSP00000273286:p.Pro258His	Somatic	0	41	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8IUU2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P258H	ENST00000273286.5	37	c.773	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207711	0.06180	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.52057	0.68;1.0	4.19	1.29	0.21616	.	0.648102	0.13792	N	0.362414	T	0.35248	0.0925	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	10	0.33141	T	0.24	.	10.1176	0.42601	0.0:0.0:0.4727:0.5273	.	258	Q9HBL6	LRTM1_HUMAN	H	258;182	ENSP00000273286:P258H;ENSP00000419772:P182H	ENSP00000273286:P258H	P	-	2	0	LRTM1	54927791	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.191000	0.32138	0.259000	0.21709	-0.428000	0.05917	CCT	-	NULL		0.627	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	protein_coding	OTTHUMT00000351399.1	G	NM_020678	-		54952751	-1	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	SNP	0.001	T	T	54952751	G	T	54952751	3	4	171	1	0	0	0	0	1	0	0	0	9046	1000	35	3	268	3	LRTM1	3	54952751	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	7482749	54952751	143069679	14	12034											
DNAJC13	23317	genome.wustl.edu	37	chr3	132165329	132165329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgtaggtataagcgtGtcttttcagttggaactcat	9	7	3	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr3:132165329G>T	ENST00000260818.6	+	3	327	c.79G>T	c.(79-81)Gtc>Ttc	p.V27F	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	27					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTATAAGCGTGTCTTTTCAGT	0.289																																																	0								ENSG00000138246						86	82	83					3																	132165329		2203	4300	6503	DNAJC13	SO:0001583	missense	0			-	HGNC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.79G>T	3.37:g.132165329G>T	ENSP00000260818:p.Val27Phe	Somatic	0	67	0		0.400331380533959	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.V27F	ENST00000260818.6	37	c.79	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693764	0.88735	.	.	ENSG00000138246	ENST00000260818	T	0.22134	1.97	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	L	0.27053	0.805	0.80722	D	1	B;P	0.50943	0.126;0.94	B;B	0.43680	0.085;0.427	T	0.00964	-1.1498	10	0.37606	T	0.19	.	19.4758	0.94987	0.0:0.0:1.0:0.0	.	27;27	A7E2Y5;O75165	.;DJC13_HUMAN	F	27	ENSP00000260818:V27F	ENSP00000260818:V27F	V	+	1	0	DNAJC13	133648019	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.869000	0.99810	2.607000	0.88179	0.563000	0.77884	GTC	-	NULL		0.289	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	protein_coding	OTTHUMT00000356807.2	G	NM_015268	-		132165329	1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132165329	G	T	132165329	3	4	171	1	0	0	0	0	1	0	0	0	4634	1377	48	3	85	3	DNAJC13	3	132165329	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	77212578	132165329	65857101	15	12035											
NDST4	64579	genome.wustl.edu	37	chr4	115749050	115749050	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcagtttggatagttcCacattatgatctcggtagta	10	6	1	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr4:115749050C>A	ENST00000264363.2	-	14	3219	c.2541G>T	c.(2539-2541)gtG>gtT	p.V847V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	847	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGGATAGTTCCACATTATGAT	0.428																																																	0								ENSG00000138653						113	108	110					4																	115749050		2203	4300	6503	NDST4	SO:0001819	synonymous_variant	0			-	HGNC	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2541G>T	4.37:g.115749050C>A		Somatic	0	44	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q2KHM8	Silent	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V847	ENST00000264363.2	37	c.2541	CCDS3706.1	4																																																																																			-	superfamily_P-loop_NTPase		0.428	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	C	NM_022569	-		115749050	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	SNP	1.000	A	A	115749050	C	A	115749050	2	1	171	1	0	0	0	0	0	0	0	1	10260	581	21	3		3	NDST4	4	115749050	Silent	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		115749050	75405226	16	12036											
TRPC3	7222	genome.wustl.edu	37	chr4	122824166	122824166	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttttccatcatcaaaataGgataaccaaagttttgaacg	6	7	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr4:122824166G>T	ENST00000379645.3	-	9	2377	c.2304C>A	c.(2302-2304)tcC>tcA	p.S768S	TRPC3_ENST00000513531.1_Silent_p.S640S|TRPC3_ENST00000264811.5_Silent_p.S695S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	683	Binds to IP3R3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATCAAAATAGGATAACCAAA	0.308																																																	0								ENSG00000138741						80	80	80					4																	122824166		2203	4300	6503	TRPC3	SO:0001819	synonymous_variant	0			-	HGNC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2304C>A	4.37:g.122824166G>T		Somatic	0	54	0		0.400331380533959	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S768	ENST00000379645.3	37	c.2304	CCDS47130.1	4																																																																																			-	tigrfam_TRP_channel		0.308	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	protein_coding	OTTHUMT00000364252.1	G	NM_003305	-		122824166	-1	no_errors	ENST00000379645	ensembl	human	known	74_37	silent	SNP	0.819	T	T	122824166	G	T	122824166	2	4	171	1	0	0	0	0	0	0	0	1	16586	987	35	3		3	TRPC3	4	122824166	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	7075116	122824166	68330110	17	12037											
WDR55	54853	genome.wustl.edu	37	chr5	140048683	140048683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggggaagaaggtagcctGtggctccagtgaaggtacca	17	7	0	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr5:140048683G>A	ENST00000358337.5	+	6	917	c.680G>A	c.(679-681)tGt>tAt	p.C227Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	227					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGTAGCCTGTGGCTCCAGT	0.527																																																	0								ENSG00000120314						77	80	79					5																	140048683		2203	4300	6503	WDR55	SO:0001583	missense	0			-	HGNC	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"WD repeat domain containing"	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.680G>A	5.37:g.140048683G>A	ENSP00000351100:p.Cys227Tyr	Somatic	0	65	0		0.400331380533959	47	9.62	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	76	9.52	Q9NXK4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C227Y	ENST00000358337.5	37	c.680	CCDS4235.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942498	0.73672	.	.	ENSG00000120314	ENST00000358337	T	0.40476	1.03	4.97	4.97	0.65823	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	0.68550	0.3013	M	0.85630	2.765	0.80722	D	1	D;P	0.71674	0.998;0.947	D;P	0.74023	0.982;0.527	T	0.75274	-0.3375	10	0.87932	D	0	-7.876	17.0088	0.86400	0.0:0.0:1.0:0.0	.	66;227	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	Y	227	ENSP00000351100:C227Y	ENSP00000351100:C227Y	C	+	2	0	WDR55	140028867	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.539000	0.98076	2.286000	0.76751	0.467000	0.42956	TGT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat_dom		0.527	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR55	protein_coding	OTTHUMT00000251680.3	G	NM_017706	-		140048683	1	no_errors	ENST00000358337	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140048683	G	A	140048683	3	1	171	1	0	0	0	0	1	0	0	0	17314	1377	48	2	702	2	WDR55	5	140048683	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		140048683	40866577	18	12038											
PKHD1	5314	genome.wustl.edu	37	chr6	51609282	51609282	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccatccagatccttgaagaGatattttcttggacttgcac	7	11	1	3			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr6:51609282G>T	ENST00000371117.3	-	60	10332	c.10057C>A	c.(10057-10059)Ctc>Atc	p.L3353I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L3353I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3353					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)					TCCTTGAAGAGATATTTTCTT	0.428																																																	0								ENSG00000170927						95	93	94					6																	51609282		2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	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.10057C>A	6.37:g.51609282G>T	ENSP00000360158:p.Leu3353Ile	Somatic	0	33	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.L3353I	ENST00000371117.3	37	c.10057	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310254	0.81358	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90197	-2.43;-2.63	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	D	0.93930	0.8057	M	0.65975	2.015	0.36492	D	0.868468	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.80764	0.968;0.945;0.994	D	0.94171	0.7423	10	0.56958	D	0.05	.	18.0999	0.89503	0.0:0.0:1.0:0.0	.	3353;3353;3353	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	3353	ENSP00000360158:L3353I;ENSP00000341097:L3353I	ENSP00000341097:L3353I	L	-	1	0	PKHD1	51717241	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	6.175000	0.71949	2.615000	0.88500	0.650000	0.86243	CTC	-	NULL		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	-		51609282	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51609282	G	T	51609282	3	4	171	1	0	0	0	0	1	0	0	0	11973	942	33	3	2238	3	PKHD1	6	51609282	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		51609282	119505785	19	12039											
LAMA2	3908	genome.wustl.edu	37	chr6	129637283	129637283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcattacattcttatcaAagctacttatggaaatttca	3	7	4	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr6:129637283A>G	ENST00000421865.2	+	27	4074	c.4025A>G	c.(4024-4026)aAa>aGa	p.K1342R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1342	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)			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)		ATTCTTATCAAAGCTACTTAT	0.343																																																	0								ENSG00000196569						63	70	68					6																	129637283		2203	4298	6501	LAMA2	SO:0001583	missense	0			-	HGNC	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.4025A>G	6.37:g.129637283A>G	ENSP00000400365:p.Lys1342Arg	Somatic	0	54	0		0.400331380533959	15	16.67	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	65	9.72	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.K1342R	ENST00000421865.2	37	c.4025	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084463	0.76642	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32023	1.47	5.54	5.54	0.83059	Laminin B type IV (2);Laminin B, subgroup (1);	0.051277	0.85682	D	0.000000	T	0.22627	0.0546	L	0.28608	0.87	0.49213	D	0.999763	P;P	0.52692	0.955;0.955	P;P	0.53224	0.721;0.721	T	0.01945	-1.1242	10	0.22706	T	0.39	.	15.9796	0.80097	1.0:0.0:0.0:0.0	.	1342;1342	A6NF00;P24043	.;LAMA2_HUMAN	R	1342	ENSP00000400365:K1342R	ENSP00000346769:K1342R	K	+	2	0	LAMA2	129678976	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.629000	0.67798	2.225000	0.72522	0.528000	0.53228	AAA	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.343	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	A		-		129637283	1	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	SNP	1.000	G	G	129637283	A	G	129637283	3	3	171	1	0	0	0	0	1	0	0	0	8608	14	1	5	4131	5	LAMA2	6	129637283	Missense_Mutation	SNP	A	TCGA-K1-A6RT-01A-32D-A33E-09	78028001	129637283	41477784	20	12040											
PLEKHG1	57480	genome.wustl.edu	37	chr6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacacaatgcagcgagtcGcctggcatatcaatgacatg	10	10	1	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr6:151125824G>A	ENST00000358517.2	+	7	1070	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A287T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	287	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A287T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCGAGTCGCCTGGCATAT	0.517																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000120278						83	76	78					6																	151125824		2203	4300	6503	PLEKHG1	SO:0001583	missense	0			-	HGNC	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.859G>A	6.37:g.151125824G>A	ENSP00000351318:p.Ala287Thr	Somatic	0	32	0		0.400331380533959	28	16.67	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5T1F2	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A287T	ENST00000358517.2	37	c.859	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.042648	0.97231	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.83852	2.665	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	T	0.82335	-0.0508	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	94;287;287	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	T	287	ENSP00000356297:A287T;ENSP00000351318:A287T	ENSP00000351318:A287T	A	+	1	0	PLEKHG1	151167517	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.731000	0.98807	2.941000	0.99782	0.655000	0.94253	GCC	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	protein_coding	OTTHUMT00000042691.1	G		-		151125824	1	no_errors	ENST00000358517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151125824	G	A	151125824	3	1	171	1	0	0	0	0	1	0	0	0	12070	1087	38	1	881	1	PLEKHG1	6	151125824	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	21488541	151125824	19989243	21	12041											
PCLO	27445	genome.wustl.edu	37	chr7	82784690	82784690	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agactgtagcccaggttgttGagctaggggttttggtgtcc	15	7	0	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr7:82784690G>T	ENST00000333891.9	-	2	1604	c.1267C>A	c.(1267-1269)Caa>Aaa	p.Q423K	PCLO_ENST00000423517.2_Missense_Mutation_p.Q423K	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						CCAGGTTGTTGAGCTAGGGGT	0.582																																																	0								ENSG00000186472						123	125	124					7																	82784690		2015	4178	6193	PCLO	SO:0001583	missense	0			-	HGNC	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.1267C>A	7.37:g.82784690G>T	ENSP00000334319:p.Gln423Lys	Somatic	0	30	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q423K	ENST00000333891.9	37	c.1267	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	8.742	0.919202	0.17982	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.34;2.3	5.31	5.31	0.75309	.	.	.	.	.	T	0.19208	0.0461	M	0.62723	1.935	0.80722	D	1	P;P	0.35272	0.493;0.493	B;B	0.30495	0.116;0.116	T	0.01940	-1.1243	9	0.87932	D	0	.	12.6755	0.56891	0.0757:0.0:0.9243:0.0	.	423;423	Q9Y6V0-5;Q9Y6V0-6	.;.	K	423	ENSP00000334319:Q423K;ENSP00000388393:Q423K	ENSP00000334319:Q423K	Q	-	1	0	PCLO	82622626	0.795000	0.28851	0.349000	0.25694	0.099000	0.18886	1.631000	0.37092	2.653000	0.90120	0.655000	0.94253	CAA	-	NULL		0.582	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82784690	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.826	T	T	82784690	G	T	82784690	3	4	171	1	0	0	0	0	1	0	0	0	11585	1299	45	3	14274	3	PCLO	7	82784690	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		82784690	76353973	22	12042											
TES	26136	genome.wustl.edu	37	chr7	115897455	115897455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtgctcttgctgcagCaaatgcctcattgggcagaa	10	10	3	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr7:115897455C>A	ENST00000358204.4	+	7	1400	c.1185C>A	c.(1183-1185)agC>agA	p.S395R	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.S386R|TES_ENST00000537767.1_Missense_Mutation_p.S153R|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	395	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTTGCTGCAGCAAATGCCTCA	0.498																																																	0								ENSG00000135269						114	97	103					7																	115897455		2203	4300	6503	TES	SO:0001583	missense	0			-	HGNC	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.1185C>A	7.37:g.115897455C>A	ENSP00000350937:p.Ser395Arg	Somatic	0	32	0		0.400331380533959	265	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP							pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S395R	ENST00000358204.4	37	c.1185	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883712	0.72410	.	.	ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481	T;D;D	0.87334	0.19;-2.24;-2.24	5.64	5.64	0.86602	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	N	0.20530	0.585	0.80722	D	1	B	0.27679	0.185	B	0.23150	0.044	T	0.74297	-0.3711	10	0.25751	T	0.34	-17.831	20.0769	0.97748	0.0:1.0:0.0:0.0	.	395	Q9UGI8	TES_HUMAN	R	395;153;395;386	ENSP00000350937:S395R;ENSP00000441607:S153R;ENSP00000377121:S386R	ENSP00000257721:S395R	S	+	3	2	TES	115684691	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.030000	0.70903	2.820000	0.97059	0.650000	0.86243	AGC	-	pfam_Znf_LIM,smart_Znf_LIM		0.498	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	protein_coding	OTTHUMT00000059413.2	C	NM_015641	-		115897455	1	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115897455	C	A	115897455	3	1	171	1	0	0	0	0	1	0	0	0	15772	709	25	3	1211	3	TES	7	115897455	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	33112765	115897455	43241208	23	12043											
UBN2	254048	genome.wustl.edu	37	chr7	138968377	138968377	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcccaaattgctgcctcttCtcatgctctgggaacatccg	8	14	3	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr7:138968377C>A	ENST00000473989.3	+	15	2726	c.2726C>A	c.(2725-2727)tCt>tAt	p.S909Y	UBN2_ENST00000288561.8_Missense_Mutation_p.S826Y	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	909	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						GCTGCCTCTTCTCATGCTCTG	0.488																																																	0								ENSG00000157741						79	78	78					7																	138968377		2000	4177	6177	UBN2	SO:0001583	missense	0			-	HGNC	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.2726C>A	7.37:g.138968377C>A	ENSP00000418648:p.Ser909Tyr	Somatic	0	45	0		0.400331380533959	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP							NULL	p.S909Y	ENST00000473989.3	37	c.2726	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284339	0.59867	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35236	1.32;1.39	5.62	4.74	0.60224	.	0.200144	0.38381	N	0.001711	T	0.47284	0.1437	L	0.34521	1.04	0.44447	D	0.997376	D	0.67145	0.996	D	0.74023	0.982	T	0.33752	-0.9856	10	0.27785	T	0.31	-12.1646	15.1234	0.72463	0.0:0.9317:0.0:0.0683	.	909	Q6ZU65	UBN2_HUMAN	Y	909;826	ENSP00000418648:S909Y;ENSP00000288561:S826Y	ENSP00000288561:S826Y	S	+	2	0	UBN2	138618917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.495000	0.66912	1.517000	0.48917	0.467000	0.42956	TCT	-	NULL		0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	C	NM_173569	-		138968377	1	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138968377	C	A	138968377	3	1	171	1	0	0	0	0	1	0	0	0	16900	913	32	3	2784	3	UBN2	7	138968377	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	23070922	138968377	20170286	24	12044											
STK3	6788	genome.wustl.edu	37	chr8	99539036	99539036	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtttttggacatagggaaGggttcatgcatgttctgatt	12	5	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr8:99539036G>T	ENST00000419617.2	-	10	1391	c.1251C>A	c.(1249-1251)ccC>ccA	p.P417P	STK3_ENST00000523601.1_Silent_p.P445P	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	417					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACATAGGGAAGGGTTCATGCA	0.358																																																	0								ENSG00000104375						144	136	139					8																	99539036		1866	4106	5972	STK3	SO:0001819	synonymous_variant	0			-	HGNC	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1251C>A	8.37:g.99539036G>T		Somatic	0	44	0		0.400331380533959	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.34	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom	p.P417	ENST00000419617.2	37	c.1251	CCDS47900.1	8																																																																																			-	NULL		0.358	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	protein_coding	OTTHUMT00000379635.1	G	NM_006281	-		99539036	-1	no_errors	ENST00000419617	ensembl	human	known	74_37	silent	SNP	0.996	T	T	99539036	G	T	99539036	2	4	171	1	0	0	0	0	0	0	0	1	15302	987	35	3		3	STK3	8	99539036	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		99539036	46824986	25	12045											
STOML2	30968	genome.wustl.edu	37	chr9	35101135	35101135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccctctcctgacctgCtgcctgatttatctgttcag	6	15	4	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr9:35101135C>T	ENST00000356493.5	-	7	783	c.721G>A	c.(721-723)Gca>Aca	p.A241T	STOML2_ENST00000452248.2_Missense_Mutation_p.A196T|STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	241					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTGACCTGCTGCCTGATTT	0.557																																																	0								ENSG00000165283						103	103	103					9																	35101135		2203	4300	6503	STOML2	SO:0001583	missense	0			-	HGNC	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.721G>A	9.37:g.35101135C>T	ENSP00000348886:p.Ala241Thr	Somatic	0	46	0		0.400331380533959	360	8.63	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP							pfam_Band_7,smart_Band_7,prints_Stomatin	p.A241T	ENST00000356493.5	37	c.721	CCDS6577.1	9	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747165	0.30955	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98135	-3.47;-4.74	5.02	5.02	0.67125	.	0.170779	0.52532	D	0.000076	D	0.93396	0.7894	N	0.05487	-0.04	0.50632	D	0.999886	B;B	0.14012	0.005;0.009	B;B	0.22152	0.038;0.038	D	0.89456	0.3733	10	0.23891	T	0.37	.	18.5271	0.90976	0.0:1.0:0.0:0.0	.	196;241	B4E1K7;Q9UJZ1	.;STML2_HUMAN	T	241;196	ENSP00000348886:A241T;ENSP00000395743:A196T	ENSP00000348886:A241T	A	-	1	0	STOML2	35091135	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.840000	0.55843	2.623000	0.88846	0.563000	0.77884	GCA	-	NULL		0.557	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML2	protein_coding	OTTHUMT00000052273.1	C	NM_013442	-		35101135	-1	no_errors	ENST00000356493	ensembl	human	known	74_37	missense	SNP	0.999	T	T	35101135	C	T	35101135	3	4	171	1	0	0	0	0	1	0	0	0	15321	797	28	2	365	2	STOML2	9	35101135	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		35101135	106112296	26	12046											
TMEFF1	8577	genome.wustl.edu	37	chr9	103271362	103271362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctttctcagaagggctGcttgtaagcaccagaaagag	11	8	1	3			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr9:103271362G>A	ENST00000374879.4	+	3	814	c.382G>A	c.(382-384)Gct>Act	p.A128T	TMEFF1_ENST00000334943.6_Missense_Mutation_p.A89T|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.C91Y	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	128	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CAGAAGGGCTGCTTGTAAGCA	0.358																																																	0								ENSG00000241697						107	107	107					9																	103271362		2203	4300	6503	TMEFF1	SO:0001583	missense	0			-	HGNC	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.382G>A	9.37:g.103271362G>A	ENSP00000364013:p.Ala128Thr	Somatic	0	41	0		0.400331380533959	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q13086|Q8N3T8	Missense_Mutation	SNP							pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.A128T	ENST00000374879.4	37	c.382	CCDS6750.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.989218|3.989218	0.74589|0.74589	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	T;T|.	0.04454|.	3.62;3.62|.	5.58|5.58	3.53|3.53	0.40419|0.40419	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);|.	0.210998|.	0.42053|.	D|.	0.000770|.	T|T	0.74906|0.74906	0.3778|0.3778	M|M	0.83223|0.83223	2.63|2.63	0.52501|0.52501	D|D	0.999957|0.999957	D;B|.	0.59357|.	0.985;0.419|.	D;B|.	0.65773|.	0.938;0.201|.	T|T	0.77040|0.77040	-0.2735|-0.2735	10|5	0.72032|.	D|.	0.01|.	-23.6415|-23.6415	12.1429|12.1429	0.54008|0.54008	0.0:0.0:0.6452:0.3548|0.0:0.0:0.6452:0.3548	.|.	128;89|.	Q8IYR6;Q8IYR6-2|.	TEFF1_HUMAN;.|.	T|Y	89;128|91	ENSP00000334447:A89T;ENSP00000364013:A128T|.	ENSP00000334447:A89T|.	A|C	+|+	1|2	0|0	TMEFF1|C9orf30-TMEFF1	102311183|102311183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.310000|5.310000	0.65780|0.65780	1.305000|1.305000	0.44909|0.44909	0.650000|0.650000	0.86243|0.86243	GCT|TGC	-	pfam_Kazal_dom,smart_Kazal_dom		0.358	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	protein_coding	OTTHUMT00000053418.1	G	NM_003692	-		103271362	1	no_errors	ENST00000374879	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103271362	G	A	103271362	3	1	171	1	0	0	0	0	1	0	0	0	16020	1319	46	2	392	2	TMEFF1	9	103271362	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	68170227	103271362	37942069	27	12047											
ABCA1	19	genome.wustl.edu	37	chr9	107576725	107576725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaggtctcagcatccAccccactctcttcggccacc	6	19	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr9:107576725A>G	ENST00000374736.3	-	26	4164	c.3770T>C	c.(3769-3771)gTg>gCg	p.V1257A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1257					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTCAGCATCCACCCCACTCTC	0.478																																																	0								ENSG00000165029						125	97	106					9																	107576725		2203	4300	6503	ABCA1	SO:0001583	missense	0			-	HGNC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3770T>C	9.37:g.107576725A>G	ENSP00000363868:p.Val1257Ala	Somatic	0	36	0		0.400331380533959	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1257A	ENST00000374736.3	37	c.3770	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714398	0.30413	.	.	ENSG00000165029	ENST00000374736	D	0.83755	-1.76	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	N	0.08118	0	0.80722	D	1	B	0.17038	0.02	B	0.21360	0.034	T	0.63065	-0.6720	10	0.08179	T	0.78	.	15.2403	0.73465	1.0:0.0:0.0:0.0	.	1257	O95477	ABCA1_HUMAN	A	1257	ENSP00000363868:V1257A	ENSP00000363868:V1257A	V	-	2	0	ABCA1	106616546	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.804000	0.91921	2.022000	0.59522	0.454000	0.30748	GTG	-	NULL		0.478	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	protein_coding	OTTHUMT00000053491.1	A	NM_005502	-		107576725	-1	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	SNP	1.000	G	G	107576725	A	G	107576725	3	3	171	1	0	0	0	0	1	0	0	0	28	159	6	5	3115	5	ABCA1	9	107576725	Missense_Mutation	SNP	A	TCGA-K1-A6RT-01A-32D-A33E-09	4305363	107576725	33636706	28	12048											
LCN8	138307	genome.wustl.edu	37	chr9	139649957	139649957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgtccagcacgtggaTctctctgtggccttcaagag	13	11	3	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr9:139649957T>A	ENST00000371688.3	-	4	533	c.238A>T	c.(238-240)Atc>Ttc	p.I80F	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	103					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGCACGTGGATCTCTCTGTGG	0.617																																																	0								ENSG00000204001						56	40	45					9																	139649957		2202	4299	6501	LCN8	SO:0001583	missense	0			-	HGNC	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"Lipocalins"	27038	protein-coding gene	gene with protein product		612902	"chromosome 9 open reading frame 137", "lipocalin 5"	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.238A>T	9.37:g.139649957T>A	ENSP00000360753:p.Ile80Phe	Somatic	0	112	0		0.400331380533959	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	175	9.33	A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.I80F	ENST00000371688.3	37	c.238	CCDS35183.1	9	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967014	0.53507	.	.	ENSG00000204001	ENST00000371688	T	0.07908	3.15	3.62	2.42	0.29668	.	.	.	.	.	T	0.07954	0.0199	L	0.60455	1.87	0.33944	D	0.643614	P	0.43701	0.815	B	0.37304	0.246	T	0.30966	-0.9960	9	0.27082	T	0.32	.	6.8845	0.24191	0.0:0.0:0.2375:0.7625	.	80	Q6JVE9-2	.	F	80	ENSP00000360753:I80F	ENSP00000360753:I80F	I	-	1	0	LCN8	138769778	0.187000	0.23238	0.989000	0.46669	0.901000	0.52897	0.205000	0.17356	0.715000	0.32103	0.402000	0.26972	ATC	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.617	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN8	protein_coding	OTTHUMT00000055109.1	T	NM_178469	-		139649957	-1	no_errors	ENST00000371688	ensembl	human	known	74_37	missense	SNP	0.991	A	A	139649957	T	A	139649957	3	1	171	1	0	0	0	0	1	0	0	0	8688	1435	50	5	236	5	LCN8	9	139649957	Missense_Mutation	SNP	T	TCGA-K1-A6RT-01A-32D-A33E-09	32073232	139649957	1563474	29	12049											
STAM	8027	genome.wustl.edu	37	chr10	17738849	17738849	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattttgtgactgcagatctCactgctgaaccagaaatgag	9	8	1	5			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr10:17738849C>A	ENST00000377524.3	+	8	1019	c.804C>A	c.(802-804)ctC>ctA	p.L268L	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_Silent_p.L157L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	268	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGCAGATCTCACTGCTGAAC	0.358																																																	0								ENSG00000136738						122	107	112					10																	17738849		2203	4300	6503	STAM	SO:0001819	synonymous_variant	0			-	HGNC	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.804C>A	10.37:g.17738849C>A		Somatic	0	30	0		0.400331380533959	63	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.43	B0YJ99|D3DRU5|Q8N6D9	Silent	SNP							pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.L268	ENST00000377524.3	37	c.804	CCDS7122.1	10																																																																																			-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.358	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	protein_coding	OTTHUMT00000047039.1	C	NM_003473	-		17738849	1	no_errors	ENST00000377524	ensembl	human	known	74_37	silent	SNP	0.971	A	A	17738849	C	A	17738849	2	1	171	1	0	0	0	0	0	0	0	1	15255	813	29	3		3	STAM	10	17738849	Silent	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		17738849	117795898	30	12050											
SLC18A2	6571	genome.wustl.edu	37	chr10	119001250	119001250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgctggctgcaggagagcCgccgctcgcggaagctcatc	14	15	1	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr10:119001250C>A	ENST00000298472.5	+	2	189	c.46C>A	c.(46-48)Cgc>Agc	p.R16S	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	16					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)	GCAGGAGAGCCGCCGCTCGCG	0.706																																																	0								ENSG00000165646						25	24	24					10																	119001250		2203	4300	6503	SLC18A2	SO:0001583	missense	0			-	HGNC	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.46C>A	10.37:g.119001250C>A	ENSP00000298472:p.Arg16Ser	Somatic	0	17	0		0.400331380533959	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R16S	ENST00000298472.5	37	c.46	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552699	0.86127	.	.	ENSG00000165646	ENST00000298472	T	0.04502	3.61	5.19	4.28	0.50868	Major facilitator superfamily domain, general substrate transporter (1);	0.058865	0.64402	D	0.000004	T	0.12092	0.0294	M	0.80746	2.51	0.58432	D	0.999998	P	0.38863	0.65	B	0.43413	0.419	T	0.00891	-1.1525	10	0.56958	D	0.05	-15.5374	12.191	0.54270	0.0:0.9208:0.0:0.0792	.	16	Q05940	VMAT2_HUMAN	S	16	ENSP00000298472:R16S	ENSP00000298472:R16S	R	+	1	0	SLC18A2	118991240	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	1.594000	0.36697	1.181000	0.42912	0.563000	0.77884	CGC	-	superfamily_MFS_dom_general_subst_transpt		0.706	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	protein_coding	OTTHUMT00000050563.1	C	NM_003054	-		119001250	1	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119001250	C	A	119001250	3	1	171	1	0	0	0	0	1	0	0	0	14434	652	23	3	48	3	SLC18A2	10	119001250	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	101262401	119001250	16533497	31	12051											
MMP3	4314	genome.wustl.edu	37	chr11	102713509	102713509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcatcacctccagagtgtCggagtccagcttccccgtca	10	16	2	1	rs552104362		TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr11:102713509C>T	ENST00000299855.5	-	2	500	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	82					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCCAGAGTGTCGGAGTCCAGC	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		16273	0		0	False		,,,				2504	0																0								ENSG00000149968						71	61	65					11																	102713509		2203	4299	6502	MMP3	SO:0001583	missense	0			-	HGNC	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.244G>A	11.37:g.102713509C>T	ENSP00000299855:p.Asp82Asn	Somatic	0	44	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D82N	ENST00000299855.5	37	c.244	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	C	1.162	-0.643424	0.03531	.	.	ENSG00000149968	ENST00000299855	T	0.35421	1.31	6.16	-3.62	0.04543	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.636993	0.12802	N	0.437865	T	0.18383	0.0441	N	0.12920	0.275	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32295	-0.9912	10	0.09338	T	0.73	.	15.343	0.74311	0.0:0.4101:0.0:0.5899	.	82	P08254	MMP3_HUMAN	N	82	ENSP00000299855:D82N	ENSP00000299855:D82N	D	-	1	0	MMP3	102218719	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.561000	0.02158	-0.648000	0.05437	-0.781000	0.03364	GAC	-	pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.502	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	protein_coding	OTTHUMT00000109758.2	C	NM_002422	-		102713509	-1	no_errors	ENST00000299855	ensembl	human	known	74_37	missense	SNP	0.000	T	T	102713509	C	T	102713509	3	4	171	1	0	0	0	0	1	0	0	0	9668	884	31	1	1225	1	MMP3	11	102713509	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		102713509	32293007	32	12052											
GSG1	83445	genome.wustl.edu	37	chr12	13243611	13243611	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttggctgccagacctttctCgcacaggggcttgggcacct	12	14	1	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr12:13243611C>A	ENST00000432710.2	-	2	322	c.190G>T	c.(190-192)Gag>Tag	p.E64*	GSG1_ENST00000351606.6_Nonsense_Mutation_p.E64*|GSG1_ENST00000457134.2_Nonsense_Mutation_p.E51*|GSG1_ENST00000396310.2_Nonsense_Mutation_p.E48*|GSG1_ENST00000337630.6_Nonsense_Mutation_p.E51*|GSG1_ENST00000396302.3_Nonsense_Mutation_p.E51*|GSG1_ENST00000537302.1_Nonsense_Mutation_p.E51*|GSG1_ENST00000324458.8_Nonsense_Mutation_p.E64*	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGACCTTTCTCGCACAGGGGC	0.542																																																	0								ENSG00000111305						127	110	116					12																	13243611		2203	4300	6503	GSG1	SO:0001587	stop_gained	0			-	HGNC	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.190G>T	12.37:g.13243611C>A	ENSP00000405032:p.Glu64*	Somatic	0	30	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Nonsense_Mutation	SNP							pfam_GSG-1	p.E64*	ENST00000432710.2	37	c.190	CCDS55808.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.595618	0.96602	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	.	.	.	5.4	3.58	0.41010	.	0.419213	0.26903	N	0.021916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	12.098	0.53765	0.0:0.8595:0.0:0.1405	.	.	.	.	X	51;64;48;51;51;64;51;64;48;64;64;51	.	ENSP00000320838:E64X	E	-	1	0	GSG1	13134878	0.996000	0.38824	0.987000	0.45799	0.828000	0.46876	0.446000	0.21694	0.659000	0.30945	0.561000	0.74099	GAG	-	pfam_GSG-1		0.542	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1	protein_coding	OTTHUMT00000316546.1	C	NM_031289	-		13243611	-1	no_errors	ENST00000324458	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	13243611	C	A	13243611	4	1	171	1	0	0	0	0	0	1	0	0	6822	893	31	3	1046	3	GSG1	12	13243611	Nonsense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		13243611	120608284	33	12053											
LRRK2	120892	genome.wustl.edu	37	chr12	40677723	40677723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggtggaactcttactgaAtagtggatctcgtgaacaag	11	6	2	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr12:40677723A>G	ENST00000298910.7	+	19	2346	c.2288A>G	c.(2287-2289)aAt>aGt	p.N763S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N763S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	763					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCTTACTGAATAGTGGATCT	0.383																																																	0								ENSG00000188906						118	111	113					12																	40677723		2203	4300	6503	LRRK2	SO:0001583	missense	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2288A>G	12.37:g.40677723A>G	ENSP00000298910:p.Asn763Ser	Somatic	0	34	0		0.400331380533959	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.N763S	ENST00000298910.7	37	c.2288	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660709	0.14645	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.50001	0.76;1.48;1.48	5.03	1.39	0.22231	Ankyrin repeat-containing domain (1);	0.905402	0.09718	N	0.764879	T	0.24198	0.0586	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.24905	-1.0147	10	0.16420	T	0.52	.	5.929	0.19128	0.6337:0.1398:0.2264:0.0	.	763;763	E9PC85;Q5S007	.;LRRK2_HUMAN	S	511;763;763	ENSP00000398726:N511S;ENSP00000341930:N763S;ENSP00000298910:N763S	ENSP00000298910:N763S	N	+	2	0	LRRK2	38963990	0.622000	0.27085	0.002000	0.10522	0.831000	0.47069	1.282000	0.33226	0.334000	0.23590	-0.346000	0.07831	AAT	-	superfamily_ARM-type_fold		0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	A	XM_058513	-		40677723	1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	SNP	0.002	G	G	40677723	A	G	40677723	3	3	171	1	0	0	0	0	1	0	0	0	9035	101	4	5	2362	5	LRRK2	12	40677723	Missense_Mutation	SNP	A	TCGA-K1-A6RT-01A-32D-A33E-09	27434112	40677723	93174172	34	12054											
FGD6	55785	genome.wustl.edu	37	chr12	95603287	95603287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggctgttgaaggctcactGtttgacgatacggtgacaga	14	7	1	4			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr12:95603287G>T	ENST00000343958.4	-	2	1996	c.1773C>A	c.(1771-1773)aaC>aaA	p.N591K	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.N591K|FGD6_ENST00000549499.1_Missense_Mutation_p.N591K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	591					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						AAGGCTCACTGTTTGACGATA	0.438																																																	0								ENSG00000180263						118	119	119					12																	95603287		2203	4300	6503	FGD6	SO:0001583	missense	0			-	HGNC	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.1773C>A	12.37:g.95603287G>T	ENSP00000344446:p.Asn591Lys	Somatic	0	30	0		0.400331380533959	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.N591K	ENST00000343958.4	37	c.1773	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	G	6.130	0.392284	0.11638	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68181	-0.21;-0.31;-0.23	6.04	2.5	0.30297	.	0.122297	0.36972	N	0.002306	T	0.52158	0.1717	L	0.41236	1.265	0.09310	N	1	B	0.18863	0.031	B	0.13407	0.009	T	0.36601	-0.9741	10	0.28530	T	0.3	-6.8269	8.447	0.32847	0.5855:0.0:0.4145:0.0	.	591	Q6ZV73	FGD6_HUMAN	K	591	ENSP00000344446:N591K;ENSP00000450342:N591K;ENSP00000449005:N591K	ENSP00000344446:N591K	N	-	3	2	FGD6	94127418	0.775000	0.28604	0.073000	0.20177	0.413000	0.31143	1.427000	0.34881	0.558000	0.29135	-0.367000	0.07326	AAC	-	NULL		0.438	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	protein_coding	OTTHUMT00000407600.1	G	NM_018351	-		95603287	-1	no_errors	ENST00000343958	ensembl	human	known	74_37	missense	SNP	0.001	T	T	95603287	G	T	95603287	3	4	171	1	0	0	0	0	1	0	0	0	5839	1368	48	3	2599	3	FGD6	12	95603287	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	54925564	95603287	38248608	35	12055											
APPL2	55198	genome.wustl.edu	37	chr12	105597501	105597501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaccatgtctgcaacGgaggataaaaagctgtccat	9	9	1	1	rs577280673		TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr12:105597501G>A	ENST00000258530.3	-	9	909	c.684C>T	c.(682-684)tcC>tcT	p.S228S	APPL2_ENST00000539978.2_Silent_p.S185S|APPL2_ENST00000551662.1_Silent_p.S234S|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTGCAACGGAGGATAAAA	0.443																																																	0								ENSG00000136044						178	177	177					12																	105597501		2203	4300	6503	APPL2	SO:0001819	synonymous_variant	0			-	HGNC	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.684C>T	12.37:g.105597501G>A		Somatic	0	151	0		0.400331380533959	44	15.38	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	198	8.33	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP							pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.S234	ENST00000258530.3	37	c.702	CCDS9101.1	12																																																																																			-	NULL		0.443	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	protein_coding	OTTHUMT00000406238.3	G	NM_018171	-		105597501	-1	no_errors	ENST00000551662	ensembl	human	known	74_37	silent	SNP	0.806	A	A	105597501	G	A	105597501	2	1	171	1	0	0	0	0	0	0	0	1	818	1103	39	1		1	APPL2	12	105597501	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	9994214	105597501	28254394	36	12056											
POLE	5426	genome.wustl.edu	37	chr12	133208932	133208932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgatgaactccagggcaGggttattgagcagcaagtgg	14	6	0	3			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr12:133208932G>T	ENST00000320574.5	-	45	6342	c.6299C>A	c.(6298-6300)cCt>cAt	p.P2100H	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.P2073H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2100					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCCAGGGCAGGGTTATTGAG	0.512								DNA polymerases (catalytic subunits)																																									0								ENSG00000177084						100	90	93					12																	133208932		2203	4300	6503	POLE	SO:0001583	missense	0			-	HGNC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6299C>A	12.37:g.133208932G>T	ENSP00000322570:p.Pro2100His	Somatic	0	30	0		0.400331380533959	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q13533|Q86VH9	Missense_Mutation	SNP							pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.P2100H	ENST00000320574.5	37	c.6299	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.068271	0.93950	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.28255	1.62;1.62;1.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.985;0.993	T	0.73490	-0.3966	10	0.87932	D	0	.	18.8911	0.92403	0.0:0.0:1.0:0.0	.	2100;310	Q07864;B3KS74	DPOE1_HUMAN;.	H	310;2100;2111;15;2073	ENSP00000322570:P2100H;ENSP00000406383:P2111H;ENSP00000445753:P2073H	ENSP00000322473:P15H	P	-	2	0	POLE	131719005	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.762000	0.98944	2.453000	0.82957	0.484000	0.47621	CCT	-	NULL		0.512	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	protein_coding	OTTHUMT00000397689.2	G	NM_006231	-		133208932	-1	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133208932	G	T	133208932	3	4	171	1	0	0	0	0	1	0	0	0	12198	1000	35	3	581	3	POLE	12	133208932	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	27611431	133208932	642963	37	12057											
DGKH	160851	genome.wustl.edu	37	chr13	42793907	42793907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaggaaaaggttcagaAgcagaagacaagttcacagc	10	6	2	3			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr13:42793907A>C	ENST00000337343.4	+	28	3440	c.3419A>C	c.(3418-3420)aAg>aCg	p.K1140T	DGKH_ENST00000261491.5_Missense_Mutation_p.K1140T|DGKH_ENST00000538674.1_Missense_Mutation_p.K895T|DGKH_ENST00000379274.2_Missense_Mutation_p.K1004T|DGKH_ENST00000536612.1_Missense_Mutation_p.K1004T|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.K1140T	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1140					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGGTTCAGAAGCAGAAGACA	0.413																																																	0								ENSG00000102780						62	53	56					13																	42793907		2203	4300	6503	DGKH	SO:0001583	missense	0			-	HGNC	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3419A>C	13.37:g.42793907A>C	ENSP00000337572:p.Lys1140Thr	Somatic	0	37	0		0.400331380533959	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K1140T	ENST00000337343.4	37	c.3419	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331860	0.81801	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;T;T;T	0.83837	-1.77;-1.31;-1.77;-1.46;-1.47;1.46	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90075	0.6900	M	0.71581	2.175	0.58432	D	0.999992	D;P;D;B	0.76494	0.998;0.57;0.999;0.255	D;B;D;B	0.71414	0.957;0.295;0.973;0.067	D	0.91144	0.4948	10	0.72032	D	0.01	.	15.8028	0.78468	1.0:0.0:0.0:0.0	.	895;1004;1140;1140	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	T	1140;1140;1140;1004;1004;895	ENSP00000440823:K1140T;ENSP00000337572:K1140T;ENSP00000261491:K1140T;ENSP00000368576:K1004T;ENSP00000445114:K1004T;ENSP00000441308:K895T	ENSP00000261491:K1140T	K	+	2	0	DGKH	41691907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.549000	0.73900	2.183000	0.69458	0.533000	0.62120	AAG	-	NULL		0.413	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	protein_coding	OTTHUMT00000044699.2	A	NM_178009	-		42793907	1	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	SNP	1.000	C	C	42793907	A	C	42793907	3	2	171	1	0	0	0	0	1	0	0	0	4472	72	3	5	3529	5	DGKH	13	42793907	Missense_Mutation	SNP	A	TCGA-K1-A6RT-01A-32D-A33E-09		42793907	72375971	38	12058											
CYP19A1	1588	genome.wustl.edu	37	chr15	51503060	51503060	+	Frame_Shift_Del	DEL	T	T	-													taaagatcatttccagcatgTttttagtctcatctgggtgc							TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr15:51503060delT	ENST00000396402.1	-	10	1610	c.1457delA	c.(1456-1458)aacfs	p.N486fs	CYP19A1_ENST00000260433.2_Frame_Shift_Del_p.N486fs|CYP19A1_ENST00000559878.1_Frame_Shift_Del_p.N486fs|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Frame_Shift_Del_p.N486fs	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	486					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TTCCAGCATGTTTTTAGTCTC	0.458																																					Melanoma(142;1016 1807 39614 48966 51721)												0								ENSG00000137869						251	224	233					15																	51503060		2196	4293	6489	CYP19A1	SO:0001589	frameshift_variant	0				HGNC	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1457delA	15.37:g.51503060delT	ENSP00000379683:p.Asn486fs	Somatic	0	32	0		0.400331380533959	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q16731|Q3B764|Q58FA0|Q8IYJ7	Frame_Shift_Del	DEL							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.N486fs	ENST00000396402.1	37	c.1457	CCDS10139.1	15																																																																																			-	superfamily_Cyt_P450		0.458	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP19A1	protein_coding	OTTHUMT00000254669.1	T				51503060	-1	no_errors	ENST00000260433	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	51503060	T	-	51503060	7	5	171	1	0	1	0	1	0	0	0	0	4150	1725	60	0	58	0	CYP19A1	15	51503060	Frame_Shift_Del	DEL	T	TCGA-K1-A6RT-01A-32D-A33E-09		51503060	51028332	39	12059											
CHD9	80205	genome.wustl.edu	37	chr16	53190179	53190179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaaccatgttcaaggtactCcaacacatcagaagatgact	7	10	2	4			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr16:53190179C>A	ENST00000398510.3	+	1	265	c.178C>A	c.(178-180)Cca>Aca	p.P60T	CHD9_ENST00000564845.1_Missense_Mutation_p.P60T|CHD9_ENST00000566029.1_Missense_Mutation_p.P60T|CHD9_ENST00000447540.1_Missense_Mutation_p.P60T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	60					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAAGGTACTCCAACACATCA	0.358																																																	0								ENSG00000177200						102	95	97					16																	53190179		1871	4094	5965	CHD9	SO:0001583	missense	0			-	HGNC	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.178C>A	16.37:g.53190179C>A	ENSP00000381522:p.Pro60Thr	Somatic	0	51	0		0.400331380533959	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P60T	ENST00000398510.3	37	c.178		16	.	.	.	.	.	.	.	.	.	.	C	7.889	0.731897	0.15507	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.62364	0.03;0.03	5.84	2.75	0.32379	.	0.101212	0.43919	D	0.000502	T	0.49983	0.1589	L	0.43152	1.355	0.29478	N	0.856592	B;B;B;B	0.26845	0.013;0.008;0.161;0.013	B;B;B;B	0.23852	0.037;0.016;0.049;0.037	T	0.48375	-0.9041	10	0.52906	T	0.07	-4.0561	8.2478	0.31700	0.0:0.7253:0.1283:0.1465	.	60;60;60;60	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	T	60	ENSP00000396345:P60T;ENSP00000381522:P60T	ENSP00000381522:P60T	P	+	1	0	CHD9	51747680	0.996000	0.38824	0.998000	0.56505	0.863000	0.49368	0.964000	0.29306	0.330000	0.23485	0.650000	0.86243	CCA	-	NULL		0.358	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	C	NM_025134	-		53190179	1	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	SNP	0.960	A	A	53190179	C	A	53190179	3	1	171	1	0	0	0	0	1	0	0	0	3334	855	30	3	180	3	CHD9	16	53190179	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		53190179	37164574	40	12060											
CX3CL1	6376	genome.wustl.edu	37	chr16	57416150	57416150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagcccgaagccacaggcGaaagcagtagcctggagccg	15	12	0	0	rs558560542		TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr16:57416150G>A	ENST00000006053.6	+	3	511	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K|CX3CL1_ENST00000565912.1_Missense_Mutation_p.E96K	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	134	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCACAGGCGAAAGCAGTAG	0.667													G|||	1	0.000199681	0	0	5008	,	,		16015	0.001		0	False		,,,				2504	0																0								ENSG00000006210						28	31	30					16																	57416150		2176	4273	6449	CX3CL1	SO:0001583	missense	0			-	HGNC	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.400G>A	16.37:g.57416150G>A	ENSP00000006053:p.Glu134Lys	Somatic	0	109	0		0.400331380533959	68	1.45	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	118	10.53	O00672	Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1	p.E134K	ENST00000006053.6	37	c.400	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377866	0.42105	.	.	ENSG00000006210	ENST00000006053	T	0.04917	3.53	5.52	0.842	0.18927	.	4.963130	0.00357	N	0.000026	T	0.06188	0.0160	L	0.32530	0.975	0.09310	N	1	P	0.39404	0.672	B	0.28553	0.091	T	0.44236	-0.9341	10	0.87932	D	0	-18.0981	9.5259	0.39165	0.0:0.4781:0.3725:0.1494	.	134	P78423	X3CL1_HUMAN	K	134	ENSP00000006053:E134K	ENSP00000006053:E134K	E	+	1	0	CX3CL1	55973651	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.493000	0.22451	0.233000	0.21120	0.650000	0.86243	GAA	-	NULL		0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	protein_coding	OTTHUMT00000257345.3	G	NM_002996	-		57416150	1	no_errors	ENST00000006053	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57416150	G	A	57416150	3	1	171	1	0	0	0	0	1	0	0	0	4076	1059	37	1	410	1	CX3CL1	16	57416150	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	4225971	57416150	32938603	41	12061											
ZC3H18	124245	genome.wustl.edu	37	chr16	88643648	88643648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccgatcaggatttggaCggggcgggggtgagggcttc	21	7	1	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr16:88643648C>T	ENST00000301011.5	+	2	317	c.117C>T	c.(115-117)gaC>gaT	p.D39D	ZC3H18_ENST00000452588.2_Silent_p.D39D	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	39						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)		AGGATTTGGACGGGGCGGGGG	0.617																																					Ovarian(121;375 2276 20373 38669)												0								ENSG00000158545						28	30	29					16																	88643648		2198	4300	6498	ZC3H18	SO:0001819	synonymous_variant	0			-	HGNC	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.117C>T	16.37:g.88643648C>T		Somatic	0	84	0		0.400331380533959	42	10.42	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	113	10.94	Q96DG4|Q96MP7	Silent	SNP							smart_Znf_CCCH	p.D39	ENST00000301011.5	37	c.117	CCDS10967.1	16																																																																																			-	NULL		0.617	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	protein_coding	OTTHUMT00000269168.1	C	NM_144604	-		88643648	1	no_errors	ENST00000301011	ensembl	human	known	74_37	silent	SNP	0.063	T	T	88643648	C	T	88643648	2	4	171	1	0	0	0	0	0	0	0	1	17575	535	19	1		1	ZC3H18	16	88643648	Silent	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09	31227498	88643648	1711105	42	12062											
TP53	7157	genome.wustl.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	5	15	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000420246.2_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)						ENSG00000141510						49	44	46					17																	7577142		2203	4300	6503	TP53	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;	-	HGNC	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.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg	Somatic	0	23	0		0.400331380533959	77	22.22	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G266R	ENST00000269305.4	37	c.796	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577142	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577142	C	T	7577142	3	4	171	1	0	0	0	0	1	0	0	0	16388	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		7577142	73618068	43	12063											
SGTA	6449	genome.wustl.edu	37	chr19	2757763	2757763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaggggttgttgccacccGaaatcatgccggacatgctg	12	12	1	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr19:2757763G>A	ENST00000221566.2	-	10	916	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	252					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		GTTGCCACCCGAAATCATGCC	0.667																																																	0								ENSG00000104969						84	67	73					19																	2757763		2202	4300	6502	SGTA	SO:0001583	missense	0			-	HGNC	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.755C>T	19.37:g.2757763G>A	ENSP00000221566:p.Ser252Leu	Somatic	0	113	0		0.400331380533959	329	7.32	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	151	8.43	D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S252L	ENST00000221566.2	37	c.755	CCDS12094.1	19	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365421	0.24684	.	.	ENSG00000104969	ENST00000221566	T	0.37235	1.21	4.68	3.63	0.41609	.	0.439728	0.26055	N	0.026613	T	0.32645	0.0836	M	0.72118	2.19	0.58432	D	0.999995	P	0.46512	0.879	B	0.34180	0.177	T	0.26395	-1.0104	10	0.52906	T	0.07	-13.5307	11.172	0.48577	0.0:0.0:0.8153:0.1847	.	252	O43765	SGTA_HUMAN	L	252	ENSP00000221566:S252L	ENSP00000221566:S252L	S	-	2	0	SGTA	2708763	1.000000	0.71417	0.121000	0.21740	0.002000	0.02628	7.190000	0.77755	0.951000	0.37770	-0.181000	0.13052	TCG	-	NULL		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	protein_coding	OTTHUMT00000451448.2	G	NM_003021	-		2757763	-1	no_errors	ENST00000221566	ensembl	human	known	74_37	missense	SNP	0.964	A	A	2757763	G	A	2757763	3	1	171	1	0	0	0	0	1	0	0	0	14233	1059	37	1	194	1	SGTA	19	2757763	Missense_Mutation	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09		2757763	56371220	44	12064											
PEG3	5178	genome.wustl.edu	37	chr19	57327590	57327590	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcatcactttcaagAggtcttgttatagtatgact	7	9	4	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr19:57327590A>T	ENST00000326441.9	-	10	2583	c.2220T>A	c.(2218-2220)ccT>ccA	p.P740P	PEG3_ENST00000598410.1_Silent_p.P616P|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.P740P|PEG3_ENST00000593695.1_Silent_p.P614P|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	740					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACTTTCAAGAGGTCTTGTTA	0.408																																																	0								ENSG00000198300						133	127	129					19																	57327590		2203	4300	6503	PEG3	SO:0001819	synonymous_variant	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2220T>A	19.37:g.57327590A>T		Somatic	0	37	0		0.400331380533959	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P740	ENST00000326441.9	37	c.2220	CCDS12948.1	19																																																																																			-	NULL		0.408	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	A		-		57327590	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	SNP	0.056	T	T	57327590	A	T	57327590	2	4	171	1	0	0	0	0	0	0	0	1	11722	291	11	5		5	PEG3	19	57327590	Silent	SNP	A	TCGA-K1-A6RT-01A-32D-A33E-09	54569827	57327590	1801393	45	12065											
JAG1	182	genome.wustl.edu	37	chr20	10620502	10620502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgagtgtgtgtggcTgcccggcttccgccgcttcc	15	13	0	2			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr20:10620502T>C	ENST00000254958.5	-	26	3816	c.3301A>G	c.(3301-3303)Agc>Ggc	p.S1101G	JAG1_ENST00000423891.2_Missense_Mutation_p.S942G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1101					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGTGTGTGGCTGCCCGGCTTC	0.562									Alagille Syndrome																																								0								ENSG00000101384						77	72	73					20																	10620502		2203	4300	6503	JAG1	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3301A>G	20.37:g.10620502T>C	ENSP00000254958:p.Ser1101Gly	Somatic	0	56	0		0.400331380533959	53	31.17	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	66	12.00	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.S1101G	ENST00000254958.5	37	c.3301	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451877	0.26074	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.86230	-2.07;-2.09	5.65	5.65	0.86999	.	0.077210	0.85682	D	0.000000	T	0.81987	0.4939	L	0.27053	0.805	0.58432	D	0.999997	B	0.28552	0.215	B	0.32465	0.146	T	0.79172	-0.1913	10	0.37606	T	0.19	.	16.17	0.81801	0.0:0.0:0.0:1.0	.	1101	P78504	JAG1_HUMAN	G	1101;942	ENSP00000254958:S1101G;ENSP00000389519:S942G	ENSP00000254958:S1101G	S	-	1	0	JAG1	10568502	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.637000	0.61346	2.279000	0.76181	0.533000	0.62120	AGC	-	NULL		0.562	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		T	NM_000214	-		10620502	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10620502	T	C	10620502	3	2	171	1	0	0	0	0	1	0	0	0	7936	1580	55	5	359	5	JAG1	20	10620502	Missense_Mutation	SNP	T	TCGA-K1-A6RT-01A-32D-A33E-09		10620502	52405018	46	12066											
C20orf185	359710	genome.wustl.edu	37	chr20	31652609	31652609	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaccacgtttggactcctGcagaccaacggcgccctcga	9	16	0	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr20:31652609G>T	ENST00000375494.3	+	8	882	c.882G>T	c.(880-882)ctG>ctT	p.L294L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	294					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTGGACTCCTGCAGACCAACG	0.637																																																	0								ENSG00000186190						71	60	64					20																	31652609		2203	4300	6503	BPIFB3	SO:0001819	synonymous_variant	0			-	HGNC	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.882G>T	20.37:g.31652609G>T		Somatic	0	28	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	Q5TDX7	Silent	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L294	ENST00000375494.3	37	c.882	CCDS13212.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.637	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	protein_coding	OTTHUMT00000078654.2	G	NM_182658	-		31652609	1	no_errors	ENST00000375494	ensembl	human	known	74_37	silent	SNP	1.000	T	T	31652609	G	T	31652609	2	4	171	1	0	0	0	0	0	0	0	1	2099	1306	46	3		3	C20orf185	20	31652609	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	21032107	31652609	31372911	47	12067											
ELMO2	63916	genome.wustl.edu	37	chr20	45017815	45017815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccagccgggtctccatGttggatgactgggtcctctc	12	13	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chr20:45017815G>A	ENST00000290246.6	-	7	482	c.288C>T	c.(286-288)aaC>aaT	p.N96N	ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Silent_p.N96N|ELMO2_ENST00000372176.1_Silent_p.N8N|ELMO2_ENST00000352077.2_Silent_p.N96N|ELMO2_ENST00000396391.1_Silent_p.N96N	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	96					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGGTCTCCATGTTGGATGACT	0.562																																																	0								ENSG00000062598						111	96	101					20																	45017815		2203	4300	6503	ELMO2	SO:0001819	synonymous_variant	0			-	HGNC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.288C>T	20.37:g.45017815G>A		Somatic	0	32	0		0.400331380533959	65	1.49	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP							pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.N96	ENST00000290246.6	37	c.288	CCDS13398.1	20																																																																																			-	superfamily_ARM-type_fold		0.562	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	protein_coding	OTTHUMT00000080466.1	G	NM_022086	-		45017815	-1	no_errors	ENST00000439931	ensembl	human	known	74_37	silent	SNP	0.998	A	A	45017815	G	A	45017815	2	1	171	1	0	0	0	0	0	0	0	1	5068	1368	48	2		2	ELMO2	20	45017815	Silent	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	13365206	45017815	18007705	48	12068											
GPR143	4935	genome.wustl.edu	37	chrX	9728813	9728813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggttcatatccgagaCgctgtcaacaaaatttggga	11	8	2	1			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chrX:9728813C>T	ENST00000467482.1	-	2	450	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	GPR143_ENST00000380929.2_Missense_Mutation_p.V122I			P51810	GP143_HUMAN	G protein-coupled receptor 143	102					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				ATATCCGAGACGCTGTCAACA	0.483																																																	0								ENSG00000101850						92	67	75					X																	9728813		2203	4298	6501	GPR143	SO:0001583	missense	0			-	HGNC	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.304G>A	X.37:g.9728813C>T	ENSP00000417161:p.Val102Ile	Somatic	0	50	0		0.400331380533959	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	56	11.11	Q6NTI7	Missense_Mutation	SNP							pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.V122I	ENST00000467482.1	37	c.364	CCDS14134.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.006|0.006	-2.058442|-2.058442	0.00390|0.00390	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000447366|ENST00000467482;ENST00000380929;ENST00000431126	.|D;D;D	.|0.99042	.|-5.36;-5.36;-5.36	4.47|4.47	-1.27|-1.27	0.09347|0.09347	.|.	.|0.295033	.|0.36519	.|N	.|0.002557	D|D	0.88647|0.88647	0.6493|0.6493	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	0.999996|0.999996	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	D|D	0.87118|0.87118	0.2189|0.2189	5|10	.|0.02654	.|T	.|1	-7.6441|-7.6441	4.8129|4.8129	0.13353|0.13353	0.0:0.2704:0.1495:0.5801|0.0:0.2704:0.1495:0.5801	.|.	.|102	.|P51810	.|GP143_HUMAN	H|I	37|102;122;18	.|ENSP00000417161:V102I;ENSP00000370316:V122I;ENSP00000406138:V18I	.|ENSP00000370316:V122I	R|V	-|-	2|1	0|0	GPR143|GPR143	9688813|9688813	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	1.998000|1.998000	0.40796|0.40796	-0.664000|-0.664000	0.05324|0.05324	-1.514000|-1.514000	0.00941|0.00941	CGT|GTC	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like		0.483	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	protein_coding	OTTHUMT00000055714.2	C	NM_000273	-		9728813	-1	no_errors	ENST00000380929	ensembl	human	known	74_37	missense	SNP	0.612	T	T	9728813	C	T	9728813	3	4	171	1	0	0	0	0	1	0	0	0	6653	536	19	1	942	1	GPR143	23	9728813	Missense_Mutation	SNP	C	TCGA-K1-A6RT-01A-32D-A33E-09		9728813	145541747	49	12069											
ZNF674	641339	genome.wustl.edu	37	chrX	46360436	46360436	+	Frame_Shift_Del	DEL	A	A	-													ttccctcgttgattagggtcAaaaaatctctctgcaggttg							TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chrX:46360436delA	ENST00000523374.1	-	6	798	c.588delT	c.(586-588)tttfs	p.F196fs	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Frame_Shift_Del_p.F190fs	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	196					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(2)	2						GATTAGGGTCAAAAAATCTCT	0.393																																																	0								ENSG00000251192						34	29	30					X																	46360436		1884	4092	5976	ZNF674	SO:0001589	frameshift_variant	0				HGNC	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"Zinc fingers, C2H2-type", "-"	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.588delT	X.37:g.46360436delA	ENSP00000429148:p.Phe196fs	Somatic	0	11	0		0.400331380533959	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B4DHE2|E9PHQ4	Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F196fs	ENST00000523374.1	37	c.588	CCDS48099.1	X																																																																																			-	NULL		0.393	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	protein_coding	OTTHUMT00000056357.2	A	NM_001039891			46360436	-1	no_errors	ENST00000523374	ensembl	human	known	74_37	frame_shift_del	DEL	0.054	-	-	46360436	A	-	46360436	7	5	171	1	0	1	0	1	0	0	0	0	18088	127	5	0	1161	0	ZNF674	23	46360436	Frame_Shift_Del	DEL	A	TCGA-K1-A6RT-01A-32D-A33E-09	36631623	46360436	108910124	50	12070											
AFF2	2334	genome.wustl.edu	37	chrX	148038143	148038143	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggcaaacgtaagcacaaGgtaagctgtctaaagtggcc	12	8	1	0			TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chrX:148038143G>T	ENST00000370460.2	+	11	3047	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	AFF2_ENST00000342251.3_Splice_Site_p.K823N|AFF2_ENST00000286437.5_Splice_Site_p.K497N|AFF2_ENST00000370457.5_Splice_Site_p.K823N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	856					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)			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)					GTAAGCACAAGGTAAGCTGTC	0.517																																																	0								ENSG00000155966						59	58	58					X																	148038143		2203	4300	6503	AFF2	SO:0001630	splice_region_variant	0			-	HGNC	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.2568+1G>T	X.37:g.148038143G>T		Somatic	0	35	0		0.400331380533959	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.K856N	ENST00000370460.2	37	c.2568	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917745	0.73098	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	M	0.81942	2.565	0.80722	D	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	D	0.86981	0.2104	10	0.72032	D	0.01	.	19.1236	0.93374	0.0:0.0:1.0:0.0	.	497;821;823;817;846;856	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	856;823;823;497	ENSP00000359489:K856N;ENSP00000359486:K823N;ENSP00000345459:K823N;ENSP00000286437:K497N	ENSP00000286437:K497N	K	+	3	2	AFF2	147845843	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	8.223000	0.89779	2.467000	0.83353	0.600000	0.82982	AAG	-	pfam_TF_AF4/FMR2		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	-	Missense_Mutation	148038143	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148038143	G	T	148038143	5	4	171	1	0	0	0	0	0	0	1	0	357	1014	35	3	2665	3	AFF2	23	148038143	Splice_Site	SNP	G	TCGA-K1-A6RT-01A-32D-A33E-09	101677707	148038143	7232417	51	12071											
VMA21	203547	genome.wustl.edu	37	chrX	150565816	150565816	+	Frame_Shift_Del	DEL	G	G	-													aaggcggcgctgaacgcactGcagcctcctgagttcaggta							TCGA-K1-A6RT-01A-32D-A33E-09	TCGA-K1-A6RT-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8c3144-ea5e-4383-9875-36d81b7fec6f	1fa603b9-e9b3-4f9d-b3fc-688e7b46617d	g.chrX:150565816delG	ENST00000330374.6	+	1	141	c.36delG	c.(34-36)ctgfs	p.L12fs	VMA21_ENST00000477649.1_Intron|VMA21_ENST00000370361.1_Intron	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TGAACGCACTGCAGCCTCCTG	0.711																																																	0								ENSG00000160131						5	4	4					X																	150565816		1889	3592	5481	VMA21	SO:0001589	frameshift_variant	0				HGNC	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"myopathy with excessive autophagy"	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.36delG	X.37:g.150565816delG	ENSP00000333255:p.Leu12fs	Somatic	0	11	0		0.400331380533959	80	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53		Frame_Shift_Del	DEL							pfam_VMA21-like_domain	p.Q13fs	ENST00000330374.6	37	c.36	CCDS35430.1	X																																																																																			-	NULL		0.711	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMA21	protein_coding	OTTHUMT00000060876.1	G	NM_001017980			150565816	1	no_errors	ENST00000330374	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	150565816	G	-	150565816	7	5	171	1	0	1	0	1	0	0	0	0	17182	1306	46	0	38	0	VMA21	23	150565816	Frame_Shift_Del	DEL	G	TCGA-K1-A6RT-01A-32D-A33E-09	2527673	150565816	4704744	52	12072											
YRDC	79693	genome.wustl.edu	37	chr1	38269624	38269624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggacgcatgtgaggggagCagtccgtacttctgttggag	16	7	1	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:38269624C>A	ENST00000373044.2	-	5	817	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	271					negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGAGGGGAGCAGTCCGTACT	0.547																																																	0								ENSG00000196449						157	123	135					1																	38269624		2203	4300	6503	YRDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"ischemia/reperfusion inducible protein"	612276	"yrdC domain containing (E.coli)", "yrdC domain containing (E. coli)"			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.813G>T	1.37:g.38269624C>A		Somatic	0	88	0		0.511914430343057	95	26.36	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51	Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Silent	SNP							pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom	p.L271	ENST00000373044.2	37	c.813	CCDS30675.1	1																																																																																			-	NULL		0.547	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YRDC	protein_coding	OTTHUMT00000012470.1	C	NM_024640	-		38269624	-1	no_errors	ENST00000373044	ensembl	human	known	74_37	silent	SNP	0.132	A	A	38269624	C	A	38269624	2	1	172	1	0	0	0	0	0	0	0	1	17501	697	25	3		3	YRDC	1	38269624	Silent	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09		38269624	210980997	1	12073											
C8A	731	genome.wustl.edu	37	chr1	57378074	57378074	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttctttctgtgcccacAgatgcagcctatccacgagg	10	12	2	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:57378074A>G	ENST00000361249.3	+	10	1476		c.e10-1			NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGTGCCCACAGATGCAGCCT	0.612																																																	0								ENSG00000157131						32	34	33					1																	57378074		2203	4299	6502	C8A	SO:0001630	splice_region_variant	0			-	HGNC	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1381-1A>G	1.37:g.57378074A>G		Somatic	0	53	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35	A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP							-	e10-2	ENST00000361249.3	37	c.1381-2	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310129	0.40895	.	.	ENSG00000157131	ENST00000361249	.	.	.	5.55	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0621	0.42282	0.9239:0.0:0.0761:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8A	57150662	1.000000	0.71417	0.118000	0.21660	0.040000	0.13550	6.381000	0.73163	0.941000	0.37499	0.533000	0.62120	.	-	-		0.612	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	protein_coding	OTTHUMT00000022890.1	A	NM_000562	-	Intron	57378074	1	no_errors	ENST00000361249	ensembl	human	known	74_37	splice_site	SNP	0.910	G	G	57378074	A	G	57378074	5	3	172	1	0	0	0	0	0	0	1	0	2418	202	7	5	1417	5	C8A	1	57378074	Splice_Site	SNP	A	TCGA-K1-A6RU-01A-11D-A32I-09	19108450	57378074	191872547	2	12074											
HOOK1	51361	genome.wustl.edu	37	chr1	60333955	60333955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggatcccaagttaaatccaGcatcagctgaaataatgcta	7	9	1	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:60333955G>C	ENST00000371208.3	+	20	2136	c.1879G>C	c.(1879-1881)Gca>Cca	p.A627P	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.A585P	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	627					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GTTAAATCCAGCATCAGCTGA	0.279																																																	0								ENSG00000134709						51	58	56					1																	60333955		2203	4299	6502	HOOK1	SO:0001583	missense	0			-	HGNC	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1879G>C	1.37:g.60333955G>C	ENSP00000360252:p.Ala627Pro	Somatic	0	126	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	58	30.59	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP							pfam_Hook-related_fam,superfamily_Prefoldin	p.A627P	ENST00000371208.3	37	c.1879	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703884	0.68501	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.24151	1.87;1.87	5.99	5.99	0.97316	.	0.046583	0.85682	D	0.000000	T	0.26738	0.0654	L	0.39898	1.24	0.80722	D	1	B	0.18013	0.025	B	0.20384	0.029	T	0.02698	-1.1122	10	0.27785	T	0.31	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	627	Q9UJC3	HOOK1_HUMAN	P	627;585	ENSP00000360252:A627P;ENSP00000378928:A585P	ENSP00000360252:A627P	A	+	1	0	HOOK1	60106543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.017000	0.76399	2.840000	0.97914	0.655000	0.94253	GCA	-	pfam_Hook-related_fam		0.279	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	protein_coding	OTTHUMT00000024934.1	G	NM_015888	-		60333955	1	no_errors	ENST00000371208	ensembl	human	known	74_37	missense	SNP	1.000	C	C	60333955	G	C	60333955	3	2	172	1	0	0	0	0	1	0	0	0	7284	971	34	4	1957	4	HOOK1	1	60333955	Missense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	2955881	60333955	188916666	3	12075											
LPHN2	23266	genome.wustl.edu	37	chr1	82402483	82402483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatccatgtcctggaacatAcaaataccttgaagtccaat	6	10	0	2			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:82402483A>G	ENST00000370728.1	+	7	1004	c.359A>G	c.(358-360)tAc>tGc	p.Y120C	LPHN2_ENST00000370713.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y120C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y120C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y120C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y120C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y120C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y120C			O95490	LPHN2_HUMAN	latrophilin 2	120	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCTGGAACATACAAATACCTT	0.368																																																	0								ENSG00000117114						212	198	203					1																	82402483		2203	4300	6503	LPHN2	SO:0001583	missense	0			-	HGNC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.359A>G	1.37:g.82402483A>G	ENSP00000359763:p.Tyr120Cys	Somatic	0	66	0		0.511914430343057	20	35.48	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP							pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.Y120C	ENST00000370728.1	37	c.359		1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770993	0.69992	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;1.0;0.992;0.999	T	0.62296	-0.6884	10	0.87932	D	0	.	16.3245	0.82970	1.0:0.0:0.0:0.0	.	120;120;120;120	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	C	120	ENSP00000359756:Y120C;ENSP00000359763:Y120C;ENSP00000359765:Y120C;ENSP00000359762:Y120C;ENSP00000359760:Y120C;ENSP00000359758:Y120C;ENSP00000353006:Y120C;ENSP00000359750:Y120C;ENSP00000359748:Y120C;ENSP00000322270:Y120C;ENSP00000359752:Y120C;ENSP00000378344:Y120C;ENSP00000271029:Y120C;ENSP00000337306:Y120C	ENSP00000271029:Y120C	Y	+	2	0	LPHN2	82175071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.254000	0.74563	0.460000	0.39030	TAC	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.368	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	A	NM_012302	-		82402483	1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	SNP	1.000	G	G	82402483	A	G	82402483	3	3	172	1	0	0	0	0	1	0	0	0	8918	391	14	5	369	5	LPHN2	1	82402483	Missense_Mutation	SNP	A	TCGA-K1-A6RU-01A-11D-A32I-09	22068528	82402483	166848138	4	12076											
RALGPS2	55103	genome.wustl.edu	37	chr1	178854229	178854229	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtcctgaagtaggagcgtCtccacagagtggacgaaaaa	13	8	1	2			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:178854229C>G	ENST00000367635.3	+	12	1261	c.923C>G	c.(922-924)tCt>tGt	p.S308C	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S308C|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	308					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTAGGAGCGTCTCCACAGAGT	0.428																																																	0								ENSG00000116191						65	67	66					1																	178854229		2203	4300	6503	RALGPS2	SO:0001583	missense	0			-	HGNC	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.923C>G	1.37:g.178854229C>G	ENSP00000356607:p.Ser308Cys	Somatic	0	82	0		0.511914430343057	14	17.65	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	76	10.59	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP							pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.S308C	ENST00000367635.3	37	c.923	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402692	0.62288	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.44083	0.93;0.93;0.93	5.62	5.62	0.85841	.	0.731376	0.13484	N	0.384425	T	0.61788	0.2375	M	0.63843	1.955	0.80722	D	1	B;D	0.64830	0.064;0.994	B;P	0.58928	0.016;0.848	T	0.61387	-0.7073	10	0.66056	D	0.02	.	19.2628	0.93974	0.0:1.0:0.0:0.0	.	308;308	B7Z7B1;Q86X27	.;RGPS2_HUMAN	C	308;308;273	ENSP00000356607:S308C;ENSP00000356606:S308C;ENSP00000313613:S273C	ENSP00000313613:S273C	S	+	2	0	RALGPS2	177120852	1.000000	0.71417	0.980000	0.43619	0.249000	0.25844	7.128000	0.77217	2.659000	0.90383	0.585000	0.79938	TCT	-	NULL		0.428	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	protein_coding	OTTHUMT00000084926.2	C	NM_152663	-		178854229	1	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178854229	C	G	178854229	3	3	172	1	0	0	0	0	1	0	0	0	13026	913	32	4	965	4	RALGPS2	1	178854229	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	96451746	178854229	70396392	5	12077											
CFH	3075	genome.wustl.edu	37	chr1	196709781	196709781	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatctccacctgagatttctCatggtgttgtagctcacatg	8	10	3	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:196709781C>T	ENST00000367429.4	+	18	3055	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	939	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAGATTTCTCATGGTGTTGT	0.338																																																	0								ENSG00000000971						123	120	121					1																	196709781		2203	4300	6503	CFH	SO:0001583	missense	0			-	HGNC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2815C>T	1.37:g.196709781C>T	ENSP00000356399:p.His939Tyr	Somatic	0	64	0		0.511914430343057	181	11.27	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	57	9.52	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H939Y	ENST00000367429.4	37	c.2815	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	9.290	1.050348	0.19827	.	.	ENSG00000000971	ENST00000367429	T	0.66638	-0.22	6.16	-12.3	0.00002	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56217	0.1970	L	0.60904	1.88	0.09310	N	0.999998	B	0.18741	0.03	B	0.14578	0.011	T	0.49679	-0.8914	9	0.52906	T	0.07	.	14.1597	0.65438	0.1794:0.6764:0.0:0.1442	.	939	P08603	CFAH_HUMAN	Y	939	ENSP00000356399:H939Y	ENSP00000356399:H939Y	H	+	1	0	CFH	194976404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.376000	0.02561	-2.527000	0.00494	-0.840000	0.03056	CAT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	protein_coding	OTTHUMT00000086412.2	C	NM_000186	-		196709781	1	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	SNP	0.000	T	T	196709781	C	T	196709781	3	4	172	1	0	0	0	0	1	0	0	0	3285	826	29	2	2903	2	CFH	1	196709781	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	17855552	196709781	52540840	6	12078											
PRELP	5549	genome.wustl.edu	37	chr1	203455946	203455946	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggctggatggaaactacttGaagccgcccatcccgctgga	12	13	0	1	rs202213609		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:203455946G>T	ENST00000343110.2	+	3	1213	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	362					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)			GAAACTACTTGAAGCCGCCCA	0.607																																																	0								ENSG00000188783						94	75	81					1																	203455946		2203	4300	6503	PRELP	SO:0001583	missense	0			-	HGNC	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.1086G>T	1.37:g.203455946G>T	ENSP00000343924:p.Leu362Phe	Somatic	0	35	0		0.511914430343057	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	Q6FG38	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L362F	ENST00000343110.2	37	c.1086	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771805	0.69992	.	.	ENSG00000188783	ENST00000343110	T	0.05786	3.39	5.46	3.48	0.39840	.	0.283230	0.28760	N	0.014234	T	0.15739	0.0379	L	0.55481	1.735	0.49213	D	0.999763	D	0.63880	0.993	D	0.63283	0.913	T	0.00544	-1.1679	10	0.62326	D	0.03	-28.1293	9.4206	0.38548	0.0795:0.1447:0.7758:0.0	.	362	P51888	PRELP_HUMAN	F	362	ENSP00000343924:L362F	ENSP00000343924:L362F	L	+	3	2	PRELP	201722569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.918000	0.28678	1.302000	0.44855	0.561000	0.74099	TTG	-	NULL		0.607	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	protein_coding	OTTHUMT00000087474.1	G	NM_002725	-		203455946	1	no_errors	ENST00000343110	ensembl	human	known	74_37	missense	SNP	0.998	T	T	203455946	G	T	203455946	3	4	172	1	0	0	0	0	1	0	0	0	12478	1281	45	3	1092	3	PRELP	1	203455946	Missense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	6746165	203455946	45794675	7	12079											
TBCE	6905	genome.wustl.edu	37	chr1	235577820	235577820	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gactttcttactgcaattaaGaaccgctatgtgttagaaga	8	7	1	3			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr1:235577820G>A	ENST00000366601.3	+	4	434	c.258G>A	c.(256-258)aaG>aaA	p.K86K	TBCE_ENST00000406207.1_Silent_p.K86K|TBCE_ENST00000543662.1_Silent_p.K86K|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	86					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CTGCAATTAAGAACCGCTATG	0.393																																																	0								ENSG00000116957						111	113	112					1																	235577820		2203	4300	6503	TBCE	SO:0001819	synonymous_variant	0			-	HGNC	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.258G>A	1.37:g.235577820G>A		Somatic	0	70	0		0.511914430343057	63	7.35	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	A8K8C2|B7Z3P1	Silent	SNP							pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K86	ENST00000366601.3	37	c.258	CCDS1605.1	1																																																																																			-	superfamily_CAP-Gly_domain		0.393	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	protein_coding	OTTHUMT00000096458.3	G	NM_003193	-		235577820	1	no_errors	ENST00000543662	ensembl	human	known	74_37	silent	SNP	0.994	A	A	235577820	G	A	235577820	2	1	172	1	0	0	0	0	0	0	0	1	15641	933	33	2		2	TBCE	1	235577820	Silent	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	32121874	235577820	13672801	8	12080											
XPO1	7514	genome.wustl.edu	37	chr2	61726902	61726902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccactagagaaatcaAatacttcttcactcaagagt	5	10	5	2			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr2:61726902A>G	ENST00000401558.2	-	7	1263	c.536T>C	c.(535-537)tTt>tCt	p.F179S	XPO1_ENST00000406957.1_Missense_Mutation_p.F179S|XPO1_ENST00000404992.2_Missense_Mutation_p.F179S	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	179	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGAGAAATCAAATACTTCTTC	0.328			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0								ENSG00000082898						73	76	75					2																	61726902		2203	4300	6503	XPO1	SO:0001583	missense	0			-	HGNC	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.536T>C	2.37:g.61726902A>G	ENSP00000384863:p.Phe179Ser	Somatic	0	63	0		0.511914430343057	29	58.57	41	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP							pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F179S	ENST00000401558.2	37	c.536	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795393	0.90453	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957;ENST00000451765	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.95	4.8	0.61643	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.85616	0.1261	10	0.56958	D	0.05	-20.207	12.0134	0.53301	0.9327:0.0:0.0673:0.0	.	179	O14980	XPO1_HUMAN	S	179	ENSP00000384863:F179S;ENSP00000385942:F179S;ENSP00000385559:F179S;ENSP00000413853:F179S	ENSP00000384863:F179S	F	-	2	0	XPO1	61580406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.324000	0.96373	1.073000	0.40885	0.533000	0.62120	TTT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.328	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	protein_coding	OTTHUMT00000325872.3	A	NM_003400	-		61726902	-1	no_errors	ENST00000401558	ensembl	human	known	74_37	missense	SNP	1.000	G	G	61726902	A	G	61726902	3	3	172	1	0	0	0	0	1	0	0	0	17452	14	1	5	2755	5	XPO1	2	61726902	Missense_Mutation	SNP	A	TCGA-K1-A6RU-01A-11D-A32I-09		61726902	181472471	9	12081											
ANAPC1	64682	genome.wustl.edu	37	chr2	112615924	112615924	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actaaaaagcacaggaacttTtgcccacataggtcagatgt	8	9	1	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr2:112615924T>A	ENST00000341068.3	-	11	2089	c.1317A>T	c.(1315-1317)caA>caT	p.Q439H		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	439					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACAGGAACTTTTGCCCACATA	0.363																																																	0								ENSG00000153107						101	94	96					2																	112615924		2203	4300	6503	ANAPC1	SO:0001583	missense	0			-	HGNC	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1317A>T	2.37:g.112615924T>A	ENSP00000339109:p.Gln439His	Somatic	0	257	0		0.511914430343057	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	93	22.95	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP							NULL	p.Q439H	ENST00000341068.3	37	c.1317	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	t	16.74	3.207984	0.58343	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.99	-9.15	0.00698	.	0.557375	0.12906	U	0.429366	T	0.50548	0.1622	M	0.71206	2.165	0.42024	D	0.990992	P	0.39964	0.697	B	0.38562	0.276	T	0.65117	-0.6246	9	0.66056	D	0.02	-6.2141	14.0952	0.65016	0.075:0.7671:0.0:0.1578	.	439	Q9H1A4	APC1_HUMAN	H	439	.	ENSP00000339109:Q439H	Q	-	3	2	ANAPC1	112332395	0.002000	0.14202	0.651000	0.29564	0.633000	0.38033	-2.177000	0.01261	-1.897000	0.01101	-1.243000	0.01532	CAA	-	NULL		0.363	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	protein_coding	OTTHUMT00000254045.2	T	NM_022662	-		112615924	-1	no_errors	ENST00000341068	ensembl	human	known	74_37	missense	SNP	0.748	A	A	112615924	T	A	112615924	3	1	172	1	0	0	0	0	1	0	0	0	598	1838	64	5	4669	5	ANAPC1	2	112615924	Missense_Mutation	SNP	T	TCGA-K1-A6RU-01A-11D-A32I-09	50889022	112615924	130583449	10	12082											
THSD7B	80731	genome.wustl.edu	37	chr2	137814609	137814609	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatggagtaaatgcagactGcctcatcttaaagaaattaa	7	8	2	2			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr2:137814609G>T	ENST00000409968.1	+	3	937	c.759G>T	c.(757-759)ctG>ctT	p.L253L	THSD7B_ENST00000543459.1_Silent_p.L112L|THSD7B_ENST00000272643.3_Silent_p.L253L|THSD7B_ENST00000413152.2_Silent_p.L222L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	253						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGCAGACTGCCTCATCTTA	0.413																																																	0								ENSG00000144229						145	142	143					2																	137814609		1876	4118	5994	THSD7B	SO:0001819	synonymous_variant	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.759G>T	2.37:g.137814609G>T		Somatic	0	75	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.00		Silent	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L253	ENST00000409968.1	37	c.759		2																																																																																			-	NULL		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9	-		137814609	1	no_errors	ENST00000272643	ensembl	human	known	74_37	silent	SNP	0.998	T	T	137814609	G	T	137814609	2	4	172	1	0	0	0	0	0	0	0	1	15887	1306	46	3		3	THSD7B	2	137814609	Silent	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	25198685	137814609	105384764	11	12083											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209141504	209141504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgttcagcttcgaagcCtcagcacagtattaaaacgc	8	12	2	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr2:209141504C>T	ENST00000264380.4	+	4	549	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.L131F|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000392202.3_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	131					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCTTCGAAGCCTCAGCACAGT	0.443																																																	0								ENSG00000115020						81	80	80					2																	209141504		2203	4300	6503	PIKFYVE	SO:0001583	missense	0			-	HGNC	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.391C>T	2.37:g.209141504C>T	ENSP00000264380:p.Leu131Phe	Somatic	0	71	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP							pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.L131F	ENST00000264380.4	37	c.391	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155167	0.78114	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.68765	1.32;-0.35;-0.3;1.49	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.68072	0.2961	N	0.19112	0.55	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.995	D;D;D	0.78314	0.991;0.991;0.969	T	0.63594	-0.6602	10	0.22109	T	0.4	-12.2264	13.3259	0.60459	0.0:0.9279:0.0:0.0721	.	131;131;131	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	F	131;131;143;131	ENSP00000264380:L131F;ENSP00000384356:L131F;ENSP00000414477:L143F;ENSP00000405736:L131F	ENSP00000264380:L131F	L	+	1	0	PIKFYVE	208849749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.105000	0.57797	2.762000	0.94881	0.655000	0.94253	CTC	-	NULL		0.443	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	protein_coding	OTTHUMT00000256477.2	C	NM_015040	-		209141504	1	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	SNP	1.000	T	T	209141504	C	T	209141504	3	4	172	1	0	0	0	0	1	0	0	0	11926	681	24	2	401	2	PIKFYVE	2	209141504	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	71326895	209141504	34057869	12	12084											
SLC4A3	6508	genome.wustl.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct					rs557843124	byFrequency	TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0	0.0058	5008	,	,		20005	0.001		0	False		,,,				2504	0																0								ENSG00000114923		,	46,4208		1,44,2082					,	3.4	1			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SLC4A3	SO:0001651	inframe_deletion	0				HGNC		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.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del	Somatic	0	74	0		0.511914430343057	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.K338in_frame_del	ENST00000358055.3	37	c.1002_1004	CCDS2445.1	2																																																																																			-	NULL		0.65	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	GAA	NM_005070			220496801	1	no_errors	ENST00000273063	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000	-	-	220496801	GAA	-	220496799	7	5	172	1	0	1	0	1	0	0	0	0	14663	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-K1-A6RU-01A-11D-A32I-09	11355295	220496799	22702574	13	12085											
IRS1	3667	genome.wustl.edu	37	chr2	227662246	227662246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggaagagacaatccgaGgtggagccatggccactggt	16	9	0	1	rs529655323		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr2:227662246G>A	ENST00000305123.5	-	1	2229	c.1209C>T	c.(1207-1209)acC>acT	p.T403T	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	403	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T403T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GACAATCCGAGGTGGAGCCAT	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0.0014	5008	,	,		16128	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	kidney(1)						ENSG00000169047						64	68	67					2																	227662246		2203	4300	6503	IRS1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1209C>T	2.37:g.227662246G>A		Somatic	0	69	0	2321	0.511914430343057	10	41.18	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16		Silent	SNP							pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.T403	ENST00000305123.5	37	c.1209	CCDS2463.1	2																																																																																			-	NULL		0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	protein_coding	OTTHUMT00000256886.3	G	NM_005544	-		227662246	-1	no_errors	ENST00000305123	ensembl	human	known	74_37	silent	SNP	0.797	A	A	227662246	G	A	227662246	2	1	172	1	0	0	0	0	0	0	0	1	7842	987	35	2		2	IRS1	2	227662246	Silent	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	7165447	227662246	15537127	14	12086											
KIAA1407	57577	genome.wustl.edu	37	chr3	113697719	113697719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctgtagccagctctGgatgactctcttaagcagta	8	12	2	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr3:113697719G>T	ENST00000295878.3	-	15	2592	c.2446C>A	c.(2446-2448)Cag>Aag	p.Q816K	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	816										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCCAGCTCTGGATGACTCTC	0.423																																																	0								ENSG00000163617						197	193	194					3																	113697719		2203	4300	6503	KIAA1407	SO:0001583	missense	0			-	HGNC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2446C>A	3.37:g.113697719G>T	ENSP00000295878:p.Gln816Lys	Somatic	0	61	0		0.511914430343057	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B4DYL1|Q9P2E0	Missense_Mutation	SNP							NULL	p.Q816K	ENST00000295878.3	37	c.2446	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	G	4.147	0.025686	0.08054	.	.	ENSG00000163617	ENST00000295878	T	0.29397	1.57	5.38	-5.88	0.02290	.	0.839450	0.10954	N	0.615785	T	0.08582	0.0213	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18713	-1.0328	10	0.36615	T	0.2	.	0.0161	0.00002	0.2886:0.1939:0.2243:0.2931	.	816	Q8NCU4	K1407_HUMAN	K	816	ENSP00000295878:Q816K	ENSP00000295878:Q816K	Q	-	1	0	KIAA1407	115180409	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	-0.465000	0.06680	-0.796000	0.04456	-1.098000	0.02139	CAG	-	NULL		0.423	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	protein_coding	OTTHUMT00000354724.2	G	NM_020817	-		113697719	-1	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	SNP	0.000	T	T	113697719	G	T	113697719	3	4	172	1	0	0	0	0	1	0	0	0	8231	1357	47	3	376	3	KIAA1407	3	113697719	Missense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09		113697719	84324711	15	12087											
UGT8	7368	genome.wustl.edu	37	chr4	115585186	115585186	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatggtgctaatgaacaTggctttgtcttggtgtcttt	11	5	2	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr4:115585186T>C	ENST00000310836.6	+	3	1380	c.858T>C	c.(856-858)caT>caC	p.H286H	UGT8_ENST00000394511.3_Silent_p.H286H	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	286					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CTAATGAACATGGCTTTGTCT	0.398																																																	0								ENSG00000174607						184	168	174					4																	115585186		2203	4300	6503	UGT8	SO:0001819	synonymous_variant	0			-	HGNC	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.858T>C	4.37:g.115585186T>C		Somatic	0	71	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	B3KXU7|O00196	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H286	ENST00000310836.6	37	c.858	CCDS3705.1	4																																																																																			-	pfam_UDP_glucos_trans		0.398	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	protein_coding	OTTHUMT00000256426.2	T	NM_003360	-		115585186	1	no_errors	ENST00000310836	ensembl	human	known	74_37	silent	SNP	0.978	C	C	115585186	T	C	115585186	2	2	172	1	0	0	0	0	0	0	0	1	16972	1461	51	5		5	UGT8	4	115585186	Silent	SNP	T	TCGA-K1-A6RU-01A-11D-A32I-09		115585186	75569090	16	12088											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41017989	41017989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatagttgagctagcagcCgcctgacggatggtgggcag	15	10	0	2	rs371233888		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr5:41017989C>T	ENST00000399564.4	-	28	3297	c.2847G>A	c.(2845-2847)gcG>gcA	p.A949A	MROH2B_ENST00000506092.2_Silent_p.A504A	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	949																	AGCTAGCAGCCGCCTGACGGA	0.468																																																	0								ENSG00000171495	C		0,3806		0,0,1903	35	36	36		2847	-9.1	0.3	5		36	2,8246		0,2,4122	no	coding-synonymous	HEATR7B2	NM_173489.4		0,2,6025	TT,TC,CC		0.0242,0.0,0.0166		949/1586	41017989	2,12052	1903	4124	6027	MROH2B	SO:0001819	synonymous_variant	0			-	HGNC		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.2847G>A	5.37:g.41017989C>T		Somatic	0	65	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.54	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP							superfamily_ARM-type_fold	p.A949	ENST00000399564.4	37	c.2847	CCDS47202.1	5																																																																																			-	superfamily_ARM-type_fold		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	C	NM_173489	-		41017989	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	silent	SNP	0.371	T	T	41017989	C	T	41017989	2	4	172	1	0	0	0	0	0	0	0	1	7037	639	23	1		1	HEATR7B2	5	41017989	Silent	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09		41017989	139897271	17	12089											
FLT4	2324	genome.wustl.edu	37	chr5	180047285	180047285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgatggacaggtagccCgtcttgatgtctgcgtgggc	15	8	2	3	rs143907746		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr5:180047285C>T	ENST00000261937.6	-	17	2508	c.2430G>A	c.(2428-2430)acG>acA	p.T810T	FLT4_ENST00000502649.1_Silent_p.T810T|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000393347.3_Silent_p.T810T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	810					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|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)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGGTAGCCCGTCTTGATGT	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		16295	0		0	False		,,,				2504	0				Colon(97;1075 1466 27033 27547 35871)												0								ENSG00000037280	C	,	3,4403	8.1+/-20.4	0,3,2200	74	81	79		2430,2430	-8.3	0.6	5	dbSNP_134	79	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	FLT4	NM_002020.4,NM_182925.4	,	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	,	810/1299,810/1364	180047285	3,13001	2203	4299	6502	FLT4	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2430G>A	5.37:g.180047285C>T		Somatic	0	102	0		0.511914430343057	68	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	48	12.73	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.T810	ENST00000261937.6	37	c.2430	CCDS4457.1	5																																																																																			-	superfamily_Kinase-like_dom		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	C		rs143907746		180047285	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	silent	SNP	0.029	T	T	180047285	C	T	180047285	2	4	172	1	0	0	0	0	0	0	0	1	5946	639	23	1		1	FLT4	5	180047285	Silent	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	139029296	180047285	867975	18	12090											
LYNX1	66004	genome.wustl.edu	37	chr8	143846101	143846101	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctggggatatcgggGcagcctatgtggcacatctt	14	11	1	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr8:143846101G>T	ENST00000335822.5	-	5	945	c.318C>A	c.(316-318)tgC>tgA	p.C106*	LYNX1_ENST00000523332.1_Intron|RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000317543.7_Nonsense_Mutation_p.C72*	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	106	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGATATCGGGGCAGCCTATGT	0.627																																																	0								ENSG00000180155						95	92	93					8																	143846101		2203	4300	6503	LYNX1	SO:0001587	stop_gained	0			-	HGNC	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.318C>A	8.37:g.143846101G>T	ENSP00000337950:p.Cys106*	Somatic	0	147	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	68	28.42	D3DWI7|G3XAC2|Q86SR0	Nonsense_Mutation	SNP							pfam_LY6_UPAR	p.C106*	ENST00000335822.5	37	c.318	CCDS34951.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.407309	0.96051	.	.	ENSG00000180155	ENST00000317543;ENST00000335822	.	.	.	3.18	-0.295	0.12828	.	0.159383	0.43260	D	0.000592	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0198	5.834	0.18597	0.4676:0.0:0.5324:0.0	.	.	.	.	X	72;106	.	ENSP00000319846:C72X	C	-	3	2	LYNX1	143843103	0.993000	0.37304	0.920000	0.36463	0.117000	0.20001	0.132000	0.15891	-0.058000	0.13177	-0.481000	0.04817	TGC	-	pfam_LY6_UPAR		0.627	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	protein_coding	OTTHUMT00000379786.3	G	NM_177476	-		143846101	-1	no_errors	ENST00000335822	ensembl	human	known	74_37	nonsense	SNP	0.923	T	T	143846101	G	T	143846101	4	4	172	1	0	0	0	0	0	1	0	0	9110	1195	42	3	81	3	LYNX1	8	143846101	Nonsense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09		143846101	2517921	19	12091											
TOLLIP	54472	genome.wustl.edu	37	chr11	1307270	1307270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacgccctgctggtacactGttggcatcaggaccacgggc	12	14	1	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr11:1307270G>T	ENST00000317204.6	-	5	695	c.572C>A	c.(571-573)aCa>aAa	p.T191K	TOLLIP_ENST00000527886.1_Missense_Mutation_p.T122K|TOLLIP_ENST00000528719.1_5'Flank|TOLLIP_ENST00000525159.1_Missense_Mutation_p.T130K|TOLLIP_ENST00000263646.7_Missense_Mutation_p.T163K|TOLLIP_ENST00000542915.1_Missense_Mutation_p.T141K|TOLLIP_ENST00000527938.1_Intron	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	191					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CTGGTACACTGTTGGCATCAG	0.632																																																	0								ENSG00000078902						128	93	105					11																	1307270		2197	4297	6494	TOLLIP	SO:0001583	missense	0			-	HGNC	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.572C>A	11.37:g.1307270G>T	ENSP00000314733:p.Thr191Lys	Somatic	0	22	0		0.511914430343057	136	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP							pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE	p.T191K	ENST00000317204.6	37	c.572	CCDS7723.1	11	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977595	0.53720	.	.	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	T;T;T;T;T;T	0.46063	0.94;0.9;0.95;0.91;0.91;0.88	5.08	4.17	0.49024	.	0.054891	0.64402	D	0.000001	T	0.38427	0.1040	M	0.61703	1.905	0.53005	D	0.999965	P;P;B	0.50710	0.938;0.717;0.138	B;B;B	0.42555	0.391;0.202;0.086	T	0.34453	-0.9828	10	0.08179	T	0.78	-39.6395	13.84	0.63432	0.0738:0.0:0.9262:0.0	.	130;141;191	F2Z2Y8;B3KR28;Q9H0E2	.;.;TOLIP_HUMAN	K	191;122;130;163;141;222;141	ENSP00000314733:T191K;ENSP00000434035:T122K;ENSP00000432668:T130K;ENSP00000263646:T163K;ENSP00000437404:T141K;ENSP00000434494:T141K	ENSP00000263646:T163K	T	-	2	0	TOLLIP	1263846	1.000000	0.71417	0.967000	0.41034	0.248000	0.25809	8.583000	0.90794	1.363000	0.46019	0.561000	0.74099	ACA	-	NULL		0.632	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TOLLIP	protein_coding	OTTHUMT00000257162.2	G	NM_019009	-		1307270	-1	no_errors	ENST00000317204	ensembl	human	known	74_37	missense	SNP	0.997	T	T	1307270	G	T	1307270	3	4	172	1	0	0	0	0	1	0	0	0	16357	1377	48	3	260	3	TOLLIP	11	1307270	Missense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09		1307270	133699246	20	12092											
MS4A14	84689	genome.wustl.edu	37	chr11	60165446	60165446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatatccattctggggagCacttattgtgagtactgtcg	12	7	1	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr11:60165446C>A	ENST00000300187.6	+	2	537	c.260C>A	c.(259-261)gCa>gAa	p.A87E	MS4A14_ENST00000531783.1_Missense_Mutation_p.A87E|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.A87E	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	87						integral component of membrane (GO:0016021)		p.A87E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTCTGGGGAGCACTTATTGTG	0.393																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000166928						112	114	113					11																	60165446		2203	4300	6503	MS4A14	SO:0001583	missense	0			-	HGNC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.260C>A	11.37:g.60165446C>A	ENSP00000300187:p.Ala87Glu	Somatic	0	41	0		0.511914430343057	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	4	80.95	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP							pfam_CD20-like	p.A87E	ENST00000300187.6	37	c.260	CCDS31569.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.713250|2.713250	0.48517|0.48517	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783|ENST00000534688	T;T;T;T|.	0.34859|.	4.06;1.34;4.06;4.06|.	5.03|5.03	4.05|4.05	0.47172|0.47172	.|.	0.508880|.	0.18162|.	N|.	0.149739|.	T|T	0.76962|0.76962	0.4061|0.4061	M|M	0.87547|0.87547	2.89|2.89	0.52099|0.52099	D|D	0.99994|0.99994	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.72982|.	0.964;0.979|.	T|T	0.78904|0.78904	-0.2020|-0.2020	10|5	0.87932|.	D|.	0|.	-10.245|-10.245	10.8753|10.8753	0.46906|0.46906	0.0:0.8098:0.1902:0.0|0.0:0.8098:0.1902:0.0	.|.	87;87|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	E|N	87|46	ENSP00000300187:A87E;ENSP00000378453:A87E;ENSP00000435764:A87E;ENSP00000433761:A87E|.	ENSP00000300187:A87E|.	A|H	+|+	2|1	0|0	MS4A14|MS4A14	59922022|59922022	0.816000|0.816000	0.29132|0.29132	0.664000|0.664000	0.29753|0.29753	0.343000|0.343000	0.28985|0.28985	1.166000|1.166000	0.31834|0.31834	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCA|CAC	-	pfam_CD20-like		0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	protein_coding	OTTHUMT00000395383.2	C		-		60165446	1	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	SNP	0.652	A	A	60165446	C	A	60165446	3	1	172	1	0	0	0	0	1	0	0	0	9860	710	25	3	266	3	MS4A14	11	60165446	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	58858176	60165446	74841070	21	12093											
SORL1	6653	genome.wustl.edu	37	chr11	121429444	121429444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtggatttactggacGgatgcctacctggagtgcat	13	9	0	0	rs370296806		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr11:121429444G>A	ENST00000260197.7	+	20	2937	c.2808G>A	c.(2806-2808)acG>acA	p.T936T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	936					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTACTGGACGGATGCCTACC	0.542																																																	0								ENSG00000137642	A		0,4406		0,0,2203	222	181	195		2808	-11.1	0	11		195	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SORL1	NM_003105.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		936/2215	121429444	1,13003	2203	4299	6502	SORL1	SO:0001819	synonymous_variant	0			-	HGNC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2808G>A	11.37:g.121429444G>A		Somatic	0	54	0		0.511914430343057	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B2RNX7|Q92856	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T936	ENST00000260197.7	37	c.2808	CCDS8436.1	11																																																																																			-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.542	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	protein_coding	OTTHUMT00000387626.2	G	NM_003105	-		121429444	1	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	SNP	0.005	A	A	121429444	G	A	121429444	2	1	172	1	0	0	0	0	0	0	0	1	14942	1103	39	1		1	SORL1	11	121429444	Silent	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	61263998	121429444	13577072	22	12094											
SLC25A3	5250	genome.wustl.edu	37	chr12	98987855	98987855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacctccgcagcagctcCccagggcccacgggccagcc	14	19	0	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr12:98987855C>T	ENST00000228318.3	+	2	219	c.99C>T	c.(97-99)tcC>tcT	p.S33S	SLC25A3_ENST00000551917.1_Silent_p.S33S|SLC25A3_ENST00000548847.1_Silent_p.S33S|SLC25A3_ENST00000551265.1_Silent_p.S33S|SLC25A3_ENST00000552981.1_Silent_p.S33S|SLC25A3_ENST00000401722.3_Silent_p.S33S|SLC25A3_ENST00000549338.1_Silent_p.S33S|SLC25A3_ENST00000547534.1_Silent_p.S33S|SLC25A3_ENST00000188376.5_Silent_p.S33S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	33					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCAGCAGCTCCCCAGGGCCCA	0.677																																																	0								ENSG00000075415						19	19	19					12																	98987855		2203	4297	6500	SLC25A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.99C>T	12.37:g.98987855C>T		Somatic	0	100	0		0.511914430343057	384	11.7	51	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	B3KS34|Q7Z7N7|Q96A03	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S33	ENST00000228318.3	37	c.99	CCDS9066.1	12																																																																																			-	NULL		0.677	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	protein_coding	OTTHUMT00000407989.1	C	NM_005888	-		98987855	1	no_errors	ENST00000228318	ensembl	human	known	74_37	silent	SNP	0.002	T	T	98987855	C	T	98987855	2	4	172	1	0	0	0	0	0	0	0	1	14501	610	22	2		2	SLC25A3	12	98987855	Silent	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09		98987855	34864040	23	12095											
SLC25A3	5250	genome.wustl.edu	37	chr12	98989563	98989563	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtgtggctttggtggggtCttaagttgtggtctgacaca	15	6	2	1	rs1063501		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr12:98989563C>A	ENST00000228318.3	+	3	402				SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000548847.1_Silent_p.V72V|SLC25A3_ENST00000552981.1_Silent_p.V72V|SLC25A3_ENST00000401722.3_Silent_p.V72V|SLC25A3_ENST00000549338.1_Silent_p.V72V|SLC25A3_ENST00000547534.1_Silent_p.V72V|SLC25A3_ENST00000188376.5_Silent_p.V72V	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3						generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TTGGTGGGGTCTTAAGTTGTG	0.418																																																	0								ENSG00000075415						212	201	205					12																	98989563		2203	4300	6503	SLC25A3	SO:0001627	intron_variant	0			-	HGNC		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.282+228C>A	12.37:g.98989563C>A		Somatic	0	72	0		0.511914430343057	631	12.21	88	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	B3KS34|Q7Z7N7|Q96A03	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.V72	ENST00000228318.3	37	c.216	CCDS9066.1	12																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.418	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	protein_coding	OTTHUMT00000407989.1	C	NM_005888	rs1063501		98989563	1	no_errors	ENST00000188376	ensembl	human	known	74_37	silent	SNP	1.000	A	A	98989563	C	A	98989563	1	1	172	0	1	0	0	0	0	0	0	0	14501	900	32	3		3	SLC25A3	12	98989563	Intron	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	1708	98989563	34862332	24	12096											
SELPLG	6404	genome.wustl.edu	37	chr12	109017341	109017341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtctgtgcctccgtgGctgtgggttgagtggtctgt	18	7	2	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr12:109017341G>A	ENST00000550948.1	-	2	967	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SELPLG_ENST00000228463.6_Missense_Mutation_p.A264V|SELPLG_ENST00000388962.3_Missense_Mutation_p.A238V			Q14242	SELPL_HUMAN	selectin P ligand	248	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCCTCCGTGGCTGTGGGTTG	0.607																																																	0								ENSG00000110876						176	147	157					12																	109017341		2203	4300	6503	SELPLG	SO:0001583	missense	0			-	HGNC		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.743C>T	12.37:g.109017341G>A	ENSP00000447752:p.Ala248Val	Somatic	0	97	0		0.511914430343057	142	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	73	16.09	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP							NULL	p.A248V	ENST00000550948.1	37	c.743	CCDS31895.2	12	.	.	.	.	.	.	.	.	.	.	G	12.97	2.095945	0.36952	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.15017	2.46;2.46;2.46	2.8	-3.7	0.04437	.	1.066990	0.07402	N	0.890940	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.17433	0.018;0.018;0.013	T	0.38156	-0.9674	10	0.34782	T	0.22	-2.2226	9.428	0.38592	0.5942:0.0:0.4058:0.0	.	264;248;208	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	V	238;248;264	ENSP00000373614:A238V;ENSP00000447752:A248V;ENSP00000228463:A264V	ENSP00000228463:A264V	A	-	2	0	SELPLG	107541470	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.058000	0.11750	-1.017000	0.03367	-0.229000	0.12294	GCC	-	NULL		0.607	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELPLG	protein_coding	OTTHUMT00000403904.1	G		-		109017341	-1	no_errors	ENST00000550948	ensembl	human	known	74_37	missense	SNP	0.000	A	A	109017341	G	A	109017341	3	1	172	1	0	0	0	0	1	0	0	0	14028	1203	42	2	499	2	SELPLG	12	109017341	Missense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	10027778	109017341	24834554	25	12097											
RB1	5925	genome.wustl.edu	37	chr13	48947579	48947579	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaattaatgatgatttTaaattcagcaagtgatcaac	5	7	2	3	rs587778845		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr13:48947579T>G	ENST00000267163.4	+	12	1304	c.1166T>G	c.(1165-1167)tTa>tGa	p.L389*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	389	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.L389*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATGATGATTTTAAATTCAGCA	0.289		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM071074	RB1	M		ENSG00000139687						106	113	111					13																	48947579		2202	4289	6491	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1166T>G	13.37:g.48947579T>G	ENSP00000267163:p.Leu389*	Somatic	0	38	0		0.511914430343057	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L389*	ENST00000267163.4	37	c.1166	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	T	38	7.183736	0.98121	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.675	0.77311	0.0:0.0:0.0:1.0	.	.	.	.	X	368;389	.	ENSP00000267163:L389X	L	+	2	0	RB1	47845580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.110000	0.64415	0.460000	0.39030	TTA	-	pfam_RB_A,superfamily_Cyclin-like		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	T		-		48947579	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	48947579	T	G	48947579	4	3	172	1	0	0	0	0	0	1	0	0	13106	1764	61	5	1212	5	RB1	13	48947579	Nonsense_Mutation	SNP	T	TCGA-K1-A6RU-01A-11D-A32I-09		48947579	66222299	26	12098											
MYCBP2	23077	genome.wustl.edu	37	chr13	77695586	77695586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcttgcactgagaaagGgcttggaggaggagtttgag	16	4	0	2			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr13:77695586G>T	ENST00000544440.2	-	55	7965	c.7948C>A	c.(7948-7950)Cct>Act	p.P2650T	MYCBP2_ENST00000360084.5_Missense_Mutation_p.P113T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2650T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.P2688T|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											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)		ACTGAGAAAGGGCTTGGAGGA	0.393																																																	0								ENSG00000005810						88	88	88					13																	77695586		2203	4300	6503	MYCBP2	SO:0001583	missense	0			-	HGNC	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.7948C>A	13.37:g.77695586G>T	ENSP00000444596:p.Pro2650Thr	Somatic	0	46	0		0.511914430343057	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33		Missense_Mutation	SNP							pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.P2688T	ENST00000544440.2	37	c.8062		13	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798179	0.70567	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.46063	1.65;1.65;1.65;0.88	5.6	5.6	0.85130	.	0.107089	0.64402	D	0.000003	T	0.53126	0.1777	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.987	T	0.44406	-0.9330	10	0.26408	T	0.33	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	2650;2650	O75592-2;O75592	.;MYCB2_HUMAN	T	2650;2688;2650;113	ENSP00000349892:P2650T;ENSP00000384288:P2688T;ENSP00000444596:P2650T;ENSP00000353197:P113T	ENSP00000349892:P2650T	P	-	1	0	MYCBP2	76593587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.455000	0.97625	2.616000	0.88540	0.655000	0.94253	CCT	-	superfamily_ARM-type_fold		0.393	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	G	NM_015057	-		77695586	-1	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77695586	G	T	77695586	3	4	172	1	0	0	0	0	1	0	0	0	10020	1232	43	3	6090	3	MYCBP2	13	77695586	Missense_Mutation	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	28748007	77695586	37474292	27	12099											
SHC4	399694	genome.wustl.edu	37	chr15	49127052	49127052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaggggatgttgcacTctctcgaaccaaaaagtccc	10	12	1	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr15:49127052T>A	ENST00000332408.4	-	11	2079	c.1651A>T	c.(1651-1653)Agt>Tgt	p.S551C	SHC4_ENST00000537958.1_Missense_Mutation_p.S265C|SHC4_ENST00000396535.3_Missense_Mutation_p.S308C	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	551	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GATGTTGCACTCTCTCGAACC	0.517																																																	0								ENSG00000185634						166	135	146					15																	49127052		2197	4295	6492	SHC4	SO:0001583	missense	0			-	HGNC	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1651A>T	15.37:g.49127052T>A	ENSP00000329668:p.Ser551Cys	Somatic	0	71	0		0.511914430343057	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.S551C	ENST00000332408.4	37	c.1651	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094389	0.76870	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	D;D;D	0.95035	-3.59;-3.59;-3.59	4.92	4.92	0.64577	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.92833	3.35	0.48975	D	0.999734	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98855	1.0760	10	0.87932	D	0	-0.0279	14.7222	0.69314	0.0:0.0:0.0:1.0	.	308;551	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	C	551;308;265	ENSP00000329668:S551C;ENSP00000379786:S308C;ENSP00000443300:S265C	ENSP00000329668:S551C	S	-	1	0	SHC4	46914344	0.991000	0.36638	1.000000	0.80357	0.990000	0.78478	2.198000	0.42705	2.068000	0.61886	0.482000	0.46254	AGT	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.517	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	protein_coding	OTTHUMT00000254371.1	T	NM_203349	-		49127052	-1	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	SNP	0.998	A	A	49127052	T	A	49127052	3	1	172	1	0	0	0	0	1	0	0	0	14281	1551	54	5	249	5	SHC4	15	49127052	Missense_Mutation	SNP	T	TCGA-K1-A6RU-01A-11D-A32I-09		49127052	53404340	28	12100											
UNC13C	440279	genome.wustl.edu	37	chr15	54914551	54914551	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctccaaagatgccgtgggtCagatatctgttcatgtggac	11	10	3	2			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr15:54914551C>T	ENST00000260323.11	+	30	6133	c.6133C>T	c.(6133-6135)Cag>Tag	p.Q2045*	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Q2045*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q2043*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2045					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCCGTGGGTCAGATATCTGT	0.423																																																	0								ENSG00000137766						117	119	118					15																	54914551		1970	4162	6132	UNC13C	SO:0001587	stop_gained	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6133C>T	15.37:g.54914551C>T	ENSP00000260323:p.Gln2045*	Somatic	0	27	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q2045*	ENST00000260323.11	37	c.6133	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	45	11.941422	0.99620	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	4.85	4.85	0.62838	.	0.063410	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.5997	0.56491	0.0:0.7168:0.2832:0.0	.	.	.	.	X	2045;2045;2043	.	ENSP00000260323:Q2045X	Q	+	1	0	UNC13C	52701843	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	6.948000	0.75965	2.390000	0.81377	0.585000	0.79938	CAG	-	superfamily_C2_dom		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166	-		54914551	1	no_errors	ENST00000260323	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	54914551	C	T	54914551	4	4	172	1	0	0	0	0	0	1	0	0	16993	827	29	2	6247	2	UNC13C	15	54914551	Nonsense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	5787499	54914551	47616841	29	12101											
RGMA	56963	genome.wustl.edu	37	chr15	93588269	93588269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggagcgggacgagggCgcccaggaggggccgggggg	25	10	0	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr15:93588269C>T	ENST00000329082.7	-	4	1583	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	RGMA_ENST00000538818.1_Missense_Mutation_p.A329T|RGMA_ENST00000425933.2_Missense_Mutation_p.A422T|RGMA_ENST00000542321.2_Missense_Mutation_p.A422T|RGMA_ENST00000556658.1_Missense_Mutation_p.A329T|RGMA_ENST00000543599.1_Missense_Mutation_p.A422T|RGMA_ENST00000557301.1_Missense_Mutation_p.A446T|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	438					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGGACGAGGGCGCCCAGGAGG	0.687																																																	0								ENSG00000182175						14	15	15					15																	93588269		1916	4090	6006	RGMA	SO:0001583	missense	0			-	HGNC	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1312G>A	15.37:g.93588269C>T	ENSP00000330005:p.Ala438Thr	Somatic	0	24	0		0.511914430343057	20	45.95	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP							pfam_RGM_N,pfam_RGM_C	p.A438T	ENST00000329082.7	37	c.1312	CCDS45357.1	15	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764648	0.15914	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.90844	-2.73;-2.73;-2.73;-2.73;-2.36;-2.74	4.57	-4.88	0.03113	.	0.760949	0.12704	N	0.446118	T	0.77896	0.4199	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61637	-0.7022	10	0.20046	T	0.44	-10.5532	9.4623	0.38792	0.0:0.6035:0.1392:0.2573	.	446;438	G3V518;Q96B86	.;RGMA_HUMAN	T	422;422;438;422;329;446	ENSP00000442498:A422T;ENSP00000404442:A422T;ENSP00000330005:A438T;ENSP00000440025:A422T;ENSP00000442546:A329T;ENSP00000452126:A446T	ENSP00000330005:A438T	A	-	1	0	RGMA	91389273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.103000	0.03329	-1.185000	0.02716	-0.339000	0.08088	GCC	-	NULL		0.687	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	protein_coding	OTTHUMT00000415091.1	C	NM_020211	-		93588269	-1	no_errors	ENST00000329082	ensembl	human	known	74_37	missense	SNP	0.000	T	T	93588269	C	T	93588269	3	4	172	1	0	0	0	0	1	0	0	0	13288	768	27	1	44	1	RGMA	15	93588269	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	38673718	93588269	8943123	30	12102											
CACNA1H	8912	genome.wustl.edu	37	chr16	1257370	1257370	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtggccctcatgaccttCggcaactatgtgctcttcaa	8	13	3	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr16:1257370C>T	ENST00000348261.5	+	14	3251	c.3003C>T	c.(3001-3003)ttC>ttT	p.F1001F	CACNA1H_ENST00000358590.4_Silent_p.F1001F|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Silent_p.F1001F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1001					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCATGACCTTCGGCAACTATG	0.647																																																	0								ENSG00000196557						46	46	46					16																	1257370		2049	4186	6235	CACNA1H	SO:0001819	synonymous_variant	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3003C>T	16.37:g.1257370C>T		Somatic	0	24	0		0.511914430343057	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.F1001	ENST00000348261.5	37	c.3003	CCDS45375.1	16																																																																																			-	pfam_Ion_trans_dom		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	C	NM_001005407	-		1257370	1	no_errors	ENST00000348261	ensembl	human	known	74_37	silent	SNP	0.997	T	T	1257370	C	T	1257370	2	4	172	1	0	0	0	0	0	0	0	1	2547	883	31	1		1	CACNA1H	16	1257370	Silent	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09		1257370	89097383	31	12103											
CDK12	51755	genome.wustl.edu	37	chr17	37628001	37628001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccacccttattacctggagAtgatgacatggataggtaag	10	9	0	3			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr17:37628001A>T	ENST00000447079.4	+	2	1949	c.1916A>T	c.(1915-1917)gAt>gTt	p.D639V	CDK12_ENST00000430627.2_Missense_Mutation_p.D639V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	639				D -> G (in Ref. 1; AAF36401). {ECO:0000305}.	mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTACCTGGAGATGATGACATG	0.418			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0								ENSG00000167258						99	95	96					17																	37628001		2203	4300	6503	CDK12	SO:0001583	missense	0			-	HGNC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1916A>T	17.37:g.37628001A>T	ENSP00000398880:p.Asp639Val	Somatic	0	72	0		0.511914430343057	29	9.38	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D639V	ENST00000447079.4	37	c.1916	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387979	0.42308	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69806	-0.43;-0.43	5.64	5.64	0.86602	.	0.391272	0.21938	N	0.066925	T	0.65533	0.2700	L	0.43923	1.385	0.80722	D	1	B;B;B	0.25441	0.077;0.077;0.126	B;B;B	0.34873	0.093;0.093;0.191	T	0.65294	-0.6203	10	0.66056	D	0.02	-2.6368	15.8566	0.78983	1.0:0.0:0.0:0.0	.	638;639;639	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	V	639	ENSP00000407720:D639V;ENSP00000398880:D639V	ENSP00000407720:D639V	D	+	2	0	CDK12	34881527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.387000	0.73191	2.149000	0.67028	0.533000	0.62120	GAT	-	NULL		0.418	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	protein_coding	OTTHUMT00000256941.4	A	NM_016507	-		37628001	1	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37628001	A	T	37628001	3	4	172	1	0	0	0	0	1	0	0	0	3130	333	12	5	1922	5	CDK12	17	37628001	Missense_Mutation	SNP	A	TCGA-K1-A6RU-01A-11D-A32I-09		37628001	43567209	32	12104											
ZNF43	7594	genome.wustl.edu	37	chr19	22002025	22002026	+	Splice_Site	INS	-	-	A													cataaatgtcaatggtccctINSaaaaaaaacaacacatacac							TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						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.?(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)		CAATGGTCCCTAAAAAAAACAA	0.386																																																	1	Unknown(1)	ovary(1)						ENSG00000198521																																			ZNF43	SO:0001630	splice_region_variant	0				HGNC	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.4-2->T	19.37:g.22002033_22002033dupA		Somatic	0	70	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS							-	e2-2	ENST00000354959.4	37	c.4-3_4-2	CCDS12413.2	19																																																																																			-	-		0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	protein_coding	OTTHUMT00000250380.2	-	NM_003423		Intron	22002026	-1	no_errors	ENST00000354959	ensembl	human	known	74_37	splice_site_ins	INS	0.896:0.834	A	A	22002026	-	A	22002025	8	5	172	1	0	1	1	0	0	0	1	0	17910	1536	53	0	2439	0	ZNF43	19	22002025	Splice_Site	INS	-	TCGA-K1-A6RU-01A-11D-A32I-09		22002025	37126958	33	12105											
NPHS1	4868	genome.wustl.edu	37	chr19	36322588	36322588	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgccagaggacccccccGacacaggaggcattggagag	14	14	0	2	rs370276697	byFrequency	TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr19:36322588G>A	ENST00000378910.5	-	24	3242	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1081					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCCCCCCGACACAGGAGG	0.652													G|||	2	0.000399361	0.0015	0	5008	,	,		14274	0		0	False		,,,				2504	0																0								ENSG00000161270	G		3,4403		0,3,2200	20	22	21		3243	-10.2	0	19		21	0,8600		0,0,4300	no	coding-synonymous	NPHS1	NM_004646.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		1081/1242	36322588	3,13003	2203	4300	6503	NPHS1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3243C>T	19.37:g.36322588G>A		Somatic	0	54	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	A6NDH2|C3RX61	Silent	SNP							pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1081	ENST00000378910.5	37	c.3243	CCDS32996.1	19																																																																																			-	NULL		0.652	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	G		-		36322588	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	silent	SNP	0.000	A	A	36322588	G	A	36322588	2	1	172	1	0	0	0	0	0	0	0	1	10584	1045	37	1		1	NPHS1	19	36322588	Silent	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	14320563	36322588	22806395	34	12106											
CXADR	1525	genome.wustl.edu	37	chr21	18937853	18937853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccaacatggaaggatattCcaagactcagtataaccaag	7	9	1	1			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr21:18937853C>G	ENST00000284878.7	+	7	1689	c.941C>G	c.(940-942)tCc>tGc	p.S314C	CXADR_ENST00000400169.1_Missense_Mutation_p.S314C|CXADR_ENST00000400166.1_Missense_Mutation_p.P227A|CXADR_ENST00000400165.1_Missense_Mutation_p.P175A|CXADR_ENST00000306618.10_Missense_Mutation_p.S273C	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	314					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GAAGGATATTCCAAGACTCAG	0.507																																																	0								ENSG00000154639						78	71	73					21																	18937853		2203	4300	6503	CXADR	SO:0001583	missense	0			-	HGNC	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.941C>G	21.37:g.18937853C>G	ENSP00000284878:p.Ser314Cys	Somatic	0	89	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	40	28.57	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S314C	ENST00000284878.7	37	c.941	CCDS33519.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.11|19.11	3.763055|3.763055	0.69763|0.69763	.|.	.|.	ENSG00000154639|ENSG00000154639	ENST00000400166;ENST00000400165|ENST00000284878;ENST00000400169;ENST00000306618	D;D|T;T;D	0.94828|0.87887	-2.89;-3.53|-1.12;-1.17;-2.31	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.371962	.|0.27677	.|N	.|0.018320	D|D	0.93569|0.93569	0.7947|0.7947	.|.	.|.	.|.	0.46222|0.46222	D|D	0.998937|0.998937	B;B|D;D	0.26744|0.89917	0.158;0.158|1.0;0.999	B;B|D;P	0.20184|0.70487	0.028;0.028|0.969;0.907	D|D	0.93772|0.93772	0.7076|0.7076	8|9	0.54805|0.59425	T|D	0.06|0.04	.|.	18.3313|18.3313	0.90270|0.90270	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	175;227|314;314	P78310-4;P78310-5|B7WPI3;P78310	.;.|.;CXAR_HUMAN	A|C	227;175|314;314;273	ENSP00000383030:P227A;ENSP00000383029:P175A|ENSP00000284878:S314C;ENSP00000383033:S314C;ENSP00000303395:S273C	ENSP00000383029:P175A|ENSP00000284878:S314C	P|S	+|+	1|2	0|0	CXADR|CXADR	17859724|17859724	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.866000|0.866000	0.49608|0.49608	3.513000|3.513000	0.53414|0.53414	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	CCA|TCC	-	NULL		0.507	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	protein_coding	OTTHUMT00000158209.1	C		-		18937853	1	no_errors	ENST00000284878	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18937853	C	G	18937853	3	3	172	1	0	0	0	0	1	0	0	0	4078	855	30	4	967	4	CXADR	21	18937853	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09		18937853	29192042	35	12107											
CXADR	1525	genome.wustl.edu	37	chr21	18937978	18937978	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgcgattcctgtgatgattCcagcacagagcaaggatggg	14	8	0	3	rs142651712	byFrequency	TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr21:18937978C>G	ENST00000284878.7	+	7	1814	c.1066C>G	c.(1066-1068)Cca>Gca	p.P356A	CXADR_ENST00000400169.1_Intron|CXADR_ENST00000400166.1_3'UTR|CXADR_ENST00000306618.10_Missense_Mutation_p.P315A	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	356					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TGTGATGATTCCAGCACAGAG	0.458																																																	0								ENSG00000154639						58	56	57					21																	18937978		2202	4300	6502	CXADR	SO:0001583	missense	0			-	HGNC	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.1066C>G	21.37:g.18937978C>G	ENSP00000284878:p.Pro356Ala	Somatic	0	84	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P356A	ENST00000284878.7	37	c.1066	CCDS33519.1	21	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237702	0.79800	.	.	ENSG00000154639	ENST00000284878;ENST00000306618	D;D	0.99418	-3.87;-5.87	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98681	1.0692	10	0.87932	D	0	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	356	P78310	CXAR_HUMAN	A	356;315	ENSP00000284878:P356A;ENSP00000303395:P315A	ENSP00000284878:P356A	P	+	1	0	CXADR	17859849	1.000000	0.71417	0.992000	0.48379	0.739000	0.42172	7.195000	0.77798	2.713000	0.92767	0.655000	0.94253	CCA	-	NULL		0.458	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	protein_coding	OTTHUMT00000158209.1	C		-		18937978	1	no_errors	ENST00000284878	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18937978	C	G	18937978	3	3	172	1	0	0	0	0	1	0	0	0	4078	855	30	4	1092	4	CXADR	21	18937978	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	125	18937978	29191917	36	12108											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19647612	19647612	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggcatctctcatttgataGaagaggaacatcagcttctt	8	8	4	3			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr21:19647612G>A	ENST00000284885.3	-	24	2839	c.2806C>T	c.(2806-2808)Cta>Tta	p.L936L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	936	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						TCATTTGATAGAAGAGGAACA	0.403																																																	0								ENSG00000154646						158	143	148					21																	19647612		2203	4300	6503	TMPRSS15	SO:0001819	synonymous_variant	0			-	HGNC		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.2806C>T	21.37:g.19647612G>A		Somatic	0	63	0		0.511914430343057	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q2NKL7	Silent	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.L936	ENST00000284885.3	37	c.2806	CCDS13571.1	21																																																																																			-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.403	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	G	NM_002772	-		19647612	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	silent	SNP	0.191	A	A	19647612	G	A	19647612	2	1	172	1	0	0	0	0	0	0	0	1	16253	933	33	2		2	TMPRSS15	21	19647612	Silent	SNP	G	TCGA-K1-A6RU-01A-11D-A32I-09	709634	19647612	28482283	37	12109											
PFKL	5211	genome.wustl.edu	37	chr21	45732052	45732052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaggggcgccgggcagCggcctacaacctggtccagc	17	14	0	0			TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chr21:45732052C>T	ENST00000349048.4	+	4	357	c.302C>T	c.(301-303)gCg>gTg	p.A101V	PFKL_ENST00000403390.1_Missense_Mutation_p.A148V|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	101	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCCGGGCAGCGGCCTACAAC	0.642																																																	0								ENSG00000141959						29	24	26					21																	45732052		2193	4294	6487	PFKL	SO:0001583	missense	0			-	HGNC		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.302C>T	21.37:g.45732052C>T	ENSP00000269848:p.Ala101Val	Somatic	0	63	0		0.511914430343057	195	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP							pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A148V	ENST00000349048.4	37	c.443	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095854	0.76870	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80304	-1.36;-1.36	4.3	4.3	0.51218	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.999;0.995	D;B	0.64776	0.929;0.446	D	0.90212	0.4265	10	0.87932	D	0	-25.5253	15.9247	0.79606	0.0:1.0:0.0:0.0	.	101;148	P17858;P17858-2	K6PL_HUMAN;.	V	101;151;148	ENSP00000269848:A101V;ENSP00000384038:A148V	ENSP00000269848:A101V	A	+	2	0	PFKL	44556480	1.000000	0.71417	0.206000	0.23566	0.373000	0.29922	5.727000	0.68523	2.111000	0.64477	0.467000	0.42956	GCG	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.642	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	protein_coding	OTTHUMT00000195805.1	C		-		45732052	1	no_errors	ENST00000403390	ensembl	human	known	74_37	missense	SNP	0.996	T	T	45732052	C	T	45732052	3	4	172	1	0	0	0	0	1	0	0	0	11766	768	27	1	316	1	PFKL	21	45732052	Missense_Mutation	SNP	C	TCGA-K1-A6RU-01A-11D-A32I-09	26084440	45732052	2397843	38	12110											
AR	367	genome.wustl.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-K1-A6RU-01A-11D-A32I-09	TCGA-K1-A6RU-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e02a96d-ef23-4b00-8641-d581b76ddd9b	03aec406-2c3f-495c-9c57-e8a624ff3317	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																																								2	Substitution - Missense(2)	lung(1)|endometrium(1)	GRCh37	CM033749	AR	M	rs5902610	ENSG00000169083						8	11	10					X																	66765161		2116	4153	6269	AR	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu	Somatic	0	68	0		0.511914430343057	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP							pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q58L	ENST00000374690.3	37	c.173	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG	-	pfam_Andrgn_rcpt		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	A	NM_000044	rs200185441		66765161	1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	SNP	0.920	T	T	66765161	A	T	66765161	3	4	172	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-K1-A6RU-01A-11D-A32I-09		66765161	88505399	39	12111											
NADK	65220	genome.wustl.edu	37	chr1	1684501	1684501	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtagtgatgctgatgcTgggacgggagagcagcagcc	18	7	0	4			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:1684501T>A	ENST00000341426.5	-	12	1406		c.e12-2		NADK_ENST00000378625.1_Splice_Site|NADK_ENST00000344463.4_Splice_Site|NADK_ENST00000342348.5_Splice_Site|NADK_ENST00000341991.3_Splice_Site	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ATGCTGATGCTGGGACGGGAG	0.637																																																	0								ENSG00000008130						40	26	31					1																	1684501		2200	4298	6498	NADK	SO:0001630	splice_region_variant	0			-	HGNC	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1185-2A>T	1.37:g.1684501T>A		Somatic	0	79	0		0.655363380285002	0	100	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	14	80.00	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Splice_Site	SNP							-	e13-2	ENST00000341426.5	37	c.1620-2	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	t	12.25	1.881740	0.33255	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9551	0.58424	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NADK	1674361	1.000000	0.71417	0.972000	0.41901	0.510000	0.34073	7.173000	0.77612	1.752000	0.51891	0.459000	0.35465	.	-	-		0.637	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	protein_coding	OTTHUMT00000002769.1	T	NM_023018	-	Intron	1684501	-1	no_errors	ENST00000344463	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	1684501	T	A	1684501	5	1	173	1	0	0	0	0	0	0	1	0	10139	1594	55	5	161	5	NADK	1	1684501	Splice_Site	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09		1684501	247566120	1	12112											
PRDM16	63976	genome.wustl.edu	37	chr1	3328332	3328332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctccatccttgtaccCccggccgcctctgctacctc	5	22	1	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:3328332C>A	ENST00000270722.5	+	9	1620	c.1571C>A	c.(1570-1572)cCc>cAc	p.P524H	PRDM16_ENST00000378398.3_Missense_Mutation_p.P525H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.P524H|PRDM16_ENST00000442529.2_Missense_Mutation_p.P524H|PRDM16_ENST00000514189.1_Missense_Mutation_p.P525H|PRDM16_ENST00000441472.2_Missense_Mutation_p.P524H|PRDM16_ENST00000511072.1_Missense_Mutation_p.P525H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	524	Pro-rich.				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)		TCCTTGTACCCCCGGCCGCCT	0.706			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								ENSG00000142611						62	80	74					1																	3328332		1922	4117	6039	PRDM16	SO:0001583	missense	0			-	HGNC	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.1571C>A	1.37:g.3328332C>A	ENSP00000270722:p.Pro524His	Somatic	0	74	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	13	75.93	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P524H	ENST00000270722.5	37	c.1571	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	C	6.574	0.474225	0.12521	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06768	3.31;3.38;3.39;3.37;3.37;3.26;3.39;3.34;3.27	5.33	5.33	0.75918	.	0.000000	0.50627	U	0.000109	T	0.21550	0.0519	L	0.42245	1.32	0.51482	D	0.999929	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.91635	0.888;0.999;0.994;0.98	T	0.04294	-1.0962	10	0.15066	T	0.55	.	19.0652	0.93108	0.0:1.0:0.0:0.0	.	524;524;524;524	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	H	525;525;524;524;524;525;524;340;340;333	ENSP00000426975:P525H;ENSP00000367651:P525H;ENSP00000407968:P524H;ENSP00000405253:P524H;ENSP00000367643:P524H;ENSP00000421400:P525H;ENSP00000270722:P524H;ENSP00000422504:P340H;ENSP00000425796:P333H	ENSP00000270722:P524H	P	+	2	0	PRDM16	3318192	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.793000	0.62474	2.526000	0.85167	0.603000	0.83216	CCC	-	NULL		0.706	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	C	NM_022114	-		3328332	1	no_errors	ENST00000270722	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3328332	C	A	3328332	3	1	173	1	0	0	0	0	1	0	0	0	12462	623	22	3	1605	3	PRDM16	1	3328332	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	1643831	3328332	245922289	2	12113											
COL16A1	1307	genome.wustl.edu	37	chr1	32151243	32151243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatatcccacctcacctgTtttcctggcaagccaaagcc	5	17	1	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:32151243T>C	ENST00000373672.3	-	29	2529	c.2013A>G	c.(2011-2013)aaA>aaG	p.K671K	COL16A1_ENST00000271069.6_Silent_p.K670K|COL16A1_ENST00000373668.3_Silent_p.K671K	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	671	Collagen-like 3.|Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ACCTCACCTGTTTTCCTGGCA	0.642																																					Colon(143;498 1786 21362 25193 36625)												0								ENSG00000084636						85	93	90					1																	32151243		1875	4106	5981	COL16A1	SO:0001819	synonymous_variant	0			-	HGNC	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2013A>G	1.37:g.32151243T>C		Somatic	0	125	0		0.655363380285002	238	27.44	90	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	67	27.96	Q16593|Q59F89|Q71RG9	Silent	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.K670	ENST00000373672.3	37	c.2010	CCDS41297.1	1																																																																																			-	pfam_Collagen		0.642	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	protein_coding	OTTHUMT00000011057.2	T	NM_001856	-		32151243	-1	no_errors	ENST00000271069	ensembl	human	known	74_37	silent	SNP	0.987	C	C	32151243	T	C	32151243	2	2	173	1	0	0	0	0	0	0	0	1	3675	1722	60	5		5	COL16A1	1	32151243	Silent	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	28822911	32151243	217099378	3	12114											
CSMD2	114784	genome.wustl.edu	37	chr1	34401431	34401431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggcaggtgagcacggcGtggccctccaggaagaagcc	17	12	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:34401431G>T	ENST00000373381.4	-	4	818	c.642C>A	c.(640-642)caC>caA	p.H214Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	174	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGCACGGCGTGGCCCTCCA	0.627																																																	0								ENSG00000121904						94	86	89					1																	34401431		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.642C>A	1.37:g.34401431G>T	ENSP00000362479:p.His214Gln	Somatic	0	35	0		0.655363380285002	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H214Q	ENST00000373381.4	37	c.642		1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125183	0.37533	.	.	ENSG00000121904	ENST00000373381	T	0.61980	0.06	5.27	-2.42	0.06542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.61825	0.2378	N	0.21324	0.655	0.80722	D	1	D;D	0.89917	0.96;1.0	P;D	0.97110	0.812;1.0	T	0.58177	-0.7682	10	0.39692	T	0.17	.	13.0233	0.58800	0.5393:0.0:0.4607:0.0	.	174;214	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	214	ENSP00000362479:H214Q	ENSP00000241312:H174Q	H	-	3	2	CSMD2	34174018	0.129000	0.22400	0.960000	0.40013	0.699000	0.40488	-0.423000	0.07034	-0.510000	0.06523	-2.303000	0.00259	CAC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		G	NM_052896	-		34401431	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	0.971	T	T	34401431	G	T	34401431	3	4	173	1	0	0	0	0	1	0	0	0	3947	1136	40	3	10205	3	CSMD2	1	34401431	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	2250188	34401431	214849190	4	12115											
TEKT2	27285	genome.wustl.edu	37	chr1	36553137	36553137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtcccatacccggcTagaggccagaacctaccggc	11	15	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:36553137T>A	ENST00000207457.3	+	8	1080	c.953T>A	c.(952-954)cTa>cAa	p.L318Q	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	318					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATACCCGGCTAGAGGCCAGA	0.617																																																	0								ENSG00000092850						43	49	47					1																	36553137		2203	4300	6503	TEKT2	SO:0001583	missense	0			-	HGNC	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.953T>A	1.37:g.36553137T>A	ENSP00000207457:p.Leu318Gln	Somatic	0	72	0		0.655363380285002	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	35	51.39	A6NIS6|O60638	Missense_Mutation	SNP							pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.L318Q	ENST00000207457.3	37	c.953	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648015	0.87958	.	.	ENSG00000092850	ENST00000207457	T	0.07908	3.15	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.38719	0.1051	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50906	-0.8772	10	0.62326	D	0.03	.	15.4263	0.75055	0.0:0.0:0.0:1.0	.	318	Q9UIF3	TEKT2_HUMAN	Q	318	ENSP00000207457:L318Q	ENSP00000207457:L318Q	L	+	2	0	TEKT2	36325724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.780000	0.68956	2.053000	0.61076	0.460000	0.39030	CTA	-	pfam_Tektin,superfamily_Prefoldin,prints_Tektin		0.617	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	protein_coding	OTTHUMT00000020200.1	T	NM_014466	-		36553137	1	no_errors	ENST00000207457	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36553137	T	A	36553137	3	1	173	1	0	0	0	0	1	0	0	0	15760	1522	53	5	979	5	TEKT2	1	36553137	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	2151706	36553137	212697484	5	12116											
ZZZ3	26009	genome.wustl.edu	37	chr1	78031803	78031803	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagaaatccaaagacatttCtggaggacaatcctggcaat	8	9	1	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:78031803C>G	ENST00000370801.3	-	14	3005	c.2530G>C	c.(2530-2532)Gaa>Caa	p.E844Q	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.E350Q	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	844					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AAAGACATTTCTGGAGGACAA	0.393																																																	0								ENSG00000036549						63	60	61					1																	78031803		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2530G>C	1.37:g.78031803C>G	ENSP00000359837:p.Glu844Gln	Somatic	0	101	0		0.655363380285002	30	36.17	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	97	15.52	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E844Q	ENST00000370801.3	37	c.2530	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897293	0.33535	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.90324	-2.65;-2.65	5.23	5.23	0.72850	Zinc finger, ZZ-type (4);	0.117822	0.56097	D	0.000023	T	0.75576	0.3868	N	0.12961	0.28	0.49051	D	0.999749	B;B;B	0.31153	0.004;0.31;0.069	B;B;B	0.28553	0.006;0.091;0.031	T	0.77550	-0.2546	10	0.42905	T	0.14	.	14.7606	0.69604	0.0:0.8559:0.1441:0.0	.	350;844;843	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	844;350	ENSP00000359837:E844Q;ENSP00000359834:E350Q	ENSP00000359834:E350Q	E	-	1	0	ZZZ3	77804391	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.811000	0.69187	2.606000	0.88127	0.655000	0.94253	GAA	-	pfam_Znf_ZZ,pfscan_Znf_ZZ		0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	C	NM_015534	-		78031803	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	G	G	78031803	C	G	78031803	3	3	173	1	0	0	0	0	1	0	0	0	18263	922	32	4	189	4	ZZZ3	1	78031803	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	41478666	78031803	171218818	6	12117			1	86		3	3	46	C		8.182161e-09
ZZZ3	26009	genome.wustl.edu	37	chr1	78031815	78031815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacatttctggaggacaatCctggcaatgccaccgaacac	9	12	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:78031815C>T	ENST00000370801.3	-	14	2993	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.D346N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	840					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GGAGGACAATCCTGGCAATGC	0.398																																																	0								ENSG00000036549						64	61	62					1																	78031815		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2518G>A	1.37:g.78031815C>T	ENSP00000359837:p.Asp840Asn	Somatic	0	109	0		0.655363380285002	37	32.73	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	107	15.08	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.D840N	ENST00000370801.3	37	c.2518	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898318	0.72639	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91180	-2.8;-2.8	5.23	5.23	0.72850	Zinc finger, ZZ-type (4);	0.117136	0.56097	D	0.000035	D	0.92351	0.7573	L	0.42686	1.345	0.80722	D	1	P;D;D	0.89917	0.827;1.0;0.999	P;D;D	0.97110	0.526;1.0;0.964	D	0.90958	0.4810	10	0.37606	T	0.19	.	19.1896	0.93660	0.0:1.0:0.0:0.0	.	346;840;839	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	840;346	ENSP00000359837:D840N;ENSP00000359834:D346N	ENSP00000359834:D346N	D	-	1	0	ZZZ3	77804403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.879000	0.69690	2.606000	0.88127	0.655000	0.94253	GAT	-	pfam_Znf_ZZ,pfscan_Znf_ZZ		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	C	NM_015534	-		78031815	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78031815	C	T	78031815	3	4	173	1	0	0	0	0	1	0	0	0	18263	855	30	2	201	2	ZZZ3	1	78031815	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	12	78031815	171218806	7	12118			1	86		3	3	46	C		8.182161e-09
ZZZ3	26009	genome.wustl.edu	37	chr1	78031848	78031848	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgaacaccctggatgggttCtatgccacagttatcacact	8	13	2	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:78031848C>T	ENST00000370801.3	-	14	2960	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.E335K	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	829					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGGATGGGTTCTATGCCACAG	0.383																																																	0								ENSG00000036549						54	52	53					1																	78031848		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2485G>A	1.37:g.78031848C>T	ENSP00000359837:p.Glu829Lys	Somatic	0	113	0		0.655363380285002	39	25	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	107	14.40	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E829K	ENST00000370801.3	37	c.2485	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188424	0.78789	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.91237	-2.81;-2.81	5.23	5.23	0.72850	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.92848	0.7725	L	0.49513	1.565	0.80722	D	1	P;D;D	0.63880	0.72;0.993;0.971	B;D;P	0.66716	0.35;0.946;0.783	D	0.92663	0.6143	10	0.54805	T	0.06	.	19.1896	0.93660	0.0:1.0:0.0:0.0	.	335;829;828	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	829;335	ENSP00000359837:E829K;ENSP00000359834:E335K	ENSP00000359834:E335K	E	-	1	0	ZZZ3	77804436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.612000	0.82975	2.606000	0.88127	0.655000	0.94253	GAA	-	pfam_Znf_ZZ,pfscan_Znf_ZZ		0.383	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	C	NM_015534	-		78031848	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78031848	C	T	78031848	3	4	173	1	0	0	0	0	1	0	0	0	18263	922	32	2	234	2	ZZZ3	1	78031848	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	33	78031848	171218773	8	12119			1	86		3	3	46	C		8.182161e-09
SHE	126669	genome.wustl.edu	37	chr1	154474064	154474064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtccaccttgatgaGcctgttgatgtaggtgctgc	13	9	0	4			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:154474064G>T	ENST00000304760.2	-	1	525	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	TDRD10_ENST00000368482.4_5'Flank|TDRD10_ENST00000368480.3_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	147										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			ACCTTGATGAGCCTGTTGATG	0.642																																																	0								ENSG00000169291						129	104	112					1																	154474064		2203	4300	6503	SHE	SO:0001583	missense	0			-	HGNC	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.439C>A	1.37:g.154474064G>T	ENSP00000307369:p.Leu147Ile	Somatic	0	28	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q8TEQ5	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.L147I	ENST00000304760.2	37	c.439	CCDS30877.1	1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.429660	0.83776	.	.	ENSG00000169291	ENST00000304760	T	0.32023	1.47	4.85	4.85	0.62838	.	0.075162	0.56097	D	0.000039	T	0.34135	0.0887	M	0.71581	2.175	0.32967	D	0.521877	D	0.58620	0.983	P	0.51016	0.656	T	0.35226	-0.9797	10	0.72032	D	0.01	-25.5219	15.5094	0.75769	0.0:0.0:1.0:0.0	.	147	Q5VZ18	SHE_HUMAN	I	147	ENSP00000307369:L147I	ENSP00000307369:L147I	L	-	1	0	SHE	152740688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.765000	0.55272	2.504000	0.84457	0.556000	0.70494	CTC	-	NULL		0.642	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	protein_coding	OTTHUMT00000087910.2	G	NM_001010846	-		154474064	-1	no_errors	ENST00000304760	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154474064	G	T	154474064	3	4	173	1	0	0	0	0	1	0	0	0	14284	971	34	3	1072	3	SHE	1	154474064	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	76442216	154474064	94776557	9	12120											
CD84	8832	genome.wustl.edu	37	chr1	160535413	160535413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacataagcaacagatgtttTagaagtccaagcaatgattt	7	6	0	3			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:160535413T>C	ENST00000311224.4	-	2	235	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	CD84_ENST00000368048.3_Missense_Mutation_p.K57E|CD84_ENST00000368054.3_Missense_Mutation_p.K57E|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Missense_Mutation_p.K57E	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	57	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACAGATGTTTTAGAAGTCCAA	0.423																																																	0								ENSG00000066294						137	131	133					1																	160535413		2203	4300	6503	CD84	SO:0001583	missense	0			-	HGNC	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.169A>G	1.37:g.160535413T>C	ENSP00000312367:p.Lys57Glu	Somatic	0	54	0		0.655363380285002	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.K57E	ENST00000311224.4	37	c.169	CCDS53396.1	1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264223	0.23136	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.11	-8.27	0.01017	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.462330	0.03383	N	0.200696	T	0.02888	0.0086	N	0.16790	0.44	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.001	T	0.21518	-1.0243	10	0.17369	T	0.5	-5.772	8.7416	0.34560	0.0:0.4552:0.3566:0.1882	.	57;57;57;57;57;57	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	E	57	ENSP00000357033:K57E;ENSP00000357027:K57E;ENSP00000312367:K57E;ENSP00000357030:K57E;ENSP00000353163:K57E;ENSP00000357026:K57E	ENSP00000312367:K57E	K	-	1	0	CD84	158802037	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.878000	0.04192	-1.259000	0.02468	-1.505000	0.00955	AAA	-	smart_Ig_sub		0.423	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	protein_coding	OTTHUMT00000059092.1	T	NM_003874	-		160535413	-1	no_errors	ENST00000311224	ensembl	human	novel	74_37	missense	SNP	0.000	C	C	160535413	T	C	160535413	3	2	173	1	0	0	0	0	1	0	0	0	3044	1763	61	5	896	5	CD84	1	160535413	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	6061349	160535413	88715208	10	12121											
SLC26A9	115019	genome.wustl.edu	37	chr1	205892290	205892290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaggtatttttgctTggctagtaatactttctggg	10	6	2	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:205892290T>G	ENST00000367135.3	-	16	1806	c.1693A>C	c.(1693-1695)Aag>Cag	p.K565Q	SLC26A9_ENST00000340781.4_Missense_Mutation_p.K565Q|SLC26A9_ENST00000367134.2_Missense_Mutation_p.K565Q	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	565	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TATTTTTGCTTGGCTAGTAAT	0.507																																																	0								ENSG00000174502						177	158	164					1																	205892290		2203	4300	6503	SLC26A9	SO:0001583	missense	0			-	HGNC	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1693A>C	1.37:g.205892290T>G	ENSP00000356103:p.Lys565Gln	Somatic	0	51	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K565Q	ENST00000367135.3	37	c.1693	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055742	0.75960	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93426	-3.22;-3.17;-3.22	5.49	5.49	0.81192	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.122556	0.53938	D	0.000056	D	0.95185	0.8439	M	0.70275	2.135	0.38984	D	0.959002	P;D	0.61080	0.896;0.989	P;P	0.57371	0.602;0.819	D	0.95573	0.8640	10	0.48119	T	0.1	.	14.4373	0.67290	0.0:0.0:0.0:1.0	.	565;565	Q7LBE3;B1AVM8	S26A9_HUMAN;.	Q	565	ENSP00000341682:K565Q;ENSP00000356103:K565Q;ENSP00000356102:K565Q	ENSP00000341682:K565Q	K	-	1	0	SLC26A9	204158913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.657000	0.54474	2.076000	0.62316	0.533000	0.62120	AAG	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.507	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	protein_coding	OTTHUMT00000087742.1	T	NM_052934	-		205892290	-1	no_errors	ENST00000340781	ensembl	human	known	74_37	missense	SNP	1.000	G	G	205892290	T	G	205892290	3	3	173	1	0	0	0	0	1	0	0	0	14532	1821	63	5	1002	5	SLC26A9	1	205892290	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	45356877	205892290	43358331	11	12122											
OR2W5	441932	genome.wustl.edu	37	chr1	247654688	247654688	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgtggaacctggggGgtccagagaagaccatcacc	14	11	1	2	rs368780486		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr1:247654688G>T	ENST00000522351.1	+	0	319							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAACCTGGGGGGTCCAGAGAA	0.542																																																	0								ENSG00000203664						86	87	87					1																	247654688		2203	4300	6503	OR2W5			0			-	HGNC			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654688G>T		Somatic	0	11	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	B9EH85	RNA	SNP							-	NULL	ENST00000522351.1	37	NULL		1																																																																																			-	-		0.542	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	pseudogene	OTTHUMT00000375789.1	G	NM_001004698	-		247654688	1	no_errors	ENST00000522351	ensembl	human	known	74_37	rna	SNP	0.568	T	T	247654688	G	T	247654688	1	4	173	0	1	0	0	0	0	0	0	0	11036	1232	43	3		3	OR2W5	1	247654688	RNA	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	41762398	247654688	1595933	12	12123											
KCNH7	90134	genome.wustl.edu	37	chr2	163279886	163279886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtaagtccatgcgtgcTggaaatattcttcaagacgt	11	7	2	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr2:163279886T>C	ENST00000332142.5	-	9	2213	c.2114A>G	c.(2113-2115)cAg>cGg	p.Q705R	KCNH7_ENST00000328032.4_Missense_Mutation_p.Q698R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	705					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCATGCGTGCTGGAAATATTC	0.448																																					GBM(196;1492 2208 17507 24132 45496)												0								ENSG00000184611						248	231	237					2																	163279886		2203	4300	6503	KCNH7	SO:0001583	missense	0			-	HGNC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2114A>G	2.37:g.163279886T>C	ENSP00000331727:p.Gln705Arg	Somatic	0	103	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	92	12.38	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.Q705R	ENST00000332142.5	37	c.2114	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686658	0.88639	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96774	-4.12;-4.12	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.77313	2.365	0.80722	D	1	D;B	0.89917	1.0;0.23	D;B	0.91635	0.999;0.168	D	0.98048	1.0386	10	0.44086	T	0.13	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	698;705	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	R	705;698	ENSP00000331727:Q705R;ENSP00000333781:Q698R	ENSP00000333781:Q698R	Q	-	2	0	KCNH7	162988132	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.997000	0.88414	2.225000	0.72522	0.459000	0.35465	CAG	-	superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG		0.448	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	protein_coding	OTTHUMT00000255093.1	T	NM_033272	-		163279886	-1	no_errors	ENST00000332142	ensembl	human	known	74_37	missense	SNP	1.000	C	C	163279886	T	C	163279886	3	2	173	1	0	0	0	0	1	0	0	0	8039	1580	55	5	1574	5	KCNH7	2	163279886	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09		163279886	79919487	13	12124											
DHRS9	10170	genome.wustl.edu	37	chr2	169948327	169948327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagcttttggtgtgcaCgtctcatgcattgaaccagg	11	8	1	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr2:169948327C>T	ENST00000327239.4	+	7	2104	c.600C>T	c.(598-600)caC>caT	p.H200H	DHRS9_ENST00000432060.2_Silent_p.H260H|DHRS9_ENST00000428522.1_Silent_p.H200H|DHRS9_ENST00000357546.2_Silent_p.H200H|DHRS9_ENST00000421653.1_Silent_p.H53H|DHRS9_ENST00000412271.1_Silent_p.H200H|DHRS9_ENST00000436483.2_Silent_p.H200H|DHRS9_ENST00000602501.1_Silent_p.H200H	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	200					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTGGTGTGCACGTCTCATGCA	0.393																																																	0								ENSG00000073737						99	97	98					2																	169948327		2203	4300	6503	DHRS9	SO:0001819	synonymous_variant	0			-	HGNC	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.600C>T	2.37:g.169948327C>T		Somatic	0	100	0		0.655363380285002	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	27	61.97	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.H260	ENST00000327239.4	37	c.780	CCDS2231.1	2																																																																																			-	prints_Glc/ribitol_DH		0.393	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	protein_coding	OTTHUMT00000333612.3	C	NM_005771	-		169948327	1	no_errors	ENST00000432060	ensembl	human	known	74_37	silent	SNP	0.767	T	T	169948327	C	T	169948327	2	4	173	1	0	0	0	0	0	0	0	1	4500	535	19	1		1	DHRS9	2	169948327	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	6668441	169948327	73251046	14	12125											
KIF1A	547	genome.wustl.edu	37	chr2	241700664	241700664	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accttctttttcagctccacGctgatggcattggcctcctt	7	14	2	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr2:241700664G>C	ENST00000320389.7	-	23	2378	c.2220C>G	c.(2218-2220)agC>agG	p.S740R	KIF1A_ENST00000498729.2_Missense_Mutation_p.S749R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	740					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAGCTCCACGCTGATGGCAT	0.587																																																	0								ENSG00000130294						156	171	166					2																	241700664		2121	4236	6357	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2220C>G	2.37:g.241700664G>C	ENSP00000322791:p.Ser740Arg	Somatic	0	20	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	6	76.92	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S749R	ENST00000320389.7	37	c.2247	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548094	0.65311	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.79940	-1.32;-1.32;-1.32	5.06	-2.51	0.06365	.	0.099960	0.64402	U	0.000002	D	0.88599	0.6480	M	0.90483	3.12	0.58432	D	0.999999	D;P;P	0.62365	0.991;0.874;0.585	D;P;B	0.66196	0.942;0.601;0.282	D	0.88501	0.3082	10	0.52906	T	0.07	.	13.1319	0.59387	0.7039:0.0:0.2961:0.0	.	749;749;740	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	R	740;749;749;749	ENSP00000322791:S740R;ENSP00000438388:S749R;ENSP00000384231:S749R	ENSP00000322791:S740R	S	-	3	2	KIF1A	241349337	0.002000	0.14202	0.994000	0.49952	0.991000	0.79684	-1.176000	0.03099	-0.235000	0.09767	-0.207000	0.12724	AGC	-	NULL		0.587	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-		241700664	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	0.996	C	C	241700664	G	C	241700664	3	2	173	1	0	0	0	0	1	0	0	0	8285	1078	38	4	2952	4	KIF1A	2	241700664	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	71752337	241700664	1498709	15	12126											
DAZL	1618	genome.wustl.edu	37	chr3	16638396	16638396	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgcacatgataagcaCctttttgaaaagcaaaaaga	9	7	0	3			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr3:16638396C>A	ENST00000399444.2	-	6	652	c.359G>T	c.(358-360)tGt>tTt	p.C120F	DAZL_ENST00000250863.8_Splice_Site_p.C140F	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	120	Homodimerization. {ECO:0000250}.				female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ATGATAAGCACCTTTTTGAAA	0.338																																																	0								ENSG00000092345						130	124	126					3																	16638396		2046	4233	6279	DAZL	SO:0001630	splice_region_variant	0			-	HGNC	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.359-1G>T	3.37:g.16638396C>A		Somatic	0	231	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	114	143	44.36	O15396|Q5HYB4|Q92909	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.C120F	ENST00000399444.2	37	c.359	CCDS43059.1	3	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838424	0.51057	.	.	ENSG00000092345	ENST00000250863;ENST00000399444;ENST00000454457	T;T;T	0.34472	1.36;1.86;1.36	4.54	4.54	0.55810	.	0.057881	0.64402	D	0.000001	T	0.53883	0.1824	M	0.75264	2.295	0.46981	D	0.999273	D;D	0.59357	0.985;0.985	P;P	0.58780	0.786;0.845	T	0.56396	-0.7986	10	0.62326	D	0.03	.	13.0961	0.59192	0.0:1.0:0.0:0.0	.	120;140	Q92904;Q5HYB4	DAZL_HUMAN;.	F	140;120;158	ENSP00000250863:C140F;ENSP00000382373:C120F;ENSP00000398109:C158F	ENSP00000250863:C140F	C	-	2	0	DAZL	16613400	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.512000	0.45485	2.813000	0.96785	0.609000	0.83330	TGT	-	NULL		0.338	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZL	protein_coding	OTTHUMT00000347261.2	C	NM_001351	-	Missense_Mutation	16638396	-1	no_errors	ENST00000399444	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16638396	C	A	16638396	5	1	173	1	0	0	0	0	0	0	1	0	4248	521	18	3	552	3	DAZL	3	16638396	Splice_Site	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09		16638396	181384034	16	12127											
MYRIP	25924	genome.wustl.edu	37	chr3	40231809	40231809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttggccagcagggagaCctcggacagcagcgagccgg	16	13	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr3:40231809C>T	ENST00000302541.6	+	10	1862	c.1520C>T	c.(1519-1521)aCc>aTc	p.T507I	MYRIP_ENST00000444716.1_Missense_Mutation_p.T507I|MYRIP_ENST00000396217.3_Missense_Mutation_p.T418I|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.T507I|MYRIP_ENST00000539167.1_Missense_Mutation_p.T320I	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	507	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGCAGGGAGACCTCGGACAGC	0.637																																																	0								ENSG00000170011						61	68	66					3																	40231809		2203	4300	6503	MYRIP	SO:0001583	missense	0			-	HGNC	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1520C>T	3.37:g.40231809C>T	ENSP00000301972:p.Thr507Ile	Somatic	0	24	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	46.51	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP							pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.T507I	ENST00000302541.6	37	c.1520	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435314	0.62955	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.94	3.94	0.45596	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.395909	0.25408	N	0.030894	T	0.32436	0.0829	L	0.40543	1.245	0.28958	N	0.890017	D;D;D	0.62365	0.991;0.958;0.984	P;P;P	0.59424	0.857;0.663;0.825	T	0.07102	-1.0790	9	.	.	.	.	7.7165	0.28708	0.3082:0.5591:0.1328:0.0	.	418;507;507	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	I	507;507;507;418;320	ENSP00000398665:T507I;ENSP00000301972:T507I;ENSP00000389323:T507I;ENSP00000379519:T418I;ENSP00000438297:T320I	.	T	+	2	0	MYRIP	40206813	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.647000	0.46639	1.482000	0.48325	0.655000	0.94253	ACC	-	pfam_Myrip/Melanophilin		0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	protein_coding	OTTHUMT00000254181.2	C	NM_015460	-		40231809	1	no_errors	ENST00000302541	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40231809	C	T	40231809	3	4	173	1	0	0	0	0	1	0	0	0	10102	507	18	2	1554	2	MYRIP	3	40231809	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	23593413	40231809	157790621	17	12128											
KBTBD12	166348	genome.wustl.edu	37	chr3	127642187	127642187	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acatgtacaatgcagctttgGagatcaataatgccaatgta	8	7	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr3:127642187G>C	ENST00000405109.1	+	2	750	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	KBTBD12_ENST00000343941.4_5'Flank|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.E95Q			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	95	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGCAGCTTTGGAGATCAATAA	0.378																																																	0								ENSG00000187715						77	72	73					3																	127642187		1925	4130	6055	KBTBD12	SO:0001583	missense	0			-	HGNC		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.283G>C	3.37:g.127642187G>C	ENSP00000385957:p.Glu95Gln	Somatic	0	44	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	B5MCC6|Q6ZRK1	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E95Q	ENST00000405109.1	37	c.283	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183350	0.21870	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.68025	-0.3;-0.3	5.75	4.86	0.63082	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.49474	0.1559	N	0.21282	0.65	0.25685	N	0.985751	B	0.15141	0.012	B	0.13407	0.009	T	0.32798	-0.9893	9	0.16420	T	0.52	.	9.3085	0.37889	0.0774:0.3552:0.5674:0.0	.	95	Q3ZCT8	KBTBC_HUMAN	Q	95	ENSP00000385957:E95Q;ENSP00000385879:E95Q	ENSP00000385957:E95Q	E	+	1	0	KBTBD12	129124877	1.000000	0.71417	0.831000	0.32960	0.782000	0.44232	4.312000	0.59154	1.383000	0.46405	0.460000	0.39030	GAG	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.378	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	protein_coding	OTTHUMT00000318682.1	G	NM_207335	-		127642187	1	no_errors	ENST00000405109	ensembl	human	known	74_37	missense	SNP	0.994	C	C	127642187	G	C	127642187	3	2	173	1	0	0	0	0	1	0	0	0	7993	1175	41	4	285	4	KBTBD12	3	127642187	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	87410378	127642187	70380243	18	12129											
DGKG	1608	genome.wustl.edu	37	chr3	185867916	185867916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttctcaacgagaagAagctgctcttctggggaggc	11	11	4	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr3:185867916A>G	ENST00000265022.3	-	25	2878	c.2339T>C	c.(2338-2340)tTc>tCc	p.F780S	DGKG_ENST00000544847.1_Missense_Mutation_p.F721S|DGKG_ENST00000447054.1_Intron|DGKG_ENST00000382164.4_Missense_Mutation_p.F741S|DGKG_ENST00000344484.4_Missense_Mutation_p.F755S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	780					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CAACGAGAAGAAGCTGCTCTT	0.438																																																	0								ENSG00000058866						82	71	75					3																	185867916		2203	4300	6503	DGKG	SO:0001583	missense	0			-	HGNC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2339T>C	3.37:g.185867916A>G	ENSP00000265022:p.Phe780Ser	Somatic	0	44	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.F780S	ENST00000265022.3	37	c.2339	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268553	0.59540	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	D;D;D;D	0.84589	-1.71;-1.69;-1.87;-1.54	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	L	0.45352	1.415	0.54753	D	0.999987	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;D	0.78314	0.991;0.991;0.991;0.979	D	0.88801	0.3285	10	0.46703	T	0.11	.	14.1509	0.65384	1.0:0.0:0.0:0.0	.	721;755;741;780	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	S	780;755;741;721	ENSP00000265022:F780S;ENSP00000339777:F755S;ENSP00000371599:F741S;ENSP00000440507:F721S	ENSP00000265022:F780S	F	-	2	0	DGKG	187350610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.079000	0.71291	2.330000	0.79161	0.528000	0.53228	TTC	-	NULL		0.438	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	protein_coding	OTTHUMT00000344800.3	A		-		185867916	-1	no_errors	ENST00000265022	ensembl	human	known	74_37	missense	SNP	1.000	G	G	185867916	A	G	185867916	3	3	173	1	0	0	0	0	1	0	0	0	4471	246	9	5	40	5	DGKG	3	185867916	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09	58225729	185867916	12154514	19	12130											
COPS4	51138	genome.wustl.edu	37	chr4	83987617	83987617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttggacagagctgttAttgaacacaatttgttgtct	9	7	2	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr4:83987617A>T	ENST00000264389.2	+	8	1048	c.913A>T	c.(913-915)Att>Ttt	p.I305F	COPS4_ENST00000511653.1_Missense_Mutation_p.I305F|COPS4_ENST00000503682.1_Missense_Mutation_p.I337F|COPS4_ENST00000509093.1_Missense_Mutation_p.I305F	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	305	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CAGAGCTGTTATTGAACACAA	0.328																																																	0								ENSG00000138663						89	94	92					4																	83987617		2203	4296	6499	COPS4	SO:0001583	missense	0			-	HGNC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.913A>T	4.37:g.83987617A>T	ENSP00000264389:p.Ile305Phe	Somatic	0	108	0		0.655363380285002	157	15.59	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	103	15.57	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP							pfam_PCI_dom,smart_PCI_dom	p.I305F	ENST00000264389.2	37	c.913	CCDS3600.1	4	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237480	0.58886	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.23	5.23	0.72850	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.47078	1.49	0.80722	D	1	B;B;B;B	0.24675	0.007;0.044;0.012;0.109	B;B;B;B	0.33568	0.016;0.037;0.011;0.166	T	0.22661	-1.0210	10	0.46703	T	0.11	-11.2314	15.2853	0.73822	1.0:0.0:0.0:0.0	.	305;337;305;305	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	F	305;305;193;337;305	ENSP00000425976:I305F;ENSP00000264389:I305F;ENSP00000425486:I193F;ENSP00000424791:I337F;ENSP00000424655:I305F	ENSP00000264389:I305F	I	+	1	0	COPS4	84206641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.797000	0.91882	2.201000	0.70794	0.533000	0.62120	ATT	-	pfam_PCI_dom,smart_PCI_dom		0.328	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS4	protein_coding	OTTHUMT00000252643.1	A		-		83987617	1	no_errors	ENST00000264389	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83987617	A	T	83987617	3	4	173	1	0	0	0	0	1	0	0	0	3737	449	16	5	943	5	COPS4	4	83987617	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09		83987617	107166659	20	12131											
SPATA5	166378	genome.wustl.edu	37	chr4	123949450	123949450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcgaatgggtattcagcCacctaaaggagttcttctct	8	10	3	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr4:123949450C>T	ENST00000274008.4	+	11	2048	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	660					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GGTATTCAGCCACCTAAAGGA	0.433																																																	0								ENSG00000145375						132	128	129					4																	123949450		2203	4300	6503	SPATA5	SO:0001583	missense	0			-	HGNC	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1979C>T	4.37:g.123949450C>T	ENSP00000274008:p.Pro660Leu	Somatic	0	89	0		0.655363380285002	9	25	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	32.31	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.P660L	ENST00000274008.4	37	c.1979	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.090222	0.94149	.	.	ENSG00000145375	ENST00000274008	D	0.95377	-3.69	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.67725	0.953;0.802	D	0.98611	1.0663	10	0.87932	D	0	-18.5544	20.0308	0.97536	0.0:1.0:0.0:0.0	.	660;660	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	660	ENSP00000274008:P660L	ENSP00000274008:P660L	P	+	2	0	SPATA5	124168900	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.635000	0.67841	2.732000	0.93576	0.585000	0.79938	CCA	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.433	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	protein_coding	OTTHUMT00000256714.2	C	NM_145207	-		123949450	1	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123949450	C	T	123949450	3	4	173	1	0	0	0	0	1	0	0	0	15018	594	21	2	2021	2	SPATA5	4	123949450	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	39961833	123949450	67204826	21	12132											
FGG	2266	genome.wustl.edu	37	chr4	155526029	155526029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtcatattctgtttccGcagggtgctctggtctgacc	12	10	4	2	rs141597421		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr4:155526029G>A	ENST00000336098.3	-	9	1357	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	FGG_ENST00000407946.1_Missense_Mutation_p.A448V|FGG_ENST00000404648.3_Intron|FGG_ENST00000405164.1_Intron	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	440					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTGTTTCCGCAGGGTGCTC	0.423																																																	0								ENSG00000171557	A	,VAL/ALA	0,4406		0,0,2203	183	177	179		,1319	-0.6	0	4	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	FGG	NM_000509.4,NM_021870.2	,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,440/454	155526029	1,13005	2203	4300	6503	FGG	SO:0001583	missense	0			-	HGNC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1319C>T	4.37:g.155526029G>A	ENSP00000336829:p.Ala440Val	Somatic	0	76	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	75	15.73	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A440V	ENST00000336098.3	37	c.1319	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	g	0.293	-0.978712	0.02197	0.0	1.16E-4	ENSG00000171557	ENST00000336098;ENST00000407946	T;T	0.57107	0.47;0.42	4.85	-0.6	0.11642	.	0.432575	0.19944	N	0.102572	T	0.19967	0.0480	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	0.22034	-1.0228	10	0.02654	T	1	.	3.0702	0.06227	0.3715:0.3734:0.1586:0.0966	.	448;440	C9JC84;P02679	.;FIBG_HUMAN	V	440;448	ENSP00000336829:A440V;ENSP00000384552:A448V	ENSP00000336829:A440V	A	-	2	0	FGG	155745479	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.299000	0.08254	-0.411000	0.07530	-1.852000	0.00566	GCG	-	NULL		0.423	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	protein_coding	OTTHUMT00000317581.1	G	NM_021870	rs141597421		155526029	-1	no_errors	ENST00000336098	ensembl	human	known	74_37	missense	SNP	0.000	A	A	155526029	G	A	155526029	3	1	173	1	0	0	0	0	1	0	0	0	5872	1087	38	1	65	1	FGG	4	155526029	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	31576579	155526029	35628247	22	12133											
DDX60	55601	genome.wustl.edu	37	chr4	169196590	169196590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtattgcagttggaacCgagctggcccaatgccaact	10	12	0	0	rs574811561		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr4:169196590C>T	ENST00000393743.3	-	16	2501	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737					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.R737Q(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)		CAGTTGGAACCGAGCTGGCCC	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		15607	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	endometrium(2)						ENSG00000137628						101	98	99					4																	169196590		2203	4300	6503	DDX60	SO:0001583	missense	0			-	HGNC	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.2210G>A	4.37:g.169196590C>T	ENSP00000377344:p.Arg737Gln	Somatic	0	104	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99	Q6PK35|Q9NVE3	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R737Q	ENST00000393743.3	37	c.2210	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717358	0.68844	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	5.37	3.65	0.41850	.	0.102711	0.43110	N	0.000614	T	0.28665	0.0710	L	0.32530	0.975	0.29601	N	0.847719	D	0.89917	1.0	D	0.87578	0.998	T	0.06303	-1.0834	10	0.40728	T	0.16	.	12.3977	0.55395	0.0:0.8661:0.0:0.1339	.	737	Q8IY21	DDX60_HUMAN	Q	737	ENSP00000377344:R737Q	ENSP00000377344:R737Q	R	-	2	0	DDX60	169433165	0.980000	0.34600	0.431000	0.26735	0.718000	0.41266	2.491000	0.45303	0.748000	0.32831	0.563000	0.77884	CGG	-	NULL		0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	protein_coding	OTTHUMT00000364622.1	C	NM_017631	-		169196590	-1	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	SNP	0.978	T	T	169196590	C	T	169196590	3	4	173	1	0	0	0	0	1	0	0	0	4380	652	23	1	3020	1	DDX60	4	169196590	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	13670561	169196590	21957686	23	12134											
UGT3A2	167127	genome.wustl.edu	37	chr5	36039752	36039752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggtgttcaccatggagCccaaggtcacaaggacaaaa	11	10	2	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:36039752C>T	ENST00000282507.3	-	5	1003	c.902G>A	c.(901-903)gGc>gAc	p.G301D	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G267D|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	301					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCATGGAGCCCAAGGTCAC	0.458																																																	0								ENSG00000168671						93	87	89					5																	36039752		2203	4300	6503	UGT3A2	SO:0001583	missense	0			-	HGNC		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.902G>A	5.37:g.36039752C>T	ENSP00000282507:p.Gly301Asp	Somatic	0	66	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	68	21.84	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.G301D	ENST00000282507.3	37	c.902	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783052	0.49891	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	D;D	0.96104	-3.91;-3.91	3.18	3.18	0.36537	.	0.000000	0.64402	D	0.000001	D	0.98510	0.9503	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98888	1.0772	10	0.87932	D	0	.	14.2717	0.66155	0.0:1.0:0.0:0.0	.	267;301	E9PFK7;Q3SY77	.;UD3A2_HUMAN	D	301;267	ENSP00000282507:G301D;ENSP00000427404:G267D	ENSP00000282507:G301D	G	-	2	0	UGT3A2	36075509	0.998000	0.40836	0.561000	0.28357	0.074000	0.17049	4.163000	0.58183	2.077000	0.62373	0.591000	0.81541	GGC	-	pfam_UDP_glucos_trans		0.458	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	protein_coding	OTTHUMT00000253771.2	C	NM_174914	-		36039752	-1	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	SNP	0.999	T	T	36039752	C	T	36039752	3	4	173	1	0	0	0	0	1	0	0	0	16971	739	26	2	681	2	UGT3A2	5	36039752	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09		36039752	144875508	24	12135											
WDR70	55100	genome.wustl.edu	37	chr5	37443374	37443374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggatccctcaggtgccCgtttggtgacaggaggatat	14	9	2	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:37443374C>T	ENST00000265107.4	+	7	742	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	WDR70_ENST00000504564.1_Missense_Mutation_p.R196C	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	196							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCAGGTGCCCGTTTGGTGAC	0.418																																																	0								ENSG00000082068						103	89	94					5																	37443374		2203	4300	6503	WDR70	SO:0001583	missense	0			-	HGNC	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.586C>T	5.37:g.37443374C>T	ENSP00000265107:p.Arg196Cys	Somatic	0	44	0		0.655363380285002	9	73.53	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	22	57.69	Q9H053	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R196C	ENST00000265107.4	37	c.586	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834944	0.91036	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;T	0.60672	0.17;0.17	4.91	4.91	0.64330	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	0.80076	0.4557	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.83986	0.0335	10	0.72032	D	0.01	0.4523	18.4538	0.90713	0.0:1.0:0.0:0.0	.	196;196	D6RIW8;Q9NW82	.;WDR70_HUMAN	C	196	ENSP00000265107:R196C;ENSP00000425841:R196C	ENSP00000265107:R196C	R	+	1	0	WDR70	37479131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.437000	0.82529	0.491000	0.48974	CGT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.418	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	protein_coding	OTTHUMT00000368294.1	C	NM_018034	-		37443374	1	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37443374	C	T	37443374	3	4	173	1	0	0	0	0	1	0	0	0	17328	652	23	1	612	1	WDR70	5	37443374	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	1403622	37443374	143471886	25	12136											
RASA1	5921	genome.wustl.edu	37	chr5	86645033	86645033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcttaattcttacagttGgtcaagtctgcagttttctt	7	8	4	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:86645033G>A	ENST00000274376.6	+	8	1669	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	RASA1_ENST00000512763.1_Missense_Mutation_p.G202S|RASA1_ENST00000506290.1_Missense_Mutation_p.G203S|RASA1_ENST00000456692.2_Missense_Mutation_p.G192S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	369	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCTTACAGTTGGTCAAGTCTG	0.313																																																	0								ENSG00000145715						85	90	88					5																	86645033		2203	4300	6503	RASA1	SO:0001583	missense	0			-	HGNC		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1105G>A	5.37:g.86645033G>A	ENSP00000274376:p.Gly369Ser	Somatic	0	54	0		0.655363380285002	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B2R6W3|Q9UDI1	Missense_Mutation	SNP							pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.G369S	ENST00000274376.6	37	c.1105	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.532278	0.96446	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.78	5.78	0.91487	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	L	0.52759	1.655	0.80722	D	1	P;P;P;P;D	0.89917	0.823;0.823;0.823;0.891;1.0	P;P;P;P;D	0.97110	0.792;0.792;0.792;0.903;1.0	D	0.89126	0.3506	10	0.56958	D	0.05	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	203;202;203;192;369	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	369;402;192;202;203	ENSP00000274376:G369S;ENSP00000411221:G192S;ENSP00000422008:G202S;ENSP00000420905:G203S	ENSP00000274376:G369S	G	+	1	0	RASA1	86680789	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.832000	0.99423	2.723000	0.93209	0.585000	0.79938	GGT	-	pfam_SH2,smart_SH2,pfscan_SH2		0.313	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	protein_coding	OTTHUMT00000369729.1	G	NM_002890	-		86645033	1	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86645033	G	A	86645033	3	1	173	1	0	0	0	0	1	0	0	0	13068	1348	47	2	1147	2	RASA1	5	86645033	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	49201659	86645033	94270227	26	12137											
RASA1	5921	genome.wustl.edu	37	chr5	86645158	86645158	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgccaaacaatcagtttatGatgggaggccggtattataa	10	7	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:86645158G>A	ENST00000274376.6	+	8	1794	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	RASA1_ENST00000512763.1_Missense_Mutation_p.M243I|RASA1_ENST00000506290.1_Missense_Mutation_p.M244I|RASA1_ENST00000456692.2_Missense_Mutation_p.M233I	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	410	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATCAGTTTATGATGGGAGGCC	0.338																																																	0								ENSG00000145715						65	69	68					5																	86645158		2201	4299	6500	RASA1	SO:0001583	missense	0			-	HGNC		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1230G>A	5.37:g.86645158G>A	ENSP00000274376:p.Met410Ile	Somatic	0	92	0		0.655363380285002	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	80	24.53	B2R6W3|Q9UDI1	Missense_Mutation	SNP							pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.M410I	ENST00000274376.6	37	c.1230	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385294	0.61956	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.78	5.78	0.91487	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	N	0.04508	-0.205	0.80722	D	1	B;B;B;B;B	0.15719	0.001;0.001;0.001;0.001;0.014	B;B;B;B;B	0.16722	0.006;0.006;0.006;0.005;0.016	T	0.70831	-0.4765	10	0.45353	T	0.12	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	244;243;244;233;410	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	I	410;443;233;243;244	ENSP00000274376:M410I;ENSP00000411221:M233I;ENSP00000422008:M243I;ENSP00000420905:M244I	ENSP00000274376:M410I	M	+	3	0	RASA1	86680914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.841000	0.86834	2.723000	0.93209	0.585000	0.79938	ATG	-	pfam_SH2,smart_SH2,pfscan_SH2		0.338	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	protein_coding	OTTHUMT00000369729.1	G	NM_002890	-		86645158	1	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	SNP	1.000	A	A	86645158	G	A	86645158	3	1	173	1	0	0	0	0	1	0	0	0	13068	1290	45	2	1272	2	RASA1	5	86645158	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	125	86645158	94270102	27	12138											
GPR98	84059	genome.wustl.edu	37	chr5	89990459	89990459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaatggcgtgttgttggtgGaacagctactgaaggtttag	15	5	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:89990459G>A	ENST00000405460.2	+	33	7982	c.7886G>A	c.(7885-7887)gGa>gAa	p.G2629E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2629	Calx-beta 18. {ECO:0000255}.				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)			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)		GTTGTTGGTGGAACAGCTACT	0.483																																																	0								ENSG00000164199						136	142	140					5																	89990459		2023	4168	6191	GPR98	SO:0001583	missense	0			-	HGNC	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.7886G>A	5.37:g.89990459G>A	ENSP00000384582:p.Gly2629Glu	Somatic	0	46	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G2629E	ENST00000405460.2	37	c.7886	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.782668|4.782668	0.90282|0.90282	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.44083	.|0.93	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73257|0.73257	0.3564|0.3564	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.77859|0.77859	-0.2431|-0.2431	5|10	.|0.72032	.|D	.|0.01	.|.	20.0827|20.0827	0.97786|0.97786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2629;2629	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	K|E	195|2629	.|ENSP00000384582:G2629E	.|ENSP00000296619:G2629E	E|G	+|+	1|2	0|0	GPR98|GPR98	90026215|90026215	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.923000|0.923000	0.55619|0.55619	9.574000|9.574000	0.98184|0.98184	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GAA|GGA	-	pfam_Calx_beta,smart_Calx_beta		0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		89990459	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89990459	G	A	89990459	3	1	173	1	0	0	0	0	1	0	0	0	6723	1174	41	2	8016	2	GPR98	5	89990459	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	3345301	89990459	90924801	28	12139											
FAM174A	345757	genome.wustl.edu	37	chr5	99871501	99871501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggcagcaaccctgtggcCgggcttgagacggacgatca	14	11	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:99871501C>T	ENST00000312637.4	+	1	493	c.267C>T	c.(265-267)gcC>gcT	p.A89A	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	89						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACCCTGTGGCCGGGCTTGAGA	0.721																																																	0								ENSG00000174132						13	16	15					5																	99871501		2193	4291	6484	FAM174A	SO:0001819	synonymous_variant	0			-	HGNC	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"transmembrane protein 157"	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.267C>T	5.37:g.99871501C>T		Somatic	0	38	0		0.655363380285002	43	20	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	A8K0H4	Silent	SNP							pfam_DUF1180	p.A89	ENST00000312637.4	37	c.267	CCDS4090.1	5																																																																																			-	pfam_DUF1180		0.721	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	protein_coding	OTTHUMT00000250631.2	C	NM_198507	-		99871501	1	no_errors	ENST00000312637	ensembl	human	known	74_37	silent	SNP	0.220	T	T	99871501	C	T	99871501	2	4	173	1	0	0	0	0	0	0	0	1	5497	639	23	1		1	FAM174A	5	99871501	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	9881042	99871501	81043759	29	12140											
WDR36	134430	genome.wustl.edu	37	chr5	110438084	110438084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatggaaagttggagtgAcagctcttcagcaggttagt	14	6	2	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:110438084A>G	ENST00000513710.2	+	6	755	c.751A>G	c.(751-753)Aca>Gca	p.T251A	WDR36_ENST00000506538.2_Missense_Mutation_p.T251A|WDR36_ENST00000505303.1_Missense_Mutation_p.T195A			Q8NI36	WDR36_HUMAN	WD repeat domain 36	251					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGTTGGAGTGACAGCTCTTCA	0.308																																																	0								ENSG00000134987						68	72	71					5																	110438084		2202	4298	6500	WDR36	SO:0001583	missense	0			-	HGNC	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.751A>G	5.37:g.110438084A>G	ENSP00000424628:p.Thr251Ala	Somatic	0	140	0		0.655363380285002	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	89	24.58	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP							pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T251A	ENST00000513710.2	37	c.751	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725803	0.89298	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303;ENST00000504122	T;T;T;T	0.39229	1.37;1.37;3.1;1.09	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046276	0.85682	D	0.000000	T	0.65575	0.2704	M	0.86178	2.8	0.80722	D	1	D	0.59767	0.986	P	0.60286	0.872	T	0.72669	-0.4223	10	0.87932	D	0	-19.0506	15.6163	0.76769	1.0:0.0:0.0:0.0	.	251	Q8NI36	WDR36_HUMAN	A	251;251;195;122	ENSP00000423067:T251A;ENSP00000424628:T251A;ENSP00000422158:T195A;ENSP00000426509:T122A	ENSP00000426509:T122A	T	+	1	0	WDR36	110465983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.601000	0.74136	2.077000	0.62373	0.528000	0.53228	ACA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.308	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	protein_coding	OTTHUMT00000373504.3	A	NM_139281	-		110438084	1	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	SNP	1.000	G	G	110438084	A	G	110438084	3	3	173	1	0	0	0	0	1	0	0	0	17297	275	10	5	773	5	WDR36	5	110438084	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09	10566583	110438084	70477176	30	12141											
DOCK2	1794	genome.wustl.edu	37	chr5	169469044	169469044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcagtgtgcatcacagGtcatgcagacaggccagcag	13	10	2	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:169469044G>A	ENST00000256935.8	+	38	3864	c.3784G>A	c.(3784-3786)Gtc>Atc	p.V1262I	DOCK2_ENST00000520908.1_Missense_Mutation_p.V754I|DOCK2_ENST00000540750.1_Missense_Mutation_p.V323I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1262	DHR-2.|Interaction with CRKL.				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)			TGCATCACAGGTCATGCAGAC	0.537																																																	0								ENSG00000134516						72	60	64					5																	169469044		2203	4300	6503	DOCK2	SO:0001583	missense	0			-	HGNC	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.3784G>A	5.37:g.169469044G>A	ENSP00000256935:p.Val1262Ile	Somatic	0	32	0		0.655363380285002	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q2M3I0|Q96AK7	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.V1262I	ENST00000256935.8	37	c.3784	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995732	0.54147	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.67171	-0.25;-0.25;4.57	5.18	4.28	0.50868	.	0.068809	0.64402	D	0.000015	T	0.52565	0.1742	N	0.25201	0.72	0.29588	N	0.848612	B;B	0.34372	0.451;0.013	B;B	0.30179	0.112;0.014	T	0.56829	-0.7914	10	0.62326	D	0.03	.	15.6424	0.77016	0.0:0.1379:0.8621:0.0	.	754;1262	E7ERW7;Q92608	.;DOCK2_HUMAN	I	1262;754;323	ENSP00000256935:V1262I;ENSP00000429283:V754I;ENSP00000438827:V323I	ENSP00000256935:V1262I	V	+	1	0	DOCK2	169401622	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.170000	0.58229	1.249000	0.43950	0.561000	0.74099	GTC	-	NULL		0.537	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	G	NM_004946	-		169469044	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169469044	G	A	169469044	3	1	173	1	0	0	0	0	1	0	0	0	4689	1261	44	2	3934	2	DOCK2	5	169469044	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	59030960	169469044	11446216	31	12142											
LCP2	3937	genome.wustl.edu	37	chr5	169689718	169689718	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtggtaaaggaggcttttGaatcttgggtaaatgctccc	13	7	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr5:169689718G>T	ENST00000046794.5	-	13	1462	c.847C>A	c.(847-849)Caa>Aaa	p.Q283K	LCP2_ENST00000521416.1_Missense_Mutation_p.Q78K	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	283					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.Q283*(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAGGCTTTTGAATCTTGGGT	0.502																																																	2	Substitution - Nonsense(2)	cervix(2)						ENSG00000043462						87	86	86					5																	169689718		1934	4144	6078	LCP2	SO:0001583	missense	0			-	HGNC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.847C>A	5.37:g.169689718G>T	ENSP00000046794:p.Gln283Lys	Somatic	0	86	0		0.655363380285002	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8KA25|Q53XV4	Missense_Mutation	SNP							pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.Q283K	ENST00000046794.5	37	c.847	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.874707	0.02550	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.44482	0.92;0.95	5.65	4.75	0.60458	.	0.571382	0.18013	N	0.154485	T	0.38374	0.1038	L	0.56769	1.78	0.26800	N	0.96922	B;B;B	0.32717	0.381;0.381;0.258	B;B;B	0.32624	0.103;0.149;0.07	T	0.27434	-1.0074	9	.	.	.	-2.4478	9.7824	0.40656	0.0991:0.0:0.9009:0.0	.	78;283;283	E7ESF6;A8KA25;Q13094	.;.;LCP2_HUMAN	K	283;78;50	ENSP00000046794:Q283K;ENSP00000428871:Q78K	.	Q	-	1	0	LCP2	169622296	0.714000	0.27936	0.264000	0.24511	0.222000	0.24845	3.796000	0.55507	1.320000	0.45209	0.655000	0.94253	CAA	-	NULL		0.502	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	protein_coding	OTTHUMT00000371727.1	G	NM_005565	-		169689718	-1	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	SNP	0.811	T	T	169689718	G	T	169689718	3	4	173	1	0	0	0	0	1	0	0	0	8694	1299	45	3	790	3	LCP2	5	169689718	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	220674	169689718	11225542	32	12143											
BTN1A1	696	genome.wustl.edu	37	chr6	26505348	26505348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgcttcagtgatcaTcagagacacttctgcgaaaa	10	9	4	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr6:26505348T>C	ENST00000244513.6	+	3	689	c.623T>C	c.(622-624)aTc>aCc	p.I208T		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	208	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTGATCATCAGAGACACT	0.453																																																	0								ENSG00000124557						111	112	112					6																	26505348		2203	4300	6503	BTN1A1	SO:0001583	missense	0			-	HGNC	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.623T>C	6.37:g.26505348T>C	ENSP00000244513:p.Ile208Thr	Somatic	0	41	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.I208T	ENST00000244513.6	37	c.623	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146987	0.57151	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.10005	2.92	5.52	5.52	0.82312	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.328311	0.26435	N	0.024391	T	0.13884	0.0336	M	0.88450	2.955	0.09310	N	1	P	0.37423	0.594	B	0.43052	0.406	T	0.08166	-1.0735	10	0.87932	D	0	.	12.0074	0.53268	0.0:0.0:0.0:1.0	.	208	Q13410	BT1A1_HUMAN	T	208	ENSP00000244513:I208T	ENSP00000244513:I208T	I	+	2	0	BTN1A1	26613327	0.293000	0.24371	0.010000	0.14722	0.845000	0.48019	4.609000	0.61148	2.085000	0.62840	0.533000	0.62120	ATC	-	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.453	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	protein_coding	OTTHUMT00000043776.1	T	NM_001732	-		26505348	1	no_errors	ENST00000244513	ensembl	human	known	74_37	missense	SNP	0.013	C	C	26505348	T	C	26505348	3	2	173	1	0	0	0	0	1	0	0	0	1561	1435	50	5	633	5	BTN1A1	6	26505348	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09		26505348	144609719	33	12144											
TULP4	56995	genome.wustl.edu	37	chr6	158915857	158915857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggcttggctgctttcCtgccaaccaacctcggtgca	11	13	0	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr6:158915857C>T	ENST00000367097.3	+	11	3206	c.1849C>T	c.(1849-1851)Ctg>Ttg	p.L617L	TULP4_ENST00000367094.2_Silent_p.L617L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	617					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGCTGCTTTCCTGCCAACCAA	0.438																																																	0								ENSG00000130338						131	118	123					6																	158915857		2203	4300	6503	TULP4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1849C>T	6.37:g.158915857C>T		Somatic	0	47	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP							pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L617	ENST00000367097.3	37	c.1849	CCDS34561.1	6																																																																																			-	superfamily_Tubby_C-like		0.438	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	protein_coding	OTTHUMT00000042869.1	C	NM_020245	-		158915857	1	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	SNP	1.000	T	T	158915857	C	T	158915857	2	4	173	1	0	0	0	0	0	0	0	1	16783	680	24	2		2	TULP4	6	158915857	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	132410509	158915857	12199210	34	12145											
ABCA13	154664	genome.wustl.edu	37	chr7	48685086	48685086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccatccactgacagtcaccAcacacatcacttgcccatct	3	18	3	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr7:48685086A>T	ENST00000435803.1	+	62	15179	c.15155A>T	c.(15154-15156)cAc>cTc	p.H5052L	ABCA13_ENST00000544596.1_Missense_Mutation_p.H782L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	5052					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACAGTCACCACACACATCAC	0.373																																																	0								ENSG00000179869						62	62	62					7																	48685086		2041	4212	6253	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.15155A>T	7.37:g.48685086A>T	ENSP00000411096:p.His5052Leu	Somatic	0	56	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H5052L	ENST00000435803.1	37	c.15155	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052476	0.36181	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.86432	-1.94;-2.12;-2.08	5.43	-0.989	0.10242	.	0.938768	0.08793	N	0.892959	T	0.76456	0.3990	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29432	0.034;0.131;0.244	B;B;B	0.25140	0.025;0.04;0.058	T	0.58165	-0.7684	10	0.16896	T	0.51	.	9.2561	0.37584	0.5672:0.0:0.4328:0.0	.	782;2754;5052	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	5052;825;782	ENSP00000411096:H5052L;ENSP00000391042:H825L;ENSP00000442634:H782L	ENSP00000391042:H825L	H	+	2	0	ABCA13	48655632	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.016000	0.13377	-0.091000	0.12440	0.533000	0.62120	CAC	-	NULL		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	A	NM_152701	-		48685086	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.000	T	T	48685086	A	T	48685086	3	4	173	1	0	0	0	0	1	0	0	0	31	159	6	5	15230	5	ABCA13	7	48685086	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09		48685086	110453577	35	12146											
ZNF277	11179	genome.wustl.edu	37	chr7	111846832	111846832	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaccgtgatgggagcTgcagcacagtcgggggtgta	18	7	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr7:111846832T>A	ENST00000361822.3	+	1	190	c.61T>A	c.(61-63)Tgc>Agc	p.C21S	DOCK4_ENST00000437633.1_5'Flank|ZNF277_ENST00000450657.1_Missense_Mutation_p.C21S|DOCK4_ENST00000428084.1_5'Flank|DOCK4_ENST00000476846.1_5'Flank|ZNF277_ENST00000421043.1_Missense_Mutation_p.C21S	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	21					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGATGGGAGCTGCAGCACAGT	0.627																																																	0								ENSG00000198839						41	43	42					7																	111846832		2203	4300	6503	ZNF277	SO:0001583	missense	0			-	HGNC	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.61T>A	7.37:g.111846832T>A	ENSP00000354501:p.Cys21Ser	Somatic	0	175	0		0.655363380285002	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	94	22.31	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C21S	ENST00000361822.3	37	c.61	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	T	7.882	0.730424	0.15507	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T	0.27720	1.68;1.65	5.25	-0.155	0.13395	.	0.844233	0.10226	N	0.700250	T	0.11281	0.0275	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	0.30851	-0.9964	10	0.18710	T	0.47	1.3763	0.721	0.00941	0.1779:0.3792:0.1543:0.2886	.	21;21	Q9NRM2;G5E9M4	ZN277_HUMAN;.	S	21	ENSP00000354501:C21S;ENSP00000402292:C21S	ENSP00000354501:C21S	C	+	1	0	ZNF277	111634068	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.022000	0.12480	0.084000	0.17077	-1.074000	0.02243	TGC	-	NULL		0.627	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	protein_coding	OTTHUMT00000316843.2	T	NM_021994	-		111846832	1	no_errors	ENST00000361822	ensembl	human	known	74_37	missense	SNP	0.000	A	A	111846832	T	A	111846832	3	1	173	1	0	0	0	0	1	0	0	0	17819	1580	55	5	63	5	ZNF277	7	111846832	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	63161746	111846832	47291831	36	12147											
NOBOX	135935	genome.wustl.edu	37	chr7	144096231	144096231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctcactgggttgggtGggggccaaagtctggtcaga	16	10	3	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr7:144096231G>A	ENST00000467773.1	-	8	1280	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	NOBOX_ENST00000223140.5_Silent_p.P310P|NOBOX_ENST00000483238.1_Silent_p.P395P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	427	Pro-rich.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TGGGTTGGGTGGGGGCCAAAG	0.602																																																	0								ENSG00000106410						14	15	15					7																	144096231		1856	3953	5809	NOBOX	SO:0001819	synonymous_variant	0			-	HGNC			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1281C>T	7.37:g.144096231G>A		Somatic	0	89	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	43	58.65	A6NCD3|A8MZN5	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P427	ENST00000467773.1	37	c.1281		7																																																																																			-	NULL		0.602	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	protein_coding	OTTHUMT00000350095.1	G	XM_001134420	-		144096231	-1	no_errors	ENST00000467773	ensembl	human	known	74_37	silent	SNP	0.000	A	A	144096231	G	A	144096231	2	1	173	1	0	0	0	0	0	0	0	1	10514	1335	47	2		2	NOBOX	7	144096231	Silent	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	32249399	144096231	15042432	37	12148											
AGAP3	116988	genome.wustl.edu	37	chr7	150784064	150784064	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatccagcgcttcgagtccgTgcatcccaatatctacgcca	8	15	1	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr7:150784064T>A	ENST00000397238.2	+	1	236	c.236T>A	c.(235-237)gTg>gAg	p.V79E	AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000479901.1_Missense_Mutation_p.V79E|AGAP3_ENST00000473312.1_Missense_Mutation_p.V79E	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	43					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TTCGAGTCCGTGCATCCCAAT	0.667																																																	0								ENSG00000133612						31	36	34					7																	150784064		2183	4298	6481	AGAP3	SO:0001583	missense	0			-	HGNC	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.236T>A	7.37:g.150784064T>A	ENSP00000380413:p.Val79Glu	Somatic	0	38	0		0.655363380285002	38	22.45	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.V79E	ENST00000397238.2	37	c.236	CCDS43681.1	7	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867847	0.72065	.	.	ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355	D;D;T	0.92495	-2.91;-3.05;-1.25	2.42	1.21	0.21127	.	0.000000	0.44097	U	0.000495	D	0.94301	0.8169	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;P;D	0.70227	0.959;0.882;0.968	D	0.91774	0.5430	10	0.87932	D	0	.	5.5351	0.17007	0.0:0.1535:0.0:0.8465	.	79;79;79	C9J975;Q96P47-4;E9PAL8	.;.;.	E	79;79;79;43	ENSP00000418921:V79E;ENSP00000418125:V79E;ENSP00000380413:V79E	ENSP00000334157:V43E	V	+	2	0	AGAP3	150414997	1.000000	0.71417	0.759000	0.31340	0.883000	0.51084	6.971000	0.76105	0.173000	0.19788	0.155000	0.16302	GTG	-	NULL		0.667	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP3	protein_coding	OTTHUMT00000351908.3	T	NM_031946	-		150784064	1	no_errors	ENST00000397238	ensembl	human	known	74_37	missense	SNP	1.000	A	A	150784064	T	A	150784064	3	1	173	1	0	0	0	0	1	0	0	0	369	1696	59	5	238	5	AGAP3	7	150784064	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	6687833	150784064	8354599	38	12149											
DPP6	1804	genome.wustl.edu	37	chr7	154667715	154667715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtggtggtaaagtgtgaCggccgtggcagcggcttcca	18	9	0	1	rs372493523		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr7:154667715C>T	ENST00000377770.3	+	20	2124	c.1983C>T	c.(1981-1983)gaC>gaT	p.D661D	DPP6_ENST00000332007.3_Silent_p.D599D|DPP6_ENST00000404039.1_Silent_p.D597D|DPP6_ENST00000427557.1_Silent_p.D554D			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	661					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TAAAGTGTGACGGCCGTGGCA	0.657																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226	C	,,	0,4116		0,0,2058	27	34	31		1437,1356,1356	-3.8	1	7		31	1,8373		0,1,4186	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	0,1,6244	TT,TC,CC		0.0119,0.0,0.0080	,,	479/684,452/657,452/657	154667715	1,12489	2058	4187	6245	DPP6	SO:0001819	synonymous_variant	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1983C>T	7.37:g.154667715C>T		Somatic	0	125	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	75	19.35		Silent	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.D661	ENST00000377770.3	37	c.1983		7																																																																																			-	pfam_Peptidase_S9		0.657	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	C	NM_130797	-		154667715	1	no_errors	ENST00000377770	ensembl	human	known	74_37	silent	SNP	0.989	T	T	154667715	C	T	154667715	2	4	173	1	0	0	0	0	0	0	0	1	4732	535	19	1		1	DPP6	7	154667715	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	3883651	154667715	4470948	39	12150											
RP1	6101	genome.wustl.edu	37	chr8	55537285	55537285	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttattctgtttcttctgaGaaaacacataataatgattg	5	5	3	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr8:55537285G>T	ENST00000220676.1	+	4	991	c.843G>T	c.(841-843)gaG>gaT	p.E281D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	281					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)			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)			TTTCTTCTGAGAAAACACATA	0.313																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						62	68	66					8																	55537285		2203	4297	6500	RP1	SO:0001583	missense	0			-	HGNC	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.843G>T	8.37:g.55537285G>T	ENSP00000220676:p.Glu281Asp	Somatic	0	46	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E281D	ENST00000220676.1	37	c.843	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	0.674	-0.800832	0.02841	.	.	ENSG00000104237	ENST00000220676	T	0.22134	1.97	5.19	1.27	0.21489	.	0.524252	0.18691	N	0.133880	T	0.07413	0.0187	N	0.10916	0.065	0.29599	N	0.847791	B	0.02656	0.0	B	0.04013	0.001	T	0.34650	-0.9820	10	0.08599	T	0.76	.	2.8389	0.05523	0.1275:0.2593:0.4262:0.187	.	281	P56715	RP1_HUMAN	D	281	ENSP00000220676:E281D	ENSP00000220676:E281D	E	+	3	2	RP1	55699838	0.891000	0.30450	0.994000	0.49952	0.979000	0.70002	-0.168000	0.09925	-0.043000	0.13513	-0.165000	0.13383	GAG	-	NULL		0.313	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	G	NM_006269	-		55537285	1	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	SNP	0.988	T	T	55537285	G	T	55537285	3	4	173	1	0	0	0	0	1	0	0	0	13540	933	33	3	853	3	RP1	8	55537285	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09		55537285	90826737	40	12151											
TTC35	9694	genome.wustl.edu	37	chr8	109489027	109489027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggttaagtatacccaagGtggacttgaaaacctcgaac	9	9	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr8:109489027G>T	ENST00000220853.3	+	9	643	c.608G>T	c.(607-609)gGt>gTt	p.G203V	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	203						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TATACCCAAGGTGGACTTGAA	0.343																																																	0								ENSG00000104412						110	110	110					8																	109489027		2203	4300	6503	EMC2	SO:0001583	missense	0			-	HGNC	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.608G>T	8.37:g.109489027G>T	ENSP00000220853:p.Gly203Val	Somatic	0	61	0		0.655363380285002	99	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q8WUE1	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G203V	ENST00000220853.3	37	c.608	CCDS6309.1	8	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081779	0.55861	.	.	ENSG00000104412	ENST00000220853	D	0.81908	-1.55	6.06	6.06	0.98353	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90974	0.7162	M	0.88241	2.94	0.80722	D	1	P	0.51240	0.943	P	0.52823	0.71	D	0.91462	0.5190	10	0.66056	D	0.02	-13.1943	20.6397	0.99537	0.0:0.0:1.0:0.0	.	203	Q15006	TTC35_HUMAN	V	203	ENSP00000220853:G203V	ENSP00000220853:G203V	G	+	2	0	TTC35	109558203	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	9.216000	0.95154	2.880000	0.98712	0.650000	0.86243	GGT	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.343	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	protein_coding	OTTHUMT00000380717.1	G	NM_014673	-		109489027	1	no_errors	ENST00000220853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109489027	G	T	109489027	3	4	173	1	0	0	0	0	1	0	0	0	16710	1261	44	3	642	3	TTC35	8	109489027	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	53951742	109489027	36874995	41	12152											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110516561	110516561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttatgttttaggttcaAcatttgttggatttaagaat	7	2	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr8:110516561A>C	ENST00000378402.5	+	68	10938	c.10834A>C	c.(10834-10836)Aca>Cca	p.T3612P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3612					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)			TTTAGGTTCAACATTTGTTGG	0.294										HNSCC(38;0.096)																																							0								ENSG00000205038						73	71	72					8																	110516561		1816	4056	5872	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.10834A>C	8.37:g.110516561A>C	ENSP00000367655:p.Thr3612Pro	Somatic	0	66	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.T3612P	ENST00000378402.5	37	c.10834	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582970	0.65992	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.88431	-2.38;-2.15	5.71	5.71	0.89125	.	0.240153	0.33253	N	0.005113	D	0.90913	0.7144	M	0.81341	2.54	0.28232	N	0.92605	P	0.38395	0.629	B	0.43331	0.416	D	0.87964	0.2732	10	0.59425	D	0.04	.	13.9301	0.63989	1.0:0.0:0.0:0.0	.	3612	Q86WI1	PKHL1_HUMAN	P	3612;540	ENSP00000367655:T3612P;ENSP00000437376:T540P	ENSP00000367655:T3612P	T	+	1	0	PKHD1L1	110585737	0.998000	0.40836	0.999000	0.59377	0.964000	0.63967	4.720000	0.61944	2.171000	0.68590	0.533000	0.62120	ACA	-	NULL		0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	A	NM_177531	-		110516561	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	0.996	C	C	110516561	A	C	110516561	3	2	173	1	0	0	0	0	1	0	0	0	11974	43	2	5	11104	5	PKHD1L1	8	110516561	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09	1027534	110516561	35847461	42	12153											
GPAA1	8733	genome.wustl.edu	37	chr8	145139735	145139735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtctccatcggcctctAcatgcccgctgtcggcttct	8	17	3	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr8:145139735A>G	ENST00000355091.4	+	8	1242	c.1121A>G	c.(1120-1122)tAc>tGc	p.Y374C	GPAA1_ENST00000361036.6_Missense_Mutation_p.Y314C	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	374					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCGGCCTCTACATGCCCGCT	0.597																																																	0								ENSG00000197858						108	118	115					8																	145139735		2008	4175	6183	GPAA1	SO:0001583	missense	0			-	HGNC	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1121A>G	8.37:g.145139735A>G	ENSP00000347206:p.Tyr374Cys	Somatic	0	30	0		0.655363380285002	275	22.91	82	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	Q9NSS0|Q9UQ31	Missense_Mutation	SNP							pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.Y374C	ENST00000355091.4	37	c.1121	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118330	0.77323	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87551	0.2465	9	0.87932	D	0	-20.695	13.408	0.60924	1.0:0.0:0.0:0.0	.	374;314	O43292;O43292-2	GPAA1_HUMAN;.	C	374;314	.	ENSP00000347206:Y374C	Y	+	2	0	GPAA1	145211723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.356000	0.90085	2.046000	0.60703	0.533000	0.62120	TAC	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.597	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	protein_coding	OTTHUMT00000384070.1	A	NM_003801	-		145139735	1	no_errors	ENST00000355091	ensembl	human	known	74_37	missense	SNP	1.000	G	G	145139735	A	G	145139735	3	3	173	1	0	0	0	0	1	0	0	0	6589	391	14	5	1151	5	GPAA1	8	145139735	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09	34623174	145139735	1224287	43	12154											
TMEM2	23670	genome.wustl.edu	37	chr9	74365130	74365130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggttgcccggtcttctcGtctgatggaggtaaatttgg	14	7	3	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr9:74365130G>T	ENST00000377044.4	-	2	699	c.160C>A	c.(160-162)Cga>Aga	p.R54R	TMEM2_ENST00000377066.5_Silent_p.R54R	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	54					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CGGTCTTCTCGTCTGATGGAG	0.478																																																	0								ENSG00000135048						136	128	131					9																	74365130		2203	4300	6503	TMEM2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.160C>A	9.37:g.74365130G>T		Somatic	0	108	0		0.655363380285002	9	10	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	72	24.21	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP							pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.R54	ENST00000377044.4	37	c.160	CCDS6638.1	9																																																																																			-	NULL		0.478	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	protein_coding	OTTHUMT00000052618.2	G	NM_013390	-		74365130	-1	no_errors	ENST00000377044	ensembl	human	known	74_37	silent	SNP	1.000	T	T	74365130	G	T	74365130	2	4	173	1	0	0	0	0	0	0	0	1	16128	1153	40	3		3	TMEM2	9	74365130	Silent	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09		74365130	66848301	44	12155											
VPS13A	23230	genome.wustl.edu	37	chr9	79999548	79999550	+	Intron	DEL	TGA	TGA	-													atgactcacagtagcagtagTgatgatgatgatgatgatga					rs142234061|rs373635958		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr9:79999548_79999550delTGA	ENST00000360280.3	+	68	9449				VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_In_Frame_Del_p.D3089del	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTAGCAGTAGtgatgatgatgat	0.33																																																	0								ENSG00000197969																																			VPS13A	SO:0001627	intron_variant	0				HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9189+2545TGA>-	9.37:g.79999557_79999559delTGA		Somatic	0	20	0		0.655363380285002	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.D3083in_frame_del	ENST00000360280.3	37	c.9237_9239	CCDS6655.1	9																																																																																			-	NULL		0.33	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	TGA	NM_015186			79999550	1	no_errors	ENST00000357409	ensembl	human	known	74_37	in_frame_del	DEL	0.999:0.998:0.997	-	-	79999550	TGA	-	79999548	6	5	173	0	1	1	0	1	0	0	0	0	17196	1693	59	0		0	VPS13A	9	79999548	Intron	DEL	TGA	TCGA-K1-A6RV-01A-11D-A32I-09	5634418	79999548	61213883	45	12156											
YME1L1	10730	genome.wustl.edu	37	chr10	27403538	27403538	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggtcataactccaagcTaaaaccaaaaggaagaaagt	8	7	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr10:27403538T>C	ENST00000326799.3	-	19	2240		c.e19-2		YME1L1_ENST00000375972.3_Splice_Site|YME1L1_ENST00000376016.3_Splice_Site	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AACTCCAAGCTAAAACCAAAA	0.343																																																	0								ENSG00000136758						80	77	78					10																	27403538		2203	4300	6503	YME1L1	SO:0001630	splice_region_variant	0			-	HGNC	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.2092-2A>G	10.37:g.27403538T>C		Somatic	0	67	0		0.655363380285002	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Splice_Site	SNP							-	e19-2	ENST00000326799.3	37	c.2092-2	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686715	0.48097	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.648	0.77070	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	YME1L1	27443544	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	8.010000	0.88615	2.137000	0.66172	0.528000	0.53228	.	-	-		0.343	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	protein_coding	OTTHUMT00000047306.1	T	NM_139312	-	Intron	27403538	-1	no_errors	ENST00000326799	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	27403538	T	C	27403538	5	2	173	1	0	0	0	0	0	0	1	0	17494	1536	53	5	239	5	YME1L1	10	27403538	Splice_Site	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09		27403538	108131209	46	12157											
ATAD1	84896	genome.wustl.edu	37	chr10	89536142	89536142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgagctttcatcatggctGtagcttcatggtcagaactt	9	9	4	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr10:89536142G>T	ENST00000308448.7	-	6	1004	c.626C>A	c.(625-627)aCa>aAa	p.T209K	ATAD1_ENST00000328142.3_Missense_Mutation_p.T209K|ATAD1_ENST00000541004.1_Missense_Mutation_p.T209K|ATAD1_ENST00000400215.3_Missense_Mutation_p.T151K	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	209					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CATCATGGCTGTAGCTTCATG	0.378																																																	0								ENSG00000138138						132	133	133					10																	89536142		2203	4300	6503	ATAD1	SO:0001583	missense	0			-	HGNC	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.626C>A	10.37:g.89536142G>T	ENSP00000339017:p.Thr209Lys	Somatic	0	105	0		0.655363380285002	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T209K	ENST00000308448.7	37	c.626	CCDS7386.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.074503	0.94000	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.23	5.23	0.72850	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93583	0.6914	9	.	.	.	-10.9222	19.1787	0.93614	0.0:0.0:1.0:0.0	.	151;209	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	K	209;209;151;209	ENSP00000339017:T209K;ENSP00000339016:T209K;ENSP00000412968:T151K;ENSP00000445500:T209K	.	T	-	2	0	ATAD1	89526122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.597000	0.87782	0.563000	0.77884	ACA	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.378	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD1	protein_coding	OTTHUMT00000049235.1	G	NM_032810	-		89536142	-1	no_errors	ENST00000308448	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89536142	G	T	89536142	3	4	173	1	0	0	0	0	1	0	0	0	1070	1377	48	3	479	3	ATAD1	10	89536142	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	62132604	89536142	45998605	47	12158											
SORBS1	10580	genome.wustl.edu	37	chr10	97131754	97131754	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaattacctttctatcctctCtaggaaggatagagcagtct	8	9	3	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr10:97131754C>G	ENST00000361941.3	-	18	1816	c.1790G>C	c.(1789-1791)aGa>aCa	p.R597T	SORBS1_ENST00000371245.3_Missense_Mutation_p.R482T|SORBS1_ENST00000354106.3_Missense_Mutation_p.R567T|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.R482T|SORBS1_ENST00000393949.1_Missense_Mutation_p.R567T|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R619T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R619T|SORBS1_ENST00000371247.2_Missense_Mutation_p.R597T|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R551T|SORBS1_ENST00000607232.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R482T(1)|p.R597T(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCTATCCTCTCTAGGAAGGAT	0.453																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000095637						114	99	104					10																	97131754		2203	4300	6503	SORBS1	SO:0001583	missense	0			-	HGNC	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1790G>C	10.37:g.97131754C>G	ENSP00000355136:p.Arg597Thr	Somatic	0	42	0		0.655363380285002	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	15	46.43		Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R597T	ENST00000361941.3	37	c.1790	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884333	0.72410	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T	0.55234	0.53;3.09;3.06;3.42;2.96;0.53;3.09;3.42;2.96	5.69	5.69	0.88448	.	0.000000	0.42821	D	0.000644	T	0.58566	0.2131	N	0.19112	0.55	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.996;0.999;0.994;0.908	D;D;D;D;B	0.78314	0.99;0.944;0.991;0.919;0.436	T	0.61997	-0.6947	10	0.62326	D	0.03	-12.5268	14.6193	0.68572	0.1457:0.8543:0.0:0.0	.	551;482;597;619;567	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-5	.;.;SRBS1_HUMAN;.;.	T	482;597;551;619;567;482;597;619;567	ENSP00000360291:R482T;ENSP00000360293:R597T;ENSP00000360271:R551T;ENSP00000360292:R619T;ENSP00000377521:R567T;ENSP00000343998:R482T;ENSP00000355136:R597T;ENSP00000277982:R619T;ENSP00000277984:R567T	ENSP00000277982:R619T	R	-	2	0	SORBS1	97121744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.035000	0.49759	2.691000	0.91804	0.561000	0.74099	AGA	-	NULL		0.453	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	protein_coding	OTTHUMT00000049517.1	C		-		97131754	-1	no_errors	ENST00000361941	ensembl	human	known	74_37	missense	SNP	1.000	G	G	97131754	C	G	97131754	3	3	173	1	0	0	0	0	1	0	0	0	14935	913	32	4	2208	4	SORBS1	10	97131754	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	7595612	97131754	38402993	48	12159											
BLNK	29760	genome.wustl.edu	37	chr10	97951794	97951794	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttattctgactgtcaataaGaaccaaaggactatgttgat	8	6	2	3			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr10:97951794G>C	ENST00000224337.5	-	17	1447	c.1306C>G	c.(1306-1308)Ctt>Gtt	p.L436V	BLNK_ENST00000427367.2_Missense_Mutation_p.L401V|BLNK_ENST00000371176.2_Missense_Mutation_p.L413V|BLNK_ENST00000413476.2_Missense_Mutation_p.L384V	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	436	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGTCAATAAGAACCAAAGGA	0.343																																																	0								ENSG00000095585						234	222	226					10																	97951794		2203	4300	6503	BLNK	SO:0001583	missense	0			-	HGNC	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1306C>G	10.37:g.97951794G>C	ENSP00000224337:p.Leu436Val	Somatic	0	102	0		0.655363380285002	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	O75498|O75499|Q2MD49	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2	p.L436V	ENST00000224337.5	37	c.1306	CCDS7446.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.261879|4.261879	0.80358|0.80358	.|.	.|.	ENSG00000095585|ENSG00000095585	ENST00000393889|ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894	.|T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18	5.13|5.13	5.13|5.13	0.70059|0.70059	.|SH2 motif (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80742|0.80742	0.4681|0.4681	M|M	0.81179|0.81179	2.53|2.53	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D;D;D	.|0.89917	.|0.996;1.0;0.999;0.999;0.995;0.992	.|D;D;D;D;D;D	.|0.91635	.|0.994;0.999;0.998;0.993;0.992;0.996	D|D	0.83416|0.83416	0.0030|0.0030	6|10	0.87932|0.87932	D|D	0|0	-21.1215|-21.1215	17.72|17.72	0.88348|0.88348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|361;384;413;279;413;436	.|Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.|.;.;.;.;.;BLNK_HUMAN	L|V	161|436;413;401;384;279;165	.|ENSP00000224337:L436V;ENSP00000360218:L413V;ENSP00000391924:L401V;ENSP00000397487:L384V	ENSP00000377467:F161L|ENSP00000224337:L436V	F|L	-|-	3|1	2|0	BLNK|BLNK	97941784|97941784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.240000|6.240000	0.72363|0.72363	2.567000|2.567000	0.86603|0.86603	0.557000|0.557000	0.71058|0.71058	TTC|CTT	-	pfscan_SH2		0.343	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	protein_coding	OTTHUMT00000049593.1	G	NM_013314	-		97951794	-1	no_errors	ENST00000224337	ensembl	human	known	74_37	missense	SNP	1.000	C	C	97951794	G	C	97951794	3	2	173	1	0	0	0	0	1	0	0	0	1447	942	33	4	68	4	BLNK	10	97951794	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	820040	97951794	37582953	49	12160			2	87		2	2	19	G		5.174831e-05
BLNK	29760	genome.wustl.edu	37	chr10	97951812	97951812	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaccaaaggactatgttGatgattcctgatgatttcag	9	6	1	5			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr10:97951812G>A	ENST00000224337.5	-	17	1429	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	BLNK_ENST00000427367.2_Nonsense_Mutation_p.Q395*|BLNK_ENST00000371176.2_Nonsense_Mutation_p.Q407*|BLNK_ENST00000413476.2_Nonsense_Mutation_p.Q378*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	430	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGACTATGTTGATGATTCCTG	0.348																																																	0								ENSG00000095585						206	194	198					10																	97951812		2203	4300	6503	BLNK	SO:0001587	stop_gained	0			-	HGNC	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1288C>T	10.37:g.97951812G>A	ENSP00000224337:p.Gln430*	Somatic	0	105	0		0.655363380285002	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	O75498|O75499|Q2MD49	Nonsense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2	p.Q430*	ENST00000224337.5	37	c.1288	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.657583	0.96734	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894	.	.	.	5.13	5.13	0.70059	.	0.133376	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-20.8264	17.72	0.88348	0.0:0.0:1.0:0.0	.	.	.	.	X	430;407;395;378;273;159	.	ENSP00000224337:Q430X	Q	-	1	0	BLNK	97941802	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.175000	0.71949	2.567000	0.86603	0.557000	0.71058	CAA	-	smart_SH2,pfscan_SH2		0.348	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	protein_coding	OTTHUMT00000049593.1	G	NM_013314	-		97951812	-1	no_errors	ENST00000224337	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	97951812	G	A	97951812	4	1	173	1	0	0	0	0	0	1	0	0	1447	1299	45	2	86	2	BLNK	10	97951812	Nonsense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	18	97951812	37582935	50	12161			2	87		2	2	19	G		5.174831e-05
TH	7054	genome.wustl.edu	37	chr11	2189744	2189744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccgcggggctgcgcAcgtcctctgacacctggcgc	15	17	1	1	rs113018526		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:2189744A>C	ENST00000381178.1	-	4	575	c.557T>G	c.(556-558)gTg>gGg	p.V186G	TH_ENST00000381175.1_Missense_Mutation_p.V182G|TH_ENST00000352909.3_Missense_Mutation_p.V155G|TH_ENST00000333684.5_Missense_Mutation_p.V159G	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	186					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGGGCTGCGCACGTCCTCTGA	0.701																																																	0								ENSG00000180176						15	17	16					11																	2189744		2186	4268	6454	TH	SO:0001583	missense	0			-	HGNC	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.557T>G	11.37:g.2189744A>C	ENSP00000370571:p.Val186Gly	Somatic	0	40	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	7	66.67	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP							pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.V186G	ENST00000381178.1	37	c.557	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837303	0.71373	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	3.14	3.14	0.36123	Aromatic amino acid hydroxylase, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.98798	0.9595	M	0.77313	2.365	0.80722	D	1	B;D;D;D;D;D	0.76494	0.113;0.984;0.984;0.999;0.984;0.991	B;P;P;D;P;D	0.80764	0.068;0.5;0.5;0.994;0.889;0.948	D	0.99019	1.0817	10	0.66056	D	0.02	-24.4282	11.0179	0.47701	1.0:0.0:0.0:0.0	.	159;159;155;155;186;182	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	G	186;182;155;159	ENSP00000370571:V186G;ENSP00000370567:V182G;ENSP00000325951:V155G;ENSP00000328814:V159G	ENSP00000328814:V159G	V	-	2	0	TH	2146320	0.993000	0.37304	0.057000	0.19452	0.201000	0.24016	4.350000	0.59392	1.437000	0.47472	0.402000	0.26972	GTG	-	pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase		0.701	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	protein_coding	OTTHUMT00000026597.1	A	NM_000360	-		2189744	-1	no_errors	ENST00000381178	ensembl	human	known	74_37	missense	SNP	0.999	C	C	2189744	A	C	2189744	3	2	173	1	0	0	0	0	1	0	0	0	15845	159	6	5	1073	5	TH	11	2189744	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09		2189744	132816772	51	12162											
MICALCL	84953	genome.wustl.edu	37	chr11	12315442	12315442	+	Frame_Shift_Del	DEL	A	A	-													cttggctggagaagaccgggAaaaagggagtactggagcca							TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:12315442delA	ENST00000256186.2	+	3	755	c.464delA	c.(463-465)gaafs	p.E155fs		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAAGACCGGGAAAAAGGGAGT	0.572																																																	0								ENSG00000133808						60	68	65					11																	12315442		1949	4131	6080	MICALCL	SO:0001589	frameshift_variant	0				HGNC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.464delA	11.37:g.12315442delA	ENSP00000256186:p.Glu155fs	Somatic	0	36	0		0.655363380285002	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	Q7RTP7|Q96JU6	Frame_Shift_Del	DEL							pfam_DUF3585,smart_ProQ/FinO	p.S158fs	ENST00000256186.2	37	c.464	CCDS41620.1	11																																																																																			-	NULL		0.572	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	protein_coding	OTTHUMT00000386164.1	A	NM_032867			12315442	1	no_errors	ENST00000256186	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	12315442	A	-	12315442	7	5	173	1	0	1	0	1	0	0	0	0	9574	246	9	0	470	0	MICALCL	11	12315442	Frame_Shift_Del	DEL	A	TCGA-K1-A6RV-01A-11D-A32I-09	10125698	12315442	122691074	52	12163											
ABCC8	6833	genome.wustl.edu	37	chr11	17449476	17449476	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catctggggtccacgtgaagTagcctcccatgatcttcatt	9	12	3	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:17449476T>A	ENST00000389817.3	-	15	2122	c.2054A>T	c.(2053-2055)tAc>tTc	p.Y685F	ABCC8_ENST00000302539.4_Missense_Mutation_p.Y685F|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	685	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCACGTGAAGTAGCCTCCCAT	0.582																																																	0								ENSG00000006071						160	124	136					11																	17449476		2200	4293	6493	ABCC8	SO:0001583	missense	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2054A>T	11.37:g.17449476T>A	ENSP00000374467:p.Tyr685Phe	Somatic	0	61	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y685F	ENST00000389817.3	37	c.2054	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	T	7.874	0.728685	0.15507	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90324	-2.65;-2.65	4.77	3.63	0.41609	ABC transporter-like (1);	0.122857	0.56097	N	0.000021	T	0.80154	0.4571	N	0.20445	0.575	0.27389	N	0.955204	B	0.02656	0.0	B	0.01281	0.0	T	0.62034	-0.6939	10	0.10377	T	0.69	.	9.4154	0.38519	0.821:0.0:0.0:0.179	.	685	Q09428	ABCC8_HUMAN	F	685;685;689	ENSP00000374467:Y685F;ENSP00000303960:Y685F	ENSP00000303960:Y685F	Y	-	2	0	ABCC8	17406052	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.655000	0.46707	0.829000	0.34733	0.459000	0.35465	TAC	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	T	NM_000352	-		17449476	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17449476	T	A	17449476	3	1	173	1	0	0	0	0	1	0	0	0	58	1638	57	5	2791	5	ABCC8	11	17449476	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	5134034	17449476	117557040	53	12164											
DAGLA	747	genome.wustl.edu	37	chr11	61508747	61508747	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atcttccagcagcagccactCcccacggggccgcccatgcc	9	20	1	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:61508747C>G	ENST00000257215.5	+	19	2213	c.2097C>G	c.(2095-2097)ctC>ctG	p.L699L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	699					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)		AGCAGCCACTCCCCACGGGGC	0.652																																																	0								ENSG00000134780						50	46	48					11																	61508747		2202	4299	6501	DAGLA	SO:0001819	synonymous_variant	0			-	HGNC	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.2097C>G	11.37:g.61508747C>G		Somatic	0	41	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	58	33.33	A7E233|Q6WQJ0	Silent	SNP							pfam_Lipase_3	p.L699	ENST00000257215.5	37	c.2097	CCDS31578.1	11																																																																																			-	NULL		0.652	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	C	NM_006133	-		61508747	1	no_errors	ENST00000257215	ensembl	human	known	74_37	silent	SNP	1.000	G	G	61508747	C	G	61508747	2	3	173	1	0	0	0	0	0	0	0	1	4228	842	30	4		4	DAGLA	11	61508747	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	44059271	61508747	73497769	54	12165											
AHNAK	79026	genome.wustl.edu	37	chr11	62284533	62284534	+	Frame_Shift_Del	DEL	CA	CA	-													aggtccagagaactctctttCatcactgaatgaatttgagc							TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:62284533_62284534delCA	ENST00000378024.4	-	5	17629_17630	c.17355_17356delTG	c.(17353-17358)gatgaafs	p.D5785fs	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5785					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E5786K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTCTCTTTCATCACTGAATG	0.51																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000124942																																			AHNAK	SO:0001589	frameshift_variant	0				HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17355_17356delTG	11.37:g.62284533_62284534delCA	ENSP00000367263:p.Asp5785fs	Somatic	0	37	0		0.655363380285002	690	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	37.50	A1A586	Frame_Shift_Del	DEL							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D5785fs	ENST00000378024.4	37	c.17356_17355	CCDS31584.1	11																																																																																			-	NULL		0.51	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	CA	NM_024060			62284534	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	frame_shift_del	DEL	0.975:0.440	-	-	62284534	CA	-	62284533	7	5	173	1	0	1	0	1	0	0	0	0	414	835	29	0	436	0	AHNAK	11	62284533	Frame_Shift_Del	DEL	CA	TCGA-K1-A6RV-01A-11D-A32I-09	775786	62284533	72721983	55	12166	188	2									
AHNAK	79026	genome.wustl.edu	37	chr11	62284538	62284571	+	Frame_Shift_Del	DEL	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	-													cagagaactctctttcatcaCtgaatgaatttgagcggtgc					rs370820574|rs190527959|rs183445252|rs377736920|rs200104251		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:62284538_62284571delCTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	ENST00000378024.4	-	5	17592_17625	c.17318_17351delGTAAGAAGCCACGGCACCGCTCAAATTCATTCAG	c.(17317-17352)agtaagaagccacggcaccgctcaaattcattcagtfs	p.SKKPRHRSNSFS5773fs	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5773					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P5776L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTTCATCACTGAATGAATTTGAGCGGTGCCGTGGCTTCTTACTTTTAAATAA	0.509																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000124942																																			AHNAK	SO:0001589	frameshift_variant	0				HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17318_17351delGTAAGAAGCCACGGCACCGCTCAAATTCATTCAG	11.37:g.62284538_62284571delCTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	ENSP00000367263:p.Ser5773fs	Somatic					0.655363380285002	678	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1A586	Frame_Shift_Del	DEL							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S5773fs	ENST00000378024.4	37	c.17351_17318	CCDS31584.1	11																																																																																			-	NULL		0.509	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	NM_024060			62284571	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	frame_shift_del	DEL	0.998:1.000:1.000:1.000:0.996:0.924:0.938:0.929:0.002:0.000:0.000:0.000:0.970:0.982:0.960:0.999:1.000:1.000:0.995:0.929:0.283:0.192:0.069:0.024:0.956:0.961:1.000:1.000:1.000:0.992:0.992:0.893:0.822:0.918	-	-	62284571	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	-	62284538	7	5	173	1	0	1	0	1	0	0	0	0	414	565	20	0	441	0	AHNAK	11	62284538	Frame_Shift_Del	DEL	CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC	TCGA-K1-A6RV-01A-11D-A32I-09	5	62284538	72721978	56	12167	188	2									
INTS5	80789	genome.wustl.edu	37	chr11	62416816	62416816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaaagtccttaaggcCacaggagagaacccgggaaa	11	10	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:62416816C>A	ENST00000330574.2	-	2	788	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	246					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCCTTAAGGCCACAGGAGAGA	0.547																																																	0								ENSG00000185085						92	87	89					11																	62416816		2202	4299	6501	INTS5	SO:0001583	missense	0			-	HGNC	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.736G>T	11.37:g.62416816C>A	ENSP00000327889:p.Gly246Cys	Somatic	0	100	0		0.655363380285002	5	68.75	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	56	42.27	Q8N6W5|Q9C0G5	Missense_Mutation	SNP							NULL	p.G246C	ENST00000330574.2	37	c.736	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125638	0.77436	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	M	0.72894	2.215	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.80549	-0.1333	9	0.87932	D	0	.	14.8911	0.70609	0.0:1.0:0.0:0.0	.	246	Q6P9B9	INT5_HUMAN	C	246	.	ENSP00000327889:G246C	G	-	1	0	INTS5	62173392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.208000	0.77907	2.378000	0.81104	0.650000	0.86243	GGC	-	NULL		0.547	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	protein_coding	OTTHUMT00000395327.1	C	NM_030628	-		62416816	-1	no_errors	ENST00000330574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62416816	C	A	62416816	3	1	173	1	0	0	0	0	1	0	0	0	7783	594	21	3	2327	3	INTS5	11	62416816	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	132278	62416816	72589700	57	12168											
ATG2A	23130	genome.wustl.edu	37	chr11	64669435	64669435	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccctcccaccacgcaccGggatgcccaggccgggagca	11	19	0	0	rs528665670		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:64669435G>T	ENST00000377264.3	-	29	4230	c.4118C>A	c.(4117-4119)cCg>cAg	p.P1373Q	ATG2A_ENST00000421419.2_Splice_Site_p.P1375Q	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1373					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACCACGCACCGGGATGCCCAG	0.612																																																	0								ENSG00000110046						103	89	93					11																	64669435		2201	4297	6498	ATG2A	SO:0001630	splice_region_variant	0			-	HGNC		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4119+1C>A	11.37:g.64669435G>T		Somatic	0	40	0		0.655363380285002	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.P1375Q	ENST00000377264.3	37	c.4124	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921832	0.17982	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.38401	1.14;1.14	4.63	1.54	0.23209	.	0.378699	0.26183	N	0.025848	T	0.21347	0.0514	N	0.05078	-0.115	0.38735	D	0.953769	P;D	0.56035	0.956;0.974	P;P	0.54664	0.578;0.758	T	0.20405	-1.0276	10	0.10636	T	0.68	.	4.8154	0.13363	0.1995:0.0:0.6315:0.169	.	1373;1375	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	Q	1375;1373	ENSP00000410522:P1375Q;ENSP00000366475:P1373Q	ENSP00000366475:P1373Q	P	-	2	0	ATG2A	64426011	1.000000	0.71417	0.621000	0.29145	0.843000	0.47879	2.178000	0.42519	0.099000	0.17552	0.563000	0.77884	CCG	-	NULL		0.612	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	protein_coding	OTTHUMT00000143224.1	G	NM_015104	-	Missense_Mutation	64669435	-1	no_errors	ENST00000421419	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64669435	G	T	64669435	5	4	173	1	0	0	0	0	0	0	1	0	1093	1130	39	3	1750	3	ATG2A	11	64669435	Splice_Site	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	2252619	64669435	70337081	58	12169											
SSH3	54961	genome.wustl.edu	37	chr11	67075346	67075346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagcagatggagcaggCgatccgtgctgagctgtgga	17	8	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:67075346C>T	ENST00000308127.4	+	8	999	c.821C>T	c.(820-822)gCg>gTg	p.A274V	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.A274V|SSH3_ENST00000376757.5_Missense_Mutation_p.A274V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	274					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ATGGAGCAGGCGATCCGTGCT	0.617																																																	0								ENSG00000172830						88	85	86					11																	67075346		2200	4295	6495	SSH3	SO:0001583	missense	0			-	HGNC	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.821C>T	11.37:g.67075346C>T	ENSP00000312081:p.Ala274Val	Somatic	0	52	0		0.655363380285002	21	4.35	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	47	26.56	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A274V	ENST00000308127.4	37	c.821	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969552	0.34754	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757;ENST00000527821	T;T;T;T	0.28255	3.84;1.62;3.86;2.36	4.5	2.46	0.29980	DEK, C-terminal (1);	0.453451	0.20282	N	0.095438	T	0.10809	0.0264	N	0.12182	0.205	0.30879	N	0.731657	P;B	0.43477	0.808;0.009	B;B	0.36504	0.226;0.013	T	0.05305	-1.0893	10	0.11794	T	0.64	-22.2414	3.0869	0.06280	0.0:0.5033:0.2435:0.2532	.	128;274	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	V	274;274;274;26	ENSP00000312081:A274V;ENSP00000310055:A274V;ENSP00000365948:A274V;ENSP00000433902:A26V	ENSP00000312081:A274V	A	+	2	0	SSH3	66831922	0.000000	0.05858	0.989000	0.46669	0.940000	0.58332	0.106000	0.15354	2.241000	0.73720	0.462000	0.41574	GCG	-	pfam_DEK_C		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	protein_coding	OTTHUMT00000393167.1	C	NM_018276	-		67075346	1	no_errors	ENST00000308127	ensembl	human	known	74_37	missense	SNP	0.969	T	T	67075346	C	T	67075346	3	4	173	1	0	0	0	0	1	0	0	0	15193	768	27	1	851	1	SSH3	11	67075346	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	2405911	67075346	67931170	59	12170											
LRP5	4041	genome.wustl.edu	37	chr11	68204446	68204446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttccccgactgtatcgacGgctccgacgagctcatgtgt	10	15	1	0	rs146404570	byFrequency	TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:68204446G>T	ENST00000294304.7	+	19	4196	c.4090G>T	c.(4090-4092)Ggc>Tgc	p.G1364C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1364	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			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						CTGTATCGACGGCTCCGACGA	0.632																																																	0								ENSG00000162337						152	112	126					11																	68204446		2200	4294	6494	LRP5	SO:0001583	missense	0			-	HGNC	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.4090G>T	11.37:g.68204446G>T	ENSP00000294304:p.Gly1364Cys	Somatic	0	38	0		0.655363380285002	24	53.57	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	19	58.70	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP							pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G1364C	ENST00000294304.7	37	c.4090	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850786	0.71719	.	.	ENSG00000162337	ENST00000294304	D	0.96716	-4.1	4.37	4.37	0.52481	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.121825	0.35708	U	0.003039	D	0.98343	0.9450	H	0.95679	3.705	0.46078	D	0.998852	D;D	0.69078	0.997;0.997	D;D	0.66084	0.941;0.941	D	0.98602	1.0659	10	0.87932	D	0	.	11.1199	0.48284	0.0849:0.0:0.9151:0.0	.	1364;1364	Q9UES7;O75197	.;LRP5_HUMAN	C	1364	ENSP00000294304:G1364C	ENSP00000294304:G1364C	G	+	1	0	LRP5	67961022	0.999000	0.42202	0.966000	0.40874	0.991000	0.79684	3.007000	0.49536	2.453000	0.82957	0.638000	0.83543	GGC	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	protein_coding	OTTHUMT00000395088.1	G	NM_002335	-		68204446	1	no_errors	ENST00000294304	ensembl	human	known	74_37	missense	SNP	0.993	T	T	68204446	G	T	68204446	3	4	173	1	0	0	0	0	1	0	0	0	8962	1116	39	3	4164	3	LRP5	11	68204446	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	1129100	68204446	66802070	60	12171											
GRM5	2915	genome.wustl.edu	37	chr11	88300954	88300954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcgcaatgaggcagaAggtacataagtagcccaggc	14	9	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:88300954A>C	ENST00000305447.4	-	7	2046	c.1897T>G	c.(1897-1899)Ttc>Gtc	p.F633V	GRM5_ENST00000455756.2_Missense_Mutation_p.F633V|GRM5_ENST00000393297.1_Missense_Mutation_p.F633V|GRM5_ENST00000305432.5_Missense_Mutation_p.F633V|GRM5_ENST00000418177.2_Missense_Mutation_p.F633V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	633					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATGAGGCAGAAGGTACATAAG	0.478																																																	0								ENSG00000168959						106	94	98					11																	88300954		2201	4299	6500	GRM5	SO:0001583	missense	0			-	HGNC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1897T>G	11.37:g.88300954A>C	ENSP00000306138:p.Phe633Val	Somatic	0	58	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	26	48.00	Q6J164	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.F633V	ENST00000305447.4	37	c.1897	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300825	0.81136	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.087086	0.85682	D	0.000000	D	0.93465	0.7915	M	0.69463	2.115	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	D	0.93199	0.6590	9	.	.	.	.	15.9905	0.80202	1.0:0.0:0.0:0.0	.	633;633	P41594-2;P41594	.;GRM5_HUMAN	V	633	ENSP00000402912:F633V;ENSP00000405690:F633V;ENSP00000305905:F633V;ENSP00000306138:F633V;ENSP00000376975:F633V	.	F	-	1	0	GRM5	87940602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.187000	0.69744	0.533000	0.62120	TTC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	protein_coding	OTTHUMT00000259226.1	A	NM_000842	-		88300954	-1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	SNP	1.000	C	C	88300954	A	C	88300954	3	2	173	1	0	0	0	0	1	0	0	0	6802	72	3	5	1753	5	GRM5	11	88300954	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09	20096508	88300954	46705562	61	12172											
CDON	50937	genome.wustl.edu	37	chr11	125867223	125867223	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagtgattggagaaccCccgtttgcccgaggaatcca	12	11	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr11:125867223C>G	ENST00000392693.3	-	12	2368	c.2241G>C	c.(2239-2241)ggG>ggC	p.G747G	CDON_ENST00000531738.1_Silent_p.G124G|CDON_ENST00000263577.7_Silent_p.G747G	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	747	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TTGGAGAACCCCCGTTTGCCC	0.507																																																	0								ENSG00000064309						108	84	92					11																	125867223		2201	4299	6500	CDON	SO:0001819	synonymous_variant	0			-	HGNC	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.2241G>C	11.37:g.125867223C>G		Somatic	0	118	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	44	38.03	O14631	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G747	ENST00000392693.3	37	c.2241	CCDS58192.1	11																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	C	NM_016952	-		125867223	-1	no_errors	ENST00000392693	ensembl	human	known	74_37	silent	SNP	0.953	G	G	125867223	C	G	125867223	2	3	173	1	0	0	0	0	0	0	0	1	3172	610	22	4		4	CDON	11	125867223	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	37566269	125867223	9139293	62	12173											
LEPREL2	10536	genome.wustl.edu	37	chr12	6943091	6943091	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttttccctggcagatGtccttctcctggagggtgtg	12	11	2	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr12:6943091G>T	ENST00000538102.1	+	0	486				LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGCAGATGTCCTTCTCCT	0.637																																																	0								ENSG00000110811						92	98	96					12																	6943091		2017	4181	6198	LEPREL2			0			-	HGNC	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 3"	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6943091G>T		Somatic	0	40	0		0.655363380285002	777	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Missense_Mutation	SNP							smart_Pro_4_hyd_alph	p.V445F	ENST00000538102.1	37	c.1333		12	.	.	.	.	.	.	.	.	.	.	G	2.410	-0.335633	0.05278	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.70749	-0.51;-0.51	4.68	3.76	0.43208	.	0.739273	0.13243	N	0.402705	T	0.56863	0.2014	.	.	.	0.09310	N	1	P	0.38642	0.641	B	0.36030	0.216	T	0.54977	-0.8212	9	0.87932	D	0	-11.7488	5.6462	0.17590	0.0804:0.1932:0.6001:0.1262	.	446	Q8IVL6	P3H3_HUMAN	F	445;261	ENSP00000379951:V445F;ENSP00000290510:V261F	ENSP00000290510:V261F	V	+	1	0	LEPREL2	6813352	0.981000	0.34729	0.995000	0.50966	0.151000	0.21798	1.481000	0.35476	2.435000	0.82474	0.556000	0.70494	GTC	-	NULL		0.637	LEPREL2-006	KNOWN	basic	processed_transcript	LEPREL2	polymorphic_pseudogene	OTTHUMT00000399998.1	G	NM_014262	-		6943091	1	no_errors	ENST00000396725	ensembl	human	known	74_37	missense	SNP	0.003	T	T	6943091	G	T	6943091	1	4	173	0	1	0	0	0	0	0	0	0	8733	1377	48	3		3	LEPREL2	12	6943091	RNA	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09		6943091	126908804	63	12174											
PZP	5858	genome.wustl.edu	37	chr12	9312564	9312564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggttcctgccatatcgtTccccaaaggtgctgtaggag	11	12	0	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr12:9312564T>C	ENST00000261336.2	-	25	3135	c.3107A>G	c.(3106-3108)gAa>gGa	p.E1036G	PZP_ENST00000381997.2_Missense_Mutation_p.E822G|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1036					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						GCCATATCGTTCCCCAAAGGT	0.418																																					Melanoma(125;1402 1695 4685 34487 38571)												0								ENSG00000126838						190	183	185					12																	9312564		2203	4300	6503	PZP	SO:0001583	missense	0			-	HGNC	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.3107A>G	12.37:g.9312564T>C	ENSP00000261336:p.Glu1036Gly	Somatic	0	97	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E1036G	ENST00000261336.2	37	c.3107	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	T	8.576	0.881142	0.17467	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35973	1.28;1.28	4.44	4.44	0.53790	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.044110	0.07605	U	0.924377	T	0.45316	0.1336	M	0.69358	2.11	0.09310	N	1	P;P	0.45768	0.628;0.866	B;P	0.48873	0.236;0.593	T	0.38067	-0.9678	10	0.54805	T	0.06	.	5.6887	0.17817	0.0:0.0922:0.2975:0.6102	.	822;1036	P20742-2;P20742	.;PZP_HUMAN	G	1036;822	ENSP00000261336:E1036G;ENSP00000371427:E822G	ENSP00000261336:E1036G	E	-	2	0	PZP	9203831	0.000000	0.05858	0.307000	0.25127	0.118000	0.20060	0.199000	0.17237	1.938000	0.56188	0.460000	0.39030	GAA	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.418	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	T	NM_002864	-		9312564	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	SNP	0.010	C	C	9312564	T	C	9312564	3	2	173	1	0	0	0	0	1	0	0	0	12877	1783	62	5	1389	5	PZP	12	9312564	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	2369473	9312564	124539331	64	12175											
MIP	4284	genome.wustl.edu	37	chr12	56848076	56848076	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggacagcaggtggggTaacgctatacagcacagcgg	14	11	0	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr12:56848076T>A	ENST00000257979.4	-	1	350	c.322A>T	c.(322-324)Acc>Tcc	p.T108S	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	108					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCAGGTGGGGTAACGCTATAC	0.592																																																	0								ENSG00000135517						57	63	61					12																	56848076		2203	4300	6503	MIP	SO:0001583	missense	0			-	HGNC		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"Ion channels / Aquaporins"	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.322A>T	12.37:g.56848076T>A	ENSP00000257979:p.Thr108Ser	Somatic	0	45	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	10	70.59	Q17R41	Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.T108S	ENST00000257979.4	37	c.322	CCDS8919.1	12	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657783	0.88154	.	.	ENSG00000135517	ENST00000257979	D	0.93247	-3.19	5.18	5.18	0.71444	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.37561	1.115	0.58432	D	0.999998	P	0.43973	0.823	P	0.56127	0.792	D	0.93212	0.6601	10	0.44086	T	0.13	-23.6709	14.3185	0.66468	0.0:0.0:0.0:1.0	.	108	P30301	MIP_HUMAN	S	108	ENSP00000257979:T108S	ENSP00000257979:T108S	T	-	1	0	MIP	55134343	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	5.957000	0.70323	2.093000	0.63338	0.459000	0.35465	ACC	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.592	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIP	protein_coding	OTTHUMT00000409620.1	T	NM_012064	-		56848076	-1	no_errors	ENST00000257979	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56848076	T	A	56848076	3	1	173	1	0	0	0	0	1	0	0	0	9593	1638	57	5	485	5	MIP	12	56848076	Missense_Mutation	SNP	T	TCGA-K1-A6RV-01A-11D-A32I-09	47535512	56848076	77003819	65	12176											
XPO4	64328	genome.wustl.edu	37	chr13	21476857	21476857	+	Frame_Shift_Del	DEL	C	C	-													tgagcgatcacttctgggggCcccagcgccgccgccatcat					rs372982570		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr13:21476857delC	ENST00000255305.6	-	1	92	c.21delG	c.(19-21)gggfs	p.G7fs	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Frame_Shift_Del_p.G7fs			Q9C0E2	XPO4_HUMAN	exportin 4	7					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTTCTGGGGGCCCCAGCGCCG	0.711																																																	0								ENSG00000132953			1,3563		0,1,1781	15	20	18			3.3	1	13		6	1,7829		0,1,3914	no	frameshift	XPO4	NM_022459.4		0,2,5695	A1A1,A1R,RR		0.0128,0.0281,0.0176			21476857	2,11392	1856	4093	5949	XPO4	SO:0001589	frameshift_variant	0				HGNC	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.21delG	13.37:g.21476857delC	ENSP00000255305:p.Gly7fs	Somatic	0	27	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	Q5VUZ5|Q8N3V6|Q9H934	Frame_Shift_Del	DEL							superfamily_ARM-type_fold	p.P9fs	ENST00000255305.6	37	c.21	CCDS41872.1	13																																																																																			-	superfamily_ARM-type_fold		0.711	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	protein_coding	OTTHUMT00000044096.1	C	NM_022459			21476857	-1	no_errors	ENST00000255305	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	21476857	C	-	21476857	7	5	173	1	0	1	0	1	0	0	0	0	17453	726	26	0	3526	0	XPO4	13	21476857	Frame_Shift_Del	DEL	C	TCGA-K1-A6RV-01A-11D-A32I-09		21476857	93693021	66	12177											
COL4A1	1282	genome.wustl.edu	37	chr13	110828798	110828798	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccattccaccaacagatcCttttggtcccggaagtcctg	8	15	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr13:110828798C>A	ENST00000375820.4	-	36	3152	c.3031G>T	c.(3031-3033)Gga>Tga	p.G1011*		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1011	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAACAGATCCTTTTGGTCCC	0.483																																																	0								ENSG00000187498						95	82	86					13																	110828798		2203	4300	6503	COL4A1	SO:0001587	stop_gained	0			-	HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3031G>T	13.37:g.110828798C>A	ENSP00000364979:p.Gly1011*	Somatic	0	50	0		0.655363380285002	169	0.59	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	48	35.14	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1011*	ENST00000375820.4	37	c.3031	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.181571	0.98693	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	.	.	.	X	654;1011;660	.	ENSP00000364973:G654X	G	-	1	0	COL4A1	109626799	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.175000	0.77632	2.782000	0.95742	0.655000	0.94253	GGA	-	pfam_Collagen		0.483	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	C		-		110828798	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	110828798	C	A	110828798	4	1	173	1	0	0	0	0	0	1	0	0	3691	690	24	3	2046	3	COL4A1	13	110828798	Nonsense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	89351941	110828798	4341080	67	12178											
MCF2L	23263	genome.wustl.edu	37	chr13	113732739	113732739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccggagagggccctacCggagggccaaggtgaggctt	17	12	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr13:113732739C>T	ENST00000375608.3	+	15	1871	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	MCF2L_ENST00000421756.1_Missense_Mutation_p.R579W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R632W|MCF2L_ENST00000397030.1_Missense_Mutation_p.R608W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R573W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R605W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R579W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R573W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R581W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R575W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	605					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGGGCCCTACCGGAGGGCCAA	0.687																																																	0								ENSG00000126217						36	39	38					13																	113732739		2199	4299	6498	MCF2L	SO:0001583	missense	0			-	HGNC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1813C>T	13.37:g.113732739C>T	ENSP00000364758:p.Arg605Trp	Somatic	0	43	0		0.655363380285002	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP							pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R632W	ENST00000375608.3	37	c.1894		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.82|15.82	2.946502|2.946502	0.53186|0.53186	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.37752	.|1.23;1.23;1.18;1.23;1.19;1.25;1.19;1.23;1.19;1.25	4.06|4.06	-1.46|-1.46	0.08800|0.08800	.|.	.|0.232964	.|0.42294	.|D	.|0.000738	T|T	0.52869|0.52869	0.1761|0.1761	M|M	0.76002|0.76002	2.32|2.32	0.26738|0.26738	N|N	0.970443|0.970443	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.998;0.999;0.998;0.999;0.998	.|D;D;D;P;D;D	.|0.69307	.|0.946;0.946;0.963;0.881;0.946;0.918	T|T	0.51996|0.51996	-0.8634|-0.8634	5|10	.|0.72032	.|D	.|0.01	.|.	11.4213|11.4213	0.49982|0.49982	0.4155:0.5845:0.0:0.0|0.4155:0.5845:0.0:0.0	.|.	.|573;575;632;537;573;605	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	L|W	235|605;605;632;608;575;579;579;581;573;573;416	.|ENSP00000364758:R605W;ENSP00000401422:R605W;ENSP00000364754:R632W;ENSP00000380225:R608W;ENSP00000440374:R575W;ENSP00000397285:R579W;ENSP00000364751:R579W;ENSP00000407722:R581W;ENSP00000405639:R573W;ENSP00000364747:R573W	.|ENSP00000364747:R573W	P|R	+|+	2|1	0|2	MCF2L|MCF2L	112780740|112780740	0.995000|0.995000	0.38212|0.38212	0.987000|0.987000	0.45799|0.45799	0.649000|0.649000	0.38597|0.38597	0.179000|0.179000	0.16840|0.16840	-0.353000|-0.353000	0.08224|0.08224	0.561000|0.561000	0.74099|0.74099	CCG|CGG	-	NULL		0.687	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	protein_coding	OTTHUMT00000045849.4	C		-		113732739	1	no_errors	ENST00000375604	ensembl	human	known	74_37	missense	SNP	0.997	T	T	113732739	C	T	113732739	3	4	173	1	0	0	0	0	1	0	0	0	9381	643	23	1	2043	1	MCF2L	13	113732739	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	2903941	113732739	1437139	68	12179											
CSPG4	1464	genome.wustl.edu	37	chr15	75979836	75979836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggccccatccagcaggtcCtgctgggagaaggctgtggc	15	13	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr15:75979836C>G	ENST00000308508.5	-	3	3662	c.3570G>C	c.(3568-3570)caG>caC	p.Q1190H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1190	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCAGCAGGTCCTGCTGGGAGA	0.647																																																	0								ENSG00000173546						55	57	56					15																	75979836		2196	4293	6489	CSPG4	SO:0001583	missense	0			-	HGNC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3570G>C	15.37:g.75979836C>G	ENSP00000312506:p.Gln1190His	Somatic	0	99	0		0.655363380285002	16	57.89	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	38	55.29	D3DW77|Q92675	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.Q1190H	ENST00000308508.5	37	c.3570	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	9.799	1.180015	0.21787	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	5.07	4.16	0.48862	.	0.516581	0.17606	N	0.168252	T	0.09992	0.0245	N	0.08118	0	0.33952	D	0.644584	B	0.16396	0.017	B	0.06405	0.002	T	0.14896	-1.0456	10	0.29301	T	0.29	.	7.6578	0.28386	0.1623:0.7547:0.0:0.0829	.	1190	Q6UVK1	CSPG4_HUMAN	H	1190	ENSP00000312506:Q1190H	ENSP00000312506:Q1190H	Q	-	3	2	CSPG4	73766891	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.860000	0.39428	1.138000	0.42230	0.555000	0.69702	CAG	-	NULL		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	protein_coding	OTTHUMT00000286472.1	C	NM_001897	-		75979836	-1	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75979836	C	G	75979836	3	3	173	1	0	0	0	0	1	0	0	0	3962	680	24	4	3430	4	CSPG4	15	75979836	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09		75979836	26551556	69	12180											
SYNM	23336	genome.wustl.edu	37	chr15	99670639	99670639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatagttgtggagtctaaaCtgactgaggatgttgatgtt	12	3	1	3			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr15:99670639C>T	ENST00000560674.1	+	4	1685	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	SYNM_ENST00000328642.7_Silent_p.L691L|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.L691L|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	692	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGTCTAAACTGACTGAGGA	0.448																																					Pancreas(125;1071 1762 21750 40003 40381)												0								ENSG00000182253						84	83	83					15																	99670639		1977	4155	6132	SYNM	SO:0001819	synonymous_variant	0			-	HGNC	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1216C>T	15.37:g.99670639C>T		Somatic	0	28	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP							pfam_IF	p.L691	ENST00000560674.1	37	c.2071		15																																																																																			-	NULL		0.448	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	protein_coding	OTTHUMT00000415698.2	C	NM_145728	-		99670639	1	no_errors	ENST00000336292	ensembl	human	known	74_37	silent	SNP	0.502	T	T	99670639	C	T	99670639	2	4	173	1	0	0	0	0	0	0	0	1	15462	564	20	2		2	SYNM	15	99670639	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	23690803	99670639	2860753	70	12181											
TP53	7157	genome.wustl.edu	37	chr17	7578204	7578204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcatagggcaccaccacActatgtcgaaaagtgtttct	9	11	2	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:7578204A>C	ENST00000269305.4	-	6	834	c.645T>G	c.(643-645)agT>agG	p.S215R	TP53_ENST00000359597.4_Missense_Mutation_p.S215R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.S215R|TP53_ENST00000420246.2_Missense_Mutation_p.S215R|TP53_ENST00000445888.2_Missense_Mutation_p.S215R|TP53_ENST00000413465.2_Missense_Mutation_p.S215R	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.S215R(17)|p.0?(8)|p.?(5)|p.S215S(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.V216fs*6(1)|p.T211_S215delTFRHS(1)|p.S83R(1)|p.D208fs*1(1)|p.S215fs*32(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)|p.S122R(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)	GCACCACCACACTATGTCGAA	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	53	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(3)|Substitution - coding silent(2)|Insertion - In frame(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(9)|biliary_tract(5)|large_intestine(5)|bone(5)|breast(5)|stomach(4)|oesophagus(4)|ovary(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(2)|skin(2)|lung(2)|liver(1)|prostate(1)	GRCh37	CD941799	TP53	D		ENSG00000141510						124	111	116					17																	7578204		2203	4300	6503	TP53	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;	-	HGNC	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.645T>G	17.37:g.7578204A>C	ENSP00000269305:p.Ser215Arg	Somatic	0	66	0		0.655363380285002	1	93.33	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	16	72.58	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S215R	ENST00000269305.4	37	c.645	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954051	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	5.28	-4.05	0.03998	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	0.99806	0.9916	M	0.90705	3.14	0.58432	D	0.999995	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	0.98563	1.0642	10	0.87932	D	0	-18.3023	12.3136	0.54942	0.7185:0.0:0.2815:0.0	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215R;ENSP00000352610:S215R;ENSP00000269305:S215R;ENSP00000398846:S215R;ENSP00000391127:S215R;ENSP00000391478:S215R;ENSP00000425104:S83R;ENSP00000423862:S122R	ENSP00000269305:S215R	S	-	3	2	TP53	7518929	0.000000	0.05858	0.557000	0.28306	0.964000	0.63967	-1.515000	0.02252	-0.649000	0.05430	-0.468000	0.05107	AGT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578204	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.959	C	C	7578204	A	C	7578204	3	2	173	1	0	0	0	0	1	0	0	0	16388	156	6	5	649	5	TP53	17	7578204	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09		7578204	73617006	71	12182											
RAI1	10743	genome.wustl.edu	37	chr17	17697102	17697102	+	Frame_Shift_Del	DEL	G	G	-													ctcagctatgaccagcagcaGcagcagcagcagcagcagca					rs398124422|rs34083643|rs398124421|rs587780431		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:17697102delG	ENST00000353383.1	+	3	1309	c.840delG	c.(838-840)cagfs	p.Q291fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.Q291fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	291	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.Q280fs*84(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACcagcagcagcagcagcagc	0.627																																																	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000108557						20	25	23					17																	17697102		2038	4033	6071	RAI1	SO:0001589	frameshift_variant	0				HGNC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.840delG	17.37:g.17697102delG	ENSP00000323074:p.Gln291fs	Somatic	0	48	0		0.655363380285002	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	18.18	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL							smart_Znf_PHD	p.Q280fs	ENST00000353383.1	37	c.840	CCDS11188.1	17																																																																																			-	NULL		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	protein_coding	OTTHUMT00000131775.1	G	NM_030665			17697102	1	no_errors	ENST00000353383	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	17697102	G	-	17697102	7	5	173	1	0	1	0	1	0	0	0	0	13015	962	34	0	842	0	RAI1	17	17697102	Frame_Shift_Del	DEL	G	TCGA-K1-A6RV-01A-11D-A32I-09	10118898	17697102	63498108	72	12183											
AOC3	8639	genome.wustl.edu	37	chr17	41007484	41007484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggctgtgacccagcGgaaggaggaggagcccagta	16	11	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:41007484G>A	ENST00000308423.2	+	3	2070	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	AOC3_ENST00000591562.1_Missense_Mutation_p.R94Q	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	637					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTGACCCAGCGGAAGGAGGAG	0.547																																					NSCLC(3;192 220 10664 11501 16477)												0								ENSG00000131471						53	52	52					17																	41007484		2203	4300	6503	AOC3	SO:0001583	missense	0			-	HGNC	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1910G>A	17.37:g.41007484G>A	ENSP00000312326:p.Arg637Gln	Somatic	0	58	0		0.655363380285002	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	50.00	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP							pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R637Q	ENST00000308423.2	37	c.1910	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169719	0.78452	.	.	ENSG00000131471	ENST00000308423	T	0.03663	3.85	4.97	2.98	0.34508	Copper amine oxidase, C-terminal (3);	0.177207	0.48767	N	0.000169	T	0.10465	0.0256	L	0.55213	1.73	0.44523	D	0.99747	D	0.89917	1.0	D	0.63877	0.919	T	0.13495	-1.0507	10	0.27082	T	0.32	.	11.2398	0.48962	0.1485:0.0:0.8515:0.0	.	637	Q16853	AOC3_HUMAN	Q	637	ENSP00000312326:R637Q	ENSP00000312326:R637Q	R	+	2	0	AOC3	38261010	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	4.115000	0.57865	0.697000	0.31718	0.650000	0.86243	CGG	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.547	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	protein_coding	OTTHUMT00000452444.1	G	NM_003734	-		41007484	1	no_errors	ENST00000308423	ensembl	human	known	74_37	missense	SNP	0.964	A	A	41007484	G	A	41007484	3	1	173	1	0	0	0	0	1	0	0	0	728	1116	39	1	1920	1	AOC3	17	41007484	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	23310382	41007484	40187726	73	12184											
BRCA1	672	genome.wustl.edu	37	chr17	41245740	41245740	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattctttttaggtgcttttGaattgtggatatttaattcg	8	3	1	1	rs80359886|rs397508909		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:41245740G>T	ENST00000357654.3	-	10	1926	c.1808C>A	c.(1807-1809)tCa>tAa	p.S603*	BRCA1_ENST00000493795.1_Nonsense_Mutation_p.S556*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.S603*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.S603*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.S307*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.S603*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	603					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|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 vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGTGCTTTTGAATTGTGGAT	0.378			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0								ENSG00000012048						79	82	81					17																	41245740		2202	4299	6501	BRCA1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1808C>A	17.37:g.41245740G>T	ENSP00000350283:p.Ser603*	Somatic	0	82	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP							pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.S603*	ENST00000357654.3	37	c.1808	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829169	0.71258	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	.	.	.	5.02	4.02	0.46733	.	0.321067	0.22883	N	0.054497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9104	5.2128	0.15327	0.1605:0.0:0.6537:0.1859	.	.	.	.	X	603;603;603;603;307;603;556;603;577	.	ENSP00000310938:S307X	S	-	2	0	BRCA1	38499266	0.887000	0.30362	0.985000	0.45067	0.673000	0.39480	2.312000	0.43726	2.618000	0.88619	0.462000	0.41574	TCA	-	pirsf_BRCA1		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	protein_coding	OTTHUMT00000348798.2	G	NM_007294	-		41245740	-1	no_errors	ENST00000471181	ensembl	human	known	74_37	nonsense	SNP	0.295	T	T	41245740	G	T	41245740	4	4	173	1	0	0	0	0	0	1	0	0	1500	1294	45	3	3909	3	BRCA1	17	41245740	Nonsense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	238256	41245740	39949470	74	12185											
ARHGAP27	201176	genome.wustl.edu	37	chr17	43481440	43481440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttggtgcgatggagcaccCctgccttgtccaaggtcttg	12	12	2	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:43481440C>A	ENST00000428638.1	-	7	1501	c.1502G>T	c.(1501-1503)gGg>gTg	p.G501V	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G160V|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.G279V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G160V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G479V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G133V|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G474V			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATGGAGCACCCCTGCCTTGTC	0.592																																																	0								ENSG00000159314						72	69	70					17																	43481440		2203	4300	6503	ARHGAP27	SO:0001583	missense	0			-	HGNC	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1502G>T	17.37:g.43481440C>A	ENSP00000403323:p.Gly501Val	Somatic	0	29	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.G501V	ENST00000428638.1	37	c.1502		17	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590304	0.66105	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	D;D;D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51	5.45	5.45	0.79879	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.99396	0.9787	M	0.90759	3.145	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	0.98816	1.0745	10	0.87932	D	0	.	16.8198	0.85743	0.0:1.0:0.0:0.0	.	279;474;501	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	V	279;160;133;479;501;474;160	ENSP00000432762:G279V;ENSP00000366121:G160V;ENSP00000431591:G133V;ENSP00000433942:G479V;ENSP00000403323:G501V;ENSP00000409330:G474V;ENSP00000408235:G160V	ENSP00000366121:G160V	G	-	2	0	ARHGAP27	40837223	0.999000	0.42202	0.989000	0.46669	0.301000	0.27625	5.943000	0.70211	2.837000	0.97791	0.591000	0.81541	GGG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.592	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	protein_coding		C	NM_199282	-		43481440	-1	no_errors	ENST00000428638	ensembl	human	known	74_37	missense	SNP	0.998	A	A	43481440	C	A	43481440	3	1	173	1	0	0	0	0	1	0	0	0	876	623	22	3	1211	3	ARHGAP27	17	43481440	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	2235700	43481440	37713770	75	12186											
BCAS3	54828	genome.wustl.edu	37	chr17	59104259	59104260	+	Frame_Shift_Ins	INS	-	-	A													ggagcggggtgtttttccatINSaaaagccccatggtgagttc							TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:59104259_59104260insA	ENST00000390652.5	+	17	1701_1702	c.1670_1671insA	c.(1669-1674)ataaaafs	p.IK557fs	BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000585744.1_Frame_Shift_Ins_p.IK328fs|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000588462.1_Frame_Shift_Ins_p.IK557fs|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000589222.1_Intron	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTTTTTCCATAAAAGCCCCAT	0.386																																																	0								ENSG00000141376																																			BCAS3	SO:0001589	frameshift_variant	0				HGNC	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1674dupA	17.37:g.59104263_59104263dupA	ENSP00000375067:p.Ile557fs	Somatic	0	110	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33		Frame_Shift_Ins	INS							pfam_BCAS3,pfam_WD40_repeat	p.A559fs	ENST00000390652.5	37	c.1670_1671	CCDS45749.1	17																																																																																			-	pfam_BCAS3		0.386	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	protein_coding	OTTHUMT00000449578.1	-	NM_017679			59104260	1	no_errors	ENST00000390652	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	59104260	-	A	59104259	7	5	173	1	0	1	1	0	0	0	0	0	1352	1406	49	0	1732	0	BCAS3	17	59104259	Frame_Shift_Ins	INS	-	TCGA-K1-A6RV-01A-11D-A32I-09	15622819	59104259	22090951	76	12187											
SDK2	54549	genome.wustl.edu	37	chr17	71431719	71431719	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgcgctgccggaagcgGgtcaacttctccacctccac	10	16	2	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr17:71431719G>C	ENST00000392650.3	-	9	1065	c.1065C>G	c.(1063-1065)acC>acG	p.T355T	SDK2_ENST00000388726.3_Silent_p.T355T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	355	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GCCGGAAGCGGGTCAACTTCT	0.672																																																	0								ENSG00000069188						49	34	39					17																	71431719		2199	4293	6492	SDK2	SO:0001819	synonymous_variant	0			-	HGNC	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.1065C>G	17.37:g.71431719G>C		Somatic	0	90	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T355	ENST00000392650.3	37	c.1065	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922899	0.18056	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.83	1.09	0.20402	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.39060	D	0.960516	.	.	.	.	.	.	T	0.57791	-0.7750	4	.	.	.	.	11.2959	0.49277	0.0:0.1036:0.5677:0.3287	.	.	.	.	A	260	.	.	P	-	1	0	SDK2	68943314	0.221000	0.23642	0.553000	0.28255	0.965000	0.64279	-0.529000	0.06186	0.407000	0.25591	0.555000	0.69702	CCG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.672	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064	-		71431719	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	silent	SNP	0.054	C	C	71431719	G	C	71431719	2	2	173	1	0	0	0	0	0	0	0	1	13977	1219	43	4		4	SDK2	17	71431719	Silent	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	12327460	71431719	9763491	77	12188											
LRRC30	339291	genome.wustl.edu	37	chr18	7231877	7231877	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aacaatgacatccagaccctCccgagcgaactccacctgct	6	17	0	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr18:7231877C>A	ENST00000383467.2	+	1	755	c.741C>A	c.(739-741)ctC>ctA	p.L247L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	247										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCAGACCCTCCCGAGCGAAC	0.562																																																	0								ENSG00000206422						72	76	75					18																	7231877		2038	4199	6237	LRRC30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.741C>A	18.37:g.7231877C>A		Somatic	0	49	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L247	ENST00000383467.2	37	c.741	CCDS42409.1	18																																																																																			-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.562	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	C	XM_292678	-		7231877	1	no_errors	ENST00000383467	ensembl	human	known	74_37	silent	SNP	0.196	A	A	7231877	C	A	7231877	2	1	173	1	0	0	0	0	0	0	0	1	8987	842	30	3		3	LRRC30	18	7231877	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09		7231877	70845371	78	12189											
DSG2	1829	genome.wustl.edu	37	chr18	29116347	29116347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttctccgtcattgacAaaccacctggcatggcagaa	8	12	3	2			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr18:29116347A>G	ENST00000261590.8	+	11	1815	c.1606A>G	c.(1606-1608)Aaa>Gaa	p.K536E		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	536					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)			CGTCATTGACAAACCACCTGG	0.418																																																	0								ENSG00000046604						65	64	64					18																	29116347		1904	4140	6044	DSG2	SO:0001583	missense	0			-	HGNC	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.1606A>G	18.37:g.29116347A>G	ENSP00000261590:p.Lys536Glu	Somatic	0	49	0		0.655363380285002	6	53.85	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	Q4KKU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.K536E	ENST00000261590.8	37	c.1606	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	A	5.059	0.196644	0.09599	.	.	ENSG00000046604	ENST00000261590	T	0.59906	0.23	5.8	0.358	0.16084	.	0.642460	0.15013	N	0.285447	T	0.20861	0.0502	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30001	-0.9993	10	0.02654	T	1	.	5.373	0.16150	0.37:0.1773:0.4527:0.0	.	536	Q14126	DSG2_HUMAN	E	536	ENSP00000261590:K536E	ENSP00000261590:K536E	K	+	1	0	DSG2	27370345	0.190000	0.23276	0.016000	0.15963	0.316000	0.28119	0.841000	0.27613	0.057000	0.16193	0.482000	0.46254	AAA	-	superfamily_Cadherin-like		0.418	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	A	NM_001943	-		29116347	1	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	SNP	0.011	G	G	29116347	A	G	29116347	3	3	173	1	0	0	0	0	1	0	0	0	4779	131	5	5	1648	5	DSG2	18	29116347	Missense_Mutation	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09	21884470	29116347	48960901	79	12190											
MBD3L1	85509	genome.wustl.edu	37	chr19	8953829	8953829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatatcaggaaacaggaaGggaaagtgaagacagtcaga	13	4	2	4			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr19:8953829G>T	ENST00000595891.1	+	3	706	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	MBD3L1_ENST00000305625.2_Missense_Mutation_p.G159W			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GAAACAGGAAGGGAAAGTGAA	0.493																																																	0								ENSG00000170948						44	40	41					19																	8953829		2203	4300	6503	MBD3L1	SO:0001583	missense	0			-	HGNC	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"methyl-CpG binding domain protein 3-like"	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.475G>T	19.37:g.8953829G>T	ENSP00000471575:p.Gly159Trp	Somatic	0	32	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B5BUM6|Q2M291	Missense_Mutation	SNP							NULL	p.G159W	ENST00000595891.1	37	c.475	CCDS12209.1	19	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.038667	0.02013	.	.	ENSG00000170948	ENST00000305625	T	0.41400	1.0	3.92	-1.94	0.07571	.	0.686997	0.12234	N	0.487128	T	0.19805	0.0476	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11567	-1.0582	10	0.39692	T	0.17	-11.3074	1.617	0.02705	0.4781:0.1334:0.257:0.1315	.	159	Q8WWY6	MB3L1_HUMAN	W	159	ENSP00000304198:G159W	ENSP00000304198:G159W	G	+	1	0	MBD3L1	8814829	0.000000	0.05858	0.187000	0.23214	0.078000	0.17371	-0.367000	0.07553	-0.949000	0.03663	-3.842000	0.00018	GGG	-	NULL		0.493	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L1	protein_coding	OTTHUMT00000459973.1	G	NM_145208	-		8953829	1	no_errors	ENST00000305625	ensembl	human	known	74_37	missense	SNP	0.298	T	T	8953829	G	T	8953829	3	4	173	1	0	0	0	0	1	0	0	0	9347	1000	35	3	477	3	MBD3L1	19	8953829	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09		8953829	50175154	80	12191											
AP1M1	8907	genome.wustl.edu	37	chr19	16339600	16339600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaaagccagttcaagcGgcggtcaacagccaacaacg	11	13	2	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr19:16339600G>A	ENST00000291439.3	+	9	1357	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	AP1M1_ENST00000444449.2_Missense_Mutation_p.R315Q|AP1M1_ENST00000541844.1_Missense_Mutation_p.R231Q|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Missense_Mutation_p.R231Q	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	303	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.		R -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R303Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAGTTCAAGCGGCGGTCAACA	0.622																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000072958						120	85	97					19																	16339600		2203	4300	6503	AP1M1	SO:0001583	missense	0			-	HGNC		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.908G>A	19.37:g.16339600G>A	ENSP00000291439:p.Arg303Gln	Somatic	0	82	0		0.655363380285002	111	43.37	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	43	41.10	Q4TTY5	Missense_Mutation	SNP							pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.R315Q	ENST00000291439.3	37	c.944	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783147	0.90282	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844	T;T;T	0.20200	2.09;2.09;2.09	3.64	3.64	0.41730	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	M	0.74258	2.255	0.80722	D	1	P;D	0.59767	0.593;0.986	B;P	0.50109	0.15;0.631	T	0.22521	-1.0214	10	0.32370	T	0.25	-32.8258	14.4911	0.67651	0.0:0.0:1.0:0.0	.	315;303	Q4TTY5;Q9BXS5	.;AP1M1_HUMAN	Q	315;303;231	ENSP00000388996:R315Q;ENSP00000291439:R303Q;ENSP00000445682:R231Q	ENSP00000291439:R303Q	R	+	2	0	AP1M1	16200600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.257000	0.65473	1.871000	0.54225	0.561000	0.74099	CGG	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu		0.622	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	protein_coding	OTTHUMT00000460492.1	G	NM_032493	-		16339600	1	no_errors	ENST00000444449	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16339600	G	A	16339600	3	1	173	1	0	0	0	0	1	0	0	0	734	1116	39	1	982	1	AP1M1	19	16339600	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	7385771	16339600	42789383	81	12192											
ZNF234	10780	genome.wustl.edu	37	chr19	44661690	44661691	+	Frame_Shift_Del	DEL	AG	AG	-													attcattgtaggatccacacAggggagaaaccatataattg							TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr19:44661690_44661691delAG	ENST00000426739.2	+	6	1779_1780	c.1521_1522delAG	c.(1519-1524)acagggfs	p.G508fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.G508fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	508					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGATCCACACAGGGGAGAAACC	0.446																																																	0								ENSG00000263002		,	1,4113		0,1,2056					,	3	0.9			76	1,8193		0,1,4096	no	frameshift,frameshift	ZNF234	NM_006630.2,NM_001144824.1	,	0,2,6152	A1A1,A1R,RR		0.0122,0.0243,0.0162	,	,		2,12306				ZNF234	SO:0001589	frameshift_variant	0				HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1521_1522delAG	19.37:g.44661690_44661691delAG	ENSP00000400878:p.Gly508fs	Somatic	0	83	0		0.655363380285002	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	83	29.06	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K510fs	ENST00000426739.2	37	c.1521_1522	CCDS46101.1	19																																																																																			-	pfscan_Znf_C2H2		0.446	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	AG				44661691	1	no_errors	ENST00000426739	ensembl	human	known	74_37	frame_shift_del	DEL	0.360:0.998	-	-	44661691	AG	-	44661690	7	5	173	1	0	1	0	1	0	0	0	0	17794	175	7	0	1535	0	ZNF234	19	44661690	Frame_Shift_Del	DEL	AG	TCGA-K1-A6RV-01A-11D-A32I-09	28322090	44661690	14467293	82	12193											
KLC3	147700	genome.wustl.edu	37	chr19	45851923	45851923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaccagaacaagtacaaaGaagccacagaccttctccat	8	12	1	3			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr19:45851923G>A	ENST00000391946.2	+	6	901	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	KLC3_ENST00000585434.1_Missense_Mutation_p.E266K|KLC3_ENST00000470402.1_Missense_Mutation_p.E281K	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	267					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAAGTACAAAGAAGCCACAGA	0.657																																																	0								ENSG00000104892						24	31	29					19																	45851923		1948	4131	6079	KLC3	SO:0001583	missense	0			-	HGNC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.799G>A	19.37:g.45851923G>A	ENSP00000375810:p.Glu267Lys	Somatic	0	81	0		0.655363380285002	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	74	28.85	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP							pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E281K	ENST00000391946.2	37	c.841	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704327	0.88924	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.76578	-1.03;-1.03	3.05	3.05	0.35203	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.066735	0.56097	D	0.000026	D	0.82559	0.5063	L	0.58302	1.8	0.80722	D	1	P;P;D	0.53745	0.953;0.953;0.962	P;P;P	0.60345	0.742;0.799;0.873	D	0.84664	0.0708	10	0.87932	D	0	-9.5214	12.345	0.55116	0.0:0.0:1.0:0.0	.	266;281;267	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	K	267;281	ENSP00000375810:E267K;ENSP00000436019:E281K	ENSP00000375810:E267K	E	+	1	0	KLC3	50543763	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	9.419000	0.97397	2.026000	0.59711	0.491000	0.48974	GAA	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.657	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	protein_coding	OTTHUMT00000289776.1	G	NM_145275	-		45851923	1	no_errors	ENST00000470402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45851923	G	A	45851923	3	1	173	1	0	0	0	0	1	0	0	0	8337	943	33	2	817	2	KLC3	19	45851923	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	1190233	45851923	13277060	83	12194											
TGM3	7053	genome.wustl.edu	37	chr20	2298099	2298099	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactacgaccccatgggAaaccccctggacaagggtag	12	12	0	0			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr20:2298099A>G	ENST00000381458.5	+	7	1014	c.951A>G	c.(949-951)ggA>ggG	p.G317G	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	317					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCCCATGGGAAACCCCCTGG	0.512																																																	0								ENSG00000125780						218	203	208					20																	2298099		2203	4300	6503	TGM3	SO:0001819	synonymous_variant	0			-	HGNC	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.951A>G	20.37:g.2298099A>G		Somatic	0	75	0		0.655363380285002	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G317	ENST00000381458.5	37	c.951	CCDS33435.1	20																																																																																			-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.512	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	protein_coding	OTTHUMT00000077579.2	A	NM_003245	-		2298099	1	no_errors	ENST00000381458	ensembl	human	known	74_37	silent	SNP	0.088	G	G	2298099	A	G	2298099	2	3	173	1	0	0	0	0	0	0	0	1	15838	233	9	5		5	TGM3	20	2298099	Silent	SNP	A	TCGA-K1-A6RV-01A-11D-A32I-09		2298099	60727421	84	12195											
GZF1	64412	genome.wustl.edu	37	chr20	23345161	23345161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtccgcaaagacttcatGgcccacaaggcagtgctggc	13	12	1	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr20:23345161G>A	ENST00000338121.5	+	2	218	c.141G>A	c.(139-141)atG>atA	p.M47I	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.M47I|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAGACTTCATGGCCCACAAGG	0.488																																																	0								ENSG00000125812						84	78	80					20																	23345161		2203	4300	6503	GZF1	SO:0001583	missense	0			-	HGNC	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.141G>A	20.37:g.23345161G>A	ENSP00000338290:p.Met47Ile	Somatic	0	65	0		0.655363380285002	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	24	53.85	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M47I	ENST00000338121.5	37	c.141	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	5.667	0.307639	0.10733	.	.	ENSG00000125812	ENST00000338121;ENST00000424216;ENST00000377051	T;T	0.66995	-0.24;-0.24	5.33	4.37	0.52481	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.241738	0.35646	N	0.003062	T	0.52240	0.1722	L	0.32530	0.975	0.80722	D	1	B	0.24483	0.104	B	0.21917	0.037	T	0.50890	-0.8774	10	0.38643	T	0.18	.	9.229	0.37425	0.0784:0.1437:0.7779:0.0	.	47	Q9H116	GZF1_HUMAN	I	47	ENSP00000338290:M47I;ENSP00000366250:M47I	ENSP00000338290:M47I	M	+	3	0	GZF1	23293161	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	0.680000	0.25306	2.517000	0.84864	0.650000	0.86243	ATG	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.488	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	protein_coding	OTTHUMT00000078333.1	G	NM_022482	-		23345161	1	no_errors	ENST00000338121	ensembl	human	known	74_37	missense	SNP	0.979	A	A	23345161	G	A	23345161	3	1	173	1	0	0	0	0	1	0	0	0	6916	1348	47	2	143	2	GZF1	20	23345161	Missense_Mutation	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09	21047062	23345161	39680359	85	12196											
JPH2	57158	genome.wustl.edu	37	chr20	42789014	42789014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtactccgtagccatggCgcatgccgttggtgaactgg	15	11	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr20:42789014C>T	ENST00000372980.3	-	2	1285	c.413G>A	c.(412-414)cGc>cAc	p.R138H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	138	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTAGCCATGGCGCATGCCGTT	0.711																																																	0								ENSG00000149596						22	12	15					20																	42789014		2086	4080	6166	JPH2	SO:0001583	missense	0			-	HGNC	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.413G>A	20.37:g.42789014C>T	ENSP00000362071:p.Arg138His	Somatic	0	76	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	32	63.64	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP							pfam_MORN,smart_MORN,pirsf_Junctophilin	p.R138H	ENST00000372980.3	37	c.413	CCDS13325.1	20	.	.	.	.	.	.	.	.	.	.	c	21.3	4.133132	0.77662	.	.	ENSG00000149596	ENST00000372980	T	0.60040	0.22	3.34	3.34	0.38264	.	0.000000	0.85682	U	0.000000	T	0.73032	0.3535	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77981	-0.2383	10	0.87932	D	0	.	14.8586	0.70362	0.0:1.0:0.0:0.0	.	138	Q9BR39	JPH2_HUMAN	H	138	ENSP00000362071:R138H	ENSP00000362071:R138H	R	-	2	0	JPH2	42222428	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.241000	0.78201	1.700000	0.51204	0.306000	0.20318	CGC	-	pfam_MORN,smart_MORN,pirsf_Junctophilin		0.711	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	protein_coding	OTTHUMT00000080307.1	C		-		42789014	-1	no_errors	ENST00000372980	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42789014	C	T	42789014	3	4	173	1	0	0	0	0	1	0	0	0	7963	768	27	1	1693	1	JPH2	20	42789014	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	19443853	42789014	20236506	86	12197											
CHRNA4	1137	genome.wustl.edu	37	chr20	61982044	61982044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagaagagcggcagccgcCggatgacgaaggcataggtg	17	8	0	3	rs78695425	byFrequency	TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr20:61982044C>T	ENST00000370263.4	-	5	940	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	240					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGGCAGCCGCCGGATGACGAA	0.607																																																	0								ENSG00000101204						210	162	178					20																	61982044		2203	4299	6502	CHRNA4	SO:0001583	missense	0			-	HGNC		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.719G>A	20.37:g.61982044C>T	ENSP00000359285:p.Arg240Gln	Somatic	0	27	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R240Q	ENST00000370263.4	37	c.719	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.214450	0.95104	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79033	-1.23	4.91	4.91	0.64330	Neurotransmitter-gated ion-channel ligand-binding (3);	0.052668	0.64402	N	0.000001	D	0.87289	0.6140	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.802	D	0.88888	0.3344	10	0.87932	D	0	.	18.0833	0.89449	0.0:1.0:0.0:0.0	.	169;240	Q4VAQ5;P43681	.;ACHA4_HUMAN	Q	146;240;169	ENSP00000359285:R240Q	ENSP00000359280:R146Q	R	-	2	0	CHRNA4	61452488	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.913000	0.69957	2.240000	0.73641	0.655000	0.94253	CGG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.607	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	protein_coding	OTTHUMT00000080508.3	C		rs78695425		61982044	-1	no_errors	ENST00000370263	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61982044	C	T	61982044	3	4	173	1	0	0	0	0	1	0	0	0	3387	652	23	1	1172	1	CHRNA4	20	61982044	Missense_Mutation	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09	19193030	61982044	1043476	87	12198											
BID	637	genome.wustl.edu	37	chr22	18220804	18220804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggctaagctcctcacGtaggtgcgtaggttctggtt	12	9	3	0	rs146712574	byFrequency	TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chr22:18220804G>A	ENST00000399774.3	-	5	724	c.555C>T	c.(553-555)taC>taT	p.Y185Y	BID_ENST00000342111.5_3'UTR|BID_ENST00000317361.7_Silent_p.Y231Y|BID_ENST00000399765.1_Silent_p.Y89Y|BID_ENST00000399767.1_Silent_p.Y89Y|BID_ENST00000551952.1_Silent_p.Y185Y|BID_ENST00000473439.1_5'Flank	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		AGCTCCTCACGTAGGTGCGTA	0.552													G|||	4	0.000798722	0.003	0	5008	,	,		20123	0		0	False		,,,				2504	0																0								ENSG00000015475	G	,,	7,4399	12.9+/-30.5	0,7,2196	113	114	114		555,693,267	-8.4	0.4	22	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous,coding-synonymous	BID	NM_001196.3,NM_197966.2,NM_197967.2	,,	0,9,6494	AA,AG,GG		0.0233,0.1589,0.0692	,,	185/196,231/242,89/100	18220804	9,12997	2203	4300	6503	BID	SO:0001819	synonymous_variant	0			-	HGNC	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"Endogenous ligands"	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.555C>T	22.37:g.18220804G>A		Somatic	0	58	0		0.655363380285002	169	38.77	107	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	30	41.18	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Silent	SNP							pfam_BID	p.Y231	ENST00000399774.3	37	c.693	CCDS13748.1	22																																																																																			-	pfam_BID		0.552	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BID	protein_coding	OTTHUMT00000316178.1	G	NM_197966	rs146712574		18220804	-1	no_errors	ENST00000317361	ensembl	human	known	74_37	silent	SNP	0.406	A	A	18220804	G	A	18220804	2	1	173	1	0	0	0	0	0	0	0	1	1430	1140	40	1		1	BID	22	18220804	Silent	SNP	G	TCGA-K1-A6RV-01A-11D-A32I-09		18220804	33083762	88	12199											
NUDT10	170685	genome.wustl.edu	37	chrX	51075934	51075934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgttagtgagtagcagCcggtacccggaccgctggat	14	11	0	1			TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chrX:51075934C>T	ENST00000376006.3	+	2	337	c.117C>T	c.(115-117)agC>agT	p.S39S	NUDT10_ENST00000356450.2_Silent_p.S39S	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGAGTAGCAGCCGGTACCCGG	0.697																																					NSCLC(90;1817 2035 37909 38249)												0								ENSG00000122824						22	23	22					X																	51075934		2201	4298	6499	NUDT10	SO:0001819	synonymous_variant	0			-	HGNC	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.117C>T	X.37:g.51075934C>T		Somatic	0	153	0		0.655363380285002	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	110	29	78.57	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.S39	ENST00000376006.3	37	c.117	CCDS35278.1	X																																																																																			-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.697	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	protein_coding	OTTHUMT00000056578.1	C	NM_153183	-		51075934	1	no_errors	ENST00000356450	ensembl	human	known	74_37	silent	SNP	0.980	T	T	51075934	C	T	51075934	2	4	173	1	0	0	0	0	0	0	0	1	10728	738	26	2		2	NUDT10	23	51075934	Silent	SNP	C	TCGA-K1-A6RV-01A-11D-A32I-09		51075934	104194626	89	12200											
MAMLD1	10046	genome.wustl.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-K1-A6RV-01A-11D-A32I-09	TCGA-K1-A6RV-10A-01D-A32I-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde49939-fe43-4058-b143-4997914ebfe9	f92cf376-b51a-4720-bd93-faed5da32efb	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																																	3	Substitution - coding silent(3)	kidney(3)						ENSG00000013619																																			MAMLD1	SO:0001651	inframe_deletion	0				HGNC	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del	Somatic	0	18	0		0.655363380285002	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL							NULL	p.Q472in_frame_del	ENST00000370401.2	37	c.1405_1407	CCDS14693.2	X																																																																																			-	NULL		0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	protein_coding	OTTHUMT00000060844.2	CAG	NM_005491			149639327	1	no_errors	ENST00000432680	ensembl	human	known	74_37	in_frame_del	DEL	0.006:0.000:0.000	-	-	149639327	CAG	-	149639325	7	5	173	1	0	1	0	1	0	0	0	0	9210	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-K1-A6RV-01A-11D-A32I-09	98563391	149639325	5631235	90	12201											
CHD5	26038	genome.wustl.edu	37	chr1	6186708	6186708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccaggttgcgggccagGtcctcctgctgctgctcata	12	14	1	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr1:6186708G>T	ENST00000262450.3	-	26	4101	c.4002C>A	c.(4000-4002)gaC>gaA	p.D1334E	CHD5_ENST00000378021.1_Missense_Mutation_p.D191E	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCGGGCCAGGTCCTCCTGCT	0.637																																																	0								ENSG00000116254						109	76	87					1																	6186708		2203	4300	6503	CHD5	SO:0001583	missense	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4002C>A	1.37:g.6186708G>T	ENSP00000262450:p.Asp1334Glu	Somatic	0	85	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1334E	ENST00000262450.3	37	c.4002	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491790	0.64074	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90504	-2.68;2.35	4.4	3.49	0.39957	Domain of unknown function DUF1087 (1);	0.000000	0.64402	D	0.000001	D	0.92001	0.7466	L	0.58583	1.82	0.40796	D	0.983294	D;P	0.63046	0.992;0.616	D;P	0.76071	0.987;0.573	D	0.88969	0.3399	10	0.27082	T	0.32	-39.1544	6.126	0.20180	0.3511:0.0:0.6489:0.0	.	1334;191	Q8TDI0;Q5TG85	CHD5_HUMAN;.	E	1334;850;191;742;742;191	ENSP00000262450:D1334E;ENSP00000367260:D191E	ENSP00000262450:D1334E	D	-	3	2	CHD5	6109295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.872000	0.28037	0.981000	0.38548	-0.254000	0.11334	GAC	-	pfam_DUF1087		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	G	NM_015557	-		6186708	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6186708	G	T	6186708	3	4	174	1	0	0	0	0	1	0	0	0	3330	1252	44	3	1926	3	CHD5	1	6186708	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		6186708	243063913	1	12202											
BCL9	607	genome.wustl.edu	37	chr1	147096599	147096599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctacacccaccctgggCctgtgggctctccaggcatg	12	16	2	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr1:147096599C>A	ENST00000234739.3	+	10	4860	c.4120C>A	c.(4120-4122)Cct>Act	p.P1374T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1374	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCACCCTGGGCCTGTGGGCTC	0.642			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0								ENSG00000116128						34	38	36					1																	147096599		2203	4300	6503	BCL9	SO:0001583	missense	0			-	HGNC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.4120C>A	1.37:g.147096599C>A	ENSP00000234739:p.Pro1374Thr	Somatic	0	29	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	Q5T489	Missense_Mutation	SNP							pfam_BCL9_beta-catenin-bd_dom	p.P1374T	ENST00000234739.3	37	c.4120	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611426	0.66558	.	.	ENSG00000116128	ENST00000234739	T	0.57595	0.39	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.63107	-0.6711	10	0.62326	D	0.03	-9.3341	18.9922	0.92798	0.0:1.0:0.0:0.0	.	1374;1374	Q1JQ81;O00512	.;BCL9_HUMAN	T	1374	ENSP00000234739:P1374T	ENSP00000234739:P1374T	P	+	1	0	BCL9	145563223	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.769000	0.85360	2.486000	0.83907	0.650000	0.86243	CCT	-	NULL		0.642	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	protein_coding	OTTHUMT00000039468.1	C	NM_004326	-		147096599	1	no_errors	ENST00000234739	ensembl	human	known	74_37	missense	SNP	1.000	A	A	147096599	C	A	147096599	3	1	174	1	0	0	0	0	1	0	0	0	1381	739	26	3	4146	3	BCL9	1	147096599	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	140909891	147096599	102154022	2	12203											
CGN	57530	genome.wustl.edu	37	chr1	151497206	151497206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggggaaacagcgagtAgaggagcagctgaggctgcg	19	6	0	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr1:151497206A>G	ENST00000271636.7	+	8	1591	c.1458A>G	c.(1456-1458)gtA>gtG	p.V486V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	480	Glu-rich.				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)			AACAGCGAGTAGAGGAGCAGC	0.567																																																	0								ENSG00000143375						26	27	27					1																	151497206		2203	4300	6503	CGN	SO:0001819	synonymous_variant	0			-	HGNC	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.1458A>G	1.37:g.151497206A>G		Somatic	0	56	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	14.00	A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP							pfam_Myosin_tail	p.V486	ENST00000271636.7	37	c.1458	CCDS999.1	1																																																																																			-	NULL		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	protein_coding	OTTHUMT00000034900.3	A	NM_020770	-		151497206	1	no_errors	ENST00000271636	ensembl	human	known	74_37	silent	SNP	0.957	G	G	151497206	A	G	151497206	2	3	174	1	0	0	0	0	0	0	0	1	3305	407	15	5		5	CGN	1	151497206	Silent	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	4400607	151497206	97753415	3	12204											
DUSP27	92235	genome.wustl.edu	37	chr1	167095964	167095964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccagttccttctacaaCttctgcagcaggaacaagga	10	11	2	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr1:167095964C>T	ENST00000361200.2	+	6	1762	c.1596C>T	c.(1594-1596)aaC>aaT	p.N532N	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.N532N|DUSP27_ENST00000271385.5_Silent_p.N532N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	532					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTTCTACAACTTCTGCAGCA	0.542																																																	0								ENSG00000198842						88	84	85					1																	167095964		2203	4300	6503	DUSP27	SO:0001819	synonymous_variant	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1596C>T	1.37:g.167095964C>T		Somatic	0	32	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	A0AUM4|Q9C074	Silent	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.N532	ENST00000361200.2	37	c.1596	CCDS30932.1	1																																																																																			-	NULL		0.542	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	C	NM_001080426	-		167095964	1	no_errors	ENST00000271385	ensembl	human	known	74_37	silent	SNP	1.000	T	T	167095964	C	T	167095964	2	4	174	1	0	0	0	0	0	0	0	1	4826	564	20	2		2	DUSP27	1	167095964	Silent	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	15598758	167095964	82154657	4	12205											
RYR2	6262	genome.wustl.edu	37	chr1	237806668	237806668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccatcagaattaggtcCattttgagatccctcattcc	7	11	2	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr1:237806668C>T	ENST00000366574.2	+	48	7580	c.7263C>T	c.(7261-7263)tcC>tcT	p.S2421S	RYR2_ENST00000360064.6_Silent_p.S2419S|RYR2_ENST00000542537.1_Silent_p.S2405S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2421	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTAGGTCCATTTTGAGAT	0.418																																																	0								ENSG00000198626						211	199	203					1																	237806668		1885	4102	5987	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7263C>T	1.37:g.237806668C>T		Somatic	0	59	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	32	39.62	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S2419	ENST00000366574.2	37	c.7257	CCDS55691.1	1																																																																																			-	NULL		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035	-		237806668	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	0.943	T	T	237806668	C	T	237806668	2	4	174	1	0	0	0	0	0	0	0	1	13777	581	21	2		2	RYR2	1	237806668	Silent	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	70710704	237806668	11443953	5	12206											
YPEL5	51646	genome.wustl.edu	37	chr2	30381615	30381615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgccactgaagacaGccagcgatataaggaaggcc	12	9	0	3			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr2:30381615G>T	ENST00000379520.3	+	5	776	c.272G>T	c.(271-273)aGc>aTc	p.S91I	YPEL5_ENST00000379519.3_Missense_Mutation_p.S91I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.S91I|YPEL5_ENST00000261353.4_Missense_Mutation_p.S91I|YPEL5_ENST00000402003.3_Missense_Mutation_p.S91I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	91										NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACTGAAGACAGCCAGCGATAT	0.502																																																	0								ENSG00000119801						131	105	114					2																	30381615		2203	4300	6503	YPEL5	SO:0001583	missense	0			-	HGNC	AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.272G>T	2.37:g.30381615G>T	ENSP00000368835:p.Ser91Ile	Somatic	0	34	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Missense_Mutation	SNP							pfam_Yippee/Mis18	p.S91I	ENST00000379520.3	37	c.272	CCDS1771.1	2	.	.	.	.	.	.	.	.	.	.	.	19.90	3.911980	0.72983	.	.	ENSG00000119801	ENST00000379520;ENST00000379519;ENST00000261353;ENST00000402003;ENST00000402708	.	.	.	5.63	5.63	0.86233	Methionine sulphoxide reductase B (1);	0.067600	0.85682	D	0.000000	T	0.81148	0.4762	M	0.88775	2.98	0.80722	D	1	P	0.40619	0.724	P	0.49451	0.611	D	0.83903	0.0291	9	0.72032	D	0.01	-3.7964	18.6977	0.91607	0.0:0.0:1.0:0.0	.	91	P62699	YPEL5_HUMAN	I	91	.	ENSP00000261353:S91I	S	+	2	0	YPEL5	30235119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.806000	0.86020	2.652000	0.90054	0.655000	0.94253	AGC	-	pfam_Yippee/Mis18		0.502	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YPEL5	protein_coding	OTTHUMT00000215128.1	G	NM_016061	-		30381615	1	no_errors	ENST00000261353	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30381615	G	T	30381615	3	4	174	1	0	0	0	0	1	0	0	0	17500	971	34	3	278	3	YPEL5	2	30381615	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		30381615	212817758	6	12207											
SOS1	6654	genome.wustl.edu	37	chr2	39241104	39241104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagctatgcgatcagcttctGttggctcaggctctggaatt	11	9	4	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr2:39241104G>T	ENST00000426016.1	-	13	2053	c.1967C>A	c.(1966-1968)aCa>aAa	p.T656K	SOS1_ENST00000395038.2_Missense_Mutation_p.T656K|SOS1_ENST00000402219.2_Missense_Mutation_p.T656K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	656	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)			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)				ATCAGCTTCTGTTGGCTCAGG	0.348									Noonan syndrome																																								0								ENSG00000115904						66	66	66					2																	39241104		2203	4300	6503	SOS1	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	-	HGNC	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.1967C>A	2.37:g.39241104G>T	ENSP00000387784:p.Thr656Lys	Somatic	0	26	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K2G3|B4DXG2	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T656K	ENST00000426016.1	37	c.1967	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573907	0.45902	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.48201	0.82;0.82;0.82	5.82	5.82	0.92795	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.108893	0.64402	D	0.000012	T	0.46151	0.1378	L	0.48642	1.525	0.80722	D	1	B	0.31435	0.323	B	0.36922	0.236	T	0.28870	-1.0030	10	0.26408	T	0.33	.	15.5573	0.76208	0.0:0.1373:0.8627:0.0	.	656	Q07889	SOS1_HUMAN	K	656;656;388;656;656	ENSP00000387784:T656K;ENSP00000384675:T656K;ENSP00000378479:T656K	ENSP00000263879:T656K	T	-	2	0	SOS1	39094608	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.822000	0.55708	2.739000	0.93911	0.655000	0.94253	ACA	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.348	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	protein_coding	OTTHUMT00000219948.3	G	NM_005633	-		39241104	-1	no_errors	ENST00000402219	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39241104	G	T	39241104	3	4	174	1	0	0	0	0	1	0	0	0	14944	1377	48	3	2082	3	SOS1	2	39241104	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	8859489	39241104	203958269	7	12208											
TTN	7273	genome.wustl.edu	37	chr2	179440976	179440976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgagtgattctgagggCggttcctgtggtatctttta	13	6	2	3			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr2:179440976C>T	ENST00000591111.1	-	276	65184	c.64960G>A	c.(64960-64962)Gcc>Acc	p.A21654T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A23295T|TTN_ENST00000342992.6_Missense_Mutation_p.A20727T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A14230T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A14355T|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A14422T|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21654	Fibronectin type-III 57. {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)			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)			ATTCTGAGGGCGGTTCCTGTG	0.473																																																	0								ENSG00000155657						73	73	73					2																	179440976		1900	4128	6028	TTN	SO:0001583	missense	0			-	HGNC	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.64960G>A	2.37:g.179440976C>T	ENSP00000465570:p.Ala21654Thr	Somatic	0	11	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	4	50.00	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A20727T	ENST00000591111.1	37	c.62179		2	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169627	0.21621	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.87	4.09	0.47781	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32346	0.0826	N	0.05031	-0.125	0.35998	D	0.837176	B;B;B;B	0.14012	0.009;0.009;0.009;0.009	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.28808	-1.0032	9	0.87932	D	0	.	11.5342	0.50628	0.1252:0.8102:0.0:0.0646	.	14230;14355;14422;21654	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	20727;14230;14422;14355;14228	ENSP00000343764:A20727T;ENSP00000434586:A14230T;ENSP00000340554:A14422T;ENSP00000352154:A14355T	ENSP00000340554:A14422T	A	-	1	0	TTN	179149222	0.983000	0.35010	0.490000	0.27465	0.559000	0.35586	2.590000	0.46154	0.833000	0.34828	-0.152000	0.13540	GCC	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179440976	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.948	T	T	179440976	C	T	179440976	3	4	174	1	0	0	0	0	1	0	0	0	16742	768	27	1	38244	1	TTN	2	179440976	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	140199872	179440976	63758397	8	12209											
TTN	7273	genome.wustl.edu	37	chr2	179664458	179664459	+	Splice_Site	DEL	TC	TC	-													atcaaagtgggcttcaatctTctgtaaaagattaaaacaaa							TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr2:179664458_179664459delTC	ENST00000591111.1	-	6	894	c.670delGA	c.(670-672)gaa>aa	p.E224fs	TTN_ENST00000589042.1_Splice_Site_p.E224fs|TTN_ENST00000342992.6_Splice_Site_p.E224fs|TTN_ENST00000360870.5_Splice_Site_p.E224fs|TTN_ENST00000460472.2_Splice_Site_p.E224fs|TTN_ENST00000359218.5_Splice_Site_p.E224fs|TTN_ENST00000342175.6_Splice_Site_p.E224fs			Q8WZ42	TITIN_HUMAN	titin	33898					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)			GCTTCAATCTTCTGTAAAAGAT	0.446																																																	0								ENSG00000155657																																			TTN	SO:0001630	splice_region_variant	0				HGNC	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.670-1GA>-	2.37:g.179664458_179664459delTC		Somatic	0	32	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	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	Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K224fs	ENST00000591111.1	37	c.670		2																																																																																			-	NULL		0.446	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	TC	NM_133378		Frame_Shift_Del	179664459	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	179664459	TC	-	179664458	8	5	174	1	0	1	0	1	0	0	1	0	16742	1797	62	0	110746	0	TTN	2	179664458	Splice_Site	DEL	TC	TCGA-KD-A5QS-01A-11D-A27P-09	223482	179664458	63534915	9	12210											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883262	228883262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctaagtggagagctgcTggaggattcagtggcttttg	15	5	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr2:228883262T>C	ENST00000392056.3	-	7	2354	c.2308A>G	c.(2308-2310)Agc>Ggc	p.S770G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S770G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	770						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)		GGAGAGCTGCTGGAGGATTCA	0.498																																																	0								ENSG00000153820						193	193	193					2																	228883262		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.2308A>G	2.37:g.228883262T>C	ENSP00000375909:p.Ser770Gly	Somatic	0	51	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.S770G	ENST00000392056.3	37	c.2308	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	T	3.955	-0.011527	0.07727	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13307	2.6;2.6	5.67	0.452	0.16634	.	0.538057	0.22248	N	0.062585	T	0.11537	0.0281	L	0.55481	1.735	0.09310	N	1	B;B	0.33171	0.006;0.4	B;B	0.33960	0.004;0.173	T	0.15983	-1.0418	10	0.42905	T	0.14	.	5.1039	0.14773	0.1265:0.3007:0.0:0.5728	.	770;770	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	G	770	ENSP00000375909:S770G;ENSP00000339886:S770G	ENSP00000339886:S770G	S	-	1	0	SPHKAP	228591506	0.194000	0.23325	0.001000	0.08648	0.122000	0.20287	0.385000	0.20685	-0.080000	0.12685	0.533000	0.62120	AGC	-	NULL		0.498	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	T	NM_030623	-		228883262	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.011	C	C	228883262	T	C	228883262	3	2	174	1	0	0	0	0	1	0	0	0	15055	1580	55	5	2818	5	SPHKAP	2	228883262	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	49218804	228883262	14316111	10	12211											
SP140	11262	genome.wustl.edu	37	chr2	231112669	231112669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagatgcggcaaggacaTacagcacagcaccaggggag	14	9	0	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr2:231112669T>C	ENST00000392045.3	+	8	895	c.781T>C	c.(781-783)Tac>Cac	p.Y261H	SP140_ENST00000350136.5_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.Y235H|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.Y261H|SP140_ENST00000417495.3_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	261					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCAAGGACATACAGCACAGC	0.453																																																	0								ENSG00000079263						164	164	164					2																	231112669		1987	4168	6155	SP140	SO:0001583	missense	0			-	HGNC	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.781T>C	2.37:g.231112669T>C	ENSP00000375899:p.Tyr261His	Somatic	0	13	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP							pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.Y261H	ENST00000392045.3	37	c.781	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	T	0.199	-1.046441	0.01997	.	.	ENSG00000079263	ENST00000392044;ENST00000392045;ENST00000343805;ENST00000420434	T;T;T	0.59638	0.7;0.25;0.67	1.71	-0.859	0.10685	.	.	.	.	.	T	0.27489	0.0675	N	0.08118	0	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	0.16012	-1.0417	9	0.15066	T	0.55	.	2.3443	0.04268	0.0:0.1973:0.3078:0.4949	.	261;235;261;261	E7EUR5;E9PFJ6;Q13342;E7EX75	.;.;LY10_HUMAN;.	H	261;261;235;261	ENSP00000375899:Y261H;ENSP00000342096:Y235H;ENSP00000398210:Y261H	ENSP00000342096:Y235H	Y	+	1	0	SP140	230820913	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.738000	0.04871	-0.214000	0.10078	0.260000	0.18958	TAC	-	NULL		0.453	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	protein_coding	OTTHUMT00000332015.1	T	NM_007237	-		231112669	1	no_errors	ENST00000392045	ensembl	human	known	74_37	missense	SNP	0.000	C	C	231112669	T	C	231112669	3	2	174	1	0	0	0	0	1	0	0	0	14970	1406	49	5	928	5	SP140	2	231112669	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	2229407	231112669	12086704	11	12212											
KAT2B	8850	genome.wustl.edu	37	chr3	20153214	20153214	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgacaactcctggaacaAgcaagacaggaaaaagataa	10	8	0	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr3:20153214A>G	ENST00000263754.4	+	6	1433	c.978A>G	c.(976-978)caA>caG	p.Q326Q		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	326					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)			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						TCCTGGAACAAGCAAGACAGG	0.453																																																	0								ENSG00000114166						137	119	125					3																	20153214		2203	4300	6503	KAT2B	SO:0001819	synonymous_variant	0			-	HGNC	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.978A>G	3.37:g.20153214A>G		Somatic	0	68	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	76	23.23	Q6NSK1	Silent	SNP							pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.Q326	ENST00000263754.4	37	c.978	CCDS2634.1	3																																																																																			-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N		0.453	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	protein_coding	OTTHUMT00000252880.1	A	NM_003884	-		20153214	1	no_errors	ENST00000263754	ensembl	human	known	74_37	silent	SNP	1.000	G	G	20153214	A	G	20153214	2	3	174	1	0	0	0	0	0	0	0	1	7984	69	3	5		5	KAT2B	3	20153214	Silent	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09		20153214	177869216	12	12213											
TFDP2	7029	genome.wustl.edu	37	chr3	141713978	141713978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttagtctctgtggtgtgctTataatctgtaaagttaggaa	11	4	2	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr3:141713978T>C	ENST00000489671.1	-	5	622	c.192A>G	c.(190-192)atA>atG	p.I64M	TFDP2_ENST00000479040.1_Missense_Mutation_p.I3M|TFDP2_ENST00000310282.6_Missense_Mutation_p.I3M|TFDP2_ENST00000317104.7_Missense_Mutation_p.I3M|TFDP2_ENST00000397991.4_Missense_Mutation_p.I36M|TFDP2_ENST00000495310.1_Intron|TFDP2_ENST00000499676.2_Missense_Mutation_p.I3M|TFDP2_ENST00000477292.1_Intron|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000486111.1_Missense_Mutation_p.I3M|TFDP2_ENST00000467072.1_Missense_Mutation_p.I3M			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	64			I -> T.		gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						GTGGTGTGCTTATAATCTGTA	0.373																																																	0								ENSG00000114126						78	72	74					3																	141713978		1822	4085	5907	TFDP2	SO:0001583	missense	0			-	HGNC	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.192A>G	3.37:g.141713978T>C	ENSP00000420616:p.Ile64Met	Somatic	0	44	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	81	14.74	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP							pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.I64M	ENST00000489671.1	37	c.192	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073134	0.76415	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000497579;ENST00000488107;ENST00000475734;ENST00000494358;ENST00000467634	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52983	1.55;1.66;1.55;1.55;1.55;1.55;1.55;1.5;1.31;1.31;1.16;0.77;0.64;1.11	5.4	5.4	0.78164	.	0.054564	0.64402	D	0.000001	T	0.57577	0.2063	L	0.61218	1.895	0.47441	D	0.999427	D;D	0.56521	0.976;0.96	P;P	0.51918	0.624;0.684	T	0.62959	-0.6743	10	0.72032	D	0.01	-6.7658	15.4271	0.75061	0.0:0.0:0.0:1.0	.	64;3	Q14188;Q14188-5	TFDP2_HUMAN;.	M	3;64;3;3;3;3;3;36;3;3;3;3;3;64	ENSP00000439782:I3M;ENSP00000420616:I64M;ENSP00000420599:I3M;ENSP00000418590:I3M;ENSP00000315668:I3M;ENSP00000309622:I3M;ENSP00000417585:I3M;ENSP00000381078:I36M;ENSP00000417726:I3M;ENSP00000417220:I3M;ENSP00000420456:I3M;ENSP00000417108:I3M;ENSP00000420657:I3M;ENSP00000419540:I64M	ENSP00000309622:I3M	I	-	3	3	TFDP2	143196668	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.668000	0.68074	2.036000	0.60181	0.533000	0.62120	ATA	-	pirsf_Transcrpt_fac_DP		0.373	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	protein_coding	OTTHUMT00000353294.4	T	NM_006286	-		141713978	-1	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141713978	T	C	141713978	3	2	174	1	0	0	0	0	1	0	0	0	15805	1744	61	5	1187	5	TFDP2	3	141713978	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	121560764	141713978	56308452	13	12214											
ATP10D	57205	genome.wustl.edu	37	chr4	47548647	47548647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttatcccacagccaggaGgttggagtcctatcaggaag	11	9	1	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:47548647G>A	ENST00000273859.3	+	10	1672	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	ATP10D_ENST00000504445.1_Missense_Mutation_p.R453K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	468					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGCCAGGAGGTTGGAGTCC	0.458																																																	0								ENSG00000145246						99	97	98					4																	47548647		2203	4300	6503	ATP10D	SO:0001583	missense	0			-	HGNC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1403G>A	4.37:g.47548647G>A	ENSP00000273859:p.Arg468Lys	Somatic	0	32	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R468K	ENST00000273859.3	37	c.1403	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690377	0.88735	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.66280	-0.2;0.92	4.84	4.84	0.62591	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.77486	2.375	0.29873	N	0.826649	P;B	0.42649	0.786;0.06	P;B	0.51297	0.665;0.094	T	0.75368	-0.3342	10	0.66056	D	0.02	-14.9422	17.0897	0.86618	0.0:0.0:1.0:0.0	.	468;453	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	468;453	ENSP00000273859:R468K;ENSP00000420909:R453K	ENSP00000273859:R468K	R	+	2	0	ATP10D	47243404	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	8.180000	0.89694	2.513000	0.84729	0.491000	0.48974	AGG	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	protein_coding	OTTHUMT00000216900.1	G	NM_020453	-		47548647	1	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47548647	G	A	47548647	3	1	174	1	0	0	0	0	1	0	0	0	1118	1000	35	2	1437	2	ATP10D	4	47548647	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		47548647	143605629	14	12215											
ODAM	54959	genome.wustl.edu	37	chr4	71063870	71063870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagacacaaccaggccccaGtcacgtaagtcaggcctctt	8	15	4	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:71063870G>T	ENST00000396094.2	+	4	419	c.371G>T	c.(370-372)aGt>aTt	p.S124I		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	124	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CCAGGCCCCAGTCACGTAAGT	0.478																																																	0								ENSG00000109205						71	73	73					4																	71063870		1902	4116	6018	ODAM	SO:0001583	missense	0			-	HGNC	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.371G>T	4.37:g.71063870G>T	ENSP00000379401:p.Ser124Ile	Somatic	0	18	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP							NULL	p.S124I	ENST00000396094.2	37	c.371	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	1.954	-0.440458	0.04636	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.45276	0.9;0.9	4.99	0.969	0.19686	.	.	.	.	.	T	0.28001	0.0690	N	0.22421	0.69	0.09310	N	1	B	0.19445	0.036	B	0.24155	0.051	T	0.26189	-1.0110	9	0.56958	D	0.05	.	7.1781	0.25757	0.7304:0.0:0.2696:0.0	.	124	A1E959	ODAM_HUMAN	I	124;110;77	ENSP00000379401:S124I;ENSP00000426106:S77I	ENSP00000379401:S124I	S	+	2	0	ODAM	71098459	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.141000	0.31528	0.037000	0.15575	-1.456000	0.01031	AGT	-	NULL		0.478	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	protein_coding	OTTHUMT00000251562.1	G	NM_017855	-		71063870	1	no_errors	ENST00000396094	ensembl	human	known	74_37	missense	SNP	0.001	T	T	71063870	G	T	71063870	3	4	174	1	0	0	0	0	1	0	0	0	10826	1029	36	3	385	3	ODAM	4	71063870	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	23515223	71063870	120090406	15	12216											
ENAM	10117	genome.wustl.edu	37	chr4	71509722	71509722	+	Frame_Shift_Del	DEL	A	A	-													accaagttacccatcaggtcAaaaagaagcacatttatttc							TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:71509722delA	ENST00000396073.3	+	9	2860	c.2579delA	c.(2578-2580)caafs	p.Q860fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	860					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCATCAGGTCAAAAAGAAGCA	0.443																																																	0								ENSG00000132464						100	98	98					4																	71509722		2203	4300	6503	ENAM	SO:0001589	frameshift_variant	0				HGNC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2579delA	4.37:g.71509722delA	ENSP00000379383:p.Gln860fs	Somatic	0	12	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	Q17RI5|Q9H3D1	Frame_Shift_Del	DEL							NULL	p.E862fs	ENST00000396073.3	37	c.2579	CCDS3544.2	4																																																																																			-	NULL		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	A	NM_031889			71509722	1	no_errors	ENST00000396073	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	71509722	A	-	71509722	7	5	174	1	0	1	0	1	0	0	0	0	5114	130	5	0	2609	0	ENAM	4	71509722	Frame_Shift_Del	DEL	A	TCGA-KD-A5QS-01A-11D-A27P-09	445852	71509722	119644554	16	12217											
MTTP	4547	genome.wustl.edu	37	chr4	100543870	100543870	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgaaaggctgtccacaggCagaggttatgtctctcagaa	11	9	2	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:100543870C>A	ENST00000265517.5	+	18	2753	c.2550C>A	c.(2548-2550)ggC>ggA	p.G850G	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.G877G|MTTP_ENST00000457717.1_Silent_p.G850G			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	850					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TGTCCACAGGCAGAGGTTATG	0.433																																																	0								ENSG00000138823						128	127	127					4																	100543870		2203	4300	6503	MTTP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2550C>A	4.37:g.100543870C>A		Somatic	0	35	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	11	69.44	A8K428|Q08AM4|Q6P5T3	Silent	SNP							pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G850	ENST00000265517.5	37	c.2550	CCDS3651.1	4																																																																																			-	NULL		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	C		-		100543870	1	no_errors	ENST00000265517	ensembl	human	known	74_37	silent	SNP	0.981	A	A	100543870	C	A	100543870	2	1	174	1	0	0	0	0	0	0	0	1	9966	697	25	3		3	MTTP	4	100543870	Silent	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	29034148	100543870	90610406	17	12218											
CENPE	1062	genome.wustl.edu	37	chr4	104061997	104061997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggtttcttgcaggctttCcttgagttggtctctctcca	9	10	3	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:104061997C>T	ENST00000265148.3	-	36	5817	c.5728G>A	c.(5728-5730)Gaa>Aaa	p.E1910K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1885K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1910					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCAGGCTTTCCTTGAGTTGG	0.383																																																	0								ENSG00000138778						134	118	124					4																	104061997		2203	4300	6503	CENPE	SO:0001583	missense	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5728G>A	4.37:g.104061997C>T	ENSP00000265148:p.Glu1910Lys	Somatic	0	50	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	37	47.89	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1910K	ENST00000265148.3	37	c.5728	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	6.138	0.393698	0.11638	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72051	-0.62;-0.62	5.21	2.39	0.29439	.	.	.	.	.	T	0.54224	0.1845	L	0.31578	0.945	0.09310	N	1	B;B	0.18610	0.029;0.001	B;B	0.15052	0.012;0.005	T	0.37009	-0.9724	9	0.23891	T	0.37	.	7.4791	0.27393	0.0:0.616:0.2282:0.1558	.	1885;1910	Q02224-3;Q02224	.;CENPE_HUMAN	K	1910;1910;1885	ENSP00000265148:E1910K;ENSP00000369365:E1885K	ENSP00000265148:E1910K	E	-	1	0	CENPE	104281446	0.000000	0.05858	0.070000	0.20053	0.005000	0.04900	0.074000	0.14662	0.702000	0.31825	-0.154000	0.13518	GAA	-	NULL		0.383	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		C		-		104061997	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	SNP	0.035	T	T	104061997	C	T	104061997	3	4	174	1	0	0	0	0	1	0	0	0	3232	864	30	2	2433	2	CENPE	4	104061997	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	3518127	104061997	87092279	18	12219											
TRPC3	7222	genome.wustl.edu	37	chr4	122828635	122828635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttgcagggaggatgtacGcaatccgagagaagctgagc	14	8	0	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:122828635G>T	ENST00000379645.3	-	7	1953	c.1880C>A	c.(1879-1881)gCg>gAg	p.A627E	TRPC3_ENST00000513531.1_Missense_Mutation_p.A499E|TRPC3_ENST00000264811.5_Missense_Mutation_p.A554E	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	542					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A554V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGGATGTACGCAATCCGAGA	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000138741						110	108	109					4																	122828635		2203	4299	6502	TRPC3	SO:0001583	missense	0			-	HGNC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1880C>A	4.37:g.122828635G>T	ENSP00000368966:p.Ala627Glu	Somatic	0	24	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A627E	ENST00000379645.3	37	c.1880	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025980	0.93518	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98585	-5.01;-5.01;-5.01	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	0.993;0.997;1.0	D;D;D	0.87578	0.965;0.965;0.998	D	0.99529	1.0960	10	0.56958	D	0.05	-40.157	19.4029	0.94637	0.0:0.0:1.0:0.0	.	542;499;627	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	E	554;627;499	ENSP00000264811:A554E;ENSP00000368966:A627E;ENSP00000426899:A499E	ENSP00000264811:A554E	A	-	2	0	TRPC3	123048085	1.000000	0.71417	0.930000	0.37139	0.929000	0.56500	9.753000	0.98904	2.571000	0.86741	0.655000	0.94253	GCG	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.453	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	protein_coding	OTTHUMT00000364252.1	G	NM_003305	-		122828635	-1	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122828635	G	T	122828635	3	4	174	1	0	0	0	0	1	0	0	0	16586	1087	38	3	909	3	TRPC3	4	122828635	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	18766638	122828635	68325641	19	12220											
AADAT	51166	genome.wustl.edu	37	chr4	170988488	170988488	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatacaatacctgtctacatGagccatgaaaccttcttctc	5	12	3	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr4:170988488G>T	ENST00000337664.4	-	9	1228	c.952C>A	c.(952-954)Cat>Aat	p.H318N	AADAT_ENST00000353187.2_Missense_Mutation_p.H318N|AADAT_ENST00000515480.1_Missense_Mutation_p.H318N|AADAT_ENST00000509167.1_Missense_Mutation_p.H322N	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	318					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CTGTCTACATGAGCCATGAAA	0.348																																																	0								ENSG00000109576						90	87	88					4																	170988488		2203	4300	6503	AADAT	SO:0001583	missense	0			-	HGNC	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.952C>A	4.37:g.170988488G>T	ENSP00000336808:p.His318Asn	Somatic	0	38	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B3KP84|Q9UL02	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.H322N	ENST00000337664.4	37	c.964	CCDS3814.1	4	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235399	0.58886	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.93	5.93	0.95920	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.74575	-0.3620	10	0.49607	T	0.09	-17.8809	20.3311	0.98718	0.0:0.0:1.0:0.0	.	322;318	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	N	318;318;322;318	ENSP00000336808:H318N;ENSP00000423341:H318N;ENSP00000423190:H322N;ENSP00000226840:H318N	ENSP00000336808:H318N	H	-	1	0	AADAT	171225063	1.000000	0.71417	0.996000	0.52242	0.077000	0.17291	8.871000	0.92346	2.797000	0.96272	0.655000	0.94253	CAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.348	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	protein_coding	OTTHUMT00000362952.1	G	NM_016228	-		170988488	-1	no_errors	ENST00000509167	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170988488	G	T	170988488	3	4	174	1	0	0	0	0	1	0	0	0	14	1290	45	3	345	3	AADAT	4	170988488	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	48159853	170988488	20165788	20	12221											
SV2C	22987	genome.wustl.edu	37	chr5	75427805	75427805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacgaaggctcaagtgAagccactgaggggcatgatg	15	8	1	4			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr5:75427805A>G	ENST00000502798.2	+	2	672	c.230A>G	c.(229-231)gAa>gGa	p.E77G	SV2C_ENST00000322285.7_Missense_Mutation_p.E77G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	77					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCTCAAGTGAAGCCACTGAG	0.512																																																	0								ENSG00000122012						79	82	81					5																	75427805		2100	4249	6349	SV2C	SO:0001583	missense	0			-	HGNC	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.230A>G	5.37:g.75427805A>G	ENSP00000423541:p.Glu77Gly	Somatic	0	32	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	Q496K1|Q9UPU8	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.E77G	ENST00000502798.2	37	c.230	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066484	0.55539	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.30448	1.53;1.53	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);	0.049903	0.85682	D	0.000000	T	0.28466	0.0704	L	0.36672	1.1	0.80722	D	1	B	0.28933	0.228	B	0.29077	0.098	T	0.03981	-1.0987	10	0.48119	T	0.1	-26.5101	16.075	0.80962	1.0:0.0:0.0:0.0	.	77	Q496J9	SV2C_HUMAN	G	77	ENSP00000423541:E77G;ENSP00000316983:E77G	ENSP00000316983:E77G	E	+	2	0	SV2C	75463561	1.000000	0.71417	0.857000	0.33713	0.500000	0.33767	9.339000	0.96797	2.195000	0.70347	0.533000	0.62120	GAA	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2		0.512	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	protein_coding	OTTHUMT00000368700.4	A		-		75427805	1	no_errors	ENST00000502798	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75427805	A	G	75427805	3	3	174	1	0	0	0	0	1	0	0	0	15426	246	9	5	232	5	SV2C	5	75427805	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09		75427805	105487455	21	12222											
PCDHA1	56147	genome.wustl.edu	37	chr5	140167415	140167415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtcagtgcacgcggagAgcggcaaggtgtacgcactg	16	10	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr5:140167415A>G	ENST00000504120.2	+	1	1540	c.1540A>G	c.(1540-1542)Agc>Ggc	p.S514G	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S514G|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S514G	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	514	Cadherin 5. {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)|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)			GCACGCGGAGAGCGGCAAGGT	0.697																																																	0								ENSG00000204970						73	75	74					5																	140167415		2203	4300	6503	PCDHA1	SO:0001583	missense	0			-	HGNC	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.1540A>G	5.37:g.140167415A>G	ENSP00000420840:p.Ser514Gly	Somatic	0	170	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	66	35.92	O75288|Q9NRT7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S514G	ENST00000504120.2	37	c.1540	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	a	22.2	4.263661	0.80358	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.53640	0.61;0.61;0.61	3.63	3.63	0.41609	Cadherin (5);Cadherin-like (1);	0.000000	0.49916	U	0.000138	T	0.70116	0.3187	M	0.87381	2.88	0.28427	N	0.917459	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.74023	0.973;0.924;0.982	T	0.67810	-0.5574	10	0.87932	D	0	.	12.5955	0.56468	1.0:0.0:0.0:0.0	.	514;514;514	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	G	514	ENSP00000420840:S514G;ENSP00000378129:S514G;ENSP00000367373:S514G	ENSP00000367373:S514G	S	+	1	0	PCDHA1	140147599	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.761000	0.91691	1.443000	0.47586	0.449000	0.29647	AGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.697	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	A	NM_018900	-		140167415	1	no_errors	ENST00000504120	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140167415	A	G	140167415	3	3	174	1	0	0	0	0	1	0	0	0	11521	304	11	5	1542	5	PCDHA1	5	140167415	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	64739610	140167415	40747845	22	12223											
GPX5	2880	genome.wustl.edu	37	chr6	28501767	28501767	+	Frame_Shift_Del	DEL	G	G	-													cctcatccctctgagattttGggcacattcaaatctatatc							TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr6:28501767delG	ENST00000412168.2	+	5	578	c.489delG	c.(487-489)ttgfs	p.L163fs	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	163					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CTGAGATTTTGGGCACATTCA	0.458																																																	0								ENSG00000224586						182	181	181					6																	28501767		2203	4300	6503	GPX5	SO:0001589	frameshift_variant	0				HGNC	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.489delG	6.37:g.28501767delG	ENSP00000392398:p.Leu163fs	Somatic	0	90	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	61	56.43	A1A4Y0	Frame_Shift_Del	DEL							pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.G164fs	ENST00000412168.2	37	c.489	CCDS4652.1	6																																																																																			-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase		0.458	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	protein_coding	OTTHUMT00000043672.2	G				28501767	1	no_errors	ENST00000412168	ensembl	human	known	74_37	frame_shift_del	DEL	0.701	-	-	28501767	G	-	28501767	7	5	174	1	0	1	0	1	0	0	0	0	6745	1339	47	0	507	0	GPX5	6	28501767	Frame_Shift_Del	DEL	G	TCGA-KD-A5QS-01A-11D-A27P-09		28501767	142613300	23	12224											
SNAP91	9892	genome.wustl.edu	37	chr6	84311022	84311023	+	Frame_Shift_Ins	INS	-	-	T													cacttcagcagtgacagcagINStaacagttgtagtagtggag							TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr6:84311022_84311023insT	ENST00000439399.2	-	16	1607_1608	c.1291_1292insA	c.(1291-1293)actfs	p.T431fs	SNAP91_ENST00000428679.2_Frame_Shift_Ins_p.T431fs|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.T429fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.T431fs|SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.T431fs|SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.T431fs|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.T431fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	431	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTGACAGCAGTAACAGTTGTA	0.436																																																	0								ENSG00000065609																																			SNAP91	SO:0001589	frameshift_variant	0				HGNC	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1292dupA	6.37:g.84311023_84311023dupT	ENSP00000400459:p.Thr431fs	Somatic	0	59	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	43	44.16	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Ins	INS							pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.T431fs	ENST00000439399.2	37	c.1292_1291	CCDS47455.1	6																																																																																			-	NULL		0.436	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	protein_coding	OTTHUMT00000375296.1	-				84311023	-1	no_errors	ENST00000369694	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.998	T	T	84311023	-	T	84311022	7	5	174	1	0	1	1	0	0	0	0	0	14841	1029	36	0	1487	0	SNAP91	6	84311022	Frame_Shift_Ins	INS	-	TCGA-KD-A5QS-01A-11D-A27P-09	55809255	84311022	86804045	24	12225											
THEMIS	387357	genome.wustl.edu	37	chr6	128176258	128176258	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcagctatgatcttcttaActttgagaccagtaatttta	5	7	3	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr6:128176258A>T	ENST00000368248.2	-	2	315	c.167T>A	c.(166-168)gTt>gAt	p.V56D	THEMIS_ENST00000537166.1_Missense_Mutation_p.V21D|THEMIS_ENST00000543064.1_Missense_Mutation_p.V56D|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	56	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GATCTTCTTAACTTTGAGACC	0.348																																																	0								ENSG00000172673						101	99	99					6																	128176258		2203	4300	6503	THEMIS	SO:0001583	missense	0			-	HGNC	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.167T>A	6.37:g.128176258A>T	ENSP00000357231:p.Val56Asp	Somatic	0	44	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP							NULL	p.V56D	ENST00000368248.2	37	c.167	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178990	0.78564	.	.	ENSG00000172673	ENST00000543064;ENST00000368248;ENST00000537166	T;T;T	0.20332	2.08;2.08;2.58	5.43	5.43	0.79202	.	0.123070	0.52532	D	0.000063	T	0.13841	0.0335	N	0.19112	0.55	0.45914	D	0.998756	P;P	0.40875	0.731;0.484	P;P	0.47786	0.502;0.557	T	0.04307	-1.0961	10	0.87932	D	0	-12.3268	15.7605	0.78076	1.0:0.0:0.0:0.0	.	56;56	F5H1J9;Q8N1K5	.;THMS1_HUMAN	D	56;56;21	ENSP00000439594:V56D;ENSP00000357231:V56D;ENSP00000439863:V21D	ENSP00000357231:V56D	V	-	2	0	THEMIS	128217951	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.695000	0.74593	2.171000	0.68590	0.528000	0.53228	GTT	-	NULL		0.348	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	protein_coding		A	NM_001010923	-		128176258	-1	no_errors	ENST00000543064	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128176258	A	T	128176258	3	4	174	1	0	0	0	0	1	0	0	0	15867	43	2	5	1899	5	THEMIS	6	128176258	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	43865236	128176258	42938809	25	12226											
ARID1B	57492	genome.wustl.edu	37	chr6	157256633	157256633	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggctatggaactagatctCaacctcctctggcccccgga	9	14	2	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr6:157256633C>T	ENST00000350026.5	+	4	1922	c.1921C>T	c.(1921-1923)Caa>Taa	p.Q641*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q654*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q641*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q583*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	641					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AACTAGATCTCAACCTCCTCT	0.378																																																	0								ENSG00000049618						168	158	161					6																	157256633		2203	4300	6503	ARID1B	SO:0001587	stop_gained	0			-	HGNC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1921C>T	6.37:g.157256633C>T	ENSP00000055163:p.Gln641*	Somatic	0	59	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	34	61.80	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q641*	ENST00000350026.5	37	c.1921	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	39	7.659641	0.98415	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	.	.	.	5.71	5.71	0.89125	.	0.106387	0.37715	N	0.001971	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.8604	0.96781	0.0:1.0:0.0:0.0	.	.	.	.	X	654;641;641;583;62;11;140;63	.	ENSP00000275248:Q583X	Q	+	1	0	ARID1B	157298325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.989000	0.70587	2.699000	0.92147	0.650000	0.86243	CAA	-	NULL		0.378	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	protein_coding	OTTHUMT00000372723.1	C	NM_020732	-		157256633	1	no_errors	ENST00000367148	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	157256633	C	T	157256633	4	4	174	1	0	0	0	0	0	1	0	0	914	827	29	2	1978	2	ARID1B	6	157256633	Nonsense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	29080375	157256633	13858434	26	12227											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518694	113518694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagacatggtttcttccttcTccatttcatctacacgtaca	4	12	4	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr7:113518694T>C	ENST00000284601.3	-	4	2521	c.2453A>G	c.(2452-2454)gAg>gGg	p.E818G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	818					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						TTCTTCCTTCTCCATTTCATC	0.383																																																	0								ENSG00000154415						149	126	134					7																	113518694		2203	4300	6503	PPP1R3A	SO:0001583	missense	0			-	HGNC	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.2453A>G	7.37:g.113518694T>C	ENSP00000284601:p.Glu818Gly	Somatic	0	68	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP							pfam_CBM_21,pfscan_CBM_21	p.E818G	ENST00000284601.3	37	c.2453	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	8.649	0.897809	0.17686	.	.	ENSG00000154415	ENST00000284601	T	0.17370	2.28	5.92	0.378	0.16204	.	1.183250	0.06059	N	0.657929	T	0.16938	0.0407	L	0.60455	1.87	0.09310	N	1	P	0.38922	0.651	B	0.35240	0.198	T	0.28870	-1.0030	10	0.48119	T	0.1	-0.9331	6.0453	0.19755	0.139:0.3005:0.0:0.5606	.	818	Q16821	PPR3A_HUMAN	G	818	ENSP00000284601:E818G	ENSP00000284601:E818G	E	-	2	0	PPP1R3A	113305930	0.704000	0.27836	0.025000	0.17156	0.589000	0.36550	1.370000	0.34238	0.138000	0.18790	0.528000	0.53228	GAG	-	NULL		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	T	NM_002711	-		113518694	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	SNP	0.000	C	C	113518694	T	C	113518694	3	2	174	1	0	0	0	0	1	0	0	0	12376	1551	54	5	919	5	PPP1R3A	7	113518694	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09		113518694	45619969	27	12228											
KIAA1549	57670	genome.wustl.edu	37	chr7	138602589	138602589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagactccactgaaggaaCcagactataaggcgtaaaaa	9	8	0	4			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr7:138602589C>A	ENST00000422774.1	-	2	1831	c.1783G>T	c.(1783-1785)Gtt>Ttt	p.V595F	KIAA1549_ENST00000440172.1_Missense_Mutation_p.V595F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.V545F			Q9HCM3	K1549_HUMAN	KIAA1549	595	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACTGAAGGAACCAGACTATAA	0.453			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778						62	64	63					7																	138602589		1928	4133	6061	KIAA1549	SO:0001583	missense	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1783G>T	7.37:g.138602589C>A	ENSP00000416040:p.Val595Phe	Somatic	0	26	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	4	69.23	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.V595F	ENST00000422774.1	37	c.1783	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	9.418	1.082249	0.20309	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24723	1.84;1.84;1.84	3.97	2.13	0.27403	.	1.928470	0.02814	N	0.124655	T	0.20495	0.0493	N	0.19112	0.55	0.09310	N	1	P;P	0.39157	0.531;0.662	B;B	0.36845	0.118;0.234	T	0.35251	-0.9796	10	0.48119	T	0.1	.	10.3245	0.43785	0.0:0.6127:0.3873:0.0	.	595;595	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	F	595;545;595	ENSP00000406661:V595F;ENSP00000242365:V545F;ENSP00000416040:V595F	ENSP00000242365:V545F	V	-	1	0	KIAA1549	138253129	0.001000	0.12720	0.001000	0.08648	0.104000	0.19210	1.212000	0.32394	0.350000	0.24002	-0.189000	0.12847	GTT	-	NULL		0.453	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	C		-		138602589	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	0.001	A	A	138602589	C	A	138602589	3	1	174	1	0	0	0	0	1	0	0	0	8246	507	18	3	4145	3	KIAA1549	7	138602589	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	25083895	138602589	20536074	28	12229											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110437395	110437395	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaaattcatattcaaagaAttcaagctgcatctccacct	3	11	4	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr8:110437395A>T	ENST00000378402.5	+	24	2883	c.2779A>T	c.(2779-2781)Att>Ttt	p.I927F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	927					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)			TATTCAAAGAATTCAAGCTGC	0.328										HNSCC(38;0.096)																																							0								ENSG00000205038						44	45	44					8																	110437395		1836	4092	5928	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.2779A>T	8.37:g.110437395A>T	ENSP00000367655:p.Ile927Phe	Somatic	0	26	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.I927F	ENST00000378402.5	37	c.2779	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506890	0.44558	.	.	ENSG00000205038	ENST00000378402	D	0.86297	-2.1	5.16	1.39	0.22231	.	0.705359	0.13929	N	0.353026	T	0.81019	0.4736	M	0.74258	2.255	0.23309	N	0.997932	P	0.40931	0.733	B	0.34180	0.177	T	0.66575	-0.5889	10	0.10377	T	0.69	.	7.0119	0.24867	0.7244:0.0:0.2756:0.0	.	927	Q86WI1	PKHL1_HUMAN	F	927	ENSP00000367655:I927F	ENSP00000367655:I927F	I	+	1	0	PKHD1L1	110506571	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	1.088000	0.30877	0.058000	0.16222	0.455000	0.32223	ATT	-	NULL		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	A	NM_177531	-		110437395	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	0.998	T	T	110437395	A	T	110437395	3	4	174	1	0	0	0	0	1	0	0	0	11974	101	4	5	2873	5	PKHD1L1	8	110437395	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09		110437395	35926627	29	12230											
ANXA1	301	genome.wustl.edu	37	chr9	75775261	75775261	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaaactccagcgcaatTtgatgctgatgaacttcgtg	9	9	0	3			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:75775261T>A	ENST00000376911.1	+	4	1235	c.353T>A	c.(352-354)tTt>tAt	p.F118Y	ANXA1_ENST00000257497.6_Missense_Mutation_p.F118Y			P04083	ANXA1_HUMAN	annexin A1	118					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CCAGCGCAATTTGATGCTGAT	0.428																																																	0								ENSG00000135046						105	105	105					9																	75775261		2203	4300	6503	ANXA1	SO:0001583	missense	0			-	HGNC	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.353T>A	9.37:g.75775261T>A	ENSP00000366109:p.Phe118Tyr	Somatic	0	44	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99		Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.F118Y	ENST00000376911.1	37	c.353	CCDS6645.1	9	.	.	.	.	.	.	.	.	.	.	T	7.565	0.665586	0.14710	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.02890	4.12;4.12;4.12	5.92	5.92	0.95590	.	0.093121	0.85682	D	0.000000	T	0.01661	0.0053	N	0.03983	-0.305	0.45995	D	0.998807	B	0.09022	0.002	B	0.16289	0.015	T	0.41928	-0.9481	10	0.02654	T	1	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	118	P04083	ANXA1_HUMAN	Y	118;129;118	ENSP00000257497:F118Y;ENSP00000412489:F129Y;ENSP00000366109:F118Y	ENSP00000257497:F118Y	F	+	2	0	ANXA1	74965081	1.000000	0.71417	0.960000	0.40013	0.859000	0.49053	2.154000	0.42291	2.260000	0.74910	0.528000	0.53228	TTT	-	pfam_Annexin_repeat		0.428	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	protein_coding	OTTHUMT00000052665.1	T	NM_000700	-		75775261	1	no_errors	ENST00000257497	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75775261	T	A	75775261	3	1	174	1	0	0	0	0	1	0	0	0	714	1841	64	5	367	5	ANXA1	9	75775261	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09		75775261	65438170	30	12231											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88967642	88967663	+	Frame_Shift_Del	DEL	TCTTTATGAAACAGTCGTCTTA	TCTTTATGAAACAGTCGTCTTA	-													tggtttctaggcttgttaggTctttatgaaacagtcgtctt							TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	TCTTTATGAAACAGTCGTCTTA	TCTTTATGAAACAGTCGTCTTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:88967642_88967663delTCTTTATGAAACAGTCGTCTTA	ENST00000375963.3	-	2	624_645	c.452_473delTAAGACGACTGTTTCATAAAGA	c.(451-474)gtaagacgactgtttcataaagacfs	p.VRRLFHKD151fs	ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.VRRLFHKD151fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.VRRLFHKD151fs|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	151					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R152R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCTTGTTAGGTCTTTATGAAACAGTCGTCTTACAGTTCTGCA	0.414																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000083223																																			ZCCHC6	SO:0001589	frameshift_variant	0				HGNC	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.452_473delTAAGACGACTGTTTCATAAAGA	9.37:g.88967642_88967663delTCTTTATGAAACAGTCGTCTTA	ENSP00000365130:p.Val151fs	Somatic					0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL							pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V151fs	ENST00000375963.3	37	c.473_452	CCDS35057.1	9																																																																																			-	NULL		0.414	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	protein_coding	OTTHUMT00000052918.1	TCTTTATGAAACAGTCGTCTTA	NM_024617			88967663	-1	no_errors	ENST00000375963	ensembl	human	known	74_37	frame_shift_del	DEL	0.914:0.999:0.999:1.000:1.000:0.999:1.000:1.000:0.995:0.985:0.928:0.467:0.530:0.514:0.411:0.720:0.780:0.976:1.000:1.000:0.985:0.998	-	-	88967663	TCTTTATGAAACAGTCGTCTTA	-	88967642	7	5	174	1	0	1	0	1	0	0	0	0	17599	1667	58	0	4118	0	ZCCHC6	9	88967642	Frame_Shift_Del	DEL	TCTTTATGAAACAGTCGTCTTA	TCGA-KD-A5QS-01A-11D-A27P-09	13192381	88967642	52245789	31	12232											
FAM75C1	441452	genome.wustl.edu	37	chr9	90535818	90535818	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttttccaggcccagcccctGtcccatctggggcctgagtc	10	17	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:90535818G>C	ENST00000602681.1	+	0	1722							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCAGCCCCTGTCCCATCTGG	0.567																																																	0								ENSG00000230246						80	75	77					9																	90535818		692	1591	2283	SPATA31C1			0			-	HGNC	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535818G>C		Somatic	0	260	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	106	147	41.90		RNA	SNP							-	NULL	ENST00000602681.1	37	NULL		9																																																																																			-	-		0.567	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	pseudogene	OTTHUMT00000467313.1	G	NM_001145124	-		90535818	1	no_errors	ENST00000602681	ensembl	human	known	74_37	rna	SNP	0.002	C	C	90535818	G	C	90535818	1	2	174	0	1	0	0	0	0	0	0	0	5625	1364	48	4		4	FAM75C1	9	90535818	RNA	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	1568176	90535818	50677613	32	12233											
ZNF782	158431	genome.wustl.edu	37	chr9	99607255	99607255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatgtgctgccactccTcctggctgaattccacagtc	9	16	0	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:99607255T>C	ENST00000481138.1	-	4	720	c.59A>G	c.(58-60)gAg>gGg	p.E20G	ZNF782_ENST00000535338.1_Intron|ZNF782_ENST00000466833.1_Intron	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	20	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)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGCCACTCCTCCTGGCTGAA	0.502																																																	0								ENSG00000196597						81	71	74					9																	99607255		2203	4300	6503	ZNF782	SO:0001583	missense	0			-	HGNC	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.59A>G	9.37:g.99607255T>C	ENSP00000419397:p.Glu20Gly	Somatic	0	94	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	101	39.16	B2RNR0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E20G	ENST00000481138.1	37	c.59	CCDS35075.1	9	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413166	0.42817	.	.	ENSG00000196597	ENST00000481138;ENST00000478850	T;T	0.03663	3.85;3.85	3.17	3.17	0.36434	Krueppel-associated box (4);	.	.	.	.	T	0.19167	0.0460	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00516	-1.1694	9	0.87932	D	0	.	8.1297	0.31020	0.0:0.0:0.0:1.0	.	20	Q6ZMW2	ZN782_HUMAN	G	20	ENSP00000419397:E20G;ENSP00000417577:E20G	ENSP00000417577:E20G	E	-	2	0	ZNF782	98647076	0.996000	0.38824	0.996000	0.52242	0.568000	0.35870	0.628000	0.24522	1.691000	0.51100	0.533000	0.62120	GAG	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	protein_coding	OTTHUMT00000356810.1	T	NM_001001662	-		99607255	-1	no_errors	ENST00000481138	ensembl	human	known	74_37	missense	SNP	0.996	C	C	99607255	T	C	99607255	3	2	174	1	0	0	0	0	1	0	0	0	18162	1551	54	5	2052	5	ZNF782	9	99607255	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	9071437	99607255	41606176	33	12234											
KIF12	113220	genome.wustl.edu	37	chr9	116854198	116854198	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctcactgcagggtggctgGctgcggccacgtcgcaggga	16	14	1	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:116854198G>C	ENST00000374118.3	-	16	1722	c.1485C>G	c.(1483-1485)agC>agG	p.S495R	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	628	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	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(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGGGTGGCTGGCTGCGGCCAC	0.647																																																	0								ENSG00000136883						38	38	38					9																	116854198		2203	4300	6503	KIF12	SO:0001583	missense	0			-	HGNC	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1485C>G	9.37:g.116854198G>C	ENSP00000363232:p.Ser495Arg	Somatic	0	68	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	54	18.18	Q5TBE0	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S495R	ENST00000374118.3	37	c.1485	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491899	0.44352	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.72942	-0.7	3.86	2.92	0.33932	.	0.454723	0.22829	N	0.055132	T	0.50103	0.1596	N	0.17082	0.46	0.26692	N	0.971339	B	0.06786	0.001	B	0.01281	0.0	T	0.35400	-0.9790	10	0.29301	T	0.29	.	8.5055	0.33184	0.0:0.0:0.7577:0.2423	.	628	Q96FN5	KIF12_HUMAN	R	495;628	ENSP00000363232:S495R	ENSP00000259410:S628R	S	-	3	2	KIF12	115894019	0.895000	0.30542	0.925000	0.36789	0.703000	0.40648	0.419000	0.21247	1.150000	0.42419	0.442000	0.29010	AGC	-	NULL		0.647	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	protein_coding	OTTHUMT00000053751.1	G	NM_138424	-		116854198	-1	no_errors	ENST00000374118	ensembl	human	known	74_37	missense	SNP	0.931	C	C	116854198	G	C	116854198	3	2	174	1	0	0	0	0	1	0	0	0	8275	1194	42	4	60	4	KIF12	9	116854198	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	17246943	116854198	24359233	34	12235											
PAPPA	5069	genome.wustl.edu	37	chr9	119124887	119124887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggacttgggagcaatgTcattcattgccggaaagatg	13	7	3	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:119124887T>C	ENST00000328252.3	+	18	4733	c.4364T>C	c.(4363-4365)gTc>gCc	p.V1455A	PAPPA_ENST00000534838.1_Missense_Mutation_p.V493A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1455	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGCAATGTCATTCATTGC	0.488																																																	0								ENSG00000182752						119	111	114					9																	119124887		2203	4300	6503	PAPPA	SO:0001583	missense	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4364T>C	9.37:g.119124887T>C	ENSP00000330658:p.Val1455Ala	Somatic	0	26	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V1455A	ENST00000328252.3	37	c.4364	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	T	3.282	-0.146852	0.06627	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.65916	-0.18;-0.18	5.39	2.93	0.34026	Complement control module (2);Sushi/SCR/CCP (3);	0.660771	0.15481	N	0.260091	T	0.50735	0.1633	L	0.59436	1.845	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.19148	0.005;0.024	T	0.40459	-0.9562	10	0.07030	T	0.85	-3.6176	7.6237	0.28200	0.1257:0.0696:0.0:0.8047	.	493;1455	F5GZ19;Q13219	.;PAPP1_HUMAN	A	1455;493	ENSP00000330658:V1455A;ENSP00000441461:V493A	ENSP00000330658:V1455A	V	+	2	0	PAPPA	118164708	0.843000	0.29541	0.517000	0.27799	0.019000	0.09904	1.779000	0.38624	0.304000	0.22809	-0.336000	0.08194	GTC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.488	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	T	NM_002581	-		119124887	1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	SNP	0.174	C	C	119124887	T	C	119124887	3	2	174	1	0	0	0	0	1	0	0	0	11434	1667	58	5	4434	5	PAPPA	9	119124887	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	2270689	119124887	22088544	35	12236											
BRD3	8019	genome.wustl.edu	37	chr9	136905253	136905253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggccttcttctcttcctCggccttcactttgtgcttct	6	15	4	0	rs62639321		TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr9:136905253C>T	ENST00000303407.7	-	9	1731	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	BRD3_ENST00000371834.2_Missense_Mutation_p.E516K|BRD3_ENST00000473349.1_Intron|BRD3_ENST00000357885.2_Missense_Mutation_p.E516K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	516	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ttctcttcctcggccttcact	0.552			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0								ENSG00000169925						108	68	82					9																	136905253		2199	4292	6491	BRD3	SO:0001583	missense	0			-	HGNC		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1546G>A	9.37:g.136905253C>T	ENSP00000305918:p.Glu516Lys	Somatic	0	77	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	19	50.00	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E516K	ENST00000303407.7	37	c.1546	CCDS6980.1	9	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813320	0.50527	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.27890	1.64;1.64;1.64	4.71	4.71	0.59529	.	0.259960	0.32687	N	0.005774	T	0.31482	0.0798	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.97	T	0.06716	-1.0811	10	0.06891	T	0.86	-23.2329	16.974	0.86309	0.0:1.0:0.0:0.0	.	516;516	Q15059-2;Q15059	.;BRD3_HUMAN	K	516;195;516;516	ENSP00000305918:E516K;ENSP00000360900:E516K;ENSP00000350557:E516K	ENSP00000305918:E516K	E	-	1	0	BRD3	135895074	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.482000	0.81143	2.310000	0.77875	0.561000	0.74099	GAG	-	NULL		0.552	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	protein_coding	OTTHUMT00000055390.4	C	NM_007371	rs62639321		136905253	-1	no_errors	ENST00000303407	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136905253	C	T	136905253	3	4	174	1	0	0	0	0	1	0	0	0	1505	893	31	1	650	1	BRD3	9	136905253	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	17780366	136905253	4308178	36	12237											
MCM10	55388	genome.wustl.edu	37	chr10	13237231	13237231	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttatgatgagtcaccaccaCcaagaccaaaactgagtgct	7	11	1	4			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr10:13237231C>G	ENST00000484800.2	+	14	2042	c.1939C>G	c.(1939-1941)Cca>Gca	p.P647A	MCM10_ENST00000378714.3_Missense_Mutation_p.P646A|MCM10_ENST00000378694.1_Missense_Mutation_p.P646A			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	647					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						GTCACCACCACCAAGACCAAA	0.512																																																	0								ENSG00000065328						47	40	42					10																	13237231		2203	4300	6503	MCM10	SO:0001583	missense	0			-	HGNC	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.1939C>G	10.37:g.13237231C>G	ENSP00000418268:p.Pro647Ala	Somatic	0	16	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP							pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.P647A	ENST00000484800.2	37	c.1939	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139786	0.56936	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.34667	1.35;1.35;1.35	5.6	4.69	0.59074	Replication factor Mcm10 (1);	0.148812	0.64402	D	0.000007	T	0.47948	0.1473	L	0.46741	1.465	0.49299	D	0.999779	D;D;D	0.71674	0.997;0.996;0.998	D;D;D	0.74348	0.957;0.961;0.983	T	0.34601	-0.9822	10	0.16420	T	0.52	-7.852	11.8535	0.52425	0.1379:0.7296:0.1325:0.0	.	646;646;647	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	A	646;647;647;646	ENSP00000367986:P646A;ENSP00000418268:P647A;ENSP00000367966:P646A	ENSP00000354945:P647A	P	+	1	0	MCM10	13277237	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.063000	0.41423	1.485000	0.48380	-0.175000	0.13238	CCA	-	pfam_Rep_factor_Mcm10		0.512	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	protein_coding	OTTHUMT00000356853.1	C	NM_182751	-		13237231	1	no_errors	ENST00000484800	ensembl	human	known	74_37	missense	SNP	1.000	G	G	13237231	C	G	13237231	3	3	174	1	0	0	0	0	1	0	0	0	9387	507	18	4	1989	4	MCM10	10	13237231	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09		13237231	122297516	37	12238											
ALOX5	240	genome.wustl.edu	37	chr10	45939225	45939225	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtcggagtacctgacCgtggtgatcttcaccgcctc	11	14	2	2	rs375279868		TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr10:45939225C>A	ENST00000374391.2	+	12	1676	c.1623C>A	c.(1621-1623)acC>acA	p.T541T	ALOX5_ENST00000542434.1_Silent_p.T541T|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	541	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)	AGTACCTGACCGTGGTGATCT	0.701																																																	0								ENSG00000012779						39	38	39					10																	45939225		2202	4300	6502	ALOX5	SO:0001819	synonymous_variant	0			-	HGNC	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.1623C>A	10.37:g.45939225C>A		Somatic	0	75	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	32	42.86	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.T541	ENST00000374391.2	37	c.1623	CCDS7212.1	10																																																																																			-	pfam_LipOase_C,superfamily_LipOase_C		0.701	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	C		-		45939225	1	no_errors	ENST00000374391	ensembl	human	known	74_37	silent	SNP	0.000	A	A	45939225	C	A	45939225	2	1	174	1	0	0	0	0	0	0	0	1	540	639	23	3		3	ALOX5	10	45939225	Silent	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	32701994	45939225	89595522	38	12239											
EGR2	1959	genome.wustl.edu	37	chr10	64573803	64573803	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtgggtaggccagagAggaagaggtggaggtggtgg	24	2	0	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr10:64573803A>C	ENST00000242480.3	-	2	920	c.595T>G	c.(595-597)Tct>Gct	p.S199A	EGR2_ENST00000439032.1_Missense_Mutation_p.S199A|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.S149A	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	199					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGCCAGAGAGGAAGAGGTG	0.597																																																	0								ENSG00000122877						99	94	95					10																	64573803		2203	4300	6503	EGR2	SO:0001583	missense	0			-	HGNC	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.595T>G	10.37:g.64573803A>C	ENSP00000242480:p.Ser199Ala	Somatic	0	82	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP							pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S199A	ENST00000242480.3	37	c.595	CCDS7267.1	10	.	.	.	.	.	.	.	.	.	.	A	3.054	-0.194790	0.06259	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.12361	2.69;2.69;2.75	5.15	2.79	0.32731	.	0.253950	0.28624	N	0.014689	T	0.05135	0.0137	N	0.05177	-0.1	0.26778	N	0.969667	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38779	-0.9645	10	0.15952	T	0.53	-12.9997	5.6105	0.17402	0.6273:0.2742:0.0985:0.0	.	149;199	P11161-2;P11161	.;EGR2_HUMAN	A	199;199;149;212	ENSP00000242480:S199A;ENSP00000402040:S199A;ENSP00000387634:S149A	ENSP00000242480:S199A	S	-	1	0	EGR2	64243809	0.259000	0.24043	0.999000	0.59377	0.994000	0.84299	0.126000	0.15769	0.983000	0.38602	0.533000	0.62120	TCT	-	NULL		0.597	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	protein_coding	OTTHUMT00000048245.2	A	NM_000399	-		64573803	-1	no_errors	ENST00000242480	ensembl	human	known	74_37	missense	SNP	0.997	C	C	64573803	A	C	64573803	3	2	174	1	0	0	0	0	1	0	0	0	4974	304	11	5	839	5	EGR2	10	64573803	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	18634578	64573803	70960944	39	12240											
NEUROG3	50674	genome.wustl.edu	37	chr10	71332468	71332468	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgtcgtctgggaaggtgGgcaggacaccgcgcagggcg	19	11	1	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr10:71332468G>C	ENST00000242462.4	-	2	361	c.332C>G	c.(331-333)cCc>cGc	p.P111R		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	111	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGGGAAGGTGGGCAGGACACC	0.627																																																	0								ENSG00000122859						96	69	78					10																	71332468		2203	4300	6503	NEUROG3	SO:0001583	missense	0			-	HGNC	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.332C>G	10.37:g.71332468G>C	ENSP00000242462:p.Pro111Arg	Somatic	0	86	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	35	55.13	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P111R	ENST00000242462.4	37	c.332	CCDS31212.1	10	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337015	0.81801	.	.	ENSG00000122859	ENST00000242462	D	0.97378	-4.36	4.53	4.53	0.55603	Helix-loop-helix DNA-binding (5);	0.000000	0.40728	N	0.001039	D	0.98985	0.9654	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99305	1.0902	10	0.87932	D	0	-23.753	15.9925	0.80217	0.0:0.0:1.0:0.0	.	111	Q9Y4Z2	NGN3_HUMAN	R	111	ENSP00000242462:P111R	ENSP00000242462:P111R	P	-	2	0	NEUROG3	71002474	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.479000	0.97929	2.307000	0.77673	0.591000	0.81541	CCC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.627	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	protein_coding	OTTHUMT00000048464.1	G	NM_020999	-		71332468	-1	no_errors	ENST00000242462	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71332468	G	C	71332468	3	2	174	1	0	0	0	0	1	0	0	0	10356	1232	43	4	316	4	NEUROG3	10	71332468	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	6758665	71332468	64202279	40	12241											
GPR123	84435	genome.wustl.edu	37	chr10	134916200	134916200	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccgctgctcccccacaGgtgggcatcgtgctgcacta	11	16	0	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr10:134916200G>T	ENST00000392607.3	+	5	691		c.e5-1		GPR123_ENST00000392606.2_Splice_Site|GPR123_ENST00000607359.1_Splice_Site	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTCCCCCACAGGTGGGCATCG	0.622																																																	0								ENSG00000197177						39	30	33					10																	134916200		2202	4299	6501	GPR123	SO:0001630	splice_region_variant	0			-	HGNC	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.256-1G>T	10.37:g.134916200G>T		Somatic	0	113	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	9	68.75	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Splice_Site	SNP							-	e14-1	ENST00000392607.3	37	c.2416-1	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205997	0.39003	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2692	0.66140	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR123	134766190	1.000000	0.71417	0.999000	0.59377	0.364000	0.29643	8.725000	0.91468	2.047000	0.60756	0.462000	0.41574	.	-	-		0.622	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	protein_coding	OTTHUMT00000051113.2	G		-	Intron	134916200	1	no_errors	ENST00000607359	ensembl	human	putative	74_37	splice_site	SNP	1.000	T	T	134916200	G	T	134916200	5	4	174	1	0	0	0	0	0	0	1	0	6639	1014	35	3	269	3	GPR123	10	134916200	Splice_Site	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	63583732	134916200	618547	41	12242											
KNDC1	85442	genome.wustl.edu	37	chr10	135024137	135024137	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgccttcctggagggttatGtgcagcaattcctctacacc	9	12	1	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr10:135024137G>C	ENST00000304613.3	+	21	3838	c.3817G>C	c.(3817-3819)Gtg>Ctg	p.V1273L	KNDC1_ENST00000368572.2_Missense_Mutation_p.V1275L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1273	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGAGGGTTATGTGCAGCAATT	0.642																																																	0								ENSG00000171798						249	195	213					10																	135024137		2203	4300	6503	KNDC1	SO:0001583	missense	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3817G>C	10.37:g.135024137G>C	ENSP00000304437:p.Val1273Leu	Somatic	0	127	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	9	80.43	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V1275L	ENST00000304613.3	37	c.3823	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	8.689	0.907008	0.17833	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.46063	0.88;0.88	3.66	3.66	0.41972	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.078699	0.50627	U	0.000105	T	0.38241	0.1033	L	0.57536	1.79	0.35233	D	0.777066	P	0.39094	0.659	B	0.38921	0.285	T	0.49960	-0.8883	10	0.18710	T	0.47	-21.4269	13.2821	0.60222	0.0:0.0:1.0:0.0	.	1273	Q76NI1	VKIND_HUMAN	L	1273;1275	ENSP00000304437:V1273L;ENSP00000357561:V1275L	ENSP00000304437:V1273L	V	+	1	0	KNDC1	134874127	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	5.640000	0.67875	1.796000	0.52611	0.196000	0.17591	GTG	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	G	NM_152643	-		135024137	1	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135024137	G	C	135024137	3	2	174	1	0	0	0	0	1	0	0	0	8428	1377	48	4	3899	4	KNDC1	10	135024137	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	107937	135024137	510610	42	12243											
OR5T2	219464	genome.wustl.edu	37	chr11	55999957	55999957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagtagaagagtagaagCtggtttgtgtgagtgtcaga	14	3	1	5			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr11:55999957C>A	ENST00000313264.4	-	1	780	c.705G>T	c.(703-705)caG>caT	p.Q235H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q235H(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGAGTAGAAGCTGGTTTGTGT	0.423																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000181718						128	120	123					11																	55999957		2201	4296	6497	OR5T2	SO:0001583	missense	0			-	HGNC	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.705G>T	11.37:g.55999957C>A	ENSP00000323688:p.Gln235His	Somatic	0	76	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	70	36.36	B9EGX5|Q6IFC8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q235H	ENST00000313264.4	37	c.705	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	C	5.780	0.328336	0.10956	.	.	ENSG00000181718	ENST00000313264	T	0.00158	8.65	4.55	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	0.396182	0.17807	N	0.161333	T	0.00210	0.0006	L	0.52823	1.66	0.09310	N	1	B	0.31383	0.321	B	0.43728	0.429	T	0.28073	-1.0055	10	0.72032	D	0.01	.	6.2392	0.20780	0.0:0.4398:0.1289:0.4314	.	235	Q8NGG2	OR5T2_HUMAN	H	235	ENSP00000323688:Q235H	ENSP00000323688:Q235H	Q	-	3	2	OR5T2	55756533	0.000000	0.05858	0.250000	0.24296	0.034000	0.12701	-0.878000	0.04192	-0.191000	0.10448	-0.357000	0.07601	CAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	protein_coding	OTTHUMT00000391598.1	C	NM_001004746	-		55999957	-1	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	SNP	0.001	A	A	55999957	C	A	55999957	3	1	174	1	0	0	0	0	1	0	0	0	11184	796	28	3	373	3	OR5T2	11	55999957	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09		55999957	79006559	43	12244											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128844161	128844161	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatgcttcttgggcaactgtCtcatttgttttcatctttac	6	9	4	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr11:128844161C>G	ENST00000310343.9	-	20	2888	c.2889G>C	c.(2887-2889)gaG>gaC	p.E963D	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E614D|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E889D|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E614D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	963					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGCAACTGTCTCATTTGTTT	0.468																																																	0								ENSG00000134909						224	230	228					11																	128844161		2201	4297	6498	ARHGAP32	SO:0001583	missense	0			-	HGNC	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2889G>C	11.37:g.128844161C>G	ENSP00000310561:p.Glu963Asp	Somatic	0	35	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E963D	ENST00000310343.9	37	c.2889	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400613	0.25291	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.61	3.59	0.41128	.	0.295243	0.36482	N	0.002561	T	0.14141	0.0342	L	0.33485	1.01	0.23823	N	0.996743	B;B	0.15473	0.0;0.013	B;B	0.13407	0.001;0.009	T	0.17501	-1.0367	10	0.24483	T	0.36	.	8.306	0.32042	0.0:0.4695:0.4444:0.0862	.	897;963	Q86T64;A7KAX9	.;RHG32_HUMAN	D	963;614;889;897;614	ENSP00000310561:E963D;ENSP00000376425:E614D;ENSP00000432468:E889D;ENSP00000432862:E614D	ENSP00000310561:E963D	E	-	3	2	ARHGAP32	128349371	0.992000	0.36948	1.000000	0.80357	0.981000	0.71138	0.314000	0.19432	1.473000	0.48159	0.655000	0.94253	GAG	-	NULL		0.468	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	protein_coding	OTTHUMT00000386151.3	C	NM_014715	-		128844161	-1	no_errors	ENST00000310343	ensembl	human	known	74_37	missense	SNP	0.996	G	G	128844161	C	G	128844161	3	3	174	1	0	0	0	0	1	0	0	0	881	912	32	4	3386	4	ARHGAP32	11	128844161	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	72844204	128844161	6162355	44	12245											
LDHB	3945	genome.wustl.edu	37	chr12	21799948	21799956	+	Splice_Site	DEL	AGACTGTAA	AGACTGTAA	-													agagcaagttcatcagccagAgactgtaaacgcaaaaacag					rs200371155	byFrequency	TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	AGACTGTAA	AGACTGTAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr12:21799948_21799956delAGACTGTAA	ENST00000396076.1	-	3	462_464	c.130_132delTTACAGTCT	c.(130-132)ttadel	p.L45del	LDHB_ENST00000350669.1_Splice_Site_p.L45del	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	45					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CATCAGCCAGAGACTGTAAACGCAAAAAC	0.416																																																	0								ENSG00000111716																																			LDHB	SO:0001630	splice_region_variant	0				HGNC		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.130-1TTACAGTCT>-	12.37:g.21799948_21799956delAGACTGTAA		Somatic					0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1					Splice_Site	DEL							-	e2-1	ENST00000396076.1	37	c.130-6_130-1	CCDS8691.1	12																																																																																			-	-		0.416	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHB	protein_coding	OTTHUMT00000258220.2	AGACTGTAA	NM_002300		In_Frame_Del	21799956	-1	no_errors	ENST00000350669	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:0.991:0.006:0.000:0.001:0.002	-	-	21799956	AGACTGTAA	-	21799948	8	5	174	1	0	1	0	1	0	0	1	0	8703	291	11	0	896	0	LDHB	12	21799948	Splice_Site	DEL	AGACTGTAA	TCGA-KD-A5QS-01A-11D-A27P-09		21799948	112051947	45	12246											
OSBPL8	114882	genome.wustl.edu	37	chr12	76786379	76786379	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actggaagttatcaccactgTggagattgttagcacgtagt	11	7	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr12:76786379T>G	ENST00000261183.3	-	10	1390	c.911A>C	c.(910-912)cAc>cCc	p.H304P	OSBPL8_ENST00000393249.2_Missense_Mutation_p.H262P|OSBPL8_ENST00000393250.4_Missense_Mutation_p.H262P	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	304					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATCACCACTGTGGAGATTGTT	0.413																																																	0								ENSG00000091039						212	170	184					12																	76786379		2203	4300	6503	OSBPL8	SO:0001583	missense	0			-	HGNC	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.911A>C	12.37:g.76786379T>G	ENSP00000261183:p.His304Pro	Somatic	0	37	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H304P	ENST00000261183.3	37	c.911	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111652	0.37242	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.44881	1.51;1.49;1.51;0.91;0.92	5.77	5.77	0.91146	.	0.398697	0.25753	N	0.028522	T	0.35653	0.0939	L	0.38838	1.175	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.08126	-1.0737	10	0.27082	T	0.32	-8.1677	16.3948	0.83586	0.0:0.0:0.0:1.0	.	279;304	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	P	262;304;289;262;304;304;279	ENSP00000376939:H262P;ENSP00000261183:H304P;ENSP00000376940:H262P;ENSP00000450238:H304P;ENSP00000447893:H279P	ENSP00000261183:H304P	H	-	2	0	OSBPL8	75310510	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.691000	0.54720	2.326000	0.78906	0.533000	0.62120	CAC	-	NULL		0.413	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	protein_coding	OTTHUMT00000406357.1	T	NM_020841	-		76786379	-1	no_errors	ENST00000261183	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76786379	T	G	76786379	3	3	174	1	0	0	0	0	1	0	0	0	11285	1696	59	5	1818	5	OSBPL8	12	76786379	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	54986431	76786379	57065516	46	12247											
ANO4	121601	genome.wustl.edu	37	chr12	101433740	101433740	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttttatcccagggaagttAtagaagtaaaaactccattc	7	7	0	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr12:101433740A>T	ENST00000392977.3	+	11	1115	c.905A>T	c.(904-906)tAt>tTt	p.Y302F	RP11-350G24.1_ENST00000549036.1_RNA|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.Y267F			Q32M45	ANO4_HUMAN	anoctamin 4	302					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGGGAAGTTATAGAAGTAAA	0.453										HNSCC(74;0.22)																																							0								ENSG00000151572						90	94	93					12																	101433740		2203	4300	6503	ANO4	SO:0001583	missense	0			-	HGNC	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.905A>T	12.37:g.101433740A>T	ENSP00000376703:p.Tyr302Phe	Somatic	0	34	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP							pfam_Anoctamin	p.Y302F	ENST00000392977.3	37	c.905		12	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979297	0.74360	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.64803	-0.12;-0.12	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.61949	0.2388	L	0.41027	1.25	0.80722	D	1	P;P	0.48230	0.907;0.835	P;P	0.48654	0.585;0.571	T	0.60352	-0.7280	10	0.33940	T	0.23	.	16.087	0.81065	1.0:0.0:0.0:0.0	.	302;267	Q32M45;Q32M45-2	ANO4_HUMAN;.	F	267;302	ENSP00000376705:Y267F;ENSP00000376703:Y302F	ENSP00000376703:Y302F	Y	+	2	0	ANO4	99957871	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.339000	0.96797	2.202000	0.70862	0.533000	0.62120	TAT	-	NULL		0.453	ANO4-002	KNOWN	basic	protein_coding	ANO4	protein_coding	OTTHUMT00000409295.1	A	NM_178826	-		101433740	1	no_errors	ENST00000392977	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101433740	A	T	101433740	3	4	174	1	0	0	0	0	1	0	0	0	699	449	16	5	834	5	ANO4	12	101433740	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	24647361	101433740	32418155	47	12248											
TMEM132D	121256	genome.wustl.edu	37	chr12	130184367	130184367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacttacctcaacgtgaagCgatcttcagtggaatttctg	9	10	4	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr12:130184367C>T	ENST00000422113.2	-	2	1282	c.956G>A	c.(955-957)cGc>cAc	p.R319H	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	319					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAACGTGAAGCGATCTTCAGT	0.488																																																	0								ENSG00000151952						109	98	102					12																	130184367		2203	4300	6503	TMEM132D	SO:0001583	missense	0			-	HGNC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.956G>A	12.37:g.130184367C>T	ENSP00000408581:p.Arg319His	Somatic	0	37	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP							NULL	p.R319H	ENST00000422113.2	37	c.956	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.725067	0.00694	.	.	ENSG00000151952	ENST00000422113	T	0.12147	2.71	5.47	-4.13	0.03904	.	1.178150	0.05998	N	0.647161	T	0.05410	0.0143	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.44065	-0.9352	9	.	.	.	-3.2786	9.3733	0.38268	0.1128:0.1329:0.0:0.7543	.	319	Q14C87	T132D_HUMAN	H	319	ENSP00000408581:R319H	.	R	-	2	0	TMEM132D	128750320	0.001000	0.12720	0.002000	0.10522	0.040000	0.13550	0.073000	0.14640	-0.923000	0.03785	-0.145000	0.13849	CGC	-	NULL		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	C	NM_133448	-		130184367	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	SNP	0.000	T	T	130184367	C	T	130184367	3	4	174	1	0	0	0	0	1	0	0	0	16054	768	27	1	2375	1	TMEM132D	12	130184367	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	28750627	130184367	3667528	48	12249											
KLHL1	57626	genome.wustl.edu	37	chr13	70371041	70371041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgccattcatcatccCtgcctggatccacagatttg	6	15	3	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr13:70371041C>T	ENST00000377844.4	-	7	2227	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G297R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	490					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTCATCATCCCTGCCTGGATC	0.383																																																	0								ENSG00000150361						192	174	180					13																	70371041		2203	4300	6503	KLHL1	SO:0001583	missense	0			-	HGNC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1468G>A	13.37:g.70371041C>T	ENSP00000367075:p.Gly490Arg	Somatic	0	53	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	129	17.20	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G490R	ENST00000377844.4	37	c.1468	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491401	0.84962	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000005	D	0.84179	0.5415	L	0.53729	1.69	0.46521	D	0.999083	D;D	0.67145	0.996;0.969	D;P	0.73380	0.98;0.806	D	0.84602	0.0673	10	0.59425	D	0.04	.	12.6628	0.56824	0.0:0.9241:0.0:0.0759	.	490;490	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	490;297	ENSP00000367075:G490R;ENSP00000439602:G297R	ENSP00000367075:G490R	G	-	1	0	KLHL1	69269042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.051000	0.71072	2.639000	0.89480	0.655000	0.94253	GGG	-	pfam_Kelch_1,smart_Kelch_1		0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	protein_coding	OTTHUMT00000045231.3	C	NM_020866	-		70371041	-1	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70371041	C	T	70371041	3	4	174	1	0	0	0	0	1	0	0	0	8367	681	24	2	798	2	KLHL1	13	70371041	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09		70371041	44798837	49	12250											
INSM2	84684	genome.wustl.edu	37	chr14	36004278	36004278	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgcaaggagcagtacgcaGaccccttcgcgctggcccag	13	14	0	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr14:36004278G>T	ENST00000307169.3	+	1	1031	c.820G>T	c.(820-822)Gac>Tac	p.D274Y		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	274					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)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCAGTACGCAGACCCCTTCGC	0.682																																																	0								ENSG00000168348						29	29	29					14																	36004278		2202	4294	6496	INSM2	SO:0001583	missense	0			-	HGNC	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.820G>T	14.37:g.36004278G>T	ENSP00000306523:p.Asp274Tyr	Somatic	0	89	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D274Y	ENST00000307169.3	37	c.820	CCDS9657.1	14	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420738	0.83559	.	.	ENSG00000168348	ENST00000307169	T	0.27720	1.65	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);	0.000000	0.34002	N	0.004359	T	0.54695	0.1874	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56177	-0.8022	10	0.51188	T	0.08	-26.6406	16.9569	0.86262	0.0:0.0:1.0:0.0	.	274	Q96T92	INSM2_HUMAN	Y	274	ENSP00000306523:D274Y	ENSP00000306523:D274Y	D	+	1	0	INSM2	35074029	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.382000	0.97209	2.269000	0.75478	0.563000	0.77884	GAC	-	smart_Znf_C2H2-like		0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSM2	protein_coding	OTTHUMT00000276686.1	G		-		36004278	1	no_errors	ENST00000307169	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36004278	G	T	36004278	3	4	174	1	0	0	0	0	1	0	0	0	7774	942	33	3	822	3	INSM2	14	36004278	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		36004278	71345262	50	12251											
YY1	7528	genome.wustl.edu	37	chr14	100705951	100705951	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actcggacgggctgcgcgccGaggacggcttcgaggatcag	17	12	1	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr14:100705951G>T	ENST00000262238.4	+	1	630	c.370G>T	c.(370-372)Gag>Tag	p.E124*	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	124	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				GCTGCGCGCCGAGGACGGCTT	0.706																																																	0								ENSG00000100811						35	38	37					14																	100705951		2196	4297	6493	YY1	SO:0001587	stop_gained	0			-	HGNC	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.370G>T	14.37:g.100705951G>T	ENSP00000262238:p.Glu124*	Somatic	0	49	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q14935	Nonsense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.E124*	ENST00000262238.4	37	c.370	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.985642	0.97983	.	.	ENSG00000100811	ENST00000262238	.	.	.	2.63	0.865	0.19074	.	0.065771	0.64402	U	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	7.2023	0.25887	0.2159:0.0:0.7841:0.0	.	.	.	.	X	124	.	ENSP00000262238:E124X	E	+	1	0	YY1	99775704	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.171000	0.77595	0.161000	0.19458	0.549000	0.68633	GAG	-	pirsf_TF_Yin_yang		0.706	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	protein_coding	OTTHUMT00000318277.1	G	NM_003403	-		100705951	1	no_errors	ENST00000262238	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	100705951	G	T	100705951	4	4	174	1	0	0	0	0	0	1	0	0	17514	1059	37	3	372	3	YY1	14	100705951	Nonsense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	64701673	100705951	6643589	51	12252											
STOML1	9399	genome.wustl.edu	37	chr15	74280989	74280989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggatctcccgcagcGgcctcttgagcagggccttg	12	15	3	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr15:74280989G>A	ENST00000316900.5	-	4	669	c.545C>T	c.(544-546)cCg>cTg	p.P182L	STOML1_ENST00000316911.6_Missense_Mutation_p.P132L|STOML1_ENST00000564777.1_Missense_Mutation_p.P132L|STOML1_ENST00000561656.1_Missense_Mutation_p.P95L|STOML1_ENST00000359750.4_Missense_Mutation_p.P182L|STOML1_ENST00000541638.1_Missense_Mutation_p.P140L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	182						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCCCGCAGCGGCCTCTTGAG	0.612																																																	0								ENSG00000067221						89	80	83					15																	74280989		2198	4297	6495	STOML1	SO:0001583	missense	0			-	HGNC	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.545C>T	15.37:g.74280989G>A	ENSP00000319323:p.Pro182Leu	Somatic	0	66	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP							pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.P182L	ENST00000316900.5	37	c.545	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121692	0.37436	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	4.34	2.29	0.28610	.	0.523497	0.20612	N	0.088956	T	0.81936	0.4928	N	0.11064	0.09	0.32344	N	0.559364	B;P;B;P;B;B	0.46020	0.001;0.871;0.001;0.871;0.001;0.386	B;B;B;B;B;B	0.37047	0.003;0.24;0.001;0.24;0.001;0.087	T	0.80725	-0.1254	10	0.23891	T	0.37	-14.0097	2.3608	0.04307	0.1028:0.1474:0.4546:0.2951	.	140;182;132;182;182;182	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	L	182;132;140;182	ENSP00000319323:P182L;ENSP00000319384:P132L;ENSP00000442478:P140L;ENSP00000352788:P182L	ENSP00000319323:P182L	P	-	2	0	STOML1	72068042	0.978000	0.34361	0.859000	0.33776	0.983000	0.72400	1.776000	0.38594	1.052000	0.40392	-0.137000	0.14449	CCG	-	pfam_Band_7,smart_Band_7,prints_Stomatin		0.612	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	protein_coding	OTTHUMT00000269022.1	G	NM_004809	-		74280989	-1	no_errors	ENST00000316900	ensembl	human	known	74_37	missense	SNP	0.328	A	A	74280989	G	A	74280989	3	1	174	1	0	0	0	0	1	0	0	0	15320	1116	39	1	667	1	STOML1	15	74280989	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		74280989	28250403	52	12253											
DNAJA4	55466	genome.wustl.edu	37	chr15	78565508	78565508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtcacgaagaaattggccCtccagaaaaatgtaatttgt	9	7	1	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr15:78565508C>G	ENST00000394852.3	+	3	575	c.385C>G	c.(385-387)Ctc>Gtc	p.L129V	DNAJA4_ENST00000343789.3_Missense_Mutation_p.L129V|DNAJA4_ENST00000394855.3_Missense_Mutation_p.L158V|DNAJA4_ENST00000446172.2_Missense_Mutation_p.L102V	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	129					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GAAATTGGCCCTCCAGAAAAA	0.353																																																	0								ENSG00000140403						81	85	84					15																	78565508		2196	4293	6489	DNAJA4	SO:0001583	missense	0			-	HGNC	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.385C>G	15.37:g.78565508C>G	ENSP00000378321:p.Leu129Val	Somatic	0	34	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	7	73.08	E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP							pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.L158V	ENST00000394852.3	37	c.472	CCDS45316.1	15	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638330	0.29157	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.47	3.6	0.41247	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.33792	1.035	0.80722	D	1	B;B;B;B	0.28350	0.114;0.132;0.132;0.208	B;B;B;B	0.29862	0.032;0.05;0.05;0.108	T	0.07424	-1.0773	10	0.40728	T	0.16	-5.3136	11.2558	0.49052	0.0:0.8529:0.0:0.1471	.	44;102;129;158	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	V	158;129;129;102	ENSP00000378324:L158V;ENSP00000339581:L129V;ENSP00000378321:L129V;ENSP00000413499:L102V	ENSP00000339581:L129V	L	+	1	0	DNAJA4	76352563	1.000000	0.71417	0.186000	0.23195	0.406000	0.30931	5.889000	0.69766	0.690000	0.31570	-0.145000	0.13849	CTC	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom		0.353	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA4	protein_coding	OTTHUMT00000289801.1	C	NM_018602	-		78565508	1	no_errors	ENST00000394855	ensembl	human	known	74_37	missense	SNP	0.995	G	G	78565508	C	G	78565508	3	3	174	1	0	0	0	0	1	0	0	0	4616	681	24	4	541	4	DNAJA4	15	78565508	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	4284519	78565508	23965884	53	12254											
TNRC6A	27327	genome.wustl.edu	37	chr16	24788423	24788434	+	In_Frame_Del	DEL	GCAGCCACAGCC	GCAGCCACAGCC	-													cagcagcagcagccacagcaGcagccacagccgcagccgca					rs10593507|rs60829899|rs71156436|rs11644562|rs71383714	byFrequency	TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	GCAGCCACAGCC	GCAGCCACAGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr16:24788423_24788434delGCAGCCACAGCC	ENST00000395799.3	+	5	462_473	c.333_344delGCAGCCACAGCC	c.(331-345)cagcagccacagccg>cag	p.QPQP112del	TNRC6A_ENST00000315183.7_In_Frame_Del_p.QPQP112del	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	112	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agccacagcagcagccacagccgcagccgcag	0.59														660	0.131789	0.0908	0.1455	5008	,	,		12550	0.126		0.162	False		,,,				2504	0.1524																0								ENSG00000090905			502,3262		90,322,1470						1.3	0.2		dbSNP_130	23	1410,6010		189,1032,2489	no	coding	TNRC6A	NM_014494.2		279,1354,3959	A1A1,A1R,RR		19.0027,13.3369,17.0959				1912,9272				TNRC6A	SO:0001651	inframe_deletion	0				HGNC	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.333_344delGCAGCCACAGCC	16.37:g.24788423_24788434delGCAGCCACAGCC	ENSP00000379144:p.Gln112_Pro115del	Somatic					0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1				C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	In_Frame_Del	DEL							pfam_Argonaute_hook_dom,superfamily_UBA-like	p.PQPQ115in_frame_del	ENST00000395799.3	37	c.333_344	CCDS10624.2	16																																																																																			-	NULL		0.59	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	protein_coding	OTTHUMT00000214081.1	GCAGCCACAGCC	NM_020847			24788434	1	no_errors	ENST00000395799	ensembl	human	known	74_37	in_frame_del	DEL	0.272:0.260:0.233:0.187:0.163:0.109:0.101:0.113:0.113:0.139:0.129:0.003	-	-	24788434	GCAGCCACAGCC	-	24788423	7	5	174	1	0	1	0	1	0	0	0	0	16347	962	34	0	351	0	TNRC6A	16	24788423	In_Frame_Del	DEL	GCAGCCACAGCC	TCGA-KD-A5QS-01A-11D-A27P-09		24788423	65566330	54	12255											
ZNF423	23090	genome.wustl.edu	37	chr16	49670663	49670663	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacttcttgctgtgtgtggtGatgtggcactgcagctccac	12	10	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr16:49670663G>C	ENST00000561648.1	-	4	2453	c.2400C>G	c.(2398-2400)atC>atG	p.I800M	ZNF423_ENST00000567169.1_Missense_Mutation_p.I683M|ZNF423_ENST00000535559.1_Missense_Mutation_p.I683M|ZNF423_ENST00000262383.2_Missense_Mutation_p.I800M|ZNF423_ENST00000563137.2_Missense_Mutation_p.I740M|ZNF423_ENST00000562520.1_Missense_Mutation_p.I740M|ZNF423_ENST00000562871.1_Missense_Mutation_p.I740M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	800					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTGTGTGGTGATGTGGCACT	0.562																																																	0								ENSG00000102935						192	185	187					16																	49670663		2198	4300	6498	ZNF423	SO:0001583	missense	0			-	HGNC	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2400C>G	16.37:g.49670663G>C	ENSP00000455426:p.Ile800Met	Somatic	0	53	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	19.15	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I800M	ENST00000561648.1	37	c.2400	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961305	0.34565	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27557	1.66;1.66	4.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.099676	0.64402	D	0.000002	T	0.28433	0.0703	N	0.04508	-0.205	0.41392	D	0.987627	D	0.89917	1.0	D	0.91635	0.999	T	0.10177	-1.0641	9	.	.	.	-28.6831	11.0264	0.47746	0.1541:0.0:0.8459:0.0	.	800	Q2M1K9	ZN423_HUMAN	M	800;683	ENSP00000262383:I800M;ENSP00000442321:I683M	.	I	-	3	3	ZNF423	48228164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.958000	0.56737	1.036000	0.39998	0.561000	0.74099	ATC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	protein_coding	OTTHUMT00000423258.1	G	NM_015069	-		49670663	-1	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	SNP	1.000	C	C	49670663	G	C	49670663	3	2	174	1	0	0	0	0	1	0	0	0	17905	1280	45	4	1474	4	ZNF423	16	49670663	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	24882240	49670663	40684090	55	12256											
PHLPP2	23035	genome.wustl.edu	37	chr16	71712775	71712775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttctcataaacctcaGgaatttgactaaagttgttg	8	6	2	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr16:71712775G>A	ENST00000568954.1	-	8	1529	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L	PHLPP2_ENST00000360429.3_Missense_Mutation_p.P384L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P419L|PHLPP2_ENST00000393524.2_Missense_Mutation_p.P384L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P384L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	384					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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATAAACCTCAGGAATTTGACT	0.403																																																	0								ENSG00000040199						87	83	84					16																	71712775		2198	4300	6498	PHLPP2	SO:0001583	missense	0			-	HGNC	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1151C>T	16.37:g.71712775G>A	ENSP00000457991:p.Pro384Leu	Somatic	0	30	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	3	82.35	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP							pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom	p.P384L	ENST00000568954.1	37	c.1151	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.218450	0.95104	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.30714	1.52;1.52;1.52	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.76217	-0.3040	10	0.87932	D	0	-15.5586	19.0677	0.93119	0.0:0.0:1.0:0.0	.	384;384	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	L	191;384;384;384;384	ENSP00000353610:P384L;ENSP00000348611:P384L;ENSP00000377159:P384L	ENSP00000299971:P191L	P	-	2	0	PHLPP2	70270276	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.869000	0.99810	2.747000	0.94245	0.650000	0.86243	CCT	-	smart_Leu-rich_rpt_typical-subtyp		0.403	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	protein_coding	OTTHUMT00000434139.1	G	NM_015020	-		71712775	-1	no_errors	ENST00000356272	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71712775	G	A	71712775	3	1	174	1	0	0	0	0	1	0	0	0	11857	1000	35	2	2868	2	PHLPP2	16	71712775	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	22042112	71712775	18641978	56	12257											
IL17C	27189	genome.wustl.edu	37	chr16	88706424	88706424	+	Frame_Shift_Del	DEL	A	A	-													ctggggcctttgccttccacAccgagttcatccacgtcccc							TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr16:88706424delA	ENST00000244241.4	+	3	587	c.538delA	c.(538-540)accfs	p.T180fs		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	180					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGCCTTCCACACCGAGTTCAT	0.716																																																	0								ENSG00000124391						48	54	52					16																	88706424		1979	4140	6119	IL17C	SO:0001589	frameshift_variant	0				HGNC	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.538delA	16.37:g.88706424delA	ENSP00000244241:p.Thr180fs	Somatic	0	79	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q3MIG8|Q9HC75	Frame_Shift_Del	DEL							pfam_IL-17_fam,prints_IL-17_chr	p.T180fs	ENST00000244241.4	37	c.538	CCDS42217.1	16																																																																																			-	pfam_IL-17_fam,prints_IL-17_chr		0.716	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17C	protein_coding	OTTHUMT00000422575.1	A	NM_013278			88706424	1	no_errors	ENST00000244241	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	88706424	A	-	88706424	7	5	174	1	0	1	0	1	0	0	0	0	7638	159	6	0	548	0	IL17C	16	88706424	Frame_Shift_Del	DEL	A	TCGA-KD-A5QS-01A-11D-A27P-09	16993649	88706424	1648329	57	12258											
HS3ST3B1	9953	genome.wustl.edu	37	chr17	14248744	14248744	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagacttcctgggcctcaaGaggatcatcacggacaagca	10	12	3	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:14248744G>T	ENST00000360954.2	+	2	1390	c.954G>T	c.(952-954)aaG>aaT	p.K318N		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	318					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		TGGGCCTCAAGAGGATCATCA	0.642																																																	0								ENSG00000125430						5	5	5					17																	14248744		1836	3820	5656	HS3ST3B1	SO:0001583	missense	0			-	HGNC	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"Sulfotransferases, membrane-bound"	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.954G>T	17.37:g.14248744G>T	ENSP00000354213:p.Lys318Asn	Somatic	0	23	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B3KN58|D3DTS6	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K318N	ENST00000360954.2	37	c.954	CCDS11167.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406046	0.62288	.	.	ENSG00000125430	ENST00000360954	T	0.42900	0.96	4.85	3.88	0.44766	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.60792	0.2296	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	D	0.71656	0.974	T	0.65286	-0.6205	10	0.66056	D	0.02	.	13.8485	0.63481	0.0754:0.0:0.9246:0.0	.	318	Q9Y662	HS3SB_HUMAN	N	318	ENSP00000354213:K318N	ENSP00000354213:K318N	K	+	3	2	HS3ST3B1	14189469	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	5.561000	0.67339	1.363000	0.46019	-0.262000	0.10625	AAG	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.642	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3B1	protein_coding	OTTHUMT00000129998.1	G	NM_006041	-		14248744	1	no_errors	ENST00000360954	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14248744	G	T	14248744	3	4	174	1	0	0	0	0	1	0	0	0	7368	933	33	3	960	3	HS3ST3B1	17	14248744	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		14248744	66946466	58	12259											
KSR1	8844	genome.wustl.edu	37	chr17	25919582	25919582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagaatctgtcccctcggAcatcaacaacccggtggaca	9	14	2	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:25919582A>T	ENST00000319524.6	+	9	1229	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Missense_Mutation_p.D273V|KSR1_ENST00000509603.2_Missense_Mutation_p.D410V|KSR1_ENST00000398988.3_Missense_Mutation_p.D273V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	410					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTCCCCTCGGACATCAACAAC	0.537																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0								ENSG00000141068						87	83	85					17																	25919582		1901	4118	6019	KSR1	SO:0001583	missense	0			-	HGNC	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1229A>T	17.37:g.25919582A>T	ENSP00000323178:p.Asp410Val	Somatic	0	73	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	57	26.92	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D410V	ENST00000319524.6	37	c.1229		17	.	.	.	.	.	.	.	.	.	.	A	25.2	4.616476	0.87359	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	D;T;T	0.81659	-1.52;-1.47;-1.48	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.924;0.986	D	0.88106	0.2822	10	0.33141	T	0.24	.	13.6662	0.62396	1.0:0.0:0.0:0.0	.	408;410	Q8IVT5;F5H0K8	KSR1_HUMAN;.	V	410;410;273;273	ENSP00000323178:D410V;ENSP00000438795:D410V;ENSP00000268763:D273V	ENSP00000268763:D273V	D	+	2	0	KSR1	22943709	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	8.832000	0.92079	1.832000	0.53329	0.482000	0.46254	GAC	-	NULL		0.537	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	protein_coding		A	NM_014238	-		25919582	1	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25919582	A	T	25919582	3	4	174	1	0	0	0	0	1	0	0	0	8583	275	10	5	840	5	KSR1	17	25919582	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	11670838	25919582	55275628	59	12260											
ARHGAP27	201176	genome.wustl.edu	37	chr17	43474374	43474374	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctctcgctctcctctGggggcagctctgcggactgg	14	14	4	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:43474374G>C	ENST00000428638.1	-	11	1858	c.1859C>G	c.(1858-1860)cCa>cGa	p.P620R	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.P252R|ARHGAP27_ENST00000582826.1_5'Flank|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.P279R|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.P593R|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.P598R|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.P398R|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.P279R			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	620					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCTCTCCTCTGGGGGCAGCTC	0.647																																																	0								ENSG00000159314						53	50	51					17																	43474374		2203	4300	6503	ARHGAP27	SO:0001583	missense	0			-	HGNC	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1859C>G	17.37:g.43474374G>C	ENSP00000403323:p.Pro620Arg	Somatic	0	113	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	63	26.74	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.P620R	ENST00000428638.1	37	c.1859		17	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798465	0.16397	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.66	-3.64	0.04515	.	0.853808	0.10207	N	0.702626	T	0.62925	0.2468	L	0.40543	1.245	0.09310	N	1	B;B	0.34181	0.078;0.44	B;B	0.31191	0.051;0.125	T	0.51268	-0.8727	10	0.16420	T	0.52	.	3.9351	0.09302	0.3912:0.0:0.3434:0.2654	.	593;620	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	R	398;279;252;598;620;593;279	ENSP00000432762:P398R;ENSP00000366121:P279R;ENSP00000431591:P252R;ENSP00000433942:P598R;ENSP00000403323:P620R;ENSP00000409330:P593R;ENSP00000408235:P279R	ENSP00000366121:P279R	P	-	2	0	ARHGAP27	40830157	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.034000	0.12225	-0.950000	0.03659	0.462000	0.41574	CCA	-	NULL		0.647	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	protein_coding		G	NM_199282	-		43474374	-1	no_errors	ENST00000428638	ensembl	human	known	74_37	missense	SNP	0.000	C	C	43474374	G	C	43474374	3	2	174	1	0	0	0	0	1	0	0	0	876	1348	47	4	838	4	ARHGAP27	17	43474374	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	17554792	43474374	37720836	60	12261											
ACSF2	80221	genome.wustl.edu	37	chr17	48548432	48548432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcccgtgacattcgcgcActtccctgaggacactgtgg	11	14	0	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:48548432A>C	ENST00000300441.4	+	11	1363	c.1259A>C	c.(1258-1260)cAc>cCc	p.H420P	CHAD_ENST00000258969.4_5'Flank|CHAD_ENST00000508540.1_5'Flank|ACSF2_ENST00000502667.1_Missense_Mutation_p.H407P|ACSF2_ENST00000504392.1_Missense_Mutation_p.H377P|ACSF2_ENST00000427954.2_Missense_Mutation_p.H445P|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Missense_Mutation_p.H260P	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	420					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACATTCGCGCACTTCCCTGAG	0.562																																																	0								ENSG00000167107						112	97	102					17																	48548432		2203	4300	6503	ACSF2	SO:0001583	missense	0			-	HGNC	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1259A>C	17.37:g.48548432A>C	ENSP00000300441:p.His420Pro	Somatic	0	49	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.H420P	ENST00000300441.4	37	c.1259	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	A	7.082	0.570340	0.13560	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.67	1.27	0.21489	AMP-dependent synthetase/ligase (1);	0.624103	0.15823	N	0.242916	T	0.26340	0.0643	N	0.12853	0.265	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	0.19257	-1.0311	10	0.87932	D	0	-11.195	6.3858	0.21559	0.526:0.0:0.474:0.0	.	407;445;377;420	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	P	420;260;377;445;407	ENSP00000300441:H420P;ENSP00000437987:H260P;ENSP00000425964:H377P;ENSP00000401831:H445P;ENSP00000421884:H407P	ENSP00000300441:H420P	H	+	2	0	ACSF2	45903431	0.113000	0.22115	0.927000	0.36925	0.062000	0.15995	0.424000	0.21330	0.181000	0.19994	-0.609000	0.04063	CAC	-	pfam_AMP-dep_Synth/Lig		0.562	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	protein_coding	OTTHUMT00000367423.3	A	NM_025149	-		48548432	1	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	SNP	0.077	C	C	48548432	A	C	48548432	3	2	174	1	0	0	0	0	1	0	0	0	175	159	6	5	1301	5	ACSF2	17	48548432	Missense_Mutation	SNP	A	TCGA-KD-A5QS-01A-11D-A27P-09	5074058	48548432	32646778	61	12262											
C17orf47	284083	genome.wustl.edu	37	chr17	56620182	56620182	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaaccggacaataaaagatCtagggaaggagagcacttag	11	6	1	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:56620182C>G	ENST00000321691.3	-	1	1547	c.1366G>C	c.(1366-1368)Gat>Cat	p.D456H	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	456										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATAAAAGATCTAGGGAAGGA	0.478																																																	0								ENSG00000181013						144	158	153					17																	56620182		2203	4300	6503	C17orf47	SO:0001583	missense	0			-	HGNC		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1366G>C	17.37:g.56620182C>G	ENSP00000354874:p.Asp456His	Somatic	0	52	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	Q8N821	Missense_Mutation	SNP							NULL	p.D456H	ENST00000321691.3	37	c.1366	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	9.385	1.074003	0.20147	.	.	ENSG00000181013	ENST00000321691	T	0.59906	0.23	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	T	0.66886	0.2835	L	0.34521	1.04	0.30265	N	0.792821	D	0.89917	1.0	D	0.97110	1.0	T	0.67011	-0.5778	10	0.62326	D	0.03	-16.7723	15.1489	0.72681	0.0:1.0:0.0:0.0	.	456	Q8NEP4	CQ047_HUMAN	H	456	ENSP00000354874:D456H	ENSP00000354874:D456H	D	-	1	0	C17orf47	53975181	0.746000	0.28272	0.179000	0.23059	0.028000	0.11728	2.329000	0.43876	2.637000	0.89404	0.561000	0.74099	GAT	-	NULL		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	protein_coding	OTTHUMT00000445443.1	C	NM_001038704	-		56620182	-1	no_errors	ENST00000321691	ensembl	human	known	74_37	missense	SNP	0.528	G	G	56620182	C	G	56620182	3	3	174	1	0	0	0	0	1	0	0	0	1860	913	32	4	354	4	C17orf47	17	56620182	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	8071750	56620182	24575028	62	12263											
C17orf47	284083	genome.wustl.edu	37	chr17	56620335	56620335	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctaggggtcagttccagttCtgcatggatggagggctttt	14	8	2	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:56620335C>T	ENST00000321691.3	-	1	1394	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	405										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTTCCAGTTCTGCATGGATG	0.517																																																	0								ENSG00000181013						147	138	141					17																	56620335		2203	4300	6503	C17orf47	SO:0001583	missense	0			-	HGNC		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1213G>A	17.37:g.56620335C>T	ENSP00000354874:p.Glu405Lys	Somatic	0	67	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	84	17.65	Q8N821	Missense_Mutation	SNP							NULL	p.E405K	ENST00000321691.3	37	c.1213	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134921	0.56828	.	.	ENSG00000181013	ENST00000321691	T	0.41758	0.99	5.27	4.31	0.51392	.	0.088281	0.49305	D	0.000159	T	0.32194	0.0821	L	0.32530	0.975	0.09310	N	0.999998	P	0.40731	0.728	B	0.39904	0.313	T	0.21759	-1.0236	10	0.59425	D	0.04	-6.9559	9.6337	0.39795	0.0:0.9065:0.0:0.0935	.	405	Q8NEP4	CQ047_HUMAN	K	405	ENSP00000354874:E405K	ENSP00000354874:E405K	E	-	1	0	C17orf47	53975334	0.797000	0.28877	0.241000	0.24154	0.408000	0.30992	2.394000	0.44450	1.460000	0.47911	0.561000	0.74099	GAA	-	NULL		0.517	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	protein_coding	OTTHUMT00000445443.1	C	NM_001038704	-		56620335	-1	no_errors	ENST00000321691	ensembl	human	known	74_37	missense	SNP	0.353	T	T	56620335	C	T	56620335	3	4	174	1	0	0	0	0	1	0	0	0	1860	922	32	2	507	2	C17orf47	17	56620335	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	153	56620335	24574875	63	12264											
CDK3	1018	genome.wustl.edu	37	chr17	73998102	73998102	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgactgccatctccctgtcaGactgctggacgtggtgcaca	11	13	2	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:73998102G>A	ENST00000425876.2	+	3	282		c.e3-1		CDK3_ENST00000448471.1_Splice_Site|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						CTCCCTGTCAGACTGCTGGAC	0.562																																																	0								ENSG00000250506						121	100	107					17																	73998102		2203	4300	6503	CDK3	SO:0001630	splice_region_variant	0			-	HGNC	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.195-1G>A	17.37:g.73998102G>A		Somatic	0	89	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44		Splice_Site	SNP							-	e3-1	ENST00000425876.2	37	c.195-1	CCDS11736.1	17	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112093	0.20795	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	.	.	.	5.02	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9687	0.64225	0.0:0.1524:0.8476:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK3	71509697	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	6.630000	0.74272	2.326000	0.78906	0.655000	0.94253	.	-	-		0.562	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	protein_coding	OTTHUMT00000337389.2	G	NM_001258	-	Intron	73998102	1	no_errors	ENST00000425876	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	73998102	G	A	73998102	5	1	174	1	0	0	0	0	0	0	1	0	3142	956	33	2	204	2	CDK3	17	73998102	Splice_Site	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	17377767	73998102	7197108	64	12265											
MGAT5B	146664	genome.wustl.edu	37	chr17	74944891	74944891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgacttccgcaagggcCaggtggccttgtgccagggc	16	14	0	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr17:74944891C>T	ENST00000569840.2	+	18	2924	c.2350C>T	c.(2350-2352)Cag>Tag	p.Q784*	MGAT5B_ENST00000428789.2_Nonsense_Mutation_p.Q793*|RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000301618.4_Nonsense_Mutation_p.Q782*	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	784					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						CCGCAAGGGCCAGGTGGCCTT	0.672																																																	0								ENSG00000167889						21	24	23					17																	74944891		2203	4297	6500	MGAT5B	SO:0001587	stop_gained	0			-	HGNC	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.2350C>T	17.37:g.74944891C>T	ENSP00000456037:p.Gln784*	Somatic	0	132	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	68	50.72	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Nonsense_Mutation	SNP							superfamily_PyrdxlP-dep_Trfase	p.Q793*	ENST00000569840.2	37	c.2377	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.398900	0.96030	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	.	.	.	5.25	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.2616	13.1143	0.59292	0.0:0.9222:0.0:0.0778	.	.	.	.	X	782;793	.	ENSP00000301618:Q782X	Q	+	1	0	MGAT5B	72456486	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.631000	0.83237	1.206000	0.43276	0.462000	0.41574	CAG	-	NULL		0.672	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	protein_coding	OTTHUMT00000460624.2	C	NM_144677	-		74944891	1	no_errors	ENST00000428789	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	74944891	C	T	74944891	4	4	174	1	0	0	0	0	0	1	0	0	9551	595	21	2	2511	2	MGAT5B	17	74944891	Nonsense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	946789	74944891	6250319	65	12266											
GRIN3B	116444	genome.wustl.edu	37	chr19	1005248	1005248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtggctgggcgtctttgCggccctgcacctcaccgcgc	13	17	2	0			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr19:1005248C>T	ENST00000234389.3	+	3	1767	c.1748C>T	c.(1747-1749)gCg>gTg	p.A583V	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	583					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.A583V(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCGTCTTTGCGGCCCTGCAC	0.672																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000116032						61	57	58					19																	1005248		2203	4300	6503	GRIN3B	SO:0001583	missense	0			-	HGNC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1748C>T	19.37:g.1005248C>T	ENSP00000234389:p.Ala583Val	Somatic	0	139	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	10	87.06	Q5EAK7|Q7RTW9	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A583V	ENST00000234389.3	37	c.1748	CCDS32861.1	19	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881016	0.02530	.	.	ENSG00000116032	ENST00000234389	T	0.21932	1.98	4.53	3.41	0.39046	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.059979	0.64402	D	0.000004	T	0.04497	0.0123	N	0.01535	-0.81	0.33456	D	0.584297	B	0.27997	0.197	B	0.20184	0.028	T	0.31752	-0.9932	10	0.02654	T	1	.	3.5939	0.07998	0.0:0.6204:0.0:0.3796	.	583	O60391	NMD3B_HUMAN	V	583	ENSP00000234389:A583V	ENSP00000234389:A583V	A	+	2	0	GRIN3B	956248	1.000000	0.71417	0.576000	0.28549	0.016000	0.09150	4.065000	0.57513	2.100000	0.63781	0.485000	0.47835	GCG	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt		0.672	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	protein_coding	OTTHUMT00000103923.2	C		-		1005248	1	no_errors	ENST00000234389	ensembl	human	known	74_37	missense	SNP	0.994	T	T	1005248	C	T	1005248	3	4	174	1	0	0	0	0	1	0	0	0	6786	768	27	1	1758	1	GRIN3B	19	1005248	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09		1005248	58123735	66	12267											
RANBP3	8498	genome.wustl.edu	37	chr19	5918597	5918597	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccttgtcgatctgcatctgGgcccacagcttggtgttgag	13	11	2	1	rs377714973		TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr19:5918597G>C	ENST00000340578.6	-	15	1440	c.1383C>G	c.(1381-1383)gcC>gcG	p.A461A	RANBP3_ENST00000439268.2_Silent_p.A456A|RANBP3_ENST00000541471.1_Silent_p.A333A|RANBP3_ENST00000034275.8_Silent_p.A393A|RANBP3_ENST00000591092.1_Silent_p.A388A	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	461	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCTGCATCTGGGCCCACAGCT	0.627																																																	0								ENSG00000031823	G	,,	0,4290		0,0,2145	136	154	148		1368,1179,1383	-10	0.4	19		148	1,8493		0,1,4246	no	coding-synonymous,coding-synonymous,coding-synonymous	RANBP3	NM_003624.2,NM_007320.2,NM_007322.2	,,	0,1,6391	CC,CG,GG		0.0118,0.0,0.0078	,,	456/563,393/500,461/568	5918597	1,12783	2145	4247	6392	RANBP3	SO:0001819	synonymous_variant	0			-	HGNC	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		ENST00000340578.6:c.1383C>G	19.37:g.5918597G>C		Somatic	0	61	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP							pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.A461	ENST00000340578.6	37	c.1383	CCDS42478.1	19																																																																																			-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.627	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	protein_coding	OTTHUMT00000452304.1	G	NM_007322	-		5918597	-1	no_errors	ENST00000340578	ensembl	human	known	74_37	silent	SNP	0.010	C	C	5918597	G	C	5918597	2	2	174	1	0	0	0	0	0	0	0	1	13037	1219	43	4		4	RANBP3	19	5918597	Silent	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	4913349	5918597	53210386	67	12268											
SPTBN4	57731	genome.wustl.edu	37	chr19	41019260	41019260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcgctgcaggtgcGcgtggtggaagcagagcagt	21	7	0	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr19:41019260G>A	ENST00000352632.3	+	14	2650	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R855H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R855H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R855H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R855H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	855					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCAGGTGCGCGTGGTGGAA	0.711																																																	0								ENSG00000160460						18	22	21					19																	41019260		2201	4293	6494	SPTBN4	SO:0001583	missense	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2564G>A	19.37:g.41019260G>A	ENSP00000263373:p.Arg855His	Somatic	0	45	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	33.33	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R855H	ENST00000352632.3	37	c.2564	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701983	0.68501	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.56275	0.47;0.47;0.47	3.39	3.39	0.38822	.	0.000000	0.64402	D	0.000005	T	0.65657	0.2712	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.98;0.993	T	0.66575	-0.5889	10	0.51188	T	0.08	.	10.3098	0.43702	0.0:0.2024:0.7976:0.0	.	855;855	Q9H254;Q71S06	SPTN4_HUMAN;.	H	855	ENSP00000263373:R855H;ENSP00000340345:R855H;ENSP00000340741:R855H	ENSP00000340345:R855H	R	+	2	0	SPTBN4	45711100	0.995000	0.38212	1.000000	0.80357	0.611000	0.37282	7.357000	0.79456	1.918000	0.55548	0.313000	0.20887	CGC	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.711	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41019260	1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41019260	G	A	41019260	3	1	174	1	0	0	0	0	1	0	0	0	15128	1087	38	1	2614	1	SPTBN4	19	41019260	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	35100663	41019260	18109723	68	12269											
C20orf54	113278	genome.wustl.edu	37	chr20	746010	746020	+	Frame_Shift_Del	DEL	AGTAGGTGGGC	AGTAGGTGGGC	-													cacaaagaaggtggtgaggtAgtaggtgggcagccggctca					rs527853872		TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	AGTAGGTGGGC	AGTAGGTGGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr20:746010_746020delAGTAGGTGGGC	ENST00000217254.7	-	2	640_650	c.399_409delGCCCACCTACT	c.(397-411)ctgcccacctactacfs	p.PTYY134fs	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Frame_Shift_Del_p.PTYY134fs	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	134					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GTGGTGAGGTAGTAGGTGGGCAGCCGGCTCA	0.616																																																	0								ENSG00000101276																																			SLC52A3	SO:0001589	frameshift_variant	0				HGNC	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.399_409delGCCCACCTACT	20.37:g.746010_746020delAGTAGGTGGGC	ENSP00000217254:p.Pro134fs	Somatic					0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Frame_Shift_Del	DEL							pfam_Endogenous_retrovirus_rcpt	p.T135fs	ENST00000217254.7	37	c.409_399	CCDS13007.1	20																																																																																			-	NULL		0.616	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	protein_coding	OTTHUMT00000077482.2	AGTAGGTGGGC	NM_033409			746020	-1	no_errors	ENST00000217254	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.009:0.002:0.001:0.001:0.374:0.000:0.001:0.971:1.000:1.000	-	-	746020	AGTAGGTGGGC	-	746010	7	5	174	1	0	1	0	1	0	0	0	0	2116	420	15	0	1016	0	C20orf54	20	746010	Frame_Shift_Del	DEL	AGTAGGTGGGC	TCGA-KD-A5QS-01A-11D-A27P-09		746010	62279510	69	12270											
PROKR2	128674	genome.wustl.edu	37	chr20	5294713	5294713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagatgatggccacCaggaagtcggagatggccag	17	9	0	3			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr20:5294713C>T	ENST00000217270.3	-	1	302	c.303G>A	c.(301-303)ctG>ctA	p.L101L	PROKR2_ENST00000546004.1_Silent_p.L101L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	101					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGATGGCCACCAGGAAGTCGG	0.567										HNSCC(71;0.22)																																							0								ENSG00000101292						164	126	139					20																	5294713		2203	4300	6503	PROKR2	SO:0001819	synonymous_variant	0			-	HGNC	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.303G>A	20.37:g.5294713C>T		Somatic	0	104	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	85	25.44	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L101	ENST00000217270.3	37	c.303	CCDS13089.1	20																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	protein_coding	OTTHUMT00000077854.1	C	NM_144773	-		5294713	-1	no_errors	ENST00000217270	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5294713	C	T	5294713	2	4	174	1	0	0	0	0	0	0	0	1	12558	581	21	2		2	PROKR2	20	5294713	Silent	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	4548703	5294713	57730807	70	12271											
DNMT3B	1789	genome.wustl.edu	37	chr20	31376688	31376688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttggaataggggaccTcgtgtggggaaagatcaagg	18	4	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr20:31376688T>G	ENST00000328111.2	+	7	1004	c.683T>G	c.(682-684)cTc>cGc	p.L228R	DNMT3B_ENST00000375623.4_Missense_Mutation_p.L186R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.L228R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.L240R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.L186R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.L228R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.L152R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.L228R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	228	Interaction with DNMT1 and DNMT3A.|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 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						ATAGGGGACCTCGTGTGGGGA	0.577																																																	0								ENSG00000088305						87	87	87					20																	31376688		2203	4300	6503	DNMT3B	SO:0001583	missense	0			-	HGNC		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.683T>G	20.37:g.31376688T>G	ENSP00000328547:p.Leu228Arg	Somatic	0	148	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	178	17.59	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.L228R	ENST00000328111.2	37	c.683	CCDS13205.1	20	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768165	0.90020	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.61	5.61	0.85477	PWWP (3);	0.068872	0.64402	D	0.000016	D	0.89884	0.6844	M	0.90425	3.115	0.53688	D	0.999976	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999;0.996	D;D;D;D;D;D	0.77557	0.978;0.99;0.962;0.962;0.962;0.978	D	0.91929	0.5553	10	0.87932	D	0	-22.8925	14.9828	0.71324	0.0:0.0:0.0:1.0	.	152;186;240;228;228;228	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	R	228;314;228;228;186;152;228;186;240	ENSP00000328547:L228R;ENSP00000313397:L228R;ENSP00000337764:L228R;ENSP00000403169:L186R;ENSP00000412305:L152R;ENSP00000345105:L228R;ENSP00000364774:L186R;ENSP00000201963:L240R	ENSP00000201963:L240R	L	+	2	0	DNMT3B	30840349	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	8.005000	0.88553	2.136000	0.66102	0.379000	0.24179	CTC	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.577	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	protein_coding	OTTHUMT00000078643.2	T	NM_006892	-		31376688	1	no_errors	ENST00000328111	ensembl	human	known	74_37	missense	SNP	0.999	G	G	31376688	T	G	31376688	3	3	174	1	0	0	0	0	1	0	0	0	4679	1551	54	5	745	5	DNMT3B	20	31376688	Missense_Mutation	SNP	T	TCGA-KD-A5QS-01A-11D-A27P-09	26081975	31376688	31648832	71	12272											
PCMTD2	55251	genome.wustl.edu	37	chr20	62896684	62896684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggattgttctcagtatgatCgtgtatactgtggggctggc	14	7	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr20:62896684C>A	ENST00000308824.6	+	4	611	c.484C>A	c.(484-486)Cgt>Agt	p.R162S	PCMTD2_ENST00000299468.7_Missense_Mutation_p.R162S|PCMTD2_ENST00000369758.4_Missense_Mutation_p.R162S|PCMTD2_ENST00000609372.1_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCAGTATGATCGTGTATACTG	0.458																																																	0								ENSG00000203880						153	143	146					20																	62896684		2203	4300	6503	PCMTD2	SO:0001583	missense	0			-	HGNC	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.484C>A	20.37:g.62896684C>A	ENSP00000307854:p.Arg162Ser	Somatic	0	170	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	93	42.59	E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP							pfam_PCMT	p.R162S	ENST00000308824.6	37	c.484	CCDS13559.1	20	.	.	.	.	.	.	.	.	.	.	.	13.81	2.349621	0.41599	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.43688	0.94;0.94;0.94	5.59	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74057	-0.3787	10	0.54805	T	0.06	-26.1328	14.4418	0.67323	0.0:0.9291:0.0:0.0709	.	162;162	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	S	162	ENSP00000358773:R162S;ENSP00000299468:R162S;ENSP00000307854:R162S	ENSP00000299468:R162S	R	+	1	0	PCMTD2	62367128	1.000000	0.71417	0.137000	0.22149	0.029000	0.11900	2.683000	0.46943	1.366000	0.46076	-0.142000	0.14014	CGT	-	pfam_PCMT		0.458	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	protein_coding	OTTHUMT00000080301.1	C	NM_018257	-		62896684	1	no_errors	ENST00000308824	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62896684	C	A	62896684	3	1	174	1	0	0	0	0	1	0	0	0	11589	884	31	3	494	3	PCMTD2	20	62896684	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	31519996	62896684	128836	72	12273											
ADORA2A	135	genome.wustl.edu	37	chr22	24836570	24836570	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtacaatggcttggtgaccGgcacgagggctaagggcatc	16	9	0	1	rs200688325		TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chr22:24836570G>C	ENST00000337539.7	+	3	811	c.352G>C	c.(352-354)Ggc>Cgc	p.G118R	ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	118					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CTTGGTGACCGGCACGAGGGC	0.572																																																	0								ENSG00000128271						116	108	111					22																	24836570		2203	4300	6503	ADORA2A	SO:0001583	missense	0			-	HGNC	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.352G>C	22.37:g.24836570G>C	ENSP00000336630:p.Gly118Arg	Somatic	0	86	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	66	29.03	B2R7E0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.G118R	ENST00000337539.7	37	c.352	CCDS13826.1	22	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349218	0.24426	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.70869	-0.52;-0.52	4.97	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.221015	0.47093	D	0.000243	T	0.65873	0.2733	L	0.28458	0.855	0.33102	D	0.539326	D	0.69078	0.997	D	0.72075	0.976	T	0.66031	-0.6024	10	0.09338	T	0.73	-14.0874	4.7794	0.13195	0.1562:0.0:0.5412:0.3026	.	118	P29274	AA2AR_HUMAN	R	118	ENSP00000414802:G118R;ENSP00000336630:G118R	ENSP00000336630:G118R	G	+	1	0	ADORA2A	23166570	0.998000	0.40836	0.015000	0.15790	0.937000	0.57800	2.716000	0.47219	0.538000	0.28769	0.563000	0.77884	GGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.572	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	protein_coding	OTTHUMT00000319971.2	G	NM_000675	-		24836570	1	no_errors	ENST00000337539	ensembl	human	known	74_37	missense	SNP	0.298	C	C	24836570	G	C	24836570	3	2	174	1	0	0	0	0	1	0	0	0	327	1116	39	4	358	4	ADORA2A	22	24836570	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		24836570	26467996	73	12274											
DMD	1756	genome.wustl.edu	37	chrX	32663086	32663086	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacgttttagtttacctcatGagtatgaaactggtctttca	7	7	3	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chrX:32663086G>C	ENST00000357033.4	-	10	1350	c.1144C>G	c.(1144-1146)Cat>Gat	p.H382D	DMD_ENST00000378677.2_Missense_Mutation_p.H378D|DMD_ENST00000288447.4_Missense_Mutation_p.H374D	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	382					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)				TTTACCTCATGAGTATGAAAC	0.353																																																	0								ENSG00000198947						197	166	176					X																	32663086		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.1144C>G	X.37:g.32663086G>C	ENSP00000354923:p.His382Asp	Somatic	0	45	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	41	44.59	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.H382D	ENST00000357033.4	37	c.1144	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696516	0.68386	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.61040	0.14;0.14;0.14	5.52	5.52	0.82312	.	0.000000	0.38272	U	0.001749	T	0.79902	0.4526	M	0.86178	2.8	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.996;0.995;0.998	T	0.83111	-0.0123	10	0.87932	D	0	.	18.7432	0.91782	0.0:0.0:1.0:0.0	.	378;374;374;382;378	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	D	374;378;382;382;259;374	ENSP00000367948:H378D;ENSP00000354923:H382D;ENSP00000288447:H374D	ENSP00000288447:H374D	H	-	1	0	DMD	32573007	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	9.674000	0.98633	2.458000	0.83093	0.600000	0.82982	CAT	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006	-		32663086	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32663086	G	C	32663086	3	2	174	1	0	0	0	0	1	0	0	0	4582	1290	45	4	10436	4	DMD	23	32663086	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09		32663086	122607474	74	12275											
FAM47C	442444	genome.wustl.edu	37	chrX	37028953	37028953	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaagaccggagcgtcccatCtaaaagaactgtttcaggaa	9	11	2	2			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chrX:37028953C>A	ENST00000358047.3	+	1	2522	c.2470C>A	c.(2470-2472)Cta>Ata	p.L824I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	824										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCGTCCCATCTAAAAGAACT	0.532																																																	0								ENSG00000198173						74	71	72					X																	37028953		2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2470C>A	X.37:g.37028953C>A	ENSP00000367913:p.Leu824Ile	Somatic	0	102	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	79	41.48	Q6ZU46	Missense_Mutation	SNP							NULL	p.L824I	ENST00000358047.3	37	c.2470	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	C	9.276	1.047002	0.19748	.	.	ENSG00000198173	ENST00000358047	T	0.20881	2.04	1.01	1.01	0.19927	.	.	.	.	.	T	0.23611	0.0571	L	0.59912	1.85	0.09310	N	1	P	0.36110	0.537	B	0.44224	0.444	T	0.22347	-1.0219	9	0.25751	T	0.34	.	5.6514	0.17618	0.0:1.0:0.0:0.0	.	824	Q5HY64	FA47C_HUMAN	I	824	ENSP00000367913:L824I	ENSP00000367913:L824I	L	+	1	2	FAM47C	36938874	.	.	0.007000	0.13788	0.007000	0.05969	.	.	0.273000	0.22049	0.277000	0.19347	CTA	-	NULL		0.532	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	C	NM_001013736	-		37028953	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.018	A	A	37028953	C	A	37028953	3	1	174	1	0	0	0	0	1	0	0	0	5573	912	32	3	2472	3	FAM47C	23	37028953	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	4365867	37028953	118241607	75	12276											
GNL3L	54552	genome.wustl.edu	37	chrX	54578772	54578772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagccactcacactctgcCcacccatctcagtgctgaga	6	18	3	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chrX:54578772C>A	ENST00000336470.4	+	13	1368	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	GNL3L_ENST00000360845.2_Missense_Mutation_p.P410H	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	410					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CACACTCTGCCCACCCATCTC	0.507																																																	0								ENSG00000130119						197	152	167					X																	54578772		2203	4300	6503	GNL3L	SO:0001583	missense	0			-	HGNC	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1229C>A	X.37:g.54578772C>A	ENSP00000338573:p.Pro410His	Somatic	0	58	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	86	20.37		Missense_Mutation	SNP							pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.P410H	ENST00000336470.4	37	c.1229	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249445	0.39797	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.19250	2.16;2.16	3.58	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	L	0.54965	1.715	0.58432	D	0.999999	P	0.37985	0.613	B	0.33620	0.167	T	0.06570	-1.0819	10	0.52906	T	0.07	-15.5782	12.1483	0.54036	0.0:1.0:0.0:0.0	.	410	Q9NVN8	GNL3L_HUMAN	H	410	ENSP00000338573:P410H;ENSP00000354091:P410H	ENSP00000338573:P410H	P	+	2	0	GNL3L	54595497	1.000000	0.71417	0.871000	0.34182	0.657000	0.38888	6.847000	0.75404	1.730000	0.51580	0.544000	0.68410	CCC	-	NULL		0.507	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	protein_coding	OTTHUMT00000056805.1	C	NM_019067	-		54578772	1	no_errors	ENST00000336470	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54578772	C	A	54578772	3	1	174	1	0	0	0	0	1	0	0	0	6540	623	22	3	1275	3	GNL3L	23	54578772	Missense_Mutation	SNP	C	TCGA-KD-A5QS-01A-11D-A27P-09	17549819	54578772	100691788	76	12277											
MCF2	4168	genome.wustl.edu	37	chrX	138701798	138701798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattttttgttttacttgaGctatagtccctgttacatca	5	7	1	1			TCGA-KD-A5QS-01A-11D-A27P-09	TCGA-KD-A5QS-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e341a72a-16fb-4279-b2af-6e2e1e0dafbc	40e2c457-030c-4524-af8a-0da16e6a4b63	g.chrX:138701798G>A	ENST00000370576.4	-	7	964	c.755C>T	c.(754-756)gCt>gTt	p.A252V	MCF2_ENST00000338585.6_Missense_Mutation_p.A252V|MCF2_ENST00000520602.1_Missense_Mutation_p.A312V|MCF2_ENST00000414978.1_Missense_Mutation_p.A312V|MCF2_ENST00000519895.1_Missense_Mutation_p.A312V|MCF2_ENST00000536274.1_Missense_Mutation_p.A213V|MCF2_ENST00000370573.4_Missense_Mutation_p.A252V|MCF2_ENST00000370578.4_Missense_Mutation_p.A397V	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	252					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTTACTTGAGCTATAGTCCC	0.289																																																	0								ENSG00000101977						33	31	32					X																	138701798		2202	4281	6483	MCF2	SO:0001583	missense	0			-	HGNC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.755C>T	X.37:g.138701798G>A	ENSP00000359608:p.Ala252Val	Somatic	0	57	0		0.748048273360763				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	69	26.60	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A397V	ENST00000370576.4	37	c.1190	CCDS14667.1	X	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722197	0.30503	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.2	1.3	0.21679	.	0.348665	0.33553	N	0.004785	T	0.37865	0.1019	L	0.59436	1.845	0.09310	N	1	B;B;B;B;B;B;B;B	0.26809	0.013;0.018;0.009;0.015;0.05;0.015;0.031;0.16	B;B;B;B;B;B;B;B	0.31290	0.08;0.008;0.127;0.059;0.081;0.06;0.043;0.08	T	0.25502	-1.0130	10	0.36615	T	0.2	.	2.9672	0.05911	0.1692:0.1462:0.5445:0.1401	.	312;397;213;252;252;397;252;252	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	V	312;252;213;397;312;312;252;252	ENSP00000427745:A312V;ENSP00000359608:A252V;ENSP00000438155:A213V;ENSP00000359610:A397V;ENSP00000397055:A312V;ENSP00000430276:A312V;ENSP00000359605:A252V;ENSP00000342204:A252V	ENSP00000342204:A252V	A	-	2	0	MCF2	138529464	0.064000	0.20934	0.004000	0.12327	0.892000	0.51952	1.344000	0.33941	0.140000	0.18849	0.600000	0.82982	GCT	-	smart_Spectrin/alpha-actinin		0.289	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	protein_coding	OTTHUMT00000058560.1	G	NM_005369	-		138701798	-1	no_errors	ENST00000370578	ensembl	human	known	74_37	missense	SNP	0.001	A	A	138701798	G	A	138701798	3	1	174	1	0	0	0	0	1	0	0	0	9380	971	34	2	2178	2	MCF2	23	138701798	Missense_Mutation	SNP	G	TCGA-KD-A5QS-01A-11D-A27P-09	84123026	138701798	16568762	77	12278											
SFRS4	6429	genome.wustl.edu	37	chr1	29475424	29475424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccggctccgactctggCggaggctcttctcctggctc	12	16	3	0	rs377019095		TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr1:29475424C>T	ENST00000373795.4	-	6	1217	c.983G>A	c.(982-984)cGc>cAc	p.R328H	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	328	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ccgactctggcggaggctctt	0.612																																																	0								ENSG00000116350	C	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	41	42	42		983	-2.1	0	1		42	0,8600		0,0,4300	no	missense	SRSF4	NM_005626.4	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	328/495	29475424	1,13003	2202	4300	6502	SRSF4	SO:0001583	missense	0			-	HGNC	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.983G>A	1.37:g.29475424C>T	ENSP00000362900:p.Arg328His	Somatic	0	50	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	25	48.98	Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R328H	ENST00000373795.4	37	c.983	CCDS333.1	1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313065	0.23908	2.27E-4	0.0	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.13657	2.57	5.54	-2.08	0.07254	.	0.905594	0.09098	N	0.848956	T	0.07007	0.0178	N	0.14661	0.345	0.20764	N	0.999857	B	0.02656	0.0	B	0.01281	0.0	T	0.35822	-0.9773	10	0.46703	T	0.11	.	5.0504	0.14505	0.1452:0.566:0.1911:0.0976	.	328	Q08170	SRSF4_HUMAN	H	328	ENSP00000362900:R328H	ENSP00000362900:R328H	R	-	2	0	SRSF4	29348011	0.444000	0.25649	0.002000	0.10522	0.726000	0.41606	0.163000	0.16520	-0.829000	0.04268	-0.262000	0.10625	CGC	-	NULL		0.612	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF4	protein_coding	OTTHUMT00000010392.1	C	NM_005626	-		29475424	-1	no_errors	ENST00000373795	ensembl	human	known	74_37	missense	SNP	0.011	T	T	29475424	C	T	29475424	3	4	175	1	0	0	0	0	1	0	0	0	14187	768	27	1	505	1	SFRS4	1	29475424	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09		29475424	219775197	1	12279											
C1orf210	149466	genome.wustl.edu	37	chr1	43748630	43748630	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggcatggtatcggcggcaGaggtggcatttggcagcaag	17	8	0	1			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr1:43748630G>T	ENST00000523677.1	-	3	401	c.168C>A	c.(166-168)ctC>ctA	p.L56L	C1orf210_ENST00000423420.1_Silent_p.L56L	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	56						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCGGCGGCAGAGGTGGCATT	0.632																																																	0								ENSG00000253313						52	51	51					1																	43748630		2203	4300	6503	C1orf210	SO:0001819	synonymous_variant	0			-	HGNC	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.168C>A	1.37:g.43748630G>T		Somatic	0	35	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	26	52.73	D3DPX2	Silent	SNP							NULL	p.L56	ENST00000523677.1	37	c.168	CCDS481.1	1																																																																																			-	NULL		0.632	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf210	protein_coding	OTTHUMT00000019035.2	G	NM_182517	-		43748630	-1	no_errors	ENST00000423420	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43748630	G	T	43748630	2	4	175	1	0	0	0	0	0	0	0	1	2031	929	33	3		3	C1orf210	1	43748630	Silent	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	14273206	43748630	205501991	2	12280											
USH2A	7399	genome.wustl.edu	37	chr1	216246484	216246484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaacactctgctcttttcCctggtaaaccaggatggagt	9	10	2	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr1:216246484C>T	ENST00000307340.3	-	28	6117	c.5731G>A	c.(5731-5733)Gga>Aga	p.G1911R	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.G1911R|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1911	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G1911R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCTTTTCCCTGGTAAACC	0.463										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	ovary(1)						ENSG00000042781						86	76	79					1																	216246484		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5731G>A	1.37:g.216246484C>T	ENSP00000305941:p.Gly1911Arg	Somatic	0	24	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G1911R	ENST00000307340.3	37	c.5731	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.249447	0.95305	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.44881	0.91;0.91	6.03	6.03	0.97812	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000492	T	0.67031	0.2850	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65344	-0.6191	10	0.56958	D	0.05	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1911	O75445	USH2A_HUMAN	R	1911	ENSP00000305941:G1911R;ENSP00000355910:G1911R	ENSP00000305941:G1911R	G	-	1	0	USH2A	214313107	1.000000	0.71417	0.907000	0.35723	0.999000	0.98932	7.294000	0.78760	2.854000	0.98071	0.655000	0.94253	GGA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123	-		216246484	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216246484	C	T	216246484	3	4	175	1	0	0	0	0	1	0	0	0	17043	632	22	2	10057	2	USH2A	1	216246484	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	172497854	216246484	33004137	3	12281											
URB2	9816	genome.wustl.edu	37	chr1	229773350	229773352	+	In_Frame_Del	DEL	TCC	TCC	-													tgatcccgcttggctggaatTcctccaagtgatagggacgt							TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr1:229773350_229773352delTCC	ENST00000258243.2	+	4	3126_3128	c.2990_2992delTCC	c.(2989-2994)ttcctc>ttc	p.L998del		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	998						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGCTGGAATTCCTCCAAGTGAT	0.429																																																	0								ENSG00000135763																																			URB2	SO:0001651	inframe_deletion	0				HGNC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2990_2992delTCC	1.37:g.229773353_229773355delTCC	ENSP00000258243:p.Leu998del	Somatic	0	65	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	37	47.14	Q5VYC9	In_Frame_Del	DEL							pfam_Urb2/Npa2_C	p.L998in_frame_del	ENST00000258243.2	37	c.2990_2992	CCDS31052.1	1																																																																																			-	NULL		0.429	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	TCC	NM_014777			229773352	1	no_errors	ENST00000258243	ensembl	human	known	74_37	in_frame_del	DEL	0.539:0.527:0.923	-	-	229773352	TCC	-	229773350	7	5	175	1	0	1	0	1	0	0	0	0	17032	1783	62	0	3000	0	URB2	1	229773350	In_Frame_Del	DEL	TCC	TCGA-KD-A5QT-01A-11D-A27P-09	13526866	229773350	19477271	4	12282											
TEKT4	150483	genome.wustl.edu	37	chr2	95539831	95539831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggtgcaggctcatccgTactccaccaccttccaagag	9	16	1	1	rs199573327		TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr2:95539831T>C	ENST00000295201.4	+	3	828	c.691T>C	c.(691-693)Tac>Cac	p.Y231H	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGCTCATCCGTACTCCACCAC	0.667																																																	0								ENSG00000163060						74	71	72					2																	95539831		2203	4300	6503	TEKT4	SO:0001583	missense	0			-	HGNC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.691T>C	2.37:g.95539831T>C	ENSP00000295201:p.Tyr231His	Somatic	0	31	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60		Missense_Mutation	SNP							pfam_Tektin,prints_Tektin	p.Y231H	ENST00000295201.4	37	c.691	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	5.627	0.300387	0.10678	.	.	ENSG00000163060	ENST00000295201	T	0.02345	4.33	2.24	-1.96	0.07525	.	0.327469	0.33813	N	0.004535	T	0.00845	0.0028	N	0.00801	-1.175	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55860	-0.8074	10	0.35671	T	0.21	-21.4175	3.0502	0.06167	0.1905:0.3928:0.0:0.4167	.	231	Q8WW24	TEKT4_HUMAN	H	231	ENSP00000295201:Y231H	ENSP00000295201:Y231H	Y	+	1	0	TEKT4	94903558	0.993000	0.37304	0.023000	0.16930	0.013000	0.08279	1.214000	0.32419	-1.071000	0.03145	-0.818000	0.03119	TAC	-	pfam_Tektin		0.667	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	protein_coding	OTTHUMT00000252777.1	T	NM_144705	rs199573327		95539831	1	no_errors	ENST00000295201	ensembl	human	known	74_37	missense	SNP	0.907	C	C	95539831	T	C	95539831	3	2	175	1	0	0	0	0	1	0	0	0	15762	1638	57	5	701	5	TEKT4	2	95539831	Missense_Mutation	SNP	T	TCGA-KD-A5QT-01A-11D-A27P-09		95539831	147659542	5	12283											
LRP1B	53353	genome.wustl.edu	37	chr2	141202013	141202013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctgacaggcagacatGtgtgtctagaacatagaagg	12	7	1	5			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr2:141202013G>T	ENST00000389484.3	-	65	11151	c.10180C>A	c.(10180-10182)Cat>Aat	p.H3394N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3394					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)		AGGCAGACATGTGTGTCTAGA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						158	146	150					2																	141202013		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.10180C>A	2.37:g.141202013G>T	ENSP00000374135:p.His3394Asn	Somatic	0	70	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	3	90.91	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H3394N	ENST00000389484.3	37	c.10180	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006161	0.54361	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.58797	0.31	5.32	5.32	0.75619	.	0.072938	0.56097	U	0.000027	T	0.63295	0.2499	L	0.48174	1.505	0.38559	D	0.949641	D	0.53619	0.961	P	0.51974	0.686	T	0.61078	-0.7135	10	0.30854	T	0.27	.	19.189	0.93656	0.0:0.0:1.0:0.0	.	3394	Q9NZR2	LRP1B_HUMAN	N	3394;3332	ENSP00000374135:H3394N	ENSP00000374135:H3394N	H	-	1	0	LRP1B	140918483	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	5.877000	0.69675	2.767000	0.95098	0.563000	0.77884	CAT	-	superfamily_LDrepeatLR_classA_rpt		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		141202013	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141202013	G	T	141202013	3	4	175	1	0	0	0	0	1	0	0	0	8957	1377	48	3	3727	3	LRP1B	2	141202013	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	45662182	141202013	101997360	6	12284											
DNAJB2	3300	genome.wustl.edu	37	chr2	220147939	220147939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccacctttgtccaaggacGccgcatcaccacacgcaggt	8	16	1	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr2:220147939G>T	ENST00000336576.5	+	7	818	c.530G>T	c.(529-531)cGc>cTc	p.R177L	DNAJB2_ENST00000392086.4_Missense_Mutation_p.R177L|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	177					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCAAGGACGCCGCATCACC	0.547																																																	0								ENSG00000135924						78	68	71					2																	220147939		2203	4300	6503	DNAJB2	SO:0001583	missense	0			-	HGNC		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.530G>T	2.37:g.220147939G>T	ENSP00000338019:p.Arg177Leu	Somatic	0	71	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	19	63.46	A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain	p.R177L	ENST00000336576.5	37	c.530	CCDS2439.1	2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408861	0.42715	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000392087	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.46	-4.83	0.03161	.	0.282909	0.29466	N	0.012077	T	0.45895	0.1365	M	0.81341	2.54	0.21147	N	0.999772	B;B	0.33413	0.411;0.095	B;B	0.31101	0.124;0.084	T	0.46830	-0.9163	10	0.87932	D	0	.	15.8328	0.78769	0.6754:0.0:0.3246:0.0	.	177;177	P25686;P25686-2	DNJB2_HUMAN;.	L	177;177;177;146	ENSP00000338019:R177L;ENSP00000414796:R177L;ENSP00000375936:R177L;ENSP00000375937:R146L	ENSP00000338019:R177L	R	+	2	0	DNAJB2	219856183	0.000000	0.05858	0.507000	0.27676	0.703000	0.40648	-0.809000	0.04510	-1.183000	0.02723	-1.008000	0.02478	CGC	-	NULL		0.547	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	protein_coding	OTTHUMT00000256823.2	G		-		220147939	1	no_errors	ENST00000336576	ensembl	human	known	74_37	missense	SNP	0.121	T	T	220147939	G	T	220147939	3	4	175	1	0	0	0	0	1	0	0	0	4622	1087	38	3	552	3	DNAJB2	2	220147939	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	78945926	220147939	23051434	7	12285											
SETD2	29072	genome.wustl.edu	37	chr3	47164759	47164759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgagtcagaactctctCgtgctctgttatctgtgtat	8	10	5	2			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr3:47164759C>T	ENST00000409792.3	-	3	1409	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	456	Arg-rich.				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)		AGAACTCTCTCGTGCTCTGTT	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								ENSG00000181555						262	201	219					3																	47164759		692	1591	2283	SETD2	SO:0001583	missense	0			-	HGNC	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.1367G>A	3.37:g.47164759C>T	ENSP00000386759:p.Arg456Gln	Somatic	0	88	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	56	31.33	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP							pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.R456Q	ENST00000409792.3	37	c.1367	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448030	0.84101	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	T;T	0.14893	2.47;2.47	5.0	5.0	0.66597	.	.	.	.	.	T	0.30541	0.0768	N	0.24115	0.695	0.47037	D	0.99929	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.08848	-1.0702	9	0.87932	D	0	.	18.8556	0.92251	0.0:1.0:0.0:0.0	.	456;456	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	456;456;456;412	ENSP00000386759:R456Q;ENSP00000416401:R412Q	ENSP00000386759:R456Q	R	-	2	0	SETD2	47139763	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	5.560000	0.67332	2.758000	0.94735	0.655000	0.94253	CGA	-	NULL		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	protein_coding	OTTHUMT00000257479.2	C	NM_014159	-		47164759	-1	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	SNP	0.990	T	T	47164759	C	T	47164759	3	4	175	1	0	0	0	0	1	0	0	0	14139	884	31	1	6403	1	SETD2	3	47164759	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09		47164759	150857671	8	12286											
SUCNR1	56670	genome.wustl.edu	37	chr3	151598364	151598364	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taggcatggaatgcaacttgCaaaaactggctggcagcaga	12	8	0	1			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr3:151598364C>G	ENST00000362032.5	+	3	138	c.33C>G	c.(31-33)tgC>tgG	p.C11W	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	11						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	ATGCAACTTGCAAAAACTGGC	0.388																																																	0								ENSG00000198829						77	80	79					3																	151598364		2202	4299	6501	SUCNR1	SO:0001583	missense	0			-	HGNC	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.33C>G	3.37:g.151598364C>G	ENSP00000355156:p.Cys11Trp	Somatic	0	71	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	A8K305|Q8TDQ8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.C11W	ENST00000362032.5	37	c.33	CCDS3162.1	3	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642187	0.47153	.	.	ENSG00000198829	ENST00000362032	T	0.60672	0.17	5.17	-0.183	0.13284	.	0.057591	0.64402	D	0.000001	T	0.47985	0.1475	N	0.08118	0	0.32473	N	0.542584	D	0.76494	0.999	D	0.65140	0.932	T	0.57033	-0.7880	10	0.56958	D	0.05	.	7.2244	0.26007	0.1056:0.4728:0.0:0.4215	.	11	Q9BXA5	SUCR1_HUMAN	W	11	ENSP00000355156:C11W	ENSP00000355156:C11W	C	+	3	2	SUCNR1	153081054	0.006000	0.16342	0.099000	0.21106	0.195000	0.23768	-0.255000	0.08769	-0.021000	0.14009	0.655000	0.94253	TGC	-	NULL		0.388	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCNR1	protein_coding	OTTHUMT00000357897.2	C	NM_033050	-		151598364	1	no_errors	ENST00000362032	ensembl	human	known	74_37	missense	SNP	0.015	G	G	151598364	C	G	151598364	3	3	175	1	0	0	0	0	1	0	0	0	15373	718	25	4	39	4	SUCNR1	3	151598364	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	104433605	151598364	46424066	9	12287											
CHRD	8646	genome.wustl.edu	37	chr3	184099338	184099339	+	Frame_Shift_Ins	INS	-	-	C													tccttcgagtatccgcgggaINScccggagcatcgcagttata							TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr3:184099338_184099339insC	ENST00000204604.1	+	4	683_684	c.437_438insC	c.(436-441)gacccgfs	p.DP146fs	CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000348986.3_Frame_Shift_Ins_p.DP146fs|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000450923.1_Frame_Shift_Ins_p.DP146fs	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	146					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TATCCGCGGGACCCGGAGCATC	0.703																																																	0								ENSG00000090539																																			CHRD	SO:0001589	frameshift_variant	0				HGNC	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.440dupC	3.37:g.184099341_184099341dupC	ENSP00000204604:p.Asp146fs	Somatic	0	21	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Frame_Shift_Ins	INS							pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.E148fs	ENST00000204604.1	37	c.437_438	CCDS3266.1	3																																																																																			-	pirsf_Chordin		0.703	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	protein_coding	OTTHUMT00000280432.1	-	NM_003741			184099339	1	no_errors	ENST00000204604	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.988	C	C	184099339	-	C	184099338	7	5	175	1	0	1	1	0	0	0	0	0	3374	275	10	0	451	0	CHRD	3	184099338	Frame_Shift_Ins	INS	-	TCGA-KD-A5QT-01A-11D-A27P-09	32500974	184099338	13923092	10	12288											
DOK7	285489	genome.wustl.edu	37	chr4	3475303	3475303	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccatcatgctgggcTttgacagccacgaggccatg	12	14	1	1			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr4:3475303T>A	ENST00000340083.5	+	3	336	c.271T>A	c.(271-273)Ttt>Att	p.F91I	DOK7_ENST00000507039.1_Missense_Mutation_p.F91I|DOK7_ENST00000389653.2_Missense_Mutation_p.F91I	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	91	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CATGCTGGGCTTTGACAGCCA	0.697																																																	0								ENSG00000175920						25	29	28					4																	3475303		2080	4208	6288	DOK7	SO:0001583	missense	0			-	HGNC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.271T>A	4.37:g.3475303T>A	ENSP00000344432:p.Phe91Ile	Somatic	0	69	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	41	48.10	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.F91I	ENST00000340083.5	37	c.271	CCDS3370.2	4	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305466	0.81247	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	T;T;T	0.80824	-1.42;-1.42;-1.42	3.7	3.7	0.42460	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.72894	2.215	0.46927	D	0.999255	D	0.76494	0.999	D	0.77557	0.99	D	0.88409	0.3020	10	0.72032	D	0.01	-15.6363	11.7281	0.51720	0.0:0.0:0.0:1.0	.	91	Q18PE1	DOK7_HUMAN	I	91	ENSP00000374304:F91I;ENSP00000423614:F91I;ENSP00000344432:F91I	ENSP00000344432:F91I	F	+	1	0	DOK7	3445101	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	7.125000	0.77193	1.558000	0.49541	0.402000	0.26972	TTT	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.697	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOK7	protein_coding	OTTHUMT00000313538.1	T	NM_173660	-		3475303	1	no_errors	ENST00000389653	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3475303	T	A	3475303	3	1	175	1	0	0	0	0	1	0	0	0	4704	1609	56	5	281	5	DOK7	4	3475303	Missense_Mutation	SNP	T	TCGA-KD-A5QT-01A-11D-A27P-09		3475303	187678973	11	12289											
DCAF16	54876	genome.wustl.edu	37	chr4	17805189	17805189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtagtgttgatgggttcAgtacgagttgtttccttaac	11	5	1	1			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr4:17805189A>G	ENST00000382247.1	-	3	1636	c.576T>C	c.(574-576)acT>acC	p.T192T	DCAF16_ENST00000536863.1_Silent_p.T192T|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	192					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TGATGGGTTCAGTACGAGTTG	0.408																																																	0								ENSG00000163257						214	198	203					4																	17805189		2203	4300	6503	DCAF16	SO:0001819	synonymous_variant	0			-	HGNC	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.576T>C	4.37:g.17805189A>G		Somatic	0	148	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	99	18.03	B3KPB7	Silent	SNP							NULL	p.T192	ENST00000382247.1	37	c.576	CCDS3423.1	4																																																																																			-	NULL		0.408	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	protein_coding	OTTHUMT00000250371.1	A	NM_017741	-		17805189	-1	no_errors	ENST00000382247	ensembl	human	known	74_37	silent	SNP	0.702	G	G	17805189	A	G	17805189	2	3	175	1	0	0	0	0	0	0	0	1	4270	175	7	5		5	DCAF16	4	17805189	Silent	SNP	A	TCGA-KD-A5QT-01A-11D-A27P-09	14329886	17805189	173349087	12	12290											
DCHS2	54798	genome.wustl.edu	37	chr4	155298547	155298547	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaggaatccatcataaagaGaatattcaataaagccatag	6	7	3	1			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr4:155298547G>A	ENST00000357232.4	-	3	283	c.284C>T	c.(283-285)tCt>tTt	p.S95F	DCHS2_ENST00000339452.1_Missense_Mutation_p.S701F	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	95	Cadherin 1. {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)		ATCATAAAGAGAATATTCAAT	0.453																																																	0								ENSG00000197410						79	78	78					4																	155298547		2203	4300	6503	DCHS2	SO:0001583	missense	0			-	HGNC	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.284C>T	4.37:g.155298547G>A	ENSP00000349768:p.Ser95Phe	Somatic	0	43	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S95F	ENST00000357232.4	37	c.284	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887234	0.17540	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.55052	0.54;0.54	5.64	2.57	0.30868	Cadherin (4);Cadherin-like (1);	0.201719	0.34133	N	0.004230	T	0.44932	0.1317	L	0.48986	1.54	0.58432	D	0.999991	B;B	0.18166	0.016;0.026	B;B	0.19946	0.022;0.027	T	0.39057	-0.9632	10	0.44086	T	0.13	.	10.5153	0.44885	0.2807:0.0:0.7193:0.0	.	701;95	E9PC11;Q6V1P9	.;PCD23_HUMAN	F	95;701;701	ENSP00000349768:S95F;ENSP00000345062:S701F	ENSP00000345062:S701F	S	-	2	0	DCHS2	155517997	0.985000	0.35326	0.487000	0.27428	0.665000	0.39181	0.783000	0.26802	0.748000	0.32831	0.561000	0.74099	TCT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	G	NM_001142552	-		155298547	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	SNP	0.861	A	A	155298547	G	A	155298547	3	1	175	1	0	0	0	0	1	0	0	0	4290	942	33	2	8654	2	DCHS2	4	155298547	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	137493358	155298547	35855729	13	12291											
JARID2	3720	genome.wustl.edu	37	chr6	15496913	15496913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgaacggacacgtgaAgaaggaagtgccggagcgca	15	9	1	3			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr6:15496913A>G	ENST00000341776.2	+	7	1701	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	JARID2_ENST00000397311.3_Missense_Mutation_p.K314R|JARID2_ENST00000541660.1_Missense_Mutation_p.K448R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	486					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGACACGTGAAGAAGGAAGTG	0.677																																																	0								ENSG00000008083						30	34	33					6																	15496913		2203	4299	6502	JARID2	SO:0001583	missense	0			-	HGNC	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1457A>G	6.37:g.15496913A>G	ENSP00000341280:p.Lys486Arg	Somatic	0	37	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	2	93.10	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.K486R	ENST00000341776.2	37	c.1457	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	A	11.78	1.741266	0.30865	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.88975	-1.81;-1.81;-2.45	5.4	2.66	0.31614	.	0.385685	0.28647	N	0.014608	T	0.65974	0.2743	N	0.17082	0.46	0.25253	N	0.98965	B;B;B	0.17465	0.001;0.022;0.0	B;B;B	0.17433	0.004;0.018;0.001	T	0.59915	-0.7364	10	0.41790	T	0.15	-13.1268	10.7128	0.45993	0.7903:0.0:0.2097:0.0	.	448;350;486	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	R	350;486;314;448	ENSP00000341280:K486R;ENSP00000380478:K314R;ENSP00000444623:K448R	ENSP00000341280:K486R	K	+	2	0	JARID2	15604892	1.000000	0.71417	0.951000	0.38953	0.797000	0.45037	2.338000	0.43957	0.877000	0.35895	0.459000	0.35465	AAG	-	NULL		0.677	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	protein_coding	OTTHUMT00000039926.1	A	NM_004973	-		15496913	1	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	SNP	0.620	G	G	15496913	A	G	15496913	3	3	175	1	0	0	0	0	1	0	0	0	7947	72	3	5	1483	5	JARID2	6	15496913	Missense_Mutation	SNP	A	TCGA-KD-A5QT-01A-11D-A27P-09		15496913	155618154	14	12292											
ARRDC1	92714	genome.wustl.edu	37	chr9	140508122	140508122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcgtgcaccaggtgagGgccgccatccacacgccacg	12	15	0	2			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr9:140508122G>A	ENST00000371421.4	+	4	400	c.336G>A	c.(334-336)agG>agA	p.R112R	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	112						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		ACCAGGTGAGGGCCGCCATCC	0.587																																																	0								ENSG00000197070						165	140	148					9																	140508122		2203	4300	6503	ARRDC1	SO:0001819	synonymous_variant	0			-	HGNC	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.336G>A	9.37:g.140508122G>A		Somatic	0	65	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	39	50.63		Silent	SNP							pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R112	ENST00000371421.4	37	c.336	CCDS7049.1	9																																																																																			-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.587	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC1	protein_coding	OTTHUMT00000055358.1	G	NM_152285	-		140508122	1	no_errors	ENST00000371421	ensembl	human	known	74_37	silent	SNP	0.999	A	A	140508122	G	A	140508122	2	1	175	1	0	0	0	0	0	0	0	1	982	1223	43	2		2	ARRDC1	9	140508122	Silent	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09		140508122	705309	15	12293											
TUBB8	347688	genome.wustl.edu	37	chr10	93505	93505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtactgctggctgcccCggctggtcagtggggcaaag	16	13	1	0	rs147114528	byFrequency	TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr10:93505C>T	ENST00000309812.4	-	4	889	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.R204Q|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	276					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R276Q(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGGCTGCCCCGGCTGGTCAG	0.627																																					Pancreas(192;2041 3010 9013 18103)												1	Substitution - Missense(1)	NS(1)						ENSG00000173876						21	26	24					10																	93505		1645	3246	4891	TUBB8	SO:0001583	missense	0			-	HGNC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.827G>A	10.37:g.93505C>T	ENSP00000311042:p.Arg276Gln	Somatic	0	81	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.00	Q5SQX9|Q8WZ78	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.R276Q	ENST00000309812.4	37	c.827	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301072	0.23650	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.80994	-1.44	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.094074	0.38326	N	0.001737	T	0.77046	0.4073	M	0.66560	2.04	0.28122	N	0.930544	B;P	0.44776	0.06;0.843	B;P	0.45167	0.009;0.472	T	0.71020	-0.4713	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	239;276	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	Q	204;242;239;276	ENSP00000403895:R204Q	ENSP00000272035:R242Q	R	-	2	0	RP11-631M21.2	83505	0.994000	0.37717	0.219000	0.23793	0.222000	0.24845	3.707000	0.54838	0.119000	0.18210	0.121000	0.15741	CGG	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin		0.627	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	protein_coding	OTTHUMT00000467795.1	C	NM_177987	rs147114528		93505	-1	no_errors	ENST00000309812	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93505	C	T	93505	3	4	175	1	0	0	0	0	1	0	0	0	16768	652	23	1	511	1	TUBB8	10	93505	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09		93505	135441242	16	12294											
LIPF	8513	genome.wustl.edu	37	chr10	90438361	90438361	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcctttttacaatcacttgGactttatctgggcaatggat	7	8	2	0	rs150812830		TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr10:90438361G>C	ENST00000238983.4	+	10	1166	c.1120G>C	c.(1120-1122)Gac>Cac	p.D374H	LIPF_ENST00000394375.3_Missense_Mutation_p.D384H|LIPF_ENST00000355843.2_Missense_Mutation_p.D351H|LIPF_ENST00000608620.1_Missense_Mutation_p.D341H	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	374					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CAATCACTTGGACTTTATCTG	0.398																																																	0								ENSG00000182333	G	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	1,4405	2.1+/-5.4	0,1,2202	92	95	94		1021,1150,1051,1120	4.1	1	10	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense,missense	LIPF	NM_001198828.1,NM_001198829.1,NM_001198830.1,NM_004190.3	81,81,81,81	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	341/366,384/409,351/376,374/399	90438361	1,13005	2203	4300	6503	LIPF	SO:0001583	missense	0			-	HGNC	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1120G>C	10.37:g.90438361G>C	ENSP00000238983:p.Asp374His	Somatic	0	68	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	48	45.56	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP							pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.D384H	ENST00000238983.4	37	c.1150	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	18.54	3.647063	0.67358	2.27E-4	0.0	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.72942	-0.7;-0.7;-0.7	5.01	4.1	0.47936	Alpha/beta hydrolase fold-1 (1);	0.000000	0.56097	D	0.000036	D	0.88529	0.6461	H	0.95884	3.735	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;1.0	D	0.92027	0.5630	10	0.87932	D	0	-16.174	14.1108	0.65120	0.0:0.0:0.8481:0.1519	.	341;384;351;374	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	H	384;374;341	ENSP00000377900:D384H;ENSP00000238983:D374H;ENSP00000348101:D341H	ENSP00000238983:D374H	D	+	1	0	LIPF	90428341	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	6.026000	0.70873	1.466000	0.48025	0.655000	0.94253	GAC	-	pfam_AB_hydrolase_1		0.398	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	protein_coding	OTTHUMT00000049256.1	G		rs150812830		90438361	1	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90438361	G	C	90438361	3	2	175	1	0	0	0	0	1	0	0	0	8824	1174	41	4	1154	4	LIPF	10	90438361	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	90344856	90438361	45096386	17	12295											
TRPM5	29850	genome.wustl.edu	37	chr11	2443469	2443469	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccagggacaccaccAggttgggggccggcaggtgc	15	15	0	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr11:2443469A>T	ENST00000155858.6	-	2	208	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	TRPM5_ENST00000528453.1_Missense_Mutation_p.L67Q|TRPM5_ENST00000452833.1_Missense_Mutation_p.L67Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.L67Q	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGACACCACCAGGTTGGGGGC	0.647																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						49	53	52					11																	2443469		2201	4297	6498	TRPM5	SO:0001583	missense	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.200T>A	11.37:g.2443469A>T	ENSP00000155858:p.Leu67Gln	Somatic	0	37	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	20	52.38		Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.L67Q	ENST00000155858.6	37	c.200	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	a	18.44	3.625237	0.66901	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	3.43	2.28	0.28536	.	0.000000	0.46442	U	0.000296	T	0.30634	0.0771	M	0.88906	2.99	0.34506	D	0.706614	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.992;0.992;0.994	T	0.36625	-0.9740	10	0.87932	D	0	-2.9042	3.2509	0.06814	0.6742:0.0:0.1211:0.2047	.	67;67;67	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	59;67;67;67;67;67	ENSP00000434383:L59Q;ENSP00000155858:L67Q;ENSP00000387965:L67Q;ENSP00000434121:L67Q;ENSP00000436809:L67Q	ENSP00000155858:L67Q	L	-	2	0	TRPM5	2400045	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	5.716000	0.68437	0.491000	0.27793	0.478000	0.44815	CTG	-	NULL		0.647	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	A	NM_014555	-		2443469	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2443469	A	T	2443469	3	4	175	1	0	0	0	0	1	0	0	0	16596	188	7	5	3389	5	TRPM5	11	2443469	Missense_Mutation	SNP	A	TCGA-KD-A5QT-01A-11D-A27P-09		2443469	132563047	18	12296											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7669672	7669672	+	Silent	SNP	G	G	T													gagcgtgtgtgtgcatggctGgaggactttggcctggctca							TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr11:7669672G>T	ENST00000299492.4	+	18	2089	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	PPFIBP2_ENST00000530181.1_Silent_p.L424L|PPFIBP2_ENST00000528883.1_Silent_p.L455L|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.L409L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	567	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGCATGGCTGGAGGACTTTG	0.542																																																	0								ENSG00000166387						169	127	141					11																	7669672		2201	4296	6497	PPFIBP2	SO:0001819	synonymous_variant	0			-	HGNC	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1701G>T	11.37:g.7669672G>T		Somatic	0	54	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP							pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L567	ENST00000299492.4	37	c.1701	CCDS31419.1	11																																																																																			-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.542	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	protein_coding	OTTHUMT00000385345.2	G	NM_003621	-		7669672	1	no_errors	ENST00000299492	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7669672	G	T	7669672	2	4	175	1	0	0	0	0	0	0	0	1	12316	1335	47	3		3	PPFIBP2	11	7669672	Silent	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	5226203	7669672	127336844	19	12297	189	2									
PPFIBP2	8495	genome.wustl.edu	37	chr11	7669673	7669673	+	Nonsense_Mutation	SNP	G	G	T													agcgtgtgtgtgcatggctgGaggactttggcctggctcag							TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr11:7669673G>T	ENST00000299492.4	+	18	2090	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.E425*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.E456*|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.E410*	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	568	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGCATGGCTGGAGGACTTTGG	0.547																																																	0								ENSG00000166387						171	128	143					11																	7669673		2201	4296	6497	PPFIBP2	SO:0001587	stop_gained	0			-	HGNC	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1702G>T	11.37:g.7669673G>T	ENSP00000299492:p.Glu568*	Somatic	0	54	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP							pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E568*	ENST00000299492.4	37	c.1702	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.877456	0.98539	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	.	.	.	5.74	4.82	0.62117	.	0.137093	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.8167	14.7604	0.69602	0.0:0.145:0.855:0.0	.	.	.	.	X	568;410;491;456;425	.	ENSP00000299492:E568X	E	+	1	0	PPFIBP2	7626249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.639000	0.74314	1.409000	0.46915	0.561000	0.74099	GAG	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	protein_coding	OTTHUMT00000385345.2	G	NM_003621	-		7669673	1	no_errors	ENST00000299492	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	7669673	G	T	7669673	4	4	175	1	0	0	0	0	0	1	0	0	12316	1175	41	3	1768	3	PPFIBP2	11	7669673	Nonsense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	1	7669673	127336843	20	12298	189	2									
RAB6A	5870	genome.wustl.edu	37	chr11	73429869	73429869	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagctgcagcagaatcacGgatgtaactgggaatgaggc	13	8	1	2			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr11:73429869G>A	ENST00000336083.3	-	4	639				RAB6A_ENST00000310653.6_Missense_Mutation_p.R84C|RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000536566.1_Missense_Mutation_p.R51C	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family						antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)	p.R84C(1)		large_intestine(2)|lung(2)	4						GCAGAATCACGGATGTAACTG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000175582						128	125	126					11																	73429869		2200	4293	6493	RAB6A	SO:0001627	intron_variant	0			-	HGNC	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.184-106C>T	11.37:g.73429869G>A		Somatic	0	71	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	31	50.79	A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R84C	ENST00000336083.3	37	c.250	CCDS8224.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366959	0.82463	.	.	ENSG00000175582	ENST00000310653;ENST00000393571;ENST00000536566;ENST00000539750	D;D	0.82526	-1.62;-1.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96244	0.9178	10	0.87932	D	0	-1.1727	19.2924	0.94105	0.0:0.0:1.0:0.0	.	84	P20340-2	.	C	84;84;51;84	ENSP00000311449:R84C;ENSP00000437863:R51C	ENSP00000311449:R84C	R	-	1	0	RAB6A	73107517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.199000	0.72112	2.878000	0.98634	0.650000	0.86243	CGT	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.398	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	protein_coding	OTTHUMT00000259241.2	G		-		73429869	-1	no_errors	ENST00000310653	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73429869	G	A	73429869	1	1	175	0	1	0	0	0	0	0	0	0	12959	1116	39	1		1	RAB6A	11	73429869	Intron	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	65760196	73429869	61576647	21	12299											
ZBTB16	7704	genome.wustl.edu	37	chr11	113934249	113934249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatactttggacttcctctCgccaaagaccttccagcaga	6	14	1	2			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr11:113934249C>T	ENST00000335953.4	+	2	607	c.227C>T	c.(226-228)tCg>tTg	p.S76L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S76L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACTTCCTCTCGCCAAAGACC	0.557																																																	0								ENSG00000109906						91	73	79					11																	113934249		2201	4296	6497	ZBTB16	SO:0001583	missense	0			-	HGNC	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.227C>T	11.37:g.113934249C>T	ENSP00000338157:p.Ser76Leu	Somatic	0	40	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	36	29.41	Q8TAL4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S76L	ENST00000335953.4	37	c.227	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169646	0.78452	.	.	ENSG00000109906	ENST00000335953;ENST00000544220;ENST00000535700;ENST00000392996;ENST00000310883	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.53	5.53	0.82687	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61978	-0.6951	10	0.87932	D	0	-4.7149	19.827	0.96621	0.0:1.0:0.0:0.0	.	76;81	Q05516;Q59H43	ZBT16_HUMAN;.	L	76	ENSP00000338157:S76L;ENSP00000437716:S76L;ENSP00000443013:S76L;ENSP00000376721:S76L	ENSP00000309507:S76L	S	+	2	0	ZBTB16	113439459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.759000	0.94783	0.561000	0.74099	TCG	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.557	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	protein_coding	OTTHUMT00000398940.1	C	NM_006006	-		113934249	1	no_errors	ENST00000335953	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113934249	C	T	113934249	3	4	175	1	0	0	0	0	1	0	0	0	17533	893	31	1	229	1	ZBTB16	11	113934249	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	40504380	113934249	21072267	22	12300											
FKBP4	2288	genome.wustl.edu	37	chr12	2907947	2907947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattcgcagaatacagactCgcggtgaaggctatgctaag	11	9	1	3			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr12:2907947C>T	ENST00000001008.4	+	4	656	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	157					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			AATACAGACTCGCGGTGAAGG	0.473																																																	0								ENSG00000004478						140	126	131					12																	2907947		2203	4300	6503	FKBP4	SO:0001583	missense	0			-	HGNC	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.469C>T	12.37:g.2907947C>T	ENSP00000001008:p.Arg157Cys	Somatic	0	62	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	31	48.33	D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.R157C	ENST00000001008.4	37	c.469	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430606	0.62844	.	.	ENSG00000004478	ENST00000001008	D	0.81908	-1.55	4.87	3.94	0.45596	.	0.053349	0.64402	D	0.000002	T	0.75339	0.3836	L	0.38838	1.175	0.50313	D	0.999869	D	0.69078	0.997	B	0.42882	0.401	T	0.79115	-0.1936	10	0.72032	D	0.01	-20.5487	11.3624	0.49651	0.3866:0.6134:0.0:0.0	.	157	Q02790	FKBP4_HUMAN	C	157	ENSP00000001008:R157C	ENSP00000001008:R157C	R	+	1	0	FKBP4	2778208	0.999000	0.42202	0.999000	0.59377	0.425000	0.31504	4.247000	0.58750	2.242000	0.73789	0.563000	0.77884	CGC	-	NULL		0.473	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	protein_coding	OTTHUMT00000206861.1	C		-		2907947	1	no_errors	ENST00000001008	ensembl	human	known	74_37	missense	SNP	0.975	T	T	2907947	C	T	2907947	3	4	175	1	0	0	0	0	1	0	0	0	5912	884	31	1	483	1	FKBP4	12	2907947	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09		2907947	130943948	23	12301											
DIP2B	57609	genome.wustl.edu	37	chr12	51125291	51125291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatggagctctgcaccaaaGgtcttgggaaccaagtggaa	13	8	2	1			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr12:51125291G>T	ENST00000301180.5	+	31	3815	c.3781G>T	c.(3781-3783)Ggt>Tgt	p.G1261C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1261						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGCACCAAAGGTCTTGGGAA	0.502																																																	0								ENSG00000066084						85	87	86					12																	51125291		2203	4300	6503	DIP2B	SO:0001583	missense	0			-	HGNC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3781G>T	12.37:g.51125291G>T	ENSP00000301180:p.Gly1261Cys	Somatic	0	22	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	12	57.14	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.G1261C	ENST00000301180.5	37	c.3781	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709543	0.89018	.	.	ENSG00000066084	ENST00000301180	T	0.10860	2.83	4.85	4.85	0.62838	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02774	-1.1112	10	0.66056	D	0.02	-15.4181	18.5347	0.91006	0.0:0.0:1.0:0.0	.	1261	Q9P265	DIP2B_HUMAN	C	1261	ENSP00000301180:G1261C	ENSP00000301180:G1261C	G	+	1	0	DIP2B	49411558	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.860000	0.86993	2.686000	0.91538	0.555000	0.69702	GGT	-	pfam_AMP-dep_Synth/Lig		0.502	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	protein_coding	OTTHUMT00000404243.1	G	NM_173602	-		51125291	1	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51125291	G	T	51125291	3	4	175	1	0	0	0	0	1	0	0	0	4530	1000	35	3	3903	3	DIP2B	12	51125291	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	48217344	51125291	82726604	24	12302											
TMTC3	160418	genome.wustl.edu	37	chr12	88566467	88566467	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcgagtattatatgttcccAgcatggggttctgtattttg	11	6	1	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr12:88566467A>T	ENST00000266712.6	+	8	1364	c.1144A>T	c.(1144-1146)Agc>Tgc	p.S382C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	382					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATATGTTCCCAGCATGGGGTT	0.373																																																	0								ENSG00000139324						123	118	119					12																	88566467		2203	4299	6502	TMTC3	SO:0001583	missense	0			-	HGNC		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1144A>T	12.37:g.88566467A>T	ENSP00000266712:p.Ser382Cys	Somatic	0	34	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	20	47.37	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP							pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S382C	ENST00000266712.6	37	c.1144	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811623	0.90707	.	.	ENSG00000139324	ENST00000266712	T	0.52057	0.68	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.92077	3.27	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.82123	-0.0613	10	0.62326	D	0.03	-8.4958	15.6784	0.77349	1.0:0.0:0.0:0.0	.	382	Q6ZXV5-2	.	C	382	ENSP00000266712:S382C	ENSP00000266712:S382C	S	+	1	0	TMTC3	87090598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.228000	0.95250	2.090000	0.63153	0.528000	0.53228	AGC	-	NULL		0.373	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	protein_coding	OTTHUMT00000406421.1	A	NM_181783	-		88566467	1	no_errors	ENST00000266712	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88566467	A	T	88566467	3	4	175	1	0	0	0	0	1	0	0	0	16269	188	7	5	1170	5	TMTC3	12	88566467	Missense_Mutation	SNP	A	TCGA-KD-A5QT-01A-11D-A27P-09	37441176	88566467	45285428	25	12303											
MTUS2	23281	genome.wustl.edu	37	chr13	29674957	29674957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcaaaatccaatctcCcgaaatctggtctccgtcct	6	14	3	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr13:29674957C>T	ENST00000431530.3	+	3	2582	c.2524C>T	c.(2524-2526)Ccg>Tcg	p.P842S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	832	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					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						ATCCAATCTCCCGAAATCTGG	0.453																																																	0								ENSG00000132938						10	10	10					13																	29674957		1716	3810	5526	MTUS2	SO:0001583	missense	0			-	HGNC	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.2524C>T	13.37:g.29674957C>T	ENSP00000392057:p.Pro842Ser	Somatic	0	61	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	35	43.55	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP							NULL	p.P842S	ENST00000431530.3	37	c.2524	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934678	0.34189	.	.	ENSG00000132938	ENST00000431530	T	0.25749	1.78	5.79	4.08	0.47627	.	0.079154	0.51477	D	0.000096	T	0.28830	0.0715	M	0.66939	2.045	0.50467	D	0.999875	B	0.22683	0.073	B	0.28139	0.086	T	0.03898	-1.0994	9	.	.	.	.	11.8593	0.52457	0.0:0.8588:0.0:0.1412	.	832	Q5JR59	MTUS2_HUMAN	S	842	ENSP00000392057:P842S	.	P	+	1	0	MTUS2	28572957	.	.	0.002000	0.10522	0.004000	0.04260	.	.	0.808000	0.34231	0.655000	0.94253	CCG	-	NULL		0.453	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	C	XM_166270	-		29674957	1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	SNP	0.182	T	T	29674957	C	T	29674957	3	4	175	1	0	0	0	0	1	0	0	0	9968	623	22	2	2534	2	MTUS2	13	29674957	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09		29674957	85494921	26	12304			1	88		3	3	92	C		7.182508e-09
MTUS2	23281	genome.wustl.edu	37	chr13	29675028	29675028	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggcggcatttggctttgtCcggagctccagcgtctcctc	12	14	1	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr13:29675028C>G	ENST00000431530.3	+	3	2653	c.2595C>G	c.(2593-2595)gtC>gtG	p.V865V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	855	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					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						TTGGCTTTGTCCGGAGCTCCA	0.622																																																	0								ENSG00000132938						9	10	10					13																	29675028		2018	4165	6183	MTUS2	SO:0001819	synonymous_variant	0			-	HGNC	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.2595C>G	13.37:g.29675028C>G		Somatic	0	76	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	43	41.10	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP							NULL	p.V865	ENST00000431530.3	37	c.2595	CCDS45022.1	13																																																																																			-	NULL		0.622	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	C	XM_166270	-		29675028	1	no_errors	ENST00000431530	ensembl	human	known	74_37	silent	SNP	1.000	G	G	29675028	C	G	29675028	2	3	175	1	0	0	0	0	0	0	0	1	9968	842	30	4		4	MTUS2	13	29675028	Silent	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	71	29675028	85494850	27	12305			1	88		3	3	92	C		7.182508e-09
MTUS2	23281	genome.wustl.edu	37	chr13	29675048	29675048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggagctccagcgtctcctCagtctccagcacccagtccg	9	19	3	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr13:29675048C>T	ENST00000431530.3	+	3	2673	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	862	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					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						AGCGTCTCCTCAGTCTCCAGC	0.632																																																	0								ENSG00000132938						8	9	9					13																	29675048		2032	4183	6215	MTUS2	SO:0001583	missense	0			-	HGNC	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.2615C>T	13.37:g.29675048C>T	ENSP00000392057:p.Ser872Leu	Somatic	0	75	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP							NULL	p.S872L	ENST00000431530.3	37	c.2615	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121251	0.56613	.	.	ENSG00000132938	ENST00000431530	T	0.28255	1.62	5.25	5.25	0.73442	.	0.094831	0.41938	D	0.000799	T	0.47414	0.1444	L	0.59436	1.845	0.80722	D	1	D	0.63046	0.992	P	0.56865	0.808	T	0.35076	-0.9803	9	.	.	.	.	17.8374	0.88701	0.0:1.0:0.0:0.0	.	862	Q5JR59	MTUS2_HUMAN	L	872	ENSP00000392057:S872L	.	S	+	2	0	MTUS2	28573048	1.000000	0.71417	0.928000	0.36995	0.159000	0.22180	5.218000	0.65257	2.454000	0.82982	0.563000	0.77884	TCA	-	NULL		0.632	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	C	XM_166270	-		29675048	1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	SNP	0.999	T	T	29675048	C	T	29675048	3	4	175	1	0	0	0	0	1	0	0	0	9968	838	29	2	2625	2	MTUS2	13	29675048	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	20	29675048	85494830	28	12306			1	88		3	3	92	C		7.182508e-09
NALCN	259232	genome.wustl.edu	37	chr13	101717809	101717809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggagcctctccatttcGtagcacatgtgcttaaacag	9	10	1	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr13:101717809G>A	ENST00000251127.6	-	40	4632	c.4551C>T	c.(4549-4551)taC>taT	p.Y1517Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1517					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)					TCTCCATTTCGTAGCACATGT	0.582																																																	0								ENSG00000102452						175	135	149					13																	101717809		2203	4300	6503	NALCN	SO:0001819	synonymous_variant	0			-	HGNC	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.4551C>T	13.37:g.101717809G>A		Somatic	0	51	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP							pfam_Ion_trans_dom	p.Y1517	ENST00000251127.6	37	c.4551	CCDS9498.1	13																																																																																			-	NULL		0.582	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	protein_coding	OTTHUMT00000045663.2	G	NM_052867	-		101717809	-1	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	SNP	0.943	A	A	101717809	G	A	101717809	2	1	175	1	0	0	0	0	0	0	0	1	10150	1140	40	1		1	NALCN	13	101717809	Silent	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	72042761	101717809	13452069	29	12307											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113170867	113170867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatactcttaggtagtggCtcatacattctcgagtaaac	7	8	3	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr13:113170867C>T	ENST00000261965.3	-	17	2159	c.1973G>A	c.(1972-1974)aGc>aAc	p.S658N	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S658N	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	658					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TAGGTAGTGGCTCATACATTC	0.438																																																	0								ENSG00000126216						111	96	101					13																	113170867		2203	4300	6503	TUBGCP3	SO:0001583	missense	0			-	HGNC	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1973G>A	13.37:g.113170867C>T	ENSP00000261965:p.Ser658Asn	Somatic	0	42	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP							pfam_TUBGCP	p.S658N	ENST00000261965.3	37	c.1973	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919618	0.33908	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08634	3.07;3.07	5.31	5.31	0.75309	.	0.043504	0.85682	D	0.000000	T	0.08582	0.0213	L	0.31664	0.95	0.58432	D	0.999999	B;B;B	0.32467	0.372;0.055;0.205	B;B;B	0.33121	0.158;0.089;0.103	T	0.37596	-0.9699	10	0.17832	T	0.49	-19.7862	19.0482	0.93030	0.0:1.0:0.0:0.0	.	648;658;658	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	N	658	ENSP00000261965:S658N;ENSP00000364821:S658N	ENSP00000261965:S658N	S	-	2	0	TUBGCP3	112218868	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	7.132000	0.77251	2.514000	0.84764	0.460000	0.39030	AGC	-	pfam_TUBGCP		0.438	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	protein_coding	OTTHUMT00000045825.2	C	NM_006322	-		113170867	-1	no_errors	ENST00000261965	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113170867	C	T	113170867	3	4	175	1	0	0	0	0	1	0	0	0	16774	797	28	2	774	2	TUBGCP3	13	113170867	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	11453058	113170867	1999011	30	12308											
TSC2	7249	genome.wustl.edu	37	chr16	2107142	2107143	+	Frame_Shift_Del	DEL	AG	AG	-													ttggcacccacctgggccacAgcgccatctacaacatgtgc							TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr16:2107142_2107143delAG	ENST00000219476.3	+	9	1441_1442	c.811_812delAG	c.(811-813)agcfs	p.S271fs	TSC2_ENST00000350773.4_Frame_Shift_Del_p.S271fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.S271fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.S282fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.S234fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.S222fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.S271fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	271	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGGGCCACAGCGCCATCTAC	0.668			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0								ENSG00000103197																																			TSC2	SO:0001589	frameshift_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease		HGNC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.811_812delAG	16.37:g.2107142_2107143delAG	ENSP00000219476:p.Ser271fs	Somatic	0	72	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	55	35.29	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Del	DEL							pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.S271fs	ENST00000219476.3	37	c.811_812	CCDS10458.1	16																																																																																			-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.668	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	AG	NM_000548			2107143	1	no_errors	ENST00000219476	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	2107143	AG	-	2107142	7	5	175	1	0	1	0	1	0	0	0	0	16613	188	7	0	841	0	TSC2	16	2107142	Frame_Shift_Del	DEL	AG	TCGA-KD-A5QT-01A-11D-A27P-09		2107142	88247611	31	12309											
NPIP	9284	genome.wustl.edu	37	chr16	15045631	15045631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagcctcaagacaccttccGagtgtctgctcactcccctt	7	16	3	2	rs201805072	byFrequency	TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr16:15045631G>A	ENST00000328085.6	+	8	802	c.802G>A	c.(802-804)Gag>Aag	p.E268K	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	268	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											GACACCTTCCGAGTGTCTGCT	0.517																																																	0								ENSG00000183426						83	70	75					16																	15045631		1386	2350	3736	NPIPA1	SO:0001583	missense	0			-	HGNC	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.802G>A	16.37:g.15045631G>A	ENSP00000331843:p.Glu268Lys	Somatic	0	43	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	O15102	Missense_Mutation	SNP							NULL	p.E268K	ENST00000328085.6	37	c.802	CCDS10557.1	16	.	.	.	.	.	.	.	.	.	.	.	7.020	0.558597	0.13436	.	.	ENSG00000183426	ENST00000432470;ENST00000328085	T	0.51817	0.69	.	.	.	.	.	.	.	.	T	0.42720	0.1215	M	0.64997	1.995	0.09310	N	1	P	0.41265	0.744	B	0.40410	0.328	T	0.34030	-0.9845	7	0.66056	D	0.02	.	.	.	.	.	268	Q9UND3	NPIP_HUMAN	K	268	ENSP00000331843:E268K	ENSP00000331843:E268K	E	+	1	0	NPIP	14953132	0.018000	0.18449	0.031000	0.17742	0.031000	0.12232	0.112000	0.15479	0.121000	0.18284	0.123000	0.15791	GAG	-	NULL		0.517	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPIPA1	protein_coding	OTTHUMT00000207326.2	G	NM_006985	rs201805072		15045631	1	no_errors	ENST00000328085	ensembl	human	novel	74_37	missense	SNP	0.032	A	A	15045631	G	A	15045631	3	1	175	1	0	0	0	0	1	0	0	0	10586	1059	37	1	832	1	NPIP	16	15045631	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	12938489	15045631	75309122	32	12310											
KIAA0753	9851	genome.wustl.edu	37	chr17	6531919	6531920	+	Frame_Shift_Ins	INS	-	-	CT													actgcccaggtcaggaccaaINSctctacaatctgcatcttta					rs201379908	byFrequency	TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr17:6531919_6531920insCT	ENST00000361413.3	-	3	593_594	c.235_236insAG	c.(235-237)gttfs	p.V79fs	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	79						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTCAGGACCAACTCTACAATCT	0.426																																																	0								ENSG00000198920																																			KIAA0753	SO:0001589	frameshift_variant	0				HGNC		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.234_235dupAG	17.37:g.6531922_6531923dupCT	ENSP00000355250:p.Val79fs	Somatic	0	51	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Frame_Shift_Ins	INS							NULL	p.V79fs	ENST00000361413.3	37	c.236_235	CCDS42247.1	17																																																																																			-	NULL		0.426	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	protein_coding	OTTHUMT00000439769.3	-	NM_014804			6531920	-1	no_errors	ENST00000361413	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.001	CT	CT	6531920	-	CT	6531919	7	5	175	1	0	1	1	0	0	0	0	0	8193	43	2	0	2735	0	KIAA0753	17	6531919	Frame_Shift_Ins	INS	-	TCGA-KD-A5QT-01A-11D-A27P-09		6531919	74663291	33	12311											
TP53	7157	genome.wustl.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1	rs587780070		TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr17:7578395G>T	ENST00000269305.4	-	5	724	c.535C>A	c.(535-537)Cat>Aat	p.H179N	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179N|TP53_ENST00000445888.2_Missense_Mutation_p.H179N|TP53_ENST00000413465.2_Missense_Mutation_p.H179N|TP53_ENST00000420246.2_Missense_Mutation_p.H179N|TP53_ENST00000455263.2_Missense_Mutation_p.H179N	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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(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.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(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)	CAGCGCTCATGGTGGGGGCAG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	GRCh37	CM067054	TP53	M		ENSG00000141510						47	47	47					17																	7578395		2203	4300	6503	TP53	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;	-	HGNC	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.535C>A	17.37:g.7578395G>T	ENSP00000269305:p.His179Asn	Somatic	0	35	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	3	85.71	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H179N	ENST00000269305.4	37	c.535	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.129353	0.94473	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.85;-7.85;-7.85;-7.85;-7.85;-7.85;-7.85;-7.85	5.59	5.59	0.84812	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	0.99923	0.9964	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.985;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.967;0.998;0.958;1.0;0.993;0.996;0.98	D	0.96235	0.9171	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179N;ENSP00000352610:H179N;ENSP00000269305:H179N;ENSP00000398846:H179N;ENSP00000391127:H179N;ENSP00000391478:H179N;ENSP00000425104:H47N;ENSP00000423862:H86N	ENSP00000269305:H179N	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7578395	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7578395	G	T	7578395	3	4	175	1	0	0	0	0	1	0	0	0	16388	1348	47	3	763	3	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	1046476	7578395	73616815	34	12312											
GPR179	440435	genome.wustl.edu	37	chr17	36482852	36482852	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgactttgagttctgggtcCagggcacctgactggggcaa	14	10	1	3			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr17:36482852C>A	ENST00000342292.4	-	11	6620	c.6600G>T	c.(6598-6600)ctG>ctT	p.L2200L	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2200					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTTCTGGGTCCAGGGCACCTG	0.562																																																	0								ENSG00000188888						84	84	84					17																	36482852		2069	4208	6277	GPR179	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6600G>T	17.37:g.36482852C>A		Somatic	0	45	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Silent	SNP							pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.L2200	ENST00000342292.4	37	c.6600	CCDS42308.1	17																																																																																			-	NULL		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	protein_coding	OTTHUMT00000255329.2	C		-		36482852	-1	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	SNP	0.004	A	A	36482852	C	A	36482852	2	1	175	1	0	0	0	0	0	0	0	1	6676	581	21	3		3	GPR179	17	36482852	Silent	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	28904457	36482852	44712358	35	12313											
LILRB4	11006	genome.wustl.edu	37	chr19	55179128	55179128	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcagtgacgtatgccAaggtgaaacactccagacct	10	13	0	3	rs2764337	byFrequency	TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chr19:55179128A>T	ENST00000391736.1	+	13	1399	c.1084A>T	c.(1084-1086)Aag>Tag	p.K362*	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.K362*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.K361*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.K363*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	362			K -> E (in dbSNP:rs2764337). {ECO:0000269|PubMed:10941837}.|K -> T (in dbSNP:rs11574589).		immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACGTATGCCAAGGTGAAACA	0.567																																																	0								ENSG00000186818						121	124	123					19																	55179128		2197	4300	6497	LILRB4	SO:0001587	stop_gained	0			-	HGNC	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1084A>T	19.37:g.55179128A>T	ENSP00000375616:p.Lys362*	Somatic	0	127	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	50	41.76	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Nonsense_Mutation	SNP							pfam_Immunoglobulin,pfscan_Ig-like_dom	p.K362*	ENST00000391736.1	37	c.1084	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	N	9.186	1.024764	0.19433	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	.	.	.	1.55	-2.81	0.05805	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	4.7776	0.13187	0.3772:0.2441:0.3787:0.0	.	.	.	.	X	362;362;361;363;361	.	ENSP00000270452:K362X	K	+	1	0	LILRB4	59870940	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.332000	0.02670	-1.245000	0.02513	-3.071000	0.00067	AAG	-	NULL		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	protein_coding	OTTHUMT00000141127.3	A		-		55179128	1	no_errors	ENST00000270452	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	55179128	A	T	55179128	4	4	175	1	0	0	0	0	0	1	0	0	8795	131	5	5	1126	5	LILRB4	19	55179128	Nonsense_Mutation	SNP	A	TCGA-KD-A5QT-01A-11D-A27P-09		55179128	3949855	36	12314											
ALAS2	212	genome.wustl.edu	37	chrX	55051216	55051216	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacaatcttgctcttcCcatcctggagttccgacagc	7	15	3	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chrX:55051216C>G	ENST00000330807.5	-	3	376	c.239G>C	c.(238-240)gGg>gCg	p.G80A	ALAS2_ENST00000396198.3_Missense_Mutation_p.G104A|ALAS2_ENST00000335854.4_Missense_Mutation_p.G80A	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	80					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTGCTCTTCCCATCCTGGAG	0.488																																																	0								ENSG00000158578						208	132	158					X																	55051216		2203	4300	6503	ALAS2	SO:0001583	missense	0			-	HGNC		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.239G>C	X.37:g.55051216C>G	ENSP00000332369:p.Gly80Ala	Somatic	0	79	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	79	26.17	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.G80A	ENST00000330807.5	37	c.239	CCDS14366.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.370739|2.370739	0.42003|0.42003	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854|ENST00000455688	D;D;D|D	0.96685|0.90385	-4.05;-4.09;-4.05|-2.66	5.02|5.02	5.02|5.02	0.67125|0.67125	5-aminolevulinate synthase presequence (1);|.	0.169599|0.169599	0.41605|0.41605	D|N	0.000844|0.000844	D|D	0.83774|0.83774	0.5327|0.5327	N|N	0.11255|0.11255	0.115|0.115	0.25450|0.25450	N|N	0.988015|0.988015	B;B;B|.	0.22211|.	0.004;0.013;0.066|.	B;B;B|.	0.32928|.	0.012;0.02;0.155|.	T|T	0.74031|0.74031	-0.3795|-0.3795	10|7	0.14656|.	T|.	0.56|.	-11.2229|-11.2229	16.4963|16.4963	0.84246|0.84246	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	80;104;80|.	A8K6C4;Q5JZF5;P22557|.	.;.;HEM0_HUMAN|.	A|R	80;104;80|32	ENSP00000332369:G80A;ENSP00000379501:G104A;ENSP00000337131:G80A|ENSP00000407204:G32R	ENSP00000332369:G80A|.	G|G	-|-	2|1	0|0	ALAS2|ALAS2	55067941|55067941	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.411000|2.411000	0.44600|0.44600	2.237000|2.237000	0.73441|0.73441	0.600000|0.600000	0.82982|0.82982	GGG|GGA	-	pfam_5aminolev_synth_preseq		0.488	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	protein_coding	OTTHUMT00000056843.3	C	NM_000032	-		55051216	-1	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	SNP	1.000	G	G	55051216	C	G	55051216	3	3	175	1	0	0	0	0	1	0	0	0	485	623	22	4	1560	4	ALAS2	23	55051216	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09		55051216	100219344	37	12315											
RLIM	51132	genome.wustl.edu	37	chrX	73812716	73812716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattttggctcccattattaCggttaacatttatctctaaa	4	8	1	0	rs201582522		TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chrX:73812716C>A	ENST00000332687.6	-	4	652	c.434G>T	c.(433-435)cGt>cTt	p.R145L	RLIM_ENST00000349225.2_Missense_Mutation_p.R145L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	145				NR -> YS (in Ref. 2; CAC14228). {ECO:0000305}.	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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCATTATTACGGTTAACATT	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0								ENSG00000131263						171	156	161					X																	73812716		2203	4300	6503	RLIM	SO:0001583	missense	0			-	HGNC	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.434G>T	X.37:g.73812716C>A	ENSP00000328059:p.Arg145Leu	Somatic	0	76	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	39	57.61	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R145L	ENST00000332687.6	37	c.434	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251617	0.39797	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09163	3.01;3.01	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03443	-1.1036	10	0.09843	T	0.71	-0.8248	19.4644	0.94932	0.0:1.0:0.0:0.0	.	145	Q9NVW2	RNF12_HUMAN	L	145	ENSP00000328059:R145L;ENSP00000253571:R145L	ENSP00000328059:R145L	R	-	2	0	RLIM	73729441	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.761000	0.68801	2.551000	0.86045	0.600000	0.82982	CGT	-	NULL		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	protein_coding	OTTHUMT00000057268.1	C	NM_016120	-		73812716	-1	no_errors	ENST00000332687	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73812716	C	A	73812716	3	1	175	1	0	0	0	0	1	0	0	0	13398	536	19	3	1444	3	RLIM	23	73812716	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	18761500	73812716	81457844	38	12316											
XPNPEP2	7512	genome.wustl.edu	37	chrX	128894541	128894541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtccaggctcatcttTcccgctgctacatcaggtgg	10	14	3	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chrX:128894541T>G	ENST00000371106.3	+	16	1674	c.1482T>G	c.(1480-1482)ttT>ttG	p.F494L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	494						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCTCATCTTTCCCGCTGCTA	0.567																																																	0								ENSG00000122121						247	214	225					X																	128894541		2203	4300	6503	XPNPEP2	SO:0001583	missense	0			-	HGNC	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1482T>G	X.37:g.128894541T>G	ENSP00000360147:p.Phe494Leu	Somatic	0	42	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	A0AV16|O75994	Missense_Mutation	SNP							pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.F494L	ENST00000371106.3	37	c.1482	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	T	14.25	2.477919	0.44044	.	.	ENSG00000122121	ENST00000371106	T	0.76839	-1.05	5.25	0.0952	0.14484	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	M	0.88906	2.99	0.45621	D	0.998554	P	0.34639	0.461	B	0.40636	0.335	T	0.77910	-0.2411	10	0.87932	D	0	-16.4242	8.8238	0.35043	0.0:0.6738:0.0:0.3262	.	494	O43895	XPP2_HUMAN	L	494	ENSP00000360147:F494L	ENSP00000360147:F494L	F	+	3	2	XPNPEP2	128722222	1.000000	0.71417	0.963000	0.40424	0.463000	0.32649	1.092000	0.30927	-0.069000	0.12931	0.417000	0.27973	TTT	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.567	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	protein_coding	OTTHUMT00000058210.1	T	NM_003399	-		128894541	1	no_errors	ENST00000371106	ensembl	human	known	74_37	missense	SNP	0.998	G	G	128894541	T	G	128894541	3	3	175	1	0	0	0	0	1	0	0	0	17450	1780	62	5	1544	5	XPNPEP2	23	128894541	Missense_Mutation	SNP	T	TCGA-KD-A5QT-01A-11D-A27P-09	55081825	128894541	26376019	39	12317											
FAM122B	159090	genome.wustl.edu	37	chrX	133930160	133930160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcccatggattaggggagCgctgctggatctcctcaggg	16	10	2	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chrX:133930160C>A	ENST00000370790.1	-	1	1004	c.76G>T	c.(76-78)Gct>Tct	p.A26S	FAM122B_ENST00000486347.1_Missense_Mutation_p.A26S|FAM122B_ENST00000298090.6_Missense_Mutation_p.A26S|FAM122C_ENST00000414371.2_5'Flank|FAM122B_ENST00000343004.5_Missense_Mutation_p.A26S|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	26										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					ATTAGGGGAGCGCTGCTGGAT	0.567																																																	0								ENSG00000156504						90	74	79					X																	133930160		2203	4300	6503	FAM122B	SO:0001583	missense	0			-	HGNC	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.76G>T	X.37:g.133930160C>A	ENSP00000359826:p.Ala26Ser	Somatic	0	35	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP							NULL	p.A26S	ENST00000370790.1	37	c.76	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473048	0.84640	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000394270;ENST00000486347;ENST00000370787	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.72	4.72	0.59763	.	0.000000	0.56097	D	0.000027	T	0.75072	0.3800	M	0.84683	2.71	0.49582	D	0.999808	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	T	0.80011	-0.1561	10	0.72032	D	0.01	.	15.5029	0.75713	0.0:1.0:0.0:0.0	.	26;26;26;26	G1UD80;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;F122B_HUMAN;.	S	26	ENSP00000359826:A26S;ENSP00000298090:A26S;ENSP00000339207:A26S;ENSP00000419592:A26S	ENSP00000298090:A26S	A	-	1	0	FAM122B	133757826	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.430000	0.73391	2.306000	0.77630	0.600000	0.82982	GCT	-	NULL		0.567	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	protein_coding	OTTHUMT00000058382.1	C	NM_145284	-		133930160	-1	no_errors	ENST00000343004	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133930160	C	A	133930160	3	1	175	1	0	0	0	0	1	0	0	0	5422	768	27	3	841	3	FAM122B	23	133930160	Missense_Mutation	SNP	C	TCGA-KD-A5QT-01A-11D-A27P-09	5035619	133930160	21340400	40	12318											
BCAP31	10134	genome.wustl.edu	37	chrX	152981004	152981004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccccactcacaaggacaGcagcaaggaaaagccagcaa	8	15	1	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chrX:152981004G>A	ENST00000345046.6	-	4	741	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	BCAP31_ENST00000468947.1_5'Flank|BCAP31_ENST00000441714.1_Silent_p.L112L|BCAP31_ENST00000458587.2_Silent_p.L179L	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	112					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAAGGACAGCAGCAAGGAA	0.577																																																	0								ENSG00000185825						131	103	112					X																	152981004		2203	4300	6503	BCAP31	SO:0001819	synonymous_variant	0			-	HGNC	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.334C>T	X.37:g.152981004G>A		Somatic	0	100	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	59	30.23	B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP							pfam_Bap31	p.L179	ENST00000345046.6	37	c.535	CCDS14727.1	X																																																																																			-	pfam_Bap31		0.577	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	protein_coding	OTTHUMT00000061071.1	G	NM_005745	-		152981004	-1	no_errors	ENST00000458587	ensembl	human	known	74_37	silent	SNP	1.000	A	A	152981004	G	A	152981004	2	1	175	1	0	0	0	0	0	0	0	1	1347	962	34	2		2	BCAP31	23	152981004	Silent	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	19050844	152981004	2289556	41	12319											
ATP6AP1	537	genome.wustl.edu	37	chrX	153660771	153660771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcaatgccagcctccctGctctgctgctcattcgcctg	8	17	3	0			TCGA-KD-A5QT-01A-11D-A27P-09	TCGA-KD-A5QT-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b10488d2-fee5-4732-9162-299bcbdc6b5c	41bf2742-b039-42a5-a300-014f3714424a	g.chrX:153660771G>T	ENST00000369762.2	+	4	584	c.523G>T	c.(523-525)Gct>Tct	p.A175S	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	175					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					CAGCCTCCCTGCTCTGCTGCT	0.662																																																	0								ENSG00000071553						38	30	33					X																	153660771		2202	4298	6500	ATP6AP1	SO:0001583	missense	0			-	HGNC	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.523G>T	X.37:g.153660771G>T	ENSP00000358777:p.Ala175Ser	Somatic	0	43	0		0.717584598826591				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	34	43.33	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP							pfam_BIG/ATPase_V1_suS1	p.A175S	ENST00000369762.2	37	c.523	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	G	8.414	0.844947	0.16963	.	.	ENSG00000071553	ENST00000369762;ENST00000449556	.	.	.	5.84	3.97	0.46021	.	0.244492	0.48767	D	0.000172	T	0.26882	0.0658	N	0.21097	0.63	0.32765	N	0.504552	B;B	0.27951	0.078;0.195	B;B	0.30316	0.038;0.114	T	0.27262	-1.0079	9	0.07644	T	0.81	-23.2905	5.735	0.18061	0.094:0.0:0.6016:0.3043	.	135;175	B3KR70;Q15904	.;VAS1_HUMAN	S	175	.	ENSP00000358777:A175S	A	+	1	0	ATP6AP1	153313965	0.996000	0.38824	0.295000	0.24960	0.325000	0.28411	2.638000	0.46562	1.222000	0.43521	0.529000	0.55759	GCT	-	pfam_BIG/ATPase_V1_suS1		0.662	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	protein_coding	OTTHUMT00000081639.4	G	NM_001183	-		153660771	1	no_errors	ENST00000369762	ensembl	human	known	74_37	missense	SNP	0.742	T	T	153660771	G	T	153660771	3	4	175	1	0	0	0	0	1	0	0	0	1165	1319	46	3	537	3	ATP6AP1	23	153660771	Missense_Mutation	SNP	G	TCGA-KD-A5QT-01A-11D-A27P-09	679767	153660771	1609789	42	12320											
CROCC	9696	genome.wustl.edu	37	chr1	17265593	17265593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagactcctccacgctcGccctgatccactccgccctg	7	21	1	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:17265593G>A	ENST00000375541.5	+	12	1633	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T	CROCC_ENST00000467938.1_3'UTR	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)		CTCCACGCTCGCCCTGATCCA	0.751																																																	0								ENSG00000058453						6	6	6					1																	17265593		2018	3890	5908	CROCC	SO:0001583	missense	0			-	HGNC	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.1564G>A	1.37:g.17265593G>A	ENSP00000364691:p.Ala522Thr	Somatic	0	85	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66		Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_t-SNARE	p.A522T	ENST00000375541.5	37	c.1564	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229695	0.39399	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.08984	3.03	5.39	3.1	0.35709	.	.	.	.	.	T	0.03739	0.0106	N	0.04959	-0.14	0.28452	N	0.916292	B;B;B	0.25667	0.008;0.008;0.131	B;B;B	0.17722	0.003;0.003;0.019	T	0.43294	-0.9400	9	0.12430	T	0.62	.	9.2506	0.37554	0.2095:0.0:0.7905:0.0	.	385;385;522	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	T	522;403	ENSP00000364691:A522T	ENSP00000364691:A522T	A	+	1	0	CROCC	17138180	0.143000	0.22626	0.615000	0.29064	0.993000	0.82548	1.215000	0.32431	0.517000	0.28361	0.561000	0.74099	GCC	-	NULL		0.751	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	G	NM_014675	-		17265593	1	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	SNP	0.953	A	A	17265593	G	A	17265593	3	1	176	1	0	0	0	0	1	0	0	0	3895	1087	38	1	1610	1	CROCC	1	17265593	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		17265593	231985028	1	12321											
TMEM125	128218	genome.wustl.edu	37	chr1	43738733	43738733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggtggaggggccgacGccctcgtggtgctgctcagt	18	11	1	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:43738733G>A	ENST00000432792.2	+	4	910	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	TMEM125_ENST00000439858.1_Missense_Mutation_p.A114T			Q96AQ2	TM125_HUMAN	transmembrane protein 125	114						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGGCCGACGCCCTCGTGGT	0.706																																																	0								ENSG00000179178						27	28	28					1																	43738733		2203	4295	6498	TMEM125	SO:0001583	missense	0			-	HGNC	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.340G>A	1.37:g.43738733G>A	ENSP00000429275:p.Ala114Thr	Somatic	0	86	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	71	15.48	D3DPX1	Missense_Mutation	SNP							NULL	p.A114T	ENST00000432792.2	37	c.340	CCDS480.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312588	0.40895	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.43688	0.94;0.94	5.24	4.12	0.48240	.	0.646253	0.16638	N	0.205748	T	0.15132	0.0365	N	0.03608	-0.345	0.09310	N	1	B	0.29253	0.239	B	0.15870	0.014	T	0.08391	-1.0724	10	0.19147	T	0.46	.	5.404	0.16310	0.173:0.0:0.6016:0.2254	.	114	Q96AQ2	TM125_HUMAN	T	114	ENSP00000429775:A114T;ENSP00000429275:A114T	ENSP00000429275:A114T	A	+	1	0	TMEM125	43511320	0.491000	0.26019	0.833000	0.33012	0.935000	0.57460	1.612000	0.36889	2.446000	0.82766	0.455000	0.32223	GCC	-	NULL		0.706	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM125	protein_coding	OTTHUMT00000019032.2	G	NM_144626	-		43738733	1	no_errors	ENST00000432792	ensembl	human	known	74_37	missense	SNP	0.133	A	A	43738733	G	A	43738733	3	1	176	1	0	0	0	0	1	0	0	0	16044	1087	38	1	342	1	TMEM125	1	43738733	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	26473140	43738733	205511888	2	12322											
ALG6	29929	genome.wustl.edu	37	chr1	63872024	63872024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatttacatacctgcagTggttttgtactgttgttgct	10	7	0	1	rs188679061		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:63872024T>C	ENST00000371108.4	+	6	688	c.383T>C	c.(382-384)gTg>gCg	p.V128A	ALG6_ENST00000263440.4_Missense_Mutation_p.V128A	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	128					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						ATACCTGCAGTGGTTTTGTAC	0.348																																																	0								ENSG00000088035						182	164	170					1																	63872024		2203	4300	6503	ALG6	SO:0001583	missense	0			-	HGNC	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.383T>C	1.37:g.63872024T>C	ENSP00000360149:p.Val128Ala	Somatic	0	62	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	94	8.65	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP							pfam_Glyco_trans_ALG6/ALG8	p.V128A	ENST00000371108.4	37	c.383	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820448	0.90873	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.85773	-2.03;-2.03	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	L	0.57536	1.79	0.80722	D	1	B	0.29188	0.236	B	0.41135	0.348	T	0.81163	-0.1058	10	0.36615	T	0.2	-2.0698	16.2853	0.82717	0.0:0.0:0.0:1.0	.	128	A2A2G4	.	A	128	ENSP00000360149:V128A;ENSP00000263440:V128A	ENSP00000263440:V128A	V	+	2	0	ALG6	63644612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.019000	0.64060	2.236000	0.73375	0.528000	0.53228	GTG	-	pfam_Glyco_trans_ALG6/ALG8		0.348	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	protein_coding	OTTHUMT00000025330.2	T	NM_013339	rs188679061		63872024	1	no_errors	ENST00000371108	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63872024	T	C	63872024	3	2	176	1	0	0	0	0	1	0	0	0	522	1696	59	5	401	5	ALG6	1	63872024	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09	20133291	63872024	185378597	3	12323											
LHX8	431707	genome.wustl.edu	37	chr1	75609535	75609535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttttttaaatgcagggaatGggattagtgtggaaggtgcc	15	3	0	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:75609535G>T	ENST00000294638.5	+	7	1280	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	LHX8_ENST00000356261.3_Missense_Mutation_p.G196W	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	206					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGCAGGGAATGGGATTAGTGT	0.408																																																	0								ENSG00000162624						98	97	97					1																	75609535		2203	4300	6503	LHX8	SO:0001583	missense	0			-	HGNC	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.616G>T	1.37:g.75609535G>T	ENSP00000294638:p.Gly206Trp	Somatic	0	47	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	66	16.46	E9PGE3	Missense_Mutation	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.G206W	ENST00000294638.5	37	c.616	CCDS30756.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954375	0.53293	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87491	-2.26;-2.24	5.63	5.63	0.86233	.	0.203454	0.52532	D	0.000073	D	0.83087	0.5178	L	0.27053	0.805	0.58432	D	0.99999	P	0.52463	0.953	P	0.53006	0.715	D	0.85980	0.1482	10	0.87932	D	0	.	15.5162	0.75826	0.0:0.1377:0.8623:0.0	.	206	Q68G74	LHX8_HUMAN	W	206;196	ENSP00000294638:G206W;ENSP00000348597:G196W	ENSP00000294638:G206W	G	+	1	0	LHX8	75382123	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.985000	0.56930	2.805000	0.96524	0.655000	0.94253	GGG	-	NULL		0.408	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	protein_coding	OTTHUMT00000026700.1	G	NM_001001933	-		75609535	1	no_errors	ENST00000294638	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75609535	G	T	75609535	3	4	176	1	0	0	0	0	1	0	0	0	8778	1348	47	3	638	3	LHX8	1	75609535	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	11737511	75609535	173641086	4	12324											
IFI44L	10964	genome.wustl.edu	37	chr1	79102851	79102851	+	Frame_Shift_Del	DEL	A	A	-													ctctactctaaaatgttggcAaaagtgaagcaagttcacaa							TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:79102851delA	ENST00000370751.5	+	6	1190	c.1011delA	c.(1009-1011)gcafs	p.A337fs	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Frame_Shift_Del_p.A79fs	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	337					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAATGTTGGCAAAAGTGAAGC	0.338																																																	0								ENSG00000137959						116	117	116					1																	79102851		2203	4300	6503	IFI44L	SO:0001589	frameshift_variant	0				HGNC	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1011delA	1.37:g.79102851delA	ENSP00000359787:p.Ala337fs	Somatic	0	51	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	42	42.47	Q86TE1|Q96B64|Q99984	Frame_Shift_Del	DEL							superfamily_P-loop_NTPase	p.V339fs	ENST00000370751.5	37	c.1011	CCDS687.2	1																																																																																			-	superfamily_P-loop_NTPase		0.338	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	protein_coding	OTTHUMT00000026834.3	A	NM_006820			79102851	1	no_errors	ENST00000370751	ensembl	human	known	74_37	frame_shift_del	DEL	0.003	-	-	79102851	A	-	79102851	7	5	176	1	0	1	0	1	0	0	0	0	7520	117	5	0	1029	0	IFI44L	1	79102851	Frame_Shift_Del	DEL	A	TCGA-KD-A5QU-01A-11D-A27P-09	3493316	79102851	170147770	5	12325	190	2									
IFI44L	10964	genome.wustl.edu	37	chr1	79102855	79102855	+	Missense_Mutation	SNP	G	G	T													actctaaaatgttggcaaaaGtgaagcaagttcacaaagaa							TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:79102855G>T	ENST00000370751.5	+	6	1194	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.V81L	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	339					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTTGGCAAAAGTGAAGCAAGT	0.333																																																	0								ENSG00000137959						118	118	118					1																	79102855		2203	4300	6503	IFI44L	SO:0001583	missense	0			-	HGNC	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1015G>T	1.37:g.79102855G>T	ENSP00000359787:p.Val339Leu	Somatic	0	50	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	36	49.32	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.V339L	ENST00000370751.5	37	c.1015	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323031	0.01320	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.25085	3.11;1.82	4.08	-8.16	0.01061	.	0.931070	0.08952	N	0.869922	T	0.00580	0.0019	N	0.00075	-2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	10	0.02654	T	1	1.8436	2.5485	0.04742	0.1029:0.2318:0.2043:0.461	.	339	Q53G44	IF44L_HUMAN	L	339;81	ENSP00000359787:V339L;ENSP00000342833:V81L	ENSP00000342833:V81L	V	+	1	0	IFI44L	78875443	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.983000	0.01488	-2.911000	0.00308	-0.560000	0.04181	GTG	-	superfamily_P-loop_NTPase		0.333	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	protein_coding	OTTHUMT00000026834.3	G	NM_006820	-		79102855	1	no_errors	ENST00000370751	ensembl	human	known	74_37	missense	SNP	0.000	T	T	79102855	G	T	79102855	3	4	176	1	0	0	0	0	1	0	0	0	7520	1029	36	3	1033	3	IFI44L	1	79102855	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	4	79102855	170147766	6	12326	190	2									
TGFBR3	7049	genome.wustl.edu	37	chr1	92187646	92187646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcatctcttattgatTtggtcattgtcatagatctt	7	6	5	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:92187646T>G	ENST00000525962.1	-	7	1002	c.941A>C	c.(940-942)aAa>aCa	p.K314T	TGFBR3_ENST00000370399.2_Missense_Mutation_p.K314T|TGFBR3_ENST00000212355.4_Missense_Mutation_p.K314T			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	314					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTTATTGATTTGGTCATTGT	0.383																																																	0								ENSG00000069702						135	121	125					1																	92187646		2203	4300	6503	TGFBR3	SO:0001583	missense	0			-	HGNC	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.941A>C	1.37:g.92187646T>G	ENSP00000436127:p.Lys314Thr	Somatic	0	41	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.62	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP							pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.K314T	ENST00000525962.1	37	c.941	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199999	0.38905	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.22	2.81	0.32909	.	0.088881	0.85682	N	0.000000	T	0.16428	0.0395	L	0.54323	1.7	0.58432	D	0.999999	B;B;B	0.23735	0.003;0.026;0.09	B;B;B	0.25405	0.024;0.027;0.06	T	0.03739	-1.1008	10	0.45353	T	0.12	-13.786	8.1503	0.31137	0.0:0.0706:0.1347:0.7946	.	314;314;314	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	T	314	ENSP00000212355:K314T;ENSP00000359426:K314T;ENSP00000436127:K314T;ENSP00000432638:K314T	ENSP00000212355:K314T	K	-	2	0	TGFBR3	91960234	1.000000	0.71417	0.725000	0.30721	0.989000	0.77384	3.972000	0.56838	0.366000	0.24427	0.379000	0.24179	AAA	-	NULL		0.383	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	protein_coding	OTTHUMT00000382308.1	T	NM_003243	-		92187646	-1	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	SNP	0.998	G	G	92187646	T	G	92187646	3	3	176	1	0	0	0	0	1	0	0	0	15830	1841	64	5	1654	5	TGFBR3	1	92187646	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09	13084791	92187646	157062975	7	12327											
SLC44A3	126969	genome.wustl.edu	37	chr1	95290119	95290119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggctatgacagctttgGcaacatgtgtggcaagaaga	12	7	0	3	rs148935541		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:95290119G>A	ENST00000271227.6	+	3	308	c.206G>A	c.(205-207)gGc>gAc	p.G69D	SLC44A3_ENST00000446120.2_Missense_Mutation_p.G33D|SLC44A3_ENST00000467909.1_Missense_Mutation_p.G21D|SLC44A3_ENST00000527077.1_Missense_Mutation_p.G33D|SLC44A3_ENST00000532427.1_Missense_Mutation_p.G21D|SLC44A3_ENST00000529450.1_Missense_Mutation_p.G69D	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	69					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GACAGCTTTGGCAACATGTGT	0.532													G|||	1	0.000199681	0	0	5008	,	,		17106	0		0.001	False		,,,				2504	0																0								ENSG00000143036	G	ASP/GLY,ASP/GLY	2,4404	4.2+/-10.8	0,2,2201	90	97	95		206,62	5.7	1	1	dbSNP_134	95	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	SLC44A3	NM_001114106.1,NM_152369.3	94,94	0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846	probably-damaging,probably-damaging	69/654,21/606	95290119	11,12995	2203	4300	6503	SLC44A3	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.206G>A	1.37:g.95290119G>A	ENSP00000271227:p.Gly69Asp	Somatic	0	49	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP							pfam_Choline_transptr-like	p.G69D	ENST00000271227.6	37	c.206	CCDS44176.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.5	4.834858	0.91036	4.54E-4	0.001047	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000422520;ENST00000532427	D;D;T;D;T;D;T	0.81499	-1.5;-1.5;1.01;-1.5;0.61;-1.5;1.17	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000004	D	0.90734	0.7092	M	0.88842	2.985	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.91802	0.5452	10	0.87932	D	0	-16.6834	18.624	0.91331	0.0:0.0:1.0:0.0	.	21;33;33;69;69	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	D	33;69;33;69;21;21;21	ENSP00000389143:G33D;ENSP00000271227:G69D;ENSP00000433641:G33D;ENSP00000431836:G69D;ENSP00000432789:G21D;ENSP00000410832:G21D;ENSP00000436661:G21D	ENSP00000271227:G69D	G	+	2	0	SLC44A3	95062707	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.755000	0.85180	2.681000	0.91329	0.655000	0.94253	GGC	-	NULL		0.532	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	protein_coding	OTTHUMT00000029544.3	G	NM_152369	rs148935541		95290119	1	no_errors	ENST00000271227	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95290119	G	A	95290119	3	1	176	1	0	0	0	0	1	0	0	0	14645	1203	42	2	216	2	SLC44A3	1	95290119	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	3102473	95290119	153960502	8	12328											
TCHH	7062	genome.wustl.edu	37	chr1	152084230	152084235	+	In_Frame_Del	DEL	CAACGT	CAACGT	-													cctcctcctcgagcttcagcCaacgttcgcgcctctcctcc					rs72477385	byFrequency	TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	CAACGT	CAACGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:152084230_152084235delCAACGT	ENST00000368804.1	-	2	1457_1462	c.1458_1463delACGTTG	c.(1456-1464)gaacgttgg>gag	p.RW487del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	487	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R487S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTTCAGCCAACGTTCGCGCCTct	0.67																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000159450																																			TCHH	SO:0001651	inframe_deletion	0				HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1458_1463delACGTTG	1.37:g.152084230_152084235delCAACGT	ENSP00000357794:p.Arg487_Trp488del	Somatic					0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5VUI3	In_Frame_Del	DEL							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.RW487in_frame_del	ENST00000368804.1	37	c.1463_1458	CCDS41396.1	1																																																																																			-	NULL		0.67	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	CAACGT	NM_007113			152084235	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-	-	152084235	CAACGT	-	152084230	7	5	176	1	0	1	0	1	0	0	0	0	15707	595	21	0	4372	0	TCHH	1	152084230	In_Frame_Del	DEL	CAACGT	TCGA-KD-A5QU-01A-11D-A27P-09	56794111	152084230	97166391	9	12329											
NUP133	55746	genome.wustl.edu	37	chr1	229586308	229586308	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaagtccaaagctttcttGaaatcatattcattagctct	4	9	4	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:229586308G>T	ENST00000261396.3	-	23	3235	c.3144C>A	c.(3142-3144)ttC>ttA	p.F1048L	NUP133_ENST00000537506.1_Missense_Mutation_p.F1032L|NUP133_ENST00000485119.1_5'UTR	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1048					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAGCTTTCTTGAAATCATATT	0.308																																																	0								ENSG00000069248						77	80	79					1																	229586308		2200	4296	6496	NUP133	SO:0001583	missense	0			-	HGNC		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3144C>A	1.37:g.229586308G>T	ENSP00000261396:p.Phe1048Leu	Somatic	0	27	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.00	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP							pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.F1048L	ENST00000261396.3	37	c.3144	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364864	0.82463	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.44881	0.91;1.26;0.93	6.06	4.22	0.49857	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.62407	-0.6861	10	0.44086	T	0.13	-0.0784	12.7655	0.57388	0.1315:0.0:0.8685:0.0	.	1048	Q8WUM0	NU133_HUMAN	L	977;1048;977;1032	ENSP00000261396:F1048L;ENSP00000355640:F977L;ENSP00000443496:F1032L	ENSP00000261396:F1048L	F	-	3	2	NUP133	227652931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.365000	0.44196	0.911000	0.36747	0.650000	0.86243	TTC	-	pfam_Nucleoporin_Nup133/Nup155_C		0.308	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	protein_coding	OTTHUMT00000095224.1	G	NM_018230	-		229586308	-1	no_errors	ENST00000261396	ensembl	human	known	74_37	missense	SNP	1.000	T	T	229586308	G	T	229586308	3	4	176	1	0	0	0	0	1	0	0	0	10756	1281	45	3	342	3	NUP133	1	229586308	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	77502078	229586308	19664313	10	12330											
URB2	9816	genome.wustl.edu	37	chr1	229779403	229779403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gatgcagtgtattctccaggGactggatgtcagtaacatgt	12	7	2	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:229779403G>C	ENST00000258243.2	+	5	3894	c.3758G>C	c.(3757-3759)gGa>gCa	p.G1253A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1253						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTCTCCAGGGACTGGATGTC	0.517																																																	0								ENSG00000135763						180	157	165					1																	229779403		2203	4300	6503	URB2	SO:0001583	missense	0			-	HGNC	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3758G>C	1.37:g.229779403G>C	ENSP00000258243:p.Gly1253Ala	Somatic	0	84	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	88	14.56	Q5VYC9	Missense_Mutation	SNP							pfam_Urb2/Npa2_C	p.G1253A	ENST00000258243.2	37	c.3758	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885946	0.51908	.	.	ENSG00000135763	ENST00000258243	T	0.31769	1.48	5.36	5.36	0.76844	.	0.110121	0.64402	D	0.000008	T	0.45175	0.1329	L	0.34521	1.04	0.50632	D	0.999889	D	0.89917	1.0	D	0.75020	0.985	T	0.15263	-1.0443	9	.	.	.	-23.848	18.0013	0.89198	0.0:0.0:1.0:0.0	.	1253	Q14146	URB2_HUMAN	A	1253	ENSP00000258243:G1253A	.	G	+	2	0	URB2	227846026	1.000000	0.71417	0.584000	0.28653	0.424000	0.31475	4.881000	0.63114	2.666000	0.90696	0.650000	0.86243	GGA	-	NULL		0.517	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	G	NM_014777	-		229779403	1	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	SNP	0.974	C	C	229779403	G	C	229779403	3	2	176	1	0	0	0	0	1	0	0	0	17032	1174	41	4	3772	4	URB2	1	229779403	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	193095	229779403	19471218	11	12331											
OR13G1	441933	genome.wustl.edu	37	chr1	247835651	247835651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgttgagaaggccttcctCttgccttctactgtgcggat	10	11	2	1	rs61995673	byFrequency	TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr1:247835651C>T	ENST00000359688.2	-	1	714	c.693G>A	c.(691-693)aaG>aaA	p.K231K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGCCTTCCTCTTGCCTTCTA	0.448																																																	0								ENSG00000197437						147	125	132					1																	247835651		2203	4300	6503	OR13G1	SO:0001819	synonymous_variant	0			-	HGNC	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.693G>A	1.37:g.247835651C>T		Somatic	0	54	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.64	B2RN80|Q5T2T2|Q6IF86	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K231	ENST00000359688.2	37	c.693	CCDS31094.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	protein_coding	OTTHUMT00000096869.1	C	NM_001005487	-		247835651	-1	no_errors	ENST00000359688	ensembl	human	known	74_37	silent	SNP	0.000	T	T	247835651	C	T	247835651	2	4	176	1	0	0	0	0	0	0	0	1	10944	912	32	2		2	OR13G1	1	247835651	Silent	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	18056248	247835651	1414970	12	12332											
C2orf16	84226	genome.wustl.edu	37	chr2	27801965	27801965	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcacttcagagacatctAccacaaagctggagatcacg	7	12	4	2	rs375613150		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr2:27801965A>C	ENST00000408964.2	+	1	2577	c.2526A>C	c.(2524-2526)ctA>ctC	p.L842L	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	842						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGACATCTACCACAAAGCT	0.458																																																	0								ENSG00000221843						71	73	72					2																	27801965		1975	4181	6156	C2orf16	SO:0001819	synonymous_variant	0			-	HGNC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2526A>C	2.37:g.27801965A>C		Somatic	0	38	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP							NULL	p.L842	ENST00000408964.2	37	c.2526	CCDS42666.1	2																																																																																			-	NULL		0.458	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	protein_coding	OTTHUMT00000353292.1	A	NM_032266	-		27801965	1	no_errors	ENST00000408964	ensembl	human	known	74_37	silent	SNP	0.000	C	C	27801965	A	C	27801965	2	2	176	1	0	0	0	0	0	0	0	1	2159	378	14	5		5	C2orf16	2	27801965	Silent	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09		27801965	215397408	13	12333											
REV1	51455	genome.wustl.edu	37	chr2	100055179	100055179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaactcagtcaattcaCacttccacattgatatgtga	5	10	3	3			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr2:100055179C>T	ENST00000258428.3	-	6	1325	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	REV1_ENST00000393445.3_Missense_Mutation_p.C366Y|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	366					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTCAATTCACACTTCCACAT	0.383								Direct reversal of damage																																									0								ENSG00000135945						105	108	107					2																	100055179		2203	4300	6503	REV1	SO:0001583	missense	0			-	HGNC	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1097G>A	2.37:g.100055179C>T	ENSP00000258428:p.Cys366Tyr	Somatic	0	33	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.50	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP							pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.C366Y	ENST00000258428.3	37	c.1097	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156052	0.38021	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.45276	1.67;1.67;0.9	5.99	5.99	0.97316	.	0.285739	0.45361	D	0.000375	T	0.46112	0.1376	L	0.56769	1.78	0.50313	D	0.999862	P;P;P	0.46277	0.875;0.766;0.762	B;B;B	0.43082	0.407;0.174;0.327	T	0.48258	-0.9051	10	0.72032	D	0.01	.	16.6927	0.85326	0.0:0.8708:0.1292:0.0	.	345;366;366	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	Y	366;366;4	ENSP00000377091:C366Y;ENSP00000258428:C366Y;ENSP00000414875:C4Y	ENSP00000258428:C366Y	C	-	2	0	REV1	99421611	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.818000	0.48041	2.840000	0.97914	0.655000	0.94253	TGT	-	pirsf_REV1		0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	protein_coding	OTTHUMT00000253123.2	C	NM_016316	-		100055179	-1	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100055179	C	T	100055179	3	4	176	1	0	0	0	0	1	0	0	0	13247	478	17	2	2730	2	REV1	2	100055179	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	72253214	100055179	143144194	14	12334											
SLC9A4	389015	genome.wustl.edu	37	chr2	103148832	103148832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatccatcacgttcagCgcatgctctcggatagggtc	9	15	3	0	rs369230553	byFrequency	TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr2:103148832C>T	ENST00000295269.4	+	12	2539	c.2082C>T	c.(2080-2082)agC>agT	p.S694S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	694					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCACGTTCAGCGCATGCTCTC	0.453													c|||	2	0.000399361	8e-04	0	5008	,	,		23527	0		0	False		,,,				2504	0.001																0								ENSG00000180251	T		0,4406		0,0,2203	101	100	100		2082	-5.5	0	2		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A4	NM_001011552.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		694/799	103148832	1,13005	2203	4300	6503	SLC9A4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2082C>T	2.37:g.103148832C>T		Somatic	0	79	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	56	18.84	Q69YK0	Silent	SNP							pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.S694	ENST00000295269.4	37	c.2082	CCDS33264.1	2																																																																																			-	NULL		0.453	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	protein_coding	OTTHUMT00000329498.1	C	NM_001011552.3	-		103148832	1	no_errors	ENST00000295269	ensembl	human	known	74_37	silent	SNP	0.001	T	T	103148832	C	T	103148832	2	4	176	1	0	0	0	0	0	0	0	1	14724	767	27	1		1	SLC9A4	2	103148832	Silent	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	3093653	103148832	140050541	15	12335											
CACNB4	785	genome.wustl.edu	37	chr2	152727108	152727108	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgacggtacaacatcgtaAggaggaatgtgctccgtctg	12	8	1	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr2:152727108A>C	ENST00000539935.1	-	8	703	c.636T>G	c.(634-636)ccT>ccG	p.P212P	CACNB4_ENST00000201943.5_Silent_p.P212P|CACNB4_ENST00000360283.6_Silent_p.P179P|CACNB4_ENST00000427385.1_Silent_p.P194P|CACNB4_ENST00000397327.2_Silent_p.P165P|CACNB4_ENST00000534999.1_Silent_p.P178P	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	212					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CAACATCGTAAGGAGGAATGT	0.463																																																	0								ENSG00000182389						85	85	85					2																	152727108		2127	4235	6362	CACNB4	SO:0001819	synonymous_variant	0			-	HGNC	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.636T>G	2.37:g.152727108A>C		Somatic	0	20	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP							pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu	p.P212	ENST00000539935.1	37	c.636	CCDS46426.1	2																																																																																			-	superfamily_SH3_domain,prints_VDCC_L_bsu		0.463	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	protein_coding	OTTHUMT00000338385.4	A	NM_000726.3	-		152727108	-1	no_errors	ENST00000539935	ensembl	human	known	74_37	silent	SNP	0.985	C	C	152727108	A	C	152727108	2	2	176	1	0	0	0	0	0	0	0	1	2557	59	3	5		5	CACNB4	2	152727108	Silent	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	49578276	152727108	90472265	16	12336											
CHRNG	1146	genome.wustl.edu	37	chr2	233408075	233408075	+	Frame_Shift_Del	DEL	C	C	-													caagaaggtgcctgaaacctCccaggcggtgccactcatca							TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr2:233408075delC	ENST00000389494.3	+	8	917	c.896delC	c.(895-897)tccfs	p.S299fs	CHRNG_ENST00000389492.3_Frame_Shift_Del_p.S247fs	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	299					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTGAAACCTCCCAGGCGGTG	0.582																																																	0								ENSG00000196811						101	94	97					2																	233408075		2203	4300	6503	CHRNG	SO:0001589	frameshift_variant	0				HGNC	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.896delC	2.37:g.233408075delC	ENSP00000374145:p.Ser299fs	Somatic	0	90	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	B3KWM8|Q14DU4|Q53RG2	Frame_Shift_Del	DEL							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.Q300fs	ENST00000389494.3	37	c.896	CCDS33400.1	2																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	protein_coding	OTTHUMT00000330743.1	C	NM_005199			233408075	1	no_errors	ENST00000389494	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	233408075	C	-	233408075	7	5	176	1	0	1	0	1	0	0	0	0	3398	855	30	0	926	0	CHRNG	2	233408075	Frame_Shift_Del	DEL	C	TCGA-KD-A5QU-01A-11D-A27P-09	80680967	233408075	9791298	17	12337											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55108235	55108254	+	3'UTR	DEL	ACTGACTGAGATGTTCTCTT	ACTGACTGAGATGTTCTCTT	-													gatgctcttctcaaggtgacActgactgagatgttctctta					rs71948046	byFrequency	TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	ACTGACTGAGATGTTCTCTT	ACTGACTGAGATGTTCTCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:55108235_55108254delACTGACTGAGATGTTCTCTT	ENST00000474759.1	+	0	3326_3345				CACNA2D3_ENST00000288197.5_3'UTR|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_3'UTR|CACNA2D3_ENST00000415676.2_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							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)	TCAAGGTGACACTGACTGAGATGTTCTCTTACTGACTGAG	0.473														668	0.133387	0.1884	0.121	5008	,	,		22755	0.0139		0.2207	False		,,,				2504	0.1012																0								ENSG00000157445			448,3498		60,328,1585						5.5	1		dbSNP_130	149	1311,6685		189,933,2876	no	utr-3	CACNA2D3	NM_018398.2		249,1261,4461	A1A1,A1R,RR		16.3957,11.3533,14.7295				1759,10183				CACNA2D3	SO:0001624	3_prime_UTR_variant	0				HGNC	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.*21ACTGACTGAGATGTTCTCTT>-	3.37:g.55108235_55108254delACTGACTGAGATGTTCTCTT		Somatic					0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RPL6|Q9NY16|Q9NY18	RNA	DEL							-	NULL	ENST00000474759.1	37	NULL	CCDS54598.1	3																																																																																			-	-		0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	ACTGACTGAGATGTTCTCTT				55108254	1	no_errors	ENST00000478261	ensembl	human	known	74_37	rna	DEL	0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.995:0.995:0.995:0.996:0.996:0.997:0.997:0.998	-	-	55108254	ACTGACTGAGATGTTCTCTT	-	55108235	6	5	176	0	1	1	0	1	0	0	0	0	2552	174	6	0		0	CACNA2D3	3	55108235	3'UTR	DEL	ACTGACTGAGATGTTCTCTT	TCGA-KD-A5QU-01A-11D-A27P-09		55108235	142914195	18	12338											
SYNPR	132204	genome.wustl.edu	37	chr3	63600972	63600972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagaccggctggcatTcttcgggacagagatatctt	12	9	3	2	rs34826607		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:63600972T>C	ENST00000295894.5	+	5	982	c.613T>C	c.(613-615)Tct>Cct	p.S205P	SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.S141P|SYNPR_ENST00000478300.1_Missense_Mutation_p.S225P|SYNPR_ENST00000460711.1_Missense_Mutation_p.S216P	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	205						cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CGGCTGGCATTCTTCGGGACA	0.438																																					NSCLC(29;1052 1116 20025 32519)												0								ENSG00000163630						50	47	48					3																	63600972		1869	4113	5982	SYNPR	SO:0001583	missense	0			-	HGNC	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.613T>C	3.37:g.63600972T>C	ENSP00000295894:p.Ser205Pro	Somatic	0	51	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.45	B2R675|G5E9W4	Missense_Mutation	SNP							pfam_Marvel,prints_Synaptophysin/porin	p.S225P	ENST00000295894.5	37	c.673	CCDS46860.1	3	.	.	.	.	.	.	.	.	.	.	T	11.77	1.739143	0.30774	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000460711;ENST00000465156	T;T;T;T	0.30182	1.86;1.86;1.85;1.54	5.35	5.35	0.76521	.	0.400339	0.23953	N	0.042928	T	0.31888	0.0811	L	0.54323	1.7	0.42799	D	0.993923	P;B;P	0.40476	0.596;0.442;0.718	B;B;B	0.41036	0.188;0.102;0.346	T	0.12451	-1.0547	10	0.52906	T	0.07	-24.6664	10.6818	0.45819	0.0:0.0:0.16:0.84	.	216;205;225	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	P	225;205;216;141	ENSP00000418994:S225P;ENSP00000295894:S205P;ENSP00000418701:S216P;ENSP00000418123:S141P	ENSP00000295894:S205P	S	+	1	0	SYNPR	63576012	1.000000	0.71417	0.991000	0.47740	0.516000	0.34256	3.266000	0.51569	2.027000	0.59764	0.460000	0.39030	TCT	-	NULL		0.438	SYNPR-004	KNOWN	basic|CCDS	protein_coding	SYNPR	protein_coding	OTTHUMT00000351787.1	T		-		63600972	1	no_errors	ENST00000478300	ensembl	human	known	74_37	missense	SNP	0.994	C	C	63600972	T	C	63600972	3	2	176	1	0	0	0	0	1	0	0	0	15466	1783	62	5	723	5	SYNPR	3	63600972	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09	8492737	63600972	134421458	19	12339											
GTPBP8	29083	genome.wustl.edu	37	chr3	112714066	112714066	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttatggctttagagcacctGaagattttgttgacatggta	11	5	0	4			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:112714066G>C	ENST00000383678.2	+	3	602	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	GTPBP8_ENST00000383677.3_Missense_Mutation_p.E141Q|GTPBP8_ENST00000467752.1_Missense_Mutation_p.E63Q|GTPBP8_ENST00000473129.1_Missense_Mutation_p.E24Q	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	174	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						TAGAGCACCTGAAGATTTTGT	0.333																																																	0								ENSG00000163607						73	78	76					3																	112714066		2203	4299	6502	GTPBP8	SO:0001583	missense	0			-	HGNC	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.520G>C	3.37:g.112714066G>C	ENSP00000373176:p.Glu174Gln	Somatic	0	46	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP							pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E174Q	ENST00000383678.2	37	c.520	CCDS33820.1	3	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134888	0.37728	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485;ENST00000467752;ENST00000473129	T;T;T;T	0.71817	2.27;2.58;2.27;-0.6	5.81	2.64	0.31445	GTP-binding domain, HSR1-related (1);	0.268450	0.42172	D	0.000751	T	0.54565	0.1866	L	0.32530	0.975	0.33411	D	0.578683	P;B	0.35401	0.499;0.238	B;B	0.31191	0.112;0.125	T	0.63769	-0.6562	10	0.45353	T	0.12	-21.274	9.8602	0.41109	0.305:0.0:0.695:0.0	.	141;174	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	Q	174;141;197;63;24	ENSP00000373176:E174Q;ENSP00000373175:E141Q;ENSP00000417632:E63Q;ENSP00000418514:E24Q	ENSP00000303802:E197Q	E	+	1	0	GTPBP8	114196756	0.398000	0.25279	1.000000	0.80357	0.970000	0.65996	0.832000	0.27490	0.814000	0.34374	-0.150000	0.13652	GAA	-	pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_GTP-bd_ribosome_bio_YsxC		0.333	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	protein_coding	OTTHUMT00000354260.2	G	NM_014170	-		112714066	1	no_errors	ENST00000383678	ensembl	human	known	74_37	missense	SNP	0.978	C	C	112714066	G	C	112714066	3	2	176	1	0	0	0	0	1	0	0	0	6886	1291	45	4	530	4	GTPBP8	3	112714066	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	49113094	112714066	85308364	20	12340											
UMPS	7372	genome.wustl.edu	37	chr3	124456888	124456888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatctgctgatgtttcaCtggccagagagctgttgcag	12	9	3	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:124456888C>T	ENST00000232607.2	+	3	890	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000413078.2_Silent_p.L84L|UMPS_ENST00000538242.1_Silent_p.L84L|UMPS_ENST00000536109.1_Silent_p.L170L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	262	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	TGATGTTTCACTGGCCAGAGA	0.463																																																	0								ENSG00000114491						140	126	131					3																	124456888		2203	4300	6503	UMPS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.784C>T	3.37:g.124456888C>T		Somatic	0	32	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP							pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom	p.L262	ENST00000232607.2	37	c.784	CCDS3029.1	3																																																																																			-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase		0.463	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	protein_coding	OTTHUMT00000355271.1	C	NM_000373	-		124456888	1	no_errors	ENST00000232607	ensembl	human	known	74_37	silent	SNP	0.051	T	T	124456888	C	T	124456888	2	4	176	1	0	0	0	0	0	0	0	1	16988	564	20	2		2	UMPS	3	124456888	Silent	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	11742822	124456888	73565542	21	12341											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125836884	125836884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacctctgtggagcctGtgaacccgattttcctcaca	8	15	2	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:125836884G>T	ENST00000393434.2	-	17	2295	c.1946C>A	c.(1945-1947)aCa>aAa	p.T649K	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.T659K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.T649K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.T548K|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	649	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGTGGAGCCTGTGAACCCGAT	0.637																																																	0								ENSG00000144908						80	73	76					3																	125836884		2203	4300	6503	ALDH1L1	SO:0001583	missense	0			-	HGNC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1946C>A	3.37:g.125836884G>T	ENSP00000377083:p.Thr649Lys	Somatic	0	85	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	73	20.65	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.T649K	ENST00000393434.2	37	c.1946	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735610	0.69189	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.38	4.38	0.52667	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	H	0.99887	4.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.97314	0.9939	10	0.87932	D	0	.	14.4536	0.67401	0.0:0.0:1.0:0.0	.	548;649	E9PBX3;O75891	.;AL1L1_HUMAN	K	659;649;548;649	ENSP00000273450:T659K;ENSP00000420293:T649K;ENSP00000395881:T548K;ENSP00000377083:T649K	ENSP00000273450:T659K	T	-	2	0	ALDH1L1	127319574	1.000000	0.71417	0.971000	0.41717	0.425000	0.31504	8.487000	0.90454	2.286000	0.76751	0.313000	0.20887	ACA	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH		0.637	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	protein_coding	OTTHUMT00000354391.1	G	NM_012190	-		125836884	-1	no_errors	ENST00000393434	ensembl	human	known	74_37	missense	SNP	0.999	T	T	125836884	G	T	125836884	3	4	176	1	0	0	0	0	1	0	0	0	494	1377	48	3	790	3	ALDH1L1	3	125836884	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	1379996	125836884	72185546	22	12342											
UROC1	131669	genome.wustl.edu	37	chr3	126219578	126219578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagcagggttggaggCcatgaggctctgggcctccg	16	11	1	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:126219578C>A	ENST00000290868.2	-	11	1158	c.1105G>T	c.(1105-1107)Gcc>Tcc	p.A369S	UROC1_ENST00000383579.3_Missense_Mutation_p.A429S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	369					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGGTTGGAGGCCATGAGGCTC	0.597																																																	0								ENSG00000159650						147	138	141					3																	126219578		2203	4300	6503	UROC1	SO:0001583	missense	0			-	HGNC	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1105G>T	3.37:g.126219578C>A	ENSP00000290868:p.Ala369Ser	Somatic	0	66	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP							pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.A369S	ENST00000290868.2	37	c.1105	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	c	9.568	1.120191	0.20877	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.42131	0.98;0.98	4.47	3.56	0.40772	Urocanase domain (2);	0.759389	0.12860	N	0.433184	T	0.33265	0.0857	L	0.39147	1.195	0.30362	N	0.783734	B;B	0.10296	0.003;0.001	B;B	0.15870	0.014;0.003	T	0.26780	-1.0093	10	0.30078	T	0.28	-1.7373	9.3805	0.38311	0.2231:0.7769:0.0:0.0	.	429;369	E9PE13;Q96N76	.;HUTU_HUMAN	S	369;429	ENSP00000290868:A369S;ENSP00000373073:A429S	ENSP00000290868:A369S	A	-	1	0	UROC1	127702268	1.000000	0.71417	0.995000	0.50966	0.418000	0.31294	0.888000	0.28268	0.816000	0.34421	0.486000	0.48141	GCC	-	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	protein_coding	OTTHUMT00000370325.2	C	NM_144639	-		126219578	-1	no_errors	ENST00000290868	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126219578	C	A	126219578	3	1	176	1	0	0	0	0	1	0	0	0	17035	739	26	3	965	3	UROC1	3	126219578	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	382694	126219578	71802852	23	12343											
TOPBP1	11073	genome.wustl.edu	37	chr3	133342943	133342943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtactcctctttcttttaCagatttatactcccgattag	5	10	2	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:133342943C>T	ENST00000260810.5	-	17	3012	c.2881G>A	c.(2881-2883)Gta>Ata	p.V961I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	961	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTTCTTTTACAGATTTATAC	0.378								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0								ENSG00000163781						124	119	121					3																	133342943		1849	4079	5928	TOPBP1	SO:0001583	missense	0			-	HGNC	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2881G>A	3.37:g.133342943C>T	ENSP00000260810:p.Val961Ile	Somatic	0	11	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	37.14	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.V961I	ENST00000260810.5	37	c.2881	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825388	0.50739	.	.	ENSG00000163781	ENST00000260810	T	0.43688	0.94	5.61	1.81	0.25067	BRCT (4);	0.284322	0.38605	N	0.001625	T	0.35248	0.0925	L	0.49455	1.56	0.37608	D	0.92084	B	0.17667	0.023	B	0.23574	0.047	T	0.22277	-1.0221	10	0.30854	T	0.27	.	10.6176	0.45460	0.0:0.742:0.0:0.258	.	961	Q92547	TOPB1_HUMAN	I	961	ENSP00000260810:V961I	ENSP00000260810:V961I	V	-	1	0	TOPBP1	134825633	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	3.632000	0.54287	0.323000	0.23307	0.585000	0.79938	GTA	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.378	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	protein_coding	OTTHUMT00000357254.1	C	NM_007027	-		133342943	-1	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133342943	C	T	133342943	3	4	176	1	0	0	0	0	1	0	0	0	16376	478	17	2	1735	2	TOPBP1	3	133342943	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	7123365	133342943	64679487	24	12344											
MFI2	4241	genome.wustl.edu	37	chr3	196751255	196751255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgttccagcccactgtgcGattgatgcccgtgtggcagg	13	13	0	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr3:196751255G>A	ENST00000296350.5	-	4	519	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	MFI2_ENST00000296351.4_Missense_Mutation_p.R136C	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	136	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCCACTGTGCGATTGATGCCC	0.622																																																	0								ENSG00000163975						82	76	78					3																	196751255		2203	4300	6503	MFI2	SO:0001583	missense	0			-	HGNC		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.406C>T	3.37:g.196751255G>A	ENSP00000296350:p.Arg136Cys	Somatic	0	55	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.08	Q9BQE2	Missense_Mutation	SNP							pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.R136C	ENST00000296350.5	37	c.406	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653019	0.67472	.	.	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.42131	0.98;0.98;0.98	5.23	2.31	0.28768	.	0.061204	0.64402	D	0.000005	T	0.71239	0.3316	M	0.93150	3.385	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.984	T	0.78018	-0.2368	10	0.87932	D	0	-27.6872	14.1975	0.65682	0.0:0.0:0.3214:0.6786	.	136;136;136	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	C	136	ENSP00000296350:R136C;ENSP00000296351:R136C;ENSP00000393439:R136C	ENSP00000296350:R136C	R	-	1	0	MFI2	198235652	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	1.282000	0.33226	0.142000	0.18901	0.655000	0.94253	CGC	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	protein_coding	OTTHUMT00000340458.1	G		-		196751255	-1	no_errors	ENST00000296350	ensembl	human	known	74_37	missense	SNP	1.000	A	A	196751255	G	A	196751255	3	1	176	1	0	0	0	0	1	0	0	0	9524	1058	37	1	2063	1	MFI2	3	196751255	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	63408312	196751255	1271175	25	12345											
HELQ	113510	genome.wustl.edu	37	chr4	84350703	84350703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcacgtcccaactttGtaatatgaaaattatattgg	7	6	0	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr4:84350703G>A	ENST00000295488.3	-	12	2654	c.2492C>T	c.(2491-2493)aCa>aTa	p.T831I	HELQ_ENST00000510985.1_Missense_Mutation_p.T764I	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	831					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TCCCAACTTTGTAATATGAAA	0.294								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000163312						71	75	74					4																	84350703		2202	4297	6499	HELQ	SO:0001583	missense	0			-	HGNC	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2492C>T	4.37:g.84350703G>A	ENSP00000295488:p.Thr831Ile	Somatic	0	54	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	40.00	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T831I	ENST00000295488.3	37	c.2492	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085163	0.76642	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.63744	-0.06;-0.06	5.51	5.51	0.81932	.	0.051832	0.85682	D	0.000000	T	0.82121	0.4968	M	0.86268	2.805	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.98	D	0.84702	0.0729	10	0.87932	D	0	-7.6323	19.4095	0.94665	0.0:0.0:1.0:0.0	.	764;831	E3W980;Q8TDG4	.;HELQ_HUMAN	I	831;764	ENSP00000295488:T831I;ENSP00000424539:T764I	ENSP00000295488:T831I	T	-	2	0	HELQ	84569727	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.052000	0.76634	2.600000	0.87896	0.467000	0.42956	ACA	-	NULL		0.294	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	protein_coding	OTTHUMT00000252810.1	G	NM_133636	-		84350703	-1	no_errors	ENST00000295488	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84350703	G	A	84350703	3	1	176	1	0	0	0	0	1	0	0	0	7049	1377	48	2	841	2	HELQ	4	84350703	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		84350703	106803573	26	12346											
ADH7	131	genome.wustl.edu	37	chr4	100341929	100341929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccaggccaaagacgaCgcaagtggaaccaggtttga	11	12	0	2	rs376821544		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr4:100341929C>T	ENST00000209665.4	-	6	862	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	ADH7_ENST00000482593.1_Missense_Mutation_p.V139I|ADH7_ENST00000476959.1_Missense_Mutation_p.V216I|ADH7_ENST00000437033.2_Missense_Mutation_p.V196I	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	208					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CCAAAGACGACGCAAGTGGAA	0.468																																																	0								ENSG00000196344	C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	77	67	70		646,622	0.1	0	4		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH7	NM_001166504.1,NM_000673.4	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	216/395,208/387	100341929	2,13004	2203	4300	6503	ADH7	SO:0001583	missense	0			-	HGNC	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.622G>A	4.37:g.100341929C>T	ENSP00000209665:p.Val208Ile	Somatic	0	25	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.V208I	ENST00000209665.4	37	c.622	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183377	0.38511	2.27E-4	1.16E-4	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.8	0.117	0.14652	GroES-like (1);NAD(P)-binding domain (1);	0.328672	0.30969	N	0.008503	T	0.26011	0.0634	M	0.80332	2.49	0.23519	N	0.997506	B	0.30542	0.284	B	0.21917	0.037	T	0.18903	-1.0322	10	0.87932	D	0	-10.9301	8.2206	0.31539	0.0:0.6626:0.0:0.3374	.	208	P40394	ADH7_HUMAN	I	196;208;139;216	ENSP00000414254:V196I;ENSP00000209665:V208I;ENSP00000420613:V139I;ENSP00000420269:V216I	ENSP00000209665:V208I	V	-	1	0	ADH7	100560952	1.000000	0.71417	0.000000	0.03702	0.757000	0.42996	4.110000	0.57831	-0.248000	0.09583	-0.219000	0.12488	GTC	-	superfamily_GroES-like		0.468	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	protein_coding		C	NM_000673	-		100341929	-1	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	SNP	0.920	T	T	100341929	C	T	100341929	3	4	176	1	0	0	0	0	1	0	0	0	313	536	19	1	554	1	ADH7	4	100341929	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	15991226	100341929	90812347	27	12347											
DNAH5	1767	genome.wustl.edu	37	chr5	13766211	13766211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaacagcagcagtacGcaatccatgatccgcatgat	8	11	0	3			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk. {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)					GCAGCAGTACGCAATCCATGA	0.517									Kartagener syndrome																																								0								ENSG00000039139						113	109	110					5																	13766211		2203	4300	6503	DNAH5	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.9975C>T	5.37:g.13766211G>A		Somatic	0	42	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C3325	ENST00000265104.4	37	c.9975	CCDS3882.1	5																																																																																			-	NULL		0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13766211	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	SNP	0.693	A	A	13766211	G	A	13766211	2	1	176	1	0	0	0	0	0	0	0	1	4606	1079	38	1		1	DNAH5	5	13766211	Silent	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		13766211	167149049	28	12348											
PPAP2A	8611	genome.wustl.edu	37	chr5	54721120	54721125	+	In_Frame_Del	DEL	TAAAAG	TAAAAG	-													gtcctcctcttttctttcttTaaaagaagttctttctttga					rs370639768		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	TAAAAG	TAAAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr5:54721120_54721125delTAAAAG	ENST00000307259.8	-	6	1184_1189	c.764_769delCTTTTA	c.(763-771)tcttttaaa>taa	p.255_257SFK>*	PPAP2A_ENST00000264775.5_In_Frame_Del_p.256_258SFK>*|SKIV2L2_ENST00000230640.5_3'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	255					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)				TTTCTTTCTTTAAAAGAAGTTCTTTC	0.369																																																	0								ENSG00000067113																																			PPAP2A	SO:0001651	inframe_deletion	0				HGNC	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.764_769delCTTTTA	5.37:g.54721120_54721125delTAAAAG	ENSP00000302229:p.Ser255_Lys257delins*	Somatic					0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	In_Frame_Del	DEL							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.SFKERK256in_frame_del*	ENST00000307259.8	37	c.772_767	CCDS34159.1	5																																																																																			-	superfamily_P_Acid_Pase_2/haloperoxidase		0.369	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2A	protein_coding	OTTHUMT00000368073.1	TAAAAG				54721125	-1	no_errors	ENST00000264775	ensembl	human	known	74_37	in_frame_del	DEL	1.000:0.996:0.992:0.978:0.060:0.072	-	-	54721125	TAAAAG	-	54721120	7	5	176	1	0	1	0	1	0	0	0	0	12292	1763	61	0	89	0	PPAP2A	5	54721120	In_Frame_Del	DEL	TAAAAG	TCGA-KD-A5QU-01A-11D-A27P-09	40954909	54721120	126194140	29	12349											
BRD8	10902	genome.wustl.edu	37	chr5	137476530	137476530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccatggtgcgaatccgaCccttagagagatttctcttc	11	11	1	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr5:137476530C>A	ENST00000254900.5	-	26	3850	c.3479G>T	c.(3478-3480)gGt>gTt	p.G1160V	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1160	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCGAATCCGACCCTTAGAGAG	0.428																																																	0								ENSG00000112983						265	259	261					5																	137476530		2203	4300	6503	BRD8	SO:0001583	missense	0			-	HGNC	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3479G>T	5.37:g.137476530C>A	ENSP00000254900:p.Gly1160Val	Somatic	0	21	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G1160V	ENST00000254900.5	37	c.3479	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829212	0.90955	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.35421	1.31;1.31	5.84	5.84	0.93424	Bromodomain (5);	0.000000	0.48767	D	0.000161	T	0.70945	0.3282	M	0.92507	3.315	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77566	-0.2540	10	0.87932	D	0	-10.2484	19.1394	0.93441	0.0:1.0:0.0:0.0	.	1160	Q9H0E9	BRD8_HUMAN	V	1160;266	ENSP00000254900:G1160V;ENSP00000392646:G266V	ENSP00000254900:G1160V	G	-	2	0	BRD8	137504429	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.798000	0.85924	2.771000	0.95319	0.655000	0.94253	GGT	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	protein_coding	OTTHUMT00000251282.3	C	NM_006696	-		137476530	-1	no_errors	ENST00000254900	ensembl	human	known	74_37	missense	SNP	1.000	A	A	137476530	C	A	137476530	3	1	176	1	0	0	0	0	1	0	0	0	1508	507	18	3	236	3	BRD8	5	137476530	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	82755410	137476530	43438730	30	12350											
FCHSD1	89848	genome.wustl.edu	37	chr5	141025697	141025697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacttcctgtaacctctgtTctatgcttggagcctcccgc	8	15	2	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr5:141025697T>C	ENST00000435817.2	-	12	1156	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	FCHSD1_ENST00000522126.1_Missense_Mutation_p.E293G|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Intron	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	369									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)			TAACCTCTGTTCTATGCTTGG	0.602																																																	0								ENSG00000197948						56	53	54					5																	141025697		2040	4180	6220	FCHSD1	SO:0001583	missense	0			-	HGNC	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.1106A>G	5.37:g.141025697T>C	ENSP00000399259:p.Glu369Gly	Somatic	0	58	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.E369G	ENST00000435817.2	37	c.1106	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291709	0.80914	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000518499	T;T	0.58210	1.08;0.35	5.6	5.6	0.85130	.	0.056722	0.64402	D	0.000003	T	0.71375	0.3332	M	0.69823	2.125	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72625	0.978;0.954	T	0.75079	-0.3444	10	0.87932	D	0	-19.3993	15.4331	0.75121	0.0:0.0:0.0:1.0	.	49;369	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	G	369;293;52	ENSP00000399259:E369G;ENSP00000427796:E293G	ENSP00000399259:E369G	E	-	2	0	FCHSD1	141005881	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	5.635000	0.67841	2.130000	0.65690	0.374000	0.22700	GAA	-	NULL		0.602	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	protein_coding	OTTHUMT00000375282.2	T	NM_033449	-		141025697	-1	no_errors	ENST00000435817	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141025697	T	C	141025697	3	2	176	1	0	0	0	0	1	0	0	0	5791	1783	62	5	1002	5	FCHSD1	5	141025697	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09	3549167	141025697	39889563	31	12351											
PPP1R10	5514	genome.wustl.edu	37	chr6	30571953	30571953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcatggctcagacgccgcGctgtctcaaatgcatgtcgg	11	12	3	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr6:30571953G>A	ENST00000376511.2	-	14	1892	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	447	Essential for PPP1CA inhibition. {ECO:0000250}.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGACGCCGCGCTGTCTCAAA	0.552																																																	0								ENSG00000204569						95	98	97					6																	30571953		2203	4300	6503	PPP1R10	SO:0001583	missense	0			-	HGNC	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1340C>T	6.37:g.30571953G>A	ENSP00000365694:p.Ala447Val	Somatic	0	46	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	O00405	Missense_Mutation	SNP							pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.A447V	ENST00000376511.2	37	c.1340	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168021	0.78339	.	.	ENSG00000204569	ENST00000376511	T	0.54279	0.58	4.82	4.82	0.62117	.	0.052489	0.85682	D	0.000000	T	0.59649	0.2209	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.58331	0.837	T	0.64795	-0.6323	10	0.87932	D	0	-16.4598	16.8491	0.85989	0.0:0.0:1.0:0.0	.	447	Q96QC0	PP1RA_HUMAN	V	447	ENSP00000365694:A447V	ENSP00000365694:A447V	A	-	2	0	PPP1R10	30679932	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.685000	0.91246	2.498000	0.84270	0.467000	0.42956	GCG	-	NULL		0.552	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	protein_coding	OTTHUMT00000076556.2	G	NM_002714	-		30571953	-1	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30571953	G	A	30571953	3	1	176	1	0	0	0	0	1	0	0	0	12357	1087	38	1	1510	1	PPP1R10	6	30571953	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		30571953	140543114	32	12352											
HLA-DOA	3111	genome.wustl.edu	37	chr6	32975312	32975312	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacgatgcagatgaggAtgttgggctggcccagctcc	14	11	0	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr6:32975312A>T	ENST00000229829.5	-	3	464	c.389T>A	c.(388-390)aTc>aAc	p.I130N	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Missense_Mutation_p.I100N	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	130	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCAGATGAGGATGTTGGGCTG	0.612																																																	0								ENSG00000204252						140	139	140					6																	32975312		1510	2709	4219	HLA-DOA	SO:0001583	missense	0			-	HGNC	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.389T>A	6.37:g.32975312A>T	ENSP00000229829:p.Ile130Asn	Somatic	0	46	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP							pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.I130N	ENST00000229829.5	37	c.389	CCDS4763.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.54|13.54	2.268196|2.268196	0.40095|0.40095	.|.	.|.	ENSG00000204252|ENSG00000204252	ENST00000374813|ENST00000229829;ENST00000450833	.|T;T	.|0.03004	.|6.25;4.08	4.64|4.64	3.47|3.47	0.39725|0.39725	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|0.632399	.|0.16024	.|N	.|0.233184	T|T	0.03053|0.03053	0.0090|0.0090	M|M	0.62154|0.62154	1.92|1.92	0.09310|0.09310	N|N	1|1	.|P;P	.|0.39480	.|0.491;0.675	.|B;P	.|0.46299	.|0.305;0.511	T|T	0.34329|0.34329	-0.9833|-0.9833	6|10	0.87932|0.87932	D|D	0|0	.|.	7.5162|7.5162	0.27602|0.27602	0.8889:0.0:0.1111:0.0|0.8889:0.0:0.1111:0.0	.|.	.|100;130	.|B4DW77;P06340	.|.;DOA_HUMAN	Q|N	74|130;100	.|ENSP00000229829:I130N;ENSP00000403896:I100N	ENSP00000363946:H74Q|ENSP00000229829:I130N	H|I	-|-	3|2	2|0	HLA-DOA|HLA-DOA	33083290|33083290	0.746000|0.746000	0.28272|0.28272	0.500000|0.500000	0.27589|0.27589	0.974000|0.974000	0.67602|0.67602	1.317000|1.317000	0.33631|0.33631	0.902000|0.902000	0.36520|0.36520	0.533000|0.533000	0.62120|0.62120	CAT|ATC	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.612	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DOA	protein_coding	OTTHUMT00000076426.2	A	NM_002119	-		32975312	-1	no_errors	ENST00000229829	ensembl	human	known	74_37	missense	SNP	0.303	T	T	32975312	A	T	32975312	3	4	176	1	0	0	0	0	1	0	0	0	7202	333	12	5	375	5	HLA-DOA	6	32975312	Missense_Mutation	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	2403359	32975312	138139755	33	12353											
COL19A1	1310	genome.wustl.edu	37	chr6	70916680	70916680	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaggtcttcctgggacttCaggtaagtgggatattgtct	12	8	3	0	rs148400214		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr6:70916680C>T	ENST00000322773.4	+	50	3401	c.3299C>T	c.(3298-3300)tCa>tTa	p.S1100L	COL19A1_ENST00000393344.1_Missense_Mutation_p.S722L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1100	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGGACTTCAGGTAAGTGG	0.453																																																	0								ENSG00000082293	C	LEU/SER	0,4406		0,0,2203	76	72	73		3299	5.8	1	6	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL19A1	NM_001858.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1100/1143	70916680	1,13005	2203	4300	6503	COL19A1	SO:0001583	missense	0			-	HGNC		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3299C>T	6.37:g.70916680C>T	ENSP00000316030:p.Ser1100Leu	Somatic	0	56	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	46	48.31	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.S1100L	ENST00000322773.4	37	c.3299	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610433	0.46527	0.0	1.16E-4	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.94046	-3.34;-3.34	5.77	5.77	0.91146	.	0.284212	0.28889	N	0.013816	D	0.88588	0.6477	L	0.52905	1.665	0.40064	D	0.975932	P	0.35745	0.518	B	0.33890	0.172	D	0.87684	0.2549	10	0.32370	T	0.25	.	18.1731	0.89753	0.0:1.0:0.0:0.0	.	1100	Q14993	COJA1_HUMAN	L	1100;722	ENSP00000316030:S1100L;ENSP00000377013:S722L	ENSP00000316030:S1100L	S	+	2	0	COL19A1	70973401	1.000000	0.71417	0.995000	0.50966	0.444000	0.32077	5.028000	0.64115	2.729000	0.93468	0.467000	0.42956	TCA	-	NULL		0.453	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	protein_coding	OTTHUMT00000041127.1	C		rs148400214		70916680	1	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70916680	C	T	70916680	3	4	176	1	0	0	0	0	1	0	0	0	3678	838	29	2	3493	2	COL19A1	6	70916680	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	37941368	70916680	100198387	34	12354											
EPHA7	2045	genome.wustl.edu	37	chr6	93964495	93964495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcttcgggtgctgtccacCttactggaatttttccaccc	9	13	0	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr6:93964495C>A	ENST00000369303.4	-	14	2586	c.2402G>T	c.(2401-2403)aGg>aTg	p.R801M		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	801	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)		TGCTGTCCACCTTACTGGAAT	0.353																																																	0								ENSG00000135333						96	82	87					6																	93964495		2203	4300	6503	EPHA7	SO:0001583	missense	0			-	HGNC	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.2402G>T	6.37:g.93964495C>A	ENSP00000358309:p.Arg801Met	Somatic	0	32	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R801M	ENST00000369303.4	37	c.2402	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803497	0.90623	.	.	ENSG00000135333	ENST00000369303	D	0.83755	-1.76	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.951;0.971	D	0.93137	0.6538	10	0.87932	D	0	.	19.1563	0.93511	0.0:1.0:0.0:0.0	.	797;796;801	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	M	801	ENSP00000358309:R801M	ENSP00000358309:R801M	R	-	2	0	EPHA7	94021216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.715000	0.84713	2.542000	0.85734	0.655000	0.94253	AGG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	C		-		93964495	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93964495	C	A	93964495	3	1	176	1	0	0	0	0	1	0	0	0	5174	681	24	3	610	3	EPHA7	6	93964495	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	23047815	93964495	77150572	35	12355											
IQCE	23288	genome.wustl.edu	37	chr7	2646853	2646853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccccacccttcctcgcagCtcttcctggtaatttcattc	4	18	2	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr7:2646853C>G	ENST00000402050.2	+	21	2145	c.1961C>G	c.(1960-1962)gCt>gGt	p.A654G	IQCE_ENST00000325979.7_Missense_Mutation_p.A589G|IQCE_ENST00000404984.1_Missense_Mutation_p.A603G|IQCE_ENST00000438376.2_Missense_Mutation_p.A638G	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	654						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTCCTCGCAGCTCTTCCTGGT	0.592																																																	0								ENSG00000106012						65	72	70					7																	2646853		1934	4135	6069	IQCE	SO:0001583	missense	0			-	HGNC	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1961C>G	7.37:g.2646853C>G	ENSP00000385597:p.Ala654Gly	Somatic	0	42	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	47	26.15	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A654G	ENST00000402050.2	37	c.1961	CCDS43542.1	7	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031960	0.54790	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.35789	2.64;2.62;2.63;2.63;1.29	4.85	3.96	0.45880	.	1.397010	0.05079	N	0.483112	T	0.39835	0.1093	L	0.59436	1.845	0.80722	D	1	P;P;P;P;P	0.50156	0.888;0.888;0.888;0.888;0.932	B;B;B;B;B	0.42692	0.221;0.221;0.221;0.221;0.395	T	0.20042	-1.0287	10	0.35671	T	0.21	-4.353	9.2634	0.37625	0.0:0.8987:0.0:0.1013	.	589;638;654;654;638	B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;IQCE_HUMAN;.;.	G	654;603;638;589;234	ENSP00000385597:A654G;ENSP00000385945:A603G;ENSP00000396178:A638G;ENSP00000313772:A589G;ENSP00000405982:A234G	ENSP00000313772:A589G	A	+	2	0	IQCE	2613379	0.086000	0.21541	0.003000	0.11579	0.568000	0.35870	3.365000	0.52335	1.169000	0.42739	0.655000	0.94253	GCT	-	NULL		0.592	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	protein_coding	OTTHUMT00000325063.2	C	NM_152558	-		2646853	1	no_errors	ENST00000402050	ensembl	human	known	74_37	missense	SNP	0.004	G	G	2646853	C	G	2646853	3	3	176	1	0	0	0	0	1	0	0	0	7808	797	28	4	2043	4	IQCE	7	2646853	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09		2646853	156491810	36	12356											
TNPO3	23534	genome.wustl.edu	37	chr7	128619071	128619071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcagcagtgctgcagatCctttgcctacacagcgaaca	10	13	0	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr7:128619071C>T	ENST00000265388.5	-	16	2170	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E	TNPO3_ENST00000471166.1_Missense_Mutation_p.G710E|TNPO3_ENST00000393245.1_Missense_Mutation_p.G710E|TNPO3_ENST00000471234.1_Missense_Mutation_p.G612E|TNPO3_ENST00000482320.1_Missense_Mutation_p.G610E			Q9Y5L0	TNPO3_HUMAN	transportin 3	676					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGCTGCAGATCCTTTGCCTAC	0.507																																					Pancreas(147;583 2585 39696 52331)												0								ENSG00000064419						178	170	172					7																	128619071		2203	4300	6503	TNPO3	SO:0001583	missense	0			-	HGNC	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2027G>A	7.37:g.128619071C>T	ENSP00000265388:p.Gly676Glu	Somatic	0	28	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP							pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.G710E	ENST00000265388.5	37	c.2129	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214381	0.58452	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;0.07;-0.09	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	L	0.34521	1.04	0.80722	D	1	P;P;B;B	0.36282	0.498;0.546;0.406;0.284	B;B;B;B	0.32465	0.115;0.146;0.139;0.066	T	0.49163	-0.8968	10	0.02654	T	1	-13.824	17.4008	0.87459	0.0:1.0:0.0:0.0	.	612;710;676;676	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	E	710;676;610;612;710	ENSP00000376936:G710E;ENSP00000265388:G676E;ENSP00000420089:G610E;ENSP00000418646:G612E;ENSP00000418267:G710E	ENSP00000265388:G676E	G	-	2	0	TNPO3	128406307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.458000	0.80787	2.718000	0.92993	0.585000	0.79938	GGA	-	superfamily_ARM-type_fold		0.507	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	C	NM_012470	-		128619071	-1	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128619071	C	T	128619071	3	4	176	1	0	0	0	0	1	0	0	0	16344	855	30	2	772	2	TNPO3	7	128619071	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	125972218	128619071	30519592	37	12357											
DOCK8	81704	genome.wustl.edu	37	chr9	432324	432324	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgactccttttcccacccaGgtacaccgaagcacatacct	5	16	0	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr9:432324G>T	ENST00000453981.1	+	37	4897	c.4785G>T	c.(4783-4785)caG>caT	p.Q1595H	DOCK8_ENST00000382329.1_Splice_Site_p.Q1062H|DOCK8_ENST00000469391.1_Splice_Site_p.Q1495H|DOCK8_ENST00000432829.2_Splice_Site_p.Q1527H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1595					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)		TTCCCACCCAGGTACACCGAA	0.403																																																	0								ENSG00000107099						125	112	117					9																	432324		2203	4300	6503	DOCK8	SO:0001630	splice_region_variant	0			-	HGNC	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	ENST00000453981.1:c.4785+1G>T	9.37:g.432324G>T		Somatic	0	19	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.Q1595H	ENST00000453981.1	37	c.4785	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855432	0.71719	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.68181	4.52;-0.31;-0.31;-0.31	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86544	0.1830	10	0.72032	D	0.01	.	13.4281	0.61037	0.0746:0.0:0.9254:0.0	.	1495;1062;1595	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	H	1595;1563;1527;1495;1062	ENSP00000408464:Q1595H;ENSP00000394888:Q1527H;ENSP00000419438:Q1495H;ENSP00000371766:Q1062H	ENSP00000287364:Q1563H	Q	+	3	2	DOCK8	422324	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.309000	0.72825	2.756000	0.94617	0.655000	0.94253	CAG	-	NULL		0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307	-	Missense_Mutation	432324	1	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	SNP	1.000	T	T	432324	G	T	432324	5	4	176	1	0	0	0	0	0	0	1	0	4695	1014	35	3	4931	3	DOCK8	9	432324	Splice_Site	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		432324	140781107	38	12358											
NOL8	55035	genome.wustl.edu	37	chr9	95078413	95078413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtattttgagggatcatatTtgatgatgttacgcaagtca	10	4	2	3	rs41305617	byFrequency	TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr9:95078413T>G	ENST00000535387.1	-	6	493	c.494A>C	c.(493-495)aAa>aCa	p.K165T	NOL8_ENST00000545558.1_Missense_Mutation_p.K165T|NOL8_ENST00000358855.4_Missense_Mutation_p.K97T|NOL8_ENST00000542053.1_Missense_Mutation_p.K97T|NOL8_ENST00000442668.2_Missense_Mutation_p.K165T					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGGATCATATTTGATGATGTT	0.363																																																	0								ENSG00000198000						96	85	89					9																	95078413		1859	4105	5964	NOL8	SO:0001583	missense	0			-	HGNC	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.494A>C	9.37:g.95078413T>G	ENSP00000441300:p.Lys165Thr	Somatic	0	47	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	16	69.81		Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K165T	ENST00000535387.1	37	c.494	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572054	0.65765	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807	T;T;T;T;T;T;T;T	0.54479	2.12;2.01;2.12;2.32;2.01;1.84;0.57;0.67	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	L	0.49126	1.545	0.51233	D	0.999914	D	0.89917	1.0	D	0.91635	0.999	T	0.70842	-0.4762	10	0.87932	D	0	-23.0153	15.1284	0.72500	0.0:0.0:0.0:1.0	.	165	Q76FK4	NOL8_HUMAN	T	165;167;97;165;165;97;165;165;165;97;97	ENSP00000401177:K165T;ENSP00000351723:K97T;ENSP00000441140:K165T;ENSP00000441300:K165T;ENSP00000440709:K97T;ENSP00000414112:K165T;ENSP00000412471:K165T;ENSP00000390143:K165T	ENSP00000351723:K97T	K	-	2	0	NOL8	94118234	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.001000	0.76297	2.021000	0.59480	0.528000	0.53228	AAA	-	NULL		0.363	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	protein_coding	OTTHUMT00000053082.2	T	NM_017948	-		95078413	-1	no_errors	ENST00000442668	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95078413	T	G	95078413	3	3	176	1	0	0	0	0	1	0	0	0	10529	1841	64	5	3053	5	NOL8	9	95078413	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09	94646089	95078413	46135018	39	12359											
FAM22F	54754	genome.wustl.edu	37	chr9	97088084	97088084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcaccagagggccggctGgaggaaccactgcagtcacg	15	12	1	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr9:97088084G>A	ENST00000253262.4	-	2	169	c.149C>T	c.(148-150)cCa>cTa	p.P50L	NUTM2F_ENST00000335456.7_Missense_Mutation_p.P50L|NUTM2F_ENST00000341207.4_Missense_Mutation_p.P50L	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	50																	AGGGCCGGCTGGAGGAACCAC	0.682																																																	0								ENSG00000130950						18	22	21					9																	97088084		1931	4112	6043	NUTM2F	SO:0001583	missense	0			-	HGNC		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.149C>T	9.37:g.97088084G>A	ENSP00000253262:p.Pro50Leu	Somatic	0	113	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	52	35.80	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP							NULL	p.P50L	ENST00000253262.4	37	c.149	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	.	13.55	2.269669	0.40095	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207;ENST00000375347	T;T;T	0.45668	0.89;0.89;0.89	1.2	1.2	0.21068	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.49795	0.1578	L	0.49640	1.575	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.33828	-0.9853	9	0.24483	T	0.36	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	50	A1L443	FA22F_HUMAN	L	50	ENSP00000335067:P50L;ENSP00000253262:P50L;ENSP00000343865:P50L	ENSP00000253262:P50L	P	-	2	0	FAM22F	96127905	0.054000	0.20591	0.007000	0.13788	0.020000	0.10135	1.761000	0.38440	0.992000	0.38840	0.456000	0.33151	CCA	-	NULL		0.682	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2F	protein_coding	OTTHUMT00000053173.2	G	NM_017561	-		97088084	-1	no_errors	ENST00000253262	ensembl	human	known	74_37	missense	SNP	0.008	A	A	97088084	G	A	97088084	3	1	176	1	0	0	0	0	1	0	0	0	5547	1348	47	2	2145	2	FAM22F	9	97088084	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	2009671	97088084	44125347	40	12360											
KLF4	9314	genome.wustl.edu	37	chr9	110249601	110249601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggagcggcgggacttgCggctgcatctgatcgggcag	17	9	1	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr9:110249601C>T	ENST00000374672.4	-	3	1547	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	358	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GCGGGACTTGCGGCTGCATCT	0.652																																																	0								ENSG00000136826						25	23	24					9																	110249601		2203	4300	6503	KLF4	SO:0001819	synonymous_variant	0			-	HGNC	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1074G>A	9.37:g.110249601C>T		Somatic	0	23	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P358	ENST00000374672.4	37	c.1074	CCDS6770.2	9																																																																																			-	NULL		0.652	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF4	protein_coding	OTTHUMT00000053556.2	C	NM_004235	-		110249601	-1	no_errors	ENST00000374672	ensembl	human	known	74_37	silent	SNP	0.065	T	T	110249601	C	T	110249601	2	4	176	1	0	0	0	0	0	0	0	1	8350	755	27	1		1	KLF4	9	110249601	Silent	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	13161517	110249601	30963830	41	12361											
SETX	23064	genome.wustl.edu	37	chr9	135140048	135140048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcttcagcagtcgtgggtCctgaagttggtcatgaacag	12	10	3	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr9:135140048C>G	ENST00000224140.5	-	26	7794	c.7612G>C	c.(7612-7614)Gac>Cac	p.D2538H	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.D2567H|SETX_ENST00000393220.1_Missense_Mutation_p.D2505H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2538					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTCGTGGGTCCTGAAGTTGG	0.507																																																	0								ENSG00000107290						106	106	106					9																	135140048		2203	4300	6503	SETX	SO:0001583	missense	0			-	HGNC	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7612G>C	9.37:g.135140048C>G	ENSP00000224140:p.Asp2538His	Somatic	0	102	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	72	13.25	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.D2567H	ENST00000224140.5	37	c.7699	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785735	0.49997	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.96830	-2.52;-4.14;-3.54;-2.22	4.94	4.94	0.65067	.	0.162186	0.37577	N	0.002031	D	0.97782	0.9272	M	0.72118	2.19	0.49213	D	0.999765	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.98483	1.0606	10	0.66056	D	0.02	.	17.1177	0.86694	0.0:1.0:0.0:0.0	.	2505;2538;2567	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	2538;809;2567;2505	ENSP00000224140:D2538H;ENSP00000409143:D809H;ENSP00000361242:D2567H;ENSP00000376913:D2505H	ENSP00000224140:D2538H	D	-	1	0	SETX	134129869	1.000000	0.71417	0.995000	0.50966	0.104000	0.19210	4.743000	0.62110	2.445000	0.82738	0.561000	0.74099	GAC	-	NULL		0.507	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	protein_coding	OTTHUMT00000054774.3	C	NM_015046	-		135140048	-1	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	SNP	1.000	G	G	135140048	C	G	135140048	3	3	176	1	0	0	0	0	1	0	0	0	14149	855	30	4	425	4	SETX	9	135140048	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	24890447	135140048	6073383	42	12362											
SEC16A	9919	genome.wustl.edu	37	chr9	139347902	139347902	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattagcaaattttccatcaAaattttcttcgcttagctcg	5	9	2	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr9:139347902A>C	ENST00000371706.3	-	20	5636	c.5603T>G	c.(5602-5604)tTt>tGt	p.F1868C	SEC16A_ENST00000313050.7_Missense_Mutation_p.F2046C|SEC16A_ENST00000431893.2_Missense_Mutation_p.F1868C|SEC16A_ENST00000290037.6_Missense_Mutation_p.F1868C|SEC16A_ENST00000398335.1_5'Flank			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1868	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTCCATCAAAATTTTCTTC	0.438																																																	0								ENSG00000148396						78	81	80					9																	139347902		1867	4108	5975	SEC16A	SO:0001583	missense	0			-	HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5603T>G	9.37:g.139347902A>C	ENSP00000360771:p.Phe1868Cys	Somatic	0	48	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP							NULL	p.F2046C	ENST00000371706.3	37	c.6137		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.33|14.33	2.503428|2.503428	0.44558|0.44558	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348|ENST00000433860	T;T;T;T;T;T|.	0.51325|.	1.64;0.71;1.33;1.65;1.63;1.63|.	4.84|4.84	2.45|2.45	0.29901|0.29901	.|.	0.490203|0.490203	0.21671|0.21671	N|N	0.070868|0.070868	T|T	0.45337|0.45337	0.1337|0.1337	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	0.999;1.0;0.995;0.983;0.997|.	D;D;P;P;P|.	0.83275|.	0.973;0.996;0.847;0.635;0.808|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|6	0.66056|.	D|.	0.02|.	-1.3395|-1.3395	7.5218|7.5218	0.27633|0.27633	0.8337:0.0:0.1663:0.0|0.8337:0.0:0.1663:0.0	.|.	2046;1868;1868;1436;1868|.	F1T0I1;O15027-5;O15027-4;A4QN19;O15027|.	.;.;.;.;SC16A_HUMAN|.	C|L	2046;440;768;1868;1868;1868;1436;404|175	ENSP00000325827:F2046C;ENSP00000277537:F440C;ENSP00000403525:F768C;ENSP00000360771:F1868C;ENSP00000290037:F1868C;ENSP00000387583:F1868C|.	ENSP00000277537:F440C|.	F|F	-|-	2|3	0|2	SEC16A|SEC16A	138467723|138467723	0.075000|0.075000	0.21258|0.21258	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	2.998000|2.998000	0.49465|0.49465	0.295000|0.295000	0.22570|0.22570	0.459000|0.459000	0.35465|0.35465	TTT|TTT	-	NULL		0.438	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055077.1	A	XM_088459	-		139347902	-1	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	SNP	0.002	C	C	139347902	A	C	139347902	3	2	176	1	0	0	0	0	1	0	0	0	13994	14	1	5	980	5	SEC16A	9	139347902	Missense_Mutation	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	4207854	139347902	1865529	43	12363											
KIAA1217	56243	genome.wustl.edu	37	chr10	24762620	24762620	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgagtgcttattgtaAcccctcaatgcaagcggaaa	10	10	2	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr10:24762620A>T	ENST00000376454.3	+	6	1340	c.1310A>T	c.(1309-1311)aAc>aTc	p.N437I	KIAA1217_ENST00000396446.1_Missense_Mutation_p.N155I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.N155I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.N155I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.N357I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.N437I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.N437I|KIAA1217_ENST00000430453.2_Missense_Mutation_p.N358I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.N155I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	437					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						GCTTATTGTAACCCCTCAATG	0.498																																																	0								ENSG00000120549						80	68	72					10																	24762620		2203	4300	6503	KIAA1217	SO:0001583	missense	0			-	HGNC	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.1310A>T	10.37:g.24762620A>T	ENSP00000365637:p.Asn437Ile	Somatic	0	37	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	0	100.00	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP							pfam_AIP3_C	p.N437I	ENST00000376454.3	37	c.1310	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	A	14.92	2.677921	0.47886	.	.	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	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.55	2.02	0.26589	.	0.260189	0.46145	D	0.000317	T	0.57636	0.2067	L	0.56769	1.78	0.36917	D	0.891188	D;P;D;D;D;D;D;P	0.69078	0.976;0.734;0.987;0.959;0.997;0.987;0.987;0.874	P;B;P;P;D;P;P;P	0.64776	0.812;0.319;0.89;0.812;0.929;0.89;0.812;0.592	T	0.62393	-0.6864	10	0.62326	D	0.03	.	8.7369	0.34534	0.7838:0.0:0.2162:0.0	.	437;437;155;155;155;155;437;437	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	I	357;437;437;155;437;437;287;358;155;155;155;155;155	ENSP00000365645:N357I;ENSP00000365639:N437I;ENSP00000392625:N437I;ENSP00000365637:N437I;ENSP00000365635:N437I;ENSP00000404798:N287I;ENSP00000389680:N358I;ENSP00000302343:N155I;ENSP00000379722:N155I;ENSP00000365634:N155I;ENSP00000379723:N155I	ENSP00000302343:N155I	N	+	2	0	KIAA1217	24802626	0.372000	0.25064	0.998000	0.56505	0.341000	0.28922	-0.023000	0.12456	0.414000	0.25790	0.533000	0.62120	AAC	-	NULL		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	A	NM_019590	-		24762620	1	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24762620	A	T	24762620	3	4	176	1	0	0	0	0	1	0	0	0	8218	43	2	5	1332	5	KIAA1217	10	24762620	Missense_Mutation	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09		24762620	110772127	44	12364											
ZMIZ1	57178	genome.wustl.edu	37	chr10	81050826	81050826	+	Frame_Shift_Del	DEL	G	G	-													ctcaactccccacagtttgcGgggcagcagcagcagttctc					rs146426773		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr10:81050826delG	ENST00000334512.5	+	10	1223	c.651delG	c.(649-651)gcgfs	p.A217fs	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	217					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTTTGCGGGGCAGCAGC	0.642																																																	0								ENSG00000108175						87	76	80					10																	81050826		2203	4300	6503	ZMIZ1	SO:0001589	frameshift_variant	0				HGNC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.651delG	10.37:g.81050826delG	ENSP00000334474:p.Ala217fs	Somatic	0	35	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL							pfam_Znf_MIZ,pfscan_Znf_MIZ	p.Q219fs	ENST00000334512.5	37	c.651	CCDS7357.1	10																																																																																			-	NULL		0.642	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	protein_coding	OTTHUMT00000048944.2	G	NM_020338			81050826	1	no_errors	ENST00000334512	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	81050826	G	-	81050826	7	5	176	1	0	1	0	1	0	0	0	0	17703	1103	39	0	673	0	ZMIZ1	10	81050826	Frame_Shift_Del	DEL	G	TCGA-KD-A5QU-01A-11D-A27P-09	56288206	81050826	54483921	45	12365											
FAM178A	55719	genome.wustl.edu	37	chr10	102684152	102684152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataaaaccgctagctccaCgacaaaggagaaggagacaa	9	9	0	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr10:102684152C>T	ENST00000238961.4	+	5	1936	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	FAM178A_ENST00000370271.3_Missense_Mutation_p.T465M|FAM178A_ENST00000370269.3_Missense_Mutation_p.T465M	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	465						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GCTAGCTCCACGACAAAGGAG	0.403																																																	0								ENSG00000119906						80	91	87					10																	102684152		2203	4300	6503	FAM178A	SO:0001583	missense	0			-	HGNC	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1394C>T	10.37:g.102684152C>T	ENSP00000238961:p.Thr465Met	Somatic	0	20	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP							NULL	p.T465M	ENST00000238961.4	37	c.1394	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.331184	0.01298	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.45668	0.89;1.5;1.5	5.95	2.08	0.27032	.	0.972670	0.08421	N	0.948265	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22800	-1.0206	10	0.51188	T	0.08	0.302	2.8993	0.05700	0.1338:0.0751:0.2783:0.5128	.	114;465;465;465	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	M	465	ENSP00000359294:T465M;ENSP00000238961:T465M;ENSP00000359292:T465M	ENSP00000238961:T465M	T	+	2	0	FAM178A	102674142	0.005000	0.15991	0.983000	0.44433	0.005000	0.04900	-0.008000	0.12788	0.125000	0.18397	-0.269000	0.10298	ACG	-	NULL		0.403	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	protein_coding	OTTHUMT00000049897.3	C		-		102684152	1	no_errors	ENST00000370269	ensembl	human	known	74_37	missense	SNP	0.249	T	T	102684152	C	T	102684152	3	4	176	1	0	0	0	0	1	0	0	0	5505	536	19	1	1412	1	FAM178A	10	102684152	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	21633326	102684152	32850595	46	12366											
OR2AG2	338755	genome.wustl.edu	37	chr11	6789507	6789507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccctcatttgatggcaTacgaagcacagtgaatagga	9	11	1	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr11:6789507T>C	ENST00000338569.2	-	1	779	c.682A>G	c.(682-684)Atg>Gtg	p.M228V		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	228						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(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTGATGGCATACGAAGCACA	0.478																																																	0								ENSG00000188124						101	87	92					11																	6789507		2201	4296	6497	OR2AG2	SO:0001583	missense	0			-	HGNC	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.682A>G	11.37:g.6789507T>C	ENSP00000342697:p.Met228Val	Somatic	0	85	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	23	58.18		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M228V	ENST00000338569.2	37	c.682	CCDS31413.1	11	.	.	.	.	.	.	.	.	.	.	T	4.040	0.004954	0.07866	.	.	ENSG00000188124	ENST00000338569	T	0.00152	8.66	4.47	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.193258	0.36932	N	0.002331	T	0.00210	0.0006	L	0.46741	1.465	0.09310	N	1	B	0.25272	0.122	B	0.39152	0.292	T	0.15093	-1.0449	10	0.87932	D	0	.	9.1431	0.36917	0.1631:0.0:0.0:0.8369	.	228	A6NM03	O2AG2_HUMAN	V	228	ENSP00000342697:M228V	ENSP00000342697:M228V	M	-	1	0	OR2AG2	6746083	0.010000	0.17322	0.187000	0.23214	0.062000	0.15995	1.050000	0.30404	1.025000	0.39708	0.533000	0.62120	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.478	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	protein_coding	OTTHUMT00000386775.1	T	NM_001004490	-		6789507	-1	no_errors	ENST00000338569	ensembl	human	known	74_37	missense	SNP	0.008	C	C	6789507	T	C	6789507	3	2	176	1	0	0	0	0	1	0	0	0	10987	1406	49	5	272	5	OR2AG2	11	6789507	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09		6789507	128217009	47	12367											
CNIH2	254263	genome.wustl.edu	37	chr11	66045946	66045946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcgttcaccttcgccGcgttctgctacatgctcacc	8	17	3	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr11:66045946G>T	ENST00000311445.6	+	1	277	c.19G>T	c.(19-21)Gcg>Tcg	p.A7S	CNIH2_ENST00000530519.1_3'UTR|RP11-867G23.3_ENST00000501708.1_lincRNA|CNIH2_ENST00000528852.1_Missense_Mutation_p.A7S|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.4_ENST00000526951.1_RNA	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	7					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CACCTTCGCCGCGTTCTGCTA	0.761																																																	0								ENSG00000174871						23	18	20					11																	66045946		2190	4284	6474	CNIH2	SO:0001583	missense	0			-	HGNC	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"cornichon homolog 2 (Drosophila)"			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.19G>T	11.37:g.66045946G>T	ENSP00000310003:p.Ala7Ser	Somatic	0	25	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		Missense_Mutation	SNP							pfam_Cornichon	p.A7S	ENST00000311445.6	37	c.19	CCDS8131.1	11	.	.	.	.	.	.	.	.	.	.	g	18.46	3.629090	0.67015	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.45668	0.89;0.89	2.33	2.33	0.28932	.	0.000000	0.64402	U	0.000003	T	0.59183	0.2175	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.998;0.98	D;P	0.68943	0.961;0.887	T	0.61347	-0.7081	10	0.41790	T	0.15	-1.2826	11.7969	0.52104	0.0:0.0:1.0:0.0	.	7;7	Q6PI25;E9PS15	CNIH2_HUMAN;.	S	7	ENSP00000432177:A7S;ENSP00000310003:A7S	ENSP00000310003:A7S	A	+	1	0	CNIH2	65802522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.055000	0.89453	1.308000	0.44962	0.444000	0.29173	GCG	-	pfam_Cornichon		0.761	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH2	protein_coding	OTTHUMT00000391892.1	G	NM_182553	-		66045946	1	no_errors	ENST00000311445	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66045946	G	T	66045946	3	4	176	1	0	0	0	0	1	0	0	0	3605	1087	38	3	21	3	CNIH2	11	66045946	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	59256439	66045946	68960570	48	12368											
RBM14	10432	genome.wustl.edu	37	chr11	66393948	66393948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtatggttccgaccggCgtttagccgagctctctgat	12	11	1	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr11:66393948C>A	ENST00000310137.4	+	3	1958	c.1819C>A	c.(1819-1821)Cgt>Agt	p.R607S	RBM14_ENST00000409738.4_Silent_p.G118G|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Silent_p.G155G|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	607					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCCGACCGGCGTTTAGCCGA	0.572																																																	0								ENSG00000239306						70	64	66					11																	66393948		2200	4295	6495	RBM14	SO:0001583	missense	0			-	HGNC	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1819C>A	11.37:g.66393948C>A	ENSP00000311747:p.Arg607Ser	Somatic	0	40	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R607S	ENST00000310137.4	37	c.1819	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038609	0.55003	.	.	ENSG00000239306	ENST00000310137	D	0.85556	-2.0	5.57	5.57	0.84162	.	0.059083	0.64402	D	0.000004	D	0.87853	0.6282	L	0.27053	0.805	0.80722	D	1	D	0.56968	0.978	D	0.71184	0.972	D	0.89286	0.3615	10	0.87932	D	0	-2.0988	17.0443	0.86498	0.0:1.0:0.0:0.0	.	607	Q96PK6	RBM14_HUMAN	S	607	ENSP00000311747:R607S	ENSP00000311747:R607S	R	+	1	0	RBM14	66150524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.909000	0.63314	2.624000	0.88883	0.557000	0.71058	CGT	-	NULL		0.572	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	protein_coding	OTTHUMT00000277128.1	C	NM_006328	-		66393948	1	no_errors	ENST00000310137	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66393948	C	A	66393948	3	1	176	1	0	0	0	0	1	0	0	0	13123	768	27	3	1829	3	RBM14	11	66393948	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	348002	66393948	68612568	49	12369											
RAD9A	5883	genome.wustl.edu	37	chr11	67164964	67164964	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcttcggctccatcctGgcccctgtacgctcccccca	7	20	1	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr11:67164964G>T	ENST00000307980.2	+	11	1203	c.1110G>T	c.(1108-1110)ctG>ctT	p.L370L	PPP1CA_ENST00000532446.1_5'Flank|RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	370	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTCCATCCTGGCCCCTGTAC	0.617								Other conserved DNA damage response genes																																									0								ENSG00000172613						80	63	68					11																	67164964		2200	4295	6495	RAD9A	SO:0001819	synonymous_variant	0			-	HGNC	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"RAD9 (S. pombe) homolog"	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.1110G>T	11.37:g.67164964G>T		Somatic	0	54	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	B2RCZ8|Q6FI29|Q96C41	Silent	SNP							pfam_Rad9/Ddc1,pirsf_Rad9	p.L370	ENST00000307980.2	37	c.1110	CCDS8159.1	11																																																																																			-	pirsf_Rad9		0.617	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD9A	protein_coding	OTTHUMT00000395481.2	G	NM_004584	-		67164964	1	no_errors	ENST00000307980	ensembl	human	known	74_37	silent	SNP	0.998	T	T	67164964	G	T	67164964	2	4	176	1	0	0	0	0	0	0	0	1	13003	1335	47	3		3	RAD9A	11	67164964	Silent	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	771016	67164964	67841552	50	12370											
IGSF9B	22997	genome.wustl.edu	37	chr11	133826591	133826591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcacttcaactcaccttcaGccgcaagccctcgggtgccg	9	18	3	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr11:133826591G>T	ENST00000321016.8	-	1	289	c.59C>A	c.(58-60)gCt>gAt	p.A20D	AP000911.1_ENST00000582427.1_RNA|IGSF9B_ENST00000533871.2_Missense_Mutation_p.A20D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	20					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)		CTCACCTTCAGCCGCAAGCCC	0.662																																																	0								ENSG00000080854						32	42	38					11																	133826591		2012	4174	6186	IGSF9B	SO:0001583	missense	0			-	HGNC	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.59C>A	11.37:g.133826591G>T	ENSP00000317980:p.Ala20Asp	Somatic	0	72	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	G5EA26	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A20D	ENST00000321016.8	37	c.59		11	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436966	0.62955	.	.	ENSG00000080854	ENST00000321016;ENST00000527648	T;T	0.61158	0.15;0.13	5.0	5.0	0.66597	.	.	.	.	.	T	0.40956	0.1138	N	0.22421	0.69	0.43841	D	0.996424	B	0.09022	0.002	B	0.06405	0.002	T	0.24261	-1.0165	9	0.22706	T	0.39	.	10.7534	0.46221	0.0896:0.0:0.9104:0.0	.	20	Q9UPX0	TUTLB_HUMAN	D	20	ENSP00000317980:A20D;ENSP00000436576:A20D	ENSP00000317980:A20D	A	-	2	0	IGSF9B	133331801	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.841000	0.62824	2.333000	0.79357	0.555000	0.69702	GCT	-	NULL		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	protein_coding		G	XM_290502	-		133826591	-1	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133826591	G	T	133826591	3	4	176	1	0	0	0	0	1	0	0	0	7608	971	34	3	4066	3	IGSF9B	11	133826591	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	66661627	133826591	1179925	51	12371											
LPAR5	57121	genome.wustl.edu	37	chr12	6729465	6729465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttggtggccgaggtcctgGcccggtgcggagtgcccagg	19	12	0	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr12:6729465G>T	ENST00000329858.4	-	2	1706	c.950C>A	c.(949-951)gCc>gAc	p.A317D	LPAR5_ENST00000431922.1_Missense_Mutation_p.A317D|LPAR5_ENST00000540335.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGAGGTCCTGGCCCGGTGCGG	0.726																																					NSCLC(74;891 2312 37538)												0								ENSG00000184574						13	16	15					12																	6729465		2195	4282	6477	LPAR5	SO:0001583	missense	0			-	HGNC	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.950C>A	12.37:g.6729465G>T	ENSP00000327875:p.Ala317Asp	Somatic	0	28	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A317D	ENST00000329858.4	37	c.950	CCDS8553.1	12	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705597	0.30232	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.37584	1.19;1.19	4.84	1.7	0.24286	.	0.919029	0.08951	N	0.870093	T	0.15132	0.0365	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	10	0.15952	T	0.53	.	6.7507	0.23485	0.1654:0.0:0.5843:0.2503	.	317	Q9H1C0	LPAR5_HUMAN	D	317	ENSP00000327875:A317D;ENSP00000393098:A317D	ENSP00000327875:A317D	A	-	2	0	LPAR5	6599726	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.268000	0.08607	0.238000	0.21222	-1.579000	0.00862	GCC	-	NULL		0.726	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	protein_coding	OTTHUMT00000400699.1	G	NM_020400	-		6729465	-1	no_errors	ENST00000329858	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6729465	G	T	6729465	3	4	176	1	0	0	0	0	1	0	0	0	8910	1203	42	3	172	3	LPAR5	12	6729465	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		6729465	127122430	52	12372											
OR8S1	341568	genome.wustl.edu	37	chr12	48919809	48919809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgccgcccactactttAtggacagatcatgggtaaac	8	12	2	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr12:48919809A>G	ENST00000310194.1	+	1	395	c.395A>G	c.(394-396)tAt>tGt	p.Y132C	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CCACTACTTTATGGACAGATC	0.532																																																	0								ENSG00000197376						145	131	136					12																	48919809		2203	4300	6503	OR8S1	SO:0001583	missense	0			-	HGNC		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.395A>G	12.37:g.48919809A>G	ENSP00000310632:p.Tyr132Cys	Somatic	0	65	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	30	49.15		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y132C	ENST00000310194.1	37	c.395	CCDS31789.1	12	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439418	0.63067	.	.	ENSG00000197376	ENST00000310194	T	0.02032	4.49	5.03	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	N	0.002178	T	0.17789	0.0427	H	0.96111	3.77	0.35938	D	0.833049	D	0.89917	1.0	D	0.91635	0.999	T	0.18840	-1.0324	10	0.87932	D	0	-61.4103	8.8967	0.35470	0.9115:0.0:0.0885:0.0	.	132	Q8NH09	OR8S1_HUMAN	C	132	ENSP00000310632:Y132C	ENSP00000310632:Y132C	Y	+	2	0	OR8S1	47206076	1.000000	0.71417	0.991000	0.47740	0.876000	0.50452	8.400000	0.90200	0.937000	0.37394	-0.256000	0.11100	TAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.532	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	protein_coding	OTTHUMT00000406881.1	A		-		48919809	1	no_errors	ENST00000310194	ensembl	human	known	74_37	missense	SNP	0.999	G	G	48919809	A	G	48919809	3	3	176	1	0	0	0	0	1	0	0	0	11248	449	16	5	397	5	OR8S1	12	48919809	Missense_Mutation	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	42190344	48919809	84932086	53	12373											
UBE3B	89910	genome.wustl.edu	37	chr12	109948259	109948259	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgaggaccactggctgCgaaagtgagctccaggggtg	15	13	0	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr12:109948259C>T	ENST00000342494.3	+	17	2447	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*	UBE3B_ENST00000280774.5_Nonsense_Mutation_p.R618*|UBE3B_ENST00000434735.2_Nonsense_Mutation_p.R618*|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	618					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCACTGGCTGCGAAAGTGAGC	0.642																																																	0								ENSG00000151148						25	23	24					12																	109948259		2203	4300	6503	UBE3B	SO:0001587	stop_gained	0			-	HGNC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1852C>T	12.37:g.109948259C>T	ENSP00000340596:p.Arg618*	Somatic	0	33	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP							pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.R618*	ENST00000342494.3	37	c.1852	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	C	45	11.635960	0.99585	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-17.441	17.4677	0.87638	0.0:1.0:0.0:0.0	.	.	.	.	X	618;618;618;618;45	.	ENSP00000280774:R618X	R	+	1	2	UBE3B	108432642	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.624000	0.54231	2.370000	0.80446	0.462000	0.41574	CGA	-	NULL		0.642	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	protein_coding	OTTHUMT00000403119.1	C	NM_183415	-		109948259	1	no_errors	ENST00000342494	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	109948259	C	T	109948259	4	4	176	1	0	0	0	0	0	1	0	0	16887	760	27	1	1910	1	UBE3B	12	109948259	Nonsense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	61028450	109948259	23903636	54	12374											
C1QTNF9	338872	genome.wustl.edu	37	chr13	24895530	24895530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttcactgtggggctcaCggtgctgagcaagtttcctt	12	10	2	1	rs557592254		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr13:24895530C>T	ENST00000382071.2	+	4	711	c.626C>T	c.(625-627)aCg>aTg	p.T209M	AL359736.1_ENST00000422229.2_Missense_Mutation_p.V13M|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.T209M|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	209	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GTGGGGCTCACGGTGCTGAGC	0.458													C|||	1	0.000199681	0	0	5008	,	,		17715	0.001		0	False		,,,				2504	0																0								ENSG00000240654						67	48	54					13																	24895530		2203	4291	6494	C1QTNF9	SO:0001583	missense	0			-	HGNC	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.626C>T	13.37:g.24895530C>T	ENSP00000371503:p.Thr209Met	Somatic	0	23	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP							pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.T209M	ENST00000382071.2	37	c.626	CCDS9306.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	17.23|17.23	3.337860|3.337860	0.60963|0.60963	.|.	.|.	ENSG00000240654|ENSG00000205850	ENST00000382071;ENST00000332018|ENST00000422229	D;D|.	0.93488|.	-3.23;-3.23|.	3.96|3.96	3.96|3.96	0.45880|0.45880	Tumour necrosis factor-like (2);Complement C1q protein (3);|.	0.158069|.	0.56097|.	D|.	0.000033|.	T|T	0.73434|0.73434	0.3586|0.3586	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.60345|.	0.873|.	T|T	0.76537|0.76537	-0.2923|-0.2923	10|6	0.66056|0.72032	D|D	0.02|0.01	.|.	9.372|9.372	0.38258|0.38258	0.0:0.8994:0.0:0.1006|0.0:0.8994:0.0:0.1006	.|.	209|.	P0C862|.	C1T9A_HUMAN|.	M|M	209|13	ENSP00000371503:T209M;ENSP00000333737:T209M|.	ENSP00000333737:T209M|ENSP00000396192:V13M	T|V	+|-	2|1	0|0	C1QTNF9|AL359736.1	23793530|23793530	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.947000|0.947000	0.59692|0.59692	5.215000|5.215000	0.65241|0.65241	2.180000|2.180000	0.69256|0.69256	0.430000|0.430000	0.28490|0.28490	ACG|GTG	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.458	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	protein_coding	OTTHUMT00000044177.1	C	NM_178540	-		24895530	1	no_errors	ENST00000332018	ensembl	human	known	74_37	missense	SNP	0.876	T	T	24895530	C	T	24895530	3	4	176	1	0	0	0	0	1	0	0	0	1972	536	19	1	636	1	C1QTNF9	13	24895530	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09		24895530	90274348	55	12375											
NUFIP1	26747	genome.wustl.edu	37	chr13	45517719	45517719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaatttctaacagttGctttaacatcttgacttgga	6	7	2	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr13:45517719G>A	ENST00000379161.4	-	9	1275	c.1229C>T	c.(1228-1230)gCa>gTa	p.A410V		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	410					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCTAACAGTTGCTTTAACATC	0.383																																																	0								ENSG00000083635						94	95	95					13																	45517719		2203	4300	6503	NUFIP1	SO:0001583	missense	0			-	HGNC	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1229C>T	13.37:g.45517719G>A	ENSP00000368459:p.Ala410Val	Somatic	0	81	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	12	82.35	Q8WVM5|Q96SG1	Missense_Mutation	SNP							pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A410V	ENST00000379161.4	37	c.1229	CCDS9393.1	13	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736507	0.30774	.	.	ENSG00000083635	ENST00000379161	T	0.45276	0.9	5.97	-1.0	0.10196	.	0.863990	0.10516	N	0.665587	T	0.20047	0.0482	N	0.17674	0.51	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.19192	-1.0313	10	0.25751	T	0.34	.	0.6442	0.00815	0.2438:0.1201:0.3148:0.3213	.	410	Q9UHK0	NUFP1_HUMAN	V	410	ENSP00000368459:A410V	ENSP00000368459:A410V	A	-	2	0	NUFIP1	44415719	0.000000	0.05858	0.472000	0.27241	0.989000	0.77384	-0.828000	0.04419	-0.103000	0.12175	0.537000	0.68136	GCA	-	NULL		0.383	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	protein_coding	OTTHUMT00000044755.2	G	NM_012345	-		45517719	-1	no_errors	ENST00000379161	ensembl	human	known	74_37	missense	SNP	0.002	A	A	45517719	G	A	45517719	3	1	176	1	0	0	0	0	1	0	0	0	10750	1319	46	2	266	2	NUFIP1	13	45517719	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	20622189	45517719	69652159	56	12376											
C14orf39	317761	genome.wustl.edu	37	chr14	60938375	60938375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctcataatattcacGtgaaaagggtgtttctgagt	8	6	4	2	rs34082126		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr14:60938375G>A	ENST00000321731.3	-	6	565	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	136					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TAATATTCACGTGAAAAGGGT	0.274																																																	0								ENSG00000179008						81	83	82					14																	60938375		2202	4288	6490	C14orf39	SO:0001583	missense	0			-	HGNC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.406C>T	14.37:g.60938375G>A	ENSP00000324920:p.Arg136Cys	Somatic	0	33	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	Q08AQ4	Missense_Mutation	SNP							NULL	p.R136C	ENST00000321731.3	37	c.406	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	4.010	-0.000864	0.07819	.	.	ENSG00000179008	ENST00000321731;ENST00000555476	T;T	0.46451	1.89;0.87	5.61	2.58	0.30949	.	1.289070	0.04955	N	0.461072	T	0.28067	0.0692	N	0.16478	0.41	0.19945	N	0.999947	B	0.06786	0.001	B	0.06405	0.002	T	0.21143	-1.0254	10	0.32370	T	0.25	3.5506	6.0938	0.20008	0.1657:0.0:0.6088:0.2256	rs34082126	136	Q8N1H7	S6OS1_HUMAN	C	136;107	ENSP00000324920:R136C;ENSP00000451665:R107C	ENSP00000324920:R136C	R	-	1	0	C14orf39	60008128	0.880000	0.30214	0.355000	0.25773	0.154000	0.21943	1.124000	0.31320	0.312000	0.23038	-0.797000	0.03246	CGT	-	NULL		0.274	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	protein_coding	OTTHUMT00000276948.1	G	NM_174978	rs34082126		60938375	-1	no_errors	ENST00000321731	ensembl	human	known	74_37	missense	SNP	0.351	A	A	60938375	G	A	60938375	3	1	176	1	0	0	0	0	1	0	0	0	1774	1145	40	1	1409	1	C14orf39	14	60938375	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		60938375	46411165	57	12377											
TLN2	83660	genome.wustl.edu	37	chr15	62986578	62986578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccatgttagaagagtccGtttccccaaaaaagtaagta	7	9	0	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr15:62986578G>A	ENST00000561311.1	+	13	1509	c.1279G>A	c.(1279-1281)Gtt>Att	p.V427I	TLN2_ENST00000306829.6_Missense_Mutation_p.V427I			Q9Y4G6	TLN2_HUMAN	talin 2	427					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAAGAGTCCGTTTCCCCAAA	0.413																																																	0								ENSG00000171914						117	110	112					15																	62986578		2203	4300	6503	TLN2	SO:0001583	missense	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1279G>A	15.37:g.62986578G>A	ENSP00000453508:p.Val427Ile	Somatic	0	45	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	A6NLB8	Missense_Mutation	SNP							pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.V427I	ENST00000561311.1	37	c.1279	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690799	0.88735	.	.	ENSG00000171914	ENST00000306829	T	0.73047	-0.71	5.74	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	M	0.84948	2.725	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.86638	0.1890	10	0.42905	T	0.14	-17.7157	17.1596	0.86800	0.0:0.1263:0.8737:0.0	.	427	Q9Y4G6	TLN2_HUMAN	I	427	ENSP00000303476:V427I	ENSP00000303476:V427I	V	+	1	0	TLN2	60773870	1.000000	0.71417	0.756000	0.31282	0.947000	0.59692	9.758000	0.98927	1.552000	0.49463	0.561000	0.74099	GTT	-	NULL		0.413	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G		-		62986578	1	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	SNP	0.999	A	A	62986578	G	A	62986578	3	1	176	1	0	0	0	0	1	0	0	0	15955	1145	40	1	1321	1	TLN2	15	62986578	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		62986578	39544814	58	12378											
GOLGA6C	653641	genome.wustl.edu	37	chr15	75557687	75557687	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcactaaaacaagtccagctAgagcgggacgaatatgctaa	9	9	1	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr15:75557687A>T	ENST00000300576.5	+	9	681	c.681A>T	c.(679-681)ctA>ctT	p.L227L		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	227						Golgi apparatus (GO:0005794)				ovary(1)	1						AAGTCCAGCTAGAGCGGGACG	0.552																																																	0								ENSG00000167195																																			GOLGA6C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.681A>T	15.37:g.75557687A>T		Somatic	1	181	0.54		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	77	57	57.46		Silent	SNP							NULL	p.L227	ENST00000300576.5	37	c.681	CCDS58388.1	15																																																																																			-	NULL		0.552	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	protein_coding	OTTHUMT00000419797.1	A	NM_001164404	-		75557687	1	no_errors	ENST00000300576	ensembl	human	known	74_37	silent	SNP	0.271	T	T	75557687	A	T	75557687	2	4	176	1	0	0	0	0	0	0	0	1	6561	407	15	5		5	GOLGA6C	15	75557687	Silent	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	12571109	75557687	26973705	59	12379											
WRAP53	55135	genome.wustl.edu	37	chr17	7592062	7592062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccccacgcttccccgatGaataaaaatgcggactctga	7	14	2	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:7592062G>A	ENST00000316024.5	+	1	2444	c.96G>A	c.(94-96)atG>atA	p.M32I	WRAP53_ENST00000457584.2_Missense_Mutation_p.M32I|TP53_ENST00000455263.2_5'Flank|WRAP53_ENST00000396463.2_Missense_Mutation_p.M32I|RP11-199F11.2_ENST00000571370.1_RNA|WRAP53_ENST00000431639.2_Missense_Mutation_p.M32I|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000534050.1_Missense_Mutation_p.M32I|TP53_ENST00000445888.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	32	Pro-rich.				positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CTTCCCCGATGAATAAAAATG	0.597																																																	0								ENSG00000141499						63	72	69					17																	7592062		2203	4300	6503	WRAP53	SO:0001583	missense	0			-	HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.96G>A	17.37:g.7592062G>A	ENSP00000324203:p.Met32Ile	Somatic	0	25	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	11	75.00	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M32I	ENST00000316024.5	37	c.96	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	G	9.077	0.998267	0.19043	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.69	5.41	2.27	0.28462	.	0.627975	0.15067	N	0.282449	T	0.27731	0.0682	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.08472	-1.0720	10	0.25751	T	0.34	0.2706	4.9498	0.14008	0.1838:0.1749:0.6413:0.0	.	32;32	E9PMG4;Q9BUR4	.;WAP53_HUMAN	I	32	ENSP00000397219:M32I;ENSP00000324203:M32I;ENSP00000411061:M32I;ENSP00000379727:M32I;ENSP00000434999:M32I	ENSP00000324203:M32I	M	+	3	0	WRAP53	7532787	0.250000	0.23951	0.004000	0.12327	0.035000	0.12851	1.916000	0.39986	1.524000	0.49035	0.563000	0.77884	ATG	-	NULL		0.597	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	G	NM_018081	-		7592062	1	no_errors	ENST00000316024	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7592062	G	A	7592062	3	1	176	1	0	0	0	0	1	0	0	0	17407	1290	45	2	98	2	WRAP53	17	7592062	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		7592062	73603148	60	12380											
DNAH2	146754	genome.wustl.edu	37	chr17	7724577	7724577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtacacctgccgtaccCttttcgaacgccacaaacta	6	16	0	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:7724577C>T	ENST00000572933.1	+	73	12492	c.11032C>T	c.(11032-11034)Ctt>Ttt	p.L3678F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L3678F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3678					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGCCGTACCCTTTTCGAACG	0.483																																																	0								ENSG00000183914						164	145	151					17																	7724577		2203	4300	6503	DNAH2	SO:0001583	missense	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11032C>T	17.37:g.7724577C>T	ENSP00000458355:p.Leu3678Phe	Somatic	0	39	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	50	25.37	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3678F	ENST00000572933.1	37	c.11032	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236793	0.79800	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.79352	-1.26	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000002	D	0.92146	0.7510	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94717	0.7897	10	0.72032	D	0.01	.	17.0513	0.86519	0.0:1.0:0.0:0.0	.	3639;3678	Q9P225-2;Q9P225	.;DYH2_HUMAN	F	3639;3678	ENSP00000373825:L3678F	ENSP00000353818:L3639F	L	+	1	0	DNAH2	7665302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.278000	0.65592	2.393000	0.81446	0.655000	0.94253	CTT	-	NULL		0.483	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	C	NM_020877	-		7724577	1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7724577	C	T	7724577	3	4	176	1	0	0	0	0	1	0	0	0	4604	681	24	2	11318	2	DNAH2	17	7724577	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	132515	7724577	73470633	61	12381											
EFCAB5	374786	genome.wustl.edu	37	chr17	28380437	28380437	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaaattattagaaagtccaGatcaacctaaacttaacgaa	5	7	1	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:28380437G>T	ENST00000394835.3	+	10	1657	c.1465G>T	c.(1465-1467)Gat>Tat	p.D489Y	EFCAB5_ENST00000541045.1_Missense_Mutation_p.D146Y|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D489Y|EFCAB5_ENST00000378738.3_Missense_Mutation_p.D489Y|EFCAB5_ENST00000394832.2_Missense_Mutation_p.D489Y|EFCAB5_ENST00000536908.2_Missense_Mutation_p.D433Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	489							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAAAGTCCAGATCAACCTAA	0.388																																																	0								ENSG00000176927						138	136	137					17																	28380437		1924	4120	6044	EFCAB5	SO:0001583	missense	0			-	HGNC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1465G>T	17.37:g.28380437G>T	ENSP00000378312:p.Asp489Tyr	Somatic	0	33	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.D489Y	ENST00000394835.3	37	c.1465	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680685	0.68042	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.51574	1.74;0.7;2.77;2.75;2.06;1.73;2.76	5.67	3.67	0.42095	.	0.659405	0.13589	N	0.376739	T	0.45357	0.1338	N	0.14661	0.345	0.18873	N	0.999986	D;D;D;D;B;D	0.65815	0.991;0.995;0.995;0.995;0.169;0.986	P;P;P;P;B;P	0.61201	0.77;0.885;0.742;0.834;0.091;0.742	T	0.23332	-1.0191	10	0.62326	D	0.03	-6.4469	7.4331	0.27139	0.0844:0.0:0.7502:0.1654	.	433;433;489;489;489;489	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Y	433;232;146;489;489;489;489;433;295	ENSP00000440619:D433Y;ENSP00000445575:D146Y;ENSP00000378312:D489Y;ENSP00000322003:D489Y;ENSP00000378309:D489Y;ENSP00000368012:D489Y;ENSP00000417009:D295Y	ENSP00000322003:D489Y	D	+	1	0	EFCAB5	25404563	0.995000	0.38212	0.059000	0.19551	0.372000	0.29890	1.180000	0.32005	0.844000	0.35094	0.655000	0.94253	GAT	-	NULL		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	protein_coding	OTTHUMT00000256120.4	G	NM_198529	-		28380437	1	no_errors	ENST00000394835	ensembl	human	known	74_37	missense	SNP	0.155	T	T	28380437	G	T	28380437	3	4	176	1	0	0	0	0	1	0	0	0	4940	942	33	3	1503	3	EFCAB5	17	28380437	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	20655860	28380437	52814773	62	12382											
EFCAB3	146779	genome.wustl.edu	37	chr17	60472473	60472473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggctggcaacccaggaAtcctattgtttgaaatccta	8	9	0	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:60472473A>G	ENST00000305286.3	+	6	490	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	EFCAB3_ENST00000450662.2_Missense_Mutation_p.I190V	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	138							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CAACCCAGGAATCCTATTGTT	0.368																																																	0								ENSG00000172421						117	124	121					17																	60472473		2203	4300	6503	EFCAB3	SO:0001583	missense	0			-	HGNC	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.412A>G	17.37:g.60472473A>G	ENSP00000302649:p.Ile138Val	Somatic	0	60	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	19	66.07	J3KQM8	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.I190V	ENST00000305286.3	37	c.568	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	A	8.812	0.935585	0.18206	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.60920	0.15;0.18;0.36;0.37	5.98	4.89	0.63831	.	0.096592	0.45126	D	0.000394	T	0.54111	0.1838	M	0.64997	1.995	0.28015	N	0.934763	P;B	0.48089	0.905;0.243	B;B	0.43536	0.423;0.079	T	0.52533	-0.8563	10	0.33141	T	0.24	.	9.3828	0.38325	0.841:0.0:0.0:0.159	.	138;138	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	V	190;138;138;138	ENSP00000403932:I190V;ENSP00000302649:I138V;ENSP00000429124:I138V;ENSP00000428626:I138V	ENSP00000302649:I138V	I	+	1	0	EFCAB3	57826205	0.975000	0.34042	0.970000	0.41538	0.013000	0.08279	2.321000	0.43805	1.056000	0.40484	-0.480000	0.04831	ATC	-	NULL		0.368	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	protein_coding	OTTHUMT00000379114.1	A	NM_173503	-		60472473	1	no_errors	ENST00000450662	ensembl	human	known	74_37	missense	SNP	0.997	G	G	60472473	A	G	60472473	3	3	176	1	0	0	0	0	1	0	0	0	4937	101	4	5	598	5	EFCAB3	17	60472473	Missense_Mutation	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	32092036	60472473	20722737	63	12383											
DNAI2	64446	genome.wustl.edu	37	chr17	72285741	72285741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcccctgcagggacccccAggaaatcaagagggctgcca	11	15	2	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:72285741A>G	ENST00000311014.6	+	5	543	c.476A>G	c.(475-477)cAg>cGg	p.Q159R	DNAI2_ENST00000446837.2_Missense_Mutation_p.Q159R|DNAI2_ENST00000579490.1_Missense_Mutation_p.Q216R|DNAI2_ENST00000307504.5_Missense_Mutation_p.Q16R|DNAI2_ENST00000582036.1_Missense_Mutation_p.Q159R			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	159					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGGACCCCCAGGAAATCAAG	0.547									Kartagener syndrome																																								0								ENSG00000171595						43	45	44					17																	72285741		2203	4300	6503	DNAI2	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.476A>G	17.37:g.72285741A>G	ENSP00000308312:p.Gln159Arg	Somatic	0	27	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	37.50	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.Q159R	ENST00000311014.6	37	c.476	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246730	0.39697	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.14516	2.5;2.5;2.5	5.14	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.191070	0.53938	D	0.000054	T	0.11024	0.0269	L	0.40543	1.245	0.33135	D	0.543598	B	0.20368	0.044	B	0.23275	0.045	T	0.18023	-1.0350	10	0.10111	T	0.7	-39.7616	11.3368	0.49509	0.8638:0.0:0.0:0.1362	.	159	Q9GZS0	DNAI2_HUMAN	R	159;16;159	ENSP00000308312:Q159R;ENSP00000302929:Q16R;ENSP00000400252:Q159R	ENSP00000302929:Q16R	Q	+	2	0	DNAI2	69797336	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.691000	0.74573	0.780000	0.33566	0.260000	0.18958	CAG	-	superfamily_WD40_repeat_dom		0.547	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	protein_coding	OTTHUMT00000442537.1	A	NM_023036	-		72285741	1	no_errors	ENST00000311014	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72285741	A	G	72285741	3	3	176	1	0	0	0	0	1	0	0	0	4612	188	7	5	490	5	DNAI2	17	72285741	Missense_Mutation	SNP	A	TCGA-KD-A5QU-01A-11D-A27P-09	11813268	72285741	8909469	64	12384											
EVPL	2125	genome.wustl.edu	37	chr17	74003381	74003381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctgcaggagctgggCcagctcttcactgatcatcc	10	15	3	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:74003381C>T	ENST00000301607.3	-	22	6158	c.5905G>A	c.(5905-5907)Gcc>Acc	p.A1969T	EVPL_ENST00000586740.1_Missense_Mutation_p.A1991T|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1969	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGAGCTGGGCCAGCTCTTCA	0.637																																																	0								ENSG00000167880						73	72	72					17																	74003381		2203	4300	6503	EVPL	SO:0001583	missense	0			-	HGNC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5905G>A	17.37:g.74003381C>T	ENSP00000301607:p.Ala1969Thr	Somatic	0	77	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	73	17.05	A0AUV5	Missense_Mutation	SNP							pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.A1969T	ENST00000301607.3	37	c.5905	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491365	0.84962	.	.	ENSG00000167880	ENST00000301607	T	0.78003	-1.14	5.48	5.48	0.80851	.	0.274240	0.36234	N	0.002712	D	0.85885	0.5801	M	0.78049	2.395	0.27634	N	0.947936	D;P	0.65815	0.995;0.904	P;P	0.59424	0.857;0.583	T	0.79075	-0.1952	10	0.15499	T	0.54	-20.223	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1991;1969	B7ZLH8;Q92817	.;EVPL_HUMAN	T	1969	ENSP00000301607:A1969T	ENSP00000301607:A1969T	A	-	1	0	EVPL	71514976	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.658000	0.37376	2.564000	0.86499	0.561000	0.74099	GCC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	C	NM_001988	-		74003381	-1	no_errors	ENST00000301607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74003381	C	T	74003381	3	4	176	1	0	0	0	0	1	0	0	0	5294	739	26	2	200	2	EVPL	17	74003381	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	1717640	74003381	7191829	65	12385											
AZI1	22994	genome.wustl.edu	37	chr17	79163639	79163639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcggcccgcttcaccGcagcctgcagcacacccaca	11	18	1	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr17:79163639G>A	ENST00000269392.4	-	26	3429	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	AZI1_ENST00000374782.3_Missense_Mutation_p.A1022V|AZI1_ENST00000450824.2_Missense_Mutation_p.A1058V|AZI1_ENST00000575907.1_Missense_Mutation_p.A1025V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1061					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGCTTCACCGCAGCCTGCAG	0.662																																																	0								ENSG00000141577						81	79	80					17																	79163639		2203	4299	6502	AZI1	SO:0001583	missense	0			-	HGNC																												ENST00000269392.4:c.3182C>T	17.37:g.79163639G>A	ENSP00000269392:p.Ala1061Val	Somatic	0	73	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	18	68.42	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP							superfamily_t-SNARE	p.A1061V	ENST00000269392.4	37	c.3182		17	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279425	0.59758	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17054	2.3;2.42;2.31	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.65498	2.005	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.951;0.993;0.989	T	0.21861	-1.0233	10	0.05721	T	0.95	-24.6645	16.7932	0.85595	0.0:0.0:1.0:0.0	.	1058;1061;1022;1058	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	1058;1022;1061	ENSP00000393583:A1058V;ENSP00000363914:A1022V;ENSP00000269392:A1061V	ENSP00000269392:A1061V	A	-	2	0	AZI1	76778234	1.000000	0.71417	0.232000	0.24009	0.193000	0.23685	8.934000	0.92915	2.278000	0.76064	0.609000	0.83330	GCG	-	NULL		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	protein_coding	OTTHUMT00000256070.1	G		-		79163639	-1	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	SNP	0.988	A	A	79163639	G	A	79163639	3	1	176	1	0	0	0	0	1	0	0	0	1240	1087	38	1	73	1	AZI1	17	79163639	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	5160258	79163639	2031571	66	12386											
ZNF681	148213	genome.wustl.edu	37	chr19	23927876	23927876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtgtgtcttaccttatgtCcatttaaatttgaaaattta	6	5	1	1			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr19:23927876C>T	ENST00000402377.3	-	4	617	c.476G>A	c.(475-477)gGa>gAa	p.G159E	ZNF681_ENST00000395385.3_Missense_Mutation_p.G90E	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	159					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TACCTTATGTCCATTTAAATT	0.259																																																	0								ENSG00000196172						20	21	21					19																	23927876		2186	4280	6466	ZNF681	SO:0001583	missense	0			-	HGNC	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.476G>A	19.37:g.23927876C>T	ENSP00000384000:p.Gly159Glu	Somatic	0	19	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	B3KVF7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G159E	ENST00000402377.3	37	c.476	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	4.313	0.057323	0.08339	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.27256	1.68;1.68;2.52;1.68	1.27	-2.54	0.06307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.07818	0.0196	N	0.03903	-0.33	0.09310	N	1	B	0.19073	0.033	B	0.14578	0.011	T	0.35773	-0.9775	9	0.16896	T	0.51	.	2.2928	0.04143	0.4325:0.3429:0.0:0.2246	.	159	Q96N22	ZN681_HUMAN	E	159;90;90;90	ENSP00000384000:G159E;ENSP00000378783:G90E;ENSP00000433806:G90E;ENSP00000435824:G90E	ENSP00000378783:G90E	G	-	2	0	ZNF681	23719716	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.390000	0.00487	-0.194000	0.10399	-0.671000	0.03813	GGA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.259	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	protein_coding	OTTHUMT00000320248.2	C	NM_138286	-		23927876	-1	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	SNP	0.001	T	T	23927876	C	T	23927876	3	4	176	1	0	0	0	0	1	0	0	0	18095	855	30	2	1465	2	ZNF681	19	23927876	Missense_Mutation	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09		23927876	35201107	67	12387											
PSG1	5669	genome.wustl.edu	37	chr19	43375964	43375964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcggctggcactcactgGgttccgtatttcacattcat	9	12	3	0	rs374973420		TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr19:43375964G>T	ENST00000436291.2	-	3	780	c.664C>A	c.(664-666)Cca>Aca	p.P222T	PSG1_ENST00000595356.1_Missense_Mutation_p.P222T|PSG1_ENST00000244296.2_Missense_Mutation_p.P222T|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.P222T|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	222	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCACTCACTGGGTTCCGTATT	0.517																																																	0								ENSG00000231924	G	THR/PRO,THR/PRO,THR/PRO	1,4401		0,1,2200	198	207	204		664,664,664	1.6	0	19		204	0,8592		0,0,4296	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	38,38,38	0,1,6496	TT,TG,GG		0.0,0.0227,0.0077	,,	222/420,222/418,222/427	43375964	1,12993	2201	4296	6497	PSG1	SO:0001583	missense	0			-	HGNC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.664C>A	19.37:g.43375964G>T	ENSP00000413041:p.Pro222Thr	Somatic	0	175	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	111	23.45	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P222T	ENST00000436291.2	37	c.664	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	8.095	0.775354	0.16051	2.27E-4	0.0	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.11169	2.8;2.8;2.8	1.64	1.64	0.23874	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19805	0.0476	L	0.58428	1.81	0.09310	N	1	B;B;B;P;P;B;B;P	0.39424	0.12;0.052;0.45;0.661;0.673;0.045;0.012;0.55	B;B;P;P;B;B;B;B	0.52159	0.362;0.062;0.472;0.691;0.36;0.1;0.054;0.273	T	0.10800	-1.0614	9	0.72032	D	0.01	.	6.6584	0.23000	0.0:0.0:1.0:0.0	.	222;222;222;222;222;94;222;222	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	T	222	ENSP00000413041:P222T;ENSP00000308970:P222T;ENSP00000244296:P222T	ENSP00000244296:P222T	P	-	1	0	PSG1	48067804	0.108000	0.22018	0.007000	0.13788	0.020000	0.10135	0.992000	0.29667	0.911000	0.36747	0.184000	0.17185	CCA	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.517	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	protein_coding	OTTHUMT00000321426.1	G		-		43375964	-1	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	SNP	0.006	T	T	43375964	G	T	43375964	3	4	176	1	0	0	0	0	1	0	0	0	12658	1232	43	3	664	3	PSG1	19	43375964	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	19448088	43375964	15753019	68	12388											
CD3EAP	10849	genome.wustl.edu	37	chr19	45910444	45910444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggaggcgctgacgggtccaGatacggagctgtggcttatt	16	8	0	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr19:45910444G>A	ENST00000309424.3	+	2	603	c.115G>A	c.(115-117)Gat>Aat	p.D39N	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000360957.5_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.D41N	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	39					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GACGGGTCCAGATACGGAGCT	0.597																																																	0								ENSG00000117877						66	65	66					19																	45910444		2203	4300	6503	CD3EAP	SO:0001583	missense	0			-	HGNC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.115G>A	19.37:g.45910444G>A	ENSP00000310966:p.Asp39Asn	Somatic	0	55	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP							pfam_DNA-dir_RNA_pol1_su_RPA34	p.D41N	ENST00000309424.3	37	c.121	CCDS12661.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947226	0.73672	.	.	ENSG00000117877	ENST00000309424	T	0.12879	2.64	5.19	4.15	0.48705	.	0.386185	0.25578	N	0.029717	T	0.28665	0.0710	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.974;0.985	T	0.02352	-1.1172	10	0.54805	T	0.06	-19.5003	8.6779	0.34189	0.1017:0.0:0.8983:0.0	.	41;39	O15446-2;O15446	.;RPA34_HUMAN	N	39	ENSP00000310966:D39N	ENSP00000310966:D39N	D	+	1	0	CD3EAP	50602284	0.117000	0.22190	0.370000	0.25965	0.707000	0.40811	1.605000	0.36815	2.410000	0.81850	0.561000	0.74099	GAT	-	pfam_DNA-dir_RNA_pol1_su_RPA34		0.597	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	protein_coding	OTTHUMT00000459538.1	G	NM_012099	-		45910444	1	no_errors	ENST00000589804	ensembl	human	known	74_37	missense	SNP	0.022	A	A	45910444	G	A	45910444	3	1	176	1	0	0	0	0	1	0	0	0	3014	942	33	2	121	2	CD3EAP	19	45910444	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	2534480	45910444	13218539	69	12389											
KLK11	11012	genome.wustl.edu	37	chr19	51525868	51525868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtgtagacaccaggcTttcgggtgatcgcacacgga	12	11	0	2			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr19:51525868T>A	ENST00000594768.1	-	6	967	c.782A>T	c.(781-783)aAg>aTg	p.K261M	KLK10_ENST00000358789.3_5'Flank|KLK11_ENST00000319720.7_Missense_Mutation_p.K229M|KLK11_ENST00000391804.3_Missense_Mutation_p.K254M|KLK10_ENST00000391805.1_5'Flank|KLK10_ENST00000309958.3_5'Flank|KLK11_ENST00000600362.1_Missense_Mutation_p.K88M|KLK11_ENST00000453757.3_Missense_Mutation_p.K229M|KLK11_ENST00000594458.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	261	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GACACCAGGCTTTCGGGTGAT	0.572																																																	0								ENSG00000167757						166	154	158					19																	51525868		2203	4300	6503	KLK11	SO:0001583	missense	0			-	HGNC	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.782A>T	19.37:g.51525868T>A	ENSP00000473047:p.Lys261Met	Somatic	0	26	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.K261M	ENST00000594768.1	37	c.782	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	t	18.51	3.638683	0.67130	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.89617	-2.54;-2.54;-2.54	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38436	U	0.001694	D	0.91885	0.7431	L	0.55481	1.735	0.39610	D	0.969865	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.92019	0.5624	10	0.48119	T	0.1	.	11.6586	0.51332	0.0:0.0:0.0:1.0	.	261;254	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	M	254;229;229;261	ENSP00000375680:K254M;ENSP00000324269:K229M;ENSP00000413958:K229M	ENSP00000324269:K229M	K	-	2	0	KLK11	56217680	1.000000	0.71417	0.969000	0.41365	0.605000	0.37080	3.805000	0.55575	1.869000	0.54173	0.254000	0.18369	AAG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.572	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	protein_coding	OTTHUMT00000464314.2	T	NM_006853	-		51525868	-1	no_errors	ENST00000594768	ensembl	human	known	74_37	missense	SNP	0.998	A	A	51525868	T	A	51525868	3	1	176	1	0	0	0	0	1	0	0	0	8401	1609	56	5	70	5	KLK11	19	51525868	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09	5615424	51525868	7603115	70	12390											
PIWIL3	440822	genome.wustl.edu	37	chr22	25124262	25124262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaccacacactggcttGgaattgggcatttggtacat	9	9	1	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr22:25124262G>T	ENST00000332271.5	-	15	2230	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.P487Q|PIWIL3_ENST00000527701.1_Missense_Mutation_p.P487Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	605	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACACTGGCTTGGAATTGGGCA	0.443																																																	0								ENSG00000184571						229	209	216					22																	25124262		2203	4300	6503	PIWIL3	SO:0001583	missense	0			-	HGNC	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1814C>A	22.37:g.25124262G>T	ENSP00000330031:p.Pro605Gln	Somatic	0	70	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	92	18.58		Missense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.P605Q	ENST00000332271.5	37	c.1814	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906744	0.52333	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.19105	2.17;2.17;2.17	2.57	1.51	0.23008	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.064533	0.64402	U	0.000006	T	0.43255	0.1239	M	0.84156	2.68	0.54753	D	0.999987	D;P;D	0.89917	1.0;0.95;0.999	D;P;D	0.97110	1.0;0.876;0.986	T	0.29822	-0.9999	10	0.66056	D	0.02	-5.6034	7.199	0.25871	0.1463:0.0:0.8537:0.0	.	487;596;605	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	605;487;487	ENSP00000330031:P605Q;ENSP00000431843:P487Q;ENSP00000435718:P487Q	ENSP00000330031:P605Q	P	-	2	0	PIWIL3	23454262	1.000000	0.71417	0.667000	0.29798	0.032000	0.12392	4.687000	0.61708	0.426000	0.26116	0.491000	0.48974	CCA	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.443	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	protein_coding	OTTHUMT00000320084.2	G	NM_001008496	-		25124262	-1	no_errors	ENST00000332271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25124262	G	T	25124262	3	4	176	1	0	0	0	0	1	0	0	0	11961	1348	47	3	862	3	PIWIL3	22	25124262	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09		25124262	26180304	71	12391											
SEZ6L	23544	genome.wustl.edu	37	chr22	26701984	26701984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaatgccaccatcggccGcgtcctctccccaagttacc	7	19	1	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chr22:26701984G>A	ENST00000248933.6	+	6	1483	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	SEZ6L_ENST00000404234.3_Missense_Mutation_p.R463H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R463H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R463H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R236H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R236H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R463H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	463	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCATCGGCCGCGTCCTCTCC	0.572																																																	0								ENSG00000100095						74	67	69					22																	26701984		2203	4300	6503	SEZ6L	SO:0001583	missense	0			-	HGNC	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1388G>A	22.37:g.26701984G>A	ENSP00000248933:p.Arg463His	Somatic	0	30	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	32.56	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R463H	ENST00000248933.6	37	c.1388	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350666	0.61183	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.86	3.85	0.44370	CUB (5);	0.000000	0.49916	D	0.000128	T	0.48909	0.1526	L	0.53671	1.685	0.80722	D	1	B;B;D;P;B;B;B	0.89917	0.194;0.344;1.0;0.581;0.439;0.344;0.344	B;B;D;B;B;B;B	0.91635	0.061;0.091;0.999;0.123;0.123;0.091;0.091	T	0.50915	-0.8771	10	0.87932	D	0	.	12.3347	0.55060	0.0806:0.0:0.9194:0.0	.	463;463;236;463;463;463;463	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	H	463;463;463;463;463;236;236	ENSP00000384772:R463H;ENSP00000437037:R463H;ENSP00000354185:R463H;ENSP00000248933:R463H;ENSP00000342661:R463H;ENSP00000384838:R236H;ENSP00000384733:R236H	ENSP00000248933:R463H	R	+	2	0	SEZ6L	25031984	1.000000	0.71417	0.898000	0.35279	0.913000	0.54294	6.989000	0.76219	1.284000	0.44531	0.655000	0.94253	CGC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	G		-		26701984	1	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	SNP	0.995	A	A	26701984	G	A	26701984	3	1	176	1	0	0	0	0	1	0	0	0	14151	1087	38	1	1410	1	SEZ6L	22	26701984	Missense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	1577722	26701984	24602582	72	12392											
AR	367	genome.wustl.edu	37	chrX	66765152	66765152	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctcccggcgccagtttgcTgctgctgcagcagcagcagc	12	16	0	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chrX:66765152T>A	ENST00000374690.3	+	1	688	c.164T>A	c.(163-165)cTg>cAg	p.L55Q	AR_ENST00000504326.1_Missense_Mutation_p.L55Q|AR_ENST00000396044.3_Missense_Mutation_p.L55Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	55	Modulating.|Poly-Leu.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCCAGTTTGCTGCTGCTgcag	0.662									Androgen Insensitivity Syndrome																																								0								ENSG00000169083						11	14	13					X																	66765152		2169	4252	6421	AR	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.164T>A	X.37:g.66765152T>A	ENSP00000363822:p.Leu55Gln	Somatic	0	24	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP							pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.L55Q	ENST00000374690.3	37	c.164	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	N	7.392	0.630975	0.14322	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.58797	0.31;0.31;0.31	.	.	.	.	0.268702	0.26919	N	0.021823	T	0.26666	0.0652	N	0.08118	0	0.09310	N	0.999996	B;B	0.17852	0.006;0.024	B;B	0.04013	0.0;0.001	T	0.17107	-1.0380	8	0.10111	T	0.7	.	.	.	.	.	55;55	E7EVX6;D3YPQ2	.;.	Q	55	ENSP00000363822:L55Q;ENSP00000421155:L55Q;ENSP00000379359:L55Q	ENSP00000363822:L55Q	L	+	2	0	AR	66681877	0.998000	0.40836	0.922000	0.36590	0.480000	0.33159	0.009000	0.13219	0.000000	0.14550	0.000000	0.15137	CTG	-	pfam_Andrgn_rcpt		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	T	NM_000044	-		66765152	1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	SNP	0.960	A	A	66765152	T	A	66765152	3	1	176	1	0	0	0	0	1	0	0	0	836	1580	55	5	166	5	AR	23	66765152	Missense_Mutation	SNP	T	TCGA-KD-A5QU-01A-11D-A27P-09		66765152	88505408	73	12393											
ATRX	546	genome.wustl.edu	37	chrX	76912104	76912104	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taacttcttcactaactcctGattcctgaaaatcagaatct	3	11	4	3			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chrX:76912104G>C	ENST00000373344.5	-	13	4374	c.4160C>G	c.(4159-4161)tCa>tGa	p.S1387*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1349*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1387					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACTAACTCCTGATTCCTGAAA	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						66	59	61					X																	76912104		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4160C>G	X.37:g.76912104G>C	ENSP00000362441:p.Ser1387*	Somatic	0	135	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	80	49.37	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1387*	ENST00000373344.5	37	c.4160	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	46	12.258433	0.99651	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.863	17.5287	0.87808	0.0:0.0:1.0:0.0	.	.	.	.	X	1387;1349;1314	.	ENSP00000362441:S1387X	S	-	2	0	ATRX	76798760	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.130000	0.71663	2.167000	0.68274	0.544000	0.68410	TCA	-	NULL		0.284	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76912104	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	C	C	76912104	G	C	76912104	4	2	176	1	0	0	0	0	0	1	0	0	1208	1294	45	4	3410	4	ATRX	23	76912104	Nonsense_Mutation	SNP	G	TCGA-KD-A5QU-01A-11D-A27P-09	10146952	76912104	78358456	74	12394											
MPP1	4354	genome.wustl.edu	37	chrX	154020552	154020552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagtattcaatggatgCgatacagcctgccaagccaa	9	11	2	0			TCGA-KD-A5QU-01A-11D-A27P-09	TCGA-KD-A5QU-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20e81635-4d39-4b8f-aec6-3f96bc5d82ac	19773673-43e9-4c0d-acb8-9677ef088dcd	g.chrX:154020552C>T	ENST00000369534.3	-	2	258	c.111G>A	c.(109-111)tcG>tcA	p.S37S	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Silent_p.S37S|MPP1_ENST00000413259.3_Silent_p.S7S	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	37					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAATGGATGCGATACAGCCT	0.532																																																	0								ENSG00000130830						74	62	66					X																	154020552		2203	4300	6503	MPP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.111G>A	X.37:g.154020552C>T		Somatic	0	16	0		0.625734668885349				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	5	54.55	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP							NULL	p.R87H	ENST00000369534.3	37	c.260	CCDS14762.1	X																																																																																			-	NULL		0.532	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP1	protein_coding	OTTHUMT00000061191.3	C	NM_002436	-		154020552	-1	no_errors	ENST00000417435	ensembl	human	known	74_37	missense	SNP	0.000	T	T	154020552	C	T	154020552	2	4	176	1	0	0	0	0	0	0	0	1	9735	755	27	1		1	MPP1	23	154020552	Silent	SNP	C	TCGA-KD-A5QU-01A-11D-A27P-09	77108448	154020552	1250008	75	12395											
SKI	6497	genome.wustl.edu	37	chr1	2235296	2235296	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcttctactcctacaagaGctttgagacagccgtggcgc	10	13	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr1:2235296G>C	ENST00000378536.4	+	4	1301	c.1229G>C	c.(1228-1230)aGc>aCc	p.S410T		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	410					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCCTACAAGAGCTTTGAGACA	0.687																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0								ENSG00000157933						13	17	16					1																	2235296		2134	4206	6340	SKI	SO:0001583	missense	0			-	HGNC	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1229G>C	1.37:g.2235296G>C	ENSP00000367797:p.Ser410Thr	Somatic	0	74	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	113	40.21	Q5SYT7	Missense_Mutation	SNP							pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.S410T	ENST00000378536.4	37	c.1229	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358057	0.41801	.	.	ENSG00000157933	ENST00000378536	D	0.95949	-3.86	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	L	0.50333	1.59	0.44485	D	0.997428	D	0.67145	0.996	P	0.57620	0.824	D	0.93131	0.6533	10	0.06891	T	0.86	-20.2775	16.7915	0.85590	0.0:0.0:1.0:0.0	.	410	P12755	SKI_HUMAN	T	410	ENSP00000367797:S410T	ENSP00000367797:S410T	S	+	2	0	SKI	2225156	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.950000	0.70265	2.264000	0.75181	0.561000	0.74099	AGC	-	NULL		0.687	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	protein_coding	OTTHUMT00000004070.1	G	NM_003036	-		2235296	1	no_errors	ENST00000378536	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2235296	G	C	2235296	3	2	177	1	0	0	0	0	1	0	0	0	14365	971	34	4	1243	4	SKI	1	2235296	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		2235296	247015325	1	12396											
SKI	6497	genome.wustl.edu	37	chr1	2235884	2235884	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgggctggaggcggagctgGagcacctgcggcaggcactg	20	10	0	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr1:2235884G>C	ENST00000378536.4	+	5	1699	c.1627G>C	c.(1627-1629)Gag>Cag	p.E543Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	543					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGCGGAGCTGGAGCACCTGCG	0.692																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0								ENSG00000157933						22	19	20					1																	2235884		2164	4272	6436	SKI	SO:0001583	missense	0			-	HGNC	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1627G>C	1.37:g.2235884G>C	ENSP00000367797:p.Glu543Gln	Somatic	0	61	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	112	36.72	Q5SYT7	Missense_Mutation	SNP							pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.E543Q	ENST00000378536.4	37	c.1627	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919669	0.52653	.	.	ENSG00000157933	ENST00000378536	D	0.96300	-3.97	4.37	4.37	0.52481	.	0.122854	0.52532	D	0.000061	D	0.96784	0.8950	M	0.62723	1.935	0.45747	D	0.998646	D	0.60575	0.988	P	0.57204	0.815	D	0.96301	0.9221	10	0.40728	T	0.16	-17.8688	16.0534	0.80777	0.0:0.0:1.0:0.0	.	543	P12755	SKI_HUMAN	Q	543	ENSP00000367797:E543Q	ENSP00000367797:E543Q	E	+	1	0	SKI	2225744	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.547000	0.82146	2.249000	0.74217	0.561000	0.74099	GAG	-	NULL		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	protein_coding	OTTHUMT00000004070.1	G	NM_003036	-		2235884	1	no_errors	ENST00000378536	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2235884	G	C	2235884	3	2	177	1	0	0	0	0	1	0	0	0	14365	1175	41	4	1645	4	SKI	1	2235884	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	588	2235884	247014737	2	12397											
SYCP1	6847	genome.wustl.edu	37	chr1	115487553	115487553	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagaaagaaattgataagCgatgtcaacataaaatagct	7	5	1	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr1:115487553C>T	ENST00000369522.3	+	25	2344	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.R702*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	702					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R702*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AATTGATAAGCGATGTCAACA	0.249																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000198765						39	40	40					1																	115487553		2201	4285	6486	SYCP1	SO:0001587	stop_gained	0			-	HGNC	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2104C>T	1.37:g.115487553C>T	ENSP00000358535:p.Arg702*	Somatic	0	44	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	O14963|Q5VXJ6	Nonsense_Mutation	SNP							pfam_SCP-1	p.R702*	ENST00000369522.3	37	c.2104	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.826235	0.96996	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.91	3.9	0.45041	.	0.080155	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3104	15.5178	0.75840	0.1479:0.8521:0.0:0.0	.	.	.	.	X	702	.	ENSP00000358531:R702X	R	+	1	2	SYCP1	115289076	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	1.957000	0.40392	2.268000	0.75426	0.650000	0.86243	CGA	-	pfam_SCP-1		0.249	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	protein_coding	OTTHUMT00000033386.1	C	NM_003176	-		115487553	1	no_errors	ENST00000369518	ensembl	human	known	74_37	nonsense	SNP	0.985	T	T	115487553	C	T	115487553	4	4	177	1	0	0	0	0	0	1	0	0	15438	760	27	1	2198	1	SYCP1	1	115487553	Nonsense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	113251669	115487553	133763068	3	12398											
ANKRD35	148741	genome.wustl.edu	37	chr1	145561425	145561425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggatggcatggagcaGggttgtcctaaggacctgct	18	7	0	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr1:145561425G>A	ENST00000355594.4	+	10	1200	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	371										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCATGGAGCAGGGTTGTCCTA	0.572																																					Melanoma(9;127 754 22988 51047)												0								ENSG00000198483						37	39	38					1																	145561425		2203	4300	6503	ANKRD35	SO:0001819	synonymous_variant	0			-	HGNC	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1113G>A	1.37:g.145561425G>A		Somatic	0	21	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q371	ENST00000355594.4	37	c.1113	CCDS919.1	1																																																																																			-	NULL		0.572	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	protein_coding	OTTHUMT00000038515.1	G	NM_144698	-		145561425	1	no_errors	ENST00000355594	ensembl	human	known	74_37	silent	SNP	0.999	A	A	145561425	G	A	145561425	2	1	177	1	0	0	0	0	0	0	0	1	664	991	35	2		2	ANKRD35	1	145561425	Silent	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	30073872	145561425	103689196	4	12399											
SPTA1	6708	genome.wustl.edu	37	chr1	158585053	158585053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcatccgcaacccaagCtggtagagctggtcccactg	11	13	0	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr1:158585053C>T	ENST00000368147.4	-	48	6921	c.6741G>A	c.(6739-6741)caG>caA	p.Q2247Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2247					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACCCAAGCTGGTAGAGCT	0.542																																																	0								ENSG00000163554						153	161	158					1																	158585053		2119	4244	6363	SPTA1	SO:0001819	synonymous_variant	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6741G>A	1.37:g.158585053C>T		Somatic	0	111	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	76	27.62	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q2247	ENST00000368147.4	37	c.6741	CCDS41423.1	1																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	C	NM_003126	-		158585053	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	SNP	1.000	T	T	158585053	C	T	158585053	2	4	177	1	0	0	0	0	0	0	0	1	15123	796	28	2		2	SPTA1	1	158585053	Silent	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	13023628	158585053	90665568	5	12400											
FAM5C	339479	genome.wustl.edu	37	chr1	190234179	190234179	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaaattgtgagtgacTcctctcctgcattaataata	5	10	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr1:190234179T>A	ENST00000367462.3	-	4	665	c.434A>T	c.(433-435)gAg>gTg	p.E145V	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Missense_Mutation_p.E43V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	145	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)											TGTGAGTGACTCCTCTCCTGC	0.378																																																	0								ENSG00000162670						73	62	66					1																	190234179		2203	4300	6503	BRINP3	SO:0001583	missense	0			-	HGNC	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.434A>T	1.37:g.190234179T>A	ENSP00000356432:p.Glu145Val	Somatic	0	47	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	23	52.94	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.E145V	ENST00000367462.3	37	c.434	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240724	0.79912	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	D;T	0.82984	-1.67;1.55	5.6	5.6	0.85130	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	M	0.76328	2.33	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.91325	0.5085	10	0.87932	D	0	.	13.7472	0.62883	0.0:0.0:0.0:1.0	.	43;145	B7Z260;Q76B58	.;FAM5C_HUMAN	V	145;43	ENSP00000356432:E145V;ENSP00000438022:E43V	ENSP00000356432:E145V	E	-	2	0	FAM5C	188500802	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.539000	0.82063	2.133000	0.65898	0.477000	0.44152	GAG	-	pfam_MACPF,smart_MACPF		0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	protein_coding	OTTHUMT00000086278.1	T	NM_199051	-		190234179	-1	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	SNP	1.000	A	A	190234179	T	A	190234179	3	1	177	1	0	0	0	0	1	0	0	0	5596	1551	54	5	1886	5	FAM5C	1	190234179	Missense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09	31649126	190234179	59016442	6	12401											
C2orf50	130813	genome.wustl.edu	37	chr2	11284204	11284204	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcacagaaggggcccggaaGaagaagctggaggaccagat	15	8	1	4			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr2:11284204G>A	ENST00000381585.3	+	3	738	c.456G>A	c.(454-456)aaG>aaA	p.K152K	C2orf50_ENST00000405022.3_Silent_p.K152K			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	152										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GGGCCCGGAAGAAGAAGCTGG	0.612																																																	0								ENSG00000150873						42	41	41					2																	11284204		2203	4300	6503	C2orf50	SO:0001819	synonymous_variant	0			-	HGNC	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.456G>A	2.37:g.11284204G>A		Somatic	0	38	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A8K9W3|D6W503	Silent	SNP							NULL	p.K152	ENST00000381585.3	37	c.456	CCDS1678.1	2																																																																																			-	NULL		0.612	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf50	protein_coding	OTTHUMT00000239268.1	G	NM_182500	-		11284204	1	no_errors	ENST00000381585	ensembl	human	known	74_37	silent	SNP	1.000	A	A	11284204	G	A	11284204	2	1	177	1	0	0	0	0	0	0	0	1	2174	933	33	2		2	C2orf50	2	11284204	Silent	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		11284204	231915169	7	12402											
DPYSL5	56896	genome.wustl.edu	37	chr2	27121387	27121387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcttgccaactcagccaGcgtgaggatcctcatcaagg	10	13	3	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr2:27121387G>T	ENST00000288699.6	+	2	178	c.20G>T	c.(19-21)aGc>aTc	p.S7I	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S7I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	7					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTCAGCCAGCGTGAGGATC	0.547																																																	0								ENSG00000157851						222	202	209					2																	27121387		2203	4300	6503	DPYSL5	SO:0001583	missense	0			-	HGNC	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.20G>T	2.37:g.27121387G>T	ENSP00000288699:p.Ser7Ile	Somatic	0	54	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	58	19.44	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP							pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.S7I	ENST00000288699.6	37	c.20	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644399	0.47258	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.86097	-1.16;-2.07;-2.07;-1.16;-1.16	4.61	4.61	0.57282	Metal-dependent hydrolase, composite domain (1);	0.135724	0.64402	D	0.000004	D	0.84165	0.5412	L	0.47190	1.495	0.34278	D	0.681772	B	0.29988	0.264	B	0.40066	0.318	D	0.89090	0.3482	10	0.87932	D	0	-29.0347	13.0768	0.59091	0.0:0.1627:0.8373:0.0	.	7	Q9BPU6	DPYL5_HUMAN	I	7	ENSP00000407174:S7I;ENSP00000288699:S7I;ENSP00000385549:S7I;ENSP00000399581:S7I;ENSP00000413075:S7I	ENSP00000288699:S7I	S	+	2	0	DPYSL5	26974891	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.197000	0.51028	2.286000	0.76751	0.561000	0.74099	AGC	-	superfamily_Metal-dep_hydrolase_composite		0.547	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	protein_coding	OTTHUMT00000214187.2	G	NM_020134	-		27121387	1	no_errors	ENST00000288699	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27121387	G	T	27121387	3	4	177	1	0	0	0	0	1	0	0	0	4752	971	34	3	22	3	DPYSL5	2	27121387	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	15837183	27121387	216077986	8	12403											
KRCC1	51315	genome.wustl.edu	37	chr2	88327723	88327723	+	Frame_Shift_Del	DEL	A	A	-													caaatatattcttgttgattAaagttcaggggtactggttt							TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr2:88327723delA	ENST00000347055.3	-	4	753	c.360delT	c.(358-360)tttfs	p.F120fs		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	120										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTTGTTGATTAAAGTTCAGGG	0.433																																																	0								ENSG00000172086						110	113	112					2																	88327723		2203	4300	6503	KRCC1	SO:0001589	frameshift_variant	0				HGNC	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.360delT	2.37:g.88327723delA	ENSP00000340083:p.Phe120fs	Somatic	0	77	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	90	10.89	Q3B7J7	Frame_Shift_Del	DEL							NULL	p.F120fs	ENST00000347055.3	37	c.360	CCDS2000.1	2																																																																																			-	NULL		0.433	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRCC1	protein_coding	OTTHUMT00000252664.1	A	NM_016618			88327723	-1	no_errors	ENST00000347055	ensembl	human	known	74_37	frame_shift_del	DEL	0.004	-	-	88327723	A	-	88327723	7	5	177	1	0	1	0	1	0	0	0	0	8443	359	13	0	423	0	KRCC1	2	88327723	Frame_Shift_Del	DEL	A	TCGA-KF-A41W-01A-11D-A24N-09	61206336	88327723	154871650	9	12404											
SCRN3	79634	genome.wustl.edu	37	chr2	175292593	175292593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaaattcaaatttatcaGtcaaatttatcagtcaaagt	5	5	5	1	rs145699077|rs79038555	byFrequency	TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr2:175292593G>T	ENST00000272732.6	+	8	1327	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.Q408H	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	415							dipeptidase activity (GO:0016805)	p.N417fs*>4(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAATTTATCAGTCAAATTTAT	0.323																																																	1	Deletion - Frameshift(1)	urinary_tract(1)						ENSG00000144306						67	56	60					2																	175292593		2203	4290	6493	SCRN3	SO:0001583	missense	0			-	HGNC	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1245G>T	2.37:g.175292593G>T	ENSP00000272732:p.Gln415His	Somatic	0	39	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP							pfam_Peptidase_C69	p.Q415H	ENST00000272732.6	37	c.1245	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432315	0.43122	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08546	3.08;3.08	5.63	1.87	0.25490	.	1.083350	0.06890	N	0.804042	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B;B	0.30709	0.291;0.052	B;B	0.28232	0.087;0.054	T	0.43845	-0.9366	9	.	.	.	0.6761	2.0969	0.03670	0.284:0.1694:0.4342:0.1123	.	408;415	B4DI11;Q0VDG4	.;SCRN3_HUMAN	H	408;415	ENSP00000387142:Q408H;ENSP00000272732:Q415H	.	Q	+	3	2	SCRN3	175000839	0.002000	0.14202	0.113000	0.21522	0.782000	0.44232	-0.109000	0.10840	0.338000	0.23692	-0.140000	0.14226	CAG	-	NULL		0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	protein_coding	OTTHUMT00000255451.2	G	NM_024583	rs79038555		175292593	1	no_errors	ENST00000272732	ensembl	human	known	74_37	missense	SNP	0.001	T	T	175292593	G	T	175292593	3	4	177	1	0	0	0	0	1	0	0	0	13948	1020	36	3	1271	3	SCRN3	2	175292593	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	86964870	175292593	67906780	10	12405											
CELSR3	1951	genome.wustl.edu	37	chr3	48697124	48697124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggtcagtggctgagatctGcaggacactggtgaaaggtg	16	8	2	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr3:48697124G>T	ENST00000164024.4	-	1	3224	c.2944C>A	c.(2944-2946)Cag>Aag	p.Q982K	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q982K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	982	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		GCTGAGATCTGCAGGACACTG	0.532																																																	0								ENSG00000008300						62	61	61					3																	48697124		2203	4300	6503	CELSR3	SO:0001583	missense	0			-	HGNC	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.2944C>A	3.37:g.48697124G>T	ENSP00000164024:p.Gln982Lys	Somatic	0	64	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	72	20.88	O75092	Missense_Mutation	SNP							pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.Q982K	ENST00000164024.4	37	c.2944	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946335	0.73672	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01665	4.7;4.7	5.78	5.78	0.91487	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.07593	0.0191	L	0.39692	1.235	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.984;0.995	T	0.28332	-1.0047	9	0.49607	T	0.09	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	982;1052	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	982	ENSP00000164024:Q982K;ENSP00000445694:Q982K	ENSP00000164024:Q982K	Q	-	1	0	CELSR3	48672128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.733000	0.93635	0.561000	0.74099	CAG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	G	NM_001407	-		48697124	-1	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48697124	G	T	48697124	3	4	177	1	0	0	0	0	1	0	0	0	3225	1328	46	3	7134	3	CELSR3	3	48697124	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		48697124	149325306	11	12406											
LRTM1	57408	genome.wustl.edu	37	chr3	54952665	54952665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgatgatgacagtggCaatggcatgacgcaggttgg	16	7	0	4	rs200994023		TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr3:54952665C>A	ENST00000273286.5	-	3	1021	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A211S|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	287						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATGACAGTGGCAATGGCATGA	0.577																																																	0								ENSG00000144771	C	SER/ALA,	0,4406		0,0,2203	170	123	139		859,	5.6	0.3	3		139	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CACNA2D3,LRTM1	NM_020678.2,NM_018398.2	99,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,	287/346,	54952665	1,13005	2203	4300	6503	LRTM1	SO:0001583	missense	0			-	HGNC	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.859G>T	3.37:g.54952665C>A	ENSP00000273286:p.Ala287Ser	Somatic	0	48	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.86	Q8IUU2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A287S	ENST00000273286.5	37	c.859	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848636	0.71603	0.0	1.16E-4	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.54279	0.58;0.95	5.64	5.64	0.86602	.	0.051485	0.85682	D	0.000000	T	0.64046	0.2563	M	0.78049	2.395	0.58432	D	0.999999	D	0.56035	0.974	P	0.47673	0.554	T	0.67530	-0.5647	10	0.48119	T	0.1	.	19.6909	0.96000	0.0:1.0:0.0:0.0	.	287	Q9HBL6	LRTM1_HUMAN	S	287;211	ENSP00000273286:A287S;ENSP00000419772:A211S	ENSP00000273286:A287S	A	-	1	0	LRTM1	54927705	1.000000	0.71417	0.291000	0.24904	0.082000	0.17680	7.472000	0.80996	2.643000	0.89663	0.561000	0.74099	GCC	-	NULL		0.577	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	protein_coding	OTTHUMT00000351399.1	C	NM_020678	rs200994023		54952665	-1	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54952665	C	A	54952665	3	1	177	1	0	0	0	0	1	0	0	0	9046	710	25	3	182	3	LRTM1	3	54952665	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	6255541	54952665	143069765	12	12407											
CCDC158	339965	genome.wustl.edu	37	chr4	77288467	77288467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttaagttcctttagttccaTccgcctatcattaatttctt	3	11	2	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr4:77288467T>A	ENST00000388914.3	-	11	1962	c.1810A>T	c.(1810-1812)Atg>Ttg	p.M604L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	604										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTAGTTCCATCCGCCTATCA	0.398																																																	0								ENSG00000163749						107	104	105					4																	77288467		1870	4090	5960	CCDC158	SO:0001583	missense	0			-	HGNC	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1810A>T	4.37:g.77288467T>A	ENSP00000373566:p.Met604Leu	Somatic	0	25	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP							superfamily_Prefoldin	p.M604L	ENST00000388914.3	37	c.1810	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.612036	0.00835	.	.	ENSG00000163749	ENST00000388914	T	0.24908	1.83	5.66	3.91	0.45181	.	0.104625	0.38217	N	0.001770	T	0.09379	0.0231	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13202	-1.0518	10	0.27785	T	0.31	.	8.6425	0.33985	0.079:0.0:0.7686:0.1525	.	604	Q5M9N0	CD158_HUMAN	L	604	ENSP00000373566:M604L	ENSP00000373566:M604L	M	-	1	0	CCDC158	77507491	0.999000	0.42202	0.747000	0.31113	0.230000	0.25150	2.992000	0.49417	0.740000	0.32651	-0.656000	0.03901	ATG	-	NULL		0.398	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	protein_coding	OTTHUMT00000362694.2	T	NM_001042784	-		77288467	-1	no_errors	ENST00000388914	ensembl	human	known	74_37	missense	SNP	0.913	A	A	77288467	T	A	77288467	3	1	177	1	0	0	0	0	1	0	0	0	2792	1435	50	5	1587	5	CCDC158	4	77288467	Missense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09		77288467	113865809	13	12408											
FGA	2243	genome.wustl.edu	37	chr4	155507241	155507241	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccagaggtgaccttcTctttaccagtcctgagctct	8	13	2	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr4:155507241T>A	ENST00000302053.3	-	5	1418	c.1340A>T	c.(1339-1341)gAg>gTg	p.E447V	FGA_ENST00000403106.3_Missense_Mutation_p.E447V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	447					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTGACCTTCTCTTTACCAGT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)												0								ENSG00000171560						211	221	218					4																	155507241		2203	4300	6503	FGA	SO:0001583	missense	0			-	HGNC		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1340A>T	4.37:g.155507241T>A	ENSP00000306361:p.Glu447Val	Somatic	0	76	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.E447V	ENST00000302053.3	37	c.1340	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464375	0.63513	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.61274	0.12;0.12	5.46	5.46	0.80206	Fibrinogen alpha C domain (1);	13.422700	0.00166	N	0.000000	T	0.77438	0.4130	M	0.62723	1.935	0.31728	N	0.637445	D;D	0.76494	0.985;0.999	P;D	0.68483	0.859;0.958	T	0.59747	-0.7396	10	0.87932	D	0	.	13.4209	0.60996	0.0:0.0:0.0:1.0	.	447;447	P02671-2;P02671	.;FIBA_HUMAN	V	447	ENSP00000306361:E447V;ENSP00000385981:E447V	ENSP00000306361:E447V	E	-	2	0	FGA	155726691	0.651000	0.27340	0.850000	0.33497	0.661000	0.39034	1.166000	0.31834	2.291000	0.77112	0.533000	0.62120	GAG	-	pfam_Fibrinogen_aC		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	protein_coding	OTTHUMT00000317593.1	T	NM_000508	-		155507241	-1	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	SNP	0.992	A	A	155507241	T	A	155507241	3	1	177	1	0	0	0	0	1	0	0	0	5832	1551	54	5	1312	5	FGA	4	155507241	Missense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09	78218774	155507241	35647035	14	12409											
CDH9	1007	genome.wustl.edu	37	chr5	26988306	26988306	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgcgacgtagcattttAccgtcatcttttgtcagacc	9	10	3	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr5:26988306A>C	ENST00000231021.4	-	2	307	c.135T>G	c.(133-135)ggT>ggG	p.G45G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	45					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTAGCATTTTACCGTCATCTT	0.408																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						135	129	131					5																	26988306		2203	4300	6503	CDH9	SO:0001819	synonymous_variant	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.135T>G	5.37:g.26988306A>C		Somatic	0	33	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	27	59.09	Q3B7I5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G45	ENST00000231021.4	37	c.135	CCDS3893.1	5																																																																																			-	NULL		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	A	NM_016279	-		26988306	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	silent	SNP	0.000	C	C	26988306	A	C	26988306	2	2	177	1	0	0	0	0	0	0	0	1	3119	378	14	5		5	CDH9	5	26988306	Silent	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09		26988306	153926954	15	12410											
RNASEN	29102	genome.wustl.edu	37	chr5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataattgagccagacttcgCgcaggtcctggaaaatggag	13	8	0	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr5:31424571C>T	ENST00000511367.2	-	27	3468	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1075	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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423																																																	0								ENSG00000113360						105	106	105					5																	31424571		1940	4145	6085	DROSHA	SO:0001583	missense	0			-	HGNC	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.3224G>A	5.37:g.31424571C>T	ENSP00000425979:p.Arg1075His	Somatic	0	49	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.R1075H	ENST00000511367.2	37	c.3224	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950818	0.53186	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.46819	1.44;1.44;0.86;0.86	5.41	5.41	0.78517	Ribonuclease III (2);	0.056790	0.64402	D	0.000003	T	0.34193	0.0889	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.17852	0.024;0.017	B;B	0.17433	0.008;0.018	T	0.12372	-1.0550	10	0.13470	T	0.59	-16.8708	17.7429	0.88412	0.0:1.0:0.0:0.0	.	1038;1075	E7EMP9;Q9NRR4	.;RNC_HUMAN	H	1075;1075;1038;1038;1000;1031	ENSP00000425979:R1075H;ENSP00000339845:R1075H;ENSP00000409335:R1038H;ENSP00000424161:R1038H	ENSP00000265075:R1000H	R	-	2	0	DROSHA	31460328	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	4.861000	0.62969	2.691000	0.91804	0.650000	0.86243	CGC	-	superfamily_RNase_III_dom,smart_RNase_III_dom		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	C	NM_013235	-		31424571	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31424571	C	T	31424571	3	4	177	1	0	0	0	0	1	0	0	0	13425	768	27	1	936	1	RNASEN	5	31424571	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	4436265	31424571	149490689	16	12411											
LNPEP	4012	genome.wustl.edu	37	chr5	96360291	96360291	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actgacaaaggctggtcattCcttttgggcaaatacatttc	8	9	1	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr5:96360291C>G	ENST00000231368.5	+	15	3320	c.2628C>G	c.(2626-2628)ttC>ttG	p.F876L	LNPEP_ENST00000395770.3_Missense_Mutation_p.F862L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	876					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GCTGGTCATTCCTTTTGGGCA	0.423																																																	0								ENSG00000113441						89	81	84					5																	96360291		2203	4300	6503	LNPEP	SO:0001583	missense	0			-	HGNC	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2628C>G	5.37:g.96360291C>G	ENSP00000231368:p.Phe876Leu	Somatic	0	49	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F876L	ENST00000231368.5	37	c.2628	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523481	0.27299	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04970	3.52;3.52	5.96	5.07	0.68467	.	0.233064	0.52532	D	0.000068	T	0.07007	0.0178	L	0.38953	1.18	0.45594	D	0.99853	B	0.18461	0.028	B	0.24848	0.056	T	0.19353	-1.0308	10	0.51188	T	0.08	.	10.3068	0.43685	0.0:0.8442:0.0:0.1558	.	876	Q9UIQ6	LCAP_HUMAN	L	876;862	ENSP00000231368:F876L;ENSP00000379117:F862L	ENSP00000231368:F876L	F	+	3	2	LNPEP	96386047	0.999000	0.42202	0.996000	0.52242	0.091000	0.18340	0.576000	0.23744	1.467000	0.48044	0.655000	0.94253	TTC	-	NULL		0.423	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	protein_coding	OTTHUMT00000250624.1	C	NM_005575	-		96360291	1	no_errors	ENST00000231368	ensembl	human	known	74_37	missense	SNP	1.000	G	G	96360291	C	G	96360291	3	3	177	1	0	0	0	0	1	0	0	0	8866	854	30	4	2686	4	LNPEP	5	96360291	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	64935720	96360291	84554969	17	12412											
LRRTM2	26045	genome.wustl.edu	37	chr5	138209312	138209313	+	Frame_Shift_Del	DEL	CA	CA	-													atattcgggcgctgcattccCacagattgccagagagacca							TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr5:138209312_138209313delCA	ENST00000274711.6	-	2	1315_1316	c.937_938delTG	c.(937-939)tggfs	p.W313fs	LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	313	LRRCT.				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)			GCTGCATTCCCACAGATTGCCA	0.505																																																	0								ENSG00000146006																																			LRRTM2	SO:0001589	frameshift_variant	0				HGNC	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.937_938delTG	5.37:g.138209314_138209315delCA	ENSP00000274711:p.Trp313fs	Somatic	0	15	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Frame_Shift_Del	DEL							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.W313fs	ENST00000274711.6	37	c.938_937	CCDS47272.1	5																																																																																			-	NULL		0.505	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	protein_coding	OTTHUMT00000374043.2	CA				138209313	-1	no_errors	ENST00000274711	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	138209313	CA	-	138209312	7	5	177	1	0	1	0	1	0	0	0	0	9042	595	21	0	616	0	LRRTM2	5	138209312	Frame_Shift_Del	DEL	CA	TCGA-KF-A41W-01A-11D-A24N-09	41849021	138209312	42705948	18	12413											
SLC26A8	116369	genome.wustl.edu	37	chr6	35945038	35945038	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcttcttgcccagaaatatGagcagaaaggagctcaccaa	8	10	3	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr6:35945038G>A	ENST00000490799.1	-	9	1469	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SLC26A8_ENST00000394602.2_Silent_p.L267L|SLC26A8_ENST00000355574.2_Silent_p.L372L	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCAGAAATATGAGCAGAAAGG	0.418																																																	0								ENSG00000112053						121	118	119					6																	35945038		2203	4300	6503	SLC26A8	SO:0001819	synonymous_variant	0			-	HGNC	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1116C>T	6.37:g.35945038G>A		Somatic	0	61	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	42.19		Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.L372	ENST00000490799.1	37	c.1116	CCDS4813.1	6																																																																																			-	pfam_Sulph_transpt		0.418	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	protein_coding	OTTHUMT00000040325.2	G		-		35945038	-1	no_errors	ENST00000355574	ensembl	human	known	74_37	silent	SNP	0.094	A	A	35945038	G	A	35945038	2	1	177	1	0	0	0	0	0	0	0	1	14531	1277	45	2		2	SLC26A8	6	35945038	Silent	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		35945038	135170029	19	12414											
GRM1	2911	genome.wustl.edu	37	chr6	146625761	146625761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtgatggatgggcagAcagagatgaagtcattgaag	14	3	1	5			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr6:146625761A>G	ENST00000282753.1	+	3	1200	c.965A>G	c.(964-966)gAc>gGc	p.D322G	GRM1_ENST00000392299.2_Missense_Mutation_p.D322G|GRM1_ENST00000507907.1_Missense_Mutation_p.D322G|GRM1_ENST00000361719.2_Missense_Mutation_p.D322G|GRM1_ENST00000355289.4_Missense_Mutation_p.D322G|GRM1_ENST00000492807.2_Missense_Mutation_p.D322G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGATGGGCAGACAGAGATGAA	0.433																																																	0								ENSG00000152822						61	52	56					6																	146625761		2203	4300	6503	GRM1	SO:0001583	missense	0			-	HGNC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.965A>G	6.37:g.146625761A>G	ENSP00000282753:p.Asp322Gly	Somatic	0	67	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.58	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.D322G	ENST00000282753.1	37	c.965	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350479	0.82132	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	L	0.51422	1.61	0.80722	D	1	P;D;D	0.59767	0.917;0.979;0.986	P;P;D	0.63283	0.709;0.828;0.913	D	0.85863	0.1411	10	0.49607	T	0.09	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	322;322;322	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	G	322	ENSP00000354896:D322G;ENSP00000376119:D322G;ENSP00000424095:D322G;ENSP00000282753:D322G;ENSP00000347437:D322G;ENSP00000425599:D322G	ENSP00000282753:D322G	D	+	2	0	GRM1	146667454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.306000	0.78905	2.323000	0.78572	0.528000	0.53228	GAC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.433	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	protein_coding	OTTHUMT00000042574.1	A	NM_000838	-		146625761	1	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	SNP	1.000	G	G	146625761	A	G	146625761	3	3	177	1	0	0	0	0	1	0	0	0	6798	275	10	5	975	5	GRM1	6	146625761	Missense_Mutation	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09	110680723	146625761	24489306	20	12415											
FRMD1	79981	genome.wustl.edu	37	chr6	168463585	168463585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggtcacctggtagatgtGcactcccctgagggccagtc	12	13	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr6:168463585G>A	ENST00000283309.6	-	7	923	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	FRMD1_ENST00000440994.2_Missense_Mutation_p.H219Y|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.H58Y	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	287	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGGTAGATGTGCACTCCCCTG	0.627																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0								ENSG00000153303						117	102	107					6																	168463585		2203	4300	6503	FRMD1	SO:0001583	missense	0			-	HGNC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.859C>T	6.37:g.168463585G>A	ENSP00000283309:p.His287Tyr	Somatic	0	45	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.H287Y	ENST00000283309.6	37	c.859	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973943	0.53720	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	D;D;D	0.81821	-1.54;-1.54;-1.54	2.89	1.93	0.25924	FERM domain (1);	0.275088	0.30028	U	0.010590	T	0.77698	0.4169	L	0.56769	1.78	0.27941	N	0.937519	D;D;D;D	0.64830	0.971;0.994;0.993;0.971	P;P;P;P	0.62649	0.788;0.885;0.905;0.893	T	0.71066	-0.4700	10	0.51188	T	0.08	.	10.2824	0.43548	0.0:0.0:0.7927:0.2072	.	199;287;219;159	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	Y	287;219;58	ENSP00000283309:H287Y;ENSP00000414115:H219Y;ENSP00000440078:H58Y	ENSP00000283309:H287Y	H	-	1	0	FRMD1	168206434	1.000000	0.71417	0.004000	0.12327	0.729000	0.41735	4.683000	0.61679	0.343000	0.23821	0.313000	0.20887	CAC	-	pfscan_FERM_domain		0.627	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	protein_coding	OTTHUMT00000362513.2	G	NM_024919	-		168463585	-1	no_errors	ENST00000283309	ensembl	human	known	74_37	missense	SNP	1.000	A	A	168463585	G	A	168463585	3	1	177	1	0	0	0	0	1	0	0	0	6051	1319	46	2	810	2	FRMD1	6	168463585	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	21837824	168463585	2651482	21	12416											
TFR2	7036	genome.wustl.edu	37	chr7	100226977	100226977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcatccctctgggccCcgatgacaacgtagtgatct	9	15	2	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr7:100226977C>G	ENST00000462107.1	-	11	1576	c.1289G>C	c.(1288-1290)gGg>gCg	p.G430A	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Silent_p.R344R|TFR2_ENST00000223051.3_Missense_Mutation_p.G430A			Q9UP52	TFR2_HUMAN	transferrin receptor 2	430					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCTCTGGGCCCCGATGACAAC	0.607																																																	0								ENSG00000106327						87	75	79					7																	100226977		2203	4300	6503	TFR2	SO:0001583	missense	0			-	HGNC	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1289G>C	7.37:g.100226977C>G	ENSP00000420525:p.Gly430Ala	Somatic	0	60	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	24	69.62	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP							pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.G430A	ENST00000462107.1	37	c.1289	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470621	0.84533	.	.	ENSG00000106327	ENST00000223051;ENST00000462107	T;T	0.54479	0.57;0.57	4.39	4.39	0.52855	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84084	0.0386	10	0.87932	D	0	-26.4911	14.4999	0.67714	0.0:1.0:0.0:0.0	.	430	Q9UP52	TFR2_HUMAN	A	430	ENSP00000223051:G430A;ENSP00000420525:G430A	ENSP00000223051:G430A	G	-	2	0	TFR2	100064913	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	6.745000	0.74860	2.275000	0.75901	0.561000	0.74099	GGG	-	pfam_Peptidase_M28		0.607	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	protein_coding	OTTHUMT00000356392.3	C	NM_003227	-		100226977	-1	no_errors	ENST00000223051	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100226977	C	G	100226977	3	3	177	1	0	0	0	0	1	0	0	0	15818	623	22	4	1152	4	TFR2	7	100226977	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09		100226977	58911686	22	12417											
FAM86B1	85002	genome.wustl.edu	37	chr8	12044046	12044046	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccggctgtgagggtcgctgAagatgtatgcccgggggcgg	19	10	0	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr8:12044046A>T	ENST00000448228.2	-	5	504	c.455T>A	c.(454-456)tTc>tAc	p.F152Y	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533513.1_3'UTR|FAM86B1_ENST00000533852.2_Missense_Mutation_p.F186Y	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	152										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		AGGGTCGCTGAAGATGTATGC	0.612																																																	0								ENSG00000186523						29	33	31					8																	12044046		1475	2611	4086	FAM86B1	SO:0001583	missense	0			-	HGNC	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.455T>A	8.37:g.12044046A>T	ENSP00000407067:p.Phe152Tyr	Somatic	0	393	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	433	18.15		Missense_Mutation	SNP							pfam_Nicotinamide_N-MeTfrase-like	p.F152Y	ENST00000448228.2	37	c.455	CCDS59512.1	8	.	.	.	.	.	.	.	.	.	.	-	16.70	3.195089	0.58017	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	T	0.06528	3.29	1.17	1.17	0.20885	.	.	.	.	.	T	0.18551	0.0445	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.977;1.0	D;D	0.97110	0.954;1.0	T	0.01715	-1.1289	9	0.42905	T	0.14	.	6.488	0.22099	1.0:0.0:0.0:0.0	.	152;186	Q8N7N1;E9PN63	F86B1_HUMAN;.	Y	186;152;186	ENSP00000407067:F152Y	ENSP00000444227:F186Y	F	-	2	0	FAM86B1	12081455	1.000000	0.71417	0.689000	0.30133	0.026000	0.11368	7.511000	0.81718	0.788000	0.33755	0.145000	0.16022	TTC	-	pfam_Nicotinamide_N-MeTfrase-like		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	protein_coding	OTTHUMT00000383317.1	A	NM_032916	-		12044046	-1	no_errors	ENST00000448228	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12044046	A	T	12044046	3	4	177	1	0	0	0	0	1	0	0	0	5646	246	9	5	447	5	FAM86B1	8	12044046	Missense_Mutation	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09		12044046	134319976	23	12418											
DLC1	10395	genome.wustl.edu	37	chr8	13162758	13162758	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatagattggcgagaaaacaGaaccaaaatgtcaacttacc	7	8	1	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr8:13162758G>A	ENST00000276297.4	-	5	1758				DLC1_ENST00000316609.5_Intron|DLC1_ENST00000511869.1_Silent_p.F456F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						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						CGAGAAAACAGAACCAAAATG	0.284																																																	0								ENSG00000164741						75	79	78					8																	13162758		2202	4297	6499	DLC1	SO:0001627	intron_variant	0			-	HGNC	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.1348+19C>T	8.37:g.13162758G>A		Somatic	0	58	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP							NULL	p.F456	ENST00000276297.4	37	c.1368	CCDS5989.1	8																																																																																			-	NULL		0.284	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094	-		13162758	-1	no_errors	ENST00000511869	ensembl	human	novel	74_37	silent	SNP	0.000	A	A	13162758	G	A	13162758	1	1	177	0	1	0	0	0	0	0	0	0	4552	933	33	2		2	DLC1	8	13162758	Intron	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	1118712	13162758	133201264	24	12419											
MTUS1	57509	genome.wustl.edu	37	chr8	17612997	17612997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcagtacctacaagtGcaggacactgacaaatagaa	8	10	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr8:17612997G>T	ENST00000262102.6	-	2	544	c.320C>A	c.(319-321)gCa>gAa	p.A107E	MTUS1_ENST00000381862.3_Missense_Mutation_p.A107E|MTUS1_ENST00000381869.3_Missense_Mutation_p.A107E|MTUS1_ENST00000519263.1_Missense_Mutation_p.A107E	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	107					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)		ACCTACAAGTGCAGGACACTG	0.418																																																	0								ENSG00000129422						122	111	115					8																	17612997		1918	4125	6043	MTUS1	SO:0001583	missense	0			-	HGNC	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.320C>A	8.37:g.17612997G>T	ENSP00000262102:p.Ala107Glu	Somatic	0	58	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	59	21.33	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP							superfamily_Ferritin-like_SF	p.A107E	ENST00000262102.6	37	c.320	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	g	14.79	2.640302	0.47153	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.32023	2.38;2.43;2.38;1.47	3.98	0.911	0.19343	.	0.408875	0.19863	N	0.104400	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	B;P;P	0.51351	0.16;0.944;0.944	B;P;P	0.47981	0.104;0.563;0.563	T	0.09729	-1.0661	10	0.66056	D	0.02	-6.0596	2.7822	0.05364	0.4086:0.0:0.3884:0.203	.	107;107;107	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	E	107	ENSP00000371293:A107E;ENSP00000262102:A107E;ENSP00000430167:A107E;ENSP00000371286:A107E	ENSP00000262102:A107E	A	-	2	0	MTUS1	17657277	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.233000	0.17911	0.161000	0.19458	0.558000	0.71614	GCA	-	NULL		0.418	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	protein_coding	OTTHUMT00000375247.1	G	XM_372031	-		17612997	-1	no_errors	ENST00000262102	ensembl	human	known	74_37	missense	SNP	0.000	T	T	17612997	G	T	17612997	3	4	177	1	0	0	0	0	1	0	0	0	9967	1319	46	3	3867	3	MTUS1	8	17612997	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	4450239	17612997	128751025	25	12420											
C8orf80	389643	genome.wustl.edu	37	chr8	27927797	27927797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcactctgctccatggaGggaaatgctcggaaccgctg	13	11	1	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr8:27927797G>A	ENST00000413272.2	-	3	262	c.120C>T	c.(118-120)ccC>ccT	p.P40P	NUGGC_ENST00000341513.6_Silent_p.P40P	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	40					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)										GCTCCATGGAGGGAAATGCTC	0.393																																																	0								ENSG00000189233						66	66	66					8																	27927797		1859	4096	5955	NUGGC	SO:0001819	synonymous_variant	0			-	HGNC	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.120C>T	8.37:g.27927797G>A		Somatic	0	36	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	Q6ZP73	Silent	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.P40	ENST00000413272.2	37	c.120	CCDS47833.1	8																																																																																			-	NULL		0.393	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	protein_coding	OTTHUMT00000342494.1	G	NM_001010906	-		27927797	-1	no_errors	ENST00000341513	ensembl	human	known	74_37	silent	SNP	0.987	A	A	27927797	G	A	27927797	2	1	177	1	0	0	0	0	0	0	0	1	2441	987	35	2		2	C8orf80	8	27927797	Silent	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	10314800	27927797	118436225	26	12421											
TEX15	56154	genome.wustl.edu	37	chr8	30701742	30701742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttctttaaaatcactcaCgtatgacgcaggtttcttca	5	9	5	1	rs140965662	byFrequency	TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr8:30701742C>A	ENST00000256246.2	-	1	4866	c.4792G>T	c.(4792-4794)Gtg>Ttg	p.V1598L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1598					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATCACTCACGTATGACGCA	0.403																																																	0								ENSG00000133863						106	103	104					8																	30701742		2203	4300	6503	TEX15	SO:0001583	missense	0			-	HGNC	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4792G>T	8.37:g.30701742C>A	ENSP00000256246:p.Val1598Leu	Somatic	0	28	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15		Missense_Mutation	SNP							NULL	p.V1598L	ENST00000256246.2	37	c.4792	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	7.839	0.721433	0.15372	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.44	-10.9	0.00192	.	1.883160	0.02099	N	0.053783	T	0.05823	0.0152	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.32534	-0.9903	10	0.87932	D	0	.	8.2373	0.31634	0.1075:0.5757:0.1097:0.207	.	1598	Q9BXT5	TEX15_HUMAN	L	1598	ENSP00000256246:V1598L	ENSP00000256246:V1598L	V	-	1	0	TEX15	30821284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.106000	0.01338	-2.276000	0.00678	-1.273000	0.01405	GTG	-	NULL		0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	C		-		30701742	-1	no_errors	ENST00000256246	ensembl	human	known	74_37	missense	SNP	0.000	A	A	30701742	C	A	30701742	3	1	177	1	0	0	0	0	1	0	0	0	15786	536	19	3	3593	3	TEX15	8	30701742	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	2773945	30701742	115662280	27	12422											
CNBD1	168975	genome.wustl.edu	37	chr8	88296985	88296985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgttctcggtggtgaCagaagacgattgtgaaattc	12	6	1	5			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr8:88296985C>T	ENST00000518476.1	+	7	902	c.851C>T	c.(850-852)aCa>aTa	p.T284I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	284										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCGGTGGTGACAGAAGACGAT	0.368																																																	0								ENSG00000176571						71	67	68					8																	88296985		1849	4088	5937	CNBD1	SO:0001583	missense	0			-	HGNC	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.851C>T	8.37:g.88296985C>T	ENSP00000430073:p.Thr284Ile	Somatic	0	37	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.T284I	ENST00000518476.1	37	c.851	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	4.837	0.155584	0.09236	.	.	ENSG00000176571	ENST00000518476	D	0.96940	-4.18	5.25	2.02	0.26589	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.602886	0.14910	N	0.291339	D	0.93288	0.7861	L	0.57536	1.79	0.09310	N	1	B	0.32302	0.363	B	0.28232	0.087	D	0.87861	0.2664	10	0.72032	D	0.01	-8.0556	7.7631	0.28963	0.0:0.689:0.0:0.311	.	284	Q8NA66	CNBD1_HUMAN	I	284	ENSP00000430073:T284I	ENSP00000430073:T284I	T	+	2	0	CNBD1	88366101	0.005000	0.15991	0.079000	0.20413	0.070000	0.16714	0.560000	0.23500	0.614000	0.30107	-0.218000	0.12543	ACA	-	superfamily_cNMP-bd-like		0.368	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	protein_coding	OTTHUMT00000375113.2	C	NM_173538	-		88296985	1	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	SNP	0.003	T	T	88296985	C	T	88296985	3	4	177	1	0	0	0	0	1	0	0	0	3593	478	17	2	877	2	CNBD1	8	88296985	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	57595243	88296985	58067037	28	12423											
DOCK8	81704	genome.wustl.edu	37	chr9	311953	311953	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccactgttttctctcacaGgcaggcccccgccacttaaa	6	17	2	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr9:311953G>A	ENST00000453981.1	+	6	640		c.e6-1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000432829.2_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						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)		TTCTCTCACAGGCAGGCCCCC	0.547																																																	0								ENSG00000107099						124	134	131					9																	311953		2203	4298	6501	DOCK8	SO:0001630	splice_region_variant	0			-	HGNC	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	ENST00000453981.1:c.529-1G>A	9.37:g.311953G>A		Somatic	0	56	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	53	22.06	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP							-	e6-1	ENST00000453981.1	37	c.529-1	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983054	0.53827	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.996	0.89184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	301953	1.000000	0.71417	0.501000	0.27601	0.662000	0.39071	6.954000	0.76001	2.691000	0.91804	0.563000	0.77884	.	-	-		0.547	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307	-	Intron	311953	1	no_errors	ENST00000453981	ensembl	human	known	74_37	splice_site	SNP	0.979	A	A	311953	G	A	311953	5	1	177	1	0	0	0	0	0	0	1	0	4695	1014	35	2	550	2	DOCK8	9	311953	Splice_Site	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		311953	140901478	29	12424											
PAPPA	5069	genome.wustl.edu	37	chr9	119130031	119130031	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgaaccccacacgggtaGaggtgagtgaccagggacat	15	10	0	4			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr9:119130031G>T	ENST00000328252.3	+	19	4972	c.4603G>T	c.(4603-4605)Gag>Tag	p.E1535*	PAPPA_ENST00000534838.1_Nonsense_Mutation_p.E573*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1535	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACACGGGTAGAGGTGAGTGA	0.557																																																	0								ENSG00000182752						102	70	81					9																	119130031		2203	4300	6503	PAPPA	SO:0001587	stop_gained	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4603G>T	9.37:g.119130031G>T	ENSP00000330658:p.Glu1535*	Somatic	0	35	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E1535*	ENST00000328252.3	37	c.4603	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	45	12.034991	0.99629	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	.	.	.	5.43	-0.901	0.10540	.	0.371002	0.32147	N	0.006510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-5.7963	13.3271	0.60465	0.0874:0.6977:0.2149:0.0	.	.	.	.	X	1535;573	.	ENSP00000330658:E1535X	E	+	1	0	PAPPA	118169852	0.942000	0.31987	0.273000	0.24645	0.731000	0.41821	0.434000	0.21494	-0.497000	0.06641	0.650000	0.86243	GAG	-	NULL		0.557	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	G	NM_002581	-		119130031	1	no_errors	ENST00000328252	ensembl	human	known	74_37	nonsense	SNP	0.372	T	T	119130031	G	T	119130031	4	4	177	1	0	0	0	0	0	1	0	0	11434	943	33	3	4677	3	PAPPA	9	119130031	Nonsense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	118818078	119130031	22083400	30	12425											
PDCL	5082	genome.wustl.edu	37	chr9	125585434	125585434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccctctgctctgtctccAactgcttgaagcggcgccag	9	17	3	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr9:125585434A>C	ENST00000259467.4	-	3	380	c.215T>G	c.(214-216)tTg>tGg	p.L72W		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	72					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTCTGTCTCCAACTGCTTGAA	0.542																																																	0								ENSG00000136940						189	171	177					9																	125585434		2203	4300	6503	PDCL	SO:0001583	missense	0			-	HGNC	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.215T>G	9.37:g.125585434A>C	ENSP00000259467:p.Leu72Trp	Somatic	0	101	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	96	10.28	Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP							pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin	p.L72W	ENST00000259467.4	37	c.215	CCDS6845.1	9	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425523	0.83667	.	.	ENSG00000136940	ENST00000259467	T	0.60171	0.21	5.98	4.83	0.62350	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79783	-0.1658	10	0.87932	D	0	-13.8773	12.7461	0.57281	0.8628:0.1372:0.0:0.0	.	72;72	Q4VXB6;Q13371	.;PHLP_HUMAN	W	72	ENSP00000259467:L72W	ENSP00000259467:L72W	L	-	2	0	PDCL	124625255	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.845000	0.92153	1.065000	0.40693	0.460000	0.39030	TTG	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold		0.542	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL	protein_coding	OTTHUMT00000053956.1	A	NM_005388	-		125585434	-1	no_errors	ENST00000259467	ensembl	human	known	74_37	missense	SNP	1.000	C	C	125585434	A	C	125585434	3	2	177	1	0	0	0	0	1	0	0	0	11628	131	5	5	698	5	PDCL	9	125585434	Missense_Mutation	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09	6455403	125585434	15627997	31	12426											
STK32C	282974	genome.wustl.edu	37	chr10	134059421	134059421	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccttgccaaagctgccctTcccaatggcccgaaggatct	8	15	1	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr10:134059421T>A	ENST00000368625.4	-	2	425	c.340A>T	c.(340-342)Aag>Tag	p.K114*	STK32C_ENST00000368622.1_5'UTR					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AAGCTGCCCTTCCCAATGGCC	0.632																																																	0								ENSG00000165752						81	70	74					10																	134059421		2203	4300	6503	STK32C	SO:0001587	stop_gained	0			-	HGNC	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.340A>T	10.37:g.134059421T>A	ENSP00000357614:p.Lys114*	Somatic	0	58	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	33	59.76		Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K114*	ENST00000368625.4	37	c.340		10	.	.	.	.	.	.	.	.	.	.	T	36	5.790705	0.96945	.	.	ENSG00000165752	ENST00000298630;ENST00000368625;ENST00000368620	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0979	0.42486	0.0:0.0:0.0:1.0	.	.	.	.	X	101;114;151	.	ENSP00000298630:K101X	K	-	1	0	STK32C	133909411	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	3.176000	0.50863	1.960000	0.56953	0.533000	0.62120	AAG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.632	STK32C-201	KNOWN	basic	protein_coding	STK32C	protein_coding		T	NM_173575	-		134059421	-1	no_errors	ENST00000368625	ensembl	human	known	74_37	nonsense	SNP	0.996	A	A	134059421	T	A	134059421	4	1	177	1	0	0	0	0	0	1	0	0	15306	1792	62	5	1203	5	STK32C	10	134059421	Nonsense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09		134059421	1475326	32	12427											
OR51G1	79324	genome.wustl.edu	37	chr11	4945070	4945070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtggcagtattggaagCgcttcaggaggaatggcaag	18	5	1	0	rs568109165		TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr11:4945070C>T	ENST00000321961.2	-	1	567	c.500G>A	c.(499-501)cGc>cAc	p.R167H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTATTGGAAGCGCTTCAGGAG	0.507													C|||	1	0.000199681	0	0.0014	5008	,	,		22545	0		0	False		,,,				2504	0																0								ENSG00000176879						74	63	67					11																	4945070		2201	4298	6499	OR51G1	SO:0001583	missense	0			-	HGNC	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.500G>A	11.37:g.4945070C>T	ENSP00000322546:p.Arg167His	Somatic	0	48	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.42	B9EGW8|Q6IFH6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R167H	ENST00000321961.2	37	c.500	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225213	0.39300	.	.	ENSG00000176879	ENST00000321961	T	0.00137	8.68	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.339670	0.17791	U	0.161894	T	0.00412	0.0013	M	0.66560	2.04	0.09310	N	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.59161	-0.7506	10	0.48119	T	0.1	.	13.6022	0.62026	0.0:1.0:0.0:0.0	.	167	Q8NGK1	O51G1_HUMAN	H	167	ENSP00000322546:R167H	ENSP00000322546:R167H	R	-	2	0	OR51G1	4901646	0.000000	0.05858	0.988000	0.46212	0.100000	0.18952	-0.157000	0.10085	2.226000	0.72624	0.557000	0.71058	CGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	protein_coding	OTTHUMT00000142345.1	C	NM_001005237	-		4945070	-1	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	SNP	0.181	T	T	4945070	C	T	4945070	3	4	177	1	0	0	0	0	1	0	0	0	11100	768	27	1	467	1	OR51G1	11	4945070	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09		4945070	130061446	33	12428											
MMP26	56547	genome.wustl.edu	37	chr11	5012728	5012728	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcttcagacactggTaaatgccttgtttggtggga	13	7	2	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr11:5012728T>C	ENST00000380390.1	+	5	811		c.e5+2		MMP26_ENST00000300762.1_Splice_Site			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAGACACTGGTAAATGCCTTG	0.483																																																	0								ENSG00000167346						109	106	107					11																	5012728		2201	4298	6499	MMP26	SO:0001630	splice_region_variant	0			-	HGNC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.595+2T>C	11.37:g.5012728T>C		Somatic	0	130	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	115	17.86	Q3MJ78|Q9GZS2|Q9NR87	Splice_Site	SNP							-	e4+2	ENST00000380390.1	37	c.595+2	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075326	0.36662	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9902	0.36019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MMP26	4969304	0.952000	0.32445	0.774000	0.31636	0.149000	0.21700	0.553000	0.23391	1.365000	0.46057	0.533000	0.62120	.	-	-		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	protein_coding	OTTHUMT00000142058.3	T	NM_021801	-	Intron	5012728	1	no_errors	ENST00000300762	ensembl	human	known	74_37	splice_site	SNP	0.992	C	C	5012728	T	C	5012728	5	2	177	1	0	0	0	0	0	0	1	0	9665	1652	57	5	611	5	MMP26	11	5012728	Splice_Site	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09	67658	5012728	129993788	34	12429											
OR4C3	256144	genome.wustl.edu	37	chr11	48346842	48346842	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgtatgaggggagaaccaTctcttatgagtgctgcatgg	13	6	1	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr11:48346842T>A	ENST00000319856.4	+	1	371	c.350T>A	c.(349-351)aTc>aAc	p.I117N		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	90						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GGGAGAACCATCTCTTATGAG	0.443																																																	0								ENSG00000176547						257	243	248					11																	48346842		2201	4298	6499	OR4C3	SO:0001583	missense	0			-	HGNC	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.350T>A	11.37:g.48346842T>A	ENSP00000321419:p.Ile117Asn	Somatic	0	119	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	130	9.09	B2RNF2|Q6IFB3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I117N	ENST00000319856.4	37	c.350	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	T	15.56	2.868990	0.51588	.	.	ENSG00000176547	ENST00000319856	T	0.01369	4.97	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.122041	0.36815	N	0.002381	T	0.13286	0.0322	H	0.98133	4.155	0.09310	N	0.999997	P	0.45176	0.852	P	0.55345	0.774	T	0.28202	-1.0051	10	0.87932	D	0	.	14.2031	0.65716	0.0:0.0:0.0:1.0	.	90	Q8NH37	OR4C3_HUMAN	N	117	ENSP00000321419:I117N	ENSP00000321419:I117N	I	+	2	0	OR4C3	48303418	1.000000	0.71417	0.029000	0.17559	0.817000	0.46193	4.605000	0.61119	2.245000	0.73994	0.391000	0.25812	ATC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.443	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	protein_coding	OTTHUMT00000390557.1	T	NM_001004702	-		48346842	1	no_errors	ENST00000319856	ensembl	human	known	74_37	missense	SNP	0.314	A	A	48346842	T	A	48346842	3	1	177	1	0	0	0	0	1	0	0	0	11052	1435	50	5	352	5	OR4C3	11	48346842	Missense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09	43334114	48346842	86659674	35	12430											
CATSPER1	117144	genome.wustl.edu	37	chr11	65789005	65789005	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggattgccctcagggcccgCaggctcttgaagaccttgag	13	13	2	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr11:65789005C>A	ENST00000312106.5	-	4	1790	c.1653G>T	c.(1651-1653)ctG>ctT	p.L551L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	551					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCAGGGCCCGCAGGCTCTTGA	0.622																																																	0								ENSG00000175294						58	63	61					11																	65789005		2201	4296	6497	CATSPER1	SO:0001819	synonymous_variant	0			-	HGNC	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1653G>T	11.37:g.65789005C>A		Somatic	0	68	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	47.54	Q96P76	Silent	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.L551	ENST00000312106.5	37	c.1653	CCDS8127.1	11																																																																																			-	pfam_Ion_trans_dom		0.622	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	C	NM_053054	-		65789005	-1	no_errors	ENST00000312106	ensembl	human	known	74_37	silent	SNP	0.535	A	A	65789005	C	A	65789005	2	1	177	1	0	0	0	0	0	0	0	1	2689	697	25	3		3	CATSPER1	11	65789005	Silent	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	17442163	65789005	69217511	36	12431											
FLI1	2313	genome.wustl.edu	37	chr11	128642855	128642855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaacacggaagtgctgttGtcacacctcagttacctcag	8	12	3	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr11:128642855G>T	ENST00000527786.2	+	4	1053	c.564G>T	c.(562-564)ttG>ttT	p.L188F	FLI1_ENST00000281428.8_Missense_Mutation_p.L122F|FLI1_ENST00000534087.2_Missense_Mutation_p.L155F|FLI1_ENST00000344954.6_Missense_Mutation_p.L155F|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	188	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AAGTGCTGTTGTCACACCTCA	0.537			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0								ENSG00000151702						151	155	154					11																	128642855		2091	4210	6301	FLI1	SO:0001583	missense	0			-	HGNC	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.564G>T	11.37:g.128642855G>T	ENSP00000433488:p.Leu188Phe	Somatic	0	29	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP							pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.L188F	ENST00000527786.2	37	c.564	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192195	0.38707	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.13	3.21	0.36854	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.074103	0.42821	D	0.000643	T	0.26702	0.0653	M	0.65975	2.015	0.52501	D	0.999953	B;B	0.14805	0.003;0.011	B;B	0.24541	0.046;0.054	T	0.11941	-1.0567	9	.	.	.	.	2.997	0.06001	0.1369:0.2753:0.4464:0.1414	.	188;122	Q01543;Q01543-2	FLI1_HUMAN;.	F	155;188;155;122	ENSP00000339627:L155F;ENSP00000399985:L188F;ENSP00000432950:L155F;ENSP00000281428:L122F	.	L	+	3	2	FLI1	128148065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.807000	0.27140	1.115000	0.41800	0.655000	0.94253	TTG	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.537	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	protein_coding	OTTHUMT00000386226.2	G	NM_002017	-		128642855	1	no_errors	ENST00000527786	ensembl	human	known	74_37	missense	SNP	0.997	T	T	128642855	G	T	128642855	3	4	177	1	0	0	0	0	1	0	0	0	5926	1368	48	3	578	3	FLI1	11	128642855	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	62853850	128642855	6363661	37	12432											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18715824	18715824	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagcaagaaatccagtAatgtaagtttaaagtccgtc	9	7	1	1	rs368585306		TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr12:18715824A>T	ENST00000266497.5	+	25	3693	c.3655A>T	c.(3655-3657)Aat>Tat	p.N1219Y	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N1219Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N1260Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1219	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAATCCAGTAATGTAAGTTT	0.368																																																	0								ENSG00000139144						98	97	97					12																	18715824		1860	4105	5965	PIK3C2G	SO:0001583	missense	0			-	HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3655A>T	12.37:g.18715824A>T	ENSP00000266497:p.Asn1219Tyr	Somatic	0	34	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	A1L3U0	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.N1260Y	ENST00000266497.5	37	c.3778	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.482555	0.00163	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.26518	1.73;1.73;1.73	4.14	-3.66	0.04489	Phox homologous domain (5);	0.843042	0.10337	N	0.686794	T	0.09774	0.0240	N	0.17082	0.46	0.09310	N	1	B;B;B	0.14012	0.009;0.007;0.009	B;B;B	0.18263	0.021;0.012;0.021	T	0.38243	-0.9670	10	0.02654	T	1	-0.0476	4.4453	0.11595	0.5507:0.2654:0.0944:0.0895	.	1259;1260;1219	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Y	1219;1219;1260	ENSP00000404845:N1219Y;ENSP00000266497:N1219Y;ENSP00000445381:N1260Y	ENSP00000266497:N1219Y	N	+	1	0	PIK3C2G	18607091	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.521000	0.06245	-0.697000	0.05092	0.482000	0.46254	AAT	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	A	NM_004570	-		18715824	1	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	SNP	0.000	T	T	18715824	A	T	18715824	3	4	177	1	0	0	0	0	1	0	0	0	11913	362	13	5	3753	5	PIK3C2G	12	18715824	Missense_Mutation	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09		18715824	115136071	38	12433											
GPC5	2262	genome.wustl.edu	37	chr13	92345903	92345903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgcccgcactgccaagGcctggcgctcactaagcctt	9	16	1	0	rs373404359		TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr13:92345903G>A	ENST00000377067.3	+	3	1160	c.788G>A	c.(787-789)gGc>gAc	p.G263D		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	263					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CACTGCCAAGGCCTGGCGCTC	0.532																																																	0								ENSG00000179399	G	ASP/GLY	0,4406		0,0,2203	81	72	75		788	4.6	1	13		75	1,8599		0,1,4299	no	missense	GPC5	NM_004466.4	94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	263/573	92345903	1,13005	2203	4300	6503	GPC5	SO:0001583	missense	0			-	HGNC	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.788G>A	13.37:g.92345903G>A	ENSP00000366267:p.Gly263Asp	Somatic	0	45	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	16	61.90	B2R726|O60436|Q9BX27	Missense_Mutation	SNP							pfam_Glypican	p.G263D	ENST00000377067.3	37	c.788	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965687	0.53507	0.0	1.16E-4	ENSG00000179399	ENST00000377067	T	0.65732	-0.17	5.45	4.59	0.56863	Glypican, conserved site (1);	0.153488	0.64402	D	0.000019	T	0.77671	0.4165	M	0.82056	2.57	0.27952	N	0.937099	P	0.44281	0.831	P	0.57244	0.816	T	0.73238	-0.4046	10	0.66056	D	0.02	0.4806	16.3565	0.83236	0.0:0.1651:0.8349:0.0	.	263	P78333	GPC5_HUMAN	D	263	ENSP00000366267:G263D	ENSP00000366267:G263D	G	+	2	0	GPC5	91143904	1.000000	0.71417	0.993000	0.49108	0.473000	0.32948	5.309000	0.65774	2.566000	0.86566	0.585000	0.79938	GGC	-	pfam_Glypican		0.532	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	protein_coding	OTTHUMT00000045454.1	G	NM_004466	-		92345903	1	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	SNP	0.915	A	A	92345903	G	A	92345903	3	1	177	1	0	0	0	0	1	0	0	0	6603	1203	42	2	798	2	GPC5	13	92345903	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		92345903	22823975	39	12434											
OR4N5	390437	genome.wustl.edu	37	chr14	20612593	20612593	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcactcctctgaaggaaaGagcaaggctatttccacatg	10	10	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:20612593G>T	ENST00000333629.1	+	1	699	c.699G>T	c.(697-699)aaG>aaT	p.K233N	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGAAGGAAAGAGCAAGGCTA	0.498																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000184394						148	148	148					14																	20612593		2203	4300	6503	OR4N5	SO:0001583	missense	0			-	HGNC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.699G>T	14.37:g.20612593G>T	ENSP00000332110:p.Lys233Asn	Somatic	0	71	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	55	26.67	Q6IF11	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K233N	ENST00000333629.1	37	c.699	CCDS32031.1	14	.	.	.	.	.	.	.	.	.	.	G	5.016	0.188655	0.09547	.	.	ENSG00000184394	ENST00000333629	T	0.00169	8.63	3.88	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	0.146929	0.31427	N	0.007668	T	0.00468	0.0015	M	0.89163	3.01	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47182	-0.9137	10	0.72032	D	0.01	.	5.0411	0.14460	0.3894:0.1461:0.4645:0.0	.	233	Q8IXE1	OR4N5_HUMAN	N	233	ENSP00000332110:K233N	ENSP00000332110:K233N	K	+	3	2	OR4N5	19682433	0.000000	0.05858	0.048000	0.18961	0.383000	0.30230	-1.280000	0.02804	-0.489000	0.06716	-0.753000	0.03488	AAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N5	protein_coding	OTTHUMT00000410347.1	G		-		20612593	1	no_errors	ENST00000333629	ensembl	human	known	74_37	missense	SNP	0.003	T	T	20612593	G	T	20612593	3	4	177	1	0	0	0	0	1	0	0	0	11081	933	33	3	701	3	OR4N5	14	20612593	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		20612593	86736947	40	12435											
C14orf106	55320	genome.wustl.edu	37	chr14	45673327	45673327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttactatgcagaatcagaGttcgaaaaataataatcttt	5	5	2	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:45673327G>T	ENST00000310806.4	-	17	3842	c.3384C>A	c.(3382-3384)aaC>aaA	p.N1128K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1128					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CAGAATCAGAGTTCGAAAAAT	0.313																																																	0								ENSG00000129534						29	31	30					14																	45673327		2199	4276	6475	MIS18BP1	SO:0001583	missense	0			-	HGNC	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3384C>A	14.37:g.45673327G>T	ENSP00000309790:p.Asn1128Lys	Somatic	0	41	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP							pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N1128K	ENST00000310806.4	37	c.3384	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356523	0.61293	.	.	ENSG00000129534	ENST00000310806	T	0.23348	1.91	5.66	1.75	0.24633	.	0.353750	0.35040	N	0.003492	T	0.27313	0.0670	M	0.62723	1.935	0.39402	D	0.966608	P	0.46395	0.877	B	0.43360	0.417	T	0.10109	-1.0644	10	0.72032	D	0.01	-6.1164	9.3895	0.38363	0.3785:0.0:0.6215:0.0	.	1128	Q6P0N0	M18BP_HUMAN	K	1128	ENSP00000309790:N1128K	ENSP00000309790:N1128K	N	-	3	2	MIS18BP1	44743077	0.999000	0.42202	0.995000	0.50966	0.993000	0.82548	0.738000	0.26158	0.327000	0.23409	0.555000	0.69702	AAC	-	NULL		0.313	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	protein_coding	OTTHUMT00000276795.2	G		-		45673327	-1	no_errors	ENST00000310806	ensembl	human	known	74_37	missense	SNP	0.935	T	T	45673327	G	T	45673327	3	4	177	1	0	0	0	0	1	0	0	0	1740	1020	36	3	18	3	C14orf106	14	45673327	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	25060734	45673327	61676213	41	12436											
SYNE2	23224	genome.wustl.edu	37	chr14	64532361	64532361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaatggaaatttgtcaGtgaagaagtgagtgcttcat	13	4	2	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:64532361G>T	ENST00000344113.4	+	51	10636	c.10424G>T	c.(10423-10425)aGt>aTt	p.S3475I	SYNE2_ENST00000555002.1_Missense_Mutation_p.S109I|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3508I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3475I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3475					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATTTGTCAGTGAAGAAGTG	0.388																																																	0								ENSG00000054654						142	140	141					14																	64532361		1950	4141	6091	SYNE2	SO:0001583	missense	0			-	HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10424G>T	14.37:g.64532361G>T	ENSP00000341781:p.Ser3475Ile	Somatic	0	43	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP							pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3475I	ENST00000344113.4	37	c.10424	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220471	0.39201	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.59364	0.65;0.65;0.27;4.0	5.52	2.55	0.30701	.	0.420097	0.24917	N	0.034567	T	0.53610	0.1807	L	0.29908	0.895	0.80722	D	1	P;D	0.53885	0.938;0.963	P;P	0.55508	0.603;0.777	T	0.42275	-0.9461	10	0.30078	T	0.28	.	8.9018	0.35499	0.4027:0.0:0.5973:0.0	.	3475;3475	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	3475;3475;3508;3508;109	ENSP00000350719:S3475I;ENSP00000341781:S3475I;ENSP00000452570:S3508I;ENSP00000450831:S109I	ENSP00000261678:S3508I	S	+	2	0	SYNE2	63602114	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	0.692000	0.25482	0.321000	0.23259	0.585000	0.79938	AGT	-	NULL		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914	-		64532361	1	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	SNP	0.999	T	T	64532361	G	T	64532361	3	4	177	1	0	0	0	0	1	0	0	0	15453	1029	36	3	10622	3	SYNE2	14	64532361	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	18859034	64532361	42817179	42	12437											
C14orf43	91748	genome.wustl.edu	37	chr14	74186107	74186107	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaaggtagtgcccttcgtGacttccctgtcccttccctt	7	14	0	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:74186107G>T	ENST00000286523.5	-	12	3817	c.3035C>A	c.(3034-3036)tCa>tAa	p.S1012*	ELMSAN1_ENST00000394071.2_Nonsense_Mutation_p.S1012*	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	1012					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TGCCCTTCGTGACTTCCCTGT	0.542																																																	0								ENSG00000156030						99	82	88					14																	74186107		2203	4299	6502	ELMSAN1	SO:0001587	stop_gained	0			-	HGNC	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.3035C>A	14.37:g.74186107G>T	ENSP00000286523:p.Ser1012*	Somatic	0	43	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q6PK13|Q6PK59|Q6ZS23	Nonsense_Mutation	SNP							pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.S1012*	ENST00000286523.5	37	c.3035	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	46	12.782560	0.99696	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	.	.	.	5.78	5.78	0.91487	.	0.125654	0.36555	N	0.002535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0609	11.3045	0.49327	0.0:0.1364:0.7222:0.1414	.	.	.	.	X	1012	.	ENSP00000286523:S1012X	S	-	2	0	C14orf43	73255860	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.198000	0.51035	2.739000	0.93911	0.561000	0.74099	TCA	-	NULL		0.542	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	protein_coding	OTTHUMT00000317793.1	G	NM_194278	-		74186107	-1	no_errors	ENST00000286523	ensembl	human	known	74_37	nonsense	SNP	0.987	T	T	74186107	G	T	74186107	4	4	177	1	0	0	0	0	0	1	0	0	1776	1294	45	3	106	3	C14orf43	14	74186107	Nonsense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	9653746	74186107	33163433	43	12438											
ANGEL1	23357	genome.wustl.edu	37	chr14	77275799	77275799	+	Frame_Shift_Del	DEL	T	T	-													aggctgctctgggctagtccTttatctataaggggcccctc							TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:77275799delT	ENST00000251089.2	-	2	364	c.252delA	c.(250-252)aaafs	p.K84fs	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	84										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GGGCTAGTCCTTTATCTATAA	0.567																																																	0								ENSG00000013523						41	42	42					14																	77275799		2203	4300	6503	ANGEL1	SO:0001589	frameshift_variant	0				HGNC	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.252delA	14.37:g.77275799delT	ENSP00000251089:p.Lys84fs	Somatic	0	44	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B4DWL7|O94859|Q8NCS9	Frame_Shift_Del	DEL							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.G85fs	ENST00000251089.2	37	c.252	CCDS9852.1	14																																																																																			-	NULL		0.567	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	protein_coding	OTTHUMT00000413712.2	T	NM_015305			77275799	-1	no_errors	ENST00000251089	ensembl	human	known	74_37	frame_shift_del	DEL	0.782	-	-	77275799	T	-	77275799	7	5	177	1	0	1	0	1	0	0	0	0	608	1606	56	0	1796	0	ANGEL1	14	77275799	Frame_Shift_Del	DEL	T	TCGA-KF-A41W-01A-11D-A24N-09	3089692	77275799	30073741	44	12439											
KIAA1409	57578	genome.wustl.edu	37	chr14	94066938	94066938	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgtctttgtcttgacttCcagtttgatactgtggttaa	8	7	2	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:94066938C>T	ENST00000393151.2	+	25	3396	c.3396C>T	c.(3394-3396)ttC>ttT	p.F1132F	UNC79_ENST00000555664.1_Silent_p.F1132F|UNC79_ENST00000256339.4_Silent_p.F955F|UNC79_ENST00000553484.1_Silent_p.F1132F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1132					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCTTGACTTCCAGTTTGATA	0.378																																																	0								ENSG00000133958						71	67	68					14																	94066938		2203	4300	6503	UNC79	SO:0001819	synonymous_variant	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3396C>T	14.37:g.94066938C>T		Somatic	0	31	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	B5MDL6|Q6ZUT7	Silent	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.F1132	ENST00000393151.2	37	c.3396		14																																																																																			-	superfamily_ARM-type_fold		0.378	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	C	XM_028395	-		94066938	1	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	SNP	1.000	T	T	94066938	C	T	94066938	2	4	177	1	0	0	0	0	0	0	0	1	8232	854	30	2		2	KIAA1409	14	94066938	Silent	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	16791139	94066938	13282602	45	12440											
GSC	145258	genome.wustl.edu	37	chr14	95235493	95235493	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcgacagcgtgcccacgttCatgtagggcagcatctggtg	14	12	2	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:95235493C>T	ENST00000238558.3	-	2	626	c.417G>A	c.(415-417)atG>atA	p.M139I		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	139					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TGCCCACGTTCATGTAGGGCA	0.687																																					Pancreas(105;2165 2186 4892 18008)												0								ENSG00000133937						21	14	16					14																	95235493		2194	4290	6484	GSC	SO:0001583	missense	0			-	HGNC		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"Homeoboxes / PRD class"	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.417G>A	14.37:g.95235493C>T	ENSP00000238558:p.Met139Ile	Somatic	0	32	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q86YR1	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.M139I	ENST00000238558.3	37	c.417	CCDS9930.1	14	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712954	0.68730	.	.	ENSG00000133937	ENST00000238558	T	0.28895	1.59	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	L	0.27053	0.805	0.80722	D	1	P	0.38504	0.634	B	0.38562	0.276	T	0.03981	-1.0987	10	0.36615	T	0.2	-33.2807	18.1505	0.89672	0.0:1.0:0.0:0.0	.	139	P56915	GSC_HUMAN	I	139	ENSP00000238558:M139I	ENSP00000238558:M139I	M	-	3	0	GSC	94305246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.746000	0.85057	2.305000	0.77605	0.456000	0.33151	ATG	-	NULL		0.687	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSC	protein_coding	OTTHUMT00000410746.1	C		-		95235493	-1	no_errors	ENST00000238558	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95235493	C	T	95235493	3	4	177	1	0	0	0	0	1	0	0	0	6816	826	29	2	364	2	GSC	14	95235493	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	1168555	95235493	12114047	46	12441											
C14orf177	283598	genome.wustl.edu	37	chr14	99183433	99183433	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtttcaatccccctccagGtgagtgctctacctgtttct	7	13	3	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr14:99183433G>T	ENST00000325812.2	+	4	619	c.200G>T	c.(199-201)gGt>gTt	p.G67V		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	67										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CCCCCTCCAGGTGAGTGCTCT	0.498																																																	0								ENSG00000176605						84	78	80					14																	99183433		2203	4300	6503	C14orf177	SO:0001630	splice_region_variant	0			-	HGNC	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.200-1G>T	14.37:g.99183433G>T		Somatic	0	41	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	27	70.00	Q8N7D2	Missense_Mutation	SNP							NULL	p.G67V	ENST00000325812.2	37	c.200	CCDS9948.1	14	.	.	.	.	.	.	.	.	.	.	G	2.031	-0.422393	0.04734	.	.	ENSG00000176605	ENST00000325812;ENST00000541516	T;T	0.51817	0.85;0.69	3.23	0.257	0.15574	.	.	.	.	.	T	0.25005	0.0607	N	0.08118	0	0.58432	D	0.999992	P	0.50943	0.94	P	0.46275	0.51	T	0.06881	-1.0802	8	.	.	.	.	4.0102	0.09619	0.1185:0.0:0.4661:0.4154	.	67	Q52M58	CN177_HUMAN	V	67	ENSP00000321360:G67V;ENSP00000440687:G67V	.	G	+	2	0	C14orf177	98253186	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.326000	0.19646	0.041000	0.15688	-0.822000	0.03109	GGT	-	NULL		0.498	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf177	protein_coding	OTTHUMT00000396078.1	G	NM_182560	-	Missense_Mutation	99183433	1	no_errors	ENST00000325812	ensembl	human	known	74_37	missense	SNP	0.001	T	T	99183433	G	T	99183433	5	4	177	1	0	0	0	0	0	0	1	0	1762	1275	44	3	206	3	C14orf177	14	99183433	Splice_Site	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	3947940	99183433	8166107	47	12442											
USP50	373509	genome.wustl.edu	37	chr15	50835876	50835876	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctttttcgtaaatgcTgggtagaggttgccaagagc	12	7	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr15:50835876T>G	ENST00000532404.1	-	3	536	c.363A>C	c.(361-363)ccA>ccC	p.P121P	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	126	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCGTAAATGCTGGGTAGAGGT	0.423																																																	0								ENSG00000170236						64	60	61					15																	50835876		1873	4114	5987	USP50	SO:0001819	synonymous_variant	0			-	HGNC	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.363A>C	15.37:g.50835876T>G		Somatic	0	45	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	15	61.54	E9PP86	Silent	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P121	ENST00000532404.1	37	c.363	CCDS53944.1	15																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.423	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	protein_coding	OTTHUMT00000395249.1	T		-		50835876	-1	no_errors	ENST00000532404	ensembl	human	known	74_37	silent	SNP	0.017	G	G	50835876	T	G	50835876	2	3	177	1	0	0	0	0	0	0	0	1	17089	1567	55	5		5	USP50	15	50835876	Silent	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09		50835876	51695516	48	12443											
MSLN	10232	genome.wustl.edu	37	chr16	816740	816740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccctagacaccctgaccGccttctaccctgggtacctg	7	18	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr16:816740G>A	ENST00000382862.3	+	13	1422	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	MSLN_ENST00000545450.2_Missense_Mutation_p.A435T|MSLN_ENST00000566549.1_Missense_Mutation_p.A435T|MSLN_ENST00000563941.1_Missense_Mutation_p.A435T	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	443					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CACCCTGACCGCCTTCTACCC	0.652																																																	0								ENSG00000102854						74	74	74					16																	816740		2192	4286	6478	MSLN	SO:0001583	missense	0			-	HGNC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1327G>A	16.37:g.816740G>A	ENSP00000372313:p.Ala443Thr	Somatic	0	69	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	48	30.43	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP							pfam_Mesothelin	p.A443T	ENST00000382862.3	37	c.1327	CCDS32356.1	16	.	.	.	.	.	.	.	.	.	.	G	1.577	-0.532543	0.04112	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12361	2.69;2.69	4.11	-4.79	0.03200	.	3.044690	0.01244	N	0.008686	T	0.06690	0.0171	N	0.11064	0.09	0.09310	N	1	B;B;B;B	0.25048	0.042;0.052;0.117;0.042	B;B;B;B	0.17433	0.01;0.018;0.01;0.01	T	0.35992	-0.9766	10	0.06891	T	0.86	-0.9712	11.4066	0.49902	0.2964:0.0:0.7036:0.0	.	434;443;435;435	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	T	443;435;435;443	ENSP00000442965:A435T;ENSP00000372313:A443T	ENSP00000372313:A443T	A	+	1	0	MSLN	756741	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.079000	0.11357	-0.832000	0.04251	0.205000	0.17691	GCC	-	pfam_Mesothelin		0.652	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	protein_coding	OTTHUMT00000109253.2	G		-		816740	1	no_errors	ENST00000382862	ensembl	human	known	74_37	missense	SNP	0.000	A	A	816740	G	A	816740	3	1	177	1	0	0	0	0	1	0	0	0	9883	1087	38	1	1373	1	MSLN	16	816740	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		816740	89538013	49	12444											
VPS35	55737	genome.wustl.edu	37	chr16	46696380	46696380	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgctgatttcatcttcAtacagagaaaatgcctagtg	8	8	3	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr16:46696380A>C	ENST00000299138.7	-	15	1900	c.1842T>G	c.(1840-1842)taT>taG	p.Y614*	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	614					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTCATCTTCATACAGAGAAA	0.423																																																	0								ENSG00000069329						100	93	95					16																	46696380		2203	4300	6503	VPS35	SO:0001587	stop_gained	0			-	HGNC	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1842T>G	16.37:g.46696380A>C	ENSP00000299138:p.Tyr614*	Somatic	0	61	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Nonsense_Mutation	SNP							pfam_VPS35,superfamily_ARM-type_fold	p.Y614*	ENST00000299138.7	37	c.1842	CCDS10721.1	16	.	.	.	.	.	.	.	.	.	.	.	38	6.735249	0.97801	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	.	.	.	5.77	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5121	9.4594	0.38776	0.847:0.0:0.153:0.0	.	.	.	.	X	614;479	.	ENSP00000299138:Y614X	Y	-	3	2	VPS35	45253881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.793000	0.38764	0.415000	0.25817	0.459000	0.35465	TAT	-	pfam_VPS35,superfamily_ARM-type_fold		0.423	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	protein_coding	OTTHUMT00000255742.3	A		-		46696380	-1	no_errors	ENST00000299138	ensembl	human	known	74_37	nonsense	SNP	1.000	C	C	46696380	A	C	46696380	4	2	177	1	0	0	0	0	0	1	0	0	17210	224	8	5	560	5	VPS35	16	46696380	Nonsense_Mutation	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09	45879640	46696380	43658373	50	12445											
CETP	1071	genome.wustl.edu	37	chr16	57017287	57017287	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagcaaaggcgtgagcctCttcgacatcatcaaccctga	8	13	3	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr16:57017287C>T	ENST00000566128.1	+	15	1443	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	CETP_ENST00000200676.3_Silent_p.L457L|CETP_ENST00000379780.2_Silent_p.L397L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCGTGAGCCTCTTCGACATCA	0.592																																																	0								ENSG00000087237						106	97	100					16																	57017287		2198	4300	6498	CETP	SO:0001819	synonymous_variant	0			-	HGNC	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1176C>T	16.37:g.57017287C>T		Somatic	0	41	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	11	64.52		Silent	SNP							pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.L457	ENST00000566128.1	37	c.1371		16																																																																																			-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer		0.592	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	protein_coding	OTTHUMT00000432305.1	C	NM_000078	-		57017287	1	no_errors	ENST00000200676	ensembl	human	known	74_37	silent	SNP	0.999	T	T	57017287	C	T	57017287	2	4	177	1	0	0	0	0	0	0	0	1	3279	900	32	2		2	CETP	16	57017287	Silent	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	10320907	57017287	33337466	51	12446											
TP53	7157	genome.wustl.edu	37	chr17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaatttccttccactcggaTaagatgctgaggaggggcca	11	10	0	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr17:7578266T>A	ENST00000269305.4	-	6	772	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000420246.2_Missense_Mutation_p.I195F	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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)	TCCACTCGGATAAGATGCTGA	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	60	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Complex - frameshift(1)	upper_aerodigestive_tract(8)|breast(8)|large_intestine(6)|biliary_tract(5)|skin(5)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|liver(2)|stomach(1)|soft_tissue(1)						ENSG00000141510						99	89	92					17																	7578266		2203	4300	6503	TP53	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;	-	HGNC	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.583A>T	17.37:g.7578266T>A	ENSP00000269305:p.Ile195Phe	Somatic	0	48	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	32	42.86	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I195F	ENST00000269305.4	37	c.583	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493726	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	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);	0.103171	0.64402	D	0.000004	D	0.99802	0.9915	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.997;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.955;0.972;0.988;0.99;0.992	D	0.96806	0.9593	10	0.87932	D	0	-18.4587	13.709	0.62656	0.0:0.0:0.0:1.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195F;ENSP00000352610:I195F;ENSP00000269305:I195F;ENSP00000398846:I195F;ENSP00000391127:I195F;ENSP00000391478:I195F;ENSP00000425104:I63F;ENSP00000423862:I102F	ENSP00000269305:I195F	I	-	1	0	TP53	7518991	1.000000	0.71417	0.895000	0.35142	0.030000	0.12068	6.159000	0.71856	2.183000	0.69458	0.533000	0.62120	ATC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578266	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.999	A	A	7578266	T	A	7578266	3	1	177	1	0	0	0	0	1	0	0	0	16388	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09		7578266	73616944	52	12447											
TTC39C	125488	genome.wustl.edu	37	chr18	21660677	21660677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccttgacttctgatgctGcaaatgataatcacattgtg	8	8	2	3			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr18:21660677G>T	ENST00000317571.3	+	5	825	c.589G>T	c.(589-591)Gca>Tca	p.A197S	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A136S	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	197										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTCTGATGCTGCAAATGATAA	0.433																																																	0								ENSG00000168234						140	134	136					18																	21660677		2203	4300	6503	TTC39C	SO:0001583	missense	0			-	HGNC	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.589G>T	18.37:g.21660677G>T	ENSP00000323645:p.Ala197Ser	Somatic	0	65	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP							pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.A197S	ENST00000317571.3	37	c.589	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	g	14.97	2.695725	0.48202	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.42513	0.97;0.97	5.92	5.05	0.67936	.	0.048208	0.85682	D	0.000000	T	0.29652	0.0740	N	0.22421	0.69	0.80722	D	1	B	0.14438	0.01	B	0.14023	0.01	T	0.08249	-1.0731	10	0.10902	T	0.67	-3.7805	16.4662	0.84079	0.0:0.0:0.8676:0.1324	.	197	Q8N584	TT39C_HUMAN	S	136;197	ENSP00000306598:A136S;ENSP00000323645:A197S	ENSP00000306598:A136S	A	+	1	0	TTC39C	19914675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.555000	0.67301	1.491000	0.48482	0.552000	0.68991	GCA	-	pfam_OMP_IML2_mit/TPR_39		0.433	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	protein_coding	OTTHUMT00000446107.1	G	NM_153211	-		21660677	1	no_errors	ENST00000317571	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21660677	G	T	21660677	3	4	177	1	0	0	0	0	1	0	0	0	16716	1319	46	3	607	3	TTC39C	18	21660677	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09		21660677	56416571	53	12448											
IMPACT	55364	genome.wustl.edu	37	chr18	22029853	22029853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctgctaggaccagatcGctttaaacatatcaacaact	6	10	2	1	rs542157006		TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr18:22029853G>T	ENST00000284202.4	+	10	971	c.830G>T	c.(829-831)cGc>cTc	p.R277L		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	277					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378																																																	0								ENSG00000154059						133	117	122					18																	22029853		2203	4300	6503	IMPACT	SO:0001583	missense	0			-	HGNC	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.830G>T	18.37:g.22029853G>T	ENSP00000284202:p.Arg277Leu	Somatic	0	50	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP							pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.R277L	ENST00000284202.4	37	c.830	CCDS11886.1	18	.	.	.	.	.	.	.	.	.	.	G	18.05	3.535957	0.64972	.	.	ENSG00000154059	ENST00000284202	T	0.64260	-0.09	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91058	0.4883	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	277	Q9P2X3	IMPCT_HUMAN	L	277	ENSP00000284202:R277L	ENSP00000284202:R277L	R	+	2	0	IMPACT	20283851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	CGC	-	pfam_Impact_N,superfamily_Ribosomal_S5_D2-typ_fold		0.378	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPACT	protein_coding	OTTHUMT00000254901.1	G	NM_018439	-		22029853	1	no_errors	ENST00000284202	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22029853	G	T	22029853	3	4	177	1	0	0	0	0	1	0	0	0	7726	1087	38	3	868	3	IMPACT	18	22029853	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	369176	22029853	56047395	54	12449											
DSG2	1829	genome.wustl.edu	37	chr18	29122725	29122725	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaaaccacgaagaccgcAagggccacaggggcttccag	12	13	0	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr18:29122725A>C	ENST00000261590.8	+	14	2453	c.2244A>C	c.(2242-2244)gcA>gcC	p.A748A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	748					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)			CGAAGACCGCAAGGGCCACAG	0.512																																																	0								ENSG00000046604						86	93	91					18																	29122725		2045	4201	6246	DSG2	SO:0001819	synonymous_variant	0			-	HGNC	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.2244A>C	18.37:g.29122725A>C		Somatic	0	50	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	Q4KKU6	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.A748	ENST00000261590.8	37	c.2244	CCDS42423.1	18																																																																																			-	NULL		0.512	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	A	NM_001943	-		29122725	1	no_errors	ENST00000261590	ensembl	human	known	74_37	silent	SNP	0.000	C	C	29122725	A	C	29122725	2	2	177	1	0	0	0	0	0	0	0	1	4779	117	5	5		5	DSG2	18	29122725	Silent	SNP	A	TCGA-KF-A41W-01A-11D-A24N-09	7092872	29122725	48954523	55	12450											
DCC	1630	genome.wustl.edu	37	chr18	50451640	50451640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattgggtggaagcaacttGcttatctccaatgtgacaga	10	7	1	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr18:50451640G>T	ENST00000442544.2	+	5	1501	c.885G>T	c.(883-885)ttG>ttT	p.L295F	DCC_ENST00000412726.1_Missense_Mutation_p.L143F	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	295	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGCAACTTGCTTATCTCCA	0.373																																																	0								ENSG00000187323						130	129	130					18																	50451640		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.885G>T	18.37:g.50451640G>T	ENSP00000389140:p.Leu295Phe	Somatic	0	41	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00		Missense_Mutation	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L295F	ENST00000442544.2	37	c.885	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	11.16	1.558247	0.27827	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.92048	-2.96;-2.96	5.76	3.66	0.41972	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	D	0.96349	0.8809	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.969;1.0	D	0.96268	0.9196	10	0.87932	D	0	.	9.812	0.40828	0.2455:0.0:0.7545:0.0	.	143;295	E7EQM8;P43146	.;DCC_HUMAN	F	295;228;143	ENSP00000389140:L295F;ENSP00000397322:L143F	ENSP00000304146:L228F	L	+	3	2	DCC	48705638	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	0.900000	0.28431	1.441000	0.47550	0.460000	0.39030	TTG	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50451640	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50451640	G	T	50451640	3	4	177	1	0	0	0	0	1	0	0	0	4284	1310	46	3	903	3	DCC	18	50451640	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	21328915	50451640	27625608	56	12451											
SMARCA4	6597	genome.wustl.edu	37	chr19	11094868	11094868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcggaactcctcggcCaggtccttccccgggccctg	13	18	0	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr19:11094868C>T	ENST00000429416.3	+	3	322	c.41C>T	c.(40-42)cCa>cTa	p.P14L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.P14L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P14L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P14L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P14L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P14L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P14L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P14L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P14L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	14	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACTCCTCGGCCAGGTCCTTCC	0.697			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)						ENSG00000127616						28	35	32					19																	11094868		2200	4298	6498	SMARCA4	SO:0001583	missense	0			-	HGNC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.41C>T	19.37:g.11094868C>T	ENSP00000395654:p.Pro14Leu	Somatic	0	94	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	44	49.43	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.P14L	ENST00000429416.3	37	c.41	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099488	0.76983	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.89123	-2.44;-2.47;-2.44;-2.41;-2.41;-2.42;-2.41	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D	0.73708	0.981;0.981;0.981;0.981;0.981;0.981;0.981	D	0.92495	0.6003	10	0.59425	D	0.04	-13.389	17.1334	0.86732	0.0:1.0:0.0:0.0	.	14;14;14;14;14;14;14	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	L	14	ENSP00000395654:P14L;ENSP00000350720:P14L;ENSP00000343896:P14L;ENSP00000445036:P14L;ENSP00000392837:P14L;ENSP00000397783:P14L;ENSP00000414727:P14L	ENSP00000343896:P14L	P	+	2	0	SMARCA4	10955868	1.000000	0.71417	0.956000	0.39512	0.887000	0.51463	7.534000	0.82004	2.563000	0.86464	0.655000	0.94253	CCA	-	NULL		0.697	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	protein_coding	OTTHUMT00000452638.2	C	NM_003072	-		11094868	1	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11094868	C	T	11094868	3	4	177	1	0	0	0	0	1	0	0	0	14778	594	21	2	43	2	SMARCA4	19	11094868	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09		11094868	48034115	57	12452											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	177	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-KF-A41W-01A-11D-A24N-09	30079025	41173893	17955090	58	12453											
FUT1	2523	genome.wustl.edu	37	chr19	49253749	49253749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttacaccactccatgcCgttgctggtgaccacgaaaa	7	13	1	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr19:49253749C>T	ENST00000310160.3	-	4	1764	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	264					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CACTCCATGCCGTTGCTGGTG	0.617																																																	0								ENSG00000174951						129	109	116					19																	49253749		2203	4300	6503	FUT1	SO:0001583	missense	0			-	HGNC		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.790G>A	19.37:g.49253749C>T	ENSP00000312021:p.Gly264Ser	Somatic	0	87	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	56	37.78	O14505|O14506|O14507	Missense_Mutation	SNP							pfam_Glyco_trans_11	p.G264S	ENST00000310160.3	37	c.790	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059519	0.55325	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96830	-4.14	4.46	2.28	0.28536	.	0.233454	0.30193	N	0.010181	D	0.97046	0.9035	M	0.71036	2.16	0.35246	D	0.778223	D	0.89917	1.0	D	0.97110	1.0	D	0.97139	0.9823	10	0.72032	D	0.01	-2.4381	7.4126	0.27025	0.1661:0.743:0.0:0.0909	.	264	P19526	FUT1_HUMAN	S	264;254	ENSP00000312021:G264S	ENSP00000312021:G264S	G	-	1	0	FUT1	53945561	0.987000	0.35691	0.962000	0.40283	0.170000	0.22686	3.053000	0.49901	0.613000	0.30089	0.557000	0.71058	GGC	-	pfam_Glyco_trans_11		0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	protein_coding	OTTHUMT00000466194.1	C	NM_000148	-		49253749	-1	no_errors	ENST00000310160	ensembl	human	known	74_37	missense	SNP	0.988	T	T	49253749	C	T	49253749	3	4	177	1	0	0	0	0	1	0	0	0	6103	652	23	1	311	1	FUT1	19	49253749	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	8079856	49253749	9875234	59	12454											
TRPM4	54795	genome.wustl.edu	37	chr19	49713967	49713967	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccgcccgcccctgcagGggtttacctttctaaggaag	11	14	1	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr19:49713967G>A	ENST00000252826.5	+	22	3455	c.3329G>A	c.(3328-3330)cGg>cAg	p.R1110Q	TRPM4_ENST00000355712.5_Splice_Site_p.R756Q|TRPM4_ENST00000427978.2_Splice_Site_p.R965Q	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1110	Calmodulin-binding.				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)			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)		GCCCCTGCAGGGGTTTACCTT	0.617																																																	0								ENSG00000130529						31	39	36					19																	49713967		2199	4298	6497	TRPM4	SO:0001630	splice_region_variant	0			-	HGNC	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.3329-1G>A	19.37:g.49713967G>A		Somatic	0	79	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	71	36.04	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.R1110Q	ENST00000252826.5	37	c.3329	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974186	0.34848	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.50813	0.73;0.73;0.73	4.96	1.53	0.23141	.	0.557618	0.16542	N	0.209920	T	0.48519	0.1504	L	0.45581	1.43	0.26801	N	0.969206	D;D;D;D	0.58620	0.971;0.983;0.969;0.967	P;P;P;P	0.53649	0.543;0.731;0.649;0.522	T	0.36578	-0.9742	9	.	.	.	.	8.7436	0.34571	0.077:0.0:0.5521:0.3709	.	756;936;965;1110	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	Q	1110;965;756	ENSP00000252826:R1110Q;ENSP00000407492:R965Q;ENSP00000347944:R756Q	.	R	+	2	0	TRPM4	54405779	0.963000	0.33076	0.716000	0.30569	0.001000	0.01503	0.294000	0.19047	0.221000	0.20879	-2.048000	0.00412	CGG	-	NULL		0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	protein_coding	OTTHUMT00000465543.2	G	NM_017636	-	Missense_Mutation	49713967	1	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	SNP	0.799	A	A	49713967	G	A	49713967	5	1	177	1	0	0	0	0	0	0	1	0	16595	1246	43	2	3415	2	TRPM4	19	49713967	Splice_Site	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	460218	49713967	9415016	60	12455											
ZNF584	201514	genome.wustl.edu	37	chr19	58928651	58928651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccttcaaccgcaaagacGcacttgttctacaccagagg	7	13	2	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr19:58928651G>A	ENST00000306910.4	+	4	1289	c.766G>A	c.(766-768)Gca>Aca	p.A256T	CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.A211T|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	256					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(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		CCGCAAAGACGCACTTGTTCT	0.468																																																	0								ENSG00000171574						94	81	85					19																	58928651		2203	4300	6503	ZNF584	SO:0001583	missense	0			-	HGNC	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.766G>A	19.37:g.58928651G>A	ENSP00000306756:p.Ala256Thr	Somatic	0	45	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	15	55.88	A8K203	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A256T	ENST00000306910.4	37	c.766	CCDS12979.1	19	.	.	.	.	.	.	.	.	.	.	G	0.567	-0.842919	0.02671	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.36157	1.27	3.78	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19685	0.0473	L	0.27944	0.81	0.09310	N	1	P	0.43750	0.816	B	0.38880	0.284	T	0.08493	-1.0719	9	0.14656	T	0.56	.	5.8921	0.18919	0.0:0.1864:0.4315:0.3821	.	256	Q8IVC4	ZN584_HUMAN	T	256;115	ENSP00000306756:A256T	ENSP00000306756:A256T	A	+	1	0	ZNF584	63620463	0.000000	0.05858	0.015000	0.15790	0.289000	0.27227	-0.567000	0.05916	0.899000	0.36444	0.555000	0.69702	GCA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF584	protein_coding	OTTHUMT00000467022.1	G	NM_173548	-		58928651	1	no_errors	ENST00000306910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58928651	G	A	58928651	3	1	177	1	0	0	0	0	1	0	0	0	18023	1087	38	1	780	1	ZNF584	19	58928651	Missense_Mutation	SNP	G	TCGA-KF-A41W-01A-11D-A24N-09	9214684	58928651	200332	61	12456											
C20orf185	359710	genome.wustl.edu	37	chr20	31647706	31647706	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgcagcccccttggTggccttctgcagctggctgc	11	15	2	0			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr20:31647706T>G	ENST00000375494.3	+	4	396	c.396T>G	c.(394-396)ggT>ggG	p.G132G	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	132	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCCCCCTTGGTGGCCTTCTGC	0.677																																																	0								ENSG00000186190						50	38	42					20																	31647706		2203	4300	6503	BPIFB3	SO:0001819	synonymous_variant	0			-	HGNC	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.396T>G	20.37:g.31647706T>G		Somatic	0	46	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	Q5TDX7	Silent	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.G132	ENST00000375494.3	37	c.396	CCDS13212.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.677	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	protein_coding	OTTHUMT00000078654.2	T	NM_182658	-		31647706	1	no_errors	ENST00000375494	ensembl	human	known	74_37	silent	SNP	0.997	G	G	31647706	T	G	31647706	2	3	177	1	0	0	0	0	0	0	0	1	2099	1683	59	5		5	C20orf185	20	31647706	Silent	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09		31647706	31377814	62	12457											
MMP24	10893	genome.wustl.edu	37	chr20	33851607	33851607	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacagggaacgacctcttCctggtggctgtgcatgagct	12	12	1	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chr20:33851607C>T	ENST00000246186.6	+	5	916	c.831C>T	c.(829-831)ttC>ttT	p.F277F	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	277					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	ACGACCTCTTCCTGGTGGCTG	0.617																																																	0								ENSG00000125966						19	20	20					20																	33851607		2203	4300	6503	MMP24	SO:0001819	synonymous_variant	0			-	HGNC	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.831C>T	20.37:g.33851607C>T		Somatic	0	82	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	64	42.86	B7ZBG8|Q9H440	Silent	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.F277	ENST00000246186.6	37	c.831	CCDS46593.1	20																																																																																			-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.617	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	protein_coding	OTTHUMT00000078851.4	C	NM_006690	-		33851607	1	no_errors	ENST00000246186	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33851607	C	T	33851607	2	4	177	1	0	0	0	0	0	0	0	1	9663	854	30	2		2	MMP24	20	33851607	Silent	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	2203901	33851607	29173913	63	12458											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64722228	64722228	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctactattcaatgttaggTgacttctccaaactgaacat	7	9	2	2			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chrX:64722228T>A	ENST00000338957.4	+	5	1717	c.1650T>A	c.(1648-1650)ggT>ggA	p.G550G	ZC3H12B_ENST00000423889.3_Silent_p.G539G	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	550							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAATGTTAGGTGACTTCTCCA	0.478																																																	0								ENSG00000102053						48	45	46					X																	64722228		1931	4122	6053	ZC3H12B	SO:0001819	synonymous_variant	0			-	HGNC	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1650T>A	X.37:g.64722228T>A		Somatic	0	36	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	23	51.06	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP							pfam_RNase_Zc3h12	p.G550	ENST00000338957.4	37	c.1650	CCDS48131.2	X																																																																																			-	NULL		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	protein_coding	OTTHUMT00000378734.2	T	XM_293334	-		64722228	1	no_errors	ENST00000338957	ensembl	human	known	74_37	silent	SNP	0.745	A	A	64722228	T	A	64722228	2	1	177	1	0	0	0	0	0	0	0	1	17569	1683	59	5		5	ZC3H12B	23	64722228	Silent	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09		64722228	90548332	64	12459											
ATRX	546	genome.wustl.edu	37	chrX	76872172	76872172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgttttggaggcaagaaTtttgttaatgctgtataatc	10	4	0	1			TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chrX:76872172T>A	ENST00000373344.5	-	22	5689	c.5475A>T	c.(5473-5475)aaA>aaT	p.K1825N	ATRX_ENST00000395603.3_Missense_Mutation_p.K1787N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1825					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAGGCAAGAATTTTGTTAATG	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						121	107	112					X																	76872172		2202	4291	6493	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5475A>T	X.37:g.76872172T>A	ENSP00000362441:p.Lys1825Asn	Somatic	0	84	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1825N	ENST00000373344.5	37	c.5475	CCDS14434.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.51|12.51	1.960493|1.960493	0.34565|0.34565	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.94000|.	-3.33;-3.33|.	5.66|5.66	3.88|3.88	0.44766|0.44766	SNF2-related (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.60301|0.60301	0.2258|0.2258	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.91635|.	0.999;0.969|.	T|T	0.54629|0.54629	-0.8265|-0.8265	10|5	0.37606|.	T|.	0.19|.	-8.825|-8.825	11.0114|11.0114	0.47665|0.47665	0.0:0.8429:0.0:0.1571|0.0:0.8429:0.0:0.1571	.|.	1787;1825|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	N|I	1825;1787|114	ENSP00000362441:K1825N;ENSP00000378967:K1787N|.	ENSP00000362441:K1825N|.	K|N	-|-	3|2	2|0	ATRX|ATRX	76758828|76758828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.788000|1.788000	0.38714|0.38714	0.535000|0.535000	0.28714|0.28714	-0.488000|-0.488000	0.04728|0.04728	AAA|AAT	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489	-		76872172	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76872172	T	A	76872172	3	1	177	1	0	0	0	0	1	0	0	0	1208	1490	52	5	2059	5	ATRX	23	76872172	Missense_Mutation	SNP	T	TCGA-KF-A41W-01A-11D-A24N-09	12149944	76872172	78398388	65	12460											
BCORL1	63035	genome.wustl.edu	37	chrX	129147377	129147377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtccccctgctcccggttCggcctctgtgccccactctg	9	20	2	0	rs267606346		TCGA-KF-A41W-01A-11D-A24N-09	TCGA-KF-A41W-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc	0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7	g.chrX:129147377C>T	ENST00000218147.7	+	4	826	c.629C>T	c.(628-630)tCg>tTg	p.S210L	BCORL1_ENST00000303743.5_Missense_Mutation_p.S210L|BCORL1_ENST00000359304.2_Missense_Mutation_p.S210L|BCORL1_ENST00000540052.1_Missense_Mutation_p.S210L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	210	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						GCTCCCGGTTCGGCCTCTGTG	0.617													C|||	1	0.000264901	0	0	3775	,	,		12943	0		0	False		,,,				2504	0.001																0								ENSG00000085185						137	124	128					X																	129147377		2203	4300	6503	BCORL1	SO:0001583	missense	0			-	HGNC	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.629C>T	X.37:g.129147377C>T	ENSP00000218147:p.Ser210Leu	Somatic	0	24	0		0.622876187456541				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S210L	ENST00000218147.7	37	c.629	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736708	0.30774	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.48201	0.84;1.21;0.82;0.84	4.72	4.72	0.59763	.	0.290929	0.18770	N	0.131657	T	0.27063	0.0663	N	0.08118	0	0.23243	N	0.998058	B;B	0.31581	0.322;0.329	B;B	0.23018	0.043;0.019	T	0.06698	-1.0812	9	.	.	.	-3.162	16.544	0.84409	0.0:1.0:0.0:0.0	.	210;210	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	210	ENSP00000218147:S210L;ENSP00000307541:S210L;ENSP00000352253:S210L;ENSP00000437775:S210L	.	S	+	2	0	BCORL1	128975058	0.562000	0.26586	0.172000	0.22920	0.117000	0.20001	3.109000	0.50345	1.917000	0.55516	0.436000	0.28706	TCG	-	NULL		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	C	NM_021946	-		129147377	1	no_errors	ENST00000303743	ensembl	human	known	74_37	missense	SNP	0.476	T	T	129147377	C	T	129147377	3	4	177	1	0	0	0	0	1	0	0	0	1387	893	31	1	639	1	BCORL1	23	129147377	Missense_Mutation	SNP	C	TCGA-KF-A41W-01A-11D-A24N-09	52275205	129147377	26123183	66	12461											
GLIS1	148979	genome.wustl.edu	37	chr1	54060320	54060320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggatgatggaggtgaCgtcggaggaggcacagggtg	22	5	0	2	rs375119770		TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr1:54060320C>T	ENST00000312233.2	-	3	822	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ATGGAGGTGACGTCGGAGGAG	0.677																																																	0								ENSG00000174332	C	ILE/VAL	0,4366		0,0,2183	22	24	23		256	-2.7	0	1		23	2,8508		0,2,4253	no	missense	GLIS1	NM_147193.2	29	0,2,6436	TT,TC,CC		0.0235,0.0,0.0155	benign	86/621	54060320	2,12874	2183	4255	6438	GLIS1	SO:0001583	missense	0			-	HGNC	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.256G>A	1.37:g.54060320C>T	ENSP00000309653:p.Val86Ile	Somatic	0	160	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	110	129	45.83		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V86I	ENST00000312233.2	37	c.256	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	C	1.188	-0.636164	0.03557	0.0	2.35E-4	ENSG00000174332	ENST00000312233	T	0.06768	3.26	4.53	-2.72	0.05968	.	1.439070	0.04405	N	0.364996	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43065	-0.9414	10	0.02654	T	1	.	11.5804	0.50887	0.0:0.5575:0.0:0.4425	.	86	Q8NBF1	GLIS1_HUMAN	I	86	ENSP00000309653:V86I	ENSP00000309653:V86I	V	-	1	0	GLIS1	53832908	0.001000	0.12720	0.046000	0.18839	0.987000	0.75469	-0.105000	0.10907	-0.444000	0.07170	0.563000	0.77884	GTC	-	NULL		0.677	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	protein_coding	OTTHUMT00000022109.1	C	NM_147193	-		54060320	-1	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	SNP	0.002	T	T	54060320	C	T	54060320	3	4	178	1	0	0	0	0	1	0	0	0	6447	536	19	1	1638	1	GLIS1	1	54060320	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		54060320	195190301	1	12462											
CCDC19	25790	genome.wustl.edu	37	chr1	159846347	159846347	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcccaggcccctcctaccGaagaatcctctcgaactcat	6	17	2	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr1:159846347G>A	ENST00000368099.4	-	10	1415	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CCDC19_ENST00000426543.2_Splice_Site_p.R366W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCCTCCTACCGAAGAATCCTC	0.532																																																	0								ENSG00000213085						74	71	72					1																	159846347		2203	4300	6503	CCDC19	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000368099.4:c.1352+1C>T	1.37:g.159846347G>A		Somatic	1	109	0.91		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	18	75.68		Missense_Mutation	SNP							NULL	p.R451W	ENST00000368099.4	37	c.1351	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.949467	0.73787	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10477	2.87;2.87	5.16	3.18	0.36537	.	0.325231	0.34046	N	0.004306	T	0.19604	0.0471	M	0.77820	2.39	0.42943	D	0.99435	D	0.89917	1.0	D	0.85130	0.997	T	0.00149	-1.1987	9	.	.	.	-20.446	7.2612	0.26203	0.0:0.1555:0.555:0.2895	.	451	Q9UL16	CCD19_HUMAN	W	451;366	ENSP00000357079:R451W;ENSP00000403044:R366W	.	R	-	1	2	CCDC19	158112971	0.986000	0.35501	1.000000	0.80357	0.953000	0.61014	0.904000	0.28491	2.571000	0.86741	0.486000	0.48141	CGG	-	NULL		0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	protein_coding	OTTHUMT00000085979.1	G		-	Missense_Mutation	159846347	-1	no_errors	ENST00000368099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	159846347	G	A	159846347	5	1	178	1	0	0	0	0	0	0	1	0	2797	1072	37	1	316	1	CCDC19	1	159846347	Splice_Site	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	105786027	159846347	89404274	2	12463											
KLRAQ1	129285	genome.wustl.edu	37	chr2	48734478	48734478	+	Missense_Mutation	SNP	C	C	T													aaggatagtggaacttacgtCtcagttgcagctggctgaca							TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr2:48734478C>T	ENST00000294952.8	+	19	2196	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S669F|PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S638F	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	680						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GAACTTACGTCTCAGTTGCAG	0.383																																																	0								ENSG00000162869						162	145	151					2																	48734478		2203	4300	6503	PPP1R21	SO:0001583	missense	0			-	HGNC	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2039C>T	2.37:g.48734478C>T	ENSP00000294952:p.Ser680Phe	Somatic	0	203	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	151	29.11	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP							pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.S680F	ENST00000294952.8	37	c.2039	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407072	0.83230	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.01	5.01	0.66863	.	0.049827	0.85682	D	0.000000	T	0.74604	0.3738	L	0.59436	1.845	0.50039	D	0.999847	D;D;D	0.58970	0.966;0.984;0.958	P;P;P	0.62184	0.69;0.899;0.563	T	0.72814	-0.4179	9	0.40728	T	0.16	-12.3636	18.8654	0.92290	0.0:1.0:0.0:0.0	.	638;680;669	E1B6W7;Q6ZMI0;Q6ZMI0-2	.;PPR21_HUMAN;.	F	669;680;638	.	ENSP00000281394:S669F	S	+	2	0	KLRAQ1	48587982	0.998000	0.40836	0.423000	0.26634	0.964000	0.63967	7.045000	0.76585	2.751000	0.94390	0.655000	0.94253	TCT	-	pfam_KLRAQ/TTKRSYEDQ_C		0.383	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	protein_coding	OTTHUMT00000251238.4	C	NM_152994	-		48734478	1	no_errors	ENST00000294952	ensembl	human	known	74_37	missense	SNP	0.923	T	T	48734478	C	T	48734478	3	4	178	1	0	0	0	0	1	0	0	0	8415	913	32	2	2113	2	KLRAQ1	2	48734478	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		48734478	194464895	3	12464	191	2									
KLRAQ1	129285	genome.wustl.edu	37	chr2	48734480	48734480	+	Nonsense_Mutation	SNP	C	C	T													ggatagtggaacttacgtctCagttgcagctggctgacagt							TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr2:48734480C>T	ENST00000294952.8	+	19	2198	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q670*|PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q639*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	681						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ACTTACGTCTCAGTTGCAGCT	0.388																																																	0								ENSG00000162869						159	142	148					2																	48734480		2203	4300	6503	PPP1R21	SO:0001587	stop_gained	0			-	HGNC	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2041C>T	2.37:g.48734480C>T	ENSP00000294952:p.Gln681*	Somatic	0	208	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	149	29.05	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP							pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.Q681*	ENST00000294952.8	37	c.2041	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.402834	0.98796	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.01	5.01	0.66863	.	0.102965	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-17.7888	18.8654	0.92290	0.0:1.0:0.0:0.0	.	.	.	.	X	670;681;639	.	ENSP00000281394:Q670X	Q	+	1	0	KLRAQ1	48587984	1.000000	0.71417	0.895000	0.35142	0.968000	0.65278	7.045000	0.76585	2.751000	0.94390	0.655000	0.94253	CAG	-	pfam_KLRAQ/TTKRSYEDQ_C		0.388	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	protein_coding	OTTHUMT00000251238.4	C	NM_152994	-		48734480	1	no_errors	ENST00000294952	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48734480	C	T	48734480	4	4	178	1	0	0	0	0	0	1	0	0	8415	827	29	2	2115	2	KLRAQ1	2	48734480	Nonsense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	2	48734480	194464893	4	12465	191	2									
BCL11A	53335	genome.wustl.edu	37	chr2	60688425	60688425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgacgtcgggcagggcgCggctctcgtcgcccacgccc	15	17	1	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr2:60688425C>T	ENST00000335712.6	-	4	1849	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.R541H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.R507H|BCL11A_ENST00000358510.4_Missense_Mutation_p.R507H|BCL11A_ENST00000537768.1_Missense_Mutation_p.R210H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	541					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGCAGGGCGCGGCTCTCGTC	0.701			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0								ENSG00000119866						16	16	16					2																	60688425		2192	4280	6472	BCL11A	SO:0001583	missense	0			-	HGNC	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1622G>A	2.37:g.60688425C>T	ENSP00000338774:p.Arg541His	Somatic	0	22	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	7	63.16	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R541H	ENST00000335712.6	37	c.1622	CCDS1862.1	2	.	.	.	.	.	.	.	.	.	.	C	0.571	-0.841169	0.02692	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09163	3.01;3.28;3.18;3.29;3.22	5.46	4.59	0.56863	.	3.037560	0.01050	N	0.004455	T	0.28466	0.0704	L	0.54323	1.7	0.53688	D	0.999979	D;P;P;D;D	0.76494	0.998;0.874;0.53;0.999;0.999	P;B;B;P;P	0.58013	0.831;0.116;0.231;0.769;0.769	T	0.00205	-1.1922	10	0.35671	T	0.21	-3.0723	12.1836	0.54226	0.0:0.9202:0.0:0.0798	.	507;210;507;541;541	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	541;566;507;210;541;507	ENSP00000349300:R541H;ENSP00000438303:R507H;ENSP00000443712:R210H;ENSP00000338774:R541H;ENSP00000351307:R507H	ENSP00000338774:R541H	R	-	2	0	BCL11A	60541929	0.998000	0.40836	0.966000	0.40874	0.038000	0.13279	3.505000	0.53356	1.313000	0.45069	-0.142000	0.14014	CGC	-	NULL		0.701	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	protein_coding	OTTHUMT00000251579.2	C	NM_022893	-		60688425	-1	no_errors	ENST00000335712	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60688425	C	T	60688425	3	4	178	1	0	0	0	0	1	0	0	0	1363	768	27	1	995	1	BCL11A	2	60688425	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	11953945	60688425	182510948	5	12466											
TEKT4	150483	genome.wustl.edu	37	chr2	95540568	95540568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacgcaggacaatctgtGccgtgcccagcgcgagcgcc	13	15	2	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr2:95540568G>A	ENST00000295201.4	+	4	898	c.761G>A	c.(760-762)tGc>tAc	p.C254Y	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	254					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACAATCTGTGCCGTGCCCAG	0.721																																																	0								ENSG00000163060						19	23	21					2																	95540568		2192	4291	6483	TEKT4	SO:0001583	missense	0			-	HGNC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.761G>A	2.37:g.95540568G>A	ENSP00000295201:p.Cys254Tyr	Somatic	0	298	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	154	52	74.76		Missense_Mutation	SNP							pfam_Tektin,prints_Tektin	p.C254Y	ENST00000295201.4	37	c.761	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.962157	0.00049	.	.	ENSG00000163060	ENST00000295201	T	0.02345	4.33	2.18	-4.36	0.03645	.	1.035520	0.07578	N	0.919703	T	0.01156	0.0038	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47262	-0.9131	10	0.36615	T	0.2	-5.3851	2.9338	0.05808	0.4031:0.0:0.1656:0.4312	.	254	Q8WW24	TEKT4_HUMAN	Y	254	ENSP00000295201:C254Y	ENSP00000295201:C254Y	C	+	2	0	TEKT4	94904295	0.000000	0.05858	0.030000	0.17652	0.090000	0.18270	-0.784000	0.04633	-1.727000	0.01368	0.466000	0.42574	TGC	-	pfam_Tektin		0.721	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	protein_coding	OTTHUMT00000252777.1	G	NM_144705	-		95540568	1	no_errors	ENST00000295201	ensembl	human	known	74_37	missense	SNP	0.001	A	A	95540568	G	A	95540568	3	1	178	1	0	0	0	0	1	0	0	0	15762	1319	46	2	775	2	TEKT4	2	95540568	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	34852143	95540568	147658805	6	12467											
EIF5B	9669	genome.wustl.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-													gtggaaatgtactctgggagTgatgatgatgatgattttaa							TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)												0								ENSG00000158417																																			EIF5B	SO:0001651	inframe_deletion	0				HGNC	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del	Somatic	0	33	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL							pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.D141in_frame_del	ENST00000289371.6	37	c.411_413	CCDS42721.1	2																																																																																			-	NULL		0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	protein_coding	OTTHUMT00000330364.2	TGA	NM_015904			99977777	1	no_errors	ENST00000289371	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	99977777	TGA	-	99977775	7	5	178	1	0	1	0	1	0	0	0	0	5046	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-LI-A67I-01A-31D-A307-09	4437207	99977775	143221598	7	12468											
SCN5A	6331	genome.wustl.edu	37	chr3	38592282	38592282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagactcccccaggaCccttttggtgaaggcaaaga	9	15	0	3	rs199473636		TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr3:38592282C>A	ENST00000333535.4	-	28	5730	c.5581G>T	c.(5581-5583)Gtc>Ttc	p.V1861F	SCN5A_ENST00000451551.2_Missense_Mutation_p.V1807F|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1860F|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1861F|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1807F|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1860F|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1828F|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1843F|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1843F|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1807F|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1861	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCCAGGACCCTTTTGGTG	0.562																																																	0								ENSG00000183873						139	147	144					3																	38592282		2064	4212	6276	SCN5A	SO:0001583	missense	0			-	HGNC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5581G>T	3.37:g.38592282C>A	ENSP00000328968:p.Val1861Phe	Somatic	1	265	0.38		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	111	43.08	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V1861F	ENST00000333535.4	37	c.5581	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733430	0.69189	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96940	-4.04;-4.06;-4.06;-4.14;-4.06;-4.04;-4.06;-4.18;-4.14;-4.14	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;0.993;0.996;0.998;1.0;0.999	D	0.96791	0.9582	10	0.32370	T	0.25	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	1807;1828;1843;1861;1860;1861	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	F	1843;1860;1861;1807;1860;1843;1861;1828;1807;1807	ENSP00000398962:V1843F;ENSP00000398266:V1860F;ENSP00000410257:V1861F;ENSP00000388797:V1807F;ENSP00000397915:V1860F;ENSP00000416634:V1843F;ENSP00000328968:V1861F;ENSP00000399524:V1828F;ENSP00000403355:V1807F;ENSP00000413996:V1807F	ENSP00000328968:V1861F	V	-	1	0	SCN5A	38567286	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	7.646000	0.83445	2.504000	0.84457	0.563000	0.77884	GTC	-	NULL		0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	C	NM_198056	-		38592282	-1	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38592282	C	A	38592282	3	1	178	1	0	0	0	0	1	0	0	0	13930	507	18	3	473	3	SCN5A	3	38592282	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		38592282	159430148	8	12469											
TM4SF1	4071	genome.wustl.edu	37	chr3	149093526	149093526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcagtcatcctgttccaGcccaatgaagacaaatgctg	8	12	1	2	rs11555560		TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr3:149093526G>T	ENST00000305366.3	-	2	525	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1_ENST00000472441.1_5'Flank	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	70						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCTGTTCCAGCCCAATGAAG	0.502																																																	0								ENSG00000169908						153	135	141					3																	149093526		2203	4300	6503	TM4SF1	SO:0001583	missense	0			-	HGNC	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.208C>A	3.37:g.149093526G>T	ENSP00000304277:p.Leu70Met	Somatic	0	55	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	Q6IB51	Missense_Mutation	SNP							pfam_L6_membrane	p.L70M	ENST00000305366.3	37	c.208	CCDS3143.1	3	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908318	0.52333	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	T	0.34472	1.36	5.77	1.95	0.26073	.	0.113866	0.38605	N	0.001630	T	0.34513	0.0900	L	0.49571	1.57	0.80722	D	1	P	0.47604	0.898	P	0.47573	0.55	T	0.05484	-1.0882	10	0.49607	T	0.09	-4.5099	6.6614	0.23016	0.2525:0.0:0.6332:0.1143	.	70	P30408	T4S1_HUMAN	M	70	ENSP00000304277:L70M	ENSP00000304277:L70M	L	-	1	2	TM4SF1	150576216	0.877000	0.30153	0.322000	0.25334	0.979000	0.70002	1.190000	0.32126	0.350000	0.24002	0.655000	0.94253	CTG	-	pfam_L6_membrane		0.502	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	protein_coding	OTTHUMT00000356368.1	G		-		149093526	-1	no_errors	ENST00000305366	ensembl	human	known	74_37	missense	SNP	0.536	T	T	149093526	G	T	149093526	3	4	178	1	0	0	0	0	1	0	0	0	15973	962	34	3	416	3	TM4SF1	3	149093526	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	110501244	149093526	48928904	9	12470											
UGT2B11	10720	genome.wustl.edu	37	chr4	70079984	70079984	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaccacagggaaaaaCagcatctgcaaaaacgatgt	8	11	2	0	rs139371276	byFrequency	TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr4:70079984C>G	ENST00000446444.1	-	1	465	c.457G>C	c.(457-459)Gtt>Ctt	p.V153L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	153					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGGAAAAACAGCATCTGCA	0.393													.|||	14	0.00279553	0.0098	0.0014	5008	,	,		19126	0		0	False		,,,				2504	0																0								ENSG00000213759	A	LEU/VAL	37,4369		0,37,2166	127	125	125		457	-3.9	0	4	dbSNP_134	125	1,8597		0,1,4298	no	missense	UGT2B11	NM_001073.1	32	0,38,6464	GG,GC,CC		0.0116,0.8398,0.2922	benign	153/530	70079984	38,12966	2203	4299	6502	UGT2B11	SO:0001583	missense	0			-	HGNC	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.457G>C	4.37:g.70079984C>G	ENSP00000387683:p.Val153Leu	Somatic	0	250	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	178	57	75.74	Q3KNV9	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V153L	ENST00000446444.1	37	c.457	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.224876	0.00283	0.008398	1.16E-4	ENSG00000213759	ENST00000446444	T	0.63580	-0.05	1.96	-3.91	0.04168	.	1.117190	0.07132	U	0.845681	T	0.33498	0.0865	N	0.20483	0.58	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.11324	-1.0592	10	0.23302	T	0.38	.	6.5423	0.22387	0.2739:0.5443:0.0:0.1818	.	153	O75310	UDB11_HUMAN	L	153	ENSP00000387683:V153L	ENSP00000387683:V153L	V	-	1	0	UGT2B11	70114573	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-8.771000	0.00017	-4.934000	0.00026	-3.955000	0.00015	GTT	-	pfam_UDP_glucos_trans		0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	protein_coding	OTTHUMT00000251551.2	C	NM_001073	rs139371276		70079984	-1	no_errors	ENST00000446444	ensembl	human	known	74_37	missense	SNP	0.000	G	G	70079984	C	G	70079984	3	3	178	1	0	0	0	0	1	0	0	0	16964	478	17	4	1156	4	UGT2B11	4	70079984	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		70079984	121074292	10	12471											
AP1AR	55435	genome.wustl.edu	37	chr4	113189426	113189439	+	Frame_Shift_Del	DEL	GGCTGGAGTGGGAA	GGCTGGAGTGGGAA	-													agcctctgatgattccaatgGgctggagtgggaaaatgatt							TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	GGCTGGAGTGGGAA	GGCTGGAGTGGGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr4:113189426_113189439delGGCTGGAGTGGGAA	ENST00000274000.5	+	10	1125_1138	c.770_783delGGCTGGAGTGGGAA	c.(769-783)gggctggagtgggaafs	p.GLEWE257fs	AP1AR_ENST00000309703.6_Frame_Shift_Del_p.GLEWE224fs	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	257					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						GATTCCAATGGGCTGGAGTGGGAAAATGATTTTG	0.407																																																	0								ENSG00000138660																																			AP1AR	SO:0001589	frameshift_variant	0				HGNC	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.770_783delGGCTGGAGTGGGAA	4.37:g.113189426_113189439delGGCTGGAGTGGGAA	ENSP00000274000:p.Gly257fs	Somatic					0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Frame_Shift_Del	DEL							NULL	p.G257fs	ENST00000274000.5	37	c.770_783	CCDS3696.1	4																																																																																			-	NULL		0.407	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1AR	protein_coding	OTTHUMT00000256323.2	GGCTGGAGTGGGAA	NM_018569			113189439	1	no_errors	ENST00000274000	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.976:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	113189439	GGCTGGAGTGGGAA	-	113189426	7	5	178	1	0	1	0	1	0	0	0	0	730	1232	43	0	808	0	AP1AR	4	113189426	Frame_Shift_Del	DEL	GGCTGGAGTGGGAA	TCGA-LI-A67I-01A-31D-A307-09	43109442	113189426	77964850	11	12472											
MAML3	55534	genome.wustl.edu	37	chr4	140641346	140641346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccgactgcgcagctgCggtggccatcgtcccagggt	13	15	1	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr4:140641346C>T	ENST00000509479.2	-	5	3404	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGCGCAGCTGCGGTGGCCATC	0.587																																																	0								ENSG00000196782						202	208	206					4																	140641346		2133	4253	6386	MAML3	SO:0001583	missense	0			-	HGNC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2548G>A	4.37:g.140641346C>T	ENSP00000421180:p.Ala850Thr	Somatic	0	68	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	14	80.00		Missense_Mutation	SNP							pfam_Neuroggenic_mastermind-like_N	p.A850T	ENST00000509479.2	37	c.2548	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	C	0.702	-0.790350	0.02884	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.24350	1.86	5.81	4.07	0.47477	.	0.319207	0.29480	N	0.012021	T	0.16557	0.0398	L	0.38838	1.175	0.50171	D	0.999853	B;B	0.13145	0.007;0.007	B;B	0.06405	0.002;0.002	T	0.08432	-1.0722	10	0.15066	T	0.55	.	6.5435	0.22392	0.256:0.6085:0.0:0.1355	.	850;846	E7EVW8;Q96JK9	.;MAML3_HUMAN	T	850;157	ENSP00000421180:A850T	ENSP00000421180:A850T	A	-	1	0	MAML3	140860796	0.164000	0.22935	0.033000	0.17914	0.055000	0.15305	0.521000	0.22893	0.773000	0.33404	0.655000	0.94253	GCA	-	NULL		0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	C		-		140641346	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	missense	SNP	0.170	T	T	140641346	C	T	140641346	3	4	178	1	0	0	0	0	1	0	0	0	9209	768	27	1	872	1	MAML3	4	140641346	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	27451920	140641346	50512930	12	12473											
ITGA1	3672	genome.wustl.edu	37	chr5	52177853	52177853	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttggaatagacacagcaaGgtatatggataaaaaaataa	8	4	1	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr5:52177853G>T	ENST00000282588.6	+	7	1231	c.773G>T	c.(772-774)aGa>aTa	p.R258I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	258	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GACACAGCAAGGTATATGGAT	0.353																																																	0								ENSG00000213949						47	50	49					5																	52177853		2203	4300	6503	ITGA1	SO:0001630	splice_region_variant	0			-	HGNC	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.773+1G>T	5.37:g.52177853G>T		Somatic	0	36	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	B2RNU0	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R258I	ENST00000282588.6	37	c.773	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.199645	0.94997	.	.	ENSG00000213949	ENST00000282588	D	0.82984	-1.67	5.31	5.31	0.75309	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83499	0.0074	10	0.18710	T	0.47	.	18.9654	0.92694	0.0:0.0:1.0:0.0	.	258	P56199	ITA1_HUMAN	I	258	ENSP00000282588:R258I	ENSP00000282588:R258I	R	+	2	0	ITGA1	52213610	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.359000	0.79477	2.639000	0.89480	0.609000	0.83330	AGA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.353	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	protein_coding	OTTHUMT00000253855.3	G	NM_181501	-	Missense_Mutation	52177853	1	no_errors	ENST00000282588	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52177853	G	T	52177853	5	4	178	1	0	0	0	0	0	0	1	0	7874	1014	35	3	799	3	ITGA1	5	52177853	Splice_Site	SNP	G	TCGA-LI-A67I-01A-31D-A307-09		52177853	128737407	13	12474											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801354	140801354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaactgcggggcagaaCggatggggccaagaatccag	15	10	0	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr5:140801354C>T	ENST00000398587.2	+	1	593	c.560C>T	c.(559-561)aCg>aTg	p.T187M	PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T187M|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	187	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.T187M(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGCAGAACGGATGGGGCC	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000253873						38	40	40					5																	140801354		1959	4156	6115	PCDHGA11	SO:0001583	missense	0			-	HGNC	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.560C>T	5.37:g.140801354C>T	ENSP00000381589:p.Thr187Met	Somatic	0	39	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T187M	ENST00000398587.2	37	c.560	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	c	0.111	-1.138391	0.01742	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.21191	2.02;2.02	6.03	2.31	0.28768	Cadherin (3);Cadherin-like (1);	0.376486	0.14673	U	0.305202	T	0.17238	0.0414	M	0.61703	1.905	0.09310	N	1	P;B;B	0.34815	0.47;0.4;0.451	B;B;B	0.28784	0.069;0.094;0.064	T	0.21690	-1.0238	10	0.51188	T	0.08	.	3.7329	0.08500	0.0898:0.473:0.1984:0.2387	.	187;187;187	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	187	ENSP00000381589:T187M;ENSP00000428333:T187M	ENSP00000381589:T187M	T	+	2	0	PCDHGA11	140781538	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.650000	0.05378	-0.044000	0.13491	-0.797000	0.03246	ACG	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	protein_coding	OTTHUMT00000376974.1	C	NM_018914	-		140801354	1	no_errors	ENST00000398587	ensembl	human	known	74_37	missense	SNP	0.000	T	T	140801354	C	T	140801354	3	4	178	1	0	0	0	0	1	0	0	0	11554	536	19	1	562	1	PCDHGA11	5	140801354	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	88623501	140801354	40113906	14	12475											
PCDH12	51294	genome.wustl.edu	37	chr5	141335172	141335172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcccgacagttgtaggCcctgttgtccttcttttctg	10	13	2	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr5:141335172C>T	ENST00000231484.3	-	1	3455	c.2245G>A	c.(2245-2247)Gcc>Acc	p.A749T	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	749					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTGTAGGCCCTGTTGTCC	0.572																																																	0								ENSG00000113555						69	60	63					5																	141335172		2203	4300	6503	PCDH12	SO:0001583	missense	0			-	HGNC	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2245G>A	5.37:g.141335172C>T	ENSP00000231484:p.Ala749Thr	Somatic	0	76	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A749T	ENST00000231484.3	37	c.2245	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362786	0.41902	.	.	ENSG00000113555	ENST00000231484	T	0.52983	0.64	4.9	4.9	0.64082	.	0.058951	0.64402	D	0.000002	T	0.48909	0.1526	M	0.66939	2.045	0.45634	D	0.998565	D	0.56035	0.974	P	0.47673	0.554	T	0.41088	-0.9528	10	0.22706	T	0.39	.	10.6323	0.45543	0.1912:0.8088:0.0:0.0	.	749	Q9NPG4	PCD12_HUMAN	T	749	ENSP00000231484:A749T	ENSP00000231484:A749T	A	-	1	0	PCDH12	141315356	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.888000	0.48594	2.571000	0.86741	0.561000	0.74099	GCC	-	NULL		0.572	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	protein_coding	OTTHUMT00000251858.1	C	NM_016580	-		141335172	-1	no_errors	ENST00000231484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141335172	C	T	141335172	3	4	178	1	0	0	0	0	1	0	0	0	11512	739	26	2	1325	2	PCDH12	5	141335172	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	533818	141335172	39580088	15	12476											
DDX41	51428	genome.wustl.edu	37	chr5	176938889	176938889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggggcagtcagtgatcCgatgacccaggcccccgcag	14	13	1	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr5:176938889C>T	ENST00000507955.1	-	17	2295	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	591					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)					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)			GTCAGTGATCCGATGACCCAG	0.622																																																	0								ENSG00000183258						86	81	82					5																	176938889		2203	4300	6503	DDX41	SO:0001583	missense	0			-	HGNC	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.1772G>A	5.37:g.176938889C>T	ENSP00000422753:p.Arg591Gln	Somatic	0	87	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	53	48.04	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R591Q	ENST00000507955.1	37	c.1772	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.234815	0.95207	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.76316	-1.01;-1.01	5.89	4.11	0.48088	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.121727	0.56097	N	0.000021	D	0.89399	0.6704	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90578	0.4527	10	0.87932	D	0	-15.4515	12.4707	0.55785	0.0:0.8643:0.0:0.1357	.	591	Q9UJV9	DDX41_HUMAN	Q	609;591	ENSP00000330349:R609Q;ENSP00000422753:R591Q	ENSP00000330349:R609Q	R	-	2	0	DDX41	176871495	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.306000	0.78905	0.827000	0.34685	0.655000	0.94253	CGG	-	superfamily_Znf_CCHC		0.622	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	protein_coding	OTTHUMT00000253432.2	C	NM_016222	-		176938889	-1	no_errors	ENST00000507955	ensembl	human	known	74_37	missense	SNP	0.999	T	T	176938889	C	T	176938889	3	4	178	1	0	0	0	0	1	0	0	0	4363	652	23	1	100	1	DDX41	5	176938889	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	35603717	176938889	3976371	16	12477											
ALDH5A1	7915	genome.wustl.edu	37	chr6	24502780	24502780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattacttcggaagtggtaCaatttaatgatacaaaataa	6	5	1	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr6:24502780C>T	ENST00000357578.3	+	2	529	c.384C>T	c.(382-384)taC>taT	p.Y128Y	ALDH5A1_ENST00000348925.2_Silent_p.Y128Y|ALDH5A1_ENST00000546278.1_Silent_p.Y40Y|ALDH5A1_ENST00000491546.1_Intron	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	128					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GGAAGTGGTACAATTTAATGA	0.368																																																	0			GRCh37	CM033317	ALDH5A1	M		ENSG00000112294						133	122	126					6																	24502780		2203	4300	6503	ALDH5A1	SO:0001819	synonymous_variant	0			-	HGNC	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.384C>T	6.37:g.24502780C>T		Somatic	0	189	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	105	74	58.66	B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.Y128	ENST00000357578.3	37	c.384	CCDS4555.1	6																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH		0.368	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	protein_coding	OTTHUMT00000040007.2	C		-		24502780	1	no_errors	ENST00000348925	ensembl	human	known	74_37	silent	SNP	0.989	T	T	24502780	C	T	24502780	2	4	178	1	0	0	0	0	0	0	0	1	502	489	17	2		2	ALDH5A1	6	24502780	Silent	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		24502780	146612287	17	12478											
BAT2	7916	genome.wustl.edu	37	chr6	31599565	31599565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccagagggaggggttttCgggggacctatgggggacga	20	6	0	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr6:31599565C>T	ENST00000376033.2	+	16	3349	c.3115C>T	c.(3115-3117)Cgg>Tgg	p.R1039W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1039W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1039	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAGGGGTTTTCGGGGGACCTA	0.632																																																	0								ENSG00000204469						12	16	14					6																	31599565		1504	2701	4205	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3115C>T	6.37:g.31599565C>T	ENSP00000365201:p.Arg1039Trp	Somatic	1	161	0.61		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	110	25.68	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.R1039W	ENST00000376033.2	37	c.3115	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361179	0.24684	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02345	4.33;4.33	5.04	4.1	0.47936	.	0.000000	0.46758	D	0.000277	T	0.07234	0.0183	L	0.55213	1.73	0.47123	D	0.999328	D	0.89917	1.0	D	0.87578	0.998	T	0.07214	-1.0784	10	0.87932	D	0	-6.3657	14.7418	0.69461	0.1542:0.8458:0.0:0.0	.	1039	P48634	PRC2A_HUMAN	W	1039;1028;1039;1039;264	ENSP00000365175:R1039W;ENSP00000365201:R1039W	ENSP00000365175:R1039W	R	+	1	2	PRRC2A	31707544	0.952000	0.32445	1.000000	0.80357	0.998000	0.95712	0.562000	0.23531	2.640000	0.89533	0.655000	0.94253	CGG	-	NULL		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	C	NM_080686	-		31599565	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31599565	C	T	31599565	3	4	178	1	0	0	0	0	1	0	0	0	1319	875	31	1	3173	1	BAT2	6	31599565	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	7096785	31599565	139515502	18	12479											
CRIP3	401262	genome.wustl.edu	37	chr6	43275460	43275460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggattgtacaagtaggagCctacaccaccaatgttcacc	10	11	1	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr6:43275460C>T	ENST00000274990.4	-	4	222	c.218G>A	c.(217-219)gGc>gAc	p.G73D	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000372569.3_Missense_Mutation_p.G73D			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	73					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAAGTAGGAGCCTACACCACC	0.627																																																	0								ENSG00000146215						45	49	48					6																	43275460		2203	4300	6503	CRIP3	SO:0001583	missense	0			-	HGNC	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.218G>A	6.37:g.43275460C>T	ENSP00000274990:p.Gly73Asp	Somatic	0	137	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	107	28.67	A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G73D	ENST00000274990.4	37	c.218		6	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899114	0.72754	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	D;D	0.92595	-3.07;-3.07	5.52	4.66	0.58398	.	0.066033	0.64402	D	0.000017	D	0.90349	0.6980	N	0.24115	0.695	0.58432	D	0.99999	D;D	0.89917	0.991;1.0	P;D	0.97110	0.634;1.0	D	0.92517	0.6021	10	0.87932	D	0	-29.7215	12.2124	0.54388	0.0:0.917:0.0:0.083	.	73;73	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	D	73	ENSP00000361650:G73D;ENSP00000274990:G73D	ENSP00000274990:G73D	G	-	2	0	CRIP3	43383438	0.998000	0.40836	1.000000	0.80357	0.630000	0.37929	3.076000	0.50081	1.464000	0.47987	0.655000	0.94253	GGC	-	NULL		0.627	CRIP3-004	KNOWN	basic	protein_coding	CRIP3	protein_coding	OTTHUMT00000313968.1	C		-		43275460	-1	no_errors	ENST00000274990	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43275460	C	T	43275460	3	4	178	1	0	0	0	0	1	0	0	0	3878	739	26	2	416	2	CRIP3	6	43275460	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	11675895	43275460	127839607	19	12480											
GCM1	8521	genome.wustl.edu	37	chr6	52993032	52993032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggacacaggttcagaagcAtatcattgttgcagtgatcc	10	8	2	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr6:52993032A>G	ENST00000259803.7	-	6	1494	c.1283T>C	c.(1282-1284)aTg>aCg	p.M428T	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	428					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTCAGAAGCATATCATTGTT	0.433																																																	0								ENSG00000137270						182	184	183					6																	52993032		2203	4300	6503	GCM1	SO:0001583	missense	0			-	HGNC	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1283T>C	6.37:g.52993032A>G	ENSP00000259803:p.Met428Thr	Somatic	0	79	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	68	42.37	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP							pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.M428T	ENST00000259803.7	37	c.1283	CCDS4950.1	6	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.124119	0.00342	.	.	ENSG00000137270	ENST00000259803	T	0.73789	-0.78	5.82	0.569	0.17340	.	0.324027	0.31312	N	0.007874	T	0.30541	0.0768	N	0.20986	0.625	0.27007	N	0.964777	B	0.17852	0.024	B	0.10450	0.005	T	0.06607	-1.0817	10	0.25106	T	0.35	-21.5481	2.4929	0.04615	0.6084:0.1281:0.1399:0.1235	.	428	Q9NP62	GCM1_HUMAN	T	428	ENSP00000259803:M428T	ENSP00000259803:M428T	M	-	2	0	GCM1	53100991	0.194000	0.23325	0.981000	0.43875	0.009000	0.06853	0.624000	0.24462	1.046000	0.40249	0.533000	0.62120	ATG	-	NULL		0.433	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM1	protein_coding	OTTHUMT00000040953.1	A		-		52993032	-1	no_errors	ENST00000259803	ensembl	human	known	74_37	missense	SNP	0.761	G	G	52993032	A	G	52993032	3	3	178	1	0	0	0	0	1	0	0	0	6299	217	8	5	31	5	GCM1	6	52993032	Missense_Mutation	SNP	A	TCGA-LI-A67I-01A-31D-A307-09	9717572	52993032	118122035	20	12481											
AKD1	221264	genome.wustl.edu	37	chr6	109996917	109996917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaatatatctgcaaaaGgatactcttctgtcttctct	4	10	6	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr6:109996917G>A	ENST00000424296.2	-	2	108	c.32C>T	c.(31-33)cCt>cTt	p.P11L	AK9_ENST00000285397.5_Missense_Mutation_p.P11L|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.P11L	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	11					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)	p.P11H(2)									ATCTGCAAAAGGATACTCTTC	0.328																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000155085						63	66	65					6																	109996917		2203	4294	6497	AK9	SO:0001583	missense	0			-	HGNC	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.32C>T	6.37:g.109996917G>A	ENSP00000410186:p.Pro11Leu	Somatic	0	204	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	101	161	38.55	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP							pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P11L	ENST00000424296.2	37	c.32	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099706	0.76983	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.72051	-0.46;-0.62;-0.35;-0.43	5.15	5.15	0.70609	.	0.224630	0.46145	D	0.000301	T	0.64638	0.2616	M	0.61703	1.905	0.80722	D	1	P;P	0.50443	0.493;0.935	B;P	0.44990	0.234;0.466	T	0.66500	-0.5908	9	.	.	.	-9.2772	17.768	0.88484	0.0:0.0:1.0:0.0	.	11;11	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	L	11	ENSP00000410186:P11L;ENSP00000357944:P11L;ENSP00000285397:P11L;ENSP00000436325:P11L	.	P	-	2	0	AKD1	110103610	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	6.012000	0.70767	2.567000	0.86603	0.591000	0.81541	CCT	-	NULL		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	protein_coding		G	NM_001145128	-		109996917	-1	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	SNP	0.999	A	A	109996917	G	A	109996917	3	1	178	1	0	0	0	0	1	0	0	0	460	1000	35	2	5875	2	AKD1	6	109996917	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	57003885	109996917	61118150	21	12482											
IDO1	3620	genome.wustl.edu	37	chr8	39776355	39776355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttgccaagaaatattgctGttccttactgccaactctcc	5	13	2	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr8:39776355G>C	ENST00000518237.1	+	4	964	c.325G>C	c.(325-327)Gtt>Ctt	p.V109L	IDO1_ENST00000522495.1_Missense_Mutation_p.V109L|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	109					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.V109F(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AAATATTGCTGTTCCTTACTG	0.343																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000131203						103	102	102					8																	39776355		1871	4101	5972	IDO1	SO:0001583	missense	0			-	HGNC	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.325G>C	8.37:g.39776355G>C	ENSP00000430950:p.Val109Leu	Somatic	0	174	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	83	27.83	Q540B4	Missense_Mutation	SNP							pfam_Indolamine_dOase	p.V109L	ENST00000518237.1	37	c.325	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409673	0.42715	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.46063	0.88;0.88;0.88	5.85	-7.17	0.01511	.	1.068660	0.07252	N	0.866132	T	0.45617	0.1351	L	0.61218	1.895	0.29693	N	0.840762	P	0.42375	0.778	B	0.42245	0.381	T	0.53056	-0.8492	9	.	.	.	-7.6856	22.4628	0.99972	0.1181:0.0:0.8819:0.0	.	109	P14902	I23O1_HUMAN	L	109	ENSP00000428716:V109L;ENSP00000430505:V109L;ENSP00000430950:V109L	.	V	+	1	0	IDO1	39895512	0.000000	0.05858	0.241000	0.24154	0.905000	0.53344	-0.585000	0.05794	-1.634000	0.01537	-0.484000	0.04775	GTT	-	pfam_Indolamine_dOase		0.343	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	protein_coding	OTTHUMT00000376987.1	G	NM_002164	-		39776355	1	no_errors	ENST00000518237	ensembl	human	known	74_37	missense	SNP	0.461	C	C	39776355	G	C	39776355	3	2	178	1	0	0	0	0	1	0	0	0	7503	1377	48	4	339	4	IDO1	8	39776355	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09		39776355	106587667	22	12483											
SOX17	64321	genome.wustl.edu	37	chr8	55372529	55372529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgccagctccgcggtaTattactgcaactatcctgac	8	15	0	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr8:55372529T>C	ENST00000297316.4	+	2	1423	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	407	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTCCGCGGTATATTACTGCAA	0.597																																																	0								ENSG00000164736						43	47	46					8																	55372529		2203	4300	6503	SOX17	SO:0001583	missense	0			-	HGNC	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1219T>C	8.37:g.55372529T>C	ENSP00000297316:p.Tyr407His	Somatic	0	93	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	56	29.11		Missense_Mutation	SNP							pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Y407H	ENST00000297316.4	37	c.1219	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325994	0.81580	.	.	ENSG00000164736	ENST00000297316	D	0.90788	-2.73	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.79011	2.435	0.47584	D	0.999466	D	0.89917	1.0	D	0.81914	0.995	D	0.95495	0.8572	10	0.87932	D	0	.	14.5265	0.67892	0.0:0.0:0.0:1.0	.	407	Q9H6I2	SOX17_HUMAN	H	407	ENSP00000297316:Y407H	ENSP00000297316:Y407H	Y	+	1	0	SOX17	55535082	1.000000	0.71417	0.946000	0.38457	0.901000	0.52897	7.544000	0.82117	2.035000	0.60131	0.528000	0.53228	TAT	-	pfam_Sox_C_TAD		0.597	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	protein_coding	OTTHUMT00000378526.2	T		-		55372529	1	no_errors	ENST00000297316	ensembl	human	known	74_37	missense	SNP	0.998	C	C	55372529	T	C	55372529	3	2	178	1	0	0	0	0	1	0	0	0	14955	1406	49	5	1225	5	SOX17	8	55372529	Missense_Mutation	SNP	T	TCGA-LI-A67I-01A-31D-A307-09	15596174	55372529	90991493	23	12484											
FRMPD1	22844	genome.wustl.edu	37	chr9	37744414	37744414	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgtttctactgcagaaccCagtgccacaagcttgcagaa	9	11	1	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr9:37744414C>A	ENST00000539465.1	+	16	2978	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.P795P			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	795						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCAGAACCCAGTGCCACAA	0.507																																																	0								ENSG00000070601						105	115	112					9																	37744414		2203	4300	6503	FRMPD1	SO:0001819	synonymous_variant	0			-	HGNC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2385C>A	9.37:g.37744414C>A		Somatic	0	207	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	106	171	38.27	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP							pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.P795	ENST00000539465.1	37	c.2385	CCDS6612.1	9																																																																																			-	NULL		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	protein_coding	OTTHUMT00000402969.1	C	NM_014907	-		37744414	1	no_errors	ENST00000377765	ensembl	human	known	74_37	silent	SNP	0.144	A	A	37744414	C	A	37744414	2	1	178	1	0	0	0	0	0	0	0	1	6059	581	21	3		3	FRMPD1	9	37744414	Silent	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		37744414	103469017	24	12485											
SYK	6850	genome.wustl.edu	37	chr9	93624510	93624510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagccagagacaacaacGgctcctacgccctgtgcctg	10	16	0	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr9:93624510G>A	ENST00000375754.4	+	4	749	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	SYK_ENST00000375747.1_Missense_Mutation_p.G201S|SYK_ENST00000375746.1_Missense_Mutation_p.G201S|SYK_ENST00000375751.4_Missense_Mutation_p.G201S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	201	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGACAACAACGGCTCCTACGC	0.597			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								ENSG00000165025						93	71	78					9																	93624510		2203	4300	6503	SYK	SO:0001583	missense	0			-	HGNC	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.601G>A	9.37:g.93624510G>A	ENSP00000364907:p.Gly201Ser	Somatic	0	127	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	78	79	49.37		Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G201S	ENST00000375754.4	37	c.601	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986427	0.93044	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	4.89	4.89	0.63831	SH2 motif (5);	0.108919	0.64402	D	0.000007	D	0.96303	0.8794	M	0.86420	2.815	0.80722	D	1	P;P;D	0.62365	0.831;0.946;0.991	B;P;P	0.51193	0.264;0.521;0.662	D	0.96976	0.9712	10	0.72032	D	0.01	.	16.9994	0.86378	0.0:0.0:1.0:0.0	.	201;201;201	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	S	201	ENSP00000364907:G201S;ENSP00000364904:G201S;ENSP00000364899:G201S;ENSP00000364898:G201S	ENSP00000364898:G201S	G	+	1	0	SYK	92664331	1.000000	0.71417	0.953000	0.39169	0.915000	0.54546	5.282000	0.65615	2.555000	0.86185	0.643000	0.83706	GGC	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,prints_SH2		0.597	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	protein_coding	OTTHUMT00000053018.1	G		-		93624510	1	no_errors	ENST00000375746	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93624510	G	A	93624510	3	1	178	1	0	0	0	0	1	0	0	0	15445	1116	39	1	611	1	SYK	9	93624510	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	55880096	93624510	47588921	25	12486											
PTEN	5728	genome.wustl.edu	37	chr10	89685305	89685305	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcataaaaaccattacaagaTatacaatctgtaagtatgtt	5	6	1	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr10:89685305T>A	ENST00000371953.3	+	3	1557	c.200T>A	c.(199-201)aTa>aAa	p.I67K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	67	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		I -> R (in CWS1).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I67K(1)|p.I67T(1)|p.I67del(1)|p.V54fs*29(1)|p.I67R(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CATTACAAGATATACAATCTG	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	57	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(6)|Substitution - Missense(3)|Deletion - In frame(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(13)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|ovary(3)|urinary_tract(2)|breast(2)|stomach(1)|soft_tissue(1)	GRCh37	CM981666	PTEN	M		ENSG00000171862						40	42	41					10																	89685305		2184	4274	6458	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.200T>A	10.37:g.89685305T>A	ENSP00000361021:p.Ile67Lys	Somatic	0	166	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	29	78.20	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I67K	ENST00000371953.3	37	c.200	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630510	0.87660	.	.	ENSG00000171862	ENST00000371953	D	0.98777	-5.13	5.46	5.46	0.80206	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	H	0.94771	3.58	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.98725	1.0710	9	.	.	.	-11.9292	15.5246	0.75894	0.0:0.0:0.0:1.0	.	67	P60484	PTEN_HUMAN	K	67	ENSP00000361021:I67K	.	I	+	2	0	PTEN	89675285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.448000	0.80631	2.072000	0.62099	0.533000	0.62120	ATA	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.279	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	T	NM_000314	-		89685305	1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89685305	T	A	89685305	3	1	178	1	0	0	0	0	1	0	0	0	12743	1406	49	5	210	5	PTEN	10	89685305	Missense_Mutation	SNP	T	TCGA-LI-A67I-01A-31D-A307-09		89685305	45849442	26	12487											
DOCK1	1793	genome.wustl.edu	37	chr10	129231688	129231688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccccttccagaccaggctccGacgggtgagtcaagctcaca	10	16	2	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr10:129231688G>T	ENST00000280333.6	+	48	5102	c.4993G>T	c.(4993-4995)Gac>Tac	p.D1665Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1665					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)	p.D1665Y(1)		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)		ACCAGGCTCCGACGGGTGAGT	0.597																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000150760						55	59	58					10																	129231688		1986	4159	6145	DOCK1	SO:0001583	missense	0			-	HGNC	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.4993G>T	10.37:g.129231688G>T	ENSP00000280333:p.Asp1665Tyr	Somatic	0	142	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	16	82.61	A9Z1Z5	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.D1665Y	ENST00000280333.6	37	c.4993		10	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654812	0.67472	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75020	0.965;0.985;0.965	T	0.00148	-1.1989	10	0.62326	D	0.03	.	18.5284	0.90981	0.0:0.0:1.0:0.0	.	1665;1731;1665	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	Y	1665	ENSP00000280333:D1665Y	ENSP00000280333:D1665Y	D	+	1	0	DOCK1	129121678	1.000000	0.71417	0.870000	0.34147	0.505000	0.33919	8.850000	0.92190	2.605000	0.88082	0.655000	0.94253	GAC	-	NULL		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	protein_coding	OTTHUMT00000050979.2	G	NM_001380	-		129231688	1	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	SNP	0.999	T	T	129231688	G	T	129231688	3	4	178	1	0	0	0	0	1	0	0	0	4686	1058	37	3	5183	3	DOCK1	10	129231688	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	39546383	129231688	6303059	27	12488											
DCHS1	8642	genome.wustl.edu	37	chr11	6643466	6643466	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgccggccacaatggctgtCagcgcacctgccacacatgg	11	16	1	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr11:6643466C>G	ENST00000299441.3	-	21	9852	c.9441G>C	c.(9439-9441)ctG>ctC	p.L3147L	RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3147					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGCTGTCAGCGCACCTG	0.632																																																	0								ENSG00000166341						14	15	15					11																	6643466		2183	4265	6448	DCHS1	SO:0001819	synonymous_variant	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9441G>C	11.37:g.6643466C>G		Somatic	0	83	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	12	79.66	O15098	Silent	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L3147	ENST00000299441.3	37	c.9441	CCDS7771.1	11																																																																																			-	NULL		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	C	NM_003737	-		6643466	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	silent	SNP	0.998	G	G	6643466	C	G	6643466	2	3	178	1	0	0	0	0	0	0	0	1	4289	813	29	4		4	DCHS1	11	6643466	Silent	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		6643466	128363050	28	12489											
DCHS1	8642	genome.wustl.edu	37	chr11	6653374	6653374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaaagactcggcccacGctggtccctgggggctggtt	16	12	0	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr11:6653374G>A	ENST00000299441.3	-	6	3780	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1123	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCGGCCCACGCTGGTCCCTG	0.602																																																	0								ENSG00000166341						65	65	65					11																	6653374		2201	4295	6496	DCHS1	SO:0001819	synonymous_variant	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3369C>T	11.37:g.6653374G>A		Somatic	0	107	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	13	80.82	O15098	Silent	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1123	ENST00000299441.3	37	c.3369	CCDS7771.1	11																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	G	NM_003737	-		6653374	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	silent	SNP	0.895	A	A	6653374	G	A	6653374	2	1	178	1	0	0	0	0	0	0	0	1	4289	1078	38	1		1	DCHS1	11	6653374	Silent	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	9908	6653374	128353142	29	12490											
HTATIP2	10553	genome.wustl.edu	37	chr11	20385381	20385382	+	In_Frame_Ins	INS	-	-	GCGGCG													ccgggcctgcggcgctgagcINSgcggcggcggcggctgctct					rs566196056	byFrequency	TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr11:20385381_20385382insGCGGCG	ENST00000419348.2	+	1	93_94	c.24_25insGCGGCG	c.(25-27)gcg>GCGGCGgcg	p.9_9A>AAA	HTATIP2_ENST00000451739.2_5'UTR|HTATIP2_ENST00000443524.2_Intron|HTATIP2_ENST00000421577.2_Intron|HTATIP2_ENST00000530266.1_Intron|HTATIP2_ENST00000531058.1_5'Flank|HTATIP2_ENST00000532505.1_5'Flank|HTATIP2_ENST00000532081.1_5'Flank	NM_001098520.1	NP_001091990.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGGCGCTGAGCGCGGCGGCGGC	0.752														48	0.00958466	0.0333	0.0029	5008	,	,		11513	0.002		0	False		,,,				2504	0																0								ENSG00000109854																																			HTATIP2	SO:0001652	inframe_insertion	0				HGNC	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000419348.2:c.31_36dupGCGGCG	11.37:g.20385382_20385387dupGCGGCG	ENSP00000392985:p.AlaAla13dup	Somatic					0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1					In_Frame_Ins	INS							pfam_Semialdehyde_DH_NAD-bd	p.12in_frame_insAA	ENST00000419348.2	37	c.24_25	CCDS44553.1	11																																																																																			-	NULL		0.752	HTATIP2-001	KNOWN	basic|CCDS	protein_coding	HTATIP2	protein_coding	OTTHUMT00000387443.1	-	NM_001098521			20385382	1	no_errors	ENST00000419348	ensembl	human	known	74_37	in_frame_ins	INS	0.320:0.178	GCGGCG	GCGGCG	20385382	-	GCGGCG	20385381	7	5	178	1	0	1	1	0	0	0	0	0	7434	767	27	0	26	0	HTATIP2	11	20385381	In_Frame_Ins	INS	-	TCGA-LI-A67I-01A-31D-A307-09	13732007	20385381	114621135	30	12491											
CPSF7	79869	genome.wustl.edu	37	chr11	61188968	61188968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggagatggctcctggCgaacaggaggaggtggttca	18	7	1	1	rs200597857		TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr11:61188968C>T	ENST00000394888.4	-	3	339	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CPSF7_ENST00000340437.4_Missense_Mutation_p.R99H|CPSF7_ENST00000448745.1_Missense_Mutation_p.R56H|CPSF7_ENST00000439958.3_Missense_Mutation_p.R56H|CPSF7_ENST00000541963.1_Missense_Mutation_p.R56H	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	56					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TGGCTCCTGGCGAACAGGAGG	0.522																																																	0								ENSG00000149532	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4404		0,0,2202	216	184	195		167,167,296	5.7	1	11		195	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense,missense	CPSF7	NM_001136040.2,NM_001142565.1,NM_024811.3	29,29,29	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	56/472,56/463,99/515	61188968	3,12999	2202	4299	6501	CPSF7	SO:0001583	missense	0			-	HGNC		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.167G>A	11.37:g.61188968C>T	ENSP00000378352:p.Arg56His	Somatic	0	200	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	102	40.00	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R99H	ENST00000394888.4	37	c.296	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939512	0.73557	0.0	3.49E-4	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	T;T;T	0.44482	0.92;0.92;0.92	5.68	5.68	0.88126	Nucleotide-binding, alpha-beta plait (1);	0.377447	0.29152	N	0.012989	T	0.53514	0.1801	L	0.36672	1.1	0.46874	D	0.999231	D;D;D;D	0.76494	0.999;0.998;0.997;0.997	D;P;P;P	0.63033	0.91;0.865;0.818;0.818	T	0.48875	-0.8996	10	0.45353	T	0.12	.	17.5851	0.87979	0.0:1.0:0.0:0.0	.	56;56;99;56	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	H	99;56;56;56;56;56;56;56;56;56;56;56	ENSP00000391359:R56H;ENSP00000392400:R56H;ENSP00000414295:R56H	ENSP00000345412:R99H	R	-	2	0	CPSF7	60945544	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.047000	0.49854	2.679000	0.91253	0.650000	0.86243	CGC	-	NULL		0.522	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	protein_coding	OTTHUMT00000347835.2	C	NM_024811	rs200597857		61188968	-1	no_errors	ENST00000340437	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61188968	C	T	61188968	3	4	178	1	0	0	0	0	1	0	0	0	3832	768	27	1	1276	1	CPSF7	11	61188968	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	40803587	61188968	73817548	31	12492											
AHNAK	79026	genome.wustl.edu	37	chr11	62294150	62294150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaatcaaagtcaggcatgGagatcttgggggctttgatg	14	6	3	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr11:62294150G>A	ENST00000378024.4	-	5	8013	c.7739C>T	c.(7738-7740)tCc>tTc	p.S2580F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2580					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGGCATGGAGATCTTGGG	0.483																																																	0								ENSG00000124942						205	210	208					11																	62294150		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7739C>T	11.37:g.62294150G>A	ENSP00000367263:p.Ser2580Phe	Somatic	0	345	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	249	10.11	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S2580F	ENST00000378024.4	37	c.7739	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	g	16.42	3.117379	0.56505	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02301	4.35	4.66	4.66	0.58398	.	.	.	.	.	T	0.21509	0.0518	H	0.96889	3.9	0.35522	D	0.801516	D	0.71674	0.998	D	0.80764	0.994	T	0.53613	-0.8414	9	0.72032	D	0.01	-10.1704	15.3664	0.74526	0.0:0.0:1.0:0.0	.	2580	Q09666	AHNK_HUMAN	F	669;2580	ENSP00000367263:S2580F	ENSP00000244934:S669F	S	-	2	0	AHNAK	62050726	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.664000	0.46783	2.142000	0.66516	0.479000	0.44913	TCC	-	NULL		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	G	NM_024060	-		62294150	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62294150	G	A	62294150	3	1	178	1	0	0	0	0	1	0	0	0	414	1174	41	2	10053	2	AHNAK	11	62294150	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	1105182	62294150	72712366	32	12493											
C11orf2	738	genome.wustl.edu	37	chr11	64877351	64877351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccggaatgtgcgggccGtcatgaagcgggtggtggag	19	9	1	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr11:64877351G>A	ENST00000279281.3	+	7	1926	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	612					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TGTGCGGGCCGTCATGAAGCG	0.652																																																	0								ENSG00000149823						30	33	32					11																	64877351		2199	4297	6496	VPS51	SO:0001583	missense	0			-	HGNC	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1834G>A	11.37:g.64877351G>A	ENSP00000279281:p.Val612Ile	Somatic	0	162	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	35	57.83	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP							pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.V612I	ENST00000279281.3	37	c.1834	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.318506	0.95682	.	.	ENSG00000149823	ENST00000279281	.	.	.	4.9	4.9	0.64082	.	0.061993	0.64402	D	0.000004	T	0.79616	0.4476	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81059	-0.1104	9	0.51188	T	0.08	-4.6496	15.6121	0.76733	0.0:0.0:1.0:0.0	.	612	Q9UID3	FFR_HUMAN	I	612	.	ENSP00000279281:V612I	V	+	1	0	C11orf2	64633927	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	9.118000	0.94355	2.544000	0.85801	0.484000	0.47621	GTC	-	NULL		0.652	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	protein_coding	OTTHUMT00000385217.1	G	NM_013265	-		64877351	1	no_errors	ENST00000279281	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64877351	G	A	64877351	3	1	178	1	0	0	0	0	1	0	0	0	1635	1145	40	1	1860	1	C11orf2	11	64877351	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	2583201	64877351	70129165	33	12494											
RB1	5925	genome.wustl.edu	37	chr13	49039415	49039415	+	Frame_Shift_Del	DEL	T	T	-													agttcacccttacggattccTggagggaacatctatatttc							TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr13:49039415delT	ENST00000267163.4	+	23	2538	c.2400delT	c.(2398-2400)cctfs	p.P800fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	800	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.L797fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TACGGATTCCTGGAGGGAACA	0.418		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	27	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|liver(1)						ENSG00000139687						115	116	115					13																	49039415		2203	4300	6503	RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2400delT	13.37:g.49039415delT	ENSP00000267163:p.Pro800fs	Somatic	0	85	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	29	52.46	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.G801fs	ENST00000267163.4	37	c.2400	CCDS31973.1	13																																																																																			-	pfam_RB_C		0.418	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	T				49039415	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	49039415	T	-	49039415	7	5	178	1	0	1	0	1	0	0	0	0	13106	1567	55	0	2490	0	RB1	13	49039415	Frame_Shift_Del	DEL	T	TCGA-LI-A67I-01A-31D-A307-09		49039415	66130463	34	12495											
ARHGEF7	8874	genome.wustl.edu	37	chr13	111955453	111955453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctgggatgagaccaAtctataagggatgtcctcag	11	10	2	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr13:111955453A>G	ENST00000218789.5	+	21	2608	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.N645S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.N730S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.N645S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.N720S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GATGAGACCAATCTATAAGGG	0.517																																																	0								ENSG00000102606						83	82	82					13																	111955453		2203	4300	6503	ARHGEF7	SO:0001583	missense	0			-	HGNC	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.2111A>G	13.37:g.111955453A>G	ENSP00000218789:p.Asn704Ser	Somatic	0	79	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	12	81.25	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CH-domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.N730S	ENST00000218789.5	37	c.2189		13	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845265	0.32606	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.55760	0.5;0.51;0.51;0.51;0.53	5.06	5.06	0.68205	.	.	.	.	.	T	0.41166	0.1147	L	0.29908	0.895	0.80722	D	1	B	0.20459	0.045	B	0.23574	0.047	T	0.23404	-1.0189	9	0.15499	T	0.54	.	14.8349	0.70175	1.0:0.0:0.0:0.0	.	720	B7Z6G2	.	S	730;704;645;645;720	ENSP00000359657:N730S;ENSP00000218789:N704S;ENSP00000364888:N645S;ENSP00000397068:N645S;ENSP00000364889:N720S	ENSP00000218789:N704S	N	+	2	0	ARHGEF7	110753454	1.000000	0.71417	0.946000	0.38457	0.230000	0.25150	8.430000	0.90283	1.904000	0.55121	0.459000	0.35465	AAT	-	NULL		0.517	ARHGEF7-001	NOVEL	basic	protein_coding	ARHGEF7	protein_coding	OTTHUMT00000045805.3	A	NM_001113511	-		111955453	1	no_errors	ENST00000370623	ensembl	human	known	74_37	missense	SNP	1.000	G	G	111955453	A	G	111955453	3	3	178	1	0	0	0	0	1	0	0	0	911	101	4	5	2773	5	ARHGEF7	13	111955453	Missense_Mutation	SNP	A	TCGA-LI-A67I-01A-31D-A307-09	62916038	111955453	3214425	35	12496											
RTL1	388015	genome.wustl.edu	37	chr14	101348435	101348435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcaggctctcttgccGgtttggtcgtcgatttggat	14	10	1	0	rs531913473	byFrequency	TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr14:101348435G>A	ENST00000534062.1	-	1	2749	c.2691C>T	c.(2689-2691)acC>acT	p.T897T	MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	897					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCTCTTGCCGGTTTGGTCGT	0.582																																																	0								ENSG00000254656						32	30	31					14																	101348435		692	1591	2283	RTL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2691C>T	14.37:g.101348435G>A		Somatic	1	133	0.75		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	62	31.11	E9PKS8	Silent	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.T897	ENST00000534062.1	37	c.2691	CCDS53910.1	14																																																																																			-	NULL		0.582	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	G	NM_001134888	-		101348435	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	silent	SNP	0.000	A	A	101348435	G	A	101348435	2	1	178	1	0	0	0	0	0	0	0	1	13732	1103	39	1		1	RTL1	14	101348435	Silent	SNP	G	TCGA-LI-A67I-01A-31D-A307-09		101348435	6001105	36	12497											
FBN1	2200	genome.wustl.edu	37	chr15	48703246	48703277	+	Frame_Shift_Del	DEL	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	-													acccagttcaccactgaggtAgtctttgtcatatttgtctt					rs371939796|rs199846998		TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr15:48703246_48703277delAGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	ENST00000316623.5	-	66	8981_9012	c.8526_8557delTAACCAACTAGAAGACAAATATGACAAAGACT	c.(8524-8559)cttaaccaactagaagacaaatatgacaaagactacfs	p.NQLEDKYDKDY2843fs	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2843					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)	p.E2846K(1)		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)		CCACTGAGGTAGTCTTTGTCATATTTGTCTTCTAGTTGGTTAAGTTCTTTCT	0.362																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CD000605|CD055684	FBN1	D		ENSG00000166147																																			FBN1	SO:0001589	frameshift_variant	0				HGNC	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.8526_8557delTAACCAACTAGAAGACAAATATGACAAAGACT	15.37:g.48703246_48703277delAGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	ENSP00000325527:p.Asn2843fs	Somatic					0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Del	DEL							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.N2843fs	ENST00000316623.5	37	c.8557_8526	CCDS32232.1	15																																																																																			-	pirsf_FBN		0.362	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA				48703277	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.980:0.975:0.898:0.828	-	-	48703277	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	-	48703246	7	5	178	1	0	1	0	1	0	0	0	0	5704	420	15	0	62	0	FBN1	15	48703246	Frame_Shift_Del	DEL	AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA	TCGA-LI-A67I-01A-31D-A307-09		48703246	53828146	37	12498											
MSLNL	401827	genome.wustl.edu	37	chr16	824427	824427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacctcctgcacctgcGcccacaggtgagggctgatg	11	16	0	2	rs182148221	byFrequency	TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr16:824427G>A	ENST00000442466.1	-	7	760	c.761C>T	c.(760-762)gCg>gTg	p.A254V	MSLNL_ENST00000293892.3_Missense_Mutation_p.A605V			Q96KJ4	MSLNL_HUMAN	mesothelin-like	254					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGCACCTGCGCCCACAGGTG	0.721																																																	0								ENSG00000162006						10	12	12					16																	824427		1878	4074	5952	MSLNL	SO:0001583	missense	0			-	HGNC			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.761C>T	16.37:g.824427G>A	ENSP00000415767:p.Ala254Val	Somatic	0	15	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	9	52.63		Missense_Mutation	SNP							pfam_Mesothelin	p.A605V	ENST00000442466.1	37	c.1814		16	.	.	.	.	.	.	.	.	.	.	G	6.418	0.445255	0.12164	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11495	2.77;2.77;2.77	4.35	-8.03	0.01114	.	1.416370	0.04549	N	0.389496	T	0.05364	0.0142	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.10450	0.005	T	0.38023	-0.9680	9	0.48119	T	0.1	-0.0712	1.2425	0.01966	0.1907:0.1203:0.3279:0.3611	.	254	Q96KJ4	MSLNL_HUMAN	V	304;254;605	ENSP00000441381:A304V;ENSP00000415767:A254V;ENSP00000293892:A605V	ENSP00000293892:A605V	A	-	2	0	MSLNL	764428	0.000000	0.05858	0.046000	0.18839	0.184000	0.23303	-1.369000	0.02578	-0.960000	0.03613	-0.390000	0.06520	GCG	-	pfam_Mesothelin		0.721	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	protein_coding		G	NM_001025190	-		824427	-1	no_errors	ENST00000293892	ensembl	human	known	74_37	missense	SNP	0.020	A	A	824427	G	A	824427	3	1	178	1	0	0	0	0	1	0	0	0	9884	1087	38	1	1383	1	MSLNL	16	824427	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09		824427	89530326	38	12499											
TP53	7157	genome.wustl.edu	37	chr17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-													ggcaccaccacactatgtcgAaaagtgtttctgtcatccaa							TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr17:7578213delA	ENST00000269305.4	-	6	825	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs	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	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(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)	CACTATGTCGAAAAGTGTTTC	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	36	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(2)	large_intestine(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|stomach(1)|soft_tissue(1)|liver(1)|lung(1)|breast(1)	GRCh37	CD011205	TP53	D		ENSG00000141510						134	120	125					17																	7578213		2203	4300	6503	TP53	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;		HGNC	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.636delT	17.37:g.7578213delA	ENSP00000269305:p.Phe212fs	Somatic	0	121	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	94	31	75.20	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213fs	ENST00000269305.4	37	c.636	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546			7578213	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	7578213	A	-	7578213	7	5	178	1	0	1	0	1	0	0	0	0	16388	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	A	TCGA-LI-A67I-01A-31D-A307-09		7578213	73616997	39	12500											
PSMC3IP	29893	genome.wustl.edu	37	chr17	40725008	40725008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtctgggagtgtgacgTtgtaatcttcatccgtctct	13	8	4	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr17:40725008T>G	ENST00000393795.3	-	8	740	c.632A>C	c.(631-633)aAc>aCc	p.N211T	MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.N86T|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.N199T|MLX_ENST00000346833.4_3'UTR|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.N148T|MLX_ENST00000246912.4_3'UTR	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	211					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAGTGTGACGTTGTAATCTTC	0.522																																																	0								ENSG00000131470						137	126	130					17																	40725008		2203	4300	6503	PSMC3IP	SO:0001583	missense	0			-	HGNC	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"Proteasome (prosome, macropain) subunits"	17928	protein-coding gene	gene with protein product	"TBP-1 interacting protein"	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.632A>C	17.37:g.40725008T>G	ENSP00000377384:p.Asn211Thr	Somatic	0	79	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	50	35.90	C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP							pfam_TBPIP,pfam_BlaI_family	p.N211T	ENST00000393795.3	37	c.632	CCDS45688.1	17	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789391	0.49997	.	.	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.45668	0.89;0.91	5.9	4.82	0.62117	.	0.342215	0.36815	N	0.002385	T	0.36441	0.0967	L	0.55481	1.735	0.09310	N	1	B;B	0.27853	0.191;0.072	B;B	0.29267	0.1;0.046	T	0.23976	-1.0173	10	0.36615	T	0.2	-11.1207	8.4787	0.33030	0.0:0.199:0.0:0.801	.	199;211	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	T	211;199	ENSP00000377384:N211T;ENSP00000253789:N199T	ENSP00000253789:N199T	N	-	2	0	PSMC3IP	37978534	0.990000	0.36364	0.007000	0.13788	0.372000	0.29890	2.828000	0.48120	2.260000	0.74910	0.528000	0.53228	AAC	-	NULL		0.522	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC3IP	protein_coding	OTTHUMT00000450427.1	T	NM_013290	-		40725008	-1	no_errors	ENST00000393795	ensembl	human	known	74_37	missense	SNP	0.040	G	G	40725008	T	G	40725008	3	3	178	1	0	0	0	0	1	0	0	0	12693	1725	60	5	25	5	PSMC3IP	17	40725008	Missense_Mutation	SNP	T	TCGA-LI-A67I-01A-31D-A307-09	33146795	40725008	40470202	40	12501											
PLCD3	113026	genome.wustl.edu	37	chr17	43196223	43196223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaatgagctgctgggcgCgggccagtgtggcgccctcc	16	13	1	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr17:43196223C>T	ENST00000322765.5	-	5	985	c.872G>A	c.(871-873)cGc>cAc	p.R291H	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	291					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CTGCTGGGCGCGGGCCAGTGT	0.652																																																	0								ENSG00000161714						17	21	20					17																	43196223		1970	4118	6088	PLCD3	SO:0001583	missense	0			-	HGNC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.872G>A	17.37:g.43196223C>T	ENSP00000313731:p.Arg291His	Somatic	0	104	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	83	22.22	Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R291H	ENST00000322765.5	37	c.872		17	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820624	0.16678	.	.	ENSG00000161714	ENST00000322765	T	0.17370	2.28	3.77	-3.8	0.04307	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.377362	0.26696	N	0.022970	T	0.06462	0.0166	.	.	.	0.09310	N	0.999992	B	0.11235	0.004	B	0.10450	0.005	T	0.36407	-0.9749	9	0.14252	T	0.57	.	6.5418	0.22385	0.1203:0.5167:0.0:0.363	.	291	Q8N3E9	PLCD3_HUMAN	H	291	ENSP00000313731:R291H	ENSP00000313731:R291H	R	-	2	0	PLCD3	40551749	0.000000	0.05858	0.532000	0.27989	0.769000	0.43574	-0.235000	0.09016	-0.634000	0.05538	0.462000	0.41574	CGC	-	pfam_PLipase_C_EF-hand-like		0.652	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	protein_coding		C	NM_133373	-		43196223	-1	no_errors	ENST00000322765	ensembl	human	known	74_37	missense	SNP	0.405	T	T	43196223	C	T	43196223	3	4	178	1	0	0	0	0	1	0	0	0	12034	768	27	1	1540	1	PLCD3	17	43196223	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	2471215	43196223	37998987	41	12502											
ABCC3	8714	genome.wustl.edu	37	chr17	48760996	48760996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtggtggaaggcagccGccctcccgaaggttggcccc	16	14	0	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr17:48760996G>A	ENST00000285238.8	+	27	3913	c.3833G>A	c.(3832-3834)cGc>cAc	p.R1278H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1278					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)	GAAGGCAGCCGCCCTCCCGAA	0.647																																																	0								ENSG00000108846						62	60	61					17																	48760996		2203	4300	6503	ABCC3	SO:0001583	missense	0			-	HGNC	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.3833G>A	17.37:g.48760996G>A	ENSP00000285238:p.Arg1278His	Somatic	1	170	0.58		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	97	66	59.51	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R1278H	ENST00000285238.8	37	c.3833	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	g	14.28	2.488337	0.44249	.	.	ENSG00000108846	ENST00000285238	D	0.86097	-2.07	5.94	3.94	0.45596	.	0.260668	0.35936	N	0.002881	D	0.86447	0.5935	L	0.45137	1.4	0.39971	D	0.974798	D	0.89917	1.0	D	0.63113	0.911	D	0.85837	0.1395	10	0.59425	D	0.04	-10.2223	8.0485	0.30564	0.1364:0.1318:0.7317:0.0	.	1278	O15438	MRP3_HUMAN	H	1278	ENSP00000285238:R1278H	ENSP00000285238:R1278H	R	+	2	0	ABCC3	46115995	0.997000	0.39634	0.077000	0.20336	0.029000	0.11900	3.166000	0.50785	0.837000	0.34925	-0.141000	0.14075	CGC	-	superfamily_P-loop_NTPase,tigrfam_Multidrug-R_assoc		0.647	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	G	NM_020038	-		48760996	1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	SNP	0.708	A	A	48760996	G	A	48760996	3	1	178	1	0	0	0	0	1	0	0	0	54	1087	38	1	4023	1	ABCC3	17	48760996	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	5564773	48760996	32434214	42	12503											
KIF19	124602	genome.wustl.edu	37	chr17	72346862	72346862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggaagcatgagaagTcccgccgggccctcaaatgg	14	12	1	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr17:72346862T>A	ENST00000389916.4	+	12	1543	c.1405T>A	c.(1405-1407)Tcc>Acc	p.S469T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	469					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCATGAGAAGTCCCGCCGGGC	0.612																																																	0								ENSG00000196169						51	51	51					17																	72346862		2203	4300	6503	KIF19	SO:0001583	missense	0			-	HGNC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1405T>A	17.37:g.72346862T>A	ENSP00000374566:p.Ser469Thr	Somatic	0	169	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	88	43.64	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S469T	ENST00000389916.4	37	c.1405	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	t	6.617	0.482314	0.12581	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.73897	-0.79;-0.54	5.75	2.06	0.26882	.	.	.	.	.	T	0.57007	0.2024	L	0.31420	0.93	0.21553	N	0.999644	B;B;B;B	0.15141	0.011;0.012;0.0;0.0	B;B;B;B	0.17098	0.017;0.007;0.002;0.002	T	0.37888	-0.9686	9	0.13470	T	0.59	.	6.1932	0.20536	0.2718:0.0:0.3687:0.3595	.	469;427;427;469	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	427;469	ENSP00000449134:S427T;ENSP00000374566:S469T	ENSP00000374566:S469T	S	+	1	0	KIF19	69858457	0.696000	0.27757	0.923000	0.36655	0.023000	0.10783	0.854000	0.27791	0.419000	0.25927	-0.462000	0.05337	TCC	-	NULL		0.612	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	T	NM_153209	-		72346862	1	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	SNP	0.594	A	A	72346862	T	A	72346862	3	1	178	1	0	0	0	0	1	0	0	0	8284	1667	58	5	1451	5	KIF19	17	72346862	Missense_Mutation	SNP	T	TCGA-LI-A67I-01A-31D-A307-09	23585866	72346862	8848348	43	12504											
ZNF519	162655	genome.wustl.edu	37	chr18	14105364	14105364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcattctctgatgctgaGtaacgtatgagcttctatta	8	7	2	3			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr18:14105364G>A	ENST00000590202.1	-	3	1327	c.1175C>T	c.(1174-1176)aCt>aTt	p.T392I	ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	392					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTGATGCTGAGTAACGTATGA	0.423																																																	0								ENSG00000175322						111	111	111					18																	14105364		2203	4300	6503	ZNF519	SO:0001583	missense	0			-	HGNC	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1175C>T	18.37:g.14105364G>A	ENSP00000464872:p.Thr392Ile	Somatic	0	104	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	62	50.00		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T392I	ENST00000590202.1	37	c.1175	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	7.399	0.632409	0.14322	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-0.519	0.11939	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.21324	0.655	0.09310	N	1	B	0.31790	0.34	B	0.28232	0.087	T	0.15464	-1.0436	8	0.40728	T	0.16	.	3.8367	0.08897	0.5839:0.0:0.4161:0.0	.	392	Q8TB69	ZN519_HUMAN	I	392	.	ENSP00000307908:T392I	T	-	2	0	ZNF519	14095364	0.000000	0.05858	0.175000	0.22980	0.502000	0.33828	-1.175000	0.03102	-0.192000	0.10432	0.089000	0.15464	ACT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	protein_coding	OTTHUMT00000459037.1	G	NM_145287	-		14105364	-1	no_errors	ENST00000590202	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14105364	G	A	14105364	3	1	178	1	0	0	0	0	1	0	0	0	17971	1029	36	2	451	2	ZNF519	18	14105364	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09		14105364	63971884	44	12505											
MUC16	94025	genome.wustl.edu	37	chr19	9076876	9076876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtccaggatgctcacttCcgcaggagatgaagtctgag	12	10	2	3			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr19:9076876C>T	ENST00000397910.4	-	3	10773	c.10570G>A	c.(10570-10572)Gaa>Aaa	p.E3524K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3525	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						ATGCTCACTTCCGCAGGAGAT	0.517																																																	0								ENSG00000181143						219	208	212					19																	9076876		2125	4220	6345	MUC16	SO:0001583	missense	0			-	HGNC	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.10570G>A	19.37:g.9076876C>T	ENSP00000381008:p.Glu3524Lys	Somatic	0	265	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	112	41.36	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E3524K	ENST00000397910.4	37	c.10570	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	6.386	0.439332	0.12104	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.76	-0.5	0.12012	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.42344	-0.9457	8	0.87932	D	0	.	4.1325	0.10156	0.0:0.6006:0.0:0.3994	.	3524	B5ME49	.	K	3524	ENSP00000381008:E3524K	ENSP00000381008:E3524K	E	-	1	0	MUC16	8937876	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.026000	0.12392	-0.070000	0.12908	0.313000	0.20887	GAA	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9076876	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9076876	C	T	9076876	3	4	178	1	0	0	0	0	1	0	0	0	9975	864	30	2	33281	2	MUC16	19	9076876	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09		9076876	50052107	45	12506											
CDKN2D	1032	genome.wustl.edu	37	chr19	10677946	10677946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacgttgacatcagcccCgtgctccactaggaccttca	9	15	2	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr19:10677946C>A	ENST00000393599.2	-	2	613	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	KRI1_ENST00000361821.5_5'Flank|KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000312962.6_5'Flank|CDKN2D_ENST00000335766.2_Missense_Mutation_p.G97W	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	97					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ACATCAGCCCCGTGCTCCACT	0.597																																																	0								ENSG00000129355						139	124	129					19																	10677946		2203	4300	6503	CDKN2D	SO:0001583	missense	0			-	HGNC		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"Ankyrin repeat domain containing"	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.289G>T	19.37:g.10677946C>A	ENSP00000377224:p.Gly97Trp	Somatic	0	67	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	47	27.69	Q13102|Q6FGE9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G97W	ENST00000393599.2	37	c.289	CCDS12244.1	19	.	.	.	.	.	.	.	.	.	.	c	17.85	3.489391	0.64074	.	.	ENSG00000129355	ENST00000335766;ENST00000393599	T;T	0.73469	-0.75;-0.75	4.96	3.93	0.45458	Ankyrin repeat-containing domain (3);	0.059626	0.64402	D	0.000003	D	0.89818	0.6825	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91859	0.5498	10	0.87932	D	0	-13.7951	12.0037	0.53246	0.0:0.9138:0.0:0.0862	.	97	P55273	CDN2D_HUMAN	W	97	ENSP00000337056:G97W;ENSP00000377224:G97W	ENSP00000337056:G97W	G	-	1	0	CDKN2D	10538946	0.996000	0.38824	0.130000	0.21974	0.783000	0.44284	4.183000	0.58317	1.082000	0.41137	0.462000	0.41574	GGG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.597	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2D	protein_coding	OTTHUMT00000452030.1	C	NM_079421	-		10677946	-1	no_errors	ENST00000335766	ensembl	human	known	74_37	missense	SNP	0.998	A	A	10677946	C	A	10677946	3	1	178	1	0	0	0	0	1	0	0	0	3168	652	23	3	215	3	CDKN2D	19	10677946	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	1601070	10677946	48451037	46	12507											
CCDC151	115948	genome.wustl.edu	37	chr19	11537380	11537380	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagccggttctccaagttGaggctctcgtcctggggcgt	13	13	2	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr19:11537380G>A	ENST00000356392.4	-	6	813	c.726C>T	c.(724-726)ctC>ctT	p.L242L	CCDC151_ENST00000586836.1_Silent_p.L51L|CCDC151_ENST00000545100.1_Silent_p.L188L|CCDC151_ENST00000591179.1_Silent_p.L182L	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	242										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCCAAGTTGAGGCTCTCGT	0.617																																																	0								ENSG00000198003						45	49	47					19																	11537380		2065	4213	6278	CCDC151	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.726C>T	19.37:g.11537380G>A		Somatic	0	172	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	73	38.66	B4DXT0|Q96CG5	Silent	SNP							NULL	p.L242	ENST00000356392.4	37	c.726	CCDS42501.1	19																																																																																			-	NULL		0.617	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	protein_coding	OTTHUMT00000458800.1	G	NM_145045	-		11537380	-1	no_errors	ENST00000356392	ensembl	human	known	74_37	silent	SNP	0.012	A	A	11537380	G	A	11537380	2	1	178	1	0	0	0	0	0	0	0	1	2788	1277	45	2		2	CCDC151	19	11537380	Silent	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	859434	11537380	47591603	47	12508											
ZNF547	284306	genome.wustl.edu	37	chr19	57889153	57889153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagaggccttatggttGcagtgaatgtgggaagttct	15	4	1	2			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr19:57889153G>T	ENST00000282282.3	+	4	959	c.809G>T	c.(808-810)tGc>tTc	p.C270F	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		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)		CCTTATGGTTGCAGTGAATGT	0.418																																																	0								ENSG00000152433						131	119	123					19																	57889153		2203	4300	6503	ZNF547	SO:0001583	missense	0			-	HGNC	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.809G>T	19.37:g.57889153G>T	ENSP00000282282:p.Cys270Phe	Somatic	0	112	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	65	19.75	A8K5Z9|Q96NC4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C270F	ENST00000282282.3	37	c.809	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389479	0.61956	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	D	0.85088	-1.94	1.87	0.773	0.18516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93792	0.8015	H	0.96365	3.81	0.21256	N	0.999747	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.84690	0.0722	9	0.87932	D	0	.	9.46	0.38778	0.0:0.2215:0.7784:0.0	.	270;270;270	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	F	270	ENSP00000282282:C270F	ENSP00000282282:C270F	C	+	2	0	ZNF547	62580965	1.000000	0.71417	0.003000	0.11579	0.868000	0.49771	4.543000	0.60684	0.342000	0.23796	0.491000	0.48974	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	protein_coding	OTTHUMT00000465787.1	G	NM_173631	-		57889153	1	no_errors	ENST00000282282	ensembl	human	known	74_37	missense	SNP	0.321	T	T	57889153	G	T	57889153	3	4	178	1	0	0	0	0	1	0	0	0	17986	1319	46	3	819	3	ZNF547	19	57889153	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	46351773	57889153	1239830	48	12509											
XKR7	343702	genome.wustl.edu	37	chr20	30584527	30584527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcttcatcgtggcccactGgtgcgtcatgaccttctggg	11	13	4	1			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chr20:30584527G>T	ENST00000562532.2	+	3	1181	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	336						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGGCCCACTGGTGCGTCATG	0.572																																																	0								ENSG00000260903						89	77	81					20																	30584527		2203	4300	6503	XKR7	SO:0001583	missense	0			-	HGNC	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1007G>T	20.37:g.30584527G>T	ENSP00000477059:p.Trp336Leu	Somatic	0	73	0		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	12	78.57	Q9NUG5	Missense_Mutation	SNP							pfam_Transport_prot_XK	p.W336L	ENST00000562532.2	37	c.1007	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	g	22.1	4.250348	0.80024	.	.	ENSG00000101321	ENST00000217299	T	0.67345	-0.26	4.89	4.89	0.63831	.	0.060671	0.64402	D	0.000001	D	0.84929	0.5581	M	0.91459	3.21	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.87905	0.2693	10	0.54805	T	0.06	.	17.408	0.87479	0.0:0.0:1.0:0.0	.	336	Q5GH72	XKR7_HUMAN	L	336	ENSP00000217299:W336L	ENSP00000217299:W336L	W	+	2	0	XKR7	30048188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.866000	0.99616	2.427000	0.82271	0.556000	0.70494	TGG	-	pfam_Transport_prot_XK		0.572	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	protein_coding	OTTHUMT00000078597.3	G	NM_001011718	-		30584527	1	no_errors	ENST00000562532	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30584527	G	T	30584527	3	4	178	1	0	0	0	0	1	0	0	0	17443	1357	47	3	1017	3	XKR7	20	30584527	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09		30584527	32440993	49	12510											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765400	27765408	+	In_Frame_Del	DEL	GAGGAGGAG	GAGGAGGAG	-													agggaggggaggaggaggaaGaggaggaggaggaggaggag					rs371896121		TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	GAGGAGGAG	GAGGAGGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chrX:27765400_27765408delGAGGAGGAG	ENST00000451261.2	+	5	787_795	c.388_396delGAGGAGGAG	c.(388-396)gaggaggagdel	p.EEE145del		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	145	Glu-rich.			Missing (in Ref. 1; AAI57860). {ECO:0000305}.						central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ggaggaggaagaggaggaggaggaggagg	0.56														2184	0.578543	0.5855	0.3213	3775	,	,		4069	0.4018		0.4026	False		,,,				2504	0.3855																0								ENSG00000189186																																			DCAF8L2	SO:0001651	inframe_deletion	0				HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.388_396delGAGGAGGAG	X.37:g.27765409_27765417delGAGGAGGAG	ENSP00000462745:p.Glu145_Glu147del	Somatic					0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RXH9|J3KT06	In_Frame_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.EEE133in_frame_del	ENST00000451261.2	37	c.388_396	CCDS59162.1	X																																																																																			-	NULL		0.56	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	GAGGAGGAG	XM_293354			27765408	1	no_errors	ENST00000451261	ensembl	human	known	74_37	in_frame_del	DEL	0.007:0.003:0.002:0.002:0.001:0.000:0.000:0.000:0.000	-	-	27765408	GAGGAGGAG	-	27765400	7	5	178	1	0	1	0	1	0	0	0	0	4280	943	33	0	390	0	DCAF8L2	23	27765400	In_Frame_Del	DEL	GAGGAGGAG	TCGA-LI-A67I-01A-31D-A307-09		27765400	127505160	50	12511											
GSPT2	23708	genome.wustl.edu	37	chrX	51486909	51486909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccttcgtgcctaacGtacacgccgcggagttcgtg	11	15	0	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chrX:51486909G>A	ENST00000340438.4	+	1	429	c.187G>A	c.(187-189)Gta>Ata	p.V63I		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	63					cell cycle (GO:0007049)|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)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGTGCCTAACGTACACGCCGC	0.692																																																	0								ENSG00000189369						37	34	35					X																	51486909		2201	4300	6501	GSPT2	SO:0001583	missense	0			-	HGNC	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.187G>A	X.37:g.51486909G>A	ENSP00000341247:p.Val63Ile	Somatic	1	131	0.76		0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	56	38.46	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom	p.V63I	ENST00000340438.4	37	c.187	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949538	0.53186	.	.	ENSG00000189369	ENST00000340438	T	0.35236	1.32	3.63	2.76	0.32466	Ataxin-2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.27731	0.0682	L	0.47016	1.485	0.50632	D	0.999889	B	0.27882	0.192	B	0.24974	0.057	T	0.05903	-1.0857	10	0.31617	T	0.26	-0.2274	8.5224	0.33285	0.1214:0.0:0.8786:0.0	.	63	Q8IYD1	ERF3B_HUMAN	I	63	ENSP00000341247:V63I	ENSP00000341247:V63I	V	+	1	0	GSPT2	51503649	1.000000	0.71417	0.818000	0.32626	0.990000	0.78478	3.390000	0.52523	0.915000	0.36847	0.519000	0.50382	GTA	-	pfam_Ataxin-2_C		0.692	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	protein_coding	OTTHUMT00000056587.1	G		-		51486909	1	no_errors	ENST00000340438	ensembl	human	known	74_37	missense	SNP	0.998	A	A	51486909	G	A	51486909	3	1	178	1	0	0	0	0	1	0	0	0	6829	1145	40	1	189	1	GSPT2	23	51486909	Missense_Mutation	SNP	G	TCGA-LI-A67I-01A-31D-A307-09	23721509	51486909	103783651	51	12512											
FHL1	2273	genome.wustl.edu	37	chrX	135291453	135291453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctctaaagctaggaagcCcccagtgtgccacgggaaac	11	12	1	0			TCGA-LI-A67I-01A-31D-A307-09	TCGA-LI-A67I-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	002585e4-d695-47b6-af2c-3429073bc0b4	3f1693c5-913e-4965-a931-af97a11388c6	g.chrX:135291453C>A	ENST00000345434.3	+	6	821	c.740C>A	c.(739-741)cCc>cAc	p.P247H	FHL1_ENST00000535737.1_Intron|FHL1_ENST00000394155.2_Missense_Mutation_p.P247H|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370690.3_Intron			Q13642	FHL1_HUMAN	four and a half LIM domains 1	247					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCTAGGAAGCCCCCAGTGTGC	0.582											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000022267						57	52	54					X																	135291453		1568	3582	5150	FHL1	SO:0001583	missense	0			-	HGNC	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.740C>A	X.37:g.135291453C>A	ENSP00000071281:p.Pro247His	Somatic	0	62	0	1617	0.780186203605339				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	32	45.76	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P247H	ENST00000345434.3	37	c.740	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	c	10.43	1.348247	0.24426	.	.	ENSG00000022267	ENST00000394155;ENST00000345434	T;T	0.64991	-0.13;-0.13	3.85	3.85	0.44370	.	0.629993	0.16645	N	0.205463	T	0.37517	0.1006	N	0.08118	0	0.23632	N	0.997245	B	0.26445	0.149	B	0.17433	0.018	T	0.13176	-1.0519	10	0.23891	T	0.37	.	10.3036	0.43667	0.0:1.0:0.0:0.0	.	247	Q13642	FHL1_HUMAN	H	247	ENSP00000377710:P247H;ENSP00000071281:P247H	ENSP00000071281:P247H	P	+	2	0	FHL1	135119119	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	2.187000	0.69744	0.421000	0.28195	CCC	-	NULL		0.582	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	protein_coding	OTTHUMT00000058461.1	C	NM_001449	-		135291453	1	no_errors	ENST00000345434	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135291453	C	A	135291453	3	1	178	1	0	0	0	0	1	0	0	0	5880	623	22	3	875	3	FHL1	23	135291453	Missense_Mutation	SNP	C	TCGA-LI-A67I-01A-31D-A307-09	83804544	135291453	19979107	52	12513											
SLC2A5	6518	genome.wustl.edu	37	chr1	9098547	9098547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacgatgctgatgtatgGcatccaggacactgtgtcct	11	10	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:9098547G>A	ENST00000377424.4	-	10	1296	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	SLC2A5_ENST00000535586.1_Missense_Mutation_p.P258S|SLC2A5_ENST00000536305.1_Missense_Mutation_p.P314S	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	373					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.P373A(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGTATGGCATCCAGGAC	0.607																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000142583						113	102	106					1																	9098547		2203	4300	6503	SLC2A5	SO:0001583	missense	0			-	HGNC	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1117C>T	1.37:g.9098547G>A	ENSP00000366641:p.Pro373Ser	Somatic	0	33	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt	p.P373S	ENST00000377424.4	37	c.1117	CCDS99.1	1	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123702	0.20959	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.71341	-0.56;-0.56;-0.56	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053909	0.85682	D	0.000000	T	0.49372	0.1553	N	0.12961	0.28	0.54753	D	0.999985	B;B;B	0.20164	0.008;0.042;0.008	B;B;B	0.24541	0.054;0.054;0.054	T	0.45848	-0.9233	10	0.02654	T	1	.	12.0865	0.53700	0.0837:0.0:0.9163:0.0	.	329;314;373	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	S	373;356;314;258	ENSP00000366641:P373S;ENSP00000440688:P314S;ENSP00000442744:P258S	ENSP00000366641:P373S	P	-	1	0	SLC2A5	9021134	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.147000	0.50639	2.507000	0.84556	0.655000	0.94253	CCA	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.607	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A5	protein_coding	OTTHUMT00000004932.1	G	NM_003039	-		9098547	-1	no_errors	ENST00000377424	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9098547	G	A	9098547	3	1	179	1	0	0	0	0	1	0	0	0	14556	1203	42	2	400	2	SLC2A5	1	9098547	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		9098547	240152074	1	12514											
H6PD	9563	genome.wustl.edu	37	chr1	9324533	9324533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtgcacctgcagcagCggctctgcgccgaggaggac	15	14	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:9324533C>T	ENST00000377403.2	+	5	2283	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	H6PD_ENST00000602477.1_Missense_Mutation_p.R672W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	661	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCAGCGGCTCTGCGC	0.657																																																	0								ENSG00000049239						48	51	50					1																	9324533		2203	4296	6499	H6PD	SO:0001583	missense	0			-	HGNC	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1981C>T	1.37:g.9324533C>T	ENSP00000366620:p.Arg661Trp	Somatic	0	29	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP							pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.R661W	ENST00000377403.2	37	c.1981	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413668	0.62511	.	.	ENSG00000049239	ENST00000377403	D	0.98362	-4.89	5.72	1.16	0.20824	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.053786	0.64402	D	0.000001	D	0.97835	0.9289	M	0.66939	2.045	0.58432	D	0.999993	D	0.76494	0.999	D	0.63033	0.91	D	0.96214	0.9155	10	0.72032	D	0.01	-35.2963	5.8458	0.18665	0.3298:0.4973:0.1031:0.0699	.	661	O95479	G6PE_HUMAN	W	661	ENSP00000366620:R661W	ENSP00000366620:R661W	R	+	1	2	H6PD	9247120	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	1.675000	0.37555	0.330000	0.23485	0.561000	0.74099	CGG	-	tigrfam_6-phosphogluconolactonase_DevB		0.657	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	protein_coding	OTTHUMT00000004928.2	C	NM_004285	-		9324533	1	no_errors	ENST00000377403	ensembl	human	known	74_37	missense	SNP	1.000	T	T	9324533	C	T	9324533	3	4	179	1	0	0	0	0	1	0	0	0	6938	759	27	1	1995	1	H6PD	1	9324533	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	225986	9324533	239926088	2	12515											
UBXN11	91544	genome.wustl.edu	37	chr1	26627488	26627488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcttctgagccacacCcatcactcaacatgtccacc	3	17	5	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:26627488C>T	ENST00000374222.1	-	5	592	c.128G>A	c.(127-129)gGg>gAg	p.G43E	UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000357089.4_Intron|UBXN11_ENST00000314675.7_Missense_Mutation_p.G43E|UBXN11_ENST00000374221.3_Missense_Mutation_p.G43E			Q5T124	UBX11_HUMAN	UBX domain protein 11	43						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TGAGCCACACCCATCACTCAA	0.602																																																	0								ENSG00000158062						142	138	139					1																	26627488		2090	4227	6317	UBXN11	SO:0001583	missense	0			-	HGNC	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.128G>A	1.37:g.26627488C>T	ENSP00000363339:p.Gly43Glu	Somatic	0	41	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP							pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.G43E	ENST00000374222.1	37	c.128	CCDS41288.1	1	.	.	.	.	.	.	.	.	.	.	C	8.040	0.763697	0.15914	.	.	ENSG00000158062	ENST00000314675;ENST00000374221;ENST00000374222;ENST00000374215;ENST00000423664;ENST00000421827	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	3.8	0.894	0.19242	.	0.683705	0.12190	N	0.491317	T	0.31482	0.0798	L	0.59436	1.845	0.09310	N	0.999999	P;P	0.48162	0.573;0.906	B;B	0.44224	0.343;0.444	T	0.23190	-1.0195	10	0.02654	T	1	-0.525	3.8351	0.08891	0.0:0.5488:0.2198:0.2314	.	43;43	Q5T124-3;Q5T124	.;UBX11_HUMAN	E	43;43;43;5;5;43	ENSP00000324721:G43E;ENSP00000363338:G43E;ENSP00000363339:G43E;ENSP00000363332:G5E;ENSP00000394036:G5E	ENSP00000324721:G43E	G	-	2	0	UBXN11	26500075	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.660000	0.25009	0.212000	0.20703	-0.218000	0.12543	GGG	-	NULL		0.602	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	protein_coding	OTTHUMT00000009500.1	C	NM_145345	-		26627488	-1	no_errors	ENST00000374221	ensembl	human	known	74_37	missense	SNP	0.000	T	T	26627488	C	T	26627488	3	4	179	1	0	0	0	0	1	0	0	0	16920	623	22	2	1482	2	UBXN11	1	26627488	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	17302955	26627488	222623133	3	12516											
BEST4	266675	genome.wustl.edu	37	chr1	45250616	45250616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgatttgtctcaaagtcGtcatcatcctcaccaaatgg	7	11	4	1	rs369088764		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:45250616G>A	ENST00000372207.3	-	7	953	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	318						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					TCTCAAAGTCGTCATCATCCT	0.537																																																	0								ENSG00000142959	G		0,4406		0,0,2203	77	80	79		954	-6.1	0.8	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BEST4	NM_153274.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		318/474	45250616	1,13005	2203	4300	6503	BEST4	SO:0001819	synonymous_variant	0			-	HGNC	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.954C>T	1.37:g.45250616G>A		Somatic	0	18	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	Q5JR93	Silent	SNP							pfam_Bestrophin/UPF0187	p.D318	ENST00000372207.3	37	c.954	CCDS514.1	1																																																																																			-	pfam_Bestrophin/UPF0187		0.537	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST4	protein_coding	OTTHUMT00000023425.1	G	NM_153274	-		45250616	-1	no_errors	ENST00000372207	ensembl	human	known	74_37	silent	SNP	0.919	A	A	45250616	G	A	45250616	2	1	179	1	0	0	0	0	0	0	0	1	1407	1136	40	1		1	BEST4	1	45250616	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	18623128	45250616	204000005	4	12517											
AMY2B	280	genome.wustl.edu	37	chr1	104115688	104115688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaactttgctttctaggttCgtatttatgtggatgctgta	10	5	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:104115688C>T	ENST00000361355.4	+	5	935	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTCTAGGTTCGTATTTATGT	0.363																																																	0								ENSG00000240038						357	349	352					1																	104115688		2203	4300	6503	AMY2B	SO:0001583	missense	0			-	HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.319C>T	1.37:g.104115688C>T	ENSP00000354610:p.Arg107Cys	Somatic	0	110	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	97	27.61	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP							pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R107C	ENST00000361355.4	37	c.319	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702392	0.48307	.	.	ENSG00000240038	ENST00000361355	D	0.98493	-4.96	4.58	3.62	0.41486	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.465814	0.25590	N	0.029626	D	0.98880	0.9621	H	0.96015	3.755	0.23070	N	0.998348	D	0.89917	1.0	D	0.71656	0.974	D	0.95215	0.8329	10	0.87932	D	0	.	8.1505	0.31137	0.2716:0.6505:0.0:0.078	.	107	P19961	AMY2B_HUMAN	C	107	ENSP00000354610:R107C	ENSP00000354610:R107C	R	+	1	0	AMY2B	103917211	0.002000	0.14202	0.928000	0.36995	0.677000	0.39632	1.495000	0.35627	2.104000	0.64026	0.644000	0.83932	CGT	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	C	NM_020978	-		104115688	1	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	SNP	0.095	T	T	104115688	C	T	104115688	3	4	179	1	0	0	0	0	1	0	0	0	595	884	31	1	329	1	AMY2B	1	104115688	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	58865072	104115688	145134933	5	12518											
OVGP1	5016	genome.wustl.edu	37	chr1	111957515	111957583	+	In_Frame_Del	DEL	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	-													ccagggctcacagactgatgActcacaggggtcacagactg					rs61742558|rs568931117|rs12096782|rs112145355|rs113984808|rs201350653|rs375218077|rs79262073|rs201210901|rs75512011|rs1126656|rs368203827|rs150261549|rs3767609|rs3767608|rs201662631|rs376377993|rs145862799|rs45455292|rs74322126|rs374145757|rs140282461|rs549398942|rs369687480|rs386634633|rs144666939|rs551744565|rs139753199	byFrequency	TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:111957515_111957583delACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	ENST00000369732.3	-	11	1595_1663	c.1540_1608delTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACCCCTGTGGGTCATCAGTCTGTGACCCCTGTGAGT	c.(1540-1608)tatcagtctgtgacccctggggaaaagaccctgacccctgtgggtcatcagtctgtgacccctgtgagtdel	p.YQSVTPGEKTLTPVGHQSVTPVS514del		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	514			Y -> H (in dbSNP:rs1126656). {ECO:0000269|Ref.2}.		binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CAGACTGATGACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGAG	0.554																																																	4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)						ENSG00000085465																																			OVGP1	SO:0001651	inframe_deletion	0				HGNC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1540_1608delTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACCCCTGTGGGTCATCAGTCTGTGACCCCTGTGAGT	1.37:g.111957515_111957583delACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	ENSP00000358747:p.Tyr514_Ser536del	Somatic					0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A0AV19|B9EGE1|Q15841	In_Frame_Del	DEL							pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.YQSVTPGEKTLTPVGHQSVTPVS514in_frame_del	ENST00000369732.3	37	c.1608_1540	CCDS834.1	1																																																																																			-	NULL		0.554	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	protein_coding	OTTHUMT00000032461.1	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	NM_002557			111957583	-1	no_errors	ENST00000369732	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.001:0.000:0.001:0.001:0.004:0.005:0.008:0.009:0.045:0.066:0.065:0.061:0.012:0.006:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.007:0.006:0.001:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.004:0.007:0.004:0.004:0.004:0.010:0.010:0.015:0.009:0.010:0.006:0.006:0.000:0.000:0.000:0.000:0.001:0.000:0.000	-	-	111957583	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	-	111957515	7	5	179	1	0	1	0	1	0	0	0	0	11327	272	10	0	432	0	OVGP1	1	111957515	In_Frame_Del	DEL	ACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATA	TCGA-LI-A9QH-01A-11D-A37C-09	7841827	111957515	137293106	6	12519											
RAP1A	5906	genome.wustl.edu	37	chr1	112240076	112240076	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacagcaagttgaagtcgAttgccaacagtgtatgctcg	10	11	0	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:112240076A>C	ENST00000369709.3	+	4	319	c.140A>C	c.(139-141)gAt>gCt	p.D47A	RAP1A_ENST00000436150.2_Missense_Mutation_p.D47A|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Missense_Mutation_p.D47A|RAP1A_ENST00000545460.1_Missense_Mutation_p.D47A	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	47					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GTTGAAGTCGATTGCCAACAG	0.368																																																	0								ENSG00000116473						161	165	164					1																	112240076		2203	4300	6503	RAP1A	SO:0001583	missense	0			-	HGNC	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.140A>C	1.37:g.112240076A>C	ENSP00000358723:p.Asp47Ala	Somatic	0	26	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	P10113	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D47A	ENST00000369709.3	37	c.140	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817153	0.70912	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.049050	0.85682	D	0.000000	T	0.71298	0.3323	M	0.88181	2.935	0.80722	D	1	B	0.23377	0.084	B	0.32465	0.146	T	0.75972	-0.3129	10	0.87932	D	0	.	15.2735	0.73723	1.0:0.0:0.0:0.0	.	47	P62834	RAP1A_HUMAN	A	47	ENSP00000348786:D47A;ENSP00000396741:D47A;ENSP00000358723:D47A;ENSP00000394318:D47A;ENSP00000443009:D47A	ENSP00000348786:D47A	D	+	2	0	RAP1A	112041599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.143000	0.66587	0.528000	0.53228	GAT	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.368	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	protein_coding	OTTHUMT00000033071.1	A	NM_002884	-		112240076	1	no_errors	ENST00000356415	ensembl	human	known	74_37	missense	SNP	1.000	C	C	112240076	A	C	112240076	3	2	179	1	0	0	0	0	1	0	0	0	13043	333	12	5	150	5	RAP1A	1	112240076	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	282561	112240076	137010545	7	12520											
DENND4B	9909	genome.wustl.edu	37	chr1	153908534	153908534	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaccccaaagtaggtAccttattgtagtagccatag	7	13	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:153908534A>G	ENST00000361217.4	-	17	2987		c.e17+1			NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAAGTAGGTACCTTATTGTA	0.587																																																	0								ENSG00000198837						63	72	69					1																	153908534		2140	4248	6388	DENND4B	SO:0001630	splice_region_variant	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2568+1T>C	1.37:g.153908534A>G		Somatic	0	42	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	Q5T4K0	Splice_Site	SNP							-	e16+2	ENST00000361217.4	37	c.2568+2	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	a	21.1	4.094661	0.76870	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3047	0.66377	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4B	152175158	1.000000	0.71417	0.945000	0.38365	0.888000	0.51559	8.944000	0.92980	2.216000	0.71823	0.459000	0.35465	.	-	-		0.587	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	A	XM_375806	-	Intron	153908534	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	splice_site	SNP	0.998	G	G	153908534	A	G	153908534	5	3	179	1	0	0	0	0	0	0	1	0	4436	405	14	5	1968	5	DENND4B	1	153908534	Splice_Site	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	41668458	153908534	95342087	8	12521											
ASH1L	55870	genome.wustl.edu	37	chr1	155429652	155429652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacaatttgtgctctctgaTggccgctgggagggtttatc	12	9	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:155429652T>C	ENST00000368346.3	-	4	5661	c.5022A>G	c.(5020-5022)ccA>ccG	p.P1674P	ASH1L_ENST00000392403.3_Silent_p.P1674P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1674	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTCTCTGATGGCCGCTGGG	0.408																																																	0								ENSG00000116539						79	79	79					1																	155429652		2203	4300	6503	ASH1L	SO:0001819	synonymous_variant	0			-	HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5022A>G	1.37:g.155429652T>C		Somatic	0	19	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP							pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.P1674	ENST00000368346.3	37	c.5022		1																																																																																			-	NULL		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	T	NM_018489	-		155429652	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	silent	SNP	0.596	C	C	155429652	T	C	155429652	2	2	179	1	0	0	0	0	0	0	0	1	1041	1451	51	5		5	ASH1L	1	155429652	Silent	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	1521118	155429652	93820969	9	12522											
RALGPS2	55103	genome.wustl.edu	37	chr1	178875998	178875998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccaaagtaacaaacAacaggtaagcatttctccta	6	11	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:178875998A>G	ENST00000367635.3	+	19	2056	c.1718A>G	c.(1717-1719)cAa>cGa	p.Q573R	RALGPS2_ENST00000367634.2_Missense_Mutation_p.Q547R	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	573	Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGTAACAAACAACAGGTAAGC	0.343																																																	0								ENSG00000116191						88	84	86					1																	178875998		2203	4300	6503	RALGPS2	SO:0001583	missense	0			-	HGNC	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1718A>G	1.37:g.178875998A>G	ENSP00000356607:p.Gln573Arg	Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP							pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.Q573R	ENST00000367635.3	37	c.1718	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163951	0.57476	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.78816	-1.21;-1.21;-1.21	5.87	5.87	0.94306	Pleckstrin homology-type (1);	0.199408	0.45606	D	0.000346	T	0.71829	0.3386	L	0.44542	1.39	0.80722	D	1	B;B	0.31581	0.3;0.329	B;B	0.29942	0.109;0.109	T	0.70223	-0.4931	10	0.39692	T	0.17	.	15.9315	0.79663	1.0:0.0:0.0:0.0	.	547;573	B7Z7B1;Q86X27	.;RGPS2_HUMAN	R	573;547;538;222	ENSP00000356607:Q573R;ENSP00000356606:Q547R;ENSP00000313613:Q538R	ENSP00000313613:Q538R	Q	+	2	0	RALGPS2	177142621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.707000	0.91367	2.248000	0.74166	0.533000	0.62120	CAA	-	NULL		0.343	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	protein_coding	OTTHUMT00000084926.2	A	NM_152663	-		178875998	1	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178875998	A	G	178875998	3	3	179	1	0	0	0	0	1	0	0	0	13026	130	5	5	1788	5	RALGPS2	1	178875998	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	23446346	178875998	70374623	10	12523											
KIF21B	23046	genome.wustl.edu	37	chr1	200956187	200956187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccggtaataggggtctCggacagagaagcccactccg	13	12	1	1	rs371053876		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:200956187C>T	ENST00000422435.2	-	25	3867	c.3551G>A	c.(3550-3552)cGa>cAa	p.R1184Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1184Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1184Q|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1184Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1184					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATAGGGGTCTCGGACAGAGAA	0.602													C|||	1	0.000199681	0	0	5008	,	,		17308	0		0	False		,,,				2504	0.001																0								ENSG00000116852	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	94	96	95		3551	5.2	0.9	1		95	0,8600		0,0,4300	no	missense	KIF21B	NM_017596.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1184/1625	200956187	1,13005	2203	4300	6503	KIF21B	SO:0001583	missense	0			-	HGNC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3551G>A	1.37:g.200956187C>T	ENSP00000411831:p.Arg1184Gln	Somatic	0	32	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	5	64.29	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1184Q	ENST00000422435.2	37	c.3551	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478771	0.44044	2.27E-4	0.0	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71579	-0.24;-0.55;-0.58;-0.27	5.17	5.17	0.71159	.	0.083005	0.49305	D	0.000152	T	0.62048	0.2396	L	0.44542	1.39	0.44976	D	0.997999	P;P;P;P	0.51791	0.913;0.824;0.905;0.948	B;B;B;B	0.39660	0.227;0.084;0.111;0.306	T	0.61292	-0.7092	10	0.14656	T	0.56	.	18.2598	0.90031	0.0:1.0:0.0:0.0	.	1184;1184;1184;1184	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	1184	ENSP00000328494:R1184Q;ENSP00000353724:R1184Q;ENSP00000433808:R1184Q;ENSP00000411831:R1184Q	ENSP00000328494:R1184Q	R	-	2	0	KIF21B	199222810	1.000000	0.71417	0.929000	0.37066	0.522000	0.34438	4.558000	0.60789	2.420000	0.82092	0.655000	0.94253	CGA	-	NULL		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	protein_coding	OTTHUMT00000382635.1	C	XM_371332	-		200956187	-1	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	SNP	1.000	T	T	200956187	C	T	200956187	3	4	179	1	0	0	0	0	1	0	0	0	8291	884	31	1	1363	1	KIF21B	1	200956187	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	22080189	200956187	48294434	11	12524											
TFB2M	64216	genome.wustl.edu	37	chr1	246719999	246719999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctctacttgggaacAttccaactacttttaaaggg	6	11	2	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:246719999A>T	ENST00000366514.4	-	4	766	c.581T>A	c.(580-582)aTg>aAg	p.M194K	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	194					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ACTTGGGAACATTCCAACTAC	0.323																																																	0								ENSG00000162851						54	58	57					1																	246719999		2203	4298	6501	TFB2M	SO:0001583	missense	0			-	HGNC	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.581T>A	1.37:g.246719999A>T	ENSP00000355471:p.Met194Lys	Somatic	0	47	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q9H626	Missense_Mutation	SNP							pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur	p.M194K	ENST00000366514.4	37	c.581	CCDS1627.1	1	.	.	.	.	.	.	.	.	.	.	A	9.507	1.104671	0.20632	.	.	ENSG00000162851	ENST00000366514	T	0.27402	1.67	5.19	4.07	0.47477	.	0.624373	0.16807	N	0.198755	T	0.24353	0.0590	L	0.34521	1.04	0.80722	D	1	P	0.41313	0.745	B	0.39027	0.288	T	0.02269	-1.1185	10	0.56958	D	0.05	-1.7748	10.2677	0.43464	0.9205:0.0:0.0795:0.0	.	194	Q9H5Q4	TFB2M_HUMAN	K	194	ENSP00000355471:M194K	ENSP00000355471:M194K	M	-	2	0	TFB2M	244786622	1.000000	0.71417	0.376000	0.26042	0.010000	0.07245	3.990000	0.56965	0.906000	0.36621	-0.280000	0.10049	ATG	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur		0.323	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB2M	protein_coding	OTTHUMT00000096673.1	A	NM_022366	-		246719999	-1	no_errors	ENST00000366514	ensembl	human	known	74_37	missense	SNP	0.854	T	T	246719999	A	T	246719999	3	4	179	1	0	0	0	0	1	0	0	0	15801	217	8	5	629	5	TFB2M	1	246719999	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	45763812	246719999	2530622	12	12525											
OR2M5	127059	genome.wustl.edu	37	chr1	248308470	248308470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcatgggagaatcagacCttcaactctgacttcatcct	8	11	4	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr1:248308470C>T	ENST00000366476.1	+	1	21	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			AGAATCAGACCTTCAACTCTG	0.433																																																	0								ENSG00000162727						214	211	212					1																	248308470		2203	4300	6503	OR2M5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.21C>T	1.37:g.248308470C>T		Somatic	0	56	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	25	52.83		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T7	ENST00000366476.1	37	c.21	CCDS31105.1	1																																																																																			-	NULL		0.433	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	protein_coding	OTTHUMT00000097343.1	C	NM_001004690	-		248308470	1	no_errors	ENST00000366476	ensembl	human	known	74_37	silent	SNP	0.000	T	T	248308470	C	T	248308470	2	4	179	1	0	0	0	0	0	0	0	1	11015	668	24	2		2	OR2M5	1	248308470	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	1588471	248308470	942151	13	12526											
TUBA3D	113457	genome.wustl.edu	37	chr2	132240193	132240193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggtgcagcgggccgtGtgcatgctgagcaacaccac	14	13	0	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:132240193G>A	ENST00000321253.6	+	5	1232	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	375					'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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCGGGCCGTGTGCATGCTGA	0.617																																					Ovarian(137;2059 2432 35543 39401)												0								ENSG00000075886						46	46	46					2																	132240193		2203	4297	6500	TUBA3D	SO:0001819	synonymous_variant	0			-	HGNC	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1125G>A	2.37:g.132240193G>A		Somatic	0	43	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	43	36.76	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.V375	ENST00000321253.6	37	c.1125	CCDS33290.1	2																																																																																			-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_tubulin		0.617	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	protein_coding	OTTHUMT00000331800.2	G	NM_080386	-		132240193	1	no_errors	ENST00000321253	ensembl	human	known	74_37	silent	SNP	1.000	A	A	132240193	G	A	132240193	2	1	179	1	0	0	0	0	0	0	0	1	16754	1364	48	2		2	TUBA3D	2	132240193	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		132240193	110959180	14	12527											
TTN	7273	genome.wustl.edu	37	chr2	179426447	179426447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagattcactgtaggagcTctttccatagcggttttctg	10	8	3	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:179426447T>G	ENST00000591111.1	-	276	79713	c.79489A>C	c.(79489-79491)Agc>Cgc	p.S26497R	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28138R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19198R|TTN_ENST00000460472.2_Missense_Mutation_p.S19073R|TTN_ENST00000342992.6_Missense_Mutation_p.S25570R|TTN_ENST00000342175.6_Missense_Mutation_p.S19265R|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26497	Fibronectin type-III 92. {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)			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)			CTGTAGGAGCTCTTTCCATAG	0.448																																																	0								ENSG00000155657						89	91	90					2																	179426447		1901	4116	6017	TTN	SO:0001583	missense	0			-	HGNC	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.79489A>C	2.37:g.179426447T>G	ENSP00000465570:p.Ser26497Arg	Somatic	0	16	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S25570R	ENST00000591111.1	37	c.76708		2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522269	0.44866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.1	6.1	0.99115	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84543	0.5495	H	0.97186	3.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.89663	0.3878	9	0.87932	D	0	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	19073;19198;19265;26497	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	25570;19073;19265;19198;19071	ENSP00000343764:S25570R;ENSP00000434586:S19073R;ENSP00000340554:S19265R;ENSP00000352154:S19198R	ENSP00000340554:S19265R	S	-	1	0	TTN	179134693	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	2.340000	0.79590	0.528000	0.53228	AGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179426447	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	G	G	179426447	T	G	179426447	3	3	179	1	0	0	0	0	1	0	0	0	16742	1551	54	5	23715	5	TTN	2	179426447	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	47186254	179426447	63772926	15	12528											
ITGA4	3676	genome.wustl.edu	37	chr2	182339711	182339711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctaatggagaaccttgtgGaaagacttgtttggaagaga	12	6	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:182339711G>T	ENST00000397033.2	+	3	774	c.344G>T	c.(343-345)gGa>gTa	p.G115V	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.G115V	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	115					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAACCTTGTGGAAAGACTTGT	0.413																																																	0								ENSG00000115232						99	95	96					2																	182339711		1870	4106	5976	ITGA4	SO:0001583	missense	0			-	HGNC		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.344G>T	2.37:g.182339711G>T	ENSP00000380227:p.Gly115Val	Somatic	0	31	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	D3DPG4|Q7Z4L6	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G115V	ENST00000397033.2	37	c.344	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706244	0.89018	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.57107	0.42;0.42;0.42	5.28	5.28	0.74379	.	0.051361	0.85682	D	0.000000	T	0.73202	0.3557	M	0.82823	2.61	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.59825	0.831;0.864	T	0.77566	-0.2540	10	0.72032	D	0.01	.	19.2608	0.93967	0.0:0.0:1.0:0.0	.	115;115	E7EP60;P13612	.;ITA4_HUMAN	V	115	ENSP00000340149:G115V;ENSP00000380227:G115V;ENSP00000233573:G115V	ENSP00000233573:G115V	G	+	2	0	ITGA4	182047956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.610000	0.90902	2.623000	0.88846	0.655000	0.94253	GGA	-	NULL		0.413	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	protein_coding	OTTHUMT00000334427.1	G		-		182339711	1	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	182339711	G	T	182339711	3	4	179	1	0	0	0	0	1	0	0	0	7880	1174	41	3	354	3	ITGA4	2	182339711	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	2913264	182339711	60859662	16	12529											
WDR75	84128	genome.wustl.edu	37	chr2	190327331	190327368	+	Splice_Site	DEL	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	-													gaacatatctcagtctcgccTgcaggagatttattctgcac					rs370964637|rs568931467|rs369195954	byFrequency	TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:190327331_190327368delTGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	ENST00000314761.4	+	9	960_997	c.900_937delTGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	c.(898-939)cctgcaggagatttattctgcacttctcactctgataataag>ccag	p.AGDLFCTSHSDNK301fs		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	301						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CAGTCTCGCCTGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATAGTAAGTCTAA	0.382																																																	0								ENSG00000115368																																			WDR75	SO:0001630	splice_region_variant	0				HGNC	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.937+1TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA>-	2.37:g.190327331_190327368delTGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA		Somatic					0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A301fs	ENST00000314761.4	37	c.900_937	CCDS2298.1	2																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.382	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	protein_coding	OTTHUMT00000255913.1	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	NM_032168		Frame_Shift_Del	190327368	1	no_errors	ENST00000314761	ensembl	human	known	74_37	frame_shift_del	DEL	0.884:0.984:0.969:0.111:1.000:1.000:0.782:0.909:0.963:0.966:0.972:0.999:0.998:1.000:1.000:1.000:1.000:1.000:0.984:1.000:1.000:0.889:0.994:0.998:0.932:1.000:1.000:0.933:0.928:0.924:0.507:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	190327368	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	-	190327331	8	5	179	1	0	1	0	1	0	0	1	0	17332	1567	55	0	934	0	WDR75	2	190327331	Splice_Site	DEL	TGCAGGAGATTTATTCTGCACTTCTCACTCTGATAATA	TCGA-LI-A9QH-01A-11D-A37C-09	7987620	190327331	52872042	17	12530											
VIL1	7429	genome.wustl.edu	37	chr2	219292725	219292725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctggcatgaagcacGtggagaccaactcctatgac	11	11	1	3	rs374719806		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:219292725G>T	ENST00000248444.5	+	5	473	c.385G>T	c.(385-387)Gtg>Ttg	p.V129L	VIL1_ENST00000440053.1_Missense_Mutation_p.V129L|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	129	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGAAGCACGTGGAGACCAA	0.612																																																	0								ENSG00000127831						147	142	144					2																	219292725		2203	4300	6503	VIL1	SO:0001583	missense	0			-	HGNC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.385G>T	2.37:g.219292725G>T	ENSP00000248444:p.Val129Leu	Somatic	0	29	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.V129L	ENST00000248444.5	37	c.385	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038842	0.55003	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.18810	2.19;2.19;2.19	5.05	4.15	0.48705	.	0.000000	0.64402	D	0.000004	T	0.32852	0.0843	M	0.87328	2.875	0.52501	D	0.999955	P;P	0.40834	0.664;0.73	B;B	0.38500	0.242;0.275	T	0.43893	-0.9363	10	0.52906	T	0.07	-26.0694	15.4705	0.75437	0.0:0.1392:0.8608:0.0	.	129;129	Q96AC8;P09327	.;VILI_HUMAN	L	129;125;129	ENSP00000248444:V129L;ENSP00000412657:V125L;ENSP00000409270:V129L	ENSP00000248444:V129L	V	+	1	0	VIL1	219000969	1.000000	0.71417	0.639000	0.29394	0.215000	0.24574	4.750000	0.62162	1.337000	0.45525	0.462000	0.41574	GTG	-	NULL		0.612	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	protein_coding	OTTHUMT00000256778.3	G	NM_007127	-		219292725	1	no_errors	ENST00000248444	ensembl	human	known	74_37	missense	SNP	0.996	T	T	219292725	G	T	219292725	3	4	179	1	0	0	0	0	1	0	0	0	17171	1145	40	3	399	3	VIL1	2	219292725	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	28965394	219292725	23906648	18	12531											
COL4A3	1285	genome.wustl.edu	37	chr2	228159755	228159755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgatggaattcctggtcCagccggagaaaagggagaaa	14	7	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:228159755C>T	ENST00000396578.3	+	40	3656	c.3494C>T	c.(3493-3495)cCa>cTa	p.P1165L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1165	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATTCCTGGTCCAGCCGGAGAA	0.408																																																	0								ENSG00000169031						125	130	129					2																	228159755		1855	4099	5954	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3494C>T	2.37:g.228159755C>T	ENSP00000379823:p.Pro1165Leu	Somatic	0	31	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1165L	ENST00000396578.3	37	c.3494	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530262	0.27387	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93247	-3.19	5.79	4.91	0.64330	.	0.000000	0.64402	D	0.000013	D	0.90960	0.7158	N	0.13043	0.29	0.44927	D	0.997949	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.77557	0.982;0.982;0.982;0.99	D	0.86269	0.1660	10	0.16420	T	0.52	.	8.1384	0.31069	0.1551:0.7631:0.0:0.0817	.	1165;1165;1165;1165	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	1165	ENSP00000379823:P1165L	ENSP00000323334:P1165L	P	+	2	0	COL4A3	227867999	0.010000	0.17322	0.437000	0.26809	0.935000	0.57460	1.692000	0.37731	2.750000	0.94351	0.563000	0.77884	CCA	-	pfam_Collagen		0.408	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	C	NM_000091	-		228159755	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.379	T	T	228159755	C	T	228159755	3	4	179	1	0	0	0	0	1	0	0	0	3693	594	21	2	3652	2	COL4A3	2	228159755	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	8867030	228159755	15039618	19	12532											
FBXO36	130888	genome.wustl.edu	37	chr2	230861515	230861515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattagactatgtcatcaAtttgtgcaaaggtaaatttg	7	4	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:230861515A>G	ENST00000283946.3	+	3	272	c.254A>G	c.(253-255)aAt>aGt	p.N85S	FBXO36_ENST00000373652.3_Missense_Mutation_p.N54S|FBXO36_ENST00000409992.1_Intron	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	85										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATGTCATCAATTTGTGCAAA	0.353																																																	0								ENSG00000153832						171	165	167					2																	230861515		2203	4300	6503	FBXO36	SO:0001583	missense	0			-	HGNC	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.254A>G	2.37:g.230861515A>G	ENSP00000283946:p.Asn85Ser	Somatic	0	28	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.N85S	ENST00000283946.3	37	c.254	CCDS2472.1	2	.	.	.	.	.	.	.	.	.	.	A	5.483	0.274154	0.10403	.	.	ENSG00000153832	ENST00000373652;ENST00000283946	T;T	0.44881	0.91;0.92	5.37	5.37	0.77165	.	0.124564	0.50627	D	0.000105	T	0.52256	0.1723	L	0.38838	1.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.43669	-0.9377	10	0.22706	T	0.39	-3.8363	14.3573	0.66745	1.0:0.0:0.0:0.0	.	54;85	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	S	54;85	ENSP00000362756:N54S;ENSP00000283946:N85S	ENSP00000283946:N85S	N	+	2	0	FBXO36	230569759	1.000000	0.71417	0.996000	0.52242	0.066000	0.16364	2.993000	0.49425	2.038000	0.60285	0.459000	0.35465	AAT	-	NULL		0.353	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO36	protein_coding	OTTHUMT00000256919.2	A	NM_174899	-		230861515	1	no_errors	ENST00000283946	ensembl	human	known	74_37	missense	SNP	1.000	G	G	230861515	A	G	230861515	3	3	179	1	0	0	0	0	1	0	0	0	5747	101	4	5	264	5	FBXO36	2	230861515	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	2701760	230861515	12337858	20	12533											
UGT1A1	54578	genome.wustl.edu	37	chr2	234681041	234681041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcgccccgcagcccacGacctcacctggtaccagtac	8	20	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr2:234681041G>A	ENST00000305139.6	+	5	1574	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A1_ENST00000609637.1_Missense_Mutation_p.D477N|UGT1A1_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A1_ENST00000609767.1_Missense_Mutation_p.D481N|UGT1A8_ENST00000305208.5_Missense_Mutation_p.D480N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A1_ENST00000608381.1_Missense_Mutation_p.D481N|UGT1A1_ENST00000608383.1_Missense_Mutation_p.D480N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	479					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CGCAGCCCACGACCTCACCTG	0.597																																																	0								ENSG00000244474						155	128	137					2																	234681041		2203	4300	6503	UGT1A4	SO:0001583	missense	0			-	HGNC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1435G>A	2.37:g.234681041G>A	ENSP00000303174:p.Asp479Asn	Somatic	0	27	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	35.48	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D481N	ENST00000305139.6	37	c.1441	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701229	0.88924	.	.	ENSG00000242366;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208	T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.83	4.95	0.65309	.	0.103647	0.64402	D	0.000005	T	0.76040	0.3932	L	0.60067	1.865	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;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.988;0.98;0.999;1.0;0.997;0.991;0.999;0.999;0.938	T	0.75578	-0.3269	10	0.38643	T	0.18	.	16.9581	0.86265	0.0:0.1277:0.8723:0.0	.	480;481;481;481;479;477;477;477;477	P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q9HAW9	UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;UD18_HUMAN	N	477;477;477;477;212;479;481;481;481;480	ENSP00000362549:D477N;ENSP00000343838:D477N;ENSP00000346768:D477N;ENSP00000362525:D477N;ENSP00000362523:D212N;ENSP00000303174:D479N;ENSP00000362513:D481N;ENSP00000362508:D481N;ENSP00000418532:D481N;ENSP00000304845:D480N	ENSP00000343838:D477N	D	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234345780	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	3.779000	0.55379	1.451000	0.47736	0.655000	0.94253	GAC	-	pfam_UDP_glucos_trans		0.597	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A4	protein_coding	OTTHUMT00000130988.1	G	NM_205862	-		234681041	1	no_errors	ENST00000373409	ensembl	human	known	74_37	missense	SNP	0.991	A	A	234681041	G	A	234681041	3	1	179	1	0	0	0	0	1	0	0	0	16951	1058	37	1	1456	1	UGT1A1	2	234681041	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	3819526	234681041	8518332	21	12534											
ENTPD3	956	genome.wustl.edu	37	chr3	40433641	40433641	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccctccaggactgaaGgtaagtgtgaagggactggc	14	10	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:40433641G>T	ENST00000301825.3	+	3	286	c.168G>T	c.(166-168)aaG>aaT	p.K56N	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Splice_Site_p.K56N|ENTPD3_ENST00000445129.1_Splice_Site_p.K56N	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	56					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGGACTGAAGGTAAGTGTGA	0.443																																																	0								ENSG00000168032						107	98	101					3																	40433641		2203	4300	6503	ENTPD3	SO:0001630	splice_region_variant	0			-	HGNC	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.168+1G>T	3.37:g.40433641G>T		Somatic	0	33	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP							pfam_GDA1_CD39_NTPase	p.K56N	ENST00000301825.3	37	c.168	CCDS2691.1	3	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594232	0.86953	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000439533;ENST00000445129	T;T;T;T	0.13901	2.55;2.55;5.0;2.55	5.32	5.32	0.75619	.	0.142348	0.64402	D	0.000007	T	0.27866	0.0686	M	0.75447	2.3	0.58432	D	0.999998	P	0.47841	0.901	P	0.51777	0.679	T	0.00931	-1.1510	10	0.26408	T	0.33	-24.3082	14.8812	0.70534	0.0:0.0:1.0:0.0	.	56	O75355	ENTP3_HUMAN	N	56	ENSP00000301825:K56N;ENSP00000401565:K56N;ENSP00000406555:K56N;ENSP00000404671:K56N	ENSP00000301825:K56N	K	+	3	2	ENTPD3	40408645	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.448000	0.66612	2.667000	0.90743	0.655000	0.94253	AAG	-	pfam_GDA1_CD39_NTPase		0.443	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3	protein_coding	OTTHUMT00000254179.2	G	NM_001248	-	Missense_Mutation	40433641	1	no_errors	ENST00000301825	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40433641	G	T	40433641	5	4	179	1	0	0	0	0	0	0	1	0	5142	1014	35	3	174	3	ENTPD3	3	40433641	Splice_Site	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		40433641	157588789	22	12535											
KIF15	56992	genome.wustl.edu	37	chr3	44879780	44879780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaacagagggatatgctctGtgaggacctggctcatgcca	12	10	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:44879780G>A	ENST00000326047.4	+	27	3334	c.3185G>A	c.(3184-3186)tGt>tAt	p.C1062Y	KIF15_ENST00000425755.1_Missense_Mutation_p.C697Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1062					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GATATGCTCTGTGAGGACCTG	0.453																																																	0								ENSG00000163808						61	63	62					3																	44879780		2203	4300	6503	KIF15	SO:0001583	missense	0			-	HGNC	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3185G>A	3.37:g.44879780G>A	ENSP00000324020:p.Cys1062Tyr	Somatic	0	21	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C1062Y	ENST00000326047.4	37	c.3185	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804402	0.50315	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.41065	1.01;1.01	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000028	T	0.34077	0.0885	L	0.27053	0.805	0.42222	D	0.991856	P	0.45348	0.856	B	0.42798	0.398	T	0.21211	-1.0252	10	0.59425	D	0.04	.	13.3018	0.60330	0.0:0.1587:0.8413:0.0	.	1062	Q9NS87	KIF15_HUMAN	Y	1062;1061;697	ENSP00000324020:C1062Y;ENSP00000389982:C697Y	ENSP00000324020:C1062Y	C	+	2	0	KIF15	44854784	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.580000	0.36547	2.450000	0.82876	0.650000	0.86243	TGT	-	NULL		0.453	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	protein_coding	OTTHUMT00000343831.2	G		-		44879780	1	no_errors	ENST00000326047	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44879780	G	A	44879780	3	1	179	1	0	0	0	0	1	0	0	0	8279	1377	48	2	3291	2	KIF15	3	44879780	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	4446139	44879780	153142650	23	12536											
PFKFB4	5210	genome.wustl.edu	37	chr3	48563039	48563039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtacttgtcctggtcccGcagggcgaactccagtggat	13	13	0	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:48563039G>A	ENST00000232375.3	-	10	1163	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	PFKFB4_ENST00000541519.1_Missense_Mutation_p.R317W|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R344W|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R340W|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCCTGGTCCCGCAGGGCGAAC	0.567																																																	0								ENSG00000114268						72	61	65					3																	48563039		2203	4300	6503	PFKFB4	SO:0001583	missense	0			-	HGNC	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1051C>T	3.37:g.48563039G>A	ENSP00000232375:p.Arg351Trp	Somatic	0	11	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP							pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R351W	ENST00000232375.3	37	c.1051	CCDS2771.1	3	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699573	0.68501	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.1	2.21	0.28008	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.42487	1.325	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	T	0.72766	-0.4194	10	0.87932	D	0	-17.215	10.7359	0.46124	0.0:0.0:0.6571:0.3429	.	340;344;351	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	W	351;340;344;317	ENSP00000232375:R351W;ENSP00000438908:R340W;ENSP00000388394:R344W;ENSP00000437446:R317W	ENSP00000232375:R351W	R	-	1	2	PFKFB4	48538043	0.199000	0.23386	1.000000	0.80357	0.997000	0.91878	0.151000	0.16283	0.435000	0.26365	0.467000	0.42956	CGG	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.567	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	protein_coding	OTTHUMT00000257503.2	G	NM_004567	-		48563039	-1	no_errors	ENST00000232375	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48563039	G	A	48563039	3	1	179	1	0	0	0	0	1	0	0	0	11765	1086	38	1	378	1	PFKFB4	3	48563039	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	3683259	48563039	149459391	24	12537											
CELSR3	1951	genome.wustl.edu	37	chr3	48687949	48687949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggcactgtggccaggaCgccaaactttgtctggggcc	14	12	1	0	rs199670636	byFrequency	TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:48687949C>T	ENST00000164024.4	-	16	6716	c.6436G>A	c.(6436-6438)Gtc>Atc	p.V2146I	CELSR3_ENST00000544264.1_Missense_Mutation_p.V2146I	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2146					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)		GTGGCCAGGACGCCAAACTTT	0.607													C|||	3	0.000599042	0	0	5008	,	,		14070	0.002		0	False		,,,				2504	0.001																0								ENSG00000008300	C	ILE/VAL	1,4403		0,1,2201	57	52	54		6436	-8.1	0	3		54	0,8598		0,0,4299	no	missense	CELSR3	NM_001407.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	2146/3313	48687949	1,13001	2202	4299	6501	CELSR3	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.6436G>A	3.37:g.48687949C>T	ENSP00000164024:p.Val2146Ile	Somatic	0	51	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93	O75092	Missense_Mutation	SNP							pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2146I	ENST00000164024.4	37	c.6436	CCDS2775.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.133	0.580303	0.13686	2.27E-4	0.0	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52754	0.65;0.65	5.42	-8.12	0.01078	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.001	T	0.16247	-1.0409	9	0.36615	T	0.2	.	4.8782	0.13667	0.1008:0.1248:0.1321:0.6422	.	2146;2216	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	I	2146	ENSP00000164024:V2146I;ENSP00000445694:V2146I	ENSP00000164024:V2146I	V	-	1	0	CELSR3	48662953	0.000000	0.05858	0.000000	0.03702	0.755000	0.42902	-0.476000	0.06591	-1.442000	0.01955	-0.769000	0.03391	GTC	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	C	NM_001407	rs199670636		48687949	-1	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	SNP	0.001	T	T	48687949	C	T	48687949	3	4	179	1	0	0	0	0	1	0	0	0	3225	536	19	1	3582	1	CELSR3	3	48687949	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	124910	48687949	149334481	25	12538											
DUSP7	1849	genome.wustl.edu	37	chr3	52088158	52088158	+	Frame_Shift_Del	DEL	G	G	-													gcgcagccgaggtagaggtaGggcaggatctggacagggaa							TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:52088158delG	ENST00000495880.1	-	2	933	c.750delC	c.(748-750)cccfs	p.P250fs	DUSP7_ENST00000296483.6_Frame_Shift_Del_p.P199fs			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	250					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTAGAGGTAGGGCAGGATCT	0.617																																																	0								ENSG00000164086						207	185	193					3																	52088158		2203	4300	6503	DUSP7	SO:0001589	frameshift_variant	0				HGNC	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.750delC	3.37:g.52088158delG	ENSP00000417183:p.Pro250fs	Somatic	0	36	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q2M3J7|Q8NFJ0	Frame_Shift_Del	DEL							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y200fs	ENST00000495880.1	37	c.597	CCDS33766.2	3																																																																																			-	smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat		0.617	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	protein_coding	OTTHUMT00000349697.1	G	NM_001947			52088158	-1	no_errors	ENST00000296483	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52088158	G	-	52088158	7	5	179	1	0	1	0	1	0	0	0	0	4832	987	35	0	517	0	DUSP7	3	52088158	Frame_Shift_Del	DEL	G	TCGA-LI-A9QH-01A-11D-A37C-09	3400209	52088158	145934272	26	12539											
NISCH	11188	genome.wustl.edu	37	chr3	52505860	52505860	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgggggccggcgaggtctTtgccattggacccctgcagc	15	14	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:52505860T>A	ENST00000479054.1	+	6	512	c.440T>A	c.(439-441)tTt>tAt	p.F147Y	NISCH_ENST00000488380.1_Missense_Mutation_p.F147Y|NISCH_ENST00000420808.2_Missense_Mutation_p.F147Y|NISCH_ENST00000345716.4_Missense_Mutation_p.F147Y			Q9Y2I1	NISCH_HUMAN	nischarin	147	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GGCGAGGTCTTTGCCATTGGA	0.642											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000010322						43	48	46					3																	52505860		2203	4300	6503	NISCH	SO:0001583	missense	0			-	HGNC	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.440T>A	3.37:g.52505860T>A	ENSP00000418232:p.Phe147Tyr	Somatic	0	88	0	985	0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP							pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.F147Y	ENST00000479054.1	37	c.440	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	T	32	5.106805	0.94292	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.09073	3.02;3.02;3.17;3.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	L	0.59436	1.845	0.50632	D	0.999884	D;D	0.76494	0.997;0.999	D;D	0.68483	0.914;0.958	T	0.00540	-1.1681	10	0.36615	T	0.2	-11.7344	14.0776	0.64900	0.0:0.0:0.0:1.0	.	147;147	Q9Y2I1;C9J715	NISCH_HUMAN;.	Y	147	ENSP00000418232:F147Y;ENSP00000339958:F147Y;ENSP00000417812:F147Y;ENSP00000392484:F147Y	ENSP00000339958:F147Y	F	+	2	0	NISCH	52480900	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.049000	0.76613	2.067000	0.61834	0.459000	0.35465	TTT	-	NULL		0.642	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	T	NM_007184	-		52505860	1	no_errors	ENST00000345716	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52505860	T	A	52505860	3	1	179	1	0	0	0	0	1	0	0	0	10434	1841	64	5	458	5	NISCH	3	52505860	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	417702	52505860	145516570	27	12540											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54871231	54871231	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaccactgtagccatgCctgtgtttagtaagcagaac	10	9	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:54871231C>G	ENST00000474759.1	+	15	1492	c.1444C>G	c.(1444-1446)Cct>Gct	p.P482A	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P482A|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P482A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P388A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	482	Cache.					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)	TGTAGCCATGCCTGTGTTTAG	0.537																																																	0								ENSG00000157445						210	206	207					3																	54871231		2005	4171	6176	CACNA2D3	SO:0001583	missense	0			-	HGNC	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.1444C>G	3.37:g.54871231C>G	ENSP00000419101:p.Pro482Ala	Somatic	0	36	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP							pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P482A	ENST00000474759.1	37	c.1444	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680916	0.88542	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.16457	2.34;2.34;2.34;2.38	6.06	6.06	0.98353	Cache (1);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.76574	2.34	0.54753	D	0.999989	D	0.89917	1.0	D	0.83275	0.996	T	0.09729	-1.0661	10	0.45353	T	0.12	-13.8408	18.8014	0.92018	0.0:1.0:0.0:0.0	.	482	Q8IZS8	CA2D3_HUMAN	A	482;482;482;388;388;381	ENSP00000389506:P482A;ENSP00000419101:P482A;ENSP00000288197:P482A;ENSP00000417279:P388A	ENSP00000288197:P482A	P	+	1	0	CACNA2D3	54846271	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.925000	0.75829	2.882000	0.98803	0.655000	0.94253	CCT	-	pfam_Cache_domain		0.537	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	C		-		54871231	1	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54871231	C	G	54871231	3	3	179	1	0	0	0	0	1	0	0	0	2552	739	26	4	1502	4	CACNA2D3	3	54871231	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	2365371	54871231	143151199	28	12541											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133323	119133323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgacaagcaaaattcAaagaatgctgcttctgaggg	10	8	2	3	rs376360791		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:119133323A>G	ENST00000264245.4	+	12	3079	c.2547A>G	c.(2545-2547)tcA>tcG	p.S849S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	849					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCAAAATTCAAAGAATGCTG	0.502																																					Pancreas(7;176 297 5394 51128 51241)												0								ENSG00000031081	A		0,3906		0,0,1953	64	66	65		2547	-0.6	0.2	3		65	1,8285		0,1,4142	no	coding-synonymous	ARHGAP31	NM_020754.2		0,1,6095	GG,GA,AA		0.0121,0.0,0.0082		849/1445	119133323	1,12191	1953	4143	6096	ARHGAP31	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2547A>G	3.37:g.119133323A>G		Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q9ULL6	Silent	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S849	ENST00000264245.4	37	c.2547	CCDS43135.1	3																																																																																			-	NULL		0.502	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	A		-		119133323	1	no_errors	ENST00000264245	ensembl	human	known	74_37	silent	SNP	0.508	G	G	119133323	A	G	119133323	2	3	179	1	0	0	0	0	0	0	0	1	880	117	5	5		5	ARHGAP31	3	119133323	Silent	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	64262092	119133323	78889107	29	12542											
CCDC58	131076	genome.wustl.edu	37	chr3	122087043	122087043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtctgctcttttctaaGttgttttaataacgttaaat	5	6	3	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:122087043G>T	ENST00000291458.5	-	3	310	c.304C>A	c.(304-306)Ctt>Att	p.L102I	CCDC58_ENST00000479899.1_Missense_Mutation_p.L88I|CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000466854.1_5'Flank	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	102						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TCTTTTCTAAGTTGTTTTAAT	0.323																																																	0								ENSG00000160124						104	103	103					3																	122087043		2203	4298	6501	CCDC58	SO:0001583	missense	0			-	HGNC	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.304C>A	3.37:g.122087043G>T	ENSP00000291458:p.Leu102Ile	Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q32LY6	Missense_Mutation	SNP							pfam_Caffeine_induced_death_Cid2	p.L102I	ENST00000291458.5	37	c.304	CCDS33838.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.878839|2.878839	0.51801|0.51801	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.17|5.17	4.23|4.23	0.50019|0.50019	.|.	0.058037|.	0.64402|.	D|.	0.000001|.	T|T	0.74222|0.74222	0.3688|0.3688	M|M	0.74881|0.74881	2.28|2.28	0.41004|0.41004	D|D	0.984953|0.984953	B|.	0.19331|.	0.035|.	B|.	0.28305|.	0.088|.	T|T	0.75539|0.75539	-0.3282|-0.3282	9|5	0.62326|.	D|.	0.03|.	.|.	15.3604|15.3604	0.74469|0.74469	0.0:0.0:0.8513:0.1487|0.0:0.0:0.8513:0.1487	.|.	102|.	Q4VC31|.	CCD58_HUMAN|.	I|N	102;88|98	.|.	ENSP00000291458:L102I|.	L|T	-|-	1|2	0|0	CCDC58|CCDC58	123569733|123569733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.787000|6.787000	0.75099|0.75099	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	CTT|ACT	-	pfam_Caffeine_induced_death_Cid2		0.323	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC58	protein_coding	OTTHUMT00000355754.1	G	NM_001017928	-		122087043	-1	no_errors	ENST00000291458	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122087043	G	T	122087043	3	4	179	1	0	0	0	0	1	0	0	0	2830	1029	36	3	142	3	CCDC58	3	122087043	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	2953720	122087043	75935387	30	12543											
AGTR1	185	genome.wustl.edu	37	chr3	148459060	148459060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttatgctttttactgActttgccactatgggctgtc	8	10	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:148459060A>T	ENST00000497524.1	+	2	629	c.238A>T	c.(238-240)Act>Tct	p.T80S	AGTR1_ENST00000542281.1_Missense_Mutation_p.T80S|AGTR1_ENST00000349243.3_Missense_Mutation_p.T80S|AGTR1_ENST00000418473.2_Missense_Mutation_p.T80S|AGTR1_ENST00000474935.1_Missense_Mutation_p.T80S|AGTR1_ENST00000402260.1_Missense_Mutation_p.T80S|AGTR1_ENST00000461609.1_Missense_Mutation_p.T80S|AGTR1_ENST00000404754.2_Missense_Mutation_p.T80S|AGTR1_ENST00000475347.1_Missense_Mutation_p.T80S	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	80					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTTTTTACTGACTTTGCCACT	0.428																																																	0								ENSG00000144891						78	75	76					3																	148459060		2203	4300	6503	AGTR1	SO:0001583	missense	0			-	HGNC	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.238A>T	3.37:g.148459060A>T	ENSP00000419422:p.Thr80Ser	Somatic	0	31	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q13725|Q8TBK4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt,prints_Brdyknn_rcpt	p.T80S	ENST00000497524.1	37	c.238	CCDS3137.1	3	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798624	0.70567	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;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;-0.7	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.052054	0.85682	D	0.000000	T	0.78521	0.4296	L	0.48986	1.54	0.80722	D	1	D	0.61080	0.989	D	0.65874	0.939	T	0.77528	-0.2554	10	0.37606	T	0.19	-23.1279	14.7728	0.69693	1.0:0.0:0.0:0.0	.	80	P30556	AGTR1_HUMAN	S	80	ENSP00000419422:T80S;ENSP00000273430:T80S;ENSP00000443186:T80S;ENSP00000398832:T80S;ENSP00000385612:T80S;ENSP00000419783:T80S;ENSP00000418084:T80S;ENSP00000418851:T80S;ENSP00000385641:T80S	ENSP00000273430:T80S	T	+	1	0	AGTR1	149941750	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.135000	0.94478	2.071000	0.62044	0.533000	0.62120	ACT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt		0.428	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	protein_coding	OTTHUMT00000355807.1	A		-		148459060	1	no_errors	ENST00000349243	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148459060	A	T	148459060	3	4	179	1	0	0	0	0	1	0	0	0	401	275	10	5	240	5	AGTR1	3	148459060	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	26372017	148459060	49563370	31	12544											
P2RY12	64805	genome.wustl.edu	37	chr3	151056330	151056330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgtgaaataaaatatgaCggaggtaacttgacacacaa	8	6	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:151056330C>T	ENST00000302632.3	-	3	603	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	102					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TAAAATATGACGGAGGTAACT	0.393																																																	0								ENSG00000169313						65	70	68					3																	151056330		2202	4300	6502	P2RY12	SO:0001583	missense	0			-	HGNC	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.304G>A	3.37:g.151056330C>T	ENSP00000307259:p.Val102Ile	Somatic	0	8	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	9	60.87	D3DNJ5|Q546J7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.V102I	ENST00000302632.3	37	c.304	CCDS3159.1	3	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089970	0.76756	.	.	ENSG00000169313	ENST00000302632	T	0.37058	1.22	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.54576	-0.8273	10	0.30854	T	0.27	-28.1525	19.0551	0.93059	0.0:1.0:0.0:0.0	.	102	Q9H244	P2Y12_HUMAN	I	102	ENSP00000307259:V102I	ENSP00000307259:V102I	V	-	1	0	P2RY12	152539020	1.000000	0.71417	0.065000	0.19835	0.646000	0.38490	7.445000	0.80570	2.571000	0.86741	0.650000	0.86243	GTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.393	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY12	protein_coding	OTTHUMT00000357796.1	C		-		151056330	-1	no_errors	ENST00000302632	ensembl	human	known	74_37	missense	SNP	0.994	T	T	151056330	C	T	151056330	3	4	179	1	0	0	0	0	1	0	0	0	11351	536	19	1	728	1	P2RY12	3	151056330	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	2597270	151056330	46966100	32	12545											
MME	4311	genome.wustl.edu	37	chr3	154864940	154864940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattttcataggccttagCaattaaagaaaggatcggct	8	6	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:154864940C>T	ENST00000460393.1	+	15	1544	c.1424C>T	c.(1423-1425)gCa>gTa	p.A475V	MME_ENST00000462745.1_Missense_Mutation_p.A475V|MME_ENST00000493237.1_Missense_Mutation_p.A475V|MME_ENST00000492661.1_Missense_Mutation_p.A475V|MME_ENST00000360490.2_Missense_Mutation_p.A475V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	475					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TAGGCCTTAGCAATTAAAGAA	0.308																																																	0								ENSG00000196549						63	68	66					3																	154864940		2203	4300	6503	MME	SO:0001583	missense	0			-	HGNC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1424C>T	3.37:g.154864940C>T	ENSP00000418525:p.Ala475Val	Somatic	0	44	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A475V	ENST00000460393.1	37	c.1424	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.128381	0.94473	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.84	5.84	0.93424	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.116770	0.64402	D	0.000019	D	0.87047	0.6080	M	0.86097	2.795	0.54753	D	0.999988	D	0.54207	0.965	P	0.52672	0.706	D	0.88360	0.2987	10	0.72032	D	0.01	-23.7183	20.1379	0.98040	0.0:1.0:0.0:0.0	.	475	P08473	NEP_HUMAN	V	475	ENSP00000420389:A475V;ENSP00000418525:A475V;ENSP00000419653:A475V;ENSP00000417079:A475V;ENSP00000353679:A475V	ENSP00000353679:A475V	A	+	2	0	MME	156347634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.173000	0.71937	2.779000	0.95612	0.655000	0.94253	GCA	-	pfam_Peptidase_M13_N		0.308	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	protein_coding	OTTHUMT00000351076.1	C	NM_000902	-		154864940	1	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154864940	C	T	154864940	3	4	179	1	0	0	0	0	1	0	0	0	9647	710	25	2	1478	2	MME	3	154864940	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	3808610	154864940	43157490	33	12546											
MECOM	2122	genome.wustl.edu	37	chr3	168813010	168813010	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttagaagatatgctaAatgatctgtcacagtatttg	9	5	2	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:168813010A>T	ENST00000464456.1	-	11	3482	c.2282T>A	c.(2281-2283)tTt>tAt	p.F761Y	MECOM_ENST00000433243.2_Missense_Mutation_p.F771Y|MECOM_ENST00000264674.3_Missense_Mutation_p.F835Y|MECOM_ENST00000472280.1_Missense_Mutation_p.F771Y|MECOM_ENST00000468789.1_Missense_Mutation_p.F770Y|MECOM_ENST00000392736.3_Missense_Mutation_p.F770Y|MECOM_ENST00000460814.1_Missense_Mutation_p.F761Y|MECOM_ENST00000494292.1_Missense_Mutation_p.F949Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGATATGCTAAATGATCTGTC	0.343																																																	0								ENSG00000085276						102	90	94					3																	168813010		2202	4300	6502	MECOM	SO:0001583	missense	0			-	HGNC	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2282T>A	3.37:g.168813010A>T	ENSP00000419770:p.Phe761Tyr	Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	Q13466|Q6FH90	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.F949Y	ENST00000464456.1	37	c.2846	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	A	31	5.090433	0.94149	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.979;0.999;0.996;0.999	T	0.64512	-0.6390	10	0.87932	D	0	-10.2458	15.8679	0.79080	1.0:0.0:0.0:0.0	.	958;762;949;835;770	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Y	835;770;761;771;949;770;761;771	ENSP00000264674:F835Y;ENSP00000376493:F770Y;ENSP00000419770:F761Y;ENSP00000420048:F771Y;ENSP00000417899:F949Y;ENSP00000419995:F770Y;ENSP00000420466:F761Y;ENSP00000394302:F771Y	ENSP00000264674:F835Y	F	-	2	0	MECOM	170295704	1.000000	0.71417	0.826000	0.32828	0.896000	0.52359	9.281000	0.95811	2.166000	0.68216	0.459000	0.35465	TTT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	protein_coding	OTTHUMT00000351519.1	A	NM_005241, NM_004991	-		168813010	-1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	168813010	A	T	168813010	3	4	179	1	0	0	0	0	1	0	0	0	9424	14	1	5	866	5	MECOM	3	168813010	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	13948070	168813010	29209420	34	12547											
ARPM1	84517	genome.wustl.edu	37	chr3	169485726	169485726	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcttcaacaatctttcTgtctgaagcactgagcaaca	7	10	5	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:169485726T>G	ENST00000330368.2	-	2	987	c.613A>C	c.(613-615)Aga>Cga	p.R205R	RP11-816J6.3_ENST00000602879.1_RNA|TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	205						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											ACAATCTTTCTGTCTGAAGCA	0.448																																																	0								ENSG00000184378						156	148	151					3																	169485726		2203	4300	6503	ACTRT3	SO:0001819	synonymous_variant	0			-	HGNC	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.613A>C	3.37:g.169485726T>G		Somatic	0	34	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	12	55.56	Q96IS0|Q96NJ0	Silent	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R205	ENST00000330368.2	37	c.613	CCDS3206.1	3																																																																																			-	pfam_Actin-related,smart_Actin-related		0.448	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	protein_coding	OTTHUMT00000467797.1	T	NM_032487	-		169485726	-1	no_errors	ENST00000330368	ensembl	human	known	74_37	silent	SNP	0.999	G	G	169485726	T	G	169485726	2	3	179	1	0	0	0	0	0	0	0	1	976	1588	55	5		5	ARPM1	3	169485726	Silent	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	672716	169485726	28536704	35	12548											
TNIK	23043	genome.wustl.edu	37	chr3	170841407	170841407	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgatgggttgagatcCtagtctgggtcccagagcac	13	10	2	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:170841407C>G	ENST00000436636.2	-	18	2442	c.2098G>C	c.(2098-2100)Gga>Cga	p.G700R	TNIK_ENST00000470834.1_Missense_Mutation_p.G671R|TNIK_ENST00000357327.5_Missense_Mutation_p.G671R|TNIK_ENST00000538048.1_Missense_Mutation_p.G645R|TNIK_ENST00000460047.1_Missense_Mutation_p.G645R|TNIK_ENST00000488470.1_Missense_Mutation_p.G645R|TNIK_ENST00000341852.6_Missense_Mutation_p.G616R|TNIK_ENST00000284483.8_Missense_Mutation_p.G700R|TNIK_ENST00000369326.5_Missense_Mutation_p.G671R|TNIK_ENST00000475336.1_Missense_Mutation_p.G616R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	700	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGAGATCCTAGTCTGGGT	0.448																																																	0								ENSG00000154310						115	102	106					3																	170841407		1860	4097	5957	TNIK	SO:0001583	missense	0			-	HGNC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2098G>C	3.37:g.170841407C>G	ENSP00000399511:p.Gly700Arg	Somatic	0	64	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.G700R	ENST00000436636.2	37	c.2098	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.130126	0.94473	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73047	-0.7;-0.67;-0.69;-0.71;-0.7;-0.69;-0.68;-0.71;-0.7;-0.69	6.17	6.17	0.99709	.	0.055823	0.64402	D	0.000001	T	0.78489	0.4291	L	0.33485	1.01	0.80722	D	1	P;D;P;P;D;D;P;D	0.61697	0.846;0.978;0.846;0.846;0.99;0.99;0.846;0.983	P;D;P;P;D;D;P;P	0.66847	0.714;0.923;0.714;0.714;0.947;0.923;0.714;0.84	T	0.75431	-0.3320	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	616;671;645;616;700;671;645;700	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	700;671;645;616;700;616;671;645;645;671	ENSP00000399511:G700R;ENSP00000358332:G671R;ENSP00000443278:G645R;ENSP00000345352:G616R;ENSP00000284483:G700R;ENSP00000418156:G616R;ENSP00000349880:G671R;ENSP00000418916:G645R;ENSP00000418378:G645R;ENSP00000419990:G671R	ENSP00000284483:G700R	G	-	1	0	TNIK	172324101	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.206000	0.77891	2.941000	0.99782	0.655000	0.94253	GGA	-	NULL		0.448	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	protein_coding	OTTHUMT00000352973.2	C	XM_039796	-		170841407	-1	no_errors	ENST00000436636	ensembl	human	known	74_37	missense	SNP	1.000	G	G	170841407	C	G	170841407	3	3	179	1	0	0	0	0	1	0	0	0	16320	690	24	4	2048	4	TNIK	3	170841407	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	1355681	170841407	27181023	36	12549											
LAMP3	27074	genome.wustl.edu	37	chr3	182872145	182872145	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctggtttctggaaatgcTtttgctctcatttgactgcc	8	10	3	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr3:182872145T>C	ENST00000265598.3	-	2	339	c.84A>G	c.(82-84)aaA>aaG	p.K28K	LAMP3_ENST00000466939.1_Silent_p.K4K	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	28					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGGAAATGCTTTTGCTCTCA	0.413																																																	0								ENSG00000078081						134	125	128					3																	182872145		2203	4300	6503	LAMP3	SO:0001819	synonymous_variant	0			-	HGNC	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.84A>G	3.37:g.182872145T>C		Somatic	0	29	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	D3DNS4|O94781|Q8NEC8	Silent	SNP							pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.K28	ENST00000265598.3	37	c.84	CCDS3242.1	3																																																																																			-	NULL		0.413	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	protein_coding	OTTHUMT00000350863.1	T		-		182872145	-1	no_errors	ENST00000265598	ensembl	human	known	74_37	silent	SNP	0.000	C	C	182872145	T	C	182872145	2	2	179	1	0	0	0	0	0	0	0	1	8621	1606	56	5		5	LAMP3	3	182872145	Silent	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	12030738	182872145	15150285	37	12550											
PDS5A	23244	genome.wustl.edu	37	chr4	39891901	39891901	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaatcaatgtgcacaggtgcGattctttccaacagaaattt	8	8	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr4:39891901G>T	ENST00000303538.8	-	17	2393	c.1854C>A	c.(1852-1854)atC>atA	p.I618I		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCACAGGTGCGATTCTTTCCA	0.353																																																	0								ENSG00000121892						76	72	73					4																	39891901		1825	4085	5910	PDS5A	SO:0001819	synonymous_variant	0			-	HGNC	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1854C>A	4.37:g.39891901G>T		Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63		Silent	SNP							superfamily_ARM-type_fold	p.I618	ENST00000303538.8	37	c.1854	CCDS47045.1	4																																																																																			-	superfamily_ARM-type_fold		0.353	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	protein_coding	OTTHUMT00000361287.1	G	NM_015200	-		39891901	-1	no_errors	ENST00000303538	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39891901	G	T	39891901	2	4	179	1	0	0	0	0	0	0	0	1	11693	1048	37	3		3	PDS5A	4	39891901	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		39891901	151262375	38	12551											
RBM47	54502	genome.wustl.edu	37	chr4	40439840	40439840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgttgtaggggtagccGtagtaggccagtgtgtaggg	19	6	0	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr4:40439840G>A	ENST00000381793.2	-	3	1467	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	RBM47_ENST00000319592.4_Silent_p.Y357Y|RBM47_ENST00000514014.1_Silent_p.Y319Y|RBM47_ENST00000381795.6_Silent_p.Y357Y|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.Y357Y			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	357					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGGGGTAGCCGTAGTAGGCCA	0.642																																																	0								ENSG00000163694						44	45	45					4																	40439840		2203	4300	6503	RBM47	SO:0001819	synonymous_variant	0			-	HGNC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1071C>T	4.37:g.40439840G>A		Somatic	0	47	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Y357	ENST00000381793.2	37	c.1071	CCDS43223.1	4																																																																																			-	tigrfam_HnRNP_R/Q_splicing_fac		0.642	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	protein_coding	OTTHUMT00000250456.2	G	NM_019027	-		40439840	-1	no_errors	ENST00000295971	ensembl	human	known	74_37	silent	SNP	0.998	A	A	40439840	G	A	40439840	2	1	179	1	0	0	0	0	0	0	0	1	13149	1140	40	1		1	RBM47	4	40439840	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	547939	40439840	150714436	39	12552											
MMRN1	22915	genome.wustl.edu	37	chr4	90830469	90830469	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaggttatctcccacagtGatattggacaaccaggtcac	8	12	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr4:90830469G>T	ENST00000394980.1	+	3	985	c.666G>T	c.(664-666)gtG>gtT	p.V222V	MMRN1_ENST00000508372.1_5'UTR|MMRN1_ENST00000264790.2_Silent_p.V222V|MMRN1_ENST00000394981.1_Silent_p.V188V			Q13201	MMRN1_HUMAN	multimerin 1	222	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCCCACAGTGATATTGGACA	0.398																																																	0								ENSG00000138722						123	114	117					4																	90830469		2203	4299	6502	MMRN1	SO:0001819	synonymous_variant	0			-	HGNC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.666G>T	4.37:g.90830469G>T		Somatic	0	38	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP							pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.V222	ENST00000394980.1	37	c.666	CCDS3635.1	4																																																																																			-	pfam_EMI_domain,pfscan_EMI_domain		0.398	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	G	NM_007351	-		90830469	1	no_errors	ENST00000264790	ensembl	human	known	74_37	silent	SNP	0.764	T	T	90830469	G	T	90830469	2	4	179	1	0	0	0	0	0	0	0	1	9672	1277	45	3		3	MMRN1	4	90830469	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	50390629	90830469	100323807	40	12553											
TRPC3	7222	genome.wustl.edu	37	chr4	122853434	122853434	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcaaagcttaccttgaactCcttctctatgttggccagct	7	13	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr4:122853434C>G	ENST00000379645.3	-	2	1052	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	TRPC3_ENST00000513531.1_Missense_Mutation_p.E254Q|TRPC3_ENST00000264811.5_Missense_Mutation_p.E254Q	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	242					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACCTTGAACTCCTTCTCTATG	0.617																																																	0								ENSG00000138741						48	39	42					4																	122853434		2203	4300	6503	TRPC3	SO:0001583	missense	0			-	HGNC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.979G>C	4.37:g.122853434C>G	ENSP00000368966:p.Glu327Gln	Somatic	0	15	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	8	65.22	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.E327Q	ENST00000379645.3	37	c.979	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725960	0.89298	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.88509	-2.39;-2.39;-2.39	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.79614	2.46	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79108	0.964;0.992	D	0.95012	0.8152	10	0.87932	D	0	-18.6823	19.0581	0.93074	0.0:1.0:0.0:0.0	.	254;327	E9PCJ9;Q5G1L5	.;.	Q	254;327;254	ENSP00000264811:E254Q;ENSP00000368966:E327Q;ENSP00000426899:E254Q	ENSP00000264811:E254Q	E	-	1	0	TRPC3	123072884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	2.488000	0.83962	0.655000	0.94253	GAG	-	pfam_TRP_dom,tigrfam_TRP_channel		0.617	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	protein_coding	OTTHUMT00000364252.1	C	NM_003305	-		122853434	-1	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	SNP	1.000	G	G	122853434	C	G	122853434	3	3	179	1	0	0	0	0	1	0	0	0	16586	864	30	4	1830	4	TRPC3	4	122853434	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	32022965	122853434	68300842	41	12554											
TBC1D9	23158	genome.wustl.edu	37	chr4	141592016	141592016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggaaggtcatcctgtttCgggtgctgatggataaggga	15	5	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr4:141592016C>T	ENST00000442267.2	-	7	1198	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	375							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATCCTGTTTCGGGTGCTGAT	0.433																																																	0								ENSG00000109436						165	166	165					4																	141592016		1937	4153	6090	TBC1D9	SO:0001583	missense	0			-	HGNC	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1124G>A	4.37:g.141592016C>T	ENSP00000411197:p.Arg375Gln	Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.R375Q	ENST00000442267.2	37	c.1124	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483496	0.63962	.	.	ENSG00000109436	ENST00000442267	T	0.08807	3.05	5.45	3.35	0.38373	.	0.087564	0.85682	D	0.000000	T	0.08223	0.0205	L	0.49778	1.585	0.43667	D	0.996098	B	0.31256	0.316	B	0.31751	0.135	T	0.18023	-1.0350	10	0.36615	T	0.2	-9.8788	6.8771	0.24153	0.0:0.6943:0.0:0.3057	.	375	Q6ZT07	TBCD9_HUMAN	Q	375	ENSP00000411197:R375Q	ENSP00000411197:R375Q	R	-	2	0	TBC1D9	141811466	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.411000	0.52672	1.426000	0.47256	0.650000	0.86243	CGA	-	NULL		0.433	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	protein_coding	OTTHUMT00000364806.1	C	NM_015130	-		141592016	-1	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141592016	C	T	141592016	3	4	179	1	0	0	0	0	1	0	0	0	15634	884	31	1	2736	1	TBC1D9	4	141592016	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	18738582	141592016	49562260	42	12555											
TTC23L	153657	genome.wustl.edu	37	chr5	34880291	34880291	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatttttccagatgctGttgagatatatttcataaga	6	5	2	3	rs535984245		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr5:34880291G>C	ENST00000505624.1	+	9	1058	c.955G>C	c.(955-957)Gtt>Ctt	p.V319L	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	319										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TCCAGATGCTGTTGAGATATA	0.348																																																	0								ENSG00000205838						90	87	88					5																	34880291		1824	4090	5914	TTC23L	SO:0001583	missense	0			-	HGNC		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.955G>C	5.37:g.34880291G>C	ENSP00000422188:p.Val319Leu	Somatic	0	19	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP							NULL	p.V319L	ENST00000505624.1	37	c.955	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	g	10.29	1.308269	0.23821	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.11385	2.78	4.5	3.58	0.41010	Tetratricopeptide-like helical (1);	0.085601	0.44285	U	0.000465	T	0.10981	0.0268	L	0.57536	1.79	0.23156	N	0.998203	B	0.22683	0.073	B	0.23716	0.048	T	0.19943	-1.0290	9	.	.	.	-19.4344	7.3221	0.26533	0.1317:0.0:0.8683:0.0	.	319	Q6PF05	TT23L_HUMAN	L	319	ENSP00000422188:V319L	.	V	+	1	0	TTC23L	34916048	0.995000	0.38212	0.951000	0.38953	0.275000	0.26752	3.161000	0.50747	1.159000	0.42565	0.580000	0.79431	GTT	-	NULL		0.348	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	protein_coding	OTTHUMT00000366819.1	G	NM_144725	-		34880291	1	no_errors	ENST00000505624	ensembl	human	known	74_37	missense	SNP	0.971	C	C	34880291	G	C	34880291	3	2	179	1	0	0	0	0	1	0	0	0	16698	1377	48	4	985	4	TTC23L	5	34880291	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		34880291	146034969	43	12556											
ZNF366	167465	genome.wustl.edu	37	chr5	71756678	71756678	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctcctggggctcggcttTccggggcagcagaggttccg	16	13	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr5:71756678T>A	ENST00000318442.5	-	2	1136	c.646A>T	c.(646-648)Aaa>Taa	p.K216*		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	216					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCTCGGCTTTCCGGGGCAGC	0.652																																																	0								ENSG00000178175						66	69	68					5																	71756678		2203	4300	6503	ZNF366	SO:0001587	stop_gained	0			-	HGNC	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.646A>T	5.37:g.71756678T>A	ENSP00000313158:p.Lys216*	Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	Q5HYI9|Q7RTV4	Nonsense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K216*	ENST00000318442.5	37	c.646	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	T	37	6.313624	0.97467	.	.	ENSG00000178175	ENST00000318442	.	.	.	5.64	1.77	0.24775	.	0.366026	0.26289	N	0.025237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-9.2682	6.7844	0.23665	0.0:0.1363:0.1287:0.7351	.	.	.	.	X	216	.	ENSP00000313158:K216X	K	-	1	0	ZNF366	71792434	0.001000	0.12720	0.002000	0.10522	0.966000	0.64601	1.168000	0.31859	0.441000	0.26529	0.459000	0.35465	AAA	-	NULL		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	protein_coding	OTTHUMT00000218574.3	T		-		71756678	-1	no_errors	ENST00000318442	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	71756678	T	A	71756678	4	1	179	1	0	0	0	0	0	1	0	0	17877	1792	62	5	1604	5	ZNF366	5	71756678	Nonsense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	36876387	71756678	109158582	44	12557											
PCDHA12	56137	genome.wustl.edu	37	chr5	140257091	140257091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggccaggccccaaagacGtcgtcgcgggcctcagtggg	15	14	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr5:140257091G>A	ENST00000398631.2	+	1	2034	c.2034G>A	c.(2032-2034)acG>acA	p.T678T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	678	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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAAAGACGTCGTCGCGGG	0.657																																					Pancreas(113;759 1672 13322 24104 50104)												0								ENSG00000251664						42	47	45					5																	140257091		2203	4300	6503	PCDHA12	SO:0001819	synonymous_variant	0			-	HGNC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2034G>A	5.37:g.140257091G>A		Somatic	0	55	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	33	42.11	O75278|Q2M1N8	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T678	ENST00000398631.2	37	c.2034	CCDS47285.1	5																																																																																			-	pfscan_Cadherin		0.657	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	protein_coding	OTTHUMT00000372882.2	G	NM_018903	-		140257091	1	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	SNP	0.000	A	A	140257091	G	A	140257091	2	1	179	1	0	0	0	0	0	0	0	1	11524	1132	40	1		1	PCDHA12	5	140257091	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	68500413	140257091	40658169	45	12558											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33412335	33412335	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgagagtgcccacatcgagCgggaagagtacaagctcaag	13	10	1	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr6:33412335C>A	ENST00000418600.2	+	16	3624	c.3523C>A	c.(3523-3525)Cgg>Agg	p.R1175R	SYNGAP1_ENST00000428982.2_Silent_p.R1116R|SYNGAP1_ENST00000293748.5_Silent_p.R1175R|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1175					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						CCACATCGAGCGGGAAGAGTA	0.562																																																	0								ENSG00000197283						78	65	69					6																	33412335		2203	4300	6503	SYNGAP1	SO:0001819	synonymous_variant	0			-	HGNC	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.3523C>A	6.37:g.33412335C>A		Somatic	0	33	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP							pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.R1175	ENST00000418600.2	37	c.3523	CCDS34434.2	6																																																																																			-	pfam_DUF3498		0.562	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407	-		33412335	1	no_errors	ENST00000418600	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33412335	C	A	33412335	2	1	179	1	0	0	0	0	0	0	0	1	15454	759	27	3		3	SYNGAP1	6	33412335	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09		33412335	137702732	46	12559											
MAP3K7	6885	genome.wustl.edu	37	chr6	91269900	91269900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcattgcgtgggcagcaGtataatatggcaatggttca	11	7	2	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr6:91269900G>T	ENST00000369329.3	-	5	538	c.377C>A	c.(376-378)aCt>aAt	p.T126N	MAP3K7_ENST00000369327.3_Missense_Mutation_p.T126N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.T126N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.T126N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	126	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTGGGCAGCAGTATAATATGG	0.433																																																	0								ENSG00000135341						192	163	173					6																	91269900		2203	4300	6503	MAP3K7	SO:0001583	missense	0			-	HGNC	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.377C>A	6.37:g.91269900G>T	ENSP00000358335:p.Thr126Asn	Somatic	0	24	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP							pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T126N	ENST00000369329.3	37	c.377	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699285	0.88830	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.25	5.25	0.73442	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.38175	1.15	0.80722	D	1	P;P;D;P	0.58970	0.855;0.855;0.984;0.881	P;P;P;P	0.55391	0.57;0.465;0.775;0.601	T	0.01452	-1.1351	10	0.19147	T	0.46	.	19.2089	0.93746	0.0:0.0:1.0:0.0	.	126;126;126;126	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	N	126	ENSP00000358338:T126N;ENSP00000358335:T126N;ENSP00000358331:T126N;ENSP00000358333:T126N	ENSP00000358331:T126N	T	-	2	0	MAP3K7	91326621	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	9.813000	0.99286	2.611000	0.88343	0.585000	0.79938	ACT	-	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.433	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	protein_coding	OTTHUMT00000041530.1	G	NM_145331	-		91269900	-1	no_errors	ENST00000369329	ensembl	human	known	74_37	missense	SNP	1.000	T	T	91269900	G	T	91269900	3	4	179	1	0	0	0	0	1	0	0	0	9257	1029	36	3	1495	3	MAP3K7	6	91269900	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	57857565	91269900	79845167	47	12560											
C6orf168	84553	genome.wustl.edu	37	chr6	99729131	99729131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatctgtgtctggggttctgGaaaaactgttttctgctccc	10	9	4	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr6:99729131G>A	ENST00000389677.5	-	6	1421	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	FAXC_ENST00000538471.1_Missense_Mutation_p.S100F|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	380						integral component of membrane (GO:0016021)											TGGGGTTCTGGAAAAACTGTT	0.488																																																	0								ENSG00000146267						140	144	143					6																	99729131		2203	4300	6503	FAXC	SO:0001583	missense	0			-	HGNC	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1139C>T	6.37:g.99729131G>A	ENSP00000374328:p.Ser380Phe	Somatic	0	30	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	57	14.93	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP							superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.S380F	ENST00000389677.5	37	c.1139	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895567	0.52121	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.13	5.13	0.70059	.	0.138539	0.51477	D	0.000100	T	0.50803	0.1637	L	0.44542	1.39	0.48830	D	0.99971	D	0.54207	0.965	P	0.48141	0.568	T	0.58668	-0.7596	9	0.87932	D	0	-24.2005	18.6087	0.91276	0.0:0.0:1.0:0.0	.	380	Q5TGI0	CF168_HUMAN	F	380;100	.	ENSP00000374328:S380F	S	-	2	0	C6orf168	99835852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.768000	0.68858	2.384000	0.81235	0.655000	0.94253	TCC	-	NULL		0.488	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	protein_coding	OTTHUMT00000041589.4	G	NM_032511	-		99729131	-1	no_errors	ENST00000389677	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99729131	G	A	99729131	3	1	179	1	0	0	0	0	1	0	0	0	2345	1174	41	2	94	2	C6orf168	6	99729131	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	8459231	99729131	71385936	48	12561											
TAAR6	319100	genome.wustl.edu	37	chr6	132892363	132892363	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgctgttggtgtgcttaTtataactcagccatgaatcc	8	8	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr6:132892363T>C	ENST00000275198.1	+	1	903	c.903T>C	c.(901-903)taT>taC	p.Y301Y		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	301					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GGTGTGCTTATTATAACTCAG	0.333																																																	0								ENSG00000146383						116	118	117					6																	132892363		2203	4300	6503	TAAR6	SO:0001819	synonymous_variant	0			-	HGNC	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.903T>C	6.37:g.132892363T>C		Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	37	57.47	Q5VUQ4	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.Y301	ENST00000275198.1	37	c.903	CCDS5155.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.333	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR6	protein_coding	OTTHUMT00000042255.1	T	NM_175067	-		132892363	1	no_errors	ENST00000275198	ensembl	human	known	74_37	silent	SNP	0.992	C	C	132892363	T	C	132892363	2	2	179	1	0	0	0	0	0	0	0	1	15499	1500	52	5		5	TAAR6	6	132892363	Silent	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	33163232	132892363	38222704	49	12562											
SLC22A1	6580	genome.wustl.edu	37	chr6	160575836	160575836	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtattttatcaggaacctCggagtgatggtgtgttcctc	11	7	1	1	rs536418062	byFrequency	TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr6:160575836C>T	ENST00000366963.4	+	9	1539	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	SLC22A1_ENST00000324965.4_Intron|SLC22A1_ENST00000457470.2_Intron	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	464					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TCAGGAACCTCGGAGTGATGG	0.438													C|||	2	0.000399361	8e-04	0	5008	,	,		22831	0.001		0	False		,,,				2504	0																0								ENSG00000175003						171	149	156					6																	160575836		2203	4300	6503	SLC22A1	SO:0001819	synonymous_variant	0			-	HGNC	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1392C>T	6.37:g.160575836C>T		Somatic	0	53	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	52	44.09	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L464	ENST00000366963.4	37	c.1392	CCDS5274.1	6																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.438	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	protein_coding	OTTHUMT00000042938.2	C		-		160575836	1	no_errors	ENST00000366963	ensembl	human	known	74_37	silent	SNP	0.235	T	T	160575836	C	T	160575836	2	4	179	1	0	0	0	0	0	0	0	1	14448	871	31	1		1	SLC22A1	6	160575836	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	27683473	160575836	10539231	50	12563											
MAD1L1	8379	genome.wustl.edu	37	chr7	1938010	1938010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagctcggcactctcCacctgcttcttcagctctgc	6	17	6	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:1938010C>T	ENST00000406869.1	-	18	2381	c.1824G>A	c.(1822-1824)gtG>gtA	p.V608V	MAD1L1_ENST00000402746.1_Silent_p.V516V|MAD1L1_ENST00000399654.2_Silent_p.V608V|MAD1L1_ENST00000265854.7_Silent_p.V608V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	608					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGGCACTCTCCACCTGCTTCT	0.647																																																	0								ENSG00000002822						106	116	113					7																	1938010		2089	4205	6294	MAD1L1	SO:0001819	synonymous_variant	0			-	HGNC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1824G>A	7.37:g.1938010C>T		Somatic	0	16	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	6	80.00	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP							pfam_Mad1	p.V608	ENST00000406869.1	37	c.1824	CCDS43539.1	7																																																																																			-	pfam_Mad1		0.647	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAD1L1	protein_coding	OTTHUMT00000322871.1	C	NM_003550	-		1938010	-1	no_errors	ENST00000265854	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1938010	C	T	1938010	2	4	179	1	0	0	0	0	0	0	0	1	9149	581	21	2		2	MAD1L1	7	1938010	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09		1938010	157200653	51	12564											
SFRP4	6424	genome.wustl.edu	37	chr7	37951720	37951720	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcctctttgtgcctaCcttgagcgccactcgtaaca	7	15	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:37951720C>A	ENST00000436072.2	-	4	1169		c.e4+1		EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4						brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTGTGCCTACCTTGAGCGCC	0.438																																																	0								ENSG00000106483						149	142	145					7																	37951720		2203	4300	6503	SFRP4	SO:0001630	splice_region_variant	0			-	HGNC	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.791+1G>T	7.37:g.37951720C>A		Somatic	0	41	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Splice_Site	SNP							-	e4+1	ENST00000436072.2	37	c.791+1	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900766	0.72754	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6559	0.91453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFRP4	37918245	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.478000	0.73596	2.684000	0.91462	0.650000	0.86243	.	-	-		0.438	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	protein_coding	OTTHUMT00000220017.2	C	NM_003014	-	Intron	37951720	-1	no_errors	ENST00000436072	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	37951720	C	A	37951720	5	1	179	1	0	0	0	0	0	0	1	0	14171	521	18	3	260	3	SFRP4	7	37951720	Splice_Site	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	36013710	37951720	121186943	52	12565											
FAM133B	257415	genome.wustl.edu	37	chr7	92207637	92207638	+	Frame_Shift_Ins	INS	-	-	T													taaaagtggtattacctgtcINStttttttggatgagctctca							TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:92207637_92207638insT	ENST00000445716.1	-	4	373_374	c.271_272insA	c.(271-273)agafs	p.R91fs	FAM133B_ENST00000427372.1_Frame_Shift_Ins_p.R81fs|FAM133B_ENST00000438306.1_Frame_Shift_Ins_p.R81fs	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	91	Lys-rich.|Ser-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTACCTGTCTTTTTTTGGAT	0.342																																																	0								ENSG00000234545																																			FAM133B	SO:0001589	frameshift_variant	0				HGNC		CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.272dupA	7.37:g.92207644_92207644dupT	ENSP00000398401:p.Arg91fs	Somatic	0	46	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	B2R994|Q05D67|Q6P5S6|Q8N0W8	Frame_Shift_Ins	INS							NULL	p.R91fs	ENST00000445716.1	37	c.272_271	CCDS47640.1	7																																																																																			-	NULL		0.342	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133B	protein_coding	OTTHUMT00000342181.2	-	NM_001040057			92207638	-1	no_errors	ENST00000445716	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	92207638	-	T	92207637	7	5	179	1	0	1	1	0	0	0	0	0	5446	913	32	0	503	0	FAM133B	7	92207637	Frame_Shift_Ins	INS	-	TCGA-LI-A9QH-01A-11D-A37C-09	54255917	92207637	66931026	53	12566											
C7orf47	221908	genome.wustl.edu	37	chr7	100033348	100033348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccggcacctgcaggctcAccaggtcccggaagagccgc	12	18	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:100033348A>G	ENST00000292330.2	-	3	684	c.494T>C	c.(493-495)gTg>gCg	p.V165A	RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_Intron|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	165					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CTGCAGGCTCACCAGGTCCCG	0.687																																																	0								ENSG00000160813						15	17	17					7																	100033348		2196	4297	6493	PPP1R35	SO:0001583	missense	0			-	HGNC	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28320	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 47"	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.494T>C	7.37:g.100033348A>G	ENSP00000292330:p.Val165Ala	Somatic	0	42	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A4D2C5	Missense_Mutation	SNP							NULL	p.V165A	ENST00000292330.2	37	c.494	CCDS5694.1	7	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543122	0.86022	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.6	3.43	0.39272	.	0.000000	0.64402	D	0.000013	T	0.47637	0.1456	L	0.55481	1.735	0.35763	D	0.82035	P	0.35348	0.496	B	0.38264	0.269	T	0.58148	-0.7687	9	0.72032	D	0.01	-31.2218	8.188	0.31350	0.7966:0.2034:0.0:0.0	.	165	Q8TAP8	PPR35_HUMAN	A	165	.	ENSP00000292330:V165A	V	-	2	0	C7orf47	99871284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.132000	0.50523	0.784000	0.33661	0.459000	0.35465	GTG	-	NULL		0.687	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R35	protein_coding	OTTHUMT00000356095.2	A	NM_145030	-		100033348	-1	no_errors	ENST00000292330	ensembl	human	known	74_37	missense	SNP	1.000	G	G	100033348	A	G	100033348	3	3	179	1	0	0	0	0	1	0	0	0	2399	159	6	5	275	5	C7orf47	7	100033348	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	7825711	100033348	59105315	54	12567											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518852	113518852	+	Frame_Shift_Del	DEL	G	G	-													gctgtttcctttacctcgatGggcctgtcacttcgtgctgt							TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:113518852delG	ENST00000284601.3	-	4	2363	c.2295delC	c.(2293-2295)cccfs	p.P765fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	765					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						TTACCTCGATGGGCCTGTCAC	0.403																																																	0								ENSG00000154415						126	111	116					7																	113518852		2203	4299	6502	PPP1R3A	SO:0001589	frameshift_variant	0				HGNC	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.2295delC	7.37:g.113518852delG	ENSP00000284601:p.Pro765fs	Somatic	0	16	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Del	DEL							pfam_CBM_21,pfscan_CBM_21	p.I766fs	ENST00000284601.3	37	c.2295	CCDS5759.1	7																																																																																			-	NULL		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	G	NM_002711			113518852	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	113518852	G	-	113518852	7	5	179	1	0	1	0	1	0	0	0	0	12376	1335	47	0	1077	0	PPP1R3A	7	113518852	Frame_Shift_Del	DEL	G	TCGA-LI-A9QH-01A-11D-A37C-09	13485504	113518852	45619811	55	12568											
SSPO	23145	genome.wustl.edu	37	chr7	149482730	149482730	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggccagtggcctattcaCagtctctgcccagaacctgc	10	14	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:149482730C>G	ENST00000378016.2	+	0	3146							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTATTCACAGTCTCTGCC	0.622																																																	0								ENSG00000197558						21	26	24					7																	149482730		2087	4204	6291	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482730C>G		Somatic	0	29	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q76B61	RNA	SNP							-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.622	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C		-		149482730	1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	0.477	G	G	149482730	C	G	149482730	1	3	179	0	1	0	0	0	0	0	0	0	15196	478	17	4		4	SSPO	7	149482730	RNA	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	35963878	149482730	9655933	56	12569											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174540	150174540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctttggagcagactttaCgaaatacgcgattatgctgt	9	8	1	1	rs148200096	byFrequency	TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr7:150174540C>T	ENST00000307271.3	+	5	2244	c.1670C>T	c.(1669-1671)aCg>aTg	p.T557M		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	557	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.T557R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCAGACTTTACGAAATACGCG	0.498																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000171115						90	90	90					7																	150174540		2203	4300	6503	GIMAP8	SO:0001583	missense	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1670C>T	7.37:g.150174540C>T	ENSP00000305107:p.Thr557Met	Somatic	0	34	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58		Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.T557M	ENST00000307271.3	37	c.1670	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.485511	0.01027	.	.	ENSG00000171115	ENST00000307271	T	0.05199	3.48	4.44	0.229	0.15368	AIG1 (1);	1.090880	0.07111	N	0.842194	T	0.01287	0.0042	N	0.00337	-1.62	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46119	-0.9214	10	0.02654	T	1	.	2.8718	0.05619	0.2307:0.2112:0.0:0.5581	.	557	Q8ND71	GIMA8_HUMAN	M	557	ENSP00000305107:T557M	ENSP00000305107:T557M	T	+	2	0	GIMAP8	149805473	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.601000	0.05687	0.151000	0.19162	-0.294000	0.09567	ACG	-	pfam_AIG1,superfamily_P-loop_NTPase		0.498	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	C	NM_175571	-		150174540	1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	SNP	0.000	T	T	150174540	C	T	150174540	3	4	179	1	0	0	0	0	1	0	0	0	6387	536	19	1	1684	1	GIMAP8	7	150174540	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	691810	150174540	8964123	57	12570											
INTS10	55174	genome.wustl.edu	37	chr8	19694611	19694611	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctacatggtactccccAttcaagatggaggcaaatcc	9	11	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr8:19694611A>T	ENST00000397977.3	+	13	1977	c.1579A>T	c.(1579-1581)Att>Ttt	p.I527F		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	527					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGTACTCCCCATTCAAGATGG	0.373																																																	0								ENSG00000104613						118	114	115					8																	19694611		1865	4099	5964	INTS10	SO:0001583	missense	0			-	HGNC	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1579A>T	8.37:g.19694611A>T	ENSP00000381064:p.Ile527Phe	Somatic	0	29	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.00	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP							NULL	p.I527F	ENST00000397977.3	37	c.1579	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.557|8.557	0.876979|0.876979	0.17395|0.17395	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000518799|ENST00000397977	.|.	.|.	.|.	5.54|5.54	0.159|0.159	0.14968|0.14968	.|.	.|0.423268	.|0.28448	.|N	.|0.015304	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.08118|0.08118	0|0	0.33043|0.33043	D|D	0.531796|0.531796	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.04360|0.04360	-1.0957|-1.0957	5|9	.|0.37606	.|T	.|0.19	-4.0617|-4.0617	3.2721|3.2721	0.06886|0.06886	0.5089:0.0:0.2232:0.2679|0.5089:0.0:0.2232:0.2679	.|.	.|527	.|Q9NVR2	.|INT10_HUMAN	L|F	109|527	.|.	.|ENSP00000381064:I527F	H|I	+|+	2|1	0|0	INTS10|INTS10	19738891|19738891	0.980000|0.980000	0.34600|0.34600	0.990000|0.990000	0.47175|0.47175	0.957000|0.957000	0.61999|0.61999	2.248000|2.248000	0.43160|0.43160	0.076000|0.076000	0.16826|0.16826	0.533000|0.533000	0.62120|0.62120	CAT|ATT	-	NULL		0.373	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	protein_coding	OTTHUMT00000253724.2	A	NM_018142	-		19694611	1	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	SNP	0.991	T	T	19694611	A	T	19694611	3	4	179	1	0	0	0	0	1	0	0	0	7778	217	8	5	1629	5	INTS10	8	19694611	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09		19694611	126669411	58	12571											
SNTG1	54212	genome.wustl.edu	37	chr8	51465635	51465635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcctttcaagtcattgctGtggatggggtctgcactggg	14	8	3	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr8:51465635G>T	ENST00000522124.1	+	12	1367	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	SNTG1_ENST00000517473.1_Missense_Mutation_p.V236L|SNTG1_ENST00000518864.1_Missense_Mutation_p.V236L|SNTG1_ENST00000276467.5_Missense_Mutation_p.V236L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	236					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGTCATTGCTGTGGATGGGGT	0.428																																																	0								ENSG00000147481						145	124	131					8																	51465635		2203	4300	6503	SNTG1	SO:0001583	missense	0			-	HGNC	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.706G>T	8.37:g.51465635G>T	ENSP00000429842:p.Val236Leu	Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q2M3Q0|Q9NY98	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.V236L	ENST00000522124.1	37	c.706	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	6.537	0.467394	0.12402	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.053373	0.85682	D	0.000000	T	0.34774	0.0909	N	0.16790	0.44	0.80722	D	1	B;B	0.20550	0.005;0.046	B;B	0.14023	0.01;0.008	T	0.08722	-1.0708	10	0.35671	T	0.21	.	17.7901	0.88550	0.0:0.0:1.0:0.0	.	236;236	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	L	236	ENSP00000429276:V236L;ENSP00000429842:V236L;ENSP00000431123:V236L;ENSP00000276467:V236L	ENSP00000276467:V236L	V	+	1	0	SNTG1	51628188	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	6.970000	0.76099	2.437000	0.82529	0.558000	0.71614	GTG	-	smart_Pleckstrin_homology		0.428	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	G		-		51465635	1	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51465635	G	T	51465635	3	4	179	1	0	0	0	0	1	0	0	0	14882	1377	48	3	744	3	SNTG1	8	51465635	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	31771024	51465635	94898387	59	12572											
FER1L6	654463	genome.wustl.edu	37	chr8	124987395	124987395	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggtgctttcacaggtcatCagttctgcaacaagtgggcc	12	10	4	0	rs369182988		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr8:124987395C>T	ENST00000522917.1	+	8	738	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.Q178*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	178						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CACAGGTCATCAGTTCTGCAA	0.572																																																	0								ENSG00000214814	C	stop/GLN	1,4031		0,1,2015	89	87	88		532	5.5	1	8		88	0,8364		0,0,4182	no	stop-gained	FER1L6	NM_001039112.2		0,1,6197	TT,TC,CC		0.0,0.0248,0.0081		178/1858	124987395	1,12395	2016	4182	6198	FER1L6	SO:0001587	stop_gained	0			-	HGNC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.532C>T	8.37:g.124987395C>T	ENSP00000428280:p.Gln178*	Somatic	0	30	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81		Nonsense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.Q178*	ENST00000522917.1	37	c.532	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	40	8.337320	0.98767	2.48E-4	0.0	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.5	5.5	0.81552	.	0.083449	0.49305	U	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000381982:Q178X	Q	+	1	0	FER1L6	125056576	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.758000	0.94735	0.561000	0.74099	CAG	-	pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom		0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	C	NM_001039112	-		124987395	1	no_errors	ENST00000399018	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	124987395	C	T	124987395	4	4	179	1	0	0	0	0	0	1	0	0	5817	827	29	2	558	2	FER1L6	8	124987395	Nonsense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	73521760	124987395	21376627	60	12573											
GPT	2875	genome.wustl.edu	37	chr8	145730243	145730243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagcgcatcttgcaggcGtgtgggggccacagtctggg	19	10	2	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr8:145730243G>A	ENST00000528431.1	+	4	499	c.342G>A	c.(340-342)gcG>gcA	p.A114A	GPT_ENST00000394955.2_Silent_p.A114A			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	114					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TCTTGCAGGCGTGTGGGGGCC	0.627																																																	0								ENSG00000167701																																			GPT	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.342G>A	8.37:g.145730243G>A		Somatic	0	117	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	95	37	71.97	B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.A114	ENST00000528431.1	37	c.342	CCDS6430.1	8																																																																																			-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.627	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	protein_coding	OTTHUMT00000382471.1	G		-		145730243	1	no_errors	ENST00000394955	ensembl	human	known	74_37	silent	SNP	0.005	A	A	145730243	G	A	145730243	2	1	179	1	0	0	0	0	0	0	0	1	6739	1132	40	1		1	GPT	8	145730243	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	20742848	145730243	633779	61	12574											
ACO1	48	genome.wustl.edu	37	chr9	32407428	32407428	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcctgcaggactttacGtgagcctaatgtcacttcac	8	12	3	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr9:32407428G>A	ENST00000309951.6	+	3	404		c.e3+1		ACO1_ENST00000379923.1_Splice_Site|ACO1_ENST00000541043.1_Splice_Site	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.?(3)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGGACTTTACGTGAGCCTAAT	0.388																																																	3	Unknown(3)	lung(2)|ovary(1)						ENSG00000122729						113	85	95					9																	32407428		2203	4300	6503	ACO1	SO:0001630	splice_region_variant	0			-	HGNC	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.266+1G>A	9.37:g.32407428G>A		Somatic	0	23	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	D3DRK7|Q14652|Q5VZA7	Splice_Site	SNP							-	e2+1	ENST00000309951.6	37	c.266+1	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512926	0.85389	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1904	0.89805	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACO1	32397428	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.614000	0.98353	2.673000	0.90976	0.650000	0.86243	.	-	-		0.388	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	protein_coding	OTTHUMT00000051998.3	G	NM_002197	-	Intron	32407428	1	no_errors	ENST00000309951	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	32407428	G	A	32407428	5	1	179	1	0	0	0	0	0	0	1	0	146	1159	40	1	273	1	ACO1	9	32407428	Splice_Site	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		32407428	108806003	62	12575											
KCNT1	57582	genome.wustl.edu	37	chr9	138651572	138651572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcgagaacctgtcccTcctgacctccttctacttct	9	16	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr9:138651572T>C	ENST00000263604.3	+	11	845	c.845T>C	c.(844-846)cTc>cCc	p.L282P	KCNT1_ENST00000371757.2_Missense_Mutation_p.L301P|KCNT1_ENST00000486577.2_Missense_Mutation_p.L262P|KCNT1_ENST00000490355.2_Missense_Mutation_p.L282P|KCNT1_ENST00000491806.2_Missense_Mutation_p.L268P|KCNT1_ENST00000487664.1_Missense_Mutation_p.L256P|KCNT1_ENST00000488444.2_Missense_Mutation_p.L282P|KCNT1_ENST00000298480.5_Missense_Mutation_p.L301P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	282					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)		AACCTGTCCCTCCTGACCTCC	0.667																																																	0								ENSG00000107147						159	122	135					9																	138651572		2203	4300	6503	KCNT1	SO:0001583	missense	0			-	HGNC	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.845T>C	9.37:g.138651572T>C	ENSP00000263604:p.Leu282Pro	Somatic	0	27	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.L301P	ENST00000263604.3	37	c.902		9	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244096	0.79912	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.33438	1.76;1.76;1.76;1.41;1.76	5.05	5.05	0.67936	Ion transport 2 (1);	0.000000	0.64402	D	0.000005	T	0.56108	0.1963	M	0.77616	2.38	0.80722	D	1	D;D;D;P	0.63880	0.985;0.993;0.991;0.56	D;D;D;P	0.72075	0.956;0.976;0.967;0.593	T	0.62053	-0.6935	10	0.87932	D	0	-29.8082	13.9756	0.64271	0.0:0.0:0.0:1.0	.	268;301;256;282	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	P	256;301;301;248;262;268;282;282;282	ENSP00000417851:L256P;ENSP00000298480:L301P;ENSP00000360822:L301P;ENSP00000420764:L248P;ENSP00000263604:L282P	ENSP00000263604:L282P	L	+	2	0	KCNT1	137791393	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.747000	0.85070	1.907000	0.55213	0.482000	0.46254	CTC	-	pfam_2pore_dom_K_chnl_dom		0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	protein_coding		T	NM_020822	-		138651572	1	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	SNP	1.000	C	C	138651572	T	C	138651572	3	2	179	1	0	0	0	0	1	0	0	0	8093	1551	54	5	944	5	KCNT1	9	138651572	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	106244144	138651572	2561859	63	12576											
CACNA1B	774	genome.wustl.edu	37	chr9	140941368	140941368	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctcacaggctccgccgcttCtgccactacatcgtgaccat	7	18	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr9:140941368C>T	ENST00000371372.1	+	22	3571	c.3426C>T	c.(3424-3426)ttC>ttT	p.F1142F	CACNA1B_ENST00000545473.1_Silent_p.F168F|CACNA1B_ENST00000371363.1_Silent_p.F1142F|CACNA1B_ENST00000371355.4_Silent_p.F1143F|CACNA1B_ENST00000371357.1_Silent_p.F1143F|CACNA1B_ENST00000277549.5_Silent_p.F334F|CACNA1B_ENST00000277551.2_Silent_p.F1142F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1142					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)	TCCGCCGCTTCTGCCACTACA	0.657																																																	0								ENSG00000148408						54	57	56					9																	140941368		2129	4229	6358	CACNA1B	SO:0001819	synonymous_variant	0			-	HGNC	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.3426C>T	9.37:g.140941368C>T		Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	0	100.00	B1AQK5	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.F1143	ENST00000371372.1	37	c.3429	CCDS59522.1	9																																																																																			-	NULL		0.657	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	C	NM_000718	-		140941368	1	no_errors	ENST00000371355	ensembl	human	known	74_37	silent	SNP	0.980	T	T	140941368	C	T	140941368	2	4	179	1	0	0	0	0	0	0	0	1	2541	912	32	2		2	CACNA1B	9	140941368	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	2289796	140941368	272063	64	12577											
ZNF365	22891	genome.wustl.edu	37	chr10	64159366	64159366	+	Frame_Shift_Del	DEL	A	A	-													caaagggaaggaaccacctgAaaaaggccaaggatgacaga							TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr10:64159366delA	ENST00000395254.3	+	5	1322	c.1042delA	c.(1042-1044)aaafs	p.K349fs	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAACCACCTGAAAAAGGCCAA	0.567																																																	0								ENSG00000138311						140	137	138					10																	64159366		2203	4300	6503	ZNF365	SO:0001589	frameshift_variant	0				HGNC	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1042delA	10.37:g.64159366delA	ENSP00000378674:p.Lys349fs	Somatic	0	31	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00		Frame_Shift_Del	DEL							NULL	p.K349fs	ENST00000395254.3	37	c.1042	CCDS31209.1	10																																																																																			-	NULL		0.567	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	protein_coding	OTTHUMT00000048238.2	A	NM_014951			64159366	1	no_errors	ENST00000395254	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	64159366	A	-	64159366	7	5	179	1	0	1	0	1	0	0	0	0	17876	247	9	0	1056	0	ZNF365	10	64159366	Frame_Shift_Del	DEL	A	TCGA-LI-A9QH-01A-11D-A37C-09		64159366	71375381	65	12578											
DDX21	9188	genome.wustl.edu	37	chr10	70737433	70737433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagaccagcgctccttgatcAactcaaatgtggtaaggttc	9	10	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr10:70737433A>T	ENST00000354185.4	+	12	1989	c.1891A>T	c.(1891-1893)Aac>Tac	p.N631Y		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	631					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCTTGATCAACTCAAATGT	0.483																																																	0								ENSG00000165732						93	92	92					10																	70737433		2203	4300	6503	DDX21	SO:0001583	missense	0			-	HGNC	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1891A>T	10.37:g.70737433A>T	ENSP00000346120:p.Asn631Tyr	Somatic	0	31	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N631Y	ENST00000354185.4	37	c.1891	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744961	0.89663	.	.	ENSG00000165732	ENST00000354185	T	0.18016	2.24	5.61	5.61	0.85477	GUCT (1);	0.080581	0.85682	D	0.000000	T	0.37865	0.1019	M	0.75447	2.3	0.80722	D	1	D	0.56746	0.977	P	0.56398	0.797	T	0.21759	-1.0236	10	0.72032	D	0.01	-1.3352	16.1025	0.81194	1.0:0.0:0.0:0.0	.	631	Q9NR30	DDX21_HUMAN	Y	631	ENSP00000346120:N631Y	ENSP00000346120:N631Y	N	+	1	0	DDX21	70407439	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.664000	0.74437	2.254000	0.74563	0.533000	0.62120	AAC	-	pfam_GUCT		0.483	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	protein_coding	OTTHUMT00000048374.1	A	NM_004728	-		70737433	1	no_errors	ENST00000354185	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70737433	A	T	70737433	3	4	179	1	0	0	0	0	1	0	0	0	4351	130	5	5	1937	5	DDX21	10	70737433	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	6578067	70737433	64797314	66	12579											
CYP26A1	1592	genome.wustl.edu	37	chr10	94833762	94833762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctcttcctggctgCgatcaagctctgggacctgt	12	13	3	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr10:94833762C>T	ENST00000224356.4	+	1	116	c.71C>T	c.(70-72)gCg>gTg	p.A24V	CYP26A1_ENST00000394139.1_5'UTR|CYP26A1_ENST00000371531.1_Intron	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	24					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)	TTCCTGGCTGCGATCAAGCTC	0.697																																																	0								ENSG00000095596						23	26	25					10																	94833762		2202	4300	6502	CYP26A1	SO:0001583	missense	0			-	HGNC	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.71C>T	10.37:g.94833762C>T	ENSP00000224356:p.Ala24Val	Somatic	0	58	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.A24V	ENST00000224356.4	37	c.71	CCDS7426.1	10	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794915	0.50208	.	.	ENSG00000095596	ENST00000224356	T	0.72615	-0.67	4.94	4.94	0.65067	.	0.107611	0.64402	D	0.000007	T	0.47875	0.1469	N	0.08118	0	0.80722	D	1	B	0.21452	0.056	B	0.18561	0.022	T	0.44483	-0.9325	10	0.13853	T	0.58	-13.605	12.7455	0.57280	0.0:0.9215:0.0:0.0785	.	24	O43174	CP26A_HUMAN	V	24	ENSP00000224356:A24V	ENSP00000224356:A24V	A	+	2	0	CYP26A1	94823752	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.203000	0.77864	2.583000	0.87209	0.462000	0.41574	GCG	-	NULL		0.697	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	protein_coding	OTTHUMT00000049408.3	C		-		94833762	1	no_errors	ENST00000224356	ensembl	human	known	74_37	missense	SNP	0.993	T	T	94833762	C	T	94833762	3	4	179	1	0	0	0	0	1	0	0	0	4157	768	27	1	73	1	CYP26A1	10	94833762	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	24096329	94833762	40700985	67	12580											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98380174	98380174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactctttgaagtggagcaCagcctcatccacgttgacaa	8	13	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr10:98380174C>T	ENST00000339364.5	-	12	1995	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.V225M|RNA5SP324_ENST00000365177.1_RNA|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.V448M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	626					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AAGTGGAGCACAGCCTCATCC	0.498																																																	0								ENSG00000155629						129	121	124					10																	98380174		2203	4300	6503	PIK3AP1	SO:0001583	missense	0			-	HGNC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1876G>A	10.37:g.98380174C>T	ENSP00000339826:p.Val626Met	Somatic	0	25	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.V626M	ENST00000339364.5	37	c.1876	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720786	0.89205	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.51071	0.72;0.72;0.72	5.88	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	M	0.61703	1.905	0.80722	D	1	D;D	0.69078	0.992;0.997	P;P	0.62089	0.898;0.898	T	0.67055	-0.5767	10	0.62326	D	0.03	-22.0998	15.2752	0.73737	0.1412:0.8588:0.0:0.0	.	626;225	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	M	626;448;225	ENSP00000339826:V626M;ENSP00000360151:V448M;ENSP00000360150:V225M	ENSP00000339826:V626M	V	-	1	0	PIK3AP1	98370164	1.000000	0.71417	0.912000	0.35992	0.992000	0.81027	7.752000	0.85141	1.451000	0.47736	0.555000	0.69702	GTG	-	NULL		0.498	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	protein_coding	OTTHUMT00000049619.2	C	NM_152309	-		98380174	-1	no_errors	ENST00000339364	ensembl	human	known	74_37	missense	SNP	0.999	T	T	98380174	C	T	98380174	3	4	179	1	0	0	0	0	1	0	0	0	11910	478	17	2	565	2	PIK3AP1	10	98380174	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	3546412	98380174	37154573	68	12581											
PRLHR	2834	genome.wustl.edu	37	chr10	120353729	120353729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtttgcgcagctcctcgCggaagctgtcgtgcagccag	13	13	0	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr10:120353729C>T	ENST00000369169.1	-	1	1027	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	PRLHR_ENST00000239032.2_Missense_Mutation_p.R343H			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	343					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CAGCTCCTCGCGGAAGCTGTC	0.612																																																	0								ENSG00000119973						52	50	51					10																	120353729		2203	4300	6503	PRLHR	SO:0001583	missense	0			-	HGNC	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.1028G>A	10.37:g.120353729C>T	ENSP00000358167:p.Arg343His	Somatic	0	27	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	8	66.67	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R343H	ENST00000369169.1	37	c.1028	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442595	0.83993	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.70749	-0.51;-0.51	4.53	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	L	0.61218	1.895	0.48696	D	0.999693	D	0.89917	1.0	D	0.80764	0.994	T	0.82420	-0.0466	10	0.72032	D	0.01	.	13.0823	0.59121	0.0:0.9087:0.0:0.0913	.	343	P49683	PRLHR_HUMAN	H	343	ENSP00000239032:R343H;ENSP00000358167:R343H	ENSP00000239032:R343H	R	-	2	0	PRLHR	120343719	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	5.884000	0.69729	2.337000	0.79520	0.561000	0.74099	CGC	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.612	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	protein_coding	OTTHUMT00000050610.1	C	NM_004248	-		120353729	-1	no_errors	ENST00000239032	ensembl	human	known	74_37	missense	SNP	0.994	T	T	120353729	C	T	120353729	3	4	179	1	0	0	0	0	1	0	0	0	12535	768	27	1	88	1	PRLHR	10	120353729	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	21973555	120353729	15181018	69	12582											
TCERG1L	256536	genome.wustl.edu	37	chr10	132944799	132944799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcttgcgtttgtgggGcgggtcctcaatgatcctgt	13	11	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr10:132944799G>A	ENST00000368642.4	-	7	1244	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	387										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)		CGTTTGTGGGGCGGGTCCTCA	0.502																																																	0								ENSG00000176769						110	104	106					10																	132944799		2203	4300	6503	TCERG1L	SO:0001583	missense	0			-	HGNC	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.1159C>T	10.37:g.132944799G>A	ENSP00000357631:p.Pro387Ser	Somatic	0	39	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	15	58.33	Q5VWI2|Q86XM8	Missense_Mutation	SNP							pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.P387S	ENST00000368642.4	37	c.1159	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489014	0.84962	.	.	ENSG00000176769	ENST00000368642	T	0.27557	1.66	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.57946	0.2088	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.63712	-0.6575	10	0.72032	D	0.01	-8.1756	17.2993	0.87177	0.0:0.0:1.0:0.0	.	387	Q5VWI1	TCRGL_HUMAN	S	387	ENSP00000357631:P387S	ENSP00000357631:P387S	P	-	1	0	TCERG1L	132834789	1.000000	0.71417	0.934000	0.37439	0.841000	0.47740	9.117000	0.94347	2.392000	0.81423	0.467000	0.42956	CCC	-	NULL		0.502	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	protein_coding	OTTHUMT00000091619.2	G	NM_174937	-		132944799	-1	no_errors	ENST00000368642	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132944799	G	A	132944799	3	1	179	1	0	0	0	0	1	0	0	0	15693	1203	42	2	625	2	TCERG1L	10	132944799	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	12591070	132944799	2589948	70	12583											
OR51I2	390064	genome.wustl.edu	37	chr11	5475397	5475397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcattctgcgttctgtcatgGccactgcttcccgtgaggaa	10	12	4	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:5475397G>C	ENST00000341449.2	+	1	760	c.679G>C	c.(679-681)Gcc>Ccc	p.A227P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	227					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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGTCATGGCCACTGCTTC	0.463																																																	0								ENSG00000187918						322	273	290					11																	5475397		2201	4297	6498	OR51I2	SO:0001583	missense	0			-	HGNC	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.679G>C	11.37:g.5475397G>C	ENSP00000341987:p.Ala227Pro	Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	Q6IF81	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A227P	ENST00000341449.2	37	c.679	CCDS31383.1	11	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890368	0.33348	.	.	ENSG00000187918	ENST00000341449	T	0.00123	8.7	5.58	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.553738	0.17868	N	0.159296	T	0.00356	0.0011	M	0.88775	2.98	0.25715	N	0.985433	D	0.55385	0.971	P	0.55785	0.784	T	0.40608	-0.9554	10	0.54805	T	0.06	.	5.3082	0.15815	0.29:0.0:0.5764:0.1336	.	227	Q9H344	O51I2_HUMAN	P	227	ENSP00000341987:A227P	ENSP00000341987:A227P	A	+	1	0	OR51I2	5431973	0.000000	0.05858	0.797000	0.32132	0.012000	0.07955	0.021000	0.13489	0.162000	0.19483	-0.140000	0.14226	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.463	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I2	protein_coding	OTTHUMT00000143385.1	G	NM_001004754	-		5475397	1	no_errors	ENST00000341449	ensembl	human	known	74_37	missense	SNP	0.675	C	C	5475397	G	C	5475397	3	2	179	1	0	0	0	0	1	0	0	0	11103	1203	42	4	681	4	OR51I2	11	5475397	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		5475397	129531119	71	12584											
HTATIP2	10553	genome.wustl.edu	37	chr11	20403784	20403784	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttactctgtatttaggcctGggtaagtataatatttatac	8	5	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:20403784G>T	ENST00000451739.2	+	4	943	c.502G>T	c.(502-504)Gga>Tga	p.G168*	HTATIP2_ENST00000419348.2_Splice_Site_p.G202*|HTATIP2_ENST00000531058.1_Splice_Site_p.G122*|HTATIP2_ENST00000443524.2_Splice_Site_p.G168*|HTATIP2_ENST00000421577.2_Splice_Site_p.G168*	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATTTAGGCCTGGGTAAGTATA	0.338																																																	0								ENSG00000109854						102	115	111					11																	20403784		2202	4300	6502	HTATIP2	SO:0001630	splice_region_variant	0			-	HGNC	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.503+1G>T	11.37:g.20403784G>T		Somatic	0	51	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Nonsense_Mutation	SNP							pfam_Semialdehyde_DH_NAD-bd	p.G202*	ENST00000451739.2	37	c.604	CCDS7852.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.460552	0.96240	.	.	ENSG00000109854	ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000531058	.	.	.	5.62	5.62	0.85841	.	0.150598	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.2099	17.5131	0.87765	0.0:0.0:1.0:0.0	.	.	.	.	X	168;168;202;168;122	.	ENSP00000392985:G202X	G	+	1	0	HTATIP2	20360360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.582000	0.74049	2.809000	0.96659	0.655000	0.94253	GGA	-	NULL		0.338	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	protein_coding	OTTHUMT00000387445.2	G	NM_001098521	-	Nonsense_Mutation	20403784	1	no_errors	ENST00000419348	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	20403784	G	T	20403784	5	4	179	1	0	0	0	0	0	0	1	0	7434	1362	47	3	721	3	HTATIP2	11	20403784	Splice_Site	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	14928387	20403784	114602732	72	12585											
AMBRA1	55626	genome.wustl.edu	37	chr11	46439590	46439590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcatgggataaaggaCgttgaaaactctctaggtag	14	6	1	1	rs370651158		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:46439590C>T	ENST00000458649.2	-	15	3407	c.2989G>A	c.(2989-2991)Gtc>Atc	p.V997I	AMBRA1_ENST00000534300.1_Missense_Mutation_p.V937I|AMBRA1_ENST00000533727.1_Missense_Mutation_p.V878I|AMBRA1_ENST00000314845.3_Missense_Mutation_p.V907I|AMBRA1_ENST00000426438.1_Missense_Mutation_p.V968I|AMBRA1_ENST00000528950.1_Missense_Mutation_p.V968I|AMBRA1_ENST00000298834.3_Missense_Mutation_p.V937I			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	997					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGATAAAGGACGTTGAAAACT	0.458																																																	0								ENSG00000110497	C	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	61	61	61		2719	5.8	1	11		61	0,8598		0,0,4299	no	missense	AMBRA1	NM_017749.2	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	907/1209	46439590	1,12999	2201	4299	6500	AMBRA1	SO:0001583	missense	0			-	HGNC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2989G>A	11.37:g.46439590C>T	ENSP00000415327:p.Val997Ile	Somatic	0	45	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V997I	ENST00000458649.2	37	c.2989		11	.	.	.	.	.	.	.	.	.	.	C	32	5.150670	0.94645	2.27E-4	0.0	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.72167	-0.54;-0.63;-0.22;-0.35;-0.22;-0.38;-0.35	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	N	0.24115	0.695	0.58432	D	0.999996	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.78314	0.972;0.991;0.991;0.987;0.987;0.987	T	0.75725	-0.3217	10	0.39692	T	0.17	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	997;968;937;878;1000;907	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	I	907;878;937;968;937;997;968	ENSP00000318313:V907I;ENSP00000433372:V878I;ENSP00000431926:V937I;ENSP00000410899:V968I;ENSP00000298834:V937I;ENSP00000415327:V997I;ENSP00000433945:V968I	ENSP00000298834:V937I	V	-	1	0	AMBRA1	46396166	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.786000	0.85741	2.712000	0.92718	0.591000	0.81541	GTC	-	NULL		0.458	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	protein_coding	OTTHUMT00000390103.1	C	NM_017749	-		46439590	-1	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46439590	C	T	46439590	3	4	179	1	0	0	0	0	1	0	0	0	565	536	19	1	923	1	AMBRA1	11	46439590	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	26035806	46439590	88566926	73	12586											
PLCB3	5331	genome.wustl.edu	37	chr11	64033670	64033670	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaggctgaaagagatgaacGagaggtgaaagccgaggatt	16	4	0	6	rs367729670		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:64033670G>T	ENST00000540288.1	+	27	3365	c.3262G>T	c.(3262-3264)Gag>Tag	p.E1088*	PLCB3_ENST00000325234.5_Nonsense_Mutation_p.E1021*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.E1088*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1088					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAGATGAACGAGAGGTGAAA	0.562																																																	0								ENSG00000149782						106	110	108					11																	64033670		2201	4297	6498	PLCB3	SO:0001587	stop_gained	0			-	HGNC	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3262G>T	11.37:g.64033670G>T	ENSP00000443631:p.Glu1088*	Somatic	0	22	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E1088*	ENST00000540288.1	37	c.3262	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.695789	0.97768	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	5.04	4.13	0.48395	.	2.247720	0.02285	N	0.069756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.7541	0.46225	0.0909:0.0:0.9091:0.0	.	.	.	.	X	1088;1088;1021	.	ENSP00000279230:E1088X	E	+	1	0	PLCB3	63790246	1.000000	0.71417	0.386000	0.26170	0.317000	0.28152	6.522000	0.73783	1.135000	0.42183	0.455000	0.32223	GAG	-	pirsf_PLC-beta,pfam_PLC-beta_C		0.562	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	protein_coding	OTTHUMT00000396405.1	G		-		64033670	1	no_errors	ENST00000279230	ensembl	human	known	74_37	nonsense	SNP	0.995	T	T	64033670	G	T	64033670	4	4	179	1	0	0	0	0	0	1	0	0	12031	1059	37	3	3368	3	PLCB3	11	64033670	Nonsense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	17594080	64033670	70972846	74	12587											
LRTOMT	55004	genome.wustl.edu	37	chr11	71817014	71817014	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatgtcccctgccattgCattggccttcctgccactgg	9	16	0	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:71817014C>T	ENST00000278671.5	-	0	0				LAMTOR1_ENST00000535107.1_5'Flank|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000435085.1_Missense_Mutation_p.A39V|LAMTOR1_ENST00000545249.1_5'Flank|LRTOMT_ENST00000307198.7_Missense_Mutation_p.A39V|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000439209.1_Intron|snoU13_ENST00000459046.1_RNA	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CCTGCCATTGCATTGGCCTTC	0.587																																																	0								ENSG00000184154						55	55	55					11																	71817014		692	1591	2283	LRTOMT	SO:0001631	upstream_gene_variant	0			-	HGNC	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817014C>T	Exception_encountered	Somatic	0	43	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	Q8WZ09|Q9NWT0	Missense_Mutation	SNP							pfam_O-MeTrfase_3	p.A39V	ENST00000278671.5	37	c.116	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715174	0.89112	.	.	ENSG00000184154	ENST00000435085;ENST00000307198	D;D	0.91237	-2.81;-2.81	4.27	4.27	0.50696	.	.	.	.	.	D	0.91379	0.7280	N	0.24115	0.695	0.41583	D	0.988752	D	0.89917	1.0	D	0.80764	0.994	D	0.91641	0.5327	9	0.41790	T	0.15	-4.7738	16.8442	0.85976	0.0:1.0:0.0:0.0	.	39	Q8WZ04	TOMT_HUMAN	V	39	ENSP00000409789:A39V;ENSP00000305742:A39V	ENSP00000409789:A39V	A	+	2	0	LRTOMT	71494662	1.000000	0.71417	0.973000	0.42090	0.787000	0.44495	5.026000	0.64103	2.372000	0.80975	0.462000	0.41574	GCA	-	NULL		0.587	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTOMT	protein_coding	OTTHUMT00000396733.1	C	NM_017907	-		71817014	1	no_errors	ENST00000307198	ensembl	human	known	74_37	missense	SNP	0.998	T	T	71817014	C	T	71817014	1	4	179	0	1	0	0	0	0	0	0	0	9048	710	25	2		2	LRTOMT	11	71817014	5'Flank	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	7783344	71817014	63189502	75	12588											
LRTOMT	55004	genome.wustl.edu	37	chr11	71817090	71817090	+	5'Flank	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgattgctggtgcgcacggtCttgctgcgaagcctccgaga	14	12	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:71817090C>G	ENST00000278671.5	-	0	0				LAMTOR1_ENST00000535107.1_5'Flank|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000435085.1_Silent_p.V64V|LAMTOR1_ENST00000545249.1_5'Flank|LRTOMT_ENST00000307198.7_Silent_p.V64V|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000439209.1_Intron|snoU13_ENST00000459046.1_RNA	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						TGCGCACGGTCTTGCTGCGAA	0.627																																																	0								ENSG00000184154						55	51	52					11																	71817090		692	1591	2283	LRTOMT	SO:0001631	upstream_gene_variant	0			-	HGNC	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817090C>G	Exception_encountered	Somatic	0	27	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	Q8WZ09|Q9NWT0	Missense_Mutation	SNP							NULL	p.L199V	ENST00000278671.5	37	c.595	CCDS8209.1	11																																																																																			-	NULL		0.627	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTOMT	protein_coding	OTTHUMT00000396733.1	C	NM_017907	-		71817090	1	no_errors	ENST00000427369	ensembl	human	known	74_37	missense	SNP	1.000	G	G	71817090	C	G	71817090	1	3	179	0	1	0	0	0	0	0	0	0	9048	900	32	4		4	LRTOMT	11	71817090	5'Flank	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	76	71817090	63189426	76	12589											
CASP5	838	genome.wustl.edu	37	chr11	104878040	104878041	+	Frame_Shift_Ins	INS	-	-	T													gtattccaacatcttaactgINSttttttttttgtggttgtct					rs112680102|rs144697764		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:104878040_104878041insT	ENST00000260315.3	-	3	201_202	c.202_203insA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T10fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Ins_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Ins_p.T81fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATCTTAACTGTTTTTTTTTTG	0.356																																																	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000137757																																			CASP5	SO:0001589	frameshift_variant	0				HGNC		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.203dupA	11.37:g.104878050_104878050dupT	ENSP00000260315:p.Thr68fs	Somatic	0	23	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS							pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.242_241	CCDS8328.2	11																																																																																			-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.356	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	protein_coding	OTTHUMT00000109397.2	-	NM_004347			104878041	-1	no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	T	T	104878041	-	T	104878040	7	5	179	1	0	1	1	0	0	0	0	0	2676	1377	48	0	1129	0	CASP5	11	104878040	Frame_Shift_Ins	INS	-	TCGA-LI-A9QH-01A-11D-A37C-09	33060950	104878040	30128476	77	12590											
ATM	472	genome.wustl.edu	37	chr11	108164194	108164194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atacagtagaggacccttttCactcttggaggtaataaaaa	8	7	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:108164194C>T	ENST00000452508.2	+	32	4955	c.4766C>T	c.(4765-4767)tCa>tTa	p.S1589L	ATM_ENST00000278616.4_Missense_Mutation_p.S1589L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1589					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGACCCTTTTCACTCTTGGAG	0.303			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						85	97	93					11																	108164194		2200	4293	6493	ATM	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4766C>T	11.37:g.108164194C>T	ENSP00000388058:p.Ser1589Leu	Somatic	0	27	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	20	79.17	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1589L	ENST00000452508.2	37	c.4766	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610329	0.66558	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.72051	-0.62;-0.62	5.31	4.4	0.53042	Armadillo-type fold (1);	0.231260	0.45126	N	0.000394	T	0.68091	0.2963	M	0.63428	1.95	0.37750	D	0.925958	B	0.30021	0.265	B	0.31245	0.126	T	0.70178	-0.4943	10	0.39692	T	0.17	.	14.001	0.64433	0.0:0.9268:0.0:0.0732	.	1589	Q13315	ATM_HUMAN	L	1589	ENSP00000278616:S1589L;ENSP00000388058:S1589L	ENSP00000278616:S1589L	S	+	2	0	ATM	107669404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.937000	0.56575	1.367000	0.46095	0.655000	0.94253	TCA	-	superfamily_ARM-type_fold		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	C	NM_000051	-		108164194	1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108164194	C	T	108164194	3	4	179	1	0	0	0	0	1	0	0	0	1109	838	29	2	4884	2	ATM	11	108164194	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	3286154	108164194	26842322	78	12591											
C1QTNF5	114902	genome.wustl.edu	37	chr11	119210232	119210232	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgggccaccccccgaaaaActggaagaaagaggcaatgg	12	11	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr11:119210232A>T	ENST00000528368.1	-	3	772	c.541T>A	c.(541-543)Ttt>Att	p.F181I	C1QTNF5_ENST00000445041.2_Missense_Mutation_p.F181I|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	181	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCCCCGAAAAACTGGAAGAAA	0.617																																																	0								ENSG00000223953						66	60	62					11																	119210232		2199	4295	6494	C1QTNF5	SO:0001583	missense	0			-	HGNC	AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"complement-c1q tumor necrosis factor-related protein 5", "complement C1q tumor necrosis factor-related protein 5 precursor variant 3"	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.541T>A	11.37:g.119210232A>T	ENSP00000431140:p.Phe181Ile	Somatic	0	53	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Missense_Mutation	SNP							pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.F181I	ENST00000528368.1	37	c.541	CCDS8420.1	11	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118101	0.37339	.	.	ENSG00000223953	ENST00000528368;ENST00000445041	T;T	0.74632	-0.86;-0.86	4.24	4.24	0.50183	.	0.297259	0.31279	U	0.007929	T	0.59018	0.2163	N	0.15975	0.35	0.80722	D	1	.	.	.	.	.	.	T	0.55147	-0.8186	8	0.22706	T	0.39	.	8.2761	0.31873	0.9109:0.0:0.0891:0.0	.	.	.	.	I	181	ENSP00000431140:F181I;ENSP00000402389:F181I	ENSP00000402389:F181I	F	-	1	0	C1QTNF5	118715442	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.580000	0.60942	1.773000	0.52216	0.533000	0.62120	TTT	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.617	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF5	protein_coding	OTTHUMT00000388354.1	A	NM_015645	-		119210232	-1	no_errors	ENST00000445041	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119210232	A	T	119210232	3	4	179	1	0	0	0	0	1	0	0	0	1968	43	2	5	194	5	C1QTNF5	11	119210232	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	11046038	119210232	15796284	79	12592											
KDM5A	5927	genome.wustl.edu	37	chr12	432285	432285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagacaatgcttctgtAacacgactgacccaagtgtc	8	11	1	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr12:432285A>G	ENST00000399788.2	-	16	2600	c.2238T>C	c.(2236-2238)gtT>gtC	p.V746V	KDM5A_ENST00000382815.4_Silent_p.V746V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	746					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGCTTCTGTAACACGACTGA	0.373			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0								ENSG00000073614						104	100	101					12																	432285		1878	4102	5980	KDM5A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2238T>C	12.37:g.432285A>G		Somatic	0	41	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A8MV76|Q4LE72|Q86XZ1	Silent	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.V746	ENST00000399788.2	37	c.2238	CCDS41736.1	12																																																																																			-	pfam_Lys_sp_deMease_like_dom		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	protein_coding	OTTHUMT00000397812.1	A	NM_005056	-		432285	-1	no_errors	ENST00000399788	ensembl	human	known	74_37	silent	SNP	0.976	G	G	432285	A	G	432285	2	3	179	1	0	0	0	0	0	0	0	1	8135	349	13	5		5	KDM5A	12	432285	Silent	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09		432285	133419610	80	12593											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43925909	43925909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtatataagatgtggCttgttgtgaccatcttcata	9	6	3	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr12:43925909C>T	ENST00000389420.3	-	3	542	c.543G>A	c.(541-543)aaG>aaA	p.K181K	ADAMTS20_ENST00000553158.1_Silent_p.K181K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	181					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAGATGTGGCTTGTTGTGAC	0.358																																																	0								ENSG00000173157						138	133	135					12																	43925909		2203	4300	6503	ADAMTS20	SO:0001819	synonymous_variant	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.543G>A	12.37:g.43925909C>T		Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	A6NNC9|J3QT00	Silent	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K181	ENST00000389420.3	37	c.543	CCDS31778.2	12																																																																																			-	pfam_Peptidase_M12B_N		0.358	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43925909	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43925909	C	T	43925909	2	4	179	1	0	0	0	0	0	0	0	1	266	796	28	2		2	ADAMTS20	12	43925909	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	43493624	43925909	89925986	81	12594											
TXNRD1	7296	genome.wustl.edu	37	chr12	104720164	104720164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcttgcacaagaaaaAttggcttagaaaccgtaggg	12	6	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr12:104720164A>T	ENST00000529546.1	+	9	1009	c.784A>T	c.(784-786)Att>Ttt	p.I262F	TXNRD1_ENST00000540716.1_Missense_Mutation_p.I262F|TXNRD1_ENST00000354940.6_Missense_Mutation_p.I300F|TXNRD1_ENST00000525566.1_Missense_Mutation_p.I450F|TXNRD1_ENST00000524698.1_Missense_Mutation_p.I300F|TXNRD1_ENST00000378070.4_Missense_Mutation_p.I399F|TXNRD1_ENST00000388854.3_Missense_Mutation_p.I352F|TXNRD1_ENST00000542918.1_Missense_Mutation_p.I350F|TXNRD1_ENST00000503506.2_Missense_Mutation_p.I300F|TXNRD1_ENST00000429002.2_Missense_Mutation_p.I450F|TXNRD1_ENST00000526691.1_Missense_Mutation_p.I352F|TXNRD1_ENST00000397736.2_Missense_Mutation_p.I344F|TXNRD1_ENST00000526390.1_Missense_Mutation_p.I344F|TXNRD1_ENST00000427956.1_Missense_Mutation_p.I415F|TXNRD1_ENST00000526950.1_Missense_Mutation_p.I369F			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	450					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CACAAGAAAAATTGGCTTAGA	0.274																																					Ovarian(139;555 1836 9186 9946 10884)												0								ENSG00000198431						33	34	34					12																	104720164		1797	4057	5854	TXNRD1	SO:0001583	missense	0			-	HGNC		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.784A>T	12.37:g.104720164A>T	ENSP00000434919:p.Ile262Phe	Somatic	0	63	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	67	39.09	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.I450F	ENST00000529546.1	37	c.1348	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456516	0.84317	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000529751;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;0.88;0.94;0.88;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.93	3.49	0.39957	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.090690	0.85682	D	0.000000	T	0.80237	0.4586	M	0.83953	2.67	0.58432	D	0.999992	D;B;D;P;P;D;P	0.59767	0.962;0.241;0.986;0.907;0.73;0.972;0.476	P;B;P;P;P;P;B	0.62184	0.782;0.284;0.899;0.576;0.702;0.854;0.41	T	0.81697	-0.0815	10	0.72032	D	0.01	-18.5887	12.9921	0.58625	0.7458:0.2542:0.0:0.0	.	350;344;450;352;300;450;415	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	F	450;450;300;352;352;300;344;262;13;262;300;350;399;344;415;369	ENSP00000434516:I450F;ENSP00000412045:I450F;ENSP00000421934:I300F;ENSP00000435929:I352F;ENSP00000373506:I352F;ENSP00000347020:I300F;ENSP00000435123:I344F;ENSP00000434919:I262F;ENSP00000432273:I13F;ENSP00000442709:I262F;ENSP00000433425:I300F;ENSP00000440978:I350F;ENSP00000367310:I399F;ENSP00000380844:I344F;ENSP00000393328:I415F;ENSP00000432812:I369F	ENSP00000347020:I300F	I	+	1	0	TXNRD1	103244294	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.975000	0.49281	0.455000	0.26910	0.514000	0.50259	ATT	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase		0.274	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	protein_coding	OTTHUMT00000389969.1	A	NM_003330	-		104720164	1	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104720164	A	T	104720164	3	4	179	1	0	0	0	0	1	0	0	0	16814	101	4	5	1408	5	TXNRD1	12	104720164	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	60794255	104720164	29131731	82	12595											
CCNA1	8900	genome.wustl.edu	37	chr13	37011865	37011865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtccaagagccccccaagCaagggtttgacatctacatg	11	12	1	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr13:37011865C>A	ENST00000255465.4	+	3	661	c.397C>A	c.(397-399)Caa>Aaa	p.Q133K	CCNA1_ENST00000418263.1_Missense_Mutation_p.Q132K|CCNA1_ENST00000440264.1_Missense_Mutation_p.Q89K|CCNA1_ENST00000449823.1_Missense_Mutation_p.Q89K			P78396	CCNA1_HUMAN	cyclin A1	133					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCCCCCCAAGCAAGGGTTTGA	0.517																																																	0								ENSG00000133101						82	88	86					13																	37011865		2203	4300	6503	CCNA1	SO:0001583	missense	0			-	HGNC	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.397C>A	13.37:g.37011865C>A	ENSP00000255465:p.Gln133Lys	Somatic	0	26	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP							pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Q133K	ENST00000255465.4	37	c.397	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352761	0.24512	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15372	2.47;2.47;2.43;2.43	5.76	5.76	0.90799	.	0.757322	0.12090	N	0.500548	T	0.23806	0.0576	L	0.56769	1.78	0.33236	D	0.556554	B;B	0.23128	0.08;0.048	B;B	0.19946	0.027;0.012	T	0.20505	-1.0273	9	.	.	.	.	19.9731	0.97292	0.0:1.0:0.0:0.0	.	132;133	P78396-2;P78396	.;CCNA1_HUMAN	K	89;89;132;133	ENSP00000400666:Q89K;ENSP00000409873:Q89K;ENSP00000396479:Q132K;ENSP00000255465:Q133K	.	Q	+	1	0	CCNA1	35909865	1.000000	0.71417	0.839000	0.33178	0.169000	0.22640	5.033000	0.64146	2.715000	0.92844	0.563000	0.77884	CAA	-	pirsf_Cyclin_A/B/D/E		0.517	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	protein_coding	OTTHUMT00000044514.2	C	NM_003914	-		37011865	1	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	SNP	0.989	A	A	37011865	C	A	37011865	3	1	179	1	0	0	0	0	1	0	0	0	2911	711	25	3	407	3	CCNA1	13	37011865	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09		37011865	78158013	83	12596											
KLHL1	57626	genome.wustl.edu	37	chr13	70456450	70456450	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggcagtcttataaaggcaaGaagcatgctcaggtcattgc	11	8	3	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr13:70456450G>C	ENST00000377844.4	-	5	1951	c.1192C>G	c.(1192-1194)Ctt>Gtt	p.L398V	KLHL1_ENST00000545028.1_Missense_Mutation_p.L205V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	398					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATAAAGGCAAGAAGCATGCTC	0.393																																																	0								ENSG00000150361						169	139	149					13																	70456450		2203	4300	6503	KLHL1	SO:0001583	missense	0			-	HGNC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1192C>G	13.37:g.70456450G>C	ENSP00000367075:p.Leu398Val	Somatic	0	28	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L398V	ENST00000377844.4	37	c.1192	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664219	0.67700	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77098	-1.07;-1.07	4.89	4.89	0.63831	BTB/Kelch-associated (2);	0.000000	0.56097	D	0.000031	D	0.90638	0.7064	M	0.91920	3.255	0.45747	D	0.998648	D;D	0.76494	0.999;0.999	D;D	0.78314	0.986;0.991	D	0.92851	0.6297	10	0.87932	D	0	.	18.403	0.90523	0.0:0.0:1.0:0.0	.	398;398	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	398;205	ENSP00000367075:L398V;ENSP00000439602:L205V	ENSP00000367075:L398V	L	-	1	0	KLHL1	69354451	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	7.930000	0.87610	2.406000	0.81754	0.591000	0.81541	CTT	-	pfam_BACK,smart_BACK		0.393	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	protein_coding	OTTHUMT00000045231.3	G	NM_020866	-		70456450	-1	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	SNP	1.000	C	C	70456450	G	C	70456450	3	2	179	1	0	0	0	0	1	0	0	0	8367	942	33	4	1082	4	KLHL1	13	70456450	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	33444585	70456450	44713428	84	12597											
DAOA	267012	genome.wustl.edu	37	chr13	106119431	106119431	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacattgggtaaaatctactTcataggttttcaaaggagca	8	6	3	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr13:106119431T>A	ENST00000375936.3	+	2	120	c.74T>A	c.(73-75)tTc>tAc	p.F25Y	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	25					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)			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)					AAAATCTACTTCATAGGTTTT	0.303																																																	0								ENSG00000182346						77	75	75					13																	106119431		1791	4061	5852	DAOA	SO:0001583	missense	0			-	HGNC	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.74T>A	13.37:g.106119431T>A	ENSP00000365103:p.Phe25Tyr	Somatic	0	23	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP							NULL	p.F25Y	ENST00000375936.3	37	c.74	CCDS41905.1	13	.	.	.	.	.	.	.	.	.	.	T	13.94	2.388156	0.42308	.	.	ENSG00000182346	ENST00000375936	T	0.28666	1.6	3.06	1.88	0.25563	.	.	.	.	.	T	0.32194	0.0821	N	0.19112	0.55	0.09310	N	0.999997	D	0.76494	0.999	D	0.63703	0.917	T	0.09443	-1.0674	9	0.87932	D	0	.	4.9067	0.13802	0.0:0.1429:0.0:0.8571	.	25	P59103	DAOA_HUMAN	Y	25	ENSP00000365103:F25Y	ENSP00000365103:F25Y	F	+	2	0	DAOA	104917432	0.002000	0.14202	0.006000	0.13384	0.577000	0.36160	0.472000	0.22116	0.577000	0.29470	0.528000	0.53228	TTC	-	NULL		0.303	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	protein_coding	OTTHUMT00000099040.2	T	NM_172370	-		106119431	1	no_errors	ENST00000375936	ensembl	human	known	74_37	missense	SNP	0.007	A	A	106119431	T	A	106119431	3	1	179	1	0	0	0	0	1	0	0	0	4234	1783	62	5	80	5	DAOA	13	106119431	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	35662981	106119431	9050447	85	12598											
MYO16	23026	genome.wustl.edu	37	chr13	109858995	109858995	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcagagaatgaaagtgtGgccctgcaggaactcttgga	12	9	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr13:109858995G>T	ENST00000357550.2	+	34	5429	c.5388G>T	c.(5386-5388)gtG>gtT	p.V1796V	MYO16_ENST00000356711.2_Silent_p.V1796V	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)			ATGAAAGTGTGGCCCTGCAGG	0.532																																																	0								ENSG00000041515						82	78	79					13																	109858995		2203	4300	6503	MYO16	SO:0001819	synonymous_variant	0			-	HGNC		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.5388G>T	13.37:g.109858995G>T		Somatic	0	24	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	17	58.54		Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1796	ENST00000357550.2	37	c.5388	CCDS32008.1	13																																																																																			-	NULL		0.532	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011	-		109858995	1	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	SNP	0.979	T	T	109858995	G	T	109858995	2	4	179	1	0	0	0	0	0	0	0	1	10066	1335	47	3		3	MYO16	13	109858995	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	3739564	109858995	5310883	86	12599											
COL4A1	1282	genome.wustl.edu	37	chr13	110839583	110839583	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaaagcctgggtctcCtttgtcacctttgagccgca	10	13	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr13:110839583C>A	ENST00000375820.4	-	25	1751	c.1630G>T	c.(1630-1632)Gga>Tga	p.G544*		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	544	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGGTCTCCTTTGTCACCT	0.612																																																	0								ENSG00000187498						68	70	69					13																	110839583		2203	4300	6503	COL4A1	SO:0001587	stop_gained	0			-	HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1630G>T	13.37:g.110839583C>A	ENSP00000364979:p.Gly544*	Somatic	0	23	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G544*	ENST00000375820.4	37	c.1630	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.400451	0.98794	.	.	ENSG00000187498	ENST00000375820	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9388	0.89021	0.0:1.0:0.0:0.0	.	.	.	.	X	544	.	ENSP00000364979:G544X	G	-	1	0	COL4A1	109637584	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.119000	0.77145	2.308000	0.77769	0.563000	0.77884	GGA	-	pfam_Collagen		0.612	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	C		-		110839583	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	110839583	C	A	110839583	4	1	179	1	0	0	0	0	0	1	0	0	3691	690	24	3	3491	3	COL4A1	13	110839583	Nonsense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	980588	110839583	4330295	87	12600											
OR11G2	390439	genome.wustl.edu	37	chr14	20665795	20665795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcccccatgtacatcctgCtcgccaacttctccttcttg	5	18	2	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr14:20665795C>T	ENST00000357366.3	+	1	301	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTACATCCTGCTCGCCAACTT	0.527																																																	0								ENSG00000196832						117	95	102					14																	20665795		2203	4300	6503	OR11G2	SO:0001583	missense	0			-	HGNC		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.301C>T	14.37:g.20665795C>T	ENSP00000349930:p.Leu101Phe	Somatic	0	36	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	Q6IF09|Q96R33	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L101F	ENST00000357366.3	37	c.301	CCDS32032.1	14	.	.	.	.	.	.	.	.	.	.	c	16.36	3.102201	0.56183	.	.	ENSG00000196832	ENST00000357366	T	0.14391	2.51	4.67	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002923	T	0.46132	0.1377	H	0.98980	4.39	0.27082	N	0.963065	P	0.51653	0.947	P	0.54431	0.752	T	0.58918	-0.7551	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.899:0.0:0.101	.	101	Q8NGC1	O11G2_HUMAN	F	101	ENSP00000349930:L101F	ENSP00000349930:L101F	L	+	1	0	OR11G2	19735635	0.648000	0.27313	1.000000	0.80357	0.995000	0.86356	0.436000	0.21526	2.414000	0.81942	0.650000	0.86243	CTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR11G2	protein_coding	OTTHUMT00000395722.1	C		-		20665795	1	no_errors	ENST00000357366	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20665795	C	T	20665795	3	4	179	1	0	0	0	0	1	0	0	0	10927	797	28	2	303	2	OR11G2	14	20665795	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09		20665795	86683745	88	12601											
KIF26A	26153	genome.wustl.edu	37	chr14	104640600	104640600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagagacactcagcaccGtgcagctcgccgcccgcatc	10	18	1	1	rs370868498		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr14:104640600G>A	ENST00000423312.2	+	11	2146	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	KIF26A_ENST00000315264.7_Missense_Mutation_p.V577M	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	716	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACTCAGCACCGTGCAGCTCGC	0.697																																																	0								ENSG00000066735	G	MET/VAL	0,4292		0,0,2146	17	23	21		2146	1.1	0.9	14		21	2,8456		0,2,4227	no	missense	KIF26A	NM_015656.1	21	0,2,6373	AA,AG,GG		0.0236,0.0,0.0157	probably-damaging	716/1883	104640600	2,12748	2146	4229	6375	KIF26A	SO:0001583	missense	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2146G>A	14.37:g.104640600G>A	ENSP00000388241:p.Val716Met	Somatic	0	87	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	101	25.19	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V716M	ENST00000423312.2	37	c.2146	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333235	0.41297	0.0	2.36E-4	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.41400	1.0;1.0	4.13	1.07	0.20283	Kinesin, motor domain (3);	.	.	.	.	T	0.41743	0.1172	L	0.39397	1.21	0.28297	N	0.923273	D	0.64830	0.994	P	0.53954	0.738	T	0.29027	-1.0025	9	0.48119	T	0.1	.	6.3148	0.21184	0.2121:0.2558:0.5321:0.0	.	716	Q9ULI4	KI26A_HUMAN	M	716;577	ENSP00000388241:V716M;ENSP00000325452:V577M	ENSP00000325452:V577M	V	+	1	0	KIF26A	103710353	0.481000	0.25941	0.928000	0.36995	0.239000	0.25481	0.941000	0.29005	-0.011000	0.14247	0.313000	0.20887	GTG	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	G		-		104640600	1	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	SNP	0.627	A	A	104640600	G	A	104640600	3	1	179	1	0	0	0	0	1	0	0	0	8296	1145	40	1	2188	1	KIF26A	14	104640600	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	83974805	104640600	2708940	89	12602											
KIAA0284	283638	genome.wustl.edu	37	chr14	105353081	105353081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccccagcacgggatggCgtctatgtcagtgccaatgg	13	13	2	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr14:105353081C>T	ENST00000414716.3	+	12	2733	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	CEP170B_ENST00000453495.1_Silent_p.G836G|CEP170B_ENST00000556508.1_Silent_p.G765G|CEP170B_ENST00000418279.1_Silent_p.G765G	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	835						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CACGGGATGGCGTCTATGTCA	0.642																																																	0								ENSG00000099814						33	41	38					14																	105353081		1997	4145	6142	CEP170B	SO:0001819	synonymous_variant	0			-	HGNC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2505C>T	14.37:g.105353081C>T		Somatic	0	52	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	0	100.00	Q2KHR7|Q86TI7	Silent	SNP							pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.G836	ENST00000414716.3	37	c.2508	CCDS45175.1	14																																																																																			-	NULL		0.642	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	protein_coding	OTTHUMT00000410289.2	C	NM_001112726	-		105353081	1	no_errors	ENST00000453495	ensembl	human	known	74_37	silent	SNP	0.007	T	T	105353081	C	T	105353081	2	4	179	1	0	0	0	0	0	0	0	1	8168	755	27	1		1	KIAA0284	14	105353081	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	712481	105353081	1996459	90	12603											
TMEM87A	25963	genome.wustl.edu	37	chr15	42553434	42553434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtcgatgcataaaaTctccagaaaaggtctataaa	9	7	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr15:42553434T>A	ENST00000389834.4	-	5	683	c.419A>T	c.(418-420)gAt>gTt	p.D140V	TMEM87A_ENST00000307216.6_Missense_Mutation_p.D140V|TMEM87A_ENST00000448392.1_Missense_Mutation_p.D79V|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	140						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ATGCATAAAATCTCCAGAAAA	0.328																																																	0								ENSG00000103978						37	38	38					15																	42553434		2201	4299	6500	TMEM87A	SO:0001583	missense	0			-	HGNC	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.419A>T	15.37:g.42553434T>A	ENSP00000374484:p.Asp140Val	Somatic	0	36	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	86	17.31	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP							pfam_TM_rcpt_euk	p.D140V	ENST00000389834.4	37	c.419	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781337	0.70222	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	4.64	4.64	0.57946	.	0.312241	0.33515	N	0.004831	T	0.51449	0.1675	N	0.24115	0.695	0.80722	D	1	B;B;D	0.63046	0.068;0.098;0.992	B;B;P	0.59546	0.014;0.031;0.859	T	0.48317	-0.9046	9	0.34782	T	0.22	-2.3058	10.6149	0.45445	0.0:0.0:0.0:1.0	.	140;79;140	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	V	140;79;116;140	.	ENSP00000305894:D140V	D	-	2	0	TMEM87A	40340726	0.988000	0.35896	0.885000	0.34714	0.961000	0.63080	3.634000	0.54302	2.084000	0.62774	0.383000	0.25322	GAT	-	NULL		0.328	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	protein_coding	OTTHUMT00000420482.2	T	NM_015497	-		42553434	-1	no_errors	ENST00000389834	ensembl	human	known	74_37	missense	SNP	0.934	A	A	42553434	T	A	42553434	3	1	179	1	0	0	0	0	1	0	0	0	16217	1435	50	5	1358	5	TMEM87A	15	42553434	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09		42553434	59977958	91	12604											
RHCG	51458	genome.wustl.edu	37	chr15	90023597	90023597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgagcccaaagtaggCgccaaatgtgtggatggtca	13	9	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr15:90023597C>T	ENST00000268122.4	-	4	633	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	RHCG_ENST00000544600.1_Missense_Mutation_p.A189T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	189					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCAAAGTAGGCGCCAAATGTG	0.572																																																	0								ENSG00000140519						214	197	203					15																	90023597		2200	4299	6499	RHCG	SO:0001583	missense	0			-	HGNC	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.565G>A	15.37:g.90023597C>T	ENSP00000268122:p.Ala189Thr	Somatic	0	23	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	A8K4D4|Q6X3Y4	Missense_Mutation	SNP							pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.A189T	ENST00000268122.4	37	c.565	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.391862	0.95988	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.29655	1.56;1.56	5.21	5.21	0.72293	Ammonium transporter AmtB-like (3);	0.099800	0.64402	D	0.000002	T	0.66509	0.2796	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.75676	-0.3235	9	.	.	.	-22.2471	18.8117	0.92059	0.0:1.0:0.0:0.0	.	189;189	A8K4D4;Q9UBD6	.;RHCG_HUMAN	T	189;189;180	ENSP00000438123:A189T;ENSP00000268122:A189T	.	A	-	1	0	RHCG	87824601	1.000000	0.71417	0.984000	0.44739	0.932000	0.56968	7.788000	0.85771	2.462000	0.83206	0.456000	0.33151	GCC	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD		0.572	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	protein_coding	OTTHUMT00000312855.2	C	NM_016321	-		90023597	-1	no_errors	ENST00000268122	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90023597	C	T	90023597	3	4	179	1	0	0	0	0	1	0	0	0	13334	768	27	1	902	1	RHCG	15	90023597	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	47470163	90023597	12507795	92	12605											
LINS1	55180	genome.wustl.edu	37	chr15	101113917	101113917	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggatttcattataacTaagcttgctgctctaaggat	7	7	3	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr15:101113917T>A	ENST00000314742.8	-	5	1383	c.1161A>T	c.(1159-1161)ttA>ttT	p.L387F	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.L268F|LINS_ENST00000561308.1_Missense_Mutation_p.L387F	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	387										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCATTATAACTAAGCTTGCTG	0.338																																																	0								ENSG00000140471						71	68	69					15																	101113917		2203	4300	6503	LINS	SO:0001583	missense	0			-	HGNC	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1161A>T	15.37:g.101113917T>A	ENSP00000318423:p.Leu387Phe	Somatic	0	24	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	Q96FW2|Q9NVQ3	Missense_Mutation	SNP							NULL	p.L387F	ENST00000314742.8	37	c.1161	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396480	0.62177	.	.	ENSG00000140471	ENST00000314742	T	0.38401	1.14	6.07	-1.06	0.10002	.	0.000000	0.64402	D	0.000002	T	0.49236	0.1545	M	0.77103	2.36	0.22446	N	0.999096	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.39375	-0.9617	10	0.87932	D	0	-10.3722	1.4943	0.02463	0.1263:0.3047:0.2574:0.3116	.	268;387;387	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	F	387	ENSP00000318423:L387F	ENSP00000318423:L387F	L	-	3	2	LINS	98931440	0.014000	0.17966	0.020000	0.16555	0.971000	0.66376	-0.399000	0.07250	-0.082000	0.12640	-0.250000	0.11733	TTA	-	NULL		0.338	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	protein_coding	OTTHUMT00000313592.1	T	NM_018148	-		101113917	-1	no_errors	ENST00000314742	ensembl	human	known	74_37	missense	SNP	0.313	A	A	101113917	T	A	101113917	3	1	179	1	0	0	0	0	1	0	0	0	8820	1519	53	5	1124	5	LINS1	15	101113917	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	11090320	101113917	1417475	93	12606											
MYH11	4629	genome.wustl.edu	37	chr16	15844065	15844065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtagcgtggtcatcagcTtgcccagctgctccttgtac	11	13	2	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr16:15844065T>C	ENST00000300036.5	-	16	2097	c.1988A>G	c.(1987-1989)aAg>aGg	p.K663R	MYH11_ENST00000452625.2_Missense_Mutation_p.K670R|MYH11_ENST00000396324.3_Missense_Mutation_p.K670R|MYH11_ENST00000576790.2_Missense_Mutation_p.K663R	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	663	Actin-binding. {ECO:0000250}.|Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTCATCAGCTTGCCCAGCTG	0.637			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0								ENSG00000133392						162	122	135					16																	15844065		2197	4300	6497	MYH11	SO:0001583	missense	0			-	HGNC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1988A>G	16.37:g.15844065T>C	ENSP00000300036:p.Lys663Arg	Somatic	0	37	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K670R	ENST00000300036.5	37	c.2009	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274725	0.80580	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	L	0.31207	0.915	0.80722	D	1	B;B;B;B;B;B	0.15141	0.012;0.001;0.001;0.001;0.007;0.001	B;B;B;B;B;B	0.23852	0.049;0.033;0.033;0.033;0.033;0.02	T	0.79220	-0.1893	10	0.87932	D	0	.	14.7231	0.69323	0.0:0.0:0.0:1.0	.	670;663;663;670;663;670	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	R	663;663;670;670;670	ENSP00000300036:K663R;ENSP00000345136:K663R;ENSP00000379616:K670R;ENSP00000407821:K670R	ENSP00000300036:K663R	K	-	2	0	MYH11	15751566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.078000	0.62432	0.459000	0.35465	AAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	protein_coding	OTTHUMT00000252192.2	T	NM_001040113	-		15844065	-1	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	SNP	1.000	C	C	15844065	T	C	15844065	3	2	179	1	0	0	0	0	1	0	0	0	10033	1609	56	5	4069	5	MYH11	16	15844065	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09		15844065	74510688	94	12607											
GPT2	84706	genome.wustl.edu	37	chr16	46943701	46943701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatctctgagctcgacGccatccaggtgaattactac	8	13	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr16:46943701G>A	ENST00000340124.4	+	6	794	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	GPT2_ENST00000440783.2_Missense_Mutation_p.A128T	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	228					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TGAGCTCGACGCCATCCAGGT	0.582																																																	0								ENSG00000166123						90	85	86					16																	46943701		2203	4300	6503	GPT2	SO:0001583	missense	0			-	HGNC		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.682G>A	16.37:g.46943701G>A	ENSP00000345282:p.Ala228Thr	Somatic	0	31	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	Q8N9E2	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.A228T	ENST00000340124.4	37	c.682	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865021	0.91511	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;D	0.91237	1.98;-2.81	5.15	5.15	0.70609	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.90483	3.12	0.80722	D	1	D	0.65815	0.995	P	0.56612	0.802	D	0.95663	0.8717	10	0.56958	D	0.05	.	18.8172	0.92081	0.0:0.0:1.0:0.0	.	228	Q8TD30	ALAT2_HUMAN	T	228;128	ENSP00000345282:A228T;ENSP00000413804:A128T	ENSP00000345282:A228T	A	+	1	0	GPT2	45501202	1.000000	0.71417	0.805000	0.32314	0.937000	0.57800	9.137000	0.94496	2.677000	0.91161	0.561000	0.74099	GCC	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.582	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	protein_coding	OTTHUMT00000255741.2	G		-		46943701	1	no_errors	ENST00000340124	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46943701	G	A	46943701	3	1	179	1	0	0	0	0	1	0	0	0	6740	1087	38	1	700	1	GPT2	16	46943701	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	31099636	46943701	43411052	95	12608											
TP53	7157	genome.wustl.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	11	14	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:7579311C>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_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.?(26)|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)	GGGCAACTGACCGTGCAAGTC	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	GRCh37	CS951538	TP53	S		ENSG00000141510						66	61	63					17																	7579311		2203	4300	6503	TP53	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;	-	HGNC	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.7579311C>T		Somatic	0	59	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	99	1	99.00	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							-	e3+1	ENST00000269305.4	37	c.375+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015182	0.75161	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.	-	-		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7579311	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	7579311	C	T	7579311	5	4	179	1	0	0	0	0	0	0	1	0	16388	521	18	2	926	2	TP53	17	7579311	Splice_Site	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09		7579311	73615899	96	12609											
MYOCD	93649	genome.wustl.edu	37	chr17	12626248	12626248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcaatgaaaaaattgCtctacgaccagggccactgg	9	10	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:12626248C>T	ENST00000343344.4	+	5	338	c.338C>T	c.(337-339)gCt>gTt	p.A113V	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A17V|MYOCD_ENST00000425538.1_Missense_Mutation_p.A113V			Q8IZQ8	MYCD_HUMAN	myocardin	113					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GAAAAAATTGCTCTACGACCA	0.463																																																	0								ENSG00000141052						136	140	139					17																	12626248		2203	4300	6503	MYOCD	SO:0001583	missense	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.338C>T	17.37:g.12626248C>T	ENSP00000341835:p.Ala113Val	Somatic	0	14	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	31	59.21	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.A113V	ENST00000343344.4	37	c.338	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991945	0.74703	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.52295	0.67	5.46	5.46	0.80206	.	0.190106	0.44902	D	0.000411	T	0.54143	0.1840	M	0.81942	2.565	0.80722	D	1	B;B;B	0.34103	0.437;0.314;0.301	B;B;B	0.32583	0.148;0.029;0.054	T	0.60762	-0.7199	10	0.72032	D	0.01	-22.9684	18.2528	0.90009	0.0:1.0:0.0:0.0	.	17;113;113	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	V	113;113;17	ENSP00000341835:A113V	ENSP00000341835:A113V	A	+	2	0	MYOCD	12566973	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.823000	0.69272	2.840000	0.97914	0.655000	0.94253	GCT	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat		0.463	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	C	NM_153604	-		12626248	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12626248	C	T	12626248	3	4	179	1	0	0	0	0	1	0	0	0	10089	797	28	2	356	2	MYOCD	17	12626248	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	5046937	12626248	68568962	97	12610											
MYO15A	51168	genome.wustl.edu	37	chr17	18025157	18025157	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccctgagaagcctgaagaaGaggccaccctgggggacccc	13	15	0	4			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:18025157G>T	ENST00000205890.5	+	2	3381	c.3043G>T	c.(3043-3045)Gag>Tag	p.E1015*		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1015					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCTGAAGAAGAGGCCACCCT	0.622																																																	0								ENSG00000091536						33	38	37					17																	18025157		1914	4123	6037	MYO15A	SO:0001587	stop_gained	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3043G>T	17.37:g.18025157G>T	ENSP00000205890:p.Glu1015*	Somatic	0	41	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	66	23.26	B4DFC7	Nonsense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E1015*	ENST00000205890.5	37	c.3043	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	g	44	10.635156	0.99441	.	.	ENSG00000091536	ENST00000205890	.	.	.	4.83	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.38678	D	0.952462	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	8.8792	0.35365	0.105:0.0:0.895:0.0	.	.	.	.	X	1015	.	ENSP00000205890:E1015X	E	+	1	0	MYO15A	17965882	0.312000	0.24545	0.480000	0.27341	0.479000	0.33129	1.723000	0.38053	1.028000	0.39785	0.555000	0.69702	GAG	-	NULL		0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	G	NM_016239	-		18025157	1	no_errors	ENST00000205890	ensembl	human	known	74_37	nonsense	SNP	0.545	T	T	18025157	G	T	18025157	4	4	179	1	0	0	0	0	0	1	0	0	10065	943	33	3	3045	3	MYO15A	17	18025157	Nonsense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	5398909	18025157	63170053	98	12611											
NBR1	4077	genome.wustl.edu	37	chr17	41338461	41338461	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggatcctgcagtgcaGgtatgaagggtatggcccag	15	9	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:41338461G>T	ENST00000422280.1	+	6	861	c.402G>T	c.(400-402)caG>caT	p.Q134H	NBR1_ENST00000389312.4_Splice_Site_p.Q134H|NBR1_ENST00000590996.1_Splice_Site_p.Q134H|NBR1_ENST00000542611.1_Splice_Site_p.Q113H|NBR1_ENST00000589872.1_Splice_Site_p.Q134H|NBR1_ENST00000341165.6_Splice_Site_p.Q134H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	134					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTGCAGTGCAGGTATGAAGGG	0.403																																																	0								ENSG00000188554						37	35	36					17																	41338461		1876	4106	5982	NBR1	SO:0001630	splice_region_variant	0			-	HGNC	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.402+1G>T	17.37:g.41338461G>T		Somatic	0	34	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP							pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.Q134H	ENST00000422280.1	37	c.402	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217484	0.22373	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46063	1.43;0.88;1.43;1.45	5.43	4.47	0.54385	.	0.483808	0.22763	N	0.055924	T	0.35098	0.0920	L	0.41236	1.265	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.11329	0.005;0.006;0.003	T	0.17349	-1.0372	10	0.66056	D	0.02	-1.1256	11.2756	0.49165	0.0849:0.0:0.9151:0.0	.	113;134;134	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	H	134;113;134;134;134	ENSP00000411250:Q134H;ENSP00000437545:Q113H;ENSP00000343479:Q134H;ENSP00000373963:Q134H	ENSP00000343479:Q134H	Q	+	3	2	NBR1	38591987	1.000000	0.71417	0.975000	0.42487	0.518000	0.34316	4.524000	0.60552	1.320000	0.45209	0.609000	0.83330	CAG	-	NULL		0.403	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	protein_coding	OTTHUMT00000453461.1	G	NM_005899	-	Missense_Mutation	41338461	1	no_errors	ENST00000341165	ensembl	human	known	74_37	missense	SNP	0.996	T	T	41338461	G	T	41338461	5	4	179	1	0	0	0	0	0	0	1	0	10202	1014	35	3	420	3	NBR1	17	41338461	Splice_Site	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	23313304	41338461	39856749	99	12612											
TOM1L1	10040	genome.wustl.edu	37	chr17	52992048	52992048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctgtccctactgcaccaGctctttcttctgtaattgct	5	14	4	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:52992048G>T	ENST00000575882.1	+	6	900	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TOM1L1_ENST00000570371.1_Missense_Mutation_p.A183S|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A106S|TOM1L1_ENST00000575333.1_Missense_Mutation_p.A183S|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A106S|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A183S|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A176S|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000572405.1_Missense_Mutation_p.A148S	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	183					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TACTGCACCAGCTCTTTCTTC	0.378																																																	0								ENSG00000141198						290	266	274					17																	52992048		2203	4300	6503	TOM1L1	SO:0001583	missense	0			-	HGNC	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.547G>T	17.37:g.52992048G>T	ENSP00000460823:p.Ala183Ser	Somatic	0	36	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	Q53G06|Q8N749	Missense_Mutation	SNP							pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.A183S	ENST00000575882.1	37	c.547	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	8.694	0.908139	0.17833	.	.	ENSG00000141198	ENST00000445275;ENST00000348161;ENST00000536554	T;T;T	0.41758	0.99;0.99;0.99	5.55	4.57	0.56435	.	0.508887	0.17949	N	0.156580	T	0.21631	0.0521	N	0.24115	0.695	0.37623	D	0.921363	P;P;P;B;P	0.44734	0.842;0.842;0.704;0.255;0.842	B;B;B;B;B	0.33750	0.169;0.169;0.169;0.053;0.169	T	0.08371	-1.0725	10	0.09338	T	0.73	-8.4267	10.6953	0.45894	0.0903:0.0:0.9097:0.0	.	176;106;183;183;106	B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;TM1L1_HUMAN;.;.	S	183;106;106	ENSP00000408958:A183S;ENSP00000343901:A106S;ENSP00000443099:A106S	ENSP00000343901:A106S	A	+	1	0	TOM1L1	50347047	0.928000	0.31464	0.994000	0.49952	0.662000	0.39071	2.982000	0.49337	2.606000	0.88127	0.655000	0.94253	GCT	-	pirsf_TOM1		0.378	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	protein_coding	OTTHUMT00000439029.2	G	NM_005486	-		52992048	1	no_errors	ENST00000575882	ensembl	human	known	74_37	missense	SNP	0.368	T	T	52992048	G	T	52992048	3	4	179	1	0	0	0	0	1	0	0	0	16359	971	34	3	569	3	TOM1L1	17	52992048	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	11653587	52992048	28203162	100	12613											
DCAF7	10238	genome.wustl.edu	37	chr17	61628123	61628123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaactggagtgtgcggcccGataagcgctttcgcttggcg	15	10	0	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:61628123G>A	ENST00000310827.4	+	1	302	c.85G>A	c.(85-87)Gat>Aat	p.D29N	DCAF7_ENST00000431926.1_Missense_Mutation_p.D29N|DCAF7_ENST00000415273.2_Missense_Mutation_p.D29N|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	29					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGTGCGGCCCGATAAGCGCTT	0.652																																																	0								ENSG00000136485						56	62	60					17																	61628123		1984	4159	6143	DCAF7	SO:0001583	missense	0			-	HGNC	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.85G>A	17.37:g.61628123G>A	ENSP00000308344:p.Asp29Asn	Somatic	0	33	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D29N	ENST00000310827.4	37	c.85		17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671297	0.88348	.	.	ENSG00000136485	ENST00000310827;ENST00000431926;ENST00000415273	T;T;T	0.69175	-0.25;-0.38;1.23	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.090917	0.85682	D	0.000000	T	0.68751	0.3035	L	0.51422	1.61	0.80722	D	1	D;B	0.53312	0.959;0.426	P;B	0.47705	0.555;0.116	T	0.65438	-0.6168	10	0.28530	T	0.3	-30.8828	19.6415	0.95760	0.0:0.0:1.0:0.0	.	29;29	B4E039;P61962	.;DCAF7_HUMAN	N	29	ENSP00000308344:D29N;ENSP00000402312:D29N;ENSP00000403920:D29N	ENSP00000308344:D29N	D	+	1	0	DCAF7	58981855	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	9.115000	0.94336	2.651000	0.90000	0.561000	0.74099	GAT	-	superfamily_WD40_repeat_dom		0.652	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	protein_coding		G	NM_005828	-		61628123	1	no_errors	ENST00000310827	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61628123	G	A	61628123	3	1	179	1	0	0	0	0	1	0	0	0	4277	1058	37	1	87	1	DCAF7	17	61628123	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	8636075	61628123	19567087	101	12614											
KIF19	124602	genome.wustl.edu	37	chr17	72339230	72339230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctatgttcagaccctcaaCgacctcttccgtgccatcga	6	15	4	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr17:72339230C>T	ENST00000389916.4	+	5	525	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	129	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGACCCTCAACGACCTCTTCC	0.592																																																	0								ENSG00000196169						97	75	82					17																	72339230		2203	4300	6503	KIF19	SO:0001819	synonymous_variant	0			-	HGNC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.387C>T	17.37:g.72339230C>T		Somatic	0	32	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	47	28.79	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.N129	ENST00000389916.4	37	c.387	CCDS32718.2	17																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	C	NM_153209	-		72339230	1	no_errors	ENST00000389916	ensembl	human	known	74_37	silent	SNP	0.903	T	T	72339230	C	T	72339230	2	4	179	1	0	0	0	0	0	0	0	1	8284	535	19	1		1	KIF19	17	72339230	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	10711107	72339230	8855980	102	12615											
IMPA2	3613	genome.wustl.edu	37	chr18	12009897	12009897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggttcattgcagaagaGgccgcggcttctggggccaa	15	10	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr18:12009897G>T	ENST00000269159.3	+	3	488	c.246G>T	c.(244-246)gaG>gaT	p.E82D	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	82					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTGCAGAAGAGGCCGCGGCTT	0.542																																																	0								ENSG00000141401						121	123	122					18																	12009897		2203	4300	6503	IMPA2	SO:0001583	missense	0			-	HGNC	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.246G>T	18.37:g.12009897G>T	ENSP00000269159:p.Glu82Asp	Somatic	0	25	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	B0YJ29|Q9UJT3	Missense_Mutation	SNP							pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.E82D	ENST00000269159.3	37	c.246	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884422	0.72410	.	.	ENSG00000141401	ENST00000269159	T	0.76060	-0.99	5.48	-1.45	0.08828	.	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	H	0.98178	4.165	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.88279	0.2935	10	0.87932	D	0	-30.4292	10.2101	0.43136	0.7336:0.0:0.2664:0.0	.	82	O14732	IMPA2_HUMAN	D	82	ENSP00000269159:E82D	ENSP00000269159:E82D	E	+	3	2	IMPA2	11999897	1.000000	0.71417	0.869000	0.34112	0.791000	0.44710	0.815000	0.27253	-0.168000	0.10853	0.491000	0.48974	GAG	-	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase		0.542	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	protein_coding	OTTHUMT00000254601.1	G		-		12009897	1	no_errors	ENST00000269159	ensembl	human	known	74_37	missense	SNP	0.993	T	T	12009897	G	T	12009897	3	4	179	1	0	0	0	0	1	0	0	0	7725	991	35	3	256	3	IMPA2	18	12009897	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		12009897	66067351	103	12616											
ADNP2	22850	genome.wustl.edu	37	chr18	77894115	77894115	+	Frame_Shift_Del	DEL	T	T	-													gctccaaaaccagcagcacaTttggctgcaccagcaaatgg							TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr18:77894115delT	ENST00000262198.4	+	4	1274	c.819delT	c.(817-819)catfs	p.H273fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	273	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGCAGCACATTTGGCTGCAC	0.502																																																	0								ENSG00000101544						70	72	71					18																	77894115		2203	4300	6503	ADNP2	SO:0001589	frameshift_variant	0				HGNC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.819delT	18.37:g.77894115delT	ENSP00000262198:p.His273fs	Somatic	0	30	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A8K951|O94943|Q9H9P3	Frame_Shift_Del	DEL							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.L274fs	ENST00000262198.4	37	c.819	CCDS32853.1	18																																																																																			-	NULL		0.502	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	T	NM_014913			77894115	1	no_errors	ENST00000262198	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	77894115	T	-	77894115	7	5	179	1	0	1	0	1	0	0	0	0	324	1490	52	0	829	0	ADNP2	18	77894115	Frame_Shift_Del	DEL	T	TCGA-LI-A9QH-01A-11D-A37C-09	65884218	77894115	183133	104	12617											
FBN3	84467	genome.wustl.edu	37	chr19	8194143	8194143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcagtccttgcctgaGgcacctgcctcataacccag	9	16	1	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:8194143G>A	ENST00000600128.1	-	17	2565	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A	FBN3_ENST00000601739.1_Silent_p.A717A|FBN3_ENST00000270509.2_Silent_p.A717A			Q75N90	FBN3_HUMAN	fibrillin 3	717	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTTGCCTGAGGCACCTGCCT	0.637																																																	0								ENSG00000142449						49	46	47					19																	8194143		2203	4300	6503	FBN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2151C>T	19.37:g.8194143G>A		Somatic	0	50	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	50	31.51	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.A717	ENST00000600128.1	37	c.2151	CCDS12196.1	19																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447	-		8194143	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	SNP	0.000	A	A	8194143	G	A	8194143	2	1	179	1	0	0	0	0	0	0	0	1	5706	987	35	2		2	FBN3	19	8194143	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		8194143	50934840	105	12618											
MUC16	94025	genome.wustl.edu	37	chr19	9084743	9084743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagctcatttgttttccGtgcgtcaaggatatctgagg	14	7	3	1	rs372186047		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:9084743G>A	ENST00000397910.4	-	1	7275	c.7072C>T	c.(7072-7074)Cgg>Tgg	p.R2358W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2358	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						TTTGTTTTCCGTGCGTCAAGG	0.433																																																	0								ENSG00000181143	G	TRP/ARG	0,3876		0,0,1938	154	151	152		7072	-0.4	0	19		152	1,8283		0,1,4141	no	missense	MUC16	NM_024690.2	101	0,1,6079	AA,AG,GG		0.0121,0.0,0.0082	benign	2358/14508	9084743	1,12159	1938	4142	6080	MUC16	SO:0001583	missense	0			-	HGNC	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.7072C>T	19.37:g.9084743G>A	ENSP00000381008:p.Arg2358Trp	Somatic	0	36	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R2358W	ENST00000397910.4	37	c.7072	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.134	-1.110164	0.01813	0.0	1.21E-4	ENSG00000181143	ENST00000397910	T	0.03004	4.08	0.225	-0.451	0.12214	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.43032	-0.9416	7	0.87932	D	0	.	.	.	.	.	2358	B5ME49	.	W	2358	ENSP00000381008:R2358W	ENSP00000381008:R2358W	R	-	1	2	MUC16	8945743	0.013000	0.17824	0.008000	0.14137	0.008000	0.06430	-0.931000	0.03967	-0.694000	0.05113	-0.680000	0.03767	CGG	-	NULL		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9084743	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.010	A	A	9084743	G	A	9084743	3	1	179	1	0	0	0	0	1	0	0	0	9975	1144	40	1	36787	1	MUC16	19	9084743	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	890600	9084743	50044240	106	12619											
DOCK6	57572	genome.wustl.edu	37	chr19	11347064	11347064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctgatgaccagacgcaCgagcttgtccagcacgtggt	14	12	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:11347064C>T	ENST00000294618.7	-	20	2361	c.2350G>A	c.(2350-2352)Gtg>Atg	p.V784M	C19orf80_ENST00000591200.1_5'Flank|DOCK6_ENST00000319867.7_Missense_Mutation_p.V88M|RN7SL298P_ENST00000581369.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	784					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACCAGACGCACGAGCTTGTCC	0.622																																																	0								ENSG00000130158						20	25	24					19																	11347064		2057	4195	6252	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2350G>A	19.37:g.11347064C>T	ENSP00000294618:p.Val784Met	Somatic	0	39	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N	p.V784M	ENST00000294618.7	37	c.2350	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670557	0.67814	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.33438	1.41;1.41	5.11	4.01	0.46588	.	0.063201	0.64402	D	0.000014	T	0.22085	0.0532	N	0.12182	0.205	0.44619	D	0.997598	P;D	0.54964	0.936;0.969	P;P	0.51974	0.686;0.557	T	0.02893	-1.1097	10	0.72032	D	0.01	-27.8771	3.9881	0.09525	0.0:0.6638:0.0:0.3362	.	88;784	C9IZV6;Q96HP0	.;DOCK6_HUMAN	M	784;88	ENSP00000294618:V784M;ENSP00000321556:V88M	ENSP00000294618:V784M	V	-	1	0	DOCK6	11208064	0.744000	0.28250	0.628000	0.29241	0.506000	0.33950	1.112000	0.31172	2.378000	0.81104	0.561000	0.74099	GTG	-	NULL		0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	C	NM_020812	-		11347064	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11347064	C	T	11347064	3	4	179	1	0	0	0	0	1	0	0	0	4693	536	19	1	3909	1	DOCK6	19	11347064	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	2262321	11347064	47781919	107	12620											
CCDC151	115948	genome.wustl.edu	37	chr19	11534640	11534640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagctcctcctccttgGcatgcaggctgtcctggatg	12	15	0	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:11534640G>A	ENST00000356392.4	-	8	1109	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	CCDC151_ENST00000586836.1_Missense_Mutation_p.A150V|CCDC151_ENST00000545100.1_Missense_Mutation_p.A287V|CCDC151_ENST00000591179.1_Missense_Mutation_p.A281V	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	341										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTCCTCCTTGGCATGCAGGCT	0.622																																																	0								ENSG00000198003						117	128	124					19																	11534640		2178	4265	6443	CCDC151	SO:0001583	missense	0			-	HGNC		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1022C>T	19.37:g.11534640G>A	ENSP00000348757:p.Ala341Val	Somatic	0	32	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4DXT0|Q96CG5	Missense_Mutation	SNP							NULL	p.A341V	ENST00000356392.4	37	c.1022	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105705	0.37145	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83506	-1.73;-1.73	4.13	0.315	0.15852	.	0.997587	0.08108	N	0.996655	T	0.67813	0.2933	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.14578	0.011;0.006;0.006	T	0.50874	-0.8776	10	0.29301	T	0.29	-0.6935	4.3526	0.11163	0.2045:0.0:0.565:0.2305	.	341;341;321	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	V	287;341;320	ENSP00000442987:A287V;ENSP00000348757:A341V	ENSP00000348757:A341V	A	-	2	0	CCDC151	11395640	0.878000	0.30173	0.035000	0.18076	0.639000	0.38242	1.328000	0.33758	-0.057000	0.13199	0.491000	0.48974	GCC	-	NULL		0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	protein_coding	OTTHUMT00000458800.1	G	NM_145045	-		11534640	-1	no_errors	ENST00000356392	ensembl	human	known	74_37	missense	SNP	0.001	A	A	11534640	G	A	11534640	3	1	179	1	0	0	0	0	1	0	0	0	2788	1203	42	2	789	2	CCDC151	19	11534640	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	187576	11534640	47594343	108	12621											
RAD23A	5886	genome.wustl.edu	37	chr19	13060159	13060159	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgcggcaggtgattcagcaGaaccctgcgctgctgcccgc	13	14	1	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:13060159G>C	ENST00000586534.1	+	7	811	c.750G>C	c.(748-750)caG>caC	p.Q250H	RAD23A_ENST00000316856.3_Missense_Mutation_p.Q249H|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.Q85H|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q250H			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	250					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGATTCAGCAGAACCCTGCGC	0.632								Nucleotide excision repair (NER)																																									0								ENSG00000179262						60	64	63					19																	13060159		2203	4300	6503	RAD23A	SO:0001583	missense	0			-	HGNC		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.750G>C	19.37:g.13060159G>C	ENSP00000467024:p.Gln250His	Somatic	0	32	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP							pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.Q250H	ENST00000586534.1	37	c.750	CCDS12289.1	19	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817658	0.50633	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T	0.26223	1.75	5.03	3.97	0.46021	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.93898	3.47	0.58432	D	0.99999	P;B;D	0.71674	0.95;0.059;0.998	D;B;D	0.75484	0.916;0.232;0.986	T	0.68085	-0.5502	10	0.72032	D	0.01	-22.5976	11.5358	0.50636	0.0936:0.0:0.9064:0.0	.	249;266;250	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	H	250;85	ENSP00000438741:Q85H	ENSP00000321365:Q250H	Q	+	3	2	RAD23A	12921159	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.259000	0.58828	1.076000	0.40961	0.655000	0.94253	CAG	-	pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,tigrfam_Rad23		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	protein_coding	OTTHUMT00000452752.1	G	NM_005053	-		13060159	1	no_errors	ENST00000586534	ensembl	human	known	74_37	missense	SNP	1.000	C	C	13060159	G	C	13060159	3	2	179	1	0	0	0	0	1	0	0	0	12990	933	33	4	776	4	RAD23A	19	13060159	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	1525519	13060159	46068824	109	12622											
NWD1	284434	genome.wustl.edu	37	chr19	16918668	16918668	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggacccctgcccggtcatCgatgggccaagatacacctt	12	14	1	1	rs376902807		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:16918668C>T	ENST00000552788.1	+	16	4008	c.4008C>T	c.(4006-4008)atC>atT	p.I1336I	NWD1_ENST00000549814.1_Silent_p.I1294I|NWD1_ENST00000524140.2_Silent_p.I1336I|NWD1_ENST00000523826.1_Silent_p.I1130I|NWD1_ENST00000339803.6_Silent_p.I1201I|NWD1_ENST00000379808.3_Silent_p.I1336I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1336							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCGGTCATCGATGGGCCAA	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		19202	0		0	False		,,,				2504	0																0								ENSG00000188039	C		0,4406		0,0,2203	109	94	99		4008	-2.3	0	19		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1336/1433	16918668	1,13005	2203	4300	6503	NWD1	SO:0001819	synonymous_variant	0			-	HGNC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4008C>T	19.37:g.16918668C>T		Somatic	0	26	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	C9J021|Q68CT3	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1336	ENST00000552788.1	37	c.4008		19																																																																																			-	superfamily_WD40_repeat_dom		0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	protein_coding	OTTHUMT00000403569.1	C	NM_001007525	-		16918668	1	no_errors	ENST00000379808	ensembl	human	known	74_37	silent	SNP	0.088	T	T	16918668	C	T	16918668	2	4	179	1	0	0	0	0	0	0	0	1	10783	874	31	1		1	NWD1	19	16918668	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	3858509	16918668	42210315	110	12623											
LPAR2	9170	genome.wustl.edu	37	chr19	19735114	19735114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcgggaagcatgatgCgagtgctggcacctccctgg	14	12	1	1	rs557173160		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:19735114C>T	ENST00000542587.1	-	6	1909	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	LPAR2_ENST00000586703.1_Missense_Mutation_p.R336H|LPAR2_ENST00000407877.3_Missense_Mutation_p.R336H			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	336					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AAGCATGATGCGAGTGCTGGC	0.622													C|||	1	0.000199681	0	0	5008	,	,		21165	0		0	False		,,,				2504	0.001																0								ENSG00000064547						161	145	151					19																	19735114		2203	4300	6503	LPAR2	SO:0001583	missense	0			-	HGNC	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.1007G>A	19.37:g.19735114C>T	ENSP00000443256:p.Arg336His	Somatic	0	32	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O00543|O43431	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.R336H	ENST00000542587.1	37	c.1007	CCDS12407.1	19	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251329	0.59212	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.80738	-1.41;-1.41	4.78	4.78	0.61160	.	0.669733	0.14130	N	0.339421	T	0.72622	0.3483	L	0.29908	0.895	0.29769	N	0.834893	B	0.19935	0.04	B	0.08055	0.003	T	0.68845	-0.5301	10	0.52906	T	0.07	.	15.346	0.74337	0.0:1.0:0.0:0.0	.	336	Q9HBW0	LPAR2_HUMAN	H	336	ENSP00000384665:R336H;ENSP00000443256:R336H	ENSP00000384665:R336H	R	-	2	0	LPAR2	19596114	0.862000	0.29867	0.769000	0.31535	0.920000	0.55202	0.810000	0.27183	2.480000	0.83734	0.561000	0.74099	CGC	-	prints_LPA_rcpt_EDG4		0.622	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	protein_coding	OTTHUMT00000460544.1	C	NM_004720	-		19735114	-1	no_errors	ENST00000407877	ensembl	human	known	74_37	missense	SNP	0.540	T	T	19735114	C	T	19735114	3	4	179	1	0	0	0	0	1	0	0	0	8907	768	27	1	52	1	LPAR2	19	19735114	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	2816446	19735114	39393869	111	12624											
MAG	4099	genome.wustl.edu	37	chr19	35801001	35801001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggccccgccccgcGtcatctgcaccgcgaggaac	12	19	2	0	rs142036180		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:35801001G>A	ENST00000392213.3	+	8	1615	c.1456G>A	c.(1456-1458)Gtc>Atc	p.V486I	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.V486I|MAG_ENST00000537831.2_Missense_Mutation_p.V461I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	486	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCGCCCCGCGTCATCTGCAC	0.697																																																	0								ENSG00000105695	G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	34	34	34		1381,1456,1456	4.7	1	19	dbSNP_134	34	2,8592		0,2,4295	no	missense,missense,missense	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	29,29,29	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	461/602,486/627,486/583	35801001	2,12998	2203	4297	6500	MAG	SO:0001583	missense	0			-	HGNC	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1456G>A	19.37:g.35801001G>A	ENSP00000376048:p.Val486Ile	Somatic	0	20	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	66	30.53	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V486I	ENST00000392213.3	37	c.1456	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333059	0.41297	0.0	2.33E-4	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13778	2.56;2.56;2.56	4.68	4.68	0.58851	.	0.063541	0.64402	D	0.000007	T	0.06234	0.0161	N	0.14661	0.345	0.43412	D	0.995558	B;P;P	0.37688	0.336;0.605;0.605	B;B;B	0.24155	0.051;0.033;0.033	T	0.29761	-1.0001	10	0.45353	T	0.12	.	8.6702	0.34145	0.1022:0.0:0.8978:0.0	.	523;486;486	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	I	523;486;486;461	ENSP00000355234:V486I;ENSP00000376048:V486I;ENSP00000440695:V461I	ENSP00000262624:V523I	V	+	1	0	MAG	40492841	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.884000	0.48562	2.431000	0.82371	0.462000	0.41574	GTC	-	NULL		0.697	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	protein_coding	OTTHUMT00000466071.1	G	NM_080600	rs142036180		35801001	1	no_errors	ENST00000392213	ensembl	human	known	74_37	missense	SNP	0.999	A	A	35801001	G	A	35801001	3	1	179	1	0	0	0	0	1	0	0	0	9164	1145	40	1	1478	1	MAG	19	35801001	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09	16065887	35801001	23327982	112	12625											
ZNF565	147929	genome.wustl.edu	37	chr19	36685966	36685966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaccaaagttctccagagtCacctccctgtacaagtccct	6	15	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:36685966C>T	ENST00000355114.5	-	3	948	c.222G>A	c.(220-222)gtG>gtA	p.V74V	ZNF565_ENST00000304116.5_Silent_p.V34V|ZNF565_ENST00000392173.2_Silent_p.V34V			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	74	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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTCCAGAGTCACCTCCCTGT	0.532																																																	0								ENSG00000196357						160	128	139					19																	36685966		2203	4300	6503	ZNF565	SO:0001819	synonymous_variant	0			-	HGNC	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.222G>A	19.37:g.36685966C>T		Somatic	0	40	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	133	12.50	B3KQ35|Q6NUS2	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V34	ENST00000355114.5	37	c.102		19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.532	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	protein_coding	OTTHUMT00000451697.1	C	NM_152477	-		36685966	-1	no_errors	ENST00000304116	ensembl	human	known	74_37	silent	SNP	1.000	T	T	36685966	C	T	36685966	2	4	179	1	0	0	0	0	0	0	0	1	18003	813	29	2		2	ZNF565	19	36685966	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	884965	36685966	22443017	113	12626											
SHANK1	50944	genome.wustl.edu	37	chr19	51165487	51165487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggtcggtgagagggagCgcgaggcccctgacaaggct	20	10	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:51165487C>T	ENST00000293441.1	-	23	6239	c.6221G>A	c.(6220-6222)cGc>cAc	p.R2074H	SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065H|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461H|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082H|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2074					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)			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)		TGAGAGGGAGCGCGAGGCCCC	0.687																																																	0								ENSG00000161681						31	32	31					19																	51165487		2203	4300	6503	SHANK1	SO:0001583	missense	0			-	HGNC	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.6221G>A	19.37:g.51165487C>T	ENSP00000293441:p.Arg2074His	Somatic	0	30	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	0	100.00	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R2082H	ENST00000293441.1	37	c.6245	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	c	9.657	1.143110	0.21205	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.53857	0.7;1.06;0.72;0.6	3.55	3.55	0.40652	.	0.683935	0.11773	U	0.530937	T	0.47857	0.1468	L	0.46157	1.445	0.44825	D	0.99783	B;B	0.27732	0.056;0.187	B;B	0.23150	0.005;0.044	T	0.52909	-0.8512	10	0.72032	D	0.01	.	14.4496	0.67376	0.0:1.0:0.0:0.0	.	2074;1461	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	H	2074;1461;2065;2082	ENSP00000293441:R2074H;ENSP00000375689:R1461H;ENSP00000351984:R2065H;ENSP00000375690:R2082H	ENSP00000293441:R2074H	R	-	2	0	SHANK1	55857299	0.999000	0.42202	0.993000	0.49108	0.796000	0.44982	1.149000	0.31626	2.010000	0.58986	0.450000	0.29827	CGC	-	NULL		0.687	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	C	NM_016148	-		51165487	-1	no_errors	ENST00000391814	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51165487	C	T	51165487	3	4	179	1	0	0	0	0	1	0	0	0	14272	768	27	1	268	1	SHANK1	19	51165487	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	14479521	51165487	7963496	114	12627											
OSCAR	126014	genome.wustl.edu	37	chr19	54598486	54598486	+	3'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagtgctcctggggcTcaggggcggataccagcagg	18	11	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:54598486T>G	ENST00000284648.6	-	0	1503				OSCAR_ENST00000351806.4_Nonstop_Mutation_p.*253C|OSCAR_ENST00000358375.4_Nonstop_Mutation_p.*264C|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Nonstop_Mutation_p.*268C			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCCTGGGGCTCAGGGGCGGA	0.672																																																	0								ENSG00000170909						19	22	21					19																	54598486		2203	4299	6502	OSCAR	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.*457A>C	19.37:g.54598486T>G		Somatic	0	83	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	63	30.77	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Nonstop_Mutation	SNP							smart_Ig_sub	p.*268C	ENST00000284648.6	37	c.804		19	.	.	.	.	.	.	.	.	.	.	.	4.817	0.151889	0.09185	.	.	ENSG00000170909	ENST00000356532;ENST00000358375;ENST00000351806	.	.	.	1.83	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7349	0.18061	0.0:0.0:0.0:1.0	.	.	.	.	C	268;264;253	.	.	X	-	3	0	OSCAR	59290298	0.113000	0.22115	0.814000	0.32528	0.057000	0.15508	1.858000	0.39408	1.092000	0.41356	0.374000	0.22700	TGA	-	NULL		0.672	OSCAR-001	NOVEL	basic	protein_coding	OSCAR	protein_coding	OTTHUMT00000139493.4	T	NM_133169	-		54598486	-1	no_errors	ENST00000356532	ensembl	human	known	74_37	nonstop	SNP	0.889	G	G	54598486	T	G	54598486	1	3	179	0	1	0	0	0	0	0	0	0	11287	1564	54	5		5	OSCAR	19	54598486	3'UTR	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	3432999	54598486	4530497	115	12628											
NLRP2	55655	genome.wustl.edu	37	chr19	55494500	55494500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcggggtgcaggagtcCgacctccgtctgttcctgga	15	12	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:55494500C>T	ENST00000543010.1	+	6	1577	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	NLRP2_ENST00000448584.2_Silent_p.S478S|NLRP2_ENST00000538819.1_Silent_p.S454S|NLRP2_ENST00000391721.4_Silent_p.S454S|NLRP2_ENST00000537859.1_Silent_p.S456S|NLRP2_ENST00000339757.7_Silent_p.S456S|NLRP2_ENST00000427260.2_Silent_p.S455S|NLRP2_ENST00000263437.6_Silent_p.S475S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	478	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGCAGGAGTCCGACCTCCGTC	0.642																																																	0								ENSG00000022556						38	38	38					19																	55494500		2203	4300	6503	NLRP2	SO:0001819	synonymous_variant	0			-	HGNC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1434C>T	19.37:g.55494500C>T		Somatic	0	20	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S478	ENST00000543010.1	37	c.1434	CCDS12913.1	19																																																																																			-	NULL		0.642	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	protein_coding	OTTHUMT00000396152.1	C	NM_017852	-		55494500	1	no_errors	ENST00000448584	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55494500	C	T	55494500	2	4	179	1	0	0	0	0	0	0	0	1	10479	639	23	1		1	NLRP2	19	55494500	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	896014	55494500	3634483	116	12629											
GP6	51206	genome.wustl.edu	37	chr19	55525954	55525954	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctgggaaccttagagaTccgtctggagcccatattag	12	9	1	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:55525954T>C	ENST00000417454.1	-	0	1382				CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000310373.3_Silent_p.G453G	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACCTTAGAGATCCGTCTGGAG	0.542																																																	0								ENSG00000088053						84	90	88					19																	55525954		1951	4132	6083	GP6	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*335A>G	19.37:g.55525954T>C		Somatic	0	25	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	Q9HCN7|Q9UIF2	Silent	SNP							smart_Ig_sub,smart_Ig_sub2	p.G453	ENST00000417454.1	37	c.1359	CCDS46184.1	19																																																																																			-	NULL		0.542	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	protein_coding	OTTHUMT00000357006.1	T		-		55525954	-1	no_errors	ENST00000310373	ensembl	human	known	74_37	silent	SNP	0.000	C	C	55525954	T	C	55525954	1	2	179	0	1	0	0	0	0	0	0	0	6586	1422	50	5		5	GP6	19	55525954	3'UTR	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	31454	55525954	3603029	117	12630											
NLRP13	126204	genome.wustl.edu	37	chr19	56419196	56419196	+	Frame_Shift_Del	DEL	T	T	-													caagctgagtgtctcaaagcTttaagaatcagggggacagt							TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:56419196delT	ENST00000342929.3	-	7	2408	c.2409delA	c.(2407-2409)aaafs	p.K803fs	NLRP13_ENST00000588751.1_Frame_Shift_Del_p.K803fs	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	803							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTCTCAAAGCTTTAAGAATCA	0.493																																																	0								ENSG00000173572						128	115	119					19																	56419196		2203	4300	6503	NLRP13	SO:0001589	frameshift_variant	0				HGNC	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2409delA	19.37:g.56419196delT	ENSP00000343891:p.Lys803fs	Somatic	0	20	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q7RTR5	Frame_Shift_Del	DEL							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A804fs	ENST00000342929.3	37	c.2409	CCDS33119.1	19																																																																																			-	NULL		0.493	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	T	NM_176810			56419196	-1	no_errors	ENST00000342929	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	56419196	T	-	56419196	7	5	179	1	0	1	0	1	0	0	0	0	10477	1606	56	0	740	0	NLRP13	19	56419196	Frame_Shift_Del	DEL	T	TCGA-LI-A9QH-01A-11D-A37C-09	893242	56419196	2709787	118	12631											
ZNF274	10782	genome.wustl.edu	37	chr19	58723009	58723009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacagaggaccgagtaCcgcgatgtgatgctggagac	14	11	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr19:58723009C>T	ENST00000326804.4	+	8	1392	c.933C>T	c.(931-933)taC>taT	p.Y311Y	ZNF274_ENST00000424679.2_Silent_p.Y206Y|ZNF274_ENST00000345813.3_Silent_p.Y279Y|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	312	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGACCGAGTACCGCGATGTGA	0.617																																																	0								ENSG00000171606						105	121	116					19																	58723009		2197	4300	6497	ZNF274	SO:0001819	synonymous_variant	0			-	HGNC	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.933C>T	19.37:g.58723009C>T		Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	2	91.30	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP							pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Y311	ENST00000326804.4	37	c.933		19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.617	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	protein_coding		C	NM_133502	-		58723009	1	no_errors	ENST00000326804	ensembl	human	known	74_37	silent	SNP	0.994	T	T	58723009	C	T	58723009	2	4	179	1	0	0	0	0	0	0	0	1	17816	518	18	2		2	ZNF274	19	58723009	Silent	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	2303813	58723009	405974	119	12632											
TIAM1	7074	genome.wustl.edu	37	chr21	32598231	32598231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggcagagtggatggcGgtgatccagttttcaagctc	15	9	1	2	rs143707356	byFrequency	TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr21:32598231G>A	ENST00000286827.3	-	8	2091	c.1620C>T	c.(1618-1620)acC>acT	p.T540T	TIAM1_ENST00000541036.1_Silent_p.T540T|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	540	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTGGATGGCGGTGATCCAGT	0.527																																																	0								ENSG00000156299	G		8,4398	14.3+/-33.2	0,8,2195	82	80	81		1620	-4	1	21	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	TIAM1	NM_003253.2		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		540/1592	32598231	8,12998	2203	4300	6503	TIAM1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1620C>T	21.37:g.32598231G>A		Somatic	0	22	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	0	100.00	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.T540	ENST00000286827.3	37	c.1620	CCDS13609.1	21																																																																																			-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	protein_coding	OTTHUMT00000192552.1	G	NM_003253	rs143707356		32598231	-1	no_errors	ENST00000286827	ensembl	human	known	74_37	silent	SNP	0.327	A	A	32598231	G	A	32598231	2	1	179	1	0	0	0	0	0	0	0	1	15897	1103	39	1		1	TIAM1	21	32598231	Silent	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		32598231	15531664	120	12633											
DIP2A	23181	genome.wustl.edu	37	chr21	47976337	47976337	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggggcgtggtggctcacgcCtgtaatcccagcacttcggg	15	13	1	0			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr21:47976337C>G	ENST00000417564.2	+	29	3519				DIP2A_ENST00000427143.2_Missense_Mutation_p.L1110V|DIP2A_ENST00000318711.7_Intron|DIP2A_ENST00000400274.1_Intron			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)						multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		tggctcacgcctgtaatccca	0.512																																																	0								ENSG00000160305						104	96	98					21																	47976337		692	1591	2283	DIP2A	SO:0001627	intron_variant	0			-	HGNC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3498+333C>G	21.37:g.47976337C>G		Somatic	0	17	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	2	77.78	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.L1110V	ENST00000417564.2	37	c.3328	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	5.890	0.348238	0.11126	.	.	ENSG00000160305	ENST00000427143	T	0.22743	1.94	0.839	-0.136	0.13473	.	.	.	.	.	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	P	0.35923	0.528	B	0.41374	0.355	T	0.30736	-0.9968	9	0.21540	T	0.41	.	3.3267	0.07070	0.0:0.6833:0.0:0.3167	.	1110	E7EMA5	.	V	1110	ENSP00000400528:L1110V	ENSP00000400528:L1110V	L	+	1	2	DIP2A	46800765	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	-1.209000	0.03002	-0.057000	0.13199	-0.643000	0.03959	CTG	-	NULL		0.512	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	protein_coding	OTTHUMT00000376736.1	C	NM_015151	-		47976337	1	no_errors	ENST00000427143	ensembl	human	known	74_37	missense	SNP	0.004	G	G	47976337	C	G	47976337	1	3	179	0	1	0	0	0	0	0	0	0	4529	680	24	4		4	DIP2A	21	47976337	Intron	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	15378106	47976337	153558	121	12634											
POTEH	23784	genome.wustl.edu	37	chr22	16287369	16287369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtccagatcttctcgacGgacgtggtacctcggctcca	10	14	2	1	rs371550897		TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr22:16287369G>A	ENST00000343518.6	-	1	568	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	173										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCTTCTCGACGGACGTGGTAC	0.572																																																	0								ENSG00000198062	G	CYS/ARG	0,3944		0,0,1972	36	42	40		517	-0.1	0	22		40	3,7471		0,3,3734	no	missense	POTEH	NM_001136213.1	180	0,3,5706	AA,AG,GG		0.0401,0.0,0.0263	benign	173/546	16287369	3,11415	1972	3737	5709	POTEH	SO:0001583	missense	0			-	HGNC	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.517C>T	22.37:g.16287369G>A	ENSP00000340610:p.Arg173Cys	Somatic	0	117	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	229	14.55	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R173C	ENST00000343518.6	37	c.517	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	6.286	0.420827	0.11928	0.0	4.01E-4	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.53423	0.62	1.38	-0.111	0.13576	.	.	.	.	.	T	0.34424	0.0897	L	0.40543	1.245	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.27297	-1.0078	9	0.46703	T	0.11	.	5.7857	0.18333	0.0:0.4917:0.5082:0.0	.	173	Q6S545	POTEH_HUMAN	C	136;173;173	ENSP00000340610:R173C	ENSP00000340610:R173C	R	-	1	0	POTEH	14667369	0.005000	0.15991	0.001000	0.08648	0.117000	0.20001	0.161000	0.16481	0.048000	0.15891	0.152000	0.16155	CGT	-	NULL		0.572	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	protein_coding	OTTHUMT00000276918.4	G	NM_001136213	-		16287369	-1	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	SNP	0.001	A	A	16287369	G	A	16287369	3	1	179	1	0	0	0	0	1	0	0	0	12269	1116	39	1	1160	1	POTEH	22	16287369	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		16287369	35017197	122	12635											
MYO18B	84700	genome.wustl.edu	37	chr22	26164343	26164343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgaggaggggtgatgtgTtgttgatggtggccaagctg	20	4	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr22:26164343T>C	ENST00000407587.2	+	4	629	c.460T>C	c.(460-462)Ttg>Ctg	p.L154L	MYO18B_ENST00000335473.7_Silent_p.L154L|MYO18B_ENST00000536101.1_Silent_p.L154L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	154						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						GGGTGATGTGTTGTTGATGGT	0.597																																																	0								ENSG00000133454						34	41	38					22																	26164343		2048	4197	6245	MYO18B	SO:0001819	synonymous_variant	0			-	HGNC	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.460T>C	22.37:g.26164343T>C		Somatic	0	52	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	70	11.39	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L154	ENST00000407587.2	37	c.460		22																																																																																			-	superfamily_Ribosomal_zn-bd		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	T	NM_032608	-		26164343	1	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	SNP	0.007	C	C	26164343	T	C	26164343	2	2	179	1	0	0	0	0	0	0	0	1	10068	1722	60	5		5	MYO18B	22	26164343	Silent	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	9876974	26164343	25140223	123	12636											
C22orf30	253143	genome.wustl.edu	37	chr22	32134586	32134586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccacatcgcccaggctcActcccatgatccaaggtctc	7	18	2	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr22:32134586A>G	ENST00000327423.6	-	2	450	c.261T>C	c.(259-261)agT>agC	p.S87S	PRR14L_ENST00000434485.1_Silent_p.S87S|PRR14L_ENST00000397493.2_Silent_p.S87S|PRR14L_ENST00000461722.1_Intron	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	87										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCCCAGGCTCACTCCCATGAT	0.527																																																	0								ENSG00000183530						120	104	109					22																	32134586		692	1591	2283	PRR14L	SO:0001819	synonymous_variant	0			-	HGNC	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.261T>C	22.37:g.32134586A>G		Somatic	0	25	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Silent	SNP							NULL	p.S87	ENST00000327423.6	37	c.261	CCDS13900.2	22																																																																																			-	NULL		0.527	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	protein_coding	OTTHUMT00000074993.2	A	NM_173566	-		32134586	-1	no_errors	ENST00000397493	ensembl	human	known	74_37	silent	SNP	0.024	G	G	32134586	A	G	32134586	2	3	179	1	0	0	0	0	0	0	0	1	2144	156	6	5		5	C22orf30	22	32134586	Silent	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	5970243	32134586	19169980	124	12637											
IL2RB	3560	genome.wustl.edu	37	chr22	37532384	37532384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtctggggtgagcgtcTccaggcagatccattcctgc	15	11	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr22:37532384T>C	ENST00000216223.5	-	7	785	c.587A>G	c.(586-588)gAg>gGg	p.E196G	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	196	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGTGAGCGTCTCCAGGCAGAT	0.642																																																	0								ENSG00000100385						36	37	37					22																	37532384		2203	4300	6503	IL2RB	SO:0001583	missense	0			-	HGNC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.587A>G	22.37:g.37532384T>C	ENSP00000216223:p.Glu196Gly	Somatic	0	48	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	73	14.12	B2R765	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E196G	ENST00000216223.5	37	c.587	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896063	0.52121	.	.	ENSG00000100385	ENST00000216223	D	0.96992	-4.2	4.74	3.65	0.41850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.525534	0.20502	N	0.091061	D	0.96806	0.8957	M	0.68593	2.085	0.23693	N	0.997093	D	0.76494	0.999	D	0.68943	0.961	D	0.91083	0.4901	10	0.27082	T	0.32	-19.6258	9.2851	0.37753	0.0:0.0:0.1805:0.8195	.	196	P14784	IL2RB_HUMAN	G	196	ENSP00000216223:E196G	ENSP00000216223:E196G	E	-	2	0	IL2RB	35862330	0.988000	0.35896	0.990000	0.47175	0.315000	0.28087	2.286000	0.43496	1.756000	0.51951	0.379000	0.24179	GAG	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	protein_coding	OTTHUMT00000318792.1	T		-		37532384	-1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	SNP	0.432	C	C	37532384	T	C	37532384	3	2	179	1	0	0	0	0	1	0	0	0	7689	1551	54	5	1084	5	IL2RB	22	37532384	Missense_Mutation	SNP	T	TCGA-LI-A9QH-01A-11D-A37C-09	5397798	37532384	13772182	125	12638											
NPTXR	23467	genome.wustl.edu	37	chr22	39222606	39222606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagggggtgccctggcCggtgccgctggacctggacc	19	12	0	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chr22:39222606C>T	ENST00000333039.2	-	3	1120	c.997G>A	c.(997-999)Ggc>Agc	p.G333S		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	333	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GTGCCCTGGCCGGTGCCGCTG	0.632																																					Pancreas(139;2521 3281 36965)												0								ENSG00000221890						70	67	68					22																	39222606		2203	4300	6503	NPTXR	SO:0001583	missense	0			-	HGNC	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.997G>A	22.37:g.39222606C>T	ENSP00000327545:p.Gly333Ser	Somatic	0	33	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29		Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G333S	ENST00000333039.2	37	c.997	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229168	0.79688	.	.	ENSG00000221890	ENST00000333039	T	0.06768	3.26	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	L	0.60957	1.885	0.45822	D	0.998690	D	0.76494	0.999	D	0.68039	0.955	T	0.03641	-1.1017	9	0.72032	D	0.01	-54.3521	11.8698	0.52513	0.135:0.7342:0.1308:0.0	.	333	O95502	NPTXR_HUMAN	S	333	ENSP00000327545:G333S	ENSP00000327545:G333S	G	-	1	0	NPTXR	37552552	1.000000	0.71417	0.971000	0.41717	0.525000	0.34531	4.604000	0.61112	2.861000	0.98227	0.655000	0.94253	GGC	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.632	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	protein_coding	OTTHUMT00000318194.2	C	NM_014293	-		39222606	-1	no_errors	ENST00000333039	ensembl	human	known	74_37	missense	SNP	0.996	T	T	39222606	C	T	39222606	3	4	179	1	0	0	0	0	1	0	0	0	10606	652	23	1	517	1	NPTXR	22	39222606	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	1690222	39222606	12081960	126	12639											
CYBB	1536	genome.wustl.edu	37	chrX	37663304	37663304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtatccatatccgcatcGttggggactggacagagggg	14	8	0	1			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chrX:37663304G>A	ENST00000378588.4	+	9	1139	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	CYBB_ENST00000536160.1_Missense_Mutation_p.V91I|CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V326I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	358	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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.V358L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TATCCGCATCGTTGGGGACTG	0.468																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000165168						79	75	76					X																	37663304		2202	4300	6502	CYBB	SO:0001583	missense	0			-	HGNC	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.1072G>A	X.37:g.37663304G>A	ENSP00000367851:p.Val358Ile	Somatic	0	60	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	41.38	A8K138|Q2PP16	Missense_Mutation	SNP							pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.V358I	ENST00000378588.4	37	c.1072	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006382	0.93287	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.94457	-3.43;-3.43;-3.43	5.77	5.77	0.91146	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.88775	2.98	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.60886	0.85;0.88	D	0.97936	1.0323	10	0.72032	D	0.01	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	326;358	F5GWD2;P04839	.;CY24B_HUMAN	I	358;326;91	ENSP00000367851:V358I;ENSP00000441896:V326I;ENSP00000441958:V91I	ENSP00000367851:V358I	V	+	1	0	CYBB	37548248	1.000000	0.71417	0.870000	0.34147	0.876000	0.50452	9.476000	0.97823	2.430000	0.82344	0.544000	0.68410	GTT	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.468	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	protein_coding	OTTHUMT00000080881.1	G		-		37663304	1	no_errors	ENST00000378588	ensembl	human	known	74_37	missense	SNP	0.997	A	A	37663304	G	A	37663304	3	1	179	1	0	0	0	0	1	0	0	0	4135	1145	40	1	1106	1	CYBB	23	37663304	Missense_Mutation	SNP	G	TCGA-LI-A9QH-01A-11D-A37C-09		37663304	117607256	127	12640											
UBQLN2	29978	genome.wustl.edu	37	chrX	56590841	56590841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcttatggccagcCctgagatgatgatccaaata	10	10	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chrX:56590841C>A	ENST00000338222.5	+	1	816	c.535C>A	c.(535-537)Cct>Act	p.P179T		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	179					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TATGGCCAGCCCTGAGATGAT	0.527																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0								ENSG00000188021						67	67	67					X																	56590841		2203	4300	6503	UBQLN2	SO:0001583	missense	0			-	HGNC	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.535C>A	X.37:g.56590841C>A	ENSP00000345195:p.Pro179Thr	Somatic	0	20	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	6	66.67	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP							pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.P179T	ENST00000338222.5	37	c.535	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039889	0.35989	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.84800	-1.9	4.79	4.79	0.61399	Heat shock chaperonin-binding (1);	0.000000	0.64402	D	0.000003	D	0.92776	0.7703	M	0.87971	2.92	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93455	0.6805	10	0.56958	D	0.05	-5.8075	14.4648	0.67477	0.0:1.0:0.0:0.0	.	179;179	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	T	179	ENSP00000345195:P179T	ENSP00000345195:P179T	P	+	1	0	UBQLN2	56607566	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.604000	0.82830	2.384000	0.81235	0.600000	0.82982	CCT	-	smart_STI1_HS-bd		0.527	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	protein_coding	OTTHUMT00000056891.1	C	NM_013444	-		56590841	1	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56590841	C	A	56590841	3	1	179	1	0	0	0	0	1	0	0	0	16904	623	22	3	537	3	UBQLN2	23	56590841	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	18927537	56590841	98679719	128	12641											
TEX11	56159	genome.wustl.edu	37	chrX	69849586	69849586	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtaattattgcctgcaaagCtgaaaaacaagaaaaaaatt	6	5	0	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chrX:69849586C>G	ENST00000395889.2	-	19	1684		c.e19-1		TEX11_ENST00000344304.3_Splice_Site|TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000374333.2_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11						chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GCCTGCAAAGCTGAAAAACAA	0.294																																																	0								ENSG00000120498						54	50	51					X																	69849586		2203	4300	6503	TEX11	SO:0001630	splice_region_variant	0			-	HGNC	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1529-1G>C	X.37:g.69849586C>G		Somatic	0	30	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	64	20.00	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Splice_Site	SNP							-	e17-1	ENST00000395889.2	37	c.1529-1	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980725	0.18812	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	3.77	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7717	0.29012	0.2494:0.7506:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEX11	69766311	1.000000	0.71417	0.808000	0.32385	0.037000	0.13140	3.458000	0.53014	0.731000	0.32448	-0.385000	0.06624	.	-	-		0.294	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	protein_coding	OTTHUMT00000359072.1	C		-	Intron	69849586	-1	no_errors	ENST00000344304	ensembl	human	known	74_37	splice_site	SNP	0.787	G	G	69849586	C	G	69849586	5	3	179	1	0	0	0	0	0	0	1	0	15781	811	28	4	1346	4	TEX11	23	69849586	Splice_Site	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	13258745	69849586	85420974	129	12642											
IRS4	8471	genome.wustl.edu	37	chrX	107977403	107977403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttttttgaagcagagacAttttgaggagccattggcat	11	7	0	3			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chrX:107977403A>C	ENST00000372129.2	-	1	2248	c.2172T>G	c.(2170-2172)aaT>aaG	p.N724K	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	724	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAGCAGAGACATTTTGAGGAG	0.502																																																	0								ENSG00000133124						78	80	79					X																	107977403		2203	4300	6503	IRS4	SO:0001583	missense	0			-	HGNC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2172T>G	X.37:g.107977403A>C	ENSP00000361202:p.Asn724Lys	Somatic	0	35	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38		Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.N724K	ENST00000372129.2	37	c.2172	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	A	13.34	2.206707	0.39003	.	.	ENSG00000133124	ENST00000372129	T	0.16073	2.37	5.33	1.27	0.21489	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	L	0.57536	1.79	0.09310	N	0.999998	P	0.34462	0.454	B	0.21917	0.037	T	0.10660	-1.0620	10	0.54805	T	0.06	-9.756	9.304	0.37863	0.6639:0.0:0.3361:0.0	.	724	O14654	IRS4_HUMAN	K	724	ENSP00000361202:N724K	ENSP00000361202:N724K	N	-	3	2	IRS4	107864059	0.944000	0.32072	0.097000	0.21041	0.966000	0.64601	1.632000	0.37102	-0.035000	0.13691	0.486000	0.48141	AAT	-	NULL		0.502	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	A	NM_003604	-		107977403	-1	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	SNP	0.100	C	C	107977403	A	C	107977403	3	2	179	1	0	0	0	0	1	0	0	0	7844	214	8	5	1605	5	IRS4	23	107977403	Missense_Mutation	SNP	A	TCGA-LI-A9QH-01A-11D-A37C-09	38127817	107977403	47293157	130	12643											
LRCH2	57631	genome.wustl.edu	37	chrX	114347861	114347861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caccaactttcacaagtcctCgttcttccaaaatatgatga	4	12	2	2			TCGA-LI-A9QH-01A-11D-A37C-09	TCGA-LI-A9QH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54cb564e-9e29-443c-a113-aeba455a038d	92b531bd-cb9f-4317-b419-14a32eb8ad6a	g.chrX:114347861C>G	ENST00000317135.8	-	21	2246	c.2216G>C	c.(2215-2217)cGa>cCa	p.R739P	LRCH2_ENST00000538422.1_Missense_Mutation_p.R722P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	739	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CACAAGTCCTCGTTCTTCCAA	0.343																																																	0								ENSG00000130224						62	55	57					X																	114347861		1834	4069	5903	LRCH2	SO:0001583	missense	0			-	HGNC	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2216G>C	X.37:g.114347861C>G	ENSP00000325091:p.Arg739Pro	Somatic	0	71	0		0.721293221086279				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	30	54.55	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R739P	ENST00000317135.8	37	c.2216	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715854	0.68844	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.94650	-3.48;-3.48	5.52	5.52	0.82312	Calponin homology domain (5);	.	.	.	.	D	0.97636	0.9225	M	0.88105	2.93	0.54753	D	0.999986	D;D	0.76494	0.999;0.983	D;P	0.87578	0.998;0.854	D	0.98368	1.0552	9	0.66056	D	0.02	2.7416	16.8514	0.85995	0.0:1.0:0.0:0.0	.	739;722	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	P	739;218;722	ENSP00000325091:R739P;ENSP00000439366:R722P	ENSP00000325091:R739P	R	-	2	0	LRCH2	114254117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.118000	0.77137	2.291000	0.77112	0.600000	0.82982	CGA	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.343	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	protein_coding	OTTHUMT00000057971.2	C	NM_020871	-		114347861	-1	no_errors	ENST00000317135	ensembl	human	known	74_37	missense	SNP	1.000	G	G	114347861	C	G	114347861	3	3	179	1	0	0	0	0	1	0	0	0	8935	884	31	4	85	4	LRCH2	23	114347861	Missense_Mutation	SNP	C	TCGA-LI-A9QH-01A-11D-A37C-09	6370458	114347861	40922699	131	12644											
MAP7D1	55700	genome.wustl.edu	37	chr1	36644133	36644133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcttggctgagaagcggCgccaggcccgggagcagcgg	19	12	1	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:36644133C>T	ENST00000373151.2	+	10	2038	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	MAP7D1_ENST00000373150.4_Missense_Mutation_p.R576C|MAP7D1_ENST00000373148.4_Missense_Mutation_p.R145C|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R571C	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	608					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				TGAGAAGCGGCGCCAGGCCCG	0.697																																																	0								ENSG00000116871						12	17	16					1																	36644133		2194	4285	6479	MAP7D1	SO:0001583	missense	0			-	HGNC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1822C>T	1.37:g.36644133C>T	ENSP00000362244:p.Arg608Cys	Somatic	0	50	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	12	68.42	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP							pfam_MAP7	p.R608C	ENST00000373151.2	37	c.1822	CCDS30673.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.957020|3.957020	0.73902|0.73902	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000530975|ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148	.|T;T;T;T	.|0.38401	.|1.14;1.14;1.14;1.14	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.379499	.|0.19576	.|N	.|0.110966	T|T	0.67040|0.67040	0.2851|0.2851	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.998;0.999	T|T	0.73933|0.73933	-0.3826|-0.3826	5|10	.|0.87932	.|D	.|0	-5.1069|-5.1069	16.6044|16.6044	0.84824|0.84824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145;608;571;576;608	.|Q3KQU3-3;D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.|.;.;.;.;MA7D1_HUMAN	V|C	181|571;576;608;145	.|ENSP00000320228:R571C;ENSP00000362243:R576C;ENSP00000362244:R608C;ENSP00000362241:R145C	.|ENSP00000320228:R571C	A|R	+|+	2|1	0|0	MAP7D1|MAP7D1	36416720|36416720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.822000|2.822000	0.48073|0.48073	2.490000|2.490000	0.84030|0.84030	0.563000|0.563000	0.77884|0.77884	GCG|CGC	-	pfam_MAP7		0.697	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	protein_coding	OTTHUMT00000382095.1	C	NM_018067	-		36644133	1	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36644133	C	T	36644133	3	4	180	1	0	0	0	0	1	0	0	0	9269	768	27	1	1860	1	MAP7D1	1	36644133	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09		36644133	212606488	1	12645											
WNT2B	7482	genome.wustl.edu	37	chr1	113057686	113057686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaccctggaccgggacCacaccgtctttggccgtgtc	11	16	1	0			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:113057686C>A	ENST00000369684.4	+	2	858	c.373C>A	c.(373-375)Cac>Aac	p.H125N	WNT2B_ENST00000256640.5_Missense_Mutation_p.H33N|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.H106N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	125					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		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)		GGACCGGGACCACACCGTCTT	0.587																																																	0								ENSG00000134245						77	56	63					1																	113057686		2203	4300	6503	WNT2B	SO:0001583	missense	0			-	HGNC	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.373C>A	1.37:g.113057686C>A	ENSP00000358698:p.His125Asn	Somatic	0	32	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.H125N	ENST00000369684.4	37	c.373	CCDS847.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992043	0.35131	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75260	-0.86;-0.92;-0.82	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	N	0.26130	0.795	0.80722	D	1	P;P	0.42908	0.664;0.793	P;B	0.45538	0.484;0.352	T	0.57213	-0.7850	10	0.15952	T	0.53	.	18.2577	0.90024	0.0:1.0:0.0:0.0	.	125;106	Q93097;Q93097-2	WNT2B_HUMAN;.	N	33;106;125	ENSP00000256640:H33N;ENSP00000358700:H106N;ENSP00000358698:H125N	ENSP00000256640:H33N	H	+	1	0	WNT2B	112859209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.959000	0.70339	2.474000	0.83562	0.561000	0.74099	CAC	-	pfam_Wnt,smart_Wnt,prints_Wnt2		0.587	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	protein_coding	OTTHUMT00000030692.1	C	NM_004185	-		113057686	1	no_errors	ENST00000369684	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113057686	C	A	113057686	3	1	180	1	0	0	0	0	1	0	0	0	17394	594	21	3	512	3	WNT2B	1	113057686	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	76413553	113057686	136192935	2	12646											
PIGC	5279	genome.wustl.edu	37	chr1	172411323	172411323	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatggcatagatggtgTcagtgctgacagactctgta	12	8	2	4			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:172411323T>A	ENST00000367728.1	-	1	1903	c.440A>T	c.(439-441)gAc>gTc	p.D147V	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.D147V|PIGC_ENST00000344529.4_Missense_Mutation_p.D147V|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	147					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATAGATGGTGTCAGTGCTGAC	0.478																																																	0								ENSG00000135845						66	58	61					1																	172411323		2203	4300	6503	PIGC	SO:0001583	missense	0			-	HGNC	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.440A>T	1.37:g.172411323T>A	ENSP00000356702:p.Asp147Val	Somatic	0	16	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	O14491	Missense_Mutation	SNP							pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2	p.D147V	ENST00000367728.1	37	c.440	CCDS1302.1	1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190050	0.78789	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.71341	-0.56;-0.56;-0.56	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.91140	3.18	0.80722	D	1	P	0.50617	0.937	P	0.46940	0.532	T	0.82416	-0.0468	10	0.87932	D	0	-30.8042	13.6827	0.62496	0.0:0.0:0.0:1.0	.	147	Q92535	PIGC_HUMAN	V	147	ENSP00000356701:D147V;ENSP00000356702:D147V;ENSP00000258324:D147V	ENSP00000258324:D147V	D	-	2	0	PIGC	170677946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.528000	0.81941	1.917000	0.55516	0.528000	0.53228	GAC	-	pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2		0.478	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	protein_coding	OTTHUMT00000084068.1	T	NM_153747	-		172411323	-1	no_errors	ENST00000258324	ensembl	human	known	74_37	missense	SNP	1.000	A	A	172411323	T	A	172411323	3	1	180	1	0	0	0	0	1	0	0	0	11888	1667	58	5	457	5	PIGC	1	172411323	Missense_Mutation	SNP	T	TCGA-MB-A5Y8-01A-11D-A29N-09	59353637	172411323	76839298	3	12647											
TPR	7175	genome.wustl.edu	37	chr1	186314755	186314755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgctgctcattacttaaaGctgtgcttgctctctgaaga	8	10	2	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr1:186314755G>T	ENST00000367478.4	-	24	3466	c.3170C>A	c.(3169-3171)gCt>gAt	p.A1057D		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1057					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTACTTAAAGCTGTGCTTGC	0.378			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0								ENSG00000047410						182	166	171					1																	186314755		1911	4126	6037	TPR	SO:0001583	missense	0			-	HGNC	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3170C>A	1.37:g.186314755G>T	ENSP00000356448:p.Ala1057Asp	Somatic	0	33	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP							pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.A1057D	ENST00000367478.4	37	c.3170	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007680	0.93287	.	.	ENSG00000047410	ENST00000367478	T	0.28454	1.61	5.31	5.31	0.75309	Tetratricopeptide, MLP1/MLP2-like (1);	0.152745	0.64402	D	0.000017	T	0.50548	0.1622	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	D	0.65233	0.933	T	0.33727	-0.9857	10	0.35671	T	0.21	.	19.3605	0.94436	0.0:0.0:1.0:0.0	.	1057	P12270	TPR_HUMAN	D	1057	ENSP00000356448:A1057D	ENSP00000356448:A1057D	A	-	2	0	TPR	184581378	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.857000	0.92250	2.630000	0.89119	0.650000	0.86243	GCT	-	pfam_TPR_MLP1_2		0.378	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	protein_coding	OTTHUMT00000086353.2	G	NM_003292	-		186314755	-1	no_errors	ENST00000367478	ensembl	human	known	74_37	missense	SNP	1.000	T	T	186314755	G	T	186314755	3	4	180	1	0	0	0	0	1	0	0	0	16423	971	34	3	4033	3	TPR	1	186314755	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	13903432	186314755	62935866	4	12648											
TET3	200424	genome.wustl.edu	37	chr2	74274511	74274511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcctaccaagcccaaGgtcaaggtggaggcaccctc	11	16	1	0			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr2:74274511G>T	ENST00000409262.3	+	1	1062	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	354					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAAGCCCAAGGTCAAGGTGG	0.642																																																	0								ENSG00000187605						34	39	37					2																	74274511		2022	4171	6193	TET3	SO:0001583	missense	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1062G>T	2.37:g.74274511G>T	ENSP00000386869:p.Lys354Asn	Somatic	0	35	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP							NULL	p.K354N	ENST00000409262.3	37	c.1062	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	4.990	0.183791	0.09495	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.27890	1.64;2.54	5.18	3.34	0.38264	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.26556	N	0.973818	B	0.24618	0.107	B	0.18263	0.021	T	0.21621	-1.0240	9	0.20046	T	0.44	.	6.4226	0.21752	0.166:0.0:0.6839:0.15	.	354	O43151	TET3_HUMAN	N	396;354;354	ENSP00000307803:K396N;ENSP00000386869:K354N	ENSP00000233310:K354N	K	+	3	2	TET3	74128019	0.986000	0.35501	0.998000	0.56505	0.895000	0.52256	0.979000	0.29500	1.303000	0.44873	0.655000	0.94253	AAG	-	NULL		0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	G		-		74274511	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	SNP	0.995	T	T	74274511	G	T	74274511	3	4	180	1	0	0	0	0	1	0	0	0	15778	991	35	3	1064	3	TET3	2	74274511	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		74274511	168924862	5	12649											
PTPN4	5775	genome.wustl.edu	37	chr2	120690023	120690023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaagtaagcccttggcacGgaaattaatggattgggaag	12	8	0	0	rs532212706	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr2:120690023G>T	ENST00000263708.2	+	14	1865	c.1094G>T	c.(1093-1095)cGg>cTg	p.R365L	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	365					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCCTTGGCACGGAAATTAATG	0.353																																																	0								ENSG00000088179						59	55	56					2																	120690023		2203	4300	6503	PTPN4	SO:0001583	missense	0			-	HGNC		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1094G>T	2.37:g.120690023G>T	ENSP00000263708:p.Arg365Leu	Somatic	0	26	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	16.67	B2RBV8|Q9UDA7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R365L	ENST00000263708.2	37	c.1094	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546490	0.86022	.	.	ENSG00000088179	ENST00000263708	T	0.73575	-0.76	5.1	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	M	0.79693	2.465	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.87512	0.2440	10	0.51188	T	0.08	.	16.0218	0.80503	0.0:0.1345:0.8655:0.0	.	365	P29074	PTN4_HUMAN	L	365	ENSP00000263708:R365L	ENSP00000263708:R365L	R	+	2	0	PTPN4	120406493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.675000	0.61619	1.267000	0.44247	0.563000	0.77884	CGG	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.353	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	protein_coding	OTTHUMT00000254233.2	G		-		120690023	1	no_errors	ENST00000263708	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120690023	G	T	120690023	3	4	180	1	0	0	0	0	1	0	0	0	12798	1116	39	3	1144	3	PTPN4	2	120690023	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	46415512	120690023	122509350	6	12650											
DARS	1615	genome.wustl.edu	37	chr2	136742985	136742985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacccacttccgccgcgtcCatgatctcccgcggcttctc	7	19	2	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr2:136742985C>A	ENST00000264161.4	-	1	269	c.54G>T	c.(52-54)atG>atT	p.M18I	AC093391.2_ENST00000419808.1_RNA|DARS_ENST00000537273.1_5'UTR|AC093391.2_ENST00000438432.1_RNA|AC093391.2_ENST00000444406.1_RNA|AC093391.2_ENST00000446492.1_RNA	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	18					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CCGCCGCGTCCATGATCTCCC	0.697																																																	0								ENSG00000115866						43	48	46					2																	136742985		2203	4300	6503	DARS	SO:0001583	missense	0			-	HGNC	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.54G>T	2.37:g.136742985C>A	ENSP00000264161:p.Met18Ile	Somatic	0	111	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	71	37.17	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP							pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA_synthase	p.M18I	ENST00000264161.4	37	c.54	CCDS2180.1	2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325285	0.60743	.	.	ENSG00000115866	ENST00000264161	D	0.82081	-1.57	4.83	4.83	0.62350	.	0.442639	0.27384	N	0.019619	T	0.67942	0.2947	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64829	-0.6315	10	0.44086	T;T	0.13;0.13	-7.7323	13.3107	0.60378	0.0:1.0:0.0:0.0	.	18	P14868	SYDC_HUMAN	I	18	ENSP00000264161:M18I	ENSP00000264161:M18I;ENSP00000264161:M18I	M	-	3	0	DARS	136459455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.683000	0.54663	2.500000	0.84329	0.467000	0.42956	ATG	-	NULL		0.697	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS	protein_coding	OTTHUMT00000254660.5	C	NM_001349	-		136742985	-1	no_errors	ENST00000264161	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136742985	C	A	136742985	3	1	180	1	0	0	0	0	1	0	0	0	4243	594	21	3	1515	3	DARS	2	136742985	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	16052962	136742985	106456388	7	12651											
DLX1	1745	genome.wustl.edu	37	chr2	172952850	172952850	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgctggctccccaccCgtgccgcccggctggaaccc	11	20	1	0	rs200336628	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr2:172952850C>G	ENST00000361725.4	+	3	1085	c.633C>G	c.(631-633)ccC>ccG	p.P211P	DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	211					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTCCCCACCCGTGCCGCCCG	0.627																																																	0								ENSG00000144355						65	77	73					2																	172952850		2203	4300	6503	DLX1	SO:0001819	synonymous_variant	0			-	HGNC	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"Homeoboxes / ANTP class : NKL subclass"	2914	protein-coding gene	gene with protein product		600029	"distal-less homeo box 1"			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.633C>G	2.37:g.172952850C>G		Somatic	0	47	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P211	ENST00000361725.4	37	c.633	CCDS2247.2	2																																																																																			-	NULL		0.627	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX1	protein_coding	OTTHUMT00000405916.1	C	XM_087198	-		172952850	1	no_errors	ENST00000361725	ensembl	human	known	74_37	silent	SNP	0.001	G	G	172952850	C	G	172952850	2	3	180	1	0	0	0	0	0	0	0	1	4572	639	23	4		4	DLX1	2	172952850	Silent	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	36209865	172952850	70246523	8	12652											
MYH15	22989	genome.wustl.edu	37	chr3	108174661	108174661	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagctgcttttctgctgctCacaaacttgctctttggaaa	7	11	4	0			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:108174661C>A	ENST00000273353.3	-	21	2300	c.2244G>T	c.(2242-2244)gtG>gtT	p.V748V	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	748	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						TTCTGCTGCTCACAAACTTGC	0.363																																																	0								ENSG00000144821						164	154	157					3																	108174661		1851	4085	5936	MYH15	SO:0001819	synonymous_variant	0			-	HGNC	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.2244G>T	3.37:g.108174661C>A		Somatic	0	47	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71		Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.V748	ENST00000273353.3	37	c.2244	CCDS43127.1	3																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.363	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	C	XM_036988	-		108174661	-1	no_errors	ENST00000273353	ensembl	human	known	74_37	silent	SNP	0.632	A	A	108174661	C	A	108174661	2	1	180	1	0	0	0	0	0	0	0	1	10036	813	29	3		3	MYH15	3	108174661	Silent	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09		108174661	89847769	9	12653											
SHOX2	6474	genome.wustl.edu	37	chr3	157820535	157820535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaaggcgtcgggatagtGggtctcgtcaaaaagcctct	13	9	3	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:157820535G>T	ENST00000425436.3	-	2	512	c.487C>A	c.(487-489)Cac>Aac	p.H163N	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.H187N|SHOX2_ENST00000441443.2_Missense_Mutation_p.H34N|SHOX2_ENST00000490689.2_Missense_Mutation_p.H34N|SHOX2_ENST00000483851.2_Missense_Mutation_p.H163N	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	163					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCGGGATAGTGGGTCTCGTCA	0.597																																																	0								ENSG00000168779						155	127	137					3																	157820535		2203	4300	6503	SHOX2	SO:0001583	missense	0			-	HGNC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.487C>A	3.37:g.157820535G>T	ENSP00000398704:p.His163Asn	Somatic	0	64	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O60465|O60467|O60903	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.H187N	ENST00000425436.3	37	c.559	CCDS43164.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.042309|5.042309	0.93685|0.93685	.|.	.|.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851|ENST00000555977	D;D;D;D;D|.	0.95377|.	-3.69;-3.69;-3.69;-3.69;-3.69|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.059016|.	0.64402|.	D|.	0.000004|.	T|T	0.75243|0.75243	0.3823|0.3823	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.879;0.999;1.0|.	P;D;D|.	0.87578|.	0.503;0.998;0.998|.	T|T	0.73424|0.73424	-0.3987|-0.3987	10|5	0.87932|.	D|.	0|.	.|.	19.3593|19.3593	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	163;187;163|.	O60902-2;O60902-3;O60902|.	.;.;SHOX2_HUMAN|.	N|Q	187;34;163;34;34;163|66	ENSP00000398704:H187N;ENSP00000451888:H34N;ENSP00000374240:H163N;ENSP00000397099:H34N;ENSP00000419362:H163N|.	ENSP00000327294:H34N|.	H|P	-|-	1|2	0|0	SHOX2;AC112502.1|SHOX2	159303229|159303229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	CAC|CCA	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.597	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHOX2	protein_coding	OTTHUMT00000352057.2	G		-		157820535	-1	no_errors	ENST00000389589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	157820535	G	T	157820535	3	4	180	1	0	0	0	0	1	0	0	0	14297	1348	47	3	524	3	SHOX2	3	157820535	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	49645874	157820535	40201895	10	12654											
SERPINI1	5274	genome.wustl.edu	37	chr3	167508312	167508312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaatattttaatgcaGcagtaaatcatgtggacttc	7	5	1	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:167508312G>T	ENST00000295777.5	+	3	834	c.403G>T	c.(403-405)Gca>Tca	p.A135S	SERPINI1_ENST00000446050.2_Missense_Mutation_p.A135S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	135					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTTTAATGCAGCAGTAAATCA	0.363																																																	0								ENSG00000163536						115	116	116					3																	167508312		2203	4300	6503	SERPINI1	SO:0001583	missense	0			-	HGNC	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.403G>T	3.37:g.167508312G>T	ENSP00000295777:p.Ala135Ser	Somatic	0	31	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A135S	ENST00000295777.5	37	c.403	CCDS3203.1	3	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464383	0.43736	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.51	5.51	0.81932	Serpin domain (3);	0.144593	0.64402	D	0.000010	T	0.70011	0.3175	N	0.04787	-0.16	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63594	-0.6602	10	0.33141	T	0.24	.	19.4144	0.94689	0.0:0.0:1.0:0.0	.	135	Q99574	NEUS_HUMAN	S	135	ENSP00000420133:A135S;ENSP00000397373:A135S;ENSP00000295777:A135S;ENSP00000420561:A135S	ENSP00000295777:A135S	A	+	1	0	SERPINI1	168991006	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.223000	0.65283	2.586000	0.87340	0.557000	0.71058	GCA	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	protein_coding	OTTHUMT00000351056.1	G		-		167508312	1	no_errors	ENST00000295777	ensembl	human	known	74_37	missense	SNP	1.000	T	T	167508312	G	T	167508312	3	4	180	1	0	0	0	0	1	0	0	0	14126	971	34	3	409	3	SERPINI1	3	167508312	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	9687777	167508312	30514118	11	12655											
CLCN2	1181	genome.wustl.edu	37	chr3	184071063	184071063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacagaagcctcagggGtagggggaccctcctgatca	14	11	2	3	rs9820367	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:184071063G>A	ENST00000265593.4	-	17	2174	c.2003C>T	c.(2002-2004)aCc>aTc	p.T668I	CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.T624I|CLCN2_ENST00000457512.1_Missense_Mutation_p.T668I|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000344937.7_Missense_Mutation_p.T651I	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	668			T -> S (in dbSNP:rs9820367). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17762171, ECO:0000269|PubMed:7795595}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.T668S(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCCTCAGGGGTAGGGGGACC	0.617																																																	1	Substitution - Missense(1)	stomach(1)						ENSG00000114859						92	103	99					3																	184071063		2203	4300	6503	CLCN2	SO:0001583	missense	0			-	HGNC	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2003C>T	3.37:g.184071063G>A	ENSP00000265593:p.Thr668Ile	Somatic	0	60	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	15	34.31	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.T668I	ENST00000265593.4	37	c.2003	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	18.93	3.727469	0.69074	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.84944	-1.87;-1.82;-1.92;-1.9	5.62	4.72	0.59763	.	0.518488	0.23049	N	0.052518	T	0.74473	0.3721	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.20164	0.02;0.042;0.015;0.02	B;B;B;B	0.24541	0.017;0.024;0.054;0.017	T	0.70096	-0.4966	10	0.52906	T	0.07	-12.2828	8.3489	0.32290	0.0:0.6212:0.2989:0.0799	.	624;668;651;668	E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	I	668;651;624;668	ENSP00000265593:T668I;ENSP00000345056:T651I;ENSP00000400425:T624I;ENSP00000391928:T668I	ENSP00000265593:T668I	T	-	2	0	CLCN2	185553757	0.002000	0.14202	0.975000	0.42487	0.639000	0.38242	0.790000	0.26900	1.395000	0.46643	-0.215000	0.12644	ACC	-	NULL		0.617	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	protein_coding	OTTHUMT00000345571.1	G		-		184071063	-1	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	SNP	0.990	A	A	184071063	G	A	184071063	3	1	180	1	0	0	0	0	1	0	0	0	3465	1261	44	2	725	2	CLCN2	3	184071063	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	16562751	184071063	13951367	12	12656											
ETV5	2119	genome.wustl.edu	37	chr3	185797767	185797767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgggccagctgcaggGgcatgccctgaggtgggcag	18	10	0	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr3:185797767G>A	ENST00000306376.5	-	7	735	c.489C>T	c.(487-489)gcC>gcT	p.A163A	ETV5_ENST00000537818.1_Silent_p.A205A|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Silent_p.A163A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	163					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CAGCTGCAGGGGCATGCCCTG	0.637			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0								ENSG00000244405						27	34	32					3																	185797767		2199	4299	6498	ETV5	SO:0001819	synonymous_variant	0			-	HGNC	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.489C>T	3.37:g.185797767G>A		Somatic	0	33	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	A6NH46|B7Z7D7|Q6IBN5	Silent	SNP							pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.A205	ENST00000306376.5	37	c.615	CCDS33906.1	3																																																																																			-	pfam_ETS_PEA3_N		0.637	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	protein_coding	OTTHUMT00000344947.1	G	NM_004454	-		185797767	-1	no_errors	ENST00000537818	ensembl	human	known	74_37	silent	SNP	0.587	A	A	185797767	G	A	185797767	2	1	180	1	0	0	0	0	0	0	0	1	5284	1219	43	2		2	ETV5	3	185797767	Silent	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	1726704	185797767	12224663	13	12657											
OCIAD1	54940	genome.wustl.edu	37	chr4	48835496	48835496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatgaaagcttctggttcaGatgtgagttcaattttctaa	9	5	4	4			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr4:48835496G>C	ENST00000381473.3	+	3	555	c.137G>C	c.(136-138)aGa>aCa	p.R46T	OCIAD1_ENST00000444354.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000508293.1_Missense_Mutation_p.R46T|OCIAD1_ENST00000264312.7_Missense_Mutation_p.R46T|OCIAD1_ENST00000513391.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000396448.2_Missense_Mutation_p.R46T|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000425583.2_Missense_Mutation_p.R46T	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	46	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TTCTGGTTCAGATGTGAGTTC	0.333																																																	0								ENSG00000109180						50	52	52					4																	48835496		2203	4300	6503	OCIAD1	SO:0001583	missense	0			-	HGNC	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.137G>C	4.37:g.48835496G>C	ENSP00000370882:p.Arg46Thr	Somatic	0	45	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	39	40.00	C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP							pfam_OCIA	p.R46T	ENST00000381473.3	37	c.137	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352063	0.82132	.	.	ENSG00000109180	ENST00000504654;ENST00000509664;ENST00000514981;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82388	0.5026	M	0.81112	2.525	0.44890	D	0.997908	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.984;0.999	D	0.84688	0.0721	10	0.72032	D	0.01	-17.4095	15.8864	0.79251	0.0:0.0:1.0:0.0	.	46;46;46	Q9NX40-3;Q9NX40-2;Q9NX40	.;.;OCAD1_HUMAN	T	46	ENSP00000423381:R46T;ENSP00000422171:R46T;ENSP00000423845:R46T;ENSP00000424252:R46T;ENSP00000420917:R46T;ENSP00000264312:R46T;ENSP00000379725:R46T;ENSP00000426386:R46T;ENSP00000426902:R46T;ENSP00000427389:R46T;ENSP00000370882:R46T;ENSP00000399656:R46T;ENSP00000425633:R46T;ENSP00000416943:R46T;ENSP00000423002:R46T;ENSP00000423909:R46T	ENSP00000264312:R46T	R	+	2	0	OCIAD1	48530253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.398000	0.66308	2.546000	0.85860	0.655000	0.94253	AGA	-	pfam_OCIA		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	protein_coding	OTTHUMT00000361812.3	G	NM_017830	-		48835496	1	no_errors	ENST00000264312	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48835496	G	C	48835496	3	2	180	1	0	0	0	0	1	0	0	0	10819	942	33	4	162	4	OCIAD1	4	48835496	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		48835496	142318780	14	12658											
DSPP	1834	genome.wustl.edu	37	chr4	88537288	88537288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagtgacagcagcgaCagcagtgacagcagcgatag	14	10	0	2	rs368208607		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr4:88537288C>T	ENST00000282478.7	+	4	3507	c.3474C>T	c.(3472-3474)gaC>gaT	p.D1158D	DSPP_ENST00000399271.1_Silent_p.D1158D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1158	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgacagcagtgaca	0.557																																																	0								ENSG00000152591						46	59	54					4																	88537288		1591	2859	4450	DSPP	SO:0001819	synonymous_variant	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3474C>T	4.37:g.88537288C>T		Somatic	0	44	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	A8MUI0|O95815	Silent	SNP							NULL	p.D1158	ENST00000282478.7	37	c.3474	CCDS43248.1	4																																																																																			-	NULL		0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	C	NM_014208	-		88537288	1	no_errors	ENST00000282478	ensembl	human	known	74_37	silent	SNP	0.959	T	T	88537288	C	T	88537288	2	4	180	1	0	0	0	0	0	0	0	1	4784	477	17	2		2	DSPP	4	88537288	Silent	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	39701792	88537288	102616988	15	12659											
OTUD4	54726	genome.wustl.edu	37	chr4	146059742	146059742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacatcctgcaggctgccaGgtaggcctggtgcagagggt	16	10	0	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr4:146059742G>T	ENST00000447906.2	-	21	2372	c.2185C>A	c.(2185-2187)Ctg>Atg	p.L729M	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.L664M			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	729					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CAGGCTGCCAGGTAGGCCTGG	0.483																																																	0								ENSG00000164164						59	64	63					4																	146059742		2203	4297	6500	OTUD4	SO:0001583	missense	0			-	HGNC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2185C>A	4.37:g.146059742G>T	ENSP00000395487:p.Leu729Met	Somatic	0	46	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP							pfam_OTU,pfscan_OTU	p.L729M	ENST00000447906.2	37	c.2185		4	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585647	0.28268	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.38887	1.12;1.11	6.04	0.571	0.17352	.	0.324746	0.26096	N	0.026364	T	0.22859	0.0552	N	0.17082	0.46	0.80722	D	1	B;B	0.21821	0.061;0.036	B;B	0.22753	0.041;0.018	T	0.03945	-1.0990	10	0.36615	T	0.2	-1.2783	7.4244	0.27090	0.1196:0.0:0.1648:0.7157	.	729;728	G3V0I6;Q01804	.;OTUD4_HUMAN	M	664;729	ENSP00000409279:L664M;ENSP00000395487:L729M	ENSP00000395487:L729M	L	-	1	2	OTUD4	146279192	0.983000	0.35010	1.000000	0.80357	0.993000	0.82548	0.108000	0.15396	0.370000	0.24538	-0.311000	0.09066	CTG	-	NULL		0.483	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	protein_coding	OTTHUMT00000365117.2	G	NM_017493	-		146059742	-1	no_errors	ENST00000447906	ensembl	human	known	74_37	missense	SNP	0.980	T	T	146059742	G	T	146059742	3	4	180	1	0	0	0	0	1	0	0	0	11316	991	35	3	1163	3	OTUD4	4	146059742	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	57522454	146059742	45094534	16	12660											
BDP1	55814	genome.wustl.edu	37	chr5	70840897	70840897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagagagctctcaggagGttcacatgttgtcagttgct	12	7	3	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr5:70840897G>T	ENST00000358731.4	+	32	6858	c.6595G>T	c.(6595-6597)Gtt>Ttt	p.V2199F	BDP1_ENST00000380675.2_Missense_Mutation_p.V335F	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2199					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTCTCAGGAGGTTCACATGTT	0.438																																																	0								ENSG00000145734						113	108	109					5																	70840897		1852	4099	5951	BDP1	SO:0001583	missense	0			-	HGNC	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6595G>T	5.37:g.70840897G>T	ENSP00000351575:p.Val2199Phe	Somatic	0	51	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_SANT/Myb	p.V2199F	ENST00000358731.4	37	c.6595	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126193	0.37533	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.52526	3.54;0.66	4.36	0.1	0.14510	.	0.932737	0.08996	N	0.863745	T	0.56262	0.1973	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.964;0.998	P;D	0.65443	0.778;0.935	T	0.43507	-0.9387	10	0.62326	D	0.03	.	4.6587	0.12632	0.2041:0.3471:0.4489:0.0	.	2199;2199	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	F	2199;1747;335;335	ENSP00000351575:V2199F;ENSP00000370050:V335F	ENSP00000351575:V2199F	V	+	1	0	BDP1	70876653	0.334000	0.24739	0.001000	0.08648	0.043000	0.13939	0.839000	0.27586	0.176000	0.19873	-0.136000	0.14681	GTT	-	NULL		0.438	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	G	NM_018429	-		70840897	1	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	SNP	0.000	T	T	70840897	G	T	70840897	3	4	180	1	0	0	0	0	1	0	0	0	1395	1261	44	3	6721	3	BDP1	5	70840897	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		70840897	110074363	17	12661											
RGMB	285704	genome.wustl.edu	37	chr5	98129279	98129279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttcgacctgctcaccaCtggtgatgccaactttactg	8	13	2	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr5:98129279C>A	ENST00000513185.1	+	3	1572	c.1136C>A	c.(1135-1137)aCt>aAt	p.T379N	RGMB_ENST00000308234.7_Missense_Mutation_p.T420N			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	379					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGCTCACCACTGGTGATGCC	0.562																																																	0								ENSG00000174136						87	86	86					5																	98129279		2096	4230	6326	RGMB	SO:0001583	missense	0			-	HGNC	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1136C>A	5.37:g.98129279C>A	ENSP00000423256:p.Thr379Asn	Somatic	0	50	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	D6R9A0|Q8NC92	Missense_Mutation	SNP							pfam_RGM_C,pfam_RGM_N	p.T420N	ENST00000513185.1	37	c.1259		5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164881	0.78339	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.90385	-2.66;-2.66	5.62	4.74	0.60224	Repulsive guidance molecule, C-terminal (1);	0.045263	0.85682	N	0.000000	D	0.95452	0.8523	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95983	0.8979	10	0.87932	D	0	-14.8558	15.757	0.78043	0.1377:0.8623:0.0:0.0	.	379	Q6NW40	RGMB_HUMAN	N	420;379	ENSP00000308219:T420N;ENSP00000423256:T379N	ENSP00000308219:T420N	T	+	2	0	RGMB	98157179	1.000000	0.71417	0.916000	0.36221	0.976000	0.68499	7.784000	0.85713	1.328000	0.45358	0.655000	0.94253	ACT	-	pfam_RGM_C		0.562	RGMB-003	KNOWN	basic	protein_coding	RGMB	protein_coding	OTTHUMT00000370308.1	C	NM_173670	-		98129279	1	no_errors	ENST00000308234	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98129279	C	A	98129279	3	1	180	1	0	0	0	0	1	0	0	0	13289	565	20	3	1273	3	RGMB	5	98129279	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	27288382	98129279	82785981	18	12662											
DOCK2	1794	genome.wustl.edu	37	chr5	169482352	169482352	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcttggatgaacatccCaggttcaagaataagccagt	9	10	2	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr5:169482352C>A	ENST00000256935.8	+	42	4337	c.4257C>A	c.(4255-4257)ccC>ccA	p.P1419P	DOCK2_ENST00000540750.1_Silent_p.P480P|DOCK2_ENST00000520908.1_Silent_p.P911P|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1419	DHR-2.|Interaction with CRKL.				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)			ATGAACATCCCAGGTTCAAGA	0.473																																																	0								ENSG00000134516						90	85	87					5																	169482352		2203	4300	6503	DOCK2	SO:0001819	synonymous_variant	0			-	HGNC	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.4257C>A	5.37:g.169482352C>A		Somatic	0	37	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q2M3I0|Q96AK7	Silent	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.P1419	ENST00000256935.8	37	c.4257	CCDS4371.1	5																																																																																			-	NULL		0.473	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	-		169482352	1	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	SNP	0.147	A	A	169482352	C	A	169482352	2	1	180	1	0	0	0	0	0	0	0	1	4689	581	21	3		3	DOCK2	5	169482352	Silent	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	71353073	169482352	11432908	19	12663											
SERPINB9	5272	genome.wustl.edu	37	chr6	2890727	2890727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttaaattttggaaggagAacttcaacctcagtactctt	7	7	3	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr6:2890727A>G	ENST00000380698.4	-	7	890	c.801T>C	c.(799-801)gtT>gtC	p.V267V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	267					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGGAAGGAGAACTTCAACCT	0.423																																																	0								ENSG00000170542						93	94	94					6																	2890727		2203	4300	6503	SERPINB9	SO:0001819	synonymous_variant	0			-	HGNC	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.801T>C	6.37:g.2890727A>G		Somatic	0	21	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	7	68.18	B2RBW3|Q5TD03	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.V267	ENST00000380698.4	37	c.801	CCDS4478.1	6																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin		0.423	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	protein_coding	OTTHUMT00000039656.1	A		-		2890727	-1	no_errors	ENST00000380698	ensembl	human	known	74_37	silent	SNP	0.001	G	G	2890727	A	G	2890727	2	3	180	1	0	0	0	0	0	0	0	1	14116	233	9	5		5	SERPINB9	6	2890727	Silent	SNP	A	TCGA-MB-A5Y8-01A-11D-A29N-09		2890727	168224340	20	12664											
REPS1	85021	genome.wustl.edu	37	chr6	139265676	139265676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttaaaagagtactggttgGtggagtatctgcaaaactga	13	4	1	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr6:139265676G>T	ENST00000450536.2	-	5	1286	c.712C>A	c.(712-714)Cca>Aca	p.P238T	REPS1_ENST00000415951.2_Missense_Mutation_p.P238T|REPS1_ENST00000367663.4_Missense_Mutation_p.P238T|REPS1_ENST00000409812.2_Missense_Mutation_p.P238T|REPS1_ENST00000258062.5_Missense_Mutation_p.P238T			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	238					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTACTGGTTGGTGGAGTATCT	0.448																																																	0								ENSG00000135597						193	179	184					6																	139265676		2203	4300	6503	REPS1	SO:0001583	missense	0			-	HGNC		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.712C>A	6.37:g.139265676G>T	ENSP00000392065:p.Pro238Thr	Somatic	0	34	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP							smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.P238T	ENST00000450536.2	37	c.712		6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024739	0.75390	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.36157	1.27;1.32;1.34;1.36;1.29;1.32	5.72	5.72	0.89469	.	0.048246	0.85682	D	0.000000	T	0.38241	0.1033	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.978;0.996	T	0.07809	-1.0753	10	0.33141	T	0.24	-12.7677	18.4242	0.90604	0.0:0.0:1.0:0.0	.	238;238;238;238	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	T	238;238;224;238;238;238;186	ENSP00000392065:P238T;ENSP00000356635:P238T;ENSP00000434251:P224T;ENSP00000386699:P238T;ENSP00000258062:P238T;ENSP00000397941:P238T	ENSP00000258062:P238T	P	-	1	0	REPS1	139307369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.727000	0.91480	2.865000	0.98341	0.655000	0.94253	CCA	-	NULL		0.448	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	protein_coding	OTTHUMT00000042447.3	G		-		139265676	-1	no_errors	ENST00000450536	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139265676	G	T	139265676	3	4	180	1	0	0	0	0	1	0	0	0	13236	1261	44	3	1742	3	REPS1	6	139265676	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	136374949	139265676	31849391	21	12665											
CCT6A	908	genome.wustl.edu	37	chr7	56129482	56129482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccttcaggaaacattaGttaaaattcaagcagaacat	6	7	2	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr7:56129482G>T	ENST00000275603.4	+	12	1609	c.1390G>T	c.(1390-1392)Gtt>Ttt	p.V464F	SNORA15_ENST00000384439.1_RNA|SUMF2_ENST00000413756.1_5'Flank|SUMF2_ENST00000437307.2_5'Flank|SUMF2_ENST00000395435.2_5'Flank|SUMF2_ENST00000434526.2_5'Flank|SUMF2_ENST00000395436.2_5'Flank|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Missense_Mutation_p.V433F|CCT6A_ENST00000335503.3_Missense_Mutation_p.V419F|SUMF2_ENST00000275607.9_5'Flank|SUMF2_ENST00000342190.6_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	464					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAAACATTAGTTAAAATTCA	0.358																																																	0								ENSG00000146731						49	48	48					7																	56129482		2203	4300	6503	CCT6A	SO:0001583	missense	0			-	HGNC	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1390G>T	7.37:g.56129482G>T	ENSP00000275603:p.Val464Phe	Somatic	0	42	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.V464F	ENST00000275603.4	37	c.1390	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315383	0.40996	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78481	-1.18;-1.18;-1.18	4.96	4.08	0.47627	.	0.205916	0.41294	N	0.000918	T	0.81791	0.4897	M	0.90309	3.105	0.53688	D	0.999976	B;B;B	0.18610	0.029;0.008;0.02	B;B;B	0.26969	0.038;0.075;0.038	T	0.80982	-0.1139	10	0.87932	D	0	-11.2745	12.0307	0.53396	0.0854:0.0:0.9146:0.0	.	433;419;464	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	F	464;419;433;322	ENSP00000275603:V464F;ENSP00000352019:V419F;ENSP00000438488:V433F	ENSP00000275603:V464F	V	+	1	0	CCT6A	56096976	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.996000	0.76263	1.088000	0.41272	0.456000	0.33151	GTT	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta		0.358	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	protein_coding	OTTHUMT00000251526.2	G	NM_001762	-		56129482	1	no_errors	ENST00000275603	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56129482	G	T	56129482	3	4	180	1	0	0	0	0	1	0	0	0	2959	1029	36	3	1436	3	CCT6A	7	56129482	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		56129482	103009181	22	12666											
CYP3A7	1551	genome.wustl.edu	37	chr7	99314839	99314839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtctctgcttcccgcCtcagatttctcaccaacaca	5	17	3	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr7:99314839C>T	ENST00000336374.2	-	6	484	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	161					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCTTCCCGCCTCAGATTTCT	0.502																																																	0								ENSG00000160870						162	146	151					7																	99314839		2203	4300	6503	CYP3A7	SO:0001583	missense	0			-	HGNC	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.482G>A	7.37:g.99314839C>T	ENSP00000337450:p.Arg161Lys	Somatic	0	51	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A4D288|Q9H241	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R161K	ENST00000336374.2	37	c.482	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218383	0.06101	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69040	-0.37	3.98	2.02	0.26589	.	0.517672	0.23237	N	0.050394	T	0.38214	0.1032	N	0.12853	0.265	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11494	-1.0585	10	0.12103	T	0.63	.	3.923	0.09251	0.2031:0.5865:0.0:0.2103	.	161	P24462	CP3A7_HUMAN	K	161	ENSP00000337450:R161K	ENSP00000292414:R161K	R	-	2	0	CYP3A7	99152775	0.059000	0.20769	0.026000	0.17262	0.226000	0.24999	0.537000	0.23144	0.715000	0.32103	0.462000	0.41574	AGG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.502	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	protein_coding	OTTHUMT00000345484.1	C		-		99314839	-1	no_errors	ENST00000336374	ensembl	human	known	74_37	missense	SNP	0.046	T	T	99314839	C	T	99314839	3	4	180	1	0	0	0	0	1	0	0	0	4183	681	24	2	1061	2	CYP3A7	7	99314839	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	43185357	99314839	59823824	23	12667											
C9orf82	79886	genome.wustl.edu	37	chr9	26886119	26886120	+	Frame_Shift_Ins	INS	-	-	T													accctcaagaatcttcaaaaINStttttttttcagacaggagc							TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:26886119_26886120insT	ENST00000333916.5	-	3	659_660	c.571_572insA	c.(571-573)attfs	p.I191fs	CAAP1_ENST00000495958.1_Intron|CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Frame_Shift_Ins_p.I46fs	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	191					apoptotic process (GO:0006915)												AATCTTCAAAATTTTTTTTTCA	0.292																																																	0								ENSG00000120159																																			CAAP1	SO:0001589	frameshift_variant	0				HGNC	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.572dupA	9.37:g.26886128_26886128dupT	ENSP00000369431:p.Ile191fs	Somatic	0	26	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Frame_Shift_Ins	INS							NULL	p.I191fs	ENST00000333916.5	37	c.572_571	CCDS6516.1	9																																																																																			-	NULL		0.292	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAAP1	protein_coding	OTTHUMT00000051954.1	-	NM_024828			26886120	-1	no_errors	ENST00000333916	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	26886120	-	T	26886119	7	5	180	1	0	1	1	0	0	0	0	0	2501	101	4	0	529	0	C9orf82	9	26886119	Frame_Shift_Ins	INS	-	TCGA-MB-A5Y8-01A-11D-A29N-09		26886119	114327312	24	12668											
NDUFB6	4712	genome.wustl.edu	37	chr9	32570976	32570976	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagaaacatgatacttcatGtaataatgaataatccagac	5	7	1	4			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:32570976G>T	ENST00000379847.3	-	2	356	c.255C>A	c.(253-255)taC>taA	p.Y85*	NDUFB6_ENST00000350021.2_Nonsense_Mutation_p.Y85*	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	85					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		GATACTTCATGTAATAATGAA	0.333																																																	0								ENSG00000165264						48	48	48					9																	32570976		2203	4293	6496	NDUFB6	SO:0001587	stop_gained	0			-	HGNC	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"Mitochondrial respiratory chain complex / Complex I"	7701	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit"	603322	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.255C>A	9.37:g.32570976G>T	ENSP00000369176:p.Tyr85*	Somatic	0	30	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	A8K0Y7|Q5VYT2|Q6IB84	Nonsense_Mutation	SNP							pfam_NADH_DH_b-subcmplx_su6	p.Y85*	ENST00000379847.3	37	c.255	CCDS6528.1	9	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794302	0.31777	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.41	-0.908	0.10517	.	0.123416	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7569	10.7597	0.46258	0.5692:0.0:0.4308:0.0	.	.	.	.	X	85	.	ENSP00000297983:Y85X	Y	-	3	2	NDUFB6	32560976	0.737000	0.28175	0.033000	0.17914	0.040000	0.13550	1.410000	0.34691	-0.303000	0.08856	-0.302000	0.09304	TAC	-	pfam_NADH_DH_b-subcmplx_su6		0.333	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB6	protein_coding	OTTHUMT00000052001.1	G	NM_002493	-		32570976	-1	no_errors	ENST00000379847	ensembl	human	known	74_37	nonsense	SNP	0.185	T	T	32570976	G	T	32570976	4	4	180	1	0	0	0	0	0	1	0	0	10287	1372	48	3	143	3	NDUFB6	9	32570976	Nonsense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	5684857	32570976	108642455	25	12669											
VPS13A	23230	genome.wustl.edu	37	chr9	79910710	79910710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagagccagagctctcccCcacctgttattgatttgata	8	12	1	4			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:79910710C>A	ENST00000360280.3	+	33	4020	c.3760C>A	c.(3760-3762)Cca>Aca	p.P1254T	VPS13A_ENST00000357409.5_Missense_Mutation_p.P1254T|VPS13A_ENST00000376636.3_Missense_Mutation_p.P1215T|VPS13A_ENST00000376634.4_Missense_Mutation_p.P1254T|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1254					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGCTCTCCCCCACCTGTTAT	0.363																																																	0								ENSG00000197969						73	73	73					9																	79910710		2203	4299	6502	VPS13A	SO:0001583	missense	0			-	HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3760C>A	9.37:g.79910710C>A	ENSP00000353422:p.Pro1254Thr	Somatic	0	27	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.P1254T	ENST00000360280.3	37	c.3760	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275247	0.59649	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.15	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;1.0;1.0	T	0.21381	-1.0247	10	0.31617	T	0.26	.	14.2559	0.66051	0.0:0.9279:0.0:0.0721	.	1215;1254;1254;1254	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	1254;1215;1254;1254	ENSP00000365821:P1254T;ENSP00000365823:P1215T;ENSP00000353422:P1254T;ENSP00000349985:P1254T	ENSP00000349985:P1254T	P	+	1	0	VPS13A	79100530	1.000000	0.71417	0.925000	0.36789	0.635000	0.38103	5.244000	0.65400	1.324000	0.45282	-0.219000	0.12488	CCA	-	NULL		0.363	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	C	NM_015186	-		79910710	1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	SNP	0.998	A	A	79910710	C	A	79910710	3	1	180	1	0	0	0	0	1	0	0	0	17196	623	22	3	3890	3	VPS13A	9	79910710	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	47339734	79910710	61302721	26	12670											
OR13C5	138799	genome.wustl.edu	37	chr9	107361256	107361256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctatgatccaggaccCagctgccatgggtacatagg	11	12	0	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:107361256C>T	ENST00000374779.2	-	1	532	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ATCCAGGACCCAGCTGCCATG	0.473																																																	0								ENSG00000255800						116	112	113					9																	107361256		2203	4300	6503	OR13C5	SO:0001583	missense	0			-	HGNC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.439G>A	9.37:g.107361256C>T	ENSP00000363911:p.Gly147Arg	Somatic	0	65	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147R	ENST00000374779.2	37	c.439	CCDS35091.1	9	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341942	0.24339	.	.	ENSG00000255800	ENST00000374779	T	0.39592	1.07	4.17	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.219101	0.23100	U	0.051925	T	0.48696	0.1514	M	0.89601	3.045	0.09310	N	1	B	0.15719	0.014	B	0.24394	0.053	T	0.42582	-0.9443	10	0.25106	T	0.35	.	10.8541	0.46789	0.2005:0.7994:0.0:0.0	.	147	Q8NGS8	O13C5_HUMAN	R	147	ENSP00000363911:G147R	ENSP00000363911:G147R	G	-	1	0	OR13C5	106401077	0.000000	0.05858	0.629000	0.29254	0.370000	0.29829	0.876000	0.28092	2.169000	0.68431	0.531000	0.56144	GGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	protein_coding	OTTHUMT00000053479.2	C	NM_001004482	-		107361256	-1	no_errors	ENST00000374779	ensembl	human	known	74_37	missense	SNP	0.012	T	T	107361256	C	T	107361256	3	4	180	1	0	0	0	0	1	0	0	0	10939	594	21	2	519	2	OR13C5	9	107361256	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	27450546	107361256	33852175	27	12671											
FKBP15	23307	genome.wustl.edu	37	chr9	115932891	115932891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaaggactggaacacctGgttcatgatcttcttgacct	9	11	3	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:115932891G>T	ENST00000238256.3	-	25	2794	c.2677C>A	c.(2677-2679)Cag>Aag	p.Q893K		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	893					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGGAACACCTGGTTCATGATC	0.448																																																	0								ENSG00000119321						183	176	178					9																	115932891		1940	4145	6085	FKBP15	SO:0001583	missense	0			-	HGNC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2677C>A	9.37:g.115932891G>T	ENSP00000238256:p.Gln893Lys	Somatic	0	37	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.Q893K	ENST00000238256.3	37	c.2677	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508544	0.27036	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.21191	2.02;2.03	5.86	4.93	0.64822	.	.	.	.	.	T	0.18593	0.0446	L	0.50333	1.59	0.25843	N	0.984037	B;B	0.18610	0.029;0.001	B;B	0.15484	0.013;0.002	T	0.26430	-1.0103	9	0.08179	T	0.78	-5.7535	12.1204	0.53887	0.0:0.0:0.7034:0.2966	.	474;893	B4DVS2;Q5T1M5	.;FKB15_HUMAN	K	918;893	ENSP00000416158:Q918K;ENSP00000238256:Q893K	ENSP00000238256:Q893K	Q	-	1	0	FKBP15	114972712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.555000	0.45854	2.777000	0.95525	0.655000	0.94253	CAG	-	NULL		0.448	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	protein_coding		G	NM_015258	-		115932891	-1	no_errors	ENST00000238256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	115932891	G	T	115932891	3	4	180	1	0	0	0	0	1	0	0	0	5907	1357	47	3	998	3	FKBP15	9	115932891	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	8571635	115932891	25280540	28	12672											
CACNA1B	774	genome.wustl.edu	37	chr9	140850187	140850187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagagggtggagaaccgcCgcgccttcctgaagctgcgc	16	12	0	3			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr9:140850187C>A	ENST00000371372.1	+	8	1253	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	370					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)	GGAGAACCGCCGCGCCTTCCT	0.642																																																	0								ENSG00000148408						21	26	25					9																	140850187		2002	4168	6170	CACNA1B	SO:0001583	missense	0			-	HGNC	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.1108C>A	9.37:g.140850187C>A	ENSP00000360423:p.Arg370Ser	Somatic	0	76	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B1AQK5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R370S	ENST00000371372.1	37	c.1108	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	17.07	3.293995	0.60086	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	5.65	3.61	0.41365	.	0.123853	0.56097	D	0.000026	D	0.89608	0.6764	L	0.46157	1.445	0.80722	D	1	D	0.54601	0.967	P	0.45138	0.471	D	0.88577	0.3134	10	0.40728	T	0.16	.	14.1087	0.65109	0.3181:0.6819:0.0:0.0	.	370	B1AQK6	.	S	370	ENSP00000360423:R370S;ENSP00000277551:R370S;ENSP00000360414:R370S;ENSP00000360408:R370S;ENSP00000360406:R370S	ENSP00000277551:R370S	R	+	1	0	CACNA1B	139970008	0.995000	0.38212	0.989000	0.46669	0.971000	0.66376	2.807000	0.47955	1.228000	0.43614	0.485000	0.47835	CGC	-	prints_VDCCAlpha1		0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	C	NM_000718	-		140850187	1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140850187	C	A	140850187	3	1	180	1	0	0	0	0	1	0	0	0	2541	652	23	3	1138	3	CACNA1B	9	140850187	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	24917296	140850187	363244	29	12673											
PCDH15	65217	genome.wustl.edu	37	chr10	56129015	56129015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggacctgcaccacaatGgagtgtatgttcatcggtgg	12	10	1	0			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:56129015G>A	ENST00000320301.6	-	5	733	c.339C>T	c.(337-339)tcC>tcT	p.S113S	PCDH15_ENST00000373965.2_Silent_p.S113S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.S113S|PCDH15_ENST00000395442.1_Silent_p.S113S|PCDH15_ENST00000395440.1_Silent_p.S113S|PCDH15_ENST00000395433.1_Silent_p.S91S|PCDH15_ENST00000395432.2_Silent_p.S113S|PCDH15_ENST00000373955.1_Silent_p.S113S|PCDH15_ENST00000361849.3_Silent_p.S113S|PCDH15_ENST00000395430.1_Silent_p.S113S|PCDH15_ENST00000395438.1_Silent_p.S113S|PCDH15_ENST00000395445.1_Silent_p.S113S|PCDH15_ENST00000373957.3_Silent_p.S91S|PCDH15_ENST00000395446.1_Silent_p.S113S|PCDH15_ENST00000414778.1_Silent_p.S118S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				GCACCACAATGGAGTGTATGT	0.403										HNSCC(58;0.16)																																							0								ENSG00000150275						112	92	99					10																	56129015		2203	4299	6502	PCDH15	SO:0001819	synonymous_variant	0			-	HGNC	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.339C>T	10.37:g.56129015G>A		Somatic	0	59	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S113	ENST00000320301.6	37	c.339	CCDS7248.1	10																																																																																			-	smart_Cadherin		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	G	NM_033056	-		56129015	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56129015	G	A	56129015	2	1	180	1	0	0	0	0	0	0	0	1	11513	1335	47	2		2	PCDH15	10	56129015	Silent	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		56129015	79405732	30	12674											
PBLD	64081	genome.wustl.edu	37	chr10	70045108	70045108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagagctgtcctaccatGcatttctttcttccccagat	6	12	2	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:70045108G>A	ENST00000358769.2	-	9	953	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	PBLD_ENST00000309049.4_Missense_Mutation_p.H251Y|PBLD_ENST00000336578.1_Missense_Mutation_p.H218Y|PBLD_ENST00000432941.1_Missense_Mutation_p.H251Y|PBLD_ENST00000495025.2_Missense_Mutation_p.H251Y	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	251					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCCTACCATGCATTTCTTTC	0.408																																																	0								ENSG00000108187						110	113	112					10																	70045108		2203	4300	6503	PBLD	SO:0001583	missense	0			-	HGNC	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.751C>T	10.37:g.70045108G>A	ENSP00000351619:p.His251Tyr	Somatic	0	28	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP							pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.H251Y	ENST00000358769.2	37	c.751	CCDS7277.2	10	.	.	.	.	.	.	.	.	.	.	G	4.135	0.023327	0.08006	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.29917	1.58;1.58;1.58;1.55	5.24	5.24	0.73138	.	0.366986	0.23629	N	0.046152	T	0.14614	0.0353	N	0.11789	0.175	0.34098	D	0.661482	B;B	0.10296	0.003;0.0	B;B	0.08055	0.002;0.003	T	0.12344	-1.0551	10	0.02654	T	1	.	11.134	0.48365	0.0859:0.0:0.9141:0.0	.	251;251	C9JIM0;P30039	.;PBLD_HUMAN	Y	218;251;251;251	ENSP00000338041:H218Y;ENSP00000351619:H251Y;ENSP00000308466:H251Y;ENSP00000395534:H251Y	ENSP00000308466:H251Y	H	-	1	0	PBLD	69715114	0.996000	0.38824	0.952000	0.39060	0.992000	0.81027	2.474000	0.45154	2.446000	0.82766	0.563000	0.77884	CAT	-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.408	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	protein_coding	OTTHUMT00000048314.1	G	NM_022129	-		70045108	-1	no_errors	ENST00000309049	ensembl	human	known	74_37	missense	SNP	0.985	A	A	70045108	G	A	70045108	3	1	180	1	0	0	0	0	1	0	0	0	11491	1319	46	2	212	2	PBLD	10	70045108	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	13916093	70045108	65489639	31	12675											
SCD	6319	genome.wustl.edu	37	chr10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-													tccagatctctagctcctatAccaccaccaccaccattaca							TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	ACC	ACC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)												0								ENSG00000099194																																			SCD	SO:0001651	inframe_deletion	0				HGNC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del	Somatic	0	31	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL							pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.T18in_frame_del	ENST00000370355.2	37	c.43_45	CCDS7493.1	10																																																																																			-	NULL		0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD	protein_coding	OTTHUMT00000049857.2	ACC	NM_005063			102107838	1	no_errors	ENST00000370355	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.990:0.094	-	-	102107838	ACC	-	102107836	7	5	180	1	0	1	0	1	0	0	0	0	13894	391	14	0	49	0	SCD	10	102107836	In_Frame_Del	DEL	ACC	TCGA-MB-A5Y8-01A-11D-A29N-09	32062728	102107836	33426911	32	12676											
C10orf76	79591	genome.wustl.edu	37	chr10	103783275	103783275	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaagccaagaggacgaCagcatcatacccatgctccc	8	15	1	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:103783275C>G	ENST00000370033.4	-	8	747	c.628G>C	c.(628-630)Gtc>Ctc	p.V210L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	210						integral component of membrane (GO:0016021)				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)		AAGAGGACGACAGCATCATAC	0.458																																																	0								ENSG00000120029						121	118	119					10																	103783275		1946	4147	6093	C10orf76	SO:0001583	missense	0			-	HGNC	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.628G>C	10.37:g.103783275C>G	ENSP00000359050:p.Val210Leu	Somatic	0	28	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	Q2TB87|Q9H8Z9	Missense_Mutation	SNP							pfam_DUF1741,superfamily_ARM-type_fold	p.V210L	ENST00000370033.4	37	c.628	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442772	0.63067	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.31526	0.94	0.80722	D	1	B	0.17465	0.022	B	0.15484	0.013	T	0.44065	-0.9352	9	0.27082	T	0.32	-12.3662	19.1344	0.93420	0.0:1.0:0.0:0.0	.	210	Q5T2E6	CJ076_HUMAN	L	210	.	ENSP00000359050:V210L	V	-	1	0	C10orf76	103773265	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.480000	0.81109	2.590000	0.87494	0.563000	0.77884	GTC	-	superfamily_ARM-type_fold		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	protein_coding	OTTHUMT00000050007.1	C	NM_024541	-		103783275	-1	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	SNP	1.000	G	G	103783275	C	G	103783275	3	3	180	1	0	0	0	0	1	0	0	0	1618	478	17	4	1517	4	C10orf76	10	103783275	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	1675439	103783275	31751472	33	12677											
ATRNL1	26033	genome.wustl.edu	37	chr10	117486842	117486842	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgggagctgaacaaacaGagtttctgcgagggccatta	13	7	1	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr10:117486842G>T	ENST00000355044.3	+	27	4006	c.3880G>T	c.(3880-3882)Gag>Tag	p.E1294*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E345*|ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.E87*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1294					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)		TGAACAAACAGAGTTTCTGCG	0.478																																																	0								ENSG00000107518						52	48	49					10																	117486842		2203	4300	6503	ATRNL1	SO:0001587	stop_gained	0			-	HGNC	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.3880G>T	10.37:g.117486842G>T	ENSP00000347152:p.Glu1294*	Somatic	0	41	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E1294*	ENST00000355044.3	37	c.3880	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.303706	0.97458	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	.	.	.	5.77	5.77	0.91146	.	0.257127	0.43579	D	0.000543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.2425	19.9795	0.97321	0.0:0.0:1.0:0.0	.	.	.	.	X	1294;345;87	.	ENSP00000307660:E87X	E	+	1	0	ATRNL1	117476832	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.936000	0.75892	2.720000	0.93068	0.650000	0.86243	GAG	-	NULL		0.478	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	G	XM_049349	-		117486842	1	no_errors	ENST00000355044	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	117486842	G	T	117486842	4	4	180	1	0	0	0	0	0	1	0	0	1207	943	33	3	3986	3	ATRNL1	10	117486842	Nonsense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	13703567	117486842	18047905	34	12678											
OR10W1	81341	genome.wustl.edu	37	chr11	58034972	58034972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagagggtactgcaacGggtggcaaatggccacatag	16	7	0	2	rs144496337	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr11:58034972G>T	ENST00000395079.2	-	1	760	c.359C>A	c.(358-360)cCg>cAg	p.P120Q		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120						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)				GTACTGCAACGGGTGGCAAAT	0.537																																																	0								ENSG00000172772						113	78	90					11																	58034972		2201	4295	6496	OR10W1	SO:0001583	missense	0			-	HGNC	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.359C>A	11.37:g.58034972G>T	ENSP00000378516:p.Pro120Gln	Somatic	0	37	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P120Q	ENST00000395079.2	37	c.359	CCDS7968.1	11	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932940	0.52866	.	.	ENSG00000172772	ENST00000395079	T	0.01902	4.57	5.81	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.132735	0.34959	N	0.003551	T	0.22437	0.0541	H	0.97940	4.11	0.43879	D	0.996494	D	0.89917	1.0	D	0.68192	0.956	T	0.44452	-0.9327	10	0.87932	D	0	.	14.5519	0.68073	0.0709:0.0:0.9291:0.0	.	120	Q8NGF6	O10W1_HUMAN	Q	120	ENSP00000378516:P120Q	ENSP00000378516:P120Q	P	-	2	0	OR10W1	57791548	1.000000	0.71417	0.307000	0.25127	0.024000	0.10985	7.934000	0.87649	1.458000	0.47871	0.655000	0.94253	CCG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	protein_coding	OTTHUMT00000394704.1	G	NM_207374	-		58034972	-1	no_errors	ENST00000395079	ensembl	human	known	74_37	missense	SNP	0.998	T	T	58034972	G	T	58034972	3	4	180	1	0	0	0	0	1	0	0	0	10923	1116	39	3	562	3	OR10W1	11	58034972	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		58034972	76971544	35	12679											
ELMOD1	55531	genome.wustl.edu	37	chr11	107524940	107524940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagaaaaggatggataaGgcaattgggtgagtatggga	17	1	0	3			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr11:107524940G>T	ENST00000265840.7	+	10	955	c.690G>T	c.(688-690)aaG>aaT	p.K230N	ELMOD1_ENST00000443271.2_Missense_Mutation_p.K222N|ELMOD1_ENST00000531234.1_Missense_Mutation_p.K224N	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	230	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				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)		GGATGGATAAGGCAATTGGGT	0.388																																																	0								ENSG00000110675						107	96	99					11																	107524940		1885	4102	5987	ELMOD1	SO:0001583	missense	0			-	HGNC	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.690G>T	11.37:g.107524940G>T	ENSP00000265840:p.Lys230Asn	Somatic	0	38	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP							pfam_Engulfment_cell_motility_ELMO	p.K230N	ENST00000265840.7	37	c.690	CCDS44723.1	11	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575392	0.45902	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.35	4.14	0.48551	Engulfment/cell motility, ELMO (2);	0.087753	0.53938	D	0.000046	T	0.40347	0.1113	L	0.29908	0.895	0.53005	D	0.999965	P;P	0.41131	0.549;0.739	B;B	0.43623	0.425;0.22	T	0.10291	-1.0636	9	0.17832	T	0.49	.	8.5942	0.33705	0.8173:0.0:0.1827:0.0	.	230;222	Q8N336;G5E9S5	ELMD1_HUMAN;.	N	224;230;222	.	ENSP00000265840:K230N	K	+	3	2	ELMOD1	107030150	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.479000	0.45197	0.866000	0.35629	-0.345000	0.07892	AAG	-	pfam_Engulfment_cell_motility_ELMO		0.388	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ELMOD1	protein_coding	OTTHUMT00000389406.1	G	NM_018712	-		107524940	1	no_errors	ENST00000265840	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107524940	G	T	107524940	3	4	180	1	0	0	0	0	1	0	0	0	5070	991	35	3	724	3	ELMOD1	11	107524940	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	49489968	107524940	27481576	36	12680											
SIK2	23235	genome.wustl.edu	37	chr11	111558730	111558730	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcttcatttacagactatCttgctaatcatggccggtta	6	10	4	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr11:111558730C>A	ENST00000304987.3	+	4	495	c.322C>A	c.(322-324)Ctt>Att	p.L108I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TACAGACTATCTTGCTAATCA	0.368																																																	0								ENSG00000170145						86	84	85					11																	111558730		2201	4297	6498	SIK2	SO:0001583	missense	0			-	HGNC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.322C>A	11.37:g.111558730C>A	ENSP00000305976:p.Leu108Ile	Somatic	0	28	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L108I	ENST00000304987.3	37	c.322	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852424	0.71719	.	.	ENSG00000170145	ENST00000304987	T	0.67345	-0.26	6.07	5.16	0.70880	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	0.60792	0.2296	N	0.05158	-0.105	0.80722	D	1	P	0.45569	0.861	D	0.65323	0.934	T	0.60732	-0.7205	10	0.24483	T	0.36	.	9.8667	0.41148	0.1405:0.7902:0.0:0.0693	.	108	Q9H0K1	SIK2_HUMAN	I	108	ENSP00000305976:L108I	ENSP00000305976:L108I	L	+	1	0	SIK2	111063940	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.613000	0.61176	1.561000	0.49584	0.655000	0.94253	CTT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.368	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	protein_coding	OTTHUMT00000319352.3	C	NM_015191	-		111558730	1	no_errors	ENST00000304987	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111558730	C	A	111558730	3	1	180	1	0	0	0	0	1	0	0	0	14326	913	32	3	336	3	SIK2	11	111558730	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	4033790	111558730	23447786	37	12681											
TMPRSS13	84000	genome.wustl.edu	37	chr11	117789313	117789327	+	In_Frame_Del	DEL	GGGCTGGAGATGCCT	GGGCTGGAGATGCCT	-													tgccagagccggagatgcccGggctggagatgcctgggctg					rs577467360|rs201746372|rs200205086|rs61900346|rs371814093|rs58754377|rs201983451|rs368164118|rs201369736	byFrequency	TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	GGGCTGGAGATGCCT	GGGCTGGAGATGCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr11:117789313_117789327delGGGCTGGAGATGCCT	ENST00000430170.2	-	2	335_349	c.248_262delAGGCATCTCCAGCCC	c.(247-264)caggcatctccagcccgg>cgg	p.QASPA83del	TMPRSS13_ENST00000524993.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.QASPA83del|TMPRSS13_ENST00000528626.1_In_Frame_Del_p.QASPA83del	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	83	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		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)		GGAGATGCCCGGGCTGGAGATGCCTGGGCTGGAGA	0.66																																																	1	Deletion - In frame(1)	urinary_tract(1)						ENSG00000137747		,,	2974,624		1262,450,87					,,	0	0		dbSNP_126	58	5904,1944		2214,1476,234	no	coding,coding,coding	TMPRSS13	NM_001206790.1,NM_001206789.1,NM_001077263.2	,,	3476,1926,321	A1A1,A1R,RR		24.7706,17.343,22.4358	,,	,,		8878,2568				TMPRSS13	SO:0001651	inframe_deletion	0				HGNC	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.248_262delAGGCATCTCCAGCCC	11.37:g.117789313_117789327delGGGCTGGAGATGCCT	ENSP00000387702:p.Gln83_Ala87del	Somatic					0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	In_Frame_Del	DEL							pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1	p.QASPA83in_frame_del	ENST00000430170.2	37	c.262_248	CCDS58185.1	11																																																																																			-	pirsf_Peptidase_S1A_TMPRSS13		0.66	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	TMPRSS13	protein_coding	OTTHUMT00000392318.1	GGGCTGGAGATGCCT	NM_032046			117789327	-1	no_errors	ENST00000445164	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.027:0.023:0.018:0.154:0.212:0.233:0.001	-	-	117789327	GGGCTGGAGATGCCT	-	117789313	7	5	180	1	0	1	0	1	0	0	0	0	16252	1115	39	0	1489	0	TMPRSS13	11	117789313	In_Frame_Del	DEL	GGGCTGGAGATGCCT	TCGA-MB-A5Y8-01A-11D-A29N-09	6230583	117789313	17217203	38	12682											
CDK4	1019	genome.wustl.edu	37	chr12	58145458	58145458	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtacactgtcccataggcacCgacaccaatttcagccactg	7	15	1	0			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr12:58145458C>G	ENST00000257904.6	-	2	408	c.43G>C	c.(43-45)Ggt>Cgt	p.G15R	CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.G15R|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCATAGGCACCGACACCAATT	0.542			Mis			melanoma			Hereditary Melanoma																														yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0								ENSG00000135446						63	64	64					12																	58145458		2203	4300	6503	CDK4	SO:0001583	missense	0	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	-	HGNC	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"Cyclin-dependent kinases"	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.43G>C	12.37:g.58145458C>G	ENSP00000257904:p.Gly15Arg	Somatic	0	27	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G15R	ENST00000257904.6	37	c.43	CCDS8953.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573793	0.86542	.	.	ENSG00000135446	ENST00000257904;ENST00000312990;ENST00000552254;ENST00000552388;ENST00000552862	D;D;D;D;D	0.96365	-3.99;-2.8;-3.99;-3.99;-3.99	5.17	4.28	0.50868	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	0.98931	0.9637	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98810	1.0743	10	0.87932	D	0	.	13.0921	0.59171	0.0:0.9209:0.0:0.0791	.	15	P11802	CDK4_HUMAN	R	15	ENSP00000257904:G15R;ENSP00000316889:G15R;ENSP00000449179:G15R;ENSP00000448963:G15R;ENSP00000446763:G15R	ENSP00000257904:G15R	G	-	1	0	CDK4	56431725	1.000000	0.71417	0.955000	0.39395	0.978000	0.69477	7.325000	0.79124	1.557000	0.49525	-0.140000	0.14226	GGT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK4	protein_coding	OTTHUMT00000408790.2	C	NM_000075	-		58145458	-1	no_errors	ENST00000257904	ensembl	human	known	74_37	missense	SNP	0.999	G	G	58145458	C	G	58145458	3	3	180	1	0	0	0	0	1	0	0	0	3143	652	23	4	896	4	CDK4	12	58145458	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09		58145458	75706437	39	12683											
C12orf63	144535	genome.wustl.edu	37	chr12	97102550	97102550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaagacagtaattaccaaCaagagcaaaccaaacctacc	4	11	0	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr12:97102550C>T	ENST00000524981.4	+	48	6716	c.6693C>T	c.(6691-6693)aaC>aaT	p.N2231N				Q96N23	CL055_HUMAN		0																	TAATTACCAACAAGAGCAAAC	0.348																																																	0								ENSG00000188596						66	69	68					12																	97102550		2203	4299	6502	C12orf55	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000524981.4:c.6693C>T	12.37:g.97102550C>T		Somatic	0	16	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18		Silent	SNP							superfamily_Fibronectin_type3	p.N2231	ENST00000524981.4	37	c.6693		12																																																																																			-	NULL		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	C		-		97102550	1	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	SNP	0.000	T	T	97102550	C	T	97102550	2	4	180	1	0	0	0	0	0	0	0	1	1708	477	17	2		2	C12orf63	12	97102550	Silent	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	38957092	97102550	36749345	40	12684											
P2RX2	22953	genome.wustl.edu	37	chr12	133198160	133198160	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggggtcccagcgggtgcGgggggtccaccaggccctta	17	13	1	0	rs199514327		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr12:133198160G>A	ENST00000389110.3	+	10	1099				P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.G366R|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2						behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CAGCGGGTGCGGGGGGTCCAC	0.582																																																	0								ENSG00000187848						39	45	43					12																	133198160		2203	4300	6503	P2RX2	SO:0001627	intron_variant	0			-	HGNC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1062+34G>A	12.37:g.133198160G>A		Somatic	0	43	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP							pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.G366R	ENST00000389110.3	37	c.1096	CCDS31931.1	12	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.378800	0.01204	.	.	ENSG00000187848	ENST00000343948	T	0.05855	3.38	4.24	-1.39	0.08997	.	0.858235	0.09425	U	0.803884	T	0.02533	0.0077	.	.	.	0.09310	N	0.999999	P	0.41624	0.757	B	0.27076	0.076	T	0.42982	-0.9419	8	.	.	.	.	2.6482	0.04991	0.1658:0.263:0.4368:0.1344	.	366	Q9UBL9-4	.	R	366	ENSP00000343339:G366R	.	G	+	1	0	P2RX2	131708233	0.000000	0.05858	0.001000	0.08648	0.239000	0.25481	-0.978000	0.03778	0.076000	0.16826	0.555000	0.69702	GGG	-	NULL		0.582	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	protein_coding	OTTHUMT00000397542.1	G		rs199514327		133198160	1	no_errors	ENST00000343948	ensembl	human	known	74_37	missense	SNP	0.000	A	A	133198160	G	A	133198160	1	1	180	0	1	0	0	0	0	0	0	0	11342	1116	39	1		1	P2RX2	12	133198160	Intron	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	36095610	133198160	653735	41	12685											
TGM1	7051	genome.wustl.edu	37	chr14	24727837	24727837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcgtgggcggagttgAagttggtgacagtacgggtg	19	5	0	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr14:24727837A>C	ENST00000206765.6	-	8	1325	c.1202T>G	c.(1201-1203)tTc>tGc	p.F401C	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	401			F -> V (in ARCI1).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGCGGAGTTGAAGTTGGTGAC	0.572																																																	0								ENSG00000092295						186	161	169					14																	24727837		2203	4300	6503	TGM1	SO:0001583	missense	0			-	HGNC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1202T>G	14.37:g.24727837A>C	ENSP00000206765:p.Phe401Cys	Somatic	0	57	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	B4DWR7|Q197M4	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F401C	ENST00000206765.6	37	c.1202	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	A	16.12	3.031984	0.54790	.	.	ENSG00000092295	ENST00000206765	D	0.97430	-4.38	4.69	3.46	0.39613	Transglutaminase-like (2);	0.047647	0.85682	D	0.000000	D	0.98356	0.9454	H	0.94423	3.535	0.80722	D	1	D	0.63880	0.993	P	0.61533	0.89	D	0.98378	1.0557	10	0.87932	D	0	-29.0993	9.0433	0.36331	0.8349:0.0:0.0:0.1651	.	401	P22735	TGM1_HUMAN	C	401	ENSP00000206765:F401C	ENSP00000206765:F401C	F	-	2	0	TGM1	23797677	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	0.359000	0.20233	2.111000	0.64477	0.459000	0.35465	TTC	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.572	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	protein_coding	OTTHUMT00000073160.6	A	NM_000359	-		24727837	-1	no_errors	ENST00000206765	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24727837	A	C	24727837	3	2	180	1	0	0	0	0	1	0	0	0	15836	246	9	5	1283	5	TGM1	14	24727837	Missense_Mutation	SNP	A	TCGA-MB-A5Y8-01A-11D-A29N-09		24727837	82621703	42	12686											
BUB1B	701	genome.wustl.edu	37	chr15	40504782	40504782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagattttgatcatttttGcagctgttatcaatatcaag	7	5	3	3			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr15:40504782G>T	ENST00000287598.6	+	19	2663	c.2468G>T	c.(2467-2469)tGc>tTc	p.C823F	BUB1B_ENST00000412359.3_Missense_Mutation_p.C837F	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	823	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GATCATTTTTGCAGCTGTTAT	0.333			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0								ENSG00000156970						119	113	115					15																	40504782		2203	4300	6503	BUB1B	SO:0001583	missense	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	-	HGNC	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2468G>T	15.37:g.40504782G>T	ENSP00000287598:p.Cys823Phe	Somatic	0	62	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP							pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.C837F	ENST00000287598.6	37	c.2510	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755885	0.49362	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.19669	2.13;2.13	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);	0.169618	0.42682	D	0.000669	T	0.35422	0.0931	L	0.54323	1.7	0.44771	D	0.997771	D	0.62365	0.991	D	0.65773	0.938	T	0.05533	-1.0879	10	0.11182	T	0.66	-7.7283	13.5093	0.61502	0.0:0.0:0.844:0.1559	.	823	O60566	BUB1B_HUMAN	F	823;837;706	ENSP00000287598:C823F;ENSP00000398470:C837F	ENSP00000287598:C823F	C	+	2	0	BUB1B	38292074	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	3.848000	0.55903	2.368000	0.80403	0.655000	0.94253	TGC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom		0.333	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	protein_coding	OTTHUMT00000252122.4	G		-		40504782	1	no_errors	ENST00000412359	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40504782	G	T	40504782	3	4	180	1	0	0	0	0	1	0	0	0	1573	1319	46	3	2542	3	BUB1B	15	40504782	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		40504782	62026610	43	12687											
DISP2	85455	genome.wustl.edu	37	chr15	40661057	40661057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacttccggaacagtcCggactacaaccagacccagc	8	16	0	1	rs559188294		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr15:40661057C>T	ENST00000267889.3	+	8	2831	c.2744C>T	c.(2743-2745)cCg>cTg	p.P915L	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	915					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.P915Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGGAACAGTCCGGACTACAAC	0.627																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000140323						49	51	50					15																	40661057		2203	4300	6503	DISP2	SO:0001583	missense	0			-	HGNC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2744C>T	15.37:g.40661057C>T	ENSP00000267889:p.Pro915Leu	Somatic	0	55	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	35	33.96	Q6AHW3|Q9C0C1	Missense_Mutation	SNP							pfscan_SSD	p.P915L	ENST00000267889.3	37	c.2744	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.866601	0.00547	.	.	ENSG00000140323	ENST00000267889	T	0.09445	2.98	4.85	3.86	0.44501	.	0.360109	0.31102	N	0.008241	T	0.03053	0.0090	N	0.02345	-0.59	0.38645	D	0.951694	B	0.25048	0.117	B	0.09377	0.004	T	0.44832	-0.9302	10	0.20046	T	0.44	-0.9813	3.9102	0.09199	0.0:0.6855:0.0:0.3145	.	915	A7MBM2	DISP2_HUMAN	L	915	ENSP00000267889:P915L	ENSP00000267889:P915L	P	+	2	0	DISP2	38448349	0.353000	0.24904	0.221000	0.23827	0.080000	0.17528	3.949000	0.56668	2.544000	0.85801	0.555000	0.69702	CCG	-	NULL		0.627	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	protein_coding	OTTHUMT00000252249.1	C	NM_033510	-		40661057	1	no_errors	ENST00000267889	ensembl	human	known	74_37	missense	SNP	0.991	T	T	40661057	C	T	40661057	3	4	180	1	0	0	0	0	1	0	0	0	4542	652	23	1	2774	1	DISP2	15	40661057	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	156275	40661057	61870335	44	12688											
UNC13C	440279	genome.wustl.edu	37	chr15	54305434	54305435	+	Frame_Shift_Del	DEL	GA	GA	-													atgctaaagtaaccaacagtGataatgaggatctgcttcaa					rs376146156		TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr15:54305434_54305435delGA	ENST00000260323.11	+	1	334_335	c.334_335delGA	c.(334-336)gatfs	p.D112fs	UNC13C_ENST00000537900.1_Frame_Shift_Del_p.D112fs|UNC13C_ENST00000545554.1_Frame_Shift_Del_p.D112fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	112					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACCAACAGTGATAATGAGGAT	0.421																																																	0								ENSG00000137766																																			UNC13C	SO:0001589	frameshift_variant	0				HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.334_335delGA	15.37:g.54305434_54305435delGA	ENSP00000260323:p.Asp112fs	Somatic	0	25	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.D112fs	ENST00000260323.11	37	c.334_335	CCDS45264.1	15																																																																																			-	NULL		0.421	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	GA	NM_173166			54305435	1	no_errors	ENST00000260323	ensembl	human	known	74_37	frame_shift_del	DEL	0.453:0.448	-	-	54305435	GA	-	54305434	7	5	180	1	0	1	0	1	0	0	0	0	16993	1290	45	0	336	0	UNC13C	15	54305434	Frame_Shift_Del	DEL	GA	TCGA-MB-A5Y8-01A-11D-A29N-09	13644377	54305434	48225958	45	12689											
COG4	25839	genome.wustl.edu	37	chr16	70546170	70546170	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaggtactccgagaactttCttaatccctcctcatgcaaa	5	12	2	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr16:70546170C>A	ENST00000323786.5	-	5	731	c.710G>T	c.(709-711)aGa>aTa	p.R237I	COG4_ENST00000393612.4_Missense_Mutation_p.R233I|COG4_ENST00000564653.1_3'UTR	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	233					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CGAGAACTTTCTTAATCCCTC	0.527																																																	0								ENSG00000103051						92	81	84					16																	70546170		2198	4300	6498	COG4	SO:0001583	missense	0			-	HGNC	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.710G>T	16.37:g.70546170C>A	ENSP00000315775:p.Arg237Ile	Somatic	0	24	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP							pfam_COG_su4,smart_COG_su4	p.R237I	ENST00000323786.5	37	c.710	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711039	0.68730	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.44482	0.92;0.92	5.53	5.53	0.82687	Conserved oligomeric Golgi complex, subunit 4 (2);	0.126316	0.64402	D	0.000001	T	0.36413	0.0966	N	0.24115	0.695	0.47183	D	0.99934	B;B	0.14438	0.01;0.01	B;B	0.26310	0.068;0.068	T	0.10636	-1.0621	10	0.45353	T	0.12	-9.058	19.466	0.94939	0.0:1.0:0.0:0.0	.	232;233	Q6PIW8;Q9H9E3	.;COG4_HUMAN	I	237;233;233	ENSP00000315775:R237I;ENSP00000377236:R233I	ENSP00000315775:R237I	R	-	2	0	COG4	69103671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.695000	0.61767	2.607000	0.88179	0.655000	0.94253	AGA	-	pfam_COG_su4,smart_COG_su4		0.527	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	protein_coding	OTTHUMT00000250326.3	C		-		70546170	-1	no_errors	ENST00000323786	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70546170	C	A	70546170	3	1	180	1	0	0	0	0	1	0	0	0	3662	913	32	3	1719	3	COG4	16	70546170	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09		70546170	19808583	46	12690											
GGT6	124975	genome.wustl.edu	37	chr17	4461459	4461459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctggtgctgggcctGggtagggggccttgctgcca	18	10	0	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr17:4461459G>T	ENST00000574154.1	-	4	1629	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K	MYBBP1A_ENST00000381556.2_5'Flank|MYBBP1A_ENST00000254718.4_5'Flank|GGT6_ENST00000381550.3_Missense_Mutation_p.Q451K|GGT6_ENST00000301395.3_Missense_Mutation_p.Q413K|GGT6_ENST00000573591.1_Missense_Mutation_p.Q297K			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	445					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGCTGGGCCTGGGTAGGGGGC	0.627																																																	0								ENSG00000167741						91	80	83					17																	4461459		2203	4300	6503	GGT6	SO:0001583	missense	0			-	HGNC	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"Gamma-glutamyltransferases"	26891	protein-coding gene	gene with protein product		612341	"gamma-glutamyltransferase 6 homolog (rat)"			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.1333C>A	17.37:g.4461459G>T	ENSP00000458307:p.Gln445Lys	Somatic	0	46	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	B4DUH4|Q8NCM0	Missense_Mutation	SNP							pfam_GGT_peptidase,prints_GGT_peptidase	p.Q445K	ENST00000574154.1	37	c.1333	CCDS45582.1	17	.	.	.	.	.	.	.	.	.	.	G	6.839	0.524060	0.13066	.	.	ENSG00000167741	ENST00000381550;ENST00000301395;ENST00000414312	T	0.23348	1.91	3.51	3.51	0.40186	.	0.687209	0.13089	N	0.414719	T	0.20414	0.0491	L	0.47716	1.5	0.09310	N	1	B;B;P	0.40731	0.255;0.231;0.728	B;B;B	0.38500	0.071;0.107;0.275	T	0.05321	-1.0892	10	0.09084	T	0.74	-26.312	10.7479	0.46191	0.0:0.0:1.0:0.0	.	451;445;413	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	K	445;413;297	ENSP00000301395:Q413K	ENSP00000301395:Q413K	Q	-	1	0	GGT6	4408208	0.015000	0.18098	0.011000	0.14972	0.392000	0.30506	1.539000	0.36104	1.964000	0.57103	0.655000	0.94253	CAG	-	NULL		0.627	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GGT6	protein_coding	OTTHUMT00000439122.1	G	NM_153338	-		4461459	-1	no_errors	ENST00000574154	ensembl	human	known	74_37	missense	SNP	0.019	T	T	4461459	G	T	4461459	3	4	180	1	0	0	0	0	1	0	0	0	6365	1357	47	3	152	3	GGT6	17	4461459	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		4461459	76733751	47	12691											
TEX14	56155	genome.wustl.edu	37	chr17	56679184	56679184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccatttcctttagttctAtgatttccatgtcaggtgtc	6	10	2	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr17:56679184A>G	ENST00000240361.8	-	13	1764	c.1679T>C	c.(1678-1680)aTa>aCa	p.I560T	TEX14_ENST00000349033.5_Missense_Mutation_p.I554T|TEX14_ENST00000389934.3_Missense_Mutation_p.I554T			Q8IWB6	TEX14_HUMAN	testis expressed 14	560					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTTAGTTCTATGATTTCCAT	0.453																																																	0								ENSG00000121101						180	162	168					17																	56679184		2203	4300	6503	TEX14	SO:0001583	missense	0			-	HGNC	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1679T>C	17.37:g.56679184A>G	ENSP00000240361:p.Ile560Thr	Somatic	0	34	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.I560T	ENST00000240361.8	37	c.1679	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	A	5.470	0.271765	0.10349	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.77877	-1.13;-1.13;-1.09	5.8	-0.967	0.10316	.	0.458025	0.22261	N	0.062417	T	0.51329	0.1668	N	0.08118	0	0.09310	N	1	B;B;B	0.21520	0.057;0.02;0.02	B;B;B	0.21151	0.022;0.033;0.033	T	0.39742	-0.9599	10	0.48119	T	0.1	-4.1658	4.4564	0.11645	0.2126:0.2327:0.0:0.5547	.	560;554;554	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	T	560;554;554	ENSP00000240361:I560T;ENSP00000374584:I554T;ENSP00000268910:I554T	ENSP00000240361:I560T	I	-	2	0	TEX14	54034183	1.000000	0.71417	0.991000	0.47740	0.114000	0.19823	1.356000	0.34079	-0.106000	0.12110	-1.731000	0.00696	ATA	-	NULL		0.453	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	protein_coding	OTTHUMT00000445446.1	A		-		56679184	-1	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	SNP	0.077	G	G	56679184	A	G	56679184	3	3	180	1	0	0	0	0	1	0	0	0	15785	449	16	5	2898	5	TEX14	17	56679184	Missense_Mutation	SNP	A	TCGA-MB-A5Y8-01A-11D-A29N-09	52217725	56679184	24516026	48	12692											
DCAF7	10238	genome.wustl.edu	37	chr17	61666515	61666515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgctacaacaactgccTggagatactcagagtgtagt	9	10	2	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr17:61666515T>C	ENST00000310827.4	+	8	1227	c.1010T>C	c.(1009-1011)cTg>cCg	p.L337P	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.L137P|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	337					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AACAACTGCCTGGAGATACTC	0.542																																																	0								ENSG00000136485						105	102	103					17																	61666515		2043	4185	6228	DCAF7	SO:0001583	missense	0			-	HGNC	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.1010T>C	17.37:g.61666515T>C	ENSP00000308344:p.Leu337Pro	Somatic	0	40	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L337P	ENST00000310827.4	37	c.1010		17	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468013	0.84533	.	.	ENSG00000136485	ENST00000310827;ENST00000415273	T;T	0.22134	2.43;1.97	5.31	5.31	0.75309	.	0.071335	0.64402	D	0.000018	T	0.41696	0.1170	.	.	.	0.80722	D	1	D;P	0.62365	0.991;0.921	P;P	0.57960	0.83;0.792	T	0.38001	-0.9681	9	0.87932	D	0	-17.1767	15.422	0.75018	0.0:0.0:0.0:1.0	.	137;337	B4E039;P61962	.;DCAF7_HUMAN	P	337;137	ENSP00000308344:L337P;ENSP00000403920:L137P	ENSP00000308344:L337P	L	+	2	0	DCAF7	59020247	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.226000	0.72624	0.460000	0.39030	CTG	-	NULL		0.542	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	protein_coding		T	NM_005828	-		61666515	1	no_errors	ENST00000310827	ensembl	human	known	74_37	missense	SNP	1.000	C	C	61666515	T	C	61666515	3	2	180	1	0	0	0	0	1	0	0	0	4277	1580	55	5	1037	5	DCAF7	17	61666515	Missense_Mutation	SNP	T	TCGA-MB-A5Y8-01A-11D-A29N-09	4987331	61666515	19528695	49	12693											
SFRS14	10147	genome.wustl.edu	37	chr19	19136447	19136447	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccaacaccccccttaGctgtgagcaggccctgagtc	9	16	0	2			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:19136447G>C	ENST00000601879.1	-	3	1007	c.710C>G	c.(709-711)gCt>gGt	p.A237G	SUGP2_ENST00000452918.2_Missense_Mutation_p.A237G|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Missense_Mutation_p.A251G|SUGP2_ENST00000337018.6_Missense_Mutation_p.A237G			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	237					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACCCCCCTTAGCTGTGAGCAG	0.517																																																	0								ENSG00000064607						114	109	111					19																	19136447		2203	4300	6503	SUGP2	SO:0001583	missense	0			-	HGNC	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.710C>G	19.37:g.19136447G>C	ENSP00000472286:p.Ala237Gly	Somatic	0	71	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	38	44.93	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP							pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A237G	ENST00000601879.1	37	c.710	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245963	0.39697	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.12465	2.7;2.68;2.7	5.11	5.11	0.69529	.	0.529889	0.18395	N	0.142559	T	0.11580	0.0282	N	0.24115	0.695	0.80722	D	1	B;B	0.27823	0.104;0.19	B;B	0.24155	0.036;0.051	T	0.09465	-1.0673	10	0.66056	D	0.02	-3.7053	15.699	0.77528	0.0:0.0:1.0:0.0	.	237;237	A8K5G0;Q8IX01	.;SUGP2_HUMAN	G	237	ENSP00000337926:A237G;ENSP00000332373:A237G;ENSP00000389380:A237G	ENSP00000332373:A237G	A	-	2	0	SUGP2	18997447	0.996000	0.38824	0.046000	0.18839	0.949000	0.60115	3.935000	0.56560	2.390000	0.81377	0.313000	0.20887	GCT	-	NULL		0.517	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	protein_coding	OTTHUMT00000464627.1	G	NM_001017392	-		19136447	-1	no_errors	ENST00000337018	ensembl	human	known	74_37	missense	SNP	0.783	C	C	19136447	G	C	19136447	3	2	180	1	0	0	0	0	1	0	0	0	14178	971	34	4	2570	4	SFRS14	19	19136447	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09		19136447	39992536	50	12694											
ANKRD27	84079	genome.wustl.edu	37	chr19	33137460	33137460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcaaagagaatgggcActgagagaagacaggcaaaa	11	6	2	4			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:33137460A>G	ENST00000306065.4	-	4	433	c.275T>C	c.(274-276)gTg>gCg	p.V92A	ANKRD27_ENST00000587352.1_Missense_Mutation_p.V92A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	92					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGAATGGGCACTGAGAGAAG	0.433																																																	0								ENSG00000105186						86	88	88					19																	33137460		2203	4300	6503	ANKRD27	SO:0001583	missense	0			-	HGNC	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.275T>C	19.37:g.33137460A>G	ENSP00000304292:p.Val92Ala	Somatic	0	24	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.V92A	ENST00000306065.4	37	c.275	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311343	0.81358	.	.	ENSG00000105186	ENST00000306065	T	0.64803	-0.12	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000090	T	0.70298	0.3208	L	0.46157	1.445	0.42323	D	0.992269	D	0.64830	0.994	P	0.59171	0.853	T	0.74228	-0.3733	10	0.72032	D	0.01	-25.4491	15.1942	0.73071	1.0:0.0:0.0:0.0	.	92	Q96NW4	ANR27_HUMAN	A	92	ENSP00000304292:V92A	ENSP00000304292:V92A	V	-	2	0	ANKRD27	37829300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.953000	0.87836	1.997000	0.58415	0.445000	0.29226	GTG	-	NULL		0.433	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	protein_coding	OTTHUMT00000450329.1	A	NM_032139	-		33137460	-1	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33137460	A	G	33137460	3	3	180	1	0	0	0	0	1	0	0	0	655	159	6	5	2981	5	ANKRD27	19	33137460	Missense_Mutation	SNP	A	TCGA-MB-A5Y8-01A-11D-A29N-09	14001013	33137460	25991523	51	12695											
CYP2S1	29785	genome.wustl.edu	37	chr19	41712320	41712320	+	Frame_Shift_Del	DEL	T	T	-													caagcccaccgtcagtggccTtttcaacattcccccagcct							TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:41712320delT	ENST00000310054.4	+	9	1658	c.1442delT	c.(1441-1443)cttfs	p.L481fs	CYP2S1_ENST00000542619.1_Frame_Shift_Del_p.L206fs	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	481					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTCAGTGGCCTTTTCAACATT	0.602																																																	0								ENSG00000167600						136	127	130					19																	41712320		2203	4300	6503	CYP2S1	SO:0001589	frameshift_variant	0				HGNC	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.1442delT	19.37:g.41712320delT	ENSP00000308032:p.Leu481fs	Somatic	0	24	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	Q9BZ66	Frame_Shift_Del	DEL							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.F482fs	ENST00000310054.4	37	c.1442	CCDS12573.1	19																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.602	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	protein_coding	OTTHUMT00000463287.1	T				41712320	1	no_errors	ENST00000310054	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	41712320	T	-	41712320	7	5	180	1	0	1	0	1	0	0	0	0	4176	1609	56	0	1476	0	CYP2S1	19	41712320	Frame_Shift_Del	DEL	T	TCGA-MB-A5Y8-01A-11D-A29N-09	8574860	41712320	17416663	52	12696											
PNKP	11284	genome.wustl.edu	37	chr19	50370442	50370442	+	Frame_Shift_Del	DEL	G	G	-													tctcgagccacaagcggcccGgggcctccacctcgcccatc							TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chr19:50370442delG	ENST00000322344.3	-	2	129	c.20delC	c.(19-21)ccgfs	p.P7fs	PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Frame_Shift_Del_p.P7fs|PNKP_ENST00000600910.1_Frame_Shift_Del_p.P7fs|PNKP_ENST00000596014.1_Frame_Shift_Del_p.P7fs	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	7	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CAAGCGGCCCGGGGCCTCCAC	0.721								Other BER factors																																									0								ENSG00000039650						9	11	11					19																	50370442		2022	4056	6078	PNKP	SO:0001589	frameshift_variant	0				HGNC	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.20delC	19.37:g.50370442delG	ENSP00000323511:p.Pro7fs	Somatic	0	11	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Frame_Shift_Del	DEL							pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,superfamily_P-loop_NTPase,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.P7fs	ENST00000322344.3	37	c.20	CCDS12783.1	19																																																																																			-	superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met		0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	protein_coding	OTTHUMT00000465830.1	G	NM_007254			50370442	-1	no_errors	ENST00000322344	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	50370442	G	-	50370442	7	5	180	1	0	1	0	1	0	0	0	0	12149	1116	39	0	1609	0	PNKP	19	50370442	Frame_Shift_Del	DEL	G	TCGA-MB-A5Y8-01A-11D-A29N-09	8658122	50370442	8758541	53	12697											
SFRS17A	8227	genome.wustl.edu	37	chrX	1713021	1713021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctatgtgcagtaccgCgagtacatgggcttcatcca	12	11	1	0			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:1713021C>T	ENST00000313871.3	+	2	862	c.666C>T	c.(664-666)cgC>cgT	p.R222R	AKAP17A_ENST00000381261.3_Silent_p.R222R	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	222	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGCAGTACCGCGAGTACATGG	0.607													c|||	2801	0.559305	0.5832	0.5115	5008	,	,		19903	0.5268		0.5875	False		,,,				2504	0.5654																0								ENSG00000197976			2444,1962		683,1078,442	111	102	105		666	-0.7	0	X	dbSNP_134	105	4590,4002		1181,2228,887	no	coding-synonymous	AKAP17A	NM_005088.2		1864,3306,1329	TT,TC,CC		46.5782,44.5302,45.884		222/696	1713021	7034,5964	2203	4296	6499	AKAP17A	SO:0001819	synonymous_variant	0			-	HGNC	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.666C>T	X.37:g.1713021C>T		Somatic	0	92	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP							NULL	p.R222	ENST00000313871.3	37	c.666	CCDS14116.1	X																																																																																			-	NULL		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	protein_coding	OTTHUMT00000055609.2	C	NM_005088	-		1713021	1	no_errors	ENST00000313871	ensembl	human	known	74_37	silent	SNP	0.764	T	T	1713021	C	T	1713021	2	4	180	1	0	0	0	0	0	0	0	1	14181	755	27	1		1	SFRS17A	23	1713021	Silent	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09		1713021	153557539	54	12698											
NHS	4810	genome.wustl.edu	37	chrX	17742527	17742527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaccatctcgggtatccCcagaagagttcaacaagaaa	8	10	2	3			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:17742527C>T	ENST00000380060.3	+	5	1492	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L	NHS_ENST00000398097.3_Missense_Mutation_p.P229L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	406					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCGGGTATCCCCAGAAGAGTT	0.413																																																	0								ENSG00000188158						95	86	89					X																	17742527		2203	4300	6503	NHS	SO:0001583	missense	0			-	HGNC		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1154C>T	X.37:g.17742527C>T	ENSP00000369400:p.Pro385Leu	Somatic	0	32	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP							NULL	p.P385L	ENST00000380060.3	37	c.1154	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850082	0.91277	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.60797	0.19;0.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.76574	2.34	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;0.999;0.999;0.999	T	0.78339	-0.2242	10	0.54805	T	0.06	-20.1811	18.5982	0.91236	0.0:1.0:0.0:0.0	.	406;227;229;385	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	385;229;227	ENSP00000369400:P385L;ENSP00000381170:P229L	ENSP00000369397:P227L	P	+	2	0	NHS	17652448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.705000	0.84606	2.422000	0.82143	0.544000	0.68410	CCC	-	NULL		0.413	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	protein_coding	OTTHUMT00000059120.1	C	NM_198270	-		17742527	1	no_errors	ENST00000380060	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17742527	C	T	17742527	3	4	180	1	0	0	0	0	1	0	0	0	10413	623	22	2	1277	2	NHS	23	17742527	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	16029506	17742527	137528033	55	12699											
IL13RA2	3598	genome.wustl.edu	37	chrX	114248419	114248419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgccaattgtaatatacgCaatccatatcctgaacttta	4	9	0	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:114248419C>T	ENST00000371936.1	-	6	683	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	IL13RA2_ENST00000468224.1_5'Flank|IL13RA2_ENST00000243213.1_Missense_Mutation_p.C145Y			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	145	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAATATACGCAATCCATATC	0.333																																																	0								ENSG00000123496						81	74	76					X																	114248419		2203	4299	6502	IL13RA2	SO:0001583	missense	0			-	HGNC	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.434G>A	X.37:g.114248419C>T	ENSP00000361004:p.Cys145Tyr	Somatic	0	80	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	A8K7E2|O00667	Missense_Mutation	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.C145Y	ENST00000371936.1	37	c.434	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691310	0.48097	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.98178	-4.77;-4.77	4.68	4.68	0.58851	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.044737	0.85682	D	0.000000	D	0.98963	0.9647	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99349	1.0914	10	0.87932	D	0	-20.5806	11.8882	0.52615	0.0:1.0:0.0:0.0	.	145;145	D0EFR8;Q14627	.;I13R2_HUMAN	Y	145	ENSP00000361004:C145Y;ENSP00000243213:C145Y	ENSP00000243213:C145Y	C	-	2	0	IL13RA2	114154675	0.973000	0.33851	0.928000	0.36995	0.551000	0.35334	4.076000	0.57591	2.290000	0.77057	0.600000	0.82982	TGC	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3		0.333	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	protein_coding	OTTHUMT00000057966.1	C	NM_000640	-		114248419	-1	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	SNP	0.884	T	T	114248419	C	T	114248419	3	4	180	1	0	0	0	0	1	0	0	0	7632	710	25	2	732	2	IL13RA2	23	114248419	Missense_Mutation	SNP	C	TCGA-MB-A5Y8-01A-11D-A29N-09	96505892	114248419	41022141	56	12700											
RBMX2	51634	genome.wustl.edu	37	chrX	129543263	129543263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttaacattaatctcgtgcGggacaagaaaactgggaaat	10	6	1	1			TCGA-MB-A5Y8-01A-11D-A29N-09	TCGA-MB-A5Y8-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3ebd13-0657-488a-b94a-c92dcb425306	2acedeb3-0a0d-4d72-b763-176d68e55d0e	g.chrX:129543263G>T	ENST00000305536.6	+	4	270	c.206G>T	c.(205-207)cGg>cTg	p.R69L	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	69	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AATCTCGTGCGGGACAAGAAA	0.378																																																	0								ENSG00000134597						73	67	69					X																	129543263		1806	4069	5875	RBMX2	SO:0001583	missense	0			-	HGNC	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.206G>T	X.37:g.129543263G>T	ENSP00000339090:p.Arg69Leu	Somatic	0	29	0		0.720140113735224				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R69L	ENST00000305536.6	37	c.206	CCDS43993.1	X	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761871	0.89932	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.75704	-0.96	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.109197	0.64402	D	0.000005	T	0.75421	0.3847	N	0.13235	0.315	0.80722	D	1	D	0.62365	0.991	D	0.66716	0.946	T	0.80264	-0.1455	10	0.87932	D	0	.	15.561	0.76244	0.0:0.0:1.0:0.0	.	69	Q9Y388	RBMX2_HUMAN	L	69	ENSP00000339090:R69L	ENSP00000339090:R69L	R	+	2	0	RBMX2	129370944	1.000000	0.71417	0.944000	0.38274	0.887000	0.51463	5.829000	0.69316	2.358000	0.79984	0.506000	0.49869	CGG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.378	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	protein_coding	OTTHUMT00000058265.1	G	NM_016024	-		129543263	1	no_errors	ENST00000305536	ensembl	human	known	74_37	missense	SNP	0.996	T	T	129543263	G	T	129543263	3	4	180	1	0	0	0	0	1	0	0	0	13160	1116	39	3	220	3	RBMX2	23	129543263	Missense_Mutation	SNP	G	TCGA-MB-A5Y8-01A-11D-A29N-09	15294844	129543263	25727297	57	12701											
FBXO42	54455	genome.wustl.edu	37	chr1	16577304	16577304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggctggtttcaggaggtCcaaccacagaactgctatta	11	10	1	1			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr1:16577304C>T	ENST00000375592.3	-	10	2231	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	672										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTCAGGAGGTCCAACCACAGA	0.468																																																	0								ENSG00000037637						191	182	185					1																	16577304		2203	4300	6503	FBXO42	SO:0001583	missense	0			-	HGNC	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2015G>A	1.37:g.16577304C>T	ENSP00000364742:p.Gly672Glu	Somatic	0	73	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.G672E	ENST00000375592.3	37	c.2015	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600939	0.66332	.	.	ENSG00000037637	ENST00000375592	T	0.11277	2.79	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29488	-1.0010	10	0.72032	D	0.01	-14.6209	18.7865	0.91957	0.0:1.0:0.0:0.0	.	672	Q6P3S6	FBX42_HUMAN	E	672	ENSP00000364742:G672E	ENSP00000364742:G672E	G	-	2	0	FBXO42	16449891	1.000000	0.71417	0.257000	0.24404	0.693000	0.40251	7.587000	0.82613	2.767000	0.95098	0.655000	0.94253	GGA	-	NULL		0.468	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	protein_coding	OTTHUMT00000006285.1	C		-		16577304	-1	no_errors	ENST00000375592	ensembl	human	known	74_37	missense	SNP	0.999	T	T	16577304	C	T	16577304	3	4	181	1	0	0	0	0	1	0	0	0	5753	855	30	2	142	2	FBXO42	1	16577304	Missense_Mutation	SNP	C	TCGA-MB-A5Y9-01A-11D-A29N-09		16577304	232673317	1	12702											
VCAM1	7412	genome.wustl.edu	37	chr1	101200244	101200244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatccgaaaggcccagtTgaaggatgcgggagtatatg	13	8	0	1			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr1:101200244T>C	ENST00000294728.2	+	8	2080	c.1979T>C	c.(1978-1980)tTg>tCg	p.L660S	VCAM1_ENST00000370115.1_Missense_Mutation_p.L461S|VCAM1_ENST00000370119.4_Missense_Mutation_p.L598S|VCAM1_ENST00000347652.2_Missense_Mutation_p.L568S	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	660	Ig-like C2-type 7.				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)			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)	AAGGCCCAGTTGAAGGATGCG	0.383																																																	0								ENSG00000162692						95	98	97					1																	101200244		2203	4300	6503	VCAM1	SO:0001583	missense	0			-	HGNC	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.1979T>C	1.37:g.101200244T>C	ENSP00000294728:p.Leu660Ser	Somatic	0	31	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.L660S	ENST00000294728.2	37	c.1979	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823844	0.32237	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.688925	0.13976	N	0.349812	T	0.33673	0.0871	L	0.56340	1.77	0.09310	N	1	D;D;D	0.76494	0.999;0.991;0.987	D;D;P	0.72075	0.976;0.974;0.887	T	0.15122	-1.0448	10	0.08837	T	0.75	-10.5976	10.9509	0.47327	0.0:0.0728:0.0:0.9272	.	598;568;660	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	S	598;568;660;461	ENSP00000359137:L598S;ENSP00000304611:L568S;ENSP00000294728:L660S;ENSP00000359133:L461S	ENSP00000294728:L660S	L	+	2	0	VCAM1	100972832	0.002000	0.14202	0.651000	0.29564	0.041000	0.13682	0.891000	0.28309	2.326000	0.78906	0.533000	0.62120	TTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.383	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	protein_coding	OTTHUMT00000030213.1	T	NM_001078	-		101200244	1	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	SNP	0.325	C	C	101200244	T	C	101200244	3	2	181	1	0	0	0	0	1	0	0	0	17144	1821	63	5	2009	5	VCAM1	1	101200244	Missense_Mutation	SNP	T	TCGA-MB-A5Y9-01A-11D-A29N-09	84622940	101200244	148050377	2	12703											
CELSR2	1952	genome.wustl.edu	37	chr1	109813851	109813851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctagatgagtgtcttcCtgtacatcctggcggcccgg	12	13	1	2			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr1:109813851C>T	ENST00000271332.3	+	26	7670	c.7609C>T	c.(7609-7611)Ctg>Ttg	p.L2537L	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2537					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGTGTCTTCCTGTACATCCT	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126						96	107	103					1																	109813851		2203	4300	6503	CELSR2	SO:0001819	synonymous_variant	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7609C>T	1.37:g.109813851C>T		Somatic	0	32	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q5T2Y7|Q92566	Silent	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2537	ENST00000271332.3	37	c.7609	CCDS796.1	1																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	C	NM_001408	-		109813851	1	no_errors	ENST00000271332	ensembl	human	known	74_37	silent	SNP	1.000	T	T	109813851	C	T	109813851	2	4	181	1	0	0	0	0	0	0	0	1	3224	680	24	2		2	CELSR2	1	109813851	Silent	SNP	C	TCGA-MB-A5Y9-01A-11D-A29N-09	8613607	109813851	139436770	3	12704											
OR2T2	401992	genome.wustl.edu	37	chr1	248616790	248616790	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gactgtccacaggatgaactCtgctgagggccggcgcaaag	14	11	1	2			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr1:248616790C>T	ENST00000342927.3	+	1	714	c.692C>T	c.(691-693)tCt>tTt	p.S231F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			AGGATGAACTCTGCTGAGGGC	0.557																																																	0								ENSG00000196240						87	63	71					1																	248616790		2189	4261	6450	OR2T2	SO:0001583	missense	0			-	HGNC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.692C>T	1.37:g.248616790C>T	ENSP00000343062:p.Ser231Phe	Somatic	0	32	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	B2RNM1|B9EH01	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S231F	ENST00000342927.3	37	c.692	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	c	10.57	1.388383	0.25118	.	.	ENSG00000196240	ENST00000342927	T	0.00340	8.04	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.145157	0.32258	N	0.006350	T	0.01222	0.0040	H	0.95437	3.67	0.31853	N	0.621979	D	0.89917	1.0	D	0.91635	0.999	T	0.01914	-1.1248	10	0.87932	D	0	.	13.6086	0.62063	0.0:1.0:0.0:0.0	.	231	Q6IF00	OR2T2_HUMAN	F	231	ENSP00000343062:S231F	ENSP00000343062:S231F	S	+	2	0	OR2T2	246683413	0.000000	0.05858	0.291000	0.24904	0.013000	0.08279	0.358000	0.20216	1.682000	0.51000	0.298000	0.19748	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.557	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	protein_coding	OTTHUMT00000097421.1	C	NM_001004136	-		248616790	1	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	SNP	0.734	T	T	248616790	C	T	248616790	3	4	181	1	0	0	0	0	1	0	0	0	11022	913	32	2	694	2	OR2T2	1	248616790	Missense_Mutation	SNP	C	TCGA-MB-A5Y9-01A-11D-A29N-09	138802939	248616790	633831	4	12705											
RGPD4	285190	genome.wustl.edu	37	chr2	108479247	108479247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggttctttgcgaaatgCggattcagaaataaaacatt	8	5	2	1			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr2:108479247C>T	ENST00000408999.3	+	16	2392	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD4_ENST00000354986.4_Missense_Mutation_p.A772V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	772					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGCGAAATGCGGATTCAGAA	0.368																																																	0								ENSG00000196862						34	31	32					2																	108479247		377	927	1304	RGPD4	SO:0001583	missense	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2315C>T	2.37:g.108479247C>T	ENSP00000386810:p.Ala772Val	Somatic	0	132	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	132	10.20	B9A029	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A772V	ENST00000408999.3	37	c.2315	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	9.686	1.150676	0.21371	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.23348	1.91;1.91	2.3	1.37	0.22104	.	.	.	.	.	T	0.20292	0.0488	L	0.47716	1.5	0.23376	N	0.997802	B	0.15141	0.012	B	0.06405	0.002	T	0.16630	-1.0396	9	0.42905	T	0.14	-0.1623	6.3879	0.21572	0.0:0.8312:0.0:0.1688	.	772	Q7Z3J3	RGPD4_HUMAN	V	772;772;530	ENSP00000347081:A772V;ENSP00000386810:A772V	ENSP00000347081:A772V	A	+	2	0	RGPD4	107845679	0.832000	0.29368	0.909000	0.35828	0.075000	0.17131	0.083000	0.14871	1.299000	0.44798	0.152000	0.16155	GCG	-	NULL		0.368	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	C	XM_496581	-		108479247	1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	SNP	0.894	T	T	108479247	C	T	108479247	3	4	181	1	0	0	0	0	1	0	0	0	13296	768	27	1	2377	1	RGPD4	2	108479247	Missense_Mutation	SNP	C	TCGA-MB-A5Y9-01A-11D-A29N-09		108479247	134720126	5	12706											
TLL1	7092	genome.wustl.edu	37	chr4	166914025	166914025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttatagacaggataagaaGaattggctttggtatatcaa	9	4	1	3			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr4:166914025G>A	ENST00000061240.2	+	3	997	c.350G>A	c.(349-351)aGa>aAa	p.R117K	TLL1_ENST00000513213.1_Missense_Mutation_p.R117K|TLL1_ENST00000507499.1_Missense_Mutation_p.R117K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	117					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGATAAGAAGAATTGGCTTT	0.368																																																	0								ENSG00000038295						103	102	102					4																	166914025		2203	4299	6502	TLL1	SO:0001583	missense	0			-	HGNC	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.350G>A	4.37:g.166914025G>A	ENSP00000061240:p.Arg117Lys	Somatic	0	43	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R117K	ENST00000061240.2	37	c.350	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972970	0.53614	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.79454	0.54;0.48;0.4;-1.27	5.52	5.52	0.82312	.	0.057900	0.64402	U	0.000005	T	0.62575	0.2439	L	0.28274	0.84	0.47659	D	0.999483	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.57004	-0.7885	10	0.05833	T	0.94	.	13.698	0.62591	0.0738:0.0:0.9262:0.0	.	117;117	E9PD25;O43897	.;TLL1_HUMAN	K	117;117;117;17	ENSP00000061240:R117K;ENSP00000426082:R117K;ENSP00000422937:R117K;ENSP00000423748:R17K	ENSP00000061240:R117K	R	+	2	0	TLL1	167133475	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.679000	0.74513	2.599000	0.87857	0.563000	0.77884	AGA	-	pirsf_BMP_1/tolloid-like		0.368	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	protein_coding	OTTHUMT00000363821.1	G		-		166914025	1	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	SNP	1.000	A	A	166914025	G	A	166914025	3	1	181	1	0	0	0	0	1	0	0	0	15952	942	33	2	360	2	TLL1	4	166914025	Missense_Mutation	SNP	G	TCGA-MB-A5Y9-01A-11D-A29N-09		166914025	24240251	6	12707											
PCDHA5	56143	genome.wustl.edu	37	chr5	140202722	140202722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgacaacgctccggcgttCgcgcagccccagtataccgt	10	16	0	0	rs536422534	byFrequency	TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr5:140202722C>T	ENST00000529859.1	+	1	1362	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	PCDHA5_ENST00000378126.3_Silent_p.F454F|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.F454F|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	454	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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCGTTCGCGCAGCCCC	0.677													.|||	3	0.000599042	0	0	5008	,	,		17146	0		0	False		,,,				2504	0.0031																0								ENSG00000204965						72	74	74					5																	140202722		2203	4300	6503	PCDHA5	SO:0001819	synonymous_variant	0			-	HGNC	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1362C>T	5.37:g.140202722C>T		Somatic	0	114	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	113	28.93	O75284|Q8N4R3	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F454	ENST00000529859.1	37	c.1362	CCDS54917.1	5																																																																																			-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	protein_coding	OTTHUMT00000372883.2	C	NM_018908	-		140202722	1	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	SNP	0.085	T	T	140202722	C	T	140202722	2	4	181	1	0	0	0	0	0	0	0	1	11529	883	31	1		1	PCDHA5	5	140202722	Silent	SNP	C	TCGA-MB-A5Y9-01A-11D-A29N-09		140202722	40712538	7	12708											
C6orf10	10665	genome.wustl.edu	37	chr6	32261597	32261597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccattcctattttgtcttTctctaaatcagtgccttttc	3	12	3	0			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr6:32261597T>C	ENST00000447241.2	-	23	1025	c.853A>G	c.(853-855)Aaa>Gaa	p.K285E	C6orf10_ENST00000375015.4_Missense_Mutation_p.K284E|C6orf10_ENST00000375007.4_Missense_Mutation_p.K283E|C6orf10_ENST00000533191.1_Missense_Mutation_p.K283E|C6orf10_ENST00000527965.1_Missense_Mutation_p.K269E|C6orf10_ENST00000442822.2_Missense_Mutation_p.K276E	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	285						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATTTTGTCTTTCTCTAAATCA	0.388																																																	0								ENSG00000204296						255	259	258					6																	32261597		1511	2709	4220	C6orf10	SO:0001583	missense	0			-	HGNC	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.853A>G	6.37:g.32261597T>C	ENSP00000415517:p.Lys285Glu	Somatic	0	55	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP							NULL	p.K285E	ENST00000447241.2	37	c.853	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286712	0.59867	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04862	3.57;3.58;3.54;3.55;3.56;3.55	3.57	-1.56	0.08532	.	.	.	.	.	T	0.07638	0.0192	L	0.59436	1.845	0.09310	N	1	B;D	0.67145	0.376;0.996	B;D	0.76071	0.084;0.987	T	0.16571	-1.0398	9	0.42905	T	0.14	-9.4327	8.7353	0.34525	0.0:0.534:0.0:0.466	.	285;276	Q5SRN2;C9J9T8	CF010_HUMAN;.	E	276;285;284;283;269;283;284;282	ENSP00000411164:K276E;ENSP00000415517:K285E;ENSP00000364155:K284E;ENSP00000431199:K283E;ENSP00000435103:K269E;ENSP00000364146:K283E	ENSP00000303292:K282E	K	-	1	0	C6orf10	32369575	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	0.044000	0.13992	-0.282000	0.09128	0.455000	0.32223	AAA	-	NULL		0.388	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	protein_coding	OTTHUMT00000076178.4	T	NM_006781	-		32261597	-1	no_errors	ENST00000447241	ensembl	human	known	74_37	missense	SNP	0.001	C	C	32261597	T	C	32261597	3	2	181	1	0	0	0	0	1	0	0	0	2319	1792	62	5	842	5	C6orf10	6	32261597	Missense_Mutation	SNP	T	TCGA-MB-A5Y9-01A-11D-A29N-09		32261597	138853470	8	12709											
C9orf152	401546	genome.wustl.edu	37	chr9	112963433	112963433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgggcagcctctgggAttccggttccttgctgagtc	14	11	1	1			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr9:112963433A>T	ENST00000400613.4	-	2	1124	c.515T>A	c.(514-516)aTc>aAc	p.I172N	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	172										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGCCTCTGGGATTCCGGTTCC	0.493																																																	0								ENSG00000188959						170	156	161					9																	112963433		2203	4300	6503	C9orf152	SO:0001583	missense	0			-	HGNC	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.515T>A	9.37:g.112963433A>T	ENSP00000383456:p.Ile172Asn	Somatic	0	40	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	A8MWT6	Missense_Mutation	SNP							NULL	p.I172N	ENST00000400613.4	37	c.515	CCDS35102.2	9	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300182	0.23650	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.32	-2.28	0.06826	.	1.222500	0.05776	N	0.607715	T	0.24890	0.0604	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.26573	-1.0099	9	0.51188	T	0.08	0.3381	4.9001	0.13769	0.4796:0.0:0.3774:0.143	.	172	Q5JTZ5	CI152_HUMAN	N	172	.	ENSP00000383456:I172N	I	-	2	0	C9orf152	112003254	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.187000	0.09656	-0.400000	0.07656	0.533000	0.62120	ATC	-	NULL		0.493	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf152	protein_coding	OTTHUMT00000053602.2	A	NM_001012993	-		112963433	-1	no_errors	ENST00000400613	ensembl	human	known	74_37	missense	SNP	0.001	T	T	112963433	A	T	112963433	3	4	181	1	0	0	0	0	1	0	0	0	2465	333	12	5	208	5	C9orf152	9	112963433	Missense_Mutation	SNP	A	TCGA-MB-A5Y9-01A-11D-A29N-09		112963433	28249998	9	12710											
ZNF488	118738	genome.wustl.edu	37	chr10	48370980	48370980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagcaaagtcttctctGtgtggcccagcggagcacga	13	12	2	0	rs202233826		TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr10:48370980G>A	ENST00000395702.2	+	2	675	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	ZNF488_ENST00000586537.1_Missense_Mutation_p.V43M|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	150					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGTCTTCTCTGTGTGGCCCAG	0.612																																																	0								ENSG00000165388						51	51	51					10																	48370980		2203	4300	6503	ZNF488	SO:0001583	missense	0			-	HGNC	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.448G>A	10.37:g.48370980G>A	ENSP00000379054:p.Val150Met	Somatic	0	33	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q05CE0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V150M	ENST00000395702.2	37	c.448	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	g	17.04	3.286154	0.59867	.	.	ENSG00000165388	ENST00000395702	T	0.28895	1.59	5.54	2.69	0.31865	.	1.014320	0.07905	N	0.973381	T	0.29321	0.0730	L	0.48642	1.525	0.19945	N	0.999947	P	0.43431	0.807	B	0.39217	0.294	T	0.18053	-1.0349	10	0.72032	D	0.01	.	9.8122	0.40831	0.2219:0.0:0.7781:0.0	.	150	Q96MN9	ZN488_HUMAN	M	150	ENSP00000379054:V150M	ENSP00000379054:V150M	V	+	1	0	ZNF488	47990986	0.747000	0.28283	0.010000	0.14722	0.585000	0.36419	3.198000	0.51035	0.302000	0.22762	0.556000	0.70494	GTG	-	NULL		0.612	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	protein_coding	OTTHUMT00000314632.1	G	NM_153034	-		48370980	1	no_errors	ENST00000395702	ensembl	human	known	74_37	missense	SNP	0.801	A	A	48370980	G	A	48370980	3	1	181	1	0	0	0	0	1	0	0	0	17947	1377	48	2	450	2	ZNF488	10	48370980	Missense_Mutation	SNP	G	TCGA-MB-A5Y9-01A-11D-A29N-09		48370980	87163767	10	12711											
TBC1D4	9882	genome.wustl.edu	37	chr13	75930351	75930351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctctggagactcccGgcagataaagccaaagtgat	11	11	1	3	rs377252828		TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr13:75930351G>A	ENST00000377636.3	-	4	1553	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R403W|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R403W|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	403	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)			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)		GGAGACTCCCGGCAGATAAAG	0.413																																																	0								ENSG00000136111	G	TRP/ARG	0,3824		0,0,1912	62	60	60		1207	6.1	1	13		60	4,8270		0,4,4133	no	missense	TBC1D4	NM_014832.2	101	0,4,6045	AA,AG,GG		0.0483,0.0,0.0331	probably-damaging	403/1299	75930351	4,12094	1912	4137	6049	TBC1D4	SO:0001583	missense	0			-	HGNC	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.1207C>T	13.37:g.75930351G>A	ENSP00000366863:p.Arg403Trp	Somatic	0	29	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.R403W	ENST00000377636.3	37	c.1207	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.508306	0.96386	0.0	4.83E-4	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.18960	2.18;2.18;2.18	6.06	6.06	0.98353	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000010	T	0.51160	0.1658	M	0.75615	2.305	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	T	0.47315	-0.9127	10	0.87932	D	0	-29.2539	20.6397	0.99537	0.0:0.0:1.0:0.0	.	403;403;403	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	W	403	ENSP00000366863:R403W;ENSP00000395986:R403W;ENSP00000366852:R403W	ENSP00000366852:R403W	R	-	1	2	TBC1D4	74828352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.584000	0.74057	2.880000	0.98712	0.650000	0.86243	CGG	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	protein_coding	OTTHUMT00000045283.1	G	NM_014832	-		75930351	-1	no_errors	ENST00000377636	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75930351	G	A	75930351	3	1	181	1	0	0	0	0	1	0	0	0	15629	1115	39	1	2761	1	TBC1D4	13	75930351	Missense_Mutation	SNP	G	TCGA-MB-A5Y9-01A-11D-A29N-09		75930351	39239527	11	12712											
CHRM5	1133	genome.wustl.edu	37	chr15	34355670	34355670	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctcatagggctctgttcaGatcctgcttgcgctgtcctc	10	13	3	1			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr15:34355670G>A	ENST00000383263.5	+	3	1422	c.752G>A	c.(751-753)aGa>aAa	p.R251K	CHRM5_ENST00000557872.1_Missense_Mutation_p.R251K	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	251					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R251K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCTCTGTTCAGATCCTGCTTG	0.602																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000184984						78	78	78					15																	34355670		2201	4298	6499	CHRM5	SO:0001583	missense	0			-	HGNC		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.752G>A	15.37:g.34355670G>A	ENSP00000372750:p.Arg251Lys	Somatic	0	23	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q96RG7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.R251K	ENST00000383263.5	37	c.752	CCDS10031.1	15	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.828724	0.00584	.	.	ENSG00000184984	ENST00000383263	T	0.61274	0.12	5.32	0.975	0.19721	GPCR, rhodopsin-like superfamily (1);	0.345212	0.29572	N	0.011763	T	0.27169	0.0666	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.17471	-1.0368	10	0.10902	T	0.67	-1.1529	6.1003	0.20043	0.1528:0.5964:0.2507:0.0	.	251	P08912	ACM5_HUMAN	K	251	ENSP00000372750:R251K	ENSP00000372750:R251K	R	+	2	0	CHRM5	32142962	0.926000	0.31397	0.584000	0.28653	0.388000	0.30384	1.547000	0.36190	0.357000	0.24183	0.585000	0.79938	AGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.602	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	protein_coding	OTTHUMT00000251521.2	G		-		34355670	1	no_errors	ENST00000383263	ensembl	human	known	74_37	missense	SNP	0.040	A	A	34355670	G	A	34355670	3	1	181	1	0	0	0	0	1	0	0	0	3382	942	33	2	754	2	CHRM5	15	34355670	Missense_Mutation	SNP	G	TCGA-MB-A5Y9-01A-11D-A29N-09		34355670	68175722	12	12713											
RBPMS2	348093	genome.wustl.edu	37	chr15	65033426	65033426	+	Frame_Shift_Del	DEL	A	A	-													ttgctgggtggtgtcagaggAagggtaccagcgcacctgca							TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr15:65033426delA	ENST00000300069.4	-	7	850	c.583delT	c.(583-585)tccfs	p.S196fs	RBPMS2_ENST00000560606.1_Frame_Shift_Del_p.S85fs	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	196							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GTGTCAGAGGAAGGGTACCAG	0.572																																																	0								ENSG00000166831						81	62	68					15																	65033426		2200	4299	6499	RBPMS2	SO:0001589	frameshift_variant	0				HGNC	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"RNA binding motif (RRM) containing"	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.583delT	15.37:g.65033426delA	ENSP00000300069:p.Ser196fs	Somatic	0	22	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	A2RRG0	Frame_Shift_Del	DEL							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S195fs	ENST00000300069.4	37	c.583	CCDS32271.1	15																																																																																			-	NULL		0.572	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBPMS2	protein_coding	OTTHUMT00000418466.1	A				65033426	-1	no_errors	ENST00000300069	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	65033426	A	-	65033426	7	5	181	1	0	1	0	1	0	0	0	0	13172	246	9	0	50	0	RBPMS2	15	65033426	Frame_Shift_Del	DEL	A	TCGA-MB-A5Y9-01A-11D-A29N-09	30677756	65033426	37497966	13	12714											
PRKCB	5579	genome.wustl.edu	37	chr16	24202517	24202517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgggagaaacttgaacGcaaagagatccagccccctt	10	10	0	4	rs563116744		TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr16:24202517G>A	ENST00000321728.7	+	16	2004	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	PRKCB_ENST00000303531.7_Missense_Mutation_p.R610H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	610	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R610H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAACTTGAACGCAAAGAGATC	0.478													G|||	1	0.000199681	0	0	5008	,	,		18802	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(2)						ENSG00000166501						120	122	122					16																	24202517		2197	4300	6497	PRKCB	SO:0001583	missense	0			-	HGNC	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1829G>A	16.37:g.24202517G>A	ENSP00000318315:p.Arg610His	Somatic	0	45	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.R610H	ENST00000321728.7	37	c.1829	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536078	0.64972	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.54071	0.59;0.59	5.79	5.79	0.91817	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.124523	0.56097	D	0.000028	T	0.42787	0.1218	L	0.31207	0.915	0.42943	D	0.994353	B;B	0.21225	0.053;0.031	B;B	0.14578	0.011;0.005	T	0.24154	-1.0168	10	0.18710	T	0.47	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	610;610	P05771-2;P05771	.;KPCB_HUMAN	H	610	ENSP00000318315:R610H;ENSP00000305355:R610H	ENSP00000305355:R610H	R	+	2	0	PRKCB	24110018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.857000	0.48349	2.744000	0.94065	0.650000	0.86243	CGC	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g		0.478	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	protein_coding	OTTHUMT00000254504.2	G	NM_212535	-		24202517	1	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24202517	G	A	24202517	3	1	181	1	0	0	0	0	1	0	0	0	12513	1087	38	1	1891	1	PRKCB	16	24202517	Missense_Mutation	SNP	G	TCGA-MB-A5Y9-01A-11D-A29N-09		24202517	66152236	14	12715											
TP53	7157	genome.wustl.edu	37	chr17	7577010	7577018	+	Splice_Site	DEL	CTTGCTTAC	CTTGCTTAC	-													ctccaccgcttcttgtcctgCttgcttacctcgcttagtgc					rs199527475		TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	CTTGCTTAC	CTTGCTTAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr17:7577010_7577018delCTTGCTTAC	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_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.?(32)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TCTTGTCCTGCTTGCTTACCTCGCTTAGT	0.56		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	42	Unknown(32)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|large_intestine(2)|stomach(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	GRCh37	CD920913	TP53	D		ENSG00000141510																																			TP53	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;		HGNC	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.919+1GTAAGCAAG>-	17.37:g.7577010_7577018delCTTGCTTAC		Somatic					0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1				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	DEL							-	e7+1	ENST00000269305.4	37	c.919+1_919+1	CCDS11118.1	17																																																																																			-	-		0.56	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	CTTGCTTAC	NM_000546		Intron	7577018	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site_del	DEL	0.000:0.000:0.001:0.070:0.132:0.231:0.250:0.853:0.976	-	-	7577018	CTTGCTTAC	-	7577010	8	5	181	1	0	1	0	1	0	0	1	0	16388	812	28	0		0	TP53	17	7577010	Splice_Site	DEL	CTTGCTTAC	TCGA-MB-A5Y9-01A-11D-A29N-09		7577010	73618200	15	12716											
PKN1	5585	genome.wustl.edu	37	chr19	14581437	14581437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgacagcatcgtcaaCgacgaggttcgctacccccg	10	15	2	0	rs367563299		TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chr19:14581437C>T	ENST00000242783.6	+	20	2652	c.2487C>T	c.(2485-2487)aaC>aaT	p.N829N	PKN1_ENST00000342216.4_Silent_p.N835N	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	829	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCATCGTCAACGACGAGGTTC	0.677													C|||	1	0.000199681	0	0	5008	,	,		16759	0.001		0	False		,,,				2504	0				NSCLC(185;2539 2965 10733 52867)												0								ENSG00000123143	C	,	0,3996		0,0,1998	22	26	25		2487,2505	-5.7	0.7	19		25	1,8303		0,1,4151	no	coding-synonymous,coding-synonymous	PKN1	NM_002741.3,NM_213560.1	,	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	,	829/943,835/949	14581437	1,12299	1998	4152	6150	PKN1	SO:0001819	synonymous_variant	0			-	HGNC	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2487C>T	19.37:g.14581437C>T		Somatic	0	52	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP							pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.N835	ENST00000242783.6	37	c.2505	CCDS42513.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	protein_coding	OTTHUMT00000095510.1	C	NM_002741, NM_213560	-		14581437	1	no_errors	ENST00000342216	ensembl	human	known	74_37	silent	SNP	0.889	T	T	14581437	C	T	14581437	2	4	181	1	0	0	0	0	0	0	0	1	11981	535	19	1		1	PKN1	19	14581437	Silent	SNP	C	TCGA-MB-A5Y9-01A-11D-A29N-09		14581437	44547546	16	12717											
DMD	1756	genome.wustl.edu	37	chrX	32583996	32583996	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttctagatccgcttttaaAacctgttaaaacaagaaaga	5	7	1	3			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chrX:32583996A>T	ENST00000357033.4	-	16	2021	c.1815T>A	c.(1813-1815)gtT>gtA	p.V605V	DMD_ENST00000288447.4_Silent_p.V597V|DMD_ENST00000378677.2_Silent_p.V601V	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	605					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)				CCGCTTTTAAAACCTGTTAAA	0.373																																																	0								ENSG00000198947						97	80	85					X																	32583996		2202	4300	6502	DMD	SO:0001819	synonymous_variant	0			-	HGNC	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.1815T>A	X.37:g.32583996A>T		Somatic	0	30	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.V605	ENST00000357033.4	37	c.1815	CCDS14233.1	X																																																																																			-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	A	NM_004006	-		32583996	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	SNP	0.611	T	T	32583996	A	T	32583996	2	4	181	1	0	0	0	0	0	0	0	1	4582	1	1	5		5	DMD	23	32583996	Silent	SNP	A	TCGA-MB-A5Y9-01A-11D-A29N-09		32583996	122686564	17	12718											
FAM47C	442444	genome.wustl.edu	37	chrX	37027132	37027132	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccgcccggagcctccagagActggagtgtcccatctccgc	11	17	1	1			TCGA-MB-A5Y9-01A-11D-A29N-09	TCGA-MB-A5Y9-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	055a030d-bb19-4224-98bf-cb860ff64b9d	109e7716-d7ac-4834-a63d-f88057eb4e6c	g.chrX:37027132A>T	ENST00000358047.3	+	1	701	c.649A>T	c.(649-651)Act>Tct	p.T217S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	217										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTCCAGAGACTGGAGTGTC	0.662																																																	0								ENSG00000198173						35	36	36					X																	37027132		2202	4299	6501	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.649A>T	X.37:g.37027132A>T	ENSP00000367913:p.Thr217Ser	Somatic	0	44	0		0.500167734716372				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	59	10.45	Q6ZU46	Missense_Mutation	SNP							NULL	p.T217S	ENST00000358047.3	37	c.649	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265133	0.23136	.	.	ENSG00000198173	ENST00000358047	T	0.18174	2.23	1.03	-0.238	0.13055	.	.	.	.	.	T	0.10680	0.0261	L	0.49126	1.545	0.20563	N	0.999884	P	0.41041	0.736	B	0.31812	0.136	T	0.23154	-1.0196	9	0.27785	T	0.31	.	3.8702	0.09033	0.3709:0.0:0.6291:0.0	.	217	Q5HY64	FA47C_HUMAN	S	217	ENSP00000367913:T217S	ENSP00000367913:T217S	T	+	1	0	FAM47C	36937053	0.005000	0.15991	0.020000	0.16555	0.021000	0.10359	0.120000	0.15647	0.245000	0.21373	0.242000	0.17961	ACT	-	NULL		0.662	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	A	NM_001013736	-		37027132	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.964	T	T	37027132	A	T	37027132	3	4	181	1	0	0	0	0	1	0	0	0	5573	275	10	5	651	5	FAM47C	23	37027132	Missense_Mutation	SNP	A	TCGA-MB-A5Y9-01A-11D-A29N-09	4443136	37027132	118243428	18	12719											
SH2D5	400745	genome.wustl.edu	37	chr1	21053559	21053559	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgacggcccggcgtcGgggacagtcctgggtggaaa	18	10	0	1			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr1:21053559G>A	ENST00000444387.2	-	4	575	c.178C>T	c.(178-180)Cga>Tga	p.R60*	SH2D5_ENST00000375031.1_5'UTR|SH2D5_ENST00000460804.1_Intron	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	60										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCGGCGTCGGGGACAGTCC	0.622																																																	0								ENSG00000189410						50	59	56					1																	21053559		1984	4150	6134	SH2D5	SO:0001587	stop_gained	0			-	HGNC	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.178C>T	1.37:g.21053559G>A	ENSP00000406026:p.Arg60*	Somatic	0	60	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	57	43.56	B7Z3W3|Q5SSJ2	Nonsense_Mutation	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2	p.R60*	ENST00000444387.2	37	c.178	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669345	0.29693	.	.	ENSG00000189410	ENST00000444387;ENST00000518294;ENST00000517430;ENST00000519434	.	.	.	3.78	0.219	0.15274	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7895	0.23692	0.0:0.1317:0.2726:0.5957	.	.	.	.	X	60	.	ENSP00000406026:R60X	R	-	1	2	SH2D5	20926146	0.982000	0.34865	0.908000	0.35775	0.255000	0.26057	1.052000	0.30429	-0.026000	0.13895	0.462000	0.41574	CGA	-	smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.622	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	protein_coding	OTTHUMT00000007455.2	G	XM_375698	-		21053559	-1	no_errors	ENST00000444387	ensembl	human	known	74_37	nonsense	SNP	0.990	A	A	21053559	G	A	21053559	4	1	182	1	0	0	0	0	0	1	0	0	14245	1124	39	1	1121	1	SH2D5	1	21053559	Nonsense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09		21053559	228197062	1	12720											
OR10J5	127385	genome.wustl.edu	37	chr1	159504982	159504982	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtacgtcactgagagAacaaggtctttttctattga	10	6	3	3			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr1:159504982A>T	ENST00000334857.2	-	1	860	c.816T>A	c.(814-816)gtT>gtA	p.V272V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TCACTGAGAGAACAAGGTCTT	0.488																																																	0								ENSG00000184155						89	86	87					1																	159504982		2203	4300	6503	OR10J5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.816T>A	1.37:g.159504982A>T		Somatic	0	57	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	35.53	B9EH35|Q6IFH2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V272	ENST00000334857.2	37	c.816	CCDS30910.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	protein_coding	OTTHUMT00000059021.1	A	NM_001004469	-		159504982	-1	no_errors	ENST00000334857	ensembl	human	known	74_37	silent	SNP	0.155	T	T	159504982	A	T	159504982	2	4	182	1	0	0	0	0	0	0	0	1	10914	233	9	5		5	OR10J5	1	159504982	Silent	SNP	A	TCGA-MB-A5YA-01A-11D-A29N-09	138451423	159504982	89745639	2	12721											
NCKAP5	344148	genome.wustl.edu	37	chr2	133554264	133554264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacctctgaaagcaaAtctccagatgaaagatccaa	5	12	2	4			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr2:133554264A>G	ENST00000409261.1	-	12	1219	c.846T>C	c.(844-846)gaT>gaC	p.D282D	NCKAP5_ENST00000405974.3_Silent_p.D282D|NCKAP5_ENST00000409213.1_Silent_p.D282D|NCKAP5_ENST00000317721.6_Silent_p.D282D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	282										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						CTGAAAGCAAATCTCCAGATG	0.413																																																	0								ENSG00000176771						69	68	69					2																	133554264		1882	4111	5993	NCKAP5	SO:0001819	synonymous_variant	0			-	HGNC	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.846T>C	2.37:g.133554264A>G		Somatic	0	29	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP							NULL	p.D282	ENST00000409261.1	37	c.846	CCDS46418.1	2																																																																																			-	NULL		0.413	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	protein_coding	OTTHUMT00000331663.1	A	NM_207481	-		133554264	-1	no_errors	ENST00000317721	ensembl	human	known	74_37	silent	SNP	1.000	G	G	133554264	A	G	133554264	2	3	182	1	0	0	0	0	0	0	0	1	10225	98	4	5		5	NCKAP5	2	133554264	Silent	SNP	A	TCGA-MB-A5YA-01A-11D-A29N-09		133554264	109645109	3	12722											
PKP4	8502	genome.wustl.edu	37	chr2	159536984	159536984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgactccaacagaaagaActttgatgcatacagattgt	8	7	0	6			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr2:159536984A>G	ENST00000389759.3	+	22	3486	c.3374A>G	c.(3373-3375)aAc>aGc	p.N1125S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.N1082S|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1125					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AACAGAAAGAACTTTGATGCA	0.333										HNSCC(62;0.18)																																							0								ENSG00000144283						94	88	90					2																	159536984		2203	4300	6503	PKP4	SO:0001583	missense	0			-	HGNC	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3374A>G	2.37:g.159536984A>G	ENSP00000374409:p.Asn1125Ser	Somatic	0	32	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	8.93	Q86W91	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.N1125S	ENST00000389759.3	37	c.3374	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340582	0.24339	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.74632	-0.86;-0.82	5.49	4.32	0.51571	.	0.547043	0.20411	N	0.092849	T	0.64832	0.2634	N	0.24115	0.695	0.42295	D	0.992157	B;D;B	0.57571	0.07;0.98;0.245	B;P;B	0.45639	0.063;0.488;0.111	T	0.65307	-0.6200	10	0.45353	T	0.12	-9.5907	12.6329	0.56667	0.8567:0.1433:0.0:0.0	.	1080;1082;1125	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	S	1082;1125	ENSP00000374407:N1082S;ENSP00000374409:N1125S	ENSP00000374407:N1082S	N	+	2	0	PKP4	159245230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.946000	0.56644	0.999000	0.39023	0.533000	0.62120	AAC	-	NULL		0.333	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	protein_coding	OTTHUMT00000333250.1	A		-		159536984	1	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	SNP	1.000	G	G	159536984	A	G	159536984	3	3	182	1	0	0	0	0	1	0	0	0	11989	43	2	5	3456	5	PKP4	2	159536984	Missense_Mutation	SNP	A	TCGA-MB-A5YA-01A-11D-A29N-09	25982720	159536984	83662389	4	12723											
DOCK10	55619	genome.wustl.edu	37	chr2	225739435	225739435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatctgtttcctctggcGtgcattcacaagttacagaa	8	9	3	2	rs147869852		TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr2:225739435G>A	ENST00000258390.7	-	9	1032	c.965C>T	c.(964-966)aCg>aTg	p.T322M	DOCK10_ENST00000409592.3_Missense_Mutation_p.T316M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	322					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)		TTCCTCTGGCGTGCATTCACA	0.363																																																	0								ENSG00000135905						156	148	150					2																	225739435		1879	4107	5986	DOCK10	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.965C>T	2.37:g.225739435G>A	ENSP00000258390:p.Thr322Met	Somatic	0	71	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	86	21.82	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T322M	ENST00000258390.7	37	c.965	CCDS46528.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.12	1.261811	0.23051	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03330	3.97;3.97	5.4	3.61	0.41365	.	0.649821	0.15714	N	0.248232	T	0.04048	0.0113	N	0.14661	0.345	0.25908	N	0.983269	P;D;P	0.56968	0.935;0.978;0.935	B;P;B	0.48166	0.222;0.569;0.222	T	0.40021	-0.9585	10	0.59425	D	0.04	.	10.6662	0.45732	0.1497:0.0:0.8503:0.0	.	322;322;316	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	M	316;322	ENSP00000386694:T316M;ENSP00000258390:T322M	ENSP00000258390:T322M	T	-	2	0	DOCK10	225447679	0.973000	0.33851	0.425000	0.26659	0.077000	0.17291	1.904000	0.39868	0.675000	0.31264	-0.232000	0.12228	ACG	-	NULL		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G		rs147869852		225739435	-1	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	SNP	0.843	A	A	225739435	G	A	225739435	3	1	182	1	0	0	0	0	1	0	0	0	4687	1145	40	1	5787	1	DOCK10	2	225739435	Missense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09	66202451	225739435	17459938	5	12724											
IL5RA	3568	genome.wustl.edu	37	chr3	3111914	3111914	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaagtgacagtcaaaAcacagaatcctccagggtct	8	11	2	2			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr3:3111914A>C	ENST00000446632.2	-	12	1832	c.1258T>G	c.(1258-1260)Ttt>Gtt	p.F420V	IL5RA_ENST00000445864.2_Missense_Mutation_p.F211V|IL5RA_ENST00000256452.3_Missense_Mutation_p.F420V|IL5RA_ENST00000418488.2_Missense_Mutation_p.F325V|IL5RA_ENST00000438560.1_3'UTR	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	420					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GACAGTCAAAACACAGAATCC	0.458																																					GBM(169;430 2801 24955 28528)												0								ENSG00000091181						193	194	194					3																	3111914		2203	4300	6503	IL5RA	SO:0001583	missense	0			-	HGNC	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.1258T>G	3.37:g.3111914A>C	ENSP00000412209:p.Phe420Val	Somatic	0	48	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.F420V	ENST00000446632.2	37	c.1258	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	A	19.65	3.868095	0.72065	.	.	ENSG00000091181	ENST00000446632;ENST00000353055;ENST00000256452;ENST00000418488;ENST00000445864	D;D;T;T	0.89343	-2.5;-2.5;0.55;0.93	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000020	D	0.93844	0.8031	M	0.81802	2.56	0.29419	N	0.860695	D;D;D;D	0.89917	0.975;1.0;1.0;0.973	P;D;D;P	0.87578	0.685;0.998;0.994;0.73	D	0.90501	0.4474	10	0.66056	D	0.02	.	11.4662	0.50241	1.0:0.0:0.0:0.0	.	420;211;325;140	Q01344;B3IU77;E7ERY4;Q14632	IL5RA_HUMAN;.;.;.	V	420;150;420;325;211	ENSP00000412209:F420V;ENSP00000256452:F420V;ENSP00000388858:F325V;ENSP00000402598:F211V	ENSP00000256452:F420V	F	-	1	0	IL5RA	3086914	0.973000	0.33851	1.000000	0.80357	0.885000	0.51271	2.593000	0.46180	1.942000	0.56320	0.533000	0.62120	TTT	-	NULL		0.458	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	protein_coding	OTTHUMT00000337537.2	A		-		3111914	-1	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3111914	A	C	3111914	3	2	182	1	0	0	0	0	1	0	0	0	7702	43	2	5	8	5	IL5RA	3	3111914	Missense_Mutation	SNP	A	TCGA-MB-A5YA-01A-11D-A29N-09		3111914	194910516	6	12725											
RAD54L2	23132	genome.wustl.edu	37	chr3	51680404	51680404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaggaagacaaacgcaCatcagtcccctatacccgcc	7	15	1	2			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr3:51680404C>T	ENST00000409535.2	+	18	3058	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.T672I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	978						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GACAAACGCACATCAGTCCCC	0.507																																																	0								ENSG00000164080						163	133	144					3																	51680404		2203	4300	6503	RAD54L2	SO:0001583	missense	0			-	HGNC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2933C>T	3.37:g.51680404C>T	ENSP00000386520:p.Thr978Ile	Somatic	0	19	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73	Q8TB57|Q9BV54	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T978I	ENST00000409535.2	37	c.2933	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326172	0.60743	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93189	-3.07;-3.18	5.6	5.6	0.85130	.	0.048377	0.85682	D	0.000000	D	0.87529	0.6200	N	0.14661	0.345	0.46376	D	0.999015	B;B	0.20459	0.045;0.001	B;B	0.14023	0.01;0.0	T	0.82343	-0.0504	10	0.27785	T	0.31	-9.378	18.6053	0.91264	0.0:1.0:0.0:0.0	.	978;567	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	I	978;672	ENSP00000386520:T978I;ENSP00000296477:T672I	ENSP00000296477:T672I	T	+	2	0	RAD54L2	51655444	1.000000	0.71417	0.940000	0.37924	0.965000	0.64279	7.441000	0.80485	2.638000	0.89438	0.462000	0.41574	ACA	-	NULL		0.507	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	protein_coding	OTTHUMT00000328700.2	C	NM_015106	-		51680404	1	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51680404	C	T	51680404	3	4	182	1	0	0	0	0	1	0	0	0	13002	478	17	2	2999	2	RAD54L2	3	51680404	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09	48568490	51680404	146342026	7	12726											
PLOD2	5352	genome.wustl.edu	37	chr3	145828222	145828222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctggaccaccagcaaAtatgacatcaaagctgttca	6	11	4	1			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr3:145828222A>G	ENST00000360060.3	-	4	529	c.352T>C	c.(352-354)Ttt>Ctt	p.F118L	PLOD2_ENST00000494950.1_Missense_Mutation_p.F63L|PLOD2_ENST00000282903.5_Missense_Mutation_p.F118L	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	118					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CCACCAGCAAATATGACATCA	0.363																																																	0								ENSG00000152952						85	86	86					3																	145828222		2202	4300	6502	PLOD2	SO:0001583	missense	0			-	HGNC	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.352T>C	3.37:g.145828222A>G	ENSP00000353170:p.Phe118Leu	Somatic	0	34	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP							pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.F118L	ENST00000360060.3	37	c.352	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240000	0.58995	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	N	0.20807	0.61	0.80722	D	1	D;B;B	0.59767	0.986;0.004;0.034	D;B;B	0.69654	0.965;0.009;0.109	T	0.08106	-1.0738	10	0.23302	T	0.38	-30.7197	15.0002	0.71466	1.0:0.0:0.0:0.0	.	63;118;118	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	L	118;118;63;90	ENSP00000282903:F118L;ENSP00000353170:F118L;ENSP00000420094:F63L;ENSP00000419963:F90L	ENSP00000282903:F118L	F	-	1	0	PLOD2	147310912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.870000	0.69620	1.940000	0.56252	0.477000	0.44152	TTT	-	NULL		0.363	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	protein_coding	OTTHUMT00000355185.1	A	NM_000935	-		145828222	-1	no_errors	ENST00000282903	ensembl	human	known	74_37	missense	SNP	1.000	G	G	145828222	A	G	145828222	3	3	182	1	0	0	0	0	1	0	0	0	12104	101	4	5	1992	5	PLOD2	3	145828222	Missense_Mutation	SNP	A	TCGA-MB-A5YA-01A-11D-A29N-09	94147818	145828222	52194208	8	12727											
ECE2	9718	genome.wustl.edu	37	chr3	184009904	184009904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaggggctggtgaccgacCcccacagccctgcccgcttc	12	18	0	1			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr3:184009904C>T	ENST00000402825.3	+	19	2530	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.P697S|ECE2_ENST00000404464.3_Missense_Mutation_p.P726S|ECE2_ENST00000357474.5_Missense_Mutation_p.P772S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	844	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGACCGACCCCCACAGCCC	0.667																																																	0								ENSG00000145194						38	40	40					3																	184009904		2203	4300	6503	ECE2	SO:0001583	missense	0			-	HGNC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2530C>T	3.37:g.184009904C>T	ENSP00000384223:p.Pro844Ser	Somatic	0	41	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	31	39.22	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.P844S	ENST00000402825.3	37	c.2530	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467362	0.63625	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.38	5.38	0.77491	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.065029	0.64402	D	0.000009	D	0.92153	0.7512	L	0.41906	1.305	0.80722	D	1	P;D;D;D	0.76494	0.477;0.995;0.995;0.999	B;P;P;P	0.62382	0.221;0.871;0.871;0.901	D	0.91662	0.5343	10	0.41790	T	0.15	-22.1825	16.6246	0.84952	0.0:1.0:0.0:0.0	.	726;772;697;844	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	S	844;697;726;772	ENSP00000384223:P844S;ENSP00000352052:P697S;ENSP00000385846:P726S;ENSP00000350066:P772S	ENSP00000350066:P772S	P	+	1	0	ECE2	185492598	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.890000	0.56220	2.515000	0.84797	0.491000	0.48974	CCC	-	pfam_Peptidase_M13_C		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	C	NM_014693	-		184009904	1	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	SNP	1.000	T	T	184009904	C	T	184009904	3	4	182	1	0	0	0	0	1	0	0	0	4892	623	22	2	3168	2	ECE2	3	184009904	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09	38181682	184009904	14012526	9	12728											
GRID2	2895	genome.wustl.edu	37	chr4	94006200	94006200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagctccattggctgcaCgtcagcaggatccctccagt	11	14	2	0	rs200490934		TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr4:94006200C>T	ENST00000282020.4	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	100					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTGGCTGCACGTCAGCAGGA	0.522																																																	0								ENSG00000152208						106	85	92					4																	94006200		2203	4300	6503	GRID2	SO:0001583	missense	0			-	HGNC	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.299C>T	4.37:g.94006200C>T	ENSP00000282020:p.Thr100Met	Somatic	0	33	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T100M	ENST00000282020.4	37	c.299	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319233	0.41096	.	.	ENSG00000152208	ENST00000282020	D	0.82984	-1.67	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.049364	0.85682	D	0.000000	T	0.64011	0.2560	N	0.01352	-0.895	0.80722	D	1	B;B	0.20368	0.008;0.044	B;B	0.14578	0.002;0.011	T	0.62163	-0.6912	10	0.42905	T	0.14	.	18.9145	0.92499	0.0:1.0:0.0:0.0	.	100;41	O43424;B4DYB9	GRID2_HUMAN;.	M	100	ENSP00000282020:T100M	ENSP00000282020:T100M	T	+	2	0	GRID2	94225223	0.987000	0.35691	0.963000	0.40424	0.980000	0.70556	2.566000	0.45948	2.553000	0.86117	0.655000	0.94253	ACG	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.522	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	protein_coding	OTTHUMT00000253588.2	C		-		94006200	1	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	SNP	0.994	T	T	94006200	C	T	94006200	3	4	182	1	0	0	0	0	1	0	0	0	6774	536	19	1	309	1	GRID2	4	94006200	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09		94006200	97148076	10	12729											
DCHS2	54798	genome.wustl.edu	37	chr4	155156309	155156309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccccttgatctccttcCccaaatgtttggctggcttc	6	16	1	1			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr4:155156309C>T	ENST00000357232.4	-	25	8129	c.8130G>A	c.(8128-8130)ggG>ggA	p.G2710G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2710					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)		GATCTCCTTCCCCAAATGTTT	0.532																																																	0								ENSG00000197410						96	80	86					4																	155156309		2203	4300	6503	DCHS2	SO:0001819	synonymous_variant	0			-	HGNC	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.8130G>A	4.37:g.155156309C>T		Somatic	0	39	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G2710	ENST00000357232.4	37	c.8130	CCDS3785.1	4																																																																																			-	NULL		0.532	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552	-		155156309	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	silent	SNP	0.041	T	T	155156309	C	T	155156309	2	4	182	1	0	0	0	0	0	0	0	1	4290	610	22	2		2	DCHS2	4	155156309	Silent	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09	61150109	155156309	35997967	11	12730											
TBC1D9B	23061	genome.wustl.edu	37	chr5	179290867	179290867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggtgtgtgtctccgcCtgctttggcttgggggtctc	15	11	2	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr5:179290867C>T	ENST00000356834.3	-	22	3371	c.3334G>A	c.(3334-3336)Ggc>Agc	p.G1112S	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.G271S|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.G253S|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G1095S|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1112						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTCTCCGCCTGCTTTGGCT	0.667																																																	0								ENSG00000197226						69	73	71					5																	179290867		2203	4300	6503	TBC1D9B	SO:0001583	missense	0			-	HGNC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3334G>A	5.37:g.179290867C>T	ENSP00000349291:p.Gly1112Ser	Somatic	0	30	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.G1112S	ENST00000356834.3	37	c.3334	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	C	1.834	-0.469172	0.04445	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.37	4.49	0.54785	.	0.498104	0.20305	N	0.094948	T	0.17450	0.0419	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.26081	0.0;0.001;0.0;0.003;0.141	B;B;B;B;B	0.22753	0.002;0.003;0.001;0.005;0.041	T	0.28713	-1.0035	10	0.06757	T	0.87	-17.6068	5.9657	0.19325	0.2196:0.6217:0.0:0.1587	.	1094;1095;1112;311;186	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	S	1112;1095;271;253;186	ENSP00000349291:G1112S;ENSP00000347375:G1095S;ENSP00000430293:G271S;ENSP00000401585:G253S	ENSP00000347375:G1095S	G	-	1	0	TBC1D9B	179223473	0.000000	0.05858	0.048000	0.18961	0.126000	0.20510	-0.048000	0.11944	1.227000	0.43598	0.561000	0.74099	GGC	-	NULL		0.667	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	protein_coding	OTTHUMT00000253501.3	C	NM_015043	-		179290867	-1	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	SNP	0.036	T	T	179290867	C	T	179290867	3	4	182	1	0	0	0	0	1	0	0	0	15635	681	24	2	422	2	TBC1D9B	5	179290867	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09		179290867	1624393	12	12731											
KCNK17	89822	genome.wustl.edu	37	chr6	39267321	39267321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggactctggctcccggtcaGgtccctgtctccagctttgg	13	14	3	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr6:39267321G>C	ENST00000373231.4	-	5	1113	c.881C>G	c.(880-882)cCt>cGt	p.P294R	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	294					potassium ion transport (GO:0006813)|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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CTCCCGGTCAGGTCCCTGTCT	0.577																																																	0								ENSG00000124780						93	80	84					6																	39267321		2203	4300	6503	KCNK17	SO:0001583	missense	0			-	HGNC	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.881C>G	6.37:g.39267321G>C	ENSP00000362328:p.Pro294Arg	Somatic	0	68	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	31	49.18	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.P294R	ENST00000373231.4	37	c.881	CCDS4842.1	6	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085446	0.20390	.	.	ENSG00000124780	ENST00000373231	T	0.15952	2.38	4.57	1.4	0.22301	.	.	.	.	.	T	0.02455	0.0075	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47341	-0.9125	9	0.22109	T	0.4	.	2.4856	0.04598	0.1138:0.1732:0.5206:0.1924	.	294	Q96T54	KCNKH_HUMAN	R	294	ENSP00000362328:P294R	ENSP00000362328:P294R	P	-	2	0	KCNK17	39375299	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.311000	0.19380	-0.047000	0.13423	0.655000	0.94253	CCT	-	pirsf_2pore_dom_K_chnl_TASK		0.577	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK17	protein_coding	OTTHUMT00000040453.2	G	NM_031460	-		39267321	-1	no_errors	ENST00000373231	ensembl	human	known	74_37	missense	SNP	0.000	C	C	39267321	G	C	39267321	3	2	182	1	0	0	0	0	1	0	0	0	8066	1000	35	4	121	4	KCNK17	6	39267321	Missense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09		39267321	131847746	13	12732											
ZCWPW1	55063	genome.wustl.edu	37	chr7	100014754	100014754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtctgattgggtagaTactacgggctgggcacaaga	13	8	1	3			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr7:100014754T>C	ENST00000398027.2	-	6	661	c.414A>G	c.(412-414)gtA>gtG	p.V138V	ZCWPW1_ENST00000324725.6_Silent_p.V17V|ZCWPW1_ENST00000360951.4_Silent_p.V138V|ZCWPW1_ENST00000490721.1_Silent_p.V17V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	138							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTGGGTAGATACTACGGGCT	0.423																																																	0								ENSG00000078487						136	128	130					7																	100014754		1895	4112	6007	ZCWPW1	SO:0001819	synonymous_variant	0			-	HGNC	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.414A>G	7.37:g.100014754T>C		Somatic	0	38	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP							pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.V138	ENST00000398027.2	37	c.414	CCDS43623.1	7																																																																																			-	NULL		0.423	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	protein_coding	OTTHUMT00000356083.1	T	NM_017984	-		100014754	-1	no_errors	ENST00000398027	ensembl	human	known	74_37	silent	SNP	0.000	C	C	100014754	T	C	100014754	2	2	182	1	0	0	0	0	0	0	0	1	17604	1393	49	5		5	ZCWPW1	7	100014754	Silent	SNP	T	TCGA-MB-A5YA-01A-11D-A29N-09		100014754	59123909	14	12733											
TMX2	51075	genome.wustl.edu	37	chr11	57505881	57505881	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgagtatatcaagtaCttcaatgataaaaccattga	7	8	2	3			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr11:57505881C>G	ENST00000278422.4	+	4	432	c.420C>G	c.(418-420)taC>taG	p.Y140*	TMX2_ENST00000378312.4_Nonsense_Mutation_p.Y102*|C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	140	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATATCAAGTACTTCAATGATA	0.423																																																	0								ENSG00000213593						246	228	234					11																	57505881		2201	4296	6497	TMX2	SO:0001587	stop_gained	0			-	HGNC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.420C>G	11.37:g.57505881C>G	ENSP00000278422:p.Tyr140*	Somatic	0	66	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	49	38.75	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Nonsense_Mutation	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.Y140*	ENST00000278422.4	37	c.420	CCDS7967.1	11	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227373	0.39399	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	.	.	.	6.17	5.26	0.73747	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2763	8.9949	0.36045	0.0:0.7972:0.0:0.2028	.	.	.	.	X	102;140	.	ENSP00000278422:Y140X	Y	+	3	2	TMX2	57262457	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.563000	0.23547	2.941000	0.99782	0.655000	0.94253	TAC	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.423	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX2	protein_coding	OTTHUMT00000393708.1	C	NM_015959	-		57505881	1	no_errors	ENST00000278422	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	57505881	C	G	57505881	4	3	182	1	0	0	0	0	0	1	0	0	16274	576	20	4	434	4	TMX2	11	57505881	Nonsense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09		57505881	77500635	15	12734											
SHANK2	22941	genome.wustl.edu	37	chr11	70332818	70332818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccggggccggctgtgcCgctgctcgcggagggcactg	17	14	0	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr11:70332818C>T	ENST00000423696.2	-	15	2479	c.2443G>A	c.(2443-2445)Ggc>Agc	p.G815S	SHANK2_ENST00000449833.2_Missense_Mutation_p.G599S|SHANK2_ENST00000409161.1_Missense_Mutation_p.G598S|SHANK2_ENST00000338508.4_Missense_Mutation_p.G1195S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	815					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGGCTGTGCCGCTGCTCGCG	0.701																																																	0								ENSG00000162105						21	27	25					11																	70332818		2192	4292	6484	SHANK2	SO:0001583	missense	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2443G>A	11.37:g.70332818C>T	ENSP00000394536:p.Gly815Ser	Somatic	0	47	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.G1195S	ENST00000423696.2	37	c.3583		11	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.324453	0.00229	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	3.79	1.2	0.21068	.	6.068490	0.01202	N	0.007619	T	0.09379	0.0231	N	0.00128	-2.045	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.0;0.001;0.003	T	0.50242	-0.8851	10	0.02654	T	1	.	3.9314	0.09286	0.0:0.2276:0.182:0.5904	.	815;1194;599	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	599;598;473;1195;815;833;818	ENSP00000399423:G599S;ENSP00000386491:G598S;ENSP00000402944:G473S;ENSP00000345193:G1195S;ENSP00000394536:G815S;ENSP00000294018:G818S	ENSP00000294018:G818S	G	-	1	0	SHANK2	70010466	0.000000	0.05858	0.011000	0.14972	0.037000	0.13140	0.455000	0.21843	0.372000	0.24591	0.561000	0.74099	GGC	-	NULL		0.701	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		C	NM_012309	-		70332818	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	SNP	0.002	T	T	70332818	C	T	70332818	3	4	182	1	0	0	0	0	1	0	0	0	14273	652	23	1	1977	1	SHANK2	11	70332818	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09	12826937	70332818	64673698	16	12735											
PRB3	5544	genome.wustl.edu	37	chr12	11421026	11421085	+	Splice_Site	DEL	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	-													tccttctggctttcctggagGaggtggggtacgttggggct					rs533793961|rs71455367|rs200479477|rs368068621|rs71455368|rs199739275|rs560467592|rs529192462|rs71455370	byFrequency	TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr12:11421026_11421085delGAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	ENST00000279573.7	-	3	236_292	c.101_157delCAGGAAAGCCAGAAGGACGACGCCCACAAGGAGGAAACCAGCCCCAACGTACCCCACCTC	c.(100-159)gcaggaaagccagaaggacgacgcccacaaggaggaaaccagccccaacgtaccccacct>gct	p.GKPEGRRPQGGNQPQRTPP35del	PRB3_ENST00000538488.1_Splice_Site_p.GKPEGRRPQGGNQPQRTPP35del|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Splice_Site_p.GKPEGRRPQGGNQPQRTPP35del			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	35					defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTGGAGGAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGG	0.55																																																	0								ENSG00000197870																																			PRB3	SO:0001630	splice_region_variant	0				HGNC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.101-1CAGGAAAGCCAGAAGGACGACGCCCACAAGGAGGAAACCAGCCCCAACGTACCCCACCTC>-	12.37:g.11421026_11421085delGAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG		Somatic					0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Splice_Site	DEL							-	e3-1	ENST00000279573.7	37	c.101-3_101-1		12																																																																																			-	-		0.55	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	protein_coding	OTTHUMT00000402119.5	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	NM_006249		In_Frame_Del	11421085	-1	no_errors	ENST00000381842	ensembl	human	known	74_37	splice_site_del	DEL	0.002:0.002:0.003:0.006:0.007:0.007:0.005:0.005:0.004:0.001:0.001:0.001:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.002:0.003:0.002:0.001:0.001:0.002:0.011:0.015:0.020:0.021:0.019:0.015:0.008:0.005:0.005:0.000:0.000:0.002:0.005:0.010:0.051	-	-	11421085	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	-	11421026	8	5	182	1	0	1	0	1	0	0	1	0	12449	1174	41	0	780	0	PRB3	12	11421026	Splice_Site	DEL	GAGGTGGGGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTG	TCGA-MB-A5YA-01A-11D-A29N-09		11421026	122430869	17	12736											
GABRA5	2558	genome.wustl.edu	37	chr15	27193366	27193366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggtgataaaaggagccGcctctccaaaataaccggcc	10	13	1	1			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr15:27193366G>A	ENST00000335625.5	+	11	2263	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	GABRA5_ENST00000355395.5_Missense_Mutation_p.A459T|GABRA5_ENST00000400081.3_Missense_Mutation_p.A459T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	459					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A459T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)|Zopiclone(DB01198)	AAAAGGAGCCGCCTCTCCAAA	0.483																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000186297						15	16	16					15																	27193366		1775	3933	5708	GABRA5	SO:0001583	missense	0			-	HGNC		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1375G>A	15.37:g.27193366G>A	ENSP00000335592:p.Ala459Thr	Somatic	0	27	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A459T	ENST00000335625.5	37	c.1375	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	G	1.622	-0.521227	0.04171	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	T;T;T	0.70869	-0.52;-0.52;-0.52	5.06	-1.98	0.07480	.	0.625964	0.15791	N	0.244425	T	0.39809	0.1092	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36768	-0.9734	10	0.02654	T	1	.	10.8797	0.46931	0.8007:0.0:0.1993:0.0	.	459	P31644	GBRA5_HUMAN	T	459	ENSP00000335592:A459T;ENSP00000347557:A459T;ENSP00000382953:A459T	ENSP00000335592:A459T	A	+	1	0	GABRA5	24776112	0.030000	0.19436	0.065000	0.19835	0.718000	0.41266	0.749000	0.26320	-0.158000	0.11040	0.655000	0.94253	GCC	-	prints_GABBAa5_rcpt		0.483	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	protein_coding	OTTHUMT00000415234.1	G		-		27193366	1	no_errors	ENST00000335625	ensembl	human	known	74_37	missense	SNP	0.001	A	A	27193366	G	A	27193366	3	1	182	1	0	0	0	0	1	0	0	0	6166	1087	38	1	1409	1	GABRA5	15	27193366	Missense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09		27193366	75338026	18	12737											
DMXL2	23312	genome.wustl.edu	37	chr15	51828631	51828631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttattgtctgagtcccaCtgacaatctaattcaggagt	7	8	3	2			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr15:51828631C>T	ENST00000251076.5	-	12	2333	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	DMXL2_ENST00000449909.3_Silent_p.Q682Q|DMXL2_ENST00000543779.2_Silent_p.Q682Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	682						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGAGTCCCACTGACAATCTA	0.373																																																	0								ENSG00000104093						104	105	105					15																	51828631		2195	4293	6488	DMXL2	SO:0001819	synonymous_variant	0			-	HGNC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2046G>A	15.37:g.51828631C>T		Somatic	0	29	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q682	ENST00000251076.5	37	c.2046	CCDS10141.1	15																																																																																			-	NULL		0.373	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	C	NM_015263	rs150462519		51828631	-1	no_errors	ENST00000543779	ensembl	human	known	74_37	silent	SNP	0.001	T	T	51828631	C	T	51828631	2	4	182	1	0	0	0	0	0	0	0	1	4597	564	20	2		2	DMXL2	15	51828631	Silent	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09	24635265	51828631	50702761	19	12738											
RICH2	9912	genome.wustl.edu	37	chr17	12883386	12883386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtttcagcacaacaaaaaGcaaggaactttctccaggct	7	11	2	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr17:12883386G>T	ENST00000379672.5	+	19	2075	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S586I|ARHGAP44_ENST00000578087.1_3'UTR|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S592I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	592					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACAACAAAAAGCAAGGAACTT	0.557																																																	0								ENSG00000006740						33	36	35					17																	12883386		1930	4156	6086	ARHGAP44	SO:0001583	missense	0			-	HGNC		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1775G>T	17.37:g.12883386G>T	ENSP00000368994:p.Ser592Ile	Somatic	0	28	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP							pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.S592I	ENST00000379672.5	37	c.1775	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180600	0.38511	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T	0.18810	2.19;2.21	5.08	4.1	0.47936	.	0.311477	0.36555	N	0.002536	T	0.18002	0.0432	N	0.14661	0.345	0.43191	D	0.995025	P;P;P;P	0.48998	0.838;0.918;0.573;0.838	B;P;B;B	0.49140	0.276;0.601;0.106;0.276	T	0.03240	-1.1057	10	0.52906	T	0.07	.	11.6105	0.51057	0.0875:0.0:0.9125:0.0	.	586;50;248;592	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	I	592;248;586;50	ENSP00000368994:S592I;ENSP00000342566:S586I	ENSP00000262444:S50I	S	+	2	0	ARHGAP44	12824111	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.629000	0.37071	1.350000	0.45770	0.555000	0.69702	AGC	-	NULL		0.557	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	protein_coding	OTTHUMT00000441566.1	G	NM_014859	-		12883386	1	no_errors	ENST00000379672	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12883386	G	T	12883386	3	4	182	1	0	0	0	0	1	0	0	0	13365	971	34	3	1849	3	RICH2	17	12883386	Missense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09		12883386	68311824	20	12739											
TMEM132E	124842	genome.wustl.edu	37	chr17	32955593	32955593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcccagggtgaaggccaAgaagggtgtgacccttttag	14	8	0	3			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr17:32955593A>G	ENST00000321639.5	+	4	1068	c.740A>G	c.(739-741)aAg>aGg	p.K247R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	247						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGAAGGCCAAGAAGGGTGTG	0.587																																																	0								ENSG00000181291						61	53	56					17																	32955593		2203	4300	6503	TMEM132E	SO:0001583	missense	0			-	HGNC	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.740A>G	17.37:g.32955593A>G	ENSP00000316532:p.Lys247Arg	Somatic	0	55	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	Q8WUF4|Q8WVA5	Missense_Mutation	SNP							NULL	p.K247R	ENST00000321639.5	37	c.740	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	a	20.5	4.008385	0.75046	.	.	ENSG00000181291	ENST00000321639	T	0.19669	2.13	4.86	4.86	0.63082	.	0.101246	0.64402	D	0.000004	T	0.44074	0.1276	M	0.67625	2.065	0.54753	D	0.999987	D	0.67145	0.996	D	0.76071	0.987	T	0.39722	-0.9600	10	0.59425	D	0.04	-37.2233	13.9455	0.64082	1.0:0.0:0.0:0.0	.	247	Q6IEE7	T132E_HUMAN	R	247	ENSP00000316532:K247R	ENSP00000316532:K247R	K	+	2	0	TMEM132E	29979706	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.383000	0.52471	1.951000	0.56629	0.241000	0.17934	AAG	-	NULL		0.587	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	protein_coding	OTTHUMT00000256440.2	A	NM_207313	-		32955593	1	no_errors	ENST00000321639	ensembl	human	known	74_37	missense	SNP	1.000	G	G	32955593	A	G	32955593	3	3	182	1	0	0	0	0	1	0	0	0	16055	72	3	5	754	5	TMEM132E	17	32955593	Missense_Mutation	SNP	A	TCGA-MB-A5YA-01A-11D-A29N-09	20072207	32955593	48239617	21	12740											
WDR18	57418	genome.wustl.edu	37	chr19	985972	985972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaagcatccacctgtgGgaggtaagaggagcaaagcg	15	8	0	2			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr19:985972G>T	ENST00000251289.5	+	2	341	c.318G>T	c.(316-318)tgG>tgT	p.W106C	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Missense_Mutation_p.W106C	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	106					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		TCCACCTGTGGGAGGTAAGAG	0.592																																																	0								ENSG00000065268						89	73	79					19																	985972		2203	4300	6503	WDR18	SO:0001583	missense	0			-	HGNC		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.318G>T	19.37:g.985972G>T	ENSP00000251289:p.Trp106Cys	Somatic	0	30	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	O60390|Q9BWR2	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W106C	ENST00000251289.5	37	c.318	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683663	0.68157	.	.	ENSG00000065268	ENST00000251289	T	0.35421	1.31	3.77	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070423	0.64402	D	0.000007	T	0.61185	0.2327	M	0.86953	2.85	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	T	0.71715	-0.4509	10	0.87932	D	0	.	14.8369	0.70190	0.0:0.0:1.0:0.0	.	106	Q9BV38	WDR18_HUMAN	C	106	ENSP00000251289:W106C	ENSP00000251289:W106C	W	+	3	0	WDR18	936972	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.676000	0.91199	1.956000	0.56807	0.555000	0.69702	TGG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.592	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	protein_coding	OTTHUMT00000458225.2	G		-		985972	1	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	SNP	1.000	T	T	985972	G	T	985972	3	4	182	1	0	0	0	0	1	0	0	0	17285	1241	43	3	324	3	WDR18	19	985972	Missense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09		985972	58143011	22	12741											
ARHGAP33	115703	genome.wustl.edu	37	chr19	36275201	36275201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgacaccttcacctccGccggcctcgaccctgcaggt	9	19	2	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr19:36275201G>A	ENST00000007510.4	+	16	1693	c.1549G>A	c.(1549-1551)Gcc>Acc	p.A517T	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A381T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A517T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	517					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTTCACCTCCGCCGGCCTCGA	0.682																																																	0								ENSG00000004777						224	181	196					19																	36275201		2203	4300	6503	ARHGAP33	SO:0001583	missense	0			-	HGNC	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1549G>A	19.37:g.36275201G>A	ENSP00000007510:p.Ala517Thr	Somatic	0	57	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	53	36.14	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A517T	ENST00000007510.4	37	c.1549		19	.	.	.	.	.	.	.	.	.	.	g	12.47	1.946537	0.34377	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11712	3.11;2.75;3.14	4.9	4.9	0.64082	.	0.218710	0.31279	N	0.007933	T	0.10465	0.0256	N	0.24115	0.695	0.33717	D	0.616532	B;B;D	0.56521	0.165;0.255;0.976	B;B;P	0.48840	0.056;0.119;0.592	T	0.16689	-1.0394	10	0.33940	T	0.23	.	10.5291	0.44967	0.0917:0.0:0.9083:0.0	.	517;381;517	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	517;517;381	ENSP00000007510:A517T;ENSP00000320038:A517T;ENSP00000368227:A381T	ENSP00000007510:A517T	A	+	1	0	ARHGAP33	40967041	0.994000	0.37717	1.000000	0.80357	0.395000	0.30598	2.900000	0.48687	2.262000	0.75019	0.457000	0.33378	GCC	-	NULL		0.682	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	protein_coding		G	NM_052948	-		36275201	1	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36275201	G	A	36275201	3	1	182	1	0	0	0	0	1	0	0	0	882	1087	38	1	1611	1	ARHGAP33	19	36275201	Missense_Mutation	SNP	G	TCGA-MB-A5YA-01A-11D-A29N-09	35289229	36275201	22853782	23	12742											
PABPC1L	80336	genome.wustl.edu	37	chr20	43547557	43547557	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtccacagctttgtgggtCacttcaagtctcgacgggag	12	10	3	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr20:43547557C>T	ENST00000217073.2	+	4	514	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	PABPC1L_ENST00000537323.1_Missense_Mutation_p.H172Y|PABPC1L_ENST00000255136.3_Missense_Mutation_p.H172Y|PABPC1L_ENST00000217074.4_Missense_Mutation_p.H172Y			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTTTGTGGGTCACTTCAAGTC	0.612																																																	0								ENSG00000101104						84	82	83					20																	43547557		1568	3582	5150	PABPC1L	SO:0001583	missense	0			-	HGNC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.514C>T	20.37:g.43547557C>T	ENSP00000217073:p.His172Tyr	Somatic	0	19	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	Q4VY17	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.H172Y	ENST00000217073.2	37	c.514	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636667	0.29068	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.05	3.04	0.35103	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.205139	0.51477	D	0.000098	T	0.67202	0.2868	N	0.04320	-0.23	0.53688	D	0.999971	B	0.21905	0.062	B	0.19946	0.027	T	0.58031	-0.7708	10	0.30078	T	0.28	.	10.2006	0.43082	0.2748:0.5924:0.1327:0.0	.	172	Q4VXU2	PAP1L_HUMAN	Y	172	ENSP00000217074:H172Y;ENSP00000255136:H172Y;ENSP00000445661:H172Y;ENSP00000217073:H172Y	ENSP00000217073:H172Y	H	+	1	0	PABPC1L	42980971	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	3.046000	0.49846	0.661000	0.30985	-0.300000	0.09419	CAC	-	pfscan_RRM_dom,tigrfam_PABP_1234		0.612	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	protein_coding	OTTHUMT00000127816.2	C		-		43547557	1	no_errors	ENST00000217073	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43547557	C	T	43547557	3	4	182	1	0	0	0	0	1	0	0	0	11366	826	29	2	528	2	PABPC1L	20	43547557	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09		43547557	19477963	24	12743											
MX1	4599	genome.wustl.edu	37	chr21	42804053	42804053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgctgcatcccaccCtctattactgaatggagatg	8	13	1	2			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr21:42804053C>T	ENST00000398600.2	+	7	1081	c.56C>T	c.(55-57)cCt>cTt	p.P19L	MX1_ENST00000455164.2_Missense_Mutation_p.P19L|MX1_ENST00000398598.3_Missense_Mutation_p.P19L|MX1_ENST00000288383.6_Missense_Mutation_p.P19L	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	19					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCATCCCACCCTCTATTACTG	0.458																																																	0								ENSG00000157601						102	100	101					21																	42804053		2203	4300	6503	MX1	SO:0001583	missense	0			-	HGNC		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.56C>T	21.37:g.42804053C>T	ENSP00000381601:p.Pro19Leu	Somatic	0	41	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	64	30.43	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.P19L	ENST00000398600.2	37	c.56	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059864	0.19987	.	.	ENSG00000157601	ENST00000398600;ENST00000413778;ENST00000419044;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963;ENST00000441677;ENST00000427464;ENST00000288383	D;D;D;D;D;D	0.92752	-2.55;-2.55;-2.55;-3.1;-3.1;-2.48	3.19	-5.7	0.02421	.	7739.210000	0.00166	N	0.000000	T	0.80613	0.4656	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70350	-0.4896	10	0.39692	T	0.17	8.165	4.5711	0.12210	0.2044:0.2738:0.0:0.5218	.	19	P20591	MX1_HUMAN	L	19	ENSP00000381601:P19L;ENSP00000381599:P19L;ENSP00000410523:P19L;ENSP00000400923:P19L;ENSP00000402215:P19L;ENSP00000288383:P19L	ENSP00000288383:P19L	P	+	2	0	MX1	41725923	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.105000	0.03323	-1.056000	0.03205	-1.394000	0.01149	CCT	-	NULL		0.458	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	protein_coding	OTTHUMT00000195161.2	C		-		42804053	1	no_errors	ENST00000398598	ensembl	human	known	74_37	missense	SNP	0.000	T	T	42804053	C	T	42804053	3	4	182	1	0	0	0	0	1	0	0	0	9999	681	24	2	58	2	MX1	21	42804053	Missense_Mutation	SNP	C	TCGA-MB-A5YA-01A-11D-A29N-09		42804053	5325842	25	12744											
C21orf29	54084	genome.wustl.edu	37	chr21	45945565	45945565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttggccaccgccaggaagTgctccccatccacctcgaag	11	16	0	0			TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chr21:45945565T>A	ENST00000323084.4	-	8	1372	c.1307A>T	c.(1306-1308)cAc>cTc	p.H436L	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.H368L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	436					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CGCCAGGAAGTGCTCCCCATC	0.602																																																	0								ENSG00000175894						120	119	120					21																	45945565		2203	4300	6503	TSPEAR	SO:0001583	missense	0			-	HGNC	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1307A>T	21.37:g.45945565T>A	ENSP00000321987:p.His436Leu	Somatic	0	43	0		0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62		Missense_Mutation	SNP							pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.H436L	ENST00000323084.4	37	c.1307	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891516	0.33442	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.78816	-1.21;-1.21	4.32	1.82	0.25136	.	0.457948	0.24530	N	0.037736	T	0.66973	0.2844	L	0.55990	1.75	0.80722	D	1	B	0.15719	0.014	B	0.20384	0.029	T	0.59101	-0.7517	10	0.21540	T	0.41	-6.7823	6.2245	0.20700	0.1243:0.0:0.2456:0.6301	.	436	Q8WU66	TSEAR_HUMAN	L	436;289;368;437	ENSP00000321987:H436L;ENSP00000381012:H368L	ENSP00000321987:H436L	H	-	2	0	TSPEAR	44769993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.581000	0.46077	1.731000	0.51592	0.402000	0.26972	CAC	-	pfam_EPTP,pfscan_EAR		0.602	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	protein_coding	OTTHUMT00000098761.1	T	NM_144991	-		45945565	-1	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45945565	T	A	45945565	3	1	182	1	0	0	0	0	1	0	0	0	2126	1696	59	5	722	5	C21orf29	21	45945565	Missense_Mutation	SNP	T	TCGA-MB-A5YA-01A-11D-A29N-09	3141512	45945565	2184330	26	12745											
SLC6A8	6535	genome.wustl.edu	37	chrX	152960301	152960302	+	In_Frame_Ins	INS	-	-	CCTCCTGGGCTGCCT													atgctgtgcgtgccgctgcaINScctcctgggctgcctcctca							TCGA-MB-A5YA-01A-11D-A29N-09	TCGA-MB-A5YA-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fdc2ffd-b882-4425-bfc3-43670326b763	d78c8041-1687-4dfc-b60b-b976c8fb311f	g.chrX:152960301_152960302insCCTCCTGGGCTGCCT	ENST00000253122.5	+	12	2200_2201	c.1724_1725insCCTCCTGGGCTGCCT	c.(1723-1728)cacctc>caCCTCCTGGGCTGCCTcctc	p.581_582insLGCLL	SLC6A8_ENST00000430077.2_In_Frame_Ins_p.466_467insLGCLL|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	581					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GTGCCGCTGCACCTCCTGGGCT	0.668																																																	0								ENSG00000130821																																			SLC6A8	SO:0001652	inframe_insertion	0				HGNC		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1725_1739dupCCTCCTGGGCTGCCT	X.37:g.152960301_152960302insCCTCCTGGGCTGCCT	ENSP00000253122:p.Leu577_Leu581dup	Somatic					0.613391423130819				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	In_Frame_Ins	INS							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.579in_frame_insCLLLG	ENST00000253122.5	37	c.1724_1725	CCDS14726.1	X																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.668	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	protein_coding	OTTHUMT00000061003.1	-				152960302	1	no_errors	ENST00000253122	ensembl	human	known	74_37	in_frame_ins	INS	0.372:0.372	CCTCCTGGGCTGCCT	CCTCCTGGGCTGCCT	152960302	-	CCTCCTGGGCTGCCT	152960301	7	5	182	1	0	1	1	0	0	0	0	0	14698	159	6	0	1770	0	SLC6A8	23	152960301	In_Frame_Ins	INS	-	TCGA-MB-A5YA-01A-11D-A29N-09		152960301	2310259	27	12746											
C1orf175	374977	genome.wustl.edu	37	chr1	55118966	55118966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcacaggggcgcctctgtCcagcctcaaaccccattctg	8	17	4	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:55118966C>T	ENST00000421030.2	+	3	652	c.367C>T	c.(367-369)Cca>Tca	p.P123S	MROH7_ENST00000395690.2_Missense_Mutation_p.P123S|MROH7_ENST00000545244.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.P123S|MROH7_ENST00000339553.5_Missense_Mutation_p.P123S|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	123						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCGCCTCTGTCCAGCCTCAAA	0.572																																																	0								ENSG00000271723						109	106	107					1																	55118966		1954	4165	6119	MROH7-TTC4	SO:0001583	missense	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.367C>T	1.37:g.55118966C>T	ENSP00000396622:p.Pro123Ser	Somatic	0	44	0		0.542364332461213	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P123S	ENST00000421030.2	37	c.367	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280619	0.40294	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.03301	4.49;3.98;3.99	3.58	2.63	0.31362	.	0.510296	0.14798	N	0.297826	T	0.08179	0.0204	L	0.32530	0.975	0.40066	D	0.975955	D;D;D	0.69078	0.959;0.959;0.997	P;B;P	0.61874	0.654;0.362;0.895	T	0.30621	-0.9972	10	0.72032	D	0.01	.	8.8481	0.35184	0.0:0.7694:0.2306:0.0	.	123;123;123	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	S	123	ENSP00000396622:P123S;ENSP00000343211:P123S;ENSP00000379044:P123S	ENSP00000343211:P123S	P	+	1	0	HEATR8	54891554	0.090000	0.21635	0.428000	0.26697	0.225000	0.24961	0.984000	0.29565	1.041000	0.40125	0.561000	0.74099	CCA	-	NULL		0.572	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	C	NM_198547	-		55118966	1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	SNP	0.459	T	T	55118966	C	T	55118966	3	4	183	1	0	0	0	0	1	0	0	0	2018	855	30	2	369	2	C1orf175	1	55118966	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		55118966	194131655	1	12747											
C1orf52	148423	genome.wustl.edu	37	chr1	85725291	85725291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgccgcaaaatagctcAgagggtccttctcctccgct	9	14	2	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:85725291A>C	ENST00000471115.1	-	1	34	c.26T>G	c.(25-27)cTg>cGg	p.L9R	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.L9R	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	9							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		AAAATAGCTCAGAGGGTCCTT	0.662											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162642						16	14	15					1																	85725291		2202	4298	6500	C1orf52	SO:0001583	missense	0			-	HGNC	BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.26T>G	1.37:g.85725291A>C	ENSP00000419417:p.Leu9Arg	Somatic	0	66	0	1239	0.542364332461213	60	16.67	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP							NULL	p.L9R	ENST00000471115.1	37	c.26	CCDS703.1	1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209341	0.58343	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.12	5.12	0.69794	.	0.073852	0.56097	D	0.000036	T	0.62925	0.2468	L	0.45581	1.43	0.53688	D	0.999977	D;D	0.76494	0.998;0.999	D;D	0.76071	0.981;0.987	T	0.65026	-0.6268	9	0.51188	T	0.08	-2.0581	15.3651	0.74516	1.0:0.0:0.0:0.0	.	9;9	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	R	9	.	ENSP00000345092:L9R	L	-	2	0	C1orf52	85497879	1.000000	0.71417	0.932000	0.37286	0.288000	0.27193	4.814000	0.62627	2.270000	0.75569	0.519000	0.50382	CTG	-	NULL		0.662	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf52	protein_coding	OTTHUMT00000027616.2	A	NM_198077	-		85725291	-1	no_errors	ENST00000471115	ensembl	human	known	74_37	missense	SNP	0.996	C	C	85725291	A	C	85725291	3	2	183	1	0	0	0	0	1	0	0	0	2046	188	7	5	534	5	C1orf52	1	85725291	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	30606325	85725291	163525330	2	12748											
ADAM30	11085	genome.wustl.edu	37	chr1	120438051	120438051	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgaccatgcaagagcAtcattatattttctttgaag	6	9	2	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:120438051A>T	ENST00000369400.1	-	1	1067	c.909T>A	c.(907-909)gaT>gaA	p.D303E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATGCAAGAGCATCATTATATT	0.363																																																	0								ENSG00000134249						57	59	58					1																	120438051		2203	4300	6503	ADAM30	SO:0001583	missense	0			-	HGNC	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.909T>A	1.37:g.120438051A>T	ENSP00000358407:p.Asp303Glu	Somatic	0	29	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D303E	ENST00000369400.1	37	c.909	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.820747	0.32145	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10005	2.92	4.88	-0.242	0.13039	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.310755	0.22744	U	0.056169	T	0.02571	0.0078	M	0.72118	2.19	0.09310	N	1	B	0.23249	0.082	B	0.29663	0.105	T	0.48536	-0.9027	10	0.06625	T	0.88	.	3.309	0.07010	0.5457:0.0:0.285:0.1693	.	303	Q9UKF2	ADA30_HUMAN	E	303	ENSP00000358407:D303E	ENSP00000358407:D303E	D	-	3	2	ADAM30	120239574	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.870000	0.04228	-0.206000	0.10203	0.460000	0.39030	GAT	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.363	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	protein_coding	OTTHUMT00000033678.1	A	NM_021794	-		120438051	-1	no_errors	ENST00000369400	ensembl	human	known	74_37	missense	SNP	0.004	T	T	120438051	A	T	120438051	3	4	183	1	0	0	0	0	1	0	0	0	248	214	8	5	1467	5	ADAM30	1	120438051	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	34712760	120438051	128812570	3	12749											
CEP350	9857	genome.wustl.edu	37	chr1	179966060	179966060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgttacgactaactgaCtcttctccatcctctactag	5	13	3	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:179966060C>T	ENST00000367607.3	+	6	1186	c.768C>T	c.(766-768)gaC>gaT	p.D256D		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	256					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTAACTGACTCTTCTCCAT	0.373																																																	0								ENSG00000135837						127	127	127					1																	179966060		2203	4300	6503	CEP350	SO:0001819	synonymous_variant	0			-	HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.768C>T	1.37:g.179966060C>T		Somatic	0	39	0		0.542364332461213	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	O75068|Q8TDK3|Q8WY20	Silent	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D256	ENST00000367607.3	37	c.768	CCDS1336.1	1																																																																																			-	NULL		0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	C	NM_014810	-		179966060	1	no_errors	ENST00000367607	ensembl	human	known	74_37	silent	SNP	0.938	T	T	179966060	C	T	179966060	2	4	183	1	0	0	0	0	0	0	0	1	3256	564	20	2		2	CEP350	1	179966060	Silent	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	59528009	179966060	69284561	4	12750											
EPHX1	2052	genome.wustl.edu	37	chr1	226026987	226026987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcttccaggaattctAcattcaaggaggggactggg	15	8	2	0	rs368539734		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:226026987A>G	ENST00000366837.4	+	5	858	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.Y221C	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	221					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CAGGAATTCTACATTCAAGGA	0.572																																																	0								ENSG00000143819	A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	72	80	77		662,662	4.9	0.8	1		77	0,8600		0,0,4300	no	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	221/456,221/456	226026987	1,13005	2203	4300	6503	EPHX1	SO:0001583	missense	0			-	HGNC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.662A>G	1.37:g.226026987A>G	ENSP00000355802:p.Tyr221Cys	Somatic	0	69	0		0.542364332461213	132	34	68	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP							pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.Y221C	ENST00000366837.4	37	c.662	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619127	0.66787	2.27E-4	0.0	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61742	0.08;0.08	4.87	4.87	0.63330	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83247	-0.0055	10	0.87932	D	0	-4.2389	14.7656	0.69637	1.0:0.0:0.0:0.0	.	221	P07099	HYEP_HUMAN	C	221	ENSP00000272167:Y221C;ENSP00000355802:Y221C	ENSP00000272167:Y221C	Y	+	2	0	EPHX1	224093610	1.000000	0.71417	0.839000	0.33178	0.816000	0.46133	5.706000	0.68362	1.955000	0.56771	0.482000	0.46254	TAC	-	pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	protein_coding	OTTHUMT00000092064.1	A	NM_000120	-		226026987	1	no_errors	ENST00000272167	ensembl	human	known	74_37	missense	SNP	0.992	G	G	226026987	A	G	226026987	3	3	183	1	0	0	0	0	1	0	0	0	5181	391	14	5	676	5	EPHX1	1	226026987	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	46060927	226026987	23223634	5	12751											
OBSCN	84033	genome.wustl.edu	37	chr1	228401199	228401199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggtgcgggagaaggagtCggccacgttcctatgtgagg	19	7	0	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:228401199C>T	ENST00000422127.1	+	3	1090	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	C1orf145_ENST00000295012.5_Missense_Mutation_p.D55N|OBSCN_ENST00000570156.2_Missense_Mutation_p.S349L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S349L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	349	Ig-like 4.				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)				GAGAAGGAGTCGGCCACGTTC	0.652																																																	0								ENSG00000154358						25	29	28					1																	228401199		2112	4206	6318	OBSCN	SO:0001583	missense	0			-	HGNC	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.1046C>T	1.37:g.228401199C>T	ENSP00000409493:p.Ser349Leu	Somatic	0	70	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S349L	ENST00000422127.1	37	c.1046	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.334458|4.334458	0.81801|0.81801	.|.	.|.	ENSG00000162913|ENSG00000154358	ENST00000295012|ENST00000284548;ENST00000422127	.|T;T	.|0.70164	.|-0.46;-0.46	5.47|5.47	4.55|4.55	0.56014|0.56014	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.490293|.	0.15258|.	N|.	0.271964|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37573	.|0.6;0.545	.|B;B	.|0.30495	.|0.116;0.071	T|T	0.55095|0.55095	-0.8194|-0.8194	7|8	0.87932|.	D|.	0|.	-15.0299|-15.0299	10.6159|10.6159	0.45449|0.45449	0.0:0.7937:0.1343:0.072|0.0:0.7937:0.1343:0.072	.|.	.|349;349	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	N|L	55|349	.|ENSP00000284548:S349L;ENSP00000409493:S349L	ENSP00000295012:D55N|.	D|S	-|+	1|2	0|0	C1orf145|OBSCN	226467822|226467822	0.976000|0.976000	0.34144|0.34144	0.932000|0.932000	0.37286|0.37286	0.976000|0.976000	0.68499|0.68499	3.237000|3.237000	0.51344|0.51344	1.282000|1.282000	0.44496|0.44496	0.655000|0.655000	0.94253|0.94253	GAC|TCG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228401199	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.992	T	T	228401199	C	T	228401199	3	4	183	1	0	0	0	0	1	0	0	0	10814	893	31	1	1052	1	OBSCN	1	228401199	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	2374212	228401199	20849422	6	12752											
OR2L3	391192	genome.wustl.edu	37	chr1	248224054	248224054	+	Frame_Shift_Del	DEL	T	T	-													cccaccatcaagaattggccTtttcctcttcatcctcattg							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:248224054delT	ENST00000359959.3	+	1	71	c.71delT	c.(70-72)cttfs	p.L24fs	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			AGAATTGGCCTTTTCCTCTTC	0.408																																																	0								ENSG00000198128						242	240	240					1																	248224054		2203	4300	6503	OR2L3	SO:0001589	frameshift_variant	0				HGNC	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.71delT	1.37:g.248224054delT	ENSP00000353044:p.Leu24fs	Somatic	0	101	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B9EH44	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F25fs	ENST00000359959.3	37	c.71	CCDS31104.1	1																																																																																			-	prints_GPCR_Rhodpsn		0.408	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	protein_coding	OTTHUMT00000096852.1	T	NM_001004687			248224054	1	no_errors	ENST00000359959	ensembl	human	known	74_37	frame_shift_del	DEL	0.025	-	-	248224054	T	-	248224054	7	5	183	1	0	1	0	1	0	0	0	0	11010	1609	56	0	73	0	OR2L3	1	248224054	Frame_Shift_Del	DEL	T	TCGA-MB-A8JK-01A-11D-A36J-09	19822855	248224054	1026567	7	12753											
XPO1	7514	genome.wustl.edu	37	chr2	61726050	61726051	+	Splice_Site	INS	-	-	A													gagaattcattgcacatgctINSaaaaaaaaaaacacacaaaa					rs372688892		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:61726050_61726051insA	ENST00000401558.2	-	8	1318		c.e8-2		XPO1_ENST00000406957.1_Splice_Site|XPO1_ENST00000404992.2_Splice_Site	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1						gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGCACATGCTAAAAAAAAAAA	0.262			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0								ENSG00000082898																																			XPO1	SO:0001630	splice_region_variant	0				HGNC	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.591-2->T	2.37:g.61726061_61726061dupA		Somatic	0	21	0		0.542364332461213	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Splice_Site	INS							-	e7-2	ENST00000401558.2	37	c.591-3_591-2	CCDS33205.1	2																																																																																			-	-		0.262	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	protein_coding	OTTHUMT00000325872.3	-	NM_003400		Intron	61726051	-1	no_errors	ENST00000401558	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.996	A	A	61726051	-	A	61726050	8	5	183	1	0	1	1	0	0	0	1	0	17452	1536	53	0	2698	0	XPO1	2	61726050	Splice_Site	INS	-	TCGA-MB-A8JK-01A-11D-A36J-09		61726050	181473323	8	12754											
CCNT2	905	genome.wustl.edu	37	chr2	135694493	135694493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgttatcaaagtagcacAtgcttgtcttcatcctctag	6	10	4	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:135694493A>G	ENST00000264157.5	+	3	353	c.323A>G	c.(322-324)cAt>cGt	p.H108R	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.H108R	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	108					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAAGTAGCACATGCTTGTCTT	0.333																																																	0								ENSG00000082258						137	137	137					2																	135694493		2203	4300	6503	CCNT2	SO:0001583	missense	0			-	HGNC	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.323A>G	2.37:g.135694493A>G	ENSP00000264157:p.His108Arg	Somatic	0	21	0		0.542364332461213	10	44.44	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP							pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.H108R	ENST00000264157.5	37	c.323	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935184	0.73442	.	.	ENSG00000082258	ENST00000295238;ENST00000264157	T;T	0.10668	2.85;2.85	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.044474	0.85682	D	0.000000	T	0.12220	0.0297	L	0.45422	1.42	0.80722	D	1	B;P	0.37914	0.422;0.611	B;B	0.36845	0.158;0.234	T	0.04041	-1.0982	10	0.42905	T	0.14	.	15.7054	0.77577	1.0:0.0:0.0:0.0	.	108;108	O60583;O60583-2	CCNT2_HUMAN;.	R	108	ENSP00000295238:H108R;ENSP00000264157:H108R	ENSP00000264157:H108R	H	+	2	0	CCNT2	135410963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.163000	0.67991	0.533000	0.62120	CAT	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like		0.333	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	protein_coding	OTTHUMT00000254629.1	A	NM_058241	-		135694493	1	no_errors	ENST00000264157	ensembl	human	known	74_37	missense	SNP	1.000	G	G	135694493	A	G	135694493	3	3	183	1	0	0	0	0	1	0	0	0	2937	217	8	5	333	5	CCNT2	2	135694493	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	73968443	135694493	107504880	9	12755											
ZAK	51776	genome.wustl.edu	37	chr2	174034545	174034545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaggcagaaatactcAgtgtcctcagtcacagaaac	8	10	3	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:174034545A>G	ENST00000375213.3	+	3	250	c.172A>G	c.(172-174)Agt>Ggt	p.S58G	MLTK_ENST00000409176.2_Missense_Mutation_p.S58G|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000338983.3_Missense_Mutation_p.S58G|MLTK_ENST00000431503.2_5'UTR|MLTK_ENST00000539448.1_Missense_Mutation_p.S58G	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AGAAATACTCAGTGTCCTCAG	0.338																																																	0								ENSG00000091436						136	131	133					2																	174034545		2203	4300	6503	MLTK	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000375213.3:c.172A>G	2.37:g.174034545A>G	ENSP00000364361:p.Ser58Gly	Somatic	0	53	0		0.542364332461213	31	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S58G	ENST00000375213.3	37	c.172	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070150	0.76301	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.52206	1.635	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.995	P;D;D;P	0.75020	0.894;0.985;0.936;0.793	D	0.86400	0.1741	10	0.31617	T	0.26	.	15.5783	0.76410	1.0:0.0:0.0:0.0	.	58;58;58;58	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	G	58	ENSP00000439414:S58G;ENSP00000387259:S58G;ENSP00000340257:S58G;ENSP00000364361:S58G;ENSP00000411923:S58G	ENSP00000340257:S58G	S	+	1	0	AC013461.1	173742791	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.522000	0.90573	2.152000	0.67230	0.455000	0.32223	AGT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.338	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	A		-		174034545	1	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	SNP	1.000	G	G	174034545	A	G	174034545	3	3	183	1	0	0	0	0	1	0	0	0	17519	188	7	5	178	5	ZAK	2	174034545	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	38340052	174034545	69164828	10	12756											
NFE2L2	4780	genome.wustl.edu	37	chr2	178095856	178095856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattaatgcaagttgagctTcattgaactgctctttggac	9	7	2	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:178095856T>C	ENST00000397062.3	-	5	2029	c.1475A>G	c.(1474-1476)gAa>gGa	p.E492G	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E476G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E476G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E469G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	492					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGTTGAGCTTCATTGAACTG	0.388			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0								ENSG00000116044						174	153	159					2																	178095856		1849	4085	5934	NFE2L2	SO:0001583	missense	0			-	HGNC		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1475A>G	2.37:g.178095856T>C	ENSP00000380252:p.Glu492Gly	Somatic	0	19	0		0.542364332461213	291	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP							pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E492G	ENST00000397062.3	37	c.1475	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	19.69	3.875023	0.72180	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.95	5.95	0.96441	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.088284	0.85682	D	0.000000	D	0.95655	0.8587	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.965	D	0.96017	0.9006	10	0.87932	D	0	-17.8952	16.4069	0.83677	0.0:0.0:0.0:1.0	.	469;492	E9PGJ7;Q16236	.;NF2L2_HUMAN	G	476;492;469;220	ENSP00000380253:E476G;ENSP00000380252:E492G;ENSP00000411575:E469G;ENSP00000391590:E220G	ENSP00000380252:E492G	E	-	2	0	NFE2L2	177804102	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	GAA	-	superfamily_TF_DNA-bd		0.388	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	protein_coding	OTTHUMT00000257752.4	T	NM_006164	-		178095856	-1	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	SNP	1.000	C	C	178095856	T	C	178095856	3	2	183	1	0	0	0	0	1	0	0	0	10370	1783	62	5	346	5	NFE2L2	2	178095856	Missense_Mutation	SNP	T	TCGA-MB-A8JK-01A-11D-A36J-09	4061311	178095856	65103517	11	12757											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64582660	64582660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatccgccagcacaggtaCtggaacactaaacacatcag	10	12	1	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr3:64582660C>T	ENST00000498707.1	-	27	4367	c.4025G>A	c.(4024-4026)aGt>aAt	p.S1342N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S1314N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1342	TSP type-1 9. {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)		AGCACAGGTACTGGAACACTA	0.468																																																	0								ENSG00000163638						95	92	93					3																	64582660		2203	4300	6503	ADAMTS9	SO:0001583	missense	0			-	HGNC	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.4025G>A	3.37:g.64582660C>T	ENSP00000418735:p.Ser1342Asn	Somatic	0	45	0		0.542364332461213	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1342N	ENST00000498707.1	37	c.4025	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.927929|4.927929	0.92389|0.92389	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.54279|.	0.58;0.58|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.095675|.	0.64402|.	D|.	0.000001|.	D|D	0.82559|0.82559	0.5063|0.5063	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	P;D;B|.	0.61697|.	0.635;0.99;0.314|.	P;P;B|.	0.57244|.	0.461;0.816;0.178|.	T|T	0.83127|0.83127	-0.0115|-0.0115	10|5	0.66056|.	D|.	0.02|.	.|.	19.3682|19.3682	0.94473|0.94473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1314;1342;1342|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	N|I	1314;1342|398	ENSP00000295903:S1314N;ENSP00000418735:S1342N|.	ENSP00000295903:S1314N|.	S|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64557700|64557700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.273000|7.273000	0.78527|0.78527	2.818000|2.818000	0.97014|0.97014	0.591000|0.591000	0.81541|0.81541	AGT|GTA	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	C		-		64582660	-1	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64582660	C	T	64582660	3	4	183	1	0	0	0	0	1	0	0	0	273	565	20	2	1834	2	ADAMTS9	3	64582660	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		64582660	133439770	12	12758											
GMPS	8833	genome.wustl.edu	37	chr3	155615770	155615770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgctgaagatgctccctgGtttgatccagcaatattcac	8	10	1	3			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr3:155615770G>T	ENST00000496455.2	+	3	599	c.264G>T	c.(262-264)tgG>tgT	p.W88C	GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	88	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	ATGCTCCCTGGTTTGATCCAG	0.358			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0								ENSG00000163655						324	308	313					3																	155615770		1884	4120	6004	GMPS	SO:0001583	missense	0			-	HGNC	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.264G>T	3.37:g.155615770G>T	ENSP00000419851:p.Trp88Cys	Somatic	0	71	0		0.542364332461213	105	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP							pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.W88C	ENST00000496455.2	37	c.264	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068578	0.55539	.	.	ENSG00000163655	ENST00000496455;ENST00000537975;ENST00000541628	D	0.89343	-2.5	5.57	5.57	0.84162	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.070358	0.64402	D	0.000009	D	0.85626	0.5740	L	0.52011	1.625	0.80722	D	1	P	0.46912	0.886	B	0.34991	0.193	D	0.87537	0.2456	10	0.59425	D	0.04	-6.7736	19.5529	0.95328	0.0:0.0:1.0:0.0	.	88	P49915	GUAA_HUMAN	C	88;37;88	ENSP00000419851:W88C	ENSP00000419851:W88C	W	+	3	0	GMPS	157098464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.119000	0.71590	2.621000	0.88768	0.655000	0.94253	TGG	-	pfam_GATASE,tigrfam_GMP_synth_N		0.358	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	protein_coding	OTTHUMT00000351260.2	G		-		155615770	1	no_errors	ENST00000496455	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155615770	G	T	155615770	3	4	183	1	0	0	0	0	1	0	0	0	6500	1270	44	3	274	3	GMPS	3	155615770	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	91033110	155615770	42406660	13	12759											
C3orf55	152078	genome.wustl.edu	37	chr3	157318056	157318056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcactttggggagtcctctGccctgtatatatcccatatt	8	11	2	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr3:157318056G>T	ENST00000449199.2	+	5	518	c.377G>T	c.(376-378)tGc>tTc	p.C126F	C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Silent_p.L96L	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		126										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			GGAGTCCTCTGCCCTGTATAT	0.388																																																	0								ENSG00000174899						74	64	67					3																	157318056		692	1591	2283	C3orf55	SO:0001583	missense	0			-	HGNC																												ENST00000449199.2:c.377G>T	3.37:g.157318056G>T	ENSP00000413228:p.Cys126Phe	Somatic	0	64	0		0.542364332461213	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP							NULL	p.C126F	ENST00000449199.2	37	c.377	CCDS46943.1	3	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015889	0.19355	.	.	ENSG00000174899	ENST00000449199	T	0.53640	0.61	3.54	-2.96	0.05547	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.27673	-1.0067	8	0.72032	D	0.01	.	3.307	0.07003	0.2666:0.0:0.2616:0.4718	.	126	A1A4F0	CC055_HUMAN	F	126	ENSP00000413228:C126F	ENSP00000413228:C126F	C	+	2	0	C3orf55	158800750	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.935000	0.03950	-0.683000	0.05190	0.655000	0.94253	TGC	-	NULL		0.388	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	protein_coding	OTTHUMT00000352018.1	G		-		157318056	1	no_errors	ENST00000449199	ensembl	human	known	74_37	missense	SNP	0.000	T	T	157318056	G	T	157318056	3	4	183	1	0	0	0	0	1	0	0	0	2236	1319	46	3	450	3	C3orf55	3	157318056	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	1702286	157318056	40704374	14	12760											
MASP1	5648	genome.wustl.edu	37	chr3	186947606	186947606	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacagcatggcaatccaGggagtggtgcctttctgggc	15	9	1	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr3:186947606G>T	ENST00000337774.5	-	11	1772	c.1383C>A	c.(1381-1383)ccC>ccA	p.P461P		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	461	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)			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)		TGGCAATCCAGGGAGTGGTGC	0.597																																																	0								ENSG00000127241						80	75	77					3																	186947606		2203	4300	6503	MASP1	SO:0001819	synonymous_variant	0			-	HGNC	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.1383C>A	3.37:g.186947606G>T		Somatic	0	68	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P461	ENST00000337774.5	37	c.1383	CCDS33907.1	3																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.597	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	G	NM_001879	-		186947606	-1	no_errors	ENST00000337774	ensembl	human	known	74_37	silent	SNP	0.961	T	T	186947606	G	T	186947606	2	4	183	1	0	0	0	0	0	0	0	1	9324	987	35	3		3	MASP1	3	186947606	Silent	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	29629550	186947606	11074824	15	12761											
CLDN1	9076	genome.wustl.edu	37	chr3	190030660	190030660	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcacagcctctattaCctgcaagaagaaatatcgca	11	10	1	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr3:190030660C>T	ENST00000295522.3	-	2	657		c.e2+1			NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1						calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GCCTCTATTACCTGCAAGAAG	0.453																																																	0								ENSG00000163347						180	147	158					3																	190030660		2203	4300	6503	CLDN1	SO:0001630	splice_region_variant	0			-	HGNC	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"Claudins"	2032	protein-coding gene	gene with protein product	"senescence-associated epithelial membrane protein 1"	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.388+1G>A	3.37:g.190030660C>T		Somatic	0	43	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Splice_Site	SNP							-	e2+1	ENST00000295522.3	37	c.388+1	CCDS3295.1	3	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887454	0.52014	.	.	ENSG00000163347	ENST00000295522;ENST00000545382	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.143	0.93452	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLDN1	191513354	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.543000	0.82106	2.873000	0.98535	0.561000	0.74099	.	-	-		0.453	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN1	protein_coding	OTTHUMT00000343516.2	C	NM_021101	-	Intron	190030660	-1	no_errors	ENST00000295522	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	190030660	C	T	190030660	5	4	183	1	0	0	0	0	0	0	1	0	3473	521	18	2	258	2	CLDN1	3	190030660	Splice_Site	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	3083054	190030660	7991770	16	12762											
WDR1	9948	genome.wustl.edu	37	chr4	10077097	10077097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctgctgacatggtgcaGccggtgtgcatctgggaaga	16	9	1	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr4:10077097G>T	ENST00000499869.2	-	15	1919	c.1726C>A	c.(1726-1728)Ctg>Atg	p.L576M	WDR1_ENST00000382452.2_Missense_Mutation_p.L576M|WDR1_ENST00000382451.2_Missense_Mutation_p.L436M|RP11-448G15.3_ENST00000561486.1_RNA|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.L436M			O75083	WDR1_HUMAN	WD repeat domain 1	576					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACATGGTGCAGCCGGTGTGCA	0.532																																																	0								ENSG00000071127						46	51	49					4																	10077097		2112	4231	6343	WDR1	SO:0001583	missense	0			-	HGNC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1726C>A	4.37:g.10077097G>T	ENSP00000427687:p.Leu576Met	Somatic	0	38	0		0.542364332461213	994	0.3	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L576M	ENST00000499869.2	37	c.1726	CCDS54740.1	4	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035327	0.35893	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	T;T;T;T	0.56103	0.67;0.67;0.48;0.48	5.7	4.74	0.60224	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	0.62660	0.2446	L	0.45051	1.395	0.54753	D	0.99998	D;P	0.89917	1.0;0.944	D;B	0.91635	0.999;0.437	T	0.59679	-0.7409	10	0.41790	T	0.15	-13.2696	12.033	0.53408	0.1134:0.0:0.8866:0.0	.	436;576	O75083-3;O75083	.;WDR1_HUMAN	M	576;576;436;436;411	ENSP00000427687:L576M;ENSP00000371890:L576M;ENSP00000371889:L436M;ENSP00000426725:L436M	ENSP00000371889:L436M	L	-	1	2	WDR1	9686195	0.998000	0.40836	0.982000	0.44146	0.948000	0.59901	1.847000	0.39299	2.689000	0.91719	0.462000	0.41574	CTG	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.532	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	protein_coding	OTTHUMT00000359877.1	G		-		10077097	-1	no_errors	ENST00000382452	ensembl	human	known	74_37	missense	SNP	0.994	T	T	10077097	G	T	10077097	3	4	183	1	0	0	0	0	1	0	0	0	17279	962	34	3	98	3	WDR1	4	10077097	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09		10077097	181077179	17	12763											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33576831	33576831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacattttcctcacttggCtgaatgctcaaggattggga	10	8	2	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr5:33576831C>T	ENST00000504830.1	-	19	3635	c.3300G>A	c.(3298-3300)caG>caA	p.Q1100Q	ADAMTS12_ENST00000352040.3_Silent_p.Q1015Q|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1100	Spacer 2.				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						CCTCACTTGGCTGAATGCTCA	0.512										HNSCC(64;0.19)																																							0								ENSG00000151388						98	92	94					5																	33576831		2203	4300	6503	ADAMTS12	SO:0001819	synonymous_variant	0			-	HGNC	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.3300G>A	5.37:g.33576831C>T		Somatic	0	38	0		0.542364332461213	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q1100	ENST00000504830.1	37	c.3300	CCDS34140.1	5																																																																																			-	NULL		0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	C	NM_030955	-		33576831	-1	no_errors	ENST00000504830	ensembl	human	known	74_37	silent	SNP	0.054	T	T	33576831	C	T	33576831	2	4	183	1	0	0	0	0	0	0	0	1	257	796	28	2		2	ADAMTS12	5	33576831	Silent	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		33576831	147338429	18	12764											
ANKRA2	57763	genome.wustl.edu	37	chr5	72858439	72858439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaataggacagatgccaCctccaggtcagagttaacct	8	10	1	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr5:72858439C>T	ENST00000296785.3	-	2	926	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	90						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		ACAGATGCCACCTCCAGGTCA	0.328																																																	0								ENSG00000164331						89	91	90					5																	72858439		2203	4300	6503	ANKRA2	SO:0001583	missense	0			-	HGNC	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.268G>A	5.37:g.72858439C>T	ENSP00000296785:p.Val90Met	Somatic	0	68	0		0.542364332461213	15	25	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	62	26.19		Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V90M	ENST00000296785.3	37	c.268	CCDS4020.1	5	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598861	0.87055	.	.	ENSG00000164331	ENST00000296785;ENST00000504641	T;T	0.57436	0.92;0.4	5.21	5.21	0.72293	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.91635	0.999;0.969	T	0.69363	-0.5165	10	0.62326	D	0.03	-15.5892	18.7735	0.91901	0.0:1.0:0.0:0.0	.	90;90	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	M	90	ENSP00000296785:V90M;ENSP00000422643:V90M	ENSP00000296785:V90M	V	-	1	0	ANKRA2	72894195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.426000	0.82243	0.655000	0.94253	GTG	-	NULL		0.328	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRA2	protein_coding	OTTHUMT00000219814.2	C	NM_023039	-		72858439	-1	no_errors	ENST00000296785	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72858439	C	T	72858439	3	4	183	1	0	0	0	0	1	0	0	0	636	507	18	2	705	2	ANKRA2	5	72858439	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	39281608	72858439	108056821	19	12765											
SOX4	6659	genome.wustl.edu	37	chr6	21595992	21595992	+	Frame_Shift_Del	DEL	C	C	-													gacgacctgctcgacctgaaCcccagctcaaactttgagag							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr6:21595992delC	ENST00000244745.1	+	1	2021	c.1227delC	c.(1225-1227)aacfs	p.N409fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.N409fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	409					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TCGACCTGAACCCCAGCTCAA	0.642																																																	0								ENSG00000124766						29	25	26					6																	21595992		2202	4299	6501	SOX4	SO:0001589	frameshift_variant	0				HGNC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1227delC	6.37:g.21595992delC	ENSP00000244745:p.Asn409fs	Somatic	0	95	0		0.542364332461213	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	50	50.50		Frame_Shift_Del	DEL							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.S411fs	ENST00000244745.1	37	c.1227	CCDS4547.1	6																																																																																			-	pirsf_SOX-12/11/4a		0.642	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX4	protein_coding	OTTHUMT00000043301.1	C	NM_003107			21595992	1	no_errors	ENST00000244745	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	21595992	C	-	21595992	7	5	183	1	0	1	0	1	0	0	0	0	14961	506	18	0	1229	0	SOX4	6	21595992	Frame_Shift_Del	DEL	C	TCGA-MB-A8JK-01A-11D-A36J-09		21595992	149519075	20	12766											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713598	32713598	+	Missense_Mutation	SNP	T	T	C													ggtcacagtgttttccaagtTtcctgtgacgctgggtcagc					rs138296677	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr6:32713598T>C	ENST00000374940.3	+	3	464	c.362T>C	c.(361-363)tTt>tCt	p.F121S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	121	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTTTCCAAGTTTCCTGTGACG	0.512													T|||	352	0.0702875	0.0961	0.0677	5008	,	,		25198	0.0873		0.0507	False		,,,				2504	0.0399																0								ENSG00000237541						179	140	154					6																	32713598		1511	2709	4220	HLA-DQA2	SO:0001583	missense	0			-	HGNC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.362T>C	6.37:g.32713598T>C	ENSP00000364076:p.Phe121Ser	Somatic	0	60	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	71	13.41	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP							pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.F121S	ENST00000374940.3	37	c.362	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	0	-2.802170	0.00075	.	.	ENSG00000237541	ENST00000374940	T	0.00572	6.49	3.06	-0.236	0.13067	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.726686	0.12656	N	0.450006	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24119	-1.0169	10	0.02654	T	1	.	0.5152	0.00602	0.1938:0.3561:0.1905:0.2596	.	121	P01906	DQA2_HUMAN	S	121	ENSP00000364076:F121S	ENSP00000364076:F121S	F	+	2	0	HLA-DQA2	32821576	0.000000	0.05858	0.837000	0.33122	0.054000	0.15201	0.039000	0.13884	0.145000	0.18977	-1.188000	0.01700	TTT	-	pfscan_Ig-like_dom		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	protein_coding	OTTHUMT00000076179.2	T	NM_020056	rs138296677		32713598	1	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	SNP	0.252	C	C	32713598	T	C	32713598	3	2	183	1	0	0	0	0	1	0	0	0	7207	1841	64	5	372	5	HLA-DQA2	6	32713598	Missense_Mutation	SNP	T	TCGA-MB-A8JK-01A-11D-A36J-09	11117606	32713598	138401469	21	12767	192	2									
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713602	32713602	+	Silent	SNP	T	T	C													acagtgttttccaagtttccTgtgacgctgggtcagcccaa					rs142901825	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr6:32713602T>C	ENST00000374940.3	+	3	468	c.366T>C	c.(364-366)ccT>ccC	p.P122P		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CCAAGTTTCCTGTGACGCTGG	0.507													T|||	301	0.0601038	0.0605	0.0677	5008	,	,		23748	0.0873		0.0467	False		,,,				2504	0.0399																0								ENSG00000237541						184	144	159					6																	32713602		1511	2709	4220	HLA-DQA2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.366T>C	6.37:g.32713602T>C		Somatic	0	56	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	78	10.34	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP							pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P122	ENST00000374940.3	37	c.366	CCDS4753.1	6																																																																																			-	pfam_Ig_C1-set,pfscan_Ig-like_dom		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	protein_coding	OTTHUMT00000076179.2	T	NM_020056	rs142901825		32713602	1	no_errors	ENST00000374940	ensembl	human	known	74_37	silent	SNP	0.078	C	C	32713602	T	C	32713602	2	2	183	1	0	0	0	0	0	0	0	1	7207	1567	55	5		5	HLA-DQA2	6	32713602	Silent	SNP	T	TCGA-MB-A8JK-01A-11D-A36J-09	4	32713602	138401465	22	12768	192	2									
LIMK1	3984	genome.wustl.edu	37	chr7	73500126	73500126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccagaggatctatgatgGccagtacctccaggccctga	12	13	1	3			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:73500126G>T	ENST00000336180.2	+	2	155	c.104G>T	c.(103-105)gGc>gTc	p.G35V	LIMK1_ENST00000418310.1_Missense_Mutation_p.G65V	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	35	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	ATCTATGATGGCCAGTACCTC	0.607																																																	0								ENSG00000106683						75	52	60					7																	73500126		2185	4276	6461	LIMK1	SO:0001583	missense	0			-	HGNC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.104G>T	7.37:g.73500126G>T	ENSP00000336740:p.Gly35Val	Somatic	0	41	0		0.542364332461213	39	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G35V	ENST00000336180.2	37	c.104	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987582	0.35036	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180	D;D	0.87256	-2.23;-2.23	4.66	2.81	0.32909	Zinc finger, LIM-type (5);	0.121926	0.56097	U	0.000040	D	0.85613	0.5737	L	0.55743	1.74	0.80722	D	1	B	0.33964	0.434	B	0.43018	0.405	T	0.81901	-0.0720	10	0.62326	D	0.03	-19.4615	7.7842	0.29083	0.2006:0.0:0.7994:0.0	.	35	P53667	LIMK1_HUMAN	V	65;35;35	ENSP00000409717:G65V;ENSP00000336740:G35V	ENSP00000336740:G35V	G	+	2	0	LIMK1	73138062	1.000000	0.71417	0.977000	0.42913	0.836000	0.47400	3.381000	0.52455	0.381000	0.24851	0.306000	0.20318	GGC	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.607	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	protein_coding	OTTHUMT00000252335.2	G	NM_002314	-		73500126	1	no_errors	ENST00000336180	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73500126	G	T	73500126	3	4	183	1	0	0	0	0	1	0	0	0	8803	1203	42	3	110	3	LIMK1	7	73500126	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09		73500126	85638537	23	12769											
ABCB1	5243	genome.wustl.edu	37	chr7	87214969	87214969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcccaccaccatatacaActtgtcaagccaatttgaat	4	12	1	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:87214969A>G	ENST00000265724.3	-	5	562	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	ABCB1_ENST00000543898.1_Silent_p.L49L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	49					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACCATATACAACTTGTCAAGC	0.393																																																	0								ENSG00000085563						65	68	67					7																	87214969		2203	4300	6503	ABCB1	SO:0001819	synonymous_variant	0			-	HGNC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.145T>C	7.37:g.87214969A>G		Somatic	0	46	0		0.542364332461213	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.00	A8K294|B5AK60|Q12755|Q14812	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L49	ENST00000265724.3	37	c.145	CCDS5608.1	7																																																																																			-	superfamily_ABC1_TM_dom		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	protein_coding	OTTHUMT00000335444.2	A	NM_000927	-		87214969	-1	no_errors	ENST00000265724	ensembl	human	known	74_37	silent	SNP	0.210	G	G	87214969	A	G	87214969	2	3	183	1	0	0	0	0	0	0	0	1	40	40	2	5		5	ABCB1	7	87214969	Silent	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	13714843	87214969	71923694	24	12770											
SAMD9	54809	genome.wustl.edu	37	chr7	92735360	92735360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaccactgatttacatcCtcttttgtccaatcatctgt	3	12	4	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:92735360C>T	ENST00000379958.2	-	3	320	c.51G>A	c.(49-51)gaG>gaA	p.E17E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	17	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTACATCCTCTTTTGTCC	0.318																																																	0								ENSG00000205413						83	83	83					7																	92735360		2202	4297	6499	SAMD9	SO:0001819	synonymous_variant	0			-	HGNC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.51G>A	7.37:g.92735360C>T		Somatic	0	56	0		0.542364332461213	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.E17	ENST00000379958.2	37	c.51	CCDS34680.1	7																																																																																			-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.318	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	protein_coding	OTTHUMT00000341761.1	C	NM_017654	-		92735360	-1	no_errors	ENST00000379958	ensembl	human	known	74_37	silent	SNP	0.768	T	T	92735360	C	T	92735360	2	4	183	1	0	0	0	0	0	0	0	1	13834	680	24	2		2	SAMD9	7	92735360	Silent	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	5520391	92735360	66403303	25	12771											
MLL5	55904	genome.wustl.edu	37	chr7	104747062	104747062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactccttccccgtatgctaCaccaactcacaccgatatta	3	16	1	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:104747062C>A	ENST00000311117.3	+	20	3235	c.2690C>A	c.(2689-2691)aCa>aAa	p.T897K	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.T897K|KMT2E_ENST00000257745.4_Missense_Mutation_p.T897K|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	897					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCGTATGCTACACCAACTCAC	0.408																																																	0								ENSG00000005483						158	158	158					7																	104747062		2203	4300	6503	KMT2E	SO:0001583	missense	0			-	HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2690C>A	7.37:g.104747062C>A	ENSP00000312379:p.Thr897Lys	Somatic	0	39	0		0.542364332461213	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP							pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.T897K	ENST00000311117.3	37	c.2690	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760318	0.69763	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.92495	-3.05;-2.63;-3.05	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.93471	0.7917	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.94421	0.7641	10	0.66056	D	0.02	.	19.0324	0.92963	0.0:1.0:0.0:0.0	.	897	Q8IZD2	MLL5_HUMAN	K	897;897;897;817;897	ENSP00000312379:T897K;ENSP00000335599:T897K;ENSP00000257745:T897K	ENSP00000257745:T897K	T	+	2	0	MLL5	104534298	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.359000	0.66074	2.491000	0.84063	0.585000	0.79938	ACA	-	NULL		0.408	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	C		-		104747062	1	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	SNP	0.999	A	A	104747062	C	A	104747062	3	1	183	1	0	0	0	0	1	0	0	0	9626	478	17	3	2760	3	MLL5	7	104747062	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	12011702	104747062	54391601	26	12772											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113519017	113519017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagagaagacagttcacaGcacactgtttcttggcaggt	11	9	2	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:113519017G>A	ENST00000284601.3	-	4	2198	c.2130C>T	c.(2128-2130)tgC>tgT	p.C710C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	710					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						ACAGTTCACAGCACACTGTTT	0.403																																																	0								ENSG00000154415						203	198	200					7																	113519017		2203	4300	6503	PPP1R3A	SO:0001819	synonymous_variant	0			-	HGNC	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.2130C>T	7.37:g.113519017G>A		Somatic	0	34	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP							pfam_CBM_21,pfscan_CBM_21	p.C710	ENST00000284601.3	37	c.2130	CCDS5759.1	7																																																																																			-	NULL		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	G	NM_002711	-		113519017	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	silent	SNP	0.031	A	A	113519017	G	A	113519017	2	1	183	1	0	0	0	0	0	0	0	1	12376	963	34	2		2	PPP1R3A	7	113519017	Silent	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	8771955	113519017	45619646	27	12773											
PRKDC	5591	genome.wustl.edu	37	chr8	48739410	48739410	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcagcagggctgcgtgctGacagctaatgtcctgtgaaa	13	10	1	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr8:48739410G>A	ENST00000314191.2	-	64	8643	c.8587C>T	c.(8587-8589)Cag>Tag	p.Q2863*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q2863*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2864	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCTGCGTGCTGACAGCTAATG	0.537								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						11	14	13					8																	48739410		1998	4170	6168	PRKDC	SO:0001587	stop_gained	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8587C>T	8.37:g.48739410G>A	ENSP00000313420:p.Gln2863*	Somatic	0	96	0		0.542364332461213	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q2863*	ENST00000314191.2	37	c.8587		8	.	.	.	.	.	.	.	.	.	.	G	49	15.088007	0.99822	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.55	3.75	0.43078	.	0.243294	0.34362	N	0.004027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.7983	0.78428	0.0:0.0:0.7154:0.2846	.	.	.	.	X	2863	.	ENSP00000313420:Q2863X	Q	-	1	0	PRKDC	48901963	1.000000	0.71417	0.153000	0.22517	0.433000	0.31745	4.437000	0.59955	0.684000	0.31448	0.655000	0.94253	CAG	-	NULL		0.537	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		G	NM_001081640	-		48739410	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	48739410	G	A	48739410	4	1	183	1	0	0	0	0	0	1	0	0	12526	1299	45	2	3892	2	PRKDC	8	48739410	Nonsense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09		48739410	97624612	28	12774											
SLC31A2	1318	genome.wustl.edu	37	chr9	115923976	115923976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttggcagaacccaccaCaggtacaggcagtgggtatg	13	11	0	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr9:115923976C>T	ENST00000259392.3	+	3	394	c.261C>T	c.(259-261)caC>caT	p.H87H		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	87					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	GAACCCACCACAGGTACAGGC	0.572																																																	0								ENSG00000136867						64	64	64					9																	115923976		2042	4196	6238	SLC31A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"Solute carriers"	11017	protein-coding gene	gene with protein product	"copper transporter 2"	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.261C>T	9.37:g.115923976C>T		Somatic	0	45	0		0.542364332461213	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		Silent	SNP							pfam_Cop_transporter	p.H87	ENST00000259392.3	37	c.261	CCDS6788.1	9																																																																																			-	pfam_Cop_transporter		0.572	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	protein_coding	OTTHUMT00000055509.2	C	NM_001860	-		115923976	1	no_errors	ENST00000259392	ensembl	human	known	74_37	silent	SNP	0.980	T	T	115923976	C	T	115923976	2	4	183	1	0	0	0	0	0	0	0	1	14572	477	17	2		2	SLC31A2	9	115923976	Silent	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		115923976	25289455	29	12775											
LRRC8A	56262	genome.wustl.edu	37	chr9	131669718	131669718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctgccgacccctgacaCgggccccacaggcatcaagt	9	17	2	1	rs150865438	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr9:131669718C>T	ENST00000259324.5	+	3	798	c.275C>T	c.(274-276)aCg>aTg	p.T92M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T92M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T92M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	92					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACCCCTGACACGGGCCCCACA	0.607													C|||	2	0.000399361	0	0	5008	,	,		17505	0		0.001	False		,,,				2504	0.001																0								ENSG00000136802	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	62	65	64		275,275,275	5.4	0	9	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	81,81,81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	92/811,92/811,92/811	131669718	3,13003	2203	4300	6503	LRRC8A	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.275C>T	9.37:g.131669718C>T	ENSP00000259324:p.Thr92Met	Somatic	0	28	0		0.542364332461213	90	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T92M	ENST00000259324.5	37	c.275	CCDS35155.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.033	0.560957	0.13498	2.27E-4	2.33E-4	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.29142	1.58;1.58;1.58	5.41	5.41	0.78517	.	0.657806	0.16024	N	0.233174	T	0.20292	0.0488	N	0.08118	0	0.24725	N	0.993125	B	0.10296	0.003	B	0.08055	0.003	T	0.13548	-1.0505	10	0.36615	T	0.2	.	18.1836	0.89786	0.0:1.0:0.0:0.0	.	92	Q8IWT6	LRC8A_HUMAN	M	92	ENSP00000361682:T92M;ENSP00000361680:T92M;ENSP00000259324:T92M	ENSP00000259324:T92M	T	+	2	0	LRRC8A	130709539	0.004000	0.15560	0.007000	0.13788	0.435000	0.31806	2.108000	0.41854	2.537000	0.85549	0.563000	0.77884	ACG	-	NULL		0.607	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	protein_coding	OTTHUMT00000054516.2	C	NM_019594	rs150865438		131669718	1	no_errors	ENST00000259324	ensembl	human	known	74_37	missense	SNP	0.364	T	T	131669718	C	T	131669718	3	4	183	1	0	0	0	0	1	0	0	0	9023	536	19	1	277	1	LRRC8A	9	131669718	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	15745742	131669718	9543713	30	12776											
LAMC3	10319	genome.wustl.edu	37	chr9	133954581	133954581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgaaggcgaaggccCtggagaagacagttgcatca	15	9	1	3			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr9:133954581C>T	ENST00000361069.4	+	23	3956	c.3823C>T	c.(3823-3825)Ctg>Ttg	p.L1275L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1275	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCGAAGGCCCTGGAGAAGAC	0.632																																																	0								ENSG00000050555						50	43	45					9																	133954581		2203	4300	6503	LAMC3	SO:0001819	synonymous_variant	0			-	HGNC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3823C>T	9.37:g.133954581C>T		Somatic	0	61	0		0.542364332461213	97	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	54	34.15	B1APX9|B1APY0|Q59H72	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1275	ENST00000361069.4	37	c.3823	CCDS6938.1	9																																																																																			-	NULL		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	C	NM_006059	-		133954581	1	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	SNP	0.318	T	T	133954581	C	T	133954581	2	4	183	1	0	0	0	0	0	0	0	1	8618	680	24	2		2	LAMC3	9	133954581	Silent	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	2284863	133954581	7258850	31	12777											
SURF6	6838	genome.wustl.edu	37	chr9	136199122	136199122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgaggttccccttcacCctctgcctcttctcttttct	7	16	5	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr9:136199122C>A	ENST00000372022.4	-	5	934	c.669G>T	c.(667-669)agG>agT	p.R223S	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	223					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCCTTCACCCTCTGCCTCT	0.667																																																	0								ENSG00000148296						59	64	62					9																	136199122		2203	4289	6492	SURF6	SO:0001583	missense	0			-	HGNC	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.669G>T	9.37:g.136199122C>A	ENSP00000361092:p.Arg223Ser	Somatic	0	25	0		0.542364332461213	74	30.19	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP							pfam_Surf6	p.R223S	ENST00000372022.4	37	c.669	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	C	10.90	1.479899	0.26511	.	.	ENSG00000148296	ENST00000372022	T	0.13901	2.55	4.94	1.82	0.25136	.	0.716909	0.13252	N	0.401984	T	0.08846	0.0219	L	0.34521	1.04	0.19300	N	0.99998	B	0.18610	0.029	B	0.14023	0.01	T	0.35375	-0.9791	10	0.18710	T	0.47	-8.4624	6.0412	0.19736	0.1479:0.619:0.0:0.2331	.	223	O75683	SURF6_HUMAN	S	223	ENSP00000361092:R223S	ENSP00000361092:R223S	R	-	3	2	SURF6	135188943	0.000000	0.05858	0.991000	0.47740	0.887000	0.51463	-0.413000	0.07123	1.022000	0.39626	0.467000	0.42956	AGG	-	pfam_Surf6		0.667	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	protein_coding	OTTHUMT00000054905.1	C	NM_006753	-		136199122	-1	no_errors	ENST00000372022	ensembl	human	known	74_37	missense	SNP	0.187	A	A	136199122	C	A	136199122	3	1	183	1	0	0	0	0	1	0	0	0	15413	622	22	3	420	3	SURF6	9	136199122	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	2244541	136199122	5014309	32	12778											
DNA2	1763	genome.wustl.edu	37	chr10	70176522	70176522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaggaggatagcaatttaGtgagggcacacaccccagaa	11	9	0	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr10:70176522G>T	ENST00000358410.3	-	20	3108	c.3058C>A	c.(3058-3060)Cta>Ata	p.L1020I	DNA2_ENST00000399180.2_Missense_Mutation_p.L1106I|DNA2_ENST00000399179.2_Missense_Mutation_p.L782I	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	1020	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TAGCAATTTAGTGAGGGCACA	0.373																																																	0								ENSG00000138346						99	97	97					10																	70176522		1831	4092	5923	DNA2	SO:0001583	missense	0			-	HGNC	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.3058C>A	10.37:g.70176522G>T	ENSP00000351185:p.Leu1020Ile	Somatic	0	57	0		0.542364332461213	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP							pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase	p.L1106I	ENST00000358410.3	37	c.3316		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.57|17.57	3.422138|3.422138	0.62622|0.62622	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410|ENST00000440722	D;D;D|.	0.83250|.	-1.7;-1.7;-1.7|.	5.08|5.08	-0.0613|-0.0613	0.13785|0.13785	.|.	0.160698|.	0.42172|.	D|.	0.000760|.	T|T	0.39172|0.39172	0.1068|0.1068	L|L	0.55990|0.55990	1.75|1.75	0.21627|0.21627	N|N	0.999613|0.999613	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.986;0.997|.	T|T	0.32981|0.32981	-0.9886|-0.9886	10|5	0.49607|.	T|.	0.09|.	.|.	6.0611|6.0611	0.19839|0.19839	0.2687:0.0:0.6103:0.121|0.2687:0.0:0.6103:0.121	.|.	782;1020|.	F8VR31;P51530|.	.;DNA2L_HUMAN|.	I|N	782;1106;782;1020|341	ENSP00000382133:L1106I;ENSP00000382132:L782I;ENSP00000351185:L1020I|.	ENSP00000351185:L1020I|.	L|T	-|-	1|2	2|0	DNA2|DNA2	69846528|69846528	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.933000|0.933000	0.57130|0.57130	3.141000|3.141000	0.50593|0.50593	-0.300000|-0.300000	0.08895|0.08895	-0.822000|-0.822000	0.03109|0.03109	CTA|ACT	-	NULL		0.373	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	protein_coding	OTTHUMT00000048334.2	G		-		70176522	-1	no_errors	ENST00000399180	ensembl	human	known	74_37	missense	SNP	0.734	T	T	70176522	G	T	70176522	3	4	183	1	0	0	0	0	1	0	0	0	4598	1020	36	3	132	3	DNA2	10	70176522	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09		70176522	65358225	33	12779											
DLG5	9231	genome.wustl.edu	37	chr10	79565430	79565430	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagccacttgccttcaaaGagtggaatggagtcactgga	11	10	3	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr10:79565430G>T	ENST00000372391.2	-	27	5162	c.5157C>A	c.(5155-5157)ctC>ctA	p.L1719L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1379L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1719					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCCTTCAAAGAGTGGAATGG	0.527																																																	0								ENSG00000151208						119	96	104					10																	79565430		2203	4300	6503	DLG5	SO:0001819	synonymous_variant	0			-	HGNC	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5157C>A	10.37:g.79565430G>T		Somatic	0	59	0		0.542364332461213	123	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP							pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.L1719	ENST00000372391.2	37	c.5157	CCDS7353.2	10																																																																																			-	NULL		0.527	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	protein_coding	OTTHUMT00000048900.2	G		-		79565430	-1	no_errors	ENST00000372391	ensembl	human	known	74_37	silent	SNP	1.000	T	T	79565430	G	T	79565430	2	4	183	1	0	0	0	0	0	0	0	1	4560	929	33	3		3	DLG5	10	79565430	Silent	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	9388908	79565430	55969317	34	12780											
ABCC2	1244	genome.wustl.edu	37	chr10	101578579	101578579	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgggggtcagaagcagcgGatcagcctggccagagctac	16	10	2	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr10:101578579G>T	ENST00000370449.4	+	18	2417	c.2304G>T	c.(2302-2304)cgG>cgT	p.R768R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	768	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> W (in DJS; dbSNP:rs56199535). {ECO:0000269|PubMed:10053008, ECO:0000269|PubMed:11266082, ECO:0000269|PubMed:9425227}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGAAGCAGCGGATCAGCCTGG	0.413																																																	0								ENSG00000023839						82	86	85					10																	101578579		2203	4300	6503	ABCC2	SO:0001819	synonymous_variant	0			-	HGNC	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2304G>T	10.37:g.101578579G>T		Somatic	0	69	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R768	ENST00000370449.4	37	c.2304	CCDS7484.1	10																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.413	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	G	NM_000392	-		101578579	1	no_errors	ENST00000370449	ensembl	human	known	74_37	silent	SNP	0.585	T	T	101578579	G	T	101578579	2	4	183	1	0	0	0	0	0	0	0	1	53	1161	41	3		3	ABCC2	10	101578579	Silent	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	22013149	101578579	33956168	35	12781											
FGFR2	2263	genome.wustl.edu	37	chr10	123278339	123278339	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cattggaactatttatccccGagtgctagaacagacacagg	9	10	0	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr10:123278339G>T	ENST00000358487.5	-	7	1212				FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000478859.1_Intron|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.S200*|FGFR2_ENST00000346997.2_Intron|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.S315*|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000360144.3_Nonsense_Mutation_p.S226*|FGFR2_ENST00000351936.6_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.S315*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATTTATCCCCGAGTGCTAGAA	0.468		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0								ENSG00000066468						79	74	76					10																	123278339		1987	4155	6142	FGFR2	SO:0001627	intron_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	-	HGNC	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.939+1153C>A	10.37:g.123278339G>T		Somatic	0	35	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Nonsense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S315*	ENST00000358487.5	37	c.944	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.196113	0.99645	.	.	ENSG00000066468	ENST00000369059;ENST00000457416;ENST00000360144;ENST00000369056;ENST00000369058	.	.	.	6.01	6.01	0.97437	.	0.207951	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	200;315;226;315;315	.	ENSP00000353262:S226X	S	-	2	0	FGFR2	123268329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.860000	0.99555	2.861000	0.98227	0.650000	0.86243	TCG	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.468	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	protein_coding	OTTHUMT00000050715.1	G	NM_022976, NM_000141	-		123278339	-1	no_errors	ENST00000457416	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	123278339	G	T	123278339	1	4	183	0	1	0	0	0	0	0	0	0	5868	1059	37	3		3	FGFR2	10	123278339	Intron	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	21699760	123278339	12256408	36	12782											
F2	2147	genome.wustl.edu	37	chr11	46744808	46744808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcattgagtgccagctatGgaggagtcgctacccacata	12	10	0	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:46744808G>T	ENST00000311907.5	+	5	451	c.395G>T	c.(394-396)tGg>tTg	p.W132L	F2_ENST00000530231.1_Missense_Mutation_p.W132L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	132	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TGCCAGCTATGGAGGAGTCGC	0.612																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0								ENSG00000180210						115	107	110					11																	46744808		2201	4299	6500	F2	SO:0001583	missense	0			-	HGNC	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.395G>T	11.37:g.46744808G>T	ENSP00000308541:p.Trp132Leu	Somatic	0	50	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.W132L	ENST00000311907.5	37	c.395	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918059	0.92249	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.96685	-4.09;-4.09;-4.09	5.33	5.33	0.75918	Kringle (5);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99072	1.0834	10	0.87932	D	0	.	19.031	0.92957	0.0:0.0:1.0:0.0	.	132	P00734	THRB_HUMAN	L	132;132;122	ENSP00000308541:W132L;ENSP00000433907:W132L;ENSP00000387413:W122L	ENSP00000308541:W132L	W	+	2	0	F2	46701384	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	8.628000	0.90979	2.502000	0.84385	0.511000	0.50034	TGG	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle		0.612	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	protein_coding	OTTHUMT00000317706.1	G		-		46744808	1	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46744808	G	T	46744808	3	4	183	1	0	0	0	0	1	0	0	0	5344	1357	47	3	413	3	F2	11	46744808	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09		46744808	88261708	37	12783											
LPXN	9404	genome.wustl.edu	37	chr11	58338061	58338061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttatcctgaatagaaaGgatctccgaagtctcatcaa	8	8	3	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:58338061G>T	ENST00000395074.2	-	2	227	c.139C>A	c.(139-141)Ctt>Att	p.L47I	LPXN_ENST00000528489.1_Silent_p.S42S|LPXN_ENST00000528954.1_Missense_Mutation_p.L52I	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	47					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGAATAGAAAGGATCTCCGAA	0.413																																																	0								ENSG00000110031						94	90	92					11																	58338061		2201	4295	6496	LPXN	SO:0001583	missense	0			-	HGNC	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.139C>A	11.37:g.58338061G>T	ENSP00000378512:p.Leu47Ile	Somatic	0	41	0		0.542364332461213	20	20	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP							pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.L52I	ENST00000395074.2	37	c.154	CCDS7969.1	11	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255191	0.22965	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.30981	1.51;1.52	4.96	-0.159	0.13379	.	1.478620	0.04346	N	0.354819	T	0.28034	0.0691	L	0.57536	1.79	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.19946	0.006;0.027	T	0.21895	-1.0232	10	0.22706	T	0.39	.	4.0233	0.09675	0.2748:0.3611:0.3642:0.0	.	52;47	B4DV71;O60711	.;LPXN_HUMAN	I	52;47	ENSP00000431284:L52I;ENSP00000378512:L47I	ENSP00000378512:L47I	L	-	1	0	LPXN	58094637	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.003000	0.13083	0.355000	0.24131	0.557000	0.71058	CTT	-	pirsf_Leupaxin		0.413	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	protein_coding	OTTHUMT00000394709.1	G	NM_004811	-		58338061	-1	no_errors	ENST00000528954	ensembl	human	known	74_37	missense	SNP	0.000	T	T	58338061	G	T	58338061	3	4	183	1	0	0	0	0	1	0	0	0	8931	1000	35	3	1053	3	LPXN	11	58338061	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	11593253	58338061	76668455	38	12784											
NRXN2	9379	genome.wustl.edu	37	chr11	64374700	64374700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgtctttgttcttctTggccttgctgggcgtcttgg	11	11	4	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:64374700T>C	ENST00000377551.1	-	22	5318	c.5107A>G	c.(5107-5109)Aag>Gag	p.K1703E	NRXN2_ENST00000377559.3_Missense_Mutation_p.K1633E|NRXN2_ENST00000409571.1_Missense_Mutation_p.K1696E|NRXN2_ENST00000265459.6_Missense_Mutation_p.K1703E|NRXN2_ENST00000301894.2_Missense_Mutation_p.K657E			Q9P2S2	NRX2A_HUMAN	neurexin 2	1703					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTGTTCTTCTTGGCCTTGCTG	0.642																																																	0								ENSG00000110076						40	47	45					11																	64374700		2201	4297	6498	NRXN2	SO:0001583	missense	0			-	HGNC		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5107A>G	11.37:g.64374700T>C	ENSP00000366774:p.Lys1703Glu	Somatic	0	37	0		0.542364332461213	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	A7E2C1|Q9Y2D6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1703E	ENST00000377551.1	37	c.5107	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228368	0.58777	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.67171	0.25;-0.25;-0.22;-0.25;-0.14	4.45	3.32	0.38043	.	0.000000	0.44688	U	0.000433	T	0.71888	0.3393	L	0.46157	1.445	0.44890	D	0.997909	D;P;D;D	0.76494	0.999;0.61;0.998;0.993	D;B;D;P	0.85130	0.997;0.366;0.993;0.9	T	0.70407	-0.4880	10	0.44086	T	0.13	.	7.4111	0.27017	0.0:0.1063:0.0:0.8937	.	1633;1703;1449;657	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	E	657;1703;1633;1703;1633;1696	ENSP00000301894:K657E;ENSP00000366774:K1703E;ENSP00000366782:K1633E;ENSP00000265459:K1703E;ENSP00000386416:K1696E	ENSP00000265459:K1703E	K	-	1	0	NRXN2	64131276	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.695000	0.47043	1.650000	0.50662	0.254000	0.18369	AAG	-	NULL		0.642	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	protein_coding	OTTHUMT00000104967.3	T	NM_015080	-		64374700	-1	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	SNP	1.000	C	C	64374700	T	C	64374700	3	2	183	1	0	0	0	0	1	0	0	0	10668	1821	63	5	35	5	NRXN2	11	64374700	Missense_Mutation	SNP	T	TCGA-MB-A8JK-01A-11D-A36J-09	6036639	64374700	70631816	39	12785											
CTTN	2017	genome.wustl.edu	37	chr11	70265954	70265954	+	Frame_Shift_Del	DEL	C	C	-													caaaacggagaagcacgagtCccagaaaggtgtcttccgtt							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:70265954delC	ENST00000301843.8	+	9	877	c.671delC	c.(670-672)tccfs	p.S224fs	CTTN_ENST00000346329.3_Frame_Shift_Del_p.S224fs|CTTN_ENST00000376561.3_Frame_Shift_Del_p.S224fs|CTTN_ENST00000538675.1_5'Flank	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	224					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAGCACGAGTCCCAGAAAGGT	0.478																																																	0								ENSG00000085733						81	67	72					11																	70265954		2200	4294	6494	CTTN	SO:0001589	frameshift_variant	0				HGNC	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.671delC	11.37:g.70265954delC	ENSP00000301843:p.Ser224fs	Somatic	0	64	0		0.542364332461213	231	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	50	31.51	Q8N707|Q96H99	Frame_Shift_Del	DEL							pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.Q225fs	ENST00000301843.8	37	c.671	CCDS41680.1	11																																																																																			-	pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin		0.478	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	protein_coding	OTTHUMT00000259233.2	C	NM_138565			70265954	1	no_errors	ENST00000301843	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70265954	C	-	70265954	7	5	183	1	0	1	0	1	0	0	0	0	4046	855	30	0	697	0	CTTN	11	70265954	Frame_Shift_Del	DEL	C	TCGA-MB-A8JK-01A-11D-A36J-09	5891254	70265954	64740562	40	12786											
ZIC5	85416	genome.wustl.edu	37	chr13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-													cgccgccggccgggggcggtGgcggcggcggcggcggcggc					rs71114653		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	GGC	GGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)ccgcca>cca	p.420_421PP>P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	420	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724																																																	0								ENSG00000139800																																			ZIC5	SO:0001651	inframe_deletion	0				HGNC	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1260_1262delGCC	13.37:g.100622677_100622679delGGC	ENSP00000267294:p.Pro424del	Somatic	0	24	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q5VYB0	In_Frame_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P424in_frame_del	ENST00000267294.4	37	c.1262_1260	CCDS9494.2	13																																																																																			-	NULL		0.724	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	protein_coding	OTTHUMT00000045623.3	GGC	NM_033132			100622670	-1	no_errors	ENST00000267294	ensembl	human	known	74_37	in_frame_del	DEL	0.885:0.709:0.221	-	-	100622670	GGC	-	100622668	7	5	183	1	0	1	0	1	0	0	0	0	17689	1348	47	0	737	0	ZIC5	13	100622668	In_Frame_Del	DEL	GGC	TCGA-MB-A8JK-01A-11D-A36J-09		100622668	14547210	41	12787											
NALCN	259232	genome.wustl.edu	37	chr13	101763479	101763479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcccaagtatttacctgCgctcttggcggatatgatgc	9	11	2	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr13:101763479C>T	ENST00000251127.6	-	19	2372	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	764					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)					TATTTACCTGCGCTCTTGGCG	0.552																																																	0								ENSG00000102452						175	165	168					13																	101763479		2203	4300	6503	NALCN	SO:0001583	missense	0			-	HGNC	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.2291G>A	13.37:g.101763479C>T	ENSP00000251127:p.Arg764His	Somatic	0	45	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	10	77.27	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.R764H	ENST00000251127.6	37	c.2291	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010209	0.93346	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	D	0.98450	1.0591	10	0.52906	T	0.07	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	764	Q8IZF0	NALCN_HUMAN	H	764	ENSP00000251127:R764H	ENSP00000251127:R764H	R	-	2	0	NALCN	100561480	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.298000	0.78815	2.615000	0.88500	0.650000	0.86243	CGC	-	NULL		0.552	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	protein_coding	OTTHUMT00000045663.2	C	NM_052867	-		101763479	-1	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101763479	C	T	101763479	3	4	183	1	0	0	0	0	1	0	0	0	10150	768	27	1	3029	1	NALCN	13	101763479	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	1140811	101763479	13406399	42	12788											
DUOX2	50506	genome.wustl.edu	37	chr15	45388168	45388168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaggggtggtactcgGtggtccccagagccaggcag	18	9	0	2			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr15:45388168G>A	ENST00000603300.1	-	30	4140	c.3938C>T	c.(3937-3939)aCc>aTc	p.T1313I	DUOX2_ENST00000389039.6_Missense_Mutation_p.T1313I	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1313	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTGGTACTCGGTGGTCCCCAG	0.632																																																	0								ENSG00000140279						107	92	97					15																	45388168		2198	4298	6496	DUOX2	SO:0001583	missense	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3938C>T	15.37:g.45388168G>A	ENSP00000475084:p.Thr1313Ile	Somatic	0	47	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.T1313I	ENST00000603300.1	37	c.3938	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600411	0.46423	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.69	0.862	0.19056	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.206543	0.50627	D	0.000102	T	0.40247	0.1109	L	0.43923	1.385	0.20307	N	0.999913	B	0.27229	0.172	B	0.31191	0.125	T	0.24512	-1.0158	9	0.23302	T	0.38	-6.7198	15.7786	0.78243	0.0:0.0:0.5161:0.4839	.	1313	Q9NRD8	DUOX2_HUMAN	I	1313	.	ENSP00000373691:T1313I	T	-	2	0	DUOX2	43175460	0.054000	0.20591	0.784000	0.31847	0.995000	0.86356	0.319000	0.19522	-0.173000	0.10761	0.561000	0.74099	ACC	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl		0.632	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		G	NM_014080	-		45388168	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	SNP	0.258	A	A	45388168	G	A	45388168	3	1	183	1	0	0	0	0	1	0	0	0	4803	1261	44	2	728	2	DUOX2	15	45388168	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09		45388168	57143224	43	12789											
SEC14L5	9717	genome.wustl.edu	37	chr16	5061242	5061242	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaagtgcaaacttctctaCtactgtgaggtgctcgcctc	8	14	1	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr16:5061242C>A	ENST00000251170.7	+	15	2127	c.1947C>A	c.(1945-1947)taC>taA	p.Y649*	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	649	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AACTTCTCTACTACTGTGAGG	0.637																																																	0								ENSG00000103184						27	30	29					16																	5061242		1934	4142	6076	SEC14L5	SO:0001587	stop_gained	0			-	HGNC	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1947C>A	16.37:g.5061242C>A	ENSP00000251170:p.Tyr649*	Somatic	0	81	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	60	16.67		Nonsense_Mutation	SNP							pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.Y649*	ENST00000251170.7	37	c.1947	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.716552	0.96830	.	.	ENSG00000103184	ENST00000251170	.	.	.	4.45	3.49	0.39957	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.095	7.7232	0.28744	0.0:0.7443:0.0:0.2557	.	.	.	.	X	649	.	ENSP00000251170:Y649X	Y	+	3	2	SEC14L5	5001243	1.000000	0.71417	0.998000	0.56505	0.169000	0.22640	2.329000	0.43876	1.232000	0.43678	0.561000	0.74099	TAC	-	superfamily_GOLD,pfscan_GOLD		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	protein_coding	OTTHUMT00000434379.1	C		-		5061242	1	no_errors	ENST00000251170	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	5061242	C	A	5061242	4	1	183	1	0	0	0	0	0	1	0	0	13993	576	20	3	2001	3	SEC14L5	16	5061242	Nonsense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		5061242	85293511	44	12790											
NFAT5	10725	genome.wustl.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																																	2	Substitution - coding silent(2)	endometrium(2)						ENSG00000102908																																			NFAT5	SO:0001651	inframe_deletion	0				HGNC	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del	Somatic	0	26	0		0.542364332461213	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Q901in_frame_del	ENST00000354436.2	37	c.2692_2694	CCDS10881.1	16																																																																																			-	NULL		0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	protein_coding	OTTHUMT00000268952.2	CAG	NM_138714			69726422	1	no_errors	ENST00000432919	ensembl	human	known	74_37	in_frame_del	DEL	0.966:0.976:0.988	-	-	69726422	CAG	-	69726420	7	5	183	1	0	1	0	1	0	0	0	0	10362	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-MB-A8JK-01A-11D-A36J-09	64665178	69726420	20628333	45	12791											
FAM92B	339145	genome.wustl.edu	37	chr16	85132846	85132846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccacacacacagtggGctggctgccccttaaccacc	8	19	0	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr16:85132846G>A	ENST00000539556.1	-	9	1015	c.860C>T	c.(859-861)gCc>gTc	p.A287V		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	287										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CACACAGTGGGCTGGCTGCCC	0.527																																																	0								ENSG00000153789						129	104	112					16																	85132846		2198	4300	6498	FAM92B	SO:0001583	missense	0			-	HGNC		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.860C>T	16.37:g.85132846G>A	ENSP00000443411:p.Ala287Val	Somatic	0	54	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP							pfam_FAM92	p.A287V	ENST00000539556.1	37	c.860	CCDS32500.1	16	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909168	0.17833	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.35605	1.3	1.22	0.226	0.15353	.	7.699220	0.00550	N	0.000250	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.26573	-1.0099	10	0.87932	D	0	3.1778	3.4321	0.07432	0.2795:0.0:0.7205:0.0	.	287	Q6ZTR7	FA92B_HUMAN	V	287	ENSP00000443411:A287V	ENSP00000376937:A287V	A	-	2	0	FAM92B	83690347	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.435000	0.21510	0.103000	0.17682	0.491000	0.48974	GCC	-	NULL		0.527	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	protein_coding		G	NM_198491	-		85132846	-1	no_errors	ENST00000539556	ensembl	human	known	74_37	missense	SNP	0.000	A	A	85132846	G	A	85132846	3	1	183	1	0	0	0	0	1	0	0	0	5655	1203	42	2	58	2	FAM92B	16	85132846	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	15406426	85132846	5221907	46	12792											
MYH3	4621	genome.wustl.edu	37	chr17	10541189	10541189	+	Nonsense_Mutation	SNP	C	C	A													caggctcctctgaatttcctCattcttgcccctggcctcac							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:10541189C>A	ENST00000583535.1	-	28	3880	c.3793G>T	c.(3793-3795)Gag>Tag	p.E1265*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1265*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1265					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGAATTTCCTCATTCTTGCCC	0.527																																																	0								ENSG00000109063						78	69	72					17																	10541189		2203	4300	6503	MYH3	SO:0001587	stop_gained	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3793G>T	17.37:g.10541189C>A	ENSP00000464317:p.Glu1265*	Somatic	0	59	0		0.542364332461213	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	Q15492	Nonsense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1265*	ENST00000583535.1	37	c.3793	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.230431	0.99365	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	.	.	.	X	1265	.	ENSP00000226209:E1265X	E	-	1	0	MYH3	10481914	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	7.818000	0.86416	2.665000	0.90641	0.655000	0.94253	GAG	-	pfam_Myosin_tail,superfamily_Prefoldin		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	C	NM_002470	-		10541189	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	10541189	C	A	10541189	4	1	183	1	0	0	0	0	0	1	0	0	10038	835	29	3	2085	3	MYH3	17	10541189	Nonsense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		10541189	70654021	47	12793	193	2									
MYH3	4621	genome.wustl.edu	37	chr17	10541190	10541190	+	Missense_Mutation	SNP	A	A	T													aggctcctctgaatttcctcAttcttgcccctggcctcact							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:10541190A>T	ENST00000583535.1	-	28	3879	c.3792T>A	c.(3790-3792)aaT>aaA	p.N1264K	MYH3_ENST00000226209.7_Missense_Mutation_p.N1264K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1264					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAATTTCCTCATTCTTGCCCC	0.527																																																	0								ENSG00000109063						78	69	72					17																	10541190		2203	4300	6503	MYH3	SO:0001583	missense	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3792T>A	17.37:g.10541190A>T	ENSP00000464317:p.Asn1264Lys	Somatic	0	59	0		0.542364332461213	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	Q15492	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1264K	ENST00000583535.1	37	c.3792	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786336	0.31593	.	.	ENSG00000109063	ENST00000226209	T	0.77358	-1.09	5.36	-8.36	0.00980	Myosin tail (1);	.	.	.	.	T	0.66458	0.2791	M	0.64997	1.995	0.23043	N	0.99838	B	0.17268	0.021	B	0.25987	0.065	T	0.53809	-0.8386	9	0.30078	T	0.28	.	3.9801	0.09492	0.3499:0.1232:0.4004:0.1266	.	1264	P11055	MYH3_HUMAN	K	1264	ENSP00000226209:N1264K	ENSP00000226209:N1264K	N	-	3	2	MYH3	10481915	0.000000	0.05858	0.915000	0.36163	0.834000	0.47266	-1.492000	0.02300	-1.074000	0.03132	-0.290000	0.09829	AAT	-	pfam_Myosin_tail,superfamily_Prefoldin		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	A	NM_002470	-		10541190	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	SNP	0.050	T	T	10541190	A	T	10541190	3	4	183	1	0	0	0	0	1	0	0	0	10038	214	8	5	2086	5	MYH3	17	10541190	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09	1	10541190	70654020	48	12794	193	2									
DNAH9	1770	genome.wustl.edu	37	chr17	11593505	11593505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtatgagccccacccaCggaccaatgtccccctcctg	7	19	0	1	rs141375188	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:11593505C>T	ENST00000262442.4	+	20	4434	c.4366C>T	c.(4366-4368)Cgg>Tgg	p.R1456W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1456W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1456	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)			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)		GCCCCACCCACGGACCAATGT	0.498																																																	0								ENSG00000007174	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	79	78	78		4366	2.4	0	17	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DNAH9	NM_001372.3	101	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	1456/4487	11593505	4,13002	2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	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.4366C>T	17.37:g.11593505C>T	ENSP00000262442:p.Arg1456Trp	Somatic	0	66	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	25	50.98	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1456W	ENST00000262442.4	37	c.4366	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905405	0.33628	2.27E-4	3.49E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.61742	0.08;0.08	5.57	2.37	0.29283	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	D	0.82481	0.5046	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87056	0.2150	10	0.87932	D	0	.	14.7896	0.69830	0.3756:0.6243:0.0:0.0	.	1456	Q9NYC9	DYH9_HUMAN	W	1456;1456;38	ENSP00000262442:R1456W;ENSP00000414874:R1456W	ENSP00000262442:R1456W	R	+	1	2	DNAH9	11534230	0.512000	0.26186	0.011000	0.14972	0.018000	0.09664	1.168000	0.31859	0.263000	0.21812	0.655000	0.94253	CGG	-	pfam_Dynein_heavy_dom-2		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	rs141375188		11593505	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	0.951	T	T	11593505	C	T	11593505	3	4	183	1	0	0	0	0	1	0	0	0	4610	527	19	1	4444	1	DNAH9	17	11593505	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	1052315	11593505	69601705	49	12795											
HDAC5	10014	genome.wustl.edu	37	chr17	42164842	42164842	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcagcaccactctcgccctCctcgtccttaacctggatgc	6	19	2	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:42164842C>A	ENST00000393622.2	-	13	2153	c.1822G>T	c.(1822-1824)Gag>Tag	p.E608*	HDAC5_ENST00000336057.5_Nonsense_Mutation_p.E608*|HDAC5_ENST00000225983.6_Nonsense_Mutation_p.E609*|HDAC5_ENST00000586802.1_Nonsense_Mutation_p.E608*	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	608					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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 kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTCTCGCCCTCCTCGTCCTTA	0.612																																																	0								ENSG00000108840						75	57	63					17																	42164842		2203	4300	6503	HDAC5	SO:0001587	stop_gained	0			-	HGNC	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1822G>T	17.37:g.42164842C>A	ENSP00000377244:p.Glu608*	Somatic	0	26	0		0.542364332461213	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	C9JFV9|O60340|O60528|Q96DY4	Nonsense_Mutation	SNP							pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.E609*	ENST00000393622.2	37	c.1825	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.696020	0.98918	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	.	.	.	4.69	4.69	0.59074	.	0.332441	0.25938	N	0.027331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-5.2287	14.5338	0.67944	0.0:1.0:0.0:0.0	.	.	.	.	X	609;608;608	.	ENSP00000225983:E609X	E	-	1	0	HDAC5	39520368	0.039000	0.19947	0.989000	0.46669	0.953000	0.61014	3.432000	0.52824	2.147000	0.66899	0.561000	0.74099	GAG	-	pirsf_Histone_deAcase_II_euk		0.612	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	protein_coding	OTTHUMT00000457686.1	C	NM_001015053	-		42164842	-1	no_errors	ENST00000225983	ensembl	human	known	74_37	nonsense	SNP	0.594	A	A	42164842	C	A	42164842	4	1	183	1	0	0	0	0	0	1	0	0	7012	864	30	3	1606	3	HDAC5	17	42164842	Nonsense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	30571337	42164842	39030368	50	12796											
DBF4B	80174	genome.wustl.edu	37	chr17	42828395	42828395	+	Frame_Shift_Del	DEL	T	T	-													cccttgcccctgtctcagacTtggatacctttacctgctgc							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:42828395delT	ENST00000315005.3	+	14	1760	c.1622delT	c.(1621-1623)cttfs	p.L541fs	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	541					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTCTCAGACTTGGATACCTT	0.562																																																	0								ENSG00000161692						135	116	123					17																	42828395		2203	4300	6503	DBF4B	SO:0001589	frameshift_variant	0				HGNC	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1622delT	17.37:g.42828395delT	ENSP00000323663:p.Leu541fs	Somatic	0	65	0		0.542364332461213	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	73	23.16	D3DX56|Q8TEX0|Q96B19|Q9H912	Frame_Shift_Del	DEL							pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.G542fs	ENST00000315005.3	37	c.1622	CCDS11485.1	17																																																																																			-	NULL		0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DBF4B	protein_coding	OTTHUMT00000385930.1	T	NM_025104			42828395	1	no_errors	ENST00000315005	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	42828395	T	-	42828395	7	5	183	1	0	1	0	1	0	0	0	0	4251	1609	56	0	1721	0	DBF4B	17	42828395	Frame_Shift_Del	DEL	T	TCGA-MB-A8JK-01A-11D-A36J-09	663553	42828395	38366815	51	12797											
NME1-NME2	4831	genome.wustl.edu	37	chr17	49245607	49245607	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctctccaatgccaggcctCtgaagaacacctgaagcagc	8	15	2	3			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:49245607C>G	ENST00000393193.2	+	6	553	c.476C>G	c.(475-477)tCt>tGt	p.S159C	NME2_ENST00000376392.6_Missense_Mutation_p.S159C|NME2_ENST00000555572.1_Missense_Mutation_p.S184C|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.S44C|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000393198.3_Missense_Mutation_p.S159C|NME1-NME2_ENST00000503064.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.S184C|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.S44C			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2	44					cell adhesion (GO:0007155)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of apoptotic process (GO:0043066)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside triphosphate biosynthetic process (GO:0009142)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|UTP biosynthetic process (GO:0006228)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)|protein histidine kinase activity (GO:0004673)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGCCAGGCCTCTGAAGAACAC	0.517																																					Esophageal Squamous(49;809 1203 4404 15246)												0								ENSG00000243678						109	91	97					17																	49245607		2203	4300	6503	NME1-NME2	SO:0001583	missense	0			-	HGNC	X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052			7850	protein-coding gene	gene with protein product		156491	"non-metastatic cells 2, protein (NM23B) expressed in"			1988104, 19852809	Standard	NM_001018137		Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000393193.2:c.476C>G	17.37:g.49245607C>G	ENSP00000376889:p.Ser159Cys	Somatic	0	66	0		0.542364332461213	3170	19.91	790	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	93	13.89	A8MWA3|Q1WM23|Q6LCT6	Missense_Mutation	SNP							pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.S184C	ENST00000393193.2	37	c.551	CCDS32682.1	17	.	.	.	.	.	.	.	.	.	.	c	21.4	4.147123	0.77888	.	.	ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000243678;ENSG00000243678	ENST00000376392;ENST00000555572;ENST00000514264;ENST00000513177;ENST00000512737;ENST00000503064;ENST00000393190;ENST00000393193;ENST00000393198	T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000002	D	0.94473	0.8221	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.70487	0.874;0.969	D	0.97253	0.9899	10	0.87932	D	0	-12.4231	17.8748	0.88822	0.0:1.0:0.0:0.0	.	44;184	P22392;Q32Q12	NDKB_HUMAN;.	C	159;184;44;44;44;44;44;159;184	ENSP00000365572:S159C;ENSP00000451932:S184C;ENSP00000426976:S44C;ENSP00000425581:S44C;ENSP00000421064:S44C;ENSP00000426901:S44C;ENSP00000376886:S44C;ENSP00000376889:S159C	ENSP00000365572:S44C	S	+	2	0	NME2;NME1-NME2	46600606	0.991000	0.36638	0.991000	0.47740	0.969000	0.65631	3.380000	0.52448	2.374000	0.81015	0.651000	0.88453	TCT	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.517	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	NME1-NME2	protein_coding	OTTHUMT00000268664.2	C	NM_002512	-		49245607	1	no_errors	ENST00000608447	ensembl	human	known	74_37	missense	SNP	0.999	G	G	49245607	C	G	49245607	3	3	183	1	0	0	0	0	1	0	0	0	10492	913	32	4	494	4	NME1-NME2	17	49245607	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	6417212	49245607	31949603	52	12798											
ABCA6	23460	genome.wustl.edu	37	chr17	67079036	67079036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgccctgcagcctgtgGgaaaagcttcagaatctcag	10	12	2	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:67079036G>T	ENST00000284425.2	-	36	4768	c.4594C>A	c.(4594-4596)Cca>Aca	p.P1532T	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1532					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAGCCTGTGGGAAAAGCTTC	0.438																																																	0								ENSG00000154262						211	213	212					17																	67079036		2203	4300	6503	ABCA6	SO:0001583	missense	0			-	HGNC	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4594C>A	17.37:g.67079036G>T	ENSP00000284425:p.Pro1532Thr	Somatic	0	59	0		0.542364332461213	55	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1532T	ENST00000284425.2	37	c.4594	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330096	0.81690	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86627	-2.15	5.03	5.03	0.67393	.	0.000000	0.49305	D	0.000153	D	0.95114	0.8417	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95842	0.8867	10	0.87932	D	0	.	17.8989	0.88897	0.0:0.0:1.0:0.0	.	1532	Q8N139	ABCA6_HUMAN	T	1532;392	ENSP00000284425:P1532T	ENSP00000284425:P1532T	P	-	1	0	ABCA6	64590631	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.665000	0.91144	2.787000	0.95880	0.650000	0.86243	CCA	-	NULL		0.438	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	protein_coding	OTTHUMT00000450463.1	G	NM_080284	-		67079036	-1	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67079036	G	T	67079036	3	4	183	1	0	0	0	0	1	0	0	0	36	1232	43	3	275	3	ABCA6	17	67079036	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	17833429	67079036	14116174	53	12799											
SLC16A5	9121	genome.wustl.edu	37	chr17	73094219	73094219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagcctgggcatggtgGccagctccttctctcacaac	11	15	2	0			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:73094219G>A	ENST00000450736.2	+	3	701	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A96T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A96T|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A136T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	96					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGCATGGTGGCCAGCTCCTT	0.587																																																	0								ENSG00000170190						92	95	94					17																	73094219		2203	4299	6502	SLC16A5	SO:0001583	missense	0			-	HGNC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.286G>A	17.37:g.73094219G>A	ENSP00000390564:p.Ala96Thr	Somatic	0	33	0		0.542364332461213	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4E288	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.A96T	ENST00000450736.2	37	c.286	CCDS11713.1	17	.	.	.	.	.	.	.	.	.	.	g	11.20	1.567494	0.28003	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.40756	1.02;1.02;1.02	4.59	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.218706	0.47455	N	0.000232	T	0.26340	0.0643	L	0.41124	1.26	0.21967	N	0.999445	B;P	0.38504	0.207;0.634	B;B	0.33121	0.101;0.158	T	0.11867	-1.0570	10	0.31617	T	0.26	.	4.4564	0.11645	0.2081:0.0:0.6031:0.1887	.	136;96	B4E288;O15375	.;MOT6_HUMAN	T	96;96;136	ENSP00000330141:A96T;ENSP00000390564:A96T;ENSP00000440212:A136T	ENSP00000330141:A96T	A	+	1	0	SLC16A5	70605814	1.000000	0.71417	0.996000	0.52242	0.590000	0.36582	1.850000	0.39328	0.853000	0.35312	0.457000	0.33378	GCC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.587	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	protein_coding	OTTHUMT00000445547.1	G	NM_004695	-		73094219	1	no_errors	ENST00000329783	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73094219	G	A	73094219	3	1	183	1	0	0	0	0	1	0	0	0	14419	1203	42	2	292	2	SLC16A5	17	73094219	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	6015183	73094219	8100991	54	12800											
MYBPC2	4606	genome.wustl.edu	37	chr19	50962526	50962526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtgcagatcgagaaCatgaaggacaccgccaccat	11	12	0	4			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr19:50962526C>G	ENST00000357701.5	+	23	2805	c.2754C>G	c.(2752-2754)aaC>aaG	p.N918K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	918	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGATCGAGAACATGAAGGACA	0.701																																																	0								ENSG00000086967						24	28	27					19																	50962526		2099	4218	6317	MYBPC2	SO:0001583	missense	0			-	HGNC		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2754C>G	19.37:g.50962526C>G	ENSP00000350332:p.Asn918Lys	Somatic	0	51	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A1L4G9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N918K	ENST00000357701.5	37	c.2754	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191342	0.58017	.	.	ENSG00000086967	ENST00000357701	T	0.66460	-0.21	3.74	3.74	0.42951	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.37530	U	0.002055	T	0.59595	0.2205	M	0.71920	2.185	0.41445	D	0.987942	B	0.19200	0.034	B	0.27887	0.084	T	0.51903	-0.8646	10	0.05436	T	0.98	.	9.849	0.41046	0.0:0.891:0.0:0.109	.	918	Q14324	MYPC2_HUMAN	K	918	ENSP00000350332:N918K	ENSP00000350332:N918K	N	+	3	2	MYBPC2	55654338	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.718000	0.47236	2.026000	0.59711	0.401000	0.26515	AAC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.701	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	protein_coding	OTTHUMT00000464751.1	C	NM_004533	-		50962526	1	no_errors	ENST00000357701	ensembl	human	known	74_37	missense	SNP	1.000	G	G	50962526	C	G	50962526	3	3	183	1	0	0	0	0	1	0	0	0	10014	477	17	4	2844	4	MYBPC2	19	50962526	Missense_Mutation	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09		50962526	8166457	55	12801											
PLCB4	5332	genome.wustl.edu	37	chr20	9404506	9404506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagccggatatcgacacAtttcccttcgaaatgaggga	9	11	0	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr20:9404506A>C	ENST00000378493.1	+	24	2410	c.2395A>C	c.(2395-2397)Att>Ctt	p.I799L	PLCB4_ENST00000334005.3_Missense_Mutation_p.I799L|PLCB4_ENST00000414679.2_Missense_Mutation_p.I811L|PLCB4_ENST00000378473.3_Missense_Mutation_p.I811L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.I799L|PLCB4_ENST00000278655.4_Missense_Mutation_p.I799L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	799					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATATCGACACATTTCCCTTCG	0.428																																																	0								ENSG00000101333						95	81	86					20																	9404506		2203	4300	6503	PLCB4	SO:0001583	missense	0			-	HGNC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2395A>C	20.37:g.9404506A>C	ENSP00000367754:p.Ile799Leu	Somatic	0	60	0		0.542364332461213	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	30.91	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I799L	ENST00000378493.1	37	c.2395	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790583	0.90367	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.72	5.72	0.89469	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047016	0.85682	D	0.000000	T	0.31136	0.0787	L	0.52011	1.625	0.80722	D	1	P;P;B;P	0.44309	0.832;0.701;0.199;0.505	P;P;P;P	0.61477	0.889;0.659;0.572;0.565	T	0.00514	-1.1695	10	0.42905	T	0.14	.	16.0205	0.80486	1.0:0.0:0.0:0.0	.	811;646;799;799	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	799;811;799;799;799;647	ENSP00000334105:I799L;ENSP00000367734:I811L;ENSP00000278655:I799L;ENSP00000367754:I799L;ENSP00000367762:I799L;ENSP00000390616:I647L	ENSP00000278655:I799L	I	+	1	0	PLCB4	9352506	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.085000	0.94083	2.194000	0.70268	0.533000	0.62120	ATT	-	pirsf_PLC-beta,superfamily_C2_dom,smart_C2_dom		0.428	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	A		-		9404506	1	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	SNP	1.000	C	C	9404506	A	C	9404506	3	2	183	1	0	0	0	0	1	0	0	0	12032	217	8	5	2529	5	PLCB4	20	9404506	Missense_Mutation	SNP	A	TCGA-MB-A8JK-01A-11D-A36J-09		9404506	53621014	56	12802											
CST11	140880	genome.wustl.edu	37	chr20	23433382	23433382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttccttgcttggtaggGgagggccatcagagtcaata	12	8	3	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr20:23433382G>T	ENST00000377009.3	-	1	100	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	CST11_ENST00000377007.3_Missense_Mutation_p.P23T	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	23					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCTTGGTAGGGGAGGGCCATC	0.512																																																	0								ENSG00000125831						98	85	89					20																	23433382		2203	4300	6503	CST11	SO:0001583	missense	0			-	HGNC	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.67C>A	20.37:g.23433382G>T	ENSP00000366208:p.Pro23Thr	Somatic	0	36	0		0.542364332461213	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP							pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.P23T	ENST00000377009.3	37	c.67	CCDS13155.1	20	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.043002	0.01997	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.16897	2.88;2.31	3.86	0.273	0.15650	.	1.070420	0.07156	N	0.849936	T	0.04092	0.0114	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38672	-0.9650	10	0.02654	T	1	0.0122	0.9871	0.01448	0.2022:0.1079:0.1882:0.5018	.	23;23	Q9H112-2;Q9H112	.;CST11_HUMAN	T	23	ENSP00000366208:P23T;ENSP00000366206:P23T	ENSP00000366206:P23T	P	-	1	0	CST11	23381382	0.029000	0.19370	0.002000	0.10522	0.438000	0.31896	0.089000	0.15002	0.009000	0.14813	-0.265000	0.10407	CCC	-	NULL		0.512	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST11	protein_coding	OTTHUMT00000078314.1	G	NM_130794	-		23433382	-1	no_errors	ENST00000377009	ensembl	human	known	74_37	missense	SNP	0.002	T	T	23433382	G	T	23433382	3	4	183	1	0	0	0	0	1	0	0	0	3973	1232	43	3	361	3	CST11	20	23433382	Missense_Mutation	SNP	G	TCGA-MB-A8JK-01A-11D-A36J-09	14028876	23433382	39592138	57	12803											
SH3BP1	23616	genome.wustl.edu	37	chr22	38046665	38046670	+	In_Frame_Del	DEL	CCGGCT	CCGGCT	-													tgcccaccccagccaccaccCcggctccggctccggctcca					rs565412693|rs929038	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	CCGGCT	CCGGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr22:38046665_38046670delCCGGCT	ENST00000357436.4	+	16	1844_1849	c.1531_1536delCCGGCT	c.(1531-1536)ccggctdel	p.PA523del	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_In_Frame_Del_p.PA459del	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	523					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					agccaccaccccggctccggctccgg	0.641																																																	0								ENSG00000100092			10,4250		2,6,2122						0.9	0			34	9,8243		0,9,4117	no	coding	SH3BP1	NM_018957.3		2,15,6239	A1A1,A1R,RR		0.1091,0.2347,0.1519				19,12493				SH3BP1	SO:0001651	inframe_deletion	0				HGNC		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1531_1536delCCGGCT	22.37:g.38046671_38046676delCCGGCT	ENSP00000350018:p.Pro523_Ala524del	Somatic					0.542364332461213	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	In_Frame_Del	DEL							pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.AP514in_frame_del	ENST00000357436.4	37	c.1531_1536	CCDS13952.2	22																																																																																			-	NULL		0.641	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	protein_coding	OTTHUMT00000075884.4	CCGGCT	NM_018957			38046670	1	no_errors	ENST00000357436	ensembl	human	known	74_37	in_frame_del	DEL	0.131:0.094:0.000:0.000:0.001:0.005	-	-	38046670	CCGGCT	-	38046665	7	5	183	1	0	1	0	1	0	0	0	0	14252	623	22	0	1593	0	SH3BP1	22	38046665	In_Frame_Del	DEL	CCGGCT	TCGA-MB-A8JK-01A-11D-A36J-09		38046665	13257901	58	12804											
SCUBE1	80274	genome.wustl.edu	37	chr22	43600071	43600071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggaccgtgggaacaTctccttggattcctgggctg	14	9	1	1			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr22:43600071T>C	ENST00000360835.4	-	22	3025	c.2899A>G	c.(2899-2901)Atg>Gtg	p.M967V		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	967					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTGGGAACATCTCCTTGGAT	0.577																																																	0								ENSG00000159307						168	151	157					22																	43600071		2203	4300	6503	SCUBE1	SO:0001583	missense	0			-	HGNC		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2899A>G	22.37:g.43600071T>C	ENSP00000354080:p.Met967Val	Somatic	0	71	0		0.542364332461213	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	48	23.81	Q5R336	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.M967V	ENST00000360835.4	37	c.2899	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149901	0.78001	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.85411	-1.98	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	N	0.24115	0.695	0.80722	D	1	P	0.46912	0.886	P	0.47251	0.542	T	0.81258	-0.1014	10	0.45353	T	0.12	.	13.6064	0.62050	0.0:0.0:0.0:1.0	.	967	Q8IWY4	SCUB1_HUMAN	V	967;597	ENSP00000354080:M967V	ENSP00000354080:M967V	M	-	1	0	SCUBE1	41930015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.918000	0.69996	1.872000	0.54250	0.482000	0.46254	ATG	-	NULL		0.577	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	protein_coding	OTTHUMT00000319582.3	T	NM_173050	-		43600071	-1	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43600071	T	C	43600071	3	2	183	1	0	0	0	0	1	0	0	0	13952	1435	50	5	71	5	SCUBE1	22	43600071	Missense_Mutation	SNP	T	TCGA-MB-A8JK-01A-11D-A36J-09	5553406	43600071	7704495	59	12805											
HUWE1	10075	genome.wustl.edu	37	chrX	53589091	53589093	+	In_Frame_Del	DEL	TCC	TCC	-													cctgatcatcttcctcatctTcctcctcctcctcctcttca							TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chrX:53589091_53589093delTCC	ENST00000342160.3	-	53	7774_7776	c.7317_7319delGGA	c.(7315-7320)gaggaa>gaa	p.2439_2440EE>E	HUWE1_ENST00000262854.6_In_Frame_Del_p.2439_2440EE>E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2439	Asp-rich.|Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ttcctcatcttcctcctcctcct	0.532														3	0.000794702	0	0.0029	3775	,	,		17096	0.001		0	False		,,,				2504	0																0								ENSG00000086758																																			HUWE1	SO:0001651	inframe_deletion	0				HGNC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7317_7319delGGA	X.37:g.53589100_53589102delTCC	ENSP00000340648:p.Glu2440del	Somatic	0	27	0		0.542364332461213	74	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL							pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2440in_frame_del	ENST00000342160.3	37	c.7319_7317	CCDS35301.1	X																																																																																			-	NULL		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	TCC	XM_497119			53589093	-1	no_errors	ENST00000262854	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	53589093	TCC	-	53589091	7	5	183	1	0	1	0	1	0	0	0	0	7463	1783	62	0	5929	0	HUWE1	23	53589091	In_Frame_Del	DEL	TCC	TCGA-MB-A8JK-01A-11D-A36J-09		53589091	101681469	60	12806											
CUL4B	8450	genome.wustl.edu	37	chrX	119670866	119670866	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acagttaactcaatatttccCggaacattctgattctgcat	5	10	3	1	rs185389157		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chrX:119670866C>G	ENST00000404115.3	-	17	2417	c.2016G>C	c.(2014-2016)ccG>ccC	p.P672P	CUL4B_ENST00000336592.6_Silent_p.P659P|CUL4B_ENST00000371322.5_Silent_p.P654P	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	672					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAATATTTCCCGGAACATTCT	0.348																																																	0								ENSG00000158290						107	95	99					X																	119670866		2203	4300	6503	CUL4B	SO:0001819	synonymous_variant	0			-	HGNC	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2016G>C	X.37:g.119670866C>G		Somatic	0	31	0		0.542364332461213	15	82.14	69	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	6	84.21	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.P672	ENST00000404115.3	37	c.2016	CCDS35379.1	X																																																																																			-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	protein_coding	OTTHUMT00000058103.1	C	NM_003588	-		119670866	-1	no_errors	ENST00000404115	ensembl	human	known	74_37	silent	SNP	1.000	G	G	119670866	C	G	119670866	2	3	183	1	0	0	0	0	0	0	0	1	4060	639	23	4		4	CUL4B	23	119670866	Silent	SNP	C	TCGA-MB-A8JK-01A-11D-A36J-09	66081775	119670866	35599694	61	12807											
PRKCZ	5590	genome.wustl.edu	37	chr1	2077516	2077516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacgacaagaacgaggaCgccgaccttccttccgagga	12	12	0	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:2077516C>T	ENST00000400921.2	+	4	737	c.54C>T	c.(52-54)gaC>gaT	p.D18D	PRKCZ_ENST00000400920.1_Silent_p.D18D|PRKCZ_ENST00000479263.1_3'UTR|RP5-892K4.1_ENST00000606533.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	201	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D201D(2)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	AGAACGAGGACGCCGACCTTC	0.582																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000067606						99	77	84					1																	2077516		2203	4300	6503	PRKCZ	SO:0001819	synonymous_variant	0			-	HGNC	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.54C>T	1.37:g.2077516C>T		Somatic	0	35	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.D201	ENST00000400921.2	37	c.603	CCDS41229.1	1																																																																																			-	pirsf_PKC_zeta		0.582	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	protein_coding	OTTHUMT00000098533.3	C	NM_002744	-		2077516	1	no_errors	ENST00000378567	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2077516	C	T	2077516	2	4	184	1	0	0	0	0	0	0	0	1	12522	535	19	1		1	PRKCZ	1	2077516	Silent	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		2077516	247173105	1	12808											
SMPDL3B	27293	genome.wustl.edu	37	chr1	28285146	28285146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgctggcgaccagagcacaCtgcagcgctactacgtctat	10	14	1	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:28285146C>A	ENST00000373894.3	+	8	1356	c.1165C>A	c.(1165-1167)Ctg>Atg	p.L389M	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.L341M|XKR8_ENST00000373884.5_5'Flank|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	389					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CCAGAGCACACTGCAGCGCTA	0.632																																																	0								ENSG00000130768						87	77	81					1																	28285146		2203	4300	6503	SMPDL3B	SO:0001583	missense	0			-	HGNC	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1165C>A	1.37:g.28285146C>A	ENSP00000363001:p.Leu389Met	Somatic	0	20	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	10	54.55	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP							pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.L389M	ENST00000373894.3	37	c.1165	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885145	0.33255	.	.	ENSG00000130768	ENST00000373894;ENST00000549094;ENST00000412515	D;D	0.89415	-2.51;-2.51	5.09	2.19	0.27852	.	0.158718	0.44097	D	0.000494	D	0.93910	0.8051	M	0.88105	2.93	0.30424	N	0.777829	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.959	D	0.90285	0.4318	10	0.45353	T	0.12	-5.1793	10.1345	0.42697	0.0:0.7787:0.0:0.2213	.	341;389	F8VWW8;Q92485	.;ASM3B_HUMAN	M	389;341;315	ENSP00000363001:L389M;ENSP00000449450:L341M	ENSP00000363001:L389M	L	+	1	2	SMPDL3B	28157733	0.115000	0.22152	0.018000	0.16275	0.001000	0.01503	0.705000	0.25675	0.269000	0.21961	-0.258000	0.10820	CTG	-	pirsf_ASM-like_Pdiesterase_prd		0.632	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	protein_coding	OTTHUMT00000011170.1	C	NM_014474	-		28285146	1	no_errors	ENST00000373894	ensembl	human	known	74_37	missense	SNP	0.782	A	A	28285146	C	A	28285146	3	1	184	1	0	0	0	0	1	0	0	0	14817	564	20	3	1312	3	SMPDL3B	1	28285146	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	26207630	28285146	220965475	2	12809											
RPL5	6125	genome.wustl.edu	37	chr1	93300445	93300445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattatgctgcagcatattGtactggcctgctgctggccc	10	11	0	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:93300445G>T	ENST00000370321.3	+	4	389	c.299G>T	c.(298-300)tGt>tTt	p.C100F	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	100					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCAGCATATTGTACTGGCCTG	0.463																																																	0								ENSG00000122406						106	106	106					1																	93300445		2203	4300	6503	RPL5	SO:0001583	missense	0			-	HGNC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.299G>T	1.37:g.93300445G>T	ENSP00000359345:p.Cys100Phe	Somatic	0	49	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.57	Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP							pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.C100F	ENST00000370321.3	37	c.299	CCDS741.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953544	0.73902	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.76968	-1.06	5.14	4.21	0.49690	.	0.144330	0.64402	D	0.000004	T	0.82222	0.4990	H	0.94345	3.525	0.80722	D	1	P	0.38642	0.641	B	0.43386	0.418	D	0.86358	0.1715	10	0.87932	D	0	.	15.0216	0.71635	0.0:0.0:0.8567:0.1433	.	100	P46777	RL5_HUMAN	F	50;100;50	ENSP00000359345:C100F	ENSP00000359338:C50F	C	+	2	0	RPL5	93073033	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.720000	0.84759	1.151000	0.42436	0.655000	0.94253	TGT	-	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc		0.463	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	protein_coding	OTTHUMT00000030058.2	G	NM_000969	-		93300445	1	no_errors	ENST00000370321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93300445	G	T	93300445	3	4	184	1	0	0	0	0	1	0	0	0	13605	1377	48	3	313	3	RPL5	1	93300445	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	65015299	93300445	155950176	3	12810											
HRNR	388697	genome.wustl.edu	37	chr1	152185905	152185905	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtgctagatccctcctggtCaaaggttgatgactgtcctg	11	10	1	3			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:152185905C>G	ENST00000368801.2	-	3	8275	c.8200G>C	c.(8200-8202)Gac>Cac	p.D2734H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2734					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCCTGGTCAAAGGTTGAT	0.557																																																	0								ENSG00000197915						29	18	22					1																	152185905		2112	4092	6204	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8200G>C	1.37:g.152185905C>G	ENSP00000357791:p.Asp2734His	Somatic	0	11	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.D2734H	ENST00000368801.2	37	c.8200	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	3.228	-0.157972	0.06544	.	.	ENSG00000197915	ENST00000368801	T	0.01767	4.65	3.02	-1.42	0.08913	.	.	.	.	.	T	0.00328	0.0010	N	0.11427	0.14	0.09310	N	1	P	0.36944	0.574	B	0.28784	0.094	T	0.45352	-0.9267	9	0.41790	T	0.15	.	6.3475	0.21357	0.0:0.4651:0.0:0.5349	.	2734	Q86YZ3	HORN_HUMAN	H	2734	ENSP00000357791:D2734H	ENSP00000357791:D2734H	D	-	1	0	HRNR	150452529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.848000	0.04326	-0.163000	0.10946	0.407000	0.27541	GAC	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152185905	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	G	G	152185905	C	G	152185905	3	3	184	1	0	0	0	0	1	0	0	0	7361	826	29	4	356	4	HRNR	1	152185905	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	58885460	152185905	97064716	4	12811			1	89		3	3	2592	C		7.389716e-06
HRNR	388697	genome.wustl.edu	37	chr1	152186100	152186100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagacccatgttggcCgtggctggaggagtgcccca	15	12	0	2	rs142956706	byFrequency	TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:152186100C>T	ENST00000368801.2	-	3	8080	c.8005G>A	c.(8005-8007)Ggc>Agc	p.G2669S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2669					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGTGGCTGGAG	0.627													C|||	20	0.00399361	0.0083	0.0043	5008	,	,		22763	0.001		0.004	False		,,,				2504	0.001																0								ENSG00000197915						6	7	7					1																	152186100		1222	2624	3846	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8005G>A	1.37:g.152186100C>T	ENSP00000357791:p.Gly2669Ser	Somatic	0	73	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	42	40.85	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2669S	ENST00000368801.2	37	c.8005	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850337	0.17034	.	.	ENSG00000197915	ENST00000368801	T	0.01272	5.07	3.32	-4.18	0.03846	.	.	.	.	.	T	0.00300	0.0009	N	0.11201	0.11	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.34551	-0.9824	9	0.26408	T	0.33	.	9.3155	0.37932	0.0:0.4731:0.0:0.5269	.	2669	Q86YZ3	HORN_HUMAN	S	2669	ENSP00000357791:G2669S	ENSP00000357791:G2669S	G	-	1	0	HRNR	150452724	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.529000	0.02223	-1.050000	0.03230	-1.301000	0.01330	GGC	-	NULL		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	rs142956706		152186100	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152186100	C	T	152186100	3	4	184	1	0	0	0	0	1	0	0	0	7361	652	23	1	551	1	HRNR	1	152186100	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	195	152186100	97064521	5	12812			1	89		3	3	2592	C		7.389716e-06
HRNR	388697	genome.wustl.edu	37	chr1	152188496	152188496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagactcatggtgaccaaatCcagaagactgacctgagcca	9	11	1	6			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:152188496C>T	ENST00000368801.2	-	3	5684	c.5609G>A	c.(5608-5610)gGa>gAa	p.G1870E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1870					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCAAATCCAGAAGACTG	0.577																																																	0								ENSG00000197915						502	793	695					1																	152188496		2171	4298	6469	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5609G>A	1.37:g.152188496C>T	ENSP00000357791:p.Gly1870Glu	Somatic	1	589	0.17		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	588	9.54	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G1870E	ENST00000368801.2	37	c.5609	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	6.780	0.512944	0.12944	.	.	ENSG00000197915	ENST00000368801	T	0.06294	3.32	3.93	1.94	0.25998	.	.	.	.	.	T	0.02119	0.0066	M	0.62723	1.935	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.43130	-0.9410	9	0.17832	T	0.49	.	10.1414	0.42738	0.0:0.5832:0.4168:0.0	.	1870	Q86YZ3	HORN_HUMAN	E	1870	ENSP00000357791:G1870E	ENSP00000357791:G1870E	G	-	2	0	HRNR	150455120	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.284000	0.18864	0.392000	0.25172	0.558000	0.71614	GGA	-	NULL		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152188496	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.001	T	T	152188496	C	T	152188496	3	4	184	1	0	0	0	0	1	0	0	0	7361	855	30	2	2947	2	HRNR	1	152188496	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	2396	152188496	97062125	6	12813			1	89		3	3	2592	C		7.389716e-06
FLG	2312	genome.wustl.edu	37	chr1	152280704	152280704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccagtgagtgtctagAgctgtcggcccaagaggaag	14	11	1	3			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:152280704A>G	ENST00000368799.1	-	3	6693	c.6658T>C	c.(6658-6660)Tct>Cct	p.S2220P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2220	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)			GAGTGTCTAGAGCTGTCGGCC	0.552									Ichthyosis																																								0								ENSG00000143631						301	283	289					1																	152280704		2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.6658T>C	1.37:g.152280704A>G	ENSP00000357789:p.Ser2220Pro	Somatic	0	107	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	150	8.54	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2220P	ENST00000368799.1	37	c.6658	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	a	4.499	0.092541	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.09163	3.01	1.91	-1.3	0.09259	.	.	.	.	.	T	0.04048	0.0113	M	0.83312	2.635	0.09310	N	1	P	0.49185	0.92	B	0.36464	0.225	T	0.24905	-1.0147	9	0.48119	T	0.1	.	3.0119	0.06047	0.3244:0.4652:0.0:0.2104	.	2220	P20930	FILA_HUMAN	P	2220	ENSP00000357789:S2220P	ENSP00000357789:S2220P	S	-	1	0	FLG	150547328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.494000	0.22467	-0.272000	0.09259	0.352000	0.21897	TCT	-	pfam_Filaggrin		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	A	NM_002016	-		152280704	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	G	G	152280704	A	G	152280704	3	3	184	1	0	0	0	0	1	0	0	0	5924	304	11	5	5531	5	FLG	1	152280704	Missense_Mutation	SNP	A	TCGA-MB-A8JL-01A-11D-A36J-09	92208	152280704	96969917	7	12814											
SMG5	23381	genome.wustl.edu	37	chr1	156231177	156231177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcagcaacacagacaggCggttccacagactttgagag	11	10	1	3	rs200255563|rs147273481	byFrequency	TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:156231177C>A	ENST00000361813.5	-	14	2198	c.2054G>T	c.(2053-2055)cGc>cTc	p.R685L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	685					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CACAGACAGGCGGTTCCACAG	0.552																																																	0								ENSG00000198952						85	80	82					1																	156231177		2203	4300	6503	SMG5	SO:0001583	missense	0			-	HGNC	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2054G>T	1.37:g.156231177C>A	ENSP00000355261:p.Arg685Leu	Somatic	0	52	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	38	47.37	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP							pfam_EST1,smart_PIN_dom	p.R685L	ENST00000361813.5	37	c.2054	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.215287	0.95104	.	.	ENSG00000198952	ENST00000361813	T	0.24538	1.85	5.82	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.05818	-1.0862	10	0.66056	D	0.02	-16.5894	13.0876	0.59151	0.0:0.9224:0.0:0.0776	.	685	Q9UPR3	SMG5_HUMAN	L	685	ENSP00000355261:R685L	ENSP00000355261:R685L	R	-	2	0	SMG5	154497801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.010000	0.70753	2.757000	0.94681	0.561000	0.74099	CGC	-	NULL		0.552	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	protein_coding	OTTHUMT00000046308.1	C	NM_015327	-		156231177	-1	no_errors	ENST00000361813	ensembl	human	known	74_37	missense	SNP	1.000	A	A	156231177	C	A	156231177	3	1	184	1	0	0	0	0	1	0	0	0	14804	768	27	3	1032	3	SMG5	1	156231177	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	3950473	156231177	93019444	8	12815											
GLT25D2	23127	genome.wustl.edu	37	chr1	183933060	183933060	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttcaatctgcacatggatGaggttctcgatgtcttcctg	10	10	4	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr1:183933060G>T	ENST00000361927.4	-	6	1298	c.927C>A	c.(925-927)ctC>ctA	p.L309L	COLGALT2_ENST00000546159.1_Silent_p.L309L|COLGALT2_ENST00000367520.3_Silent_p.L46L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	309					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GCACATGGATGAGGTTCTCGA	0.552																																																	0								ENSG00000198756						184	131	149					1																	183933060		2203	4300	6503	COLGALT2	SO:0001819	synonymous_variant	0			-	HGNC	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.927C>A	1.37:g.183933060G>T		Somatic	0	42	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	O60327|Q9BZR0	Silent	SNP							pfam_Glyco_trans_25	p.L309	ENST00000361927.4	37	c.927	CCDS1360.1	1																																																																																			-	NULL		0.552	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	protein_coding	OTTHUMT00000086128.1	G	NM_015101	-		183933060	-1	no_errors	ENST00000361927	ensembl	human	known	74_37	silent	SNP	0.998	T	T	183933060	G	T	183933060	2	4	184	1	0	0	0	0	0	0	0	1	6469	1277	45	3		3	GLT25D2	1	183933060	Silent	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	27701883	183933060	65317561	9	12816											
ADI1	55256	genome.wustl.edu	37	chr2	3502846	3502846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacagccgcatggccttcGtgtagttctggaaaacagac	10	11	1	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr2:3502846G>A	ENST00000327435.6	-	4	676	c.428C>T	c.(427-429)aCg>aTg	p.T143M	ADI1_ENST00000382093.5_Missense_Mutation_p.T137M|RP11-1293J14.1_ENST00000607415.1_lincRNA	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CATGGCCTTCGTGTAGTTCTG	0.478																																																	0								ENSG00000182551						43	43	43					2																	3502846		2203	4300	6503	ADI1	SO:0001583	missense	0			-	HGNC		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.428C>T	2.37:g.3502846G>A	ENSP00000333666:p.Thr143Met	Somatic	0	58	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	47	53.92		Missense_Mutation	SNP							pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin	p.T143M	ENST00000327435.6	37	c.428	CCDS1653.1	2	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401983	0.25291	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.59	3.35	0.38373	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.292715	0.38326	N	0.001723	T	0.39145	0.1067	L	0.47716	1.5	0.22762	N	0.998761	B	0.17038	0.02	B	0.20184	0.028	T	0.38243	-0.9670	9	0.66056	D	0.02	-25.4666	8.136	0.31054	0.8873:0.0:0.1127:0.0	.	143	Q9BV57	MTND_HUMAN	M	143;137	.	ENSP00000333666:T143M	T	-	2	0	ADI1	3481853	0.991000	0.36638	0.884000	0.34674	0.136000	0.21042	4.048000	0.57390	0.795000	0.33922	-0.345000	0.07892	ACG	-	pfam_Acireductn_dOase_family,pfam_AraC-bd,superfamily_RmlC_Cupin		0.478	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADI1	protein_coding	OTTHUMT00000231914.6	G	NM_018269	-		3502846	-1	no_errors	ENST00000327435	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3502846	G	A	3502846	3	1	184	1	0	0	0	0	1	0	0	0	315	1145	40	1	115	1	ADI1	2	3502846	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		3502846	239696527	10	12817											
GORASP2	26003	genome.wustl.edu	37	chr2	171811195	171811195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatatggttatttgcatcGaatacctacacgcccatttg	8	9	0	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr2:171811195G>A	ENST00000234160.4	+	6	1417	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	GORASP2_ENST00000452526.2_Missense_Mutation_p.R213Q|GORASP2_ENST00000493692.1_Intron	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	201					mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TATTTGCATCGAATACCTACA	0.368																																																	0								ENSG00000115806						113	107	109					2																	171811195		2203	4300	6503	GORASP2	SO:0001583	missense	0			-	HGNC		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"golgi reassembly stacking protein 2, 55 kDa"			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.602G>A	2.37:g.171811195G>A	ENSP00000234160:p.Arg201Gln	Somatic	0	57	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	45	45.12	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP							pfam_GRASP55/65_PDZ,superfamily_PDZ	p.R213Q	ENST00000234160.4	37	c.638	CCDS33325.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.794651	0.96952	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.62941	0.06;-0.01	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;0.977;1.0	D;P;D	0.87578	0.991;0.888;0.998	D	0.87784	0.2614	10	0.62326	D	0.03	-7.752	18.333	0.90277	0.0:0.0:1.0:0.0	.	157;213;201	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	Q	201;213	ENSP00000234160:R201Q;ENSP00000410208:R213Q	ENSP00000234160:R201Q	R	+	2	0	GORASP2	171519441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.572000	0.98179	2.762000	0.94881	0.551000	0.68910	CGA	-	pfam_GRASP55/65_PDZ		0.368	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP2	protein_coding	OTTHUMT00000333719.2	G		-		171811195	1	no_errors	ENST00000452526	ensembl	human	known	74_37	missense	SNP	1.000	A	A	171811195	G	A	171811195	3	1	184	1	0	0	0	0	1	0	0	0	6578	1058	37	1	624	1	GORASP2	2	171811195	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	168308349	171811195	71388178	11	12818											
IKZF2	22807	genome.wustl.edu	37	chr2	213914541	213914541	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagagtgtaactttatgtgtCtcagaaggttgcccttctga	10	8	2	3			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr2:213914541C>A	ENST00000434687.1	-	6	779	c.470G>T	c.(469-471)aGa>aTa	p.R157I	IKZF2_ENST00000451136.2_Missense_Mutation_p.R131I|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.R163I|IKZF2_ENST00000421754.2_Missense_Mutation_p.R131I|IKZF2_ENST00000413091.3_Missense_Mutation_p.R157I|IKZF2_ENST00000457361.1_Missense_Mutation_p.R157I|IKZF2_ENST00000374319.4_Missense_Mutation_p.R131I			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	157					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)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTTTATGTGTCTCAGAAGGTT	0.493																																																	0								ENSG00000030419						66	60	62					2																	213914541		2203	4300	6503	IKZF2	SO:0001583	missense	0			-	HGNC	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.470G>T	2.37:g.213914541C>A	ENSP00000412869:p.Arg157Ile	Somatic	0	83	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	46	47.73	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R157I	ENST00000434687.1	37	c.470	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.762983	0.96906	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.39406	1.75;1.75;1.75;1.75;1.08;1.75;1.75	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.65270	0.2675	M	0.64080	1.96	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;0.999	D;D;D;D	0.91635	0.994;0.994;0.999;0.998	T	0.62329	-0.6877	10	0.54805	T	0.06	-2.8649	20.5568	0.99304	0.0:1.0:0.0:0.0	.	131;131;131;157	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	I	157;163;157;131;131;131;157	ENSP00000410447:R157I;ENSP00000342876:R163I;ENSP00000412869:R157I;ENSP00000363439:R131I;ENSP00000395203:R131I;ENSP00000399574:R131I;ENSP00000402334:R157I	ENSP00000342876:R163I	R	-	2	0	IKZF2	213622786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.861000	0.98227	0.655000	0.94253	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	protein_coding	OTTHUMT00000256593.3	C	NM_016260	-		213914541	-1	no_errors	ENST00000434687	ensembl	human	known	74_37	missense	SNP	1.000	A	A	213914541	C	A	213914541	3	1	184	1	0	0	0	0	1	0	0	0	7617	913	32	3	1126	3	IKZF2	2	213914541	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	42103346	213914541	29284832	12	12819											
CCDC54	84692	genome.wustl.edu	37	chr3	107097189	107097189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtacatggatcaagctaaCttttgttcatggaggaaaat	9	6	2	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr3:107097189C>A	ENST00000261058.1	+	1	1002	c.755C>A	c.(754-756)aCt>aAt	p.T252N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	252										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATCAAGCTAACTTTTGTTCAT	0.388																																																	0								ENSG00000138483						95	103	100					3																	107097189		2203	4300	6503	CCDC54	SO:0001583	missense	0			-	HGNC	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.755C>A	3.37:g.107097189C>A	ENSP00000261058:p.Thr252Asn	Somatic	0	63	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	Q96A43	Missense_Mutation	SNP							NULL	p.T252N	ENST00000261058.1	37	c.755	CCDS2949.1	3	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316335	0.60524	.	.	ENSG00000138483	ENST00000261058	T	0.54866	0.55	4.85	4.85	0.62838	.	0.138126	0.33144	N	0.005234	T	0.68421	0.2999	M	0.64997	1.995	0.32392	N	0.553095	D	0.89917	1.0	D	0.77004	0.989	T	0.76377	-0.2981	10	0.72032	D	0.01	-11.2633	13.4648	0.61247	0.0:1.0:0.0:0.0	.	252	Q8NEL0	CCD54_HUMAN	N	252	ENSP00000261058:T252N	ENSP00000261058:T252N	T	+	2	0	CCDC54	108579879	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.488000	0.53229	2.243000	0.73865	0.460000	0.39030	ACT	-	NULL		0.388	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC54	protein_coding	OTTHUMT00000353651.1	C	NM_032600	-		107097189	1	no_errors	ENST00000261058	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107097189	C	A	107097189	3	1	184	1	0	0	0	0	1	0	0	0	2826	565	20	3	757	3	CCDC54	3	107097189	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		107097189	90925241	13	12820											
CLRN2	645104	genome.wustl.edu	37	chr4	17524516	17524516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgaaggagctcaacGcaggccttcatgtgatgatt	12	9	2	3	rs201748212		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr4:17524516G>A	ENST00000511148.2	+	2	385	c.283G>A	c.(283-285)Gca>Aca	p.A95T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	95						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAGCTCAACGCAGGCCTTCA	0.517																																																	0								ENSG00000249581						148	155	152					4																	17524516		2112	4227	6339	CLRN2	SO:0001583	missense	0			-	HGNC		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.283G>A	4.37:g.17524516G>A	ENSP00000424711:p.Ala95Thr	Somatic	0	35	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	28	51.72		Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin	p.A95T	ENST00000511148.2	37	c.283	CCDS47032.1	4	.	.	.	.	.	.	.	.	.	.	G	7.104	0.574732	0.13623	.	.	ENSG00000249581	ENST00000511148	D	0.91740	-2.9	4.94	-4.58	0.03410	.	0.696652	0.14101	N	0.341390	T	0.74794	0.3763	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65915	-0.6052	10	0.11182	T	0.66	-4.0E-4	9.3012	0.37847	0.7307:0.0:0.1481:0.1212	.	95	A0PK11	CLRN2_HUMAN	T	95	ENSP00000424711:A95T	ENSP00000424711:A95T	A	+	1	0	CLRN2	17133614	0.001000	0.12720	0.061000	0.19648	0.900000	0.52787	0.009000	0.13219	-0.658000	0.05366	-0.444000	0.05651	GCA	-	pfam_PMP22/EMP/MP20/Claudin		0.517	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	protein_coding	OTTHUMT00000359990.2	G	NM_001079827	-		17524516	1	no_errors	ENST00000511148	ensembl	human	known	74_37	missense	SNP	0.061	A	A	17524516	G	A	17524516	3	1	184	1	0	0	0	0	1	0	0	0	3560	1087	38	1	289	1	CLRN2	4	17524516	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		17524516	173629760	14	12821											
MAML3	55534	genome.wustl.edu	37	chr4	140812037	140812037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttgctagtcggagaaaAattcccatcacaagcaccat	7	11	1	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr4:140812037A>G	ENST00000509479.2	-	2	1409	c.553T>C	c.(553-555)Ttt>Ctt	p.F185L	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.F29L	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTCGGAGAAAAATTCCCATCA	0.468																																																	0								ENSG00000196782						74	69	70					4																	140812037		1955	4151	6106	MAML3	SO:0001583	missense	0			-	HGNC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.553T>C	4.37:g.140812037A>G	ENSP00000421180:p.Phe185Leu	Somatic	0	47	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66		Missense_Mutation	SNP							pfam_Neuroggenic_mastermind-like_N	p.F185L	ENST00000509479.2	37	c.553	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575261	0.28092	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.24151	1.87	5.3	5.3	0.74995	.	0.059344	0.64402	D	0.000002	T	0.21267	0.0512	L	0.31065	0.9	0.80722	D	1	P	0.48089	0.905	B	0.44224	0.444	T	0.02909	-1.1095	10	0.11794	T	0.64	.	15.263	0.73640	1.0:0.0:0.0:0.0	.	185	Q96JK9	MAML3_HUMAN	L	185;29	ENSP00000421180:F185L	ENSP00000313316:F29L	F	-	1	0	MAML3	141031487	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	8.905000	0.92613	1.999000	0.58509	0.477000	0.44152	TTT	-	NULL		0.468	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	A		-		140812037	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140812037	A	G	140812037	3	3	184	1	0	0	0	0	1	0	0	0	9209	14	1	5	2871	5	MAML3	4	140812037	Missense_Mutation	SNP	A	TCGA-MB-A8JL-01A-11D-A36J-09	123287521	140812037	50342239	15	12822											
PDZD2	23037	genome.wustl.edu	37	chr5	32089879	32089879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgtatgtggtaacaagCcagctgaaagcgacagacgg	13	8	0	3			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr5:32089879C>T	ENST00000438447.1	+	20	6713	c.6325C>T	c.(6325-6327)Cca>Tca	p.P2109S	PDZD2_ENST00000282493.3_Missense_Mutation_p.P2109S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2109					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGTAACAAGCCAGCTGAAAG	0.522																																																	0								ENSG00000133401						82	86	85					5																	32089879		2203	4300	6503	PDZD2	SO:0001583	missense	0			-	HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6325C>T	5.37:g.32089879C>T	ENSP00000402033:p.Pro2109Ser	Somatic	0	41	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q9BXD4	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P2109S	ENST00000438447.1	37	c.6325	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221212	0.22457	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07444	3.19;3.19	5.42	1.02	0.19986	.	0.976695	0.08379	N	0.954782	T	0.05364	0.0142	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45234	-0.9275	10	0.25751	T	0.34	.	5.7311	0.18040	0.0:0.5789:0.1466:0.2745	.	2109	O15018	PDZD2_HUMAN	S	2109;1910;2109	ENSP00000402033:P2109S;ENSP00000282493:P2109S	ENSP00000282493:P2109S	P	+	1	0	PDZD2	32125636	0.000000	0.05858	0.069000	0.20011	0.042000	0.13812	-0.049000	0.11924	0.255000	0.21593	-0.137000	0.14449	CCA	-	NULL		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	C		-		32089879	1	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	SNP	0.004	T	T	32089879	C	T	32089879	3	4	184	1	0	0	0	0	1	0	0	0	11703	739	26	2	6399	2	PDZD2	5	32089879	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		32089879	148825381	16	12823											
SLC30A5	64924	genome.wustl.edu	37	chr5	68411962	68411962	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagaccagcttcgggctatGaacaaagcagcacaccagga	10	12	0	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr5:68411962G>T	ENST00000396591.3	+	9	1603	c.993G>T	c.(991-993)atG>atT	p.M331I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	331					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCGGGCTATGAACAAAGCAG	0.428																																																	0								ENSG00000145740						114	118	117					5																	68411962		2203	4300	6503	SLC30A5	SO:0001583	missense	0			-	HGNC	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.993G>T	5.37:g.68411962G>T	ENSP00000379836:p.Met331Ile	Somatic	0	24	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP							pfam_Cation_efflux,tigrfam_Cation_efflux	p.M331I	ENST00000396591.3	37	c.993	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772817	0.31411	.	.	ENSG00000145740	ENST00000396591	T	0.62941	-0.01	5.68	2.77	0.32553	.	0.139230	0.85682	D	0.000000	T	0.42245	0.1194	N	0.16307	0.4	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.25222	-1.0138	10	0.42905	T	0.14	.	8.7987	0.34896	0.1384:0.1238:0.7378:0.0	.	160;160;331	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	I	331	ENSP00000379836:M331I	ENSP00000379836:M331I	M	+	3	0	SLC30A5	68447718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.041000	0.49807	0.876000	0.35872	0.585000	0.79938	ATG	-	NULL		0.428	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	protein_coding	OTTHUMT00000254017.2	G		-		68411962	1	no_errors	ENST00000396591	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68411962	G	T	68411962	3	4	184	1	0	0	0	0	1	0	0	0	14566	1290	45	3	1115	3	SLC30A5	5	68411962	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	36322083	68411962	112503298	17	12824											
MAP1B	4131	genome.wustl.edu	37	chr5	71491298	71491298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttaagaaagaaacaccgCcaaaggaagtcaagaaggaa	11	6	1	3			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr5:71491298C>A	ENST00000296755.7	+	5	2414	c.2116C>A	c.(2116-2118)Cca>Aca	p.P706T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	706	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				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)		agaaacaccgccaaaggaagt	0.363																																					Melanoma(17;367 822 11631 31730 47712)												0								ENSG00000131711						29	33	32					5																	71491298		2202	4291	6493	MAP1B	SO:0001583	missense	0			-	HGNC	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.2116C>A	5.37:g.71491298C>A	ENSP00000296755:p.Pro706Thr	Somatic	0	20	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A2BDK5	Missense_Mutation	SNP							pfam_MAP1B_neuraxin	p.P706T	ENST00000296755.7	37	c.2116	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.785256	0.00628	.	.	ENSG00000131711	ENST00000296755	T	0.20463	2.07	5.7	2.94	0.34122	.	0.320491	0.22428	N	0.060190	T	0.09730	0.0239	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.32508	-0.9904	10	0.12103	T	0.63	-0.2478	7.1746	0.25736	0.1235:0.6476:0.0:0.2289	.	580;706	A2BDK6;P46821	.;MAP1B_HUMAN	T	706	ENSP00000296755:P706T	ENSP00000296755:P706T	P	+	1	0	MAP1B	71527054	0.000000	0.05858	0.712000	0.30502	0.065000	0.16274	-0.141000	0.10327	1.410000	0.46936	0.655000	0.94253	CCA	-	NULL		0.363	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	C	NM_005909	-		71491298	1	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	SNP	0.019	A	A	71491298	C	A	71491298	3	1	184	1	0	0	0	0	1	0	0	0	9230	739	26	3	2134	3	MAP1B	5	71491298	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	3079336	71491298	109423962	18	12825											
BRD8	10902	genome.wustl.edu	37	chr5	137501727	137501727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatggatatttcactgctGtccatggaaacagtcacagt	8	9	3	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr5:137501727G>T	ENST00000254900.5	-	11	1439	c.1068C>A	c.(1066-1068)gaC>gaA	p.D356E	BRD8_ENST00000455658.2_Missense_Mutation_p.D315E|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000411594.2_Missense_Mutation_p.D359E|BRD8_ENST00000230901.5_Missense_Mutation_p.D429E|BRD8_ENST00000402931.1_Missense_Mutation_p.D356E	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	356					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCACTGCTGTCCATGGAAA	0.468																																																	0								ENSG00000112983						147	140	142					5																	137501727		2203	4300	6503	BRD8	SO:0001583	missense	0			-	HGNC	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1068C>A	5.37:g.137501727G>T	ENSP00000254900:p.Asp356Glu	Somatic	0	67	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.D356E	ENST00000254900.5	37	c.1068	CCDS4198.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.58|17.58	3.424303|3.424303	0.62733|0.62733	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000453824|ENST00000441656	T;T;T;T;T;T;T|.	0.34667|.	1.85;1.35;1.44;1.41;1.63;1.44;1.61|.	5.64|5.64	3.25|3.25	0.37280|0.37280	.|.	0.302902|.	0.37857|.	N|.	0.001910|.	T|T	0.39200|0.39200	0.1069|0.1069	N|N	0.24115|0.24115	0.695|0.695	0.45914|0.45914	D|D	0.998755|0.998755	D;D;D;D;P;D;D;D|.	0.76494|.	0.999;0.998;0.994;0.994;0.94;0.998;0.996;0.998|.	D;D;D;D;P;P;D;D|.	0.81914|.	0.995;0.99;0.978;0.978;0.647;0.875;0.99;0.99|.	T|T	0.11641|0.11641	-1.0579|-1.0579	10|5	0.37606|.	T|.	0.19|.	-15.8322|-15.8322	6.4968|6.4968	0.22146|0.22146	0.6652:0.0:0.3348:0.0|0.6652:0.0:0.3348:0.0	.|.	315;340;135;429;359;250;429;356|.	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;.;.;BRD8_HUMAN|.	E|K	356;385;354;429;356;359;250;315;174|350	ENSP00000254900:D356E;ENSP00000398067:D385E;ENSP00000398873:D354E;ENSP00000230901:D429E;ENSP00000384845:D356E;ENSP00000394330:D359E;ENSP00000408396:D315E|.	ENSP00000230901:D429E|.	D|T	-|-	3|2	2|0	BRD8|BRD8	137529626|137529626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.499000|1.499000	0.35671|0.35671	1.160000|1.160000	0.42584|0.42584	-0.312000|-0.312000	0.09012|0.09012	GAC|ACA	-	NULL		0.468	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	protein_coding	OTTHUMT00000251282.3	G	NM_006696	-		137501727	-1	no_errors	ENST00000254900	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137501727	G	T	137501727	3	4	184	1	0	0	0	0	1	0	0	0	1508	1368	48	3	2771	3	BRD8	5	137501727	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	66010429	137501727	43413533	19	12826											
FGFR4	2264	genome.wustl.edu	37	chr5	176524315	176524315	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgggctgatgcgtgagtgcTggcacgcagcgccctcccag	15	14	0	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr5:176524315T>A	ENST00000292408.4	+	17	2421	c.2176T>A	c.(2176-2178)Tgg>Agg	p.W726R	FGFR4_ENST00000393637.1_Missense_Mutation_p.W686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.W658R|FGFR4_ENST00000502906.1_Missense_Mutation_p.W726R|FGFR4_ENST00000292410.3_Missense_Mutation_p.W686R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	GCGTGAGTGCTGGCACGCAGC	0.677										TSP Lung(9;0.080)																																							0								ENSG00000160867						30	30	30					5																	176524315		2203	4300	6503	FGFR4	SO:0001583	missense	0			-	HGNC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2176T>A	5.37:g.176524315T>A	ENSP00000292408:p.Trp726Arg	Somatic	0	51	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.W726R	ENST00000292408.4	37	c.2176	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067873	0.55539	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	4.59	4.59	0.56863	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.94264	3.515	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	0.96165	0.9118	10	0.87932	D	0	.	13.7106	0.62665	0.0:0.0:0.0:1.0	.	658;686;726	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	R	726;658;726;686;686;954	ENSP00000292408:W726R;ENSP00000377259:W658R;ENSP00000424960:W726R;ENSP00000292410:W686R;ENSP00000377254:W686R	ENSP00000292408:W726R	W	+	1	0	FGFR4	176456921	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	8.037000	0.88933	1.723000	0.51488	0.254000	0.18369	TGG	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	T		-		176524315	1	no_errors	ENST00000292408	ensembl	human	known	74_37	missense	SNP	1.000	A	A	176524315	T	A	176524315	3	1	184	1	0	0	0	0	1	0	0	0	5870	1580	55	5	2308	5	FGFR4	5	176524315	Missense_Mutation	SNP	T	TCGA-MB-A8JL-01A-11D-A36J-09	39022588	176524315	4390945	20	12827											
MAS1L	116511	genome.wustl.edu	37	chr6	29454663	29454663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccccacctctggcttAtctgctaacgcccgttggag	8	16	2	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr6:29454663A>T	ENST00000377127.3	-	1	1075	c.1017T>A	c.(1015-1017)gaT>gaA	p.D339E		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	339					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTCTGGCTTATCTGCTAACG	0.512																																					NSCLC(153;755 1987 3859 11251 32945)												0								ENSG00000204687						148	147	147					6																	29454663		2203	4300	6503	MAS1L	SO:0001583	missense	0			-	HGNC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1017T>A	6.37:g.29454663A>T	ENSP00000366331:p.Asp339Glu	Somatic	0	75	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	35	48.53	Q5SUN5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D339E	ENST00000377127.3	37	c.1017	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	A	6.600	0.479121	0.12581	.	.	ENSG00000204687	ENST00000377127	T	0.02944	4.1	2.1	-4.19	0.03835	.	.	.	.	.	T	0.00695	0.0023	N	0.17764	0.52	0.09310	N	1	B	0.31790	0.34	B	0.44163	0.443	T	0.40270	-0.9572	9	0.10636	T	0.68	.	3.7626	0.08610	0.5436:0.0:0.2934:0.1629	.	339	P35410	MAS1L_HUMAN	E	339	ENSP00000366331:D339E	ENSP00000366331:D339E	D	-	3	2	MAS1L	29562642	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.268000	0.00263	-1.563000	0.01680	-0.569000	0.04157	GAT	-	NULL		0.512	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	protein_coding	OTTHUMT00000076126.2	A	NM_052967	-		29454663	-1	no_errors	ENST00000377127	ensembl	human	known	74_37	missense	SNP	0.001	T	T	29454663	A	T	29454663	3	4	184	1	0	0	0	0	1	0	0	0	9323	446	16	5	121	5	MAS1L	6	29454663	Missense_Mutation	SNP	A	TCGA-MB-A8JL-01A-11D-A36J-09		29454663	141660404	21	12828											
ENPP3	5169	genome.wustl.edu	37	chr6	132014684	132014684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctatttgactcctgatttGccaaagcgactgcactatgc	7	13	0	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr6:132014684G>A	ENST00000414305.1	+	16	1660	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	ENPP3_ENST00000358229.5_Silent_p.L444L|ENPP3_ENST00000357639.3_Silent_p.L444L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	444	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTCCTGATTTGCCAAAGCGAC	0.383																																																	0								ENSG00000154269						180	161	167					6																	132014684		2203	4300	6503	ENPP3	SO:0001819	synonymous_variant	0			-	HGNC	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1332G>A	6.37:g.132014684G>A		Somatic	0	81	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	Q5JTL3	Silent	SNP							pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.L444	ENST00000414305.1	37	c.1332	CCDS5148.1	6																																																																																			-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.383	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	protein_coding	OTTHUMT00000043627.2	G		-		132014684	1	no_errors	ENST00000357639	ensembl	human	known	74_37	silent	SNP	1.000	A	A	132014684	G	A	132014684	2	1	184	1	0	0	0	0	0	0	0	1	5133	1310	46	2		2	ENPP3	6	132014684	Silent	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	102560021	132014684	39100383	22	12829											
TNRC18	84629	genome.wustl.edu	37	chr7	5353375	5353375	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccttgggggccttggctcGcttgtccacaggctctgggg	16	13	1	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr7:5353375G>A	ENST00000430969.1	-	27	7495	c.7147C>T	c.(7147-7149)Cga>Tga	p.R2383*	TNRC18_ENST00000399537.4_Nonsense_Mutation_p.R2383*	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2383	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTGGCTCGCTTGTCCACA	0.697																																																	0								ENSG00000182095						12	14	13					7																	5353375		1537	3533	5070	TNRC18	SO:0001587	stop_gained	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7147C>T	7.37:g.5353375G>A	ENSP00000395538:p.Arg2383*	Somatic	0	23	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	9	52.63	A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R2383*	ENST00000430969.1	37	c.7147	CCDS47534.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.59|15.59	2.879051|2.879051	0.51801|0.51801	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.31772	.|N	.|0.007090	T|.	0.52256|.	0.1723|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53535|.	-0.8425|.	3|.	.|0.11485	.|T	.|0.65	.|.	15.4814|15.4814	0.75530|0.75530	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	196|2383	.|.	.|ENSP00000382452:R2383X	A|R	-|-	2|1	0|2	TNRC18|TNRC18	5319901|5319901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.281000|0.281000	0.26958|0.26958	3.999000|3.999000	0.57031|0.57031	2.172000|2.172000	0.68678|0.68678	0.561000|0.561000	0.74099|0.74099	GCG|CGA	-	NULL		0.697	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		G		-		5353375	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	nonsense	SNP	0.998	A	A	5353375	G	A	5353375	4	1	184	1	0	0	0	0	0	1	0	0	16346	1095	38	1	1775	1	TNRC18	7	5353375	Nonsense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		5353375	153785288	23	12830											
TNRC18	84629	genome.wustl.edu	37	chr7	5417646	5417646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccacacagtcctcatctgctCggccgtgccctgcagggggc	12	17	2	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr7:5417646C>A	ENST00000430969.1	-	6	2510	c.2162G>T	c.(2161-2163)cGa>cTa	p.R721L	TNRC18_ENST00000399537.4_Missense_Mutation_p.R721L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	721							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCATCTGCTCGGCCGTGCCC	0.706																																																	0								ENSG00000182095						33	39	37					7																	5417646		2080	4195	6275	TNRC18	SO:0001583	missense	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2162G>T	7.37:g.5417646C>A	ENSP00000395538:p.Arg721Leu	Somatic	0	20	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	37.04	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R721L	ENST00000430969.1	37	c.2162	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242635	0.22796	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.14266	2.52;2.52	4.38	4.38	0.52667	.	.	.	.	.	T	0.28067	0.0692	M	0.62723	1.935	0.27159	N	0.961201	D	0.60575	0.988	P	0.58873	0.847	T	0.03875	-1.0996	9	0.42905	T	0.14	.	10.6146	0.45443	0.0:0.9085:0.0:0.0915	.	721	O15417	TNC18_HUMAN	L	721;721;123	ENSP00000382452:R721L;ENSP00000395538:R721L	ENSP00000382452:R721L	R	-	2	0	TNRC18	5384172	0.990000	0.36364	0.270000	0.24601	0.391000	0.30476	3.175000	0.50855	2.129000	0.65627	0.561000	0.74099	CGA	-	NULL		0.706	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		C		-		5417646	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	SNP	0.726	A	A	5417646	C	A	5417646	3	1	184	1	0	0	0	0	1	0	0	0	16346	884	31	3	6844	3	TNRC18	7	5417646	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	64271	5417646	153721017	24	12831											
LMTK2	22853	genome.wustl.edu	37	chr7	97788700	97788700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggacagtgcgtagaagCgattccctacctcctggtgt	12	10	0	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr7:97788700C>T	ENST00000297293.5	+	6	913	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGTAGAAGCGATTCCCTAC	0.388																																																	0								ENSG00000164715						236	214	221					7																	97788700		2203	4300	6503	LMTK2	SO:0001583	missense	0			-	HGNC	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.620C>T	7.37:g.97788700C>T	ENSP00000297293:p.Ala207Val	Somatic	0	105	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	75	43.18	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A207V	ENST00000297293.5	37	c.620	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231563	0.58777	.	.	ENSG00000164715	ENST00000297293	T	0.62788	0.0	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055564	0.64402	D	0.000001	T	0.55465	0.1922	N	0.21617	0.685	0.58432	D	0.999995	P	0.51147	0.942	P	0.48030	0.564	T	0.54497	-0.8285	10	0.31617	T	0.26	.	16.2413	0.82409	0.0:1.0:0.0:0.0	.	207	Q8IWU2	LMTK2_HUMAN	V	207	ENSP00000297293:A207V	ENSP00000297293:A207V	A	+	2	0	LMTK2	97626636	1.000000	0.71417	0.955000	0.39395	0.855000	0.48748	5.159000	0.64923	2.423000	0.82170	0.655000	0.94253	GCG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.388	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	protein_coding	OTTHUMT00000334560.1	C	NM_014916	-		97788700	1	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	SNP	1.000	T	T	97788700	C	T	97788700	3	4	184	1	0	0	0	0	1	0	0	0	8861	768	27	1	642	1	LMTK2	7	97788700	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	92371054	97788700	61349963	25	12832											
FAM75A6	389730	genome.wustl.edu	37	chr9	43627364	43627364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacaagaaaggaggagaCtgtaaagtataagacctgtc	11	5	0	4			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr9:43627364C>A	ENST00000332857.6	-	4	1351	c.1323G>T	c.(1321-1323)caG>caT	p.Q441H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	441					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGGAGGAGACTGTAAAGTAT	0.512																																																	0								ENSG00000185775						29	32	31					9																	43627364		613	1521	2134	SPATA31A6	SO:0001583	missense	0			-	HGNC		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1323G>T	9.37:g.43627364C>A	ENSP00000329825:p.Gln441His	Somatic	0	184	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	86	84	50.29		Missense_Mutation	SNP							NULL	p.Q441H	ENST00000332857.6	37	c.1323	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728547	0.30593	.	.	ENSG00000185775	ENST00000332857	T	0.07908	3.15	2.56	-2.23	0.06930	.	0.992319	0.08173	N	0.986717	T	0.08403	0.0209	L	0.57536	1.79	0.09310	N	1	P	0.40731	0.728	B	0.41666	0.363	T	0.21793	-1.0235	10	0.45353	T	0.12	-0.0466	0.2867	0.00252	0.2137:0.3128:0.193:0.2805	.	441	Q5VVP1	F75A6_HUMAN	H	441	ENSP00000329825:Q441H	ENSP00000329825:Q441H	Q	-	3	2	FAM75A6	43567360	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.141000	0.03207	-0.532000	0.06332	0.449000	0.29647	CAG	-	NULL		0.512	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	protein_coding	OTTHUMT00000036987.1	C	NM_001145196	-		43627364	-1	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	SNP	0.000	A	A	43627364	C	A	43627364	3	1	184	1	0	0	0	0	1	0	0	0	5624	564	20	3	2712	3	FAM75A6	9	43627364	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		43627364	97586067	26	12833											
EXD3	54932	genome.wustl.edu	37	chr9	140218215	140218215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgtgggtgacacgcaCgttgaaatgcttgagcacag	14	9	1	3			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr9:140218215C>T	ENST00000340951.4	-	19	2341	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	EXD3_ENST00000342129.4_Missense_Mutation_p.V367M	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GTGACACGCACGTTGAAATGC	0.662																																																	0								ENSG00000187609						48	55	53					9																	140218215		2115	4237	6352	EXD3	SO:0001583	missense	0			-	HGNC		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2146G>A	9.37:g.140218215C>T	ENSP00000340474:p.Val716Met	Somatic	0	75	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	32	50.00	Q6P1M1|Q8IXT8	Missense_Mutation	SNP							pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.V716M	ENST00000340951.4	37	c.2146	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012190	0.35511	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.71698	-0.59;0.29	3.9	3.9	0.45041	.	0.074941	0.53938	D	0.000058	D	0.82674	0.5088	M	0.85945	2.785	0.28926	N	0.891822	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76921	-0.2780	10	0.87932	D	0	.	7.4835	0.27419	0.0:0.8778:0.0:0.1222	.	367;716	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	M	367;716	ENSP00000343705:V367M;ENSP00000340474:V716M	ENSP00000340474:V716M	V	-	1	0	EXD3	139338036	0.915000	0.31059	0.032000	0.17829	0.067000	0.16453	2.180000	0.42537	1.693000	0.51124	0.305000	0.20034	GTG	-	pfam_Mut7-C_RNAse_dom		0.662	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	protein_coding	OTTHUMT00000343182.1	C	NM_017820	-		140218215	-1	no_errors	ENST00000340951	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140218215	C	T	140218215	3	4	184	1	0	0	0	0	1	0	0	0	5301	536	19	1	500	1	EXD3	9	140218215	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	96590851	140218215	995216	27	12834											
ANKRD26	22852	genome.wustl.edu	37	chr10	27352964	27352964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttccgtctgcagccCcagctaaaggatcaacatac	6	13	3	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr10:27352964C>A	ENST00000376087.4	-	12	1481	c.1316G>T	c.(1315-1317)gGg>gTg	p.G439V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G488V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	439					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)				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						GTCTGCAGCCCCAGCTAAAGG	0.308																																																	0								ENSG00000107890						92	82	85					10																	27352964		1791	4063	5854	ANKRD26	SO:0001583	missense	0			-	HGNC	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.1316G>T	10.37:g.27352964C>A	ENSP00000365255:p.Gly439Val	Somatic	0	108	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	73	18.89	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP							pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G488V	ENST00000376087.4	37	c.1463	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	C	8.728	0.915936	0.17907	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.35421	1.42;1.31	4.16	-4.61	0.03380	.	.	.	.	.	T	0.25938	0.0632	M	0.71036	2.16	0.09310	N	0.999998	P;B;B	0.35107	0.484;0.352;0.352	B;B;B	0.30179	0.112;0.052;0.077	T	0.18461	-1.0336	9	0.32370	T	0.25	.	1.8087	0.03086	0.1439:0.2385:0.1417:0.4759	.	439;439;488	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	V	439;488	ENSP00000365255:G439V;ENSP00000405112:G488V	ENSP00000365255:G439V	G	-	2	0	ANKRD26	27392970	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.957000	0.03861	-0.741000	0.04797	-0.258000	0.10820	GGG	-	NULL		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	protein_coding	OTTHUMT00000047296.1	C		-		27352964	-1	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	SNP	0.001	A	A	27352964	C	A	27352964	3	1	184	1	0	0	0	0	1	0	0	0	654	623	22	3	3908	3	ANKRD26	10	27352964	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		27352964	108181783	28	12835											
OGDHL	55753	genome.wustl.edu	37	chr10	50944187	50944187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgggtacttctctgCctcctgcttgatcaggtcga	10	14	2	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr10:50944187C>T	ENST00000374103.4	-	22	2876	c.2791G>A	c.(2791-2793)Gca>Aca	p.A931T	OGDHL_ENST00000419399.1_Missense_Mutation_p.A874T|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.A722T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	931					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						TACTTCTCTGCCTCCTGCTTG	0.582																																																	0								ENSG00000197444						72	60	64					10																	50944187		2203	4300	6503	OGDHL	SO:0001583	missense	0			-	HGNC	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.2791G>A	10.37:g.50944187C>T	ENSP00000363216:p.Ala931Thr	Somatic	0	25	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP							pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A931T	ENST00000374103.4	37	c.2791	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881701	0.51908	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.12569	2.67;2.67;2.67	4.56	3.62	0.41486	.	0.278989	0.33753	N	0.004590	T	0.13756	0.0333	L	0.58810	1.83	0.39343	D	0.965622	B;B;B	0.11235	0.004;0.0;0.002	B;B;B	0.12837	0.008;0.005;0.006	T	0.07385	-1.0775	10	0.66056	D	0.02	.	7.223	0.25999	0.0:0.6813:0.1617:0.157	.	874;722;931	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	931;874;722	ENSP00000363216:A931T;ENSP00000401356:A874T;ENSP00000390240:A722T	ENSP00000363216:A931T	A	-	1	0	OGDHL	50614193	0.212000	0.23540	1.000000	0.80357	0.936000	0.57629	0.859000	0.27858	2.352000	0.79861	0.462000	0.41574	GCA	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.582	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	C	NM_018245	-		50944187	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50944187	C	T	50944187	3	4	184	1	0	0	0	0	1	0	0	0	10842	739	26	2	249	2	OGDHL	10	50944187	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	23591223	50944187	84590560	29	12836											
TACC2	10579	genome.wustl.edu	37	chr10	123970007	123970007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcacactccttctctgccGtcttcgatgaagacaagccg	8	15	3	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr10:123970007G>A	ENST00000369005.1	+	9	6407	c.6067G>A	c.(6067-6069)Gtc>Atc	p.V2023I	TACC2_ENST00000369004.3_Missense_Mutation_p.V101I|TACC2_ENST00000368999.1_Missense_Mutation_p.V101I|TACC2_ENST00000513429.1_Missense_Mutation_p.V169I|TACC2_ENST00000360561.3_Missense_Mutation_p.V101I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.V2027I|TACC2_ENST00000334433.3_Missense_Mutation_p.V2023I|TACC2_ENST00000515273.1_Missense_Mutation_p.V2027I|TACC2_ENST00000358010.1_Missense_Mutation_p.V169I|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.V1978I|TACC2_ENST00000260733.3_Missense_Mutation_p.V101I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2023					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)				CTTCTCTGCCGTCTTCGATGA	0.562																																																	0								ENSG00000138162						106	91	96					10																	123970007		2203	4300	6503	TACC2	SO:0001583	missense	0			-	HGNC	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.6067G>A	10.37:g.123970007G>A	ENSP00000358001:p.Val2023Ile	Somatic	0	23	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	37.14	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP							pfam_TACC	p.V2023I	ENST00000369005.1	37	c.6067	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373963	0.61735	.	.	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	0.09073	3.92;3.53;3.97;3.96;3.92;3.53;3.97;3.39;3.42;3.4;3.41;3.02	5.64	5.64	0.86602	.	0.000000	0.33534	N	0.004810	T	0.27933	0.0688	M	0.65975	2.015	0.35159	D	0.770476	D;D;P;D;D;D;D;D;D	0.89917	0.957;0.997;0.879;0.997;0.997;0.957;0.957;0.957;1.0	P;P;B;P;P;P;P;P;D	0.63877	0.454;0.876;0.266;0.876;0.876;0.454;0.454;0.454;0.919	T	0.07252	-1.0782	10	0.54805	T	0.06	-14.224	19.7154	0.96115	0.0:0.0:1.0:0.0	.	118;2027;101;1978;2027;101;101;169;2023	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	I	2023;169;2027;1978;2023;169;2027;2013;101;101;101;101;118	ENSP00000358001:V2023I;ENSP00000425062:V169I;ENSP00000424467:V2027I;ENSP00000427618:V1978I;ENSP00000334280:V2023I;ENSP00000350701:V169I;ENSP00000395048:V2027I;ENSP00000353763:V101I;ENSP00000357995:V101I;ENSP00000422815:V101I;ENSP00000260733:V101I;ENSP00000420967:V118I	ENSP00000260733:V101I	V	+	1	0	TACC2	123959997	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	7.293000	0.78740	2.664000	0.90586	0.655000	0.94253	GTC	-	NULL		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	G		-		123970007	1	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123970007	G	A	123970007	3	1	184	1	0	0	0	0	1	0	0	0	15509	1145	40	1	6169	1	TACC2	10	123970007	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	73025820	123970007	11564740	30	12837											
OR2AT4	341152	genome.wustl.edu	37	chr11	74799812	74799812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcaaatgctcctgtcaCagcctgggtcttgagacatg	11	10	3	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr11:74799812C>T	ENST00000305159.3	-	1	987	c.947G>A	c.(946-948)tGt>tAt	p.C316Y		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	316						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(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GCTCCTGTCACAGCCTGGGTC	0.438																																																	0								ENSG00000171561						137	117	124					11																	74799812		2200	4293	6493	OR2AT4	SO:0001583	missense	0			-	HGNC	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.947G>A	11.37:g.74799812C>T	ENSP00000304846:p.Cys316Tyr	Somatic	0	63	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	55	34.52	B9EGZ8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.C316Y	ENST00000305159.3	37	c.947	CCDS31639.1	11	.	.	.	.	.	.	.	.	.	.	C	2.280	-0.364899	0.05103	.	.	ENSG00000171561	ENST00000305159	T	0.01998	4.51	3.52	-0.677	0.11357	.	.	.	.	.	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47459	-0.9116	9	0.02654	T	1	.	2.8999	0.05702	0.3802:0.3966:0.0:0.2232	.	316	A6NND4	O2AT4_HUMAN	Y	316	ENSP00000304846:C316Y	ENSP00000304846:C316Y	C	-	2	0	OR2AT4	74477460	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.047000	0.03521	-0.131000	0.11578	-0.895000	0.02911	TGT	-	NULL		0.438	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AT4	protein_coding	OTTHUMT00000383734.1	C	NM_001005285	-		74799812	-1	no_errors	ENST00000305159	ensembl	human	known	74_37	missense	SNP	0.000	T	T	74799812	C	T	74799812	3	4	184	1	0	0	0	0	1	0	0	0	10989	478	17	2	18	2	OR2AT4	11	74799812	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		74799812	60206704	31	12838											
FDXACB1	91893	genome.wustl.edu	37	chr11	111745984	111745984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaatttttcaggaaacGgttatcaaacgtccacaaca	6	9	2	0	rs374516075		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr11:111745984G>A	ENST00000260257.4	-	5	1584	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	FDXACB1_ENST00000542429.1_Missense_Mutation_p.R364C|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	513					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TTCAGGAAACGGTTATCAAAC	0.378													G|||	1	0.000199681	8e-04	0	5008	,	,		22200	0		0	False		,,,				2504	0																0								ENSG00000255561	G	CYS/ARG	1,3723		0,1,1861	51	50	50		1537	6.1	1	11		50	0,8214		0,0,4107	no	missense	FDXACB1	NM_138378.2	180	0,1,5968	AA,AG,GG		0.0,0.0269,0.0084	probably-damaging	513/625	111745984	1,11937	1862	4107	5969	FDXACB1	SO:0001583	missense	0			-	HGNC		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1537C>T	11.37:g.111745984G>A	ENSP00000260257:p.Arg513Cys	Somatic	0	55	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	A0PJW7|B4DUU2	Missense_Mutation	SNP							pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.R513C	ENST00000260257.4	37	c.1537	CCDS44729.1	11	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730556	0.69074	2.69E-4	0.0	ENSG00000255561	ENST00000260257;ENST00000542429	T;D	0.83419	-0.73;-1.72	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.91426	0.5162	10	0.87932	D	0	.	15.3709	0.74564	0.0:0.0:0.8606:0.1393	.	513	Q9BRP7	FDXA1_HUMAN	C	513;364	ENSP00000260257:R513C;ENSP00000441304:R364C	ENSP00000260257:R513C	R	-	1	0	FDXACB1	111251194	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.868000	0.63021	2.884000	0.98904	0.655000	0.94253	CGT	-	NULL		0.378	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	protein_coding	OTTHUMT00000391497.1	G	NM_138378	-		111745984	-1	no_errors	ENST00000260257	ensembl	human	known	74_37	missense	SNP	0.998	A	A	111745984	G	A	111745984	3	1	184	1	0	0	0	0	1	0	0	0	5808	1116	39	1	341	1	FDXACB1	11	111745984	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	36946172	111745984	23260532	32	12839											
C12orf10	60314	genome.wustl.edu	37	chr12	53699735	53699735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatgctgtggacaatgGgatctcccagtgggcagagg	18	7	1	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr12:53699735G>A	ENST00000267103.5	+	4	585	c.533G>A	c.(532-534)gGg>gAg	p.G178E	C12orf10_ENST00000548632.1_Intron|C12orf10_ENST00000549488.1_Missense_Mutation_p.G15E	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	178					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGGACAATGGGATCTCCCAG	0.527																																																	0								ENSG00000139637						200	182	188					12																	53699735		2203	4300	6503	C12orf10	SO:0001583	missense	0			-	HGNC	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.533G>A	12.37:g.53699735G>A	ENSP00000267103:p.Gly178Glu	Somatic	0	47	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71		Missense_Mutation	SNP							pfam_Met-dep_prot_hydro	p.G15E	ENST00000267103.5	37	c.44	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940443	0.92526	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000549488	D;D	0.82433	-1.61;-1.61	4.9	4.9	0.64082	.	0.103430	0.64402	D	0.000003	D	0.92619	0.7655	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93723	0.7034	10	0.87932	D	0	-14.9501	13.7942	0.63160	0.0:0.0:1.0:0.0	.	178	Q9HB07	MYG1_HUMAN	E	178;63;15	ENSP00000267103:G178E;ENSP00000448433:G15E	ENSP00000267103:G178E	G	+	2	0	C12orf10	51986002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.231000	0.95317	2.736000	0.93811	0.655000	0.94253	GGG	-	pfam_Met-dep_prot_hydro		0.527	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	protein_coding	OTTHUMT00000406906.1	G	NM_021640	-		53699735	1	no_errors	ENST00000549488	ensembl	human	putative	74_37	missense	SNP	1.000	A	A	53699735	G	A	53699735	3	1	184	1	0	0	0	0	1	0	0	0	1676	1232	43	2	547	2	C12orf10	12	53699735	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		53699735	80152160	33	12840											
FAM109A	144717	genome.wustl.edu	37	chr12	111801137	111801137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcgccggtggtaggccGcgtgccgcccacccttcttg	13	17	1	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr12:111801137G>A	ENST00000547838.2	-	2	192	c.95C>T	c.(94-96)gCg>gTg	p.A32V	FAM109A_ENST00000361483.3_Missense_Mutation_p.A45V|FAM109A_ENST00000392658.5_Missense_Mutation_p.A32V|FAM109A_ENST00000450786.2_Missense_Mutation_p.R13W|FAM109A_ENST00000548163.1_Missense_Mutation_p.A32V			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	32	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						GTGGTAGGCCGCGTGCCGCCC	0.657																																																	0								ENSG00000198324						24	26	25					12																	111801137		2197	4297	6494	FAM109A	SO:0001583	missense	0			-	HGNC	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.95C>T	12.37:g.111801137G>A	ENSP00000447353:p.Ala32Val	Somatic	0	48	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	43.64	J3KP50|Q6PJL9|Q96MH8	Missense_Mutation	SNP							NULL	p.R13W	ENST00000547838.2	37	c.37	CCDS9152.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.019238|4.019238	0.75275|0.75275	.|.	.|.	ENSG00000198324|ENSG00000198324	ENST00000547838;ENST00000361483;ENST00000392658;ENST00000425655;ENST00000548163;ENST00000547710;ENST00000551863;ENST00000549321|ENST00000450786	T;T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.51;1.51;1.51;1.51|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.54481|0.54481	0.1861|0.1861	N|N	0.17800|0.17800	0.525|0.525	0.36895|0.36895	D|D	0.890096|0.890096	D;D|D	0.61697|0.76494	0.99;0.99|0.999	P;P|P	0.45639|0.56916	0.488;0.488|0.809	T|T	0.67126|0.67126	-0.5749|-0.5749	9|8	0.51188|0.87932	T|D	0.08|0	.|.	17.4068|17.4068	0.87475|0.87475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	32;32|13	Q8N4B1;B4DRN3|G3V0F1	SESQ1_HUMAN;.|.	V|W	32;45;32;32;32;32;32;32|13	ENSP00000447353:A32V;ENSP00000354461:A45V;ENSP00000376426:A32V;ENSP00000449994:A32V;ENSP00000447349:A32V;ENSP00000448625:A32V;ENSP00000447539:A32V|.	ENSP00000354461:A45V|ENSP00000390552:R13W	A|R	-|-	2|1	0|2	FAM109A|FAM109A	110285520|110285520	1.000000|1.000000	0.71417|0.71417	0.012000|0.012000	0.15200|0.15200	0.611000|0.611000	0.37282|0.37282	9.543000|9.543000	0.98089|0.98089	2.095000|2.095000	0.63458|0.63458	0.561000|0.561000	0.74099|0.74099	GCG|CGG	-	NULL		0.657	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM109A	protein_coding	OTTHUMT00000404768.2	G	NM_144671	-		111801137	-1	no_errors	ENST00000450786	ensembl	human	known	74_37	missense	SNP	0.999	A	A	111801137	G	A	111801137	3	1	184	1	0	0	0	0	1	0	0	0	5396	1087	38	1	658	1	FAM109A	12	111801137	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	58101402	111801137	22050758	34	12841											
DACH1	1602	genome.wustl.edu	37	chr13	72440659	72440664	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-													ctgccgccgccgcctccgctGccgccgccgccgccgccgcc					rs202136379		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	GCCGCC	GCCGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr13:72440659_72440664delGCCGCC	ENST00000359684.2	-	1	243_248	c.244_249delGGCGGC	c.(244-249)ggcggcdel	p.GG82del	DACH1_ENST00000305425.4_In_Frame_Del_p.GG82del|DACH1_ENST00000313174.7_In_Frame_Del_p.GG82del|DACH1_ENST00000354591.4_In_Frame_Del_p.GG82del			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	82	Poly-Gly.			Missing (in Ref. 1; AAF01351 and 2; AAL08487). {ECO:0000305}.	cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		cgcctccgctgccgccgccgccgccg	0.791																																																	0								ENSG00000165659																																			DACH1	SO:0001651	inframe_deletion	0				HGNC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.244_249delGGCGGC	13.37:g.72440665_72440670delGCCGCC	ENSP00000352712:p.Gly82_Gly83del	Somatic					0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1				D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	In_Frame_Del	DEL							pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.GG82in_frame_del	ENST00000359684.2	37	c.249_244		13																																																																																			-	NULL		0.791	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	protein_coding	OTTHUMT00000045240.1	GCCGCC	NM_004392			72440664	-1	no_errors	ENST00000359684	ensembl	human	known	74_37	in_frame_del	DEL	0.750:0.744:0.739:0.734:0.729:0.725	-	-	72440664	GCCGCC	-	72440659	7	5	184	1	0	1	0	1	0	0	0	0	4222	1306	46	0	1921	0	DACH1	13	72440659	In_Frame_Del	DEL	GCCGCC	TCGA-MB-A8JL-01A-11D-A36J-09		72440659	42729219	35	12842											
C15orf2	23742	genome.wustl.edu	37	chr15	24923769	24923769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcttttattctggggaatCcagcaaccccagcaccagtt	8	12	2	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr15:24923769C>T	ENST00000329468.2	+	1	3229	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	919					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCTGGGGAATCCAGCAACCCC	0.473																																																	0								ENSG00000185823						106	112	110					15																	24923769		2203	4300	6503	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2755C>T	15.37:g.24923769C>T	ENSP00000333735:p.Pro919Ser	Somatic	0	26	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	20	51.22		Missense_Mutation	SNP							NULL	p.P919S	ENST00000329468.2	37	c.2755	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	10.25	1.299659	0.23650	.	.	ENSG00000185823	ENST00000329468	T	0.05319	3.46	2.32	-2.32	0.06745	.	3.181850	0.01382	N	0.012946	T	0.04227	0.0117	N	0.14661	0.345	0.09310	N	1	P	0.40282	0.711	P	0.45276	0.475	T	0.33317	-0.9873	10	0.02654	T	1	.	2.6462	0.04985	0.2177:0.3392:0.0:0.4431	.	919	Q9NZP6	CO002_HUMAN	S	919	ENSP00000333735:P919S	ENSP00000333735:P919S	P	+	1	0	C15orf2	22474862	0.004000	0.15560	0.000000	0.03702	0.767000	0.43475	-0.052000	0.11865	-0.609000	0.05724	0.313000	0.20887	CCA	-	NULL		0.473	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	C	NM_018958	-		24923769	1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	T	T	24923769	C	T	24923769	3	4	184	1	0	0	0	0	1	0	0	0	1786	855	30	2	2757	2	C15orf2	15	24923769	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		24923769	77607623	36	12843											
ITGAM	3684	genome.wustl.edu	37	chr16	31338251	31338251	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctcctcaaggccaatgtGaccaggtgctctctgctacc	9	15	2	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr16:31338251G>A	ENST00000287497.8	+	22	2778	c.2703G>A	c.(2701-2703)gtG>gtA	p.V901V	ITGAM_ENST00000544665.3_Silent_p.V902V			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	901					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGCCAATGTGACCAGGTGCT	0.547																																																	0								ENSG00000169896						164	157	159					16																	31338251		1970	4150	6120	ITGAM	SO:0001819	synonymous_variant	0			-	HGNC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2703G>A	16.37:g.31338251G>A		Somatic	0	36	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	18	79.55	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V902	ENST00000287497.8	37	c.2706	CCDS45470.1	16																																																																																			-	pfam_Integrin_alpha-2		0.547	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	protein_coding	OTTHUMT00000432816.1	G	NM_000632	-		31338251	1	no_errors	ENST00000544665	ensembl	human	known	74_37	silent	SNP	0.999	A	A	31338251	G	A	31338251	2	1	184	1	0	0	0	0	0	0	0	1	7889	1277	45	2		2	ITGAM	16	31338251	Silent	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		31338251	59016502	37	12844											
ZBTB4	57659	genome.wustl.edu	37	chr17	7366451	7366451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcagtctctgagatgCggcgcttgacgatggcctcc	14	12	2	2	rs200881841		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr17:7366451C>T	ENST00000311403.4	-	4	2189	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R617H	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	617	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTCTGAGATGCGGCGCTTGAC	0.647																																																	0								ENSG00000174282						48	32	38					17																	7366451		2201	4300	6501	ZBTB4	SO:0001583	missense	0			-	HGNC	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1850G>A	17.37:g.7366451C>T	ENSP00000307858:p.Arg617His	Somatic	0	42	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R617H	ENST00000311403.4	37	c.1850	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924187	0.34002	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.03663	3.85;3.85	4.87	4.87	0.63330	.	0.144593	0.45606	D	0.000346	T	0.02193	0.0068	N	0.12569	0.235	0.33128	D	0.542739	P	0.49358	0.923	B	0.41332	0.354	T	0.41251	-0.9519	10	0.07990	T	0.79	-14.3087	10.5261	0.44950	0.0:0.9099:0.0:0.0901	.	617	Q9P1Z0	ZBTB4_HUMAN	H	617	ENSP00000307858:R617H;ENSP00000369973:R617H	ENSP00000307858:R617H	R	-	2	0	ZBTB4	7307175	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.420000	0.52735	2.533000	0.85409	0.462000	0.41574	CGC	-	NULL		0.647	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	protein_coding	OTTHUMT00000226940.2	C	NM_020899	rs200881841		7366451	-1	no_errors	ENST00000311403	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7366451	C	T	7366451	3	4	184	1	0	0	0	0	1	0	0	0	17548	768	27	1	1195	1	ZBTB4	17	7366451	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		7366451	73828759	38	12845											
TP53	7157	genome.wustl.edu	37	chr17	7577095	7577095	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttcctctgtgcgccgGtctctcccaggacaggcaca	9	16	3	0			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr17:7577095G>C	ENST00000269305.4	-	8	1032	c.843C>G	c.(841-843)gaC>gaG	p.D281E	TP53_ENST00000455263.2_Missense_Mutation_p.D281E|TP53_ENST00000420246.2_Missense_Mutation_p.D281E|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.D281E|TP53_ENST00000359597.4_Missense_Mutation_p.D281E	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281E(28)|p.R282W(10)|p.0?(8)|p.D281D(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(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)	CTGTGCGCCGGTCTCTCCCAG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	72	Substitution - Missense(39)|Deletion - In frame(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	skin(12)|upper_aerodigestive_tract(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|breast(6)|lung(5)|central_nervous_system(4)|bone(4)|urinary_tract(3)|oesophagus(3)|liver(3)|stomach(2)|endometrium(2)|large_intestine(1)|vulva(1)|genital_tract(1)|pancreas(1)|prostate(1)						ENSG00000141510						82	70	74					17																	7577095		2203	4300	6503	TP53	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;	-	HGNC	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.843C>G	17.37:g.7577095G>C	ENSP00000269305:p.Asp281Glu	Somatic	0	47	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	24	47.83	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D281E	ENST00000269305.4	37	c.843	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105939	0.77096	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	4.99	0.696	0.18075	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	0.99832	0.9924	M	0.92649	3.33	0.53005	D	0.999961	D;D;D;P	0.71674	0.993;0.998;0.995;0.916	D;D;D;D	0.91635	0.965;0.999;0.951;0.943	D	0.98567	1.0644	10	0.87932	D	0	-25.6697	7.6418	0.28298	0.4422:0.0:0.5578:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	281;281;281;281;281;270;149	ENSP00000352610:D281E;ENSP00000269305:D281E;ENSP00000398846:D281E;ENSP00000391127:D281E;ENSP00000391478:D281E;ENSP00000425104:D149E	ENSP00000269305:D281E	D	-	3	2	TP53	7517820	1.000000	0.71417	0.915000	0.36163	0.964000	0.63967	1.949000	0.40313	0.286000	0.22352	0.462000	0.41574	GAC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7577095	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.993	C	C	7577095	G	C	7577095	3	2	184	1	0	0	0	0	1	0	0	0	16388	1252	44	4	443	4	TP53	17	7577095	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09	210644	7577095	73618115	39	12846			2	90		2	2	30	N	G_C	4.309145e-05
TP53	7157	genome.wustl.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	8	15	1	0	rs121912657		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(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)	CAAACACGCACCTCAAAGCTG	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	GRCh37	CM920676	TP53	M	rs121912657	ENSG00000141510						62	54	57					17																	7577124		2203	4300	6503	TP53	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;	-	HGNC	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	Somatic	0	42	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V272M	ENST00000269305.4	37	c.814	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	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);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577124	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577124	C	T	7577124	3	4	184	1	0	0	0	0	1	0	0	0	16388	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	29	7577124	73618086	40	12847			2	90		2	2	30	N	G_C	4.309145e-05
ZNF521	25925	genome.wustl.edu	37	chr18	22805728	22805728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcgaaagaagacaaaGgtgtgcatgtccagcaggtg	15	7	0	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr18:22805728G>T	ENST00000361524.3	-	4	2302	c.2154C>A	c.(2152-2154)acC>acA	p.T718T	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.T498T|ZNF521_ENST00000538137.2_Silent_p.T718T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	718					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGAAGACAAAGGTGTGCATGT	0.438			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						100	99	100					18																	22805728		2203	4300	6503	ZNF521	SO:0001819	synonymous_variant	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2154C>A	18.37:g.22805728G>T		Somatic	0	43	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T718	ENST00000361524.3	37	c.2154	CCDS32806.1	18																																																																																			-	pfscan_Znf_C2H2		0.438	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	G	NM_015461	-		22805728	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	silent	SNP	1.000	T	T	22805728	G	T	22805728	2	4	184	1	0	0	0	0	0	0	0	1	17972	987	35	3		3	ZNF521	18	22805728	Silent	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		22805728	55271520	41	12848											
MED16	10025	genome.wustl.edu	37	chr19	871225	871225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaccagcgcctcgtcCggctcgctcgctgggccctc	10	20	1	0	rs376670615		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr19:871225C>T	ENST00000589119.1	-	12	2126	c.2127G>A	c.(2125-2127)ccG>ccA	p.P709P	MED16_ENST00000325464.1_Silent_p.P709P|MED16_ENST00000395808.3_Silent_p.P709P|MED16_ENST00000312090.6_Silent_p.P728P|MED16_ENST00000269814.4_Missense_Mutation_p.R645Q|MED16_ENST00000606828.1_5'Flank			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	709					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		GCGCCTCGTCCGGCTCGCTCG	0.711																																																	0								ENSG00000175221			0,4176		0,0,2088	9	9	9		2127	-8.2	0.1	19		9	4,8320		0,4,4158	no	coding-synonymous	MED16	NM_005481.2		0,4,6246	TT,TC,CC		0.0481,0.0,0.032		709/878	871225	4,12496	2088	4162	6250	MED16	SO:0001819	synonymous_variant	0			-	HGNC	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2127G>A	19.37:g.871225C>T		Somatic	0	13	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP							pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R645Q	ENST00000589119.1	37	c.1934	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	c	9.607	1.130305	0.21041	0.0	4.81E-4	ENSG00000175221	ENST00000269814	.	.	.	4.13	-8.25	0.01025	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11842	-1.0571	7	0.27082	T	0.32	-21.481	3.2061	0.06666	0.1236:0.1749:0.1902:0.5113	.	645	Q9Y2X0-4	.	Q	645	.	ENSP00000269814:R645Q	R	-	2	0	MED16	822225	0.000000	0.05858	0.106000	0.21319	0.082000	0.17680	-8.420000	0.00020	-2.655000	0.00422	-2.184000	0.00315	CGG	-	NULL		0.711	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	protein_coding	OTTHUMT00000457902.3	C	NM_005481	-		871225	-1	no_errors	ENST00000269814	ensembl	human	known	74_37	missense	SNP	0.017	T	T	871225	C	T	871225	2	4	184	1	0	0	0	0	0	0	0	1	9436	639	23	1		1	MED16	19	871225	Silent	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09		871225	58257758	42	12849											
ZNF285	26974	genome.wustl.edu	37	chr19	44892206	44892206	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcaatgaagcacttcttgCgaaaggtaacttaacccctt	7	11	1	1	rs73557001		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr19:44892206C>A	ENST00000330997.4	-	4	265	c.201G>T	c.(199-201)tcG>tcT	p.S67S	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S74S|ZNF285_ENST00000544719.2_Silent_p.S67S	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	67	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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCACTTCTTGCGAAAGGTAAC	0.413																																																	0								ENSG00000267508						87	91	89					19																	44892206		2203	4300	6503	ZNF285	SO:0001819	synonymous_variant	0			-	HGNC	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.201G>T	19.37:g.44892206C>A		Somatic	0	34	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S67	ENST00000330997.4	37	c.201	CCDS12638.1	19																																																																																			-	pfscan_Krueppel-associated_box		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	protein_coding	OTTHUMT00000443600.1	C	NM_152354	rs73557001		44892206	-1	no_errors	ENST00000330997	ensembl	human	known	74_37	silent	SNP	0.000	A	A	44892206	C	A	44892206	2	1	184	1	0	0	0	0	0	0	0	1	17829	755	27	3		3	ZNF285	19	44892206	Silent	SNP	C	TCGA-MB-A8JL-01A-11D-A36J-09	44020981	44892206	14236777	43	12850											
NLRP13	126204	genome.wustl.edu	37	chr19	56416319	56416319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttactccagtctctcTaaggcacacttggggtgagt	9	10	2	1			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr19:56416319T>C	ENST00000342929.3	-	8	2606	c.2607A>G	c.(2605-2607)ttA>ttG	p.L869L	NLRP13_ENST00000588751.1_Silent_p.L869L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	869							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAGTCTCTCTAAGGCACACT	0.423																																																	0								ENSG00000173572						91	78	82					19																	56416319		2203	4300	6503	NLRP13	SO:0001819	synonymous_variant	0			-	HGNC	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2607A>G	19.37:g.56416319T>C		Somatic	0	52	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	30	34.78	Q7RTR5	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L869	ENST00000342929.3	37	c.2607	CCDS33119.1	19																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.423	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	T	NM_176810	-		56416319	-1	no_errors	ENST00000342929	ensembl	human	known	74_37	silent	SNP	0.000	C	C	56416319	T	C	56416319	2	2	184	1	0	0	0	0	0	0	0	1	10477	1519	53	5		5	NLRP13	19	56416319	Silent	SNP	T	TCGA-MB-A8JL-01A-11D-A36J-09	11524113	56416319	2712664	44	12851											
CHODL	140578	genome.wustl.edu	37	chr21	19629315	19629315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagatgaaccttcctgcGgaagtgaaaagtgtgttgtg	12	7	0	3	rs202176979		TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr21:19629315G>A	ENST00000299295.2	+	3	809	c.418G>A	c.(418-420)Gga>Aga	p.G140R	CHODL_ENST00000338326.3_Missense_Mutation_p.G99R|CHODL_ENST00000400127.1_Missense_Mutation_p.G99R|CHODL_ENST00000400128.1_Missense_Mutation_p.G99R|CHODL_ENST00000400131.1_Missense_Mutation_p.G99R|CHODL_ENST00000400135.1_Missense_Mutation_p.G99R|CHODL_ENST00000543733.1_Missense_Mutation_p.G121R	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	140	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACCTTCCTGCGGAAGTGAAAA	0.453													G|||	1	0.000199681	0	0	5008	,	,		18703	0.001		0	False		,,,				2504	0																0								ENSG00000154645						86	79	82					21																	19629315		2203	4300	6503	CHODL	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.418G>A	21.37:g.19629315G>A	ENSP00000299295:p.Gly140Arg	Somatic	0	72	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	38	52.50	B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G140R	ENST00000299295.2	37	c.418	CCDS13570.1	21	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.286362	0.95517	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.57	5.57	0.84162	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	M	0.86502	2.82	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	0.59037	-0.7529	9	.	.	.	-16.4756	18.5511	0.91065	0.0:0.0:1.0:0.0	.	140;121;99	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	R	99;99;99;99;140;99;121	ENSP00000382993:G99R;ENSP00000382996:G99R;ENSP00000383001:G99R;ENSP00000382992:G99R;ENSP00000299295:G140R;ENSP00000339975:G99R;ENSP00000443566:G121R	.	G	+	1	0	CHODL	18551186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.619000	0.88677	0.650000	0.86243	GGA	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.453	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	protein_coding	OTTHUMT00000158232.1	G	NM_024944	rs202176979		19629315	1	no_errors	ENST00000299295	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19629315	G	A	19629315	3	1	184	1	0	0	0	0	1	0	0	0	3366	1117	39	1	428	1	CHODL	21	19629315	Missense_Mutation	SNP	G	TCGA-MB-A8JL-01A-11D-A36J-09		19629315	28500580	45	12852											
CABIN1	23523	genome.wustl.edu	37	chr22	24573619	24573619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accagagggtcacccaggcaAgcctgagcccagccgggcta	13	15	1	2			TCGA-MB-A8JL-01A-11D-A36J-09	TCGA-MB-A8JL-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0476440f-78db-40fe-a45e-5c5e3e44bc03	3e532fd9-8d4e-4826-8969-6d5699e774ff	g.chr22:24573619A>C	ENST00000398319.2	+	36	6738	c.6353A>C	c.(6352-6354)aAg>aCg	p.K2118T	CABIN1_ENST00000405822.2_Missense_Mutation_p.K2039T|CABIN1_ENST00000263119.5_Missense_Mutation_p.K2118T|CABIN1_ENST00000337989.7_Missense_Mutation_p.K488T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2118	Required for interaction with calcineurin. {ECO:0000250}.				cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACCCAGGCAAGCCTGAGCCC	0.677																																																	0								ENSG00000099991						59	54	55					22																	24573619		2203	4300	6503	CABIN1	SO:0001583	missense	0			-	HGNC	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6353A>C	22.37:g.24573619A>C	ENSP00000381364:p.Lys2118Thr	Somatic	0	72	0		0.662597180906594				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	58	31.76	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP							pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K2118T	ENST00000398319.2	37	c.6353	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	A	17.06	3.291373	0.59976	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20200	2.09;2.09;2.09;2.19	4.62	4.62	0.57501	.	0.222101	0.39341	N	0.001394	T	0.30479	0.0766	L	0.27053	0.805	0.44048	D	0.996782	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.02691	-1.1123	10	0.27785	T	0.31	.	12.5223	0.56067	1.0:0.0:0.0:0.0	.	2039;2118	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	T	2118;2039;2118;488;487	ENSP00000263119:K2118T;ENSP00000384694:K2039T;ENSP00000381364:K2118T;ENSP00000336991:K488T	ENSP00000263119:K2118T	K	+	2	0	CABIN1	22903619	1.000000	0.71417	0.105000	0.21289	0.409000	0.31022	5.907000	0.69908	2.042000	0.60477	0.529000	0.55759	AAG	-	NULL		0.677	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	protein_coding	OTTHUMT00000320161.2	A	NM_012295	-		24573619	1	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	SNP	0.996	C	C	24573619	A	C	24573619	3	2	184	1	0	0	0	0	1	0	0	0	2530	72	3	5	6491	5	CABIN1	22	24573619	Missense_Mutation	SNP	A	TCGA-MB-A8JL-01A-11D-A36J-09		24573619	26730947	46	12853											
CCDC19	25790	genome.wustl.edu	37	chr1	159860314	159860314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagctggatggtctcTggcttgcgatccaagcccaa	13	10	1	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:159860314T>C	ENST00000368099.4	-	3	292	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGATGGTCTCTGGCTTGCGAT	0.552																																																	0								ENSG00000213085						172	155	161					1																	159860314		2203	4300	6503	CCDC19	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000368099.4:c.228A>G	1.37:g.159860314T>C		Somatic	0	140	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05		Silent	SNP							NULL	p.P76	ENST00000368099.4	37	c.228	CCDS30914.1	1																																																																																			-	NULL		0.552	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	protein_coding	OTTHUMT00000085979.1	T		-		159860314	-1	no_errors	ENST00000368099	ensembl	human	known	74_37	silent	SNP	0.001	C	C	159860314	T	C	159860314	2	2	185	1	0	0	0	0	0	0	0	1	2797	1567	55	5		5	CCDC19	1	159860314	Silent	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09		159860314	89390307	1	12854											
ASTN1	460	genome.wustl.edu	37	chr1	176998830	176998830	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtcagctgggggtcgttttCtgcctctgtgccagaatccc	13	12	3	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:176998830C>T	ENST00000367654.3	-	5	1271	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Missense_Mutation_p.E354K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E354K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E354K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	354					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGTCGTTTTCTGCCTCTGTG	0.502																																																	0								ENSG00000152092						67	62	64					1																	176998830		2203	4300	6503	ASTN1	SO:0001583	missense	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1060G>A	1.37:g.176998830C>T	ENSP00000356626:p.Glu354Lys	Somatic	0	138	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.E354K	ENST00000367654.3	37	c.1060		1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127476	0.77549	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15487	2.42;2.83;2.83;2.42	5.03	5.03	0.67393	.	0.047110	0.85682	D	0.000000	T	0.13415	0.0325	N	0.14661	0.345	0.48511	D	0.999667	B;B;B	0.23185	0.081;0.058;0.058	B;B;B	0.23419	0.046;0.022;0.022	T	0.09207	-1.0685	10	0.52906	T	0.07	-22.5292	18.3563	0.90358	0.0:1.0:0.0:0.0	.	354;354;354	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	354	ENSP00000356629:E354K;ENSP00000354536:E354K;ENSP00000356626:E354K;ENSP00000395041:E354K	ENSP00000354536:E354K	E	-	1	0	ASTN1	175265453	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.061000	0.76699	2.469000	0.83416	0.650000	0.86243	GAA	-	NULL		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		C	NM_004319	-		176998830	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176998830	C	T	176998830	3	4	185	1	0	0	0	0	1	0	0	0	1064	922	32	2	2904	2	ASTN1	1	176998830	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	17138516	176998830	72251791	2	12855											
PPP1R15B	84919	genome.wustl.edu	37	chr1	204378937	204378937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctccccagaactatGctcaggggtctcaggaaggc	10	13	3	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:204378937G>T	ENST00000367188.4	-	1	1982	c.1603C>A	c.(1603-1605)Cat>Aat	p.H535N	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	535					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCAGAACTATGCTCAGGGGTC	0.473																																																	0								ENSG00000158615						52	53	53					1																	204378937		2203	4300	6503	PPP1R15B	SO:0001583	missense	0			-	HGNC	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1603C>A	1.37:g.204378937G>T	ENSP00000356156:p.His535Asn	Somatic	0	70	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP							pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.H535N	ENST00000367188.4	37	c.1603	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	G	4.984	0.182700	0.09495	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.23348	1.91	4.74	0.682	0.17992	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	2.838560	0.00919	N	0.002571	T	0.19927	0.0479	L	0.51422	1.61	0.09310	N	1	P	0.38677	0.642	B	0.25614	0.062	T	0.17961	-1.0352	10	0.32370	T	0.25	3.4789	4.9209	0.13869	0.2622:0.154:0.5838:0.0	.	535	Q5SWA1	PR15B_HUMAN	N	535;445	ENSP00000356156:H535N	ENSP00000356156:H535N	H	-	1	0	PPP1R15B	202645560	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	0.149000	0.16243	-0.029000	0.13827	0.655000	0.94253	CAT	-	pfam_Prot_Pase1_reg-su15A/B_C		0.473	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	protein_coding	OTTHUMT00000087974.1	G	NM_032833	-		204378937	-1	no_errors	ENST00000367188	ensembl	human	known	74_37	missense	SNP	0.001	T	T	204378937	G	T	204378937	3	4	185	1	0	0	0	0	1	0	0	0	12369	1319	46	3	546	3	PPP1R15B	1	204378937	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	27380107	204378937	44871684	3	12856											
USH2A	7399	genome.wustl.edu	37	chr1	216062283	216062284	+	Frame_Shift_Ins	INS	-	-	AT													aagtatagacggccatgtagINSataaatgttataatgggtaa							TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:216062283_216062284insAT	ENST00000307340.3	-	41	8093_8094	c.7707_7708insAT	c.(7705-7710)tatctafs	p.L2570fs	USH2A_ENST00000366943.2_Frame_Shift_Ins_p.L2570fs|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2570	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGCCATGTAGATAAATGTTAT	0.416										HNSCC(13;0.011)																																							0								ENSG00000042781																																			USH2A	SO:0001589	frameshift_variant	0				HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7706_7707dupAT	1.37:g.216062284_216062285dupAT	ENSP00000305941:p.Leu2570fs	Somatic	0	50	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L2569fs	ENST00000307340.3	37	c.7708_7707	CCDS31025.1	1																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.416	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	-	NM_007123			216062284	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	AT	AT	216062284	-	AT	216062283	7	5	185	1	0	1	1	0	0	0	0	0	17043	933	33	0	8028	0	USH2A	1	216062283	Frame_Shift_Ins	INS	-	TCGA-MJ-A68H-01A-11D-A307-09	11683346	216062283	33188338	4	12857											
SOS1	6654	genome.wustl.edu	37	chr2	39216428	39216428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttgggccatggggcagaGtaacttggataaagacggta	14	6	0	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:39216428G>T	ENST00000426016.1	-	22	3460	c.3374C>A	c.(3373-3375)aCt>aAt	p.T1125N	SOS1_ENST00000402219.2_Missense_Mutation_p.T1125N|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000395038.2_Intron			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1125					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)			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)				ATGGGGCAGAGTAACTTGGAT	0.333									Noonan syndrome																																								0								ENSG00000115904						75	76	76					2																	39216428		2203	4300	6503	SOS1	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	-	HGNC	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.3374C>A	2.37:g.39216428G>T	ENSP00000387784:p.Thr1125Asn	Somatic	0	61	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A8K2G3|B4DXG2	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T1125N	ENST00000426016.1	37	c.3374	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557392	0.45590	.	.	ENSG00000115904	ENST00000426016;ENST00000402219	T;T	0.75154	-0.91;-0.91	6.07	6.07	0.98685	.	0.533786	0.18629	N	0.135625	T	0.55305	0.1912	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.12156	0.007	T	0.52616	-0.8552	10	0.12766	T	0.61	.	16.1526	0.81632	0.0:0.0:1.0:0.0	.	1125	Q07889	SOS1_HUMAN	N	1125	ENSP00000387784:T1125N;ENSP00000384675:T1125N	ENSP00000384675:T1125N	T	-	2	0	SOS1	39069932	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.603000	0.74145	2.890000	0.99128	0.585000	0.79938	ACT	-	NULL		0.333	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	protein_coding	OTTHUMT00000219948.3	G	NM_005633	-		39216428	-1	no_errors	ENST00000402219	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39216428	G	T	39216428	3	4	185	1	0	0	0	0	1	0	0	0	14944	1029	36	3	639	3	SOS1	2	39216428	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		39216428	203982945	5	12858											
SMYD5	10322	genome.wustl.edu	37	chr2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-													cctcagaagaggaagaggaaGaggaggaggaggaggaagga							TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																																	0								ENSG00000135632																																			SMYD5	SO:0001651	inframe_deletion	0				HGNC	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del	Somatic	0	92	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	D6W5H3|Q13558	In_Frame_Del	DEL							pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.E401in_frame_del	ENST00000389501.4	37	c.1192_1194	CCDS33221.2	2																																																																																			-	NULL		0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	protein_coding	OTTHUMT00000318301.1	GAG	NM_006062			73453011	1	no_errors	ENST00000389501	ensembl	human	known	74_37	in_frame_del	DEL	0.844:0.825:0.001	-	-	73453011	GAG	-	73453009	7	5	185	1	0	1	0	1	0	0	0	0	14833	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-MJ-A68H-01A-11D-A307-09	34236581	73453009	169746364	6	12859											
FARSB	10056	genome.wustl.edu	37	chr2	223493573	223493573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggaaaggtatgtgattTtccattaggaaaaaccactt	8	6	0	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:223493573T>C	ENST00000281828.6	-	10	1146	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E	FARSB_ENST00000536361.1_Missense_Mutation_p.K196E	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	295					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTATGTGATTTTCCATTAGGA	0.338																																																	0								ENSG00000116120						184	184	184					2																	223493573		2203	4300	6503	FARSB	SO:0001583	missense	0			-	HGNC	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.883A>G	2.37:g.223493573T>C	ENSP00000281828:p.Lys295Glu	Somatic	0	99	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP							pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.K295E	ENST00000281828.6	37	c.883	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	T	7.360	0.624711	0.14193	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.30182	1.54;1.54	6.03	6.03	0.97812	.	0.243928	0.47852	N	0.000211	T	0.17066	0.0410	N	0.17564	0.495	0.45239	D	0.99824	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09228	-1.0684	10	0.06891	T	0.86	-18.6534	11.6145	0.51080	0.1327:0.0:0.0:0.8673	.	295;295	A8K666;Q9NSD9	.;SYFB_HUMAN	E	295;196	ENSP00000281828:K295E;ENSP00000442950:K196E	ENSP00000281828:K295E	K	-	1	0	FARSB	223201817	1.000000	0.71417	0.986000	0.45419	0.935000	0.57460	4.894000	0.63206	2.308000	0.77769	0.533000	0.62120	AAA	-	tigrfam_Phe-tRNA-synth_IIc_bsu_arc		0.338	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	protein_coding	OTTHUMT00000256855.2	T	NM_005687	-		223493573	-1	no_errors	ENST00000281828	ensembl	human	known	74_37	missense	SNP	0.998	C	C	223493573	T	C	223493573	3	2	185	1	0	0	0	0	1	0	0	0	5682	1850	64	5	918	5	FARSB	2	223493573	Missense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09	150040564	223493573	19705800	7	12860											
TRIP12	9320	genome.wustl.edu	37	chr2	230678613	230678613	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttagcctttgggttagcaaTgggagtgaatctgccacaaa	12	7	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:230678613T>A	ENST00000283943.5	-	12	1993	c.1815A>T	c.(1813-1815)ccA>ccT	p.P605P	TRIP12_ENST00000389044.4_Silent_p.P653P|TRIP12_ENST00000389045.3_Silent_p.P308P|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	605					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGGTTAGCAATGGGAGTGAAT	0.323																																																	0								ENSG00000153827						66	62	63					2																	230678613		2203	4300	6503	TRIP12	SO:0001819	synonymous_variant	0			-	HGNC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1815A>T	2.37:g.230678613T>A		Somatic	0	83	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP							pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.P605	ENST00000283943.5	37	c.1815	CCDS33391.1	2																																																																																			-	superfamily_ARM-type_fold		0.323	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	protein_coding	OTTHUMT00000331861.3	T	NM_004238	-		230678613	-1	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	SNP	0.370	A	A	230678613	T	A	230678613	2	1	185	1	0	0	0	0	0	0	0	1	16563	1451	51	5		5	TRIP12	2	230678613	Silent	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09	7185040	230678613	12520760	8	12861											
KIF1A	547	genome.wustl.edu	37	chr2	241662925	241662925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggttctcctcgccccGgacataggccacagatgtgt	11	14	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:241662925G>A	ENST00000320389.7	-	40	4224	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1457W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1356					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCTCGCCCCGGACATAGGCC	0.652																																																	0								ENSG00000130294						20	24	23					2																	241662925		2007	4142	6149	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4066C>T	2.37:g.241662925G>A	ENSP00000322791:p.Arg1356Trp	Somatic	0	73	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1457W	ENST00000320389.7	37	c.4369	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276508	0.80580	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.81247	-1.11;-1.21;-1.47	3.33	3.33	0.38152	.	0.000000	0.85682	U	0.000000	D	0.88610	0.6483	M	0.81112	2.525	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.85130	0.997;0.967;0.8	D	0.89606	0.3838	10	0.87932	D	0	.	11.5518	0.50725	0.0:0.0:0.8208:0.1792	.	1457;1465;1356	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	1356;1457;1465;1465	ENSP00000322791:R1356W;ENSP00000438388:R1457W;ENSP00000384231:R1465W	ENSP00000322791:R1356W	R	-	1	2	KIF1A	241311598	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.427000	0.66483	1.403000	0.46800	0.491000	0.48974	CGG	-	NULL		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-		241662925	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	1.000	A	A	241662925	G	A	241662925	3	1	185	1	0	0	0	0	1	0	0	0	8285	1115	39	1	1038	1	KIF1A	2	241662925	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	10984312	241662925	1536448	9	12862											
ROBO2	6092	genome.wustl.edu	37	chr3	77638020	77638020	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgcctgctgggtaattctGatgggttttagcatatggtt	14	5	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:77638020G>A	ENST00000461745.1	+	17	3519	c.2619G>A	c.(2617-2619)ctG>ctA	p.L873L	ROBO2_ENST00000487694.3_Silent_p.L889L|ROBO2_ENST00000332191.8_Silent_p.L873L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	873					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGGTAATTCTGATGGGTTTTA	0.408																																																	0								ENSG00000185008						180	170	173					3																	77638020		1891	4124	6015	ROBO2	SO:0001819	synonymous_variant	0			-	HGNC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2619G>A	3.37:g.77638020G>A		Somatic	0	204	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	168	12.95	O43608|Q19AB4|Q19AB5	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L873	ENST00000461745.1	37	c.2619	CCDS43109.1	3																																																																																			-	NULL		0.408	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000352600.2	G	XM_031246	-		77638020	1	no_errors	ENST00000461745	ensembl	human	known	74_37	silent	SNP	1.000	A	A	77638020	G	A	77638020	2	1	185	1	0	0	0	0	0	0	0	1	13522	1277	45	2		2	ROBO2	3	77638020	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		77638020	120384410	10	12863											
SLC35A5	55032	genome.wustl.edu	37	chr3	112300027	112300027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtctttgacttcaggCcctccctggaatttttcttg	8	12	3	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:112300027C>T	ENST00000492406.1	+	6	1346	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	355					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TGACTTCAGGCCCTCCCTGGA	0.448																																																	0								ENSG00000138459						67	67	67					3																	112300027		2203	4299	6502	SLC35A5	SO:0001583	missense	0			-	HGNC	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"Solute carriers"	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1063C>T	3.37:g.112300027C>T	ENSP00000417654:p.Pro355Ser	Somatic	1	160	0.62		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP							pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.P355S	ENST00000492406.1	37	c.1063	CCDS2967.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687701	0.88639	.	.	ENSG00000138459	ENST00000492406	T	0.46063	0.88	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76479	-0.2944	9	.	.	.	-15.1524	20.3559	0.98840	0.0:1.0:0.0:0.0	.	355	Q9BS91	S35A5_HUMAN	S	355	ENSP00000417654:P355S	.	P	+	1	0	SLC35A5	113782717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.403000	0.79983	2.890000	0.99128	0.585000	0.79938	CCC	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	protein_coding	OTTHUMT00000354184.1	C	NM_017945	-		112300027	1	no_errors	ENST00000492406	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112300027	C	T	112300027	3	4	185	1	0	0	0	0	1	0	0	0	14582	739	26	2	1081	2	SLC35A5	3	112300027	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	34662007	112300027	85722403	11	12864											
IQCG	84223	genome.wustl.edu	37	chr3	197665423	197665423	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtcttccttccttacctatCaatctgaattttcttcagtg	4	11	5	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:197665423C>G	ENST00000265239.6	-	5	935	c.511G>C	c.(511-513)Gat>Cat	p.D171H	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.D171H|IQCG_ENST00000453254.1_Missense_Mutation_p.D171H	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	171						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CCTTACCTATCAATCTGAATT	0.448																																																	0								ENSG00000114473						203	193	196					3																	197665423		2203	4300	6503	IQCG	SO:0001583	missense	0			-	HGNC	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.511G>C	3.37:g.197665423C>G	ENSP00000265239:p.Asp171His	Somatic	0	112	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	Q9BST2|Q9HAG8	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.D171H	ENST00000265239.6	37	c.511	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587228	0.66105	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.76968	0.16;0.16;0.89;-1.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88366	0.6417	M	0.81341	2.54	0.46028	D	0.998829	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88353	0.2982	10	0.51188	T	0.08	.	16.5383	0.84377	0.0:1.0:0.0:0.0	.	171;171	C9JKX8;Q9H095	.;IQCG_HUMAN	H	171;171;171;152	ENSP00000265239:D171H;ENSP00000407736:D171H;ENSP00000389897:D171H;ENSP00000406411:D152H	ENSP00000265239:D171H	D	-	1	0	IQCG	199149820	0.940000	0.31905	0.745000	0.31077	0.538000	0.34931	3.805000	0.55575	2.759000	0.94783	0.558000	0.71614	GAT	-	NULL		0.448	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	protein_coding	OTTHUMT00000339730.1	C	NM_032263	-		197665423	-1	no_errors	ENST00000265239	ensembl	human	known	74_37	missense	SNP	0.956	G	G	197665423	C	G	197665423	3	3	185	1	0	0	0	0	1	0	0	0	7812	826	29	4	852	4	IQCG	3	197665423	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	85365396	197665423	357007	12	12865											
BEND4	389206	genome.wustl.edu	37	chr4	42145445	42145445	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggaatatggcaggatacCtgggatgctctctaatttcc	10	9	1	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr4:42145445C>A	ENST00000502486.1	-	3	1633	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	BEND4_ENST00000504360.1_Splice_Site_p.V348L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	352										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GGCAGGATACCTGGGATGCTC	0.433																																																	0								ENSG00000188848						55	53	54					4																	42145445		1554	3249	4803	BEND4	SO:0001630	splice_region_variant	0			-	HGNC	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1054+1G>T	4.37:g.42145445C>A		Somatic	0	84	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	42	43.24	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP							pfam_BEN_domain	p.V352L	ENST00000502486.1	37	c.1054	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958404	0.74016	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.35	5.35	0.76521	.	0.132260	0.50627	D	0.000109	T	0.55386	0.1917	N	0.24115	0.695	0.80722	D	1	P;P;P	0.51351	0.942;0.944;0.942	P;P;P	0.50659	0.647;0.523;0.647	T	0.52071	-0.8624	8	.	.	.	-14.0374	19.0658	0.93110	0.0:1.0:0.0:0.0	.	274;352;352	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	223;352;348	.	.	V	-	1	0	BEND4	41840202	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.487000	0.81328	2.519000	0.84933	0.467000	0.42956	GTG	-	NULL		0.433	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	protein_coding	OTTHUMT00000360975.2	C	NM_207406	-	Missense_Mutation	42145445	-1	no_errors	ENST00000502486	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42145445	C	A	42145445	5	1	185	1	0	0	0	0	0	0	1	0	1400	695	24	3	566	3	BEND4	4	42145445	Splice_Site	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09		42145445	149008831	13	12866											
ADAMTS6	11174	genome.wustl.edu	37	chr5	64466447	64466447	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccatggaaaactcaccttCagtattagaaatgggggtac	9	9	2	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr5:64466447C>T	ENST00000314351.5	-	0	900							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AACTCACCTTCAGTATTAGAA	0.483																																																	0								ENSG00000049192						61	56	57					5																	64466447		2203	4300	6503	ADAMTS6	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-422G>A	5.37:g.64466447C>T		Somatic	0	77	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E1081K	ENST00000314351.5	37	c.3241		5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723193	0.89298	.	.	ENSG00000049192	ENST00000381055	T	0.58652	0.32	5.7	5.7	0.88788	PLAC (1);	0.048307	0.85682	D	0.000000	T	0.56426	0.1984	L	0.61218	1.895	0.80722	D	1	P	0.37914	0.611	B	0.36186	0.219	T	0.53725	-0.8398	10	0.15952	T	0.53	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	1081	Q9UKP5	ATS6_HUMAN	K	1081	ENSP00000370443:E1081K	ENSP00000370443:E1081K	E	-	1	0	ADAMTS6	64502203	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.459000	0.80802	2.693000	0.91896	0.650000	0.86243	GAA	-	pfscan_PLAC		0.483	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	protein_coding	OTTHUMT00000157334.2	C	NM_197941	-		64466447	-1	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64466447	C	T	64466447	1	4	185	0	1	0	0	0	0	0	0	0	270	835	29	2		2	ADAMTS6	5	64466447	5'UTR	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09		64466447	116448813	14	12867											
BRD2	6046	genome.wustl.edu	37	chr6	32948413	32948413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagcagtgtcacgccttaGcgcttccagctccagctcag	10	14	2	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr6:32948413G>A	ENST00000374825.4	+	13	4025	c.2324G>A	c.(2323-2325)aGc>aAc	p.S775N	BRD2_ENST00000443797.2_Missense_Mutation_p.S655N|BRD2_ENST00000449085.2_Missense_Mutation_p.S728N|BRD2_ENST00000395287.1_Missense_Mutation_p.S810N|BRD2_ENST00000374831.4_Missense_Mutation_p.S775N|BRD2_ENST00000395289.2_Missense_Mutation_p.S810N	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	775	Poly-Ser.|Ser-rich.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TCACGCCTTAGCGCTTCCAGC	0.507																																																	0								ENSG00000204256						109	90	97					6																	32948413		1511	2709	4220	BRD2	SO:0001583	missense	0			-	HGNC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2324G>A	6.37:g.32948413G>A	ENSP00000363958:p.Ser775Asn	Somatic	0	62	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S810N	ENST00000374825.4	37	c.2429	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.844251|3.844251	0.71488|0.71488	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92	6.15|6.15	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.44808|0.44808	0.1311|0.1311	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.981	.|D;D	.|0.70227	.|0.968;0.932	T|T	0.36841|0.36841	-0.9731|-0.9731	5|10	.|0.62326	.|D	.|0.03	-10.456|-10.456	14.0664|14.0664	0.64831|0.64831	0.0:0.0:0.8487:0.1513|0.0:0.0:0.8487:0.1513	.|.	.|810;775	.|A2AAU0;P25440	.|.;BRD2_HUMAN	T|N	781|775;775;810;655;810;728	.|ENSP00000363958:S775N;ENSP00000363964:S775N;ENSP00000378704:S810N;ENSP00000413495:S655N;ENSP00000378702:S810N;ENSP00000409145:S728N	.|ENSP00000363958:S775N	A|S	+|+	1|2	0|0	BRD2|BRD2	33056391|33056391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.787000|6.787000	0.75099|0.75099	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	GCG|AGC	-	NULL		0.507	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	protein_coding	OTTHUMT00000076503.2	G		-		32948413	1	no_errors	ENST00000395289	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32948413	G	A	32948413	3	1	185	1	0	0	0	0	1	0	0	0	1504	971	34	2	2370	2	BRD2	6	32948413	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		32948413	138166654	15	12868											
IKZF1	10320	genome.wustl.edu	37	chr7	50467870	50467870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accactcggcccaggacagcGccgtggagaacctgctgctg	13	15	0	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr7:50467870G>A	ENST00000331340.3	+	8	1260	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.A282T|IKZF1_ENST00000359197.5_Missense_Mutation_p.A327T|IKZF1_ENST00000357364.4_Missense_Mutation_p.A282T|IKZF1_ENST00000438033.1_Missense_Mutation_p.A282T|IKZF1_ENST00000349824.4_Missense_Mutation_p.A226T|IKZF1_ENST00000346667.4_Missense_Mutation_p.A139T|IKZF1_ENST00000439701.1_Missense_Mutation_p.A327T	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)	369					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.?(28)		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)				CCAGGACAGCGCCGTGGAGAA	0.687			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)						ENSG00000185811						12	17	15					7																	50467870		2005	4131	6136	IKZF1	SO:0001583	missense	0			-	HGNC	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.1105G>A	7.37:g.50467870G>A	ENSP00000331614:p.Ala369Thr	Somatic	0	49	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A369T	ENST00000331340.3	37	c.1105		7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765959	0.90020	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06371	4.68;3.31;3.4;4.4;3.48;3.39;3.31;3.4	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.983;0.999	D;D;D;P;D	0.91635	0.998;0.977;0.999;0.566;0.996	T	0.00321	-1.1819	9	0.33940	T	0.23	-13.6853	19.1852	0.93641	0.0:0.0:1.0:0.0	.	282;139;282;327;369	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	T	139;282;327;226;282;369;282;327	ENSP00000340080:A139T;ENSP00000342750:A282T;ENSP00000352123:A327T;ENSP00000342485:A226T;ENSP00000349928:A282T;ENSP00000331614:A369T;ENSP00000396554:A282T;ENSP00000413025:A327T	ENSP00000331614:A369T	A	+	1	0	IKZF1	50435364	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.543000	0.85770	0.585000	0.79938	GCC	-	NULL		0.687	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	protein_coding	OTTHUMT00000342242.1	G	NM_006060	-		50467870	1	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50467870	G	A	50467870	3	1	185	1	0	0	0	0	1	0	0	0	7616	1087	38	1	1131	1	IKZF1	7	50467870	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		50467870	108670793	16	12869											
ATP5J2	9551	genome.wustl.edu	37	chr7	99063734	99063734	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggagtccaaacagccttacCtggggccggacactcaccaa	10	15	1	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr7:99063734C>G	ENST00000292475.3	-	1	220	c.31G>C	c.(31-33)Gta>Cta	p.V11L	ATP5J2_ENST00000449683.1_Intron|ATP5J2_ENST00000394186.3_Intron|ATP5J2_ENST00000488775.1_Intron|ATP5J2_ENST00000466753.1_5'UTR|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000359832.4_Splice_Site_p.V11L|ATP5J2-PTCD1_ENST00000413834.1_Intron	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	11					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	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)					ACAGCCTTACCTGGGGCCGGA	0.642																																																	0								ENSG00000241468						91	83	86					7																	99063734		2203	4300	6503	ATP5J2	SO:0001630	splice_region_variant	0			-	HGNC	AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	848	protein-coding gene	gene with protein product	"F1Fo-ATPase synthase f subunit", "ATP synthase f chain, mitochondrial", "F1Fo-ATP synthase complex Fo membrane domain f subunit"		"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.31+1G>C	7.37:g.99063734C>G		Somatic	0	76	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP							pfam_F1F0-ATPsyn_F_prd	p.V11L	ENST00000292475.3	37	c.31	CCDS5665.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.282638|1.282638	0.23392|0.23392	.|.	.|.	ENSG00000241468|ENSG00000241468	ENST00000523680|ENST00000359832;ENST00000292475	.|.	.|.	.|.	2.22|2.22	-1.57|-1.57	0.08506|0.08506	.|.	.|0.327507	.|0.27181	.|N	.|0.020559	T|T	0.15825|0.15825	0.0381|0.0381	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B	.|0.14012	.|0.009;0.003	.|B;B	.|0.17979	.|0.013;0.02	T|T	0.12167|0.12167	-1.0558|-1.0558	4|7	.|.	.|.	.|.	.|.	2.4528|2.4528	0.04522|0.04522	0.2491:0.4313:0.0:0.3196|0.2491:0.4313:0.0:0.3196	.|.	.|11;11	.|F8W7V3;P56134	.|.;ATPK_HUMAN	R|L	11|11	.|.	.|.	G|V	-|-	1|1	0|0	ATP5J2|ATP5J2	98901670|98901670	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-1.589000|-1.589000	0.02104|0.02104	-0.600000|-0.600000	0.05790|0.05790	-0.300000|-0.300000	0.09419|0.09419	GGT|GTA	-	NULL		0.642	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	ATP5J2	protein_coding	OTTHUMT00000336263.1	C	NM_004889	-	Missense_Mutation	99063734	-1	no_errors	ENST00000292475	ensembl	human	known	74_37	missense	SNP	0.000	G	G	99063734	C	G	99063734	5	3	185	1	0	0	0	0	0	0	1	0	1159	695	24	4	298	4	ATP5J2	7	99063734	Splice_Site	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	48595864	99063734	60074929	17	12870											
SOX7	83595	genome.wustl.edu	37	chr8	10583914	10583914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgggcagggcagtgccGggggagtactcacccctgtc	17	12	1	0	rs563553563	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr8:10583914G>A	ENST00000304501.1	-	2	579	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SOX7_ENST00000553390.1_Silent_p.P219P|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Silent_p.P219P	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	167					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGCAGTGCCGGGGGAGTACT	0.726													G|||	2	0.000399361	0	0	5008	,	,		13044	0		0	False		,,,				2504	0.002																0								ENSG00000171056						16	17	16					8																	10583914		2202	4289	6491	SOX7	SO:0001819	synonymous_variant	0			-	HGNC	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.501C>T	8.37:g.10583914G>A		Somatic	0	38	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	B4DKV0|Q53YD0	Silent	SNP							pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.P219	ENST00000304501.1	37	c.657	CCDS5977.1	8																																																																																			-	NULL		0.726	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	protein_coding	OTTHUMT00000207131.1	G		-		10583914	-1	no_errors	ENST00000553390	ensembl	human	known	74_37	silent	SNP	0.000	A	A	10583914	G	A	10583914	2	1	185	1	0	0	0	0	0	0	0	1	14964	1103	39	1		1	SOX7	8	10583914	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		10583914	135780108	18	12871											
CSGALNACT1	55790	genome.wustl.edu	37	chr8	19297416	19297416	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaacaacagtgagatggactCtcccatcctgctcaatgcac	7	13	2	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr8:19297416C>G	ENST00000454498.2	-	6	1891	c.878G>C	c.(877-879)aGa>aCa	p.R293T	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	293					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGATGGACTCTCCCATCCTG	0.413																																																	0								ENSG00000147408						147	122	130					8																	19297416		2203	4300	6503	CSGALNACT1	SO:0001583	missense	0			-	HGNC	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.878G>C	8.37:g.19297416C>G	ENSP00000411816:p.Arg293Thr	Somatic	0	83	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP							pfam_Chond_GalNAc	p.R293T	ENST00000454498.2	37	c.878	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598625	0.87055	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.88640	2.97	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.70114	-0.4961	10	0.52906	T	0.07	-30.4119	17.3485	0.87316	0.0:1.0:0.0:0.0	.	293	Q8TDX6	CGAT1_HUMAN	T	293	ENSP00000411816:R293T;ENSP00000330805:R293T;ENSP00000310891:R293T;ENSP00000429809:R293T;ENSP00000442155:R293T	ENSP00000310891:R293T	R	-	2	0	CSGALNACT1	19341696	1.000000	0.71417	0.974000	0.42286	0.964000	0.63967	4.569000	0.60865	2.697000	0.92050	0.655000	0.94253	AGA	-	pfam_Chond_GalNAc		0.413	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	protein_coding	OTTHUMT00000375204.1	C	NM_018371	-		19297416	-1	no_errors	ENST00000311540	ensembl	human	known	74_37	missense	SNP	1.000	G	G	19297416	C	G	19297416	3	3	185	1	0	0	0	0	1	0	0	0	3940	913	32	4	740	4	CSGALNACT1	8	19297416	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	8713502	19297416	127066606	19	12872											
ELP3	55140	genome.wustl.edu	37	chr8	28017900	28017900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgggtggaggtgtctccaTagtacgagagctgcatgtgt	15	6	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr8:28017900T>C	ENST00000256398.8	+	13	1789	c.1412T>C	c.(1411-1413)aTa>aCa	p.I471T	ELP3_ENST00000380353.4_Missense_Mutation_p.I379T|ELP3_ENST00000521015.1_Missense_Mutation_p.I457T|ELP3_ENST00000537665.1_Missense_Mutation_p.I352T|ELP3_ENST00000524103.1_Missense_Mutation_p.I399T|ELP3_ENST00000542181.1_Missense_Mutation_p.I342T	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	471	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGTGTCTCCATAGTACGAGAG	0.458																																																	0								ENSG00000134014						159	134	143					8																	28017900		2203	4300	6503	ELP3	SO:0001583	missense	0			-	HGNC		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1412T>C	8.37:g.28017900T>C	ENSP00000256398:p.Ile471Thr	Somatic	0	46	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP							pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.I471T	ENST00000256398.8	37	c.1412	CCDS6065.1	8	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487537	0.84854	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.095415	0.64402	D	0.000001	T	0.78201	0.4246	M	0.92738	3.34	0.80722	D	1	P;P	0.46277	0.482;0.875	P;P	0.51550	0.474;0.673	D	0.83861	0.0268	9	0.87932	D	0	-15.5625	13.249	0.60041	0.0:0.0:0.0:1.0	.	352;471	B4DE19;Q9H9T3	.;ELP3_HUMAN	T	457;471;342;399;352;379;70	.	ENSP00000256398:I471T	I	+	2	0	ELP3	28073819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.975000	0.88055	2.057000	0.61298	0.533000	0.62120	ATA	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3		0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	protein_coding	OTTHUMT00000219963.2	T	NM_018091	-		28017900	1	no_errors	ENST00000256398	ensembl	human	known	74_37	missense	SNP	1.000	C	C	28017900	T	C	28017900	3	2	185	1	0	0	0	0	1	0	0	0	5083	1406	49	5	1462	5	ELP3	8	28017900	Missense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09	8720484	28017900	118346122	20	12873											
CEP110	11064	genome.wustl.edu	37	chr9	123921164	123921164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggagatggctgtctTggacaggcagttagggcata	16	7	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:123921164T>C	ENST00000373855.1	+	31	5056	c.4796T>C	c.(4795-4797)tTg>tCg	p.L1599S	CNTRL_ENST00000373844.1_Missense_Mutation_p.L44S|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1047S|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1599S			Q7Z7A1	CNTRL_HUMAN	centriolin	1599					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGGCTGTCTTGGACAGGCAG	0.498																																																	0								ENSG00000119397						137	139	138					9																	123921164		2203	4300	6503	CNTRL	SO:0001583	missense	0			-	HGNC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4796T>C	9.37:g.123921164T>C	ENSP00000362962:p.Leu1599Ser	Somatic	0	91	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.L1599S	ENST00000373855.1	37	c.4796	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371070	0.82573	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000431571;ENST00000373845;ENST00000373844	T;T;T	0.28069	1.63;1.63;1.63	5.64	5.64	0.86602	.	.	.	.	.	T	0.51346	0.1669	M	0.63843	1.955	0.41341	D	0.987302	D	0.76494	0.999	D	0.66716	0.946	T	0.49184	-0.8966	9	0.42905	T	0.14	.	15.3422	0.74306	0.0:0.0:0.0:1.0	.	1599	Q7Z7A1	CNTRL_HUMAN	S	1599;1599;1599;355;1047;268;281;44	ENSP00000362962:L1599S;ENSP00000238341:L1599S;ENSP00000362956:L1047S	ENSP00000238341:L1599S	L	+	2	0	CNTRL	122960985	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	5.900000	0.69853	2.275000	0.75901	0.528000	0.53228	TTG	-	NULL		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	protein_coding	OTTHUMT00000250216.1	T	NM_007018	-		123921164	1	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	SNP	0.997	C	C	123921164	T	C	123921164	3	2	185	1	0	0	0	0	1	0	0	0	3247	1821	63	5	4910	5	CEP110	9	123921164	Missense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09		123921164	17292267	21	12874											
PIP5KL1	138429	genome.wustl.edu	37	chr9	130687388	130687388	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtgggaggctcacctGgccgtgcggaagatgaggct	16	12	1	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:130687388G>T	ENST00000388747.4	-	9	959	c.915C>A	c.(913-915)gcC>gcA	p.A305A	PIP5KL1_ENST00000490773.1_5'Flank|PIP5KL1_ENST00000300432.3_Silent_p.A102A	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	305	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGGCTCACCTGGCCGTGCGGA	0.617																																																	0								ENSG00000167103						72	77	75					9																	130687388		2203	4300	6503	PIP5KL1	SO:0001819	synonymous_variant	0			-	HGNC	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.915C>A	9.37:g.130687388G>T		Somatic	0	160	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8IVS3	Silent	SNP							pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A102	ENST00000388747.4	37	c.306	CCDS48030.1	9																																																																																			-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.617	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	protein_coding	OTTHUMT00000054289.2	G	NM_173492	-		130687388	-1	no_errors	ENST00000300432	ensembl	human	known	74_37	silent	SNP	0.960	T	T	130687388	G	T	130687388	2	4	185	1	0	0	0	0	0	0	0	1	11944	1335	47	3		3	PIP5KL1	9	130687388	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	6766224	130687388	10526043	22	12875											
LRRC8A	56262	genome.wustl.edu	37	chr9	131670725	131670725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaacgcgcaggacaagCtggagctgcacctgttcatg	12	12	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:131670725C>T	ENST00000259324.5	+	3	1805	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	LRRC8A_ENST00000372599.3_Silent_p.L428L|LRRC8A_ENST00000372600.4_Silent_p.L428L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	428					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCAGGACAAGCTGGAGCTGCA	0.597																																																	0								ENSG00000136802						41	39	40					9																	131670725		2203	4300	6503	LRRC8A	SO:0001819	synonymous_variant	0			-	HGNC	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1282C>T	9.37:g.131670725C>T		Somatic	0	55	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L428	ENST00000259324.5	37	c.1282	CCDS35155.1	9																																																																																			-	NULL		0.597	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	protein_coding	OTTHUMT00000054516.2	C	NM_019594	-		131670725	1	no_errors	ENST00000259324	ensembl	human	known	74_37	silent	SNP	1.000	T	T	131670725	C	T	131670725	2	4	185	1	0	0	0	0	0	0	0	1	9023	796	28	2		2	LRRC8A	9	131670725	Silent	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	983337	131670725	9542706	23	12876											
C9orf86	55684	genome.wustl.edu	37	chr9	139733681	139733681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccacaaaggtcctccAtaccagcttcgaagccacgg	8	15	0	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:139733681A>C	ENST00000311502.7	+	12	1737	c.1501A>C	c.(1501-1503)Ata>Cta	p.I501L	RABL6_ENST00000371663.4_Missense_Mutation_p.I502L|RABL6_ENST00000371675.3_Missense_Mutation_p.I386L|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	501					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AAGGTCCTCCATACCAGCTTC	0.672																																																	0								ENSG00000196642						15	20	19					9																	139733681		2019	4169	6188	RABL6	SO:0001583	missense	0			-	HGNC	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1501A>C	9.37:g.139733681A>C	ENSP00000311134:p.Ile501Leu	Somatic	0	107	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	27.69	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.I502L	ENST00000311502.7	37	c.1504	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	7.918	0.737911	0.15574	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;T	0.62941	0.01;0.01;0.01;-0.01	3.55	-0.239	0.13050	.	1.367080	0.04577	N	0.394260	T	0.34774	0.0909	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.26775	0.085;0.159;0.099	B;B;B	0.26517	0.039;0.07;0.032	T	0.18967	-1.0320	10	0.10111	T	0.7	-0.5247	6.6754	0.23092	0.6994:0.0:0.3006:0.0	.	295;502;501	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	L	502;501;386;295	ENSP00000360727:I502L;ENSP00000311134:I501L;ENSP00000360740:I386L;ENSP00000408442:I295L	ENSP00000311134:I501L	I	+	1	0	C9orf86	138853502	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.238000	0.09724	-1.756000	0.00673	ATA	-	NULL		0.672	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	protein_coding	OTTHUMT00000055141.4	A	NM_024718	-		139733681	1	no_errors	ENST00000371663	ensembl	human	known	74_37	missense	SNP	0.178	C	C	139733681	A	C	139733681	3	2	185	1	0	0	0	0	1	0	0	0	2504	217	8	5	1794	5	C9orf86	9	139733681	Missense_Mutation	SNP	A	TCGA-MJ-A68H-01A-11D-A307-09	8062956	139733681	1479750	24	12877											
PNPLA7	375775	genome.wustl.edu	37	chr9	140437933	140437933	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgatggcaggtgagaattctTcacgtcaaactccgtgaggt	12	9	3	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:140437933T>A	ENST00000277531.4	-	5	568	c.382A>T	c.(382-384)Aag>Tag	p.K128*	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Nonsense_Mutation_p.K153*	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	128					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)			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)		TGAGAATTCTTCACGTCAAAC	0.612																																																	0								ENSG00000130653						60	63	62					9																	140437933		2203	4300	6503	PNPLA7	SO:0001587	stop_gained	0			-	HGNC	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.382A>T	9.37:g.140437933T>A	ENSP00000277531:p.Lys128*	Somatic	0	93	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Nonsense_Mutation	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.K153*	ENST00000277531.4	37	c.457	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	T	38	6.966459	0.97967	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	.	.	.	4.19	3.0	0.34707	.	0.245916	0.41194	D	0.000925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6334	10.0367	0.42133	0.0:0.0:0.1702:0.8298	.	.	.	.	X	128;153;128;119;153	.	ENSP00000277531:K128X	K	-	1	0	PNPLA7	139557754	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	1.453000	0.35167	0.551000	0.29008	0.460000	0.39030	AAG	-	NULL		0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	T	NM_152286	-		140437933	-1	no_errors	ENST00000406427	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	140437933	T	A	140437933	4	1	185	1	0	0	0	0	0	1	0	0	12172	1792	62	5	3691	5	PNPLA7	9	140437933	Nonsense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09	704252	140437933	775498	25	12878											
OR51Q1	390061	genome.wustl.edu	37	chr11	5444200	5444200	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcctctacattcccaTggttggtgtatctatgactc	8	12	2	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:5444200T>A	ENST00000300778.4	+	1	860	c.770T>A	c.(769-771)aTg>aAg	p.M257K	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACATTCCCATGGTTGGTGTA	0.527																																																	0								ENSG00000167360						135	111	119					11																	5444200		2201	4297	6498	OR51Q1	SO:0001583	missense	0			-	HGNC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.770T>A	11.37:g.5444200T>A	ENSP00000300778:p.Met257Lys	Somatic	0	64	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B2RNN1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M257K	ENST00000300778.4	37	c.770	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219598	0.58560	.	.	ENSG00000167360	ENST00000300778	T	0.37235	1.21	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.178939	0.40908	D	0.000993	T	0.53642	0.1809	M	0.81802	2.56	0.34107	D	0.662568	D	0.53151	0.958	P	0.57244	0.816	T	0.70088	-0.4968	10	0.66056	D	0.02	.	9.0536	0.36392	0.0:0.0865:0.0:0.9135	.	257	Q8NH59	O51Q1_HUMAN	K	257	ENSP00000300778:M257K	ENSP00000300778:M257K	M	+	2	0	OR51Q1	5400776	0.000000	0.05858	1.000000	0.80357	0.506000	0.33950	0.380000	0.20602	2.133000	0.65898	0.311000	0.20440	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	protein_coding	OTTHUMT00000143373.1	T	NM_001004757	-		5444200	1	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	SNP	0.878	A	A	5444200	T	A	5444200	3	1	185	1	0	0	0	0	1	0	0	0	11106	1464	51	5	772	5	OR51Q1	11	5444200	Missense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09		5444200	129562316	26	12879											
SAA4	6291	genome.wustl.edu	37	chr11	18257399	18257399	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccttggagagcctccttGaaaaacgaacgccagctttc	8	12	0	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:18257399G>A	ENST00000278222.4	-	2	255	c.75C>T	c.(73-75)ttC>ttT	p.F25F	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	25					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GAGCCTCCTTGAAAAACGAAC	0.502																																																	0								ENSG00000148965						132	127	129					11																	18257399		2199	4293	6492	SAA4	SO:0001819	synonymous_variant	0			-	HGNC	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.75C>T	11.37:g.18257399G>A		Somatic	0	63	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	Q6FHJ4	Silent	SNP							pfam_Serum_amyloid_A,superfamily_Actin_cross-linking,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.F25	ENST00000278222.4	37	c.75	CCDS7832.1	11																																																																																			-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A		0.502	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA4	protein_coding	OTTHUMT00000389988.1	G	NM_006512	-		18257399	-1	no_errors	ENST00000278222	ensembl	human	known	74_37	silent	SNP	0.001	A	A	18257399	G	A	18257399	2	1	185	1	0	0	0	0	0	0	0	1	13808	1281	45	2		2	SAA4	11	18257399	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	12813199	18257399	116749117	27	12880											
CTNND1	1500	genome.wustl.edu	37	chr11	57576833	57576833	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctgaggacactgtcatctCtattttgaacactatcaacg	6	11	4	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:57576833C>G	ENST00000399050.4	+	15	2866	c.2330C>G	c.(2329-2331)tCt>tGt	p.S777C	CTNND1_ENST00000529919.1_Missense_Mutation_p.S777C|CTNND1_ENST00000361332.4_Missense_Mutation_p.S771C|CTNND1_ENST00000532463.1_Missense_Mutation_p.S670C|CTNND1_ENST00000361391.6_Missense_Mutation_p.S771C|CTNND1_ENST00000529986.1_Missense_Mutation_p.S670C|CTNND1_ENST00000532844.1_Missense_Mutation_p.S723C|CTNND1_ENST00000528621.1_Missense_Mutation_p.S717C|CTNND1_ENST00000360682.6_Missense_Mutation_p.S777C|CTNND1_ENST00000528232.1_Missense_Mutation_p.S676C|CTNND1_ENST00000399039.4_Missense_Mutation_p.S777C|CTNND1_ENST00000532649.1_Missense_Mutation_p.S717C|CTNND1_ENST00000525902.1_Missense_Mutation_p.S454C|CTNND1_ENST00000529873.1_Missense_Mutation_p.S717C|CTNND1_ENST00000361796.4_Missense_Mutation_p.S771C|CTNND1_ENST00000428599.2_Missense_Mutation_p.S771C|CTNND1_ENST00000530094.1_Missense_Mutation_p.S670C|CTNND1_ENST00000534579.1_Missense_Mutation_p.S717C|CTNND1_ENST00000533667.1_Missense_Mutation_p.S448C|CTNND1_ENST00000527467.1_Missense_Mutation_p.S454C|CTNND1_ENST00000530748.1_Missense_Mutation_p.S723C|CTNND1_ENST00000532245.1_Missense_Mutation_p.S670C|CTNND1_ENST00000358694.6_Missense_Mutation_p.S771C|CTNND1_ENST00000529526.1_Missense_Mutation_p.S717C|CTNND1_ENST00000526772.1_Missense_Mutation_p.S448C|CTNND1_ENST00000524630.1_Missense_Mutation_p.S771C|CTNND1_ENST00000526357.1_Missense_Mutation_p.S717C|CTNND1_ENST00000415361.2_Missense_Mutation_p.S676C|CTNND1_ENST00000531014.1_Missense_Mutation_p.S448C|CTNND1_ENST00000526938.1_Missense_Mutation_p.S777C|CTNND1_ENST00000532787.1_Missense_Mutation_p.S670C|CTNND1_ENST00000426142.2_Missense_Mutation_p.S670C	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	777					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACTGTCATCTCTATTTTGAAC	0.428																																																	0								ENSG00000198561						97	97	97					11																	57576833		1882	4103	5985	CTNND1	SO:0001583	missense	0			-	HGNC	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2330C>G	11.37:g.57576833C>G	ENSP00000382004:p.Ser777Cys	Somatic	0	113	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S777C	ENST00000399050.4	37	c.2330	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432779	0.62844	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.120255	0.64402	D	0.000017	T	0.48537	0.1505	L	0.49126	1.545	0.49389	D	0.999788	B;B;B;B;B;B;B;B;B	0.31611	0.119;0.119;0.073;0.119;0.119;0.119;0.331;0.119;0.073	B;B;B;B;B;B;B;B;B	0.38056	0.049;0.049;0.022;0.049;0.049;0.049;0.264;0.049;0.022	T	0.46133	-0.9213	10	0.48119	T	0.1	-1.0894	14.9832	0.71327	0.0:0.8577:0.1423:0.0	.	777;771;777;670;717;717;771;777;777	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	C	771;777;777;777;771;717;670;777;771;771;670;670;771;670;448;717;717;723;771;454;676;448;448;717;454;723;717;670;676;670;717;777	ENSP00000436543:S771C;ENSP00000434808:S777C;ENSP00000381996:S777C;ENSP00000353902:S777C;ENSP00000354907:S771C;ENSP00000436323:S717C;ENSP00000409930:S670C;ENSP00000382004:S777C;ENSP00000354785:S771C;ENSP00000354823:S771C;ENSP00000432075:S670C;ENSP00000437156:S670C;ENSP00000351527:S771C;ENSP00000434949:S670C;ENSP00000437051:S448C;ENSP00000435379:S717C;ENSP00000432243:S717C;ENSP00000436744:S723C;ENSP00000413586:S771C;ENSP00000434900:S454C;ENSP00000435266:S676C;ENSP00000432623:S448C;ENSP00000433158:S448C;ENSP00000435494:S717C;ENSP00000434672:S454C;ENSP00000433276:S723C;ENSP00000433334:S717C;ENSP00000437327:S670C;ENSP00000403518:S676C;ENSP00000434017:S670C;ENSP00000435789:S717C;ENSP00000432041:S777C	ENSP00000351527:S771C	S	+	2	0	CTNND1	57333409	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.696000	0.68287	2.692000	0.91855	0.655000	0.94253	TCT	-	superfamily_ARM-type_fold		0.428	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	protein_coding	OTTHUMT00000393944.1	C	NM_001331	-		57576833	1	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	SNP	0.998	G	G	57576833	C	G	57576833	3	3	185	1	0	0	0	0	1	0	0	0	4021	913	32	4	2380	4	CTNND1	11	57576833	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	39319434	57576833	77429683	28	12881											
MARK2	283248	genome.wustl.edu	37	chr11	63676504	63676504	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggtgctggacgcgaAcagctgccagagcgagctgc	15	13	0	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:63676504A>G	ENST00000301459.4	-	0	2604				MARK2_ENST00000509502.2_Missense_Mutation_p.N678S|MARK2_ENST00000402010.2_Missense_Mutation_p.N721S|MARK2_ENST00000502399.3_Missense_Mutation_p.N711S|MARK2_ENST00000408948.3_Missense_Mutation_p.N624S|MARK2_ENST00000350490.7_Missense_Mutation_p.N642S|MARK2_ENST00000413835.2_Missense_Mutation_p.N667S|MARK2_ENST00000361128.5_Missense_Mutation_p.N652S|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000425897.2_Missense_Mutation_p.N632S|MARK2_ENST00000513765.2_Missense_Mutation_p.N688S|MARK2_ENST00000377809.4_Missense_Mutation_p.N706S|MARK2_ENST00000508192.1_Missense_Mutation_p.N657S|MARK2_ENST00000377810.3_Missense_Mutation_p.N624S|MARK2_ENST00000315032.8_Missense_Mutation_p.N712S	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGGACGCGAACAGCTGCCAG	0.617																																																	0								ENSG00000072518						76	64	68					11																	63676504		2201	4297	6498	MARK2	SO:0001628	intergenic_variant	0			-	HGNC	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676504A>G		Somatic	0	62	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q96FP3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N721S	ENST00000301459.4	37	c.2162	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735088	0.69189	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.43	3.28	0.37604	Kinase-associated KA1 (2);	0.055716	0.64402	D	0.000002	T	0.70263	0.3204	M	0.79805	2.47	0.53688	D	0.999975	D;P;D;D;D;D	0.89917	1.0;0.909;0.969;0.996;1.0;1.0	D;P;D;D;D;D	0.91635	0.999;0.646;0.918;0.98;0.999;0.999	T	0.71550	-0.4559	10	0.62326	D	0.03	.	9.7831	0.40660	0.8456:0.0:0.0:0.1544	.	632;678;642;652;721;657	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	721;712;706;667;624;657;652;642;713;678;688;624;632	ENSP00000385751:N721S;ENSP00000326632:N712S;ENSP00000367040:N706S;ENSP00000389184:N667S;ENSP00000367041:N624S;ENSP00000425765:N657S;ENSP00000355091:N652S;ENSP00000294247:N642S;ENSP00000423974:N678S;ENSP00000421075:N688S;ENSP00000386128:N624S;ENSP00000415494:N632S	ENSP00000326632:N712S	N	+	2	0	MARK2	63433080	1.000000	0.71417	0.662000	0.29724	0.992000	0.81027	7.322000	0.79097	0.827000	0.34685	0.454000	0.30748	AAC	-	superfamily_KA1/Ssp2_C		0.617	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK2	protein_coding	OTTHUMT00000318233.1	A	NM_173587	-		63676504	1	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	SNP	1.000	G	G	63676504	A	G	63676504	1	3	185	0	1	0	0	0	0	0	0	0	9315	43	2	5		5	MARK2	11	63676504	IGR	SNP	A	TCGA-MJ-A68H-01A-11D-A307-09	6099671	63676504	71330012	29	12882											
MLL	4297	genome.wustl.edu	37	chr11	118375819	118375819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgtccagaccactcCaccccacctgaagccagcca	7	19	0	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:118375819C>T	ENST00000389506.5	+	27	9203	c.9203C>T	c.(9202-9204)cCa>cTa	p.P3068L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3030L|KMT2A_ENST00000534358.1_Missense_Mutation_p.P3071L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3068					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGACCACTCCACCCCACCTG	0.483																																																	0								ENSG00000118058						99	98	98					11																	118375819		2200	4295	6495	KMT2A	SO:0001583	missense	0			-	HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9203C>T	11.37:g.118375819C>T	ENSP00000374157:p.Pro3068Leu	Somatic	0	68	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P3068L	ENST00000389506.5	37	c.9203	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728226	0.48833	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85556	-1.99;-2.0;-1.95	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.40543	1.245	0.80722	D	1	P;P	0.42409	0.779;0.779	B;B	0.32149	0.141;0.141	T	0.82600	-0.0377	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3071;3068	E9PQG7;Q03164	.;MLL1_HUMAN	L	3071;3068;3030;1978	ENSP00000436786:P3071L;ENSP00000374157:P3068L;ENSP00000346516:P3030L	ENSP00000346516:P3030L	P	+	2	0	MLL	117881029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.922000	0.70036	2.894000	0.99253	0.591000	0.81541	CCA	-	pirsf_MeTrfase_trithorax		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	C	NM_005933	-		118375819	1	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118375819	C	T	118375819	3	4	185	1	0	0	0	0	1	0	0	0	9622	594	21	2	9309	2	MLL	11	118375819	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	54699315	118375819	16630697	30	12883											
PLEKHG6	55200	genome.wustl.edu	37	chr12	6437022	6437022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggggccgaggagccccGggacagcaggccacggaagc	19	12	0	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:6437022G>A	ENST00000396988.3	+	15	2503	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R726Q|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R288Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R758Q	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	758						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGGAGCCCCGGGACAGCAGG	0.662																																																	0								ENSG00000008323						9	12	11					12																	6437022		2193	4280	6473	PLEKHG6	SO:0001583	missense	0			-	HGNC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2273G>A	12.37:g.6437022G>A	ENSP00000380185:p.Arg758Gln	Somatic	0	82	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R758Q	ENST00000396988.3	37	c.2273	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	1.161	-0.643857	0.03531	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.62941	0.11;0.11;-0.01	4.74	1.91	0.25777	.	0.711693	0.12674	N	0.448526	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20472	-1.0274	10	0.45353	T	0.12	-0.2527	4.8245	0.13408	0.193:0.1763:0.6307:0.0	.	726;758	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	Q	758;758;726;288	ENSP00000011684:R758Q;ENSP00000380185:R758Q;ENSP00000393194:R726Q	ENSP00000011684:R758Q	R	+	2	0	PLEKHG6	6307283	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.027000	0.13621	0.232000	0.21100	-0.263000	0.10527	CGG	-	NULL		0.662	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	protein_coding	OTTHUMT00000399031.1	G	NM_018173	-		6437022	1	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	SNP	0.000	A	A	6437022	G	A	6437022	3	1	185	1	0	0	0	0	1	0	0	0	12076	1116	39	1	2373	1	PLEKHG6	12	6437022	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		6437022	127414873	31	12884											
TROAP	10024	genome.wustl.edu	37	chr12	49719940	49719940	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagacagctggcagcagcCggtgagaaaggagagggtgt	20	6	0	3	rs575346130	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:49719940C>T	ENST00000257909.3	+	6	791	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	TROAP_ENST00000551245.1_Splice_Site_p.R239W|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	239					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						TGGCAGCAGCCGGTGAGAAAG	0.542													C|||	4	0.000798722	8e-04	0	5008	,	,		19903	0.003		0	False		,,,				2504	0																0								ENSG00000135451						80	83	82					12																	49719940		2203	4300	6503	TROAP	SO:0001630	splice_region_variant	0			-	HGNC	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.716+1C>T	12.37:g.49719940C>T		Somatic	0	95	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	33.33	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP							NULL	p.R239W	ENST00000257909.3	37	c.715	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988971	0.74589	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	4.13	-1.14	0.09741	.	0.887874	0.09484	N	0.795925	T	0.43656	0.1257	L	0.42245	1.32	0.80722	D	1	B;B	0.20459	0.045;0.01	B;B	0.16722	0.016;0.007	T	0.39313	-0.9620	9	0.87932	D	0	-0.2037	2.982	0.05956	0.3636:0.3352:0.0:0.3012	.	239;239	F8W130;Q12815	.;TROAP_HUMAN	W	239;122;239;239	.	ENSP00000257909:R239W	R	+	1	2	TROAP	48006207	0.478000	0.25917	0.963000	0.40424	0.998000	0.95712	0.272000	0.18644	-0.209000	0.10156	0.655000	0.94253	CGG	-	NULL		0.542	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	protein_coding	OTTHUMT00000404300.1	C	NM_005480	-	Missense_Mutation	49719940	1	no_errors	ENST00000257909	ensembl	human	known	74_37	missense	SNP	0.965	T	T	49719940	C	T	49719940	5	4	185	1	0	0	0	0	0	0	1	0	16582	666	23	1	835	1	TROAP	12	49719940	Splice_Site	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	43282918	49719940	84131955	32	12885											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72030390	72030390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcacaggatgtgaattGttcagaactggaggtgaagg	15	5	1	3			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:72030390G>A	ENST00000378743.3	-	9	2338	c.1980C>T	c.(1978-1980)aaC>aaT	p.N660N	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	660					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						GATGTGAATTGTTCAGAACTG	0.393																																																	0								ENSG00000133858						162	152	155					12																	72030390		1900	4124	6024	ZFC3H1	SO:0001819	synonymous_variant	0			-	HGNC	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.1980C>T	12.37:g.72030390G>A		Somatic	0	152	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP							pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.N660	ENST00000378743.3	37	c.1980	CCDS41813.1	12																																																																																			-	NULL		0.393	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	G	NM_144982	-		72030390	-1	no_errors	ENST00000378743	ensembl	human	known	74_37	silent	SNP	1.000	A	A	72030390	G	A	72030390	2	1	185	1	0	0	0	0	0	0	0	1	17640	1368	48	2		2	ZFC3H1	12	72030390	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	22310450	72030390	61821505	33	12886											
GSTZ1	2954	genome.wustl.edu	37	chr14	77795516	77795516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcagctgacctgggcCcagaacgccatcacttgtgg	13	12	1	3			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr14:77795516C>T	ENST00000556627.1	+	5	443	c.312C>T	c.(310-312)gcC>gcT	p.A104A	GSTZ1_ENST00000553586.1_Silent_p.A132A|GSTZ1_ENST00000393734.1_Silent_p.A76A|GSTZ1_ENST00000554279.1_Silent_p.A117A|GSTZ1_ENST00000349555.3_Silent_p.A89A|GSTZ1_ENST00000216465.5_Silent_p.A131A|GSTZ1_ENST00000361389.4_Silent_p.A76A|GSTZ1_ENST00000557053.1_Silent_p.A34A|GSTZ1_ENST00000557639.1_Silent_p.A76A			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	131	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TGACCTGGGCCCAGAACGCCA	0.592																																																	0								ENSG00000100577						137	114	122					14																	77795516		2203	4300	6503	GSTZ1	SO:0001819	synonymous_variant	0			-	HGNC	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"Glutathione S-transferases / Soluble"	4643	protein-coding gene	gene with protein product	"maleylacetoacetate isomerase"	603758	"glutathione transferase zeta 1"			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.312C>T	14.37:g.77795516C>T		Somatic	0	87	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Silent	SNP							pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom	p.A131	ENST00000556627.1	37	c.393		14																																																																																			-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom		0.592	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	GSTZ1	protein_coding	OTTHUMT00000414090.1	C	NM_145870	-		77795516	1	no_errors	ENST00000216465	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77795516	C	T	77795516	2	4	185	1	0	0	0	0	0	0	0	1	6850	610	22	2		2	GSTZ1	14	77795516	Silent	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09		77795516	29554024	34	12887											
C14orf145	145508	genome.wustl.edu	37	chr14	81302669	81302669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttcgtaagttgtgtacGcagttcttctacctaacaca	7	10	2	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr14:81302669G>A	ENST00000555265.1	-	12	1312	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	CEP128_ENST00000281129.3_Missense_Mutation_p.R313C|CEP128_ENST00000216517.6_Missense_Mutation_p.R313C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	313						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R313C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTTGTGTACGCAGTTCTTCT	0.398																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000100629						247	208	222					14																	81302669		2203	4300	6503	CEP128	SO:0001583	missense	0			-	HGNC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.937C>T	14.37:g.81302669G>A	ENSP00000451162:p.Arg313Cys	Somatic	0	165	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	101	15.13	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP							NULL	p.R313C	ENST00000555265.1	37	c.937	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344473	0.61073	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	D;D;D	0.83163	-1.69;-1.69;-1.69	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.90184	0.6932	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.87578	0.87;0.998;0.992	D	0.90867	0.4743	10	0.72032	D	0.01	.	17.0005	0.86380	0.0:0.0:1.0:0.0	.	313;194;313	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	C	313	ENSP00000281129:R313C;ENSP00000451162:R313C;ENSP00000216517:R313C	ENSP00000216517:R313C	R	-	1	0	CEP128	80372422	1.000000	0.71417	0.930000	0.37139	0.378000	0.30076	4.113000	0.57851	2.606000	0.88127	0.655000	0.94253	CGT	-	NULL		0.398	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	protein_coding	OTTHUMT00000413415.1	G	NM_152446	-		81302669	-1	no_errors	ENST00000281129	ensembl	human	known	74_37	missense	SNP	0.993	A	A	81302669	G	A	81302669	3	1	185	1	0	0	0	0	1	0	0	0	1751	1087	38	1	2403	1	C14orf145	14	81302669	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	3507153	81302669	26046871	35	12888											
NARG2	79664	genome.wustl.edu	37	chr15	60720639	60720639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcttaccttttgttgtgTtgtggtatccagtgatttcg	10	6	1	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr15:60720639T>C	ENST00000261520.4	-	15	3043	c.2809A>G	c.(2809-2811)Aca>Gca	p.T937A	NARG2_ENST00000439632.1_Missense_Mutation_p.T800A	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTTTGTTGTGTTGTGGTATCC	0.373																																																	0								ENSG00000128915						128	122	124					15																	60720639		2203	4300	6503	NARG2	SO:0001583	missense	0			-	HGNC																												ENST00000261520.4:c.2809A>G	15.37:g.60720639T>C	ENSP00000261520:p.Thr937Ala	Somatic	0	171	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	77	23.76		Missense_Mutation	SNP							pfam_NARG2_C	p.T937A	ENST00000261520.4	37	c.2809	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	T	6.433	0.447967	0.12223	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.57	-11.1	0.00147	.	1.396580	0.04430	N	0.368982	T	0.08935	0.0221	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.02654	T	1	0.2994	4.4482	0.11607	0.2816:0.4497:0.0941:0.1746	.	937	Q659A1	NARG2_HUMAN	A	937;800	.	ENSP00000261520:T937A	T	-	1	0	NARG2	58507931	0.000000	0.05858	0.001000	0.08648	0.688000	0.40055	-1.401000	0.02502	-2.349000	0.00618	-0.361000	0.07541	ACA	-	NULL		0.373	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	protein_coding	OTTHUMT00000256136.1	T		-		60720639	-1	no_errors	ENST00000261520	ensembl	human	known	74_37	missense	SNP	0.000	C	C	60720639	T	C	60720639	3	2	185	1	0	0	0	0	1	0	0	0	10171	1725	60	5	147	5	NARG2	15	60720639	Missense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09		60720639	41810753	36	12889											
C15orf26	161502	genome.wustl.edu	37	chr15	81440868	81440868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccatgggccttgacacGcagtaacacgccaggcacgt	12	14	0	1	rs371766165		TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr15:81440868G>A	ENST00000286732.4	+	7	983	c.900G>A	c.(898-900)acG>acA	p.T300T		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	300										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GCCTTGACACGCAGTAACACG	0.517																																																	0								ENSG00000156206	G		0,4084		0,0,2042	71	70	71		900	-1.1	0	15		71	1,8349		0,1,4174	no	coding-synonymous	C15orf26	NM_173528.2		0,1,6216	AA,AG,GG		0.012,0.0,0.0080		300/302	81440868	1,12433	2042	4175	6217	C15orf26	SO:0001819	synonymous_variant	0			-	HGNC	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.900G>A	15.37:g.81440868G>A		Somatic	0	99	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	Q8N906	Silent	SNP							NULL	p.T300	ENST00000286732.4	37	c.900	CCDS42068.1	15																																																																																			-	NULL		0.517	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	C15orf26	protein_coding	OTTHUMT00000417587.1	G	NM_173528	-		81440868	1	no_errors	ENST00000286732	ensembl	human	known	74_37	silent	SNP	0.000	A	A	81440868	G	A	81440868	2	1	185	1	0	0	0	0	0	0	0	1	1789	1074	38	1		1	C15orf26	15	81440868	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	20720229	81440868	21090524	37	12890											
PARN	5073	genome.wustl.edu	37	chr16	14711476	14711476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactttattaaaatcaaatCcctggcttgctagaaagtca	5	8	2	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:14711476C>T	ENST00000437198.2	-	6	500	c.359G>A	c.(358-360)gGa>gAa	p.G120E	PARN_ENST00000566021.1_Intron|PARN_ENST00000420015.2_Missense_Mutation_p.G74E|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.G59E	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	120					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.G120E(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AAAATCAAATCCCTGGCTTGC	0.368																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000140694						68	65	66					16																	14711476		1824	4084	5908	PARN	SO:0001583	missense	0			-	HGNC	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.359G>A	16.37:g.14711476C>T	ENSP00000387911:p.Gly120Glu	Somatic	0	161	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	54	46.53	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP							pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.G120E	ENST00000437198.2	37	c.359	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.091526	0.94149	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.95	5.95	0.96441	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.84948	2.725	0.80722	D	1	D;D	0.64830	0.991;0.994	D;D	0.64595	0.927;0.919	T	0.64715	-0.6342	10	0.72032	D	0.01	-20.7403	19.3813	0.94536	0.0:1.0:0.0:0.0	.	74;120	B4DWR4;O95453	.;PARN_HUMAN	E	120;59;74;103	ENSP00000387911:G120E;ENSP00000345456:G59E;ENSP00000410525:G74E;ENSP00000445659:G103E	ENSP00000345456:G59E	G	-	2	0	PARN	14618977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.730000	0.74780	2.824000	0.97209	0.655000	0.94253	GGA	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.368	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	protein_coding	OTTHUMT00000422383.1	C	NM_002582	-		14711476	-1	no_errors	ENST00000437198	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14711476	C	T	14711476	3	4	185	1	0	0	0	0	1	0	0	0	11455	855	30	2	1636	2	PARN	16	14711476	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09		14711476	75643277	38	12891											
ABCC6	368	genome.wustl.edu	37	chr16	16244584	16244584	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aggatgaggatctgggtcttCcggagaagggcacgtgccag	17	8	2	2	rs58668703	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:16244584C>G	ENST00000205557.7	-	30	4283	c.4254G>C	c.(4252-4254)cgG>cgC	p.R1418R		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1418	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCTGGGTCTTCCGGAGAAGGG	0.607																																																	0								ENSG00000091262						45	39	41					16																	16244584		2197	4300	6497	ABCC6	SO:0001819	synonymous_variant	0			-	HGNC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4254G>C	16.37:g.16244584C>G		Somatic	0	50	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	15	53.12	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R1418	ENST00000205557.7	37	c.4254	CCDS10568.1	16																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.607	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	C		-		16244584	-1	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	SNP	1.000	G	G	16244584	C	G	16244584	2	3	185	1	0	0	0	0	0	0	0	1	57	842	30	4		4	ABCC6	16	16244584	Silent	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	1533108	16244584	74110169	39	12892											
C16orf78	123970	genome.wustl.edu	37	chr16	49411650	49411650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttttcagaagcaaaaGcccaaagtggtgacagtcct	9	9	2	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:49411650G>T	ENST00000299191.3	+	2	276	c.159G>T	c.(157-159)aaG>aaT	p.K53N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	53						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGAAGCAAAAGCCCAAAGTGG	0.557																																																	0								ENSG00000166152						51	49	50					16																	49411650		2199	4300	6499	C16orf78	SO:0001583	missense	0			-	HGNC	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.159G>T	16.37:g.49411650G>T	ENSP00000299191:p.Lys53Asn	Somatic	0	33	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75		Missense_Mutation	SNP							NULL	p.K53N	ENST00000299191.3	37	c.159	CCDS10738.1	16	.	.	.	.	.	.	.	.	.	.	G	13.09	2.131976	0.37630	.	.	ENSG00000166152	ENST00000299191	T	0.50548	0.74	3.12	-0.341	0.12639	.	0.389535	0.18855	N	0.129295	T	0.47764	0.1463	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32981	-0.9886	9	.	.	.	-20.4332	5.7666	0.18229	0.4592:0.0:0.5408:0.0	.	53	Q8WTQ4	CP078_HUMAN	N	53	ENSP00000299191:K53N	.	K	+	3	2	C16orf78	47969151	0.048000	0.20356	0.002000	0.10522	0.021000	0.10359	0.186000	0.16978	-0.057000	0.13199	0.561000	0.74099	AAG	-	NULL		0.557	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	protein_coding	OTTHUMT00000256846.1	G	NM_144602	-		49411650	1	no_errors	ENST00000299191	ensembl	human	known	74_37	missense	SNP	0.003	T	T	49411650	G	T	49411650	3	4	185	1	0	0	0	0	1	0	0	0	1837	962	34	3	165	3	C16orf78	16	49411650	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	33167066	49411650	40943103	40	12893											
COG8	84342	genome.wustl.edu	37	chr16	69368559	69368559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaatctaggagcaccatGggtggctgcagcgtccccgg	16	11	1	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:69368559G>A	ENST00000306875.4	-	3	1392	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	RP11-343C2.12_ENST00000562949.1_Silent_p.P72P|COG8_ENST00000562081.1_Silent_p.P426P	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	426					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGAGCACCATGGGTGGCTGCA	0.597																																																	0								ENSG00000213380						75	71	72					16																	69368559		2198	4300	6498	COG8	SO:0001819	synonymous_variant	0			-	HGNC	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1278C>T	16.37:g.69368559G>A		Somatic	0	44	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	15	79.73	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP							pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant	p.P426	ENST00000306875.4	37	c.1278	CCDS10876.1	16																																																																																			-	pirsf_COG8_Metazoal_Plant		0.597	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	protein_coding	OTTHUMT00000268948.2	G	NM_032382	-		69368559	-1	no_errors	ENST00000306875	ensembl	human	known	74_37	silent	SNP	0.882	A	A	69368559	G	A	69368559	2	1	185	1	0	0	0	0	0	0	0	1	3666	1335	47	2		2	COG8	16	69368559	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	19956909	69368559	20986194	41	12894											
GGT6	124975	genome.wustl.edu	37	chr17	4462705	4462705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactccagcatccacgacGttgcccccggcaacaagcag	8	18	0	0			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr17:4462705G>A	ENST00000574154.1	-	3	668	c.372C>T	c.(370-372)aaC>aaT	p.N124N	GGT6_ENST00000381550.3_Silent_p.N130N|GGT6_ENST00000301395.3_Intron|GGT6_ENST00000573591.1_De_novo_Start_OutOfFrame			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	124					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CATCCACGACGTTGCCCCCGG	0.637																																																	0								ENSG00000167741						43	49	48					17																	4462705		692	1591	2283	GGT6	SO:0001819	synonymous_variant	0			-	HGNC	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"Gamma-glutamyltransferases"	26891	protein-coding gene	gene with protein product		612341	"gamma-glutamyltransferase 6 homolog (rat)"			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.372C>T	17.37:g.4462705G>A		Somatic	0	130	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	20	54.55	B4DUH4|Q8NCM0	Silent	SNP							pfam_GGT_peptidase,prints_GGT_peptidase	p.N124	ENST00000574154.1	37	c.372	CCDS45582.1	17																																																																																			-	pfam_GGT_peptidase,prints_GGT_peptidase		0.637	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GGT6	protein_coding	OTTHUMT00000439122.1	G	NM_153338	-		4462705	-1	no_errors	ENST00000574154	ensembl	human	known	74_37	silent	SNP	0.681	A	A	4462705	G	A	4462705	2	1	185	1	0	0	0	0	0	0	0	1	6365	1136	40	1		1	GGT6	17	4462705	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		4462705	76732505	42	12895											
DNAH9	1770	genome.wustl.edu	37	chr17	11583113	11583113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttataaagaagagtgagagCggcttactcaagaaagttga	11	4	1	5			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr17:11583113C>T	ENST00000262442.4	+	18	3461	c.3393C>T	c.(3391-3393)agC>agT	p.S1131S	DNAH9_ENST00000454412.2_Silent_p.S1131S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1131	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.S1131S(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)		AGAGTGAGAGCGGCTTACTCA	0.433																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000007174						139	138	138					17																	11583113		2203	4300	6503	DNAH9	SO:0001819	synonymous_variant	0			-	HGNC	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.3393C>T	17.37:g.11583113C>T		Somatic	0	123	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1131	ENST00000262442.4	37	c.3393	CCDS11160.1	17																																																																																			-	NULL		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	-		11583113	1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	SNP	0.001	T	T	11583113	C	T	11583113	2	4	185	1	0	0	0	0	0	0	0	1	4610	767	27	1		1	DNAH9	17	11583113	Silent	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	7120408	11583113	69612097	43	12896											
IFI35	3430	genome.wustl.edu	37	chr17	41164274	41164274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgagaaaggagctcGgggactcccccaaagacaag	13	11	0	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr17:41164274G>A	ENST00000415816.2	+	2	323	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	IFI35_ENST00000536969.1_3'UTR|IFI35_ENST00000438323.2_Missense_Mutation_p.G34R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	34					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AAAGGAGCTCGGGGACTCCCC	0.592																																																	0								ENSG00000068079						36	40	39					17																	41164274		2183	4282	6465	IFI35	SO:0001583	missense	0			-	HGNC	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.100G>A	17.37:g.41164274G>A	ENSP00000394579:p.Gly34Arg	Somatic	0	36	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP							pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N	p.G34R	ENST00000415816.2	37	c.100		17	.	.	.	.	.	.	.	.	.	.	g	4.715	0.132966	0.09032	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.40756	1.03;1.02	4.9	-1.53	0.08611	Interferon induced 35kDa, N-terminal (1);	1.583810	0.02969	N	0.144136	T	0.19604	0.0471	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11324	-1.0592	10	0.14252	T	0.57	.	4.534	0.12019	0.5919:0.0:0.2676:0.1406	.	34	P80217	IN35_HUMAN	R	34	ENSP00000394579:G34R;ENSP00000395590:G34R	ENSP00000394579:G34R	G	+	1	0	IFI35	38417800	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.808000	0.04515	-0.101000	0.12219	-1.073000	0.02249	GGG	-	pfam_Nmi/IFP35_N		0.592	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	protein_coding	OTTHUMT00000395851.1	G	NM_005533	-		41164274	1	no_errors	ENST00000438323	ensembl	human	known	74_37	missense	SNP	0.000	A	A	41164274	G	A	41164274	3	1	185	1	0	0	0	0	1	0	0	0	7518	1116	39	1	106	1	IFI35	17	41164274	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	29581161	41164274	40030936	44	12897											
TNFSF14	8740	genome.wustl.edu	37	chr19	6669985	6669985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacccgggccacactgcaCgactgtctccggtggcttcg	11	18	1	0	rs377255029		TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:6669985C>T	ENST00000599359.1	-	2	477	c.96G>A	c.(94-96)tcG>tcA	p.S32S	TNFSF14_ENST00000326176.9_Silent_p.S32S|TNFSF14_ENST00000245912.3_Silent_p.S32S			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	32			S -> L (in dbSNP:rs2291667).		apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCACACTGCACGACTGTCTCC	0.637													C|||	1	0.000199681	0	0.0014	5008	,	,		15943	0		0	False		,,,				2504	0																0								ENSG00000125735	C	,	0,4406		0,0,2203	133	114	121		96,96	1	0.3	19		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TNFSF14	NM_003807.3,NM_172014.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	32/241,32/205	6669985	1,13005	2203	4300	6503	TNFSF14	SO:0001819	synonymous_variant	0			-	HGNC	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.96G>A	19.37:g.6669985C>T		Somatic	0	85	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	58	21.62	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.S32	ENST00000599359.1	37	c.96	CCDS12171.1	19																																																																																			-	NULL		0.637	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF14	protein_coding	OTTHUMT00000457863.1	C		-		6669985	-1	no_errors	ENST00000599359	ensembl	human	known	74_37	silent	SNP	0.296	T	T	6669985	C	T	6669985	2	4	185	1	0	0	0	0	0	0	0	1	16314	523	19	1		1	TNFSF14	19	6669985	Silent	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09		6669985	52458998	45	12898											
HAS1	3036	genome.wustl.edu	37	chr19	52217143	52217143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcccaagggcggcccGcgtagaacagacgcagcaca	14	15	0	2			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:52217143G>A	ENST00000222115.1	-	5	1308	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	HAS1_ENST00000540069.2_Missense_Mutation_p.A424V|HAS1_ENST00000601714.1_Missense_Mutation_p.A432V	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	425					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.A425V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGCGGCCCGCGTAGAACAG	0.706																																					NSCLC(132;636 2450 45807 47979)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000105509						29	30	29					19																	52217143		2190	4296	6486	HAS1	SO:0001583	missense	0			-	HGNC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1274C>T	19.37:g.52217143G>A	ENSP00000222115:p.Ala425Val	Somatic	0	77	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q14470|Q9NS49	Missense_Mutation	SNP							pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A432V	ENST00000222115.1	37	c.1295	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	g	8.554	0.876206	0.17395	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.58797	0.31;0.31	3.19	3.19	0.36642	.	0.221815	0.38111	U	0.001817	T	0.37945	0.1022	L	0.27053	0.805	0.26824	N	0.968739	B;B;B	0.28900	0.227;0.146;0.146	B;B;B	0.19148	0.024;0.011;0.011	T	0.22695	-1.0209	10	0.36615	T	0.2	-18.1561	8.547	0.33429	0.0:0.2393:0.7606:0.0	.	424;425;424	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	V	424;425	ENSP00000445021:A424V;ENSP00000222115:A425V	ENSP00000222115:A425V	A	-	2	0	HAS1	56908955	1.000000	0.71417	0.987000	0.45799	0.204000	0.24138	3.897000	0.56273	1.812000	0.52913	0.165000	0.16767	GCG	-	NULL		0.706	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	G	NM_001523	-		52217143	-1	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	SNP	0.872	A	A	52217143	G	A	52217143	3	1	185	1	0	0	0	0	1	0	0	0	6963	1087	38	1	466	1	HAS1	19	52217143	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	45547158	52217143	6911840	46	12899											
ZNF468	90333	genome.wustl.edu	37	chr19	53344717	53344717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattatgaccaaaggtcttgCcacactcattacacttgtaa	5	10	2	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:53344717C>A	ENST00000595646.1	-	4	950	c.830G>T	c.(829-831)gGc>gTc	p.G277V	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.G224V|ZNF468_ENST00000390651.4_Missense_Mutation_p.G224V|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	277					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)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAAGGTCTTGCCACACTCATT	0.418																																																	0								ENSG00000204604						130	118	122					19																	53344717		2203	4300	6503	ZNF468	SO:0001583	missense	0			-	HGNC	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.830G>T	19.37:g.53344717C>A	ENSP00000470381:p.Gly277Val	Somatic	0	139	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	56	27.27	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G277V	ENST00000595646.1	37	c.830	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	c	18.84	3.709354	0.68615	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.07444	3.19;3.19	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33614	0.0869	M	0.93016	3.37	0.49389	D	0.99978	D	0.89917	1.0	D	0.85130	0.997	T	0.38520	-0.9657	9	0.87932	D	0	.	10.4634	0.44594	0.0:1.0:0.0:0.0	.	277	Q5VIY5	ZN468_HUMAN	V	277;224;224;27	ENSP00000379690:G224V;ENSP00000445669:G224V	ENSP00000243639:G277V	G	-	2	0	ZNF468	58036529	0.690000	0.27699	0.218000	0.23776	0.471000	0.32888	0.278000	0.18753	0.949000	0.37715	0.174000	0.16983	GGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	protein_coding	OTTHUMT00000463098.1	C	NM_001008801	-		53344717	-1	no_errors	ENST00000595646	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53344717	C	A	53344717	3	1	185	1	0	0	0	0	1	0	0	0	17935	739	26	3	742	3	ZNF468	19	53344717	Missense_Mutation	SNP	C	TCGA-MJ-A68H-01A-11D-A307-09	1127574	53344717	5784266	47	12900											
ZNF765	91661	genome.wustl.edu	37	chr19	53911520	53911520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacatcagttaatccatTtaggagagaaacaatataaa	7	5	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:53911520T>G	ENST00000396408.3	+	4	829	c.712T>G	c.(712-714)Tta>Gta	p.L238V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	238					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(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTTAATCCATTTAGGAGAGAA	0.383																																																	0								ENSG00000196417						79	79	79					19																	53911520		2200	4300	6500	ZNF765	SO:0001583	missense	0			-	HGNC	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.712T>G	19.37:g.53911520T>G	ENSP00000379689:p.Leu238Val	Somatic	0	145	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	52	42.22	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L238V	ENST00000396408.3	37	c.712	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084133	0.36758	.	.	ENSG00000196417	ENST00000396408	T	0.18657	2.2	0.439	0.439	0.16567	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	L	0.31420	0.93	0.09310	N	0.999998	P	0.49862	0.929	P	0.56648	0.803	T	0.12426	-1.0548	8	.	.	.	.	3.4975	0.07661	0.5978:0.0:0.0:0.4022	.	238	Q7L2R6	ZN765_HUMAN	V	238	ENSP00000379689:L238V	.	L	+	1	2	ZNF765	58603332	.	.	0.010000	0.14722	0.239000	0.25481	.	.	0.376000	0.24707	0.147000	0.16070	TTA	-	pfscan_Znf_C2H2		0.383	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	protein_coding	OTTHUMT00000371603.1	T	NM_138372	-		53911520	1	no_errors	ENST00000396408	ensembl	human	known	74_37	missense	SNP	0.561	G	G	53911520	T	G	53911520	3	3	185	1	0	0	0	0	1	0	0	0	18146	1838	64	5	722	5	ZNF765	19	53911520	Missense_Mutation	SNP	T	TCGA-MJ-A68H-01A-11D-A307-09	566803	53911520	5217463	48	12901											
TGM3	7053	genome.wustl.edu	37	chr20	2308810	2308810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtcattggtgttcgagagGgtgatgtgcagctgaacttc	15	7	1	3			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr20:2308810G>T	ENST00000381458.5	+	9	1195	c.1132G>T	c.(1132-1134)Ggt>Tgt	p.G378C		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	378					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGTTCGAGAGGGTGATGTGCA	0.567																																																	0								ENSG00000125780						147	119	129					20																	2308810		2203	4300	6503	TGM3	SO:0001583	missense	0			-	HGNC	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1132G>T	20.37:g.2308810G>T	ENSP00000370867:p.Gly378Cys	Somatic	0	148	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G378C	ENST00000381458.5	37	c.1132	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001708	0.54254	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.59364	0.27	4.87	4.87	0.63330	.	0.119881	0.56097	D	0.000022	T	0.82250	0.4996	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87240	0.2266	10	0.87932	D	0	.	15.5466	0.76108	0.0:0.0:1.0:0.0	.	378	Q08188	TGM3_HUMAN	C	378	ENSP00000370867:G378C	ENSP00000370867:G378C	G	+	1	0	TGM3	2256810	1.000000	0.71417	0.183000	0.23137	0.031000	0.12232	9.120000	0.94369	2.548000	0.85928	0.563000	0.77884	GGT	-	NULL		0.567	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	protein_coding	OTTHUMT00000077579.2	G	NM_003245	-		2308810	1	no_errors	ENST00000381458	ensembl	human	known	74_37	missense	SNP	0.998	T	T	2308810	G	T	2308810	3	4	185	1	0	0	0	0	1	0	0	0	15838	1232	43	3	1166	3	TGM3	20	2308810	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		2308810	60716710	49	12902											
DSCAM	1826	genome.wustl.edu	37	chr21	42080624	42080624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcaccagagtccccgtGgtgctggcaaacactacctc	11	15	0	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr21:42080624G>A	ENST00000400454.1	-	2	594	c.117C>T	c.(115-117)acC>acT	p.T39T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	39	Ig-like C2-type 1.				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)				GAGTCCCCGTGGTGCTGGCAA	0.562																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						107	112	110					21																	42080624		2025	4175	6200	DSCAM	SO:0001819	synonymous_variant	0			-	HGNC	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.117C>T	21.37:g.42080624G>A		Somatic	0	84	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	O60468	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T39	ENST00000400454.1	37	c.117	CCDS42929.1	21																																																																																			-	smart_Ig_sub2		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	-		42080624	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42080624	G	A	42080624	2	1	185	1	0	0	0	0	0	0	0	1	4770	1335	47	2		2	DSCAM	21	42080624	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		42080624	6049271	50	12903											
TRPM2	7226	genome.wustl.edu	37	chr21	45844781	45844781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatcgtgaggacgctgcGggccagcggcttcagctcgg	17	12	1	1			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr21:45844781G>A	ENST00000397928.1	+	24	4041	c.3596G>A	c.(3595-3597)cGg>cAg	p.R1199Q	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1249Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1199Q|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1179Q|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1199			R -> W (in dbSNP:rs45611537). {ECO:0000269|Ref.6}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGACGCTGCGGGCCAGCGGC	0.667																																																	0								ENSG00000142185						18	19	18					21																	45844781		2201	4294	6495	TRPM2	SO:0001583	missense	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3596G>A	21.37:g.45844781G>A	ENSP00000381023:p.Arg1199Gln	Somatic	0	65	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP							pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.R1199Q	ENST00000397928.1	37	c.3596	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	1.789	-0.480060	0.04383	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.75367	1.02;1.02;1.02;-0.93	3.89	2.94	0.34122	.	0.474813	0.21618	N	0.071691	T	0.47395	0.1443	N	0.05441	-0.05	0.21355	N	0.999711	B;B;B	0.15719	0.006;0.014;0.01	B;B;B	0.06405	0.002;0.001;0.001	T	0.21449	-1.0245	10	0.23891	T	0.37	-20.7634	3.74	0.08526	0.1507:0.0:0.6132:0.2361	.	1249;985;1199	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Q	1199;1199;1179;1249	ENSP00000300482:R1199Q;ENSP00000381023:R1199Q;ENSP00000300481:R1179Q;ENSP00000381026:R1249Q	ENSP00000300481:R1179Q	R	+	2	0	TRPM2	44669209	0.001000	0.12720	0.409000	0.26459	0.073000	0.16967	0.854000	0.27791	0.647000	0.30713	0.543000	0.68304	CGG	-	NULL		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	G	NM_003307	-		45844781	1	no_errors	ENST00000300482	ensembl	human	known	74_37	missense	SNP	0.784	A	A	45844781	G	A	45844781	3	1	185	1	0	0	0	0	1	0	0	0	16593	1116	39	1	3690	1	TRPM2	21	45844781	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	3764157	45844781	2285114	51	12904											
MAPK1	5594	genome.wustl.edu	37	chr22	22161991	22161993	+	In_Frame_Del	DEL	GTC	GTC	-													atggttggtgctcgaataatGtcattgattccaatgatgtt							TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	GTC	GTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr22:22161991_22161993delGTC	ENST00000215832.6	-	2	450_452	c.262_264delGAC	c.(262-264)gacdel	p.D88del	MAPK1_ENST00000544786.1_In_Frame_Del_p.D88del|MAPK1_ENST00000398822.3_In_Frame_Del_p.D88del	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	88	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)			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)	CTCGAATAATGTCATTGATTCCA	0.429																																																	0								ENSG00000100030																																			MAPK1	SO:0001651	inframe_deletion	0				HGNC	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.262_264delGAC	22.37:g.22161991_22161993delGTC	ENSP00000215832:p.Asp88del	Somatic	0	136	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	67	22.99	A8CZ64	In_Frame_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.D88in_frame_del	ENST00000215832.6	37	c.264_262	CCDS13795.1	22																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.429	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	protein_coding	OTTHUMT00000075396.2	GTC				22161993	-1	no_errors	ENST00000215832	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000	-	-	22161993	GTC	-	22161991	7	5	185	1	0	1	0	1	0	0	0	0	9273	1368	48	0	846	0	MAPK1	22	22161991	In_Frame_Del	DEL	GTC	TCGA-MJ-A68H-01A-11D-A307-09		22161991	29142575	52	12905											
CXorf66	347487	genome.wustl.edu	37	chrX	139038107	139038107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtaccctctgtcacacGtaatgattataactttatca	5	9	3	1	rs149420594	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chrX:139038107G>A	ENST00000370540.1	-	3	1057	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	345						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCTGTCACACGTAATGATTAT	0.358													G|||	2	0.000529801	0.0015	0	3775	,	,		13852	0		0	False		,,,				2504	0																0								ENSG00000203933	G	MET/THR	9,3826		0,8,1,1624,570	150	122	131		1034	2.7	0	X	dbSNP_134	131	0,6728		0,0,0,2428,1872	yes	missense	CXorf66	NM_001013403.2	81	0,8,1,4052,2442	AA,AG,A,GG,G		0.0,0.2347,0.0852	probably-damaging	345/362	139038107	9,10554	2203	4300	6503	CXorf66	SO:0001583	missense	0			-	HGNC		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.1034C>T	X.37:g.139038107G>A	ENSP00000359571:p.Thr345Met	Somatic	0	255	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79		Missense_Mutation	SNP							NULL	p.T345M	ENST00000370540.1	37	c.1034	CCDS35411.1	X	.	.	.	.	.	.	.	.	.	.	G	0.964	-0.702284	0.03255	0.002347	0.0	ENSG00000203933	ENST00000370540	T	0.44482	0.92	3.97	2.7	0.31948	.	0.196750	0.25894	N	0.027604	T	0.16557	0.0398	N	0.04508	-0.205	0.09310	N	1	B	0.18461	0.028	B	0.12837	0.008	T	0.17653	-1.0362	9	.	.	.	-3.6956	5.3052	0.15799	0.8668:0.0:0.1332:0.0	.	345	Q5JRM2	CX066_HUMAN	M	345	ENSP00000359571:T345M	.	T	-	2	0	CXorf66	138865773	0.296000	0.24398	0.022000	0.16811	0.004000	0.04260	2.188000	0.42612	0.668000	0.31126	-0.376000	0.06991	ACG	-	NULL		0.358	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	protein_coding	OTTHUMT00000058572.1	G	NM_001013403	rs149420594		139038107	-1	no_errors	ENST00000370540	ensembl	human	known	74_37	missense	SNP	0.025	A	A	139038107	G	A	139038107	3	1	185	1	0	0	0	0	1	0	0	0	4120	1145	40	1	55	1	CXorf66	23	139038107	Missense_Mutation	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09		139038107	16232453	53	12906											
F8	2157	genome.wustl.edu	37	chrX	154128144	154128144	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgattacattttctaaccttGatccaagaaaagggctcctt	6	9	1	3			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chrX:154128144G>T	ENST00000360256.4	-	21	6470	c.6270C>A	c.(6268-6270)atC>atA	p.I2090I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2090	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTAACCTTGATCCAAGAAA	0.408																																																	0								ENSG00000185010						90	79	83					X																	154128144		2203	4300	6503	F8	SO:0001819	synonymous_variant	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6270C>A	X.37:g.154128144G>T		Somatic	0	104	0		0.580044526487233				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q14286|Q5HY69	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I2090	ENST00000360256.4	37	c.6270	CCDS35457.1	X																																																																																			-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	G		-		154128144	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	silent	SNP	1.000	T	T	154128144	G	T	154128144	2	4	185	1	0	0	0	0	0	0	0	1	5352	1280	45	3		3	F8	23	154128144	Silent	SNP	G	TCGA-MJ-A68H-01A-11D-A307-09	15090037	154128144	1142416	54	12907											
SYT2	127833	genome.wustl.edu	37	chr1	202571629	202571629	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtctgaggtgcctcccatGtccagggcaggcagttcagc	15	12	2	1			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr1:202571629G>C	ENST00000367267.1	-	5	702	c.510C>G	c.(508-510)gaC>gaG	p.D170E	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Missense_Mutation_p.D170E	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	170	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGCCTCCCATGTCCAGGGCAG	0.542																																																	0								ENSG00000143858						89	84	86					1																	202571629		2203	4300	6503	SYT2	SO:0001583	missense	0			-	HGNC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.510C>G	1.37:g.202571629G>C	ENSP00000356236:p.Asp170Glu	Somatic	0	71	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.00	Q496K5|Q8NBE5	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.D170E	ENST00000367267.1	37	c.510	CCDS1427.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279142	0.80692	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.74421	-0.84;-0.84	5.58	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.85299	2.745	0.58432	D	0.999999	P	0.45474	0.859	P	0.55577	0.779	D	0.85776	0.1358	10	0.87932	D	0	.	11.0973	0.48152	0.1501:0.0:0.8499:0.0	.	170	Q8N9I0	SYT2_HUMAN	E	170	ENSP00000356237:D170E;ENSP00000356236:D170E	ENSP00000356236:D170E	D	-	3	2	SYT2	200838252	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.925000	0.48884	1.362000	0.46000	0.655000	0.94253	GAC	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin		0.542	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	protein_coding	OTTHUMT00000099157.1	G	NM_177402	-		202571629	-1	no_errors	ENST00000367267	ensembl	human	known	74_37	missense	SNP	1.000	C	C	202571629	G	C	202571629	3	2	186	1	0	0	0	0	1	0	0	0	15481	1368	48	4	769	4	SYT2	1	202571629	Missense_Mutation	SNP	G	TCGA-MJ-A68J-01A-11D-A307-09		202571629	46678992	1	12908											
C2orf16	84226	genome.wustl.edu	37	chr2	27804402	27804402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtccctcagagagaagccatCgcagtccctcagagagaagc	11	13	2	4			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr2:27804402C>A	ENST00000408964.2	+	1	5014	c.4963C>A	c.(4963-4965)Cgc>Agc	p.R1655S	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGCCATCGCAGTCCCTC	0.577																																																	0								ENSG00000221843						161	162	161					2																	27804402		1897	4121	6018	C2orf16	SO:0001583	missense	0			-	HGNC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4963C>A	2.37:g.27804402C>A	ENSP00000386190:p.Arg1655Ser	Somatic	0	201	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	135	33.17	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP							NULL	p.R1655S	ENST00000408964.2	37	c.4963	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012158	0.35511	.	.	ENSG00000221843	ENST00000408964	T	0.05025	3.51	3.39	1.51	0.23008	.	.	.	.	.	T	0.07188	0.0182	L	0.56769	1.78	0.09310	N	1	B	0.21147	0.052	B	0.19946	0.027	T	0.31943	-0.9925	9	0.34782	T	0.22	.	5.6296	0.17504	0.1991:0.684:0.0:0.1169	.	1655	Q68DN1	CB016_HUMAN	S	1655	ENSP00000386190:R1655S	ENSP00000386190:R1655S	R	+	1	0	C2orf16	27657906	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-0.484000	0.06528	0.725000	0.32318	0.313000	0.20887	CGC	-	NULL		0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	protein_coding	OTTHUMT00000353292.1	C	NM_032266	-		27804402	1	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	SNP	0.001	A	A	27804402	C	A	27804402	3	1	186	1	0	0	0	0	1	0	0	0	2159	884	31	3	4965	3	C2orf16	2	27804402	Missense_Mutation	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		27804402	215394971	2	12909											
SLC27A6	28965	genome.wustl.edu	37	chr5	128302184	128302184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagcaatgagccggacttCgttcacgtgtggttcggcct	13	10	1	2			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000395266.1_Silent_p.F118F|SLC27A6_ENST00000506176.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					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)		AGCCGGACTTCGTTCACGTGT	0.567																																																	0								ENSG00000113396						82	62	69					5																	128302184		2203	4300	6503	SLC27A6	SO:0001819	synonymous_variant	0			-	HGNC	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.354C>T	5.37:g.128302184C>T		Somatic	0	126	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	93	29.01	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.F118	ENST00000262462.4	37	c.354	CCDS4145.1	5																																																																																			-	pfam_AMP-dep_Synth/Lig		0.567	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	protein_coding	OTTHUMT00000250980.1	C	NM_014031	-		128302184	1	no_errors	ENST00000262462	ensembl	human	known	74_37	silent	SNP	0.886	T	T	128302184	C	T	128302184	2	4	186	1	0	0	0	0	0	0	0	1	14538	883	31	1		1	SLC27A6	5	128302184	Silent	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		128302184	52613076	3	12910											
CARD11	84433	genome.wustl.edu	37	chr7	2953040	2953040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctcgcagtagaaggcgCgtaccaggctgtaggggatg	18	9	0	1	rs141751925	byFrequency	TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr7:2953040C>T	ENST00000396946.4	-	22	3303	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R960P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTAGAAGGCGCGTACCAGGCT	0.677			Mis		DLBCL								C|||	2	0.000399361	0	0	5008	,	,		13736	0.002		0	False		,,,				2504	0							Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	kidney(1)						ENSG00000198286						73	63	67					7																	2953040		2203	4300	6503	CARD11	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2900G>A	7.37:g.2953040C>T	ENSP00000380150:p.Arg967His	Somatic	0	212	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	137	34.13	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.R967H	ENST00000396946.4	37	c.2900	CCDS5336.2	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.789	0.514523	0.12944	.	.	ENSG00000198286	ENST00000396946	T	0.31247	1.5	4.36	3.47	0.39725	.	0.334784	0.27231	N	0.020313	T	0.15478	0.0373	N	0.11560	0.145	0.37466	D	0.915416	B	0.02656	0.0	B	0.04013	0.001	T	0.07712	-1.0758	10	0.48119	T	0.1	-24.9651	8.2371	0.31634	0.0:0.8208:0.0:0.1792	.	967	Q9BXL7	CAR11_HUMAN	H	967	ENSP00000380150:R967H	ENSP00000380150:R967H	R	-	2	0	CARD11	2919566	0.475000	0.25894	0.981000	0.43875	0.587000	0.36485	0.795000	0.26972	1.985000	0.57927	0.484000	0.47621	CGC	-	NULL		0.677	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	protein_coding	OTTHUMT00000059344.4	C	NM_032415	rs141751925		2953040	-1	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	SNP	0.963	T	T	2953040	C	T	2953040	3	4	186	1	0	0	0	0	1	0	0	0	2647	768	27	1	580	1	CARD11	7	2953040	Missense_Mutation	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		2953040	156185623	4	12911											
CELF2	10659	genome.wustl.edu	37	chr10	11312784	11312784	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactgaccccacagtatctGgcggtaagtgctgggcaatg	14	10	1	1			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr10:11312784G>T	ENST00000379261.4	+	7	845	c.753G>T	c.(751-753)ctG>ctT	p.L251L	CELF2_ENST00000315874.4_Silent_p.L227L|CELF2_ENST00000417956.2_Silent_p.L227L|CELF2_ENST00000399850.3_Silent_p.L227L|CELF2_ENST00000608830.1_Silent_p.L227L|CELF2_ENST00000450189.1_Silent_p.L258L|CELF2_ENST00000427450.1_Silent_p.L227L|CELF2_ENST00000542579.1_Silent_p.L258L|CELF2_ENST00000609692.1_Silent_p.L227L|CELF2_ENST00000354897.3_Silent_p.L227L|CELF2_ENST00000416382.2_Silent_p.L251L|CELF2_ENST00000537122.1_Silent_p.L140L|CELF2_ENST00000354440.2_Silent_p.L227L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	251	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACAGTATCTGGCGGTAAGTG	0.582											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000048740						36	40	39					10																	11312784		2093	4235	6328	CELF2	SO:0001819	synonymous_variant	0			-	HGNC	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.753G>T	10.37:g.11312784G>T		Somatic	0	46	0	671	0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.L258	ENST00000379261.4	37	c.774	CCDS44354.1	10																																																																																			-	NULL		0.582	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	protein_coding		G		-		11312784	1	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	SNP	1.000	T	T	11312784	G	T	11312784	2	4	186	1	0	0	0	0	0	0	0	1	3218	1335	47	3		3	CELF2	10	11312784	Silent	SNP	G	TCGA-MJ-A68J-01A-11D-A307-09		11312784	124221963	5	12912											
ATM	472	genome.wustl.edu	37	chr11	108119792	108119792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaagtaataaaagatcacCttcagaagtcacagaatgat	9	6	3	4			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr11:108119792C>A	ENST00000452508.2	+	10	1387	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	ATM_ENST00000278616.4_Missense_Mutation_p.L400I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	400					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAAAGATCACCTTCAGAAGTC	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						132	127	129					11																	108119792		2201	4298	6499	ATM	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1198C>A	11.37:g.108119792C>A	ENSP00000388058:p.Leu400Ile	Somatic	0	72	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	66	29.03	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L400I	ENST00000452508.2	37	c.1198	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695810	0.68386	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02763	4.17;4.63;4.63	5.07	5.07	0.68467	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.04272	0.0118	L	0.55834	1.745	0.53688	D	0.999976	P	0.48294	0.908	B	0.37692	0.256	T	0.58470	-0.7631	10	0.21014	T	0.42	.	18.4131	0.90559	0.0:1.0:0.0:0.0	.	400	Q13315	ATM_HUMAN	I	400	ENSP00000435747:L400I;ENSP00000278616:L400I;ENSP00000388058:L400I	ENSP00000278616:L400I	L	+	1	0	ATM	107625002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.358000	0.52284	2.499000	0.84300	0.563000	0.77884	CTT	-	superfamily_ARM-type_fold		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	C	NM_000051	-		108119792	1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108119792	C	A	108119792	3	1	186	1	0	0	0	0	1	0	0	0	1109	681	24	3	1228	3	ATM	11	108119792	Missense_Mutation	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		108119792	26886724	6	12913											
JAM3	83700	genome.wustl.edu	37	chr11	133938975	133938975	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggcccctcagcaaccctCgacatggcgctgaggcggcc	13	17	1	1	rs572472879		TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr11:133938975C>T	ENST00000299106.4	+	0	156				JAM3_ENST00000441717.3_5'UTR|JAM3_ENST00000529443.2_Silent_p.L44L			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3						adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CAGCAACCCTCGACATGGCGC	0.697													C|||	1	0.000199681	0	0.0014	5008	,	,		12468	0		0	False		,,,				2504	0																0								ENSG00000166086						12	13	13					11																	133938975		2166	4214	6380	JAM3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.-4C>T	11.37:g.133938975C>T		Somatic	0	56	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	49	34.67	B3KWG9|Q8WWL8|Q96FL1	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L44	ENST00000299106.4	37	c.132	CCDS8494.2	11	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688940	0.29962	.	.	ENSG00000166086	ENST00000534549;ENST00000531698;ENST00000529443	.	.	.	5.18	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1943	0.10437	0.1619:0.5946:0.1564:0.0871	.	.	.	.	X	4	.	.	R	+	1	2	JAM3	133444185	0.459000	0.25768	0.610000	0.28997	0.783000	0.44284	-0.199000	0.09491	0.182000	0.20032	0.404000	0.27445	CGA	-	NULL		0.697	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	JAM3	protein_coding	OTTHUMT00000393303.4	C	NM_032801	-		133938975	1	no_errors	ENST00000529443	ensembl	human	known	74_37	silent	SNP	0.947	T	T	133938975	C	T	133938975	1	4	186	0	1	0	0	0	0	0	0	0	7946	871	31	1		1	JAM3	11	133938975	5'UTR	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09	25819183	133938975	1067541	7	12914											
OR6C76	390326	genome.wustl.edu	37	chr12	55820132	55820132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcgttcctatttcttaCgtatgtactgagtgttactg	7	8	2	1			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr12:55820132C>T	ENST00000328314.3	+	1	95	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTATTTCTTACGTATGTACTG	0.423																																																	0								ENSG00000185821						176	169	171					12																	55820132		2203	4300	6503	OR6C76	SO:0001583	missense	0			-	HGNC		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.95C>T	12.37:g.55820132C>T	ENSP00000328402:p.Thr32Met	Somatic	0	147	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	96	29.41		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T32M	ENST00000328314.3	37	c.95	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	c	13.83	2.352890	0.41700	.	.	ENSG00000185821	ENST00000328314	T	0.00509	6.91	4.35	2.36	0.29203	.	0.000000	0.43919	U	0.000511	T	0.00384	0.0012	N	0.16201	0.385	0.09310	N	1	D	0.61080	0.989	P	0.51355	0.667	T	0.56768	-0.7924	10	0.72032	D	0.01	.	2.5527	0.04752	0.2117:0.454:0.0:0.3343	.	32	A6NM76	O6C76_HUMAN	M	32	ENSP00000328402:T32M	ENSP00000328402:T32M	T	+	2	0	OR6C76	54106399	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.931000	0.03967	1.174000	0.42811	0.598000	0.82781	ACG	-	prints_GPCR_Rhodpsn		0.423	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	protein_coding	OTTHUMT00000406675.1	C	NM_001005183	-		55820132	1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	SNP	0.001	T	T	55820132	C	T	55820132	3	4	186	1	0	0	0	0	1	0	0	0	11202	536	19	1	97	1	OR6C76	12	55820132	Missense_Mutation	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		55820132	78031763	8	12915											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22853761	22853761	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccttttctctctctgggtgGaaacggtgcggccttacctg	11	12	2	0			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr15:22853761G>C	ENST00000283645.4	+	12	1529	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E467Q|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	467					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCTCTGGGTGGAAACGGTGCG	0.572																																																	0								ENSG00000153575						75	63	67					15																	22853761		2203	4300	6503	TUBGCP5	SO:0001583	missense	0			-	HGNC	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1399G>C	15.37:g.22853761G>C	ENSP00000283645:p.Glu467Gln	Somatic	0	99	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	55	36.05	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP							pfam_TUBGCP	p.E467Q	ENST00000283645.4	37	c.1399	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	19.24	3.788509	0.70337	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07800	3.16;3.16	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	L	0.45581	1.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71184	0.972;0.972;0.972	T	0.02313	-1.1178	10	0.16420	T	0.52	-23.3421	19.6322	0.95713	0.0:0.0:1.0:0.0	.	467;467;467	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	Q	467	ENSP00000283645:E467Q;ENSP00000409217:E467Q	ENSP00000283645:E467Q	E	+	1	0	TUBGCP5	20405202	1.000000	0.71417	0.997000	0.53966	0.257000	0.26127	9.231000	0.95317	2.652000	0.90054	0.655000	0.94253	GAA	-	pfam_TUBGCP		0.572	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	protein_coding	OTTHUMT00000250998.2	G	NM_052903	-		22853761	1	no_errors	ENST00000283645	ensembl	human	known	74_37	missense	SNP	1.000	C	C	22853761	G	C	22853761	3	2	186	1	0	0	0	0	1	0	0	0	16776	1175	41	4	1445	4	TUBGCP5	15	22853761	Missense_Mutation	SNP	G	TCGA-MJ-A68J-01A-11D-A307-09		22853761	79677631	9	12916											
SPG11	80208	genome.wustl.edu	37	chr15	44876519	44876519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttatccaagggcaccacgtCctcctgggcaagccagtgcc	10	16	0	0			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr15:44876519C>A	ENST00000261866.7	-	30	5375	c.5359G>T	c.(5359-5361)Gac>Tac	p.D1787Y	SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000558319.1_Missense_Mutation_p.D1787Y|SPG11_ENST00000427534.2_Missense_Mutation_p.D1787Y|SPG11_ENST00000535302.2_Missense_Mutation_p.D1787Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1787					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)		GGCACCACGTCCTCCTGGGCA	0.597																																																	0								ENSG00000104133						45	46	46					15																	44876519		2198	4298	6496	SPG11	SO:0001583	missense	0			-	HGNC		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.5359G>T	15.37:g.44876519C>A	ENSP00000261866:p.Asp1787Tyr	Somatic	0	67	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	39.06	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP							NULL	p.D1787Y	ENST00000261866.7	37	c.5359	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576487	0.45902	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.89;-0.89	5.95	5.03	0.67393	.	0.413086	0.26680	N	0.023051	T	0.81564	0.4849	M	0.62723	1.935	0.22684	N	0.998859	P;D;P;P	0.56287	0.955;0.975;0.955;0.955	P;P;P;P	0.56514	0.73;0.8;0.73;0.73	T	0.72915	-0.4147	10	0.34782	T	0.22	.	10.4437	0.44481	0.0:0.6796:0.2537:0.0667	.	1787;1787;1787;1787	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	Y	1787	ENSP00000261866:D1787Y;ENSP00000445278:D1787Y;ENSP00000396110:D1787Y	ENSP00000261866:D1787Y	D	-	1	0	SPG11	42663811	0.000000	0.05858	0.130000	0.21974	0.381000	0.30169	1.087000	0.30865	1.520000	0.48965	0.563000	0.77884	GAC	-	NULL		0.597	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	C		-		44876519	-1	no_errors	ENST00000261866	ensembl	human	known	74_37	missense	SNP	0.009	A	A	44876519	C	A	44876519	3	1	186	1	0	0	0	0	1	0	0	0	15048	855	30	3	2016	3	SPG11	15	44876519	Missense_Mutation	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09	22022758	44876519	57654873	10	12917											
ABCC6	368	genome.wustl.edu	37	chr16	16248796	16248796	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcaatggggaccccgtcGatccagatcccaccctcagc	11	16	1	1			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr16:16248796G>A	ENST00000205557.7	-	28	4004	c.3975C>T	c.(3973-3975)atC>atT	p.I1325I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1325	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGACCCCGTCGATCCAGATCC	0.682																																																	0								ENSG00000091262						26	23	24					16																	16248796		2197	4298	6495	ABCC6	SO:0001819	synonymous_variant	0			-	HGNC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3975C>T	16.37:g.16248796G>A		Somatic	0	149	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	111	29.75	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.I1325	ENST00000205557.7	37	c.3975	CCDS10568.1	16																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.682	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	G		-		16248796	-1	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	SNP	0.995	A	A	16248796	G	A	16248796	2	1	186	1	0	0	0	0	0	0	0	1	57	1048	37	1		1	ABCC6	16	16248796	Silent	SNP	G	TCGA-MJ-A68J-01A-11D-A307-09		16248796	74105957	11	12918											
ISM1	140862	genome.wustl.edu	37	chr20	13279761	13279761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacttccgctggaaggaCgccagcgggcccaaggagaa	15	11	0	1	rs572363345		TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chr20:13279761C>T	ENST00000262487.4	+	6	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	350	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18261	0		0	False		,,,				2504	0																0								ENSG00000101230						41	47	45					20																	13279761		2144	4237	6381	ISM1	SO:0001819	synonymous_variant	0			-	HGNC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1050C>T	20.37:g.13279761C>T		Somatic	0	59	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	37.29	Q8WVH9	Silent	SNP							pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.D350	ENST00000262487.4	37	c.1050	CCDS46579.1	20																																																																																			-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	protein_coding	OTTHUMT00000078039.2	C		-		13279761	1	no_errors	ENST00000262487	ensembl	human	known	74_37	silent	SNP	0.980	T	T	13279761	C	T	13279761	2	4	186	1	0	0	0	0	0	0	0	1	7862	535	19	1		1	ISM1	20	13279761	Silent	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		13279761	49745759	12	12919											
RPL36A	6173	genome.wustl.edu	37	chrX	100646748	100646748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcgttttcccaggaaagCggcgttatgacaggaagcag	12	8	0	1			TCGA-MJ-A68J-01A-11D-A307-09	TCGA-MJ-A68J-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a0148d-ddbb-4cc7-9594-d3e6d2b2bf4a	8d0ec126-55e3-413c-bf42-fbaf91347ed4	g.chrX:100646748C>T	ENST00000553110.3	+	3	199	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	RPL36A_ENST00000427805.2_Missense_Mutation_p.R75W|RPL36A_ENST00000471855.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.S49S			P83881	RL36A_HUMAN	ribosomal protein L36a	39					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)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						CCCAGGAAAGCGGCGTTATGA	0.393																																																	0								ENSG00000241343						120	110	113					X																	100646748		2203	4300	6503	RPL36A	SO:0001583	missense	0			-	HGNC	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.115C>T	X.37:g.100646748C>T	ENSP00000446503:p.Arg39Trp	Somatic	0	148	0		0.58658402665593				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	113	31.93	P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP							pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd	p.R75W	ENST00000553110.3	37	c.223		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.67|15.67	2.901322|2.901322	0.52227|0.52227	.|.	.|.	ENSG00000241343|ENSG00000241343;ENSG00000241343;ENSG00000257529	ENST00000392994|ENST00000427805;ENST00000553110;ENST00000409338	.|T;T;T	.|0.80480	.|-1.38;-1.38;-1.38	5.85|5.85	3.87|3.87	0.44632|0.44632	.|Ribosomal protein, zinc-binding domain (1);	.|0.000000	.|0.64402	.|U	.|0.000006	D|D	0.86377|0.86377	0.5918|0.5918	H|H	0.96833|0.96833	3.89|3.89	0.38759|0.38759	D|D	0.954282|0.954282	.|B;B	.|0.12630	.|0.001;0.006	.|B;B	.|0.13407	.|0.001;0.009	D|D	0.86244|0.86244	0.1645|0.1645	5|10	.|0.56958	.|D	.|0.05	-15.317|-15.317	12.6959|12.6959	0.57003|0.57003	0.4636:0.5364:0.0:0.0|0.4636:0.5364:0.0:0.0	.|.	.|39;39	.|P83881;B2REA7	.|RL36A_HUMAN;.	V|W	57|75;39;50	.|ENSP00000404375:R75W;ENSP00000446503:R39W;ENSP00000386974:R50W	.|ENSP00000386974:R50W	A|R	+|+	2|1	0|2	RPL36A|RPL36A;RP1-164F3.9	100533404|100533404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.433000|3.433000	0.52834|0.52834	1.181000|1.181000	0.42912|0.42912	0.468000|0.468000	0.43344|0.43344	GCG|CGG	-	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd		0.393	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	RPL36A	protein_coding		C	NM_021029	-		100646748	1	no_errors	ENST00000427805	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100646748	C	T	100646748	3	4	186	1	0	0	0	0	1	0	0	0	13595	759	27	1	125	1	RPL36A	23	100646748	Missense_Mutation	SNP	C	TCGA-MJ-A68J-01A-11D-A307-09		100646748	54623812	13	12920											
TTN	7273	genome.wustl.edu	37	chr2	179598041	179598041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatgtgtattggccactgtCgtgcagctcagctgaataaa	10	8	1	1			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:179598041C>T	ENST00000591111.1	-	52	15252	c.15028G>A	c.(15028-15030)Gac>Aac	p.D5010N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D5327N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D4083N			Q8WZ42	TITIN_HUMAN	titin	12389	Ig-like 30.				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)			TGGCCACTGTCGTGCAGCTCA	0.398																																																	0								ENSG00000155657						91	89	89					2																	179598041		1854	4106	5960	TTN	SO:0001583	missense	0			-	HGNC	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.15028G>A	2.37:g.179598041C>T	ENSP00000465570:p.Asp5010Asn	Somatic	0	39	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	51	28.17	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D4083N	ENST00000591111.1	37	c.12247		2	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920557	0.52653	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93618	0.7962	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94846	0.8009	9	0.87932	D	0	.	20.1876	0.98223	0.0:1.0:0.0:0.0	.	5010	Q8WZ42	TITIN_HUMAN	N	4083	ENSP00000343764:D4083N	ENSP00000343764:D4083N	D	-	1	0	TTN	179306286	1.000000	0.71417	0.251000	0.24312	0.813000	0.45954	7.814000	0.86154	2.765000	0.95021	0.655000	0.94253	GAC	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179598041	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179598041	C	T	179598041	3	4	187	1	0	0	0	0	1	0	0	0	16742	884	31	1	88786	1	TTN	2	179598041	Missense_Mutation	SNP	C	TCGA-MJ-A850-01A-11D-A351-09		179598041	63601332	1	12921											
CCDC141	285025	genome.wustl.edu	37	chr2	179721056	179721057	+	Frame_Shift_Ins	INS	-	-	T													tcagattccgagatttttcaINStttttcttagtgtaattaaa							TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:179721056_179721057insT	ENST00000420890.2	-	18	2909_2910	c.2792_2793insA	c.(2791-2793)aatfs	p.N931fs	CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.N356fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	931										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGATTTTTCATTTTTCTTAGT	0.292																																																	0								ENSG00000163492																																			CCDC141	SO:0001589	frameshift_variant	0				HGNC	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2793dupA	2.37:g.179721061_179721061dupT	ENSP00000395995:p.Asn931fs	Somatic	0	56	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Ins	INS							pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N931fs	ENST00000420890.2	37	c.2793_2792		2																																																																																			-	NULL		0.292	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	protein_coding		-	NM_173648			179721057	-1	no_errors	ENST00000420890	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:1.000	T	T	179721057	-	T	179721056	7	5	187	1	0	1	1	0	0	0	0	0	2777	214	8	0	1583	0	CCDC141	2	179721056	Frame_Shift_Ins	INS	-	TCGA-MJ-A850-01A-11D-A351-09	123015	179721056	63478317	2	12922											
NEU4	129807	genome.wustl.edu	37	chr2	242755771	242755771	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctcgctgctccccgtGccccccgggcccaccctgct	10	23	0	0			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr2:242755771G>T	ENST00000391969.2	+	3	801	c.90G>T	c.(88-90)gtG>gtT	p.V30V	AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000404257.1_Silent_p.V42V|NEU4_ENST00000325935.6_Silent_p.V43V|NEU4_ENST00000407683.1_Silent_p.V30V|NEU4_ENST00000405370.1_Silent_p.V30V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	30					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGCTCCCCGTGCCCCCCGGGC	0.721																																																	0								ENSG00000204099						20	22	22					2																	242755771		2203	4299	6502	NEU4	SO:0001819	synonymous_variant	0			-	HGNC	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.90G>T	2.37:g.242755771G>T		Somatic	0	15	0		0.661744093399291	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	24.24	A8K056|J3KNJ5|Q96D64	Silent	SNP							superfamily_Sialidases	p.V43	ENST00000391969.2	37	c.129	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	G	6.882	0.532145	0.13127	.	.	ENSG00000204099	ENST00000472793	.	.	.	3.77	0.178	0.15058	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09952	-1.0651	5	0.07175	T	0.84	-8.0421	4.6184	0.12438	0.0912:0.3523:0.4293:0.1271	.	.	.	.	S	54	.	ENSP00000441629:A54S	A	+	1	0	NEU4	242404444	0.130000	0.22417	0.019000	0.16419	0.599000	0.36880	0.050000	0.14120	0.554000	0.29061	0.448000	0.29417	GCC	-	superfamily_Sialidases		0.721	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	protein_coding	OTTHUMT00000257270.2	G	NM_080741	-		242755771	1	no_errors	ENST00000325935	ensembl	human	known	74_37	silent	SNP	0.872	T	T	242755771	G	T	242755771	2	4	187	1	0	0	0	0	0	0	0	1	10346	1306	46	3		3	NEU4	2	242755771	Silent	SNP	G	TCGA-MJ-A850-01A-11D-A351-09	63034715	242755771	443602	3	12923											
ARHGEF37	389337	genome.wustl.edu	37	chr5	149001584	149001584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctccagagggaccttGcaaagcaagtgctgcagagg	13	11	0	3			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr5:149001584G>T	ENST00000333677.6	+	9	1457	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	432	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GAGGGACCTTGCAAAGCAAGT	0.602																																																	0								ENSG00000183111						31	37	35					5																	149001584		2086	4225	6311	ARHGEF37	SO:0001583	missense	0			-	HGNC	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1294G>T	5.37:g.149001584G>T	ENSP00000328083:p.Ala432Ser	Somatic	0	40	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	44	26.67	Q6ZW51	Missense_Mutation	SNP							pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.A432S	ENST00000333677.6	37	c.1294	CCDS43385.1	5	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212387	0.58452	.	.	ENSG00000183111	ENST00000333677	T	0.63580	-0.05	6.06	4.25	0.50352	BAR (2);	0.268905	0.41712	N	0.000837	T	0.75917	0.3915	M	0.79805	2.47	0.53005	D	0.999968	D	0.62365	0.991	P	0.60609	0.877	T	0.74612	-0.3607	10	0.22706	T	0.39	-0.8588	15.2436	0.73490	0.0:0.0:0.7426:0.2574	.	432	A1IGU5	ARH37_HUMAN	S	432	ENSP00000328083:A432S	ENSP00000328083:A432S	A	+	1	0	ARHGEF37	148981777	1.000000	0.71417	0.225000	0.23894	0.261000	0.26267	5.954000	0.70298	0.863000	0.35553	-0.181000	0.13052	GCA	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.602	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	protein_coding	OTTHUMT00000373763.1	G	NM_001001669	-		149001584	1	no_errors	ENST00000333677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149001584	G	T	149001584	3	4	187	1	0	0	0	0	1	0	0	0	906	1319	46	3	1324	3	ARHGEF37	5	149001584	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09		149001584	31913676	4	12924											
ODZ2	57451	genome.wustl.edu	37	chr5	167622271	167622271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcaagtacccaaaataCggctacaccatcacccgcca	5	15	2	0	rs375197936		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr5:167622271C>T	ENST00000518659.1	+	15	2910	c.2871C>T	c.(2869-2871)taC>taT	p.Y957Y	TENM2_ENST00000545108.1_Silent_p.Y957Y|TENM2_ENST00000403607.2_Silent_p.Y781Y|TENM2_ENST00000520394.1_Silent_p.Y725Y|TENM2_ENST00000519204.1_Silent_p.Y836Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	957					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)										ACCCAAAATACGGCTACACCA	0.532																																																	0								ENSG00000145934	C		0,3948		0,0,1974	76	80	78		2844	-4.4	0.8	5		78	1,8327		0,1,4163	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6137	TT,TC,CC		0.012,0.0,0.0081		948/2766	167622271	1,12275	1974	4164	6138	TENM2	SO:0001819	synonymous_variant	0			-	HGNC	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.2871C>T	5.37:g.167622271C>T		Somatic	0	109	0		0.661744093399291	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	131	37.85	Q9ULU2	Silent	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Y957	ENST00000518659.1	37	c.2871		5																																																																																			-	superfamily_CarboxyPept-like_regulatory,superfamily_ConA-like_lec_gl_sf		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	C	NM_001122679	-		167622271	1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	SNP	0.435	T	T	167622271	C	T	167622271	2	4	187	1	0	0	0	0	0	0	0	1	10837	547	19	1		1	ODZ2	5	167622271	Silent	SNP	C	TCGA-MJ-A850-01A-11D-A351-09	18620687	167622271	13292989	5	12925											
SMOC2	64094	genome.wustl.edu	37	chr6	168999641	168999641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggggtactgctggtgcGtcctggtggacacggggcgc	18	12	0	0	rs554225332		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr6:168999641G>A	ENST00000356284.2	+	8	1001	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	SMOC2_ENST00000354536.5_Missense_Mutation_p.V272I	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	261	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		CTGCTGGTGCGTCCTGGTGGA	0.647																																																	0								ENSG00000112562						62	50	54					6																	168999641		2203	4299	6502	SMOC2	SO:0001583	missense	0			-	HGNC	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.781G>A	6.37:g.168999641G>A	ENSP00000348630:p.Val261Ile	Somatic	0	38	0		0.661744093399291	15	42.31	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	64	37.25	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP							pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1	p.V272I	ENST00000356284.2	37	c.814	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758532	0.89843	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.79352	-1.26;-1.26	4.89	4.89	0.63831	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.244803	0.33327	N	0.005038	D	0.89319	0.6681	M	0.91612	3.225	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.91846	0.5487	10	0.87932	D	0	-0.028	17.1175	0.86694	0.0:0.0:1.0:0.0	.	261;272	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	I	261;272;261	ENSP00000348630:V261I;ENSP00000346537:V272I	ENSP00000346537:V272I	V	+	1	0	SMOC2	168741566	1.000000	0.71417	0.996000	0.52242	0.689000	0.40095	8.993000	0.93524	2.268000	0.75426	0.386000	0.25728	GTC	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1		0.647	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	protein_coding	OTTHUMT00000043201.1	G		-		168999641	1	no_errors	ENST00000354536	ensembl	human	known	74_37	missense	SNP	1.000	A	A	168999641	G	A	168999641	3	1	187	1	0	0	0	0	1	0	0	0	14810	1145	40	1	844	1	SMOC2	6	168999641	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09		168999641	2115426	6	12926											
TRPV6	55503	genome.wustl.edu	37	chr7	142569542	142569542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctcagggtcccttgcCgaagcctttcccaattggca	8	16	2	0			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr7:142569542C>T	ENST00000359396.3	-	15	2341	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	699	Interaction with calmodulin.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.R699P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTCCCTTGCCGAAGCCTTTC	0.577																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000165125						68	67	67					7																	142569542		2203	4300	6503	TRPV6	SO:0001583	missense	0			-	HGNC	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2096G>A	7.37:g.142569542C>T	ENSP00000352358:p.Arg699Gln	Somatic	0	66	0		0.661744093399291	2	71.43	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	46	45.24	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.R699Q	ENST00000359396.3	37	c.2096	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929884	0.92389	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.83075	-1.68	5.41	5.41	0.78517	.	0.137650	0.49305	D	0.000148	D	0.91442	0.7299	M	0.83223	2.63	0.41873	D	0.990287	D	0.89917	1.0	D	0.91635	0.999	D	0.91807	0.5456	10	0.49607	T	0.09	-30.0857	16.3396	0.83078	0.0:1.0:0.0:0.0	.	699	Q9H1D0	TRPV6_HUMAN	Q	699;531	ENSP00000352358:R699Q	ENSP00000310825:R531Q	R	-	2	0	TRPV6	142279664	0.962000	0.33011	0.875000	0.34327	0.806000	0.45545	2.535000	0.45685	2.542000	0.85734	0.561000	0.74099	CGG	-	prints_TRPV6_channel,tigrfam_TRP_channel		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	protein_coding	OTTHUMT00000347662.1	C	NM_014274	-		142569542	-1	no_errors	ENST00000359396	ensembl	human	known	74_37	missense	SNP	0.904	T	T	142569542	C	T	142569542	3	4	187	1	0	0	0	0	1	0	0	0	16607	652	23	1	85	1	TRPV6	7	142569542	Missense_Mutation	SNP	C	TCGA-MJ-A850-01A-11D-A351-09		142569542	16569121	7	12927											
GRIN3A	116443	genome.wustl.edu	37	chr9	104449124	104449124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaatctcccagcacccaaCgaagttcagggggcatgacc	12	13	2	1			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr9:104449124C>T	ENST00000361820.3	-	2	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CAGCACCCAACGAAGTTCAGG	0.512																																																	0								ENSG00000198785						66	61	63					9																	104449124		2203	4300	6503	GRIN3A	SO:0001583	missense	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1058G>A	9.37:g.104449124C>T	ENSP00000355155:p.Arg353His	Somatic	0	70	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	48	55.86	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.R353H	ENST00000361820.3	37	c.1058	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110366	0.08780	.	.	ENSG00000198785	ENST00000361820	D	0.85955	-2.05	5.83	-11.7	0.00046	.	0.446510	0.23680	N	0.045624	T	0.47911	0.1471	N	0.00583	-1.355	0.21290	N	0.99974	B	0.02656	0.0	B	0.04013	0.001	T	0.53528	-0.8426	10	0.14656	T	0.56	.	13.1343	0.59402	0.0:0.5432:0.0946:0.3622	.	353	Q8TCU5	NMD3A_HUMAN	H	353	ENSP00000355155:R353H	ENSP00000355155:R353H	R	-	2	0	GRIN3A	103488945	0.904000	0.30761	0.002000	0.10522	0.566000	0.35808	0.154000	0.16343	-2.853000	0.00330	-1.008000	0.02478	CGT	-	superfamily_Peripla_BP_I		0.512	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	C		-		104449124	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	SNP	0.139	T	T	104449124	C	T	104449124	3	4	187	1	0	0	0	0	1	0	0	0	6785	536	19	1	2321	1	GRIN3A	9	104449124	Missense_Mutation	SNP	C	TCGA-MJ-A850-01A-11D-A351-09		104449124	36764307	8	12928											
OR5M10	390167	genome.wustl.edu	37	chr11	56344977	56344977	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttggagtaacattggaaGaatagcaaatgtctacaaag	9	4	1	1			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr11:56344977G>T	ENST00000526812.2	-	1	286	c.221C>A	c.(220-222)tCt>tAt	p.S74Y		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	74						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(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AACATTGGAAGAATAGCAAAT	0.458																																																	0								ENSG00000254834						146	139	141					11																	56344977		1940	4132	6072	OR5M10	SO:0001583	missense	0			-	HGNC	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.221C>A	11.37:g.56344977G>T	ENSP00000436004:p.Ser74Tyr	Somatic	0	66	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	89	31.06	B9EIL9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74Y	ENST00000526812.2	37	c.221	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990503	0.18966	.	.	ENSG00000254834	ENST00000526812	T	0.00840	5.63	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07279	0.0184	H	0.96777	3.88	0.09310	N	1	D	0.63880	0.993	D	0.63033	0.91	T	0.22487	-1.0215	9	0.87932	D	0	.	5.8017	0.18417	0.1071:0.2004:0.6925:0.0	.	74	Q6IEU7	OR5MA_HUMAN	Y	74	ENSP00000436004:S74Y	ENSP00000436004:S74Y	S	-	2	0	OR5M10	56101553	0.000000	0.05858	0.302000	0.25058	0.124000	0.20399	0.441000	0.21611	2.180000	0.69256	0.632000	0.83419	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	protein_coding	OTTHUMT00000391609.1	G	NM_001004741	-		56344977	-1	no_errors	ENST00000526812	ensembl	human	known	74_37	missense	SNP	0.000	T	T	56344977	G	T	56344977	3	4	187	1	0	0	0	0	1	0	0	0	11175	942	33	3	730	3	OR5M10	11	56344977	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09		56344977	78661539	9	12929											
SLC22A8	9376	genome.wustl.edu	37	chr11	62767307	62767307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcaggatgggcctgcGgccaaacctgtagctcgaag	15	11	1	0	rs45566039		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr11:62767307G>A	ENST00000336232.2	-	4	580	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	SLC22A8_ENST00000545207.1_Missense_Mutation_p.R58C|SLC22A8_ENST00000430500.2_Missense_Mutation_p.R149C|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Missense_Mutation_p.R26C|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R149C	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	149			R -> S (complete loss of function; dbSNP:rs45566039). {ECO:0000269|PubMed:16291576}.		glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATGGGCCTGCGGCCAAACCTG	0.627																																																	0								ENSG00000149452						32	33	32					11																	62767307		2201	4298	6499	SLC22A8	SO:0001583	missense	0			-	HGNC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.445C>T	11.37:g.62767307G>A	ENSP00000337335:p.Arg149Cys	Somatic	0	70	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	63	41.82	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R149C	ENST00000336232.2	37	c.445	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475720	0.63737	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.31	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.056144	0.64402	D	0.000001	D	0.93625	0.7964	H	0.97051	3.93	0.54753	D	0.999981	D;D	0.63880	0.992;0.993	P;D	0.64877	0.885;0.93	D	0.93871	0.7162	10	0.72032	D	0.01	.	9.8815	0.41236	0.0:0.0:0.6286:0.3714	.	149;149	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	C	149;135;58;26;149;149	ENSP00000337335:R149C;ENSP00000441658:R58C;ENSP00000443368:R26C;ENSP00000311463:R149C;ENSP00000398548:R149C	ENSP00000311463:R149C	R	-	1	0	SLC22A8	62523883	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.824000	0.62701	1.175000	0.42826	0.511000	0.50034	CGC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.627	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	G	NM_004254	-		62767307	-1	no_errors	ENST00000336232	ensembl	human	known	74_37	missense	SNP	0.998	A	A	62767307	G	A	62767307	3	1	187	1	0	0	0	0	1	0	0	0	14468	1116	39	1	1215	1	SLC22A8	11	62767307	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09	6422330	62767307	72239209	10	12930											
WFIKKN1	117166	genome.wustl.edu	37	chr16	683788	683788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcgcccgcgtggcgctcGaggacgtgctcaaggatgac	15	13	1	1			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr16:683788G>A	ENST00000319070.2	+	2	1700	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	460	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CGTGGCGCTCGAGGACGTGCT	0.687																																																	0								ENSG00000127578						55	31	39					16																	683788		2172	4287	6459	WFIKKN1	SO:0001583	missense	0			-	HGNC	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1378G>A	16.37:g.683788G>A	ENSP00000324763:p.Glu460Lys	Somatic	0	54	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	56	52.54	Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP							pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.E460K	ENST00000319070.2	37	c.1378	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	15.21	2.765717	0.49574	.	.	ENSG00000127578	ENST00000319070	T	0.19938	2.11	5.31	5.31	0.75309	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.320980	0.32416	N	0.006127	T	0.22166	0.0534	L	0.54323	1.7	0.38726	D	0.953551	P	0.36944	0.574	B	0.28784	0.094	T	0.11203	-1.0597	10	0.66056	D	0.02	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	460	Q96NZ8	WFKN1_HUMAN	K	460	ENSP00000324763:E460K	ENSP00000324763:E460K	E	+	1	0	WFIKKN1	623789	1.000000	0.71417	0.097000	0.21041	0.009000	0.06853	7.665000	0.83852	2.480000	0.83734	0.556000	0.70494	GAG	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain		0.687	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	protein_coding	OTTHUMT00000206731.2	G	NM_053284	-		683788	1	no_errors	ENST00000319070	ensembl	human	known	74_37	missense	SNP	0.994	A	A	683788	G	A	683788	3	1	187	1	0	0	0	0	1	0	0	0	17365	1059	37	1	1384	1	WFIKKN1	16	683788	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09		683788	89670965	11	12931											
ABCA9	10350	genome.wustl.edu	37	chr17	66988407	66988407	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagaaaatgaaggtaagGctagggaaaaagaaagacaa	12	2	0	4			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:66988407G>A	ENST00000340001.4	-	28	3836	c.3625C>T	c.(3625-3627)Cct>Tct	p.P1209S	ABCA9_ENST00000453985.2_Splice_Site_p.P1171S|ABCA9_ENST00000370732.2_Splice_Site_p.P1209S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1209					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGGTAAGGCTAGGGAAAA	0.308																																																	0								ENSG00000154258																																			ABCA9	SO:0001630	splice_region_variant	0			-	HGNC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3625-1C>T	17.37:g.66988407G>A		Somatic	0	118	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	121	35.29	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1209S	ENST00000340001.4	37	c.3625	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301610	0.60195	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86497	-2.13;-2.13	5.4	4.44	0.53790	.	0.000000	0.47455	D	0.000235	D	0.92691	0.7677	M	0.81614	2.55	0.46113	D	0.998876	D;D	0.69078	0.997;0.965	P;D	0.68192	0.902;0.956	D	0.93103	0.6510	10	0.62326	D	0.03	.	13.0531	0.58966	0.0774:0.0:0.9226:0.0	.	1209;1209	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1209;1154;1209	ENSP00000342216:P1209S;ENSP00000359767:P1209S	ENSP00000342216:P1209S	P	-	1	0	ABCA9	64500002	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	5.284000	0.65627	1.293000	0.44690	0.591000	0.81541	CCT	-	NULL		0.308	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	protein_coding	OTTHUMT00000277072.2	G	NM_172386	-	Missense_Mutation	66988407	-1	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66988407	G	A	66988407	5	1	187	1	0	0	0	0	0	0	1	0	39	1217	42	2	1297	2	ABCA9	17	66988407	Splice_Site	SNP	G	TCGA-MJ-A850-01A-11D-A351-09		66988407	14206803	12	12932											
EIF4A3	9775	genome.wustl.edu	37	chr17	78111251	78111251	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggcatgtctccatgcattGaggatacagtgaagttggct	14	7	1	2			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:78111251G>A	ENST00000269349.3	-	9	1138	c.917C>T	c.(916-918)tCa>tTa	p.S306L		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	306	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCCATGCATTGAGGATACAGT	0.532																																																	0								ENSG00000141543						147	113	124					17																	78111251		2203	4300	6503	EIF4A3	SO:0001583	missense	0			-	HGNC	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.917C>T	17.37:g.78111251G>A	ENSP00000269349:p.Ser306Leu	Somatic	0	37	0		0.661744093399291	294	47.23	264	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	45	36.62	Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S306L	ENST00000269349.3	37	c.917	CCDS11767.1	17	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456867	0.63401	.	.	ENSG00000141543	ENST00000269349	T	0.74947	-0.89	4.48	4.48	0.54585	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	N	0.05330	-0.07	0.80722	D	1	P	0.41978	0.767	P	0.47915	0.561	T	0.72883	-0.4157	10	0.87932	D	0	-18.4711	14.6759	0.68978	0.0:0.0:1.0:0.0	.	306	P38919	IF4A3_HUMAN	L	306	ENSP00000269349:S306L	ENSP00000269349:S306L	S	-	2	0	EIF4A3	75725846	1.000000	0.71417	0.521000	0.27850	0.157000	0.22087	7.317000	0.79018	2.333000	0.79357	0.650000	0.86243	TCA	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.532	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A3	protein_coding	OTTHUMT00000437446.1	G	NM_014740	-		78111251	-1	no_errors	ENST00000269349	ensembl	human	known	74_37	missense	SNP	0.986	A	A	78111251	G	A	78111251	3	1	187	1	0	0	0	0	1	0	0	0	5028	1294	45	2	334	2	EIF4A3	17	78111251	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09	11122844	78111251	3083959	13	12933											
RNF213	57674	genome.wustl.edu	37	chr17	78337533	78337533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgctggagctcatctgctCcgatgagcacatgcaaggca	12	13	2	1			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr17:78337533C>T	ENST00000582970.1	+	41	11836	c.11693C>T	c.(11692-11694)tCc>tTc	p.S3898F	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S3947F|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S1971F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3898					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)			CTCATCTGCTCCGATGAGCAC	0.612																																																	0								ENSG00000173821						67	47	54					17																	78337533		2203	4300	6503	RNF213	SO:0001583	missense	0			-	HGNC	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.11693C>T	17.37:g.78337533C>T	ENSP00000464087:p.Ser3898Phe	Somatic	0	30	0		0.661744093399291	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	26	50.00	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S3898F	ENST00000582970.1	37	c.11693	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594943	0.46318	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25749	1.78	5.03	5.03	0.67393	.	0.660669	0.14902	N	0.291741	T	0.51295	0.1666	M	0.77616	2.38	0.23537	N	0.99746	D;D	0.67145	0.996;0.995	D;P	0.65874	0.939;0.862	T	0.45731	-0.9241	10	0.87932	D	0	.	14.2193	0.65815	0.159:0.841:0.0:0.0	.	3947;1971	C9JCP4;Q63HN8	.;RN213_HUMAN	F	3898;3947;1971	ENSP00000338218:S1971F	ENSP00000338218:S1971F	S	+	2	0	RNF213	75952128	0.422000	0.25473	0.025000	0.17156	0.002000	0.02628	3.618000	0.54188	2.327000	0.79052	0.655000	0.94253	TCC	-	superfamily_P-loop_NTPase		0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	C	NM_020914	-		78337533	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	0.550	T	T	78337533	C	T	78337533	3	4	187	1	0	0	0	0	1	0	0	0	13485	855	30	2	12170	2	RNF213	17	78337533	Missense_Mutation	SNP	C	TCGA-MJ-A850-01A-11D-A351-09	226282	78337533	2857677	14	12934											
DSG2	1829	genome.wustl.edu	37	chr18	29110997	29110997	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgacttcagtgttattgtCgctaataaagcagcttttca	7	8	2	1	rs369233023		TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr18:29110997C>T	ENST00000261590.8	+	9	1271	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	354	Cadherin 3. {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)			GTGTTATTGTCGCTAATAAAG	0.358																																																	0								ENSG00000046604	C		0,3672		0,0,1836	117	106	110		1062	5.1	1	18		110	1,8181		0,1,4090	no	coding-synonymous	DSG2	NM_001943.3		0,1,5926	TT,TC,CC		0.0122,0.0,0.0084		354/1119	29110997	1,11853	1836	4091	5927	DSG2	SO:0001819	synonymous_variant	0			-	HGNC	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.1062C>T	18.37:g.29110997C>T		Somatic	0	77	0		0.661744093399291	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	111	9.02	Q4KKU6	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.V354	ENST00000261590.8	37	c.1062	CCDS42423.1	18																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.358	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	C	NM_001943	-		29110997	1	no_errors	ENST00000261590	ensembl	human	known	74_37	silent	SNP	1.000	T	T	29110997	C	T	29110997	2	4	187	1	0	0	0	0	0	0	0	1	4779	871	31	1		1	DSG2	18	29110997	Silent	SNP	C	TCGA-MJ-A850-01A-11D-A351-09		29110997	48966251	15	12935											
RFPL3	10738	genome.wustl.edu	37	chr22	32756308	32756308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacgacctcaggagcgtccGaagtgggctcatcacacaga	12	12	3	2			TCGA-MJ-A850-01A-11D-A351-09	TCGA-MJ-A850-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d289c714-de51-4192-b307-cf57ec494693	dabaf5ab-f08d-4984-8455-34dbe2b3ee72	g.chr22:32756308G>A	ENST00000249007.4	+	2	648	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Missense_Mutation_p.R119Q|RFPL3_ENST00000382088.3_Missense_Mutation_p.R119Q|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	148	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AGGAGCGTCCGAAGTGGGCTC	0.537																																																	0								ENSG00000128276						137	123	128					22																	32756308		2203	4300	6503	RFPL3	SO:0001583	missense	0			-	HGNC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.443G>A	22.37:g.32756308G>A	ENSP00000249007:p.Arg148Gln	Somatic	0	128	0		0.661744093399291	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	198	11.21	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP							pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.R148Q	ENST00000249007.4	37	c.443	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415207	0.11870	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.12465	2.68;2.68;2.68	0.664	0.664	0.17890	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.10680	0.0261	L	0.48986	1.54	0.09310	N	0.999999	P	0.42078	0.77	B	0.33690	0.168	T	0.20405	-1.0276	9	0.52906	T	0.07	.	7.1611	0.25664	1.0E-4:0.0:0.9999:0.0	.	148	O75679	RFPL3_HUMAN	Q	119;148;119	ENSP00000380609:R119Q;ENSP00000249007:R148Q;ENSP00000371520:R119Q	ENSP00000249007:R148Q	R	+	2	0	RFPL3	31086308	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	0.174000	0.16743	0.624000	0.30286	0.194000	0.17425	CGA	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	protein_coding	OTTHUMT00000075172.3	G	NM_006604	-		32756308	1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	SNP	0.084	A	A	32756308	G	A	32756308	3	1	187	1	0	0	0	0	1	0	0	0	13263	1058	37	1	449	1	RFPL3	22	32756308	Missense_Mutation	SNP	G	TCGA-MJ-A850-01A-11D-A351-09		32756308	18548258	16	12936											
TMEM57	55219	genome.wustl.edu	37	chr1	25815701	25815701	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttacggaatcggatcagaGaactagaagcagagggcaag	13	8	1	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr1:25815701G>T	ENST00000374343.4	+	9	1713	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*	TMEM57_ENST00000399763.3_Nonsense_Mutation_p.E154*|TMEM57_ENST00000399766.3_Nonsense_Mutation_p.E285*	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	512					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.E512*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATCAGAGAACTAGAAGC	0.438																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000204178						102	101	101					1																	25815701		2203	4300	6503	TMEM57	SO:0001587	stop_gained	0			-	HGNC	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1534G>T	1.37:g.25815701G>T	ENSP00000363463:p.Glu512*	Somatic	0	20	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Nonsense_Mutation	SNP	41	0	0	44	0.00	0	pfam_Macoilin,superfamily_Prefoldin	p.E512*	ENST00000374343.4	37	c.1534	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.306135	0.98200	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-18.7713	19.5674	0.95401	0.0:0.0:1.0:0.0	.	.	.	.	X	285;154;512	.	ENSP00000363463:E512X	E	+	1	0	TMEM57	25688288	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.309000	0.96252	2.873000	0.98535	0.561000	0.74099	GAA	-	pfam_Macoilin,superfamily_Prefoldin		0.438	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	protein_coding	OTTHUMT00000009659.2	G	NM_018202	-		25815701	1	no_errors	ENST00000374343	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	25815701	G	T	25815701	4	4	188	1	0	0	0	0	0	1	0	0	16191	943	33	3	1568	3	TMEM57	1	25815701	Nonsense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		25815701	223434920	1	12937											
OSCP1	127700	genome.wustl.edu	37	chr1	36888969	36888969	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttgggaattcacctgatGagtcctggaacttcagttcc	10	9	2	2			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr1:36888969G>A	ENST00000356637.5	-	6	708	c.645C>T	c.(643-645)ctC>ctT	p.L215L	OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Silent_p.L205L|OSCP1_ENST00000433045.2_Silent_p.L160L|OSCP1_ENST00000315643.9_Silent_p.L215L			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	215					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TTCACCTGATGAGTCCTGGAA	0.507																																																	0								ENSG00000116885						80	82	81					1																	36888969		2203	4300	6503	OSCP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.645C>T	1.37:g.36888969G>A		Somatic	0	45	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Silent	SNP	23	0	0	23	0.00	0	pfam_OSCP1	p.L205	ENST00000356637.5	37	c.615		1																																																																																			-	NULL		0.507	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	protein_coding	OTTHUMT00000389759.1	G	NM_145047	-		36888969	-1	no_errors	ENST00000235532	ensembl	human	known	74_37	silent	SNP	1.000	A	A	36888969	G	A	36888969	2	1	188	1	0	0	0	0	0	0	0	1	11288	1277	45	2		2	OSCP1	1	36888969	Silent	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	11073268	36888969	212361652	2	12938											
C1orf168	199920	genome.wustl.edu	37	chr1	57233543	57233543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaggttaatggagttgCcagagtgtctcagatatgaa	12	6	1	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr1:57233543C>T	ENST00000343433.6	-	5	1102	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	341										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						AATGGAGTTGCCAGAGTGTCT	0.368																																																	0								ENSG00000187889						161	144	150					1																	57233543		2203	4300	6503	C1orf168	SO:0001583	missense	0			-	HGNC	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.1022G>A	1.37:g.57233543C>T	ENSP00000345972:p.Gly341Asp	Somatic	0	40	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	26	0	0	43	0.00	0	superfamily_SH3_domain	p.G341D	ENST00000343433.6	37	c.1022	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547199	0.65311	.	.	ENSG00000187889	ENST00000343433	T	0.36157	1.27	5.28	3.27	0.37495	.	0.365585	0.23736	N	0.045063	T	0.33673	0.0871	L	0.27053	0.805	0.30459	N	0.774452	D	0.63046	0.992	P	0.59357	0.856	T	0.13683	-1.0500	10	0.14252	T	0.57	-0.5641	6.6224	0.22810	0.0:0.785:0.0:0.215	.	341	Q5VWT5	CA168_HUMAN	D	341	ENSP00000345972:G341D	ENSP00000345972:G341D	G	-	2	0	C1orf168	57006131	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.332000	0.33805	1.453000	0.47775	0.650000	0.86243	GGC	-	NULL		0.368	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	protein_coding	OTTHUMT00000022751.2	C	NM_001004303	-		57233543	-1	no_errors	ENST00000343433	ensembl	human	known	74_37	missense	SNP	0.999	T	T	57233543	C	T	57233543	3	4	188	1	0	0	0	0	1	0	0	0	2014	739	26	2	1228	2	C1orf168	1	57233543	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	20344574	57233543	192017078	3	12939											
ELTD1	64123	genome.wustl.edu	37	chr1	79402057	79402057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcatatgaggatgaataTgtttcatgttatatgaatca	7	3	3	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr1:79402057T>C	ENST00000370742.3	-	7	863	c.800A>G	c.(799-801)cAt>cGt	p.H267R		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	267					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGATGAATATGTTTCATGTT	0.264																																																	0								ENSG00000162618						63	65	64					1																	79402057		1789	4014	5803	ELTD1	SO:0001583	missense	0			-	HGNC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.800A>G	1.37:g.79402057T>C	ENSP00000359778:p.His267Arg	Somatic	0	53	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	10	47.37	B1AR71|Q5KU34	Missense_Mutation	SNP	29	0	0	30	40.38	21	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.H267R	ENST00000370742.3	37	c.800	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	4.736	0.136844	0.09032	.	.	ENSG00000162618	ENST00000370742	T	0.09350	2.99	5.86	2.26	0.28386	Domain of unknown function DUF3497 (1);	0.376693	0.29932	N	0.010823	T	0.03348	0.0097	L	0.55481	1.735	0.25284	N	0.989416	B	0.30870	0.298	B	0.30495	0.116	T	0.41822	-0.9487	9	.	.	.	.	7.683	0.28524	0.0:0.137:0.115:0.748	.	267	Q9HBW9	ELTD1_HUMAN	R	267	ENSP00000359778:H267R	.	H	-	2	0	ELTD1	79174645	0.998000	0.40836	0.032000	0.17829	0.150000	0.21749	1.332000	0.33805	-0.078000	0.12730	-1.042000	0.02369	CAT	-	pfam_DUF3497		0.264	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	protein_coding	OTTHUMT00000026859.1	T	NM_022159	-		79402057	-1	no_errors	ENST00000370742	ensembl	human	known	74_37	missense	SNP	0.976	C	C	79402057	T	C	79402057	3	2	188	1	0	0	0	0	1	0	0	0	5086	1464	51	5	1308	5	ELTD1	1	79402057	Missense_Mutation	SNP	T	TCGA-MO-A47R-01A-11D-A24N-09	22168514	79402057	169848564	4	12940											
FLG	2312	genome.wustl.edu	37	chr1	152281987	152281987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgtgcctgctcgtggcggGatctttgtcttcctccagtg	12	13	2	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr1:152281987G>A	ENST00000368799.1	-	3	5410	c.5375C>T	c.(5374-5376)tCc>tTc	p.S1792F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1792	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)			CTCGTGGCGGGATCTTTGTCT	0.602									Ichthyosis																																								0								ENSG00000143631						240	248	245					1																	152281987		2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.5375C>T	1.37:g.152281987G>A	ENSP00000357789:p.Ser1792Phe	Somatic	1	188	0.53		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	142	28.36	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	23	0	0	18	37.93	11	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1792F	ENST00000368799.1	37	c.5375	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477417	0.26511	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03801	3.8	4.33	-0.424	0.12321	.	.	.	.	.	T	0.08537	0.0212	M	0.80982	2.52	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.07028	-1.0794	9	0.87932	D	0	.	7.3343	0.26601	0.0:0.3224:0.4067:0.2709	.	1792	P20930	FILA_HUMAN	F	1792;27	ENSP00000357789:S1792F	ENSP00000271820:S27F	S	-	2	0	FLG	150548611	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.187000	0.03067	-0.132000	0.11557	0.558000	0.71614	TCC	-	NULL		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	-		152281987	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	A	A	152281987	G	A	152281987	3	1	188	1	0	0	0	0	1	0	0	0	5924	1174	41	2	6814	2	FLG	1	152281987	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	72879930	152281987	96968634	5	12941											
ASXL2	55252	genome.wustl.edu	37	chr2	25966595	25966595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actagcatctgtctttgatgAggctgaagggttaggtatat	12	5	2	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr2:25966595A>T	ENST00000435504.4	-	13	2904	c.2611T>A	c.(2611-2613)Tca>Aca	p.S871T	ASXL2_ENST00000336112.4_Missense_Mutation_p.S843T|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	871					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)					GTCTTTGATGAGGCTGAAGGG	0.478																																																	0								ENSG00000143970						116	117	117					2																	25966595		2039	4188	6227	ASXL2	SO:0001583	missense	0			-	HGNC			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.2611T>A	2.37:g.25966595A>T	ENSP00000391447:p.Ser871Thr	Somatic	0	45	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	70	21.35	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	34	0	0	52	18.46	12	superfamily_Znf_FYVE_PHD	p.S871T	ENST00000435504.4	37	c.2611		2	.	.	.	.	.	.	.	.	.	.	A	8.823	0.938146	0.18206	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.21361	2.01;2.01	5.57	4.47	0.54385	.	0.999489	0.08097	N	0.998477	T	0.21145	0.0509	L	0.51422	1.61	0.09310	N	0.999999	B	0.29716	0.255	B	0.27262	0.078	T	0.18429	-1.0337	10	0.87932	D	0	-3.1847	6.8945	0.24249	0.7205:0.1914:0.088:0.0	.	871	Q76L83	ASXL2_HUMAN	T	871;843	ENSP00000391447:S871T;ENSP00000337250:S843T	ENSP00000337250:S843T	S	-	1	0	ASXL2	25820099	0.993000	0.37304	0.165000	0.22776	0.270000	0.26580	0.804000	0.27098	2.117000	0.64856	0.460000	0.39030	TCA	-	NULL		0.478	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	protein_coding	OTTHUMT00000325593.3	A	NM_018263	-		25966595	-1	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	SNP	0.004	T	T	25966595	A	T	25966595	3	4	188	1	0	0	0	0	1	0	0	0	1067	304	11	5	1700	5	ASXL2	2	25966595	Missense_Mutation	SNP	A	TCGA-MO-A47R-01A-11D-A24N-09		25966595	217232778	6	12942											
ASPRV1	151516	genome.wustl.edu	37	chr2	70188027	70188027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgccttcagcttcagcTtgcctagggacaccgctgta	10	13	2	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr2:70188027T>C	ENST00000320256.4	-	1	1370	c.794A>G	c.(793-795)aAg>aGg	p.K265R	PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CAGCTTCAGCTTGCCTAGGGA	0.537																																																	0								ENSG00000244617						114	97	103					2																	70188027		2203	4300	6503	ASPRV1	SO:0001583	missense	0			-	HGNC	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.794A>G	2.37:g.70188027T>C	ENSP00000315383:p.Lys265Arg	Somatic	0	36	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.58		Missense_Mutation	SNP	33	0	0	53	23.19	16	pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat	p.K265R	ENST00000320256.4	37	c.794	CCDS1897.1	2	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341310	0.60963	.	.	ENSG00000244617	ENST00000320256	T	0.48201	0.82	5.09	3.93	0.45458	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.122355	0.33772	N	0.004564	T	0.40670	0.1126	N	0.14661	0.345	0.29285	N	0.869747	P	0.51240	0.943	P	0.54060	0.741	T	0.30119	-0.9989	10	0.49607	T	0.09	-20.1711	8.9965	0.36055	0.0:0.0:0.1864:0.8136	.	265	Q53RT3	APRV1_HUMAN	R	265	ENSP00000315383:K265R	ENSP00000315383:K265R	K	-	2	0	ASPRV1	70041531	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	1.655000	0.37345	0.950000	0.37743	0.533000	0.62120	AAG	-	pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat		0.537	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPRV1	protein_coding	OTTHUMT00000334161.1	T	NM_152792	-		70188027	-1	no_errors	ENST00000320256	ensembl	human	known	74_37	missense	SNP	0.999	C	C	70188027	T	C	70188027	3	2	188	1	0	0	0	0	1	0	0	0	1058	1609	56	5	241	5	ASPRV1	2	70188027	Missense_Mutation	SNP	T	TCGA-MO-A47R-01A-11D-A24N-09	44221432	70188027	173011346	7	12943											
CNGA3	1261	genome.wustl.edu	37	chr2	99012463	99012463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaagtgaggttcaaccGcctactgaagttttcccggc	10	13	1	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr2:99012463G>A	ENST00000272602.2	+	7	869	c.830G>A	c.(829-831)cGc>cAc	p.R277H	CNGA3_ENST00000436404.2_Missense_Mutation_p.R259H|CNGA3_ENST00000409937.1_Missense_Mutation_p.R281H|CNGA3_ENST00000393504.1_Missense_Mutation_p.R277H			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	277			R -> C (in ACHM2; also found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:18521937, ECO:0000269|PubMed:24903488}.|R -> H (in ACHM2; also found in patients with cone-rod dystrophy; does not form functional homomeric or heteromeric channels). {ECO:0000269|PubMed:11536077, 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						AGGTTCAACCGCCTACTGAAG	0.498																																																	0			GRCh37	CM014539	CNGA3	M		ENSG00000144191						89	81	84					2																	99012463		2203	4300	6503	CNGA3	SO:0001583	missense	0			-	HGNC	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.830G>A	2.37:g.99012463G>A	ENSP00000272602:p.Arg277His	Somatic	0	47	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	26	0	0	34	48.48	32	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R277H	ENST00000272602.2	37	c.830	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577406	0.86645	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97631	1.0142	10	0.87932	D	0	.	17.5731	0.87940	0.0:0.0:1.0:0.0	.	281;259;277	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	H	277;259;277;281	ENSP00000377140:R277H;ENSP00000410070:R259H;ENSP00000272602:R277H;ENSP00000386761:R281H	ENSP00000272602:R277H	R	+	2	0	CNGA3	98378895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.677000	0.91161	0.563000	0.77884	CGC	-	pfam_Ion_trans_dom		0.498	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	G	NM_001298	-		99012463	1	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99012463	G	A	99012463	3	1	188	1	0	0	0	0	1	0	0	0	3600	1087	38	1	856	1	CNGA3	2	99012463	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	28824436	99012463	144186910	8	12944											
FOXD4L1	200350	genome.wustl.edu	37	chr2	114257443	114257443	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgtaggaagcgtttcAagcgccaccaactgaccccg	11	15	1	1	rs377465547	byFrequency	TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr2:114257443A>C	ENST00000306507.5	+	1	783	c.610A>C	c.(610-612)Aag>Cag	p.K204Q		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	204					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K204Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAAGCGTTTCAAGCGCCACCA	0.682													.|||	1167	0.233027	0.1029	0.3184	5008	,	,		11316	0.501		0.1302	False		,,,				2504	0.1779																1	Substitution - Missense(1)	breast(1)						ENSG00000184492	A	GLN/LYS	1,2995		0,1,1497	16	22	20		610	2.6	1	2		20	1,6035		0,1,3017	no	missense	FOXD4L1	NM_012184.4	53	0,2,4514	CC,CA,AA		0.0166,0.0334,0.0221	benign	204/409	114257443	2,9030	1498	3018	4516	FOXD4L1	SO:0001583	missense	0			-	HGNC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.610A>C	2.37:g.114257443A>C	ENSP00000302756:p.Lys204Gln	Somatic	0	48	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	64	11.11	B3KWN1|B9EGF3	Missense_Mutation	SNP	15	6.25	1	10	33.33	5	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K204Q	ENST00000306507.5	37	c.610	CCDS2117.1	2	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234654	0.39498	3.34E-4	1.66E-4	ENSG00000184492	ENST00000306507	D	0.96168	-3.93	2.57	2.57	0.30868	.	0.000000	0.35378	U	0.003255	D	0.89546	0.6746	N	0.20986	0.625	0.49798	D	0.999826	B	0.25563	0.129	B	0.25614	0.062	D	0.85812	0.1380	10	0.48119	T	0.1	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	204	Q9NU39	FX4L1_HUMAN	Q	204	ENSP00000302756:K204Q	ENSP00000302756:K204Q	K	+	1	0	FOXD4L1	113973913	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	8.525000	0.90583	1.190000	0.43042	0.155000	0.16302	AAG	-	NULL		0.682	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	protein_coding	OTTHUMT00000254148.1	A	NM_012184	-		114257443	1	no_errors	ENST00000306507	ensembl	human	known	74_37	missense	SNP	1.000	C	C	114257443	A	C	114257443	3	2	188	1	0	0	0	0	1	0	0	0	6002	131	5	5	612	5	FOXD4L1	2	114257443	Missense_Mutation	SNP	A	TCGA-MO-A47R-01A-11D-A24N-09	15244980	114257443	128941930	9	12945											
NEB	4703	genome.wustl.edu	37	chr2	152581369	152581369	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatccatatcattgccttAccttactgacttgctgcgac	6	14	1	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr2:152581369A>C	ENST00000172853.10	-	7	655		c.e7+1		NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						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)		TCATTGCCTTACCTTACTGAC	0.443																																																	0								ENSG00000183091						221	197	205					2																	152581369		2052	4215	6267	NEB	SO:0001630	splice_region_variant	0			-	HGNC	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.507+1T>G	2.37:g.152581369A>C		Somatic	0	101	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	83	42.86	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	40	0	0	39	45.83	33	-	e5+2	ENST00000172853.10	37	c.507+2		2	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610296	0.66558	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	.	.	.	5.41	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.844	0.52374	0.8686:0.0:0.0:0.1314	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152289615	1.000000	0.71417	0.992000	0.48379	0.881000	0.50899	7.903000	0.87398	0.960000	0.38005	0.533000	0.62120	.	-	-		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		A	NM_004543	-	Intron	152581369	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	152581369	A	C	152581369	5	2	188	1	0	0	0	0	0	0	1	0	10304	405	14	5	25881	5	NEB	2	152581369	Splice_Site	SNP	A	TCGA-MO-A47R-01A-11D-A24N-09	38323926	152581369	90618004	10	12946											
FARP2	9855	genome.wustl.edu	37	chr2	242371123	242371123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcaacactttcaactgGtccaaggtccgtaaactaag	6	10	2	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr2:242371123G>T	ENST00000264042.3	+	9	971	c.801G>T	c.(799-801)tgG>tgT	p.W267C	FARP2_ENST00000545004.1_Missense_Mutation_p.W267C|FARP2_ENST00000373287.4_Missense_Mutation_p.W267C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	267	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTTTCAACTGGTCCAAGGTCC	0.353																																																	0								ENSG00000006607						119	110	113					2																	242371123		2203	4300	6503	FARP2	SO:0001583	missense	0			-	HGNC	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.801G>T	2.37:g.242371123G>T	ENSP00000264042:p.Trp267Cys	Somatic	0	59	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	27	0	0	64	0.00	0	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.W267C	ENST00000264042.3	37	c.801	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353551	0.82243	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	D;D;D	0.98381	-4.9;-4.9;-4.9	4.83	4.83	0.62350	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.081629	0.53938	D	0.000042	D	0.99333	0.9766	H	0.96111	3.77	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	0.98640	1.0675	10	0.87932	D	0	.	18.2974	0.90151	0.0:0.0:1.0:0.0	.	267;267;267	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	267	ENSP00000264042:W267C;ENSP00000443876:W267C;ENSP00000362384:W267C	ENSP00000264042:W267C	W	+	3	0	FARP2	242019796	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.523000	0.98034	2.391000	0.81399	0.552000	0.68991	TGG	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.353	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	protein_coding	OTTHUMT00000323153.1	G		-		242371123	1	no_errors	ENST00000264042	ensembl	human	known	74_37	missense	SNP	1.000	T	T	242371123	G	T	242371123	3	4	188	1	0	0	0	0	1	0	0	0	5679	1270	44	3	831	3	FARP2	2	242371123	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	89789754	242371123	828250	11	12947											
ANO10	55129	genome.wustl.edu	37	chr3	43596888	43596888	+	Frame_Shift_Del	DEL	A	A	-													acacagcaaaggcagctgctAatgggtaaacacaggagaaa							TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr3:43596888delA	ENST00000292246.3	-	10	1720	c.1550delT	c.(1549-1551)ttafs	p.L517fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.L451fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.L327fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.L406fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.L517fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	517					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGCAGCTGCTAATGGGTAAAC	0.398																																																	0								ENSG00000160746						102	100	101					3																	43596888		2203	4300	6503	ANO10	SO:0001589	frameshift_variant	0				HGNC	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1550delT	3.37:g.43596888delA	ENSP00000292246:p.Leu517fs	Somatic	0	42	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	35	0	0	46	0.00	0	pfam_Anoctamin	p.L517fs	ENST00000292246.3	37	c.1550	CCDS2710.2	3																																																																																			-	pfam_Anoctamin		0.398	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	protein_coding	OTTHUMT00000256649.2	A	NM_018075			43596888	-1	no_errors	ENST00000292246	ensembl	human	known	74_37	frame_shift_del	DEL	0.952	-	-	43596888	A	-	43596888	7	5	188	1	0	1	0	1	0	0	0	0	696	372	13	0	448	0	ANO10	3	43596888	Frame_Shift_Del	DEL	A	TCGA-MO-A47R-01A-11D-A24N-09		43596888	154425542	12	12948											
PHLDB2	90102	genome.wustl.edu	37	chr3	111681011	111681011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatctgaattttataacCgcacagcatctgaatcaaat	5	8	3	3	rs367905377		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr3:111681011C>T	ENST00000431670.2	+	13	3340	c.2929C>T	c.(2929-2931)Cgc>Tgc	p.R977C	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R468C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R934C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R977C|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R961C|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R934C	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	977						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATTTTATAACCGCACAGCATC	0.403																																																	0								ENSG00000144824	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	122	120	121		2881,2929,2929,2800	6	1	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PHLDB2	NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	961/1238,977/1254,977/1254,934/1211	111681011	1,13005	2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2929C>T	3.37:g.111681011C>T	ENSP00000405405:p.Arg977Cys	Somatic	0	50	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	32	0	0	15	57.14	20	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R977C	ENST00000431670.2	37	c.2929	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011763	0.75046	0.0	1.16E-4	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0	P;D;D;D;D	0.79784	0.482;0.982;0.987;0.993;0.993	T	0.71310	-0.4631	10	0.87932	D	0	.	12.8909	0.58071	0.1622:0.8378:0.0:0.0	.	96;468;977;934;961	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	C	961;977;934;934;977;934;468	ENSP00000377500:R961C;ENSP00000405405:R977C;ENSP00000405292:R934C;ENSP00000418296:R934C;ENSP00000377502:R977C;ENSP00000418319:R934C;ENSP00000420303:R468C	ENSP00000377500:R961C	R	+	1	0	PHLDB2	113163701	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.052000	0.30429	2.840000	0.97914	0.655000	0.94253	CGC	-	NULL		0.403	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	C	NM_145753	-		111681011	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111681011	C	T	111681011	3	4	188	1	0	0	0	0	1	0	0	0	11854	652	23	1	3060	1	PHLDB2	3	111681011	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	68084123	111681011	86341419	13	12949											
PIK3CA	5290	genome.wustl.edu	37	chr3	178947119	178947119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggacttattgaggtggtgcGaaattctcacactattatgc	11	7	1	1	rs199943173		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr3:178947119G>A	ENST00000263967.3	+	18	2712	c.2555G>A	c.(2554-2556)cGa>cAa	p.R852Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	852	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAGGTGGTGCGAAATTCTCAC	0.423		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0								ENSG00000121879						151	142	145					3																	178947119		1936	4153	6089	PIK3CA	SO:0001583	missense	0			-	HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2555G>A	3.37:g.178947119G>A	ENSP00000263967:p.Arg852Gln	Somatic	0	75	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50	Q14CW1|Q99762	Missense_Mutation	SNP	24	0	0	20	31.03	9	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R852Q	ENST00000263967.3	37	c.2555	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569100	0.65765	.	.	ENSG00000121879	ENST00000263967	T	0.75589	-0.95	5.38	5.38	0.77491	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	N	0.12527	0.23	0.80722	D	1	B	0.21753	0.06	B	0.21708	0.036	T	0.55082	-0.8196	10	0.17369	T	0.5	-17.0035	19.1149	0.93334	0.0:0.0:1.0:0.0	.	852	P42336	PK3CA_HUMAN	Q	852	ENSP00000263967:R852Q	ENSP00000263967:R852Q	R	+	2	0	PIK3CA	180429813	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.367000	0.97148	2.523000	0.85059	0.446000	0.29264	CGA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.423	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	G		rs199943173		178947119	1	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	SNP	1.000	A	A	178947119	G	A	178947119	3	1	188	1	0	0	0	0	1	0	0	0	11915	1058	37	1	2621	1	PIK3CA	3	178947119	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	67266108	178947119	19075311	14	12950											
KIT	3815	genome.wustl.edu	37	chr4	55593601	55593601	+	Frame_Shift_Del	DEL	A	A	-													gaaacccatgtatgaagtacAgtggaaggttgttgaggaga					rs121913234		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr4:55593601delA	ENST00000288135.5	+	11	1764	c.1667delA	c.(1666-1668)cagfs	p.Q556fs		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	556			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.		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.Y553_K558>(8)|p.E554_K558del(8)|p.W557_K558del(8)|p.M552_W557del(8)|p.K550_K558del(7)|p.Q556_V560del(6)|p.Y553_Q556del(4)|p.Y553_K558del(4)|p.V555_K558del(3)|p.Y553_W557del(3)|p.Y553_T574>S(3)|p.P551_Q556del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.V555_V559del(3)|p.V555_Q556del(2)|p.W557_E561del(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.V555_E562del(2)|p.Q556_V559del(2)|p.M552_Q556del(2)|p.V555_G565del(1)|p.M552_W557>R(1)|p.P551_K558del(1)|p.M552_E561>K(1)|p.E554_I571del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.Q556R(1)|p.V555_N566>D(1)|p.M552_Q556>(1)|p.V555_V560>V(1)|p.Q556_W557del(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_E561>HH(1)|p.Q556_K558>R(1)|p.K550_Q556del(1)|p.Q556_W557>R(1)|p.E554_E562del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K550_W557del(1)|p.V555_I563del(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.K550_Q556>II(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Y553_V559del(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)	TATGAAGTACAGTGGAAGGTT	0.383		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																														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"	130	Deletion - In frame(101)|Complex - deletion inframe(26)|Deletion - Frameshift(2)|Substitution - Missense(1)	soft_tissue(127)|skin(2)|testis(1)						ENSG00000157404						80	82	82					4																	55593601		2203	4300	6503	KIT	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)		HGNC	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.1667delA	4.37:g.55593601delA	ENSP00000288135:p.Gln556fs	Somatic	0	30	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Del	DEL	33	0	0	28	57.58	38	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q556fs	ENST00000288135.5	37	c.1667	CCDS3496.1	4																																																																																			-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom		0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A				55593601	1	no_errors	ENST00000288135	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	55593601	A	-	55593601	7	5	188	1	0	1	0	1	0	0	0	0	8331	188	7	0	1709	0	KIT	4	55593601	Frame_Shift_Del	DEL	A	TCGA-MO-A47R-01A-11D-A24N-09		55593601	135560675	15	12951	194	2									
KIT	3815	genome.wustl.edu	37	chr4	55593603	55593616	+	Frame_Shift_Del	DEL	TGGAAGGTTGTTGA	TGGAAGGTTGTTGA	-													aacccatgtatgaagtacagTggaaggttgttgaggagata					rs121913517|rs200375589|rs121913511|rs121913510|rs121913685|rs121913234|rs121913235|rs121913520|rs121913521		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	TGGAAGGTTGTTGA	TGGAAGGTTGTTGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr4:55593603_55593616delTGGAAGGTTGTTGA	ENST00000288135.5	+	11	1766_1779	c.1669_1682delTGGAAGGTTGTTGA	c.(1669-1683)tggaaggttgttgagfs	p.WKVVE557fs		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	557			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854}.		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.W557_K558del(120)|p.V559D(58)|p.V560D(52)|p.W557R(28)|p.W557G(23)|p.V559del(18)|p.W557_V559>F(18)|p.W557_E561del(17)|p.V560del(16)|p.V559A(16)|p.V559G(12)|p.K558_E562del(10)|p.V560G(9)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.V559_E561del(8)|p.M552_W557del(8)|p.K558>NP(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.V559_V560del(6)|p.V560E(6)|p.Q556_V560del(6)|p.K558_V560del(5)|p.E561K(5)|p.V560_L576del(4)|p.W557del(4)|p.Y553_K558del(4)|p.V559I(4)|p.W557_V560>C(3)|p.Y553_W557del(3)|p.V555_K558del(3)|p.W557_K558>CP(3)|p.V555_P573del(3)|p.V555_I571del(3)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.K558K(3)|p.W557S(3)|p.V555_V559del(3)|p.K558R(3)|p.K558N(3)|p.K558_V559del(3)|p.Q556_V560>H(3)|p.V555_V560del(3)|p.V555_E562del(2)|p.W557_P573>S(2)|p.V560_I571del(2)|p.W557_K558>E(2)|p.W557_V560del(2)|p.Q556_L576del(2)|p.K558_V559>SS(2)|p.K558E(2)|p.W557_Q575del(2)|p.Q556_V559del(2)|p.K558_V560>I(2)|p.K558_V560>N(2)|p.V560V(2)|p.K558_V559>N(2)|p.K550fs*6(2)|p.K550_V559del(2)|p.E561del(2)|p.K558_N564del(2)|p.Q556_K558del(2)|p.P551_K558del(1)|p.W557_V560>F(1)|p.M552_E561>K(1)|p.E561_P577del(1)|p.Q556_K558>HPCR(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.W557_K558>CT(1)|p.Q556_V559>H(1)|p.V559_P573>A(1)|p.Q556_W557>R(1)|p.V559_L576del(1)|p.K550_W557del(1)|p.Q556_D572>H(1)|p.E554_E562del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.Q556_W557del(1)|p.W557_K558>S(1)|p.E554_I571del(1)|p.V555_V560>V(1)|p.K558_G565>R(1)|p.K558*(1)|p.V559K(1)|p.W557_E562del(1)|p.W557*(1)|p.Q556_P573del(1)|p.M552_K558del(1)|p.Q556_D572del(1)|p.Q556_E561>HH(1)|p.K558_L576>NV(1)|p.W557_K558>SS(1)|p.W557C(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.Y553_V559del(1)|p.M552_W557>R(1)|p.V560A(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.Q556_V560>TTF(1)|p.Q556_V560>HNLQLY(1)|p.W557_V559>I(1)|p.Q556_K558>R(1)|p.K558_V560>M(1)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.Q556_V560>F(1)|p.V559_E562del(1)|p.V559_I571del(1)|p.Q556_K558>H(1)|p.Q556_E561del(1)|p.W557_I571del(1)|p.E554_N564del(1)|p.K558_D572del(1)|p.K558_Y570>N(1)|p.Y553_V559>E(1)|p.E561G(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)	TGAAGTACAGTGGAAGGTTGTTGAGGAGATAAAT	0.383		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																														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"	655	Deletion - In frame(320)|Substitution - Missense(228)|Complex - deletion inframe(79)|Complex - insertion inframe(11)|Complex - compound substitution(8)|Substitution - coding silent(5)|Substitution - Nonsense(2)|Deletion - Frameshift(2)	soft_tissue(602)|skin(23)|haematopoietic_and_lymphoid_tissue(21)|genital_tract(3)|testis(3)|salivary_gland(1)|thymus(1)|lung(1)	GRCh37	CD982724|CM005329|CM013551|CM077194|CM950713	KIT	D|M	rs121913235|rs121913517|rs67104871	ENSG00000157404																																			KIT	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)		HGNC	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.1669_1682delTGGAAGGTTGTTGA	4.37:g.55593603_55593616delTGGAAGGTTGTTGA	ENSP00000288135:p.Trp557fs	Somatic					0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Del	DEL	34	0	0	27	58.46	38	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.W557fs	ENST00000288135.5	37	c.1669_1682	CCDS3496.1	4																																																																																			-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom		0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	TGGAAGGTTGTTGA				55593616	1	no_errors	ENST00000288135	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.959:0.999:0.998:0.001:1.000:1.000	-	-	55593616	TGGAAGGTTGTTGA	-	55593603	7	5	188	1	0	1	0	1	0	0	0	0	8331	1696	59	0	1711	0	KIT	4	55593603	Frame_Shift_Del	DEL	TGGAAGGTTGTTGA	TCGA-MO-A47R-01A-11D-A24N-09	2	55593603	135560673	16	12952	194	2									
WDFY3	23001	genome.wustl.edu	37	chr4	85704202	85704202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcaacttcacaggagtgGcattctcatgtgaggaaatg	11	7	3	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr4:85704202G>A	ENST00000295888.4	-	25	4495	c.4088C>T	c.(4087-4089)gCc>gTc	p.A1363V	WDFY3_ENST00000322366.6_Missense_Mutation_p.A1363V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1363					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACAGGAGTGGCATTCTCATG	0.388																																																	0								ENSG00000163625						126	121	123					4																	85704202		2203	4300	6503	WDFY3	SO:0001583	missense	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4088C>T	4.37:g.85704202G>A	ENSP00000295888:p.Ala1363Val	Somatic	0	53	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	34	0	0	40	0.00	0	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1363V	ENST00000295888.4	37	c.4088	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908529	0.92107	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66460	-0.21;-0.21	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.72118	2.19	0.80722	D	1	B	0.31351	0.32	B	0.34385	0.181	T	0.67530	-0.5647	10	0.37606	T	0.19	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	1363	Q8IZQ1	WDFY3_HUMAN	V	1363	ENSP00000318466:A1363V;ENSP00000295888:A1363V	ENSP00000295888:A1363V	A	-	2	0	WDFY3	85923226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.051000	0.89446	2.724000	0.93272	0.650000	0.86243	GCC	-	NULL		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991	-		85704202	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85704202	G	A	85704202	3	1	188	1	0	0	0	0	1	0	0	0	17277	1203	42	2	6668	2	WDFY3	4	85704202	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	30110599	85704202	105450074	17	12953											
DCHS2	54798	genome.wustl.edu	37	chr4	155219572	155219572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatactcagtttgcccaTtcaggccttcatccttgtcc	6	13	3	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr4:155219572T>C	ENST00000357232.4	-	18	4528	c.4529A>G	c.(4528-4530)aAt>aGt	p.N1510S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1510	Cadherin 13. {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)		AGTTTGCCCATTCAGGCCTTC	0.468																																																	0								ENSG00000197410						136	132	133					4																	155219572		2203	4300	6503	DCHS2	SO:0001583	missense	0			-	HGNC	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.4529A>G	4.37:g.155219572T>C	ENSP00000349768:p.Asn1510Ser	Somatic	0	75	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	62	33.33	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	25	0	0	36	28.00	14	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N1510S	ENST00000357232.4	37	c.4529	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930573	0.73327	.	.	ENSG00000197410	ENST00000357232	T	0.60040	0.22	5.76	3.34	0.38264	Cadherin (4);Cadherin-like (1);	0.134513	0.49916	N	0.000139	T	0.69097	0.3073	M	0.86343	2.81	0.80722	D	1	P	0.51933	0.949	P	0.52189	0.692	T	0.70230	-0.4929	10	0.48119	T	0.1	.	10.0819	0.42395	0.0:0.1356:0.0:0.8644	.	1510	Q6V1P9	PCD23_HUMAN	S	1510	ENSP00000349768:N1510S	ENSP00000349768:N1510S	N	-	2	0	DCHS2	155439022	1.000000	0.71417	0.979000	0.43373	0.976000	0.68499	4.634000	0.61325	0.541000	0.28827	0.528000	0.53228	AAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	T	NM_001142552	-		155219572	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	SNP	1.000	C	C	155219572	T	C	155219572	3	2	188	1	0	0	0	0	1	0	0	0	4290	1493	52	5	4253	5	DCHS2	4	155219572	Missense_Mutation	SNP	T	TCGA-MO-A47R-01A-11D-A24N-09	69515370	155219572	35934704	18	12954											
PDE4D	5144	genome.wustl.edu	37	chr5	59284463	59284463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaatattgcgacatgAaagtctccggacaagatagg	11	7	1	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr5:59284463A>G	ENST00000502484.2	-	3	347	c.124T>C	c.(124-126)Tca>Cca	p.S42P	PDE4D_ENST00000546160.1_Missense_Mutation_p.S42P	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTGCGACATGAAAGTCTCCGG	0.473																																																	0								ENSG00000113448						168	153	158					5																	59284463		1568	3582	5150	PDE4D	SO:0001583	missense	0			-	HGNC		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.124T>C	5.37:g.59284463A>G	ENSP00000423094:p.Ser42Pro	Somatic	0	87	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	101	25.19	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	40	0	0	62	20.51	16	pfam_PDEase_catalytic_dom,prints_PDEase	p.S42P	ENST00000502484.2	37	c.124	CCDS54859.1	5	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896670	0.72639	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.67523	-0.27;-0.27	5.71	5.71	0.89125	.	.	.	.	.	T	0.81240	0.4781	.	.	.	0.39844	D	0.973153	D;D	0.89917	1.0;0.981	D;D	0.87578	0.998;0.959	T	0.81953	-0.0697	8	0.39692	T	0.17	.	15.9722	0.80027	1.0:0.0:0.0:0.0	.	42;42	D6RIG1;Q08499-11	.;.	P	42	ENSP00000423094:S42P;ENSP00000442734:S42P	ENSP00000423094:S42P	S	-	1	0	PDE4D	59320220	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.912000	0.87465	2.176000	0.68965	0.477000	0.44152	TCA	-	NULL		0.473	PDE4D-003	KNOWN	basic|CCDS	protein_coding	PDE4D	protein_coding	OTTHUMT00000368094.3	A		-		59284463	-1	no_errors	ENST00000502484	ensembl	human	known	74_37	missense	SNP	1.000	G	G	59284463	A	G	59284463	3	3	188	1	0	0	0	0	1	0	0	0	11644	246	9	5	2692	5	PDE4D	5	59284463	Missense_Mutation	SNP	A	TCGA-MO-A47R-01A-11D-A24N-09		59284463	121630797	19	12955											
F2RL1	2150	genome.wustl.edu	37	chr5	76128687	76128687	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaattgtctacacaattgtGtttgtggtgggtttgccaag	11	7	1	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr5:76128687G>T	ENST00000296677.4	+	2	461	c.255G>T	c.(253-255)gtG>gtT	p.V85V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	85					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ACACAATTGTGTTTGTGGTGG	0.458																																																	0								ENSG00000164251						206	187	194					5																	76128687		2203	4300	6503	F2RL1	SO:0001819	synonymous_variant	0			-	HGNC	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.255G>T	5.37:g.76128687G>T		Somatic	0	55	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q13317|Q13346|Q53XJ8	Silent	SNP	29	0	0	74	0.00	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V85	ENST00000296677.4	37	c.255	CCDS4033.1	5																																																																																			-	prints_GPCR_Rhodpsn		0.458	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL1	protein_coding	OTTHUMT00000219957.2	G		-		76128687	1	no_errors	ENST00000296677	ensembl	human	known	74_37	silent	SNP	0.013	T	T	76128687	G	T	76128687	2	4	188	1	0	0	0	0	0	0	0	1	5346	1364	48	3		3	F2RL1	5	76128687	Silent	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	16844224	76128687	104786573	20	12956											
MLL5	55904	genome.wustl.edu	37	chr7	104747888	104747889	+	Frame_Shift_Ins	INS	-	-	A													gaactgggtctgcaagaaatINSaaagactattggttatacga							TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr7:104747888_104747889insA	ENST00000311117.3	+	22	3529_3530	c.2984_2985insA	c.(2983-2988)ataaagfs	p.IK995fs	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.IK995fs|KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.IK995fs|KMT2E_ENST00000334914.7_Frame_Shift_Ins_p.IK50fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	995					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTGCAAGAAATAAAGACTATTG	0.401																																																	0								ENSG00000005483																																			KMT2E	SO:0001589	frameshift_variant	0				HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2987dupA	7.37:g.104747891_104747891dupA	ENSP00000312379:p.Ile995fs	Somatic	0	34	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	32	0	0	55	21.43	15	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.T997fs	ENST00000311117.3	37	c.2984_2985	CCDS34723.1	7																																																																																			-	NULL		0.401	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	-				104747889	1	no_errors	ENST00000257745	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	104747889	-	A	104747888	7	5	188	1	0	1	1	0	0	0	0	0	9626	1406	49	0	3062	0	MLL5	7	104747888	Frame_Shift_Ins	INS	-	TCGA-MO-A47R-01A-11D-A24N-09		104747888	54390775	21	12957											
NUP205	23165	genome.wustl.edu	37	chr7	135302372	135302372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatagggttcttgtagCtgaagtaaatgcccttcagg	10	8	4	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr7:135302372C>T	ENST00000285968.6	+	27	3739	c.3713C>T	c.(3712-3714)gCt>gTt	p.A1238V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1238					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)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|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(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTCTTGTAGCTGAAGTAAAT	0.383																																																	0								ENSG00000155561						82	79	80					7																	135302372		2203	4300	6503	NUP205	SO:0001583	missense	0			-	HGNC	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3713C>T	7.37:g.135302372C>T	ENSP00000285968:p.Ala1238Val	Somatic	0	46	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	A6H8X3|Q86YC1	Missense_Mutation	SNP	28	0	0	59	30.59	26	pfam_Nup186/Nup192/Nup205	p.A1238V	ENST00000285968.6	37	c.3713	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.619156	0.96649	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	P	0.54759	0.76	T	0.03306	-1.1050	10	0.30854	T	0.27	-16.2792	20.3409	0.98764	0.0:1.0:0.0:0.0	.	1238	Q92621	NU205_HUMAN	V	1238	ENSP00000285968:A1238V	ENSP00000285968:A1238V	A	+	2	0	NUP205	134952912	1.000000	0.71417	0.814000	0.32528	0.987000	0.75469	7.487000	0.81328	2.814000	0.96858	0.655000	0.94253	GCT	-	pfam_Nup186/Nup192/Nup205		0.383	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	protein_coding	OTTHUMT00000340358.1	C		-		135302372	1	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135302372	C	T	135302372	3	4	188	1	0	0	0	0	1	0	0	0	10761	797	28	2	3819	2	NUP205	7	135302372	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	30554484	135302372	23836291	22	12958											
INTS9	55756	genome.wustl.edu	37	chr8	28651360	28651360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaactccagtgaactgTtggccacaggggagatgaag	15	7	0	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr8:28651360T>C	ENST00000521022.1	-	10	1082	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	INTS9_ENST00000416984.2_Missense_Mutation_p.N313S|INTS9_ENST00000521777.1_Missense_Mutation_p.N310S|INTS9_ENST00000397363.4_Missense_Mutation_p.N228S	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	334					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAGTGAACTGTTGGCCACAGG	0.458																																																	0								ENSG00000104299						77	76	77					8																	28651360		2203	4300	6503	INTS9	SO:0001583	missense	0			-	HGNC	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1001A>G	8.37:g.28651360T>C	ENSP00000429065:p.Asn334Ser	Somatic	0	20	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	25	0	0	46	28.12	18	pfam_Beta_Casp	p.N334S	ENST00000521022.1	37	c.1001	CCDS34873.1	8	.	.	.	.	.	.	.	.	.	.	T	15.81	2.941974	0.53079	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.41758	1.0;1.0;1.0;1.0;0.99	5.87	5.87	0.94306	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.29908	0.895	0.58432	D	0.999998	P;B;B	0.39094	0.659;0.059;0.073	B;B;B	0.37091	0.241;0.03;0.105	T	0.09250	-1.0683	10	0.34782	T	0.22	-38.0009	14.8516	0.70300	0.0:0.0:0.0:1.0	.	313;334;334	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	S	334;313;178;310;228;289	ENSP00000429065:N334S;ENSP00000398208:N313S;ENSP00000430943:N310S;ENSP00000380520:N228S;ENSP00000427789:N289S	ENSP00000380520:N228S	N	-	2	0	INTS9	28707279	1.000000	0.71417	0.999000	0.59377	0.636000	0.38137	6.289000	0.72696	2.248000	0.74166	0.533000	0.62120	AAC	-	pfam_Beta_Casp		0.458	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	protein_coding	OTTHUMT00000376846.1	T	NM_018250	-		28651360	-1	no_errors	ENST00000521022	ensembl	human	known	74_37	missense	SNP	1.000	C	C	28651360	T	C	28651360	3	2	188	1	0	0	0	0	1	0	0	0	7787	1725	60	5	1007	5	INTS9	8	28651360	Missense_Mutation	SNP	T	TCGA-MO-A47R-01A-11D-A24N-09		28651360	117712662	23	12959											
C8orf76	84933	genome.wustl.edu	37	chr8	124253560	124253560	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accgagtcctcgaactcgccGccgaacaaccagcacccgga	9	18	0	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr8:124253560G>C	ENST00000276704.4	-	1	78	c.27C>G	c.(25-27)ggC>ggG	p.G9G	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	9										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAACTCGCCGCCGAACAACC	0.716																																																	0								ENSG00000189376						11	12	11					8																	124253560		2166	4259	6425	C8orf76	SO:0001819	synonymous_variant	0			-	HGNC	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.27C>G	8.37:g.124253560G>C		Somatic	0	16	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	Q53HC1	Silent	SNP	18	0	0	36	29.41	15	NULL	p.G9	ENST00000276704.4	37	c.27	CCDS6341.1	8																																																																																			-	NULL		0.716	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf76	protein_coding	OTTHUMT00000381748.1	G	NM_032847	-		124253560	-1	no_errors	ENST00000276704	ensembl	human	known	74_37	silent	SNP	0.603	C	C	124253560	G	C	124253560	2	2	188	1	0	0	0	0	0	0	0	1	2439	1074	38	4		4	C8orf76	8	124253560	Silent	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	95602200	124253560	22110462	24	12960											
FAM91A1	157769	genome.wustl.edu	37	chr8	124796721	124796721	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttttagttccacctcttGaaggttttgtaatgaatcga	8	6	1	2			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr8:124796721G>T	ENST00000334705.7	+	9	961	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.E239*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	239										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCCACCTCTTGAAGGTTTTGT	0.299																																																	0								ENSG00000176853						83	75	78					8																	124796721		1800	4065	5865	FAM91A1	SO:0001587	stop_gained	0			-	HGNC	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.715G>T	8.37:g.124796721G>T	ENSP00000335082:p.Glu239*	Somatic	0	51	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	B6YY23|Q658T5|Q8TE89	Nonsense_Mutation	SNP	30	0	0	67	22.99	20	NULL	p.E239*	ENST00000334705.7	37	c.715	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	G	39	7.508963	0.98329	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.2211	0.98325	0.0:0.0:1.0:0.0	.	.	.	.	X	239	.	ENSP00000335082:E239X	E	+	1	0	FAM91A1	124865902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.701000	0.98710	2.853000	0.98044	0.644000	0.83932	GAA	-	NULL		0.299	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	protein_coding	OTTHUMT00000256607.1	G	NM_144963	-		124796721	1	no_errors	ENST00000334705	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	124796721	G	T	124796721	4	4	188	1	0	0	0	0	0	1	0	0	5653	1291	45	3	749	3	FAM91A1	8	124796721	Nonsense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	543161	124796721	21567301	25	12961											
OR52L1	338751	genome.wustl.edu	37	chr11	6007874	6007874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcaagggctttgggtGcagtggaggaggccagaacc	17	9	0	1	rs72484715		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr11:6007874G>T	ENST00000332249.4	-	1	341	c.287C>A	c.(286-288)gCa>gAa	p.A96E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTTGGGTGCAGTGGAGGA	0.527																																					Melanoma(121;653 1666 10547 22796 51255)												0								ENSG00000183313						64	68	67					11																	6007874		2113	4239	6352	OR52L1	SO:0001583	missense	0			-	HGNC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.287C>A	11.37:g.6007874G>T	ENSP00000330338:p.Ala96Glu	Somatic	0	86	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	73	30.48	B2RPA6|Q6IFK9	Missense_Mutation	SNP	30	0	0	31	29.55	13	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A96E	ENST00000332249.4	37	c.287	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882329	0.51908	.	.	ENSG00000183313	ENST00000332249	T	0.03094	4.05	3.64	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.191457	0.25503	N	0.030225	T	0.04770	0.0129	M	0.64630	1.985	0.25189	N	0.990148	P	0.46706	0.883	B	0.41135	0.348	T	0.32402	-0.9908	10	0.87932	D	0	.	4.6677	0.12673	0.3413:0.0:0.6587:0.0	.	96	Q8NGH7	O52L1_HUMAN	E	96	ENSP00000330338:A96E	ENSP00000330338:A96E	A	-	2	0	OR52L1	5964450	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	-0.062000	0.11674	1.747000	0.51819	0.313000	0.20887	GCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	protein_coding	OTTHUMT00000383754.1	G	NM_001005173	-		6007874	-1	no_errors	ENST00000332249	ensembl	human	known	74_37	missense	SNP	0.821	T	T	6007874	G	T	6007874	3	4	188	1	0	0	0	0	1	0	0	0	11127	1319	46	3	706	3	OR52L1	11	6007874	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		6007874	128998642	26	12962											
LRFN4	78999	genome.wustl.edu	37	chr11	66625762	66625762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaccataaccttattgacGcactgcccccaggcgccttc	8	16	0	1	rs560005995		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr11:66625762G>T	ENST00000309602.4	+	1	790	c.547G>T	c.(547-549)Gca>Tca	p.A183S	PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.A183S	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	183						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCTTATTGACGCACTGCCCCC	0.672																																																	0								ENSG00000173621						43	40	41					11																	66625762		2200	4295	6495	LRFN4	SO:0001583	missense	0			-	HGNC	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.547G>T	11.37:g.66625762G>T	ENSP00000312535:p.Ala183Ser	Somatic	0	52	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	24	0	0	34	0.00	0	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A183S	ENST00000309602.4	37	c.547	CCDS8153.1	11	.	.	.	.	.	.	.	.	.	.	G	1.395	-0.579666	0.03854	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.47869	0.83;0.83	4.18	3.26	0.37387	.	0.285900	0.25078	N	0.033308	T	0.25344	0.0616	N	0.11651	0.15	0.26396	N	0.976495	B;B	0.21753	0.031;0.06	B;B	0.28991	0.055;0.097	T	0.15983	-1.0418	10	0.21014	T	0.42	.	5.8372	0.18613	0.1077:0.1974:0.695:0.0	.	183;183	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	S	183	ENSP00000377524:A183S;ENSP00000312535:A183S	ENSP00000312535:A183S	A	+	1	0	LRFN4	66382338	0.000000	0.05858	0.089000	0.20774	0.256000	0.26092	0.226000	0.17776	1.101000	0.41535	0.313000	0.20887	GCA	-	smart_Leu-rich_rpt_typical-subtyp		0.672	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN4	protein_coding	OTTHUMT00000393127.1	G	NM_024036	-		66625762	1	no_errors	ENST00000309602	ensembl	human	known	74_37	missense	SNP	0.640	T	T	66625762	G	T	66625762	3	4	188	1	0	0	0	0	1	0	0	0	8942	1087	38	3	549	3	LRFN4	11	66625762	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	60617888	66625762	68380754	27	12963											
CCND1	595	genome.wustl.edu	37	chr11	69466030	69466030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgcacacccaccgacGtgcgggacgtggacatctga	13	13	1	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr11:69466030G>A	ENST00000227507.2	+	5	1095	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	290					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ACCCACCGACGTGCGGGACGT	0.716			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)			Dom	yes		11	11q13	595	cyclin D1		"L, E"	0								ENSG00000110092						19	16	17					11																	69466030		2197	4290	6487	CCND1	SO:0001583	missense	0			-	HGNC	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.868G>A	11.37:g.69466030G>A	ENSP00000227507:p.Val290Met	Somatic	0	16	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q6LEF0	Missense_Mutation	SNP	23	0	0	24	25.00	8	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.V290M	ENST00000227507.2	37	c.868	CCDS8191.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.054483	0.93793	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.12465	2.68	5.59	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	T	0.49532	-0.8930	10	0.87932	D	0	.	14.0665	0.64834	0.0722:0.0:0.9278:0.0	.	290	P24385	CCND1_HUMAN	M	290;156	ENSP00000227507:V290M	ENSP00000227507:V290M	V	+	1	0	CCND1	69175211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.974000	0.93433	1.356000	0.45884	0.655000	0.94253	GTG	-	NULL		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND1	protein_coding	OTTHUMT00000396775.2	G	NM_053056	-		69466030	1	no_errors	ENST00000227507	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69466030	G	A	69466030	3	1	188	1	0	0	0	0	1	0	0	0	2918	1145	40	1	886	1	CCND1	11	69466030	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	2840268	69466030	65540486	28	12964											
CASP4	837	genome.wustl.edu	37	chr11	104819368	104819368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggccacttccaaggatgCtggagagtctctgacccaca	11	12	1	3			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr11:104819368C>T	ENST00000444739.2	-	6	1727	c.817G>A	c.(817-819)Gca>Aca	p.A273T	CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Missense_Mutation_p.A217T	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	273					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCCAAGGATGCTGGAGAGTCT	0.507																																																	0								ENSG00000196954						156	121	133					11																	104819368		2202	4299	6501	CASP4	SO:0001583	missense	0			-	HGNC	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.817G>A	11.37:g.104819368C>T	ENSP00000388566:p.Ala273Thr	Somatic	0	51	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	A2NHL8|A2NHM0	Missense_Mutation	SNP	30	0	0	19	32.14	9	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.A273T	ENST00000444739.2	37	c.817	CCDS8327.1	11	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216512	0.39201	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.20598	2.06;2.06	4.56	-3.09	0.05331	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	2.968610	0.01232	N	0.008378	T	0.30135	0.0755	M	0.67953	2.075	0.09310	N	1	P	0.45768	0.866	P	0.53809	0.735	T	0.32561	-0.9902	10	0.23891	T	0.37	.	1.3335	0.02140	0.1367:0.3132:0.154:0.396	.	273	P49662	CASP4_HUMAN	T	273;217;226	ENSP00000388566:A273T;ENSP00000376857:A217T	ENSP00000347741:A226T	A	-	1	0	CASP4	104324578	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.128000	0.10531	-0.470000	0.06901	0.484000	0.47621	GCA	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta		0.507	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP4	protein_coding	OTTHUMT00000387751.1	C	NM_001225	-		104819368	-1	no_errors	ENST00000444739	ensembl	human	known	74_37	missense	SNP	0.000	T	T	104819368	C	T	104819368	3	4	188	1	0	0	0	0	1	0	0	0	2675	797	28	2	328	2	CASP4	11	104819368	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	35353338	104819368	30187148	29	12965											
NCAPD2	9918	genome.wustl.edu	37	chr12	6626972	6626972	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacccagaggaggagtGggaagccatgctgccagagt	17	9	0	2			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr12:6626972G>A	ENST00000315579.5	+	13	2235	c.1436G>A	c.(1435-1437)tGg>tAg	p.W479*	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.W434*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	479	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GAGGAGGAGTGGGAAGCCATG	0.512																																																	0								ENSG00000010292						64	59	61					12																	6626972		2203	4300	6503	NCAPD2	SO:0001587	stop_gained	0			-	HGNC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1436G>A	12.37:g.6626972G>A	ENSP00000325017:p.Trp479*	Somatic	0	29	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	30	0	0	55	0.00	0	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.W479*	ENST00000315579.5	37	c.1436	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.325458	0.98762	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-11.2791	19.69	0.95996	0.0:0.0:1.0:0.0	.	.	.	.	X	479;351;434;351	.	ENSP00000325017:W479X	W	+	2	0	NCAPD2	6497233	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.597000	0.82733	2.648000	0.89879	0.650000	0.86243	TGG	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.512	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	protein_coding	OTTHUMT00000399964.1	G	NM_014865	-		6626972	1	no_errors	ENST00000315579	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	6626972	G	A	6626972	4	1	188	1	0	0	0	0	0	1	0	0	10207	1357	47	2	1482	2	NCAPD2	12	6626972	Nonsense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		6626972	127224923	30	12966											
HEBP1	50865	genome.wustl.edu	37	chr12	13128328	13128328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagtagatgtccccccGgtaggtggctgtgccctcca	13	13	0	2			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr12:13128328G>A	ENST00000014930.4	-	4	642	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000536029.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	162					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ATGTCCCCCCGGTAGGTGGCT	0.582																																																	0								ENSG00000013583						113	91	98					12																	13128328		2203	4300	6503	HEBP1	SO:0001583	missense	0			-	HGNC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"Endogenous ligands"	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.484C>T	12.37:g.13128328G>A	ENSP00000014930:p.Arg162Trp	Somatic	0	42	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	26	0	0	49	20.97	13	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom	p.R162W	ENST00000014930.4	37	c.484	CCDS31749.1	12	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807848	0.50421	.	.	ENSG00000013583	ENST00000014930	T	0.23147	1.92	4.76	3.87	0.44632	Regulatory factor, effector, bacterial (1);	0.755390	0.13390	N	0.391492	T	0.35393	0.0930	L	0.50333	1.59	0.80722	D	1	D	0.61697	0.99	P	0.51101	0.659	T	0.17899	-1.0354	10	0.66056	D	0.02	-21.1915	13.7507	0.62906	0.0:0.0:0.8448:0.1552	.	162	Q9NRV9	HEBP1_HUMAN	W	162	ENSP00000014930:R162W	ENSP00000014930:R162W	R	-	1	2	HEBP1	13019595	1.000000	0.71417	0.123000	0.21794	0.029000	0.11900	3.725000	0.54970	1.355000	0.45865	-0.152000	0.13540	CGG	-	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom		0.582	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEBP1	protein_coding	OTTHUMT00000401001.1	G		-		13128328	-1	no_errors	ENST00000014930	ensembl	human	known	74_37	missense	SNP	0.935	A	A	13128328	G	A	13128328	3	1	188	1	0	0	0	0	1	0	0	0	7038	1115	39	1	89	1	HEBP1	12	13128328	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	6501356	13128328	120723567	31	12967											
TUBA3C	7278	genome.wustl.edu	37	chr13	19753654	19753654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacagttcccagcaggcaTtgccgatctggactcctgcc	10	14	1	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr13:19753654T>C	ENST00000400113.3	-	2	157	c.53A>G	c.(52-54)aAt>aGt	p.N18S	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	18					'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)		CCAGCAGGCATTGCCGATCTG	0.507																																																	0								ENSG00000198033						174	145	155					13																	19753654		2203	4300	6503	TUBA3C	SO:0001583	missense	0			-	HGNC	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.53A>G	13.37:g.19753654T>C	ENSP00000382982:p.Asn18Ser	Somatic	0	93	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	34	47.69	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	41	0	0	10	56.52	13	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.N18S	ENST00000400113.3	37	c.53	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	8.853	0.945152	0.18356	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70869	-0.52	1.37	1.37	0.22104	.	0.000000	0.49916	U	0.000126	T	0.71533	0.3351	.	.	.	0.35830	D	0.825224	.	.	.	.	.	.	T	0.76160	-0.3061	7	0.87932	D	0	.	6.8515	0.24018	0.0:0.0:0.0:1.0	.	.	.	.	S	18	ENSP00000382982:N18S	ENSP00000354037:N18S	N	-	2	0	TUBA3C	18651654	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	3.906000	0.56340	0.885000	0.36088	0.163000	0.16589	AAT	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin		0.507	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	T	NM_006001	-		19753654	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19753654	T	C	19753654	3	2	188	1	0	0	0	0	1	0	0	0	16753	1493	52	5	1315	5	TUBA3C	13	19753654	Missense_Mutation	SNP	T	TCGA-MO-A47R-01A-11D-A24N-09		19753654	95416224	32	12968											
BRCA2	675	genome.wustl.edu	37	chr13	32903601	32903601	+	Frame_Shift_Del	DEL	A	A	-													cagaaatgaagaagcatctgAaactgtatttcctcatgata							TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr13:32903601delA	ENST00000380152.3	+	8	886	c.653delA	c.(652-654)gaafs	p.E218fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.E218fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	218					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGCATCTGAAACTGTATTT	0.274			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0								ENSG00000139618						57	57	57					13																	32903601		2199	4284	6483	BRCA2	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)		HGNC	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.653delA	13.37:g.32903601delA	ENSP00000369497:p.Glu218fs	Somatic	0	45	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	28	0	0	14	56.25	18	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.T219fs	ENST00000380152.3	37	c.653	CCDS9344.1	13																																																																																			-	pirsf_BRCA2		0.274	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	A	NM_000059			32903601	1	no_errors	ENST00000380152	ensembl	human	known	74_37	frame_shift_del	DEL	0.012	-	-	32903601	A	-	32903601	7	5	188	1	0	1	0	1	0	0	0	0	1501	246	9	0	679	0	BRCA2	13	32903601	Frame_Shift_Del	DEL	A	TCGA-MO-A47R-01A-11D-A24N-09	13149947	32903601	82266277	33	12969											
DCT	1638	genome.wustl.edu	37	chr13	95118850	95118850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacaacaaatggtaccggtGccaggtaacaaatgcaggtc	10	10	0	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr13:95118850G>T	ENST00000377028.5	-	3	1071	c.658C>A	c.(658-660)Cac>Aac	p.H220N	DCT_ENST00000446125.1_Missense_Mutation_p.H220N|AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	220					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)			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)		TGGTACCGGTGCCAGGTAACA	0.368																																																	0								ENSG00000080166						65	67	66					13																	95118850		2203	4300	6503	DCT	SO:0001583	missense	0			-	HGNC	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.658C>A	13.37:g.95118850G>T	ENSP00000366227:p.His220Asn	Somatic	0	41	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q09GT4	Missense_Mutation	SNP	32	0	0	45	0.00	0	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.H220N	ENST00000377028.5	37	c.658	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	31	5.072468	0.93950	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99974	-10.2;-10.2	5.7	5.7	0.88788	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	M	0.91920	3.255	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.91635	0.999;0.964	D	0.96946	0.9691	10	0.62326	D	0.03	-24.0878	19.8418	0.96692	0.0:0.0:1.0:0.0	.	220;220	Q09GT4;P40126	.;TYRP2_HUMAN	N	220	ENSP00000366227:H220N;ENSP00000392762:H220N	ENSP00000366227:H220N	H	-	1	0	DCT	93916851	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.847000	0.99503	2.685000	0.91497	0.561000	0.74099	CAC	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase		0.368	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	protein_coding	OTTHUMT00000045461.3	G		-		95118850	-1	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95118850	G	T	95118850	3	4	188	1	0	0	0	0	1	0	0	0	4306	1319	46	3	1032	3	DCT	13	95118850	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	62215249	95118850	20051028	34	12970											
SERINC4	619189	genome.wustl.edu	37	chr15	44087708	44087708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggaggggtttcttgGtcagctggcctcgcagcccc	16	12	2	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr15:44087708G>T	ENST00000319327.6	-	11	1455	c.1221C>A	c.(1219-1221)gaC>gaA	p.D407E	SERINC4_ENST00000249714.3_Missense_Mutation_p.D163E|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000299969.6_Missense_Mutation_p.T333N|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	407					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGGTTTCTTGGTCAGCTGGCC	0.562																																																	0								ENSG00000184716						115	109	111					15																	44087708		2198	4298	6496	SERINC4	SO:0001583	missense	0			-	HGNC	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1221C>A	15.37:g.44087708G>T	ENSP00000319796:p.Asp407Glu	Somatic	0	47	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2RN41|Q3YL75	Missense_Mutation	SNP	35	0	0	42	2.33	1	pfam_TMS_TDE	p.D163E	ENST00000319327.6	37	c.489	CCDS58360.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.920|9.920	1.211838|1.211838	0.22289|0.22289	.|.	.|.	ENSG00000184716|ENSG00000184716	ENST00000319327;ENST00000249714|ENST00000299969	T;T|T	0.13089|0.32023	2.62;2.62|1.47	5.97|5.97	2.94|2.94	0.34122|0.34122	.|.	0.616711|.	0.17711|.	N|.	0.164570|.	T|T	0.27524|0.27524	0.0676|0.0676	L|L	0.57536|0.57536	1.79|1.79	0.23962|0.23962	N|N	0.99633|0.99633	P|B	0.44044|0.15141	0.825|0.012	B|B	0.42827|0.09377	0.399|0.004	T|T	0.14337|0.14337	-1.0476|-1.0476	10|9	0.21540|0.40728	T|T	0.41|0.16	-12.0706|-12.0706	6.4411|6.4411	0.21851|0.21851	0.0832:0.0:0.5901:0.3268|0.0832:0.0:0.5901:0.3268	.|.	163|333	A6NH21-2|A6NM42	.|.	E|N	407;163|333	ENSP00000319796:D407E;ENSP00000249714:D163E|ENSP00000299969:T333N	ENSP00000249714:D163E|ENSP00000299969:T333N	D|T	-|-	3|2	2|0	SERINC4|SERINC4	41875000|41875000	0.227000|0.227000	0.23707|0.23707	0.991000|0.991000	0.47740|0.47740	0.012000|0.012000	0.07955|0.07955	0.683000|0.683000	0.25349|0.25349	1.517000|1.517000	0.48917|0.48917	-0.181000|-0.181000	0.13052|0.13052	GAC|ACC	-	pfam_TMS_TDE		0.562	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SERINC4	protein_coding	OTTHUMT00000133485.2	G		-		44087708	-1	no_errors	ENST00000249714	ensembl	human	known	74_37	missense	SNP	0.304	T	T	44087708	G	T	44087708	3	4	188	1	0	0	0	0	1	0	0	0	14090	1252	44	3	343	3	SERINC4	15	44087708	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		44087708	58443684	35	12971											
CIITA	4261	genome.wustl.edu	37	chr16	11016348	11016348	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatgtggagacgctggcGtaagtccaggcaaccctggt	13	12	1	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr16:11016348G>A	ENST00000324288.8	+	18	3450		c.e18+1		CIITA_ENST00000381835.5_Splice_Site	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator						aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGACGCTGGCGTAAGTCCAGG	0.607			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0			GRCh37	CS971796	CIITA	S		ENSG00000179583						30	32	31					16																	11016348		2197	4300	6497	CIITA	SO:0001630	splice_region_variant	0			-	HGNC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3317+1G>A	16.37:g.11016348G>A		Somatic	0	63	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	74	27.45	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Splice_Site	SNP	27	0	0	41	19.61	10	-	e18+1	ENST00000324288.8	37	c.3317+1	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521641	0.64747	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3515	0.66705	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIITA	10923849	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.974000	0.63771	2.445000	0.82738	0.561000	0.74099	.	-	-		0.607	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	protein_coding	OTTHUMT00000251966.2	G	NM_000246	-	Intron	11016348	1	no_errors	ENST00000324288	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	11016348	G	A	11016348	5	1	188	1	0	0	0	0	0	0	1	0	3430	1159	40	1	3388	1	CIITA	16	11016348	Splice_Site	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		11016348	79338405	36	12972											
SF3B3	23450	genome.wustl.edu	37	chr16	70595541	70595541	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttttcccctcaggtattggcCatgtcaagccgctcatggtt	9	12	3	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr16:70595541C>G	ENST00000302516.5	+	17	2353	c.2142C>G	c.(2140-2142)gcC>gcG	p.A714A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	714					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGGTATTGGCCATGTCAAGCC	0.448																																																	0								ENSG00000189091						122	115	118					16																	70595541		2198	4300	6498	SF3B3	SO:0001819	synonymous_variant	0			-	HGNC	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2142C>G	16.37:g.70595541C>G		Somatic	0	45	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	20	0	0	19	26.92	7	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.A714	ENST00000302516.5	37	c.2142	CCDS10894.1	16																																																																																			-	superfamily_WD40_repeat_dom		0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	protein_coding	OTTHUMT00000268972.1	C	NM_012426	-		70595541	1	no_errors	ENST00000302516	ensembl	human	known	74_37	silent	SNP	1.000	G	G	70595541	C	G	70595541	2	3	188	1	0	0	0	0	0	0	0	1	14160	581	21	4		4	SF3B3	16	70595541	Silent	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	59579193	70595541	19759212	37	12973											
C17orf68	80169	genome.wustl.edu	37	chr17	8134669	8134669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacatcttggatatcctggGagctttcaagctccagagtc	10	11	2	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr17:8134669G>A	ENST00000315684.8	-	15	2601	c.2594C>T	c.(2593-2595)tCc>tTc	p.S865F		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	865					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GATATCCTGGGAGCTTTCAAG	0.532																																																	0								ENSG00000178971						58	58	58					17																	8134669		1978	4166	6144	CTC1	SO:0001583	missense	0			-	HGNC	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2594C>T	17.37:g.8134669G>A	ENSP00000313759:p.Ser865Phe	Somatic	0	41	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	27	0	0	31	54.41	37	NULL	p.S865F	ENST00000315684.8	37	c.2594	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569898	0.13560	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83673	-1.75;-1.75	5.38	3.38	0.38709	.	0.431890	0.24940	N	0.034384	D	0.84995	0.5596	L	0.57536	1.79	0.09310	N	1	P	0.52061	0.95	P	0.53062	0.717	T	0.77603	-0.2526	10	0.62326	D	0.03	-8.5291	12.3208	0.54983	0.0:0.3498:0.6502:0.0	.	865	Q2NKJ3	CTC1_HUMAN	F	865;830	ENSP00000313759:S865F;ENSP00000396018:S830F	ENSP00000313759:S865F	S	-	2	0	CTC1	8075394	0.365000	0.25006	0.005000	0.12908	0.042000	0.13812	1.457000	0.35212	0.830000	0.34757	0.655000	0.94253	TCC	-	NULL		0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	protein_coding	OTTHUMT00000442012.1	G	NM_025099	-		8134669	-1	no_errors	ENST00000315684	ensembl	human	known	74_37	missense	SNP	0.011	A	A	8134669	G	A	8134669	3	1	188	1	0	0	0	0	1	0	0	0	1878	1174	41	2	1095	2	C17orf68	17	8134669	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		8134669	73060541	38	12974											
COX10	1352	genome.wustl.edu	37	chr17	14110294	14110294	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccactgcctggccctgctcGtgctgtccgcagcagcccct	11	19	0	0	rs111541535	byFrequency	TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr17:14110294G>C	ENST00000261643.3	+	7	1173	c.1096G>C	c.(1096-1098)Gtg>Ctg	p.V366L	COX10_ENST00000537334.1_Missense_Mutation_p.V149L|COX10_ENST00000536205.1_Missense_Mutation_p.V174L	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	366					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)		GGCCCTGCTCGTGCTGTCCGC	0.657																																																	0								ENSG00000006695						96	80	86					17																	14110294		2203	4300	6503	COX10	SO:0001583	missense	0			-	HGNC	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.1096G>C	17.37:g.14110294G>C	ENSP00000261643:p.Val366Leu	Somatic	0	46	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	30	0	0	41	6.82	3	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.V366L	ENST00000261643.3	37	c.1096	CCDS11166.1	17	.	.	.	.	.	.	.	.	.	.	G	0.541	-0.853485	0.02630	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.92495	-3.05;-3.05;-3.05	4.79	4.79	0.61399	.	0.522967	0.21277	N	0.077210	T	0.78065	0.4225	N	0.01473	-0.845	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.52881	-0.8516	10	0.02654	T	1	-18.4084	18.2004	0.89836	0.0:0.0:1.0:0.0	.	174;366	B4DJ50;Q12887	.;COX10_HUMAN	L	366;174;149	ENSP00000261643:V366L;ENSP00000439494:V174L;ENSP00000443354:V149L	ENSP00000261643:V366L	V	+	1	0	COX10	14051019	0.987000	0.35691	0.004000	0.12327	0.031000	0.12232	6.076000	0.71267	2.386000	0.81285	0.561000	0.74099	GTG	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase		0.657	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	protein_coding	OTTHUMT00000130003.1	G	NM_001303	-		14110294	1	no_errors	ENST00000261643	ensembl	human	known	74_37	missense	SNP	0.063	C	C	14110294	G	C	14110294	3	2	188	1	0	0	0	0	1	0	0	0	3764	1145	40	4	1122	4	COX10	17	14110294	Missense_Mutation	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09	5975625	14110294	67084916	39	12975											
CCDC56	28958	genome.wustl.edu	37	chr17	40950489	40950489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacacggacggatacaaaTagccaacaccagggccccga	9	14	0	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr17:40950489T>C	ENST00000328434.7	-	1	233	c.211A>G	c.(211-213)Att>Gtt	p.I71V	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_001040431.1	NP_001035521.1	Q9Y2R0	COA3_HUMAN	cytochrome c oxidase assembly factor 3	71					mitochondrial respiratory chain complex IV assembly (GO:0033617)|positive regulation of mitochondrial translation (GO:0070131)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											CGGATACAAATAGCCAACACC	0.592																																																	0								ENSG00000183978						64	66	65					17																	40950489		2203	4299	6502	COA3	SO:0001583	missense	0			-	HGNC	AF070665	CCDS32660.1	17q21.31	2014-01-28	2012-10-15	2012-08-07				"Mitochondrial respiratory chain complex assembly factors"	24990	protein-coding gene	gene with protein product		614775	"coiled-coil domain containing 56"	CCDC56		22356826, 22610097	Standard	NM_001040431		Approved	HSPC009, MITRAC12	uc010wgz.2	Q9Y2R0		ENST00000328434.7:c.211A>G	17.37:g.40950489T>C	ENSP00000354762:p.Ile71Val	Somatic	0	52	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	A8K498	Missense_Mutation	SNP	23	0	0	40	28.57	16	pfam_Coiled-coil_56	p.I71V	ENST00000328434.7	37	c.211	CCDS32660.1	17	.	.	.	.	.	.	.	.	.	.	T	21.9	4.218637	0.79464	.	.	ENSG00000183978	ENST00000328434	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.79811	-0.1646	9	0.72032	D	0.01	.	15.2055	0.73175	0.0:0.0:0.0:1.0	.	71	Q9Y2R0	CCD56_HUMAN	V	71	.	ENSP00000354762:I71V	I	-	1	0	CCDC56	38204015	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.336000	0.79245	2.257000	0.74773	0.528000	0.53228	ATT	-	pfam_Coiled-coil_56		0.592	COA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA3	protein_coding	OTTHUMT00000452397.1	T	NM_014019	-		40950489	-1	no_errors	ENST00000328434	ensembl	human	known	74_37	missense	SNP	1.000	C	C	40950489	T	C	40950489	3	2	188	1	0	0	0	0	1	0	0	0	2828	1406	49	5	117	5	CCDC56	17	40950489	Missense_Mutation	SNP	T	TCGA-MO-A47R-01A-11D-A24N-09	26840195	40950489	40244721	40	12976											
SOX9	6662	genome.wustl.edu	37	chr17	70119794	70119794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccagaggggggcagacagCcccctatcgacttccgcgac	13	15	0	2			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr17:70119794C>A	ENST00000245479.2	+	3	1168	c.796C>A	c.(796-798)Ccc>Acc	p.P266T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	266					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GGGCAGACAGCCCCCTATCGA	0.652																																					Pancreas(42;83 1041 2320 35205 39456)												0								ENSG00000125398						60	70	67					17																	70119794		2203	4300	6503	SOX9	SO:0001583	missense	0			-	HGNC	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.796C>A	17.37:g.70119794C>A	ENSP00000245479:p.Pro266Thr	Somatic	0	40	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	Q53Y80	Missense_Mutation	SNP	31	0	0	39	4.88	2	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P266T	ENST00000245479.2	37	c.796	CCDS11689.1	17	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892754	0.52121	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.81821	-1.54	4.53	3.54	0.40534	.	0.255159	0.33364	N	0.004997	D	0.88317	0.6404	M	0.87180	2.865	0.50632	D	0.999886	D	0.60575	0.988	P	0.60068	0.868	D	0.87290	0.2298	10	0.27082	T	0.32	.	14.0688	0.64849	0.0:0.8474:0.1526:0.0	.	266	P48436	SOX9_HUMAN	T	266	ENSP00000245479:P266T	ENSP00000245479:P266T	P	+	1	0	SOX9	67631389	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.443000	0.80521	0.875000	0.35847	-0.502000	0.04539	CCC	-	NULL		0.652	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	protein_coding	OTTHUMT00000389032.1	C	NM_000346	-		70119794	1	no_errors	ENST00000245479	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70119794	C	A	70119794	3	1	188	1	0	0	0	0	1	0	0	0	14966	739	26	3	806	3	SOX9	17	70119794	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	29169305	70119794	11075416	41	12977											
DNAH17	8632	genome.wustl.edu	37	chr17	76567092	76567092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggggcttcaaatagagcaCgatgtcgttggcttccttca	11	9	2	1			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr17:76567092C>T	ENST00000585328.1	-	6	980	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V286M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	286	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAATAGAGCACGATGTCGTTG	0.572																																																	0								ENSG00000187775						51	31	38					17																	76567092		2203	4298	6501	DNAH17	SO:0001583	missense	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.856G>A	17.37:g.76567092C>T	ENSP00000465516:p.Val286Met	Somatic	0	53	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	30	33.33	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	21	0	0	46	14.81	8	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.V286M	ENST00000585328.1	37	c.856		17	.	.	.	.	.	.	.	.	.	.	C	4.160	0.028120	0.08054	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.57907	0.37	4.85	4.85	0.62838	.	.	.	.	.	T	0.45915	0.1366	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.35276	-0.9795	7	0.33141	T	0.24	.	9.2254	0.37402	0.0:0.8997:0.0:0.1003	.	.	.	.	M	286	ENSP00000374490:V286M	ENSP00000300671:V286M	V	-	1	0	DNAH17	74078687	0.005000	0.15991	0.028000	0.17463	0.039000	0.13416	1.512000	0.35812	2.244000	0.73946	0.655000	0.94253	GTG	-	pfam_Dynein_heavy_dom-1		0.572	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	C	NM_173628	-		76567092	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	0.019	T	T	76567092	C	T	76567092	3	4	188	1	0	0	0	0	1	0	0	0	4603	536	19	1	12836	1	DNAH17	17	76567092	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	6447298	76567092	4628118	42	12978											
BEST2	54831	genome.wustl.edu	37	chr19	12868642	12868642	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagctgcgtgtcggaggcGtctactggggccagctgctc	15	12	1	0			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr19:12868642G>T	ENST00000549706.1	+	10	1605	c.1281G>T	c.(1279-1281)gcG>gcT	p.A427A	BEST2_ENST00000042931.1_Silent_p.A427A|BEST2_ENST00000553030.1_Silent_p.A427A			Q8NFU1	BEST2_HUMAN	bestrophin 2	427					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TGTCGGAGGCGTCTACTGGGG	0.751																																																	0								ENSG00000039987						6	8	7					19																	12868642		1400	3179	4579	BEST2	SO:0001819	synonymous_variant	0			-	HGNC	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1281G>T	19.37:g.12868642G>T		Somatic	0	34	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q53YQ8|Q9NXP0	Silent	SNP	18	0	0	47	0.00	0	pfam_Bestrophin/UPF0187	p.A427	ENST00000549706.1	37	c.1281	CCDS42506.1	19																																																																																			-	NULL		0.751	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	protein_coding	OTTHUMT00000403343.1	G	NM_017682	-		12868642	1	no_errors	ENST00000042931	ensembl	human	known	74_37	silent	SNP	0.686	T	T	12868642	G	T	12868642	2	4	188	1	0	0	0	0	0	0	0	1	1405	1132	40	3		3	BEST2	19	12868642	Silent	SNP	G	TCGA-MO-A47R-01A-11D-A24N-09		12868642	46260341	43	12979											
PRX	57716	genome.wustl.edu	37	chr19	40902642	40902642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctggaagccgcacctcCggcacagccatctctggcac	9	18	2	0	rs546393524		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr19:40902642C>T	ENST00000324001.7	-	7	1887	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	539	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			GCCGCACCTCCGGCACAGCCA	0.597													c|||	1	0.000199681	0	0.0014	5008	,	,		17209	0		0	False		,,,				2504	0																0								ENSG00000105227						77	90	86					19																	40902642		2197	4290	6487	PRX	SO:0001819	synonymous_variant	0			-	HGNC	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.1617G>A	19.37:g.40902642C>T		Somatic	0	59	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	47	34.25	Q9BXL9|Q9HCF2	Silent	SNP	24	0	0	27	32.50	13	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P539	ENST00000324001.7	37	c.1617	CCDS33028.1	19																																																																																			-	NULL		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	C	NM_020956	-		40902642	-1	no_errors	ENST00000324001	ensembl	human	known	74_37	silent	SNP	0.000	T	T	40902642	C	T	40902642	2	4	188	1	0	0	0	0	0	0	0	1	12647	639	23	1		1	PRX	19	40902642	Silent	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	28034000	40902642	18226341	44	12980											
PSG8	440533	genome.wustl.edu	37	chr19	43262153	43262153	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaacagaaaatactcaCggaggagattcagggtgaat	13	5	2	4	rs533744633		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr19:43262153C>T	ENST00000306511.4	-	3	807		c.e3+1		PSG8_ENST00000600709.1_Splice_Site|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Splice_Site|PSG8_ENST00000404209.4_Splice_Site	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AAAATACTCACGGAGGAGATT	0.532													.|||	1	0.000199681	0	0	5008	,	,		19862	0		0.001	False		,,,				2504	0																0								ENSG00000124467						180	189	186					19																	43262153		2203	4299	6502	PSG8	SO:0001630	splice_region_variant	0			-	HGNC	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.709+1G>A	19.37:g.43262153C>T		Somatic	0	171	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	127	30.60	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Splice_Site	SNP	34	0	0	36	32.08	17	-	e3+1	ENST00000306511.4	37	c.709+1	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	C	4.192	0.034358	0.08101	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	.	.	.	1.53	0.393	0.16294	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9485	0.09358	0.0:0.7505:0.0:0.2495	.	.	.	.	.	-1	.	.	.	-	.	.	PSG8	47953993	0.054000	0.20591	0.020000	0.16555	0.010000	0.07245	-0.060000	0.11712	-0.000000	0.14550	0.298000	0.19748	.	-	-		0.532	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	protein_coding	OTTHUMT00000464526.1	C		-	Intron	43262153	-1	no_errors	ENST00000306511	ensembl	human	known	74_37	splice_site	SNP	0.059	T	T	43262153	C	T	43262153	5	4	188	1	0	0	0	0	0	0	1	0	12666	550	19	1	603	1	PSG8	19	43262153	Splice_Site	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	2359511	43262153	15866830	45	12981											
MICAL3	57553	genome.wustl.edu	37	chr22	18310466	18310466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcctcctctctctcaCggatatgagtccagtgcacg	7	15	3	1	rs200328549		TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr22:18310466C>A	ENST00000441493.2	-	22	3489	c.3137G>T	c.(3136-3138)cGt>cTt	p.R1046L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1046	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCTCTCTCACGGATATGAGT	0.637																																																	0								ENSG00000243156						22	25	24					22																	18310466		1968	4143	6111	MICAL3	SO:0001583	missense	0			-	HGNC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3137G>T	22.37:g.18310466C>A	ENSP00000416015:p.Arg1046Leu	Somatic	0	120	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	86	25.22	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	30	0	0	30	38.78	19	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R1046L	ENST00000441493.2	37	c.3137	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.091820|4.091820	0.76756|0.76756	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.63744|.	-0.06|.	4.95|4.95	1.7|1.7	0.24286|0.24286	.|.	.|.	.|.	.|.	.|.	T|T	0.51176|0.51176	0.1659|0.1659	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B|.	0.32160|.	0.358|.	B|.	0.31101|.	0.124|.	T|T	0.38585|0.38585	-0.9654|-0.9654	8|5	.|.	.|.	.|.	.|.	9.8375|9.8375	0.40977|0.40977	0.0:0.7759:0.0:0.2241|0.0:0.7759:0.0:0.2241	.|.	1046|.	Q7RTP6|.	MICA3_HUMAN|.	L|L	1046|28	ENSP00000416015:R1046L|.	.|.	R|V	-|-	2|1	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16690466|16690466	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.968000|0.968000	0.65278|0.65278	2.324000|2.324000	0.43831|0.43831	0.608000|0.608000	0.30000|0.30000	0.549000|0.549000	0.68633|0.68633	CGT|GTG	-	NULL		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	protein_coding	OTTHUMT00000447351.1	C		-		18310466	-1	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18310466	C	A	18310466	3	1	188	1	0	0	0	0	1	0	0	0	9573	536	19	3	2915	3	MICAL3	22	18310466	Missense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09		18310466	32994100	46	12982											
ENTHD1	150350	genome.wustl.edu	37	chr22	40139965	40139965	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacattttgggtggaaaactCcccccagtgactactagaaa	8	10	0	2			TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chr22:40139965C>A	ENST00000325157.6	-	7	1793	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	515										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGGAAAACTCCCCCCAGTGA	0.413																																																	0								ENSG00000176177						52	52	52					22																	40139965		2203	4300	6503	ENTHD1	SO:0001587	stop_gained	0			-	HGNC	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1543G>T	22.37:g.40139965C>A	ENSP00000317431:p.Glu515*	Somatic	0	41	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	B0QYD5|Q5H9F7|Q96LK3	Nonsense_Mutation	SNP	31	0	0	41	29.31	17	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.E515*	ENST00000325157.6	37	c.1543	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494157	0.85069	.	.	ENSG00000176177	ENST00000325157	.	.	.	5.75	4.55	0.56014	.	1.012140	0.07919	N	0.975663	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-4.0954	10.5424	0.45041	0.0:0.8995:0.0:0.1005	.	.	.	.	X	515	.	ENSP00000317431:E515X	E	-	1	0	ENTHD1	38469911	0.002000	0.14202	0.044000	0.18714	0.370000	0.29829	1.516000	0.35856	2.701000	0.92244	0.650000	0.86243	GAG	-	NULL		0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	protein_coding	OTTHUMT00000321302.1	C	NM_152512	-		40139965	-1	no_errors	ENST00000325157	ensembl	human	known	74_37	nonsense	SNP	0.002	A	A	40139965	C	A	40139965	4	1	188	1	0	0	0	0	0	1	0	0	5139	864	30	3	284	3	ENTHD1	22	40139965	Nonsense_Mutation	SNP	C	TCGA-MO-A47R-01A-11D-A24N-09	21829499	40139965	11164601	47	12983											
DOCK11	139818	genome.wustl.edu	37	chrX	117819720	117819720	+	Frame_Shift_Del	DEL	G	G	-													atgtattttgtgcaattagtGgtacatcaagtgaccgaggt							TCGA-MO-A47R-01A-11D-A24N-09	TCGA-MO-A47R-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5d3b6b-be5a-4e55-9255-32a069b8af3d	40925959-5b66-45a5-a8a2-61ee7e67b084	g.chrX:117819720delG	ENST00000276202.7	+	53	6235	c.6172delG	c.(6172-6174)ggtfs	p.G2058fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.G2062fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2058					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGCAATTAGTGGTACATCAAG	0.388																																																	0								ENSG00000147251						222	185	197					X																	117819720		2203	4300	6503	DOCK11	SO:0001589	frameshift_variant	0				HGNC	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6172delG	X.37:g.117819720delG	ENSP00000276202:p.Gly2058fs	Somatic	0	80	0		0.488407211347343				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	33	0	0	16	0.00	0	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G2058fs	ENST00000276202.7	37	c.6172	CCDS35373.1	X																																																																																			-	NULL		0.388	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	protein_coding	OTTHUMT00000356002.1	G	NM_144658			117819720	1	no_errors	ENST00000276202	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	117819720	G	-	117819720	7	5	188	1	0	1	0	1	0	0	0	0	4688	1348	47	0	6382	0	DOCK11	23	117819720	Frame_Shift_Del	DEL	G	TCGA-MO-A47R-01A-11D-A24N-09		117819720	37450840	48	12984											
KIF1B	23095	genome.wustl.edu	37	chr1	10383993	10383993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgtactcccctttgcctCctgaattacttcccactgag	5	16	0	2			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:10383993C>T	ENST00000377086.1	+	25	2612	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	KIF1B_ENST00000263934.6_Missense_Mutation_p.P758S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P804S			O60333	KIF1B_HUMAN	kinesin family member 1B	804					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTTTGCCTCCTGAATTACT	0.448																																																	0								ENSG00000054523						128	119	122					1																	10383993		2203	4300	6503	KIF1B	SO:0001583	missense	0			-	HGNC	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2410C>T	1.37:g.10383993C>T	ENSP00000366290:p.Pro804Ser	Somatic	0	55	0		0.586032912036718	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	55	25.68	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P758S	ENST00000377086.1	37	c.2272		1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184919	0.57909	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74106	-0.81;-0.81;-0.81	5.6	5.6	0.85130	.	0.054238	0.85682	D	0.000000	T	0.66557	0.2801	L	0.41573	1.285	0.80722	D	1	B;B;B;B;B;B	0.33212	0.025;0.025;0.019;0.402;0.005;0.011	B;B;B;B;B;B	0.33846	0.019;0.019;0.014;0.171;0.007;0.013	T	0.62982	-0.6738	10	0.06891	T	0.86	.	19.9659	0.97266	0.0:1.0:0.0:0.0	.	790;764;804;778;804;758	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	S	804;758;804;804	ENSP00000263934:P758S;ENSP00000366290:P804S;ENSP00000366284:P804S	ENSP00000263934:P758S	P	+	1	0	KIF1B	10306580	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.722000	0.68485	2.802000	0.96397	0.650000	0.86243	CCT	-	NULL		0.448	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	protein_coding	OTTHUMT00000005102.1	C		-		10383993	1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10383993	C	T	10383993	3	4	189	1	0	0	0	0	1	0	0	0	8286	855	30	2	3847	2	KIF1B	1	10383993	Missense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09		10383993	238866628	1	12985											
MACF1	23499	genome.wustl.edu	37	chr1	39888564	39888564	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggtgaaagcacagatccaaGaacagaaggtaagtgagaat	12	5	0	5			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:39888564G>T	ENST00000372915.3	+	59	16243	c.16156G>T	c.(16156-16158)Gaa>Taa	p.E5386*	MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3298*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E3319*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5418*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E5381*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E3319*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3821*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E3319*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5386					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGATCCAAGAACAGAAGGT	0.453																																																	0								ENSG00000127603						61	61	61					1																	39888564		2203	4300	6503	MACF1	SO:0001587	stop_gained	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16156G>T	1.37:g.39888564G>T	ENSP00000362006:p.Glu5386*	Somatic	0	54	0		0.586032912036718	61	6.15	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E3319*	ENST00000372915.3	37	c.9955		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	14.981501|14.981501	0.99818|0.99818	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	.|T	.|0.77011	.|0.4068	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73987	.|-0.3809	.|4	0.66056|.	D|.	0.02|.	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	3319;5386;3319;3319;3298;3821;135|2431	.|.	ENSP00000289893:E3821X|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39661151|39661151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAA|AGA	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-		39888564	1	no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	39888564	G	T	39888564	4	4	189	1	0	0	0	0	0	1	0	0	9146	943	33	3	16324	3	MACF1	1	39888564	Nonsense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	29504571	39888564	209362057	2	12986											
BCL9	607	genome.wustl.edu	37	chr1	147084929	147084929	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcaaggggaaaagggagCgaagtatttccgccgactcc	15	9	0	0			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:147084929C>T	ENST00000234739.3	+	5	1041	c.301C>T	c.(301-303)Cga>Tga	p.R101*	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	101					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAAAGGGAGCGAAGTATTTC	0.532			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0								ENSG00000116128						49	54	52					1																	147084929		2203	4300	6503	BCL9	SO:0001587	stop_gained	0			-	HGNC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.301C>T	1.37:g.147084929C>T	ENSP00000234739:p.Arg101*	Somatic	0	91	0		0.586032912036718	25	16.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	106	15.20	Q5T489	Nonsense_Mutation	SNP							pfam_BCL9_beta-catenin-bd_dom	p.R101*	ENST00000234739.3	37	c.301	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.475636	0.99412	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.4	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4576	11.3705	0.49697	0.3448:0.6552:0.0:0.0	.	.	.	.	X	101	.	ENSP00000234739:R101X	R	+	1	2	BCL9	145551553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.131000	0.64751	2.797000	0.96272	0.655000	0.94253	CGA	-	NULL		0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	protein_coding	OTTHUMT00000039468.1	C	NM_004326	-		147084929	1	no_errors	ENST00000234739	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	147084929	C	T	147084929	4	4	189	1	0	0	0	0	0	1	0	0	1381	760	27	1	307	1	BCL9	1	147084929	Nonsense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09	107196365	147084929	102165692	3	12987											
FCER1A	2205	genome.wustl.edu	37	chr1	159277654	159277654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacatttctcttgaagAttaagagaaccaggaaaggc	10	7	2	3			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:159277654A>G	ENST00000368115.1	+	6	805	c.706A>G	c.(706-708)Att>Gtt	p.I236V	FCER1A_ENST00000368114.1_Missense_Mutation_p.I203V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	236					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCTCTTGAAGATTAAGAGAAC	0.388																																																	0								ENSG00000179639						101	97	98					1																	159277654		2203	4300	6503	FCER1A	SO:0001583	missense	0			-	HGNC	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.706A>G	1.37:g.159277654A>G	ENSP00000357097:p.Ile236Val	Somatic	0	67	0		0.586032912036718	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	39	57.14		Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I236V	ENST00000368115.1	37	c.706	CCDS1184.1	1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335421	0.41398	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02177	4.85;4.41	5.37	1.54	0.23209	.	6.380780	0.00397	N	0.000050	T	0.00784	0.0026	L	0.50333	1.59	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.50591	-0.8810	10	0.14656	T	0.56	.	5.1399	0.14954	0.5099:0.1678:0.0:0.3223	.	236	P12319	FCERA_HUMAN	V	236;203	ENSP00000357097:I236V;ENSP00000357096:I203V	ENSP00000357096:I203V	I	+	1	0	FCER1A	157544278	0.061000	0.20836	0.159000	0.22649	0.535000	0.34838	0.538000	0.23160	0.083000	0.17047	0.528000	0.53228	ATT	-	NULL		0.388	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCER1A	protein_coding	OTTHUMT00000090328.2	A	NM_002001	-		159277654	1	no_errors	ENST00000368115	ensembl	human	known	74_37	missense	SNP	0.106	G	G	159277654	A	G	159277654	3	3	189	1	0	0	0	0	1	0	0	0	5776	333	12	5	724	5	FCER1A	1	159277654	Missense_Mutation	SNP	A	TCGA-N1-A6IA-01A-12D-A32I-09	12192725	159277654	89972967	4	12988											
IRF6	3664	genome.wustl.edu	37	chr1	209969876	209969876	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccaccccttcctggtactTccctgtctctacagcccagg	6	18	1	0			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:209969876T>A	ENST00000367021.3	-	4	368	c.196A>T	c.(196-198)Aag>Tag	p.K66*	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	66			K -> T (in PPS). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCTGGTACTTCCCTGTCTCT	0.512										HNSCC(57;0.16)																																							0								ENSG00000117595						84	60	68					1																	209969876		2203	4300	6503	IRF6	SO:0001587	stop_gained	0			-	HGNC	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.196A>T	1.37:g.209969876T>A	ENSP00000355988:p.Lys66*	Somatic	0	40	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP							pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.K66*	ENST00000367021.3	37	c.196	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	T	38	7.054665	0.98032	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	.	.	.	X	66	.	.	K	-	1	0	IRF6	208036499	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	7.516000	0.81772	2.145000	0.66743	0.533000	0.62120	AAG	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	protein_coding	OTTHUMT00000088827.1	T	NM_006147	-		209969876	-1	no_errors	ENST00000367021	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	209969876	T	A	209969876	4	1	189	1	0	0	0	0	0	1	0	0	7836	1792	62	5	1231	5	IRF6	1	209969876	Nonsense_Mutation	SNP	T	TCGA-N1-A6IA-01A-12D-A32I-09	50692222	209969876	39280745	5	12989											
NUP133	55746	genome.wustl.edu	37	chr1	229606361	229606361	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	catctgcaggagtcaggttgGatgggatttcatactccctc	11	10	3	0			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr1:229606361G>C	ENST00000261396.3	-	15	2133	c.2042C>G	c.(2041-2043)tCc>tGc	p.S681C	NUP133_ENST00000537506.1_Missense_Mutation_p.S665C	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	681					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTCAGGTTGGATGGGATTTC	0.473																																																	0								ENSG00000069248						122	119	120					1																	229606361		2203	4300	6503	NUP133	SO:0001583	missense	0			-	HGNC		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2042C>G	1.37:g.229606361G>C	ENSP00000261396:p.Ser681Cys	Somatic	0	68	0		0.586032912036718	24	40	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.00	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP							pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.S681C	ENST00000261396.3	37	c.2042	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920085	0.17982	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.24350	1.86;1.86;1.86	5.56	1.41	0.22369	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.807892	0.12081	N	0.501327	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	P	0.45126	0.851	P	0.47626	0.552	T	0.11446	-1.0587	10	0.56958	D	0.05	-24.0942	5.4333	0.16466	0.0632:0.2276:0.4743:0.2349	.	681	Q8WUM0	NU133_HUMAN	C	681;681;681;665	ENSP00000261396:S681C;ENSP00000355640:S681C;ENSP00000443496:S665C	ENSP00000261396:S681C	S	-	2	0	NUP133	227672984	0.003000	0.15002	0.003000	0.11579	0.243000	0.25628	1.070000	0.30653	0.071000	0.16664	0.655000	0.94253	TCC	-	pfam_Nucleoporin_Nup133/Nup155_C		0.473	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	protein_coding	OTTHUMT00000095224.1	G	NM_018230	-		229606361	-1	no_errors	ENST00000261396	ensembl	human	known	74_37	missense	SNP	0.002	C	C	229606361	G	C	229606361	3	2	189	1	0	0	0	0	1	0	0	0	10756	1174	41	4	1476	4	NUP133	1	229606361	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	19636485	229606361	19644260	6	12990											
FAM98A	25940	genome.wustl.edu	37	chr2	33812338	33812338	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattggcttcttcagtAaaggctttcccacatgatta	7	11	2	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr2:33812338A>C	ENST00000238823.8	-	5	712	c.572T>G	c.(571-573)tTa>tGa	p.L191*	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000403368.1_Nonsense_Mutation_p.L191*			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	192							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTTCTTCAGTAAAGGCTTTCC	0.338																																																	0								ENSG00000119812						116	117	117					2																	33812338		2203	4300	6503	FAM98A	SO:0001587	stop_gained	0			-	HGNC		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.572T>G	2.37:g.33812338A>C	ENSP00000238823:p.Leu191*	Somatic	0	41	0		0.586032912036718	47	22.95	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP							pfam_Uncharacterised_FAM98	p.L191*	ENST00000238823.8	37	c.572	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	A	35	5.592205	0.96590	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1656	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	X	191;192;191	.	ENSP00000238823:L191X	L	-	2	0	FAM98A	33665842	0.997000	0.39634	0.997000	0.53966	0.993000	0.82548	8.678000	0.91211	2.371000	0.80710	0.533000	0.62120	TTA	-	pfam_Uncharacterised_FAM98		0.338	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	protein_coding	OTTHUMT00000325457.2	A	NM_015475	-		33812338	-1	no_errors	ENST00000238823	ensembl	human	known	74_37	nonsense	SNP	0.890	C	C	33812338	A	C	33812338	4	2	189	1	0	0	0	0	0	1	0	0	5658	372	13	5	1000	5	FAM98A	2	33812338	Nonsense_Mutation	SNP	A	TCGA-N1-A6IA-01A-12D-A32I-09		33812338	209387035	7	12991											
PNPT1	87178	genome.wustl.edu	37	chr2	55882064	55882064	+	Frame_Shift_Del	DEL	C	C	-													ttaatgctaaacttccgccaCatgcagatgccatagaagat							TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr2:55882064delC	ENST00000447944.2	-	18	1552	c.1466delG	c.(1465-1467)tgtfs	p.C489fs		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	489					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTTCCGCCACATGCAGATGC	0.363																																																	0								ENSG00000138035						77	83	81					2																	55882064		2203	4300	6503	PNPT1	SO:0001589	frameshift_variant	0				HGNC	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1466delG	2.37:g.55882064delC	ENSP00000400646:p.Cys489fs	Somatic	0	44	0		0.586032912036718	86	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Frame_Shift_Del	DEL							pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.C489fs	ENST00000447944.2	37	c.1466	CCDS1856.1	2																																																																																			-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase		0.363	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	protein_coding	OTTHUMT00000251481.2	C	NM_033109			55882064	-1	no_errors	ENST00000415374	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	55882064	C	-	55882064	7	5	189	1	0	1	0	1	0	0	0	0	12175	478	17	0	929	0	PNPT1	2	55882064	Frame_Shift_Del	DEL	C	TCGA-N1-A6IA-01A-12D-A32I-09	22069726	55882064	187317309	8	12992											
BSN	8927	genome.wustl.edu	37	chr3	49700331	49700331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatcacctgggccaggaggaGacggactggtttgataagcc	14	9	1	2			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr3:49700331G>T	ENST00000296452.4	+	7	10854	c.10740G>T	c.(10738-10740)gaG>gaT	p.E3580D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3580					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)		GCCAGGAGGAGACGGACTGGT	0.612																																																	0								ENSG00000164061						68	68	68					3																	49700331		2203	4300	6503	BSN	SO:0001583	missense	0			-	HGNC	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.10740G>T	3.37:g.49700331G>T	ENSP00000296452:p.Glu3580Asp	Somatic	0	92	0		0.586032912036718	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	43	38.57	O43161|Q7LGH3	Missense_Mutation	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E3580D	ENST00000296452.4	37	c.10740	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646766	0.29246	.	.	ENSG00000164061	ENST00000296452	T	0.26373	1.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.70595	2.14	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.49331	-0.8951	10	0.87932	D	0	-11.4205	12.9835	0.58577	0.0739:0.0:0.9261:0.0	.	3580	Q9UPA5	BSN_HUMAN	D	3580	ENSP00000296452:E3580D	ENSP00000296452:E3580D	E	+	3	2	BSN	49675335	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.711000	0.47177	2.679000	0.91253	0.655000	0.94253	GAG	-	NULL		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	G	NM_003458	-		49700331	1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49700331	G	T	49700331	3	4	189	1	0	0	0	0	1	0	0	0	1532	933	33	3	10766	3	BSN	3	49700331	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09		49700331	148322099	9	12993											
N4BP2	55728	genome.wustl.edu	37	chr4	40108621	40108621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaagtacttaggagaagCacatgaatggaaccagaatc	10	6	0	3			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr4:40108621C>T	ENST00000261435.6	+	5	1891	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	492					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAGGAGAAGCACATGAATGG	0.333																																																	0								ENSG00000078177						74	76	76					4																	40108621		2203	4300	6503	N4BP2	SO:0001583	missense	0			-	HGNC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1475C>T	4.37:g.40108621C>T	ENSP00000261435:p.Ala492Val	Somatic	0	73	0		0.586032912036718	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	53	50.93	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP							pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.A492V	ENST00000261435.6	37	c.1475	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017730	0.93404	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.40225	1.04	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	L	0.43757	1.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60855	-0.7180	10	0.72032	D	0.01	-16.4039	19.5377	0.95260	0.0:1.0:0.0:0.0	.	492;492	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	492;412	ENSP00000261435:A492V	ENSP00000261435:A492V	A	+	2	0	N4BP2	39785016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.689000	0.91719	0.591000	0.81541	GCA	-	superfamily_P-loop_NTPase		0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	protein_coding	OTTHUMT00000250458.2	C	NM_018177	-		40108621	1	no_errors	ENST00000261435	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40108621	C	T	40108621	3	4	189	1	0	0	0	0	1	0	0	0	10112	710	25	2	1485	2	N4BP2	4	40108621	Missense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09		40108621	151045655	10	12994											
VDAC1	7416	genome.wustl.edu	37	chr5	133308469	133308469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacagtattcatttatgctTgaaattccagtcctagacca	6	9	1	2			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr5:133308469T>G	ENST00000265333.3	-	9	1089	c.845A>C	c.(844-846)cAa>cCa	p.Q282P	VDAC1_ENST00000395047.2_Missense_Mutation_p.Q282P|VDAC1_ENST00000395044.3_Missense_Mutation_p.Q282P	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	282					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTATGCTTGAAATTCCAG	0.378																																					NSCLC(127;1776 1806 35523 41489 48154)												0								ENSG00000213585						31	32	32					5																	133308469		2200	4279	6479	VDAC1	SO:0001583	missense	0			-	HGNC		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.845A>C	5.37:g.133308469T>G	ENSP00000265333:p.Gln282Pro	Somatic	0	43	0		0.586032912036718	391	16.06	75	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP							pfam_Porin_Euk/Tom40,prints_Porin_Euk	p.Q282P	ENST00000265333.3	37	c.845	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001219	0.54254	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.45668	0.89;0.89;0.89	5.15	5.15	0.70609	.	0.118551	0.64402	D	0.000019	T	0.38639	0.1048	L	0.34521	1.04	0.58432	D	0.999999	B	0.16802	0.019	B	0.29862	0.108	T	0.31558	-0.9939	10	0.87932	D	0	.	15.4286	0.75075	0.0:0.0:0.0:1.0	.	282	P21796	VDAC1_HUMAN	P	282	ENSP00000265333:Q282P;ENSP00000378484:Q282P;ENSP00000378487:Q282P	ENSP00000265333:Q282P	Q	-	2	0	VDAC1	133336368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.798000	0.85924	2.288000	0.76882	0.533000	0.62120	CAA	-	NULL		0.378	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	protein_coding	OTTHUMT00000259208.1	T		-		133308469	-1	no_errors	ENST00000265333	ensembl	human	known	74_37	missense	SNP	1.000	G	G	133308469	T	G	133308469	3	3	189	1	0	0	0	0	1	0	0	0	17153	1812	63	5	10	5	VDAC1	5	133308469	Missense_Mutation	SNP	T	TCGA-N1-A6IA-01A-12D-A32I-09		133308469	47606791	11	12995											
HTR1E	3354	genome.wustl.edu	37	chr6	87725415	87725415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgccctggacaggtaCtgggccatcaccaatgctat	10	12	2	0			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr6:87725415C>T	ENST00000305344.5	+	2	1066	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	121					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGGACAGGTACTGGGCCATCA	0.557																																																	0								ENSG00000168830						110	88	95					6																	87725415		2203	4300	6503	HTR1E	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.363C>T	6.37:g.87725415C>T		Somatic	0	33	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	E1P503|Q9P1Y1	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.Y121	ENST00000305344.5	37	c.363	CCDS5006.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	protein_coding	OTTHUMT00000472488.2	C	NM_000865	-		87725415	1	no_errors	ENST00000305344	ensembl	human	known	74_37	silent	SNP	1.000	T	T	87725415	C	T	87725415	2	4	189	1	0	0	0	0	0	0	0	1	7441	576	20	2		2	HTR1E	6	87725415	Silent	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09		87725415	83389652	12	12996											
ZNF736	728927	genome.wustl.edu	37	chr7	63808779	63808780	+	Frame_Shift_Del	DEL	AA	AA	-													acaaatgtgaagaatgtggcAaagactgtaggttgttctca							TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr7:63808779_63808780delAA	ENST00000423484.2	+	4	660_661	c.538_539delAA	c.(538-540)aaafs	p.K180fs	ZNF736_ENST00000355095.4_Frame_Shift_Del_p.K180fs			B4DX44	ZN736_HUMAN	zinc finger protein 736	180					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(6)|stomach(1)|urinary_tract(1)	9						AGAATGTGGCAAAGACTGTAGG	0.347																																																	0								ENSG00000234444																																			ZNF736	SO:0001589	frameshift_variant	0				HGNC		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.538_539delAA	7.37:g.63808779_63808780delAA	ENSP00000400852:p.Lys180fs	Somatic	0	47	0		0.586032912036718	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24		Frame_Shift_Del	DEL							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K180fs	ENST00000423484.2	37	c.538_539	CCDS55114.1	7																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.347	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	protein_coding	OTTHUMT00000344559.2	AA	NM_001170905			63808780	1	no_errors	ENST00000355095	ensembl	human	known	74_37	frame_shift_del	DEL	0.997:0.991	-	-	63808780	AA	-	63808779	7	5	189	1	0	1	0	1	0	0	0	0	18132	131	5	0	552	0	ZNF736	7	63808779	Frame_Shift_Del	DEL	AA	TCGA-N1-A6IA-01A-12D-A32I-09		63808779	95329884	13	12997											
ELN	2006	genome.wustl.edu	37	chr7	73471034	73471034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgccgccaaggctGccaagtacggtaagtgcccc	12	15	0	0			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr7:73471034G>A	ENST00000252034.7	+	21	1747	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	ELN_ENST00000380584.4_Missense_Mutation_p.A436T|ELN_ENST00000380575.4_Missense_Mutation_p.A440T|ELN_ENST00000429192.1_Missense_Mutation_p.A455T|ELN_ENST00000320399.6_Missense_Mutation_p.A450T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.A445T|ELN_ENST00000445912.1_Missense_Mutation_p.A450T|ELN_ENST00000358929.4_Missense_Mutation_p.A450T|ELN_ENST00000380553.4_Missense_Mutation_p.A333T|ELN_ENST00000380562.4_Missense_Mutation_p.A450T|ELN_ENST00000320492.7_Missense_Mutation_p.A388T|ELN_ENST00000380576.5_Missense_Mutation_p.A450T|ELN_ENST00000458204.1_Missense_Mutation_p.A440T|ELN_ENST00000357036.5_Missense_Mutation_p.A455T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				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)			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)				CGCCAAGGCTGCCAAGTACGG	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0								ENSG00000049540						44	45	45					7																	73471034		2203	4300	6503	ELN	SO:0001583	missense	0			-	HGNC		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.1348G>A	7.37:g.73471034G>A	ENSP00000252034:p.Ala450Thr	Somatic	0	65	0		0.586032912036718	139	19.19	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP							prints_Tropoelastin	p.A450T	ENST00000252034.7	37	c.1348	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613918	0.46631	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	1.42;1.43;0.88;1.36;1.35;1.29;1.43;1.32;1.42;1.42;1.35;1.36;1.39;1.44	3.91	3.91	0.45181	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.34043	D	0.655224	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.77557	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	T	0.52026	-0.8630	8	0.11485	T	0.65	-11.9038	11.7797	0.52006	0.0:0.0:1.0:0.0	.	450;419;388;445;440;450;440;455;455;450;333;380;436;450	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	450;450;450;388;445;450;440;436;440;455;455;419;333;450;450	ENSP00000389857:A450T;ENSP00000252034:A450T;ENSP00000351807:A450T;ENSP00000315607:A388T;ENSP00000392575:A445T;ENSP00000369936:A450T;ENSP00000369949:A440T;ENSP00000369958:A436T;ENSP00000403162:A440T;ENSP00000349540:A455T;ENSP00000391129:A455T;ENSP00000369926:A333T;ENSP00000369950:A450T;ENSP00000313565:A450T	ENSP00000252034:A450T	A	+	1	0	ELN	73108970	0.952000	0.32445	0.994000	0.49952	0.602000	0.36980	4.283000	0.58977	2.215000	0.71742	0.449000	0.29647	GCC	-	NULL		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	-		73471034	1	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	SNP	0.997	A	A	73471034	G	A	73471034	3	1	189	1	0	0	0	0	1	0	0	0	5073	1319	46	2	1445	2	ELN	7	73471034	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	9662255	73471034	85667629	14	12998											
RNF170	81790	genome.wustl.edu	37	chr8	42725241	42725241	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagaactgctgtcgagtGgcagcaggtgcatcctaata	13	8	0	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr8:42725241G>T	ENST00000534961.1	-	4	704	c.228C>A	c.(226-228)gcC>gcA	p.A76A	RNF170_ENST00000319073.4_Missense_Mutation_p.P5Q|RNF170_ENST00000526349.1_5'UTR|RNF170_ENST00000319104.3_Silent_p.A76A|RNF170_ENST00000527424.1_Silent_p.A76A	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	76					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A76A(1)		lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCTGTCGAGTGGCAGCAGGTG	0.473																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000120925						112	95	101					8																	42725241		2203	4300	6503	RNF170	SO:0001819	synonymous_variant	0			-	HGNC	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"RING-type (C3HC4) zinc fingers"	25358	protein-coding gene	gene with protein product		614649	"sensory ataxia 1 (autosomal dominant)"	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.228C>A	8.37:g.42725241G>T		Somatic	0	44	0		0.586032912036718	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP							pfam_DUF1232	p.P5Q	ENST00000534961.1	37	c.14	CCDS6138.1	8	.	.	.	.	.	.	.	.	.	.	G	8.987	0.976742	0.18812	.	.	ENSG00000120925	ENST00000319073	T	0.80123	-1.34	5.63	-4.95	0.03048	.	.	.	.	.	T	0.63757	0.2538	.	.	.	0.09310	N	1	B	0.26258	0.145	B	0.21151	0.033	T	0.51301	-0.8723	8	0.51188	T	0.08	-0.2731	3.9045	0.09176	0.4068:0.1082:0.3802:0.1048	.	5	Q96K19-4	.	Q	5	ENSP00000325969:P5Q	ENSP00000325969:P5Q	P	-	2	0	RNF170	42844398	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.041000	0.12084	-0.781000	0.04548	-1.934000	0.00508	CCA	-	NULL		0.473	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF170	protein_coding	OTTHUMT00000383166.1	G	NM_030954	-		42725241	-1	no_errors	ENST00000319073	ensembl	human	known	74_37	missense	SNP	0.000	T	T	42725241	G	T	42725241	2	4	189	1	0	0	0	0	0	0	0	1	13470	1335	47	3		3	RNF170	8	42725241	Silent	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09		42725241	103638781	15	12999											
PHRF1	57661	genome.wustl.edu	37	chr11	610995	610995	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggagcgtgctgtggaggaGgtgaagctggccatcaagcc	17	9	1	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr11:610995G>C	ENST00000264555.5	+	17	4847	c.4719G>C	c.(4717-4719)gaG>gaC	p.E1573D	PHRF1_ENST00000416188.2_Missense_Mutation_p.E1572D|PHRF1_ENST00000413872.2_Missense_Mutation_p.E1571D|PHRF1_ENST00000533464.1_Missense_Mutation_p.E1569D	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1573					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGTGGAGGAGGTGAAGCTGG	0.597																																																	0								ENSG00000070047						92	94	94					11																	610995		2202	4300	6502	PHRF1	SO:0001583	missense	0			-	HGNC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4719G>C	11.37:g.610995G>C	ENSP00000264555:p.Glu1573Asp	Somatic	0	59	0		0.586032912036718	38	56.32	49	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	22	48.84	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1573D	ENST00000264555.5	37	c.4719		11	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818784	0.32145	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	4.34	1.33	0.21861	.	0.000000	0.36338	N	0.002643	T	0.79551	0.4465	M	0.82823	2.61	0.37891	D	0.930712	D;D;D;D	0.89917	0.982;0.998;1.0;0.999	D;D;D;D	0.85130	0.952;0.995;0.997;0.994	T	0.80125	-0.1513	10	0.87932	D	0	-37.3089	8.8738	0.35332	0.3998:0.0:0.6002:0.0	.	1569;1571;1572;1573	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	D	1573;1571;1572;1569	ENSP00000264555:E1573D;ENSP00000388589:E1571D;ENSP00000410626:E1572D;ENSP00000431870:E1569D	ENSP00000264555:E1573D	E	+	3	2	PHRF1	600995	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	1.924000	0.40065	0.169000	0.19679	-0.291000	0.09656	GAG	-	NULL		0.597	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	protein_coding	OTTHUMT00000382133.1	G	NM_020901	-		610995	1	no_errors	ENST00000264555	ensembl	human	known	74_37	missense	SNP	1.000	C	C	610995	G	C	610995	3	2	189	1	0	0	0	0	1	0	0	0	11863	991	35	4	4778	4	PHRF1	11	610995	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09		610995	134395521	16	13000											
PRDM11	56981	genome.wustl.edu	37	chr11	45117420	45117420	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgccgggcctgcctgagaTgctcacctctcttcctttac	9	15	2	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr11:45117420T>A	ENST00000530656.1	+	1	64	c.64T>A	c.(64-66)Tgc>Agc	p.C22S	PRDM11_ENST00000263765.4_Missense_Mutation_p.C22S			Q9NQV5	PRD11_HUMAN	PR domain containing 11	22							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ctgcctgagatgctcacctct	0.527																																					NSCLC(118;1511 1736 6472 36603 43224)												0								ENSG00000019485						140	113	122					11																	45117420		2203	4299	6502	PRDM11	SO:0001583	missense	0			-	HGNC	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.64T>A	11.37:g.45117420T>A	ENSP00000435976:p.Cys22Ser	Somatic	0	39	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	Q8N9F1	Missense_Mutation	SNP							pfscan_SET_dom	p.C22S	ENST00000530656.1	37	c.64		11	.	.	.	.	.	.	.	.	.	.	T	6.374	0.437132	0.12104	.	.	ENSG00000019485	ENST00000263765;ENST00000530656	T;T	0.41400	1.0;1.0	2.93	-3.1	0.05315	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	9	0.87932	D	0	.	0.4157	0.00448	0.3678:0.1234:0.1877:0.3211	.	22	Q9NQV5	PRD11_HUMAN	S	22	ENSP00000263765:C22S;ENSP00000435976:C22S	ENSP00000263765:C22S	C	+	1	0	PRDM11	45073996	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.037000	0.03557	-0.677000	0.05231	0.459000	0.35465	TGC	-	NULL		0.527	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	protein_coding	OTTHUMT00000389928.1	T	NM_020229	-		45117420	1	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	SNP	0.000	A	A	45117420	T	A	45117420	3	1	189	1	0	0	0	0	1	0	0	0	12457	1464	51	5	66	5	PRDM11	11	45117420	Missense_Mutation	SNP	T	TCGA-N1-A6IA-01A-12D-A32I-09	44506425	45117420	89889096	17	13001											
PPP2R1B	5519	genome.wustl.edu	37	chr11	111612792	111612792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataccacttatagcttcctGtgcaaagtatttgacatcca	5	11	0	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr11:111612792G>T	ENST00000527614.1	-	14	1839	c.1774C>A	c.(1774-1776)Cag>Aag	p.Q592K	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.Q465K|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.Q547K|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.Q592K|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.Q431K|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.Q528K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	592					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ATAGCTTCCTGTGCAAAGTAT	0.388																																																	0								ENSG00000137713						214	189	198					11																	111612792		2201	4297	6498	PPP2R1B	SO:0001583	missense	0			-	HGNC	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1774C>A	11.37:g.111612792G>T	ENSP00000437193:p.Gln592Lys	Somatic	0	56	0		0.586032912036718	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q592K	ENST00000527614.1	37	c.1774	CCDS8349.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.14|10.14	1.267262|1.267262	0.23136|0.23136	.|.	.|.	ENSG00000137713|ENSG00000137713	ENST00000311129;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055|ENST00000531890	T;T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32;2.32|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.180423|.	0.51477|.	D|.	0.000087|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.20368|.	0.044;0.002;0.001;0.002;0.0;0.002|.	B;B;B;B;B;B|.	0.20184|.	0.028;0.013;0.005;0.004;0.002;0.004|.	T|T	0.54529|0.54529	-0.8280|-0.8280	10|5	0.26408|.	T|.	0.33|.	-10.2963|-10.2963	16.8052|16.8052	0.85625|0.85625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;547;431;528;592;592|.	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2|.	.;.;.;.;2AAB_HUMAN;.|.	K|K	592;528;592;431;547;465|220	ENSP00000311344:Q592K;ENSP00000410671:Q528K;ENSP00000437193:Q592K;ENSP00000415759:Q431K;ENSP00000343317:Q547K;ENSP00000376775:Q465K|.	ENSP00000311344:Q592K|.	Q|T	-|-	1|2	0|0	PPP2R1B|PPP2R1B	111118002|111118002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.059000|0.059000	0.15707|0.15707	9.021000|9.021000	0.93673|0.93673	2.580000|2.580000	0.87095|0.87095	0.484000|0.484000	0.47621|0.47621	CAG|ACA	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.388	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	protein_coding	OTTHUMT00000391298.1	G	NM_002716	-		111612792	-1	no_errors	ENST00000311129	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111612792	G	T	111612792	3	4	189	1	0	0	0	0	1	0	0	0	12388	1386	48	3	262	3	PPP2R1B	11	111612792	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	66495372	111612792	23393724	18	13002											
DIXDC1	85458	genome.wustl.edu	37	chr11	111857611	111857611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagattataatccaaagtcGtctggatcagagtatggagg	11	6	3	2	rs587612868		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr11:111857611G>T	ENST00000440460.2	+	10	1319	c.1022G>T	c.(1021-1023)cGt>cTt	p.R341L	DIXDC1_ENST00000315253.5_Missense_Mutation_p.R130L|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	342					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ATCCAAAGTCGTCTGGATCAG	0.413																																																	0								ENSG00000150764						98	92	94					11																	111857611		1893	4107	6000	DIXDC1	SO:0001583	missense	0			-	HGNC	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1022G>T	11.37:g.111857611G>T	ENSP00000394352:p.Arg341Leu	Somatic	0	24	0		0.586032912036718	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP							pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX	p.R341L	ENST00000440460.2	37	c.1022		11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503493	0.85176	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.29142	1.58;1.58	4.96	4.96	0.65561	.	0.048021	0.85682	D	0.000000	T	0.56108	0.1963	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.70935	0.971;0.871	T	0.58301	-0.7660	9	0.54805	T	0.06	-10.0021	17.3805	0.87403	0.0:0.0:1.0:0.0	.	130;342	E7EQ17;Q155Q3	.;DIXC1_HUMAN	L	341;130	ENSP00000394352:R341L;ENSP00000314068:R130L	ENSP00000314068:R130L	R	+	2	0	DIXDC1	111362821	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.392000	0.73213	2.595000	0.87683	0.655000	0.94253	CGT	-	NULL		0.413	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	DIXDC1	protein_coding		G	NM_001037954	-		111857611	1	no_errors	ENST00000440460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111857611	G	T	111857611	3	4	189	1	0	0	0	0	1	0	0	0	4543	1145	40	3	1085	3	DIXDC1	11	111857611	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	244819	111857611	23148905	19	13003											
ACTC1	70	genome.wustl.edu	37	chr15	35083451	35083451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatatcaatgtcacacttcAtgatgctattgtaagttgtt	8	6	3	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr15:35083451A>C	ENST00000290378.4	-	6	1509	c.854T>G	c.(853-855)aTg>aGg	p.M285R	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	285					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTCACACTTCATGATGCTATT	0.463																																																	0								ENSG00000159251						266	226	240					15																	35083451		2201	4298	6499	ACTC1	SO:0001583	missense	0			-	HGNC	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.854T>G	15.37:g.35083451A>C	ENSP00000290378:p.Met285Arg	Somatic	0	49	0		0.586032912036718	73	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	P04270	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.M285R	ENST00000290378.4	37	c.854	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461814	0.63513	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94280	-3.39	5.49	5.49	0.81192	.	0.000000	0.64402	U	0.000005	D	0.96291	0.8790	M	0.84082	2.675	0.80722	D	1	B	0.20368	0.044	P	0.46208	0.507	D	0.95523	0.8596	10	0.87932	D	0	.	15.8884	0.79273	1.0:0.0:0.0:0.0	.	285	P68032	ACTC_HUMAN	R	285;250	ENSP00000290378:M285R	ENSP00000290378:M285R	M	-	2	0	ACTC1	32870743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.209000	0.71365	0.533000	0.62120	ATG	-	pfam_Actin-related,smart_Actin-related		0.463	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	protein_coding	OTTHUMT00000251876.3	A	NM_005159	-		35083451	-1	no_errors	ENST00000290378	ensembl	human	known	74_37	missense	SNP	1.000	C	C	35083451	A	C	35083451	3	2	189	1	0	0	0	0	1	0	0	0	195	217	8	5	287	5	ACTC1	15	35083451	Missense_Mutation	SNP	A	TCGA-N1-A6IA-01A-12D-A32I-09		35083451	67447941	20	13004											
SPTBN5	51332	genome.wustl.edu	37	chr15	42153620	42153622	+	In_Frame_Del	DEL	TAG	TAG	-													tcctgctgggcacctacccaTagaccctcactggctaggga							TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	TAG	TAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr15:42153620_42153622delTAG	ENST00000320955.6	-	46	8037_8039	c.7810_7812delCTA	c.(7810-7812)ctadel	p.L2604del		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2604					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)			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)		CACCTACCCATAGACCCTCACTG	0.552																																																	0								ENSG00000137877																																			SPTBN5	SO:0001651	inframe_deletion	0				HGNC	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.7810_7812delCTA	15.37:g.42153620_42153622delTAG	ENSP00000317790:p.Leu2604del	Somatic	0	49	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	43	35.82		In_Frame_Del	DEL							pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L2604in_frame_del	ENST00000320955.6	37	c.7812_7810		15																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.552	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	protein_coding	OTTHUMT00000420237.1	TAG	NM_016642			42153622	-1	no_errors	ENST00000320955	ensembl	human	known	74_37	in_frame_del	DEL	0.010:0.006:0.003	-	-	42153622	TAG	-	42153620	7	5	189	1	0	1	0	1	0	0	0	0	15129	1393	49	0	3304	0	SPTBN5	15	42153620	In_Frame_Del	DEL	TAG	TCGA-N1-A6IA-01A-12D-A32I-09	7070169	42153620	60377772	21	13005											
RPL4	6124	genome.wustl.edu	37	chr15	66795818	66795818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaaagtgacatttttgccaGatgactcccccttttcggag	9	11	0	3			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr15:66795818G>A	ENST00000307961.6	-	2	145	c.53C>T	c.(52-54)tCt>tTt	p.S18F	ZWILCH_ENST00000307897.5_5'Flank|ZWILCH_ENST00000535141.2_5'Flank|RPL4_ENST00000568588.1_5'UTR|SNORD18A_ENST00000363753.1_RNA|RPL4_ENST00000564517.1_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|ZWILCH_ENST00000565627.1_5'Flank|SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000446801.2_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	18					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						ATTTTTGCCAGATGACTCCCC	0.428																																																	0								ENSG00000174444						59	55	56					15																	66795818		2201	4299	6500	RPL4	SO:0001583	missense	0			-	HGNC	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.53C>T	15.37:g.66795818G>A	ENSP00000311430:p.Ser18Phe	Somatic	0	30	0		0.586032912036718	2246	0.09	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP							pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.S18F	ENST00000307961.6	37	c.53	CCDS10218.1	15	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244157	0.79912	.	.	ENSG00000174444	ENST00000307961;ENST00000449253;ENST00000432669	.	.	.	4.51	4.51	0.55191	Ribosomal protein L4 domain (2);	0.160977	0.56097	D	0.000026	T	0.81083	0.4749	M	0.87547	2.89	0.80722	D	1	B;P	0.47910	0.231;0.902	B;P	0.54815	0.438;0.761	D	0.85229	0.1031	9	0.66056	D	0.02	-16.2514	17.4321	0.87542	0.0:0.0:1.0:0.0	.	18;18	B4DFI6;P36578	.;RL4_HUMAN	F	18	.	ENSP00000311430:S18F	S	-	2	0	RPL4	64582872	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	6.437000	0.73421	2.348000	0.79779	0.561000	0.74099	TCT	-	superfamily_Ribosomal_L4_dom		0.428	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	protein_coding	OTTHUMT00000256903.2	G	NM_000968	-		66795818	-1	no_errors	ENST00000307961	ensembl	human	known	74_37	missense	SNP	0.993	A	A	66795818	G	A	66795818	3	1	189	1	0	0	0	0	1	0	0	0	13603	942	33	2	1266	2	RPL4	15	66795818	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	24642198	66795818	35735574	22	13006											
MEFV	4210	genome.wustl.edu	37	chr16	3298968	3298968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccctgattttctcaGcttcttcagatgctccagct	5	16	3	2			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr16:3298968G>A	ENST00000219596.1	-	4	1336	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	MEFV_ENST00000339854.4_Silent_p.L253L|MEFV_ENST00000541159.1_Silent_p.L222L|MEFV_ENST00000536379.1_Silent_p.L222L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	433	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						GATTTTCTCAGCTTCTTCAGA	0.512																																																	0								ENSG00000103313						172	153	160					16																	3298968		2197	4300	6497	MEFV	SO:0001819	synonymous_variant	0			-	HGNC	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.1297C>T	16.37:g.3298968G>A		Somatic	0	25	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	10	50.00	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP							pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.L433	ENST00000219596.1	37	c.1297	CCDS10498.1	16																																																																																			-	NULL		0.512	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	G	NM_000243	-		3298968	-1	no_errors	ENST00000219596	ensembl	human	known	74_37	silent	SNP	0.000	A	A	3298968	G	A	3298968	2	1	189	1	0	0	0	0	0	0	0	1	9461	962	34	2		2	MEFV	16	3298968	Silent	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09		3298968	87055785	23	13007											
SPG7	6687	genome.wustl.edu	37	chr16	89590458	89590458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaccagatgtaccgagagCggctgcgcaccttgctggtc	13	13	0	2			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr16:89590458C>T	ENST00000268704.2	+	4	436	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	SPG7_ENST00000341316.2_Missense_Mutation_p.R141W	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	141					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTACCGAGAGCGGCTGCGCAC	0.582																																																	0								ENSG00000197912						61	54	56					16																	89590458		2198	4300	6498	SPG7	SO:0001583	missense	0			-	HGNC	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.421C>T	16.37:g.89590458C>T	ENSP00000268704:p.Arg141Trp	Somatic	0	54	0		0.586032912036718	43	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP							pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.R141W	ENST00000268704.2	37	c.421	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159312	0.78226	.	.	ENSG00000197912	ENST00000268704;ENST00000341316;ENST00000312632	D;D	0.94046	-3.15;-3.34	5.3	3.26	0.37387	Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.32530	0.975	0.58432	D	0.999999	D;P	0.89917	1.0;0.642	D;B	0.67548	0.952;0.117	D	0.92054	0.5651	10	0.38643	T	0.18	-2.4589	14.2385	0.65943	0.2803:0.7197:0.0:0.0	.	141;141	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	W	141;141;118	ENSP00000268704:R141W;ENSP00000341157:R141W	ENSP00000268704:R141W	R	+	1	2	SPG7	88117959	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	4.717000	0.61923	0.653000	0.30826	0.561000	0.74099	CGG	-	NULL		0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	protein_coding	OTTHUMT00000269921.2	C	NM_003119	-		89590458	1	no_errors	ENST00000268704	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89590458	C	T	89590458	3	4	189	1	0	0	0	0	1	0	0	0	15051	759	27	1	435	1	SPG7	16	89590458	Missense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09	86291490	89590458	764295	24	13008											
DPEP1	1800	genome.wustl.edu	37	chr16	89703959	89703959	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacctgtcccaagtggcCggtaggtggggtgtgagcgg	18	10	0	1	rs142226072		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr16:89703959C>T	ENST00000393092.3	+	8	1143	c.852C>T	c.(850-852)gcC>gcT	p.A284A	DPEP1_ENST00000421184.1_Splice_Site_p.A284A|DPEP1_ENST00000261615.4_Splice_Site_p.A284A	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	284					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCCAAGTGGCCGGTAGGTGGG	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		19402	0		0	False		,,,				2504	0																0								ENSG00000015413	C	,	4,4390	8.1+/-20.4	0,4,2193	75	85	82		852,852	-3.4	0.9	16	dbSNP_134	82	2,8590	2.2+/-6.3	0,2,4294	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	DPEP1	NM_001128141.1,NM_004413.3	,	0,6,6487	TT,TC,CC		0.0233,0.091,0.0462	,	284/412,284/412	89703959	6,12980	2197	4296	6493	DPEP1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.853+1C>T	16.37:g.89703959C>T		Somatic	0	32	0		0.586032912036718	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	D3DX80|Q96AK2	Silent	SNP							pfam_Peptidase_M19	p.A284	ENST00000393092.3	37	c.852	CCDS10982.1	16																																																																																			-	pfam_Peptidase_M19		0.567	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	protein_coding	OTTHUMT00000423058.1	C	NM_001128141	rs142226072	Silent	89703959	1	no_errors	ENST00000261615	ensembl	human	known	74_37	silent	SNP	0.955	T	T	89703959	C	T	89703959	5	4	189	1	0	0	0	0	0	0	1	0	4715	666	23	1	878	1	DPEP1	16	89703959	Splice_Site	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09	113501	89703959	650794	25	13009											
OR1E2	8388	genome.wustl.edu	37	chr17	3336989	3336989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgggagtccagtcgAatgaggacaatgatgaggag	17	4	0	4			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:3336989A>C	ENST00000248384.1	-	1	146	c.147T>G	c.(145-147)atT>atG	p.I49M		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	49					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)			endometrium(3)|large_intestine(3)|lung(3)	9						AGTCCAGTCGAATGAGGACAA	0.517																																																	0								ENSG00000127780						106	101	103					17																	3336989		2203	4300	6503	OR1E2	SO:0001583	missense	0			-	HGNC	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.147T>G	17.37:g.3336989A>C	ENSP00000248384:p.Ile49Met	Somatic	0	98	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	89	25	78.07	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I49M	ENST00000248384.1	37	c.147	CCDS11026.1	17	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624842	0.28889	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.08458	3.09	5.34	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.32315	0.0825	H	0.96015	3.755	0.20975	N	0.999811	D	0.76494	0.999	D	0.71184	0.972	T	0.26326	-1.0106	10	0.87932	D	0	.	3.3283	0.07075	0.4344:0.0:0.1653:0.4002	.	49	P47887	OR1E2_HUMAN	M	49;48	ENSP00000248384:I49M	ENSP00000248384:I49M	I	-	3	3	OR1E2	3283739	0.000000	0.05858	0.198000	0.23420	0.120000	0.20174	-0.088000	0.11198	0.136000	0.18733	0.473000	0.43528	ATT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E2	protein_coding	OTTHUMT00000207311.1	A		-		3336989	-1	no_errors	ENST00000248384	ensembl	human	known	74_37	missense	SNP	0.039	C	C	3336989	A	C	3336989	3	2	189	1	0	0	0	0	1	0	0	0	10957	242	9	5	827	5	OR1E2	17	3336989	Missense_Mutation	SNP	A	TCGA-N1-A6IA-01A-12D-A32I-09		3336989	77858221	26	13010											
TP53	7157	genome.wustl.edu	37	chr17	7578284	7578284	+	Frame_Shift_Del	DEL	C	C	-													gataagatgctgaggaggggCcagacctaagagcaatcagt							TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:7578284delC	ENST00000269305.4	-	6	754	c.565delG	c.(565-567)gccfs	p.A189fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.A189fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A189fs	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	189	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in a sporadic cancer; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in a familial cancer not matching 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.0?(8)|p.A189_V197delAPPQHLIRV(4)|p.A189T(3)|p.G187fs*16(2)|p.A189P(2)|p.A189fs*19(1)|p.D186_P191delDGLAPP(1)|p.?(1)|p.A189S(1)|p.A189fs*58(1)|p.G187fs*64(1)|p.L188_P191del(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)	TGAGGAGGGGCCAGACCTAAG	0.547		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	26	Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Deletion - Frameshift(4)|Complex - frameshift(1)|Unknown(1)	skin(4)|bone(4)|large_intestine(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)						ENSG00000141510						87	78	81					17																	7578284		2203	4300	6503	TP53	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;		HGNC	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.565delG	17.37:g.7578284delC	ENSP00000269305:p.Ala189fs	Somatic	0	78	0		0.586032912036718	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	18	76.62	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.A189fs	ENST00000269305.4	37	c.565	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546			7578284	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	7578284	C	-	7578284	7	5	189	1	0	1	0	1	0	0	0	0	16388	739	26	0	729	0	TP53	17	7578284	Frame_Shift_Del	DEL	C	TCGA-N1-A6IA-01A-12D-A32I-09	4241295	7578284	73616926	27	13011											
NTN1	9423	genome.wustl.edu	37	chr17	9083207	9083207	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaaggacggcgtgacgGgtatcacctgcaaccgctgc	13	14	1	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:9083207G>C	ENST00000173229.2	+	4	1398	c.1291G>C	c.(1291-1293)Ggt>Cgt	p.G431R	RP11-85B7.2_ENST00000574307.2_RNA|NTN1_ENST00000546090.1_Missense_Mutation_p.G431R|NTN1_ENST00000538852.1_Missense_Mutation_p.G431R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	431	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGGCGTGACGGGTATCACCTG	0.592																																																	0								ENSG00000065320						73	62	66					17																	9083207		2203	4300	6503	NTN1	SO:0001583	missense	0			-	HGNC	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1291G>C	17.37:g.9083207G>C	ENSP00000173229:p.Gly431Arg	Somatic	0	48	0		0.586032912036718	50	24.24	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	E9KL51	Missense_Mutation	SNP							pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.G431R	ENST00000173229.2	37	c.1291	CCDS11148.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.205698	0.95033	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.88	5.88	0.94601	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95370	0.8497	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95822	0.8850	10	0.62326	D	0.03	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	431	O95631	NET1_HUMAN	R	431;431;431;51	ENSP00000173229:G431R;ENSP00000443259:G431R;ENSP00000441611:G431R;ENSP00000389375:G51R	ENSP00000173229:G431R	G	+	1	0	NTN1	9023932	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.471000	0.97696	2.789000	0.95967	0.655000	0.94253	GGT	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.592	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN1	protein_coding	OTTHUMT00000252583.1	G		-		9083207	1	no_errors	ENST00000173229	ensembl	human	known	74_37	missense	SNP	1.000	C	C	9083207	G	C	9083207	3	2	189	1	0	0	0	0	1	0	0	0	10702	1232	43	4	1301	4	NTN1	17	9083207	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	1504923	9083207	72112003	28	13012											
MYO15A	51168	genome.wustl.edu	37	chr17	18082113	18082113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcgtgtggtggccgtgCacgtggagaacctgctcagt	16	9	1	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr17:18082113C>T	ENST00000205890.5	+	66	10860	c.10522C>T	c.(10522-10524)Cac>Tac	p.H3508Y	RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000451725.2_3'UTR|MYO15A_ENST00000418233.3_Missense_Mutation_p.A789V|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3508	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTGGCCGTGCACGTGGAGAA	0.612																																																	0								ENSG00000091536						127	142	137					17																	18082113		2150	4267	6417	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10522C>T	17.37:g.18082113C>T	ENSP00000205890:p.His3508Tyr	Somatic	0	38	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	53	24.29	B4DFC7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.H3508Y	ENST00000205890.5	37	c.10522	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462998	0.63513	.	.	ENSG00000091536	ENST00000205890	D	0.86769	-2.17	5.58	5.58	0.84498	FERM domain (1);	.	.	.	.	D	0.88138	0.6356	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.83355	-0.0001	9	0.10111	T	0.7	.	19.1853	0.93641	0.0:1.0:0.0:0.0	.	3508	Q9UKN7	MYO15_HUMAN	Y	3508	ENSP00000205890:H3508Y	ENSP00000205890:H3508Y	H	+	1	0	MYO15A	18022838	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	7.600000	0.82769	2.637000	0.89404	0.555000	0.69702	CAC	-	pfscan_FERM_domain		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	C	NM_016239	-		18082113	1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18082113	C	T	18082113	3	4	189	1	0	0	0	0	1	0	0	0	10065	710	25	2	10776	2	MYO15A	17	18082113	Missense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09	8998906	18082113	63113097	29	13013											
C18orf34	374864	genome.wustl.edu	37	chr18	30517983	30517983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggttgtttgcttaaccatCgttttcgcatgtgccatctg	9	9	1	0	rs200567065		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr18:30517983C>T	ENST00000383096.3	-	23	2778	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	CCDC178_ENST00000581852.1_Missense_Mutation_p.D71N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D890N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D866N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D828N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D890N|CCDC178_ENST00000402325.1_Missense_Mutation_p.D816N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000579916.1_Missense_Mutation_p.D186N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	866																	GCTTAACCATCGTTTTCGCAT	0.368													C|||	1	0.000199681	0	0.0014	5008	,	,		21455	0		0	False		,,,				2504	0																0								ENSG00000166960						179	160	166					18																	30517983		2203	4300	6503	CCDC178	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2596G>A	18.37:g.30517983C>T	ENSP00000372576:p.Asp866Asn	Somatic	0	48	0		0.586032912036718	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP							NULL	p.D890N	ENST00000383096.3	37	c.2668	CCDS42424.1	18	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.907	1.208464	0.22205	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.17054	2.31;2.31;2.35;2.3;2.32	5.72	4.84	0.62591	.	.	.	.	.	T	0.29288	0.0729	N	0.24115	0.695	0.26142	N	0.980267	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;B;D;D;D	0.77557	0.966;0.434;0.99;0.966;0.966	T	0.10730	-1.0617	9	0.87932	D	0	0.0028	14.9957	0.71431	0.0:0.9308:0.0:0.0692	.	890;866;816;828;866	F8W7A7;A1L4G8;Q5BJE1-3;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	N	866;866;828;890;816	ENSP00000385591:D866N;ENSP00000372576:D866N;ENSP00000300227:D828N;ENSP00000385867:D890N;ENSP00000385234:D816N	ENSP00000300227:D828N	D	-	1	0	C18orf34	28771981	0.786000	0.28738	0.961000	0.40146	0.546000	0.35178	1.460000	0.35244	2.696000	0.92011	0.650000	0.86243	GAT	-	NULL		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	C	NM_198995	rs200567065		30517983	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.943	T	T	30517983	C	T	30517983	3	4	189	1	0	0	0	0	1	0	0	0	1904	884	31	1	11	1	C18orf34	18	30517983	Missense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09		30517983	47559265	30	13014											
CHAF1A	10036	genome.wustl.edu	37	chr19	4433417	4433417	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgccctcggcccccaaagagGacagtggcagcgtcccctcc	11	18	0	1	rs577677696		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:4433417G>C	ENST00000301280.5	+	13	2655	c.2554G>C	c.(2554-2556)Gac>Cac	p.D852H	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	852	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAAAGAGGACAGTGGCAG	0.632								Chromatin Structure																																									0								ENSG00000167670						46	46	46					19																	4433417		2203	4300	6503	CHAF1A	SO:0001583	missense	0			-	HGNC	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2554G>C	19.37:g.4433417G>C	ENSP00000301280:p.Asp852His	Somatic	0	44	0		0.586032912036718	81	44.52	65	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP							pfam_CAF1A	p.D852H	ENST00000301280.5	37	c.2554	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254138	0.59212	.	.	ENSG00000167670	ENST00000301280	T	0.34667	1.35	5.62	5.62	0.85841	.	.	.	.	.	T	0.56819	0.2011	M	0.61703	1.905	0.51482	D	0.999928	D	0.69078	0.997	D	0.64042	0.921	T	0.52351	-0.8587	8	.	.	.	-44.3575	18.6935	0.91592	0.0:0.0:1.0:0.0	.	852	Q13111	CAF1A_HUMAN	H	852	ENSP00000301280:D852H	.	D	+	1	0	CHAF1A	4384417	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	9.319000	0.96338	2.653000	0.90120	0.650000	0.86243	GAC	-	NULL		0.632	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	protein_coding	OTTHUMT00000458310.2	G	NM_005483	-		4433417	1	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	SNP	1.000	C	C	4433417	G	C	4433417	3	2	189	1	0	0	0	0	1	0	0	0	3313	1174	41	4	2604	4	CHAF1A	19	4433417	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09		4433417	54695566	31	13015											
DAND5	199699	genome.wustl.edu	37	chr19	13084213	13084213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggccccaggtgttctcccGgcccggctgctcagccatac	11	19	2	0	rs576727348		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:13084213G>C	ENST00000317060.2	+	2	514	c.335G>C	c.(334-336)cGg>cCg	p.R112P	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	112	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)	p.R112L(1)		kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTGTTCTCCCGGCCCGGCTGC	0.622																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000179284						84	83	84					19																	13084213		2203	4300	6503	DAND5	SO:0001583	missense	0			-	HGNC	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"DAN domain family, member 5"			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.335G>C	19.37:g.13084213G>C	ENSP00000323155:p.Arg112Pro	Somatic	0	22	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22		Missense_Mutation	SNP							pfam_DAN,pirsf_Cerberus	p.R112P	ENST00000317060.2	37	c.335	CCDS12291.1	19	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575109	0.28092	.	.	ENSG00000179284	ENST00000317060	T	0.30714	1.52	5.94	1.33	0.21861	DAN (1);	0.739627	0.11567	N	0.551209	T	0.40423	0.1116	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.64776	0.929	T	0.17501	-1.0367	10	0.37606	T	0.19	-11.0784	4.4983	0.11851	0.2523:0.0:0.5956:0.1521	.	112	Q8N907	DAND5_HUMAN	P	112	ENSP00000323155:R112P	ENSP00000323155:R112P	R	+	2	0	DAND5	12945213	0.047000	0.20315	0.000000	0.03702	0.136000	0.21042	0.414000	0.21164	0.091000	0.17302	0.655000	0.94253	CGG	-	pfam_DAN,pirsf_Cerberus		0.622	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DAND5	protein_coding	OTTHUMT00000452761.1	G	NM_152654	-		13084213	1	no_errors	ENST00000317060	ensembl	human	known	74_37	missense	SNP	0.009	C	C	13084213	G	C	13084213	3	2	189	1	0	0	0	0	1	0	0	0	4232	1116	39	4	341	4	DAND5	19	13084213	Missense_Mutation	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	8650796	13084213	46044770	32	13016											
OR7A17	26333	genome.wustl.edu	37	chr19	14992099	14992099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccaaagaggaagggctgCaattctggttcctcagaaag	12	9	2	2			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:14992099C>A	ENST00000327462.2	-	1	165	c.69G>T	c.(67-69)ttG>ttT	p.L23F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	23						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)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GGAAGGGCTGCAATTCTGGTT	0.428																																																	0								ENSG00000185385						40	35	36					19																	14992099		2203	4300	6503	OR7A17	SO:0001583	missense	0			-	HGNC	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.69G>T	19.37:g.14992099C>A	ENSP00000328144:p.Leu23Phe	Somatic	0	70	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	18	82.35	Q6IFQ6|Q96R98	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23F	ENST00000327462.2	37	c.69	CCDS12319.1	19	.	.	.	.	.	.	.	.	.	.	c	10.20	1.284405	0.23392	.	.	ENSG00000185385	ENST00000327462	T	0.03330	3.97	2.73	-0.874	0.10631	.	2.440800	0.03848	U	0.271810	T	0.09379	0.0231	M	0.82056	2.57	0.09310	N	1	B	0.33198	0.401	B	0.43018	0.405	T	0.40869	-0.9540	10	0.66056	D	0.02	.	0.5709	0.00695	0.196:0.3672:0.1924:0.2444	.	23	O14581	OR7AH_HUMAN	F	23	ENSP00000328144:L23F	ENSP00000328144:L23F	L	-	3	2	OR7A17	14853099	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-1.145000	0.03194	-0.051000	0.13334	0.388000	0.25769	TTG	-	NULL		0.428	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	protein_coding	OTTHUMT00000466523.1	C	NM_030901	-		14992099	-1	no_errors	ENST00000327462	ensembl	human	known	74_37	missense	SNP	0.184	A	A	14992099	C	A	14992099	3	1	189	1	0	0	0	0	1	0	0	0	11217	709	25	3	862	3	OR7A17	19	14992099	Missense_Mutation	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09	1907886	14992099	44136884	33	13017											
CHERP	10523	genome.wustl.edu	37	chr19	16643459	16643459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggtgcagccgcagctcGaagtgtgccccatcagccgt	13	13	1	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:16643459G>A	ENST00000198939.6	-	5	660	c.624C>T	c.(622-624)ttC>ttT	p.F208F	CHERP_ENST00000546361.2_Silent_p.F208F|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCCGCAGCTCGAAGTGTGCCC	0.647																																																	0								ENSG00000085872						54	64	61					19																	16643459		2175	4275	6450	CHERP	SO:0001819	synonymous_variant	0			-	HGNC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.624C>T	19.37:g.16643459G>A		Somatic	0	130	0		0.586032912036718	7	91.36	74	WXS	Illumina HiSeq 2500	Phase_IV	tier1	161	37	80.90		Silent	SNP							pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.F208	ENST00000198939.6	37	c.624		19																																																																																			-	superfamily_ENTH_VHS		0.647	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	protein_coding	OTTHUMT00000403372.1	G	NM_006387	-		16643459	-1	no_errors	ENST00000546361	ensembl	human	known	74_37	silent	SNP	0.700	A	A	16643459	G	A	16643459	2	1	189	1	0	0	0	0	0	0	0	1	3338	1049	37	1		1	CHERP	19	16643459	Silent	SNP	G	TCGA-N1-A6IA-01A-12D-A32I-09	1651360	16643459	42485524	34	13018											
B3GNT3	10331	genome.wustl.edu	37	chr19	17918638	17918638	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtatctccggcaccggCggcccaatgccaccctcatt	9	16	2	1	rs202205669		TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr19:17918638C>A	ENST00000318683.6	+	2	169	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	B3GNT3_ENST00000595387.1_Silent_p.R8R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	8					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCGGCACCGGCGGCCCAATGC	0.622																																																	0								ENSG00000179913						27	28	27					19																	17918638		2200	4293	6493	B3GNT3	SO:0001819	synonymous_variant	0			-	HGNC	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.22C>A	19.37:g.17918638C>A		Somatic	0	66	0		0.586032912036718	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	80	13.04	B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP							pfam_Glyco_trans_31	p.R8	ENST00000318683.6	37	c.22	CCDS12364.1	19																																																																																			-	NULL		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	protein_coding	OTTHUMT00000466877.1	C	NM_014256	-		17918638	1	no_errors	ENST00000318683	ensembl	human	known	74_37	silent	SNP	0.001	A	A	17918638	C	A	17918638	2	1	189	1	0	0	0	0	0	0	0	1	1258	759	27	3		3	B3GNT3	19	17918638	Silent	SNP	C	TCGA-N1-A6IA-01A-12D-A32I-09	1275179	17918638	41210345	35	13019											
ZNF831	128611	genome.wustl.edu	37	chr20	57829601	57829601	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctttaggaagtgacggtAggaaacgtcaggtatctgga	13	7	3	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chr20:57829601A>T	ENST00000371030.2	+	5	4837	c.4837A>T	c.(4837-4839)Agg>Tgg	p.R1613W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1613							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGTGACGGTAGGAAACGTCA	0.493																																																	0								ENSG00000124203						83	80	81					20																	57829601		1882	4126	6008	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4837A>T	20.37:g.57829601A>T	ENSP00000360069:p.Arg1613Trp	Somatic	0	19	0		0.586032912036718	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1613W	ENST00000371030.2	37	c.4837	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377802	0.42105	.	.	ENSG00000124203	ENST00000371030	T	0.04970	3.52	5.66	3.6	0.41247	.	0.690849	0.13151	N	0.409858	T	0.09555	0.0235	L	0.40543	1.245	0.09310	N	1	D	0.56287	0.975	P	0.49192	0.602	T	0.18777	-1.0326	10	0.66056	D	0.02	-6.0237	9.0462	0.36347	0.1734:0.0:0.8266:0.0	.	1613	Q5JPB2	ZN831_HUMAN	W	1613	ENSP00000360069:R1613W	ENSP00000360069:R1613W	R	+	1	2	ZNF831	57262996	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.274000	0.18680	0.720000	0.32209	-0.182000	0.12963	AGG	-	NULL		0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	A	NM_178457	-		57829601	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.005	T	T	57829601	A	T	57829601	3	4	189	1	0	0	0	0	1	0	0	0	18192	411	15	5	4855	5	ZNF831	20	57829601	Missense_Mutation	SNP	A	TCGA-N1-A6IA-01A-12D-A32I-09		57829601	5195919	36	13020											
UXT	8409	genome.wustl.edu	37	chrX	47511493	47511493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctctagcaacatgTggatatgggctttgatattc	8	10	2	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chrX:47511493T>G	ENST00000333119.3	-	6	462	c.407A>C	c.(406-408)cAc>cCc	p.H136P	UXT_ENST00000335890.2_Missense_Mutation_p.H148P|UXT_ENST00000460840.1_5'UTR|ELK1_ENST00000343894.4_5'Flank|ELK1_ENST00000247161.3_5'Flank|ELK1_ENST00000468956.1_5'Flank|ELK1_ENST00000376983.3_5'Flank|ELK1_ENST00000592066.1_5'Flank	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	136					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TAGCAACATGTGGATATGGGC	0.483																																																	0								ENSG00000126756						121	95	104					X																	47511493		2203	4300	6503	UXT	SO:0001583	missense	0			-	HGNC	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.407A>C	X.37:g.47511493T>G	ENSP00000327797:p.His136Pro	Somatic	0	73	0		0.586032912036718	652	0.46	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	53	44.79	B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP							pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT	p.H148P	ENST00000333119.3	37	c.443	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	-	16.37	3.104620	0.56291	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.42513	0.97;0.97	5.43	4.3	0.51218	Prefoldin (1);Prefoldin subunit (1);	0.139088	0.48767	D	0.000170	T	0.24236	0.0587	N	0.14661	0.345	0.31651	N	0.646846	P	0.46784	0.884	B	0.42959	0.403	T	0.26326	-1.0106	10	0.59425	D	0.04	-12.3737	4.0931	0.09978	0.0:0.1949:0.0:0.8051	.	136	Q9UBK9	UXT_HUMAN	P	136;148	ENSP00000327797:H136P;ENSP00000337393:H148P	ENSP00000327797:H136P	H	-	2	0	UXT	47396437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.819000	0.53055	0.483000	0.47432	CAC	-	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT		0.483	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	protein_coding	OTTHUMT00000056440.1	T	NM_153477	-		47511493	-1	no_errors	ENST00000335890	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47511493	T	G	47511493	3	3	189	1	0	0	0	0	1	0	0	0	17117	1696	59	5	74	5	UXT	23	47511493	Missense_Mutation	SNP	T	TCGA-N1-A6IA-01A-12D-A32I-09		47511493	107759067	37	13021											
PLXNB3	5365	genome.wustl.edu	37	chrX	153044436	153044436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggccagaagctgcagcTggcctgccgcctgcagcagg	16	13	0	1			TCGA-N1-A6IA-01A-12D-A32I-09	TCGA-N1-A6IA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26f94549-f63a-4c0f-8c70-0341ea0f528f	29f71321-1ce9-42d2-8923-7528a4bff739	g.chrX:153044436T>A	ENST00000361971.5	+	36	5786	c.5672T>A	c.(5671-5673)cTg>cAg	p.L1891Q	PLXNB3_ENST00000538966.1_Missense_Mutation_p.L1914Q|SRPK3_ENST00000370104.1_5'Flank|SRPK3_ENST00000370100.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1544Q|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000393786.3_5'Flank|SRPK3_ENST00000489426.1_5'UTR|SRPK3_ENST00000370108.3_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1891					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTGCAGCTGGCCTGCCGC	0.657																																																	0								ENSG00000198753						17	15	16					X																	153044436		2191	4283	6474	PLXNB3	SO:0001583	missense	0			-	HGNC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5672T>A	X.37:g.153044436T>A	ENSP00000355378:p.Leu1891Gln	Somatic	0	74	0		0.586032912036718	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	52	39.53	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1914Q	ENST00000361971.5	37	c.5741	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536319	0.85812	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.03386	4.52;4.5;3.95	4.77	4.77	0.60923	.	0.081973	0.49916	D	0.000129	T	0.22244	0.0536	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.992	T	0.02581	-1.1138	10	0.87932	D	0	.	12.5861	0.56419	0.0:0.0:0.0:1.0	.	1544;1914;1891	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	Q	1914;1891;1544	ENSP00000442736:L1914Q;ENSP00000355378:L1891Q;ENSP00000445569:L1544Q	ENSP00000355378:L1891Q	L	+	2	0	PLXNB3	152697630	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.957000	0.87870	1.678000	0.50952	0.340000	0.21749	CTG	-	NULL		0.657	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	protein_coding	OTTHUMT00000061063.1	T		-		153044436	1	no_errors	ENST00000538966	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153044436	T	A	153044436	3	1	189	1	0	0	0	0	1	0	0	0	12127	1580	55	5	5928	5	PLXNB3	23	153044436	Missense_Mutation	SNP	T	TCGA-N1-A6IA-01A-12D-A32I-09	105532943	153044436	2226124	38	13022											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12921627	12921627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactggagctccatctttGctgctagggaaggcgtgccc	14	11	1	0			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:12921627G>A	ENST00000240189.2	+	4	1505	c.1418G>A	c.(1417-1419)tGc>tAc	p.C473Y		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	473					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)		CTCCATCTTTGCTGCTAGGGA	0.517																																																	0								ENSG00000120952						13	16	15					1																	12921627		2008	4108	6116	PRAMEF2	SO:0001583	missense	0			-	HGNC		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.1418G>A	1.37:g.12921627G>A	ENSP00000240189:p.Cys473Tyr	Somatic	0	229	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	114	14.93		Missense_Mutation	SNP							NULL	p.C473Y	ENST00000240189.2	37	c.1418	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930939	0.18131	.	.	ENSG00000120952	ENST00000240189	T	0.03124	4.04	0.558	0.558	0.17266	.	1.432400	0.04998	N	0.468627	T	0.17023	0.0409	M	0.78456	2.415	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14172	-1.0482	9	0.44086	T	0.13	.	.	.	.	.	473	O60811	PRAM2_HUMAN	Y	473	ENSP00000240189:C473Y	ENSP00000240189:C473Y	C	+	2	0	PRAMEF2	12844214	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	-0.054000	0.11826	0.552000	0.29026	0.173000	0.16961	TGC	-	NULL		0.517	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	G	NM_023014	-		12921627	1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	SNP	0.005	A	A	12921627	G	A	12921627	3	1	190	1	0	0	0	0	1	0	0	0	12440	1319	46	2	1428	2	PRAMEF2	1	12921627	Missense_Mutation	SNP	G	TCGA-PC-A5DK-01A-11D-A27P-09		12921627	236328994	1	13023											
ZMYND12	84217	genome.wustl.edu	37	chr1	42914153	42914153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaaggctggcctcggCcaacagcaggtaagcaggca	12	14	1	0			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:42914153C>A	ENST00000372565.3	-	3	678	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	137						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGGCCTCGGCCAACAGCAGG	0.527																																																	0								ENSG00000066185						62	57	59					1																	42914153		2203	4300	6503	ZMYND12	SO:0001583	missense	0			-	HGNC	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.409G>T	1.37:g.42914153C>A	ENSP00000361646:p.Ala137Ser	Somatic	0	45	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	24	59.32	Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP							pfam_Znf_MYND,pfscan_Znf_MYND	p.A137S	ENST00000372565.3	37	c.409	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352517	0.41700	.	.	ENSG00000066185	ENST00000372565	T	0.71461	-0.57	5.34	-1.03	0.10102	Tetratricopeptide-like helical (1);	0.164898	0.52532	N	0.000065	T	0.56202	0.1969	L	0.39085	1.19	0.50467	D	0.999874	B	0.18461	0.028	B	0.15052	0.012	T	0.49643	-0.8918	10	0.59425	D	0.04	-2.3795	10.6475	0.45628	0.4562:0.4396:0.1041:0.0	.	137	Q9H0C1	ZMY12_HUMAN	S	137	ENSP00000361646:A137S	ENSP00000361646:A137S	A	-	1	0	ZMYND12	42686740	0.998000	0.40836	0.814000	0.32528	0.946000	0.59487	0.980000	0.29513	-0.036000	0.13669	0.561000	0.74099	GCC	-	NULL		0.527	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	protein_coding	OTTHUMT00000019170.1	C	NM_032257	-		42914153	-1	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	SNP	0.338	A	A	42914153	C	A	42914153	3	1	190	1	0	0	0	0	1	0	0	0	17714	739	26	3	712	3	ZMYND12	1	42914153	Missense_Mutation	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09	29992526	42914153	206336468	2	13024											
ROCK2	9475	genome.wustl.edu	37	chr2	11364484	11364484	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagatgagattctttgcaTgtttggaaatttctgcatct	8	7	3	2			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr2:11364484T>A	ENST00000315872.6	-	7	1419	c.971A>T	c.(970-972)cAt>cTt	p.H324L	ROCK2_ENST00000401753.1_Missense_Mutation_p.H81L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATTCTTTGCATGTTTGGAAAT	0.318																																																	0								ENSG00000134318						128	119	122					2																	11364484		1830	4082	5912	ROCK2	SO:0001583	missense	0			-	HGNC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.971A>T	2.37:g.11364484T>A	ENSP00000317985:p.His324Leu	Somatic	0	72	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	78	12.36	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.H324L	ENST00000315872.6	37	c.971	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218801	0.58560	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.64260	-0.09;-0.09;-0.09	5.71	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178204	0.51477	D	0.000091	T	0.38983	0.1061	N	0.02202	-0.64	0.42692	D	0.993588	B	0.27971	0.196	B	0.32533	0.147	T	0.32955	-0.9887	10	0.38643	T	0.18	.	12.8476	0.57839	0.0:0.0:0.1363:0.8637	.	324	O75116	ROCK2_HUMAN	L	324;81;151	ENSP00000317985:H324L;ENSP00000385509:H81L;ENSP00000395957:H151L	ENSP00000261535:H324L	H	-	2	0	ROCK2	11281935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.271000	0.72569	0.940000	0.37473	0.402000	0.26972	CAT	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom		0.318	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	protein_coding	OTTHUMT00000313886.3	T		-		11364484	-1	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11364484	T	A	11364484	3	1	190	1	0	0	0	0	1	0	0	0	13526	1464	51	5	3303	5	ROCK2	2	11364484	Missense_Mutation	SNP	T	TCGA-PC-A5DK-01A-11D-A27P-09		11364484	231834889	3	13025											
VIPR1	7433	genome.wustl.edu	37	chr3	42573777	42573777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcatccgaatcctgcttcAgaaactgcggcccccagata	7	15	2	2			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr3:42573777A>T	ENST00000325123.4	+	10	1075	c.962A>T	c.(961-963)cAg>cTg	p.Q321L	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.Q280L|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.Q273L|VIPR1_ENST00000438259.2_Missense_Mutation_p.Q111L|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	321					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)			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)		ATCCTGCTTCAGAAACTGCGG	0.562																																																	0								ENSG00000114812						152	141	145					3																	42573777		2203	4300	6503	VIPR1	SO:0001583	missense	0			-	HGNC	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.962A>T	3.37:g.42573777A>T	ENSP00000327246:p.Gln321Leu	Somatic	0	31	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.Q321L	ENST00000325123.4	37	c.962	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	A	27.9	4.869302	0.91587	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.61	4.61	0.57282	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.997;1.0	D;D;D;D	0.91635	0.999;0.997;0.993;0.999	T	0.57556	-0.7791	10	0.87932	D	0	.	14.0142	0.64515	1.0:0.0:0.0:0.0	.	294;111;273;321	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	L	280;273;111;321	ENSP00000394950:Q280L;ENSP00000445701:Q273L;ENSP00000415371:Q111L;ENSP00000327246:Q321L	ENSP00000327246:Q321L	Q	+	2	0	VIPR1	42548781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.715000	0.51383	0.533000	0.62120	CAG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	protein_coding	OTTHUMT00000254728.4	A	NM_004624	-		42573777	1	no_errors	ENST00000325123	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42573777	A	T	42573777	3	4	190	1	0	0	0	0	1	0	0	0	17176	188	7	5	1000	5	VIPR1	3	42573777	Missense_Mutation	SNP	A	TCGA-PC-A5DK-01A-11D-A27P-09		42573777	155448653	4	13026											
MME	4311	genome.wustl.edu	37	chr3	154859841	154859841	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatattagtattacaaAtgaggaagatgtggttgttt	11	1	0	3			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr3:154859841A>T	ENST00000460393.1	+	11	1139	c.1019A>T	c.(1018-1020)aAt>aTt	p.N340I	MME_ENST00000492661.1_Missense_Mutation_p.N340I|MME_ENST00000493237.1_Missense_Mutation_p.N340I|MME_ENST00000360490.2_Missense_Mutation_p.N340I|MME_ENST00000462745.1_Missense_Mutation_p.N340I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	340					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGTATTACAAATGAGGAAGAT	0.373																																																	0								ENSG00000196549						112	116	114					3																	154859841		2203	4300	6503	MME	SO:0001583	missense	0			-	HGNC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1019A>T	3.37:g.154859841A>T	ENSP00000418525:p.Asn340Ile	Somatic	0	67	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	44	45.68	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.N340I	ENST00000460393.1	37	c.1019	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	A	9.407	1.079467	0.20227	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	6.02	3.66	0.41972	Peptidase M13 (1);	0.387744	0.32640	N	0.005822	T	0.60805	0.2297	L	0.38175	1.15	0.34143	D	0.666597	B	0.11235	0.004	B	0.14023	0.01	T	0.59653	-0.7414	10	0.38643	T	0.18	-16.9933	6.311	0.21164	0.7308:0.1336:0.1355:0.0	.	340	P08473	NEP_HUMAN	I	340	ENSP00000420389:N340I;ENSP00000418525:N340I;ENSP00000419653:N340I;ENSP00000417079:N340I;ENSP00000353679:N340I	ENSP00000353679:N340I	N	+	2	0	MME	156342535	1.000000	0.71417	0.953000	0.39169	0.986000	0.74619	4.814000	0.62627	0.529000	0.28599	0.482000	0.46254	AAT	-	pfam_Peptidase_M13_N		0.373	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	protein_coding	OTTHUMT00000351076.1	A	NM_000902	-		154859841	1	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	SNP	0.985	T	T	154859841	A	T	154859841	3	4	190	1	0	0	0	0	1	0	0	0	9647	101	4	5	1057	5	MME	3	154859841	Missense_Mutation	SNP	A	TCGA-PC-A5DK-01A-11D-A27P-09	112286064	154859841	43162589	5	13027											
CENPE	1062	genome.wustl.edu	37	chr4	104080391	104080391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccaatttcttcaagtaaacCttgaactctactctccttat	2	13	4	1	rs376748245		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr4:104080391C>G	ENST00000265148.3	-	22	2466	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	CENPE_ENST00000380026.3_Missense_Mutation_p.G768R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	793					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCAAGTAAACCTTGAACTCTA	0.318																																																	0								ENSG00000138778						104	105	105					4																	104080391		2202	4297	6499	CENPE	SO:0001583	missense	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2377G>C	4.37:g.104080391C>G	ENSP00000265148:p.Gly793Arg	Somatic	0	62	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G793R	ENST00000265148.3	37	c.2377	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	c	8.524	0.869503	0.17322	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.66280	-0.2;-0.19;0.22	4.88	1.26	0.21427	.	.	.	.	.	T	0.44244	0.1284	L	0.34521	1.04	0.09310	N	1	P;P	0.49961	0.703;0.93	B;B	0.42692	0.395;0.216	T	0.24764	-1.0151	9	0.21540	T	0.41	.	2.7542	0.05288	0.1142:0.5038:0.1112:0.2707	.	768;793	Q02224-3;Q02224	.;CENPE_HUMAN	R	793;793;768;793	ENSP00000265148:G793R;ENSP00000369365:G768R;ENSP00000423981:G793R	ENSP00000265148:G793R	G	-	1	0	CENPE	104299840	0.047000	0.20315	0.991000	0.47740	0.558000	0.35554	0.284000	0.18864	-0.012000	0.14223	-0.745000	0.03516	GGT	-	NULL		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		C		-		104080391	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	SNP	0.181	G	G	104080391	C	G	104080391	3	3	190	1	0	0	0	0	1	0	0	0	3232	681	24	4	5840	4	CENPE	4	104080391	Missense_Mutation	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09		104080391	87073885	6	13028											
ANXA6	309	genome.wustl.edu	37	chr5	150488015	150488015	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttagtccctgccagttaCcaatggccacaaatgcatcc	6	16	0	0			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr5:150488015C>T	ENST00000354546.5	-	23	2008		c.e23+1		ANXA6_ENST00000377751.5_Splice_Site|ANXA6_ENST00000523714.1_Splice_Site|ANXA6_ENST00000356496.5_Splice_Site|ANXA6_ENST00000521512.1_Splice_Site	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6						calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCAGTTACCAATGGCCAC	0.512																																																	0								ENSG00000197043						179	180	180					5																	150488015		2029	4181	6210	ANXA6	SO:0001630	splice_region_variant	0			-	HGNC	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1780+1G>A	5.37:g.150488015C>T		Somatic	0	49	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Splice_Site	SNP							-	e22+1	ENST00000354546.5	37	c.1780+1	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491102	0.84962	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA6	150468208	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.425000	0.73370	2.630000	0.89119	0.655000	0.94253	.	-	-		0.512	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	protein_coding	OTTHUMT00000377668.2	C	NM_001155	-	Intron	150488015	-1	no_errors	ENST00000354546	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	150488015	C	T	150488015	5	4	190	1	0	0	0	0	0	0	1	0	722	521	18	2	256	2	ANXA6	5	150488015	Splice_Site	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09		150488015	30427245	7	13029											
CCDC28A	25901	genome.wustl.edu	37	chr6	139101104	139101104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaatgatttccactctGgaaaacttcaagcatttggt	7	7	2	2			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr6:139101104G>A	ENST00000332797.6	+	3	729	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	192										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TTTCCACTCTGGAAAACTTCA	0.403																																																	0								ENSG00000024862						90	88	89					6																	139101104		2203	4300	6503	CCDC28A	SO:0001583	missense	0			-	HGNC	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.574G>A	6.37:g.139101104G>A	ENSP00000332716:p.Gly192Arg	Somatic	0	80	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	60	43.40	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP							NULL	p.G192R	ENST00000332797.6	37	c.574	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865730	0.91511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.76578	-1.03	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87830	0.2644	10	0.87932	D	0	-24.0377	20.4116	0.99017	0.0:0.0:1.0:0.0	.	192	Q8IWP9	CC28A_HUMAN	R	192;79	ENSP00000332716:G192R	ENSP00000026464:G79R	G	+	1	0	CCDC28A	139142797	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.415000	0.97375	2.827000	0.97445	0.655000	0.94253	GGA	-	NULL		0.403	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	protein_coding	OTTHUMT00000042444.1	G	NM_015439	-		139101104	1	no_errors	ENST00000332797	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139101104	G	A	139101104	3	1	190	1	0	0	0	0	1	0	0	0	2804	1349	47	2	584	2	CCDC28A	6	139101104	Missense_Mutation	SNP	G	TCGA-PC-A5DK-01A-11D-A27P-09		139101104	32013963	8	13030											
MAP3K11	399909	genome.wustl.edu	37	chr11	65381016	65381016	+	5'Flank	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatggctgcgtcccgggacAgcacctccacacggtcaccc	11	17	1	1			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:65381016A>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.L71Q|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTCCCGGGACAGCACCTCCAC	0.667																																																	0								ENSG00000173327						57	47	50					11																	65381016		2201	4297	6498	MAP3K11	SO:0001631	upstream_gene_variant	0			-	HGNC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65381016A>T	Exception_encountered	Somatic	0	53	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q6MZN8	Missense_Mutation	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.L71Q	ENST00000355703.3	37	c.212	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514775	0.85389	.	.	ENSG00000173327	ENST00000309100	T	0.40225	1.04	4.83	4.83	0.62350	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.56097	D	0.000027	T	0.63212	0.2492	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67753	-0.5589	10	0.87932	D	0	.	12.3509	0.55146	1.0:0.0:0.0:0.0	.	71	Q16584	M3K11_HUMAN	Q	71	ENSP00000309597:L71Q	ENSP00000309597:L71Q	L	-	2	0	MAP3K11	65137592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	1.813000	0.52934	0.533000	0.62120	CTG	-	pirsf_MAPKKK9/10/11,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain		0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	protein_coding	OTTHUMT00000390321.1	A	NM_032223	-		65381016	-1	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65381016	A	T	65381016	1	4	190	0	1	0	0	0	0	0	0	0	9247	188	7	5		5	MAP3K11	11	65381016	5'Flank	SNP	A	TCGA-PC-A5DK-01A-11D-A27P-09		65381016	69625500	9	13031											
P2RY2	5029	genome.wustl.edu	37	chr11	72946213	72946213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggctcgccgcaggctgGgcctgcgcagatccgacaga	14	17	0	2			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:72946213G>A	ENST00000311131.2	+	3	1476	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	P2RY2_ENST00000393597.2_Missense_Mutation_p.G337S|P2RY2_ENST00000393596.2_Missense_Mutation_p.G337S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	337					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)			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)	CCGCAGGCTGGGCCTGCGCAG	0.647																																																	0								ENSG00000175591						33	37	36					11																	72946213		2198	4292	6490	P2RY2	SO:0001583	missense	0			-	HGNC	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.1009G>A	11.37:g.72946213G>A	ENSP00000310305:p.Gly337Ser	Somatic	0	45	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	38	40.91	B2R9W3|Q96EM8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.G337S	ENST00000311131.2	37	c.1009	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335256	0.24253	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.25749	1.78;1.78;1.78	4.44	3.5	0.40072	.	0.912427	0.09133	N	0.844051	T	0.12390	0.0301	N	0.08118	0	0.32133	N	0.586557	B	0.10296	0.003	B	0.11329	0.006	T	0.20174	-1.0283	10	0.14252	T	0.57	.	7.6562	0.28377	0.1152:0.0:0.8848:0.0	.	337	P41231	P2RY2_HUMAN	S	337	ENSP00000377222:G337S;ENSP00000310305:G337S;ENSP00000377221:G337S	ENSP00000310305:G337S	G	+	1	0	P2RY2	72623861	0.000000	0.05858	1.000000	0.80357	0.562000	0.35680	0.308000	0.19314	2.196000	0.70406	0.561000	0.74099	GGC	-	prints_P2Y2_rcpt		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	protein_coding	OTTHUMT00000397336.1	G	NM_176072	-		72946213	1	no_errors	ENST00000311131	ensembl	human	known	74_37	missense	SNP	0.965	A	A	72946213	G	A	72946213	3	1	190	1	0	0	0	0	1	0	0	0	11354	1232	43	2	1011	2	P2RY2	11	72946213	Missense_Mutation	SNP	G	TCGA-PC-A5DK-01A-11D-A27P-09	7565197	72946213	62060303	10	13032											
STT3A	3703	genome.wustl.edu	37	chr11	125476332	125476332	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcctgggcactatactttCtatgcagatctcctttgtgg	9	11	2	1			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:125476332C>T	ENST00000529196.1	+	9	958	c.752C>T	c.(751-753)tCt>tTt	p.S251F	STT3A_ENST00000531491.1_Missense_Mutation_p.S159F|STT3A_ENST00000392708.4_Missense_Mutation_p.S251F			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	251					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACTATACTTTCTATGCAGATC	0.473																																																	0								ENSG00000134910						269	242	251					11																	125476332		2201	4299	6500	STT3A	SO:0001583	missense	0			-	HGNC	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.752C>T	11.37:g.125476332C>T	ENSP00000436962:p.Ser251Phe	Somatic	0	144	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	93	41.25	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP							pfam_Oligo_trans_STT3	p.S251F	ENST00000529196.1	37	c.752	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.381158	0.95945	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.992	D	0.87524	0.2448	9	0.56958	D	0.05	-19.8209	20.177	0.98182	0.0:1.0:0.0:0.0	.	159;159;251	B4DJ24;E9PNQ1;P46977	.;.;STT3A_HUMAN	F	251;251;159	.	ENSP00000376472:S251F	S	+	2	0	STT3A	124981542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	TCT	-	pfam_Oligo_trans_STT3		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	protein_coding	OTTHUMT00000386691.1	C	NM_152713	-		125476332	1	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	SNP	1.000	T	T	125476332	C	T	125476332	3	4	190	1	0	0	0	0	1	0	0	0	15340	913	32	2	778	2	STT3A	11	125476332	Missense_Mutation	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09	52530119	125476332	9530184	11	13033											
PZP	5858	genome.wustl.edu	37	chr12	9311088	9311088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcatctgggagagccaCgtgagagattgggtaatgtg	15	6	2	3			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:9311088C>T	ENST00000261336.2	-	26	3250	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Silent_p.T860T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1074					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						GGGAGAGCCACGTGAGAGATT	0.488																																					Melanoma(125;1402 1695 4685 34487 38571)												0								ENSG00000126838						190	175	180					12																	9311088		2203	4300	6503	PZP	SO:0001819	synonymous_variant	0			-	HGNC	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.3222G>A	12.37:g.9311088C>T		Somatic	0	97	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	69	43.90	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T1074	ENST00000261336.2	37	c.3222	CCDS8600.1	12																																																																																			-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.488	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	C	NM_002864	-		9311088	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	SNP	0.026	T	T	9311088	C	T	9311088	2	4	190	1	0	0	0	0	0	0	0	1	12877	523	19	1		1	PZP	12	9311088	Silent	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09		9311088	124540807	12	13034											
GEFT	115557	genome.wustl.edu	37	chr12	58007532	58007532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgtggacgacttggggCagattgtggaggtagctccc	16	8	0	1	rs147980194		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:58007532C>A	ENST00000286494.4	+	5	1001	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q220K|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	181	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CGACTTGGGGCAGATTGTGGA	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		19515	0		0	False		,,,				2504	0																0								ENSG00000240771	C	LYS/GLN,LYS/GLN	2,4404	4.2+/-10.8	0,2,2201	135	132	133		658,541	3.8	1	12	dbSNP_134	133	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	53,53	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	benign,benign	220/620,181/581	58007532	2,13004	2203	4300	6503	ARHGEF25	SO:0001583	missense	0			-	HGNC		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.541C>A	12.37:g.58007532C>A	ENSP00000286494:p.Gln181Lys	Somatic	0	60	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q220K	ENST00000286494.4	37	c.658	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575170	0.45902	4.54E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.62639	0.01;0.01	4.72	3.81	0.43845	Dbl homology (DH) domain (5);	0.236312	0.22224	N	0.062906	T	0.45975	0.1369	N	0.25245	0.725	0.44395	D	0.997309	B;B;B	0.15141	0.001;0.0;0.012	B;B;B	0.17098	0.004;0.004;0.017	T	0.36915	-0.9728	10	0.28530	T	0.3	.	11.5694	0.50824	0.0:0.91:0.0:0.09	.	220;181;55	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	K	220;55;181	ENSP00000335560:Q220K;ENSP00000286494:Q181K	ENSP00000286494:Q181K	Q	+	1	0	ARHGEF25	56293799	0.953000	0.32496	1.000000	0.80357	0.992000	0.81027	1.521000	0.35910	2.338000	0.79540	0.563000	0.77884	CAG	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	protein_coding	OTTHUMT00000326561.1	C	NM_133483	rs147980194		58007532	1	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58007532	C	A	58007532	3	1	190	1	0	0	0	0	1	0	0	0	6330	711	25	3	781	3	GEFT	12	58007532	Missense_Mutation	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09	48696444	58007532	75844363	13	13035											
MYO9A	4649	genome.wustl.edu	37	chr15	72141307	72141307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaacaatcagttccacaCaactgaaacagaaggaaaga	6	11	1	3			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr15:72141307C>T	ENST00000356056.5	-	39	7188	c.6716G>A	c.(6715-6717)tGt>tAt	p.C2239Y	MYO9A_ENST00000444904.1_Missense_Mutation_p.C2220Y|MYO9A_ENST00000424560.1_Missense_Mutation_p.C2310Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.C2239Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2239	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGTTCCACACAACTGAAACA	0.368																																																	0								ENSG00000066933						71	64	66					15																	72141307		2199	4297	6496	MYO9A	SO:0001583	missense	0			-	HGNC	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6716G>A	15.37:g.72141307C>T	ENSP00000348349:p.Cys2239Tyr	Somatic	0	84	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	88	9.28	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.C2310Y	ENST00000356056.5	37	c.6929	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844004	0.32606	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.41758	0.99;0.99;0.99	5.66	5.66	0.87406	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	.	.	.	.	T	0.71668	0.3367	M	0.86343	2.81	0.80722	D	1	B;D	0.89917	0.007;1.0	B;D	0.87578	0.008;0.998	T	0.75536	-0.3283	9	0.87932	D	0	.	20.1124	0.97915	0.0:1.0:0.0:0.0	.	2239;2003	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	Y	2239;2310;2220	ENSP00000348349:C2239Y;ENSP00000399162:C2310Y;ENSP00000398250:C2220Y	ENSP00000348349:C2239Y	C	-	2	0	MYO9A	69928361	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.461000	0.80834	2.834000	0.97654	0.655000	0.94253	TGT	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	protein_coding	OTTHUMT00000257308.1	C	NM_006901	-		72141307	-1	no_errors	ENST00000424560	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72141307	C	T	72141307	3	4	190	1	0	0	0	0	1	0	0	0	10086	478	17	2	946	2	MYO9A	15	72141307	Missense_Mutation	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09		72141307	30390085	14	13036											
DPEP1	1800	genome.wustl.edu	37	chr16	89702773	89702773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgtgccggatgtacccGgagaccttcctgtatgtcac	11	13	1	1	rs374005684		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr16:89702773G>A	ENST00000393092.3	+	4	630	c.339G>A	c.(337-339)ccG>ccA	p.P113P	DPEP1_ENST00000421184.1_Silent_p.P113P|DPEP1_ENST00000261615.4_Silent_p.P113P	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	113					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGATGTACCCGGAGACCTTCC	0.632																																																	0								ENSG00000015413		,	0,4372		0,0,2186	67	53	58		339,339	-10.8	0	16		58	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous	DPEP1	NM_001128141.1,NM_004413.3	,	0,1,6479	AA,AG,GG		0.0116,0.0,0.0077	,	113/412,113/412	89702773	1,12959	2186	4294	6480	DPEP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.339G>A	16.37:g.89702773G>A		Somatic	0	67	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	37	47.14	D3DX80|Q96AK2	Silent	SNP							pfam_Peptidase_M19	p.P113	ENST00000393092.3	37	c.339	CCDS10982.1	16																																																																																			-	pfam_Peptidase_M19		0.632	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	protein_coding	OTTHUMT00000423058.1	G	NM_001128141	-		89702773	1	no_errors	ENST00000261615	ensembl	human	known	74_37	silent	SNP	0.001	A	A	89702773	G	A	89702773	2	1	190	1	0	0	0	0	0	0	0	1	4715	1103	39	1		1	DPEP1	16	89702773	Silent	SNP	G	TCGA-PC-A5DK-01A-11D-A27P-09		89702773	651980	15	13037											
TP53	7157	genome.wustl.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666	ENSG00000141510						102	94	97					17																	7578190		2203	4300	6503	TP53	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;	-	HGNC	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	Somatic	0	60	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578190	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.998	C	C	7578190	T	C	7578190	3	2	190	1	0	0	0	0	1	0	0	0	16388	1406	49	5	635	5	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-PC-A5DK-01A-11D-A27P-09		7578190	73617020	16	13038											
VN1R2	317701	genome.wustl.edu	37	chr19	53762741	53762741	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgttctcatgtgccgtgaCcccagcagatccaggctctg	10	13	2	2			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr19:53762741C>G	ENST00000341702.3	+	1	1197	c.1113C>G	c.(1111-1113)gaC>gaG	p.D371E	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	371					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTGCCGTGACCCCAGCAGAT	0.443																																																	0								ENSG00000196131						157	149	152					19																	53762741		2203	4300	6503	VN1R2	SO:0001583	missense	0			-	HGNC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1113C>G	19.37:g.53762741C>G	ENSP00000351244:p.Asp371Glu	Somatic	0	77	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	42	46.15	A1L411|Q8TDU4	Missense_Mutation	SNP							pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.D371E	ENST00000341702.3	37	c.1113	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282942	0.40394	.	.	ENSG00000196131	ENST00000341702	T	0.37584	1.19	2.94	0.665	0.17896	.	.	.	.	.	T	0.39306	0.1073	L	0.57130	1.785	0.09310	N	1	P	0.39022	0.655	P	0.47786	0.557	T	0.28004	-1.0057	9	0.41790	T	0.15	.	5.0924	0.14715	0.2229:0.5091:0.268:0.0	.	371	Q8NFZ6	VN1R2_HUMAN	E	371	ENSP00000351244:D371E	ENSP00000351244:D371E	D	+	3	2	VN1R2	58454553	0.076000	0.21285	0.004000	0.12327	0.038000	0.13279	0.262000	0.18460	0.275000	0.22094	0.596000	0.82720	GAC	-	prints_Vmron_rcpt_1		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	protein_coding	OTTHUMT00000464285.1	C	NM_173856	-		53762741	1	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	SNP	0.005	G	G	53762741	C	G	53762741	3	3	190	1	0	0	0	0	1	0	0	0	17186	506	18	4	1115	4	VN1R2	19	53762741	Missense_Mutation	SNP	C	TCGA-PC-A5DK-01A-11D-A27P-09		53762741	5366242	17	13039											
C20orf70	140683	genome.wustl.edu	37	chr20	31763325	31763325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgtcctgggagaatgcGccagtgacccaaccagcatc	11	14	0	2	rs73904618	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr20:31763325G>T	ENST00000253362.2	+	5	669	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	BPIFA2_ENST00000354932.5_Missense_Mutation_p.A175S			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	175						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GGGAGAATGCGCCAGTGACCC	0.522																																																	0								ENSG00000131050						188	164	172					20																	31763325		2203	4300	6503	BPIFA2	SO:0001583	missense	0			-	HGNC	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"BPI fold containing"	16203	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 70"	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.523G>T	20.37:g.31763325G>T	ENSP00000253362:p.Ala175Ser	Somatic	0	66	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	Q9BQQ0	Missense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.A175S	ENST00000253362.2	37	c.523	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.236974	0.05944	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.04194	3.68;3.68	4.08	-8.16	0.01061	.	3.835250	0.00424	N	0.000070	T	0.01592	0.0051	N	0.04090	-0.28	0.09310	N	1	B	0.18310	0.027	B	0.18561	0.022	T	0.40646	-0.9552	10	0.02654	T	1	-27.2649	1.4427	0.02357	0.1602:0.2108:0.3639:0.2652	.	175	Q96DR5	BPIA2_HUMAN	S	175	ENSP00000253362:A175S;ENSP00000347012:A175S	ENSP00000253362:A175S	A	+	1	0	BPIFA2	31226986	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.084000	0.00612	-2.218000	0.00730	0.555000	0.69702	GCC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.522	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	protein_coding	OTTHUMT00000257117.1	G	NM_080574	-		31763325	1	no_errors	ENST00000253362	ensembl	human	known	74_37	missense	SNP	0.000	T	T	31763325	G	T	31763325	3	4	190	1	0	0	0	0	1	0	0	0	2118	1087	38	3	537	3	C20orf70	20	31763325	Missense_Mutation	SNP	G	TCGA-PC-A5DK-01A-11D-A27P-09		31763325	31262195	18	13040											
SMTN	6525	genome.wustl.edu	37	chr22	31500342	31500344	+	In_Frame_Del	DEL	ATG	ATG	-													ccctggtggaggtggacgacAtgatgatcatgggcaagaag							TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	ATG	ATG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr22:31500342_31500344delATG	ENST00000347557.2	+	20	2862_2864	c.2644_2646delATG	c.(2644-2646)atgdel	p.M883del	SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000358743.1_In_Frame_Del_p.M906del|SELM_ENST00000465536.1_5'Flank	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	883	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGTGGACGACATGATGATCATGG	0.635																																																	0								ENSG00000183963																																			SMTN	SO:0001651	inframe_deletion	0				HGNC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2644_2646delATG	22.37:g.31500345_31500347delATG	ENSP00000328635:p.Met883del	Somatic	0	79	0		0.554340099735985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	51	39.29	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	In_Frame_Del	DEL							pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.M883in_frame_del	ENST00000347557.2	37	c.2644_2646	CCDS13886.1	22																																																																																			-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.635	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	protein_coding	OTTHUMT00000321766.1	ATG	NM_134270			31500344	1	no_errors	ENST00000347557	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	31500344	ATG	-	31500342	7	5	190	1	0	1	0	1	0	0	0	0	14822	217	8	0	2867	0	SMTN	22	31500342	In_Frame_Del	DEL	ATG	TCGA-PC-A5DK-01A-11D-A27P-09		31500342	19804224	19	13041											
PRKAA2	5563	genome.wustl.edu	37	chr1	57111096	57111096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcacgacgggcgggtgaaGatcggacactacgtgctggg	17	9	0	2			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr1:57111096G>C	ENST00000371244.4	+	1	102	c.36G>C	c.(34-36)aaG>aaC	p.K12N		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	12					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)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GGCGGGTGAAGATCGGACACT	0.701																																																	0								ENSG00000162409						37	35	36					1																	57111096		2195	4288	6483	PRKAA2	SO:0001583	missense	0			-	HGNC	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.36G>C	1.37:g.57111096G>C	ENSP00000360290:p.Lys12Asn	Somatic	0	33	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q9H1E8|Q9UD43	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K12N	ENST00000371244.4	37	c.36	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725378	0.89298	.	.	ENSG00000162409	ENST00000371244	T	0.73363	-0.74	4.0	3.09	0.35607	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.71896	0.3394	N	0.20986	0.625	0.80722	D	1	D	0.58970	0.984	P	0.61533	0.89	T	0.71567	-0.4554	10	0.66056	D	0.02	-8.9599	7.9254	0.29872	0.195:0.0:0.805:0.0	.	12	P54646	AAPK2_HUMAN	N	12	ENSP00000360290:K12N	ENSP00000360290:K12N	K	+	3	2	PRKAA2	56883684	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.901000	0.48695	0.666000	0.31087	0.306000	0.20318	AAG	-	superfamily_Kinase-like_dom		0.701	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	G	NM_006252	-		57111096	1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57111096	G	C	57111096	3	2	191	1	0	0	0	0	1	0	0	0	12499	933	33	4	38	4	PRKAA2	1	57111096	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09		57111096	192139525	1	13042											
DQX1	165545	genome.wustl.edu	37	chr2	74751281	74751281	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaccactctgaggtccccCggaagtttttccagcctggc	9	15	1	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr2:74751281C>A	ENST00000404568.3	-	4	804	c.585G>T	c.(583-585)ccG>ccT	p.P195P	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Silent_p.P195P	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	195	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGAGGTCCCCCGGAAGTTTTT	0.572																																																	0								ENSG00000144045						75	78	77					2																	74751281		2203	4300	6503	DQX1	SO:0001819	synonymous_variant	0			-	HGNC	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.585G>T	2.37:g.74751281C>A		Somatic	0	49	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	49	28.99	Q6B017|Q8NAM8	Silent	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.P195	ENST00000404568.3	37	c.585	CCDS1949.2	2																																																																																			-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.572	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	protein_coding	OTTHUMT00000252230.3	C	NM_133637	-		74751281	-1	no_errors	ENST00000393951	ensembl	human	known	74_37	silent	SNP	0.843	A	A	74751281	C	A	74751281	2	1	191	1	0	0	0	0	0	0	0	1	4753	639	23	3		3	DQX1	2	74751281	Silent	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		74751281	168448092	2	13043											
ZDHHC3	51304	genome.wustl.edu	37	chr3	44968308	44968308	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttgtttttttagcccatCttctctcttcctttttcaat	2	10	4	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr3:44968308C>A	ENST00000424952.2	-	7	1041	c.773G>T	c.(772-774)aGa>aTa	p.R258I	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.R292I|ZDHHC3_ENST00000296127.3_Missense_Mutation_p.R286I	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	258					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TTTAGCCCATCTTCTCTCTTC	0.473																																																	0								ENSG00000163812						137	126	129					3																	44968308		2203	4300	6503	ZDHHC3	SO:0001583	missense	0			-	HGNC	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.773G>T	3.37:g.44968308C>A	ENSP00000395502:p.Arg258Ile	Somatic	0	32	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q53A17|Q96BL0	Missense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R286I	ENST00000424952.2	37	c.857	CCDS46811.1	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200285	0.79015	.	.	ENSG00000163812	ENST00000296127;ENST00000424952;ENST00000342790	T;T;T	0.60299	1.03;1.22;0.2	5.82	5.82	0.92795	.	0.042158	0.85682	D	0.000000	T	0.61813	0.2377	M	0.68593	2.085	0.80722	D	1	B;B	0.29955	0.074;0.263	B;B	0.32090	0.091;0.14	T	0.60281	-0.7294	10	0.49607	T	0.09	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	258;286	Q9NYG2-2;Q9NYG2	.;ZDHC3_HUMAN	I	286;258;292	ENSP00000296127:R286I;ENSP00000395502:R258I;ENSP00000345268:R292I	ENSP00000296127:R286I	R	-	2	0	ZDHHC3	44943312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.898000	0.69838	2.767000	0.95098	0.655000	0.94253	AGA	-	NULL		0.473	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	protein_coding	OTTHUMT00000347004.1	C	NM_016598	-		44968308	-1	no_errors	ENST00000296127	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44968308	C	A	44968308	3	1	191	1	0	0	0	0	1	0	0	0	17623	913	32	3	383	3	ZDHHC3	3	44968308	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		44968308	153054122	3	13044											
HCLS1	3059	genome.wustl.edu	37	chr3	121350968	121350968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttggtaatcatatacaGccacagctgagatccccaga	7	13	1	2			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr3:121350968G>T	ENST00000314583.3	-	13	1395	c.1304C>A	c.(1303-1305)gCt>gAt	p.A435D	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.A398D	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	435	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		ATCATATACAGCCACAGCTGA	0.542																																																	0								ENSG00000180353						77	82	81					3																	121350968		2203	4300	6503	HCLS1	SO:0001583	missense	0			-	HGNC		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.1304C>A	3.37:g.121350968G>T	ENSP00000320176:p.Ala435Asp	Somatic	0	12	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP							pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.A435D	ENST00000314583.3	37	c.1304	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274414	0.40194	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	D;D	0.81499	-1.5;-1.5	4.89	4.89	0.63831	Src homology-3 domain (5);	0.047759	0.85682	D	0.000000	D	0.92938	0.7753	H	0.99357	4.53	0.80722	D	1	D;P	0.54601	0.967;0.942	P;P	0.57057	0.812;0.812	D	0.95614	0.8675	10	0.87932	D	0	-6.6303	15.5931	0.76554	0.0:0.0:1.0:0.0	.	398;435	E7EVW7;P14317	.;HCLS1_HUMAN	D	435;398	ENSP00000320176:A435D;ENSP00000387645:A398D	ENSP00000320176:A435D	A	-	2	0	HCLS1	122833658	1.000000	0.71417	0.973000	0.42090	0.076000	0.17211	9.101000	0.94219	2.548000	0.85928	0.561000	0.74099	GCT	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.542	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	protein_coding	OTTHUMT00000355144.1	G	NM_005335	-		121350968	-1	no_errors	ENST00000314583	ensembl	human	known	74_37	missense	SNP	0.989	T	T	121350968	G	T	121350968	3	4	191	1	0	0	0	0	1	0	0	0	6997	971	34	3	164	3	HCLS1	3	121350968	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09	76382660	121350968	76671462	4	13045											
OTOP1	133060	genome.wustl.edu	37	chr4	4199618	4199618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtcaggcccaggactgCgcccaccatgaccccatcag	10	18	2	1	rs561501386		TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr4:4199618C>T	ENST00000296358.4	-	5	967	c.943G>A	c.(943-945)Gca>Aca	p.A315T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	315					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCAGGACTGCGCCCACCATG	0.567													C|||	1	0.000199681	0	0	5008	,	,		19032	0		0	False		,,,				2504	0.001																0								ENSG00000163982						59	54	55					4																	4199618		2203	4300	6503	OTOP1	SO:0001583	missense	0			-	HGNC	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.943G>A	4.37:g.4199618C>T	ENSP00000296358:p.Ala315Thr	Somatic	0	61	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	38	42.42	A1L476	Missense_Mutation	SNP							pfam_Otopetrin	p.A315T	ENST00000296358.4	37	c.943	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	C	0.925	-0.714741	0.03206	.	.	ENSG00000163982	ENST00000296358	T	0.21734	1.99	4.8	1.94	0.25998	.	0.464440	0.21353	N	0.075923	T	0.04497	0.0123	N	0.00926	-1.1	0.23089	N	0.998317	B	0.09022	0.002	B	0.06405	0.002	T	0.40683	-0.9550	10	0.06099	T	0.92	.	4.3301	0.11059	0.4535:0.143:0.0:0.4035	.	315	Q7RTM1	OTOP1_HUMAN	T	315	ENSP00000296358:A315T	ENSP00000296358:A315T	A	-	1	0	OTOP1	4250519	0.999000	0.42202	0.480000	0.27341	0.011000	0.07611	1.890000	0.39728	0.789000	0.33779	0.404000	0.27445	GCA	-	pfam_Otopetrin		0.567	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	protein_coding	OTTHUMT00000206661.2	C	NM_177998	-		4199618	-1	no_errors	ENST00000296358	ensembl	human	known	74_37	missense	SNP	0.965	T	T	4199618	C	T	4199618	3	4	191	1	0	0	0	0	1	0	0	0	11307	768	27	1	903	1	OTOP1	4	4199618	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		4199618	186954658	5	13046											
GK2	2712	genome.wustl.edu	37	chr4	80328302	80328302	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccataagaagttcctacTtctttagcaagtctttcaat	5	10	3	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr4:80328302T>A	ENST00000358842.3	-	1	1070	c.1053A>T	c.(1051-1053)gaA>gaT	p.E351D		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGTTCCTACTTCTTTAGCAA	0.448																																																	0								ENSG00000196475						114	109	111					4																	80328302		2203	4300	6503	GK2	SO:0001583	missense	0			-	HGNC	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1053A>T	4.37:g.80328302T>A	ENSP00000351706:p.Glu351Asp	Somatic	0	57	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	35	43.55	Q7Z4Q4	Missense_Mutation	SNP							pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.E351D	ENST00000358842.3	37	c.1053	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	T	6.256	0.415387	0.11870	.	.	ENSG00000196475	ENST00000358842	D	0.85013	-1.93	4.04	-1.44	0.08856	Carbohydrate kinase, FGGY, C-terminal (1);	0.486124	0.22908	N	0.054166	T	0.70369	0.3216	L	0.31664	0.95	0.38455	D	0.947072	B	0.09022	0.002	B	0.15052	0.012	T	0.54022	-0.8355	10	0.51188	T	0.08	-11.2087	3.0148	0.06055	0.3272:0.1962:0.0:0.4765	.	351	Q14410	GLPK2_HUMAN	D	351	ENSP00000351706:E351D	ENSP00000351706:E351D	E	-	3	2	GK2	80547326	0.896000	0.30565	0.082000	0.20525	0.317000	0.28152	-0.281000	0.08456	-0.212000	0.10109	-0.361000	0.07541	GAA	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin		0.448	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	protein_coding	OTTHUMT00000252517.2	T	NM_033214	-		80328302	-1	no_errors	ENST00000358842	ensembl	human	known	74_37	missense	SNP	0.743	A	A	80328302	T	A	80328302	3	1	191	1	0	0	0	0	1	0	0	0	6423	1606	56	5	612	5	GK2	4	80328302	Missense_Mutation	SNP	T	TCGA-PC-A5DL-01A-11D-A26G-09	76128684	80328302	110825974	6	13047											
PTPN13	5783	genome.wustl.edu	37	chr4	87685826	87685826	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcctaagcctggagatatCtttgaggttgaactggctaa	10	9	1	3			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr4:87685826C>A	ENST00000411767.2	+	25	4161	c.4098C>A	c.(4096-4098)atC>atA	p.I1366I	PTPN13_ENST00000427191.2_Silent_p.I1347I|PTPN13_ENST00000436978.1_Silent_p.I1366I|PTPN13_ENST00000511467.1_Silent_p.I1366I|PTPN13_ENST00000316707.6_Silent_p.I1175I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1366					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTGGAGATATCTTTGAGGTTG	0.353																																																	0								ENSG00000163629						94	89	91					4																	87685826		1807	4084	5891	PTPN13	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4098C>A	4.37:g.87685826C>A		Somatic	0	34	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP							pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I1366	ENST00000411767.2	37	c.4098	CCDS47094.1	4																																																																																			-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ		0.353	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	protein_coding	OTTHUMT00000363191.1	C		-		87685826	1	no_errors	ENST00000436978	ensembl	human	known	74_37	silent	SNP	1.000	A	A	87685826	C	A	87685826	2	1	191	1	0	0	0	0	0	0	0	1	12788	903	32	3		3	PTPN13	4	87685826	Silent	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09	7357524	87685826	103468450	7	13048											
TRPC3	7222	genome.wustl.edu	37	chr4	122853578	122853578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtgagtggctgaaggagtCgtgcctctgcttctccatgc	14	11	2	2			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr4:122853578C>T	ENST00000379645.3	-	2	908	c.835G>A	c.(835-837)Gac>Aac	p.D279N	TRPC3_ENST00000264811.5_Missense_Mutation_p.D206N|TRPC3_ENST00000513531.1_Missense_Mutation_p.D206N	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	194					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGAAGGAGTCGTGCCTCTGC	0.602																																																	0								ENSG00000138741						50	45	46					4																	122853578		2203	4300	6503	TRPC3	SO:0001583	missense	0			-	HGNC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.835G>A	4.37:g.122853578C>T	ENSP00000368966:p.Asp279Asn	Somatic	0	25	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D279N	ENST00000379645.3	37	c.835	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401147	0.62288	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.84873	-1.91;-1.91;-1.91	5.34	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.92561	0.7637	M	0.85945	2.785	0.50039	D	0.999843	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93466	0.6815	10	0.87932	D	0	-16.0276	13.8389	0.63426	0.0:0.9268:0.0:0.0732	.	206;279	E9PCJ9;Q5G1L5	.;.	N	206;279;206	ENSP00000264811:D206N;ENSP00000368966:D279N;ENSP00000426899:D206N	ENSP00000264811:D206N	D	-	1	0	TRPC3	123073028	1.000000	0.71417	0.993000	0.49108	0.140000	0.21249	7.652000	0.83633	1.249000	0.43950	0.655000	0.94253	GAC	-	pfam_TRP_dom,tigrfam_TRP_channel		0.602	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	protein_coding	OTTHUMT00000364252.1	C	NM_003305	-		122853578	-1	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122853578	C	T	122853578	3	4	191	1	0	0	0	0	1	0	0	0	16586	884	31	1	1974	1	TRPC3	4	122853578	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09	35167752	122853578	68300698	8	13049											
ZFR	51663	genome.wustl.edu	37	chr5	32390512	32390512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgttgttcttcctccaTtctcctccagtacatgtcct	5	13	2	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr5:32390512T>C	ENST00000265069.8	-	12	2113	c.2011A>G	c.(2011-2013)Atg>Gtg	p.M671V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	671					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M671V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTTCCTCCATTCTCCTCCAG	0.463																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000056097						143	138	140					5																	32390512		2203	4300	6503	ZFR	SO:0001583	missense	0			-	HGNC	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2011A>G	5.37:g.32390512T>C	ENSP00000265069:p.Met671Val	Somatic	0	22	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP							pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.M671V	ENST00000265069.8	37	c.2011	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845438	0.32606	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04758	3.56	5.28	5.28	0.74379	.	0.035534	0.85682	D	0.000000	T	0.06645	0.0170	L	0.52364	1.645	0.52501	D	0.999958	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	10	0.20046	T	0.44	.	15.2048	0.73169	0.0:0.0:0.0:1.0	.	671	Q96KR1	ZFR_HUMAN	V	671;649	ENSP00000265069:M671V	ENSP00000265069:M671V	M	-	1	0	ZFR	32426269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.616000	0.61197	1.993000	0.58246	0.459000	0.35465	ATG	-	NULL		0.463	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	protein_coding	OTTHUMT00000366586.1	T		-		32390512	-1	no_errors	ENST00000265069	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32390512	T	C	32390512	3	2	191	1	0	0	0	0	1	0	0	0	17666	1493	52	5	1249	5	ZFR	5	32390512	Missense_Mutation	SNP	T	TCGA-PC-A5DL-01A-11D-A26G-09		32390512	148524748	9	13050											
GABRA1	2554	genome.wustl.edu	37	chr5	161309577	161309577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttagatgcttatacaagAgcagaagttgtttatgaatg	9	4	0	4			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr5:161309577A>G	ENST00000428797.2	+	8	928	c.573A>G	c.(571-573)agA>agG	p.R191R	GABRA1_ENST00000393943.4_Silent_p.R191R|GABRA1_ENST00000023897.6_Silent_p.R191R|GABRA1_ENST00000420560.1_Silent_p.R191R|GABRA1_ENST00000437025.2_Silent_p.R191R|GABRA1_ENST00000444819.1_Silent_p.R191R	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	191					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTTATACAAGAGCAGAAGTTG	0.378																																																	0								ENSG00000022355						115	108	110					5																	161309577		2203	4300	6503	GABRA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.573A>G	5.37:g.161309577A>G		Somatic	0	51	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	23	58.93	D3DQK6|Q8N629	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R191	ENST00000428797.2	37	c.573	CCDS4357.1	5																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.378	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	protein_coding	OTTHUMT00000252702.2	A	NM_000806.5	-		161309577	1	no_errors	ENST00000023897	ensembl	human	known	74_37	silent	SNP	1.000	G	G	161309577	A	G	161309577	2	3	191	1	0	0	0	0	0	0	0	1	6162	301	11	5		5	GABRA1	5	161309577	Silent	SNP	A	TCGA-PC-A5DL-01A-11D-A26G-09	128919065	161309577	19605683	10	13051											
UIMC1	51720	genome.wustl.edu	37	chr5	176396219	176396219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtcccaaggctcctcTctttcctcagcctcgtttcc	8	16	2	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr5:176396219T>C	ENST00000377227.4	-	6	669	c.537A>G	c.(535-537)agA>agG	p.R179R	UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000511320.1_Silent_p.R179R|UIMC1_ENST00000377219.2_Silent_p.R179R|UIMC1_ENST00000506128.1_Silent_p.R179R			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	179	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGCTCCTCTCTTTCCTCAG	0.507																																																	0								ENSG00000087206						81	82	81					5																	176396219		2203	4300	6503	UIMC1	SO:0001819	synonymous_variant	0			-	HGNC	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.537A>G	5.37:g.176396219T>C		Somatic	0	48	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP							smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif	p.R179	ENST00000377227.4	37	c.537	CCDS4408.1	5																																																																																			-	NULL		0.507	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UIMC1	protein_coding	OTTHUMT00000253422.1	T	NM_016290	-		176396219	-1	no_errors	ENST00000377219	ensembl	human	known	74_37	silent	SNP	1.000	C	C	176396219	T	C	176396219	2	2	191	1	0	0	0	0	0	0	0	1	16978	1548	54	5		5	UIMC1	5	176396219	Silent	SNP	T	TCGA-PC-A5DL-01A-11D-A26G-09	15086642	176396219	4519041	11	13052											
TNXB	7148	genome.wustl.edu	37	chr6	32041701	32041701	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctccagcggggactcagtGgctggaggggtctcttcttg	17	10	3	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr6:32041701G>T	ENST00000375244.3	-	12	4605	c.4404C>A	c.(4402-4404)gcC>gcA	p.A1468A	TNXB_ENST00000375247.2_Silent_p.A1468A			P22105	TENX_HUMAN	tenascin XB	1555	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGACTCAGTGGCTGGAGGGG	0.547																																																	0								ENSG00000168477						27	29	28					6																	32041701		1204	2538	3742	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4404C>A	6.37:g.32041701G>T		Somatic	0	27	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	1	90.91	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A1468	ENST00000375244.3	37	c.4404		6																																																																																			-	NULL		0.547	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32041701	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	0.286	T	T	32041701	G	T	32041701	2	4	191	1	0	0	0	0	0	0	0	1	16353	1335	47	3		3	TNXB	6	32041701	Silent	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09		32041701	139073366	12	13053											
MDGA1	266727	genome.wustl.edu	37	chr6	37612423	37612423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaaagtggcaggtgtTgtctgcattttatggggcga	13	7	2	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr6:37612423T>C	ENST00000434837.3	-	13	3429	c.2251A>G	c.(2251-2253)Aac>Gac	p.N751D	MDGA1_ENST00000505425.1_Missense_Mutation_p.N751D|MDGA1_ENST00000297153.7_Missense_Mutation_p.N755D|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	751	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGGCAGGTGTTGTCTGCATTT	0.567																																																	0								ENSG00000112139						74	78	77					6																	37612423		2044	4191	6235	MDGA1	SO:0001583	missense	0			-	HGNC	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2251A>G	6.37:g.37612423T>C	ENSP00000402584:p.Asn751Asp	Somatic	0	47	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	5	80.77	A6NHG0|Q8NBE3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.N755D	ENST00000434837.3	37	c.2263	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	T	11.85	1.763007	0.31228	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.01981	4.52;4.52;4.52	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.51477	D	0.000089	T	0.01061	0.0035	L	0.40543	1.245	0.39226	D	0.96358	B;P	0.38535	0.42;0.635	B;B	0.32289	0.143;0.121	T	0.66666	-0.5866	10	0.30078	T	0.28	.	14.5406	0.67990	0.0:0.0:0.0:1.0	.	751;751	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	D	751;755;751	ENSP00000402584:N751D;ENSP00000297153:N755D;ENSP00000422042:N751D	ENSP00000297153:N755D	N	-	1	0	MDGA1	37720401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.706000	0.47135	2.081000	0.62600	0.533000	0.62120	AAC	-	superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.567	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	protein_coding	OTTHUMT00000040419.3	T		-		37612423	-1	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	SNP	1.000	C	C	37612423	T	C	37612423	3	2	191	1	0	0	0	0	1	0	0	0	9408	1812	63	5	636	5	MDGA1	6	37612423	Missense_Mutation	SNP	T	TCGA-PC-A5DL-01A-11D-A26G-09	5570722	37612423	133502644	13	13054											
FABP7	2173	genome.wustl.edu	37	chr6	123100972	123100972	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctgtgctacctggaagctGaccaacagtcagaactttga	9	10	2	3			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr6:123100972G>C	ENST00000368444.3	+	1	353	c.33G>C	c.(31-33)ctG>ctC	p.L11L	FABP7_ENST00000356535.4_Silent_p.L11L	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	11					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	CCTGGAAGCTGACCAACAGTC	0.483																																																	0								ENSG00000164434						101	80	87					6																	123100972		2203	4300	6503	FABP7	SO:0001819	synonymous_variant	0			-	HGNC	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"Fatty acid binding protein family"	3562	protein-coding gene	gene with protein product	"brain lipid binding protein"	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.33G>C	6.37:g.123100972G>C		Somatic	0	30	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B2R4L1|O14951|Q6IAU7|Q9H047	Silent	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.L11	ENST00000368444.3	37	c.33	CCDS5127.1	6																																																																																			-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd		0.483	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP7	protein_coding	OTTHUMT00000042037.1	G	NM_001446	-		123100972	1	no_errors	ENST00000356535	ensembl	human	known	74_37	silent	SNP	1.000	C	C	123100972	G	C	123100972	2	2	191	1	0	0	0	0	0	0	0	1	5364	1277	45	4		4	FABP7	6	123100972	Silent	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09	85488549	123100972	48014095	14	13055											
VNN2	8875	genome.wustl.edu	37	chr6	133072574	133072574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataggggatgtgaatccaCctctgaaaggagaagttttc	13	6	1	3			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr6:133072574C>T	ENST00000326499.6	-	5	1034	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	VNN2_ENST00000525270.1_Missense_Mutation_p.V251M|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	304	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TGTGAATCCACCTCTGAAAGG	0.428																																																	0								ENSG00000112303						77	76	77					6																	133072574		2202	4295	6497	VNN2	SO:0001583	missense	0			-	HGNC	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.910G>A	6.37:g.133072574C>T	ENSP00000322276:p.Val304Met	Somatic	0	48	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	53	10.17	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP							pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.V304M	ENST00000326499.6	37	c.910	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619437	0.46736	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.89343	-2.5;-2.5	5.48	-11.0	0.00169	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.510568	0.17256	N	0.180945	T	0.77711	0.4171	M	0.86573	2.825	0.27719	N	0.94519	P	0.46395	0.877	B	0.41510	0.359	T	0.68965	-0.5270	10	0.72032	D	0.01	-3.9906	7.0349	0.24987	0.5761:0.1215:0.2363:0.0661	.	304	O95498	VNN2_HUMAN	M	304;251	ENSP00000322276:V304M;ENSP00000436822:V251M	ENSP00000322276:V304M	V	-	1	0	VNN2	133114267	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.009000	0.01455	-1.894000	0.01105	-0.192000	0.12808	GTG	-	pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	protein_coding	OTTHUMT00000042264.2	C		-		133072574	-1	no_errors	ENST00000326499	ensembl	human	known	74_37	missense	SNP	0.000	T	T	133072574	C	T	133072574	3	4	191	1	0	0	0	0	1	0	0	0	17190	507	18	2	664	2	VNN2	6	133072574	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09	9971602	133072574	38042493	15	13056											
CLDN20	49861	genome.wustl.edu	37	chr6	155597310	155597310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttctggatctgacagttCcagaaagcaacaaacatgaa	7	9	2	3	rs200032175		TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr6:155597310C>T	ENST00000367165.3	+	2	837	c.457C>T	c.(457-459)Cca>Tca	p.P153S	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	153					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)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		TCTGACAGTTCCAGAAAGCAA	0.423																																																	0								ENSG00000171217						100	95	97					6																	155597310		2203	4300	6503	CLDN20	SO:0001583	missense	0			-	HGNC	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"Claudins"	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.457C>T	6.37:g.155597310C>T	ENSP00000356133:p.Pro153Ser	Somatic	0	30	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.P153S	ENST00000367165.3	37	c.457	CCDS5249.1	6	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922756	0.52653	.	.	ENSG00000171217	ENST00000367165	D	0.88741	-2.42	5.71	3.9	0.45041	.	0.056815	0.64402	N	0.000001	T	0.82102	0.4964	M	0.82923	2.615	0.48696	D	0.999699	P	0.41475	0.751	B	0.37387	0.248	T	0.79443	-0.1801	10	0.33141	T	0.24	.	9.6664	0.39988	0.0:0.662:0.2677:0.0704	.	153	P56880	CLD20_HUMAN	S	153	ENSP00000356133:P153S	ENSP00000356133:P153S	P	+	1	0	CLDN20	155639002	1.000000	0.71417	0.057000	0.19452	0.935000	0.57460	3.749000	0.55150	0.740000	0.32651	0.563000	0.77884	CCA	-	pfam_PMP22/EMP/MP20/Claudin		0.423	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN20	protein_coding	OTTHUMT00000042818.1	C	NM_001001346	rs200032175		155597310	1	no_errors	ENST00000367165	ensembl	human	known	74_37	missense	SNP	0.999	T	T	155597310	C	T	155597310	3	4	191	1	0	0	0	0	1	0	0	0	3484	855	30	2	459	2	CLDN20	6	155597310	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09	22524736	155597310	15517757	16	13057											
C10orf79	80217	genome.wustl.edu	37	chr10	105903296	105903296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcatccatagctttcAttaactgggcaaaggcatcc	6	13	2	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr10:105903296A>T	ENST00000357060.3	-	32	4161	c.4046T>A	c.(4045-4047)aTg>aAg	p.M1349K	WDR96_ENST00000428666.1_Missense_Mutation_p.M1321K|WDR96_ENST00000479392.1_5'Flank	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATAGCTTTCATTAACTGGGC	0.438																																																	0								ENSG00000197748						140	131	134					10																	105903296		2203	4300	6503	WDR96	SO:0001583	missense	0			-	HGNC																												ENST00000357060.3:c.4046T>A	10.37:g.105903296A>T	ENSP00000349568:p.Met1349Lys	Somatic	0	50	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	53.49		Missense_Mutation	SNP							superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.M1349K	ENST00000357060.3	37	c.4046	CCDS31281.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.766053|4.766053	0.90020|0.90020	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.14022|.	2.54;2.6|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.040458|.	0.85682|.	D|.	0.000000|.	T|.	0.75788|.	0.3897|.	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.54047|.	0.964;0.963|.	P;P|.	0.56434|.	0.775;0.798|.	T|.	0.75850|.	-0.3172|.	10|.	0.11794|.	T|.	0.64|.	.|.	16.2035|16.2035	0.82105|0.82105	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1321;1349|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	K|R	1349;1321|198;681	ENSP00000349568:M1349K;ENSP00000400289:M1321K|.	ENSP00000349568:M1349K|.	M|X	-|-	2|1	0|0	WDR96|WDR96	105893286|105893286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.927000|5.927000	0.70080|0.70080	2.304000|2.304000	0.77564|0.77564	0.528000|0.528000	0.53228|0.53228	ATG|TGA	-	NULL		0.438	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	protein_coding		A		-		105903296	-1	no_errors	ENST00000357060	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105903296	A	T	105903296	3	4	191	1	0	0	0	0	1	0	0	0	1620	217	8	5	979	5	C10orf79	10	105903296	Missense_Mutation	SNP	A	TCGA-PC-A5DL-01A-11D-A26G-09		105903296	29631451	17	13058											
SORCS1	114815	genome.wustl.edu	37	chr10	108434899	108434899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatttgctccaagatctcccTtcatcaaaactcaacctaat	2	13	4	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr10:108434899T>A	ENST00000263054.6	-	14	1855	c.1848A>T	c.(1846-1848)gaA>gaT	p.E616D	SORCS1_ENST00000369698.1_Missense_Mutation_p.E151D|SORCS1_ENST00000344440.6_Missense_Mutation_p.E616D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	616					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGATCTCCCTTCATCAAAAC	0.383																																																	0								ENSG00000108018						97	93	94					10																	108434899		2203	4300	6503	SORCS1	SO:0001583	missense	0			-	HGNC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1848A>T	10.37:g.108434899T>A	ENSP00000263054:p.Glu616Asp	Somatic	0	30	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.E616D	ENST00000263054.6	37	c.1848	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300777	0.81136	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.38722	1.12;1.12;1.12	5.92	4.79	0.61399	VPS10 (1);	0.048853	0.85682	D	0.000000	T	0.64983	0.2648	M	0.85542	2.76	0.41029	D	0.985148	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.997;0.999	T	0.67933	-0.5542	9	.	.	.	-17.4375	9.0098	0.36135	0.0:0.1413:0.0:0.8587	.	616;616;616;616;616	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	151;616;616	ENSP00000358712:E151D;ENSP00000263054:E616D;ENSP00000345964:E616D	.	E	-	3	2	SORCS1	108424889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.290000	0.51755	1.062000	0.40625	0.533000	0.62120	GAA	-	smart_VPS10		0.383	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	T	NM_052918	-		108434899	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108434899	T	A	108434899	3	1	191	1	0	0	0	0	1	0	0	0	14938	1606	56	5	1944	5	SORCS1	10	108434899	Missense_Mutation	SNP	T	TCGA-PC-A5DL-01A-11D-A26G-09	2531603	108434899	27099848	18	13059											
OR52N4	390072	genome.wustl.edu	37	chr11	5776517	5776517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccatacctactgtgacCacatgtctgtagccaaattg	6	13	1	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr11:5776517C>T	ENST00000317254.3	+	1	595	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTACTGTGACCACATGTCTGT	0.468																																																	0								ENSG00000181074						187	175	179					11																	5776517		2182	4291	6473	OR52N4	SO:0001583	missense	0			-	HGNC	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.547C>T	11.37:g.5776517C>T	ENSP00000323224:p.His183Tyr	Somatic	0	64	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	B2RNP8|Q6IF77	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H183Y	ENST00000317254.3	37	c.547	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625072	0.46840	.	.	ENSG00000181074	ENST00000317254	T	0.00152	8.66	6.1	6.1	0.99115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000153	T	0.00608	0.0020	M	0.87900	2.915	0.29514	N	0.854011	D	0.59767	0.986	D	0.69654	0.965	T	0.48445	-0.9035	10	0.72032	D	0.01	.	19.2784	0.94040	0.0:1.0:0.0:0.0	.	183	Q8NGI2	O52N4_HUMAN	Y	183	ENSP00000323224:H183Y	ENSP00000323224:H183Y	H	+	1	0	OR52N4	5733093	0.038000	0.19896	1.000000	0.80357	0.372000	0.29890	0.382000	0.20635	2.902000	0.99343	0.650000	0.86243	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	protein_coding	OTTHUMT00000143350.1	C	NM_001005175	-		5776517	1	no_errors	ENST00000317254	ensembl	human	known	74_37	missense	SNP	0.996	T	T	5776517	C	T	5776517	3	4	191	1	0	0	0	0	1	0	0	0	11131	594	21	2	549	2	OR52N4	11	5776517	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		5776517	129229999	19	13060											
PTPRJ	5795	genome.wustl.edu	37	chr11	48152268	48152268	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagtttgcaatagaactGgtaagcaaataggcttttct	10	6	1	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr11:48152268G>A	ENST00000418331.2	+	8	1967	c.1615G>A	c.(1615-1617)Gtt>Att	p.V539I	PTPRJ_ENST00000440289.2_Splice_Site_p.G539R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	539	Fibronectin type-III 5. {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						CAATAGAACTGGTAAGCAAAT	0.343																																																	0								ENSG00000149177						60	64	63					11																	48152268		2201	4297	6498	PTPRJ	SO:0001630	splice_region_variant	0			-	HGNC	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.1615+1G>A	11.37:g.48152268G>A		Somatic	0	27	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V539I	ENST00000418331.2	37	c.1615	CCDS7945.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.024157|2.024157	0.35701|0.35701	.|.	.|.	ENSG00000149177|ENSG00000149177	ENST00000440289|ENST00000418331	T|T	0.39787|0.55930	1.06|0.49	5.71|5.71	4.8|4.8	0.61643|0.61643	.|Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.33147|0.33147	0.0853|0.0853	N|N	0.08118|0.08118	0|0	0.24361|0.24361	N|N	0.994871|0.994871	B|B	0.21309|0.20261	0.054|0.043	B|B	0.09377|0.25759	0.004|0.063	T|T	0.10636|0.10636	-1.0621|-1.0621	9|9	0.66056|0.37606	D|T	0.02|0.19	.|.	9.6371|9.6371	0.39817|0.39817	0.0923:0.0:0.9077:0.0|0.0923:0.0:0.9077:0.0	.|.	539|539	Q6P4H4|Q12913	.|PTPRJ_HUMAN	R|I	539|539	ENSP00000409733:G539R|ENSP00000400010:V539I	ENSP00000409733:G539R|ENSP00000400010:V539I	G|V	+|+	1|1	0|0	PTPRJ|PTPRJ	48108844|48108844	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.323000|0.323000	0.28346|0.28346	2.132000|2.132000	0.42083|0.42083	2.689000|2.689000	0.91719|0.91719	0.655000|0.655000	0.94253|0.94253	GGA|GTT	-	superfamily_Fibronectin_type3		0.343	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	G		-	Missense_Mutation	48152268	1	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48152268	G	A	48152268	5	1	191	1	0	0	0	0	0	0	1	0	12812	1362	47	2	1645	2	PTPRJ	11	48152268	Splice_Site	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09	42375751	48152268	86854248	20	13061											
SPTBN2	6712	genome.wustl.edu	37	chr11	66482782	66482782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccatgttttccaagtGcactttctgctccttgagga	10	11	1	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr11:66482782G>A	ENST00000533211.1	-	5	725	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	SPTBN2_ENST00000529997.1_Missense_Mutation_p.H132Y|SPTBN2_ENST00000309996.2_Missense_Mutation_p.H132Y|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	132	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTTTCCAAGTGCACTTTCTGC	0.577																																																	0								ENSG00000173898						183	144	157					11																	66482782		2200	4295	6495	SPTBN2	SO:0001583	missense	0			-	HGNC	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.394C>T	11.37:g.66482782G>A	ENSP00000432568:p.His132Tyr	Somatic	0	85	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	59	25.32	O14872|O14873	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H132Y	ENST00000533211.1	37	c.394	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254330	0.80135	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.59502	0.26;0.26;0.26	4.65	4.65	0.58169	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80966	-0.1146	10	0.72032	D	0.01	.	16.4528	0.83997	0.0:0.0:1.0:0.0	.	132	O15020	SPTN2_HUMAN	Y	132	ENSP00000432568:H132Y;ENSP00000311489:H132Y;ENSP00000433593:H132Y	ENSP00000311489:H132Y	H	-	1	0	SPTBN2	66239358	1.000000	0.71417	0.959000	0.39883	0.703000	0.40648	9.595000	0.98260	2.417000	0.82017	0.561000	0.74099	CAC	-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.577	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	G	NM_006946	-		66482782	-1	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66482782	G	A	66482782	3	1	191	1	0	0	0	0	1	0	0	0	15127	1319	46	2	6914	2	SPTBN2	11	66482782	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09	18330514	66482782	68523734	21	13062											
WNT5B	81029	genome.wustl.edu	37	chr12	1741866	1741866	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagacccgagatgtttatCatcggtgcccagcccgtgtg	12	12	1	2			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr12:1741866C>T	ENST00000397196.2	+	3	355	c.123C>T	c.(121-123)atC>atT	p.I41I	WNT5B_ENST00000310594.3_Silent_p.I41I|WNT5B_ENST00000542408.1_Silent_p.I41I|WNT5B_ENST00000537031.1_Silent_p.I41I	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	41					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGATGTTTATCATCGGTGCCC	0.567																																																	0								ENSG00000111186						113	118	116					12																	1741866		2203	4300	6503	WNT5B	SO:0001819	synonymous_variant	0			-	HGNC	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.123C>T	12.37:g.1741866C>T		Somatic	0	31	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP							pfam_Wnt,smart_Wnt,prints_Wnt	p.I41	ENST00000397196.2	37	c.123	CCDS8510.1	12																																																																																			-	NULL		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	protein_coding	OTTHUMT00000206747.2	C		-		1741866	1	no_errors	ENST00000310594	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1741866	C	T	1741866	2	4	191	1	0	0	0	0	0	0	0	1	17399	816	29	2		2	WNT5B	12	1741866	Silent	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		1741866	132110029	22	13063											
PTPRR	5801	genome.wustl.edu	37	chr12	71095059	71095059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacaaagggttcaatgttcCccaagctactcatgtccaat	6	12	2	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr12:71095059C>A	ENST00000283228.2	-	7	1504	c.1052G>T	c.(1051-1053)gGg>gTg	p.G351V	PTPRR_ENST00000378778.1_Missense_Mutation_p.G145V|PTPRR_ENST00000342084.4_Missense_Mutation_p.G239V|PTPRR_ENST00000440835.2_Missense_Mutation_p.G106V|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	351					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTCAATGTTCCCCAAGCTACT	0.433																																																	0								ENSG00000153233						132	115	120					12																	71095059		2203	4300	6503	PTPRR	SO:0001583	missense	0			-	HGNC	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1052G>T	12.37:g.71095059C>A	ENSP00000283228:p.Gly351Val	Somatic	0	63	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	54	21.74	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP							pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G351V	ENST00000283228.2	37	c.1052	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373040	0.82573	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.24538	4.02;3.76;4.01;3.97;4.02;1.85	5.59	5.59	0.84812	.	0.000000	0.53938	D	0.000053	T	0.51805	0.1696	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.49244	-0.8960	10	0.72032	D	0.01	-14.6063	19.956	0.97218	0.0:1.0:0.0:0.0	.	200;239;145;351	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	V	106;351;145;239;106;106	ENSP00000391750:G106V;ENSP00000283228:G351V;ENSP00000368054:G145V;ENSP00000339605:G239V;ENSP00000446943:G106V;ENSP00000449616:G106V	ENSP00000283228:G351V	G	-	2	0	PTPRR	69381326	1.000000	0.71417	0.992000	0.48379	0.737000	0.42083	6.911000	0.75746	2.788000	0.95919	0.557000	0.71058	GGG	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5		0.433	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	protein_coding	OTTHUMT00000404485.1	C	NM_002849	-		71095059	-1	no_errors	ENST00000283228	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71095059	C	A	71095059	3	1	191	1	0	0	0	0	1	0	0	0	12818	623	22	3	953	3	PTPRR	12	71095059	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09	69353193	71095059	62756836	23	13064											
KSR2	283455	genome.wustl.edu	37	chr12	118199050	118199050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcgtgccgctgccggggcGatgggggcagggaacggtgg	22	11	0	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr12:118199050G>A	ENST00000339824.5	-	4	1479	c.752C>T	c.(751-753)tCg>tTg	p.S251L	KSR2_ENST00000425217.1_Missense_Mutation_p.S222L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	251	Pro-rich.				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)			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)					CTGCCGGGGCGATGGGGGCAG	0.726																																																	0								ENSG00000171435						22	30	27					12																	118199050		1794	3933	5727	KSR2	SO:0001583	missense	0			-	HGNC	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.752C>T	12.37:g.118199050G>A	ENSP00000339952:p.Ser251Leu	Somatic	0	23	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S251L	ENST00000339824.5	37	c.752		12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034605	0.75617	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.56275	0.47;0.47	5.16	5.16	0.70880	.	0.081487	0.52532	N	0.000064	T	0.48114	0.1482	L	0.44542	1.39	0.47214	D	0.999355	D	0.57571	0.98	P	0.45037	0.467	T	0.41413	-0.9510	10	0.10636	T	0.68	.	18.2313	0.89936	0.0:0.0:1.0:0.0	.	251	Q6VAB6	KSR2_HUMAN	L	222;251	ENSP00000389715:S222L;ENSP00000339952:S251L	ENSP00000339952:S251L	S	-	2	0	KSR2	116683433	1.000000	0.71417	0.861000	0.33841	0.918000	0.54935	7.484000	0.81180	2.385000	0.81259	0.491000	0.48974	TCG	-	NULL		0.726	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	G	NM_173598	-		118199050	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	SNP	0.999	A	A	118199050	G	A	118199050	3	1	191	1	0	0	0	0	1	0	0	0	8584	1059	37	1	2168	1	KSR2	12	118199050	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09	47103991	118199050	15652845	24	13065											
TEP1	7011	genome.wustl.edu	37	chr14	20876097	20876097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctatagggcaggttgaaaGgtctagtcccttagagaaat	13	6	1	2			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr14:20876097G>C	ENST00000262715.5	-	2	542	c.502C>G	c.(502-504)Ctt>Gtt	p.L168V	TEP1_ENST00000556935.1_Missense_Mutation_p.L168V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	168					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGGTTGAAAGGTCTAGTCCC	0.502																																																	0								ENSG00000129566						200	197	198					14																	20876097		2203	4300	6503	TEP1	SO:0001583	missense	0			-	HGNC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.502C>G	14.37:g.20876097G>C	ENSP00000262715:p.Leu168Val	Somatic	0	59	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	A0AUV9	Missense_Mutation	SNP							pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L168V	ENST00000262715.5	37	c.502	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	3.187	-0.166688	0.06461	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.50813	0.87;0.73	3.84	0.913	0.19354	.	1.461800	0.04293	N	0.345955	T	0.33556	0.0867	L	0.29908	0.895	0.09310	N	1	B;B	0.29037	0.231;0.148	B;B	0.22601	0.04;0.018	T	0.22347	-1.0219	10	0.46703	T	0.11	3.0177	4.0555	0.09814	0.2209:0.1953:0.5838:0.0	.	168;168	G3V5X7;Q99973	.;TEP1_HUMAN	V	168	ENSP00000262715:L168V;ENSP00000452574:L168V	ENSP00000262715:L168V	L	-	1	0	TEP1	19945937	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.381000	0.20619	0.194000	0.20326	-0.384000	0.06662	CTT	-	NULL		0.502	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	G	NM_007110	-		20876097	-1	no_errors	ENST00000262715	ensembl	human	known	74_37	missense	SNP	0.000	C	C	20876097	G	C	20876097	3	2	191	1	0	0	0	0	1	0	0	0	15766	1000	35	4	7597	4	TEP1	14	20876097	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09		20876097	86473443	25	13066											
EXD2	55218	genome.wustl.edu	37	chr14	69697224	69697224	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	taatgggcttagcctgaagtCcctcgctgagactgttttga	11	9	0	3			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr14:69697224C>G	ENST00000409018.3	+	4	754	c.626C>G	c.(625-627)tCc>tGc	p.S209C	EXD2_ENST00000409949.1_Missense_Mutation_p.S84C|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409675.1_Missense_Mutation_p.S84C|EXD2_ENST00000449989.1_Missense_Mutation_p.S84C|EXD2_ENST00000409242.1_Missense_Mutation_p.S84C|EXD2_ENST00000312994.5_Missense_Mutation_p.S209C|EXD2_ENST00000409014.1_Missense_Mutation_p.S84C	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	209	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGCCTGAAGTCCCTCGCTGAG	0.433																																																	0								ENSG00000081177						162	153	156					14																	69697224		2203	4300	6503	EXD2	SO:0001583	missense	0			-	HGNC	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.626C>G	14.37:g.69697224C>G	ENSP00000387331:p.Ser209Cys	Somatic	0	45	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP							pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.S209C	ENST00000409018.3	37	c.626	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918738	0.73098	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.33	4.43	0.53597	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.174328	0.52532	D	0.000076	T	0.77205	0.4096	M	0.83774	2.66	0.54753	D	0.999986	D;D	0.69078	0.997;0.992	D;D	0.67382	0.951;0.926	T	0.79626	-0.1725	10	0.72032	D	0.01	-7.3631	10.4882	0.44735	0.0:0.7909:0.1352:0.0739	.	209;84	G5E947;Q9NVH0	.;EXD2_HUMAN	C	209;209;84;84;84;84;209;84;84	ENSP00000387331:S209C;ENSP00000386915:S84C;ENSP00000386762:S84C;ENSP00000386632:S84C;ENSP00000386839:S84C;ENSP00000313140:S209C;ENSP00000409089:S84C;ENSP00000392177:S84C	ENSP00000193422:S209C	S	+	2	0	EXD2	68766977	0.998000	0.40836	0.999000	0.59377	0.881000	0.50899	3.498000	0.53302	2.637000	0.89404	0.655000	0.94253	TCC	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.433	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	protein_coding	OTTHUMT00000335504.1	C		-		69697224	1	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	SNP	1.000	G	G	69697224	C	G	69697224	3	3	191	1	0	0	0	0	1	0	0	0	5300	855	30	4	257	4	EXD2	14	69697224	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09	48821127	69697224	37652316	26	13067											
MEX3B	84206	genome.wustl.edu	37	chr15	82338002	82338007	+	In_Frame_Del	DEL	GCCGCT	GCCGCT	-													ctgctgccgccgccgccgccGccgctgccgttgcgctccag							TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	GCCGCT	GCCGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr15:82338002_82338007delGCCGCT	ENST00000329713.4	-	1	475_480	c.40_45delAGCGGC	c.(40-45)agcggcdel	p.SG14del	MEX3B_ENST00000558133.1_In_Frame_Del_p.SG14del|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	14					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						cgccgccgccgccgctgccgTTGCGC	0.757																																																	0								ENSG00000183496																																			MEX3B	SO:0001651	inframe_deletion	0				HGNC	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.40_45delAGCGGC	15.37:g.82338002_82338007delGCCGCT	ENSP00000329918:p.Ser14_Gly15del	Somatic					0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q4G0W1|Q8IVG2|Q9H0J0	In_Frame_Del	DEL							pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.SG14in_frame_del	ENST00000329713.4	37	c.45_40	CCDS10319.1	15																																																																																			-	NULL		0.757	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	protein_coding	OTTHUMT00000304000.1	GCCGCT	XM_290645			82338007	-1	no_errors	ENST00000329713	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-	-	82338007	GCCGCT	-	82338002	7	5	191	1	0	1	0	1	0	0	0	0	9512	1074	38	0	1672	0	MEX3B	15	82338002	In_Frame_Del	DEL	GCCGCT	TCGA-PC-A5DL-01A-11D-A26G-09		82338002	20193390	27	13068											
OR1D2	4991	genome.wustl.edu	37	chr17	2995908	2995908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtgtagtggagggggCagcagatggccacatagcgg	19	7	0	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr17:2995908C>A	ENST00000331459.1	-	1	382	c.383G>T	c.(382-384)tGc>tTc	p.C128F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	128					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGAGGGGGCAGCAGATGGC	0.557																																																	0								ENSG00000184166						93	98	97					17																	2995908		2203	4300	6503	OR1D2	SO:0001583	missense	0			-	HGNC	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.383G>T	17.37:g.2995908C>A	ENSP00000327585:p.Cys128Phe	Somatic	0	84	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	14	74.07	Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C128F	ENST00000331459.1	37	c.383	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	c	9.278	1.047321	0.19827	.	.	ENSG00000184166	ENST00000331459	T	0.00397	7.57	3.0	0.824	0.18818	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.17800	0.525	0.24871	N	0.992281	B	0.12013	0.005	B	0.18263	0.021	T	0.31888	-0.9927	9	0.52906	T	0.07	.	5.9627	0.19308	0.0:0.5053:0.0:0.4947	.	128	P34982	OR1D2_HUMAN	F	128	ENSP00000327585:C128F	ENSP00000327585:C128F	C	-	2	0	OR1D2	2942658	0.000000	0.05858	0.997000	0.53966	0.973000	0.67179	-0.423000	0.07034	0.013000	0.14918	0.543000	0.68304	TGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.557	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	protein_coding	OTTHUMT00000207207.1	C	NM_002548	-		2995908	-1	no_errors	ENST00000331459	ensembl	human	known	74_37	missense	SNP	0.865	A	A	2995908	C	A	2995908	3	1	191	1	0	0	0	0	1	0	0	0	10955	710	25	3	558	3	OR1D2	17	2995908	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		2995908	78199302	28	13069											
PTPRM	5797	genome.wustl.edu	37	chr18	7955245	7955245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaggtggagtactgcaCggccagtgggagctggaatg	18	8	0	1			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr18:7955245C>T	ENST00000332175.8	+	7	2002	c.965C>T	c.(964-966)aCg>aTg	p.T322M	PTPRM_ENST00000400060.4_Missense_Mutation_p.T322M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T322M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T260M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T109M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	322	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGTACTGCACGGCCAGTGGG	0.552																																																	0								ENSG00000173482						49	47	47					18																	7955245		2203	4300	6503	PTPRM	SO:0001583	missense	0			-	HGNC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.965C>T	18.37:g.7955245C>T	ENSP00000331418:p.Thr322Met	Somatic	0	16	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	5	68.75	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T322M	ENST00000332175.8	37	c.965	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034330	0.54896	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	N	0.12471	0.22	0.80722	D	1	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.97110	0.741;1.0;1.0	T	0.59289	-0.7482	10	0.34782	T	0.22	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	109;322;322	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	322;322;260;109	ENSP00000331418:T322M;ENSP00000382933:T322M;ENSP00000382927:T260M;ENSP00000387608:T109M	ENSP00000331418:T322M	T	+	2	0	PTPRM	7945245	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	ACG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	C		-		7955245	1	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7955245	C	T	7955245	3	4	191	1	0	0	0	0	1	0	0	0	12814	536	19	1	991	1	PTPRM	18	7955245	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		7955245	70122003	29	13070											
FCHO1	23149	genome.wustl.edu	37	chr19	17886885	17886885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacatcaagcctgccccggCccgggctccagcctgcagcc	11	20	1	0			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr19:17886885C>A	ENST00000596536.1	+	16	1380	c.1097C>A	c.(1096-1098)gCc>gAc	p.A366D	FCHO1_ENST00000539407.1_Missense_Mutation_p.A366D|FCHO1_ENST00000595033.1_Missense_Mutation_p.A316D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A366D|FCHO1_ENST00000600676.1_Missense_Mutation_p.A366D|FCHO1_ENST00000597512.1_Missense_Mutation_p.A373D|FCHO1_ENST00000594202.1_Missense_Mutation_p.A366D|FCHO1_ENST00000252771.7_Missense_Mutation_p.A366D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A366D	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	366	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCTGCCCCGGCCCGGGCTCCA	0.697																																																	0								ENSG00000130475						41	44	43					19																	17886885		2203	4299	6502	FCHO1	SO:0001583	missense	0			-	HGNC	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1097C>A	19.37:g.17886885C>A	ENSP00000470731:p.Ala366Asp	Somatic	0	43	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP							pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.A366D	ENST00000596536.1	37	c.1097	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197261	0.38806	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.35605	1.3;1.3;1.3	4.58	4.58	0.56647	.	0.536774	0.19265	N	0.118575	T	0.30727	0.0774	L	0.29908	0.895	0.40553	D	0.981132	P;P	0.42203	0.664;0.773	B;B	0.43274	0.235;0.414	T	0.06862	-1.0803	10	0.33940	T	0.23	-9.7988	12.8696	0.57957	0.0:1.0:0.0:0.0	.	366;366	O14526;O14526-2	FCHO1_HUMAN;.	D	366	ENSP00000252771:A366D;ENSP00000373785:A366D;ENSP00000437978:A366D	ENSP00000252771:A366D	A	+	2	0	FCHO1	17747885	0.995000	0.38212	0.718000	0.30602	0.802000	0.45316	3.762000	0.55250	2.078000	0.62432	0.491000	0.48974	GCC	-	NULL		0.697	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	protein_coding	OTTHUMT00000466946.2	C	NM_015122	-		17886885	1	no_errors	ENST00000252771	ensembl	human	known	74_37	missense	SNP	0.821	A	A	17886885	C	A	17886885	3	1	191	1	0	0	0	0	1	0	0	0	5789	739	26	3	1147	3	FCHO1	19	17886885	Missense_Mutation	SNP	C	TCGA-PC-A5DL-01A-11D-A26G-09		17886885	41242098	30	13071											
XRCC1	7515	genome.wustl.edu	37	chr19	44057586	44057586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttgatccggctgaagaagaGagcccccggcctcagagagt	14	11	1	5			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr19:44057586G>C	ENST00000262887.5	-	6	1115	c.568C>G	c.(568-570)Ctc>Gtc	p.L190V	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.L159V			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	190					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CTGAAGAAGAGAGCCCCCGGC	0.577								Other BER factors																																									0								ENSG00000073050						84	79	81					19																	44057586		2203	4300	6503	XRCC1	SO:0001583	missense	0			-	HGNC	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.568C>G	19.37:g.44057586G>C	ENSP00000262887:p.Leu190Val	Somatic	0	37	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	18	66.04	Q6IBS4|Q9HCB1	Missense_Mutation	SNP							pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L190V	ENST00000262887.5	37	c.568	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148001	0.78001	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03524	3.91;3.9	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	M	0.72894	2.215	0.58432	D	0.999992	P;P	0.51537	0.946;0.92	P;B	0.54026	0.74;0.366	T	0.06588	-1.0818	10	0.28530	T	0.3	-19.9431	16.0189	0.80464	0.0:0.0:1.0:0.0	.	159;190	F5H8D7;P18887	.;XRCC1_HUMAN	V	204;190;159;190	ENSP00000262887:L190V;ENSP00000443671:L159V	ENSP00000262887:L190V	L	-	1	0	XRCC1	48749426	1.000000	0.71417	0.994000	0.49952	0.667000	0.39255	3.582000	0.53921	2.571000	0.86741	0.655000	0.94253	CTC	-	NULL		0.577	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	protein_coding	OTTHUMT00000463194.1	G	NM_006297	-		44057586	-1	no_errors	ENST00000262887	ensembl	human	known	74_37	missense	SNP	1.000	C	C	44057586	G	C	44057586	3	2	191	1	0	0	0	0	1	0	0	0	17459	942	33	4	1381	4	XRCC1	19	44057586	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09	26170701	44057586	15071397	31	13072											
CHRNA4	1137	genome.wustl.edu	37	chr20	61981730	61981730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtccaggaagaccctgcGtacccaggtgggcatggtgt	15	10	0	1	rs142260793		TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr20:61981730G>A	ENST00000370263.4	-	5	1254	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	345					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	AAGACCCTGCGTACCCAGGTG	0.602																																																	0								ENSG00000101204	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	140	99	113		1033	5.2	1	20	dbSNP_134	113	0,8598		0,0,4299	yes	missense	CHRNA4	NM_000744.5	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	345/628	61981730	1,13003	2203	4299	6502	CHRNA4	SO:0001583	missense	0			-	HGNC		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1033C>T	20.37:g.61981730G>A	ENSP00000359285:p.Arg345Cys	Somatic	0	31	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R345C	ENST00000370263.4	37	c.1033	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126035	0.77436	2.27E-4	0.0	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.74315	-0.83	5.15	5.15	0.70609	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.937	D	0.90178	0.4240	10	0.87932	D	0	.	13.509	0.61499	0.0:0.0:0.8038:0.1962	.	274;345	Q4VAQ5;P43681	.;ACHA4_HUMAN	C	251;345;274	ENSP00000359285:R345C	ENSP00000359280:R251C	R	-	1	0	CHRNA4	61452174	1.000000	0.71417	0.990000	0.47175	0.828000	0.46876	4.842000	0.62831	2.390000	0.81377	0.655000	0.94253	CGC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.602	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	protein_coding	OTTHUMT00000080508.3	G		rs142260793		61981730	-1	no_errors	ENST00000370263	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61981730	G	A	61981730	3	1	191	1	0	0	0	0	1	0	0	0	3387	1145	40	1	858	1	CHRNA4	20	61981730	Missense_Mutation	SNP	G	TCGA-PC-A5DL-01A-11D-A26G-09		61981730	1043790	32	13073											
C21orf33	8209	genome.wustl.edu	37	chr21	45556016	45556016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtccctcagatgcacgtgaTtgaccacaccaaggggcagc	11	14	1	3			TCGA-PC-A5DL-01A-11D-A26G-09	TCGA-PC-A5DL-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59863adf-efee-4f78-884f-9947c95acec7	ff5644a0-f09f-46ba-b790-9054b5d61ca3	g.chr21:45556016T>C	ENST00000291577.6	+	3	362	c.269T>C	c.(268-270)aTt>aCt	p.I90T	C21orf33_ENST00000427803.2_Missense_Mutation_p.I90T|C21orf33_ENST00000348499.5_Missense_Mutation_p.I90T|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	90						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		ATGCACGTGATTGACCACACC	0.587																																																	0								ENSG00000160221						85	73	77					21																	45556016		2203	4300	6503	C21orf33	SO:0001583	missense	0			-	HGNC	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.269T>C	21.37:g.45556016T>C	ENSP00000291577:p.Ile90Thr	Somatic	0	26	0		0.701453621520944				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP							pfam_ThiJ/PfpI	p.I90T	ENST00000291577.6	37	c.269	CCDS33580.1	21	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735250	0.89482	.	.	ENSG00000248354;ENSG00000160221;ENSG00000160221;ENSG00000160221;ENSG00000160221	ENST00000433711;ENST00000291577;ENST00000427803;ENST00000348499;ENST00000389690	D;D;T;D	0.82255	-1.59;-1.59;1.51;-1.59	4.93	4.93	0.64822	ThiJ/PfpI (1);	0.227296	0.45606	D	0.000347	D	0.89770	0.6811	M	0.90705	3.14	0.44227	D	0.997065	P;P	0.48911	0.917;0.881	P;P	0.51516	0.543;0.672	D	0.92102	0.5689	10	0.87932	D	0	-14.0867	14.9162	0.70798	0.0:0.0:0.0:1.0	.	90;90	P30042-2;P30042	.;ES1_HUMAN	T	69;90;90;90;63	ENSP00000291577:I90T;ENSP00000396655:I90T;ENSP00000344901:I90T;ENSP00000374340:I63T	ENSP00000415634:I69T	I	+	2	0	C21orf33;AP001055.7	44380444	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	7.604000	0.82830	1.983000	0.57843	0.533000	0.62120	ATT	-	pfam_ThiJ/PfpI		0.587	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C21orf33	protein_coding	OTTHUMT00000195824.1	T	NM_004649	-		45556016	1	no_errors	ENST00000291577	ensembl	human	known	74_37	missense	SNP	1.000	C	C	45556016	T	C	45556016	3	2	191	1	0	0	0	0	1	0	0	0	2127	1493	52	5	279	5	C21orf33	21	45556016	Missense_Mutation	SNP	T	TCGA-PC-A5DL-01A-11D-A26G-09		45556016	2573879	33	13074											
CDA	978	genome.wustl.edu	37	chr1	20915751	20915751	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgtgggggctgccctgctCacccaggaggggagaatctt	15	12	2	1	rs149177918	byFrequency	TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr1:20915751C>T	ENST00000375071.3	+	1	311	c.129C>T	c.(127-129)ctC>ctT	p.L43L	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	43	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CTGCCCTGCTCACCCAGGAGG	0.607																																					Pancreas(74;49 1356 2772 27818 40529)												0								ENSG00000158825	C		2,4404	4.2+/-10.8	0,2,2201	39	39	39		129	4.2	1	1	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	CDA	NM_001785.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		43/147	20915751	2,13004	2203	4300	6503	CDA	SO:0001819	synonymous_variant	0			-	HGNC	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.129C>T	1.37:g.20915751C>T		Somatic	0	61	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74		Silent	SNP							pfam_CMP_dCMP_Zn-bd,pfam_Cyd/dCyd_deaminase_Zn-bd,superfamily_Cytidine_deaminase-like,tigrfam_Cyt_deam_tetra	p.L43	ENST00000375071.3	37	c.129	CCDS210.1	1																																																																																			-	pfam_CMP_dCMP_Zn-bd,pfam_Cyd/dCyd_deaminase_Zn-bd,superfamily_Cytidine_deaminase-like,tigrfam_Cyt_deam_tetra		0.607	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDA	protein_coding	OTTHUMT00000007965.1	C	NM_001785	rs149177918		20915751	1	no_errors	ENST00000375071	ensembl	human	known	74_37	silent	SNP	1.000	T	T	20915751	C	T	20915751	2	4	192	1	0	0	0	0	0	0	0	1	3054	813	29	2		2	CDA	1	20915751	Silent	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09		20915751	228334870	1	13075											
MAGI3	260425	genome.wustl.edu	37	chr1	114184712	114184712	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgctgctacccctgtcAtcaatggacagtcattaacc	7	12	3	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr1:114184712A>T	ENST00000307546.9	+	10	1615	c.1540A>T	c.(1540-1542)Atc>Ttc	p.I514F	MAGI3_ENST00000369611.4_Missense_Mutation_p.I514F|MAGI3_ENST00000369615.1_Missense_Mutation_p.I514F|MAGI3_ENST00000369617.4_Missense_Mutation_p.I539F	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	539	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		TACCCCTGTCATCAATGGACA	0.453																																																	0								ENSG00000081026						184	166	172					1																	114184712		2203	4300	6503	MAGI3	SO:0001583	missense	0			-	HGNC	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.1540A>T	1.37:g.114184712A>T	ENSP00000304604:p.Ile514Phe	Somatic	0	151	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	92	25.81	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.I514F	ENST00000307546.9	37	c.1540	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754151	0.49362	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.15256	2.6;2.44;2.6;2.6	5.37	4.25	0.50352	.	0.043832	0.85682	D	0.000000	T	0.10508	0.0257	L	0.53249	1.67	0.53688	D	0.999975	P;P;P	0.51537	0.946;0.682;0.721	P;B;B	0.46253	0.509;0.22;0.373	T	0.02966	-1.1088	10	0.87932	D	0	-10.5386	7.1295	0.25493	0.7975:0.0:0.0717:0.1308	.	514;514;539	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	F	539;514;514;514	ENSP00000358630:I539F;ENSP00000304604:I514F;ENSP00000358628:I514F;ENSP00000358624:I514F	ENSP00000304604:I514F	I	+	1	0	MAGI3	113986235	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.283000	0.58977	0.992000	0.38840	0.528000	0.53228	ATC	-	NULL		0.453	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	protein_coding	OTTHUMT00000032429.1	A	NM_152900	-		114184712	1	no_errors	ENST00000369611	ensembl	human	known	74_37	missense	SNP	0.997	T	T	114184712	A	T	114184712	3	4	192	1	0	0	0	0	1	0	0	0	9194	217	8	5	1578	5	MAGI3	1	114184712	Missense_Mutation	SNP	A	TCGA-PC-A5DN-01A-12D-A27P-09	93268961	114184712	135065909	2	13076											
RSBN1	54665	genome.wustl.edu	37	chr1	114320413	114320413	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcggtaggtgccacaGcagtatgtcctgttgaccta	11	12	0	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr1:114320413G>T	ENST00000261441.5	-	3	1458	c.1395C>A	c.(1393-1395)tgC>tgA	p.C465*		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	465						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		AGGTGCCACAGCAGTATGTCC	0.383																																																	0								ENSG00000081019						54	51	52					1																	114320413		2203	4300	6503	RSBN1	SO:0001587	stop_gained	0			-	HGNC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1395C>A	1.37:g.114320413G>T	ENSP00000261441:p.Cys465*	Somatic	0	45	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Nonsense_Mutation	SNP							NULL	p.C465*	ENST00000261441.5	37	c.1395	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.851652	0.97023	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.46	1.51	0.23008	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-6.1213	9.7679	0.40572	0.2758:0.0:0.7242:0.0	.	.	.	.	X	465	.	ENSP00000261441:C465X	C	-	3	2	RSBN1	114121936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.494000	0.35616	0.379000	0.24794	0.655000	0.94253	TGC	-	NULL		0.383	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	protein_coding	OTTHUMT00000033022.2	G	NM_018364	-		114320413	-1	no_errors	ENST00000261441	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	114320413	G	T	114320413	4	4	192	1	0	0	0	0	0	1	0	0	13704	963	34	3	1033	3	RSBN1	1	114320413	Nonsense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	135701	114320413	134930208	3	13077											
PRG4	10216	genome.wustl.edu	37	chr1	186277602	186277602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactacaacagctaaagaCaagacaacagaaagagactt	7	8	0	5			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr1:186277602C>T	ENST00000445192.2	+	7	2796	c.2751C>T	c.(2749-2751)gaC>gaT	p.D917D	PRG4_ENST00000367484.3_Silent_p.D446D|PRG4_ENST00000367483.4_Silent_p.D876D|PRG4_ENST00000367485.4_Silent_p.D824D|PRG4_ENST00000367486.3_Silent_p.D874D	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	917					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGCTAAAGACAAGACAACAG	0.423																																																	0								ENSG00000116690						202	207	206					1																	186277602		2203	4300	6503	PRG4	SO:0001819	synonymous_variant	0			-	HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2751C>T	1.37:g.186277602C>T		Somatic	0	54	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP							pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.D917	ENST00000445192.2	37	c.2751	CCDS1369.1	1																																																																																			-	NULL		0.423	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	C	NM_005807	-		186277602	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	SNP	0.002	T	T	186277602	C	T	186277602	2	4	192	1	0	0	0	0	0	0	0	1	12486	477	17	2		2	PRG4	1	186277602	Silent	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	71957189	186277602	62973019	4	13078											
APOB	338	genome.wustl.edu	37	chr2	21234572	21234572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttgaaaatgtttttgCtgtcgacacccagaatcatg	9	7	1	3	rs570383610		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr2:21234572C>A	ENST00000233242.1	-	26	5295	c.5168G>T	c.(5167-5169)aGc>aTc	p.S1723I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1723					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)					AATGTTTTTGCTGTCGACACC	0.438													C|||	1	0.000199681	0	0	5008	,	,		22494	0		0	False		,,,				2504	0.001																0								ENSG00000084674						216	204	208					2																	21234572		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.5168G>T	2.37:g.21234572C>A	ENSP00000233242:p.Ser1723Ile	Somatic	0	90	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S1723I	ENST00000233242.1	37	c.5168	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412940	0.62511	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00922	5.54	5.97	5.97	0.96955	.	0.077165	0.56097	D	0.000037	T	0.04182	0.0116	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.29088	-1.0023	10	0.72032	D	0.01	.	14.0212	0.64555	0.0:0.9226:0.0:0.0774	.	1723	P04114	APOB_HUMAN	I	1723	ENSP00000233242:S1723I	ENSP00000233242:S1723I	S	-	2	0	APOB	21088077	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.993000	0.29680	2.834000	0.97654	0.650000	0.86243	AGC	-	NULL		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21234572	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21234572	C	A	21234572	3	1	192	1	0	0	0	0	1	0	0	0	785	797	28	3	8539	3	APOB	2	21234572	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09		21234572	221964801	5	13079											
LRRTM4	80059	genome.wustl.edu	37	chr2	77745759	77745759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatactcttgctctgcGccaggaatctgaaaccctgg	9	13	4	1	rs546452040		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr2:77745759G>A	ENST00000409093.1	-	3	1572	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	LRRTM4_ENST00000409282.1_Silent_p.G413G|LRRTM4_ENST00000409088.3_Silent_p.G412G|LRRTM4_ENST00000409911.1_Silent_p.G413G|LRRTM4_ENST00000409884.1_Silent_p.G412G			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	412					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTGCTCTGCGCCAGGAATCT	0.473													G|||	1	0.000199681	0	0	5008	,	,		17981	0		0	False		,,,				2504	0.001																0								ENSG00000176204						108	106	106					2																	77745759		1895	4120	6015	LRRTM4	SO:0001819	synonymous_variant	0			-	HGNC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1236C>T	2.37:g.77745759G>A		Somatic	0	52	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	Q4FZ98|Q6UXJ7	Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G413	ENST00000409093.1	37	c.1239	CCDS46346.1	2																																																																																			-	NULL		0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	protein_coding	OTTHUMT00000328225.1	G	NM_024993	-		77745759	-1	no_errors	ENST00000409911	ensembl	human	known	74_37	silent	SNP	0.977	A	A	77745759	G	A	77745759	2	1	192	1	0	0	0	0	0	0	0	1	9044	1074	38	1		1	LRRTM4	2	77745759	Silent	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	56511187	77745759	165453614	6	13080											
NXPH2	11249	genome.wustl.edu	37	chr2	139429099	139429099	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggccgggcttgggcaccggaGactgtttaacaaacaggcgc	15	11	0	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr2:139429099G>T	ENST00000272641.3	-	2	294	c.188C>A	c.(187-189)tCt>tAt	p.S63Y		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	63	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGGCACCGGAGACTGTTTAAC	0.567																																																	0								ENSG00000144227						117	117	117					2																	139429099		1950	4134	6084	NXPH2	SO:0001583	missense	0			-	HGNC	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.188C>A	2.37:g.139429099G>T	ENSP00000272641:p.Ser63Tyr	Somatic	0	34	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP							pfam_NXPH/NXPE,pirsf_Neurexophilin	p.S63Y	ENST00000272641.3	37	c.188	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691540	0.68271	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	6.17	0.99709	.	0.162510	0.56097	D	0.000027	T	0.71384	0.3333	L	0.51422	1.61	0.52501	D	0.999954	P	0.48503	0.911	P	0.54210	0.745	T	0.65429	-0.6170	8	.	.	.	-5.5596	20.8794	0.99867	0.0:0.0:1.0:0.0	.	63	O95156	NXPH2_HUMAN	Y	63	.	.	S	-	2	0	NXPH2	139145569	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.632000	0.83247	2.941000	0.99782	0.655000	0.94253	TCT	-	pirsf_Neurexophilin		0.567	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	protein_coding	OTTHUMT00000331901.1	G		-		139429099	-1	no_errors	ENST00000272641	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139429099	G	T	139429099	3	4	192	1	0	0	0	0	1	0	0	0	10793	942	33	3	610	3	NXPH2	2	139429099	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	61683340	139429099	103770274	7	13081											
PARD3B	117583	genome.wustl.edu	37	chr2	206364754	206364754	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgagtatgacctactctGggtaagcgcatgcatgattt	10	8	2	3	rs369457945		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr2:206364754G>T	ENST00000406610.2	+	21	3386	c.3179G>T	c.(3178-3180)tGg>tTg	p.W1060L	PARD3B_ENST00000349953.3_Splice_Site_p.W959L|PARD3B_ENST00000351153.1_Splice_Site_p.W991L|PARD3B_ENST00000358768.2_Splice_Site_p.W998L|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1060					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACCTACTCTGGGTAAGCGCA	0.423																																																	0								ENSG00000116117						204	184	190					2																	206364754		1915	4128	6043	PARD3B	SO:0001630	splice_region_variant	0			-	HGNC	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3180+1G>T	2.37:g.206364754G>T		Somatic	0	43	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP							pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.W1060L	ENST00000406610.2	37	c.3179		2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716977	0.68844	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.13538	2.79;2.58;2.68;2.94	5.59	5.59	0.84812	.	0.000000	0.49916	D	0.000133	T	0.39009	0.1062	M	0.68593	2.085	0.26006	N	0.982052	D;D;D;D	0.89917	0.997;0.999;0.99;1.0	D;D;P;D	0.85130	0.986;0.994;0.843;0.997	T	0.07849	-1.0751	10	0.52906	T	0.07	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	1060;991;998;959	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	L	1060;998;991;959	ENSP00000385848:W1060L;ENSP00000351618:W998L;ENSP00000317261:W991L;ENSP00000340280:W959L	ENSP00000340280:W959L	W	+	2	0	PARD3B	206072999	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.905000	0.63286	2.797000	0.96272	0.563000	0.77884	TGG	-	NULL		0.423	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	protein_coding	OTTHUMT00000335992.1	G	NM_057177	-	Missense_Mutation	206364754	1	no_errors	ENST00000406610	ensembl	human	known	74_37	missense	SNP	1.000	T	T	206364754	G	T	206364754	5	4	192	1	0	0	0	0	0	0	1	0	11446	1362	47	3	3261	3	PARD3B	2	206364754	Splice_Site	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	66935655	206364754	36834619	8	13082											
PTH2R	5746	genome.wustl.edu	37	chr2	209302606	209302606	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatatcagcataggaaaGgtaatggaatttctctattt	8	6	2	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr2:209302606G>A	ENST00000272847.2	+	4	624	c.411G>A	c.(409-411)aaG>aaA	p.K137K	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	137					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GCATAGGAAAGGTAATGGAAT	0.363																																																	0								ENSG00000144407						82	80	81					2																	209302606		2203	4300	6503	PTH2R	SO:0001630	splice_region_variant	0			-	HGNC	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.411+1G>A	2.37:g.209302606G>A		Somatic	0	40	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	Q8N429	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K137	ENST00000272847.2	37	c.411	CCDS2383.1	2																																																																																			-	NULL		0.363	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	protein_coding	OTTHUMT00000256519.2	G	NM_005048	-	Silent	209302606	1	no_errors	ENST00000272847	ensembl	human	known	74_37	silent	SNP	1.000	A	A	209302606	G	A	209302606	5	1	192	1	0	0	0	0	0	0	1	0	12766	1014	35	2	425	2	PTH2R	2	209302606	Splice_Site	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	2937852	209302606	33896767	9	13083											
SCN11A	11280	genome.wustl.edu	37	chr3	38950624	38950624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaagttaatcaggtagaagGagcccaggaaaatgaccaca	10	7	1	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr3:38950624G>A	ENST00000302328.3	-	9	1361	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S388F|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.S388F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S388F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	388					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGTAGAAGGAGCCCAGGAA	0.448																																																	0								ENSG00000168356						165	160	162					3																	38950624		2203	4300	6503	SCN11A	SO:0001583	missense	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1163C>T	3.37:g.38950624G>A	ENSP00000307599:p.Ser388Phe	Somatic	0	62	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S388F	ENST00000302328.3	37	c.1163	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890241	0.91889	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.2	5.2	0.72013	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	H	0.96175	3.78	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99399	1.0927	10	0.87932	D	0	.	18.7324	0.91739	0.0:0.0:1.0:0.0	.	388	Q9UI33	SCNBA_HUMAN	F	388	ENSP00000307599:S388F;ENSP00000400945:S388F;ENSP00000416757:S388F;ENSP00000408028:S388F	ENSP00000307599:S388F	S	-	2	0	SCN11A	38925628	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	9.869000	0.99810	2.431000	0.82371	0.460000	0.39030	TCC	-	pfam_Ion_trans_dom		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	G	NM_014139	-		38950624	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38950624	G	A	38950624	3	1	192	1	0	0	0	0	1	0	0	0	13921	1174	41	2	4284	2	SCN11A	3	38950624	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		38950624	159071806	10	13084											
CCR1	1230	genome.wustl.edu	37	chr3	46245242	46245242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actctcgtaggctttcgtgaGgaaagtgaaggctgcaggtg	15	7	1	2	rs201517958		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr3:46245242G>C	ENST00000296140.3	-	2	688	c.563C>G	c.(562-564)cCt>cGt	p.P188R	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	188					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCTTTCGTGAGGAAAGTGAAG	0.498																																																	0								ENSG00000163823						82	81	82					3																	46245242		2203	4300	6503	CCR1	SO:0001583	missense	0			-	HGNC		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.563C>G	3.37:g.46245242G>C	ENSP00000296140:p.Pro188Arg	Somatic	0	53	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	Q86VA9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.P188R	ENST00000296140.3	37	c.563	CCDS2737.1	3	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175720	0.38413	.	.	ENSG00000163823	ENST00000296140	T	0.38887	1.11	5.31	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000477	T	0.76579	0.4007	H	0.97465	4.01	0.49582	D	0.999804	D	0.89917	1.0	D	0.97110	1.0	D	0.85478	0.1177	10	0.59425	D	0.04	.	15.5644	0.76277	0.0:0.0:0.8608:0.1392	.	188	P32246	CCR1_HUMAN	R	188	ENSP00000296140:P188R	ENSP00000296140:P188R	P	-	2	0	CCR1	46220246	1.000000	0.71417	0.648000	0.29521	0.025000	0.11179	4.965000	0.63708	1.354000	0.45846	0.643000	0.83706	CCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_Chemokine_CCR5		0.498	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	protein_coding	OTTHUMT00000257325.2	G	NM_001295	-		46245242	-1	no_errors	ENST00000296140	ensembl	human	known	74_37	missense	SNP	1.000	C	C	46245242	G	C	46245242	3	2	192	1	0	0	0	0	1	0	0	0	2941	1000	35	4	508	4	CCR1	3	46245242	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	7294618	46245242	151777188	11	13085											
SMARCC1	6599	genome.wustl.edu	37	chr3	47814403	47814403	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccagccagtgttttattGgtaggagcatccgcatgaac	11	10	0	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr3:47814403G>T	ENST00000254480.5	-	2	338	c.219C>A	c.(217-219)acC>acA	p.T73T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	73					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|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)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GTGTTTTATTGGTAGGAGCAT	0.458																																																	0								ENSG00000173473						92	81	85					3																	47814403		2203	4300	6503	SMARCC1	SO:0001819	synonymous_variant	0			-	HGNC	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.219C>A	3.37:g.47814403G>T		Somatic	0	70	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q17RS0|Q6P172|Q8IWH2	Silent	SNP							pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.T73	ENST00000254480.5	37	c.219	CCDS2758.1	3																																																																																			-	NULL		0.458	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	protein_coding	OTTHUMT00000257491.1	G		-		47814403	-1	no_errors	ENST00000254480	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47814403	G	T	47814403	2	4	192	1	0	0	0	0	0	0	0	1	14783	1335	47	3		3	SMARCC1	3	47814403	Silent	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	1569161	47814403	150208027	12	13086											
COL7A1	1294	genome.wustl.edu	37	chr3	48605053	48605053	+	Frame_Shift_Del	DEL	G	G	-													caggggcccccgactggcccGgcacaccaggctccccctgg					rs377015274		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr3:48605053delG	ENST00000328333.8	-	108	8107	c.8000delC	c.(7999-8001)ccgfs	p.P2667fs	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P2635fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2667	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)	p.P2667L(1)		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)		CGACTGGCCCGGCACACCAGG	0.632																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000114270						58	70	66					3																	48605053		2203	4300	6503	COL7A1	SO:0001589	frameshift_variant	0				HGNC	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.8000delC	3.37:g.48605053delG	ENSP00000332371:p.Pro2667fs	Somatic	0	43	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q14054|Q16507	Frame_Shift_Del	DEL							pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P2667fs	ENST00000328333.8	37	c.8000	CCDS2773.1	3																																																																																			-	pfam_Collagen		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	G	NM_000094			48605053	-1	no_errors	ENST00000328333	ensembl	human	known	74_37	frame_shift_del	DEL	0.033	-	-	48605053	G	-	48605053	7	5	192	1	0	1	0	1	0	0	0	0	3706	1116	39	0	878	0	COL7A1	3	48605053	Frame_Shift_Del	DEL	G	TCGA-PC-A5DN-01A-12D-A27P-09	790650	48605053	149417377	13	13087											
TRPC1	7220	genome.wustl.edu	37	chr3	142511714	142511714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggatgcattccatcctacaCtggtggcagaagggcttttt	12	9	0	1	rs371483638		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr3:142511714C>G	ENST00000476941.1	+	9	1972	c.1486C>G	c.(1486-1488)Ctg>Gtg	p.L496V	TRPC1_ENST00000273482.6_Missense_Mutation_p.L462V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	496					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCATCCTACACTGGTGGCAGA	0.383																																																	0								ENSG00000144935						167	150	156					3																	142511714		2203	4300	6503	TRPC1	SO:0001583	missense	0			-	HGNC	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.1486C>G	3.37:g.142511714C>G	ENSP00000419313:p.Leu496Val	Somatic	0	107	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	74	29.52	Q14CE4	Missense_Mutation	SNP							pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L496V	ENST00000476941.1	37	c.1486	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676223	0.47886	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;D	0.82893	-1.32;-1.66	5.28	4.39	0.52855	Ion transport (1);	0.068152	0.64402	D	0.000011	D	0.85301	0.5665	M	0.78916	2.43	0.80722	D	1	B;B	0.28512	0.006;0.214	B;B	0.36989	0.019;0.238	D	0.86130	0.1574	10	0.72032	D	0.01	-21.6413	14.808	0.69971	0.0:0.9268:0.0:0.0732	.	496;462	P48995;P48995-2	TRPC1_HUMAN;.	V	496;462	ENSP00000419313:L496V;ENSP00000273482:L462V	ENSP00000273482:L462V	L	+	1	2	TRPC1	143994404	0.796000	0.28864	0.998000	0.56505	0.998000	0.95712	1.287000	0.33284	2.622000	0.88805	0.557000	0.71058	CTG	-	pfam_Ion_trans_dom,tigrfam_TRP_channel		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	protein_coding	OTTHUMT00000354520.1	C	NM_003304	-		142511714	1	no_errors	ENST00000476941	ensembl	human	known	74_37	missense	SNP	0.996	G	G	142511714	C	G	142511714	3	3	192	1	0	0	0	0	1	0	0	0	16585	564	20	4	1414	4	TRPC1	3	142511714	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	93906661	142511714	55510716	14	13088											
AGTR1	185	genome.wustl.edu	37	chr3	148459421	148459422	+	Frame_Shift_Del	DEL	AT	AT	-													agggctgggcctgaccaaaaAtatactgggtttcctgtttc							TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr3:148459421_148459422delAT	ENST00000497524.1	+	2	990_991	c.599_600delAT	c.(598-600)aatfs	p.N200fs	AGTR1_ENST00000418473.2_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000542281.1_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000404754.2_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000475347.1_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000474935.1_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000461609.1_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000402260.1_Frame_Shift_Del_p.N200fs|AGTR1_ENST00000349243.3_Frame_Shift_Del_p.N200fs	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	200					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTGACCAAAAATATACTGGGTT	0.376																																																	0								ENSG00000144891																																			AGTR1	SO:0001589	frameshift_variant	0				HGNC	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.599_600delAT	3.37:g.148459423_148459424delAT	ENSP00000419422:p.Asn200fs	Somatic	0	24	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	Q13725|Q8TBK4	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt,prints_Brdyknn_rcpt	p.I201fs	ENST00000497524.1	37	c.599_600	CCDS3137.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt		0.376	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	protein_coding	OTTHUMT00000355807.1	AT				148459422	1	no_errors	ENST00000349243	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.996	-	-	148459422	AT	-	148459421	7	5	192	1	0	1	0	1	0	0	0	0	401	101	4	0	601	0	AGTR1	3	148459421	Frame_Shift_Del	DEL	AT	TCGA-PC-A5DN-01A-12D-A27P-09	5947707	148459421	49563009	15	13089											
WDFY3	23001	genome.wustl.edu	37	chr4	85742335	85742335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacctccctgaacacgTctttaaatatgtagtcatgt	7	11	2	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr4:85742335T>C	ENST00000295888.4	-	11	1900	c.1493A>G	c.(1492-1494)gAc>gGc	p.D498G	WDFY3_ENST00000322366.6_Missense_Mutation_p.D498G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	498					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGAACACGTCTTTAAATAT	0.383																																																	0								ENSG00000163625						83	84	84					4																	85742335		2203	4299	6502	WDFY3	SO:0001583	missense	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1493A>G	4.37:g.85742335T>C	ENSP00000295888:p.Asp498Gly	Somatic	0	57	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D498G	ENST00000295888.4	37	c.1493	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	T	24.0	4.488018	0.84854	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.51574	0.7;0.7	5.81	5.81	0.92471	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75039	-0.3458	10	0.66056	D	0.02	.	16.1773	0.81862	0.0:0.0:0.0:1.0	.	498;498	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	G	498	ENSP00000318466:D498G;ENSP00000295888:D498G	ENSP00000295888:D498G	D	-	2	0	WDFY3	85961359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.642000	0.83385	2.217000	0.71921	0.482000	0.46254	GAC	-	superfamily_ARM-type_fold		0.383	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	T	NM_014991	-		85742335	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	SNP	1.000	C	C	85742335	T	C	85742335	3	2	192	1	0	0	0	0	1	0	0	0	17277	1667	58	5	9362	5	WDFY3	4	85742335	Missense_Mutation	SNP	T	TCGA-PC-A5DN-01A-12D-A27P-09		85742335	105411941	16	13090											
SLCO4C1	353189	genome.wustl.edu	37	chr5	101631937	101631937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctggaggggacaaaagcCaagttctcaatacctttggc	13	9	1	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr5:101631937C>A	ENST00000310954.6	-	1	316	c.30G>T	c.(28-30)ttG>ttT	p.L10F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGACAAAAGCCAAGTTCTCAA	0.577																																																	0								ENSG00000173930						71	82	78					5																	101631937		2203	4300	6503	SLCO4C1	SO:0001583	missense	0			-	HGNC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.30G>T	5.37:g.101631937C>A	ENSP00000309741:p.Leu10Phe	Somatic	0	70	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10		Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L10F	ENST00000310954.6	37	c.30	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	C	7.606	0.673814	0.14841	.	.	ENSG00000173930	ENST00000310954	T	0.38887	1.11	4.11	2.25	0.28309	.	1.998710	0.02794	N	0.122407	T	0.31606	0.0802	L	0.36672	1.1	0.23449	N	0.997653	P	0.39576	0.679	B	0.32289	0.143	T	0.22382	-1.0218	10	0.44086	T	0.13	.	5.4578	0.16600	0.1986:0.695:0.0:0.1065	.	10	Q6ZQN7	SO4C1_HUMAN	F	10	ENSP00000309741:L10F	ENSP00000309741:L10F	L	-	3	2	SLCO4C1	101659836	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	0.658000	0.24979	0.342000	0.23796	0.591000	0.81541	TTG	-	NULL		0.577	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	protein_coding	OTTHUMT00000370332.1	C	NM_180991	-		101631937	-1	no_errors	ENST00000310954	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101631937	C	A	101631937	3	1	192	1	0	0	0	0	1	0	0	0	14738	593	21	3	2196	3	SLCO4C1	5	101631937	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09		101631937	79283323	17	13091											
SH3RF2	153769	genome.wustl.edu	37	chr5	145428732	145428732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggggaagtgccaggacGgctggctcaggggcgtctcc	17	12	2	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr5:145428732G>T	ENST00000511217.1	+	6	1298	c.1246G>T	c.(1246-1248)Ggc>Tgc	p.G416C	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G416C			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	416	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCAGGACGGCTGGCTCAG	0.597											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000156463						65	66	65					5																	145428732		2203	4300	6503	SH3RF2	SO:0001583	missense	0			-	HGNC	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1246G>T	5.37:g.145428732G>T	ENSP00000424497:p.Gly416Cys	Somatic	0	73	0	1694	0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	46	37.84	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.G416C	ENST00000511217.1	37	c.1246	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.061270	0.93846	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.43688	0.94;0.94	5.51	5.51	0.81932	Src homology-3 domain (4);	0.070489	0.64402	D	0.000018	T	0.77246	0.4102	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85244	0.1040	10	0.87932	D	0	-25.1307	18.1751	0.89759	0.0:0.0:1.0:0.0	.	416	Q8TEC5	SH3R2_HUMAN	C	416	ENSP00000352028:G416C;ENSP00000424497:G416C	ENSP00000352028:G416C	G	+	1	0	SH3RF2	145408925	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.687000	0.98667	2.587000	0.87381	0.484000	0.47621	GGC	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.597	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	protein_coding	OTTHUMT00000372804.1	G	NM_152550	-		145428732	1	no_errors	ENST00000359120	ensembl	human	known	74_37	missense	SNP	1.000	T	T	145428732	G	T	145428732	3	4	192	1	0	0	0	0	1	0	0	0	14267	1116	39	3	1268	3	SH3RF2	5	145428732	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	43796795	145428732	35486528	18	13092											
DOCK2	1794	genome.wustl.edu	37	chr5	169435513	169435513	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttacagctgtggaacaacTattttcatctggcagtggct	9	8	2	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr5:169435513T>A	ENST00000256935.8	+	31	3165	c.3085T>A	c.(3085-3087)Tat>Aat	p.Y1029N	DOCK2_ENST00000520908.1_Missense_Mutation_p.Y521N|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.Y90N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1029	Interaction with CRKL.				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)			GTGGAACAACTATTTTCATCT	0.433																																																	0								ENSG00000134516						103	98	100					5																	169435513		2203	4300	6503	DOCK2	SO:0001583	missense	0			-	HGNC	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.3085T>A	5.37:g.169435513T>A	ENSP00000256935:p.Tyr1029Asn	Somatic	0	64	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	Q2M3I0|Q96AK7	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.Y1029N	ENST00000256935.8	37	c.3085	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695392	0.88830	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.55234	0.53;0.53;0.53	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	P;D	0.80764	0.862;0.994	T	0.82141	-0.0604	10	0.87932	D	0	.	15.622	0.76813	0.0:0.0:0.0:1.0	.	521;1029	E7ERW7;Q92608	.;DOCK2_HUMAN	N	1029;521;90	ENSP00000256935:Y1029N;ENSP00000429283:Y521N;ENSP00000438827:Y90N	ENSP00000256935:Y1029N	Y	+	1	0	DOCK2	169368091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.102000	0.63906	0.533000	0.62120	TAT	-	superfamily_ARM-type_fold,superfamily_Ferritin-like_SF		0.433	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	T	NM_004946	-		169435513	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169435513	T	A	169435513	3	1	192	1	0	0	0	0	1	0	0	0	4689	1522	53	5	3207	5	DOCK2	5	169435513	Missense_Mutation	SNP	T	TCGA-PC-A5DN-01A-12D-A27P-09	24006781	169435513	11479747	19	13093											
OR2V2	285659	genome.wustl.edu	37	chr5	180582465	180582465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctactgtggcttgaggaagGtgaaccatttcttctgtgag	12	8	2	3	rs147476494		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr5:180582465G>T	ENST00000328275.1	+	1	523	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGAGGAAGGTGAACCATTT	0.473													g|||	1	0.000199681	8e-04	0	5008	,	,		21435	0		0	False		,,,				2504	0																0								ENSG00000182613						304	293	297					5																	180582465		2203	4300	6503	OR2V2	SO:0001583	missense	0			GMAF=0.0005	HGNC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.523G>T	5.37:g.180582465G>T	ENSP00000332185:p.Val175Leu	Somatic	0	141	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	71	29.70	Q6IFL6|Q8NGV1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V175L	ENST00000328275.1	37	c.523	CCDS4461.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	10.07	1.249558	0.22880	.	.	ENSG00000182613	ENST00000328275	T	0.00107	8.72	3.38	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.296488	0.19003	N	0.125282	T	0.00109	0.0003	N	0.16567	0.415	0.09310	N	1	P	0.43826	0.818	P	0.48089	0.566	T	0.47005	-0.9150	10	0.87932	D	0	.	4.6851	0.12754	0.2628:0.0:0.7372:0.0	.	175	Q96R30	OR2V2_HUMAN	L	175	ENSP00000332185:V175L	ENSP00000332185:V175L	V	+	1	0	OR2V2	180515071	0.000000	0.05858	0.719000	0.30619	0.073000	0.16967	0.156000	0.16382	1.882000	0.54519	0.305000	0.20034	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	protein_coding	OTTHUMT00000253529.1	G		rs147476494		180582465	1	no_errors	ENST00000328275	ensembl	human	known	74_37	missense	SNP	0.071	T	T	180582465	G	T	180582465	3	4	192	1	0	0	0	0	1	0	0	0	11033	1261	44	3	525	3	OR2V2	5	180582465	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	11146952	180582465	332795	20	13094											
ZNF192	7745	genome.wustl.edu	37	chr6	28121130	28121130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaatgtgtgtggtaaaGccttcagttacaggtcagcc	12	7	2	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr6:28121130G>T	ENST00000330236.6	+	6	1256	c.1072G>T	c.(1072-1074)Gcc>Tcc	p.A358S	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.A358S	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	358					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)										GTGTGGTAAAGCCTTCAGTTA	0.468																																																	0								ENSG00000198315						275	269	271					6																	28121130		2203	4300	6503	ZKSCAN8	SO:0001583	missense	0			-	HGNC		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1072G>T	6.37:g.28121130G>T	ENSP00000332750:p.Ala358Ser	Somatic	0	64	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A358S	ENST00000330236.6	37	c.1072	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036918	0.19669	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.35973	1.28;1.28	5.99	5.99	0.97316	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.216541	0.32901	N	0.005506	T	0.23965	0.0580	N	0.16037	0.36	0.80722	D	1	P	0.48162	0.906	P	0.56563	0.801	T	0.03739	-1.1008	10	0.20519	T	0.43	.	14.1308	0.65253	0.0:0.0:0.8497:0.1503	.	358	Q15776	ZN192_HUMAN	S	358	ENSP00000332750:A358S;ENSP00000402948:A358S	ENSP00000332750:A358S	A	+	1	0	ZNF192	28229109	.	.	1.000000	0.80357	0.991000	0.79684	.	.	2.853000	0.98044	0.655000	0.94253	GCC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN8	protein_coding	OTTHUMT00000040178.2	G		-		28121130	1	no_errors	ENST00000330236	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28121130	G	T	28121130	3	4	192	1	0	0	0	0	1	0	0	0	17763	971	34	3	1090	3	ZNF192	6	28121130	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		28121130	142993937	21	13095											
C2	717	genome.wustl.edu	37	chr6	31902066	31902093	+	Splice_Site	DEL	TGGTGGACAGGGTCAGGAATCAGGAGTC	TGGTGGACAGGGTCAGGAATCAGGAGTC	-													caaggagagcgcctccctcaTggtggacagggtcaggaatc					rs201754708|rs587777925|rs572361305|rs9332736	byFrequency	TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	TGGTGGACAGGGTCAGGAATCAGGAGTC	TGGTGGACAGGGTCAGGAATCAGGAGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr6:31902066_31902093delTGGTGGACAGGGTCAGGAATCAGGAGTC	ENST00000299367.5	+	6	1115_1125	c.839_849delTGGTGGACAGGGTCAGGAATCAGGAGTC	c.(838-849)atggtggacagg>a	p.MVDR280fs	CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Frame_Shift_Del_p.MVDRVRNQES280fs|C2_ENST00000442278.2_Splice_Site_p.MVDR148fs|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	280	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		GCCTCCCTCATGGTGGACAGGGTCAGGAATCAGGAGTCTGCCTGCAGC	0.553														10	0.00199681	0	0.0043	5008	,	,		22636	0		0.007	False		,,,				2504	0																0								ENSG00000166278																																			C2	SO:0001630	splice_region_variant	0				HGNC		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.849+1TGGTGGACAGGGTCAGGAATCAGGAGTC>-	6.37:g.31902066_31902093delTGGTGGACAGGGTCAGGAATCAGGAGTC		Somatic					0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Frame_Shift_Del	DEL							pfam_VWF_A,pfam_Peptidase_S1,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.M280fs	ENST00000299367.5	37	c.839_849	CCDS4728.1	6																																																																																			-	pfam_VWF_A,smart_VWF_A,pirsf_Compl_C2_B,pfscan_VWF_A		0.553	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	protein_coding	OTTHUMT00000076379.9	TGGTGGACAGGGTCAGGAATCAGGAGTC			Frame_Shift_Del	31902093	1	no_errors	ENST00000299367	ensembl	human	known	74_37	frame_shift_del	DEL	0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	31902093	TGGTGGACAGGGTCAGGAATCAGGAGTC	-	31902066	8	5	192	1	0	1	0	1	0	0	1	0	2076	1464	51	0	938	0	C2	6	31902066	Splice_Site	DEL	TGGTGGACAGGGTCAGGAATCAGGAGTC	TCGA-PC-A5DN-01A-12D-A27P-09	3780936	31902066	139213001	22	13096											
FAM135A	57579	genome.wustl.edu	37	chr6	71185195	71185195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttgtacaaaaatgaagaGgttgttttaaatgatgttat	8	1	0	3			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr6:71185195G>T	ENST00000418814.2	+	6	854	c.240G>T	c.(238-240)gaG>gaT	p.E80D	FAM135A_ENST00000505868.1_Missense_Mutation_p.E80D|FAM135A_ENST00000457062.2_Missense_Mutation_p.E37D|FAM135A_ENST00000361499.3_Missense_Mutation_p.E80D|FAM135A_ENST00000370479.3_Missense_Mutation_p.E37D|FAM135A_ENST00000505769.1_Missense_Mutation_p.E80D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	80										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAAATGAAGAGGTTGTTTTAA	0.264																																																	0								ENSG00000082269						43	46	45					6																	71185195		2195	4267	6462	FAM135A	SO:0001583	missense	0			-	HGNC	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.240G>T	6.37:g.71185195G>T	ENSP00000410768:p.Glu80Asp	Somatic	0	56	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP							pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.E80D	ENST00000418814.2	37	c.240	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667673	0.67814	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.79352	-1.26;1.96;-1.26;-1.26;1.96;-1.26;-1.26	5.3	-2.29	0.06805	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.48877	1.53	0.29293	N	0.869194	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.83275	0.99;0.978;0.996;0.996	T	0.71237	-0.4652	10	0.36615	T	0.2	.	12.2383	0.54528	0.5852:0.0:0.4148:0.0	.	80;80;80;37	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	D	80;37;80;80;37;80;80	ENSP00000410768:E80D;ENSP00000359510:E37D;ENSP00000423785:E80D;ENSP00000422406:E80D;ENSP00000409201:E37D;ENSP00000354913:E80D;ENSP00000423307:E80D	ENSP00000194672:E80D	E	+	3	2	FAM135A	71241916	0.920000	0.31207	0.992000	0.48379	0.998000	0.95712	0.054000	0.14205	-0.274000	0.09232	0.557000	0.71058	GAG	-	NULL		0.264	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	protein_coding	OTTHUMT00000041137.2	G	NM_020819	-		71185195	1	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	SNP	0.988	T	T	71185195	G	T	71185195	3	4	192	1	0	0	0	0	1	0	0	0	5450	991	35	3	250	3	FAM135A	6	71185195	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	39283129	71185195	99929872	23	13097											
CNR1	1268	genome.wustl.edu	37	chr6	88854824	88854824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatcttctcttggaagGgacttcccctaaaggaagtt	9	10	3	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr6:88854824G>C	ENST00000537554.1	-	2	3732	c.170C>G	c.(169-171)cCc>cGc	p.P57R	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000428600.2_Missense_Mutation_p.P57R|CNR1_ENST00000549890.1_Missense_Mutation_p.P57R|CNR1_ENST00000369499.2_Missense_Mutation_p.P57R|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.P57R|CNR1_ENST00000369501.2_Missense_Mutation_p.P57R|CNR1_ENST00000468898.1_Missense_Mutation_p.P24R	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	57					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTCTTGGAAGGGACTTCCCCT	0.463																																																	0								ENSG00000118432						82	81	81					6																	88854824		2203	4300	6503	CNR1	SO:0001583	missense	0			-	HGNC	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.170C>G	6.37:g.88854824G>C	ENSP00000441046:p.Pro57Arg	Somatic	0	114	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	46	35.21	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.P57R	ENST00000537554.1	37	c.170	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745460	0.30955	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000551417	T;T;T;T;T;T;T	0.76316	-0.88;-0.88;-0.88;-0.88;-0.88;-1.01;-0.88	5.77	5.77	0.91146	.	0.244269	0.36374	N	0.002631	T	0.62454	0.2429	L	0.34521	1.04	0.80722	D	1	P;B	0.36837	0.571;0.18	B;B	0.34452	0.183;0.055	T	0.70274	-0.4917	10	0.87932	D	0	.	18.9897	0.92786	0.0:0.0:1.0:0.0	.	24;57	P21554-3;P21554	.;CNR1_HUMAN	R	57;57;57;57;57;24;57;57	ENSP00000358513:P57R;ENSP00000442689:P57R;ENSP00000441046:P57R;ENSP00000358511:P57R;ENSP00000446819:P57R;ENSP00000420188:P24R;ENSP00000412192:P57R	ENSP00000358511:P57R	P	-	2	0	CNR1	88911543	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	9.056000	0.93881	2.732000	0.93576	0.563000	0.77884	CCC	-	pirsf_Canbinoid_rcpt_1,prints_Canbinoid_rcpt_1		0.463	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	protein_coding	OTTHUMT00000354204.2	G		-		88854824	-1	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	SNP	1.000	C	C	88854824	G	C	88854824	3	2	192	1	0	0	0	0	1	0	0	0	3633	1232	43	4	1252	4	CNR1	6	88854824	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	17669629	88854824	82260243	24	13098											
THSD7A	221981	genome.wustl.edu	37	chr7	11457208	11457208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacatgttcagaagggcCatctgctgtattctgcatgc	9	11	4	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr7:11457208C>T	ENST00000423059.4	-	17	3657	c.3406G>A	c.(3406-3408)Ggc>Agc	p.G1136S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1136	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCAGAAGGGCCATCTGCTGTA	0.408										HNSCC(18;0.044)																																							0								ENSG00000005108						105	100	102					7																	11457208		1891	4109	6000	THSD7A	SO:0001583	missense	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3406G>A	7.37:g.11457208C>T	ENSP00000406482:p.Gly1136Ser	Somatic	0	31	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G1136S	ENST00000423059.4	37	c.3406	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631769	0.87660	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61980	0.06	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.52206	1.635	0.80722	D	1	P	0.37500	0.597	B	0.42882	0.401	T	0.57225	-0.7848	10	0.16896	T	0.51	.	19.0873	0.93209	0.0:1.0:0.0:0.0	.	1136	Q9UPZ6	THS7A_HUMAN	S	1136	ENSP00000406482:G1136S	ENSP00000262042:G1136S	G	-	1	0	THSD7A	11423733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.519000	0.84933	0.655000	0.94253	GGC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.408	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2	-		11457208	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11457208	C	T	11457208	3	4	192	1	0	0	0	0	1	0	0	0	15886	594	21	2	1615	2	THSD7A	7	11457208	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09		11457208	147681455	25	13099											
TMEM168	64418	genome.wustl.edu	37	chr7	112415372	112415372	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaaaattccatttgttGgctaaaagaaatccaaaaca	5	7	1	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr7:112415372G>A	ENST00000312814.6	-	3	1690	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	TMEM168_ENST00000454074.1_Splice_Site_p.P377L|TMEM168_ENST00000480969.1_5'UTR	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	377						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TCCATTTGTTGGCTAAAAGAA	0.343																																																	0								ENSG00000146802						60	55	57					7																	112415372		2203	4300	6503	TMEM168	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1129-1C>T	7.37:g.112415372G>A		Somatic	0	43	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP							superfamily_ConA-like_lec_gl_sf	p.P377L	ENST00000312814.6	37	c.1130	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991471	0.35131	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000418785;ENST00000441474	.	.	.	5.31	2.31	0.28768	.	0.343466	0.36932	N	0.002339	T	0.52435	0.1734	L	0.40543	1.245	0.80722	D	1	B	0.19200	0.034	B	0.19946	0.027	T	0.42965	-0.9420	9	0.33141	T	0.24	-11.7837	14.4204	0.67180	0.0:0.0:0.495:0.505	.	377	Q9H0V1	TM168_HUMAN	L	377;377;17;29	.	ENSP00000323068:P377L	P	-	2	0	TMEM168	112202608	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.778000	0.47726	0.246000	0.21394	0.655000	0.94253	CCA	-	NULL		0.343	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	protein_coding	OTTHUMT00000338696.4	G	NM_022484	-	Missense_Mutation	112415372	-1	no_errors	ENST00000312814	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112415372	G	A	112415372	5	1	192	1	0	0	0	0	0	0	1	0	16090	1362	47	2	975	2	TMEM168	7	112415372	Splice_Site	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	100958164	112415372	46723291	26	13100											
ZFAND1	79752	genome.wustl.edu	37	chr8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttggcacctttccatcGtttacttgctgtttctcctg	6	11	1	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																																	3	Substitution - Nonsense(3)	lung(1)|ovary(1)|prostate(1)						ENSG00000104231						187	158	168					8																	82626245		2203	4299	6502	ZFAND1	SO:0001587	stop_gained	0			-	HGNC		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*	Somatic	0	58	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	30	41.18	E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP							pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	p.R130*	ENST00000220669.5	37	c.388	CCDS6232.1	8	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA	-	NULL		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND1	protein_coding	OTTHUMT00000379739.1	G	NM_024699	-		82626245	-1	no_errors	ENST00000220669	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	82626245	G	A	82626245	4	1	192	1	0	0	0	0	0	1	0	0	17633	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		82626245	63737777	27	13101											
NDRG1	10397	genome.wustl.edu	37	chr8	134260139	134260139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcatccactgcaggcgaGctgtccccaaccaccaacag	9	17	0	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr8:134260139G>T	ENST00000414097.2	-	12	1653	c.786C>A	c.(784-786)agC>agA	p.S262R	NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000522476.1_Missense_Mutation_p.S196R|NDRG1_ENST00000537882.1_Missense_Mutation_p.S181R|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.S192R|NDRG1_ENST00000323851.7_Missense_Mutation_p.S262R|NDRG1_ENST00000518066.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	262					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTGCAGGCGAGCTGTCCCCAA	0.517			T	ERG	prostate																																			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0								ENSG00000104419						105	110	108					8																	134260139		2203	4300	6503	NDRG1	SO:0001583	missense	0			-	HGNC	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.786C>A	8.37:g.134260139G>T	ENSP00000404854:p.Ser262Arg	Somatic	0	44	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP							pfam_Ndr	p.S262R	ENST00000414097.2	37	c.786	CCDS34945.1	8	.	.	.	.	.	.	.	.	.	.	G	3.810	-0.039835	0.07497	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000535532;ENST00000522476	T;T;T;T;T	0.28454	1.61;2.28;1.61;2.28;2.28	5.58	-0.142	0.13448	.	0.717041	0.15085	N	0.281457	T	0.27798	0.0684	L	0.58428	1.81	0.25277	N	0.989464	B	0.22851	0.076	B	0.30179	0.112	T	0.33059	-0.9883	10	0.20046	T	0.44	-0.3047	9.6497	0.39890	0.5369:0.0:0.4631:0.0	.	262	Q92597	NDRG1_HUMAN	R	262;192;262;181;90;196	ENSP00000319977:S262R;ENSP00000347028:S192R;ENSP00000404854:S262R;ENSP00000437443:S181R;ENSP00000427894:S196R	ENSP00000319977:S262R	S	-	3	2	NDRG1	134329321	0.000000	0.05858	0.152000	0.22495	0.087000	0.18053	-0.177000	0.09796	-0.035000	0.13691	-0.258000	0.10820	AGC	-	pfam_Ndr		0.517	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	protein_coding	OTTHUMT00000378805.1	G		-		134260139	-1	no_errors	ENST00000323851	ensembl	human	known	74_37	missense	SNP	0.047	T	T	134260139	G	T	134260139	3	4	192	1	0	0	0	0	1	0	0	0	10253	962	34	3	418	3	NDRG1	8	134260139	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	51633894	134260139	12103883	28	13102											
TRAPPC9	83696	genome.wustl.edu	37	chr8	140998965	140998965	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgtgcaggatgagtgCctcgctgctcctggtgctga	16	12	0	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr8:140998965C>G	ENST00000438773.2	-	19	2912	c.2779G>C	c.(2779-2781)Gca>Cca	p.A927P	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A1025P|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A918P	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	927					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGATGAGTGCCTCGCTGCTC	0.612																																																	0								ENSG00000167632						27	24	25					8																	140998965		1951	3728	5679	TRAPPC9	SO:0001583	missense	0			-	HGNC	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2779G>C	8.37:g.140998965C>G	ENSP00000405060:p.Ala927Pro	Somatic	0	78	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP							pfam_TRAPP_II_complex_Trs120	p.A1025P	ENST00000438773.2	37	c.3073	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.135263|2.135263	0.37728|0.37728	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.173961|.	0.48286|.	D|.	0.000198|.	T|T	0.36054|0.36054	0.0953|0.0953	N|N	0.08118|0.08118	0|0	0.32185|0.32185	N|N	0.57981|0.57981	B;B;B;B|.	0.30937|.	0.301;0.003;0.013;0.256|.	B;B;B;B|.	0.29440|.	0.102;0.002;0.004;0.099|.	T|T	0.39121|0.39121	-0.9629|-0.9629	9|5	0.29301|.	T|.	0.29|.	.|.	17.92|17.92	0.88963|0.88963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1025;927;918;1025|.	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2|.	.;TPPC9_HUMAN;.;.|.	P|A	1025;918;927|770	.|.	ENSP00000373978:A918P|.	A|G	-|-	1|2	0|0	TRAPPC9|TRAPPC9	141068147|141068147	1.000000|1.000000	0.71417|0.71417	0.441000|0.441000	0.26858|0.26858	0.028000|0.028000	0.11728|0.11728	6.960000|6.960000	0.76036|0.76036	2.574000|2.574000	0.86865|0.86865	0.655000|0.655000	0.94253|0.94253	GCA|GGC	-	NULL		0.612	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	protein_coding	OTTHUMT00000377749.1	C	NM_031466	-		140998965	-1	no_errors	ENST00000389328	ensembl	human	known	74_37	missense	SNP	0.997	G	G	140998965	C	G	140998965	3	3	192	1	0	0	0	0	1	0	0	0	16472	739	26	4	687	4	TRAPPC9	8	140998965	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	6738826	140998965	5365057	29	13103											
C9orf46	55848	genome.wustl.edu	37	chr9	5361821	5361822	+	In_Frame_Ins	INS	-	-	ACC													atatttgaggaattcccgagINSaccacgcaatctgcatggcc					rs371386035		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr9:5361821_5361822insACC	ENST00000223864.2	-	4	369_370	c.148_149insGGT	c.(148-150)tct>tGGTct	p.49_50insW	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	49					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											GAATTCCCGAGACCACGCAATC	0.396																																																	0								ENSG00000107020																																			PLGRKT	SO:0001652	inframe_insertion	0				HGNC	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"uncharacterized hematopoietic stem/progenitor cells protein MDS030", "plasminogen receptor with a C-terminal lysine"		"chromosome 9 open reading frame 46"	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.146_148dupGGT	9.37:g.5361822_5361824dupACC	ENSP00000223864:p.Trp49_Trp49dup	Somatic	0	75	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	B2R6W0|Q9NZ44	In_Frame_Ins	INS							pfam_DUF2368	p.50in_frame_insW	ENST00000223864.2	37	c.149_148	CCDS6463.1	9																																																																																			-	pfam_DUF2368		0.396	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGRKT	protein_coding	OTTHUMT00000051626.1	-	NM_018465			5361822	-1	no_errors	ENST00000223864	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	ACC	ACC	5361822	-	ACC	5361821	7	5	192	1	0	1	1	0	0	0	0	0	2486	942	33	0	306	0	C9orf46	9	5361821	In_Frame_Ins	INS	-	TCGA-PC-A5DN-01A-12D-A27P-09		5361821	135851610	30	13104											
CTSL1	1514	genome.wustl.edu	37	chr9	90343553	90343553	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggtgctcttgaaggacaGatgttccggaaaactgggag	14	7	1	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr9:90343553G>A	ENST00000343150.5	+	5	1340	c.450G>A	c.(448-450)caG>caA	p.Q150Q	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.Q150Q|CTSL_ENST00000340342.6_Silent_p.Q150Q			P07711	CATL1_HUMAN	cathepsin L	150					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										TTGAAGGACAGATGTTCCGGA	0.453																																																	0								ENSG00000135047						152	155	154					9																	90343553		2203	4300	6503	CTSL	SO:0001819	synonymous_variant	0			-	HGNC	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.450G>A	9.37:g.90343553G>A		Somatic	0	109	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	59	42.72	Q6IAV1|Q96QJ0	Silent	SNP							pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.Q150	ENST00000343150.5	37	c.450	CCDS6675.1	9																																																																																			-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.453	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	protein_coding	OTTHUMT00000052936.1	G	NM_001912	-		90343553	1	no_errors	ENST00000340342	ensembl	human	known	74_37	silent	SNP	1.000	A	A	90343553	G	A	90343553	2	1	192	1	0	0	0	0	0	0	0	1	4040	933	33	2		2	CTSL1	9	90343553	Silent	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	84981732	90343553	50869878	31	13105											
ASPN	54829	genome.wustl.edu	37	chr9	95236911	95236911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttatattcttacctaaaTctgagcaatgtacaactcgt	5	9	2	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr9:95236911T>G	ENST00000375544.3	-	2	512	c.269A>C	c.(268-270)gAt>gCt	p.D90A	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.D90A|ASPN_ENST00000395538.3_Missense_Mutation_p.D90A|ASPN_ENST00000450139.2_Missense_Mutation_p.D62A	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	90	Cys-rich.|LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CTTACCTAAATCTGAGCAATG	0.323																																																	0								ENSG00000106819						93	86	89					9																	95236911		2203	4300	6503	ASPN	SO:0001583	missense	0			-	HGNC	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.269A>C	9.37:g.95236911T>G	ENSP00000364694:p.Asp90Ala	Somatic	0	36	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.D90A	ENST00000375544.3	37	c.269		9	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421685	0.83559	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	L	0.42529	1.33	0.45490	D	0.998452	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.97945	1.0328	10	0.87932	D	0	.	15.5593	0.76229	0.0:0.0:0.0:1.0	.	90;90	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	A	90;90;90;62	ENSP00000364694:D90A;ENSP00000364693:D90A;ENSP00000378909:D90A;ENSP00000389902:D62A	ENSP00000364693:D90A	D	-	2	0	ASPN	94276732	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.810000	0.75216	2.153000	0.67306	0.528000	0.53228	GAT	-	pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan		0.323	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	protein_coding	OTTHUMT00000053094.1	T	NM_017680	-		95236911	-1	no_errors	ENST00000375544	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95236911	T	G	95236911	3	3	192	1	0	0	0	0	1	0	0	0	1057	1435	50	5	901	5	ASPN	9	95236911	Missense_Mutation	SNP	T	TCGA-PC-A5DN-01A-12D-A27P-09	4893358	95236911	45976520	32	13106											
SUSD1	64420	genome.wustl.edu	37	chr9	114919796	114919797	+	Frame_Shift_Ins	INS	-	-	GAGG													taccaacacactgagtcctcINSccgttccctacaaatccata							TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr9:114919796_114919797insGAGG	ENST00000374270.3	-	2	372_373	c.200_201insCCTC	c.(199-201)gggfs	p.-67fs	SUSD1_ENST00000374263.3_Frame_Shift_Ins_p.-67fs|SUSD1_ENST00000374264.2_Frame_Shift_Ins_p.-67fs	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1							integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACTGAGTCCTCCCGTTCCCTAC	0.436																																																	0								ENSG00000106868																																			SUSD1	SO:0001589	frameshift_variant	0				HGNC	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.200_201insCCTC	9.37:g.114919796_114919797insGAGG	ENSP00000363388:p.Gly67fs	Somatic	0	80	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Frame_Shift_Ins	INS							pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.R68fs	ENST00000374270.3	37	c.201_200	CCDS6783.1	9																																																																																			-	smart_EG-like_dom,pfscan_EG-like_dom		0.436	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	protein_coding	OTTHUMT00000053668.3	-	NM_022486			114919797	-1	no_errors	ENST00000374264	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	GAGG	GAGG	114919797	-	GAGG	114919796	7	5	192	1	0	1	1	0	0	0	0	0	15414	842	30	0	2106	0	SUSD1	9	114919796	Frame_Shift_Ins	INS	-	TCGA-PC-A5DN-01A-12D-A27P-09	19682885	114919796	26293635	33	13107											
MUC2	4583	genome.wustl.edu	37	chr11	1085815	1085815	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcccctgtggcactacGggcgtcacctgctccaaggc	11	16	1	0	rs551062642		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr11:1085815G>T	ENST00000441003.2	+	21	2763	c.2736G>T	c.(2734-2736)acG>acT	p.T912T	MUC2_ENST00000359061.5_Silent_p.T912T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	912	VWFD 3. {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)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGGCACTACGGGCGTCACCT	0.642																																																	0								ENSG00000198788						92	99	96					11																	1085815		2118	4228	6346	MUC2	SO:0001819	synonymous_variant	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2736G>T	11.37:g.1085815G>T		Somatic	0	53	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	38.46	Q14878	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T912	ENST00000441003.2	37	c.2736		11																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1085815	1	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	SNP	0.025	T	T	1085815	G	T	1085815	2	4	192	1	0	0	0	0	0	0	0	1	9977	1103	39	3		3	MUC2	11	1085815	Silent	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		1085815	133920701	34	13108											
OR5M10	390167	genome.wustl.edu	37	chr11	56344717	56344717	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggataagtgaaaggtcagcaGtgtctgagagagcccattaa	13	6	2	3			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr11:56344717G>C	ENST00000526812.2	-	1	546	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	161						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(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AAGGTCAGCAGTGTCTGAGAG	0.478																																																	0								ENSG00000254834						147	143	144					11																	56344717		2018	4190	6208	OR5M10	SO:0001583	missense	0			-	HGNC	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.481C>G	11.37:g.56344717G>C	ENSP00000436004:p.Leu161Val	Somatic	0	53	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B9EIL9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L161V	ENST00000526812.2	37	c.481	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	G	1.927	-0.446993	0.04572	.	.	ENSG00000254834	ENST00000526812	T	0.38722	1.12	4.04	-5.77	0.02369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22513	0.0543	N	0.25332	0.735	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.40251	-0.9573	9	0.08599	T	0.76	.	9.3903	0.38370	0.0:0.2122:0.1537:0.6341	.	161	Q6IEU7	OR5MA_HUMAN	V	161	ENSP00000436004:L161V	ENSP00000436004:L161V	L	-	1	2	OR5M10	56101293	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.908000	0.00700	-0.728000	0.04882	-0.210000	0.12710	CTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.478	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	protein_coding	OTTHUMT00000391609.1	G	NM_001004741	-		56344717	-1	no_errors	ENST00000526812	ensembl	human	known	74_37	missense	SNP	0.000	C	C	56344717	G	C	56344717	3	2	192	1	0	0	0	0	1	0	0	0	11175	1020	36	4	470	4	OR5M10	11	56344717	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	55258902	56344717	78661799	35	13109											
MLL2	8085	genome.wustl.edu	37	chr12	49425666	49425666	+	Silent	SNP	G	G	T													ggccctgcccctagctcctgGagggggcctgtctgtggtcc							TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr12:49425666G>T	ENST00000301067.7	-	39	12821	c.12822C>A	c.(12820-12822)ctC>ctA	p.L4274L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4274	Gln-rich.|Pro-rich.				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)										CTAGCTCCTGGAGGGGGCCTG	0.682																																																	0								ENSG00000167548						30	34	33					12																	49425666		1893	4108	6001	KMT2D	SO:0001819	synonymous_variant	0			-	HGNC	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.12822C>A	12.37:g.49425666G>T		Somatic	0	126	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	74	18.68	O14687	Silent	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L4274	ENST00000301067.7	37	c.12822	CCDS44873.1	12																																																																																			-	NULL		0.682	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	G		-		49425666	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	silent	SNP	0.370	T	T	49425666	G	T	49425666	2	4	192	1	0	0	0	0	0	0	0	1	9623	1161	41	3		3	MLL2	12	49425666	Silent	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		49425666	84426229	36	13110	195	2									
MLL2	8085	genome.wustl.edu	37	chr12	49425667	49425667	+	Missense_Mutation	SNP	A	A	G													gccctgcccctagctcctggAgggggcctgtctgtggtcca							TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr12:49425667A>G	ENST00000301067.7	-	39	12820	c.12821T>C	c.(12820-12822)cTc>cCc	p.L4274P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4274	Gln-rich.|Pro-rich.				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)										TAGCTCCTGGAGGGGGCCTGT	0.687																																																	0								ENSG00000167548						31	35	33					12																	49425667		1894	4108	6002	KMT2D	SO:0001583	missense	0			-	HGNC	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.12821T>C	12.37:g.49425667A>G	ENSP00000301067:p.Leu4274Pro	Somatic	0	127	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	76	22.45	O14687	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L4274P	ENST00000301067.7	37	c.12821	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	A	3.288	-0.145563	0.06627	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	4.93	1.36	0.22044	.	0.257566	0.20727	N	0.086800	T	0.56819	0.2011	N	0.08118	0	0.34435	D	0.698926	B	0.02656	0.0	B	0.04013	0.001	T	0.53892	-0.8374	10	0.87932	D	0	.	2.6079	0.04883	0.4799:0.0:0.3215:0.1986	.	4274	O14686	MLL2_HUMAN	P	4274	ENSP00000301067:L4274P	ENSP00000301067:L4274P	L	-	2	0	MLL2	47711934	0.998000	0.40836	0.800000	0.32199	0.891000	0.51852	0.950000	0.29122	0.433000	0.26313	-0.259000	0.10710	CTC	-	NULL		0.687	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	A		-		49425667	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	SNP	0.378	G	G	49425667	A	G	49425667	3	3	192	1	0	0	0	0	1	0	0	0	9623	304	11	5	3856	5	MLL2	12	49425667	Missense_Mutation	SNP	A	TCGA-PC-A5DN-01A-12D-A27P-09	1	49425667	84426228	37	13111	195	2									
NUAK1	9891	genome.wustl.edu	37	chr12	106460789	106460789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgcgctggcgggcagGgcgattctcctgcaaatcca	15	12	1	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr12:106460789G>A	ENST00000261402.2	-	7	3156	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	593					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCGGGCAGGGCGATTCTCC	0.617																																																	0								ENSG00000074590						28	35	33					12																	106460789		2203	4300	6503	NUAK1	SO:0001583	missense	0			-	HGNC	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1777C>T	12.37:g.106460789G>A	ENSP00000261402:p.Pro593Ser	Somatic	0	46	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	112	8.20	A7MD39|Q96KA8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P593S	ENST00000261402.2	37	c.1777	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402191	0.42613	.	.	ENSG00000074590	ENST00000261402	T	0.74842	-0.88	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000012	T	0.63686	0.2532	L	0.35644	1.08	0.45567	D	0.99851	B	0.31077	0.307	B	0.29176	0.099	T	0.59263	-0.7487	10	0.20519	T	0.43	.	13.5245	0.61586	0.071:0.0:0.929:0.0	.	593	O60285	NUAK1_HUMAN	S	593	ENSP00000261402:P593S	ENSP00000261402:P593S	P	-	1	0	NUAK1	104984919	1.000000	0.71417	0.093000	0.20910	0.962000	0.63368	3.389000	0.52516	2.814000	0.96858	0.563000	0.77884	CCT	-	NULL		0.617	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	protein_coding	OTTHUMT00000405767.2	G	NM_014840	-		106460789	-1	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	SNP	0.910	A	A	106460789	G	A	106460789	3	1	192	1	0	0	0	0	1	0	0	0	10714	1232	43	2	212	2	NUAK1	12	106460789	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	57035122	106460789	27391106	38	13112											
CCDC60	160777	genome.wustl.edu	37	chr12	119968845	119968845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatttgggaactgtgctccCctgacatcgctgtggctatt	12	10	0	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr12:119968845C>A	ENST00000327554.2	+	13	1993	c.1528C>A	c.(1528-1530)Cct>Act	p.P510T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	510										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)		ACTGTGCTCCCCTGACATCGC	0.512																																																	0								ENSG00000183273						142	115	124					12																	119968845		2203	4300	6503	CCDC60	SO:0001583	missense	0			-	HGNC	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.1528C>A	12.37:g.119968845C>A	ENSP00000333374:p.Pro510Thr	Somatic	0	76	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	160	49	76.19		Missense_Mutation	SNP							NULL	p.P510T	ENST00000327554.2	37	c.1528	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272362	0.59649	.	.	ENSG00000183273	ENST00000327554	T	0.72942	-0.7	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	D	0.83626	0.5295	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83764	0.0216	9	.	.	.	-18.0489	16.4195	0.83753	0.0:1.0:0.0:0.0	.	510	Q8IWA6	CCD60_HUMAN	T	510	ENSP00000333374:P510T	.	P	+	1	0	CCDC60	118453228	0.993000	0.37304	0.980000	0.43619	0.377000	0.30045	4.349000	0.59385	2.601000	0.87937	0.655000	0.94253	CCT	-	NULL		0.512	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	C	NM_178499	-		119968845	1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	SNP	0.999	A	A	119968845	C	A	119968845	3	1	192	1	0	0	0	0	1	0	0	0	2833	623	22	3	1578	3	CCDC60	12	119968845	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	13508056	119968845	13883050	39	13113											
RTL1	388015	genome.wustl.edu	37	chr14	101347290	101347290	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatccatcaggtggcgtgggCggggtgggtgggtggctgct	22	7	1	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr14:101347290C>G	ENST00000534062.1	-	1	3894	c.3836G>C	c.(3835-3837)cGc>cCc	p.R1279P	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1279					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTGGCGTGGGCGGGGTGGGTG	0.657																																																	0								ENSG00000254656						15	17	17					14																	101347290		689	1588	2277	RTL1	SO:0001583	missense	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3836G>C	14.37:g.101347290C>G	ENSP00000435342:p.Arg1279Pro	Somatic	1	115	0.86		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	58	20.55	E9PKS8	Missense_Mutation	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.R1279P	ENST00000534062.1	37	c.3836	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172661	0.21704	.	.	ENSG00000254656	ENST00000534062	T	0.27402	1.67	3.37	-2.31	0.06765	.	.	.	.	.	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.21415	-1.0246	9	0.48119	T	0.1	.	1.8084	0.03085	0.3278:0.2679:0.2966:0.1078	.	1279	E9PKS8	.	P	1279	ENSP00000435342:R1279P	ENSP00000435342:R1279P	R	-	2	0	RTL1	100417043	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.745000	0.01831	-0.532000	0.06332	0.655000	0.94253	CGC	-	NULL		0.657	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	C	NM_001134888	-		101347290	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	SNP	0.000	G	G	101347290	C	G	101347290	3	3	192	1	0	0	0	0	1	0	0	0	13732	768	27	4	244	4	RTL1	14	101347290	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09		101347290	6002250	40	13114											
PLA2G4E	123745	genome.wustl.edu	37	chr15	42278120	42278120	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggggcgggtagctggAgttgacaaagaacgcagtgt	19	5	0	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr15:42278120A>T	ENST00000399518.3	-	18	2605	c.2119T>A	c.(2119-2121)Tcc>Acc	p.S707T	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.S678T|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	695	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|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)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGGTAGCTGGAGTTGACAAAG	0.582																																																	0								ENSG00000188089						58	65	63					15																	42278120		2128	4239	6367	PLA2G4E	SO:0001583	missense	0			-	HGNC		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2119T>A	15.37:g.42278120A>T	ENSP00000382434:p.Ser707Thr	Somatic	0	51	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	Q6ZSC0	Missense_Mutation	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.S678T	ENST00000399518.3	37	c.2032	CCDS55962.1	15	.	.	.	.	.	.	.	.	.	.	A	5.883	0.347141	0.11126	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.08458	3.09;3.09	5.72	4.55	0.56014	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.213853	0.40554	N	0.001069	T	0.03305	0.0096	N	0.08118	0	0.29721	N	0.838656	B;B	0.13594	0.007;0.008	B;B	0.16722	0.003;0.016	T	0.38650	-0.9651	10	0.02654	T	1	-36.4	7.0661	0.25154	0.5949:0.2714:0.0:0.1337	.	678;695	C9JK77;Q3MJ16	.;PA24E_HUMAN	T	707;678	ENSP00000382434:S707T;ENSP00000413897:S678T	ENSP00000382434:S707T	S	-	1	0	PLA2G4E	40065412	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.629000	0.37071	2.174000	0.68829	0.533000	0.62120	TCC	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.582	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PLA2G4E	protein_coding	OTTHUMT00000252738.2	A	NM_198442	-		42278120	-1	no_errors	ENST00000413860	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42278120	A	T	42278120	3	4	192	1	0	0	0	0	1	0	0	0	12007	304	11	5	499	5	PLA2G4E	15	42278120	Missense_Mutation	SNP	A	TCGA-PC-A5DN-01A-12D-A27P-09		42278120	60253272	41	13115											
UNC13C	440279	genome.wustl.edu	37	chr15	54307904	54307904	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggttagtgaagaggggtTagaacccttaaatgaaacat	11	4	0	4			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr15:54307904T>G	ENST00000260323.11	+	1	2804	c.2804T>G	c.(2803-2805)tTa>tGa	p.L935*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.L935*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.L935*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	935					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAGAGGGGTTAGAACCCTTA	0.398																																																	0								ENSG00000137766						81	78	79					15																	54307904		1856	4108	5964	UNC13C	SO:0001587	stop_gained	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2804T>G	15.37:g.54307904T>G	ENSP00000260323:p.Leu935*	Somatic	0	59	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L935*	ENST00000260323.11	37	c.2804	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	40	8.013729	0.98610	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.69	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8091	0.34956	0.0:0.1517:0.0:0.8483	.	.	.	.	X	935	.	ENSP00000260323:L935X	L	+	2	0	UNC13C	52095196	0.929000	0.31497	0.949000	0.38748	0.774000	0.43823	1.569000	0.36428	0.995000	0.38917	0.528000	0.53228	TTA	-	NULL		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	T	NM_173166	-		54307904	1	no_errors	ENST00000260323	ensembl	human	known	74_37	nonsense	SNP	0.900	G	G	54307904	T	G	54307904	4	3	192	1	0	0	0	0	0	1	0	0	16993	1764	61	5	2806	5	UNC13C	15	54307904	Nonsense_Mutation	SNP	T	TCGA-PC-A5DN-01A-12D-A27P-09	12029784	54307904	48223488	42	13116											
ACSM2A	123876	genome.wustl.edu	37	chr16	20482862	20482862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtgttttcagttggAcaggcctgcaagcctctgat	11	9	3	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr16:20482862A>G	ENST00000573854.1	+	6	859	c.745A>G	c.(745-747)Aca>Gca	p.T249A	ACSM2A_ENST00000536134.1_Missense_Mutation_p.T21A|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.T170A|ACSM2A_ENST00000219054.6_Missense_Mutation_p.T249A|ACSM2A_ENST00000575690.1_Missense_Mutation_p.T249A|ACSM2A_ENST00000396104.2_Missense_Mutation_p.T249A	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	249					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						TTTCAGTTGGACAGGCCTGCA	0.478																																																	0								ENSG00000183747						128	121	123					16																	20482862		2203	4297	6500	ACSM2A	SO:0001583	missense	0			-	HGNC	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.745A>G	16.37:g.20482862A>G	ENSP00000459451:p.Thr249Ala	Somatic	0	120	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	85	11.46	B3KTT9|O75202	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.T249A	ENST00000573854.1	37	c.745	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	A	8.539	0.872750	0.17322	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	3.51	0.956	0.19608	AMP-dependent synthetase/ligase (1);	0.325827	0.22370	N	0.060957	T	0.28433	0.0703	L	0.27053	0.805	0.26424	N	0.976044	B;B	0.14012	0.008;0.009	B;B	0.19391	0.02;0.025	T	0.11060	-1.0603	10	0.33940	T	0.23	-6.6483	4.5845	0.12275	0.3976:0.1567:0.0:0.4457	.	170;249	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	A	170;249;21;249	ENSP00000392169:T170A;ENSP00000219054:T249A;ENSP00000445082:T21A;ENSP00000379411:T249A	ENSP00000219054:T249A	T	+	1	0	ACSM2A	20390363	0.000000	0.05858	0.479000	0.27329	0.189000	0.23516	-0.645000	0.05409	0.417000	0.25871	-1.078000	0.02229	ACA	-	pfam_AMP-dep_Synth/Lig		0.478	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	protein_coding	OTTHUMT00000436764.1	A	NM_001010845	-		20482862	1	no_errors	ENST00000219054	ensembl	human	known	74_37	missense	SNP	0.138	G	G	20482862	A	G	20482862	3	3	192	1	0	0	0	0	1	0	0	0	183	275	10	5	763	5	ACSM2A	16	20482862	Missense_Mutation	SNP	A	TCGA-PC-A5DN-01A-12D-A27P-09		20482862	69871891	43	13117											
CES1	1066	genome.wustl.edu	37	chr16	55844440	55844440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcacctctgtggttcCgggccacaatcacagatggg	13	12	3	1	rs145088728		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr16:55844440C>T	ENST00000361503.4	-	11	1434	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q	CES1_ENST00000360526.3_Missense_Mutation_p.R436Q|CES1_ENST00000422046.2_Missense_Mutation_p.R434Q			P23141	EST1_HUMAN	carboxylesterase 1	435					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TCTGTGGTTCCGGGCCACAAT	0.507													.|||	1	0.000199681	8e-04	0	5008	,	,		21666	0		0	False		,,,				2504	0				NSCLC(162;1801 2756 42904 52896)												0								ENSG00000198848	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	144	149	147		1304,1307,1301	3.7	0.1	16	dbSNP_134	147	1,8599		0,1,4299	no	missense,missense,missense	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	43,43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	435/568,436/569,434/567	55844440	1,12995	2198	4300	6498	CES1	SO:0001583	missense	0			-	HGNC	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1304G>A	16.37:g.55844440C>T	ENSP00000355193:p.Arg435Gln	Somatic	0	238	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	134	23.86	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R436Q	ENST00000361503.4	37	c.1307	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	17.85	3.490249	0.64074	0.0	1.16E-4	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.09445	3.16;3.16;2.98	4.69	3.72	0.42706	Carboxylesterase, type B (1);	0.222939	0.29924	N	0.010855	T	0.22975	0.0555	L	0.60012	1.86	0.09310	N	1	D;D;D	0.89917	0.995;1.0;0.994	P;D;P	0.64321	0.583;0.924;0.447	T	0.01468	-1.1347	10	0.51188	T	0.08	.	9.3205	0.37962	0.0:0.8949:0.0:0.1051	.	434;435;436	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	Q	436;435;434;300	ENSP00000353720:R436Q;ENSP00000355193:R435Q;ENSP00000390492:R434Q	ENSP00000353720:R436Q	R	-	2	0	CES1	54401941	0.179000	0.23135	0.112000	0.21494	0.209000	0.24338	1.146000	0.31589	2.182000	0.69389	0.456000	0.33151	CGG	-	pfam_CarbesteraseB		0.507	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	protein_coding	OTTHUMT00000433285.1	C	NM_001266	rs145088728		55844440	-1	no_errors	ENST00000360526	ensembl	human	known	74_37	missense	SNP	0.044	T	T	55844440	C	T	55844440	3	4	192	1	0	0	0	0	1	0	0	0	3271	652	23	1	415	1	CES1	16	55844440	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	35361578	55844440	34510313	44	13118											
ROCK1	6093	genome.wustl.edu	37	chr18	18566975	18566975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgagattgcttcagaTcaacgtctagcatggaacac	9	10	4	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr18:18566975T>C	ENST00000399799.2	-	19	3180	c.2240A>G	c.(2239-2241)gAt>gGt	p.D747G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	747	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTGCTTCAGATCAACGTCTAG	0.378																																																	0								ENSG00000067900						148	135	139					18																	18566975		2203	4300	6503	ROCK1	SO:0001583	missense	0			-	HGNC		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2240A>G	18.37:g.18566975T>C	ENSP00000382697:p.Asp747Gly	Somatic	0	86	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.D747G	ENST00000399799.2	37	c.2240	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844963	0.91197	.	.	ENSG00000067900	ENST00000399799	T	0.69040	-0.37	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86381	0.1729	10	0.87932	D	0	.	15.4144	0.74952	0.0:0.0:0.0:1.0	.	747	Q13464	ROCK1_HUMAN	G	747	ENSP00000382697:D747G	ENSP00000382697:D747G	D	-	2	0	ROCK1	16820973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.301000	0.78850	2.217000	0.71921	0.477000	0.44152	GAT	-	pirsf_Rho-assoc_coiled-coil_kin		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	protein_coding	OTTHUMT00000254641.2	T	NM_005406	-		18566975	-1	no_errors	ENST00000399799	ensembl	human	known	74_37	missense	SNP	1.000	C	C	18566975	T	C	18566975	3	2	192	1	0	0	0	0	1	0	0	0	13525	1435	50	5	1884	5	ROCK1	18	18566975	Missense_Mutation	SNP	T	TCGA-PC-A5DN-01A-12D-A27P-09		18566975	59510273	45	13119											
ABCA7	10347	genome.wustl.edu	37	chr19	1063802	1063802	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgcgcggcgcttccTttggaacagccttttggccg	12	16	0	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:1063802T>A	ENST00000263094.6	+	44	6122	c.5891T>A	c.(5890-5892)cTt>cAt	p.L1964H	HMHA1_ENST00000539243.2_5'Flank|ABCA7_ENST00000435683.2_Missense_Mutation_p.L1826H|ABCA7_ENST00000433129.1_Missense_Mutation_p.L1964H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1964	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		CGGCGCTTCCTTTGGAACAGC	0.667																																																	0								ENSG00000064687						26	25	25					19																	1063802		2086	4114	6200	ABCA7	SO:0001583	missense	0			-	HGNC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5891T>A	19.37:g.1063802T>A	ENSP00000263094:p.Leu1964His	Somatic	0	147	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	101	21.71	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1964H	ENST00000263094.6	37	c.5891	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926586	0.52759	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.89415	-2.51;-2.51	3.39	3.39	0.38822	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.95178	0.8437	M	0.93507	3.425	0.42286	D	0.992114	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.95521	0.8594	9	0.87932	D	0	.	10.7647	0.46286	0.0:0.0:0.0:1.0	.	1089;1964	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	H	1964	ENSP00000263094:L1964H;ENSP00000414062:L1964H	ENSP00000263094:L1964H	L	+	2	0	ABCA7	1014802	0.999000	0.42202	0.969000	0.41365	0.108000	0.19459	7.488000	0.81441	1.426000	0.47256	0.260000	0.18958	CTT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	protein_coding	OTTHUMT00000394993.1	T	NM_019112	-		1063802	1	no_errors	ENST00000263094	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1063802	T	A	1063802	3	1	192	1	0	0	0	0	1	0	0	0	37	1609	56	5	6061	5	ABCA7	19	1063802	Missense_Mutation	SNP	T	TCGA-PC-A5DN-01A-12D-A27P-09		1063802	58065181	46	13120											
ZNF77	58492	genome.wustl.edu	37	chr19	2933833	2933833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaaagggcttctctccaGtatgcgtcctcacgtggatt	9	12	3	0			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:2933833G>A	ENST00000314531.4	-	4	1384	c.1292C>T	c.(1291-1293)aCt>aTt	p.T431I		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	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)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCTCCAGTATGCGTCCT	0.517																																																	0								ENSG00000175691						96	80	86					19																	2933833		2203	4300	6503	ZNF77	SO:0001583	missense	0			-	HGNC	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1292C>T	19.37:g.2933833G>A	ENSP00000319053:p.Thr431Ile	Somatic	0	63	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	Q86XJ3|Q9NPP0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T431I	ENST00000314531.4	37	c.1292	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217712	0.79352	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.25749	1.78	2.97	0.53	0.17102	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40094	0.1103	M	0.68728	2.09	0.25255	N	0.989646	D	0.58620	0.983	P	0.56751	0.805	T	0.26258	-1.0108	9	0.87932	D	0	.	10.0037	0.41944	0.0:0.4006:0.5994:0.0	.	431	Q15935	ZNF77_HUMAN	I	225;431	ENSP00000319053:T431I	ENSP00000319053:T431I	T	-	2	0	ZNF77	2884833	0.954000	0.32549	0.001000	0.08648	0.940000	0.58332	1.486000	0.35530	0.077000	0.16863	0.484000	0.47621	ACT	-	pfscan_Znf_C2H2		0.517	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	protein_coding	OTTHUMT00000451924.1	G	NM_021217	-		2933833	-1	no_errors	ENST00000314531	ensembl	human	known	74_37	missense	SNP	0.988	A	A	2933833	G	A	2933833	3	1	192	1	0	0	0	0	1	0	0	0	18149	1029	36	2	349	2	ZNF77	19	2933833	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	1870031	2933833	56195150	47	13121											
GATAD2A	54815	genome.wustl.edu	37	chr19	19576217	19576218	+	In_Frame_Ins	INS	-	-	GAC													ttgaacgggacccaacagagINSgacgatgtggagagcaagaa							TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:19576217_19576218insGAC	ENST00000360315.3	+	2	375_376	c.63_64insGAC	c.(64-66)gac>GACgac	p.22_22D>DD	GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_In_Frame_Ins_p.22_22D>DD|GATAD2A_ENST00000429563.2_5'Flank|GATAD2A_ENST00000252577.5_In_Frame_Ins_p.22_22D>DD|GATAD2A_ENST00000404158.1_In_Frame_Ins_p.22_22D>DD	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	22					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACCCAACAGAGGACGATGTGGA	0.495																																																	0								ENSG00000167491																																			GATAD2A	SO:0001652	inframe_insertion	0				HGNC	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.64_66dupGAC	19.37:g.19576218_19576220dupGAC	ENSP00000353463:p.Asp23dup	Somatic	0	60	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	In_Frame_Ins	INS							pfam_Znf_GATA,pfscan_Znf_GATA	p.23in_frame_insD	ENST00000360315.3	37	c.63_64	CCDS12402.2	19																																																																																			-	NULL		0.495	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	protein_coding	OTTHUMT00000326671.4	-	NM_017660			19576218	1	no_errors	ENST00000358713	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.346	GAC	GAC	19576218	-	GAC	19576217	7	5	192	1	0	1	1	0	0	0	0	0	6262	991	35	0	65	0	GATAD2A	19	19576217	In_Frame_Ins	INS	-	TCGA-PC-A5DN-01A-12D-A27P-09	16642384	19576217	39552766	48	13122											
TSHZ3	57616	genome.wustl.edu	37	chr19	31767730	31767730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctaggtgactgatgtacGtggaaggagtcctgatttgg	14	6	1	3	rs201926359		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:31767730G>T	ENST00000240587.4	-	2	3296	c.2969C>A	c.(2968-2970)aCg>aAg	p.T990K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	990					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)					ACTGATGTACGTGGAAGGAGT	0.483																																																	0								ENSG00000121297																																			TSHZ3	SO:0001583	missense	0			-	HGNC	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.2969C>A	19.37:g.31767730G>T	ENSP00000240587:p.Thr990Lys	Somatic	0	57	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q9H0G6|Q9P254	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.T990K	ENST00000240587.4	37	c.2969	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501813	0.85176	.	.	ENSG00000121297	ENST00000240587	T	0.14391	2.51	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.048920	0.85682	D	0.000000	T	0.33411	0.0862	L	0.42245	1.32	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.00956	-1.1501	10	0.87932	D	0	-24.8423	20.1434	0.98067	0.0:0.0:1.0:0.0	.	990	Q63HK5	TSH3_HUMAN	K	990	ENSP00000240587:T990K	ENSP00000240587:T990K	T	-	2	0	TSHZ3	36459570	1.000000	0.71417	0.980000	0.43619	0.967000	0.64934	9.441000	0.97557	2.760000	0.94817	0.591000	0.81541	ACG	-	smart_Znf_C2H2-like		0.483	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	G	NM_020856	-		31767730	-1	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31767730	G	T	31767730	3	4	192	1	0	0	0	0	1	0	0	0	16632	1145	40	3	280	3	TSHZ3	19	31767730	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	12191513	31767730	27361253	49	13123											
RYR1	6261	genome.wustl.edu	37	chr19	38954158	38954158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcgagcagggctggacCtacggcccggtgaggggctg	18	12	0	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:38954158C>T	ENST00000359596.3	+	21	2673	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	RYR1_ENST00000355481.4_Silent_p.T891T|RYR1_ENST00000360985.3_Silent_p.T891T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	891	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)	AGGGCTGGACCTACGGCCCGG	0.682																																																	0								ENSG00000196218						23	24	23					19																	38954158		2203	4300	6503	RYR1	SO:0001819	synonymous_variant	0			-	HGNC	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.2673C>T	19.37:g.38954158C>T		Somatic	0	87	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.T891	ENST00000359596.3	37	c.2673	CCDS33011.1	19																																																																																			-	pfam_Ryanodine_rcpt,prints_Ryan_recept		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		38954158	1	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	SNP	0.999	T	T	38954158	C	T	38954158	2	4	192	1	0	0	0	0	0	0	0	1	13776	668	24	2		2	RYR1	19	38954158	Silent	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	7186428	38954158	20174825	50	13124											
FCGBP	8857	genome.wustl.edu	37	chr19	40363158	40363158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggctggggatggacatgAggaggtgggcatcgccatca	19	7	1	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:40363158A>G	ENST00000221347.6	-	32	14919	c.14912T>C	c.(14911-14913)cTc>cCc	p.L4971P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4971	VWFD 12. {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)			GATGGACATGAGGAGGTGGGC	0.627																																																	0								ENSG00000090920						40	45	44					19																	40363158		2203	4300	6503	FCGBP	SO:0001583	missense	0			-	HGNC	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.14912T>C	19.37:g.40363158A>G	ENSP00000221347:p.Leu4971Pro	Somatic	0	97	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	77	12.50	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.L4971P	ENST00000221347.6	37	c.14912	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949466	0.18356	.	.	ENSG00000090920	ENST00000221347	T	0.59224	0.28	4.9	4.9	0.64082	von Willebrand factor, type D domain (3);	0.328024	0.24479	U	0.038176	T	0.71333	0.3327	M	0.78456	2.415	0.40552	D	0.981124	P	0.45827	0.867	P	0.58820	0.846	T	0.72944	-0.4138	10	0.42905	T	0.14	.	10.8302	0.46656	1.0:0.0:0.0:0.0	.	4971	Q9Y6R7	FCGBP_HUMAN	P	4971	ENSP00000221347:L4971P	ENSP00000221347:L4971P	L	-	2	0	FCGBP	45054998	0.000000	0.05858	0.968000	0.41197	0.080000	0.17528	0.156000	0.16382	2.069000	0.61940	0.260000	0.18958	CTC	-	pfam_VWF_type-D,smart_VWF_type-D		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	A	NM_003890	-		40363158	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.519	G	G	40363158	A	G	40363158	3	3	192	1	0	0	0	0	1	0	0	0	5780	304	11	5	1325	5	FCGBP	19	40363158	Missense_Mutation	SNP	A	TCGA-PC-A5DN-01A-12D-A27P-09	1409000	40363158	18765825	51	13125											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	192	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-PC-A5DN-01A-12D-A27P-09	810735	41173893	17955090	52	13126											
KLK3	354	genome.wustl.edu	37	chr19	51361292	51361292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctccccagcaaaagcGtgatcttgctgggtcggcac	11	14	1	1	rs148892721		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:51361292G>A	ENST00000326003.2	+	3	255	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	KLK3_ENST00000593997.1_Missense_Mutation_p.V72M|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.V72M	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCAAAAGCGTGATCTTGCT	0.537																																					Colon(185;1767 2023 13025 30120 37630)												0								ENSG00000142515	G	MET/VAL,,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	54	48	50		214,,214	-4.2	0	19	dbSNP_134	50	0,8600		0,0,4300	no	missense,intron,missense	KLK3	NM_001030047.1,NM_001030048.1,NM_001648.2	21,,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,,possibly-damaging	72/239,,72/262	51361292	1,13005	2203	4300	6503	KLK3	SO:0001583	missense	0			-	HGNC	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.214G>A	19.37:g.51361292G>A	ENSP00000314151:p.Val72Met	Somatic	0	50	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V72M	ENST00000326003.2	37	c.214	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	G	6.827	0.521817	0.13005	2.27E-4	0.0	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.89681	-2.55;-2.55	2.09	-4.18	0.03846	.	0.695351	0.11885	N	0.520147	T	0.81356	0.4805	N	0.16368	0.405	0.09310	N	1	P;D	0.53151	0.939;0.958	P;B	0.51324	0.666;0.367	T	0.73864	-0.3848	10	0.87932	D	0	.	5.5939	0.17317	0.3263:0.3509:0.3228:0.0	.	72;72	Q8NCW4;G3XAE3	.;.	M	72	ENSP00000314151:V72M;ENSP00000353829:V72M	ENSP00000314151:V72M	V	+	1	0	KLK3	56053104	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.314000	0.08092	-1.019000	0.03358	-1.321000	0.01291	GTG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.537	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	protein_coding	OTTHUMT00000464067.1	G	NM_145864	rs148892721		51361292	1	no_errors	ENST00000326003	ensembl	human	known	74_37	missense	SNP	0.000	A	A	51361292	G	A	51361292	3	1	192	1	0	0	0	0	1	0	0	0	8407	1145	40	1	228	1	KLK3	19	51361292	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09	10187399	51361292	7767691	53	13127											
KLK13	26085	genome.wustl.edu	37	chr19	51563252	51563252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgggtggggcttctcCggtattcagggtgggggata	19	6	3	0	rs369228780		TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr19:51563252C>T	ENST00000595793.1	-	3	380	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	KLK13_ENST00000596955.1_Missense_Mutation_p.R113Q|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	113	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGGCTTCTCCGGTATTCAGG	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		11641	0		0	False		,,,				2504	0																0								ENSG00000167759	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	91	88	89		338	-2.1	0.9	19		89	0,8600		0,0,4300	no	missense	KLK13	NM_015596.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	113/278	51563252	1,13005	2203	4300	6503	KLK13	SO:0001583	missense	0			-	HGNC		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.338G>A	19.37:g.51563252C>T	ENSP00000470555:p.Arg113Gln	Somatic	0	50	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R113Q	ENST00000595793.1	37	c.338	CCDS12822.1	19	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051855	0.08291	2.27E-4	0.0	ENSG00000167759	ENST00000156476	.	.	.	3.91	-2.09	0.07232	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.652897	0.13325	N	0.396356	T	0.30696	0.0773	N	0.22421	0.69	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.03728	-1.1009	9	0.45353	T	0.12	.	4.3789	0.11284	0.1819:0.4569:0.0:0.3612	.	113;113	B5BUM9;Q9UKR3	.;KLK13_HUMAN	Q	113	.	ENSP00000156476:R113Q	R	-	2	0	KLK13	56255064	0.968000	0.33430	0.947000	0.38551	0.017000	0.09413	0.114000	0.15520	-0.364000	0.08088	-0.806000	0.03193	CGG	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.592	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	protein_coding	OTTHUMT00000464298.2	C	NM_015596	-		51563252	-1	no_errors	ENST00000595793	ensembl	human	known	74_37	missense	SNP	0.925	T	T	51563252	C	T	51563252	3	4	192	1	0	0	0	0	1	0	0	0	8403	652	23	1	507	1	KLK13	19	51563252	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	201960	51563252	7565731	54	13128											
HCK	3055	genome.wustl.edu	37	chr20	30662496	30662496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcccaagcaactatgtcGcccgcgttgactctctggag	9	14	1	1			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chr20:30662496G>A	ENST00000520553.1	+	5	583	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	HCK_ENST00000518730.1_Missense_Mutation_p.A112T|HCK_ENST00000375862.2_Missense_Mutation_p.A133T|HCK_ENST00000375852.2_Missense_Mutation_p.A134T|HCK_ENST00000538448.1_Missense_Mutation_p.A113T|HCK_ENST00000534862.1_Missense_Mutation_p.A114T	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	134	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CAACTATGTCGCCCGCGTTGA	0.547																																																	0								ENSG00000101336						108	104	105					20																	30662496		2203	4300	6503	HCK	SO:0001583	missense	0			-	HGNC	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.337G>A	20.37:g.30662496G>A	ENSP00000429848:p.Ala113Thr	Somatic	0	77	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.A134T	ENST00000520553.1	37	c.400	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777384	0.90195	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	4.98	4.01	0.46588	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	L	0.48935	1.535	0.52099	D	0.999944	D;D	0.64830	0.994;0.981	P;P	0.52189	0.692;0.549	T	0.02150	-1.1205	10	0.72032	D	0.01	.	12.902	0.58130	0.0801:0.0:0.9199:0.0	.	112;134	P08631-3;P08631	.;HCK_HUMAN	T	114;113;133;113;112;134	ENSP00000444986:A114T;ENSP00000441169:A113T;ENSP00000365022:A133T;ENSP00000429848:A113T;ENSP00000427757:A112T;ENSP00000365012:A134T	ENSP00000365012:A134T	A	+	1	0	HCK	30126157	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.807000	0.86032	2.584000	0.87258	0.563000	0.77884	GCC	-	pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.547	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	protein_coding	OTTHUMT00000375751.1	G		-		30662496	1	no_errors	ENST00000375852	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30662496	G	A	30662496	3	1	192	1	0	0	0	0	1	0	0	0	6996	1087	38	1	424	1	HCK	20	30662496	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		30662496	32363024	55	13129											
ACRC	93953	genome.wustl.edu	37	chrX	70823836	70823836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgattcggatgttcccgacGacagcagtgatgattcggaa	12	8	0	3			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chrX:70823836G>T	ENST00000373695.1	+	7	1246	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D237Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	237	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTTCCCGACGACAGCAGTGA	0.537																																																	0								ENSG00000147174						234	201	212					X																	70823836		2203	4299	6502	ACRC	SO:0001583	missense	0			-	HGNC	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.709G>T	X.37:g.70823836G>T	ENSP00000362799:p.Asp237Tyr	Somatic	0	95	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	B9EG62	Missense_Mutation	SNP							pfam_SprT-like_domain,smart_SprT-like_domain	p.D237Y	ENST00000373695.1	37	c.709	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	-	5.231	0.228193	0.09916	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.42513	0.97;0.97	0.131	0.131	0.14755	.	.	.	.	.	T	0.23249	0.0562	N	0.19112	0.55	0.09310	N	1	B	0.21688	0.059	B	0.14578	0.011	T	0.22626	-1.0211	9	0.87932	D	0	.	2.9116	0.05739	2.0E-4:2.0E-4:0.5072:0.4923	.	237	Q96QF7	ACRC_HUMAN	Y	237	ENSP00000362800:D237Y;ENSP00000362799:D237Y	ENSP00000362799:D237Y	D	+	1	0	ACRC	70740561	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.040000	0.03546	0.157000	0.19338	0.158000	0.16466	GAC	-	NULL		0.537	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	protein_coding	OTTHUMT00000081856.1	G		-		70823836	1	no_errors	ENST00000373695	ensembl	human	known	74_37	missense	SNP	0.014	T	T	70823836	G	T	70823836	3	4	192	1	0	0	0	0	1	0	0	0	171	1058	37	3	735	3	ACRC	23	70823836	Missense_Mutation	SNP	G	TCGA-PC-A5DN-01A-12D-A27P-09		70823836	84446724	56	13130											
ATRX	546	genome.wustl.edu	37	chrX	76875866	76875866	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagagatattaactcacactCaattaggttattttgaagtg	7	6	2	2			TCGA-PC-A5DN-01A-12D-A27P-09	TCGA-PC-A5DN-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60581c5a-e89b-4e0e-bb80-20a3b14f4638	680014f0-e224-4d25-9929-02de0f4b2f44	g.chrX:76875866C>G	ENST00000373344.5	-	20	5483	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	ATRX_ENST00000395603.3_Missense_Mutation_p.E1719Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1757	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E1757*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AACTCACACTCAATTAGGTTA	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Nonsense(1)|Unknown(1)	central_nervous_system(1)|bone(1)						ENSG00000085224						79	68	72					X																	76875866		2201	4293	6494	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5269G>C	X.37:g.76875866C>G	ENSP00000362441:p.Glu1757Gln	Somatic	0	153	0		0.61954027126461				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	58	31.40	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1757Q	ENST00000373344.5	37	c.5269	CCDS14434.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438989|4.438989	0.83885|0.83885	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000373344;ENST00000395603|ENST00000400866	D;D|.	0.94828|.	-3.53;-3.53|.	4.57|4.57	4.57|4.57	0.56435|0.56435	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91005|0.91005	0.7171|0.7171	H|H	0.99336|0.99336	4.52|4.52	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	D|D	0.95168|0.95168	0.8287|0.8287	10|5	0.87932|.	D|.	0|.	.|.	16.6124|16.6124	0.84886|0.84886	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1719;1757|.	P46100-4;P46100|.	.;ATRX_HUMAN|.	Q|F	1757;1719|45	ENSP00000362441:E1757Q;ENSP00000378967:E1719Q|.	ENSP00000362441:E1757Q|.	E|L	-|-	1|3	0|2	ATRX|ATRX	76762522|76762522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.459000|7.459000	0.80802|0.80802	1.833000|1.833000	0.53350|0.53350	0.600000|0.600000	0.82982|0.82982	GAG|TTG	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76875866	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	G	G	76875866	C	G	76875866	3	3	192	1	0	0	0	0	1	0	0	0	1208	835	29	4	2273	4	ATRX	23	76875866	Missense_Mutation	SNP	C	TCGA-PC-A5DN-01A-12D-A27P-09	6052030	76875866	78394694	57	13131											
BEND5	79656	genome.wustl.edu	37	chr1	49208335	49208338	+	Frame_Shift_Del	DEL	GGAG	GGAG	-													acttgtccatgacaggcgcaGgagcggggtaataggacgac					rs374644523		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	GGAG	GGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr1:49208335_49208338delGGAG	ENST00000371833.3	-	4	937_940	c.851_854delCTCC	c.(850-855)gctcctfs	p.AP286fs	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	286						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GACAGGCGCAGGAGCGGGGTAATA	0.471																																																	0								ENSG00000162373																																			BEND5	SO:0001589	frameshift_variant	0				HGNC	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.851_854delCTCC	1.37:g.49208335_49208338delGGAG	ENSP00000360899:p.Ala286fs	Somatic	0	45	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	46	32.35	D3DQ27|Q96A62|Q9HAI3	Frame_Shift_Del	DEL							pfam_BEN_domain	p.A284fs	ENST00000371833.3	37	c.854_851	CCDS552.2	1																																																																																			-	NULL		0.471	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	protein_coding	OTTHUMT00000022323.1	GGAG	NM_024603			49208338	-1	no_errors	ENST00000371833	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	49208338	GGAG	-	49208335	7	5	193	1	0	1	0	1	0	0	0	0	1401	1000	35	0	423	0	BEND5	1	49208335	Frame_Shift_Del	DEL	GGAG	TCGA-PC-A5DO-01A-11D-A26G-09		49208335	200042286	1	13132											
ASPM	259266	genome.wustl.edu	37	chr1	197072972	197072972	+	Frame_Shift_Del	DEL	T	T	-													gcttgcaagcaagtagctgcTtttttgacttgcaagaagtt					rs143289232		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr1:197072972delT	ENST00000367409.4	-	18	5665	c.5409delA	c.(5407-5409)aaafs	p.K1803fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1803	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTAGCTGCTTTTTTGACTT	0.353																																																	0								ENSG00000066279						101	102	101					1																	197072972		2203	4299	6502	ASPM	SO:0001589	frameshift_variant	0				HGNC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5409delA	1.37:g.197072972delT	ENSP00000356379:p.Lys1803fs	Somatic	0	48	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL							pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.A1804fs	ENST00000367409.4	37	c.5409	CCDS1389.1	1																																																																																			-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	protein_coding	OTTHUMT00000088256.1	T	NM_018136			197072972	-1	no_errors	ENST00000367409	ensembl	human	known	74_37	frame_shift_del	DEL	0.988	-	-	197072972	T	-	197072972	7	5	193	1	0	1	0	1	0	0	0	0	1056	1606	56	0	5068	0	ASPM	1	197072972	Frame_Shift_Del	DEL	T	TCGA-PC-A5DO-01A-11D-A26G-09	147864637	197072972	52177649	2	13133											
GREB1	9687	genome.wustl.edu	37	chr2	11761063	11761063	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgcctacctgcagttcctCagtgtcctgtccaggatgct	11	13	1	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:11761063C>T	ENST00000381486.2	+	23	4377	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L	GREB1_ENST00000396123.1_Silent_p.L357L|GREB1_ENST00000234142.5_Silent_p.L1359L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1359						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)		TGCAGTTCCTCAGTGTCCTGT	0.527																																					Ovarian(39;850 945 2785 23371 33093)												0								ENSG00000196208						208	209	209					2																	11761063		1991	4165	6156	GREB1	SO:0001819	synonymous_variant	0			-	HGNC		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.4077C>T	2.37:g.11761063C>T		Somatic	0	39	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP							superfamily_P-loop_NTPase	p.L1359	ENST00000381486.2	37	c.4077	CCDS42655.1	2																																																																																			-	superfamily_P-loop_NTPase		0.527	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	C	NM_014668	-		11761063	1	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	SNP	1.000	T	T	11761063	C	T	11761063	2	4	193	1	0	0	0	0	0	0	0	1	6762	813	29	2		2	GREB1	2	11761063	Silent	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		11761063	231438310	3	13134											
RGPD3	653489	genome.wustl.edu	37	chr2	107039543	107039543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgattgaagattcttccGttggaaaggaagcagagaga	13	4	1	5			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:107039543G>A	ENST00000409886.3	-	20	4967	c.4880C>T	c.(4879-4881)aCg>aTg	p.T1627M	RGPD3_ENST00000304514.7_Missense_Mutation_p.T1627M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1627					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGATTCTTCCGTTGGAAAGGA	0.338																																																	0								ENSG00000153165						1	1	1					2																	107039543		64	100	164	RGPD3	SO:0001583	missense	0			-	HGNC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4880C>T	2.37:g.107039543G>A	ENSP00000386588:p.Thr1627Met	Somatic	0	70	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	34	42.37	B8ZZM4	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.T1627M	ENST00000409886.3	37	c.4880	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.124	-1.121815	0.01785	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.39592	1.07;1.07	2.2	0.948	0.19561	.	.	.	.	.	T	0.22399	0.0540	N	0.14661	0.345	0.09310	N	0.999998	D	0.58268	0.982	B	0.42062	0.374	T	0.10567	-1.0624	9	0.29301	T	0.29	-5.2545	6.5164	0.22250	0.0:0.0:0.5265:0.4735	.	1627	A6NKT7	RGPD3_HUMAN	M	1;1627;994;1627	ENSP00000386588:T1627M;ENSP00000303659:T1627M	ENSP00000303659:T1627M	T	-	2	0	RGPD3	106405975	0.613000	0.27009	0.248000	0.24265	0.537000	0.34900	0.942000	0.29017	0.098000	0.17522	0.186000	0.17326	ACG	-	NULL		0.338	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	protein_coding	OTTHUMT00000329975.1	G	XM_929931	-		107039543	-1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	SNP	0.497	A	A	107039543	G	A	107039543	3	1	193	1	0	0	0	0	1	0	0	0	13295	1145	40	1	412	1	RGPD3	2	107039543	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09	95278480	107039543	136159830	4	13135											
MYO7B	4648	genome.wustl.edu	37	chr2	128389232	128389232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcccaccctggagcTcaccgaccagatcttcacac	9	18	3	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:128389232T>A	ENST00000409816.2	+	36	5107	c.5075T>A	c.(5074-5076)cTc>cAc	p.L1692H	MYO7B_ENST00000389524.4_Missense_Mutation_p.L1693H|MYO7B_ENST00000409090.1_Missense_Mutation_p.L545H|MYO7B_ENST00000428314.1_Missense_Mutation_p.L1692H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1692	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCCTGGAGCTCACCGACCAG	0.642																																																	0								ENSG00000169994						48	56	53					2																	128389232		2202	4289	6491	MYO7B	SO:0001583	missense	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5075T>A	2.37:g.128389232T>A	ENSP00000386461:p.Leu1692His	Somatic	0	37	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	Q14786|Q8TEE1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.L1693H	ENST00000409816.2	37	c.5078	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	t	28.3	4.904956	0.92035	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.23	5.23	0.72850	MyTH4 domain (3);	0.079417	0.52532	D	0.000077	D	0.96821	0.8962	M	0.85099	2.735	0.53005	D	0.999968	D	0.89917	1.0	D	0.85130	0.997	D	0.97404	0.9998	10	0.66056	D	0.02	.	15.1267	0.72489	0.0:0.0:0.0:1.0	.	1692	Q6PIF6	MYO7B_HUMAN	H	1693;1692;788;1692;545	ENSP00000374175:L1693H;ENSP00000415090:L1692H;ENSP00000386461:L1692H;ENSP00000386850:L545H	ENSP00000272666:L788H	L	+	2	0	MYO7B	128105702	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.691000	0.84191	1.972000	0.57404	0.460000	0.39030	CTC	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	T	XM_291001	-		128389232	1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128389232	T	A	128389232	3	1	193	1	0	0	0	0	1	0	0	0	10085	1551	54	5	5217	5	MYO7B	2	128389232	Missense_Mutation	SNP	T	TCGA-PC-A5DO-01A-11D-A26G-09	21349689	128389232	114810141	5	13136											
SLC41A3	54946	genome.wustl.edu	37	chr3	125731511	125731511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatttcttcatctggaggGgcaggacgccaggtgcactc	13	10	3	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr3:125731511G>T	ENST00000315891.6	-	9	1290	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	SLC41A3_ENST00000383598.2_Missense_Mutation_p.P325H|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P315H|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P351H|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P234H	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	351						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CATCTGGAGGGGCAGGACGCC	0.512																																																	0								ENSG00000114544						162	156	158					3																	125731511		2203	4300	6503	SLC41A3	SO:0001583	missense	0			-	HGNC		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1052C>A	3.37:g.125731511G>T	ENSP00000326070:p.Pro351His	Somatic	0	44	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP							pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase	p.P351H	ENST00000315891.6	37	c.1052	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037151	0.54896	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.43	5.43	0.79202	MgtE magnesium transporter, integral membrane (1);	0.048341	0.85682	D	0.000000	T	0.63129	0.2485	M	0.88906	2.99	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	0.91635	0.999;0.999;0.999;0.999;0.998	T	0.70153	-0.4950	10	0.72032	D	0.01	-0.0177	16.7188	0.85405	0.0:0.0:1.0:0.0	.	234;351;315;351;325	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	H	351;315;325;342;351;234	ENSP00000353533:P351H;ENSP00000264471:P315H;ENSP00000373092:P325H;ENSP00000326070:P351H;ENSP00000427409:P234H	ENSP00000326070:P351H	P	-	2	0	SLC41A3	127214201	1.000000	0.71417	0.383000	0.26132	0.003000	0.03518	8.609000	0.90898	2.541000	0.85698	0.591000	0.81541	CCC	-	pfam_SLC41_membr_dom		0.512	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	protein_coding	OTTHUMT00000370886.1	G	NM_017836	-		125731511	-1	no_errors	ENST00000315891	ensembl	human	known	74_37	missense	SNP	0.994	T	T	125731511	G	T	125731511	3	4	193	1	0	0	0	0	1	0	0	0	14639	1232	43	3	585	3	SLC41A3	3	125731511	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09		125731511	72290919	6	13137											
KY	339855	genome.wustl.edu	37	chr3	134338098	134338098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcctgagcagctgcaAtgtcatactctatagggcag	9	12	3	1	rs199921236		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr3:134338098A>G	ENST00000423778.2	-	8	663	c.602T>C	c.(601-603)aTt>aCt	p.I201T	KY_ENST00000508956.1_Missense_Mutation_p.I180T|KY_ENST00000508041.1_5'UTR|KY_ENST00000503669.1_Missense_Mutation_p.I201T	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	201					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCAGCTGCAATGTCATACTC	0.572																																																	0								ENSG00000174611	A	THR/ILE	0,4176		0,0,2088	127	128	128		602	3.9	0	3		128	4,8432		0,4,4214	no	missense	KY	NM_178554.4	89	0,4,6302	GG,GA,AA		0.0474,0.0,0.0317	benign	201/662	134338098	4,12608	2088	4218	6306	KY	SO:0001583	missense	0			-	HGNC	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.602T>C	3.37:g.134338098A>G	ENSP00000397598:p.Ile201Thr	Somatic	0	52	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	B7Z1S4|Q6ZT15	Missense_Mutation	SNP							pfam_Transglutaminase-like,smart_Transglutaminase-like	p.I201T	ENST00000423778.2	37	c.602	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401948	0.25291	0.0	4.74E-4	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	T;T;T	0.21031	2.03;2.03;2.03	3.87	3.87	0.44632	.	0.800150	0.10873	N	0.624663	T	0.11196	0.0273	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.18166	0.018;0.026;0.004	B;B;B	0.20955	0.007;0.032;0.008	T	0.24190	-1.0167	10	0.33141	T	0.24	-18.9289	12.8303	0.57742	1.0:0.0:0.0:0.0	.	180;201;201	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	T	180;201;201;201	ENSP00000421297:I180T;ENSP00000397598:I201T;ENSP00000426777:I201T	ENSP00000309520:I201T	I	-	2	0	KY	135820788	0.339000	0.24784	0.015000	0.15790	0.059000	0.15707	6.117000	0.71577	1.629000	0.50426	0.379000	0.24179	ATT	-	pfam_Transglutaminase-like		0.572	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	protein_coding	OTTHUMT00000357320.1	A	NM_178554	rs199921236		134338098	-1	no_errors	ENST00000423778	ensembl	human	known	74_37	missense	SNP	0.066	G	G	134338098	A	G	134338098	3	3	193	1	0	0	0	0	1	0	0	0	8588	101	4	5	1399	5	KY	3	134338098	Missense_Mutation	SNP	A	TCGA-PC-A5DO-01A-11D-A26G-09	8606587	134338098	63684332	7	13138											
CDH12	1010	genome.wustl.edu	37	chr5	21854831	21854831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgaagaatgctgtaaaCgactctggcactgtttccat	8	11	1	2	rs371189490		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr5:21854831C>T	ENST00000382254.1	-	7	1681	c.595G>A	c.(595-597)Gtt>Att	p.V199I	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V199I|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	199	Cadherin 2. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGCTGTAAACGACTCTGGCA	0.403										HNSCC(59;0.17)																																							0								ENSG00000154162	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	123	118	120		595	5.4	1	5		120	0,8600		0,0,4300	no	missense	CDH12	NM_004061.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	199/795	21854831	2,13004	2203	4300	6503	CDH12	SO:0001583	missense	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.595G>A	5.37:g.21854831C>T	ENSP00000371689:p.Val199Ile	Somatic	0	45	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V199I	ENST00000382254.1	37	c.595	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.084797	0.94100	4.54E-4	0.0	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.52983	0.64;0.64	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.053683	0.64402	D	0.000001	T	0.51534	0.1680	N	0.16130	0.375	0.80722	D	1	D	0.57899	0.981	P	0.61397	0.888	T	0.54794	-0.8240	10	0.45353	T	0.12	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	199	P55289	CAD12_HUMAN	I	199	ENSP00000423577:V199I;ENSP00000371689:V199I	ENSP00000371689:V199I	V	-	1	0	CDH12	21890588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.684000	0.91462	0.650000	0.86243	GTT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	C	NM_004061	-		21854831	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21854831	C	T	21854831	3	4	193	1	0	0	0	0	1	0	0	0	3100	536	19	1	1825	1	CDH12	5	21854831	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		21854831	159060429	8	13139											
SEMA6A	57556	genome.wustl.edu	37	chr5	115838004	115838004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcttgtggcccacaaaCaccggatactgttttgtatc	9	12	0	0	rs111683037		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr5:115838004C>T	ENST00000343348.6	-	3	907	c.120G>A	c.(118-120)gtG>gtA	p.V40V	SEMA6A_ENST00000510263.1_Silent_p.V40V|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.V40V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	40	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCCCACAAACACCGGATACT	0.507																																																	0								ENSG00000092421	C		0,4004		0,0,2002	204	198	200		120	5.5	1	5	dbSNP_132	200	1,8367		0,1,4183	no	coding-synonymous	SEMA6A	NM_020796.3		0,1,6185	TT,TC,CC		0.012,0.0,0.0081		40/1031	115838004	1,12371	2002	4184	6186	SEMA6A	SO:0001819	synonymous_variant	0			-	HGNC	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.120G>A	5.37:g.115838004C>T		Somatic	0	11	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50	Q9P2H9	Silent	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.V40	ENST00000343348.6	37	c.120	CCDS47256.1	5																																																																																			-	superfamily_Semap_dom,pfscan_Semap_dom		0.507	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	protein_coding	OTTHUMT00000371270.1	C	NM_020796	-		115838004	-1	no_errors	ENST00000257414	ensembl	human	known	74_37	silent	SNP	1.000	T	T	115838004	C	T	115838004	2	4	193	1	0	0	0	0	0	0	0	1	14047	465	17	2		2	SEMA6A	5	115838004	Silent	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	93983173	115838004	65077256	9	13140											
FAM50B	26240	genome.wustl.edu	37	chr6	3850370	3850370	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcggcagcgggagcaggagCagcggcgcgagcgcaagcgt	20	11	0	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:3850370C>G	ENST00000380274.1	+	1	751	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q109E			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	109						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				ggagcaggagcagcggcGCGA	0.711																																																	0								ENSG00000145945						12	18	16					6																	3850370		2198	4287	6485	FAM50B	SO:0001583	missense	0			-	HGNC	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.325C>G	6.37:g.3850370C>G	ENSP00000369627:p.Gln109Glu	Somatic	0	24	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	45.83	Q5T2L6	Missense_Mutation	SNP							pfam_XAP5	p.Q109E	ENST00000380274.1	37	c.325	CCDS4487.1	6	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158413	0.01686	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.17	4.17	0.49024	.	0.723288	0.12062	N	0.503063	T	0.04815	0.0130	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.20371	-1.0277	9	0.06891	T	0.86	-11.2553	12.2094	0.54371	0.0:1.0:0.0:0.0	.	109	Q9Y247	FA50B_HUMAN	E	109	.	ENSP00000369625:Q109E	Q	+	1	0	FAM50B	3795369	0.764000	0.28473	0.103000	0.21229	0.229000	0.25112	1.323000	0.33701	2.332000	0.79248	0.485000	0.47835	CAG	-	pfam_XAP5		0.711	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM50B	protein_coding	OTTHUMT00000039693.1	C	NM_012135	-		3850370	1	no_errors	ENST00000380272	ensembl	human	novel	74_37	missense	SNP	0.167	G	G	3850370	C	G	3850370	3	3	193	1	0	0	0	0	1	0	0	0	5580	711	25	4	327	4	FAM50B	6	3850370	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		3850370	167264697	10	13141											
LEMD2	221496	genome.wustl.edu	37	chr6	33744825	33744842	+	Splice_Site	DEL	GGACCACGTCTGCAGGAG	GGACCACGTCTGCAGGAG	-													ccagtccacgtaatggtcctGgaccacgtctgcaggagaga					rs552390259		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	GGACCACGTCTGCAGGAG	GGACCACGTCTGCAGGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:33744825_33744842delGGACCACGTCTGCAGGAG	ENST00000293760.5	-	8	1278_1286	c.1259_1267delCTCCTGCAGACGTGGTCC	c.(1258-1269)gctcctgcagac>gac	p.APA420del	LEMD2_ENST00000508327.1_Splice_Site_p.APA118del|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	420					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TAATGGTCCTGGACCACGTCTGCAGGAGAGAGCACACC	0.564																																																	0								ENSG00000161904																																			LEMD2	SO:0001630	splice_region_variant	0				HGNC		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1259-1CTCCTGCAGACGTGGTCC>-	6.37:g.33744825_33744842delGGACCACGTCTGCAGGAG		Somatic					0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DVH5|E7EVT2|Q5T972|Q5T974	Splice_Site	DEL							-	e8-1	ENST00000293760.5	37	c.1259-9_1259-1	CCDS4785.1	6																																																																																			-	-		0.564	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	protein_coding	OTTHUMT00000040209.3	GGACCACGTCTGCAGGAG	XM_166338		In_Frame_Del	33744842	-1	no_errors	ENST00000293760	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.979:1.000:1.000:1.000:1.000:1.000:0.955:0.995:1.000:1.000:0.981:0.209:0.054:0.005:0.007:0.000:0.000	-	-	33744842	GGACCACGTCTGCAGGAG	-	33744825	8	5	193	1	0	1	0	1	0	0	1	0	8722	1357	47	0	252	0	LEMD2	6	33744825	Splice_Site	DEL	GGACCACGTCTGCAGGAG	TCGA-PC-A5DO-01A-11D-A26G-09	29894455	33744825	137370242	11	13142											
EPHA7	2045	genome.wustl.edu	37	chr6	93965643	93965643	+	Frame_Shift_Del	DEL	C	C	-													tgctgttgacaagaatattgCgagctgcaaggtccctgtga							TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:93965643delC	ENST00000369303.4	-	13	2469	c.2285delG	c.(2284-2286)cgcfs	p.R762fs		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	762	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)		AAGAATATTGCGAGCTGCAAG	0.418																																																	0								ENSG00000135333						143	137	139					6																	93965643		2203	4300	6503	EPHA7	SO:0001589	frameshift_variant	0				HGNC	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.2285delG	6.37:g.93965643delC	ENSP00000358309:p.Arg762fs	Somatic	0	32	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Frame_Shift_Del	DEL							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R762fs	ENST00000369303.4	37	c.2285	CCDS5031.1	6																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	C				93965643	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	93965643	C	-	93965643	7	5	193	1	0	1	0	1	0	0	0	0	5174	768	27	0	731	0	EPHA7	6	93965643	Frame_Shift_Del	DEL	C	TCGA-PC-A5DO-01A-11D-A26G-09	60220818	93965643	77149424	12	13143											
CTAGE4	100128553	genome.wustl.edu	37	chr7	143882559	143882559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctttggataaaatggatAggtcaatgccttcagaaatg	9	6	3	1	rs199840651	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr7:143882559A>G	ENST00000486333.1	+	1	2001	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	655				R -> G (in Ref. 3; AAN77609). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TAAAATGGATAGGTCAATGCC	0.383																																																	0								ENSG00000225932						1	1	1					7																	143882559		6	28	34	CTAGE4	SO:0001583	missense	0			-	HGNC	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 4"	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1963A>G	7.37:g.143882559A>G	ENSP00000419539:p.Arg655Gly	Somatic	0	13	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	A8K871|O95046	Missense_Mutation	SNP							superfamily_tRNA-bd_arm	p.R655G	ENST00000486333.1	37	c.1963	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	1.204	-0.631620	0.03584	.	.	ENSG00000225932	ENST00000486333	T	0.38722	1.12	.	.	.	.	.	.	.	.	T	0.04363	0.0120	N	0.00013	-2.935	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	6	0.02654	T	1	.	.	.	.	.	655	Q8IX94	CTGE4_HUMAN	G	655	ENSP00000419539:R655G	ENSP00000419539:R655G	R	+	1	2	CTAGE4	143513492	0.344000	0.24827	0.052000	0.19188	0.052000	0.14988	-0.198000	0.09505	-1.345000	0.02214	-1.352000	0.01234	AGG	-	NULL		0.383	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	protein_coding	OTTHUMT00000349970.1	A	NM_198495	rs199840651		143882559	1	no_errors	ENST00000486333	ensembl	human	known	74_37	missense	SNP	0.062	G	G	143882559	A	G	143882559	3	3	193	1	0	0	0	0	1	0	0	0	3995	411	15	5	1965	5	CTAGE4	7	143882559	Missense_Mutation	SNP	A	TCGA-PC-A5DO-01A-11D-A26G-09		143882559	15256104	13	13144											
DPP6	1804	genome.wustl.edu	37	chr7	154684144	154684144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcttcaggatccaggAcaaactgctgacagtcacag	11	10	2	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr7:154684144A>G	ENST00000377770.3	+	26	2693	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G	DPP6_ENST00000332007.3_Missense_Mutation_p.D789G|DPP6_ENST00000404039.1_Missense_Mutation_p.D787G|DPP6_ENST00000427557.1_Missense_Mutation_p.D744G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	851					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGATCCAGGACAAACTGCTG	0.502																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						135	145	142					7																	154684144		2132	4238	6370	DPP6	SO:0001583	missense	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2552A>G	7.37:g.154684144A>G	ENSP00000367001:p.Asp851Gly	Somatic	0	38	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	18	52.63		Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.D851G	ENST00000377770.3	37	c.2552		7	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581869	0.46006	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.15603	2.44;2.41;2.43;2.44	4.66	4.66	0.58398	.	0.217416	0.38381	N	0.001712	T	0.34716	0.0907	L	0.53249	1.67	0.58432	D	0.999996	P;D;D;D	0.69078	0.61;0.996;0.993;0.997	B;D;P;P	0.64877	0.165;0.93;0.853;0.892	T	0.09662	-1.0664	10	0.72032	D	0.01	-34.1118	14.1169	0.65159	1.0:0.0:0.0:0.0	.	744;789;851;787	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	G	787;851;789;744	ENSP00000385578:D787G;ENSP00000367001:D851G;ENSP00000328226:D789G;ENSP00000397303:D744G	ENSP00000328226:D789G	D	+	2	0	DPP6	154315077	1.000000	0.71417	0.943000	0.38184	0.742000	0.42306	8.326000	0.90010	1.745000	0.51790	0.533000	0.62120	GAC	-	NULL		0.502	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	A	NM_130797	-		154684144	1	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	SNP	0.999	G	G	154684144	A	G	154684144	3	3	193	1	0	0	0	0	1	0	0	0	4732	275	10	5	2770	5	DPP6	7	154684144	Missense_Mutation	SNP	A	TCGA-PC-A5DO-01A-11D-A26G-09	10801585	154684144	4454519	14	13145											
SORBS3	10174	genome.wustl.edu	37	chr8	22424623	22424623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctacatccacaaggaggtgGacaagaactggctggaggga	14	8	1	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr8:22424623G>T	ENST00000240123.7	+	16	1623	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Missense_Mutation_p.D72Y	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	414	Binds to vinculin.|SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAAGGAGGTGGACAAGAACTG	0.597																																																	0								ENSG00000120896						86	81	82					8																	22424623		2203	4300	6503	SORBS3	SO:0001583	missense	0			-	HGNC		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1240G>T	8.37:g.22424623G>T	ENSP00000240123:p.Asp414Tyr	Somatic	0	25	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	13	60.61	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.D414Y	ENST00000240123.7	37	c.1240	CCDS6031.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.304970|5.304970	0.95601|0.95601	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000522721;ENST00000523348|ENST00000521554	T;T;T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22;1.22;1.22|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Src homology-3 domain (3);Variant SH3 (1);|.	0.000000|.	0.52532|.	D|.	0.000073|.	D|D	0.85423|0.85423	0.5693|0.5693	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88060|0.88060	0.2793|0.2793	10|5	0.87932|.	D|.	0|.	-27.2924|-27.2924	16.8192|16.8192	0.85741|0.85741	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	414|.	O60504|.	VINEX_HUMAN|.	Y|V	414;72;72;72;72;72;25|85	ENSP00000240123:D414Y;ENSP00000431128:D72Y;ENSP00000408476:D72Y;ENSP00000429887:D72Y;ENSP00000429764:D72Y;ENSP00000429479:D72Y;ENSP00000428678:D25Y|.	ENSP00000240123:D414Y|.	D|G	+|+	1|2	0|0	SORBS3|SORBS3	22480568|22480568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.325000|9.325000	0.96381|0.96381	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAC|GGA	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain		0.597	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	protein_coding	OTTHUMT00000254647.3	G	NM_005775	-		22424623	1	no_errors	ENST00000240123	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22424623	G	T	22424623	3	4	193	1	0	0	0	0	1	0	0	0	14937	1174	41	3	1298	3	SORBS3	8	22424623	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09		22424623	123939399	15	13146											
LYN	4067	genome.wustl.edu	37	chr8	56912075	56912075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttggaatcctcctatacGaaattgtcacctatgggaaa	7	10	1	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr8:56912075G>A	ENST00000519728.1	+	12	1599	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LYN_ENST00000520220.2_Missense_Mutation_p.E414K	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCTCCTATACGAAATTGTCAC	0.403																																																	0								ENSG00000254087						123	122	122					8																	56912075		2203	4300	6503	LYN	SO:0001583	missense	0			-	HGNC	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1303G>A	8.37:g.56912075G>A	ENSP00000428924:p.Glu435Lys	Somatic	0	30	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	2	88.24	A0AVQ5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E435K	ENST00000519728.1	37	c.1303	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.306420	0.95629	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.94576	-3.46;-3.46	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99793	1.1032	10	0.87932	D	0	.	18.6519	0.91433	0.0:0.0:1.0:0.0	.	505;435	Q6NUK7;P07948	.;LYN_HUMAN	K	435;414	ENSP00000428924:E435K;ENSP00000428424:E414K	ENSP00000428924:E435K	E	+	1	0	LYN	57074629	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.813000	0.99286	2.479000	0.83701	0.655000	0.94253	GAA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.403	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	protein_coding	OTTHUMT00000378155.1	G	NM_002350	-		56912075	1	no_errors	ENST00000519728	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56912075	G	A	56912075	3	1	193	1	0	0	0	0	1	0	0	0	9109	1059	37	1	1345	1	LYN	8	56912075	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09	34487452	56912075	89451947	16	13147											
AKR1C3	8644	genome.wustl.edu	37	chr10	5147847	5147847	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagatggcctagacagaaatCtccactattttaacagtgat	7	8	1	4			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:5147847C>G	ENST00000380554.3	+	8	1559	c.907C>G	c.(907-909)Ctc>Gtc	p.L303V	AKR1C3_ENST00000605149.1_Missense_Mutation_p.L280V|AKR1C3_ENST00000439082.2_Missense_Mutation_p.L184V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	303					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	AGACAGAAATCTCCACTATTT	0.363																																																	0								ENSG00000196139						106	109	108					10																	5147847		2203	4300	6503	AKR1C3	SO:0001583	missense	0			-	HGNC	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.907C>G	10.37:g.5147847C>G	ENSP00000369927:p.Leu303Val	Somatic	0	59	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP							pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L303V	ENST00000380554.3	37	c.907	CCDS7063.1	10	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.797345	0.00617	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.51071	0.72;0.72	2.48	-4.97	0.03029	NADP-dependent oxidoreductase domain (2);	2.064350	0.02725	N	0.114396	T	0.29256	0.0728	L	0.31120	0.905	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.20806	-1.0264	10	0.11485	T	0.65	.	3.9578	0.09398	0.3363:0.3088:0.0:0.3549	.	184;303;303	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	V	184;303	ENSP00000401327:L184V;ENSP00000369927:L303V	ENSP00000369927:L303V	L	+	1	0	AKR1C3	5137847	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-3.382000	0.00490	-2.537000	0.00488	-0.658000	0.03865	CTC	-	superfamily_NADP_OxRdtase_dom		0.363	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C3	protein_coding	OTTHUMT00000046533.2	C	NM_003739	-		5147847	1	no_errors	ENST00000380554	ensembl	human	known	74_37	missense	SNP	0.035	G	G	5147847	C	G	5147847	3	3	193	1	0	0	0	0	1	0	0	0	471	913	32	4	937	4	AKR1C3	10	5147847	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		5147847	130386900	17	13148											
ANKRD26	22852	genome.wustl.edu	37	chr10	27333121	27333121	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatgttttcttagtaggccTaaaaaaaaaaaatacctttc	5	6	1	1	rs113123391	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:27333121T>A	ENST00000376087.4	-	19	2151		c.e19-2		ANKRD26_ENST00000436985.2_Splice_Site|ANKRD26_ENST00000376070.3_Splice_Site	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						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)				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						TTAGTAGGCCTAAAAAAAAAA	0.224																																																	0								ENSG00000107890						22	20	21					10																	27333121		1770	4032	5802	ANKRD26	SO:0001630	splice_region_variant	0			-	HGNC	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.1986-2A>T	10.37:g.27333121T>A		Somatic	0	32	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP							-	e19-2	ENST00000376087.4	37	c.2034-2	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	.	13.41	2.229475	0.39399	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4629	0.50221	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD26	27373127	1.000000	0.71417	0.211000	0.23655	0.299000	0.27559	4.135000	0.57997	1.735000	0.51646	0.254000	0.18369	.	-	-		0.224	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	protein_coding	OTTHUMT00000047296.1	T		-	Intron	27333121	-1	no_errors	ENST00000436985	ensembl	human	known	74_37	splice_site	SNP	0.796	A	A	27333121	T	A	27333121	5	1	193	1	0	0	0	0	0	0	1	0	654	1536	53	5	3212	5	ANKRD26	10	27333121	Splice_Site	SNP	T	TCGA-PC-A5DO-01A-11D-A26G-09	22185274	27333121	108201626	18	13149											
NOLC1	9221	genome.wustl.edu	37	chr10	103920666	103920668	+	In_Frame_Del	DEL	TTC	TTC	-													aaggctgagagcagcaacagTtcttcttctgatgactccag							TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:103920666_103920668delTTC	ENST00000605788.1	+	10	1792_1794	c.1557_1559delTTC	c.(1555-1560)agttct>agt	p.519_520SS>S	NOLC1_ENST00000603742.1_In_Frame_Del_p.238_239SS>S|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000405356.1_In_Frame_Del_p.529_530SS>S|NOLC1_ENST00000488254.2_In_Frame_Del_p.520_521SS>S	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	519	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCAGCAACAGTTCTTCTTCTGAT	0.537																																																	0								ENSG00000166197			7,4255		2,3,2126						2.5	0.8			66	21,8233		9,3,4115	no	coding	NOLC1	NM_004741.3		11,6,6241	A1A1,A1R,RR		0.2544,0.1642,0.2237				28,12488				NOLC1	SO:0001651	inframe_deletion	0				HGNC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1557_1559delTTC	10.37:g.103920672_103920674delTTC	ENSP00000474710:p.Ser522del	Somatic	0	20	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL							pfam_SRP40_C,pfscan_LisH_dimerisation	p.S532in_frame_del	ENST00000605788.1	37	c.1587_1589	CCDS7530.1	10																																																																																			-	NULL		0.537	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	protein_coding	OTTHUMT00000050012.2	TTC	NM_004741			103920668	1	no_errors	ENST00000405356	ensembl	human	known	74_37	in_frame_del	DEL	0.238:0.344:0.376	-	-	103920668	TTC	-	103920666	7	5	193	1	0	1	0	1	0	0	0	0	10531	1722	60	0	1595	0	NOLC1	10	103920666	In_Frame_Del	DEL	TTC	TCGA-PC-A5DO-01A-11D-A26G-09	76587545	103920666	31614081	19	13150											
ZNF408	79797	genome.wustl.edu	37	chr11	46726962	46726962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctccgagctcacgagcGcctgcactccggagagaggc	13	16	1	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:46726962G>A	ENST00000311764.2	+	5	1942	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTCACGAGCGCCTGCACTCC	0.657																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0								ENSG00000175213						24	24	24					11																	46726962		2201	4299	6500	ZNF408	SO:0001583	missense	0			-	HGNC	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1712G>A	11.37:g.46726962G>A	ENSP00000309606:p.Arg571His	Somatic	0	33	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	3	82.35		Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R571H	ENST00000311764.2	37	c.1712	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366692	0.82463	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.38957	0.1060	M	0.70787	2.145	0.43050	D	0.994651	D;D	0.61697	0.99;0.99	P;P	0.55011	0.766;0.766	T	0.34153	-0.9840	10	0.87932	D	0	-33.5023	9.7171	0.40281	0.0761:0.0:0.7852:0.1387	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	571	ENSP00000309606:R571H	ENSP00000309606:R571H	R	+	2	0	ZNF408	46683538	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	5.552000	0.67281	2.439000	0.82584	0.462000	0.41574	CGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	protein_coding	OTTHUMT00000390485.2	G	NM_024741	-		46726962	1	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46726962	G	A	46726962	3	1	193	1	0	0	0	0	1	0	0	0	17895	1087	38	1	1762	1	ZNF408	11	46726962	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09		46726962	88279554	20	13151											
KBTBD4	55709	genome.wustl.edu	37	chr11	47594902	47594902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccccccctagtaagtagatGatcccgttgaggttggcacc	10	13	0	3			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:47594902G>A	ENST00000526005.1	-	4	1290	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	KBTBD4_ENST00000395288.2_Silent_p.I379I|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Silent_p.I395I|KBTBD4_ENST00000533290.1_Silent_p.I404I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	379										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTAAGTAGATGATCCCGTTGA	0.498																																																	0								ENSG00000123444						116	110	112					11																	47594902		2201	4298	6499	KBTBD4	SO:0001819	synonymous_variant	0			-	HGNC	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1137C>T	11.37:g.47594902G>A		Somatic	0	40	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	9	70.00	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Silent	SNP							pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.I395	ENST00000526005.1	37	c.1185	CCDS7940.1	11																																																																																			-	NULL		0.498	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	protein_coding	OTTHUMT00000391763.1	G	NM_016506	-		47594902	-1	no_errors	ENST00000430070	ensembl	human	known	74_37	silent	SNP	1.000	A	A	47594902	G	A	47594902	2	1	193	1	0	0	0	0	0	0	0	1	7997	1280	45	2		2	KBTBD4	11	47594902	Silent	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09	867940	47594902	87411614	21	13152											
DDB1	1642	genome.wustl.edu	37	chr11	61089859	61089859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccactacataggagCcttgttcattactgtcaacg	8	12	2	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:61089859C>T	ENST00000301764.7	-	9	1428	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	344	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TACATAGGAGCCTTGTTCATT	0.483								Nucleotide excision repair (NER)																																									0								ENSG00000167986						146	123	131					11																	61089859		2203	4299	6502	DDB1	SO:0001583	missense	0			-	HGNC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1031G>A	11.37:g.61089859C>T	ENSP00000301764:p.Gly344Asp	Somatic	0	27	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP							pfam_Cleavage/polyA-sp_fac_asu_C	p.G344D	ENST00000301764.7	37	c.1031	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805170	0.70682	.	.	ENSG00000167986	ENST00000301764;ENST00000539739;ENST00000535174;ENST00000541513	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.46	5.46	0.80206	.	0.048873	0.85682	D	0.000000	T	0.47078	0.1426	M	0.76574	2.34	0.80722	D	1	B;B;B	0.23316	0.083;0.047;0.057	B;B;B	0.24701	0.04;0.034;0.055	T	0.43798	-0.9369	10	0.17369	T	0.5	-21.9975	19.315	0.94208	0.0:1.0:0.0:0.0	.	344;344;344	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	D	344;63;127;159	ENSP00000301764:G344D;ENSP00000445563:G63D;ENSP00000446044:G127D;ENSP00000442660:G159D	ENSP00000301764:G344D	G	-	2	0	DDB1	60846435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.629000	0.83207	2.555000	0.86185	0.655000	0.94253	GGC	-	NULL		0.483	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	protein_coding	OTTHUMT00000398816.1	C	NM_001923	-		61089859	-1	no_errors	ENST00000301764	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61089859	C	T	61089859	3	4	193	1	0	0	0	0	1	0	0	0	4325	739	26	2	2467	2	DDB1	11	61089859	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	13494957	61089859	73916657	22	13153											
EHD1	10938	genome.wustl.edu	37	chr11	64622875	64622875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtagatctctccgaggttGttcaccagctctttcttttt	8	10	4	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:64622875G>C	ENST00000320631.3	-	4	1253	c.999C>G	c.(997-999)aaC>aaG	p.N333K	EHD1_ENST00000488711.1_5'Flank|EHD1_ENST00000359393.2_Missense_Mutation_p.N333K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	333					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						CTCCGAGGTTGTTCACCAGCT	0.552											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000110047						156	142	147					11																	64622875		2201	4297	6498	EHD1	SO:0001583	missense	0			-	HGNC	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.999C>G	11.37:g.64622875G>C	ENSP00000320516:p.Asn333Lys	Somatic	0	24	0	1078	0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.N333K	ENST00000320631.3	37	c.999	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	6.474	0.455546	0.12283	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803	T;T;T;T	0.39997	2.37;2.37;1.05;1.63	4.63	4.63	0.57726	.	0.207171	0.50627	D	0.000109	T	0.26629	0.0651	N	0.17764	0.52	0.51233	D	0.999919	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.07271	-1.0781	10	0.08837	T	0.75	.	15.0511	0.71872	0.0:0.0:1.0:0.0	.	333;333	B2R5U3;Q9H4M9	.;EHD1_HUMAN	K	333;333;309;347;197;347	ENSP00000320516:N333K;ENSP00000352354:N333K;ENSP00000391429:N197K;ENSP00000404944:N347K	ENSP00000320516:N333K	N	-	3	2	EHD1	64379451	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.658000	0.61497	2.420000	0.82092	0.561000	0.74099	AAC	-	NULL		0.552	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	protein_coding	OTTHUMT00000143229.2	G	NM_006795	-		64622875	-1	no_errors	ENST00000320631	ensembl	human	known	74_37	missense	SNP	1.000	C	C	64622875	G	C	64622875	3	2	193	1	0	0	0	0	1	0	0	0	4979	1368	48	4	613	4	EHD1	11	64622875	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09	3533016	64622875	70383641	23	13154											
RB1	5925	genome.wustl.edu	37	chr13	48923068	48923109	+	Splice_Site	DEL	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	-													atacatttttcctgttttttTtctgctttctatttgtttaa					rs140706037|rs149703672|rs147793910		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr13:48923068_48923109delTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	ENST00000267163.4	+	6	677_695	c.539_557delTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	c.(538-558)tttctgctttctatttgttta>ta	p.FLLSICL180del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	180					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.S182fs*3(1)|p.N186fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCTGTTTTTTTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAATTCTGCATTG	0.248		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(6)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(11)|breast(6)|lung(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CI931106|CM951103|CS030548|CS930863	RB1	I|M|S		ENSG00000139687																																			RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.540-1TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA>-	13.37:g.48923068_48923109delTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA		Somatic					0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	DEL							-	e6-1	ENST00000267163.4	37	c.540-24_540-1	CCDS31973.1	13																																																																																			-	-		0.248	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA			In_Frame_Del	48923109	1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site_del	DEL	0.748:0.656:0.094:0.076:0.000:0.005:0.215:0.266:0.281:0.276:0.319:0.335:0.547:0.689:0.953:0.968:0.985:0.987:0.993:0.993:0.992:0.996:1.000:1.000:0.997:0.988:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	48923109	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	-	48923068	8	5	193	1	0	1	0	1	0	0	1	0	13106	1856	64	0		0	RB1	13	48923068	Splice_Site	DEL	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	TCGA-PC-A5DO-01A-11D-A26G-09		48923068	66246810	24	13155											
TXNDC16	57544	genome.wustl.edu	37	chr14	52985905	52985905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacctggtattccaatggCtcttacatatgagaatataa	6	7	1	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr14:52985905C>T	ENST00000281741.4	-	7	870	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	167					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATTCCAATGGCTCTTACATAT	0.308																																																	0								ENSG00000087301						85	89	88					14																	52985905		2203	4288	6491	TXNDC16	SO:0001583	missense	0			-	HGNC	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.499G>A	14.37:g.52985905C>T	ENSP00000281741:p.Ala167Thr	Somatic	0	28	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	14	56.25	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A167T	ENST00000281741.4	37	c.499	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593381	0.86953	.	.	ENSG00000087301	ENST00000281741	T	0.22336	1.96	5.38	5.38	0.77491	.	0.155551	0.56097	D	0.000024	T	0.44973	0.1319	M	0.69823	2.125	0.47994	D	0.999565	D;D	0.76494	0.996;0.999	P;D	0.64144	0.837;0.922	T	0.40850	-0.9541	10	0.72032	D	0.01	-30.9457	16.6369	0.85061	0.0:1.0:0.0:0.0	.	162;167	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	167	ENSP00000281741:A167T	ENSP00000281741:A167T	A	-	1	0	TXNDC16	52055655	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.264000	0.65513	2.523000	0.85059	0.655000	0.94253	GCC	-	NULL		0.308	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	protein_coding	OTTHUMT00000411681.1	C	XM_051699	-		52985905	-1	no_errors	ENST00000281741	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52985905	C	T	52985905	3	4	193	1	0	0	0	0	1	0	0	0	16802	797	28	2	2038	2	TXNDC16	14	52985905	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		52985905	54363635	25	13156											
SDF2	6388	genome.wustl.edu	37	chr17	26976212	26976212	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaccgcacctcaccatctCtcacccagtagggtccatta	6	16	3	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:26976212C>T	ENST00000247020.4	-	3	729	c.431G>A	c.(430-432)aGa>aAa	p.R144K	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	144	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTCACCATCTCTCACCCAGTA	0.478																																																	0								ENSG00000132581						148	129	135					17																	26976212		2203	4300	6503	SDF2	SO:0001583	missense	0			-	HGNC	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.431G>A	17.37:g.26976212C>T	ENSP00000247020:p.Arg144Lys	Somatic	0	37	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	Q9BQ79	Missense_Mutation	SNP							pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.R144K	ENST00000247020.4	37	c.431	CCDS11238.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.038013	0.97226	.	.	ENSG00000132581	ENST00000247020	D	0.83755	-1.76	5.64	5.64	0.86602	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	M	0.69463	2.115	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	D	0.88202	0.2884	10	0.39692	T	0.17	-20.6724	20.1418	0.98058	0.0:1.0:0.0:0.0	.	144	Q99470	SDF2_HUMAN	K	144	ENSP00000247020:R144K	ENSP00000247020:R144K	R	-	2	0	SDF2	24000339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.729000	0.68538	2.831000	0.97527	0.644000	0.83932	AGA	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif		0.478	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDF2	protein_coding	OTTHUMT00000255965.2	C	NM_006923	-		26976212	-1	no_errors	ENST00000247020	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26976212	C	T	26976212	3	4	193	1	0	0	0	0	1	0	0	0	13968	913	32	2	208	2	SDF2	17	26976212	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		26976212	54218998	26	13157											
EFCAB5	374786	genome.wustl.edu	37	chr17	28405430	28405430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaggaattctgccaggCggaaatggctgcaccaaatc	12	10	2	1	rs376451950		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:28405430C>T	ENST00000394835.3	+	15	3127	c.2935C>T	c.(2935-2937)Cgg>Tgg	p.R979W	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R855W|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	979							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCCAGGCGGAAATGGCT	0.493													C|||	1	0.000199681	0	0	5008	,	,		18814	0		0	False		,,,				2504	0.001																0								ENSG00000176927	C	TRP/ARG	0,3856		0,0,1928	83	83	83		2935	3.9	0.9	17		83	1,8259		0,1,4129	no	missense	EFCAB5	NM_198529.3	101	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	benign	979/1504	28405430	1,12115	1928	4130	6058	EFCAB5	SO:0001583	missense	0			-	HGNC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2935C>T	17.37:g.28405430C>T	ENSP00000378312:p.Arg979Trp	Somatic	0	33	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.R979W	ENST00000394835.3	37	c.2935	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595220	0.46318	0.0	1.21E-4	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.16897	2.31;2.33;2.33	4.89	3.92	0.45320	GAF (1);	0.338736	0.19963	N	0.102163	T	0.10035	0.0246	N	0.25647	0.755	0.34743	D	0.730944	B;B	0.32939	0.2;0.391	B;B	0.24541	0.046;0.054	T	0.18241	-1.0343	10	0.59425	D	0.04	-3.9203	6.3165	0.21194	0.195:0.7095:0.0:0.0955	.	855;979	E7EVS9;A4FU69	.;EFCB5_HUMAN	W	979;855;661	ENSP00000378312:R979W;ENSP00000322003:R855W;ENSP00000417009:R661W	ENSP00000322003:R855W	R	+	1	2	EFCAB5	25429556	0.661000	0.27430	0.942000	0.38095	0.356000	0.29392	0.674000	0.25218	1.067000	0.40740	0.655000	0.94253	CGG	-	NULL		0.493	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	protein_coding	OTTHUMT00000256120.4	C	NM_198529	-		28405430	1	no_errors	ENST00000394835	ensembl	human	known	74_37	missense	SNP	0.567	T	T	28405430	C	T	28405430	3	4	193	1	0	0	0	0	1	0	0	0	4940	759	27	1	3160	1	EFCAB5	17	28405430	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	1429218	28405430	52789780	27	13158											
SPATA20	64847	genome.wustl.edu	37	chr17	48628217	48628217	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgccaccgagccgctgacctCaggccagctcctcatgaagc	10	17	2	2			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:48628217C>G	ENST00000356488.4	+	10	1357	c.1274C>G	c.(1273-1275)tCa>tGa	p.S425*	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Nonsense_Mutation_p.S441*|SPATA20_ENST00000393244.3_Nonsense_Mutation_p.S381*	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCTGACCTCAGGCCAGCTC	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006282						69	78	75					17																	48628217		2203	4298	6501	SPATA20	SO:0001587	stop_gained	0			-	HGNC		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1274C>G	17.37:g.48628217C>G	ENSP00000348878:p.Ser425*	Somatic	0	43	0	119	0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	23	52.08	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Nonsense_Mutation	SNP							pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.S441*	ENST00000356488.4	37	c.1322	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.588483	0.96590	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	.	.	.	5.64	4.59	0.56863	.	0.278041	0.34932	N	0.003575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-32.5371	3.6851	0.08326	0.0:0.6591:0.0:0.3409	.	.	.	.	X	441;425;381	.	ENSP00000006658:S441X	S	+	2	0	SPATA20	45983216	0.008000	0.16893	0.923000	0.36655	0.794000	0.44872	2.050000	0.41297	2.664000	0.90586	0.655000	0.94253	TCA	-	superfamily_6-hairpin_glycosidase-like		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	protein_coding	OTTHUMT00000367651.1	C	NM_022827	-		48628217	1	no_errors	ENST00000006658	ensembl	human	known	74_37	nonsense	SNP	0.854	G	G	48628217	C	G	48628217	4	3	193	1	0	0	0	0	0	1	0	0	15013	838	29	4	1364	4	SPATA20	17	48628217	Nonsense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	20222787	48628217	32566993	28	13159											
UBXN6	80700	genome.wustl.edu	37	chr19	4445565	4445565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggctcggcccccgcggccTtgatgtcctccagcacagcc	11	20	0	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:4445565T>C	ENST00000301281.6	-	11	1380	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.K366R	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	419						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCCGCGGCCTTGATGTCCTC	0.627																																																	0								ENSG00000167671						90	93	92					19																	4445565		2203	4300	6503	UBXN6	SO:0001583	missense	0			-	HGNC	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1256A>G	19.37:g.4445565T>C	ENSP00000301281:p.Lys419Arg	Somatic	0	42	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP							pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.K419R	ENST00000301281.6	37	c.1256	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	T	3.980	-0.006602	0.07773	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.32023	1.9;1.47	5.82	-5.15	0.02866	.	0.657772	0.16181	N	0.225833	T	0.11750	0.0286	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.30707	-0.9969	10	0.11485	T	0.65	-18.0273	15.9117	0.79477	0.0:0.1237:0.0:0.8763	.	366;419	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	R	419;366	ENSP00000301281:K419R;ENSP00000378246:K366R	ENSP00000301281:K419R	K	-	2	0	UBXN6	4396565	0.006000	0.16342	0.019000	0.16419	0.035000	0.12851	0.197000	0.17197	-0.642000	0.05480	0.459000	0.35465	AAG	-	NULL		0.627	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	protein_coding	OTTHUMT00000458447.3	T	NM_025241	-		4445565	-1	no_errors	ENST00000301281	ensembl	human	known	74_37	missense	SNP	0.166	C	C	4445565	T	C	4445565	3	2	193	1	0	0	0	0	1	0	0	0	16924	1609	56	5	73	5	UBXN6	19	4445565	Missense_Mutation	SNP	T	TCGA-PC-A5DO-01A-11D-A26G-09		4445565	54683418	29	13160											
TRIP10	9322	genome.wustl.edu	37	chr19	6744604	6744604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgcagggccacccgcctgGgtgccgggtatgggctcctg	16	14	0	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:6744604G>T	ENST00000313244.9	+	8	717	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	TRIP10_ENST00000313285.8_Missense_Mutation_p.G228C|TRIP10_ENST00000596758.1_Missense_Mutation_p.G228C|TRIP10_ENST00000600428.1_Missense_Mutation_p.G120C			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	228	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CACCCGCCTGGGTGCCGGGTA	0.597																																																	0								ENSG00000125733						104	115	111					19																	6744604		2203	4300	6503	TRIP10	SO:0001583	missense	0			-	HGNC	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.682G>T	19.37:g.6744604G>T	ENSP00000320117:p.Gly228Cys	Somatic	0	44	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	35.29	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP							pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.G228C	ENST00000313244.9	37	c.682		19	.	.	.	.	.	.	.	.	.	.	G	12.59	1.985045	0.35036	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.43688	0.94;2.51	4.97	3.85	0.44370	.	0.119241	0.56097	D	0.000025	T	0.52645	0.1747	L	0.42245	1.32	0.42266	D	0.992036	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.939;0.927	T	0.54583	-0.8272	10	0.72032	D	0.01	-40.782	10.7729	0.46334	0.0:0.1927:0.8073:0.0	.	228;228;228	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	C	228	ENSP00000320493:G228C;ENSP00000320117:G228C	ENSP00000320117:G228C	G	+	1	0	TRIP10	6695604	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	3.007000	0.49536	2.460000	0.83146	0.462000	0.41574	GGT	-	NULL		0.597	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	protein_coding	OTTHUMT00000317129.2	G		-		6744604	1	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6744604	G	T	6744604	3	4	193	1	0	0	0	0	1	0	0	0	16561	1232	43	3	712	3	TRIP10	19	6744604	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09	2299039	6744604	52384379	30	13161											
CLEC4M	10332	genome.wustl.edu	37	chr19	7830875	7830875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctgacccggctgaAggctgcagtgggtgagttgc	17	10	0	3			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:7830875A>G	ENST00000327325.5	+	4	684	c.566A>G	c.(565-567)aAg>aGg	p.K189R	CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.K145R|CLEC4M_ENST00000248228.4_Missense_Mutation_p.K167R|CLEC4M_ENST00000334806.5_Missense_Mutation_p.K138R|CLEC4M_ENST00000596363.1_Missense_Mutation_p.K161R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.K177R|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.K189R|CLEC4M_ENST00000596707.1_Missense_Mutation_p.K168R	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	189	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACCCGGCTGAAGGCTGCAGTG	0.577																																																	0								ENSG00000104938						28	24	25					19																	7830875		2039	4167	6206	CLEC4M	SO:0001583	missense	0			-	HGNC	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.566A>G	19.37:g.7830875A>G	ENSP00000316228:p.Lys189Arg	Somatic	0	97	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	62	32.61	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.K189R	ENST00000327325.5	37	c.566	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197754	0.38806	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.33216	1.42;1.75;1.75;1.42;4.15;1.42	1.1	1.1	0.20463	.	.	.	.	.	T	0.47284	0.1437	M	0.75777	2.31	0.18873	N	0.999988	B;P;D;P;D;P;P;B	0.71674	0.177;0.86;0.998;0.615;0.982;0.811;0.551;0.34	B;P;D;B;D;P;B;B	0.85130	0.15;0.815;0.997;0.164;0.952;0.828;0.228;0.316	T	0.24440	-1.0160	9	0.32370	T	0.25	.	4.4132	0.11443	1.0:0.0:0.0:0.0	.	138;168;161;189;177;166;161;133	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.	R	189;177;167;138;145;189;133	ENSP00000316228:K189R;ENSP00000377680:K177R;ENSP00000248228:K167R;ENSP00000335228:K138R;ENSP00000351954:K145R;ENSP00000349924:K189R	ENSP00000248228:K167R	K	+	2	0	CLEC4M	7736875	0.775000	0.28604	0.609000	0.28983	0.177000	0.22998	0.798000	0.27014	0.749000	0.32854	0.352000	0.21897	AAG	-	NULL		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	protein_coding	OTTHUMT00000461161.1	A	NM_014257	-		7830875	1	no_errors	ENST00000327325	ensembl	human	known	74_37	missense	SNP	0.689	G	G	7830875	A	G	7830875	3	3	193	1	0	0	0	0	1	0	0	0	3520	72	3	5	601	5	CLEC4M	19	7830875	Missense_Mutation	SNP	A	TCGA-PC-A5DO-01A-11D-A26G-09	1086271	7830875	51298108	31	13162											
ZNF799	90576	genome.wustl.edu	37	chr19	12502913	12502913	+	Missense_Mutation	SNP	A	A	T													tacggctttcatatggacctActccaggaagagtgttcttg							TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:12502913A>T	ENST00000430385.3	-	4	499	c.299T>A	c.(298-300)gTa>gAa	p.V100E	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V100E|ZNF799_ENST00000419318.1_Missense_Mutation_p.V68E	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	100					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)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATATGGACCTACTCCAGGAAG	0.403																																																	0								ENSG00000196466						131	122	125					19																	12502913		2203	4300	6503	ZNF799	SO:0001583	missense	0			-	HGNC	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.299T>A	19.37:g.12502913A>T	ENSP00000411084:p.Val100Glu	Somatic	0	64	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V100E	ENST00000430385.3	37	c.299	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.216594	0.00286	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.10099	2.91;3.12	1.31	-1.33	0.09172	.	.	.	.	.	T	0.03434	0.0099	N	0.11000	0.08	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.42361	-0.9456	9	0.02654	T	1	.	1.4828	0.02441	0.4627:0.0:0.2263:0.3111	.	100	Q96GE5	ZN799_HUMAN	E	68;100	ENSP00000415278:V68E;ENSP00000411084:V100E	ENSP00000415278:V68E	V	-	2	0	ZNF799	12363913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.045000	0.12003	-0.520000	0.06435	0.352000	0.21897	GTA	-	NULL		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	protein_coding	OTTHUMT00000344099.2	A	NM_001080821	-		12502913	-1	no_errors	ENST00000430385	ensembl	human	known	74_37	missense	SNP	0.000	T	T	12502913	A	T	12502913	3	4	193	1	0	0	0	0	1	0	0	0	18173	391	14	5	1636	5	ZNF799	19	12502913	Missense_Mutation	SNP	A	TCGA-PC-A5DO-01A-11D-A26G-09	4672038	12502913	46626070	32	13163	196	2									
ZNF799	90576	genome.wustl.edu	37	chr19	12502914	12502914	+	Missense_Mutation	SNP	C	C	G													acggctttcatatggacctaCtccaggaagagtgttcttgg							TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:12502914C>G	ENST00000430385.3	-	4	498	c.298G>C	c.(298-300)Gta>Cta	p.V100L	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V100L|ZNF799_ENST00000419318.1_Missense_Mutation_p.V68L	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	100					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)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TATGGACCTACTCCAGGAAGA	0.403																																																	0								ENSG00000196466						131	121	124					19																	12502914		2203	4300	6503	ZNF799	SO:0001583	missense	0			-	HGNC	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.298G>C	19.37:g.12502914C>G	ENSP00000411084:p.Val100Leu	Somatic	0	63	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V100L	ENST00000430385.3	37	c.298	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	C	7.235	0.600052	0.13939	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08720	3.06;3.27	1.31	-1.3	0.09259	.	.	.	.	.	T	0.05364	0.0142	N	0.21324	0.655	0.09310	N	1	P	0.36315	0.547	B	0.38562	0.276	T	0.34576	-0.9823	9	0.87932	D	0	.	1.8793	0.03225	0.3192:0.451:0.0:0.2298	.	100	Q96GE5	ZN799_HUMAN	L	68;100	ENSP00000415278:V68L;ENSP00000411084:V100L	ENSP00000415278:V68L	V	-	1	0	ZNF799	12363914	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.023000	0.12456	-0.320000	0.08640	-0.450000	0.05554	GTA	-	NULL		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	protein_coding	OTTHUMT00000344099.2	C	NM_001080821	-		12502914	-1	no_errors	ENST00000430385	ensembl	human	known	74_37	missense	SNP	0.001	G	G	12502914	C	G	12502914	3	3	193	1	0	0	0	0	1	0	0	0	18173	565	20	4	1637	4	ZNF799	19	12502914	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	1	12502914	46626069	33	13164	196	2									
EPS15L1	58513	genome.wustl.edu	37	chr19	16536019	16536019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcaggcaggacggggaCggcgccagggaacacagtct	18	11	1	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:16536019C>T	ENST00000248070.6	-	9	806	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	EPS15L1_ENST00000455140.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V223I|EPS15L1_ENST00000602009.1_Missense_Mutation_p.V69I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V223I	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	223	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGGACGGGGACGGCGCCAGGG	0.682																																																	0								ENSG00000127527						41	41	41					19																	16536019		2203	4299	6502	EPS15L1	SO:0001583	missense	0			-	HGNC	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.667G>A	19.37:g.16536019C>T	ENSP00000248070:p.Val223Ile	Somatic	0	24	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP							superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V223I	ENST00000248070.6	37	c.667	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333836	0.60853	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.32515	1.84;1.82;1.45	4.77	4.77	0.60923	.	0.065898	0.64402	D	0.000014	T	0.23451	0.0567	L	0.27053	0.805	0.53688	D	0.99997	P;B;D;D;P;P	0.53151	0.597;0.448;0.958;0.958;0.785;0.808	B;B;B;B;B;B	0.41271	0.079;0.1;0.352;0.352;0.121;0.338	T	0.02491	-1.1151	10	0.27082	T	0.32	.	16.9635	0.86279	0.0:1.0:0.0:0.0	.	223;223;222;223;223;223	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	I	223	ENSP00000393313:V223I;ENSP00000248070:V223I;ENSP00000440103:V223I	ENSP00000248070:V223I	V	-	1	0	EPS15L1	16397019	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	5.699000	0.68310	2.488000	0.83962	0.561000	0.74099	GTC	-	NULL		0.682	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	protein_coding	OTTHUMT00000461040.1	C	NM_021235	-		16536019	-1	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16536019	C	T	16536019	3	4	193	1	0	0	0	0	1	0	0	0	5195	536	19	1	1987	1	EPS15L1	19	16536019	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	4033105	16536019	42592964	34	13165											
ZNF676	163223	genome.wustl.edu	37	chr19	22363460	22363460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaataatcttatgtttAgtaaggattgaggatcgatt	10	2	1	2	rs78757874		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:22363460A>G	ENST00000397121.2	-	3	1376	c.1059T>C	c.(1057-1059)acT>acC	p.T353T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	353					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTTATGTTTAGTAAGGATTG	0.398																																																	0								ENSG00000196109																																			ZNF676	SO:0001819	synonymous_variant	0			-	HGNC	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1059T>C	19.37:g.22363460A>G		Somatic	0	49	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	A8MVX5	Silent	SNP							pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T353	ENST00000397121.2	37	c.1059	CCDS42539.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	A	NM_001001411	rs78757874		22363460	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	SNP	0.000	G	G	22363460	A	G	22363460	2	3	193	1	0	0	0	0	0	0	0	1	18090	407	15	5		5	ZNF676	19	22363460	Silent	SNP	A	TCGA-PC-A5DO-01A-11D-A26G-09	5827441	22363460	36765523	35	13166											
MYH9	4627	genome.wustl.edu	37	chr22	36696962	36696962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcgctcctcctcctcctCcaccctggcctctaggtcat	7	20	2	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr22:36696962C>T	ENST00000216181.5	-	22	3003	c.2773G>A	c.(2773-2775)Gag>Aag	p.E925K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	925					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTCCTCCTCCACCCTGGCC	0.642			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								ENSG00000100345						74	80	78					22																	36696962		2203	4300	6503	MYH9	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2773G>A	22.37:g.36696962C>T	ENSP00000216181:p.Glu925Lys	Somatic	0	33	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	56	27.27	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E925K	ENST00000216181.5	37	c.2773	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.726107	0.96847	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.75050	-0.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.91663	3.23	0.80722	D	1	P	0.47545	0.897	P	0.53266	0.722	D	0.89787	0.3965	10	0.87932	D	0	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	925	P35579	MYH9_HUMAN	K	789;925	ENSP00000216181:E925K	ENSP00000216181:E925K	E	-	1	0	MYH9	35026908	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.818000	0.86416	2.604000	0.88044	0.655000	0.94253	GAG	-	NULL		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	C	NM_002473	-		36696962	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36696962	C	T	36696962	3	4	193	1	0	0	0	0	1	0	0	0	10044	864	30	2	3189	2	MYH9	22	36696962	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		36696962	14607604	36	13167											
HUWE1	10075	genome.wustl.edu	37	chrX	53619440	53619440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcttctcctcgagacCcctccttctccttgcttagt	4	17	3	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:53619440C>T	ENST00000342160.3	-	32	4347	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E	HUWE1_ENST00000262854.6_Missense_Mutation_p.G1297E|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1297E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1297					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCGAGACCCCTCCTTCTC	0.547																																																	0								ENSG00000086758						244	192	210					X																	53619440		2203	4300	6503	HUWE1	SO:0001583	missense	0			-	HGNC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3890G>A	X.37:g.53619440C>T	ENSP00000340648:p.Gly1297Glu	Somatic	0	61	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP							pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.G1297E	ENST00000342160.3	37	c.3890	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430637	0.62844	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	1.22;1.22;0.93	5.88	5.88	0.94601	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.33485	1.01	0.80722	D	1	B;B	0.29432	0.192;0.244	B;B	0.32211	0.142;0.097	T	0.21415	-1.0246	10	0.56958	D	0.05	.	17.8502	0.88744	0.0:1.0:0.0:0.0	.	1297;1297	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	E	1297	ENSP00000340648:G1297E;ENSP00000262854:G1297E;ENSP00000218328:G1297E	ENSP00000218328:G1297E	G	-	2	0	HUWE1	53636165	1.000000	0.71417	0.942000	0.38095	0.803000	0.45373	7.121000	0.77160	2.489000	0.83994	0.600000	0.82982	GGG	-	superfamily_UBA-like		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	C	XM_497119	-		53619440	-1	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53619440	C	T	53619440	3	4	193	1	0	0	0	0	1	0	0	0	7463	623	22	2	9442	2	HUWE1	23	53619440	Missense_Mutation	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09		53619440	101651120	37	13168											
SLC10A3	8273	genome.wustl.edu	37	chrX	153717082	153717082	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagagccatctccaatgctCaagtagcggcccccagtcgg	10	15	2	1			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:153717082C>T	ENST00000393587.4	-	3	461	c.198G>A	c.(196-198)ttG>ttA	p.L66L	SLC10A3_ENST00000393586.1_Silent_p.L121L|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000263512.4_Silent_p.L66L|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.L66L	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	66					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					CTCCAATGCTCAAGTAGCGGC	0.622																																																	0								ENSG00000126903						146	116	126					X																	153717082		2203	4300	6503	SLC10A3	SO:0001819	synonymous_variant	0			-	HGNC	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.198G>A	X.37:g.153717082C>T		Somatic	0	80	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	52	44.09	Q5HY79|Q9BSL2	Silent	SNP							pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L66	ENST00000393587.4	37	c.198	CCDS14755.1	X																																																																																			-	NULL		0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	protein_coding	OTTHUMT00000037235.3	C	NM_019848	-		153717082	-1	no_errors	ENST00000263512	ensembl	human	known	74_37	silent	SNP	1.000	T	T	153717082	C	T	153717082	2	4	193	1	0	0	0	0	0	0	0	1	14383	825	29	2		2	SLC10A3	23	153717082	Silent	SNP	C	TCGA-PC-A5DO-01A-11D-A26G-09	100097642	153717082	1553478	38	13169											
F8	2157	genome.wustl.edu	37	chrX	154158400	154158400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacattctcttggattaatGtttccttcttttctatttct	3	9	4	0			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:154158400G>A	ENST00000360256.4	-	14	3865	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1222	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGGATTAATGTTTCCTTCTT	0.318																																																	0								ENSG00000185010						37	32	34					X																	154158400		2202	4297	6499	F8	SO:0001583	missense	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3665C>T	X.37:g.154158400G>A	ENSP00000353393:p.Thr1222Ile	Somatic	0	55	0		0.742361508840979				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.27	Q14286|Q5HY69	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T1222I	ENST00000360256.4	37	c.3665	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	1.192	-0.634945	0.03584	.	.	ENSG00000185010	ENST00000360256	D	0.99070	-5.39	5.87	-3.22	0.05125	.	1.632970	0.02763	N	0.118787	D	0.96809	0.8958	L	0.47716	1.5	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	D	0.91719	0.5387	10	0.45353	T	0.12	0.1328	4.1456	0.10214	0.0751:0.1876:0.3925:0.3449	.	1222	P00451	FA8_HUMAN	I	1222	ENSP00000353393:T1222I	ENSP00000353393:T1222I	T	-	2	0	F8	153811594	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.824000	0.04438	-0.783000	0.04534	-0.227000	0.12334	ACA	-	NULL		0.318	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	G		-		154158400	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	SNP	0.000	A	A	154158400	G	A	154158400	3	1	193	1	0	0	0	0	1	0	0	0	5352	1377	48	2	3470	2	F8	23	154158400	Missense_Mutation	SNP	G	TCGA-PC-A5DO-01A-11D-A26G-09	441318	154158400	1112160	39	13170											
ENO1	2023	genome.wustl.edu	37	chr1	8925473	8925473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaactcggaggccgctaCgtccatgccgatgaccacct	11	14	0	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:8925473C>T	ENST00000234590.4	-	8	855	c.736G>A	c.(736-738)Gta>Ata	p.V246I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	246					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCCGCTACGTCCATGCCG	0.552																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0								ENSG00000074800						108	96	100					1																	8925473		2203	4300	6503	ENO1	SO:0001583	missense	0			-	HGNC	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.736G>A	1.37:g.8925473C>T	ENSP00000234590:p.Val246Ile	Somatic	0	27	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP							pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.V246I	ENST00000234590.4	37	c.736	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216459	0.58452	.	.	ENSG00000074800	ENST00000234590	T	0.55760	0.5	5.8	5.8	0.92144	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	M	0.73962	2.25	0.53005	D	0.999967	B;B;B;B	0.23249	0.048;0.048;0.039;0.082	B;B;B;B	0.27262	0.078;0.058;0.046;0.058	T	0.58792	-0.7574	10	0.66056	D	0.02	-20.2255	19.0419	0.93004	0.0:1.0:0.0:0.0	.	150;84;153;246	E2DRY6;Q9BT62;P06733-2;P06733	.;.;.;ENOA_HUMAN	I	246	ENSP00000234590:V246I	ENSP00000234590:V246I	V	-	1	0	ENO1	8848060	1.000000	0.71417	0.596000	0.28811	0.275000	0.26752	7.747000	0.85070	2.758000	0.94735	0.561000	0.74099	GTA	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.552	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	protein_coding	OTTHUMT00000004945.1	C	NM_001428	-		8925473	-1	no_errors	ENST00000234590	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8925473	C	T	8925473	3	4	194	1	0	0	0	0	1	0	0	0	5123	536	19	1	588	1	ENO1	1	8925473	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09		8925473	240325148	1	13171											
FHL3	2275	genome.wustl.edu	37	chr1	38463098	38463098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggccctgcctggctacaGccctggcagagcacttggtc	13	14	0	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:38463098G>A	ENST00000373016.3	-	6	990	c.822C>T	c.(820-822)ggC>ggT	p.G274G	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	274	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGGCTACAGCCCTGGCAGA	0.637																																																	0								ENSG00000183386						61	66	65					1																	38463098		2203	4300	6503	FHL3	SO:0001819	synonymous_variant	0			-	HGNC	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.822C>T	1.37:g.38463098G>A		Somatic	0	39	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G274	ENST00000373016.3	37	c.822	CCDS30678.1	1																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.637	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	protein_coding	OTTHUMT00000012958.1	G	NM_004468	-		38463098	-1	no_errors	ENST00000373016	ensembl	human	known	74_37	silent	SNP	0.992	A	A	38463098	G	A	38463098	2	1	194	1	0	0	0	0	0	0	0	1	5882	958	34	2		2	FHL3	1	38463098	Silent	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	29537625	38463098	210787523	2	13172											
CCDC24	149473	genome.wustl.edu	37	chr1	44458252	44458252	+	Frame_Shift_Del	DEL	G	G	-													gtcctgcactttgccttggaGgagcccaggtgtgatttgcc							TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:44458252delG	ENST00000372318.3	+	4	531	c.360delG	c.(358-360)gagfs	p.E121fs	SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	121										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTGCCTTGGAGGAGCCCAGGT	0.577																																																	0								ENSG00000159214						104	94	98					1																	44458252		2203	4300	6503	CCDC24	SO:0001589	frameshift_variant	0				HGNC		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.360delG	1.37:g.44458252delG	ENSP00000361392:p.Glu121fs	Somatic	0	52	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q6RWT2	Frame_Shift_Del	DEL							NULL	p.E121fs	ENST00000372318.3	37	c.360	CCDS507.1	1																																																																																			-	NULL		0.577	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC24	protein_coding	OTTHUMT00000022865.1	G	NM_152499			44458252	1	no_errors	ENST00000372318	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	44458252	G	-	44458252	7	5	194	1	0	1	0	1	0	0	0	0	2801	991	35	0	370	0	CCDC24	1	44458252	Frame_Shift_Del	DEL	G	TCGA-PT-A8TR-01A-11D-A37C-09	5995154	44458252	204792369	3	13173											
WLS	79971	genome.wustl.edu	37	chr1	68564403	68564403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttccgaaacaaacaaagcaCaatcttccctcgatttacat	4	12	1	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:68564403C>A	ENST00000354777.2	-	12	1789	c.1544G>T	c.(1543-1545)tGt>tTt	p.C515F	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.C517F	NM_001002292.3	NP_001002292.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	516					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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						aaacaaagcacaatcttccct	0.348																																																	0								ENSG00000116729						113	106	108					1																	68564403		2203	4300	6503	WLS	SO:0001583	missense	0			-	HGNC	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	ENST00000354777.2:c.1544G>T	1.37:g.68564403C>A	ENSP00000346829:p.Cys515Phe	Somatic	0	26	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	0	100.00	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP							NULL	p.C517F	ENST00000354777.2	37	c.1550	CCDS30750.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192953	0.38707	.	.	ENSG00000116729	ENST00000540432;ENST00000354777	T;T	0.42131	0.98;0.98	2.25	1.2	0.21068	.	4.349970	0.02665	N	0.107958	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.14172	-1.0482	10	0.20519	T	0.43	-9.6844	6.2997	0.21105	0.328:0.672:0.0:0.0	.	515	Q5T9L3-2	.	F	517;515	ENSP00000446112:C517F;ENSP00000346829:C515F	ENSP00000346829:C515F	C	-	2	0	WLS	68336991	0.001000	0.12720	0.001000	0.08648	0.756000	0.42949	0.868000	0.27982	0.395000	0.25257	0.563000	0.77884	TGT	-	NULL		0.348	WLS-003	KNOWN	basic|CCDS	protein_coding	WLS	protein_coding	OTTHUMT00000025370.1	C	NM_024911	-		68564403	-1	no_errors	ENST00000540432	ensembl	human	known	74_37	missense	SNP	0.001	A	A	68564403	C	A	68564403	3	1	194	1	0	0	0	0	1	0	0	0	17383	478	17	3	91	3	WLS	1	68564403	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	24106151	68564403	180686218	4	13174											
NBPF14	25832	genome.wustl.edu	37	chr1	148024804	148024804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgggacttgtccggctcatCcggagtgaggagggcctgga	17	10	1	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:148024804C>A	ENST00000369219.1	-	2	209	c.193G>T	c.(193-195)Gat>Tat	p.D65Y				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	65						cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCCGGCTCATCCGGAGTGAGG	0.592																																																	0								ENSG00000122497						10	16	14					1																	148024804		520	1872	2392	NBPF14	SO:0001583	missense	0			-	HGNC	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.193G>T	1.37:g.148024804C>A	ENSP00000358221:p.Asp65Tyr	Somatic	0	26	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	78	15.22	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP							pfam_NBPF_dom	p.D65Y	ENST00000369219.1	37	c.193		1	.	.	.	.	.	.	.	.	.	.	c	1.180	-0.638294	0.03557	.	.	ENSG00000122497	ENST00000369219	T	0.04119	3.7	.	.	.	.	.	.	.	.	T	0.05410	0.0143	M	0.76838	2.35	0.09310	N	1	D	0.67145	0.996	P	0.56700	0.804	T	0.24261	-1.0165	8	0.72032	D	0.01	.	2.8389	0.05523	0.0:0.5938:0.0:0.4062	.	65	Q5TI25	NBPFE_HUMAN	Y	65	ENSP00000358221:D65Y	ENSP00000358221:D65Y	D	-	1	0	NBPF14	146491428	0.002000	0.14202	0.010000	0.14722	0.334000	0.28698	0.466000	0.22019	0.429000	0.26202	0.064000	0.15345	GAT	-	NULL		0.592	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	protein_coding		C	NM_015383	-		148024804	-1	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	SNP	0.011	A	A	148024804	C	A	148024804	3	1	194	1	0	0	0	0	1	0	0	0	10196	855	30	3	2656	3	NBPF14	1	148024804	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	79460401	148024804	101225817	5	13175											
SH2D2A	9047	genome.wustl.edu	37	chr1	156777009	156777009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccatgcctgtcctctGtcctgaagcacctgtctaga	10	13	2	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:156777009G>A	ENST00000368199.3	-	8	1284	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	SH2D2A_ENST00000392306.2_Silent_p.D387D|SH2D2A_ENST00000368198.3_Silent_p.D359D	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	377	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGTCCTCTGTCCTGAAGCA	0.592																																																	0								ENSG00000027869						84	84	84					1																	156777009		2203	4300	6503	SH2D2A	SO:0001819	synonymous_variant	0			-	HGNC	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1131C>T	1.37:g.156777009G>A		Somatic	0	26	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.86	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP							pfam_SH2,smart_SH2,pfscan_SH2	p.D387	ENST00000368199.3	37	c.1161	CCDS1159.1	1																																																																																			-	NULL		0.592	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	protein_coding	OTTHUMT00000098982.1	G	NM_003975	-		156777009	-1	no_errors	ENST00000392306	ensembl	human	known	74_37	silent	SNP	0.938	A	A	156777009	G	A	156777009	2	1	194	1	0	0	0	0	0	0	0	1	14240	1368	48	2		2	SH2D2A	1	156777009	Silent	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	8752205	156777009	92473612	6	13176											
POGK	57645	genome.wustl.edu	37	chr1	166810314	166810314	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaagtacgaatctgctctGagggcggatgggtaagtaag	15	5	2	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr1:166810314G>T	ENST00000367875.1	+	2	481	c.121G>T	c.(121-123)Gag>Tag	p.E41*	POGK_ENST00000367876.4_Nonsense_Mutation_p.E41*|POGK_ENST00000536514.1_5'UTR|POGK_ENST00000537173.1_5'UTR			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	41					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AATCTGCTCTGAGGGCGGATG	0.537																																					GBM(76;192 1530 30153 48742)												0								ENSG00000143157						77	71	73					1																	166810314		2203	4300	6503	POGK	SO:0001587	stop_gained	0			-	HGNC	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.121G>T	1.37:g.166810314G>T	ENSP00000356849:p.Glu41*	Somatic	0	31	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	58	10.77	Q5TIJ1|Q8TE07	Nonsense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E41*	ENST00000367875.1	37	c.121	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	G	40	7.956638	0.98580	.	.	ENSG00000143157	ENST00000449930;ENST00000367876;ENST00000367875	.	.	.	5.34	5.34	0.76211	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.6903	14.731	0.69383	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000356849:E41X	E	+	1	0	POGK	165076938	0.992000	0.36948	0.997000	0.53966	0.951000	0.60555	2.510000	0.45468	2.937000	0.99478	0.650000	0.86243	GAG	-	superfamily_Krueppel-associated_box		0.537	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	protein_coding	OTTHUMT00000082888.1	G	NM_017542	-		166810314	1	no_errors	ENST00000367875	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	166810314	G	T	166810314	4	4	194	1	0	0	0	0	0	1	0	0	12187	1291	45	3	123	3	POGK	1	166810314	Nonsense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	10033305	166810314	82440307	7	13177											
NEB	4703	genome.wustl.edu	37	chr2	152521285	152521285	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacttacatcactcatggtGatttggtttactctggagag	9	8	3	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr2:152521285G>A	ENST00000172853.10	-	43	5478	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	NEB_ENST00000409198.1_Silent_p.I1777I|NEB_ENST00000603639.1_Silent_p.I1777I|NEB_ENST00000604864.1_Silent_p.I1777I|NEB_ENST00000427231.2_Silent_p.I1777I|NEB_ENST00000397345.3_Silent_p.I1777I			P20929	NEBU_HUMAN	nebulin	1777					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)		CACTCATGGTGATTTGGTTTA	0.418																																																	0								ENSG00000183091						115	101	105					2																	152521285		1893	4121	6014	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.5331C>T	2.37:g.152521285G>A		Somatic	0	48	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	32	40.74	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I1777	ENST00000172853.10	37	c.5331		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152521285	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.564	A	A	152521285	G	A	152521285	2	1	194	1	0	0	0	0	0	0	0	1	10304	1280	45	2		2	NEB	2	152521285	Silent	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		152521285	90678088	8	13178											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173782548	173782548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaatatcgacagtatatgGcaggacttctggctcctcct	9	10	1	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr2:173782548G>T	ENST00000397081.3	+	5	606	c.463G>T	c.(463-465)Gca>Tca	p.A155S	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A2S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A2S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A11S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A2S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.A155S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A155S|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	155					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACAGTATATGGCAGGACTTCT	0.348																																																	0								ENSG00000091428						181	171	174					2																	173782548		1873	4109	5982	RAPGEF4	SO:0001583	missense	0			-	HGNC	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.463G>T	2.37:g.173782548G>T	ENSP00000380271:p.Ala155Ser	Somatic	0	35	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.A155S	ENST00000397081.3	37	c.463	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033947	0.54896	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331	T;T;T;T;T;T;T	0.65549	0.97;0.97;0.97;-0.14;-0.16;-0.01;-0.01	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.050074	0.85682	D	0.000000	T	0.43656	0.1257	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.10296	0.001;0.003;0.0;0.001	B;B;B;B	0.09377	0.002;0.004;0.0;0.001	T	0.35624	-0.9781	10	0.08599	T	0.76	.	14.3982	0.67025	0.0:0.0:0.8517:0.1483	.	2;11;155;155	B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;RPGF4_HUMAN;.	S	155;155;155;11;2;2;2	ENSP00000264111:A155S;ENSP00000380271:A155S;ENSP00000387104:A155S;ENSP00000380276:A11S;ENSP00000440135:A2S;ENSP00000440250:A2S;ENSP00000437384:A2S	ENSP00000264111:A155S	A	+	1	0	RAPGEF4	173490794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.683000	0.68189	2.765000	0.95021	0.650000	0.86243	GCA	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.348	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	protein_coding	OTTHUMT00000257864.2	G	NM_007023	-		173782548	1	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	SNP	1.000	T	T	173782548	G	T	173782548	3	4	194	1	0	0	0	0	1	0	0	0	13054	1203	42	3	497	3	RAPGEF4	2	173782548	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	21261263	173782548	69416825	9	13179											
PLD1	5337	genome.wustl.edu	37	chr3	171452702	171452702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcatgttttcagatgaacGgggcaaactgggcatctctc	10	9	3	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr3:171452702G>A	ENST00000351298.4	-	5	619	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	PLD1_ENST00000356327.5_Missense_Mutation_p.R165C|PLD1_ENST00000340989.4_Missense_Mutation_p.R165C|PLD1_ENST00000342215.6_Missense_Mutation_p.R165C	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	165	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCAGATGAACGGGGCAAACTG	0.403																																					NSCLC(149;2174 3517 34058)												0								ENSG00000075651						144	151	148					3																	171452702		2203	4300	6503	PLD1	SO:0001583	missense	0			-	HGNC	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.493C>T	3.37:g.171452702G>A	ENSP00000342793:p.Arg165Cys	Somatic	0	20	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33		Missense_Mutation	SNP							pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.R165C	ENST00000351298.4	37	c.493	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735501	0.69189	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.33865	3.29;3.28;1.39;3.14	5.82	2.92	0.33932	Phox homologous domain (5);	0.204873	0.50627	D	0.000114	T	0.48732	0.1516	L	0.52905	1.665	0.24603	N	0.993763	D;D	0.62365	0.991;0.965	P;P	0.58970	0.849;0.849	T	0.44236	-0.9341	10	0.54805	T	0.06	-1.6483	13.2567	0.60083	0.0:0.0:0.5829:0.4171	.	188;165	Q59EA4;Q13393	.;PLD1_HUMAN	C	165	ENSP00000348681:R165C;ENSP00000342793:R165C;ENSP00000339936:R165C;ENSP00000340326:R165C	ENSP00000340326:R165C	R	-	1	0	PLD1	172935396	0.974000	0.33945	0.159000	0.22649	0.962000	0.63368	2.226000	0.42963	0.298000	0.22638	0.655000	0.94253	CGT	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox		0.403	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	protein_coding	OTTHUMT00000346730.2	G	NM_002662	-		171452702	-1	no_errors	ENST00000351298	ensembl	human	known	74_37	missense	SNP	0.024	A	A	171452702	G	A	171452702	3	1	194	1	0	0	0	0	1	0	0	0	12047	1116	39	1	2823	1	PLD1	3	171452702	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		171452702	26569728	10	13180											
ACOX3	8310	genome.wustl.edu	37	chr4	8396467	8396467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatatggaagcaagcgccaTtgctagaacagacaagacac	10	9	0	4			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr4:8396467T>C	ENST00000356406.5	-	10	1136	c.1059A>G	c.(1057-1059)caA>caG	p.Q353Q	ACOX3_ENST00000413009.2_Silent_p.Q353Q|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000503233.1_Silent_p.Q353Q	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	353					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAAGCGCCATTGCTAGAACA	0.572																																																	0								ENSG00000087008						60	55	57					4																	8396467		2203	4300	6503	ACOX3	SO:0001819	synonymous_variant	0			-	HGNC	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1059A>G	4.37:g.8396467T>C		Somatic	0	9	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	Q96AJ8	Silent	SNP							pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.Q353	ENST00000356406.5	37	c.1059	CCDS3401.1	4																																																																																			-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	protein_coding	OTTHUMT00000206997.4	T		-		8396467	-1	no_errors	ENST00000356406	ensembl	human	known	74_37	silent	SNP	1.000	C	C	8396467	T	C	8396467	2	2	194	1	0	0	0	0	0	0	0	1	160	1490	52	5		5	ACOX3	4	8396467	Silent	SNP	T	TCGA-PT-A8TR-01A-11D-A37C-09		8396467	182757809	11	13181											
BOD1L	259282	genome.wustl.edu	37	chr4	13616072	13616072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgctcactgctttcctgttGaacatccttatttagcagaa	6	10	1	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr4:13616072G>T	ENST00000040738.5	-	4	1057	c.922C>A	c.(922-924)Caa>Aaa	p.Q308K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	308						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTTCCTGTTGAACATCCTTA	0.358																																																	0								ENSG00000038219						73	67	69					4																	13616072		2203	4300	6503	BOD1L1	SO:0001583	missense	0			-	HGNC	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.922C>A	4.37:g.13616072G>T	ENSP00000040738:p.Gln308Lys	Somatic	0	43	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.00	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP							NULL	p.Q308K	ENST00000040738.5	37	c.922	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896213	0.52121	.	.	ENSG00000038219	ENST00000040738	T	0.06933	3.24	5.75	4.86	0.63082	.	0.167508	0.28635	N	0.014650	T	0.09069	0.0224	L	0.59436	1.845	0.09310	N	1	B	0.22276	0.067	B	0.19391	0.025	T	0.33189	-0.9878	10	0.09843	T	0.71	-8.0255	11.7715	0.51962	0.0:0.132:0.7317:0.1364	.	308	Q8NFC6	BOD1L_HUMAN	K	308	ENSP00000040738:Q308K	ENSP00000040738:Q308K	Q	-	1	0	BOD1L	13225170	0.880000	0.30214	0.984000	0.44739	0.933000	0.57130	2.922000	0.48860	2.709000	0.92574	0.591000	0.81541	CAA	-	NULL		0.358	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	G	NM_148894	-		13616072	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	SNP	0.023	T	T	13616072	G	T	13616072	3	4	194	1	0	0	0	0	1	0	0	0	1483	1299	45	3	8325	3	BOD1L	4	13616072	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	5219605	13616072	177538204	12	13182											
C4orf35	85438	genome.wustl.edu	37	chr4	71201610	71201610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataaacgggaagatactcTgctaactgatgaagaaacta	9	6	1	5			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr4:71201610T>C	ENST00000273936.5	+	1	928	c.854T>C	c.(853-855)cTg>cCg	p.L285P		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	285					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAGATACTCTGCTAACTGAT	0.418																																																	0								ENSG00000145309						103	97	99					4																	71201610		2203	4300	6503	CABS1	SO:0001583	missense	0			-	HGNC	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.854T>C	4.37:g.71201610T>C	ENSP00000273936:p.Leu285Pro	Somatic	0	49	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	14	56.25	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP							NULL	p.L285P	ENST00000273936.5	37	c.854	CCDS3539.1	4	.	.	.	.	.	.	.	.	.	.	T	6.897	0.535112	0.13188	.	.	ENSG00000145309	ENST00000273936	T	0.25085	1.82	3.92	-1.99	0.07457	.	1.478610	0.04506	N	0.382162	T	0.15998	0.0385	N	0.17082	0.46	0.18873	N	0.999983	B	0.11235	0.004	B	0.13407	0.009	T	0.31052	-0.9957	10	0.33940	T	0.23	-19.8969	8.2259	0.31568	0.0:0.3562:0.0:0.6438	.	285	Q96KC9	CABS1_HUMAN	P	285	ENSP00000273936:L285P	ENSP00000273936:L285P	L	+	2	0	CABS1	71236199	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.280000	0.09154	-0.912000	0.02778	CTG	-	NULL		0.418	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	CABS1	protein_coding	OTTHUMT00000251561.3	T	NM_033122	-		71201610	1	no_errors	ENST00000273936	ensembl	human	known	74_37	missense	SNP	0.000	C	C	71201610	T	C	71201610	3	2	194	1	0	0	0	0	1	0	0	0	2267	1580	55	5	856	5	C4orf35	4	71201610	Missense_Mutation	SNP	T	TCGA-PT-A8TR-01A-11D-A37C-09	57585538	71201610	119952666	13	13183											
PPP2R5D	5528	genome.wustl.edu	37	chr6	42974819	42974819	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagccgtgatgttgtcactGaggccatttaccctgaggct	11	10	1	3			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr6:42974819G>T	ENST00000485511.1	+	4	672	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.E157*|PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.E59*|PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.E133*	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	165					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			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)			TGTTGTCACTGAGGCCATTTA	0.572																																					Melanoma(63;587 1613 29742 31770)												0								ENSG00000112640						111	102	105					6																	42974819		2203	4300	6503	PPP2R5D	SO:0001587	stop_gained	0			-	HGNC	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.493G>T	6.37:g.42974819G>T	ENSP00000417963:p.Glu165*	Somatic	0	42	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Nonsense_Mutation	SNP							pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E165*	ENST00000485511.1	37	c.493	CCDS4878.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.061686|5.061686	0.93846|0.93846	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	.|.	.|.	.|.	5.22|5.22	4.35|4.35	0.52113|0.52113	.|.	0.051441|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	-19.4345|-19.4345	13.9416|13.9416	0.64059|0.64059	0.0728:0.0:0.9272:0.0|0.0728:0.0:0.9272:0.0	.|.	.|.	.|.	.|.	X|L	165;133;157;165;59|84	.|.	ENSP00000377669:E133X|.	E|X	+|+	1|2	0|2	PPP2R5D|PPP2R5D	43082797|43082797	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.900000|0.900000	0.52787|0.52787	9.657000|9.657000	0.98554|0.98554	1.436000|1.436000	0.47453|0.47453	-0.140000|-0.140000	0.14226|0.14226	GAG|TGA	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.572	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	protein_coding	OTTHUMT00000040573.3	G	NM_006245	-		42974819	1	no_errors	ENST00000485511	ensembl	human	known	74_37	nonsense	SNP	0.999	T	T	42974819	G	T	42974819	4	4	194	1	0	0	0	0	0	1	0	0	12400	1291	45	3	507	3	PPP2R5D	6	42974819	Nonsense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		42974819	128140248	14	13184											
KLHDC3	116138	genome.wustl.edu	37	chr6	42986655	42986655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggggccatgtccccgccGgcgccagtgctgctgtattg	15	13	0	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr6:42986655G>T	ENST00000326974.4	+	8	1070	c.875G>T	c.(874-876)cGg>cTg	p.R292L	KLHDC3_ENST00000332245.8_Missense_Mutation_p.R233L|KLHDC3_ENST00000244670.8_Missense_Mutation_p.R158L|RRP36_ENST00000244496.5_5'Flank	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	292					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)			TGTCCCCGCCGGCGCCAGTGC	0.512																																																	0								ENSG00000124702						64	76	72					6																	42986655		2202	4299	6501	KLHDC3	SO:0001583	missense	0			-	HGNC	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.875G>T	6.37:g.42986655G>T	ENSP00000313995:p.Arg292Leu	Somatic	0	44	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A8K2W9	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1	p.R292L	ENST00000326974.4	37	c.875	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175562	0.78564	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.71674	0.991;0.997;0.979;0.998	D;D;P;D	0.68039	0.946;0.955;0.696;0.955	T	0.79458	-0.1795	10	0.87932	D	0	-5.8557	11.9157	0.52763	0.1422:0.0:0.8578:0.0	.	292;233;158;292	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	L	292;292;158;292;265;233	ENSP00000313995:R292L;ENSP00000244670:R158L;ENSP00000331562:R233L	ENSP00000244670:R158L	R	+	2	0	KLHDC3	43094633	1.000000	0.71417	0.990000	0.47175	0.923000	0.55619	9.132000	0.94455	0.743000	0.32719	0.205000	0.17691	CGG	-	NULL		0.512	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	protein_coding	OTTHUMT00000040570.1	G	NM_057161	-		42986655	1	no_errors	ENST00000326974	ensembl	human	known	74_37	missense	SNP	0.999	T	T	42986655	G	T	42986655	3	4	194	1	0	0	0	0	1	0	0	0	8359	1116	39	3	901	3	KLHDC3	6	42986655	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	11836	42986655	128128412	15	13185											
PRDM13	59336	genome.wustl.edu	37	chr6	100062378	100062378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaagcacatccggctgCacgccgagggcaatacgccc	10	16	1	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr6:100062378C>T	ENST00000369215.4	+	4	2172	c.1867C>T	c.(1867-1869)Cac>Tac	p.H623Y		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	623					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CATCCGGCTGCACGCCGAGGG	0.637																																																	0								ENSG00000112238						32	36	35					6																	100062378		2063	4207	6270	PRDM13	SO:0001583	missense	0			-	HGNC	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1867C>T	6.37:g.100062378C>T	ENSP00000358217:p.His623Tyr	Somatic	0	19	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	Q5TGC1|Q5TGC2	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.H623Y	ENST00000369215.4	37	c.1867	CCDS43487.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725595	0.89298	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.88896	-2.44;-2.44	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000528	D	0.95175	0.8436	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.95618	0.8678	10	0.87932	D	0	-27.0114	18.8666	0.92294	0.0:1.0:0.0:0.0	.	623	Q9H4Q3	PRD13_HUMAN	Y	623;633	ENSP00000358217:H623Y;ENSP00000358216:H633Y	ENSP00000358216:H633Y	H	+	1	0	PRDM13	100169099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.566000	0.86566	0.561000	0.74099	CAC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	protein_coding	OTTHUMT00000041619.2	C		-		100062378	1	no_errors	ENST00000369215	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100062378	C	T	100062378	3	4	194	1	0	0	0	0	1	0	0	0	12459	710	25	2	1881	2	PRDM13	6	100062378	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	57075723	100062378	71052689	16	13186											
ARID1B	57492	genome.wustl.edu	37	chr6	157520041	157520041	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtacccacagcagccGgtgagttggcaagtgggcgt	16	11	0	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr6:157520041G>A	ENST00000350026.5	+	16	4072	c.4071G>A	c.(4069-4071)ccG>ccA	p.P1357P	ARID1B_ENST00000275248.4_Splice_Site_p.P1352P|ARID1B_ENST00000367148.1_Splice_Site_p.P1410P|ARID1B_ENST00000346085.5_Splice_Site_p.P1370P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1357					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P1352P(1)|p.P1370P(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CACAGCAGCCGGTGAGTTGGC	0.567																																																	2	Substitution - coding silent(2)	kidney(2)						ENSG00000049618						14	17	16					6																	157520041		2199	4292	6491	ARID1B	SO:0001630	splice_region_variant	0			-	HGNC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4071+1G>A	6.37:g.157520041G>A		Somatic	0	81	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	57	41.24	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P1410	ENST00000350026.5	37	c.4230	CCDS5251.2	6																																																																																			-	NULL		0.567	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	protein_coding	OTTHUMT00000372723.1	G	NM_020732	-	Silent	157520041	1	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	SNP	1.000	A	A	157520041	G	A	157520041	5	1	194	1	0	0	0	0	0	0	1	0	914	1130	39	1	4176	1	ARID1B	6	157520041	Splice_Site	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	57457663	157520041	13595026	17	13187											
DNAH11	8701	genome.wustl.edu	37	chr7	21757493	21757493	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgcttggataaactgAgaacaagctttaaaaccatc	7	9	0	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr7:21757493A>C	ENST00000409508.3	+	43	7115	c.7084A>C	c.(7084-7086)Aga>Cga	p.R2362R	DNAH11_ENST00000328843.6_Silent_p.R2369R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2369	AAA 2. {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						GGATAAACTGAGAACAAGCTT	0.423									Kartagener syndrome																																								0								ENSG00000105877						159	152	154					7																	21757493		1895	4113	6008	DNAH11	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.7084A>C	7.37:g.21757493A>C		Somatic	0	45	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q9UJ82	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R2369	ENST00000409508.3	37	c.7105		7																																																																																			-	NULL		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	A	NM_003777	-		21757493	1	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	SNP	1.000	C	C	21757493	A	C	21757493	2	2	194	1	0	0	0	0	0	0	0	1	4601	296	11	5		5	DNAH11	7	21757493	Silent	SNP	A	TCGA-PT-A8TR-01A-11D-A37C-09		21757493	137381170	18	13188											
TNS3	64759	genome.wustl.edu	37	chr7	47343111	47343111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggggacttccggtgggcCggccgctccccagcagggaa	17	13	0	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr7:47343111C>A	ENST00000398879.1	-	22	3260	c.2894G>T	c.(2893-2895)cGg>cTg	p.R965L	TNS3_ENST00000355730.3_Missense_Mutation_p.R725L|TNS3_ENST00000311160.9_Missense_Mutation_p.R965L			Q68CZ2	TENS3_HUMAN	tensin 3	965					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCCGGTGGGCCGGCCGCTCCC	0.632																																																	0								ENSG00000136205						16	21	19					7																	47343111		2001	4161	6162	TNS3	SO:0001583	missense	0			-	HGNC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2894G>T	7.37:g.47343111C>A	ENSP00000381854:p.Arg965Leu	Somatic	0	25	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP							pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R965L	ENST00000398879.1	37	c.2894	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289350	0.40494	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94537	-2.99;-2.99;-3.45;-3.22	5.69	2.62	0.31277	.	0.393093	0.20627	N	0.088666	D	0.86280	0.5895	L	0.34521	1.04	0.80722	D	1	P	0.37276	0.589	B	0.29524	0.103	T	0.79060	-0.1958	10	0.09590	T	0.72	-12.909	8.4002	0.32581	0.0:0.7292:0.0:0.2708	.	965	Q68CZ2	TENS3_HUMAN	L	965;1075;965;725;421;1068	ENSP00000312143:R965L;ENSP00000381854:R965L;ENSP00000347968:R725L;ENSP00000414358:R1068L	ENSP00000312143:R965L	R	-	2	0	TNS3	47309636	0.975000	0.34042	0.901000	0.35422	0.560000	0.35617	0.253000	0.18296	0.232000	0.21100	0.650000	0.86243	CGG	-	NULL		0.632	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	protein_coding	OTTHUMT00000157253.1	C	NM_022748	-		47343111	-1	no_errors	ENST00000311160	ensembl	human	known	74_37	missense	SNP	0.977	A	A	47343111	C	A	47343111	3	1	194	1	0	0	0	0	1	0	0	0	16351	652	23	3	1483	3	TNS3	7	47343111	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	25585618	47343111	111795552	19	13189											
ASZ1	136991	genome.wustl.edu	37	chr7	117020090	117020090	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttctgctggtctttactGgtaattccattctaagcaga	7	8	3	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr7:117020090G>T	ENST00000284629.2	-	10	1019	c.957C>A	c.(955-957)acC>acA	p.T319T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGTCTTTACTGGTAATTCCAT	0.323																																																	0								ENSG00000154438						61	64	63					7																	117020090		2202	4290	6492	ASZ1	SO:0001819	synonymous_variant	0			-	HGNC	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.957C>A	7.37:g.117020090G>T		Somatic	0	32	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50		Silent	SNP							pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T319	ENST00000284629.2	37	c.957	CCDS5772.1	7																																																																																			-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed		0.323	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASZ1	protein_coding	OTTHUMT00000138907.7	G	NM_130768	-		117020090	-1	no_errors	ENST00000284629	ensembl	human	known	74_37	silent	SNP	0.003	T	T	117020090	G	T	117020090	2	4	194	1	0	0	0	0	0	0	0	1	1069	1335	47	3		3	ASZ1	7	117020090	Silent	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	69676979	117020090	42118573	20	13190											
KCNB2	9312	genome.wustl.edu	37	chr8	73480540	73480540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaacctaactcatcagtgGctgcaaaggtatgaaaccca	8	10	2	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr8:73480540G>T	ENST00000523207.1	+	2	1159	c.571G>T	c.(571-573)Gct>Tct	p.A191S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	191					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTCATCAGTGGCTGCAAAGGT	0.423																																																	0								ENSG00000182674						60	64	63					8																	73480540		2195	4296	6491	KCNB2	SO:0001583	missense	0			-	HGNC	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.571G>T	8.37:g.73480540G>T	ENSP00000430846:p.Ala191Ser	Somatic	0	31	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.A191S	ENST00000523207.1	37	c.571	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726601	0.48833	.	.	ENSG00000182674	ENST00000523207	D	0.97455	-4.39	5.77	3.96	0.45880	.	0.680971	0.12129	N	0.496972	D	0.95124	0.8420	L	0.54965	1.715	0.58432	D	0.999996	B	0.17268	0.021	B	0.19946	0.027	D	0.91178	0.4974	10	0.38643	T	0.18	.	10.9793	0.47483	0.0677:0.0:0.8023:0.13	.	191	Q92953	KCNB2_HUMAN	S	191	ENSP00000430846:A191S	ENSP00000430846:A191S	A	+	1	0	KCNB2	73643094	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	9.813000	0.99286	0.875000	0.35847	0.655000	0.94253	GCT	-	prints_K_chnl		0.423	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	protein_coding	OTTHUMT00000378998.1	G	NM_004770	-		73480540	1	no_errors	ENST00000523207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73480540	G	T	73480540	3	4	194	1	0	0	0	0	1	0	0	0	8015	1203	42	3	573	3	KCNB2	8	73480540	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		73480540	72883482	21	13191											
DMRT2	10655	genome.wustl.edu	37	chr9	1056545	1056545	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcagggtctgggaatatgGaactaatttcttctaatgtc	9	6	4	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr9:1056545G>T	ENST00000358146.2	+	3	958	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	DMRT2_ENST00000302441.6_Nonsense_Mutation_p.E320*|DMRT2_ENST00000382251.3_Nonsense_Mutation_p.E320*|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	320					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|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)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TGGGAATATGGAACTAATTTC	0.468																																																	0								ENSG00000173253						92	96	95					9																	1056545		2203	4300	6503	DMRT2	SO:0001587	stop_gained	0			-	HGNC	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.958G>T	9.37:g.1056545G>T	ENSP00000350865:p.Glu320*	Somatic	0	39	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Nonsense_Mutation	SNP							pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.E320*	ENST00000358146.2	37	c.958	CCDS6444.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.788311	0.97837	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	.	.	.	5.62	5.62	0.85841	.	0.104696	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.041	19.2806	0.94051	0.0:0.0:1.0:0.0	.	.	.	.	X	320	.	ENSP00000305785:E320X	E	+	1	0	DMRT2	1046545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.665000	0.90641	0.650000	0.86243	GAA	-	NULL		0.468	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	protein_coding	OTTHUMT00000051492.1	G	NM_006557	-		1056545	1	no_errors	ENST00000302441	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	1056545	G	T	1056545	4	4	194	1	0	0	0	0	0	1	0	0	4588	1175	41	3	1025	3	DMRT2	9	1056545	Nonsense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		1056545	140156886	22	13192											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123215781	123215781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcagcctgccacccagGcaccccgtgcaggttctctg	13	16	1	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr9:123215781G>A	ENST00000349780.4	-	21	2925	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P916S|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P916S|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P884S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	916					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCCACCCAGGCACCCCGTGC	0.478																																																	0								ENSG00000136861						80	85	83					9																	123215781		2203	4300	6503	CDK5RAP2	SO:0001583	missense	0			-	HGNC	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2746C>T	9.37:g.123215781G>A	ENSP00000343818:p.Pro916Ser	Somatic	0	38	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP							pfam_Spindle_assoc	p.P916S	ENST00000349780.4	37	c.2746	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735883	0.49045	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.16597	4.0;3.81;4.02;3.92;2.33	5.42	3.58	0.41010	.	0.327733	0.26594	N	0.023505	T	0.12774	0.0310	N	0.20986	0.625	0.09310	N	1	B;P;B;B	0.45531	0.157;0.86;0.036;0.154	B;P;B;B	0.47075	0.082;0.536;0.037;0.082	T	0.07927	-1.0747	10	0.36615	T	0.2	.	4.5935	0.12319	0.1791:0.0:0.6456:0.1753	.	685;916;916;310	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	S	884;916;916;916;310	ENSP00000354065:P884S;ENSP00000352258:P916S;ENSP00000343818:P916S;ENSP00000353317:P916S;ENSP00000400395:P310S	ENSP00000343818:P916S	P	-	1	0	CDK5RAP2	122255602	0.016000	0.18221	0.006000	0.13384	0.003000	0.03518	0.796000	0.26986	1.276000	0.44395	0.650000	0.86243	CCT	-	NULL		0.478	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	protein_coding	OTTHUMT00000055535.1	G	NM_018249	-		123215781	-1	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	SNP	0.003	A	A	123215781	G	A	123215781	3	1	194	1	0	0	0	0	1	0	0	0	3148	1203	42	2	3007	2	CDK5RAP2	9	123215781	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	122159236	123215781	17997650	23	13193											
ABCC2	1244	genome.wustl.edu	37	chr10	101590148	101590148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaagatgcagcctccataaCcatgagaagagagaacagct	10	10	0	4			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr10:101590148C>A	ENST00000370449.4	+	20	2818	c.2705C>A	c.(2704-2706)aCc>aAc	p.T902N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	902					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCCTCCATAACCATGAGAAGA	0.483																																																	0								ENSG00000023839						138	135	136					10																	101590148		2203	4300	6503	ABCC2	SO:0001583	missense	0			-	HGNC	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2705C>A	10.37:g.101590148C>A	ENSP00000359478:p.Thr902Asn	Somatic	0	58	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.T902N	ENST00000370449.4	37	c.2705	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905188	0.33628	.	.	ENSG00000023839	ENST00000370449	D	0.89196	-2.48	5.28	2.43	0.29744	.	0.148253	0.64402	D	0.000012	D	0.83903	0.5355	M	0.62723	1.935	0.80722	D	1	B	0.25772	0.134	B	0.23018	0.043	T	0.74893	-0.3509	10	0.37606	T	0.19	-11.815	5.9048	0.18986	0.1406:0.6505:0.1354:0.0735	.	902	Q92887	MRP2_HUMAN	N	902	ENSP00000359478:T902N	ENSP00000359478:T902N	T	+	2	0	ABCC2	101580138	1.000000	0.71417	0.984000	0.44739	0.816000	0.46133	1.354000	0.34056	0.233000	0.21120	-0.254000	0.11334	ACC	-	tigrfam_Multidrug-R_assoc		0.483	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	C	NM_000392	-		101590148	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101590148	C	A	101590148	3	1	194	1	0	0	0	0	1	0	0	0	53	507	18	3	2783	3	ABCC2	10	101590148	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09		101590148	33944599	24	13194											
SLK	9748	genome.wustl.edu	37	chr10	105762924	105762924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgatactgaccaaaAggctttaggaagtgaagttc	13	6	0	3			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr10:105762924A>G	ENST00000369755.3	+	9	2533	c.1988A>G	c.(1987-1989)aAg>aGg	p.K663R	SLK_ENST00000335753.4_Missense_Mutation_p.K663R	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	663					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACTGACCAAAAGGCTTTAGGA	0.393																																					NSCLC(111;540 1651 1927 4474 17706)												0								ENSG00000065613						124	112	116					10																	105762924		2203	4300	6503	SLK	SO:0001583	missense	0			-	HGNC		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1988A>G	10.37:g.105762924A>G	ENSP00000358770:p.Lys663Arg	Somatic	0	45	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP							pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom	p.K663R	ENST00000369755.3	37	c.1988	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	A	2.745	-0.261374	0.05791	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69435	-0.4;-0.4	5.6	4.43	0.53597	Protein kinase-like domain (1);	0.578287	0.18636	N	0.135438	T	0.46908	0.1417	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.27434	-1.0074	10	0.23891	T	0.37	.	6.9717	0.24652	0.7967:0.0:0.0712:0.132	.	663;663	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	R	663	ENSP00000336824:K663R;ENSP00000358770:K663R	ENSP00000336824:K663R	K	+	2	0	SLK	105752914	0.000000	0.05858	0.004000	0.12327	0.085000	0.17905	0.429000	0.21412	0.906000	0.36621	0.454000	0.30748	AAG	-	superfamily_Kinase-like_dom		0.393	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	protein_coding	OTTHUMT00000050188.1	A	NM_014720	-		105762924	1	no_errors	ENST00000369755	ensembl	human	known	74_37	missense	SNP	0.000	G	G	105762924	A	G	105762924	3	3	194	1	0	0	0	0	1	0	0	0	14756	72	3	5	2022	5	SLK	10	105762924	Missense_Mutation	SNP	A	TCGA-PT-A8TR-01A-11D-A37C-09	4172776	105762924	29771823	25	13195											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133930998	133930998	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggacaagatcaaggccgcaGagatccgcagcgtgtaccac	12	13	1	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr10:133930998G>T	ENST00000298622.4	+	2	691	c.553G>T	c.(553-555)Gag>Tag	p.E185*		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	185						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAGGCCGCAGAGATCCGCAG	0.632																																																	0								ENSG00000188385						36	44	41					10																	133930998		2135	4234	6369	JAKMIP3	SO:0001587	stop_gained	0			-	HGNC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.553G>T	10.37:g.133930998G>T	ENSP00000298622:p.Glu185*	Somatic	0	29	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A6PW00|Q69YM6|Q6ZT29	Nonsense_Mutation	SNP							NULL	p.E185*	ENST00000298622.4	37	c.553	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.075129	0.98044	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-34.8462	17.7631	0.88470	0.0:0.0:1.0:0.0	.	.	.	.	X	185	.	ENSP00000298622:E185X	E	+	1	0	JAKMIP3	133780988	1.000000	0.71417	0.942000	0.38095	0.753000	0.42808	9.079000	0.94032	2.419000	0.82065	0.591000	0.81541	GAG	-	NULL		0.632	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	protein_coding	OTTHUMT00000051049.3	G	NM_194303	-		133930998	1	no_errors	ENST00000298622	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	133930998	G	T	133930998	4	4	194	1	0	0	0	0	0	1	0	0	7944	943	33	3	559	3	JAKMIP3	10	133930998	Nonsense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	28168074	133930998	1603749	26	13196											
MUC5B	727897	genome.wustl.edu	37	chr11	1266537	1266537	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactcgactccagccctGtccagccctcaccctagcag	7	20	1	0	rs199659189	byFrequency	TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr11:1266537G>T	ENST00000529681.1	+	31	8485	c.8427G>T	c.(8425-8427)ctG>ctT	p.L2809L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.L2812L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2809	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		CTCCAGCCCTGTCCAGCCCTC	0.682													-|||	290	0.0579073	0.0401	0.1167	5008	,	,		17295	0.0387		0.0706	False		,,,				2504	0.047																0								ENSG00000117983																																			MUC5B	SO:0001819	synonymous_variant	0			-	HGNC	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.8427G>T	11.37:g.1266537G>T		Somatic	0	30	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L2812	ENST00000529681.1	37	c.8436	CCDS44515.2	11																																																																																			-	NULL		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	rs199659189		1266537	1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	SNP	0.000	T	T	1266537	G	T	1266537	2	4	194	1	0	0	0	0	0	0	0	1	9981	1364	48	3		3	MUC5B	11	1266537	Silent	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		1266537	133739979	27	13197											
NLRP10	338322	genome.wustl.edu	37	chr11	7981533	7981533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaatgcttcagatcctgCgctaaacagggagaaattct	8	8	2	2			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr11:7981533C>T	ENST00000328600.2	-	2	1787	c.1626G>A	c.(1624-1626)gcG>gcA	p.A542A		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	542					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGATCCTGCGCTAAACAGG	0.413																																																	0								ENSG00000182261						61	61	61					11																	7981533		2201	4296	6497	NLRP10	SO:0001819	synonymous_variant	0			-	HGNC	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1626G>A	11.37:g.7981533C>T		Somatic	0	27	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	Q2M3C4|Q6JGT0	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A542	ENST00000328600.2	37	c.1626	CCDS7784.1	11																																																																																			-	NULL		0.413	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	protein_coding	OTTHUMT00000385705.1	C	NM_176821	-		7981533	-1	no_errors	ENST00000328600	ensembl	human	known	74_37	silent	SNP	0.271	T	T	7981533	C	T	7981533	2	4	194	1	0	0	0	0	0	0	0	1	10474	755	27	1		1	NLRP10	11	7981533	Silent	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	6714996	7981533	127024983	28	13198											
SPTBN2	6712	genome.wustl.edu	37	chr11	66468674	66468675	+	Frame_Shift_Ins	INS	-	-	TT													gcctgggtctccgtgcactcINStaagtggtagttctggatgc							TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr11:66468674_66468675insTT	ENST00000533211.1	-	17	3226_3227	c.2895_2896insAA	c.(2893-2898)ttagagfs	p.E966fs	SPTBN2_ENST00000529997.1_Frame_Shift_Ins_p.E966fs|SPTBN2_ENST00000309996.2_Frame_Shift_Ins_p.E966fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	966					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCGTGCACTCTAAGTGGTAGT	0.609																																																	0								ENSG00000173898																																			SPTBN2	SO:0001589	frameshift_variant	0				HGNC	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2895_2896insAA	11.37:g.66468674_66468675insTT	ENSP00000432568:p.Glu966fs	Somatic	0	23	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	O14872|O14873	Frame_Shift_Ins	INS							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E965fs	ENST00000533211.1	37	c.2896_2895	CCDS8150.1	11																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.609	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	-	NM_006946			66468675	-1	no_errors	ENST00000309996	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.970	TT	TT	66468675	-	TT	66468674	7	5	194	1	0	1	1	0	0	0	0	0	15127	922	32	0	4364	0	SPTBN2	11	66468674	Frame_Shift_Ins	INS	-	TCGA-PT-A8TR-01A-11D-A37C-09	58487141	66468674	68537842	29	13199											
CNTN5	53942	genome.wustl.edu	37	chr11	100170065	100170065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaagtgaaagttggcGtttataacaataaaggagat	10	4	0	3	rs202207695		TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr11:100170065G>A	ENST00000524871.1	+	20	2847	c.2557G>A	c.(2557-2559)Gtt>Att	p.V853I	CNTN5_ENST00000279463.3_Missense_Mutation_p.V853I|CNTN5_ENST00000528682.1_Missense_Mutation_p.V853I|CNTN5_ENST00000527185.1_Missense_Mutation_p.V853I|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.V779I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	853	Fibronectin type-III 2. {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)		GAAAGTTGGCGTTTATAACAA	0.368																																																	0								ENSG00000149972	G	ILE/VAL,ILE/VAL	2,3680		0,2,1839	101	97	98		2557,2335	5.6	1	11		98	1,8157		0,1,4078	yes	missense,missense	CNTN5	NM_014361.3,NM_175566.2	29,29	0,3,5917	AA,AG,GG		0.0123,0.0543,0.0253	probably-damaging,probably-damaging	853/1101,779/1027	100170065	3,11837	1841	4079	5920	CNTN5	SO:0001583	missense	0			-	HGNC	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.2557G>A	11.37:g.100170065G>A	ENSP00000435637:p.Val853Ile	Somatic	0	39	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	22	43.59	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V853I	ENST00000524871.1	37	c.2557	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.060340	0.93846	5.43E-4	1.23E-4	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.79850	-0.1629	10	0.72032	D	0.01	.	18.6488	0.91421	0.0:0.0:1.0:0.0	.	779;853	O94779-2;O94779	.;CNTN5_HUMAN	I	853;853;853;779;853	ENSP00000433575:V853I;ENSP00000436185:V853I;ENSP00000435637:V853I;ENSP00000393229:V779I;ENSP00000279463:V853I	ENSP00000279463:V853I	V	+	1	0	CNTN5	99675275	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.910000	0.87451	2.660000	0.90430	0.650000	0.86243	GTT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.368	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	G	NM_014361	rs202207695		100170065	1	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100170065	G	A	100170065	3	1	194	1	0	0	0	0	1	0	0	0	3646	1145	40	1	2627	1	CNTN5	11	100170065	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	33701391	100170065	34836451	30	13200											
GYS2	2998	genome.wustl.edu	37	chr12	21716178	21716178	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacccatagaaatgacctcGaacaaaatcttggattctgg	7	9	2	2	rs267603422		TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr12:21716178G>A	ENST00000261195.2	-	6	1179	c.925C>T	c.(925-927)Cga>Tga	p.R309*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	309					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAATGACCTCGAACAAAATCT	0.323																																					Colon(149;9 1820 3690 10544 50424)												0								ENSG00000111713						81	85	83					12																	21716178		2203	4300	6503	GYS2	SO:0001587	stop_gained	0			-	HGNC		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.925C>T	12.37:g.21716178G>A	ENSP00000261195:p.Arg309*	Somatic	0	33	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	33.33	A0AVD8	Nonsense_Mutation	SNP							pfam_Glycogen_synth,pfam_Glyco_trans_1	p.R309*	ENST00000261195.2	37	c.925	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.590206	0.98378	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.799	13.6703	0.62420	0.0:0.0:0.8457:0.1543	.	.	.	.	X	309	.	ENSP00000261195:R309X	R	-	1	2	GYS2	21607445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.069000	0.57541	2.650000	0.89964	0.655000	0.94253	CGA	-	pfam_Glycogen_synth		0.323	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	protein_coding	OTTHUMT00000402396.1	G	NM_021957	-		21716178	-1	no_errors	ENST00000261195	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	21716178	G	A	21716178	4	1	194	1	0	0	0	0	0	1	0	0	6915	1066	37	1	1230	1	GYS2	12	21716178	Nonsense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		21716178	112135717	31	13201											
BICD1	636	genome.wustl.edu	37	chr12	32520618	32520618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagattgtcagcagcctGctgcctccgtaccgccacag	10	14	1	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr12:32520618G>T	ENST00000281474.5	+	9	2882	c.2779G>T	c.(2779-2781)Gct>Tct	p.A927S	BICD1_ENST00000548411.1_Silent_p.L825L	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	927					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)			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)			TCAGCAGCCTGCTGCCTCCGT	0.493																																																	0								ENSG00000151746						104	94	97					12																	32520618		2203	4300	6503	BICD1	SO:0001583	missense	0			-	HGNC	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.2779G>T	12.37:g.32520618G>T	ENSP00000281474:p.Ala927Ser	Somatic	0	28	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP							pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.A927S	ENST00000281474.5	37	c.2779	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688858	0.68271	.	.	ENSG00000151746	ENST00000281474	T	0.50813	0.73	5.34	5.34	0.76211	.	0.000000	0.45126	D	0.000396	T	0.51109	0.1655	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.61098	-0.7131	10	0.51188	T	0.08	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	927	Q96G01	BICD1_HUMAN	S	927	ENSP00000281474:A927S	ENSP00000281474:A927S	A	+	1	0	BICD1	32411885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.920000	0.75799	2.496000	0.84212	0.655000	0.94253	GCT	-	NULL		0.493	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	protein_coding	OTTHUMT00000403380.1	G	NM_001714	-		32520618	1	no_errors	ENST00000281474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32520618	G	T	32520618	3	4	194	1	0	0	0	0	1	0	0	0	1428	1319	46	3	2813	3	BICD1	12	32520618	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	10804440	32520618	101331277	32	13202											
OS9	10956	genome.wustl.edu	37	chr12	58109574	58109574	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagggtgcaggtatctctgGggactacatcgatcgcgtgg	16	9	1	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr12:58109574G>C	ENST00000315970.7	+	6	652	c.611G>C	c.(610-612)gGg>gCg	p.G204A	OS9_ENST00000389146.6_Missense_Mutation_p.G204A|OS9_ENST00000439210.2_Missense_Mutation_p.G145A|OS9_ENST00000435406.2_Missense_Mutation_p.G152A|OS9_ENST00000552285.1_Missense_Mutation_p.G204A|OS9_ENST00000413095.2_Intron|OS9_ENST00000551035.1_Missense_Mutation_p.G171A|OS9_ENST00000389142.5_Missense_Mutation_p.G204A|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Missense_Mutation_p.G204A	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	204					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTATCTCTGGGGACTACATC	0.542																																																	0								ENSG00000135506						95	91	93					12																	58109574		2203	4300	6503	OS9	SO:0001583	missense	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.611G>C	12.37:g.58109574G>C	ENSP00000318165:p.Gly204Ala	Somatic	0	22	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.G204A	ENST00000315970.7	37	c.611	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251888	0.59212	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T	0.04317	3.87;3.87;3.87;3.87;3.65;3.87;3.65;3.65;3.87	6.04	6.04	0.98038	Mannose-6-phosphate receptor, binding (1);	0.228496	0.45361	D	0.000371	T	0.13114	0.0318	L	0.35793	1.09	0.44611	D	0.997586	D;D;B;D;B;B;D	0.76494	0.999;0.999;0.095;0.997;0.058;0.058;0.999	D;D;B;D;B;B;D	0.83275	0.994;0.965;0.156;0.978;0.074;0.05;0.996	T	0.26430	-1.0103	10	0.16896	T	0.51	.	16.0793	0.80989	0.0:0.0:1.0:0.0	.	145;171;204;204;204;204;204	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	A	204;204;145;204;171;204;152;144;204	ENSP00000450010:G204A;ENSP00000318165:G204A;ENSP00000407360:G145A;ENSP00000373798:G204A;ENSP00000447866:G171A;ENSP00000257966:G204A;ENSP00000389632:G152A;ENSP00000447719:G144A;ENSP00000373794:G204A	ENSP00000257966:G204A	G	+	2	0	OS9	56395841	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.412000	0.59787	2.873000	0.98535	0.561000	0.74099	GGG	-	superfamily_Man6P_isomerase_rcpt-bd_dom		0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58109574	1	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58109574	G	C	58109574	3	2	194	1	0	0	0	0	1	0	0	0	11274	1232	43	4	633	4	OS9	12	58109574	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	25588956	58109574	75742321	33	13203											
NAA25	80018	genome.wustl.edu	37	chr12	112491457	112491457	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcagcatatcgggtcaaaaGataactagatcagaaggaaa	9	6	3	3			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr12:112491457G>T	ENST00000261745.4	-	15	1881	c.1633C>A	c.(1633-1635)Ctt>Att	p.L545I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	545						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CGGGTCAAAAGATAACTAGAT	0.373																																																	0								ENSG00000111300						48	45	46					12																	112491457		2203	4300	6503	NAA25	SO:0001583	missense	0			-	HGNC	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1633C>A	12.37:g.112491457G>T	ENSP00000261745:p.Leu545Ile	Somatic	0	13	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	37.50	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP							pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L545I	ENST00000261745.4	37	c.1633	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200804	0.58234	.	.	ENSG00000111300	ENST00000261745	T	0.53206	0.63	5.99	5.99	0.97316	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.56340	1.77	0.80722	D	1	P;P	0.39352	0.669;0.669	B;B	0.39840	0.311;0.311	T	0.42015	-0.9476	10	0.44086	T	0.13	-12.9876	14.6024	0.68450	0.069:0.0:0.931:0.0	.	545;545	A8K8X0;Q14CX7	.;NAA25_HUMAN	I	545	ENSP00000261745:L545I	ENSP00000261745:L545I	L	-	1	0	NAA25	110975840	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.038000	0.70964	2.840000	0.97914	0.655000	0.94253	CTT	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.373	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	protein_coding	OTTHUMT00000405205.1	G	NM_024953	-		112491457	-1	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112491457	G	T	112491457	3	4	194	1	0	0	0	0	1	0	0	0	10123	942	33	3	1325	3	NAA25	12	112491457	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	54381883	112491457	21360438	34	13204											
CABP1	9478	genome.wustl.edu	37	chr12	121094036	121094036	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgctgggccctgcctgCattttcctgcgcaagggctt	11	14	0	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr12:121094036C>T	ENST00000316803.3	+	2	788				CABP1_ENST00000351200.2_Intron|CABP1_ENST00000288616.3_Silent_p.C62C|CABP1_ENST00000453000.1_Silent_p.C141C	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCCTGCCTGCATTTTCCTGC	0.652																																																	0								ENSG00000157782						26	24	25					12																	121094036		2203	4300	6503	CABP1	SO:0001627	intron_variant	0			-	HGNC	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3645C>T	12.37:g.121094036C>T		Somatic	0	33	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	19.67	O95663|Q8N6H5|Q9NZU8	Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.C62	ENST00000316803.3	37	c.186	CCDS31913.1	12																																																																																			-	NULL		0.652	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	protein_coding	OTTHUMT00000345822.1	C	NM_001033677	-		121094036	1	no_errors	ENST00000288616	ensembl	human	known	74_37	silent	SNP	1.000	T	T	121094036	C	T	121094036	1	4	194	0	1	0	0	0	0	0	0	0	2533	718	25	2		2	CABP1	12	121094036	Intron	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	8602579	121094036	12757859	35	13205											
PLCB2	5330	genome.wustl.edu	37	chr15	40594507	40594507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgggaggcgttggccGtcagcggatgtttgactagg	18	8	1	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr15:40594507G>A	ENST00000260402.3	-	5	665	c.416C>T	c.(415-417)aCg>aTg	p.T139M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T139M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T139M|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.T139M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	139					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCGTTGGCCGTCAGCGGATG	0.667																																																	0								ENSG00000137841						40	47	45					15																	40594507		2134	4234	6368	PLCB2	SO:0001583	missense	0			-	HGNC		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.416C>T	15.37:g.40594507G>A	ENSP00000260402:p.Thr139Met	Somatic	0	26	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	A8K6J2|B9EGH5	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.T139M	ENST00000260402.3	37	c.416	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465822	0.26335	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.43294	0.95;0.95;0.95	4.46	2.58	0.30949	.	1.224140	0.05280	N	0.519228	T	0.36717	0.0977	L	0.40543	1.245	0.09310	N	0.999997	P;B;D;B	0.60575	0.848;0.181;0.988;0.017	B;B;B;B	0.41894	0.355;0.079;0.369;0.056	T	0.29579	-1.0007	10	0.49607	T	0.09	.	8.5092	0.33206	0.2397:0.0:0.7603:0.0	.	139;139;139;139	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	M	139	ENSP00000260402:T139M;ENSP00000411991:T139M;ENSP00000444652:T139M	ENSP00000260402:T139M	T	-	2	0	PLCB2	38381799	0.969000	0.33509	0.243000	0.24186	0.138000	0.21146	1.911000	0.39937	0.631000	0.30412	-0.258000	0.10820	ACG	-	pirsf_PLC-beta		0.667	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	protein_coding	OTTHUMT00000418430.1	G		-		40594507	-1	no_errors	ENST00000260402	ensembl	human	known	74_37	missense	SNP	0.155	A	A	40594507	G	A	40594507	3	1	194	1	0	0	0	0	1	0	0	0	12030	1145	40	1	3253	1	PLCB2	15	40594507	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		40594507	61936885	36	13206											
NLRC3	197358	genome.wustl.edu	37	chr16	3604283	3604283	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggccaaggcctcagCcatggacctggcaccatcat	12	13	2	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr16:3604283C>T	ENST00000301749.7	-	0	2632				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGGCCTCAGCCATGGACCTG	0.602																																																	0								ENSG00000167984						101	111	108					16																	3604283		2054	4196	6250	NLRC3			0			-	HGNC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3604283C>T		Somatic	0	52	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A790T	ENST00000301749.7	37	c.2368		16	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700522	0.88924	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.55588	0.51;0.51;0.51	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	.	.	.	0.29887	N	0.825543	D	0.64830	0.994	D	0.66351	0.943	T	0.67428	-0.5673	9	0.42905	T	0.14	.	16.3245	0.82970	0.0:1.0:0.0:0.0	.	790	C9JLH9	.	T	743;743;790	ENSP00000301749:A743T;ENSP00000352039:A743T;ENSP00000414415:A790T	ENSP00000301749:A743T	A	-	1	0	NLRC3	3544284	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	4.841000	0.62824	2.450000	0.82876	0.650000	0.86243	GCT	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.602	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	polymorphic_pseudogene		C	NM_178844	-		3604283	-1	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3604283	C	T	3604283	1	4	194	0	1	0	0	0	0	0	0	0	10470	739	26	2		2	NLRC3	16	3604283	RNA	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09		3604283	86750470	37	13207											
ITGAM	3684	genome.wustl.edu	37	chr16	31339499	31339499	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcccagaaccaacaaaaccGaattccaactggagctgccg	8	14	0	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr16:31339499G>T	ENST00000287497.8	+	23	2815	c.2740G>T	c.(2740-2742)Gaa>Taa	p.E914*	ITGAM_ENST00000544665.3_Nonsense_Mutation_p.E915*			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	914					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAACAAAACCGAATTCCAACT	0.532																																																	0								ENSG00000169896						124	121	122					16																	31339499		1992	4171	6163	ITGAM	SO:0001587	stop_gained	0			-	HGNC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2740G>T	16.37:g.31339499G>T	ENSP00000287497:p.Glu914*	Somatic	0	49	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q4VAK0|Q4VAK1|Q4VAK2	Nonsense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E915*	ENST00000287497.8	37	c.2743	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.111386	0.97291	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	.	.	.	5.18	0.236	0.15471	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	0.6805	0.00874	0.2991:0.1347:0.3668:0.1994	.	.	.	.	X	915;914	.	ENSP00000287497:E914X	E	+	1	0	ITGAM	31247000	0.000000	0.05858	0.002000	0.10522	0.466000	0.32739	0.027000	0.13621	0.158000	0.19367	0.555000	0.69702	GAA	-	pfam_Integrin_alpha-2		0.532	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	protein_coding	OTTHUMT00000432816.1	G	NM_000632	-		31339499	1	no_errors	ENST00000544665	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	31339499	G	T	31339499	4	4	194	1	0	0	0	0	0	1	0	0	7889	1059	37	3	2833	3	ITGAM	16	31339499	Nonsense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09	27735216	31339499	59015254	38	13208											
CDH13	1012	genome.wustl.edu	37	chr16	83813649	83813649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgccccgttcatttaCcccacagtagctgaagtctg	8	13	2	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr16:83813649C>T	ENST00000566620.1	+	12	2048	c.1758C>T	c.(1756-1758)taC>taT	p.Y586Y	CDH13_ENST00000268613.10_Silent_p.Y633Y|CDH13_ENST00000428848.3_Silent_p.Y547Y	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	586	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGTTCATTTACCCCACAGTAG	0.483																																																	0								ENSG00000140945						103	96	98					16																	83813649		1927	4175	6102	CDH13	SO:0001819	synonymous_variant	0			-	HGNC	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1758C>T	16.37:g.83813649C>T		Somatic	0	33	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP							pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y586	ENST00000566620.1	37	c.1758	CCDS58486.1	16																																																																																			-	superfamily_Cadherin-like,pfscan_Cadherin		0.483	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	protein_coding	OTTHUMT00000432917.1	C	NM_001257	-		83813649	1	no_errors	ENST00000566620	ensembl	human	known	74_37	silent	SNP	0.998	T	T	83813649	C	T	83813649	2	4	194	1	0	0	0	0	0	0	0	1	3101	518	18	2		2	CDH13	16	83813649	Silent	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	52474150	83813649	6541104	39	13209											
BCL6B	255877	genome.wustl.edu	37	chr17	6928000	6928000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccccaagccaggctcCccagtggagacgaggcctcc	11	18	0	1	rs200357355		TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr17:6928000C>A	ENST00000293805.5	+	4	774	c.682C>A	c.(682-684)Ccc>Acc	p.P228T		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						AGCCAGGCTCCCCAGTGGAGA	0.582																																																	0								ENSG00000161940						27	34	31					17																	6928000		2081	4189	6270	BCL6B	SO:0001583	missense	0			-	HGNC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.682C>A	17.37:g.6928000C>A	ENSP00000293805:p.Pro228Thr	Somatic	0	46	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6PCB4	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P228T	ENST00000293805.5	37	c.682	CCDS42248.1	17	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808568	0.31961	.	.	ENSG00000161940	ENST00000293805	T	0.09255	3.0	5.54	3.47	0.39725	.	0.184523	0.49305	D	0.000159	T	0.04679	0.0127	N	0.08118	0	0.32296	N	0.565649	B	0.32160	0.358	B	0.26517	0.07	T	0.11867	-1.0570	10	0.46703	T	0.11	.	6.8417	0.23967	0.0:0.7145:0.1913:0.0942	.	228	Q8N143	BCL6B_HUMAN	T	228	ENSP00000293805:P228T	ENSP00000293805:P228T	P	+	1	0	BCL6B	6868724	0.189000	0.23263	0.998000	0.56505	0.966000	0.64601	1.231000	0.32624	1.567000	0.49668	0.655000	0.94253	CCC	-	NULL		0.582	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6B	protein_coding	OTTHUMT00000439455.2	C	NM_181844	-		6928000	1	no_errors	ENST00000293805	ensembl	human	known	74_37	missense	SNP	0.457	A	A	6928000	C	A	6928000	3	1	194	1	0	0	0	0	1	0	0	0	1377	623	22	3	692	3	BCL6B	17	6928000	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09		6928000	74267210	40	13210											
MAP2K3	5606	genome.wustl.edu	37	chr17	21206524	21206524	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccctggagcatctgcacagCaagctgtcggtgatccacag	12	13	1	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr17:21206524C>G	ENST00000342679.4	+	7	795	c.546C>G	c.(544-546)agC>agG	p.S182R	MAP2K3_ENST00000316920.6_Missense_Mutation_p.S153R|MAP2K3_ENST00000361818.5_Missense_Mutation_p.S153R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ATCTGCACAGCAAGCTGTCGG	0.632																																																	0								ENSG00000034152						51	43	46					17																	21206524		2203	4300	6503	MAP2K3	SO:0001583	missense	0			-	HGNC	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.546C>G	17.37:g.21206524C>G	ENSP00000345083:p.Ser182Arg	Somatic	0	53	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S182R	ENST00000342679.4	37	c.546	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908276	0.33721	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.45276	0.9;0.9	5.45	4.39	0.52855	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	0.43322	0.1242	L	0.41710	1.295	0.58432	D	0.999995	D	0.57571	0.98	P	0.58266	0.836	T	0.42172	-0.9467	10	0.52906	T	0.07	-46.9621	3.5549	0.07861	0.0:0.6392:0.0:0.3608	.	182	P46734	MP2K3_HUMAN	R	182;153;153;186	ENSP00000345083:S182R;ENSP00000355081:S153R	ENSP00000319139:S186R	S	+	3	2	MAP2K3	21147117	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.734000	0.38166	2.569000	0.86673	0.561000	0.74099	AGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.632	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	protein_coding	OTTHUMT00000259374.2	C	NM_145109	-		21206524	1	no_errors	ENST00000342679	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21206524	C	G	21206524	3	3	194	1	0	0	0	0	1	0	0	0	9240	709	25	4	572	4	MAP2K3	17	21206524	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	14278524	21206524	59988686	41	13211											
CBX8	57332	genome.wustl.edu	37	chr17	77770335	77770335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcacgaggtattccatgCgtccctgcgggtgcaaaggc	12	11	1	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr17:77770335C>T	ENST00000269385.4	-	2	191	c.74G>A	c.(73-75)cGc>cAc	p.R25H	CBX8_ENST00000485449.1_Intron	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	25	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTATTCCATGCGTCCCTGCGG	0.473																																																	0								ENSG00000141570						142	125	131					17																	77770335		2203	4300	6503	CBX8	SO:0001583	missense	0			-	HGNC	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.74G>A	17.37:g.77770335C>T	ENSP00000269385:p.Arg25His	Somatic	0	29	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q96H39|Q9NR07	Missense_Mutation	SNP							pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.R25H	ENST00000269385.4	37	c.74	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633558	0.87660	.	.	ENSG00000141570	ENST00000269385;ENST00000413392	T;T	0.73047	-0.71;0.91	4.6	4.6	0.57074	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.52532	D	0.000061	T	0.81240	0.4781	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81529	-0.0891	10	0.45353	T	0.12	-16.0757	17.7777	0.88514	0.0:1.0:0.0:0.0	.	25	Q9HC52	CBX8_HUMAN	H	25;15	ENSP00000269385:R25H;ENSP00000405058:R15H	ENSP00000269385:R25H	R	-	2	0	CBX8	75384930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.418000	0.80167	2.271000	0.75665	0.491000	0.48974	CGC	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow		0.473	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	protein_coding	OTTHUMT00000318011.1	C	NM_020649	-		77770335	-1	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77770335	C	T	77770335	3	4	194	1	0	0	0	0	1	0	0	0	2726	755	27	1	1086	1	CBX8	17	77770335	Missense_Mutation	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	56563811	77770335	3424875	42	13212											
TCEB3C	162699	genome.wustl.edu	37	chr18	44554838	44554838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctggaagcatcataaGgcgtcttggccacagagttg	12	11	2	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr18:44554838G>A	ENST00000330682.2	-	1	1611	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	459	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AGCATCATAAGGCGTCTTGGC	0.577																																																	0								ENSG00000183791						3	3	3					18																	44554838		653	1412	2065	TCEB3C	SO:0001583	missense	0			-	HGNC	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1376C>T	18.37:g.44554838G>A	ENSP00000328232:p.Pro459Leu	Somatic	0	26	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89		Missense_Mutation	SNP							pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P459L	ENST00000330682.2	37	c.1376	CCDS11931.1	18	.	.	.	.	.	.	.	.	.	.	g	14.08	2.428377	0.43122	.	.	ENSG00000183791	ENST00000330682	T	0.35048	1.33	1.37	1.37	0.22104	.	0.146689	0.31246	U	0.007986	T	0.48642	0.1511	M	0.62723	1.935	0.31560	N	0.65761	D	0.76494	0.999	D	0.71184	0.972	T	0.52675	-0.8544	10	0.66056	D	0.02	-0.3081	6.2213	0.20683	0.0:0.0:1.0:0.0	.	459	Q8NG57	ELOA3_HUMAN	L	459	ENSP00000328232:P459L	ENSP00000328232:P459L	P	-	2	0	TCEB3C	42808836	0.053000	0.20554	0.005000	0.12908	0.012000	0.07955	1.499000	0.35671	1.095000	0.41419	0.485000	0.47835	CCT	-	NULL		0.577	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3C	protein_coding	OTTHUMT00000255902.1	G	NM_145653	-		44554838	-1	no_errors	ENST00000330682	ensembl	human	known	74_37	missense	SNP	0.023	A	A	44554838	G	A	44554838	3	1	194	1	0	0	0	0	1	0	0	0	15690	1000	35	2	1911	2	TCEB3C	18	44554838	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		44554838	33522410	43	13213											
BCKDHA	593	genome.wustl.edu	37	chr19	41916828	41916828	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtgcctccacccgcagCtgccgaaggagaaggtgctg	13	13	1	1			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr19:41916828C>T	ENST00000269980.2	+	3	657	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	BCKDHA_ENST00000457836.2_Splice_Site_p.L75L|CTC-435M10.3_ENST00000540732.1_Splice_Site_p.L131L|BCKDHA_ENST00000595085.1_Splice_Site_p.L131L	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	97					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCACCCGCAGCTGCCGAAGGA	0.637																																																	0								ENSG00000248098						159	153	155					19																	41916828		2203	4300	6503	BCKDHA	SO:0001630	splice_region_variant	0			-	HGNC	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.289-1C>T	19.37:g.41916828C>T		Somatic	0	60	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B4DP47|E7EW46|Q16034|Q16472	Silent	SNP							pfam_DH_E1,pfam_Transketolase_N	p.L131	ENST00000269980.2	37	c.391	CCDS12581.1	19																																																																																			-	NULL		0.637	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	protein_coding	OTTHUMT00000398313.3	C	NM_000709	-	Silent	41916828	1	no_errors	ENST00000595085	ensembl	human	known	74_37	silent	SNP	1.000	T	T	41916828	C	T	41916828	5	4	194	1	0	0	0	0	0	0	1	0	1359	811	28	2	299	2	BCKDHA	19	41916828	Splice_Site	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09		41916828	17212155	44	13214											
ZNF285	26974	genome.wustl.edu	37	chr19	44892206	44892206	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcaatgaagcacttcttgCgaaaggtaacttaacccctt	7	11	1	1	rs73557001		TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr19:44892206C>A	ENST00000330997.4	-	4	265	c.201G>T	c.(199-201)tcG>tcT	p.S67S	ZNF285_ENST00000544719.2_Silent_p.S67S|ZNF285_ENST00000591679.1_Silent_p.S74S|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	67	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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCACTTCTTGCGAAAGGTAAC	0.413																																																	0								ENSG00000267508						87	91	89					19																	44892206		2203	4300	6503	ZNF285	SO:0001819	synonymous_variant	0			-	HGNC	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.201G>T	19.37:g.44892206C>A		Somatic	0	31	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S67	ENST00000330997.4	37	c.201	CCDS12638.1	19																																																																																			-	pfscan_Krueppel-associated_box		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	protein_coding	OTTHUMT00000443600.1	C	NM_152354	rs73557001		44892206	-1	no_errors	ENST00000330997	ensembl	human	known	74_37	silent	SNP	0.000	A	A	44892206	C	A	44892206	2	1	194	1	0	0	0	0	0	0	0	1	17829	755	27	3		3	ZNF285	19	44892206	Silent	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09	2975378	44892206	14236777	45	13215											
DHX35	60625	genome.wustl.edu	37	chr20	37617497	37617497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggggtgcagtgctgggCcacgaggtgggctactgcat	18	8	0	0			TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr20:37617497C>T	ENST00000252011.3	+	5	420	c.387C>T	c.(385-387)ggC>ggT	p.G129G	DHX35_ENST00000373325.2_Silent_p.G129G|DHX35_ENST00000373323.4_Silent_p.G98G	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	129	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CAGTGCTGGGCCACGAGGTGG	0.493																																																	0								ENSG00000101452						110	104	106					20																	37617497		2203	4300	6503	DHX35	SO:0001819	synonymous_variant	0			-	HGNC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.387C>T	20.37:g.37617497C>T		Somatic	0	28	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G129	ENST00000252011.3	37	c.387	CCDS13310.1	20																																																																																			-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.493	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	protein_coding	OTTHUMT00000079212.2	C	NM_021931	-		37617497	1	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	SNP	1.000	T	T	37617497	C	T	37617497	2	4	194	1	0	0	0	0	0	0	0	1	4510	726	26	2		2	DHX35	20	37617497	Silent	SNP	C	TCGA-PT-A8TR-01A-11D-A37C-09		37617497	25408023	46	13216											
XPNPEP3	63929	genome.wustl.edu	37	chr22	41278171	41278171	+	Frame_Shift_Del	DEL	A	A	-													gaatttcaacatcttctaccAaaaatgaaaggtaacaaatg							TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chr22:41278171delA	ENST00000357137.4	+	3	663	c.579delA	c.(577-579)ccafs	p.P193fs	XPNPEP3_ENST00000414396.1_Frame_Shift_Del_p.P193fs|XPNPEP3_ENST00000541156.1_Frame_Shift_Del_p.P193fs|XPNPEP3_ENST00000544094.1_Frame_Shift_Del_p.P170fs	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	193					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATCTTCTACCAAAAATGAAAG	0.408																																					Ovarian(145;306 1841 7037 21878 30110)												0								ENSG00000196236						52	53	53					22																	41278171		2201	4298	6499	XPNPEP3	SO:0001589	frameshift_variant	0				HGNC		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.579delA	22.37:g.41278171delA	ENSP00000349658:p.Pro193fs	Somatic	0	17	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Frame_Shift_Del	DEL							pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.M195fs	ENST00000357137.4	37	c.579	CCDS14007.1	22																																																																																			-	pfam_Aminopep_P_N		0.408	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	protein_coding	OTTHUMT00000322201.2	A	NM_022098			41278171	1	no_errors	ENST00000357137	ensembl	human	known	74_37	frame_shift_del	DEL	0.003	-	-	41278171	A	-	41278171	7	5	194	1	0	1	0	1	0	0	0	0	17451	117	5	0	589	0	XPNPEP3	22	41278171	Frame_Shift_Del	DEL	A	TCGA-PT-A8TR-01A-11D-A37C-09		41278171	10026395	47	13217											
GPR143	4935	genome.wustl.edu	37	chrX	9711677	9711677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctcctctcgttctccGtgtaaatgccttgtcttcct	5	16	3	0	rs137852297		TCGA-PT-A8TR-01A-11D-A37C-09	TCGA-PT-A8TR-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50049df-aa30-4674-8d4b-59c52a4e6a72	cc16650a-701b-47d5-83f5-556b0619165a	g.chrX:9711677G>A	ENST00000467482.1	-	6	841	c.695C>T	c.(694-696)aCg>aTg	p.T232M	GPR143_ENST00000380929.2_Missense_Mutation_p.T252M			P51810	GP143_HUMAN	G protein-coupled receptor 143	232	Necessary for its G protein-activation ability and normal distribution of melanosomes.		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells). {ECO:0000269|PubMed:9529334}.		calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTCGTTCTCCGTGTAAATGCC	0.383																																																	0			GRCh37	CM981400	GPR143	M	rs137852297	ENSG00000101850						154	131	139					X																	9711677		2203	4300	6503	GPR143	SO:0001583	missense	0			-	HGNC	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.695C>T	X.37:g.9711677G>A	ENSP00000417161:p.Thr232Met	Somatic	0	47	0		0.633977158162606				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6NTI7	Missense_Mutation	SNP							pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.T252M	ENST00000467482.1	37	c.755	CCDS14134.2	X	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263348	0.80358	.	.	ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126	D;D;D	0.99329	-5.75;-5.75;-5.75	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98948	1.0793	10	0.72032	D	0.01	-10.3298	16.3904	0.83533	0.0:0.0:1.0:0.0	.	232	P51810	GP143_HUMAN	M	232;252;148	ENSP00000417161:T232M;ENSP00000370316:T252M;ENSP00000406138:T148M	ENSP00000370316:T252M	T	-	2	0	GPR143	9671677	1.000000	0.71417	0.657000	0.29651	0.834000	0.47266	8.316000	0.89985	2.124000	0.65301	0.513000	0.50165	ACG	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like		0.383	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	protein_coding	OTTHUMT00000055714.2	G	NM_000273	-		9711677	-1	no_errors	ENST00000380929	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9711677	G	A	9711677	3	1	194	1	0	0	0	0	1	0	0	0	6653	1145	40	1	535	1	GPR143	23	9711677	Missense_Mutation	SNP	G	TCGA-PT-A8TR-01A-11D-A37C-09		9711677	145558883	48	13218											
KIF17	57576	genome.wustl.edu	37	chr1	21042109	21042109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtaggcaaagatggtGccattgtagccctcagtgac	13	10	1	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr1:21042109G>A	ENST00000247986.2	-	2	565	c.255C>T	c.(253-255)ggC>ggT	p.G85G	KIF17_ENST00000375044.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.G85G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	85	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAAAGATGGTGCCATTGTAGC	0.657																																																	0								ENSG00000117245						98	83	88					1																	21042109		2203	4300	6503	KIF17	SO:0001819	synonymous_variant	0			-	HGNC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.255C>T	1.37:g.21042109G>A		Somatic	0	42	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G85	ENST00000247986.2	37	c.255	CCDS213.1	1																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	protein_coding	OTTHUMT00000276995.1	G	NM_020816	-		21042109	-1	no_errors	ENST00000247986	ensembl	human	known	74_37	silent	SNP	1.000	A	A	21042109	G	A	21042109	2	1	195	1	0	0	0	0	0	0	0	1	8281	1306	46	2		2	KIF17	1	21042109	Silent	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09		21042109	228208512	1	13219											
ID3	3399	genome.wustl.edu	37	chr1	23885512	23885512	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtgagctcggctgtcTgattagaggaaaagagggaa	16	6	1	4			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr1:23885512T>C	ENST00000374561.5	-	2	668		c.e2-2		ID3_ENST00000486541.1_Splice_Site	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein						central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|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)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTCGGCTGTCTGATTAGAGGA	0.577																																																	0								ENSG00000117318						72	72	72					1																	23885512		2203	4300	6503	ID3	SO:0001630	splice_region_variant	0			-	HGNC	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"Basic helix-loop-helix proteins"	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.301-2A>G	1.37:g.23885512T>C		Somatic	0	53	0		0.639972928687098	13	13.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	37	43.08	A8K1T8|O75641	Splice_Site	SNP							-	e2-2	ENST00000374561.5	37	c.301-2	CCDS237.1	1	.	.	.	.	.	.	.	.	.	.	T	6.903	0.536113	0.13188	.	.	ENSG00000117318	ENST00000374561	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.205	0.54346	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ID3	23758099	1.000000	0.71417	0.987000	0.45799	0.039000	0.13416	3.621000	0.54210	2.206000	0.71126	0.482000	0.46254	.	-	-		0.577	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID3	protein_coding	OTTHUMT00000008904.1	T	NM_002167	-	Intron	23885512	-1	no_errors	ENST00000374561	ensembl	human	known	74_37	splice_site	SNP	0.997	C	C	23885512	T	C	23885512	5	2	195	1	0	0	0	0	0	0	1	0	7493	1594	55	5	64	5	ID3	1	23885512	Splice_Site	SNP	T	TCGA-QC-A6FX-01A-11D-A32I-09	2843403	23885512	225365109	2	13220											
SERBP1	26135	genome.wustl.edu	37	chr1	67891960	67891960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggtcttcttccaactcGtcttattcctaaaacgataa	4	11	4	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr1:67891960G>A	ENST00000370995.2	-	2	407	c.322C>T	c.(322-324)Cga>Tga	p.R108*	SERBP1_ENST00000370994.4_Nonsense_Mutation_p.R108*|SERBP1_ENST00000484880.1_5'Flank|SERBP1_ENST00000370990.5_Nonsense_Mutation_p.R108*|SERBP1_ENST00000361219.6_Nonsense_Mutation_p.R108*			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	108					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTTCCAACTCGTCTTATTCCT	0.408																																																	0								ENSG00000142864						135	127	129					1																	67891960		2203	4300	6503	SERBP1	SO:0001587	stop_gained	0			-	HGNC	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.322C>T	1.37:g.67891960G>A	ENSP00000360034:p.Arg108*	Somatic	0	39	0		0.639972928687098	45	8.16	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	5	84.38	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Nonsense_Mutation	SNP							pfam_HABP4_PAIRBP1-bd	p.R108*	ENST00000370995.2	37	c.322	CCDS30746.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.257297	0.97417	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.06	5.06	0.68205	.	0.055969	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.4933	15.7079	0.77598	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000354591:R108X	R	-	1	2	SERBP1	67664548	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.693000	0.54735	2.528000	0.85240	0.467000	0.42956	CGA	-	NULL		0.408	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERBP1	protein_coding	OTTHUMT00000025984.2	G	NM_001018067	-		67891960	-1	no_errors	ENST00000370995	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	67891960	G	A	67891960	4	1	195	1	0	0	0	0	0	1	0	0	14083	1153	40	1	932	1	SERBP1	1	67891960	Nonsense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	44006448	67891960	181358661	3	13221											
ITGA10	8515	genome.wustl.edu	37	chr1	145532554	145532554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcgattctttttcaAtgtcacagatgaggctgctc	10	8	3	4			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr1:145532554A>G	ENST00000369304.3	+	9	1182	c.1007A>G	c.(1006-1008)aAt>aGt	p.N336S	ITGA10_ENST00000539363.1_Missense_Mutation_p.N193S|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Missense_Mutation_p.N205S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	336	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)					TTCTTTTTCAATGTCACAGAT	0.493																																																	0								ENSG00000143127						146	139	141					1																	145532554		2203	4300	6503	ITGA10	SO:0001583	missense	0			-	HGNC	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.1007A>G	1.37:g.145532554A>G	ENSP00000358310:p.Asn336Ser	Somatic	0	24	0		0.639972928687098	0	100	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	5	85.71	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.N336S	ENST00000369304.3	37	c.1007	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982439	0.74474	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.71461	-0.57;-0.57;-0.57	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.128994	0.49916	D	0.000136	T	0.68979	0.3060	L	0.31294	0.92	0.53005	D	0.999965	P;P;D;P	0.69078	0.911;0.851;0.997;0.927	P;P;D;P	0.78314	0.756;0.623;0.991;0.842	T	0.73515	-0.3958	10	0.52906	T	0.07	.	13.4487	0.61158	1.0:0.0:0.0:0.0	.	302;205;193;336	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	S	336;302;193;205	ENSP00000358310:N336S;ENSP00000439894:N193S;ENSP00000440011:N205S	ENSP00000358310:N336S	N	+	2	0	ITGA10	144243911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.774000	0.91767	2.143000	0.66587	0.459000	0.35465	AAT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	A	NM_003637	-		145532554	1	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	SNP	1.000	G	G	145532554	A	G	145532554	3	3	195	1	0	0	0	0	1	0	0	0	7875	101	4	5	1041	5	ITGA10	1	145532554	Missense_Mutation	SNP	A	TCGA-QC-A6FX-01A-11D-A32I-09	77640594	145532554	103718067	4	13222											
RYR2	6262	genome.wustl.edu	37	chr1	237755055	237755055	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagatttttgcttagaagaAcaaagccagattacagcaca	7	8	1	4			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr1:237755055A>C	ENST00000366574.2	+	32	4494	c.4177A>C	c.(4177-4179)Aca>Cca	p.T1393P	RYR2_ENST00000542537.1_Missense_Mutation_p.T1377P|RYR2_ENST00000360064.6_Missense_Mutation_p.T1391P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1393	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTAGAAGAACAAAGCCAGA	0.378																																																	0								ENSG00000198626						106	101	103					1																	237755055		1877	4115	5992	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4177A>C	1.37:g.237755055A>C	ENSP00000355533:p.Thr1393Pro	Somatic	0	54	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T1391P	ENST00000366574.2	37	c.4171	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	a	15.34	2.804480	0.50315	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96716	-4.1;-4.06;-4.09	5.52	5.52	0.82312	B30.2/SPRY domain (1);	0.234953	0.27311	N	0.019947	D	0.90215	0.6941	N	0.14661	0.345	0.80722	D	1	P	0.47350	0.894	B	0.35550	0.205	D	0.90369	0.4379	10	0.28530	T	0.3	-13.4296	15.8169	0.78608	1.0:0.0:0.0:0.0	.	1393	Q92736	RYR2_HUMAN	P	1393;1391;1377	ENSP00000355533:T1393P;ENSP00000353174:T1391P;ENSP00000443798:T1377P	ENSP00000353174:T1391P	T	+	1	0	RYR2	235821678	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.228000	0.72288	2.311000	0.77944	0.528000	0.53228	ACA	-	pfscan_B30.2/SPRY		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	A	NM_001035	-		237755055	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	C	C	237755055	A	C	237755055	3	2	195	1	0	0	0	0	1	0	0	0	13777	43	2	5	4303	5	RYR2	1	237755055	Missense_Mutation	SNP	A	TCGA-QC-A6FX-01A-11D-A32I-09	92222501	237755055	11495566	5	13223											
LHCGR	3973	genome.wustl.edu	37	chr2	48982775	48982777	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgcagcagcagcagcagCttcagcagctgcagcgccga							TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr2:48982775_48982777delCTT	ENST00000294954.7	-	1	55_57	c.34_36delAAG	c.(34-36)aagdel	p.K12del	LHCGR_ENST00000401907.1_In_Frame_Del_p.K12del|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_In_Frame_Del_p.K12del|LHCGR_ENST00000344775.3_In_Frame_Del_p.K12del|LHCGR_ENST00000405626.1_In_Frame_Del_p.K12del	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	12					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)	gcagcagcagcttcagcagctgc	0.724																																																	0								ENSG00000138039		,	73,1487		30,13,737					,	-7.5	0		dbSNP_130	2	150,3028		37,76,1476	no	intron,coding	LHCGR,STON1-GTF2A1L	NM_001198593.1,NM_000233.3	,	67,89,2213	A1A1,A1R,RR		4.7199,4.6795,4.7066	,	,		223,4515				LHCGR	SO:0001651	inframe_deletion	0				HGNC		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.34_36delAAG	2.37:g.48982775_48982777delCTT	ENSP00000294954:p.Lys12del	Somatic	0	11	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	Q14751|Q15996|Q9UEW9	In_Frame_Del	DEL							pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.K12in_frame_del	ENST00000294954.7	37	c.36_34	CCDS1842.1	2																																																																																			-	prints_TSH_rcpt		0.724	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	CTT	NM_000233.3			48982777	-1	no_errors	ENST00000294954	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000	-	-	48982777	CTT	-	48982775	7	5	195	1	0	1	0	1	0	0	0	0	8764	796	28	0	2107	0	LHCGR	2	48982775	In_Frame_Del	DEL	CTT	TCGA-QC-A6FX-01A-11D-A32I-09		48982775	194216598	6	13224											
EHBP1	23301	genome.wustl.edu	37	chr2	63272599	63272599	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggagcaaaacaaaggcaaGatggccaagaaagaggagaa	13	6	0	4			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr2:63272599G>T	ENST00000263991.5	+	25	4142	c.3660G>T	c.(3658-3660)aaG>aaT	p.K1220N	EHBP1_ENST00000405015.3_Missense_Mutation_p.K1149N|AC009501.4_ENST00000413549.1_RNA|AC009501.4_ENST00000412297.1_RNA|EHBP1_ENST00000405289.1_Missense_Mutation_p.K1185N|EHBP1_ENST00000431489.1_Missense_Mutation_p.K1149N|AC009501.4_ENST00000437346.1_RNA|AC009501.4_ENST00000429952.1_RNA|EHBP1_ENST00000354487.3_Missense_Mutation_p.K1185N|EHBP1_ENST00000496857.1_3'UTR	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1220						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACAAAGGCAAGATGGCCAAGA	0.418																																																	0								ENSG00000115504						94	91	92					2																	63272599		2203	4300	6503	EHBP1	SO:0001583	missense	0			-	HGNC	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3660G>T	2.37:g.63272599G>T	ENSP00000263991:p.Lys1220Asn	Somatic	0	38	0		0.639972928687098	78	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K1220N	ENST00000263991.5	37	c.3660	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641777	0.47153	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.75367	-0.9;-0.9;-0.92;-0.93;-0.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	N	0.12182	0.205	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.994	T	0.70328	-0.4902	10	0.23302	T	0.38	.	13.0934	0.59178	0.0739:0.0:0.926:0.0	.	1185;1149;1220	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	N	1149;1149;1220;1185;1185;191	ENSP00000384143:K1149N;ENSP00000403783:K1149N;ENSP00000263991:K1220N;ENSP00000346482:K1185N;ENSP00000385524:K1185N	ENSP00000263991:K1220N	K	+	3	2	EHBP1	63126103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.701000	0.54793	2.781000	0.95711	0.655000	0.94253	AAG	-	NULL		0.418	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	protein_coding	OTTHUMT00000251616.1	G	NM_015252	-		63272599	1	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63272599	G	T	63272599	3	4	195	1	0	0	0	0	1	0	0	0	4977	933	33	3	3754	3	EHBP1	2	63272599	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	14289824	63272599	179926774	7	13225											
TTC30B	150737	genome.wustl.edu	37	chr2	178417110	178417110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcctggaccctggcagatCgccctcgctgtacttgatag	11	14	0	2	rs560979378		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr2:178417110C>T	ENST00000408939.3	-	1	632	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	128					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCTGGCAGATCGCCCTCGCTG	0.632																																																	0								ENSG00000196659						124	138	134					2																	178417110		2202	4299	6501	TTC30B	SO:0001583	missense	0			-	HGNC	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.382G>A	2.37:g.178417110C>T	ENSP00000386181:p.Asp128Asn	Somatic	0	22	0		0.639972928687098	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q63HQ1|Q96NE6	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR-contain_dom	p.D128N	ENST00000408939.3	37	c.382	CCDS42784.1	2	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742773	0.69418	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.77750	-1.12	4.3	4.3	0.51218	.	0.086995	0.85682	D	0.000000	D	0.87265	0.6134	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.88483	0.3070	10	0.56958	D	0.05	.	15.4721	0.75446	0.0:1.0:0.0:0.0	.	128	Q8N4P2	TT30B_HUMAN	N	81;128	ENSP00000386181:D128N	ENSP00000386181:D128N	D	-	1	0	TTC30B	178125356	1.000000	0.71417	0.884000	0.34674	0.942000	0.58702	4.202000	0.58446	2.376000	0.81061	0.655000	0.94253	GAT	-	NULL		0.632	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	protein_coding	OTTHUMT00000334193.2	C	NM_152517	-		178417110	-1	no_errors	ENST00000408939	ensembl	human	known	74_37	missense	SNP	0.989	T	T	178417110	C	T	178417110	3	4	195	1	0	0	0	0	1	0	0	0	16706	884	31	1	1619	1	TTC30B	2	178417110	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	115144511	178417110	64782263	8	13226											
RAPH1	65059	genome.wustl.edu	37	chr2	204304534	204304534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgggtgctatcattccGtttgggtcgtgtgggtggag	19	6	1	0	rs144033630		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr2:204304534G>A	ENST00000319170.5	-	14	3678	c.3379C>T	c.(3379-3381)Cgg>Tgg	p.R1127W	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1179W	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1127					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTATCATTCCGTTTGGGTCGT	0.522																																																	0								ENSG00000173166	G	TRP/ARG	1,4405		0,1,2202	116	104	108		3379	4.9	0.5	2	dbSNP_134	108	0,8600		0,0,4300	no	missense	RAPH1	NM_213589.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1127/1251	204304534	1,13005	2203	4300	6503	RAPH1	SO:0001583	missense	0			-	HGNC	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3379C>T	2.37:g.204304534G>A	ENSP00000316543:p.Arg1127Trp	Somatic	0	19	0		0.639972928687098	4	60	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q96Q37|Q9C0I2	Missense_Mutation	SNP							pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.R1179W	ENST00000319170.5	37	c.3535	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758805	0.49468	2.27E-4	0.0	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.55760	0.5;0.53	4.94	4.94	0.65067	.	0.000000	0.33235	U	0.005126	T	0.63628	0.2527	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68511	-0.5389	10	0.87932	D	0	-1.6911	18.1554	0.89689	0.0:0.0:1.0:0.0	.	1127	Q70E73	RAPH1_HUMAN	W	1127;1179	ENSP00000316543:R1127W;ENSP00000363617:R1179W	ENSP00000316543:R1127W	R	-	1	2	RAPH1	204012779	1.000000	0.71417	0.492000	0.27490	0.361000	0.29550	4.442000	0.59988	2.288000	0.76882	0.563000	0.77884	CGG	-	NULL		0.522	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	protein_coding	OTTHUMT00000256363.2	G	NM_025252	rs144033630		204304534	-1	no_errors	ENST00000374493	ensembl	human	known	74_37	missense	SNP	1.000	A	A	204304534	G	A	204304534	3	1	195	1	0	0	0	0	1	0	0	0	13058	1144	40	1	377	1	RAPH1	2	204304534	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	25887424	204304534	38894839	9	13227											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217332750	217332750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcctggacgcaattaCgcaagagcttgagagaaagg	15	7	0	3	rs2271336		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr2:217332750C>T	ENST00000357276.4	+	14	2555	c.2225C>T	c.(2224-2226)aCg>aTg	p.T742M	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T742M	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	742	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		T -> M (in dbSNP:rs2271336).		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.T742M(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GACGCAATTACGCAAGAGCTT	0.443									Schimke Immuno-Osseous Dysplasia				C|||	1	0.000199681	8e-04	0	5008	,	,		19778	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000138375	C	MET/THR,MET/THR	0,4406		0,0,2203	142	135	137		2225,2225	3	0.3	2	dbSNP_100	137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	742/955,742/955	217332750	1,13005	2203	4300	6503	SMARCAL1	SO:0001583	missense	0	Familial Cancer Database	SIOD	GMAF=0.0005	HGNC	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2225C>T	2.37:g.217332750C>T	ENSP00000349823:p.Thr742Met	Somatic	0	46	0		0.639972928687098	42	30	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP							pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T742M	ENST00000357276.4	37	c.2225	CCDS2403.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.202	-0.632212	0.03584	0.0	1.16E-4	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	T;T;T	0.80653	-1.4;-1.4;-0.98	4.85	2.98	0.34508	Helicase, C-terminal (2);	0.469252	0.24318	N	0.039572	T	0.59838	0.2223	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.52426	-0.8577	10	0.46703	T	0.11	-10.6659	7.2786	0.26297	0.0:0.6103:0.2183:0.1714	rs2271336;rs2271336	742	Q9NZC9	SMAL1_HUMAN	M	742;742;584	ENSP00000349823:T742M;ENSP00000350940:T742M;ENSP00000375974:T584M	ENSP00000349823:T742M	T	+	2	0	SMARCAL1	217040995	0.004000	0.15560	0.266000	0.24541	0.040000	0.13550	0.654000	0.24918	1.283000	0.44513	-0.137000	0.14449	ACG	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.443	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	C		rs2271336		217332750	1	no_errors	ENST00000357276	ensembl	human	known	74_37	missense	SNP	0.016	T	T	217332750	C	T	217332750	3	4	195	1	0	0	0	0	1	0	0	0	14781	536	19	1	2271	1	SMARCAL1	2	217332750	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	13028216	217332750	25866623	10	13228											
RNF25	64320	genome.wustl.edu	37	chr2	219529965	219529965	+	Frame_Shift_Del	DEL	T	T	-													actggacactgcacaccgacTgccttctaaaaaagagaaaa							TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr2:219529965delT	ENST00000295704.2	-	8	1019	c.579delA	c.(577-579)gcafs	p.A193fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	193					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)		GCACACCGACTGCCTTCTAAA	0.537																																																	0								ENSG00000163481						81	77	78					2																	219529965		2203	4300	6503	RNF25	SO:0001589	frameshift_variant	0				HGNC		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.579delA	2.37:g.219529965delT	ENSP00000295704:p.Ala193fs	Somatic	0	46	0		0.639972928687098	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Del	DEL							pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING	p.V194fs	ENST00000295704.2	37	c.579	CCDS2420.1	2																																																																																			-	smart_Znf_RING,pfscan_Znf_RING		0.537	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF25	protein_coding	OTTHUMT00000256721.1	T	NM_022453			219529965	-1	no_errors	ENST00000295704	ensembl	human	known	74_37	frame_shift_del	DEL	0.233	-	-	219529965	T	-	219529965	7	5	195	1	0	1	0	1	0	0	0	0	13493	1567	55	0	812	0	RNF25	2	219529965	Frame_Shift_Del	DEL	T	TCGA-QC-A6FX-01A-11D-A32I-09	2197215	219529965	23669408	11	13229											
GPR149	344758	genome.wustl.edu	37	chr3	154055871	154055871	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacaaacgtggatgaagaatCttctgagtttggttcatggc	11	7	3	3			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr3:154055871C>T	ENST00000389740.2	-	4	1912	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	605					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATGAAGAATCTTCTGAGTTT	0.408																																																	0								ENSG00000174948						123	118	120					3																	154055871		1853	4097	5950	GPR149	SO:0001583	missense	0			-	HGNC	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1813G>A	3.37:g.154055871C>T	ENSP00000374390:p.Asp605Asn	Somatic	0	51	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D605N	ENST00000389740.2	37	c.1813	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670917	0.67814	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.56	4.68	0.58851	.	0.250743	0.38492	N	0.001664	T	0.42359	0.1199	N	0.14661	0.345	0.45464	D	0.998438	B	0.20887	0.049	B	0.17433	0.018	T	0.36648	-0.9739	9	0.87932	D	0	-9.6711	14.2764	0.66181	0.0:0.9282:0.0:0.0718	.	605	Q86SP6	GP149_HUMAN	N	605	.	ENSP00000374390:D605N	D	-	1	0	GPR149	155538565	1.000000	0.71417	0.802000	0.32245	0.959000	0.62525	5.670000	0.68088	1.337000	0.45525	0.650000	0.86243	GAT	-	NULL		0.408	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	protein_coding	OTTHUMT00000353430.1	C	XM_293580	-		154055871	-1	no_errors	ENST00000389740	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154055871	C	T	154055871	3	4	195	1	0	0	0	0	1	0	0	0	6656	913	32	2	386	2	GPR149	3	154055871	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		154055871	43966559	12	13230											
TET2	54790	genome.wustl.edu	37	chr4	106196943	106196945	+	In_Frame_Del	DEL	CTT	CTT	-													aaatggtgaacatcattcacCttctcacataatccataact							TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr4:106196943_106196945delCTT	ENST00000540549.1	+	11	6136_6138	c.5276_5278delCTT	c.(5275-5280)ccttct>cct	p.S1760del	TET2_ENST00000513237.1_In_Frame_Del_p.S1781del|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_In_Frame_Del_p.S1760del			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1760					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)		CATCATTCACCTTCTCACATAAT	0.458			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0								ENSG00000168769																																			TET2	SO:0001651	inframe_deletion	0				HGNC	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.5276_5278delCTT	4.37:g.106196943_106196945delCTT	ENSP00000442788:p.Ser1760del	Somatic	0	13	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	In_Frame_Del	DEL							NULL	p.S1760in_frame_del	ENST00000540549.1	37	c.5276_5278	CCDS47120.1	4																																																																																			-	NULL		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	CTT	NM_017628			106196945	1	no_errors	ENST00000380013	ensembl	human	known	74_37	in_frame_del	DEL	0.019:0.003:0.005	-	-	106196945	CTT	-	106196943	7	5	195	1	0	1	0	1	0	0	0	0	15777	681	24	0	5399	0	TET2	4	106196943	In_Frame_Del	DEL	CTT	TCGA-QC-A6FX-01A-11D-A32I-09		106196943	84957333	13	13231											
RNF150	57484	genome.wustl.edu	37	chr4	141888986	141888986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttactatctccttccCttttggctcaggaatcatta	6	12	3	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr4:141888986C>T	ENST00000515673.2	-	2	559	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	RNF150_ENST00000507500.1_Missense_Mutation_p.G176R|RNF150_ENST00000420921.2_Missense_Mutation_p.G35R|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Missense_Mutation_p.G176R|RNF150_ENST00000379512.2_Missense_Mutation_p.G35R			Q9ULK6	RN150_HUMAN	ring finger protein 150	176	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATCTCCTTCCCTTTTGGCTCA	0.488																																																	0								ENSG00000170153						241	206	218					4																	141888986		2203	4300	6503	RNF150	SO:0001583	missense	0			-	HGNC	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.526G>A	4.37:g.141888986C>T	ENSP00000425840:p.Gly176Arg	Somatic	0	57	0		0.639972928687098	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	59	24.36	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G176R	ENST00000515673.2	37	c.526	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.335214	0.95758	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.26518	1.87;1.87;2.89;2.89;2.89;1.73	5.88	5.88	0.94601	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.73375	-0.4002	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	176;176;176	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	R	35;35;176;176;176;7	ENSP00000368827:G35R;ENSP00000394581:G35R;ENSP00000304321:G176R;ENSP00000425840:G176R;ENSP00000425568:G176R;ENSP00000425947:G7R	ENSP00000304321:G176R	G	-	1	0	RNF150	142108436	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGG	-	pfam_Protease-assoc_domain		0.488	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	protein_coding	OTTHUMT00000364739.2	C	XM_291090	-		141888986	-1	no_errors	ENST00000515673	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141888986	C	T	141888986	3	4	195	1	0	0	0	0	1	0	0	0	13459	681	24	2	814	2	RNF150	4	141888986	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	35692043	141888986	49265290	14	13232											
TLR3	7098	genome.wustl.edu	37	chr4	187004218	187004218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtctagaaaatattttcGaaatctatctttcctacaac	5	8	3	1	rs144550375		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr4:187004218G>A	ENST00000296795.3	+	4	1482	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	TLR3_ENST00000504367.1_Missense_Mutation_p.E183K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	460					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATATTTTCGAAATCTATCT	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		19733	0		0	False		,,,				2504	0																0								ENSG00000164342	G	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	62	61	61		1378	5.6	1	4	dbSNP_134	61	0,8600		0,0,4300	no	missense	TLR3	NM_003265.2	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	460/905	187004218	2,13004	2203	4300	6503	TLR3	SO:0001583	missense	0			-	HGNC	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1378G>A	4.37:g.187004218G>A	ENSP00000296795:p.Glu460Lys	Somatic	0	37	0		0.639972928687098	4	60	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	4	84.00	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP							pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E460K	ENST00000296795.3	37	c.1378	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548680	0.65311	4.54E-4	0.0	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.57907	0.37;0.37	5.57	5.57	0.84162	.	0.097492	0.64402	D	0.000001	T	0.55481	0.1923	L	0.49455	1.56	0.39586	D	0.96951	D	0.69078	0.997	P	0.57324	0.818	T	0.54906	-0.8223	10	0.25106	T	0.35	.	6.7469	0.23466	0.1434:0.0:0.7077:0.1489	.	460	O15455	TLR3_HUMAN	K	460;460;183	ENSP00000296795:E460K;ENSP00000423684:E183K	ENSP00000296795:E460K	E	+	1	0	TLR3	187241212	1.000000	0.71417	0.974000	0.42286	0.707000	0.40811	4.081000	0.57627	2.626000	0.88956	0.557000	0.71058	GAA	-	NULL		0.473	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	G		rs144550375		187004218	1	no_errors	ENST00000296795	ensembl	human	known	74_37	missense	SNP	0.990	A	A	187004218	G	A	187004218	3	1	195	1	0	0	0	0	1	0	0	0	15959	1059	37	1	1388	1	TLR3	4	187004218	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	45115232	187004218	4150058	15	13233											
CDH12	1010	genome.wustl.edu	37	chr5	21854900	21854900	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctggagtacatatgcacCtggaaaataagacaatatca	8	8	1	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr5:21854900C>A	ENST00000382254.1	-	7	1613		c.e7-1		CDH12_ENST00000504376.2_Splice_Site|CDH12_ENST00000521384.1_Splice_Site|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACATATGCACCTGGAAAATAA	0.418										HNSCC(59;0.17)																																							0								ENSG00000154162						97	89	92					5																	21854900		2203	4299	6502	CDH12	SO:0001630	splice_region_variant	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.527-1G>T	5.37:g.21854900C>A		Somatic	0	76	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	56	29.11	B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP							-	e3-1	ENST00000382254.1	37	c.527-1	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466369	0.84425	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.937	0.92589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH12	21890657	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.726000	0.84824	2.547000	0.85894	0.650000	0.86243	.	-	-		0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	C	NM_004061	-	Intron	21854900	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	21854900	C	A	21854900	5	1	195	1	0	0	0	0	0	0	1	0	3100	695	24	3	1894	3	CDH12	5	21854900	Splice_Site	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		21854900	159060360	16	13234											
PCDH1	5097	genome.wustl.edu	37	chr5	141248186	141248186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatagttcggcctcatagGagggccgctcaaacttgggg	14	10	2	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr5:141248186G>A	ENST00000394536.3	-	2	990	c.851C>T	c.(850-852)tCc>tTc	p.S284F	PCDH1_ENST00000536585.1_Missense_Mutation_p.S262F|PCDH1_ENST00000456271.1_Missense_Mutation_p.S272F|PCDH1_ENST00000287008.3_Missense_Mutation_p.S284F|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000503492.1_Missense_Mutation_p.S284F	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	284	Cadherin 3. {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)		GGCCTCATAGGAGGGCCGCTC	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)												0								ENSG00000156453						39	41	40					5																	141248186		2203	4300	6503	PCDH1	SO:0001583	missense	0			-	HGNC	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.851C>T	5.37:g.141248186G>A	ENSP00000378043:p.Ser284Phe	Somatic	0	28	0		0.639972928687098	20	42.86	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	26	60.61	Q8IUP2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S284F	ENST00000394536.3	37	c.851	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	g	12.23	1.875511	0.33162	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.61392	0.11;0.14;0.14;0.14;0.14;0.14	4.4	4.4	0.53042	Cadherin (2);Cadherin-like (1);	0.745648	0.11910	N	0.517728	T	0.46756	0.1409	L	0.31294	0.92	0.09310	N	0.999999	B;B	0.34103	0.437;0.419	B;B	0.32211	0.067;0.142	T	0.35549	-0.9784	10	0.33940	T	0.23	.	14.8482	0.70275	0.0:0.0:1.0:0.0	.	284;284	Q08174;Q08174-2	PCDH1_HUMAN;.	F	284;284;284;272;295;262	ENSP00000424667:S284F;ENSP00000287008:S284F;ENSP00000378043:S284F;ENSP00000403497:S272F;ENSP00000350122:S295F;ENSP00000438825:S262F	ENSP00000287008:S284F	S	-	2	0	PCDH1	141228370	0.000000	0.05858	0.987000	0.45799	0.989000	0.77384	0.886000	0.28241	2.443000	0.82685	0.556000	0.70494	TCC	-	superfamily_Cadherin-like,pfscan_Cadherin		0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	protein_coding	OTTHUMT00000251862.1	G	NM_032420	-		141248186	-1	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	SNP	0.228	A	A	141248186	G	A	141248186	3	1	195	1	0	0	0	0	1	0	0	0	11508	1174	41	2	2962	2	PCDH1	5	141248186	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	119393286	141248186	39667074	17	13235											
RREB1	6239	genome.wustl.edu	37	chr6	7226806	7226806	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgggcagacctttcataCagaacaacccttcaattcct	5	13	2	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr6:7226806C>T	ENST00000349384.6	+	9	1128	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q272*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q272*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q272*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	272					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)				ACCTTTCATACAGAACAACCC	0.493																																																	0								ENSG00000124782						200	176	184					6																	7226806		2203	4300	6503	RREB1	SO:0001587	stop_gained	0			-	HGNC	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.814C>T	6.37:g.7226806C>T	ENSP00000305560:p.Gln272*	Somatic	0	27	0		0.639972928687098	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q272*	ENST00000349384.6	37	c.814	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.236669	0.98719	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-41.6506	18.2888	0.90122	0.0:1.0:0.0:0.0	.	.	.	.	X	272	.	ENSP00000335574:Q272X	Q	+	1	0	RREB1	7171805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.033000	0.76504	2.311000	0.77944	0.655000	0.94253	CAG	-	NULL		0.493	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	protein_coding	OTTHUMT00000352985.1	C		-		7226806	1	no_errors	ENST00000379938	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	7226806	C	T	7226806	4	4	195	1	0	0	0	0	0	1	0	0	13687	479	17	2	836	2	RREB1	6	7226806	Nonsense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		7226806	163888261	18	13236											
RSPH4A	345895	genome.wustl.edu	37	chr6	116949368	116949368	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caggaacccacgtcagtcctCtaggattttatcagtttggt	9	10	3	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr6:116949368C>G	ENST00000229554.5	+	3	1635	c.1498C>G	c.(1498-1500)Cta>Gta	p.L500V	RSPH4A_ENST00000368581.4_Missense_Mutation_p.L500V|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	500					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CGTCAGTCCTCTAGGATTTTA	0.468									Kartagener syndrome																																								0								ENSG00000111834						64	67	66					6																	116949368		2203	4300	6503	RSPH4A	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1498C>G	6.37:g.116949368C>G	ENSP00000229554:p.Leu500Val	Somatic	0	15	0		0.639972928687098	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP							pfam_Radial_spoke	p.L500V	ENST00000229554.5	37	c.1498	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940718	0.52972	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.17370	2.28;2.28	5.74	3.04	0.35103	.	0.181102	0.41097	D	0.000941	T	0.17492	0.0420	M	0.69463	2.115	0.42037	D	0.991057	P;D	0.67145	0.754;0.996	P;D	0.65684	0.623;0.937	T	0.11591	-1.0581	10	0.13470	T	0.59	-13.5917	9.2521	0.37562	0.0:0.7648:0.0:0.2352	.	500;500	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	V	500;500;295	ENSP00000357570:L500V;ENSP00000229554:L500V	ENSP00000229554:L500V	L	+	1	2	RSPH4A	117056061	0.272000	0.24172	0.994000	0.49952	0.984000	0.73092	0.734000	0.26101	0.371000	0.24564	-0.140000	0.14226	CTA	-	pfam_Radial_spoke		0.468	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	protein_coding	OTTHUMT00000041960.1	C	NM_001010892	-		116949368	1	no_errors	ENST00000229554	ensembl	human	known	74_37	missense	SNP	0.958	G	G	116949368	C	G	116949368	3	3	195	1	0	0	0	0	1	0	0	0	13714	912	32	4	1508	4	RSPH4A	6	116949368	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	109722562	116949368	54165699	19	13237											
TRDN	10345	genome.wustl.edu	37	chr6	123892185	123892185	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgaacgtcgtcactatgtCttctgtgactgtcctcttca	8	12	5	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr6:123892185C>T	ENST00000398178.3	-	2	136	c.115G>A	c.(115-117)Gac>Aac	p.D39N	TRDN_ENST00000542443.1_Missense_Mutation_p.D39N|TRDN_ENST00000334268.4_Missense_Mutation_p.D39N|TRDN_ENST00000546248.1_Missense_Mutation_p.D39N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	39					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.D39Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTCACTATGTCTTCTGTGACT	0.473																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000186439						107	111	110					6																	123892185		2031	4188	6219	TRDN	SO:0001583	missense	0			-	HGNC	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.115G>A	6.37:g.123892185C>T	ENSP00000381240:p.Asp39Asn	Somatic	0	34	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	43	51.14	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom	p.D39N	ENST00000398178.3	37	c.115	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617026	0.87359	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.74002	1.18;1.17;5.51;-0.8	5.82	5.82	0.92795	.	0.048178	0.85682	D	0.000000	D	0.83635	0.5297	M	0.63843	1.955	0.50813	D	0.999897	D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.995;0.995;0.996;0.996;0.996	D	0.84122	0.0407	10	0.87932	D	0	-17.7646	20.0966	0.97849	0.0:1.0:0.0:0.0	.	39;39;39;39;39	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	39	ENSP00000381240:D39N;ENSP00000333984:D39N;ENSP00000439281:D39N;ENSP00000437684:D39N	ENSP00000333984:D39N	D	-	1	0	TRDN	123933884	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.692000	0.68256	2.753000	0.94483	0.557000	0.71058	GAC	-	NULL		0.473	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	protein_coding		C		-		123892185	-1	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123892185	C	T	123892185	3	4	195	1	0	0	0	0	1	0	0	0	16475	913	32	2	2234	2	TRDN	6	123892185	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	6942817	123892185	47222882	20	13238											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885986	88885986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtatgcggttaaatcggtCgcttgccaaagaggagggat	14	7	0	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr8:88885986C>T	ENST00000319675.3	-	1	310	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	72										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTAAATCGGTCGCTTGCCAAA	0.522																																																	0								ENSG00000176566						145	134	138					8																	88885986		2203	4300	6503	DCAF4L2	SO:0001583	missense	0			-	HGNC	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.214G>A	8.37:g.88885986C>T	ENSP00000316496:p.Asp72Asn	Somatic	0	56	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	39	31.58		Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D72N	ENST00000319675.3	37	c.214	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	C	4.494	0.091657	0.08632	.	.	ENSG00000176566	ENST00000319675	T	0.69685	-0.42	1.92	-3.84	0.04256	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.182934	0.64402	D	0.000015	T	0.45836	0.1362	L	0.43152	1.355	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.18808	-1.0325	10	0.42905	T	0.14	.	1.37	0.02209	0.1622:0.3533:0.3033:0.1811	.	72	Q8NA75	DC4L2_HUMAN	N	72	ENSP00000316496:D72N	ENSP00000316496:D72N	D	-	1	0	DCAF4L2	88955102	0.991000	0.36638	0.000000	0.03702	0.001000	0.01503	-0.004000	0.12878	-1.880000	0.01125	-1.407000	0.01130	GAC	-	superfamily_WD40_repeat_dom		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	protein_coding	OTTHUMT00000375302.1	C	NM_152418	-		88885986	-1	no_errors	ENST00000319675	ensembl	human	known	74_37	missense	SNP	0.000	T	T	88885986	C	T	88885986	3	4	195	1	0	0	0	0	1	0	0	0	4274	884	31	1	977	1	DCAF4L2	8	88885986	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		88885986	57478036	21	13239											
COL14A1	7373	genome.wustl.edu	37	chr8	121275110	121275110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtttttattatagataGgcaaaagcaagaatccactg	7	5	0	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr8:121275110G>T	ENST00000297848.3	+	24	3143	c.2873G>T	c.(2872-2874)aGg>aTg	p.R958M	COL14A1_ENST00000309791.4_Missense_Mutation_p.R958M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R863M	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATTATAGATAGGCAAAAGCAA	0.353																																																	0								ENSG00000187955						62	60	61					8																	121275110		2203	4300	6503	COL14A1	SO:0001583	missense	0			-	HGNC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2873G>T	8.37:g.121275110G>T	ENSP00000297848:p.Arg958Met	Somatic	0	33	0		0.639972928687098	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00		Missense_Mutation	SNP							pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R958M	ENST00000297848.3	37	c.2873	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	6.588	0.476768	0.12521	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.05	1.0	0.19881	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.494623	0.21549	N	0.072780	T	0.36524	0.0970	N	0.14661	0.345	0.22541	N	0.99901	B;B	0.32031	0.352;0.196	B;B	0.36134	0.218;0.104	T	0.37150	-0.9718	10	0.62326	D	0.03	.	12.0822	0.53677	0.1003:0.442:0.4577:0.0	.	958;958	Q05707-2;Q05707	.;COEA1_HUMAN	M	958;958;863;771	ENSP00000311809:R958M;ENSP00000297848:R958M;ENSP00000247781:R863M;ENSP00000409461:R771M	ENSP00000247781:R863M	R	+	2	0	COL14A1	121344291	1.000000	0.71417	0.114000	0.21550	0.155000	0.21991	3.296000	0.51802	0.301000	0.22738	-0.359000	0.07587	AGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	G	NM_021110	-		121275110	1	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	SNP	0.273	T	T	121275110	G	T	121275110	3	4	195	1	0	0	0	0	1	0	0	0	3673	1000	35	3	2963	3	COL14A1	8	121275110	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	32389124	121275110	25088912	22	13240											
PYCRL	65263	genome.wustl.edu	37	chr8	144688241	144688241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctcactcaccagcagggtCtgggcagcgatgcggtgggc	15	14	3	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr8:144688241C>T	ENST00000220966.6	-	5	698	c.669G>A	c.(667-669)caG>caA	p.Q223Q	PYCRL_ENST00000377579.3_Silent_p.Q74Q|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	211					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CCAGCAGGGTCTGGGCAGCGA	0.662																																																	0								ENSG00000104524						23	23	23					8																	144688241		2199	4295	6494	PYCRL	SO:0001819	synonymous_variant	0			-	HGNC	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.669G>A	8.37:g.144688241C>T		Somatic	0	37	0		0.639972928687098	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.50	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP							superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.Q223	ENST00000220966.6	37	c.669	CCDS6407.2	8																																																																																			-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase		0.662	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCRL	protein_coding	OTTHUMT00000347081.2	C	NM_023078	-		144688241	-1	no_errors	ENST00000220966	ensembl	human	known	74_37	silent	SNP	1.000	T	T	144688241	C	T	144688241	2	4	195	1	0	0	0	0	0	0	0	1	12865	912	32	2		2	PYCRL	8	144688241	Silent	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	23413131	144688241	1675781	23	13241											
TJP2	9414	genome.wustl.edu	37	chr9	71836181	71836181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggaccgtgaccgcagcCgcggccggagcattgaccag	15	15	0	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr9:71836181C>T	ENST00000377245.4	+	5	929	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	TJP2_ENST00000453658.2_Missense_Mutation_p.R218C|TJP2_ENST00000539225.1_Missense_Mutation_p.R272C|TJP2_ENST00000348208.4_Missense_Mutation_p.R241C|TJP2_ENST00000535702.1_Missense_Mutation_p.R245C|TJP2_ENST00000265384.7_Missense_Mutation_p.R241C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	241					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACCGCAGCCGCGGCCGGAG	0.721																																																	0								ENSG00000119139						15	20	18					9																	71836181		2187	4287	6474	TJP2	SO:0001583	missense	0			-	HGNC	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.721C>T	9.37:g.71836181C>T	ENSP00000366453:p.Arg241Cys	Somatic	0	8	0		0.639972928687098	18	30.77	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP							pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.R272C	ENST00000377245.4	37	c.814	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150024	0.37923	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	4.4	2.46	0.29980	.	0.379077	0.26812	N	0.022363	T	0.54078	0.1836	L	0.46157	1.445	0.36033	D	0.83955	D;D;D;D;P	0.71674	0.998;0.987;0.987;0.978;0.935	P;P;P;B;B	0.53224	0.721;0.629;0.629;0.328;0.258	T	0.57991	-0.7715	9	.	.	.	.	4.4944	0.11830	0.2765:0.5171:0.1275:0.0789	.	272;245;241;241;241	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	C	218;241;241;241;245;272	ENSP00000392178:R218C;ENSP00000366453:R241C;ENSP00000345893:R241C;ENSP00000265384:R241C;ENSP00000442090:R245C;ENSP00000438262:R272C	.	R	+	1	0	TJP2	71026001	0.501000	0.26099	0.016000	0.15963	0.129000	0.20672	1.176000	0.31957	0.383000	0.24910	0.655000	0.94253	CGC	-	NULL		0.721	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	protein_coding	OTTHUMT00000052572.2	C	NM_201629	-		71836181	1	no_errors	ENST00000539225	ensembl	human	known	74_37	missense	SNP	0.404	T	T	71836181	C	T	71836181	3	4	195	1	0	0	0	0	1	0	0	0	15937	652	23	1	896	1	TJP2	9	71836181	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		71836181	69377250	24	13242											
MUC5B	727897	genome.wustl.edu	37	chr11	1270805	1270805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccactgccccagcacccCggccaccagctctacggcca	9	22	1	0	rs373850484	byFrequency	TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr11:1270805C>T	ENST00000529681.1	+	31	12753	c.12695C>T	c.(12694-12696)cCg>cTg	p.P4232L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P4235L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4232	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)		CCCAGCACCCCGGCCACCAGC	0.597													C|||	7	0.00139776	0.003	0.0043	5008	,	,		18628	0		0	False		,,,				2504	0																0								ENSG00000117983	C	LEU/PRO	2,3628		0,2,1813	43	48	46		12695	-6.7	0	11		46	0,8032		0,0,4016	no	missense	MUC5B	NM_002458.2	98	0,2,5829	TT,TC,CC		0.0,0.0551,0.0171	benign	4232/5763	1270805	2,11660	1815	4016	5831	MUC5B	SO:0001583	missense	0			-	HGNC	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.12695C>T	11.37:g.1270805C>T	ENSP00000436812:p.Pro4232Leu	Somatic	0	24	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P4235L	ENST00000529681.1	37	c.12704	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.733|8.733	0.917092|0.917092	0.17907|0.17907	5.51E-4|5.51E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844|ENST00000535652	T;T|.	0.17370|.	2.28;2.46|.	3.35|3.35	-6.71|-6.71	0.01760|0.01760	.|.	.|.	.|.	.|.	.|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.23854|.	0.034;0.092|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.29397|0.29397	-1.0013|-1.0013	9|6	0.87932|0.54805	D|T	0|0.06	.|.	3.2837|3.2837	0.06925|0.06925	0.1255:0.3584:0.3609:0.1552|0.1255:0.3584:0.3609:0.1552	.|.	4705;4235|.	A7Y9J9;E9PBJ0|.	.;.|.	L|W	4232;4235;4176;4082|12	ENSP00000436812:P4232L;ENSP00000415793:P4235L|.	ENSP00000343037:P4176L|ENSP00000439776:R12W	P|R	+|+	2|1	0|2	MUC5B|MUC5B	1227381|1227381	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	0.120000|0.120000	0.15647|0.15647	-1.963000|-1.963000	0.01013|0.01013	0.393000|0.393000	0.25936|0.25936	CCG|CGG	-	NULL		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093	-		1270805	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.000	T	T	1270805	C	T	1270805	3	4	195	1	0	0	0	0	1	0	0	0	9981	652	23	1	12826	1	MUC5B	11	1270805	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		1270805	133735711	25	13243											
SIPA1	6494	genome.wustl.edu	37	chr11	65413771	65413771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagcccttctgccccaCcaccatccgctcgcacttcc	5	22	1	0	rs370772263		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr11:65413771C>T	ENST00000394224.3	+	7	1639	c.1343C>T	c.(1342-1344)aCc>aTc	p.T448I	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.T448I|SIPA1_ENST00000527525.1_Missense_Mutation_p.T448I|SIPA1_ENST00000394227.3_Missense_Mutation_p.T448I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	448	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTCTGCCCCACCACCATCCGC	0.627																																																	0								ENSG00000213445	C	ILE/THR,ILE/THR	1,4401	2.1+/-5.4	0,1,2200	126	115	119		1343,1343	1.9	1	11		119	0,8594		0,0,4297	no	missense,missense	SIPA1	NM_006747.3,NM_153253.29	89,89	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	448/1043,448/1043	65413771	1,12995	2201	4297	6498	SIPA1	SO:0001583	missense	0			-	HGNC	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1343C>T	11.37:g.65413771C>T	ENSP00000377771:p.Thr448Ile	Somatic	0	42	0		0.639972928687098	91	11.65	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP							pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.T448I	ENST00000394224.3	37	c.1343	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111376	0.56398	2.27E-4	0.0	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	4.03	1.87	0.25490	Rap/ran-GAP (2);	0.275689	0.22887	U	0.054426	D	0.82490	0.5048	N	0.05078	-0.115	0.21841	N	0.999513	B;B	0.27286	0.144;0.174	B;B	0.28139	0.069;0.086	T	0.74962	-0.3485	10	0.51188	T	0.08	-5.9137	6.7977	0.23734	0.1878:0.4462:0.366:0.0	.	448;448	F6RY50;Q96FS4	.;SIPA1_HUMAN	I	448	ENSP00000436269:T448I;ENSP00000433686:T448I;ENSP00000377771:T448I;ENSP00000377774:T448I	ENSP00000377771:T448I	T	+	2	0	SIPA1	65170347	0.000000	0.05858	0.956000	0.39512	0.823000	0.46562	0.688000	0.25422	0.995000	0.38917	0.462000	0.41574	ACC	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.627	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	protein_coding	OTTHUMT00000390356.1	C	NM_006747	-		65413771	1	no_errors	ENST00000394224	ensembl	human	known	74_37	missense	SNP	0.810	T	T	65413771	C	T	65413771	3	4	195	1	0	0	0	0	1	0	0	0	14336	507	18	2	1365	2	SIPA1	11	65413771	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	64142966	65413771	69592745	26	13244											
C11orf80	79703	genome.wustl.edu	37	chr11	66589167	66589167	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttgtggagagccacAgtgtagtgcaaggttccatc	11	11	0	1	rs371664396		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr11:66589167A>T	ENST00000360962.4	+	12	1397	c.1390A>T	c.(1390-1392)Agt>Tgt	p.S464C	C11orf80_ENST00000527634.1_Missense_Mutation_p.S247C|C11orf80_ENST00000540737.1_Missense_Mutation_p.S299C|C11orf80_ENST00000532565.2_Missense_Mutation_p.S246C|C11orf80_ENST00000346672.4_Missense_Mutation_p.S310C|C11orf80_ENST00000525449.2_Missense_Mutation_p.S309C	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	464										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GGAGAGCCACAGTGTAGTGCA	0.463																																																	0								ENSG00000173715						100	100	100					11																	66589167		1979	4158	6137	C11orf80	SO:0001583	missense	0			-	HGNC			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1390A>T	11.37:g.66589167A>T	ENSP00000354227:p.Ser464Cys	Somatic	0	40	0		0.639972928687098	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q9H677	Missense_Mutation	SNP							NULL	p.S464C	ENST00000360962.4	37	c.1390	CCDS53664.1	11	.	.	.	.	.	.	.	.	.	.	A	18.61	3.662156	0.67700	.	.	ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	T	0.36699	1.24	5.4	0.163	0.14986	.	0.615639	0.16000	N	0.234365	T	0.39733	0.1089	L	0.32530	0.975	0.09310	N	1	D;D;D;D;D	0.71674	0.995;0.995;0.995;0.995;0.998	P;P;P;P;P	0.62740	0.847;0.874;0.847;0.847;0.906	T	0.18777	-1.0326	10	0.66056	D	0.02	0.0831	7.0966	0.25313	0.3621:0.5447:0.0932:0.0	.	299;310;247;309;300	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8	.;.;.;CK080_HUMAN;.	C	464;310;247;300;299;310	ENSP00000354227:S464C	ENSP00000317408:S310C	S	+	1	0	C11orf80	66345743	0.005000	0.15991	0.151000	0.22473	0.439000	0.31926	0.592000	0.23984	0.056000	0.16144	0.533000	0.62120	AGT	-	NULL		0.463	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	protein_coding		A	NM_024650	-		66589167	1	no_errors	ENST00000360962	ensembl	human	known	74_37	missense	SNP	0.011	T	T	66589167	A	T	66589167	3	4	195	1	0	0	0	0	1	0	0	0	1666	188	7	5	1436	5	C11orf80	11	66589167	Missense_Mutation	SNP	A	TCGA-QC-A6FX-01A-11D-A32I-09	1175396	66589167	68417349	27	13245											
NDUFV1	4723	genome.wustl.edu	37	chr11	67378983	67378983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgatggacttcgatgcGctggtgcaggcacagacagg	16	9	0	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr11:67378983G>A	ENST00000322776.6	+	7	1176	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	NDUFV1_ENST00000529927.1_Silent_p.A332A|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000526169.1_Intron|NDUFV1_ENST00000532303.1_Silent_p.A240A|NDUFV1_ENST00000415352.2_Silent_p.A334A	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	341			A -> V (in MT-C1D). {ECO:0000269|PubMed:10080174}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ACTTCGATGCGCTGGTGCAGG	0.637																																																	0								ENSG00000167792						84	67	73					11																	67378983		2200	4294	6494	NDUFV1	SO:0001819	synonymous_variant	0			-	HGNC	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1023G>A	11.37:g.67378983G>A		Somatic	0	43	0		0.639972928687098	297	40	198	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP							pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.A341	ENST00000322776.6	37	c.1023	CCDS8173.1	11																																																																																			-	tigrfam_NADH-UbQ_OxRdtase_suF		0.637	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	protein_coding	OTTHUMT00000388406.1	G	NM_007103	-		67378983	1	no_errors	ENST00000322776	ensembl	human	known	74_37	silent	SNP	0.111	A	A	67378983	G	A	67378983	2	1	195	1	0	0	0	0	0	0	0	1	10301	1074	38	1		1	NDUFV1	11	67378983	Silent	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	789816	67378983	67627533	28	13246											
TMEM135	65084	genome.wustl.edu	37	chr11	87024468	87024468	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattttctccttaactaggGtactagttgcttcctgcgct	8	10	1	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr11:87024468G>A	ENST00000305494.5	+	11	977	c.938G>A	c.(937-939)gGt>gAt	p.G313D	TMEM135_ENST00000532959.1_Splice_Site_p.G184D|TMEM135_ENST00000535167.1_Splice_Site_p.G174D|TMEM135_ENST00000340353.7_Splice_Site_p.G291D	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	313					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTAACTAGGGTACTAGTTGC	0.284																																																	0								ENSG00000166575						86	89	88					11																	87024468		2201	4295	6496	TMEM135	SO:0001630	splice_region_variant	0			-	HGNC	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.937-1G>A	11.37:g.87024468G>A		Somatic	0	92	0		0.639972928687098	7	46.15	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP							NULL	p.G313D	ENST00000305494.5	37	c.938	CCDS8280.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053275	0.75960	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.37411	1.58;1.58;1.58;1.2	5.48	5.48	0.80851	.	0.046428	0.85682	D	0.000000	T	0.58807	0.2148	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.76494	0.989;0.999	P;D	0.68943	0.663;0.961	T	0.56306	-0.8001	9	.	.	.	-14.2854	18.3398	0.90302	0.0:0.0:1.0:0.0	.	291;313	Q86UB9-2;Q86UB9	.;TM135_HUMAN	D	291;150;184;313;174	ENSP00000345513:G291D;ENSP00000436179:G184D;ENSP00000306344:G313D;ENSP00000439525:G174D	.	G	+	2	0	TMEM135	86702116	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.135000	0.77276	2.579000	0.87056	0.655000	0.94253	GGT	-	NULL		0.284	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM135	protein_coding	OTTHUMT00000393875.1	G	NM_022918	-	Missense_Mutation	87024468	1	no_errors	ENST00000305494	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87024468	G	A	87024468	5	1	195	1	0	0	0	0	0	0	1	0	16058	1275	44	2	980	2	TMEM135	11	87024468	Splice_Site	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	19645485	87024468	47982048	29	13247											
RAB38	23682	genome.wustl.edu	37	chr11	87882881	87882881	+	Frame_Shift_Del	DEL	C	C	-													ccatcctacgaaaccgtgctCcttgcagaactggtccatct					rs563421881	byFrequency	TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr11:87882881delC	ENST00000243662.6	-	2	527	c.445delG	c.(445-447)gagfs	p.E149fs		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	149					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCGTGCTCCTTGCAGAAC	0.413																																																	0								ENSG00000123892						160	131	140					11																	87882881		2201	4299	6500	RAB38	SO:0001589	frameshift_variant	0				HGNC	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.445delG	11.37:g.87882881delC	ENSP00000243662:p.Glu149fs	Somatic	0	51	0		0.639972928687098	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	Q53XK7	Frame_Shift_Del	DEL							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E149fs	ENST00000243662.6	37	c.445	CCDS8281.1	11																																																																																			-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.413	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB38	protein_coding	OTTHUMT00000394015.2	C				87882881	-1	no_errors	ENST00000243662	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	87882881	C	-	87882881	7	5	195	1	0	1	0	1	0	0	0	0	12936	864	30	0	198	0	RAB38	11	87882881	Frame_Shift_Del	DEL	C	TCGA-QC-A6FX-01A-11D-A32I-09	858413	87882881	47123635	30	13248											
PPFIA2	8499	genome.wustl.edu	37	chr12	81734962	81734962	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	taattgttgctttgtcctctCgaccatcttcttccacaact	4	13	3	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr12:81734962C>G	ENST00000549396.1	-	20	2448	c.2288G>C	c.(2287-2289)cGa>cCa	p.R763P	PPFIA2_ENST00000333447.7_Missense_Mutation_p.R745P|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R763P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R763P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R610P|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R763P|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R689P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R330P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R664P|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R745P	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	763					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTGTCCTCTCGACCATCTTC	0.398																																																	0								ENSG00000139220						268	261	263					12																	81734962		1919	4127	6046	PPFIA2	SO:0001583	missense	0			-	HGNC	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2288G>C	12.37:g.81734962C>G	ENSP00000450337:p.Arg763Pro	Somatic	0	66	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R763P	ENST00000549396.1	37	c.2288	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409545	0.83340	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.25085	2.16;2.16;1.82;1.83;2.16;2.16;1.83;2.16	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.56769	1.78	0.80722	D	1	B	0.30937	0.301	B	0.35770	0.21	T	0.06373	-1.0830	10	0.54805	T	0.06	-11.7971	13.7857	0.63108	0.0:0.9262:0.0:0.0738	.	763	O75334	LIPA2_HUMAN	P	763;745;330;689;774;745;763;664;763	ENSP00000450337:R763P;ENSP00000450298:R745P;ENSP00000438337:R330P;ENSP00000385093:R689P;ENSP00000327416:R745P;ENSP00000449338:R763P;ENSP00000388373:R664P;ENSP00000447868:R763P	ENSP00000327416:R745P	R	-	2	0	PPFIA2	80259093	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.632000	0.61311	2.696000	0.92011	0.655000	0.94253	CGA	-	NULL		0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	protein_coding	OTTHUMT00000408030.1	C		-		81734962	-1	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	SNP	1.000	G	G	81734962	C	G	81734962	3	3	195	1	0	0	0	0	1	0	0	0	12312	884	31	4	1537	4	PPFIA2	12	81734962	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		81734962	52116933	31	13249											
FRY	10129	genome.wustl.edu	37	chr13	32776581	32776581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaacacacggcccgctgcCacccctctacagcgtgtcac	9	18	2	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr13:32776581C>A	ENST00000380250.3	+	31	4431	c.3935C>A	c.(3934-3936)cCa>cAa	p.P1312Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1312						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGCCCGCTGCCACCCCTCTAC	0.502																																																	0								ENSG00000073910						83	84	84					13																	32776581		1994	4161	6155	FRY	SO:0001583	missense	0			-	HGNC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3935C>A	13.37:g.32776581C>A	ENSP00000369600:p.Pro1312Gln	Somatic	0	32	0		0.639972928687098	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q9Y3N6	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P1312Q	ENST00000380250.3	37	c.3935	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382026	0.61845	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23754	1.89	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	L	0.58925	1.835	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.33523	-0.9865	10	0.40728	T	0.16	.	19.1494	0.93482	0.0:1.0:0.0:0.0	.	1312	Q5TBA9	FRY_HUMAN	Q	1312;151	ENSP00000369600:P1312Q	ENSP00000369600:P1312Q	P	+	2	0	FRY	31674581	1.000000	0.71417	0.864000	0.33941	0.024000	0.10985	7.431000	0.80335	2.548000	0.85928	0.455000	0.32223	CCA	-	NULL		0.502	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	C	NM_023037	-		32776581	1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32776581	C	A	32776581	3	1	195	1	0	0	0	0	1	0	0	0	6065	594	21	3	4057	3	FRY	13	32776581	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		32776581	82393297	32	13250											
SUPT16H	11198	genome.wustl.edu	37	chr14	21830470	21830470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtataatctccttccacgGacatacttatattctgttca	4	10	3	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr14:21830470G>A	ENST00000216297.2	-	15	2017	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	560					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCCTTCCACGGACATACTTAT	0.373																																																	0								ENSG00000092201						54	50	52					14																	21830470		2203	4300	6503	SUPT16H	SO:0001583	missense	0			-	HGNC	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1679C>T	14.37:g.21830470G>A	ENSP00000216297:p.Ser560Phe	Somatic	0	40	0		0.639972928687098	100	11.5	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	64	11.11	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP							pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.S560F	ENST00000216297.2	37	c.1679	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877396	0.91664	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.72	5.72	0.89469	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88125	0.2834	9	0.87932	D	0	-12.0032	18.6573	0.91459	0.0:0.0:1.0:0.0	.	560	Q9Y5B9	SP16H_HUMAN	F	560	.	ENSP00000216297:S560F	S	-	2	0	SUPT16H	20900310	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.730000	0.91510	2.694000	0.91930	0.650000	0.86243	TCC	-	pfam_FACT_Spt16p		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	protein_coding	OTTHUMT00000074025.2	G		-		21830470	-1	no_errors	ENST00000216297	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21830470	G	A	21830470	3	1	195	1	0	0	0	0	1	0	0	0	15403	1174	41	2	1512	2	SUPT16H	14	21830470	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09		21830470	85519070	33	13251											
KIAA1409	57578	genome.wustl.edu	37	chr14	93995662	93995662	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctgattgatgttctTctgccacaaggtatggttta	12	6	2	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr14:93995662T>A	ENST00000393151.2	+	10	1083	c.1083T>A	c.(1081-1083)ctT>ctA	p.L361L	UNC79_ENST00000553484.1_Silent_p.L361L|UNC79_ENST00000256339.4_Silent_p.L184L|UNC79_ENST00000555664.1_Silent_p.L361L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	361					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGATGTTCTTCTGCCACAAG	0.323																																																	0								ENSG00000133958						127	116	120					14																	93995662		2203	4300	6503	UNC79	SO:0001819	synonymous_variant	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1083T>A	14.37:g.93995662T>A		Somatic	0	72	0		0.639972928687098	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	B5MDL6|Q6ZUT7	Silent	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.L361	ENST00000393151.2	37	c.1083		14																																																																																			-	NULL		0.323	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	T	XM_028395	-		93995662	1	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	SNP	1.000	A	A	93995662	T	A	93995662	2	1	195	1	0	0	0	0	0	0	0	1	8232	1770	62	5		5	KIAA1409	14	93995662	Silent	SNP	T	TCGA-QC-A6FX-01A-11D-A32I-09	72165192	93995662	13353878	34	13252											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890952	23890952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctccctgaaagggctgCtccagctggaccaagggggg	18	11	0	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr15:23890952C>T	ENST00000532292.1	-	1	223	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					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)		GAAAGGGCTGCTCCAGCTGGA	0.701																																																	0								ENSG00000254585						5	5	5					15																	23890952		1709	3753	5462	MAGEL2	SO:0001819	synonymous_variant	0			-	HGNC	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.129G>A	15.37:g.23890952C>T		Somatic	0	22	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	5	75.00		Silent	SNP							pfam_MAGE,pfscan_MAGE	p.E43	ENST00000532292.1	37	c.129		15	.	.	.	.	.	.	.	.	.	.	C	6.219	0.408523	0.11812	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.43	2.5	0.30297	.	.	.	.	.	T	0.60274	0.2256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57608	-0.7782	4	.	.	.	.	11.0872	0.48093	0.0:0.8105:0.1895:0.0	.	.	.	.	N	75	.	.	S	-	2	0	MAGEL2	21442045	0.015000	0.18098	1.000000	0.80357	0.189000	0.23516	0.308000	0.19314	0.990000	0.38787	0.197000	0.17608	AGC	-	NULL		0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	protein_coding	OTTHUMT00000395182.2	C	NM_019066	-		23890952	-1	no_errors	ENST00000532292	ensembl	human	known	74_37	silent	SNP	1.000	T	T	23890952	C	T	23890952	2	4	195	1	0	0	0	0	0	0	0	1	9191	796	28	2		2	MAGEL2	15	23890952	Silent	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		23890952	78640440	35	13253											
C15orf2	23742	genome.wustl.edu	37	chr15	24923532	24923532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcttgcagtctaccTttgtctccaggaaggaggag	11	10	4	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr15:24923532T>A	ENST00000329468.2	+	1	2992	c.2518T>A	c.(2518-2520)Ttt>Att	p.F840I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	840					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCAGTCTACCTTTGTCTCCAG	0.507																																																	0								ENSG00000185823						116	105	109					15																	24923532		2203	4300	6503	NPAP1	SO:0001583	missense	0			-	HGNC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2518T>A	15.37:g.24923532T>A	ENSP00000333735:p.Phe840Ile	Somatic	0	42	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28		Missense_Mutation	SNP							NULL	p.F840I	ENST00000329468.2	37	c.2518	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	12.19	1.863291	0.32884	.	.	ENSG00000185823	ENST00000329468	T	0.06528	3.29	1.83	-0.557	0.11800	.	.	.	.	.	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	B	0.27823	0.19	B	0.17722	0.019	T	0.41998	-0.9477	9	0.38643	T	0.18	.	4.2576	0.10724	0.0:0.4931:0.0:0.5069	.	840	Q9NZP6	CO002_HUMAN	I	840	ENSP00000333735:F840I	ENSP00000333735:F840I	F	+	1	0	C15orf2	22474625	0.003000	0.15002	0.000000	0.03702	0.052000	0.14988	-0.192000	0.09587	-0.150000	0.11195	0.338000	0.21704	TTT	-	NULL		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	protein_coding	OTTHUMT00000251253.1	T	NM_018958	-		24923532	1	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	SNP	0.000	A	A	24923532	T	A	24923532	3	1	195	1	0	0	0	0	1	0	0	0	1786	1609	56	5	2520	5	C15orf2	15	24923532	Missense_Mutation	SNP	T	TCGA-QC-A6FX-01A-11D-A32I-09	1032580	24923532	77607860	36	13254											
STRC	161497	genome.wustl.edu	37	chr15	43893109	43893109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctggagctcctctggcCgcagtccacagagagtataa	12	11	1	1	rs562392825		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr15:43893109C>T	ENST00000450892.2	-	25	4882	c.4805G>A	c.(4804-4806)cGg>cAg	p.R1602Q	STRC_ENST00000541030.1_Missense_Mutation_p.R829Q|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1602					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)		CTCCTCTGGCCGCAGTCCACA	0.562													C|||	1	0.000199681	0	0	5008	,	,		17183	0		0	False		,,,				2504	0.001																0								ENSG00000242866						53	73	67					15																	43893109		2199	4297	6496	STRC	SO:0001583	missense	0			-	HGNC	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.4805G>A	15.37:g.43893109C>T	ENSP00000401513:p.Arg1602Gln	Somatic	0	23	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42		Missense_Mutation	SNP							NULL	p.R1602Q	ENST00000450892.2	37	c.4805	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817173	0.70912	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.76578	-1.03;-1.03	4.37	4.37	0.52481	.	0.462268	0.19763	N	0.106634	T	0.77170	0.4091	N	0.24115	0.695	0.31524	N	0.661985	P;D	0.76494	0.588;0.999	B;D	0.63033	0.28;0.91	T	0.73319	-0.4020	10	0.18710	T	0.47	-23.9588	14.8562	0.70338	0.0:1.0:0.0:0.0	.	829;1602	F5GXA4;Q7RTU9	.;STRC_HUMAN	Q	1602;1602;829	ENSP00000401513:R1602Q;ENSP00000440413:R829Q	ENSP00000299992:R1602Q	R	-	2	0	STRC	41680401	0.113000	0.22115	1.000000	0.80357	0.890000	0.51754	1.428000	0.34892	2.453000	0.82957	0.306000	0.20318	CGG	-	NULL		0.562	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	protein_coding	OTTHUMT00000133140.1	C	NM_153700	-		43893109	-1	no_errors	ENST00000450892	ensembl	human	known	74_37	missense	SNP	0.985	T	T	43893109	C	T	43893109	3	4	195	1	0	0	0	0	1	0	0	0	15335	652	23	1	542	1	STRC	15	43893109	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	18969577	43893109	58638283	37	13255											
IGF1R	3480	genome.wustl.edu	37	chr15	99478220	99478220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgaggccgcaagcatgCgtgagaggattgagtttctc	14	8	1	3			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr15:99478220C>T	ENST00000268035.6	+	16	3735	c.3124C>T	c.(3124-3126)Cgt>Tgt	p.R1042C	IGF1R_ENST00000558762.1_Missense_Mutation_p.R1041C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1042	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.R1042C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGCAAGCATGCGTGAGAGGAT	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000140443						137	122	127					15																	99478220		2197	4297	6494	IGF1R	SO:0001583	missense	0			-	HGNC	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3124C>T	15.37:g.99478220C>T	ENSP00000268035:p.Arg1042Cys	Somatic	0	36	0		0.639972928687098	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP							pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.R1042C	ENST00000268035.6	37	c.3124	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095032	0.76870	.	.	ENSG00000140443	ENST00000268035	D	0.83335	-1.71	5.18	4.2	0.49525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000045	D	0.88455	0.6441	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	D	0.89505	0.3767	10	0.87932	D	0	.	14.4688	0.67501	0.1477:0.8523:0.0:0.0	.	1041;1042	C9J5X1;P08069	.;IGF1R_HUMAN	C	1042	ENSP00000268035:R1042C	ENSP00000268035:R1042C	R	+	1	0	IGF1R	97295743	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	2.458000	0.45014	2.422000	0.82143	0.462000	0.41574	CGT	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.468	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	protein_coding	OTTHUMT00000313537.2	C	NM_000875	-		99478220	1	no_errors	ENST00000268035	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99478220	C	T	99478220	3	4	195	1	0	0	0	0	1	0	0	0	7573	768	27	1	3186	1	IGF1R	15	99478220	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	55585111	99478220	3053172	38	13256											
CREBBP	1387	genome.wustl.edu	37	chr16	3819196	3819196	+	Frame_Shift_Del	DEL	G	G	-													tcagacctgggctcccctttGgattcaccaggatcgggctc							TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr16:3819196delG	ENST00000262367.5	-	15	3848	c.3039delC	c.(3037-3039)tccfs	p.S1013fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.S975fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1013					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTCCCCTTTGGATTCACCAG	0.592			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0								ENSG00000005339						108	91	97					16																	3819196		2197	4300	6497	CREBBP	SO:0001589	frameshift_variant	0				HGNC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3039delC	16.37:g.3819196delG	ENSP00000262367:p.Ser1013fs	Somatic	0	18	0		0.639972928687098	246	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E1016fs	ENST00000262367.5	37	c.3039	CCDS10509.1	16																																																																																			-	NULL		0.592	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	G	NM_004380			3819196	-1	no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_del	DEL	0.279	-	-	3819196	G	-	3819196	7	5	195	1	0	1	0	1	0	0	0	0	3863	1335	47	0	4357	0	CREBBP	16	3819196	Frame_Shift_Del	DEL	G	TCGA-QC-A6FX-01A-11D-A32I-09		3819196	86535557	39	13257											
XPO6	23214	genome.wustl.edu	37	chr16	28113177	28113177	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacttaccttgtggtaCagcttctgcttggtgttgag	14	8	1	1	rs370852236		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr16:28113177C>G	ENST00000304658.5	-	22	3536	c.3036G>C	c.(3034-3036)ctG>ctC	p.L1012L	XPO6_ENST00000565698.1_Silent_p.L998L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1012					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CCTTGTGGTACAGCTTCTGCT	0.488																																																	0								ENSG00000169180						64	65	65					16																	28113177		1897	4131	6028	XPO6	SO:0001819	synonymous_variant	0			-	HGNC	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.3036G>C	16.37:g.28113177C>G		Somatic	0	51	0		0.639972928687098	135	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP							pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L1012	ENST00000304658.5	37	c.3036	CCDS42135.1	16																																																																																			-	superfamily_ARM-type_fold		0.488	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	protein_coding	OTTHUMT00000433732.1	C	XM_055195	-		28113177	-1	no_errors	ENST00000304658	ensembl	human	known	74_37	silent	SNP	0.974	G	G	28113177	C	G	28113177	2	3	195	1	0	0	0	0	0	0	0	1	17455	465	17	4		4	XPO6	16	28113177	Silent	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	24293981	28113177	62241576	40	13258											
CDH8	1006	genome.wustl.edu	37	chr16	61687551	61687551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaacagagtagagttcGcccagtctcttaaagcgggg	11	11	2	2	rs200638903		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr16:61687551G>A	ENST00000577390.1	-	12	3315	c.2361C>T	c.(2359-2361)ggC>ggT	p.G787G	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	787					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTAGAGTTCGCCCAGTCTCT	0.478																																																	0								ENSG00000150394						57	60	59					16																	61687551		2202	4300	6502	CDH8	SO:0001819	synonymous_variant	0			-	HGNC	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2361C>T	16.37:g.61687551G>A		Somatic	0	35	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G787	ENST00000577390.1	37	c.2361	CCDS10802.1	16																																																																																			-	pfam_Cadherin_cytoplasmic-dom		0.478	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	protein_coding	OTTHUMT00000268754.3	G	NM_001796	-		61687551	-1	no_errors	ENST00000577390	ensembl	human	known	74_37	silent	SNP	0.524	A	A	61687551	G	A	61687551	2	1	195	1	0	0	0	0	0	0	0	1	3118	1074	38	1		1	CDH8	16	61687551	Silent	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09	33574374	61687551	28667202	41	13259											
TRADD	8717	genome.wustl.edu	37	chr16	67188599	67188599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccagcaagtcctctgCcaggctggtgagctcgttct	12	14	2	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr16:67188599C>T	ENST00000345057.4	-	5	1360	c.892G>A	c.(892-894)Gca>Aca	p.A298T	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.A238T	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	298					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AAGTCCTCTGCCAGGCTGGTG	0.672																																																	0								ENSG00000102871						26	20	22					16																	67188599		2195	4298	6493	TRADD	SO:0001583	missense	0			-	HGNC	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.892G>A	16.37:g.67188599C>T	ENSP00000341268:p.Ala298Thr	Somatic	0	42	0		0.639972928687098	82	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP							pfam_TRADD_N,pfam_Death_domain,superfamily_TRADD_N,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	p.A298T	ENST00000345057.4	37	c.892	CCDS10829.1	16	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446897	0.63178	.	.	ENSG00000102871	ENST00000345057	D	0.88509	-2.39	4.94	4.94	0.65067	Death (3);DEATH-like (2);	0.059092	0.64402	D	0.000003	D	0.93093	0.7801	M	0.75264	2.295	0.54753	D	0.999981	D	0.67145	0.996	D	0.65684	0.937	D	0.93397	0.6757	10	0.72032	D	0.01	-9.3562	12.7646	0.57385	0.1646:0.8354:0.0:0.0	.	298	Q15628	TRADD_HUMAN	T	298	ENSP00000341268:A298T	ENSP00000341268:A298T	A	-	1	0	TRADD	65746100	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.919000	0.70005	2.584000	0.87258	0.462000	0.41574	GCA	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain		0.672	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRADD	protein_coding	OTTHUMT00000268841.2	C		-		67188599	-1	no_errors	ENST00000345057	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67188599	C	T	67188599	3	4	195	1	0	0	0	0	1	0	0	0	16443	739	26	2	50	2	TRADD	16	67188599	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	5501048	67188599	23166154	42	13260											
PLCG2	5336	genome.wustl.edu	37	chr16	81934320	81934320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacctgctgttgacgaagCccacggaggccagtgctgac	14	13	0	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr16:81934320C>T	ENST00000359376.3	+	14	1511	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	433	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTGACGAAGCCCACGGAGGC	0.617																																																	0								ENSG00000197943						45	51	49					16																	81934320		2139	4255	6394	PLCG2	SO:0001583	missense	0			-	HGNC		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1297C>T	16.37:g.81934320C>T	ENSP00000352336:p.Pro433Ser	Somatic	0	40	0		0.639972928687098	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.P433S	ENST00000359376.3	37	c.1297	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829455	0.50845	.	.	ENSG00000197943	ENST00000359376	T	0.66099	-0.19	5.03	4.08	0.47627	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.052761	0.85682	D	0.000000	T	0.76898	0.4052	M	0.77820	2.39	0.80722	D	1	P;D	0.76494	0.713;0.999	B;D	0.66196	0.267;0.942	T	0.79210	-0.1897	10	0.56958	D	0.05	.	13.3659	0.60684	0.0:0.9235:0.0:0.0765	.	300;433	B4E3H3;P16885	.;PLCG2_HUMAN	S	433	ENSP00000352336:P433S	ENSP00000352336:P433S	P	+	1	0	PLCG2	80491821	1.000000	0.71417	0.993000	0.49108	0.067000	0.16453	5.623000	0.67757	1.114000	0.41781	-0.251000	0.11542	CCC	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom		0.617	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	protein_coding	OTTHUMT00000432429.1	C		-		81934320	1	no_errors	ENST00000359376	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81934320	C	T	81934320	3	4	195	1	0	0	0	0	1	0	0	0	12038	739	26	2	1347	2	PLCG2	16	81934320	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	14745721	81934320	8420433	43	13261											
RABEP1	9135	genome.wustl.edu	37	chr17	5241402	5241413	+	In_Frame_Del	DEL	AAGACAAAATTA	AAGACAAAATTA	-													ggataaactgacagaggctgAagacaaaattaaagagctgg					rs372672063		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	AAGACAAAATTA	AAGACAAAATTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr17:5241402_5241413delAAGACAAAATTA	ENST00000546142.2	+	5	804_815	c.617_628delAAGACAAAATTA	c.(616-630)gaagacaaaattaaa>gaa	p.DKIK207del	RABEP1_ENST00000341923.6_In_Frame_Del_p.DKIK207del|RABEP1_ENST00000262477.6_In_Frame_Del_p.DKIK207del|RABEP1_ENST00000537505.1_In_Frame_Del_p.DKIK164del|RABEP1_ENST00000408982.2_In_Frame_Del_p.DKIK207del			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	207					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACAGAGGCTGAAGACAAAATTAAAGAGCTGGA	0.406																																																	0								ENSG00000029725																																			RABEP1	SO:0001651	inframe_deletion	0				HGNC	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.617_628delAAGACAAAATTA	17.37:g.5241402_5241413delAAGACAAAATTA	ENSP00000437701:p.Asp207_Lys210del	Somatic					0.639972928687098	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RAG7|O95369|Q8IVX3	In_Frame_Del	DEL							pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.DKIK207in_frame_del	ENST00000546142.2	37	c.617_628	CCDS45592.1	17																																																																																			-	NULL		0.406	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	protein_coding	OTTHUMT00000439349.1	AAGACAAAATTA	NM_004703			5241413	1	no_errors	ENST00000262477	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.974:0.997:1.000:0.998:1.000	-	-	5241413	AAGACAAAATTA	-	5241402	7	5	195	1	0	1	0	1	0	0	0	0	12969	246	9	0	635	0	RABEP1	17	5241402	In_Frame_Del	DEL	AAGACAAAATTA	TCGA-QC-A6FX-01A-11D-A32I-09		5241402	75953808	44	13262											
TP53	7157	genome.wustl.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	10	12	1	0	rs121912655|rs397516437		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr17:7577556C>G	ENST00000269305.4	-	7	914	c.725G>C	c.(724-726)tGc>tCc	p.C242S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000420246.2_Missense_Mutation_p.C242S|TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|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 a familial cancer not matching 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCGCCCATGCAGGAACTGTT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	GRCh37	CM910618	TP53	M	rs121912655	ENSG00000141510						140	107	119					17																	7577556		2203	4300	6503	TP53	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;	-	HGNC	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.725G>C	17.37:g.7577556C>G	ENSP00000269305:p.Cys242Ser	Somatic	0	52	0		0.639972928687098	17	86.29	107	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	5	88.10	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C242S	ENST00000269305.4	37	c.725	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590284	0.86851	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98	4.62	4.62	0.57501	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	0.99930	0.9968	M	0.92784	3.345	0.80722	D	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	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242S;ENSP00000352610:C242S;ENSP00000269305:C242S;ENSP00000398846:C242S;ENSP00000391127:C242S;ENSP00000391478:C242S;ENSP00000425104:C110S;ENSP00000423862:C149S	ENSP00000269305:C242S	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577556	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7577556	C	G	7577556	3	3	195	1	0	0	0	0	1	0	0	0	16388	710	25	4	565	4	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	2336154	7577556	73617654	45	13263											
UBE2O	63893	genome.wustl.edu	37	chr17	74387533	74387533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgttgcctgatctcctgctCaaagacctcggggggccgcc	13	14	2	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr17:74387533C>G	ENST00000319380.7	-	18	3434	c.3370G>C	c.(3370-3372)Gag>Cag	p.E1124Q		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1124					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATCTCCTGCTCAAAGACCTCG	0.607																																																	0								ENSG00000175931						56	56	56					17																	74387533		2203	4299	6502	UBE2O	SO:0001583	missense	0			-	HGNC	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3370G>C	17.37:g.74387533C>G	ENSP00000323687:p.Glu1124Gln	Somatic	0	20	0		0.639972928687098	61	26.19	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	25.00	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E1124Q	ENST00000319380.7	37	c.3370	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744932	0.49151	.	.	ENSG00000175931	ENST00000319380	T	0.74315	-0.83	4.58	4.58	0.56647	Ubiquitin-conjugating enzyme/RWD-like (1);	0.209849	0.41001	D	0.000965	T	0.66645	0.2810	L	0.36672	1.1	0.32234	N	0.573632	B	0.19073	0.033	B	0.12156	0.007	T	0.72104	-0.4391	10	0.62326	D	0.03	-14.6494	15.7469	0.77953	0.0:1.0:0.0:0.0	.	1124	Q9C0C9	UBE2O_HUMAN	Q	1124	ENSP00000323687:E1124Q	ENSP00000323687:E1124Q	E	-	1	0	UBE2O	71899128	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.401000	0.52601	2.373000	0.80994	0.556000	0.70494	GAG	-	NULL		0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	protein_coding	OTTHUMT00000450123.1	C	NM_022066	-		74387533	-1	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	SNP	0.997	G	G	74387533	C	G	74387533	3	3	195	1	0	0	0	0	1	0	0	0	16875	835	29	4	512	4	UBE2O	17	74387533	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	66809977	74387533	6807677	46	13264											
NOTUM	147111	genome.wustl.edu	37	chr17	79916829	79916829	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgtttgcgttccacCagtaggggttctcctccggc	10	14	1	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr17:79916829C>T	ENST00000409678.3	-	4	898	c.515G>A	c.(514-516)tGg>tAg	p.W172*		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	172						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGCGTTCCACCAGTAGGGGTT	0.617																																																	0								ENSG00000185269						108	88	95					17																	79916829		2203	4300	6503	NOTUM	SO:0001587	stop_gained	0			-	HGNC	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.515G>A	17.37:g.79916829C>T	ENSP00000387310:p.Trp172*	Somatic	0	46	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	52	17.46	Q8N410|Q8NI82	Nonsense_Mutation	SNP							pfam_NOTUM	p.W172*	ENST00000409678.3	37	c.515	CCDS32771.2	17	.	.	.	.	.	.	.	.	.	.	C	37	6.176990	0.97348	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0749	0.89424	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000387310:W172X	W	-	2	0	NOTUM	77510119	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.210000	0.77924	2.266000	0.75297	0.561000	0.74099	TGG	-	pfam_NOTUM		0.617	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	protein_coding	OTTHUMT00000335123.2	C	NM_178493	-		79916829	-1	no_errors	ENST00000409678	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	79916829	C	T	79916829	4	4	195	1	0	0	0	0	0	1	0	0	10554	595	21	2	1007	2	NOTUM	17	79916829	Nonsense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	5529296	79916829	1278381	47	13265											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21912948	21912948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctccacttcttagaaGctttaaggcacattgtttat	7	9	2	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr18:21912948G>T	ENST00000319481.3	-	7	789	c.583C>A	c.(583-585)Ctt>Att	p.L195I		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	195	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCTTAGAAGCTTTAAGGCA	0.408																																																	0								ENSG00000141447						123	117	119					18																	21912948		2203	4300	6503	OSBPL1A	SO:0001583	missense	0			-	HGNC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.583C>A	18.37:g.21912948G>T	ENSP00000320291:p.Leu195Ile	Somatic	0	42	0		0.639972928687098	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L195I	ENST00000319481.3	37	c.583	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647366	0.87958	.	.	ENSG00000141447	ENST00000319481	D	0.81499	-1.5	4.84	4.84	0.62591	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91280	0.7251	M	0.88181	2.935	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.92745	0.6211	10	0.62326	D	0.03	-18.1495	18.2723	0.90072	0.0:0.0:1.0:0.0	.	195	Q9BXW6	OSBL1_HUMAN	I	195	ENSP00000320291:L195I	ENSP00000320291:L195I	L	-	1	0	OSBPL1A	20166946	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	8.855000	0.92236	2.379000	0.81126	0.650000	0.86243	CTT	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.408	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	protein_coding	OTTHUMT00000254902.1	G	NM_080597	-		21912948	-1	no_errors	ENST00000319481	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21912948	G	T	21912948	3	4	195	1	0	0	0	0	1	0	0	0	11279	971	34	3	2357	3	OSBPL1A	18	21912948	Missense_Mutation	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09		21912948	56164300	48	13266											
ZNF257	113835	genome.wustl.edu	37	chr19	22271217	22271217	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttactcgacataagatgaCtcatactggagagaaaccct	7	10	2	3			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr19:22271217C>G	ENST00000594947.1	+	4	809	c.665C>G	c.(664-666)aCt>aGt	p.T222S		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATAAGATGACTCATACTGGA	0.388																																																	0								ENSG00000197134						39	42	41					19																	22271217		2180	4289	6469	ZNF257	SO:0001583	missense	0			-	HGNC	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.665C>G	19.37:g.22271217C>G	ENSP00000470209:p.Thr222Ser	Somatic	0	35	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T222S	ENST00000594947.1	37	c.665	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021596	0.07634	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-1.85	0.07784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	N	0.17764	0.52	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20371	-1.0277	8	0.72032	D	0.01	.	2.5925	0.04846	0.2341:0.4161:0.0:0.3498	.	222	Q9Y2Q1	ZN257_HUMAN	S	222;194	.	ENSP00000380312:T194S	T	+	2	0	ZNF257	22063057	0.000000	0.05858	0.018000	0.16275	0.090000	0.18270	-1.142000	0.03203	-0.671000	0.05274	-0.657000	0.03884	ACT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	protein_coding	OTTHUMT00000464382.1	C		-		22271217	1	no_errors	ENST00000594947	ensembl	human	known	74_37	missense	SNP	0.007	G	G	22271217	C	G	22271217	3	3	195	1	0	0	0	0	1	0	0	0	17807	565	20	4	679	4	ZNF257	19	22271217	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		22271217	36857766	49	13267											
RYR1	6261	genome.wustl.edu	37	chr19	38959746	38959746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgtctgactcaggctcCgaaacagccttccgggagat	10	13	3	2	rs559858324		TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr19:38959746C>T	ENST00000359596.3	+	26	3522	c.3522C>T	c.(3520-3522)tcC>tcT	p.S1174S	RYR1_ENST00000355481.4_Silent_p.S1174S|RYR1_ENST00000360985.3_Silent_p.S1174S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1174	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	ACTCAGGCTCCGAAACAGCCT	0.562																																																	0								ENSG00000196218						107	91	97					19																	38959746		2203	4300	6503	RYR1	SO:0001819	synonymous_variant	0			-	HGNC	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.3522C>T	19.37:g.38959746C>T		Somatic	0	11	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S1174	ENST00000359596.3	37	c.3522	CCDS33011.1	19																																																																																			-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		38959746	1	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	SNP	0.032	T	T	38959746	C	T	38959746	2	4	195	1	0	0	0	0	0	0	0	1	13776	639	23	1		1	RYR1	19	38959746	Silent	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	16688529	38959746	20169237	50	13268											
CEACAM18	729767	genome.wustl.edu	37	chr19	51986521	51986521	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgacacagctgatcatgtaCatggacgtcaggatccaggc	12	10	2	2			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr19:51986521C>G	ENST00000396477.4	+	4	945	c.924C>G	c.(922-924)taC>taG	p.Y308*	CEACAM18_ENST00000451626.1_Nonsense_Mutation_p.Y369*	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	308	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGATCATGTACATGGACGTCA	0.582																																																	0								ENSG00000213822						79	80	79					19																	51986521		2106	4232	6338	CEACAM18	SO:0001587	stop_gained	0			-	HGNC			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.924C>G	19.37:g.51986521C>G	ENSP00000379738:p.Tyr308*	Somatic	0	49	0		0.639972928687098	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	61	21.79	C9JN24	Nonsense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Y369*	ENST00000396477.4	37	c.1107		19	.	.	.	.	.	.	.	.	.	.	.	10.53	1.376803	0.24857	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	.	.	.	2.53	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	5.5634	0.17157	0.0:0.8393:0.0:0.1607	.	.	.	.	X	369;308;308	.	ENSP00000379738:Y308X	Y	+	3	2	CEACAM18	56678333	0.001000	0.12720	0.021000	0.16686	0.001000	0.01503	-0.139000	0.10358	0.670000	0.31165	-0.467000	0.05162	TAC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.582	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	protein_coding	OTTHUMT00000323114.2	C		-		51986521	1	no_errors	ENST00000451626	ensembl	human	known	74_37	nonsense	SNP	0.022	G	G	51986521	C	G	51986521	4	3	195	1	0	0	0	0	0	1	0	0	3191	489	17	4	1125	4	CEACAM18	19	51986521	Nonsense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09	13026775	51986521	7142462	51	13269											
SLCO4A1	28231	genome.wustl.edu	37	chr20	61290029	61290029	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctctgcctctctcgcagCcatcttctacacagcggcca	7	19	4	0			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr20:61290029C>T	ENST00000370507.1	+	2	893	c.797C>T	c.(796-798)gCc>gTc	p.A266V	SLCO4A1_ENST00000217159.1_Splice_Site_p.A266V			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	266					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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCTCTCGCAGCCATCTTCTAC	0.682																																					Pancreas(168;741 2006 10379 40139 45334)												0								ENSG00000101187						25	23	24					20																	61290029		2200	4300	6500	SLCO4A1	SO:0001630	splice_region_variant	0			-	HGNC	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.797-1C>T	20.37:g.61290029C>T		Somatic	0	30	0		0.639972928687098	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	62	15.07	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.A266V	ENST00000370507.1	37	c.797	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565274	0.45694	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.48201	0.82;0.82	4.42	3.44	0.39384	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.133866	0.47852	D	0.000210	T	0.71879	0.3392	M	0.90977	3.165	0.41003	D	0.984944	D	0.57257	0.979	D	0.66979	0.948	T	0.77970	-0.2387	9	.	.	.	.	12.3135	0.54942	0.0:0.829:0.171:0.0	.	266	Q96BD0	SO4A1_HUMAN	V	266	ENSP00000217159:A266V;ENSP00000359538:A266V	.	A	+	2	0	SLCO4A1	60760474	0.987000	0.35691	0.977000	0.42913	0.054000	0.15201	2.176000	0.42500	0.789000	0.33779	0.561000	0.74099	GCC	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.682	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	protein_coding	OTTHUMT00000080048.2	C	NM_016354	-	Missense_Mutation	61290029	1	no_errors	ENST00000217159	ensembl	human	known	74_37	missense	SNP	0.995	T	T	61290029	C	T	61290029	5	4	195	1	0	0	0	0	0	0	1	0	14737	753	26	2	803	2	SLCO4A1	20	61290029	Splice_Site	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		61290029	1735491	52	13270											
TRPM2	7226	genome.wustl.edu	37	chr21	45858991	45858991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctacctcggaagctgaaGcggatcctccggcaggagca	13	12	0	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chr21:45858991G>A	ENST00000397928.1	+	30	4654	c.4209G>A	c.(4207-4209)aaG>aaA	p.K1403K	TRPM2_ENST00000397932.2_Silent_p.K1453K|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300482.5_Silent_p.K1403K|snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000300481.9_Silent_p.K1349K	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1403	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGAAGCTGAAGCGGATCCTCC	0.617																																																	0								ENSG00000142185						95	72	80					21																	45858991		2203	4300	6503	TRPM2	SO:0001819	synonymous_variant	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4209G>A	21.37:g.45858991G>A		Somatic	0	17	0		0.639972928687098	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	3	60.00	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP							pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.K1403	ENST00000397928.1	37	c.4209	CCDS13710.1	21																																																																																			-	superfamily_NUDIX_hydrolase_dom-like		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	G	NM_003307	-		45858991	1	no_errors	ENST00000300482	ensembl	human	known	74_37	silent	SNP	0.903	A	A	45858991	G	A	45858991	2	1	195	1	0	0	0	0	0	0	0	1	16593	962	34	2		2	TRPM2	21	45858991	Silent	SNP	G	TCGA-QC-A6FX-01A-11D-A32I-09		45858991	2270904	53	13271											
FRMPD4	9758	genome.wustl.edu	37	chrX	12736058	12736058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgatggtgaggggaaggCaccccctaatgggaacacaa	15	10	0	1			TCGA-QC-A6FX-01A-11D-A32I-09	TCGA-QC-A6FX-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd49624-3dbe-45eb-8820-7e13da9cdcaa	2cdf6c47-3638-4511-8a87-1247ddcbaccb	g.chrX:12736058C>T	ENST00000380682.1	+	16	3619	c.3113C>T	c.(3112-3114)gCa>gTa	p.A1038V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1038					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGGGGAAGGCACCCCCTAAT	0.512																																																	0								ENSG00000169933						98	80	86					X																	12736058		2203	4300	6503	FRMPD4	SO:0001583	missense	0			-	HGNC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3113C>T	X.37:g.12736058C>T	ENSP00000370057:p.Ala1038Val	Somatic	0	15	0		0.639972928687098	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	5	72.22	A8K0X9|O15032	Missense_Mutation	SNP							pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.A1038V	ENST00000380682.1	37	c.3113	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	0.828	-0.746395	0.03065	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05513	3.43	5.14	0.197	0.15164	.	1.212630	0.05473	N	0.553496	T	0.05318	0.0141	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46652	-0.9176	10	0.15499	T	0.54	0.1566	5.8467	0.18669	0.0:0.4909:0.2263:0.2829	.	1030;1038	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	1038;1029;1027	ENSP00000370057:A1038V	ENSP00000304583:A1027V	A	+	2	0	FRMPD4	12645979	0.001000	0.12720	0.009000	0.14445	0.189000	0.23516	0.195000	0.17155	-0.137000	0.11455	0.513000	0.50165	GCA	-	NULL		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	C	XM_045712	-		12736058	1	no_errors	ENST00000380682	ensembl	human	known	74_37	missense	SNP	0.003	T	T	12736058	C	T	12736058	3	4	195	1	0	0	0	0	1	0	0	0	6061	710	25	2	3175	2	FRMPD4	23	12736058	Missense_Mutation	SNP	C	TCGA-QC-A6FX-01A-11D-A32I-09		12736058	142534502	54	13272											
SCNN1D	6339	genome.wustl.edu	37	chr1	1222294	1222294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccccttccacctggaccGggagatccgtctgcagaggc	12	17	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1222294G>A	ENST00000338555.2	+	5	1710	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	SCNN1D_ENST00000379116.5_Missense_Mutation_p.R353Q|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R255Q|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R189Q			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	189					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CACCTGGACCGGGAGATCCGT	0.657																																																	0								ENSG00000162572						32	41	38					1																	1222294		2191	4293	6484	SCNN1D	SO:0001583	missense	0			-	HGNC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.566G>A	1.37:g.1222294G>A	ENSP00000339504:p.Arg189Gln	Somatic	0	35	0		0.52429534266604	7	36.36	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R353Q	ENST00000338555.2	37	c.1058		1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253717	0.39797	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69806	-0.43;-0.37;-0.42;-0.37	4.29	1.78	0.24846	.	1.359190	0.05360	U	0.533429	T	0.69015	0.3064	M	0.64260	1.97	0.21020	N	0.999807	P;B	0.47191	0.891;0.031	P;B	0.48921	0.595;0.003	T	0.51284	-0.8725	10	0.23891	T	0.37	.	7.5	0.27511	0.3645:0.0:0.6355:0.0	.	189;353	P51172;A6NNF7	SCNND_HUMAN;.	Q	220;353;189;255;189	ENSP00000368411:R353Q;ENSP00000339504:R189Q;ENSP00000321594:R255Q;ENSP00000383717:R189Q	ENSP00000321594:R255Q	R	+	2	0	SCNN1D	1212157	0.000000	0.05858	0.185000	0.23176	0.353000	0.29299	0.197000	0.17197	0.059000	0.16252	0.313000	0.20887	CGG	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	protein_coding	OTTHUMT00000005802.2	G	NM_002978	-		1222294	1	no_errors	ENST00000379116	ensembl	human	known	74_37	missense	SNP	0.390	A	A	1222294	G	A	1222294	3	1	196	1	0	0	0	0	1	0	0	0	13937	1116	39	1	782	1	SCNN1D	1	1222294	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		1222294	248028327	1	13273											
DVL1	1855	genome.wustl.edu	37	chr1	1275689	1275689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcggttatgctgctgaagGaggaggcctatggaggagag	18	5	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1275689G>A	ENST00000378888.5	-	7	991	c.707C>T	c.(706-708)tCc>tTc	p.S236F	DVL1_ENST00000378891.5_Missense_Mutation_p.S236F			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	236					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTGCTGAAGGAGGAGGCCTA	0.662																																																	0								ENSG00000107404						133	117	122					1																	1275689		2202	4297	6499	DVL1	SO:0001583	missense	0			-	HGNC	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.707C>T	1.37:g.1275689G>A	ENSP00000368166:p.Ser236Phe	Somatic	0	57	0		0.52429534266604	63	41.67	45	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	39	40.91	Q5TA33|Q5TA35	Missense_Mutation	SNP							pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.S236F	ENST00000378888.5	37	c.707		1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279643	0.59758	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.40225	1.04;1.04	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73839	-0.3856	10	0.87932	D	0	.	15.868	0.79080	0.0:0.0:1.0:0.0	.	236	O14640-2	.	F	236	ENSP00000368169:S236F;ENSP00000368166:S236F	ENSP00000368166:S236F	S	-	2	0	DVL1	1265552	1.000000	0.71417	0.997000	0.53966	0.203000	0.24098	9.431000	0.97494	2.038000	0.60285	0.456000	0.33151	TCC	-	superfamily_PDZ		0.662	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	protein_coding	OTTHUMT00000008490.1	G	NM_004421	-		1275689	-1	no_errors	ENST00000378888	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1275689	G	A	1275689	3	1	196	1	0	0	0	0	1	0	0	0	4837	1174	41	2	1341	2	DVL1	1	1275689	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	53395	1275689	247974932	2	13274											
ATAD3B	83858	genome.wustl.edu	37	chr1	1412669	1412669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggttacgccaaggaggCcctgaatctggcgcagatgc	14	12	1	2	rs148312059		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1412669C>T	ENST00000308647.7	+	2	337	c.221C>T	c.(220-222)gCc>gTc	p.A74V	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	74						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCAAGGAGGCCCTGAATCTG	0.612																																																	0								ENSG00000160072	C	VAL/ALA	0,4406		0,0,2203	46	43	44		221	2.9	0.9	1	dbSNP_134	44	1,8589		0,1,4294	no	missense	ATAD3B	NM_031921.4	64	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	74/649	1412669	1,12995	2203	4295	6498	ATAD3B	SO:0001583	missense	0			-	HGNC	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.221C>T	1.37:g.1412669C>T	ENSP00000311766:p.Ala74Val	Somatic	0	65	0		0.52429534266604	8	11.11	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	37.70	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP							pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A74V	ENST00000308647.7	37	c.221	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.827079	0.50739	0.0	1.16E-4	ENSG00000160072	ENST00000360489;ENST00000308647	T	0.32023	1.47	2.9	2.9	0.33743	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.057449	0.64402	D	0.000001	T	0.47021	0.1423	L	0.55834	1.745	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.42816	-0.9429	10	0.41790	T	0.15	.	12.9335	0.58301	0.0:1.0:0.0:0.0	.	74	Q5T9A4	ATD3B_HUMAN	V	74	ENSP00000311766:A74V	ENSP00000311766:A74V	A	+	2	0	ATAD3B	1402532	1.000000	0.71417	0.910000	0.35882	0.020000	0.10135	6.326000	0.72905	1.460000	0.47911	0.306000	0.20318	GCC	-	pfam_DUF3523		0.612	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	protein_coding	OTTHUMT00000001369.2	C	NM_031921	rs148312059		1412669	1	no_errors	ENST00000308647	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1412669	C	T	1412669	3	4	196	1	0	0	0	0	1	0	0	0	1074	739	26	2	227	2	ATAD3B	1	1412669	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	136980	1412669	247837952	3	13275											
PLCH2	9651	genome.wustl.edu	37	chr1	2428090	2428090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagctgtcccgggccctctCtgacctggtgaagtacacca	11	14	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:2428090C>T	ENST00000419816.2	+	14	2154	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.S627F|PLCH2_ENST00000378486.3_Missense_Mutation_p.S627F|PLCH2_ENST00000449969.1_Missense_Mutation_p.S600F|RP3-395M20.3_ENST00000442305.1_RNA			O75038	PLCH2_HUMAN	phospholipase C, eta 2	627	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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)			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)		CGGGCCCTCTCTGACCTGGTG	0.677																																																	0								ENSG00000149527						28	34	32					1																	2428090		1981	4147	6128	PLCH2	SO:0001583	missense	0			-	HGNC	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.1880C>T	1.37:g.2428090C>T	ENSP00000389803:p.Ser627Phe	Somatic	0	114	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	93	36.73	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S627F	ENST00000419816.2	37	c.1880		1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880295	0.91740	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.71222	-0.55;-0.55;-0.55	4.57	4.57	0.56435	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.89385	0.6700	H	0.97103	3.94	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;0.999;1.0	D	0.93269	0.6650	10	0.87932	D	0	.	16.3491	0.83195	0.0:1.0:0.0:0.0	.	474;415;600;627	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	F	600;627;627;474;415	ENSP00000397289:S600F;ENSP00000367747:S627F;ENSP00000367749:S627F	ENSP00000278878:S415F	S	+	2	0	PLCH2	2417950	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.165000	0.77544	2.087000	0.62958	0.561000	0.74099	TCT	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.677	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	protein_coding	OTTHUMT00000467514.1	C	NM_014638	-		2428090	1	no_errors	ENST00000378486	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2428090	C	T	2428090	3	4	196	1	0	0	0	0	1	0	0	0	12040	913	32	2	1934	2	PLCH2	1	2428090	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1015421	2428090	246822531	4	13276											
ARHGEF16	27237	genome.wustl.edu	37	chr1	3389732	3389732	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcacgctgagaagcacttCcacccctacatcgcctactg	8	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:3389732C>T	ENST00000378378.4	+	7	1518	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ARHGEF16_ENST00000378373.1_Silent_p.F83F|ARHGEF16_ENST00000413250.2_Silent_p.F75F|ARHGEF16_ENST00000378371.2_Silent_p.F83F	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	371	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGAAGCACTTCCACCCCTACA	0.627																																																	0								ENSG00000130762						161	115	130					1																	3389732		2203	4300	6503	ARHGEF16	SO:0001819	synonymous_variant	0			-	HGNC	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1113C>T	1.37:g.3389732C>T		Somatic	0	19	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	Q86TF0|Q99434	Silent	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F371	ENST00000378378.4	37	c.1113	CCDS46.2	1																																																																																			-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.627	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	protein_coding	OTTHUMT00000001515.1	C	NM_014448	-		3389732	1	no_errors	ENST00000378378	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3389732	C	T	3389732	2	4	196	1	0	0	0	0	0	0	0	1	899	854	30	2		2	ARHGEF16	1	3389732	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	961642	3389732	245860889	5	13277											
MEGF6	1953	genome.wustl.edu	37	chr1	3407118	3407118	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctggtccaccgctccGggatgtgggtctgctggagg	16	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:3407118G>T	ENST00000356575.4	-	37	4826	c.4600C>A	c.(4600-4602)Cgg>Agg	p.R1534R	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Silent_p.R1222R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1534						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCACCGCTCCGGGATGTGGGT	0.657																																					Ovarian(73;978 3658)												0								ENSG00000162591						33	41	38					1																	3407118		1964	4143	6107	MEGF6	SO:0001819	synonymous_variant	0			-	HGNC	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4600C>A	1.37:g.3407118G>T		Somatic	0	60	0		0.52429534266604	154	27.57	59	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	72	18.18	Q4AC86|Q5VV39	Silent	SNP							pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R1534	ENST00000356575.4	37	c.4600	CCDS41237.1	1																																																																																			-	NULL		0.657	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	protein_coding	OTTHUMT00000354866.1	G	NM_001409	-		3407118	-1	no_errors	ENST00000356575	ensembl	human	known	74_37	silent	SNP	0.000	T	T	3407118	G	T	3407118	2	4	196	1	0	0	0	0	0	0	0	1	9464	1115	39	3		3	MEGF6	1	3407118	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	17386	3407118	245843503	6	13278											
TP73	7161	genome.wustl.edu	37	chr1	3598953	3598953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagtccaccgccacctcCcctgatgggggcaccacgtt	10	19	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:3598953C>T	ENST00000378295.4	+	2	179	c.24C>T	c.(22-24)tcC>tcT	p.S8S	TP73_ENST00000604479.1_Silent_p.S8S|TP73_ENST00000357733.3_Silent_p.S8S|TP73_ENST00000603362.1_Silent_p.S8S|TP73_ENST00000604074.1_Silent_p.S8S|TP73_ENST00000354437.4_Silent_p.S8S|TP73_ENST00000346387.4_Silent_p.S8S	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	8	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				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)			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)		CCGCCACCTCCCCTGATGGGG	0.672																																																	0								ENSG00000078900						27	25	26					1																	3598953		2177	4282	6459	TP73	SO:0001819	synonymous_variant	0			-	HGNC	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.24C>T	1.37:g.3598953C>T		Somatic	0	113	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	85	23.21	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.S8	ENST00000378295.4	37	c.24	CCDS49.1	1																																																																																			-	NULL		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	protein_coding	OTTHUMT00000001468.4	C	NM_005427	-		3598953	1	no_errors	ENST00000378295	ensembl	human	known	74_37	silent	SNP	0.073	T	T	3598953	C	T	3598953	2	4	196	1	0	0	0	0	0	0	0	1	16400	610	22	2		2	TP73	1	3598953	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	191835	3598953	245651668	7	13279											
NOL9	79707	genome.wustl.edu	37	chr1	6586798	6586798	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaatggcaatagctccaacGagcagacaattcacggtcct	10	11	1	1	rs140463809	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:6586798G>T	ENST00000377705.5	-	11	1949	c.1917C>A	c.(1915-1917)ctC>ctA	p.L639L		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	639					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TAGCTCCAACGAGCAGACAAT	0.562																																																	0								ENSG00000162408						137	121	126					1																	6586798		2203	4300	6503	NOL9	SO:0001819	synonymous_variant	0			-	HGNC	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1917C>A	1.37:g.6586798G>T		Somatic	0	40	0		0.52429534266604	6	76.92	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP							pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.L639	ENST00000377705.5	37	c.1917	CCDS80.1	1																																																																																			-	pfam_Pre-mRNA_cleavage_cplxII_Clp1		0.562	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	protein_coding	OTTHUMT00000002625.1	G	NM_024654	-		6586798	-1	no_errors	ENST00000377705	ensembl	human	known	74_37	silent	SNP	0.005	T	T	6586798	G	T	6586798	2	4	196	1	0	0	0	0	0	0	0	1	10530	1045	37	3		3	NOL9	1	6586798	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2987845	6586798	242663823	8	13280											
PHF13	148479	genome.wustl.edu	37	chr1	6680241	6680241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgctcgggctgggactccGatactccctcgagtggatct	12	14	1	0	rs149667501		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:6680241G>A	ENST00000377648.4	+	3	902	c.520G>A	c.(520-522)Gat>Aat	p.D174N	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	174					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGGACTCCGATACTCCCTC	0.587																																																	0								ENSG00000116273	G	ASN/ASP	0,4406		0,0,2203	34	38	37		520	5.8	1	1	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHF13	NM_153812.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	174/301	6680241	1,13005	2203	4300	6503	PHF13	SO:0001583	missense	0			-	HGNC	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.520G>A	1.37:g.6680241G>A	ENSP00000366876:p.Asp174Asn	Somatic	0	59	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	43	42.67	B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.D174N	ENST00000377648.4	37	c.520	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119714	0.56613	0.0	1.16E-4	ENSG00000116273	ENST00000377648	T	0.44881	0.91	5.77	5.77	0.91146	.	0.157834	0.56097	D	0.000027	T	0.35364	0.0929	L	0.41236	1.265	0.50313	D	0.999861	D	0.59357	0.985	B	0.43331	0.416	T	0.05194	-1.0900	10	0.27785	T	0.31	-12.8059	12.3116	0.54931	0.0764:0.0:0.9236:0.0	.	174	Q86YI8	PHF13_HUMAN	N	174	ENSP00000366876:D174N	ENSP00000366876:D174N	D	+	1	0	PHF13	6602828	1.000000	0.71417	0.961000	0.40146	0.499000	0.33736	4.919000	0.63383	2.724000	0.93272	0.561000	0.74099	GAT	-	NULL		0.587	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	protein_coding	OTTHUMT00000004201.1	G	NM_153812	rs149667501		6680241	1	no_errors	ENST00000377648	ensembl	human	known	74_37	missense	SNP	0.998	A	A	6680241	G	A	6680241	3	1	196	1	0	0	0	0	1	0	0	0	11826	1058	37	1	530	1	PHF13	1	6680241	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	93443	6680241	242570380	9	13281											
DNAJC11	55735	genome.wustl.edu	37	chr1	6699997	6699997	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaggtatggtttgatgatCagacggtgcatggcaaagta	14	5	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:6699997C>T	ENST00000377577.5	-	11	1341	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Silent_p.L368L|DNAJC11_ENST00000377573.5_Silent_p.L316L|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	406						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGATGATCAGACGGTGCA	0.522																																																	0								ENSG00000007923						97	88	91					1																	6699997		2203	4300	6503	DNAJC11	SO:0001819	synonymous_variant	0			-	HGNC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1218G>A	1.37:g.6699997C>T		Somatic	0	47	0		0.52429534266604	32	39.62	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP							pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L406	ENST00000377577.5	37	c.1218	CCDS87.1	1																																																																																			-	NULL		0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	protein_coding	OTTHUMT00000004216.3	C	NM_018198	-		6699997	-1	no_errors	ENST00000377577	ensembl	human	known	74_37	silent	SNP	0.028	T	T	6699997	C	T	6699997	2	4	196	1	0	0	0	0	0	0	0	1	4632	813	29	2		2	DNAJC11	1	6699997	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	19756	6699997	242550624	10	13282											
CAMTA1	23261	genome.wustl.edu	37	chr1	7798376	7798376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtacaggtgactggaaatcCgaaggggaccagtgtaggaa	15	6	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:7798376C>A	ENST00000303635.7	+	16	4223	c.4016C>A	c.(4015-4017)cCg>cAg	p.P1339Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P1339Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		ACTGGAAATCCGAAGGGGACC	0.498			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								ENSG00000171735						73	72	72					1																	7798376		2203	4300	6503	CAMTA1	SO:0001583	missense	0			-	HGNC	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.4016C>A	1.37:g.7798376C>A	ENSP00000306522:p.Pro1339Gln	Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP							pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.P1339Q	ENST00000303635.7	37	c.4016	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773066	0.16051	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.19105	2.18;2.17	4.92	3.87	0.44632	.	0.345747	0.32736	N	0.005702	T	0.10294	0.0252	N	0.10809	0.05	0.27403	N	0.954786	B;B;B;B	0.18968	0.032;0.019;0.011;0.019	B;B;B;B	0.15052	0.012;0.006;0.006;0.006	T	0.14364	-1.0475	10	0.28530	T	0.3	-19.811	9.2075	0.37298	0.2219:0.66:0.1181:0.0	.	1339;426;295;1339	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	Q	1339;1339;426;295	ENSP00000306522:P1339Q;ENSP00000402561:P1339Q	ENSP00000306522:P1339Q	P	+	2	0	CAMTA1	7720963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.790000	0.26900	2.424000	0.82194	0.655000	0.94253	CCG	-	NULL		0.498	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	C	NM_015215	-		7798376	1	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7798376	C	A	7798376	3	1	196	1	0	0	0	0	1	0	0	0	2615	652	23	3	4078	3	CAMTA1	1	7798376	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1098379	7798376	241452245	11	13283											
PER3	8863	genome.wustl.edu	37	chr1	7889942	7889942	+	Missense_Mutation	SNP	G	G	A													agagcagtcctgctactaccGgtgcactgtccacggggtca					rs371021649		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:7889942G>A	ENST00000361923.2	+	18	3083	c.2908G>A	c.(2908-2910)Ggt>Agt	p.G970S	PER3_ENST00000377532.3_Missense_Mutation_p.G979S|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	970	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTACTACCGGTGCACTGTC	0.507																																																	0								ENSG00000049246	G	SER/GLY	0,4406		0,0,2203	136	122	127		2908	-4.6	0	1		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PER3	NM_016831.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	970/1202	7889942	1,13005	2203	4300	6503	PER3	SO:0001583	missense	0			-	HGNC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2908G>A	1.37:g.7889942G>A	ENSP00000355031:p.Gly970Ser	Somatic	0	81	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	51	39.29	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.G970S	ENST00000361923.2	37	c.2908	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	2.494	-0.316742	0.05386	0.0	1.16E-4	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10477	2.91;2.87	2.31	-4.61	0.03380	.	613.810000	0.01140	N	0.006182	T	0.06872	0.0175	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.15141	0.007;0.007;0.012;0.007	B;B;B;B	0.12156	0.006;0.003;0.007;0.006	T	0.33979	-0.9847	10	0.07175	T	0.84	.	5.989	0.19450	0.2458:0.1867:0.5675:0.0	.	970;979;979;970	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	979;970;181	ENSP00000366755:G979S;ENSP00000355031:G970S	ENSP00000355031:G970S	G	+	1	0	PER3	7812529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.911000	0.01583	-1.285000	0.02387	-1.363000	0.01210	GGT	-	NULL		0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	protein_coding	OTTHUMT00000003607.1	G	NM_016831	-		7889942	1	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7889942	G	A	7889942	3	1	196	1	0	0	0	0	1	0	0	0	11733	1116	39	1	2978	1	PER3	1	7889942	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	91566	7889942	241360679	12	13284	197	2									
PER3	8863	genome.wustl.edu	37	chr1	7889943	7889943	+	Missense_Mutation	SNP	G	G	A													gagcagtcctgctactaccgGtgcactgtccacggggtcac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:7889943G>A	ENST00000361923.2	+	18	3084	c.2909G>A	c.(2908-2910)gGt>gAt	p.G970D	PER3_ENST00000377532.3_Missense_Mutation_p.G979D|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	970	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACTACCGGTGCACTGTCC	0.507																																																	0								ENSG00000049246						137	123	128					1																	7889943		2203	4300	6503	PER3	SO:0001583	missense	0			-	HGNC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2909G>A	1.37:g.7889943G>A	ENSP00000355031:p.Gly970Asp	Somatic	0	82	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	50	40.48	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.G970D	ENST00000361923.2	37	c.2909	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	5.178	0.218313	0.09810	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10960	2.88;2.82	2.31	0.369	0.16151	.	613.810000	0.01140	U	0.006182	T	0.11495	0.0280	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.30281	0.18;0.18;0.275;0.18	B;B;B;B	0.36289	0.11;0.11;0.221;0.11	T	0.28073	-1.0055	10	0.12430	T	0.62	.	3.6039	0.08035	0.1589:0.2627:0.5784:0.0	.	970;979;979;970	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	D	979;970;181	ENSP00000366755:G979D;ENSP00000355031:G970D	ENSP00000355031:G970D	G	+	2	0	PER3	7812530	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.419000	0.21247	0.103000	0.17682	-0.463000	0.05309	GGT	-	NULL		0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	protein_coding	OTTHUMT00000003607.1	G	NM_016831	-		7889943	1	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	SNP	0.000	A	A	7889943	G	A	7889943	3	1	196	1	0	0	0	0	1	0	0	0	11733	1261	44	2	2979	2	PER3	1	7889943	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	7889943	241360678	13	13285	197	2									
RERE	473	genome.wustl.edu	37	chr1	8601374	8601374	+	Silent	SNP	C	C	T													aaatgggagatgttacacttCcctctgggaaaaagagaaaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:8601374C>T	ENST00000337907.3	-	8	1363	c.729G>A	c.(727-729)ggG>ggA	p.G243G	RERE_ENST00000400908.2_Silent_p.G243G|RERE_ENST00000400907.2_Silent_p.G243G	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	243	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)		TGTTACACTTCCCTCTGGGAA	0.398																																																	0								ENSG00000142599						65	74	71					1																	8601374		2203	4299	6502	RERE	SO:0001819	synonymous_variant	0			-	HGNC	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.729G>A	1.37:g.8601374C>T		Somatic	0	44	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP							pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.G243	ENST00000337907.3	37	c.729	CCDS95.1	1																																																																																			-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.398	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	protein_coding	OTTHUMT00000004916.1	C		-		8601374	-1	no_errors	ENST00000337907	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8601374	C	T	8601374	2	4	196	1	0	0	0	0	0	0	0	1	13239	842	30	2		2	RERE	1	8601374	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	711431	8601374	240649247	14	13286	198	2									
RERE	473	genome.wustl.edu	37	chr1	8601375	8601375	+	Missense_Mutation	SNP	C	C	T													aatgggagatgttacacttcCctctgggaaaaagagaaaaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:8601375C>T	ENST00000337907.3	-	8	1362	c.728G>A	c.(727-729)gGg>gAg	p.G243E	RERE_ENST00000400908.2_Missense_Mutation_p.G243E|RERE_ENST00000400907.2_Missense_Mutation_p.G243E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	243	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)		GTTACACTTCCCTCTGGGAAA	0.398																																																	0								ENSG00000142599						63	73	69					1																	8601375		2202	4299	6501	RERE	SO:0001583	missense	0			-	HGNC	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.728G>A	1.37:g.8601375C>T	ENSP00000338629:p.Gly243Glu	Somatic	0	42	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP							pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.G243E	ENST00000337907.3	37	c.728	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512509	0.85389	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	D;D;D	0.88509	-2.39;-2.39;-2.39	5.78	5.78	0.91487	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.94434	0.8209	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94531	0.7736	9	0.87932	D	0	-18.7931	18.5762	0.91155	0.0:1.0:0.0:0.0	.	243	Q9P2R6	RERE_HUMAN	E	243	ENSP00000338629:G243E;ENSP00000383699:G243E;ENSP00000383700:G243E	ENSP00000338629:G243E	G	-	2	0	RERE	8523962	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.629000	0.83207	2.749000	0.94314	0.655000	0.94253	GGG	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.398	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	protein_coding	OTTHUMT00000004916.1	C		-		8601375	-1	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8601375	C	T	8601375	3	4	196	1	0	0	0	0	1	0	0	0	13239	623	22	2	4040	2	RERE	1	8601375	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	8601375	240649246	15	13287	198	2									
CLSTN1	22883	genome.wustl.edu	37	chr1	9795078	9795078	+	Missense_Mutation	SNP	G	G	A													gctgatgatgcgaagctcagGgaaaaggaacaccccttctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:9795078G>A	ENST00000377298.4	-	14	2830	c.2038C>T	c.(2038-2040)Cct>Tct	p.P680S	CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P670S|CLSTN1_ENST00000377288.3_Missense_Mutation_p.P661S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	680					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGAAGCTCAGGGAAAAGGAAC	0.582																																																	0								ENSG00000171603						105	111	109					1																	9795078		2203	4300	6503	CLSTN1	SO:0001583	missense	0			-	HGNC	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2038C>T	1.37:g.9795078G>A	ENSP00000366513:p.Pro680Ser	Somatic	0	47	0		0.52429534266604	59	33.71	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	44	33.33	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP							pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P680S	ENST00000377298.4	37	c.2038	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330230	0.60743	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.62210	-0.6902	10	0.52906	T	0.07	-20.3772	14.419	0.67171	0.0706:0.0:0.9294:0.0	.	661;670;680	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	680;670;481;661;661	ENSP00000366513:P680S;ENSP00000354997:P670S;ENSP00000401934:P481S;ENSP00000366502:P661S	ENSP00000354997:P670S	P	-	1	0	CLSTN1	9717665	1.000000	0.71417	0.082000	0.20525	0.141000	0.21300	6.772000	0.75001	1.390000	0.46547	0.655000	0.94253	CCT	-	NULL		0.582	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	protein_coding	OTTHUMT00000004239.1	G		-		9795078	-1	no_errors	ENST00000377298	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9795078	G	A	9795078	3	1	196	1	0	0	0	0	1	0	0	0	3563	1232	43	2	931	2	CLSTN1	1	9795078	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1193703	9795078	239455543	16	13288	199	2									
CLSTN1	22883	genome.wustl.edu	37	chr1	9795085	9795085	+	Silent	SNP	G	G	A													atgcgaagctcagggaaaagGaacaccccttctgagctttc					rs144945908		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:9795085G>A	ENST00000377298.4	-	14	2823	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Silent_p.F667F|CLSTN1_ENST00000377288.3_Silent_p.F658F	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	677					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGAAAAGGAACACCCCTT	0.567																																																	0								ENSG00000171603						110	117	115					1																	9795085		2203	4300	6503	CLSTN1	SO:0001819	synonymous_variant	0			-	HGNC	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2031C>T	1.37:g.9795085G>A		Somatic	0	48	0		0.52429534266604	39	51.85	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	46	33.33	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP							pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F677	ENST00000377298.4	37	c.2031	CCDS30580.1	1																																																																																			-	NULL		0.567	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	protein_coding	OTTHUMT00000004239.1	G		-		9795085	-1	no_errors	ENST00000377298	ensembl	human	known	74_37	silent	SNP	1.000	A	A	9795085	G	A	9795085	2	1	196	1	0	0	0	0	0	0	0	1	3563	1165	41	2		2	CLSTN1	1	9795085	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7	9795085	239455536	17	13289	199	2									
CASZ1	54897	genome.wustl.edu	37	chr1	10719870	10719870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctctggccctggcccgGgggcgctgggggcactgggc	21	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:10719870G>A	ENST00000377022.3	-	6	1546	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.P410L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	410	Pro-rich.				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)		CCCTGGCCCGGGGGCGCTGGG	0.692																																																	0								ENSG00000130940						37	40	39					1																	10719870		2203	4300	6503	CASZ1	SO:0001583	missense	0			-	HGNC	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.1229C>T	1.37:g.10719870G>A	ENSP00000366221:p.Pro410Leu	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P410L	ENST00000377022.3	37	c.1229	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	g	14.13	2.444588	0.43429	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.63	4.63	0.57726	.	0.054459	0.85682	D	0.000000	T	0.59865	0.2225	N	0.08118	0	0.43457	D	0.995657	D;D;D;B	0.89917	1.0;1.0;1.0;0.01	D;D;D;B	0.91635	0.999;0.999;0.999;0.006	T	0.71119	-0.4685	9	0.87932	D	0	-7.2313	17.8779	0.88830	0.0:0.0:1.0:0.0	.	434;410;410;410	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	L	410	.	ENSP00000339445:P410L	P	-	2	0	CASZ1	10642457	1.000000	0.71417	0.505000	0.27651	0.059000	0.15707	5.986000	0.70563	2.310000	0.77875	0.486000	0.48141	CCC	-	NULL		0.692	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	G	NM_017766	-		10719870	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	SNP	0.796	A	A	10719870	G	A	10719870	3	1	196	1	0	0	0	0	1	0	0	0	2687	1232	43	2	4118	2	CASZ1	1	10719870	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	924785	10719870	238530751	18	13290											
UBIAD1	29914	genome.wustl.edu	37	chr1	11345888	11345888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccagggacatggagtcCgaccgggaggctggtatcgt	15	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:11345888C>T	ENST00000376810.5	+	2	1043	c.717C>T	c.(715-717)tcC>tcT	p.S239S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	239					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACATGGAGTCCGACCGGGAGG	0.597																																																	0								ENSG00000120942						171	122	138					1																	11345888		2203	4300	6503	UBIAD1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.717C>T	1.37:g.11345888C>T		Somatic	0	27	0		0.52429534266604	40	33.33	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76	B3KQG3|Q53GX3|Q5THD4	Silent	SNP							pfam_UbiA_prenyltransferase	p.S239	ENST00000376810.5	37	c.717	CCDS129.1	1																																																																																			-	pfam_UbiA_prenyltransferase		0.597	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	protein_coding	OTTHUMT00000005773.1	C	NM_013319	-		11345888	1	no_errors	ENST00000376810	ensembl	human	known	74_37	silent	SNP	0.013	T	T	11345888	C	T	11345888	2	4	196	1	0	0	0	0	0	0	0	1	16892	639	23	1		1	UBIAD1	1	11345888	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	626018	11345888	237904733	19	13291											
CLCN6	1185	genome.wustl.edu	37	chr1	11879575	11879575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggacttttttgtgcgaCtcttcacccaactcaagttc	7	11	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:11879575C>A	ENST00000346436.6	+	5	362	c.310C>A	c.(310-312)Ctc>Atc	p.L104I	CLCN6_ENST00000376496.3_Missense_Mutation_p.L104I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376497.3_Missense_Mutation_p.L104I|CLCN6_ENST00000312413.6_Missense_Mutation_p.L104I|CLCN6_ENST00000376487.3_Missense_Mutation_p.L82I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	104					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)			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)		TTTTGTGCGACTCTTCACCCA	0.453																																																	0								ENSG00000011021						295	248	264					1																	11879575		2203	4300	6503	CLCN6	SO:0001583	missense	0			-	HGNC	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.310C>A	1.37:g.11879575C>A	ENSP00000234488:p.Leu104Ile	Somatic	0	66	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	77	28.04	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.L104I	ENST00000346436.6	37	c.310	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131030	0.77549	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	5.34	5.34	0.76211	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	L	0.56769	1.78	0.80722	D	1	P;P;P;P;P	0.49253	0.822;0.617;0.921;0.921;0.728	B;B;P;P;B	0.49140	0.359;0.242;0.547;0.601;0.196	D	0.91546	0.5253	10	0.22706	T	0.39	-26.3432	18.3846	0.90463	0.0:1.0:0.0:0.0	.	82;104;104;104;104	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	104;104;104;82;104;104;104;104	ENSP00000308367:L104I;ENSP00000234488:L104I;ENSP00000365680:L104I;ENSP00000365670:L82I;ENSP00000365679:L104I	ENSP00000308367:L104I	L	+	1	0	CLCN6	11802162	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.315000	0.78998	2.651000	0.90000	0.655000	0.94253	CTC	-	superfamily_Cl-channel_core,prints_Cl_channel-6		0.453	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	protein_coding	OTTHUMT00000006639.2	C	NM_001286	-		11879575	1	no_errors	ENST00000346436	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11879575	C	A	11879575	3	1	196	1	0	0	0	0	1	0	0	0	3469	565	20	3	328	3	CLCN6	1	11879575	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	533687	11879575	237371046	20	13292											
TNFRSF8	943	genome.wustl.edu	37	chr1	12186066	12186066	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtcggctccagcgccttCctcctgtgccaccggagggc	14	16	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12186066C>T	ENST00000263932.2	+	11	1434	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	TNFRSF8_ENST00000417814.2_Silent_p.F293F|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	404					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCAGCGCCTTCCTCCTGTGCC	0.622																																																	0								ENSG00000120949						179	157	164					1																	12186066		2203	4300	6503	TNFRSF8	SO:0001819	synonymous_variant	0			-	HGNC	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1212C>T	1.37:g.12186066C>T		Somatic	0	20	0		0.52429534266604	11	50	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.F404	ENST00000263932.2	37	c.1212	CCDS144.1	1																																																																																			-	NULL		0.622	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	protein_coding	OTTHUMT00000005130.1	C		-		12186066	1	no_errors	ENST00000263932	ensembl	human	known	74_37	silent	SNP	0.762	T	T	12186066	C	T	12186066	2	4	196	1	0	0	0	0	0	0	0	1	16306	854	30	2		2	TNFRSF8	1	12186066	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	306491	12186066	237064555	21	13293											
AADACL4	343066	genome.wustl.edu	37	chr1	12726407	12726407	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacatccccaagaaatttaaGaacagaggctaccaaccctg	6	12	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12726407G>A	ENST00000376221.1	+	4	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	295						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AGAAATTTAAGAACAGAGGCT	0.512																																																	0								ENSG00000204518						84	91	89					1																	12726407		2203	4300	6503	AADACL4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.885G>A	1.37:g.12726407G>A		Somatic	0	14	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03		Silent	SNP							pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.K295	ENST00000376221.1	37	c.885	CCDS30590.1	1																																																																																			-	pirsf_Arylacetamide_deacetylase		0.512	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	protein_coding	OTTHUMT00000005328.1	G	NM_001013630	-		12726407	1	no_errors	ENST00000376221	ensembl	human	known	74_37	silent	SNP	0.235	A	A	12726407	G	A	12726407	2	1	196	1	0	0	0	0	0	0	0	1	13	933	33	2		2	AADACL4	1	12726407	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	540341	12726407	236524214	22	13294											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12919636	12919636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggccctgtcctgcttcCcagaggccatgagtaagagg	13	13	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12919636C>T	ENST00000240189.2	+	3	463	c.376C>T	c.(376-378)Cca>Tca	p.P126S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	126					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)		GTCCTGCTTCCCAGAGGCCAT	0.542																																																	0								ENSG00000120952						162	183	176					1																	12919636		2202	4297	6499	PRAMEF2	SO:0001583	missense	0			-	HGNC		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.376C>T	1.37:g.12919636C>T	ENSP00000240189:p.Pro126Ser	Somatic	0	251	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	105	205	33.87		Missense_Mutation	SNP							NULL	p.P126S	ENST00000240189.2	37	c.376	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	3.081	-0.188995	0.06299	.	.	ENSG00000120952	ENST00000240189	T	0.03386	3.95	0.842	-1.68	0.08212	.	3.689560	0.00802	N	0.001430	T	0.03220	0.0094	L	0.33293	1	0.09310	N	1	B	0.18863	0.031	B	0.21708	0.036	T	0.40905	-0.9538	10	0.13470	T	0.59	.	2.3567	0.04297	0.0:0.3345:0.3556:0.31	.	126	O60811	PRAM2_HUMAN	S	126	ENSP00000240189:P126S	ENSP00000240189:P126S	P	+	1	0	PRAMEF2	12842223	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.297000	0.08276	-0.789000	0.04498	0.194000	0.17425	CCA	-	NULL		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	C	NM_023014	-		12919636	1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	SNP	0.000	T	T	12919636	C	T	12919636	3	4	196	1	0	0	0	0	1	0	0	0	12440	623	22	2	382	2	PRAMEF2	1	12919636	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	193229	12919636	236330985	23	13295											
PRAMEF10	343071	genome.wustl.edu	37	chr1	12954572	12954572	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcataaccgaaggctaaaaaGagttcacgaagattgctcat	8	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12954572G>A	ENST00000235347.4	-	3	790	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	237					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(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	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)		AGGCTAAAAAGAGTTCACGAA	0.498																																																	0								ENSG00000187545						87	65	72					1																	12954572		1877	4036	5913	PRAMEF10	SO:0001819	synonymous_variant	0			-	HGNC	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.711C>T	1.37:g.12954572G>A		Somatic	0	194	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	202	16.46	Q2M1V2	Silent	SNP							NULL	p.L237	ENST00000235347.4	37	c.711	CCDS41255.1	1																																																																																			-	NULL		0.498	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	protein_coding	OTTHUMT00000005512.2	G	XM_496342	-		12954572	-1	no_errors	ENST00000235347	ensembl	human	known	74_37	silent	SNP	0.001	A	A	12954572	G	A	12954572	2	1	196	1	0	0	0	0	0	0	0	1	12431	929	33	2		2	PRAMEF10	1	12954572	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	34936	12954572	236296049	24	13296											
PRDM2	7799	genome.wustl.edu	37	chr1	14108398	14108398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacacgcctaagaaaaacCcagtaccattaaaacaaact	5	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:14108398C>T	ENST00000235372.7	+	8	4964	c.4108C>T	c.(4108-4110)Cca>Tca	p.P1370S	PRDM2_ENST00000413440.1_Missense_Mutation_p.P1169S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P1169S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1370S|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1370	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAAGAAAAACCCAGTACCATT	0.453																																																	0								ENSG00000116731						85	85	85					1																	14108398		2203	4300	6503	PRDM2	SO:0001583	missense	0			-	HGNC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4108C>T	1.37:g.14108398C>T	ENSP00000235372:p.Pro1370Ser	Somatic	0	74	0		0.52429534266604	8	50	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	54	44.33	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP							pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.P1370S	ENST00000235372.7	37	c.4108	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216628	0.39201	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.20069	2.18;2.1;2.11;2.11	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.03043	-1.1079	10	0.59425	D	0.04	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	1228;1370;1370	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	S	1370;1370;1370;1169;1169	ENSP00000235372:P1370S;ENSP00000312352:P1370S;ENSP00000411103:P1169S;ENSP00000341621:P1169S	ENSP00000235372:P1370S	P	+	1	0	PRDM2	13980985	1.000000	0.71417	0.631000	0.29282	0.078000	0.17371	6.044000	0.71012	2.941000	0.99782	0.655000	0.94253	CCA	-	pirsf_RIZ_retinblastoma-bd_prot		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	protein_coding	OTTHUMT00000021792.2	C	NM_012231	-		14108398	1	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14108398	C	T	14108398	3	4	196	1	0	0	0	0	1	0	0	0	12463	623	22	2	4134	2	PRDM2	1	14108398	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1153826	14108398	235142223	25	13297											
CELA2B	51032	genome.wustl.edu	37	chr1	15812515	15812515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatatgatctgtgctgggGgtgatggcgtgatatgcacc	15	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:15812515G>A	ENST00000375910.3	+	6	638	c.613G>A	c.(613-615)Ggt>Agt	p.G205S		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGTGCTGGGGGTGATGGCGT	0.562																																																	0								ENSG00000215704						180	178	179					1																	15812515		2203	4300	6503	CELA2B	SO:0001583	missense	0			-	HGNC		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.613G>A	1.37:g.15812515G>A	ENSP00000365075:p.Gly205Ser	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	79	35.25	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G205S	ENST00000375910.3	37	c.613	CCDS30605.1	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392854	0.62066	.	.	ENSG00000215704	ENST00000375910	D	0.88896	-2.44	3.82	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	U	0.000024	D	0.90998	0.7169	L	0.37466	1.105	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.92066	0.5660	10	0.87932	D	0	.	14.0332	0.64629	0.0:0.0:1.0:0.0	.	205	P08218	CEL2B_HUMAN	S	205	ENSP00000365075:G205S	ENSP00000365075:G205S	G	+	1	0	CELA2B	15685102	1.000000	0.71417	0.664000	0.29753	0.053000	0.15095	8.963000	0.93385	2.053000	0.61076	0.505000	0.49811	GGT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	protein_coding	OTTHUMT00000006448.1	G	NM_015849	-		15812515	1	no_errors	ENST00000375910	ensembl	human	known	74_37	missense	SNP	0.997	A	A	15812515	G	A	15812515	3	1	196	1	0	0	0	0	1	0	0	0	3214	1232	43	2	635	2	CELA2B	1	15812515	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1704117	15812515	233438106	26	13298											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16057088	16057088	+	Missense_Mutation	SNP	C	C	T													ggaggaccccacagacgagtCcctgggccccacgccctgcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16057088C>T	ENST00000375799.3	+	15	2497	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S737F	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	757					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACAGACGAGTCCCTGGGCCCC	0.652																																																	0								ENSG00000116786						39	48	45					1																	16057088		2110	4212	6322	PLEKHM2	SO:0001583	missense	0			-	HGNC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2270C>T	1.37:g.16057088C>T	ENSP00000364956:p.Ser757Phe	Somatic	0	32	0		0.52429534266604	191	14.73	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP							pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.S757F	ENST00000375799.3	37	c.2270	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230457	0.22542	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.45668	0.89;0.89	5.27	0.855	0.19013	.	0.441350	0.25247	N	0.032047	T	0.22475	0.0542	N	0.14661	0.345	0.27319	N	0.957099	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.21014	T	0.42	-5.6781	10.846	0.46743	0.0:0.5652:0.3668:0.068	.	757	Q8IWE5	PKHM2_HUMAN	F	757;737	ENSP00000364956:S757F;ENSP00000364950:S737F	ENSP00000364950:S737F	S	+	2	0	PLEKHM2	15929675	0.019000	0.18553	0.998000	0.56505	0.615000	0.37417	1.707000	0.37888	0.180000	0.19960	0.655000	0.94253	TCC	-	NULL		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	protein_coding	OTTHUMT00000008463.1	C	NM_015164	-		16057088	1	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	SNP	0.986	T	T	16057088	C	T	16057088	3	4	196	1	0	0	0	0	1	0	0	0	12083	855	30	2	2328	2	PLEKHM2	1	16057088	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	244573	16057088	233193533	27	13299	200	2									
PLEKHM2	23207	genome.wustl.edu	37	chr1	16057089	16057089	+	Silent	SNP	C	C	T													gaggaccccacagacgagtcCctgggccccacgccctgcca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16057089C>T	ENST00000375799.3	+	15	2498	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.S737S	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	757					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGACGAGTCCCTGGGCCCCA	0.652																																																	0								ENSG00000116786						39	47	44					1																	16057089		2112	4211	6323	PLEKHM2	SO:0001819	synonymous_variant	0			-	HGNC	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2271C>T	1.37:g.16057089C>T		Somatic	0	31	0		0.52429534266604	193	14.98	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP							pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.S757	ENST00000375799.3	37	c.2271	CCDS44063.1	1																																																																																			-	NULL		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	protein_coding	OTTHUMT00000008463.1	C	NM_015164	-		16057089	1	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	SNP	0.971	T	T	16057089	C	T	16057089	2	4	196	1	0	0	0	0	0	0	0	1	12083	610	22	2		2	PLEKHM2	1	16057089	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	16057089	233193532	28	13300	200	2									
SPEN	23013	genome.wustl.edu	37	chr1	16199525	16199525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atacagtttccatagcatctCgtagtagagaggtttctggg	11	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16199525C>T	ENST00000375759.3	+	2	502	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	100					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)		CATAGCATCTCGTAGTAGAGA	0.527																																																	0								ENSG00000065526						119	108	112					1																	16199525		2203	4300	6503	SPEN	SO:0001583	missense	0			-	HGNC		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.298C>T	1.37:g.16199525C>T	ENSP00000364912:p.Arg100Cys	Somatic	0	53	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.88	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP							pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R100C	ENST00000375759.3	37	c.298	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962836	0.34659	.	.	ENSG00000065526	ENST00000375759	T	0.10477	2.87	5.57	5.57	0.84162	.	.	.	.	.	T	0.20618	0.0496	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01172	-1.1429	9	0.54805	T	0.06	0.022	14.7284	0.69362	0.0:0.9287:0.0:0.0713	.	100	Q96T58	MINT_HUMAN	C	100	ENSP00000364912:R100C	ENSP00000364912:R100C	R	+	1	0	SPEN	16072112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.186000	0.42593	2.635000	0.89317	0.555000	0.69702	CGT	-	NULL		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	C	NM_015001	-		16199525	1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16199525	C	T	16199525	3	4	196	1	0	0	0	0	1	0	0	0	15045	884	31	1	304	1	SPEN	1	16199525	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	142436	16199525	233051096	29	13301											
SPEN	23013	genome.wustl.edu	37	chr1	16261246	16261246	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgccaagatcagccagatCcccccggccagtgcaatgga	11	15	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16261246C>T	ENST00000375759.3	+	11	8715	c.8511C>T	c.(8509-8511)atC>atT	p.I2837I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2837	Interaction with RBPSUH. {ECO:0000250}.				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)		TCAGCCAGATCCCCCCGGCCA	0.572																																																	0								ENSG00000065526						81	74	77					1																	16261246		2203	4300	6503	SPEN	SO:0001819	synonymous_variant	0			-	HGNC		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.8511C>T	1.37:g.16261246C>T		Somatic	0	17	0		0.52429534266604	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	42.86	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP							pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.I2837	ENST00000375759.3	37	c.8511	CCDS164.1	1																																																																																			-	NULL		0.572	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	C	NM_015001	-		16261246	1	no_errors	ENST00000375759	ensembl	human	known	74_37	silent	SNP	0.996	T	T	16261246	C	T	16261246	2	4	196	1	0	0	0	0	0	0	0	1	15045	845	30	2		2	SPEN	1	16261246	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	61721	16261246	232989375	30	13302											
FBXO42	54455	genome.wustl.edu	37	chr1	16578032	16578032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgtctcctctggctggGgaaaggctcccttcccggga	14	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16578032G>A	ENST00000375592.3	-	10	1503	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	429										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCTGGCTGGGGAAAGGCTCC	0.582																																																	0								ENSG00000037637						33	34	34					1																	16578032		2203	4300	6503	FBXO42	SO:0001819	synonymous_variant	0			-	HGNC	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1287C>T	1.37:g.16578032G>A		Somatic	0	32	0		0.52429534266604	32	29.79	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP							pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.S429	ENST00000375592.3	37	c.1287	CCDS30613.1	1																																																																																			-	NULL		0.582	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	protein_coding	OTTHUMT00000006285.1	G		-		16578032	-1	no_errors	ENST00000375592	ensembl	human	known	74_37	silent	SNP	1.000	A	A	16578032	G	A	16578032	2	1	196	1	0	0	0	0	0	0	0	1	5753	1219	43	2		2	FBXO42	1	16578032	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	316786	16578032	232672589	31	13303											
FBXO42	54455	genome.wustl.edu	37	chr1	16580201	16580201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacgcccactgctcaaGgtcaaggacccagacatcat	9	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16580201G>A	ENST00000375592.3	-	7	1009	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	265										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CACTGCTCAAGGTCAAGGACC	0.517																																																	0								ENSG00000037637						66	58	61					1																	16580201		2203	4300	6503	FBXO42	SO:0001583	missense	0			-	HGNC	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.793C>T	1.37:g.16580201G>A	ENSP00000364742:p.Leu265Phe	Somatic	0	39	0		0.52429534266604	23	32.35	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	52	31.17	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L265F	ENST00000375592.3	37	c.793	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893818	0.91889	.	.	ENSG00000037637	ENST00000375592	T	0.69306	-0.39	5.96	5.96	0.96718	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	L	0.52206	1.635	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	T	0.77723	-0.2481	10	0.59425	D	0.04	-15.2888	19.4101	0.94667	0.0:0.0:1.0:0.0	.	265	Q6P3S6	FBX42_HUMAN	F	265	ENSP00000364742:L265F	ENSP00000364742:L265F	L	-	1	0	FBXO42	16452788	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.266000	0.58871	2.832000	0.97577	0.655000	0.94253	CTT	-	pfam_Kelch_2,pfam_Kelch_1		0.517	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	protein_coding	OTTHUMT00000006285.1	G		-		16580201	-1	no_errors	ENST00000375592	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16580201	G	A	16580201	3	1	196	1	0	0	0	0	1	0	0	0	5753	1000	35	2	1376	2	FBXO42	1	16580201	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2169	16580201	232670420	32	13304											
NBPF1	55672	genome.wustl.edu	37	chr1	16918513	16918513	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaagggccagctgataccaCcatgctgacgtttgtggcag	12	12	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16918513C>G	ENST00000430580.2	-	7	891	c.4G>C	c.(4-6)Gtg>Ctg	p.V2L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	2						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCTGATACCACCATGCTGACG	0.478																																																	0								ENSG00000219481						260	262	261					1																	16918513		2198	4299	6497	NBPF1	SO:0001583	missense	0			-	HGNC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.4G>C	1.37:g.16918513C>G	ENSP00000474456:p.Val2Leu	Somatic	0	471	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	533	9.48	Q8N4E8|Q9C0H0	Missense_Mutation	SNP							NULL	p.V2L	ENST00000430580.2	37	c.4		1																																																																																			-	NULL		0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	protein_coding	OTTHUMT00000106436.3	C	NM_017940	-		16918513	-1	no_errors	ENST00000392963	ensembl	human	known	74_37	missense	SNP	0.030	G	G	16918513	C	G	16918513	3	3	196	1	0	0	0	0	1	0	0	0	10194	507	18	4	3512	4	NBPF1	1	16918513	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	338312	16918513	232332108	33	13305											
PADI1	29943	genome.wustl.edu	37	chr1	17563878	17563878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggtgcaggcacccgtGgagctctactcggactggct	14	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:17563878G>A	ENST00000375471.4	+	12	1475	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	PADI1_ENST00000536552.1_Intron|PADI1_ENST00000413717.2_Silent_p.V18V|PADI1_ENST00000537499.1_Silent_p.V18V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	461					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGCACCCGTGGAGCTCTACT	0.642											OREG0013147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(80;414 1257 4580 27746 50832)												0								ENSG00000142623						171	138	149					1																	17563878		2203	4300	6503	PADI1	SO:0001819	synonymous_variant	0			-	HGNC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1383G>A	1.37:g.17563878G>A		Somatic	0	55	0	89	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	40.00	A1L4K6|Q70SX6	Silent	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V461	ENST00000375471.4	37	c.1383	CCDS178.1	1																																																																																			-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.642	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	protein_coding	OTTHUMT00000006621.1	G	NM_013358	-		17563878	1	no_errors	ENST00000375471	ensembl	human	known	74_37	silent	SNP	1.000	A	A	17563878	G	A	17563878	2	1	196	1	0	0	0	0	0	0	0	1	11379	1335	47	2		2	PADI1	1	17563878	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	645365	17563878	231686743	34	13306											
ARHGEF10L	55160	genome.wustl.edu	37	chr1	18023601	18023601	+	Missense_Mutation	SNP	C	C	T													cctcccgggcccgctgctctCcatgcgggagccggcgcctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:18023601C>T	ENST00000361221.3	+	29	3725	c.3566C>T	c.(3565-3567)tCc>tTc	p.S1189F	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S892F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S962F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1150F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1150F	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1189						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)		CCGCTGCTCTCCATGCGGGAG	0.677																																																	0								ENSG00000074964						13	14	14					1																	18023601		2187	4280	6467	ARHGEF10L	SO:0001583	missense	0			-	HGNC	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.3566C>T	1.37:g.18023601C>T	ENSP00000355060:p.Ser1189Phe	Somatic	0	14	0		0.52429534266604	32	17.95	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.S1189F	ENST00000361221.3	37	c.3566	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805399	0.70682	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.63913	0.19;0.22;0.22;-0.07;2.2	4.74	4.74	0.60224	.	0.080279	0.52532	D	0.000072	T	0.74913	0.3779	L	0.60455	1.87	0.49582	D	0.999802	D;D;D;D;P;D;D	0.76494	0.999;0.999;0.999;0.999;0.48;0.999;0.999	D;D;D;D;B;D;D	0.74023	0.949;0.961;0.982;0.926;0.316;0.982;0.959	T	0.78018	-0.2368	10	0.87932	D	0	-21.8078	14.4327	0.67261	0.0:1.0:0.0:0.0	.	962;962;892;950;1145;1150;1189	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	F	1189;1150;1150;962;962;892	ENSP00000355060:S1189F;ENSP00000399401:S1150F;ENSP00000364564:S1150F;ENSP00000364557:S962F;ENSP00000167825:S892F	ENSP00000167825:S892F	S	+	2	0	ARHGEF10L	17896188	1.000000	0.71417	0.977000	0.42913	0.629000	0.37895	7.156000	0.77453	2.163000	0.67991	0.655000	0.94253	TCC	-	NULL		0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	protein_coding	OTTHUMT00000007147.1	C	NM_018125	-		18023601	1	no_errors	ENST00000361221	ensembl	human	known	74_37	missense	SNP	0.994	T	T	18023601	C	T	18023601	3	4	196	1	0	0	0	0	1	0	0	0	895	855	30	2	3676	2	ARHGEF10L	1	18023601	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	459723	18023601	231227020	35	13307	201	2									
ARHGEF10L	55160	genome.wustl.edu	37	chr1	18023602	18023602	+	Silent	SNP	C	C	T													ctcccgggcccgctgctctcCatgcgggagccggcgcctgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:18023602C>T	ENST00000361221.3	+	29	3726	c.3567C>T	c.(3565-3567)tcC>tcT	p.S1189S	ARHGEF10L_ENST00000167825.4_Silent_p.S892S|ARHGEF10L_ENST00000375408.3_Silent_p.S962S|ARHGEF10L_ENST00000375415.1_Silent_p.S1150S|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.S1150S	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1189						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)		CGCTGCTCTCCATGCGGGAGC	0.677																																																	0								ENSG00000074964						13	14	14					1																	18023602		2188	4282	6470	ARHGEF10L	SO:0001819	synonymous_variant	0			-	HGNC	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.3567C>T	1.37:g.18023602C>T		Somatic	0	14	0		0.52429534266604	33	17.5	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.S1189	ENST00000361221.3	37	c.3567	CCDS182.1	1																																																																																			-	NULL		0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	protein_coding	OTTHUMT00000007147.1	C	NM_018125	-		18023602	1	no_errors	ENST00000361221	ensembl	human	known	74_37	silent	SNP	0.945	T	T	18023602	C	T	18023602	2	4	196	1	0	0	0	0	0	0	0	1	895	581	21	2		2	ARHGEF10L	1	18023602	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	18023602	231227019	36	13308	201	2									
ALDH4A1	8659	genome.wustl.edu	37	chr1	19200961	19200961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggacccactcaccagaGgctcgggcccccccaaaggg	14	16	1	1	rs200337577		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:19200961G>A	ENST00000375341.3	-	14	1832	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	ALDH4A1_ENST00000538839.1_Silent_p.A474A|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.A465A|ALDH4A1_ENST00000290597.5_Silent_p.A525A	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	525				RAS -> GSA (in Ref. 10; AA sequence). {ECO:0000305}.	4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCACCAGAGGCTCGGGCCC	0.592													G|||	1	0.000199681	0	0	5008	,	,		16529	0.001		0	False		,,,				2504	0																0								ENSG00000159423						66	69	68					1																	19200961		2203	4300	6503	ALDH4A1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1575C>T	1.37:g.19200961G>A		Somatic	0	129	0		0.52429534266604	15	50	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	102	36.65	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.A525	ENST00000375341.3	37	c.1575	CCDS188.1	1																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.592	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	protein_coding	OTTHUMT00000006954.1	G		rs200337577		19200961	-1	no_errors	ENST00000290597	ensembl	human	known	74_37	silent	SNP	0.982	A	A	19200961	G	A	19200961	2	1	196	1	0	0	0	0	0	0	0	1	501	987	35	2		2	ALDH4A1	1	19200961	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1177359	19200961	230049660	37	13309											
USP48	84196	genome.wustl.edu	37	chr1	22074761	22074761	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgtctccttctaatttttCttcctgatcaagaataagac	4	9	4	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:22074761C>T	ENST00000308271.9	-	7	1426	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	USP48_ENST00000421625.2_Missense_Mutation_p.E260K|USP48_ENST00000400301.1_Missense_Mutation_p.E260K|USP48_ENST00000529637.1_Missense_Mutation_p.E260K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	260	USP.				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)		TCTAATTTTTCTTCCTGATCA	0.313																																																	0								ENSG00000090686						90	81	84					1																	22074761		2203	4300	6503	USP48	SO:0001583	missense	0			-	HGNC	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.778G>A	1.37:g.22074761C>T	ENSP00000309262:p.Glu260Lys	Somatic	0	48	0		0.52429534266604	14	26.32	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.E260K	ENST00000308271.9	37	c.778	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.316923	0.95682	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;0.999;0.997;0.998;1.0	T	0.54323	-0.8311	10	0.87932	D	0	.	18.6387	0.91387	0.0:1.0:0.0:0.0	.	260;260;260;260;260;260	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	K	260	ENSP00000383157:E260K;ENSP00000309262:E260K;ENSP00000431949:E260K;ENSP00000406256:E260K	ENSP00000309262:E260K	E	-	1	0	USP48	21947348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.746000	0.85057	2.635000	0.89317	0.563000	0.77884	GAA	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.313	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	protein_coding	OTTHUMT00000021372.1	C	NM_032236	-		22074761	-1	no_errors	ENST00000308271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22074761	C	T	22074761	3	4	196	1	0	0	0	0	1	0	0	0	17086	922	32	2	2421	2	USP48	1	22074761	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2873800	22074761	227175860	38	13310											
HSPG2	3339	genome.wustl.edu	37	chr1	22176547	22176547	+	Missense_Mutation	SNP	G	G	A													ctcctacctggtgccgggccGggaggctgcccccgcgcttg					rs377464593		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:22176547G>A	ENST00000374695.3	-	57	7512	c.7433C>T	c.(7432-7434)cCg>cTg	p.P2478L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2478	Ig-like C2-type 10.				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)	GTGCCGGGCCGGGAGGCTGCC	0.662																																																	0								ENSG00000142798	G	LEU/PRO	2,4404	2.1+/-5.4	0,2,2201	94	109	104		7433	5.2	0.8	1		104	0,8600		0,0,4300	no	missense	HSPG2	NM_005529.5	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2478/4392	22176547	2,13004	2203	4300	6503	HSPG2	SO:0001583	missense	0			-	HGNC	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.7433C>T	1.37:g.22176547G>A	ENSP00000363827:p.Pro2478Leu	Somatic	0	32	0		0.52429534266604	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.P2478L	ENST00000374695.3	37	c.7433	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368336	0.61513	4.54E-4	0.0	ENSG00000142798	ENST00000374695	T	0.66815	-0.23	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37053	N	0.002276	D	0.82490	0.5048	M	0.86953	2.85	0.45962	D	0.998782	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84843	0.0809	10	0.66056	D	0.02	.	11.3479	0.49571	0.0:0.0:0.8187:0.1813	.	418;2478	Q59EG0;P98160	.;PGBM_HUMAN	L	2478	ENSP00000363827:P2478L	ENSP00000363827:P2478L	P	-	2	0	HSPG2	22049134	1.000000	0.71417	0.796000	0.32109	0.620000	0.37586	4.693000	0.61753	2.421000	0.82119	0.561000	0.74099	CCG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22176547	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	SNP	0.891	A	A	22176547	G	A	22176547	3	1	196	1	0	0	0	0	1	0	0	0	7432	1116	39	1	5906	1	HSPG2	1	22176547	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	101786	22176547	227074074	39	13311	202	2									
HSPG2	3339	genome.wustl.edu	37	chr1	22176548	22176548	+	Missense_Mutation	SNP	G	G	A													tcctacctggtgccgggccgGgaggctgcccccgcgcttgt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:22176548G>A	ENST00000374695.3	-	57	7511	c.7432C>T	c.(7432-7434)Ccg>Tcg	p.P2478S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2478	Ig-like C2-type 10.				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)	TGCCGGGCCGGGAGGCTGCCC	0.667																																																	0								ENSG00000142798						94	109	104					1																	22176548		2203	4300	6503	HSPG2	SO:0001583	missense	0			-	HGNC	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.7432C>T	1.37:g.22176548G>A	ENSP00000363827:p.Pro2478Ser	Somatic	0	32	0		0.52429534266604	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.P2478S	ENST00000374695.3	37	c.7432	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334600	0.60853	.	.	ENSG00000142798	ENST00000374695	T	0.64991	-0.13	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37053	N	0.002276	T	0.71576	0.3356	L	0.52364	1.645	0.33844	D	0.631812	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	T	0.78932	-0.2009	10	0.56958	D	0.05	.	9.7894	0.40697	0.0935:0.0:0.9065:0.0	.	418;2478	Q59EG0;P98160	.;PGBM_HUMAN	S	2478	ENSP00000363827:P2478S	ENSP00000363827:P2478S	P	-	1	0	HSPG2	22049135	1.000000	0.71417	0.814000	0.32528	0.655000	0.38815	6.342000	0.72982	2.421000	0.82119	0.561000	0.74099	CCG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	G	NM_005529	-		22176548	-1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	SNP	0.935	A	A	22176548	G	A	22176548	3	1	196	1	0	0	0	0	1	0	0	0	7432	1232	43	2	5907	2	HSPG2	1	22176548	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	22176548	227074073	40	13312	202	2									
HTR1D	3352	genome.wustl.edu	37	chr1	23519970	23519970	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagagcgaggacccggcaGagcctgtgatgaggtgggcc	18	10	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:23519970G>A	ENST00000374619.1	-	1	1252	c.743C>T	c.(742-744)tCt>tTt	p.S248F	HTR1D_ENST00000314113.3_Missense_Mutation_p.S248F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	248					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGACCCGGCAGAGCCTGTGAT	0.597																																																	0								ENSG00000179546						44	49	47					1																	23519970		2203	4300	6503	HTR1D	SO:0001583	missense	0			-	HGNC	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.743C>T	1.37:g.23519970G>A	ENSP00000363748:p.Ser248Phe	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.S248F	ENST00000374619.1	37	c.743	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865364	0.51588	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.70869	-0.52;-0.52	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.80616	2.505	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.87250	0.2272	10	0.87932	D	0	.	17.7723	0.88496	0.0:0.0:1.0:0.0	.	248	P28221	5HT1D_HUMAN	F	248	ENSP00000313661:S248F;ENSP00000363748:S248F	ENSP00000313661:S248F	S	-	2	0	HTR1D	23392557	1.000000	0.71417	0.935000	0.37517	0.382000	0.30200	7.876000	0.87215	2.453000	0.82957	0.563000	0.77884	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt		0.597	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	protein_coding	OTTHUMT00000008924.1	G	NM_000864	-		23519970	-1	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	SNP	0.998	A	A	23519970	G	A	23519970	3	1	196	1	0	0	0	0	1	0	0	0	7440	942	33	2	394	2	HTR1D	1	23519970	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1343422	23519970	225730651	41	13313											
FUCA1	2517	genome.wustl.edu	37	chr1	24191983	24191983	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatccctggacactcacctCttccggagagctgttcccaa	7	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24191983C>T	ENST00000374479.3	-	2	529	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	174					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		ACACTCACCTCTTCCGGAGAG	0.498																																																	0								ENSG00000179163						129	116	120					1																	24191983		2203	4300	6503	FUCA1	SO:0001819	synonymous_variant	0			-	HGNC	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.522G>A	1.37:g.24191983C>T		Somatic	0	41	0		0.52429534266604	23	17.86	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Silent	SNP							pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.K174	ENST00000374479.3	37	c.522	CCDS244.2	1																																																																																			-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub		0.498	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	protein_coding	OTTHUMT00000008259.2	C	NM_000147	-		24191983	-1	no_errors	ENST00000374479	ensembl	human	known	74_37	silent	SNP	0.999	T	T	24191983	C	T	24191983	2	4	196	1	0	0	0	0	0	0	0	1	6096	912	32	2		2	FUCA1	1	24191983	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	672013	24191983	225058638	42	13314											
MYOM3	127294	genome.wustl.edu	37	chr1	24432456	24432456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagtgcaggtcagcaGgaccgtggtgtgctcccaga	15	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24432456G>A	ENST00000374434.3	-	5	676	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	MYOM3_ENST00000330966.7_Silent_p.L173L|MYOM3_ENST00000329601.7_Silent_p.L172L|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	172	Ig-like C2-type 1.					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)		CAGGTCAGCAGGACCGTGGTG	0.667																																																	0								ENSG00000142661						52	63	60					1																	24432456		2074	4201	6275	MYOM3	SO:0001819	synonymous_variant	0			-	HGNC	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.514C>T	1.37:g.24432456G>A		Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L173	ENST00000374434.3	37	c.517	CCDS41281.1	1																																																																																			-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.667	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	protein_coding	OTTHUMT00000008272.2	G	NM_152372	-		24432456	-1	no_errors	ENST00000330966	ensembl	human	known	74_37	silent	SNP	1.000	A	A	24432456	G	A	24432456	2	1	196	1	0	0	0	0	0	0	0	1	10095	991	35	2		2	MYOM3	1	24432456	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	240473	24432456	224818165	43	13315											
SRRM1	10250	genome.wustl.edu	37	chr1	24996032	24996032	+	Missense_Mutation	SNP	C	C	T													ccccgtctccaagtactaggCccattaggagagtctccagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24996032C>T	ENST00000323848.9	+	14	2473	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	SRRM1_ENST00000374389.4_Missense_Mutation_p.P729S|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P732S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	720	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)			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)		AAGTACTAGGCCCATTAGGAG	0.458																																					Ovarian(68;897 1494 3282 17478)												0								ENSG00000133226						33	32	33					1																	24996032		2203	4297	6500	SRRM1	SO:0001583	missense	0			-	HGNC	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.2158C>T	1.37:g.24996032C>T	ENSP00000326261:p.Pro720Ser	Somatic	0	21	0		0.52429534266604	28	39.13	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O60585|Q5VVN4	Missense_Mutation	SNP							pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P732S	ENST00000323848.9	37	c.2194	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658284	0.67586	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.36340	1.26;1.26;1.26	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000010	T	0.54303	0.1850	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.63703	0.917;0.829	T	0.53056	-0.8492	10	0.66056	D	0.02	-1.8987	19.8414	0.96690	0.0:1.0:0.0:0.0	.	732;720	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	S	720;732;729	ENSP00000326261:P720S;ENSP00000391430:P732S;ENSP00000363510:P729S	ENSP00000326261:P720S	P	+	1	0	SRRM1	24868619	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.223000	0.65283	2.680000	0.91292	0.563000	0.77884	CCC	-	NULL		0.458	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	protein_coding	OTTHUMT00000009292.2	C	NM_005839	-		24996032	1	no_errors	ENST00000447431	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24996032	C	T	24996032	3	4	196	1	0	0	0	0	1	0	0	0	15175	739	26	2	2212	2	SRRM1	1	24996032	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	563576	24996032	224254589	44	13316	203	2									
SRRM1	10250	genome.wustl.edu	37	chr1	24996033	24996033	+	Missense_Mutation	SNP	C	C	T													cccgtctccaagtactaggcCcattaggagagtctccagga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24996033C>T	ENST00000323848.9	+	14	2474	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	SRRM1_ENST00000374389.4_Missense_Mutation_p.P729L|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P732L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	720	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)			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)		AGTACTAGGCCCATTAGGAGA	0.463																																					Ovarian(68;897 1494 3282 17478)												0								ENSG00000133226						32	32	32					1																	24996033		2203	4298	6501	SRRM1	SO:0001583	missense	0			-	HGNC	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.2159C>T	1.37:g.24996033C>T	ENSP00000326261:p.Pro720Leu	Somatic	0	20	0		0.52429534266604	27	39.13	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O60585|Q5VVN4	Missense_Mutation	SNP							pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P732L	ENST00000323848.9	37	c.2195	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327144	0.60743	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.29917	1.55;1.55;1.55	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000010	T	0.32255	0.0823	L	0.46157	1.445	0.80722	D	1	B;B	0.30146	0.27;0.176	B;B	0.25291	0.059;0.026	T	0.09952	-1.0651	10	0.87932	D	0	-1.8987	19.8414	0.96690	0.0:1.0:0.0:0.0	.	732;720	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	720;732;729	ENSP00000326261:P720L;ENSP00000391430:P732L;ENSP00000363510:P729L	ENSP00000326261:P720L	P	+	2	0	SRRM1	24868620	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.890000	0.56220	2.680000	0.91292	0.563000	0.77884	CCC	-	NULL		0.463	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	protein_coding	OTTHUMT00000009292.2	C	NM_005839	-		24996033	1	no_errors	ENST00000447431	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24996033	C	T	24996033	3	4	196	1	0	0	0	0	1	0	0	0	15175	623	22	2	2213	2	SRRM1	1	24996033	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	24996033	224254588	45	13317	203	2									
DHDDS	79947	genome.wustl.edu	37	chr1	26769229	26769229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccctctcagactctgcGgtggtgtttgaacctgggca	11	13	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:26769229G>A	ENST00000236342.7	+	4	281	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Missense_Mutation_p.R63Q|DHDDS_ENST00000360009.2_Missense_Mutation_p.R63Q|DHDDS_ENST00000525682.2_Missense_Mutation_p.R63Q|DHDDS_ENST00000374185.3_Missense_Mutation_p.R63Q|DHDDS_ENST00000427245.2_Missense_Mutation_p.R63Q			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	63					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CAGACTCTGCGGTGGTGTTTG	0.493																																																	0								ENSG00000117682						152	145	148					1																	26769229		2203	4300	6503	DHDDS	SO:0001583	missense	0			-	HGNC	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.188G>A	1.37:g.26769229G>A	ENSP00000236342:p.Arg63Gln	Somatic	0	66	0		0.52429534266604	34	20.93	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	60	37.50	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP							pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.R63Q	ENST00000236342.7	37	c.188	CCDS282.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751080	0.49257	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525326;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.92	4.96	0.65561	.	0.133906	0.64402	D	0.000001	T	0.40570	0.1122	L	0.33668	1.02	0.80722	D	1	B;B;B;B	0.12630	0.003;0.006;0.001;0.001	B;B;B;B	0.09377	0.004;0.004;0.003;0.001	T	0.18777	-1.0326	10	0.20519	T	0.43	-20.2169	12.9934	0.58634	0.0835:0.0:0.9165:0.0	.	63;63;63;63	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	Q	31;63;63;63;63;63;63;63;63;63;63;63;63;63	ENSP00000399177:R63Q;ENSP00000434984:R63Q;ENSP00000236342:R63Q;ENSP00000434219:R63Q;ENSP00000363300:R63Q;ENSP00000353104:R63Q;ENSP00000436119:R63Q;ENSP00000436764:R63Q;ENSP00000434185:R63Q;ENSP00000431407:R63Q;ENSP00000433976:R63Q;ENSP00000397584:R63Q	ENSP00000236342:R63Q	R	+	2	0	DHDDS	26641816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.621000	0.74228	1.378000	0.46305	0.655000	0.94253	CGG	-	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like		0.493	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	protein_coding	OTTHUMT00000392504.1	G	NM_024887	-		26769229	1	no_errors	ENST00000360009	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26769229	G	A	26769229	3	1	196	1	0	0	0	0	1	0	0	0	4480	1116	39	1	198	1	DHDDS	1	26769229	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1773196	26769229	222481392	46	13318											
RPS6KA1	6195	genome.wustl.edu	37	chr1	26878196	26878196	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcgtggtggggacctcttCacccggctctcaaaagaggt	13	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:26878196C>T	ENST00000374168.2	+	6	604	c.450C>T	c.(448-450)ttC>ttT	p.F150F	RPS6KA1_ENST00000526792.1_Silent_p.F58F|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000531382.1_Silent_p.F159F|RPS6KA1_ENST00000374162.2_Silent_p.F58F|RPS6KA1_ENST00000374166.4_Silent_p.F150F|RPS6KA1_ENST00000530003.1_Silent_p.F134F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	150	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGGACCTCTTCACCCGGCTCT	0.602																																																	0								ENSG00000117676						107	94	98					1																	26878196		2203	4300	6503	RPS6KA1	SO:0001819	synonymous_variant	0			-	HGNC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.450C>T	1.37:g.26878196C>T		Somatic	0	44	0		0.52429534266604	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.00	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F159	ENST00000374168.2	37	c.477	CCDS284.1	1																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom		0.602	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	protein_coding	OTTHUMT00000011431.1	C	NM_002953	-		26878196	1	no_errors	ENST00000531382	ensembl	human	known	74_37	silent	SNP	1.000	T	T	26878196	C	T	26878196	2	4	196	1	0	0	0	0	0	0	0	1	13658	825	29	2		2	RPS6KA1	1	26878196	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	108967	26878196	222372425	47	13319											
AHDC1	27245	genome.wustl.edu	37	chr1	27873850	27873850	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgaatgtgtcctcggggtGaggttccgccatgggcccca	16	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:27873850G>A	ENST00000247087.5	-	5	5373	c.4777C>T	c.(4777-4779)Cac>Tac	p.H1593Y	AHDC1_ENST00000374011.2_Missense_Mutation_p.H1593Y			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1593							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCCTCGGGGTGAGGTTCCGCC	0.647																																																	0								ENSG00000126705						75	92	86					1																	27873850		2203	4300	6503	AHDC1	SO:0001583	missense	0			-	HGNC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4777C>T	1.37:g.27873850G>A	ENSP00000247087:p.His1593Tyr	Somatic	0	59	0		0.52429534266604	71	43.65	55	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	85	28.57	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP							NULL	p.H1593Y	ENST00000247087.5	37	c.4777	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778178	0.31502	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50277	0.75;0.75	5.48	5.48	0.80851	.	0.500084	0.18524	N	0.138675	T	0.43545	0.1252	N	0.19112	0.55	0.30195	N	0.79912	D	0.56968	0.978	P	0.50754	0.649	T	0.46911	-0.9157	10	0.62326	D	0.03	-4.9431	13.1237	0.59342	0.0:0.0:0.8396:0.1604	.	1593	Q5TGY3	AHDC1_HUMAN	Y	1593	ENSP00000247087:H1593Y;ENSP00000363123:H1593Y	ENSP00000247087:H1593Y	H	-	1	0	AHDC1	27746437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.829000	0.62737	2.581000	0.87130	0.563000	0.77884	CAC	-	NULL		0.647	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	protein_coding	OTTHUMT00000009523.3	G		-		27873850	-1	no_errors	ENST00000247087	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27873850	G	A	27873850	3	1	196	1	0	0	0	0	1	0	0	0	412	1290	45	2	38	2	AHDC1	1	27873850	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	995654	27873850	221376771	48	13320											
C1orf38	9473	genome.wustl.edu	37	chr1	28208830	28208830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcggccaagggagttccCcacggcctatgacctcctag	13	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:28208830C>T	ENST00000373921.3	+	4	999	c.995C>T	c.(994-996)cCc>cTc	p.P332L	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	332	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGGAGTTCCCCACGGCCTAT	0.667																																																	0								ENSG00000130775						16	20	19					1																	28208830		1966	4159	6125	THEMIS2	SO:0001583	missense	0			-	HGNC	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.995C>T	1.37:g.28208830C>T	ENSP00000363031:p.Pro332Leu	Somatic	0	94	0		0.52429534266604	22	8.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	100	38.04	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP							NULL	p.P332L	ENST00000373921.3	37	c.995	CCDS41290.1	1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323228	0.41096	.	.	ENSG00000130775	ENST00000442118;ENST00000373921	T;T	0.13901	2.55;2.55	5.23	4.27	0.50696	.	0.569455	0.21042	N	0.081149	T	0.20210	0.0486	L	0.53780	1.695	0.80722	D	1	P	0.38677	0.642	B	0.43225	0.412	T	0.01697	-1.1293	10	0.54805	T	0.06	-8.6836	15.4678	0.75416	0.1387:0.8613:0.0:0.0	.	332	Q5TEJ8	THMS2_HUMAN	L	195;332	ENSP00000413725:P195L;ENSP00000363031:P332L	ENSP00000363031:P332L	P	+	2	0	C1orf38	28081417	0.000000	0.05858	1.000000	0.80357	0.778000	0.44026	0.935000	0.28924	2.610000	0.88304	0.491000	0.48974	CCC	-	NULL		0.667	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	protein_coding	OTTHUMT00000011148.1	C	NM_004848	-		28208830	1	no_errors	ENST00000373921	ensembl	human	known	74_37	missense	SNP	0.966	T	T	28208830	C	T	28208830	3	4	196	1	0	0	0	0	1	0	0	0	2041	623	22	2	1009	2	C1orf38	1	28208830	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	334980	28208830	221041791	49	13321											
TRNAU1AP	54952	genome.wustl.edu	37	chr1	28904058	28904058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaacaaggagttcatGgaacagagtgaggagctgta	15	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:28904058G>T	ENST00000373830.3	+	9	800	c.774G>T	c.(772-774)atG>atT	p.M258I	SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	258					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AGGAGTTCATGGAACAGAGTG	0.557																																																	0								ENSG00000180098						193	182	186					1																	28904058		2203	4300	6503	TRNAU1AP	SO:0001583	missense	0			-	HGNC		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.774G>T	1.37:g.28904058G>T	ENSP00000362936:p.Met258Ile	Somatic	0	37	0		0.52429534266604	126	40.28	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	45	34.78	Q86SU7	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M258I	ENST00000373830.3	37	c.774	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378117	0.61735	.	.	ENSG00000180098	ENST00000373830	T	0.64803	-0.12	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.52573	1.65	0.80722	D	1	P	0.47034	0.889	B	0.44224	0.444	T	0.55412	-0.8145	10	0.15066	T	0.55	.	18.6987	0.91613	0.0:0.0:1.0:0.0	.	258	Q9NX07	TSAP1_HUMAN	I	258	ENSP00000362936:M258I	ENSP00000362936:M258I	M	+	3	0	TRNAU1AP	28776645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.034000	0.76511	2.763000	0.94921	0.591000	0.81541	ATG	-	NULL		0.557	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	protein_coding	OTTHUMT00000010346.1	G	NM_017846	-		28904058	1	no_errors	ENST00000373830	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28904058	G	T	28904058	3	4	196	1	0	0	0	0	1	0	0	0	16579	1348	47	3	808	3	TRNAU1AP	1	28904058	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	695228	28904058	220346563	50	13322											
SPOCD1	90853	genome.wustl.edu	37	chr1	32280233	32280233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagacaggaggttgtcCccacgagggctctgatcaag	12	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32280233C>T	ENST00000360482.2	-	2	831	c.702G>A	c.(700-702)ggG>ggA	p.G234G	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Silent_p.G234G|SPOCD1_ENST00000533231.1_Silent_p.G234G	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	234					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGAGGTTGTCCCCACGAGGGC	0.587																																																	0								ENSG00000134668						102	100	101					1																	32280233		2203	4300	6503	SPOCD1	SO:0001819	synonymous_variant	0			-	HGNC	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.702G>A	1.37:g.32280233C>T		Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	80	18.37	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP							pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.G234	ENST00000360482.2	37	c.702	CCDS347.1	1																																																																																			-	NULL		0.587	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	protein_coding	OTTHUMT00000381912.1	C	NM_144569	-		32280233	-1	no_errors	ENST00000360482	ensembl	human	known	74_37	silent	SNP	0.770	T	T	32280233	C	T	32280233	2	4	196	1	0	0	0	0	0	0	0	1	15085	610	22	2		2	SPOCD1	1	32280233	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3376175	32280233	216970388	51	13323											
LCK	3932	genome.wustl.edu	37	chr1	32742050	32742050	+	Silent	SNP	G	G	A													agggagacgctgaagctggtGgagcggctgggggctggaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32742050G>A	ENST00000336890.5	+	8	882	c.744G>A	c.(742-744)gtG>gtA	p.V248V	LCK_ENST00000373564.3_Intron|LCK_ENST00000333070.4_Silent_p.V248V	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TGAAGCTGGTGGAGCGGCTGG	0.677			T	TRB@	T-ALL																																			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0								ENSG00000182866						52	64	60					1																	32742050		2203	4300	6503	LCK	SO:0001819	synonymous_variant	0			-	HGNC	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.744G>A	1.37:g.32742050G>A		Somatic	0	109	0		0.52429534266604	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	145	15.12	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.V248	ENST00000336890.5	37	c.744	CCDS359.1	1																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	protein_coding	OTTHUMT00000019616.4	G	NM_005356	-		32742050	1	no_errors	ENST00000333070	ensembl	human	known	74_37	silent	SNP	1.000	A	A	32742050	G	A	32742050	2	1	196	1	0	0	0	0	0	0	0	1	8678	1335	47	2		2	LCK	1	32742050	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	461817	32742050	216508571	52	13324	204	2									
LCK	3932	genome.wustl.edu	37	chr1	32742051	32742051	+	Missense_Mutation	SNP	G	G	A													gggagacgctgaagctggtgGagcggctgggggctggacag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32742051G>A	ENST00000336890.5	+	8	883	c.745G>A	c.(745-747)Gag>Aag	p.E249K	LCK_ENST00000373564.3_Intron|LCK_ENST00000333070.4_Missense_Mutation_p.E249K	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GAAGCTGGTGGAGCGGCTGGG	0.677			T	TRB@	T-ALL																																			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0								ENSG00000182866						52	65	61					1																	32742051		2203	4300	6503	LCK	SO:0001583	missense	0			-	HGNC	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.745G>A	1.37:g.32742051G>A	ENSP00000337825:p.Glu249Lys	Somatic	0	111	0		0.52429534266604	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	147	15.03	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E249K	ENST00000336890.5	37	c.745	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	.	9.447	1.089651	0.20390	.	.	ENSG00000182866	ENST00000336890;ENST00000333070;ENST00000436824	T;T	0.61859	2.8;0.07	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.079062	0.52532	D	0.000065	T	0.30759	0.0775	N	0.05259	-0.085	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.24476	-1.0159	10	0.02654	T	1	.	11.9081	0.52723	0.0814:0.0:0.9186:0.0	.	293;249;249	E7EN21;P06239-3;P06239	.;.;LCK_HUMAN	K	249;249;293	ENSP00000337825:E249K;ENSP00000328213:E249K	ENSP00000328213:E249K	E	+	1	0	LCK	32514638	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.097000	0.41748	2.735000	0.93741	0.555000	0.69702	GAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	protein_coding	OTTHUMT00000019616.4	G	NM_005356	-		32742051	1	no_errors	ENST00000333070	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32742051	G	A	32742051	3	1	196	1	0	0	0	0	1	0	0	0	8678	1175	41	2	771	2	LCK	1	32742051	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	32742051	216508570	53	13325	204	2									
ZBTB8A	653121	genome.wustl.edu	37	chr1	33066007	33066007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaaaaagaaattaagcCcaacattaggtagctgtaat	8	5	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:33066007C>T	ENST00000373510.4	+	5	1542	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	438					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(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAAATTAAGCCCAACATTAGG	0.403																																																	0								ENSG00000160062						79	75	77					1																	33066007		2203	4300	6503	ZBTB8A	SO:0001583	missense	0			-	HGNC	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1313C>T	1.37:g.33066007C>T	ENSP00000362609:p.Pro438Leu	Somatic	0	62	0		0.52429534266604	7	46.15	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	37	40.32	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P438L	ENST00000373510.4	37	c.1313	CCDS30664.1	1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792830	0.70452	.	.	ENSG00000160062	ENST00000373510	T	0.17213	2.29	5.5	5.5	0.81552	.	0.099316	0.41194	U	0.000936	T	0.12518	0.0304	N	0.24115	0.695	0.80722	D	1	B	0.27351	0.176	B	0.22386	0.039	T	0.04017	-1.0984	10	0.87932	D	0	-12.9036	12.1398	0.53993	0.0:0.9217:0.0:0.0783	.	438	Q96BR9	ZBT8A_HUMAN	L	438	ENSP00000362609:P438L	ENSP00000362609:P438L	P	+	2	0	ZBTB8A	32838594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.623000	0.54224	2.757000	0.94681	0.655000	0.94253	CCC	-	NULL		0.403	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	protein_coding	OTTHUMT00000021665.2	C	NM_144621	-		33066007	1	no_errors	ENST00000373510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33066007	C	T	33066007	3	4	196	1	0	0	0	0	1	0	0	0	17563	623	22	2	1323	2	ZBTB8A	1	33066007	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	323956	33066007	216184614	54	13326											
ZSCAN20	7579	genome.wustl.edu	37	chr1	33960531	33960531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtaaggacttgaattctCctggaccacacagcacaaac	7	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:33960531C>T	ENST00000361328.3	+	8	2740	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	863					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTGAATTCTCCTGGACCACA	0.438																																																	0								ENSG00000121903						159	158	158					1																	33960531		1934	4156	6090	ZSCAN20	SO:0001583	missense	0			-	HGNC	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2587C>T	1.37:g.33960531C>T	ENSP00000355053:p.Pro863Ser	Somatic	0	43	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	67	29.47	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P863S	ENST00000361328.3	37	c.2587	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	C	3.476	-0.106973	0.06924	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.49	-0.235	0.13071	.	0.384766	0.22406	N	0.060466	T	0.05456	0.0144	N	0.00742	-1.23	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.32824	-0.9892	9	0.05959	T	0.93	-2.596	1.3104	0.02097	0.1407:0.3969:0.137:0.3255	.	862;863	P17040-3;P17040	.;ZSC20_HUMAN	S	863;797;797	.	ENSP00000324450:P863S	P	+	1	0	ZSCAN20	33733118	0.000000	0.05858	0.063000	0.19743	0.930000	0.56654	-2.831000	0.00743	0.287000	0.22375	0.655000	0.94253	CCT	-	NULL		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	protein_coding	OTTHUMT00000277003.2	C	NM_145238	-		33960531	1	no_errors	ENST00000361328	ensembl	human	known	74_37	missense	SNP	0.000	T	T	33960531	C	T	33960531	3	4	196	1	0	0	0	0	1	0	0	0	18239	855	30	2	2613	2	ZSCAN20	1	33960531	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	894524	33960531	215290090	55	13327											
CSMD2	114784	genome.wustl.edu	37	chr1	34090845	34090845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcactgcgtggcgctggttCgaggaaccgctgtgggggac	18	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:34090845C>T	ENST00000373380.1	-	13	2145	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1769Q|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1729	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCTGGTTCGAGGAACCGC	0.632																																																	0								ENSG00000121904						40	33	35					1																	34090845		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1925G>A	1.37:g.34090845C>T	ENSP00000362478:p.Arg642Gln	Somatic	0	18	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R1769Q	ENST00000373380.1	37	c.5306		1	.	.	.	.	.	.	.	.	.	.	C	33	5.276622	0.95459	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.25912	1.77;2.2	6.17	6.17	0.99709	.	0.070929	0.56097	D	0.000032	T	0.33760	0.0874	L	0.39245	1.2	0.80722	D	1	B;P;P	0.49253	0.284;0.843;0.921	B;B;P	0.49853	0.064;0.185;0.624	T	0.00244	-1.1883	10	0.32370	T	0.25	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	642;1729;1769	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1769;642	ENSP00000362479:R1769Q;ENSP00000362478:R642Q	ENSP00000241312:R1729Q	R	-	2	0	CSMD2	33863432	1.000000	0.71417	0.984000	0.44739	0.723000	0.41478	5.950000	0.70265	2.941000	0.99782	0.655000	0.94253	CGA	-	NULL		0.632	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	C	NM_052896	-		34090845	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	0.994	T	T	34090845	C	T	34090845	3	4	196	1	0	0	0	0	1	0	0	0	3947	884	31	1	5421	1	CSMD2	1	34090845	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	130314	34090845	215159776	56	13328											
CSMD2	114784	genome.wustl.edu	37	chr1	34164453	34164453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccagggtcacagctgaaGgacacggagctccctgcaaa	11	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:34164453G>A	ENST00000373380.1	-	3	664	c.444C>T	c.(442-444)tcC>tcT	p.S148S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.S1275S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1235	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGCTGAAGGACACGGAGC	0.582																																																	0								ENSG00000121904						85	80	82					1																	34164453		2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.444C>T	1.37:g.34164453G>A		Somatic	0	58	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	81	14.74	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S1275	ENST00000373380.1	37	c.3825		1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.582	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	G	NM_052896	-		34164453	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	0.992	A	A	34164453	G	A	34164453	2	1	196	1	0	0	0	0	0	0	0	1	3947	987	35	2		2	CSMD2	1	34164453	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	73608	34164453	215086168	57	13329											
MAP7D1	55700	genome.wustl.edu	37	chr1	36638986	36638986	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctatgaagcagccatcCaacggtcagtgaagaagacg	12	10	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36638986C>T	ENST00000373151.2	+	5	862	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	MAP7D1_ENST00000373150.4_Nonsense_Mutation_p.Q216*|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000316156.4_Nonsense_Mutation_p.Q216*	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	216					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCAGCCATCCAACGGTCAGT	0.572																																																	0								ENSG00000116871						95	92	93					1																	36638986		2203	4300	6503	MAP7D1	SO:0001587	stop_gained	0			-	HGNC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.646C>T	1.37:g.36638986C>T	ENSP00000362244:p.Gln216*	Somatic	0	76	0		0.52429534266604	135	1.46	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	81	30.17	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Nonsense_Mutation	SNP							pfam_MAP7	p.Q216*	ENST00000373151.2	37	c.646	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.147491	0.97324	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	.	.	.	5.22	5.22	0.72569	.	0.000000	0.39759	N	0.001271	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.1781	12.7947	0.57553	0.1637:0.8363:0.0:0.0	.	.	.	.	X	177;216;216;216	.	ENSP00000320228:Q216X	Q	+	1	0	MAP7D1	36411573	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.974000	0.49272	2.620000	0.88729	0.655000	0.94253	CAA	-	NULL		0.572	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	protein_coding	OTTHUMT00000382095.1	C	NM_018067	-		36638986	1	no_errors	ENST00000373151	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	36638986	C	T	36638986	4	4	196	1	0	0	0	0	0	1	0	0	9269	595	21	2	664	2	MAP7D1	1	36638986	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2474533	36638986	212611635	58	13330											
THRAP3	9967	genome.wustl.edu	37	chr1	36752122	36752122	+	Silent	SNP	C	C	T													agaggcttttatccatggggCcaatataaccgaggaggcta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36752122C>T	ENST00000354618.5	+	4	515	c.291C>T	c.(289-291)ggC>ggT	p.G97G	THRAP3_ENST00000469141.2_Silent_p.G97G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	97	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				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)				ATCCATGGGGCCAATATAACC	0.502			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0								ENSG00000054118						96	96	96					1																	36752122		2203	4300	6503	THRAP3	SO:0001819	synonymous_variant	0			-	HGNC	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.291C>T	1.37:g.36752122C>T		Somatic	0	63	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	59	27.71	D3DPS5|Q5VTK6	Silent	SNP							NULL	p.G97	ENST00000354618.5	37	c.291	CCDS405.1	1																																																																																			-	NULL		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	protein_coding	OTTHUMT00000021688.2	C	NM_005119	-		36752122	1	no_errors	ENST00000354618	ensembl	human	known	74_37	silent	SNP	1.000	T	T	36752122	C	T	36752122	2	4	196	1	0	0	0	0	0	0	0	1	15881	726	26	2		2	THRAP3	1	36752122	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	113136	36752122	212498499	59	13331	205	2									
THRAP3	9967	genome.wustl.edu	37	chr1	36752123	36752123	+	Nonsense_Mutation	SNP	C	C	T													gaggcttttatccatggggcCaatataaccgaggaggctat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36752123C>T	ENST00000354618.5	+	4	516	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.Q98*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	98	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				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)				TCCATGGGGCCAATATAACCG	0.502			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0								ENSG00000054118						96	97	96					1																	36752123		2203	4300	6503	THRAP3	SO:0001587	stop_gained	0			-	HGNC	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.292C>T	1.37:g.36752123C>T	ENSP00000346634:p.Gln98*	Somatic	0	63	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.92	D3DPS5|Q5VTK6	Nonsense_Mutation	SNP							NULL	p.Q98*	ENST00000354618.5	37	c.292	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.536236	0.96460	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-16.514	18.7693	0.91885	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000346634:Q98X	Q	+	1	0	THRAP3	36524710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.118000	0.57884	2.746000	0.94184	0.655000	0.94253	CAA	-	NULL		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	protein_coding	OTTHUMT00000021688.2	C	NM_005119	-		36752123	1	no_errors	ENST00000354618	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	36752123	C	T	36752123	4	4	196	1	0	0	0	0	0	1	0	0	15881	595	21	2	298	2	THRAP3	1	36752123	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	36752123	212498498	60	13332	205	2									
C1orf113	79729	genome.wustl.edu	37	chr1	36784742	36784742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagaagctagcaacagcCaccactgggcccagcaaagc	10	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36784742C>T	ENST00000426732.2	+	10	777	c.492C>T	c.(490-492)gcC>gcT	p.A164A	SH3D21_ENST00000505871.1_Silent_p.A169A|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000453908.2_Silent_p.A280A			A4FU49	SH321_HUMAN	SH3 domain containing 21	164						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						TAGCAACAGCCACCACTGGGC	0.577																																																	0								ENSG00000214193						53	51	51					1																	36784742		692	1591	2283	SH3D21	SO:0001819	synonymous_variant	0			-	HGNC	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.492C>T	1.37:g.36784742C>T		Somatic	0	50	0		0.52429534266604	9	25	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.A280	ENST00000426732.2	37	c.840		1																																																																																			-	NULL		0.577	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	protein_coding		C	NM_024676	-		36784742	1	no_errors	ENST00000453908	ensembl	human	known	74_37	silent	SNP	0.001	T	T	36784742	C	T	36784742	2	4	196	1	0	0	0	0	0	0	0	1	1988	581	21	2		2	C1orf113	1	36784742	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	32619	36784742	212465879	61	13333											
STK40	83931	genome.wustl.edu	37	chr1	36824356	36824356	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accttcagctgatagaagtcAtccgtgccatctttcctcgc	7	14	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36824356A>T	ENST00000373129.3	-	4	586	c.180T>A	c.(178-180)gaT>gaA	p.D60E	STK40_ENST00000373132.3_Missense_Mutation_p.D60E|STK40_ENST00000373130.3_Missense_Mutation_p.D65E|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000359297.2_Missense_Mutation_p.D60E	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GATAGAAGTCATCCGTGCCAT	0.572																																																	0								ENSG00000196182						183	137	153					1																	36824356		2203	4300	6503	STK40	SO:0001583	missense	0			-	HGNC	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.180T>A	1.37:g.36824356A>T	ENSP00000362221:p.Asp60Glu	Somatic	0	21	0		0.52429534266604	9	52.63	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D65E	ENST00000373129.3	37	c.195	CCDS407.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481262	0.84747	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.88	2.17	0.27698	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	0.70876	0.3274	L	0.56769	1.78	0.45962	D	0.998785	D;D;D	0.71674	0.961;0.997;0.998	P;D;D	0.67725	0.593;0.921;0.953	T	0.69057	-0.5246	10	0.72032	D	0.01	-15.071	9.4754	0.38869	0.7947:0.0:0.2053:0.0	.	60;65;60	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	E	60;60;65;60	ENSP00000362221:D60E;ENSP00000352245:D60E;ENSP00000362222:D65E;ENSP00000362224:D60E	ENSP00000352245:D60E	D	-	3	2	STK40	36596943	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	3.104000	0.50306	0.112000	0.17975	0.454000	0.30748	GAT	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.572	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	protein_coding	OTTHUMT00000022592.1	A	NM_032017	-		36824356	-1	no_errors	ENST00000373130	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36824356	A	T	36824356	3	4	196	1	0	0	0	0	1	0	0	0	15314	214	8	5	1163	5	STK40	1	36824356	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	39614	36824356	212426265	62	13334											
RSPO1	284654	genome.wustl.edu	37	chr1	38082235	38082235	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcagacgcccacctggcgGatgtcgttcctctccagcag	11	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:38082235G>A	ENST00000401069.1	-	4	919	c.207C>T	c.(205-207)atC>atT	p.I69I	RSPO1_ENST00000356545.2_Silent_p.I69I|RSPO1_ENST00000401071.2_Silent_p.I69I|RSPO1_ENST00000401068.1_Silent_p.I69I|RSPO1_ENST00000401070.1_Silent_p.I69I|RSPO1_ENST00000373059.1_Silent_p.I42I	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	69					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACCTGGCGGATGTCGTTCC	0.612																																					GBM(122;680 2230 27822 42821)												0								ENSG00000169218						75	79	78					1																	38082235		2076	4208	6284	RSPO1	SO:0001819	synonymous_variant	0			-	HGNC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.207C>T	1.37:g.38082235G>A		Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP							pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.I69	ENST00000401069.1	37	c.207	CCDS41304.1	1																																																																																			-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat		0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO1	protein_coding	OTTHUMT00000012477.2	G	NM_173640	-		38082235	-1	no_errors	ENST00000356545	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38082235	G	A	38082235	2	1	196	1	0	0	0	0	0	0	0	1	13717	1164	41	2		2	RSPO1	1	38082235	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1257879	38082235	211168386	63	13335											
MACF1	23499	genome.wustl.edu	37	chr1	39800360	39800360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagatactgctactggaaaAagactgacattggcatcagc	9	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:39800360A>G	ENST00000372915.3	+	36	8202	c.8115A>G	c.(8113-8115)aaA>aaG	p.K2705K	MACF1_ENST00000564288.1_Silent_p.K2700K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.K1140K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.K2737K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2705					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTACTGGAAAAAGACTGACAT	0.413																																																	0								ENSG00000127603						48	50	49					1																	39800360		2203	4300	6503	MACF1	SO:0001819	synonymous_variant	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8115A>G	1.37:g.39800360A>G		Somatic	0	54	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K2737	ENST00000372915.3	37	c.8211		1																																																																																			-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	A	NM_033044	-		39800360	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	silent	SNP	0.992	G	G	39800360	A	G	39800360	2	3	196	1	0	0	0	0	0	0	0	1	9146	11	1	5		5	MACF1	1	39800360	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1718125	39800360	209450261	64	13336											
MACF1	23499	genome.wustl.edu	37	chr1	39801547	39801547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgagaaattgcctgtgGggcccagagtgaaccattcc	11	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:39801547G>A	ENST00000372915.3	+	36	9389	c.9302G>A	c.(9301-9303)gGg>gAg	p.G3101E	MACF1_ENST00000564288.1_Missense_Mutation_p.G3096E|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G1536E|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G3133E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3101					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTGCCTGTGGGGCCCAGAGT	0.443																																																	0								ENSG00000127603						48	55	53					1																	39801547		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9302G>A	1.37:g.39801547G>A	ENSP00000362006:p.Gly3101Glu	Somatic	0	89	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	63	36.36	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G3133E	ENST00000372915.3	37	c.9398		1	.	.	.	.	.	.	.	.	.	.	G	3.773	-0.047168	0.07407	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60920	0.15;1.24	4.93	-2.24	0.06909	.	1.624970	0.03236	N	0.179677	T	0.37705	0.1013	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.22836	-1.0205	10	0.56958	D	0.05	.	0.8699	0.01212	0.1766:0.2793:0.2595:0.2846	.	3101	Q9UPN3	MACF1_HUMAN	E	3101;1536	ENSP00000362006:G3101E;ENSP00000289893:G1536E	ENSP00000289893:G1536E	G	+	2	0	MACF1	39574134	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-0.157000	0.10085	-0.178000	0.10672	-0.253000	0.11424	GGG	-	superfamily_RNaseH-like_dom		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-		39801547	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	SNP	0.000	A	A	39801547	G	A	39801547	3	1	196	1	0	0	0	0	1	0	0	0	9146	1232	43	2	9378	2	MACF1	1	39801547	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1187	39801547	209449074	65	13337											
COL9A2	1298	genome.wustl.edu	37	chr1	40767513	40767513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcccaggcatcccgGggtgcccccgtcccacttct	13	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:40767513G>A	ENST00000372748.3	-	31	1937	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	614	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGCATCCCGGGGTGCCCCCG	0.537																																																	0								ENSG00000049089						44	45	45					1																	40767513		2203	4300	6503	COL9A2	SO:0001583	missense	0			-	HGNC	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1841C>T	1.37:g.40767513G>A	ENSP00000361834:p.Pro614Leu	Somatic	0	34	0		0.52429534266604	12	20	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78	B2RMP9	Missense_Mutation	SNP							pfam_Collagen	p.P614L	ENST00000372748.3	37	c.1841	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548617	0.65311	.	.	ENSG00000049089	ENST00000372748	D	0.93953	-3.32	5.35	5.35	0.76521	.	0.174936	0.51477	D	0.000097	D	0.96402	0.8826	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95953	0.8956	10	0.56958	D	0.05	.	11.4766	0.50302	0.0:0.0:0.821:0.179	.	614	Q14055	CO9A2_HUMAN	L	614	ENSP00000361834:P614L	ENSP00000361834:P614L	P	-	2	0	COL9A2	40540100	1.000000	0.71417	0.710000	0.30468	0.971000	0.66376	3.749000	0.55150	2.780000	0.95670	0.655000	0.94253	CCC	-	pfam_Collagen		0.537	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	protein_coding	OTTHUMT00000015764.3	G	NM_001852	-		40767513	-1	no_errors	ENST00000372748	ensembl	human	known	74_37	missense	SNP	0.963	A	A	40767513	G	A	40767513	3	1	196	1	0	0	0	0	1	0	0	0	3710	1232	43	2	236	2	COL9A2	1	40767513	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	965966	40767513	208483108	66	13338											
ZNF643	65243	genome.wustl.edu	37	chr1	40928636	40928636	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctcttattccgcatcagaGaattcatactggtgagaaac	7	9	3	2	rs137945908		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:40928636G>A	ENST00000411995.2	+	6	1355	c.980G>A	c.(979-981)aGa>aAa	p.R327K	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R225K	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	327					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)										CCGCATCAGAGAATTCATACT	0.413																																																	0								ENSG00000187801						59	62	61					1																	40928636		2203	4300	6503	ZFP69B	SO:0001583	missense	0			-	HGNC	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.980G>A	1.37:g.40928636G>A	ENSP00000399664:p.Arg327Lys	Somatic	0	41	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.41	Q5QPL4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R327K	ENST00000411995.2	37	c.980	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	16.65	3.183285	0.57800	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.02197	4.4;4.4	3.13	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	L	0.33339	1.005	0.29088	N	0.882291	D	0.67145	0.996	D	0.74023	0.982	T	0.18209	-1.0344	9	0.54805	T	0.06	.	12.4855	0.55871	0.0:0.0:1.0:0.0	.	327	Q9UJL9	ZN643_HUMAN	K	258;327;225	ENSP00000399664:R327K;ENSP00000354547:R225K	ENSP00000354547:R225K	R	+	2	0	ZNF643	40701223	0.764000	0.28473	1.000000	0.80357	0.995000	0.86356	2.199000	0.42715	2.047000	0.60756	0.585000	0.79938	AGA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	protein_coding	OTTHUMT00000019078.2	G	NM_023070	-		40928636	1	no_errors	ENST00000411995	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40928636	G	A	40928636	3	1	196	1	0	0	0	0	1	0	0	0	18066	942	33	2	998	2	ZNF643	1	40928636	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	161123	40928636	208321985	67	13339											
CTPS	1503	genome.wustl.edu	37	chr1	41475838	41475838	+	Missense_Mutation	SNP	C	C	T													atctgaattctacagggacaCctatagtgacaggagtggaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:41475838C>T	ENST00000372621.4	+	18	2205	c.1697C>T	c.(1696-1698)aCc>aTc	p.T566I	CTPS1_ENST00000372616.1_Missense_Mutation_p.T566I|CTPS1_ENST00000541520.1_Missense_Mutation_p.T335I	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TACAGGGACACCTATAGTGAC	0.453																																																	0								ENSG00000171793						122	114	117					1																	41475838		2203	4300	6503	CTPS1	SO:0001583	missense	0			-	HGNC	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1697C>T	1.37:g.41475838C>T	ENSP00000361704:p.Thr566Ile	Somatic	0	93	0		0.52429534266604	139	8.55	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	92	32.35		Missense_Mutation	SNP							pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase	p.T566I	ENST00000372621.4	37	c.1697	CCDS459.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687191	0.48097	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.42513	0.98;0.97;0.98	5.29	5.29	0.74685	.	0.047560	0.85682	D	0.000000	T	0.25269	0.0614	N	0.08118	0	0.80722	D	1	B;B	0.31680	0.335;0.19	B;B	0.30495	0.116;0.07	T	0.09885	-1.0654	10	0.25106	T	0.35	.	16.4387	0.83894	0.0:1.0:0.0:0.0	.	335;566	B4DR64;P17812	.;PYRG1_HUMAN	I	566;335;566	ENSP00000361704:T566I;ENSP00000442646:T335I;ENSP00000361699:T566I	ENSP00000361699:T566I	T	+	2	0	CTPS	41248425	1.000000	0.71417	0.986000	0.45419	0.781000	0.44180	5.508000	0.67006	2.462000	0.83206	0.655000	0.94253	ACC	-	NULL		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	protein_coding	OTTHUMT00000015629.1	C	NM_001905	-		41475838	1	no_errors	ENST00000372616	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41475838	C	T	41475838	3	4	196	1	0	0	0	0	1	0	0	0	4024	507	18	2	1763	2	CTPS	1	41475838	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	547202	41475838	207774783	68	13340	206	2									
CTPS	1503	genome.wustl.edu	37	chr1	41475839	41475839	+	Silent	SNP	C	C	T													tctgaattctacagggacacCtatagtgacaggagtggaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:41475839C>T	ENST00000372621.4	+	18	2206	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	CTPS1_ENST00000372616.1_Silent_p.T566T|CTPS1_ENST00000541520.1_Silent_p.T335T	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						ACAGGGACACCTATAGTGACA	0.453																																																	0								ENSG00000171793						123	114	117					1																	41475839		2203	4300	6503	CTPS1	SO:0001819	synonymous_variant	0			-	HGNC	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1698C>T	1.37:g.41475839C>T		Somatic	0	94	0		0.52429534266604	144	8.86	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	93	32.12		Silent	SNP							pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase	p.T566	ENST00000372621.4	37	c.1698	CCDS459.1	1																																																																																			-	NULL		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	protein_coding	OTTHUMT00000015629.1	C	NM_001905	-		41475839	1	no_errors	ENST00000372616	ensembl	human	known	74_37	silent	SNP	0.916	T	T	41475839	C	T	41475839	2	4	196	1	0	0	0	0	0	0	0	1	4024	668	24	2		2	CTPS	1	41475839	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	41475839	207774782	69	13341	206	2									
HIVEP3	59269	genome.wustl.edu	37	chr1	41979136	41979136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcaggcgctcagcttccGagaccgagctgcctcgtgta	12	14	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:41979136G>A	ENST00000372583.1	-	8	6641	c.5756C>T	c.(5755-5757)tCg>tTg	p.S1919L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1919L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1919L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1919L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1919	Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCAGCTTCCGAGACCGAGCT	0.687																																																	0								ENSG00000127124						14	17	16					1																	41979136		2188	4286	6474	HIVEP3	SO:0001583	missense	0			-	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5756C>T	1.37:g.41979136G>A	ENSP00000361664:p.Ser1919Leu	Somatic	0	12	0		0.52429534266604	9	10	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1919L	ENST00000372583.1	37	c.5756	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	5.708	0.315168	0.10789	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	4.98	0.831	0.18860	.	0.785571	0.10820	N	0.630559	T	0.04003	0.0112	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44620	-0.9316	10	0.28530	T	0.3	-0.905	10.4248	0.44371	0.3754:0.0:0.6246:0.0	.	1919;1919	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1919	ENSP00000361665:S1919L;ENSP00000361664:S1919L;ENSP00000247584:S1919L;ENSP00000410828:S1919L	ENSP00000247584:S1919L	S	-	2	0	HIVEP3	41751723	0.002000	0.14202	0.003000	0.11579	0.028000	0.11728	0.339000	0.19875	0.213000	0.20722	-0.119000	0.15052	TCG	-	NULL		0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	G	NM_024503	-		41979136	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	SNP	0.001	A	A	41979136	G	A	41979136	3	1	196	1	0	0	0	0	1	0	0	0	7190	1059	37	1	1472	1	HIVEP3	1	41979136	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	503297	41979136	207271485	70	13342											
HIVEP3	59269	genome.wustl.edu	37	chr1	42048123	42048123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttccctgattctgaaccGgaccctggcttgggagtcct	10	14	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:42048123G>A	ENST00000372583.1	-	4	3231	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Silent_p.S782S|HIVEP3_ENST00000247584.5_Silent_p.S782S|HIVEP3_ENST00000429157.2_Silent_p.S782S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	782	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATTCTGAACCGGACCCTGGCT	0.542																																																	0								ENSG00000127124						44	48	46					1																	42048123		2203	4300	6503	HIVEP3	SO:0001819	synonymous_variant	0			-	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2346C>T	1.37:g.42048123G>A		Somatic	0	41	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	68	15.00	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S782	ENST00000372583.1	37	c.2346	CCDS463.1	1																																																																																			-	NULL		0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	G	NM_024503	-		42048123	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	silent	SNP	0.000	A	A	42048123	G	A	42048123	2	1	196	1	0	0	0	0	0	0	0	1	7190	1103	39	1		1	HIVEP3	1	42048123	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	68987	42048123	207202498	71	13343											
CCDC30	728621	genome.wustl.edu	37	chr1	43011180	43011180	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagtgaaaatacctgtaaaGatcctgaatctaatgaacca	6	8	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43011180G>A	ENST00000340612.4	+	3	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000428554.2_Missense_Mutation_p.D119N|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.D119N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	119						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TACCTGTAAAGATCCTGAATC	0.338																																																	0								ENSG00000186409						64	72	69					1																	43011180		2202	4300	6502	CCDC30	SO:0001583	missense	0			-	HGNC	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.355G>A	1.37:g.43011180G>A	ENSP00000340378:p.Asp119Asn	Somatic	0	119	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	90	37.50	Q14F06|Q5VVM5	Missense_Mutation	SNP							NULL	p.D119N	ENST00000340612.4	37	c.355	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752837	0.69648	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.51071	0.72;0.72;0.72	5.17	5.17	0.71159	.	0.358157	0.30723	N	0.009017	T	0.63129	0.2485	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.65253	-0.6213	10	0.62326	D	0.03	.	14.1548	0.65410	0.0:0.0:1.0:0.0	.	119	Q5VVM6	CCD30_HUMAN	N	119	ENSP00000397035:D119N;ENSP00000340378:D119N;ENSP00000339280:D119N	ENSP00000340378:D119N	D	+	1	0	CCDC30	42783767	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	3.376000	0.52417	2.402000	0.81655	0.462000	0.41574	GAT	-	NULL		0.338	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	protein_coding	OTTHUMT00000019524.3	G	NM_025030	-		43011180	1	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43011180	G	A	43011180	3	1	196	1	0	0	0	0	1	0	0	0	2807	942	33	2	365	2	CCDC30	1	43011180	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	963057	43011180	206239441	72	13344											
EBNA1BP2	149465	genome.wustl.edu	37	chr1	43638024	43638024	+	5'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtttgtcgttgctataGgaaccgctacggcgtttgaa	12	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43638024G>A	ENST00000372492.4	+	0	205				EBNA1BP2_ENST00000236051.2_5'Flank|WDR65_ENST00000528956.1_5'UTR|EBNA1BP2_ENST00000431635.2_Silent_p.S23S|EBNA1BP2_ENST00000472982.1_5'Flank	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTTGCTATAGGAACCGCTAC	0.542																																																	0								ENSG00000117395						76	70	72					1																	43638024		692	1591	2283	EBNA1BP2	SO:0001623	5_prime_UTR_variant	0			-	HGNC																												ENST00000372492.4:c.-120G>A	1.37:g.43638024G>A		Somatic	0	38	0		0.52429534266604	3	82.35	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	14.81	A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP							pfam_Ebp2	p.S23	ENST00000372492.4	37	c.69		1																																																																																			-	NULL		0.542	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	EBNA1BP2	protein_coding	OTTHUMT00000384325.1	G		-		43638024	-1	no_errors	ENST00000431635	ensembl	human	known	74_37	silent	SNP	1.000	A	A	43638024	G	A	43638024	1	1	196	0	1	0	0	0	0	0	0	0	4887	987	35	2		2	EBNA1BP2	1	43638024	5'UTR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	626844	43638024	205612597	73	13345											
TIE1	7075	genome.wustl.edu	37	chr1	43775167	43775167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgtccacatctggcGgccaagacagccggcgcttc	13	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43775167G>A	ENST00000372476.3	+	9	1376	c.1297G>A	c.(1297-1299)Ggc>Agc	p.G433S	TIE1_ENST00000433781.2_Missense_Mutation_p.G78S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	433					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACATCTGGCGGCCAAGACAG	0.582																																																	0								ENSG00000066056						95	83	87					1																	43775167		2203	4300	6503	TIE1	SO:0001583	missense	0			-	HGNC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1297G>A	1.37:g.43775167G>A	ENSP00000361554:p.Gly433Ser	Somatic	0	78	0		0.52429534266604	42	2.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	82	18.81	B5A949|B5A950	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G433S	ENST00000372476.3	37	c.1297	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.640307	0.96693	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.58940	0.3;0.3	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000966	T	0.77452	0.4132	M	0.78801	2.425	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	0.999;1.0;1.0;0.999;1.0	T	0.80951	-0.1153	10	0.72032	D	0.01	.	18.1658	0.89724	0.0:0.0:1.0:0.0	.	78;388;433;78;433	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	433;78	ENSP00000361554:G433S;ENSP00000411728:G78S	ENSP00000361554:G433S	G	+	1	0	TIE1	43547754	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.188000	0.94921	2.288000	0.76882	0.563000	0.77884	GGC	-	smart_Ig_sub		0.582	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	protein_coding	OTTHUMT00000019011.1	G	NM_005424	-		43775167	1	no_errors	ENST00000372476	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43775167	G	A	43775167	3	1	196	1	0	0	0	0	1	0	0	0	15900	1116	39	1	1331	1	TIE1	1	43775167	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	137143	43775167	205475454	74	13346											
DPH2	1802	genome.wustl.edu	37	chr1	44437598	44437598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttgtgctattagcctgtCctctgggtgctctagccccc	9	14	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:44437598C>T	ENST00000255108.3	+	4	1196	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	DPH2_ENST00000412950.2_Missense_Mutation_p.P207S|DPH2_ENST00000396758.2_Intron|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	342					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ATTAGCCTGTCCTCTGGGTGC	0.607																																																	0								ENSG00000132768						106	98	101					1																	44437598		2203	4300	6503	DPH2	SO:0001583	missense	0			-	HGNC	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1024C>T	1.37:g.44437598C>T	ENSP00000255108:p.Pro342Ser	Somatic	0	19	0		0.52429534266604	35	49.28	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	30.43	A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP							pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.P342S	ENST00000255108.3	37	c.1024	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908920	0.52439	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000459879	T;T;T	0.70749	-0.51;-0.51;-0.51	4.58	4.58	0.56647	.	0.056226	0.64402	D	0.000001	D	0.83308	0.5226	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.96	D	0.84160	0.0428	10	0.45353	T	0.12	-12.3625	14.4028	0.67060	0.0:0.8404:0.1596:0.0	.	207;342	B4DNI8;Q9BQC3	.;DPH2_HUMAN	S	342;207;115	ENSP00000255108:P342S;ENSP00000413862:P207S;ENSP00000432162:P115S	ENSP00000255108:P342S	P	+	1	0	DPH2	44210185	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	4.664000	0.61540	2.389000	0.81357	0.450000	0.29827	CCT	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.607	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	protein_coding	OTTHUMT00000022832.1	C	NM_001384	-		44437598	1	no_errors	ENST00000255108	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44437598	C	T	44437598	3	4	196	1	0	0	0	0	1	0	0	0	4722	855	30	2	1038	2	DPH2	1	44437598	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	662431	44437598	204813023	75	13347											
TOE1	114034	genome.wustl.edu	37	chr1	45806842	45806842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaggagatgtggccatcCctcctgctagccataaagac	9	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:45806842C>T	ENST00000372090.5	+	2	733	c.150C>T	c.(148-150)tcC>tcT	p.S50S	TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|TOE1_ENST00000539779.1_Intron|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	50						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGTGGCCATCCCTCCTGCTAG	0.537																																																	0								ENSG00000132773						125	107	113					1																	45806842		2203	4300	6503	TOE1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.150C>T	1.37:g.45806842C>T		Somatic	0	69	0		0.52429534266604	14	17.65	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	101	16.53	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Silent	SNP							pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.S50	ENST00000372090.5	37	c.150	CCDS521.1	1																																																																																			-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.537	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	protein_coding	OTTHUMT00000020517.1	C	NM_025077	-		45806842	1	no_errors	ENST00000372090	ensembl	human	known	74_37	silent	SNP	0.981	T	T	45806842	C	T	45806842	2	4	196	1	0	0	0	0	0	0	0	1	16356	610	22	2		2	TOE1	1	45806842	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1369244	45806842	203443779	76	13348											
NASP	4678	genome.wustl.edu	37	chr1	46079853	46079853	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagatcatttttaaaaGgtaaaactcttggtgcttct	7	6	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46079853G>A	ENST00000350030.3	+	8	1679	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K	NASP_ENST00000372052.4_Splice_Site_p.R165K|NASP_ENST00000537798.1_Splice_Site_p.R467K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Splice_Site_p.R192K|NASP_ENST00000402363.3_Splice_Site_p.R533K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	531	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATTTTTAAAAGGTAAAACTCT	0.388																																																	0								ENSG00000132780						76	82	80					1																	46079853		2203	4300	6503	NASP	SO:0001630	splice_region_variant	0			-	HGNC	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1592+1G>A	1.37:g.46079853G>A		Somatic	0	81	0		0.52429534266604	164	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	82	41.01	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP							pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R533K	ENST00000350030.3	37	c.1598	CCDS524.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.288139|5.288139	0.95517|0.95517	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000437901;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	.|T;T;T;T;T;T;T	.|0.73469	.|-0.75;1.03;1.03;1.03;1.03;-0.0;-0.75	5.73|5.73	4.81|4.81	0.61882|0.61882	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80428|0.80428	0.4621|0.4621	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.76494	.|0.999;0.995;0.534;0.664	.|D;D;P;P	.|0.80764	.|0.994;0.98;0.518;0.711	T|T	0.83194|0.83194	-0.0082|-0.0082	5|10	.|0.87932	.|D	.|0	-8.6789|-8.6789	16.4102|16.4102	0.83708|0.83708	0.0:0.0:0.8672:0.1328|0.0:0.0:0.8672:0.1328	.|.	.|467;192;531;533	.|F5H3J2;Q5T626;P49321;P49321-3	.|.;.;NASP_HUMAN;.	S|K	56|192;467;533;431;128;531;165;192	.|ENSP00000400792:R192K;ENSP00000438871:R467K;ENSP00000384529:R533K;ENSP00000432289:R128K;ENSP00000255120:R531K;ENSP00000361122:R165K;ENSP00000255121:R192K	.|ENSP00000345532:R431K	G|R	+|+	1|2	0|0	NASP|NASP	45852440|45852440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.549000|9.549000	0.98106|0.98106	1.539000|1.539000	0.49286|0.49286	-0.181000|-0.181000	0.13052|0.13052	GGC|AGG	-	NULL		0.388	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	protein_coding	OTTHUMT00000021533.2	G	NM_002482	-	Missense_Mutation	46079853	1	no_errors	ENST00000402363	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46079853	G	A	46079853	5	1	196	1	0	0	0	0	0	0	1	0	10174	1014	35	2	1699	2	NASP	1	46079853	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	273011	46079853	203170768	77	13349											
LRRC41	10489	genome.wustl.edu	37	chr1	46744895	46744895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggaggatgaatcctctgaGaaaacatctgccaaggccag	12	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46744895G>A	ENST00000343304.6	-	9	2463	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	726					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AATCCTCTGAGAAAACATCTG	0.547																																																	0								ENSG00000132128						60	57	58					1																	46744895		2203	4300	6503	LRRC41	SO:0001819	synonymous_variant	0			-	HGNC	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2178C>T	1.37:g.46744895G>A		Somatic	0	29	0		0.52429534266604	145	39.58	95	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	51	32.89	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.F726	ENST00000343304.6	37	c.2178	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	G	4.793	0.147376	0.09134	.	.	ENSG00000132128	ENST00000371972	.	.	.	5.21	3.34	0.38264	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51434	-0.8706	4	.	.	.	-13.9366	8.1625	0.31207	0.2377:0.0:0.7623:0.0	.	.	.	.	F	556	.	.	S	-	2	0	LRRC41	46517482	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.422000	0.34826	0.597000	0.29811	0.561000	0.74099	TCT	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	protein_coding	OTTHUMT00000021438.1	G	NM_006369	-		46744895	-1	no_errors	ENST00000343304	ensembl	human	known	74_37	silent	SNP	0.894	A	A	46744895	G	A	46744895	2	1	196	1	0	0	0	0	0	0	0	1	9001	933	33	2		2	LRRC41	1	46744895	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	665042	46744895	202505726	78	13350											
FAAH	2166	genome.wustl.edu	37	chr1	46879243	46879243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccctgaaaagcagtcatCctgatggctctggctccaga	10	13	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46879243C>T	ENST00000243167.8	+	15	1820	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	579					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AAGCAGTCATCCTGATGGCTC	0.607																																																	0								ENSG00000117480						141	98	112					1																	46879243		2203	4300	6503	FAAH	SO:0001583	missense	0			-	HGNC	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1736C>T	1.37:g.46879243C>T	ENSP00000243167:p.Ser579Phe	Somatic	0	40	0		0.52429534266604	18	5.26	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP							pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.S579F	ENST00000243167.8	37	c.1736	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027535	0.54683	.	.	ENSG00000117480	ENST00000243167	T	0.64618	-0.11	5.22	1.77	0.24775	.	1.345030	0.04742	N	0.422982	T	0.56396	0.1982	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	P	0.53401	0.725	T	0.48163	-0.9059	10	0.87932	D	0	-7.2076	3.3527	0.07158	0.1665:0.5623:0.1625:0.1087	.	579	O00519	FAAH1_HUMAN	F	579	ENSP00000243167:S579F	ENSP00000243167:S579F	S	+	2	0	FAAH	46651830	.	.	0.035000	0.18076	0.079000	0.17450	.	.	0.544000	0.28883	0.655000	0.94253	TCC	-	NULL		0.607	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	protein_coding	OTTHUMT00000021443.1	C	NM_001441	-		46879243	1	no_errors	ENST00000243167	ensembl	human	known	74_37	missense	SNP	0.008	T	T	46879243	C	T	46879243	3	4	196	1	0	0	0	0	1	0	0	0	5355	855	30	2	1794	2	FAAH	1	46879243	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	134348	46879243	202371378	79	13351											
CYP4B1	1580	genome.wustl.edu	37	chr1	47280766	47280766	+	Silent	SNP	G	G	T													gatgaagatgacatcaaactGtcagatgcagacctccgggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47280766G>T	ENST00000271153.4	+	8	936	c.900G>T	c.(898-900)ctG>ctT	p.L300L	CYP4B1_ENST00000371919.4_Silent_p.L286L|CYP4B1_ENST00000452782.2_Silent_p.L138L|CYP4B1_ENST00000371923.4_Silent_p.L301L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	300					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACATCAAACTGTCAGATGCAG	0.483																																																	0								ENSG00000142973						104	83	90					1																	47280766		2203	4300	6503	CYP4B1	SO:0001819	synonymous_variant	0			-	HGNC	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.900G>T	1.37:g.47280766G>T		Somatic	0	37	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450	p.C277F	ENST00000271153.4	37	c.830	CCDS542.1	1																																																																																			-	NULL		0.483	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	protein_coding	OTTHUMT00000021911.1	G	NM_000779	-		47280766	1	no_errors	ENST00000464439	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47280766	G	T	47280766	2	4	196	1	0	0	0	0	0	0	0	1	4187	1364	48	3		3	CYP4B1	1	47280766	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	401523	47280766	201969855	80	13352	207	2									
CYP4B1	1580	genome.wustl.edu	37	chr1	47280768	47280768	+	Missense_Mutation	SNP	C	C	T													tgaagatgacatcaaactgtCagatgcagacctccgggctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47280768C>T	ENST00000271153.4	+	8	938	c.902C>T	c.(901-903)tCa>tTa	p.S301L	CYP4B1_ENST00000371919.4_Missense_Mutation_p.S287L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.S139L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.S302L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	301					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ATCAAACTGTCAGATGCAGAC	0.488																																																	0								ENSG00000142973						104	83	90					1																	47280768		2203	4300	6503	CYP4B1	SO:0001583	missense	0			-	HGNC	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.902C>T	1.37:g.47280768C>T	ENSP00000271153:p.Ser301Leu	Somatic	0	37	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Nonsense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450	p.Q278*	ENST00000271153.4	37	c.832	CCDS542.1	1	.	.	.	.	.	.	.	.	.	.	c	19.77	3.889314	0.72524	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	D;D;T;D;D	0.81579	-1.51;-1.51;-0.63;-1.51;-1.51	5.85	5.85	0.93711	.	0.067619	0.64402	D	0.000007	D	0.91260	0.7245	M	0.84773	2.715	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.992;0.994	D;P;D	0.79784	0.993;0.903;0.942	D	0.91595	0.5290	10	0.72032	D	0.01	.	20.168	0.98156	0.0:1.0:0.0:0.0	.	287;302;301	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	L	302;301;287;139;138	ENSP00000360991:S302L;ENSP00000271153:S301L;ENSP00000360987:S287L;ENSP00000400413:S139L;ENSP00000437670:S138L	ENSP00000271153:S301L	S	+	2	0	CYP4B1	47053355	1.000000	0.71417	0.993000	0.49108	0.038000	0.13279	5.962000	0.70364	2.782000	0.95742	0.643000	0.83706	TCA	-	NULL		0.488	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	protein_coding	OTTHUMT00000021911.1	C	NM_000779	-		47280768	1	no_errors	ENST00000464439	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	47280768	C	T	47280768	3	4	196	1	0	0	0	0	1	0	0	0	4187	838	29	2	935	2	CYP4B1	1	47280768	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	47280768	201969853	81	13353	207	2									
CYP4B1	1580	genome.wustl.edu	37	chr1	47280916	47280916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtccgcgagatcctaggGgaccaggacttcttccagtg	14	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47280916G>A	ENST00000271153.4	+	8	1086	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	CYP4B1_ENST00000371919.4_Silent_p.G336G|CYP4B1_ENST00000452782.2_Silent_p.G188G|CYP4B1_ENST00000371923.4_Silent_p.G351G			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	350					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	AGATCCTAGGGGACCAGGACT	0.582																																																	0								ENSG00000142973						84	74	77					1																	47280916		2203	4300	6503	CYP4B1	SO:0001819	synonymous_variant	0			-	HGNC	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1050G>A	1.37:g.47280916G>A		Somatic	0	22	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.G351	ENST00000271153.4	37	c.1053	CCDS542.1	1																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	protein_coding	OTTHUMT00000021911.1	G	NM_000779	-		47280916	1	no_errors	ENST00000371923	ensembl	human	known	74_37	silent	SNP	0.574	A	A	47280916	G	A	47280916	2	1	196	1	0	0	0	0	0	0	0	1	4187	1219	43	2		2	CYP4B1	1	47280916	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	148	47280916	201969705	82	13354											
CYP4Z1	199974	genome.wustl.edu	37	chr1	47571853	47571853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatcaaggaatgcctccGcctctacgcaccggtagtaa	10	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47571853G>A	ENST00000334194.3	+	9	1124	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	374						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GAATGCCTCCGCCTCTACGCA	0.488																																																	0								ENSG00000186160						122	106	111					1																	47571853		2203	4300	6503	CYP4Z1	SO:0001583	missense	0			-	HGNC	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1121G>A	1.37:g.47571853G>A	ENSP00000334246:p.Arg374His	Somatic	0	111	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	101	32.89	Q5VVE4	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R374H	ENST00000334194.3	37	c.1121	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691267	0.88735	.	.	ENSG00000186160	ENST00000334194	D	0.97505	-4.41	3.25	3.25	0.37280	.	0.000000	0.64402	U	0.000002	D	0.98833	0.9606	H	0.96239	3.79	0.19775	N	0.999956	D	0.89917	1.0	D	0.97110	1.0	D	0.94179	0.7430	10	0.87932	D	0	.	13.8624	0.63569	0.0:0.0:1.0:0.0	.	374	Q86W10	CP4Z1_HUMAN	H	374	ENSP00000334246:R374H	ENSP00000334246:R374H	R	+	2	0	CYP4Z1	47344440	0.980000	0.34600	0.002000	0.10522	0.593000	0.36681	6.651000	0.74372	1.847000	0.53656	0.289000	0.19496	CGC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.488	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	protein_coding	OTTHUMT00000022020.1	G	NM_178134	-		47571853	1	no_errors	ENST00000334194	ensembl	human	known	74_37	missense	SNP	0.207	A	A	47571853	G	A	47571853	3	1	196	1	0	0	0	0	1	0	0	0	4196	1087	38	1	1155	1	CYP4Z1	1	47571853	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	290937	47571853	201678768	83	13355											
CYP4A22	284541	genome.wustl.edu	37	chr1	47610344	47610344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgctctggccacacaCcccaagcatcaggagaggtg	10	14	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47610344C>T	ENST00000371891.3	+	8	1051	c.1020C>T	c.(1018-1020)caC>caT	p.H340H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Silent_p.H340H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	340						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						TGGCCACACACCCCAAGCATC	0.597																																					Pancreas(88;1240 1470 2099 14214 37557)												0								ENSG00000162365						59	60	59					1																	47610344		2203	4300	6503	CYP4A22	SO:0001819	synonymous_variant	0			-	HGNC		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.1020C>T	1.37:g.47610344C>T		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.H340	ENST00000371891.3	37	c.1020	CCDS30707.1	1																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.597	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	protein_coding	OTTHUMT00000021635.1	C	XM_208213	-		47610344	1	no_errors	ENST00000371891	ensembl	human	known	74_37	silent	SNP	0.477	T	T	47610344	C	T	47610344	2	4	196	1	0	0	0	0	0	0	0	1	4186	506	18	2		2	CYP4A22	1	47610344	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	38491	47610344	201640277	84	13356											
STIL	6491	genome.wustl.edu	37	chr1	47717309	47717309	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtccatatctcttcatataTtttttggttgcaaatgacat	5	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47717309T>A	ENST00000360380.3	-	18	3726	c.3363A>T	c.(3361-3363)aaA>aaT	p.K1121N	STIL_ENST00000396221.2_Missense_Mutation_p.K1104N|STIL_ENST00000337817.5_Missense_Mutation_p.K1121N|STIL_ENST00000371877.3_Missense_Mutation_p.K1122N|STIL_ENST00000243182.6_Missense_Mutation_p.K1121N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1121					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATATATTTTTTGGTTG	0.373																																																	0								ENSG00000123473						156	159	158					1																	47717309		2203	4300	6503	STIL	SO:0001583	missense	0			-	HGNC	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3363A>T	1.37:g.47717309T>A	ENSP00000353544:p.Lys1121Asn	Somatic	0	72	0		0.52429534266604	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	55	35.29	Q5T0C5|Q68CN9	Missense_Mutation	SNP							NULL	p.K1122N	ENST00000360380.3	37	c.3366	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473859	0.63737	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.36878	1.24;1.24;1.23;1.43;1.24	5.48	0.699	0.18093	.	0.043791	0.85682	D	0.000000	T	0.48642	0.1511	L	0.59436	1.845	0.52501	D	0.999952	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.964;0.964;0.964	T	0.46359	-0.9197	10	0.87932	D	0	-23.6769	8.4028	0.32597	0.0:0.4036:0.0:0.5964	.	1104;1122;1121	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	N	1121;1121;1122;1104;1121	ENSP00000353544:K1121N;ENSP00000337367:K1121N;ENSP00000360944:K1122N;ENSP00000379523:K1104N;ENSP00000243182:K1121N	ENSP00000243182:K1121N	K	-	3	2	STIL	47489896	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.945000	0.29056	0.375000	0.24679	-0.621000	0.04028	AAA	-	NULL		0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	protein_coding	OTTHUMT00000021649.2	T	NM_003035	-		47717309	-1	no_errors	ENST00000371877	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47717309	T	A	47717309	3	1	196	1	0	0	0	0	1	0	0	0	15289	1490	52	5	504	5	STIL	1	47717309	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	106965	47717309	201533312	85	13357											
STIL	6491	genome.wustl.edu	37	chr1	47746546	47746546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatatcatgagatggcccAttatgagaagatggtttaat	9	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47746546A>G	ENST00000360380.3	-	13	1947	c.1584T>C	c.(1582-1584)aaT>aaC	p.N528N	STIL_ENST00000396221.2_Silent_p.N528N|STIL_ENST00000337817.5_Silent_p.N528N|STIL_ENST00000371877.3_Silent_p.N528N|STIL_ENST00000243182.6_Silent_p.N528N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	528					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAGATGGCCCATTATGAGAAG	0.408																																																	0								ENSG00000123473						125	128	127					1																	47746546		2203	4300	6503	STIL	SO:0001819	synonymous_variant	0			-	HGNC	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1584T>C	1.37:g.47746546A>G		Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64	Q5T0C5|Q68CN9	Silent	SNP							NULL	p.N528	ENST00000360380.3	37	c.1584	CCDS548.1	1																																																																																			-	NULL		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	protein_coding	OTTHUMT00000021649.2	A	NM_003035	-		47746546	-1	no_errors	ENST00000371877	ensembl	human	known	74_37	silent	SNP	0.002	G	G	47746546	A	G	47746546	2	3	196	1	0	0	0	0	0	0	0	1	15289	214	8	5		5	STIL	1	47746546	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	29237	47746546	201504075	86	13358											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52703568	52703568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcataactgtgataaaaGgacattacaaaacgatttac	6	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:52703568G>A	ENST00000371591.1	+	3	610	c.479G>A	c.(478-480)aGg>aAg	p.R160K	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R160K|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R160K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	160					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGTGATAAAAGGACATTACAA	0.373																																																	0								ENSG00000157077						71	69	70					1																	52703568		2203	4300	6503	ZFYVE9	SO:0001583	missense	0			-	HGNC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.479G>A	1.37:g.52703568G>A	ENSP00000360647:p.Arg160Lys	Somatic	0	76	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	63	38.83	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP							pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.R160K	ENST00000371591.1	37	c.479	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026547	0.35797	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.55413	1.0;0.52;1.03;1.03	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000018	T	0.36991	0.0987	N	0.24115	0.695	0.31162	N	0.704257	B;B;B	0.16603	0.001;0.001;0.018	B;B;B	0.12156	0.004;0.002;0.007	T	0.26467	-1.0102	10	0.17369	T	0.5	.	13.3197	0.60426	0.0754:0.0:0.9246:0.0	.	160;160;160	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	K	160	ENSP00000349737:R160K;ENSP00000355358:R160K;ENSP00000287727:R160K;ENSP00000360647:R160K	ENSP00000287727:R160K	R	+	2	0	ZFYVE9	52476156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.837000	0.55820	2.729000	0.93468	0.655000	0.94253	AGG	-	pirsf_Znf_FYVE_SARA/endofin		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	G	NM_007324	-		52703568	1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52703568	G	A	52703568	3	1	196	1	0	0	0	0	1	0	0	0	17678	1000	35	2	485	2	ZFYVE9	1	52703568	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4957022	52703568	196547053	87	13359											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52732455	52732455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctctgagctctccacctCccactgtgatggtacctgtg	10	14	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:52732455C>T	ENST00000371591.1	+	5	2538	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	ZFYVE9_ENST00000357206.2_Intron|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.P803S	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	803	SBD.				endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTCTCCACCTCCCACTGTGAT	0.512																																																	0								ENSG00000157077						106	89	95					1																	52732455		2203	4300	6503	ZFYVE9	SO:0001583	missense	0			-	HGNC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2407C>T	1.37:g.52732455C>T	ENSP00000360647:p.Pro803Ser	Somatic	0	100	0		0.52429534266604	2	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	70	33.33	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP							pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.P803S	ENST00000371591.1	37	c.2407	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054356	0.75960	.	.	ENSG00000157077	ENST00000287727;ENST00000371591	T;T	0.42513	0.97;0.97	4.97	4.97	0.65823	Smad anchor for receptor activation, Smad-binding domain (2);	0.000000	0.64402	D	0.000001	T	0.58764	0.2145	L	0.52573	1.65	0.80722	D	1	P	0.50943	0.94	D	0.64687	0.928	T	0.57441	-0.7811	10	0.44086	T	0.13	.	18.2554	0.90017	0.0:1.0:0.0:0.0	.	803	O95405	ZFYV9_HUMAN	S	803	ENSP00000287727:P803S;ENSP00000360647:P803S	ENSP00000287727:P803S	P	+	1	0	ZFYVE9	52505043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.722000	0.84778	2.297000	0.77311	0.655000	0.94253	CCC	-	pfam_SARA_Smad-bd,pirsf_Znf_FYVE_SARA/endofin		0.512	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	C	NM_007324	-		52732455	1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52732455	C	T	52732455	3	4	196	1	0	0	0	0	1	0	0	0	17678	855	30	2	2432	2	ZFYVE9	1	52732455	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	28887	52732455	196518166	88	13360											
SCP2	6342	genome.wustl.edu	37	chr1	53516325	53516325	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcactggcaacatgggtctCgctatgaagttacaaaatct	8	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:53516325C>T	ENST00000528311.1	+	15	1646	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	SCP2_ENST00000435345.2_Silent_p.L127L|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000371509.4_Silent_p.L487L|SCP2_ENST00000430330.2_Silent_p.L124L|SCP2_ENST00000371514.3_Silent_p.L531L|SCP2_ENST00000407246.2_Silent_p.L507L	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ACATGGGTCTCGCTATGAAGT	0.368																																																	0								ENSG00000116171						127	129	129					1																	53516325		2203	4300	6503	SCP2	SO:0001819	synonymous_variant	0			-	HGNC	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1350C>T	1.37:g.53516325C>T		Somatic	0	53	0		0.52429534266604	176	28.16	69	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	45	38.36	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP							pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.L531	ENST00000528311.1	37	c.1593	CCDS53319.1	1																																																																																			-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom		0.368	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	SCP2	protein_coding	OTTHUMT00000387558.1	C	NM_002979	-		53516325	1	no_errors	ENST00000371514	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53516325	C	T	53516325	2	4	196	1	0	0	0	0	0	0	0	1	13942	871	31	1		1	SCP2	1	53516325	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	783870	53516325	195734296	89	13361											
DIO1	1733	genome.wustl.edu	37	chr1	54371793	54371793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttttaagaacaacatGgacatcagaaatcaccagaa	8	8	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:54371793G>A	ENST00000361921.3	+	3	531	c.507G>A	c.(505-507)atG>atA	p.M169I	DIO1_ENST00000525202.1_Missense_Mutation_p.M105I|DIO1_ENST00000524406.1_Missense_Mutation_p.M40I|DIO1_ENST00000388876.3_Missense_Mutation_p.M121I|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	169					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AGAACAACATGGACATCAGAA	0.547																																																	0								ENSG00000211452						66	63	64					1																	54371793		2203	4300	6503	DIO1	SO:0001583	missense	0			-	HGNC		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.507G>A	1.37:g.54371793G>A	ENSP00000354643:p.Met169Ile	Somatic	0	28	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP							pfam_Iodothyronine_deiodinase	p.M121I	ENST00000361921.3	37	c.363	CCDS41339.1	1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100527	0.37048	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000525202;ENST00000524406;ENST00000388876	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.83	3.89	0.44902	Thioredoxin-like fold (1);	0.636054	0.14549	N	0.312759	T	0.13586	0.0329	N	0.04090	-0.28	0.24406	N	0.99469	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.12837	0.001;0.008;0.0	T	0.08911	-1.0699	10	0.32370	T	0.25	.	7.0476	0.25055	0.0913:0.0:0.6252:0.2834	.	169;105;121	P49895;P49895-2;P49895-4	IOD1_HUMAN;.;.	I	126;169;105;40;121	ENSP00000432797:M126I;ENSP00000354643:M169I;ENSP00000435725:M105I;ENSP00000434152:M40I;ENSP00000373528:M121I	ENSP00000354643:M169I	M	+	3	0	DIO1	54144381	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.437000	0.21543	2.364000	0.80123	0.561000	0.74099	ATG	-	pfam_Iodothyronine_deiodinase		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO1	protein_coding	OTTHUMT00000023247.3	G		-		54371793	1	no_errors	ENST00000388876	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54371793	G	A	54371793	3	1	196	1	0	0	0	0	1	0	0	0	4526	1348	47	2	517	2	DIO1	1	54371793	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	855468	54371793	194878828	90	13362											
CYB5RL	606495	genome.wustl.edu	37	chr1	54644984	54644984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggataggcaccatgggGgccaggcccgtgcccgcagc	16	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:54644984G>A	ENST00000534324.1	-	5	581	c.582C>T	c.(580-582)gcC>gcT	p.A194A	CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000401046.3_Silent_p.A46A|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Silent_p.A194A|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000419823.2_Silent_p.A194A			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	194							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCACCATGGGGGCCAGGCCCG	0.547																																																	0								ENSG00000215883						44	49	48					1																	54644984		1994	4162	6156	CYB5RL	SO:0001819	synonymous_variant	0			-	HGNC		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.582C>T	1.37:g.54644984G>A		Somatic	0	65	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	67	17.07	B7ZBS4|Q8NF25	Silent	SNP							pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.A194	ENST00000534324.1	37	c.582	CCDS44151.1	1																																																																																			-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase		0.547	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	protein_coding	OTTHUMT00000388318.1	G	NM_001031672	-		54644984	-1	no_errors	ENST00000419823	ensembl	human	known	74_37	silent	SNP	0.993	A	A	54644984	G	A	54644984	2	1	196	1	0	0	0	0	0	0	0	1	4132	1219	43	2		2	CYB5RL	1	54644984	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	273191	54644984	194605637	91	13363											
C1orf175	374977	genome.wustl.edu	37	chr1	55118895	55118895	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccctccagatcaccagttCttgttctggtgaagccctgg	9	14	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55118895C>T	ENST00000421030.2	+	3	581	c.296C>T	c.(295-297)tCt>tTt	p.S99F	MROH7_ENST00000339553.5_Missense_Mutation_p.S99F|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S99F|MROH7_ENST00000454855.2_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S99F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	99						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATCACCAGTTCTTGTTCTGGT	0.587																																																	0								ENSG00000271723						89	88	88					1																	55118895		1971	4151	6122	MROH7-TTC4	SO:0001583	missense	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.296C>T	1.37:g.55118895C>T	ENSP00000396622:p.Ser99Phe	Somatic	0	28	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.S99F	ENST00000421030.2	37	c.296	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843831	0.32606	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02656	4.73;4.21;4.22	3.17	1.18	0.20946	.	2.134560	0.02733	N	0.115385	T	0.02380	0.0073	N	0.19112	0.55	0.09310	N	1	B;P;B	0.39624	0.002;0.681;0.025	B;B;B	0.33121	0.005;0.158;0.007	T	0.37291	-0.9712	10	0.87932	D	0	.	4.3725	0.11255	0.0:0.6311:0.2351:0.1338	.	99;99;99	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	F	99	ENSP00000396622:S99F;ENSP00000343211:S99F;ENSP00000379044:S99F	ENSP00000343211:S99F	S	+	2	0	HEATR8	54891483	0.003000	0.15002	0.000000	0.03702	0.061000	0.15899	2.026000	0.41069	0.338000	0.23692	0.556000	0.70494	TCT	-	NULL		0.587	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	C	NM_198547	-		55118895	1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55118895	C	T	55118895	3	4	196	1	0	0	0	0	1	0	0	0	2018	913	32	2	298	2	C1orf175	1	55118895	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	473911	55118895	194131726	92	13364											
C1orf175	374977	genome.wustl.edu	37	chr1	55136211	55136211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattctctctcaagctcCgtccgcaagcaggccatgga	10	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55136211C>T	ENST00000421030.2	+	6	1716	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	MROH7_ENST00000339553.5_Silent_p.S477S|MROH7_ENST00000409996.1_Silent_p.S45S|MROH7_ENST00000545244.1_Silent_p.S45S|MROH7_ENST00000395690.2_Silent_p.S477S|MROH7_ENST00000454855.2_5'UTR|MROH7-TTC4_ENST00000414150.2_Silent_p.S477S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	477						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCTCAAGCTCCGTCCGCAAGC	0.637																																																	0								ENSG00000271723						40	46	44					1																	55136211		2049	4173	6222	MROH7-TTC4	SO:0001819	synonymous_variant	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1431C>T	1.37:g.55136211C>T		Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	74	30.84	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP							superfamily_ARM-type_fold	p.S477	ENST00000421030.2	37	c.1431	CCDS41342.2	1																																																																																			-	superfamily_ARM-type_fold		0.637	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	C	NM_198547	-		55136211	1	no_errors	ENST00000414150	ensembl	human	known	74_37	silent	SNP	0.001	T	T	55136211	C	T	55136211	2	4	196	1	0	0	0	0	0	0	0	1	2018	639	23	1		1	C1orf175	1	55136211	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	17316	55136211	194114410	93	13365											
C1orf175	374977	genome.wustl.edu	37	chr1	55145059	55145059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgatgcagctggcctcgGaggtcatgctcagctcggtg	15	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55145059G>A	ENST00000421030.2	+	12	2458	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	MROH7_ENST00000339553.5_Missense_Mutation_p.E725K|MROH7_ENST00000409996.1_Missense_Mutation_p.E293K|MROH7_ENST00000545244.1_Missense_Mutation_p.E293K|MROH7_ENST00000395690.2_Missense_Mutation_p.E725K|MROH7_ENST00000454855.2_Missense_Mutation_p.E243K|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.E725K	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	725						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTGGCCTCGGAGGTCATGCT	0.647																																																	0								ENSG00000271723						37	45	42					1																	55145059		2078	4224	6302	MROH7-TTC4	SO:0001583	missense	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2173G>A	1.37:g.55145059G>A	ENSP00000396622:p.Glu725Lys	Somatic	0	34	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.E725K	ENST00000421030.2	37	c.2173	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688696	0.88639	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	4.88	4.88	0.63580	.	0.156944	0.30483	N	0.009538	T	0.43919	0.1269	M	0.62723	1.935	0.35691	D	0.814848	D;D;B	0.56035	0.969;0.974;0.372	P;P;B	0.55011	0.766;0.647;0.098	T	0.52895	-0.8514	10	0.30854	T	0.27	-4.959	13.5523	0.61738	0.0:0.0:1.0:0.0	.	725;725;293	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	K	725;293;754;725;293;243;725	ENSP00000396622:E725K;ENSP00000442333:E293K;ENSP00000343211:E725K;ENSP00000387048:E293K;ENSP00000401130:E243K;ENSP00000379044:E725K	ENSP00000343211:E725K	E	+	1	0	HEATR8	54917647	0.996000	0.38824	0.990000	0.47175	0.995000	0.86356	2.967000	0.49216	2.250000	0.74265	0.557000	0.71058	GAG	-	superfamily_ARM-type_fold		0.647	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	G	NM_198547	-		55145059	1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	SNP	0.986	A	A	55145059	G	A	55145059	3	1	196	1	0	0	0	0	1	0	0	0	2018	1175	41	2	2211	2	C1orf175	1	55145059	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8848	55145059	194105562	94	13366											
C1orf175	374977	genome.wustl.edu	37	chr1	55152086	55152086	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcctcccaaggacaccaaGaagggtgcacagccctctcc	9	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55152086G>A	ENST00000421030.2	+	15	2961	c.2676G>A	c.(2674-2676)aaG>aaA	p.K892K	MROH7_ENST00000339553.5_Silent_p.K892K|MROH7_ENST00000409996.1_Silent_p.K460K|MROH7_ENST00000545244.1_Silent_p.K460K|MROH7_ENST00000395690.2_Silent_p.K892K|MROH7_ENST00000454855.2_Silent_p.K410K|MROH7-TTC4_ENST00000414150.2_Silent_p.K892K	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	892						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGGACACCAAGAAGGGTGCAC	0.627																																																	0								ENSG00000271723						79	87	85					1																	55152086		2187	4262	6449	MROH7-TTC4	SO:0001819	synonymous_variant	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2676G>A	1.37:g.55152086G>A		Somatic	0	30	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP							superfamily_ARM-type_fold	p.K892	ENST00000421030.2	37	c.2676	CCDS41342.2	1																																																																																			-	superfamily_ARM-type_fold		0.627	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	G	NM_198547	-		55152086	1	no_errors	ENST00000414150	ensembl	human	known	74_37	silent	SNP	0.226	A	A	55152086	G	A	55152086	2	1	196	1	0	0	0	0	0	0	0	1	2018	933	33	2		2	C1orf175	1	55152086	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7027	55152086	194098535	95	13367											
DHCR24	1718	genome.wustl.edu	37	chr1	55340802	55340802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgccatcagccaggacCagctcgtaagcagtgcagat	11	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55340802C>T	ENST00000371269.3	-	4	674	c.576G>A	c.(574-576)ctG>ctA	p.L192L	DHCR24_ENST00000537443.1_Silent_p.L24L|DHCR24_ENST00000535035.1_Silent_p.L151L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	192	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|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)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAGCCAGGACCAGCTCGTAAG	0.557																																					Pancreas(39;516 1021 24601 30715 32780)												0								ENSG00000116133						166	116	133					1																	55340802		2203	4300	6503	DHCR24	SO:0001819	synonymous_variant	0			-	HGNC	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.576G>A	1.37:g.55340802C>T		Somatic	0	33	0		0.52429534266604	36	10	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	B7Z817|D3DQ51|Q9HBA8	Silent	SNP							pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.L192	ENST00000371269.3	37	c.576	CCDS600.1	1																																																																																			-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2		0.557	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	protein_coding	OTTHUMT00000027680.1	C	NM_014762	-		55340802	-1	no_errors	ENST00000371269	ensembl	human	known	74_37	silent	SNP	1.000	T	T	55340802	C	T	55340802	2	4	196	1	0	0	0	0	0	0	0	1	4478	581	21	2		2	DHCR24	1	55340802	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	188716	55340802	193909819	96	13368											
BSND	7809	genome.wustl.edu	37	chr1	55472945	55472945	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaactcagagctggcccgGgtgagtgcttagagggcagg	16	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55472945G>A	ENST00000371265.4	+	3	802	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	183					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGCTGGCCCGGGTGAGTGCTT	0.637																																					Ovarian(191;1657 2078 22894 42033 48899)												0								ENSG00000162399						57	53	55					1																	55472945		2203	4300	6503	BSND	SO:0001630	splice_region_variant	0			-	HGNC	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.548+1G>A	1.37:g.55472945G>A		Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	74	32.73	Q6NT28	Missense_Mutation	SNP							NULL	p.G183D	ENST00000371265.4	37	c.548	CCDS602.1	1	.	.	.	.	.	.	.	.	.	.	G	3.342	-0.134475	0.06711	.	.	ENSG00000162399	ENST00000371265	T	0.64991	-0.13	3.89	2.98	0.34508	.	0.800994	0.10874	N	0.624585	T	0.47192	0.1432	L	0.44542	1.39	0.28450	N	0.916389	B	0.06786	0.001	B	0.11329	0.006	T	0.41378	-0.9512	10	0.05436	T	0.98	-6.1532	7.7692	0.28997	0.1139:0.0:0.8861:0.0	.	183	Q8WZ55	BSND_HUMAN	D	183	ENSP00000360312:G183D	ENSP00000360312:G183D	G	+	2	0	BSND	55245533	0.987000	0.35691	0.782000	0.31804	0.008000	0.06430	2.215000	0.42862	1.223000	0.43536	-0.455000	0.05494	GGC	-	NULL		0.637	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	protein_coding	OTTHUMT00000022213.4	G	NM_057176	-	Missense_Mutation	55472945	1	no_errors	ENST00000371265	ensembl	human	known	74_37	missense	SNP	0.791	A	A	55472945	G	A	55472945	5	1	196	1	0	0	0	0	0	0	1	0	1533	1246	43	2	558	2	BSND	1	55472945	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	132143	55472945	193777676	97	13369											
C8B	732	genome.wustl.edu	37	chr1	57406609	57406609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctcctggtatgccagGgtggtgatgtgctcacttgc	15	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:57406609G>A	ENST00000371237.4	-	9	1377	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	C8B_ENST00000535057.1_Silent_p.T375T|C8B_ENST00000543257.1_Silent_p.T385T	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	437	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGTATGCCAGGGTGGTGATGT	0.572																																																	0								ENSG00000021852						161	118	132					1																	57406609		2203	4300	6503	C8B	SO:0001819	synonymous_variant	0			-	HGNC	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1311C>T	1.37:g.57406609G>A		Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	66	29.03	A1L4K7	Silent	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.T437	ENST00000371237.4	37	c.1311	CCDS30730.1	1																																																																																			-	pfam_MACPF,smart_MACPF		0.572	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	protein_coding	OTTHUMT00000022886.2	G		-		57406609	-1	no_errors	ENST00000371237	ensembl	human	known	74_37	silent	SNP	0.918	A	A	57406609	G	A	57406609	2	1	196	1	0	0	0	0	0	0	0	1	2419	1219	43	2		2	C8B	1	57406609	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1933664	57406609	191844012	98	13370											
CYP2J2	1573	genome.wustl.edu	37	chr1	60359339	60359339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatattacacctgaggaacaGcgcagaggcggtgactgact	12	9	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:60359339G>A	ENST00000371204.3	-	9	1536	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	498					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTGAGGAACAGCGCAGAGGCG	0.463																																																	0								ENSG00000134716						293	317	309					1																	60359339		2203	4300	6503	CYP2J2	SO:0001583	missense	0			-	HGNC	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1493C>T	1.37:g.60359339G>A	ENSP00000360247:p.Ala498Val	Somatic	0	82	0		0.52429534266604	4	55.56	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	73	30.48	B2RD33|Q8TF13	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.A498V	ENST00000371204.3	37	c.1493	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.962125	0.97151	.	.	ENSG00000134716	ENST00000371204	T	0.78126	-1.15	5.88	5.88	0.94601	.	0.054253	0.64402	D	0.000001	D	0.85745	0.5768	M	0.69823	2.125	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.80739	-0.1248	10	0.10377	T	0.69	.	17.1682	0.86821	0.0:0.0:1.0:0.0	.	498	P51589	CP2J2_HUMAN	V	498	ENSP00000360247:A498V	ENSP00000360247:A498V	A	-	2	0	CYP2J2	60131927	1.000000	0.71417	0.926000	0.36857	0.602000	0.36980	5.987000	0.70571	2.794000	0.96219	0.655000	0.94253	GCT	-	superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2J-like		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	protein_coding	OTTHUMT00000024940.1	G	NM_000775	-		60359339	-1	no_errors	ENST00000371204	ensembl	human	known	74_37	missense	SNP	1.000	A	A	60359339	G	A	60359339	3	1	196	1	0	0	0	0	1	0	0	0	4174	971	34	2	19	2	CYP2J2	1	60359339	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2952730	60359339	188891282	99	13371											
NFIA	4774	genome.wustl.edu	37	chr1	61892191	61892191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgtcagtgttggaccacGggatccaagctttgtaaata	10	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:61892191G>A	ENST00000403491.3	+	10	1959	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	NFIA_ENST00000371189.4_Missense_Mutation_p.R537Q|NFIA_ENST00000371191.1_Missense_Mutation_p.R515Q|NFIA_ENST00000357977.5_Missense_Mutation_p.R140Q|NFIA_ENST00000485903.2_Missense_Mutation_p.R449Q|NFIA_ENST00000371187.3_Intron|NFIA_ENST00000371185.2_Missense_Mutation_p.R470Q|NFIA_ENST00000371184.2_Missense_Mutation_p.R363Q|NFIA_ENST00000407417.3_Missense_Mutation_p.R484Q	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	492					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTTGGACCACGGGATCCAAGC	0.512																																																	0								ENSG00000162599						101	94	96					1																	61892191		692	1591	2283	NFIA	SO:0001583	missense	0			-	HGNC	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1475G>A	1.37:g.61892191G>A	ENSP00000384523:p.Arg492Gln	Somatic	0	88	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	82	40.58	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP							pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R537Q	ENST00000403491.3	37	c.1610	CCDS44156.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.577595	0.96565	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.79	5.79	0.91817	.	0.055148	0.64402	D	0.000001	T	0.75715	0.3887	M	0.76328	2.33	0.40344	D	0.979062	D;P;D;P	0.69078	0.997;0.913;0.992;0.913	D;P;D;P	0.70227	0.964;0.863;0.968;0.863	T	0.70988	-0.4722	10	0.23891	T	0.37	-13.2223	20.0435	0.97601	0.0:0.0:1.0:0.0	.	537;515;470;492	F8W8W3;B1AKN8;B1AKN5;Q12857	.;.;.;NFIA_HUMAN	Q	515;484;537;492;470;363;449	ENSP00000360233:R515Q;ENSP00000384680:R484Q;ENSP00000360231:R537Q;ENSP00000384523:R492Q;ENSP00000360227:R470Q;ENSP00000360226:R363Q	ENSP00000360226:R363Q	R	+	2	0	NFIA	61664779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.530000	0.90606	2.731000	0.93534	0.650000	0.86243	CGG	-	pfam_CTF/NFI		0.512	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	protein_coding	OTTHUMT00000023799.3	G	NM_005595	-		61892191	1	no_errors	ENST00000371189	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61892191	G	A	61892191	3	1	196	1	0	0	0	0	1	0	0	0	10372	1116	39	1	1659	1	NFIA	1	61892191	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1532852	61892191	187358430	100	13372											
PGM1	5236	genome.wustl.edu	37	chr1	64095223	64095223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacccagggggccccaatgGagattttggaatcaaattca	10	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:64095223G>A	ENST00000371084.3	+	2	587	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371083.4_Missense_Mutation_p.G143E	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	125					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCCCCAATGGAGATTTTGGA	0.438																																																	0								ENSG00000079739						88	102	97					1																	64095223		2203	4300	6503	PGM1	SO:0001583	missense	0			-	HGNC	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.374G>A	1.37:g.64095223G>A	ENSP00000360125:p.Gly125Glu	Somatic	0	60	0		0.52429534266604	48	31.43	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	65	30.85	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP							pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.G143E	ENST00000371084.3	37	c.428	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548294	0.65311	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000371083	T;T	0.72942	-0.7;-0.7	5.48	5.48	0.80851	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	L	0.28274	0.84	0.80722	D	1	P;D	0.76494	0.693;0.999	B;D	0.74674	0.359;0.984	T	0.62077	-0.6930	10	0.15952	T	0.53	-30.1472	19.7462	0.96252	0.0:0.0:1.0:0.0	.	143;125	P36871-2;P36871	.;PGM1_HUMAN	E	101;125;143	ENSP00000360125:G125E;ENSP00000360124:G143E	ENSP00000360124:G143E	G	+	2	0	PGM1	63867811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.736000	0.93811	0.655000	0.94253	GGA	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.438	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	protein_coding	OTTHUMT00000024868.1	G	NM_002633	-		64095223	1	no_errors	ENST00000371083	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64095223	G	A	64095223	3	1	196	1	0	0	0	0	1	0	0	0	11799	1174	41	2	684	2	PGM1	1	64095223	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2203032	64095223	185155398	101	13373											
WLS	79971	genome.wustl.edu	37	chr1	68616031	68616031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaaatcccaagggcaAagatgactctgatggtgaga	12	7	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:68616031A>G	ENST00000262348.4	-	6	1065	c.812T>C	c.(811-813)tTt>tCt	p.F271S	WLS_ENST00000540432.1_Missense_Mutation_p.F271S|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.F180S|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.F269S	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	271					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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CCCAAGGGCAAAGATGACTCT	0.438																																																	0								ENSG00000116729						91	88	89					1																	68616031		2203	4300	6503	WLS	SO:0001583	missense	0			-	HGNC	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.812T>C	1.37:g.68616031A>G	ENSP00000262348:p.Phe271Ser	Somatic	0	56	0		0.52429534266604	29	43.14	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	41	36.36	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP							NULL	p.F271S	ENST00000262348.4	37	c.812	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432836	0.83776	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.24	5.24	0.73138	.	0.152379	0.64402	D	0.000014	T	0.47414	0.1444	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D	0.76494	0.973;0.977;0.999;0.973	P;P;D;P	0.68483	0.809;0.829;0.958;0.809	T	0.38286	-0.9668	10	0.29301	T	0.29	-22.6589	15.1576	0.72755	1.0:0.0:0.0:0.0	.	271;180;271;269	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	S	271;269;271;180	ENSP00000446112:F271S;ENSP00000346829:F269S;ENSP00000262348:F271S;ENSP00000360015:F180S	ENSP00000262348:F271S	F	-	2	0	WLS	68388619	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	8.730000	0.91510	1.987000	0.57996	0.460000	0.39030	TTT	-	NULL		0.438	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	protein_coding	OTTHUMT00000025368.1	A	NM_024911	-		68616031	-1	no_errors	ENST00000540432	ensembl	human	known	74_37	missense	SNP	1.000	G	G	68616031	A	G	68616031	3	3	196	1	0	0	0	0	1	0	0	0	17383	14	1	5	967	5	WLS	1	68616031	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	4520808	68616031	180634590	102	13374											
DEPDC1	55635	genome.wustl.edu	37	chr1	68947951	68947951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtactacttcttaaaaGcaaactctgagacctacaaa	4	10	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:68947951G>A	ENST00000456315.2	-	8	1654	c.1540C>T	c.(1540-1542)Ctt>Ttt	p.L514F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	514					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTTCTTAAAAGCAAACTCTGA	0.388																																																	0								ENSG00000024526						104	96	99					1																	68947951		1568	3582	5150	DEPDC1	SO:0001583	missense	0			-	HGNC	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1540C>T	1.37:g.68947951G>A	ENSP00000412292:p.Leu514Phe	Somatic	0	114	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	98	34.67	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP							pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.L514F	ENST00000456315.2	37	c.1540	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751877	0.49362	.	.	ENSG00000024526	ENST00000456315	T	0.11277	2.79	5.61	4.69	0.59074	Rho GTPase activation protein (1);	0.765712	0.12654	N	0.450236	T	0.08670	0.0215	L	0.27053	0.805	0.80722	D	1	D	0.56035	0.974	P	0.52267	0.694	T	0.12837	-1.0532	10	0.72032	D	0.01	-5.8843	14.9342	0.70941	0.0:0.1424:0.8576:0.0	.	514	Q5TB30	DEP1A_HUMAN	F	514	ENSP00000412292:L514F	ENSP00000412292:L514F	L	-	1	0	DEPDC1	68720539	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.094000	0.57721	1.356000	0.45884	0.650000	0.86243	CTT	-	superfamily_Rho_GTPase_activation_prot		0.388	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	protein_coding	OTTHUMT00000025514.2	G	NM_017779	-		68947951	-1	no_errors	ENST00000456315	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68947951	G	A	68947951	3	1	196	1	0	0	0	0	1	0	0	0	4441	971	34	2	915	2	DEPDC1	1	68947951	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	331920	68947951	180302670	103	13375											
LRRC7	57554	genome.wustl.edu	37	chr1	70225939	70225939	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgccatgccgatgtttcCgaggtgaagaagaaatcatc	12	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:70225939C>T	ENST00000035383.5	+	1	82	c.52C>T	c.(52-54)Cga>Tga	p.R18*	LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R56*|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R23*|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	18						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R18*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGATGTTTCCGAGGTGAAGA	0.463																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000033122						55	55	55					1																	70225939		2203	4299	6502	LRRC7	SO:0001587	stop_gained	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.52C>T	1.37:g.70225939C>T	ENSP00000035383:p.Arg18*	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	32.31	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R18*	ENST00000035383.5	37	c.52	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.052384	0.99050	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8425	0.92189	0.0:1.0:0.0:0.0	.	.	.	.	X	23;56;18;18	.	ENSP00000035383:R18X	R	+	1	2	LRRC7	69998527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	CGA	-	NULL		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	C	NM_020794	-		70225939	1	no_errors	ENST00000035383	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	70225939	C	T	70225939	4	4	196	1	0	0	0	0	0	1	0	0	9022	644	23	1	54	1	LRRC7	1	70225939	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1277988	70225939	179024682	104	13376											
NEGR1	257194	genome.wustl.edu	37	chr1	72163699	72163699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgacacttacagttgacaAcaacttttactttcctcaca	4	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:72163699A>G	ENST00000357731.5	-	4	898	c.659T>C	c.(658-660)gTt>gCt	p.V220A	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.V92A	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	220	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACAGTTGACAACAACTTTTAC	0.353																																																	0								ENSG00000172260						117	108	111					1																	72163699		2202	4300	6502	NEGR1	SO:0001583	missense	0			-	HGNC	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.659T>C	1.37:g.72163699A>G	ENSP00000350364:p.Val220Ala	Somatic	0	89	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	47	44.05	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V220A	ENST00000357731.5	37	c.659	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213054	0.39102	.	.	ENSG00000172260	ENST00000357731;ENST00000306821	T;T	0.54866	0.55;0.71	5.58	4.47	0.54385	Immunoglobulin-like (1);	0.236115	0.41194	D	0.000924	T	0.21921	0.0528	L	0.29908	0.895	0.80722	D	1	B	0.25206	0.12	B	0.29524	0.103	T	0.16512	-1.0400	10	0.39692	T	0.17	-7.5873	4.8676	0.13616	0.7321:0.0:0.2679:0.0	.	220	Q7Z3B1	NEGR1_HUMAN	A	220;92	ENSP00000350364:V220A;ENSP00000305938:V92A	ENSP00000305938:V92A	V	-	2	0	NEGR1	71936287	1.000000	0.71417	0.964000	0.40570	0.096000	0.18686	3.407000	0.52644	2.127000	0.65507	0.482000	0.46254	GTT	-	smart_Ig_sub,pfscan_Ig-like_dom		0.353	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	protein_coding	OTTHUMT00000026722.4	A	NM_173808	-		72163699	-1	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72163699	A	G	72163699	3	3	196	1	0	0	0	0	1	0	0	0	10319	43	2	5	421	5	NEGR1	1	72163699	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1937760	72163699	177086922	105	13377											
ST6GALNAC5	81849	genome.wustl.edu	37	chr1	77510053	77510053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatcgcaccagcctgagGgtcatcgcgcattccagcat	11	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:77510053G>A	ENST00000477717.1	+	3	661	c.426G>A	c.(424-426)agG>agA	p.R142R		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	142					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCTGAGGGTCATCGCGC	0.622																																																	0								ENSG00000117069						78	67	71					1																	77510053		2203	4300	6503	ST6GALNAC5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.426G>A	1.37:g.77510053G>A		Somatic	0	52	0		0.52429534266604	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.00	B1AK82	Silent	SNP							pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R142	ENST00000477717.1	37	c.426	CCDS673.1	1																																																																																			-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.622	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	protein_coding	OTTHUMT00000026692.2	G	NM_030965	-		77510053	1	no_errors	ENST00000477717	ensembl	human	known	74_37	silent	SNP	0.994	A	A	77510053	G	A	77510053	2	1	196	1	0	0	0	0	0	0	0	1	15234	1223	43	2		2	ST6GALNAC5	1	77510053	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5346354	77510053	171740568	106	13378											
AK5	26289	genome.wustl.edu	37	chr1	77987609	77987609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggaggtgaagcaagGggaagagttcggacgcaggg	19	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:77987609G>A	ENST00000354567.2	+	12	1672	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	AK5_ENST00000344720.5_Missense_Mutation_p.G444E	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	470	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTGAAGCAAGGGGAAGAGTTC	0.547																																																	0								ENSG00000154027						53	54	54					1																	77987609		2203	4300	6503	AK5	SO:0001583	missense	0			-	HGNC	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1409G>A	1.37:g.77987609G>A	ENSP00000346577:p.Gly470Glu	Somatic	0	62	0		0.52429534266604	485	0.61	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	74	29.52	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP							pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.G470E	ENST00000354567.2	37	c.1409	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949642	0.73787	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.76968	-1.06;-1.06	4.76	3.84	0.44239	.	0.199279	0.32106	N	0.006562	T	0.73249	0.3563	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.77038	-0.2736	10	0.72032	D	0.01	-6.8036	8.4947	0.33121	0.0881:0.1558:0.7561:0.0	.	470	Q9Y6K8	KAD5_HUMAN	E	470;444	ENSP00000346577:G470E;ENSP00000341430:G444E	ENSP00000341430:G444E	G	+	2	0	AK5	77760197	0.994000	0.37717	0.998000	0.56505	0.986000	0.74619	1.799000	0.38824	1.113000	0.41760	0.650000	0.86243	GGG	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenylate_kin1		0.547	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	protein_coding	OTTHUMT00000026993.4	G	NM_174858	-		77987609	1	no_errors	ENST00000354567	ensembl	human	known	74_37	missense	SNP	0.996	A	A	77987609	G	A	77987609	3	1	196	1	0	0	0	0	1	0	0	0	443	1232	43	2	1455	2	AK5	1	77987609	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	477556	77987609	171263012	107	13379											
FAM73A	374986	genome.wustl.edu	37	chr1	78338777	78338777	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttttgggtcctagaaattCtctgtatgatttatgttgct	8	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:78338777C>T	ENST00000370791.3	+	15	1684	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	FAM73A_ENST00000443751.2_Missense_Mutation_p.S514F	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	551						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCTAGAAATTCTCTGTATGAT	0.363																																																	0								ENSG00000180488						175	169	171					1																	78338777		2203	4300	6503	FAM73A	SO:0001583	missense	0			-	HGNC		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1652C>T	1.37:g.78338777C>T	ENSP00000359827:p.Ser551Phe	Somatic	0	86	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	86	12.24	Q6MZG0	Missense_Mutation	SNP							pfam_DUF2217	p.S551F	ENST00000370791.3	37	c.1652	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532347	0.85812	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.24151	1.87;1.87	5.67	5.67	0.87782	.	0.054406	0.85682	D	0.000000	T	0.45776	0.1359	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.71656	0.974;0.948;0.948	T	0.41270	-0.9518	10	0.66056	D	0.02	-41.9077	19.7691	0.96356	0.0:1.0:0.0:0.0	.	514;552;551	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	F	551;514	ENSP00000359827:S551F;ENSP00000393675:S514F	ENSP00000359827:S551F	S	+	2	0	FAM73A	78111365	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.518000	0.67068	2.689000	0.91719	0.462000	0.41574	TCT	-	pfam_DUF2217		0.363	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	protein_coding	OTTHUMT00000026931.1	C	NM_198549	-		78338777	1	no_errors	ENST00000370791	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78338777	C	T	78338777	3	4	196	1	0	0	0	0	1	0	0	0	5619	913	32	2	1710	2	FAM73A	1	78338777	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	351168	78338777	170911844	108	13380											
COL24A1	255631	genome.wustl.edu	37	chr1	86283740	86283740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcccaggtttcccagaagGaccaggagctccttttttcc	8	13	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86283740G>A	ENST00000370571.2	-	46	4186	c.3820C>T	c.(3820-3822)Cct>Tct	p.P1274S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1274S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1274	Collagen-like 14.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCAGAAGGACCAGGAGCT	0.408																																																	0								ENSG00000171502						124	125	125					1																	86283740		1837	4086	5923	COL24A1	SO:0001583	missense	0			-	HGNC	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3820C>T	1.37:g.86283740G>A	ENSP00000359603:p.Pro1274Ser	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	98	15.52	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P1274S	ENST00000370571.2	37	c.3820	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599838	0.28534	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.96802	-4.06;-4.13	5.76	4.84	0.62591	.	0.197140	0.25408	N	0.030891	D	0.91304	0.7258	L	0.58354	1.805	0.34363	D	0.691186	B;B	0.25105	0.118;0.097	B;B	0.33254	0.16;0.03	D	0.86358	0.1715	10	0.10377	T	0.69	.	14.0504	0.64732	0.0:0.1513:0.8487:0.0	.	1274;1274	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	S	1274	ENSP00000359603:P1274S;ENSP00000392531:P1274S	ENSP00000359603:P1274S	P	-	1	0	COL24A1	86056328	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.221000	0.58574	1.408000	0.46895	0.655000	0.94253	CCT	-	pfam_Collagen		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	protein_coding	OTTHUMT00000029335.4	G	NM_152890	-		86283740	-1	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	SNP	0.999	A	A	86283740	G	A	86283740	3	1	196	1	0	0	0	0	1	0	0	0	3685	1174	41	2	1384	2	COL24A1	1	86283740	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7944963	86283740	162966881	109	13381											
COL24A1	255631	genome.wustl.edu	37	chr1	86590695	86590695	+	Missense_Mutation	SNP	C	C	T													ccttagatcaaggtgattatCcacagatggctcatttgtca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86590695C>T	ENST00000370571.2	-	3	1690	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	COL24A1_ENST00000436319.1_Missense_Mutation_p.D442N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	442					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGTGATTATCCACAGATGGC	0.353																																																	0								ENSG00000171502						127	109	115					1																	86590695		1867	4101	5968	COL24A1	SO:0001583	missense	0			-	HGNC	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1324G>A	1.37:g.86590695C>T	ENSP00000359603:p.Asp442Asn	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	35.00	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.D442N	ENST00000370571.2	37	c.1324	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	8.301	0.820033	0.16678	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.18960	2.18;2.18	5.45	2.24	0.28232	.	0.183171	0.26460	N	0.024246	T	0.04092	0.0114	N	0.24115	0.695	0.44890	D	0.997907	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.006	T	0.25117	-1.0141	10	0.17832	T	0.49	.	5.4727	0.16678	0.1435:0.6359:0.1387:0.0819	.	442;442	F8WDM8;Q17RW2	.;COOA1_HUMAN	N	442	ENSP00000359603:D442N;ENSP00000392531:D442N	ENSP00000359603:D442N	D	-	1	0	COL24A1	86363283	0.998000	0.40836	0.997000	0.53966	0.753000	0.42808	0.464000	0.21988	0.566000	0.29273	0.563000	0.77884	GAT	-	NULL		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	protein_coding	OTTHUMT00000029335.4	C	NM_152890	-		86590695	-1	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	SNP	0.998	T	T	86590695	C	T	86590695	3	4	196	1	0	0	0	0	1	0	0	0	3685	855	30	2	4052	2	COL24A1	1	86590695	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	306955	86590695	162659926	110	13382	208	2									
COL24A1	255631	genome.wustl.edu	37	chr1	86590696	86590696	+	Silent	SNP	C	C	T													cttagatcaaggtgattatcCacagatggctcatttgtcac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86590696C>T	ENST00000370571.2	-	3	1689	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	COL24A1_ENST00000436319.1_Silent_p.V441V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	441					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTGATTATCCACAGATGGCT	0.353																																																	0								ENSG00000171502						125	108	114					1																	86590696		1868	4103	5971	COL24A1	SO:0001819	synonymous_variant	0			-	HGNC	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1323G>A	1.37:g.86590696C>T		Somatic	0	71	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.V441	ENST00000370571.2	37	c.1323	CCDS41353.1	1																																																																																			-	NULL		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	protein_coding	OTTHUMT00000029335.4	C	NM_152890	-		86590696	-1	no_errors	ENST00000370571	ensembl	human	known	74_37	silent	SNP	0.992	T	T	86590696	C	T	86590696	2	4	196	1	0	0	0	0	0	0	0	1	3685	581	21	2		2	COL24A1	1	86590696	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	86590696	162659925	111	13383	208	2									
CLCA1	1179	genome.wustl.edu	37	chr1	86952285	86952285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgagctggggtcctgggTtgggatggtgacatttgaca	17	5	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86952285T>C	ENST00000234701.3	+	8	1382	c.1031T>C	c.(1030-1032)gTt>gCt	p.V344A	CLCA1_ENST00000394711.1_Missense_Mutation_p.V344A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	344	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGTCCTGGGTTGGGATGGTG	0.478																																																	0								ENSG00000016490						135	125	128					1																	86952285		2203	4300	6503	CLCA1	SO:0001583	missense	0			-	HGNC		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1031T>C	1.37:g.86952285T>C	ENSP00000234701:p.Val344Ala	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	48	34.25	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP							pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V344A	ENST00000234701.3	37	c.1031	CCDS709.1	1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910998	0.52439	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.17528	2.27;2.27	5.5	3.15	0.36227	von Willebrand factor, type A (3);	0.071742	0.53938	N	0.000046	T	0.13243	0.0321	M	0.71036	2.16	0.30794	N	0.740638	B;B	0.29481	0.245;0.102	B;B	0.41619	0.361;0.361	T	0.06716	-1.0811	10	0.56958	D	0.05	-18.8142	8.936	0.35700	0.0:0.2185:0.0:0.7815	.	344;107	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	A	344;344;57	ENSP00000234701:V344A;ENSP00000378200:V344A	ENSP00000234701:V344A	V	+	2	0	CLCA1	86724873	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	1.496000	0.35638	0.925000	0.37094	0.533000	0.62120	GTT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	protein_coding	OTTHUMT00000028277.1	T	NM_001285	-		86952285	1	no_errors	ENST00000234701	ensembl	human	known	74_37	missense	SNP	1.000	C	C	86952285	T	C	86952285	3	2	196	1	0	0	0	0	1	0	0	0	3459	1725	60	5	1057	5	CLCA1	1	86952285	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	361589	86952285	162298336	112	13384											
PKN2	5586	genome.wustl.edu	37	chr1	89271279	89271279	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatcattctggcacctTcagccctcaagctcctgtgc	7	14	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:89271279T>A	ENST00000370521.3	+	11	1960	c.1601T>A	c.(1600-1602)tTc>tAc	p.F534Y	PKN2_ENST00000370505.3_Missense_Mutation_p.F377Y|PKN2_ENST00000316005.7_Missense_Mutation_p.F534Y|PKN2_ENST00000544045.1_Missense_Mutation_p.F208Y|PKN2_ENST00000370513.5_Missense_Mutation_p.F486Y	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	534					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTGGCACCTTCAGCCCTCAA	0.453																																																	0								ENSG00000065243						69	68	68					1																	89271279		1960	4157	6117	PKN2	SO:0001583	missense	0			-	HGNC	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1601T>A	1.37:g.89271279T>A	ENSP00000359552:p.Phe534Tyr	Somatic	0	56	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	40	39.39	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.F534Y	ENST00000370521.3	37	c.1601	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741755	0.30865	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	6.02	6.02	0.97574	.	0.000000	0.47455	U	0.000226	T	0.11239	0.0274	N	0.25286	0.73	0.47183	D	0.999348	B;B;B;B	0.17465	0.005;0.001;0.012;0.022	B;B;B;B	0.14578	0.005;0.005;0.007;0.011	T	0.13495	-1.0507	10	0.15952	T	0.53	.	11.5919	0.50951	0.133:0.0:0.0:0.867	.	518;486;534;534	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	Y	534;534;377;486;208	ENSP00000359552:F534Y;ENSP00000317851:F534Y;ENSP00000359536:F377Y;ENSP00000359544:F486Y;ENSP00000439643:F208Y	ENSP00000317851:F534Y	F	+	2	0	PKN2	89043867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.473000	0.60196	2.306000	0.77630	0.482000	0.46254	TTC	-	NULL		0.453	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	protein_coding	OTTHUMT00000027828.3	T	NM_006256	-		89271279	1	no_errors	ENST00000370521	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89271279	T	A	89271279	3	1	196	1	0	0	0	0	1	0	0	0	11982	1783	62	5	1643	5	PKN2	1	89271279	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2318994	89271279	159979342	113	13385											
GBP2	2634	genome.wustl.edu	37	chr1	89585888	89585888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtccatggcctgctggttGatggttcccatgctattgta	12	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:89585888G>A	ENST00000370466.3	-	4	670	c.402C>T	c.(400-402)atC>atT	p.I134I	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	134	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCTGCTGGTTGATGGTTCCCA	0.453																																																	0								ENSG00000162645						219	195	204					1																	89585888		2203	4300	6503	GBP2	SO:0001819	synonymous_variant	0			-	HGNC	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.402C>T	1.37:g.89585888G>A		Somatic	0	105	0		0.52429534266604	193	7.21	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	115	15.44	Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.I134	ENST00000370466.3	37	c.402	CCDS719.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.453	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	protein_coding	OTTHUMT00000029406.2	G	NM_004120	-		89585888	-1	no_errors	ENST00000370466	ensembl	human	known	74_37	silent	SNP	1.000	A	A	89585888	G	A	89585888	2	1	196	1	0	0	0	0	0	0	0	1	6276	1280	45	2		2	GBP2	1	89585888	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	314609	89585888	159664733	114	13386											
LRRC8D	55144	genome.wustl.edu	37	chr1	90400617	90400617	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctctaatttacaggaactgGatttaaagtccaataacatt	5	7	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:90400617G>C	ENST00000337338.5	+	3	2397	c.1990G>C	c.(1990-1992)Gat>Cat	p.D664H	LRRC8D_ENST00000394593.3_Missense_Mutation_p.D664H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	664					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACAGGAACTGGATTTAAAGTC	0.368																																																	0								ENSG00000171492						65	66	66					1																	90400617		2203	4300	6503	LRRC8D	SO:0001583	missense	0			-	HGNC	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1990G>C	1.37:g.90400617G>C	ENSP00000338887:p.Asp664His	Somatic	0	79	0		0.52429534266604	22	12	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	35	47.76	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D664H	ENST00000337338.5	37	c.1990	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568740	0.65765	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.61392	0.11;0.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62987	-0.6737	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	664	Q7L1W4	LRC8D_HUMAN	H	664	ENSP00000338887:D664H;ENSP00000378093:D664H	.	D	+	1	0	LRRC8D	90173205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GAT	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.368	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	protein_coding	OTTHUMT00000029203.2	G	NM_018103	-		90400617	1	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90400617	G	C	90400617	3	2	196	1	0	0	0	0	1	0	0	0	9026	1174	41	4	1992	4	LRRC8D	1	90400617	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	814729	90400617	158850004	115	13387											
ZNF644	84146	genome.wustl.edu	37	chr1	91406145	91406145	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggggatcccagtttgtatCattttctgacctaaatccat	7	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:91406145C>A	ENST00000370440.1	-	3	983	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D256Y|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	256					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAGTTTGTATCATTTTCTGAC	0.373																																																	0								ENSG00000122482						130	130	130					1																	91406145		2202	4300	6502	ZNF644	SO:0001583	missense	0			-	HGNC	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.766G>T	1.37:g.91406145C>A	ENSP00000359469:p.Asp256Tyr	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D256Y	ENST00000370440.1	37	c.766	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118122	0.37339	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00637	6.05;6.05	6.03	5.11	0.69529	.	0.258864	0.44097	D	0.000499	T	0.00412	0.0013	N	0.24115	0.695	0.42653	D	0.993454	P	0.36789	0.57	B	0.40101	0.319	T	0.76801	-0.2825	10	0.87932	D	0	-9.3077	15.6024	0.76634	0.0:0.9337:0.0:0.0663	.	256	Q9H582	ZN644_HUMAN	Y	256	ENSP00000359469:D256Y;ENSP00000337008:D256Y	ENSP00000337008:D256Y	D	-	1	0	ZNF644	91178733	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.485000	0.66850	1.534000	0.49203	0.655000	0.94253	GAT	-	NULL		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	protein_coding	OTTHUMT00000027846.2	C	NM_032186	-		91406145	-1	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91406145	C	A	91406145	3	1	196	1	0	0	0	0	1	0	0	0	18067	826	29	3	3233	3	ZNF644	1	91406145	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1005528	91406145	157844476	116	13388											
TGFBR3	7049	genome.wustl.edu	37	chr1	92224237	92224237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacaccagggggtgtgggGagttgagcaggaacacaaca	16	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:92224237G>A	ENST00000525962.1	-	3	378	c.317C>T	c.(316-318)tCc>tTc	p.S106F	TGFBR3_ENST00000370399.2_Missense_Mutation_p.S106F|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Missense_Mutation_p.S106F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	106					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGGTGTGGGGAGTTGAGCAG	0.512																																																	0								ENSG00000069702						152	138	142					1																	92224237		2203	4300	6503	TGFBR3	SO:0001583	missense	0			-	HGNC	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.317C>T	1.37:g.92224237G>A	ENSP00000436127:p.Ser106Phe	Somatic	0	90	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	78	31.90	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP							pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S106F	ENST00000525962.1	37	c.317	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888966	0.72524	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.5	4.57	0.56435	.	0.052412	0.85682	D	0.000000	T	0.59569	0.2203	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66720	-0.5852	10	0.72032	D	0.01	-17.2147	16.1698	0.81801	0.0:0.1336:0.8664:0.0	.	106;106	Q03167-2;Q03167	.;TGBR3_HUMAN	F	106	ENSP00000212355:S106F;ENSP00000359426:S106F;ENSP00000436127:S106F;ENSP00000432638:S106F	ENSP00000212355:S106F	S	-	2	0	TGFBR3	91996825	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.543000	0.82106	1.290000	0.44636	0.561000	0.74099	TCC	-	NULL		0.512	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	protein_coding	OTTHUMT00000382308.1	G	NM_003243	-		92224237	-1	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92224237	G	A	92224237	3	1	196	1	0	0	0	0	1	0	0	0	15830	1174	41	2	2294	2	TGFBR3	1	92224237	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	818092	92224237	157026384	117	13389											
BCAR3	8412	genome.wustl.edu	37	chr1	94033401	94033401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccacgtcttttctaacCttgtgatctggaagaaaggt	9	9	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:94033401C>T	ENST00000370244.1	-	12	2270	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K	BCAR3_ENST00000260502.6_Missense_Mutation_p.R661K|BCAR3_ENST00000370243.1_Missense_Mutation_p.R661K|BCAR3_ENST00000370247.3_Missense_Mutation_p.R570K|BCAR3_ENST00000539242.1_Missense_Mutation_p.R337K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	661	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		CTTTTCTAACCTTGTGATCTG	0.473																																																	0								ENSG00000137936						99	99	99					1																	94033401		2203	4300	6503	BCAR3	SO:0001583	missense	0			-	HGNC	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.1982G>A	1.37:g.94033401C>T	ENSP00000359264:p.Arg661Lys	Somatic	0	48	0		0.52429534266604	113	15.56	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP							pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.R661K	ENST00000370244.1	37	c.1982	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.336916	0.95758	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.39	5.39	0.77823	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.78314	0.991;0.984	T	0.70146	-0.4952	10	0.33141	T	0.24	-29.3404	19.1489	0.93479	0.0:1.0:0.0:0.0	.	661;570	O75815;Q5TEW3	BCAR3_HUMAN;.	K	570;661;661;661;337	ENSP00000359267:R570K;ENSP00000260502:R661K;ENSP00000359264:R661K;ENSP00000359263:R661K;ENSP00000441343:R337K	ENSP00000260502:R661K	R	-	2	0	BCAR3	93805989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.452000	0.80683	2.517000	0.84864	0.561000	0.74099	AGG	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.473	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	protein_coding	OTTHUMT00000028420.1	C		-		94033401	-1	no_errors	ENST00000260502	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94033401	C	T	94033401	3	4	196	1	0	0	0	0	1	0	0	0	1349	681	24	2	507	2	BCAR3	1	94033401	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1809164	94033401	155217220	118	13390											
ARHGAP29	9411	genome.wustl.edu	37	chr1	94650616	94650616	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgacaaacaaggagacActacaagaaaatgatagttt	8	6	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:94650616A>C	ENST00000260526.6	-	18	2103	c.1921T>G	c.(1921-1923)Tgt>Ggt	p.C641G	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	641					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ACAAGGAGACACTACAAGAAA	0.353																																																	0								ENSG00000137962						39	40	39					1																	94650616		2201	4299	6500	ARHGAP29	SO:0001630	splice_region_variant	0			-	HGNC		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1921-1T>G	1.37:g.94650616A>C		Somatic	0	54	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	30	33.33	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.C641G	ENST00000260526.6	37	c.1921	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079568	0.76528	.	.	ENSG00000137962	ENST00000260526	D	0.99876	-7.41	5.39	5.39	0.77823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.39687	N	0.001298	D	0.99843	0.9928	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96349	0.9257	10	0.72032	D	0.01	-14.2326	15.4205	0.75006	1.0:0.0:0.0:0.0	.	641;641	F8VWZ8;Q52LW3	.;RHG29_HUMAN	G	641	ENSP00000260526:C641G	ENSP00000260526:C641G	C	-	1	0	ARHGAP29	94423204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.361000	0.90098	2.032000	0.59987	0.455000	0.32223	TGT	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.353	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	protein_coding	OTTHUMT00000029376.2	A	NM_004815	-	Missense_Mutation	94650616	-1	no_errors	ENST00000260526	ensembl	human	known	74_37	missense	SNP	1.000	C	C	94650616	A	C	94650616	5	2	196	1	0	0	0	0	0	0	1	0	878	173	6	5	1888	5	ARHGAP29	1	94650616	Splice_Site	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	617215	94650616	154600005	119	13391											
ABCD3	5825	genome.wustl.edu	37	chr1	94939328	94939328	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtggtttgcagtggtatCattggtcgtagcaggaaaga	16	4	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:94939328C>T	ENST00000370214.4	+	5	366	c.342C>T	c.(340-342)atC>atT	p.I114I	ABCD3_ENST00000536817.1_Silent_p.I41I|ABCD3_ENST00000315713.5_Silent_p.I114I|ABCD3_ENST00000394233.2_Silent_p.I114I|ABCD3_ENST00000454898.2_Silent_p.I138I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	114	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GCAGTGGTATCATTGGTCGTA	0.363																																																	0								ENSG00000117528						133	124	127					1																	94939328		2203	4300	6503	ABCD3	SO:0001819	synonymous_variant	0			-	HGNC	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.342C>T	1.37:g.94939328C>T		Somatic	0	80	0		0.52429534266604	9	10	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	77	22.22	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP							pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.I138	ENST00000370214.4	37	c.414	CCDS749.1	1																																																																																			-	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter		0.363	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	protein_coding	OTTHUMT00000029597.1	C	NM_002858	-		94939328	1	no_errors	ENST00000454898	ensembl	human	known	74_37	silent	SNP	1.000	T	T	94939328	C	T	94939328	2	4	196	1	0	0	0	0	0	0	0	1	62	816	29	2		2	ABCD3	1	94939328	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	288712	94939328	154311293	120	13392											
DPYD	1806	genome.wustl.edu	37	chr1	97547995	97547995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcaattcaccaaatgttCcaaggtactgcagtgctttt	7	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:97547995C>T	ENST00000370192.3	-	22	2898	c.2798G>A	c.(2797-2799)gGa>gAa	p.G933E		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	933					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACCAAATGTTCCAAGGTACTG	0.338																																																	0								ENSG00000188641						215	200	205					1																	97547995		2203	4299	6502	DPYD	SO:0001583	missense	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2798G>A	1.37:g.97547995C>T	ENSP00000359211:p.Gly933Glu	Somatic	0	45	0		0.52429534266604	26	33.33	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP							pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.G933E	ENST00000370192.3	37	c.2798	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181437	0.57800	.	.	ENSG00000188641	ENST00000370192	D	0.90197	-2.63	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94440	0.7657	10	0.87932	D	0	-17.3306	20.0954	0.97838	0.0:1.0:0.0:0.0	.	933	Q12882	DPYD_HUMAN	E	933	ENSP00000359211:G933E	ENSP00000359211:G933E	G	-	2	0	DPYD	97320583	1.000000	0.71417	0.929000	0.37066	0.026000	0.11368	6.889000	0.75627	2.746000	0.94184	0.655000	0.94253	GGA	-	NULL		0.338	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	C	NM_000110	-		97547995	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	SNP	0.999	T	T	97547995	C	T	97547995	3	4	196	1	0	0	0	0	1	0	0	0	4747	855	30	2	287	2	DPYD	1	97547995	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2608667	97547995	151702626	121	13393											
DPYD	1806	genome.wustl.edu	37	chr1	98165067	98165067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgggggaggcagcgaagGatttctgatctgtgggatac	16	6	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:98165067G>A	ENST00000370192.3	-	6	620	c.520C>T	c.(520-522)Cct>Tct	p.P174S	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	174					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCAGCGAAGGATTTCTGATC	0.403																																																	0								ENSG00000188641						141	143	142					1																	98165067		2203	4300	6503	DPYD	SO:0001583	missense	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.520C>T	1.37:g.98165067G>A	ENSP00000359211:p.Pro174Ser	Somatic	0	76	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	68	32.00	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP							pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.P174S	ENST00000370192.3	37	c.520	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562855	0.86335	.	.	ENSG00000188641	ENST00000370192	D	0.93366	-3.21	5.5	5.5	0.81552	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.87180	2.865	0.80722	D	1	D	0.62365	0.991	P	0.54026	0.74	D	0.96203	0.9147	10	0.87932	D	0	-8.0445	19.3869	0.94560	0.0:0.0:1.0:0.0	.	174	Q12882	DPYD_HUMAN	S	174	ENSP00000359211:P174S	ENSP00000359211:P174S	P	-	1	0	DPYD	97937655	1.000000	0.71417	0.979000	0.43373	0.876000	0.50452	9.431000	0.97494	2.591000	0.87537	0.585000	0.79938	CCT	-	superfamily_Helical_ferredxn		0.403	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	G	NM_000110	-		98165067	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98165067	G	A	98165067	3	1	196	1	0	0	0	0	1	0	0	0	4747	1174	41	2	2629	2	DPYD	1	98165067	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	617072	98165067	151085554	122	13394											
VCAM1	7412	genome.wustl.edu	37	chr1	101196794	101196794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgagatgagtggtggcctCgtgaatgggagctctgtcac	15	8	2	3	rs149304647		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:101196794C>T	ENST00000294728.2	+	6	1346	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	VCAM1_ENST00000370119.4_Silent_p.L353L|VCAM1_ENST00000347652.2_Silent_p.L323L|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	415	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)			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)	GTGGTGGCCTCGTGAATGGGA	0.453													C|||	1	0.000199681	0	0	5008	,	,		18488	0		0.001	False		,,,				2504	0																0								ENSG00000162692	C	,,	0,4406		0,0,2203	63	64	64		1245,1059,969	-11	0	1	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	415/740,353/678,323/648	101196794	2,13004	2203	4300	6503	VCAM1	SO:0001819	synonymous_variant	0			-	HGNC	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.1245C>T	1.37:g.101196794C>T		Somatic	0	50	0		0.52429534266604	53	49.52	52	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP							pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.L415	ENST00000294728.2	37	c.1245	CCDS773.1	1																																																																																			-	NULL		0.453	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	protein_coding	OTTHUMT00000030213.1	C	NM_001078	rs149304647		101196794	1	no_errors	ENST00000294728	ensembl	human	known	74_37	silent	SNP	0.000	T	T	101196794	C	T	101196794	2	4	196	1	0	0	0	0	0	0	0	1	17144	871	31	1		1	VCAM1	1	101196794	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3031727	101196794	148053827	123	13395											
PRMT6	55170	genome.wustl.edu	37	chr1	107600229	107600229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccaggtgaccttccctGgaggggagtcggagaaaccc	15	11	0	2	rs367981568		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:107600229G>A	ENST00000370078.1	+	1	929	c.892G>A	c.(892-894)Gga>Aga	p.G298R	PRMT6_ENST00000361318.5_Missense_Mutation_p.G239R			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	298	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GACCTTCCCTGGAGGGGAGTC	0.647																																																	0								ENSG00000198890						35	40	39					1																	107600229		1960	4164	6124	PRMT6	SO:0001583	missense	0			-	HGNC	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.892G>A	1.37:g.107600229G>A	ENSP00000359095:p.Gly298Arg	Somatic	0	36	0		0.52429534266604	13	23.53	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP							pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.G298R	ENST00000370078.1	37	c.892	CCDS41360.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.343050|5.343050	0.95783|0.95783	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000361318;ENST00000370078|ENST00000540389	T;T|.	0.22945|.	1.93;1.93|.	5.51|5.51	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|.	0.52451|.	0.1735|.	L|L	0.43923|0.43923	1.385|1.385	0.41019|0.41019	D|D	0.985066|0.985066	B|.	0.06786|.	0.001|.	B|.	0.14023|.	0.01|.	T|.	0.56390|.	-0.7987|.	9|.	0.51188|0.59425	T|D	0.08|0.04	-25.9454|-25.9454	13.5083|13.5083	0.61497|0.61497	0.0:0.1578:0.8422:0.0|0.0:0.1578:0.8422:0.0	.|.	298|.	Q96LA8|.	ANM6_HUMAN|.	R|X	239;298|191	ENSP00000355145:G239R;ENSP00000359095:G298R|.	ENSP00000355145:G239R|ENSP00000440829:W191X	G|W	+|+	1|2	0|0	PRMT6|PRMT6	107401752|107401752	0.999000|0.999000	0.42202|0.42202	0.978000|0.978000	0.43139|0.43139	0.973000|0.973000	0.67179|0.67179	3.006000|3.006000	0.49529|0.49529	2.584000|2.584000	0.87258|0.87258	0.442000|0.442000	0.29010|0.29010	GGA|TGG	-	pfam_Arg_MeTrfase		0.647	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	protein_coding	OTTHUMT00000030185.1	G	NM_018137	-		107600229	1	no_errors	ENST00000370078	ensembl	human	known	74_37	missense	SNP	0.853	A	A	107600229	G	A	107600229	3	1	196	1	0	0	0	0	1	0	0	0	12545	1349	47	2	894	2	PRMT6	1	107600229	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6403435	107600229	141650392	124	13396											
FNDC7	163479	genome.wustl.edu	37	chr1	109261501	109261501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatatggcaattgcattctCcgtgtccattatgcgagcca	8	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109261501C>T	ENST00000370017.3	+	4	705	c.428C>T	c.(427-429)tCc>tTc	p.S143F	FNDC7_ENST00000271311.2_Missense_Mutation_p.S144F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	143	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ATTGCATTCTCCGTGTCCATT	0.433																																																	0								ENSG00000143107						82	71	74					1																	109261501		692	1591	2283	FNDC7	SO:0001583	missense	0			-	HGNC		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.428C>T	1.37:g.109261501C>T	ENSP00000359034:p.Ser143Phe	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S144F	ENST00000370017.3	37	c.431	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995793	0.54147	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.58652	0.32;0.32	5.69	5.69	0.88448	.	0.101621	0.64402	D	0.000002	T	0.41465	0.1160	L	0.56769	1.78	0.48185	D	0.999609	B	0.25351	0.124	B	0.28465	0.09	T	0.31530	-0.9940	10	0.27785	T	0.31	-19.9927	14.0259	0.64586	0.0:0.9278:0.0:0.0722	.	143	E9PAZ5	.	F	143;144	ENSP00000359034:S143F;ENSP00000271311:S144F	ENSP00000271311:S144F	S	+	2	0	FNDC7	109063024	1.000000	0.71417	0.982000	0.44146	0.755000	0.42902	4.904000	0.63279	2.684000	0.91462	0.655000	0.94253	TCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	protein_coding	OTTHUMT00000030589.4	C	NM_173532	-		109261501	1	no_errors	ENST00000271311	ensembl	human	known	74_37	missense	SNP	0.998	T	T	109261501	C	T	109261501	3	4	196	1	0	0	0	0	1	0	0	0	5975	855	30	2	442	2	FNDC7	1	109261501	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1661272	109261501	139989120	125	13397											
CLCC1	23155	genome.wustl.edu	37	chr1	109486218	109486218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccactaaaaccacgatgCagagcagacaaagaagtacc	8	11	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109486218C>T	ENST00000369971.2	-	6	710	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	CLCC1_ENST00000415331.1_Missense_Mutation_p.C144Y|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.C194Y|CLCC1_ENST00000482889.1_5'UTR|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.C144Y|CLCC1_ENST00000369976.1_Missense_Mutation_p.C194Y|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000369969.2_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	194						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AACCACGATGCAGAGCAGACA	0.413																																																	0								ENSG00000121940						104	107	106					1																	109486218		2203	4300	6503	CLCC1	SO:0001583	missense	0			-	HGNC	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.581G>A	1.37:g.109486218C>T	ENSP00000358988:p.Cys194Tyr	Somatic	0	39	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP							pfam_Chloride_chnl_CLIC-like	p.C194Y	ENST00000369971.2	37	c.581	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860899	0.51482	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369976;ENST00000369970	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.26	5.26	0.73747	.	0.152660	0.64402	D	0.000010	T	0.66247	0.2770	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72040	-0.4410	10	0.87932	D	0	-14.3724	6.3616	0.21431	0.1365:0.6577:0.1318:0.0741	.	144;194	Q96S66-2;Q96S66	.;CLCC1_HUMAN	Y	194;194;144;194;144	ENSP00000349456:C194Y;ENSP00000358988:C194Y;ENSP00000411591:C144Y;ENSP00000358993:C194Y;ENSP00000358987:C144Y	ENSP00000349456:C194Y	C	-	2	0	CLCC1	109287741	0.957000	0.32711	0.982000	0.44146	0.748000	0.42578	2.213000	0.42844	2.616000	0.88540	0.591000	0.81541	TGC	-	pfam_Chloride_chnl_CLIC-like		0.413	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	protein_coding	OTTHUMT00000032405.1	C	NM_015127	-		109486218	-1	no_errors	ENST00000356970	ensembl	human	known	74_37	missense	SNP	0.780	T	T	109486218	C	T	109486218	3	4	196	1	0	0	0	0	1	0	0	0	3462	710	25	2	1098	2	CLCC1	1	109486218	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	224717	109486218	139764403	126	13398											
WDR47	22911	genome.wustl.edu	37	chr1	109560161	109560161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgtcaaatttttccAtacattctagaggctgaatg	6	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109560161A>G	ENST00000369962.3	-	3	443	c.221T>C	c.(220-222)aTg>aCg	p.M74T	WDR47_ENST00000369965.4_Missense_Mutation_p.M74T|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.M74T|WDR47_ENST00000357672.3_Intron			O94967	WDR47_HUMAN	WD repeat domain 47	74	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AAATTTTTCCATACATTCTAG	0.299																																																	0								ENSG00000085433						65	71	69					1																	109560161		2203	4300	6503	WDR47	SO:0001583	missense	0			-	HGNC	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.221T>C	1.37:g.109560161A>G	ENSP00000358979:p.Met74Thr	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M74T	ENST00000369962.3	37	c.221	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166146	0.57476	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000529074;ENST00000528747	T;T;T	0.55588	0.51;0.54;0.51	5.97	5.97	0.96955	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25647	0.755	0.80722	D	1	B;B;B	0.31290	0.213;0.213;0.318	B;B;B	0.29716	0.049;0.049;0.106	T	0.32798	-0.9893	10	0.87932	D	0	-23.1285	16.4473	0.83942	1.0:0.0:0.0:0.0	.	74;74;74	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	T	74;74;74;74;1;74	ENSP00000383599:M74T;ENSP00000358979:M74T;ENSP00000358982:M74T	ENSP00000358979:M74T	M	-	2	0	WDR47	109361684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.936000	0.92931	2.281000	0.76405	0.533000	0.62120	ATG	-	smart_CTLH_C,pfscan_CTLH_C		0.299	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	protein_coding	OTTHUMT00000032414.2	A	NM_014969	-		109560161	-1	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	SNP	1.000	G	G	109560161	A	G	109560161	3	3	196	1	0	0	0	0	1	0	0	0	17307	217	8	5	2614	5	WDR47	1	109560161	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	73943	109560161	139690460	127	13399											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110032568	110032568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtcccgggcctcctccGagagtgaattggatgatgaa	13	11	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110032568G>A	ENST00000369870.3	+	8	1069	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	352										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCTCCTCCGAGAGTGAATT	0.627																																																	0								ENSG00000162650						86	95	92					1																	110032568		2203	4300	6503	ATXN7L2	SO:0001583	missense	0			-	HGNC	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1054G>A	1.37:g.110032568G>A	ENSP00000358886:p.Glu352Lys	Somatic	0	41	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	27	54.24		Missense_Mutation	SNP							pfam_SCA7_dom	p.E352K	ENST00000369870.3	37	c.1054	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156513	0.57259	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.33216	1.42	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000004	T	0.19446	0.0467	L	0.55481	1.735	0.80722	D	1	P	0.52842	0.956	B	0.38296	0.27	T	0.02966	-1.1088	10	0.44086	T	0.13	-19.6781	17.0446	0.86499	0.0:0.0:1.0:0.0	.	352	Q5T6C5	AT7L2_HUMAN	K	352	ENSP00000358886:E352K	ENSP00000358886:E352K	E	+	1	0	ATXN7L2	109834091	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.914000	0.69964	2.768000	0.95171	0.561000	0.74099	GAG	-	NULL		0.627	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	protein_coding	OTTHUMT00000030331.1	G	NM_153340	-		110032568	1	no_errors	ENST00000369870	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110032568	G	A	110032568	3	1	196	1	0	0	0	0	1	0	0	0	1217	1059	37	1	1084	1	ATXN7L2	1	110032568	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	472407	110032568	139218053	128	13400											
SLC6A17	388662	genome.wustl.edu	37	chr1	110709708	110709708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagcagaaggcggtggagGaggagctggatgcagaggac	20	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110709708G>A	ENST00000331565.4	+	2	642	c.157G>A	c.(157-159)Gag>Aag	p.E53K	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	53					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCGGTGGAGGAGGAGCTGGA	0.617																																																	0								ENSG00000197106						68	55	60					1																	110709708		2203	4300	6503	SLC6A17	SO:0001583	missense	0			-	HGNC		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.157G>A	1.37:g.110709708G>A	ENSP00000330199:p.Glu53Lys	Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.E53K	ENST00000331565.4	37	c.157	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432420	0.25813	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74002	-0.8	4.49	3.57	0.40892	.	0.218742	0.37809	N	0.001934	T	0.37128	0.0992	L	0.29908	0.895	0.29749	N	0.836526	B	0.12013	0.005	B	0.09377	0.004	T	0.12760	-1.0535	10	0.10636	T	0.68	.	10.6099	0.45415	0.09:0.0:0.91:0.0	.	53	Q9H1V8	S6A17_HUMAN	K	53	ENSP00000330199:E53K	ENSP00000330199:E53K	E	+	1	0	SLC6A17	110511231	1.000000	0.71417	0.951000	0.38953	0.247000	0.25773	6.985000	0.76193	1.087000	0.41251	0.563000	0.77884	GAG	-	NULL		0.617	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	protein_coding	OTTHUMT00000032550.2	G	XM_371280	-		110709708	1	no_errors	ENST00000331565	ensembl	human	known	74_37	missense	SNP	0.997	A	A	110709708	G	A	110709708	3	1	196	1	0	0	0	0	1	0	0	0	14688	1175	41	2	159	2	SLC6A17	1	110709708	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	677140	110709708	138540913	129	13401											
SLC16A4	9122	genome.wustl.edu	37	chr1	110918101	110918101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctataggtggtccagaaaGgacagccatcccagcaaaga	11	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110918101G>A	ENST00000369779.4	-	8	1564	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	SLC16A4_ENST00000369781.4_Missense_Mutation_p.L271F|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L329F|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L391F|RP5-1074L1.4_ENST00000609909.1_RNA|SLC16A4_ENST00000541986.1_Missense_Mutation_p.L377F	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	439					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GGTCCAGAAAGGACAGCCATC	0.398																																																	0								ENSG00000168679						90	90	90					1																	110918101		2203	4300	6503	SLC16A4	SO:0001583	missense	0			-	HGNC	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1315C>T	1.37:g.110918101G>A	ENSP00000358794:p.Leu439Phe	Somatic	0	91	0		0.52429534266604	10	41.18	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	95	20.83	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L439F	ENST00000369779.4	37	c.1315	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516945	0.44763	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781;ENST00000437429;ENST00000541986;ENST00000467986	T;T;T;T;T;T	0.80566	-1.39;-1.39;0.21;-1.39;-1.39;-1.39	5.91	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.186003	0.48767	D	0.000178	D	0.84388	0.5461	M	0.70595	2.14	0.36474	D	0.867416	D;D;D;D;D;D	0.89917	0.999;1.0;0.997;0.995;0.984;0.999	D;D;D;D;P;D	0.78314	0.974;0.991;0.94;0.955;0.865;0.985	D	0.85794	0.1369	10	0.66056	D	0.02	.	8.8276	0.35065	0.0:0.1394:0.6068:0.2539	.	329;377;391;439;271;439	E7EPY8;B4DJ67;G3V175;Q53FH9;Q8WU09;O15374	.;.;.;.;.;MOT5_HUMAN	F	439;391;271;329;377;206	ENSP00000358794:L439F;ENSP00000432495:L391F;ENSP00000358796:L271F;ENSP00000394790:L329F;ENSP00000446087:L377F;ENSP00000435768:L206F	ENSP00000358794:L439F	L	-	1	0	SLC16A4	110719624	0.998000	0.40836	0.992000	0.48379	0.993000	0.82548	2.147000	0.42226	2.798000	0.96311	0.655000	0.94253	CTT	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	protein_coding	OTTHUMT00000031115.3	G	NM_004696	-		110918101	-1	no_errors	ENST00000369779	ensembl	human	known	74_37	missense	SNP	0.868	A	A	110918101	G	A	110918101	3	1	196	1	0	0	0	0	1	0	0	0	14418	1000	35	2	156	2	SLC16A4	1	110918101	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	208393	110918101	138332520	130	13402											
CHI3L2	1117	genome.wustl.edu	37	chr1	111778738	111778738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagccctctgagcaaggGgtggcaggacagagggccaa	15	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:111778738G>A	ENST00000445067.2	+	9	1469	c.698G>A	c.(697-699)gGg>gAg	p.G233E	CHI3L2_ENST00000466741.1_Missense_Mutation_p.G154E|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G233E|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G154E|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G223E			Q15782	CH3L2_HUMAN	chitinase 3-like 2	233					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGCAAGGGGTGGCAGGAC	0.577																																																	0								ENSG00000064886						77	78	77					1																	111778738		2203	4300	6503	CHI3L2	SO:0001583	missense	0			-	HGNC	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.698G>A	1.37:g.111778738G>A	ENSP00000437082:p.Gly233Glu	Somatic	0	49	0		0.52429534266604	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	47	36.00	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP							pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.G233E	ENST00000445067.2	37	c.698	CCDS30802.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.715241|2.715241	0.48622|0.48622	.|.	.|.	ENSG00000064886|ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000524472;ENST00000497220|ENST00000533831	T;T;T;T;T;T;T;T|.	0.33216|.	3.46;3.46;3.46;3.46;3.46;1.42;3.46;3.46|.	3.02|3.02	3.02|3.02	0.34903|0.34903	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|0.000000	0.37955|0.37955	N|N	0.001866|0.001866	T|T	0.60932|0.60932	0.2307|0.2307	M|M	0.77313|0.77313	2.365|2.365	0.38344|0.38344	D|D	0.944153|0.944153	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.61367|0.61367	-0.7077|-0.7077	10|7	0.28530|0.25751	T|T	0.3|0.34	-7.7559|-7.7559	11.8355|11.8355	0.52321|0.52321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	154;223;233|.	B4DPR7;A6NNY3;Q15782|.	.;.;CH3L2_HUMAN|.	E|S	233;223;233;214;154;154;135;154;87|110	ENSP00000437082:G233E;ENSP00000358759:G223E;ENSP00000358763:G233E;ENSP00000437086:G154E;ENSP00000436272:G154E;ENSP00000431978:G135E;ENSP00000432049:G154E;ENSP00000435250:G87E|.	ENSP00000358759:G223E|ENSP00000433176:G110S	G|G	+|+	2|1	0|0	CHI3L2|CHI3L2	111580261|111580261	0.962000|0.962000	0.33011|0.33011	0.851000|0.851000	0.33527|0.33527	0.412000|0.412000	0.31113|0.31113	4.465000|4.465000	0.60141|0.60141	1.649000|1.649000	0.50652|0.50652	0.561000|0.561000	0.74099|0.74099	GGG|GGT	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.577	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	protein_coding	OTTHUMT00000033669.4	G	NM_004000	-		111778738	1	no_errors	ENST00000369748	ensembl	human	known	74_37	missense	SNP	0.994	A	A	111778738	G	A	111778738	3	1	196	1	0	0	0	0	1	0	0	0	3343	1232	43	2	724	2	CHI3L2	1	111778738	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	860637	111778738	137471883	131	13403											
ADORA3	140	genome.wustl.edu	37	chr1	112045802	112045802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcaccccaacagcaaTgtcagccagggctagagaga	11	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:112045802T>C	ENST00000241356.4	-	1	580	c.175A>G	c.(175-177)Att>Gtt	p.I59V	ADORA3_ENST00000369716.4_Missense_Mutation_p.I59V|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	59					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCAACAGCAATGTCAGCCAGG	0.527																																																	0								ENSG00000121933						98	74	82					1																	112045802		2203	4300	6503	ADORA3	SO:0001583	missense	0			-	HGNC	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.175A>G	1.37:g.112045802T>C	ENSP00000241356:p.Ile59Val	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	52	28.77	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.I59V	ENST00000241356.4	37	c.175	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224890	0.39300	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.40225	1.04;1.04	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.139502	0.33346	N	0.005009	T	0.41073	0.1143	L	0.48986	1.54	0.37049	D	0.897511	D;B	0.58620	0.983;0.062	D;B	0.63033	0.91;0.025	T	0.35699	-0.9778	10	0.28530	T	0.3	-11.0837	10.5917	0.45314	0.1438:0.0:0.0:0.8562	.	59;59	P33765;P33765-2	AA3R_HUMAN;.	V	59	ENSP00000358730:I59V;ENSP00000241356:I59V	ENSP00000241356:I59V	I	-	1	0	ADORA3	111847325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.618000	0.61211	2.112000	0.64535	0.459000	0.35465	ATT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	protein_coding	OTTHUMT00000033065.1	T	NM_000677, NM_020683	-		112045802	-1	no_errors	ENST00000369716	ensembl	human	known	74_37	missense	SNP	1.000	C	C	112045802	T	C	112045802	3	2	196	1	0	0	0	0	1	0	0	0	329	1464	51	5	1503	5	ADORA3	1	112045802	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	267064	112045802	137204819	132	13404											
LRIG2	9860	genome.wustl.edu	37	chr1	113637279	113637279	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtggaaggtcttacattCcaagggcttgactccttaag	10	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:113637279C>T	ENST00000361127.5	+	6	903	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	235					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GTCTTACATTCCAAGGGCTTG	0.338																																																	0								ENSG00000198799						97	101	99					1																	113637279		2203	4300	6503	LRIG2	SO:0001819	synonymous_variant	0			-	HGNC	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.705C>T	1.37:g.113637279C>T		Somatic	0	119	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	89	17.59	Q9NSN2	Silent	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F235	ENST00000361127.5	37	c.705	CCDS30808.1	1																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.338	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	protein_coding	OTTHUMT00000033549.2	C	NM_014813	-		113637279	1	no_errors	ENST00000361127	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113637279	C	T	113637279	2	4	196	1	0	0	0	0	0	0	0	1	8947	854	30	2		2	LRIG2	1	113637279	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1591477	113637279	135613342	133	13405											
DCLRE1B	64858	genome.wustl.edu	37	chr1	114449769	114449769	+	Missense_Mutation	SNP	C	C	T													ctttgaaggatattttggaaCcatcctctacacaggtgggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114449769C>T	ENST00000369563.3	+	2	787	c.341C>T	c.(340-342)aCc>aTc	p.T114I	DCLRE1B_ENST00000466480.1_Intron|AP4B1_ENST00000369569.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000256658.4_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	114					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		TATTTTGGAACCATCCTCTAC	0.398								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000118655						137	128	131					1																	114449769		2203	4300	6503	DCLRE1B	SO:0001583	missense	0			-	HGNC	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.341C>T	1.37:g.114449769C>T	ENSP00000358576:p.Thr114Ile	Somatic	0	60	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67	Q9H9E5	Missense_Mutation	SNP							pfam_DRMBL	p.T114I	ENST00000369563.3	37	c.341	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920676	0.73213	.	.	ENSG00000118655	ENST00000369563	T	0.78246	-1.16	5.67	4.76	0.60689	Beta-lactamase-like (1);	0.048755	0.85682	D	0.000000	T	0.74222	0.3688	M	0.81802	2.56	0.49130	D	0.999753	P	0.49862	0.929	P	0.48304	0.573	T	0.75238	-0.3388	10	0.34782	T	0.22	-20.5233	11.5309	0.50610	0.0:0.8572:0.0:0.1428	.	114	Q9H816	DCR1B_HUMAN	I	114	ENSP00000358576:T114I	ENSP00000358576:T114I	T	+	2	0	DCLRE1B	114251292	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.941000	0.49011	1.398000	0.46701	0.561000	0.74099	ACC	-	NULL		0.398	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	protein_coding	OTTHUMT00000033020.2	C	NM_022836	-		114449769	1	no_errors	ENST00000369563	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114449769	C	T	114449769	3	4	196	1	0	0	0	0	1	0	0	0	4297	507	18	2	347	2	DCLRE1B	1	114449769	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	812490	114449769	134800852	134	13406	209	2									
DCLRE1B	64858	genome.wustl.edu	37	chr1	114449770	114449770	+	Silent	SNP	C	C	T													tttgaaggatattttggaacCatcctctacacaggtgggcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114449770C>T	ENST00000369563.3	+	2	788	c.342C>T	c.(340-342)acC>acT	p.T114T	DCLRE1B_ENST00000466480.1_Intron|AP4B1_ENST00000369569.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000256658.4_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	114					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		ATTTTGGAACCATCCTCTACA	0.398								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000118655						134	126	129					1																	114449770		2203	4300	6503	DCLRE1B	SO:0001819	synonymous_variant	0			-	HGNC	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.342C>T	1.37:g.114449770C>T		Somatic	0	58	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67	Q9H9E5	Silent	SNP							pfam_DRMBL	p.T114	ENST00000369563.3	37	c.342	CCDS866.1	1																																																																																			-	NULL		0.398	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	protein_coding	OTTHUMT00000033020.2	C	NM_022836	-		114449770	1	no_errors	ENST00000369563	ensembl	human	known	74_37	silent	SNP	1.000	T	T	114449770	C	T	114449770	2	4	196	1	0	0	0	0	0	0	0	1	4297	581	21	2		2	DCLRE1B	1	114449770	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	114449770	134800851	135	13407	209	2									
HIPK1	204851	genome.wustl.edu	37	chr1	114483816	114483816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccttgtttttgaaatgTtggagcagaacttatatgat	9	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114483816T>C	ENST00000369558.1	+	2	1043	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L	HIPK1_ENST00000426820.2_Silent_p.L271L|HIPK1_ENST00000369561.4_Silent_p.L271L|HIPK1_ENST00000369559.4_Silent_p.L271L|HIPK1_ENST00000369554.2_Silent_p.L271L|HIPK1_ENST00000369555.2_Silent_p.L271L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		TTTTGAAATGTTGGAGCAGAA	0.418																																																	0								ENSG00000163349						90	88	88					1																	114483816		2203	4300	6503	HIPK1	SO:0001819	synonymous_variant	0			-	HGNC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.811T>C	1.37:g.114483816T>C		Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	51.22	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L271	ENST00000369558.1	37	c.811	CCDS867.1	1																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.418	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	protein_coding	OTTHUMT00000033127.1	T	NM_198268	-		114483816	1	no_errors	ENST00000369558	ensembl	human	known	74_37	silent	SNP	1.000	C	C	114483816	T	C	114483816	2	2	196	1	0	0	0	0	0	0	0	1	7118	1722	60	5		5	HIPK1	1	114483816	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	34046	114483816	134766805	136	13408											
OLFML3	56944	genome.wustl.edu	37	chr1	114523969	114523969	+	Missense_Mutation	SNP	G	G	A													aggggctgatccccccctacGgcttgacagcagacacctac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114523969G>A	ENST00000320334.4	+	3	873	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	OLFML3_ENST00000369551.1_Missense_Mutation_p.G247S|OLFML3_ENST00000393300.2_Missense_Mutation_p.G247S|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	267	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)		CCCCCCCTACGGCTTGACAGC	0.552																																																	0								ENSG00000116774						74	67	69					1																	114523969		2203	4300	6503	OLFML3	SO:0001583	missense	0			-	HGNC	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.799G>A	1.37:g.114523969G>A	ENSP00000322273:p.Gly267Ser	Somatic	0	30	0		0.52429534266604	147	67.83	310	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP							pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G267S	ENST00000320334.4	37	c.799	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	G	3.729	-0.056029	0.07362	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.87887	-2.31;-2.31;-2.31	5.96	2.95	0.34219	Olfactomedin-like (3);	0.236088	0.51477	N	0.000086	T	0.34366	0.0895	N	0.02158	-0.66	0.23445	N	0.997666	P;B	0.43314	0.803;0.094	B;B	0.31290	0.127;0.015	T	0.61569	-0.7036	10	0.05351	T	0.99	.	8.3764	0.32445	0.1312:0.0:0.7426:0.1262	.	247;267	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	S	247;267;247	ENSP00000358564:G247S;ENSP00000322273:G267S;ENSP00000376977:G247S	ENSP00000322273:G267S	G	+	1	0	OLFML3	114325492	0.254000	0.23992	0.620000	0.29132	0.077000	0.17291	1.734000	0.38166	0.859000	0.35456	-0.793000	0.03317	GGC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.552	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	protein_coding	OTTHUMT00000033119.1	G	NM_020190	-		114523969	1	no_errors	ENST00000320334	ensembl	human	known	74_37	missense	SNP	0.271	A	A	114523969	G	A	114523969	3	1	196	1	0	0	0	0	1	0	0	0	10861	1116	39	1	809	1	OLFML3	1	114523969	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	40153	114523969	134726652	137	13409	210	2									
OLFML3	56944	genome.wustl.edu	37	chr1	114523970	114523970	+	Missense_Mutation	SNP	G	G	A													ggggctgatccccccctacgGcttgacagcagacacctaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114523970G>A	ENST00000320334.4	+	3	874	c.800G>A	c.(799-801)gGc>gAc	p.G267D	OLFML3_ENST00000369551.1_Missense_Mutation_p.G247D|OLFML3_ENST00000393300.2_Missense_Mutation_p.G247D|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	267	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)		CCCCCCTACGGCTTGACAGCA	0.557																																																	0								ENSG00000116774						75	67	70					1																	114523970		2203	4300	6503	OLFML3	SO:0001583	missense	0			-	HGNC	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.800G>A	1.37:g.114523970G>A	ENSP00000322273:p.Gly267Asp	Somatic	0	30	0		0.52429534266604	150	67.32	311	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP							pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G267D	ENST00000320334.4	37	c.800	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782393	0.31502	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88741	-2.42;-2.42;-2.42	5.96	4.03	0.46877	Olfactomedin-like (3);	0.236088	0.51477	D	0.000086	T	0.82139	0.4972	L	0.44542	1.39	0.24758	N	0.992945	P;B	0.51933	0.949;0.322	P;B	0.51516	0.672;0.176	T	0.76353	-0.2990	10	0.16896	T	0.51	.	16.3763	0.83401	0.0:0.2404:0.7596:0.0	.	247;267	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	D	247;267;247	ENSP00000358564:G247D;ENSP00000322273:G267D;ENSP00000376977:G247D	ENSP00000322273:G267D	G	+	2	0	OLFML3	114325493	0.255000	0.24002	0.789000	0.31954	0.114000	0.19823	1.557000	0.36299	0.798000	0.33994	0.655000	0.94253	GGC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.557	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	protein_coding	OTTHUMT00000033119.1	G	NM_020190	-		114523970	1	no_errors	ENST00000320334	ensembl	human	known	74_37	missense	SNP	0.278	A	A	114523970	G	A	114523970	3	1	196	1	0	0	0	0	1	0	0	0	10861	1203	42	2	810	2	OLFML3	1	114523970	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	114523970	134726651	138	13410	210	2									
AMPD1	270	genome.wustl.edu	37	chr1	115218600	115218600	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atttttccaaaatgtggaagGaaattcttggaacggaacac	9	6	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:115218600G>C	ENST00000520113.2	-	11	1527	c.1512C>G	c.(1510-1512)ttC>ttG	p.F504L	AMPD1_ENST00000353928.6_Missense_Mutation_p.F471L|AMPD1_ENST00000369538.3_Missense_Mutation_p.F500L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	504					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AATGTGGAAGGAAATTCTTGG	0.438																																																	0								ENSG00000116748						102	108	106					1																	115218600		2203	4300	6503	AMPD1	SO:0001583	missense	0			-	HGNC	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1512C>G	1.37:g.115218600G>C	ENSP00000430075:p.Phe504Leu	Somatic	0	98	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	96	17.24	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP							pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.F504L	ENST00000520113.2	37	c.1512	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	4.693	0.128842	0.08981	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.81908	-1.55;-1.55;-1.55	5.58	4.67	0.58626	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	N	0.00569	-1.365	0.58432	D	0.999997	D;B	0.76494	0.999;0.004	D;B	0.81914	0.995;0.01	T	0.66416	-0.5929	10	0.02654	T	1	-18.7227	8.8231	0.35039	0.2242:0.0:0.7758:0.0	.	500;471	Q5TF02;P23109	.;AMPD1_HUMAN	L	504;500;471	ENSP00000430075:F504L;ENSP00000358551:F500L;ENSP00000316520:F471L	ENSP00000316520:F471L	F	-	3	2	AMPD1	115020123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.708000	0.37899	1.355000	0.45865	0.561000	0.74099	TTC	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	protein_coding	OTTHUMT00000032860.4	G		-		115218600	-1	no_errors	ENST00000520113	ensembl	human	known	74_37	missense	SNP	1.000	C	C	115218600	G	C	115218600	3	2	196	1	0	0	0	0	1	0	0	0	585	1165	41	4	854	4	AMPD1	1	115218600	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	694630	115218600	134032021	139	13411											
PTGFRN	5738	genome.wustl.edu	37	chr1	117484465	117484465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaactttgactggagcTtctcatctttggggagcagc	11	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:117484465T>C	ENST00000393203.2	+	2	325	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	60	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGACTGGAGCTTCTCATCTTT	0.607																																																	0								ENSG00000134247						59	55	56					1																	117484465		2203	4300	6503	PTGFRN	SO:0001583	missense	0			-	HGNC	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.178T>C	1.37:g.117484465T>C	ENSP00000376899:p.Phe60Leu	Somatic	0	41	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	36.73	Q5VVU9|Q8N2K6	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.F60L	ENST00000393203.2	37	c.178	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408028	0.62399	.	.	ENSG00000134247	ENST00000393203	T	0.64438	-0.1	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208408	0.45606	D	0.000350	T	0.38054	0.1026	L	0.27053	0.805	0.43617	D	0.995991	P	0.45531	0.86	P	0.49799	0.622	T	0.46512	-0.9186	10	0.02654	T	1	-38.342	13.7821	0.63089	0.0:0.0:0.0:1.0	.	60	Q9P2B2	FPRP_HUMAN	L	60	ENSP00000376899:F60L	ENSP00000376899:F60L	F	+	1	0	PTGFRN	117285988	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.399000	0.44495	2.206000	0.71126	0.383000	0.25322	TTC	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.607	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	protein_coding	OTTHUMT00000033271.1	T	NM_020440	-		117484465	1	no_errors	ENST00000393203	ensembl	human	known	74_37	missense	SNP	1.000	C	C	117484465	T	C	117484465	3	2	196	1	0	0	0	0	1	0	0	0	12756	1609	56	5	184	5	PTGFRN	1	117484465	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2265865	117484465	131766156	140	13412											
CD101	9398	genome.wustl.edu	37	chr1	117556218	117556218	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgactacaaagagagAgcaagtcaaggagagctcca	11	7	1	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:117556218A>T	ENST00000256652.4	+	4	1090	c.1032A>T	c.(1030-1032)agA>agT	p.R344S	CD101_ENST00000369470.1_Missense_Mutation_p.R344S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	344	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAAGAGAGAGCAAGTCAAG	0.502																																																	0								ENSG00000134256						105	104	104					1																	117556218		2203	4300	6503	CD101	SO:0001583	missense	0			-	HGNC	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1032A>T	1.37:g.117556218A>T	ENSP00000256652:p.Arg344Ser	Somatic	0	35	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	Q15856	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R344S	ENST00000256652.4	37	c.1032	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126942	0.37533	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.02552	4.25;4.25	5.7	2.17	0.27698	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088111	0.49305	D	0.000145	T	0.06280	0.0162	M	0.85630	2.765	0.29936	N	0.821513	D	0.71674	0.998	D	0.71870	0.975	T	0.05068	-1.0908	10	0.87932	D	0	-10.082	6.7672	0.23573	0.7366:0.0:0.2634:0.0	.	344	Q93033	IGSF2_HUMAN	S	344	ENSP00000256652:R344S;ENSP00000358482:R344S	ENSP00000256652:R344S	R	+	3	2	CD101	117357741	1.000000	0.71417	0.773000	0.31616	0.009000	0.06853	1.790000	0.38734	0.439000	0.26476	-0.912000	0.02778	AGA	-	smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like_dom		0.502	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	protein_coding	OTTHUMT00000033274.1	A	NM_004258	-		117556218	1	no_errors	ENST00000256652	ensembl	human	known	74_37	missense	SNP	0.754	T	T	117556218	A	T	117556218	3	4	196	1	0	0	0	0	1	0	0	0	2964	301	11	5	1046	5	CD101	1	117556218	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	71753	117556218	131694403	141	13413											
HSD3B1	3283	genome.wustl.edu	37	chr1	120050144	120050144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagcaggagggtttctGggacagaggatcatccgcct	15	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:120050144G>A	ENST00000369413.3	+	2	190	c.45G>A	c.(43-45)ctG>ctA	p.L15L	HSD3B1_ENST00000235547.6_Silent_p.L17L|HSD3B1_ENST00000528909.1_Silent_p.L15L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	15					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)	GAGGGTTTCTGGGACAGAGGA	0.537																																																	0								ENSG00000203857						108	98	101					1																	120050144		2203	4300	6503	HSD3B1	SO:0001819	synonymous_variant	0			-	HGNC	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.45G>A	1.37:g.120050144G>A		Somatic	0	104	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	109	20.44	A8K691|Q14545|Q8IV65	Silent	SNP							pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.L17	ENST00000369413.3	37	c.51	CCDS903.1	1																																																																																			-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA		0.537	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	protein_coding	OTTHUMT00000034993.3	G	NM_000862	-		120050144	1	no_errors	ENST00000235547	ensembl	human	known	74_37	silent	SNP	1.000	A	A	120050144	G	A	120050144	2	1	196	1	0	0	0	0	0	0	0	1	7392	1335	47	2		2	HSD3B1	1	120050144	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2493926	120050144	129200477	142	13414											
NOTCH2	4853	genome.wustl.edu	37	chr1	120510232	120510232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcctgcatgctcacaaGgattgctattggctgaaaga	9	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:120510232G>A	ENST00000256646.2	-	8	1496	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	426	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		ATGCTCACAAGGATTGCTATT	0.448			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0								ENSG00000134250						124	99	107					1																	120510232		2203	4300	6503	NOTCH2	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	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.1277C>T	1.37:g.120510232G>A	ENSP00000256646:p.Pro426Leu	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	28	37.78	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P426L	ENST00000256646.2	37	c.1277	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080476	0.94050	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.88586	-2.4	5.86	5.86	0.93980	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.35407	U	0.003239	D	0.94394	0.8197	M	0.86343	2.81	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	0.92054	0.5651	10	0.26408	T	0.33	.	19.1719	0.93581	0.0:0.0:1.0:0.0	.	387;426;426	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	L	426;387	ENSP00000256646:P426L	ENSP00000256646:P426L	P	-	2	0	NOTCH2	120311755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.774000	0.95407	0.650000	0.86243	CCT	-	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.448	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	protein_coding	OTTHUMT00000033679.1	G	NM_024408	-		120510232	-1	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120510232	G	A	120510232	3	1	196	1	0	0	0	0	1	0	0	0	10550	1000	35	2	6246	2	NOTCH2	1	120510232	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	460088	120510232	128740389	143	13415											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144882558	144882558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttcccaggggaaccaAccagttctgtgtttattctt	10	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:144882558A>G	ENST00000369354.3	-	24	3650	c.3461T>C	c.(3460-3462)gTt>gCt	p.V1154A	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V1291A|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V1291A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V1154A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1154					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGGAACCAACCAGTTCTGT	0.512			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								ENSG00000178104						150	143	146					1																	144882558		2203	4296	6499	PDE4DIP	SO:0001583	missense	0			-	HGNC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3461T>C	1.37:g.144882558A>G	ENSP00000358360:p.Val1154Ala	Somatic	1	111	0.89		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	128	14.09	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP							pfam_Spindle_assoc,superfamily_ARM-type_fold	p.V1154A	ENST00000369354.3	37	c.3461	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178721	0.21787	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01369	4.99;4.99;4.97;4.97	5.99	-6.74	0.01743	.	.	.	.	.	T	0.00271	0.0008	L	0.31664	0.95	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.47114	-0.9142	9	0.08179	T	0.78	.	4.0769	0.09908	0.2354:0.2175:0.4408:0.1063	.	1154	Q5VU43	MYOME_HUMAN	A	1154;1154;1291;1291	ENSP00000358360:V1154A;ENSP00000358363:V1154A;ENSP00000435654:V1291A;ENSP00000358366:V1291A	ENSP00000358360:V1154A	V	-	2	0	PDE4DIP	143593915	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.491000	0.06474	-1.336000	0.02238	-0.250000	0.11733	GTT	-	NULL		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	A	NM_022359	-		144882558	-1	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	SNP	0.000	G	G	144882558	A	G	144882558	3	3	196	1	0	0	0	0	1	0	0	0	11645	43	2	5	3663	5	PDE4DIP	1	144882558	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	24372326	144882558	104368063	144	13416											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144931147	144931147	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacttctggccacctttcGaggtaccttacaaatggctt	8	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:144931147G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R188*|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.R188*|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCACCTTTCGAGGTACCTTA	0.557			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								ENSG00000178104						101	108	106					1																	144931147		2203	4300	6503	PDE4DIP	SO:0001627	intron_variant	0			-	HGNC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7326C>T	1.37:g.144931147G>A		Somatic	0	70	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	78	19.59	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP							superfamily_ARM-type_fold	p.R188*	ENST00000369354.3	37	c.562	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.240619	0.99366	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5264	0.50582	0.0:0.0:0.821:0.179	.	.	.	.	X	188	.	ENSP00000316434:R188X	R	-	1	2	PDE4DIP	143642504	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.749000	0.62155	2.467000	0.83353	0.462000	0.41574	CGA	-	NULL		0.557	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	G	NM_022359	-		144931147	-1	no_errors	ENST00000313431	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	144931147	G	A	144931147	1	1	196	0	1	0	0	0	0	0	0	0	11645	1066	37	1		1	PDE4DIP	1	144931147	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	48589	144931147	104319474	145	13417											
ANKRD35	148741	genome.wustl.edu	37	chr1	145561829	145561829	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtgtggcgagaaaAggatgctgcccggggggctt	18	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:145561829A>C	ENST00000355594.4	+	10	1604	c.1517A>C	c.(1516-1518)aAg>aCg	p.K506T		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	506										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCGAGAAAAGGATGCTGCC	0.617																																					Melanoma(9;127 754 22988 51047)												0								ENSG00000198483						90	106	100					1																	145561829		2203	4300	6503	ANKRD35	SO:0001583	missense	0			-	HGNC	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1517A>C	1.37:g.145561829A>C	ENSP00000347802:p.Lys506Thr	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	60	34.07	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K506T	ENST00000355594.4	37	c.1517	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	a	15.74	2.923130	0.52653	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.70749	-0.51	5.23	5.23	0.72850	.	0.000000	0.52532	D	0.000072	T	0.77935	0.4205	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80948	-0.1154	10	0.66056	D	0.02	-36.651	11.4426	0.50105	1.0:0.0:0.0:0.0	.	506	Q8N283	ANR35_HUMAN	T	415;506	ENSP00000347802:K506T	ENSP00000347802:K506T	K	+	2	0	ANKRD35	144273186	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.864000	0.62990	2.196000	0.70406	0.529000	0.55759	AAG	-	NULL		0.617	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	protein_coding	OTTHUMT00000038515.1	A	NM_144698	-		145561829	1	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	SNP	1.000	C	C	145561829	A	C	145561829	3	2	196	1	0	0	0	0	1	0	0	0	664	72	3	5	1555	5	ANKRD35	1	145561829	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	630682	145561829	103688792	146	13418											
CHD1L	9557	genome.wustl.edu	37	chr1	146736135	146736135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccatccagaacagcctcCaagagctctactccctcctc	4	20	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:146736135C>T	ENST00000369258.4	+	7	651	c.631C>T	c.(631-633)Caa>Taa	p.Q211*	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.Q211*|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	211	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GAACAGCCTCCAAGAGCTCTA	0.408																																																	0								ENSG00000131778						72	68	69					1																	146736135		2203	4300	6503	CHD1L	SO:0001587	stop_gained	0			-	HGNC	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.631C>T	1.37:g.146736135C>T	ENSP00000358262:p.Gln211*	Somatic	0	58	0		0.52429534266604	8	27.27	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	44	38.36	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q211*	ENST00000369258.4	37	c.631	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.629770	0.96671	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	.	.	.	5.27	5.27	0.74061	.	0.053400	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.743	0.69469	0.0:1.0:0.0:0.0	.	.	.	.	X	211;211;111;172	.	ENSP00000254086:Q172X	Q	+	1	0	CHD1L	145202759	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.120000	0.64685	2.621000	0.88768	0.650000	0.86243	CAA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.408	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	protein_coding	OTTHUMT00000040377.1	C	NM_004284	-		146736135	1	no_errors	ENST00000369258	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	146736135	C	T	146736135	4	4	196	1	0	0	0	0	0	1	0	0	3326	595	21	2	657	2	CHD1L	1	146736135	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1174306	146736135	102514486	147	13419											
GJA5	2702	genome.wustl.edu	37	chr1	147230586	147230586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctctggactatgcccacaGaggggccagaaagctggcac	13	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:147230586G>A	ENST00000271348.2	-	2	922	c.761C>T	c.(760-762)tCt>tTt	p.S254F	GJA5_ENST00000369237.1_Missense_Mutation_p.S254F|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	254					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TATGCCCACAGAGGGGCCAGA	0.537																																																	0								ENSG00000143140						62	67	66					1																	147230586		2203	4300	6503	GJA5	SO:0001583	missense	0			-	HGNC		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.761C>T	1.37:g.147230586G>A	ENSP00000271348:p.Ser254Phe	Somatic	0	32	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	24	47.83	Q5T3B6|Q5U0N6	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.S254F	ENST00000271348.2	37	c.761	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810979	0.50421	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.97665	-4.48;-4.48	5.68	4.77	0.60923	.	3.650830	0.00794	N	0.001372	D	0.91422	0.7293	L	0.44542	1.39	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.81992	-0.0678	10	0.56958	D	0.05	.	6.7211	0.23330	0.072:0.1193:0.6712:0.1374	.	254	P36382	CXA5_HUMAN	F	254	ENSP00000271348:S254F;ENSP00000358240:S254F	ENSP00000271348:S254F	S	-	2	0	GJA5	145697210	0.507000	0.26146	0.007000	0.13788	0.812000	0.45895	3.151000	0.50670	1.400000	0.46741	0.563000	0.77884	TCT	-	NULL		0.537	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	protein_coding	OTTHUMT00000039422.2	G	NM_181703	-		147230586	-1	no_errors	ENST00000271348	ensembl	human	known	74_37	missense	SNP	0.019	A	A	147230586	G	A	147230586	3	1	196	1	0	0	0	0	1	0	0	0	6406	942	33	2	319	2	GJA5	1	147230586	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	494451	147230586	102020035	148	13420											
GPR89B	51463	genome.wustl.edu	37	chr1	147416171	147416171	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctttatgtatttcttctGgaaactaggagatccctttc	7	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:147416171G>A	ENST00000314163.7	+	5	518	c.374G>A	c.(373-375)tGg>tAg	p.W125*		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	125					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					TATTTCTTCTGGAAACTAGGA	0.403																																																	0								ENSG00000188092						7	11	9					1																	147416171		1725	3580	5305	GPR89B	SO:0001587	stop_gained	0			-	HGNC	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"G protein-coupled receptor 89", "G protein-coupled receptor 89C"	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.374G>A	1.37:g.147416171G>A	ENSP00000358233:p.Trp125*	Somatic	0	62	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	40	44.44	A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Nonsense_Mutation	SNP							pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.W125*	ENST00000314163.7	37	c.374	CCDS930.1	1	.	.	.	.	.	.	.	.	.	.	g	37	6.448098	0.97577	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.636	16.1344	0.81475	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000358233:W125X	W	+	2	0	GPR89B	145882795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.512000	0.98008	2.142000	0.66516	0.644000	0.83932	TGG	-	NULL		0.403	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89B	protein_coding	OTTHUMT00000037481.2	G	NM_016334	-		147416171	1	no_errors	ENST00000314163	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	147416171	G	A	147416171	4	1	196	1	0	0	0	0	0	1	0	0	6721	1357	47	2	392	2	GPR89B	1	147416171	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	185585	147416171	101834450	149	13421											
MRPS21	54460	genome.wustl.edu	37	chr1	150280620	150280620	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggctcgcaagatcaacttCttgatgcgaaagaatcgggc	11	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:150280620C>A	ENST00000369084.5	+	2	669	c.222C>A	c.(220-222)ttC>ttA	p.F74L	MRPS21_ENST00000309092.7_Missense_Mutation_p.F74L	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	74					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-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)			AGATCAACTTCTTGATGCGAA	0.547																																																	0								ENSG00000187145						55	50	52					1																	150280620		2203	4300	6503	MRPS21	SO:0001583	missense	0			-	HGNC	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"Mitochondrial ribosomal proteins / small subunits"	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.222C>A	1.37:g.150280620C>A	ENSP00000358080:p.Phe74Leu	Somatic	0	45	0		0.52429534266604	1040	48.95	1004	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	20	62.26	Q5TB11|Q9BST6	Missense_Mutation	SNP							pfam_Ribosomal_S21,tigrfam_Ribosomal_S21	p.F74L	ENST00000369084.5	37	c.222	CCDS950.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396449	0.62177	.	.	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.35048	1.33;1.33	4.94	3.97	0.46021	.	.	.	.	.	T	0.17619	0.0423	.	.	.	0.58432	D	0.999997	B	0.19935	0.04	B	0.20384	0.029	T	0.06899	-1.0801	8	0.62326	D	0.03	.	11.8747	0.52539	0.0:0.9066:0.0:0.0934	.	74	P82921	RT21_HUMAN	L	74	ENSP00000312395:F74L;ENSP00000358080:F74L	ENSP00000312395:F74L	F	+	3	2	MRPS21	148547244	0.924000	0.31332	1.000000	0.80357	0.991000	0.79684	1.269000	0.33074	1.177000	0.42855	0.655000	0.94253	TTC	-	NULL		0.547	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS21	protein_coding	OTTHUMT00000035813.1	C	NM_018997	-		150280620	1	no_errors	ENST00000309092	ensembl	human	known	74_37	missense	SNP	1.000	A	A	150280620	C	A	150280620	3	1	196	1	0	0	0	0	1	0	0	0	9834	912	32	3	228	3	MRPS21	1	150280620	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2864449	150280620	98970001	150	13422											
RORC	6097	genome.wustl.edu	37	chr1	151780029	151780029	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaaagcggcttggaccacGatggggtggaggtgctggaa	20	6	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:151780029G>A	ENST00000318247.6	-	11	1583	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	LINGO4_ENST00000368820.3_5'Flank|RORC_ENST00000356728.6_Silent_p.I471I|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.I546I	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	492	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGGACCACGATGGGGTGGA	0.577																																																	0								ENSG00000143365						119	110	113					1																	151780029		2203	4300	6503	RORC	SO:0001819	synonymous_variant	0			-	HGNC	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1476C>T	1.37:g.151780029G>A		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	77	13.48	Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt	p.I546	ENST00000318247.6	37	c.1638	CCDS1004.1	1																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ROR_rcpt		0.577	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	protein_coding	OTTHUMT00000036626.1	G		-		151780029	-1	no_errors	ENST00000392697	ensembl	human	known	74_37	silent	SNP	0.940	A	A	151780029	G	A	151780029	2	1	196	1	0	0	0	0	0	0	0	1	13538	1048	37	1		1	RORC	1	151780029	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1499409	151780029	97470592	151	13423											
TCHHL1	126637	genome.wustl.edu	37	chr1	152058558	152058558	+	Missense_Mutation	SNP	C	C	T													tgtgaatggtgactcagggtCctccccctggtaaccatcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152058558C>T	ENST00000368806.1	-	3	1664	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	534							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)			GACTCAGGGTCCTCCCCCTGG	0.507																																																	0								ENSG00000182898						131	120	123					1																	152058558		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.1600G>A	1.37:g.152058558C>T	ENSP00000357796:p.Asp534Asn	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	34	35.85	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.D534N	ENST00000368806.1	37	c.1600	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569671	0.45798	.	.	ENSG00000182898	ENST00000368806	T	0.31510	1.49	5.35	2.03	0.26663	.	0.530412	0.15747	N	0.246621	T	0.07863	0.0197	L	0.50333	1.59	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.30327	-0.9982	10	0.19147	T	0.46	-3.2132	3.385	0.07268	0.0:0.5189:0.2177:0.2633	.	534	Q5QJ38	TCHL1_HUMAN	N	534	ENSP00000357796:D534N	ENSP00000357796:D534N	D	-	1	0	TCHHL1	150325182	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.564000	0.23563	0.636000	0.30508	-0.894000	0.02916	GAC	-	NULL		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	C	XM_060104	-		152058558	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.001	T	T	152058558	C	T	152058558	3	4	196	1	0	0	0	0	1	0	0	0	15708	855	30	2	1118	2	TCHHL1	1	152058558	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	278529	152058558	97192063	152	13424	211	2									
TCHHL1	126637	genome.wustl.edu	37	chr1	152058561	152058561	+	Missense_Mutation	SNP	C	C	T													gaatggtgactcagggtcctCcccctggtaaccatcctcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152058561C>T	ENST00000368806.1	-	3	1661	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	533							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)			TCAGGGTCCTCCCCCTGGTAA	0.507																																																	0								ENSG00000182898						131	120	124					1																	152058561		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.1597G>A	1.37:g.152058561C>T	ENSP00000357796:p.Glu533Lys	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.E533K	ENST00000368806.1	37	c.1597	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	18.11	3.551628	0.65311	.	.	ENSG00000182898	ENST00000368806	T	0.33654	1.4	5.45	-2.67	0.06059	.	0.781386	0.10838	N	0.628617	T	0.11922	0.0290	L	0.54323	1.7	0.09310	N	1	B	0.23316	0.083	B	0.26517	0.07	T	0.36792	-0.9733	10	0.30078	T	0.28	-1.4011	6.0549	0.19807	0.0:0.3304:0.1687:0.501	.	533	Q5QJ38	TCHL1_HUMAN	K	533	ENSP00000357796:E533K	ENSP00000357796:E533K	E	-	1	0	TCHHL1	150325185	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.382000	0.07408	-0.269000	0.09298	0.650000	0.86243	GAG	-	NULL		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	C	XM_060104	-		152058561	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152058561	C	T	152058561	3	4	196	1	0	0	0	0	1	0	0	0	15708	864	30	2	1121	2	TCHHL1	1	152058561	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3	152058561	97192060	153	13425	211	2									
HRNR	388697	genome.wustl.edu	37	chr1	152185643	152185643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgagccagaacttcccCcatcatggttacttcctcct	5	14	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152185643C>T	ENST00000368801.2	-	3	8537	c.8462G>A	c.(8461-8463)gGg>gAg	p.G2821E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2821					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAACTTCCCCCATCATGGTT	0.443																																																	0								ENSG00000197915						74	77	76					1																	152185643		2203	4300	6503	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8462G>A	1.37:g.152185643C>T	ENSP00000357791:p.Gly2821Glu	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	89	18.35	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2821E	ENST00000368801.2	37	c.8462	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384667	0.11524	.	.	ENSG00000197915	ENST00000368801	T	0.02525	4.26	4.56	0.311	0.15831	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B	0.26744	0.158	B	0.22152	0.038	T	0.46205	-0.9208	9	0.35671	T	0.21	.	3.5149	0.07721	0.3627:0.4398:0.0:0.1975	.	2821	Q86YZ3	HORN_HUMAN	E	2821	ENSP00000357791:G2821E	ENSP00000357791:G2821E	G	-	2	0	HRNR	150452267	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.544000	0.06077	-0.033000	0.13736	-0.258000	0.10820	GGG	-	NULL		0.443	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152185643	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152185643	C	T	152185643	3	4	196	1	0	0	0	0	1	0	0	0	7361	623	22	2	94	2	HRNR	1	152185643	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	127082	152185643	97064978	154	13426											
FLG	2312	genome.wustl.edu	37	chr1	152275690	152275690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catctcttgactgctcccgaGaagatccatgatggtttctg	9	11	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152275690G>A	ENST00000368799.1	-	3	11707	c.11672C>T	c.(11671-11673)tCt>tTt	p.S3891F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3891	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)			CTGCTCCCGAGAAGATCCATG	0.547									Ichthyosis																																								0								ENSG00000143631						96	100	99					1																	152275690		2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.11672C>T	1.37:g.152275690G>A	ENSP00000357789:p.Ser3891Phe	Somatic	0	93	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	117	25.48	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S3891F	ENST00000368799.1	37	c.11672	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	3.040	-0.197657	0.06219	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.17	-2.77	0.05877	.	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	B	0.24963	0.115	B	0.20767	0.031	T	0.44528	-0.9322	9	0.56958	D	0.05	.	2.5587	0.04766	0.2692:0.0:0.3459:0.3849	.	3891	P20930	FILA_HUMAN	F	3891	ENSP00000357789:S3891F	ENSP00000357789:S3891F	S	-	2	0	FLG	150542314	0.968000	0.33430	0.000000	0.03702	0.000000	0.00434	0.711000	0.25764	-0.773000	0.04596	-1.815000	0.00603	TCT	-	NULL		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	-		152275690	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	A	A	152275690	G	A	152275690	3	1	196	1	0	0	0	0	1	0	0	0	5924	942	33	2	517	2	FLG	1	152275690	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	90047	152275690	96974931	155	13427											
FLG2	388698	genome.wustl.edu	37	chr1	152325695	152325695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttgagatccactttggcCgtgagtgtgtcctgaatgtg	13	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152325695C>T	ENST00000388718.5	-	3	4639	c.4567G>A	c.(4567-4569)Ggc>Agc	p.G1523S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1523					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACTTTGGCCGTGAGTGTGT	0.498																																																	0								ENSG00000143520						306	293	297					1																	152325695		2203	4300	6503	FLG2	SO:0001583	missense	0			-	HGNC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4567G>A	1.37:g.152325695C>T	ENSP00000373370:p.Gly1523Ser	Somatic	1	101	0.98		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	104	30.20	Q9H4U1	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G1523S	ENST00000388718.5	37	c.4567	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	t	8.024	0.760287	0.15914	.	.	ENSG00000143520	ENST00000388718	T	0.13089	2.62	4.43	-3.1	0.05315	.	.	.	.	.	T	0.01800	0.0057	L	0.46157	1.445	0.09310	N	1	D	0.52996	0.957	B	0.34242	0.178	T	0.43245	-0.9403	9	0.07644	T	0.81	0.9125	5.0308	0.14409	0.0:0.4192:0.23:0.3508	.	1523	Q5D862	FILA2_HUMAN	S	1523	ENSP00000373370:G1523S	ENSP00000373370:G1523S	G	-	1	0	FLG2	150592319	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.790000	0.04604	-0.878000	0.04007	-0.382000	0.06688	GGC	-	NULL		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	C	NM_001014342	-		152325695	-1	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152325695	C	T	152325695	3	4	196	1	0	0	0	0	1	0	0	0	5925	652	23	1	2612	1	FLG2	1	152325695	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	50005	152325695	96924926	156	13428											
LCE1D	353134	genome.wustl.edu	37	chr1	152770602	152770602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcagcagccagcactctgGaggctgctgctgaagtggac	16	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152770602G>A	ENST00000326233.6	+	2	375	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	111	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTGGAGGCTGCTGC	0.612																																																	0								ENSG00000172155						39	36	37					1																	152770602		2025	3753	5778	LCE1D	SO:0001583	missense	0			-	HGNC		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.332G>A	1.37:g.152770602G>A	ENSP00000316737:p.Gly111Glu	Somatic	0	87	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	98	11.71		Missense_Mutation	SNP							NULL	p.G111E	ENST00000326233.6	37	c.332	CCDS1025.1	1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188604	0.21954	.	.	ENSG00000172155	ENST00000326233	T	0.05025	3.51	4.69	3.5	0.40072	.	0.500463	0.15021	N	0.284984	T	0.03348	0.0097	M	0.72118	2.19	0.26159	N	0.98002	B	0.24576	0.106	B	0.23150	0.044	T	0.23084	-1.0198	10	0.87932	D	0	.	5.8098	0.18460	0.18:0.0:0.82:0.0	.	111	Q5T752	LCE1D_HUMAN	E	111	ENSP00000316737:G111E	ENSP00000316737:G111E	G	+	2	0	LCE1D	151037226	0.999000	0.42202	0.991000	0.47740	0.708000	0.40852	2.084000	0.41625	2.307000	0.77673	0.555000	0.69702	GGA	-	NULL		0.612	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1D	protein_coding	OTTHUMT00000034657.2	G	NM_178352	-		152770602	1	no_errors	ENST00000326233	ensembl	human	known	74_37	missense	SNP	0.991	A	A	152770602	G	A	152770602	3	1	196	1	0	0	0	0	1	0	0	0	8664	1174	41	2	334	2	LCE1D	1	152770602	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	444907	152770602	96480019	157	13429											
C1orf77	26097	genome.wustl.edu	37	chr1	153614779	153614779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggttaggccgacccataGgggccctggccaggggagca	16	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:153614779G>A	ENST00000368694.3	+	4	589	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	CHTOP_ENST00000368686.1_Missense_Mutation_p.G54R|CHTOP_ENST00000403433.1_Missense_Mutation_p.G93R|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368690.3_Missense_Mutation_p.G93R|CHTOP_ENST00000368687.1_Missense_Mutation_p.G68R	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	93	Arg/Gly-rich.				mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CCGACCCATAGGGGCCCTGGC	0.567																																																	0								ENSG00000160679						55	56	56					1																	153614779		2203	4300	6503	CHTOP	SO:0001583	missense	0			-	HGNC		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"small protein rich in arginine and glycine", "Friend of Prmt1"	614206	"chromosome 1 open reading frame 77"	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.277G>A	1.37:g.153614779G>A	ENSP00000357683:p.Gly93Arg	Somatic	0	62	0		0.52429534266604	236	31.41	109	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	80	33.61	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP							NULL	p.G93R	ENST00000368694.3	37	c.277	CCDS1048.1	1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274235	0.59649	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687;ENST00000368686	D;D;D;D	0.90197	-2.49;-2.63;-2.63;-2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.93353	0.6720	10	0.72032	D	0.01	-0.6779	17.243	0.87019	0.0:0.0:1.0:0.0	.	93;94;93	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	R	93;93;93;68;54	ENSP00000357683:G93R;ENSP00000385228:G93R;ENSP00000357679:G93R;ENSP00000357676:G68R	ENSP00000357675:G54R	G	+	1	0	CHTOP	151881403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.937000	0.99478	0.650000	0.86243	GGG	-	NULL		0.567	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHTOP	protein_coding	OTTHUMT00000089967.1	G	NM_015607	-		153614779	1	no_errors	ENST00000368694	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153614779	G	A	153614779	3	1	196	1	0	0	0	0	1	0	0	0	2061	1000	35	2	287	2	C1orf77	1	153614779	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	844177	153614779	95635842	158	13430											
CRTC2	200186	genome.wustl.edu	37	chr1	153925794	153925794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcctgggtaggtatcCtggggactggggttcatcac	18	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:153925794C>T	ENST00000368633.1	-	6	682	c.555G>A	c.(553-555)caG>caA	p.Q185Q	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	185					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTAGGTATCCTGGGGACTGG	0.577																																																	0								ENSG00000160741						71	73	73					1																	153925794		2203	4300	6503	CRTC2	SO:0001819	synonymous_variant	0			-	HGNC	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.555G>A	1.37:g.153925794C>T		Somatic	0	55	0		0.52429534266604	31	35.42	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	51	42.70	Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP							NULL	p.Q185	ENST00000368633.1	37	c.555	CCDS30875.1	1																																																																																			-	NULL		0.577	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	protein_coding	OTTHUMT00000090272.3	C	NM_181715	-		153925794	-1	no_errors	ENST00000368633	ensembl	human	known	74_37	silent	SNP	1.000	T	T	153925794	C	T	153925794	2	4	196	1	0	0	0	0	0	0	0	1	3902	680	24	2		2	CRTC2	1	153925794	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	311015	153925794	95324827	159	13431											
ATP8B2	57198	genome.wustl.edu	37	chr1	154315646	154315646	+	Missense_Mutation	SNP	G	G	A													ggccctggtcaccgcagccaGgaactttggttttgttttcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154315646G>A	ENST00000368489.3	+	16	1610	c.1610G>A	c.(1609-1611)aGg>aAg	p.R537K		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	523					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCGCAGCCAGGAACTTTGGT	0.557																																																	0								ENSG00000143515						76	61	66					1																	154315646		2203	4300	6503	ATP8B2	SO:0001583	missense	0			-	HGNC	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1610G>A	1.37:g.154315646G>A	ENSP00000357475:p.Arg537Lys	Somatic	0	15	0		0.52429534266604	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R537K	ENST00000368489.3	37	c.1610	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.760256	0.96898	.	.	ENSG00000143515	ENST00000368489	T	0.62498	0.02	5.58	5.58	0.84498	.	0.053176	0.85682	N	0.000000	T	0.55321	0.1913	L	0.59912	1.85	0.80722	D	1	P	0.38335	0.627	B	0.42882	0.401	T	0.51988	-0.8635	10	0.27785	T	0.31	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	537	P98198-3	.	K	537	ENSP00000357475:R537K	ENSP00000357475:R537K	R	+	2	0	ATP8B2	152582270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	AGG	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	protein_coding	OTTHUMT00000087658.2	G	NM_020452	-		154315646	1	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	SNP	1.000	A	A	154315646	G	A	154315646	3	1	196	1	0	0	0	0	1	0	0	0	1195	1000	35	2	1802	2	ATP8B2	1	154315646	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	389852	154315646	94934975	160	13432	212	2									
ATP8B2	57198	genome.wustl.edu	37	chr1	154315647	154315647	+	Silent	SNP	G	G	A													gccctggtcaccgcagccagGaactttggttttgttttccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154315647G>A	ENST00000368489.3	+	16	1611	c.1611G>A	c.(1609-1611)agG>agA	p.R537R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	523					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGCAGCCAGGAACTTTGGTT	0.557																																																	0								ENSG00000143515						77	62	67					1																	154315647		2203	4300	6503	ATP8B2	SO:0001819	synonymous_variant	0			-	HGNC	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1611G>A	1.37:g.154315647G>A		Somatic	0	15	0		0.52429534266604	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	34.62	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R537	ENST00000368489.3	37	c.1611	CCDS1066.1	1																																																																																			-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	protein_coding	OTTHUMT00000087658.2	G	NM_020452	-		154315647	1	no_errors	ENST00000368489	ensembl	human	known	74_37	silent	SNP	0.963	A	A	154315647	G	A	154315647	2	1	196	1	0	0	0	0	0	0	0	1	1195	1165	41	2		2	ATP8B2	1	154315647	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	154315647	94934974	161	13433	212	2									
PBXIP1	57326	genome.wustl.edu	37	chr1	154918538	154918538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccttgggggttccttcgGgccctgtcgcttgccctcct	11	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154918538G>A	ENST00000368463.3	-	10	1683	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.P365S|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P383S|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P509S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	538					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			GGTTCCTTCGGGCCCTGTCGC	0.617																																																	0								ENSG00000163346						145	151	149					1																	154918538		2203	4300	6503	PBXIP1	SO:0001583	missense	0			-	HGNC	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1612C>T	1.37:g.154918538G>A	ENSP00000357448:p.Pro538Ser	Somatic	0	19	0		0.52429534266604	151	22.56	44	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP							NULL	p.P383S	ENST00000368463.3	37	c.1147	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.191351	0.01607	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.10860	2.83;2.83;2.85;2.84	4.5	0.17	0.15021	.	1.782800	0.02795	N	0.122515	T	0.01558	0.0050	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36601	-0.9741	10	0.10111	T	0.7	-0.7533	4.4173	0.11463	0.3009:0.0:0.5389:0.1601	.	538	Q96AQ6	PBIP1_HUMAN	S	509;538;538;365;314;383	ENSP00000357450:P509S;ENSP00000357448:P538S;ENSP00000440142:P365S;ENSP00000438584:P383S	ENSP00000295523:P538S	P	-	1	0	PBXIP1	153185162	0.000000	0.05858	0.003000	0.11579	0.475000	0.33008	-0.411000	0.07142	0.481000	0.27557	0.313000	0.20887	CCG	-	NULL		0.617	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	protein_coding	OTTHUMT00000090943.1	G	NM_020524	-		154918538	-1	no_errors	ENST00000542459	ensembl	human	known	74_37	missense	SNP	0.000	A	A	154918538	G	A	154918538	3	1	196	1	0	0	0	0	1	0	0	0	11498	1232	43	2	591	2	PBXIP1	1	154918538	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	602891	154918538	94332083	162	13434											
PYGO2	90780	genome.wustl.edu	37	chr1	154932276	154932276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccaggtgatccaccatgGgagttgggggtggtgcaaac	15	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154932276G>A	ENST00000368457.2	-	3	371	c.200C>T	c.(199-201)cCc>cTc	p.P67L	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P30L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	67	Pro-rich.				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)			ATCCACCATGGGAGTTGGGGG	0.552																																					NSCLC(87;357 1460 1955 21029 23522)												0								ENSG00000163348						44	46	45					1																	154932276		2203	4300	6503	PYGO2	SO:0001583	missense	0			-	HGNC	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.200C>T	1.37:g.154932276G>A	ENSP00000357442:p.Pro67Leu	Somatic	0	58	0		0.52429534266604	10	58.33	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	65	36.27	Q8WYZ4|Q96CY2	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P67L	ENST00000368457.2	37	c.200	CCDS1075.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393229	0.83011	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.65364	-0.15;-0.08	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70037	-0.4982	10	0.87932	D	0	-4.5553	16.9037	0.86120	0.0:0.0:1.0:0.0	.	67	Q9BRQ0	PYGO2_HUMAN	L	67;30	ENSP00000357442:P67L;ENSP00000357441:P30L	ENSP00000357441:P30L	P	-	2	0	PYGO2	153198900	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.546000	0.98097	2.521000	0.84997	0.455000	0.32223	CCC	-	NULL		0.552	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	protein_coding	OTTHUMT00000090949.1	G	NM_138300	-		154932276	-1	no_errors	ENST00000368457	ensembl	human	known	74_37	missense	SNP	1.000	A	A	154932276	G	A	154932276	3	1	196	1	0	0	0	0	1	0	0	0	12872	1232	43	2	1024	2	PYGO2	1	154932276	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	13738	154932276	94318345	163	13435											
LENEP	55891	genome.wustl.edu	37	chr1	154966128	154966128	+	Silent	SNP	C	C	T													gcccaaaccctacccttcttCctcggaggggcccctcgaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154966128C>T	ENST00000392487.1	+	1	65	c.45C>T	c.(43-45)ttC>ttT	p.F15F				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	15					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	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)			TACCCTTCTTCCTCGGAGGGG	0.617																																																	0								ENSG00000163352						55	56	56					1																	154966128		2203	4300	6503	LENEP	SO:0001819	synonymous_variant	0			-	HGNC	AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.45C>T	1.37:g.154966128C>T		Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	82	44.59	B5BUM1|Q5T1A4	Silent	SNP							NULL	p.F15	ENST00000392487.1	37	c.45	CCDS1080.1	1																																																																																			-	NULL		0.617	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	protein_coding	OTTHUMT00000385609.2	C	NM_018655	-		154966128	1	no_errors	ENST00000368427	ensembl	human	known	74_37	silent	SNP	0.978	T	T	154966128	C	T	154966128	2	4	196	1	0	0	0	0	0	0	0	1	8724	854	30	2		2	LENEP	1	154966128	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	33852	154966128	94284493	164	13436	213	2									
LENEP	55891	genome.wustl.edu	37	chr1	154966129	154966129	+	Missense_Mutation	SNP	C	C	T													cccaaaccctacccttcttcCtcggaggggcccctcgagac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154966129C>T	ENST00000392487.1	+	1	66	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	16					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	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)			ACCCTTCTTCCTCGGAGGGGC	0.612																																																	0								ENSG00000163352						55	55	55					1																	154966129		2203	4300	6503	LENEP	SO:0001583	missense	0			-	HGNC	AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.46C>T	1.37:g.154966129C>T	ENSP00000376278:p.Leu16Phe	Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	80	44.90	B5BUM1|Q5T1A4	Missense_Mutation	SNP							NULL	p.L16F	ENST00000392487.1	37	c.46	CCDS1080.1	1	.	.	.	.	.	.	.	.	.	.	C	4.209	0.037500	0.08148	.	.	ENSG00000163352	ENST00000392487	.	.	.	5.13	1.14	0.20703	.	0.722427	0.11396	N	0.568299	T	0.14399	0.0348	.	.	.	0.30220	N	0.796897	B	0.09022	0.002	B	0.09377	0.004	T	0.16424	-1.0403	8	0.38643	T	0.18	-3.9922	6.9168	0.24363	0.0:0.6069:0.0:0.3931	.	16	Q9Y5L5	LENEP_HUMAN	F	16	.	ENSP00000357412:L16F	L	+	1	0	LENEP	153232753	0.715000	0.27946	0.626000	0.29213	0.087000	0.18053	0.581000	0.23819	0.049000	0.15920	-0.244000	0.11960	CTC	-	NULL		0.612	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	protein_coding	OTTHUMT00000385609.2	C	NM_018655	-		154966129	1	no_errors	ENST00000368427	ensembl	human	known	74_37	missense	SNP	0.838	T	T	154966129	C	T	154966129	3	4	196	1	0	0	0	0	1	0	0	0	8724	681	24	2	48	2	LENEP	1	154966129	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	154966129	94284492	165	13437	213	2									
DCST2	127579	genome.wustl.edu	37	chr1	155002676	155002676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgatgtagatattgtcaTaatggtcccagttcaggtaa	10	5	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155002676T>C	ENST00000368424.3	-	7	1119	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	DCST2_ENST00000295536.5_Missense_Mutation_p.Y354C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	354						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			GATATTGTCATAATGGTCCCA	0.587																																																	0								ENSG00000163354						99	98	98					1																	155002676		2203	4300	6503	DCST2	SO:0001583	missense	0			-	HGNC	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1061A>G	1.37:g.155002676T>C	ENSP00000357409:p.Tyr354Cys	Somatic	0	91	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	92	33.81	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP							pfam_DC_STAMP-like	p.Y354C	ENST00000368424.3	37	c.1061	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471796	0.26423	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.38560	1.13;1.13	4.83	-0.959	0.10343	Dendritic cell-specific transmembrane protein-like (1);	0.446133	0.22489	N	0.059400	T	0.33323	0.0859	L	0.61218	1.895	0.09310	N	1	D	0.63880	0.993	P	0.54372	0.75	T	0.38908	-0.9639	10	0.87932	D	0	-8.4972	10.9592	0.47374	0.3534:0.0:0.0:0.6466	.	354	Q5T1A1	DCST2_HUMAN	C	354	ENSP00000357409:Y354C;ENSP00000295536:Y354C	ENSP00000295536:Y354C	Y	-	2	0	DCST2	153269300	0.177000	0.23109	0.000000	0.03702	0.154000	0.21943	1.381000	0.34362	-0.391000	0.07763	-0.327000	0.08410	TAT	-	pfam_DC_STAMP-like		0.587	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	protein_coding	OTTHUMT00000090953.3	T	NM_144622	-		155002676	-1	no_errors	ENST00000368424	ensembl	human	known	74_37	missense	SNP	0.000	C	C	155002676	T	C	155002676	3	2	196	1	0	0	0	0	1	0	0	0	4305	1406	49	5	1296	5	DCST2	1	155002676	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	36547	155002676	94247945	166	13438											
GON4L	54856	genome.wustl.edu	37	chr1	155736173	155736173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccattttgctcggagGggcttctgaatgagttgatc	13	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155736173G>A	ENST00000368331.1	-	21	3139	c.3091C>T	c.(3091-3093)Cct>Tct	p.P1031S	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.P1031S|GON4L_ENST00000437809.1_Missense_Mutation_p.P1031S|GON4L_ENST00000271883.5_Missense_Mutation_p.P1031S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1031					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTCGGAGGGGCTTCTGAA	0.562																																																	0								ENSG00000116580						81	84	83					1																	155736173		2203	4300	6503	GON4L	SO:0001583	missense	0			-	HGNC	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3091C>T	1.37:g.155736173G>A	ENSP00000357315:p.Pro1031Ser	Somatic	0	87	0		0.52429534266604	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	82	19.61	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP							pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.P1031S	ENST00000368331.1	37	c.3091		1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783775	0.49891	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.73	4.73	0.59995	.	0.174192	0.39909	N	0.001233	T	0.61899	0.2384	L	0.56769	1.78	0.33768	D	0.622684	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.64093	-0.6488	10	0.45353	T	0.12	.	11.0709	0.48004	0.0853:0.0:0.9147:0.0	.	1031;227;1031;1031	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	1031	ENSP00000396117:P1031S;ENSP00000357315:P1031S;ENSP00000271883:P1031S;ENSP00000354322:P1031S	ENSP00000271883:P1031S	P	-	1	0	GON4L	154002797	1.000000	0.71417	0.991000	0.47740	0.439000	0.31926	2.292000	0.43549	2.465000	0.83290	0.655000	0.94253	CCT	-	NULL		0.562	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	protein_coding		G	NM_032292	-		155736173	-1	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	SNP	0.997	A	A	155736173	G	A	155736173	3	1	196	1	0	0	0	0	1	0	0	0	6574	1232	43	2	3796	2	GON4L	1	155736173	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	733497	155736173	93514448	167	13439											
RIT1	6016	genome.wustl.edu	37	chr1	155874290	155874290	+	Missense_Mutation	SNP	C	C	T													gtcccgcatggctgtaaactCtgcctagagggaaacaaggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155874290C>T	ENST00000368323.3	-	5	445	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RIT1_ENST00000539040.1_Missense_Mutation_p.E45K|RIT1_ENST00000368322.3_Missense_Mutation_p.E98K	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	81			E -> G (in NS8; results in increased ELK1 transcriptional activation). {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)			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)			GCTGTAAACTCTGCCTAGAGG	0.428																																																	0								ENSG00000143622						73	62	66					1																	155874290		2203	4300	6503	RIT1	SO:0001583	missense	0			-	HGNC	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.241G>A	1.37:g.155874290C>T	ENSP00000357306:p.Glu81Lys	Somatic	0	51	0		0.52429534266604	29	21.62	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	39	43.48	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E98K	ENST00000368323.3	37	c.292	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.278538	0.95459	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.77489	-1.1;-1.1;-1.1	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.59357	0.856	D	0.83829	0.0251	10	0.87932	D	0	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	81	Q92963	RIT1_HUMAN	K	81;45;98	ENSP00000357306:E81K;ENSP00000441950:E45K;ENSP00000357305:E98K	ENSP00000357305:E98K	E	-	1	0	RIT1	154140914	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	GAG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	protein_coding	OTTHUMT00000039593.1	C	NM_006912	-		155874290	-1	no_errors	ENST00000368322	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155874290	C	T	155874290	3	4	196	1	0	0	0	0	1	0	0	0	13394	922	32	2	426	2	RIT1	1	155874290	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	138117	155874290	93376331	168	13440	214	2									
RIT1	6016	genome.wustl.edu	37	chr1	155874291	155874291	+	Silent	SNP	T	T	A													tcccgcatggctgtaaactcTgcctagagggaaacaagggt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155874291T>A	ENST00000368323.3	-	5	444	c.240A>T	c.(238-240)gcA>gcT	p.A80A	RIT1_ENST00000539040.1_Silent_p.A44A|RIT1_ENST00000368322.3_Silent_p.A97A	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	80					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)			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)			CTGTAAACTCTGCCTAGAGGG	0.428																																																	0								ENSG00000143622						73	62	66					1																	155874291		2203	4300	6503	RIT1	SO:0001819	synonymous_variant	0			-	HGNC	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.240A>T	1.37:g.155874291T>A		Somatic	0	51	0		0.52429534266604	30	18.92	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	39	43.48	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP							pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q83L	ENST00000368323.3	37	c.248	CCDS1123.1	1																																																																																			-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	protein_coding	OTTHUMT00000039593.1	T	NM_006912	-		155874291	-1	no_errors	ENST00000461050	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155874291	T	A	155874291	2	1	196	1	0	0	0	0	0	0	0	1	13394	1567	55	5		5	RIT1	1	155874291	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	155874291	93376330	169	13441	214	2									
KIAA0907	22889	genome.wustl.edu	37	chr1	155891652	155891652	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacttcaagatgtacacacCtggtaaaggtacagcagtat	8	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155891652C>T	ENST00000368321.3	-	9	1035	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Splice_Site_p.G338S|KIAA0907_ENST00000368319.3_Splice_Site_p.A338T|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	338	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATGTACACACCTGGTAAAGGT	0.383																																																	0								ENSG00000132680						86	86	86					1																	155891652		2203	4300	6503	KIAA0907	SO:0001630	splice_region_variant	0			-	HGNC	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1012+1G>A	1.37:g.155891652C>T		Somatic	0	100	0		0.52429534266604	15	6.25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	76	47.62	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP							NULL	p.G338S	ENST00000368321.3	37	c.1012	CCDS30885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.544143|4.544143	0.86022|0.86022	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368319|ENST00000368321;ENST00000368320	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.160586	.|0.56097	.|D	.|0.000031	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.29908|0.29908	0.895|0.895	0.20975|0.20975	N|N	0.999814|0.999814	D|P;P	0.60575|0.47962	0.988|0.844;0.903	P|P;P	0.62885|0.56398	0.908|0.797;0.795	T|T	0.21109|0.21109	-1.0255|-1.0255	7|8	.|.	.|.	.|.	-7.9971|-7.9971	18.1253|18.1253	0.89584|0.89584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	338|338;338	Q7Z7F0-3|Q7Z7F0-2;Q7Z7F0	.|.;K0907_HUMAN	T|S	338|338	.|.	.|.	A|G	-|-	1|1	0|0	KIAA0907|KIAA0907	154158276|154158276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.652000|5.652000	0.67959|0.67959	2.821000|2.821000	0.97095|0.97095	0.484000|0.484000	0.47621|0.47621	GCA|GGC	-	NULL		0.383	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	protein_coding	OTTHUMT00000039583.1	C	NM_014949	-	Missense_Mutation	155891652	-1	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155891652	C	T	155891652	5	4	196	1	0	0	0	0	0	0	1	0	8201	695	24	2	856	2	KIAA0907	1	155891652	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	17361	155891652	93358969	170	13442											
NES	10763	genome.wustl.edu	37	chr1	156639422	156639422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcctccatcccactggGgatctctagagggccaggga	12	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156639422G>A	ENST00000368223.3	-	4	4690	c.4558C>T	c.(4558-4560)Ccc>Tcc	p.P1520S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1520	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)			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)					ATCCCACTGGGGATCTCTAGA	0.577																																																	0								ENSG00000132688						66	60	62					1																	156639422		2203	4300	6503	NES	SO:0001583	missense	0			-	HGNC	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.4558C>T	1.37:g.156639422G>A	ENSP00000357206:p.Pro1520Ser	Somatic	0	41	0		0.52429534266604	516	11.3	66	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.56	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP							pfam_IF	p.P1520S	ENST00000368223.3	37	c.4558	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894485	0.17613	.	.	ENSG00000132688	ENST00000368223	D	0.89552	-2.53	4.34	2.28	0.28536	.	.	.	.	.	T	0.70029	0.3177	L	0.48642	1.525	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.61402	-0.7070	9	0.51188	T	0.08	.	2.8551	0.05570	0.1034:0.2874:0.4475:0.1616	.	1520	P48681	NEST_HUMAN	S	1520	ENSP00000357206:P1520S	ENSP00000357206:P1520S	P	-	1	0	NES	154906046	0.014000	0.17966	0.025000	0.17156	0.012000	0.07955	0.758000	0.26447	0.805000	0.34159	0.313000	0.20887	CCC	-	NULL		0.577	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	protein_coding	OTTHUMT00000082844.2	G	NM_006617	-		156639422	-1	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	SNP	0.002	A	A	156639422	G	A	156639422	3	1	196	1	0	0	0	0	1	0	0	0	10339	1232	43	2	311	2	NES	1	156639422	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	747770	156639422	92611199	171	13443											
NES	10763	genome.wustl.edu	37	chr1	156641983	156641983	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttttccagagctgtcaatGactctaagttctcttgcaga	7	11	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156641983G>A	ENST00000368223.3	-	4	2129	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	666	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)			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)					AGCTGTCAATGACTCTAAGTT	0.418																																																	0								ENSG00000132688						53	49	50					1																	156641983		2203	4300	6503	NES	SO:0001583	missense	0			-	HGNC	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.1997C>T	1.37:g.156641983G>A	ENSP00000357206:p.Ser666Leu	Somatic	0	36	0		0.52429534266604	58	34.83	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP							pfam_IF	p.S666L	ENST00000368223.3	37	c.1997	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856500	0.71834	.	.	ENSG00000132688	ENST00000368223	D	0.86432	-2.12	5.28	3.38	0.38709	.	0.689810	0.11216	N	0.587210	T	0.69824	0.3154	L	0.46157	1.445	0.09310	N	1	P	0.43788	0.817	B	0.33454	0.164	T	0.63005	-0.6733	10	0.87932	D	0	.	10.0282	0.42085	0.1697:0.0:0.8303:0.0	.	666	P48681	NEST_HUMAN	L	666	ENSP00000357206:S666L	ENSP00000357206:S666L	S	-	2	0	NES	154908607	0.043000	0.20138	0.008000	0.14137	0.886000	0.51366	2.316000	0.43761	1.223000	0.43536	0.467000	0.42956	TCA	-	NULL		0.418	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	protein_coding	OTTHUMT00000082844.2	G	NM_006617	-		156641983	-1	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	SNP	0.010	A	A	156641983	G	A	156641983	3	1	196	1	0	0	0	0	1	0	0	0	10339	1294	45	2	2872	2	NES	1	156641983	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2561	156641983	92608638	172	13444											
HDGF	3068	genome.wustl.edu	37	chr1	156714910	156714910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttggattcctcgtaagGgaagaggtctttggggccca	13	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156714910G>A	ENST00000357325.5	-	3	507	c.193C>T	c.(193-195)Cct>Tct	p.P65S	HDGF_ENST00000368209.5_Missense_Mutation_p.P58S|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Missense_Mutation_p.P65S|HDGF_ENST00000368206.5_Missense_Mutation_p.P81S|HDGF_ENST00000416666.2_Missense_Mutation_p.P33S	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	65	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)		TCCTCGTAAGGGAAGAGGTCT	0.577																																																	0								ENSG00000143321						89	82	84					1																	156714910		2203	4300	6503	HDGF	SO:0001583	missense	0			-	HGNC	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.193C>T	1.37:g.156714910G>A	ENSP00000349878:p.Pro65Ser	Somatic	0	62	0		0.52429534266604	350	34.82	187	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	48	30.43	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP							pfam_PWWP_dom	p.P81S	ENST00000357325.5	37	c.241	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117766	0.77323	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.51	4.51	0.55191	PWWP (3);	0.000000	0.85682	U	0.000000	D	0.85509	0.5713	M	0.88105	2.93	0.43489	D	0.995725	D;B;D;D;D	0.89917	1.0;0.395;1.0;1.0;0.967	D;P;D;D;P	0.74674	0.984;0.676;0.984;0.977;0.822	D	0.87938	0.2715	10	0.66056	D	0.02	-5.2808	14.8085	0.69977	0.0:0.0:1.0:0.0	.	33;65;81;58;65	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	S	65;58;65;33;81	ENSP00000349878:P65S;ENSP00000357192:P58S;ENSP00000443120:P65S;ENSP00000416752:P33S;ENSP00000357189:P81S	ENSP00000349878:P65S	P	-	1	0	HDGF	154981534	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.675000	0.84002	2.378000	0.81104	0.306000	0.20318	CCT	-	pfam_PWWP_dom		0.577	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	protein_coding	OTTHUMT00000098946.1	G	NM_004494	-		156714910	-1	no_errors	ENST00000368206	ensembl	human	known	74_37	missense	SNP	1.000	A	A	156714910	G	A	156714910	3	1	196	1	0	0	0	0	1	0	0	0	7020	1232	43	2	545	2	HDGF	1	156714910	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	72927	156714910	92535711	173	13445											
FCRL5	83416	genome.wustl.edu	37	chr1	157504547	157504547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgagctgctccacaggGgcatgtcctcatgataaaac	11	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157504547G>A	ENST00000361835.3	-	8	1695	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	FCRL5_ENST00000368191.3_Missense_Mutation_p.P428L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P513L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P513L|FCRL5_ENST00000368189.3_Missense_Mutation_p.P513L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	513	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCCACAGGGGCATGTCCTC	0.507																																																	0								ENSG00000143297						62	62	62					1																	157504547		2203	4300	6503	FCRL5	SO:0001583	missense	0			-	HGNC	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1538C>T	1.37:g.157504547G>A	ENSP00000354691:p.Pro513Leu	Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P513L	ENST00000361835.3	37	c.1538	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077667	0.01903	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	3.54	-7.08	0.01558	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01454	0.0047	N	0.16098	0.37	0.09310	N	1	B;B;B;B;B;B	0.17667	0.023;0.008;0.002;0.005;0.017;0.009	B;B;B;B;B;B	0.25291	0.059;0.023;0.01;0.003;0.01;0.012	T	0.47156	-0.9139	9	0.27785	T	0.31	.	7.7222	0.28740	0.7107:0.1251:0.1642:0.0	.	544;428;513;513;513;513	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	L	513;513;513;428;513	ENSP00000354691:P513L;ENSP00000349434:P513L;ENSP00000357173:P513L;ENSP00000357174:P428L;ENSP00000357172:P513L	ENSP00000349434:P513L	P	-	2	0	FCRL5	155771171	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.177000	0.03096	-1.845000	0.01176	0.313000	0.20887	CCC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	protein_coding	OTTHUMT00000046263.1	G	NM_031281	-		157504547	-1	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	SNP	0.000	A	A	157504547	G	A	157504547	3	1	196	1	0	0	0	0	1	0	0	0	5800	1232	43	2	1435	2	FCRL5	1	157504547	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	789637	157504547	91746074	174	13446											
FCRL3	115352	genome.wustl.edu	37	chr1	157648536	157648536	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtaatacacgtggtacattCtcatagttttcttcatcatc	5	9	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157648536C>T	ENST00000368184.3	-	15	2460	c.2169G>A	c.(2167-2169)gaG>gaA	p.E723E	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.E723E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	723						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTGGTACATTCTCATAGTTTT	0.502																																																	0								ENSG00000160856						185	161	169					1																	157648536		2203	4300	6503	FCRL3	SO:0001819	synonymous_variant	0			-	HGNC	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2169G>A	1.37:g.157648536C>T		Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	81	10.00	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E729	ENST00000368184.3	37	c.2187	CCDS1167.1	1																																																																																			-	NULL		0.502	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	protein_coding	OTTHUMT00000051419.2	C	NM_052939	-		157648536	-1	no_errors	ENST00000492769	ensembl	human	known	74_37	silent	SNP	0.989	T	T	157648536	C	T	157648536	2	4	196	1	0	0	0	0	0	0	0	1	5798	912	32	2		2	FCRL3	1	157648536	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	143989	157648536	91602085	175	13447											
FCRL3	115352	genome.wustl.edu	37	chr1	157665235	157665235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttgaaggaggctcctcctCcagagggggctgagctgttc	16	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157665235C>T	ENST00000368184.3	-	8	1586	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.G432E|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	432	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTCCTCCTCCAGAGGGGGC	0.567																																																	0								ENSG00000160856						116	115	116					1																	157665235		2203	4300	6503	FCRL3	SO:0001583	missense	0			-	HGNC	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1295G>A	1.37:g.157665235C>T	ENSP00000357167:p.Gly432Glu	Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	93	25.00	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G438E	ENST00000368184.3	37	c.1313	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.771787	0.49680	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03035	4.07;4.07	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.519429	0.16288	N	0.221033	T	0.19765	0.0475	H	0.97186	3.955	0.28303	N	0.923033	D;D;D	0.76494	0.999;0.989;0.999	D;D;D	0.75484	0.98;0.978;0.986	T	0.34850	-0.9812	10	0.52906	T	0.07	.	14.4543	0.67407	0.0:1.0:0.0:0.0	.	432;337;432	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	432	ENSP00000357169:G432E;ENSP00000357167:G432E	ENSP00000292392:G432E	G	-	2	0	FCRL3	155931859	0.960000	0.32886	0.913000	0.36048	0.153000	0.21895	0.837000	0.27558	2.461000	0.83175	0.655000	0.94253	GGA	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.567	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	protein_coding	OTTHUMT00000051419.2	C	NM_052939	-		157665235	-1	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	SNP	0.935	T	T	157665235	C	T	157665235	3	4	196	1	0	0	0	0	1	0	0	0	5798	855	30	2	941	2	FCRL3	1	157665235	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	16699	157665235	91585386	176	13448											
FCRL2	79368	genome.wustl.edu	37	chr1	157718702	157718702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctcctccatgtctggGgttgggcttgaataggtgaa	14	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157718702G>A	ENST00000361516.3	-	9	1404	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	FCRL2_ENST00000368181.4_Silent_p.T168T|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	452					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATGTCTGGGGTTGGGCTTG	0.507																																																	0								ENSG00000132704						92	91	92					1																	157718702		2203	4300	6503	FCRL2	SO:0001819	synonymous_variant	0			-	HGNC	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1356C>T	1.37:g.157718702G>A		Somatic	0	73	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	98	11.61	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T452	ENST00000361516.3	37	c.1356	CCDS1168.1	1																																																																																			-	NULL		0.507	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	protein_coding	OTTHUMT00000051408.2	G	NM_030764	-		157718702	-1	no_errors	ENST00000361516	ensembl	human	known	74_37	silent	SNP	0.005	A	A	157718702	G	A	157718702	2	1	196	1	0	0	0	0	0	0	0	1	5797	1219	43	2		2	FCRL2	1	157718702	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	53467	157718702	91531919	177	13449											
CD1A	909	genome.wustl.edu	37	chr1	158226673	158226673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctacccaaagcccgtgtgGgtgatgtggatgcggggtga	16	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:158226673G>A	ENST00000289429.5	+	4	1235	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	234	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGCCCGTGTGGGTGATGTGGA	0.632																																																	0								ENSG00000158477						94	87	90					1																	158226673		2203	4298	6501	CD1A	SO:0001587	stop_gained	0			-	HGNC	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.702G>A	1.37:g.158226673G>A	ENSP00000289429:p.Trp234*	Somatic	0	71	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	117	17.61	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Nonsense_Mutation	SNP							pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.W234*	ENST00000289429.5	37	c.702	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.149786	0.98678	.	.	ENSG00000158477	ENST00000289429	.	.	.	3.8	3.8	0.43715	.	0.450602	0.16731	N	0.201840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5091	11.4332	0.50054	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000289429:W234X	W	+	3	0	CD1A	156493297	0.843000	0.29541	0.999000	0.59377	0.827000	0.46813	0.750000	0.26334	2.133000	0.65898	0.485000	0.47835	TGG	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.632	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	protein_coding	OTTHUMT00000046349.2	G	NM_001763	-		158226673	1	no_errors	ENST00000289429	ensembl	human	known	74_37	nonsense	SNP	0.997	A	A	158226673	G	A	158226673	4	1	196	1	0	0	0	0	0	1	0	0	2976	1241	43	2	716	2	CD1A	1	158226673	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	507971	158226673	91023948	178	13450											
OR6Y1	391112	genome.wustl.edu	37	chr1	158517681	158517681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cataccacatctccaggaagGagaggtggctcaagaagaag	12	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:158517681G>A	ENST00000302617.3	-	1	214	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTCCAGGAAGGAGAGGTGGCT	0.468																																																	0								ENSG00000197532						92	86	88					1																	158517681		2202	4300	6502	OR6Y1	SO:0001583	missense	0			-	HGNC	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.215C>T	1.37:g.158517681G>A	ENSP00000304807:p.Ser72Phe	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	Q6IFS0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72F	ENST00000302617.3	37	c.215	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402831	0.62288	.	.	ENSG00000197532	ENST00000302617	T	0.12361	2.69	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.41650	0.1168	M	0.93978	3.48	0.32728	N	0.509329	D	0.89917	1.0	D	0.91635	0.999	T	0.56643	-0.7945	10	0.87932	D	0	.	17.3869	0.87418	0.0:0.0:1.0:0.0	.	72	Q8NGX8	OR6Y1_HUMAN	F	72	ENSP00000304807:S72F	ENSP00000304807:S72F	S	-	2	0	OR6Y1	156784305	0.684000	0.27642	0.642000	0.29436	0.965000	0.64279	3.665000	0.54532	2.695000	0.91970	0.563000	0.77884	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	protein_coding	OTTHUMT00000051844.1	G	NM_001005189	-		158517681	-1	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	SNP	0.688	A	A	158517681	G	A	158517681	3	1	196	1	0	0	0	0	1	0	0	0	11215	1174	41	2	764	2	OR6Y1	1	158517681	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	291008	158517681	90732940	179	13451											
OR10J3	441911	genome.wustl.edu	37	chr1	159283599	159283599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacaacagggttcagtaGgggagtgatgagtgtaggtc	16	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:159283599G>A	ENST00000332217.5	-	1	850	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGGTTCAGTAGGGGAGTGATG	0.507																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000196266						121	105	111					1																	159283599		2203	4300	6503	OR10J3	SO:0001583	missense	0			-	HGNC		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.851C>T	1.37:g.159283599G>A	ENSP00000331789:p.Pro284Leu	Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	35	49.28		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P284L	ENST00000332217.5	37	c.851	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266082	0.59540	.	.	ENSG00000196266	ENST00000332217	T	0.44083	0.93	5.34	2.27	0.28462	.	0.000000	0.32671	U	0.005784	T	0.61185	0.2327	H	0.97186	3.955	0.42677	D	0.993532	D	0.64830	0.994	D	0.73708	0.981	T	0.63972	-0.6516	10	0.87932	D	0	.	4.1252	0.10125	0.2856:0.1722:0.5422:0.0	.	284	Q5JRS4	O10J3_HUMAN	L	284	ENSP00000331789:P284L	ENSP00000331789:P284L	P	-	2	0	OR10J3	157550223	0.000000	0.05858	0.987000	0.45799	0.925000	0.55904	-0.280000	0.08468	0.820000	0.34516	0.655000	0.94253	CCT	-	NULL		0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	protein_coding	OTTHUMT00000090629.1	G		-		159283599	-1	no_errors	ENST00000332217	ensembl	human	known	74_37	missense	SNP	0.993	A	A	159283599	G	A	159283599	3	1	196	1	0	0	0	0	1	0	0	0	10913	1000	35	2	140	2	OR10J3	1	159283599	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	765918	159283599	89967022	180	13452											
OR10J3	441911	genome.wustl.edu	37	chr1	159284008	159284008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaatccccagtgatcCagaggccagttggatacagg	12	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:159284008C>T	ENST00000332217.5	-	1	441	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCCAGTGATCCAGAGGCCAGT	0.517																																																	0								ENSG00000196266						71	65	67					1																	159284008		2203	4300	6503	OR10J3	SO:0001583	missense	0			-	HGNC		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.442G>A	1.37:g.159284008C>T	ENSP00000331789:p.Gly148Arg	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G148R	ENST00000332217.5	37	c.442	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120565	0.37436	.	.	ENSG00000196266	ENST00000332217	T	0.39592	1.07	5.03	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55986	0.1955	M	0.86420	2.815	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.52697	-0.8541	9	0.66056	D	0.02	.	10.9669	0.47418	0.0:0.9096:0.0:0.0904	.	148	Q5JRS4	O10J3_HUMAN	R	148	ENSP00000331789:G148R	ENSP00000331789:G148R	G	-	1	0	OR10J3	157550632	0.000000	0.05858	0.004000	0.12327	0.096000	0.18686	1.401000	0.34589	1.319000	0.45190	0.561000	0.74099	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	protein_coding	OTTHUMT00000090629.1	C		-		159284008	-1	no_errors	ENST00000332217	ensembl	human	known	74_37	missense	SNP	0.123	T	T	159284008	C	T	159284008	3	4	196	1	0	0	0	0	1	0	0	0	10913	603	21	2	549	2	OR10J3	1	159284008	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	409	159284008	89966613	181	13453											
CRP	1401	genome.wustl.edu	37	chr1	159683514	159683514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcaaagttcccaccgaagGaatcctgctcctgccccaag	7	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:159683514G>A	ENST00000255030.5	-	2	579	c.476C>T	c.(475-477)tCc>tTc	p.S159F	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	159	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CCCACCGAAGGAATCCTGCTC	0.522																																																	0								ENSG00000132693						231	230	230					1																	159683514		2203	4300	6503	CRP	SO:0001583	missense	0			-	HGNC	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.476C>T	1.37:g.159683514G>A	ENSP00000255030:p.Ser159Phe	Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S159F	ENST00000255030.5	37	c.476	CCDS30911.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349677	0.41599	.	.	ENSG00000132693	ENST00000255030	T	0.10192	2.9	4.34	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.600747	0.16770	N	0.200249	T	0.24431	0.0592	M	0.93507	3.425	0.09310	N	0.999996	D	0.89917	1.0	D	0.75020	0.985	T	0.16897	-1.0387	10	0.59425	D	0.04	-6.5832	7.3953	0.26934	0.0:0.186:0.622:0.192	.	159	P02741	CRP_HUMAN	F	159	ENSP00000255030:S159F	ENSP00000255030:S159F	S	-	2	0	CRP	157950138	0.000000	0.05858	0.261000	0.24466	0.821000	0.46438	0.639000	0.24690	0.772000	0.33382	0.650000	0.86243	TCC	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.522	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	protein_coding	OTTHUMT00000085553.1	G	NM_000567	-		159683514	-1	no_errors	ENST00000255030	ensembl	human	known	74_37	missense	SNP	0.049	A	A	159683514	G	A	159683514	3	1	196	1	0	0	0	0	1	0	0	0	3897	1174	41	2	202	2	CRP	1	159683514	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	399506	159683514	89567107	182	13454											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161018938	161018938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaacccttccagattgGgggtttaggtcccagaaggg	13	11	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:161018938G>A	ENST00000368013.3	-	12	2193	c.1873C>T	c.(1873-1875)Cca>Tca	p.P625S	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P625S|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P448S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	625					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCCAGATTGGGGGTTTAGGT	0.587																																																	0								ENSG00000186517						142	141	141					1																	161018938		2203	4300	6503	ARHGAP30	SO:0001583	missense	0			-	HGNC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1873C>T	1.37:g.161018938G>A	ENSP00000356992:p.Pro625Ser	Somatic	0	32	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P625S	ENST00000368013.3	37	c.1873	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	2.978	-0.211008	0.06140	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.29142	3.13;3.11;1.58	5.18	3.22	0.36961	.	1.403590	0.04868	N	0.445478	T	0.12475	0.0303	L	0.60455	1.87	0.09310	N	1	B;B	0.32467	0.309;0.372	B;B	0.29077	0.055;0.098	T	0.38308	-0.9667	10	0.15066	T	0.55	.	10.3496	0.43927	0.0:0.0:0.6289:0.3711	.	625;625	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	S	625;625;448	ENSP00000356995:P625S;ENSP00000356992:P625S;ENSP00000356994:P448S	ENSP00000356992:P625S	P	-	1	0	ARHGAP30	159285562	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.913000	0.28611	0.515000	0.28320	-0.324000	0.08512	CCA	-	NULL		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	protein_coding	OTTHUMT00000077090.2	G	NM_181720	-		161018938	-1	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	SNP	0.002	A	A	161018938	G	A	161018938	3	1	196	1	0	0	0	0	1	0	0	0	879	1232	43	2	1436	2	ARHGAP30	1	161018938	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1335424	161018938	88231683	183	13455											
LMX1A	4009	genome.wustl.edu	37	chr1	165182896	165182896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcctgcagggcttggaGgatacttcaaatgaggcctt	11	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:165182896G>A	ENST00000342310.3	-	5	1033	c.651C>T	c.(649-651)tcC>tcT	p.S217S	LMX1A_ENST00000367893.4_Silent_p.S217S|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.3_ENST00000441773.1_RNA|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000294816.2_Silent_p.S217S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	217					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGGCTTGGAGGATACTTCAA	0.557																																																	0								ENSG00000162761						174	158	163					1																	165182896		2203	4300	6503	LMX1A	SO:0001819	synonymous_variant	0			-	HGNC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.651C>T	1.37:g.165182896G>A		Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	71	29.00	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.S217	ENST00000342310.3	37	c.651	CCDS1247.1	1																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.557	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	protein_coding	OTTHUMT00000083668.2	G	NM_177398	-		165182896	-1	no_errors	ENST00000294816	ensembl	human	known	74_37	silent	SNP	0.997	A	A	165182896	G	A	165182896	2	1	196	1	0	0	0	0	0	0	0	1	8863	987	35	2		2	LMX1A	1	165182896	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4163958	165182896	84067725	184	13456											
CREG1	8804	genome.wustl.edu	37	chr1	167517278	167517278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattatgtgaacacaaagGggactttgtggatcaaatcc	10	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:167517278G>A	ENST00000370509.4	-	2	460	c.435C>T	c.(433-435)ccC>ccT	p.P145P	CREG1_ENST00000466652.1_5'Flank	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	145					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										GAACACAAAGGGGACTTTGTG	0.413																																																	0								ENSG00000143162						152	139	143					1																	167517278		2203	4300	6503	CREG1	SO:0001819	synonymous_variant	0			-	HGNC	AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"cellular repressor of E1A-stimulated genes"	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.435C>T	1.37:g.167517278G>A		Somatic	0	73	0		0.52429534266604	64	22.89	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	61	47.86	B2RDD4|Q8N9A3	Silent	SNP							superfamily_Split_barrel_FMN-bd,pirsf_CREG	p.P145	ENST00000370509.4	37	c.435	CCDS1262.1	1																																																																																			-	superfamily_Split_barrel_FMN-bd,pirsf_CREG		0.413	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREG1	protein_coding	OTTHUMT00000083911.1	G	NM_003851	-		167517278	-1	no_errors	ENST00000370509	ensembl	human	known	74_37	silent	SNP	1.000	A	A	167517278	G	A	167517278	2	1	196	1	0	0	0	0	0	0	0	1	3866	1219	43	2		2	CREG1	1	167517278	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2334382	167517278	81733343	185	13457											
F5	2153	genome.wustl.edu	37	chr1	169510971	169510971	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttcctctgggggcactgtCtgataaagacctggaggaca	13	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:169510971C>T	ENST00000367797.3	-	13	3558	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	F5_ENST00000367796.3_Silent_p.Q1124Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1119	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGGCACTGTCTGATAAAGAC	0.488																																																	0								ENSG00000198734						138	140	140					1																	169510971		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3357G>A	1.37:g.169510971C>T		Somatic	0	46	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	39	50.00	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1119	ENST00000367797.3	37	c.3357	CCDS1281.1	1																																																																																			-	NULL		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169510971	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	0.000	T	T	169510971	C	T	169510971	2	4	196	1	0	0	0	0	0	0	0	1	5350	912	32	2		2	F5	1	169510971	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1993693	169510971	79739650	186	13458											
F5	2153	genome.wustl.edu	37	chr1	169541485	169541485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataatttactgtacctaattCcttgaggatggatgctcaag	8	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:169541485C>T	ENST00000367797.3	-	3	548	c.347G>A	c.(346-348)gGa>gAa	p.G116E	F5_ENST00000367796.3_Missense_Mutation_p.G116E|F5_ENST00000546081.1_5'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	116	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTACCTAATTCCTTGAGGATG	0.338																																																	0								ENSG00000198734						61	63	62					1																	169541485		2202	4300	6502	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.347G>A	1.37:g.169541485C>T	ENSP00000356771:p.Gly116Glu	Somatic	0	71	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	87	25.00	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.G116E	ENST00000367797.3	37	c.347	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255385	0.80135	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99962	-9.41;-9.41	5.35	5.35	0.76521	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97152	0.9832	10	0.87932	D	0	-17.1823	16.5806	0.84714	0.0:1.0:0.0:0.0	.	116	P12259	FA5_HUMAN	E	116	ENSP00000356771:G116E;ENSP00000356770:G116E	ENSP00000356770:G116E	G	-	2	0	F5	167808109	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.812000	0.62613	2.506000	0.84524	0.563000	0.77884	GGA	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.338	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169541485	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	1.000	T	T	169541485	C	T	169541485	3	4	196	1	0	0	0	0	1	0	0	0	5350	855	30	2	6419	2	F5	1	169541485	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	30514	169541485	79709136	187	13459											
SELE	6401	genome.wustl.edu	37	chr1	169697010	169697010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgaattctccaataggGgaatgagcacacctcaccaa	9	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:169697010G>A	ENST00000333360.7	-	9	1477	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	SELE_ENST00000367776.1_Silent_p.S383S|SELE_ENST00000367774.1_Intron|SELE_ENST00000367775.1_Silent_p.S321S|SELE_ENST00000367781.4_Silent_p.S383S|SELE_ENST00000367777.1_Intron|SELE_ENST00000367780.4_Silent_p.S321S|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	446	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CTCCAATAGGGGAATGAGCAC	0.493																																																	0								ENSG00000007908						100	95	97					1																	169697010		2203	4300	6503	SELE	SO:0001819	synonymous_variant	0			-	HGNC	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1338C>T	1.37:g.169697010G>A		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92	A2RRD6|P16111	Silent	SNP							pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S446	ENST00000333360.7	37	c.1338	CCDS1283.1	1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	protein_coding	OTTHUMT00000084333.1	G	NM_000450	-		169697010	-1	no_errors	ENST00000333360	ensembl	human	known	74_37	silent	SNP	0.000	A	A	169697010	G	A	169697010	2	1	196	1	0	0	0	0	0	0	0	1	14021	1219	43	2		2	SELE	1	169697010	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	155525	169697010	79553611	188	13460											
BAT2L2	23215	genome.wustl.edu	37	chr1	171506500	171506500	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagctcgatctgcaagagatCacgcaatttccctttctgag	8	11	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:171506500C>T	ENST00000338920.4	+	15	2623	c.2386C>T	c.(2386-2388)Cac>Tac	p.H796Y	PRRC2C_ENST00000367742.3_Missense_Mutation_p.H798Y|PRRC2C_ENST00000426496.2_Missense_Mutation_p.H796Y|PRRC2C_ENST00000392078.3_Missense_Mutation_p.H798Y	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	796					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGCAAGAGATCACGCAATTTC	0.478																																																	0								ENSG00000117523						70	59	63					1																	171506500		2203	4300	6503	PRRC2C	SO:0001583	missense	0			-	HGNC	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2386C>T	1.37:g.171506500C>T	ENSP00000343629:p.His796Tyr	Somatic	0	36	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP							pfam_BAT2_N	p.H798Y	ENST00000338920.4	37	c.2392	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296695	0.40594	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.3	5.3	0.74995	.	0.000000	0.48286	D	0.000182	T	0.10337	0.0253	L	0.36672	1.1	0.53005	D	0.999964	D	0.63046	0.992	P	0.58660	0.843	T	0.02015	-1.1229	10	0.66056	D	0.02	.	14.7286	0.69362	0.1453:0.8547:0.0:0.0	.	796	Q9Y520-4	.	Y	798;797;796;798;796;553;555	ENSP00000375928:H798Y;ENSP00000410219:H796Y;ENSP00000356716:H798Y;ENSP00000343629:H796Y	ENSP00000343629:H796Y	H	+	1	0	PRRC2C	169773124	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.965000	0.63708	2.503000	0.84419	0.650000	0.86243	CAC	-	NULL		0.478	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	protein_coding	OTTHUMT00000314826.4	C	NM_015172	-		171506500	1	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171506500	C	T	171506500	3	4	196	1	0	0	0	0	1	0	0	0	1321	826	29	2	2440	2	BAT2L2	1	171506500	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1809490	171506500	77744121	189	13461											
BAT2L2	23215	genome.wustl.edu	37	chr1	171511038	171511038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatactcttggggatatttCcgggaataagacaccagatt	9	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:171511038C>T	ENST00000338920.4	+	16	4664	c.4427C>T	c.(4426-4428)tCc>tTc	p.S1476F	PRRC2C_ENST00000367742.3_Missense_Mutation_p.S1478F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S1476F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S1478F	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1476					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S1478F(1)									GGGGATATTTCCGGGAATAAG	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000117523						65	69	67					1																	171511038		2203	4300	6503	PRRC2C	SO:0001583	missense	0			-	HGNC	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4427C>T	1.37:g.171511038C>T	ENSP00000343629:p.Ser1476Phe	Somatic	0	22	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP							pfam_BAT2_N	p.S1478F	ENST00000338920.4	37	c.4433	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.704975|1.704975	0.30232|0.30232	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02140	.|4.43;4.43;4.43;4.43	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.46145	.|D	.|0.000316	T|T	0.07143|0.07143	0.0181|0.0181	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.71674	.|0.998	.|D	.|0.64877	.|0.93	T|T	0.12863|0.12863	-1.0531|-1.0531	5|10	.|0.72032	.|D	.|0.01	.|.	19.7924|19.7924	0.96464|0.96464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1476	.|Q9Y520-4	.|.	S|F	24|1478;1477;1476;1478;1476;1233	.|ENSP00000375928:S1478F;ENSP00000410219:S1476F;ENSP00000356716:S1478F;ENSP00000343629:S1476F	.|ENSP00000343629:S1476F	P|S	+|+	1|2	0|0	PRRC2C|PRRC2C	169777662|169777662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	6.728000|6.728000	0.74769|0.74769	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	CCG|TCC	-	NULL		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	protein_coding	OTTHUMT00000314826.4	C	NM_015172	-		171511038	1	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171511038	C	T	171511038	3	4	196	1	0	0	0	0	1	0	0	0	1321	855	30	2	4485	2	BAT2L2	1	171511038	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4538	171511038	77739583	190	13462											
C1orf105	92346	genome.wustl.edu	37	chr1	172425563	172425563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcccctcaggccaggagGaaccagtgtgactccatgct	10	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:172425563G>A	ENST00000367727.4	+	4	405	c.207G>A	c.(205-207)agG>agA	p.R69R	C1orf105_ENST00000367725.4_Silent_p.R59R|C1orf105_ENST00000367726.1_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	69										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGGCCAGGAGGAACCAGTGTG	0.532																																																	0								ENSG00000180999						126	122	124					1																	172425563		2203	4300	6503	C1orf105	SO:0001819	synonymous_variant	0			-	HGNC	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.207G>A	1.37:g.172425563G>A		Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	37	43.94	Q8IY02	Silent	SNP							NULL	p.R69	ENST00000367727.4	37	c.207	CCDS1301.1	1																																																																																			-	NULL		0.532	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	protein_coding	OTTHUMT00000084062.2	G	NM_139240	-		172425563	1	no_errors	ENST00000367727	ensembl	human	known	74_37	silent	SNP	0.028	A	A	172425563	G	A	172425563	2	1	196	1	0	0	0	0	0	0	0	1	1981	1165	41	2		2	C1orf105	1	172425563	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	914525	172425563	76825058	191	13463											
GPR52	9293	genome.wustl.edu	37	chr1	174417664	174417664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcttgcatcagtgtggatCgttatcttgcaataaccaag	9	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:174417664C>T	ENST00000367685.2	+	1	453	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	139					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAGTGTGGATCGTTATCTTGC	0.418																																					Ovarian(92;924 1390 1930 16467 40583)												0								ENSG00000203737						206	202	203					1																	174417664		2203	4300	6503	GPR52	SO:0001583	missense	0			-	HGNC	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.415C>T	1.37:g.174417664C>T	ENSP00000356658:p.Arg139Cys	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	17	46.88	O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R139C	ENST00000367685.2	37	c.415	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854757	0.71719	.	.	ENSG00000203737	ENST00000367685	D	0.97186	-4.28	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.98966	0.9648	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99260	1.0890	10	0.87932	D	0	-15.5579	20.2789	0.98501	0.0:1.0:0.0:0.0	.	139	Q9Y2T5	GPR52_HUMAN	C	139	ENSP00000356658:R139C	ENSP00000356658:R139C	R	+	1	0	GPR52	172684287	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.461000	0.80834	2.788000	0.95919	0.650000	0.86243	CGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	protein_coding	OTTHUMT00000084511.1	C	NM_005684	-		174417664	1	no_errors	ENST00000367685	ensembl	human	known	74_37	missense	SNP	1.000	T	T	174417664	C	T	174417664	3	4	196	1	0	0	0	0	1	0	0	0	6700	884	31	1	417	1	GPR52	1	174417664	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1992101	174417664	74832957	192	13464											
TNR	7143	genome.wustl.edu	37	chr1	175334385	175334385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactggaggaggtcacatgaGaaaagtgcagatgagagatg	15	5	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:175334385G>A	ENST00000367674.2	-	12	3056	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	TNR_ENST00000263525.2_Missense_Mutation_p.S783F			Q92752	TENR_HUMAN	tenascin R	783	Fibronectin type-III 6. {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)				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)					GGTCACATGAGAAAAGTGCAG	0.512																																																	0								ENSG00000116147						73	72	72					1																	175334385		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.2348C>T	1.37:g.175334385G>A	ENSP00000356646:p.Ser783Phe	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	57	9.52	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.S783F	ENST00000367674.2	37	c.2348	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060326	0.76074	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.60424	0.19;0.19	5.91	5.91	0.95273	Fibronectin, type III (4);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82004	-0.0672	10	0.72032	D	0.01	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	783	Q92752	TENR_HUMAN	F	783	ENSP00000356646:S783F;ENSP00000263525:S783F	ENSP00000263525:S783F	S	-	2	0	TNR	173601008	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.296000	0.96104	2.793000	0.96121	0.655000	0.94253	TCT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.512	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285	-		175334385	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	A	A	175334385	G	A	175334385	3	1	196	1	0	0	0	0	1	0	0	0	16345	942	33	2	1776	2	TNR	1	175334385	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	916721	175334385	73916236	193	13465											
PAPPA2	60676	genome.wustl.edu	37	chr1	176769237	176769237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcaatggcacccagaccCcgtcttagtccactgcatcc	8	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:176769237C>T	ENST00000367662.3	+	21	6335	c.5171C>T	c.(5170-5172)cCc>cTc	p.P1724L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1724	Sushi 5. {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)			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						CACCCAGACCCCGTCTTAGTC	0.468																																																	0								ENSG00000116183						130	126	128					1																	176769237		1921	4134	6055	PAPPA2	SO:0001583	missense	0			-	HGNC	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.5171C>T	1.37:g.176769237C>T	ENSP00000356634:p.Pro1724Leu	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	46	38.67	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P1724L	ENST00000367662.3	37	c.5171	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898594	0.72639	.	.	ENSG00000116183	ENST00000367662	T	0.01804	4.63	6.02	6.02	0.97574	Notch domain (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	D	0.66497	0.944	T	0.00318	-1.1821	10	0.87932	D	0	-19.2839	17.4575	0.87611	0.0:1.0:0.0:0.0	.	1724	Q9BXP8	PAPP2_HUMAN	L	1724	ENSP00000356634:P1724L	ENSP00000356634:P1724L	P	+	2	0	PAPPA2	175035860	0.995000	0.38212	0.975000	0.42487	0.488000	0.33401	4.604000	0.61112	2.865000	0.98341	0.655000	0.94253	CCC	-	smart_Notch_dom		0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	C		-		176769237	1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	SNP	0.994	T	T	176769237	C	T	176769237	3	4	196	1	0	0	0	0	1	0	0	0	11435	623	22	2	5302	2	PAPPA2	1	176769237	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1434852	176769237	72481384	194	13466											
ASTN1	460	genome.wustl.edu	37	chr1	176918416	176918416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgccgttgaagccgtcGgaacagtccaccccgatgtg	12	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:176918416G>A	ENST00000367654.3	-	12	2194	c.1983C>T	c.(1981-1983)tcC>tcT	p.S661S	ASTN1_ENST00000367657.3_Silent_p.S653S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.S653S|ASTN1_ENST00000361833.2_Silent_p.S653S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	661	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGAAGCCGTCGGAACAGTCCA	0.582											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000152092						59	58	58					1																	176918416		2203	4300	6503	ASTN1	SO:0001819	synonymous_variant	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1983C>T	1.37:g.176918416G>A		Somatic	0	43	0	1934	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	60	31.03	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP							superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S661	ENST00000367654.3	37	c.1983		1																																																																																			-	smart_EG-like_dom		0.582	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		G	NM_004319	-		176918416	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	SNP	0.000	A	A	176918416	G	A	176918416	2	1	196	1	0	0	0	0	0	0	0	1	1064	1103	39	1		1	ASTN1	1	176918416	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	149179	176918416	72332205	195	13467											
SEC16B	89866	genome.wustl.edu	37	chr1	177930030	177930030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaactcacaggaacatgagGgatgtagaacttcatgggtg	13	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:177930030G>A	ENST00000308284.6	-	7	921	c.832C>T	c.(832-834)Cct>Tct	p.P278S	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.P279S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	278					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGAACATGAGGGATGTAGAAC	0.517																																																	0								ENSG00000120341						71	77	75					1																	177930030		2110	4239	6349	SEC16B	SO:0001583	missense	0			-	HGNC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.832C>T	1.37:g.177930030G>A	ENSP00000308339:p.Pro278Ser	Somatic	0	66	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	68	21.84	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP							NULL	p.P278S	ENST00000308284.6	37	c.832	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637693	0.47049	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	0.92;0.92	5.75	3.82	0.43975	Sec16, central conserved domain (1);	0.088495	0.49916	N	0.000128	T	0.53981	0.1830	M	0.82823	2.61	0.51012	D	0.999904	P;D;B	0.52996	0.926;0.957;0.187	P;P;B	0.49853	0.624;0.624;0.192	T	0.62690	-0.6801	10	0.66056	D	0.02	-10.8319	11.5354	0.50634	0.0685:0.1248:0.8068:0.0	.	279;279;278	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	S	278;279	ENSP00000308339:P278S;ENSP00000431727:P279S	ENSP00000308339:P278S	P	-	1	0	AL359075.1	176196653	1.000000	0.71417	0.894000	0.35097	0.203000	0.24098	4.234000	0.58658	1.434000	0.47414	0.655000	0.94253	CCT	-	NULL		0.517	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	protein_coding	OTTHUMT00000084773.16	G	NM_033127	-		177930030	-1	no_errors	ENST00000308284	ensembl	human	known	74_37	missense	SNP	0.980	A	A	177930030	G	A	177930030	3	1	196	1	0	0	0	0	1	0	0	0	13995	1232	43	2	2430	2	SEC16B	1	177930030	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1011614	177930030	71320591	196	13468											
C1orf125	126859	genome.wustl.edu	37	chr1	179399630	179399630	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagttgacacaaaaatGgagaaacttagtgaataaac	9	5	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:179399630G>A	ENST00000367618.3	+	14	1763	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Nonsense_Mutation_p.W459*	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	459										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACACAAAAATGGAGAAACTTA	0.328																																																	0								ENSG00000162779						89	87	88					1																	179399630		2203	4300	6503	AXDND1	SO:0001587	stop_gained	0			-	HGNC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1376G>A	1.37:g.179399630G>A	ENSP00000356590:p.Trp459*	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	51	44.57	Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP							pfam_Axonemal_dynein_light_chain	p.W459*	ENST00000367618.3	37	c.1376	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326749	0.81690	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	.	.	.	5.09	5.09	0.68999	.	0.138860	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8752	14.3497	0.66691	0.0:0.0:1.0:0.0	.	.	.	.	X	459;417;459;393	.	ENSP00000353471:W417X	W	+	2	0	AXDND1	177666253	1.000000	0.71417	0.913000	0.36048	0.489000	0.33432	2.980000	0.49321	2.523000	0.85059	0.460000	0.39030	TGG	-	NULL		0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	protein_coding	OTTHUMT00000085312.1	G	NM_144696	-		179399630	1	no_errors	ENST00000367618	ensembl	human	known	74_37	nonsense	SNP	0.993	A	A	179399630	G	A	179399630	4	1	196	1	0	0	0	0	0	1	0	0	1995	1357	47	2	1426	2	C1orf125	1	179399630	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1469600	179399630	69850991	197	13469											
NPHS2	7827	genome.wustl.edu	37	chr1	179533899	179533899	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgaggacaagaagccactCacaggcccctaagccggagg	12	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:179533899C>T	ENST00000367615.4	-	2	372	c.304G>A	c.(304-306)Gag>Aag	p.E102K	NPHS2_ENST00000367616.4_Missense_Mutation_p.E102K	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	102					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGAAGCCACTCACAGGCCCCT	0.413																																																	0			GRCh37	CM044692	NPHS2	M		ENSG00000116218						66	70	68					1																	179533899		2203	4300	6503	NPHS2	SO:0001583	missense	0			-	HGNC	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.304G>A	1.37:g.179533899C>T	ENSP00000356587:p.Glu102Lys	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	74	34.21	B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP							pfam_Band_7,smart_Band_7,prints_Stomatin	p.E102K	ENST00000367615.4	37	c.304	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548386	0.45383	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99803	-6.82;-6.82	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	M	0.71871	2.18	0.58432	D	0.999997	D;D	0.76494	0.969;0.999	P;D	0.72625	0.766;0.978	D	0.99605	1.0979	10	0.28530	T	0.3	-20.118	17.8888	0.88865	0.0:1.0:0.0:0.0	.	102;102	Q9NP85-2;Q9NP85	.;PODO_HUMAN	K	102	ENSP00000356587:E102K;ENSP00000356588:E102K	ENSP00000356587:E102K	E	-	1	0	NPHS2	177800522	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	5.568000	0.67385	2.567000	0.86603	0.561000	0.74099	GAG	-	NULL		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	protein_coding	OTTHUMT00000085283.1	C		-		179533899	-1	no_errors	ENST00000367615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179533899	C	T	179533899	3	4	196	1	0	0	0	0	1	0	0	0	10585	835	29	2	875	2	NPHS2	1	179533899	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	134269	179533899	69716722	198	13470											
ACBD6	84320	genome.wustl.edu	37	chr1	180257560	180257560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttttgcagcctgtcacctCctctggcaggcagccatcct	9	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180257560C>T	ENST00000367595.3	-	8	1474	c.787G>A	c.(787-789)Gag>Aag	p.E263K	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	263						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CCTGTCACCTCCTCTGGCAGG	0.522																																																	0								ENSG00000135847						49	48	48					1																	180257560		2203	4300	6503	ACBD6	SO:0001583	missense	0			-	HGNC	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"Ankyrin repeat domain containing"	23339	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 6"			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.787G>A	1.37:g.180257560C>T	ENSP00000356567:p.Glu263Lys	Somatic	0	33	0		0.52429534266604	188	34.49	99	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00		Missense_Mutation	SNP							pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt	p.E263K	ENST00000367595.3	37	c.787	CCDS1339.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.543982	0.96488	.	.	ENSG00000135847	ENST00000367595	T	0.50813	0.73	5.66	5.66	0.87406	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.35487	1.065	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.57112	-0.7867	10	0.41790	T	0.15	-21.0854	19.3412	0.94342	0.0:1.0:0.0:0.0	.	263	Q9BR61	ACBD6_HUMAN	K	263	ENSP00000356567:E263K	ENSP00000356567:E263K	E	-	1	0	ACBD6	178524183	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.702000	0.74628	2.645000	0.89757	0.650000	0.86243	GAG	-	NULL		0.522	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD6	protein_coding	OTTHUMT00000084998.1	C	NM_032360	-		180257560	-1	no_errors	ENST00000367595	ensembl	human	known	74_37	missense	SNP	1.000	T	T	180257560	C	T	180257560	3	4	196	1	0	0	0	0	1	0	0	0	126	864	30	2	65	2	ACBD6	1	180257560	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	723661	180257560	68993061	199	13471											
KIAA1614	57710	genome.wustl.edu	37	chr1	180905046	180905046	+	Silent	SNP	C	C	T													aagaaggctgaggcggagctCccttggggccttcaggccca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180905046C>T	ENST00000367588.4	+	5	2056	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	KIAA1614_ENST00000367587.1_Silent_p.L288L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	667										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGCGGAGCTCCCTTGGGGCC	0.652																																																	0								ENSG00000135835						43	48	46					1																	180905046		1955	4155	6110	KIAA1614	SO:0001819	synonymous_variant	0			-	HGNC	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2001C>T	1.37:g.180905046C>T		Somatic	0	39	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	46	42.50	Q5VZ45|Q9HCF8	Silent	SNP							NULL	p.L667	ENST00000367588.4	37	c.2001	CCDS41442.1	1																																																																																			-	NULL		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	protein_coding	OTTHUMT00000085151.1	C	XM_046531	-		180905046	1	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	SNP	0.001	T	T	180905046	C	T	180905046	2	4	196	1	0	0	0	0	0	0	0	1	8250	842	30	2		2	KIAA1614	1	180905046	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	647486	180905046	68345575	200	13472	215	2									
KIAA1614	57710	genome.wustl.edu	37	chr1	180905047	180905047	+	Missense_Mutation	SNP	C	C	T													agaaggctgaggcggagctcCcttggggccttcaggcccag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180905047C>T	ENST00000367588.4	+	5	2057	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P289S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	668										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGGAGCTCCCTTGGGGCCT	0.647																																																	0								ENSG00000135835						44	48	47					1																	180905047		1951	4155	6106	KIAA1614	SO:0001583	missense	0			-	HGNC	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2002C>T	1.37:g.180905047C>T	ENSP00000356560:p.Pro668Ser	Somatic	0	40	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	47	41.98	Q5VZ45|Q9HCF8	Missense_Mutation	SNP							NULL	p.P668S	ENST00000367588.4	37	c.2002	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	c	14.38	2.518228	0.44763	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25414	2.33;1.8	4.77	1.42	0.22433	.	0.553109	0.17091	N	0.187370	T	0.15825	0.0381	L	0.32530	0.975	0.29149	N	0.878491	B	0.33318	0.408	B	0.27170	0.077	T	0.13388	-1.0511	9	0.66056	D	0.02	-4.3841	6.9467	0.24522	0.1497:0.6777:0.0:0.1726	.	668	Q5VZ46	K1614_HUMAN	S	668;289	ENSP00000356560:P668S;ENSP00000356559:P289S	ENSP00000356559:P289S	P	+	1	0	KIAA1614	179171670	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.518000	0.22847	0.433000	0.26313	0.556000	0.70494	CCT	-	NULL		0.647	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	protein_coding	OTTHUMT00000085151.1	C	XM_046531	-		180905047	1	no_errors	ENST00000367588	ensembl	human	known	74_37	missense	SNP	0.001	T	T	180905047	C	T	180905047	3	4	196	1	0	0	0	0	1	0	0	0	8250	623	22	2	2020	2	KIAA1614	1	180905047	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	180905047	68345574	201	13473	215	2									
KIAA1614	57710	genome.wustl.edu	37	chr1	180905671	180905671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcacccactgctggccCtgtccaccaacaactgcaac	7	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180905671C>T	ENST00000367588.4	+	5	2681	c.2626C>T	c.(2626-2628)Ctg>Ttg	p.L876L	KIAA1614_ENST00000367587.1_Silent_p.L497L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	876										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACTGCTGGCCCTGTCCACCAA	0.687																																																	0								ENSG00000135835						32	39	36					1																	180905671		2025	4167	6192	KIAA1614	SO:0001819	synonymous_variant	0			-	HGNC	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2626C>T	1.37:g.180905671C>T		Somatic	0	46	0		0.52429534266604	8	20	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	52	16.13	Q5VZ45|Q9HCF8	Silent	SNP							NULL	p.L876	ENST00000367588.4	37	c.2626	CCDS41442.1	1																																																																																			-	NULL		0.687	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	protein_coding	OTTHUMT00000085151.1	C	XM_046531	-		180905671	1	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	SNP	0.268	T	T	180905671	C	T	180905671	2	4	196	1	0	0	0	0	0	0	0	1	8250	680	24	2		2	KIAA1614	1	180905671	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	624	180905671	68344950	202	13474											
CACNA1E	777	genome.wustl.edu	37	chr1	181701796	181701796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggggggtccctcaagggGgatggaggggaccgatccag	20	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:181701796G>A	ENST00000367573.2	+	20	2574	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G	CACNA1E_ENST00000358338.5_Silent_p.G790G|CACNA1E_ENST00000360108.3_Silent_p.G839G|CACNA1E_ENST00000526775.1_Silent_p.G839G|CACNA1E_ENST00000367567.4_Silent_p.G465G|CACNA1E_ENST00000357570.5_Silent_p.G809G|CACNA1E_ENST00000367570.1_Silent_p.G858G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	858					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						CCCTCAAGGGGGATGGAGGGG	0.672																																																	0								ENSG00000198216						12	15	14					1																	181701796		1922	4108	6030	CACNA1E	SO:0001819	synonymous_variant	0			-	HGNC	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.2574G>A	1.37:g.181701796G>A		Somatic	0	99	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	65	42.98	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G858	ENST00000367573.2	37	c.2574	CCDS55664.1	1																																																																																			-	NULL		0.672	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	G	NM_000721	-		181701796	1	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	SNP	0.566	A	A	181701796	G	A	181701796	2	1	196	1	0	0	0	0	0	0	0	1	2544	1219	43	2		2	CACNA1E	1	181701796	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	796125	181701796	67548825	203	13475											
CACNA1E	777	genome.wustl.edu	37	chr1	181767913	181767913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggggcctgggccaggcatGatgtgtggggctgtcaacaa	19	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:181767913G>A	ENST00000367573.2	+	48	6885	c.6885G>A	c.(6883-6885)atG>atA	p.M2295I	CACNA1E_ENST00000358338.5_Missense_Mutation_p.M2184I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M2276I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.M2233I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.M1859I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M2246I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M2252I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2295					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						GGCCAGGCATGATGTGTGGGG	0.622																																																	0								ENSG00000198216						20	23	22					1																	181767913		2019	4159	6178	CACNA1E	SO:0001583	missense	0			-	HGNC	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.6885G>A	1.37:g.181767913G>A	ENSP00000356545:p.Met2295Ile	Somatic	0	37	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.M2295I	ENST00000367573.2	37	c.6885	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323594	0.24080	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95885	-3.78;-3.78;-3.77;-3.78;-3.84;-3.77;-3.77	5.59	3.71	0.42584	.	0.618043	0.18641	N	0.135286	D	0.87807	0.6270	N	0.14661	0.345	0.20975	N	0.999815	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.75875	-0.3163	10	0.25751	T	0.34	.	5.8628	0.18759	0.0729:0.1382:0.6451:0.1438	.	2233;2252	Q15878-2;Q15878-3	.;.	I	2252;2233;2246;2184;1859;2276;2295	ENSP00000356542:M2252I;ENSP00000434814:M2233I;ENSP00000350183:M2246I;ENSP00000351101:M2184I;ENSP00000356539:M1859I;ENSP00000353222:M2276I;ENSP00000356545:M2295I	ENSP00000350183:M2246I	M	+	3	0	CACNA1E	180034536	0.233000	0.23772	0.995000	0.50966	0.996000	0.88848	0.307000	0.19296	0.702000	0.31825	0.563000	0.77884	ATG	-	NULL		0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	G	NM_000721	-		181767913	1	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	SNP	0.971	A	A	181767913	G	A	181767913	3	1	196	1	0	0	0	0	1	0	0	0	2544	1290	45	2	6942	2	CACNA1E	1	181767913	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	66117	181767913	67482708	204	13476											
GLT25D2	23127	genome.wustl.edu	37	chr1	183914611	183914611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcagccgatttcaccCcttgttagaggcctggagga	12	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:183914611C>T	ENST00000361927.4	-	9	1595	c.1224G>A	c.(1222-1224)agG>agA	p.R408R	COLGALT2_ENST00000546159.1_Silent_p.R408R|COLGALT2_ENST00000367521.1_Silent_p.R16R|COLGALT2_ENST00000367520.3_Silent_p.R145R	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	408					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CGATTTCACCCCTTGTTAGAG	0.458																																																	0								ENSG00000198756						140	137	138					1																	183914611		2203	4300	6503	COLGALT2	SO:0001819	synonymous_variant	0			-	HGNC	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1224G>A	1.37:g.183914611C>T		Somatic	0	70	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	58	40.21	O60327|Q9BZR0	Silent	SNP							pfam_Glyco_trans_25	p.R408	ENST00000361927.4	37	c.1224	CCDS1360.1	1																																																																																			-	pfam_Glyco_trans_25		0.458	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	protein_coding	OTTHUMT00000086128.1	C	NM_015101	-		183914611	-1	no_errors	ENST00000361927	ensembl	human	known	74_37	silent	SNP	0.890	T	T	183914611	C	T	183914611	2	4	196	1	0	0	0	0	0	0	0	1	6469	622	22	2		2	GLT25D2	1	183914611	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2146698	183914611	65336010	205	13477											
PRG4	10216	genome.wustl.edu	37	chr1	186276983	186276983	+	Missense_Mutation	SNP	G	G	A													tgctccaactacccctaaagGgactgctccaactaccctca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186276983G>A	ENST00000445192.2	+	7	2177	c.2132G>A	c.(2131-2133)gGg>gAg	p.G711E	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.G670E|PRG4_ENST00000367485.4_Missense_Mutation_p.G618E|PRG4_ENST00000367486.3_Missense_Mutation_p.G668E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	711	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G711V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAAGGGACTGCTCCA	0.587																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000116690						163	176	172					1																	186276983		2203	4300	6503	PRG4	SO:0001583	missense	0			-	HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2132G>A	1.37:g.186276983G>A	ENSP00000399679:p.Gly711Glu	Somatic	1	133	0.74		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	91	121	42.72	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP							pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.G711E	ENST00000445192.2	37	c.2132	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	2.210	-0.380902	0.05000	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05025	3.51;3.62;3.51;3.63	1.73	-3.46	0.04767	.	1.015200	0.07918	N	0.975452	T	0.01976	0.0062	N	0.02315	-0.6	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	0.45731	-0.9241	9	.	.	.	.	3.0448	0.06149	0.5619:0.0:0.2398:0.1983	.	577;618;711;670	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	668;577;670;618;711	ENSP00000356456:G668E;ENSP00000356453:G670E;ENSP00000356455:G618E;ENSP00000399679:G711E	.	G	+	2	0	PRG4	184543606	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.696000	0.00827	-1.321000	0.02281	0.064000	0.15345	GGG	-	NULL		0.587	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	G	NM_005807	-		186276983	1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	SNP	0.000	A	A	186276983	G	A	186276983	3	1	196	1	0	0	0	0	1	0	0	0	12486	1232	43	2	2154	2	PRG4	1	186276983	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2362372	186276983	62973638	206	13478	216	2									
PRG4	10216	genome.wustl.edu	37	chr1	186276984	186276984	+	Silent	SNP	G	G	A													gctccaactacccctaaaggGactgctccaactaccctcaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186276984G>A	ENST00000445192.2	+	7	2178	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.G670G|PRG4_ENST00000367485.4_Silent_p.G618G|PRG4_ENST00000367486.3_Silent_p.G668G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	711	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCCTAAAGGGACTGCTCCAA	0.587																																																	0								ENSG00000116690						164	177	172					1																	186276984		2203	4300	6503	PRG4	SO:0001819	synonymous_variant	0			-	HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2133G>A	1.37:g.186276984G>A		Somatic	0	134	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	91	127	41.74	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP							pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.G711	ENST00000445192.2	37	c.2133	CCDS1369.1	1																																																																																			-	NULL		0.587	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	G	NM_005807	-		186276984	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	SNP	0.001	A	A	186276984	G	A	186276984	2	1	196	1	0	0	0	0	0	0	0	1	12486	1161	41	2		2	PRG4	1	186276984	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	186276984	62973637	207	13479	216	2									
C1orf27	54953	genome.wustl.edu	37	chr1	186363086	186363086	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgttttttcagaaaaaatCttctagaggaaatactcaag	7	5	4	2	rs556420947		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186363086C>T	ENST00000287859.6	+	9	844	c.719C>T	c.(718-720)tCt>tTt	p.S240F	C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Missense_Mutation_p.S208F|C1orf27_ENST00000367470.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	240						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAGAAAAAATCTTCTAGAGGA	0.274																																																	0								ENSG00000157181						25	24	24					1																	186363086		1662	3736	5398	C1orf27	SO:0001583	missense	0			-	HGNC	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.719C>T	1.37:g.186363086C>T	ENSP00000287859:p.Ser240Phe	Somatic	0	59	0		0.52429534266604	12	14.29	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	46	30.30	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP							NULL	p.S240F	ENST00000287859.6	37	c.719	CCDS53448.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611429	0.46631	.	.	ENSG00000157181	ENST00000419367;ENST00000432021;ENST00000287859	T;T	0.50548	0.74;0.78	3.56	3.56	0.40772	.	0.256502	0.27064	U	0.021116	T	0.58061	0.2096	L	0.53249	1.67	0.35901	D	0.830363	D;D	0.76494	0.999;0.996	D;D	0.69479	0.964;0.914	T	0.66440	-0.5923	10	0.56958	D	0.05	.	8.4191	0.32690	0.0:0.8828:0.0:0.1172	.	208;240	E9PFR7;Q5SWX8	.;ODR4_HUMAN	F	208;240;240	ENSP00000395084:S208F;ENSP00000287859:S240F	ENSP00000287859:S240F	S	+	2	0	C1orf27	184629709	0.998000	0.40836	0.664000	0.29753	0.972000	0.66771	2.979000	0.49313	1.548000	0.49413	0.448000	0.29417	TCT	-	NULL		0.274	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C1orf27	protein_coding	OTTHUMT00000086352.2	C	NM_017847	-		186363086	1	no_errors	ENST00000287859	ensembl	human	known	74_37	missense	SNP	0.526	T	T	186363086	C	T	186363086	3	4	196	1	0	0	0	0	1	0	0	0	2038	913	32	2	749	2	C1orf27	1	186363086	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	86102	186363086	62887535	208	13480											
PLA2G4A	5321	genome.wustl.edu	37	chr1	186862187	186862187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttttatctctacaaccCctgacagcaggaagagaaca	6	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186862187C>T	ENST00000367466.3	+	4	312	c.160C>T	c.(160-162)Cct>Tct	p.P54S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P54S|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	54	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CTCTACAACCCCTGACAGCAG	0.358																																																	0								ENSG00000116711						153	152	152					1																	186862187		2203	4300	6503	PLA2G4A	SO:0001583	missense	0			-	HGNC	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.160C>T	1.37:g.186862187C>T	ENSP00000356436:p.Pro54Ser	Somatic	0	95	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	91	17.27	B1AKG4|Q29R80	Missense_Mutation	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P54S	ENST00000367466.3	37	c.160	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189737	0.78789	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.63096	-0.02;-0.02	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68036	-0.5515	10	0.30078	T	0.28	-14.6312	18.7927	0.91980	0.0:1.0:0.0:0.0	.	54;54	E7EU42;P47712	.;PA24A_HUMAN	S	54	ENSP00000356436:P54S;ENSP00000406892:P54S	ENSP00000356436:P54S	P	+	1	0	PLA2G4A	185128810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.187000	0.77730	2.676000	0.91093	0.655000	0.94253	CCT	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	protein_coding	OTTHUMT00000086236.1	C	NM_024420	-		186862187	1	no_errors	ENST00000367466	ensembl	human	known	74_37	missense	SNP	1.000	T	T	186862187	C	T	186862187	3	4	196	1	0	0	0	0	1	0	0	0	12003	623	22	2	170	2	PLA2G4A	1	186862187	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	499101	186862187	62388434	209	13481											
KCNT2	343450	genome.wustl.edu	37	chr1	196398872	196398872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctattcgttccagatgTtggatcccacaaatgctaaa	6	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:196398872T>C	ENST00000294725.9	-	9	1569	c.654A>G	c.(652-654)caA>caG	p.Q218Q	KCNT2_ENST00000367433.5_Silent_p.Q218Q|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.Q218Q|KCNT2_ENST00000609185.1_Silent_p.Q218Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	218					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)			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						GTTCCAGATGTTGGATCCCAC	0.373																																																	0								ENSG00000162687						67	63	65					1																	196398872		2203	4299	6502	KCNT2	SO:0001819	synonymous_variant	0			-	HGNC	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.654A>G	1.37:g.196398872T>C		Somatic	0	127	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	97	29.71	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.Q218	ENST00000294725.9	37	c.654	CCDS1384.1	1																																																																																			-	pfam_2pore_dom_K_chnl_dom		0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	T	NM_198503	-		196398872	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	silent	SNP	0.977	C	C	196398872	T	C	196398872	2	2	196	1	0	0	0	0	0	0	0	1	8094	1722	60	5		5	KCNT2	1	196398872	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	9536685	196398872	52851749	210	13482											
PTPRC	5788	genome.wustl.edu	37	chr1	198685878	198685878	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaatttaaaaccttatacGaaatatgttttatcattaca	2	6	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:198685878G>A	ENST00000367376.2	+	13	1524	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_ENST00000352140.3_Silent_p.T403T|PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000348564.6_Silent_p.T292T|PTPRC_ENST00000594404.1_Silent_p.T290T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308																																																	0								ENSG00000081237						63	66	65					1																	198685878		2203	4299	6502	PTPRC	SO:0001819	synonymous_variant	0			-	HGNC	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1353G>A	1.37:g.198685878G>A		Somatic	0	53	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	A8K7W6|Q16614|Q9H0Y6	Silent	SNP							pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T453	ENST00000367376.2	37	c.1359		1																																																																																			-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.308	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	protein_coding		G		-		198685878	1	no_errors	ENST00000442510	ensembl	human	known	74_37	silent	SNP	0.001	A	A	198685878	G	A	198685878	2	1	196	1	0	0	0	0	0	0	0	1	12805	1045	37	1		1	PTPRC	1	198685878	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2287006	198685878	50564743	211	13483											
ZNF281	23528	genome.wustl.edu	37	chr1	200376611	200376611	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaagacctggctgagatccAaacaacatcccaaaaggagg	9	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:200376611A>T	ENST00000294740.3	-	2	2347	c.2223T>A	c.(2221-2223)ttT>ttA	p.F741L	ZNF281_ENST00000367352.3_Missense_Mutation_p.F705L|ZNF281_ENST00000367353.1_Missense_Mutation_p.F741L	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	741					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|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)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GCTGAGATCCAAACAACATCC	0.448																																																	0								ENSG00000162702						65	64	64					1																	200376611		2203	4300	6503	ZNF281	SO:0001583	missense	0			-	HGNC	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2223T>A	1.37:g.200376611A>T	ENSP00000294740:p.Phe741Leu	Somatic	0	70	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	68	25.27	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F741L	ENST00000294740.3	37	c.2223	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	A	9.046	0.990846	0.18966	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.39997	1.05;1.05;1.05	5.44	4.32	0.51571	.	0.265483	0.36374	N	0.002635	T	0.12347	0.0300	N	0.00538	-1.39	0.34613	D	0.717781	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07908	-1.0748	10	0.23891	T	0.37	-1.0171	7.1856	0.25797	0.7792:0.1466:0.0742:0.0	.	705;741	A6NF48;Q9Y2X9	.;ZN281_HUMAN	L	741;741;705;446	ENSP00000294740:F741L;ENSP00000356322:F741L;ENSP00000356321:F705L	ENSP00000294740:F741L	F	-	3	2	ZNF281	198643234	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.904000	0.56325	0.911000	0.36747	0.533000	0.62120	TTT	-	NULL		0.448	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	protein_coding	OTTHUMT00000086879.2	A	NM_012482	-		200376611	-1	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	SNP	1.000	T	T	200376611	A	T	200376611	3	4	196	1	0	0	0	0	1	0	0	0	17825	127	5	5	468	5	ZNF281	1	200376611	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1690733	200376611	48874010	212	13484											
C1orf106	55765	genome.wustl.edu	37	chr1	200880854	200880854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcaccgcggggcctgggtCccagccggcagcagagagct	16	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:200880854C>T	ENST00000367342.4	+	9	1688	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	C1orf106_ENST00000413687.2_Silent_p.V411V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	496										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGGCCTGGGTCCCAGCCGGCA	0.697																																																	0								ENSG00000163362						31	35	34					1																	200880854		2202	4299	6501	C1orf106	SO:0001819	synonymous_variant	0			-	HGNC	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1488C>T	1.37:g.200880854C>T		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	31	46.55	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP							pfam_DUF3338	p.V496	ENST00000367342.4	37	c.1488		1																																																																																			-	NULL		0.697	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	protein_coding	OTTHUMT00000087057.2	C	NM_018265	-		200880854	1	no_errors	ENST00000367342	ensembl	human	known	74_37	silent	SNP	0.077	T	T	200880854	C	T	200880854	2	4	196	1	0	0	0	0	0	0	0	1	1982	842	30	2		2	C1orf106	1	200880854	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	504243	200880854	48369767	213	13485											
KIF21B	23046	genome.wustl.edu	37	chr1	200959146	200959146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaggagctgatgaccacgGatgtgtctgtggagtccagc	15	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:200959146G>A	ENST00000422435.2	-	21	3372	c.3056C>T	c.(3055-3057)tCc>tTc	p.S1019F	KIF21B_ENST00000360529.5_Missense_Mutation_p.S1019F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S1019F|KIF21B_ENST00000332129.2_Missense_Mutation_p.S1019F	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1019					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGACCACGGATGTGTCTGT	0.632																																																	0								ENSG00000116852						69	64	65					1																	200959146		2203	4300	6503	KIF21B	SO:0001583	missense	0			-	HGNC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3056C>T	1.37:g.200959146G>A	ENSP00000411831:p.Ser1019Phe	Somatic	0	24	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.33	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S1019F	ENST00000422435.2	37	c.3056	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378812	0.61735	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.92	4.92	0.64577	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.91663	0.7365	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.83275	0.991;0.996;0.991;0.996	D	0.92592	0.6084	10	0.72032	D	0.01	.	18.1472	0.89661	0.0:0.0:1.0:0.0	.	1019;1019;1019;1019	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	F	1019	ENSP00000328494:S1019F;ENSP00000353724:S1019F;ENSP00000433808:S1019F;ENSP00000411831:S1019F	ENSP00000328494:S1019F	S	-	2	0	KIF21B	199225769	1.000000	0.71417	0.063000	0.19743	0.484000	0.33280	5.704000	0.68347	2.280000	0.76307	0.655000	0.94253	TCC	-	superfamily_Prefoldin		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	protein_coding	OTTHUMT00000382635.1	G	XM_371332	-		200959146	-1	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	SNP	0.855	A	A	200959146	G	A	200959146	3	1	196	1	0	0	0	0	1	0	0	0	8291	1174	41	2	1874	2	KIF21B	1	200959146	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	78292	200959146	48291475	214	13486											
CACNA1S	779	genome.wustl.edu	37	chr1	201013474	201013474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggaatattccctcctcCatcgcagcctccaccatggc	6	19	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:201013474C>T	ENST00000362061.3	-	39	5005	c.4779G>A	c.(4777-4779)atG>atA	p.M1593I	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1574I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1593					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)	TTCCCTCCTCCATCGCAGCCT	0.622																																																	0								ENSG00000081248						85	70	75					1																	201013474		2203	4300	6503	CACNA1S	SO:0001583	missense	0			-	HGNC	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.4779G>A	1.37:g.201013474C>T	ENSP00000355192:p.Met1593Ile	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.M1593I	ENST00000362061.3	37	c.4779	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.673690	0.29693	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95885	-3.84;-3.77	4.98	4.06	0.47325	.	0.903651	0.09449	N	0.800638	D	0.92179	0.7520	L	0.33189	0.99	0.38263	D	0.941932	B	0.02656	0.0	B	0.06405	0.002	D	0.85723	0.1326	10	0.39692	T	0.17	.	12.6162	0.56578	0.301:0.699:0.0:0.0	.	1593	Q13698	CAC1S_HUMAN	I	1593;1574	ENSP00000355192:M1593I;ENSP00000356307:M1574I	ENSP00000355192:M1593I	M	-	3	0	CACNA1S	199280097	0.997000	0.39634	0.997000	0.53966	0.972000	0.66771	1.696000	0.37773	1.076000	0.40961	0.555000	0.69702	ATG	-	NULL		0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	C	NM_000069	-		201013474	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	SNP	0.969	T	T	201013474	C	T	201013474	3	4	196	1	0	0	0	0	1	0	0	0	2549	594	21	2	866	2	CACNA1S	1	201013474	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	54328	201013474	48237147	215	13487											
LAD1	3898	genome.wustl.edu	37	chr1	201356224	201356224	+	Missense_Mutation	SNP	G	G	A													ccgctcctgccgtgttctgaGgatgctctggatgtcctcgt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:201356224G>A	ENST00000391967.2	-	3	566	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	LAD1_ENST00000367313.3_Missense_Mutation_p.L103F	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	89						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CGTGTTCTGAGGATGCTCTGG	0.622																																																	0								ENSG00000159166						41	39	40					1																	201356224		2203	4300	6503	LAD1	SO:0001583	missense	0			-	HGNC	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.265C>T	1.37:g.201356224G>A	ENSP00000375829:p.Leu89Phe	Somatic	0	26	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	O95614|Q96GD8	Missense_Mutation	SNP							pirsf_Ladinin_1	p.L103F	ENST00000391967.2	37	c.307	CCDS1410.1	1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697322	0.68386	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.29397	1.65;1.57	4.96	4.96	0.65561	.	0.079354	0.51477	D	0.000087	T	0.51907	0.1702	M	0.67953	2.075	0.34933	D	0.74959	D;D	0.76494	0.998;0.999	D;D	0.71656	0.974;0.972	T	0.65076	-0.6256	10	0.56958	D	0.05	-13.7142	13.6891	0.62535	0.0:0.0:1.0:0.0	.	103;89	E9PDI4;O00515	.;LAD1_HUMAN	F	89;103	ENSP00000375829:L89F;ENSP00000356282:L103F	ENSP00000356282:L103F	L	-	1	0	LAD1	199622847	0.129000	0.22400	0.929000	0.37066	0.566000	0.35808	1.593000	0.36686	2.293000	0.77203	0.563000	0.77884	CTC	-	pirsf_Ladinin_1		0.622	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	protein_coding	OTTHUMT00000086946.1	G	NM_005558	-		201356224	-1	no_errors	ENST00000367313	ensembl	human	known	74_37	missense	SNP	0.978	A	A	201356224	G	A	201356224	3	1	196	1	0	0	0	0	1	0	0	0	8601	1000	35	2	1320	2	LAD1	1	201356224	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	342750	201356224	47894397	216	13488	217	2									
LAD1	3898	genome.wustl.edu	37	chr1	201356225	201356225	+	Silent	SNP	G	G	A													cgctcctgccgtgttctgagGatgctctggatgtcctcgtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:201356225G>A	ENST00000391967.2	-	3	565	c.264C>T	c.(262-264)atC>atT	p.I88I	LAD1_ENST00000367313.3_Silent_p.I102I	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	88						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GTGTTCTGAGGATGCTCTGGA	0.627																																																	0								ENSG00000159166						41	40	40					1																	201356225		2203	4300	6503	LAD1	SO:0001819	synonymous_variant	0			-	HGNC	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.264C>T	1.37:g.201356225G>A		Somatic	0	26	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	O95614|Q96GD8	Silent	SNP							pirsf_Ladinin_1	p.I102	ENST00000391967.2	37	c.306	CCDS1410.1	1																																																																																			-	pirsf_Ladinin_1		0.627	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	protein_coding	OTTHUMT00000086946.1	G	NM_005558	-		201356225	-1	no_errors	ENST00000367313	ensembl	human	known	74_37	silent	SNP	0.976	A	A	201356225	G	A	201356225	2	1	196	1	0	0	0	0	0	0	0	1	8601	1164	41	2		2	LAD1	1	201356225	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	201356225	47894396	217	13489	217	2									
PTPN7	5778	genome.wustl.edu	37	chr1	202127347	202127347	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaaagtgtagggtgacctCccggggtgtgttcacagagc	15	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202127347C>A	ENST00000308986.5	-	3	335	c.205G>T	c.(205-207)Gag>Tag	p.E69*	PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Nonsense_Mutation_p.E108*|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Nonsense_Mutation_p.E174*			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	69					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AGGGTGACCTCCCGGGGTGTG	0.627																																																	0								ENSG00000143851						59	60	60					1																	202127347		2203	4300	6503	PTPN7	SO:0001587	stop_gained	0			-	HGNC	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.205G>T	1.37:g.202127347C>A	ENSP00000311133:p.Glu69*	Somatic	0	83	0		0.52429534266604	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	76	40.31	B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Nonsense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E174*	ENST00000308986.5	37	c.520		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.784124|5.784124	0.96937|0.96937	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451|ENST00000435759	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.092788|.	0.46758|.	D|.	0.000267|.	.|T	.|0.77432	.|0.4129	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80661	.|-0.1283	.|5	0.24483|0.72032	T|D	0.36|0.01	.|.	18.3525|18.3525	0.90343|0.90343	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	108;174;69;150;68;69;69;69;69|75	.|.	ENSP00000311133:E69X|ENSP00000406042:G75V	E|G	-|-	1|2	0|0	PTPN7|PTPN7	200393970|200393970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.559000|0.559000	0.35586|0.35586	6.801000|6.801000	0.75170|0.75170	2.330000|2.330000	0.79161|0.79161	0.462000|0.462000	0.41574|0.41574	GAG|GGA	-	prints_Tyr_Pase_KIM-con		0.627	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	protein_coding		C	NM_002832	-		202127347	-1	no_errors	ENST00000309017	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	202127347	C	A	202127347	4	1	196	1	0	0	0	0	0	1	0	0	12801	864	30	3	909	3	PTPN7	1	202127347	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	771122	202127347	47123274	218	13490											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202318211	202318211	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgacgaggtgagaaagcttCtggcaagaggtgctgatatc	14	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202318211C>T	ENST00000608999.1	+	1	385	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	PPP1R12B_ENST00000356764.2_Silent_p.L78L|PPP1R12B_ENST00000336894.4_Silent_p.L78L|PPP1R12B_ENST00000480184.1_Silent_p.L78L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	78					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGAAAGCTTCTGGCAAGAGG	0.612																																																	0								ENSG00000077157						43	39	40					1																	202318211		2202	4300	6502	PPP1R12B	SO:0001819	synonymous_variant	0			-	HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.232C>T	1.37:g.202318211C>T		Somatic	0	12	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L78	ENST00000608999.1	37	c.232	CCDS1426.1	1																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom		0.612	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	C	NM_032105	-		202318211	1	no_errors	ENST00000336894	ensembl	human	known	74_37	silent	SNP	0.965	T	T	202318211	C	T	202318211	2	4	196	1	0	0	0	0	0	0	0	1	12360	912	32	2		2	PPP1R12B	1	202318211	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	190864	202318211	46932410	219	13491											
ADIPOR1	51094	genome.wustl.edu	37	chr1	202914123	202914123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactcacttggaaaaagtcCgagagactttctctgaatga	8	8	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202914123C>T	ENST00000340990.5	-	5	903	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R202Q	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	202					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGAAAAAGTCCGAGAGACTTT	0.448																																																	0								ENSG00000159346						125	132	130					1																	202914123		2203	4300	6503	ADIPOR1	SO:0001583	missense	0			-	HGNC		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.605G>A	1.37:g.202914123C>T	ENSP00000341785:p.Arg202Gln	Somatic	0	49	0		0.52429534266604	117	29.76	50	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	37	47.14	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP							pfam_HlyIII-related	p.R202Q	ENST00000340990.5	37	c.605	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843750	0.71488	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.17	4.33	0.51752	.	0.049065	0.85682	N	0.000000	T	0.30854	0.0778	L	0.60957	1.885	0.80722	D	1	B	0.15719	0.014	B	0.19391	0.025	T	0.05370	-1.0889	10	0.34782	T	0.22	.	12.0707	0.53616	0.0:0.8609:0.0:0.1391	.	202	Q96A54	ADR1_HUMAN	Q	202	ENSP00000341785:R202Q;ENSP00000395469:R202Q;ENSP00000402178:R202Q;ENSP00000392946:R202Q	ENSP00000341785:R202Q	R	-	2	0	ADIPOR1	201180746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.805000	0.86005	0.955000	0.37878	-0.140000	0.14226	CGG	-	pfam_HlyIII-related		0.448	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	protein_coding	OTTHUMT00000099160.2	C	NM_015999	-		202914123	-1	no_errors	ENST00000340990	ensembl	human	known	74_37	missense	SNP	1.000	T	T	202914123	C	T	202914123	3	4	196	1	0	0	0	0	1	0	0	0	318	652	23	1	538	1	ADIPOR1	1	202914123	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	595912	202914123	46336498	220	13492											
CHI3L1	1116	genome.wustl.edu	37	chr1	203148986	203148986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggattctatggactgtggctCcgcggaggaagtcacagatc	14	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:203148986C>T	ENST00000255409.3	-	9	1039	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	305					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GACTGTGGCTCCGCGGAGGAA	0.567																																																	0								ENSG00000133048						128	111	117					1																	203148986		2203	4300	6503	CHI3L1	SO:0001583	missense	0			-	HGNC	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.914G>A	1.37:g.203148986C>T	ENSP00000255409:p.Gly305Glu	Somatic	0	16	0		0.52429534266604	370	59.36	542	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	16	52.94	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP							pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.G305E	ENST00000255409.3	37	c.914	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292035	0.59976	.	.	ENSG00000133048	ENST00000255409	T	0.49139	0.79	4.73	4.73	0.59995	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.51477	D	0.000100	T	0.70290	0.3207	M	0.84082	2.675	0.52501	D	0.999957	D;D	0.67145	0.996;0.996	D;D	0.72338	0.912;0.977	T	0.76052	-0.3100	10	0.72032	D	0.01	-5.8233	15.206	0.73180	0.0:1.0:0.0:0.0	.	41;305	B3KTE6;P36222	.;CH3L1_HUMAN	E	305	ENSP00000255409:G305E	ENSP00000255409:G305E	G	-	2	0	CHI3L1	201415609	0.122000	0.22280	0.550000	0.28217	0.853000	0.48598	1.768000	0.38511	2.161000	0.67846	0.313000	0.20887	GGA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.567	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	protein_coding	OTTHUMT00000100265.1	C	NM_001276	-		203148986	-1	no_errors	ENST00000255409	ensembl	human	known	74_37	missense	SNP	0.998	T	T	203148986	C	T	203148986	3	4	196	1	0	0	0	0	1	0	0	0	3342	855	30	2	245	2	CHI3L1	1	203148986	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	234863	203148986	46101635	221	13493											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204438496	204438496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaagagccctctatgtcCcctggtcctggggacgaaga	12	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:204438496C>T	ENST00000367187.3	-	3	991	c.435G>A	c.(433-435)ggG>ggA	p.G145G	PIK3C2B_ENST00000424712.2_Silent_p.G145G	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	145	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCTCTATGTCCCCTGGTCCTG	0.582																																																	0								ENSG00000133056						47	53	51					1																	204438496		2203	4300	6503	PIK3C2B	SO:0001819	synonymous_variant	0			-	HGNC	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.435G>A	1.37:g.204438496C>T		Somatic	0	26	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	O95666|Q5SW99	Silent	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.G145	ENST00000367187.3	37	c.435	CCDS1446.1	1																																																																																			-	NULL		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	protein_coding	OTTHUMT00000087965.1	C	NM_002646	-		204438496	-1	no_errors	ENST00000367187	ensembl	human	known	74_37	silent	SNP	0.001	T	T	204438496	C	T	204438496	2	4	196	1	0	0	0	0	0	0	0	1	11912	610	22	2		2	PIK3C2B	1	204438496	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1289510	204438496	44812125	222	13494											
C4BPA	722	genome.wustl.edu	37	chr1	207317960	207317960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcccaaacccagaggaTgtgaaaatggccctggaggt	12	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:207317960T>C	ENST00000367070.3	+	12	1886	c.1692T>C	c.(1690-1692)gaT>gaC	p.D564D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	564					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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACCCAGAGGATGTGAAAATGG	0.458																																																	0								ENSG00000123838						59	58	59					1																	207317960		2203	4300	6503	C4BPA	SO:0001819	synonymous_variant	0			-	HGNC	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1692T>C	1.37:g.207317960T>C		Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	117	11.36	Q5VVQ8	Silent	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D564	ENST00000367070.3	37	c.1692	CCDS1477.1	1																																																																																			-	NULL		0.458	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	protein_coding	OTTHUMT00000088089.3	T		-		207317960	1	no_errors	ENST00000367070	ensembl	human	known	74_37	silent	SNP	0.056	C	C	207317960	T	C	207317960	2	2	196	1	0	0	0	0	0	0	0	1	2251	1461	51	5		5	C4BPA	1	207317960	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2879464	207317960	41932661	223	13495											
CR2	1380	genome.wustl.edu	37	chr1	207647600	207647600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtaggtaccagttgactgGacatgcttatcagatgtgtc	11	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:207647600G>A	ENST00000367058.3	+	12	2267	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	CR2_ENST00000458541.2_Missense_Mutation_p.G666E|CR2_ENST00000367059.3_Missense_Mutation_p.G693E|CR2_ENST00000367057.3_Missense_Mutation_p.G752E	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	693	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGTTGACTGGACATGCTTAT	0.353																																																	0								ENSG00000117322						131	140	137					1																	207647600		2203	4300	6503	CR2	SO:0001583	missense	0			-	HGNC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2078G>A	1.37:g.207647600G>A	ENSP00000356025:p.Gly693Glu	Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	74	28.85	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G752E	ENST00000367058.3	37	c.2255	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827434	0.32329	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.66	2.73	0.32206	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81800	0.4899	M	0.83774	2.66	0.40008	D	0.975257	D;D;D	0.71674	0.991;0.998;0.981	D;D;P	0.70227	0.959;0.968;0.897	T	0.81722	-0.0803	9	0.62326	D	0.03	.	8.4488	0.32858	0.2531:0.0:0.7469:0.0	.	693;693;752	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	E	693;752;693;666	ENSP00000356025:G693E;ENSP00000356024:G752E;ENSP00000356026:G693E;ENSP00000404222:G666E	ENSP00000356024:G752E	G	+	2	0	CR2	205714223	0.714000	0.27936	0.588000	0.28705	0.104000	0.19210	0.763000	0.26517	0.731000	0.32448	0.655000	0.94253	GGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.353	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	protein_coding	OTTHUMT00000088274.1	G	NM_001877	-		207647600	1	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	SNP	0.552	A	A	207647600	G	A	207647600	3	1	196	1	0	0	0	0	1	0	0	0	3844	1174	41	2	2305	2	CR2	1	207647600	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	329640	207647600	41603021	224	13496											
CR1	1378	genome.wustl.edu	37	chr1	207751155	207751155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtctcttttccaggaattCcttgtgggctacccccaacc	7	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:207751155C>T	ENST00000367049.4	+	29	4543	c.4543C>T	c.(4543-4545)Cct>Tct	p.P1515S	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.P1065S|CR1_ENST00000367051.1_Missense_Mutation_p.P1065S|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1065S|CR1_ENST00000367053.1_Missense_Mutation_p.P1065S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1065	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						TCCAGGAATTCCTTGTGGGCT	0.483																																																	0								ENSG00000203710						112	99	103					1																	207751155		1874	4114	5988	CR1	SO:0001583	missense	0			-	HGNC	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.4543C>T	1.37:g.207751155C>T	ENSP00000356016:p.Pro1515Ser	Somatic	0	142	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	185	12.74	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P1515S	ENST00000367049.4	37	c.4543	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559494	0.27827	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	2.84	-0.396	0.12427	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.12178	0.0296	N	0.11651	0.15	0.09310	N	1	B;P;D	0.59357	0.143;0.928;0.985	B;B;P	0.52710	0.011;0.38;0.707	T	0.11084	-1.0602	9	0.09338	T	0.73	.	3.4752	0.07582	0.4427:0.4224:0.0:0.1349	.	1065;1065;1515	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	S	1065;1065;1065;1065;615;1515	ENSP00000356019:P1065S;ENSP00000356018:P1065S;ENSP00000356020:P1065S;ENSP00000383744:P1065S;ENSP00000436139:P615S;ENSP00000356016:P1515S	ENSP00000356016:P1515S	P	+	1	0	CR1	205817778	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.175000	0.09825	-0.066000	0.12998	-0.302000	0.09304	CCT	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	protein_coding	OTTHUMT00000382527.1	C	NM_000573	-		207751155	1	no_errors	ENST00000367049	ensembl	human	known	74_37	missense	SNP	0.010	T	T	207751155	C	T	207751155	3	4	196	1	0	0	0	0	1	0	0	0	3842	855	30	2	4657	2	CR1	1	207751155	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	103555	207751155	41499466	225	13497											
CD34	947	genome.wustl.edu	37	chr1	208062945	208062945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgggccaggccctctcCcctgtccttcttaaactccg	7	19	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:208062945C>T	ENST00000310833.7	-	5	940	c.619G>A	c.(619-621)Gga>Aga	p.G207R	CD34_ENST00000537704.1_Missense_Mutation_p.G72R|CD34_ENST00000367036.3_Missense_Mutation_p.G49R|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.G207R	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	207					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						AGGCCCTCTCCCCTGTCCTTC	0.577																																																	0								ENSG00000174059						75	74	74					1																	208062945		2203	4300	6503	CD34	SO:0001583	missense	0			-	HGNC	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.619G>A	1.37:g.208062945C>T	ENSP00000310036:p.Gly207Arg	Somatic	0	55	0		0.52429534266604	98	1.01	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	36.00	A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP							pfam_CD34/Podocalyxin,prints_CD34	p.G207R	ENST00000310833.7	37	c.619	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375508	0.42105	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.22539	2.44;2.44;1.95;2.44	5.38	5.38	0.77491	.	0.451539	0.24191	N	0.040719	T	0.42988	0.1227	M	0.61703	1.905	0.19945	N	0.999947	D;D;D;D	0.89917	0.993;1.0;0.997;0.993	D;D;D;D	0.68943	0.919;0.961;0.96;0.919	T	0.27365	-1.0076	10	0.72032	D	0.01	-1.9379	14.6516	0.68800	0.0:1.0:0.0:0.0	.	72;207;207;49	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	R	207;207;49;72;177	ENSP00000310036:G207R;ENSP00000348916:G207R;ENSP00000356003:G49R;ENSP00000442874:G72R	ENSP00000310036:G207R	G	-	1	0	CD34	206129568	0.041000	0.20044	0.012000	0.15200	0.009000	0.06853	3.464000	0.53057	2.520000	0.84964	0.650000	0.86243	GGA	-	pfam_CD34/Podocalyxin		0.577	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	protein_coding	OTTHUMT00000088933.1	C	NM_001773	-		208062945	-1	no_errors	ENST00000310833	ensembl	human	known	74_37	missense	SNP	0.029	T	T	208062945	C	T	208062945	3	4	196	1	0	0	0	0	1	0	0	0	3008	632	22	2	573	2	CD34	1	208062945	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	311790	208062945	41187676	226	13498											
G0S2	50486	genome.wustl.edu	37	chr1	209849252	209849252	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgccctggagcgacaggctCtccagaagcaagccctgcag	12	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:209849252C>T	ENST00000367029.4	+	2	385	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	75					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GCGACAGGCTCTCCAGAAGCA	0.687																																																	0								ENSG00000123689						15	18	17					1																	209849252		2199	4293	6492	G0S2	SO:0001583	missense	0			-	HGNC		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"putative lymphocyte G0/G1 switch gene"	614447	"G0/G1switch 2"			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.223C>T	1.37:g.209849252C>T	ENSP00000355996:p.Leu75Phe	Somatic	0	42	0		0.52429534266604	18	53.85	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	46	41.03	Q6FGC8	Missense_Mutation	SNP							NULL	p.L75F	ENST00000367029.4	37	c.223	CCDS1488.1	1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297538	0.60086	.	.	ENSG00000123689	ENST00000367029	.	.	.	4.16	0.883	0.19177	.	1.335560	0.06034	U	0.653717	T	0.33876	0.0878	L	0.27053	0.805	0.09310	N	1	D	0.54207	0.965	P	0.51135	0.66	T	0.30534	-0.9975	9	0.46703	T	0.11	-1.4981	6.1896	0.20516	0.1401:0.6504:0.1236:0.0859	.	75	P27469	G0S2_HUMAN	F	75	.	ENSP00000355996:L75F	L	+	1	0	G0S2	207915875	0.000000	0.05858	0.003000	0.11579	0.747000	0.42532	-0.034000	0.12225	0.749000	0.32854	0.313000	0.20887	CTC	-	NULL		0.687	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G0S2	protein_coding	OTTHUMT00000088732.1	C	NM_015714	-		209849252	1	no_errors	ENST00000367029	ensembl	human	known	74_37	missense	SNP	0.000	T	T	209849252	C	T	209849252	3	4	196	1	0	0	0	0	1	0	0	0	6141	913	32	2	225	2	G0S2	1	209849252	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1786307	209849252	39401369	227	13499											
NENF	29937	genome.wustl.edu	37	chr1	212617712	212617712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggagccccctacaatgcCttgacggggaaggactccac	12	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:212617712C>T	ENST00000366988.3	+	3	327	c.270C>T	c.(268-270)gcC>gcT	p.A90A	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	90	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTACAATGCCTTGACGGGGA	0.512																																																	0								ENSG00000117691						85	76	79					1																	212617712		2203	4300	6503	NENF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"neudesin"	611874	"neuron derived neurotrophic factor"			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.270C>T	1.37:g.212617712C>T		Somatic	0	77	0		0.52429534266604	602	45.87	511	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	51	47.42	A1KYQ8|Q53FZ6|Q5TM90	Silent	SNP							pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	p.A90	ENST00000366988.3	37	c.270	CCDS1505.1	1																																																																																			-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd		0.512	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NENF	protein_coding	OTTHUMT00000089291.1	C	NM_013349	-		212617712	1	no_errors	ENST00000366988	ensembl	human	known	74_37	silent	SNP	0.999	T	T	212617712	C	T	212617712	2	4	196	1	0	0	0	0	0	0	0	1	10337	668	24	2		2	NENF	1	212617712	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2768460	212617712	36632909	228	13500											
PTPN14	5784	genome.wustl.edu	37	chr1	214556693	214556693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctataatgctgtcttccagGgaaaacatttcagacacagg	8	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:214556693G>A	ENST00000366956.5	-	13	2699	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	835					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)		TGTCTTCCAGGGAAAACATTT	0.517																																					Colon(92;557 1424 24372 34121 40073)												0								ENSG00000152104						92	87	89					1																	214556693		2203	4300	6503	PTPN14	SO:0001819	synonymous_variant	0			-	HGNC	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.2505C>T	1.37:g.214556693G>A		Somatic	0	37	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	Q5VSI0	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.S835	ENST00000366956.5	37	c.2505	CCDS1514.1	1																																																																																			-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.517	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	protein_coding	OTTHUMT00000089918.2	G	NM_005401	-		214556693	-1	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	SNP	1.000	A	A	214556693	G	A	214556693	2	1	196	1	0	0	0	0	0	0	0	1	12789	1219	43	2		2	PTPN14	1	214556693	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1938981	214556693	34693928	229	13501											
USH2A	7399	genome.wustl.edu	37	chr1	215990402	215990402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttttgacacctcactgcCttgcagagctcatcactctg	8	13	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:215990402C>T	ENST00000307340.3	-	48	9893	c.9507G>A	c.(9505-9507)aaG>aaA	p.K3169K	USH2A_ENST00000366943.2_Silent_p.K3169K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3169	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTCACTGCCTTGCAGAGCT	0.393										HNSCC(13;0.011)																																							0								ENSG00000042781						168	153	158					1																	215990402		2203	4299	6502	USH2A	SO:0001819	synonymous_variant	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9507G>A	1.37:g.215990402C>T		Somatic	0	53	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.82	Q5VVM9|Q6S362|Q9NS27	Silent	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K3169	ENST00000307340.3	37	c.9507	CCDS31025.1	1																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123	-		215990402	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	SNP	0.000	T	T	215990402	C	T	215990402	2	4	196	1	0	0	0	0	0	0	0	1	17043	680	24	2		2	USH2A	1	215990402	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1433709	215990402	33260219	230	13502											
USH2A	7399	genome.wustl.edu	37	chr1	216270490	216270490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatactcttcctgatTgccaggtgatgctgcaaaga	9	9	1	3	rs185194181	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:216270490T>G	ENST00000307340.3	-	22	5079	c.4693A>C	c.(4693-4695)Aat>Cat	p.N1565H	USH2A_ENST00000366943.2_Missense_Mutation_p.N1565H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCCTGATTGCCAGGTGAT	0.383										HNSCC(13;0.011)																																							0								ENSG00000042781						81	76	77					1																	216270490		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4693A>C	1.37:g.216270490T>G	ENSP00000305941:p.Asn1565His	Somatic	0	77	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N1565H	ENST00000307340.3	37	c.4693	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033274	0.54896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78364	-1.17;-1.17	5.34	1.69	0.24217	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.287470	0.24209	N	0.040547	D	0.82518	0.5054	M	0.75615	2.305	0.09310	N	1	D	0.56287	0.975	P	0.58077	0.832	T	0.73304	-0.4025	10	0.49607	T	0.09	.	9.127	0.36821	0.0:0.2092:0.0:0.7908	.	1565	O75445	USH2A_HUMAN	H	1565	ENSP00000305941:N1565H;ENSP00000355910:N1565H	ENSP00000305941:N1565H	N	-	1	0	USH2A	214337113	0.924000	0.31332	0.008000	0.14137	0.932000	0.56968	1.962000	0.40442	0.026000	0.15269	0.533000	0.62120	AAT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	T	NM_007123	-		216270490	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.092	G	G	216270490	T	G	216270490	3	3	196	1	0	0	0	0	1	0	0	0	17043	1812	63	5	11119	5	USH2A	1	216270490	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	280088	216270490	32980131	231	13503											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgctacaaatgagccttCgaataagatccttagcattt	6	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368																																																	0								ENSG00000143776						90	89	89					1																	227333377		2203	4300	6503	CDC42BPA	SO:0001583	missense	0			-	HGNC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.956G>A	1.37:g.227333377C>T	ENSP00000355731:p.Arg319Gln	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.44		Missense_Mutation	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R319Q	ENST00000366769.3	37	c.956	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	CDC42BPA	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	protein_coding	OTTHUMT00000091696.1	C	NM_014826	-		227333377	-1	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	SNP	1.000	T	T	227333377	C	T	227333377	3	4	196	1	0	0	0	0	1	0	0	0	3074	884	31	1	4319	1	CDC42BPA	1	227333377	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	11062887	227333377	21917244	232	13504											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227335252	227335252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcctacagccactgaGgactgaacctgaagaaattt	10	9	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:227335252G>A	ENST00000366769.3	-	7	1993	c.702C>T	c.(700-702)tcC>tcT	p.S234S	CDC42BPA_ENST00000366767.3_Silent_p.S234S|CDC42BPA_ENST00000366765.3_Silent_p.S234S|CDC42BPA_ENST00000334218.5_Silent_p.S234S|CDC42BPA_ENST00000535525.1_Silent_p.S234S|CDC42BPA_ENST00000366764.2_Silent_p.S234S|CDC42BPA_ENST00000366766.2_Silent_p.S234S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CAGCCACTGAGGACTGAACCT	0.333																																																	0								ENSG00000143776						56	54	55					1																	227335252		2203	4300	6503	CDC42BPA	SO:0001819	synonymous_variant	0			-	HGNC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.702C>T	1.37:g.227335252G>A		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33		Silent	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S234	ENST00000366769.3	37	c.702	CCDS1558.1	1																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.333	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	protein_coding	OTTHUMT00000091696.1	G	NM_014826	-		227335252	-1	no_errors	ENST00000334218	ensembl	human	known	74_37	silent	SNP	1.000	A	A	227335252	G	A	227335252	2	1	196	1	0	0	0	0	0	0	0	1	3074	987	35	2		2	CDC42BPA	1	227335252	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1875	227335252	21915369	233	13505											
OBSCN	84033	genome.wustl.edu	37	chr1	228404937	228404937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcaggatgaaggcacCtactcctgccgcgtgggcga	14	13	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228404937C>T	ENST00000422127.1	+	8	2645	c.2601C>T	c.(2599-2601)acC>acT	p.T867T	OBSCN_ENST00000570156.2_Silent_p.T867T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T867T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	867	Ig-like 8.				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)				ATGAAGGCACCTACTCCTGCC	0.672																																																	0								ENSG00000154358						43	49	47					1																	228404937		2182	4261	6443	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.2601C>T	1.37:g.228404937C>T		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	42	41.67	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T867	ENST00000422127.1	37	c.2601	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228404937	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.906	T	T	228404937	C	T	228404937	2	4	196	1	0	0	0	0	0	0	0	1	10814	668	24	2		2	OBSCN	1	228404937	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1069685	228404937	20845684	234	13506											
OBSCN	84033	genome.wustl.edu	37	chr1	228506684	228506684	+	Frame_Shift_Del	DEL	C	C	-													cctactgtgggaggccctggCtcggaaacgtcgcatgagcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228506684delC	ENST00000422127.1	+	54	14275	c.14231delC	c.(14230-14232)gctfs	p.A4744fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.A5701fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.A1863fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.A4744fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.A2378fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4744					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)				GAGGCCCTGGCTCGGAAACGT	0.687																																																	0								ENSG00000154358						16	20	19					1																	228506684		2186	4276	6462	OBSCN	SO:0001589	frameshift_variant	0				HGNC	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.14231delC	1.37:g.228506684delC	ENSP00000409493:p.Ala4744fs	Somatic	0	17	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A4744fs	ENST00000422127.1	37	c.14231	CCDS58065.1	1																																																																																			-	NULL		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843			228506684	1	no_errors	ENST00000422127	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	228506684	C	-	228506684	7	5	196	1	0	1	0	1	0	0	0	0	10814	797	28	0	14441	0	OBSCN	1	228506684	Frame_Shift_Del	DEL	C	TCGA-QC-A7B5-01A-11D-A33E-09	101747	228506684	20743937	235	13507	218	2									
OBSCN	84033	genome.wustl.edu	37	chr1	228506686	228506686	+	Missense_Mutation	SNP	C	C	T													tactgtgggaggccctggctCggaaacgtcgcatgagccgt					rs570545660		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228506686C>T	ENST00000422127.1	+	54	14277	c.14233C>T	c.(14233-14235)Cgg>Tgg	p.R4745W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5702W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1864W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4745W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2379W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4745					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)				GGCCCTGGCTCGGAAACGTCG	0.687																																																	0								ENSG00000154358						17	20	19					1																	228506686		2188	4278	6466	OBSCN	SO:0001583	missense	0			-	HGNC	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.14233C>T	1.37:g.228506686C>T	ENSP00000409493:p.Arg4745Trp	Somatic	0	18	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R4745W	ENST00000422127.1	37	c.14233	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466374	0.63625	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.65364	0.26;-0.15;-0.09;0.41	4.03	1.89	0.25635	.	0.207897	0.29139	N	0.013029	T	0.61702	0.2368	N	0.24115	0.695	0.31729	N	0.637237	D;D	0.76494	0.999;0.999	P;D	0.65140	0.857;0.932	T	0.66520	-0.5903	10	0.62326	D	0.03	.	10.3422	0.43884	0.6289:0.3711:0.0:0.0	.	4745;4745	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4745;4745;2379;1864	ENSP00000284548:R4745W;ENSP00000409493:R4745W;ENSP00000355668:R2379W;ENSP00000355670:R1864W	ENSP00000284548:R4745W	R	+	1	2	OBSCN	226573309	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	5.230000	0.65321	0.882000	0.36016	0.313000	0.20887	CGG	-	NULL		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228506686	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	1.000	T	T	228506686	C	T	228506686	3	4	196	1	0	0	0	0	1	0	0	0	10814	875	31	1	14443	1	OBSCN	1	228506686	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	228506686	20743935	236	13508	218	2									
OBSCN	84033	genome.wustl.edu	37	chr1	228560206	228560206	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagcaggaggccagggctGagagcccactgccccaggtc	15	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228560206G>A	ENST00000422127.1	+	94	21771	c.21727G>A	c.(21727-21729)Gag>Aag	p.E7243K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E8200K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4877K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7243					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)				GGCCAGGGCTGAGAGCCCACT	0.682																																																	0								ENSG00000154358						13	16	15					1																	228560206		2065	4189	6254	OBSCN	SO:0001583	missense	0			-	HGNC	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.21727G>A	1.37:g.228560206G>A	ENSP00000409493:p.Glu7243Lys	Somatic	0	52	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	59	27.16	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E7243K	ENST00000422127.1	37	c.21727	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008538	0.35415	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62941	-0.01;0.07	4.03	0.926	0.19430	.	.	.	.	.	T	0.46464	0.1394	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.30401	0.115	T	0.27502	-1.0072	9	0.52906	T	0.07	.	12.8405	0.57800	0.0:0.4942:0.5058:0.0	.	7243	Q5VST9	OBSCN_HUMAN	K	7243;4877	ENSP00000409493:E7243K;ENSP00000355668:E4877K	ENSP00000355668:E4877K	E	+	1	0	OBSCN	226626829	0.000000	0.05858	0.001000	0.08648	0.219000	0.24729	-0.781000	0.04648	0.093000	0.17368	0.561000	0.74099	GAG	-	NULL		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228560206	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.018	A	A	228560206	G	A	228560206	3	1	196	1	0	0	0	0	1	0	0	0	10814	1291	45	2	23307	2	OBSCN	1	228560206	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	53520	228560206	20690415	237	13509											
RHOU	58480	genome.wustl.edu	37	chr1	228879287	228879287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggctaagctgtgcgccGaggaaatcaaagccgcctcc	13	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228879287G>A	ENST00000366691.3	+	3	1243	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCTGTGCGCCGAGGAAATCAA	0.493																																																	0								ENSG00000116574						82	91	88					1																	228879287		2203	4300	6503	RHOU	SO:0001583	missense	0			-	HGNC		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.577G>A	1.37:g.228879287G>A	ENSP00000355652:p.Glu193Lys	Somatic	0	27	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	50	20.63		Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E193K	ENST00000366691.3	37	c.577	CCDS1575.1	1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517367	0.27123	.	.	ENSG00000116574	ENST00000366691	T	0.75704	-0.96	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.219510	0.45126	D	0.000381	T	0.48607	0.1509	N	0.10707	0.03	0.44282	D	0.997143	B	0.31705	0.336	B	0.23275	0.045	T	0.55761	-0.8090	10	0.02654	T	1	.	15.2086	0.73198	0.0:0.0:1.0:0.0	.	193	Q7L0Q8	RHOU_HUMAN	K	193	ENSP00000355652:E193K	ENSP00000355652:E193K	E	+	1	0	RHOU	226945910	1.000000	0.71417	0.974000	0.42286	0.989000	0.77384	3.051000	0.49885	2.439000	0.82584	0.655000	0.94253	GAG	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.493	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	protein_coding	OTTHUMT00000092555.1	G	NM_021205	-		228879287	1	no_errors	ENST00000366691	ensembl	human	known	74_37	missense	SNP	0.982	A	A	228879287	G	A	228879287	3	1	196	1	0	0	0	0	1	0	0	0	13353	1059	37	1	587	1	RHOU	1	228879287	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	319081	228879287	20371334	238	13510											
AGT	183	genome.wustl.edu	37	chr1	230839074	230839074	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaaaatgctgttcagcAcctgcaaagcagcagacatc	7	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:230839074A>C	ENST00000366667.4	-	5	1485	c.1271T>G	c.(1270-1272)gTg>gGg	p.V424G		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	424					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGTTCAGCACCTGCAAAGC	0.567																																																	0								ENSG00000135744						80	78	79					1																	230839074		2203	4300	6503	AGT	SO:0001630	splice_region_variant	0			-	HGNC	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1270-1T>G	1.37:g.230839074A>C		Somatic	0	54	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	54	18.18	Q16358|Q16359|Q96F91	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen	p.V424G	ENST00000366667.4	37	c.1271	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.180877	0.57800	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87809	-2.3	5.35	5.35	0.76521	Serpin domain (3);	0.134589	0.50627	D	0.000115	D	0.92185	0.7522	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92803	0.6258	10	0.87932	D	0	.	11.7198	0.51675	1.0:0.0:0.0:0.0	.	424;424	B0ZBE2;P01019	.;ANGT_HUMAN	G	424;342	ENSP00000355627:V424G	ENSP00000355627:V424G	V	-	2	0	AGT	228905697	0.999000	0.42202	0.991000	0.47740	0.425000	0.31504	4.829000	0.62737	2.025000	0.59659	0.478000	0.44815	GTG	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.567	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	protein_coding	OTTHUMT00000092102.1	A	NM_000029	-	Missense_Mutation	230839074	-1	no_errors	ENST00000366667	ensembl	human	known	74_37	missense	SNP	0.999	C	C	230839074	A	C	230839074	5	2	196	1	0	0	0	0	0	0	1	0	399	173	6	5	190	5	AGT	1	230839074	Splice_Site	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1959787	230839074	18411547	239	13511											
CAPN9	10753	genome.wustl.edu	37	chr1	230898412	230898412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagttctggcagcacaGtgagtggctggacgtggtga	16	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:230898412G>A	ENST00000271971.2	+	4	529	c.416G>A	c.(415-417)aGt>aAt	p.S139N	CAPN9_ENST00000366666.2_Missense_Mutation_p.S76N|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.S139N	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	139	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGGCAGCACAGTGAGTGGCTG	0.547																																																	0								ENSG00000135773						108	100	103					1																	230898412		2203	4300	6503	CAPN9	SO:0001583	missense	0			-	HGNC	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.416G>A	1.37:g.230898412G>A	ENSP00000271971:p.Ser139Asn	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	37	51.95	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.S139N	ENST00000271971.2	37	c.416	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532836	0.45073	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.15603	2.41;2.41;2.41	5.33	4.42	0.53409	Peptidase C2, calpain, catalytic domain (3);	0.176182	0.64402	N	0.000012	T	0.05686	0.0149	N	0.01168	-0.975	0.32924	D	0.516236	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.03933	-1.0991	10	0.59425	D	0.04	.	6.4162	0.21717	0.3181:0.0:0.6819:0.0	.	76;139;139	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	N	139;139;76	ENSP00000271971:S139N;ENSP00000346538:S139N;ENSP00000355626:S76N	ENSP00000271971:S139N	S	+	2	0	CAPN9	228965035	0.995000	0.38212	0.920000	0.36463	0.953000	0.61014	2.848000	0.48278	1.235000	0.43724	0.591000	0.81541	AGT	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat		0.547	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	protein_coding	OTTHUMT00000092179.1	G	NM_006615	-		230898412	1	no_errors	ENST00000271971	ensembl	human	known	74_37	missense	SNP	0.959	A	A	230898412	G	A	230898412	3	1	196	1	0	0	0	0	1	0	0	0	2634	1029	36	2	430	2	CAPN9	1	230898412	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	59338	230898412	18352209	240	13512											
DISC1	27185	genome.wustl.edu	37	chr1	232144551	232144551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagtgtccactgcttgGgaaagtgtgggaagctgact	14	8	0	1	rs367543094		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:232144551G>A	ENST00000439617.2	+	11	2116	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E	DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.G668R|DISC1_ENST00000366637.3_Missense_Mutation_p.G20E|DISC1_ENST00000537876.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	688	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCACTGCTTGGGAAAGTGTGG	0.488																																																	0								ENSG00000162946	G	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,ARG/GLY,,GLU/GLY	3,3929		0,3,1963	84	83	84		2063,2159,2063,1697,2002,,2063	0	0.1	1		84	0,8334		0,0,4167	no	missense,missense,missense,missense,missense,utr-3,missense	DISC1	NM_001012957.1,NM_001164537.1,NM_001164538.1,NM_001164540.1,NM_001164541.1,NM_001164547.1,NM_018662.2	98,98,98,98,125,,98	0,3,6130	AA,AG,GG		0.0,0.0763,0.0245	benign,benign,benign,benign,benign,,benign	688/833,720/887,688/804,566/733,668/696,,688/855	232144551	3,12263	1966	4167	6133	DISC1	SO:0001583	missense	0			-	HGNC	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2063G>A	1.37:g.232144551G>A	ENSP00000403888:p.Gly688Glu	Somatic	0	19	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP							superfamily_Prefoldin	p.G688E	ENST00000439617.2	37	c.2063		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.119|0.119	-1.128655|-1.128655	0.01756|0.01756	7.63E-4|7.63E-4	0.0|0.0	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560|ENST00000535983;ENST00000422590	T|T	0.06068|0.12255	3.35|2.7	4.63|4.63	-0.00636|-0.00636	0.14014|0.14014	.|.	0.630007|0.630007	0.15007|0.15007	N|N	0.285807|0.285807	T|T	0.09024|0.09024	0.0223|0.0223	.|.	.|.	.|.	0.21105|0.21105	N|N	0.99979|0.99979	B;B;B;B;B;B;B|B	0.28350|0.12013	0.208;0.041;0.208;0.208;0.004;0.093;0.01|0.005	B;B;B;B;B;B;B|B	0.22152|0.08055	0.038;0.026;0.038;0.038;0.009;0.026;0.026|0.003	T|T	0.26087|0.26087	-1.0113|-1.0113	9|9	0.02654|0.45353	T|T	1|0.12	0.0025|0.0025	7.3585|7.3585	0.26733|0.26733	0.6484:0.0:0.3516:0.0|0.6484:0.0:0.3516:0.0	.|.	720;566;720;688;566;688;688|668	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5|C4P0A3	.;.;.;.;.;.;DISC1_HUMAN|.	E|R	688;688;720;566;20|668;91	ENSP00000403888:G688E|ENSP00000443996:G668R	ENSP00000355597:G688E|ENSP00000415147:G91R	G|G	+|+	2|1	0|0	DISC1|DISC1	230211174|230211174	0.007000|0.007000	0.16637|0.16637	0.063000|0.063000	0.19743|0.19743	0.615000|0.615000	0.37417|0.37417	0.981000|0.981000	0.29526|0.29526	-0.135000|-0.135000	0.11495|0.11495	0.650000|0.650000	0.86243|0.86243	GGG|GGA	-	NULL		0.488	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	DISC1	protein_coding	OTTHUMT00000092351.2	G	NM_018662	-		232144551	1	no_errors	ENST00000439617	ensembl	human	known	74_37	missense	SNP	0.419	A	A	232144551	G	A	232144551	3	1	196	1	0	0	0	0	1	0	0	0	4540	1233	43	2	2841	2	DISC1	1	232144551	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1246139	232144551	17106070	241	13513											
PCNXL2	80003	genome.wustl.edu	37	chr1	233134994	233134994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccccaggggctgatcgcaGgaggagttaatcaagttccg	13	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:233134994G>A	ENST00000258229.9	-	31	5694	c.5460C>T	c.(5458-5460)tcC>tcT	p.S1820S	PCNXL2_ENST00000344698.2_Silent_p.S472S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1820						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTGATCGCAGGAGGAGTTAA	0.557																																																	0								ENSG00000135749						63	65	64					1																	233134994		1923	4140	6063	PCNXL2	SO:0001819	synonymous_variant	0			-	HGNC	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5460C>T	1.37:g.233134994G>A		Somatic	0	111	0		0.52429534266604	20	36.36	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	115	27.67	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP							pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.S1820	ENST00000258229.9	37	c.5460	CCDS44335.1	1																																																																																			-	pfam_Pecanex		0.557	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	G	NM_014801	-		233134994	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	silent	SNP	1.000	A	A	233134994	G	A	233134994	2	1	196	1	0	0	0	0	0	0	0	1	11594	987	35	2		2	PCNXL2	1	233134994	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	990443	233134994	16115627	242	13514											
TARBP1	6894	genome.wustl.edu	37	chr1	234561434	234561434	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttactttatctaatagcttGattgcaagatcctcaataaa	4	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:234561434G>A	ENST00000040877.1	-	20	3428	c.3429C>T	c.(3427-3429)atC>atT	p.I1143I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1143					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAATAGCTTGATTGCAAGAT	0.323																																																	0								ENSG00000059588						64	66	65					1																	234561434		2201	4297	6498	TARBP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3429C>T	1.37:g.234561434G>A		Somatic	0	83	0		0.52429534266604	8	27.27	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	64	27.27	Q9H581	Silent	SNP							pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.I1143	ENST00000040877.1	37	c.3429	CCDS1601.1	1																																																																																			-	superfamily_ARM-type_fold		0.323	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	protein_coding	OTTHUMT00000092616.1	G	NM_005646	-		234561434	-1	no_errors	ENST00000040877	ensembl	human	novel	74_37	silent	SNP	1.000	A	A	234561434	G	A	234561434	2	1	196	1	0	0	0	0	0	0	0	1	15562	1280	45	2		2	TARBP1	1	234561434	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1426440	234561434	14689187	243	13515											
IRF2BP2	359948	genome.wustl.edu	37	chr1	234742890	234742893	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													gaaaccggaaaagtcacgagTctctctcttttttcactttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	TCTC	TCTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:234742890_234742893delTCTC	ENST00000366609.3	-	2	1784_1787	c.1754_1757delGAGA	c.(1753-1758)agagacfs	p.RD585fs	IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Frame_Shift_Del_p.RD569fs|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AAGTCACGAGTCTCTCTCTTTTTT	0.402																																																	0								ENSG00000168264																																			IRF2BP2	SO:0001589	frameshift_variant	0				HGNC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1754_1757delGAGA	1.37:g.234742894_234742897delTCTC	ENSP00000355568:p.Arg585fs	Somatic	0	64	0		0.52429534266604	427	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	61	27.38	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Frame_Shift_Del	DEL							pfam_Interferon_reg_fac2-bd1_2_Znf	p.R585fs	ENST00000366609.3	37	c.1757_1754	CCDS1602.1	1																																																																																			-	NULL		0.402	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	protein_coding	OTTHUMT00000092705.1	TCTC	NM_182972			234742893	-1	no_errors	ENST00000366609	ensembl	human	novel	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	234742893	TCTC	-	234742890	7	5	196	1	0	1	0	1	0	0	0	0	7832	1667	58	0	10	0	IRF2BP2	1	234742890	Frame_Shift_Del	DEL	TCTC	TCGA-QC-A7B5-01A-11D-A33E-09	181456	234742890	14507731	244	13516											
LYST	1130	genome.wustl.edu	37	chr1	235972736	235972736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaggcctcgggaggaActccatctcttaaaaccagc	10	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:235972736A>G	ENST00000389794.3	-	5	1556	c.1382T>C	c.(1381-1383)gTt>gCt	p.V461A	LYST_ENST00000536965.1_Missense_Mutation_p.V461A|LYST_ENST00000389793.2_Missense_Mutation_p.V461A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	461					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTCGGGAGGAACTCCATCTCT	0.378																																																	0								ENSG00000143669						72	72	72					1																	235972736		2203	4300	6503	LYST	SO:0001583	missense	0			-	HGNC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1382T>C	1.37:g.235972736A>G	ENSP00000374444:p.Val461Ala	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V461A	ENST00000389794.3	37	c.1382	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218807	0.39201	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.67171	-0.25;-0.25;2.57	5.14	1.56	0.23342	.	0.376195	0.30676	N	0.009102	T	0.66237	0.2769	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.019	P;B	0.55391	0.775;0.015	T	0.58521	-0.7622	10	0.51188	T	0.08	.	9.0824	0.36561	0.7904:0.0:0.2096:0.0	.	461;461	Q99698-3;Q99698	.;LYST_HUMAN	A	461	ENSP00000374444:V461A;ENSP00000374443:V461A;ENSP00000438315:V461A	ENSP00000374443:V461A	V	-	2	0	LYST	234039359	0.000000	0.05858	0.019000	0.16419	0.667000	0.39255	0.118000	0.15605	0.097000	0.17492	0.533000	0.62120	GTT	-	superfamily_ARM-type_fold		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	A		-		235972736	-1	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	SNP	0.064	G	G	235972736	A	G	235972736	3	3	196	1	0	0	0	0	1	0	0	0	9130	43	2	5	10219	5	LYST	1	235972736	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1229846	235972736	13277885	245	13517											
HEATR1	55127	genome.wustl.edu	37	chr1	236719488	236719488	+	Missense_Mutation	SNP	A	A	T													tggtagccagtgtctttttaAgagatgtgagacggatatta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:236719488A>T	ENST00000366582.3	-	38	5540	c.5426T>A	c.(5425-5427)cTt>cAt	p.L1809H	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1728H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1809					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTCTTTTTAAGAGATGTGAG	0.428																																																	0								ENSG00000119285						136	133	134					1																	236719488		2203	4300	6503	HEATR1	SO:0001583	missense	0			-	HGNC	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5426T>A	1.37:g.236719488A>T	ENSP00000355541:p.Leu1809His	Somatic	0	53	0		0.52429534266604	45	41.56	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	44	35.29	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP							pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L1809H	ENST00000366582.3	37	c.5426	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901139	0.52227	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.73681	-0.77;-0.77	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.070046	0.52532	D	0.000066	D	0.83004	0.5160	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.972;0.992	T	0.81187	-0.1047	10	0.27785	T	0.31	.	13.4801	0.61330	1.0:0.0:0.0:0.0	.	1728;1809	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	1809;1728	ENSP00000355541:L1809H;ENSP00000355540:L1728H	ENSP00000355540:L1728H	L	-	2	0	HEATR1	234786111	1.000000	0.71417	0.938000	0.37757	0.127000	0.20565	7.772000	0.85439	2.028000	0.59812	0.528000	0.53228	CTT	-	superfamily_ARM-type_fold		0.428	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	A	XM_375853	-		236719488	-1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	SNP	0.923	T	T	236719488	A	T	236719488	3	4	196	1	0	0	0	0	1	0	0	0	7029	72	3	5	1040	5	HEATR1	1	236719488	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	746752	236719488	12531133	246	13518	219	2									
HEATR1	55127	genome.wustl.edu	37	chr1	236719489	236719489	+	Missense_Mutation	SNP	G	G	A													ggtagccagtgtctttttaaGagatgtgagacggatattag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:236719489G>A	ENST00000366582.3	-	38	5539	c.5425C>T	c.(5425-5427)Ctt>Ttt	p.L1809F	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1728F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1809					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTCTTTTTAAGAGATGTGAGA	0.433																																																	0								ENSG00000119285						136	133	134					1																	236719489		2203	4300	6503	HEATR1	SO:0001583	missense	0			-	HGNC	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5425C>T	1.37:g.236719489G>A	ENSP00000355541:p.Leu1809Phe	Somatic	0	53	0		0.52429534266604	42	41.67	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	43	36.23	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP							pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L1809F	ENST00000366582.3	37	c.5425	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285540	0.40394	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.72282	-0.64;-0.64	4.81	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.070046	0.52532	D	0.000066	T	0.77552	0.4147	M	0.65975	2.015	0.80722	D	1	P;D	0.76494	0.76;0.999	B;D	0.69479	0.441;0.964	T	0.72944	-0.4138	10	0.21540	T	0.41	.	8.9796	0.35957	0.173:0.0:0.827:0.0	.	1728;1809	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	F	1809;1728	ENSP00000355541:L1809F;ENSP00000355540:L1728F	ENSP00000355540:L1728F	L	-	1	0	HEATR1	234786112	1.000000	0.71417	0.933000	0.37362	0.116000	0.19942	2.872000	0.48467	2.507000	0.84556	0.650000	0.86243	CTT	-	superfamily_ARM-type_fold		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	G	XM_375853	-		236719489	-1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	SNP	0.895	A	A	236719489	G	A	236719489	3	1	196	1	0	0	0	0	1	0	0	0	7029	942	33	2	1041	2	HEATR1	1	236719489	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	236719489	12531132	247	13519	219	2									
HEATR1	55127	genome.wustl.edu	37	chr1	236767332	236767332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaacttcatctctagAtaagaggctggcatcacttt	8	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:236767332A>G	ENST00000366582.3	-	2	178	c.64T>C	c.(64-66)Tct>Cct	p.S22P	HEATR1_ENST00000366579.1_Missense_Mutation_p.S22P|HEATR1_ENST00000366581.2_Missense_Mutation_p.S22P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	22					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCATCTCTAGATAAGAGGCTG	0.502																																																	0								ENSG00000119285						74	73	73					1																	236767332		2203	4300	6503	HEATR1	SO:0001583	missense	0			-	HGNC	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.64T>C	1.37:g.236767332A>G	ENSP00000355541:p.Ser22Pro	Somatic	0	66	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	55	42.71	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP							pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.S22P	ENST00000366582.3	37	c.64	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338253	0.60963	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.50813	0.73;0.73;0.73	5.51	4.32	0.51571	.	0.529765	0.21093	N	0.080290	T	0.38719	0.1051	L	0.52011	1.625	0.09310	N	1	P	0.46706	0.883	B	0.41036	0.346	T	0.30621	-0.9972	10	0.33940	T	0.23	.	7.3476	0.26672	0.6295:0.1773:0.0:0.1932	.	22	Q9H583	HEAT1_HUMAN	P	22	ENSP00000355541:S22P;ENSP00000355540:S22P;ENSP00000355538:S22P	ENSP00000355538:S22P	S	-	1	0	HEATR1	234833955	0.016000	0.18221	0.020000	0.16555	0.902000	0.53008	0.769000	0.26604	2.092000	0.63282	0.482000	0.46254	TCT	-	NULL		0.502	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	A	XM_375853	-		236767332	-1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	SNP	0.000	G	G	236767332	A	G	236767332	3	3	196	1	0	0	0	0	1	0	0	0	7029	333	12	5	6546	5	HEATR1	1	236767332	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	47843	236767332	12483289	248	13520											
RYR2	6262	genome.wustl.edu	37	chr1	237758910	237758910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggatgctgccagcgggCtgctcacattcattgccaat	12	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237758910C>T	ENST00000366574.2	+	34	4866	c.4549C>T	c.(4549-4551)Ctg>Ttg	p.L1517L	RYR2_ENST00000360064.6_Silent_p.L1515L|RYR2_ENST00000542537.1_Silent_p.L1501L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1517	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCAGCGGGCTGCTCACATT	0.527																																																	0								ENSG00000198626						71	80	77					1																	237758910		2104	4237	6341	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4549C>T	1.37:g.237758910C>T		Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	78	12.36	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L1515	ENST00000366574.2	37	c.4543	CCDS55691.1	1																																																																																			-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035	-		237758910	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	0.998	T	T	237758910	C	T	237758910	2	4	196	1	0	0	0	0	0	0	0	1	13777	796	28	2		2	RYR2	1	237758910	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	991578	237758910	11491711	249	13521											
RYR2	6262	genome.wustl.edu	37	chr1	237811832	237811832	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccttgacagggtctatggGattgaggttcaagacttcct	11	8	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237811832G>A	ENST00000366574.2	+	49	7748	c.7431G>A	c.(7429-7431)ggG>ggA	p.G2477G	RYR2_ENST00000360064.6_Silent_p.G2475G|RYR2_ENST00000542537.1_Silent_p.G2461G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2477	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGTCTATGGGATTGAGGTTC	0.502																																																	0								ENSG00000198626						105	98	100					1																	237811832		1919	4137	6056	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7431G>A	1.37:g.237811832G>A		Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	74	17.78	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G2475	ENST00000366574.2	37	c.7425	CCDS55691.1	1																																																																																			-	NULL		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237811832	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	0.045	A	A	237811832	G	A	237811832	2	1	196	1	0	0	0	0	0	0	0	1	13777	1161	41	2		2	RYR2	1	237811832	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	52922	237811832	11438789	250	13522											
RYR2	6262	genome.wustl.edu	37	chr1	237813397	237813397	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttactctctatttgtgGgtgagtggataacaaattct	9	5	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237813397G>A	ENST00000366574.2	+	50	8050	c.7733G>A	c.(7732-7734)gGa>gAa	p.G2578E	RYR2_ENST00000360064.6_Splice_Site_p.G2576E|RYR2_ENST00000542537.1_Splice_Site_p.G2562E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2578	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTATTTGTGGGTGAGTGGAT	0.343																																																	0								ENSG00000198626						139	128	132					1																	237813397		1831	4096	5927	RYR2	SO:0001630	splice_region_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7733+1G>A	1.37:g.237813397G>A		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G2576E	ENST00000366574.2	37	c.7727	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997344	0.35226	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91686	-2.89;-2.89;-2.89	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000004	D	0.86556	0.5961	N	0.19112	0.55	0.80722	D	1	P	0.44946	0.846	B	0.38842	0.283	D	0.86139	0.1580	10	0.33940	T	0.23	-12.0176	19.9299	0.97115	0.0:0.0:1.0:0.0	.	2578	Q92736	RYR2_HUMAN	E	2578;2576;2562	ENSP00000355533:G2578E;ENSP00000353174:G2576E;ENSP00000443798:G2562E	ENSP00000353174:G2576E	G	+	2	0	RYR2	235880020	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.802000	0.62539	2.769000	0.95229	0.655000	0.94253	GGA	-	NULL		0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-	Missense_Mutation	237813397	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	A	A	237813397	G	A	237813397	5	1	196	1	0	0	0	0	0	0	1	0	13777	1246	43	2	7931	2	RYR2	1	237813397	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1565	237813397	11437224	251	13523											
RYR2	6262	genome.wustl.edu	37	chr1	237819277	237819277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacccacaacctgttgatAcctcaaagtatggactcttt	5	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237819277A>G	ENST00000366574.2	+	53	8439	c.8122A>G	c.(8122-8124)Acc>Gcc	p.T2708A	RYR2_ENST00000360064.6_Missense_Mutation_p.T2706A|RYR2_ENST00000542537.1_Missense_Mutation_p.T2692A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2708	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTGTTGATACCTCAAAGTA	0.358																																																	0								ENSG00000198626						73	71	72					1																	237819277		1848	4104	5952	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8122A>G	1.37:g.237819277A>G	ENSP00000355533:p.Thr2708Ala	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T2706A	ENST00000366574.2	37	c.8116	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631839	0.87660	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92595	-3.07;-3.07;-3.07	5.95	5.95	0.96441	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.95762	0.8621	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95846	0.8870	10	0.59425	D	0.04	-16.7772	16.4101	0.83708	1.0:0.0:0.0:0.0	.	2708	Q92736	RYR2_HUMAN	A	2708;2706;2692	ENSP00000355533:T2708A;ENSP00000353174:T2706A;ENSP00000443798:T2692A	ENSP00000353174:T2706A	T	+	1	0	RYR2	235885900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.280000	0.76307	0.460000	0.39030	ACC	-	pfam_Ryanodine_rcpt		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	A	NM_001035	-		237819277	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	G	G	237819277	A	G	237819277	3	3	196	1	0	0	0	0	1	0	0	0	13777	391	14	5	8332	5	RYR2	1	237819277	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	5880	237819277	11431344	252	13524											
RYR2	6262	genome.wustl.edu	37	chr1	237829883	237829883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttacactatctagagaCctgcatgtaagtactattaa	6	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237829883C>T	ENST00000366574.2	+	57	8825	c.8508C>T	c.(8506-8508)gaC>gaT	p.D2836D	RYR2_ENST00000360064.6_Silent_p.D2834D|RYR2_ENST00000542537.1_Silent_p.D2820D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2836	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATCTAGAGACCTGCATGTAA	0.378																																																	0								ENSG00000198626						52	47	49					1																	237829883		1855	4088	5943	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8508C>T	1.37:g.237829883C>T		Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	59	32.95	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D2834	ENST00000366574.2	37	c.8502	CCDS55691.1	1																																																																																			-	pfam_Ryanodine_rcpt		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035	-		237829883	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	0.987	T	T	237829883	C	T	237829883	2	4	196	1	0	0	0	0	0	0	0	1	13777	506	18	2		2	RYR2	1	237829883	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	10606	237829883	11420738	253	13525											
RYR2	6262	genome.wustl.edu	37	chr1	237955546	237955546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagagcagcggctacatgGagcccacgttgcgtatctta	13	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237955546G>A	ENST00000366574.2	+	94	14022	c.13705G>A	c.(13705-13707)Gag>Aag	p.E4569K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4575K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4553K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4569					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGCTACATGGAGCCCACGTT	0.458																																																	0								ENSG00000198626						71	77	75					1																	237955546		2085	4215	6300	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13705G>A	1.37:g.237955546G>A	ENSP00000355533:p.Glu4569Lys	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E4575K	ENST00000366574.2	37	c.13723	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765925	0.69878	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.94092	-3.35;-3.35;-3.35	5.49	5.49	0.81192	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000014	D	0.90331	0.6975	L	0.47190	1.495	0.54753	D	0.999988	B;B	0.17268	0.001;0.021	B;B	0.17722	0.012;0.019	D	0.85713	0.1320	10	0.26408	T	0.33	-21.3768	15.2548	0.73576	0.0:0.1398:0.8602:0.0	.	2;4569	F5H3C7;Q92736	.;RYR2_HUMAN	K	4569;4575;4553;2	ENSP00000355533:E4569K;ENSP00000353174:E4575K;ENSP00000443798:E4553K	ENSP00000353174:E4575K	E	+	1	0	RYR2	236022169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.827000	0.86722	2.731000	0.93534	0.650000	0.86243	GAG	-	pfam_Ryanrecept_TM4-6		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237955546	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	A	A	237955546	G	A	237955546	3	1	196	1	0	0	0	0	1	0	0	0	13777	1175	41	2	14079	2	RYR2	1	237955546	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	125663	237955546	11295075	254	13526											
RYR2	6262	genome.wustl.edu	37	chr1	237995922	237995922	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaggggattgcttccggaAacagtatgaagaccagctaa	12	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237995922A>C	ENST00000366574.2	+	105	15196	c.14879A>C	c.(14878-14880)aAa>aCa	p.K4960T	RYR2_ENST00000360064.6_Missense_Mutation_p.K4966T|RYR2_ENST00000542537.1_Missense_Mutation_p.K4944T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4960					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCTTCCGGAAACAGTATGAA	0.418																																																	0								ENSG00000198626						74	72	72					1																	237995922		1847	4121	5968	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14879A>C	1.37:g.237995922A>C	ENSP00000355533:p.Lys4960Thr	Somatic	0	96	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	125	16.11	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.K4966T	ENST00000366574.2	37	c.14897	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042697	0.75732	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.34;-4.37	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000011	D	0.98492	0.9497	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.99686	1.1000	10	0.87932	D	0	-19.1416	15.1571	0.72752	1.0:0.0:0.0:0.0	.	4960	Q92736	RYR2_HUMAN	T	4960;4966;4944	ENSP00000355533:K4960T;ENSP00000353174:K4966T;ENSP00000443798:K4944T	ENSP00000353174:K4966T	K	+	2	0	RYR2	236062545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.162000	0.67917	0.533000	0.62120	AAA	-	NULL		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	A	NM_001035	-		237995922	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	C	C	237995922	A	C	237995922	3	2	196	1	0	0	0	0	1	0	0	0	13777	14	1	5	15297	5	RYR2	1	237995922	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	40376	237995922	11254699	255	13527											
RGS7	6000	genome.wustl.edu	37	chr1	240976931	240976931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctaccttgcctcaagttCccagaaagtggtgtcatcgg	9	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:240976931C>T	ENST00000407727.1	-	12	942	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	RGS7_ENST00000331110.7_Missense_Mutation_p.E289K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K|RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000366565.1_Missense_Mutation_p.E315K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	315	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCCTCAAGTTCCCAGAAAGTG	0.433																																																	0								ENSG00000182901						108	98	102					1																	240976931		2203	4300	6503	RGS7	SO:0001583	missense	0			-	HGNC	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.943G>A	1.37:g.240976931C>T	ENSP00000384428:p.Glu315Lys	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	60	44.44	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP							pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.E315K	ENST00000407727.1	37	c.943		1	.	.	.	.	.	.	.	.	.	.	C	36	5.732649	0.96856	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.76	5.76	0.90799	G-protein gamma domain (1);	0.050546	0.85682	D	0.000000	T	0.36580	0.0972	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P;P;B	0.48911	0.866;0.727;0.837;0.84;0.917;0.692;0.201	P;P;P;P;P;B;B	0.52066	0.689;0.489;0.535;0.64;0.64;0.358;0.2	T	0.01195	-1.1422	10	0.42905	T	0.14	-20.7719	18.9557	0.92658	0.0:1.0:0.0:0.0	.	231;289;262;315;315;315;315	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	K	289;315;315;315;146;262;231;315;315;262	ENSP00000331485:E289K;ENSP00000355523:E315K;ENSP00000355522:E315K;ENSP00000355521:E315K;ENSP00000404399:E146K;ENSP00000341242:E262K;ENSP00000390138:E231K;ENSP00000355520:E315K;ENSP00000384428:E315K;ENSP00000385508:E262K	ENSP00000331485:E289K	E	-	1	0	RGS7	239043554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.709000	0.92574	0.655000	0.94253	GAA	-	smart_G-protein_gamma-like_dom		0.433	RGS7-204	KNOWN	basic	protein_coding	RGS7	protein_coding		C	NM_002924	-		240976931	-1	no_errors	ENST00000407727	ensembl	human	known	74_37	missense	SNP	1.000	T	T	240976931	C	T	240976931	3	4	196	1	0	0	0	0	1	0	0	0	13318	864	30	2	544	2	RGS7	1	240976931	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2981009	240976931	8273690	256	13528											
WDR64	128025	genome.wustl.edu	37	chr1	241938503	241938503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgaggatactactggctGgaaatgtgggtgagtcatta	14	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:241938503G>A	ENST00000366552.2	+	20	2704	c.2497G>A	c.(2497-2499)Gga>Aga	p.G833R	WDR64_ENST00000437684.2_Intron	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	833										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)			ACTACTGGCTGGAAATGTGGG	0.378																																																	0								ENSG00000162843						139	108	117					1																	241938503		692	1591	2283	WDR64	SO:0001583	missense	0			-	HGNC	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.2497G>A	1.37:g.241938503G>A	ENSP00000355510:p.Gly833Arg	Somatic	0	90	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	85	30.95	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G833R	ENST00000366552.2	37	c.2497		1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955053	0.73902	.	.	ENSG00000162843	ENST00000366552	T	0.62364	0.03	5.8	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.416612	0.23405	N	0.048538	T	0.70116	0.3187	M	0.74881	2.28	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.71567	-0.4554	10	0.87932	D	0	-10.2	8.7996	0.34901	0.1718:0.0:0.8282:0.0	.	833	B1ANS9	WDR64_HUMAN	R	833	ENSP00000355510:G833R	ENSP00000355510:G833R	G	+	1	0	WDR64	240005126	0.992000	0.36948	0.993000	0.49108	0.979000	0.70002	2.541000	0.45735	0.805000	0.34159	0.563000	0.77884	GGA	-	superfamily_WD40_repeat_dom		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	protein_coding		G	NM_144625	-		241938503	1	no_errors	ENST00000366552	ensembl	human	known	74_37	missense	SNP	0.999	A	A	241938503	G	A	241938503	3	1	196	1	0	0	0	0	1	0	0	0	17322	1349	47	2	2575	2	WDR64	1	241938503	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	961572	241938503	7312118	257	13529											
ZNF238	10472	genome.wustl.edu	37	chr1	244217518	244217518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgcttcaagttgttcgGacaaagtcgagagtctctcc	10	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:244217518G>A	ENST00000358704.4	+	2	591	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	139					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|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)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGTTGTTCGGACAAAGTCGA	0.468																																																	0								ENSG00000179456						69	62	64					1																	244217518		2203	4300	6503	ZBTB18	SO:0001583	missense	0			-	HGNC	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13030	protein-coding gene	gene with protein product		608433	"zinc finger protein 238"	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.442G>A	1.37:g.244217518G>A	ENSP00000351539:p.Asp148Asn	Somatic	0	25	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D148N	ENST00000358704.4	37	c.442	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263140	0.80358	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12774	2.65	5.28	5.28	0.74379	.	0.046730	0.85682	D	0.000000	T	0.20901	0.0503	N	0.24115	0.695	0.80722	D	1	D;D;D	0.67145	0.996;0.982;0.978	P;P;P	0.57679	0.825;0.676;0.643	T	0.02098	-1.1214	10	0.33141	T	0.24	.	18.9107	0.92483	0.0:0.0:1.0:0.0	.	148;139;148	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	N	148	ENSP00000351539:D148N	ENSP00000351539:D148N	D	+	1	0	ZNF238	242284141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.431000	0.97494	2.475000	0.83589	0.650000	0.86243	GAC	-	NULL		0.468	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	protein_coding	OTTHUMT00000096513.2	G	NM_205768	-		244217518	1	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	SNP	1.000	A	A	244217518	G	A	244217518	3	1	196	1	0	0	0	0	1	0	0	0	17797	1174	41	2	448	2	ZNF238	1	244217518	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2279015	244217518	5033103	258	13530											
KIF26B	55083	genome.wustl.edu	37	chr1	245772644	245772644	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctgtgccatctcttggctCttcaagctcataaacgaacg	7	14	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:245772644C>T	ENST00000407071.2	+	8	2168	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	KIF26B_ENST00000366518.4_Silent_p.L195L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	576	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCTTGGCTCTTCAAGCTCA	0.547																																																	0								ENSG00000162849						38	38	38					1																	245772644		1924	4127	6051	KIF26B	SO:0001819	synonymous_variant	0			-	HGNC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1728C>T	1.37:g.245772644C>T		Somatic	0	82	0		0.52429534266604	1	83.33	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	52	44.21	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L576	ENST00000407071.2	37	c.1728	CCDS44342.1	1																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.547	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	protein_coding	OTTHUMT00000381037.1	C	XM_371354	-		245772644	1	no_errors	ENST00000407071	ensembl	human	known	74_37	silent	SNP	1.000	T	T	245772644	C	T	245772644	2	4	196	1	0	0	0	0	0	0	0	1	8297	900	32	2		2	KIF26B	1	245772644	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1555126	245772644	3477977	259	13531											
AHCTF1	25909	genome.wustl.edu	37	chr1	247014708	247014708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattcctagcctcttctcCtgaatcttgagcttcaagct	6	12	4	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247014708C>T	ENST00000391829.2	-	33	4723	c.4600G>A	c.(4600-4602)Gga>Aga	p.G1534R	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.G1569R|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1543R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1534	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCCTCTTCTCCTGAATCTTGA	0.323																																					Colon(145;197 1800 4745 15099 26333)												0								ENSG00000153207						28	28	28					1																	247014708		2199	4299	6498	AHCTF1	SO:0001583	missense	0			-	HGNC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4600G>A	1.37:g.247014708C>T	ENSP00000375705:p.Gly1534Arg	Somatic	0	95	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	109	20.44	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP							superfamily_Quinonprotein_ADH-like_supfam	p.G1543R	ENST00000391829.2	37	c.4627		1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500057	0.44455	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.31769	1.48;1.48;1.48	6.08	5.17	0.71159	.	0.417958	0.22825	N	0.055180	T	0.27169	0.0666	L	0.51422	1.61	0.26958	N	0.965873	B;B;B	0.31548	0.328;0.061;0.036	B;B;B	0.25291	0.059;0.023;0.01	T	0.11842	-1.0571	10	0.27082	T	0.32	-3.1679	13.4679	0.61266	0.0:0.9284:0.0:0.0716	.	395;1569;1534	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	R	1569;1543;1534	ENSP00000355464:G1569R;ENSP00000355465:G1543R;ENSP00000375705:G1534R	ENSP00000355465:G1543R	G	-	1	0	AHCTF1	245081331	0.998000	0.40836	0.920000	0.36463	0.753000	0.42808	2.531000	0.45650	1.589000	0.49982	0.591000	0.81541	GGA	-	NULL		0.323	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	protein_coding		C	NM_015446	-		247014708	-1	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	SNP	0.985	T	T	247014708	C	T	247014708	3	4	196	1	0	0	0	0	1	0	0	0	408	690	24	2	2216	2	AHCTF1	1	247014708	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1242064	247014708	2235913	260	13532											
NLRP3	114548	genome.wustl.edu	37	chr1	247611742	247611742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcaattatgagacaaaaaGtgcgttagaaacacttcaag	7	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247611742G>C	ENST00000336119.3	+	9	3793	c.3047G>C	c.(3046-3048)aGt>aCt	p.S1016T	NLRP3_ENST00000391827.2_Missense_Mutation_p.S959T|NLRP3_ENST00000391828.3_Missense_Mutation_p.S1016T|NLRP3_ENST00000366496.2_Missense_Mutation_p.S959T|NLRP3_ENST00000348069.2_Missense_Mutation_p.S902T|NLRP3_ENST00000366497.2_Missense_Mutation_p.S959T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1016					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGACAAAAAGTGCGTTAGAA	0.448																																																	0								ENSG00000162711						108	110	109					1																	247611742		2203	4300	6503	NLRP3	SO:0001583	missense	0			-	HGNC	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3047G>C	1.37:g.247611742G>C	ENSP00000337383:p.Ser1016Thr	Somatic	0	147	0		0.52429534266604	19	26.92	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	133	25.82	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S1016T	ENST00000336119.3	37	c.3047	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	0.555	-0.847542	0.02651	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	4.36	0.329	0.15924	.	1.494490	0.04066	N	0.307234	T	0.22282	0.0537	N	0.02721	-0.515	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.017;0.006;0.004	B;B;B;B;B	0.22601	0.006;0.001;0.04;0.03;0.011	T	0.15378	-1.0439	10	0.19147	T	0.46	.	3.6317	0.08134	0.2844:0.0:0.5437:0.1718	.	996;959;902;959;1016	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	1016;959;1016;902;959;959	ENSP00000375704:S1016T;ENSP00000355453:S959T;ENSP00000337383:S1016T;ENSP00000294752:S902T;ENSP00000355452:S959T;ENSP00000375703:S959T	ENSP00000337383:S1016T	S	+	2	0	NLRP3	245678365	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.659000	0.05323	0.073000	0.16731	-0.343000	0.07986	AGT	-	NULL		0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	protein_coding	OTTHUMT00000097740.1	G	NM_004895	-		247611742	1	no_errors	ENST00000336119	ensembl	human	known	74_37	missense	SNP	0.000	C	C	247611742	G	C	247611742	3	2	196	1	0	0	0	0	1	0	0	0	10480	1029	36	4	3081	4	NLRP3	1	247611742	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	597034	247611742	1638879	261	13533											
OR2C3	81472	genome.wustl.edu	37	chr1	247695264	247695264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagccagttgcataatgaGgggcatctcgcaaaagaagt	11	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247695264G>A	ENST00000366487.3	-	2	911	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	184						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(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCATAATGAGGGGCATCTCG	0.557																																																	0								ENSG00000196242						77	71	73					1																	247695264		2203	4300	6503	OR2C3	SO:0001583	missense	0			-	HGNC	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.550C>T	1.37:g.247695264G>A	ENSP00000355443:p.Leu184Phe	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L184F	ENST00000366487.3	37	c.550	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678630	0.47886	.	.	ENSG00000196242	ENST00000366487	T	0.00107	8.72	3.86	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.532223	0.14120	U	0.340094	T	0.00210	0.0006	L	0.28400	0.85	0.09310	N	1	D	0.55385	0.971	P	0.52109	0.69	T	0.58205	-0.7677	10	0.87932	D	0	.	10.3583	0.43977	0.0:0.3892:0.6108:0.0	.	184	Q8N628	OR2C3_HUMAN	F	184	ENSP00000355443:L184F	ENSP00000355443:L184F	L	-	1	0	OR2C3	245761887	0.000000	0.05858	0.980000	0.43619	0.965000	0.64279	-0.218000	0.09240	0.949000	0.37715	0.644000	0.83932	CTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.557	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	protein_coding	OTTHUMT00000097626.2	G	NM_198074	-		247695264	-1	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	SNP	0.078	A	A	247695264	G	A	247695264	3	1	196	1	0	0	0	0	1	0	0	0	10995	1000	35	2	416	2	OR2C3	1	247695264	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	83522	247695264	1555357	262	13534											
OR6F1	343169	genome.wustl.edu	37	chr1	247875341	247875341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagatgcgaggagcacgtGgagaaggctttgctccggcc	17	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247875341G>A	ENST00000302084.2	-	1	764	c.717C>T	c.(715-717)tcC>tcT	p.S239S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, 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)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGAGCACGTGGAGAAGGCTT	0.517																																																	0								ENSG00000169214						117	106	110					1																	247875341		2203	4300	6503	OR6F1	SO:0001819	synonymous_variant	0			-	HGNC	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.717C>T	1.37:g.247875341G>A		Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	115	18.31	B2RNV6|Q6IF02|Q96R39	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239	ENST00000302084.2	37	c.717	CCDS31095.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	protein_coding	OTTHUMT00000096870.1	G	NM_001005286	-		247875341	-1	no_errors	ENST00000302084	ensembl	human	known	74_37	silent	SNP	0.997	A	A	247875341	G	A	247875341	2	1	196	1	0	0	0	0	0	0	0	1	11203	1335	47	2		2	OR6F1	1	247875341	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	180077	247875341	1375280	263	13535											
OR6F1	343169	genome.wustl.edu	37	chr1	247875800	247875800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatggtctgacttctcccCagtaggatggccagtgcttt	11	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247875800C>T	ENST00000302084.2	-	1	305	c.258G>A	c.(256-258)ctG>ctA	p.L86L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	86						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(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACTTCTCCCCAGTAGGATGG	0.478																																																	0								ENSG00000169214						115	115	115					1																	247875800		2203	4300	6503	OR6F1	SO:0001819	synonymous_variant	0			-	HGNC	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.258G>A	1.37:g.247875800C>T		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33	B2RNV6|Q6IF02|Q96R39	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L86	ENST00000302084.2	37	c.258	CCDS31095.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	protein_coding	OTTHUMT00000096870.1	C	NM_001005286	-		247875800	-1	no_errors	ENST00000302084	ensembl	human	known	74_37	silent	SNP	0.000	T	T	247875800	C	T	247875800	2	4	196	1	0	0	0	0	0	0	0	1	11203	581	21	2		2	OR6F1	1	247875800	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	459	247875800	1374821	264	13536											
OR2L8	391190	genome.wustl.edu	37	chr1	248112520	248112520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcatctatggcctatgatCgttacattgctatttgcttt	8	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248112520C>T	ENST00000357191.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121C(2)|p.R121S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCTATGATCGTTACATTGC	0.443																																																	3	Substitution - Missense(3)	lung(3)						ENSG00000196936						303	257	273					1																	248112520		2203	4300	6503	OR2L8	SO:0001583	missense	0			-	HGNC	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.361C>T	1.37:g.248112520C>T	ENSP00000349719:p.Arg121Cys	Somatic	0	77	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	87	14.71	Q6IF03	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R121C	ENST00000357191.3	37	c.361	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	9.405	1.078897	0.20227	.	.	ENSG00000196936	ENST00000357191	T	0.77358	-1.09	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.77363	0.4119	M	0.86343	2.81	0.43360	D	0.995436	B	0.34103	0.437	B	0.27170	0.077	T	0.79555	-0.1755	10	0.72032	D	0.01	.	11.1275	0.48328	0.0:1.0:0.0:0.0	.	121	Q8NGY9	OR2L8_HUMAN	C	121	ENSP00000349719:R121C	ENSP00000349719:R121C	R	+	1	0	OR2L8	246179143	0.522000	0.26266	0.049000	0.19019	0.036000	0.12997	0.737000	0.26144	0.905000	0.36596	0.479000	0.44913	CGT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	protein_coding	OTTHUMT00000096853.2	C		-		248112520	1	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	SNP	0.996	T	T	248112520	C	T	248112520	3	4	196	1	0	0	0	0	1	0	0	0	11011	884	31	1	363	1	OR2L8	1	248112520	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	236720	248112520	1138101	265	13537											
OR2M5	127059	genome.wustl.edu	37	chr1	248309347	248309347	+	Missense_Mutation	SNP	G	G	A													gcaacaaggaggtgaccagaGcactcaggaaagtgttagga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248309347G>A	ENST00000366476.1	+	1	898	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GGTGACCAGAGCACTCAGGAA	0.463																																																	0								ENSG00000162727						69	64	66					1																	248309347		2203	4300	6503	OR2M5	SO:0001583	missense	0			-	HGNC		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.898G>A	1.37:g.248309347G>A	ENSP00000355432:p.Ala300Thr	Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	49	45.56		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A300T	ENST00000366476.1	37	c.898	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.474712	0.43942	.	.	ENSG00000162727	ENST00000366476	T	0.42131	0.98	3.01	2.07	0.26955	.	.	.	.	.	T	0.55737	0.1939	M	0.86502	2.82	0.09310	N	1	P	0.48764	0.915	P	0.49597	0.616	T	0.50423	-0.8830	9	0.72032	D	0.01	.	9.4753	0.38867	0.1134:0.0:0.8866:0.0	.	300	A3KFT3	OR2M5_HUMAN	T	300	ENSP00000355432:A300T	ENSP00000355432:A300T	A	+	1	0	OR2M5	246375970	0.000000	0.05858	0.047000	0.18901	0.140000	0.21249	-0.444000	0.06854	0.343000	0.23821	0.385000	0.25706	GCA	-	NULL		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	protein_coding	OTTHUMT00000097343.1	G	NM_001004690	-		248309347	1	no_errors	ENST00000366476	ensembl	human	known	74_37	missense	SNP	0.010	A	A	248309347	G	A	248309347	3	1	196	1	0	0	0	0	1	0	0	0	11015	971	34	2	900	2	OR2M5	1	248309347	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	196827	248309347	941274	266	13538	220	2									
OR2M5	127059	genome.wustl.edu	37	chr1	248309349	248309349	+	Silent	SNP	A	A	C													aacaaggaggtgaccagagcActcaggaaagtgttaggaaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248309349A>C	ENST00000366476.1	+	1	900	c.900A>C	c.(898-900)gcA>gcC	p.A300A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGACCAGAGCACTCAGGAAAG	0.468																																																	0								ENSG00000162727						67	62	64					1																	248309349		2203	4300	6503	OR2M5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.900A>C	1.37:g.248309349A>C		Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	49	44.94		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A300	ENST00000366476.1	37	c.900	CCDS31105.1	1																																																																																			-	NULL		0.468	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	protein_coding	OTTHUMT00000097343.1	A	NM_001004690	-		248309349	1	no_errors	ENST00000366476	ensembl	human	known	74_37	silent	SNP	0.000	C	C	248309349	A	C	248309349	2	2	196	1	0	0	0	0	0	0	0	1	11015	146	6	5		5	OR2M5	1	248309349	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2	248309349	941272	267	13539	220	2									
OR2T33	391195	genome.wustl.edu	37	chr1	248436694	248436694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaacacgacatggtcatCctcaggcacagctgccagct	9	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248436694C>T	ENST00000318021.2	-	1	444	c.423G>A	c.(421-423)agG>agA	p.R141R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	141						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(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACATGGTCATCCTCAGGCACA	0.577																																																	0								ENSG00000177212						130	125	126					1																	248436694		2203	4300	6503	OR2T33	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.423G>A	1.37:g.248436694C>T		Somatic	0	107	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	142	26.29	B2RNN0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R141	ENST00000318021.2	37	c.423	CCDS31109.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	protein_coding	OTTHUMT00000097354.1	C	NM_001004695	-		248436694	-1	no_errors	ENST00000318021	ensembl	human	known	74_37	silent	SNP	0.000	T	T	248436694	C	T	248436694	2	4	196	1	0	0	0	0	0	0	0	1	11026	854	30	2		2	OR2T33	1	248436694	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	127345	248436694	813927	268	13540											
OR2T6	254879	genome.wustl.edu	37	chr1	248551773	248551773	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acacccttattaaaccctctCatctacagtctgaggaacag	5	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248551773C>T	ENST00000355728.2	+	1	864	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	288						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(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TAAACCCTCTCATCTACAGTC	0.453																																																	0								ENSG00000198104						83	82	82					1																	248551773		2203	4300	6503	OR2T6	SO:0001819	synonymous_variant	0			-	HGNC	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.864C>T	1.37:g.248551773C>T		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	31.82	A6NE36	Silent	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L288	ENST00000355728.2	37	c.864	CCDS31114.1	1																																																																																			-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	protein_coding	OTTHUMT00000097344.1	C	NM_001005471	-		248551773	1	no_errors	ENST00000355728	ensembl	human	known	74_37	silent	SNP	0.133	T	T	248551773	C	T	248551773	2	4	196	1	0	0	0	0	0	0	0	1	11031	813	29	2		2	OR2T6	1	248551773	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	115079	248551773	698848	269	13541											
OR2G6	391211	genome.wustl.edu	37	chr1	248685894	248685894	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacaaagccacaaggActaggaaacacctggaattc	10	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248685894A>T	ENST00000343414.4	+	1	979	c.947A>T	c.(946-948)gAc>gTc	p.D316V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCCACAAGGACTAGGAAACA	0.488																																																	0								ENSG00000188558						33	31	32					1																	248685894		2201	4291	6492	OR2G6	SO:0001583	missense	0			-	HGNC		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.947A>T	1.37:g.248685894A>T	ENSP00000341291:p.Asp316Val	Somatic	0	94	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	93	22.95	B2RP33	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D316V	ENST00000343414.4	37	c.947	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	9.545	1.114404	0.20795	.	.	ENSG00000188558	ENST00000343414	T	0.08634	3.07	0.84	-0.542	0.11854	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41645	-0.9497	9	0.66056	D	0.02	.	1.3352	0.02143	0.4088:0.0:0.2507:0.3404	.	316	Q5TZ20	OR2G6_HUMAN	V	316	ENSP00000341291:D316V	ENSP00000341291:D316V	D	+	2	0	OR2G6	246752517	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.153000	0.03169	-0.227000	0.09884	0.329000	0.21502	GAC	-	NULL		0.488	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	protein_coding	OTTHUMT00000097358.1	A	XM_372842	-		248685894	1	no_errors	ENST00000343414	ensembl	human	known	74_37	missense	SNP	0.000	T	T	248685894	A	T	248685894	3	4	196	1	0	0	0	0	1	0	0	0	11002	275	10	5	949	5	OR2G6	1	248685894	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	134121	248685894	564727	270	13542											
PGBD2	267002	genome.wustl.edu	37	chr1	249210871	249210871	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaggttctgaatgctAtggaggaggaagagtccaac	14	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:249210871A>T	ENST00000329291.5	+	3	235	c.88A>T	c.(88-90)Atg>Ttg	p.M30L	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.M27L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGAATGCTATGGAGGAGGA	0.478																																																	0								ENSG00000185220						81	79	79					1																	249210871		2203	4300	6503	PGBD2	SO:0001583	missense	0			-	HGNC	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.88A>T	1.37:g.249210871A>T	ENSP00000331643:p.Met30Leu	Somatic	0	34	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	62	16.22	B3KVR8|Q6MZF8	Missense_Mutation	SNP							NULL	p.M30L	ENST00000329291.5	37	c.88	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	A	1.087	-0.665277	0.03428	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.09255	3.03;3.0	4.08	-1.25	0.09405	.	0.347566	0.16230	N	0.223646	T	0.01523	0.0049	N	0.00268	-1.735	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40496	-0.9560	10	0.02654	T	1	-3.4063	3.5257	0.07759	0.1846:0.3968:0.0:0.4186	.	27;30	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	L	30;27	ENSP00000331643:M30L;ENSP00000439950:M27L	ENSP00000331643:M30L	M	+	1	0	PGBD2	247177494	0.210000	0.23517	0.133000	0.22050	0.911000	0.54048	-0.194000	0.09559	-0.363000	0.08101	-0.213000	0.12676	ATG	-	NULL		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	protein_coding	OTTHUMT00000097318.1	A		-		249210871	1	no_errors	ENST00000329291	ensembl	human	known	74_37	missense	SNP	0.379	T	T	249210871	A	T	249210871	3	4	196	1	0	0	0	0	1	0	0	0	11783	449	16	5	94	5	PGBD2	1	249210871	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	524977	249210871	39750	271	13543											
CMPK2	129607	genome.wustl.edu	37	chr2	6991588	6991588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggacacctacttttgacGaaacacactgttggcctcaa	8	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:6991588G>A	ENST00000256722.5	-	4	1218	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000404168.1_Missense_Mutation_p.R407C|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	407					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACTTTTGACGAAACACACTG	0.542																																																	0								ENSG00000134326						108	111	110					2																	6991588		2085	4218	6303	CMPK2	SO:0001583	missense	0			-	HGNC		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.1219C>T	2.37:g.6991588G>A	ENSP00000256722:p.Arg407Cys	Somatic	0	44	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit	p.R407C	ENST00000256722.5	37	c.1219	CCDS42648.1	2	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384803	0.61956	.	.	ENSG00000134326	ENST00000256722;ENST00000404168	D	0.94417	-3.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.97306	0.9119	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97998	1.0358	10	0.87932	D	0	-10.6493	18.552	0.91068	0.0:0.0:1.0:0.0	.	407	Q5EBM0	CMPK2_HUMAN	C	407	ENSP00000256722:R407C	ENSP00000256722:R407C	R	-	1	0	CMPK2	6909039	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	1.939000	0.40213	2.446000	0.82766	0.462000	0.41574	CGT	-	pirsf_UMP-CMP_kinase_mit		0.542	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CMPK2	protein_coding	OTTHUMT00000323339.2	G	NM_207315	-		6991588	-1	no_errors	ENST00000404168	ensembl	human	putative	74_37	missense	SNP	1.000	A	A	6991588	G	A	6991588	3	1	196	1	0	0	0	0	1	0	0	0	3583	1058	37	1	138	1	CMPK2	2	6991588	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		6991588	236207785	272	13544											
NOL10	79954	genome.wustl.edu	37	chr2	10742991	10742991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagcaaatggatttaccaTcagtttcaccttttcaaaat	4	8	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:10742991T>G	ENST00000381685.5	-	16	1348	c.1243A>C	c.(1243-1245)Atg>Ctg	p.M415L	NOL10_ENST00000345985.3_Missense_Mutation_p.M365L|NOL10_ENST00000542668.1_Missense_Mutation_p.M365L|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.M389L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	415						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GGATTTACCATCAGTTTCACC	0.294																																																	0								ENSG00000115761						86	89	88					2																	10742991		2201	4299	6500	NOL10	SO:0001583	missense	0			-	HGNC	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1243A>C	2.37:g.10742991T>G	ENSP00000371101:p.Met415Leu	Somatic	0	62	0		0.52429534266604	34	46.88	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	37	45.59	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP							pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.M415L	ENST00000381685.5	37	c.1243	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304883	0.40795	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.38887	1.11;2.58;2.58;2.58	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	N	0.26130	0.795	0.80722	D	1	B;B;B	0.25955	0.001;0.001;0.138	B;B;B	0.21151	0.004;0.004;0.033	T	0.06588	-1.0818	10	0.30078	T	0.28	-13.1536	15.8894	0.79279	0.0:0.0:0.0:1.0	.	389;415;365	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	L	365;415;365;389	ENSP00000263837:M365L;ENSP00000371101:M415L;ENSP00000437625:M365L;ENSP00000439663:M389L	ENSP00000263837:M365L	M	-	1	0	NOL10	10660442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.150000	0.67090	0.533000	0.62120	ATG	-	NULL		0.294	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	protein_coding	OTTHUMT00000239227.1	T	NM_024894	-		10742991	-1	no_errors	ENST00000381685	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10742991	T	G	10742991	3	3	196	1	0	0	0	0	1	0	0	0	10522	1435	50	5	847	5	NOL10	2	10742991	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3751403	10742991	232456382	273	13545											
VSNL1	7447	genome.wustl.edu	37	chr2	17830793	17830793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctctgtccatcacctcCaggggcagctttgagcagaa	11	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:17830793C>T	ENST00000406397.1	+	3	804	c.279C>T	c.(277-279)tcC>tcT	p.S93S	VSNL1_ENST00000295156.4_Silent_p.S93S|VSNL1_ENST00000404666.2_Silent_p.S93S			P62760	VISL1_HUMAN	visinin-like 1	93	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATCACCTCCAGGGGCAGCT	0.547																																																	0								ENSG00000163032						144	134	137					2																	17830793		2203	4300	6503	VSNL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.279C>T	2.37:g.17830793C>T		Somatic	0	43	0		0.52429534266604	33	49.23	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.S93	ENST00000406397.1	37	c.279	CCDS1689.1	2																																																																																			-	pfscan_EF_hand_dom,prints_Recoverin		0.547	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSNL1	protein_coding	OTTHUMT00000323803.1	C	NM_003385	-		17830793	1	no_errors	ENST00000295156	ensembl	human	known	74_37	silent	SNP	0.986	T	T	17830793	C	T	17830793	2	4	196	1	0	0	0	0	0	0	0	1	17234	581	21	2		2	VSNL1	2	17830793	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7087802	17830793	225368580	274	13546											
GEN1	348654	genome.wustl.edu	37	chr2	17962840	17962840	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttgatatgcaaaccactcgGaaaattttaatgaagaagag	9	5	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:17962840G>T	ENST00000381254.2	+	14	2575	c.2361G>T	c.(2359-2361)cgG>cgT	p.R787R	GEN1_ENST00000317402.7_Silent_p.R787R|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	787					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAACCACTCGGAAAATTTTAA	0.388								Homologous recombination																																									0								ENSG00000178295						73	77	76					2																	17962840		2203	4299	6502	GEN1	SO:0001819	synonymous_variant	0			-	HGNC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2361G>T	2.37:g.17962840G>T		Somatic	0	41	0		0.52429534266604	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q17RS9|Q6ZN37	Silent	SNP							pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.R787	ENST00000381254.2	37	c.2361	CCDS1691.1	2																																																																																			-	NULL		0.388	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	protein_coding	OTTHUMT00000241661.2	G	NM_182625	-		17962840	1	no_errors	ENST00000317402	ensembl	human	known	74_37	silent	SNP	0.015	T	T	17962840	G	T	17962840	2	4	196	1	0	0	0	0	0	0	0	1	6337	1161	41	3		3	GEN1	2	17962840	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	132047	17962840	225236533	275	13547											
KCNS3	3790	genome.wustl.edu	37	chr2	18112493	18112493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactactttgatcggaatcCctccttgttcagatatgttt	7	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:18112493C>T	ENST00000403915.1	+	3	669	c.218C>T	c.(217-219)cCc>cTc	p.P73L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.P73L	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	73					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATCGGAATCCCTCCTTGTTC	0.468																																																	0								ENSG00000170745						126	126	126					2																	18112493		2203	4300	6503	KCNS3	SO:0001583	missense	0			-	HGNC	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.218C>T	2.37:g.18112493C>T	ENSP00000385968:p.Pro73Leu	Somatic	0	69	0		0.52429534266604	12	36.84	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	65	25.29	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.P73L	ENST00000403915.1	37	c.218	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832252	0.71258	.	.	ENSG00000170745	ENST00000403915;ENST00000304101;ENST00000419802	T;T;T	0.79845	0.5;0.5;-1.31	5.72	5.72	0.89469	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049302	0.85682	D	0.000000	D	0.93996	0.8077	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95564	0.8632	10	0.87932	D	0	.	19.8716	0.96853	0.0:1.0:0.0:0.0	.	73	Q9BQ31	KCNS3_HUMAN	L	73	ENSP00000385968:P73L;ENSP00000305824:P73L;ENSP00000400098:P73L	ENSP00000305824:P73L	P	+	2	0	KCNS3	17975974	1.000000	0.71417	0.996000	0.52242	0.721000	0.41392	7.818000	0.86416	2.704000	0.92352	0.563000	0.77884	CCC	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3		0.468	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	protein_coding	OTTHUMT00000323808.1	C	NM_002252	-		18112493	1	no_errors	ENST00000304101	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18112493	C	T	18112493	3	4	196	1	0	0	0	0	1	0	0	0	8092	623	22	2	220	2	KCNS3	2	18112493	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	149653	18112493	225086880	276	13548											
C2orf43	60526	genome.wustl.edu	37	chr2	20939875	20939875	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaacatagagaacatatcGaaaccagcacaaaagtggag	9	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:20939875G>A	ENST00000237822.3	-	5	638	c.559C>T	c.(559-561)Cga>Tga	p.R187*	C2orf43_ENST00000435420.2_Nonsense_Mutation_p.R139*|C2orf43_ENST00000381090.3_Nonsense_Mutation_p.R187*|C2orf43_ENST00000403006.2_Nonsense_Mutation_p.R57*|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000541941.1_Nonsense_Mutation_p.R57*	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	187								p.R187*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATATCGAAACCAGCAC	0.418																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000118961						118	115	116					2																	20939875		2203	4300	6503	C2orf43	SO:0001587	stop_gained	0			-	HGNC	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.559C>T	2.37:g.20939875G>A	ENSP00000237822:p.Arg187*	Somatic	0	58	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	45	40.00	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Nonsense_Mutation	SNP							pfam_DUF2305	p.R187*	ENST00000237822.3	37	c.559	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.554306	0.98355	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947;ENST00000412261	.	.	.	5.61	4.72	0.59763	.	0.056018	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-7.6822	13.8478	0.63479	0.0:0.0:0.8457:0.1542	.	.	.	.	X	57;187;187;139;57;57;139	.	ENSP00000237822:R187X	R	-	1	2	C2orf43	20803356	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	3.868000	0.56055	1.472000	0.48140	0.650000	0.86243	CGA	-	pfam_DUF2305		0.418	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	protein_coding	OTTHUMT00000242861.1	G	NM_021925	-		20939875	-1	no_errors	ENST00000237822	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	20939875	G	A	20939875	4	1	196	1	0	0	0	0	0	1	0	0	2169	1066	37	1	430	1	C2orf43	2	20939875	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2827382	20939875	222259498	277	13549											
APOB	338	genome.wustl.edu	37	chr2	21233941	21233941	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgccagaggttctgctttCaacaggaatttgctatacag	9	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21233941C>T	ENST00000233242.1	-	26	5926	c.5799G>A	c.(5797-5799)ttG>ttA	p.L1933L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1933					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)					GTTCTGCTTTCAACAGGAATT	0.463																																																	0								ENSG00000084674						202	187	192					2																	21233941		2203	4300	6503	APOB	SO:0001819	synonymous_variant	0			-	HGNC	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.5799G>A	2.37:g.21233941C>T		Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	57	35.23	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L1933	ENST00000233242.1	37	c.5799	CCDS1703.1	2																																																																																			-	NULL		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21233941	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	SNP	0.963	T	T	21233941	C	T	21233941	2	4	196	1	0	0	0	0	0	0	0	1	785	825	29	2		2	APOB	2	21233941	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	294066	21233941	221965432	278	13550											
APOB	338	genome.wustl.edu	37	chr2	21235215	21235215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgagccggccagtgttagGatccctctgacaagacaggc	12	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21235215G>A	ENST00000233242.1	-	26	4652	c.4525C>T	c.(4525-4527)Cct>Tct	p.P1509S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1509					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)					CCAGTGTTAGGATCCCTCTGA	0.468																																																	0								ENSG00000084674						134	130	131					2																	21235215		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.4525C>T	2.37:g.21235215G>A	ENSP00000233242:p.Pro1509Ser	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	76	32.14	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P1509S	ENST00000233242.1	37	c.4525	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366734	0.24771	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.88	-7.27	0.01461	.	1.545270	0.03683	N	0.245872	T	0.00412	0.0013	N	0.03115	-0.41	0.09310	N	0.999996	B	0.12013	0.005	B	0.08055	0.003	T	0.49293	-0.8955	10	0.19147	T	0.46	.	5.5153	0.16904	0.4968:0.3002:0.1295:0.0736	.	1509	P04114	APOB_HUMAN	S	1509	ENSP00000233242:P1509S	ENSP00000233242:P1509S	P	-	1	0	APOB	21088720	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.847000	0.04331	-1.328000	0.02261	0.655000	0.94253	CCT	-	NULL		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G		-		21235215	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.000	A	A	21235215	G	A	21235215	3	1	196	1	0	0	0	0	1	0	0	0	785	1174	41	2	9182	2	APOB	2	21235215	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1274	21235215	221964158	279	13551											
APOB	338	genome.wustl.edu	37	chr2	21245744	21245744	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtctctttggggaaggaatGataaacttcagcttcccagc	11	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21245744G>A	ENST00000233242.1	-	18	2902	c.2775C>T	c.(2773-2775)atC>atT	p.I925I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	925	Heparin-binding.				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)					GGGAAGGAATGATAAACTTCA	0.502																																																	0								ENSG00000084674						71	63	66					2																	21245744		2203	4300	6503	APOB	SO:0001819	synonymous_variant	0			-	HGNC	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.2775C>T	2.37:g.21245744G>A		Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	89	12.75	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I925	ENST00000233242.1	37	c.2775	CCDS1703.1	2																																																																																			-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G		-		21245744	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	SNP	0.096	A	A	21245744	G	A	21245744	2	1	196	1	0	0	0	0	0	0	0	1	785	1280	45	2		2	APOB	2	21245744	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10529	21245744	221953629	280	13552											
C2orf44	80304	genome.wustl.edu	37	chr2	24262260	24262260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagccgcaaatcagttagGacaacttgattcccatcggt	9	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:24262260G>A	ENST00000295148.4	-	2	162	c.105C>T	c.(103-105)gtC>gtT	p.V35V	C2orf44_ENST00000406895.3_Silent_p.V35V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	35									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCAGTTAGGACAACTTGAT	0.512			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0								ENSG00000163026						119	105	110					2																	24262260		2203	4300	6503	C2orf44	SO:0001819	synonymous_variant	0			-	HGNC	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.105C>T	2.37:g.24262260G>A		Somatic	0	34	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	D6W532|Q8IYK0|Q9HBP5	Silent	SNP							NULL	p.V35	ENST00000295148.4	37	c.105	CCDS1705.1	2																																																																																			-	NULL		0.512	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	protein_coding	OTTHUMT00000246825.1	G	NM_025203	-		24262260	-1	no_errors	ENST00000295148	ensembl	human	known	74_37	silent	SNP	0.988	A	A	24262260	G	A	24262260	2	1	196	1	0	0	0	0	0	0	0	1	2170	1161	41	2		2	C2orf44	2	24262260	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3016516	24262260	218937113	281	13553											
NCOA1	8648	genome.wustl.edu	37	chr2	24930035	24930035	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctcaggcagatgagcTcacagaattcacctagcaga	9	12	3	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:24930035T>G	ENST00000406961.1	+	13	2348	c.1696T>G	c.(1696-1698)Tca>Gca	p.S566A	NCOA1_ENST00000395856.3_Missense_Mutation_p.S566A|NCOA1_ENST00000538539.1_Missense_Mutation_p.S566A|NCOA1_ENST00000288599.5_Missense_Mutation_p.S566A|NCOA1_ENST00000405141.1_Missense_Mutation_p.S566A|NCOA1_ENST00000348332.3_Missense_Mutation_p.S566A|NCOA1_ENST00000407230.1_Missense_Mutation_p.S415A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	566	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGATGAGCTCACAGAATTC	0.393			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								ENSG00000084676						52	55	54					2																	24930035		2203	4299	6502	NCOA1	SO:0001583	missense	0			-	HGNC	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1696T>G	2.37:g.24930035T>G	ENSP00000385216:p.Ser566Ala	Somatic	0	46	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	52	38.10	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP							pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.S566A	ENST00000406961.1	37	c.1696	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567482	0.28003	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02216	4.51;4.51;4.39;4.51;4.51;4.51;4.51	5.74	5.74	0.90152	.	0.191761	0.46145	D	0.000306	T	0.03783	0.0107	L	0.59436	1.845	0.45733	D	0.998636	P;B;P;B	0.36837	0.571;0.435;0.571;0.39	B;B;B;B	0.41510	0.359;0.197;0.359;0.172	T	0.48758	-0.9007	10	0.07990	T	0.79	.	11.4798	0.50318	0.1346:0.0:0.0:0.8654	.	566;566;566;415	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	A	566;566;415;566;566;566;566	ENSP00000385216:S566A;ENSP00000385097:S566A;ENSP00000385195:S415A;ENSP00000444039:S566A;ENSP00000320940:S566A;ENSP00000288599:S566A;ENSP00000379197:S566A	ENSP00000288599:S566A	S	+	1	0	NCOA1	24783539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.831000	0.39141	2.193000	0.70182	0.533000	0.62120	TCA	-	pirsf_Nuclear_rcpt_coactivator		0.393	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	protein_coding	OTTHUMT00000246852.3	T	NM_147223	-		24930035	1	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	SNP	1.000	G	G	24930035	T	G	24930035	3	3	196	1	0	0	0	0	1	0	0	0	10230	1551	54	5	1730	5	NCOA1	2	24930035	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	667775	24930035	218269338	282	13554											
ADCY3	109	genome.wustl.edu	37	chr2	25095477	25095477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccaggttcatcttcacctCcagcgactggcgggcctcca	9	16	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:25095477C>T	ENST00000260600.5	-	2	1638	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	263					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)					ATCTTCACCTCCAGCGACTGG	0.632																																																	0								ENSG00000138031						97	100	99					2																	25095477		2203	4300	6503	ADCY3	SO:0001583	missense	0			-	HGNC	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.787G>A	2.37:g.25095477C>T	ENSP00000260600:p.Glu263Lys	Somatic	0	48	0		0.52429534266604	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	69	28.87	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP							pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E263K	ENST00000260600.5	37	c.787	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.169358	0.94768	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	T;T;T	0.81415	-1.49;-1.49;-1.41	5.24	5.24	0.73138	.	0.052402	0.85682	D	0.000000	D	0.86535	0.5956	M	0.75615	2.305	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.53912	0.737;0.737	D	0.86832	0.2011	10	0.45353	T	0.12	.	17.3652	0.87362	0.0:1.0:0.0:0.0	.	263;263	B7ZLX9;O60266	.;ADCY3_HUMAN	K	263;238;29;41	ENSP00000260600:E263K;ENSP00000399275:E29K;ENSP00000401455:E41K	ENSP00000260600:E263K	E	-	1	0	ADCY3	24948981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.483000	0.66838	2.430000	0.82344	0.591000	0.81541	GAG	-	NULL		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	protein_coding	OTTHUMT00000211574.2	C		-		25095477	-1	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25095477	C	T	25095477	3	4	196	1	0	0	0	0	1	0	0	0	295	864	30	2	2727	2	ADCY3	2	25095477	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	165442	25095477	218103896	283	13555											
OTOF	9381	genome.wustl.edu	37	chr2	26697461	26697461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtactcgagctgaggtgGgaagcggggtgggcagtacg	20	6	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:26697461G>A	ENST00000272371.2	-	26	3334	c.3208C>T	c.(3208-3210)Cca>Tca	p.P1070S	OTOF_ENST00000402415.3_Missense_Mutation_p.P380S|OTOF_ENST00000339598.3_Missense_Mutation_p.P323S|OTOF_ENST00000403946.3_Missense_Mutation_p.P1070S|OTOF_ENST00000338581.6_Missense_Mutation_p.P323S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1070					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGAGGTGGGAAGCGGGGT	0.627																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155						84	71	76					2																	26697461		2203	4300	6503	OTOF	SO:0001583	missense	0			-	HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3208C>T	2.37:g.26697461G>A	ENSP00000272371:p.Pro1070Ser	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	39.06	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1070S	ENST00000272371.2	37	c.3208	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	g	27.6	4.845442	0.91197	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.58	4.7	0.59300	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82793	0.5114	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.995	D;D;D;D	0.87578	0.997;0.979;0.998;0.948	D	0.85604	0.1254	10	0.66056	D	0.02	-31.1811	15.5065	0.75745	0.0:0.0:0.8603:0.1397	.	1070;323;380;323	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	323;323;380;1070;1070	ENSP00000345137:P323S;ENSP00000344521:P323S;ENSP00000383906:P380S;ENSP00000272371:P1070S;ENSP00000385255:P1070S	ENSP00000272371:P1070S	P	-	1	0	OTOF	26550965	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.925000	0.87563	1.354000	0.45846	0.556000	0.70494	CCA	-	superfamily_C2_dom		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	G		-		26697461	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26697461	G	A	26697461	3	1	196	1	0	0	0	0	1	0	0	0	11305	1232	43	2	3054	2	OTOF	2	26697461	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1601984	26697461	216501912	284	13556											
SLC30A3	7781	genome.wustl.edu	37	chr2	27480070	27480070	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaccccaaagctctgcagGaggtcccccagcacgtgcac	10	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:27480070G>A	ENST00000233535.4	-	5	1081	c.729C>T	c.(727-729)ctC>ctT	p.L243L	SLC30A3_ENST00000447008.2_Silent_p.L238L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	243					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCTGCAGGAGGTCCCCCA	0.632																																																	0								ENSG00000115194						72	69	70					2																	27480070		2203	4300	6503	SLC30A3	SO:0001819	synonymous_variant	0			-	HGNC	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.729C>T	2.37:g.27480070G>A		Somatic	0	73	0		0.52429534266604	8	20	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	121	15.97	Q8TC03	Silent	SNP							pfam_Cation_efflux,tigrfam_Cation_efflux	p.L243	ENST00000233535.4	37	c.729	CCDS1743.1	2																																																																																			-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.632	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	protein_coding	OTTHUMT00000250189.2	G		-		27480070	-1	no_errors	ENST00000233535	ensembl	human	known	74_37	silent	SNP	0.993	A	A	27480070	G	A	27480070	2	1	196	1	0	0	0	0	0	0	0	1	14564	1161	41	2		2	SLC30A3	2	27480070	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	782609	27480070	215719303	285	13557											
IFT172	26160	genome.wustl.edu	37	chr2	27684264	27684264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccagctttgaggtagaGgctgatggctgctagcccat	14	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:27684264G>A	ENST00000260570.3	-	22	2417	c.2314C>T	c.(2314-2316)Ctc>Ttc	p.L772F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	772					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGAGGTAGAGGCTGATGGCT	0.577																																																	0								ENSG00000138002						102	97	99					2																	27684264		2203	4300	6503	IFT172	SO:0001583	missense	0			-	HGNC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2314C>T	2.37:g.27684264G>A	ENSP00000260570:p.Leu772Phe	Somatic	0	29	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.L772F	ENST00000260570.3	37	c.2314	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394870	0.62066	.	.	ENSG00000138002	ENST00000260570	T	0.66995	-0.24	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.057953	0.64402	D	0.000002	T	0.73885	0.3644	M	0.75884	2.315	0.80722	D	1	P	0.40398	0.716	P	0.48770	0.589	T	0.76041	-0.3104	10	0.56958	D	0.05	-9.441	12.2912	0.54819	0.0828:0.0:0.9172:0.0	.	772	Q9UG01	IF172_HUMAN	F	772	ENSP00000260570:L772F	ENSP00000260570:L772F	L	-	1	0	IFT172	27537768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.575000	0.67430	2.564000	0.86499	0.585000	0.79938	CTC	-	superfamily_ARM-type_fold		0.577	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	protein_coding	OTTHUMT00000250213.2	G	NM_015662	-		27684264	-1	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27684264	G	A	27684264	3	1	196	1	0	0	0	0	1	0	0	0	7559	1000	35	2	3043	2	IFT172	2	27684264	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	204194	27684264	215515109	286	13558											
ZNF512	84450	genome.wustl.edu	37	chr2	27840415	27840415	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagagtggtgtcaagtatCacatcaactccgtccatgct	9	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:27840415C>T	ENST00000355467.4	+	13	1455	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZNF512_ENST00000413371.2_Missense_Mutation_p.H381Y|ZNF512_ENST00000379717.1_Missense_Mutation_p.H457Y|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.H327Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.H429Y	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	458					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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGTCAAGTATCACATCAACTC	0.403																																																	0								ENSG00000243943						119	105	109					2																	27840415		2203	4300	6503	ZNF512	SO:0001583	missense	0			-	HGNC	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1372C>T	2.37:g.27840415C>T	ENSP00000347648:p.His458Tyr	Somatic	0	105	0		0.52429534266604	11	38.89	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	96	19.33	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H458Y	ENST00000355467.4	37	c.1372	CCDS1758.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840050	0.91117	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.34521	1.04	0.58432	D	0.99999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.81914	0.995;0.995;0.995	T	0.69928	-0.5012	9	0.87932	D	0	-13.3637	16.5112	0.84286	0.0:1.0:0.0:0.0	.	353;429;458	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	Y	457;458;327;429;381	.	ENSP00000347648:H458Y	H	+	1	0	ZNF512	27693919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.516000	0.73755	2.675000	0.91044	0.655000	0.94253	CAC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	protein_coding	OTTHUMT00000215029.2	C	NM_032434	-		27840415	1	no_errors	ENST00000355467	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27840415	C	T	27840415	3	4	196	1	0	0	0	0	1	0	0	0	17963	826	29	2	1422	2	ZNF512	2	27840415	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	156151	27840415	215358958	287	13559											
C2orf71	388939	genome.wustl.edu	37	chr2	29294163	29294163	+	Missense_Mutation	SNP	G	G	A													agaggcctttctgcccacagGggggcttctctctcggctct					rs184281410	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:29294163G>A	ENST00000331664.5	-	1	2964	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	989					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGCCCACAGGGGGGCTTCTC	0.637																																																	0								ENSG00000179270	G	SER/PRO	1,3811		0,1,1905	39	42	41		2965	-5.1	0	2		41	0,8218		0,0,4109	no	missense	C2orf71	NM_001029883.1	74	0,1,6014	AA,AG,GG		0.0,0.0262,0.0083	benign	989/1289	29294163	1,12029	1906	4109	6015	C2orf71	SO:0001583	missense	0			-	HGNC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2965C>T	2.37:g.29294163G>A	ENSP00000332809:p.Pro989Ser	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59		Missense_Mutation	SNP							NULL	p.P989S	ENST00000331664.5	37	c.2965	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.527381	0.00959	2.62E-4	0.0	ENSG00000179270	ENST00000331664	T	0.18174	2.23	4.99	-5.05	0.02955	.	1.558150	0.03413	N	0.205082	T	0.14227	0.0344	L	0.38175	1.15	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.36672	-0.9738	10	0.46703	T	0.11	0.4574	9.8081	0.40805	0.0592:0.4591:0.345:0.1367	.	989	A6NGG8	CB071_HUMAN	S	989	ENSP00000332809:P989S	ENSP00000332809:P989S	P	-	1	0	C2orf71	29147667	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.242000	0.02908	-0.925000	0.03775	-3.076000	0.00066	CCT	-	NULL		0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	protein_coding	OTTHUMT00000324924.3	G	NM_001029883	-		29294163	-1	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	SNP	0.000	A	A	29294163	G	A	29294163	3	1	196	1	0	0	0	0	1	0	0	0	2193	1232	43	2	909	2	C2orf71	2	29294163	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1453748	29294163	213905210	288	13560	221	2									
C2orf71	388939	genome.wustl.edu	37	chr2	29294164	29294164	+	Silent	SNP	G	G	A													gaggcctttctgcccacaggGgggcttctctctcggctctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:29294164G>A	ENST00000331664.5	-	1	2963	c.2964C>T	c.(2962-2964)ccC>ccT	p.P988P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	988					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCCACAGGGGGGCTTCTCT	0.637																																																	0								ENSG00000179270						38	42	41					2																	29294164		1909	4111	6020	C2orf71	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2964C>T	2.37:g.29294164G>A		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	42	28.81		Silent	SNP							NULL	p.P988	ENST00000331664.5	37	c.2964	CCDS42669.1	2																																																																																			-	NULL		0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	protein_coding	OTTHUMT00000324924.3	G	NM_001029883	-		29294164	-1	no_errors	ENST00000331664	ensembl	human	known	74_37	silent	SNP	0.011	A	A	29294164	G	A	29294164	2	1	196	1	0	0	0	0	0	0	0	1	2193	1219	43	2		2	C2orf71	2	29294164	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	29294164	213905209	289	13561	221	2									
C2orf71	388939	genome.wustl.edu	37	chr2	29295748	29295748	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttccacagagaccccaatCccaaaggaatcacatggggt	10	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:29295748C>T	ENST00000331664.5	-	1	1379	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	460					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGACCCCAATCCCAAAGGAAT	0.557																																																	0								ENSG00000179270						83	87	85					2																	29295748		1992	4172	6164	C2orf71	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1380G>A	2.37:g.29295748C>T		Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.40		Silent	SNP							NULL	p.G460	ENST00000331664.5	37	c.1380	CCDS42669.1	2																																																																																			-	NULL		0.557	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	protein_coding	OTTHUMT00000324924.3	C	NM_001029883	-		29295748	-1	no_errors	ENST00000331664	ensembl	human	known	74_37	silent	SNP	0.000	T	T	29295748	C	T	29295748	2	4	196	1	0	0	0	0	0	0	0	1	2193	842	30	2		2	C2orf71	2	29295748	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1584	29295748	213903625	290	13562											
GALNT14	79623	genome.wustl.edu	37	chr2	31133826	31133826	+	Missense_Mutation	SNP	C	C	A													ggactcacatgggttgacgaCgatttccttgccgttctcgg					rs551834022		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:31133826C>A	ENST00000349752.5	-	15	2239	c.1600G>T	c.(1600-1602)Gtc>Ttc	p.V534F	GALNT14_ENST00000356174.3_Missense_Mutation_p.V501F|GALNT14_ENST00000420311.2_Missense_Mutation_p.V499F|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.V539F|GALNT14_ENST00000406653.1_Missense_Mutation_p.V514F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTTGACGACGATTTCCTTG	0.557																																																	0								ENSG00000158089						189	150	163					2																	31133826		2203	4300	6503	GALNT14	SO:0001583	missense	0			-	HGNC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1600G>T	2.37:g.31133826C>A	ENSP00000288988:p.Val534Phe	Somatic	0	27	0		0.52429534266604	110	3.51	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V534F	ENST00000349752.5	37	c.1600	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528789	0.44969	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.26	5.26	0.73747	Ricin B-related lectin (1);Ricin B lectin (3);	0.062132	0.64402	D	0.000005	T	0.64227	0.2579	M	0.67953	2.075	0.58432	D	0.999998	D;D;D;D	0.89917	0.993;1.0;0.997;1.0	D;D;D;D	0.91635	0.963;0.999;0.991;0.999	T	0.59231	-0.7493	10	0.07990	T	0.79	.	17.6483	0.88154	0.0:1.0:0.0:0.0	.	499;539;534;514	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	F	534;539;514;501;499	ENSP00000288988:V534F;ENSP00000314500:V539F;ENSP00000385435:V514F;ENSP00000348497:V501F;ENSP00000415514:V499F	ENSP00000314500:V539F	V	-	1	0	GALNT14	30987330	0.977000	0.34250	0.056000	0.19401	0.012000	0.07955	3.411000	0.52672	2.458000	0.83093	0.655000	0.94253	GTC	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.557	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	C	NM_024572	-		31133826	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	SNP	0.680	A	A	31133826	C	A	31133826	3	1	196	1	0	0	0	0	1	0	0	0	6214	536	19	3	62	3	GALNT14	2	31133826	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1838078	31133826	212065547	291	13563	222	2									
GALNT14	79623	genome.wustl.edu	37	chr2	31133827	31133827	+	Silent	SNP	G	G	A													gactcacatgggttgacgacGatttccttgccgttctcggt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:31133827G>A	ENST00000349752.5	-	15	2238	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	GALNT14_ENST00000356174.3_Silent_p.I500I|GALNT14_ENST00000420311.2_Silent_p.I498I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I538I|GALNT14_ENST00000406653.1_Silent_p.I513I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	533	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557																																																	0								ENSG00000158089						195	154	168					2																	31133827		2203	4300	6503	GALNT14	SO:0001819	synonymous_variant	0			-	HGNC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1599C>T	2.37:g.31133827G>A		Somatic	0	28	0		0.52429534266604	108	3.57	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I533	ENST00000349752.5	37	c.1599	CCDS1773.2	2																																																																																			-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.557	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	G	NM_024572	-		31133827	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	silent	SNP	0.038	A	A	31133827	G	A	31133827	2	1	196	1	0	0	0	0	0	0	0	1	6214	1048	37	1		1	GALNT14	2	31133827	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	31133827	212065546	292	13564	222	2									
BIRC6	57448	genome.wustl.edu	37	chr2	32774387	32774387	+	Missense_Mutation	SNP	C	C	T													caacaatttttaggttcttgCcagttacataaatcccgtca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:32774387C>T	ENST00000421745.2	+	65	13117	c.12983C>T	c.(12982-12984)gCc>gTc	p.A4328V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4328					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGGTTCTTGCCAGTTACATA	0.363																																					Pancreas(94;175 1509 16028 18060 45422)												0								ENSG00000115760						107	102	103					2																	32774387		2203	4300	6503	BIRC6	SO:0001583	missense	0			-	HGNC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12983C>T	2.37:g.32774387C>T	ENSP00000393596:p.Ala4328Val	Somatic	0	75	0		0.52429534266604	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	58	29.27	Q9ULD1	Missense_Mutation	SNP							pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A4328V	ENST00000421745.2	37	c.12983	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764549	0.89932	.	.	ENSG00000115760	ENST00000421745	T	0.75477	-0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.86920	0.2066	10	0.87932	D	0	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	4328	Q9NR09	BIRC6_HUMAN	V	4328	ENSP00000393596:A4328V	ENSP00000393596:A4328V	A	+	2	0	BIRC6	32627891	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.757000	0.85209	2.669000	0.90835	0.650000	0.86243	GCC	-	NULL		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	C	NM_016252	-		32774387	1	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32774387	C	T	32774387	3	4	196	1	0	0	0	0	1	0	0	0	1438	739	26	2	13241	2	BIRC6	2	32774387	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1640560	32774387	210424986	293	13565	223	2									
BIRC6	57448	genome.wustl.edu	37	chr2	32774388	32774388	+	Silent	SNP	C	C	T													aacaatttttaggttcttgcCagttacataaatcccgtcag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:32774388C>T	ENST00000421745.2	+	65	13118	c.12984C>T	c.(12982-12984)gcC>gcT	p.A4328A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4328					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGGTTCTTGCCAGTTACATAA	0.363																																					Pancreas(94;175 1509 16028 18060 45422)												0								ENSG00000115760						106	102	103					2																	32774388		2203	4300	6503	BIRC6	SO:0001819	synonymous_variant	0			-	HGNC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12984C>T	2.37:g.32774388C>T		Somatic	0	75	0		0.52429534266604	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	60	29.41	Q9ULD1	Silent	SNP							pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A4328	ENST00000421745.2	37	c.12984	CCDS33175.2	2																																																																																			-	NULL		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	C	NM_016252	-		32774388	1	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	SNP	0.819	T	T	32774388	C	T	32774388	2	4	196	1	0	0	0	0	0	0	0	1	1438	581	21	2		2	BIRC6	2	32774388	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	32774388	210424985	294	13566	223	2									
LTBP1	4052	genome.wustl.edu	37	chr2	33335687	33335687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtgtggtgattcaccAtggccagacccaggaatacg	12	11	1	3	rs557403804		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33335687A>T	ENST00000404816.2	+	4	1255	c.902A>T	c.(901-903)cAt>cTt	p.H301L	LTBP1_ENST00000354476.3_Missense_Mutation_p.H301L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	301					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGATTCACCATGGCCAGACC	0.433																																																	0								ENSG00000049323						115	117	117					2																	33335687		2203	4300	6503	LTBP1	SO:0001583	missense	0			-	HGNC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.902A>T	2.37:g.33335687A>T	ENSP00000386043:p.His301Leu	Somatic	0	55	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.H301L	ENST00000404816.2	37	c.902	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	A	6.947	0.544637	0.13312	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80304	-1.36;-1.34	5.51	-2.58	0.06228	.	.	.	.	.	T	0.68531	0.3011	L	0.36672	1.1	0.80722	D	1	B	0.24043	0.096	B	0.26770	0.073	T	0.51482	-0.8700	9	0.26408	T	0.33	.	11.2158	0.48825	0.5802:0.0:0.4198:0.0	.	301	Q14766-4	.	L	301	ENSP00000386043:H301L;ENSP00000346467:H301L	ENSP00000346467:H301L	H	+	2	0	LTBP1	33189191	0.039000	0.19947	0.901000	0.35422	0.017000	0.09413	0.196000	0.17176	-0.462000	0.06984	-1.266000	0.01441	CAT	-	NULL		0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	A	NM_206943	-		33335687	1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	SNP	0.990	T	T	33335687	A	T	33335687	3	4	196	1	0	0	0	0	1	0	0	0	9075	217	8	5	916	5	LTBP1	2	33335687	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	561299	33335687	209863686	295	13567											
LTBP1	4052	genome.wustl.edu	37	chr2	33359995	33359995	+	Missense_Mutation	SNP	C	C	T													tagtgagaatggtcatgctgCcgacaccctgacggccacga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33359995C>T	ENST00000404816.2	+	5	1522	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	LTBP1_ENST00000418533.2_Missense_Mutation_p.A64V|LTBP1_ENST00000354476.3_Missense_Mutation_p.A390V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A64V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A64V|LTBP1_ENST00000404525.1_Missense_Mutation_p.A64V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A64V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	390					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTCATGCTGCCGACACCCTG	0.517																																																	0								ENSG00000049323						89	74	79					2																	33359995		2203	4300	6503	LTBP1	SO:0001583	missense	0			-	HGNC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1169C>T	2.37:g.33359995C>T	ENSP00000386043:p.Ala390Val	Somatic	0	33	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A390V	ENST00000404816.2	37	c.1169	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442573	0.83993	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;T;T;T;T;T;T	0.81499	-1.5;-1.48;-1.42;-1.39;-1.41;-1.4;-1.39	5.71	5.71	0.89125	.	.	.	.	.	D	0.87704	0.6244	L	0.52573	1.65	0.80722	D	1	D;D;P;D;D;D	0.89917	0.994;1.0;0.93;0.998;1.0;0.997	P;D;P;D;D;D	0.91635	0.888;0.999;0.734;0.93;0.999;0.948	D	0.85928	0.1450	9	0.40728	T	0.16	.	19.854	0.96750	0.0:1.0:0.0:0.0	.	390;64;64;64;64;390	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	V	390;390;79;64;64;64;64;64	ENSP00000386043:A390V;ENSP00000346467:A390V;ENSP00000374653:A64V;ENSP00000393057:A64V;ENSP00000384373:A64V;ENSP00000385359:A64V;ENSP00000384091:A64V	ENSP00000346467:A390V	A	+	2	0	LTBP1	33213499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.729000	0.84864	2.699000	0.92147	0.462000	0.41574	GCC	-	NULL		0.517	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	C	NM_206943	-		33359995	1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33359995	C	T	33359995	3	4	196	1	0	0	0	0	1	0	0	0	9075	739	26	2	1242	2	LTBP1	2	33359995	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	24308	33359995	209839378	296	13568	224	2									
LTBP1	4052	genome.wustl.edu	37	chr2	33359996	33359996	+	Silent	SNP	C	C	T													agtgagaatggtcatgctgcCgacaccctgacggccacgaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33359996C>T	ENST00000404816.2	+	5	1523	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	LTBP1_ENST00000418533.2_Silent_p.A64A|LTBP1_ENST00000354476.3_Silent_p.A390A|LTBP1_ENST00000407925.1_Silent_p.A64A|LTBP1_ENST00000402934.1_Silent_p.A64A|LTBP1_ENST00000404525.1_Silent_p.A64A|LTBP1_ENST00000390003.4_Silent_p.A64A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	390					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCATGCTGCCGACACCCTGA	0.522																																																	0								ENSG00000049323						89	73	79					2																	33359996		2203	4300	6503	LTBP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1170C>T	2.37:g.33359996C>T		Somatic	0	33	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A390	ENST00000404816.2	37	c.1170	CCDS33177.2	2																																																																																			-	NULL		0.522	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	C	NM_206943	-		33359996	1	no_errors	ENST00000354476	ensembl	human	known	74_37	silent	SNP	0.995	T	T	33359996	C	T	33359996	2	4	196	1	0	0	0	0	0	0	0	1	9075	639	23	1		1	LTBP1	2	33359996	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	33359996	209839377	297	13569	224	2									
CEBPZ	10153	genome.wustl.edu	37	chr2	37455747	37455747	+	Nonsense_Mutation	SNP	G	G	A													agatacaacatcctgaggctGgggtttcaaagaatattcat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:37455747G>A	ENST00000234170.5	-	2	734	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	197					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGAGGCTGGGGTTTCAAA	0.388																																																	0								ENSG00000115816						120	124	123					2																	37455747		2203	4300	6503	CEBPZ	SO:0001587	stop_gained	0			-	HGNC	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.589C>T	2.37:g.37455747G>A	ENSP00000234170:p.Gln197*	Somatic	0	38	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q8NE75	Nonsense_Mutation	SNP							pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q197*	ENST00000234170.5	37	c.589	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741215	0.89573	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000234170:Q197X	Q	-	1	0	CEBPZ	37309251	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.344000	0.79328	2.666000	0.90696	0.655000	0.94253	CAG	-	NULL		0.388	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	protein_coding	OTTHUMT00000218569.2	G	NM_005760	-		37455747	-1	no_errors	ENST00000234170	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	37455747	G	A	37455747	4	1	196	1	0	0	0	0	0	1	0	0	3206	1357	47	2	2635	2	CEBPZ	2	37455747	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4095751	37455747	205743626	298	13570	225	2									
CEBPZ	10153	genome.wustl.edu	37	chr2	37455748	37455748	+	Silent	SNP	G	G	A													gatacaacatcctgaggctgGggtttcaaagaatattcatt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:37455748G>A	ENST00000234170.5	-	2	733	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	196					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCTGAGGCTGGGGTTTCAAAG	0.383																																																	0								ENSG00000115816						121	124	123					2																	37455748		2203	4300	6503	CEBPZ	SO:0001819	synonymous_variant	0			-	HGNC	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.588C>T	2.37:g.37455748G>A		Somatic	0	35	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	Q8NE75	Silent	SNP							pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.P196	ENST00000234170.5	37	c.588	CCDS1787.1	2																																																																																			-	NULL		0.383	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	protein_coding	OTTHUMT00000218569.2	G	NM_005760	-		37455748	-1	no_errors	ENST00000234170	ensembl	human	known	74_37	silent	SNP	0.059	A	A	37455748	G	A	37455748	2	1	196	1	0	0	0	0	0	0	0	1	3206	1219	43	2		2	CEBPZ	2	37455748	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	37455748	205743625	299	13571	225	2									
CDKL4	344387	genome.wustl.edu	37	chr2	39414784	39414784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccatgtcttctggctcaGgtatactgatgccatggaaa	9	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:39414784G>A	ENST00000395035.3	-	6	718	c.719C>T	c.(718-720)cCt>cTt	p.P240L	CDKL4_ENST00000378803.1_Missense_Mutation_p.P240L			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTCTGGCTCAGGTATACTGAT	0.308																																																	0								ENSG00000205111						96	103	101					2																	39414784		2203	4300	6503	CDKL4	SO:0001583	missense	0			-	HGNC		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"Cyclin-dependent kinases"	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.719C>T	2.37:g.39414784G>A	ENSP00000378476:p.Pro240Leu	Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	44	47.62	Q2NME9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P240L	ENST00000395035.3	37	c.719		2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466257	0.84425	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.39787	2.95;1.06;1.06	5.15	5.15	0.70609	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	0.53938	D	0.000052	T	0.65037	0.2653	M	0.73598	2.24	0.80722	D	1	D;P	0.89917	1.0;0.845	D;P	0.79784	0.993;0.802	T	0.68949	-0.5274	10	0.72032	D	0.01	-19.6557	16.1422	0.81534	0.0:0.0:1.0:0.0	.	240;240	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	L	22;240;240	ENSP00000389833:P22L;ENSP00000368080:P240L;ENSP00000378476:P240L	ENSP00000368080:P240L	P	-	2	0	CDKL4	39268288	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.935000	0.87658	2.415000	0.81967	0.555000	0.69702	CCT	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.308	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	CDKL4	protein_coding	OTTHUMT00000331655.1	G	XM_293029	-		39414784	-1	no_errors	ENST00000378803	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39414784	G	A	39414784	3	1	196	1	0	0	0	0	1	0	0	0	3158	1000	35	2	240	2	CDKL4	2	39414784	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1959036	39414784	203784589	300	13572											
SLC8A1	6546	genome.wustl.edu	37	chr2	40657359	40657359	+	Missense_Mutation	SNP	A	A	T													aaaataagagactcacagtaActaacagatgaaatcccatt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:40657359A>T	ENST00000403092.1	-	2	95	c.62T>A	c.(61-63)gTt>gAt	p.V21D	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V21D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V21D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V21D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V21D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V21D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V21D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	21					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTCACAGTAACTAACAGATG	0.393																																																	0								ENSG00000183023						97	94	95					2																	40657359		2203	4300	6503	SLC8A1	SO:0001583	missense	0			-	HGNC		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.62T>A	2.37:g.40657359A>T	ENSP00000384763:p.Val21Asp	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.V21D	ENST00000403092.1	37	c.62	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	A	5.350	0.249912	0.10130	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.30182	1.56;1.58;1.58;1.58;1.56;1.56;1.58;1.54;1.56;1.55	6.04	1.8	0.24995	.	0.702014	0.15079	N	0.281761	T	0.24624	0.0597	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.002	B;B;B;B;B	0.12156	0.0;0.0;0.0;0.005;0.007	T	0.25117	-1.0141	10	0.87932	D	0	.	5.9459	0.19219	0.3569:0.1428:0.5003:0.0	.	21;21;21;21;21	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	D	21	ENSP00000383886:V21D;ENSP00000440727:V21D;ENSP00000384763:V21D;ENSP00000385678:V21D;ENSP00000385188:V21D;ENSP00000385535:V21D;ENSP00000332931:V21D;ENSP00000384908:V21D;ENSP00000385811:V21D;ENSP00000443515:V21D	ENSP00000332931:V21D	V	-	2	0	SLC8A1	40510863	0.488000	0.25996	0.086000	0.20670	0.546000	0.35178	0.745000	0.26259	0.389000	0.25086	0.460000	0.39030	GTT	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex		0.393	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	protein_coding	OTTHUMT00000326065.1	A	NM_021097	-		40657359	-1	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	SNP	0.000	T	T	40657359	A	T	40657359	3	4	196	1	0	0	0	0	1	0	0	0	14714	43	2	5	3007	5	SLC8A1	2	40657359	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1242575	40657359	202542014	301	13573	226	2									
SLC8A1	6546	genome.wustl.edu	37	chr2	40657360	40657360	+	Missense_Mutation	SNP	C	C	T													aaataagagactcacagtaaCtaacagatgaaatcccattg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:40657360C>T	ENST00000403092.1	-	2	94	c.61G>A	c.(61-63)Gtt>Att	p.V21I	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V21I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V21I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V21I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V21I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V21I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V21I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	21					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTCACAGTAACTAACAGATGA	0.388																																																	0								ENSG00000183023						97	94	95					2																	40657360		2203	4300	6503	SLC8A1	SO:0001583	missense	0			-	HGNC		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.61G>A	2.37:g.40657360C>T	ENSP00000384763:p.Val21Ile	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.V21I	ENST00000403092.1	37	c.61	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	1.744	-0.491003	0.04322	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.71;1.72;1.71;1.68;1.68;1.72;1.68;1.68;1.68	6.04	1.68	0.24146	.	0.702014	0.15079	N	0.281761	T	0.15696	0.0378	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.002	B;B;B;B;B	0.12156	0.0;0.0;0.0;0.005;0.007	T	0.19647	-1.0299	10	0.36615	T	0.2	.	4.9643	0.14082	0.1504:0.5653:0.0:0.2842	.	21;21;21;21;21	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	I	21	ENSP00000383886:V21I;ENSP00000440727:V21I;ENSP00000384763:V21I;ENSP00000385678:V21I;ENSP00000385188:V21I;ENSP00000385535:V21I;ENSP00000332931:V21I;ENSP00000384908:V21I;ENSP00000385811:V21I;ENSP00000443515:V21I	ENSP00000332931:V21I	V	-	1	0	SLC8A1	40510864	0.777000	0.28628	0.176000	0.23000	0.590000	0.36582	1.429000	0.34903	0.420000	0.25954	0.563000	0.77884	GTT	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex		0.388	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	protein_coding	OTTHUMT00000326065.1	C	NM_021097	-		40657360	-1	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	SNP	0.001	T	T	40657360	C	T	40657360	3	4	196	1	0	0	0	0	1	0	0	0	14714	565	20	2	3008	2	SLC8A1	2	40657360	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	40657360	202542013	302	13574	226	2									
PKDCC	91461	genome.wustl.edu	37	chr2	42281194	42281194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctgcctgagcctgggcCgcctcctccaccacctggcc	10	19	1	2	rs138808294		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:42281194C>T	ENST00000294964.5	+	3	961	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GAGCCTGGGCCGCCTCCTCCA	0.627																																																	0								ENSG00000162878	C	CYS/ARG	0,4406		0,0,2203	64	69	67		781	5.1	1	2	dbSNP_134	67	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PKDCC	NM_138370.2	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	261/494	42281194	3,13003	2203	4300	6503	PKDCC	SO:0001583	missense	0			-	HGNC		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.781C>T	2.37:g.42281194C>T	ENSP00000294964:p.Arg261Cys	Somatic	0	43	0		0.52429534266604	18	61.7	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76		Missense_Mutation	SNP							pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.R261C	ENST00000294964.5	37	c.781	CCDS33186.2	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166441	0.78339	0.0	3.49E-4	ENSG00000162878	ENST00000294964	.	.	.	5.08	5.08	0.68730	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	0.78071	0.4226	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.80799	-0.1221	9	0.72032	D	0.01	-22.7271	17.4887	0.87696	0.0:1.0:0.0:0.0	.	261	Q504Y2	PKDCC_HUMAN	C	261	.	ENSP00000294964:R261C	R	+	1	0	PKDCC	42134698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.700000	0.68318	2.367000	0.80283	0.561000	0.74099	CGC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom		0.627	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	protein_coding	OTTHUMT00000325745.3	C		rs138808294		42281194	1	no_errors	ENST00000294964	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42281194	C	T	42281194	3	4	196	1	0	0	0	0	1	0	0	0	11971	652	23	1	791	1	PKDCC	2	42281194	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1623834	42281194	200918179	303	13575											
LRPPRC	10128	genome.wustl.edu	37	chr2	44175568	44175568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccatcttctccagctgatGgaagtattgtctcaaatgct	7	10	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:44175568G>A	ENST00000260665.7	-	17	1882	c.1825C>T	c.(1825-1827)Cat>Tat	p.H609Y		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	609					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCAGCTGATGGAAGTATTGT	0.388																																																	0								ENSG00000138095						126	112	117					2																	44175568		2203	4300	6503	LRPPRC	SO:0001583	missense	0			-	HGNC	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1825C>T	2.37:g.44175568G>A	ENSP00000260665:p.His609Tyr	Somatic	0	54	0		0.52429534266604	12	29.41	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	57	27.85	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP							pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.H609Y	ENST00000260665.7	37	c.1825	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145097	0.57044	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.58060	0.36	5.72	5.72	0.89469	.	0.200673	0.53938	D	0.000060	T	0.73583	0.3605	M	0.78637	2.42	0.80722	D	1	D;D	0.67145	0.996;0.996	D;P	0.65010	0.931;0.852	T	0.73509	-0.3960	10	0.52906	T	0.07	-7.6383	20.244	0.98389	0.0:0.0:1.0:0.0	.	509;609	F5H4J6;P42704	.;LPPRC_HUMAN	Y	509;609	ENSP00000260665:H609Y	ENSP00000260665:H609Y	H	-	1	0	LRPPRC	44029072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.446000	0.66600	2.865000	0.98341	0.655000	0.94253	CAT	-	NULL		0.388	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	protein_coding	OTTHUMT00000327823.1	G	NM_133259	-		44175568	-1	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44175568	G	A	44175568	3	1	196	1	0	0	0	0	1	0	0	0	8967	1348	47	2	2447	2	LRPPRC	2	44175568	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1894374	44175568	199023805	304	13576											
SLC3A1	6519	genome.wustl.edu	37	chr2	44513183	44513183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgccagttaagtgtgtatGgaaactccagttggcacttt	10	7	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:44513183G>A	ENST00000260649.6	+	4	854	c.778G>A	c.(778-780)Gga>Aga	p.G260R	SLC3A1_ENST00000409741.1_Missense_Mutation_p.G260R|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G260R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G260R|SLC3A1_ENST00000409380.1_5'UTR|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G260R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	260					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAGTGTGTATGGAAACTCCAG	0.403																																																	0								ENSG00000138079						172	164	167					2																	44513183		2203	4300	6503	SLC3A1	SO:0001583	missense	0			-	HGNC		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.778G>A	2.37:g.44513183G>A	ENSP00000260649:p.Gly260Arg	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP							pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.G260R	ENST00000260649.6	37	c.778	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612609	0.87258	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000427285	D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.98	4.98	0.66077	Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.99;0.965;0.98	D;D;D;D;D	0.74674	0.973;0.984;0.973;0.932;0.909	D	0.99120	1.0849	10	0.38643	T	0.18	-16.9064	18.2507	0.90002	0.0:0.0:1.0:0.0	.	260;260;260;260;260	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	R	260;260;196;260;260;260;260;38	ENSP00000260649:G260R;ENSP00000387308:G260R;ENSP00000387337:G260R;ENSP00000386954:G260R;ENSP00000386620:G260R;ENSP00000391642:G38R	ENSP00000260649:G260R	G	+	1	0	SLC3A1	44366687	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	9.269000	0.95684	2.301000	0.77427	0.591000	0.81541	GGA	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.403	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	protein_coding	OTTHUMT00000250676.1	G	NM_000341	-		44513183	1	no_errors	ENST00000260649	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44513183	G	A	44513183	3	1	196	1	0	0	0	0	1	0	0	0	14634	1349	47	2	792	2	SLC3A1	2	44513183	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	337615	44513183	198686190	305	13577											
SRBD1	55133	genome.wustl.edu	37	chr2	45780861	45780861	+	Missense_Mutation	SNP	G	G	C													ctggccttgcaaagctacgtGgtctccacctgcaaaacaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:45780861G>C	ENST00000263736.4	-	11	1480	c.1418C>G	c.(1417-1419)cCa>cGa	p.P473R	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	473					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGCTACGTGGTCTCCACCT	0.388																																																	0								ENSG00000068784						54	58	57					2																	45780861		2203	4300	6503	SRBD1	SO:0001583	missense	0			-	HGNC	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1418C>G	2.37:g.45780861G>C	ENSP00000263736:p.Pro473Arg	Somatic	0	56	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	73	17.98	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP							pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.P473R	ENST00000263736.4	37	c.1418	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705109	0.68615	.	.	ENSG00000068784	ENST00000263736	T	0.41065	1.01	5.71	5.71	0.89125	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	N	0.25890	0.77	0.80722	D	1	D	0.53619	0.961	P	0.52758	0.708	T	0.14200	-1.0481	10	0.27082	T	0.32	.	19.8513	0.96741	0.0:0.0:1.0:0.0	.	473	Q8N5C6	SRBD1_HUMAN	R	473	ENSP00000263736:P473R	ENSP00000263736:P473R	P	-	2	0	SRBD1	45634365	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.203000	0.77864	2.694000	0.91930	0.585000	0.79938	CCA	-	NULL		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	protein_coding	OTTHUMT00000250747.3	G	NM_018079	-		45780861	-1	no_errors	ENST00000263736	ensembl	human	known	74_37	missense	SNP	1.000	C	C	45780861	G	C	45780861	3	2	196	1	0	0	0	0	1	0	0	0	15140	1348	47	4	1613	4	SRBD1	2	45780861	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1267678	45780861	197418512	306	13578	227	2									
SRBD1	55133	genome.wustl.edu	37	chr2	45780862	45780862	+	Missense_Mutation	SNP	G	G	A													tggccttgcaaagctacgtgGtctccacctgcaaaacagaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:45780862G>A	ENST00000263736.4	-	11	1479	c.1417C>T	c.(1417-1419)Cca>Tca	p.P473S	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	473					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAGCTACGTGGTCTCCACCTG	0.388																																																	0								ENSG00000068784						54	58	56					2																	45780862		2203	4300	6503	SRBD1	SO:0001583	missense	0			-	HGNC	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1417C>T	2.37:g.45780862G>A	ENSP00000263736:p.Pro473Ser	Somatic	0	56	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	72	18.18	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP							pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.P473S	ENST00000263736.4	37	c.1417	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728112	0.48833	.	.	ENSG00000068784	ENST00000263736	T	0.40756	1.02	5.71	5.71	0.89125	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.33137	0.985	0.80722	D	1	B	0.32918	0.39	B	0.31290	0.127	T	0.07578	-1.0765	10	0.18276	T	0.48	.	19.8513	0.96741	0.0:0.0:1.0:0.0	.	473	Q8N5C6	SRBD1_HUMAN	S	473	ENSP00000263736:P473S	ENSP00000263736:P473S	P	-	1	0	SRBD1	45634366	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.003000	0.93577	2.694000	0.91930	0.585000	0.79938	CCA	-	NULL		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	protein_coding	OTTHUMT00000250747.3	G	NM_018079	-		45780862	-1	no_errors	ENST00000263736	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45780862	G	A	45780862	3	1	196	1	0	0	0	0	1	0	0	0	15140	1261	44	2	1614	2	SRBD1	2	45780862	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	45780862	197418511	307	13579	227	2									
PRKCE	5581	genome.wustl.edu	37	chr2	46231735	46231735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaagctcaccatctgagGaagatcgatccaagtcagca	10	11	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:46231735G>A	ENST00000306156.3	+	8	1348	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	PRKCE_ENST00000394874.1_Missense_Mutation_p.E64K	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	341					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	ACCATCTGAGGAAGATCGATC	0.562																																																	0								ENSG00000171132						51	54	53					2																	46231735		1933	3882	5815	PRKCE	SO:0001583	missense	0			-	HGNC		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1021G>A	2.37:g.46231735G>A	ENSP00000306124:p.Glu341Lys	Somatic	0	43	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.E341K	ENST00000306156.3	37	c.1021	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	G	1.862	-0.462359	0.04508	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.67523	-0.27;0.49	5.06	4.19	0.49359	.	0.286327	0.32836	N	0.005585	T	0.41419	0.1158	N	0.08118	0	0.41232	D	0.986585	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.02654	T	1	.	13.5686	0.61832	0.0747:0.0:0.9253:0.0	.	341	Q02156	KPCE_HUMAN	K	341;64	ENSP00000306124:E341K;ENSP00000378341:E64K	ENSP00000306124:E341K	E	+	1	0	PRKCE	46085239	1.000000	0.71417	0.986000	0.45419	0.005000	0.04900	6.973000	0.76116	1.354000	0.45846	-0.136000	0.14681	GAA	-	pirsf_Prot_kin_PKC_delta		0.562	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	protein_coding	OTTHUMT00000250751.2	G		-		46231735	1	no_errors	ENST00000306156	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46231735	G	A	46231735	3	1	196	1	0	0	0	0	1	0	0	0	12516	1175	41	2	1051	2	PRKCE	2	46231735	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	450873	46231735	196967638	308	13580											
STON1	11037	genome.wustl.edu	37	chr2	48808301	48808301	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccccagtttcagtattttCgagaggactgtgctttttca	8	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:48808301C>T	ENST00000406226.1	+	3	724	c.529C>T	c.(529-531)Cga>Tga	p.R177*	STON1_ENST00000309835.3_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.R177*|STON1_ENST00000404752.1_Nonsense_Mutation_p.R177*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	177					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTATTTTCGAGAGGACTG	0.438																																																	0								ENSG00000068781						93	93	93					2																	48808301		2203	4300	6503	STON1-GTF2A1L	SO:0001587	stop_gained	0			-	HGNC	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.529C>T	2.37:g.48808301C>T	ENSP00000384615:p.Arg177*	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP							pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.R177*	ENST00000406226.1	37	c.529	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.947777	0.97134	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.24	5.24	0.73138	.	0.919580	0.09326	N	0.817605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000310969:R177X	R	+	1	2	STON1-GTF2A1L;STON1	48661805	0.158000	0.22850	0.782000	0.31804	0.594000	0.36715	2.054000	0.41335	2.884000	0.98904	0.655000	0.94253	CGA	-	NULL		0.438	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	protein_coding	OTTHUMT00000323848.2	C	NM_006873	-		48808301	1	no_errors	ENST00000309827	ensembl	human	known	74_37	nonsense	SNP	0.969	T	T	48808301	C	T	48808301	4	4	196	1	0	0	0	0	0	1	0	0	15323	876	31	1	531	1	STON1	2	48808301	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2576566	48808301	194391072	309	13581											
SPTBN1	6711	genome.wustl.edu	37	chr2	54856752	54856752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggcaggctgtcgggcatCgaggagcggtataaggaggt	20	6	0	0	rs369223422		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:54856752C>T	ENST00000356805.4	+	14	2762	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	SPTBN1_ENST00000333896.5_Silent_p.I814I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	827					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCGGGCATCGAGGAGCGGT	0.632																																																	0								ENSG00000115306	C	,	0,4406		0,0,2203	42	43	43		2481,2442	-1	1	2		43	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	827/2365,814/2156	54856752	2,13004	2203	4300	6503	SPTBN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2481C>T	2.37:g.54856752C>T		Somatic	0	20	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	39.02	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.I827	ENST00000356805.4	37	c.2481	CCDS33198.1	2																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.632	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	protein_coding	OTTHUMT00000258115.3	C		-		54856752	1	no_errors	ENST00000356805	ensembl	human	known	74_37	silent	SNP	0.681	T	T	54856752	C	T	54856752	2	4	196	1	0	0	0	0	0	0	0	1	15126	874	31	1		1	SPTBN1	2	54856752	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6048451	54856752	188342621	310	13582											
BCL11A	53335	genome.wustl.edu	37	chr2	60687935	60687935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatccctccgtccagctcCccgggcggtgtggagaagcg	15	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:60687935C>T	ENST00000335712.6	-	4	2339	c.2112G>A	c.(2110-2112)ggG>ggA	p.G704G	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.G670G|BCL11A_ENST00000356842.4_Silent_p.G704G|BCL11A_ENST00000538214.1_Silent_p.G670G|BCL11A_ENST00000537768.1_Silent_p.G373G|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	704					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGTCCAGCTCCCCGGGCGGTG	0.647			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0								ENSG00000119866						34	41	39					2																	60687935		2203	4299	6502	BCL11A	SO:0001819	synonymous_variant	0			-	HGNC	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2112G>A	2.37:g.60687935C>T		Somatic	0	39	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G704	ENST00000335712.6	37	c.2112	CCDS1862.1	2																																																																																			-	NULL		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	protein_coding	OTTHUMT00000251579.2	C	NM_022893	-		60687935	-1	no_errors	ENST00000335712	ensembl	human	known	74_37	silent	SNP	1.000	T	T	60687935	C	T	60687935	2	4	196	1	0	0	0	0	0	0	0	1	1363	610	22	2		2	BCL11A	2	60687935	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5831183	60687935	182511438	311	13583											
B3GNT2	10678	genome.wustl.edu	37	chr2	62449515	62449515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctggaagatatctaccCctcccgaggcatactggaac	9	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:62449515C>T	ENST00000301998.4	+	2	412	c.160C>T	c.(160-162)Cct>Tct	p.P54S	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P54S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	54					axon guidance (GO:0007411)|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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATATCTACCCCTCCCGAGGC	0.483																																																	0								ENSG00000170340						122	143	136					2																	62449515		2203	4300	6503	B3GNT2	SO:0001583	missense	0			-	HGNC	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.160C>T	2.37:g.62449515C>T	ENSP00000305595:p.Pro54Ser	Somatic	0	45	0		0.52429534266604	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP							pfam_Glyco_trans_31	p.P54S	ENST00000301998.4	37	c.160	CCDS1870.1	2	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082570	0.20309	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.25749	1.78;1.78	6.02	5.14	0.70334	.	0.567259	0.17280	N	0.180048	T	0.21186	0.0510	L	0.42245	1.32	0.39676	D	0.970834	B	0.18013	0.025	B	0.19148	0.024	T	0.05022	-1.0911	10	0.09590	T	0.72	.	12.4116	0.55469	0.1327:0.7397:0.1276:0.0	.	54	Q9NY97	B3GN2_HUMAN	S	54	ENSP00000305595:P54S;ENSP00000384692:P54S	ENSP00000305595:P54S	P	+	1	0	B3GNT2	62303019	0.475000	0.25894	0.613000	0.29037	0.468000	0.32798	2.559000	0.45888	1.535000	0.49220	0.655000	0.94253	CCT	-	NULL		0.483	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT2	protein_coding	OTTHUMT00000251606.2	C	NM_006577	-		62449515	1	no_errors	ENST00000301998	ensembl	human	known	74_37	missense	SNP	0.993	T	T	62449515	C	T	62449515	3	4	196	1	0	0	0	0	1	0	0	0	1257	623	22	2	162	2	B3GNT2	2	62449515	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1761580	62449515	180749858	312	13584											
CD207	50489	genome.wustl.edu	37	chr2	71062847	71062847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgctcggggccagagGgagatgttctgtttgtccac	15	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:71062847G>A	ENST00000410009.3	-	1	105	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	20					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GGGGCCAGAGGGAGATGTTCT	0.547																																																	0								ENSG00000116031						88	98	94					2																	71062847		2119	4252	6371	CD207	SO:0001819	synonymous_variant	0			-	HGNC	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.60C>T	2.37:g.71062847G>A		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92		Silent	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S20	ENST00000410009.3	37	c.60		2																																																																																			-	NULL		0.547	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	protein_coding	OTTHUMT00000329959.4	G	NM_015717	-		71062847	-1	no_errors	ENST00000410009	ensembl	human	known	74_37	silent	SNP	1.000	A	A	71062847	G	A	71062847	2	1	196	1	0	0	0	0	0	0	0	1	2985	1219	43	2		2	CD207	2	71062847	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8613332	71062847	172136526	313	13585											
EXOC6B	23233	genome.wustl.edu	37	chr2	72692418	72692418	+	Silent	SNP	C	C	T													agctgtaggaactggtcaatCttctggtttaagttggtata							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:72692418C>T	ENST00000272427.6	-	18	1981	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	EXOC6B_ENST00000410104.1_Silent_p.K617K	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	617					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						ACTGGTCAATCTTCTGGTTTA	0.398																																																	0								ENSG00000144036						120	116	118					2																	72692418		1925	4131	6056	EXOC6B	SO:0001819	synonymous_variant	0			-	HGNC	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1851G>A	2.37:g.72692418C>T		Somatic	0	100	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	73	26.26	B8ZZY3	Silent	SNP							pfam_Sec15,pirsf_Sec15	p.K617	ENST00000272427.6	37	c.1851	CCDS46333.1	2																																																																																			-	pfam_Sec15,pirsf_Sec15		0.398	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	protein_coding	OTTHUMT00000327558.1	C	XM_039570	-		72692418	-1	no_errors	ENST00000272427	ensembl	human	known	74_37	silent	SNP	1.000	T	T	72692418	C	T	72692418	2	4	196	1	0	0	0	0	0	0	0	1	5311	912	32	2		2	EXOC6B	2	72692418	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1629571	72692418	170506955	314	13586	228	2									
EXOC6B	23233	genome.wustl.edu	37	chr2	72692419	72692419	+	Missense_Mutation	SNP	T	T	C													gctgtaggaactggtcaatcTtctggtttaagttggtataa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:72692419T>C	ENST00000272427.6	-	18	1980	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	EXOC6B_ENST00000410104.1_Missense_Mutation_p.K617R	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	617					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTGGTCAATCTTCTGGTTTAA	0.403																																																	0								ENSG00000144036						122	117	119					2																	72692419		1920	4130	6050	EXOC6B	SO:0001583	missense	0			-	HGNC	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1850A>G	2.37:g.72692419T>C	ENSP00000272427:p.Lys617Arg	Somatic	0	101	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	73	27.00	B8ZZY3	Missense_Mutation	SNP							pfam_Sec15,pirsf_Sec15	p.K617R	ENST00000272427.6	37	c.1850	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842567	0.91197	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.58506	0.33;0.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	M	0.78916	2.43	0.80722	D	1	B;D	0.64830	0.173;0.994	B;D	0.63877	0.122;0.919	T	0.77986	-0.2381	10	0.66056	D	0.02	.	14.4082	0.67096	0.0:0.0:0.0:1.0	.	617;617	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	R	617	ENSP00000272427:K617R;ENSP00000386698:K617R	ENSP00000272427:K617R	K	-	2	0	EXOC6B	72545927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.139000	0.66308	0.482000	0.46254	AAG	-	pfam_Sec15,pirsf_Sec15		0.403	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	protein_coding	OTTHUMT00000327558.1	T	XM_039570	-		72692419	-1	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	SNP	1.000	C	C	72692419	T	C	72692419	3	2	196	1	0	0	0	0	1	0	0	0	5311	1609	56	5	605	5	EXOC6B	2	72692419	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	72692419	170506954	315	13587	228	2									
ALMS1	7840	genome.wustl.edu	37	chr2	73681154	73681154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcatgctaaagaaatactCagaaatgcagaggaagagga	10	5	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:73681154C>T	ENST00000264448.6	+	8	7608	c.7497C>T	c.(7495-7497)ctC>ctT	p.L2499L	ALMS1-IT1_ENST00000441587.2_RNA|ALMS1_ENST00000377715.1_Silent_p.L2499L|ALMS1_ENST00000409009.1_Silent_p.L2457L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2499					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						AAGAAATACTCAGAAATGCAG	0.398																																																	0								ENSG00000116127						49	47	48					2																	73681154		1903	4112	6015	ALMS1	SO:0001819	synonymous_variant	0			-	HGNC	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.7497C>T	2.37:g.73681154C>T		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	28	46.15	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP							NULL	p.L2499	ENST00000264448.6	37	c.7497	CCDS42697.1	2																																																																																			-	NULL		0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	C	NM_015120	-		73681154	1	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	SNP	0.997	T	T	73681154	C	T	73681154	2	4	196	1	0	0	0	0	0	0	0	1	535	813	29	2		2	ALMS1	2	73681154	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	988735	73681154	169518219	316	13588											
TET3	200424	genome.wustl.edu	37	chr2	74315101	74315101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggagacaccctctaccagGagctcaccgacaccctccgg	9	18	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74315101G>A	ENST00000409262.3	+	4	2419	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	807					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCTACCAGGAGCTCACCGA	0.647																																																	0								ENSG00000187605						22	28	26					2																	74315101		2052	4194	6246	TET3	SO:0001583	missense	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2419G>A	2.37:g.74315101G>A	ENSP00000386869:p.Glu807Lys	Somatic	0	97	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	76	37.70	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP							NULL	p.E807K	ENST00000409262.3	37	c.2419	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.397083	0.96009	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.38722	1.12	4.9	4.9	0.64082	TET cysteine-rich domain (1);	0.111275	0.64402	D	0.000013	T	0.60779	0.2295	L	0.59436	1.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.68765	0.96	T	0.62277	-0.6888	10	0.62326	D	0.03	.	17.3702	0.87374	0.0:0.0:1.0:0.0	.	807	O43151	TET3_HUMAN	K	807	ENSP00000386869:E807K	ENSP00000233310:E807K	E	+	1	0	TET3	74168609	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.543000	0.98089	2.698000	0.92095	0.650000	0.86243	GAG	-	NULL		0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	G		-		74315101	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74315101	G	A	74315101	3	1	196	1	0	0	0	0	1	0	0	0	15778	1175	41	2	2433	2	TET3	2	74315101	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	633947	74315101	168884272	317	13589											
TET3	200424	genome.wustl.edu	37	chr2	74326476	74326476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagctgcatgttctccCcctgtacaagatggccaaca	9	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74326476C>T	ENST00000409262.3	+	8	2936	c.2936C>T	c.(2935-2937)cCc>cTc	p.P979L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	979					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGTTCTCCCCCTGTACAAG	0.602																																																	0								ENSG00000187605						56	65	62					2																	74326476		2109	4228	6337	TET3	SO:0001583	missense	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2936C>T	2.37:g.74326476C>T	ENSP00000386869:p.Pro979Leu	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.05	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP							NULL	p.P979L	ENST00000409262.3	37	c.2936	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168147	0.78339	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.15603	2.41	5.06	3.26	0.37387	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	10.5337	0.44992	0.0:0.8395:0.0:0.1605	.	979	O43151	TET3_HUMAN	L	979	ENSP00000386869:P979L	ENSP00000233310:P979L	P	+	2	0	TET3	74179984	1.000000	0.71417	0.774000	0.31636	0.985000	0.73830	7.651000	0.83577	0.717000	0.32145	0.655000	0.94253	CCC	-	NULL		0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	C		-		74326476	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	SNP	0.999	T	T	74326476	C	T	74326476	3	4	196	1	0	0	0	0	1	0	0	0	15778	623	22	2	2966	2	TET3	2	74326476	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	11375	74326476	168872897	318	13590											
DCTN1	1639	genome.wustl.edu	37	chr2	74596233	74596233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttcctgaccttggcatGggccttagtctcagcaaact	8	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74596233G>A	ENST00000361874.3	-	15	2010	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	DCTN1_ENST00000407639.2_Missense_Mutation_p.H431Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H528Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.H558Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H548Y|DCTN1_ENST00000409567.3_Missense_Mutation_p.H545Y|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.H431Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	565					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)			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						ACCTTGGCATGGGCCTTAGTC	0.547																																																	0								ENSG00000204843						102	96	98					2																	74596233		2203	4300	6503	DCTN1	SO:0001583	missense	0			-	HGNC		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.1693C>T	2.37:g.74596233G>A	ENSP00000354791:p.His565Tyr	Somatic	0	52	0		0.52429534266604	60	18.92	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	49	34.67	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP							pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.H565Y	ENST00000361874.3	37	c.1693	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847115	0.17034	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.65	5.65	0.86999	.	0.000000	0.44688	D	0.000426	T	0.70202	0.3197	N	0.16567	0.415	0.50039	D	0.999843	B;B;B;B;B;B	0.11235	0.002;0.0;0.001;0.001;0.004;0.001	B;B;B;B;B;B	0.13407	0.007;0.004;0.003;0.006;0.009;0.001	T	0.64922	-0.6293	10	0.02654	T	1	-7.6979	18.6545	0.91445	0.0:0.0:1.0:0.0	.	545;528;565;558;431;431	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Y	565;558;548;431;431;528;548;545	ENSP00000354791:H565Y;ENSP00000377571:H558Y;ENSP00000384844:H431Y;ENSP00000387270:H431Y;ENSP00000386406:H528Y;ENSP00000387327:H548Y;ENSP00000386843:H545Y	ENSP00000354791:H565Y	H	-	1	0	DCTN1	74449741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.748000	0.68697	2.941000	0.99782	0.655000	0.94253	CAT	-	pfam_Dynactin,superfamily_P-loop_NTPase		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	protein_coding	OTTHUMT00000252227.3	G	NM_004082	-		74596233	-1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74596233	G	A	74596233	3	1	196	1	0	0	0	0	1	0	0	0	4308	1348	47	2	2215	2	DCTN1	2	74596233	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	269757	74596233	168603140	319	13591											
C2orf65	130951	genome.wustl.edu	37	chr2	74808946	74808946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtctatagtctgaagGtcaatgtcagttcccagaat	8	8	5	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74808946G>A	ENST00000290536.5	-	5	740	c.624C>T	c.(622-624)gaC>gaT	p.D208D	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.D208D|M1AP_ENST00000536235.1_Silent_p.D208D	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	208					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TAGTCTGAAGGTCAATGTCAG	0.348																																																	0								ENSG00000159374						149	138	141					2																	74808946		2203	4300	6503	M1AP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.624C>T	2.37:g.74808946G>A		Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	63	36.36	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP							NULL	p.T152I	ENST00000290536.5	37	c.455	CCDS33229.1	2																																																																																			-	NULL		0.348	M1AP-001	KNOWN	basic|CCDS	protein_coding	M1AP	protein_coding	OTTHUMT00000328569.1	G	NM_138804	-		74808946	-1	no_errors	ENST00000422394	ensembl	human	known	74_37	missense	SNP	0.997	A	A	74808946	G	A	74808946	2	1	196	1	0	0	0	0	0	0	0	1	2186	1252	44	2		2	C2orf65	2	74808946	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	212713	74808946	168390427	320	13592											
MRPL19	9801	genome.wustl.edu	37	chr2	75879778	75879778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccttaggaatgttatcgaagGacaaggtaagttttatttca	9	5	1	0	rs368836903		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:75879778G>C	ENST00000393909.2	+	4	495	c.470G>C	c.(469-471)gGa>gCa	p.G157A	MRPL19_ENST00000358788.6_Missense_Mutation_p.G157A|MRPL19_ENST00000409374.1_Missense_Mutation_p.G157A	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	157					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						GTTATCGAAGGACAAGGTAAG	0.373																																																	0								ENSG00000115364	G	ALA/GLY	0,3680		0,0,1840	116	104	108		470	5.4	1	2		108	2,8176		0,2,4087	no	missense	MRPL19	NM_014763.3	60	0,2,5927	CC,CG,GG		0.0245,0.0,0.0169	probably-damaging	157/293	75879778	2,11856	1840	4089	5929	MRPL19	SO:0001583	missense	0			-	HGNC	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.470G>C	2.37:g.75879778G>C	ENSP00000377486:p.Gly157Ala	Somatic	0	38	0		0.52429534266604	85	33.07	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q53TX9|Q96Q52	Missense_Mutation	SNP							pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.G157A	ENST00000393909.2	37	c.470	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930311	0.52866	0.0	2.45E-4	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.254128	0.45126	D	0.000382	D	0.83658	0.5302	M	0.92880	3.355	0.80722	D	1	D	0.58268	0.982	P	0.57679	0.825	D	0.87494	0.2429	9	0.72032	D	0.01	-14.2675	17.0358	0.86474	0.0:0.0:1.0:0.0	.	157	P49406	RM19_HUMAN	A	157	.	ENSP00000377486:G157A	G	+	2	0	MRPL19	75733286	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	4.122000	0.57910	2.708000	0.92522	0.650000	0.86243	GGA	-	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19		0.373	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	protein_coding	OTTHUMT00000252256.1	G	NM_014763	-		75879778	1	no_errors	ENST00000393909	ensembl	human	known	74_37	missense	SNP	1.000	C	C	75879778	G	C	75879778	3	2	196	1	0	0	0	0	1	0	0	0	9786	1174	41	4	484	4	MRPL19	2	75879778	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1070832	75879778	167319595	321	13593											
CTNNA2	1496	genome.wustl.edu	37	chr2	80783008	80783008	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagctacaaaattgctTtctgaaacaggtaagcatgg	10	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:80783008T>A	ENST00000402739.4	+	11	1736	c.1731T>A	c.(1729-1731)ctT>ctA	p.L577L	CTNNA2_ENST00000540488.1_Silent_p.L577L|CTNNA2_ENST00000466387.1_Silent_p.L577L|CTNNA2_ENST00000343114.3_Silent_p.L256L|CTNNA2_ENST00000496558.1_Silent_p.L577L|CTNNA2_ENST00000361291.4_Silent_p.L611L|CTNNA2_ENST00000541047.1_Silent_p.L577L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	577					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)			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						CAAAATTGCTTTCTGAAACAG	0.423																																																	0								ENSG00000066032						133	125	127					2																	80783008		1879	4119	5998	CTNNA2	SO:0001819	synonymous_variant	0			-	HGNC		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.1731T>A	2.37:g.80783008T>A		Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L611	ENST00000402739.4	37	c.1833		2																																																																																			-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.423	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	protein_coding	OTTHUMT00000328511.4	T	NM_004389	-		80783008	1	no_errors	ENST00000361291	ensembl	human	known	74_37	silent	SNP	0.907	A	A	80783008	T	A	80783008	2	1	196	1	0	0	0	0	0	0	0	1	4015	1828	64	5		5	CTNNA2	2	80783008	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	4903230	80783008	162416365	322	13594											
DNAH6	1768	genome.wustl.edu	37	chr2	84831570	84831570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctgaaattccattaacCttggagaggctctcccagtt	9	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:84831570C>T	ENST00000237449.6	+	18	2984	c.2976C>T	c.(2974-2976)acC>acT	p.T992T	DNAH6_ENST00000398278.2_Silent_p.T992T|DNAH6_ENST00000389394.3_Silent_p.T992T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	992	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTCCATTAACCTTGGAGAGGC	0.438																																																	0								ENSG00000115423						76	68	71					2																	84831570		692	1591	2283	DNAH6	SO:0001819	synonymous_variant	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2976C>T	2.37:g.84831570C>T		Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	75	21.88	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T992	ENST00000237449.6	37	c.2976	CCDS46348.1	2																																																																																			-	pfam_Dynein_heavy_dom-2		0.438	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	C	NM_001370	-		84831570	1	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	SNP	1.000	T	T	84831570	C	T	84831570	2	4	196	1	0	0	0	0	0	0	0	1	4607	668	24	2		2	DNAH6	2	84831570	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4048562	84831570	158367803	323	13595											
KDM3A	55818	genome.wustl.edu	37	chr2	86693706	86693706	+	Missense_Mutation	SNP	C	C	T													aaaacagattggagtctgttCcacaagcattgactggcctt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:86693706C>T	ENST00000409556.1	+	11	1584	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	KDM3A_ENST00000409064.1_Missense_Mutation_p.P407S|KDM3A_ENST00000542128.1_Missense_Mutation_p.P355S|KDM3A_ENST00000312912.5_Missense_Mutation_p.P407S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	407					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAGTCTGTTCCACAAGCATT	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)												0								ENSG00000115548						159	146	151					2																	86693706		2203	4300	6503	KDM3A	SO:0001583	missense	0			-	HGNC	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1219C>T	2.37:g.86693706C>T	ENSP00000386660:p.Pro407Ser	Somatic	0	57	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	67	34.31	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P407S	ENST00000409556.1	37	c.1219	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	5.542	0.284851	0.10513	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.81	1.38	0.22167	.	0.582083	0.16633	N	0.205965	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.16364	-1.0405	10	0.10636	T	0.68	.	3.596	0.08006	0.2227:0.5144:0.1104:0.1524	.	355;407	F5H070;Q9Y4C1	.;KDM3A_HUMAN	S	407;407;407;407;355	ENSP00000386660:P407S;ENSP00000323659:P407S;ENSP00000386516:P407S;ENSP00000438324:P355S	ENSP00000323659:P407S	P	+	1	0	KDM3A	86547217	0.000000	0.05858	0.027000	0.17364	0.943000	0.58893	-0.516000	0.06282	0.287000	0.22375	-0.251000	0.11542	CCA	-	NULL		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	protein_coding	OTTHUMT00000252522.2	C	NM_018433	-		86693706	1	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	SNP	0.000	T	T	86693706	C	T	86693706	3	4	196	1	0	0	0	0	1	0	0	0	8128	855	30	2	1253	2	KDM3A	2	86693706	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1862136	86693706	156505667	324	13596	229	2									
KDM3A	55818	genome.wustl.edu	37	chr2	86693707	86693707	+	Missense_Mutation	SNP	C	C	T													aaacagattggagtctgttcCacaagcattgactggccttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:86693707C>T	ENST00000409556.1	+	11	1585	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L	KDM3A_ENST00000409064.1_Missense_Mutation_p.P407L|KDM3A_ENST00000542128.1_Missense_Mutation_p.P355L|KDM3A_ENST00000312912.5_Missense_Mutation_p.P407L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	407					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCTGTTCCACAAGCATTG	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)												0								ENSG00000115548						159	146	151					2																	86693707		2203	4300	6503	KDM3A	SO:0001583	missense	0			-	HGNC	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1220C>T	2.37:g.86693707C>T	ENSP00000386660:p.Pro407Leu	Somatic	0	57	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	69	33.01	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P407L	ENST00000409556.1	37	c.1220	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613183	0.28712	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.81	1.3	0.21679	.	0.582083	0.16633	N	0.205965	T	0.22322	0.0538	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	0.10474	-1.0628	10	0.21014	T	0.42	.	3.0894	0.06289	0.1912:0.4752:0.0:0.3336	.	355;407	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	407;407;407;407;355	ENSP00000386660:P407L;ENSP00000323659:P407L;ENSP00000386516:P407L;ENSP00000438324:P355L	ENSP00000323659:P407L	P	+	2	0	KDM3A	86547218	0.005000	0.15991	0.033000	0.17914	0.953000	0.61014	0.347000	0.20014	0.799000	0.34018	0.563000	0.77884	CCA	-	NULL		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	protein_coding	OTTHUMT00000252522.2	C	NM_018433	-		86693707	1	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	SNP	0.000	T	T	86693707	C	T	86693707	3	4	196	1	0	0	0	0	1	0	0	0	8128	594	21	2	1254	2	KDM3A	2	86693707	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	86693707	156505666	325	13597	229	2									
RMND5A	64795	genome.wustl.edu	37	chr2	86998741	86998741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttgcctgccccattcttCgtcagcaaacaacagataac	5	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:86998741C>T	ENST00000283632.4	+	8	1513	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	340										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CCCCATTCTTCGTCAGCAAAC	0.348																																																	0								ENSG00000153561						107	112	110					2																	86998741		2203	4300	6503	RMND5A	SO:0001583	missense	0			-	HGNC	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog A"					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.1018C>T	2.37:g.86998741C>T	ENSP00000283632:p.Arg340Cys	Somatic	0	107	0		0.52429534266604	19	9.52	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	101	17.07	D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP							smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R340C	ENST00000283632.4	37	c.1018	CCDS1991.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190607	0.78789	.	.	ENSG00000153561	ENST00000283632	T	0.17370	2.28	5.85	5.85	0.93711	Zinc finger, RING/FYVE/PHD-type (1);	0.066760	0.64402	D	0.000006	T	0.54271	0.1848	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62859	-0.6765	10	0.87932	D	0	-14.1057	20.1562	0.98114	0.0:1.0:0.0:0.0	.	340	Q9H871	RMD5A_HUMAN	C	340	ENSP00000283632:R340C	ENSP00000283632:R340C	R	+	1	0	RMND5A	86852252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.748000	0.55142	2.772000	0.95346	0.655000	0.94253	CGT	-	NULL		0.348	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND5A	protein_coding	OTTHUMT00000252591.2	C	NM_022780	-		86998741	1	no_errors	ENST00000283632	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86998741	C	T	86998741	3	4	196	1	0	0	0	0	1	0	0	0	13405	884	31	1	1048	1	RMND5A	2	86998741	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	305034	86998741	156200632	326	13598											
PROM2	150696	genome.wustl.edu	37	chr2	95940496	95940496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggctggcccctcgagttCgtgcgccaggactcctggac	15	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:95940496C>T	ENST00000317620.9	+	1	296	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PROM2_ENST00000317668.4_Missense_Mutation_p.R55C|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.R55C|PROM2_ENST00000542147.1_Missense_Mutation_p.R55C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	55					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTCGAGTTCGTGCGCCAGG	0.662																																																	0								ENSG00000155066						74	84	81					2																	95940496		2203	4300	6503	PROM2	SO:0001583	missense	0			-	HGNC	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.163C>T	2.37:g.95940496C>T	ENSP00000318270:p.Arg55Cys	Somatic	0	10	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP							pfam_Prominin	p.R55C	ENST00000317620.9	37	c.163	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496276	0.44352	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.01	5.01	0.66863	.	0.127754	0.36268	N	0.002691	T	0.63920	0.2552	M	0.72118	2.19	0.09310	N	0.999998	D	0.89917	1.0	D	0.63957	0.92	T	0.57871	-0.7736	10	0.39692	T	0.17	-15.9539	13.8035	0.63216	0.0:1.0:0.0:0.0	.	55	Q8N271	PROM2_HUMAN	C	55	ENSP00000385716:R55C;ENSP00000318520:R55C;ENSP00000318270:R55C;ENSP00000442542:R55C	ENSP00000318270:R55C	R	+	1	0	PROM2	95304223	0.135000	0.22499	0.023000	0.16930	0.088000	0.18126	2.800000	0.47900	2.339000	0.79563	0.491000	0.48974	CGT	-	pfam_Prominin		0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	protein_coding	OTTHUMT00000252771.1	C	NM_144707	-		95940496	1	no_errors	ENST00000317620	ensembl	human	known	74_37	missense	SNP	0.037	T	T	95940496	C	T	95940496	3	4	196	1	0	0	0	0	1	0	0	0	12561	884	31	1	165	1	PROM2	2	95940496	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8941755	95940496	147258877	327	13599											
TRIM43	129868	genome.wustl.edu	37	chr2	96259841	96259841	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtttgaactacctggtaGaccctgtcaccatctgctgt	8	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:96259841G>A	ENST00000272395.2	+	2	206	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	24						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTACCTGGTAGACCCTGTCAC	0.512																																																	0								ENSG00000144015						99	98	99					2																	96259841		2201	4298	6499	TRIM43	SO:0001583	missense	0			-	HGNC	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.70G>A	2.37:g.96259841G>A	ENSP00000272395:p.Asp24Asn	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	101	13.68	Q53TJ7	Missense_Mutation	SNP							pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D24N	ENST00000272395.2	37	c.70	CCDS2015.1	2	.	.	.	.	.	.	.	.	.	.	.	13.25	2.181171	0.38511	.	.	ENSG00000144015	ENST00000272395	T	0.21361	2.01	1.4	1.4	0.22301	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.36358	0.0964	L	0.49126	1.545	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06789	-1.0807	9	0.62326	D	0.03	-16.669	8.855	0.35223	0.0:0.0:1.0:0.0	.	24	Q96BQ3	TRI43_HUMAN	N	24	ENSP00000272395:D24N	ENSP00000272395:D24N	D	+	1	0	TRIM43	95623568	0.247000	0.23920	0.028000	0.17463	0.066000	0.16364	1.264000	0.33015	1.114000	0.41781	0.375000	0.23000	GAC	-	smart_Znf_RING,pfscan_Znf_RING		0.512	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	protein_coding	OTTHUMT00000252784.1	G	NM_138800	-		96259841	1	no_errors	ENST00000272395	ensembl	human	known	74_37	missense	SNP	0.063	A	A	96259841	G	A	96259841	3	1	196	1	0	0	0	0	1	0	0	0	16525	942	33	2	72	2	TRIM43	2	96259841	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	319345	96259841	146939532	328	13600											
SNRNP200	23020	genome.wustl.edu	37	chr2	96958812	96958812	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgatacccacatatgtctgTtccagaggcactggacggaa	11	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:96958812T>A	ENST00000323853.5	-	16	2135	c.2058A>T	c.(2056-2058)gaA>gaT	p.E686D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	686	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						CATATGTCTGTTCCAGAGGCA	0.403																																																	0								ENSG00000144028						75	69	71					2																	96958812		2203	4300	6503	SNRNP200	SO:0001583	missense	0			-	HGNC	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.2058A>T	2.37:g.96958812T>A	ENSP00000317123:p.Glu686Asp	Somatic	0	76	0		0.52429534266604	17	19.05	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	58	36.96	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP							pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E686D	ENST00000323853.5	37	c.2058	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244724	0.59103	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	D	0.91945	-2.94	6.06	-2.09	0.07232	Helicase, C-terminal (1);DEAD-like helicase (1);	0.046847	0.85682	D	0.000000	D	0.86703	0.5996	L	0.58510	1.815	0.80722	D	1	B	0.33612	0.419	B	0.24701	0.055	T	0.77736	-0.2476	10	0.40728	T	0.16	-14.6574	12.5085	0.55995	0.0:0.5241:0.0:0.4759	.	686	O75643	U520_HUMAN	D	686;361	ENSP00000317123:E686D	ENSP00000317123:E686D	E	-	3	2	SNRNP200	96322539	0.999000	0.42202	0.992000	0.48379	0.981000	0.71138	0.648000	0.24828	-0.331000	0.08501	0.533000	0.62120	GAA	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_C		0.403	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	protein_coding	OTTHUMT00000252846.2	T	NM_014014	-		96958812	-1	no_errors	ENST00000323853	ensembl	human	known	74_37	missense	SNP	0.996	A	A	96958812	T	A	96958812	3	1	196	1	0	0	0	0	1	0	0	0	14860	1722	60	5	4472	5	SNRNP200	2	96958812	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	698971	96958812	146240561	329	13601											
CNNM4	26504	genome.wustl.edu	37	chr2	97463353	97463353	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaaaatctccccgcagctCctcctggccgctcatcgctt	8	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:97463353C>T	ENST00000377075.2	+	3	1748	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Silent_p.L37L	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	550					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCCCGCAGCTCCTCCTGGCCG	0.572																																																	0								ENSG00000158158						55	49	51					2																	97463353		2203	4300	6503	CNNM4	SO:0001819	synonymous_variant	0			-	HGNC	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1650C>T	2.37:g.97463353C>T		Somatic	0	45	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	51	46.32	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP							pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L550	ENST00000377075.2	37	c.1650	CCDS2024.2	2																																																																																			-	NULL		0.572	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	protein_coding	OTTHUMT00000252954.1	C	NM_020184	-		97463353	1	no_errors	ENST00000377075	ensembl	human	known	74_37	silent	SNP	0.932	T	T	97463353	C	T	97463353	2	4	196	1	0	0	0	0	0	0	0	1	3617	842	30	2		2	CNNM4	2	97463353	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	504541	97463353	145736020	330	13602											
ANKRD23	200539	genome.wustl.edu	37	chr2	97506580	97506580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacttgtcaatcaggtactCctggttctcagcagctgcct	9	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:97506580C>T	ENST00000318357.4	-	4	411	c.370G>A	c.(370-372)Gag>Aag	p.E124K	ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Missense_Mutation_p.E124K	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	124					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						ATCAGGTACTCCTGGTTCTCA	0.577																																																	0								ENSG00000163126						132	116	121					2																	97506580		2203	4300	6503	ANKRD23	SO:0001583	missense	0			-	HGNC		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.370G>A	2.37:g.97506580C>T	ENSP00000321679:p.Glu124Lys	Somatic	0	27	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	Q711K7|Q8NAJ7	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E124K	ENST00000318357.4	37	c.370	CCDS2027.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190265	0.78789	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.63417	-0.04;-0.04	5.56	5.56	0.83823	Ankyrin repeat-containing domain (4);	0.000000	0.39985	N	0.001204	T	0.50548	0.1622	L	0.41632	1.29	0.80722	D	1	P	0.43231	0.801	B	0.40741	0.339	T	0.51364	-0.8715	10	0.05525	T	0.97	-29.5967	15.0096	0.71539	0.0:1.0:0.0:0.0	.	124	Q86SG2	ANR23_HUMAN	K	124	ENSP00000321679:E124K;ENSP00000398987:E124K	ENSP00000321679:E124K	E	-	1	0	ANKRD23	96870307	0.466000	0.25823	1.000000	0.80357	0.950000	0.60333	0.193000	0.17116	2.615000	0.88500	0.561000	0.74099	GAG	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.577	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD23	protein_coding	OTTHUMT00000252956.1	C	NM_144994	-		97506580	-1	no_errors	ENST00000318357	ensembl	human	known	74_37	missense	SNP	1.000	T	T	97506580	C	T	97506580	3	4	196	1	0	0	0	0	1	0	0	0	652	864	30	2	571	2	ANKRD23	2	97506580	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	43227	97506580	145692793	331	13603											
ZAP70	7535	genome.wustl.edu	37	chr2	98351000	98351000	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcacgcataacgtccccaGacaaaccgcggccgatgccc	9	18	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:98351000G>A	ENST00000264972.5	+	9	1122	c.907G>A	c.(907-909)Gac>Aac	p.D303N	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.D177N	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	303	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACGTCCCCAGACAAACCGCG	0.627																																																	0								ENSG00000115085						78	69	72					2																	98351000		2203	4300	6503	ZAP70	SO:0001583	missense	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.907G>A	2.37:g.98351000G>A	ENSP00000264972:p.Asp303Asn	Somatic	0	34	0		0.52429534266604	17	5.56	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	39	38.10	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D303N	ENST00000264972.5	37	c.907	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180508	0.38511	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.72282	-0.64;-0.64	5.01	5.01	0.66863	.	0.882685	0.09610	N	0.778961	T	0.62405	0.2425	L	0.29908	0.895	0.09310	N	1	B;B	0.17667	0.023;0.004	B;B	0.17433	0.018;0.005	T	0.43988	-0.9357	10	0.20519	T	0.43	.	16.6296	0.85030	0.0:0.0:1.0:0.0	.	177;303	P43403-3;P43403	.;ZAP70_HUMAN	N	303;177	ENSP00000264972:D303N;ENSP00000411141:D177N	ENSP00000264972:D303N	D	+	1	0	ZAP70	97717432	0.789000	0.28775	0.015000	0.15790	0.092000	0.18411	4.421000	0.59848	2.723000	0.93209	0.655000	0.94253	GAC	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	G		-		98351000	1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	SNP	0.055	A	A	98351000	G	A	98351000	3	1	196	1	0	0	0	0	1	0	0	0	17521	942	33	2	933	2	ZAP70	2	98351000	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	844420	98351000	144848373	332	13604											
VWA3B	200403	genome.wustl.edu	37	chr2	98804437	98804437	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctttgtcatctccttaGgagacgaacaagaagacagt	9	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:98804437G>A	ENST00000477737.1	+	10	1515		c.e10-1		VWA3B_ENST00000435344.1_Splice_Site|VWA3B_ENST00000451075.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											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						CATCTCCTTAGGAGACGAACA	0.483																																																	0								ENSG00000168658						50	49	49					2																	98804437		1902	4126	6028	VWA3B	SO:0001630	splice_region_variant	0			-	HGNC	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.1312-1G>A	2.37:g.98804437G>A		Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	55	32.93	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP							-	e9-1	ENST00000477737.1	37	c.1312-1	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268383	0.59540	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6645	0.85249	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98170869	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	6.617000	0.74210	2.278000	0.76064	0.460000	0.39030	.	-	-		0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	protein_coding	OTTHUMT00000353469.2	G	NM_144992	-	Intron	98804437	1	no_errors	ENST00000477737	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	98804437	G	A	98804437	5	1	196	1	0	0	0	0	0	0	1	0	17248	1014	35	2	1345	2	VWA3B	2	98804437	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	453437	98804437	144394936	333	13605											
CREG2	200407	genome.wustl.edu	37	chr2	102000094	102000094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtcatgtagaagaaaGgaatcccagtgctattgttg	12	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:102000094G>A	ENST00000324768.5	-	2	649	c.512C>T	c.(511-513)cCt>cTt	p.P171L	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	171						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTAGAAGAAAGGAATCCCAGT	0.517																																																	0								ENSG00000175874						101	99	99					2																	102000094		2203	4300	6503	CREG2	SO:0001583	missense	0			-	HGNC	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.512C>T	2.37:g.102000094G>A	ENSP00000315203:p.Pro171Leu	Somatic	0	75	0		0.52429534266604	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	45	37.84	Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP							superfamily_Split_barrel_FMN-bd,pirsf_CREG	p.P171L	ENST00000324768.5	37	c.512	CCDS2052.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016554	0.75161	.	.	ENSG00000175874	ENST00000324768	T	0.50813	0.73	5.93	5.93	0.95920	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.127883	0.53938	D	0.000051	T	0.55401	0.1918	M	0.62088	1.915	0.80722	D	1	P	0.46784	0.884	P	0.45794	0.493	T	0.53697	-0.8402	10	0.44086	T	0.13	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	171	Q8IUH2	CREG2_HUMAN	L	171	ENSP00000315203:P171L	ENSP00000315203:P171L	P	-	2	0	CREG2	101366526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.715000	0.74697	2.808000	0.96608	0.655000	0.94253	CCT	-	superfamily_Split_barrel_FMN-bd,pirsf_CREG		0.517	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREG2	protein_coding	OTTHUMT00000253188.2	G	NM_153836	-		102000094	-1	no_errors	ENST00000324768	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102000094	G	A	102000094	3	1	196	1	0	0	0	0	1	0	0	0	3867	1000	35	2	372	2	CREG2	2	102000094	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3195657	102000094	141199279	334	13606											
IL18RAP	8807	genome.wustl.edu	37	chr2	103040419	103040419	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccctgagcacctgcccttCatgggtagtaacgacctatc	9	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:103040419C>T	ENST00000264260.2	+	4	808	c.219C>T	c.(217-219)ttC>ttT	p.F73F	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	73					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACCTGCCCTTCATGGGTAGTA	0.433																																																	0								ENSG00000115607						87	80	83					2																	103040419		2203	4300	6503	IL18RAP	SO:0001819	synonymous_variant	0			-	HGNC	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.219C>T	2.37:g.103040419C>T		Somatic	0	50	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	64	12.33	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.F73	ENST00000264260.2	37	c.219	CCDS2061.1	2																																																																																			-	NULL		0.433	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	protein_coding	OTTHUMT00000253291.2	C	NM_003853	-		103040419	1	no_errors	ENST00000264260	ensembl	human	known	74_37	silent	SNP	0.006	T	T	103040419	C	T	103040419	2	4	196	1	0	0	0	0	0	0	0	1	7650	825	29	2		2	IL18RAP	2	103040419	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1040325	103040419	140158954	335	13607											
MFSD9	84804	genome.wustl.edu	37	chr2	103343434	103343434	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacatcgctccagcagccCtgaggaaagtaagaaaaagc	9	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:103343434C>T	ENST00000258436.5	-	4	341		c.e4-1			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TCCAGCAGCCCTGAGGAAAGT	0.498																																																	0								ENSG00000135953						71	68	69					2																	103343434		2203	4300	6503	MFSD9	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.298-1G>A	2.37:g.103343434C>T		Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Splice_Site	SNP							-	e4-1	ENST00000258436.5	37	c.298-1	CCDS2063.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564560	0.86439	.	.	ENSG00000135953	ENST00000258436	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6917	0.96005	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFSD9	102709866	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.341000	0.79300	2.663000	0.90544	0.655000	0.94253	.	-	-		0.498	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	protein_coding	OTTHUMT00000253295.2	C	NM_032718	-	Intron	103343434	-1	no_errors	ENST00000258436	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	103343434	C	T	103343434	5	4	196	1	0	0	0	0	0	0	1	0	9541	695	24	2	1139	2	MFSD9	2	103343434	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	303015	103343434	139855939	336	13608											
SULT1C2	6819	genome.wustl.edu	37	chr2	108921994	108921994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaatcccatgacaaatCgttctacagtttccaaatct	4	10	2	2	rs112864909		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:108921994C>T	ENST00000437390.2	+	7	940	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C	SULT1C2_ENST00000326853.5_Missense_Mutation_p.R252C|SULT1C2_ENST00000409880.1_Missense_Mutation_p.R204C|SULT1C2_ENST00000251481.6_Missense_Mutation_p.R241C			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	247					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)			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						CATGACAAATCGTTCTACAGT	0.403																																																	0								ENSG00000198203						98	97	97					2																	108921994		2203	4300	6503	SULT1C2	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.763C>T	2.37:g.108921994C>T	ENSP00000399651:p.Arg255Cys	Somatic	0	83	0		0.52429534266604	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	35	51.39	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R252C	ENST00000437390.2	37	c.754		2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.80	2.643919	0.47258	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.55	4.55	0.56014	Sulfotransferase domain (1);	0.189428	0.37761	N	0.001952	T	0.71970	0.3403	L	0.45228	1.405	0.47905	D	0.999544	B;P;B;B	0.35700	0.032;0.516;0.017;0.101	B;B;B;B	0.28638	0.032;0.092;0.022;0.032	T	0.74372	-0.3687	10	0.87932	D	0	.	6.5163	0.22250	0.0:0.8015:0.0:0.1985	.	255;156;241;252	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	C	241;252;204;255	ENSP00000251481:R241C;ENSP00000319622:R252C;ENSP00000387054:R204C;ENSP00000399651:R255C	ENSP00000251481:R241C	R	+	1	0	SULT1C2	108288426	0.989000	0.36119	0.998000	0.56505	0.967000	0.64934	1.618000	0.36954	2.505000	0.84491	0.655000	0.94253	CGT	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.403	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	protein_coding	OTTHUMT00000329969.2	C	NM_176825	rs112864909		108921994	1	no_errors	ENST00000326853	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108921994	C	T	108921994	3	4	196	1	0	0	0	0	1	0	0	0	15384	884	31	1	842	1	SULT1C2	2	108921994	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5578560	108921994	134277379	337	13609											
MERTK	10461	genome.wustl.edu	37	chr2	112767593	112767593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacccttcatgaaatacGgggacctgcatacttactta	6	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:112767593G>A	ENST00000295408.4	+	15	2286	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	MERTK_ENST00000421804.2_Missense_Mutation_p.G677R|MERTK_ENST00000409780.1_Missense_Mutation_p.G501R			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATGAAATACGGGGACCTGCA	0.423																																																	0								ENSG00000153208						200	197	198					2																	112767593		2203	4300	6503	MERTK	SO:0001583	missense	0			-	HGNC	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2029G>A	2.37:g.112767593G>A	ENSP00000295408:p.Gly677Arg	Somatic	0	64	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	41	48.10	Q9HBB4	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G677R	ENST00000295408.4	37	c.2029	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.244370	0.95272	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	D;D;D	0.89939	-2.59;-2.59;-2.59	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33895	U	0.004458	D	0.96460	0.8845	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96705	0.9521	10	0.87932	D	0	-30.8309	20.1899	0.98228	0.0:0.0:1.0:0.0	.	677	Q12866	MERTK_HUMAN	R	677;677;501	ENSP00000295408:G677R;ENSP00000389152:G677R;ENSP00000387277:G501R	ENSP00000295408:G677R	G	+	1	0	MERTK	112484064	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.011000	0.93618	2.873000	0.98535	0.563000	0.77884	GGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.423	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	G		-		112767593	1	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112767593	G	A	112767593	3	1	196	1	0	0	0	0	1	0	0	0	9481	1116	39	1	2087	1	MERTK	2	112767593	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3845599	112767593	130431780	338	13610											
IL1RN	3557	genome.wustl.edu	37	chr2	113888656	113888656	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacccattgagcctcatgcTctgttcttgggaatccatgg	10	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:113888656T>A	ENST00000409930.3	+	3	304	c.240T>A	c.(238-240)gcT>gcA	p.A80A	IL1RN_ENST00000354115.2_Silent_p.A62A|IL1RN_ENST00000361779.3_Silent_p.A46A|IL1RN_ENST00000259206.5_Silent_p.A83A|IL1RN_ENST00000409052.1_Silent_p.A46A	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	80					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	AGCCTCATGCTCTGTTCTTGG	0.493									Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0								ENSG00000136689						142	124	130					2																	113888656		2203	4300	6503	IL1RN	SO:0001819	synonymous_variant	0	Familial Cancer Database	Lichen Sclerosis, Familial	-	HGNC	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.240T>A	2.37:g.113888656T>A		Somatic	0	68	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Silent	SNP							pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.A83	ENST00000409930.3	37	c.249	CCDS46396.1	2																																																																																			-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1		0.493	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL1RN	protein_coding	OTTHUMT00000330802.1	T	NM_173841	-		113888656	1	no_errors	ENST00000259206	ensembl	human	known	74_37	silent	SNP	0.000	A	A	113888656	T	A	113888656	2	1	196	1	0	0	0	0	0	0	0	1	7667	1538	54	5		5	IL1RN	2	113888656	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1121063	113888656	129310717	339	13611											
FOXD4L1	200350	genome.wustl.edu	37	chr2	114257069	114257069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatcgagggcggcggccCgagcgacccctcagagtttg	15	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:114257069C>T	ENST00000306507.5	+	1	409	c.236C>T	c.(235-237)cCg>cTg	p.P79L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	79					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GGCGGCGGCCCGAGCGACCCC	0.701																																																	0								ENSG00000184492						49	69	62					2																	114257069		2155	4179	6334	FOXD4L1	SO:0001583	missense	0			-	HGNC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.236C>T	2.37:g.114257069C>T	ENSP00000302756:p.Pro79Leu	Somatic	0	100	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	109	22.14	B3KWN1|B9EGF3	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P79L	ENST00000306507.5	37	c.236	CCDS2117.1	2	.	.	.	.	.	.	.	.	.	.	.	11.29	1.595839	0.28445	.	.	ENSG00000184492	ENST00000306507	D	0.94897	-3.55	2.67	-1.17	0.09648	.	1.848720	0.03897	N	0.279760	D	0.86632	0.5979	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.74500	-0.3645	10	0.20046	T	0.44	.	2.1228	0.03730	0.1883:0.4854:0.1866:0.1396	.	79	Q9NU39	FX4L1_HUMAN	L	79	ENSP00000302756:P79L	ENSP00000302756:P79L	P	+	2	0	FOXD4L1	113973539	0.000000	0.05858	0.002000	0.10522	0.328000	0.28507	-3.444000	0.00469	-0.013000	0.14199	0.184000	0.17185	CCG	-	NULL		0.701	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	protein_coding	OTTHUMT00000254148.1	C	NM_012184	-		114257069	1	no_errors	ENST00000306507	ensembl	human	known	74_37	missense	SNP	0.001	T	T	114257069	C	T	114257069	3	4	196	1	0	0	0	0	1	0	0	0	6002	652	23	1	238	1	FOXD4L1	2	114257069	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	368413	114257069	128942304	340	13612											
DPP10	57628	genome.wustl.edu	37	chr2	116599908	116599908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctaccacaggaaccagAagaagatgaataatggactg	11	7	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:116599908A>G	ENST00000410059.1	+	26	2858	c.2378A>G	c.(2377-2379)gAa>gGa	p.E793G	DPP10_ENST00000409163.1_Missense_Mutation_p.E743G|DPP10_ENST00000310323.8_Missense_Mutation_p.E786G|DPP10_ENST00000393147.2_Missense_Mutation_p.E797G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	793						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGAACCAGAAGAAGATGAA	0.373																																																	0								ENSG00000175497						85	84	84					2																	116599908		2203	4300	6503	DPP10	SO:0001583	missense	0			-	HGNC	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2378A>G	2.37:g.116599908A>G	ENSP00000386565:p.Glu793Gly	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	39	39.06	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.E797G	ENST00000410059.1	37	c.2390	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986729	0.53934	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.19394	2.15;2.16;2.15;2.16	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.67397	2.05	0.51767	D	0.999939	P;D;P;P	0.71674	0.941;0.998;0.949;0.949	P;D;P;P	0.72982	0.79;0.979;0.621;0.621	T	0.25813	-1.0121	10	0.44086	T	0.13	-3.7827	15.4929	0.75624	1.0:0.0:0.0:0.0	.	786;797;789;793	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	793;743;797;786	ENSP00000386565:E793G;ENSP00000387038:E743G;ENSP00000376855:E797G;ENSP00000309066:E786G	ENSP00000309066:E786G	E	+	2	0	DPP10	116316378	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	8.010000	0.88615	2.308000	0.77769	0.533000	0.62120	GAA	-	NULL		0.373	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	A	NM_020868	-		116599908	1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	SNP	1.000	G	G	116599908	A	G	116599908	3	3	196	1	0	0	0	0	1	0	0	0	4729	246	9	5	2651	5	DPP10	2	116599908	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2342839	116599908	126599465	341	13613											
MARCO	8685	genome.wustl.edu	37	chr2	119749371	119749371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccctgcaggtgtgaaggGagaacaggggagcccagggc	19	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:119749371G>A	ENST00000327097.4	+	14	1262	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	MARCO_ENST00000541757.1_Missense_Mutation_p.G298E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	376	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGTGAAGGGAGAACAGGGG	0.577																																					GBM(8;18 374 7467 11269 32796)												0								ENSG00000019169						30	30	30					2																	119749371		2197	4298	6495	MARCO	SO:0001583	missense	0			-	HGNC	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1127G>A	2.37:g.119749371G>A	ENSP00000318916:p.Gly376Glu	Somatic	0	57	0		0.52429534266604	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	60	22.08	B4DW79|Q9Y5S3	Missense_Mutation	SNP							pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G376E	ENST00000327097.4	37	c.1127	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749541	0.30955	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99619	-6.28;-6.28	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.99796	0.9913	H	0.98199	4.17	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.97045	0.9760	9	.	.	.	.	15.2568	0.73591	0.0:0.0:1.0:0.0	.	376	Q9UEW3	MARCO_HUMAN	E	376;376;298	ENSP00000318916:G376E;ENSP00000441769:G298E	.	G	+	2	0	MARCO	119465841	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.506000	0.60428	2.735000	0.93741	0.655000	0.94253	GGA	-	pfam_Collagen		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	protein_coding	OTTHUMT00000254190.2	G	NM_006770	-		119749371	1	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	SNP	0.998	A	A	119749371	G	A	119749371	3	1	196	1	0	0	0	0	1	0	0	0	9313	1174	41	2	1181	2	MARCO	2	119749371	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3149463	119749371	123450002	342	13614											
MARCO	8685	genome.wustl.edu	37	chr2	119750716	119750716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgaaaactcagtgtcCgtcaggattgtcggcagtag	13	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:119750716C>T	ENST00000327097.4	+	16	1404	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	MARCO_ENST00000541757.1_Silent_p.S345S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	423					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACTCAGTGTCCGTCAGGATTG	0.517																																					GBM(8;18 374 7467 11269 32796)												0								ENSG00000019169						115	106	109					2																	119750716		2203	4300	6503	MARCO	SO:0001819	synonymous_variant	0			-	HGNC	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1269C>T	2.37:g.119750716C>T		Somatic	0	86	0		0.52429534266604	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	71	39.83	B4DW79|Q9Y5S3	Silent	SNP							pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.S423	ENST00000327097.4	37	c.1269	CCDS2124.1	2																																																																																			-	superfamily_Srcr_rcpt-rel,prints_SRCR		0.517	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	protein_coding	OTTHUMT00000254190.2	C	NM_006770	-		119750716	1	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	SNP	0.000	T	T	119750716	C	T	119750716	2	4	196	1	0	0	0	0	0	0	0	1	9313	639	23	1		1	MARCO	2	119750716	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1345	119750716	123448657	343	13615											
CYP27C1	339761	genome.wustl.edu	37	chr2	127957113	127957113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgtcaacatgaatttGgcctgtttgaaaacagtatt	8	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:127957113G>T	ENST00000335247.7	-	4	521	c.391C>A	c.(391-393)Caa>Aaa	p.Q131K	CYP27C1_ENST00000409327.1_Missense_Mutation_p.Q131K	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	131						membrane (GO:0016020)	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 (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACATGAATTTGGCCTGTTTGA	0.468																																																	0								ENSG00000186684						88	78	81					2																	127957113		2203	4300	6503	CYP27C1	SO:0001583	missense	0			-	HGNC	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.391C>A	2.37:g.127957113G>T	ENSP00000334128:p.Gln131Lys	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	Q6ZNI7	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.Q131K	ENST00000335247.7	37	c.391	CCDS33285.1	2	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461969	0.04508	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.67865	-0.29;-0.29	4.27	3.36	0.38483	.	0.360298	0.25958	N	0.027209	T	0.44244	0.1284	N	0.13098	0.295	0.34914	D	0.74773	B	0.06786	0.001	B	0.09377	0.004	T	0.45789	-0.9237	10	0.02654	T	1	0.4377	13.8055	0.63227	0.0:0.1549:0.8451:0.0	.	131	Q4G0S4	C27C1_HUMAN	K	131	ENSP00000334128:Q131K;ENSP00000387198:Q131K	ENSP00000334128:Q131K	Q	-	1	0	CYP27C1	127673583	1.000000	0.71417	0.983000	0.44433	0.908000	0.53690	2.931000	0.48932	0.737000	0.32582	0.563000	0.77884	CAA	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.468	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27C1	protein_coding	OTTHUMT00000331046.1	G	NM_001001665	-		127957113	-1	no_errors	ENST00000335247	ensembl	human	known	74_37	missense	SNP	0.992	T	T	127957113	G	T	127957113	3	4	196	1	0	0	0	0	1	0	0	0	4162	1357	47	3	747	3	CYP27C1	2	127957113	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8206397	127957113	115242260	344	13616											
MYO7B	4648	genome.wustl.edu	37	chr2	128342362	128342362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttcttccaggggacagatCtcaccatgctgcaaaagctg	11	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:128342362C>T	ENST00000409816.2	+	13	1596	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F	MYO7B_ENST00000428314.1_Missense_Mutation_p.L522F|MYO7B_ENST00000389524.4_Missense_Mutation_p.L522F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	522	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGGACAGATCTCACCATGCT	0.557																																																	0								ENSG00000169994						117	122	120					2																	128342362		2069	4211	6280	MYO7B	SO:0001583	missense	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1564C>T	2.37:g.128342362C>T	ENSP00000386461:p.Leu522Phe	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	Q14786|Q8TEE1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.L522F	ENST00000409816.2	37	c.1564	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	8.666	0.901640	0.17760	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87334	-2.24;-2.24;-2.24	4.74	-6.77	0.01727	Myosin head, motor domain (2);	0.990820	0.08214	N	0.980285	T	0.76926	0.4056	L	0.33485	1.01	0.09310	N	1	B	0.20459	0.045	B	0.17433	0.018	T	0.62572	-0.6826	10	0.54805	T	0.06	.	8.5974	0.33723	0.3056:0.2974:0.397:0.0	.	522	Q6PIF6	MYO7B_HUMAN	F	522	ENSP00000374175:L522F;ENSP00000415090:L522F;ENSP00000386461:L522F	ENSP00000374175:L522F	L	+	1	0	MYO7B	128058832	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-0.333000	0.07894	-1.221000	0.02591	-0.976000	0.02587	CTC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.557	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	C	XM_291001	-		128342362	1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	SNP	0.000	T	T	128342362	C	T	128342362	3	4	196	1	0	0	0	0	1	0	0	0	10085	913	32	2	1614	2	MYO7B	2	128342362	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	385249	128342362	114857011	345	13617											
UGGT1	56886	genome.wustl.edu	37	chr2	128867235	128867235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgaacctccaccagaaGgatgtaattcgtttttttca	7	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:128867235G>A	ENST00000259253.6	+	5	483	c.436G>A	c.(436-438)Gga>Aga	p.G146R	UGGT1_ENST00000375990.3_Missense_Mutation_p.G122R	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	146					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCACCAGAAGGATGTAATTC	0.368																																																	0								ENSG00000136731						183	169	174					2																	128867235		2203	4300	6503	UGGT1	SO:0001583	missense	0			-	HGNC	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.436G>A	2.37:g.128867235G>A	ENSP00000259253:p.Gly146Arg	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	36	43.75	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP							pfam_UDP-g_GGtrans	p.G146R	ENST00000259253.6	37	c.436	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794177	0.31777	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08720	3.06;3.06	5.5	5.5	0.81552	.	0.108147	0.64402	D	0.000005	T	0.13243	0.0321	M	0.78049	2.395	0.50171	D	0.999853	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.03587	-1.1022	10	0.22109	T	0.4	.	13.6694	0.62416	0.0753:0.0:0.9247:0.0	.	122;146	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	R	122;146	ENSP00000365158:G122R;ENSP00000259253:G146R	ENSP00000259253:G146R	G	+	1	0	UGGT1	128583705	1.000000	0.71417	0.946000	0.38457	0.234000	0.25298	5.116000	0.64661	2.736000	0.93811	0.591000	0.81541	GGA	-	NULL		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	protein_coding	OTTHUMT00000254435.2	G	NM_020120	-		128867235	1	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	SNP	0.824	A	A	128867235	G	A	128867235	3	1	196	1	0	0	0	0	1	0	0	0	16948	1001	35	2	454	2	UGGT1	2	128867235	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	524873	128867235	114332138	346	13618											
POTEF	728378	genome.wustl.edu	37	chr2	130869582	130869582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataccttccatatctatcCagtgcatttaaattcgcttt	3	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:130869582C>T	ENST00000409914.2	-	6	1302	c.903G>A	c.(901-903)ctG>ctA	p.L301L	POTEF_ENST00000357462.5_Silent_p.L301L|POTEF_ENST00000360967.5_Silent_p.L301L|POTEF_ENST00000361163.4_Silent_p.L311L|RNU6-1049P_ENST00000516414.1_RNA|AC018804.3_ENST00000433507.1_RNA	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	301					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CATATCTATCCAGTGCATTTA	0.318																																																	0								ENSG00000196604						29	39	36					2																	130869582		2017	4207	6224	POTEF	SO:0001819	synonymous_variant	0			-	HGNC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.903G>A	2.37:g.130869582C>T		Somatic	0	152	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	106	94	53.00	A6NC34	Silent	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.L301	ENST00000409914.2	37	c.903	CCDS46409.1	2																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.318	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	protein_coding	OTTHUMT00000331889.2	C	NM_001099771	-		130869582	-1	no_errors	ENST00000357462	ensembl	human	known	74_37	silent	SNP	0.000	T	T	130869582	C	T	130869582	2	4	196	1	0	0	0	0	0	0	0	1	12267	581	21	2		2	POTEF	2	130869582	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2002347	130869582	112329791	347	13619											
POTEE	445582	genome.wustl.edu	37	chr2	132021885	132021885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcatcaccatcggcaacGagcggttccgctgccccgag	12	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:132021885G>A	ENST00000356920.5	+	15	2951	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	953	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CATCGGCAACGAGCGGTTCCG	0.602																																																	0								ENSG00000188219						12	14	14					2																	132021885		1471	3003	4474	POTEE	SO:0001583	missense	0			-	HGNC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2857G>A	2.37:g.132021885G>A	ENSP00000439189:p.Glu953Lys	Somatic	0	91	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	126	10.64	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.E953K	ENST00000356920.5	37	c.2857	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	17.61	3.433426	0.62844	.	.	ENSG00000188219	ENST00000356920	D	0.95205	-3.64	.	.	.	.	.	.	.	.	D	0.97807	0.9280	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95231	0.8342	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	953	Q6S8J3	POTEE_HUMAN	K	953	ENSP00000439189:E953K	ENSP00000439189:E953K	E	+	1	0	AC131180.1	131738355	1.000000	0.71417	0.189000	0.23252	0.192000	0.23643	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAG	-	pfam_Actin-related,smart_Actin-related		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	protein_coding		G	NM_001083538	-		132021885	1	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132021885	G	A	132021885	3	1	196	1	0	0	0	0	1	0	0	0	12266	1059	37	1	2915	1	POTEE	2	132021885	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1152303	132021885	111177488	348	13620											
YSK4	80122	genome.wustl.edu	37	chr2	135744628	135744628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttaggtttctgagtcCggtgagttgattgcttcttt	11	6	2	3	rs200920212		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:135744628C>T	ENST00000375845.3	-	7	1844	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R492Q|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R622Q|MAP3K19_ENST00000392917.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	605							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTTCTGAGTCCGGTGAGTTGA	0.453																																																	0								ENSG00000176601	C	,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	136	144	142		,1814	0.1	0	2		142	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,benign	,605/1329	135744628	4,13002	2203	4300	6503	MAP3K19	SO:0001583	missense	0			-	HGNC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1814G>A	2.37:g.135744628C>T	ENSP00000365005:p.Arg605Gln	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R605Q	ENST00000375845.3	37	c.1814	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	0.474	-0.883086	0.02530	4.54E-4	2.33E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.69561	-0.41;-0.41;1.96	5.28	0.114	0.14639	.	1.335030	0.05119	N	0.490305	T	0.40862	0.1134	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B	0.17852	0.014;0.024;0.008	B;B;B	0.10450	0.003;0.005;0.001	T	0.21245	-1.0251	10	0.09084	T	0.74	.	9.9729	0.41765	0.0:0.5409:0.0:0.4591	.	492;622;605	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Q	605;492;622	ENSP00000365005:R605Q;ENSP00000351140:R492Q;ENSP00000376647:R622Q	ENSP00000351140:R492Q	R	-	2	0	YSK4	135461098	0.000000	0.05858	0.001000	0.08648	0.613000	0.37349	-0.525000	0.06214	0.094000	0.17404	-0.137000	0.14449	CGG	-	NULL		0.453	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	protein_coding	OTTHUMT00000158244.1	C	NM_025052	rs200920212		135744628	-1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	SNP	0.000	T	T	135744628	C	T	135744628	3	4	196	1	0	0	0	0	1	0	0	0	17502	652	23	1	2188	1	YSK4	2	135744628	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3722743	135744628	107454745	349	13621											
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135881809	135881809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttggtgcctgcgaagatCctattaggtgagaatttcaa	10	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:135881809C>T	ENST00000264158.8	+	9	866	c.823C>T	c.(823-825)Cct>Tct	p.P275S	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P231S|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P275S	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	275					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CTGCGAAGATCCTATTAGGTG	0.358																																																	0								ENSG00000115839						126	131	129					2																	135881809		2203	4300	6503	RAB3GAP1	SO:0001583	missense	0			-	HGNC	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.823C>T	2.37:g.135881809C>T	ENSP00000264158:p.Pro275Ser	Somatic	0	155	0		0.52429534266604	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	88	40.54	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP							NULL	p.P275S	ENST00000264158.8	37	c.823	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158648	0.78226	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.65916	-0.18;-0.18;-0.18	5.49	4.62	0.57501	.	0.098474	0.64402	N	0.000001	T	0.76069	0.3936	M	0.63428	1.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78056	-0.2353	10	0.56958	D	0.05	-15.6727	14.5714	0.68213	0.0:0.9294:0.0:0.0706	.	275;275	C9J837;Q15042	.;RB3GP_HUMAN	S	275;231;275	ENSP00000264158:P275S;ENSP00000444306:P231S;ENSP00000411418:P275S	ENSP00000264158:P275S	P	+	1	0	RAB3GAP1	135598279	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.997000	0.70646	1.449000	0.47699	0.557000	0.71058	CCT	-	NULL		0.358	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	protein_coding	OTTHUMT00000337514.2	C	NM_012233	-		135881809	1	no_errors	ENST00000264158	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135881809	C	T	135881809	3	4	196	1	0	0	0	0	1	0	0	0	12943	855	30	2	857	2	RAB3GAP1	2	135881809	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	137181	135881809	107317564	350	13622											
R3HDM1	23518	genome.wustl.edu	37	chr2	136418864	136418864	+	Missense_Mutation	SNP	G	G	A													cagcctgttattgcgctccaGgccactatcactccagccaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:136418864G>A	ENST00000264160.4	+	18	2318	c.1948G>A	c.(1948-1950)Ggc>Agc	p.G650S	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G521S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G651S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G595S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G522S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	650							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)		TTGCGCTCCAGGCCACTATCA	0.448																																																	0								ENSG00000048991						151	132	138					2																	136418864		2203	4300	6503	R3HDM1	SO:0001583	missense	0			-	HGNC	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.1948G>A	2.37:g.136418864G>A	ENSP00000264160:p.Gly650Ser	Somatic	0	65	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	49	31.94	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G650S	ENST00000264160.4	37	c.1948	CCDS2177.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.864891|2.864891	0.51482|0.51482	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703	T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66|.	5.65|5.65	3.78|3.78	0.43462|0.43462	.|.	0.451023|.	0.24879|.	N|.	0.034873|.	T|T	0.58878|0.58878	0.2153|0.2153	M|M	0.72118|0.72118	2.19|2.19	0.31827|0.31827	N|N	0.625257|0.625257	B;B;B;B|.	0.26845|.	0.161;0.065;0.051;0.051|.	B;B;B;B|.	0.28638|.	0.092;0.01;0.012;0.007|.	T|T	0.63444|0.63444	-0.6636|-0.6636	10|5	0.35671|.	T|.	0.21|.	-2.0174|-2.0174	8.6558|8.6558	0.34062|0.34062	0.3147:0.0:0.6853:0.0|0.3147:0.0:0.6853:0.0	.|.	522;651;595;650|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	S|K	522;650;521;595;651|373	ENSP00000386457:G522S;ENSP00000264160:G650S;ENSP00000331396:G521S;ENSP00000386877:G595S;ENSP00000387010:G651S|.	ENSP00000264160:G650S|.	G|R	+|+	1|2	0|0	R3HDM1|R3HDM1	136135334|136135334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	1.425000|1.425000	0.34859|0.34859	0.654000|0.654000	0.30846|0.30846	0.557000|0.557000	0.71058|0.71058	GGC|AGG	-	NULL		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	G	NM_015361	-		136418864	1	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136418864	G	A	136418864	3	1	196	1	0	0	0	0	1	0	0	0	12895	1000	35	2	2010	2	R3HDM1	2	136418864	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	537055	136418864	106780509	351	13623	230	2									
R3HDM1	23518	genome.wustl.edu	37	chr2	136418865	136418865	+	Missense_Mutation	SNP	G	G	A													agcctgttattgcgctccagGccactatcactccagccaac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:136418865G>A	ENST00000264160.4	+	18	2319	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G521D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G651D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G595D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G522D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	650							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)		TGCGCTCCAGGCCACTATCAC	0.448																																																	0								ENSG00000048991						153	133	139					2																	136418865		2203	4300	6503	R3HDM1	SO:0001583	missense	0			-	HGNC	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.1949G>A	2.37:g.136418865G>A	ENSP00000264160:p.Gly650Asp	Somatic	0	66	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	48	30.14	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G650D	ENST00000264160.4	37	c.1949	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759533	0.69763	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.65	5.65	0.86999	.	0.451023	0.24879	N	0.034873	T	0.51822	0.1697	M	0.72118	2.19	0.34875	D	0.744045	P;P;P;P	0.49253	0.921;0.722;0.666;0.666	P;B;B;B	0.46479	0.518;0.169;0.194;0.115	T	0.67003	-0.5780	10	0.51188	T	0.08	-2.0174	10.2722	0.43489	0.1485:0.0:0.8515:0.0	.	522;651;595;650	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	D	522;650;521;595;651	ENSP00000386457:G522D;ENSP00000264160:G650D;ENSP00000331396:G521D;ENSP00000386877:G595D;ENSP00000387010:G651D	ENSP00000264160:G650D	G	+	2	0	R3HDM1	136135335	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.013000	0.49582	2.634000	0.89283	0.557000	0.71058	GGC	-	NULL		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	G	NM_015361	-		136418865	1	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136418865	G	A	136418865	3	1	196	1	0	0	0	0	1	0	0	0	12895	1203	42	2	2011	2	R3HDM1	2	136418865	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	136418865	106780508	352	13624	230	2									
THSD7B	80731	genome.wustl.edu	37	chr2	137917851	137917851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcagctctgcaatatcCcttgctctacggactgcata	6	15	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:137917851C>T	ENST00000409968.1	+	6	1616	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	THSD7B_ENST00000413152.2_Missense_Mutation_p.P449S|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.P480S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	480	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGCAATATCCCTTGCTCTAC	0.517																																																	0								ENSG00000144229						166	166	166					2																	137917851		2049	4186	6235	THSD7B	SO:0001583	missense	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1438C>T	2.37:g.137917851C>T	ENSP00000387145:p.Pro480Ser	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	24.19		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.P480S	ENST00000409968.1	37	c.1438		2	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277636	0.59758	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	0.04;0.04;0.04	5.96	5.96	0.96718	.	0.046747	0.85682	D	0.000000	T	0.79569	0.4468	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.76372	-0.2983	10	0.40728	T	0.16	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	480;449	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	480;480;449	ENSP00000387145:P480S;ENSP00000272643:P480S;ENSP00000413841:P449S	ENSP00000272643:P480S	P	+	1	0	THSD7B	137634321	0.996000	0.38824	0.907000	0.35723	0.043000	0.13939	4.352000	0.59404	2.831000	0.97527	0.650000	0.86243	CCT	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.517	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9	-		137917851	1	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	SNP	0.996	T	T	137917851	C	T	137917851	3	4	196	1	0	0	0	0	1	0	0	0	15887	623	22	2	1363	2	THSD7B	2	137917851	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1498986	137917851	105281522	353	13625											
LRP1B	53353	genome.wustl.edu	37	chr2	141214171	141214171	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcatgcagagatgtttggaGactaaagataagaaagaaac	10	4	1	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:141214171G>A	ENST00000389484.3	-	62	10787	c.9816C>T	c.(9814-9816)gtC>gtT	p.V3272V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3272					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)		GATGTTTGGAGACTAAAGATA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						76	75	75					2																	141214171		2203	4300	6503	LRP1B	SO:0001630	splice_region_variant	0			-	HGNC	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.9815-1C>T	2.37:g.141214171G>A		Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	50	27.54	Q8WY29|Q8WY30|Q8WY31	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3272	ENST00000389484.3	37	c.9816	CCDS2182.1	2																																																																																			-	superfamily_Growth_fac_rcpt_N_dom		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-	Silent	141214171	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	0.980	A	A	141214171	G	A	141214171	5	1	196	1	0	0	0	0	0	0	1	0	8957	956	33	2	4103	2	LRP1B	2	141214171	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3296320	141214171	101985202	354	13626											
ARHGAP15	55843	genome.wustl.edu	37	chr2	144525590	144525590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctccaagaacctcatgtCcacgcaaagcttggggattg	10	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:144525590C>T	ENST00000295095.6	+	14	1444	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	426	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AACCTCATGTCCACGCAAAGC	0.448																																																	0								ENSG00000075884						125	123	124					2																	144525590		2203	4300	6503	ARHGAP15	SO:0001583	missense	0			-	HGNC	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1277C>T	2.37:g.144525590C>T	ENSP00000295095:p.Ser426Phe	Somatic	0	45	0		0.52429534266604	28	15.15	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	27	48.08	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S426F	ENST00000295095.6	37	c.1277	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273603	0.80580	.	.	ENSG00000075884	ENST00000295095	T	0.13089	2.62	5.73	5.73	0.89815	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	H	0.94847	3.59	0.54753	D	0.999981	D	0.56287	0.975	D	0.65573	0.936	T	0.63269	-0.6675	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	426	Q53QZ3	RHG15_HUMAN	F	426	ENSP00000295095:S426F	ENSP00000295095:S426F	S	+	2	0	ARHGAP15	144242060	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	TCC	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	protein_coding	OTTHUMT00000254793.2	C	NM_018460	-		144525590	1	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144525590	C	T	144525590	3	4	196	1	0	0	0	0	1	0	0	0	866	855	30	2	1327	2	ARHGAP15	2	144525590	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3311419	144525590	98673783	355	13627											
NMI	9111	genome.wustl.edu	37	chr2	152135416	152135420	+	Frame_Shift_Del	DEL	GAACA	GAACA	-													ctttcgagctcacttgaaacGaacaggagatatttgacaac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	GAACA	GAACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152135416_152135420delGAACA	ENST00000243346.5	-	4	732_736	c.262_266delTGTTC	c.(262-267)tgttcgfs	p.CS88fs		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	88					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CACTTGAAACGAACAGGAGATATTT	0.332																																																	0								ENSG00000123609																																			NMI	SO:0001589	frameshift_variant	0				HGNC	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.262_266delTGTTC	2.37:g.152135416_152135420delGAACA	ENSP00000243346:p.Cys88fs	Somatic					0.52429534266604	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B5BU69|Q53TI8|Q9BVE5	Frame_Shift_Del	DEL							pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N	p.C88fs	ENST00000243346.5	37	c.266_262	CCDS2192.1	2																																																																																			-	pfam_Nmi/IFP35_N		0.332	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMI	protein_coding	OTTHUMT00000254817.2	GAACA	NM_004688			152135420	-1	no_errors	ENST00000243346	ensembl	human	known	74_37	frame_shift_del	DEL	0.980:0.986:0.990:0.991:0.999	-	-	152135420	GAACA	-	152135416	7	5	196	1	0	1	0	1	0	0	0	0	10499	1059	37	0	677	0	NMI	2	152135416	Frame_Shift_Del	DEL	GAACA	TCGA-QC-A7B5-01A-11D-A33E-09	7609826	152135416	91063957	356	13628											
RIF1	55183	genome.wustl.edu	37	chr2	152321624	152321624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattttaaaactgttggcCcgtgtttaggagactcgaaa	9	6	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152321624C>T	ENST00000243326.5	+	29	6073	c.5590C>T	c.(5590-5592)Ccg>Tcg	p.P1864S	RIF1_ENST00000428287.2_Missense_Mutation_p.P1864S|RIF1_ENST00000430328.2_Missense_Mutation_p.P1864S|RIF1_ENST00000444746.2_Missense_Mutation_p.P1864S|RIF1_ENST00000453091.2_Missense_Mutation_p.P1864S			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)		AACTGTTGGCCCGTGTTTAGG	0.363																																																	0								ENSG00000080345						57	62	60					2																	152321624		2203	4300	6503	RIF1	SO:0001583	missense	0			-	HGNC	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.5590C>T	2.37:g.152321624C>T	ENSP00000243326:p.Pro1864Ser	Somatic	0	73	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	39	48.00	A0AVS0|Q9NS16	Missense_Mutation	SNP							pfam_Rif1_N,superfamily_ARM-type_fold	p.P1864S	ENST00000243326.5	37	c.5590	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400879	0.25291	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.19938	2.12;2.11;2.11;2.12;2.11	5.68	2.91	0.33838	.	0.572459	0.19123	N	0.122124	T	0.13415	0.0325	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.29301	0.155;0.241	B;B	0.26094	0.03;0.066	T	0.17349	-1.0372	10	0.38643	T	0.18	-2.9569	5.4949	0.16797	0.0:0.5651:0.1364:0.2985	.	1864;1864	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	S	1864	ENSP00000390181:P1864S;ENSP00000414615:P1864S;ENSP00000415691:P1864S;ENSP00000243326:P1864S;ENSP00000416123:P1864S	ENSP00000243326:P1864S	P	+	1	0	RIF1	152029870	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.121000	0.15667	0.762000	0.33152	-0.143000	0.13931	CCG	-	NULL		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	protein_coding	OTTHUMT00000254836.3	C		-		152321624	1	no_errors	ENST00000243326	ensembl	human	known	74_37	missense	SNP	0.001	T	T	152321624	C	T	152321624	3	4	196	1	0	0	0	0	1	0	0	0	13367	623	22	2	5704	2	RIF1	2	152321624	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	186208	152321624	90877749	357	13629											
NEB	4703	genome.wustl.edu	37	chr2	152381747	152381747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcatgatggagtagttgGattttcctttctccttgaca	9	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152381747G>A	ENST00000172853.10	-	123	17246	c.17099C>T	c.(17098-17100)tCc>tTc	p.S5700F	NEB_ENST00000397345.3_Missense_Mutation_p.S7401F|NEB_ENST00000409198.1_Missense_Mutation_p.S5700F|NEB_ENST00000427231.2_Missense_Mutation_p.S7401F|NEB_ENST00000603639.1_Missense_Mutation_p.S7401F|NEB_ENST00000604864.1_Missense_Mutation_p.S7401F			P20929	NEBU_HUMAN	nebulin	5700					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)		GGAGTAGTTGGATTTTCCTTT	0.418																																																	0								ENSG00000183091						142	132	135					2																	152381747		1893	4106	5999	NEB	SO:0001583	missense	0			-	HGNC	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.17099C>T	2.37:g.152381747G>A	ENSP00000172853:p.Ser5700Phe	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.S7401F	ENST00000172853.10	37	c.22202		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.879683|4.879683	0.91740|0.91740	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.08634	.|3.19;3.14;3.2;3.07;3.19	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.102178	.|0.64402	.|D	.|0.000001	T|T	0.28466|0.28466	0.0704|0.0704	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.974	.|D;D;P	.|0.91635	.|0.998;0.999;0.789	T|T	0.03202|0.03202	-1.1061|-1.1061	5|10	.|0.10902	.|T	.|0.67	.|.	20.6282|20.6282	0.99521|0.99521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5700;7401;2131	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	24|5700;7401;7401;1749;2131;5700	.|ENSP00000386259:S5700F;ENSP00000380505:S7401F;ENSP00000416578:S7401F;ENSP00000410961:S2131F;ENSP00000172853:S5700F	.|ENSP00000172853:S5700F	P|S	-|-	1|2	0|0	NEB|NEB	152089993|152089993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.832000|9.832000	0.99423|0.99423	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	CCA|TCC	-	NULL		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152381747	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	A	A	152381747	G	A	152381747	3	1	196	1	0	0	0	0	1	0	0	0	10304	1174	41	2	3503	2	NEB	2	152381747	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	60123	152381747	90817626	358	13630											
NEB	4703	genome.wustl.edu	37	chr2	152512421	152512421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgctcgggtgctggcgGtatttctgatcactggcata	13	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152512421G>A	ENST00000172853.10	-	50	6759	c.6612C>T	c.(6610-6612)taC>taT	p.Y2204Y	NEB_ENST00000397345.3_Silent_p.Y2204Y|NEB_ENST00000409198.1_Silent_p.Y2204Y|NEB_ENST00000427231.2_Silent_p.Y2204Y|NEB_ENST00000603639.1_Silent_p.Y2204Y|NEB_ENST00000604864.1_Silent_p.Y2204Y			P20929	NEBU_HUMAN	nebulin	2204					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)		GGTGCTGGCGGTATTTCTGAT	0.473																																																	0								ENSG00000183091						157	151	153					2																	152512421		1986	4157	6143	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.6612C>T	2.37:g.152512421G>A		Somatic	0	71	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	40	45.95	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y2204	ENST00000172853.10	37	c.6612		2																																																																																			-	smart_Nebulin_35r-motif		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152512421	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	1.000	A	A	152512421	G	A	152512421	2	1	196	1	0	0	0	0	0	0	0	1	10304	1256	44	2		2	NEB	2	152512421	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	130674	152512421	90686952	359	13631											
NEB	4703	genome.wustl.edu	37	chr2	152521285	152521285	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacttacatcactcatggtGatttggtttactctggagag	9	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152521285G>A	ENST00000172853.10	-	43	5478	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	NEB_ENST00000397345.3_Silent_p.I1777I|NEB_ENST00000409198.1_Silent_p.I1777I|NEB_ENST00000427231.2_Silent_p.I1777I|NEB_ENST00000603639.1_Silent_p.I1777I|NEB_ENST00000604864.1_Silent_p.I1777I			P20929	NEBU_HUMAN	nebulin	1777					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)		CACTCATGGTGATTTGGTTTA	0.418																																																	0								ENSG00000183091						115	101	105					2																	152521285		1893	4121	6014	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.5331C>T	2.37:g.152521285G>A		Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	50	43.82	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I1777	ENST00000172853.10	37	c.5331		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543	-		152521285	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.564	A	A	152521285	G	A	152521285	2	1	196	1	0	0	0	0	0	0	0	1	10304	1280	45	2		2	NEB	2	152521285	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8864	152521285	90678088	360	13632											
GALNT13	114805	genome.wustl.edu	37	chr2	155098681	155098681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactatctactctcagaggtCatcttggtagatgatgccag	9	10	4	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:155098681C>T	ENST00000392825.3	+	5	1017	c.450C>T	c.(448-450)gtC>gtT	p.V150V	GALNT13_ENST00000409237.1_Silent_p.V150V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	150	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCAGAGGTCATCTTGGTAG	0.348																																																	0								ENSG00000144278						127	117	120					2																	155098681		2203	4300	6503	GALNT13	SO:0001819	synonymous_variant	0			-	HGNC	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.450C>T	2.37:g.155098681C>T		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V150	ENST00000392825.3	37	c.450	CCDS2199.1	2																																																																																			-	pfam_Glyco_trans_2		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	protein_coding	OTTHUMT00000254870.2	C	NM_052917	-		155098681	1	no_errors	ENST00000409237	ensembl	human	known	74_37	silent	SNP	1.000	T	T	155098681	C	T	155098681	2	4	196	1	0	0	0	0	0	0	0	1	6213	813	29	2		2	GALNT13	2	155098681	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2577396	155098681	88100692	361	13633											
PLA2R1	22925	genome.wustl.edu	37	chr2	160811815	160811815	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttgagagtaaggcacagaGaggaatgtgtttctgaactt	12	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:160811815G>A	ENST00000283243.7	-	23	3402	c.3196C>T	c.(3196-3198)Ctc>Ttc	p.L1066F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.L1066F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1066	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAGGCACAGAGAGGAATGTGT	0.313																																																	0								ENSG00000153246						115	111	112					2																	160811815		2203	4300	6503	PLA2R1	SO:0001583	missense	0			-	HGNC	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3196C>T	2.37:g.160811815G>A	ENSP00000283243:p.Leu1066Phe	Somatic	0	116	0		0.52429534266604	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.79	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L1066F	ENST00000283243.7	37	c.3196	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714917	0.68844	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.54866	0.55;0.55	5.85	4.98	0.66077	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.187045	0.37012	N	0.002282	T	0.60869	0.2302	L	0.50919	1.6	0.45580	D	0.998522	P;D;D	0.58620	0.752;0.983;0.978	P;D;D	0.64776	0.756;0.929;0.913	T	0.56823	-0.7915	10	0.10636	T	0.68	.	12.9063	0.58154	0.0755:0.0:0.9245:0.0	.	1066;1066;1066	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	F	1066	ENSP00000283243:L1066F;ENSP00000376524:L1066F	ENSP00000283243:L1066F	L	-	1	0	PLA2R1	160520061	0.987000	0.35691	0.998000	0.56505	0.922000	0.55478	2.344000	0.44010	1.486000	0.48398	0.655000	0.94253	CTC	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.313	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	protein_coding	OTTHUMT00000333820.1	G		-		160811815	-1	no_errors	ENST00000283243	ensembl	human	known	74_37	missense	SNP	1.000	A	A	160811815	G	A	160811815	3	1	196	1	0	0	0	0	1	0	0	0	12012	942	33	2	1235	2	PLA2R1	2	160811815	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5713134	160811815	82387558	362	13634											
SLC4A10	57282	genome.wustl.edu	37	chr2	162751303	162751303	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaatgggatccaagcattCgaatagagcctcccaaaaat	9	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:162751303C>T	ENST00000446997.1	+	11	1402	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.R418*|SLC4A10_ENST00000535165.1_Silent_p.F407F|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.R407*|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.R407*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.R437*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	437					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCCAAGCATTCGAATAGAGCC	0.353																																																	0								ENSG00000144290						125	117	120					2																	162751303		1820	4082	5902	SLC4A10	SO:0001587	stop_gained	0			-	HGNC		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1309C>T	2.37:g.162751303C>T	ENSP00000393066:p.Arg437*	Somatic	0	100	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	105	17.97	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R437*	ENST00000446997.1	37	c.1309	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.373686	0.97515	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.37	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.551	0.76152	0.1393:0.8607:0.0:0.0	.	.	.	.	X	418;407;407;406;437;437;436	.	ENSP00000272716:R407X	R	+	1	2	SLC4A10	162459549	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.778000	0.47726	1.368000	0.46115	0.655000	0.94253	CGA	-	superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk		0.353	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	protein_coding	OTTHUMT00000333090.1	C	NM_022058	-		162751303	1	no_errors	ENST00000446997	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	162751303	C	T	162751303	4	4	196	1	0	0	0	0	0	1	0	0	14659	876	31	1	1436	1	SLC4A10	2	162751303	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1939488	162751303	80448070	363	13635											
FAP	2191	genome.wustl.edu	37	chr2	163074579	163074579	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactggtatatccgtatcatTaaattccgcatatgccaaaa	5	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:163074579T>A	ENST00000188790.4	-	9	886	c.679A>T	c.(679-681)Aat>Tat	p.N227Y	FAP_ENST00000443424.1_Missense_Mutation_p.N202Y	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCCGTATCATTAAATTCCGCA	0.333																																																	0								ENSG00000078098						106	108	107					2																	163074579		2203	4300	6503	FAP	SO:0001583	missense	0			-	HGNC	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.679A>T	2.37:g.163074579T>A	ENSP00000188790:p.Asn227Tyr	Somatic	0	48	0		0.52429534266604	18	57.14	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	33	50.75		Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9	p.N227Y	ENST00000188790.4	37	c.679	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348320	0.82132	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.38077	1.16;1.16	5.74	5.74	0.90152	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.89353	3.025	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.70016	0.967;0.94;0.94	T	0.73688	-0.3904	10	0.87932	D	0	-24.75	16.3426	0.83092	0.0:0.0:0.0:1.0	.	202;227;227	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	Y	227;202	ENSP00000188790:N227Y;ENSP00000411391:N202Y	ENSP00000188790:N227Y	N	-	1	0	FAP	162782825	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.368000	0.79567	2.317000	0.78254	0.460000	0.39030	AAT	-	pfam_Peptidase_S9B		0.333	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	protein_coding	OTTHUMT00000332852.2	T		-		163074579	-1	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	SNP	1.000	A	A	163074579	T	A	163074579	3	1	196	1	0	0	0	0	1	0	0	0	5675	1754	61	5	1675	5	FAP	2	163074579	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	323276	163074579	80124794	364	13636											
SCN1A	6323	genome.wustl.edu	37	chr2	166848835	166848835	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggatcccctttgctcctttGatcagacgtaggattcggcc	10	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:166848835G>A	ENST00000303395.4	-	26	4949	c.4950C>T	c.(4948-4950)atC>atT	p.I1650I	SCN1A_ENST00000375405.3_Silent_p.I1639I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1622I|SCN1A_ENST00000423058.2_Silent_p.I1650I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1650					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)	TTGCTCCTTTGATCAGACGTA	0.488																																																	0			GRCh37	CI072607	SCN1A	I		ENSG00000144285						116	113	114					2																	166848835		2203	4300	6503	SCN1A	SO:0001819	synonymous_variant	0			-	HGNC	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.4950C>T	2.37:g.166848835G>A		Somatic	0	125	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	133	27.17	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.I1650	ENST00000303395.4	37	c.4950	CCDS54413.1	2																																																																																			-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.488	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	G	NM_006920	-		166848835	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	silent	SNP	1.000	A	A	166848835	G	A	166848835	2	1	196	1	0	0	0	0	0	0	0	1	13922	1280	45	2		2	SCN1A	2	166848835	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3774256	166848835	76350538	365	13637											
XIRP2	129446	genome.wustl.edu	37	chr2	168103070	168103070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcataatttattgtcttCcacatcaaacaataaaatat	1	8	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168103070C>T	ENST00000409195.1	+	9	5257	c.5168C>T	c.(5167-5169)tCc>tTc	p.S1723F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1723F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1501F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1548					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						TTATTGTCTTCCACATCAAAC	0.363																																																	0								ENSG00000163092						116	111	113					2																	168103070		1856	4090	5946	XIRP2	SO:0001583	missense	0			-	HGNC	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.5168C>T	2.37:g.168103070C>T	ENSP00000386840:p.Ser1723Phe	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	37	41.27	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.S1723F	ENST00000409195.1	37	c.5168	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719225	0.48728	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03772	3.82;3.82;3.81	5.59	4.71	0.59529	.	0.229890	0.46758	N	0.000279	T	0.19685	0.0473	M	0.69823	2.125	0.54753	D	0.99998	D;D;P	0.89917	0.999;1.0;0.577	D;D;B	0.91635	0.997;0.999;0.139	T	0.00324	-1.1817	10	0.87932	D	0	-2.0632	13.1572	0.59524	0.0:0.9218:0.0:0.0782	.	1548;1548;1501	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	1723;1723;1501	ENSP00000386840:S1723F;ENSP00000295237:S1723F;ENSP00000387255:S1501F	ENSP00000295237:S1723F	S	+	2	0	XIRP2	167811316	0.994000	0.37717	0.943000	0.38184	0.546000	0.35178	2.981000	0.49329	1.364000	0.46038	0.650000	0.86243	TCC	-	NULL		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168103070	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.998	T	T	168103070	C	T	168103070	3	4	196	1	0	0	0	0	1	0	0	0	17437	855	30	2	5198	2	XIRP2	2	168103070	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1254235	168103070	75096303	366	13638			1	91		5	5	3012	N	T_C	6.877942e-05
XIRP2	129446	genome.wustl.edu	37	chr2	168103768	168103768	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagctgtgatggcaggaTcctcgggagagcagaaaaca	13	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168103768T>A	ENST00000409195.1	+	9	5955	c.5866T>A	c.(5866-5868)Tcc>Acc	p.S1956T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1956T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1734T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1781					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						GATGGCAGGATCCTCGGGAGA	0.423																																																	0								ENSG00000163092						46	43	44					2																	168103768		1872	4110	5982	XIRP2	SO:0001583	missense	0			-	HGNC	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.5866T>A	2.37:g.168103768T>A	ENSP00000386840:p.Ser1956Thr	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.S1956T	ENST00000409195.1	37	c.5866	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	T	2.089	-0.408888	0.04799	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02631	4.22;4.22;4.23	5.76	3.4	0.38934	.	1.038110	0.07517	N	0.909986	T	0.03477	0.0100	L	0.56769	1.78	0.09310	N	1	P;P;B	0.41848	0.651;0.763;0.225	B;B;B	0.31101	0.058;0.124;0.049	T	0.46414	-0.9193	10	0.40728	T	0.16	5.7882	5.9104	0.19025	0.2591:0.0:0.294:0.4469	.	1781;1781;1734	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1956;1956;1734	ENSP00000386840:S1956T;ENSP00000295237:S1956T;ENSP00000387255:S1734T	ENSP00000295237:S1956T	S	+	1	0	XIRP2	167812014	0.977000	0.34250	0.002000	0.10522	0.005000	0.04900	2.471000	0.45127	0.457000	0.26962	0.528000	0.53228	TCC	-	NULL		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	T	NM_152381	-		168103768	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.005	A	A	168103768	T	A	168103768	3	1	196	1	0	0	0	0	1	0	0	0	17437	1435	50	5	5896	5	XIRP2	2	168103768	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	698	168103768	75095605	367	13639			1	91		5	5	3012	N	T_C	6.877942e-05
XIRP2	129446	genome.wustl.edu	37	chr2	168105380	168105380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgaaagaaaacaattatCtattgactctgcaaactgtc	6	7	2	4	rs112479318		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168105380C>T	ENST00000409195.1	+	9	7567	c.7478C>T	c.(7477-7479)tCt>tTt	p.S2493F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2493F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2271F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2318					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						AAACAATTATCTATTGACTCT	0.393																																																	0								ENSG00000163092	C	,,,PHE/SER,PHE/SER	1,3797		0,1,1898	79	76	77		,,,7478,6812	5.2	0.2	2	dbSNP_132	77	0,8242		0,0,4121	no	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,155,155	0,1,6019	TT,TC,CC		0.0,0.0263,0.0083	,,,benign,benign	,,,2493/3550,2271/3328	168105380	1,12039	1899	4121	6020	XIRP2	SO:0001583	missense	0			-	HGNC	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.7478C>T	2.37:g.168105380C>T	ENSP00000386840:p.Ser2493Phe	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	48	33.33	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.S2493F	ENST00000409195.1	37	c.7478	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	3.913	-0.019674	0.07634	2.63E-4	0.0	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03065	4.06;4.06;4.06	6.05	5.17	0.71159	.	0.680579	0.14813	N	0.296903	T	0.06735	0.0172	L	0.57536	1.79	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.12837	0.003;0.008;0.008	T	0.19128	-1.0315	10	0.51188	T	0.08	-3.8948	13.4141	0.60958	0.0:0.8619:0.0:0.1381	.	2318;2318;2271	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2493;2493;2271	ENSP00000386840:S2493F;ENSP00000295237:S2493F;ENSP00000387255:S2271F	ENSP00000295237:S2493F	S	+	2	0	XIRP2	167813626	0.045000	0.20229	0.237000	0.24090	0.219000	0.24729	1.559000	0.36320	0.905000	0.36596	-0.829000	0.03081	TCT	-	NULL		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	rs112479318		168105380	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.003	T	T	168105380	C	T	168105380	3	4	196	1	0	0	0	0	1	0	0	0	17437	913	32	2	7508	2	XIRP2	2	168105380	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1612	168105380	75093993	368	13640			1	91		5	5	3012	N	T_C	6.877942e-05
XIRP2	129446	genome.wustl.edu	37	chr2	168105914	168105914	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggacattatgcaatccaaatCagcttgcgaaattaaacaaa	6	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168105914C>T	ENST00000409195.1	+	9	8101	c.8012C>T	c.(8011-8013)tCa>tTa	p.S2671L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2671L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2449L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2496					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						CAATCCAAATCAGCTTGCGAA	0.403																																																	0								ENSG00000163092						57	56	56					2																	168105914		1875	4092	5967	XIRP2	SO:0001583	missense	0			-	HGNC	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.8012C>T	2.37:g.168105914C>T	ENSP00000386840:p.Ser2671Leu	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	39	42.03	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.S2671L	ENST00000409195.1	37	c.8012	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462462	0.26248	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02472	4.28;4.28;4.28	6.07	4.04	0.47022	.	1.205390	0.05725	N	0.598439	T	0.02610	0.0079	N	0.20401	0.57	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.004	T	0.43278	-0.9401	10	0.23891	T	0.37	-0.3836	6.453	0.21914	0.0:0.7592:0.0:0.2408	.	2496;2496;2449	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2671;2671;2449;85	ENSP00000386840:S2671L;ENSP00000295237:S2671L;ENSP00000387255:S2449L	ENSP00000295237:S2671L	S	+	2	0	XIRP2	167814160	0.022000	0.18835	0.008000	0.14137	0.919000	0.55068	0.337000	0.19841	1.547000	0.49401	0.655000	0.94253	TCA	-	NULL		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168105914	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.001	T	T	168105914	C	T	168105914	3	4	196	1	0	0	0	0	1	0	0	0	17437	838	29	2	8042	2	XIRP2	2	168105914	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	534	168105914	75093459	369	13641			1	91		5	5	3012	N	T_C	6.877942e-05
XIRP2	129446	genome.wustl.edu	37	chr2	168106081	168106081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacattaaatgaaacagacCacagctatgaaagtcataaa	5	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168106081C>T	ENST00000409195.1	+	9	8268	c.8179C>T	c.(8179-8181)Cac>Tac	p.H2727Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2727Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2505Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2552					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)		p.H2727N(1)		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						TGAAACAGACCACAGCTATGA	0.363																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000163092						85	82	83					2																	168106081		1841	4086	5927	XIRP2	SO:0001583	missense	0			-	HGNC	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.8179C>T	2.37:g.168106081C>T	ENSP00000386840:p.His2727Tyr	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.H2727Y	ENST00000409195.1	37	c.8179	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	3.626	-0.076445	0.07184	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02498	4.27;4.27;4.27	6.07	4.28	0.50868	.	1.304660	0.04575	N	0.393895	T	0.03871	0.0109	L	0.44542	1.39	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.44922	-0.9296	10	0.45353	T	0.12	4.1733	3.2256	0.06731	0.1452:0.5676:0.14:0.1473	.	2552;2552;2505	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2727;2727;2505;141	ENSP00000386840:H2727Y;ENSP00000295237:H2727Y;ENSP00000387255:H2505Y	ENSP00000295237:H2727Y	H	+	1	0	XIRP2	167814327	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	0.807000	0.27140	0.891000	0.36235	-0.136000	0.14681	CAC	-	NULL		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168106081	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.000	T	T	168106081	C	T	168106081	3	4	196	1	0	0	0	0	1	0	0	0	17437	594	21	2	8209	2	XIRP2	2	168106081	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	167	168106081	75093292	370	13642			1	91		5	5	3012	N	T_C	6.877942e-05
LRP2	4036	genome.wustl.edu	37	chr2	170050305	170050305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctcgtcactcatatcCccacagtcattatcaccgtc	3	16	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:170050305C>T	ENST00000263816.3	-	47	9081	c.8796G>A	c.(8794-8796)ggG>ggA	p.G2932G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2932	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACTCATATCCCCACAGTCAT	0.478																																																	0								ENSG00000081479						257	222	234					2																	170050305		2203	4300	6503	LRP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8796G>A	2.37:g.170050305C>T		Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84	O00711|Q16215	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2932	ENST00000263816.3	37	c.8796	CCDS2232.1	2																																																																																			-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-		170050305	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	SNP	0.998	T	T	170050305	C	T	170050305	2	4	196	1	0	0	0	0	0	0	0	1	8958	610	22	2		2	LRP2	2	170050305	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1944224	170050305	73149068	371	13643											
FASTKD1	79675	genome.wustl.edu	37	chr2	170403114	170403114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtaaaacggcttcaaTtcgggatatccccacttcgt	9	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:170403114T>C	ENST00000453153.2	-	8	1661	c.1315A>G	c.(1315-1317)Att>Gtt	p.I439V	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I439V	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	439					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACGGCTTCAATTCGGGATATC	0.408																																																	0								ENSG00000138399						66	69	68					2																	170403114		2203	4300	6503	FASTKD1	SO:0001583	missense	0			-	HGNC	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1315A>G	2.37:g.170403114T>C	ENSP00000400513:p.Ile439Val	Somatic	0	61	0		0.52429534266604	15	37.5	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	43	45.57	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP							pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.I439V	ENST00000453153.2	37	c.1315	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	T	3.932	-0.015898	0.07681	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.17370	2.28;2.31	4.44	0.821	0.18799	.	0.458728	0.24256	N	0.040139	T	0.10078	0.0247	L	0.36672	1.1	0.20975	N	0.999813	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.39961	-0.9588	10	0.07175	T	0.84	-18.6467	8.013	0.30363	0.0:0.3657:0.0:0.6343	.	439;439	Q53R41-2;Q53R41	.;FAKD1_HUMAN	V	439	ENSP00000400513:I439V;ENSP00000403229:I439V	ENSP00000400513:I439V	I	-	1	0	FASTKD1	170111360	0.601000	0.26907	0.370000	0.25965	0.938000	0.57974	1.426000	0.34870	0.326000	0.23384	0.460000	0.39030	ATT	-	NULL		0.408	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	protein_coding	OTTHUMT00000337788.2	T	NM_024622	-		170403114	-1	no_errors	ENST00000453153	ensembl	human	known	74_37	missense	SNP	0.586	C	C	170403114	T	C	170403114	3	2	196	1	0	0	0	0	1	0	0	0	5687	1493	52	5	1260	5	FASTKD1	2	170403114	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	352809	170403114	72796259	372	13644											
MYO3B	140469	genome.wustl.edu	37	chr2	171319908	171319908	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaggtgatacggcatccgGaagaaaccaccaacatgaag	12	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:171319908G>T	ENST00000408978.4	+	24	2904	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000334231.6_Nonsense_Mutation_p.E930*|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.E921*	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	921	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACGGCATCCGGAAGAAACCAC	0.483																																																	0								ENSG00000071909						106	108	108					2																	171319908		1952	4127	6079	MYO3B	SO:0001587	stop_gained	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2761G>T	2.37:g.171319908G>T	ENSP00000386213:p.Glu921*	Somatic	0	98	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	59	30.59	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.E930*	ENST00000408978.4	37	c.2788	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.749676	0.98939	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.19	5.19	0.71726	.	0.156487	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.7156	0.91673	0.0:0.0:1.0:0.0	.	.	.	.	X	921;921;920;930;930	.	ENSP00000314213:E920X	E	+	1	0	MYO3B	171028154	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	5.583000	0.67484	2.438000	0.82558	0.561000	0.74099	GAA	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.483	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	G		-		171319908	1	no_errors	ENST00000334231	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	171319908	G	T	171319908	4	4	196	1	0	0	0	0	0	1	0	0	10079	1175	41	3	2855	3	MYO3B	2	171319908	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	916794	171319908	71879465	373	13645											
TLK1	9874	genome.wustl.edu	37	chr2	171939308	171939308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgattctttgtcacTtaaagatcccaagcttccaa	4	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:171939308T>C	ENST00000431350.2	-	3	717	c.313A>G	c.(313-315)Agt>Ggt	p.S105G	TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000360843.3_Missense_Mutation_p.S105G|TLK1_ENST00000442919.2_Missense_Mutation_p.S57G|TLK1_ENST00000521943.1_Missense_Mutation_p.S57G			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	105					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTTGTCACTTAAAGATCCC	0.289																																																	0								ENSG00000198586						98	108	105					2																	171939308		2202	4296	6498	TLK1	SO:0001583	missense	0			-	HGNC	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.313A>G	2.37:g.171939308T>C	ENSP00000411099:p.Ser105Gly	Somatic	0	115	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	52	50.48	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S105G	ENST00000431350.2	37	c.313	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243914	0.79912	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.989	D	0.93621	0.6948	10	0.87932	D	0	.	13.1066	0.59252	0.0:0.0:0.0:1.0	.	105;105	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	G	57;105;105;57	ENSP00000402165:S57G;ENSP00000411099:S105G;ENSP00000354089:S105G;ENSP00000428113:S57G	ENSP00000352810:S105G	S	-	1	0	TLK1	171647554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.103000	0.71492	2.146000	0.66826	0.482000	0.46254	AGT	-	NULL		0.289	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	protein_coding	OTTHUMT00000255314.1	T	NM_012290	-		171939308	-1	no_errors	ENST00000431350	ensembl	human	known	74_37	missense	SNP	1.000	C	C	171939308	T	C	171939308	3	2	196	1	0	0	0	0	1	0	0	0	15950	1609	56	5	2109	5	TLK1	2	171939308	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	619400	171939308	71260065	374	13646											
CDCA7	83879	genome.wustl.edu	37	chr2	174223548	174223548	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgtgacagctttgcttctGataattttgcaaacacggta	9	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:174223548G>A	ENST00000347703.3	+	2	274	c.130G>A	c.(130-132)Gat>Aat	p.D44N	CDCA7_ENST00000410101.3_Missense_Mutation_p.D44N|CDCA7_ENST00000392567.2_Missense_Mutation_p.D44N|CDCA7_ENST00000306721.3_Missense_Mutation_p.D44N|CDCA7_ENST00000410019.3_Intron|AC092573.2_ENST00000437243.1_RNA	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	44					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTTGCTTCTGATAATTTTGC	0.398																																																	0								ENSG00000144354						90	91	90					2																	174223548		2203	4300	6503	CDCA7	SO:0001583	missense	0			-	HGNC	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.130G>A	2.37:g.174223548G>A	ENSP00000272789:p.Asp44Asn	Somatic	0	51	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	44	33.33	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP							pfam_Znf-4CXXC_R1	p.D44N	ENST00000347703.3	37	c.130	CCDS2253.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350197	0.82132	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101	T;T;T;T	0.58506	0.52;0.43;0.68;0.33	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	L	0.36672	1.1	0.44643	D	0.997627	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	T	0.70547	-0.4842	10	0.59425	D	0.04	-25.2448	19.9981	0.97395	0.0:0.0:1.0:0.0	.	44;44;44	B4DV66;Q9BWT1;Q9BWT1-2	.;CDCA7_HUMAN;.	N	44	ENSP00000272789:D44N;ENSP00000376348:D44N;ENSP00000306968:D44N;ENSP00000386656:D44N	ENSP00000306968:D44N	D	+	1	0	CDCA7	173931794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.967000	0.76079	2.729000	0.93468	0.655000	0.94253	GAT	-	NULL		0.398	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	protein_coding	OTTHUMT00000255400.1	G	NM_031942	-		174223548	1	no_errors	ENST00000306721	ensembl	human	known	74_37	missense	SNP	1.000	A	A	174223548	G	A	174223548	3	1	196	1	0	0	0	0	1	0	0	0	3092	1290	45	2	136	2	CDCA7	2	174223548	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2284240	174223548	68975825	375	13647											
HOXD1	3231	genome.wustl.edu	37	chr2	177054551	177054551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcaaactcgccgagtAtggggccgctagcccctcca	12	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:177054551A>G	ENST00000331462.4	+	2	891	c.668A>G	c.(667-669)tAt>tGt	p.Y223C	HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000413969.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	223					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CTCGCCGAGTATGGGGCCGCT	0.527																																																	0								ENSG00000128645						69	80	76					2																	177054551		2203	4300	6503	HOXD1	SO:0001583	missense	0			-	HGNC		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"Homeoboxes / ANTP class : HOXL subclass"	5132	protein-coding gene	gene with protein product		142987	"homeo box D1"	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.668A>G	2.37:g.177054551A>G	ENSP00000328598:p.Tyr223Cys	Somatic	0	51	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00	B2RAB4	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Y223C	ENST00000331462.4	37	c.668	CCDS2271.1	2	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950786	0.34471	.	.	ENSG00000128645	ENST00000331462	D	0.91068	-2.78	5.45	-1.77	0.07982	Homeodomain-related (1);Homeodomain-like (1);	0.164535	0.29126	N	0.013066	D	0.90508	0.7026	M	0.79475	2.455	0.45015	D	0.99803	D;B	0.64830	0.994;0.129	P;B	0.52710	0.707;0.103	D	0.86784	0.1981	10	0.54805	T	0.06	.	6.4883	0.22101	0.4704:0.0:0.0657:0.4639	.	223;223	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	C	223	ENSP00000328598:Y223C	ENSP00000328598:Y223C	Y	+	2	0	HOXD1	176762797	0.009000	0.17119	0.191000	0.23289	0.019000	0.09904	0.279000	0.18771	-0.204000	0.10235	-0.333000	0.08304	TAT	-	superfamily_Homeodomain-like		0.527	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD1	protein_coding	OTTHUMT00000255693.2	A		-		177054551	1	no_errors	ENST00000331462	ensembl	human	known	74_37	missense	SNP	0.993	G	G	177054551	A	G	177054551	3	3	196	1	0	0	0	0	1	0	0	0	7320	449	16	5	674	5	HOXD1	2	177054551	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2831003	177054551	66144822	376	13648											
TTN	7273	genome.wustl.edu	37	chr2	179452029	179452029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgcctcacgtttctcCacgatataatgtgtcacttg	7	12	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179452029C>T	ENST00000591111.1	-	257	59210	c.58986G>A	c.(58984-58986)gtG>gtA	p.V19662V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V18735V|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.V21303V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V12430V|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.V12363V|TTN_ENST00000460472.2_Silent_p.V12238V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19662	Fibronectin type-III 42. {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)			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)			CACGTTTCTCCACGATATAAT	0.453																																																	0								ENSG00000155657						93	88	90					2																	179452029		1932	4137	6069	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.58986G>A	2.37:g.179452029C>T		Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V18735	ENST00000591111.1	37	c.56205		2																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179452029	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	T	T	179452029	C	T	179452029	2	4	196	1	0	0	0	0	0	0	0	1	16742	581	21	2		2	TTN	2	179452029	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2397478	179452029	63747344	377	13649											
TTN	7273	genome.wustl.edu	37	chr2	179463272	179463272	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcttctttatattcaacGatgtatccagttactttgga	5	9	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179463272G>A	ENST00000591111.1	-	242	52373	c.52149C>T	c.(52147-52149)atC>atT	p.I17383I	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.I16456I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.I19024I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.I10151I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I10084I|TTN_ENST00000460472.2_Silent_p.I9959I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17383	Fibronectin type-III 26. {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)			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)			TATATTCAACGATGTATCCAG	0.378																																																	0								ENSG00000155657						95	90	91					2																	179463272		1828	4089	5917	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.52149C>T	2.37:g.179463272G>A		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I16456	ENST00000591111.1	37	c.49368		2																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179463272	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.258	A	A	179463272	G	A	179463272	2	1	196	1	0	0	0	0	0	0	0	1	16742	1048	37	1		1	TTN	2	179463272	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	11243	179463272	63736101	378	13650											
TTN	7273	genome.wustl.edu	37	chr2	179466063	179466063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccaaaacggttttctgctCgcacacggaagaaatattgc	8	10	1	1	rs202126861		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179466063C>T	ENST00000591111.1	-	237	50962	c.50738G>A	c.(50737-50739)cGa>cAa	p.R16913Q	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15986Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18554Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9681Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9614Q|TTN_ENST00000460472.2_Missense_Mutation_p.R9489Q|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16913	Fibronectin type-III 22. {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)			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)			GTTTTCTGCTCGCACACGGAA	0.428													C|||	1	0.000199681	0	0	5008	,	,		18020	0.001		0	False		,,,				2504	0																0								ENSG00000155657	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3799		0,1,1899	99	94	96		28466,47957,28841,29042	5.8	1	2		96	0,8236		0,0,4118	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,6017	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9489/26927,15986/33424,9614/27052,9681/27119	179466063	1,12035	1900	4118	6018	TTN	SO:0001583	missense	0			-	HGNC	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.50738G>A	2.37:g.179466063C>T	ENSP00000465570:p.Arg16913Gln	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15986Q	ENST00000591111.1	37	c.47957		2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945576	0.53079	2.63E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67841	0.2936	M	0.62723	1.935	0.39293	D	0.964772	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.71642	-0.4531	9	0.87932	D	0	.	15.6205	0.76802	0.0:0.8632:0.1368:0.0	.	9489;9614;9681;16913	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15986;9489;9681;9614;9489	ENSP00000343764:R15986Q;ENSP00000434586:R9489Q;ENSP00000340554:R9681Q;ENSP00000352154:R9614Q	ENSP00000340554:R9681Q	R	-	2	0	TTN	179174308	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.953000	0.56699	2.770000	0.95276	0.563000	0.77884	CGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	rs202126861		179466063	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179466063	C	T	179466063	3	4	196	1	0	0	0	0	1	0	0	0	16742	884	31	1	52336	1	TTN	2	179466063	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2791	179466063	63733310	379	13651											
TTN	7273	genome.wustl.edu	37	chr2	179498051	179498051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttccacttttattagtcGagctgaaatgatacagtttt	6	7	0	2	rs376799532		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179498051G>A	ENST00000591111.1	-	183	38250	c.38026C>T	c.(38026-38028)Cga>Tga	p.R12676*	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R11749*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R14317*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R5444*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R5377*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R5252*|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12676					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)			TTTATTAGTCGAGCTGAAATG	0.393																																																	0								ENSG00000155657						110	110	110					2																	179498051		1848	4093	5941	TTN	SO:0001587	stop_gained	0			-	HGNC	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.38026C>T	2.37:g.179498051G>A	ENSP00000465570:p.Arg12676*	Somatic	0	70	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	78	17.02	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	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R11749*	ENST00000591111.1	37	c.35245		2	.	.	.	.	.	.	.	.	.	.	G	57	28.954122	0.99974	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	11749;5252;5444;5377;5252	.	ENSP00000340554:R5444X	R	-	1	2	TTN	179206296	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	CGA	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179498051	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	179498051	G	A	179498051	4	1	196	1	0	0	0	0	0	1	0	0	16742	1066	37	1	65264	1	TTN	2	179498051	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	31988	179498051	63701322	380	13652											
TTN	7273	genome.wustl.edu	37	chr2	179584942	179584942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtaactcaacagcatcCccaataagggttgaggtgtc	10	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179584942C>T	ENST00000591111.1	-	79	22700	c.22476G>A	c.(22474-22476)ggG>ggA	p.G7492G	TTN_ENST00000342992.6_Silent_p.G6565G|TTN_ENST00000589042.1_Silent_p.G7809G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13048	Ig-like 57.				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)			CAACAGCATCCCCAATAAGGG	0.443																																																	0								ENSG00000155657						101	93	96					2																	179584942		1861	4104	5965	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.22476G>A	2.37:g.179584942C>T		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G6565	ENST00000591111.1	37	c.19695		2																																																																																			-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179584942	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.849	T	T	179584942	C	T	179584942	2	4	196	1	0	0	0	0	0	0	0	1	16742	610	22	2		2	TTN	2	179584942	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	86891	179584942	63614431	381	13653											
TTN	7273	genome.wustl.edu	37	chr2	179606002	179606002	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagccattagggttatgaatGatagtgtaataaacactggt	11	4	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179606002G>A	ENST00000591111.1	-	46	11231	c.11007C>T	c.(11005-11007)atC>atT	p.I3669I	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Silent_p.I3986I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.I3815I|TTN_ENST00000359218.5_Silent_p.I3748I|TTN_ENST00000460472.2_Silent_p.I3623I|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13975	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)			GGTTATGAATGATAGTGTAAT	0.438																																																	0								ENSG00000155657						95	93	94					2																	179606002		1904	4128	6032	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.11007C>T	2.37:g.179606002G>A		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	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							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I3815	ENST00000591111.1	37	c.11445		2																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179606002	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	silent	SNP	0.985	A	A	179606002	G	A	179606002	2	1	196	1	0	0	0	0	0	0	0	1	16742	1280	45	2		2	TTN	2	179606002	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	21060	179606002	63593371	382	13654											
TTN	7273	genome.wustl.edu	37	chr2	179606139	179606139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggttttaactccttaaGgaagtgaggaggacaaggac	12	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179606139G>A	ENST00000591111.1	-	46	11094	c.10870C>T	c.(10870-10872)Ctt>Ttt	p.L3624F	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L3941F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3770F|TTN_ENST00000359218.5_Missense_Mutation_p.L3703F|TTN_ENST00000460472.2_Missense_Mutation_p.L3578F|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13930	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)			AACTCCTTAAGGAAGTGAGGA	0.458																																																	0								ENSG00000155657						160	152	154					2																	179606139		1907	4134	6041	TTN	SO:0001583	missense	0			-	HGNC	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.10870C>T	2.37:g.179606139G>A	ENSP00000465570:p.Leu3624Phe	Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	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							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L3770F	ENST00000591111.1	37	c.11308		2	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582430	0.13749	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.46819	0.86;0.86;0.86	5.87	-0.0795	0.13710	.	.	.	.	.	T	0.40791	0.1131	M	0.71036	2.16	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.47156	-0.9139	9	0.87932	D	0	.	2.0472	0.03563	0.1435:0.3359:0.2707:0.2499	.	3578;3703;3770	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3578;3770;3703;3578	ENSP00000434586:L3578F;ENSP00000340554:L3770F;ENSP00000352154:L3703F	ENSP00000340554:L3770F	L	-	1	0	TTN	179314384	0.692000	0.27719	0.995000	0.50966	0.351000	0.29236	0.047000	0.14056	0.144000	0.18951	-0.119000	0.15052	CTT	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179606139	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	SNP	0.233	A	A	179606139	G	A	179606139	3	1	196	1	0	0	0	0	1	0	0	0	16742	1000	35	2	92968	2	TTN	2	179606139	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	137	179606139	63593234	383	13655											
TTN	7273	genome.wustl.edu	37	chr2	179615141	179615141	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttaatattgaatagttttCcaacgaatgaatgataaagt	7	3	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179615141C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E3996K			Q8WZ42	TITIN_HUMAN	titin						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)			GAATAGTTTTCCAACGAATGA	0.333																																																	0								ENSG00000155657						120	119	119					2																	179615141		2203	4299	6502	TTN	SO:0001627	intron_variant	0			-	HGNC	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.10360+2709G>A	2.37:g.179615141C>T		Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	41.94	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							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E3996K	ENST00000591111.1	37	c.11986		2	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908949	0.33721	.	.	ENSG00000155657	ENST00000360870	T	0.42131	0.98	5.55	4.67	0.58626	.	.	.	.	.	T	0.38427	0.1040	L	0.56340	1.77	0.58432	D	0.999996	B	0.13145	0.007	B	0.09377	0.004	T	0.18461	-1.0336	9	0.19590	T	0.45	.	15.0877	0.72167	0.0:0.9312:0.0:0.0688	.	3996	Q8WZ42-6	.	K	3996	ENSP00000354117:E3996K	ENSP00000354117:E3996K	E	-	1	0	TTN	179323386	0.590000	0.26815	0.804000	0.32291	0.184000	0.23303	2.366000	0.44204	1.469000	0.48083	0.655000	0.94253	GAA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179615141	-1	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	SNP	0.496	T	T	179615141	C	T	179615141	1	4	196	0	1	0	0	0	0	0	0	0	16742	864	30	2		2	TTN	2	179615141	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9002	179615141	63584232	384	13656											
TTN	7273	genome.wustl.edu	37	chr2	179637996	179637996	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttccttgtccttaaaattCcacaggacatcaattccaga	4	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179637996C>T	ENST00000591111.1	-	33	7919	c.7695G>A	c.(7693-7695)tgG>tgA	p.W2565*	TTN_ENST00000342992.6_Nonsense_Mutation_p.W2565*|TTN_ENST00000589042.1_Nonsense_Mutation_p.W2565*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W2519*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W2519*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W2519*|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.W2565*			Q8WZ42	TITIN_HUMAN	titin	12888					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)			CCTTAAAATTCCACAGGACAT	0.343																																																	0								ENSG00000155657						42	44	44					2																	179637996		2203	4300	6503	TTN	SO:0001587	stop_gained	0			-	HGNC	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.7695G>A	2.37:g.179637996C>T	ENSP00000465570:p.Trp2565*	Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	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	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.W2565*	ENST00000591111.1	37	c.7695		2	.	.	.	.	.	.	.	.	.	.	C	50	16.475385	0.99864	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	.	.	.	X	2565;2519;2519;2519;2519;2565	.	ENSP00000340554:W2519X	W	-	3	0	TTN	179346241	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.685000	0.91497	0.650000	0.86243	TGG	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179637996	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	179637996	C	T	179637996	4	4	196	1	0	0	0	0	0	1	0	0	16742	856	30	2	103613	2	TTN	2	179637996	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	22855	179637996	63561377	385	13657											
TTN	7273	genome.wustl.edu	37	chr2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A													cgatgacaaagctgtattctCcctggtcctccttggttaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179638990C>A	ENST00000591111.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				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)			GCTGTATTCTCCCTGGTCCTC	0.438																																																	0								ENSG00000155657						152	139	143					2																	179638990		2203	4300	6503	TTN	SO:0001583	missense	0			-	HGNC	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.7001G>T	2.37:g.179638990C>A	ENSP00000465570:p.Gly2334Val	Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G2334V	ENST00000591111.1	37	c.7001		2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	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	D	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	TTN	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179638990	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179638990	C	A	179638990	3	1	196	1	0	0	0	0	1	0	0	0	16742	855	30	3	104319	3	TTN	2	179638990	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	994	179638990	63560383	386	13658	231	2									
TTN	7273	genome.wustl.edu	37	chr2	179638991	179638991	+	Missense_Mutation	SNP	C	C	T													gatgacaaagctgtattctcCctggtcctccttggttacat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179638991C>T	ENST00000591111.1	-	30	7224	c.7000G>A	c.(7000-7002)Gga>Aga	p.G2334R	TTN_ENST00000342992.6_Missense_Mutation_p.G2334R|TTN_ENST00000589042.1_Missense_Mutation_p.G2334R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288R|TTN_ENST00000359218.5_Missense_Mutation_p.G2288R|TTN_ENST00000460472.2_Missense_Mutation_p.G2288R|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2334R			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				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)			CTGTATTCTCCCTGGTCCTCC	0.433																																																	0								ENSG00000155657						153	140	144					2																	179638991		2203	4300	6503	TTN	SO:0001583	missense	0			-	HGNC	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.7000G>A	2.37:g.179638991C>T	ENSP00000465570:p.Gly2334Arg	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G2334R	ENST00000591111.1	37	c.7000		2	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850053	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90490	0.7021	M	0.89478	3.035	0.48341	D	0.999638	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	D	0.91717	0.5386	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334R;ENSP00000434586:G2288R;ENSP00000340554:G2288R;ENSP00000352154:G2288R;ENSP00000354117:G2334R	ENSP00000340554:G2288R	G	-	1	0	TTN	179347236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179638991	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179638991	C	T	179638991	3	4	196	1	0	0	0	0	1	0	0	0	16742	632	22	2	104320	2	TTN	2	179638991	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	179638991	63560382	387	13659	231	2									
SESTD1	91404	genome.wustl.edu	37	chr2	179977557	179977557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatagcttcaggctcttctgGacagtcctgcaaaatctgca	8	11	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179977557G>A	ENST00000428443.3	-	17	2171	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	619							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCTCTTCTGGACAGTCCTGC	0.398																																																	0								ENSG00000187231						95	98	97					2																	179977557		2203	4300	6503	SESTD1	SO:0001583	missense	0			-	HGNC	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1855C>T	2.37:g.179977557G>A	ENSP00000415332:p.Pro619Ser	Somatic	0	34	0		0.52429534266604	16	36	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP							superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.P619S	ENST00000428443.3	37	c.1855	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993446	0.74703	.	.	ENSG00000187231	ENST00000428443	T	0.04706	3.57	5.34	5.34	0.76211	.	0.240454	0.41938	D	0.000786	T	0.10809	0.0264	N	0.14661	0.345	0.58432	D	0.999994	D;D	0.89917	0.967;1.0	P;D	0.80764	0.901;0.994	T	0.49634	-0.8919	9	.	.	.	-11.8595	19.0384	0.92987	0.0:0.0:1.0:0.0	.	619;619	Q86VW0;B3KTX3	SESD1_HUMAN;.	S	619	ENSP00000415332:P619S	.	P	-	1	0	SESTD1	179685802	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.159000	0.77483	2.478000	0.83669	0.460000	0.39030	CCA	-	NULL		0.398	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	protein_coding	OTTHUMT00000335916.2	G	NM_178123	-		179977557	-1	no_errors	ENST00000428443	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179977557	G	A	179977557	3	1	196	1	0	0	0	0	1	0	0	0	14135	1174	41	2	243	2	SESTD1	2	179977557	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	338566	179977557	63221816	388	13660											
FSIP2	401024	genome.wustl.edu	37	chr2	186667357	186667357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctgagaatattgttcagGacatccttagtaacatcagt	9	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186667357G>A	ENST00000424728.1	+	17	13324	c.13324G>A	c.(13324-13326)Gac>Aac	p.D4442N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D4531N|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4442										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TATTGTTCAGGACATCCTTAG	0.378																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.13324G>A	2.37:g.186667357G>A	ENSP00000401306:p.Asp4442Asn	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.D4531N	ENST00000424728.1	37	c.13591		2	.	.	.	.	.	.	.	.	.	.	G	1.054	-0.674891	0.03378	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.48201	0.82;0.82	5.27	3.47	0.39725	.	.	.	.	.	T	0.32971	0.0847	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	7	0.28530	T	0.3	.	7.943	0.29969	0.1846:0.0:0.8154:0.0	.	.	.	.	N	4531;4442	ENSP00000344403:D4531N;ENSP00000401306:D4442N	ENSP00000344403:D4531N	D	+	1	0	FSIP2	186375602	0.531000	0.26338	0.008000	0.14137	0.209000	0.24338	0.867000	0.27968	0.792000	0.33850	0.585000	0.79938	GAC	-	NULL		0.378	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186667357	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.037	A	A	186667357	G	A	186667357	3	1	196	1	0	0	0	0	1	0	0	0	6077	1174	41	2	13657	2	FSIP2	2	186667357	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6689800	186667357	56532016	389	13661											
FSIP2	401024	genome.wustl.edu	37	chr2	186669298	186669298	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttattcgtatccccaagctGataatatcatcagaaatgtg	6	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186669298G>A	ENST00000424728.1	+	17	15265	c.15265G>A	c.(15265-15267)Gat>Aat	p.D5089N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D5178N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5089										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCCCCAAGCTGATAATATCAT	0.333																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15265G>A	2.37:g.186669298G>A	ENSP00000401306:p.Asp5089Asn	Somatic	0	20	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.D5178N	ENST00000424728.1	37	c.15532		2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207948	0.39003	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.42900	0.96;0.96	5.66	3.88	0.44766	.	.	.	.	.	T	0.32793	0.0841	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.23619	-1.0183	7	0.66056	D	0.02	.	8.8351	0.35107	0.1631:0.0:0.8369:0.0	.	.	.	.	N	5178;5089	ENSP00000344403:D5178N;ENSP00000401306:D5089N	ENSP00000344403:D5178N	D	+	1	0	FSIP2	186377543	0.997000	0.39634	0.031000	0.17742	0.013000	0.08279	3.237000	0.51344	0.762000	0.33152	-0.482000	0.04802	GAT	-	NULL		0.333	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186669298	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.058	A	A	186669298	G	A	186669298	3	1	196	1	0	0	0	0	1	0	0	0	6077	1290	45	2	15598	2	FSIP2	2	186669298	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1941	186669298	56530075	390	13662											
FSIP2	401024	genome.wustl.edu	37	chr2	186672991	186672991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaagctgtcaaaattatgGaaaaagtgatcaaaattatt	8	3	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186672991G>A	ENST00000424728.1	+	17	18958	c.18958G>A	c.(18958-18960)Gaa>Aaa	p.E6320K	FSIP2_ENST00000343098.5_Missense_Mutation_p.E6409K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6320										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAAATTATGGAAAAAGTGAT	0.328																																																	0								ENSG00000188738						35	33	34					2																	186672991		1805	4055	5860	FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18958G>A	2.37:g.186672991G>A	ENSP00000401306:p.Glu6320Lys	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	59	21.33	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.E6409K	ENST00000424728.1	37	c.19225		2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048046	0.75846	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.62105	0.05;0.06	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000034	T	0.67411	0.2890	L	0.49778	1.585	0.35353	D	0.78757	.	.	.	.	.	.	T	0.74200	-0.3742	8	0.45353	T	0.12	.	14.1271	0.65228	0.0:0.0:1.0:0.0	.	.	.	.	K	6409;6320	ENSP00000344403:E6409K;ENSP00000401306:E6320K	ENSP00000344403:E6409K	E	+	1	0	FSIP2	186381236	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.640000	0.37186	2.711000	0.92665	0.591000	0.81541	GAA	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186672991	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186672991	G	A	186672991	3	1	196	1	0	0	0	0	1	0	0	0	6077	1175	41	2	19291	2	FSIP2	2	186672991	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3693	186672991	56526382	391	13663											
FSIP2	401024	genome.wustl.edu	37	chr2	186673773	186673773	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataagtgggagaaattactcCttaggatcacctgatttaga	9	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186673773C>A	ENST00000424728.1	+	17	19740	c.19740C>A	c.(19738-19740)tcC>tcA	p.S6580S	FSIP2_ENST00000343098.5_Silent_p.S6669S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6580										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAAATTACTCCTTAGGATCAC	0.398																																																	0								ENSG00000188738						73	66	68					2																	186673773		1856	4107	5963	FSIP2	SO:0001819	synonymous_variant	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19740C>A	2.37:g.186673773C>A		Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP							NULL	p.S6669	ENST00000424728.1	37	c.20007		2																																																																																			-	NULL		0.398	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	C	NM_173651	-		186673773	1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	SNP	0.000	A	A	186673773	C	A	186673773	2	1	196	1	0	0	0	0	0	0	0	1	6077	668	24	3		3	FSIP2	2	186673773	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	782	186673773	56525600	392	13664											
MSTN	2660	genome.wustl.edu	37	chr2	190924815	190924815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcctggtcctgggaaGgttacagcaagatcatgacc	10	11	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:190924815G>A	ENST00000260950.4	-	2	852	c.720C>T	c.(718-720)acC>acT	p.T240T	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	240					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GTCCTGGGAAGGTTACAGCAA	0.348																																																	0								ENSG00000138379						133	131	132					2																	190924815		2203	4300	6503	MSTN	SO:0001819	synonymous_variant	0			-	HGNC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.720C>T	2.37:g.190924815G>A		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	A1C2J7|A1C2K0|Q6B0H2	Silent	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.T240	ENST00000260950.4	37	c.720	CCDS2303.1	2																																																																																			-	pfam_TGF-b_N		0.348	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	protein_coding	OTTHUMT00000255917.2	G	NM_005259	-		190924815	-1	no_errors	ENST00000260950	ensembl	human	known	74_37	silent	SNP	1.000	A	A	190924815	G	A	190924815	2	1	196	1	0	0	0	0	0	0	0	1	9895	987	35	2		2	MSTN	2	190924815	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4251042	190924815	52274558	393	13665											
INPP1	3628	genome.wustl.edu	37	chr2	191227390	191227390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatatttttggagaagaatCcaatgagtttactaatgact	7	4	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:191227390C>T	ENST00000322522.4	+	3	698	c.242C>T	c.(241-243)tCc>tTc	p.S81F	INPP1_ENST00000417336.1_Intron|INPP1_ENST00000392329.2_Missense_Mutation_p.S81F|INPP1_ENST00000541441.1_Missense_Mutation_p.S81F	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	81					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GGAGAAGAATCCAATGAGTTT	0.313																																					Melanoma(130;184 1743 2185 19805 38428)												0								ENSG00000151689						57	65	62					2																	191227390		2202	4292	6494	INPP1	SO:0001583	missense	0			-	HGNC		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.242C>T	2.37:g.191227390C>T	ENSP00000325423:p.Ser81Phe	Somatic	0	46	0		0.52429534266604	24	38.46	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21		Missense_Mutation	SNP							pfam_Inositol_monophosphatase	p.S81F	ENST00000322522.4	37	c.242	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744870	0.89663	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000413239;ENST00000431594;ENST00000444194;ENST00000458647;ENST00000423767;ENST00000409027	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61471	-0.7056	10	0.62326	D	0.03	-20.9495	17.7102	0.88319	0.0:1.0:0.0:0.0	.	81	P49441	INPP_HUMAN	F	81	ENSP00000376142:S81F;ENSP00000325423:S81F;ENSP00000440650:S81F;ENSP00000409786:S81F;ENSP00000404732:S81F;ENSP00000392814:S81F;ENSP00000395424:S81F;ENSP00000387079:S81F	ENSP00000325423:S81F	S	+	2	0	INPP1	190935635	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.002000	0.70693	2.787000	0.95880	0.585000	0.79938	TCC	-	pfam_Inositol_monophosphatase		0.313	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	protein_coding	OTTHUMT00000255932.2	C		-		191227390	1	no_errors	ENST00000322522	ensembl	human	known	74_37	missense	SNP	1.000	T	T	191227390	C	T	191227390	3	4	196	1	0	0	0	0	1	0	0	0	7753	855	30	2	248	2	INPP1	2	191227390	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	302575	191227390	51971983	394	13666											
STAT4	6775	genome.wustl.edu	37	chr2	191919251	191919251	+	Missense_Mutation	SNP	C	C	T													tccagcactggacttcatttCctttggttgctttgtaaaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:191919251C>T	ENST00000392320.2	-	14	1530	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	STAT4_ENST00000358470.4_Missense_Mutation_p.E406K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	406					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACTTCATTTCCTTTGGTTGC	0.338																																																	0								ENSG00000138378						99	109	105					2																	191919251		2203	4300	6503	STAT4	SO:0001583	missense	0			-	HGNC		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1216G>A	2.37:g.191919251C>T	ENSP00000376134:p.Glu406Lys	Somatic	0	94	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	80	19.80	Q96NZ6	Missense_Mutation	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E406K	ENST00000392320.2	37	c.1216	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646731	0.87958	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89552	-2.53;-2.53	5.15	5.15	0.70609	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	L	0.31752	0.955	0.80722	D	1	P;P;P	0.49185	0.92;0.92;0.92	B;B;B	0.40782	0.34;0.34;0.34	D	0.86937	0.2077	10	0.87932	D	0	-49.3516	16.4052	0.83662	0.0:1.0:0.0:0.0	.	315;406;406	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	K	406	ENSP00000351255:E406K;ENSP00000376134:E406K	ENSP00000351255:E406K	E	-	1	0	STAT4	191627496	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.190000	0.72057	2.394000	0.81467	0.313000	0.20887	GAA	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.338	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	protein_coding	OTTHUMT00000335586.1	C	NM_003151	-		191919251	-1	no_errors	ENST00000358470	ensembl	human	known	74_37	missense	SNP	1.000	T	T	191919251	C	T	191919251	3	4	196	1	0	0	0	0	1	0	0	0	15274	864	30	2	1074	2	STAT4	2	191919251	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	691861	191919251	51280122	395	13667	232	2									
STAT4	6775	genome.wustl.edu	37	chr2	191919252	191919252	+	Silent	SNP	C	C	T													ccagcactggacttcatttcCtttggttgctttgtaaaaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:191919252C>T	ENST00000392320.2	-	14	1529	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	STAT4_ENST00000358470.4_Silent_p.K405K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	405					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACTTCATTTCCTTTGGTTGCT	0.338																																																	0								ENSG00000138378						99	108	105					2																	191919252		2203	4300	6503	STAT4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1215G>A	2.37:g.191919252C>T		Somatic	0	94	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	78	21.21	Q96NZ6	Silent	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.K405	ENST00000392320.2	37	c.1215	CCDS2310.1	2																																																																																			-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.338	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	protein_coding	OTTHUMT00000335586.1	C	NM_003151	-		191919252	-1	no_errors	ENST00000358470	ensembl	human	known	74_37	silent	SNP	1.000	T	T	191919252	C	T	191919252	2	4	196	1	0	0	0	0	0	0	0	1	15274	680	24	2		2	STAT4	2	191919252	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	191919252	51280121	396	13668	232	2									
HECW2	57520	genome.wustl.edu	37	chr2	197122601	197122601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcaccaatcctggagtcCcttcagttcggataaattgg	11	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:197122601C>T	ENST00000260983.3	-	18	3547	c.3365G>A	c.(3364-3366)gGg>gAg	p.G1122E	AC020571.3_ENST00000430904.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.G766E|AC020571.3_ENST00000433933.1_RNA|AC020571.3_ENST00000605907.1_RNA	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1122					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCTGGAGTCCCTTCAGTTCG	0.423																																																	0								ENSG00000138411						123	104	110					2																	197122601		2203	4300	6503	HECW2	SO:0001583	missense	0			-	HGNC	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3365G>A	2.37:g.197122601C>T	ENSP00000260983:p.Gly1122Glu	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.G1122E	ENST00000260983.3	37	c.3365	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.064455	0.93898	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85484	-1.99;-1.99	5.55	5.55	0.83447	.	0.113552	0.64402	D	0.000011	D	0.92014	0.7470	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92299	0.5848	10	0.87932	D	0	.	16.5241	0.84326	0.0:1.0:0.0:0.0	.	1122	Q9P2P5	HECW2_HUMAN	E	766;1122	ENSP00000386775:G766E;ENSP00000260983:G1122E	ENSP00000260983:G1122E	G	-	2	0	HECW2	196830846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.857000	0.75455	2.890000	0.99128	0.585000	0.79938	GGG	-	NULL		0.423	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	protein_coding	OTTHUMT00000335199.3	C	NM_020760	-		197122601	-1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	197122601	C	T	197122601	3	4	196	1	0	0	0	0	1	0	0	0	7045	623	22	2	1401	2	HECW2	2	197122601	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5203349	197122601	46076772	397	13669											
HECW2	57520	genome.wustl.edu	37	chr2	197183519	197183519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcagtgcacacggattCctgcgacccttcggcagggc	12	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:197183519C>T	ENST00000260983.3	-	9	2277	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	HECW2_ENST00000409111.1_Missense_Mutation_p.E343K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	699					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACACGGATTCCTGCGACCCT	0.612																																																	0								ENSG00000138411						34	36	36					2																	197183519		2203	4300	6503	HECW2	SO:0001583	missense	0			-	HGNC	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2095G>A	2.37:g.197183519C>T	ENSP00000260983:p.Glu699Lys	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E699K	ENST00000260983.3	37	c.2095	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576988	0.28092	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.29917	1.56;1.55	4.82	4.82	0.62117	.	2.823480	0.01157	N	0.006545	T	0.26268	0.0641	N	0.14661	0.345	0.29249	N	0.872136	B	0.14438	0.01	B	0.14023	0.01	T	0.11131	-1.0600	10	0.45353	T	0.12	.	13.1088	0.59261	0.1601:0.8399:0.0:0.0	.	699	Q9P2P5	HECW2_HUMAN	K	343;699	ENSP00000386775:E343K;ENSP00000260983:E699K	ENSP00000260983:E699K	E	-	1	0	HECW2	196891764	1.000000	0.71417	0.614000	0.29051	0.064000	0.16182	5.777000	0.68931	2.509000	0.84616	0.561000	0.74099	GAA	-	NULL		0.612	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	protein_coding	OTTHUMT00000335199.3	C	NM_020760	-		197183519	-1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	SNP	0.999	T	T	197183519	C	T	197183519	3	4	196	1	0	0	0	0	1	0	0	0	7045	864	30	2	2707	2	HECW2	2	197183519	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	60918	197183519	46015854	398	13670											
AOX1	316	genome.wustl.edu	37	chr2	201515794	201515794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggagagaatgtatggCcatgtcttcctactccttga	11	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:201515794C>T	ENST00000374700.2	+	26	3186	c.2945C>T	c.(2944-2946)gCc>gTc	p.A982V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	982					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGTATGGCCATGTCTTCC	0.423																																																	0								ENSG00000138356						165	154	158					2																	201515794		2203	4300	6503	AOX1	SO:0001583	missense	0			-	HGNC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2945C>T	2.37:g.201515794C>T	ENSP00000363832:p.Ala982Val	Somatic	0	82	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	50	46.24	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP							pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.A982V	ENST00000374700.2	37	c.2945	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	11.00	1.508880	0.27036	.	.	ENSG00000138356	ENST00000374700	T	0.45668	0.89	5.41	4.47	0.54385	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.999763	0.08090	N	0.999428	T	0.34454	0.0898	L	0.28400	0.85	0.26942	N	0.966235	B	0.10296	0.003	B	0.15870	0.014	T	0.05971	-1.0853	10	0.44086	T	0.13	-20.6211	11.3852	0.49780	0.3442:0.6558:0.0:0.0	.	982	Q06278	ADO_HUMAN	V	982	ENSP00000363832:A982V	ENSP00000363832:A982V	A	+	2	0	AOX1	201224039	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	1.393000	0.34497	2.826000	0.97356	0.655000	0.94253	GCC	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	protein_coding	OTTHUMT00000335844.1	C	NM_001159	-		201515794	1	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201515794	C	T	201515794	3	4	196	1	0	0	0	0	1	0	0	0	729	739	26	2	3047	2	AOX1	2	201515794	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4332275	201515794	41683579	399	13671											
BMPR2	659	genome.wustl.edu	37	chr2	203384915	203384915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatcttcacacagaattaCcacgaggaggtaagatagtc	8	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:203384915C>T	ENST00000374580.4	+	7	1497	c.958C>T	c.(958-960)Cca>Tca	p.P320S	BMPR2_ENST00000374574.2_Missense_Mutation_p.P320S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CACAGAATTACCACGAGGAGG	0.358																																																	0								ENSG00000204217						81	78	79					2																	203384915		2203	4300	6503	BMPR2	SO:0001583	missense	0			-	HGNC	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.958C>T	2.37:g.203384915C>T	ENSP00000363708:p.Pro320Ser	Somatic	0	54	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P320S	ENST00000374580.4	37	c.958	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272828	0.40194	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93019	-3.15;-3.15	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232550	0.47455	D	0.000235	D	0.91570	0.7337	L	0.60067	1.865	0.46874	D	0.999233	B;B	0.28605	0.217;0.081	B;B	0.28232	0.047;0.087	D	0.88732	0.3237	10	0.21014	T	0.42	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	320;320	Q13161;Q13873	.;BMPR2_HUMAN	S	320	ENSP00000363708:P320S;ENSP00000363702:P320S	ENSP00000363702:P320S	P	+	1	0	BMPR2	203093160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.496000	0.66918	2.670000	0.90874	0.650000	0.86243	CCA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.358	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	protein_coding	OTTHUMT00000257743.1	C	NM_001204	-		203384915	1	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	SNP	1.000	T	T	203384915	C	T	203384915	3	4	196	1	0	0	0	0	1	0	0	0	1471	507	18	2	984	2	BMPR2	2	203384915	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1869121	203384915	39814458	400	13672											
INO80D	54891	genome.wustl.edu	37	chr2	206921091	206921091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctactggatggcaggagGggcagaggcctcttgtgaga	17	9	1	2	rs374973871		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:206921091G>A	ENST00000403263.1	-	4	1199	c.795C>T	c.(793-795)ccC>ccT	p.P265P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	265					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ATGGCAGGAGGGGCAGAGGCC	0.572																																																	0								ENSG00000114933	G		0,4162		0,0,2081	104	122	116		795	1.4	1	2		116	3,8379		0,3,4188	no	coding-synonymous	INO80D	NM_017759.4		0,3,6269	AA,AG,GG		0.0358,0.0,0.0239		265/1028	206921091	3,12541	2081	4191	6272	INO80D	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.795C>T	2.37:g.206921091G>A		Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	51	26.09	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP							NULL	p.P265	ENST00000403263.1	37	c.795	CCDS46500.1	2																																																																																			-	NULL		0.572	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	protein_coding	OTTHUMT00000336459.1	G	NM_017759	-		206921091	-1	no_errors	ENST00000403263	ensembl	human	known	74_37	silent	SNP	0.995	A	A	206921091	G	A	206921091	2	1	196	1	0	0	0	0	0	0	0	1	7751	1219	43	2		2	INO80D	2	206921091	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3536176	206921091	36278282	401	13673											
MDH1B	130752	genome.wustl.edu	37	chr2	207621643	207621643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatccagacctgcaagGggttgatgcaagttttcagg	14	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:207621643G>A	ENST00000374412.3	-	4	667	c.392C>T	c.(391-393)cCc>cTc	p.P131L	MDH1B_ENST00000454776.2_Missense_Mutation_p.P131L|MDH1B_ENST00000449792.1_Missense_Mutation_p.P33L|MDH1B_ENST00000392214.2_Missense_Mutation_p.P131L	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	131					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)			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)		GACCTGCAAGGGGTTGATGCA	0.428																																					Pancreas(76;29 1355 28675 37177 51207)												0								ENSG00000138400						114	103	107					2																	207621643		2203	4300	6503	MDH1B	SO:0001583	missense	0			-	HGNC		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.392C>T	2.37:g.207621643G>A	ENSP00000363533:p.Pro131Leu	Somatic	0	67	0		0.52429534266604	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP							pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.P131L	ENST00000374412.3	37	c.392	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547855	0.45383	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.46063	0.88;0.88;0.88;1.26	6.08	6.08	0.98989	NAD(P)-binding domain (1);	0.053759	0.85682	D	0.000000	T	0.54143	0.1840	M	0.85041	2.73	0.58432	D	0.999999	P;B	0.36683	0.565;0.43	B;B	0.35971	0.215;0.14	T	0.60870	-0.7177	10	0.87932	D	0	-12.1609	20.6634	0.99662	0.0:0.0:1.0:0.0	.	131;131	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	L	131;33;131;131	ENSP00000363533:P131L;ENSP00000416577:P33L;ENSP00000389916:P131L;ENSP00000376049:P131L	ENSP00000363533:P131L	P	-	2	0	MDH1B	207329888	1.000000	0.71417	0.803000	0.32268	0.018000	0.09664	6.337000	0.72958	2.894000	0.99253	0.655000	0.94253	CCC	-	NULL		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	protein_coding	OTTHUMT00000256429.2	G	NM_001039845	-		207621643	-1	no_errors	ENST00000374412	ensembl	human	known	74_37	missense	SNP	0.976	A	A	207621643	G	A	207621643	3	1	196	1	0	0	0	0	1	0	0	0	9411	1232	43	2	1200	2	MDH1B	2	207621643	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	700552	207621643	35577730	402	13674											
MAP2	4133	genome.wustl.edu	37	chr2	210574734	210574734	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcaccccaccaagttattCttcacgcacaccaggcactc	6	17	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:210574734C>T	ENST00000360351.4	+	12	5335	c.4829C>T	c.(4828-4830)tCt>tTt	p.S1610F	MAP2_ENST00000392194.1_Missense_Mutation_p.S254F|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.S311F|MAP2_ENST00000447185.1_Missense_Mutation_p.S1606F|MAP2_ENST00000361559.4_Missense_Mutation_p.S254F	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1610					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)	CCAAGTTATTCTTCACGCACA	0.577																																					Pancreas(27;423 979 28787 29963)												0								ENSG00000078018						133	120	124					2																	210574734		2203	4300	6503	MAP2	SO:0001583	missense	0			-	HGNC		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.4829C>T	2.37:g.210574734C>T	ENSP00000353508:p.Ser1610Phe	Somatic	0	74	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	60	25.00	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP							pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.S1610F	ENST00000360351.4	37	c.4829	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409288	0.62399	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.26660	1.72;3.02;2.08;2.08;3.02	5.44	5.44	0.79542	.	0.104091	0.43416	D	0.000563	T	0.42268	0.1195	L	0.29908	0.895	0.80722	D	1	D;P;P;D;D	0.76494	0.999;0.937;0.93;0.999;0.998	D;P;P;D;D	0.76071	0.987;0.735;0.641;0.981;0.969	T	0.28586	-1.0039	10	0.62326	D	0.03	-14.9791	19.6252	0.95676	0.0:1.0:0.0:0.0	.	1606;254;255;1610;311	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	F	311;1610;254;254;1606	ENSP00000199940:S311F;ENSP00000353508:S1610F;ENSP00000355290:S254F;ENSP00000376032:S254F;ENSP00000392164:S1606F	ENSP00000199940:S311F	S	+	2	0	MAP2	210282979	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	7.772000	0.85439	2.697000	0.92050	0.655000	0.94253	TCT	-	NULL		0.577	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	C	NM_001039538	-		210574734	1	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	SNP	1.000	T	T	210574734	C	T	210574734	3	4	196	1	0	0	0	0	1	0	0	0	9237	913	32	2	5038	2	MAP2	2	210574734	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2953091	210574734	32624639	403	13675											
IKZF2	22807	genome.wustl.edu	37	chr2	213878518	213878518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttgtaatgcttacccaCaaacttttgtggagtggagc	10	8	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:213878518C>T	ENST00000434687.1	-	8	1162	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	IKZF2_ENST00000451136.2_Missense_Mutation_p.V213M|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.V291M|IKZF2_ENST00000374319.4_Missense_Mutation_p.V259M|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Missense_Mutation_p.V285M|IKZF2_ENST00000374327.4_Missense_Mutation_p.V140M			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	285					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)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTTACCCACAAACTTTTGT	0.393																																																	0								ENSG00000030419						132	130	131					2																	213878518		2203	4300	6503	IKZF2	SO:0001583	missense	0			-	HGNC	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.853G>A	2.37:g.213878518C>T	ENSP00000412869:p.Val285Met	Somatic	0	100	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	87	17.14	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V285M	ENST00000434687.1	37	c.853	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424618	0.62733	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.20200	2.94;2.9;2.94;2.97;2.83;2.09	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	T	0.36248	0.0960	L	0.54323	1.7	0.80722	D	1	P;P;B;P;D	0.54047	0.874;0.919;0.11;0.895;0.964	B;P;B;P;P	0.52481	0.366;0.682;0.138;0.467;0.7	T	0.02244	-1.1189	10	0.54805	T	0.06	.	19.8269	0.96621	0.0:1.0:0.0:0.0	.	213;140;259;285;63	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	M	285;291;285;259;213;140	ENSP00000410447:V285M;ENSP00000342876:V291M;ENSP00000412869:V285M;ENSP00000363439:V259M;ENSP00000395203:V213M;ENSP00000363447:V140M	ENSP00000342876:V291M	V	-	1	0	IKZF2	213586763	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	4.620000	0.61226	2.765000	0.95021	0.555000	0.69702	GTG	-	NULL		0.393	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	protein_coding	OTTHUMT00000256593.3	C	NM_016260	-		213878518	-1	no_errors	ENST00000434687	ensembl	human	known	74_37	missense	SNP	1.000	T	T	213878518	C	T	213878518	3	4	196	1	0	0	0	0	1	0	0	0	7617	478	17	2	735	2	IKZF2	2	213878518	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3303784	213878518	29320855	404	13676											
TNS1	7145	genome.wustl.edu	37	chr2	218682868	218682868	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggcttccagggctggctAttgcattgctatgaagaccg	14	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:218682868A>T	ENST00000171887.4	-	24	4327	c.3875T>A	c.(3874-3876)aTa>aAa	p.I1292K	TNS1_ENST00000419504.1_Missense_Mutation_p.I1279K|TNS1_ENST00000430930.1_Missense_Mutation_p.I1271K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1292					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGCTGGCTATTGCATTGCT	0.667																																																	0								ENSG00000079308						22	22	22					2																	218682868		2203	4297	6500	TNS1	SO:0001583	missense	0			-	HGNC	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3875T>A	2.37:g.218682868A>T	ENSP00000171887:p.Ile1292Lys	Somatic	0	61	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	57	49.56	Q4ZG71|Q6IPI5	Missense_Mutation	SNP							pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I1292K	ENST00000171887.4	37	c.3875	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	A	5.088	0.201792	0.09652	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91407	-2.82;2.2;-2.84;-2.83	4.83	2.47	0.30058	.	1.695990	0.03138	N	0.166239	T	0.81297	0.4793	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.27068	0.167;0.026;0.028	B;B;B	0.20184	0.028;0.018;0.016	T	0.71593	-0.4546	10	0.42905	T	0.14	.	7.2285	0.26028	0.8206:0.0:0.1794:0.0	.	1292;1271;1279	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	K	1292;430;1279;1271	ENSP00000171887:I1292K;ENSP00000394171:I430K;ENSP00000408724:I1279K;ENSP00000406016:I1271K	ENSP00000171887:I1292K	I	-	2	0	TNS1	218391113	0.010000	0.17322	0.002000	0.10522	0.119000	0.20118	1.648000	0.37271	0.818000	0.34468	0.460000	0.39030	ATA	-	NULL		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	protein_coding	OTTHUMT00000256672.2	A	NM_022648	-		218682868	-1	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	SNP	0.001	T	T	218682868	A	T	218682868	3	4	196	1	0	0	0	0	1	0	0	0	16350	449	16	5	1372	5	TNS1	2	218682868	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	4804350	218682868	24516505	405	13677											
USP37	57695	genome.wustl.edu	37	chr2	219360517	219360517	+	Missense_Mutation	SNP	C	C	T													ggagtgctgaacctcaaactCcaaattagtaataacagggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219360517C>T	ENST00000258399.3	-	14	1850	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	USP37_ENST00000418019.1_Missense_Mutation_p.E480K|USP37_ENST00000454775.1_Missense_Mutation_p.E480K|USP37_ENST00000415516.1_Missense_Mutation_p.E408K	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	480	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTCAAACTCCAAATTAGTA	0.343																																																	0								ENSG00000135913						100	99	99					2																	219360517		2203	4300	6503	USP37	SO:0001583	missense	0			-	HGNC	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1438G>A	2.37:g.219360517C>T	ENSP00000258399:p.Glu480Lys	Somatic	0	92	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	100	11.50	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.E480K	ENST00000258399.3	37	c.1438	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.813555	0.96975	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.107361	0.64402	D	0.000007	T	0.57725	0.2073	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.992	T	0.60332	-0.7284	10	0.87932	D	0	-14.9404	19.3648	0.94458	0.0:1.0:0.0:0.0	.	408;480	Q86T82-2;Q86T82	.;UBP37_HUMAN	K	480;480;408;480	ENSP00000258399:E480K;ENSP00000393662:E480K;ENSP00000400902:E408K;ENSP00000396585:E480K	ENSP00000258399:E480K	E	-	1	0	USP37	219068761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.780000	0.85658	2.583000	0.87209	0.591000	0.81541	GAG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	protein_coding	OTTHUMT00000256779.3	C	NM_020935	-		219360517	-1	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	SNP	1.000	T	T	219360517	C	T	219360517	3	4	196	1	0	0	0	0	1	0	0	0	17075	864	30	2	1553	2	USP37	2	219360517	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	677649	219360517	23838856	406	13678	233	2									
USP37	57695	genome.wustl.edu	37	chr2	219360518	219360518	+	Silent	SNP	C	C	T													gagtgctgaacctcaaactcCaaattagtaataacagggca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219360518C>T	ENST00000258399.3	-	14	1849	c.1437G>A	c.(1435-1437)ttG>ttA	p.L479L	USP37_ENST00000418019.1_Silent_p.L479L|USP37_ENST00000454775.1_Silent_p.L479L|USP37_ENST00000415516.1_Silent_p.L407L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	479	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTCAAACTCCAAATTAGTAA	0.343																																																	0								ENSG00000135913						99	98	99					2																	219360518		2203	4300	6503	USP37	SO:0001819	synonymous_variant	0			-	HGNC	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1437G>A	2.37:g.219360518C>T		Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	95	12.84	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP							pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.L479	ENST00000258399.3	37	c.1437	CCDS2418.1	2																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	protein_coding	OTTHUMT00000256779.3	C	NM_020935	-		219360518	-1	no_errors	ENST00000258399	ensembl	human	known	74_37	silent	SNP	1.000	T	T	219360518	C	T	219360518	2	4	196	1	0	0	0	0	0	0	0	1	17075	593	21	2		2	USP37	2	219360518	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	219360518	23838855	407	13679	233	2									
BCS1L	617	genome.wustl.edu	37	chr2	219526215	219526215	+	Missense_Mutation	SNP	C	C	T													gactccttgggaatctgtcaCcttcacggccctgggcactg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219526215C>T	ENST00000431802.1	+	3	1106	c.407C>T	c.(406-408)aCc>aTc	p.T136I	ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.T136I|BCS1L_ENST00000439945.1_Missense_Mutation_p.T136I|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.T136I|BCS1L_ENST00000359273.3_Missense_Mutation_p.T136I|BCS1L_ENST00000392110.2_Missense_Mutation_p.T136I|BCS1L_ENST00000392111.2_Missense_Mutation_p.T136I			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	136					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATCTGTCACCTTCACGGCC	0.532																																																	0								ENSG00000074582						88	97	94					2																	219526215		2203	4300	6503	BCS1L	SO:0001583	missense	0			-	HGNC	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.407C>T	2.37:g.219526215C>T	ENSP00000413908:p.Thr136Ile	Somatic	0	40	0		0.52429534266604	111	21.28	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	B3KTW9|Q7Z2V7	Missense_Mutation	SNP							pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T136I	ENST00000431802.1	37	c.407	CCDS2419.1	2	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926443	0.73327	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16	5.33	5.33	0.75918	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.94142	3.5	0.80722	D	1	B	0.13594	0.008	B	0.20577	0.03	D	0.95533	0.8605	10	0.54805	T	0.06	-12.1318	19.2185	0.93788	0.0:1.0:0.0:0.0	.	136	Q9Y276	BCS1_HUMAN	I	136;136;16;136;136;136;136;136;136;136	ENSP00000398957:T136I;ENSP00000395440:T136I;ENSP00000412729:T16I;ENSP00000352219:T136I;ENSP00000375957:T136I;ENSP00000375958:T136I;ENSP00000375959:T136I;ENSP00000406494:T136I;ENSP00000404999:T136I;ENSP00000413908:T136I	ENSP00000352219:T136I	T	+	2	0	BCS1L	219234459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.939000	0.56591	2.774000	0.95407	0.650000	0.86243	ACC	-	pfam_BCS1_N		0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	protein_coding	OTTHUMT00000336756.1	C	NM_004328	-		219526215	1	no_errors	ENST00000359273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	219526215	C	T	219526215	3	4	196	1	0	0	0	0	1	0	0	0	1389	507	18	2	413	2	BCS1L	2	219526215	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	165697	219526215	23673158	408	13680	234	2									
BCS1L	617	genome.wustl.edu	37	chr2	219526216	219526216	+	Silent	SNP	C	C	T													actccttgggaatctgtcacCttcacggccctgggcactga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219526216C>T	ENST00000431802.1	+	3	1107	c.408C>T	c.(406-408)acC>acT	p.T136T	ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Silent_p.T136T|BCS1L_ENST00000439945.1_Silent_p.T136T|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392109.1_Silent_p.T136T|BCS1L_ENST00000359273.3_Silent_p.T136T|BCS1L_ENST00000392110.2_Silent_p.T136T|BCS1L_ENST00000392111.2_Silent_p.T136T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	136					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTGTCACCTTCACGGCCC	0.537																																																	0								ENSG00000074582						87	96	93					2																	219526216		2203	4300	6503	BCS1L	SO:0001819	synonymous_variant	0			-	HGNC	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.408C>T	2.37:g.219526216C>T		Somatic	0	41	0		0.52429534266604	115	20.69	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	B3KTW9|Q7Z2V7	Silent	SNP							pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T136	ENST00000431802.1	37	c.408	CCDS2419.1	2																																																																																			-	pfam_BCS1_N		0.537	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	protein_coding	OTTHUMT00000336756.1	C	NM_004328	-		219526216	1	no_errors	ENST00000359273	ensembl	human	known	74_37	silent	SNP	1.000	T	T	219526216	C	T	219526216	2	4	196	1	0	0	0	0	0	0	0	1	1389	668	24	2		2	BCS1L	2	219526216	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	219526216	23673157	409	13681	234	2									
CYP27A1	1593	genome.wustl.edu	37	chr2	219677814	219677814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctcatggctggagtgGacacggtgcgtgaaggggga	19	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219677814G>A	ENST00000258415.4	+	5	1439	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	338					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGCTGGAGTGGACACGGTGCG	0.622																																																	0								ENSG00000135929						31	33	32					2																	219677814		2203	4299	6502	CYP27A1	SO:0001583	missense	0			-	HGNC	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1012G>A	2.37:g.219677814G>A	ENSP00000258415:p.Asp338Asn	Somatic	0	18	0		0.52429534266604	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D338N	ENST00000258415.4	37	c.1012	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683826	0.88639	.	.	ENSG00000135929	ENST00000258415	T	0.73681	-0.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	H	0.96547	3.84	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	D	0.92211	0.5776	10	0.87932	D	0	-36.0313	13.6822	0.62493	0.0755:0.0:0.9245:0.0	.	338	Q02318	CP27A_HUMAN	N	338	ENSP00000258415:D338N	ENSP00000258415:D338N	D	+	1	0	CYP27A1	219386058	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.656000	0.83736	2.832000	0.97577	0.655000	0.94253	GAC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.622	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	protein_coding	OTTHUMT00000109734.4	G		-		219677814	1	no_errors	ENST00000258415	ensembl	human	known	74_37	missense	SNP	1.000	A	A	219677814	G	A	219677814	3	1	196	1	0	0	0	0	1	0	0	0	4160	1174	41	2	1030	2	CYP27A1	2	219677814	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	151598	219677814	23521559	410	13682											
CCDC108	255101	genome.wustl.edu	37	chr2	219870876	219870876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggccaggacacctcctCctttggggtctgcagtttcc	12	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219870876C>T	ENST00000341552.5	-	31	4872	c.4789G>A	c.(4789-4791)Gag>Aag	p.E1597K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1597K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1597K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1597						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACACCTCCTCCTTTGGGGTC	0.617																																																	0								ENSG00000181378						56	64	61					2																	219870876		2203	4300	6503	CCDC108	SO:0001583	missense	0			-	HGNC	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4789G>A	2.37:g.219870876C>T	ENSP00000340776:p.Glu1597Lys	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP							superfamily_PapD-like,pfscan_MSP_dom	p.E1597K	ENST00000341552.5	37	c.4789	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	6.102	0.387068	0.11581	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05199	3.48;3.48;3.48	5.56	1.12	0.20585	.	0.961899	0.08528	N	0.932527	T	0.03220	0.0094	N	0.05554	-0.025	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.46965	-0.9153	10	0.09338	T	0.73	-12.6985	8.3464	0.32275	0.0:0.5895:0.0:0.4105	.	1597	Q6ZU64	CC108_HUMAN	K	1597	ENSP00000340776:E1597K;ENSP00000413377:E1597K;ENSP00000409117:E1597K	ENSP00000340776:E1597K	E	-	1	0	CCDC108	219579120	0.001000	0.12720	0.400000	0.26346	0.078000	0.17371	0.197000	0.17197	0.293000	0.22520	0.655000	0.94253	GAG	-	NULL		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	C	NM_194302	-		219870876	-1	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	SNP	0.004	T	T	219870876	C	T	219870876	3	4	196	1	0	0	0	0	1	0	0	0	2745	864	30	2	1008	2	CCDC108	2	219870876	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	193062	219870876	23328497	411	13683											
CCDC108	255101	genome.wustl.edu	37	chr2	219883821	219883821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggccaggaataccacgGaaggtggggccttgaatggt	16	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219883821G>A	ENST00000341552.5	-	21	3637	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1185F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1185F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1185						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATACCACGGAAGGTGGGGC	0.602																																																	0								ENSG00000181378						84	94	91					2																	219883821		2203	4300	6503	CCDC108	SO:0001583	missense	0			-	HGNC	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3554C>T	2.37:g.219883821G>A	ENSP00000340776:p.Ser1185Phe	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP							superfamily_PapD-like,pfscan_MSP_dom	p.S1185F	ENST00000341552.5	37	c.3554	CCDS2430.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.656665|1.656665	0.29425|0.29425	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.06068	.|3.35;3.35;3.35	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.000000	.|0.41605	.|D	.|0.000848	T|T	0.08935|0.08935	0.0221|0.0221	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	.|P	.|0.38370	.|0.628	.|P	.|0.44772	.|0.46	T|T	0.31475|0.31475	-0.9942|-0.9942	5|10	.|0.15952	.|T	.|0.53	-19.6305|-19.6305	10.9598|10.9598	0.47379|0.47379	0.0866:0.0:0.9134:0.0|0.0866:0.0:0.9134:0.0	.|.	.|1185	.|Q6ZU64	.|CC108_HUMAN	S|F	94|1185	.|ENSP00000340776:S1185F;ENSP00000413377:S1185F;ENSP00000409117:S1185F	.|ENSP00000340776:S1185F	P|S	-|-	1|2	0|0	CCDC108|CCDC108	219592065|219592065	1.000000|1.000000	0.71417|0.71417	0.333000|0.333000	0.25482|0.25482	0.160000|0.160000	0.22226|0.22226	5.128000|5.128000	0.64733|0.64733	2.453000|2.453000	0.82957|0.82957	0.561000|0.561000	0.74099|0.74099	CCG|TCC	-	NULL		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	G	NM_194302	-		219883821	-1	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	SNP	0.957	A	A	219883821	G	A	219883821	3	1	196	1	0	0	0	0	1	0	0	0	2745	1174	41	2	2283	2	CCDC108	2	219883821	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	12945	219883821	23315552	412	13684											
SLC23A3	151295	genome.wustl.edu	37	chr2	220033797	220033797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggccatggcagctaggtCccctacaaaggtgcagcatg	12	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220033797C>T	ENST00000409878.3	-	4	478	c.446G>A	c.(445-447)gGa>gAa	p.G149E	SLC23A3_ENST00000455516.2_Missense_Mutation_p.G157E|SLC23A3_ENST00000295738.7_Missense_Mutation_p.G149E|SLC23A3_ENST00000396775.3_Missense_Mutation_p.G91E	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	149					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTAGGTCCCCTACAAAG	0.577																																																	0								ENSG00000213901						83	84	84					2																	220033797		1991	4167	6158	SLC23A3	SO:0001583	missense	0			-	HGNC	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.446G>A	2.37:g.220033797C>T	ENSP00000386473:p.Gly149Glu	Somatic	0	24	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP							pfam_Xant/urac/vitC	p.G157E	ENST00000409878.3	37	c.470	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	C	2.552	-0.303898	0.05495	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.42900	0.97;2.34;2.35;0.96;2.28	5.0	2.94	0.34122	.	0.497725	0.19818	N	0.105371	T	0.50905	0.1643	L	0.55103	1.725	0.09310	N	1	P;P;D;P	0.69078	0.623;0.623;0.997;0.623	B;B;P;B	0.62184	0.179;0.179;0.899;0.179	T	0.34279	-0.9835	9	.	.	.	.	7.4266	0.27102	0.4307:0.4189:0.1504:0.0	.	149;157;149;149	Q6PIS1;B7Z512;Q6PIS1-2;B7Z508	S23A3_HUMAN;.;.;.	E	91;149;149;157;149;104	ENSP00000295738:G149E;ENSP00000386473:G149E;ENSP00000406546:G157E;ENSP00000386989:G149E;ENSP00000388907:G104E	.	G	-	2	0	SLC23A3	219742041	0.000000	0.05858	0.009000	0.14445	0.434000	0.31775	0.138000	0.16016	0.483000	0.27608	0.655000	0.94253	GGA	-	pfam_Xant/urac/vitC		0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	protein_coding	OTTHUMT00000336331.2	C	NM_144712	-		220033797	-1	no_errors	ENST00000455516	ensembl	human	known	74_37	missense	SNP	0.001	T	T	220033797	C	T	220033797	3	4	196	1	0	0	0	0	1	0	0	0	14472	855	30	2	1422	2	SLC23A3	2	220033797	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	149976	220033797	23165576	413	13685											
PTPRN	5798	genome.wustl.edu	37	chr2	220164892	220164892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctggacttcactggaGgtagggctggcagtggggtg	18	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220164892G>A	ENST00000295718.2	-	9	1491	c.1251C>T	c.(1249-1251)acC>acT	p.T417T	PTPRN_ENST00000409251.3_Silent_p.T417T|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.T327T	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	417					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)		CTTCACTGGAGGTAGGGCTGG	0.617																																																	0								ENSG00000054356						66	76	72					2																	220164892		2203	4300	6503	PTPRN	SO:0001819	synonymous_variant	0			-	HGNC		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.1251C>T	2.37:g.220164892G>A		Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T417	ENST00000295718.2	37	c.1251	CCDS2440.1	2																																																																																			-	NULL		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	G		-		220164892	-1	no_errors	ENST00000295718	ensembl	human	known	74_37	silent	SNP	0.959	A	A	220164892	G	A	220164892	2	1	196	1	0	0	0	0	0	0	0	1	12815	987	35	2		2	PTPRN	2	220164892	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	131095	220164892	23034481	414	13686											
DNPEP	23549	genome.wustl.edu	37	chr2	220246114	220246114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagggcctctgacaccgcGtttgaagcatagcgttgctt	11	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220246114G>A	ENST00000273075.4	-	13	1402	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Silent_p.N319N|DNPEP_ENST00000523282.1_Silent_p.N402N	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	384					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGACACCGCGTTTGAAGCAT	0.597																																																	0								ENSG00000123992						189	193	192					2																	220246114		2048	4196	6244	DNPEP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1182C>T	2.37:g.220246114G>A		Somatic	0	35	0		0.52429534266604	259	37.29	154	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	25	40.91	Q9BW44|Q9NUV5	Silent	SNP							pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.N394	ENST00000273075.4	37	c.1182	CCDS42823.1	2																																																																																			-	pfam_Peptidase_M18,pfam_Peptidase_M42		0.597	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	protein_coding	OTTHUMT00000130212.1	G	NM_012100	-		220246114	-1	no_errors	ENST00000273075	ensembl	human	known	74_37	silent	SNP	0.905	A	A	220246114	G	A	220246114	2	1	196	1	0	0	0	0	0	0	0	1	4681	1136	40	1		1	DNPEP	2	220246114	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	81222	220246114	22953259	415	13687											
SPEG	10290	genome.wustl.edu	37	chr2	220333750	220333750	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtatgtagaagagccccgGacagccgcctcaggccccag	12	15	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220333750G>A	ENST00000312358.7	+	12	3603	c.3471G>A	c.(3469-3471)cgG>cgA	p.R1157R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1157					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)		AAGAGCCCCGGACAGCCGCCT	0.687																																																	0								ENSG00000072195						27	34	32					2																	220333750		1904	4113	6017	SPEG	SO:0001819	synonymous_variant	0			-	HGNC	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.3471G>A	2.37:g.220333750G>A		Somatic	0	66	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	50	47.37	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP							pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1157	ENST00000312358.7	37	c.3471	CCDS42824.1	2																																																																																			-	NULL		0.687	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876	-		220333750	1	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	SNP	0.487	A	A	220333750	G	A	220333750	2	1	196	1	0	0	0	0	0	0	0	1	15043	1161	41	2		2	SPEG	2	220333750	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	87636	220333750	22865623	416	13688											
EPHA4	2043	genome.wustl.edu	37	chr2	222321413	222321413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgcacgtggaaaacatagGaagtgagagggttcaggcct	14	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:222321413G>A	ENST00000281821.2	-	7	1564	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	EPHA4_ENST00000409854.1_Missense_Mutation_p.S508F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S457F|EPHA4_ENST00000409938.1_Missense_Mutation_p.S508F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	508	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAAAACATAGGAAGTGAGAGG	0.498																																																	0								ENSG00000116106						148	130	136					2																	222321413		2203	4300	6503	EPHA4	SO:0001583	missense	0			-	HGNC	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1523C>T	2.37:g.222321413G>A	ENSP00000281821:p.Ser508Phe	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	74	14.77	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S508F	ENST00000281821.2	37	c.1523	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945006	0.53079	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052034	0.85682	D	0.000000	T	0.58481	0.2125	L	0.50993	1.605	0.80722	D	1	B	0.29590	0.25	B	0.41691	0.364	T	0.50566	-0.8813	10	0.23891	T	0.37	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	508	P54764	EPHA4_HUMAN	F	508;508;508;457	ENSP00000281821:S508F;ENSP00000386276:S508F;ENSP00000386829:S508F;ENSP00000375923:S457F	ENSP00000281821:S508F	S	-	2	0	EPHA4	222029657	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.636000	0.83301	2.724000	0.93272	0.563000	0.77884	TCC	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	protein_coding	OTTHUMT00000256836.3	G		-		222321413	-1	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	SNP	1.000	A	A	222321413	G	A	222321413	3	1	196	1	0	0	0	0	1	0	0	0	5171	1174	41	2	1481	2	EPHA4	2	222321413	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1987663	222321413	20877960	417	13689											
CUL3	8452	genome.wustl.edu	37	chr2	225449666	225449666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagagactcaccggaaAggcccggatccgcatcttgg	14	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:225449666A>G	ENST00000264414.4	-	1	399	c.61T>C	c.(61-63)Ttt>Ctt	p.F21L	CUL3_ENST00000344951.4_Missense_Mutation_p.F21L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	21					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)			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)		CTCACCGGAAAGGCCCGGATC	0.726																																																	0								ENSG00000036257						32	31	31					2																	225449666		2197	4299	6496	CUL3	SO:0001583	missense	0			-	HGNC	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.61T>C	2.37:g.225449666A>G	ENSP00000264414:p.Phe21Leu	Somatic	0	10	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.F21L	ENST00000264414.4	37	c.61	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	A	12.41	1.931053	0.34096	.	.	ENSG00000036257	ENST00000264414;ENST00000344951	T;T	0.67345	-0.26;-0.07	2.95	1.61	0.23674	.	0.071398	0.56097	N	0.000028	T	0.50718	0.1632	N	0.19112	0.55	0.22240	N	0.999267	B;D	0.53745	0.219;0.962	B;P	0.50314	0.294;0.637	T	0.43925	-0.9361	10	0.12430	T	0.62	.	6.7638	0.23556	0.7904:0.0:0.0:0.2096	.	21;21	Q13618-3;Q13618	.;CUL3_HUMAN	L	21	ENSP00000264414:F21L;ENSP00000343601:F21L	ENSP00000264414:F21L	F	-	1	0	CUL3	225157910	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.703000	0.47110	0.965000	0.38133	0.260000	0.18958	TTT	-	NULL		0.726	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	protein_coding	OTTHUMT00000256871.2	A		-		225449666	-1	no_errors	ENST00000264414	ensembl	human	known	74_37	missense	SNP	1.000	G	G	225449666	A	G	225449666	3	3	196	1	0	0	0	0	1	0	0	0	4058	72	3	5	2309	5	CUL3	2	225449666	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	3128253	225449666	17749707	418	13690											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447297	226447297	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgctgccgtcccacgtcccCggccatgcgaaactggagaa	11	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:226447297C>G	ENST00000272907.6	+	4	1577	c.1164C>G	c.(1162-1164)ccC>ccG	p.P388P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	388	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCACGTCCCCGGCCATGCGA	0.667																																																	0								ENSG00000144460						15	20	18					2																	226447297		1968	4128	6096	NYAP2	SO:0001819	synonymous_variant	0			-	HGNC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1164C>G	2.37:g.226447297C>G		Somatic	0	44	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	A2RRN4|Q96NL2	Silent	SNP							NULL	p.P388	ENST00000272907.6	37	c.1164	CCDS46529.1	2																																																																																			-	NULL		0.667	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	protein_coding	OTTHUMT00000331258.1	C	NM_020864	-		226447297	1	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	SNP	0.093	G	G	226447297	C	G	226447297	2	3	196	1	0	0	0	0	0	0	0	1	8239	639	23	4		4	KIAA1486	2	226447297	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	997631	226447297	16752076	419	13691											
COL4A4	1286	genome.wustl.edu	37	chr2	227892684	227892684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctctccaggtggcccagGaaatccatgtggtccctgcg	11	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:227892684G>A	ENST00000396625.3	-	42	4222	c.4015C>T	c.(4015-4017)Cct>Tct	p.P1339S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1339S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1339	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTGGCCCAGGAAATCCATGT	0.478																																																	0								ENSG00000081052						41	45	44					2																	227892684		1848	4091	5939	COL4A4	SO:0001583	missense	0			-	HGNC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4015C>T	2.37:g.227892684G>A	ENSP00000379866:p.Pro1339Ser	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1339S	ENST00000396625.3	37	c.4015	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353276	0.41700	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94092	-3.35;-3.35	5.43	5.43	0.79202	.	.	.	.	.	D	0.95617	0.8575	M	0.76838	2.35	0.37728	D	0.925184	D	0.63046	0.992	P	0.61070	0.883	D	0.94943	0.8093	9	0.26408	T	0.33	.	15.0885	0.72174	0.0:0.0:1.0:0.0	.	1339	P53420	CO4A4_HUMAN	S	1339	ENSP00000379866:P1339S;ENSP00000328553:P1339S	ENSP00000328553:P1339S	P	-	1	0	COL4A4	227600928	0.978000	0.34361	0.078000	0.20375	0.979000	0.70002	2.343000	0.44001	2.699000	0.92147	0.655000	0.94253	CCT	-	pfam_Collagen		0.478	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	G	NM_000092	-		227892684	-1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	SNP	0.608	A	A	227892684	G	A	227892684	3	1	196	1	0	0	0	0	1	0	0	0	3695	1174	41	2	1085	2	COL4A4	2	227892684	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1445387	227892684	15306689	420	13692											
COL4A3	1285	genome.wustl.edu	37	chr2	228104874	228104874	+	Missense_Mutation	SNP	C	C	T													aacagggggagaagggctttCctggaccccccggttctcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228104874C>T	ENST00000396578.3	+	3	322	c.160C>T	c.(160-162)Cct>Tct	p.P54S	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	54	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGGGCTTTCCTGGACCCCC	0.502																																																	0								ENSG00000169031						51	53	52					2																	228104874		1889	4125	6014	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.160C>T	2.37:g.228104874C>T	ENSP00000379823:p.Pro54Ser	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P54S	ENST00000396578.3	37	c.160	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412277	0.62511	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97665	-4.48	5.87	5.87	0.94306	.	0.112285	0.41097	D	0.000960	D	0.98099	0.9373	M	0.79614	2.46	0.36485	D	0.86806	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.967;0.982;0.999;0.995	D	0.99271	1.0893	10	0.21014	T	0.42	.	15.7708	0.78167	0.0:1.0:0.0:0.0	.	54;54;54;54	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	S	54	ENSP00000379823:P54S	ENSP00000323334:P54S	P	+	1	0	COL4A3	227813118	0.530000	0.26330	0.447000	0.26932	0.402000	0.30811	1.140000	0.31516	2.792000	0.96026	0.650000	0.86243	CCT	-	pfam_Collagen		0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	C	NM_000091	-		228104874	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.853	T	T	228104874	C	T	228104874	3	4	196	1	0	0	0	0	1	0	0	0	3693	855	30	2	170	2	COL4A3	2	228104874	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	212190	228104874	15094499	421	13693	235	2									
COL4A3	1285	genome.wustl.edu	37	chr2	228104875	228104875	+	Missense_Mutation	SNP	C	C	T													acagggggagaagggctttcCtggaccccccggttctcctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228104875C>T	ENST00000396578.3	+	3	323	c.161C>T	c.(160-162)cCt>cTt	p.P54L	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	54	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGCTTTCCTGGACCCCCC	0.502																																																	0								ENSG00000169031						51	52	52					2																	228104875		1885	4123	6008	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.161C>T	2.37:g.228104875C>T	ENSP00000379823:p.Pro54Leu	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P54L	ENST00000396578.3	37	c.161	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087184	0.55968	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97731	-4.51	5.87	5.0	0.66597	.	0.112285	0.41097	D	0.000960	D	0.98043	0.9355	M	0.79614	2.46	0.47308	D	0.999386	B;B;D;P	0.89917	0.215;0.356;1.0;0.855	B;B;D;P	0.91635	0.139;0.231;0.999;0.741	D	0.98258	1.0497	10	0.08179	T	0.78	.	11.2146	0.48819	0.0:0.9154:0.0:0.0846	.	54;54;54;54	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	54	ENSP00000379823:P54L	ENSP00000323334:P54L	P	+	2	0	COL4A3	227813119	0.666000	0.27475	0.453000	0.27007	0.460000	0.32559	3.937000	0.56575	1.498000	0.48600	0.650000	0.86243	CCT	-	pfam_Collagen		0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	C	NM_000091	-		228104875	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.844	T	T	228104875	C	T	228104875	3	4	196	1	0	0	0	0	1	0	0	0	3693	681	24	2	171	2	COL4A3	2	228104875	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	228104875	15094498	422	13694	235	2									
COL4A3	1285	genome.wustl.edu	37	chr2	228118052	228118052	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataggacataaaggagagcGggtaatttaaatactatgtt	11	3	0	1	rs188942711		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228118052G>A	ENST00000396578.3	+	12	848	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	229	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGAGAGCGGGTAATTTAA	0.343													G|||	1	0.000199681	8e-04	0	5008	,	,		16345	0		0	False		,,,				2504	0																0								ENSG00000169031						129	128	128					2																	228118052		1797	4070	5867	COL4A3	SO:0001630	splice_region_variant	0			GMAF=0.0005	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.687+1G>A	2.37:g.228118052G>A		Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	51	32.89	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R229Q	ENST00000396578.3	37	c.686	CCDS42829.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.83	1.756572	0.31137	.	.	ENSG00000169031	ENST00000396578	D	0.93604	-3.25	5.51	-6.34	0.01982	.	.	.	.	.	T	0.79167	0.4400	N	0.13371	0.34	0.09310	N	1	B;B;B;B	0.33940	0.433;0.433;0.433;0.307	B;B;B;B	0.26614	0.071;0.071;0.021;0.033	T	0.72114	-0.4388	9	0.22706	T	0.39	.	2.6501	0.04996	0.441:0.1967:0.2625:0.0998	.	229;229;229;229	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	Q	229	ENSP00000379823:R229Q	ENSP00000379823:R229Q	R	+	2	0	COL4A3	227826296	0.001000	0.12720	0.001000	0.08648	0.507000	0.33981	-0.471000	0.06631	-1.564000	0.01678	-0.175000	0.13238	CGG	-	NULL		0.343	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	G	NM_000091	rs188942711	Missense_Mutation	228118052	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.000	A	A	228118052	G	A	228118052	5	1	196	1	0	0	0	0	0	0	1	0	3693	1130	39	1	732	1	COL4A3	2	228118052	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	13177	228118052	15081321	423	13695											
SLC19A3	80704	genome.wustl.edu	37	chr2	228563864	228563864	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttcttgggcattggtagGaaaagtgagaaaaggaaagc	13	4	1	1	rs373262430		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228563864G>A	ENST00000258403.3	-	3	638	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SLC19A3_ENST00000541617.1_Silent_p.F185F|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	189					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCATTGGTAGGAAAAGTGAGA	0.443																																																	0								ENSG00000135917	G		0,4406		0,0,2203	93	86	88		567	-1	0.1	2		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		189/497	228563864	1,13005	2203	4300	6503	SLC19A3	SO:0001819	synonymous_variant	0			-	HGNC	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.567C>T	2.37:g.228563864G>A		Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	53	24.29		Silent	SNP							pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.F189	ENST00000258403.3	37	c.567	CCDS2468.1	2																																																																																			-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.443	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	protein_coding	OTTHUMT00000256894.1	G		-		228563864	-1	no_errors	ENST00000258403	ensembl	human	known	74_37	silent	SNP	0.541	A	A	228563864	G	A	228563864	2	1	196	1	0	0	0	0	0	0	0	1	14438	1165	41	2		2	SLC19A3	2	228563864	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	445812	228563864	14635509	424	13696											
TRIP12	9320	genome.wustl.edu	37	chr2	230723648	230723648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttactctgttccttttcCctgctacttcttctggggct	7	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:230723648C>T	ENST00000283943.5	-	3	919	c.741G>A	c.(739-741)agG>agA	p.R247R	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Silent_p.R289R|TRIP12_ENST00000409677.1_Silent_p.R289R|TRIP12_ENST00000389044.4_Silent_p.R289R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	247					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTTCCTTTTCCCTGCTACTTC	0.493																																																	0								ENSG00000153827						116	115	116					2																	230723648		2203	4300	6503	TRIP12	SO:0001819	synonymous_variant	0			-	HGNC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.741G>A	2.37:g.230723648C>T		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP							pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R247	ENST00000283943.5	37	c.741	CCDS33391.1	2																																																																																			-	NULL		0.493	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	protein_coding	OTTHUMT00000331861.3	C	NM_004238	-		230723648	-1	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	SNP	1.000	T	T	230723648	C	T	230723648	2	4	196	1	0	0	0	0	0	0	0	1	16563	622	22	2		2	TRIP12	2	230723648	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2159784	230723648	12475725	425	13697											
ALPI	248	genome.wustl.edu	37	chr2	233320961	233320961	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaggctacagctctccCtgggcgtcatcccaggtaat	11	14	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233320961C>G	ENST00000295463.3	+	1	129	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	18					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGCTCTCCCTGGGCGTCAT	0.662																																																	0								ENSG00000163295						69	70	70					2																	233320961		2203	4300	6503	ALPI	SO:0001583	missense	0			-	HGNC	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.52C>G	2.37:g.233320961C>G	ENSP00000295463:p.Leu18Val	Somatic	0	132	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	73	45.11	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP							pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.L18V	ENST00000295463.3	37	c.52	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	c	9.328	1.059841	0.19987	.	.	ENSG00000163295	ENST00000295463	T	0.54479	0.57	4.96	4.08	0.47627	.	0.707453	0.14193	N	0.335226	T	0.43122	0.1233	M	0.73753	2.245	0.09310	N	0.999998	P	0.43094	0.799	B	0.30179	0.112	T	0.37842	-0.9688	10	0.24483	T	0.36	.	7.152	0.25616	0.1688:0.7412:0.0:0.09	.	18	P09923	PPBI_HUMAN	V	18	ENSP00000295463:L18V	ENSP00000295463:L18V	L	+	1	2	ALPI	233029205	0.000000	0.05858	0.018000	0.16275	0.020000	0.10135	-0.048000	0.11944	1.409000	0.46915	0.563000	0.77884	CTG	-	NULL		0.662	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	protein_coding	OTTHUMT00000257035.2	C	NM_001631	-		233320961	1	no_errors	ENST00000295463	ensembl	human	known	74_37	missense	SNP	0.631	G	G	233320961	C	G	233320961	3	3	196	1	0	0	0	0	1	0	0	0	543	680	24	4	54	4	ALPI	2	233320961	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2597313	233320961	9878412	426	13698											
ECEL1	9427	genome.wustl.edu	37	chr2	233345431	233345431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccacccagcccacctgGgcaaaggcaatgaagaagag	10	15	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233345431G>A	ENST00000304546.1	-	16	2358	c.2148C>T	c.(2146-2148)gcC>gcT	p.A716A	ECEL1_ENST00000409941.1_Silent_p.A714A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	716					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCCCACCTGGGCAAAGGCAA	0.637																																																	0								ENSG00000171551						68	70	69					2																	233345431		2203	4300	6503	ECEL1	SO:0001819	synonymous_variant	0			-	HGNC	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2148C>T	2.37:g.233345431G>A		Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	32	53.62	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A716	ENST00000304546.1	37	c.2148	CCDS2493.1	2																																																																																			-	pfam_Peptidase_M13_C		0.637	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	protein_coding	OTTHUMT00000257039.2	G	NM_004826	-		233345431	-1	no_errors	ENST00000304546	ensembl	human	known	74_37	silent	SNP	0.998	A	A	233345431	G	A	233345431	2	1	196	1	0	0	0	0	0	0	0	1	4893	1219	43	2		2	ECEL1	2	233345431	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	24470	233345431	9853942	427	13699											
CHRND	1144	genome.wustl.edu	37	chr2	233399932	233399932	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtgggcacagcctggatCttcctgcagggcgtttacaa	14	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233399932C>T	ENST00000258385.3	+	12	1496	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	CHRND_ENST00000543200.1_Silent_p.I473I|CHRND_ENST00000457943.2_Silent_p.I294I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	488					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGCCTGGATCTTCCTGCAGG	0.612																																																	0								ENSG00000135902						116	112	114					2																	233399932		2203	4300	6503	CHRND	SO:0001819	synonymous_variant	0			-	HGNC	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1464C>T	2.37:g.233399932C>T		Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	75	9.64	A8K661|B4DT92|Q52LH4	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I488	ENST00000258385.3	37	c.1464	CCDS2494.1	2																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	protein_coding	OTTHUMT00000257038.2	C		-		233399932	1	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	SNP	1.000	T	T	233399932	C	T	233399932	2	4	196	1	0	0	0	0	0	0	0	1	3396	903	32	2		2	CHRND	2	233399932	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	54501	233399932	9799441	428	13700											
CHRNG	1146	genome.wustl.edu	37	chr2	233410306	233410306	+	Silent	SNP	G	G	A													ctggaccgcgtctgcttcctGgccatgctctcgctcttcat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233410306G>A	ENST00000389494.3	+	12	1455	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	CHRNG_ENST00000389492.3_Silent_p.L426L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	478					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TCTGCTTCCTGGCCATGCTCT	0.647																																																	0								ENSG00000196811						119	89	99					2																	233410306		2203	4300	6503	CHRNG	SO:0001819	synonymous_variant	0			-	HGNC	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1434G>A	2.37:g.233410306G>A		Somatic	0	31	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	B3KWM8|Q14DU4|Q53RG2	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L478	ENST00000389494.3	37	c.1434	CCDS33400.1	2																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.647	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	protein_coding	OTTHUMT00000330743.1	G	NM_005199	-		233410306	1	no_errors	ENST00000389494	ensembl	human	known	74_37	silent	SNP	1.000	A	A	233410306	G	A	233410306	2	1	196	1	0	0	0	0	0	0	0	1	3398	1335	47	2		2	CHRNG	2	233410306	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10374	233410306	9789067	429	13701	236	2									
CHRNG	1146	genome.wustl.edu	37	chr2	233410307	233410307	+	Missense_Mutation	SNP	G	G	A													tggaccgcgtctgcttcctgGccatgctctcgctcttcatc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233410307G>A	ENST00000389494.3	+	12	1456	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	CHRNG_ENST00000389492.3_Missense_Mutation_p.A427T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	479					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CTGCTTCCTGGCCATGCTCTC	0.642																																																	0								ENSG00000196811						120	90	100					2																	233410307		2203	4300	6503	CHRNG	SO:0001583	missense	0			-	HGNC	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1435G>A	2.37:g.233410307G>A	ENSP00000374145:p.Ala479Thr	Somatic	0	31	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.29	B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.A479T	ENST00000389494.3	37	c.1435	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799542	0.70567	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.85556	-2.0;-2.0	4.53	4.53	0.55603	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.185258	0.38058	N	0.001821	T	0.79197	0.4405	L	0.33189	0.99	0.35000	D	0.755874	P;B	0.37207	0.587;0.277	B;B	0.41174	0.287;0.349	D	0.84655	0.0703	10	0.66056	D	0.02	.	8.8768	0.35350	0.1437:0.0:0.8563:0.0	.	427;479	Q14DU4;P07510	.;ACHG_HUMAN	T	479;479;427	ENSP00000374145:A479T;ENSP00000374143:A427T	ENSP00000374143:A427T	A	+	1	0	CHRNG	233118551	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.213000	0.58520	2.045000	0.60652	0.462000	0.41574	GCC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.642	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	protein_coding	OTTHUMT00000330743.1	G	NM_005199	-		233410307	1	no_errors	ENST00000389494	ensembl	human	known	74_37	missense	SNP	1.000	A	A	233410307	G	A	233410307	3	1	196	1	0	0	0	0	1	0	0	0	3398	1203	42	2	1481	2	CHRNG	2	233410307	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	233410307	9789066	430	13702	236	2									
KCNJ13	3769	genome.wustl.edu	37	chr2	233633287	233633287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagatgaagaatggacattCgtcagaactgatgccatcaa	9	7	2	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233633287C>T	ENST00000233826.3	-	3	836	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000373566.3_Intron|AC064852.4_ENST00000427571.1_RNA|KCNJ13_ENST00000410029.1_Missense_Mutation_p.E233K|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	233					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AATGGACATTCGTCAGAACTG	0.453																																																	0								ENSG00000115474						174	140	152					2																	233633287		2203	4300	6503	KCNJ13	SO:0001583	missense	0			-	HGNC	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.697G>A	2.37:g.233633287C>T	ENSP00000233826:p.Glu233Lys	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	59	38.54	A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_KCNJ13,prints_K_chnl_inward-rec_Kir	p.E233K	ENST00000233826.3	37	c.697	CCDS2498.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145108	0.77888	.	.	ENSG00000115474	ENST00000233826;ENST00000410029;ENST00000438786	D;D;D	0.94457	-3.43;-3.43;-3.43	6.07	6.07	0.98685	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.142736	0.64402	D	0.000005	D	0.96408	0.8828	M	0.73217	2.22	0.46061	D	0.998843	D	0.65815	0.995	P	0.55508	0.777	D	0.96171	0.9123	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	233	O60928	IRK13_HUMAN	K	233;233;153	ENSP00000233826:E233K;ENSP00000386251:E233K;ENSP00000407284:E153K	ENSP00000233826:E233K	E	-	1	0	KCNJ13	233341531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.223000	0.58587	2.885000	0.99019	0.655000	0.94253	GAA	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.453	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ13	protein_coding	OTTHUMT00000257036.1	C	NM_002242	-		233633287	-1	no_errors	ENST00000233826	ensembl	human	known	74_37	missense	SNP	1.000	T	T	233633287	C	T	233633287	3	4	196	1	0	0	0	0	1	0	0	0	8049	893	31	1	389	1	KCNJ13	2	233633287	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	222980	233633287	9566086	431	13703											
HJURP	55355	genome.wustl.edu	37	chr2	234750475	234750475	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagttctccttggagctcctCtgagaacgtctggctccttt	9	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234750475C>T	ENST00000411486.2	-	8	1016	c.951G>A	c.(949-951)caG>caA	p.Q317Q	HJURP_ENST00000432087.1_Silent_p.Q263Q|HJURP_ENST00000441687.1_Silent_p.Q232Q|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	317					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.Q317H(1)		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)		TGGAGCTCCTCTGAGAACGTC	0.463																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000123485						63	64	64					2																	234750475		2203	4300	6503	HJURP	SO:0001819	synonymous_variant	0			-	HGNC		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.951G>A	2.37:g.234750475C>T		Somatic	0	52	0		0.52429534266604	8	27.27	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP							pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.Q317	ENST00000411486.2	37	c.951	CCDS33406.1	2																																																																																			-	pfam_HJURP		0.463	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	C	NM_018410	-		234750475	-1	no_errors	ENST00000411486	ensembl	human	known	74_37	silent	SNP	0.000	T	T	234750475	C	T	234750475	2	4	196	1	0	0	0	0	0	0	0	1	7191	912	32	2		2	HJURP	2	234750475	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1117188	234750475	8448898	432	13704											
TRPM8	79054	genome.wustl.edu	37	chr2	234891740	234891740	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcctctttgcggtgtggaTggtggcctttggcgtggcca	16	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234891740T>G	ENST00000324695.4	+	20	2673	c.2633T>G	c.(2632-2634)aTg>aGg	p.M878R	TRPM8_ENST00000433712.2_Missense_Mutation_p.M456R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	878					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)	GCGGTGTGGATGGTGGCCTTT	0.587																																																	0								ENSG00000144481						249	213	225					2																	234891740		2203	4300	6503	TRPM8	SO:0001583	missense	0			-	HGNC	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.2633T>G	2.37:g.234891740T>G	ENSP00000323926:p.Met878Arg	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.M878R	ENST00000324695.4	37	c.2633	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742824	0.89573	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	D;D;D	0.98531	-4.98;-4.98;-4.98	5.8	5.8	0.92144	Ion transport (1);	0.066196	0.64402	D	0.000005	D	0.98077	0.9366	L	0.46157	1.445	0.43476	D	0.995696	D;P	0.58268	0.982;0.927	P;P	0.61132	0.884;0.596	D	0.99177	1.0866	10	0.87932	D	0	-48.753	14.9778	0.71289	0.0:0.0:0.0:1.0	.	456;878	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	R	878;456;139	ENSP00000323926:M878R;ENSP00000404423:M456R;ENSP00000414198:M139R	ENSP00000323926:M878R	M	+	2	0	TRPM8	234556479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.213000	0.71641	0.528000	0.53228	ATG	-	pfam_Ion_trans_dom		0.587	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	protein_coding	OTTHUMT00000131005.4	T	NM_024080	-		234891740	1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	SNP	1.000	G	G	234891740	T	G	234891740	3	3	196	1	0	0	0	0	1	0	0	0	16599	1464	51	5	2707	5	TRPM8	2	234891740	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	141265	234891740	8307633	433	13705											
TRPM8	79054	genome.wustl.edu	37	chr2	234915549	234915549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggagggtgtcatgaaggaAaactaccttgtcaagatcaa	12	6	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234915549A>T	ENST00000324695.4	+	23	3223	c.3183A>T	c.(3181-3183)gaA>gaT	p.E1061D	TRPM8_ENST00000433712.2_Missense_Mutation_p.E639D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1061					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)	TCATGAAGGAAAACTACCTTG	0.418																																																	0								ENSG00000144481						137	112	120					2																	234915549		2203	4300	6503	TRPM8	SO:0001583	missense	0			-	HGNC	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.3183A>T	2.37:g.234915549A>T	ENSP00000323926:p.Glu1061Asp	Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	45	36.62	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.E1061D	ENST00000324695.4	37	c.3183	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	A	19.74	3.882967	0.72410	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.62498	0.02;0.09;0.28	5.81	-1.17	0.09648	.	0.000000	0.64402	D	0.000003	T	0.70343	0.3213	M	0.62723	1.935	0.21020	N	0.999808	P;D	0.64830	0.614;0.994	P;D	0.70716	0.562;0.97	T	0.64058	-0.6496	10	0.66056	D	0.02	-25.3342	9.704	0.40205	0.5699:0.0:0.4301:0.0	.	639;1061	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	D	1061;639;322	ENSP00000323926:E1061D;ENSP00000404423:E639D;ENSP00000414198:E322D	ENSP00000323926:E1061D	E	+	3	2	TRPM8	234580288	0.999000	0.42202	0.990000	0.47175	0.997000	0.91878	0.414000	0.21164	-0.448000	0.07128	0.528000	0.53228	GAA	-	NULL		0.418	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	protein_coding	OTTHUMT00000131005.4	A	NM_024080	-		234915549	1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	SNP	0.997	T	T	234915549	A	T	234915549	3	4	196	1	0	0	0	0	1	0	0	0	16599	11	1	5	3269	5	TRPM8	2	234915549	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	23809	234915549	8283824	434	13706											
KLHL30	377007	genome.wustl.edu	37	chr2	239049493	239049493	+	Missense_Mutation	SNP	C	C	T													gcgctctcagcccaagctggCcgacgtcacactgctggtgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:239049493C>T	ENST00000409223.1	+	2	205	c.98C>T	c.(97-99)gCc>gTc	p.A33V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A15V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCAAGCTGGCCGACGTCACA	0.662																																																	0								ENSG00000168427						20	24	23					2																	239049493		2130	4243	6373	KLHL30	SO:0001583	missense	0			-	HGNC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.98C>T	2.37:g.239049493C>T	ENSP00000386389:p.Ala33Val	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.62	Q6ZUS1	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A33V	ENST00000409223.1	37	c.98	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218879	0.09810	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.66099	-0.19;-0.19	5.75	4.88	0.63580	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.257753	0.39475	N	0.001349	T	0.45357	0.1338	N	0.12527	0.23	0.28573	N	0.910526	B	0.09022	0.002	B	0.15484	0.013	T	0.44559	-0.9320	10	0.51188	T	0.08	.	13.7785	0.63069	0.0:0.9249:0.0:0.0751	.	33	Q0D2K2	KLH30_HUMAN	V	33;15	ENSP00000386389:A33V;ENSP00000302386:A15V	ENSP00000302386:A15V	A	+	2	0	KLHL30	238714232	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	3.208000	0.51114	1.440000	0.47531	0.655000	0.94253	GCC	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	protein_coding	OTTHUMT00000328518.1	C	NM_198582	-		239049493	1	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	SNP	0.997	T	T	239049493	C	T	239049493	3	4	196	1	0	0	0	0	1	0	0	0	8386	739	26	2	100	2	KLHL30	2	239049493	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4133944	239049493	4149880	435	13707	237	2									
KLHL30	377007	genome.wustl.edu	37	chr2	239049494	239049494	+	Silent	SNP	C	C	T													cgctctcagcccaagctggcCgacgtcacactgctggtggg					rs575723025		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:239049494C>T	ENST00000409223.1	+	2	206	c.99C>T	c.(97-99)gcC>gcT	p.A33A	KLHL30_ENST00000305959.4_Silent_p.A15A			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAAGCTGGCCGACGTCACAC	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		17372	0		0	False		,,,				2504	0																0								ENSG00000168427						21	24	23					2																	239049494		2132	4242	6374	KLHL30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.99C>T	2.37:g.239049494C>T		Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	Q6ZUS1	Silent	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A33	ENST00000409223.1	37	c.99	CCDS46555.2	2																																																																																			-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	protein_coding	OTTHUMT00000328518.1	C	NM_198582	-		239049494	1	no_errors	ENST00000409223	ensembl	human	known	74_37	silent	SNP	0.916	T	T	239049494	C	T	239049494	2	4	196	1	0	0	0	0	0	0	0	1	8386	639	23	1		1	KLHL30	2	239049494	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	239049494	4149879	436	13708	237	2									
KIF1A	547	genome.wustl.edu	37	chr2	241659270	241659270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcccgggcaggggaagGgagcttcttggagtcggcct	18	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:241659270G>A	ENST00000320389.7	-	44	4797	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1648S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1547					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGGGAAGGGAGCTTCTTG	0.677																																																	0								ENSG00000130294						37	46	43					2																	241659270		2016	4183	6199	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4639C>T	2.37:g.241659270G>A	ENSP00000322791:p.Pro1547Ser	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1648S	ENST00000320389.7	37	c.4942	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446609	0.12223	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.10477	2.87;2.87	4.04	4.04	0.47022	.	0.336013	0.27739	U	0.018056	T	0.07413	0.0187	N	0.22421	0.69	0.20074	N	0.999931	B;B	0.31730	0.337;0.105	B;B	0.32624	0.149;0.036	T	0.32188	-0.9916	10	0.10377	T	0.69	.	12.9275	0.58268	0.0:0.0:0.8374:0.1626	.	1648;1547	F5H045;Q12756	.;KIF1A_HUMAN	S	1547;1648;1656	ENSP00000322791:P1547S;ENSP00000438388:P1648S	ENSP00000322791:P1547S	P	-	1	0	KIF1A	241307943	0.996000	0.38824	0.071000	0.20095	0.158000	0.22134	5.294000	0.65687	1.799000	0.52666	0.563000	0.77884	CCT	-	NULL		0.677	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-		241659270	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	0.212	A	A	241659270	G	A	241659270	3	1	196	1	0	0	0	0	1	0	0	0	8285	1232	43	2	449	2	KIF1A	2	241659270	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2609776	241659270	1540103	437	13709											
KIF1A	547	genome.wustl.edu	37	chr2	241710470	241710470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacggaggccgcgcggctgGacagggctgagagcgaggat	19	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:241710470G>A	ENST00000320389.7	-	14	1390	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	KIF1A_ENST00000498729.2_Missense_Mutation_p.S420F	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	411					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCGCGGCTGGACAGGGCTGA	0.642																																																	0								ENSG00000130294						51	64	60					2																	241710470		2115	4256	6371	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1232C>T	2.37:g.241710470G>A	ENSP00000322791:p.Ser411Phe	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S420F	ENST00000320389.7	37	c.1259	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410682	0.62399	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.64;-0.71;-0.78	4.11	4.11	0.48088	.	0.194953	0.45606	U	0.000352	T	0.79857	0.4518	M	0.65498	2.005	0.80722	D	1	P;D;P	0.54601	0.82;0.967;0.951	B;P;P	0.51742	0.424;0.569;0.678	T	0.83186	-0.0086	10	0.59425	D	0.04	.	16.3652	0.83317	0.0:0.0:1.0:0.0	.	420;420;411	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	F	411;420;420;420	ENSP00000322791:S411F;ENSP00000438388:S420F;ENSP00000384231:S420F	ENSP00000322791:S411F	S	-	2	0	KIF1A	241359143	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.561000	0.98142	1.848000	0.53677	0.555000	0.69702	TCC	-	NULL		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-		241710470	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	1.000	A	A	241710470	G	A	241710470	3	1	196	1	0	0	0	0	1	0	0	0	8285	1174	41	2	3976	2	KIF1A	2	241710470	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	51200	241710470	1488903	438	13710											
SNED1	25992	genome.wustl.edu	37	chr2	242002276	242002276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgcgttgctgggtacCtgtgcctctgcagcacaggc	14	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242002276C>T	ENST00000310397.8	+	17	2326	c.2326C>T	c.(2326-2328)Ctg>Ttg	p.L776L	SNED1_ENST00000401884.1_Silent_p.L776L|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.L776L|SNED1_ENST00000342631.6_Silent_p.L776L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	776	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		TGCTGGGTACCTGTGCCTCTG	0.622																																																	0								ENSG00000162804						39	39	39					2																	242002276		2025	4178	6203	SNED1	SO:0001819	synonymous_variant	0			-	HGNC	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.2326C>T	2.37:g.242002276C>T		Somatic	0	32	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP							pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.L776	ENST00000310397.8	37	c.2326	CCDS46562.1	2																																																																																			-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.622	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	C	XM_059482	-		242002276	1	no_errors	ENST00000310397	ensembl	human	known	74_37	silent	SNP	1.000	T	T	242002276	C	T	242002276	2	4	196	1	0	0	0	0	0	0	0	1	14853	680	24	2		2	SNED1	2	242002276	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	291806	242002276	1197097	439	13711											
ANO7	50636	genome.wustl.edu	37	chr2	242142872	242142872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctggaccacgtgcgcaGgtacttcggggagaaggtgg	17	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242142872G>A	ENST00000274979.8	+	9	1113	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K	ANO7_ENST00000402430.3_Missense_Mutation_p.R336K	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	337					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CACGTGCGCAGGTACTTCGGG	0.682																																																	0								ENSG00000146205						35	28	31					2																	242142872		2187	4297	6484	ANO7	SO:0001583	missense	0			-	HGNC	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1010G>A	2.37:g.242142872G>A	ENSP00000274979:p.Arg337Lys	Somatic	0	126	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	142	24.06	Q6IWH6	Missense_Mutation	SNP							pfam_Anoctamin	p.R337K	ENST00000274979.8	37	c.1010	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	5.937	0.356854	0.11239	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.61859	0.07;0.07	3.11	3.11	0.35812	.	0.230059	0.34879	U	0.003605	T	0.38639	0.1048	N	0.25426	0.745	0.28005	N	0.935141	B	0.32365	0.367	B	0.37550	0.253	T	0.30563	-0.9974	10	0.06365	T	0.9	.	7.6551	0.28371	0.1269:0.0:0.8731:0.0	.	337	Q6IWH7	ANO7_HUMAN	K	337;336	ENSP00000274979:R337K;ENSP00000385418:R336K	ENSP00000274979:R337K	R	+	2	0	ANO7	241791545	0.830000	0.29337	0.997000	0.53966	0.310000	0.27922	1.735000	0.38176	1.445000	0.47624	0.313000	0.20887	AGG	-	pfam_Anoctamin		0.682	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	G	NM_001001891	-		242142872	1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	SNP	1.000	A	A	242142872	G	A	242142872	3	1	196	1	0	0	0	0	1	0	0	0	702	1000	35	2	1116	2	ANO7	2	242142872	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	140596	242142872	1056501	440	13712											
CHL1	10752	genome.wustl.edu	37	chr3	432467	432467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggtcaacagttccaaagGacagagtacatggacgtctg	11	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:432467G>A	ENST00000256509.2	+	21	3196	c.2554G>A	c.(2554-2556)Gac>Aac	p.D852N	CHL1_ENST00000397491.2_Missense_Mutation_p.D836N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					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)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTTCCAAAGGACAGAGTACA	0.383																																																	0								ENSG00000134121						115	117	116					3																	432467		2203	4300	6503	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2554G>A	3.37:g.432467G>A	ENSP00000256509:p.Asp852Asn	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	62	23.46	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D852N	ENST00000256509.2	37	c.2554	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160305	0.57368	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.53857	0.6;0.6	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.207467	0.49916	D	0.000132	T	0.50973	0.1647	L	0.36672	1.1	0.44439	D	0.997369	B;B;B	0.21688	0.035;0.035;0.059	B;B;B	0.33890	0.05;0.05;0.172	T	0.47649	-0.9101	10	0.49607	T	0.09	.	17.7184	0.88344	0.0:0.0:1.0:0.0	.	836;836;852	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	852;836	ENSP00000256509:D852N;ENSP00000380628:D836N	ENSP00000256509:D852N	D	+	1	0	CHL1	407467	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.388000	0.59633	2.618000	0.88619	0.591000	0.81541	GAC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	G	NM_006614	-		432467	1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	0.999	A	A	432467	G	A	432467	3	1	196	1	0	0	0	0	1	0	0	0	3351	1174	41	2	2628	2	CHL1	3	432467	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		432467	197589963	441	13713											
CNTN4	152330	genome.wustl.edu	37	chr3	3084769	3084769	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaaggcagtgtgctgtatCacttagctgtcaaggcatat	10	7	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3084769C>T	ENST00000397461.1	+	21	3004	c.2620C>T	c.(2620-2622)Cac>Tac	p.H874Y	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.H546Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000418658.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000358480.3_Missense_Mutation_p.H655Y|CNTN4_ENST00000448906.2_Missense_Mutation_p.H546Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	874	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.H546Y(1)|p.H874Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGCTGTATCACTTAGCTGT	0.418																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000144619						110	103	106					3																	3084769		2203	4300	6503	CNTN4	SO:0001583	missense	0			-	HGNC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2620C>T	3.37:g.3084769C>T	ENSP00000380602:p.His874Tyr	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H874Y	ENST00000397461.1	37	c.2620	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599616	0.13939	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.195957	0.45606	D	0.000348	T	0.30947	0.0781	N	0.03268	-0.37	0.49389	D	0.999782	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.14172	-1.0482	9	.	.	.	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	873;874	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Y	874;874;874;655;546;546	ENSP00000396010:H874Y;ENSP00000380602:H874Y;ENSP00000413642:H874Y;ENSP00000351267:H655Y;ENSP00000380600:H546Y;ENSP00000392077:H546Y	.	H	+	1	0	CNTN4	3059769	0.999000	0.42202	0.799000	0.32177	0.992000	0.81027	2.899000	0.48679	2.503000	0.84419	0.655000	0.94253	CAC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	protein_coding	OTTHUMT00000239236.2	C		-		3084769	1	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3084769	C	T	3084769	3	4	196	1	0	0	0	0	1	0	0	0	3645	826	29	2	2694	2	CNTN4	3	3084769	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2652302	3084769	194937661	442	13714											
CNTN4	152330	genome.wustl.edu	37	chr3	3085331	3085331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcagactccaaaattatCctgaattgggatcaagtgaa	7	8	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3085331C>T	ENST00000397461.1	+	22	3138	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.I590I|CNTN4_ENST00000427331.1_Silent_p.I918I|CNTN4_ENST00000418658.1_Silent_p.I918I|CNTN4_ENST00000358480.3_Silent_p.I699I|CNTN4_ENST00000448906.2_Silent_p.I590I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	918	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAAAATTATCCTGAATTGGG	0.378																																																	0								ENSG00000144619						68	70	69					3																	3085331		2203	4300	6503	CNTN4	SO:0001819	synonymous_variant	0			-	HGNC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2754C>T	3.37:g.3085331C>T		Somatic	0	135	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	96	42.17	B2RAX3|Q8IX14|Q8TC35	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I918	ENST00000397461.1	37	c.2754	CCDS43041.1	3																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	protein_coding	OTTHUMT00000239236.2	C		-		3085331	1	no_errors	ENST00000397461	ensembl	human	known	74_37	silent	SNP	0.998	T	T	3085331	C	T	3085331	2	4	196	1	0	0	0	0	0	0	0	1	3645	845	30	2		2	CNTN4	3	3085331	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	562	3085331	194937099	443	13715											
CNTN4	152330	genome.wustl.edu	37	chr3	3097884	3097884	+	Missense_Mutation	SNP	A	A	T													gtacaataatgatttccctcAcagctaggtccagtttatga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3097884A>T	ENST00000397461.1	+	24	3445	c.3061A>T	c.(3061-3063)Aca>Tca	p.T1021S	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.T693S|CNTN4_ENST00000427331.1_Missense_Mutation_p.T1021S|CNTN4_ENST00000418658.1_Missense_Mutation_p.T1021S|CNTN4_ENST00000358480.3_Missense_Mutation_p.T802S|CNTN4_ENST00000448906.2_Missense_Mutation_p.T693S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1021					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATTTCCCTCACAGCTAGGTC	0.403																																																	0								ENSG00000144619						127	112	117					3																	3097884		2203	4300	6503	CNTN4	SO:0001583	missense	0			-	HGNC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3061A>T	3.37:g.3097884A>T	ENSP00000380602:p.Thr1021Ser	Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	58	33.33	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1021S	ENST00000397461.1	37	c.3061	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792087	0.50102	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57436	0.46;0.46;0.46;0.46;0.4;0.4	5.5	5.5	0.81552	.	0.243724	0.40064	N	0.001186	T	0.49218	0.1544	L	0.47716	1.5	0.80722	D	1	B;B	0.25719	0.132;0.067	B;B	0.26416	0.069;0.015	T	0.48281	-0.9049	10	0.54805	T	0.06	.	15.6012	0.76626	1.0:0.0:0.0:0.0	.	1020;1021	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	S	1021;1021;1021;802;693;693	ENSP00000396010:T1021S;ENSP00000380602:T1021S;ENSP00000413642:T1021S;ENSP00000351267:T802S;ENSP00000380600:T693S;ENSP00000392077:T693S	ENSP00000351267:T802S	T	+	1	0	CNTN4	3072884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.167000	0.89668	2.094000	0.63399	0.482000	0.46254	ACA	-	NULL		0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	protein_coding	OTTHUMT00000239236.2	A		-		3097884	1	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3097884	A	T	3097884	3	4	196	1	0	0	0	0	1	0	0	0	3645	159	6	5	3147	5	CNTN4	3	3097884	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	12553	3097884	194924546	444	13716	238	2									
CNTN4	152330	genome.wustl.edu	37	chr3	3097885	3097885	+	Missense_Mutation	SNP	C	C	T													tacaataatgatttccctcaCagctaggtccagtttatgac					rs267599765		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3097885C>T	ENST00000397461.1	+	24	3446	c.3062C>T	c.(3061-3063)aCa>aTa	p.T1021I	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.T693I|CNTN4_ENST00000427331.1_Missense_Mutation_p.T1021I|CNTN4_ENST00000418658.1_Missense_Mutation_p.T1021I|CNTN4_ENST00000358480.3_Missense_Mutation_p.T802I|CNTN4_ENST00000448906.2_Missense_Mutation_p.T693I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1021					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTTCCCTCACAGCTAGGTCC	0.403																																																	0								ENSG00000144619						127	112	117					3																	3097885		2203	4300	6503	CNTN4	SO:0001583	missense	0			-	HGNC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3062C>T	3.37:g.3097885C>T	ENSP00000380602:p.Thr1021Ile	Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	57	33.72	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1021I	ENST00000397461.1	37	c.3062	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444946	0.43429	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57273	0.45;0.45;0.45;0.46;0.41;0.41	5.5	5.5	0.81552	.	0.243724	0.40064	N	0.001186	T	0.39306	0.1073	N	0.25426	0.745	0.80722	D	1	B;B	0.26120	0.132;0.142	B;B	0.25884	0.064;0.014	T	0.33059	-0.9883	10	0.02654	T	1	.	19.3897	0.94576	0.0:1.0:0.0:0.0	.	1020;1021	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	I	1021;1021;1021;802;693;693	ENSP00000396010:T1021I;ENSP00000380602:T1021I;ENSP00000413642:T1021I;ENSP00000351267:T802I;ENSP00000380600:T693I;ENSP00000392077:T693I	ENSP00000351267:T802I	T	+	2	0	CNTN4	3072885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.834000	0.75339	2.591000	0.87537	0.591000	0.81541	ACA	-	NULL		0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	protein_coding	OTTHUMT00000239236.2	C		-		3097885	1	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3097885	C	T	3097885	3	4	196	1	0	0	0	0	1	0	0	0	3645	478	17	2	3148	2	CNTN4	3	3097885	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	3097885	194924545	445	13717	238	2									
TTLL3	26140	genome.wustl.edu	37	chr3	9876576	9876576	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaggtggcacccagcatCctgaagccaagaaaggtggg	13	10	1	2	rs539081979		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:9876576C>T	ENST00000547186.1	+	12	2124	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000430793.1_Silent_p.I424I|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Silent_p.I779I|ARPC4-TTLL3_ENST00000397256.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	636					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACCCAGCATCCTGAAGCCAA	0.612													C|||	1	0.000199681	0	0	5008	,	,		20539	0		0	False		,,,				2504	0.001																0								ENSG00000214021						82	84	83					3																	9876576		2203	4300	6503	TTLL3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1908C>T	3.37:g.9876576C>T		Somatic	0	36	0		0.52429534266604	137	37.16	81	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP							pfam_TTL/TTLL_fam	p.I779	ENST00000547186.1	37	c.2337		3																																																																																			-	NULL		0.612	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	protein_coding		C	NM_001025930.2	-		9876576	1	no_errors	ENST00000426895	ensembl	human	known	74_37	silent	SNP	0.154	T	T	9876576	C	T	9876576	2	4	196	1	0	0	0	0	0	0	0	1	16735	845	30	2		2	TTLL3	3	9876576	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6778691	9876576	188145854	446	13718											
CIDEC	63924	genome.wustl.edu	37	chr3	9918765	9918765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgaggaggaggtcCtcaagactgtaagccatgat	11	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:9918765C>T	ENST00000336832.2	-	3	331	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CIDEC_ENST00000443115.1_Silent_p.E64E|CIDEC_ENST00000455015.1_Intron|CIDEC_ENST00000430427.1_Silent_p.E64E|CIDEC_ENST00000383817.1_Silent_p.E64E|CIDEC_ENST00000423850.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	64	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GGAGGAGGTCCTCAAGACTGT	0.632																																																	0								ENSG00000187288						56	43	47					3																	9918765		2158	4214	6372	CIDEC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.192G>A	3.37:g.9918765C>T		Somatic	0	20	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	C9JMN7|Q67DW9|Q9GZY9	Silent	SNP							pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.E64	ENST00000336832.2	37	c.192	CCDS2587.1	3																																																																																			-	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom		0.632	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CIDEC	protein_coding	OTTHUMT00000250334.1	C	NM_022094	-		9918765	-1	no_errors	ENST00000336832	ensembl	human	known	74_37	silent	SNP	0.238	T	T	9918765	C	T	9918765	2	4	196	1	0	0	0	0	0	0	0	1	3429	680	24	2		2	CIDEC	3	9918765	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	42189	9918765	188103665	447	13719											
ATP2B2	491	genome.wustl.edu	37	chr3	10491104	10491104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgatcttgaccacagCctcagtgccccgcagctcca	7	18	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:10491104C>T	ENST00000352432.4	-	1	193	c.124G>A	c.(124-126)Gct>Act	p.A42T	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A42T|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A42T|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A42T|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A42T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	42					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						TTGACCACAGCCTCAGTGCCC	0.547																																					Ovarian(125;1619 1709 15675 19819 38835)												0								ENSG00000157087						102	93	96					3																	10491104		2203	4300	6503	ATP2B2	SO:0001583	missense	0			-	HGNC	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.124G>A	3.37:g.10491104C>T	ENSP00000324172:p.Ala42Thr	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	49	33.78	O00766|Q12994|Q16818	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.A42T	ENST00000352432.4	37	c.124	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.085063	0.94100	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	D;D;D;D;D	0.92495	-3.05;-3.03;-3.03;-3.05;-3.04	4.77	4.77	0.60923	.	0.069239	0.56097	D	0.000026	D	0.95689	0.8598	M	0.79614	2.46	0.58432	D	0.999999	D;B;P	0.76494	0.999;0.246;0.935	D;B;P	0.80764	0.994;0.196;0.76	D	0.96107	0.9074	10	0.66056	D	0.02	-16.5668	15.2863	0.73831	0.0:1.0:0.0:0.0	.	42;54;42	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	T	42;42;42;42;42;8;42	ENSP00000324172:A42T;ENSP00000373311:A42T;ENSP00000380267:A42T;ENSP00000353414:A42T;ENSP00000344677:A42T	ENSP00000342954:A42T	A	-	1	0	ATP2B2	10466104	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.711000	0.84669	2.192000	0.70111	0.462000	0.41574	GCT	-	NULL		0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	protein_coding	OTTHUMT00000250576.2	C	NM_001683	-		10491104	-1	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10491104	C	T	10491104	3	4	196	1	0	0	0	0	1	0	0	0	1140	739	26	2	3695	2	ATP2B2	3	10491104	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	572339	10491104	187531326	448	13720											
CAND2	23066	genome.wustl.edu	37	chr3	12858604	12858604	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacagtgacccaggccCagccagcctctttggtggag	12	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:12858604C>T	ENST00000456430.2	+	10	2214	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.Q632*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	725					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GACCCAGGCCCAGCCAGCCTC	0.662																																					GBM(43;676 868 1633 6395 37496)												0								ENSG00000144712						24	26	25					3																	12858604		2155	4264	6419	CAND2	SO:0001587	stop_gained	0			-	HGNC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2173C>T	3.37:g.12858604C>T	ENSP00000387641:p.Gln725*	Somatic	0	9	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	B9EGM9|E9KL24	Nonsense_Mutation	SNP							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.Q725*	ENST00000456430.2	37	c.2173	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.122003	0.97300	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	.	.	.	4.98	4.98	0.66077	.	0.204103	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.8656	9.7083	0.40229	0.0:0.9044:0.0:0.0956	.	.	.	.	X	632;725	.	ENSP00000295989:Q632X	Q	+	1	0	CAND2	12833604	0.995000	0.38212	1.000000	0.80357	0.567000	0.35839	2.402000	0.44521	2.451000	0.82905	0.561000	0.74099	CAG	-	superfamily_ARM-type_fold		0.662	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	protein_coding	OTTHUMT00000339856.4	C	XM_371617	-		12858604	1	no_errors	ENST00000456430	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	12858604	C	T	12858604	4	4	196	1	0	0	0	0	0	1	0	0	2618	595	21	2	2211	2	CAND2	3	12858604	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2367500	12858604	185163826	449	13721											
CAND2	23066	genome.wustl.edu	37	chr3	12858728	12858728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaggccctggtagGgacccgtcccccgtgtgtgg	14	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:12858728G>A	ENST00000456430.2	+	10	2338	c.2297G>A	c.(2296-2298)gGg>gAg	p.G766E	CAND2_ENST00000295989.5_Missense_Mutation_p.G673E	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	766					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCTGGTAGGGACCCGTCCC	0.642																																					GBM(43;676 868 1633 6395 37496)												0								ENSG00000144712						35	39	38					3																	12858728		2041	4192	6233	CAND2	SO:0001583	missense	0			-	HGNC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2297G>A	3.37:g.12858728G>A	ENSP00000387641:p.Gly766Glu	Somatic	0	23	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	B9EGM9|E9KL24	Missense_Mutation	SNP							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.G766E	ENST00000456430.2	37	c.2297	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893115	0.33442	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.49720	0.77;0.77	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.467375	0.21450	N	0.074348	T	0.45875	0.1364	N	0.19112	0.55	0.80722	D	1	B;D	0.89917	0.138;1.0	B;D	0.87578	0.065;0.998	T	0.38178	-0.9673	10	0.02654	T	1	-38.2037	10.6463	0.45621	0.0:0.0:0.8082:0.1918	.	766;673	O75155;O75155-2	CAND2_HUMAN;.	E	673;766	ENSP00000295989:G673E;ENSP00000387641:G766E	ENSP00000295989:G673E	G	+	2	0	CAND2	12833728	0.998000	0.40836	0.997000	0.53966	0.964000	0.63967	3.675000	0.54605	2.276000	0.75962	0.511000	0.50034	GGG	-	superfamily_ARM-type_fold		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	protein_coding	OTTHUMT00000339856.4	G	XM_371617	-		12858728	1	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	SNP	0.943	A	A	12858728	G	A	12858728	3	1	196	1	0	0	0	0	1	0	0	0	2618	1232	43	2	2335	2	CAND2	3	12858728	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	124	12858728	185163702	450	13722											
C3orf20	84077	genome.wustl.edu	37	chr3	14813645	14813645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgagtcagaagatatccaagGaagcagctcctcattggccc	10	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:14813645G>A	ENST00000253697.3	+	16	3019	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E	C3orf20_ENST00000412910.1_Missense_Mutation_p.G734E|C3orf20_ENST00000435614.1_Missense_Mutation_p.G734E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	856						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GATATCCAAGGAAGCAGCTCC	0.552																																																	0								ENSG00000131379						132	119	123					3																	14813645		2203	4300	6503	C3orf20	SO:0001583	missense	0			-	HGNC	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2567G>A	3.37:g.14813645G>A	ENSP00000253697:p.Gly856Glu	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	65	13.33	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP							NULL	p.G856E	ENST00000253697.3	37	c.2567	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821096	0.32237	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.19669	2.43;2.13;2.13	2.95	2.95	0.34219	.	0.000000	0.38492	N	0.001664	T	0.14874	0.0359	L	0.32530	0.975	0.37244	D	0.906274	B;B	0.19935	0.04;0.04	B;B	0.23018	0.043;0.043	T	0.10245	-1.0638	10	0.29301	T	0.29	-12.6383	9.6058	0.39632	0.0:0.0:1.0:0.0	.	734;856	Q8ND61-2;Q8ND61	.;CC020_HUMAN	E	856;734;734	ENSP00000253697:G856E;ENSP00000402933:G734E;ENSP00000396081:G734E	ENSP00000253697:G856E	G	+	2	0	C3orf20	14788649	1.000000	0.71417	0.991000	0.47740	0.067000	0.16453	0.394000	0.20834	1.957000	0.56846	0.491000	0.48974	GGA	-	NULL		0.552	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	protein_coding	OTTHUMT00000340586.1	G	NM_032137	-		14813645	1	no_errors	ENST00000253697	ensembl	human	known	74_37	missense	SNP	0.994	A	A	14813645	G	A	14813645	3	1	196	1	0	0	0	0	1	0	0	0	2215	1174	41	2	2621	2	C3orf20	3	14813645	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1954917	14813645	183208785	451	13723											
TBC1D5	9779	genome.wustl.edu	37	chr3	17448008	17448008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtttacaaatagttcttCccattctttcctatatgaaa	4	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:17448008C>T	ENST00000253692.7	-	5	1842	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E60K|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E12K|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E60K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	60						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATAGTTCTTCCCATTCTTTC	0.388																																																	0								ENSG00000131374						150	140	143					3																	17448008		2203	4300	6503	TBC1D5	SO:0001583	missense	0			-	HGNC	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.178G>A	3.37:g.17448008C>T	ENSP00000253692:p.Glu60Lys	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	A6NP25|C9JP52	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E60K	ENST00000253692.7	37	c.178	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860982	0.51482	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863;ENST00000434420	T;T;T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.51	5.51	0.81932	Rab-GAP/TBC domain (1);	0.136125	0.64402	D	0.000003	T	0.24699	0.0599	L	0.54323	1.7	0.58432	D	0.999994	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.14578	0.004;0.011;0.007	T	0.05162	-1.0902	10	0.20519	T	0.43	-15.838	19.7818	0.96418	0.0:1.0:0.0:0.0	.	12;60;60	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	K	60;60;60;12;60;60;60;60;60;60;60;60	ENSP00000253692:E60K;ENSP00000398127:E60K;ENSP00000402935:E60K;ENSP00000411925:E12K;ENSP00000396239:E60K;ENSP00000387395:E60K;ENSP00000399967:E60K;ENSP00000410596:E60K;ENSP00000393882:E60K;ENSP00000424998:E60K;ENSP00000415379:E60K;ENSP00000414159:E60K	ENSP00000253692:E60K	E	-	1	0	TBC1D5	17423012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.248000	0.65421	2.736000	0.93811	0.655000	0.94253	GAA	-	superfamily_Rab-GTPase-TBC_dom		0.388	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	protein_coding	OTTHUMT00000340301.3	C	NM_014744	-		17448008	-1	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17448008	C	T	17448008	3	4	196	1	0	0	0	0	1	0	0	0	15630	864	30	2	2351	2	TBC1D5	3	17448008	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2634363	17448008	180574422	452	13724											
KCNH8	131096	genome.wustl.edu	37	chr3	19575314	19575314	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggtgcatctctccacattCagattctacgttgacgcctc	7	13	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:19575314C>T	ENST00000328405.2	+	16	3313	c.3047C>T	c.(3046-3048)tCa>tTa	p.S1016L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1016	Ser-rich.				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						TCTCCACATTCAGATTCTACG	0.443																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						253	246	248					3																	19575314		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	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.3047C>T	3.37:g.19575314C>T	ENSP00000328813:p.Ser1016Leu	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	B7Z2I7|Q59GQ6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.S1016L	ENST00000328405.2	37	c.3047	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177809	0.78564	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.72	5.72	0.89469	.	0.000000	0.27482	U	0.019174	D	0.98966	0.9648	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.99802	1.1036	9	.	.	.	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	1016	Q96L42	KCNH8_HUMAN	L	1016	ENSP00000328813:S1016L	.	S	+	2	0	KCNH8	19550318	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	4.078000	0.57606	2.703000	0.92315	0.655000	0.94253	TCA	-	NULL		0.443	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	C	NM_144633	-		19575314	1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19575314	C	T	19575314	3	4	196	1	0	0	0	0	1	0	0	0	8040	838	29	2	3109	2	KCNH8	3	19575314	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2127306	19575314	178447116	453	13725											
KCNH8	131096	genome.wustl.edu	37	chr3	19575380	19575380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttctgtctgctcctcttCggaaacatctttgcacctag	6	13	5	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:19575380C>T	ENST00000328405.2	+	16	3379	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1038	Ser-rich.				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						TGCTCCTCTTCGGAAACATCT	0.468																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						145	140	142					3																	19575380		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	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.3113C>T	3.37:g.19575380C>T	ENSP00000328813:p.Ser1038Leu	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	B7Z2I7|Q59GQ6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.S1038L	ENST00000328405.2	37	c.3113	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209570	0.58343	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.5	5.5	0.81552	.	0.000000	0.28279	U	0.015928	D	0.98943	0.9641	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.99840	1.1061	9	.	.	.	.	19.3841	0.94550	0.0:1.0:0.0:0.0	.	1038	Q96L42	KCNH8_HUMAN	L	1038	ENSP00000328813:S1038L	.	S	+	2	0	KCNH8	19550384	0.994000	0.37717	0.759000	0.31340	0.366000	0.29705	5.677000	0.68142	2.590000	0.87494	0.655000	0.94253	TCG	-	NULL		0.468	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	C	NM_144633	-		19575380	1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	0.982	T	T	19575380	C	T	19575380	3	4	196	1	0	0	0	0	1	0	0	0	8040	893	31	1	3175	1	KCNH8	3	19575380	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	66	19575380	178447050	454	13726											
SLC4A7	9497	genome.wustl.edu	37	chr3	27431472	27431472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttatcacccataaaaGgaccaaacaagtaagctgaa	5	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:27431472G>A	ENST00000295736.5	-	22	3353	c.3283C>T	c.(3283-3285)Ctt>Ttt	p.L1095F	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L1091F|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L1087F|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L976F|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L1104F|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L1091F|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L645F|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L971F|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L980F|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L976F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1095					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACCCATAAAAGGACCAAACAA	0.388																																																	0								ENSG00000033867						114	118	117					3																	27431472		2203	4300	6503	SLC4A7	SO:0001583	missense	0			-	HGNC	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3283C>T	3.37:g.27431472G>A	ENSP00000295736:p.Leu1095Phe	Somatic	0	81	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	68	35.85	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.L1104F	ENST00000295736.5	37	c.3310	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885582	0.72410	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.52	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.999;0.999;0.988;1.0;0.999;0.999	T	0.77289	-0.2643	10	0.72032	D	0.01	.	10.4806	0.44691	0.0693:0.0:0.7965:0.1342	.	1091;976;1087;1091;1104;645;971;1095;976	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	F	646;1095;971;1104;1091;976;1087;976;1091;980;645;991	ENSP00000411031:L646F;ENSP00000295736:L1095F;ENSP00000416368:L971F;ENSP00000390394:L1104F;ENSP00000414797:L1091F;ENSP00000394252:L976F;ENSP00000406605:L1087F;ENSP00000407382:L976F;ENSP00000406804:L1091F;ENSP00000395336:L980F;ENSP00000373429:L645F;ENSP00000388703:L991F	ENSP00000295736:L1095F	L	-	1	0	SLC4A7	27406476	1.000000	0.71417	0.006000	0.13384	0.944000	0.59088	4.037000	0.57311	0.685000	0.31468	0.650000	0.86243	CTT	-	tigrfam_HCO3_transpt_euk		0.388	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	protein_coding	OTTHUMT00000341230.2	G	NM_003615	-		27431472	-1	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	SNP	0.989	A	A	27431472	G	A	27431472	3	1	196	1	0	0	0	0	1	0	0	0	14666	1000	35	2	377	2	SLC4A7	3	27431472	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7856092	27431472	170590958	455	13727											
STT3B	201595	genome.wustl.edu	37	chr3	31658539	31658539	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagctgcaggtgctgtgttCcttagtgtcatctatttgac	10	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:31658539C>T	ENST00000295770.2	+	7	1304	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	365					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						GTGCTGTGTTCCTTAGTGTCA	0.373																																																	0								ENSG00000163527						199	199	199					3																	31658539		2203	4300	6503	STT3B	SO:0001819	synonymous_variant	0			-	HGNC	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.1095C>T	3.37:g.31658539C>T		Somatic	0	33	0		0.52429534266604	7	20	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	Q96JZ4|Q96KY7	Silent	SNP							pfam_Oligo_trans_STT3	p.F365	ENST00000295770.2	37	c.1095	CCDS2650.1	3																																																																																			-	pfam_Oligo_trans_STT3		0.373	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	protein_coding	OTTHUMT00000253166.2	C	NM_178862	-		31658539	1	no_errors	ENST00000295770	ensembl	human	known	74_37	silent	SNP	1.000	T	T	31658539	C	T	31658539	2	4	196	1	0	0	0	0	0	0	0	1	15341	854	30	2		2	STT3B	3	31658539	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4227067	31658539	166363891	456	13728											
SUSD5	26032	genome.wustl.edu	37	chr3	33194381	33194381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagtaggcacaggacGgtgacaatggtggcgatcac	15	9	1	1	rs112313653		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:33194381G>A	ENST00000309558.3	-	5	2160	c.1743C>T	c.(1741-1743)acC>acT	p.T581T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	581					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			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						GGCACAGGACGGTGACAATGG	0.612																																																	0								ENSG00000173705	G		0,4406		0,0,2203	57	61	60		1743	-11.6	0	3	dbSNP_132	60	4,8592	3.0+/-9.4	0,4,4294	no	coding-synonymous	SUSD5	NM_015551.1		0,4,6497	AA,AG,GG		0.0465,0.0,0.0308		581/630	33194381	4,12998	2203	4298	6501	SUSD5	SO:0001819	synonymous_variant	0			-	HGNC	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.1743C>T	3.37:g.33194381G>A		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	25	41.86		Silent	SNP							pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.T581	ENST00000309558.3	37	c.1743	CCDS46787.1	3																																																																																			-	NULL		0.612	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	protein_coding	OTTHUMT00000341902.1	G	XM_171054	rs112313653		33194381	-1	no_errors	ENST00000309558	ensembl	human	known	74_37	silent	SNP	0.004	A	A	33194381	G	A	33194381	2	1	196	1	0	0	0	0	0	0	0	1	15418	1103	39	1		1	SUSD5	3	33194381	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1535842	33194381	164828049	457	13729											
CLASP2	23122	genome.wustl.edu	37	chr3	33614734	33614734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatatatgtaggaataCtaccatttcgagaactatag	7	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:33614734C>T	ENST00000468888.2	-	26	2640	c.2594G>A	c.(2593-2595)aGt>aAt	p.S865N	CLASP2_ENST00000461133.3_Missense_Mutation_p.S623N|CLASP2_ENST00000399362.4_Missense_Mutation_p.S864N|CLASP2_ENST00000480013.1_Missense_Mutation_p.S644N|CLASP2_ENST00000359576.5_Missense_Mutation_p.S856N|CLASP2_ENST00000307312.7_Missense_Mutation_p.S345N|CLASP2_ENST00000539981.1_Missense_Mutation_p.S634N			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	644					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGTAGGAATACTACCATTTCG	0.438																																																	0								ENSG00000163539						273	255	260					3																	33614734		1956	4156	6112	CLASP2	SO:0001583	missense	0			-	HGNC	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2594G>A	3.37:g.33614734C>T	ENSP00000419974:p.Ser865Asn	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP							pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S864N	ENST00000468888.2	37	c.2591		3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031340	0.75504	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T	0.20332	2.08;2.09;2.1	5.74	5.74	0.90152	Armadillo-type fold (1);	0.091793	0.85682	D	0.000000	T	0.18467	0.0443	L	0.34521	1.04	0.40925	D	0.984347	B;P;B	0.35272	0.411;0.493;0.161	B;B;B	0.35278	0.051;0.053;0.199	T	0.04053	-1.0981	10	0.22706	T	0.39	-16.3111	16.5445	0.84426	0.0:0.8696:0.1304:0.0	.	644;856;864	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	N	865;864;856;345;634;644;623;155	ENSP00000419974:S865N;ENSP00000382297:S864N;ENSP00000352581:S856N	ENSP00000304743:S345N	S	-	2	0	CLASP2	33589738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.880000	0.98712	0.650000	0.86243	AGT	-	superfamily_ARM-type_fold		0.438	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	protein_coding	OTTHUMT00000344320.4	C	NM_001207044	-		33614734	-1	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33614734	C	T	33614734	3	4	196	1	0	0	0	0	1	0	0	0	3457	565	20	2	2009	2	CLASP2	3	33614734	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	420353	33614734	164407696	458	13730											
ARPP21	10777	genome.wustl.edu	37	chr3	35729275	35729275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttttccagcctgcaagaGgaggataaatctaggaaaga	11	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:35729275G>A	ENST00000187397.4	+	6	762	c.306G>A	c.(304-306)gaG>gaA	p.E102E	ARPP21_ENST00000444190.1_Silent_p.E102E|ARPP21_ENST00000458225.1_Silent_p.E102E|ARPP21_ENST00000417925.1_Silent_p.E102E|ARPP21_ENST00000337271.5_Silent_p.E102E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	102					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCTGCAAGAGGAGGATAAAT	0.348																																																	0								ENSG00000172995						65	70	68					3																	35729275		2199	4296	6495	ARPP21	SO:0001819	synonymous_variant	0			-	HGNC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.306G>A	3.37:g.35729275G>A		Somatic	0	139	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	114	36.96	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E102	ENST00000187397.4	37	c.306	CCDS2661.1	3																																																																																			-	NULL		0.348	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	protein_coding	OTTHUMT00000253334.2	G	NM_198399	-		35729275	1	no_errors	ENST00000417925	ensembl	human	known	74_37	silent	SNP	1.000	A	A	35729275	G	A	35729275	2	1	196	1	0	0	0	0	0	0	0	1	978	991	35	2		2	ARPP21	3	35729275	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2114541	35729275	162293155	459	13731											
ARPP21	10777	genome.wustl.edu	37	chr3	35763105	35763105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcgtactccaggggcaacaGagatggctcagggagaacat	14	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:35763105G>A	ENST00000187397.4	+	14	1460	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARPP21_ENST00000444190.1_Missense_Mutation_p.R281K|ARPP21_ENST00000458225.1_Missense_Mutation_p.R301K|ARPP21_ENST00000417925.1_Missense_Mutation_p.R301K|ARPP21_ENST00000337271.5_Missense_Mutation_p.R281K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	335					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGGGGCAACAGAGATGGCTCA	0.532																																																	0								ENSG00000172995						49	46	47					3																	35763105		2203	4300	6503	ARPP21	SO:0001583	missense	0			-	HGNC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1004G>A	3.37:g.35763105G>A	ENSP00000187397:p.Arg335Lys	Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R301K	ENST00000187397.4	37	c.902	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748398	0.49257	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.91;1.84	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.28274	0.84	0.44871	D	0.997883	D;D;D	0.61080	0.981;0.979;0.989	P;P;D	0.63703	0.854;0.827;0.917	T	0.01711	-1.1290	10	0.07175	T	0.84	-18.4735	12.5944	0.56461	0.0772:0.0:0.9228:0.0	.	301;335;281	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	K	301;281;281;335;301	ENSP00000414351:R301K;ENSP00000337792:R281K;ENSP00000405276:R281K;ENSP00000187397:R335K;ENSP00000412326:R301K	ENSP00000187397:R335K	R	+	2	0	ARPP21	35738109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.815000	0.69215	2.720000	0.93068	0.650000	0.86243	AGA	-	NULL		0.532	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	protein_coding	OTTHUMT00000253334.2	G	NM_198399	-		35763105	1	no_errors	ENST00000417925	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35763105	G	A	35763105	3	1	196	1	0	0	0	0	1	0	0	0	978	942	33	2	1063	2	ARPP21	3	35763105	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	33830	35763105	162259325	460	13732											
EPM2AIP1	9852	genome.wustl.edu	37	chr3	37033458	37033458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgtttgtctgagaagtGgactgttgttgcccctactg	11	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:37033458G>A	ENST00000322716.5	-	1	1337	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	371					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.H371N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCTGAGAAGTGGACTGTTGTT	0.393																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000178567						194	196	196					3																	37033458		1897	4126	6023	EPM2AIP1	SO:0001583	missense	0			-	HGNC	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1111C>T	3.37:g.37033458G>A	ENSP00000406027:p.His371Tyr	Somatic	0	32	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	O94866|Q9H3L3	Missense_Mutation	SNP							NULL	p.H371Y	ENST00000322716.5	37	c.1111	CCDS46790.1	3	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220533	0.58560	.	.	ENSG00000178567	ENST00000322716	T	0.30448	1.53	4.64	4.64	0.57946	.	.	.	.	.	T	0.18841	0.0452	N	0.03608	-0.345	0.28825	N	0.897473	P	0.52316	0.952	P	0.50049	0.629	T	0.02404	-1.1164	9	0.02654	T	1	-20.128	15.051	0.71867	0.0:0.0:1.0:0.0	.	371	Q7L775	EPMIP_HUMAN	Y	371	ENSP00000406027:H371Y	ENSP00000406027:H371Y	H	-	1	0	EPM2AIP1	37008462	0.971000	0.33674	0.999000	0.59377	0.924000	0.55760	3.238000	0.51352	2.395000	0.81488	0.655000	0.94253	CAC	-	NULL		0.393	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	protein_coding	OTTHUMT00000470593.1	G	NM_014805	-		37033458	-1	no_errors	ENST00000322716	ensembl	human	known	74_37	missense	SNP	0.997	A	A	37033458	G	A	37033458	3	1	196	1	0	0	0	0	1	0	0	0	5186	1348	47	2	716	2	EPM2AIP1	3	37033458	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1270353	37033458	160988972	461	13733											
VILL	50853	genome.wustl.edu	37	chr3	38047358	38047358	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaggagtacctgaagactCacccagcagggaggagcccg	14	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38047358C>T	ENST00000283713.6	+	17	2292	c.2026C>T	c.(2026-2028)Cac>Tac	p.H676Y	VILL_ENST00000383759.2_Missense_Mutation_p.H676Y|VILL_ENST00000465644.1_Missense_Mutation_p.H394Y			O15195	VILL_HUMAN	villin-like	676					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGAAGACTCACCCAGCAGG	0.617																																																	0								ENSG00000136059						92	96	95					3																	38047358		2203	4300	6503	VILL	SO:0001583	missense	0			-	HGNC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2026C>T	3.37:g.38047358C>T	ENSP00000283713:p.His676Tyr	Somatic	0	29	0		0.52429534266604	25	25.71	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.H676Y	ENST00000283713.6	37	c.2026	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142356	0.77888	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.55052	0.54;0.54;0.54	4.43	4.43	0.53597	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.81802	2.56	0.50632	D	0.999881	D	0.89917	1.0	D	0.91635	0.999	T	0.79320	-0.1852	10	0.72032	D	0.01	-28.7684	17.0212	0.86434	0.0:1.0:0.0:0.0	.	676	O15195	VILL_HUMAN	Y	676;676;662;394	ENSP00000283713:H676Y;ENSP00000373266:H676Y;ENSP00000422096:H394Y	ENSP00000283713:H676Y	H	+	1	0	VILL	38022362	1.000000	0.71417	0.995000	0.50966	0.692000	0.40212	7.673000	0.83973	2.183000	0.69458	0.462000	0.41574	CAC	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin		0.617	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	protein_coding	OTTHUMT00000253360.3	C	NM_015873	-		38047358	1	no_errors	ENST00000283713	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38047358	C	T	38047358	3	4	196	1	0	0	0	0	1	0	0	0	17172	826	29	2	2088	2	VILL	3	38047358	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1013900	38047358	159975072	462	13734											
SCN5A	6331	genome.wustl.edu	37	chr3	38645322	38645322	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccacagtgctgttctTtttgccatggagggcgtggc	14	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38645322T>A	ENST00000333535.4	-	12	1920	c.1771A>T	c.(1771-1773)Aag>Tag	p.K591*	SCN5A_ENST00000449557.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.K591*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.K591*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.K591*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	591					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCTGTTCTTTTTGCCATGG	0.657																																																	0								ENSG00000183873						80	85	83					3																	38645322		1989	4182	6171	SCN5A	SO:0001587	stop_gained	0			-	HGNC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1771A>T	3.37:g.38645322T>A	ENSP00000328968:p.Lys591*	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	32	44.83	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.K591*	ENST00000333535.4	37	c.1771	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	39	7.740079	0.98462	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.12	4.12	0.48240	.	0.287635	0.34362	N	0.004023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.28	0.60208	0.0:0.0:0.0:1.0	.	.	.	.	X	591	.	ENSP00000328968:K591X	K	-	1	0	SCN5A	38620326	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.238000	0.51352	1.728000	0.51552	0.459000	0.35465	AAG	-	pfam_DUF3451		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	T	NM_198056	-		38645322	-1	no_errors	ENST00000333535	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	38645322	T	A	38645322	4	1	196	1	0	0	0	0	0	1	0	0	13930	1850	64	5	4347	5	SCN5A	3	38645322	Nonsense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	597964	38645322	159377108	463	13735											
SCN10A	6336	genome.wustl.edu	37	chr3	38768108	38768108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcttacctgtcctttggGgatcacttcctgctggaagc	9	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38768108G>A	ENST00000449082.2	-	16	3075	c.3076C>T	c.(3076-3078)Ccc>Tcc	p.P1026S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1026					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTCCTTTGGGGATCACTTCC	0.542																																																	0								ENSG00000185313						80	68	72					3																	38768108		2203	4300	6503	SCN10A	SO:0001583	missense	0			-	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3076C>T	3.37:g.38768108G>A	ENSP00000390600:p.Pro1026Ser	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A6NDQ1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P1026S	ENST00000449082.2	37	c.3076	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	7.798	0.713100	0.15306	.	.	ENSG00000185313	ENST00000449082	D	0.95238	-3.65	3.84	3.84	0.44239	Sodium ion transport-associated (1);	5.141420	0.00166	N	0.000006	T	0.81978	0.4937	N	0.00339	-1.615	0.09310	N	1	B	0.14438	0.01	B	0.18263	0.021	T	0.74057	-0.3787	10	0.20519	T	0.43	.	9.0417	0.36322	0.1139:0.0:0.8861:0.0	.	1026	Q9Y5Y9	SCNAA_HUMAN	S	1026	ENSP00000390600:P1026S	ENSP00000390600:P1026S	P	-	1	0	SCN10A	38743112	0.558000	0.26554	0.013000	0.15412	0.315000	0.28087	3.337000	0.52120	2.449000	0.82847	0.655000	0.94253	CCC	-	pfam_Na_trans_assoc		0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	G	NM_006514	-		38768108	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	SNP	0.004	A	A	38768108	G	A	38768108	3	1	196	1	0	0	0	0	1	0	0	0	13920	1232	43	2	2842	2	SCN10A	3	38768108	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	122786	38768108	159254322	464	13736											
SCN10A	6336	genome.wustl.edu	37	chr3	38768307	38768307	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgttggcagcaatgtggttCtcagccttggagctggagag	16	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38768307C>T	ENST00000449082.2	-	16	2876	c.2877G>A	c.(2875-2877)gaG>gaA	p.E959E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	959					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAATGTGGTTCTCAGCCTTGG	0.602																																																	0								ENSG00000185313						61	63	62					3																	38768307		2203	4300	6503	SCN10A	SO:0001819	synonymous_variant	0			-	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2877G>A	3.37:g.38768307C>T		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	A6NDQ1	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.E959	ENST00000449082.2	37	c.2877	CCDS33736.1	3																																																																																			-	pfam_Na_trans_assoc		0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	C	NM_006514	-		38768307	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	SNP	0.038	T	T	38768307	C	T	38768307	2	4	196	1	0	0	0	0	0	0	0	1	13920	912	32	2		2	SCN10A	3	38768307	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	199	38768307	159254123	465	13737											
SCN10A	6336	genome.wustl.edu	37	chr3	38835268	38835268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggatctagatcctccagGggctccccgatcagttctgc	10	14	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38835268G>A	ENST00000449082.2	-	1	233	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	78					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATCCTCCAGGGGCTCCCCGA	0.567																																																	0								ENSG00000185313						145	151	149					3																	38835268		2203	4300	6503	SCN10A	SO:0001819	synonymous_variant	0			-	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.234C>T	3.37:g.38835268G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	71	11.25	A6NDQ1	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P78	ENST00000449082.2	37	c.234	CCDS33736.1	3																																																																																			-	NULL		0.567	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	G	NM_006514	-		38835268	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	SNP	0.834	A	A	38835268	G	A	38835268	2	1	196	1	0	0	0	0	0	0	0	1	13920	1219	43	2		2	SCN10A	3	38835268	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	66961	38835268	159187162	466	13738											
SCN11A	11280	genome.wustl.edu	37	chr3	38936064	38936064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgcgctgtgcattaTcttcaccagaaaattcaacg	9	9	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38936064T>C	ENST00000302328.3	-	15	2993	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G	SCN11A_ENST00000456224.3_Missense_Mutation_p.D932G|SCN11A_ENST00000444237.2_Missense_Mutation_p.D932G|SCN11A_ENST00000450244.1_Missense_Mutation_p.D932G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	932					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGTGCATTATCTTCACCAGA	0.473																																																	0								ENSG00000168356						221	221	221					3																	38936064		2203	4300	6503	SCN11A	SO:0001583	missense	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2795A>G	3.37:g.38936064T>C	ENSP00000307599:p.Asp932Gly	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D932G	ENST00000302328.3	37	c.2795	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704786	0.30232	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.74	1.79	0.24919	Sodium ion transport-associated (1);	1.257310	0.05860	U	0.622750	T	0.81103	0.4753	L	0.60455	1.87	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.62315	-0.6880	10	0.35671	T	0.21	.	4.3914	0.11343	0.3054:0.0837:0.0:0.611	.	932	Q9UI33	SCNBA_HUMAN	G	932	ENSP00000307599:D932G;ENSP00000400945:D932G;ENSP00000416757:D932G;ENSP00000408028:D932G	ENSP00000307599:D932G	D	-	2	0	SCN11A	38911068	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.200000	0.17257	0.421000	0.25980	0.528000	0.53228	GAT	-	pfam_Na_trans_assoc		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	T	NM_014139	-		38936064	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	SNP	0.001	C	C	38936064	T	C	38936064	3	2	196	1	0	0	0	0	1	0	0	0	13921	1435	50	5	2628	5	SCN11A	3	38936064	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	100796	38936064	159086366	467	13739											
TTC21A	199223	genome.wustl.edu	37	chr3	39172547	39172547	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctggcaaaggtttacaaGagccataaaaaagaagctgt	10	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:39172547G>A	ENST00000431162.2	+	19	2678	c.2544G>A	c.(2542-2544)aaG>aaA	p.K848K	TTC21A_ENST00000301819.6_Silent_p.K849K|TTC21A_ENST00000440121.1_Silent_p.K800K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	848										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGGTTTACAAGAGCCATAAAA	0.413																																																	0								ENSG00000168026						77	72	73					3																	39172547		1881	4110	5991	TTC21A	SO:0001819	synonymous_variant	0			-	HGNC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2544G>A	3.37:g.39172547G>A		Somatic	0	40	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K849	ENST00000431162.2	37	c.2547	CCDS46800.1	3																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.413	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	protein_coding	OTTHUMT00000377829.1	G	NM_145755	-		39172547	1	no_errors	ENST00000301819	ensembl	human	known	74_37	silent	SNP	0.661	A	A	39172547	G	A	39172547	2	1	196	1	0	0	0	0	0	0	0	1	16694	933	33	2		2	TTC21A	3	39172547	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	236483	39172547	158849883	468	13740											
XIRP1	165904	genome.wustl.edu	37	chr3	39230562	39230562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaacttgcgggaggtGgcctggacgtcaccacacag	12	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:39230562G>T	ENST00000340369.3	-	2	603	c.375C>A	c.(373-375)gcC>gcA	p.A125A	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.A125A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	125					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)		TGCGGGAGGTGGCCTGGACGT	0.617																																																	0								ENSG00000168334						73	74	74					3																	39230562		2203	4300	6503	XIRP1	SO:0001819	synonymous_variant	0			-	HGNC	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.375C>A	3.37:g.39230562G>T		Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.82	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP							pfam_Actin-binding_Xin_repeat	p.A125	ENST00000340369.3	37	c.375	CCDS2683.1	3																																																																																			-	NULL		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	protein_coding	OTTHUMT00000254065.1	G	XM_093522	-		39230562	-1	no_errors	ENST00000340369	ensembl	human	known	74_37	silent	SNP	0.991	T	T	39230562	G	T	39230562	2	4	196	1	0	0	0	0	0	0	0	1	17436	1335	47	3		3	XIRP1	3	39230562	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	58015	39230562	158791868	469	13741											
MYRIP	25924	genome.wustl.edu	37	chr3	40275400	40275400	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccacagaagtcctgaaagtCatcaatgccacagaggagtt	9	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:40275400C>G	ENST00000302541.6	+	12	2298	c.1956C>G	c.(1954-1956)gtC>gtG	p.V652V	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.V465V|MYRIP_ENST00000444716.1_Silent_p.V652V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Silent_p.V563V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	652	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTGAAAGTCATCAATGCCA	0.498																																																	0								ENSG00000170011						90	87	88					3																	40275400		2203	4300	6503	MYRIP	SO:0001819	synonymous_variant	0			-	HGNC	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1956C>G	3.37:g.40275400C>G		Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	65	21.69	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP							pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.V652	ENST00000302541.6	37	c.1956	CCDS2689.1	3																																																																																			-	pfam_Myrip/Melanophilin		0.498	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	protein_coding	OTTHUMT00000254181.2	C	NM_015460	-		40275400	1	no_errors	ENST00000302541	ensembl	human	known	74_37	silent	SNP	1.000	G	G	40275400	C	G	40275400	2	3	196	1	0	0	0	0	0	0	0	1	10102	813	29	4		4	MYRIP	3	40275400	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1044838	40275400	157747030	470	13742											
NKTR	4820	genome.wustl.edu	37	chr3	42675116	42675116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaaaaggtcagttgattCcagtgctaaaagggaaaaac	10	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:42675116C>T	ENST00000232978.8	+	10	1006	c.818C>T	c.(817-819)tCc>tTc	p.S273F	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	273					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAGTTGATTCCAGTGCTAAA	0.393																																																	0								ENSG00000114857						113	117	115					3																	42675116		2203	4300	6503	NKTR	SO:0001583	missense	0			-	HGNC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.818C>T	3.37:g.42675116C>T	ENSP00000232978:p.Ser273Phe	Somatic	0	79	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	82	28.70		Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S273F	ENST00000232978.8	37	c.818	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781765	0.31502	.	.	ENSG00000114857	ENST00000232978	T	0.13196	2.61	5.63	4.57	0.56435	.	0.617378	0.16527	N	0.210550	T	0.10380	0.0254	N	0.22421	0.69	0.09310	N	1	B	0.23540	0.087	B	0.26693	0.072	T	0.12967	-1.0527	10	0.52906	T	0.07	-0.5573	9.6231	0.39734	0.0:0.7991:0.0:0.2009	.	273	P30414	NKTR_HUMAN	F	273	ENSP00000232978:S273F	ENSP00000232978:S273F	S	+	2	0	NKTR	42650120	0.011000	0.17503	0.743000	0.31040	0.725000	0.41563	0.669000	0.25142	2.644000	0.89710	0.557000	0.71058	TCC	-	NULL		0.393	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	protein_coding	OTTHUMT00000256642.2	C	NM_005385	-		42675116	1	no_errors	ENST00000232978	ensembl	human	known	74_37	missense	SNP	0.030	T	T	42675116	C	T	42675116	3	4	196	1	0	0	0	0	1	0	0	0	10450	855	30	2	852	2	NKTR	3	42675116	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2399716	42675116	155347314	471	13743											
ZNF445	353274	genome.wustl.edu	37	chr3	44496724	44496724	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccggagctccccaggcagGatgctcaggaactgttccag	12	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:44496724G>A	ENST00000396077.2	-	3	665	c.318C>T	c.(316-318)atC>atT	p.I106I	ZNF445_ENST00000425708.2_Silent_p.I106I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCCCAGGCAGGATGCTCAGGA	0.617																																																	0								ENSG00000185219						68	71	70					3																	44496724		2203	4300	6503	ZNF445	SO:0001819	synonymous_variant	0			-	HGNC	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.318C>T	3.37:g.44496724G>A		Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	84	16.00	Q3MJD1	Silent	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.I106	ENST00000396077.2	37	c.318	CCDS2713.1	3																																																																																			-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.617	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	protein_coding	OTTHUMT00000256647.2	G	NM_181489	-		44496724	-1	no_errors	ENST00000396077	ensembl	human	known	74_37	silent	SNP	1.000	A	A	44496724	G	A	44496724	2	1	196	1	0	0	0	0	0	0	0	1	17925	1164	41	2		2	ZNF445	3	44496724	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1821608	44496724	153525706	472	13744											
ZNF502	91392	genome.wustl.edu	37	chr3	44762543	44762543	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgctgaatcatgccttttCcaggaaggaggttttgggag	13	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:44762543C>T	ENST00000296091.4	+	4	490	c.234C>T	c.(232-234)ttC>ttT	p.F78F	ZNF502_ENST00000449836.1_Silent_p.F78F|ZNF502_ENST00000436624.2_Silent_p.F78F	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	78					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)		CATGCCTTTTCCAGGAAGGAG	0.388																																																	0								ENSG00000196653						66	67	66					3																	44762543		2203	4300	6503	ZNF502	SO:0001819	synonymous_variant	0			-	HGNC	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.234C>T	3.37:g.44762543C>T		Somatic	0	96	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	63	44.25		Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F78	ENST00000296091.4	37	c.234	CCDS2719.1	3																																																																																			-	NULL		0.388	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	protein_coding	OTTHUMT00000256744.4	C	NM_033210	-		44762543	1	no_errors	ENST00000296091	ensembl	human	known	74_37	silent	SNP	0.137	T	T	44762543	C	T	44762543	2	4	196	1	0	0	0	0	0	0	0	1	17957	854	30	2		2	ZNF502	3	44762543	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	265819	44762543	153259887	473	13745											
ZDHHC3	51304	genome.wustl.edu	37	chr3	44974451	44974451	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatgaagagagattccagtCtctgccatttcttccctgtt	7	11	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:44974451C>T	ENST00000424952.2	-	5	879				ZDHHC3_ENST00000296127.3_Silent_p.E214E|ZDHHC3_ENST00000342790.4_Intron	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3						protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AGATTCCAGTCTCTGCCATTT	0.493																																																	0								ENSG00000163812						177	174	175					3																	44974451		2203	4300	6503	ZDHHC3	SO:0001627	intron_variant	0			-	HGNC	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.610+158G>A	3.37:g.44974451C>T		Somatic	0	36	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	43	34.33	Q53A17|Q96BL0	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.E214	ENST00000424952.2	37	c.642	CCDS46811.1	3																																																																																			-	NULL		0.493	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	protein_coding	OTTHUMT00000347004.1	C	NM_016598	-		44974451	-1	no_errors	ENST00000296127	ensembl	human	known	74_37	silent	SNP	0.043	T	T	44974451	C	T	44974451	1	4	196	0	1	0	0	0	0	0	0	0	17623	912	32	2		2	ZDHHC3	3	44974451	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	211908	44974451	153047979	474	13746											
CXCR6	10663	genome.wustl.edu	37	chr3	45988819	45988819	+	Nonsense_Mutation	SNP	C	C	A													atcgcatacctgagggcctgCcttaaccctgtgctctatgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:45988819C>A	ENST00000458629.1	+	1	2309	c.846C>A	c.(844-846)tgC>tgA	p.C282*	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Nonsense_Mutation_p.C282*|CXCR6_ENST00000438735.1_Nonsense_Mutation_p.C282*|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Nonsense_Mutation_p.C282*			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	282					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGAGGGCCTGCCTTAACCCTG	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)												0								ENSG00000172215						120	101	107					3																	45988819		2203	4300	6503	CXCR6	SO:0001587	stop_gained	0			-	HGNC	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.846C>A	3.37:g.45988819C>A	ENSP00000395704:p.Cys282*	Somatic	0	58	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	O00575|Q9HCA5	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.C282*	ENST00000458629.1	37	c.846	CCDS2735.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009921	0.93346	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	.	.	.	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9544	0.47349	0.0:0.8503:0.0:0.1497	.	.	.	.	X	282	.	ENSP00000304414:C282X	C	+	3	2	CXCR6	45963823	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.542000	0.36137	1.542000	0.49330	-0.136000	0.14681	TGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CXCR6	protein_coding	OTTHUMT00000344395.1	C		-		45988819	1	no_errors	ENST00000304552	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	45988819	C	A	45988819	4	1	196	1	0	0	0	0	0	1	0	0	4097	747	26	3	848	3	CXCR6	3	45988819	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1014368	45988819	152033611	475	13747	239	2									
CXCR6	10663	genome.wustl.edu	37	chr3	45988820	45988820	+	Missense_Mutation	SNP	C	C	T													tcgcatacctgagggcctgcCttaaccctgtgctctatgcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:45988820C>T	ENST00000458629.1	+	1	2310	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.L283F|CXCR6_ENST00000438735.1_Missense_Mutation_p.L283F|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.L283F			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	283					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGGCCTGCCTTAACCCTGT	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)												0								ENSG00000172215						120	102	108					3																	45988820		2203	4300	6503	CXCR6	SO:0001583	missense	0			-	HGNC	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.847C>T	3.37:g.45988820C>T	ENSP00000395704:p.Leu283Phe	Somatic	0	59	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	O00575|Q9HCA5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.L283F	ENST00000458629.1	37	c.847	CCDS2735.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158794	0.78226	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.059660	0.64402	D	0.000002	T	0.66056	0.2751	M	0.82923	2.615	0.47037	D	0.999299	D	0.57899	0.981	P	0.56514	0.8	T	0.70579	-0.4833	10	0.87932	D	0	.	14.0786	0.64905	0.1507:0.8493:0.0:0.0	.	283	O00574	CXCR6_HUMAN	F	283	ENSP00000396218:L283F;ENSP00000304414:L283F;ENSP00000395704:L283F;ENSP00000396886:L283F	ENSP00000304414:L283F	L	+	1	0	CXCR6	45963824	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	1.276000	0.33156	2.832000	0.97577	0.655000	0.94253	CTT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CXCR6	protein_coding	OTTHUMT00000344395.1	C		-		45988820	1	no_errors	ENST00000304552	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45988820	C	T	45988820	3	4	196	1	0	0	0	0	1	0	0	0	4097	681	24	2	849	2	CXCR6	3	45988820	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	45988820	152033610	476	13748	239	2									
PTH1R	5745	genome.wustl.edu	37	chr3	46944150	46944150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgagatgctcttcaactCcttccaggtgcgcagtgctg	10	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:46944150C>T	ENST00000313049.5	+	12	1549	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PTH1R_ENST00000449590.1_Missense_Mutation_p.S449F|PTH1R_ENST00000418619.1_Missense_Mutation_p.S449F|PTH1R_ENST00000430002.2_Missense_Mutation_p.S449F			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	449					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|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 cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CTCTTCAACTCCTTCCAGGTG	0.587																																																	0								ENSG00000160801						83	73	76					3																	46944150		2203	4300	6503	PTH1R	SO:0001583	missense	0			-	HGNC		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1346C>T	3.37:g.46944150C>T	ENSP00000321999:p.Ser449Phe	Somatic	0	24	0		0.52429534266604	10	41.18	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	Q2M1U3	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.S449F	ENST00000313049.5	37	c.1346	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837046	0.91117	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;D	0.91351	0.45;0.45;0.45;0.45;0.45;-2.83	4.92	4.92	0.64577	GPCR, family 2-like (1);	.	.	.	.	D	0.96947	0.9003	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98149	1.0440	9	0.87932	D	0	.	17.2871	0.87145	0.0:1.0:0.0:0.0	.	449	Q03431	PTH1R_HUMAN	F	449;449;449;449;449;727;21	ENSP00000402723:S449F;ENSP00000411424:S449F;ENSP00000400977:S449F;ENSP00000413774:S449F;ENSP00000321999:S449F;ENSP00000396176:S21F	ENSP00000321999:S449F	S	+	2	0	PTH1R	46919154	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.845000	0.69437	2.553000	0.86117	0.655000	0.94253	TCC	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.587	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	protein_coding	OTTHUMT00000257481.1	C	NM_000316	-		46944150	1	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46944150	C	T	46944150	3	4	196	1	0	0	0	0	1	0	0	0	12764	855	30	2	1392	2	PTH1R	3	46944150	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	955330	46944150	151078280	477	13749											
NBEAL2	23218	genome.wustl.edu	37	chr3	47047004	47047004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctccgaccggcagttcCactcggtggcggcagcctgg	14	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47047004C>T	ENST00000450053.3	+	41	6765	c.6586C>T	c.(6586-6588)Cac>Tac	p.H2196Y	NBEAL2_ENST00000292309.5_Missense_Mutation_p.H2012Y|NBEAL2_ENST00000383740.2_Missense_Mutation_p.H475Y	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2196	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCGGCAGTTCCACTCGGTGGC	0.627																																																	0								ENSG00000160796						15	16	16					3																	47047004		1926	4130	6056	NBEAL2	SO:0001583	missense	0			-	HGNC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6586C>T	3.37:g.47047004C>T	ENSP00000415034:p.His2196Tyr	Somatic	0	50	0		0.52429534266604	23	14.81	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	53	32.05	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H2196Y	ENST00000450053.3	37	c.6586	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716302|4.716302	0.89205|0.89205	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550;ENST00000423436|ENST00000443829	T;T;T;T|.	0.80304|.	-1.36;-1.36;-1.36;-1.36|.	4.9|4.9	4.9|4.9	0.64082|0.64082	BEACH domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69815|0.69815	0.3153|0.3153	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	D;P|.	0.71674|.	0.998;0.594|.	D;B|.	0.80764|.	0.994;0.355|.	T|T	0.67484|0.67484	-0.5659|-0.5659	10|5	0.56958|.	D|.	0.05|.	.|.	16.8148|16.8148	0.85730|0.85730	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2012;2196|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	Y|L	2012;475;2196;139;23|564	ENSP00000292309:H2012Y;ENSP00000373246:H475Y;ENSP00000415034:H2196Y;ENSP00000415063:H23Y|.	ENSP00000292309:H2012Y|.	H|P	+|+	1|2	0|0	NBEAL2|NBEAL2	47022008|47022008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.552000|7.552000	0.82192|0.82192	2.544000|2.544000	0.85801|0.85801	0.655000|0.655000	0.94253|0.94253	CAC|CCA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	protein_coding	OTTHUMT00000344363.3	C	XM_291064	-		47047004	1	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47047004	C	T	47047004	3	4	196	1	0	0	0	0	1	0	0	0	10191	594	21	2	6748	2	NBEAL2	3	47047004	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	102854	47047004	150975426	478	13750											
SCAP	22937	genome.wustl.edu	37	chr3	47461103	47461103	+	Missense_Mutation	SNP	G	G	A													ccagggctccctcacccaatGggctctgttccgtcacctgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47461103G>A	ENST00000265565.5	-	13	2067	c.1655C>T	c.(1654-1656)cCa>cTa	p.P552L	SCAP_ENST00000545718.1_Missense_Mutation_p.P160L|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P297L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	552					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCACCCAATGGGCTCTGTTC	0.647																																					Pancreas(149;978 1908 29304 37806 46700)												0								ENSG00000114650						59	60	60					3																	47461103		2203	4300	6503	SCAP	SO:0001583	missense	0			-	HGNC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1655C>T	3.37:g.47461103G>A	ENSP00000265565:p.Pro552Leu	Somatic	0	51	0		0.52429534266604	33	40.35	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.88	Q8N2E0|Q8WUA1	Missense_Mutation	SNP							pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P552L	ENST00000265565.5	37	c.1655	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923237	0.92319	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80214	-1.35;-1.29;0.83	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.929	D	0.89507	0.3768	10	0.87932	D	0	-19.0351	17.2444	0.87023	0.0:0.0:1.0:0.0	.	297;552	F8W921;Q12770	.;SCAP_HUMAN	L	179;552;297;160	ENSP00000265565:P552L;ENSP00000416847:P297L;ENSP00000438956:P160L	ENSP00000265565:P552L	P	-	2	0	SCAP	47436107	1.000000	0.71417	0.944000	0.38274	0.718000	0.41266	9.085000	0.94083	2.405000	0.81733	0.462000	0.41574	CCA	-	NULL		0.647	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	protein_coding	OTTHUMT00000246872.2	G	NM_012235	-		47461103	-1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47461103	G	A	47461103	3	1	196	1	0	0	0	0	1	0	0	0	13885	1348	47	2	2228	2	SCAP	3	47461103	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	414099	47461103	150561327	479	13751	240	2									
SCAP	22937	genome.wustl.edu	37	chr3	47461104	47461104	+	Missense_Mutation	SNP	G	G	A													cagggctccctcacccaatgGgctctgttccgtcacctggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47461104G>A	ENST00000265565.5	-	13	2066	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	SCAP_ENST00000545718.1_Missense_Mutation_p.P160S|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P297S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	552					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCACCCAATGGGCTCTGTTCC	0.652																																					Pancreas(149;978 1908 29304 37806 46700)												0								ENSG00000114650						59	60	60					3																	47461104		2203	4300	6503	SCAP	SO:0001583	missense	0			-	HGNC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1654C>T	3.37:g.47461104G>A	ENSP00000265565:p.Pro552Ser	Somatic	0	53	0		0.52429534266604	35	40.98	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	50	32.43	Q8N2E0|Q8WUA1	Missense_Mutation	SNP							pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P552S	ENST00000265565.5	37	c.1654	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943735	0.92593	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.79845	-1.31;-1.26;0.87	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	L	0.50333	1.59	0.80722	D	1	P;P	0.42375	0.778;0.533	P;B	0.49085	0.6;0.277	D	0.84958	0.0875	10	0.66056	D	0.02	-19.0351	17.2444	0.87023	0.0:0.0:1.0:0.0	.	297;552	F8W921;Q12770	.;SCAP_HUMAN	S	179;552;297;160	ENSP00000265565:P552S;ENSP00000416847:P297S;ENSP00000438956:P160S	ENSP00000265565:P552S	P	-	1	0	SCAP	47436108	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	7.270000	0.78493	2.405000	0.81733	0.462000	0.41574	CCA	-	NULL		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	protein_coding	OTTHUMT00000246872.2	G	NM_012235	-		47461104	-1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47461104	G	A	47461104	3	1	196	1	0	0	0	0	1	0	0	0	13885	1232	43	2	2229	2	SCAP	3	47461104	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	47461104	150561326	480	13752	240	2									
CSPG5	10675	genome.wustl.edu	37	chr3	47618964	47618964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctggcccttgagggtcGggtgtgctgccccccaggtt	15	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47618964G>A	ENST00000383738.2	-	2	2650	c.552C>T	c.(550-552)ccC>ccT	p.P184P	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Silent_p.P184P|CSPG5_ENST00000456150.1_Silent_p.P46P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	184					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTGAGGGTCGGGTGTGCTGC	0.617																																																	0								ENSG00000114646						38	43	41					3																	47618964		2203	4300	6503	CSPG5	SO:0001819	synonymous_variant	0			-	HGNC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.552C>T	3.37:g.47618964G>A		Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	82	36.92	Q71M39|Q71M40	Silent	SNP							pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.P184	ENST00000383738.2	37	c.552	CCDS56253.1	3																																																																																			-	pfam_Chon_Sulph_att		0.617	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	protein_coding	OTTHUMT00000257489.1	G	NM_006574	-		47618964	-1	no_errors	ENST00000383738	ensembl	human	known	74_37	silent	SNP	0.385	A	A	47618964	G	A	47618964	2	1	196	1	0	0	0	0	0	0	0	1	3963	1103	39	1		1	CSPG5	3	47618964	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	157860	47618964	150403466	481	13753											
CAMP	820	genome.wustl.edu	37	chr3	48266856	48266856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattggcaaagagtttaaaaGaattgtccagagaatcaagg	11	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:48266856G>A	ENST00000576243.1	+	4	595	c.455G>A	c.(454-456)aGa>aAa	p.R152K	CAMP_ENST00000296435.2_Missense_Mutation_p.R155K			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	152					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGTTTAAAAGAATTGTCCAG	0.458																																																	0								ENSG00000164047						117	129	125					3																	48266856		2203	4300	6503	CAMP	SO:0001583	missense	0			-	HGNC	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"Endogenous ligands"	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.455G>A	3.37:g.48266856G>A	ENSP00000458149:p.Arg152Lys	Somatic	0	108	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	85	37.50	Q71SN9	Missense_Mutation	SNP							pfam_Cathelicidin,pfam_Cathlecidin_C	p.R155K	ENST00000576243.1	37	c.464		3	.	.	.	.	.	.	.	.	.	.	G	1.009	-0.688515	0.03328	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.51	-9.03	0.00737	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.006400	0.07982	N	0.985708	T	0.08891	0.0220	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	9	0.02654	T	1	0.4379	3.8082	0.08786	0.2433:0.2197:0.4295:0.1075	.	152	P49913	CAMP_HUMAN	K	152	.	ENSP00000296435:R152K	R	+	2	0	CAMP	48241860	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.934000	0.03955	-2.569000	0.00469	-0.340000	0.08031	AGA	-	pfam_Cathlecidin_C		0.458	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	CAMP	protein_coding		G	NM_004345	-		48266856	1	no_errors	ENST00000296435	ensembl	human	known	74_37	missense	SNP	0.000	A	A	48266856	G	A	48266856	3	1	196	1	0	0	0	0	1	0	0	0	2612	942	33	2	469	2	CAMP	3	48266856	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	647892	48266856	149755574	482	13754											
SLC25A20	788	genome.wustl.edu	37	chr3	48896046	48896046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatctctgaaaccattaGgatatttcccaggaggtgct	9	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:48896046G>A	ENST00000319017.4	-	8	935	c.737C>T	c.(736-738)cCt>cTt	p.P246L	SLC25A20_ENST00000430379.1_Missense_Mutation_p.P173L|SLC25A20_ENST00000544097.1_Missense_Mutation_p.P196L	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	246					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GAAACCATTAGGATATTTCCC	0.498																																																	0								ENSG00000178537						107	101	103					3																	48896046		2203	4300	6503	SLC25A20	SO:0001583	missense	0			-	HGNC	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"Solute carriers"	1421	protein-coding gene	gene with protein product	"carnitine-acylcarnitine carrier", "carnitine/acylcarnitine translocase"	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.737C>T	3.37:g.48896046G>A	ENSP00000326305:p.Pro246Leu	Somatic	0	65	0		0.52429534266604	46	17.86	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	55	35.29	B2R7F4|Q9UIQ2	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P246L	ENST00000319017.4	37	c.737	CCDS2779.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.092848	0.94149	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.77358	-1.09;-1.09;-1.09	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	L	0.54323	1.7	0.80722	D	1	D;D	0.63880	0.987;0.993	D;D	0.68039	0.95;0.955	T	0.78563	-0.2156	10	0.12766	T	0.61	-19.8974	19.3292	0.94278	0.0:0.0:1.0:0.0	.	173;246	C9JPE1;O43772	.;MCAT_HUMAN	L	173;246;196	ENSP00000388986:P173L;ENSP00000326305:P246L;ENSP00000438731:P196L	ENSP00000326305:P246L	P	-	2	0	SLC25A20	48871050	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.470000	0.97683	2.672000	0.90937	0.650000	0.86243	CCT	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.498	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A20	protein_coding	OTTHUMT00000257516.2	G	NM_000387	-		48896046	-1	no_errors	ENST00000319017	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48896046	G	A	48896046	3	1	196	1	0	0	0	0	1	0	0	0	14491	1000	35	2	176	2	SLC25A20	3	48896046	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	629190	48896046	149126384	483	13755											
ARIH2	10425	genome.wustl.edu	37	chr3	49005982	49005982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagtctcttgcatggCtcaggactgtccactccgta	10	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49005982C>T	ENST00000356401.4	+	7	893	c.554C>T	c.(553-555)gCt>gTt	p.A185V	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.A185V	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	185					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCTTGCATGGCTCAGGACTGT	0.507																																																	0								ENSG00000177479						149	139	142					3																	49005982		2203	4300	6503	ARIH2	SO:0001583	missense	0			-	HGNC	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.554C>T	3.37:g.49005982C>T	ENSP00000348769:p.Ala185Val	Somatic	0	43	0		0.52429534266604	28	25.64	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	47	38.96	Q9HBZ6|Q9UEM9	Missense_Mutation	SNP							pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.A185V	ENST00000356401.4	37	c.554	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.325508	0.95708	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	D;D	0.83673	-1.75;-1.75	5.95	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	M	0.65498	2.005	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.992	P;D;P	0.68192	0.714;0.956;0.818	D	0.89229	0.3576	10	0.40728	T	0.16	.	17.2612	0.87070	0.0:0.8744:0.1256:0.0	.	192;185;185	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	V	185;185;184;9	ENSP00000348769:A185V;ENSP00000403222:A185V	ENSP00000348769:A185V	A	+	2	0	ARIH2	48980986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	1.503000	0.48686	0.655000	0.94253	GCT	-	pfscan_Znf_RING		0.507	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	protein_coding	OTTHUMT00000257525.1	C	NM_006321	-		49005982	1	no_errors	ENST00000356401	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49005982	C	T	49005982	3	4	196	1	0	0	0	0	1	0	0	0	924	797	28	2	572	2	ARIH2	3	49005982	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	109936	49005982	149016448	484	13756											
DALRD3	55152	genome.wustl.edu	37	chr3	49053742	49053742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactctttgtgcccttcgtgGagatactgctgtcagccaga	10	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49053742G>A	ENST00000341949.4	-	9	1184	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	DALRD3_ENST00000440857.1_Missense_Mutation_p.S226F|DALRD3_ENST00000313778.5_Missense_Mutation_p.S226F|DALRD3_ENST00000441576.2_Missense_Mutation_p.S393F|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000395462.4_Missense_Mutation_p.S226F	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	393					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCCTTCGTGGAGATACTGCT	0.527																																																	0								ENSG00000178149						63	62	62					3																	49053742		2203	4300	6503	DALRD3	SO:0001583	missense	0			-	HGNC	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1178C>T	3.37:g.49053742G>A	ENSP00000344989:p.Ser393Phe	Somatic	0	23	0		0.52429534266604	85	38.41	53	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP							pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.S393F	ENST00000341949.4	37	c.1178	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918254	0.73098	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778	T;T;T;T;T	0.54675	0.56;0.64;0.63;0.58;0.63	5.69	5.69	0.88448	.	0.054165	0.85682	D	0.000000	T	0.71375	0.3332	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.979;0.999;0.956	T	0.72734	-0.4204	10	0.72032	D	0.01	-25.844	17.9955	0.89182	0.0:0.0:1.0:0.0	.	393;226;393;393	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	F	393;393;226;226;226	ENSP00000410623:S393F;ENSP00000344989:S393F;ENSP00000378846:S226F;ENSP00000403770:S226F;ENSP00000323265:S226F	ENSP00000323265:S226F	S	-	2	0	DALRD3	49028746	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	8.043000	0.89432	2.681000	0.91329	0.561000	0.74099	TCC	-	NULL		0.527	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	protein_coding	OTTHUMT00000345581.1	G	NM_018114	-		49053742	-1	no_errors	ENST00000341949	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49053742	G	A	49053742	3	1	196	1	0	0	0	0	1	0	0	0	4231	1174	41	2	469	2	DALRD3	3	49053742	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	47760	49053742	148968688	485	13757											
LAMB2	3913	genome.wustl.edu	37	chr3	49161903	49161903	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatggccactggtgaggttCcagaagttgggggcacagcg	16	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49161903C>T	ENST00000418109.1	-	23	3416	c.3252G>A	c.(3250-3252)tgG>tgA	p.W1084*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.W1084*|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1084	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGTGAGGTTCCAGAAGTTGG	0.637																																																	0								ENSG00000172037						43	44	43					3																	49161903		2203	4300	6503	LAMB2	SO:0001587	stop_gained	0			-	HGNC		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3252G>A	3.37:g.49161903C>T	ENSP00000388325:p.Trp1084*	Somatic	0	12	0		0.52429534266604	86	14.85	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	Q16321	Nonsense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.W1084*	ENST00000418109.1	37	c.3252	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.840073	0.98974	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1858	0.93644	0.0:1.0:0.0:0.0	.	.	.	.	X	1084	.	ENSP00000307156:W1084X	W	-	3	0	LAMB2	49136907	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.074000	0.71253	2.559000	0.86315	0.462000	0.41574	TGG	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.637	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	protein_coding	OTTHUMT00000345939.1	C	NM_002292	-		49161903	-1	no_errors	ENST00000305544	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	49161903	C	T	49161903	4	4	196	1	0	0	0	0	0	1	0	0	8613	856	30	2	2188	2	LAMB2	3	49161903	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	108161	49161903	148860527	486	13758											
RHOA	387	genome.wustl.edu	37	chr3	49413014	49413014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaccagtttcttccggatGgcagccattgctgaaacaca	8	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49413014G>A	ENST00000418115.1	-	2	393	c.9C>T	c.(7-9)gcC>gcT	p.A3A	RHOA_ENST00000454011.2_Silent_p.A3A|RHOA_ENST00000422781.1_Silent_p.A3A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	3					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTTCCGGATGGCAGCCATTG	0.473																																																	0								ENSG00000067560						99	92	94					3																	49413014		2203	4300	6503	RHOA	SO:0001819	synonymous_variant	0			-	HGNC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.9C>T	3.37:g.49413014G>A		Somatic	0	51	0		0.52429534266604	556	14.33	93	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A3	ENST00000418115.1	37	c.9	CCDS2795.1	3																																																																																			-	superfamily_P-loop_NTPase		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	protein_coding	OTTHUMT00000346157.3	G	NM_001664	-		49413014	-1	no_errors	ENST00000418115	ensembl	human	known	74_37	silent	SNP	1.000	A	A	49413014	G	A	49413014	2	1	196	1	0	0	0	0	0	0	0	1	13339	1335	47	2		2	RHOA	3	49413014	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	251111	49413014	148609416	487	13759											
BSN	8927	genome.wustl.edu	37	chr3	49662558	49662558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaggctgatggtccCcgcaggacgctgcaggtaga	17	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49662558C>T	ENST00000296452.4	+	2	489	c.375C>T	c.(373-375)ccC>ccT	p.P125P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	125					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)		CTGATGGTCCCCGCAGGACGC	0.647																																																	0								ENSG00000164061						82	73	76					3																	49662558		2203	4300	6503	BSN	SO:0001819	synonymous_variant	0			-	HGNC	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.375C>T	3.37:g.49662558C>T		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	41.38	O43161|Q7LGH3	Silent	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.P125	ENST00000296452.4	37	c.375	CCDS2800.1	3																																																																																			-	NULL		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	C	NM_003458	-		49662558	1	no_errors	ENST00000296452	ensembl	human	known	74_37	silent	SNP	0.999	T	T	49662558	C	T	49662558	2	4	196	1	0	0	0	0	0	0	0	1	1532	610	22	2		2	BSN	3	49662558	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	249544	49662558	148359872	488	13760											
BSN	8927	genome.wustl.edu	37	chr3	49698615	49698615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaaccagcaggctttcCgccccacaggccactatgca	8	17	0	0	rs377523782		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49698615C>T	ENST00000296452.4	+	6	9451	c.9337C>T	c.(9337-9339)Cgc>Tgc	p.R3113C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3113					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)	p.R3113C(1)		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)		GCAGGCTTTCCGCCCCACAGG	0.642																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000164061	C	CYS/ARG	0,4406		0,0,2203	44	41	42		9337	4.4	1	3		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3113/3927	49698615	1,13005	2203	4300	6503	BSN	SO:0001583	missense	0			-	HGNC	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.9337C>T	3.37:g.49698615C>T	ENSP00000296452:p.Arg3113Cys	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	O43161|Q7LGH3	Missense_Mutation	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3113C	ENST00000296452.4	37	c.9337	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	7.764	0.706037	0.15172	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.18502	2.21	5.27	4.4	0.53042	.	0.602886	0.17615	N	0.167938	T	0.16041	0.0386	L	0.36672	1.1	0.35751	D	0.819436	B	0.11235	0.004	B	0.08055	0.003	T	0.07290	-1.0780	10	0.72032	D	0.01	0.0	13.3283	0.60473	0.0:0.9226:0.0:0.0774	.	3113	Q9UPA5	BSN_HUMAN	C	3113	ENSP00000296452:R3113C	ENSP00000296452:R3113C	R	+	1	0	BSN	49673619	0.967000	0.33354	0.990000	0.47175	0.279000	0.26890	3.027000	0.49697	1.221000	0.43506	0.561000	0.74099	CGC	-	NULL		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	C	NM_003458	-		49698615	1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	0.996	T	T	49698615	C	T	49698615	3	4	196	1	0	0	0	0	1	0	0	0	1532	652	23	1	9359	1	BSN	3	49698615	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	36057	49698615	148323815	489	13761											
BSN	8927	genome.wustl.edu	37	chr3	49699682	49699682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcaaggggtacgaaagGgaacgggaggctgtggagcg	22	5	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49699682G>A	ENST00000296452.4	+	6	10518	c.10404G>A	c.(10402-10404)agG>agA	p.R3468R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3468					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)		GGTACGAAAGGGAACGGGAGG	0.637																																																	0								ENSG00000164061						46	52	50					3																	49699682		2203	4300	6503	BSN	SO:0001819	synonymous_variant	0			-	HGNC	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.10404G>A	3.37:g.49699682G>A		Somatic	0	122	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	136	30.96	O43161|Q7LGH3	Silent	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3468	ENST00000296452.4	37	c.10404	CCDS2800.1	3																																																																																			-	NULL		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	G	NM_003458	-		49699682	1	no_errors	ENST00000296452	ensembl	human	known	74_37	silent	SNP	0.994	A	A	49699682	G	A	49699682	2	1	196	1	0	0	0	0	0	0	0	1	1532	1223	43	2		2	BSN	3	49699682	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1067	49699682	148322748	490	13762											
TRAIP	10293	genome.wustl.edu	37	chr3	49869411	49869411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggagggccgggctggGggagtatccacatcaaaggt	18	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49869411G>A	ENST00000331456.2	-	11	1088	c.975C>T	c.(973-975)ccC>ccT	p.P325P	TRAIP_ENST00000469027.1_Silent_p.P170P	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	325	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCGGGCTGGGGGAGTATCCA	0.552																																																	0								ENSG00000183763						82	88	86					3																	49869411		2203	4300	6503	TRAIP	SO:0001819	synonymous_variant	0			-	HGNC	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.975C>T	3.37:g.49869411G>A		Somatic	0	31	0		0.52429534266604	11	52.17	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	B5BU84|B5BUL3|O00467	Silent	SNP							pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.P325	ENST00000331456.2	37	c.975	CCDS2806.1	3																																																																																			-	NULL		0.552	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	protein_coding	OTTHUMT00000350518.1	G	NM_005879	-		49869411	-1	no_errors	ENST00000331456	ensembl	human	known	74_37	silent	SNP	0.011	A	A	49869411	G	A	49869411	2	1	196	1	0	0	0	0	0	0	0	1	16455	1219	43	2		2	TRAIP	3	49869411	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	169729	49869411	148153019	491	13763											
CAMKV	79012	genome.wustl.edu	37	chr3	49898674	49898674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttctagcttagccagatgGaagtcactgatgacaatctt	8	8	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49898674G>A	ENST00000477224.1	-	6	979	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000488336.1_Silent_p.F167F|CAMKV_ENST00000296471.7_Silent_p.F167F|CAMKV_ENST00000466940.1_Silent_p.F124F|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_Silent_p.F92F|CAMKV_ENST00000463537.1_Silent_p.F167F			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					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)		TAGCCAGATGGAAGTCACTGA	0.552																																																	0								ENSG00000164076						81	75	77					3																	49898674		2203	4300	6503	CAMKV	SO:0001819	synonymous_variant	0			-	HGNC	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.501C>T	3.37:g.49898674G>A		Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	73	29.13	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F167	ENST00000477224.1	37	c.501	CCDS33762.1	3																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	protein_coding	OTTHUMT00000350584.4	G	NM_024046	-		49898674	-1	no_errors	ENST00000477224	ensembl	human	known	74_37	silent	SNP	1.000	A	A	49898674	G	A	49898674	2	1	196	1	0	0	0	0	0	0	0	1	2610	1165	41	2		2	CAMKV	3	49898674	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	29263	49898674	148123756	492	13764											
HYAL3	8372	genome.wustl.edu	37	chr3	50332650	50332650	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtggacaccactcctcCcaatccagcactgctgggcc	9	17	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:50332650C>T	ENST00000336307.1	-	2	656	c.384G>A	c.(382-384)tgG>tgA	p.W128*	HYAL3_ENST00000359051.3_Nonsense_Mutation_p.W128*|HYAL3_ENST00000450982.1_Nonsense_Mutation_p.W128*|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000429673.2_5'Flank|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	128					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACCACTCCTCCCAATCCAGCA	0.647																																																	0								ENSG00000186792						64	72	69					3																	50332650		2203	4300	6503	HYAL3	SO:0001587	stop_gained	0			-	HGNC	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.384G>A	3.37:g.50332650C>T	ENSP00000337425:p.Trp128*	Somatic	0	32	0		0.52429534266604	11	42.11	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Nonsense_Mutation	SNP							pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.W128*	ENST00000336307.1	37	c.384	CCDS2815.1	3	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662571	0.67700	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982;ENST00000435141	.	.	.	4.57	4.57	0.56435	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.551	14.9401	0.70986	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000337425:W128X	W	-	3	0	HYAL3	50307654	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.785000	0.68998	2.387000	0.81309	0.456000	0.33151	TGG	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.647	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	HYAL3	protein_coding	OTTHUMT00000346664.1	C	NM_003549	-		50332650	-1	no_errors	ENST00000336307	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	50332650	C	T	50332650	4	4	196	1	0	0	0	0	0	1	0	0	7467	624	22	2	881	2	HYAL3	3	50332650	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	433976	50332650	147689780	493	13765											
DOCK3	1795	genome.wustl.edu	37	chr3	51265457	51265457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttggctttgcattctcaAccctgatgcgtgatgatggc	10	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:51265457A>G	ENST00000266037.9	+	17	1608	c.1585A>G	c.(1585-1587)Acc>Gcc	p.T529A		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	529	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCATTCTCAACCCTGATGCG	0.463																																																	0								ENSG00000088538						158	148	151					3																	51265457		2011	4189	6200	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1585A>G	3.37:g.51265457A>G	ENSP00000266037:p.Thr529Ala	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.50	O15017	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.T529A	ENST00000266037.9	37	c.1585	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.936653	0.97122	.	.	ENSG00000088538	ENST00000266037	T	0.13420	2.59	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	N	0.08118	0	0.27677	N	0.94656	B	0.06786	0.001	B	0.04013	0.001	T	0.18272	-1.0342	10	0.56958	D	0.05	.	16.8238	0.85925	0.1298:0.8702:0.0:0.0	.	529	Q8IZD9	DOCK3_HUMAN	A	529	ENSP00000266037:T529A	ENSP00000266037:T529A	T	+	1	0	DOCK3	51240497	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.096000	0.71446	1.548000	0.49413	-0.127000	0.14921	ACC	-	NULL		0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	A	NM_004947	-		51265457	1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	G	G	51265457	A	G	51265457	3	3	196	1	0	0	0	0	1	0	0	0	4690	43	2	5	1651	5	DOCK3	3	51265457	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	932807	51265457	146756973	494	13766											
DUSP7	1849	genome.wustl.edu	37	chr3	52088018	52088018	+	Missense_Mutation	SNP	G	G	A													ggctccagtggtcagagatgGggatctgcttgtaggtgaac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52088018G>A	ENST00000495880.1	-	2	1073	c.890C>T	c.(889-891)cCc>cTc	p.P297L	DUSP7_ENST00000296483.6_Missense_Mutation_p.P246L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	297					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCAGAGATGGGGATCTGCTT	0.572																																																	0								ENSG00000164086						215	196	202					3																	52088018		2203	4300	6503	DUSP7	SO:0001583	missense	0			-	HGNC	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.890C>T	3.37:g.52088018G>A	ENSP00000417183:p.Pro297Leu	Somatic	0	47	0		0.52429534266604	20	35.48	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	61	18.67	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P246L	ENST00000495880.1	37	c.737	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.438070	0.96168	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.88664	-2.41;-2.41;-2.41	5.71	5.71	0.89125	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95454	0.8537	10	0.87932	D	0	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	246;297	Q16829-2;Q16829	.;DUS7_HUMAN	L	297;246;230	ENSP00000417183:P297L;ENSP00000296483:P246L;ENSP00000418566:P230L	ENSP00000296483:P246L	P	-	2	0	DUSP7	52063058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.688000	0.91661	0.549000	0.68633	CCC	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat		0.572	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	protein_coding	OTTHUMT00000349697.1	G	NM_001947	-		52088018	-1	no_errors	ENST00000296483	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52088018	G	A	52088018	3	1	196	1	0	0	0	0	1	0	0	0	4832	1232	43	2	377	2	DUSP7	3	52088018	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	822561	52088018	145934412	495	13767	241	2									
DUSP7	1849	genome.wustl.edu	37	chr3	52088019	52088019	+	Missense_Mutation	SNP	G	G	A													gctccagtggtcagagatggGgatctgcttgtaggtgaact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52088019G>A	ENST00000495880.1	-	2	1072	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	DUSP7_ENST00000296483.6_Missense_Mutation_p.P246S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	297					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCAGAGATGGGGATCTGCTTG	0.577																																																	0								ENSG00000164086						217	197	204					3																	52088019		2203	4300	6503	DUSP7	SO:0001583	missense	0			-	HGNC	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.889C>T	3.37:g.52088019G>A	ENSP00000417183:p.Pro297Ser	Somatic	0	50	0		0.52429534266604	20	35.48	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P246S	ENST00000495880.1	37	c.736	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.419020	0.96092	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.88741	-2.42;-2.42;-2.42	5.84	5.84	0.93424	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93930	0.7213	10	0.87932	D	0	.	19.7465	0.96253	0.0:0.0:1.0:0.0	.	246;297	Q16829-2;Q16829	.;DUS7_HUMAN	S	297;246;230	ENSP00000417183:P297S;ENSP00000296483:P246S;ENSP00000418566:P230S	ENSP00000296483:P246S	P	-	1	0	DUSP7	52063059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCC	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat		0.577	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	protein_coding	OTTHUMT00000349697.1	G	NM_001947	-		52088019	-1	no_errors	ENST00000296483	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52088019	G	A	52088019	3	1	196	1	0	0	0	0	1	0	0	0	4832	1232	43	2	378	2	DUSP7	3	52088019	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	52088019	145934411	496	13768	241	2									
TLR9	54106	genome.wustl.edu	37	chr3	52256651	52256651	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggcccacgccctgcaTgccaaagggctggctgttgt	14	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52256651T>A	ENST00000360658.2	-	2	2314	c.1681A>T	c.(1681-1683)Atg>Ttg	p.M561L	TLR9_ENST00000597542.1_Missense_Mutation_p.M585L|TLR9_ENST00000494383.1_Missense_Mutation_p.H714L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	561					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|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 synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ACGCCCTGCATGCCAAAGGGC	0.617																																																	0								ENSG00000239732						53	46	48					3																	52256651		2203	4300	6503	TLR9	SO:0001583	missense	0			-	HGNC	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1681A>T	3.37:g.52256651T>A	ENSP00000353874:p.Met561Leu	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.M585L	ENST00000360658.2	37	c.1753	CCDS2848.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.84|15.84	2.952176|2.952176	0.53293|0.53293	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.23147	.|1.92	5.39|5.39	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.50627	.|D	.|0.000119	T|T	0.12092|0.12092	0.0294|0.0294	N|N	0.05230|0.05230	-0.09|-0.09	0.37129|0.37129	D|D	0.901156|0.901156	.|P;P	.|0.47302	.|0.893;0.851	.|B;B	.|0.41946	.|0.371;0.293	T|T	0.13202|0.13202	-1.0518|-1.0518	5|9	.|.	.|.	.|.	.|.	9.534|9.534	0.39211|0.39211	0.0:0.0981:0.0:0.9019|0.0:0.0981:0.0:0.9019	.|.	.|658;561	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	L|L	714|561	.|ENSP00000353874:M561L	.|.	H|M	-|-	2|1	0|0	RP11-330H6.5|TLR9	52231691|52231691	0.070000|0.070000	0.21116|0.21116	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.020000|1.020000	0.30027|0.30027	2.047000|2.047000	0.60756|0.60756	0.459000|0.459000	0.35465|0.35465	CAT|ATG	-	NULL		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	protein_coding	OTTHUMT00000350203.1	T		-		52256651	-1	no_errors	ENST00000597542	ensembl	human	known	74_37	missense	SNP	0.994	A	A	52256651	T	A	52256651	3	1	196	1	0	0	0	0	1	0	0	0	15965	1464	51	5	1421	5	TLR9	3	52256651	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	168632	52256651	145765779	497	13769											
STAB1	23166	genome.wustl.edu	37	chr3	52538553	52538553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtctcctccttctcctcCaggaccatgaatgtaagccc	6	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52538553C>T	ENST00000321725.6	+	11	1303	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	409	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTTCTCCTCCAGGACCATGA	0.642																																																	0								ENSG00000010327						80	77	78					3																	52538553		2203	4299	6502	STAB1	SO:0001819	synonymous_variant	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1227C>T	3.37:g.52538553C>T		Somatic	0	45	0		0.52429534266604	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	64	15.79	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S409	ENST00000321725.6	37	c.1227	CCDS33768.1	3																																																																																			-	superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	C	NM_015136	-		52538553	1	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	SNP	0.196	T	T	52538553	C	T	52538553	2	4	196	1	0	0	0	0	0	0	0	1	15244	581	21	2		2	STAB1	3	52538553	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	281902	52538553	145483877	498	13770											
STAB1	23166	genome.wustl.edu	37	chr3	52557974	52557974	+	Missense_Mutation	SNP	G	G	A													cactgcttggcttggtggccGgagctctctacctccgtgcc					rs374499332		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52557974G>A	ENST00000321725.6	+	67	7559	c.7483G>A	c.(7483-7485)Gga>Aga	p.G2495R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2495					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTGGTGGCCGGAGCTCTCTA	0.652																																																	0								ENSG00000010327	G	ARG/GLY	0,4398		0,0,2199	24	26	25		7483	4.4	0.4	3		25	3,8587		0,3,4292	no	missense	STAB1	NM_015136.2	125	0,3,6491	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	2495/2571	52557974	3,12985	2199	4295	6494	STAB1	SO:0001583	missense	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7483G>A	3.37:g.52557974G>A	ENSP00000312946:p.Gly2495Arg	Somatic	0	29	0		0.52429534266604	576	0.34	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2495R	ENST00000321725.6	37	c.7483	CCDS33768.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.91|14.91	2.675685|2.675685	0.47781|0.47781	0.0|0.0	3.49E-4|3.49E-4	ENSG00000010327|ENSG00000010327	ENST00000321725|ENST00000469989	D|.	0.85484|.	-1.99|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.163372|.	0.38164|.	N|.	0.001796|.	T|T	0.65333|0.65333	0.2681|0.2681	M|M	0.64997|0.64997	1.995|1.995	0.34505|0.34505	D|D	0.70652|0.70652	D;D|.	0.71674|.	0.998;0.994|.	P;P|.	0.56216|.	0.794;0.636|.	T|T	0.72151|0.72151	-0.4377|-0.4377	10|5	0.54805|.	T|.	0.06|.	.|.	12.767|12.767	0.57396|0.57396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	407;2495|.	B3KSK0;Q9NY15|.	.;STAB1_HUMAN|.	R|Q	2495|101	ENSP00000312946:G2495R|.	ENSP00000312946:G2495R|.	G|R	+|+	1|2	0|0	STAB1|STAB1	52533014|52533014	0.146000|0.146000	0.22672|0.22672	0.405000|0.405000	0.26409|0.26409	0.088000|0.088000	0.18126|0.18126	3.031000|3.031000	0.49728|0.49728	2.733000|2.733000	0.93635|0.93635	0.561000|0.561000	0.74099|0.74099	GGA|CGG	-	NULL		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	G	NM_015136	-		52557974	1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	SNP	0.505	A	A	52557974	G	A	52557974	3	1	196	1	0	0	0	0	1	0	0	0	15244	1117	39	1	7749	1	STAB1	3	52557974	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	19421	52557974	145464456	499	13771	242	2									
STAB1	23166	genome.wustl.edu	37	chr3	52557975	52557975	+	Missense_Mutation	SNP	G	G	A													actgcttggcttggtggccgGagctctctacctccgtgccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52557975G>A	ENST00000321725.6	+	67	7560	c.7484G>A	c.(7483-7485)gGa>gAa	p.G2495E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2495					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGGTGGCCGGAGCTCTCTAC	0.657																																																	0								ENSG00000010327						24	26	25					3																	52557975		2199	4296	6495	STAB1	SO:0001583	missense	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7484G>A	3.37:g.52557975G>A	ENSP00000312946:p.Gly2495Glu	Somatic	0	29	0		0.52429534266604	593	0.34	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.40	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2495E	ENST00000321725.6	37	c.7484	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843017	0.32606	.	.	ENSG00000010327	ENST00000321725	D	0.85339	-1.97	4.39	2.53	0.30540	.	0.163372	0.38164	N	0.001796	D	0.86606	0.5973	M	0.64997	1.995	0.33270	D	0.560873	D;P	0.56035	0.974;0.931	P;B	0.53450	0.726;0.444	D	0.88914	0.3361	10	0.54805	T	0.06	.	10.7866	0.46409	0.0:0.3738:0.6262:0.0	.	407;2495	B3KSK0;Q9NY15	.;STAB1_HUMAN	E	2495	ENSP00000312946:G2495E	ENSP00000312946:G2495E	G	+	2	0	STAB1	52533015	0.054000	0.20591	0.415000	0.26534	0.092000	0.18411	0.206000	0.17375	0.748000	0.32831	-0.305000	0.09177	GGA	-	NULL		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	G	NM_015136	-		52557975	1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	SNP	0.520	A	A	52557975	G	A	52557975	3	1	196	1	0	0	0	0	1	0	0	0	15244	1174	41	2	7750	2	STAB1	3	52557975	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	52557975	145464455	500	13772	242	2									
NT5DC2	64943	genome.wustl.edu	37	chr3	52562234	52562234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatgtgcttggtcaaactCcaggctgtggcccagaaagt	13	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52562234C>T	ENST00000307076.4	-	6	1025	c.625G>A	c.(625-627)Gag>Aag	p.E209K	NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E221K|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E150K|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E246K	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	209							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGGTCAAACTCCAGGCTGTGG	0.577																																																	0								ENSG00000168268						88	82	84					3																	52562234		2203	4300	6503	NT5DC2	SO:0001583	missense	0			-	HGNC	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.625G>A	3.37:g.52562234C>T	ENSP00000302468:p.Glu209Lys	Somatic	0	16	0		0.52429534266604	369	48.03	341	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	43.48	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP							pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E246K	ENST00000307076.4	37	c.736	CCDS2858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911853|3.911853	0.72983|0.72983	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839;ENST00000471522|ENST00000489316	T;T;T;T;T|.	0.22743|.	1.94;1.94;1.94;1.94;1.94|.	4.65|4.65	4.65|4.65	0.58169|0.58169	HAD-like domain (1);|.	0.050748|.	0.85682|.	D|.	0.000000|.	T|T	0.69833|0.69833	0.3155|0.3155	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	P;P;P|.	0.41188|.	0.741;0.627;0.627|.	P;B;B|.	0.45712|.	0.491;0.281;0.281|.	T|T	0.68595|0.68595	-0.5367|-0.5367	10|5	0.29301|.	T|.	0.29|.	-33.4652|-33.4652	17.519|17.519	0.87782|0.87782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	221;209;246|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	K|E	150;209;246;221;57|130	ENSP00000306017:E150K;ENSP00000302468:E209K;ENSP00000406933:E246K;ENSP00000419547:E221K;ENSP00000418583:E57K|.	ENSP00000302468:E209K|.	E|G	-|-	1|2	0|0	NT5DC2|NT5DC2	52537274|52537274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.776000|0.776000	0.43924|0.43924	7.463000|7.463000	0.80869|0.80869	2.158000|2.158000	0.67659|0.67659	0.313000|0.313000	0.20887|0.20887	GAG|GGA	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.577	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	protein_coding	OTTHUMT00000351509.1	C	NM_022908	-		52562234	-1	no_errors	ENST00000422318	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52562234	C	T	52562234	3	4	196	1	0	0	0	0	1	0	0	0	10693	864	30	2	973	2	NT5DC2	3	52562234	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4259	52562234	145460196	501	13773											
PBRM1	55193	genome.wustl.edu	37	chr3	52595909	52595909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatctcactgctgaacaGgatgtagccactcatgttga	8	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52595909G>A	ENST00000296302.7	-	25	4163	c.4162C>T	c.(4162-4164)Ctg>Ttg	p.L1388L	RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000337303.4_Silent_p.L1388L|PBRM1_ENST00000409057.1_Silent_p.L1388L|PBRM1_ENST00000356770.4_Silent_p.L1356L|PBRM1_ENST00000409767.1_Silent_p.L1403L|PBRM1_ENST00000409114.3_Silent_p.L1403L|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Silent_p.L1336L|PBRM1_ENST00000410007.1_Silent_p.L1363L			Q86U86	PB1_HUMAN	polybromo 1	1388					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCTGAACAGGATGTAGCCA	0.502			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0								ENSG00000163939						180	178	179					3																	52595909		2203	4300	6503	PBRM1	SO:0001819	synonymous_variant	0			-	HGNC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4162C>T	3.37:g.52595909G>A		Somatic	0	47	0		0.52429534266604	10	37.5	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP							pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.L1388	ENST00000296302.7	37	c.4162		3																																																																																			-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.502	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	G	NM_018165	-		52595909	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	silent	SNP	1.000	A	A	52595909	G	A	52595909	2	1	196	1	0	0	0	0	0	0	0	1	11493	991	35	2		2	PBRM1	3	52595909	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	33675	52595909	145426521	502	13774											
ITIH1	3697	genome.wustl.edu	37	chr3	52814391	52814391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcaagaagtccttctcagGaaaaaaggtacatgggatag	10	6	2	1	rs267599896		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52814391G>A	ENST00000273283.2	+	6	704	c.680G>A	c.(679-681)gGa>gAa	p.G227E	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.G85E|ITIH1_ENST00000542827.1_Missense_Mutation_p.G227E|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	227					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCTTCTCAGGAAAAAAGGTA	0.562																																																	0								ENSG00000055957						40	39	39					3																	52814391		2203	4300	6503	ITIH1	SO:0001583	missense	0			-	HGNC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.680G>A	3.37:g.52814391G>A	ENSP00000273283:p.Gly227Glu	Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	72	18.18	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G227E	ENST00000273283.2	37	c.680	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568959	0.65765	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02050	4.48;4.99;4.88	6.07	5.2	0.72013	.	0.449057	0.26362	N	0.024808	T	0.05777	0.0151	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.55945	-0.8060	10	0.09338	T	0.73	-30.6864	13.4741	0.61297	0.0728:0.0:0.9272:0.0	.	227	P19827	ITIH1_HUMAN	E	227;227;85	ENSP00000442584:G227E;ENSP00000273283:G227E;ENSP00000443973:G85E	ENSP00000273283:G227E	G	+	2	0	ITIH1	52789431	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.035000	0.57297	1.581000	0.49865	0.655000	0.94253	GGA	-	NULL		0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	protein_coding	OTTHUMT00000317522.1	G	NM_002215	-		52814391	1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52814391	G	A	52814391	3	1	196	1	0	0	0	0	1	0	0	0	7905	1174	41	2	702	2	ITIH1	3	52814391	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	218482	52814391	145208039	503	13775											
ITIH1	3697	genome.wustl.edu	37	chr3	52817259	52817259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatggaggtttgctccggGgaattgagatcttgaaccaa	13	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52817259G>A	ENST00000273283.2	+	10	1153	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ITIH1_ENST00000537050.1_Missense_Mutation_p.G89R|ITIH1_ENST00000540715.1_Missense_Mutation_p.G235R|ITIH1_ENST00000542827.1_Missense_Mutation_p.G377R	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	377	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTGCTCCGGGGAATTGAGAT	0.502																																																	0								ENSG00000055957						92	81	85					3																	52817259		2203	4300	6503	ITIH1	SO:0001583	missense	0			-	HGNC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1129G>A	3.37:g.52817259G>A	ENSP00000273283:p.Gly377Arg	Somatic	0	69	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	65	31.58	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G377R	ENST00000273283.2	37	c.1129	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.347467	0.95807	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050	T;T;T;D	0.83837	-1.21;-1.21;-1.21;-1.77	5.8	5.8	0.92144	von Willebrand factor, type A (3);	0.125415	0.56097	D	0.000036	D	0.91683	0.7371	M	0.77616	2.38	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.91902	0.5532	10	0.87932	D	0	-11.8201	19.7286	0.96174	0.0:0.0:1.0:0.0	.	377	P19827	ITIH1_HUMAN	R	377;377;235;89	ENSP00000442584:G377R;ENSP00000273283:G377R;ENSP00000443973:G235R;ENSP00000443847:G89R	ENSP00000273283:G377R	G	+	1	0	ITIH1	52792299	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	6.986000	0.76200	2.775000	0.95449	0.650000	0.86243	GGA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.502	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	protein_coding	OTTHUMT00000317522.1	G	NM_002215	-		52817259	1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52817259	G	A	52817259	3	1	196	1	0	0	0	0	1	0	0	0	7905	1233	43	2	1167	2	ITIH1	3	52817259	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2868	52817259	145205171	504	13776											
ITIH1	3697	genome.wustl.edu	37	chr3	52819120	52819120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatttgcagtacccccagGatgctgtcttggccctgacc	11	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52819120G>A	ENST00000273283.2	+	12	1492	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.D202N|ITIH1_ENST00000540715.1_Missense_Mutation_p.D348N|ITIH1_ENST00000542827.1_Missense_Mutation_p.D490N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	490	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTACCCCCAGGATGCTGTCTT	0.552																																																	0								ENSG00000055957						126	117	120					3																	52819120		2203	4300	6503	ITIH1	SO:0001583	missense	0			-	HGNC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1468G>A	3.37:g.52819120G>A	ENSP00000273283:p.Asp490Asn	Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	69	26.60	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D490N	ENST00000273283.2	37	c.1468	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	5.475	0.272693	0.10349	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	4.88	4.88	0.63580	.	0.093312	0.64402	D	0.000001	T	0.05640	0.0148	L	0.27944	0.81	0.33593	D	0.601403	B;B;B	0.12630	0.006;0.005;0.001	B;B;B	0.15052	0.012;0.003;0.004	T	0.26985	-1.0087	10	0.02654	T	1	-19.6978	5.4889	0.16765	0.1308:0.1959:0.6733:0.0	.	348;91;490	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	N	490;490;348;202;43	ENSP00000442584:D490N;ENSP00000273283:D490N;ENSP00000443973:D348N;ENSP00000443847:D202N;ENSP00000395836:D43N	ENSP00000273283:D490N	D	+	1	0	ITIH1	52794160	0.957000	0.32711	0.499000	0.27577	0.937000	0.57800	2.178000	0.42519	2.557000	0.86248	0.543000	0.68304	GAT	-	NULL		0.552	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	protein_coding	OTTHUMT00000317522.1	G	NM_002215	-		52819120	1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	SNP	0.781	A	A	52819120	G	A	52819120	3	1	196	1	0	0	0	0	1	0	0	0	7905	1174	41	2	1514	2	ITIH1	3	52819120	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1861	52819120	145203310	505	13777											
ITIH1	3697	genome.wustl.edu	37	chr3	52823792	52823792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagttggaagtgactcCtcagaacattacgctgaacc	8	11	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52823792C>T	ENST00000273283.2	+	19	2267	c.2243C>T	c.(2242-2244)cCt>cTt	p.P748L	ITIH1_ENST00000405128.3_Missense_Mutation_p.P114L|ITIH1_ENST00000537050.1_Missense_Mutation_p.P460L|ITIH1_ENST00000540715.1_Missense_Mutation_p.P606L|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	748	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P748H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAAGTGACTCCTCAGAACATT	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000055957						102	95	97					3																	52823792		2203	4300	6503	ITIH1	SO:0001583	missense	0			-	HGNC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2243C>T	3.37:g.52823792C>T	ENSP00000273283:p.Pro748Leu	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	56	17.39	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.P748L	ENST00000273283.2	37	c.2243	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890105	0.72524	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.63	5.63	0.86233	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.058706	0.64402	D	0.000002	T	0.40979	0.1139	M	0.80746	2.51	0.58432	D	0.99999	P;D;D;D	0.76494	0.728;0.993;0.999;0.988	P;D;D;D	0.73708	0.458;0.94;0.981;0.933	T	0.27226	-1.0080	10	0.72032	D	0.01	-12.4208	16.6082	0.84836	0.0:1.0:0.0:0.0	.	606;114;349;748	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	L	748;606;460;301;114	ENSP00000273283:P748L;ENSP00000443973:P606L;ENSP00000443847:P460L;ENSP00000395836:P301L;ENSP00000384589:P114L	ENSP00000273283:P748L	P	+	2	0	ITIH1	52798832	0.998000	0.40836	0.998000	0.56505	0.349000	0.29174	3.203000	0.51075	2.644000	0.89710	0.563000	0.77884	CCT	-	pfam_ITI_HC_C		0.612	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	protein_coding	OTTHUMT00000317522.1	C	NM_002215	-		52823792	1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52823792	C	T	52823792	3	4	196	1	0	0	0	0	1	0	0	0	7905	681	24	2	2317	2	ITIH1	3	52823792	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4672	52823792	145198638	506	13778											
ITIH4	3700	genome.wustl.edu	37	chr3	52852107	52852107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttcactggcccctggcGgtgtctggggtccacacaga	14	13	2	1	rs376241378		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52852107G>A	ENST00000266041.4	-	20	2353	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.R737C|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.R723C|ITIH4_ENST00000485816.1_Missense_Mutation_p.R758C	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	753					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGCCCCTGGCGGTGTCTGGGG	0.662																																																	0								ENSG00000055955	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	68	65		2167,2257	-9.6	0	3		65	0,8600		0,0,4300	no	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	723/901,753/931	52852107	1,13005	2203	4300	6503	ITIH4	SO:0001583	missense	0			-	HGNC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2257C>T	3.37:g.52852107G>A	ENSP00000266041:p.Arg753Cys	Somatic	0	32	0		0.52429534266604	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP							pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R753C	ENST00000266041.4	37	c.2257	CCDS2865.1	3	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777820	0.49786	2.27E-4	0.0	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.01446	4.93;4.88;4.93;4.92	4.8	-9.6	0.00553	.	0.972957	0.08429	N	0.947267	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	P;P;P	0.44816	0.844;0.587;0.752	B;B;B	0.36418	0.224;0.161;0.224	T	0.31641	-0.9936	10	0.59425	D	0.04	0.0045	0.8942	0.01260	0.2007:0.219:0.1502:0.4301	.	723;758;753	E9PGN5;B7ZKJ8;Q14624	.;.;ITIH4_HUMAN	C	753;737;758;723;711	ENSP00000266041:R753C;ENSP00000340520:R737C;ENSP00000417824:R758C;ENSP00000384425:R723C	ENSP00000266041:R753C	R	-	1	0	ITIH4	52827147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.677000	0.05215	-2.120000	0.00826	-0.302000	0.09304	CGC	-	NULL		0.662	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	protein_coding	OTTHUMT00000317715.1	G	NM_002218	-		52852107	-1	no_errors	ENST00000266041	ensembl	human	known	74_37	missense	SNP	0.000	A	A	52852107	G	A	52852107	3	1	196	1	0	0	0	0	1	0	0	0	7908	1116	39	1	555	1	ITIH4	3	52852107	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	28315	52852107	145170323	507	13779											
CACNA1D	776	genome.wustl.edu	37	chr3	53845286	53845286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatgggaacgtgcgtccCcgagccaacggggatgtggg	16	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:53845286C>T	ENST00000350061.5	+	48	6850	c.6339C>T	c.(6337-6339)ccC>ccT	p.P2113P	CACNA1D_ENST00000288139.4_Silent_p.P2133P|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Silent_p.P2089P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2113					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGTGCGTCCCCGAGCCAACG	0.592																																																	0								ENSG00000157388						83	80	81					3																	53845286		2203	4300	6503	CACNA1D	SO:0001819	synonymous_variant	0			-	HGNC	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6339C>T	3.37:g.53845286C>T		Somatic	0	34	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.P2133	ENST00000350061.5	37	c.6399	CCDS46848.1	3																																																																																			-	NULL		0.592	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	C	NM_000720	-		53845286	1	no_errors	ENST00000288139	ensembl	human	known	74_37	silent	SNP	0.975	T	T	53845286	C	T	53845286	2	4	196	1	0	0	0	0	0	0	0	1	2543	610	22	2		2	CACNA1D	3	53845286	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	993179	53845286	144177144	508	13780											
SELK	58515	genome.wustl.edu	37	chr3	53922480	53922480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcaaagataatctccatGgagactgactccggctgtcc	8	11	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:53922480G>A	ENST00000495461.1	-	2	249	c.50C>T	c.(49-51)cCa>cTa	p.P17L	SELK_ENST00000485414.1_5'UTR|SELK_ENST00000541726.1_Missense_Mutation_p.P17L			Q9Y6D0	SELK_HUMAN		17					calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATCTCCATGGAGACTGACT	0.378																																																	0								ENSG00000113811						118	123	121					3																	53922480		2173	4283	6456	SELK	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000495461.1:c.50C>T	3.37:g.53922480G>A	ENSP00000418813:p.Pro17Leu	Somatic	0	59	0		0.52429534266604	222	33.43	112	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	Q8IZQ3|Q9P085	Missense_Mutation	SNP							pfam_Se_SelK/SelG	p.P17L	ENST00000495461.1	37	c.50	CCDS54597.1	3	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173955	0.38413	.	.	ENSG00000113811	ENST00000495461;ENST00000541726	T;T	0.48836	0.8;0.8	5.74	4.76	0.60689	.	0.096626	0.64402	D	0.000001	T	0.23766	0.0575	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11421	-1.0588	9	0.02654	T	1	0.2305	11.6683	0.51387	0.1165:0.0:0.8835:0.0	.	17	Q9Y6D0	SELK_HUMAN	L	17	ENSP00000418813:P17L;ENSP00000443164:P17L	ENSP00000417272:P17L	P	-	2	0	RP11-884K10.5	53897520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.319000	0.59197	2.717000	0.92951	0.655000	0.94253	CCA	-	pfam_Se_SelK/SelG		0.378	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	protein_coding	OTTHUMT00000351659.1	G		-		53922480	-1	no_errors	ENST00000541726	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53922480	G	A	53922480	3	1	196	1	0	0	0	0	1	0	0	0	14023	1348	47	2	250	2	SELK	3	53922480	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	77194	53922480	144099950	509	13781											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54604049	54604049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcagtggcagcatgaaagGactccgtctgactatcgcga	12	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:54604049G>A	ENST00000474759.1	+	8	854	c.806G>A	c.(805-807)gGa>gAa	p.G269E	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G269E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G175E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G269E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	269	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					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)	AGCATGAAAGGACTCCGTCTG	0.433																																																	0								ENSG00000157445						170	164	166					3																	54604049		2008	4179	6187	CACNA2D3	SO:0001583	missense	0			-	HGNC	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.806G>A	3.37:g.54604049G>A	ENSP00000419101:p.Gly269Glu	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	45	41.56	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP							pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G269E	ENST00000474759.1	37	c.806	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018309	0.93404	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.4	5.4	0.78164	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.83603	2.65	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.34750	-0.9816	10	0.54805	T	0.06	.	19.5514	0.95322	0.0:0.0:1.0:0.0	.	269	Q8IZS8	CA2D3_HUMAN	E	269;269;269;175;175;174	ENSP00000389506:G269E;ENSP00000419101:G269E;ENSP00000288197:G269E;ENSP00000417279:G175E	ENSP00000288197:G269E	G	+	2	0	CACNA2D3	54579089	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.751000	0.98889	2.705000	0.92388	0.650000	0.86243	GGA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.433	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	G		-		54604049	1	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54604049	G	A	54604049	3	1	196	1	0	0	0	0	1	0	0	0	2552	1174	41	2	836	2	CACNA2D3	3	54604049	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	681569	54604049	143418381	510	13782											
LRTM1	57408	genome.wustl.edu	37	chr3	54958660	54958660	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgacctttatagacaaatTtctccagccagagtttaaga	6	9	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:54958660T>A	ENST00000273286.5	-	2	752	c.590A>T	c.(589-591)aAa>aTa	p.K197I	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.K121I|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	197	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATAGACAAATTTCTCCAGCCA	0.458																																																	0								ENSG00000144771						77	82	80					3																	54958660		2203	4300	6503	LRTM1	SO:0001583	missense	0			-	HGNC	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.590A>T	3.37:g.54958660T>A	ENSP00000273286:p.Lys197Ile	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	Q8IUU2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K197I	ENST00000273286.5	37	c.590	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545184	0.45280	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90261	4.32;-2.64	5.82	0.903	0.19296	Cysteine-rich flanking region, C-terminal (1);	0.350840	0.35525	N	0.003148	T	0.81973	0.4936	L	0.49126	1.545	0.27278	N	0.958186	P	0.41265	0.744	B	0.30943	0.122	T	0.74256	-0.3724	10	0.52906	T	0.07	.	5.3775	0.16174	0.0:0.517:0.2263:0.2567	.	197	Q9HBL6	LRTM1_HUMAN	I	197;121	ENSP00000273286:K197I;ENSP00000419772:K121I	ENSP00000273286:K197I	K	-	2	0	LRTM1	54933700	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	1.271000	0.33098	0.155000	0.19261	0.533000	0.62120	AAA	-	smart_Cys-rich_flank_reg_C		0.458	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	protein_coding	OTTHUMT00000351399.1	T	NM_020678	-		54958660	-1	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	SNP	0.976	A	A	54958660	T	A	54958660	3	1	196	1	0	0	0	0	1	0	0	0	9046	1841	64	5	455	5	LRTM1	3	54958660	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	354611	54958660	143063770	511	13783											
ARHGEF3	50650	genome.wustl.edu	37	chr3	56807784	56807784	+	Missense_Mutation	SNP	G	G	A													tggcgtggccttcacgggcgGgatgaggtttgctagcgacg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:56807784G>A	ENST00000296315.3	-	2	325	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.P59S|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.P85S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.P24S|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.P53S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.P59S|ARHGEF3_ENST00000498517.1_5'UTR	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	53					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTCACGGGCGGGATGAGGTTT	0.483																																																	0								ENSG00000163947						116	111	113					3																	56807784		2203	4300	6503	ARHGEF3	SO:0001583	missense	0			-	HGNC	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.157C>T	3.37:g.56807784G>A	ENSP00000296315:p.Pro53Ser	Somatic	0	114	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	97	35.10	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P85S	ENST00000296315.3	37	c.253	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	G	5.761	0.324820	0.10900	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779;ENST00000468466	T;T;T;T;T;T	0.21361	2.15;2.03;2.01;2.03;2.03;2.19	5.28	4.39	0.52855	.	0.052636	0.85682	D	0.000000	T	0.13970	0.0338	N	0.25485	0.75	0.58432	D	0.999994	B;B;B;B;B;B	0.22276	0.04;0.02;0.007;0.041;0.04;0.067	B;B;B;B;B;B	0.20955	0.023;0.008;0.008;0.032;0.014;0.032	T	0.04915	-1.0918	10	0.02654	T	1	-4.0576	16.1151	0.81302	0.0:0.1341:0.8659:0.0	.	59;24;53;85;53;59	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	53;85;59;59;24;53;54;71;85	ENSP00000296315:P53S;ENSP00000341071:P85S;ENSP00000410922:P59S;ENSP00000420420:P59S;ENSP00000418826:P24S;ENSP00000417986:P53S	ENSP00000296315:P53S	P	-	1	0	ARHGEF3	56782824	1.000000	0.71417	0.963000	0.40424	0.942000	0.58702	4.904000	0.63279	1.349000	0.45751	0.650000	0.86243	CCG	-	NULL		0.483	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	protein_coding	OTTHUMT00000352431.2	G	NM_019555	-		56807784	-1	no_errors	ENST00000338458	ensembl	human	known	74_37	missense	SNP	0.999	A	A	56807784	G	A	56807784	3	1	196	1	0	0	0	0	1	0	0	0	904	1232	43	2	1459	2	ARHGEF3	3	56807784	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1849124	56807784	141214646	512	13784	243	2									
ARHGEF3	50650	genome.wustl.edu	37	chr3	56807787	56807787	+	Missense_Mutation	SNP	T	T	G													cgtggccttcacgggcgggaTgaggtttgctagcgacgtga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:56807787T>G	ENST00000296315.3	-	2	322	c.154A>C	c.(154-156)Atc>Ctc	p.I52L	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.I58L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.I84L|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.I23L|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.I52L|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.I58L|ARHGEF3_ENST00000498517.1_5'UTR	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	52					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACGGGCGGGATGAGGTTTGCT	0.478																																																	0								ENSG00000163947						115	111	113					3																	56807787		2203	4300	6503	ARHGEF3	SO:0001583	missense	0			-	HGNC	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.154A>C	3.37:g.56807787T>G	ENSP00000296315:p.Ile52Leu	Somatic	0	111	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	97	35.33	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I84L	ENST00000296315.3	37	c.250	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656383	0.67586	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779;ENST00000468466	T;T;T;T;T;T	0.25579	2.07;1.79;1.94;1.82;1.94;2.13	5.28	5.28	0.74379	.	0.120167	0.56097	D	0.000033	T	0.28101	0.0693	L	0.52364	1.645	0.58432	D	0.999996	B;B;B;B;B;B	0.27013	0.054;0.011;0.004;0.166;0.054;0.09	B;B;B;B;B;B	0.29862	0.034;0.02;0.012;0.108;0.028;0.061	T	0.04029	-1.0983	10	0.42905	T	0.14	-9.0284	15.5366	0.76007	0.0:0.0:0.0:1.0	.	58;23;52;84;52;58	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	L	52;84;58;58;23;52;53;70;84	ENSP00000296315:I52L;ENSP00000341071:I84L;ENSP00000410922:I58L;ENSP00000420420:I58L;ENSP00000418826:I23L;ENSP00000417986:I52L	ENSP00000296315:I52L	I	-	1	0	ARHGEF3	56782827	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.743000	0.68655	2.145000	0.66743	0.528000	0.53228	ATC	-	NULL		0.478	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	protein_coding	OTTHUMT00000352431.2	T	NM_019555	-		56807787	-1	no_errors	ENST00000338458	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56807787	T	G	56807787	3	3	196	1	0	0	0	0	1	0	0	0	904	1464	51	5	1462	5	ARHGEF3	3	56807787	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3	56807787	141214643	513	13785	243	2									
HESX1	8820	genome.wustl.edu	37	chr3	57232443	57232443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctgtcttcctctagattCaatttttgagctaagtcttc	5	9	5	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:57232443C>T	ENST00000295934.3	-	3	471	c.435G>A	c.(433-435)ttG>ttA	p.L145L	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	145					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CCTCTAGATTCAATTTTTGAG	0.274																																					Esophageal Squamous(84;267 1272 9034 48993 52677)												0								ENSG00000163666						47	50	49					3																	57232443		2200	4290	6490	HESX1	SO:0001819	synonymous_variant	0			-	HGNC	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"Homeoboxes / PRD class"	4877	protein-coding gene	gene with protein product		601802	"homeobox, ES cell expressed 1"			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.435G>A	3.37:g.57232443C>T		Somatic	0	122	0		0.52429534266604	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	47	48.91	Q52LC5|Q99667	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L145	ENST00000295934.3	37	c.435	CCDS2881.1	3																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.274	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HESX1	protein_coding	OTTHUMT00000351430.2	C		-		57232443	-1	no_errors	ENST00000295934	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57232443	C	T	57232443	2	4	196	1	0	0	0	0	0	0	0	1	7074	825	29	2		2	HESX1	3	57232443	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	424656	57232443	140789987	514	13786											
PDE12	201626	genome.wustl.edu	37	chr3	57543204	57543204	+	Silent	SNP	G	G	A													agcttggtacccgccctagaGgccttcgggctcgagggggt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:57543204G>A	ENST00000311180.8	+	1	1201	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	PDE12_ENST00000487257.1_Silent_p.E366E	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	366					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCGCCCTAGAGGCCTTCGGGC	0.537																																					Colon(125;308 1634 19198 50622 50717)												0								ENSG00000174840						46	48	47					3																	57543204		2203	4300	6503	PDE12	SO:0001819	synonymous_variant	0			-	HGNC	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1098G>A	3.37:g.57543204G>A		Somatic	0	33	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.E366	ENST00000311180.8	37	c.1098	CCDS33772.1	3																																																																																			-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.537	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	protein_coding	OTTHUMT00000351440.2	G	NM_177966	-		57543204	1	no_errors	ENST00000311180	ensembl	human	known	74_37	silent	SNP	0.975	A	A	57543204	G	A	57543204	2	1	196	1	0	0	0	0	0	0	0	1	11634	991	35	2		2	PDE12	3	57543204	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	310761	57543204	140479226	515	13787	244	2									
PDE12	201626	genome.wustl.edu	37	chr3	57543205	57543205	+	Missense_Mutation	SNP	G	G	A													gcttggtacccgccctagagGccttcgggctcgagggggtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:57543205G>A	ENST00000311180.8	+	1	1202	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PDE12_ENST00000487257.1_Missense_Mutation_p.A367T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	367					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGCCCTAGAGGCCTTCGGGCT	0.542																																					Colon(125;308 1634 19198 50622 50717)												0								ENSG00000174840						46	48	47					3																	57543205		2203	4300	6503	PDE12	SO:0001583	missense	0			-	HGNC	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1099G>A	3.37:g.57543205G>A	ENSP00000309142:p.Ala367Thr	Somatic	0	33	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.A367T	ENST00000311180.8	37	c.1099	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768437	0.49680	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.80480	-1.38;-1.38	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);	0.100986	0.64402	D	0.000002	T	0.77785	0.4182	L	0.40543	1.245	0.54753	D	0.999986	P;B	0.37548	0.599;0.232	P;B	0.45167	0.472;0.113	T	0.72763	-0.4195	10	0.16896	T	0.51	-18.3694	14.7807	0.69764	0.0:0.144:0.856:0.0	.	367;367	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	T	367	ENSP00000420626:A367T;ENSP00000309142:A367T	ENSP00000309142:A367T	A	+	1	0	PDE12	57518245	1.000000	0.71417	0.999000	0.59377	0.432000	0.31715	7.425000	0.80255	2.545000	0.85829	0.655000	0.94253	GCC	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.542	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	protein_coding	OTTHUMT00000351440.2	G	NM_177966	-		57543205	1	no_errors	ENST00000311180	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57543205	G	A	57543205	3	1	196	1	0	0	0	0	1	0	0	0	11634	1203	42	2	1101	2	PDE12	3	57543205	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	57543205	140479225	516	13788	244	2									
FLNB	2317	genome.wustl.edu	37	chr3	58149009	58149009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggacaagcggggaacCctgccctggtgtccgcctat	13	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:58149009C>T	ENST00000295956.4	+	43	7315	c.7150C>T	c.(7150-7152)Cct>Tct	p.P2384S	FLNB_ENST00000493452.1_Missense_Mutation_p.P2191S|FLNB-AS1_ENST00000472922.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343S|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415S|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373S|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204S|FLNB-AS1_ENST00000488720.1_RNA	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2384	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCGGGGAACCCTGCCCTGGT	0.587																																																	0								ENSG00000136068						83	73	77					3																	58149009		2203	4300	6503	FLNB	SO:0001583	missense	0			-	HGNC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7150C>T	3.37:g.58149009C>T	ENSP00000295956:p.Pro2384Ser	Somatic	0	80	0		0.52429534266604	303	19.2	72	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	90	14.29	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P2384S	ENST00000295956.4	37	c.7150	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788356	0.70337	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.096122	0.64402	D	0.000001	D	0.93841	0.8030	M	0.80028	2.48	0.80722	D	1	B;D;B;D;B;B	0.76494	0.002;0.973;0.003;0.999;0.006;0.006	B;P;B;D;B;B	0.79108	0.012;0.885;0.037;0.992;0.021;0.032	D	0.94261	0.7502	10	0.72032	D	0.01	.	19.2174	0.93783	0.0:1.0:0.0:0.0	.	2360;2415;2191;2204;2373;2384	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	S	2384;2415;2360;2373;2343;2191;2204	ENSP00000295956:P2384S;ENSP00000420213:P2415S;ENSP00000351339:P2360S;ENSP00000415599:P2373S;ENSP00000232447:P2343S;ENSP00000418510:P2191S;ENSP00000414532:P2204S	ENSP00000295956:P2384S	P	+	1	0	FLNB	58124049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.939000	0.56591	2.602000	0.87976	0.655000	0.94253	CCT	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	C	NM_001457	-		58149009	1	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58149009	C	T	58149009	3	4	196	1	0	0	0	0	1	0	0	0	5936	623	22	2	7417	2	FLNB	3	58149009	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	605804	58149009	139873421	517	13789											
PDZRN3	23024	genome.wustl.edu	37	chr3	73433538	73433538	+	Missense_Mutation	SNP	G	G	A													gatgctggtgttgtagttgcGgaagccgctgttgtgcagca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:73433538G>A	ENST00000263666.4	-	10	2293	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R384C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R384C|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R449C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R444C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	727					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTGTAGTTGCGGAAGCCGCTG	0.597																																																	0								ENSG00000121440						46	41	43					3																	73433538		2203	4300	6503	PDZRN3	SO:0001583	missense	0			-	HGNC	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2179C>T	3.37:g.73433538G>A	ENSP00000263666:p.Arg727Cys	Somatic	0	20	0		0.52429534266604	10	44.44	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP							pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R727C	ENST00000263666.4	37	c.2179	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713668	0.68730	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.10860	2.83;3.53;3.42;3.42;3.53;3.49	4.92	4.05	0.47172	.	0.053789	0.85682	N	0.000000	T	0.32971	0.0847	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	P;D;P;P	0.65874	0.827;0.939;0.886;0.852	T	0.15578	-1.0432	10	0.66056	D	0.02	.	12.717	0.57121	0.0805:0.0:0.9195:0.0	.	449;444;444;727	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	727;449;384;384;444;425	ENSP00000263666:R727C;ENSP00000442026:R449C;ENSP00000418168:R384C;ENSP00000418484:R384C;ENSP00000418624:R444C;ENSP00000419250:R425C	ENSP00000263666:R727C	R	-	1	0	PDZRN3	73516228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.004000	0.70709	1.072000	0.40860	0.591000	0.81541	CGC	-	NULL		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	protein_coding	OTTHUMT00000352460.1	G	XM_041363	-		73433538	-1	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73433538	G	A	73433538	3	1	196	1	0	0	0	0	1	0	0	0	11711	1116	39	1	1025	1	PDZRN3	3	73433538	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	15284529	73433538	124588892	518	13790	245	2									
PDZRN3	23024	genome.wustl.edu	37	chr3	73433539	73433539	+	Silent	SNP	G	G	A													atgctggtgttgtagttgcgGaagccgctgttgtgcagcat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:73433539G>A	ENST00000263666.4	-	10	2292	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PDZRN3_ENST00000466780.1_Silent_p.F383F|PDZRN3_ENST00000462146.2_Silent_p.F383F|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.F448F|PDZRN3_ENST00000479530.1_Silent_p.F443F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	726					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGTAGTTGCGGAAGCCGCTGT	0.597																																																	0								ENSG00000121440						47	42	43					3																	73433539		2203	4300	6503	PDZRN3	SO:0001819	synonymous_variant	0			-	HGNC	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2178C>T	3.37:g.73433539G>A		Somatic	0	20	0		0.52429534266604	11	38.89	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP							pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.F726	ENST00000263666.4	37	c.2178	CCDS33789.1	3																																																																																			-	NULL		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	protein_coding	OTTHUMT00000352460.1	G	XM_041363	-		73433539	-1	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	SNP	1.000	A	A	73433539	G	A	73433539	2	1	196	1	0	0	0	0	0	0	0	1	11711	1165	41	2		2	PDZRN3	3	73433539	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	73433539	124588891	519	13791	245	2									
CNTN3	5067	genome.wustl.edu	37	chr3	74414788	74414788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgccgcttgccctgcattCccaataaagactgtcctcca	6	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:74414788C>T	ENST00000263665.6	-	8	1039	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	338	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCCCTGCATTCCCAATAAAGA	0.453																																																	0								ENSG00000113805						196	196	196					3																	74414788		2203	4300	6503	CNTN3	SO:0001583	missense	0			-	HGNC	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1012G>A	3.37:g.74414788C>T	ENSP00000263665:p.Glu338Lys	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	65	32.29	B9EK50|Q9H039	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E338K	ENST00000263665.6	37	c.1012	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709483	0.68730	.	.	ENSG00000113805	ENST00000263665	T	0.67865	-0.29	5.37	4.49	0.54785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.055879	0.64402	D	0.000001	T	0.73853	0.3640	L	0.55990	1.75	0.58432	D	0.999998	D	0.65815	0.995	D	0.63488	0.915	T	0.69833	-0.5038	10	0.09590	T	0.72	.	16.0169	0.80445	0.0:0.8651:0.1349:0.0	.	338	Q9P232	CNTN3_HUMAN	K	338	ENSP00000263665:E338K	ENSP00000263665:E338K	E	-	1	0	CNTN3	74497478	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	4.698000	0.61789	1.224000	0.43551	0.591000	0.81541	GAA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.453	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	protein_coding	OTTHUMT00000352306.1	C	NM_020872	-		74414788	-1	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74414788	C	T	74414788	3	4	196	1	0	0	0	0	1	0	0	0	3644	864	30	2	2134	2	CNTN3	3	74414788	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	981249	74414788	123607642	520	13792											
GBE1	2632	genome.wustl.edu	37	chr3	81548274	81548274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttaccaaaagagaatagGgacgcccattatgttcaaaa	7	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:81548274G>A	ENST00000429644.2	-	15	2682	c.2039C>T	c.(2038-2040)cCc>cTc	p.P680L	GBE1_ENST00000489715.1_Missense_Mutation_p.P639L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	680					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AAGAGAATAGGGACGCCCATT	0.348									Glycogen Storage Disease, type IV																																								0								ENSG00000114480						79	72	74					3																	81548274		1813	4083	5896	GBE1	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-	HGNC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.2039C>T	3.37:g.81548274G>A	ENSP00000410833:p.Pro680Leu	Somatic	0	94	0		0.52429534266604	107	6.84	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	98	17.65	B3KWV3|Q96EN0	Missense_Mutation	SNP							pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.P680L	ENST00000429644.2	37	c.2039	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375107	0.42105	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	T;T	0.78246	-1.16;-1.16	5.35	4.45	0.53987	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.357212	0.29152	N	0.012987	T	0.79741	0.4498	M	0.85777	2.775	0.46586	D	0.999111	B	0.32350	0.366	B	0.32022	0.139	T	0.80741	-0.1247	10	0.72032	D	0.01	-5.9847	13.2219	0.59892	0.0:0.0:0.8406:0.1594	.	680	Q04446	GLGB_HUMAN	L	680;731;639;443	ENSP00000410833:P680L;ENSP00000419638:P639L	ENSP00000264326:P731L	P	-	2	0	GBE1	81630964	0.999000	0.42202	0.034000	0.17996	0.864000	0.49448	4.330000	0.59266	1.208000	0.43306	0.650000	0.86243	CCC	-	pfam_A-amylase_b_C		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	protein_coding	OTTHUMT00000352760.2	G		-		81548274	-1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	SNP	0.872	A	A	81548274	G	A	81548274	3	1	196	1	0	0	0	0	1	0	0	0	6272	1232	43	2	77	2	GBE1	3	81548274	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7133486	81548274	116474156	521	13793											
OR5H1	26341	genome.wustl.edu	37	chr3	97851550	97851550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgaggacatggaagaGgaaaatgcaacattgctgac	13	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:97851550G>A	ENST00000354565.2	+	1	9	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	3						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACATGGAAGAGGAAAATGCAA	0.398																																																	0								ENSG00000231192						82	83	83					3																	97851550		2202	4292	6494	OR5H1	SO:0001819	synonymous_variant	0			-	HGNC	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.9G>A	3.37:g.97851550G>A		Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	75	40.00		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E3	ENST00000354565.2	37	c.9	CCDS33797.1	3																																																																																			-	NULL		0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	protein_coding	OTTHUMT00000359100.2	G	NM_001005338	-		97851550	1	no_errors	ENST00000354565	ensembl	human	known	74_37	silent	SNP	0.000	A	A	97851550	G	A	97851550	2	1	196	1	0	0	0	0	0	0	0	1	11161	991	35	2		2	OR5H1	3	97851550	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	16303276	97851550	100170880	522	13794											
GPR128	84873	genome.wustl.edu	37	chr3	100373989	100373989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccatgaagcctcttcctCggcatttcattcttttcatc	6	13	4	1	rs373804273		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:100373989C>T	ENST00000273352.3	+	12	1958	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	GPR128_ENST00000475887.1_Missense_Mutation_p.R269W|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	564					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)	p.R564W(1)		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						GCCTCTTCCTCGGCATTTCAT	0.398																																					Pancreas(87;185 1975 7223 18722)												1	Substitution - Missense(1)	lung(1)						ENSG00000144820						101	97	98					3																	100373989		2203	4300	6503	GPR128	SO:0001583	missense	0			-	HGNC	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.1690C>T	3.37:g.100373989C>T	ENSP00000273352:p.Arg564Trp	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	Q14D94|Q86SQ2	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R564W	ENST00000273352.3	37	c.1690	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014624	0.54468	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.39229	1.09;1.09	5.81	3.03	0.35002	GPCR, family 2-like (1);	1.707210	0.02978	N	0.145287	T	0.61110	0.2321	M	0.85373	2.75	0.09310	N	1	P;D	0.71674	0.661;0.998	B;P	0.56612	0.227;0.802	T	0.18335	-1.0340	10	0.72032	D	0.01	.	2.3777	0.04346	0.1571:0.5282:0.1517:0.163	.	269;564	E9PHI0;Q96K78	.;GP128_HUMAN	W	564;269	ENSP00000273352:R564W;ENSP00000419788:R269W	ENSP00000273352:R564W	R	+	1	2	GPR128	101856679	0.685000	0.27652	0.159000	0.22649	0.801000	0.45260	1.230000	0.32612	0.773000	0.33404	0.655000	0.94253	CGG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.398	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	protein_coding	OTTHUMT00000353236.1	C		-		100373989	1	no_errors	ENST00000273352	ensembl	human	known	74_37	missense	SNP	0.045	T	T	100373989	C	T	100373989	3	4	196	1	0	0	0	0	1	0	0	0	6643	875	31	1	1736	1	GPR128	3	100373989	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2522439	100373989	97648441	523	13795											
ABI3BP	25890	genome.wustl.edu	37	chr3	100470480	100470480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacaaactggcagtgatcttCtccatggcccctctgatcac	7	15	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:100470480C>T	ENST00000284322.5	-	34	3137	c.3028G>A	c.(3028-3030)Gaa>Aaa	p.E1010K	ABI3BP_ENST00000471714.1_Missense_Mutation_p.E1712K|ABI3BP_ENST00000383691.4_Missense_Mutation_p.E964K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1010					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTGATCTTCTCCATGGCCC	0.378																																																	0								ENSG00000154175						72	67	68					3																	100470480		1872	4095	5967	ABI3BP	SO:0001583	missense	0			-	HGNC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.3028G>A	3.37:g.100470480C>T	ENSP00000284322:p.Glu1010Lys	Somatic	0	115	0		0.52429534266604	8	27.27	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	64	40.91	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E1010K	ENST00000284322.5	37	c.3028	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638155	0.87760	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.55234	0.53;0.53;0.53	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.46885	1.475	0.80722	D	1	P;B;B;P	0.40360	0.714;0.042;0.131;0.541	B;B;B;B	0.35039	0.194;0.033;0.132;0.16	T	0.55379	-0.8150	10	0.87932	D	0	-13.9391	20.088	0.97803	0.0:1.0:0.0:0.0	.	964;1010;1712;719	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	K	1712;1010;719;421;964	ENSP00000420524:E1712K;ENSP00000284322:E1010K;ENSP00000373189:E964K	ENSP00000284322:E1010K	E	-	1	0	ABI3BP	101953170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.678000	0.84035	2.739000	0.93911	0.655000	0.94253	GAA	-	NULL		0.378	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	protein_coding	OTTHUMT00000353260.1	C		-		100470480	-1	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100470480	C	T	100470480	3	4	196	1	0	0	0	0	1	0	0	0	91	922	32	2	207	2	ABI3BP	3	100470480	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	96491	100470480	97551950	524	13796											
ABI3BP	25890	genome.wustl.edu	37	chr3	100489667	100489667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgaccacagtgaggTtggtgggtgggttctgtggt	18	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:100489667T>C	ENST00000284322.5	-	29	2637	c.2528A>G	c.(2527-2529)aAc>aGc	p.N843S	ABI3BP_ENST00000471714.1_Missense_Mutation_p.N1545S|ABI3BP_ENST00000383691.4_Missense_Mutation_p.N797S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	843	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CACAGTGAGGTTGGTGGGTGG	0.542																																																	0								ENSG00000154175						205	216	213					3																	100489667		2004	4170	6174	ABI3BP	SO:0001583	missense	0			-	HGNC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2528A>G	3.37:g.100489667T>C	ENSP00000284322:p.Asn843Ser	Somatic	0	99	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	88	38.46	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N843S	ENST00000284322.5	37	c.2528	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.4|29.4	5.002530|5.002530	0.93227|0.93227	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691|ENST00000495591	T;T;T|.	0.61392|.	0.11;0.11;0.11|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76884|0.76884	0.4050|0.4050	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.991;0.999|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.989;0.998|.	T|T	0.77603|0.77603	-0.2526|-0.2526	10|5	0.87932|.	D|.	0|.	-11.1406|-11.1406	16.4578|16.4578	0.84025|0.84025	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	797;843;1545;552|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	S|A	1545;843;552;254;797|899	ENSP00000420524:N1545S;ENSP00000284322:N843S;ENSP00000373189:N797S|.	ENSP00000284322:N843S|.	N|T	-|-	2|1	0|0	ABI3BP|ABI3BP	101972357|101972357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.431000|7.431000	0.80335|0.80335	2.288000|2.288000	0.76882|0.76882	0.482000|0.482000	0.46254|0.46254	AAC|ACC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	protein_coding	OTTHUMT00000353260.1	T		-		100489667	-1	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	SNP	1.000	C	C	100489667	T	C	100489667	3	2	196	1	0	0	0	0	1	0	0	0	91	1725	60	5	727	5	ABI3BP	3	100489667	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	19187	100489667	97532763	525	13797											
ZBTB11	27107	genome.wustl.edu	37	chr3	101375072	101375072	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattttagaccatgcttataGataaaagtctttccacagac	5	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:101375072G>A	ENST00000312938.4	-	7	2647	c.2067C>T	c.(2065-2067)atC>atT	p.I689I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	689					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CATGCTTATAGATAAAAGTCT	0.358																																																	0								ENSG00000066422						80	78	79					3																	101375072		2203	4299	6502	ZBTB11	SO:0001819	synonymous_variant	0			-	HGNC	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2067C>T	3.37:g.101375072G>A		Somatic	0	94	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	71	23.66	Q2NKP9	Silent	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I689	ENST00000312938.4	37	c.2067	CCDS2943.1	3																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	protein_coding	OTTHUMT00000353441.2	G	NM_014415	-		101375072	-1	no_errors	ENST00000312938	ensembl	human	known	74_37	silent	SNP	0.999	A	A	101375072	G	A	101375072	2	1	196	1	0	0	0	0	0	0	0	1	17531	932	33	2		2	ZBTB11	3	101375072	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	885405	101375072	96647358	526	13798											
HHLA2	11148	genome.wustl.edu	37	chr3	108074095	108074095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatctctgaaaacaacatGgaagaaacagggtctttgga	9	8	2	2	rs374073757		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108074095G>A	ENST00000357759.5	+	5	966	c.552G>A	c.(550-552)atG>atA	p.M184I	HHLA2_ENST00000491820.1_Missense_Mutation_p.M184I|HHLA2_ENST00000467562.1_Missense_Mutation_p.M120I|HHLA2_ENST00000489514.2_Missense_Mutation_p.M184I|HHLA2_ENST00000467761.1_Missense_Mutation_p.M184I	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	184	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AAAACAACATGGAAGAAACAG	0.363																																																	0								ENSG00000114455	G	ILE/MET	0,3724		0,0,1862	106	99	101		552	-1.7	0	3		101	1,8179		0,1,4089	no	missense	HHLA2	NM_007072.2	10	0,1,5951	AA,AG,GG		0.0122,0.0,0.0084	benign	184/415	108074095	1,11903	1862	4090	5952	HHLA2	SO:0001583	missense	0			-	HGNC	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.552G>A	3.37:g.108074095G>A	ENSP00000350402:p.Met184Ile	Somatic	0	108	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	83	29.06	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.M184I	ENST00000357759.5	37	c.552	CCDS46883.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.559|7.559	0.664243|0.664243	0.14710|0.14710	0.0|0.0	1.22E-4|1.22E-4	ENSG00000114455|ENSG00000114455	ENST00000482099|ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	.|T;T;T;T;T	.|0.02787	.|4.16;4.16;4.16;4.16;4.16	5.71|5.71	-1.73|-1.73	0.08081|0.08081	.|Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	.|0.990053	.|0.08214	.|N	.|0.980278	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.003;0.006;0.006	.|B;B;B	.|0.06405	.|0.002;0.002;0.002	T|T	0.49466|0.49466	-0.8937|-0.8937	5|9	.|.	.|.	.|.	-4.1049|-4.1049	5.5119|5.5119	0.16886|0.16886	0.4955:0.0:0.3709:0.1336|0.4955:0.0:0.3709:0.1336	.|.	.|120;184;184	.|B4DKN2;C9J7D0;Q9UM44	.|.;.;HHLA2_HUMAN	R|I	87|184;120;184;184;184	.|ENSP00000418284:M184I;ENSP00000418345:M120I;ENSP00000350402:M184I;ENSP00000419207:M184I;ENSP00000417856:M184I	.|.	G|M	+|+	1|3	0|0	HHLA2|HHLA2	109556785|109556785	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.079000|-0.079000	0.11357|0.11357	-0.053000|-0.053000	0.13289|0.13289	0.655000|0.655000	0.94253|0.94253	GGA|ATG	-	pfam_Ig_C1-set,pfscan_Ig-like_dom		0.363	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHLA2	protein_coding	OTTHUMT00000353924.1	G	NM_007072	-		108074095	1	no_errors	ENST00000357759	ensembl	human	known	74_37	missense	SNP	0.000	A	A	108074095	G	A	108074095	3	1	196	1	0	0	0	0	1	0	0	0	7097	1348	47	2	562	2	HHLA2	3	108074095	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6699023	108074095	89948335	527	13799											
MYH15	22989	genome.wustl.edu	37	chr3	108107885	108107885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctctgcactgcgacGgatttcaccctccagttcac	9	16	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108107885G>A	ENST00000273353.3	-	39	5583	c.5527C>T	c.(5527-5529)Cgt>Tgt	p.R1843C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1843						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1843C(1)		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						GCACTGCGACGGATTTCACCC	0.537																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000144821						115	120	119					3																	108107885		2058	4204	6262	MYH15	SO:0001583	missense	0			-	HGNC	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.5527C>T	3.37:g.108107885G>A	ENSP00000273353:p.Arg1843Cys	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	43	35.71		Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R1843C	ENST00000273353.3	37	c.5527	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322325	0.81580	.	.	ENSG00000144821	ENST00000273353	D	0.84070	-1.8	5.75	-2.86	0.05717	Myosin tail (1);	.	.	.	.	D	0.89458	0.6721	M	0.89715	3.055	0.19300	N	0.999973	D	0.76494	0.999	D	0.67900	0.954	T	0.79727	-0.1682	9	0.87932	D	0	.	5.7345	0.18059	0.3014:0.0:0.5187:0.1798	.	1843	Q9Y2K3	MYH15_HUMAN	C	1843	ENSP00000273353:R1843C	ENSP00000273353:R1843C	R	-	1	0	MYH15	109590575	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	0.093000	0.15086	-0.151000	0.11176	-0.140000	0.14226	CGT	-	pfam_Myosin_tail		0.537	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	G	XM_036988	-		108107885	-1	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	SNP	0.000	A	A	108107885	G	A	108107885	3	1	196	1	0	0	0	0	1	0	0	0	10036	1116	39	1	329	1	MYH15	3	108107885	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	33790	108107885	89914545	528	13800											
RETNLB	84666	genome.wustl.edu	37	chr3	108474705	108474705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtttccagctgaacatCccacgaaccacagccatagc	9	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108474705C>T	ENST00000295755.6	-	3	454	c.256G>A	c.(256-258)Gat>Aat	p.D86N	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	86					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGAACATCCCACGAACCA	0.572																																																	0								ENSG00000163515						89	82	84					3																	108474705		2203	4300	6503	RETNLB	SO:0001583	missense	0			-	HGNC	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.256G>A	3.37:g.108474705C>T	ENSP00000295755:p.Asp86Asn	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	50	25.37	Q14D27	Missense_Mutation	SNP							pfam_Resistin,superfamily_Resistin	p.D86N	ENST00000295755.6	37	c.256	CCDS2953.1	3	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521125	0.44866	.	.	ENSG00000163515	ENST00000295755	T	0.50277	0.75	4.14	2.33	0.28932	.	0.134283	0.33161	N	0.005210	T	0.34454	0.0898	L	0.53249	1.67	0.30044	N	0.812332	P	0.41366	0.747	B	0.32805	0.153	T	0.32375	-0.9909	10	0.44086	T	0.13	-2.7335	7.3981	0.26948	0.0:0.7833:0.0:0.2167	.	86	Q9BQ08	RETNB_HUMAN	N	86	ENSP00000295755:D86N	ENSP00000295755:D86N	D	-	1	0	RETNLB	109957395	0.994000	0.37717	0.089000	0.20774	0.098000	0.18820	1.019000	0.30014	0.395000	0.25257	0.655000	0.94253	GAT	-	pfam_Resistin,superfamily_Resistin		0.572	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	protein_coding	OTTHUMT00000355093.1	C		-		108474705	-1	no_errors	ENST00000295755	ensembl	human	known	74_37	missense	SNP	0.928	T	T	108474705	C	T	108474705	3	4	196	1	0	0	0	0	1	0	0	0	13245	855	30	2	83	2	RETNLB	3	108474705	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	366820	108474705	89547725	529	13801											
GUCA1C	9626	genome.wustl.edu	37	chr3	108672518	108672518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgtttgcaggccggatGgatattccatcataaatgtt	11	6	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108672518G>A	ENST00000261047.3	-	1	224	c.92C>T	c.(91-93)cCa>cTa	p.P31L	GUCA1C_ENST00000471108.1_Missense_Mutation_p.P31L|GUCA1C_ENST00000393963.3_Missense_Mutation_p.P31L	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CAGGCCGGATGGATATTCCAT	0.398																																					NSCLC(157;1360 1999 30631 40189 44208)												0								ENSG00000138472						173	174	174					3																	108672518		2203	4300	6503	GUCA1C	SO:0001583	missense	0			-	HGNC	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.92C>T	3.37:g.108672518G>A	ENSP00000261047:p.Pro31Leu	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	O95844|Q9UNM0	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.P31L	ENST00000261047.3	37	c.92	CCDS2954.1	3	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606244	0.66445	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.68181	-0.31;-0.31;-0.31	5.75	2.97	0.34412	EF-hand-like domain (1);	0.105384	0.64402	N	0.000002	T	0.82125	0.4969	M	0.89353	3.025	0.58432	D	0.999999	D;P	0.89917	1.0;0.929	D;B	0.97110	1.0;0.307	T	0.82378	-0.0487	10	0.87932	D	0	.	9.877	0.41209	0.209:0.0:0.791:0.0	.	31;31	C9JNI2;O95843	.;GUC1C_HUMAN	L	31	ENSP00000377535:P31L;ENSP00000261047:P31L;ENSP00000417761:P31L	ENSP00000261047:P31L	P	-	2	0	GUCA1C	110155208	1.000000	0.71417	0.019000	0.16419	0.749000	0.42624	5.502000	0.66956	0.437000	0.26423	0.650000	0.86243	CCA	-	prints_Recoverin		0.398	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	protein_coding	OTTHUMT00000353819.1	G	NM_005459	-		108672518	-1	no_errors	ENST00000261047	ensembl	human	known	74_37	missense	SNP	0.951	A	A	108672518	G	A	108672518	3	1	196	1	0	0	0	0	1	0	0	0	6892	1348	47	2	553	2	GUCA1C	3	108672518	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	197813	108672518	89349912	530	13802											
DPPA2	151871	genome.wustl.edu	37	chr3	109027921	109027921	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagcctcagataaacttcGattttcttaggaaatgaaga	8	6	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000163530						178	171	173					3																	109027921		2203	4300	6503	DPPA2	SO:0001819	synonymous_variant	0			-	HGNC	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.348C>T	3.37:g.109027921G>A		Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	Q8WVF0	Silent	SNP							pfscan_SAP_dom	p.I116	ENST00000478945.1	37	c.348	CCDS2956.1	3																																																																																			-	pfscan_SAP_dom		0.408	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	protein_coding	OTTHUMT00000353938.1	G	NM_138815	-		109027921	-1	no_errors	ENST00000478945	ensembl	human	known	74_37	silent	SNP	0.870	A	A	109027921	G	A	109027921	2	1	196	1	0	0	0	0	0	0	0	1	4736	1048	37	1		1	DPPA2	3	109027921	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	355403	109027921	88994509	531	13803											
PHLDB2	90102	genome.wustl.edu	37	chr3	111603786	111603786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaacgaacaaaacttgggGaaaaggatctacctcatagc	8	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:111603786G>A	ENST00000431670.2	+	2	1273	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	PHLDB2_ENST00000477695.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E288K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E315K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	288						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAAACTTGGGGAAAAGGATCT	0.443																																																	0								ENSG00000144824						62	61	62					3																	111603786		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.862G>A	3.37:g.111603786G>A	ENSP00000405405:p.Glu288Lys	Somatic	0	46	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E288K	ENST00000431670.2	37	c.862	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148122	0.57151	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.33654	1.43;1.45;1.44;1.4;1.45;1.44	5.4	5.4	0.78164	.	0.295525	0.39020	N	0.001485	T	0.38772	0.1053	L	0.44542	1.39	0.35843	D	0.82616	B;P;P;B;B	0.49559	0.084;0.675;0.925;0.277;0.449	B;B;P;B;B	0.47162	0.036;0.23;0.54;0.116;0.154	T	0.38628	-0.9652	10	0.30854	T	0.27	.	16.4564	0.84019	0.0:0.0:1.0:0.0	.	288;288;288;288;315	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	315;315;288;288;288;288;288;288;288	ENSP00000377500:E315K;ENSP00000405405:E288K;ENSP00000405292:E288K;ENSP00000418296:E288K;ENSP00000377502:E288K;ENSP00000418319:E288K	ENSP00000352764:E315K	E	+	1	0	PHLDB2	113086476	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.950000	0.70265	2.703000	0.92315	0.655000	0.94253	GAA	-	NULL		0.443	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	G	NM_145753	-		111603786	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	0.998	A	A	111603786	G	A	111603786	3	1	196	1	0	0	0	0	1	0	0	0	11854	1175	41	2	949	2	PHLDB2	3	111603786	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2575865	111603786	86418644	532	13804											
PHLDB2	90102	genome.wustl.edu	37	chr3	111604149	111604149	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaaccccccagcctgccCttcgggaacggaaaagcagt	11	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:111604149C>A	ENST00000431670.2	+	2	1636	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I	PHLDB2_ENST00000477695.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L409I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L436I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	409						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCAGCCTGCCCTTCGGGAACG	0.522																																																	0								ENSG00000144824						64	69	68					3																	111604149		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1225C>A	3.37:g.111604149C>A	ENSP00000405405:p.Leu409Ile	Somatic	0	43	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L409I	ENST00000431670.2	37	c.1225	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803852	0.50315	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.33654	1.4;1.42;1.41;1.41;1.42;1.41	5.78	4.9	0.64082	.	0.274213	0.34725	N	0.003734	T	0.28167	0.0695	L	0.50333	1.59	0.09310	N	0.999992	B;B;P;B;B	0.37731	0.003;0.051;0.607;0.021;0.021	B;B;B;B;B	0.30782	0.002;0.025;0.12;0.037;0.037	T	0.21759	-1.0236	10	0.37606	T	0.19	.	9.7355	0.40386	0.1401:0.7857:0.0:0.0742	.	409;409;409;409;436	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	436;436;409;409;409;409;409;409;409	ENSP00000377500:L436I;ENSP00000405405:L409I;ENSP00000405292:L409I;ENSP00000418296:L409I;ENSP00000377502:L409I;ENSP00000418319:L409I	ENSP00000352764:L436I	L	+	1	0	PHLDB2	113086839	0.020000	0.18652	0.820000	0.32676	0.992000	0.81027	0.954000	0.29175	1.584000	0.49913	0.655000	0.94253	CTT	-	NULL		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	C	NM_145753	-		111604149	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	0.256	A	A	111604149	C	A	111604149	3	1	196	1	0	0	0	0	1	0	0	0	11854	681	24	3	1312	3	PHLDB2	3	111604149	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	363	111604149	86418281	533	13805											
BTLA	151888	genome.wustl.edu	37	chr3	112198324	112198324	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcacataaagagttgttgaGtggctttcaatgagattaga	11	4	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:112198324G>C	ENST00000334529.5	-	2	583	c.381C>G	c.(379-381)caC>caG	p.H127Q	BTLA_ENST00000383680.4_Missense_Mutation_p.H127Q	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	127	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				GAGTTGTTGAGTGGCTTTCAA	0.383																																																	0								ENSG00000186265						145	139	141					3																	112198324		2203	4300	6503	BTLA	SO:0001583	missense	0			-	HGNC	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.381C>G	3.37:g.112198324G>C	ENSP00000333919:p.His127Gln	Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	69	22.47	Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.H127Q	ENST00000334529.5	37	c.381	CCDS33819.1	3	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578912	0.46006	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.10477	2.87;2.87	3.42	-0.747	0.11091	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000167	T	0.20820	0.0501	L	0.54323	1.7	0.31218	N	0.697865	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06041	-1.0849	10	0.66056	D	0.02	-13.5214	6.5148	0.22242	0.5078:0.0:0.4922:0.0	.	127;127	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	Q	127	ENSP00000333919:H127Q;ENSP00000373178:H127Q	ENSP00000333919:H127Q	H	-	3	2	BTLA	113681014	0.656000	0.27385	0.854000	0.33618	0.095000	0.18619	-0.006000	0.12833	-0.172000	0.10779	0.655000	0.94253	CAC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.383	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	protein_coding	OTTHUMT00000354101.1	G	NM_181780	-		112198324	-1	no_errors	ENST00000334529	ensembl	human	known	74_37	missense	SNP	0.887	C	C	112198324	G	C	112198324	3	2	196	1	0	0	0	0	1	0	0	0	1560	1020	36	4	504	4	BTLA	3	112198324	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	594175	112198324	85824106	534	13806											
ZBTB20	26137	genome.wustl.edu	37	chr3	114069530	114069530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcaatggctgcccgatGgacgtgttgaccgaaggctg	15	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:114069530G>A	ENST00000474710.1	-	4	1573	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.S392S|ZBTB20_ENST00000464560.1_Silent_p.S392S|ZBTB20_ENST00000481632.1_Silent_p.S392S|ZBTB20_ENST00000471418.1_Silent_p.S392S|ZBTB20_ENST00000462705.1_Silent_p.S392S|ZBTB20_ENST00000357258.3_Silent_p.S392S|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	465				S -> F (in Ref. 1; AAG28340). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGCCCGATGGACGTGTTGA	0.552																																					NSCLC(69;748 1344 9802 11203 30933)												0								ENSG00000181722						128	86	100					3																	114069530		2203	4300	6503	ZBTB20	SO:0001819	synonymous_variant	0			-	HGNC	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1395C>T	3.37:g.114069530G>A		Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S465	ENST00000474710.1	37	c.1395	CCDS54626.1	3																																																																																			-	NULL		0.552	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	protein_coding	OTTHUMT00000354951.1	G	NM_015642	-		114069530	-1	no_errors	ENST00000474710	ensembl	human	known	74_37	silent	SNP	0.803	A	A	114069530	G	A	114069530	2	1	196	1	0	0	0	0	0	0	0	1	17536	1335	47	2		2	ZBTB20	3	114069530	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1871206	114069530	83952900	535	13807											
C3orf30	152405	genome.wustl.edu	37	chr3	118866202	118866202	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggacaaagaggctgactacaGagtacaaccctgcaaatttg	10	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:118866202G>A	ENST00000295622.1	+	1	1206	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	389										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGACTACAGAGTACAACCC	0.448																																																	0								ENSG00000163424						107	98	101					3																	118866202		2203	4300	6503	C3orf30	SO:0001583	missense	0			-	HGNC	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1166G>A	3.37:g.118866202G>A	ENSP00000295622:p.Arg389Lys	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	36	53.25	A1L4B7	Missense_Mutation	SNP							superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.R389K	ENST00000295622.1	37	c.1166	CCDS2984.1	3	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839975	0.16891	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.16897	2.31	4.35	-0.685	0.11328	.	0.822724	0.10656	N	0.649247	T	0.10937	0.0267	L	0.44542	1.39	0.09310	N	1	P;B	0.37101	0.582;0.02	B;B	0.31686	0.134;0.02	T	0.20571	-1.0271	10	0.39692	T	0.17	-2.4601	4.1679	0.10315	0.2912:0.3329:0.3758:0.0	.	389;389	E9PFE5;Q96M34	.;CC030_HUMAN	K	389	ENSP00000295622:R389K	ENSP00000295622:R389K	R	+	2	0	C3orf30	120348892	0.008000	0.16893	0.000000	0.03702	0.037000	0.13140	0.201000	0.17276	-0.140000	0.11394	-0.176000	0.13171	AGA	-	NULL		0.448	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	protein_coding	OTTHUMT00000354838.1	G	NM_152539	-		118866202	1	no_errors	ENST00000295622	ensembl	human	known	74_37	missense	SNP	0.000	A	A	118866202	G	A	118866202	3	1	196	1	0	0	0	0	1	0	0	0	2222	942	33	2	1168	2	C3orf30	3	118866202	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4796672	118866202	79156228	536	13808											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119120885	119120885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaggcccggcccccacCggaacagctgaaggttttcc	11	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119120885C>T	ENST00000264245.4	+	10	1818	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	429					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P429L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CGGCCCCCACCGGAACAGCTG	0.622																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	pancreas(1)						ENSG00000031081						47	56	53					3																	119120885		1963	4165	6128	ARHGAP31	SO:0001583	missense	0			-	HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1286C>T	3.37:g.119120885C>T	ENSP00000264245:p.Pro429Leu	Somatic	0	60	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	72	20.00	Q9ULL6	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P429L	ENST00000264245.4	37	c.1286	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149169	0.78001	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.26373	1.74	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.50905	0.1643	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.48536	-0.9027	10	0.72032	D	0.01	.	18.5258	0.90971	0.0:1.0:0.0:0.0	.	429	Q2M1Z3	RHG31_HUMAN	L	429	ENSP00000264245:P429L	ENSP00000264245:P429L	P	+	2	0	ARHGAP31	120603575	1.000000	0.71417	0.209000	0.23619	0.452000	0.32318	7.320000	0.79064	2.850000	0.98022	0.655000	0.94253	CCG	-	NULL		0.622	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	C		-		119120885	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	SNP	0.998	T	T	119120885	C	T	119120885	3	4	196	1	0	0	0	0	1	0	0	0	880	652	23	1	1324	1	ARHGAP31	3	119120885	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	254683	119120885	78901545	537	13809											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133768	119133768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggagagagattactGgatgggatgagaaagccctg	14	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119133768G>A	ENST00000264245.4	+	12	3524	c.2992G>A	c.(2992-2994)Gga>Aga	p.G998R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	998					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAGATTACTGGATGGGATGA	0.557																																					Pancreas(7;176 297 5394 51128 51241)												0								ENSG00000031081						52	54	54					3																	119133768		1906	4130	6036	ARHGAP31	SO:0001583	missense	0			-	HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2992G>A	3.37:g.119133768G>A	ENSP00000264245:p.Gly998Arg	Somatic	0	39	0		0.52429534266604	11	47.62	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	Q9ULL6	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G998R	ENST00000264245.4	37	c.2992	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	4.838	0.155753	0.09236	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06768	3.26	5.05	3.24	0.37175	.	0.537286	0.17120	N	0.186252	T	0.06280	0.0162	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33904	-0.9850	10	0.37606	T	0.19	.	5.2752	0.15645	0.1797:0.3234:0.4969:0.0	.	998	Q2M1Z3	RHG31_HUMAN	R	998	ENSP00000264245:G998R	ENSP00000264245:G998R	G	+	1	0	ARHGAP31	120616458	0.016000	0.18221	0.003000	0.11579	0.850000	0.48378	2.032000	0.41127	0.693000	0.31634	0.561000	0.74099	GGA	-	NULL		0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	G		-		119133768	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	SNP	0.000	A	A	119133768	G	A	119133768	3	1	196	1	0	0	0	0	1	0	0	0	880	1349	47	2	3038	2	ARHGAP31	3	119133768	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	12883	119133768	78888662	538	13810											
NR1I2	8856	genome.wustl.edu	37	chr3	119530564	119530564	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actaccttctcccatttcaaGaatttccgggtaggaggaac	8	11	2	1	rs553589290		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119530564G>A	ENST00000337940.4	+	4	675	c.627G>A	c.(625-627)aaG>aaA	p.K209K	NR1I2_ENST00000393716.2_Silent_p.K170K|NR1I2_ENST00000466380.1_Silent_p.K170K	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	170	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|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)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CCCATTTCAAGAATTTCCGGG	0.498																																																	0								ENSG00000144852						87	75	79					3																	119530564		2203	4300	6503	NR1I2	SO:0001819	synonymous_variant	0			-	HGNC	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.627G>A	3.37:g.119530564G>A		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	29	47.27	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.K209	ENST00000337940.4	37	c.627	CCDS2995.1	3																																																																																			-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.498	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	protein_coding	OTTHUMT00000355126.1	G		-		119530564	1	no_errors	ENST00000337940	ensembl	human	known	74_37	silent	SNP	0.997	A	A	119530564	G	A	119530564	2	1	196	1	0	0	0	0	0	0	0	1	10622	933	33	2		2	NR1I2	3	119530564	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	396796	119530564	78491866	539	13811											
GPR156	165829	genome.wustl.edu	37	chr3	119886958	119886958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcccaggcccctcaaGgctttgtgcatatgaggagg	12	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119886958G>A	ENST00000464295.1	-	10	1811	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	GPR156_ENST00000461057.1_Missense_Mutation_p.L452F|GPR156_ENST00000315843.3_Missense_Mutation_p.L456F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	456						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGCCCCTCAAGGCTTTGTGCA	0.537																																																	0								ENSG00000175697						39	41	40					3																	119886958		2203	4300	6503	GPR156	SO:0001583	missense	0			-	HGNC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1366C>T	3.37:g.119886958G>A	ENSP00000417261:p.Leu456Phe	Somatic	0	85	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	81	18.18	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.L456F	ENST00000464295.1	37	c.1366	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031829	0.35797	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.26373	1.74;1.74;1.74	5.54	3.76	0.43208	.	0.611706	0.16384	N	0.216746	T	0.18257	0.0438	L	0.40543	1.245	0.28627	N	0.907864	B;B	0.21905	0.062;0.062	B;B	0.18871	0.023;0.023	T	0.16453	-1.0402	9	.	.	.	0.0313	5.9594	0.19291	0.0722:0.1356:0.6517:0.1405	.	452;456	E9PFZ4;Q8NFN8	.;GP156_HUMAN	F	456;456;452	ENSP00000417261:L456F;ENSP00000324553:L456F;ENSP00000418758:L452F	.	L	-	1	0	GPR156	121369648	0.741000	0.28217	0.138000	0.22173	0.015000	0.08874	1.239000	0.32719	0.897000	0.36392	0.655000	0.94253	CTT	-	NULL		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	protein_coding	OTTHUMT00000355139.1	G	NM_153002	-		119886958	-1	no_errors	ENST00000315843	ensembl	human	known	74_37	missense	SNP	0.752	A	A	119886958	G	A	119886958	3	1	196	1	0	0	0	0	1	0	0	0	6663	1000	35	2	1082	2	GPR156	3	119886958	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	356394	119886958	78135472	540	13812											
STXBP5L	9515	genome.wustl.edu	37	chr3	120840490	120840490	+	Missense_Mutation	SNP	C	C	T													tttgaattgatttaacagatCcactaagactcatccaggtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:120840490C>T	ENST00000273666.6	+	7	879	c.608C>T	c.(607-609)tCc>tTc	p.S203F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S203F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S203F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S203F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S203F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	203					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)		TTTAACAGATCCACTAAGACT	0.303																																																	0								ENSG00000145087						133	122	125					3																	120840490		1833	4073	5906	STXBP5L	SO:0001583	missense	0			-	HGNC	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.608C>T	3.37:g.120840490C>T	ENSP00000273666:p.Ser203Phe	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	Q4G1B4|Q6PIC3	Missense_Mutation	SNP							pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S203F	ENST00000273666.6	37	c.608	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844775	0.91197	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.40225	1.73;1.78;1.54;1.04;1.78;1.78	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055638	0.85682	D	0.000000	T	0.61763	0.2373	M	0.84511	2.7	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.55087	0.768;0.768	T	0.59369	-0.7467	10	0.11794	T	0.64	-8.2186	19.925	0.97099	0.0:1.0:0.0:0.0	.	203;203	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	203	ENSP00000273666:S203F;ENSP00000420019:S203F;ENSP00000419627:S203F;ENSP00000420287:S203F;ENSP00000420666:S203F;ENSP00000420167:S203F	ENSP00000273666:S203F	S	+	2	0	STXBP5L	122323180	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.238000	0.78173	2.810000	0.96702	0.585000	0.79938	TCC	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.303	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	protein_coding	OTTHUMT00000355256.3	C		-		120840490	1	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120840490	C	T	120840490	3	4	196	1	0	0	0	0	1	0	0	0	15364	855	30	2	630	2	STXBP5L	3	120840490	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	953532	120840490	77181940	541	13813	246	2									
STXBP5L	9515	genome.wustl.edu	37	chr3	120840491	120840491	+	Silent	SNP	C	C	T													ttgaattgatttaacagatcCactaagactcatccaggtcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:120840491C>T	ENST00000273666.6	+	7	880	c.609C>T	c.(607-609)tcC>tcT	p.S203S	STXBP5L_ENST00000497029.1_Silent_p.S203S|STXBP5L_ENST00000471454.1_Silent_p.S203S|STXBP5L_ENST00000492541.1_Silent_p.S203S|STXBP5L_ENST00000472879.1_Silent_p.S203S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	203					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)		TTAACAGATCCACTAAGACTC	0.303																																																	0								ENSG00000145087						133	122	126					3																	120840491		1833	4073	5906	STXBP5L	SO:0001819	synonymous_variant	0			-	HGNC	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.609C>T	3.37:g.120840491C>T		Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	Q4G1B4|Q6PIC3	Silent	SNP							pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S203	ENST00000273666.6	37	c.609	CCDS43137.1	3																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.303	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	protein_coding	OTTHUMT00000355256.3	C		-		120840491	1	no_errors	ENST00000273666	ensembl	human	known	74_37	silent	SNP	1.000	T	T	120840491	C	T	120840491	2	4	196	1	0	0	0	0	0	0	0	1	15364	581	21	2		2	STXBP5L	3	120840491	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	120840491	77181939	542	13814	246	2									
POLQ	10721	genome.wustl.edu	37	chr3	121207015	121207015	+	Missense_Mutation	SNP	G	G	A													cacttagttctaatgctctaGgagatactacagtatgattc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121207015G>A	ENST00000264233.5	-	16	4891	c.4763C>T	c.(4762-4764)cCt>cTt	p.P1588L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1588					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAATGCTCTAGGAGATACTAC	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						148	143	145					3																	121207015		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4763C>T	3.37:g.121207015G>A	ENSP00000264233:p.Pro1588Leu	Somatic	0	31	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	O95160|Q6VMB5	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1588L	ENST00000264233.5	37	c.4763	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.660464	0.00107	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	6.17	1.21	0.21127	.	0.873077	0.09966	N	0.732800	T	0.15955	0.0384	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21861	-1.0233	10	0.30078	T	0.28	.	3.7532	0.08575	0.5146:0.0:0.2206:0.2648	.	1588;760	O75417;O75417-2	DPOLQ_HUMAN;.	L	1211;1588;1724	ENSP00000264233:P1588L	ENSP00000264233:P1588L	P	-	2	0	POLQ	122689705	0.071000	0.21146	0.003000	0.11579	0.012000	0.07955	1.149000	0.31626	0.183000	0.20059	-0.302000	0.09304	CCT	-	NULL		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	G	NM_199420	-		121207015	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	0.001	A	A	121207015	G	A	121207015	3	1	196	1	0	0	0	0	1	0	0	0	12210	1000	35	2	3069	2	POLQ	3	121207015	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	366524	121207015	76815415	543	13815	247	3									
POLQ	10721	genome.wustl.edu	37	chr3	121207016	121207016	+	Missense_Mutation	SNP	G	G	A													acttagttctaatgctctagGagatactacagtatgattct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121207016G>A	ENST00000264233.5	-	16	4890	c.4762C>T	c.(4762-4764)Cct>Tct	p.P1588S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1588					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AATGCTCTAGGAGATACTACA	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						147	141	143					3																	121207016		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4762C>T	3.37:g.121207016G>A	ENSP00000264233:p.Pro1588Ser	Somatic	0	31	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	O95160|Q6VMB5	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1588S	ENST00000264233.5	37	c.4762	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.024355	0.02061	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45668	0.89	6.17	2.13	0.27403	.	0.873077	0.09966	N	0.732800	T	0.24236	0.0587	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.18;0.002	B;B	0.23018	0.043;0.004	T	0.19943	-1.0290	10	0.24483	T	0.36	.	9.0135	0.36155	0.3237:0.0:0.6763:0.0	.	1588;760	O75417;O75417-2	DPOLQ_HUMAN;.	S	1211;1588;1724	ENSP00000264233:P1588S	ENSP00000264233:P1588S	P	-	1	0	POLQ	122689706	0.078000	0.21339	0.005000	0.12908	0.012000	0.07955	0.639000	0.24690	0.369000	0.24510	0.655000	0.94253	CCT	-	NULL		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	G	NM_199420	-		121207016	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	0.010	A	A	121207016	G	A	121207016	3	1	196	1	0	0	0	0	1	0	0	0	12210	1174	41	2	3070	2	POLQ	3	121207016	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	121207016	76815414	544	13816	247	3									
POLQ	10721	genome.wustl.edu	37	chr3	121207022	121207022	+	Missense_Mutation	SNP	C	C	A													ttctaatgctctaggagataCtacagtatgattcttctctt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121207022C>A	ENST00000264233.5	-	16	4884	c.4756G>T	c.(4756-4758)Gta>Tta	p.V1586L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1586					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTAGGAGATACTACAGTATGA	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						139	133	135					3																	121207022		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4756G>T	3.37:g.121207022C>A	ENSP00000264233:p.Val1586Leu	Somatic	0	31	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	O95160|Q6VMB5	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.V1586L	ENST00000264233.5	37	c.4756	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	4.128	0.022055	0.08006	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48522	0.81	6.17	2.1	0.27182	.	0.988395	0.08256	N	0.973841	T	0.29158	0.0725	L	0.29908	0.895	0.09310	N	1	B;B	0.33171	0.278;0.4	B;B	0.30029	0.023;0.11	T	0.23332	-1.0191	10	0.30078	T	0.28	.	0.9131	0.01298	0.2697:0.3786:0.1312:0.2206	.	1586;758	O75417;O75417-2	DPOLQ_HUMAN;.	L	1209;1586;1722	ENSP00000264233:V1586L	ENSP00000264233:V1586L	V	-	1	0	POLQ	122689712	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.057000	0.14279	0.431000	0.26258	0.655000	0.94253	GTA	-	NULL		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	C	NM_199420	-		121207022	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	0.000	A	A	121207022	C	A	121207022	3	1	196	1	0	0	0	0	1	0	0	0	12210	565	20	3	3076	3	POLQ	3	121207022	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6	121207022	76815408	545	13817	247	3									
GOLGB1	2804	genome.wustl.edu	37	chr3	121411130	121411130	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcagtctccagttgttcatAactgaacttagaattttgaa	6	7	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121411130A>T	ENST00000340645.5	-	14	7191	c.7066T>A	c.(7066-7068)Tat>Aat	p.Y2356N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Y2361N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2356					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTGTTCATAACTGAACTTA	0.368																																																	0								ENSG00000173230						83	82	83					3																	121411130		2203	4300	6503	GOLGB1	SO:0001583	missense	0			-	HGNC	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7066T>A	3.37:g.121411130A>T	ENSP00000341848:p.Tyr2356Asn	Somatic	0	30	0		0.52429534266604	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Y2356N	ENST00000340645.5	37	c.7066	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648491	0.29336	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.12879	2.64;2.64	6.03	3.63	0.41609	.	0.318365	0.27366	N	0.019698	T	0.18635	0.0447	L	0.44542	1.39	0.25482	N	0.98773	D;B;B	0.63880	0.993;0.01;0.144	P;B;B	0.59487	0.858;0.01;0.053	T	0.07809	-1.0753	10	0.27082	T	0.32	.	4.3319	0.11067	0.6075:0.0:0.0813:0.3112	.	2361;2361;2356	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	N	2356;2361	ENSP00000341848:Y2356N;ENSP00000377275:Y2361N	ENSP00000341848:Y2356N	Y	-	1	0	GOLGB1	122893820	0.972000	0.33761	1.000000	0.80357	0.943000	0.58893	1.971000	0.40530	1.053000	0.40415	0.533000	0.62120	TAT	-	NULL		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	A	NM_004487	-		121411130	-1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	SNP	0.996	T	T	121411130	A	T	121411130	3	4	196	1	0	0	0	0	1	0	0	0	6567	362	13	5	2749	5	GOLGB1	3	121411130	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	204108	121411130	76611300	546	13818											
MYLK	4638	genome.wustl.edu	37	chr3	123401113	123401113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagagctcttgggcctccGggatttcatctctggggcct	13	11	3	1	rs151294221		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:123401113G>A	ENST00000475616.1	-	17	3609	c.3610C>T	c.(3610-3612)Cgg>Tgg	p.R1204W	MYLK_ENST00000360772.3_Missense_Mutation_p.R1204W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1135W|MYLK_ENST00000360304.3_Missense_Mutation_p.R1204W|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000359169.1_Missense_Mutation_p.R1204W|MYLK_ENST00000354792.5_Missense_Mutation_p.R4W			Q15746	MYLK_HUMAN	myosin light chain kinase	1204	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				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)		TTGGGCCTCCGGGATTTCATC	0.567																																																	0								ENSG00000065534	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	61	54	57		3610,3403,3610,3403	3.7	1	3	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	101,101,101,101	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1204/1915,1135/1846,1204/1864,1135/1795	123401113	3,13001	2202	4300	6502	MYLK	SO:0001583	missense	0			-	HGNC	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.3610C>T	3.37:g.123401113G>A	ENSP00000418335:p.Arg1204Trp	Somatic	0	70	0		0.52429534266604	5	58.33	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	64	24.71	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1204W	ENST00000475616.1	37	c.3610	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046213	0.75846	0.0	3.49E-4	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.67865	-0.29;-0.23;-0.29;-0.23;-0.03;-0.23;1.02	4.56	3.66	0.41972	.	.	.	.	.	T	0.70378	0.3217	L	0.29908	0.895	0.30911	N	0.729061	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.999;0.997	D;D;D;D;D;P	0.72338	0.951;0.951;0.977;0.928;0.971;0.881	T	0.69503	-0.5128	9	0.87932	D	0	.	9.9165	0.41436	0.0:0.0:0.7969:0.2031	.	1204;282;1135;1204;1135;1204	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	W	1204;1204;1204;1135;4;1204;4	ENSP00000354004:R1204W;ENSP00000353452:R1204W;ENSP00000352088:R1204W;ENSP00000320622:R1135W;ENSP00000346846:R4W;ENSP00000418335:R1204W;ENSP00000422984:R4W	ENSP00000320622:R1135W	R	-	1	2	MYLK	124883803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	1.214000	0.43395	0.561000	0.74099	CGG	-	NULL		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	protein_coding	OTTHUMT00000356464.1	G	NM_053025	rs151294221		123401113	-1	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	SNP	0.999	A	A	123401113	G	A	123401113	3	1	196	1	0	0	0	0	1	0	0	0	10058	1115	39	1	2194	1	MYLK	3	123401113	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1989983	123401113	74621317	547	13819											
KALRN	8997	genome.wustl.edu	37	chr3	124351509	124351509	+	Missense_Mutation	SNP	C	C	T													ttgacctgggatctcccaagCctggggatgaaacaacccct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:124351509C>T	ENST00000291478.5	+	2	491	c.328C>T	c.(328-330)Cct>Tct	p.P110S	KALRN_ENST00000428018.2_Missense_Mutation_p.P110S|KALRN_ENST00000393496.1_Missense_Mutation_p.P180S|KALRN_ENST00000360013.3_Missense_Mutation_p.P1807S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1807	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCTCCCAAGCCTGGGGATGA	0.552																																																	0								ENSG00000160145						91	95	94					3																	124351509		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.328C>T	3.37:g.124351509C>T	ENSP00000291478:p.Pro110Ser	Somatic	0	43	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	13.16	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P1807S	ENST00000291478.5	37	c.5419	CCDS3028.1	3	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009876	0.35415	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	T;T;T;T	0.60040	0.25;0.71;0.29;0.22	5.01	4.07	0.47477	.	0.246051	0.34046	N	0.004305	T	0.31827	0.0809	N	0.04508	-0.205	0.28843	N	0.896503	B;B;B	0.16396	0.001;0.017;0.001	B;B;B	0.12837	0.003;0.008;0.002	T	0.12863	-1.0531	10	0.31617	T	0.26	.	9.7819	0.40653	0.1912:0.6897:0.119:0.0	.	110;180;1807	C9JQ37;O60229-5;O60229	.;.;KALRN_HUMAN	S	1807;180;110;110;110	ENSP00000353109:P1807S;ENSP00000377134:P180S;ENSP00000291478:P110S;ENSP00000402419:P110S	ENSP00000291478:P110S	P	+	1	0	KALRN	125834199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.525000	0.35953	2.613000	0.88420	0.511000	0.50034	CCT	-	NULL		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000246891.5	C	NM_003947	-		124351509	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124351509	C	T	124351509	3	4	196	1	0	0	0	0	1	0	0	0	7977	739	26	2	5713	2	KALRN	3	124351509	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	950396	124351509	73670921	548	13820	248	2									
KALRN	8997	genome.wustl.edu	37	chr3	124351510	124351510	+	Missense_Mutation	SNP	C	C	T													tgacctgggatctcccaagcCtggggatgaaacaacccctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:124351510C>T	ENST00000291478.5	+	2	492	c.329C>T	c.(328-330)cCt>cTt	p.P110L	KALRN_ENST00000428018.2_Missense_Mutation_p.P110L|KALRN_ENST00000393496.1_Missense_Mutation_p.P180L|KALRN_ENST00000360013.3_Missense_Mutation_p.P1807L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1807	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCCCAAGCCTGGGGATGAA	0.552																																																	0								ENSG00000160145						91	95	93					3																	124351510		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.329C>T	3.37:g.124351510C>T	ENSP00000291478:p.Pro110Leu	Somatic	0	43	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	13.16	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P1807L	ENST00000291478.5	37	c.5420	CCDS3028.1	3	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309488	0.60414	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	T;T;T;T	0.60672	0.2;0.66;0.24;0.17	5.01	5.01	0.66863	.	0.246051	0.34046	N	0.004305	T	0.38427	0.1040	N	0.03608	-0.345	0.44366	D	0.997261	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.09377	0.0;0.003;0.004	T	0.31251	-0.9950	10	0.62326	D	0.03	.	18.5089	0.90909	0.0:1.0:0.0:0.0	.	110;180;1807	C9JQ37;O60229-5;O60229	.;.;KALRN_HUMAN	L	1807;180;110;110;110	ENSP00000353109:P1807L;ENSP00000377134:P180L;ENSP00000291478:P110L;ENSP00000402419:P110L	ENSP00000291478:P110L	P	+	2	0	KALRN	125834200	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	2.613000	0.88420	0.511000	0.50034	CCT	-	NULL		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000246891.5	C	NM_003947	-		124351510	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124351510	C	T	124351510	3	4	196	1	0	0	0	0	1	0	0	0	7977	681	24	2	5714	2	KALRN	3	124351510	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	124351510	73670920	549	13821	248	2									
EEFSEC	60678	genome.wustl.edu	37	chr3	127981041	127981041	+	Missense_Mutation	SNP	C	C	T													aggcccccgaaactgaagctCcacagggcattccagagctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127981041C>T	ENST00000254730.6	+	3	649	c.595C>T	c.(595-597)Cca>Tca	p.P199S	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P199S	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	199	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACTGAAGCTCCACAGGGCAT	0.572																																																	0								ENSG00000132394						86	98	94					3																	127981041		2203	4300	6503	EEFSEC	SO:0001583	missense	0			-	HGNC		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.595C>T	3.37:g.127981041C>T	ENSP00000254730:p.Pro199Ser	Somatic	0	34	0		0.52429534266604	45	16.67	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	37	35.09	Q96HZ6	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.P199S	ENST00000254730.6	37	c.595	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351461	0.24512	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.55052	0.88;0.54	5.31	3.39	0.38822	Protein synthesis factor, GTP-binding (1);	0.173031	0.52532	D	0.000079	T	0.37892	0.1020	N	0.11313	0.125	0.44214	D	0.997045	P;B	0.51057	0.941;0.223	P;B	0.48425	0.577;0.17	T	0.18808	-1.0325	10	0.36615	T	0.2	.	10.3769	0.44088	0.1514:0.7028:0.1457:0.0	.	199;199	C9J8T0;P57772	.;SELB_HUMAN	S	199	ENSP00000254730:P199S;ENSP00000417660:P199S	ENSP00000254730:P199S	P	+	1	0	EEFSEC	129463731	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	2.638000	0.46562	1.224000	0.43551	-0.169000	0.13324	CCA	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.572	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	protein_coding	OTTHUMT00000356738.2	C	NM_021937	-		127981041	1	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127981041	C	T	127981041	3	4	196	1	0	0	0	0	1	0	0	0	4933	855	30	2	605	2	EEFSEC	3	127981041	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3629531	127981041	70041389	550	13822	249	2									
EEFSEC	60678	genome.wustl.edu	37	chr3	127981042	127981042	+	Missense_Mutation	SNP	C	C	T													ggcccccgaaactgaagctcCacagggcattccagagctca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127981042C>T	ENST00000254730.6	+	3	650	c.596C>T	c.(595-597)cCa>cTa	p.P199L	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P199L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	199	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACTGAAGCTCCACAGGGCATT	0.577																																																	0								ENSG00000132394						85	97	93					3																	127981042		2203	4300	6503	EEFSEC	SO:0001583	missense	0			-	HGNC		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.596C>T	3.37:g.127981042C>T	ENSP00000254730:p.Pro199Leu	Somatic	0	35	0		0.52429534266604	43	17.31	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	38	33.33	Q96HZ6	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.P199L	ENST00000254730.6	37	c.596	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378499	0.42207	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.54675	0.8;0.56	5.46	5.46	0.80206	Protein synthesis factor, GTP-binding (1);	0.173031	0.52532	D	0.000079	T	0.64170	0.2574	L	0.50333	1.59	0.80722	D	1	P;D	0.53885	0.555;0.963	B;P	0.58130	0.178;0.833	T	0.63409	-0.6644	10	0.48119	T	0.1	.	17.4963	0.87718	0.0:1.0:0.0:0.0	.	199;199	C9J8T0;P57772	.;SELB_HUMAN	L	199	ENSP00000254730:P199L;ENSP00000417660:P199L	ENSP00000254730:P199L	P	+	2	0	EEFSEC	129463732	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.392000	0.66272	2.551000	0.86045	0.655000	0.94253	CCA	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.577	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	protein_coding	OTTHUMT00000356738.2	C	NM_021937	-		127981042	1	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127981042	C	T	127981042	3	4	196	1	0	0	0	0	1	0	0	0	4933	594	21	2	606	2	EEFSEC	3	127981042	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	127981042	70041388	551	13823	249	2									
EEFSEC	60678	genome.wustl.edu	37	chr3	127981053	127981053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagctccacagggcattCcagagctcattgaggtactg	11	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127981053C>T	ENST00000254730.6	+	3	661	c.607C>T	c.(607-609)Cca>Tca	p.P203S	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P203S	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	203	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACAGGGCATTCCAGAGCTCAT	0.577																																																	0								ENSG00000132394						82	92	89					3																	127981053		2203	4300	6503	EEFSEC	SO:0001583	missense	0			-	HGNC		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.607C>T	3.37:g.127981053C>T	ENSP00000254730:p.Pro203Ser	Somatic	0	31	0		0.52429534266604	35	20.45	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	Q96HZ6	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.P203S	ENST00000254730.6	37	c.607	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368466	0.11352	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.69926	-0.44;-0.44	5.46	-2.79	0.05841	Protein synthesis factor, GTP-binding (1);	0.470827	0.24377	N	0.039060	T	0.38904	0.1058	N	0.12611	0.24	0.28271	N	0.924405	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.004	T	0.33752	-0.9856	10	0.08837	T	0.75	.	10.8203	0.46601	0.0:0.469:0.0:0.531	.	203;203	C9J8T0;P57772	.;SELB_HUMAN	S	203	ENSP00000254730:P203S;ENSP00000417660:P203S	ENSP00000254730:P203S	P	+	1	0	EEFSEC	129463743	0.582000	0.26749	0.777000	0.31699	0.010000	0.07245	0.144000	0.16135	-0.824000	0.04295	-0.302000	0.09304	CCA	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.577	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	protein_coding	OTTHUMT00000356738.2	C	NM_021937	-		127981053	1	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	SNP	0.532	T	T	127981053	C	T	127981053	3	4	196	1	0	0	0	0	1	0	0	0	4933	855	30	2	617	2	EEFSEC	3	127981053	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	11	127981053	70041377	552	13824											
DNAJB8	165721	genome.wustl.edu	37	chr3	128181649	128181649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgttgaaggatgagaagGcctccatgaaggccggaaat	14	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:128181649G>A	ENST00000469083.1	-	2	2997	c.440C>T	c.(439-441)gCc>gTc	p.A147V	DNAJB8_ENST00000319153.3_Missense_Mutation_p.A147V|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	147					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGATGAGAAGGCCTCCATGAA	0.622																																																	0								ENSG00000179407						41	48	45					3																	128181649		2203	4300	6503	DNAJB8	SO:0001583	missense	0			-	HGNC		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.440C>T	3.37:g.128181649G>A	ENSP00000417418:p.Ala147Val	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	83	17.82	B3KWV7	Missense_Mutation	SNP							pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A147V	ENST00000469083.1	37	c.440	CCDS3048.1	3	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243788	0.39697	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.44482	0.92;0.92	4.75	4.75	0.60458	.	1.289410	0.05580	N	0.572702	T	0.65811	0.2727	M	0.71581	2.175	0.37866	D	0.929909	D	0.63880	0.993	D	0.70227	0.968	T	0.50939	-0.8768	10	0.37606	T	0.19	.	13.2508	0.60050	0.0:0.0:1.0:0.0	.	147	Q8NHS0	DNJB8_HUMAN	V	147	ENSP00000417418:A147V;ENSP00000316053:A147V	ENSP00000316053:A147V	A	-	2	0	DNAJB8	129664339	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	3.476000	0.53143	2.182000	0.69389	0.561000	0.74099	GCC	-	NULL		0.622	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJB8	protein_coding	OTTHUMT00000356933.1	G	NM_153330	-		128181649	-1	no_errors	ENST00000319153	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128181649	G	A	128181649	3	1	196	1	0	0	0	0	1	0	0	0	4628	1203	42	2	262	2	DNAJB8	3	128181649	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	200596	128181649	69840781	553	13825											
C3orf27	23434	genome.wustl.edu	37	chr3	128292214	128292214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaacacagctggaaaccaGagcttgatgtctgggaggga	15	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:128292214G>A	ENST00000356020.2	-	3	1325	c.359C>T	c.(358-360)tCt>tTt	p.S120F		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	120										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CTGGAAACCAGAGCTTGATGT	0.572																																																	0								ENSG00000198685						62	68	66					3																	128292214		2203	4300	6503	C3orf27	SO:0001583	missense	0			-	HGNC	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.359C>T	3.37:g.128292214G>A	ENSP00000348302:p.Ser120Phe	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	38	40.91		Missense_Mutation	SNP							NULL	p.S120F	ENST00000356020.2	37	c.359	CCDS3050.1	3	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414424	0.11870	.	.	ENSG00000198685	ENST00000356020	.	.	.	2.44	-3.74	0.04385	.	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.17433	0.018	T	0.15838	-1.0423	8	0.87932	D	0	.	1.8958	0.03257	0.1239:0.2666:0.3833:0.2262	.	120	O15544	GR6_HUMAN	F	120	.	ENSP00000348302:S120F	S	-	2	0	C3orf27	129774904	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.216000	0.17585	-1.637000	0.01531	-1.961000	0.00478	TCT	-	NULL		0.572	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	protein_coding	OTTHUMT00000356924.1	G	NM_007354	-		128292214	-1	no_errors	ENST00000356020	ensembl	human	known	74_37	missense	SNP	0.000	A	A	128292214	G	A	128292214	3	1	196	1	0	0	0	0	1	0	0	0	2221	942	33	2	94	2	C3orf27	3	128292214	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	110565	128292214	69730216	554	13826											
ACAD9	28976	genome.wustl.edu	37	chr3	128629615	128629615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaccttctgcgtggaagCttacttgcagaatctcttca	7	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:128629615C>T	ENST00000308982.7	+	17	1805	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_Intron|ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	575						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCGTGGAAGCTTACTTGCAG	0.522																																																	0								ENSG00000177646						177	180	179					3																	128629615		2203	4300	6503	ACAD9	SO:0001583	missense	0			-	HGNC	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1724C>T	3.37:g.128629615C>T	ENSP00000312618:p.Ala575Val	Somatic	0	49	0		0.52429534266604	101	37.65	61	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	31	39.22	D3DNB8|Q8WXX3	Missense_Mutation	SNP							pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A575V	ENST00000308982.7	37	c.1724	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272328	0.59649	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.86627	-2.15	5.31	3.47	0.39725	.	0.147176	0.64402	N	0.000009	D	0.88489	0.6450	M	0.88181	2.935	0.80722	D	1	B	0.31752	0.338	B	0.35727	0.209	D	0.86353	0.1712	10	0.66056	D	0.02	.	8.8908	0.35432	0.0:0.7653:0.151:0.0836	.	575	Q9H845	ACAD9_HUMAN	V	575;442	ENSP00000312618:A575V	ENSP00000312618:A575V	A	+	2	0	ACAD9	130112305	0.991000	0.36638	0.332000	0.25469	0.701000	0.40568	3.826000	0.55738	0.688000	0.31529	0.655000	0.94253	GCT	-	superfamily_AcylCo_DH/oxidase_C		0.522	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	protein_coding	OTTHUMT00000358405.1	C	NM_014049	-		128629615	1	no_errors	ENST00000308982	ensembl	human	known	74_37	missense	SNP	0.999	T	T	128629615	C	T	128629615	3	4	196	1	0	0	0	0	1	0	0	0	111	797	28	2	1790	2	ACAD9	3	128629615	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	337401	128629615	69392815	555	13827											
COL6A6	131873	genome.wustl.edu	37	chr3	130287341	130287341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccaatgtcacccagcTtgaggagatcagtgggaggc	14	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:130287341T>G	ENST00000358511.6	+	5	2325	c.2294T>G	c.(2293-2295)cTt>cGt	p.L765R	COL6A6_ENST00000453409.2_Missense_Mutation_p.L765R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	765	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCACCCAGCTTGAGGAGATC	0.463																																																	0								ENSG00000206384						111	113	112					3																	130287341		1918	4123	6041	COL6A6	SO:0001583	missense	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2294T>G	3.37:g.130287341T>G	ENSP00000351310:p.Leu765Arg	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	43	40.28	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L765R	ENST00000358511.6	37	c.2294	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371352	0.82573	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.86230	-2.09;-2.09	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.47093	D	0.000246	D	0.96116	0.8734	H	0.98111	4.15	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	D	0.97712	1.0191	10	0.87932	D	0	.	15.455	0.75305	0.0:0.0:0.0:1.0	.	765	A6NMZ7	CO6A6_HUMAN	R	765	ENSP00000351310:L765R;ENSP00000399236:L765R	ENSP00000351310:L765R	L	+	2	0	COL6A6	131770031	1.000000	0.71417	0.919000	0.36401	0.955000	0.61496	5.966000	0.70395	2.125000	0.65367	0.533000	0.62120	CTT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	T	NM_001102608	-		130287341	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	SNP	0.999	G	G	130287341	T	G	130287341	3	3	196	1	0	0	0	0	1	0	0	0	3705	1609	56	5	2312	5	COL6A6	3	130287341	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1657726	130287341	67735089	556	13828											
CPNE4	131034	genome.wustl.edu	37	chr3	131261456	131261456	+	Missense_Mutation	SNP	C	C	T													tgtctcgaagaacaggctctCccttgggtgacctcagaatc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:131261456C>T	ENST00000512055.1	-	19	3610	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517																																																	0								ENSG00000196353						161	139	147					3																	131261456		2203	4300	6503	CPNE4	SO:0001583	missense	0			-	HGNC	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1484G>A	3.37:g.131261456C>T	ENSP00000421705:p.Gly495Glu	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	51	39.29	D3DNC5|Q8TEX1	Missense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.G513E	ENST00000512055.1	37	c.1538	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.290909	0.95546	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	H	0.96943	3.91	0.80722	D	1	D;D	0.65815	0.972;0.995	P;P	0.60068	0.868;0.831	T	0.77988	-0.2380	10	0.87932	D	0	-12.4331	19.5825	0.95473	0.0:1.0:0.0:0.0	.	513;495	Q96A23-2;Q96A23	.;CPNE4_HUMAN	E	495;495;513;495;513	ENSP00000421705:G495E;ENSP00000411904:G495E;ENSP00000424853:G513E;ENSP00000423811:G495E;ENSP00000421646:G513E	ENSP00000411904:G495E	G	-	2	0	CPNE4	132744146	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.624000	0.88883	0.655000	0.94253	GGA	-	smart_VWF_A		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	protein_coding	OTTHUMT00000356583.4	C	NM_130808	-		131261456	-1	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131261456	C	T	131261456	3	4	196	1	0	0	0	0	1	0	0	0	3816	855	30	2	197	2	CPNE4	3	131261456	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	974115	131261456	66760974	557	13829	250	2									
CPNE4	131034	genome.wustl.edu	37	chr3	131261457	131261457	+	Missense_Mutation	SNP	C	C	T													gtctcgaagaacaggctctcCcttgggtgacctcagaatcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:131261457C>T	ENST00000512055.1	-	19	3609	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	CPNE4_ENST00000429747.1_Missense_Mutation_p.G495R|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513R|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495R|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513R			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACAGGCTCTCCCTTGGGTGAC	0.517																																																	0								ENSG00000196353						161	140	147					3																	131261457		2203	4300	6503	CPNE4	SO:0001583	missense	0			-	HGNC	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1483G>A	3.37:g.131261457C>T	ENSP00000421705:p.Gly495Arg	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	51	39.29	D3DNC5|Q8TEX1	Missense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.G513R	ENST00000512055.1	37	c.1537	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.075831	0.94000	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.75569	-0.3272	10	0.87932	D	0	-12.4331	19.5825	0.95473	0.0:1.0:0.0:0.0	.	513;495	Q96A23-2;Q96A23	.;CPNE4_HUMAN	R	495;495;513;495;513	ENSP00000421705:G495R;ENSP00000411904:G495R;ENSP00000424853:G513R;ENSP00000423811:G495R;ENSP00000421646:G513R	ENSP00000411904:G495R	G	-	1	0	CPNE4	132744147	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.624000	0.88883	0.655000	0.94253	GGA	-	smart_VWF_A		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	protein_coding	OTTHUMT00000356583.4	C	NM_130808	-		131261457	-1	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131261457	C	T	131261457	3	4	196	1	0	0	0	0	1	0	0	0	3816	632	22	2	198	2	CPNE4	3	131261457	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	131261457	66760973	558	13830	250	2									
ACAD11	84129	genome.wustl.edu	37	chr3	132358400	132358400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaattctcttcattgTcattatcgggcaagttcttc	6	9	5	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:132358400T>C	ENST00000264990.6	-	5	1609	c.638A>G	c.(637-639)gAc>gGc	p.D213G	ACAD11_ENST00000355458.3_Missense_Mutation_p.D213G|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.D213G|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	213					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTCTTCATTGTCATTATCGGG	0.403																																																	0								ENSG00000240303						97	93	95					3																	132358400		2203	4300	6503	ACAD11	SO:0001583	missense	0			-	HGNC	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.638A>G	3.37:g.132358400T>C	ENSP00000264990:p.Asp213Gly	Somatic	0	58	0		0.52429534266604	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	52	30.67	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.D213G	ENST00000264990.6	37	c.638	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793165	0.70452	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.30981	1.51;1.51;1.51	5.61	5.61	0.85477	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.58722	0.2142	M	0.81614	2.55	0.80722	D	1	P;D	0.71674	0.943;0.998	P;D	0.77004	0.867;0.989	T	0.64317	-0.6436	9	0.72032	D	0.01	.	15.8027	0.78468	0.0:0.0:0.0:1.0	.	213;213	D6RDI8;Q709F0	.;ACD11_HUMAN	G	213	ENSP00000347636:D213G;ENSP00000264990:D213G;ENSP00000420907:D213G	ENSP00000264990:D213G	D	-	2	0	ACAD11	133841090	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.359000	0.79477	2.129000	0.65627	0.459000	0.35465	GAC	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.403	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	protein_coding	OTTHUMT00000357279.2	T	NM_032169	-		132358400	-1	no_errors	ENST00000264990	ensembl	human	known	74_37	missense	SNP	1.000	C	C	132358400	T	C	132358400	3	2	196	1	0	0	0	0	1	0	0	0	109	1667	58	5	1768	5	ACAD11	3	132358400	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1096943	132358400	65664030	559	13831											
TMEM108	66000	genome.wustl.edu	37	chr3	133099029	133099029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccaccacagcgcccccCcgcactaccacacgcaggcc	7	25	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:133099029C>T	ENST00000321871.6	+	4	684	c.474C>T	c.(472-474)ccC>ccT	p.P158P	TMEM108_ENST00000515826.1_Silent_p.P158P|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Silent_p.P158P	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	158	Pro-rich.					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						CAGCGCCCCCCCGCACTACCA	0.706																																																	0								ENSG00000144868						11	15	13					3																	133099029		2193	4281	6474	TMEM108	SO:0001819	synonymous_variant	0			-	HGNC	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.474C>T	3.37:g.133099029C>T		Somatic	0	16	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP							NULL	p.P158	ENST00000321871.6	37	c.474	CCDS33858.1	3																																																																																			-	NULL		0.706	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	C	NM_023943	-		133099029	1	no_errors	ENST00000321871	ensembl	human	known	74_37	silent	SNP	0.000	T	T	133099029	C	T	133099029	2	4	196	1	0	0	0	0	0	0	0	1	16031	610	22	2		2	TMEM108	3	133099029	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	740629	133099029	64923401	560	13832											
IL20RB	53833	genome.wustl.edu	37	chr3	136701039	136701039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgagccacatctggatcCccagcagctggtgctcactc	9	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:136701039C>T	ENST00000329582.4	+	3	502	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	IL20RB_ENST00000309741.5_Missense_Mutation_p.P38S|IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	85	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATCTGGATCCCCAGCAGCTG	0.557																																																	0								ENSG00000174564						78	73	75					3																	136701039		2203	4300	6503	IL20RB	SO:0001583	missense	0			-	HGNC	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.253C>T	3.37:g.136701039C>T	ENSP00000328133:p.Pro85Ser	Somatic	0	61	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	70	10.26	B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP							pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P85S	ENST00000329582.4	37	c.253	CCDS3093.1	3	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469547	0.63625	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T;T	0.72505	-0.66;-0.66	4.91	4.91	0.64330	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.233211	0.30302	N	0.009935	T	0.72463	0.3463	L	0.35593	1.075	0.34907	D	0.747096	D	0.69078	0.997	D	0.66602	0.945	T	0.71407	-0.4602	10	0.12766	T	0.61	-1.1932	13.9609	0.64177	0.0:1.0:0.0:0.0	.	85	Q6UXL0	I20RB_HUMAN	S	85;38	ENSP00000328133:P85S;ENSP00000311979:P38S	ENSP00000311979:P38S	P	+	1	0	IL20RB	138183729	0.996000	0.38824	1.000000	0.80357	0.939000	0.58152	4.243000	0.58721	2.441000	0.82636	0.491000	0.48974	CCC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RB	protein_coding	OTTHUMT00000357277.2	C	NM_144717	-		136701039	1	no_errors	ENST00000329582	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136701039	C	T	136701039	3	4	196	1	0	0	0	0	1	0	0	0	7671	623	22	2	263	2	IL20RB	3	136701039	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3602010	136701039	61321391	561	13833											
DZIP1L	199221	genome.wustl.edu	37	chr3	137790632	137790632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgctggactctcagcaGggattccaggtgtctgagag	13	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:137790632G>A	ENST00000327532.2	-	12	1830	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.L490L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	490					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACTCTCAGCAGGGATTCCAGG	0.522																																																	0								ENSG00000158163						48	50	49					3																	137790632		2203	4300	6503	DZIP1L	SO:0001819	synonymous_variant	0			-	HGNC	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1468C>T	3.37:g.137790632G>A		Somatic	0	34	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	C9JUG5|Q96M38	Silent	SNP							pfscan_Znf_C2H2	p.L490	ENST00000327532.2	37	c.1468	CCDS3096.1	3																																																																																			-	NULL		0.522	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	protein_coding	OTTHUMT00000357548.1	G	NM_173543	-		137790632	-1	no_errors	ENST00000327532	ensembl	human	known	74_37	silent	SNP	0.000	A	A	137790632	G	A	137790632	2	1	196	1	0	0	0	0	0	0	0	1	4866	991	35	2		2	DZIP1L	3	137790632	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1089593	137790632	60231798	562	13834											
CEP70	80321	genome.wustl.edu	37	chr3	138219583	138219583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtaggtattaccttttcCttattttcaacttcttccag	4	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:138219583C>T	ENST00000264982.3	-	14	1628	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	CEP70_ENST00000489254.1_Silent_p.K302K|CEP70_ENST00000542237.1_Silent_p.K434K|CEP70_ENST00000484888.1_Silent_p.K454K|CEP70_ENST00000481834.1_Silent_p.K454K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	454					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTACCTTTTCCTTATTTTCAA	0.308																																																	0								ENSG00000114107						113	124	120					3																	138219583		2203	4298	6501	CEP70	SO:0001819	synonymous_variant	0			-	HGNC	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1362G>A	3.37:g.138219583C>T		Somatic	0	23	0		0.52429534266604	16	30.43	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP							pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K454	ENST00000264982.3	37	c.1362	CCDS3102.1	3																																																																																			-	NULL		0.308	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	protein_coding	OTTHUMT00000358001.1	C	NM_024491	-		138219583	-1	no_errors	ENST00000264982	ensembl	human	known	74_37	silent	SNP	0.981	T	T	138219583	C	T	138219583	2	4	196	1	0	0	0	0	0	0	0	1	3261	680	24	2		2	CEP70	3	138219583	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	428951	138219583	59802847	563	13835											
PRR23A	729627	genome.wustl.edu	37	chr3	138724344	138724344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtctgcgggccttgcacGgagggcgtttcgggagcggc	19	11	1	0	rs531909017		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:138724344G>A	ENST00000383163.2	-	1	766	c.767C>T	c.(766-768)cCg>cTg	p.P256L	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	256	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GGCCTTGCACGGAGGGCGTTT	0.647																																																	0								ENSG00000206260						18	18	18					3																	138724344		692	1591	2283	PRR23A	SO:0001583	missense	0			-	HGNC		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.767C>T	3.37:g.138724344G>A	ENSP00000372649:p.Pro256Leu	Somatic	0	73	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	67	21.18		Missense_Mutation	SNP							pfam_UPF0572	p.P256L	ENST00000383163.2	37	c.767	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357779	0.24598	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	-1.08	0.09936	.	1.353140	0.05163	N	0.498130	T	0.15998	0.0385	L	0.35854	1.095	0.09310	N	1	P	0.39920	0.695	B	0.26310	0.068	T	0.16364	-1.0405	9	0.28530	T	0.3	.	1.5445	0.02562	0.1165:0.183:0.327:0.3735	.	256	A6NEV1	PR23A_HUMAN	L	256	.	ENSP00000372649:P256L	P	-	2	0	PRR23A	140207034	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.452000	0.06787	-0.231000	0.09825	0.591000	0.81541	CCG	-	pfam_UPF0572		0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	protein_coding	OTTHUMT00000361503.1	G	NM_001134659	-		138724344	-1	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	SNP	0.000	A	A	138724344	G	A	138724344	3	1	196	1	0	0	0	0	1	0	0	0	12599	1116	39	1	37	1	PRR23A	3	138724344	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	504761	138724344	59298086	564	13836											
COPB2	9276	genome.wustl.edu	37	chr3	139079946	139079946	+	Frame_Shift_Del	DEL	G	G	-													ccctgtaaaaagtagctcatGaatgccacattatttttgcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:139079946delG	ENST00000333188.5	-	17	2368	c.2187delC	c.(2185-2187)ttcfs	p.F729fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.F700fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	729					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AGTAGCTCATGAATGCCACAT	0.428																																																	0								ENSG00000184432						167	160	162					3																	139079946		2203	4300	6503	COPB2	SO:0001589	frameshift_variant	0				HGNC	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2187delC	3.37:g.139079946delG	ENSP00000329419:p.Phe729fs	Somatic	0	39	0		0.52429534266604	215	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	B4DZI8	Frame_Shift_Del	DEL							pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F729fs	ENST00000333188.5	37	c.2187	CCDS3108.1	3																																																																																			-	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg		0.428	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	protein_coding	OTTHUMT00000358495.2	G	NM_004766			139079946	-1	no_errors	ENST00000333188	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	139079946	G	-	139079946	7	5	196	1	0	1	0	1	0	0	0	0	3731	1281	45	0	557	0	COPB2	3	139079946	Frame_Shift_Del	DEL	G	TCGA-QC-A7B5-01A-11D-A33E-09	355602	139079946	58942484	565	13837											
CLSTN2	64084	genome.wustl.edu	37	chr3	140178487	140178487	+	Silent	SNP	C	C	T													ggcaggcagggtgccaaagtCcccgatgggattgtgcccaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140178487C>T	ENST00000458420.3	+	7	1288	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	366			V -> I (in dbSNP:rs7632885). {ECO:0000269|PubMed:12498782, ECO:0000269|PubMed:12972431, ECO:0000269|Ref.5}.		homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0								ENSG00000158258						82	69	74					3																	140178487		2203	4300	6503	CLSTN2	SO:0001819	synonymous_variant	0			-	HGNC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1098C>T	3.37:g.140178487C>T		Somatic	0	70	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP							pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V366	ENST00000458420.3	37	c.1098	CCDS3112.1	3																																																																																			-	superfamily_ConA-like_lec_gl_sf		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	protein_coding	OTTHUMT00000359393.3	C	NM_022131	-		140178487	1	no_errors	ENST00000458420	ensembl	human	known	74_37	silent	SNP	0.973	T	T	140178487	C	T	140178487	2	4	196	1	0	0	0	0	0	0	0	1	3564	842	30	2		2	CLSTN2	3	140178487	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1098541	140178487	57843943	566	13838	251	2									
CLSTN2	64084	genome.wustl.edu	37	chr3	140178488	140178488	+	Missense_Mutation	SNP	C	C	T													gcaggcagggtgccaaagtcCccgatgggattgtgcccaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140178488C>T	ENST00000458420.3	+	7	1289	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	367					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCAAAGTCCCCGATGGGAT	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0								ENSG00000158258						82	70	74					3																	140178488		2203	4300	6503	CLSTN2	SO:0001583	missense	0			-	HGNC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1099C>T	3.37:g.140178488C>T	ENSP00000402460:p.Pro367Ser	Somatic	0	71	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP							pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P367S	ENST00000458420.3	37	c.1099	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541285	0.85917	.	.	ENSG00000158258	ENST00000458420	T	0.77098	-1.07	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90211	0.4264	10	0.59425	D	0.04	-0.0453	16.6778	0.85284	0.0:1.0:0.0:0.0	.	367	Q9H4D0	CSTN2_HUMAN	S	367	ENSP00000402460:P367S	ENSP00000402460:P367S	P	+	1	0	CLSTN2	141661178	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	7.818000	0.86416	2.547000	0.85894	0.650000	0.86243	CCC	-	superfamily_ConA-like_lec_gl_sf		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	protein_coding	OTTHUMT00000359393.3	C	NM_022131	-		140178488	1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140178488	C	T	140178488	3	4	196	1	0	0	0	0	1	0	0	0	3564	623	22	2	1125	2	CLSTN2	3	140178488	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	140178488	57843942	567	13839	251	2									
TRIM42	287015	genome.wustl.edu	37	chr3	140401662	140401662	+	Missense_Mutation	SNP	G	G	A													ggcgctttgaccgctcctccGggcccatcctctgccaggtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140401662G>A	ENST00000286349.3	+	2	891	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	234						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G234R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTCCTCCGGGCCCATCCT	0.617																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000155890						73	72	72					3																	140401662		2203	4300	6503	TRIM42	SO:0001583	missense	0			-	HGNC	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.700G>A	3.37:g.140401662G>A	ENSP00000286349:p.Gly234Arg	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	87	28.69	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP							pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.G234R	ENST00000286349.3	37	c.700	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	6.073	0.381788	0.11524	.	.	ENSG00000155890	ENST00000286349	T	0.39056	1.1	5.2	4.12	0.48240	.	0.206985	0.34178	N	0.004196	T	0.24005	0.0581	L	0.27053	0.805	0.26770	N	0.969816	B	0.25719	0.132	B	0.17722	0.019	T	0.12760	-1.0535	10	0.08599	T	0.76	-33.3162	9.5496	0.39301	0.1127:0.0:0.8873:0.0	.	234	Q8IWZ5	TRI42_HUMAN	R	234	ENSP00000286349:G234R	ENSP00000286349:G234R	G	+	1	0	TRIM42	141884352	0.962000	0.33011	0.937000	0.37676	0.942000	0.58702	1.961000	0.40432	2.435000	0.82474	0.561000	0.74099	GGG	-	smart_Znf_B-box		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	protein_coding	OTTHUMT00000359531.2	G	NM_152616	-		140401662	1	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	SNP	0.488	A	A	140401662	G	A	140401662	3	1	196	1	0	0	0	0	1	0	0	0	16524	1116	39	1	706	1	TRIM42	3	140401662	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	223174	140401662	57620768	568	13840	252	2									
TRIM42	287015	genome.wustl.edu	37	chr3	140401663	140401663	+	Missense_Mutation	SNP	G	G	A													gcgctttgaccgctcctccgGgcccatcctctgccaggtct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140401663G>A	ENST00000286349.3	+	2	892	c.701G>A	c.(700-702)gGg>gAg	p.G234E		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	234						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTCCTCCGGGCCCATCCTC	0.617																																																	0								ENSG00000155890						72	72	72					3																	140401663		2203	4300	6503	TRIM42	SO:0001583	missense	0			-	HGNC	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.701G>A	3.37:g.140401663G>A	ENSP00000286349:p.Gly234Glu	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	87	28.69	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP							pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.G234E	ENST00000286349.3	37	c.701	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096940	0.07010	.	.	ENSG00000155890	ENST00000286349	T	0.37915	1.17	5.2	4.31	0.51392	.	0.206985	0.34178	N	0.004196	T	0.21427	0.0516	L	0.38175	1.15	0.28597	N	0.909339	P	0.39216	0.664	B	0.30401	0.115	T	0.10042	-1.0647	10	0.13853	T	0.58	-33.3162	10.0525	0.42225	0.0961:0.0:0.9039:0.0	.	234	Q8IWZ5	TRI42_HUMAN	E	234	ENSP00000286349:G234E	ENSP00000286349:G234E	G	+	2	0	TRIM42	141884353	0.980000	0.34600	0.986000	0.45419	0.960000	0.62799	1.210000	0.32370	2.435000	0.82474	0.561000	0.74099	GGG	-	smart_Znf_B-box		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	protein_coding	OTTHUMT00000359531.2	G	NM_152616	-		140401663	1	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	SNP	0.623	A	A	140401663	G	A	140401663	3	1	196	1	0	0	0	0	1	0	0	0	16524	1232	43	2	707	2	TRIM42	3	140401663	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	140401663	57620767	569	13841	252	2									
SPSB4	92369	genome.wustl.edu	37	chr3	140866004	140866004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagcccctgccactgatgGacctgtgccggagatccatc	11	16	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140866004G>A	ENST00000310546.2	+	3	1459	c.715G>A	c.(715-717)Gac>Aac	p.D239N	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	239	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCACTGATGGACCTGTGCCG	0.627																																																	0								ENSG00000175093						54	54	54					3																	140866004		2203	4300	6503	SPSB4	SO:0001583	missense	0			-	HGNC		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.715G>A	3.37:g.140866004G>A	ENSP00000311609:p.Asp239Asn	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	64	27.27		Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.D239N	ENST00000310546.2	37	c.715	CCDS3115.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714330	0.89112	.	.	ENSG00000175093	ENST00000310546	T	0.43294	0.95	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.76002	2.32	0.58432	D	0.999999	P	0.52316	0.952	P	0.51453	0.67	T	0.52193	-0.8608	10	0.29301	T	0.29	-49.355	17.2564	0.87057	0.0:0.0:1.0:0.0	.	239	Q96A44	SPSB4_HUMAN	N	239	ENSP00000311609:D239N	ENSP00000311609:D239N	D	+	1	0	SPSB4	142348694	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.363000	0.97131	2.676000	0.91093	0.561000	0.74099	GAC	-	pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SOCS_C,pfscan_SOCS_C		0.627	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB4	protein_coding	OTTHUMT00000359727.1	G	NM_080862	-		140866004	1	no_errors	ENST00000310546	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140866004	G	A	140866004	3	1	196	1	0	0	0	0	1	0	0	0	15122	1174	41	2	721	2	SPSB4	3	140866004	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	464341	140866004	57156426	570	13842											
ACPL2	92370	genome.wustl.edu	37	chr3	141011754	141011754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgatgtcactctgtcaCcagttctcagtgccttgggc	9	13	5	1	rs114644481		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:141011754C>T	ENST00000286353.4	+	6	1287	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.P346S|ACPL2_ENST00000508812.1_Missense_Mutation_p.P375S|ACPL2_ENST00000393007.1_Missense_Mutation_p.P368S|ACPL2_ENST00000504264.1_Missense_Mutation_p.P367S|ACPL2_ENST00000393010.2_Missense_Mutation_p.P384S	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		384						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CACTCTGTCACCAGTTCTCAG	0.542																																																	0								ENSG00000155893						180	146	158					3																	141011754		2203	4300	6503	ACPL2	SO:0001583	missense	0			-	HGNC																												ENST00000286353.4:c.1150C>T	3.37:g.141011754C>T	ENSP00000286353:p.Pro384Ser	Somatic	0	44	0		0.52429534266604	3	70	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP							pfam_His_Pase_superF_clade-2	p.P384S	ENST00000286353.4	37	c.1150	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768113	0.69878	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47911	-0.9080	10	0.24483	T	0.36	.	16.8613	0.86019	0.0:1.0:0.0:0.0	.	367;384	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	S	384;346;384;367;375;368;192	ENSP00000286353:P384S;ENSP00000422558:P346S;ENSP00000376733:P384S;ENSP00000426877:P367S;ENSP00000422901:P375S;ENSP00000376731:P368S	ENSP00000286353:P384S	P	+	1	0	ACPL2	142494444	1.000000	0.71417	0.157000	0.22605	0.995000	0.86356	7.464000	0.80887	2.570000	0.86706	0.655000	0.94253	CCA	-	pfam_His_Pase_superF_clade-2		0.542	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	protein_coding	OTTHUMT00000359533.2	C		-		141011754	1	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	SNP	0.997	T	T	141011754	C	T	141011754	3	4	196	1	0	0	0	0	1	0	0	0	166	507	18	2	1168	2	ACPL2	3	141011754	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	145750	141011754	57010676	571	13843											
HPS3	84343	genome.wustl.edu	37	chr3	148871405	148871405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaacctgaagccattcCagagagaagacagtcaccca	9	12	1	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:148871405C>T	ENST00000296051.2	+	7	1510	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	HPS3_ENST00000460120.1_Missense_Mutation_p.P292L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	457					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAAGCCATTCCAGAGAGAAGA	0.428									Hermansky-Pudlak syndrome																																								0								ENSG00000163755						95	99	97					3																	148871405		2203	4300	6503	HPS3	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	-	HGNC	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1370C>T	3.37:g.148871405C>T	ENSP00000296051:p.Pro457Leu	Somatic	0	41	0		0.52429534266604	5	54.55	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP							pirsf_HPS3	p.P457L	ENST00000296051.2	37	c.1370	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889020	0.52014	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.62788	0.0;0.0	5.7	4.81	0.61882	.	0.559637	0.18775	N	0.131497	T	0.61664	0.2365	L	0.57536	1.79	0.45318	D	0.998311	P;P	0.45126	0.851;0.666	B;B	0.40825	0.341;0.149	T	0.66464	-0.5917	10	0.66056	D	0.02	-1.7721	15.9051	0.79423	0.1364:0.8636:0.0:0.0	.	292;457	G5E9V4;Q969F9	.;HPS3_HUMAN	L	457;292	ENSP00000296051:P457L;ENSP00000418230:P292L	ENSP00000296051:P457L	P	+	2	0	HPS3	150354095	0.996000	0.38824	0.661000	0.29709	0.946000	0.59487	2.967000	0.49216	1.351000	0.45789	0.655000	0.94253	CCA	-	pirsf_HPS3		0.428	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	protein_coding	OTTHUMT00000356151.1	C	NM_032383	-		148871405	1	no_errors	ENST00000296051	ensembl	human	known	74_37	missense	SNP	0.914	T	T	148871405	C	T	148871405	3	4	196	1	0	0	0	0	1	0	0	0	7342	594	21	2	1396	2	HPS3	3	148871405	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7859651	148871405	49151025	572	13844											
TM4SF1	4071	genome.wustl.edu	37	chr3	149089530	149089530	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcactccatttattacttGaataagacacaagatgaatt	5	7	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:149089530G>A	ENST00000305366.3	-	4	855	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	TM4SF1_ENST00000472441.1_Nonsense_Mutation_p.Q91*	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	180						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTTATTACTTGAATAAGACAC	0.438																																																	0								ENSG00000169908						134	126	129					3																	149089530		2203	4300	6503	TM4SF1	SO:0001587	stop_gained	0			-	HGNC	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"transmembrane 4 superfamily member 1"	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.538C>T	3.37:g.149089530G>A	ENSP00000304277:p.Gln180*	Somatic	0	65	0		0.52429534266604	204	3.77	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	55	27.63	Q6IB51	Nonsense_Mutation	SNP							pfam_L6_membrane	p.Q180*	ENST00000305366.3	37	c.538	CCDS3143.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.675214	0.97755	.	.	ENSG00000169908	ENST00000305366;ENST00000472441;ENST00000383054	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0621	20.3213	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	180;91;180	.	ENSP00000304277:Q180X	Q	-	1	0	TM4SF1	150572220	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.700000	0.84556	2.810000	0.96702	0.650000	0.86243	CAA	-	pfam_L6_membrane		0.438	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	protein_coding	OTTHUMT00000356368.1	G		-		149089530	-1	no_errors	ENST00000305366	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	149089530	G	A	149089530	4	1	196	1	0	0	0	0	0	1	0	0	15973	1299	45	2	78	2	TM4SF1	3	149089530	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	218125	149089530	48932900	573	13845											
IGSF10	285313	genome.wustl.edu	37	chr3	151161405	151161405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgcaagaatccaggtaActgtagggcttggcctacct	12	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:151161405A>G	ENST00000282466.3	-	5	5329	c.5330T>C	c.(5329-5331)gTt>gCt	p.V1777A	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1777	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATCCAGGTAACTGTAGGGCT	0.517																																																	0								ENSG00000152580						135	119	124					3																	151161405		2203	4300	6503	IGSF10	SO:0001583	missense	0			-	HGNC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5330T>C	3.37:g.151161405A>G	ENSP00000282466:p.Val1777Ala	Somatic	0	71	0		0.52429534266604	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	74	32.11	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.V1777A	ENST00000282466.3	37	c.5330	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331093	0.41297	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.76578	-1.03	5.15	3.91	0.45181	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.849906	0.09980	N	0.731153	T	0.80974	0.4727	M	0.80847	2.515	0.09310	N	0.999998	B	0.22480	0.07	B	0.34038	0.174	T	0.70554	-0.4840	9	.	.	.	.	11.6471	0.51267	0.8516:0.1484:0.0:0.0	.	1777	Q6WRI0	IGS10_HUMAN	A	1777;404	ENSP00000282466:V1777A	.	V	-	2	0	IGSF10	152644095	1.000000	0.71417	0.122000	0.21767	0.811000	0.45836	7.328000	0.79160	1.944000	0.56390	0.477000	0.44152	GTT	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.517	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	protein_coding	OTTHUMT00000357782.1	A	NM_178822	-		151161405	-1	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	SNP	0.249	G	G	151161405	A	G	151161405	3	3	196	1	0	0	0	0	1	0	0	0	7599	43	2	5	2597	5	IGSF10	3	151161405	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2071875	151161405	46861025	574	13846											
IGSF10	285313	genome.wustl.edu	37	chr3	151163068	151163069	+	Frame_Shift_Ins	INS	-	-	G													ggttttctgcccagggagatINSggagttaatttagaattctg					rs112622384		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:151163068_151163069insG	ENST00000282466.3	-	4	4699_4700	c.4700_4701insC	c.(4699-4701)ccafs	p.P1567fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1567					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGGGAGATGGAGTTAATTT	0.401																																																	0								ENSG00000152580																																			IGSF10	SO:0001589	frameshift_variant	0				HGNC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4701dupC	3.37:g.151163070_151163070dupG	ENSP00000282466:p.Pro1567fs	Somatic	0	57	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S1568fs	ENST00000282466.3	37	c.4701_4700	CCDS3160.1	3																																																																																			-	NULL		0.401	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	protein_coding	OTTHUMT00000357782.1	-	NM_178822			151163069	-1	no_errors	ENST00000282466	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.003	G	G	151163069	-	G	151163068	7	5	196	1	0	1	1	0	0	0	0	0	7599	1451	51	0	3230	0	IGSF10	3	151163068	Frame_Shift_Ins	INS	-	TCGA-QC-A7B5-01A-11D-A33E-09	1663	151163068	46859362	575	13847											
MBNL1	4154	genome.wustl.edu	37	chr3	152018007	152018007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttagtgtcacaccaattCgggacacaaaatggctaaca	8	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:152018007C>T	ENST00000463374.1	+	1	536	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	MBNL1_ENST00000324196.5_Missense_Mutation_p.R9W|MBNL1_ENST00000324210.5_Missense_Mutation_p.R9W|MBNL1_ENST00000357472.3_Missense_Mutation_p.R9W|MBNL1_ENST00000485509.1_Missense_Mutation_p.R9W|MBNL1_ENST00000545754.1_Missense_Mutation_p.R9W|MBNL1_ENST00000492948.1_Missense_Mutation_p.R9W|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.R9W|MBNL1_ENST00000355460.2_Missense_Mutation_p.R9W|MBNL1_ENST00000282488.7_Missense_Mutation_p.R9W|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000498502.1_Missense_Mutation_p.R9W|MBNL1_ENST00000485910.1_Missense_Mutation_p.R9W	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	9					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R9W(6)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACACCAATTCGGGACACAAA	0.438																																																	6	Substitution - Missense(6)	urinary_tract(3)|endometrium(3)						ENSG00000152601						86	79	82					3																	152018007		2203	4300	6503	MBNL1	SO:0001583	missense	0			-	HGNC	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.25C>T	3.37:g.152018007C>T	ENSP00000418108:p.Arg9Trp	Somatic	0	105	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	92	34.75	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP							smart_Znf_CCCH	p.R9W	ENST00000463374.1	37	c.25	CCDS3165.1	3	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172794	0.38413	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.87269	2.87	0.80722	D	1	D;B;B;B;D;D;D	0.89917	1.0;0.006;0.014;0.094;1.0;1.0;1.0	D;B;B;B;D;D;D	0.97110	0.997;0.001;0.002;0.111;1.0;1.0;1.0	D	0.85683	0.1302	10	0.87932	D	0	.	19.297	0.94126	0.0:1.0:0.0:0.0	.	9;9;9;9;9;9;9	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92	.;.;.;MBNL1_HUMAN;.;.;.	W	9	ENSP00000282486:R9W;ENSP00000282488:R9W;ENSP00000347637:R9W;ENSP00000319429:R9W;ENSP00000420327:R9W;ENSP00000319374:R9W;ENSP00000437491:R9W;ENSP00000350064:R9W;ENSP00000418427:R9W;ENSP00000418108:R9W;ENSP00000417630:R9W;ENSP00000420103:R9W;ENSP00000418876:R9W	ENSP00000282486:R9W	R	+	1	2	MBNL1	153500697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.716000	0.61916	2.561000	0.86390	0.586000	0.80456	CGG	-	NULL		0.438	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	protein_coding	OTTHUMT00000353604.1	C	NM_021038	-		152018007	1	no_errors	ENST00000282486	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152018007	C	T	152018007	3	4	196	1	0	0	0	0	1	0	0	0	9355	875	31	1	27	1	MBNL1	3	152018007	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	854939	152018007	46004423	576	13848											
VEPH1	79674	genome.wustl.edu	37	chr3	157031465	157031465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaagctgtgagcacccCctgcctgggtcttctcccac	8	16	3	1	rs201853660		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:157031465C>T	ENST00000362010.2	-	11	2262	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.G652E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	652						plasma membrane (GO:0005886)		p.G652E(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGAGCACCCCCTGCCTGGGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000197415						73	75	74					3																	157031465		2203	4300	6503	VEPH1	SO:0001583	missense	0			-	HGNC	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1955G>A	3.37:g.157031465C>T	ENSP00000354919:p.Gly652Glu	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	53	36.90	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G652E	ENST00000362010.2	37	c.1955	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	0.099	-1.155233	0.01700	.	.	ENSG00000197415	ENST00000362010;ENST00000392832	T;T	0.06294	3.32;3.32	5.01	-1.53	0.08611	.	0.368712	0.28653	N	0.014587	T	0.01558	0.0050	N	0.01874	-0.695	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	10	0.02654	T	1	-0.1681	5.7749	0.18273	0.0:0.4074:0.1521:0.4405	.	652	Q14D04	MELT_HUMAN	E	652	ENSP00000354919:G652E;ENSP00000376577:G652E	ENSP00000354919:G652E	G	-	2	0	VEPH1	158514159	0.749000	0.28305	0.000000	0.03702	0.584000	0.36387	1.185000	0.32065	-0.438000	0.07232	0.484000	0.47621	GGG	-	NULL		0.488	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	protein_coding	OTTHUMT00000351845.3	C	NM_024621	-		157031465	-1	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	SNP	0.002	T	T	157031465	C	T	157031465	3	4	196	1	0	0	0	0	1	0	0	0	17161	623	22	2	562	2	VEPH1	3	157031465	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5013458	157031465	40990965	577	13849											
SMC4	10051	genome.wustl.edu	37	chr3	160135545	160135545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttatgggtttcagcaaatCggtaaatgaagcacgttcaa	9	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160135545C>T	ENST00000357388.3	+	11	1923	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	SMC4_ENST00000360111.2_Missense_Mutation_p.S491L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.S491L|SMC4_ENST00000469762.1_Missense_Mutation_p.S466L|SMC4_ENST00000462787.1_Missense_Mutation_p.S491L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	491					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCAGCAAATCGGTAAATGAA	0.363																																																	0								ENSG00000113810						88	86	87					3																	160135545		2203	4299	6502	SMC4	SO:0001583	missense	0			-	HGNC	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1472C>T	3.37:g.160135545C>T	ENSP00000349961:p.Ser491Leu	Somatic	0	78	0		0.52429534266604	3	75	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	88	30.16	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP							pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.S491L	ENST00000357388.3	37	c.1472	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545788	0.45280	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.93	2.01	0.26516	RecF/RecN/SMC (1);	0.270254	0.42172	N	0.000743	T	0.64649	0.2617	L	0.39898	1.24	0.30935	N	0.726497	B;B;B;B	0.25441	0.008;0.042;0.004;0.126	B;B;B;B	0.20184	0.004;0.028;0.003;0.021	T	0.59658	-0.7413	10	0.51188	T	0.08	-0.3308	6.414	0.21705	0.1149:0.6139:0.0:0.2712	.	491;466;466;491	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	L	491;491;466;491;491;85	ENSP00000349961:S491L;ENSP00000353225:S491L;ENSP00000417964:S466L;ENSP00000420734:S491L;ENSP00000341382:S491L	ENSP00000341382:S491L	S	+	2	0	SMC4	161618239	0.183000	0.23186	0.155000	0.22561	0.948000	0.59901	0.781000	0.26774	0.078000	0.16900	-0.136000	0.14681	TCG	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	protein_coding	OTTHUMT00000352862.1	C		-		160135545	1	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	SNP	0.726	T	T	160135545	C	T	160135545	3	4	196	1	0	0	0	0	1	0	0	0	14793	893	31	1	1510	1	SMC4	3	160135545	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3104080	160135545	37886885	578	13850											
SMC4	10051	genome.wustl.edu	37	chr3	160135717	160135717	+	Silent	SNP	C	C	T													agagatatagaaggaaaactCcctcaaactgaacaagaatt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160135717C>T	ENST00000357388.3	+	11	2095	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	SMC4_ENST00000360111.2_Silent_p.L548L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.L548L|SMC4_ENST00000469762.1_Silent_p.L523L|SMC4_ENST00000462787.1_Silent_p.L548L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	548					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGGAAAACTCCCTCAAACTG	0.373																																																	0								ENSG00000113810						46	47	47					3																	160135717		2203	4298	6501	SMC4	SO:0001819	synonymous_variant	0			-	HGNC	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1644C>T	3.37:g.160135717C>T		Somatic	0	56	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP							pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.L548	ENST00000357388.3	37	c.1644	CCDS3189.1	3																																																																																			-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.373	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	protein_coding	OTTHUMT00000352862.1	C		-		160135717	1	no_errors	ENST00000344722	ensembl	human	known	74_37	silent	SNP	1.000	T	T	160135717	C	T	160135717	2	4	196	1	0	0	0	0	0	0	0	1	14793	842	30	2		2	SMC4	3	160135717	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	172	160135717	37886713	579	13851	253	2									
SMC4	10051	genome.wustl.edu	37	chr3	160135718	160135718	+	Missense_Mutation	SNP	C	C	T													gagatatagaaggaaaactcCctcaaactgaacaagaatta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160135718C>T	ENST00000357388.3	+	11	2096	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	SMC4_ENST00000360111.2_Missense_Mutation_p.P549S|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.P549S|SMC4_ENST00000469762.1_Missense_Mutation_p.P524S|SMC4_ENST00000462787.1_Missense_Mutation_p.P549S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	549					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGGAAAACTCCCTCAAACTGA	0.368																																																	0								ENSG00000113810						46	47	46					3																	160135718		2203	4298	6501	SMC4	SO:0001583	missense	0			-	HGNC	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1645C>T	3.37:g.160135718C>T	ENSP00000349961:p.Pro549Ser	Somatic	0	56	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	39	35.00	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP							pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.P549S	ENST00000357388.3	37	c.1645	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874014	0.91664	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.73	5.73	0.89815	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	L	0.39633	1.23	0.80722	D	1	D;B;D;D	0.89917	0.991;0.115;1.0;0.993	P;B;D;P	0.91635	0.833;0.173;0.999;0.863	T	0.77935	-0.2401	10	0.17369	T	0.5	-18.6751	19.9155	0.97058	0.0:1.0:0.0:0.0	.	549;524;524;549	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	S	549;549;524;549;549;143	ENSP00000349961:P549S;ENSP00000353225:P549S;ENSP00000417964:P524S;ENSP00000420734:P549S;ENSP00000341382:P549S	ENSP00000341382:P549S	P	+	1	0	SMC4	161618412	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.273000	0.78527	2.699000	0.92147	0.650000	0.86243	CCT	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.368	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	protein_coding	OTTHUMT00000352862.1	C		-		160135718	1	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160135718	C	T	160135718	3	4	196	1	0	0	0	0	1	0	0	0	14793	623	22	2	1683	2	SMC4	3	160135718	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	160135718	37886712	580	13852	253	2									
B3GALNT1	8706	genome.wustl.edu	37	chr3	160803877	160803877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcctggtaagaaatatgGgttttttggtaaaatcctct	8	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160803877G>A	ENST00000392781.2	-	8	1413	c.666C>T	c.(664-666)acC>acT	p.T222T	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.T222T|B3GALNT1_ENST00000392779.2_Silent_p.T222T|B3GALNT1_ENST00000392780.1_Silent_p.T222T|B3GALNT1_ENST00000320474.4_Silent_p.T222T|B3GALNT1_ENST00000473285.1_Silent_p.T222T	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	222					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAGAAATATGGGTTTTTTGGT	0.358																																																	0								ENSG00000169255						36	37	37					3																	160803877		2201	4295	6496	B3GALNT1	SO:0001819	synonymous_variant	0			-	HGNC	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.666C>T	3.37:g.160803877G>A		Somatic	0	88	0		0.52429534266604	7	61.11	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	86	22.52	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP							pfam_Glyco_trans_31,pfam_Fringe-like	p.T222	ENST00000392781.2	37	c.666	CCDS3193.1	3																																																																																			-	pfam_Glyco_trans_31,pfam_Fringe-like		0.358	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	protein_coding	OTTHUMT00000353125.1	G	NM_033167	-		160803877	-1	no_errors	ENST00000320474	ensembl	human	known	74_37	silent	SNP	0.220	A	A	160803877	G	A	160803877	2	1	196	1	0	0	0	0	0	0	0	1	1245	1219	43	2		2	B3GALNT1	3	160803877	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	668159	160803877	37218553	581	13853											
SI	6476	genome.wustl.edu	37	chr3	164741542	164741542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggaaagtaacactcaGgtgctttggatagagaagaa	13	5	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:164741542G>A	ENST00000264382.3	-	26	2977	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	972	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	GTAACACTCAGGTGCTTTGGA	0.358										HNSCC(35;0.089)																																							0								ENSG00000090402						87	84	85					3																	164741542		2203	4300	6503	SI	SO:0001583	missense	0			-	HGNC	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.2915C>T	3.37:g.164741542G>A	ENSP00000264382:p.Pro972Leu	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	67	23.86	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P972L	ENST00000264382.3	37	c.2915	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474686	0.63737	.	.	ENSG00000090402	ENST00000264382	T	0.62364	0.03	5.23	5.23	0.72850	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.266659	0.39146	N	0.001444	D	0.83737	0.5319	M	0.93638	3.44	0.36864	D	0.888556	D	0.89917	1.0	D	0.97110	1.0	D	0.89184	0.3546	10	0.87932	D	0	.	14.6943	0.69110	0.0:0.0:0.8544:0.1456	.	972	P14410	SUIS_HUMAN	L	972	ENSP00000264382:P972L	ENSP00000264382:P972L	P	-	2	0	SI	166224236	1.000000	0.71417	0.111000	0.21465	0.036000	0.12997	4.135000	0.57997	2.882000	0.98803	0.655000	0.94253	CCT	-	pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	G	NM_001041	-		164741542	-1	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	SNP	0.276	A	A	164741542	G	A	164741542	3	1	196	1	0	0	0	0	1	0	0	0	14305	1000	35	2	2660	2	SI	3	164741542	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3937665	164741542	33280888	582	13854											
SI	6476	genome.wustl.edu	37	chr3	164760860	164760860	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttacttcatatccgtcaGaattatggtttctggaaaat	6	8	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:164760860G>A	ENST00000264382.3	-	17	2053	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	664	Isomaltase.				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)	ATATCCGTCAGAATTATGGTT	0.358										HNSCC(35;0.089)																																							0								ENSG00000090402						87	88	88					3																	164760860		2203	4300	6503	SI	SO:0001583	missense	0			-	HGNC	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.1991C>T	3.37:g.164760860G>A	ENSP00000264382:p.Ser664Phe	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	127	11.81	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S664F	ENST00000264382.3	37	c.1991	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674719	0.29693	.	.	ENSG00000090402	ENST00000264382	D	0.91894	-2.93	5.87	0.559	0.17272	Glycoside hydrolase, superfamily (1);	0.106949	0.64402	D	0.000006	D	0.93158	0.7821	M	0.66439	2.03	0.20975	N	0.999811	P	0.48350	0.909	P	0.49528	0.614	D	0.88993	0.3416	10	0.87932	D	0	.	20.4714	0.99163	0.0:0.6642:0.3358:0.0	.	664	P14410	SUIS_HUMAN	F	664	ENSP00000264382:S664F	ENSP00000264382:S664F	S	-	2	0	SI	166243554	0.835000	0.29415	0.393000	0.26258	0.021000	0.10359	1.810000	0.38932	0.149000	0.19098	-0.165000	0.13383	TCT	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	G	NM_001041	-		164760860	-1	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	SNP	0.839	A	A	164760860	G	A	164760860	3	1	196	1	0	0	0	0	1	0	0	0	14305	942	33	2	3620	2	SI	3	164760860	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	19318	164760860	33261570	583	13855											
ZBBX	79740	genome.wustl.edu	37	chr3	167068246	167068246	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggagctttagtgccccttTctggtgaactttagcaaagc	11	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:167068246T>A	ENST00000392766.2	-	9	830	c.490A>T	c.(490-492)Aaa>Taa	p.K164*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.K164*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.K164*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.K164*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.K135*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	164						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGTGCCCCTTTCTGGTGAACT	0.308																																																	0								ENSG00000169064						179	175	177					3																	167068246		1815	4077	5892	ZBBX	SO:0001587	stop_gained	0			-	HGNC	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.490A>T	3.37:g.167068246T>A	ENSP00000376519:p.Lys164*	Somatic	0	97	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	90	34.78	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP							pfam_Znf_B-box	p.K164*	ENST00000392766.2	37	c.490	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	T	34	5.378227	0.95945	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.54	5.54	0.83059	.	0.000000	0.33457	U	0.004886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1529	13.6397	0.62243	0.0:0.0:0.0:1.0	.	.	.	.	X	164;164;164;164;135	.	ENSP00000305065:K164X	K	-	1	0	ZBBX	168550940	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.233000	0.65337	2.101000	0.63845	0.377000	0.23210	AAA	-	pfam_Znf_B-box		0.308	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	protein_coding	OTTHUMT00000257657.3	T	NM_024687	-		167068246	-1	no_errors	ENST00000307529	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	167068246	T	A	167068246	4	1	196	1	0	0	0	0	0	1	0	0	17523	1792	62	5	1964	5	ZBBX	3	167068246	Nonsense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2307386	167068246	30954184	584	13856											
WDR49	151790	genome.wustl.edu	37	chr3	167277889	167277889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccagtcaaaagccgaGtctcatttgcatcaagggcc	10	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:167277889G>A	ENST00000308378.3	-	5	919	c.614C>T	c.(613-615)aCt>aTt	p.T205I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.T258I|WDR49_ENST00000476376.1_Missense_Mutation_p.T30I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	205										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAAAAGCCGAGTCTCATTTGC	0.453																																																	0								ENSG00000174776						187	171	177					3																	167277889		2203	4300	6503	WDR49	SO:0001583	missense	0			-	HGNC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.614C>T	3.37:g.167277889G>A	ENSP00000311343:p.Thr205Ile	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	67	33.66	Q8N297	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T205I	ENST00000308378.3	37	c.614	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.846|6.846	0.525389|0.525389	0.13066|0.13066	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	.|T;T;T;T	.|0.60797	.|0.16;0.16;0.16;0.16	4.94|4.94	1.87|1.87	0.25490|0.25490	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.175238	.|0.51477	.|D	.|0.000095	T|T	0.42245|0.42245	0.1194|0.1194	L|L	0.33245|0.33245	0.995|0.995	0.28119|0.28119	N|N	0.930671|0.930671	.|P;P	.|0.43024	.|0.798;0.634	.|B;B	.|0.42030	.|0.373;0.31	T|T	0.29119|0.29119	-1.0022|-1.0022	5|10	.|0.39692	.|T	.|0.17	.|.	6.0852|6.0852	0.19962|0.19962	0.079:0.1333:0.6504:0.1373|0.079:0.1333:0.6504:0.1373	.|.	.|258;205	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	F|I	270|205;30;258;98	.|ENSP00000311343:T205I;ENSP00000420508:T30I;ENSP00000410863:T258I;ENSP00000418718:T98I	.|ENSP00000311343:T205I	L|T	-|-	1|2	0|0	WDR49|WDR49	168760583|168760583	0.999000|0.999000	0.42202|0.42202	0.777000|0.777000	0.31699|0.31699	0.507000|0.507000	0.33981|0.33981	2.978000|2.978000	0.49305|0.49305	0.569000|0.569000	0.29329|0.29329	-0.229000|-0.229000	0.12294|0.12294	CTC|ACT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	protein_coding	OTTHUMT00000350592.3	G	NM_178824	-		167277889	-1	no_errors	ENST00000308378	ensembl	human	known	74_37	missense	SNP	0.717	A	A	167277889	G	A	167277889	3	1	196	1	0	0	0	0	1	0	0	0	17309	1029	36	2	1523	2	WDR49	3	167277889	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	209643	167277889	30744541	585	13857											
MECOM	2122	genome.wustl.edu	37	chr3	168849229	168849229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactaaccgtggatatccgGcgccatagtttcatggggat	12	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:168849229G>A	ENST00000464456.1	-	3	1237	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	MECOM_ENST00000392736.3_Missense_Mutation_p.P13S|MECOM_ENST00000494292.1_Missense_Mutation_p.P201S|MECOM_ENST00000472280.1_Missense_Mutation_p.P13S|MECOM_ENST00000264674.3_Missense_Mutation_p.P77S|MECOM_ENST00000460814.1_Missense_Mutation_p.P13S|MECOM_ENST00000433243.2_Missense_Mutation_p.P13S|MECOM_ENST00000468789.1_Missense_Mutation_p.P13S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGATATCCGGCGCCATAGTT	0.468																																																	0								ENSG00000085276						187	115	139					3																	168849229		2203	4300	6503	MECOM	SO:0001583	missense	0			-	HGNC	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.37C>T	3.37:g.168849229G>A	ENSP00000419770:p.Pro13Ser	Somatic	0	78	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	67	39.82	Q13466|Q6FH90	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P201S	ENST00000464456.1	37	c.601	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425928	0.43020	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315;ENST00000466623	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39406	3.1;3.11;3.12;3.28;3.1;3.11;3.12;3.28;5.02;5.92;5.92;5.92;1.08	5.55	5.55	0.83447	.	0.217736	0.32328	N	0.006259	T	0.54983	0.1892	L	0.27053	0.805	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;0.983;0.996;0.983;0.996	T	0.58532	-0.7620	10	0.72032	D	0.01	-7.9151	19.502	0.95098	0.0:0.0:1.0:0.0	.	201;13;201;77;13	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	77;13;13;13;201;13;13;13;13;13;13;13;13;13;13	ENSP00000264674:P77S;ENSP00000376493:P13S;ENSP00000419770:P13S;ENSP00000420048:P13S;ENSP00000417899:P201S;ENSP00000419995:P13S;ENSP00000420466:P13S;ENSP00000394302:P13S;ENSP00000417299:P13S;ENSP00000417922:P13S;ENSP00000419757:P13S;ENSP00000420072:P13S;ENSP00000418828:P13S	ENSP00000264674:P77S	P	-	1	0	MECOM	170331923	1.000000	0.71417	0.999000	0.59377	0.086000	0.17979	9.476000	0.97823	2.605000	0.88082	0.555000	0.69702	CCG	-	NULL		0.468	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	protein_coding	OTTHUMT00000351519.1	G	NM_005241, NM_004991	-		168849229	-1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	SNP	1.000	A	A	168849229	G	A	168849229	3	1	196	1	0	0	0	0	1	0	0	0	9424	1203	42	2	3177	2	MECOM	3	168849229	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1571340	168849229	29173201	586	13858											
LRRIQ4	344657	genome.wustl.edu	37	chr3	169540355	169540355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgacggggctgcagaagTtctatatggcttctaacaac	10	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:169540355T>C	ENST00000340806.6	+	1	646	c.646T>C	c.(646-648)Ttc>Ctc	p.F216L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	216										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCTGCAGAAGTTCTATATGGC	0.527																																																	0								ENSG00000188306						85	89	88					3																	169540355		1923	4128	6051	LRRIQ4	SO:0001583	missense	0			-	HGNC		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.646T>C	3.37:g.169540355T>C	ENSP00000342188:p.Phe216Leu	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43		Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.F216L	ENST00000340806.6	37	c.646	CCDS46951.1	3	.	.	.	.	.	.	.	.	.	.	T	2.068	-0.413675	0.04799	.	.	ENSG00000188306	ENST00000340806	T	0.02737	4.18	5.7	-0.872	0.10638	.	0.416288	0.25514	N	0.030157	T	0.00724	0.0024	N	0.00280	-1.71	0.37656	D	0.922585	B	0.09022	0.002	B	0.12156	0.007	T	0.52049	-0.8627	10	0.02654	T	1	.	12.0245	0.53362	0.0:0.4864:0.0:0.5136	.	216	A6NIV6	LRIQ4_HUMAN	L	216	ENSP00000342188:F216L	ENSP00000342188:F216L	F	+	1	0	LRRIQ4	171023049	0.986000	0.35501	0.562000	0.28370	0.043000	0.13939	0.572000	0.23684	-0.370000	0.08016	0.379000	0.24179	TTC	-	smart_Leu-rich_rpt_typical-subtyp		0.527	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	protein_coding	OTTHUMT00000378698.1	T	NM_001080460	-		169540355	1	no_errors	ENST00000340806	ensembl	human	known	74_37	missense	SNP	0.877	C	C	169540355	T	C	169540355	3	2	196	1	0	0	0	0	1	0	0	0	9033	1725	60	5	648	5	LRRIQ4	3	169540355	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	691126	169540355	28482075	587	13859											
SAMD7	344658	genome.wustl.edu	37	chr3	169644534	169644534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctcagaaaccttcagGgaaaccccatgctagcggca	9	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:169644534G>A	ENST00000428432.2	+	6	873	c.484G>A	c.(484-486)Gga>Aga	p.G162R	SAMD7_ENST00000335556.3_Missense_Mutation_p.G162R	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	162										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAACCTTCAGGGAAACCCCAT	0.562																																																	0								ENSG00000187033						63	66	65					3																	169644534		2203	4300	6503	SAMD7	SO:0001583	missense	0			-	HGNC	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.484G>A	3.37:g.169644534G>A	ENSP00000391299:p.Gly162Arg	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.00		Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G162R	ENST00000428432.2	37	c.484	CCDS3209.1	3	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202067	0.58234	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.56776	0.44;0.44	6.16	5.29	0.74685	.	0.174258	0.52532	D	0.000070	T	0.50633	0.1627	M	0.66939	2.045	0.39920	D	0.97414	B	0.34200	0.441	B	0.26094	0.066	T	0.58352	-0.7651	10	0.87932	D	0	-12.9578	15.0803	0.72108	0.068:0.0:0.932:0.0	.	162	Q7Z3H4	SAMD7_HUMAN	R	162	ENSP00000391299:G162R;ENSP00000334668:G162R	ENSP00000334668:G162R	G	+	1	0	SAMD7	171127228	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	6.903000	0.75703	1.623000	0.50342	0.650000	0.86243	GGA	-	NULL		0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD7	protein_coding	OTTHUMT00000351959.1	G	NM_182610	-		169644534	1	no_errors	ENST00000335556	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169644534	G	A	169644534	3	1	196	1	0	0	0	0	1	0	0	0	13832	1233	43	2	498	2	SAMD7	3	169644534	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	104179	169644534	28377896	588	13860											
TNIK	23043	genome.wustl.edu	37	chr3	170875363	170875363	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgctccagctgctgcctCcgtagggcctcagaacgctc	11	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:170875363C>T	ENST00000436636.2	-	12	1451	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	TNIK_ENST00000538048.1_Silent_p.R369R|TNIK_ENST00000341852.6_Silent_p.R369R|TNIK_ENST00000460047.1_Silent_p.R369R|TNIK_ENST00000488470.1_Silent_p.R369R|TNIK_ENST00000369326.5_Silent_p.R369R|TNIK_ENST00000475336.1_Silent_p.R369R|TNIK_ENST00000470834.1_Silent_p.R369R|TNIK_ENST00000284483.8_Silent_p.R369R|TNIK_ENST00000357327.5_Silent_p.R369R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	369	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			gctgctgcCTCCGTAGGGCCT	0.632																																																	0								ENSG00000154310						12	15	14					3																	170875363		2122	4231	6353	TNIK	SO:0001819	synonymous_variant	0			-	HGNC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1107G>A	3.37:g.170875363C>T		Somatic	0	53	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	44	43.04	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R369	ENST00000436636.2	37	c.1107	CCDS46956.1	3																																																																																			-	NULL		0.632	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	protein_coding	OTTHUMT00000352973.2	C	XM_039796	-		170875363	-1	no_errors	ENST00000436636	ensembl	human	known	74_37	silent	SNP	0.997	T	T	170875363	C	T	170875363	2	4	196	1	0	0	0	0	0	0	0	1	16320	842	30	2		2	TNIK	3	170875363	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1230829	170875363	27147067	589	13861											
NLGN1	22871	genome.wustl.edu	37	chr3	173998573	173998573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcacgtcagcctttcCcactgccaagcaggatgatc	8	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:173998573C>T	ENST00000457714.1	+	7	2381	c.1952C>T	c.(1951-1953)cCc>cTc	p.P651L	NLGN1_ENST00000401917.3_Missense_Mutation_p.P691L|NLGN1_ENST00000545397.1_Missense_Mutation_p.P651L|NLGN1_ENST00000361589.4_Missense_Mutation_p.P651L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	668					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCAGCCTTTCCCACTGCCAAG	0.443																																																	0								ENSG00000169760						116	117	117					3																	173998573		2203	4300	6503	NLGN1	SO:0001583	missense	0			-	HGNC	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1952C>T	3.37:g.173998573C>T	ENSP00000392500:p.Pro651Leu	Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	Q9UPT2	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P691L	ENST00000457714.1	37	c.2072	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131425	0.56828	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.31;-0.31;-0.31;-0.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	M	0.73217	2.22	0.80722	D	1	P	0.40302	0.712	B	0.42030	0.373	T	0.70974	-0.4726	10	0.39692	T	0.17	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	651	Q8N2Q7-2	.	L	651;651;651;691	ENSP00000392500:P651L;ENSP00000354541:P651L;ENSP00000441108:P651L;ENSP00000385750:P691L	ENSP00000354541:P651L	P	+	2	0	NLGN1	175481267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	CCC	-	NULL		0.443	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	protein_coding	OTTHUMT00000347054.3	C	NM_014932	-		173998573	1	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	SNP	1.000	T	T	173998573	C	T	173998573	3	4	196	1	0	0	0	0	1	0	0	0	10463	623	22	2	1970	2	NLGN1	3	173998573	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3123210	173998573	24023857	590	13862											
DVL3	1857	genome.wustl.edu	37	chr3	183884038	183884038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggacgcatcgagccaggAgatatgttgttacaggtatc	13	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183884038A>G	ENST00000313143.3	+	8	1136	c.888A>G	c.(886-888)ggA>ggG	p.G296G	DVL3_ENST00000431765.1_Silent_p.G296G|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	296	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCGAGCCAGGAGATATGTTGT	0.582																																																	0								ENSG00000161202						82	73	76					3																	183884038		2203	4300	6503	DVL3	SO:0001819	synonymous_variant	0			-	HGNC	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.888A>G	3.37:g.183884038A>G		Somatic	0	30	0		0.52429534266604	29	44.23	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP							pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3	p.G296	ENST00000313143.3	37	c.888	CCDS3253.1	3																																																																																			-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.582	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	protein_coding	OTTHUMT00000346184.1	A	NM_004423	-		183884038	1	no_errors	ENST00000313143	ensembl	human	known	74_37	silent	SNP	0.936	G	G	183884038	A	G	183884038	2	3	196	1	0	0	0	0	0	0	0	1	4839	291	11	5		5	DVL3	3	183884038	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	9885465	183884038	14138392	591	13863											
AP2M1	1173	genome.wustl.edu	37	chr3	183897978	183897978	+	Missense_Mutation	SNP	C	C	T													gattctagactttggctaccCacagaattccgagacaggcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183897978C>T	ENST00000292807.5	+	4	510	c.362C>T	c.(361-363)cCa>cTa	p.P121L	AP2M1_ENST00000382456.3_Missense_Mutation_p.P121L|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.P121L|AP2M1_ENST00000411763.2_Missense_Mutation_p.P146L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	121					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGGCTACCCACAGAATTCC	0.517																																																	0								ENSG00000161203						63	63	63					3																	183897978		1947	4136	6083	AP2M1	SO:0001583	missense	0			-	HGNC	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.362C>T	3.37:g.183897978C>T	ENSP00000292807:p.Pro121Leu	Somatic	0	58	0		0.52429534266604	605	25.52	208	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	29.58	A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP							pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.P121L	ENST00000292807.5	37	c.362	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737466	0.89482	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.71103	-0.42;-0.54;-0.47;-0.42	5.38	5.38	0.77491	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.996	D	0.91518	0.5232	10	0.87932	D	0	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	121;146;121	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	L	121;146;121;61;108;123;121;121;121	ENSP00000371894:P121L;ENSP00000403362:P146L;ENSP00000292807:P121L;ENSP00000409081:P121L	ENSP00000292807:P121L	P	+	2	0	AP2M1	185380672	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.110000	0.77069	2.813000	0.96785	0.655000	0.94253	CCA	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.517	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	protein_coding	OTTHUMT00000346013.1	C	NM_004068	-		183897978	1	no_errors	ENST00000292807	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183897978	C	T	183897978	3	4	196	1	0	0	0	0	1	0	0	0	742	594	21	2	372	2	AP2M1	3	183897978	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	13940	183897978	14124452	592	13864	254	3									
AP2M1	1173	genome.wustl.edu	37	chr3	183897987	183897987	+	Missense_Mutation	SNP	C	C	T													ctttggctacccacagaattCcgagacaggcgcgctgaaaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183897987C>T	ENST00000292807.5	+	4	519	c.371C>T	c.(370-372)tCc>tTc	p.S124F	AP2M1_ENST00000382456.3_Missense_Mutation_p.S124F|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.S124F|AP2M1_ENST00000411763.2_Missense_Mutation_p.S149F	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACAGAATTCCGAGACAGGC	0.512																																																	0								ENSG00000161203						61	62	62					3																	183897987		1949	4141	6090	AP2M1	SO:0001583	missense	0			-	HGNC	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.371C>T	3.37:g.183897987C>T	ENSP00000292807:p.Ser124Phe	Somatic	0	56	0		0.52429534266604	790	25.42	270	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP							pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S124F	ENST00000292807.5	37	c.371	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895089	0.72639	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.63580	-0.05;-0.05;-0.04;-0.05	5.38	5.38	0.77491	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.64997	1.995	0.80722	D	1	D;P;D	0.76494	0.999;0.459;0.999	D;B;D	0.69654	0.965;0.122;0.942	T	0.78775	-0.2072	10	0.87932	D	0	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	124;149;124	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	F	124;149;124;64;111;126;124;124;124	ENSP00000371894:S124F;ENSP00000403362:S149F;ENSP00000292807:S124F;ENSP00000409081:S124F	ENSP00000292807:S124F	S	+	2	0	AP2M1	185380681	1.000000	0.71417	0.980000	0.43619	0.839000	0.47603	7.110000	0.77069	2.813000	0.96785	0.655000	0.94253	TCC	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.512	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	protein_coding	OTTHUMT00000346013.1	C	NM_004068	-		183897987	1	no_errors	ENST00000292807	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183897987	C	T	183897987	3	4	196	1	0	0	0	0	1	0	0	0	742	855	30	2	381	2	AP2M1	3	183897987	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9	183897987	14124443	593	13865	254	3									
AP2M1	1173	genome.wustl.edu	37	chr3	183897988	183897988	+	Silent	SNP	C	C	T													tttggctacccacagaattcCgagacaggcgcgctgaaaac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183897988C>T	ENST00000292807.5	+	4	520	c.372C>T	c.(370-372)tcC>tcT	p.S124S	AP2M1_ENST00000382456.3_Silent_p.S124S|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Silent_p.S124S|AP2M1_ENST00000411763.2_Silent_p.S149S	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACAGAATTCCGAGACAGGCG	0.512																																																	0								ENSG00000161203						61	62	61					3																	183897988		1948	4143	6091	AP2M1	SO:0001819	synonymous_variant	0			-	HGNC	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.372C>T	3.37:g.183897988C>T		Somatic	0	58	0		0.52429534266604	810	25.62	279	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	A6NE12|D3DNT1|P20172|P53679	Silent	SNP							pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S124	ENST00000292807.5	37	c.372	CCDS43177.1	3																																																																																			-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.512	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	protein_coding	OTTHUMT00000346013.1	C	NM_004068	-		183897988	1	no_errors	ENST00000292807	ensembl	human	known	74_37	silent	SNP	0.050	T	T	183897988	C	T	183897988	2	4	196	1	0	0	0	0	0	0	0	1	742	639	23	1		1	AP2M1	3	183897988	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	183897988	14124442	594	13866	254	3									
ECE2	9718	genome.wustl.edu	37	chr3	183994374	183994374	+	Intron	SNP	C	C	T													aggtgggcaagggggcttccCctttctcaccaggccccagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183994374C>T	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.P49S|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGGCTTCCCCTTTCTCACC	0.687																																																	0								ENSG00000145194						17	20	19					3																	183994374		1966	4131	6097	ECE2	SO:0001627	intron_variant	0			-	HGNC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-306C>T	3.37:g.183994374C>T		Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	38	35.59	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.P49S	ENST00000402825.3	37	c.145	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315474	0.40996	.	.	ENSG00000145194	ENST00000357474	T	0.81415	-1.49	2.56	2.56	0.30785	.	1.045000	0.07803	U	0.956839	T	0.63792	0.2541	N	0.08118	0	0.09310	N	1	B;B	0.31655	0.334;0.093	B;B	0.31869	0.137;0.094	T	0.52155	-0.8613	9	.	.	.	.	10.7758	0.46348	0.0:1.0:0.0:0.0	.	49;49	B7Z1P1;O60344-5	.;.	S	49	ENSP00000350066:P49S	.	P	+	1	0	ECE2	185477068	0.001000	0.12720	0.006000	0.13384	0.848000	0.48234	1.014000	0.29950	1.762000	0.52044	0.462000	0.41574	CCT	-	NULL		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	C	NM_014693	-		183994374	1	no_errors	ENST00000357474	ensembl	human	novel	74_37	missense	SNP	0.072	T	T	183994374	C	T	183994374	1	4	196	0	1	0	0	0	0	0	0	0	4892	623	22	2		2	ECE2	3	183994374	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	96386	183994374	14028056	595	13867	255	2									
ECE2	9718	genome.wustl.edu	37	chr3	183994375	183994375	+	Intron	SNP	C	C	T													ggtgggcaagggggcttcccCtttctcaccaggccccagcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183994375C>T	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.P49L|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCTTCCCCTTTCTCACCA	0.687																																																	0								ENSG00000145194						17	20	19					3																	183994375		1966	4130	6096	ECE2	SO:0001627	intron_variant	0			-	HGNC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-305C>T	3.37:g.183994375C>T		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.P49L	ENST00000402825.3	37	c.146	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621520	0.46736	.	.	ENSG00000145194	ENST00000357474	D	0.81659	-1.52	3.36	1.42	0.22433	.	1.045000	0.07803	U	0.956839	T	0.59569	0.2203	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44421	-0.9329	9	.	.	.	.	5.4005	0.16293	0.0:0.6673:0.2082:0.1246	.	49;49	B7Z1P1;O60344-5	.;.	L	49	ENSP00000350066:P49L	.	P	+	2	0	ECE2	185477069	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	-0.110000	0.10824	0.366000	0.24427	0.462000	0.41574	CCT	-	NULL		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	C	NM_014693	-		183994375	1	no_errors	ENST00000357474	ensembl	human	novel	74_37	missense	SNP	0.071	T	T	183994375	C	T	183994375	1	4	196	0	1	0	0	0	0	0	0	0	4892	681	24	2		2	ECE2	3	183994375	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	183994375	14028055	596	13868	255	2									
EIF4G1	1981	genome.wustl.edu	37	chr3	184039474	184039474	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaatggcatggtcccatctGaagatctggaaccagaggtg	12	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:184039474G>A	ENST00000346169.2	+	10	1373	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	EIF4G1_ENST00000424196.1_Missense_Mutation_p.E375K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E281K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E375K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E328K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E281K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E204K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E375K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E368K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E204K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E368K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E328K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E172K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E172K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	368					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCCATCTGAAGATCTGGA	0.557																																																	0								ENSG00000114867						121	127	125					3																	184039474		2203	4300	6503	EIF4G1	SO:0001583	missense	0			-	HGNC	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1102G>A	3.37:g.184039474G>A	ENSP00000316879:p.Glu368Lys	Somatic	0	47	0		0.52429534266604	31	21.95	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	62	13.70	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E375K	ENST00000346169.2	37	c.1123	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997848	0.74818	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	3.95;3.93;3.88;2.87;2.87;3.95;3.04;3.75;3.95;3.86;3.95;3.95;3.95;3.94;2.42;3.74;3.72;0.81;3.7	5.5	5.5	0.81552	.	0.293072	0.33712	N	0.004627	T	0.53061	0.1773	L	0.27053	0.805	0.42711	D	0.993648	B;B;P;P	0.52842	0.18;0.18;0.956;0.651	B;B;D;B	0.65010	0.06;0.06;0.931;0.165	T	0.37842	-0.9688	10	0.20519	T	0.43	-10.7264	16.2625	0.82553	0.0:0.0:1.0:0.0	.	375;368;368;375	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	368;328;281;368;375;375;309;204;375;281;368;368;375;328;204;204;172;172;172	ENSP00000316879:E368K;ENSP00000391935:E328K;ENSP00000376320:E281K;ENSP00000391412:E368K;ENSP00000413159:E375K;ENSP00000371767:E375K;ENSP00000403269:E309K;ENSP00000317600:E204K;ENSP00000338020:E375K;ENSP00000407682:E281K;ENSP00000343450:E368K;ENSP00000323737:E368K;ENSP00000416255:E375K;ENSP00000395974:E328K;ENSP00000398145:E204K;ENSP00000399858:E204K;ENSP00000411826:E172K;ENSP00000399969:E172K;ENSP00000404754:E172K	ENSP00000323737:E368K	E	+	1	0	EIF4G1	185522168	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.445000	0.66594	2.861000	0.98227	0.655000	0.94253	GAA	-	NULL		0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	protein_coding	OTTHUMT00000345733.1	G	NM_182917	-		184039474	1	no_errors	ENST00000352767	ensembl	human	known	74_37	missense	SNP	0.995	A	A	184039474	G	A	184039474	3	1	196	1	0	0	0	0	1	0	0	0	5038	1291	45	2	1132	2	EIF4G1	3	184039474	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	45099	184039474	13982956	597	13869											
IGF2BP2	10644	genome.wustl.edu	37	chr3	185407306	185407306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggaagagtggtcccCacgctgggctcgctgagggg	17	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:185407306C>T	ENST00000382199.2	-	6	609	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.G172R|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.G178R|IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.G115R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	172					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAGTGGTCCCCACGCTGGGCT	0.602																																																	0								ENSG00000073792						52	57	55					3																	185407306		2203	4300	6503	IGF2BP2	SO:0001583	missense	0			-	HGNC	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.514G>A	3.37:g.185407306C>T	ENSP00000371634:p.Gly172Arg	Somatic	0	28	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	51	21.54	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G172R	ENST00000382199.2	37	c.514	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021808	0.75275	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.48201	2.02;0.82;2.31;2.02	5.09	5.09	0.68999	.	0.155127	0.64402	D	0.000020	T	0.63426	0.2510	L	0.59436	1.845	0.80722	D	1	B;D;D;D;P;D	0.71674	0.373;0.998;0.995;0.998;0.548;0.997	B;D;D;D;B;D	0.74674	0.297;0.984;0.975;0.975;0.384;0.953	T	0.58940	-0.7547	10	0.30078	T	0.28	-11.6841	15.7779	0.78240	0.0:1.0:0.0:0.0	.	109;109;115;178;172;172	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	R	172;115;178;172	ENSP00000371634:G172R;ENSP00000413787:G115R;ENSP00000410242:G178R;ENSP00000320204:G172R	ENSP00000320204:G172R	G	-	1	0	IGF2BP2	186890000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.882000	0.63121	2.515000	0.84797	0.655000	0.94253	GGG	-	NULL		0.602	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	protein_coding	OTTHUMT00000157087.2	C	NM_006548	-		185407306	-1	no_errors	ENST00000382199	ensembl	human	known	74_37	missense	SNP	1.000	T	T	185407306	C	T	185407306	3	4	196	1	0	0	0	0	1	0	0	0	7576	594	21	2	1329	2	IGF2BP2	3	185407306	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1367832	185407306	12615124	598	13870											
FETUB	26998	genome.wustl.edu	37	chr3	186370413	186370413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagccctcttgtccttcCgccatgagaatcacacagag	8	15	2	2	rs552370206	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186370413C>T	ENST00000265029.3	+	7	1243	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.P316L|FETUB_ENST00000382136.3_Missense_Mutation_p.P344L|FETUB_ENST00000450521.1_Missense_Mutation_p.P381L|FETUB_ENST00000539949.1_Missense_Mutation_p.P233L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	381					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.P381Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTGTCCTTCCGCCATGAGAA	0.582													C|||	2	0.000399361	0	0	5008	,	,		19270	0.002		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						ENSG00000090512						34	37	36					3																	186370413		2203	4296	6499	FETUB	SO:0001583	missense	0			-	HGNC	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1142C>T	3.37:g.186370413C>T	ENSP00000265029:p.Pro381Leu	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.22	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP							pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.P381L	ENST00000265029.3	37	c.1142	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353388	0.61293	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.10960	2.92;3.01;2.92;3.29;2.82	4.71	4.71	0.59529	.	0.000000	0.53938	D	0.000042	T	0.20820	0.0501	M	0.68952	2.095	0.50313	D	0.999868	D;D;D	0.71674	0.996;0.998;0.983	P;P;P	0.50708	0.5;0.648;0.448	T	0.00453	-1.1730	10	0.87932	D	0	-7.9789	13.377	0.60745	0.0:1.0:0.0:0.0	.	344;316;381	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	L	381;233;381;316;344	ENSP00000404288:P381L;ENSP00000443704:P233L;ENSP00000265029:P381L;ENSP00000371569:P316L;ENSP00000371571:P344L	ENSP00000265029:P381L	P	+	2	0	FETUB	187853107	0.017000	0.18338	0.413000	0.26509	0.003000	0.03518	1.862000	0.39448	2.619000	0.88677	0.655000	0.94253	CCG	-	NULL		0.582	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	protein_coding	OTTHUMT00000344679.1	C	NM_014375	-		186370413	1	no_errors	ENST00000265029	ensembl	human	known	74_37	missense	SNP	0.785	T	T	186370413	C	T	186370413	3	4	196	1	0	0	0	0	1	0	0	0	5823	652	23	1	1168	1	FETUB	3	186370413	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	963107	186370413	11652017	599	13871											
MASP1	5648	genome.wustl.edu	37	chr3	186944248	186944248	+	Missense_Mutation	SNP	G	G	A													agtctgaatcacgtagggtcGgatcttccggatcgagtgac					rs530517293	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186944248G>A	ENST00000337774.5	-	12	1891	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	501	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.P501Q(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)		ACGTAGGGTCGGATCTTCCGG	0.567													G|||	2	0.000399361	0	0	5008	,	,		19382	0.002		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						ENSG00000127241						149	122	131					3																	186944248		2203	4300	6503	MASP1	SO:0001583	missense	0			-	HGNC	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.1502C>T	3.37:g.186944248G>A	ENSP00000336792:p.Pro501Leu	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	56	42.86	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P501L	ENST00000337774.5	37	c.1502	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818192	0.32145	.	.	ENSG00000127241	ENST00000337774	D	0.83673	-1.75	5.86	3.13	0.36017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68815	0.3042	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50533	-0.8817	9	0.11794	T	0.64	.	5.7078	0.17919	0.1613:0.0:0.6832:0.1556	.	501	P48740	MASP1_HUMAN	L	501	ENSP00000336792:P501L	ENSP00000336792:P501L	P	-	2	0	MASP1	188426942	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.194000	0.32174	0.400000	0.25396	0.563000	0.77884	CCG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.567	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	G	NM_001879	-		186944248	-1	no_errors	ENST00000337774	ensembl	human	known	74_37	missense	SNP	0.000	A	A	186944248	G	A	186944248	3	1	196	1	0	0	0	0	1	0	0	0	9324	1116	39	1	617	1	MASP1	3	186944248	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	573835	186944248	11078182	600	13872	256	2									
MASP1	5648	genome.wustl.edu	37	chr3	186944249	186944249	+	Missense_Mutation	SNP	G	G	A													gtctgaatcacgtagggtcgGatcttccggatcgagtgact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186944249G>A	ENST00000337774.5	-	12	1890	c.1501C>T	c.(1501-1503)Ccg>Tcg	p.P501S		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	501	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)			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)		CGTAGGGTCGGATCTTCCGGA	0.572																																																	0								ENSG00000127241						149	122	131					3																	186944249		2203	4300	6503	MASP1	SO:0001583	missense	0			-	HGNC	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.1501C>T	3.37:g.186944249G>A	ENSP00000336792:p.Pro501Ser	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	56	42.86	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P501S	ENST00000337774.5	37	c.1501	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	3.503	-0.101492	0.06967	.	.	ENSG00000127241	ENST00000337774	D	0.83591	-1.74	5.86	-1.42	0.08913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68174	0.2972	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50206	-0.8855	9	0.20519	T	0.43	.	6.1437	0.20273	0.4436:0.1361:0.4203:0.0	.	501	P48740	MASP1_HUMAN	S	501	ENSP00000336792:P501S	ENSP00000336792:P501S	P	-	1	0	MASP1	188426943	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.442000	0.21628	-0.104000	0.12154	0.563000	0.77884	CCG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	G	NM_001879	-		186944249	-1	no_errors	ENST00000337774	ensembl	human	known	74_37	missense	SNP	0.000	A	A	186944249	G	A	186944249	3	1	196	1	0	0	0	0	1	0	0	0	9324	1174	41	2	618	2	MASP1	3	186944249	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	186944249	11078181	601	13873	256	2									
MASP1	5648	genome.wustl.edu	37	chr3	186954286	186954286	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccacgggaagaggccaGgctcagcatttcggccccca	12	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186954286G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000296280.6_Missense_Mutation_p.P458L|MASP1_ENST00000392472.2_Missense_Mutation_p.P345L|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						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)			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)		GAAGAGGCCAGGCTCAGCATT	0.602																																																	0								ENSG00000127241						96	97	97					3																	186954286		2203	4300	6503	MASP1	SO:0001627	intron_variant	0			-	HGNC	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.1303+4982C>T	3.37:g.186954286G>A		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	30	46.43	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.P458L	ENST00000337774.5	37	c.1373	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116684	0.37339	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	D;D	0.88975	-2.45;-2.45	6.07	5.19	0.71726	.	0.373338	0.31381	N	0.007743	T	0.80914	0.4715	N	0.20685	0.6	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.17433	0.018;0.005	T	0.74601	-0.3611	10	0.21014	T	0.42	.	13.5816	0.61907	0.0749:0.0:0.9251:0.0	.	345;458	P48740-4;P48740-2	.;.	L	458;345;345	ENSP00000296280:P458L;ENSP00000376264:P345L	ENSP00000296280:P458L	P	-	2	0	MASP1	188436980	1.000000	0.71417	0.911000	0.35937	0.821000	0.46438	7.564000	0.82326	1.549000	0.49425	0.655000	0.94253	CCT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.602	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	G	NM_001879	-		186954286	-1	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186954286	G	A	186954286	1	1	196	0	1	0	0	0	0	0	0	0	9324	1000	35	2		2	MASP1	3	186954286	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10037	186954286	11068144	602	13874											
PYDC2	152138	genome.wustl.edu	37	chr3	191179057	191179057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagaacaatctccctgGgaaaggagctacagaccgtc	10	11	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:191179057G>A	ENST00000518817.1	+	1	106	c.106G>A	c.(106-108)Gga>Aga	p.G36R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	36	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AATCTCCCTGGGAAAGGAGCT	0.532																																																	0								ENSG00000253548						77	85	82					3																	191179057		2202	4300	6502	PYDC2	SO:0001583	missense	0			-	HGNC			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.106G>A	3.37:g.191179057G>A	ENSP00000428325:p.Gly36Arg	Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	55	39.56		Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	p.G36R	ENST00000518817.1	37	c.106		3	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489215	0.26686	.	.	ENSG00000253548	ENST00000518817	T	0.43688	0.94	0.688	-1.06	0.10002	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.29882	0.0747	.	.	.	0.09310	N	1	P	0.49185	0.92	B	0.42462	0.388	T	0.15122	-1.0448	7	0.42905	T	0.14	.	.	.	.	.	36	Q56P42	PYDC2_HUMAN	R	36	ENSP00000428325:G36R	ENSP00000428325:G36R	G	+	1	0	PYDC2	192661751	0.174000	0.23070	0.006000	0.13384	0.281000	0.26958	0.095000	0.15127	-0.369000	0.08028	0.313000	0.20887	GGA	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.532	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	PYDC2	protein_coding	OTTHUMT00000343231.2	G	NM_001083308	-		191179057	1	no_errors	ENST00000518817	ensembl	human	known	74_37	missense	SNP	0.007	A	A	191179057	G	A	191179057	3	1	196	1	0	0	0	0	1	0	0	0	12867	1233	43	2	108	2	PYDC2	3	191179057	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4224771	191179057	6843373	603	13875											
ATP13A4	84239	genome.wustl.edu	37	chr3	193160292	193160292	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagaatgactttctggctttCagaaaccattccagattttc	7	9	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:193160292C>T	ENST00000342695.4	-	19	2528	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E717K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	736						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCTGGCTTTCAGAAACCATT	0.408																																																	0								ENSG00000127249						112	107	109					3																	193160292		2203	4300	6503	ATP13A4	SO:0001583	missense	0			-	HGNC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2206G>A	3.37:g.193160292C>T	ENSP00000339182:p.Glu736Lys	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	57	26.92	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.E736K	ENST00000342695.4	37	c.2206	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827325	0.32329	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.57107	0.42;0.42	5.87	4.1	0.47936	HAD-like domain (2);	0.388909	0.26590	N	0.023525	T	0.32041	0.0816	N	0.17674	0.51	0.20307	N	0.999918	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.008;0.005;0.008	T	0.18745	-1.0327	10	0.10902	T	0.67	-14.4354	8.4567	0.32903	0.0:0.7303:0.1275:0.1422	.	717;736;736	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	K	717;736	ENSP00000376238:E717K;ENSP00000339182:E736K	ENSP00000339182:E736K	E	-	1	0	ATP13A4	194642986	0.000000	0.05858	0.934000	0.37439	0.974000	0.67602	0.363000	0.20301	0.949000	0.37715	-0.137000	0.14449	GAA	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	protein_coding	OTTHUMT00000157244.4	C	NM_032279	-		193160292	-1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	SNP	0.249	T	T	193160292	C	T	193160292	3	4	196	1	0	0	0	0	1	0	0	0	1126	835	29	2	1432	2	ATP13A4	3	193160292	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1981235	193160292	4862138	604	13876											
CPN2	1370	genome.wustl.edu	37	chr3	194063260	194063260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgtggtgaacgaggtctCcacaaagatgatgtttttcg	11	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:194063260C>T	ENST00000323830.3	-	2	261	c.172G>A	c.(172-174)Gag>Aag	p.E58K	CPN2_ENST00000429275.1_Missense_Mutation_p.E58K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	58					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	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;4.65e-05)		AACGAGGTCTCCACAAAGATG	0.527																																																	0								ENSG00000178772						154	141	146					3																	194063260		2203	4300	6503	CPN2	SO:0001583	missense	0			-	HGNC	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"carboxypeptidase N, polypeptide 2, 83kD"	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.172G>A	3.37:g.194063260C>T	ENSP00000319464:p.Glu58Lys	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E58K	ENST00000323830.3	37	c.172	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383673	0.42308	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.23950	1.88;1.88	5.19	4.31	0.51392	.	0.000000	0.38272	N	0.001759	T	0.23766	0.0575	L	0.48362	1.52	0.37505	D	0.916916	B	0.25390	0.125	B	0.22753	0.041	T	0.09015	-1.0694	10	0.29301	T	0.29	.	14.2312	0.65892	0.0:0.9275:0.0:0.0725	.	58	P22792	CPN2_HUMAN	K	58	ENSP00000319464:E58K;ENSP00000402232:E58K	ENSP00000319464:E58K	E	-	1	0	CPN2	195544955	0.876000	0.30132	0.990000	0.47175	0.480000	0.33159	1.571000	0.36450	1.327000	0.45338	0.561000	0.74099	GAG	-	NULL		0.527	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	protein_coding	OTTHUMT00000342856.2	C	NM_001080513	-		194063260	-1	no_errors	ENST00000323830	ensembl	human	known	74_37	missense	SNP	1.000	T	T	194063260	C	T	194063260	3	4	196	1	0	0	0	0	1	0	0	0	3812	864	30	2	1469	2	CPN2	3	194063260	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	902968	194063260	3959170	605	13877											
TNK2	10188	genome.wustl.edu	37	chr3	195611735	195611735	+	Missense_Mutation	SNP	C	C	T													tgcgcaccacgccaaaggaaCcatcacccagcttctccagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195611735C>T	ENST00000333602.6	-	4	1021	c.404G>A	c.(403-405)gGt>gAt	p.G135D	TNK2_ENST00000316664.3_Missense_Mutation_p.G135D|TNK2_ENST00000392400.1_Missense_Mutation_p.G135D|TNK2_ENST00000381916.2_Missense_Mutation_p.G198D|TNK2_ENST00000428187.1_Missense_Mutation_p.G167D|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCCAAAGGAACCATCACCCAG	0.701																																																	0								ENSG00000061938						37	36	37					3																	195611735		2203	4300	6503	TNK2	SO:0001583	missense	0			-	HGNC	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.404G>A	3.37:g.195611735C>T	ENSP00000329425:p.Gly135Asp	Somatic	0	61	0		0.52429534266604	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	59	31.40	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G198D	ENST00000333602.6	37	c.593	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661149	0.67700	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	4.84	4.84	0.62591	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	0.97461	0.9169	H	0.96777	3.88	0.80722	D	1	B;B;D;B	0.55385	0.03;0.019;0.971;0.061	B;B;P;B	0.51657	0.03;0.047;0.676;0.281	D	0.98985	1.0806	10	0.87932	D	0	.	16.8724	0.86043	0.0:1.0:0.0:0.0	.	135;135;198;167	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	D	135;198;167;135;135	ENSP00000329425:G135D;ENSP00000371341:G198D;ENSP00000392546:G167D;ENSP00000376201:G135D;ENSP00000323216:G135D	ENSP00000323216:G135D	G	-	2	0	TNK2	197096132	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.108000	0.77055	2.402000	0.81655	0.407000	0.27541	GGT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.701	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	protein_coding	OTTHUMT00000341437.3	C	NM_005781	-		195611735	-1	no_errors	ENST00000381916	ensembl	human	known	74_37	missense	SNP	1.000	T	T	195611735	C	T	195611735	3	4	196	1	0	0	0	0	1	0	0	0	16325	507	18	2	2809	2	TNK2	3	195611735	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1548475	195611735	2410695	606	13878	257	2									
TNK2	10188	genome.wustl.edu	37	chr3	195611736	195611736	+	Missense_Mutation	SNP	C	C	T													gcgcaccacgccaaaggaacCatcacccagcttctccagga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195611736C>T	ENST00000333602.6	-	4	1020	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	TNK2_ENST00000316664.3_Missense_Mutation_p.G135S|TNK2_ENST00000392400.1_Missense_Mutation_p.G135S|TNK2_ENST00000381916.2_Missense_Mutation_p.G198S|TNK2_ENST00000428187.1_Missense_Mutation_p.G167S|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCAAAGGAACCATCACCCAGC	0.701																																																	0								ENSG00000061938						37	37	37					3																	195611736		2203	4300	6503	TNK2	SO:0001583	missense	0			-	HGNC	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.403G>A	3.37:g.195611736C>T	ENSP00000329425:p.Gly135Ser	Somatic	0	60	0		0.52429534266604	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	59	32.18	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G198S	ENST00000333602.6	37	c.592	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017280	0.93404	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.99	4.99	0.66335	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	0.97904	0.9311	M	0.93720	3.45	0.80722	D	1	P;B;P;P	0.41910	0.503;0.379;0.689;0.764	B;B;P;P	0.60949	0.292;0.397;0.472;0.881	D	0.98925	1.0785	10	0.87932	D	0	.	17.2061	0.86918	0.0:1.0:0.0:0.0	.	135;135;198;167	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	S	135;198;167;135;135	ENSP00000329425:G135S;ENSP00000371341:G198S;ENSP00000392546:G167S;ENSP00000376201:G135S;ENSP00000323216:G135S	ENSP00000323216:G135S	G	-	1	0	TNK2	197096133	1.000000	0.71417	0.993000	0.49108	0.753000	0.42808	7.143000	0.77348	2.480000	0.83734	0.407000	0.27541	GGT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.701	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	protein_coding	OTTHUMT00000341437.3	C	NM_005781	-		195611736	-1	no_errors	ENST00000381916	ensembl	human	known	74_37	missense	SNP	1.000	T	T	195611736	C	T	195611736	3	4	196	1	0	0	0	0	1	0	0	0	16325	594	21	2	2810	2	TNK2	3	195611736	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	195611736	2410694	607	13879	257	2									
SENP5	205564	genome.wustl.edu	37	chr3	196612776	196612776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattatccatgattagatttCggtacaggattctcagatcc	7	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:196612776C>T	ENST00000323460.5	+	2	973	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	SENP5_ENST00000445299.2_Missense_Mutation_p.R242W|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GATTAGATTTCGGTACAGGAT	0.418																																					Ovarian(47;891 1095 11174 13858 51271)												0								ENSG00000119231						42	47	45					3																	196612776		2200	4299	6499	SENP5	SO:0001583	missense	0			-	HGNC	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.724C>T	3.37:g.196612776C>T	ENSP00000327197:p.Arg242Trp	Somatic	0	41	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	B4DY82|Q96SA5	Missense_Mutation	SNP							pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R242W	ENST00000323460.5	37	c.724	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511232	0.64522	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.59364	0.27;0.27	5.58	5.58	0.84498	.	0.339445	0.25487	N	0.030337	T	0.66046	0.2750	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67548	0.765;0.952	T	0.67814	-0.5573	10	0.87932	D	0	-4.7463	15.4569	0.75321	0.0:1.0:0.0:0.0	.	242;242	B4DY82;Q96HI0	.;SENP5_HUMAN	W	242	ENSP00000327197:R242W;ENSP00000390231:R242W	ENSP00000327197:R242W	R	+	1	2	SENP5	198097173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.224000	0.51238	2.793000	0.96121	0.655000	0.94253	CGG	-	NULL		0.418	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	protein_coding	OTTHUMT00000340524.1	C	NM_152699	-		196612776	1	no_errors	ENST00000323460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196612776	C	T	196612776	3	4	196	1	0	0	0	0	1	0	0	0	14057	875	31	1	726	1	SENP5	3	196612776	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1001040	196612776	1409654	608	13880											
ZNF732	654254	genome.wustl.edu	37	chr4	265861	265861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgcttagtaagggttgagGacctattaaaggctttgcca	11	6	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:265861G>A	ENST00000419098.1	-	4	795	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	262					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(1)|lung(2)	3						AAGGGTTGAGGACCTATTAAA	0.373																																																	0								ENSG00000186777						59	51	54					4																	265861		692	1591	2283	ZNF732	SO:0001583	missense	0			-	HGNC	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.785C>T	4.37:g.265861G>A	ENSP00000415774:p.Ser262Phe	Somatic	0	39	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S262F	ENST00000419098.1	37	c.785	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	6.446	0.450374	0.12223	.	.	ENSG00000186777	ENST00000419098	T	0.16196	2.36	0.937	-0.906	0.10524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	M	0.76574	2.34	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.35176	-0.9799	9	0.20519	T	0.43	.	5.5301	0.16980	0.0:0.5979:0.4021:0.0	.	262	B4DXR9	ZN732_HUMAN	F	262	ENSP00000415774:S262F	ENSP00000415774:S262F	S	-	2	0	ZNF732	255861	0.000000	0.05858	0.086000	0.20670	0.079000	0.17450	-2.831000	0.00743	0.392000	0.25172	0.393000	0.25936	TCC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	protein_coding	OTTHUMT00000357937.2	G	NM_001137608	-		265861	-1	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	SNP	0.000	A	A	265861	G	A	265861	3	1	196	1	0	0	0	0	1	0	0	0	18130	1174	41	2	976	2	ZNF732	4	265861	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		265861	190888415	609	13881											
PIGG	54872	genome.wustl.edu	37	chr4	517561	517561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacggaagcccctctacctCcgaagtgctcagaggccgcg	11	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:517561C>T	ENST00000453061.2	+	9	2034	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	PIGG_ENST00000310340.5_Missense_Mutation_p.S635F|PIGG_ENST00000504346.1_Missense_Mutation_p.S554F|PIGG_ENST00000383028.4_Missense_Mutation_p.S510F|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	643					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCCTCTACCTCCGAAGTGCTC	0.637																																																	0								ENSG00000174227						44	42	43					4																	517561		2203	4299	6502	PIGG	SO:0001583	missense	0			-	HGNC		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1928C>T	4.37:g.517561C>T	ENSP00000415203:p.Ser643Phe	Somatic	0	17	0		0.52429534266604	32	34	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP							pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S643F	ENST00000453061.2	37	c.1928	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	C	5.860	0.342771	0.11069	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10192	3.21;3.21;2.9;2.9	5.02	1.77	0.24775	.	3.294330	0.00853	N	0.001849	T	0.08891	0.0220	L	0.29908	0.895	0.09310	N	0.999995	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.003	T	0.35574	-0.9783	10	0.10377	T	0.69	.	6.7924	0.23707	0.0:0.3347:0.0:0.6653	.	510;643;635	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	F	635;643;554;510	ENSP00000311750:S635F;ENSP00000415203:S643F;ENSP00000424800:S554F;ENSP00000372494:S510F	ENSP00000311750:S635F	S	+	2	0	PIGG	507561	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.124000	0.15728	0.246000	0.21394	0.655000	0.94253	TCC	-	NULL		0.637	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	protein_coding	OTTHUMT00000357494.1	C	NM_017733	-		517561	1	no_errors	ENST00000453061	ensembl	human	known	74_37	missense	SNP	0.005	T	T	517561	C	T	517561	3	4	196	1	0	0	0	0	1	0	0	0	11890	855	30	2	1962	2	PIGG	4	517561	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	251700	517561	190636715	610	13882											
FGFR3	2261	genome.wustl.edu	37	chr4	1807115	1807115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccccttggggagggctgCttcggccaggtggtcatggc	17	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:1807115C>T	ENST00000260795.2	+	10	1548	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	FGFR3_ENST00000412135.2_Silent_p.C370C|FGFR3_ENST00000340107.4_Silent_p.C484C|FGFR3_ENST00000440486.2_Silent_p.C482C|FGFR3_ENST00000481110.2_Silent_p.C483C|FGFR3_ENST00000352904.1_Silent_p.C370C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGGAGGGCTGCTTCGGCCAGG	0.657		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0								ENSG00000068078						27	30	29					4																	1807115		2201	4300	6501	FGFR3	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	-	HGNC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1446C>T	4.37:g.1807115C>T		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C484	ENST00000260795.2	37	c.1452	CCDS3353.1	4																																																																																			-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.657	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	protein_coding	OTTHUMT00000241632.2	C	NM_000142	-		1807115	1	no_errors	ENST00000340107	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1807115	C	T	1807115	2	4	196	1	0	0	0	0	0	0	0	1	5869	805	28	2		2	FGFR3	4	1807115	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1289554	1807115	189347161	611	13883											
WHSC1	7468	genome.wustl.edu	37	chr4	1956939	1956939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctatcacagcggggatgCttgtctggcagcaggatgct	14	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:1956939C>T	ENST00000382895.3	+	15	2821	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.A797V|WHSC1_ENST00000382892.2_Missense_Mutation_p.A797V|WHSC1_ENST00000382888.3_Missense_Mutation_p.A145V|WHSC1_ENST00000382891.5_Missense_Mutation_p.A797V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	797					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGCGGGGATGCTTGTCTGGCA	0.572			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0								ENSG00000109685						136	111	119					4																	1956939		2203	4300	6503	WHSC1	SO:0001583	missense	0			-	HGNC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2390C>T	4.37:g.1956939C>T	ENSP00000372351:p.Ala797Val	Somatic	0	35	0		0.52429534266604	9	18.18	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.A797V	ENST00000382895.3	37	c.2390	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038638	0.19669	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.77	4.92	0.64577	.	0.236454	0.29522	N	0.011912	D	0.85961	0.5819	N	0.11255	0.115	0.22081	N	0.999374	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.70421	-0.4876	10	0.17369	T	0.5	.	11.0987	0.48161	0.0:0.7476:0.168:0.0844	.	145;797	A2A2T2;O96028	.;NSD2_HUMAN	V	797;797;797;797;145	ENSP00000423972:A797V;ENSP00000372347:A797V;ENSP00000372348:A797V;ENSP00000372351:A797V;ENSP00000372344:A145V	ENSP00000372344:A145V	A	+	2	0	WHSC1	1926737	0.001000	0.12720	0.931000	0.37212	0.690000	0.40134	0.778000	0.26732	2.732000	0.93576	0.655000	0.94253	GCT	-	NULL		0.572	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	protein_coding	OTTHUMT00000366269.2	C	NM_133330	-		1956939	1	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	SNP	0.092	T	T	1956939	C	T	1956939	3	4	196	1	0	0	0	0	1	0	0	0	17369	797	28	2	2512	2	WHSC1	4	1956939	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	149824	1956939	189197337	612	13884											
WHSC1	7468	genome.wustl.edu	37	chr4	1957789	1957789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgagattggagaattcCctgtgtttttctttgggtct	11	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:1957789C>T	ENST00000382895.3	+	17	3186	c.2755C>T	c.(2755-2757)Cct>Tct	p.P919S	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.P919S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P919S|WHSC1_ENST00000382888.3_Missense_Mutation_p.P267S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P919S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	919	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGAGAATTCCCTGTGTTTTT	0.473			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0								ENSG00000109685						150	176	167					4																	1957789		2203	4300	6503	WHSC1	SO:0001583	missense	0			-	HGNC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2755C>T	4.37:g.1957789C>T	ENSP00000372351:p.Pro919Ser	Somatic	0	44	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.00	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.P919S	ENST00000382895.3	37	c.2755	CCDS33940.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088548|5.088548	0.94100|0.94100	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000514329|ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	.|T;T;T;T;T	.|0.70631	.|-0.5;-0.5;-0.5;-0.5;-0.5	5.88|5.88	5.88|5.88	0.94601|0.94601	.|PWWP (3);	0.000000|0.000000	0.64402|0.64402	D|D	0.000020|0.000020	D|D	0.82458|0.82458	0.5041|0.5041	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.992;0.999	T|T	0.78242|0.78242	-0.2280|-0.2280	6|10	.|0.31617	.|T	.|0.26	.|.	20.2187|20.2187	0.98312|0.98312	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|267;919	.|A2A2T2;O96028	.|.;NSD2_HUMAN	L|S	242|919;919;919;919;267	.|ENSP00000423972:P919S;ENSP00000372347:P919S;ENSP00000372348:P919S;ENSP00000372351:P919S;ENSP00000372344:P267S	.|ENSP00000372344:P267S	P|P	+|+	2|1	0|0	WHSC1|WHSC1	1927587|1927587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.680000|7.680000	0.84062|0.84062	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CCC|CCT	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.473	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	protein_coding	OTTHUMT00000366269.2	C	NM_133330	-		1957789	1	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1957789	C	T	1957789	3	4	196	1	0	0	0	0	1	0	0	0	17369	623	22	2	2885	2	WHSC1	4	1957789	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	850	1957789	189196487	613	13885											
C4orf44	345222	genome.wustl.edu	37	chr4	3255061	3255061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggacagccagccgccgGggccctccacgtcccagacc	12	20	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:3255061G>A	ENST00000438480.2	+	2	2195	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	MSANTD1_ENST00000510580.1_Missense_Mutation_p.G150R|MSANTD1_ENST00000507492.1_Missense_Mutation_p.G137R	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	150										endometrium(1)|lung(2)	3						CCAGCCGCCGGGGCCCTCCAC	0.652																																																	0								ENSG00000188981						59	69	65					4																	3255061		2203	4300	6503	MSANTD1	SO:0001583	missense	0			-	HGNC		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.448G>A	4.37:g.3255061G>A	ENSP00000411584:p.Gly150Arg	Somatic	0	57	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	76	30.28	C9J6V0	Missense_Mutation	SNP							NULL	p.G150R	ENST00000438480.2	37	c.448	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.362879	0.95877	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	.	.	.	5.52	5.52	0.82312	.	0.135423	0.49916	D	0.000139	T	0.77212	0.4097	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77278	-0.2647	9	0.54805	T	0.06	.	18.4326	0.90632	0.0:0.0:1.0:0.0	.	150;150	D6RD98;Q6ZTZ1	.;CD044_HUMAN	R	137;150;150	.	ENSP00000411584:G150R	G	+	1	0	C4orf44	3224859	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.803000	0.91915	2.615000	0.88500	0.591000	0.81541	GGG	-	NULL		0.652	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	protein_coding	OTTHUMT00000370924.1	G	NM_001012982	-		3255061	1	no_errors	ENST00000438480	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3255061	G	A	3255061	3	1	196	1	0	0	0	0	1	0	0	0	2274	1232	43	2	454	2	C4orf44	4	3255061	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1297272	3255061	187899215	614	13886											
RGS12	6002	genome.wustl.edu	37	chr4	3319035	3319035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaattcccggcgtcctccCtccccgtcctgcagttcatc	8	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:3319035C>T	ENST00000344733.5	+	2	2042	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	RGS12_ENST00000382788.3_Missense_Mutation_p.L380F|RGS12_ENST00000336727.3_Missense_Mutation_p.L380F|RGS12_ENST00000543385.1_Missense_Mutation_p.L380F	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	380					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGTCCTCCCTCCCCGTCCT	0.607																																																	0								ENSG00000159788						72	68	70					4																	3319035		2203	4300	6503	RGS12	SO:0001583	missense	0			-	HGNC	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1138C>T	4.37:g.3319035C>T	ENSP00000339381:p.Leu380Phe	Somatic	0	39	0		0.52429534266604	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP							pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.L380F	ENST00000344733.5	37	c.1138	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764888	0.31228	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.32023	1.47;1.58;1.58;1.58	4.73	3.66	0.41972	.	0.150652	0.44285	D	0.000478	T	0.38719	0.1051	M	0.72118	2.19	0.19300	N	0.999972	P;P;P	0.50443	0.82;0.893;0.935	P;B;P	0.49502	0.491;0.387;0.613	T	0.28933	-1.0028	10	0.59425	D	0.04	-27.8373	8.8305	0.35080	0.0:0.7539:0.0:0.2461	.	380;380;380	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	F	380	ENSP00000440566:L380F;ENSP00000339381:L380F;ENSP00000338509:L380F;ENSP00000372238:L380F	ENSP00000338509:L380F	L	+	1	0	RGS12	3288833	0.902000	0.30710	0.033000	0.17914	0.964000	0.63967	1.937000	0.40193	2.171000	0.68590	0.491000	0.48974	CTC	-	NULL		0.607	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	protein_coding	OTTHUMT00000206602.1	C	NM_002926	-		3319035	1	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	SNP	0.013	T	T	3319035	C	T	3319035	3	4	196	1	0	0	0	0	1	0	0	0	13303	681	24	2	1140	2	RGS12	4	3319035	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	63974	3319035	187835241	615	13887											
ADRA2C	152	genome.wustl.edu	37	chr4	3769700	3769700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcctcttccgacggaGgagaaggggcttcaggcagt	14	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:3769700G>A	ENST00000330055.5	+	1	1576	c.1367G>A	c.(1366-1368)aGg>aAg	p.R456K	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	456					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCCGACGGAGGAGAAGGGGC	0.622																																					Esophageal Squamous(12;454 628 4517 14479)												0								ENSG00000184160						21	25	23					4																	3769700		2091	4222	6313	ADRA2C	SO:0001583	missense	0			-	HGNC	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1367G>A	4.37:g.3769700G>A	ENSP00000386069:p.Arg456Lys	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	46	29.23	P35369|Q9HB49	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R456K	ENST00000330055.5	37	c.1367	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460231	0.12342	.	.	ENSG00000184160	ENST00000330055	T	0.35236	1.32	3.93	2.97	0.34412	.	.	.	.	.	T	0.22399	0.0540	N	0.26042	0.785	0.28095	N	0.931643	B	0.06786	0.001	B	0.04013	0.001	T	0.09185	-1.0686	9	0.23891	T	0.37	.	6.6747	0.23087	0.1955:0.0:0.8045:0.0	.	456	P18825	ADA2C_HUMAN	K	456	ENSP00000386069:R456K	ENSP00000386069:R456K	R	+	2	0	ADRA2C	3739498	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.470000	0.53100	2.003000	0.58678	0.655000	0.94253	AGG	-	prints_ADRA2C_rcpt		0.622	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	protein_coding	OTTHUMT00000357607.1	G	NM_000683	-		3769700	1	no_errors	ENST00000330055	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3769700	G	A	3769700	3	1	196	1	0	0	0	0	1	0	0	0	339	1000	35	2	1369	2	ADRA2C	4	3769700	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	450665	3769700	187384576	616	13888											
SORCS2	57537	genome.wustl.edu	37	chr4	7728597	7728597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgcctgtgggaactcgGtgctgcaggactccagggtc	16	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:7728597G>A	ENST00000507866.2	+	21	2945	c.2836G>A	c.(2836-2838)Gtg>Atg	p.V946M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V774M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	946					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGAACTCGGTGCTGCAGGA	0.637																																																	0								ENSG00000184985						76	92	87					4																	7728597		2126	4203	6329	SORCS2	SO:0001583	missense	0			-	HGNC	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2836G>A	4.37:g.7728597G>A	ENSP00000422185:p.Val946Met	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	36.67	Q9P2L7	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.V946M	ENST00000507866.2	37	c.2836	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	2.864	-0.235392	0.05983	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.15139	2.45;2.45	4.25	3.1	0.35709	.	0.181255	0.44483	D	0.000442	T	0.08802	0.0218	N	0.24115	0.695	0.25142	N	0.990499	B;B	0.16396	0.005;0.017	B;B	0.13407	0.006;0.009	T	0.15694	-1.0428	10	0.27785	T	0.31	.	3.2913	0.06950	0.4429:0.0:0.557:0.0	.	774;946	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	946;774	ENSP00000422185:V946M;ENSP00000329124:V774M	ENSP00000329124:V774M	V	+	1	0	SORCS2	7779497	1.000000	0.71417	0.914000	0.36105	0.068000	0.16541	4.814000	0.62627	2.090000	0.63153	0.454000	0.30748	GTG	-	superfamily_PKD_dom		0.637	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	protein_coding	OTTHUMT00000358685.4	G	NM_020777	-		7728597	1	no_errors	ENST00000507866	ensembl	human	known	74_37	missense	SNP	0.950	A	A	7728597	G	A	7728597	3	1	196	1	0	0	0	0	1	0	0	0	14939	1261	44	2	2918	2	SORCS2	4	7728597	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3958897	7728597	183425679	617	13889											
SH3TC1	54436	genome.wustl.edu	37	chr4	8221204	8221204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacacgcagcctcgggCcgggtggggtttgtgcggag	20	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:8221204C>T	ENST00000245105.3	+	9	1126	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	SH3TC1_ENST00000539824.1_Silent_p.G277G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	353	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCTCGGGCCGGGTGGGGT	0.687																																					NSCLC(145;2298 2623 35616 37297)												0								ENSG00000125089						25	29	28					4																	8221204		2200	4298	6498	SH3TC1	SO:0001819	synonymous_variant	0			-	HGNC	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1059C>T	4.37:g.8221204C>T		Somatic	0	123	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	121	40.98	Q4W5G5	Silent	SNP							superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.G353	ENST00000245105.3	37	c.1059	CCDS3399.1	4																																																																																			-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.687	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	C	NM_018986	-		8221204	1	no_errors	ENST00000245105	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8221204	C	T	8221204	2	4	196	1	0	0	0	0	0	0	0	1	14269	726	26	2		2	SH3TC1	4	8221204	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	492607	8221204	182933072	618	13890											
GPR78	27201	genome.wustl.edu	37	chr4	8588896	8588896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtactctctgctccgccggCcgttccgccaagtcctggcc	10	19	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:8588896C>T	ENST00000382487.4	+	3	1315	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S	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						GCTCCGCCGGCCGTTCCGCCA	0.662																																																	0								ENSG00000155269						39	41	41					4																	8588896		2203	4297	6500	GPR78	SO:0001583	missense	0			-	HGNC	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.898C>T	4.37:g.8588896C>T	ENSP00000371927:p.Pro300Ser	Somatic	0	109	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	122	40.20	Q8NGV3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P300S	ENST00000382487.4	37	c.898	CCDS3403.1	4	.	.	.	.	.	.	.	.	.	.	C	4.480	0.088937	0.08583	.	.	ENSG00000155269	ENST00000382487	T	0.36340	1.26	3.25	1.39	0.22231	.	0.257080	0.32231	N	0.006400	T	0.17408	0.0418	N	0.08118	0	0.20873	N	0.999837	B	0.02656	0.0	B	0.01281	0.0	T	0.15549	-1.0433	10	0.37606	T	0.19	.	9.4467	0.38701	0.0:0.7612:0.1453:0.0935	.	300	Q96P69	GPR78_HUMAN	S	300	ENSP00000371927:P300S	ENSP00000371927:P300S	P	+	1	0	GPR78	8639796	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.361000	0.44160	-0.402000	0.07633	-0.797000	0.03246	CCG	-	prints_GPCR_Rhodpsn		0.662	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	protein_coding	OTTHUMT00000359201.1	C		-		8588896	1	no_errors	ENST00000382487	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8588896	C	T	8588896	3	4	196	1	0	0	0	0	1	0	0	0	6712	739	26	2	908	2	GPR78	4	8588896	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	367692	8588896	182565380	619	13891											
SLC2A9	56606	genome.wustl.edu	37	chr4	9889256	9889256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaggtaggggacccagGgggcgtggtcctgggagaga	19	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:9889256G>A	ENST00000264784.3	-	10	1279	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	SLC2A9_ENST00000506583.1_Missense_Mutation_p.P380L|SLC2A9_ENST00000309065.3_Missense_Mutation_p.P380L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	409					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)	GGGGACCCAGGGGGCGTGGTC	0.642																																																	0								ENSG00000109667						78	75	76					4																	9889256		2201	4296	6497	SLC2A9	SO:0001583	missense	0			-	HGNC	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.1226C>T	4.37:g.9889256G>A	ENSP00000264784:p.Pro409Leu	Somatic	0	71	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	81	24.30	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.P409L	ENST00000264784.3	37	c.1226	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	G	5.789	0.329905	0.10956	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.74002	-0.8;-0.8;-0.8	5.08	2.42	0.29668	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.380247	0.30401	N	0.009711	T	0.73497	0.3594	M	0.75615	2.305	0.32590	N	0.527343	B;B	0.24043	0.078;0.096	B;B	0.37091	0.155;0.241	T	0.73357	-0.4008	10	0.66056	D	0.02	.	4.8418	0.13494	0.1806:0.0:0.6496:0.1698	.	380;409	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	L	380;409;380	ENSP00000422209:P380L;ENSP00000264784:P409L;ENSP00000311383:P380L	ENSP00000264784:P409L	P	-	2	0	SLC2A9	9498354	0.869000	0.29996	0.370000	0.25965	0.141000	0.21300	1.009000	0.29886	0.267000	0.21916	-1.401000	0.01141	CCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.642	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	protein_coding	OTTHUMT00000207055.1	G		-		9889256	-1	no_errors	ENST00000264784	ensembl	human	known	74_37	missense	SNP	0.653	A	A	9889256	G	A	9889256	3	1	196	1	0	0	0	0	1	0	0	0	14560	1232	43	2	408	2	SLC2A9	4	9889256	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1300360	9889256	181265020	620	13892											
BST1	683	genome.wustl.edu	37	chr4	15716984	15716984	+	Splice_Site	SNP	G	G	A													aggagcctatcccatcaaagGgtaagaacaccagcacattc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:15716984G>A	ENST00000265016.4	+	5	806	c.611G>A	c.(610-612)gGt>gAt	p.G204D	BST1_ENST00000382346.3_Splice_Site_p.G219D	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	204					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CCCATCAAAGGGTAAGAACAC	0.388																																																	0								ENSG00000109743						104	97	99					4																	15716984		2203	4300	6503	BST1	SO:0001630	splice_region_variant	0			-	HGNC	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.611+1G>A	4.37:g.15716984G>A		Somatic	0	83	0		0.52429534266604	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	61	40.78	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP							pfam_ADP-ribosyl_cyclase	p.G204D	ENST00000265016.4	37	c.611	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.389121|4.389121	0.82902|0.82902	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445|ENST00000505785;ENST00000514989	T;T;T|.	0.15139|.	2.45;2.45;2.45|.	6.16|6.16	6.16|6.16	0.99307|0.99307	NAD(P)-binding domain (1);|.	0.049240|.	0.85682|.	D|.	0.000000|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.67953|0.67953	2.075|2.075	0.47949|0.47949	D|D	0.999551|0.999551	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.976|.	T|T	0.70995|0.70995	-0.4720|-0.4720	10|5	0.48119|.	T|.	0.1|.	-13.6785|-13.6785	16.3599|16.3599	0.83257|0.83257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	219;204|.	A6NC48;Q10588|.	.;BST1_HUMAN|.	D|I	204;219;54|100;12	ENSP00000265016:G204D;ENSP00000371783:G219D;ENSP00000420925:G54D|.	ENSP00000265016:G204D|.	G|V	+|+	2|1	0|0	BST1|BST1	15326082|15326082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	5.218000|5.218000	0.65257|0.65257	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|GTT	-	pfam_ADP-ribosyl_cyclase		0.388	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	protein_coding	OTTHUMT00000214968.2	G	NM_004334	-	Missense_Mutation	15716984	1	no_errors	ENST00000265016	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15716984	G	A	15716984	5	1	196	1	0	0	0	0	0	0	1	0	1535	1246	43	2	629	2	BST1	4	15716984	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5827728	15716984	175437292	621	13893	258	2									
BST1	683	genome.wustl.edu	37	chr4	15716985	15716985	+	Splice_Site	SNP	G	G	A													ggagcctatcccatcaaaggGtaagaacaccagcacattca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:15716985G>A	ENST00000265016.4	+	5	806		c.e5+1		BST1_ENST00000382346.3_Splice_Site	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CCATCAAAGGGTAAGAACACC	0.388																																																	0								ENSG00000109743						104	97	99					4																	15716985		2203	4300	6503	BST1	SO:0001630	splice_region_variant	0			-	HGNC	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.611+1G>A	4.37:g.15716985G>A		Somatic	0	81	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	61	40.78	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Splice_Site	SNP							-	e5+1	ENST00000265016.4	37	c.611+1	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510192	0.64522	.	.	ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000505785;ENST00000514445;ENST00000514989	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3599	0.83257	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BST1	15326083	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.218000	0.65257	2.937000	0.99478	0.650000	0.86243	.	-	-		0.388	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	protein_coding	OTTHUMT00000214968.2	G	NM_004334	-	Intron	15716985	1	no_errors	ENST00000265016	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	15716985	G	A	15716985	5	1	196	1	0	0	0	0	0	0	1	0	1535	1275	44	2	630	2	BST1	4	15716985	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	15716985	175437291	622	13894	258	2									
LAP3	51056	genome.wustl.edu	37	chr4	17600148	17600148	+	Missense_Mutation	SNP	C	C	T													gttacgcacacacgtttaacCcgaaggtcatcctcaatgcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:17600148C>T	ENST00000226299.4	+	10	1421	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S	LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.P352S|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	383					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CACGTTTAACCCGAAGGTCAT	0.498																																																	0								ENSG00000002549						204	154	171					4																	17600148		2203	4300	6503	LAP3	SO:0001583	missense	0			-	HGNC	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1147C>T	4.37:g.17600148C>T	ENSP00000226299:p.Pro383Ser	Somatic	0	55	0		0.52429534266604	143	34.1	74	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	31	44.64	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP							pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.P383S	ENST00000226299.4	37	c.1147	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775672	0.49786	.	.	ENSG00000002549	ENST00000226299	T	0.46451	0.87	5.05	5.05	0.67936	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.049642	0.85682	D	0.000000	T	0.73102	0.3544	H	0.96080	3.765	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.80973	-0.1143	10	0.87932	D	0	-15.4748	11.7708	0.51958	0.1363:0.7321:0.1316:0.0	.	383	P28838	AMPL_HUMAN	S	383	ENSP00000226299:P383S	ENSP00000226299:P383S	P	+	1	0	LAP3	17209246	1.000000	0.71417	0.621000	0.29145	0.053000	0.15095	3.799000	0.55529	2.485000	0.83878	0.563000	0.77884	CCG	-	pfam_Peptidase_M17_C		0.498	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	protein_coding	OTTHUMT00000250365.1	C		-		17600148	1	no_errors	ENST00000226299	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17600148	C	T	17600148	3	4	196	1	0	0	0	0	1	0	0	0	8625	623	22	2	1185	2	LAP3	4	17600148	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1883163	17600148	173554128	623	13895	259	2									
LAP3	51056	genome.wustl.edu	37	chr4	17600149	17600149	+	Missense_Mutation	SNP	C	C	T													ttacgcacacacgtttaaccCgaaggtcatcctcaatgccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:17600149C>T	ENST00000226299.4	+	10	1422	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.P352L|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	383					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGTTTAACCCGAAGGTCATC	0.498																																																	0								ENSG00000002549						201	152	169					4																	17600149		2203	4300	6503	LAP3	SO:0001583	missense	0			-	HGNC	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1148C>T	4.37:g.17600149C>T	ENSP00000226299:p.Pro383Leu	Somatic	0	54	0		0.52429534266604	144	33.94	74	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	43.64	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP							pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.P383L	ENST00000226299.4	37	c.1148	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664208	0.67700	.	.	ENSG00000002549	ENST00000226299	T	0.47528	0.84	5.05	5.05	0.67936	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.049642	0.85682	D	0.000000	T	0.81730	0.4884	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89390	0.3688	10	0.87932	D	0	-15.4748	18.7729	0.91899	0.0:1.0:0.0:0.0	.	383	P28838	AMPL_HUMAN	L	383	ENSP00000226299:P383L	ENSP00000226299:P383L	P	+	2	0	LAP3	17209247	1.000000	0.71417	0.594000	0.28785	0.060000	0.15804	7.304000	0.78882	2.485000	0.83878	0.563000	0.77884	CCG	-	pfam_Peptidase_M17_C		0.498	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	protein_coding	OTTHUMT00000250365.1	C		-		17600149	1	no_errors	ENST00000226299	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17600149	C	T	17600149	3	4	196	1	0	0	0	0	1	0	0	0	8625	652	23	1	1186	1	LAP3	4	17600149	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	17600149	173554127	624	13896	259	2									
SLIT2	9353	genome.wustl.edu	37	chr4	20544139	20544139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgacaatagttgctcCccactttctcgctgtcctac	6	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:20544139C>T	ENST00000504154.1	+	21	2418	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S	SLIT2_ENST00000503837.1_Silent_p.S718S|SLIT2_ENST00000503823.1_Silent_p.S714S|SLIT2_ENST00000273739.5_Silent_p.S726S|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	722	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATAGTTGCTCCCCACTTTCTC	0.423																																																	0								ENSG00000145147						324	296	305					4																	20544139		2203	4300	6503	SLIT2	SO:0001819	synonymous_variant	0			-	HGNC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2166C>T	4.37:g.20544139C>T		Somatic	0	90	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	85	34.11	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S722	ENST00000504154.1	37	c.2166	CCDS3426.1	4																																																																																			-	NULL		0.423	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	C		-		20544139	1	no_errors	ENST00000504154	ensembl	human	known	74_37	silent	SNP	0.822	T	T	20544139	C	T	20544139	2	4	196	1	0	0	0	0	0	0	0	1	14748	610	22	2		2	SLIT2	4	20544139	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2943990	20544139	170610137	625	13897											
GPR125	166647	genome.wustl.edu	37	chr4	22394264	22394264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatatttcgagctgtcactCctacccatagtactgtggca	8	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:22394264C>T	ENST00000334304.5	-	17	2800	c.2531G>A	c.(2530-2532)gGa>gAa	p.G844E	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	844					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)				AGCTGTCACTCCTACCCATAG	0.393																																																	0								ENSG00000152990						205	184	191					4																	22394264		2203	4300	6503	GPR125	SO:0001583	missense	0			-	HGNC	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.2531G>A	4.37:g.22394264C>T	ENSP00000334952:p.Gly844Glu	Somatic	0	81	0		0.52429534266604	4	75	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	89	22.61	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G844E	ENST00000334304.5	37	c.2531	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802070	0.90538	.	.	ENSG00000152990	ENST00000334304	D	0.97731	-4.51	5.18	5.18	0.71444	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.99790	1.1031	10	0.72032	D	0.01	-22.4656	19.0429	0.93008	0.0:1.0:0.0:0.0	.	701;844	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	E	844	ENSP00000334952:G844E	ENSP00000334952:G844E	G	-	2	0	GPR125	22003362	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.563000	0.60823	2.584000	0.87258	0.561000	0.74099	GGA	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.393	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	C		-		22394264	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22394264	C	T	22394264	3	4	196	1	0	0	0	0	1	0	0	0	6641	855	30	2	1446	2	GPR125	4	22394264	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1850125	22394264	168760012	626	13898											
CCKAR	886	genome.wustl.edu	37	chr4	26483651	26483651	+	Frame_Shift_Del	DEL	T	T	-													tcaggttggctgcggagctgTtactccggatgcggttggcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:26483651delT	ENST00000295589.3	-	5	1090	c.896delA	c.(895-897)aacfs	p.N299fs		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	299					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCGGAGCTGTTACTCCGGAT	0.612																																																	0								ENSG00000163394						99	87	91					4																	26483651		2203	4300	6503	CCKAR	SO:0001589	frameshift_variant	0				HGNC	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.896delA	4.37:g.26483651delT	ENSP00000295589:p.Asn299fs	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	B2R9Z5	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.N299fs	ENST00000295589.3	37	c.896	CCDS3438.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	protein_coding	OTTHUMT00000250418.2	T				26483651	-1	no_errors	ENST00000295589	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	26483651	T	-	26483651	7	5	196	1	0	1	0	1	0	0	0	0	2882	1725	60	0	394	0	CCKAR	4	26483651	Frame_Shift_Del	DEL	T	TCGA-QC-A7B5-01A-11D-A33E-09	4089387	26483651	164670625	627	13899											
ARAP2	116984	genome.wustl.edu	37	chr4	36134863	36134863	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttaccatactgtgtaacaaAtgctatacagctgttcacta	5	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:36134863A>T	ENST00000303965.4	-	20	3901	c.3412T>A	c.(3412-3414)Ttt>Att	p.F1138I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1138	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						TGTGTAACAAATGCTATACAG	0.373																																																	0								ENSG00000047365						133	115	121					4																	36134863		2201	4299	6500	ARAP2	SO:0001583	missense	0			-	HGNC	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.3412T>A	4.37:g.36134863A>T	ENSP00000302895:p.Phe1138Ile	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	64	31.18	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.F1138I	ENST00000303965.4	37	c.3412	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	29.0	4.969460	0.92855	.	.	ENSG00000047365	ENST00000303965	T	0.22539	1.95	5.81	5.81	0.92471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22977	-1.0201	10	0.87932	D	0	.	16.1667	0.81768	1.0:0.0:0.0:0.0	.	1138	Q8WZ64	ARAP2_HUMAN	I	1138	ENSP00000302895:F1138I	ENSP00000302895:F1138I	F	-	1	0	ARAP2	35811258	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.923000	0.92808	2.210000	0.71456	0.533000	0.62120	TTT	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.373	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	A	NM_015230	-		36134863	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36134863	A	T	36134863	3	4	196	1	0	0	0	0	1	0	0	0	839	101	4	5	1758	5	ARAP2	4	36134863	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	9651212	36134863	155019413	628	13900											
C4orf19	55286	genome.wustl.edu	37	chr4	37592333	37592333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggatgaatccctagaggGaattcagcccccagtggggg	15	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:37592333G>A	ENST00000284437.6	+	3	834	c.656G>A	c.(655-657)gGa>gAa	p.G219E	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.G219E|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	219								p.G219E(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						TCCCTAGAGGGAATTCAGCCC	0.478																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000154274						54	55	55					4																	37592333		2203	4300	6503	C4orf19	SO:0001583	missense	0			-	HGNC	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.656G>A	4.37:g.37592333G>A	ENSP00000284437:p.Gly219Glu	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q9NV03	Missense_Mutation	SNP							NULL	p.G219E	ENST00000284437.6	37	c.656	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	G	7.528	0.658076	0.14645	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.30182	1.54;1.54	4.78	-2.84	0.05751	.	1.014910	0.07877	N	0.969019	T	0.24005	0.0581	L	0.42245	1.32	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30001	-0.9993	10	0.45353	T	0.12	-0.8167	8.4068	0.32619	0.641:0.0:0.2394:0.1196	.	219	Q8IY42	CD019_HUMAN	E	219	ENSP00000371408:G219E;ENSP00000284437:G219E	ENSP00000284437:G219E	G	+	2	0	C4orf19	37268728	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.236000	0.09003	-0.841000	0.04200	-0.218000	0.12543	GGA	-	NULL		0.478	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	protein_coding	OTTHUMT00000250432.1	G	NM_018302	-		37592333	1	no_errors	ENST00000284437	ensembl	human	known	74_37	missense	SNP	0.000	A	A	37592333	G	A	37592333	3	1	196	1	0	0	0	0	1	0	0	0	2255	1174	41	2	662	2	C4orf19	4	37592333	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1457470	37592333	153561943	629	13901											
KLHL5	51088	genome.wustl.edu	37	chr4	39116813	39116813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacatgtggactgcagtaGcatccatgagcatcagcaga	11	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:39116813G>A	ENST00000504108.1	+	10	2357	c.2074G>A	c.(2074-2076)Gca>Aca	p.A692T	RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000381930.3_Missense_Mutation_p.A692T|KLHL5_ENST00000261425.3_Missense_Mutation_p.A646T|KLHL5_ENST00000359687.2_Missense_Mutation_p.A692T|KLHL5_ENST00000261426.5_Missense_Mutation_p.A631T|KLHL5_ENST00000508137.2_Missense_Mutation_p.A505T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	692						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						GACTGCAGTAGCATCCATGAG	0.388																																																	0								ENSG00000109790						98	90	92					4																	39116813		2203	4300	6503	KLHL5	SO:0001583	missense	0			-	HGNC	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.2074G>A	4.37:g.39116813G>A	ENSP00000423897:p.Ala692Thr	Somatic	0	55	0		0.52429534266604	48	46.15	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	46	41.77	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A692T	ENST00000504108.1	37	c.2074	CCDS33974.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.669826|5.669826	0.96754|0.96754	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147|ENST00000515612	T;T;T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Kelch-type beta propeller (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P;P|.	0.50156|.	0.575;0.893;0.932|.	B;P;P|.	0.53689|.	0.305;0.732;0.612|.	T|T	0.64110|0.64110	-0.6484|-0.6484	10|5	0.59425|.	D|.	0.04|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	631;692;692|.	F8WAE7;Q96PQ7;Q96PQ7-2|.	.;KLHL5_HUMAN;.|.	T|N	726;646;505;692;692;692;631;286|203	ENSP00000261425:A646T;ENSP00000423080:A505T;ENSP00000423897:A692T;ENSP00000352716:A692T;ENSP00000371355:A692T;ENSP00000261426:A631T|.	ENSP00000261425:A646T|.	A|S	+|+	1|2	0|0	KLHL5|KLHL5	38793208|38793208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.768000|7.768000	0.85345|0.85345	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	pfam_Kelch_1,smart_Kelch_1		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	protein_coding	OTTHUMT00000360604.1	G		-		39116813	1	no_errors	ENST00000359687	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39116813	G	A	39116813	3	1	196	1	0	0	0	0	1	0	0	0	8394	971	34	2	2112	2	KLHL5	4	39116813	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1524480	39116813	152037463	630	13902											
UGDH	7358	genome.wustl.edu	37	chr4	39515778	39515778	+	Silent	SNP	G	G	A													aaaagattttttcctcgacaGgattctaccacttcttttag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:39515778G>A	ENST00000316423.6	-	3	531	c.189C>T	c.(187-189)tcC>tcT	p.S63S	UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Silent_p.S63S|UGDH_ENST00000501493.2_Silent_p.S63S	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	63					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTCCTCGACAGGATTCTACCA	0.308																																																	0								ENSG00000109814						53	65	61					4																	39515778		2196	4288	6484	UGDH	SO:0001819	synonymous_variant	0			-	HGNC	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.189C>T	4.37:g.39515778G>A		Somatic	0	79	0		0.52429534266604	9	30.77	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	79	33.61	B3KUU2|B4DN25|O60589	Silent	SNP							pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.S63	ENST00000316423.6	37	c.189	CCDS3455.1	4																																																																																			-	pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man		0.308	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	protein_coding	OTTHUMT00000216818.3	G	NM_003359	-		39515778	-1	no_errors	ENST00000316423	ensembl	human	known	74_37	silent	SNP	0.992	A	A	39515778	G	A	39515778	2	1	196	1	0	0	0	0	0	0	0	1	16947	987	35	2		2	UGDH	4	39515778	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	398965	39515778	151638498	631	13903	260	2									
UGDH	7358	genome.wustl.edu	37	chr4	39515779	39515779	+	Missense_Mutation	SNP	G	G	A													aaagattttttcctcgacagGattctaccacttcttttagt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:39515779G>A	ENST00000316423.6	-	3	530	c.188C>T	c.(187-189)tCc>tTc	p.S63F	UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Missense_Mutation_p.S63F|UGDH_ENST00000501493.2_Missense_Mutation_p.S63F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	63					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TCCTCGACAGGATTCTACCAC	0.313																																																	0								ENSG00000109814						53	65	61					4																	39515779		2197	4288	6485	UGDH	SO:0001583	missense	0			-	HGNC	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.188C>T	4.37:g.39515779G>A	ENSP00000319501:p.Ser63Phe	Somatic	0	80	0		0.52429534266604	7	33.33	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	80	33.33	B3KUU2|B4DN25|O60589	Missense_Mutation	SNP							pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.S63F	ENST00000316423.6	37	c.188	CCDS3455.1	4	.	.	.	.	.	.	.	.	.	.	G	19.15	3.770924	0.69992	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698	T;T;T;T;T;T;T	0.77877	-1.13;-1.11;-1.13;-1.13;-1.13;-1.13;-1.13	5.66	5.66	0.87406	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.051171	0.85682	D	0.000000	T	0.78947	0.4364	L	0.57536	1.79	0.80722	D	1	B;B	0.26975	0.165;0.017	B;B	0.33568	0.166;0.032	T	0.76623	-0.2891	10	0.56958	D	0.05	-10.1498	18.7386	0.91765	0.0:0.0:1.0:0.0	.	63;63	B3KUU2;O60701	.;UGDH_HUMAN	F	63;63;63;76;63;63;63	ENSP00000319501:S63F;ENSP00000422909:S63F;ENSP00000421757:S63F;ENSP00000421954:S76F;ENSP00000425834:S63F;ENSP00000422603:S63F;ENSP00000422565:S63F	ENSP00000319501:S63F	S	-	2	0	UGDH	39192174	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.732000	0.91534	2.660000	0.90430	0.555000	0.69702	TCC	-	pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man		0.313	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	protein_coding	OTTHUMT00000216818.3	G	NM_003359	-		39515779	-1	no_errors	ENST00000316423	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39515779	G	A	39515779	3	1	196	1	0	0	0	0	1	0	0	0	16947	1174	41	2	1336	2	UGDH	4	39515779	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	39515779	151638497	632	13904	260	2									
CHRNA9	55584	genome.wustl.edu	37	chr4	40337493	40337493	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaaaaagatgaactgGtcccattcctgcatctcctt	7	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:40337493G>A	ENST00000310169.2	+	1	148	c.9G>A	c.(7-9)tgG>tgA	p.W3*		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	3					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGATGAACTGGTCCCATTCCT	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0								ENSG00000174343						153	133	140					4																	40337493		2203	4300	6503	CHRNA9	SO:0001587	stop_gained	0			-	HGNC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.9G>A	4.37:g.40337493G>A	ENSP00000312663:p.Trp3*	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	33	41.07	Q14CY7|Q4W5A2|Q9NYV2	Nonsense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.W3*	ENST00000310169.2	37	c.9	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.660830	0.96734	.	.	ENSG00000174343	ENST00000310169	.	.	.	5.36	5.36	0.76844	.	0.695762	0.14083	N	0.342530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.4541	0.67404	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000312663:W3X	W	+	3	0	CHRNA9	40032250	1.000000	0.71417	0.995000	0.50966	0.469000	0.32828	4.172000	0.58243	2.797000	0.96272	0.561000	0.74099	TGG	-	NULL		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	protein_coding	OTTHUMT00000216822.1	G		-		40337493	1	no_errors	ENST00000310169	ensembl	human	known	74_37	nonsense	SNP	0.999	A	A	40337493	G	A	40337493	4	1	196	1	0	0	0	0	0	1	0	0	3391	1270	44	2	11	2	CHRNA9	4	40337493	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	821714	40337493	150816783	633	13905											
BEND4	389206	genome.wustl.edu	37	chr4	42122234	42122234	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggagccgtctcccatctttCtttgaagaatttacagcctc	7	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:42122234C>T	ENST00000502486.1	-	5	1803	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	BEND4_ENST00000504360.1_Silent_p.K404K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	408	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCCATCTTTCTTTGAAGAAT	0.443																																																	0								ENSG00000188848						114	115	115					4																	42122234		1923	4137	6060	BEND4	SO:0001819	synonymous_variant	0			-	HGNC	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1224G>A	4.37:g.42122234C>T		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP							pfam_BEN_domain	p.K408	ENST00000502486.1	37	c.1224	CCDS47048.1	4																																																																																			-	NULL		0.443	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	protein_coding	OTTHUMT00000360975.2	C	NM_207406	-		42122234	-1	no_errors	ENST00000502486	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42122234	C	T	42122234	2	4	196	1	0	0	0	0	0	0	0	1	1400	912	32	2		2	BEND4	4	42122234	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1784741	42122234	149032042	634	13906											
KCTD8	386617	genome.wustl.edu	37	chr4	44176909	44176909	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatcctgaatacactttttCatttcttcttccacacttag	2	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:44176909C>T	ENST00000360029.3	-	2	1603	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	440					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACACTTTTTCATTTCTTCTT	0.398										HNSCC(17;0.042)																																							0								ENSG00000183783						155	163	160					4																	44176909		2203	4300	6503	KCTD8	SO:0001583	missense	0			-	HGNC	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1320G>A	4.37:g.44176909C>T	ENSP00000353129:p.Met440Ile	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	29.58	A2RU39	Missense_Mutation	SNP							pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.M440I	ENST00000360029.3	37	c.1320	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602398	0.28534	.	.	ENSG00000183783	ENST00000360029	T	0.37752	1.18	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000011	T	0.26048	0.0635	N	0.19112	0.55	0.38216	D	0.940623	B	0.31837	0.342	B	0.26094	0.066	T	0.27706	-1.0066	10	0.72032	D	0.01	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	440	Q6ZWB6	KCTD8_HUMAN	I	440	ENSP00000353129:M440I	ENSP00000353129:M440I	M	-	3	0	KCTD8	43871666	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	5.409000	0.66374	2.553000	0.86117	0.557000	0.71058	ATG	-	NULL		0.398	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	protein_coding	OTTHUMT00000216868.1	C		-		44176909	-1	no_errors	ENST00000360029	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44176909	C	T	44176909	3	4	196	1	0	0	0	0	1	0	0	0	8117	826	29	2	105	2	KCTD8	4	44176909	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2054675	44176909	146977367	635	13907											
CNGA1	1259	genome.wustl.edu	37	chr4	47938975	47938975	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataatgtacatctctcgtccGatatcccctttcttgcaaat	4	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:47938975G>A	ENST00000514170.1	-	11	1855	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	CNGA1_ENST00000402813.3_Silent_p.I581I|CNGA1_ENST00000420489.2_Silent_p.I512I|CNGA1_ENST00000544810.1_Silent_p.I512I|CNGA1_ENST00000358519.4_Silent_p.I512I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	512					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTCTCGTCCGATATCCCCTT	0.463																																																	0								ENSG00000198515						109	110	109					4																	47938975		2140	4278	6418	CNGA1	SO:0001819	synonymous_variant	0			-	HGNC	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1536C>T	4.37:g.47938975G>A		Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.I581	ENST00000514170.1	37	c.1743	CCDS43226.1	4																																																																																			-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	protein_coding	OTTHUMT00000372070.2	G	NM_000087	-		47938975	-1	no_errors	ENST00000402813	ensembl	human	known	74_37	silent	SNP	0.993	A	A	47938975	G	A	47938975	2	1	196	1	0	0	0	0	0	0	0	1	3598	1048	37	1		1	CNGA1	4	47938975	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3762066	47938975	143215301	636	13908											
PDGFRA	5156	genome.wustl.edu	37	chr4	55138666	55138666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgatattgagtggaTgatatgcaaagatattaaga	10	4	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:55138666T>G	ENST00000257290.5	+	9	1674	c.1343T>G	c.(1342-1344)aTg>aGg	p.M448R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	448	Ig-like C2-type 5.				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)			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)	ATTGAGTGGATGATATGCAAA	0.433			"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)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0								ENSG00000134853						145	135	138					4																	55138666		2203	4300	6503	PDGFRA	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	-	HGNC	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.1343T>G	4.37:g.55138666T>G	ENSP00000257290:p.Met448Arg	Somatic	0	35	0		0.52429534266604	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	40	25.93	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.M448R	ENST00000257290.5	37	c.1343	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192270	0.21954	.	.	ENSG00000134853	ENST00000257290	T	0.74947	-0.89	6.17	4.97	0.65823	Immunoglobulin-like fold (1);	0.000000	0.38605	U	0.001635	T	0.60011	0.2236	L	0.29908	0.895	0.80722	D	1	B;P	0.35982	0.01;0.531	B;B	0.25987	0.022;0.065	T	0.60677	-0.7216	10	0.51188	T	0.08	.	12.7809	0.57476	0.1228:0.0:0.0:0.8771	.	448;448	P16234-3;P16234	.;PGFRA_HUMAN	R	448	ENSP00000257290:M448R	ENSP00000257290:M448R	M	+	2	0	PDGFRA	54833423	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	3.843000	0.55865	1.105000	0.41606	0.533000	0.62120	ATG	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	protein_coding	OTTHUMT00000250598.2	T	NM_006206	-		55138666	1	no_errors	ENST00000257290	ensembl	human	known	74_37	missense	SNP	0.999	G	G	55138666	T	G	55138666	3	3	196	1	0	0	0	0	1	0	0	0	11663	1464	51	5	1373	5	PDGFRA	4	55138666	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	7199691	55138666	136015610	637	13909											
KIT	3815	genome.wustl.edu	37	chr4	55565855	55565855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatcttcttagggaagggGaagaattcacagtgacgtgc	13	7	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:55565855G>A	ENST00000288135.5	+	4	776	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		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	227	Ig-like C2-type 3.				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)	TAGGGAAGGGGAAGAATTCAC	0.413		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																														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								ENSG00000157404						171	154	160					4																	55565855		2203	4300	6503	KIT	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)	-	HGNC	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.679G>A	4.37:g.55565855G>A	ENSP00000288135:p.Glu227Lys	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	59	21.33	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E227K	ENST00000288135.5	37	c.679	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056405	0.55325	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.23552	1.9;1.9	5.92	5.08	0.68730	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.088571	0.47852	D	0.000201	T	0.42017	0.1184	M	0.68593	2.085	0.53688	D	0.999973	D;P	0.54397	0.966;0.844	P;P	0.54856	0.762;0.718	T	0.40403	-0.9565	10	0.87932	D	0	.	13.267	0.60139	0.0729:0.0:0.9271:0.0	.	227;227	P10721-2;P10721	.;KIT_HUMAN	K	227	ENSP00000288135:E227K;ENSP00000390987:E227K	ENSP00000288135:E227K	E	+	1	0	KIT	55260612	1.000000	0.71417	0.326000	0.25389	0.031000	0.12232	5.996000	0.70639	1.519000	0.48950	0.557000	0.71058	GAA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G		-		55565855	1	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	SNP	0.972	A	A	55565855	G	A	55565855	3	1	196	1	0	0	0	0	1	0	0	0	8331	1175	41	2	693	2	KIT	4	55565855	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	427189	55565855	135588421	638	13910											
KIAA1211	57482	genome.wustl.edu	37	chr4	57182186	57182186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgatgccaggtggagagGaaaaagcctcaccgtttgga	14	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:57182186G>A	ENST00000504228.1	+	6	2623	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E833K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E840K			Q6ZU35	K1211_HUMAN	KIAA1211	840										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTGGAGAGGAAAAAGCCTC	0.522																																																	0								ENSG00000109265						68	77	74					4																	57182186		2130	4260	6390	KIAA1211	SO:0001583	missense	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2518G>A	4.37:g.57182186G>A	ENSP00000423366:p.Glu840Lys	Somatic	0	56	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	57	30.49	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP							NULL	p.E840K	ENST00000504228.1	37	c.2518	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928661	0.92389	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.19806	2.12;2.12;2.12	4.97	4.97	0.65823	.	.	.	.	.	T	0.46308	0.1386	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.71656	0.974;0.974;0.856	T	0.45760	-0.9239	9	0.87932	D	0	-19.6335	18.4305	0.90623	0.0:0.0:1.0:0.0	.	833;833;840	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	840;840;833;750	ENSP00000264229:E840K;ENSP00000423366:E840K;ENSP00000444006:E833K	ENSP00000264229:E840K	E	+	1	0	KIAA1211	56876943	1.000000	0.71417	0.988000	0.46212	0.478000	0.33099	9.080000	0.94040	2.579000	0.87056	0.561000	0.74099	GAA	-	NULL		0.522	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	G	NM_020722	-		57182186	1	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57182186	G	A	57182186	3	1	196	1	0	0	0	0	1	0	0	0	8217	1175	41	2	2536	2	KIAA1211	4	57182186	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1616331	57182186	133972090	639	13911											
KIAA1211	57482	genome.wustl.edu	37	chr4	57189570	57189570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcttcagagcagacactCcttagatggctccaaactta	8	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:57189570C>T	ENST00000504228.1	+	7	3320	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S1065F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S1072F			Q6ZU35	K1211_HUMAN	KIAA1211	1072										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGACACTCCTTAGATGGC	0.498																																																	0								ENSG00000109265						74	76	75					4																	57189570		1926	4142	6068	KIAA1211	SO:0001583	missense	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3215C>T	4.37:g.57189570C>T	ENSP00000423366:p.Ser1072Phe	Somatic	0	64	0		0.52429534266604	4	50	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	63	25.00	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP							NULL	p.S1072F	ENST00000504228.1	37	c.3215	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519822	0.64634	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.21031	2.06;2.06;2.03	5.71	5.71	0.89125	.	.	.	.	.	T	0.48589	0.1508	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43845	-0.9366	9	0.87932	D	0	-5.1605	19.8688	0.96842	0.0:1.0:0.0:0.0	.	1065;1072	F5H1N7;Q6ZU35	.;K1211_HUMAN	F	1072;1072;1065	ENSP00000264229:S1072F;ENSP00000423366:S1072F;ENSP00000444006:S1065F	ENSP00000264229:S1072F	S	+	2	0	KIAA1211	56884327	1.000000	0.71417	0.936000	0.37596	0.079000	0.17450	7.266000	0.78452	2.689000	0.91719	0.563000	0.77884	TCC	-	NULL		0.498	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	C	NM_020722	-		57189570	1	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57189570	C	T	57189570	3	4	196	1	0	0	0	0	1	0	0	0	8217	855	30	2	3237	2	KIAA1211	4	57189570	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7384	57189570	133964706	640	13912											
EPHA5	2044	genome.wustl.edu	37	chr4	66230811	66230811	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacttgcttcacctaggaaAtctctgcgttgcttttcagt	7	10	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:66230811A>T	ENST00000273854.3	-	12	2760	c.2160T>A	c.(2158-2160)gaT>gaA	p.D720E	EPHA5_ENST00000432638.2_Missense_Mutation_p.D557E|EPHA5_ENST00000511294.1_Missense_Mutation_p.D721E|EPHA5_ENST00000354839.4_Missense_Mutation_p.D698E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCTAGGAAATCTCTGCGTT	0.388										TSP Lung(17;0.13)																																							0								ENSG00000145242						230	222	225					4																	66230811		2203	4300	6503	EPHA5	SO:0001583	missense	0			-	HGNC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2160T>A	4.37:g.66230811A>T	ENSP00000273854:p.Asp720Glu	Somatic	0	100	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	64	23.81	Q7Z3F2	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D720E	ENST00000273854.3	37	c.2160	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880311	0.72294	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.76	3.34	0.38264	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	0.000013	T	0.78666	0.4319	N	0.04669	-0.19	0.46823	D	0.999218	D;D;D;D	0.67145	0.988;0.986;0.985;0.996	D;D;D;D	0.81914	0.984;0.995;0.973;0.979	T	0.78306	-0.2255	10	0.46703	T	0.11	.	10.1327	0.42689	0.8671:0.0:0.1329:0.0	.	699;721;698;720	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	E	720;557;698;721	ENSP00000273854:D720E;ENSP00000389208:D557E;ENSP00000346899:D698E;ENSP00000427638:D721E	ENSP00000273854:D720E	D	-	3	2	EPHA5	65913406	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.492000	0.45311	0.461000	0.27071	-0.911000	0.02809	GAT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	protein_coding	OTTHUMT00000251388.2	A	NM_004439	-		66230811	-1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66230811	A	T	66230811	3	4	196	1	0	0	0	0	1	0	0	0	5172	98	4	5	981	5	EPHA5	4	66230811	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	9041241	66230811	124923465	641	13913											
STAP1	26228	genome.wustl.edu	37	chr4	68447177	68447177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattatgtggatgtactgaAccctatgccagcgtaagtgc	11	8	0	2	rs549630921		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:68447177A>G	ENST00000265404.2	+	5	600	c.518A>G	c.(517-519)aAc>aGc	p.N173S	STAP1_ENST00000396225.1_Missense_Mutation_p.N173S	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	173					intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GATGTACTGAACCCTATGCCA	0.388													A|||	1	0.000199681	0	0	5008	,	,		20860	0		0	False		,,,				2504	0.001																0								ENSG00000035720						220	199	206					4																	68447177		2203	4300	6503	STAP1	SO:0001583	missense	0			-	HGNC	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.518A>G	4.37:g.68447177A>G	ENSP00000265404:p.Asn173Ser	Somatic	0	47	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	57	32.94	B2R980	Missense_Mutation	SNP							pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.N173S	ENST00000265404.2	37	c.518	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	A	1.501	-0.552022	0.03996	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.42900	0.96;0.96	5.58	0.204	0.15199	SH2 motif (1);	0.490237	0.23295	N	0.049742	T	0.20047	0.0482	L	0.27053	0.805	0.29734	N	0.837636	B	0.10296	0.003	B	0.10450	0.005	T	0.30736	-0.9968	10	0.05721	T	0.95	-5.1855	4.972	0.14121	0.5435:0.2978:0.1587:0.0	.	173	Q9ULZ2	STAP1_HUMAN	S	173	ENSP00000265404:N173S;ENSP00000379527:N173S	ENSP00000265404:N173S	N	+	2	0	STAP1	68129772	0.961000	0.32948	0.996000	0.52242	0.340000	0.28889	0.401000	0.20948	-0.079000	0.12707	-0.328000	0.08392	AAC	-	NULL		0.388	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	protein_coding	OTTHUMT00000251434.1	A	NM_012108	-		68447177	1	no_errors	ENST00000265404	ensembl	human	known	74_37	missense	SNP	0.998	G	G	68447177	A	G	68447177	3	3	196	1	0	0	0	0	1	0	0	0	15259	43	2	5	536	5	STAP1	4	68447177	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2216366	68447177	122707099	642	13914											
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68784885	68784885	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taataaatcttctgacatttCttttcattaagggagggttg	8	5	4	1	rs138567771	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:68784885C>T	ENST00000334830.7	-	8	1513	c.767G>A	c.(766-768)aGa>aAa	p.R256K	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.R252K|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R253K|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCTGACATTTCTTTTCATTAA	0.368																																					NSCLC(26;2 894 10941 14480 22546)												0								ENSG00000187054						148	159	156					4																	68784885		2203	4300	6503	TMPRSS11A	SO:0001583	missense	0			-	HGNC	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.767G>A	4.37:g.68784885C>T	ENSP00000334611:p.Arg256Lys	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	59	20.27	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R256K	ENST00000334830.7	37	c.767	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308645	0.81247	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000007	D	0.95395	0.8505	L	0.49455	1.56	0.36546	D	0.871549	D;D	0.69078	0.997;0.997	D;D	0.79784	0.993;0.993	D	0.96809	0.9595	10	0.51188	T	0.08	.	16.5682	0.84604	0.0:1.0:0.0:0.0	.	253;256	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	K	252;256;253;220	ENSP00000426911:R252K;ENSP00000334611:R256K;ENSP00000379491:R253K;ENSP00000427621:R220K	ENSP00000334611:R256K	R	-	2	0	TMPRSS11A	68467480	0.996000	0.38824	0.997000	0.53966	0.744000	0.42396	2.297000	0.43593	2.512000	0.84698	0.591000	0.81541	AGA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1		0.368	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	protein_coding	OTTHUMT00000251433.3	C	NM_182606	-		68784885	-1	no_errors	ENST00000334830	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68784885	C	T	68784885	3	4	196	1	0	0	0	0	1	0	0	0	16246	913	32	2	510	2	TMPRSS11A	4	68784885	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	337708	68784885	122369391	643	13915											
TMPRSS11E	28983	genome.wustl.edu	37	chr4	69344607	69344607	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgacaagcacaggtgactctCatagacgctacaacttgcaa	8	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:69344607C>T	ENST00000305363.4	+	9	1072	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGTGACTCTCATAGACGCTA	0.363																																																	0								ENSG00000087128						163	155	158					4																	69344607		2203	4300	6503	TMPRSS11E	SO:0001819	synonymous_variant	0			-	HGNC	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1008C>T	4.37:g.69344607C>T		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	42	28.81	A6NL71|Q14DC8|Q6UW31	Silent	SNP							pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L336	ENST00000305363.4	37	c.1008	CCDS33993.1	4																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1		0.363	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11E	protein_coding	OTTHUMT00000360584.1	C	NM_014058	-		69344607	1	no_errors	ENST00000305363	ensembl	human	known	74_37	silent	SNP	0.572	T	T	69344607	C	T	69344607	2	4	196	1	0	0	0	0	0	0	0	1	16249	813	29	2		2	TMPRSS11E	4	69344607	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	559722	69344607	121809669	644	13916											
UGT2B15	7367	genome.wustl.edu	37	chr4	69431360	69431360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggtaagaatgggcgaGgaaattcaaaatcccaatag	10	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:69431360G>A	ENST00000317746.2	-	2	845	c.803C>T	c.(802-804)cCt>cTt	p.P268L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	268					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	GAATGGGCGAGGAAATTCAAA	0.388																																					Melanoma(18;649 833 28984 37818 38500)												0								ENSG00000197888						83	84	84					4																	69431360		2087	3911	5998	UGT2B17	SO:0001583	missense	0			-	HGNC	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.803C>T	4.37:g.69431360G>A	ENSP00000320401:p.Pro268Leu	Somatic	0	91	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	89	34.07		Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.P268L	ENST00000317746.2	37	c.803	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	g	18.19	3.569056	0.65765	.	.	ENSG00000197888	ENST00000317746	T	0.80994	-1.44	2.64	2.64	0.31445	.	0.000000	0.85682	U	0.000000	D	0.90068	0.6898	M	0.93328	3.405	0.47009	D	0.999289	.	.	.	.	.	.	D	0.91672	0.5351	8	0.87932	D	0	.	11.0756	0.48030	0.0:0.0:1.0:0.0	.	.	.	.	L	268	ENSP00000320401:P268L	ENSP00000320401:P268L	P	-	2	0	UGT2B17	69113955	1.000000	0.71417	0.482000	0.27366	0.905000	0.53344	8.559000	0.90708	1.507000	0.48752	0.400000	0.26472	CCT	-	pfam_UDP_glucos_trans		0.388	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	protein_coding	OTTHUMT00000251436.1	G	NM_001077	-		69431360	-1	no_errors	ENST00000317746	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69431360	G	A	69431360	3	1	196	1	0	0	0	0	1	0	0	0	16965	1000	35	2	809	2	UGT2B15	4	69431360	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	86753	69431360	121722916	645	13917											
C4orf40	401137	genome.wustl.edu	37	chr4	71020143	71020143	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttgcttttgcaaggaaGgtaagtaaatggacttccaa	11	5	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71020143G>A	ENST00000344526.5	+	1	240	c.51G>A	c.(49-51)aaG>aaA	p.K17K	C4orf40_ENST00000502294.1_Splice_Site_p.K17K|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		17						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTGCAAGGAAGGTAAGTAAAT	0.299																																																	0								ENSG00000187533						92	89	90					4																	71020143		2203	4300	6503	C4orf40	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000344526.5:c.51+1G>A	4.37:g.71020143G>A		Somatic	0	108	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	84	18.45	A8MXP0|Q6MZR6	Silent	SNP							NULL	p.K17	ENST00000344526.5	37	c.51	CCDS3535.1	4																																																																																			-	NULL		0.299	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf40	protein_coding	OTTHUMT00000251558.1	G		-	Silent	71020143	1	no_errors	ENST00000344526	ensembl	human	known	74_37	silent	SNP	0.042	A	A	71020143	G	A	71020143	5	1	196	1	0	0	0	0	0	0	1	0	2271	1014	35	2	53	2	C4orf40	4	71020143	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1588783	71020143	120134133	646	13918											
AMBN	258	genome.wustl.edu	37	chr4	71472162	71472162	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgctccccacgcagggctCcttgctctccctaaggatga	9	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71472162C>T	ENST00000322937.6	+	13	1162	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AMBN_ENST00000449493.2_Silent_p.L338L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	353					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACGCAGGGCTCCTTGCTCTCC	0.592																																																	0								ENSG00000178522						52	51	51					4																	71472162		2202	4300	6502	AMBN	SO:0001819	synonymous_variant	0			-	HGNC	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1059C>T	4.37:g.71472162C>T		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q3B862|Q9H2X1|Q9H4L1	Silent	SNP							pfam_Amelin,smart_Amelin	p.L353	ENST00000322937.6	37	c.1059	CCDS3543.1	4																																																																																			-	pfam_Amelin,smart_Amelin		0.592	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	protein_coding	OTTHUMT00000252165.1	C	NM_016519	-		71472162	1	no_errors	ENST00000322937	ensembl	human	known	74_37	silent	SNP	0.959	T	T	71472162	C	T	71472162	2	4	196	1	0	0	0	0	0	0	0	1	563	842	30	2		2	AMBN	4	71472162	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	452019	71472162	119682114	647	13919											
AMBN	258	genome.wustl.edu	37	chr4	71472327	71472327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaccacatccgtggatttCcaggaagaagcaaccatgga	10	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71472327C>T	ENST00000322937.6	+	13	1327	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	AMBN_ENST00000449493.2_Silent_p.F393F	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	408					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CCGTGGATTTCCAGGAAGAAG	0.532																																																	0								ENSG00000178522						67	69	69					4																	71472327		2203	4300	6503	AMBN	SO:0001819	synonymous_variant	0			-	HGNC	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1224C>T	4.37:g.71472327C>T		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	45	16.67	Q3B862|Q9H2X1|Q9H4L1	Silent	SNP							pfam_Amelin,smart_Amelin	p.F408	ENST00000322937.6	37	c.1224	CCDS3543.1	4																																																																																			-	pfam_Amelin,smart_Amelin		0.532	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	protein_coding	OTTHUMT00000252165.1	C	NM_016519	-		71472327	1	no_errors	ENST00000322937	ensembl	human	known	74_37	silent	SNP	0.003	T	T	71472327	C	T	71472327	2	4	196	1	0	0	0	0	0	0	0	1	563	854	30	2		2	AMBN	4	71472327	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	165	71472327	119681949	648	13920											
ENAM	10117	genome.wustl.edu	37	chr4	71500252	71500252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagccatcacataatcaAcctcagcccgaagaggaagc	8	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71500252A>G	ENST00000396073.3	+	6	719	c.438A>G	c.(436-438)caA>caG	p.Q146Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	146					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACATAATCAACCTCAGCCCG	0.488																																																	0								ENSG00000132464						99	103	102					4																	71500252		2203	4296	6499	ENAM	SO:0001819	synonymous_variant	0			-	HGNC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.438A>G	4.37:g.71500252A>G		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	Q17RI5|Q9H3D1	Silent	SNP							NULL	p.Q146	ENST00000396073.3	37	c.438	CCDS3544.2	4																																																																																			-	NULL		0.488	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	A	NM_031889	-		71500252	1	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	SNP	0.000	G	G	71500252	A	G	71500252	2	3	196	1	0	0	0	0	0	0	0	1	5114	40	2	5		5	ENAM	4	71500252	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	27925	71500252	119654024	649	13921											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73169770	73169770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctttgccatttaaaataTaatggcctgtagcctggttc	7	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:73169770T>C	ENST00000286657.4	-	17	2324	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	763	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTAAAATATAATGGCCTGT	0.383																																					NSCLC(168;1941 2048 2918 13048 43078)												0								ENSG00000156140						143	149	147					4																	73169770		2203	4300	6503	ADAMTS3	SO:0001583	missense	0			-	HGNC	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2288A>G	4.37:g.73169770T>C	ENSP00000286657:p.Tyr763Cys	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	36	38.98	A1L3U9|Q9BXZ8	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Y763C	ENST00000286657.4	37	c.2288	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459143	0.63401	.	.	ENSG00000156140	ENST00000286657	T	0.57273	0.41	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.79926	2.475	0.52501	D	0.999959	D	0.71674	0.998	D	0.67382	0.951	T	0.77747	-0.2472	10	0.87932	D	0	.	15.7409	0.77894	0.0:0.0:0.0:1.0	.	763	O15072	ATS3_HUMAN	C	763	ENSP00000286657:Y763C	ENSP00000286657:Y763C	Y	-	2	0	ADAMTS3	73388634	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.871000	0.63042	2.120000	0.65058	0.533000	0.62120	TAT	-	pfam_ADAM_spacer1		0.383	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	T		-		73169770	-1	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	SNP	1.000	C	C	73169770	T	C	73169770	3	2	196	1	0	0	0	0	1	0	0	0	267	1406	49	5	1353	5	ADAMTS3	4	73169770	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1669518	73169770	117984506	650	13922											
ANKRD17	26057	genome.wustl.edu	37	chr4	73956416	73956416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggtctctgtaatggtGgtctaaaacctggagctttg	13	7	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:73956416G>A	ENST00000358602.4	-	29	7045	c.6929C>T	c.(6928-6930)cCa>cTa	p.P2310L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2059L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2197L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2310					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTAATGGTGGTCTAAAACC	0.403																																																	0								ENSG00000132466						100	105	104					4																	73956416		2203	4299	6502	ANKRD17	SO:0001583	missense	0			-	HGNC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6929C>T	4.37:g.73956416G>A	ENSP00000351416:p.Pro2310Leu	Somatic	0	68	0		0.52429534266604	22	21.43	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	41	39.71	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.P2310L	ENST00000358602.4	37	c.6929	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121530	0.37436	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.71341	-0.56;-0.54;-0.28	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000007	T	0.70919	0.3279	L	0.52573	1.65	0.51482	D	0.999922	P;P;P;P	0.42518	0.782;0.782;0.675;0.675	B;B;B;B	0.41174	0.349;0.274;0.19;0.142	T	0.73814	-0.3864	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	2309;2059;2310;2197	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	2310;1717;2059;2197;694	ENSP00000351416:P2310L;ENSP00000332265:P2059L;ENSP00000427151:P2197L	ENSP00000332265:P2059L	P	-	2	0	ANKRD17	74175280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.555000	0.67301	2.838000	0.97847	0.655000	0.94253	CCA	-	NULL		0.403	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	G	NM_032217	-		73956416	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73956416	G	A	73956416	3	1	196	1	0	0	0	0	1	0	0	0	646	1348	47	2	906	2	ANKRD17	4	73956416	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	786646	73956416	117197860	651	13923											
PPEF2	5470	genome.wustl.edu	37	chr4	76808020	76808020	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cataccttataaaatataaaGattaagtcatccaattggcc	4	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:76808020G>A	ENST00000286719.7	-	7	920	c.564C>T	c.(562-564)atC>atT	p.I188I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	188	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAAATATAAAGATTAAGTCAT	0.289																																					NSCLC(105;1359 1603 15961 44567 47947)												0								ENSG00000156194						45	54	51					4																	76808020		2180	4268	6448	PPEF2	SO:0001819	synonymous_variant	0			-	HGNC	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.564C>T	4.37:g.76808020G>A		Somatic	0	82	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	61	35.11	O14831	Silent	SNP							pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.I188	ENST00000286719.7	37	c.564	CCDS34013.1	4																																																																																			-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.289	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	protein_coding	OTTHUMT00000362929.1	G	NM_006239	-		76808020	-1	no_errors	ENST00000286719	ensembl	human	known	74_37	silent	SNP	0.998	A	A	76808020	G	A	76808020	2	1	196	1	0	0	0	0	0	0	0	1	12310	932	33	2		2	PPEF2	4	76808020	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2851604	76808020	114346256	652	13924											
SHROOM3	57619	genome.wustl.edu	37	chr4	77631425	77631425	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcaggaggggttaaacTtcggctgaagcacaggtaag	16	6	1	1	rs3821979	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:77631425T>G	ENST00000296043.6	+	3	1393	c.440T>G	c.(439-441)cTt>cGt	p.L147R	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	147			L -> H (in dbSNP:rs3821979).		actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGGTTAAACTTCGGCTGAAG	0.577																																																	0			GRCh37	CM063143	SHROOM3	M	rs3821979	ENSG00000138771						85	73	77					4																	77631425		2203	4300	6503	SHROOM3	SO:0001583	missense	0			-	HGNC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.440T>G	4.37:g.77631425T>G	ENSP00000296043:p.Leu147Arg	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	84	17.65	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L147R	ENST00000296043.6	37	c.440	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627954	0.46944	.	.	ENSG00000138771	ENST00000296043	T	0.33865	1.39	4.96	3.78	0.43462	.	0.000000	0.36101	N	0.002789	T	0.46580	0.1400	M	0.62723	1.935	0.35594	D	0.807311	D	0.58268	0.982	P	0.55824	0.785	T	0.59241	-0.7491	10	0.87932	D	0	-2.793	7.8964	0.29708	0.0:0.0961:0.0:0.9039	.	147	Q8TF72	SHRM3_HUMAN	R	147	ENSP00000296043:L147R	ENSP00000296043:L147R	L	+	2	0	SHROOM3	77850449	0.921000	0.31238	1.000000	0.80357	0.879000	0.50718	0.142000	0.16096	1.002000	0.39104	0.482000	0.46254	CTT	-	NULL		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	T	NM_020859	-		77631425	1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77631425	T	G	77631425	3	3	196	1	0	0	0	0	1	0	0	0	14303	1609	56	5	450	5	SHROOM3	4	77631425	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	823405	77631425	113522851	653	13925											
SHROOM3	57619	genome.wustl.edu	37	chr4	77660843	77660843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatacatagcccctcaggGagcatgcaacaagatggcta	11	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:77660843G>A	ENST00000296043.6	+	5	2470	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	506					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCCTCAGGGAGCATGCAAC	0.547																																																	0								ENSG00000138771						107	109	108					4																	77660843		2203	4300	6503	SHROOM3	SO:0001583	missense	0			-	HGNC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1517G>A	4.37:g.77660843G>A	ENSP00000296043:p.Gly506Glu	Somatic	0	27	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G506E	ENST00000296043.6	37	c.1517	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	5.431	0.264572	0.10294	.	.	ENSG00000138771	ENST00000296043	T	0.19250	2.16	5.59	0.887	0.19200	.	0.894418	0.09476	N	0.797001	T	0.19967	0.0480	M	0.65975	2.015	0.09310	N	1	B;B;B	0.18741	0.024;0.013;0.03	B;B;B	0.15052	0.007;0.012;0.012	T	0.38415	-0.9662	10	0.66056	D	0.02	-2.847	2.0529	0.03574	0.2875:0.3289:0.2758:0.1078	.	330;506;284	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	E	506	ENSP00000296043:G506E	ENSP00000296043:G506E	G	+	2	0	SHROOM3	77879867	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.889000	0.04144	0.310000	0.22990	0.563000	0.77884	GGA	-	NULL		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	G	NM_020859	-		77660843	1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	SNP	0.000	A	A	77660843	G	A	77660843	3	1	196	1	0	0	0	0	1	0	0	0	14303	1174	41	2	1535	2	SHROOM3	4	77660843	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	29418	77660843	113493433	654	13926											
FRAS1	80144	genome.wustl.edu	37	chr4	79343054	79343054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccaccctcactctcctatCcggtatttcacgcaagagga	7	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:79343054C>T	ENST00000325942.6	+	34	5018	c.4578C>T	c.(4576-4578)atC>atT	p.I1526I	FRAS1_ENST00000264895.6_Silent_p.I1526I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1526					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						ACTCTCCTATCCGGTATTTCA	0.542																																																	0								ENSG00000138759						195	208	204					4																	79343054		2048	4169	6217	FRAS1	SO:0001819	synonymous_variant	0			-	HGNC	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.4578C>T	4.37:g.79343054C>T		Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.I1526	ENST00000325942.6	37	c.4578	CCDS54772.1	4																																																																																			-	NULL		0.542	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	C		-		79343054	1	no_errors	ENST00000264895	ensembl	human	known	74_37	silent	SNP	0.727	T	T	79343054	C	T	79343054	2	4	196	1	0	0	0	0	0	0	0	1	6044	845	30	2		2	FRAS1	4	79343054	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1682211	79343054	111811222	655	13927											
C4orf22	255119	genome.wustl.edu	37	chr4	81791227	81791227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcccacaggctaaagacGgaagattttgaagtctactt	9	8	1	3	rs374347843		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:81791227G>A	ENST00000358105.3	+	4	463	c.414G>A	c.(412-414)acG>acA	p.T138T	C4orf22_ENST00000508675.1_Silent_p.T155T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	138			T -> M (in dbSNP:rs11947742).							NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GGCTAAAGACGGAAGATTTTG	0.403													G|||	1	0.000199681	0	0.0014	5008	,	,		16661	0		0	False		,,,				2504	0																0								ENSG00000197826	G	,	0,4406		0,0,2203	111	117	115		465,414	-10.1	0	4		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C4orf22	NM_001206997.1,NM_152770.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	155/251,138/234	81791227	1,13005	2203	4300	6503	C4orf22	SO:0001819	synonymous_variant	0			-	HGNC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.414G>A	4.37:g.81791227G>A		Somatic	0	58	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	E7EQ13|Q6ZQY4|Q8N4G9	Silent	SNP							NULL	p.T155	ENST00000358105.3	37	c.465	CCDS3587.1	4																																																																																			-	NULL		0.403	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	protein_coding	OTTHUMT00000252629.2	G	NM_152770	-		81791227	1	no_errors	ENST00000508675	ensembl	human	known	74_37	silent	SNP	0.000	A	A	81791227	G	A	81791227	2	1	196	1	0	0	0	0	0	0	0	1	2257	1103	39	1		1	C4orf22	4	81791227	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2448173	81791227	109363049	656	13928											
C4orf22	255119	genome.wustl.edu	37	chr4	81866076	81866076	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaaagagacagaaaaattCttaatgtggacccaaaggta	8	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:81866076C>T	ENST00000358105.3	+	5	638	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214F	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000197826						71	75	73					4																	81866076		2203	4297	6500	C4orf22	SO:0001583	missense	0			-	HGNC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.589C>T	4.37:g.81866076C>T	ENSP00000350818:p.Leu197Phe	Somatic	0	67	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP							NULL	p.L214F	ENST00000358105.3	37	c.640	CCDS3587.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153887	0.57259	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.34472	1.36;1.36	5.57	3.66	0.41972	.	0.083419	0.45361	D	0.000370	T	0.47210	0.1433	L	0.59436	1.845	0.38359	D	0.944554	D;B	0.59357	0.985;0.363	P;B	0.62014	0.897;0.281	T	0.43048	-0.9415	10	0.38643	T	0.18	.	8.0694	0.30680	0.208:0.704:0.0:0.088	.	214;197	E7EQ13;Q6V702	.;CD022_HUMAN	F	197;214	ENSP00000350818:L197F;ENSP00000425786:L214F	ENSP00000350818:L197F	L	+	1	0	C4orf22	82085100	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.775000	0.26689	2.618000	0.88619	0.655000	0.94253	CTT	-	NULL		0.333	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	protein_coding	OTTHUMT00000252629.2	C	NM_152770	-		81866076	1	no_errors	ENST00000508675	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81866076	C	T	81866076	3	4	196	1	0	0	0	0	1	0	0	0	2257	913	32	2	607	2	C4orf22	4	81866076	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	74849	81866076	109288200	657	13929											
HNRNPD	3184	genome.wustl.edu	37	chr4	83280730	83280730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacaacttcaccaaatttgGaaaagtagtccttcagatct	5	10	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:83280730G>A	ENST00000313899.7	-	3	630	c.353C>T	c.(352-354)tCc>tTc	p.S118F	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000543098.1_Missense_Mutation_p.S66F|HNRNPD_ENST00000353341.4_Missense_Mutation_p.S118F|HNRNPD_ENST00000352301.4_Missense_Mutation_p.S99F	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	118	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ACCAAATTTGGAAAAGTAGTC	0.378																																																	0								ENSG00000138668						124	122	122					4																	83280730		2203	4300	6503	HNRNPD	SO:0001583	missense	0			-	HGNC	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.353C>T	4.37:g.83280730G>A	ENSP00000313199:p.Ser118Phe	Somatic	0	45	0		0.52429534266604	426	35.6	236	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP							pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.S118F	ENST00000313899.7	37	c.353	CCDS3592.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348575	0.82132	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.148331	0.64402	D	0.000007	D	0.93703	0.7988	M	0.88181	2.935	0.80722	D	1	D;D;D;P	0.63880	0.982;0.993;0.96;0.956	P;D;P;P	0.65443	0.891;0.935;0.891;0.905	D	0.93815	0.7113	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	99;118;99;118	Q14103-4;Q14103-3;Q14103-2;Q14103	.;.;.;HNRPD_HUMAN	F	118;118;99;66;93;51;118;20;99;72	ENSP00000313199:S118F;ENSP00000313327:S118F;ENSP00000305860:S99F;ENSP00000439380:S66F;ENSP00000420926:S51F;ENSP00000421952:S118F;ENSP00000426666:S20F;ENSP00000422615:S99F;ENSP00000425439:S72F	ENSP00000307544:S93F	S	-	2	0	HNRNPD	83499754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.413000	0.80104	2.937000	0.99478	0.650000	0.86243	TCC	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.378	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	protein_coding	OTTHUMT00000252630.2	G	NM_031370	-		83280730	-1	no_errors	ENST00000313899	ensembl	human	known	74_37	missense	SNP	1.000	A	A	83280730	G	A	83280730	3	1	196	1	0	0	0	0	1	0	0	0	7266	1174	41	2	738	2	HNRNPD	4	83280730	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1414654	83280730	107873546	658	13930											
SCD5	79966	genome.wustl.edu	37	chr4	83601976	83601976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacccaatatgggagaagaaGaagccccggcgggcattgtg	14	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:83601976G>A	ENST00000319540.4	-	3	772	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SCD5_ENST00000273908.4_Silent_p.F151F	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	151					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGGAGAAGAAGAAGCCCCGGC	0.547																																																	0								ENSG00000145284						105	112	109					4																	83601976		2203	4300	6503	SCD5	SO:0001819	synonymous_variant	0			-	HGNC	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.453C>T	4.37:g.83601976G>A		Somatic	0	34	0		0.52429534266604	6	45.45	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP							pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.F151	ENST00000319540.4	37	c.453	CCDS34024.1	4																																																																																			-	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core		0.547	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	protein_coding	OTTHUMT00000252635.1	G	NM_024906	-		83601976	-1	no_errors	ENST00000319540	ensembl	human	known	74_37	silent	SNP	1.000	A	A	83601976	G	A	83601976	2	1	196	1	0	0	0	0	0	0	0	1	13895	933	33	2		2	SCD5	4	83601976	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	321246	83601976	107552300	659	13931											
HELQ	113510	genome.wustl.edu	37	chr4	84339339	84339339	+	Silent	SNP	A	A	T													tctaccaaaagggctctgtaAacccaaaactcctcaagctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:84339339A>T	ENST00000295488.3	-	16	3132	c.2970T>A	c.(2968-2970)gtT>gtA	p.V990V	HELQ_ENST00000510985.1_Silent_p.V923V	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	990					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GGGCTCTGTAAACCCAAAACT	0.368								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000163312						124	130	128					4																	84339339		2203	4300	6503	HELQ	SO:0001819	synonymous_variant	0			-	HGNC	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2970T>A	4.37:g.84339339A>T		Somatic	0	101	0		0.52429534266604	20	9.09	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	84	30.58	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V990	ENST00000295488.3	37	c.2970	CCDS3603.1	4																																																																																			-	NULL		0.368	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	protein_coding	OTTHUMT00000252810.1	A	NM_133636	-		84339339	-1	no_errors	ENST00000295488	ensembl	human	known	74_37	silent	SNP	0.997	T	T	84339339	A	T	84339339	2	4	196	1	0	0	0	0	0	0	0	1	7049	1	1	5		5	HELQ	4	84339339	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	737363	84339339	106814937	660	13932	261	2									
HELQ	113510	genome.wustl.edu	37	chr4	84339341	84339341	+	Frame_Shift_Del	DEL	C	C	-													taccaaaagggctctgtaaaCccaaaactcctcaagctcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:84339341delC	ENST00000295488.3	-	16	3130	c.2968delG	c.(2968-2970)gttfs	p.V990fs	HELQ_ENST00000510985.1_Frame_Shift_Del_p.V923fs	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	990					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCTCTGTAAACCCAAAACTCC	0.373								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000163312						121	127	125					4																	84339341		2203	4300	6503	HELQ	SO:0001589	frameshift_variant	0				HGNC	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2968delG	4.37:g.84339341delC	ENSP00000295488:p.Val990fs	Somatic	0	101	0		0.52429534266604	22	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	87	28.10	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Frame_Shift_Del	DEL							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V990fs	ENST00000295488.3	37	c.2968	CCDS3603.1	4																																																																																			-	NULL		0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	protein_coding	OTTHUMT00000252810.1	C	NM_133636			84339341	-1	no_errors	ENST00000295488	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	84339341	C	-	84339341	7	5	196	1	0	1	0	1	0	0	0	0	7049	507	18	0	349	0	HELQ	4	84339341	Frame_Shift_Del	DEL	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	84339341	106814935	661	13933	261	2									
HELQ	113510	genome.wustl.edu	37	chr4	84368140	84368140	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctttgcttccagcatattCttcaacaaagaaaccgagtt	5	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:84368140C>T	ENST00000295488.3	-	4	1402	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	414	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAGCATATTCTTCAACAAAG	0.358								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000163312						60	59	59					4																	84368140		2203	4300	6503	HELQ	SO:0001583	missense	0			-	HGNC	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1240G>A	4.37:g.84368140C>T	ENSP00000295488:p.Glu414Lys	Somatic	0	95	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	60	43.93	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E414K	ENST00000295488.3	37	c.1240	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.427561	0.96131	.	.	ENSG00000163312	ENST00000295488	T	0.14516	2.5	5.44	5.44	0.79542	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57929	-0.7726	10	0.48119	T	0.1	-12.7298	19.6316	0.95708	0.0:1.0:0.0:0.0	.	414	Q8TDG4	HELQ_HUMAN	K	414	ENSP00000295488:E414K	ENSP00000295488:E414K	E	-	1	0	HELQ	84587164	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.583000	0.82559	2.708000	0.92522	0.585000	0.79938	GAA	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.358	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	protein_coding	OTTHUMT00000252810.1	C	NM_133636	-		84368140	-1	no_errors	ENST00000295488	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84368140	C	T	84368140	3	4	196	1	0	0	0	0	1	0	0	0	7049	922	32	2	2125	2	HELQ	4	84368140	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	28799	84368140	106786136	662	13934											
WDFY3	23001	genome.wustl.edu	37	chr4	85701377	85701377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaggccatggccaccaGgcccaggatggctgcagctc	13	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:85701377G>A	ENST00000295888.4	-	26	4656	c.4249C>T	c.(4249-4251)Ctg>Ttg	p.L1417L	WDFY3_ENST00000322366.6_Silent_p.L1417L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1417					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGCCACCAGGCCCAGGATG	0.478																																																	0								ENSG00000163625						110	102	105					4																	85701377		2203	4300	6503	WDFY3	SO:0001819	synonymous_variant	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4249C>T	4.37:g.85701377G>A		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	57	32.14	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1417	ENST00000295888.4	37	c.4249	CCDS3609.1	4																																																																																			-	NULL		0.478	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991	-		85701377	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	SNP	1.000	A	A	85701377	G	A	85701377	2	1	196	1	0	0	0	0	0	0	0	1	17277	991	35	2		2	WDFY3	4	85701377	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1333237	85701377	105452899	663	13935											
DSPP	1834	genome.wustl.edu	37	chr4	88533801	88533801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaacagaagcaacactAatggaaatactgataagaat	6	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:88533801A>T	ENST00000282478.7	+	3	496	c.463A>T	c.(463-465)Aat>Tat	p.N155Y	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N155Y			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	155					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAACACTAATGGAAATAC	0.443																																																	0								ENSG00000152591						113	108	110					4																	88533801		2001	4177	6178	DSPP	SO:0001583	missense	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.463A>T	4.37:g.88533801A>T	ENSP00000282478:p.Asn155Tyr	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	44	33.33	A8MUI0|O95815	Missense_Mutation	SNP							NULL	p.N155Y	ENST00000282478.7	37	c.463	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508497	0.27036	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.92446	-3.04;-3.04	4.81	-2.33	0.06724	.	1.919890	0.03319	N	0.191706	D	0.84474	0.5480	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.70378	-0.4888	10	0.72032	D	0.01	-0.5427	3.0288	0.06099	0.5732:0.1112:0.2121:0.1035	.	155	Q9NZW4	DSPP_HUMAN	Y	155	ENSP00000382213:N155Y;ENSP00000282478:N155Y	ENSP00000282478:N155Y	N	+	1	0	DSPP	88752825	0.118000	0.22208	0.000000	0.03702	0.000000	0.00434	0.786000	0.26844	-0.575000	0.05982	-1.811000	0.00612	AAT	-	NULL		0.443	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	A	NM_014208	-		88533801	1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	SNP	0.000	T	T	88533801	A	T	88533801	3	4	196	1	0	0	0	0	1	0	0	0	4784	362	13	5	473	5	DSPP	4	88533801	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2832424	88533801	102620475	664	13936											
DSPP	1834	genome.wustl.edu	37	chr4	88535015	88535015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcaacgaaggtaaagagGataaaggacaacatggaatg	13	4	0	1	rs527711624		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:88535015G>A	ENST00000282478.7	+	4	1234	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D401N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	401					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGTAAAGAGGATAAAGGACA	0.438																																																	0								ENSG00000152591						133	123	126					4																	88535015		1946	4140	6086	DSPP	SO:0001583	missense	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1201G>A	4.37:g.88535015G>A	ENSP00000282478:p.Asp401Asn	Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.57	A8MUI0|O95815	Missense_Mutation	SNP							NULL	p.D401N	ENST00000282478.7	37	c.1201	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602216	0.13939	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.86366	-2.11;-2.11	4.2	-0.27	0.12926	.	0.421583	0.17464	N	0.173349	T	0.73156	0.3551	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.59408	-0.7460	10	0.45353	T	0.12	0.0722	3.6176	0.08083	0.5884:0.1935:0.2181:0.0	.	401	Q9NZW4	DSPP_HUMAN	N	401	ENSP00000382213:D401N;ENSP00000282478:D401N	ENSP00000282478:D401N	D	+	1	0	DSPP	88754039	0.013000	0.17824	0.006000	0.13384	0.012000	0.07955	0.883000	0.28200	-0.122000	0.11766	-0.738000	0.03535	GAT	-	NULL		0.438	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	G	NM_014208	-		88535015	1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	SNP	0.147	A	A	88535015	G	A	88535015	3	1	196	1	0	0	0	0	1	0	0	0	4784	1174	41	2	1215	2	DSPP	4	88535015	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1214	88535015	102619261	665	13937											
HERC5	51191	genome.wustl.edu	37	chr4	89385033	89385033	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtttactttcggtgctGgaaaacatgggcaacttggt	12	7	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:89385033G>C	ENST00000264350.3	+	6	961	c.808G>C	c.(808-810)Gga>Cga	p.G270R		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	270					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTCGGTGCTGGAAAACATGG	0.408																																					Esophageal Squamous(39;887 1012 34045 50514)												0								ENSG00000138646						176	159	164					4																	89385033		2203	4300	6503	HERC5	SO:0001583	missense	0			-	HGNC	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.808G>C	4.37:g.89385033G>C	ENSP00000264350:p.Gly270Arg	Somatic	0	106	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	68	36.45	B2RTQ1|Q69G20	Missense_Mutation	SNP							pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G270R	ENST00000264350.3	37	c.808	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553906	0.86231	.	.	ENSG00000138646	ENST00000264350	D	0.88124	-2.34	4.75	4.75	0.60458	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.101842	0.42548	D	0.000686	D	0.95752	0.8618	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96950	0.9694	10	0.72032	D	0.01	.	17.8931	0.88878	0.0:0.0:1.0:0.0	.	270	Q9UII4	HERC5_HUMAN	R	270	ENSP00000264350:G270R	ENSP00000264350:G270R	G	+	1	0	HERC5	89604056	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.760000	0.74939	2.625000	0.88918	0.650000	0.86243	GGA	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.408	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	protein_coding	OTTHUMT00000253554.2	G	NM_016323	-		89385033	1	no_errors	ENST00000264350	ensembl	human	known	74_37	missense	SNP	1.000	C	C	89385033	G	C	89385033	3	2	196	1	0	0	0	0	1	0	0	0	7063	1349	47	4	830	4	HERC5	4	89385033	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	850018	89385033	101769243	666	13938											
MMRN1	22915	genome.wustl.edu	37	chr4	90857534	90857534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgcaagtattaaattcCagatttaaggcgttggaagc	9	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:90857534C>T	ENST00000394980.1	+	7	3022	c.2703C>T	c.(2701-2703)tcC>tcT	p.S901S	MMRN1_ENST00000264790.2_Silent_p.S901S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.S643S			Q13201	MMRN1_HUMAN	multimerin 1	901					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTAAATTCCAGATTTAAGG	0.348																																																	0								ENSG00000138722						61	64	63					4																	90857534		2200	4300	6500	MMRN1	SO:0001819	synonymous_variant	0			-	HGNC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2703C>T	4.37:g.90857534C>T		Somatic	0	111	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	76	47.22	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP							pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.S901	ENST00000394980.1	37	c.2703	CCDS3635.1	4																																																																																			-	NULL		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	C	NM_007351	-		90857534	1	no_errors	ENST00000264790	ensembl	human	known	74_37	silent	SNP	0.801	T	T	90857534	C	T	90857534	2	4	196	1	0	0	0	0	0	0	0	1	9672	581	21	2		2	MMRN1	4	90857534	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1472501	90857534	100296742	667	13939											
FAM190A	401145	genome.wustl.edu	37	chr4	91321246	91321246	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctaatgcttgatctTgaatttttagaggaacagag	10	4	2	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:91321246T>G	ENST00000509176.1	+	4	1857	c.1569T>G	c.(1567-1569)ctT>ctG	p.L523L	CCSER1_ENST00000333691.8_Silent_p.L523L|CCSER1_ENST00000432775.2_Silent_p.L523L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	523																	TGCTTGATCTTGAATTTTTAG	0.353																																																	0								ENSG00000184305						186	157	166					4																	91321246		1857	4119	5976	CCSER1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1569T>G	4.37:g.91321246T>G		Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	Q4W5M0|Q86V57	Silent	SNP							NULL	p.L523	ENST00000509176.1	37	c.1569	CCDS47099.1	4																																																																																			-	NULL		0.353	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	protein_coding	OTTHUMT00000363109.3	T	NM_001145065	-		91321246	1	no_errors	ENST00000333691	ensembl	human	known	74_37	silent	SNP	0.995	G	G	91321246	T	G	91321246	2	3	196	1	0	0	0	0	0	0	0	1	5523	1799	63	5		5	FAM190A	4	91321246	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	463712	91321246	99833030	668	13940											
SMARCAD1	56916	genome.wustl.edu	37	chr4	95194791	95194791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaaaaactattcaagcCattgcatttctggcatacct	6	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:95194791C>T	ENST00000354268.4	+	12	1669	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	SMARCAD1_ENST00000509418.1_Silent_p.A102A|SMARCAD1_ENST00000457823.2_Silent_p.A532A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	532	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CTATTCAAGCCATTGCATTTC	0.318																																																	0								ENSG00000163104						103	96	98					4																	95194791		2203	4300	6503	SMARCAD1	SO:0001819	synonymous_variant	0			-	HGNC	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1596C>T	4.37:g.95194791C>T		Somatic	0	69	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	61	34.41	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A532	ENST00000354268.4	37	c.1596	CCDS3639.1	4																																																																																			-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.318	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	protein_coding	OTTHUMT00000253583.1	C	NM_020159	-		95194791	1	no_errors	ENST00000359052	ensembl	human	known	74_37	silent	SNP	0.935	T	T	95194791	C	T	95194791	2	4	196	1	0	0	0	0	0	0	0	1	14780	581	21	2		2	SMARCAD1	4	95194791	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3873545	95194791	95959485	669	13941											
PDHA2	5161	genome.wustl.edu	37	chr4	96762304	96762304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactgtggaagaattaaagGaaattggggctgaggtgagg	16	4	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:96762304G>A	ENST00000295266.4	+	1	1066	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	335					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGAATTAAAGGAAATTGGGGC	0.423																																																	0								ENSG00000163114						99	94	96					4																	96762304		2203	4300	6503	PDHA2	SO:0001583	missense	0			-	HGNC		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1003G>A	4.37:g.96762304G>A	ENSP00000295266:p.Glu335Lys	Somatic	0	53	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	29.69	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP							pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.E335K	ENST00000295266.4	37	c.1003	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	5.362	0.252016	0.10185	.	.	ENSG00000163114	ENST00000295266	D	0.97328	-4.34	4.91	3.18	0.36537	Dehydrogenase, E1 component (1);	0.051493	0.85682	D	0.000000	D	0.95030	0.8391	L	0.41124	1.26	0.42157	D	0.991581	P	0.51653	0.947	P	0.51777	0.679	D	0.91696	0.5370	10	0.20519	T	0.43	-20.2207	8.5678	0.33550	0.0855:0.1548:0.7597:0.0	.	335	P29803	ODPAT_HUMAN	K	335	ENSP00000295266:E335K	ENSP00000295266:E335K	E	+	1	0	PDHA2	96981327	1.000000	0.71417	0.106000	0.21319	0.067000	0.16453	7.021000	0.76425	0.787000	0.33731	0.467000	0.42956	GAA	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	protein_coding	OTTHUMT00000253608.1	G		-		96762304	1	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96762304	G	A	96762304	3	1	196	1	0	0	0	0	1	0	0	0	11667	1175	41	2	1005	2	PDHA2	4	96762304	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1567513	96762304	94391972	670	13942											
RG9MTD2	93587	genome.wustl.edu	37	chr4	100480404	100480404	+	Missense_Mutation	SNP	G	G	A													cacacccttcacctaatcttGgcttctggctctcctcttga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:100480404G>A	ENST00000273962.3	-	2	404	c.92C>T	c.(91-93)cCa>cTa	p.P31L	TRMT10A_ENST00000394876.2_Missense_Mutation_p.P31L|TRMT10A_ENST00000394877.3_Missense_Mutation_p.P31L	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	31					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										ACCTAATCTTGGCTTCTGGCT	0.378																																																	0								ENSG00000145331						250	228	236					4																	100480404		2203	4300	6503	TRMT10A	SO:0001583	missense	0			-	HGNC	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.92C>T	4.37:g.100480404G>A	ENSP00000273962:p.Pro31Leu	Somatic	0	67	0		0.52429534266604	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	B2R8X7|Q9Y2T9	Missense_Mutation	SNP							pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.P31L	ENST00000273962.3	37	c.92	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960680	0.18583	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.47869	2.19;2.19;2.19;1.44;0.83	5.65	1.77	0.24775	.	1.818770	0.02563	N	0.097018	T	0.42040	0.1185	L	0.53249	1.67	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	10	0.44086	T	0.13	-0.3638	1.268	0.02015	0.2071:0.1124:0.3352:0.3453	.	31	Q8TBZ6	RG9D2_HUMAN	L	31	ENSP00000378343:P31L;ENSP00000273962:P31L;ENSP00000378342:P31L;ENSP00000397551:P31L;ENSP00000423628:P31L	ENSP00000273962:P31L	P	-	2	0	RG9MTD2	100699427	0.144000	0.22641	0.049000	0.19019	0.377000	0.30045	0.709000	0.25734	0.004000	0.14682	0.655000	0.94253	CCA	-	pirsf_tRNA_MeTfrase_TRM10		0.378	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	protein_coding	OTTHUMT00000253668.1	G	NM_152292	-		100480404	-1	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	SNP	0.004	A	A	100480404	G	A	100480404	3	1	196	1	0	0	0	0	1	0	0	0	13280	1348	47	2	955	2	RG9MTD2	4	100480404	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3718100	100480404	90673872	671	13943	262	2									
RG9MTD2	93587	genome.wustl.edu	37	chr4	100480405	100480405	+	Missense_Mutation	SNP	G	G	A													acacccttcacctaatcttgGcttctggctctcctcttgat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:100480405G>A	ENST00000273962.3	-	2	403	c.91C>T	c.(91-93)Cca>Tca	p.P31S	TRMT10A_ENST00000394876.2_Missense_Mutation_p.P31S|TRMT10A_ENST00000394877.3_Missense_Mutation_p.P31S	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	31					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CCTAATCTTGGCTTCTGGCTC	0.378																																																	0								ENSG00000145331						249	228	235					4																	100480405		2203	4299	6502	TRMT10A	SO:0001583	missense	0			-	HGNC	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.91C>T	4.37:g.100480405G>A	ENSP00000273962:p.Pro31Ser	Somatic	0	68	0		0.52429534266604	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	B2R8X7|Q9Y2T9	Missense_Mutation	SNP							pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.P31S	ENST00000273962.3	37	c.91	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	6.513	0.462944	0.12402	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.46063	2.25;2.25;2.25;1.49;0.88	5.65	3.93	0.45458	.	1.818770	0.02563	N	0.097018	T	0.31451	0.0797	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16394	-1.0404	10	0.24483	T	0.36	-0.3638	6.5265	0.22305	0.2149:0.1483:0.6368:0.0	.	31	Q8TBZ6	RG9D2_HUMAN	S	31	ENSP00000378343:P31S;ENSP00000273962:P31S;ENSP00000378342:P31S;ENSP00000397551:P31S;ENSP00000423628:P31S	ENSP00000273962:P31S	P	-	1	0	RG9MTD2	100699428	0.216000	0.23585	0.354000	0.25760	0.391000	0.30476	0.691000	0.25467	1.393000	0.46605	-0.137000	0.14449	CCA	-	pirsf_tRNA_MeTfrase_TRM10		0.378	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	protein_coding	OTTHUMT00000253668.1	G	NM_152292	-		100480405	-1	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	SNP	0.083	A	A	100480405	G	A	100480405	3	1	196	1	0	0	0	0	1	0	0	0	13280	1203	42	2	956	2	RG9MTD2	4	100480405	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	100480405	90673871	672	13944	262	2									
BANK1	55024	genome.wustl.edu	37	chr4	102951401	102951401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatacctccaaaagaggaaActacaccttacatagctcaa	5	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:102951401A>G	ENST00000322953.4	+	10	2153	c.1879A>G	c.(1879-1881)Act>Gct	p.T627A	BANK1_ENST00000428908.1_Missense_Mutation_p.T494A|BANK1_ENST00000504592.1_Missense_Mutation_p.T612A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000444316.2_Missense_Mutation_p.T597A|BANK1_ENST00000508653.1_Missense_Mutation_p.T494A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	627					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAAGAGGAAACTACACCTTA	0.388																																																	0								ENSG00000153064						83	85	84					4																	102951401		2203	4300	6503	BANK1	SO:0001583	missense	0			-	HGNC	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1879A>G	4.37:g.102951401A>G	ENSP00000320509:p.Thr627Ala	Somatic	0	77	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	71	26.04	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.T627A	ENST00000322953.4	37	c.1879	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079480	0.36662	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.86	3.46	0.39613	.	0.353337	0.28322	N	0.015769	T	0.32406	0.0828	N	0.21448	0.665	0.23210	N	0.998111	B;B;B	0.19583	0.037;0.037;0.021	B;B;B	0.19148	0.024;0.024;0.013	T	0.20174	-1.0283	10	0.11182	T	0.66	.	8.1539	0.31156	0.8422:0.0:0.1578:0.0	.	494;627;612	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	A	612;627;494;494;597	ENSP00000421443:T612A;ENSP00000320509:T627A;ENSP00000412748:T494A;ENSP00000422314:T494A;ENSP00000388817:T597A	ENSP00000320509:T627A	T	+	1	0	BANK1	103170424	0.991000	0.36638	0.712000	0.30502	0.933000	0.57130	2.110000	0.41873	0.495000	0.27882	-0.326000	0.08463	ACT	-	NULL		0.388	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	protein_coding	OTTHUMT00000363161.1	A	NM_017935	-		102951401	1	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	SNP	0.916	G	G	102951401	A	G	102951401	3	3	196	1	0	0	0	0	1	0	0	0	1309	43	2	5	1917	5	BANK1	4	102951401	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2470996	102951401	88202875	673	13945											
NHEDC1	150159	genome.wustl.edu	37	chr4	103822399	103822399	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgatcaagatggctaAaaatgctactgtcatcacat	8	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:103822399A>T	ENST00000296422.7	-	12	1564	c.1423T>A	c.(1423-1425)Tta>Ata	p.L475I	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	475					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAGATGGCTAAAAATGCTACT	0.458																																																	0								ENSG00000164037						91	93	92					4																	103822399		2117	4135	6252	SLC9B1	SO:0001583	missense	0			-	HGNC	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1423T>A	4.37:g.103822399A>T	ENSP00000296422:p.Leu475Ile	Somatic	1	514	0.19		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	693	9.04	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP							pfam_Cation/H_exchanger	p.L475I	ENST00000296422.7	37	c.1423	CCDS34041.1	4	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049747	0.55218	.	.	ENSG00000164037	ENST00000296422	T	0.15139	2.45	3.91	-4.9	0.03094	.	0.220594	0.31685	N	0.007228	T	0.33030	0.0849	.	.	.	0.26105	N	0.980763	D	0.65815	0.995	D	0.76575	0.988	T	0.13229	-1.0517	9	0.40728	T	0.16	-8.4575	15.2776	0.73753	0.2146:0.0:0.7854:0.0	.	475	Q4ZJI4	SL9B1_HUMAN	I	475	ENSP00000296422:L475I	ENSP00000296422:L475I	L	-	1	2	SLC9B1	104041848	0.963000	0.33076	0.063000	0.19743	0.951000	0.60555	0.132000	0.15891	-0.888000	0.03956	-0.604000	0.04097	TTA	-	pfam_Cation/H_exchanger		0.458	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	protein_coding	OTTHUMT00000363841.1	A	NM_139173	-		103822399	-1	no_errors	ENST00000296422	ensembl	human	known	74_37	missense	SNP	0.460	T	T	103822399	A	T	103822399	3	4	196	1	0	0	0	0	1	0	0	0	10402	11	1	5	228	5	NHEDC1	4	103822399	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	870998	103822399	87331877	674	13946											
LRIT3	345193	genome.wustl.edu	37	chr4	110790995	110790995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctgaaagaactggagatCatcctgagtgggatgtccag	12	8	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:110790995C>T	ENST00000594814.1	+	4	1090	c.1090C>T	c.(1090-1092)Cat>Tat	p.H364Y	LRIT3_ENST00000379920.3_Missense_Mutation_p.H319Y|LRIT3_ENST00000327908.3_Missense_Mutation_p.H181Y|LRIT3_ENST00000409621.2_Missense_Mutation_p.H181Y	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	364					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AACTGGAGATCATCCTGAGTG	0.473																																																	0								ENSG00000183423						220	204	209					4																	110790995		2203	4300	6503	LRIT3	SO:0001583	missense	0			-	HGNC	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1090C>T	4.37:g.110790995C>T	ENSP00000469759:p.His364Tyr	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	C9J1C2|Q6ZTG1	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H364Y	ENST00000594814.1	37	c.1090	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	C	2.606	-0.291913	0.05568	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57752	0.38;0.57;0.38	4.92	4.06	0.47325	.	1.846370	0.02420	N	0.082480	T	0.40791	0.1131	N	0.22421	0.69	0.09310	N	1	B;P	0.42296	0.386;0.775	B;B	0.34242	0.044;0.178	T	0.41538	-0.9503	10	0.54805	T	0.06	.	9.215	0.37342	0.1292:0.5684:0.3024:0.0	.	319;181	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	Y	181;319;181	ENSP00000328222:H181Y;ENSP00000369252:H319Y;ENSP00000386734:H181Y	ENSP00000328222:H181Y	H	+	1	0	LRIT3	111010444	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	0.619000	0.24388	1.035000	0.39972	0.655000	0.94253	CAT	-	NULL		0.473	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	protein_coding	OTTHUMT00000335270.2	C	NM_198506	-		110790995	1	no_errors	ENST00000594814	ensembl	human	known	74_37	missense	SNP	0.001	T	T	110790995	C	T	110790995	3	4	196	1	0	0	0	0	1	0	0	0	8951	826	29	2	965	2	LRIT3	4	110790995	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6968596	110790995	80363281	675	13947											
EGF	1950	genome.wustl.edu	37	chr4	110880580	110880580	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacgccctaagtcgagaccgGaagtactgtgaaggtaatga	12	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:110880580G>A	ENST00000265171.5	+	6	1498	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Silent_p.R351R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	351	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTCGAGACCGGAAGTACTGTG	0.517																																																	0								ENSG00000138798						140	110	120					4																	110880580		2203	4300	6503	EGF	SO:0001819	synonymous_variant	0			-	HGNC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1053G>A	4.37:g.110880580G>A		Somatic	0	71	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	50	34.21	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP							pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.R351	ENST00000265171.5	37	c.1053	CCDS3689.1	4																																																																																			-	pirsf_Pro-epidermal_GF,smart_EG-like_dom		0.517	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	protein_coding	OTTHUMT00000255065.1	G		-		110880580	1	no_errors	ENST00000265171	ensembl	human	known	74_37	silent	SNP	0.068	A	A	110880580	G	A	110880580	2	1	196	1	0	0	0	0	0	0	0	1	4964	1161	41	2		2	EGF	4	110880580	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	89585	110880580	80273696	676	13948											
C4orf21	55345	genome.wustl.edu	37	chr4	113479385	113479385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgcatttccaatggtggGagcttcactcttttcaaaca	7	11	3	0	rs141009919	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:113479385G>A	ENST00000505019.1	-	20	5166	c.5041C>T	c.(5041-5043)Ccc>Tcc	p.P1681S		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1681						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCAATGGTGGGAGCTTCACTC	0.408																																																	0								ENSG00000138658	G	SER/PRO	11,4395	16.8+/-37.8	0,11,2192	111	115	114		5041	0.9	0	4	dbSNP_134	114	0,8600		0,0,4300	yes	missense	C4orf21	NM_018392.4	74	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	1681/2105	113479385	11,12995	2203	4300	6503	C4orf21	SO:0001583	missense	0			-	HGNC																												ENST00000505019.1:c.5041C>T	4.37:g.113479385G>A	ENSP00000424737:p.Pro1681Ser	Somatic	0	72	0		0.52429534266604	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	64	29.67	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP							pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.P1681S	ENST00000505019.1	37	c.5041		4	.	.	.	.	.	.	.	.	.	.	G	3.333	-0.136263	0.06711	0.002497	0.0	ENSG00000138658	ENST00000505019	D	0.81499	-1.5	5.89	0.862	0.19056	.	1.319920	0.05205	N	0.505653	T	0.66557	0.2801	L	0.28556	0.865	0.09310	N	1	B;B	0.15719	0.014;0.013	B;B	0.11329	0.006;0.005	T	0.43734	-0.9373	10	0.10902	T	0.67	0.1128	4.0579	0.09824	0.138:0.386:0.339:0.137	.	1681;139	G5EA02;B3KQX2	.;.	S	1681	ENSP00000424737:P1681S	ENSP00000404365:P579S	P	-	1	0	C4orf21	113698834	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	0.000000	0.12993	-0.158000	0.11040	0.650000	0.86243	CCC	-	superfamily_P-loop_NTPase		0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	protein_coding	OTTHUMT00000256413.1	G		rs141009919		113479385	-1	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	SNP	0.000	A	A	113479385	G	A	113479385	3	1	196	1	0	0	0	0	1	0	0	0	2256	1174	41	2	1309	2	C4orf21	4	113479385	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2598805	113479385	77674891	677	13949											
C4orf21	55345	genome.wustl.edu	37	chr4	113509018	113509018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagtaataagtggaacCtgggttctacttaataatga	10	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:113509018C>T	ENST00000505019.1	-	12	3320	c.3195G>A	c.(3193-3195)caG>caA	p.Q1065Q		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1065						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAAGTGGAACCTGGGTTCTAC	0.403																																																	0								ENSG00000138658						40	37	38					4																	113509018		692	1591	2283	C4orf21	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000505019.1:c.3195G>A	4.37:g.113509018C>T		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	47	43.37	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP							pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.Q1065	ENST00000505019.1	37	c.3195		4																																																																																			-	NULL		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	protein_coding	OTTHUMT00000256413.1	C		-		113509018	-1	no_errors	ENST00000505019	ensembl	human	known	74_37	silent	SNP	0.000	T	T	113509018	C	T	113509018	2	4	196	1	0	0	0	0	0	0	0	1	2256	680	24	2		2	C4orf21	4	113509018	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	29633	113509018	77645258	678	13950											
ANK2	287	genome.wustl.edu	37	chr4	114262846	114262846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatttattttaataggtTctggctgatagattgtcgac	8	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:114262846T>C	ENST00000357077.4	+	33	3949	c.3896T>C	c.(3895-3897)tTc>tCc	p.F1299S	ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Missense_Mutation_p.F1299S|ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000264366.6_Missense_Mutation_p.F1266S|ANK2_ENST00000509550.1_Missense_Mutation_p.F475S|ANK2_ENST00000506722.1_Missense_Mutation_p.F1290S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1299	UPA domain.				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)		TTTAATAGGTTCTGGCTGATA	0.328																																																	0								ENSG00000145362						96	101	100					4																	114262846		2203	4300	6503	ANK2	SO:0001583	missense	0			-	HGNC	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.3896T>C	4.37:g.114262846T>C	ENSP00000349588:p.Phe1299Ser	Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	57	24.00	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.F1299S	ENST00000357077.4	37	c.3896	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649585	0.87958	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;1.61;1.61;-0.83	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000048	D	0.87896	0.6293	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.995;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.997;0.997;0.962;0.999;0.999	D	0.90089	0.4176	10	0.87932	D	0	.	15.6316	0.76912	0.0:0.0:0.0:1.0	.	475;1266;311;1299;1299;1290	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;ANK2_HUMAN;.;.;.;.	S	1212;1290;345;1314;1299;1299;1266;1290;475	ENSP00000421011:F1212S;ENSP00000421067:F1290S;ENSP00000424722:F1314S;ENSP00000378044:F1299S;ENSP00000349588:F1299S;ENSP00000264366:F1266S;ENSP00000426944:F475S	ENSP00000264366:F1266S	F	+	2	0	ANK2	114482295	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.040000	0.89188	2.091000	0.63221	0.402000	0.26972	TTC	-	NULL		0.328	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	T	NM_001148	-		114262846	1	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	SNP	1.000	C	C	114262846	T	C	114262846	3	2	196	1	0	0	0	0	1	0	0	0	621	1783	62	5	4091	5	ANK2	4	114262846	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	753828	114262846	76891430	679	13951											
ARSJ	79642	genome.wustl.edu	37	chr4	114899666	114899666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctccagtttaactccttCggcagcgagcttgtcaagag	10	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:114899666C>T	ENST00000315366.7	-	1	1191	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E109K|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	109					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 region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTAACTCCTTCGGCAGCGAGC	0.428																																																	0								ENSG00000180801						95	94	95					4																	114899666		1926	4130	6056	ARSJ	SO:0001583	missense	0			-	HGNC		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.325G>A	4.37:g.114899666C>T	ENSP00000320219:p.Glu109Lys	Somatic	0	70	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	48	38.46	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP							pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E109K	ENST00000315366.7	37	c.325	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964216	0.34659	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.97161	-4.27;-4.27	4.34	3.45	0.39498	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.146702	0.45126	D	0.000385	D	0.95095	0.8411	L	0.56124	1.755	0.24495	N	0.994288	B;P	0.37985	0.279;0.613	B;B	0.38458	0.093;0.274	D	0.90694	0.4615	10	0.42905	T	0.14	.	14.2925	0.66289	0.0:0.8363:0.1637:0.0	.	109;109	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	K	109	ENSP00000320219:E109K;ENSP00000438836:E109K	ENSP00000320219:E109K	E	-	1	0	ARSJ	115119115	0.720000	0.27996	0.910000	0.35882	0.986000	0.74619	1.372000	0.34261	2.228000	0.72767	0.655000	0.94253	GAA	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.428	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	protein_coding	OTTHUMT00000363650.1	C	NM_024590	-		114899666	-1	no_errors	ENST00000315366	ensembl	human	known	74_37	missense	SNP	0.353	T	T	114899666	C	T	114899666	3	4	196	1	0	0	0	0	1	0	0	0	995	893	31	1	1482	1	ARSJ	4	114899666	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	636820	114899666	76254610	680	13952											
UGT8	7368	genome.wustl.edu	37	chr4	115544185	115544185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccttgcacgagagaggccAccatacagtgttcctcctct	9	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:115544185A>C	ENST00000310836.6	+	2	671	c.149A>C	c.(148-150)cAc>cCc	p.H50P	UGT8_ENST00000394511.3_Missense_Mutation_p.H50P	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	50					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GAGAGAGGCCACCATACAGTG	0.493																																																	0								ENSG00000174607						100	90	93					4																	115544185		2203	4300	6503	UGT8	SO:0001583	missense	0			-	HGNC	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.149A>C	4.37:g.115544185A>C	ENSP00000311648:p.His50Pro	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	19.77	B3KXU7|O00196	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H50P	ENST00000310836.6	37	c.149	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072993	0.76415	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.10477	2.87;2.87;2.87	5.3	5.3	0.74995	.	0.092424	0.85682	D	0.000000	T	0.42449	0.1203	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54523	-0.8281	10	0.87932	D	0	.	15.5386	0.76021	1.0:0.0:0.0:0.0	.	50	Q16880	CGT_HUMAN	P	50	ENSP00000311648:H50P;ENSP00000421446:H50P;ENSP00000378019:H50P	ENSP00000311648:H50P	H	+	2	0	UGT8	115763634	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.147000	0.94646	2.137000	0.66172	0.528000	0.53228	CAC	-	pfam_UDP_glucos_trans		0.493	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	protein_coding	OTTHUMT00000256426.2	A	NM_003360	-		115544185	1	no_errors	ENST00000310836	ensembl	human	known	74_37	missense	SNP	1.000	C	C	115544185	A	C	115544185	3	2	196	1	0	0	0	0	1	0	0	0	16972	159	6	5	151	5	UGT8	4	115544185	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	644519	115544185	75610091	681	13953											
NDST4	64579	genome.wustl.edu	37	chr4	115856466	115856466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatagtgtgagtgaacaAcccacaagtctgtcgaggga	12	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:115856466A>G	ENST00000264363.2	-	6	2110	c.1432T>C	c.(1432-1434)Ttg>Ctg	p.L478L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	478	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGAGTGAACAACCCACAAGTC	0.398																																																	0								ENSG00000138653						138	139	138					4																	115856466		2203	4300	6503	NDST4	SO:0001819	synonymous_variant	0			-	HGNC	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1432T>C	4.37:g.115856466A>G		Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	59	33.33	Q2KHM8	Silent	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L478	ENST00000264363.2	37	c.1432	CCDS3706.1	4																																																																																			-	pfam_Heparan_SO4_deacetylase		0.398	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	A	NM_022569	-		115856466	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	SNP	0.954	G	G	115856466	A	G	115856466	2	3	196	1	0	0	0	0	0	0	0	1	10260	40	2	5		5	NDST4	4	115856466	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	312281	115856466	75297810	682	13954											
NDST4	64579	genome.wustl.edu	37	chr4	115997550	115997550	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtccagtcttccccaggaaGagggcctttctcaaccttgg	10	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:115997550G>A	ENST00000264363.2	-	2	1321	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	215	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCCCAGGAAGAGGGCCTTTC	0.408																																																	0								ENSG00000138653						73	74	74					4																	115997550		2203	4300	6503	NDST4	SO:0001583	missense	0			-	HGNC	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.643C>T	4.37:g.115997550G>A	ENSP00000264363:p.Leu215Phe	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	Q2KHM8	Missense_Mutation	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L215F	ENST00000264363.2	37	c.643	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551446	0.65311	.	.	ENSG00000138653	ENST00000264363	T	0.42513	0.97	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.91140	3.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.77395	-0.2604	10	0.87932	D	0	.	13.1949	0.59732	0.0762:0.0:0.9238:0.0	.	215	Q9H3R1	NDST4_HUMAN	F	215	ENSP00000264363:L215F	ENSP00000264363:L215F	L	-	1	0	NDST4	116216999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.117000	0.57877	2.437000	0.82529	0.591000	0.81541	CTT	-	pfam_Heparan_SO4_deacetylase		0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	G	NM_022569	-		115997550	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115997550	G	A	115997550	3	1	196	1	0	0	0	0	1	0	0	0	10260	942	33	2	2027	2	NDST4	4	115997550	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	141084	115997550	75156726	683	13955											
PDE5A	8654	genome.wustl.edu	37	chr4	120486517	120486517	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtgaagtctcatagagctGagcattatgaagaacaatac	9	7	1	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:120486517G>T	ENST00000354960.3	-	5	1271	c.952C>A	c.(952-954)Cag>Aag	p.Q318K	PDE5A_ENST00000264805.5_Missense_Mutation_p.Q276K|PDE5A_ENST00000394439.1_Missense_Mutation_p.Q266K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	318					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCATAGAGCTGAGCATTATGA	0.313																																																	0								ENSG00000138735						82	76	78					4																	120486517		2203	4299	6502	PDE5A	SO:0001583	missense	0			-	HGNC	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.952C>A	4.37:g.120486517G>T	ENSP00000347046:p.Gln318Lys	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Q318K	ENST00000354960.3	37	c.952	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896919	0.72639	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.70282	-0.47;-0.47;-0.47	5.56	4.71	0.59529	GAF (1);	0.230621	0.37669	N	0.001981	T	0.77896	0.4199	L	0.48362	1.52	0.80722	D	1	P;D	0.61080	0.739;0.989	B;P	0.62014	0.348;0.897	T	0.79075	-0.1952	10	0.51188	T	0.08	.	15.6765	0.77332	0.0:0.0:0.8615:0.1385	.	318;276	O76074;O76074-2	PDE5A_HUMAN;.	K	318;266;276	ENSP00000347046:Q318K;ENSP00000377957:Q266K;ENSP00000264805:Q276K	ENSP00000264805:Q276K	Q	-	1	0	PDE5A	120705965	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	7.196000	0.77805	1.458000	0.47871	-0.293000	0.09583	CAG	-	smart_GAF		0.313	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	protein_coding	OTTHUMT00000256529.1	G	NM_001083	-		120486517	-1	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120486517	G	T	120486517	3	4	196	1	0	0	0	0	1	0	0	0	11646	1299	45	3	1743	3	PDE5A	4	120486517	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4488967	120486517	70667759	684	13956											
TRPC3	7222	genome.wustl.edu	37	chr4	122836087	122836087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgctgctggcagttggGatgagccacaaactattggg	15	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:122836087G>A	ENST00000379645.3	-	4	1262	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	TRPC3_ENST00000264811.5_Missense_Mutation_p.P324S|TRPC3_ENST00000513531.1_Intron	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	312					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGCAGTTGGGATGAGCCACA	0.473																																																	0								ENSG00000138741						81	64	70					4																	122836087		2203	4300	6503	TRPC3	SO:0001583	missense	0			-	HGNC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1189C>T	4.37:g.122836087G>A	ENSP00000368966:p.Pro397Ser	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	59	15.71	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P397S	ENST00000379645.3	37	c.1189	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024792	0.93518	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.76709	-1.04;-1.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.88089	0.6343	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.927;1.0	D	0.86627	0.1883	10	0.38643	T	0.18	1.5248	19.3937	0.94596	0.0:0.0:1.0:0.0	.	312;397	Q13507;Q5G1L5	TRPC3_HUMAN;.	S	324;397	ENSP00000264811:P324S;ENSP00000368966:P397S	ENSP00000264811:P324S	P	-	1	0	TRPC3	123055537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.753000	0.98904	2.586000	0.87340	0.655000	0.94253	CCC	-	tigrfam_TRP_channel		0.473	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	protein_coding	OTTHUMT00000364252.1	G	NM_003305	-		122836087	-1	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122836087	G	A	122836087	3	1	196	1	0	0	0	0	1	0	0	0	16586	1174	41	2	1612	2	TRPC3	4	122836087	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2349570	122836087	68318189	685	13957											
ADAD1	132612	genome.wustl.edu	37	chr4	123302156	123302156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttttaggtaattttcCagagccgttgctttccaaga	8	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:123302156C>T	ENST00000296513.2	+	4	367	c.182C>T	c.(181-183)cCa>cTa	p.P61L	ADAD1_ENST00000388725.2_Missense_Mutation_p.P43L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.P61L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	61					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTAATTTTCCAGAGCCGTTG	0.328																																																	0								ENSG00000164113						57	60	59					4																	123302156		2201	4300	6501	ADAD1	SO:0001583	missense	0			-	HGNC	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.182C>T	4.37:g.123302156C>T	ENSP00000296513:p.Pro61Leu	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	79	37.30	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.P61L	ENST00000296513.2	37	c.182	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199687	0.38905	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.35973	1.3;1.31;1.28	5.23	5.23	0.72850	.	0.099764	0.44688	D	0.000425	T	0.41673	0.1169	L	0.29908	0.895	0.51482	D	0.99992	P;P	0.49783	0.928;0.881	P;P	0.52481	0.7;0.504	T	0.29882	-0.9997	10	0.54805	T	0.06	-16.2583	17.5703	0.87933	0.0:1.0:0.0:0.0	.	61;61	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	61;61;61;61;43	ENSP00000296513:P61L;ENSP00000373376:P61L;ENSP00000373377:P43L	ENSP00000296513:P61L	P	+	2	0	ADAD1	123521606	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.641000	0.46587	2.423000	0.82170	0.563000	0.77884	CCA	-	NULL		0.328	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	protein_coding	OTTHUMT00000316452.1	C	NM_139243	-		123302156	1	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123302156	C	T	123302156	3	4	196	1	0	0	0	0	1	0	0	0	231	594	21	2	188	2	ADAD1	4	123302156	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	466069	123302156	67852120	686	13958											
PCDH10	57575	genome.wustl.edu	37	chr4	134071955	134071955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagggggaggtggcggGggagcaggcctgccccccca	21	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:134071955G>A	ENST00000264360.5	+	1	1486	c.660G>A	c.(658-660)ggG>ggA	p.G220G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	220	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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gaggtggcgggggagcaggCC	0.682																																																	0								ENSG00000138650						35	37	36					4																	134071955		2203	4296	6499	PCDH10	SO:0001819	synonymous_variant	0			-	HGNC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.660G>A	4.37:g.134071955G>A		Somatic	0	22	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q4W5F6|Q96SF0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G220	ENST00000264360.5	37	c.660	CCDS34063.1	4																																																																																			-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	protein_coding	OTTHUMT00000364457.2	G	NM_032961	-		134071955	1	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	SNP	0.894	A	A	134071955	G	A	134071955	2	1	196	1	0	0	0	0	0	0	0	1	11509	1219	43	2		2	PCDH10	4	134071955	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10769799	134071955	57082321	687	13959											
ELMOD2	255520	genome.wustl.edu	37	chr4	141446625	141446625	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttctatgggcacttttttCgattttggatgaaatggcta	9	6	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:141446625C>T	ENST00000323570.3	+	2	175	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ELMOD2_ENST00000511887.2_Nonsense_Mutation_p.R15*	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	15					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GCACTTTTTTCGATTTTGGAT	0.383																																																	0								ENSG00000179387						124	128	126					4																	141446625		2203	4300	6503	ELMOD2	SO:0001587	stop_gained	0			-	HGNC	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"ELMO domain containing 2"			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.43C>T	4.37:g.141446625C>T	ENSP00000326342:p.Arg15*	Somatic	0	74	0		0.52429534266604	5	54.55	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	66	27.47	B2R712|D3DNZ0	Nonsense_Mutation	SNP							pfam_Engulfment_cell_motility_ELMO	p.R15*	ENST00000323570.3	37	c.43	CCDS3752.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.869309	0.97049	.	.	ENSG00000179387	ENST00000323570;ENST00000507667;ENST00000502397	.	.	.	5.0	5.0	0.66597	.	0.062815	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2208	17.1017	0.86652	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000326342:R15X	R	+	1	2	ELMOD2	141666075	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.652000	0.46682	2.313000	0.78055	0.561000	0.74099	CGA	-	NULL		0.383	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	protein_coding	OTTHUMT00000257277.2	C	NM_153702	-		141446625	1	no_errors	ENST00000323570	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	141446625	C	T	141446625	4	4	196	1	0	0	0	0	0	1	0	0	5071	876	31	1	45	1	ELMOD2	4	141446625	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7374670	141446625	49707651	688	13960											
HHIP	64399	genome.wustl.edu	37	chr4	145633172	145633172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcagactccaatggaAaaaacagatcatcagccaga	8	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:145633172A>C	ENST00000296575.3	+	8	2027	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	458					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCCAATGGAAAAAACAGATC	0.348																																																	0								ENSG00000164161						142	139	140					4																	145633172		2203	4300	6503	HHIP	SO:0001583	missense	0			-	HGNC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1372A>C	4.37:g.145633172A>C	ENSP00000296575:p.Lys458Gln	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	46	36.99	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP							pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.K458Q	ENST00000296575.3	37	c.1372	CCDS3762.1	4	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094167	0.36952	.	.	ENSG00000164161	ENST00000296575	T	0.05319	3.46	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	N	0.10782	0.045	0.80722	D	1	P	0.47106	0.89	B	0.35182	0.197	T	0.56335	-0.7996	10	0.36615	T	0.2	-23.9715	16.0466	0.80724	1.0:0.0:0.0:0.0	.	458	Q96QV1	HHIP_HUMAN	Q	458	ENSP00000296575:K458Q	ENSP00000296575:K458Q	K	+	1	0	HHIP	145852622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.775000	0.75018	2.182000	0.69389	0.533000	0.62120	AAA	-	NULL		0.348	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	protein_coding	OTTHUMT00000364887.2	A		-		145633172	1	no_errors	ENST00000296575	ensembl	human	known	74_37	missense	SNP	1.000	C	C	145633172	A	C	145633172	3	2	196	1	0	0	0	0	1	0	0	0	7094	15	1	5	1402	5	HHIP	4	145633172	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	4186547	145633172	45521104	689	13961											
DCLK2	166614	genome.wustl.edu	37	chr4	151153862	151153862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctttgatgcaattacttCgtcgaccaagtacactgaga	7	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:151153862C>T	ENST00000296550.7	+	10	2202	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	DCLK2_ENST00000302176.8_Missense_Mutation_p.S500L|DCLK2_ENST00000506325.1_Missense_Mutation_p.S482L	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S500L(1)|p.S483L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCAATTACTTCGTCGACCAAG	0.448																																					GBM(195;186 2215 13375 16801 37459)												2	Substitution - Missense(2)	prostate(2)						ENSG00000170390						242	213	223					4																	151153862		2203	4300	6503	DCLK2	SO:0001583	missense	0			-	HGNC	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1448C>T	4.37:g.151153862C>T	ENSP00000296550:p.Ser483Leu	Somatic	0	52	0		0.52429534266604	4	50	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S500L	ENST00000296550.7	37	c.1499	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877174	0.91664	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.66460	-0.21;-0.21;-0.21	6.02	6.02	0.97574	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	0.75774	0.3895	L	0.42487	1.325	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.978	P;P;P	0.59546	0.8;0.859;0.75	T	0.75462	-0.3309	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	500;482;483	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	L	483;482;500	ENSP00000296550:S483L;ENSP00000427235:S482L;ENSP00000303887:S500L	ENSP00000296550:S483L	S	+	2	0	DCLK2	151373312	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.025000	0.70864	2.865000	0.98341	0.655000	0.94253	TCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.448	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	protein_coding	OTTHUMT00000364952.1	C	NM_001040260	-		151153862	1	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151153862	C	T	151153862	3	4	196	1	0	0	0	0	1	0	0	0	4294	893	31	1	1486	1	DCLK2	4	151153862	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5520690	151153862	40000414	690	13962											
LRBA	987	genome.wustl.edu	37	chr4	151773285	151773285	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatttgggaaacagtagtttCtggtgacatagctgaagacc	11	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:151773285C>T	ENST00000357115.3	-	23	3820	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K	LRBA_ENST00000507224.1_Missense_Mutation_p.E1193K|LRBA_ENST00000535741.1_Missense_Mutation_p.E1193K|LRBA_ENST00000510413.1_Missense_Mutation_p.E1193K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1193						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)					ACAGTAGTTTCTGGTGACATA	0.388																																																	0								ENSG00000198589						96	94	95					4																	151773285		2203	4300	6503	LRBA	SO:0001583	missense	0			-	HGNC	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.3577G>A	4.37:g.151773285C>T	ENSP00000349629:p.Glu1193Lys	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.E1193K	ENST00000357115.3	37	c.3577	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153607	0.57259	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.55588	0.93;1.08;0.93;0.51	5.58	5.58	0.84498	.	0.936623	0.08957	N	0.869169	T	0.39600	0.1084	N	0.08118	0	0.45216	D	0.998229	B;B	0.30361	0.181;0.277	B;B	0.29077	0.045;0.098	T	0.29366	-1.0014	10	0.26408	T	0.33	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	1193;1193	P50851;P50851-2	LRBA_HUMAN;.	K	1193	ENSP00000446299:E1193K;ENSP00000421552:E1193K;ENSP00000349629:E1193K;ENSP00000422180:E1193K	ENSP00000349629:E1193K	E	-	1	0	LRBA	151992735	1.000000	0.71417	0.041000	0.18516	0.697000	0.40408	3.434000	0.52841	2.789000	0.95967	0.591000	0.81541	GAA	-	NULL		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	C		-		151773285	-1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	SNP	0.977	T	T	151773285	C	T	151773285	3	4	196	1	0	0	0	0	1	0	0	0	8933	922	32	2	5158	2	LRBA	4	151773285	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	619423	151773285	39380991	691	13963											
DCHS2	54798	genome.wustl.edu	37	chr4	155411865	155411865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaacgggcctgcggggtCcttgggcaggtcggacggtt	19	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:155411865C>T	ENST00000339452.1	-	1	1003	c.643G>A	c.(643-645)Gac>Aac	p.D215N	DCHS2_ENST00000456341.2_Missense_Mutation_p.D208N|DCHS2_ENST00000443500.1_Missense_Mutation_p.D215N	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1418	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)			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)		CCTGCGGGGTCCTTGGGCAGG	0.667																																																	0								ENSG00000197410						43	52	50					4																	155411865		692	1591	2283	DCHS2	SO:0001583	missense	0			-	HGNC	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		ENST00000339452.1:c.643G>A	4.37:g.155411865C>T	ENSP00000345062:p.Asp215Asn	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	90	29.69	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D215N	ENST00000339452.1	37	c.643	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	C	5.600	0.295391	0.10622	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.59638	0.35;0.25;0.27	3.95	2.2	0.27929	.	.	.	.	.	T	0.37156	0.0993	N	0.12746	0.255	0.09310	N	0.999998	B;B	0.14438	0.01;0.007	B;B	0.12837	0.008;0.006	T	0.25779	-1.0122	9	0.44086	T	0.13	.	8.6164	0.33833	0.0:0.8031:0.0:0.1969	.	215;215	E9PG03;E9PC11	.;.	N	215;215;208;215	ENSP00000345062:D215N;ENSP00000408543:D208N;ENSP00000395539:D215N	ENSP00000345062:D215N	D	-	1	0	DCHS2	155631315	0.950000	0.32346	0.563000	0.28383	0.010000	0.07245	1.631000	0.37092	1.010000	0.39314	0.462000	0.41574	GAC	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365282.1	C	NM_001142552	-		155411865	-1	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	SNP	0.837	T	T	155411865	C	T	155411865	3	4	196	1	0	0	0	0	1	0	0	0	4290	855	30	2	10441	2	DCHS2	4	155411865	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3638580	155411865	35742411	692	13964											
MAP9	79884	genome.wustl.edu	37	chr4	156269048	156269048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaattctttcttgtttttCcttattttcctaaagagaaa	3	7	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:156269048C>T	ENST00000311277.4	-	14	2094	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	AC097467.2_ENST00000593486.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000597955.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000595229.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.E587K|AC097467.2_ENST00000512269.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000595760.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000609254.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	611					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCTTGTTTTTCCTTATTTTCC	0.343																																																	0								ENSG00000164114						72	69	70					4																	156269048		2200	4297	6497	MAP9	SO:0001583	missense	0			-	HGNC	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1831G>A	4.37:g.156269048C>T	ENSP00000310593:p.Glu611Lys	Somatic	0	43	0		0.52429534266604	9	50	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP							NULL	p.E611K	ENST00000311277.4	37	c.1831	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853912	0.71719	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.20598	2.06;2.1	5.72	5.72	0.89469	.	0.114454	0.64402	D	0.000018	T	0.36908	0.0984	L	0.52364	1.645	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.64321	0.924;0.924	T	0.03384	-1.1042	10	0.87932	D	0	-30.1356	11.2036	0.48756	0.0:0.9161:0.0:0.0839	.	586;611	B4DVG9;Q49MG5	.;MAP9_HUMAN	K	611;587	ENSP00000310593:E611K;ENSP00000427402:E587K	ENSP00000310593:E611K	E	-	1	0	MAP9	156488498	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	2.995000	0.49441	2.865000	0.98341	0.655000	0.94253	GAA	-	NULL		0.343	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	protein_coding	OTTHUMT00000257771.3	C	NM_001039580	-		156269048	-1	no_errors	ENST00000311277	ensembl	human	known	74_37	missense	SNP	1.000	T	T	156269048	C	T	156269048	3	4	196	1	0	0	0	0	1	0	0	0	9272	864	30	2	116	2	MAP9	4	156269048	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	857183	156269048	34885228	693	13965											
GUCY1B3	2983	genome.wustl.edu	37	chr4	156698696	156698696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcaatgctggagaaatcCtccaaatgtttgggaagatg	10	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:156698696C>T	ENST00000264424.8	+	4	281	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.L67F|GUCY1B3_ENST00000505154.1_5'UTR|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.L47F|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.L67F|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000507146.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	67					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TGGAGAAATCCTCCAAATGTT	0.338																																																	0								ENSG00000061918						148	136	140					4																	156698696		1823	4076	5899	GUCY1B3	SO:0001583	missense	0			-	HGNC	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.199C>T	4.37:g.156698696C>T	ENSP00000264424:p.Leu67Phe	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	57	28.75	B7Z426|Q86WY5	Missense_Mutation	SNP							pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L67F	ENST00000264424.8	37	c.199	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935572	0.73442	.	.	ENSG00000061918	ENST00000502959;ENST00000505764;ENST00000264424;ENST00000503520	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.11	5.11	0.69529	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.069687	0.64402	D	0.000019	T	0.72153	0.3425	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;D	0.97110	1.0;1.0;1.0;0.951	T	0.73717	-0.3895	10	0.44086	T	0.13	.	18.9056	0.92460	0.0:1.0:0.0:0.0	.	47;67;67;67	B7Z426;E9PCN2;Q02153-2;Q02153	.;.;.;GCYB1_HUMAN	F	67;47;67;67	ENSP00000426786:L67F;ENSP00000426319:L47F;ENSP00000264424:L67F;ENSP00000420842:L67F	ENSP00000264424:L67F	L	+	1	0	GUCY1B3	156918146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.603000	0.54074	2.540000	0.85666	0.591000	0.81541	CTC	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd		0.338	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	protein_coding	OTTHUMT00000365770.2	C		-		156698696	1	no_errors	ENST00000264424	ensembl	human	known	74_37	missense	SNP	1.000	T	T	156698696	C	T	156698696	3	4	196	1	0	0	0	0	1	0	0	0	6897	681	24	2	213	2	GUCY1B3	4	156698696	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	429648	156698696	34455580	694	13966											
GUCY1B3	2983	genome.wustl.edu	37	chr4	156724875	156724875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggccttggacatgatgGaaattgctggccaggttcaa	12	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:156724875G>A	ENST00000264424.8	+	11	1595	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E472K|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E437K|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E485K|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E527K|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E437K|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E480K	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	505	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGACATGATGGAAATTGCTGG	0.423																																																	0								ENSG00000061918						76	78	78					4																	156724875		1950	4158	6108	GUCY1B3	SO:0001583	missense	0			-	HGNC	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1513G>A	4.37:g.156724875G>A	ENSP00000264424:p.Glu505Lys	Somatic	0	49	0		0.52429534266604	10	54.55	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	B7Z426|Q86WY5	Missense_Mutation	SNP							pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E505K	ENST00000264424.8	37	c.1513	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043880	0.75732	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.28608	0.87	0.80722	D	1	B;B;B;B;B	0.19073	0.033;0.007;0.026;0.026;0.005	B;B;B;B;B	0.21546	0.032;0.011;0.035;0.019;0.02	T	0.66304	-0.5957	10	0.12766	T	0.61	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	485;527;480;472;505	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	K	437;527;485;480;505;472;437	ENSP00000427226:E437K;ENSP00000426786:E527K;ENSP00000426319:E485K;ENSP00000422313:E480K;ENSP00000264424:E505K;ENSP00000420842:E472K;ENSP00000425065:E437K	ENSP00000264424:E505K	E	+	1	0	GUCY1B3	156944325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.805000	0.99149	2.793000	0.96121	0.655000	0.94253	GAA	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.423	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	protein_coding	OTTHUMT00000365770.2	G		-		156724875	1	no_errors	ENST00000264424	ensembl	human	known	74_37	missense	SNP	1.000	A	A	156724875	G	A	156724875	3	1	196	1	0	0	0	0	1	0	0	0	6897	1175	41	2	1555	2	GUCY1B3	4	156724875	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	26179	156724875	34429401	695	13967											
RXFP1	59350	genome.wustl.edu	37	chr4	159568146	159568146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatacatctgcattgtctatCcttttagatgtgtgagacct	7	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:159568146C>T	ENST00000307765.5	+	16	1800	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	RXFP1_ENST00000460056.2_Missense_Mutation_p.P436S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P484S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P412S|RXFP1_ENST00000343542.5_Missense_Mutation_p.P469S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATG	0.358																																																	0								ENSG00000171509						126	115	119					4																	159568146		1858	4106	5964	RXFP1	SO:0001583	missense	0			-	HGNC	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1549C>T	4.37:g.159568146C>T	ENSP00000303248:p.Pro517Ser	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	35	36.84	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.P517S	ENST00000307765.5	37	c.1549	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.159482	0.94686	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.92833	3.35	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;0.999	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;0.999;0.999;0.993	D	0.86194	0.1614	10	0.72032	D	0.01	.	19.9294	0.97114	0.0:1.0:0.0:0.0	.	528;544;412;469;484;436;387;517	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	S	436;517;412;469;484;387	ENSP00000423306:P436S;ENSP00000303248:P517S;ENSP00000414885:P412S;ENSP00000345889:P469S;ENSP00000420712:P484S	ENSP00000303248:P517S	P	+	1	0	RXFP1	159787596	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.701000	0.92244	0.650000	0.86243	CCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.358	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	protein_coding	OTTHUMT00000314865.1	C	NM_021634	-		159568146	1	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	SNP	1.000	T	T	159568146	C	T	159568146	3	4	196	1	0	0	0	0	1	0	0	0	13767	855	30	2	1611	2	RXFP1	4	159568146	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2843271	159568146	31586130	696	13968											
FSTL5	56884	genome.wustl.edu	37	chr4	162307514	162307514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaacgcacttatagtcCttcaagttaattgtcttgat	8	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:162307514C>T	ENST00000306100.5	-	16	2365	c.1929G>A	c.(1927-1929)aaG>aaA	p.K643K	FSTL5_ENST00000379164.4_Silent_p.K642K|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.K633K|FSTL5_ENST00000536695.1_Silent_p.K642K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	643						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTTATAGTCCTTCAAGTTAA	0.403																																																	0								ENSG00000168843						77	71	73					4																	162307514		2203	4300	6503	FSTL5	SO:0001819	synonymous_variant	0			-	HGNC	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1929G>A	4.37:g.162307514C>T		Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP							pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.K643	ENST00000306100.5	37	c.1929	CCDS3802.1	4																																																																																			-	NULL		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	protein_coding	OTTHUMT00000364773.2	C	NM_020116	-		162307514	-1	no_errors	ENST00000306100	ensembl	human	known	74_37	silent	SNP	1.000	T	T	162307514	C	T	162307514	2	4	196	1	0	0	0	0	0	0	0	1	6082	680	24	2		2	FSTL5	4	162307514	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2739368	162307514	28846762	697	13969											
TMEM192	201931	genome.wustl.edu	37	chr4	166006749	166006749	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatcttacctgaatccagtCtccgaggtaatattgctggg	9	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:166006749C>T	ENST00000306480.6	-	5	811	c.666G>A	c.(664-666)gaG>gaA	p.E222E	TMEM192_ENST00000506087.1_Silent_p.E218E	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	222						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TGAATCCAGTCTCCGAGGTAA	0.333																																																	0								ENSG00000170088						93	88	89					4																	166006749		1795	4064	5859	TMEM192	SO:0001819	synonymous_variant	0			-	HGNC	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.666G>A	4.37:g.166006749C>T		Somatic	0	93	0		0.52429534266604	12	40	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	63	32.98	Q7Z3A1|Q8N928	Silent	SNP							NULL	p.E222	ENST00000306480.6	37	c.666	CCDS43279.1	4																																																																																			-	NULL		0.333	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM192	protein_coding	OTTHUMT00000364310.3	C	NM_152681	-		166006749	-1	no_errors	ENST00000306480	ensembl	human	known	74_37	silent	SNP	1.000	T	T	166006749	C	T	166006749	2	4	196	1	0	0	0	0	0	0	0	1	16122	912	32	2		2	TMEM192	4	166006749	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3699235	166006749	25147527	698	13970											
SPOCK3	50859	genome.wustl.edu	37	chr4	167675837	167675837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtctgttaaacatccaGccaagtgagtccttgcaaat	7	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:167675837G>A	ENST00000357154.3	-	9	899	c.762C>T	c.(760-762)ggC>ggT	p.G254G	SPOCK3_ENST00000504953.1_Silent_p.G251G|SPOCK3_ENST00000541637.1_Silent_p.G156G|SPOCK3_ENST00000511269.1_Silent_p.G251G|SPOCK3_ENST00000535728.1_Silent_p.G122G|SPOCK3_ENST00000510741.1_Silent_p.G211G|SPOCK3_ENST00000357545.4_Silent_p.G251G|SPOCK3_ENST00000541354.1_Silent_p.G134G|SPOCK3_ENST00000534949.1_Silent_p.G158G|SPOCK3_ENST00000421836.2_Silent_p.G203G|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.G156G|SPOCK3_ENST00000502330.1_Silent_p.G254G|SPOCK3_ENST00000511531.1_Silent_p.G254G|SPOCK3_ENST00000506886.1_Silent_p.G254G|SPOCK3_ENST00000512648.1_Silent_p.G251G	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	254					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TAAACATCCAGCCAAGTGAGT	0.378																																																	0								ENSG00000196104						151	139	143					4																	167675837		2203	4300	6503	SPOCK3	SO:0001819	synonymous_variant	0			-	HGNC	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.762C>T	4.37:g.167675837G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP							pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G254	ENST00000357154.3	37	c.762	CCDS54817.1	4																																																																																			-	pfam_SPARC/Testican_Ca-bd-dom		0.378	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	protein_coding	OTTHUMT00000364091.1	G		-		167675837	-1	no_errors	ENST00000357154	ensembl	human	known	74_37	silent	SNP	0.957	A	A	167675837	G	A	167675837	2	1	196	1	0	0	0	0	0	0	0	1	15088	958	34	2		2	SPOCK3	4	167675837	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1669088	167675837	23478439	699	13971											
DDX60L	91351	genome.wustl.edu	37	chr4	169327143	169327143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaatttgtcaattctgcCtttaagttttcttcatattt	3	8	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:169327143C>T	ENST00000511577.1	-	24	3418	c.3171G>A	c.(3169-3171)aaG>aaA	p.K1057K	DDX60L_ENST00000505890.1_Silent_p.K1057K|DDX60L_ENST00000260184.7_Silent_p.K1057K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1057							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAATTCTGCCTTTAAGTTTT	0.323																																																	0								ENSG00000181381						128	112	117					4																	169327143		1836	4120	5956	DDX60L	SO:0001819	synonymous_variant	0			-	HGNC	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3171G>A	4.37:g.169327143C>T		Somatic	0	90	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	60	44.44	Q96ND6	Silent	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1057	ENST00000511577.1	37	c.3171		4																																																																																			-	superfamily_P-loop_NTPase		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	protein_coding	OTTHUMT00000364839.1	C	NM_001012967	-		169327143	-1	no_errors	ENST00000260184	ensembl	human	known	74_37	silent	SNP	0.998	T	T	169327143	C	T	169327143	2	4	196	1	0	0	0	0	0	0	0	1	4381	680	24	2		2	DDX60L	4	169327143	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1651306	169327143	21827133	700	13972											
CLCN3	1182	genome.wustl.edu	37	chr4	170628344	170628344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccagctacaatggattTcctgtcataatgtcaaaaga	7	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:170628344T>C	ENST00000513761.1	+	11	2635	c.2076T>C	c.(2074-2076)ttT>ttC	p.F692F	CLCN3_ENST00000360642.3_Silent_p.F665F|CLCN3_ENST00000347613.4_Silent_p.F692F|CLCN3_ENST00000504131.2_Silent_p.F675F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	692	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACAATGGATTTCCTGTCATAA	0.383																																																	0								ENSG00000109572						111	118	115					4																	170628344		2203	4300	6503	CLCN3	SO:0001819	synonymous_variant	0			-	HGNC	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2076T>C	4.37:g.170628344T>C		Somatic	0	71	0		0.52429534266604	13	23.53	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	72	36.84	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.F692	ENST00000513761.1	37	c.2076	CCDS34101.1	4																																																																																			-	pfam_CBS_dom,smart_CBS_dom		0.383	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	protein_coding	OTTHUMT00000363210.2	T		-		170628344	1	no_errors	ENST00000347613	ensembl	human	known	74_37	silent	SNP	1.000	C	C	170628344	T	C	170628344	2	2	196	1	0	0	0	0	0	0	0	1	3466	1780	62	5		5	CLCN3	4	170628344	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1301201	170628344	20525932	701	13973											
GALNTL6	442117	genome.wustl.edu	37	chr4	173269726	173269726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacaccagcatcattatcCcatttcataatgaaggttgg	6	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:173269726C>T	ENST00000506823.1	+	5	1096	c.439C>T	c.(439-441)Cca>Tca	p.P147S	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.P130S	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	147	Catalytic subdomain A.				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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCATTATCCCATTTCATAA	0.413																																																	0								ENSG00000174473						145	135	139					4																	173269726		2203	4300	6503	GALNTL6	SO:0001583	missense	0			-	HGNC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.439C>T	4.37:g.173269726C>T	ENSP00000423313:p.Pro147Ser	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	66	22.35	Q2L4S6	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P147S	ENST00000506823.1	37	c.439	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546710	0.65198	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	Glycosyl transferase, family 2 (1);	0.466085	0.16013	N	0.233712	D	0.86497	0.5947	M	0.86178	2.8	0.48341	D	0.999637	D	0.89917	1.0	D	0.97110	1.0	D	0.86649	0.1897	10	0.49607	T	0.09	.	18.8064	0.92038	0.0:1.0:0.0:0.0	.	147	Q49A17	GLTL6_HUMAN	S	147;147;130	ENSP00000423313:P147S;ENSP00000423827:P130S	ENSP00000385382:P147S	P	+	1	0	GALNTL6	173506301	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.962000	0.56766	2.451000	0.82905	0.467000	0.42956	CCA	-	pfam_Glyco_trans_2		0.413	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	C	NM_001034845	-		173269726	1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	SNP	1.000	T	T	173269726	C	T	173269726	3	4	196	1	0	0	0	0	1	0	0	0	6227	623	22	2	453	2	GALNTL6	4	173269726	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2641382	173269726	17884550	702	13974											
GLRA3	8001	genome.wustl.edu	37	chr4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catccatgttgatccagaatGaaacccaggatagaataaca	7	9	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GATCCAGAATGAAACCCAGGA	0.478																																																	0								ENSG00000145451						113	100	105					4																	175598335		2203	4300	6503	GLRA3	SO:0001583	missense	0			-	HGNC	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.821C>T	4.37:g.175598335G>A	ENSP00000274093:p.Ser274Leu	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.S274L	ENST00000274093.3	37	c.821	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.325080	0.95708	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.87887	-2.31;-2.31	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.96243	0.9177	10	0.87932	D	0	.	19.5178	0.95171	0.0:0.0:1.0:0.0	.	274;274	O75311-2;O75311	.;GLRA3_HUMAN	L	274	ENSP00000274093:S274L;ENSP00000345284:S274L	ENSP00000274093:S274L	S	-	2	0	GLRA3	175834910	1.000000	0.71417	0.961000	0.40146	0.842000	0.47809	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	TCA	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.478	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	protein_coding	OTTHUMT00000313427.1	G		-		175598335	-1	no_errors	ENST00000274093	ensembl	human	known	74_37	missense	SNP	1.000	A	A	175598335	G	A	175598335	3	1	196	1	0	0	0	0	1	0	0	0	6458	1294	45	2	589	2	GLRA3	4	175598335	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2328609	175598335	15555941	703	13975											
SNX25	83891	genome.wustl.edu	37	chr4	186231899	186231899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaagagaatccgaatcCtgggaggccctgcctatgac	13	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:186231899C>T	ENST00000504273.1	+	7	1075	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	SNX25_ENST00000264694.8_Silent_p.L261L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	261					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATCCGAATCCTGGGAGGCCC	0.517																																																	0								ENSG00000109762						50	50	50					4																	186231899		2203	4300	6503	SNX25	SO:0001819	synonymous_variant	0			-	HGNC	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.781C>T	4.37:g.186231899C>T		Somatic	0	72	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	110	16.03	Q3ZT30|Q8N6K3	Silent	SNP							pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.L261	ENST00000504273.1	37	c.781	CCDS34116.1	4																																																																																			-	NULL		0.517	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	protein_coding	OTTHUMT00000360756.1	C	NM_031953	-		186231899	1	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	SNP	1.000	T	T	186231899	C	T	186231899	2	4	196	1	0	0	0	0	0	0	0	1	14904	680	24	2		2	SNX25	4	186231899	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	10633564	186231899	4922377	704	13976											
FAT1	2195	genome.wustl.edu	37	chr4	187524966	187524966	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagtatcatacacgtcctGgtctgtggcatggatcttcc	10	10	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:187524966G>A	ENST00000441802.2	-	19	10923	c.10714C>T	c.(10714-10716)Cag>Tag	p.Q3572*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3572	Cadherin 33. {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						TACACGTCCTGGTCTGTGGCA	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						114	113	113					4																	187524966		2014	4184	6198	FAT1	SO:0001587	stop_gained	0			-	HGNC	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.10714C>T	4.37:g.187524966G>A	ENSP00000406229:p.Gln3572*	Somatic	0	49	0		0.52429534266604	12	25	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	49	28.99		Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Q3572*	ENST00000441802.2	37	c.10714	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	52	18.873879	0.99911	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	18.6333	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	3572;3574	.	ENSP00000260147:Q3574X	Q	-	1	0	FAT1	187761960	1.000000	0.71417	0.982000	0.44146	0.239000	0.25481	7.709000	0.84645	2.636000	0.89361	0.563000	0.77884	CAG	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187524966	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	187524966	G	A	187524966	4	1	196	1	0	0	0	0	0	1	0	0	5691	1357	47	2	3088	2	FAT1	4	187524966	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1293067	187524966	3629310	705	13977											
ZDHHC11	79844	genome.wustl.edu	37	chr5	843755	843755	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagcaccccggggttcacGaggtactggacgaggacata	15	11	1	0	rs140537102	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:843755G>A	ENST00000283441.8	-	4	971	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000424784.2_Silent_p.L196L|ZDHHC11_ENST00000511539.1_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			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)			CGGGGTTCACGAGGTACTGGA	0.642													g|||	2	0.000399361	0	0	5008	,	,		17077	0.002		0	False		,,,				2504	0																0								ENSG00000188818	G		1,4399	2.1+/-5.4	0,1,2199	79	61	67		588	-8	0	5	dbSNP_134	67	0,8578		0,0,4289	no	coding-synonymous	ZDHHC11	NM_024786.2		0,1,6488	AA,AG,GG		0.0,0.0227,0.0077		196/413	843755	1,12977	2200	4289	6489	ZDHHC11	SO:0001819	synonymous_variant	0			-	HGNC	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.588C>T	5.37:g.843755G>A		Somatic	0	256	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	347	11.70	Q6UWR9	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L196	ENST00000283441.8	37	c.588	CCDS3857.1	5																																																																																			-	NULL		0.642	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	protein_coding	OTTHUMT00000206681.3	G	NM_024786	rs140537102		843755	-1	no_errors	ENST00000283441	ensembl	human	known	74_37	silent	SNP	0.000	A	A	843755	G	A	843755	2	1	196	1	0	0	0	0	0	0	0	1	17608	1045	37	1		1	ZDHHC11	5	843755	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		843755	180071505	706	13978											
MTRR	4552	genome.wustl.edu	37	chr5	7892992	7892992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagccaaacatacatgcatCccatgaagacagcgggaaag	9	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:7892992C>T	ENST00000264668.2	+	11	1634	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	MTRR_ENST00000440940.2_Missense_Mutation_p.S508F	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	535	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATACATGCATCCCATGAAGAC	0.448																																																	0								ENSG00000124275						103	86	92					5																	7892992		2203	4300	6503	MTRR	SO:0001583	missense	0			-	HGNC	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1604C>T	5.37:g.7892992C>T	ENSP00000264668:p.Ser535Phe	Somatic	0	44	0		0.52429534266604	4	71.43	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	35	45.31	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP							pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S535F	ENST00000264668.2	37	c.1604	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523678	0.27299	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.02525	4.26;4.27	4.75	1.66	0.24008	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	1.671310	0.02780	N	0.120751	T	0.03390	0.0098	L	0.59436	1.845	0.09310	N	1	P	0.42735	0.788	B	0.31245	0.126	T	0.41805	-0.9488	10	0.59425	D	0.04	-0.2195	1.2934	0.02065	0.2957:0.3879:0.1439:0.1724	.	535	Q9UBK8	MTRR_HUMAN	F	535;508	ENSP00000264668:S535F;ENSP00000402510:S508F	ENSP00000264668:S535F	S	+	2	0	MTRR	7945992	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	0.489000	0.27749	0.655000	0.94253	TCC	-	superfamily_Riboflavin_synthase-like_b-brl		0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	protein_coding	OTTHUMT00000206931.1	C		-		7892992	1	no_errors	ENST00000264668	ensembl	human	known	74_37	missense	SNP	0.000	T	T	7892992	C	T	7892992	3	4	196	1	0	0	0	0	1	0	0	0	9963	855	30	2	1646	2	MTRR	5	7892992	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7049237	7892992	173022268	707	13979											
SEMA5A	9037	genome.wustl.edu	37	chr5	9063076	9063076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccatacttgggttcgGggttgttgcaaacacgcttc	10	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:9063076G>A	ENST00000382496.5	-	18	3106	c.2441C>T	c.(2440-2442)cCc>cTc	p.P814L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	814	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTTGGGTTCGGGGTTGTTGCA	0.567																																																	0								ENSG00000112902						110	88	95					5																	9063076		2203	4300	6503	SEMA5A	SO:0001583	missense	0			-	HGNC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2441C>T	5.37:g.9063076G>A	ENSP00000371936:p.Pro814Leu	Somatic	0	62	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	76	12.36	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.P814L	ENST00000382496.5	37	c.2441	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049080	0.93740	.	.	ENSG00000112902	ENST00000382496	T	0.54479	0.57	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	H	0.97564	4.03	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87814	0.2633	10	0.59425	D	0.04	.	17.2182	0.86950	0.0:0.0:1.0:0.0	.	814	Q13591	SEM5A_HUMAN	L	814	ENSP00000371936:P814L	ENSP00000371936:P814L	P	-	2	0	SEMA5A	9116076	1.000000	0.71417	0.992000	0.48379	0.890000	0.51754	9.550000	0.98110	2.659000	0.90383	0.655000	0.94253	CCC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	protein_coding	OTTHUMT00000206989.2	G		-		9063076	-1	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9063076	G	A	9063076	3	1	196	1	0	0	0	0	1	0	0	0	14045	1232	43	2	807	2	SEMA5A	5	9063076	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1170084	9063076	171852184	708	13980											
CCT5	22948	genome.wustl.edu	37	chr5	10262666	10262666	+	Frame_Shift_Del	DEL	T	T	-													cctcatccgcgataatcgtgTggtgtatggaggaggggctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:10262666delT	ENST00000280326.4	+	9	1673	c.1253delT	c.(1252-1254)gtgfs	p.V419fs	CCT5_ENST00000503026.1_Frame_Shift_Del_p.V398fs|CCT5_ENST00000506600.1_Frame_Shift_Del_p.V326fs|CCT5_ENST00000515390.1_Frame_Shift_Del_p.V364fs|CCT5_ENST00000515676.1_Frame_Shift_Del_p.V381fs|CTD-2256P15.4_ENST00000606194.1_RNA	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	419					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GATAATCGTGTGGTGTATGGA	0.498																																																	0								ENSG00000150753						173	140	151					5																	10262666		2203	4300	6503	CCT5	SO:0001589	frameshift_variant	0				HGNC	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1253delT	5.37:g.10262666delT	ENSP00000280326:p.Val419fs	Somatic	0	82	0		0.52429534266604	695	3.34	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	63	30.00	A8JZY8|A8K2X8|B4DYD8	Frame_Shift_Del	DEL							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.V418fs	ENST00000280326.4	37	c.1253	CCDS3877.1	5																																																																																			-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi		0.498	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	protein_coding	OTTHUMT00000253688.2	T				10262666	1	no_errors	ENST00000280326	ensembl	human	known	74_37	frame_shift_del	DEL	0.988	-	-	10262666	T	-	10262666	7	5	196	1	0	1	0	1	0	0	0	0	2958	1696	59	0	1287	0	CCT5	5	10262666	Frame_Shift_Del	DEL	T	TCGA-QC-A7B5-01A-11D-A33E-09	1199590	10262666	170652594	709	13981											
DNAH5	1767	genome.wustl.edu	37	chr5	13753556	13753556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttccaaatggaattttcCgggctttcatttccttccgc	6	12	2	0	rs144393366		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:13753556C>T	ENST00000265104.4	-	63	10762	c.10658G>A	c.(10657-10659)cGg>cAg	p.R3553Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3553					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)					TGGAATTTTCCGGGCTTTCAT	0.403									Kartagener syndrome																																								0								ENSG00000039139	C	GLN/ARG	0,4406		0,0,2203	121	122	122		10658	5.8	1	5	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAH5	NM_001369.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	3553/4625	13753556	2,13004	2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.10658G>A	5.37:g.13753556C>T	ENSP00000265104:p.Arg3553Gln	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	54	35.71	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3553Q	ENST00000265104.4	37	c.10658	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502378	0.85176	0.0	2.33E-4	ENSG00000039139	ENST00000265104	T	0.56444	0.46	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.62209	1.925	0.80722	D	1	P	0.44090	0.826	B	0.32090	0.14	T	0.55730	-0.8095	10	0.44086	T	0.13	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	3553	Q8TE73	DYH5_HUMAN	Q	3553	ENSP00000265104:R3553Q	ENSP00000265104:R3553Q	R	-	2	0	DNAH5	13806556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGG	-	NULL		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	C	NM_001369	rs144393366		13753556	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13753556	C	T	13753556	3	4	196	1	0	0	0	0	1	0	0	0	4606	652	23	1	3284	1	DNAH5	5	13753556	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3490890	13753556	167161704	710	13982											
CDH12	1010	genome.wustl.edu	37	chr5	21817074	21817074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcaatttgatgactcCctcttgtgtatcctcatctg	5	11	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:21817074C>T	ENST00000382254.1	-	9	2068	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CDH12_ENST00000522262.1_Missense_Mutation_p.G288R|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G328R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	328	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGATGACTCCCTCTTGTGTA	0.318										HNSCC(59;0.17)																																							0								ENSG00000154162						143	144	144					5																	21817074		2203	4300	6503	CDH12	SO:0001583	missense	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.982G>A	5.37:g.21817074C>T	ENSP00000371689:p.Gly328Arg	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	48	23.44	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G328R	ENST00000382254.1	37	c.982	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726983	0.89390	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.56941	0.43;0.43;0.43	5.06	5.06	0.68205	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92667	0.6146	10	0.87932	D	0	.	18.7892	0.91966	0.0:1.0:0.0:0.0	.	288;328	B7Z2U6;P55289	.;CAD12_HUMAN	R	328;328;288	ENSP00000423577:G328R;ENSP00000371689:G328R;ENSP00000428786:G288R	ENSP00000371689:G328R	G	-	1	0	CDH12	21852831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.361000	0.79497	2.483000	0.83821	0.650000	0.86243	GGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.318	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	C	NM_004061	-		21817074	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21817074	C	T	21817074	3	4	196	1	0	0	0	0	1	0	0	0	3100	632	22	2	1430	2	CDH12	5	21817074	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8063518	21817074	159098186	711	13983											
PRDM9	56979	genome.wustl.edu	37	chr5	23526341	23526341	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaaaaacttcctctttcaGaaccaaagccagagatccat	4	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:23526341G>A	ENST00000296682.3	+	11	1326		c.e11-1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						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						TCCTCTTTCAGAACCAAAGCC	0.403										HNSCC(3;0.000094)																																							0								ENSG00000164256						91	88	89					5																	23526341		2203	4297	6500	PRDM9	SO:0001630	splice_region_variant	0			-	HGNC	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.1145-1G>A	5.37:g.23526341G>A		Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	104	11.11	B4DX22|Q27Q50	Splice_Site	SNP							-	e10-1	ENST00000296682.3	37	c.1145-1	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	6.260	0.416062	0.11870	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5162	0.50522	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRDM9	23562098	0.955000	0.32602	0.098000	0.21074	0.096000	0.18686	0.740000	0.26188	1.940000	0.56252	0.505000	0.49811	.	-	-		0.403	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	protein_coding	OTTHUMT00000366375.1	G	NM_020227	-	Intron	23526341	1	no_errors	ENST00000296682	ensembl	human	known	74_37	splice_site	SNP	0.488	A	A	23526341	G	A	23526341	5	1	196	1	0	0	0	0	0	0	1	0	12468	956	33	2	1182	2	PRDM9	5	23526341	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1709267	23526341	157388919	712	13984											
CDH9	1007	genome.wustl.edu	37	chr5	26903850	26903850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atactccatttctgcattttCccccacgtcagggtcattgg	7	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:26903850C>T	ENST00000231021.4	-	6	1067	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	299	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTGCATTTTCCCCCACGTCA	0.408																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						251	218	229					5																	26903850		2203	4299	6502	CDH9	SO:0001583	missense	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.895G>A	5.37:g.26903850C>T	ENSP00000231021:p.Glu299Lys	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	Q3B7I5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E299K	ENST00000231021.4	37	c.895	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550016	0.13374	.	.	ENSG00000113100	ENST00000231021	T	0.51574	0.7	5.74	0.947	0.19555	Cadherin (4);Cadherin-like (1);	0.689341	0.15199	N	0.275143	T	0.25306	0.0615	N	0.17248	0.465	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.16394	-1.0404	9	.	.	.	.	5.5637	0.17158	0.0:0.514:0.1308:0.3552	.	299	Q9ULB4	CADH9_HUMAN	K	299	ENSP00000231021:E299K	.	E	-	1	0	CDH9	26939607	0.191000	0.23288	0.968000	0.41197	0.232000	0.25224	1.021000	0.30040	0.165000	0.19558	-1.754000	0.00674	GAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	C	NM_016279	-		26903850	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	SNP	0.022	T	T	26903850	C	T	26903850	3	4	196	1	0	0	0	0	1	0	0	0	3119	864	30	2	1502	2	CDH9	5	26903850	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3377509	26903850	154011410	713	13985											
RNASEN	29102	genome.wustl.edu	37	chr5	31508871	31508871	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcagactcacactcggattCactggaactctctaacaggg	8	12	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:31508871C>T	ENST00000511367.2	-	9	1688	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	DROSHA_ENST00000513349.1_Missense_Mutation_p.E445K|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000344624.3_Missense_Mutation_p.E482K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E445K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	482					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)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CACTCGGATTCACTGGAACTC	0.438																																																	0								ENSG00000113360						60	54	56					5																	31508871		1857	4087	5944	DROSHA	SO:0001583	missense	0			-	HGNC	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.1444G>A	5.37:g.31508871C>T	ENSP00000425979:p.Glu482Lys	Somatic	0	65	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	86	14.85	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.E482K	ENST00000511367.2	37	c.1444	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007932	0.75046	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.45668	1.48;1.48;0.89;0.89	5.35	5.35	0.76521	.	0.208503	0.49305	D	0.000160	T	0.38719	0.1051	L	0.40543	1.245	0.80722	D	1	B;B;B	0.31054	0.306;0.118;0.255	B;B;B	0.29267	0.1;0.037;0.071	T	0.22068	-1.0227	10	0.48119	T	0.1	-22.5652	19.0753	0.93159	0.0:1.0:0.0:0.0	.	414;445;482	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	K	482;482;445;445;407;438	ENSP00000425979:E482K;ENSP00000339845:E482K;ENSP00000409335:E445K;ENSP00000424161:E445K	ENSP00000265075:E407K	E	-	1	0	DROSHA	31544628	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.433000	0.80362	2.515000	0.84797	0.650000	0.86243	GAA	-	NULL		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	protein_coding	OTTHUMT00000366561.3	C	NM_013235	-		31508871	-1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31508871	C	T	31508871	3	4	196	1	0	0	0	0	1	0	0	0	13425	835	29	2	2788	2	RNASEN	5	31508871	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4605021	31508871	149406389	714	13986											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33684046	33684046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcggccaccaccagtGtctccacccatctctccttg	7	17	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:33684046G>A	ENST00000504830.1	-	4	1084	c.749C>T	c.(748-750)aCa>aTa	p.T250I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T250I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	250	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						CACCACCAGTGTCTCCACCCA	0.527										HNSCC(64;0.19)																																							0								ENSG00000151388						134	124	127					5																	33684046		2203	4300	6503	ADAMTS12	SO:0001583	missense	0			-	HGNC	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.749C>T	5.37:g.33684046G>A	ENSP00000422554:p.Thr250Ile	Somatic	0	16	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T250I	ENST00000504830.1	37	c.749	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863297	0.91511	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.18;0.18	4.86	4.86	0.63082	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.047294	0.85682	D	0.000000	T	0.74726	0.3754	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.98	T	0.75113	-0.3432	10	0.49607	T	0.09	.	18.5475	0.91053	0.0:0.0:1.0:0.0	.	250;250	P58397-3;P58397	.;ATS12_HUMAN	I	250	ENSP00000422554:T250I;ENSP00000344847:T250I	ENSP00000344847:T250I	T	-	2	0	ADAMTS12	33719803	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	9.508000	0.98000	2.685000	0.91497	0.544000	0.68410	ACA	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	G	NM_030955	-		33684046	-1	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33684046	G	A	33684046	3	1	196	1	0	0	0	0	1	0	0	0	257	1377	48	2	4119	2	ADAMTS12	5	33684046	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2175175	33684046	147231214	715	13987											
SLC45A2	51151	genome.wustl.edu	37	chr5	33982499	33982499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccaaaccagcttcctcCttgggttagcaatcaaagct	8	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:33982499C>T	ENST00000296589.4	-	2	550	c.404G>A	c.(403-405)aGg>aAg	p.R135K	SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000509381.1_Missense_Mutation_p.R135K|SLC45A2_ENST00000382102.3_Missense_Mutation_p.R135K|SLC45A2_ENST00000345083.5_Missense_Mutation_p.R135K	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	135					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						CAGCTTCCTCCTTGGGTTAGC	0.408																																					Ovarian(31;380 859 8490 22203 49048)												0								ENSG00000164175						80	76	77					5																	33982499		2203	4300	6503	SLC45A2	SO:0001583	missense	0			-	HGNC	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.404G>A	5.37:g.33982499C>T	ENSP00000296589:p.Arg135Lys	Somatic	0	17	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	Q6P2P0|Q9BTM3	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R135K	ENST00000296589.4	37	c.404	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	3.471	-0.107943	0.06924	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.33	1.49	0.22878	Major facilitator superfamily domain, general substrate transporter (1);	1.178640	0.05574	N	0.571552	D	0.85805	0.5782	L	0.43152	1.355	0.09310	N	1	B;B;B	0.14012	0.009;0.0;0.0	B;B;B	0.15484	0.013;0.002;0.008	T	0.68522	-0.5386	10	0.06365	T	0.9	-18.7984	4.831	0.13439	0.0:0.3728:0.1552:0.472	.	135;135;135	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	K	135	ENSP00000296589:R135K;ENSP00000371534:R135K;ENSP00000421100:R135K;ENSP00000340444:R135K	ENSP00000296589:R135K	R	-	2	0	SLC45A2	34018256	0.007000	0.16637	0.868000	0.34077	0.998000	0.95712	0.230000	0.17852	0.327000	0.23409	0.643000	0.83706	AGG	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.408	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	protein_coding	OTTHUMT00000207443.2	C	NM_016180	-		33982499	-1	no_errors	ENST00000296589	ensembl	human	known	74_37	missense	SNP	0.019	T	T	33982499	C	T	33982499	3	4	196	1	0	0	0	0	1	0	0	0	14649	681	24	2	1227	2	SLC45A2	5	33982499	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	298453	33982499	146932761	716	13988											
SLC45A2	51151	genome.wustl.edu	37	chr5	33984600	33984600	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgagtctgctggtgggtCttttaggcggctccacagag	15	8	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:33984600C>T	ENST00000296589.4	-	1	235	c.89G>A	c.(88-90)aGa>aAa	p.R30K	SLC45A2_ENST00000342059.3_Missense_Mutation_p.R30K|SLC45A2_ENST00000509381.1_Missense_Mutation_p.R30K|SLC45A2_ENST00000382102.3_Missense_Mutation_p.R30K|SLC45A2_ENST00000345083.5_Missense_Mutation_p.R30K	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	30					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						GCTGGTGGGTCTTTTAGGCGG	0.577																																					Ovarian(31;380 859 8490 22203 49048)												0								ENSG00000164175						50	50	50					5																	33984600		2203	4300	6503	SLC45A2	SO:0001583	missense	0			-	HGNC	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.89G>A	5.37:g.33984600C>T	ENSP00000296589:p.Arg30Lys	Somatic	0	85	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	67	36.19	Q6P2P0|Q9BTM3	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R30K	ENST00000296589.4	37	c.89	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369992	0.82573	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	T;T;T;T	0.81078	-1.45;-1.45;-1.45;0.85	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	L	0.27053	0.805	0.35908	D	0.83086	D;D;B	0.61080	0.989;0.987;0.203	P;P;B	0.62491	0.729;0.903;0.223	T	0.78186	-0.2302	10	0.16896	T	0.51	-30.6446	12.1645	0.54123	0.0:0.8767:0.0:0.1233	.	30;30;30	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	K	30	ENSP00000296589:R30K;ENSP00000341014:R30K;ENSP00000371534:R30K;ENSP00000340444:R30K	ENSP00000296589:R30K	R	-	2	0	SLC45A2	34020357	0.969000	0.33509	0.236000	0.24074	0.080000	0.17528	3.794000	0.55492	2.535000	0.85469	0.551000	0.68910	AGA	-	superfamily_MFS_dom_general_subst_transpt		0.577	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	protein_coding	OTTHUMT00000207443.2	C	NM_016180	-		33984600	-1	no_errors	ENST00000296589	ensembl	human	known	74_37	missense	SNP	0.513	T	T	33984600	C	T	33984600	3	4	196	1	0	0	0	0	1	0	0	0	14649	913	32	2	1546	2	SLC45A2	5	33984600	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2101	33984600	146930660	717	13989											
LMBRD2	92255	genome.wustl.edu	37	chr5	36114598	36114598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatccatctgcaataaagGataaaactttcatggaaccc	6	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:36114598G>A	ENST00000296603.4	-	13	2030	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	523						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCAATAAAGGATAAAACTTT	0.284																																																	0								ENSG00000164187						57	63	61					5																	36114598		2196	4284	6480	LMBRD2	SO:0001583	missense	0			-	HGNC		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1568C>T	5.37:g.36114598G>A	ENSP00000296603:p.Ser523Phe	Somatic	0	155	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	121	31.25	B3KRB6|Q9NTC7	Missense_Mutation	SNP							pfam_LMBR1-like_membr_prot	p.S523F	ENST00000296603.4	37	c.1568	CCDS34145.1	5	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969198	0.92855	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.34859	1.34	5.47	5.47	0.80525	LMBR1-like membrane protein (1);	0.048789	0.85682	D	0.000000	T	0.50616	0.1626	M	0.74258	2.255	0.80722	D	1	P	0.47106	0.89	P	0.47299	0.543	T	0.56341	-0.7995	10	0.66056	D	0.02	-9.3245	19.3362	0.94320	0.0:0.0:1.0:0.0	.	523	Q68DH5	LMBD2_HUMAN	F	523;417	ENSP00000296603:S523F	ENSP00000296603:S523F	S	-	2	0	LMBRD2	36150355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.227000	0.95236	2.568000	0.86640	0.655000	0.94253	TCC	-	pfam_LMBR1-like_membr_prot		0.284	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	protein_coding	OTTHUMT00000367552.1	G	NM_001007527	-		36114598	-1	no_errors	ENST00000296603	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36114598	G	A	36114598	3	1	196	1	0	0	0	0	1	0	0	0	8845	1174	41	2	543	2	LMBRD2	5	36114598	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2129998	36114598	144800662	718	13990											
LMBRD2	92255	genome.wustl.edu	37	chr5	36137496	36137496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgatctttccagtgatgGaaaaccctcctgatcttgca	7	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:36137496G>A	ENST00000296603.4	-	5	878	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	139						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAGTGATGGAAAACCCTCC	0.328																																																	0								ENSG00000164187						81	81	81					5																	36137496		2203	4300	6503	LMBRD2	SO:0001583	missense	0			-	HGNC		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.416C>T	5.37:g.36137496G>A	ENSP00000296603:p.Ser139Phe	Somatic	0	108	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	110	21.99	B3KRB6|Q9NTC7	Missense_Mutation	SNP							pfam_LMBR1-like_membr_prot	p.S139F	ENST00000296603.4	37	c.416	CCDS34145.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889851	0.91889	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.33216	1.42	5.73	5.73	0.89815	LMBR1-like membrane protein (1);	0.052649	0.85682	D	0.000000	T	0.53351	0.1791	L	0.58101	1.795	0.80722	D	1	D	0.62365	0.991	D	0.64877	0.93	T	0.51834	-0.8655	10	0.72032	D	0.01	-11.5535	19.8961	0.96958	0.0:0.0:1.0:0.0	.	139	Q68DH5	LMBD2_HUMAN	F	139;33	ENSP00000296603:S139F	ENSP00000296603:S139F	S	-	2	0	LMBRD2	36173253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.135000	0.94478	2.699000	0.92147	0.655000	0.94253	TCC	-	pfam_LMBR1-like_membr_prot		0.328	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	protein_coding	OTTHUMT00000367552.1	G	NM_001007527	-		36137496	-1	no_errors	ENST00000296603	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36137496	G	A	36137496	3	1	196	1	0	0	0	0	1	0	0	0	8845	1174	41	2	1727	2	LMBRD2	5	36137496	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	22898	36137496	144777764	719	13991											
C5orf42	65250	genome.wustl.edu	37	chr5	37169560	37169560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtatttccagcaggagctGgataaaacgaagtggatggt	14	5	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:37169560G>A	ENST00000508244.1	-	33	6659	c.6566C>T	c.(6565-6567)cCa>cTa	p.P2189L	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2189L|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1069L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2189						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGCAGGAGCTGGATAAAACGA	0.433																																																	0								ENSG00000197603						76	78	78					5																	37169560		2203	4300	6503	C5orf42	SO:0001583	missense	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6566C>T	5.37:g.37169560G>A	ENSP00000421690:p.Pro2189Leu	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	54	38.64	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP							superfamily_Quino_amine_DH_bsu	p.P2189L	ENST00000508244.1	37	c.6566	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658466	0.47467	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26518	1.77;1.77;1.73;1.75	5.53	2.79	0.32731	.	0.483471	0.17947	N	0.156624	T	0.21841	0.0526	L	0.54323	1.7	0.09310	N	1	B;B	0.27140	0.047;0.169	B;B	0.28553	0.032;0.091	T	0.19877	-1.0292	10	0.33940	T	0.23	.	5.685	0.17797	0.1422:0.0:0.5845:0.2734	.	2189;1069	E9PH94;Q9H799	.;CE042_HUMAN	L	2189;2189;1069;1237;1069	ENSP00000421690:P2189L;ENSP00000389014:P2189L;ENSP00000274258:P1069L;ENSP00000424223:P1237L	ENSP00000274258:P1069L	P	-	2	0	C5orf42	37205317	0.004000	0.15560	0.000000	0.03702	0.030000	0.12068	0.792000	0.26929	0.286000	0.22352	0.655000	0.94253	CCA	-	NULL		0.433	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	G	NM_023073	-		37169560	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	SNP	0.001	A	A	37169560	G	A	37169560	3	1	196	1	0	0	0	0	1	0	0	0	2303	1348	47	2	3103	2	C5orf42	5	37169560	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1032064	37169560	143745700	720	13992											
RICTOR	253260	genome.wustl.edu	37	chr5	38962592	38962592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtatcttttcataccttaaGaatggtccctataagattcc	5	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:38962592G>T	ENST00000357387.3	-	18	1693	c.1663C>A	c.(1663-1665)Ctt>Att	p.L555I	RICTOR_ENST00000296782.5_Missense_Mutation_p.L555I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CATACCTTAAGAATGGTCCCT	0.294																																																	0								ENSG00000164327						46	48	47					5																	38962592		2197	4284	6481	RICTOR	SO:0001583	missense	0			-	HGNC		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1663C>A	5.37:g.38962592G>T	ENSP00000349959:p.Leu555Ile	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	51	37.04		Missense_Mutation	SNP							superfamily_ARM-type_fold	p.L555I	ENST00000357387.3	37	c.1663	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415736	0.83449	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.50277	0.76;0.75	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.44542	1.39	0.58432	D	0.999996	D;D	0.67145	0.965;0.996	P;D	0.75484	0.79;0.986	T	0.61441	-0.7062	10	0.87932	D	0	-12.9698	12.6118	0.56556	0.0763:0.0:0.9237:0.0	.	555;555	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	555	ENSP00000349959:L555I;ENSP00000296782:L555I	ENSP00000296782:L555I	L	-	1	0	RICTOR	38998349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.510000	0.60455	2.623000	0.88846	0.563000	0.77884	CTT	-	NULL		0.294	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	protein_coding	OTTHUMT00000366985.1	G	NM_152756	-		38962592	-1	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38962592	G	T	38962592	3	4	196	1	0	0	0	0	1	0	0	0	13366	942	33	3	3547	3	RICTOR	5	38962592	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1793032	38962592	141952668	721	13993											
FYB	2533	genome.wustl.edu	37	chr5	39153563	39153563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttactttaggtcaaacgGaggtttaatgtttctgggag	12	5	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:39153563G>A	ENST00000351578.6	-	3	1469	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	FYB_ENST00000512982.1_Missense_Mutation_p.P427S|FYB_ENST00000515010.1_Missense_Mutation_p.P427S|FYB_ENST00000505428.1_Missense_Mutation_p.P427S|FYB_ENST00000540520.1_Missense_Mutation_p.P437S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	427	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGGTCAAACGGAGGTTTAATG	0.478																																																	0								ENSG00000082074						297	297	297					5																	39153563		2010	4167	6177	FYB	SO:0001583	missense	0			-	HGNC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1279C>T	5.37:g.39153563G>A	ENSP00000316460:p.Pro427Ser	Somatic	0	93	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	79	33.05	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.P437S	ENST00000351578.6	37	c.1309	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460622	0.26248	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.22539	1.95;1.95;1.96;1.96;1.96	4.64	-2.06	0.07298	.	0.575109	0.16838	N	0.197444	T	0.12817	0.0311	L	0.50333	1.59	0.33123	D	0.542023	B;B	0.18461	0.028;0.002	B;B	0.12156	0.007;0.001	T	0.15378	-1.0439	10	0.26408	T	0.33	0.0438	1.1984	0.01880	0.2778:0.3193:0.2649:0.1379	.	437;427	B4DLN2;O15117	.;FYB_HUMAN	S	427;427;427;427;437;427	ENSP00000316460:P427S;ENSP00000426346:P427S;ENSP00000425845:P427S;ENSP00000427114:P427S;ENSP00000442840:P437S	ENSP00000316460:P427S	P	-	1	0	FYB	39189320	0.106000	0.21978	0.950000	0.38849	0.987000	0.75469	-0.719000	0.04974	-0.407000	0.07576	0.561000	0.74099	CCG	-	NULL		0.478	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	protein_coding	OTTHUMT00000367098.1	G	NM_001465	-		39153563	-1	no_errors	ENST00000540520	ensembl	human	known	74_37	missense	SNP	0.837	A	A	39153563	G	A	39153563	3	1	196	1	0	0	0	0	1	0	0	0	6126	1174	41	2	1278	2	FYB	5	39153563	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	190971	39153563	141761697	722	13994											
C6	729	genome.wustl.edu	37	chr5	41149432	41149432	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtcctttcaagacccCattctaactggcggccgtct	8	14	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:41149432C>T	ENST00000263413.3	-	17	2798	c.2534G>A	c.(2533-2535)tGg>tAg	p.W845*	C6_ENST00000337836.5_Nonsense_Mutation_p.W845*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	845	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCAAGACCCCATTCTAACTG	0.423																																																	0								ENSG00000039537						163	157	159					5																	41149432		2203	4300	6503	C6	SO:0001587	stop_gained	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2534G>A	5.37:g.41149432C>T	ENSP00000263413:p.Trp845*	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	71	10.13		Nonsense_Mutation	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.W845*	ENST00000263413.3	37	c.2534	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.269011	0.98735	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.85	4.98	0.66077	.	0.170934	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6593	15.3752	0.74598	0.0:0.932:0.0:0.068	.	.	.	.	X	845	.	ENSP00000263413:W845X	W	-	2	0	C6	41185189	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.131000	0.57970	2.768000	0.95171	0.655000	0.94253	TGG	-	NULL		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	C		-		41149432	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	41149432	C	T	41149432	4	4	196	1	0	0	0	0	0	1	0	0	2317	595	21	2	278	2	C6	5	41149432	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1995869	41149432	139765828	723	13995											
C5orf51	285636	genome.wustl.edu	37	chr5	41911190	41911190	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgagctactggaatgtctctCttggagacgaggagccctgc	13	10	2	2	rs201204178		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:41911190C>T	ENST00000381647.2	+	4	414	c.395C>T	c.(394-396)tCt>tTt	p.S132F	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	132										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAATGTCTCTCTTGGAGACGA	0.388																																																	0								ENSG00000205765	C	PHE/SER	0,4406		0,0,2203	116	114	115		395	4.8	1	5		115	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C5orf51	NM_175921.4	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	132/295	41911190	1,13005	2203	4300	6503	C5orf51	SO:0001583	missense	0			-	HGNC	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.395C>T	5.37:g.41911190C>T	ENSP00000371061:p.Ser132Phe	Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	48	41.46	A2RRM9	Missense_Mutation	SNP							NULL	p.S132F	ENST00000381647.2	37	c.395	CCDS34151.1	5	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107093	0.37145	0.0	1.16E-4	ENSG00000205765	ENST00000381647	T	0.31510	1.49	5.7	4.76	0.60689	.	0.055935	0.85682	D	0.000000	T	0.13970	0.0338	N	0.14661	0.345	0.40422	D	0.979852	P	0.43938	0.822	B	0.33960	0.173	T	0.07908	-1.0748	10	0.17369	T	0.5	-2.0322	10.8575	0.46808	0.3165:0.6835:0.0:0.0	.	132	A6NDU8	CE051_HUMAN	F	132	ENSP00000371061:S132F	ENSP00000371061:S132F	S	+	2	0	C5orf51	41946947	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.901000	0.63259	2.694000	0.91930	0.467000	0.42956	TCT	-	NULL		0.388	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf51	protein_coding	OTTHUMT00000367144.1	C	NM_175921	rs201204178		41911190	1	no_errors	ENST00000381647	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41911190	C	T	41911190	3	4	196	1	0	0	0	0	1	0	0	0	2310	913	32	2	409	2	C5orf51	5	41911190	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	761758	41911190	139004070	724	13996											
HCN1	348980	genome.wustl.edu	37	chr5	45262298	45262298	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggatgaggtctggaaatcaGagtggacacctcatggggca	16	7	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:45262298G>A	ENST00000303230.4	-	8	2455	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	800					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						CTGGAAATCAGAGTGGACACC	0.657																																																	0								ENSG00000164588						51	50	50					5																	45262298		2203	4300	6503	HCN1	SO:0001819	synonymous_variant	0			-	HGNC	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.2398C>T	5.37:g.45262298G>A		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57		Silent	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.L800	ENST00000303230.4	37	c.2398	CCDS3952.1	5																																																																																			-	NULL		0.657	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	protein_coding	OTTHUMT00000253847.1	G	NM_021072	-		45262298	-1	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	SNP	0.858	A	A	45262298	G	A	45262298	2	1	196	1	0	0	0	0	0	0	0	1	6998	933	33	2		2	HCN1	5	45262298	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3351108	45262298	135652962	725	13997											
EMB	133418	genome.wustl.edu	37	chr5	49699285	49699285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcatttgaacaccaacagGaacctaatatgaggagacat	7	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:49699285G>A	ENST00000303221.5	-	6	819	c.604C>T	c.(604-606)Cct>Tct	p.P202S	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.P152S|EMB_ENST00000508934.1_Missense_Mutation_p.P148S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	202	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ACACCAACAGGAACCTAATAT	0.328																																																	0								ENSG00000170571						70	67	68					5																	49699285		2202	4297	6499	EMB	SO:0001583	missense	0			-	HGNC	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.604C>T	5.37:g.49699285G>A	ENSP00000302289:p.Pro202Ser	Somatic	0	125	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	110	25.00	B7Z6S3|B7Z902	Missense_Mutation	SNP							pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P202S	ENST00000303221.5	37	c.604	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114555	0.56505	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.71341	-0.56;3.16;-0.56	4.79	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387330	0.27966	N	0.017131	T	0.75072	0.3800	M	0.70595	2.14	0.36051	D	0.840781	P;P	0.45126	0.817;0.851	P;P	0.48571	0.556;0.582	T	0.81031	-0.1117	9	.	.	.	-17.0702	13.7478	0.62885	0.0:0.0:1.0:0.0	.	148;202	D6RDX7;Q6PCB8	.;EMB_HUMAN	S	202;174;148;152	ENSP00000302289:P202S;ENSP00000425215:P148S;ENSP00000426404:P152S	.	P	-	1	0	EMB	49735042	1.000000	0.71417	0.987000	0.45799	0.075000	0.17131	1.986000	0.40677	2.392000	0.81423	0.479000	0.44913	CCT	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	protein_coding	OTTHUMT00000253853.1	G	NM_198449	-		49699285	-1	no_errors	ENST00000303221	ensembl	human	known	74_37	missense	SNP	0.996	A	A	49699285	G	A	49699285	3	1	196	1	0	0	0	0	1	0	0	0	5087	1174	41	2	395	2	EMB	5	49699285	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4436987	49699285	131215975	726	13998											
GPX8	493869	genome.wustl.edu	37	chr5	54456137	54456137	+	Silent	SNP	C	C	T													tttcttctacaactaaaattCctcaaacctaaaatcaacag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:54456137C>T	ENST00000503787.1	+	1	192	c.117C>T	c.(115-117)ttC>ttT	p.F39F	CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_Silent_p.F39F	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	39					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AACTAAAATTCCTCAAACCTA	0.383																																																	0								ENSG00000164294						108	105	106					5																	54456137		2203	4300	6503	GPX8	SO:0001819	synonymous_variant	0			-	HGNC	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.117C>T	5.37:g.54456137C>T		Somatic	0	68	0		0.52429534266604	48	11.11	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	37	43.94		Silent	SNP							pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.F39	ENST00000503787.1	37	c.117	CCDS34156.1	5																																																																																			-	pirsf_Glutathione_peroxidase		0.383	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	protein_coding	OTTHUMT00000369717.1	C	NM_001008397	-		54456137	1	no_errors	ENST00000503787	ensembl	human	known	74_37	silent	SNP	0.996	T	T	54456137	C	T	54456137	2	4	196	1	0	0	0	0	0	0	0	1	6748	854	30	2		2	GPX8	5	54456137	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4756852	54456137	126459123	727	13999	263	2									
GPX8	493869	genome.wustl.edu	37	chr5	54456138	54456138	+	Missense_Mutation	SNP	C	C	T													ttcttctacaactaaaattcCtcaaacctaaaatcaacagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:54456138C>T	ENST00000503787.1	+	1	193	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_Missense_Mutation_p.L40F	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	40					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	ACTAAAATTCCTCAAACCTAA	0.378																																																	0								ENSG00000164294						108	105	106					5																	54456138		2203	4300	6503	GPX8	SO:0001583	missense	0			-	HGNC	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.118C>T	5.37:g.54456138C>T	ENSP00000423822:p.Leu40Phe	Somatic	0	67	0		0.52429534266604	49	12.5	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	42.19		Missense_Mutation	SNP							pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.L40F	ENST00000503787.1	37	c.118	CCDS34156.1	5	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361025	0.41801	.	.	ENSG00000164294	ENST00000503787;ENST00000296734	T	0.05382	3.45	5.93	5.02	0.67125	.	0.569849	0.18089	N	0.152047	T	0.04003	0.0112	N	0.14661	0.345	0.80722	D	1	B	0.16603	0.018	B	0.08055	0.003	T	0.44421	-0.9329	10	0.38643	T	0.18	.	7.1893	0.25816	0.1702:0.7244:0.0:0.1054	.	40	Q8TED1	GPX8_HUMAN	F	40	ENSP00000423822:L40F	ENSP00000296734:L40F	L	+	1	0	GPX8	54491895	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.269000	0.43346	2.798000	0.96311	0.655000	0.94253	CTC	-	pirsf_Glutathione_peroxidase		0.378	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	protein_coding	OTTHUMT00000369717.1	C	NM_001008397	-		54456138	1	no_errors	ENST00000503787	ensembl	human	known	74_37	missense	SNP	0.996	T	T	54456138	C	T	54456138	3	4	196	1	0	0	0	0	1	0	0	0	6748	681	24	2	120	2	GPX8	5	54456138	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	54456138	126459122	728	14000	263	2									
SKIV2L2	23517	genome.wustl.edu	37	chr5	54654445	54654445	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtctggtcgtgctggaagGagaggaatggatgatagagg	18	3	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:54654445G>A	ENST00000230640.5	+	15	1832	c.1578G>A	c.(1576-1578)agG>agA	p.R526R	SKIV2L2_ENST00000545714.1_Silent_p.R425R	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTGCTGGAAGGAGAGGAATGG	0.328																																					Melanoma(2;92 134 23744 29976 33782)												0								ENSG00000039123						106	106	106					5																	54654445		2203	4300	6503	SKIV2L2	SO:0001819	synonymous_variant	0			-	HGNC	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1578G>A	5.37:g.54654445G>A		Somatic	0	61	0		0.52429534266604	24	22.58	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP							pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R526	ENST00000230640.5	37	c.1578	CCDS3967.1	5																																																																																			-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C		0.328	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	protein_coding	OTTHUMT00000214108.1	G		-		54654445	1	no_errors	ENST00000230640	ensembl	human	known	74_37	silent	SNP	0.977	A	A	54654445	G	A	54654445	2	1	196	1	0	0	0	0	0	0	0	1	14368	1165	41	2		2	SKIV2L2	5	54654445	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	198307	54654445	126260815	729	14001											
ACTBL2	345651	genome.wustl.edu	37	chr5	56777818	56777818	+	Silent	SNP	C	C	G													ccatcaggaagttcatagctCcgttccggtgaggaggatgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:56777818C>G	ENST00000423391.1	-	1	818	c.717G>C	c.(715-717)cgG>cgC	p.R239R	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	239						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)		GTTCATAGCTCCGTTCCGGTG	0.547																																																	0								ENSG00000169067						91	80	83					5																	56777818		2203	4300	6503	ACTBL2	SO:0001819	synonymous_variant	0			-	HGNC		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.717G>C	5.37:g.56777818C>G		Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R239	ENST00000423391.1	37	c.717	CCDS34163.1	5																																																																																			-	pfam_Actin-related,smart_Actin-related,prints_Actin-related		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	C	NM_001017992	-		56777818	-1	no_errors	ENST00000423391	ensembl	human	known	74_37	silent	SNP	1.000	G	G	56777818	C	G	56777818	2	3	196	1	0	0	0	0	0	0	0	1	194	842	30	4		4	ACTBL2	5	56777818	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2123373	56777818	124137442	730	14002	264	2									
ACTBL2	345651	genome.wustl.edu	37	chr5	56777819	56777819	+	Missense_Mutation	SNP	C	C	T													catcaggaagttcatagctcCgttccggtgaggaggatgcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:56777819C>T	ENST00000423391.1	-	1	817	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	239						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)		TTCATAGCTCCGTTCCGGTGA	0.552																																																	0								ENSG00000169067						90	79	83					5																	56777819		2203	4300	6503	ACTBL2	SO:0001583	missense	0			-	HGNC		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.716G>A	5.37:g.56777819C>T	ENSP00000416706:p.Arg239Gln	Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	28	37.78	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R239Q	ENST00000423391.1	37	c.716	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064104	0.20067	.	.	ENSG00000169067	ENST00000423391	D	0.94613	-3.47	4.91	2.11	0.27256	.	0.150709	0.42821	D	0.000649	D	0.87386	0.6164	N	0.21282	0.65	0.32225	N	0.574742	B	0.22146	0.065	B	0.14578	0.011	D	0.84415	0.0568	10	0.87932	D	0	.	6.8068	0.23782	0.0:0.6214:0.0:0.3786	.	239	Q562R1	ACTBL_HUMAN	Q	239	ENSP00000416706:R239Q	ENSP00000416706:R239Q	R	-	2	0	ACTBL2	56813576	1.000000	0.71417	0.887000	0.34795	0.760000	0.43138	4.878000	0.63093	0.666000	0.31087	0.655000	0.94253	CGG	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	C	NM_001017992	-		56777819	-1	no_errors	ENST00000423391	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56777819	C	T	56777819	3	4	196	1	0	0	0	0	1	0	0	0	194	652	23	1	418	1	ACTBL2	5	56777819	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	56777819	124137441	731	14003	264	2									
PIK3R1	5295	genome.wustl.edu	37	chr5	67590975	67590975	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgtttcttttgcctgcaGgattatgcataattatgata	7	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:67590975G>A	ENST00000521381.1	+	13	2184		c.e13-1		PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTTGCCTGCAGGATTATGCAT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)						ENSG00000145675						69	71	71					5																	67590975		2203	4300	6503	PIK3R1	SO:0001630	splice_region_variant	0			-	HGNC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1569-1G>A	5.37:g.67590975G>A		Somatic	0	63	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	49	40.24	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP							-	e12-1	ENST00000521381.1	37	c.1569-1	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284567	0.80803	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9011	0.92443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67626731	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	9.601000	0.98297	2.773000	0.95371	0.585000	0.79938	.	-	-		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	protein_coding	OTTHUMT00000254013.2	G	NM_181504	-	Intron	67590975	1	no_errors	ENST00000396611	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	67590975	G	A	67590975	5	1	196	1	0	0	0	0	0	0	1	0	11920	1014	35	2	1744	2	PIK3R1	5	67590975	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10813156	67590975	113324285	732	14004											
CCDC125	202243	genome.wustl.edu	37	chr5	68578736	68578736	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccaggggttgttgaaaggGaaattctcttttataggatt	12	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:68578736G>A	ENST00000396496.2	-	12	1463	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Silent_p.F452F|CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000511257.1_Silent_p.F327F			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	452						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGTTGAAAGGGAAATTCTCTT	0.383																																																	0								ENSG00000183323						119	119	119					5																	68578736		2203	4300	6503	CCDC125	SO:0001819	synonymous_variant	0			-	HGNC	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1356C>T	5.37:g.68578736G>A		Somatic	0	56	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	65	30.53	Q86Z19	Silent	SNP							NULL	p.F452	ENST00000396496.2	37	c.1356	CCDS4000.1	5																																																																																			-	NULL		0.383	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	protein_coding	OTTHUMT00000254027.4	G	NM_176816	-		68578736	-1	no_errors	ENST00000396496	ensembl	human	known	74_37	silent	SNP	0.000	A	A	68578736	G	A	68578736	2	1	196	1	0	0	0	0	0	0	0	1	2763	1165	41	2		2	CCDC125	5	68578736	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	987761	68578736	112336524	733	14005											
BDP1	55814	genome.wustl.edu	37	chr5	70810863	70810863	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgtacacagactgaaagGaacctttcaccttcaaattc	5	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:70810863G>A	ENST00000358731.4	+	20	4826	c.4563G>A	c.(4561-4563)agG>agA	p.R1521R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1521					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGACTGAAAGGAACCTTTCAC	0.413																																																	0								ENSG00000145734						71	70	70					5																	70810863		1907	4128	6035	BDP1	SO:0001819	synonymous_variant	0			-	HGNC	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4563G>A	5.37:g.70810863G>A		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP							superfamily_Homeodomain-like,smart_SANT/Myb	p.R1521	ENST00000358731.4	37	c.4563	CCDS43328.1	5																																																																																			-	NULL		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	G	NM_018429	-		70810863	1	no_errors	ENST00000358731	ensembl	human	known	74_37	silent	SNP	0.027	A	A	70810863	G	A	70810863	2	1	196	1	0	0	0	0	0	0	0	1	1395	1165	41	2		2	BDP1	5	70810863	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2232127	70810863	110104397	734	14006											
TNPO1	3842	genome.wustl.edu	37	chr5	72185695	72185695	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgataccctggtctttgcaTttagtaaataccagcataag	7	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:72185695T>A	ENST00000337273.5	+	14	2038	c.1612T>A	c.(1612-1614)Ttt>Att	p.F538I	TNPO1_ENST00000523768.1_Missense_Mutation_p.F488I|TNPO1_ENST00000506351.2_Missense_Mutation_p.F530I|TNPO1_ENST00000454282.1_Missense_Mutation_p.F488I	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	538					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GGTCTTTGCATTTAGTAAATA	0.368																																																	0								ENSG00000083312						120	116	118					5																	72185695		2203	4300	6503	TNPO1	SO:0001583	missense	0			-	HGNC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1612T>A	5.37:g.72185695T>A	ENSP00000336712:p.Phe538Ile	Somatic	0	56	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP							pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F538I	ENST00000337273.5	37	c.1612	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	T	32	5.188181	0.94923	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.90759	3.145	0.80722	D	1	D;D	0.63046	0.974;0.992	P;P	0.60117	0.869;0.77	D	0.85471	0.1173	10	0.87932	D	0	-11.0209	15.3236	0.74141	0.0:0.0:0.0:1.0	.	488;538	Q92973-3;Q92973	.;TNPO1_HUMAN	I	538;488;488;530;49	ENSP00000336712:F538I;ENSP00000398524:F488I;ENSP00000428899:F488I;ENSP00000425118:F530I	ENSP00000336712:F538I	F	+	1	0	TNPO1	72221451	1.000000	0.71417	0.954000	0.39281	0.954000	0.61252	7.652000	0.83633	2.091000	0.63221	0.528000	0.53228	TTT	-	superfamily_ARM-type_fold		0.368	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	protein_coding	OTTHUMT00000218577.3	T	NM_002270	-		72185695	1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72185695	T	A	72185695	3	1	196	1	0	0	0	0	1	0	0	0	16342	1493	52	5	1666	5	TNPO1	5	72185695	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1374832	72185695	108729565	735	14007											
TNPO1	3842	genome.wustl.edu	37	chr5	72185734	72185734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacctgctcattctttacGatgccataggaacattagca	7	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:72185734G>A	ENST00000337273.5	+	14	2077	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	TNPO1_ENST00000523768.1_Missense_Mutation_p.D501N|TNPO1_ENST00000506351.2_Missense_Mutation_p.D543N|TNPO1_ENST00000454282.1_Missense_Mutation_p.D501N	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	551					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CATTCTTTACGATGCCATAGG	0.363																																																	0								ENSG00000083312						109	103	105					5																	72185734		2203	4300	6503	TNPO1	SO:0001583	missense	0			-	HGNC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1651G>A	5.37:g.72185734G>A	ENSP00000336712:p.Asp551Asn	Somatic	0	49	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP							pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D551N	ENST00000337273.5	37	c.1651	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.313208	0.95655	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	H	0.96633	3.855	0.80722	D	1	D;P	0.54601	0.967;0.931	P;P	0.59288	0.855;0.574	D	0.91089	0.4905	10	0.66056	D	0.02	-7.7143	19.0553	0.93062	0.0:0.0:1.0:0.0	.	501;551	Q92973-3;Q92973	.;TNPO1_HUMAN	N	551;501;501;543;62	ENSP00000336712:D551N;ENSP00000398524:D501N;ENSP00000428899:D501N;ENSP00000425118:D543N	ENSP00000336712:D551N	D	+	1	0	TNPO1	72221490	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	9.415000	0.97375	2.588000	0.87417	0.650000	0.86243	GAT	-	superfamily_ARM-type_fold		0.363	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	protein_coding	OTTHUMT00000218577.3	G	NM_002270	-		72185734	1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72185734	G	A	72185734	3	1	196	1	0	0	0	0	1	0	0	0	16342	1058	37	1	1705	1	TNPO1	5	72185734	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	39	72185734	108729526	736	14008											
FCHO2	115548	genome.wustl.edu	37	chr5	72370583	72370583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctaggtgtgtcacggggtCccagccctgtcagccttgga	13	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:72370583C>T	ENST00000430046.2	+	20	1710	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	FCHO2_ENST00000341845.6_Missense_Mutation_p.P532S|FCHO2_ENST00000512348.1_Missense_Mutation_p.P499S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	532	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTCACGGGGTCCCAGCCCTGT	0.403																																																	0								ENSG00000157107						87	84	85					5																	72370583		1879	4107	5986	FCHO2	SO:0001583	missense	0			-	HGNC	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1594C>T	5.37:g.72370583C>T	ENSP00000393776:p.Pro532Ser	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP							pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.P532S	ENST00000430046.2	37	c.1594	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937082	0.92458	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.39997	1.05;1.07;3.51	5.73	5.73	0.89815	.	0.176661	0.50627	D	0.000111	T	0.67683	0.2919	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.65685	-0.6108	10	0.41790	T	0.15	-10.0873	19.8989	0.96978	0.0:1.0:0.0:0.0	.	499;532	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	S	532;532;499	ENSP00000393776:P532S;ENSP00000344034:P532S;ENSP00000427296:P499S	ENSP00000344034:P532S	P	+	1	0	FCHO2	72406339	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.458000	0.80787	2.706000	0.92434	0.555000	0.69702	CCC	-	pfam_Muniscin_C-term_mu_dom		0.403	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	protein_coding	OTTHUMT00000368795.3	C	XM_291142	-		72370583	1	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72370583	C	T	72370583	3	4	196	1	0	0	0	0	1	0	0	0	5790	855	30	2	1672	2	FCHO2	5	72370583	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	184849	72370583	108544677	737	14009											
FAM169A	26049	genome.wustl.edu	37	chr5	74137459	74137459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagcagaattttccaattCctcatggctgcaattttcca	5	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:74137459C>T	ENST00000389156.4	-	2	133	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	FAM169A_ENST00000380515.3_Missense_Mutation_p.E15K|FAM169A_ENST00000510496.1_Missense_Mutation_p.E15K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	15						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTTTCCAATTCCTCATGGCTG	0.393																																																	0								ENSG00000198780						102	93	96					5																	74137459		1846	4100	5946	FAM169A	SO:0001583	missense	0			-	HGNC		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.43G>A	5.37:g.74137459C>T	ENSP00000373808:p.Glu15Lys	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	50	43.33	A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP							NULL	p.E15K	ENST00000389156.4	37	c.43	CCDS43330.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381059	0.82792	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.61	5.61	0.85477	.	0.162433	0.38548	N	0.001646	T	0.38692	0.1050	L	0.50333	1.59	0.53688	D	0.999977	P;P	0.43352	0.804;0.804	B;B	0.43103	0.386;0.408	T	0.07868	-1.0750	10	0.14252	T	0.57	-13.8808	19.631	0.95701	0.0:1.0:0.0:0.0	.	15;15	D6RB01;Q9Y6X4	.;F169A_HUMAN	K	15	ENSP00000373808:E15K;ENSP00000424578:E15K;ENSP00000369886:E15K;ENSP00000423631:E15K;ENSP00000423883:E15K;ENSP00000421451:E15K	ENSP00000369886:E15K	E	-	1	0	FAM169A	74173215	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.437000	0.52863	2.635000	0.89317	0.585000	0.79938	GAA	-	NULL		0.393	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	protein_coding	OTTHUMT00000371092.2	C		-		74137459	-1	no_errors	ENST00000389156	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74137459	C	T	74137459	3	4	196	1	0	0	0	0	1	0	0	0	5489	864	30	2	2017	2	FAM169A	5	74137459	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1766876	74137459	106777801	738	14010											
SV2C	22987	genome.wustl.edu	37	chr5	75505622	75505622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcctggcccgggaaaagCggggcgaacacttgagctgg	16	10	0	1	rs139844012		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:75505622C>T	ENST00000502798.2	+	4	1265	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SV2C_ENST00000322285.7_Missense_Mutation_p.R275W	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	275					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCGGGAAAAGCGGGGCGAACA	0.557													C|||	1	0.000199681	0	0	5008	,	,		16890	0		0.001	False		,,,				2504	0																0								ENSG00000122012						95	99	98					5																	75505622		2192	4298	6490	SV2C	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.823C>T	5.37:g.75505622C>T	ENSP00000423541:p.Arg275Trp	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	82	18.81	Q496K1|Q9UPU8	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.R275W	ENST00000502798.2	37	c.823	CCDS43331.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.4	4.139314	0.77775	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	D;D	0.82619	-1.63;-1.63	5.14	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95713	0.8759	10	0.87932	D	0	-20.6229	14.4578	0.67428	0.1484:0.8515:0.0:0.0	.	275	Q496J9	SV2C_HUMAN	W	275	ENSP00000423541:R275W;ENSP00000316983:R275W	ENSP00000316983:R275W	R	+	1	2	SV2C	75541378	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.447000	0.35101	1.119000	0.41883	0.591000	0.81541	CGG	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.557	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	protein_coding	OTTHUMT00000368700.4	C		rs139844012		75505622	1	no_errors	ENST00000502798	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75505622	C	T	75505622	3	4	196	1	0	0	0	0	1	0	0	0	15426	759	27	1	833	1	SV2C	5	75505622	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1368163	75505622	105409638	739	14011											
DMGDH	29958	genome.wustl.edu	37	chr5	78340285	78340285	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttcaaagctttcacttcaGatatagtcgatgtaacaaca	6	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:78340285G>A	ENST00000255189.3	-	6	864	c.836C>T	c.(835-837)tCt>tTt	p.S279F	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.S78F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	279			S -> P (in dbSNP:rs532964). {ECO:0000269|PubMed:10767172, ECO:0000269|PubMed:14702039}.		amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTCACTTCAGATATAGTCGA	0.413																																																	0								ENSG00000132837						118	106	110					5																	78340285		2203	4300	6503	DMGDH	SO:0001583	missense	0			-	HGNC	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.836C>T	5.37:g.78340285G>A	ENSP00000255189:p.Ser279Phe	Somatic	0	88	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	68	27.66	B2RBN0|B4E1J9	Missense_Mutation	SNP							pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.S279F	ENST00000255189.3	37	c.836	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485939	0.63962	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.31247	1.5;1.5;1.5	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	L	0.27053	0.805	0.80722	D	1	B;B;B	0.29341	0.092;0.204;0.242	B;B;B	0.37508	0.04;0.246;0.252	T	0.19943	-1.0290	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	78;129;279	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	F	279;118;78;129	ENSP00000255189:S279F;ENSP00000430972:S118F;ENSP00000369667:S78F	ENSP00000255189:S279F	S	-	2	0	DMGDH	78376041	1.000000	0.71417	0.579000	0.28588	0.798000	0.45092	9.658000	0.98594	2.641000	0.89580	0.650000	0.86243	TCT	-	pfam_FAD-dep_OxRdtase		0.413	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	protein_coding	OTTHUMT00000226963.3	G	NM_013391	-		78340285	-1	no_errors	ENST00000255189	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78340285	G	A	78340285	3	1	196	1	0	0	0	0	1	0	0	0	4583	942	33	2	1808	2	DMGDH	5	78340285	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2834663	78340285	102574975	740	14012											
JMY	133746	genome.wustl.edu	37	chr5	78586063	78586063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcaagatcttactgtcaaGtactttgaaataacagctaa	5	7	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:78586063G>T	ENST00000396137.4	+	3	1788	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	442					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TTACTGTCAAGTACTTTGAAA	0.358																																																	0								ENSG00000152409						98	96	97					5																	78586063		1847	4093	5940	JMY	SO:0001583	missense	0			-	HGNC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1326G>T	5.37:g.78586063G>T	ENSP00000379441:p.Lys442Asn	Somatic	0	91	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	72	33.94	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP							pfscan_WH2_dom	p.K442N	ENST00000396137.4	37	c.1326	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306847	0.40795	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.12774	2.65	5.32	0.418	0.16429	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	L	0.33137	0.985	0.46874	D	0.999239	D	0.89917	1.0	D	0.87578	0.998	T	0.12811	-1.0533	10	0.06625	T	0.88	.	9.7118	0.40249	0.6056:0.0:0.3944:0.0	.	442	Q8N9B5	JMY_HUMAN	N	442	ENSP00000379441:K442N	ENSP00000282259:K442N	K	+	3	2	JMY	78621819	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.737000	0.26144	0.338000	0.23692	-0.312000	0.09012	AAG	-	NULL		0.358	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	protein_coding	OTTHUMT00000254070.4	G	NM_152405	-		78586063	1	no_errors	ENST00000396137	ensembl	human	known	74_37	missense	SNP	0.997	T	T	78586063	G	T	78586063	3	4	196	1	0	0	0	0	1	0	0	0	7959	1020	36	3	1336	3	JMY	5	78586063	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	245778	78586063	102329197	741	14013											
CMYA5	202333	genome.wustl.edu	37	chr5	79025711	79025711	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatgaagcaaaaccacatGaagtggaacctccatctgtg	9	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:79025711G>A	ENST00000446378.2	+	2	1154	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	375					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)		AAAACCACATGAAGTGGAACC	0.478																																																	0								ENSG00000164309						93	92	92					5																	79025711		2158	4259	6417	CMYA5	SO:0001583	missense	0			-	HGNC	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.1123G>A	5.37:g.79025711G>A	ENSP00000394770:p.Glu375Lys	Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	51	27.14	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E375K	ENST00000446378.2	37	c.1123	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284864	0.40394	.	.	ENSG00000164309	ENST00000446378	T	0.39592	1.07	5.78	1.93	0.25924	.	1.194430	0.06043	N	0.655143	T	0.27933	0.0688	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.23726	-1.0180	10	0.38643	T	0.18	.	5.7381	0.18077	0.385:0.139:0.476:0.0	.	375	Q8N3K9	CMYA5_HUMAN	K	375	ENSP00000394770:E375K	ENSP00000394770:E375K	E	+	1	0	CMYA5	79061467	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.488000	0.22371	0.340000	0.23745	0.557000	0.71058	GAA	-	NULL		0.478	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	G	NM_153610	-		79025711	1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	SNP	0.000	A	A	79025711	G	A	79025711	3	1	196	1	0	0	0	0	1	0	0	0	3592	1291	45	2	1129	2	CMYA5	5	79025711	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	439648	79025711	101889549	742	14014											
CMYA5	202333	genome.wustl.edu	37	chr5	79030247	79030247	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatggaagaattctttAtttctccaaaggatgaaaac	6	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:79030247A>T	ENST00000446378.2	+	2	5690	c.5659A>T	c.(5659-5661)Att>Ttt	p.I1887F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1887					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)		AGAATTCTTTATTTCTCCAAA	0.393																																																	0								ENSG00000164309						54	53	54					5																	79030247		1845	4092	5937	CMYA5	SO:0001583	missense	0			-	HGNC	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.5659A>T	5.37:g.79030247A>T	ENSP00000394770:p.Ile1887Phe	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.I1887F	ENST00000446378.2	37	c.5659	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655603	0.67586	.	.	ENSG00000164309	ENST00000446378	T	0.06142	3.34	5.84	0.643	0.17770	.	0.267654	0.27031	N	0.021266	T	0.08403	0.0209	L	0.31926	0.97	0.09310	N	1	D	0.60575	0.988	P	0.54664	0.758	T	0.22556	-1.0213	10	0.37606	T	0.19	.	7.612	0.28135	0.3567:0.5533:0.09:0.0	.	1887	Q8N3K9	CMYA5_HUMAN	F	1887	ENSP00000394770:I1887F	ENSP00000394770:I1887F	I	+	1	0	CMYA5	79066003	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-0.281000	0.08456	0.096000	0.17463	0.528000	0.53228	ATT	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	A	NM_153610	-		79030247	1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	SNP	0.000	T	T	79030247	A	T	79030247	3	4	196	1	0	0	0	0	1	0	0	0	3592	449	16	5	5665	5	CMYA5	5	79030247	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	4536	79030247	101885013	743	14015											
SERINC5	256987	genome.wustl.edu	37	chr5	79439606	79439606	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggaccagctcccgctgaaGaagctctcgatgttggcact	11	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:79439606G>A	ENST00000507668.2	-	11	1389				SERINC5_ENST00000509193.1_Intron|SERINC5_ENST00000512721.1_Silent_p.F422F|SERINC5_ENST00000512972.2_Intron|CTC-458I2.2_ENST00000511484.1_RNA	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TCCCGCTGAAGAAGCTCTCGA	0.517																																																	0								ENSG00000164300																																			SERINC5	SO:0001627	intron_variant	0			-	HGNC	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"chromosome 5 open reading frame 12"	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.1238+2306C>T	5.37:g.79439606G>A		Somatic	0	38	0		0.52429534266604	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	B4DMH7|Q495A4|Q495A6	Silent	SNP							pfam_TMS_TDE	p.F422	ENST00000507668.2	37	c.1266	CCDS54873.1	5																																																																																			-	pfam_TMS_TDE		0.517	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	protein_coding		G	NM_178276	-		79439606	-1	no_errors	ENST00000512721	ensembl	human	novel	74_37	silent	SNP	1.000	A	A	79439606	G	A	79439606	1	1	196	0	1	0	0	0	0	0	0	0	14091	933	33	2		2	SERINC5	5	79439606	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	409359	79439606	101475654	744	14016											
RASGRF2	5924	genome.wustl.edu	37	chr5	80422965	80422965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatagccacagctgcagcagGacatgggagtccaccaggtg	13	11	0	0	rs542563671		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:80422965G>A	ENST00000265080.4	+	17	2736	c.2669G>A	c.(2668-2670)gGa>gAa	p.G890E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	890					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTGCAGCAGGACATGGGAGT	0.498																																																	0								ENSG00000113319						54	55	55					5																	80422965		2203	4300	6503	RASGRF2	SO:0001583	missense	0			-	HGNC	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2669G>A	5.37:g.80422965G>A	ENSP00000265080:p.Gly890Glu	Somatic	0	31	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B9EG89|Q9UK56	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G890E	ENST00000265080.4	37	c.2669	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221375	0.79464	.	.	ENSG00000113319	ENST00000265080	T	0.75367	-0.93	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.100083	0.64402	D	0.000001	D	0.82416	0.5032	M	0.65975	2.015	0.53005	D	0.999961	D	0.89917	1.0	D	0.91635	0.999	T	0.76919	-0.2781	10	0.02654	T	1	.	16.9338	0.86198	0.0:0.0:1.0:0.0	.	890	O14827	RGRF2_HUMAN	E	890	ENSP00000265080:G890E	ENSP00000265080:G890E	G	+	2	0	RASGRF2	80458721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.694000	0.74587	2.732000	0.93576	0.555000	0.69702	GGA	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N		0.498	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	protein_coding	OTTHUMT00000239215.2	G	NM_006909	-		80422965	1	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80422965	G	A	80422965	3	1	196	1	0	0	0	0	1	0	0	0	13081	1174	41	2	2735	2	RASGRF2	5	80422965	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	983359	80422965	100492295	745	14017											
VCAN	1462	genome.wustl.edu	37	chr5	82789387	82789387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgtttcactacagggcGgcaaccagcaggtacacact	11	11	1	0	rs142013663		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:82789387G>A	ENST00000265077.3	+	4	1033	c.468G>A	c.(466-468)gcG>gcA	p.A156A	VCAN_ENST00000502527.2_Silent_p.A156A|VCAN_ENST00000343200.5_Silent_p.A156A|VCAN_ENST00000342785.4_Silent_p.A156A|VCAN_ENST00000513984.1_Silent_p.A156A|VCAN_ENST00000512590.2_Silent_p.A108A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	156	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)	ACTACAGGGCGGCAACCAGCA	0.488																																																	0								ENSG00000038427	G	,,,	0,4406		0,0,2203	96	87	90		468,468,468,468	-11.6	0	5	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	156/656,156/2410,156/1643,156/3397	82789387	1,13005	2203	4300	6503	VCAN	SO:0001819	synonymous_variant	0			-	HGNC	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.468G>A	5.37:g.82789387G>A		Somatic	0	73	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	67	23.86	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A156	ENST00000265077.3	37	c.468	CCDS4060.1	5																																																																																			-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.488	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	G	NM_004385	rs142013663		82789387	1	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	SNP	0.000	A	A	82789387	G	A	82789387	2	1	196	1	0	0	0	0	0	0	0	1	17145	1103	39	1		1	VCAN	5	82789387	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2366422	82789387	98125873	746	14018											
GPR98	84059	genome.wustl.edu	37	chr5	89969915	89969915	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatattcctgaacttaaTgagtatttccgtgtgacatt	8	6	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:89969915T>G	ENST00000405460.2	+	23	5070	c.4974T>G	c.(4972-4974)aaT>aaG	p.N1658K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1658	Calx-beta 11. {ECO:0000255}.				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)			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)		CTGAACTTAATGAGTATTTCC	0.378																																																	0								ENSG00000164199						120	111	114					5																	89969915		1871	4105	5976	GPR98	SO:0001583	missense	0			-	HGNC	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.4974T>G	5.37:g.89969915T>G	ENSP00000384582:p.Asn1658Lys	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N1658K	ENST00000405460.2	37	c.4974	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179433	0.38511	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29655	1.56	5.07	3.9	0.45041	Na-Ca exchanger/integrin-beta4 (1);	0.327491	0.37530	N	0.002042	T	0.43478	0.1249	L	0.55481	1.735	0.80722	D	1	D	0.56521	0.976	D	0.67231	0.95	T	0.27157	-1.0082	10	0.48119	T	0.1	.	6.1775	0.20451	0.1425:0.0764:0.0:0.7811	.	1658	Q8WXG9	GPR98_HUMAN	K	1658	ENSP00000384582:N1658K	ENSP00000296619:N1658K	N	+	3	2	GPR98	90005671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.032000	0.30178	0.882000	0.36016	0.454000	0.30748	AAT	-	pfam_Calx_beta		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	T	NM_032119	-		89969915	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	0.998	G	G	89969915	T	G	89969915	3	3	196	1	0	0	0	0	1	0	0	0	6723	1461	51	5	5064	5	GPR98	5	89969915	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	7180528	89969915	90945345	747	14019											
GPR98	84059	genome.wustl.edu	37	chr5	89999575	89999575	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaaaatctagaactcaAttttgctaactttagcggac	8	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:89999575A>T	ENST00000405460.2	+	35	8345	c.8249A>T	c.(8248-8250)aAt>aTt	p.N2750I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2750	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				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)			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)		CTAGAACTCAATTTTGCTAAC	0.343																																																	0								ENSG00000164199						72	70	70					5																	89999575		1803	4077	5880	GPR98	SO:0001583	missense	0			-	HGNC	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.8249A>T	5.37:g.89999575A>T	ENSP00000384582:p.Asn2750Ile	Somatic	0	101	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	112	32.12	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N2750I	ENST00000405460.2	37	c.8249	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.97|12.97	2.096310|2.096310	0.36952|0.36952	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27557	.|1.66	5.15|5.15	2.74|2.74	0.32292|0.32292	.|.	.|0.179835	.|0.64402	.|D	.|0.000015	T|T	0.28830|0.28830	0.0715|0.0715	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.42556	.|0.76;0.783	.|B;B	.|0.40864	.|0.273;0.342	T|T	0.04103|0.04103	-1.0977|-1.0977	5|10	.|0.87932	.|D	.|0	.|.	7.2552|7.2552	0.26173|0.26173	0.6525:0.275:0.0725:0.0|0.6525:0.275:0.0725:0.0	.|.	.|2750;2750	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	F|I	316|2750	.|ENSP00000384582:N2750I	.|ENSP00000296619:N2750I	I|N	+|+	1|2	0|0	GPR98|GPR98	90035331|90035331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.827000|0.827000	0.27421|0.27421	0.425000|0.425000	0.26087|0.26087	0.528000|0.528000	0.53228|0.53228	ATT|AAT	-	NULL		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	A	NM_032119	-		89999575	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89999575	A	T	89999575	3	4	196	1	0	0	0	0	1	0	0	0	6723	101	4	5	8387	5	GPR98	5	89999575	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	29660	89999575	90915685	748	14020											
C5orf36	285600	genome.wustl.edu	37	chr5	93489826	93489826	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcatccttcttcatttcCcacctaaaagaaaaatcaca	2	12	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:93489826C>T	ENST00000513200.3	-	20	3786	c.3714G>A	c.(3712-3714)tgG>tgA	p.W1238*	KIAA0825_ENST00000427991.2_Nonsense_Mutation_p.W1238*	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	1238										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TCTTCATTTCCCACCTAAAAG	0.358																																																	0								ENSG00000185261						439	361	385					5																	93489826		692	1591	2283	KIAA0825	SO:0001587	stop_gained	0			-	HGNC	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.3714G>A	5.37:g.93489826C>T	ENSP00000424618:p.Trp1238*	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	48	26.15	O94914|Q6ZNN2	Nonsense_Mutation	SNP							NULL	p.W1238*	ENST00000513200.3	37	c.3714		5	.	.	.	.	.	.	.	.	.	.	C	39	7.368458	0.98241	.	.	ENSG00000185261	ENST00000513200;ENST00000427991	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	16.498	0.84250	0.0:1.0:0.0:0.0	.	.	.	.	X	1238	.	ENSP00000400288:W1238X	W	-	3	0	KIAA0825	93515582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.101000	0.57769	2.704000	0.92352	0.655000	0.94253	TGG	-	NULL		0.358	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	protein_coding	OTTHUMT00000254102.5	C	NM_173665	-		93489826	-1	no_errors	ENST00000427991	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	93489826	C	T	93489826	4	4	196	1	0	0	0	0	0	1	0	0	2297	624	22	2	117	2	C5orf36	5	93489826	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3490251	93489826	87425434	749	14021											
PCSK1	5122	genome.wustl.edu	37	chr5	95729033	95729033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacgctgctgctgctggggCttttggacaccagggtgttc	14	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:95729033C>A	ENST00000311106.3	-	14	2171	c.1934G>T	c.(1933-1935)aGc>aTc	p.S645I	PCSK1_ENST00000508626.1_Missense_Mutation_p.S598I|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	645					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCTGCTGGGGCTTTTGGACAC	0.537																																																	0								ENSG00000175426						58	62	61					5																	95729033		2203	4299	6502	PCSK1	SO:0001583	missense	0			-	HGNC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1934G>T	5.37:g.95729033C>A	ENSP00000308024:p.Ser645Ile	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	36	37.93	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.S645I	ENST00000311106.3	37	c.1934	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602962	0.28534	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.67698	-0.12;-0.28	5.62	1.57	0.23409	.	0.475365	0.22609	N	0.057841	T	0.33147	0.0853	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09292	-1.0681	10	0.30854	T	0.27	-5.4697	0.75	0.00989	0.2725:0.3598:0.1327:0.235	.	598;645	E9PHA1;P29120	.;NEC1_HUMAN	I	645;598	ENSP00000308024:S645I;ENSP00000421600:S598I	ENSP00000308024:S645I	S	-	2	0	PCSK1	95754789	0.000000	0.05858	0.408000	0.26446	0.015000	0.08874	0.236000	0.17967	0.270000	0.21984	0.655000	0.94253	AGC	-	NULL		0.537	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	protein_coding	OTTHUMT00000242851.1	C	NM_000439	-		95729033	-1	no_errors	ENST00000311106	ensembl	human	known	74_37	missense	SNP	0.028	A	A	95729033	C	A	95729033	3	1	196	1	0	0	0	0	1	0	0	0	11602	797	28	3	331	3	PCSK1	5	95729033	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2239207	95729033	85186227	750	14022											
ERAP1	51752	genome.wustl.edu	37	chr5	96127834	96127834	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggtgtagacacagggTgtgaggaatttaaagcatct	12	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:96127834T>A	ENST00000443439.2	-	8	1316	c.1250A>T	c.(1249-1251)cAc>cTc	p.H417L	ERAP1_ENST00000296754.3_Missense_Mutation_p.H417L	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	417					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGACACAGGGTGTGAGGAATT	0.363																																																	0								ENSG00000164307						137	135	136					5																	96127834		2203	4300	6503	ERAP1	SO:0001583	missense	0			-	HGNC	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1250A>T	5.37:g.96127834T>A	ENSP00000406304:p.His417Leu	Somatic	0	77	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	58	27.16	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H417L	ENST00000443439.2	37	c.1250	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992128	0.93167	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.03152	4.03;4.03	5.86	5.86	0.93980	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.91354	3.2	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.976;0.993;0.988	T	0.07083	-1.0791	10	0.87932	D	0	.	15.9283	0.79639	0.0:0.0:0.0:1.0	.	417;417;417	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	L	417	ENSP00000296754:H417L;ENSP00000406304:H417L	ENSP00000296754:H417L	H	-	2	0	ERAP1	96153590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.854000	0.55949	2.240000	0.73641	0.533000	0.62120	CAC	-	pfam_Peptidase_M1_N		0.363	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	protein_coding	OTTHUMT00000370699.1	T	NM_016442	-		96127834	-1	no_errors	ENST00000296754	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96127834	T	A	96127834	3	1	196	1	0	0	0	0	1	0	0	0	5205	1696	59	5	1656	5	ERAP1	5	96127834	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	398801	96127834	84787426	751	14023											
APC	324	genome.wustl.edu	37	chr5	112178969	112178969	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacattcatcatcccttcctCgagtaagcacttggagaaga	7	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:112178969C>T	ENST00000457016.1	+	16	8058	c.7678C>T	c.(7678-7680)Cga>Tga	p.R2560*	APC_ENST00000257430.4_Nonsense_Mutation_p.R2560*|APC_ENST00000508376.2_Nonsense_Mutation_p.R2560*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2560	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCCCTTCCTCGAGTAAGCAC	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)						ENSG00000134982						84	84	84					5																	112178969		2202	4300	6502	APC	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	-	HGNC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7678C>T	5.37:g.112178969C>T	ENSP00000413133:p.Arg2560*	Somatic	0	52	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	26.79	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP							pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R2560*	ENST00000457016.1	37	c.7678	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	49	15.807066	0.99845	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	5.18	0.71444	.	0.053706	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.902	16.5302	0.84355	0.1317:0.8683:0.0:0.0	.	.	.	.	X	2560	.	.	R	+	1	2	APC	112206868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.352000	0.52239	1.512000	0.48834	0.655000	0.94253	CGA	-	pfam_APC_basic_dom		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	C	NM_000038	-		112178969	1	no_errors	ENST00000257430	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	112178969	C	T	112178969	4	4	196	1	0	0	0	0	0	1	0	0	763	876	31	1	7736	1	APC	5	112178969	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	16051135	112178969	68736291	752	14024											
YTHDC2	64848	genome.wustl.edu	37	chr5	112860746	112860746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctcatgcaatgatgaCctgtaatttgactcataata	6	8	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:112860746C>T	ENST00000161863.4	+	3	560	c.347C>T	c.(346-348)aCc>aTc	p.T116I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.T116I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	116					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAATGATGACCTGTAATTTG	0.333																																																	0								ENSG00000047188						94	89	91					5																	112860746		2202	4300	6502	YTHDC2	SO:0001583	missense	0			-	HGNC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.347C>T	5.37:g.112860746C>T	ENSP00000161863:p.Thr116Ile	Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	77	19.79	B2RP66	Missense_Mutation	SNP							pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T116I	ENST00000161863.4	37	c.347	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682424	0.47991	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	T;T	0.06933	4.23;3.24	5.74	5.74	0.90152	.	0.328994	0.32819	N	0.005606	T	0.10766	0.0263	L	0.36672	1.1	0.39178	D	0.962735	B	0.13145	0.007	B	0.17098	0.017	T	0.10730	-1.0617	10	0.49607	T	0.09	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	116	Q9H6S0	YTDC2_HUMAN	I	116;116;56;26	ENSP00000161863:T116I;ENSP00000423101:T116I	ENSP00000161863:T116I	T	+	2	0	YTHDC2	112888645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.804000	0.47931	2.703000	0.92315	0.655000	0.94253	ACC	-	NULL		0.333	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	protein_coding	OTTHUMT00000250776.2	C	NM_022828	-		112860746	1	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112860746	C	T	112860746	3	4	196	1	0	0	0	0	1	0	0	0	17504	507	18	2	357	2	YTHDC2	5	112860746	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	681777	112860746	68054514	753	14025											
TRIM36	55521	genome.wustl.edu	37	chr5	114466386	114466386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgaatatggttccacacGgaaggcccagaagtgttttc	11	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:114466386G>A	ENST00000282369.3	-	9	1856	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	TRIM36_ENST00000513154.1_Missense_Mutation_p.R567C|TRIM36_ENST00000514154.1_Missense_Mutation_p.R424C	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	579	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTTCCACACGGAAGGCCCAG	0.458																																																	0								ENSG00000152503						159	153	155					5																	114466386		2202	4300	6502	TRIM36	SO:0001583	missense	0			-	HGNC	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1735C>T	5.37:g.114466386G>A	ENSP00000282369:p.Arg579Cys	Somatic	0	67	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	45	46.51	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP							pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R579C	ENST00000282369.3	37	c.1735	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694181	0.68386	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.70282	-0.47;-0.47;-0.47	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.208186	0.49305	D	0.000157	T	0.76176	0.3951	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64877	0.825;0.93	T	0.76691	-0.2866	10	0.56958	D	0.05	.	9.6626	0.39965	0.071:0.0:0.7874:0.1416	.	567;579	E9PFI8;Q9NQ86	.;TRI36_HUMAN	C	579;567;424	ENSP00000282369:R579C;ENSP00000423934:R567C;ENSP00000424259:R424C	ENSP00000282369:R579C	R	-	1	0	TRIM36	114494285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.161000	0.58170	2.695000	0.91970	0.563000	0.77884	CGT	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	protein_coding	OTTHUMT00000250854.2	G	NM_018700	-		114466386	-1	no_errors	ENST00000282369	ensembl	human	known	74_37	missense	SNP	0.985	A	A	114466386	G	A	114466386	3	1	196	1	0	0	0	0	1	0	0	0	16517	1116	39	1	459	1	TRIM36	5	114466386	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1605640	114466386	66448874	754	14026											
SNCAIP	9627	genome.wustl.edu	37	chr5	121786794	121786794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccacagcccatctcccaCctcagagagcagcgaaccag	9	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:121786794C>T	ENST00000261368.8	+	10	2514	c.2252C>T	c.(2251-2253)aCc>aTc	p.T751I	SNCAIP_ENST00000379538.3_Missense_Mutation_p.T385I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.T353I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T798I|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.T309I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.T798I|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T691I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	751					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)		CCATCTCCCACCTCAGAGAGC	0.562																																																	0								ENSG00000064692						81	85	84					5																	121786794		2203	4300	6503	SNCAIP	SO:0001583	missense	0			-	HGNC	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.2252C>T	5.37:g.121786794C>T	ENSP00000261368:p.Thr751Ile	Somatic	0	40	0		0.52429534266604	14	39.13	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	19.44	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T798I	ENST00000261368.8	37	c.2393	CCDS4131.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675621|4.675621	0.88445|0.88445	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000447854|ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	.|T;T;T;T;T;T;T;T	.|0.18016	.|4.15;4.67;2.31;2.24;4.66;4.56;2.24;4.36	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.050251	.|0.85682	.|D	.|0.000000	T|T	0.47801|0.47801	0.1465|0.1465	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.998;0.997;0.987;0.983;0.999;0.989;0.994;0.975	T|T	0.39623|0.39623	-0.9605|-0.9605	6|10	0.87932|0.87932	D|D	0|0	-25.2435|-25.2435	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|691;379;353;691;385;385;798;751	.|D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.|.;.;.;.;.;.;.;SNCAP_HUMAN	S|I	374|309;691;751;798;691;385;798;353	.|ENSP00000441681:T309I;ENSP00000422106:T691I;ENSP00000261368:T751I;ENSP00000368848:T798I;ENSP00000368851:T691I;ENSP00000368854:T385I;ENSP00000261367:T798I;ENSP00000394392:T353I	ENSP00000416985:P374S|ENSP00000261367:T798I	P|T	+|+	1|2	0|0	SNCAIP|SNCAIP	121814693|121814693	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.469000|7.469000	0.80959|0.80959	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCT|ACC	-	NULL		0.562	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	protein_coding	OTTHUMT00000250888.1	C		-		121786794	1	no_errors	ENST00000379533	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121786794	C	T	121786794	3	4	196	1	0	0	0	0	1	0	0	0	14849	507	18	2	2286	2	SNCAIP	5	121786794	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7320408	121786794	59128466	755	14027											
FBN2	2201	genome.wustl.edu	37	chr5	127674749	127674749	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaaatcctgcactcgtcGatgtctaattcacagggttt	10	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:127674749G>A	ENST00000508053.1	-	32	4322	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_ENST00000262464.4_Silent_p.I1116I|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.I1083I			P35556	FBN2_HUMAN	fibrillin 2	1116	EGF-like 16; 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)			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)		TGCACTCGTCGATGTCTAATT	0.458																																																	0								ENSG00000138829						73	67	69					5																	127674749		2203	4300	6503	FBN2	SO:0001819	synonymous_variant	0			-	HGNC	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.3348C>T	5.37:g.127674749G>A		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	B4DU01|Q59ES6	Silent	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.I1116	ENST00000508053.1	37	c.3348	CCDS34222.1	5																																																																																			-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	G	NM_001999	-		127674749	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	SNP	0.922	A	A	127674749	G	A	127674749	2	1	196	1	0	0	0	0	0	0	0	1	5705	1048	37	1		1	FBN2	5	127674749	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5887955	127674749	53240511	756	14028											
FBN2	2201	genome.wustl.edu	37	chr5	127681107	127681107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcaaagccagccccgcgGgggcacagcgtctcgtattc	12	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:127681107G>A	ENST00000508053.1	-	30	4133	c.3159C>T	c.(3157-3159)ccC>ccT	p.P1053P	FBN2_ENST00000262464.4_Silent_p.P1053P|FBN2_ENST00000508989.1_Silent_p.P1020P			P35556	FBN2_HUMAN	fibrillin 2	1053					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)			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)		CAGCCCCGCGGGGGCACAGCG	0.617																																																	0								ENSG00000138829						83	88	87					5																	127681107		2203	4300	6503	FBN2	SO:0001819	synonymous_variant	0			-	HGNC	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.3159C>T	5.37:g.127681107G>A		Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	67	37.96	B4DU01|Q59ES6	Silent	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P1053	ENST00000508053.1	37	c.3159	CCDS34222.1	5																																																																																			-	pirsf_FBN,superfamily_TB_dom		0.617	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	G	NM_001999	-		127681107	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	SNP	0.992	A	A	127681107	G	A	127681107	2	1	196	1	0	0	0	0	0	0	0	1	5705	1219	43	2		2	FBN2	5	127681107	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6358	127681107	53234153	757	14029											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128983562	128983562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaacctgcagtgctgggatCagcagtcgagagcgcaaatg	14	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:128983562C>T	ENST00000274487.4	+	12	2104	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	653	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCTGGGATCAGCAGTCGAG	0.517																																																	0								ENSG00000145808						142	139	140					5																	128983562		2203	4300	6503	ADAMTS19	SO:0001819	synonymous_variant	0			-	HGNC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1959C>T	5.37:g.128983562C>T		Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	71	16.47		Silent	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I653	ENST00000274487.4	37	c.1959	CCDS4146.1	5																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS		0.517	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	protein_coding	OTTHUMT00000250979.2	C	NM_133638	-		128983562	1	no_errors	ENST00000274487	ensembl	human	known	74_37	silent	SNP	1.000	T	T	128983562	C	T	128983562	2	4	196	1	0	0	0	0	0	0	0	1	264	816	29	2		2	ADAMTS19	5	128983562	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1302455	128983562	51931698	758	14030											
CHSY3	337876	genome.wustl.edu	37	chr5	129520880	129520880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtaccagaacaagtaccCcaaagcagaaatgaccctga	9	11	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:129520880C>T	ENST00000305031.4	+	3	2403	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	682					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AACAAGTACCCCAAAGCAGAA	0.443																																																	0								ENSG00000198108						71	66	68					5																	129520880		2203	4300	6503	CHSY3	SO:0001583	missense	0			-	HGNC	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2045C>T	5.37:g.129520880C>T	ENSP00000302629:p.Pro682Leu	Somatic	0	25	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP							pfam_Chond_GalNAc,pfam_Fringe-like	p.P682L	ENST00000305031.4	37	c.2045	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414556	0.62511	.	.	ENSG00000198108	ENST00000305031	T	0.18174	2.23	4.12	4.12	0.48240	.	0.000000	0.53938	D	0.000045	T	0.27313	0.0670	M	0.70595	2.14	0.80722	D	1	P	0.42123	0.771	B	0.44224	0.444	T	0.06807	-1.0806	9	.	.	.	-9.454	17.6798	0.88239	0.0:1.0:0.0:0.0	.	682	Q70JA7	CHSS3_HUMAN	L	682	ENSP00000302629:P682L	.	P	+	2	0	CHSY3	129548779	1.000000	0.71417	0.961000	0.40146	0.940000	0.58332	7.606000	0.82863	2.559000	0.86315	0.650000	0.86243	CCC	-	pfam_Chond_GalNAc		0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	protein_coding	OTTHUMT00000371453.1	C	NM_175856	-		129520880	1	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129520880	C	T	129520880	3	4	196	1	0	0	0	0	1	0	0	0	3415	623	22	2	2055	2	CHSY3	5	129520880	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	537318	129520880	51394380	759	14031											
ACSL6	23305	genome.wustl.edu	37	chr5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctgatgattccactccGgacctcggcttgcttacgct	8	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:131308476G>A	ENST00000379240.1	-	13	1357	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379264.2_Missense_Mutation_p.R427W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	402					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438																																																	0								ENSG00000164398						95	95	95					5																	131308476		2203	4300	6503	ACSL6	SO:0001583	missense	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1204C>T	5.37:g.131308476G>A	ENSP00000368542:p.Arg402Trp	Somatic	0	50	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	50	29.58	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.R427W	ENST00000379240.1	37	c.1279		5	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513331	0.64522	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.143269	0.64402	D	0.000006	T	0.50633	0.1627	M	0.79693	2.465	0.48975	D	0.999731	P;D;D;P;D;D;D	0.64830	0.943;0.992;0.994;0.954;0.971;0.992;0.992	P;P;P;P;P;P;P	0.55011	0.655;0.655;0.67;0.766;0.54;0.655;0.655	T	0.51340	-0.8718	10	0.66056	D	0.02	.	20.6437	0.99549	0.0:0.0:1.0:0.0	.	402;417;392;402;327;427;427	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	W	402;427;417;327;327;427;413;402;311;402;382;402	ENSP00000368551:R402W;ENSP00000368566:R427W;ENSP00000368574:R417W;ENSP00000349608:R327W;ENSP00000368557:R327W;ENSP00000296869:R427W;ENSP00000368548:R413W;ENSP00000368546:R402W;ENSP00000445154:R311W;ENSP00000368542:R402W;ENSP00000413329:R382W;ENSP00000442124:R402W	ENSP00000296869:R427W	R	-	1	2	ACSL6	131336375	1.000000	0.71417	0.862000	0.33874	0.002000	0.02628	6.075000	0.71261	2.890000	0.99128	0.650000	0.86243	CGG	-	pfam_AMP-dep_Synth/Lig		0.438	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	G	NM_015256	-		131308476	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	SNP	0.954	A	A	131308476	G	A	131308476	3	1	196	1	0	0	0	0	1	0	0	0	181	1115	39	1	925	1	ACSL6	5	131308476	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1787596	131308476	49606784	760	14032											
ACSL6	23305	genome.wustl.edu	37	chr5	131309055	131309055	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggcggatatctccctgGaagaagccaacacgccctcc	10	14	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:131309055G>A	ENST00000379240.1	-	12	1185	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379249.3_Silent_p.F344F|ACSL6_ENST00000379272.2_Silent_p.F359F|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379264.2_Silent_p.F369F|ACSL6_ENST00000379246.1_Silent_p.F355F|ACSL6_ENST00000296869.4_Silent_p.F369F|ACSL6_ENST00000379244.1_Silent_p.F344F|ACSL6_ENST00000544770.1_Silent_p.F253F|ACSL6_ENST00000543479.1_Silent_p.F344F|ACSL6_ENST00000431707.1_Silent_p.F324F			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	344					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATCTCCCTGGAAGAAGCCAA	0.542																																																	0								ENSG00000164398						98	84	89					5																	131309055		2203	4300	6503	ACSL6	SO:0001819	synonymous_variant	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1032C>T	5.37:g.131309055G>A		Somatic	0	25	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.F369	ENST00000379240.1	37	c.1107		5																																																																																			-	pfam_AMP-dep_Synth/Lig		0.542	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	G	NM_015256	-		131309055	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	silent	SNP	1.000	A	A	131309055	G	A	131309055	2	1	196	1	0	0	0	0	0	0	0	1	181	1165	41	2		2	ACSL6	5	131309055	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	579	131309055	49606205	761	14033											
SLC22A5	6584	genome.wustl.edu	37	chr5	131719897	131719897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacaggcttcagcttcCtgcagatcttctcgaagaat	9	11	3	3	rs569496252	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:131719897C>T	ENST00000245407.3	+	3	777	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	SLC22A5_ENST00000435065.2_Silent_p.L210L	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	186			L -> P (in CDSP). {ECO:0000269|PubMed:20574985}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTTCAGCTTCCTGCAGATCTT	0.493													C|||	2	0.000399361	0	0	5008	,	,		21832	0		0	False		,,,				2504	0.002																0								ENSG00000197375						217	195	202					5																	131719897		2203	4300	6503	SLC22A5	SO:0001819	synonymous_variant	0			-	HGNC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.556C>T	5.37:g.131719897C>T		Somatic	0	98	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	73	35.96	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L210	ENST00000245407.3	37	c.628	CCDS4154.1	5																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.493	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	protein_coding	OTTHUMT00000132631.1	C	NM_003060	-		131719897	1	no_errors	ENST00000435065	ensembl	human	known	74_37	silent	SNP	0.994	T	T	131719897	C	T	131719897	2	4	196	1	0	0	0	0	0	0	0	1	14465	680	24	2		2	SLC22A5	5	131719897	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	410842	131719897	49195363	762	14034											
PHF15	23338	genome.wustl.edu	37	chr5	133914743	133914743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgcagcaagccctaaGcctttgggccggctccggcc	13	17	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:133914743G>A	ENST00000282605.4	+	12	2327	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	PHF15_ENST00000361895.2_Silent_p.K704K|PHF15_ENST00000395003.1_Silent_p.K703K|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGCCCTAAGCCTTTGGGCC	0.667																																																	0								ENSG00000043143						45	54	51					5																	133914743		2203	4300	6503	PHF15	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000282605.4:c.2241G>A	5.37:g.133914743G>A		Somatic	0	44	0		0.52429534266604	13	38.1	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21		Silent	SNP							pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K703	ENST00000282605.4	37	c.2109		5																																																																																			-	NULL		0.667	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	protein_coding	OTTHUMT00000251170.1	G		-		133914743	1	no_errors	ENST00000395003	ensembl	human	known	74_37	silent	SNP	0.995	A	A	133914743	G	A	133914743	2	1	196	1	0	0	0	0	0	0	0	1	11828	962	34	2		2	PHF15	5	133914743	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2194846	133914743	47000517	763	14035											
TRPC7	57113	genome.wustl.edu	37	chr5	135587462	135587462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgaagcgtgctgtgaagGaggccacgaagatggacagc	15	9	0	3	rs376083475		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:135587462G>A	ENST00000513104.1	-	6	1736	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	TRPC7_ENST00000426057.2_Missense_Mutation_p.S369F|TRPC7_ENST00000355180.3_Missense_Mutation_p.S424F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	485					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCTGTGAAGGAGGCCACGAA	0.592																																																	0								ENSG00000069018						71	79	77					5																	135587462		2130	4243	6373	TRPC7	SO:0001583	missense	0			-	HGNC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1454C>T	5.37:g.135587462G>A	ENSP00000426070:p.Ser485Phe	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	70	27.08	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S485F	ENST00000513104.1	37	c.1454	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	31	5.071635	0.93950	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.98684	-5.07;-5.07;-5.07	4.91	4.91	0.64330	Ion transport (1);	0.184765	0.49305	D	0.000147	D	0.98988	0.9655	M	0.86343	2.81	0.80722	D	1	B;P;P;P	0.45569	0.389;0.725;0.861;0.861	B;P;P;P	0.54401	0.403;0.557;0.751;0.751	D	0.99848	1.1068	10	0.87932	D	0	-20.9628	18.294	0.90139	0.0:0.0:1.0:0.0	.	369;424;430;485	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	F	424;369;485;485	ENSP00000347312:S424F;ENSP00000441628:S369F;ENSP00000426070:S485F	ENSP00000265193:S485F	S	-	2	0	TRPC7	135615361	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.583000	0.98217	2.563000	0.86464	0.650000	0.86243	TCC	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.592	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	G	NM_020389	-		135587462	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135587462	G	A	135587462	3	1	196	1	0	0	0	0	1	0	0	0	16591	1174	41	2	1162	2	TRPC7	5	135587462	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1672719	135587462	45327798	764	14036											
TRPC7	57113	genome.wustl.edu	37	chr5	135692516	135692516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgctcgatgcgggcgCccttgagcagcaggatgtgc	18	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:135692516C>T	ENST00000513104.1	-	2	842	c.560G>A	c.(559-561)gGc>gAc	p.G187D	TRPC7_ENST00000426057.2_Missense_Mutation_p.G187D|TRPC7_ENST00000355180.3_Missense_Mutation_p.G187D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	187					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGCGGGCGCCCTTGAGCAG	0.617																																																	0								ENSG00000069018						96	104	101					5																	135692516		2201	4292	6493	TRPC7	SO:0001583	missense	0			-	HGNC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.560G>A	5.37:g.135692516C>T	ENSP00000426070:p.Gly187Asp	Somatic	0	15	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.G187D	ENST00000513104.1	37	c.560	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349737	0.82132	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79033	-1.23;-1.23;-1.23	5.26	5.26	0.73747	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.83384	2.64	0.51233	D	0.999911	D;D;D;D	0.89917	1.0;0.999;0.987;0.995	D;D;D;D	0.87578	0.998;0.98;0.948;0.962	D	0.88397	0.3012	10	0.42905	T	0.14	-17.2625	19.0783	0.93171	0.0:1.0:0.0:0.0	.	187;187;187;187	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	D	187	ENSP00000347312:G187D;ENSP00000441628:G187D;ENSP00000426070:G187D	ENSP00000265193:G187D	G	-	2	0	TRPC7	135720415	1.000000	0.71417	0.994000	0.49952	0.666000	0.39218	7.651000	0.83577	2.731000	0.93534	0.650000	0.86243	GGC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel		0.617	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	C	NM_020389	-		135692516	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135692516	C	T	135692516	3	4	196	1	0	0	0	0	1	0	0	0	16591	739	26	2	2072	2	TRPC7	5	135692516	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	105054	135692516	45222744	765	14037											
KDM3B	51780	genome.wustl.edu	37	chr5	137766111	137766111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgctggagccccacaCcaggtgggttcctgcttggg	13	13	0	0	rs541133556		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:137766111C>T	ENST00000314358.5	+	22	5267	c.5067C>T	c.(5065-5067)caC>caT	p.H1689H	KDM3B_ENST00000394866.1_Silent_p.H1345H|KDM3B_ENST00000542866.1_Silent_p.H721H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1689	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						GAGCCCCACACCAGGTGGGTT	0.502													C|||	1	0.000199681	0	0	5008	,	,		16839	0.001		0	False		,,,				2504	0																0								ENSG00000120733						108	103	105					5																	137766111		2203	4300	6503	KDM3B	SO:0001819	synonymous_variant	0			-	HGNC	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.5067C>T	5.37:g.137766111C>T		Somatic	0	53	0		0.52429534266604	20	20	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.H1689	ENST00000314358.5	37	c.5067	CCDS34242.1	5																																																																																			-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.502	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	protein_coding	OTTHUMT00000373597.1	C	NM_016604	-		137766111	1	no_errors	ENST00000314358	ensembl	human	known	74_37	silent	SNP	1.000	T	T	137766111	C	T	137766111	2	4	196	1	0	0	0	0	0	0	0	1	8129	506	18	2		2	KDM3B	5	137766111	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2073595	137766111	43149149	766	14038											
ANKHD1	54882	genome.wustl.edu	37	chr5	139905961	139905961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtgaattcctctaaaTacccctcactgctccttcat	5	13	3	1	rs200665904		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:139905961T>A	ENST00000360839.2	+	26	5027	c.4873T>A	c.(4873-4875)Tac>Aac	p.Y1625N	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.Y8N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.Y1625N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y1625N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1625						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTCTAAATACCCCTCACT	0.403																																																	0								ENSG00000131503						120	127	125					5																	139905961		2203	4300	6503	ANKHD1	SO:0001583	missense	0			-	HGNC	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4873T>A	5.37:g.139905961T>A	ENSP00000354085:p.Tyr1625Asn	Somatic	0	74	0		0.52429534266604	24	33.33	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	72	24.21	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Y1625N	ENST00000360839.2	37	c.4873	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.47|15.47	2.844094|2.844094	0.51164|0.51164	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	.|T;T;T;T;T;T	.|0.30182	.|2.0;2.0;2.0;2.0;1.54;2.0	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.488345	.|0.22175	.|N	.|0.063599	T|T	0.25606|0.25606	0.0623|0.0623	L|L	0.40543|0.40543	1.245|1.245	0.40698|0.40698	D|D	0.982458|0.982458	.|B;B;B;B;B;B	.|0.33000	.|0.393;0.112;0.079;0.018;0.01;0.01	.|B;B;B;B;B;B	.|0.25884	.|0.063;0.047;0.064;0.031;0.014;0.014	T|T	0.06180|0.06180	-1.0841|-1.0841	5|10	.|0.41790	.|T	.|0.15	.|.	15.082|15.082	0.72122|0.72122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|8;55;1625;1625;1625;1625	.|Q8IWG5;Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	K|N	115;75|1625;1625;1625;281;60;147;8;1625	.|ENSP00000354085:Y1625N;ENSP00000297183:Y1625N;ENSP00000393204:Y281N;ENSP00000390034:Y147N;ENSP00000437687:Y8N;ENSP00000432016:Y1625N	.|ENSP00000432016:Y1625N	I|Y	+|+	2|1	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139886145|139886145	1.000000|1.000000	0.71417|0.71417	0.351000|0.351000	0.25721|0.25721	0.729000|0.729000	0.41735|0.41735	4.566000|4.566000	0.60843|0.60843	1.971000|1.971000	0.57363|0.57363	0.455000|0.455000	0.32223|0.32223	ATA|TAC	-	NULL		0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	protein_coding	OTTHUMT00000251672.1	T	NM_017747	-		139905961	1	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	SNP	0.996	A	A	139905961	T	A	139905961	3	1	196	1	0	0	0	0	1	0	0	0	628	1406	49	5	5081	5	ANKHD1	5	139905961	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2139850	139905961	41009299	767	14039											
HARS	3035	genome.wustl.edu	37	chr5	140056691	140056691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcagctgttccaccagGgataccccacctggggagac	13	13	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140056691G>A	ENST00000504156.1	-	9	1553	c.834C>T	c.(832-834)tcC>tcT	p.S278S	HARS_ENST00000457527.2_Silent_p.S258S|HARS_ENST00000504366.1_Silent_p.S209S|HARS_ENST00000431330.2_Silent_p.S164S|HARS_ENST00000415192.2_Silent_p.S204S|HARS_ENST00000307633.3_Silent_p.S218S|HARS_ENST00000438307.2_Silent_p.S238S|HARS_ENST00000448240.1_Silent_p.S83S	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	278					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTTCCACCAGGGATACCCCAC	0.532																																																	0								ENSG00000170445						157	167	164					5																	140056691		2203	4300	6503	HARS	SO:0001819	synonymous_variant	0			-	HGNC	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.834C>T	5.37:g.140056691G>A		Somatic	0	16	0		0.52429534266604	208	34.38	109	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.00	B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase	p.S278	ENST00000504156.1	37	c.834	CCDS4237.1	5																																																																																			-	pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	protein_coding	OTTHUMT00000251673.2	G	NM_002109	-		140056691	-1	no_errors	ENST00000504156	ensembl	human	known	74_37	silent	SNP	0.972	A	A	140056691	G	A	140056691	2	1	196	1	0	0	0	0	0	0	0	1	6961	1219	43	2		2	HARS	5	140056691	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	150730	140056691	40858569	768	14040											
PCDHA3	56145	genome.wustl.edu	37	chr5	140181134	140181134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggccgctgcaggttttcCatgtggaggtggaagtgaag	16	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140181134C>T	ENST00000522353.2	+	1	352	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H118Y|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	118	Cadherin 1. {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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTTTCCATGTGGAGGT	0.542																																																	0								ENSG00000255408						119	132	128					5																	140181134		2203	4300	6503	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.352C>T	5.37:g.140181134C>T	ENSP00000429808:p.His118Tyr	Somatic	0	110	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	104	24.64	O75286	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H118Y	ENST00000522353.2	37	c.352	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	13.95	2.388794	0.42308	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.37584	1.19;1.19	4.35	3.48	0.39840	Cadherin (3);Cadherin-like (1);	0.161832	0.28510	N	0.015100	T	0.43787	0.1263	L	0.58302	1.8	0.26512	N	0.97457	P;P	0.35481	0.504;0.486	P;B	0.45343	0.477;0.133	T	0.40720	-0.9548	10	0.56958	D	0.05	.	11.9995	0.53222	0.0:0.9147:0.0:0.0853	.	118;118	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Y	118	ENSP00000429808:H118Y;ENSP00000434086:H118Y	ENSP00000429808:H118Y	H	+	1	0	PCDHA3	140161318	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.142000	0.10311	0.960000	0.38005	0.467000	0.42956	CAT	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.542	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	C	NM_018906	-		140181134	1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	0.999	T	T	140181134	C	T	140181134	3	4	196	1	0	0	0	0	1	0	0	0	11527	594	21	2	354	2	PCDHA3	5	140181134	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	124443	140181134	40734126	769	14041											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221343	140221343	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgtttgtttcagaatccaGaatgccagactctcggtttc	9	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140221343G>A	ENST00000531613.1	+	1	437	c.437G>A	c.(436-438)aGa>aAa	p.R146K	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R146K|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	146					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)			TCAGAATCCAGAATGCCAGAC	0.502																																																	0								ENSG00000204962						89	96	94					5																	140221343		2203	4300	6503	PCDHA8	SO:0001583	missense	0			-	HGNC	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.437G>A	5.37:g.140221343G>A	ENSP00000434655:p.Arg146Lys	Somatic	0	76	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	74	28.16	B9EGT7|O75281	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R146K	ENST00000531613.1	37	c.437	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127282	0.56721	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.50548	0.74;0.74	3.72	2.82	0.32997	Cadherin (2);Cadherin-like (1);	0.178376	0.26414	U	0.024518	T	0.37489	0.1005	L	0.45228	1.405	0.09310	N	1	B;B	0.20164	0.013;0.042	B;B	0.29077	0.098;0.056	T	0.17684	-1.0361	10	0.25106	T	0.35	.	8.5284	0.33319	0.1201:0.0:0.8799:0.0	.	146;146	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	146	ENSP00000434655:R146K;ENSP00000367363:R146K	ENSP00000367363:R146K	R	+	2	0	PCDHA8	140201527	0.000000	0.05858	0.402000	0.26371	0.923000	0.55619	0.288000	0.18939	1.794000	0.52575	0.552000	0.68991	AGA	-	pfam_Cadherin,superfamily_Cadherin-like		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	G	NM_018911	-		140221343	1	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	SNP	0.023	A	A	140221343	G	A	140221343	3	1	196	1	0	0	0	0	1	0	0	0	11532	942	33	2	439	2	PCDHA8	5	140221343	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	40209	140221343	40693917	770	14042											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229445	140229445	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgacaacgcaccagcgttCgcgcagtccgagtacacggt	11	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140229445C>T	ENST00000532602.1	+	1	2398	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.F455F|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	455	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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCGTTCGCGCAGTCCG	0.672																																					Melanoma(55;1800 1972 14909)												0								ENSG00000204961						88	82	84					5																	140229445		2196	4269	6465	PCDHA9	SO:0001819	synonymous_variant	0			-	HGNC	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1365C>T	5.37:g.140229445C>T		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	64	31.18	O15053|Q2M3S5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F455	ENST00000532602.1	37	c.1365	CCDS54920.1	5																																																																																			-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	protein_coding	OTTHUMT00000372896.2	C	NM_031857	-		140229445	1	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	SNP	0.083	T	T	140229445	C	T	140229445	2	4	196	1	0	0	0	0	0	0	0	1	11533	883	31	1		1	PCDHA9	5	140229445	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8102	140229445	40685815	771	14043											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250272	140250272	+	Silent	SNP	G	G	A													ttggaccacgaggagctggaGctgctacagttccaggtgag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140250272G>A	ENST00000398640.2	+	1	1584	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	528	Cadherin 5. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGGAGCTGCTACAGT	0.682																																																	0								ENSG00000249158						64	71	69					5																	140250272		2200	4297	6497	PCDHA11	SO:0001819	synonymous_variant	0			-	HGNC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1584G>A	5.37:g.140250272G>A		Somatic	0	89	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	97	32.41	B2RN58|O75279	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E528	ENST00000398640.2	37	c.1584	CCDS47284.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	protein_coding	OTTHUMT00000372885.2	G	NM_018902	-		140250272	1	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	SNP	0.989	A	A	140250272	G	A	140250272	2	1	196	1	0	0	0	0	0	0	0	1	11523	962	34	2		2	PCDHA11	5	140250272	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	20827	140250272	40664988	772	14044	265	2									
PCDHA11	56138	genome.wustl.edu	37	chr5	140250273	140250273	+	Silent	SNP	C	C	T													tggaccacgaggagctggagCtgctacagttccaggtgagc					rs372501884		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140250273C>T	ENST00000398640.2	+	1	1585	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	529	Cadherin 5. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGAGCTGCTACAGTT	0.687																																																	0								ENSG00000249158						64	71	69					5																	140250273		2200	4297	6497	PCDHA11	SO:0001819	synonymous_variant	0			-	HGNC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1585C>T	5.37:g.140250273C>T		Somatic	0	89	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	95	32.87	B2RN58|O75279	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L529	ENST00000398640.2	37	c.1585	CCDS47284.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	protein_coding	OTTHUMT00000372885.2	C	NM_018902	-		140250273	1	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	SNP	0.990	T	T	140250273	C	T	140250273	2	4	196	1	0	0	0	0	0	0	0	1	11523	796	28	2		2	PCDHA11	5	140250273	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	140250273	40664987	773	14045	265	2									
PCDHA11	56138	genome.wustl.edu	37	chr5	140250308	140250308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcgcgcgcgatgcgggCgtgccgcctctgagcagcaa	17	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140250308C>T	ENST00000398640.2	+	1	1620	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	540	Cadherin 5. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGATGCGGGCGTGCCGCCTC	0.682																																																	0								ENSG00000249158						71	79	76					5																	140250308		2202	4298	6500	PCDHA11	SO:0001819	synonymous_variant	0			-	HGNC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1620C>T	5.37:g.140250308C>T		Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	84	30.00	B2RN58|O75279	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G540	ENST00000398640.2	37	c.1620	CCDS47284.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	protein_coding	OTTHUMT00000372885.2	C	NM_018902	-		140250308	1	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	SNP	0.146	T	T	140250308	C	T	140250308	2	4	196	1	0	0	0	0	0	0	0	1	11523	755	27	1		1	PCDHA11	5	140250308	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	35	140250308	40664952	774	14046											
PCDHA13	56136	genome.wustl.edu	37	chr5	140262754	140262754	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccataaatccgaacaatggaGaaattaggacaaaaggcaaa	8	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140262754G>A	ENST00000289272.2	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E301K|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	301	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)			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)			GAACAATGGAGAAATTAGGAC	0.378																																					Melanoma(147;1739 1852 5500 27947 37288)												0								ENSG00000239389						58	65	63					5																	140262754		2203	4300	6503	PCDHA13	SO:0001583	missense	0			-	HGNC	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.901G>A	5.37:g.140262754G>A	ENSP00000289272:p.Glu301Lys	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	O75277	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E301K	ENST00000289272.2	37	c.901	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836941	0.71373	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53206	0.63;0.63	5.58	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54240	0.1846	M	0.62723	1.935	0.29180	N	0.876598	P;P;P	0.39601	0.589;0.589;0.68	B;P;P	0.47470	0.381;0.532;0.548	T	0.54050	-0.8351	9	0.52906	T	0.07	.	10.9095	0.47099	0.0727:0.1292:0.7981:0.0	.	301;301;301	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	301	ENSP00000386821:E301K;ENSP00000289272:E301K	ENSP00000289272:E301K	E	+	1	0	PCDHA13	140242938	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.266000	0.51569	2.621000	0.88768	0.561000	0.74099	GAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	G	NM_018904	-		140262754	1	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140262754	G	A	140262754	3	1	196	1	0	0	0	0	1	0	0	0	11525	943	33	2	903	2	PCDHA13	5	140262754	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	12446	140262754	40652506	775	14047											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140348419	140348419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtttccaaaatcctccctGacactcagaggcatgttaag	9	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140348419G>A	ENST00000289269.5	+	1	2600	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	690	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(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTCCCTGACACTCAGAG	0.438																																					Melanoma(190;638 2083 3390 11909 52360)												0								ENSG00000243232						76	72	73					5																	140348419		2203	4300	6503	PCDHAC2	SO:0001583	missense	0			-	HGNC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2068G>A	5.37:g.140348419G>A	ENSP00000289269:p.Asp690Asn	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	17.74	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D690N	ENST00000289269.5	37	c.2068	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263250	0.39995	.	.	ENSG00000243232	ENST00000289269	T	0.51574	0.7	5.91	5.91	0.95273	Cadherin (1);	0.000000	0.44285	D	0.000476	T	0.57140	0.2033	M	0.87547	2.89	0.52501	D	0.999955	B;B	0.31655	0.334;0.128	B;B	0.34346	0.18;0.03	T	0.61093	-0.7132	10	0.56958	D	0.05	.	14.4427	0.67327	0.07:0.0:0.93:0.0	.	690;690	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	N	690	ENSP00000289269:D690N	ENSP00000289269:D690N	D	+	1	0	PCDHAC2	140328603	1.000000	0.71417	0.982000	0.44146	0.827000	0.46813	5.358000	0.66064	2.794000	0.96219	0.655000	0.94253	GAC	-	pfscan_Cadherin		0.438	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	protein_coding	OTTHUMT00000251802.2	G	NM_018899	-		140348419	1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	SNP	0.999	A	A	140348419	G	A	140348419	3	1	196	1	0	0	0	0	1	0	0	0	11535	1290	45	2	2070	2	PCDHAC2	5	140348419	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	85665	140348419	40566841	776	14048											
PCDHB5	26167	genome.wustl.edu	37	chr5	140516693	140516693	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaacgacaactcgcccttCgtgctgtatccgctgcagaa	9	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140516693C>T	ENST00000231134.5	+	1	1894	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	559	Cadherin 5. {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(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTATC	0.716																																																	0								ENSG00000113209						27	32	30					5																	140516693		2199	4295	6494	PCDHB5	SO:0001819	synonymous_variant	0			-	HGNC	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1677C>T	5.37:g.140516693C>T		Somatic	0	75	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	108	16.15	Q549F4|Q9UFU9	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F559	ENST00000231134.5	37	c.1677	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	C	1.468	-0.560605	0.03939	.	.	ENSG00000113209	ENST00000537936	.	.	.	4.42	2.51	0.30379	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.22701	N	0.998837	.	.	.	.	.	.	T	0.36114	-0.9761	5	0.62326	D	0.03	.	9.8594	0.41105	0.0:0.5253:0.3906:0.0841	.	.	.	.	L	343	.	ENSP00000446220:S343L	S	+	2	0	PCDHB5	140496877	0.000000	0.05858	1.000000	0.80357	0.484000	0.33280	-1.969000	0.01506	0.955000	0.37878	0.194000	0.17425	TCG	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	protein_coding	OTTHUMT00000251811.1	C	NM_015669	-		140516693	1	no_errors	ENST00000231134	ensembl	human	known	74_37	silent	SNP	0.353	T	T	140516693	C	T	140516693	2	4	196	1	0	0	0	0	0	0	0	1	11547	883	31	1		1	PCDHB5	5	140516693	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	168274	140516693	40398567	777	14049											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531767	140531767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggtggtgcttgtcaaGgacaatggcgagcctccgcg	16	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140531767G>A	ENST00000231136.1	+	1	1929	c.1929G>A	c.(1927-1929)aaG>aaA	p.K643K	PCDHB6_ENST00000543635.1_Silent_p.K507K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	643	Cadherin 6. {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)			TGCTTGTCAAGGACAATGGCG	0.697																																																	0								ENSG00000113211						25	28	27					5																	140531767		2120	4170	6290	PCDHB6	SO:0001819	synonymous_variant	0			-	HGNC	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.1929G>A	5.37:g.140531767G>A		Somatic	0	42	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	61	27.06	B2R8R9	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K643	ENST00000231136.1	37	c.1929	CCDS4248.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	G	NM_018939	-		140531767	1	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	SNP	0.281	A	A	140531767	G	A	140531767	2	1	196	1	0	0	0	0	0	0	0	1	11548	991	35	2		2	PCDHB6	5	140531767	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	15074	140531767	40383493	778	14050											
PCDHB7	56129	genome.wustl.edu	37	chr5	140554453	140554453	+	Silent	SNP	C	C	T													ctcccggaggcggccccggaCcaggccaactcgctcaccgt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140554453C>T	ENST00000231137.3	+	1	2211	c.2037C>T	c.(2035-2037)gaC>gaT	p.D679D	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	679					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGACCAGGCCAACT	0.697																																																	0								ENSG00000113212						53	85	74					5																	140554453		2195	4293	6488	PCDHB7	SO:0001819	synonymous_variant	0			-	HGNC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2037C>T	5.37:g.140554453C>T		Somatic	0	82	0		0.52429534266604	33	15.38	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	119	21.19	A1L3Y8	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D679	ENST00000231137.3	37	c.2037	CCDS4249.1	5																																																																																			-	NULL		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	protein_coding	OTTHUMT00000251803.2	C	NM_018940	-		140554453	1	no_errors	ENST00000231137	ensembl	human	known	74_37	silent	SNP	0.005	T	T	140554453	C	T	140554453	2	4	196	1	0	0	0	0	0	0	0	1	11549	506	18	2		2	PCDHB7	5	140554453	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	22686	140554453	40360807	779	14051	266	2									
PCDHB7	56129	genome.wustl.edu	37	chr5	140554454	140554454	+	Nonsense_Mutation	SNP	C	C	T													tcccggaggcggccccggacCaggccaactcgctcaccgtc					rs143161042	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140554454C>T	ENST00000231137.3	+	1	2212	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	680					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCCGGACCAGGCCAACTC	0.701													C|||	7	0.00139776	0.0053	0	5008	,	,		21601	0		0	False		,,,				2504	0																0								ENSG00000113212	C	stop/GLN	6,4384		0,6,2189	53	86	75		2038	2.8	0	5	dbSNP_134	75	0,8584		0,0,4292	no	stop-gained	PCDHB7	NM_018940.2		0,6,6481	TT,TC,CC		0.0,0.1367,0.0462		680/794	140554454	6,12968	2195	4292	6487	PCDHB7	SO:0001587	stop_gained	0			-	HGNC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2038C>T	5.37:g.140554454C>T	ENSP00000231137:p.Gln680*	Somatic	0	82	0		0.52429534266604	33	15.38	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	120	21.05	A1L3Y8	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q680*	ENST00000231137.3	37	c.2038	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.680960	0.96774	0.001367	0.0	ENSG00000113212	ENST00000231137	.	.	.	3.77	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.7132	0.23288	0.0:0.7175:0.1821:0.1004	.	.	.	.	X	680	.	ENSP00000231137:Q680X	Q	+	1	0	PCDHB7	140534638	0.047000	0.20315	0.010000	0.14722	0.213000	0.24496	0.423000	0.21313	1.808000	0.52836	0.449000	0.29647	CAG	-	NULL		0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	protein_coding	OTTHUMT00000251803.2	C	NM_018940	rs143161042		140554454	1	no_errors	ENST00000231137	ensembl	human	known	74_37	nonsense	SNP	0.014	T	T	140554454	C	T	140554454	4	4	196	1	0	0	0	0	0	1	0	0	11549	595	21	2	2040	2	PCDHB7	5	140554454	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	140554454	40360806	780	14052	266	2									
PCDHB8	56128	genome.wustl.edu	37	chr5	140558099	140558099	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagaatgctgaagacttaGatataggccaaaacaatatt	8	5	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140558099G>A	ENST00000239444.2	+	1	729	c.484G>A	c.(484-486)Gat>Aat	p.D162N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	162	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)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAGACTTAGATATAGGCCA	0.458																																																	0								ENSG00000120322						74	114	100					5																	140558099		2203	4300	6503	PCDHB8	SO:0001583	missense	0			-	HGNC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.484G>A	5.37:g.140558099G>A	ENSP00000239444:p.Asp162Asn	Somatic	0	192	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	224	21.40	B9EGV1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D162N	ENST00000239444.2	37	c.484	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	g	15.27	2.782428	0.49891	.	.	ENSG00000120322	ENST00000239444	T	0.74002	-0.8	4.25	3.33	0.38152	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92685	0.7675	H	0.99959	5.06	0.37638	D	0.921924	D	0.89917	1.0	D	0.97110	1.0	D	0.95906	0.8919	9	0.87932	D	0	.	12.9599	0.58451	0.0:0.0:0.8376:0.1624	.	162	Q9UN66	PCDB8_HUMAN	N	162	ENSP00000239444:D162N	ENSP00000239444:D162N	D	+	1	0	PCDHB8	140538283	1.000000	0.71417	0.509000	0.27700	0.118000	0.20060	9.675000	0.98638	1.911000	0.55334	0.585000	0.79938	GAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	protein_coding	OTTHUMT00000251816.2	G	NM_019120	-		140558099	1	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	SNP	0.998	A	A	140558099	G	A	140558099	3	1	196	1	0	0	0	0	1	0	0	0	11550	942	33	2	486	2	PCDHB8	5	140558099	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3645	140558099	40357161	781	14053											
PCDHB8	56128	genome.wustl.edu	37	chr5	140558546	140558546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagaaacaacttgatttcGaaaaatttcagtcctatgaa	5	6	1	3	rs148140727		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140558546G>A	ENST00000239444.2	+	1	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	311	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.E311K(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000120322						125	185	164					5																	140558546		2203	4300	6503	PCDHB8	SO:0001583	missense	0			-	HGNC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.931G>A	5.37:g.140558546G>A	ENSP00000239444:p.Glu311Lys	Somatic	1	107	0.93		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	113	12.40	B9EGV1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E311K	ENST00000239444.2	37	c.931	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054051	0.55218	.	.	ENSG00000120322	ENST00000239444	T	0.72394	-0.65	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88980	0.6585	H	0.96048	3.76	0.45747	D	0.998641	D	0.89917	1.0	D	0.97110	1.0	D	0.92966	0.6393	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	311	Q9UN66	PCDB8_HUMAN	K	311	ENSP00000239444:E311K	ENSP00000239444:E311K	E	+	1	0	PCDHB8	140538730	1.000000	0.71417	0.813000	0.32504	0.035000	0.12851	6.377000	0.73145	1.911000	0.55334	0.585000	0.79938	GAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	protein_coding	OTTHUMT00000251816.2	G	NM_019120	rs148140727		140558546	1	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140558546	G	A	140558546	3	1	196	1	0	0	0	0	1	0	0	0	11550	1059	37	1	933	1	PCDHB8	5	140558546	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	447	140558546	40356714	782	14054											
PCDHB11	56125	genome.wustl.edu	37	chr5	140580724	140580724	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacctcctacaccctgttCgtccgcgagaacaacagccc	6	18	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140580724C>T	ENST00000354757.3	+	1	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PCDHB11_ENST00000536699.1_Silent_p.F94F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	459	Cadherin 5. {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(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)			ACACCCTGTTCGTCCGCGAGA	0.587																																																	0								ENSG00000197479						132	123	126					5																	140580724		2203	4296	6499	PCDHB11	SO:0001819	synonymous_variant	0			-	HGNC	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.1377C>T	5.37:g.140580724C>T		Somatic	0	174	0		0.52429534266604	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	190	16.30	B4DSF7|Q2M223	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F459	ENST00000354757.3	37	c.1377	CCDS4253.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.587	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	C	NM_018931	-		140580724	1	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	SNP	0.000	T	T	140580724	C	T	140580724	2	4	196	1	0	0	0	0	0	0	0	1	11538	883	31	1		1	PCDHB11	5	140580724	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	22178	140580724	40334536	783	14055											
PCDHB12	56124	genome.wustl.edu	37	chr5	140590363	140590363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaggtgcgcaccgccagGctgctgagcgagcgcgacgc	18	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140590363G>A	ENST00000239450.2	+	1	2073	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	PCDHB12_ENST00000541609.1_Silent_p.R291R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	628	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(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)			GCACCGCCAGGCTGCTGAGCG	0.701																																																	0								ENSG00000120328						7	10	9					5																	140590363		1606	3264	4870	PCDHB12	SO:0001819	synonymous_variant	0			-	HGNC	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.1884G>A	5.37:g.140590363G>A		Somatic	0	54	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	64	15.79	B4DDU1	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R628	ENST00000239450.2	37	c.1884	CCDS4254.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	protein_coding	OTTHUMT00000251815.2	G	NM_018932	-		140590363	1	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	SNP	0.082	A	A	140590363	G	A	140590363	2	1	196	1	0	0	0	0	0	0	0	1	11539	1194	42	2		2	PCDHB12	5	140590363	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9639	140590363	40324897	784	14056											
PCDHB15	56121	genome.wustl.edu	37	chr5	140626575	140626575	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggcagtgtcagcgccacaGacagagactcgggcaccaac	12	14	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140626575G>A	ENST00000231173.3	+	1	1429	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	477	Cadherin 5. {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(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.647																																																	0								ENSG00000113248						66	76	72					5																	140626575		2203	4289	6492	PCDHB15	SO:0001583	missense	0			-	HGNC	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1429G>A	5.37:g.140626575G>A	ENSP00000231173:p.Asp477Asn	Somatic	0	116	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	134	27.17	Q8IUX5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D477N	ENST00000231173.3	37	c.1429	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844536	0.91197	.	.	ENSG00000113248	ENST00000231173	T	0.74526	-0.85	4.52	4.52	0.55395	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92786	0.7706	H	0.99650	4.68	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	D	0.96377	0.9278	9	0.87932	D	0	.	17.282	0.87131	0.0:0.0:1.0:0.0	.	477	Q9Y5E8	PCDBF_HUMAN	N	477	ENSP00000231173:D477N	ENSP00000231173:D477N	D	+	1	0	PCDHB15	140606759	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	6.638000	0.74309	2.251000	0.74343	0.485000	0.47835	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.647	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	protein_coding	OTTHUMT00000251804.2	G	NM_018935	-		140626575	1	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	SNP	0.999	A	A	140626575	G	A	140626575	3	1	196	1	0	0	0	0	1	0	0	0	11542	942	33	2	1431	2	PCDHB15	5	140626575	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	36212	140626575	40288685	785	14057											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140710482	140710482	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggatgccgcttttcgctctGaatcctagaagtggcagctt	11	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140710482G>A	ENST00000517417.1	+	1	231	c.231G>A	c.(229-231)ctG>ctA	p.L77L	PCDHGA1_ENST00000378105.3_Silent_p.L77L|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	77	Cadherin 1. {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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGCTCTGAATCCTAGAA	0.577																																																	0								ENSG00000204956						118	126	123					5																	140710482		2203	4300	6503	PCDHGA1	SO:0001819	synonymous_variant	0			-	HGNC	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.231G>A	5.37:g.140710482G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	Q2M273|Q9Y5D6	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L77	ENST00000517417.1	37	c.231	CCDS54922.1	5																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.577	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	G	NM_018912	-		140710482	1	no_errors	ENST00000517417	ensembl	human	known	74_37	silent	SNP	0.977	A	A	140710482	G	A	140710482	2	1	196	1	0	0	0	0	0	0	0	1	11552	1277	45	2		2	PCDHGA1	5	140710482	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	83907	140710482	40204778	786	14058											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140719689	140719689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacgcattcaccacctGttcactccccgaggatcttc	7	16	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140719689G>T	ENST00000394576.2	+	1	1151	c.1151G>T	c.(1150-1152)tGt>tTt	p.C384F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	384	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(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)			TTCACCACCTGTTCACTCCCC	0.438																																																	0								ENSG00000081853						80	82	81					5																	140719689		2203	4300	6503	PCDHGA2	SO:0001583	missense	0			-	HGNC	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.1151G>T	5.37:g.140719689G>T	ENSP00000378077:p.Cys384Phe	Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	76	17.39	Q52LL6|Q9Y5D5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C384F	ENST00000394576.2	37	c.1151	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	10.87	1.472968	0.26423	.	.	ENSG00000081853	ENST00000394576	T	0.48522	0.81	5.03	4.09	0.47781	Cadherin (4);Cadherin-like (1);	0.000000	0.45126	U	0.000390	T	0.71099	0.3300	M	0.86573	2.825	0.28458	N	0.91604	P;D	0.76494	0.906;0.999	P;D	0.79784	0.582;0.993	T	0.68078	-0.5504	10	0.87932	D	0	.	14.1736	0.65527	0.0:0.0:0.8496:0.1504	.	384;384	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	F	384	ENSP00000378077:C384F	ENSP00000378077:C384F	C	+	2	0	PCDHGA2	140699873	1.000000	0.71417	0.997000	0.53966	0.032000	0.12392	4.583000	0.60964	2.503000	0.84419	0.561000	0.74099	TGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	G	NM_018915	-		140719689	1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	SNP	0.896	T	T	140719689	G	T	140719689	3	4	196	1	0	0	0	0	1	0	0	0	11556	1377	48	3	1153	3	PCDHGA2	5	140719689	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9207	140719689	40195571	787	14059											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140719794	140719794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagttttccttttacaAcatcactctaaccgctaaag	5	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140719794A>G	ENST00000394576.2	+	1	1256	c.1256A>G	c.(1255-1257)aAc>aGc	p.N419S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	419	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(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)			TCCTTTTACAACATCACTCTA	0.493																																																	0								ENSG00000081853						74	74	74					5																	140719794		2203	4300	6503	PCDHGA2	SO:0001583	missense	0			-	HGNC	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.1256A>G	5.37:g.140719794A>G	ENSP00000378077:p.Asn419Ser	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	Q52LL6|Q9Y5D5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N419S	ENST00000394576.2	37	c.1256	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	15.86	2.959220	0.53400	.	.	ENSG00000081853	ENST00000394576	T	0.01613	4.73	5.02	5.02	0.67125	Cadherin (5);Cadherin-like (1);	0.000000	0.44902	U	0.000404	T	0.09335	0.0230	M	0.73217	2.22	0.29605	N	0.847389	D;D	0.76494	0.999;0.997	D;D	0.72982	0.95;0.979	T	0.00487	-1.1710	10	0.66056	D	0.02	.	14.7064	0.69194	1.0:0.0:0.0:0.0	.	419;419	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	419	ENSP00000378077:N419S	ENSP00000378077:N419S	N	+	2	0	PCDHGA2	140699978	0.069000	0.21087	0.997000	0.53966	0.634000	0.38068	2.463000	0.45058	2.014000	0.59158	0.459000	0.35465	AAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.493	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	A	NM_018915	-		140719794	1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140719794	A	G	140719794	3	3	196	1	0	0	0	0	1	0	0	0	11556	43	2	5	1258	5	PCDHGA2	5	140719794	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	105	140719794	40195466	788	14060											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140735371	140735371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctggaacgcgctctagatCgcgaggaagaggcggttcac	15	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140735371C>T	ENST00000571252.1	+	1	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	202	Cadherin 2. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTAGATCGCGAGGAAGA	0.557																																																	0								ENSG00000262576						25	28	27					5																	140735371		2167	4282	6449	PCDHGA4	SO:0001583	missense	0			-	HGNC	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.604C>T	5.37:g.140735371C>T	ENSP00000458570:p.Arg202Cys	Somatic	0	32	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	48	15.79	Q9Y5D3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R202C	ENST00000571252.1	37	c.604	CCDS58979.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.557	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	C	NM_018917	-		140735371	1	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140735371	C	T	140735371	3	4	196	1	0	0	0	0	1	0	0	0	11558	884	31	1	606	1	PCDHGA4	5	140735371	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	15577	140735371	40179889	789	14061											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140743929	140743929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctaggggctggggctgcgGagagctgctgctgcccttca	16	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140743929G>A	ENST00000518069.1	+	1	32	c.32G>A	c.(31-33)gGa>gAa	p.G11E	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	11					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)			TGGGGCTGCGGAGAGCTGCTG	0.582																																																	0								ENSG00000253485						35	45	42					5																	140743929		2092	4240	6332	PCDHGA5	SO:0001583	missense	0			-	HGNC	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.32G>A	5.37:g.140743929G>A	ENSP00000429834:p.Gly11Glu	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	73	23.96	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G11E	ENST00000518069.1	37	c.32	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	10.65	1.409405	0.25378	.	.	ENSG00000253485	ENST00000518069	T	0.44881	0.91	5.42	-0.168	0.13343	.	.	.	.	.	T	0.15998	0.0385	N	0.11064	0.09	0.09310	N	1	B;B	0.27068	0.009;0.167	B;B	0.29598	0.038;0.104	T	0.26985	-1.0087	9	0.02654	T	1	.	1.931	0.03327	0.3859:0.1174:0.3671:0.1295	.	11;11	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	E	11	ENSP00000429834:G11E	ENSP00000429834:G11E	G	+	2	0	PCDHGA5	140724113	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.567000	0.05916	0.021000	0.15133	0.563000	0.77884	GGA	-	NULL		0.582	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	protein_coding	OTTHUMT00000374742.1	G	NM_018918	-		140743929	1	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140743929	G	A	140743929	3	1	196	1	0	0	0	0	1	0	0	0	11559	1174	41	2	34	2	PCDHGA5	5	140743929	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8558	140743929	40171331	790	14062											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750451	140750451	+	Missense_Mutation	SNP	G	G	A													cgcaagatcctgatgtaggtGtcaattcgctgcagcagtac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140750451G>A	ENST00000576222.1	+	1	621	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	164	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTAGGTGTCAATTCGCT	0.502																																																	0								ENSG00000262209						213	210	211					5																	140750451		2041	4185	6226	PCDHGB3	SO:0001583	missense	0			-	HGNC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.490G>A	5.37:g.140750451G>A	ENSP00000461862:p.Val164Ile	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	52	33.33	A7E229|Q9Y5C7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V164I	ENST00000576222.1	37	c.490	CCDS58980.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	protein_coding	OTTHUMT00000437094.1	G	NM_018924	-		140750451	1	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140750451	G	A	140750451	3	1	196	1	0	0	0	0	1	0	0	0	11566	1377	48	2	492	2	PCDHGB3	5	140750451	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6522	140750451	40164809	791	14063	267	2									
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750452	140750452	+	Missense_Mutation	SNP	T	T	A													gcaagatcctgatgtaggtgTcaattcgctgcagcagtact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140750452T>A	ENST00000576222.1	+	1	622	c.491T>A	c.(490-492)gTc>gAc	p.V164D	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	164	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTAGGTGTCAATTCGCTG	0.502																																																	0								ENSG00000262209						213	210	211					5																	140750452		2039	4185	6224	PCDHGB3	SO:0001583	missense	0			-	HGNC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.491T>A	5.37:g.140750452T>A	ENSP00000461862:p.Val164Asp	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	51	32.89	A7E229|Q9Y5C7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V164D	ENST00000576222.1	37	c.491	CCDS58980.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	protein_coding	OTTHUMT00000437094.1	T	NM_018924	-		140750452	1	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140750452	T	A	140750452	3	1	196	1	0	0	0	0	1	0	0	0	11566	1667	58	5	493	5	PCDHGB3	5	140750452	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	140750452	40164808	792	14064	267	2									
PCDHGB4	8641	genome.wustl.edu	37	chr5	140767511	140767511	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccagtgctctttctcttCctgctgtctttgttctgccc	7	15	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140767511C>T	ENST00000519479.1	+	1	60	c.60C>T	c.(58-60)ttC>ttT	p.F20F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	20					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCTCTTCCTGCTGTCTT	0.647											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000253953						6	7	7					5																	140767511		1709	3864	5573	PCDHGB4	SO:0001819	synonymous_variant	0			-	HGNC	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.60C>T	5.37:g.140767511C>T		Somatic	0	33	0	1658	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	O15099|Q2M267|Q9UN64	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F20	ENST00000519479.1	37	c.60	CCDS54928.1	5																																																																																			-	NULL		0.647	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	protein_coding	OTTHUMT00000374745.1	C	NM_003736	-		140767511	1	no_errors	ENST00000519479	ensembl	human	known	74_37	silent	SNP	0.033	T	T	140767511	C	T	140767511	2	4	196	1	0	0	0	0	0	0	0	1	11567	854	30	2		2	PCDHGB4	5	140767511	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	17059	140767511	40147749	793	14065											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140773133	140773133	+	Silent	SNP	C	C	T													ccgatttaccgagtgaaagtCcttgagaacatgcccccagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140773133C>T	ENST00000398604.2	+	1	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	251	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGAAAGTCCTTGAGAACA	0.527																																																	0								ENSG00000253767						79	84	82					5																	140773133		1998	4174	6172	PCDHGA8	SO:0001819	synonymous_variant	0			-	HGNC	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.753C>T	5.37:g.140773133C>T		Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	A7MCZ4|O15039	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V251	ENST00000398604.2	37	c.753	CCDS47291.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.527	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	protein_coding	OTTHUMT00000376972.1	C	NM_032088	-		140773133	1	no_errors	ENST00000398604	ensembl	human	known	74_37	silent	SNP	0.024	T	T	140773133	C	T	140773133	2	4	196	1	0	0	0	0	0	0	0	1	11562	842	30	2		2	PCDHGA8	5	140773133	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5622	140773133	40142127	794	14066	268	2									
PCDHGA8	9708	genome.wustl.edu	37	chr5	140773134	140773134	+	Missense_Mutation	SNP	C	C	T													cgatttaccgagtgaaagtcCttgagaacatgcccccaggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140773134C>T	ENST00000398604.2	+	1	754	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	252	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAAAGTCCTTGAGAACAT	0.522																																																	0								ENSG00000253767						78	84	82					5																	140773134		1997	4172	6169	PCDHGA8	SO:0001583	missense	0			-	HGNC	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.754C>T	5.37:g.140773134C>T	ENSP00000381605:p.Leu252Phe	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A7MCZ4|O15039	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L252F	ENST00000398604.2	37	c.754	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	3.871	-0.027964	0.07589	.	.	ENSG00000253767	ENST00000398604	T	0.52057	0.68	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.335242	0.16209	U	0.224573	T	0.37732	0.1014	L	0.27944	0.81	0.09310	N	1	B;B	0.13594	0.008;0.007	B;B	0.15484	0.013;0.012	T	0.23547	-1.0185	10	0.45353	T	0.12	.	14.5397	0.67984	0.1471:0.8529:0.0:0.0	.	252;252	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	252	ENSP00000381605:L252F	ENSP00000381605:L252F	L	+	1	0	PCDHGA8	140753318	0.000000	0.05858	0.945000	0.38365	0.102000	0.19082	-0.510000	0.06328	2.552000	0.86080	0.655000	0.94253	CTT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.522	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	protein_coding	OTTHUMT00000376972.1	C	NM_032088	-		140773134	1	no_errors	ENST00000398604	ensembl	human	known	74_37	missense	SNP	0.033	T	T	140773134	C	T	140773134	3	4	196	1	0	0	0	0	1	0	0	0	11562	681	24	2	756	2	PCDHGA8	5	140773134	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	140773134	40142126	795	14067	268	2									
PCDHGA10	56106	genome.wustl.edu	37	chr5	140794683	140794683	+	Silent	SNP	A	A	G													gcgctcaagcaaagcctcgtAgtggccgtccaggaccacgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140794683A>G	ENST00000398610.2	+	1	1941	c.1941A>G	c.(1939-1941)gtA>gtG	p.V647V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	647	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)			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)			AAAGCCTCGTAGTGGCCGTCC	0.711																																																	0								ENSG00000253846						49	59	55					5																	140794683		2201	4296	6497	PCDHGA10	SO:0001819	synonymous_variant	0			-	HGNC		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.1941A>G	5.37:g.140794683A>G		Somatic	0	66	0		0.52429534266604	2	81.82	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	67	28.72	Q9Y5E0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V647	ENST00000398610.2	37	c.1941	CCDS47292.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.711	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	protein_coding	OTTHUMT00000374747.1	A	NM_018913	-		140794683	1	no_errors	ENST00000398610	ensembl	human	known	74_37	silent	SNP	1.000	G	G	140794683	A	G	140794683	2	3	196	1	0	0	0	0	0	0	0	1	11553	407	15	5		5	PCDHGA10	5	140794683	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	21549	140794683	40120577	796	14068	269	2									
PCDHGA10	56106	genome.wustl.edu	37	chr5	140794690	140794690	+	Missense_Mutation	SNP	G	G	A													agcaaagcctcgtagtggccGtccaggaccacggccagccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140794690G>A	ENST00000398610.2	+	1	1948	c.1948G>A	c.(1948-1950)Gtc>Atc	p.V650I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	650	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)			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)			CGTAGTGGCCGTCCAGGACCA	0.706																																																	0								ENSG00000253846						44	54	51					5																	140794690		2202	4296	6498	PCDHGA10	SO:0001583	missense	0			-	HGNC		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.1948G>A	5.37:g.140794690G>A	ENSP00000381611:p.Val650Ile	Somatic	0	62	0		0.52429534266604	2	80	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	69	28.12	Q9Y5E0	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V650I	ENST00000398610.2	37	c.1948	CCDS47292.1	5	.	.	.	.	.	.	.	.	.	.	g	19.86	3.905066	0.72868	.	.	ENSG00000253846	ENST00000398610	T	0.61510	0.1	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72095	0.3418	M	0.71920	2.185	0.30890	N	0.730404	P;D	0.54964	0.955;0.969	P;P	0.55391	0.538;0.775	T	0.74315	-0.3705	9	0.62326	D	0.03	.	18.8436	0.92194	0.0:0.0:1.0:0.0	.	650;650	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	I	650	ENSP00000381611:V650I	ENSP00000381611:V650I	V	+	1	0	PCDHGA10	140774874	0.998000	0.40836	0.966000	0.40874	0.898000	0.52572	2.593000	0.46180	2.548000	0.85928	0.556000	0.70494	GTC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.706	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	protein_coding	OTTHUMT00000374747.1	G	NM_018913	-		140794690	1	no_errors	ENST00000398610	ensembl	human	known	74_37	missense	SNP	0.999	A	A	140794690	G	A	140794690	3	1	196	1	0	0	0	0	1	0	0	0	11553	1145	40	1	1950	1	PCDHGA10	5	140794690	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7	140794690	40120570	797	14069	269	2									
SH3RF2	153769	genome.wustl.edu	37	chr5	145439745	145439745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcatctgccccaccatcCatcctggtgaaaccagaaaa	6	17	1	2	rs142977207		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:145439745C>T	ENST00000511217.1	+	8	1924	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.S624S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	624					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCACCATCCATCCTGGTGA	0.522																																																	0								ENSG00000156463	C		1,4405	2.1+/-5.4	0,1,2202	66	71	69		1872	-11.5	0	5	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	SH3RF2	NM_152550.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		624/730	145439745	1,13005	2203	4300	6503	SH3RF2	SO:0001819	synonymous_variant	0			-	HGNC	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1872C>T	5.37:g.145439745C>T		Somatic	0	112	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	120	30.64	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP							pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.S624	ENST00000511217.1	37	c.1872	CCDS4280.1	5																																																																																			-	NULL		0.522	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	protein_coding	OTTHUMT00000372804.1	C	NM_152550	rs142977207		145439745	1	no_errors	ENST00000359120	ensembl	human	known	74_37	silent	SNP	0.032	T	T	145439745	C	T	145439745	2	4	196	1	0	0	0	0	0	0	0	1	14267	581	21	2		2	SH3RF2	5	145439745	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4645055	145439745	35475515	798	14070											
JAKMIP2	9832	genome.wustl.edu	37	chr5	146971250	146971250	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatccatgttttcggttactCtgcaaaacagaggaaaaaaa	7	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:146971250C>T	ENST00000265272.5	-	21	2880		c.e21-1		JAKMIP2_ENST00000333010.6_Splice_Site|JAKMIP2_ENST00000507386.1_Splice_Site	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2							Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTTACTCTGCAAAACAG	0.299																																																	0								ENSG00000176049						110	100	103					5																	146971250		2203	4299	6502	JAKMIP2	SO:0001630	splice_region_variant	0			-	HGNC	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2413-1G>A	5.37:g.146971250C>T		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Splice_Site	SNP							-	e20-1	ENST00000265272.5	37	c.2413-1	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230395	0.58777	.	.	ENSG00000176049	ENST00000265272	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3689	0.94477	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAKMIP2	146951443	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.359000	0.66074	2.637000	0.89404	0.563000	0.77884	.	-	-		0.299	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	protein_coding	OTTHUMT00000251941.1	C	NM_014790	-	Intron	146971250	-1	no_errors	ENST00000265272	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	146971250	C	T	146971250	5	4	196	1	0	0	0	0	0	0	1	0	7943	927	32	2	24	2	JAKMIP2	5	146971250	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1531505	146971250	33944010	799	14071											
SPINK7	84651	genome.wustl.edu	37	chr5	147692067	147692067	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagatcactgggggtctCcttctgctctgtacagtggt	12	9	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:147692067C>T	ENST00000274565.4	+	1	82	c.21C>T	c.(19-21)ctC>ctT	p.L7L	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_5'Flank	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	7						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTCTCCTTCTGCTCT	0.458																																																	0								ENSG00000145879						175	151	159					5																	147692067		2203	4300	6503	SPINK7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"Serine peptidase inhibitors, Kazal type"	24643	protein-coding gene	gene with protein product	"esophagus cancer related gene 2"					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.21C>T	5.37:g.147692067C>T		Somatic	0	104	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	59	39.80	Q32LY0	Silent	SNP							pfam_Kazal_dom,smart_Kazal_dom	p.L7	ENST00000274565.4	37	c.21	CCDS4289.1	5																																																																																			-	NULL		0.458	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK7	protein_coding	OTTHUMT00000251944.5	C	NM_032566	-		147692067	1	no_errors	ENST00000274565	ensembl	human	known	74_37	silent	SNP	0.995	T	T	147692067	C	T	147692067	2	4	196	1	0	0	0	0	0	0	0	1	15071	842	30	2		2	SPINK7	5	147692067	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	720817	147692067	33223193	800	14072											
PDE6A	5145	genome.wustl.edu	37	chr5	149247673	149247673	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacctggctctgcacctcCcagggtttggtgatggctga	12	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149247673C>T	ENST00000255266.5	-	18	2303	c.2184G>A	c.(2182-2184)tgG>tgA	p.W728*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	728					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)	TCTGCACCTCCCAGGGTTTGG	0.572																																																	0								ENSG00000132915						147	127	134					5																	149247673		2203	4300	6503	PDE6A	SO:0001587	stop_gained	0			-	HGNC		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.2184G>A	5.37:g.149247673C>T	ENSP00000255266:p.Trp728*	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	Q0P638	Nonsense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.W728*	ENST00000255266.5	37	c.2184	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.644669	0.99227	.	.	ENSG00000132915	ENST00000255266	.	.	.	5.32	5.32	0.75619	.	0.312296	0.33854	N	0.004488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8707	0.86040	0.0:1.0:0.0:0.0	.	.	.	.	X	728	.	ENSP00000255266:W728X	W	-	3	0	PDE6A	149227866	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.084000	0.76866	2.655000	0.90218	0.462000	0.41574	TGG	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	protein_coding	OTTHUMT00000252326.2	C		-		149247673	-1	no_errors	ENST00000255266	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	149247673	C	T	149247673	4	4	196	1	0	0	0	0	0	1	0	0	11647	624	22	2	418	2	PDE6A	5	149247673	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1555606	149247673	31667587	801	14073											
SLC26A2	1836	genome.wustl.edu	37	chr5	149360913	149360913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttccgctttgtagcccCtctctactacataaacaaag	5	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149360913C>T	ENST00000286298.4	+	3	2025	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	586	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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)			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)			TTTGTAGCCCCTCTCTACTAC	0.413																																																	0								ENSG00000155850						76	82	80					5																	149360913		2203	4300	6503	SLC26A2	SO:0001583	missense	0			-	HGNC	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.1757C>T	5.37:g.149360913C>T	ENSP00000286298:p.Pro586Leu	Somatic	0	43	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.P586L	ENST00000286298.4	37	c.1757	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441186	0.83993	.	.	ENSG00000155850	ENST00000286298	D	0.91124	-2.79	6.07	6.07	0.98685	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95816	0.8845	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	586	P50443	S26A2_HUMAN	L	586	ENSP00000286298:P586L	ENSP00000286298:P586L	P	+	2	0	SLC26A2	149341106	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.739000	0.84976	2.884000	0.98904	0.655000	0.94253	CCT	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.413	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	protein_coding	OTTHUMT00000252333.2	C	NM_000112	-		149360913	1	no_errors	ENST00000286298	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149360913	C	T	149360913	3	4	196	1	0	0	0	0	1	0	0	0	14525	681	24	2	1763	2	SLC26A2	5	149360913	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	113240	149360913	31554347	802	14074											
CSF1R	1436	genome.wustl.edu	37	chr5	149460368	149460368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcgctgcctcccaggGggtctccaggctcagtgcag	16	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149460368G>A	ENST00000286301.3	-	3	560	c.269C>T	c.(268-270)cCc>cTc	p.P90L	CSF1R_ENST00000543093.1_Missense_Mutation_p.P90L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	90	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCCTCCCAGGGGGTCTCCAGG	0.617																																																	0								ENSG00000182578						84	61	69					5																	149460368		2203	4300	6503	CSF1R	SO:0001583	missense	0			-	HGNC	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.269C>T	5.37:g.149460368G>A	ENSP00000286301:p.Pro90Leu	Somatic	0	26	0		0.52429534266604	68	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	45	27.42	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P90L	ENST00000286301.3	37	c.269	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482918	0.26598	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.24908	1.83;1.83	5.17	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.767139	0.11686	N	0.539377	T	0.32675	0.0837	L	0.56769	1.78	0.09310	N	1	D;P;P	0.54601	0.967;0.911;0.554	P;P;B	0.48270	0.572;0.494;0.159	T	0.11542	-1.0583	10	0.45353	T	0.12	.	9.8363	0.40971	0.0958:0.0:0.9042:0.0	.	90;90;90	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	L	90	ENSP00000286301:P90L;ENSP00000445282:P90L	ENSP00000286301:P90L	P	-	2	0	CSF1R	149440561	0.082000	0.21442	0.195000	0.23364	0.332000	0.28634	1.400000	0.34577	1.316000	0.45131	0.655000	0.94253	CCC	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	protein_coding	OTTHUMT00000252329.2	G	NM_005211	-		149460368	-1	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	SNP	0.048	A	A	149460368	G	A	149460368	3	1	196	1	0	0	0	0	1	0	0	0	3934	1232	43	2	2729	2	CSF1R	5	149460368	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	99455	149460368	31454892	803	14075											
PDGFRB	5159	genome.wustl.edu	37	chr5	149495421	149495421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccacctggagctcaaGctggggctctggctctggtt	14	13	3	0	rs376730887		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149495421G>A	ENST00000261799.4	-	23	3695	c.3226C>T	c.(3226-3228)Ctt>Ttt	p.L1076F	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1076					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)	TGGAGCTCAAGCTGGGGCTCT	0.627			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0								ENSG00000113721	G	PHE/LEU	0,4404		0,0,2202	29	32	31		3226	3.2	0	5		31	1,8597	1.2+/-3.3	0,1,4298	no	missense	PDGFRB	NM_002609.3	22	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	1076/1107	149495421	1,13001	2202	4299	6501	PDGFRB	SO:0001583	missense	0			-	HGNC	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.3226C>T	5.37:g.149495421G>A	ENSP00000261799:p.Leu1076Phe	Somatic	0	70	0		0.52429534266604	448	51.65	484	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	80	28.57	B5A957|Q8N5L4	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L1076F	ENST00000261799.4	37	c.3226	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523814	0.44866	0.0	1.16E-4	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76060	-0.99	4.04	3.15	0.36227	.	0.510600	0.14544	U	0.313129	T	0.53351	0.1791	N	0.08118	0	0.09310	N	1	B;B	0.29085	0.077;0.232	B;B	0.24269	0.032;0.052	T	0.41305	-0.9516	10	0.32370	T	0.25	.	12.5093	0.55999	0.0:0.1676:0.8324:0.0	.	1076;1076	A8KAM8;P09619	.;PGFRB_HUMAN	F	1076;746	ENSP00000261799:L1076F	ENSP00000261799:L1076F	L	-	1	0	PDGFRB	149475614	0.690000	0.27699	0.026000	0.17262	0.301000	0.27625	2.141000	0.42168	1.022000	0.39626	0.462000	0.41574	CTT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.627	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	protein_coding	OTTHUMT00000252332.1	G	NM_002609	-		149495421	-1	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	SNP	0.191	A	A	149495421	G	A	149495421	3	1	196	1	0	0	0	0	1	0	0	0	11664	971	34	2	98	2	PDGFRB	5	149495421	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	35053	149495421	31419839	804	14076											
TNIP1	10318	genome.wustl.edu	37	chr5	150413231	150413231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggccatggggggaggggGgtagcggatctgggaccagt	21	7	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:150413231G>A	ENST00000389378.2	-	16	2305	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	TNIP1_ENST00000523338.1_Missense_Mutation_p.P573S|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000315050.7_Missense_Mutation_p.P573S|TNIP1_ENST00000521591.1_Missense_Mutation_p.P573S|TNIP1_ENST00000522226.1_Missense_Mutation_p.P573S|TNIP1_ENST00000523200.1_Intron|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.P520S|TNIP1_ENST00000518977.1_Missense_Mutation_p.P573S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	573	Pro-rich.|Required for inhibitory activity of TNF- induced NF-kappa-B activation. {ECO:0000250}.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGAGGGGGGTAGCGGATC	0.662																																																	0								ENSG00000145901						38	43	41					5																	150413231		2202	4299	6501	TNIP1	SO:0001583	missense	0			-	HGNC	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1717C>T	5.37:g.150413231G>A	ENSP00000374029:p.Pro573Ser	Somatic	0	25	0		0.52429534266604	290	25.26	98	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P573S	ENST00000389378.2	37	c.1717	CCDS34280.1	5	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349944	0.41599	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977	T;T;T;T;T;T;T	0.17213	2.29;2.35;2.35;2.32;2.35;2.35;2.32	5.06	4.18	0.49190	.	0.189178	0.46442	N	0.000299	T	0.12944	0.0314	L	0.41824	1.3	0.44024	D	0.996745	B;P;P	0.41450	0.319;0.75;0.513	B;B;B	0.37091	0.187;0.241;0.241	T	0.02115	-1.1211	10	0.48119	T	0.1	-13.7901	8.5075	0.33197	0.1701:0.0:0.8299:0.0	.	573;573;573	B7Z8K2;A4F1W9;Q15025	.;.;TNIP1_HUMAN	S	520;573;573;573;535;573;573;573	ENSP00000429891:P520S;ENSP00000374029:P573S;ENSP00000317891:P573S;ENSP00000428243:P573S;ENSP00000428187:P573S;ENSP00000430760:P573S;ENSP00000430971:P573S	ENSP00000317891:P573S	P	-	1	0	TNIP1	150393424	1.000000	0.71417	0.993000	0.49108	0.705000	0.40729	3.727000	0.54984	2.330000	0.79161	0.557000	0.71058	CCC	-	NULL		0.662	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	protein_coding	OTTHUMT00000374914.1	G	NM_006058	-		150413231	-1	no_errors	ENST00000315050	ensembl	human	known	74_37	missense	SNP	0.996	A	A	150413231	G	A	150413231	3	1	196	1	0	0	0	0	1	0	0	0	16321	1232	43	2	205	2	TNIP1	5	150413231	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	917810	150413231	30502029	805	14077											
G3BP1	10146	genome.wustl.edu	37	chr5	151183530	151183530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcgaccgacgagataatCgccttcggggacctggaggc	15	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:151183530C>T	ENST00000394123.3	+	12	1424	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	G3BP1_ENST00000543466.1_Missense_Mutation_p.R245C|G3BP1_ENST00000356245.3_Missense_Mutation_p.R427C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	427					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ACGAGATAATCGCCTTCGGGG	0.582																																																	0								ENSG00000145907						84	88	87					5																	151183530		2203	4300	6503	G3BP1	SO:0001583	missense	0			-	HGNC	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1279C>T	5.37:g.151183530C>T	ENSP00000377681:p.Arg427Cys	Somatic	0	48	0		0.52429534266604	80	29.82	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	47.54	Q5HYE9	Missense_Mutation	SNP							pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R427C	ENST00000394123.3	37	c.1279	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046934	0.36085	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.76968	-0.96;-1.06;-0.96	5.36	3.28	0.37604	.	0.043814	0.85682	D	0.000000	T	0.73621	0.3610	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	B	0.42386	0.386	T	0.77319	-0.2632	10	0.54805	T	0.06	-1.4343	13.4392	0.61104	0.4251:0.5749:0.0:0.0	.	427	Q13283	G3BP1_HUMAN	C	427;245;427;269	ENSP00000377681:R427C;ENSP00000445035:R245C;ENSP00000348578:R427C	ENSP00000274596:R269C	R	+	1	0	G3BP1	151163723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.424000	0.34848	1.374000	0.46228	0.655000	0.94253	CGC	-	NULL		0.582	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	protein_coding	OTTHUMT00000252431.1	C	NM_005754	-		151183530	1	no_errors	ENST00000356245	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151183530	C	T	151183530	3	4	196	1	0	0	0	0	1	0	0	0	6143	884	31	1	1321	1	G3BP1	5	151183530	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	770299	151183530	29731730	806	14078											
NMUR2	56923	genome.wustl.edu	37	chr5	151784292	151784292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggaggcgaagcacacgGtctcaaagagggccgtcttg	16	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:151784292G>A	ENST00000255262.3	-	1	548	c.383C>T	c.(382-384)aCc>aTc	p.T128I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	128					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)			GAAGCACACGGTCTCAAAGAG	0.617																																																	0								ENSG00000132911						68	73	71					5																	151784292		2203	4300	6503	NMUR2	SO:0001583	missense	0			-	HGNC	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.383C>T	5.37:g.151784292G>A	ENSP00000255262:p.Thr128Ile	Somatic	0	35	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	38	33.33	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.T128I	ENST00000255262.3	37	c.383	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342771	0.61073	.	.	ENSG00000132911	ENST00000255262	T	0.71222	-0.55	5.54	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.142936	0.47852	D	0.000208	T	0.70116	0.3187	L	0.57536	1.79	0.58432	D	0.999999	B	0.22909	0.077	B	0.31812	0.136	T	0.69939	-0.5009	10	0.72032	D	0.01	-23.0478	13.6968	0.62585	0.074:0.0:0.926:0.0	.	128	Q9GZQ4	NMUR2_HUMAN	I	128	ENSP00000255262:T128I	ENSP00000255262:T128I	T	-	2	0	NMUR2	151764485	1.000000	0.71417	0.891000	0.34965	0.897000	0.52465	5.450000	0.66626	1.348000	0.45733	-0.137000	0.14449	ACC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	protein_coding	OTTHUMT00000252439.1	G	NM_020167	-		151784292	-1	no_errors	ENST00000255262	ensembl	human	known	74_37	missense	SNP	0.999	A	A	151784292	G	A	151784292	3	1	196	1	0	0	0	0	1	0	0	0	10509	1261	44	2	880	2	NMUR2	5	151784292	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	600762	151784292	29130968	807	14079											
NMUR2	56923	genome.wustl.edu	37	chr5	151784535	151784535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatacaccacagacacgGggaggaagaagtggctgcgc	14	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:151784535G>A	ENST00000255262.3	-	1	305	c.140C>T	c.(139-141)cCc>cTc	p.P47L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	47					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)			CACAGACACGGGGAGGAAGAA	0.552																																																	0								ENSG00000132911						98	93	95					5																	151784535		2203	4300	6503	NMUR2	SO:0001583	missense	0			-	HGNC	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.140C>T	5.37:g.151784535G>A	ENSP00000255262:p.Pro47Leu	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.P47L	ENST00000255262.3	37	c.140	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509806	0.85282	.	.	ENSG00000132911	ENST00000255262	T	0.32272	1.46	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.61438	0.2347	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66272	-0.5965	10	0.87932	D	0	-30.0162	18.4906	0.90846	0.0:0.0:1.0:0.0	.	47	Q9GZQ4	NMUR2_HUMAN	L	47	ENSP00000255262:P47L	ENSP00000255262:P47L	P	-	2	0	NMUR2	151764728	1.000000	0.71417	0.918000	0.36340	0.743000	0.42351	9.442000	0.97566	2.607000	0.88179	0.655000	0.94253	CCC	-	prints_GPCR_Rhodpsn		0.552	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	protein_coding	OTTHUMT00000252439.1	G	NM_020167	-		151784535	-1	no_errors	ENST00000255262	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151784535	G	A	151784535	3	1	196	1	0	0	0	0	1	0	0	0	10509	1232	43	2	1123	2	NMUR2	5	151784535	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	243	151784535	29130725	808	14080											
MFAP3	4238	genome.wustl.edu	37	chr5	153433060	153433060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaacccagagatgggacgGagtaattcaccaggaggaga	13	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:153433060G>A	ENST00000436816.1	+	3	1095	c.876G>A	c.(874-876)cgG>cgA	p.R292R	MFAP3_ENST00000439768.2_Silent_p.R146R|MFAP3_ENST00000322602.5_Silent_p.R292R	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	292					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGATGGGACGGAGTAATTCAC	0.473																																																	0								ENSG00000037749						92	94	93					5																	153433060		2203	4300	6503	MFAP3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.876G>A	5.37:g.153433060G>A		Somatic	0	42	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	52	21.21	B2RDK0|B4DKA1|Q9NXA7	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R292	ENST00000436816.1	37	c.876	CCDS4324.1	5																																																																																			-	NULL		0.473	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	protein_coding	OTTHUMT00000252457.2	G	NM_005927	-		153433060	1	no_errors	ENST00000322602	ensembl	human	known	74_37	silent	SNP	1.000	A	A	153433060	G	A	153433060	2	1	196	1	0	0	0	0	0	0	0	1	9517	1161	41	2		2	MFAP3	5	153433060	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1648525	153433060	27482200	809	14081											
FAM71B	153745	genome.wustl.edu	37	chr5	156590527	156590527	+	Missense_Mutation	SNP	G	G	A													cccctggagtgctcgtggatGgagaagccgcactagccgtt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:156590527G>A	ENST00000302938.4	-	2	844	c.749C>T	c.(748-750)cCa>cTa	p.P250L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	250	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCGTGGATGGAGAAGCCGC	0.577																																																	0								ENSG00000170613						84	74	77					5																	156590527		2203	4300	6503	FAM71B	SO:0001583	missense	0			-	HGNC		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.749C>T	5.37:g.156590527G>A	ENSP00000305596:p.Pro250Leu	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	28	46.15	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP							pfam_DUF3699	p.P250L	ENST00000302938.4	37	c.749	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	1.287	-0.608740	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.03920	3.76	3.66	-2.74	0.05932	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48445	-0.9035	9	0.16420	T	0.52	8.3223	6.0154	0.19601	0.3902:0.133:0.4768:0.0	.	250	Q8TC56	FA71B_HUMAN	L	250	ENSP00000305596:P250L	ENSP00000305596:P250L	P	-	2	0	FAM71B	156523105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.798000	0.01747	-0.866000	0.04068	-1.238000	0.01547	CCA	-	NULL		0.577	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	protein_coding	OTTHUMT00000252570.2	G	NM_130899	-		156590527	-1	no_errors	ENST00000302938	ensembl	human	known	74_37	missense	SNP	0.000	A	A	156590527	G	A	156590527	3	1	196	1	0	0	0	0	1	0	0	0	5610	1348	47	2	1072	2	FAM71B	5	156590527	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3157467	156590527	24324733	810	14082	270	2									
FAM71B	153745	genome.wustl.edu	37	chr5	156590528	156590528	+	Missense_Mutation	SNP	G	G	A													ccctggagtgctcgtggatgGagaagccgcactagccgttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:156590528G>A	ENST00000302938.4	-	2	843	c.748C>T	c.(748-750)Cca>Tca	p.P250S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	250	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTGGATGGAGAAGCCGCA	0.582																																																	0								ENSG00000170613						84	74	77					5																	156590528		2203	4300	6503	FAM71B	SO:0001583	missense	0			-	HGNC		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.748C>T	5.37:g.156590528G>A	ENSP00000305596:p.Pro250Ser	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP							pfam_DUF3699	p.P250S	ENST00000302938.4	37	c.748	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.955180	0.00470	.	.	ENSG00000170613	ENST00000302938	T	0.03745	3.82	3.66	-7.32	0.01436	.	.	.	.	.	T	0.00998	0.0033	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36016	-0.9765	9	0.05525	T	0.97	8.3223	1.3962	0.02261	0.3141:0.1014:0.3201:0.2644	.	250	Q8TC56	FA71B_HUMAN	S	250	ENSP00000305596:P250S	ENSP00000305596:P250S	P	-	1	0	FAM71B	156523106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.266000	0.00263	-5.094000	0.00022	-1.223000	0.01593	CCA	-	NULL		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	protein_coding	OTTHUMT00000252570.2	G	NM_130899	-		156590528	-1	no_errors	ENST00000302938	ensembl	human	known	74_37	missense	SNP	0.000	A	A	156590528	G	A	156590528	3	1	196	1	0	0	0	0	1	0	0	0	5610	1174	41	2	1073	2	FAM71B	5	156590528	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	156590528	24324732	811	14083	270	2									
LSM11	134353	genome.wustl.edu	37	chr5	157178427	157178427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctctgggtgaactcCatcgctgtatccgtgagggg	14	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:157178427C>T	ENST00000286307.5	+	2	534	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	160					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTGAACTCCATCGCTGTAT	0.507																																																	0								ENSG00000155858						109	101	104					5																	157178427		2203	4300	6503	LSM11	SO:0001583	missense	0			-	HGNC	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.478C>T	5.37:g.157178427C>T	ENSP00000286307:p.His160Tyr	Somatic	0	59	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	63	35.05	A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP							pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.H160Y	ENST00000286307.5	37	c.478	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197594	0.38806	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.76	5.76	0.90799	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.202845	0.47455	D	0.000227	T	0.34658	0.0905	N	0.05124	-0.11	0.40426	D	0.979899	B	0.30326	0.276	B	0.32393	0.145	T	0.31696	-0.9934	9	0.45353	T	0.12	-13.4329	15.0877	0.72167	0.1417:0.8583:0.0:0.0	.	160	P83369	LSM11_HUMAN	Y	160	.	ENSP00000286307:H160Y	H	+	1	0	LSM11	157111005	0.989000	0.36119	0.998000	0.56505	0.993000	0.82548	2.622000	0.46427	2.882000	0.98803	0.655000	0.94253	CAT	-	superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.507	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	protein_coding	OTTHUMT00000252580.2	C	NM_173491	-		157178427	1	no_errors	ENST00000286307	ensembl	human	known	74_37	missense	SNP	0.990	T	T	157178427	C	T	157178427	3	4	196	1	0	0	0	0	1	0	0	0	9054	594	21	2	484	2	LSM11	5	157178427	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	587899	157178427	23736833	812	14084											
TTC1	7265	genome.wustl.edu	37	chr5	159491941	159491941	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttttacattacaggtAaattaaaagatcttgggaac	7	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:159491941A>T	ENST00000231238.5	+	8	858	c.748A>T	c.(748-750)Aaa>Taa	p.K250*	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Nonsense_Mutation_p.K250*	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	250					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CATTACAGGTAAATTAAAAGA	0.388																																																	0								ENSG00000113312						61	62	61					5																	159491941		2203	4300	6503	TTC1	SO:0001587	stop_gained	0			-	HGNC	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.748A>T	5.37:g.159491941A>T	ENSP00000231238:p.Lys250*	Somatic	0	45	0		0.52429534266604	97	35.76	54	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	B2RCT2|D3DQJ8|Q9BVT3	Nonsense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K250*	ENST00000231238.5	37	c.748	CCDS4348.1	5	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581461	0.86748	.	.	ENSG00000113312	ENST00000231238;ENST00000522793;ENST00000518560	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2074	16.0892	0.81080	1.0:0.0:0.0:0.0	.	.	.	.	X	250;250;82	.	ENSP00000231238:K250X	K	+	1	0	TTC1	159424519	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.610000	0.90902	2.279000	0.76181	0.533000	0.62120	AAA	-	NULL		0.388	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC1	protein_coding	OTTHUMT00000252675.3	A	NM_003314	-		159491941	1	no_errors	ENST00000231238	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	159491941	A	T	159491941	4	4	196	1	0	0	0	0	0	1	0	0	16685	363	13	5	774	5	TTC1	5	159491941	Nonsense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2313514	159491941	21423319	813	14085											
GABRA6	2559	genome.wustl.edu	37	chr5	161113237	161113237	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgactgtctacacacaggCtagaaaatgccctagggaaa	9	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:161113237C>T	ENST00000274545.5	+	2	473	c.40C>T	c.(40-42)Cta>Tta	p.L14L	GABRA6_ENST00000523217.1_Splice_Site_p.L14L|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	14					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|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)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)	TACACACAGGCTAGAAAATGC	0.453										TCGA Ovarian(5;0.080)																																							0								ENSG00000145863						76	74	75					5																	161113237		2203	4300	6503	GABRA6	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.39-1C>T	5.37:g.161113237C>T		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	A8K096|Q4VAV2	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L14	ENST00000274545.5	37	c.40	CCDS4356.1	5																																																																																			-	prints_GABBAa6_rcpt		0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	protein_coding	OTTHUMT00000252707.2	C		-	Silent	161113237	1	no_errors	ENST00000274545	ensembl	human	known	74_37	silent	SNP	0.010	T	T	161113237	C	T	161113237	5	4	196	1	0	0	0	0	0	0	1	0	6167	811	28	2	46	2	GABRA6	5	161113237	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1621296	161113237	19802023	814	14086											
ODZ2	57451	genome.wustl.edu	37	chr5	166711897	166711897	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagaggacgctgtggcaaaGagtgtcgctacacaagctcc	12	12	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:166711897G>A	ENST00000518659.1	+	1	94	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CTB-180C19.1_ENST00000521697.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.E19K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	19	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										CTGTGGCAAAGAGTGTCGCTA	0.522																																																	0								ENSG00000145934						67	65	65					5																	166711897		692	1591	2283	TENM2	SO:0001583	missense	0			-	HGNC	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.55G>A	5.37:g.166711897G>A	ENSP00000429430:p.Glu19Lys	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q9ULU2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E19K	ENST00000518659.1	37	c.55		5	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868051	0.72065	.	.	ENSG00000145934	ENST00000518659;ENST00000545108	T;T	0.41758	0.99;0.99	5.16	5.16	0.70880	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.42063	0.1186	L	0.50333	1.59	0.80722	D	1	B	0.14805	0.011	B	0.22152	0.038	T	0.36939	-0.9727	9	0.87932	D	0	.	15.7493	0.77969	0.0:0.1364:0.8636:0.0	.	19	Q9NT68	TEN2_HUMAN	K	19	ENSP00000429430:E19K;ENSP00000438635:E19K	ENSP00000429430:E19K	E	+	1	0	ODZ2	166644475	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.292000	0.78731	2.398000	0.81561	0.591000	0.81541	GAG	-	pfam_Ten_N		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679	-		166711897	1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	1.000	A	A	166711897	G	A	166711897	3	1	196	1	0	0	0	0	1	0	0	0	10837	943	33	2	57	2	ODZ2	5	166711897	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5598660	166711897	14203363	815	14087											
WWC1	23286	genome.wustl.edu	37	chr5	167850770	167850770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcatcaccaccatccacGaggatgaggtggccaagacc	11	14	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:167850770G>A	ENST00000265293.4	+	11	2009	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	WWC1_ENST00000521089.1_Missense_Mutation_p.E503K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	503					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CACCATCCACGAGGATGAGGT	0.642																																																	0								ENSG00000113645						64	57	60					5																	167850770		2203	4300	6503	WWC1	SO:0001583	missense	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1507G>A	5.37:g.167850770G>A	ENSP00000265293:p.Glu503Lys	Somatic	0	19	0		0.52429534266604	23	8	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	43.75	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E503K	ENST00000265293.4	37	c.1507	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.764095|3.764095	0.69878|0.69878	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.47528|.	0.84;0.84|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.056407|.	0.64402|.	D|.	0.000001|.	T|T	0.71247|0.71247	0.3317|0.3317	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.60160|.	0.987;0.974;0.974;0.974|.	P;P;P;B|.	0.48921|.	0.533;0.595;0.595;0.369|.	T|T	0.68637|0.68637	-0.5356|-0.5356	10|5	0.26408|.	T|.	0.33|.	.|.	18.8007|18.8007	0.92015|0.92015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	503;409;409;503|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	K|Q	503|464;279	ENSP00000265293:E503K;ENSP00000427772:E503K|.	ENSP00000265293:E503K|.	E|R	+|+	1|2	0|0	WWC1|WWC1	167783348|167783348	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.452000|0.452000	0.32318|0.32318	9.863000|9.863000	0.99569|0.99569	2.437000|2.437000	0.82529|0.82529	0.655000|0.655000	0.94253|0.94253	GAG|CGA	-	NULL		0.642	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	G	NM_015238	-		167850770	1	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167850770	G	A	167850770	3	1	196	1	0	0	0	0	1	0	0	0	17418	1059	37	1	1549	1	WWC1	5	167850770	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1138873	167850770	13064490	816	14088											
RARS	5917	genome.wustl.edu	37	chr5	167929064	167929064	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagagagaggggaatccttCtatcaagataggatgaatga	12	4	2	5	rs377078082		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:167929064C>T	ENST00000231572.3	+	9	1065	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	RARS_ENST00000538719.1_Silent_p.F131F	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	337					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGGAATCCTTCTATCAAGATA	0.308													C|||	1	0.000199681	8e-04	0	5008	,	,		10803	0		0	False		,,,				2504	0																0								ENSG00000113643	C		1,4405	2.1+/-5.4	0,1,2202	101	110	107		1011	2.4	1	5		107	0,8590		0,0,4295	no	coding-synonymous	RARS	NM_002887.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		337/661	167929064	1,12995	2203	4295	6498	RARS	SO:0001819	synonymous_variant	0			-	HGNC	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1011C>T	5.37:g.167929064C>T		Somatic	0	74	0		0.52429534266604	49	53.33	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	49	34.67	B2RBS9|Q53GY4|Q9BWA1	Silent	SNP							pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.F337	ENST00000231572.3	37	c.1011	CCDS4367.1	5																																																																																			-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia		0.308	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	protein_coding	OTTHUMT00000252794.2	C	NM_002887	-		167929064	1	no_errors	ENST00000231572	ensembl	human	known	74_37	silent	SNP	1.000	T	T	167929064	C	T	167929064	2	4	196	1	0	0	0	0	0	0	0	1	13066	912	32	2		2	RARS	5	167929064	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	78294	167929064	12986196	817	14089											
SLIT3	6586	genome.wustl.edu	37	chr5	168244462	168244462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtacaggtggttggagtgGaggcgcctgggagagggcgg	22	6	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:168244462G>A	ENST00000519560.1	-	8	1055	c.636C>T	c.(634-636)ctC>ctT	p.L212L	SLIT3_ENST00000332966.8_Silent_p.L212L|SLIT3_ENST00000404867.3_Silent_p.L212L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	212					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTGGAGTGGAGGCGCCTGG	0.622																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						50	46	47					5																	168244462		2203	4300	6503	SLIT3	SO:0001819	synonymous_variant	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.636C>T	5.37:g.168244462G>A		Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP							pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L212	ENST00000519560.1	37	c.636	CCDS4369.1	5																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.622	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168244462	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	SNP	0.879	A	A	168244462	G	A	168244462	2	1	196	1	0	0	0	0	0	0	0	1	14749	1161	41	2		2	SLIT3	5	168244462	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	315398	168244462	12670798	818	14090											
DOCK2	1794	genome.wustl.edu	37	chr5	169446040	169446040	+	Silent	SNP	C	C	T													cttatccctgaggctgagctCcggaaagccaccataccaat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:169446040C>T	ENST00000256935.8	+	33	3389	c.3309C>T	c.(3307-3309)ctC>ctT	p.L1103L	DOCK2_ENST00000520908.1_Silent_p.L595L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L164L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1103	Interaction with CRKL.				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)			AGGCTGAGCTCCGGAAAGCCA	0.443																																																	0								ENSG00000134516						199	196	197					5																	169446040		2203	4300	6503	DOCK2	SO:0001819	synonymous_variant	0			-	HGNC	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.3309C>T	5.37:g.169446040C>T		Somatic	0	36	0		0.52429534266604	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	Q2M3I0|Q96AK7	Silent	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.L1103	ENST00000256935.8	37	c.3309	CCDS4371.1	5																																																																																			-	superfamily_ARM-type_fold		0.443	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	-		169446040	1	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	SNP	0.991	T	T	169446040	C	T	169446040	2	4	196	1	0	0	0	0	0	0	0	1	4689	842	30	2		2	DOCK2	5	169446040	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1201578	169446040	11469220	819	14091	271	2									
DOCK2	1794	genome.wustl.edu	37	chr5	169446041	169446041	+	Missense_Mutation	SNP	C	C	T													ttatccctgaggctgagctcCggaaagccaccataccaatc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:169446041C>T	ENST00000256935.8	+	33	3390	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W	DOCK2_ENST00000520908.1_Missense_Mutation_p.R596W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R165W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1104	Interaction with CRKL.				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)			GGCTGAGCTCCGGAAAGCCAC	0.438																																																	0								ENSG00000134516						200	196	197					5																	169446041		2203	4300	6503	DOCK2	SO:0001583	missense	0			-	HGNC	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.3310C>T	5.37:g.169446041C>T	ENSP00000256935:p.Arg1104Trp	Somatic	0	35	0		0.52429534266604	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	27	41.30	Q2M3I0|Q96AK7	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.R1104W	ENST00000256935.8	37	c.3310	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799727	0.70567	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.73363	-0.74;-0.74;0.36	4.8	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.92026	3.265	0.48511	D	0.999664	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	D	0.90374	0.4383	10	0.87932	D	0	.	13.847	0.63474	0.1589:0.8411:0.0:0.0	.	596;1104	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1104;596;165	ENSP00000256935:R1104W;ENSP00000429283:R596W;ENSP00000438827:R165W	ENSP00000256935:R1104W	R	+	1	2	DOCK2	169378619	0.987000	0.35691	1.000000	0.80357	0.974000	0.67602	2.449000	0.44935	0.943000	0.37553	0.650000	0.86243	CGG	-	superfamily_ARM-type_fold		0.438	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	-		169446041	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	1.000	T	T	169446041	C	T	169446041	3	4	196	1	0	0	0	0	1	0	0	0	4689	643	23	1	3440	1	DOCK2	5	169446041	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	169446041	11469219	820	14092	271	2									
FGF18	8817	genome.wustl.edu	37	chr5	170883570	170883570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcaaggagtgtgtgTtcatcgagaaggttctggag	15	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:170883570T>C	ENST00000274625.5	+	5	929	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	129					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGAGTGTGTGTTCATCGAGAA	0.567																																																	0								ENSG00000156427						83	79	80					5																	170883570		2203	4300	6503	FGF18	SO:0001583	missense	0			-	HGNC	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.385T>C	5.37:g.170883570T>C	ENSP00000274625:p.Phe129Leu	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	D3DQL7|Q6UWF1	Missense_Mutation	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.F129L	ENST00000274625.5	37	c.385	CCDS4378.1	5	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637838	0.87760	.	.	ENSG00000156427	ENST00000274625	D	0.96619	-4.07	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.92970	3.365	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.99253	1.0888	10	0.59425	D	0.04	-5.7582	14.8488	0.70281	0.0:0.0:0.0:1.0	.	129	O76093	FGF18_HUMAN	L	129	ENSP00000274625:F129L	ENSP00000274625:F129L	F	+	1	0	FGF18	170816175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.997000	0.58415	0.533000	0.62120	TTC	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.567	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	protein_coding	OTTHUMT00000252857.2	T	NM_033649, NM_003862	-		170883570	1	no_errors	ENST00000274625	ensembl	human	known	74_37	missense	SNP	1.000	C	C	170883570	T	C	170883570	3	2	196	1	0	0	0	0	1	0	0	0	5848	1725	60	5	403	5	FGF18	5	170883570	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1437529	170883570	10031690	821	14093											
THOC3	84321	genome.wustl.edu	37	chr5	175387067	175387067	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcacaggcaaatgccagcaGaggccttttggggtgccacg	13	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:175387067G>A	ENST00000265097.4	-	6	1051	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	THOC3_ENST00000514861.1_Silent_p.L136L|RP11-91H12.4_ENST00000502813.1_RNA|THOC3_ENST00000510300.1_5'Flank	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	321					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AATGCCAGCAGAGGCCTTTTG	0.498																																																	0								ENSG00000051596						61	65	64					5																	175387067		2202	4298	6500	THOC3	SO:0001819	synonymous_variant	0			-	HGNC	BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"WD repeat domain containing", "THO complex subunits"	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.961C>T	5.37:g.175387067G>A		Somatic	0	69	0		0.52429534266604	85	34.85	46	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	61	22.78	Q6NZ53	Silent	SNP							pfam_WD40_repeat,pfam_TIF_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L321	ENST00000265097.4	37	c.961	CCDS4397.1	5																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.498	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	protein_coding	OTTHUMT00000253148.1	G		-		175387067	-1	no_errors	ENST00000265097	ensembl	human	known	74_37	silent	SNP	1.000	A	A	175387067	G	A	175387067	2	1	196	1	0	0	0	0	0	0	0	1	15873	933	33	2		2	THOC3	5	175387067	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4503497	175387067	5528193	822	14094											
GPRIN1	114787	genome.wustl.edu	37	chr5	176026413	176026413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggatttctgtcatctgaGgatttgggctcagttttcac	11	7	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176026413G>A	ENST00000303991.4	-	2	600	c.423C>T	c.(421-423)tcC>tcT	p.S141S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	141					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCATCTGAGGATTTGGGCT	0.522																																																	0								ENSG00000169258						113	116	115					5																	176026413		2203	4300	6503	GPRIN1	SO:0001819	synonymous_variant	0			-	HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.423C>T	5.37:g.176026413G>A		Somatic	0	58	0		0.52429534266604	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	53	36.14	C9JM70|Q8ND74|Q96PZ4	Silent	SNP							NULL	p.S141	ENST00000303991.4	37	c.423	CCDS4405.1	5																																																																																			-	NULL		0.522	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	G	NM_052899	-		176026413	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	silent	SNP	0.005	A	A	176026413	G	A	176026413	2	1	196	1	0	0	0	0	0	0	0	1	6731	987	35	2		2	GPRIN1	5	176026413	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	639346	176026413	4888847	823	14095											
EIF4E1B	253314	genome.wustl.edu	37	chr5	176070156	176070156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcagcagagaggacgcCcacaggagaaaagtctccaa	14	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176070156C>T	ENST00000318682.6	+	4	673	c.89C>T	c.(88-90)cCc>cTc	p.P30L	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.P30L	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	30					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGGACGCCCACAGGAGAA	0.597																																																	0								ENSG00000175766						41	52	49					5																	176070156		2020	4181	6201	EIF4E1B	SO:0001583	missense	0			-	HGNC		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.89C>T	5.37:g.176070156C>T	ENSP00000323714:p.Pro30Leu	Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36		Missense_Mutation	SNP							pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.P30L	ENST00000318682.6	37	c.89	CCDS47345.1	5	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113799	0.37339	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T	0.41065	1.01;1.01	4.51	-2.62	0.06152	Translation Initiation factor eIF- 4e-like  domain (1);	.	.	.	.	T	0.18841	0.0452	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17198	-1.0377	9	0.35671	T	0.21	.	1.0496	0.01577	0.1419:0.2759:0.3007:0.2816	.	30	A6NMX2	I4E1B_HUMAN	L	30	ENSP00000323714:P30L;ENSP00000427633:P30L	ENSP00000323714:P30L	P	+	2	0	EIF4E1B	176002762	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.665000	0.01965	-0.297000	0.08934	0.561000	0.74099	CCC	-	superfamily_TIF_eIF4e-like_dom		0.597	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E1B	protein_coding	OTTHUMT00000372187.1	C	NM_001099408	-		176070156	1	no_errors	ENST00000318682	ensembl	human	known	74_37	missense	SNP	0.000	T	T	176070156	C	T	176070156	3	4	196	1	0	0	0	0	1	0	0	0	5031	623	22	2	95	2	EIF4E1B	5	176070156	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	43743	176070156	4845104	824	14096											
NSD1	64324	genome.wustl.edu	37	chr5	176721767	176721767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctaactcctcgccagaaGgagcgggcagcttcacctca	10	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176721767G>A	ENST00000439151.2	+	23	7443	c.7398G>A	c.(7396-7398)aaG>aaA	p.K2466K	NSD1_ENST00000354179.4_Silent_p.K2197K|NSD1_ENST00000361032.4_Silent_p.K2363K|NSD1_ENST00000347982.4_Silent_p.K2197K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2466					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		CTCGCCAGAAGGAGCGGGCAG	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0								ENSG00000165671						74	73	73					5																	176721767		2203	4300	6503	NSD1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	-	HGNC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7398G>A	5.37:g.176721767G>A		Somatic	0	28	0		0.52429534266604	31	26.19	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.17	Q96PD8|Q96RN7	Silent	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.K2466	ENST00000439151.2	37	c.7398	CCDS4412.1	5																																																																																			-	NULL		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	G	NM_172349	-		176721767	1	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	SNP	0.999	A	A	176721767	G	A	176721767	2	1	196	1	0	0	0	0	0	0	0	1	10671	991	35	2		2	NSD1	5	176721767	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	651611	176721767	4193493	825	14097											
DBN1	1627	genome.wustl.edu	37	chr5	176894047	176894047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgctcctcctccttcCgcagctcttcttccttctgc	4	20	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176894047C>T	ENST00000309007.5	-	7	791	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	DBN1_ENST00000292385.5_Missense_Mutation_p.R193Q|DBN1_ENST00000393565.1_Missense_Mutation_p.R191Q	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	191					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			CTCCTCCTTCCGCAGCTCTTC	0.677																																																	0								ENSG00000113758						68	72	71					5																	176894047		2203	4300	6503	DBN1	SO:0001583	missense	0			-	HGNC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.572G>A	5.37:g.176894047C>T	ENSP00000308532:p.Arg191Gln	Somatic	0	14	0		0.52429534266604	158	39.92	105	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP							pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.R193Q	ENST00000309007.5	37	c.578	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.596906	0.96602	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41400	1.0;1.0;1.68	4.99	4.99	0.66335	.	0.104177	0.64402	D	0.000009	T	0.67059	0.2853	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.984;0.994;0.997	T	0.71477	-0.4581	10	0.87932	D	0	-20.6955	18.0729	0.89417	0.0:1.0:0.0:0.0	.	141;191;191;193	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	Q	191;193;191;190	ENSP00000308532:R191Q;ENSP00000292385:R193Q;ENSP00000377195:R191Q	ENSP00000292385:R193Q	R	-	2	0	DBN1	176826653	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.064000	0.64338	2.586000	0.87340	0.655000	0.94253	CGG	-	NULL		0.677	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	protein_coding	OTTHUMT00000253429.2	C	NM_080881	-		176894047	-1	no_errors	ENST00000292385	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176894047	C	T	176894047	3	4	196	1	0	0	0	0	1	0	0	0	4254	652	23	1	1409	1	DBN1	5	176894047	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	172280	176894047	4021213	826	14098											
CLK4	57396	genome.wustl.edu	37	chr5	178039426	178039426	+	Missense_Mutation	SNP	C	C	T													tgtctactgacccaaaatgaCctcgggagctctgtagtgcc					rs375302614		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178039426C>T	ENST00000316308.4	-	9	1210	c.1042G>A	c.(1042-1044)Gtc>Atc	p.V348I		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		CCCAAAATGACCTCGGGAGCT	0.408																																																	0								ENSG00000113240	C	ILE/VAL	0,4406		0,0,2203	62	61	62		1042	5.7	1	5		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLK4	NM_020666.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	348/482	178039426	1,13005	2203	4300	6503	CLK4	SO:0001583	missense	0			-	HGNC	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1042G>A	5.37:g.178039426C>T	ENSP00000316948:p.Val348Ile	Somatic	0	81	0		0.52429534266604	35	12.5	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	51	34.62		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V348I	ENST00000316308.4	37	c.1042	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803842	0.90623	0.0	1.16E-4	ENSG00000113240	ENST00000316308	T	0.69040	-0.37	5.68	5.68	0.88126	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	0.69851	0.3157	N	0.13140	0.3	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.83275	0.996;0.996	T	0.74748	-0.3560	10	0.87932	D	0	.	15.2725	0.73717	0.0:1.0:0.0:0.0	.	348;348	B9EG64;Q9HAZ1	.;CLK4_HUMAN	I	348	ENSP00000316948:V348I	ENSP00000316948:V348I	V	-	1	0	CLK4	177972032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.664000	0.90586	0.655000	0.94253	GTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	protein_coding	OTTHUMT00000253479.2	C		-		178039426	-1	no_errors	ENST00000316308	ensembl	human	known	74_37	missense	SNP	1.000	T	T	178039426	C	T	178039426	3	4	196	1	0	0	0	0	1	0	0	0	3541	507	18	2	423	2	CLK4	5	178039426	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1145379	178039426	2875834	827	14099	272	2									
CLK4	57396	genome.wustl.edu	37	chr5	178039427	178039427	+	Silent	SNP	C	C	T													gtctactgacccaaaatgacCtcgggagctctgtagtgccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178039427C>T	ENST00000316308.4	-	9	1209	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		CCAAAATGACCTCGGGAGCTC	0.408																																																	0								ENSG00000113240						63	62	62					5																	178039427		2203	4300	6503	CLK4	SO:0001819	synonymous_variant	0			-	HGNC	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1041G>A	5.37:g.178039427C>T		Somatic	0	83	0		0.52429534266604	38	7.14	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	51	33.77		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E347	ENST00000316308.4	37	c.1041	CCDS4437.1	5																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	protein_coding	OTTHUMT00000253479.2	C		-		178039427	-1	no_errors	ENST00000316308	ensembl	human	known	74_37	silent	SNP	1.000	T	T	178039427	C	T	178039427	2	4	196	1	0	0	0	0	0	0	0	1	3541	680	24	2		2	CLK4	5	178039427	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	178039427	2875833	828	14100	272	2									
GRM6	2916	genome.wustl.edu	37	chr5	178413706	178413706	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccgcagggcaggctgcacaGagacgagggcacctcgtggg	17	13	0	1	rs145771507	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178413706G>A	ENST00000517717.1	-	9	1587	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	GRM6_ENST00000231188.5_Silent_p.L517L|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	517					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AGGCTGCACAGAGACGAGGGC	0.692																																																	0								ENSG00000113262	G		9,4397	17.9+/-39.9	0,9,2194	31	32	31		1549	3.8	0.9	5	dbSNP_134	31	0,8596		0,0,4298	no	coding-synonymous	GRM6	NM_000843.3		0,9,6492	AA,AG,GG		0.0,0.2043,0.0692		517/878	178413706	9,12993	2203	4298	6501	GRM6	SO:0001819	synonymous_variant	0			-	HGNC	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1549C>T	5.37:g.178413706G>A		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47		Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.L517	ENST00000517717.1	37	c.1549	CCDS4442.1	5																																																																																			-	pfam_GPCR_3_9-Cys_dom		0.692	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	protein_coding	OTTHUMT00000253474.2	G		rs145771507		178413706	-1	no_errors	ENST00000231188	ensembl	human	known	74_37	silent	SNP	1.000	A	A	178413706	G	A	178413706	2	1	196	1	0	0	0	0	0	0	0	1	6803	933	33	2		2	GRM6	5	178413706	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	374279	178413706	2501554	829	14101											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178541189	178541189	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccaggcggtggctctatCctgccctccacgttggtgag	12	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178541189C>T	ENST00000251582.7	-	22	3416	c.3315G>A	c.(3313-3315)agG>agA	p.R1105R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1105					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGCTCTATCCTGCCCTCCA	0.572																																																	0								ENSG00000087116						163	123	137					5																	178541189		2203	4300	6503	ADAMTS2	SO:0001819	synonymous_variant	0			-	HGNC	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3315G>A	5.37:g.178541189C>T		Somatic	0	47	0		0.52429534266604	73	54.37	87	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	43	42.11		Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1105	ENST00000251582.7	37	c.3315	CCDS4444.1	5																																																																																			-	NULL		0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	protein_coding	OTTHUMT00000253507.1	C	NM_014244	-		178541189	-1	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	SNP	0.000	T	T	178541189	C	T	178541189	2	4	196	1	0	0	0	0	0	0	0	1	265	854	30	2		2	ADAMTS2	5	178541189	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	127483	178541189	2374071	830	14102											
RNF130	55819	genome.wustl.edu	37	chr5	179390555	179390555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaaactggcaataataAaccattcttctgttgacaaa	6	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:179390555A>G	ENST00000521389.1	-	8	1575	c.1160T>C	c.(1159-1161)tTt>tCt	p.F387S	RNF130_ENST00000261947.4_Intron|RNF130_ENST00000522208.2_Intron|CTC-563A5.2_ENST00000510240.1_RNA	NM_018434.4	NP_060904.2			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAATAATAAACCATTCTTC	0.433																																					GBM(24;432 554 38471 39699 51728)												0								ENSG00000113269						118	97	104					5																	179390555		2203	4300	6503	RNF130	SO:0001583	missense	0			-	HGNC	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1160T>C	5.37:g.179390555A>G	ENSP00000430237:p.Phe387Ser	Somatic	0	54	0		0.52429534266604	422	30.48	185	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	52	42.22		Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F387S	ENST00000521389.1	37	c.1160	CCDS4451.1	5	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201616	0.79015	.	.	ENSG00000113269	ENST00000521389	T	0.05319	3.46	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000004	T	0.13114	0.0318	N	0.14661	0.345	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.17349	-1.0372	10	0.72032	D	0.01	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	387	Q86XS8	GOLI_HUMAN	S	387	ENSP00000430237:F387S	ENSP00000430237:F387S	F	-	2	0	RNF130	179323161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.593000	0.82686	2.192000	0.70111	0.459000	0.35465	TTT	-	NULL		0.433	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF130	protein_coding	OTTHUMT00000253499.3	A	NM_018434	-		179390555	-1	no_errors	ENST00000521389	ensembl	human	known	74_37	missense	SNP	1.000	G	G	179390555	A	G	179390555	3	3	196	1	0	0	0	0	1	0	0	0	13446	14	1	5	107	5	RNF130	5	179390555	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	849366	179390555	1524705	831	14103											
RASGEF1C	255426	genome.wustl.edu	37	chr5	179564927	179564927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggatcagtgtttccagGgaggctgaggatggcgctcc	16	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:179564927G>A	ENST00000393371.2	-	1	422	c.126C>T	c.(124-126)tcC>tcT	p.S42S	RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000361132.4_Silent_p.S42S|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	42	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-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;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTTTCCAGGGAGGCTGAGG	0.672																																																	0								ENSG00000146090						59	54	55					5																	179564927		2202	4300	6502	RASGEF1C	SO:0001819	synonymous_variant	0			-	HGNC	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.126C>T	5.37:g.179564927G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S42	ENST00000393371.2	37	c.126	CCDS4452.1	5																																																																																			-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.672	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	protein_coding	OTTHUMT00000253506.2	G	NM_175062	-		179564927	-1	no_errors	ENST00000361132	ensembl	human	known	74_37	silent	SNP	0.996	A	A	179564927	G	A	179564927	2	1	196	1	0	0	0	0	0	0	0	1	13079	1219	43	2		2	RASGEF1C	5	179564927	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	174372	179564927	1350333	832	14104											
OR2V2	285659	genome.wustl.edu	37	chr5	180582383	180582383	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgtctccagattactggGagctcctgggcctttgggat	13	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:180582383G>A	ENST00000328275.1	+	1	441	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATTACTGGGAGCTCCTGGG	0.498																																																	0								ENSG00000182613						131	128	129					5																	180582383		2203	4300	6503	OR2V2	SO:0001819	synonymous_variant	0			-	HGNC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.441G>A	5.37:g.180582383G>A		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	88	14.56	Q6IFL6|Q8NGV1	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147	ENST00000328275.1	37	c.441	CCDS4461.1	5																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	protein_coding	OTTHUMT00000253529.1	G		-		180582383	1	no_errors	ENST00000328275	ensembl	human	known	74_37	silent	SNP	0.003	A	A	180582383	G	A	180582383	2	1	196	1	0	0	0	0	0	0	0	1	11033	1161	41	2		2	OR2V2	5	180582383	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1017456	180582383	332877	833	14105											
GMDS	2762	genome.wustl.edu	37	chr6	1960164	1960164	+	Missense_Mutation	SNP	G	G	A													aaagagattatacgcctcacGgaagttcaccacaatccaat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:1960164G>A	ENST00000380815.4	-	6	849	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	GMDS_ENST00000530927.1_Missense_Mutation_p.R164C	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	194					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TACGCCTCACGGAAGTTCACC	0.383																																																	0								ENSG00000112699						81	79	80					6																	1960164		2203	4300	6503	GMDS	SO:0001583	missense	0			-	HGNC	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.580C>T	6.37:g.1960164G>A	ENSP00000370194:p.Arg194Cys	Somatic	0	61	0		0.52429534266604	44	51.11	46	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP							pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.R194C	ENST00000380815.4	37	c.580	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132701	0.77662	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.93906	-3.31;-3.31	5.95	5.95	0.96441	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98928	1.0786	10	0.72032	D	0.01	-3.6284	15.0189	0.71613	0.0:0.0:0.8245:0.1755	.	194	O60547	GMDS_HUMAN	C	164;194	ENSP00000436726:R164C;ENSP00000370194:R194C	ENSP00000370194:R194C	R	-	1	0	GMDS	1905163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.668000	0.54554	2.825000	0.97269	0.655000	0.94253	CGT	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase		0.383	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	protein_coding	OTTHUMT00000043380.3	G		-		1960164	-1	no_errors	ENST00000380815	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1960164	G	A	1960164	3	1	196	1	0	0	0	0	1	0	0	0	6488	1116	39	1	562	1	GMDS	6	1960164	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		1960164	169154903	834	14106	273	2									
GMDS	2762	genome.wustl.edu	37	chr6	1960165	1960165	+	Silent	SNP	G	G	A													aagagattatacgcctcacgGaagttcaccacaatccaata							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:1960165G>A	ENST00000380815.4	-	6	848	c.579C>T	c.(577-579)ttC>ttT	p.F193F	GMDS_ENST00000530927.1_Silent_p.F163F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	193					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACGCCTCACGGAAGTTCACCA	0.378																																																	0								ENSG00000112699						81	79	80					6																	1960165		2203	4300	6503	GMDS	SO:0001819	synonymous_variant	0			-	HGNC	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.579C>T	6.37:g.1960165G>A		Somatic	0	61	0		0.52429534266604	43	51.69	46	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP							pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.F193	ENST00000380815.4	37	c.579	CCDS4474.1	6																																																																																			-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase		0.378	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	protein_coding	OTTHUMT00000043380.3	G		-		1960165	-1	no_errors	ENST00000380815	ensembl	human	known	74_37	silent	SNP	1.000	A	A	1960165	G	A	1960165	2	1	196	1	0	0	0	0	0	0	0	1	6488	1165	41	2		2	GMDS	6	1960165	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	1960165	169154902	835	14107	273	2									
C6orf195	154386	genome.wustl.edu	37	chr6	2623974	2623974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgccatcaaatgccCtttctccctcgggagacagg	9	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:2623974C>T	ENST00000296847.3	-	3	606	c.83G>A	c.(82-84)aGg>aAg	p.R28K		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	28										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ATCAAATGCCCTTTCTCCCTC	0.577																																																	0								ENSG00000164385						38	43	42					6																	2623974		2011	4164	6175	C6orf195	SO:0001583	missense	0			-	HGNC	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.83G>A	6.37:g.2623974C>T	ENSP00000296847:p.Arg28Lys	Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	53.49	Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP							NULL	p.R28K	ENST00000296847.3	37	c.83	CCDS43416.1	6	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978839	0.18812	.	.	ENSG00000164385	ENST00000296847	T	0.37235	1.21	2.92	-1.06	0.10002	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.49451	0.611	T	0.06734	-1.0810	9	0.87932	D	0	.	3.3041	0.06993	0.0:0.393:0.2109:0.3961	.	28	Q96MT4	CF195_HUMAN	K	28	ENSP00000296847:R28K	ENSP00000296847:R28K	R	-	2	0	C6orf195	2568973	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.043000	0.12043	-0.257000	0.09459	0.591000	0.81541	AGG	-	NULL		0.577	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf195	protein_coding	OTTHUMT00000039633.1	C	NM_152554	-		2623974	-1	no_errors	ENST00000296847	ensembl	human	known	74_37	missense	SNP	0.000	T	T	2623974	C	T	2623974	3	4	196	1	0	0	0	0	1	0	0	0	2352	681	24	2	304	2	C6orf195	6	2623974	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	663809	2623974	168491093	836	14108											
BMP6	654	genome.wustl.edu	37	chr6	7845455	7845455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccagattcctgagggtgaGgtggtgacggctgcagaatt	15	8	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:7845455G>T	ENST00000283147.6	+	2	906	c.747G>T	c.(745-747)gaG>gaT	p.E249D		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	249					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)					CTGAGGGTGAGGTGGTGACGG	0.438																																																	0								ENSG00000153162						125	123	124					6																	7845455		2203	4300	6503	BMP6	SO:0001583	missense	0			-	HGNC	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.747G>T	6.37:g.7845455G>T	ENSP00000283147:p.Glu249Asp	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	91	22.22	Q5TCP3	Missense_Mutation	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E249D	ENST00000283147.6	37	c.747	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266382	0.80358	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72394	-0.65	5.41	4.55	0.56014	Transforming growth factor-beta, N-terminal (1);	0.241301	0.44285	D	0.000461	T	0.71169	0.3308	M	0.63208	1.945	0.53688	D	0.999976	P	0.49447	0.924	P	0.56088	0.791	T	0.74137	-0.3762	10	0.51188	T	0.08	.	13.8734	0.63634	0.0735:0.0:0.9265:0.0	.	249	P22004	BMP6_HUMAN	D	171;249;212	ENSP00000283147:E249D	ENSP00000283147:E249D	E	+	3	2	BMP6	7790454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.720000	0.54933	1.278000	0.44430	0.557000	0.71058	GAG	-	pfam_TGF-b_N		0.438	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	protein_coding	OTTHUMT00000039794.1	G	NM_001718	-		7845455	1	no_errors	ENST00000283147	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7845455	G	T	7845455	3	4	196	1	0	0	0	0	1	0	0	0	1464	991	35	3	753	3	BMP6	6	7845455	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5221481	7845455	163269612	837	14109											
NEDD9	4739	genome.wustl.edu	37	chr6	11185840	11185840	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggctctgagagggcttcCacttcgagatgtcattctcc	11	11	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:11185840C>T	ENST00000379446.5	-	7	2226	c.2060G>A	c.(2059-2061)tGg>tAg	p.W687*	NEDD9_ENST00000504387.1_Nonsense_Mutation_p.W687*|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	687					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGAGGGCTTCCACTTCGAGAT	0.498																																																	0								ENSG00000111859						121	111	114					6																	11185840		2203	4300	6503	NEDD9	SO:0001587	stop_gained	0			-	HGNC	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2060G>A	6.37:g.11185840C>T	ENSP00000368759:p.Trp687*	Somatic	0	41	0		0.52429534266604	17	29.17	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Nonsense_Mutation	SNP							pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.W687*	ENST00000379446.5	37	c.2060	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.467970	0.99180	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	.	.	.	5.98	5.98	0.97165	.	0.056049	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2982	20.4496	0.99125	0.0:1.0:0.0:0.0	.	.	.	.	X	687	.	ENSP00000368759:W687X	W	-	2	0	NEDD9	11293826	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.378000	0.79679	2.838000	0.97847	0.563000	0.77884	TGG	-	pfam_CAS_DUF3513		0.498	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	protein_coding	OTTHUMT00000039853.2	C	NM_006403	-		11185840	-1	no_errors	ENST00000379446	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	11185840	C	T	11185840	4	4	196	1	0	0	0	0	0	1	0	0	10315	595	21	2	448	2	NEDD9	6	11185840	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3340385	11185840	159929227	838	14110											
HIVEP1	3096	genome.wustl.edu	37	chr6	12164419	12164419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggtgaccatgcaaggcttGatggcctgagtaaaatggac	13	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:12164419G>A	ENST00000379388.2	+	9	8214	c.7882G>A	c.(7882-7884)Gat>Aat	p.D2628N	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D493N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2628					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)				TGCAAGGCTTGATGGCCTGAG	0.547																																																	0								ENSG00000095951						52	59	57					6																	12164419		2085	4223	6308	HIVEP1	SO:0001583	missense	0			-	HGNC	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.7882G>A	6.37:g.12164419G>A	ENSP00000368698:p.Asp2628Asn	Somatic	0	31	0		0.52429534266604	22	21.43	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D2628N	ENST00000379388.2	37	c.7882	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278729	0.40294	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.32515	2.95;1.45	5.48	3.7	0.42460	.	0.710276	0.11591	N	0.548752	T	0.07324	0.0185	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.10450	0.005	T	0.38156	-0.9674	10	0.18276	T	0.48	-4.5967	7.7878	0.29101	0.1468:0.1335:0.7196:0.0	.	2628	P15822	ZEP1_HUMAN	N	2628;493;610	ENSP00000368698:D2628N;ENSP00000445617:D493N	ENSP00000368698:D2628N	D	+	1	0	HIVEP1	12272405	.	.	0.001000	0.08648	0.137000	0.21094	.	.	0.695000	0.31675	0.580000	0.79431	GAT	-	NULL		0.547	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	protein_coding	OTTHUMT00000039870.2	G	NM_002114	-		12164419	1	no_errors	ENST00000379388	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12164419	G	A	12164419	3	1	196	1	0	0	0	0	1	0	0	0	7188	1290	45	2	7912	2	HIVEP1	6	12164419	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	978579	12164419	158950648	839	14111											
KIF13A	63971	genome.wustl.edu	37	chr6	17781058	17781058	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttttcacaattaggtaaAtcctttcattctgtggtgtg	9	6	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:17781058A>C	ENST00000259711.6	-	31	3854	c.3749T>G	c.(3748-3750)aTt>aGt	p.I1250S	KIF13A_ENST00000378843.2_Missense_Mutation_p.I1237S|KIF13A_ENST00000378816.5_Missense_Mutation_p.I1250S|KIF13A_ENST00000378814.5_Missense_Mutation_p.I1237S|KIF13A_ENST00000378826.2_Missense_Mutation_p.I1250S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1250					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AATTAGGTAAATCCTTTCATT	0.433																																																	0								ENSG00000137177						138	135	136					6																	17781058		1951	4153	6104	KIF13A	SO:0001583	missense	0			-	HGNC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3749T>G	6.37:g.17781058A>C	ENSP00000259711:p.Ile1250Ser	Somatic	0	44	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1250S	ENST00000259711.6	37	c.3749	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.9|29.9	5.045787|5.045787	0.93685|0.93685	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.76839	.|-1.0;1.43;-1.05;-1.01;-1.0;-1.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.048854	.|0.85682	.|D	.|0.000000	T|T	0.79805|0.79805	0.4509|0.4509	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999996|0.999996	.|P;P;P;P	.|0.48640	.|0.913;0.893;0.862;0.893	.|P;P;P;P	.|0.53809	.|0.617;0.568;0.735;0.568	T|T	0.82829|0.82829	-0.0264|-0.0264	5|10	.|0.87932	.|D	.|0	.|.	16.2987|16.2987	0.82793|0.82793	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1237;1250;1250;1237	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	V|S	644|1237;254;1250;1250;1237;1250;248	.|ENSP00000368091:I1237S;ENSP00000425616:I254S;ENSP00000259711:I1250S;ENSP00000368103:I1250S;ENSP00000368120:I1237S;ENSP00000368093:I1250S	.|ENSP00000259711:I1250S	F|I	-|-	1|2	0|0	KIF13A|KIF13A	17889037|17889037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.910000|8.910000	0.92685|0.92685	2.257000|2.257000	0.74773|0.74773	0.459000|0.459000	0.35465|0.35465	TTT|ATT	-	pfam_Kinesin-like		0.433	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	protein_coding	OTTHUMT00000039954.4	A		-		17781058	-1	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	SNP	1.000	C	C	17781058	A	C	17781058	3	2	196	1	0	0	0	0	1	0	0	0	8276	101	4	5	1729	5	KIF13A	6	17781058	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	5616639	17781058	153334009	840	14112											
HDGFL1	154150	genome.wustl.edu	37	chr6	22570533	22570533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggcatgccgaggcaccGggcggcggagatcgcgacag	19	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:22570533G>A	ENST00000230012.3	+	1	856	c.729G>A	c.(727-729)ccG>ccA	p.P243P	HDGFL1_ENST00000510882.2_Silent_p.P243P	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	243										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCGAGGCACCGGGCGGCGGAG	0.682																																																	0								ENSG00000112273						7	10	9					6																	22570533		2150	4233	6383	HDGFL1	SO:0001819	synonymous_variant	0			-	HGNC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.729G>A	6.37:g.22570533G>A		Somatic	0	22	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	53	18.46	Q96MJ6	Silent	SNP							pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.P243	ENST00000230012.3	37	c.729	CCDS34347.1	6																																																																																			-	NULL		0.682	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	protein_coding	OTTHUMT00000043500.1	G	NM_138574	-		22570533	1	no_errors	ENST00000230012	ensembl	human	known	74_37	silent	SNP	0.000	A	A	22570533	G	A	22570533	2	1	196	1	0	0	0	0	0	0	0	1	7021	1103	39	1		1	HDGFL1	6	22570533	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4789475	22570533	148544534	841	14113											
SLC17A3	10786	genome.wustl.edu	37	chr6	25862543	25862543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaggaatcattgagctggGattgagggcttgtgctgttg	16	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:25862543G>A	ENST00000360657.3	-	3	506	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SLC17A3_ENST00000397060.4_Missense_Mutation_p.S74F|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74F			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448																																																	0								ENSG00000124564						196	152	167					6																	25862543		2203	4300	6503	SLC17A3	SO:0001583	missense	0			-	HGNC	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.221C>T	6.37:g.25862543G>A	ENSP00000353873:p.Ser74Phe	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	66	20.48	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S74F	ENST00000360657.3	37	c.221	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200207	0.22121	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.63417	0.28;-0.04;-0.04	3.81	-0.919	0.10478	.	.	.	.	.	T	0.26955	0.0660	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.24426	0.002;0.103;0.045;0.002	B;B;B;B	0.27076	0.003;0.076;0.076;0.001	T	0.31081	-0.9956	9	0.51188	T	0.08	.	0.4997	0.00578	0.2806:0.1844:0.3468:0.1882	.	74;55;74;74	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	F	74	ENSP00000380250:S74F;ENSP00000353873:S74F;ENSP00000355307:S74F	ENSP00000353873:S74F	S	-	2	0	SLC17A3	25970522	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.358000	0.07641	-0.205000	0.10219	0.557000	0.71058	TCC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.448	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	protein_coding	OTTHUMT00000040070.2	G		-		25862543	-1	no_errors	ENST00000397060	ensembl	human	known	74_37	missense	SNP	0.000	A	A	25862543	G	A	25862543	3	1	196	1	0	0	0	0	1	0	0	0	14426	1174	41	2	1315	2	SLC17A3	6	25862543	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3292010	25862543	145252524	842	14114											
HIST1H3A	8350	genome.wustl.edu	37	chr6	26020939	26020939	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccagcgcctggtgcgcgaGattgcgcaggactttaaaac	12	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:26020939G>A	ENST00000357647.3	+	1	222	c.222G>A	c.(220-222)gaG>gaA	p.E74E	HIST1H1A_ENST00000244573.3_5'Flank|HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	74					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)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGTGCGCGAGATTGCGCAGG	0.577																																																	0								ENSG00000198366						45	48	47					6																	26020939		2203	4300	6503	HIST1H3A	SO:0001819	synonymous_variant	0			-	HGNC	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"Histones / Replication-dependent"	4766	protein-coding gene	gene with protein product		602810	"H3 histone family, member A", "histone 1, H3a"	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.222G>A	6.37:g.26020939G>A		Somatic	0	61	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	19.67	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E74	ENST00000357647.3	37	c.222	CCDS4570.1	6																																																																																			-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.577	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3A	protein_coding	OTTHUMT00000040080.1	G	NM_003529	-		26020939	1	no_errors	ENST00000357647	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26020939	G	A	26020939	2	1	196	1	0	0	0	0	0	0	0	1	7157	933	33	2		2	HIST1H3A	6	26020939	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	158396	26020939	145094128	843	14115											
BTN1A1	696	genome.wustl.edu	37	chr6	26509372	26509372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctccattctaagctaatCcctacccaacccagccaagg	4	17	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:26509372C>T	ENST00000244513.6	+	7	1617	c.1551C>T	c.(1549-1551)atC>atT	p.I517I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	517						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTAAGCTAATCCCTACCCAAC	0.522																																																	0								ENSG00000124557						91	97	95					6																	26509372		2203	4300	6503	BTN1A1	SO:0001819	synonymous_variant	0			-	HGNC	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1551C>T	6.37:g.26509372C>T		Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	22	62.07	Q4VAN3|Q4VAN4|Q9H458	Silent	SNP							pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.I517	ENST00000244513.6	37	c.1551	CCDS4614.1	6																																																																																			-	NULL		0.522	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	protein_coding	OTTHUMT00000043776.1	C	NM_001732	-		26509372	1	no_errors	ENST00000244513	ensembl	human	known	74_37	silent	SNP	0.968	T	T	26509372	C	T	26509372	2	4	196	1	0	0	0	0	0	0	0	1	1561	845	30	2		2	BTN1A1	6	26509372	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	488433	26509372	144605695	844	14116											
ZNF322A	79692	genome.wustl.edu	37	chr6	26638375	26638375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcagaactctgaccaAaattcttgccacaaatgtca	6	11	4	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:26638375A>T	ENST00000415922.2	-	4	1052	c.407T>A	c.(406-408)tTt>tAt	p.F136Y	ZNF322_ENST00000471278.1_Missense_Mutation_p.F136Y|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	136					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)										ACTCTGACCAAAATTCTTGCC	0.413																																																	0								ENSG00000181315						31	33	32					6																	26638375		2200	4289	6489	ZNF322	SO:0001583	missense	0			-	HGNC	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.407T>A	6.37:g.26638375A>T	ENSP00000418897:p.Phe136Tyr	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F136Y	ENST00000415922.2	37	c.407	CCDS4617.1	6	.	.	.	.	.	.	.	.	.	.	a	13.62	2.290399	0.40494	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.40476	1.03;1.03	4.86	3.61	0.41365	.	0.000000	0.42548	D	0.000697	T	0.44456	0.1294	M	0.74546	2.27	0.30612	N	0.759352	D	0.67145	0.996	D	0.66196	0.942	T	0.45571	-0.9252	10	0.66056	D	0.02	-18.9339	4.6857	0.12757	0.7076:0.1941:0.0983:0.0	.	136	Q6U7Q0	ZN322_HUMAN	Y	136	ENSP00000418897:F136Y;ENSP00000419728:F136Y	ENSP00000418897:F136Y	F	-	2	0	ZNF322	26746354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.546000	0.60705	2.166000	0.68216	0.533000	0.62120	TTT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF322	protein_coding	OTTHUMT00000040126.2	A	NM_024639	-		26638375	-1	no_errors	ENST00000415922	ensembl	human	known	74_37	missense	SNP	0.997	T	T	26638375	A	T	26638375	3	4	196	1	0	0	0	0	1	0	0	0	17848	14	1	5	805	5	ZNF322A	6	26638375	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	129003	26638375	144476692	845	14117											
SCAND3	114821	genome.wustl.edu	37	chr6	28543503	28543503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcgcttgtaactctttctCcatgcgagtacgtccaccat	6	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:28543503C>T	ENST00000452236.2	-	3	1596	c.979G>A	c.(979-981)Gag>Aag	p.E327K	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						AACTCTTTCTCCATGCGAGTA	0.373																																																	0								ENSG00000232040						259	230	240					6																	28543503		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.979G>A	6.37:g.28543503C>T	ENSP00000395259:p.Glu327Lys	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.E327K	ENST00000452236.2	37	c.979	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743127	0.69418	.	.	ENSG00000232040	ENST00000452236	T	0.01406	4.93	3.44	3.44	0.39384	.	.	.	.	.	T	0.02012	0.0063	L	0.47716	1.5	0.27725	N	0.944982	D	0.63880	0.993	D	0.68192	0.956	T	0.52525	-0.8564	9	0.39692	T	0.17	.	10.6113	0.45423	0.0:1.0:0.0:0.0	.	327	Q6R2W3	SCND3_HUMAN	K	327	ENSP00000395259:E327K	ENSP00000395259:E327K	E	-	1	0	SCAND3	28651482	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.380000	0.20602	1.930000	0.55929	0.650000	0.86243	GAG	-	NULL		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	C		-		28543503	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28543503	C	T	28543503	3	4	196	1	0	0	0	0	1	0	0	0	13884	864	30	2	3006	2	SCAND3	6	28543503	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1905128	28543503	142571564	846	14118											
ZNF311	282890	genome.wustl.edu	37	chr6	28966513	28966513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttctctattactcacctGggtaggagcagcttagggac	11	9	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:28966513G>A	ENST00000377179.3	-	6	925	c.413C>T	c.(412-414)cCa>cTa	p.P138L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	138					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						TTACTCACCTGGGTAGGAGCA	0.488																																																	0								ENSG00000197935						114	111	112					6																	28966513		1510	2708	4218	ZNF311	SO:0001583	missense	0			-	HGNC	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.413C>T	6.37:g.28966513G>A	ENSP00000366384:p.Pro138Leu	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	52	23.53	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P138L	ENST00000377179.3	37	c.413	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207618	0.39003	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.05649	3.41	3.73	3.73	0.42828	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.42767	D	0.993825	D	0.54047	0.964	P	0.55785	0.784	T	0.60326	-0.7285	9	0.30854	T	0.27	-0.6899	13.842	0.63444	0.0:0.0:1.0:0.0	.	138	Q5JNZ3	ZN311_HUMAN	L	138;46	ENSP00000366384:P138L	ENSP00000366384:P138L	P	-	2	0	ZNF311	29074492	0.994000	0.37717	0.969000	0.41365	0.556000	0.35491	1.990000	0.40717	2.001000	0.58596	0.591000	0.81541	CCA	-	NULL		0.488	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	protein_coding	OTTHUMT00000076631.3	G	XM_212581	-		28966513	-1	no_errors	ENST00000377179	ensembl	human	known	74_37	missense	SNP	0.997	A	A	28966513	G	A	28966513	3	1	196	1	0	0	0	0	1	0	0	0	17841	1348	47	2	1595	2	ZNF311	6	28966513	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	423010	28966513	142148554	847	14119											
OR5V1	81696	genome.wustl.edu	37	chr6	29323687	29323687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagttgaaccacacaccCcacataagaaatgctttttt	4	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29323687C>T	ENST00000377154.1	-	4	585	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	OR5V1_ENST00000543825.1_Missense_Mutation_p.G96R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	96						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(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCACACACCCCACATAAGAA	0.438																																					Ovarian(32;43 883 21137 32120 42650)												0								ENSG00000243729						73	73	73					6																	29323687		2203	4299	6502	OR5V1	SO:0001583	missense	0			-	HGNC		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.286G>A	6.37:g.29323687C>T	ENSP00000366359:p.Gly96Arg	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.35	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G96R	ENST00000377154.1	37	c.286	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117134	0.20795	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.09817	2.94;2.94	4.36	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	N	0.004937	T	0.11410	0.0278	M	0.63169	1.94	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.06516	-1.0822	10	0.54805	T	0.06	-20.9392	5.7314	0.18042	0.143:0.6407:0.138:0.0782	.	96	Q9UGF6	OR5V1_HUMAN	R	96	ENSP00000366359:G96R;ENSP00000443309:G96R	ENSP00000366356:G96R	G	-	1	0	OR5V1	29431666	0.001000	0.12720	0.002000	0.10522	0.022000	0.10575	1.422000	0.34826	0.201000	0.20466	-0.310000	0.09108	GGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	protein_coding	OTTHUMT00000076398.3	C		-		29323687	-1	no_errors	ENST00000377154	ensembl	human	known	74_37	missense	SNP	0.008	T	T	29323687	C	T	29323687	3	4	196	1	0	0	0	0	1	0	0	0	11186	623	22	2	682	2	OR5V1	6	29323687	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	357174	29323687	141791380	848	14120											
OR12D2	26529	genome.wustl.edu	37	chr6	29364937	29364937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattggttttttccatgCcctgctgcactccgtaatga	9	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29364937C>T	ENST00000383555.2	+	1	522	c.461C>T	c.(460-462)gCc>gTc	p.A154V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTTTCCATGCCCTGCTGCAC	0.478																																																	0								ENSG00000168787						155	149	151					6																	29364937		1511	2709	4220	OR12D2	SO:0001583	missense	0			-	HGNC		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.461C>T	6.37:g.29364937C>T	ENSP00000373047:p.Ala154Val	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A154V	ENST00000383555.2	37	c.461	CCDS4659.1	6	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489764	0.26686	.	.	ENSG00000168787	ENST00000383555	T	0.39997	1.05	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.46718	0.1407	M	0.73430	2.235	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.34179	-0.9839	10	0.56958	D	0.05	.	6.6202	0.22798	0.1811:0.7212:0.0:0.0977	.	154	P58182	O12D2_HUMAN	V	154	ENSP00000373047:A154V	ENSP00000373047:A154V	A	+	2	0	OR12D2	29472916	0.000000	0.05858	0.428000	0.26697	0.104000	0.19210	0.811000	0.27198	2.019000	0.59389	0.205000	0.17691	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	protein_coding	OTTHUMT00000076054.2	C		-		29364937	1	no_errors	ENST00000383555	ensembl	human	known	74_37	missense	SNP	0.001	T	T	29364937	C	T	29364937	3	4	196	1	0	0	0	0	1	0	0	0	10933	739	26	2	463	2	OR12D2	6	29364937	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	41250	29364937	141750130	849	14121											
MAS1L	116511	genome.wustl.edu	37	chr6	29455294	29455294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagtcacctgtaagaacCccactgccgagcagcaaaga	10	13	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29455294C>T	ENST00000377127.3	-	1	444	c.386G>A	c.(385-387)gGg>gAg	p.G129E		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	129					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGTAAGAACCCCACTGCCGA	0.502																																					NSCLC(153;755 1987 3859 11251 32945)												0								ENSG00000204687						65	61	63					6																	29455294		2203	4300	6503	MAS1L	SO:0001583	missense	0			-	HGNC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.386G>A	6.37:g.29455294C>T	ENSP00000366331:p.Gly129Glu	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.29	Q5SUN5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G129E	ENST00000377127.3	37	c.386	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	C	6.562	0.472062	0.12461	.	.	ENSG00000204687	ENST00000377127	T	0.71579	-0.58	1.15	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39172	0.1068	N	0.14661	0.345	0.09310	N	1	P	0.34837	0.472	P	0.53266	0.722	T	0.54589	-0.8271	9	0.30854	T	0.27	.	0.3307	0.00318	0.2098:0.1682:0.2121:0.4098	.	129	P35410	MAS1L_HUMAN	E	129	ENSP00000366331:G129E	ENSP00000366331:G129E	G	-	2	0	MAS1L	29563273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.619000	0.02048	-1.447000	0.01943	-1.358000	0.01219	GGG	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	protein_coding	OTTHUMT00000076126.2	C	NM_052967	-		29455294	-1	no_errors	ENST00000377127	ensembl	human	known	74_37	missense	SNP	0.000	T	T	29455294	C	T	29455294	3	4	196	1	0	0	0	0	1	0	0	0	9323	623	22	2	752	2	MAS1L	6	29455294	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	90357	29455294	141659773	850	14122											
GNL1	2794	genome.wustl.edu	37	chr6	30522613	30522613	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttcccaagatagtcttgGaagctccgttcctcttggct	8	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:30522613G>A	ENST00000376621.3	-	4	1426	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	152					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GATAGTCTTGGAAGCTCCGTT	0.488																																																	0								ENSG00000204590						114	82	93					6																	30522613		1511	2709	4220	GNL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.456C>T	6.37:g.30522613G>A		Somatic	0	41	0		0.52429534266604	109	29.22	45	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	B0S838|Q96CT5	Silent	SNP							pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.F152	ENST00000376621.3	37	c.456	CCDS4680.1	6																																																																																			-	NULL		0.488	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	protein_coding	OTTHUMT00000076241.2	G		-		30522613	-1	no_errors	ENST00000376621	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30522613	G	A	30522613	2	1	196	1	0	0	0	0	0	0	0	1	6537	1165	41	2		2	GNL1	6	30522613	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1067319	30522613	140592454	851	14123											
DPCR1	135656	genome.wustl.edu	37	chr6	30918953	30918953	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcctacagaaaatggAgaaaggaccccatttaccaa	9	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:30918953A>T	ENST00000462446.1	+	2	2740	c.2712A>T	c.(2710-2712)ggA>ggT	p.G904G	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	356						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGAAAATGGAGAAAGGACCC	0.502																																																	0								ENSG00000168631						85	75	78					6																	30918953		692	1591	2283	DPCR1	SO:0001819	synonymous_variant	0			-	HGNC	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2712A>T	6.37:g.30918953A>T		Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	43	43.59	C9IZC0|Q658M7|Q8WYN2	Silent	SNP							NULL	p.G904	ENST00000462446.1	37	c.2712	CCDS4692.2	6																																																																																			-	NULL		0.502	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	protein_coding	OTTHUMT00000076173.3	A	NM_080870	-		30918953	1	no_errors	ENST00000462446	ensembl	human	novel	74_37	silent	SNP	0.002	T	T	30918953	A	T	30918953	2	4	196	1	0	0	0	0	0	0	0	1	4714	291	11	5		5	DPCR1	6	30918953	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	396340	30918953	140196114	852	14124											
BAT2	7916	genome.wustl.edu	37	chr6	31603452	31603452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattctgggcactgtgtcCcggagcccagctcctcaggc	13	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31603452C>T	ENST00000376033.2	+	24	5701	c.5467C>T	c.(5467-5469)Ccg>Tcg	p.P1823S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1823S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1823						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCACTGTGTCCCGGAGCCCAG	0.592																																																	0								ENSG00000204469						37	40	39					6																	31603452		1509	2708	4217	PRRC2A	SO:0001583	missense	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5467C>T	6.37:g.31603452C>T	ENSP00000365201:p.Pro1823Ser	Somatic	0	32	0		0.52429534266604	166	47.3	149	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP							pfam_BAT2_N	p.P1823S	ENST00000376033.2	37	c.5467	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151507	0.09185	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01647	4.71;4.71	5.03	3.25	0.37280	.	0.350757	0.24973	N	0.034137	T	0.00784	0.0026	L	0.48642	1.525	0.39139	D	0.962	B	0.12013	0.005	B	0.12837	0.008	T	0.45991	-0.9223	10	0.87932	D	0	-2.8354	4.2838	0.10844	0.1837:0.6333:0.0:0.183	.	1823	P48634	PRC2A_HUMAN	S	1817;1806;1823;1823;1048	ENSP00000365175:P1823S;ENSP00000365201:P1823S	ENSP00000365175:P1823S	P	+	1	0	PRRC2A	31711431	0.956000	0.32656	0.996000	0.52242	0.190000	0.23558	1.029000	0.30140	0.719000	0.32188	-0.268000	0.10319	CCG	-	NULL		0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	C	NM_080686	-		31603452	1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	SNP	0.995	T	T	31603452	C	T	31603452	3	4	196	1	0	0	0	0	1	0	0	0	1319	623	22	2	5557	2	BAT2	6	31603452	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	684499	31603452	139511615	853	14125											
C6orf25	80740	genome.wustl.edu	37	chr6	31691544	31691544	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggacgccgaccgatcCtgtgggcctcttcgagcggg	14	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31691544C>T	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Silent_p.L64L|C6orf25_ENST00000375809.3_Silent_p.L64L|C6orf25_ENST00000480039.1_Silent_p.L64L|LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000375805.2_Silent_p.L64L	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CCGACCGATCCTGTGGGCCTC	0.677																																																	0								ENSG00000204420						44	51	49					6																	31691544		2203	4298	6501	C6orf25	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691544C>T	Exception_encountered	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	Q5SRS8|Q8IY94	Silent	SNP							NULL	p.L64	ENST00000375819.2	37	c.190	CCDS4714.1	6																																																																																			-	NULL		0.677	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf25	protein_coding	OTTHUMT00000076530.2	C		-		31691544	1	no_errors	ENST00000375806	ensembl	human	known	74_37	silent	SNP	0.954	T	T	31691544	C	T	31691544	1	4	196	0	1	0	0	0	0	0	0	0	2362	680	24	2		2	C6orf25	6	31691544	5'Flank	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	88092	31691544	139423523	854	14126											
DDAH2	23564	genome.wustl.edu	37	chr6	31696749	31696749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcaatgactcctcaggtgGcagttctagcagctgtagcc	12	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31696749G>T	ENST00000375789.2	-	1	820	c.190C>A	c.(190-192)Cca>Aca	p.P64T	DDAH2_ENST00000375792.3_Missense_Mutation_p.P64T|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375787.2_Missense_Mutation_p.P64T			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	64					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	TCCTCAGGTGGCAGTTCTAGC	0.647																																																	0								ENSG00000213722						103	63	77					6																	31696749		1511	2709	4220	DDAH2	SO:0001583	missense	0			-	HGNC	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.190C>A	6.37:g.31696749G>T	ENSP00000364945:p.Pro64Thr	Somatic	0	31	0		0.52429534266604	250	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2BEZ7	Missense_Mutation	SNP							pfam_Amidino_trans	p.P64T	ENST00000375789.2	37	c.190	CCDS4718.1	6	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835599	0.71373	.	.	ENSG00000213722	ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437	.	.	.	5.11	5.11	0.69529	.	0.055905	0.64402	D	0.000001	T	0.73916	0.3648	M	0.83774	2.66	0.58432	D	0.99999	D	0.56521	0.976	P	0.60789	0.879	T	0.76046	-0.3102	8	.	.	.	1.0E-4	16.0828	0.81017	0.0:0.0:1.0:0.0	.	64	O95865	DDAH2_HUMAN	T	64	.	.	P	-	1	0	DDAH2	31804728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.644000	0.61397	2.646000	0.89796	0.655000	0.94253	CCA	-	NULL		0.647	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH2	protein_coding	OTTHUMT00000076432.2	G		-		31696749	-1	no_errors	ENST00000375787	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31696749	G	T	31696749	3	4	196	1	0	0	0	0	1	0	0	0	4324	1203	42	3	691	3	DDAH2	6	31696749	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5205	31696749	139418318	855	14127											
C6orf27	80737	genome.wustl.edu	37	chr6	31735445	31735445	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatgtctccgtggatccgGactgtgatcttctggagcag	13	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31735445G>A	ENST00000375688.4	-	11	1790	c.1590C>T	c.(1588-1590)gtC>gtT	p.V530V	VWA7_ENST00000447450.1_Silent_p.V530V|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Silent_p.V530V			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	530						extracellular region (GO:0005576)											CGTGGATCCGGACTGTGATCT	0.582																																																	0								ENSG00000204396						136	136	136					6																	31735445		2203	4300	6503	VWA7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1590C>T	6.37:g.31735445G>A		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP							NULL	p.V530	ENST00000375688.4	37	c.1590	CCDS4721.2	6																																																																																			-	NULL		0.582	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	protein_coding	OTTHUMT00000076233.2	G	NM_025258	-		31735445	-1	no_errors	ENST00000375686	ensembl	human	known	74_37	silent	SNP	0.135	A	A	31735445	G	A	31735445	2	1	196	1	0	0	0	0	0	0	0	1	2364	1161	41	2		2	C6orf27	6	31735445	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	38696	31735445	139379622	856	14128											
TNXB	7148	genome.wustl.edu	37	chr6	32017184	32017184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacacgcaccacctggGgctgcccgtccctgtccttg	10	19	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017184G>A	ENST00000375244.3	-	28	9821	c.9620C>T	c.(9619-9621)cCc>cTc	p.P3207L	TNXB_ENST00000375247.2_Missense_Mutation_p.P3205L			P22105	TENX_HUMAN	tenascin XB	3252					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCACCTGGGGCTGCCCGTC	0.672																																																	0								ENSG00000168477						62	67	65					6																	32017184		1286	2547	3833	TNXB	SO:0001583	missense	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9620C>T	6.37:g.32017184G>A	ENSP00000364393:p.Pro3207Leu	Somatic	0	73	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	35	53.95	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P3205L	ENST00000375244.3	37	c.9614		6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549039	0.45383	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.46;0.46	4.43	4.43	0.53597	.	0.000000	0.47852	D	0.000208	T	0.46014	0.1371	M	0.88842	2.985	0.37503	D	0.91683	B	0.02656	0.0	B	0.01281	0.0	T	0.55636	-0.8110	10	0.39692	T	0.17	.	13.9686	0.64225	0.0:0.0:1.0:0.0	.	3205	P22105-3	.	L	3207;3205	ENSP00000364393:P3207L;ENSP00000364396:P3205L	ENSP00000364393:P3207L	P	-	2	0	TNXB	32125162	1.000000	0.71417	0.991000	0.47740	0.006000	0.05464	3.070000	0.50033	2.011000	0.59026	0.313000	0.20887	CCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32017184	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32017184	G	A	32017184	3	1	196	1	0	0	0	0	1	0	0	0	16353	1232	43	2	5167	2	TNXB	6	32017184	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	281739	32017184	139097883	857	14129											
TNXB	7148	genome.wustl.edu	37	chr6	32017346	32017346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtgctgggttctgtgGggctgggggtctcttcctct	15	11	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017346G>A	ENST00000375244.3	-	28	9659	c.9458C>T	c.(9457-9459)cCc>cTc	p.P3153L	TNXB_ENST00000375247.2_Missense_Mutation_p.P3151L			P22105	TENX_HUMAN	tenascin XB	3198	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTTCTGTGGGGCTGGGGGT	0.637																																																	0								ENSG00000168477						33	37	36					6																	32017346		1171	2501	3672	TNXB	SO:0001583	missense	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9458C>T	6.37:g.32017346G>A	ENSP00000364393:p.Pro3153Leu	Somatic	0	85	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	32	61.90	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P3151L	ENST00000375244.3	37	c.9452		6	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923853	0.34002	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56941	0.57;0.43	4.03	4.03	0.46877	.	0.000000	0.46758	D	0.000278	T	0.27663	0.0680	L	0.53249	1.67	0.27505	N	0.951852	B	0.02656	0.0	B	0.06405	0.002	T	0.08513	-1.0718	10	0.27082	T	0.32	.	11.6038	0.51020	0.0:0.0:1.0:0.0	.	3151	P22105-3	.	L	3153;3151	ENSP00000364393:P3153L;ENSP00000364396:P3151L	ENSP00000364393:P3153L	P	-	2	0	TNXB	32125324	0.134000	0.22483	1.000000	0.80357	0.129000	0.20672	0.916000	0.28651	2.094000	0.63399	0.485000	0.47835	CCC	-	NULL		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32017346	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	SNP	0.814	A	A	32017346	G	A	32017346	3	1	196	1	0	0	0	0	1	0	0	0	16353	1232	43	2	5329	2	TNXB	6	32017346	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	162	32017346	139097721	858	14130											
TNXB	7148	genome.wustl.edu	37	chr6	32017937	32017937	+	Nonsense_Mutation	SNP	G	G	A													cccatccccattcctgtactGgaccaggaagtggtcaaact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017937G>A	ENST00000375244.3	-	27	9478	c.9277C>T	c.(9277-9279)Cag>Tag	p.Q3093*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.Q3091*			P22105	TENX_HUMAN	tenascin XB	3138					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCCTGTACTGGACCAGGAAG	0.637																																																	0								ENSG00000168477						62	67	65					6																	32017937		1215	2520	3735	TNXB	SO:0001587	stop_gained	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9277C>T	6.37:g.32017937G>A	ENSP00000364393:p.Gln3093*	Somatic	0	54	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.Q3091*	ENST00000375244.3	37	c.9271		6	.	.	.	.	.	.	.	.	.	.	g	51	18.304589	0.99903	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	3.59	3.59	0.41128	.	0.000000	0.44688	D	0.000427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	12.2757	0.54733	0.0:0.0:1.0:0.0	.	.	.	.	X	3093;3091	.	ENSP00000364393:Q3093X	Q	-	1	0	TNXB	32125915	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.825000	0.62708	1.832000	0.53329	0.456000	0.33151	CAG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32017937	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	32017937	G	A	32017937	4	1	196	1	0	0	0	0	0	1	0	0	16353	1357	47	2	5514	2	TNXB	6	32017937	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	591	32017937	139097130	859	14131	274	2									
TNXB	7148	genome.wustl.edu	37	chr6	32017938	32017938	+	Silent	SNP	G	G	A													ccatccccattcctgtactgGaccaggaagtggtcaaactg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017938G>A	ENST00000375244.3	-	27	9477	c.9276C>T	c.(9274-9276)gtC>gtT	p.V3092V	TNXB_ENST00000375247.2_Silent_p.V3090V			P22105	TENX_HUMAN	tenascin XB	3137					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.637																																																	0								ENSG00000168477						63	67	66					6																	32017938		1215	2520	3735	TNXB	SO:0001819	synonymous_variant	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9276C>T	6.37:g.32017938G>A		Somatic	0	53	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V3090	ENST00000375244.3	37	c.9270		6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	G	NM_019105	-		32017938	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	SNP	0.999	A	A	32017938	G	A	32017938	2	1	196	1	0	0	0	0	0	0	0	1	16353	1161	41	2		2	TNXB	6	32017938	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	32017938	139097129	860	14132	274	2									
AGER	177	genome.wustl.edu	37	chr6	32150476	32150476	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcctccagaggcacaggctCtgggagttggaagggttttg	15	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32150476C>T	ENST00000375076.4	-	7	793		c.e7-1		AGER_ENST00000438221.2_Splice_Site|AGER_ENST00000375067.3_Splice_Site|AGER_ENST00000375069.3_Splice_Site|AGER_ENST00000375070.3_Splice_Site|AGER_ENST00000375055.2_Splice_Site|AGER_ENST00000375065.5_Intron|RNF5_ENST00000427134.2_Intron|XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor						cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGCACAGGCTCTGGGAGTTGG	0.562																																																	0								ENSG00000204305						69	74	72					6																	32150476		1510	2709	4219	AGER	SO:0001630	splice_region_variant	0			-	HGNC	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.692-1G>A	6.37:g.32150476C>T		Somatic	0	19	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58	A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Splice_Site	SNP							-	e7-1	ENST00000375076.4	37	c.785-1	CCDS4746.1	6	.	.	.	.	.	.	.	.	.	.	C	5.087	0.201781	0.09652	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000438221;ENST00000375069	.	.	.	4.92	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4101	0.38487	0.0:0.9024:0.0:0.0976	.	.	.	.	.	-1	.	.	.	-	.	.	AGER	32258454	1.000000	0.71417	0.988000	0.46212	0.085000	0.17905	2.088000	0.41663	1.296000	0.44742	0.462000	0.41574	.	-	-		0.562	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	protein_coding	OTTHUMT00000076200.1	C	NM_001136	-	Intron	32150476	-1	no_errors	ENST00000375070	ensembl	human	known	74_37	splice_site	SNP	0.992	T	T	32150476	C	T	32150476	5	4	196	1	0	0	0	0	0	0	1	0	379	927	32	2	572	2	AGER	6	32150476	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	132538	32150476	138964591	861	14133											
NOTCH4	4855	genome.wustl.edu	37	chr6	32181931	32181931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagccagagggctggGggtagcaggtccccccatgg	17	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32181931G>A	ENST00000375023.3	-	13	2261	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	708	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGCTGGGGGTAGCAGGT	0.612																																																	0								ENSG00000204301						106	102	103					6																	32181931		2203	4300	6503	NOTCH4	SO:0001583	missense	0			-	HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2123C>T	6.37:g.32181931G>A	ENSP00000364163:p.Pro708Leu	Somatic	0	16	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P708L	ENST00000375023.3	37	c.2123	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002674	0.54254	.	.	ENSG00000204301	ENST00000375023	D	0.87334	-2.24	4.18	4.18	0.49190	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42294	D	0.000738	T	0.72518	0.3470	L	0.29908	0.895	0.80722	D	1	B	0.23490	0.086	B	0.32149	0.141	T	0.74241	-0.3729	10	0.52906	T	0.07	.	9.2879	0.37769	0.0:0.0:0.7853:0.2147	.	708	Q99466	NOTC4_HUMAN	L	708	ENSP00000364163:P708L	ENSP00000364163:P708L	P	-	2	0	NOTCH4	32289909	0.997000	0.39634	0.991000	0.47740	0.442000	0.32017	4.245000	0.58734	2.169000	0.68431	0.561000	0.74099	CCC	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	G		-		32181931	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	SNP	0.993	A	A	32181931	G	A	32181931	3	1	196	1	0	0	0	0	1	0	0	0	10553	1232	43	2	3960	2	NOTCH4	6	32181931	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	31455	32181931	138933136	862	14134											
HLA-DRB5	3127	genome.wustl.edu	37	chr6	32487164	32487164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccattccactgtgagaGggctcgtcacgcttgggtgc	12	13	1	1	rs111541713	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32487164G>A	ENST00000374975.3	-	3	697	c.635C>T	c.(634-636)cCt>cTt	p.P212L		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CACTGTGAGAGGGCTCGTCAC	0.493																																																	0								ENSG00000198502						71	82	78					6																	32487164		1871	3700	5571	HLA-DRB5	SO:0001583	missense	0			-	HGNC		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.635C>T	6.37:g.32487164G>A	ENSP00000364114:p.Pro212Leu	Somatic	0	91	0		0.52429534266604	851	17.9	186	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	79	37.30		Missense_Mutation	SNP							pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P212L	ENST00000374975.3	37	c.635	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	10.31	1.316031	0.23908	.	.	ENSG00000198502	ENST00000374975	T	0.18960	2.18	4.36	3.44	0.39384	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.151509	0.64402	D	0.000010	T	0.42539	0.1207	H	0.95260	3.645	0.26034	N	0.981707	D;P	0.76494	0.999;0.77	D;B	0.66602	0.945;0.324	T	0.47849	-0.9085	10	0.87932	D	0	.	11.287	0.49228	0.0:0.0:0.8161:0.1839	.	139;212	Q29973;Q30154	.;DRB5_HUMAN	L	212	ENSP00000364114:P212L	ENSP00000364114:P212L	P	-	2	0	HLA-DRB5	32595142	0.994000	0.37717	0.035000	0.18076	0.115000	0.19883	1.967000	0.40491	1.149000	0.42402	0.556000	0.70494	CCT	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	protein_coding	OTTHUMT00000076022.2	G	NM_002125	rs111541713		32487164	-1	no_errors	ENST00000374975	ensembl	human	known	74_37	missense	SNP	0.118	A	A	32487164	G	A	32487164	3	1	196	1	0	0	0	0	1	0	0	0	7211	1000	35	2	181	2	HLA-DRB5	6	32487164	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	305233	32487164	138627903	863	14135											
HLA-DRB1	3123	genome.wustl.edu	37	chr6	32548563	32548563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaacagcccggccccaagGaagagcaggcccagcacaaa	11	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32548563G>A	ENST00000360004.5	-	4	828	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGGCCCCAAGGAAGAGCAGGC	0.547										Multiple Myeloma(14;0.17)																																							0								ENSG00000196126						92	106	101					6																	32548563		1511	2709	4220	HLA-DRB1	SO:0001819	synonymous_variant	0			-	HGNC	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.723C>T	6.37:g.32548563G>A		Somatic	0	160	0		0.52429534266604	3957	0.2	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	160	16.67	P01914|Q9MYF5	Silent	SNP							pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.F241	ENST00000360004.5	37	c.723	CCDS47409.1	6																																																																																			-	NULL		0.547	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	protein_coding	OTTHUMT00000076393.3	G	NM_002124	-		32548563	-1	no_errors	ENST00000360004	ensembl	human	known	74_37	silent	SNP	0.998	A	A	32548563	G	A	32548563	2	1	196	1	0	0	0	0	0	0	0	1	7210	1165	41	2		2	HLA-DRB1	6	32548563	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	61399	32548563	138566504	864	14136											
COL11A2	1302	genome.wustl.edu	37	chr6	33136329	33136329	+	Silent	SNP	C	C	T													ggccctgggggtccattctcCccggtgggaccaggggatcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33136329C>T	ENST00000374708.4	-	52	3927	c.3669G>A	c.(3667-3669)ggG>ggA	p.G1223G	COL11A2_ENST00000374714.1_Silent_p.G1283G|COL11A2_ENST00000361917.1_Silent_p.G1202G|COL11A2_ENST00000374712.1_Silent_p.G1228G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Silent_p.G1309G|COL11A2_ENST00000374713.1_Silent_p.G1262G|COL11A2_ENST00000357486.1_Silent_p.G1288G|COL11A2_ENST00000395197.1_Silent_p.G1249G	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1309	Triple-helical 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)			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						GTCCATTCTCCCCGGTGGGAC	0.632																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						47	44	45					6																	33136329		1511	2709	4220	COL11A2	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000374708.4:c.3669G>A	6.37:g.33136329C>T		Somatic	0	44	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1309	ENST00000374708.4	37	c.3927	CCDS43452.1	6																																																																																			-	NULL		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	C		-		33136329	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	silent	SNP	0.993	T	T	33136329	C	T	33136329	2	4	196	1	0	0	0	0	0	0	0	1	3670	610	22	2		2	COL11A2	6	33136329	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	587766	33136329	137978738	865	14137	275	2									
COL11A2	1302	genome.wustl.edu	37	chr6	33136330	33136330	+	Missense_Mutation	SNP	C	C	T													gccctgggggtccattctccCcggtgggaccaggggatccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33136330C>T	ENST00000374708.4	-	52	3926	c.3668G>A	c.(3667-3669)gGg>gAg	p.G1223E	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1309E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249E	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1309	Triple-helical 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)			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						TCCATTCTCCCCGGTGGGACC	0.632																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						46	43	44					6																	33136330		1511	2709	4220	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.3668G>A	6.37:g.33136330C>T	ENSP00000363840:p.Gly1223Glu	Somatic	0	43	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1309E	ENST00000374708.4	37	c.3926	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490178	0.64074	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99429	-5.89;-3.23;-3.23;-3.23;-5.89;-5.89;-5.89;-5.89	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97332	0.9951	10	0.87932	D	0	.	14.2085	0.65750	0.0:1.0:0.0:0.0	.	1202;1223;1309	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	E	1223;1309;1288;1283;1262;1249;1228;1202	ENSP00000363840:G1223E;ENSP00000339915:G1309E;ENSP00000350079:G1288E;ENSP00000363846:G1283E;ENSP00000363845:G1262E;ENSP00000378623:G1249E;ENSP00000363844:G1228E;ENSP00000355123:G1202E	ENSP00000339915:G1309E	G	-	2	0	COL11A2	33244308	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.541000	0.67212	2.205000	0.71048	0.551000	0.68910	GGG	-	NULL		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	C		-		33136330	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33136330	C	T	33136330	3	4	196	1	0	0	0	0	1	0	0	0	3670	623	22	2	1336	2	COL11A2	6	33136330	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	33136330	137978737	866	14138	275	2									
COL11A2	1302	genome.wustl.edu	37	chr6	33144520	33144520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcctttggttccagggGgaccttccttccctgggtga	13	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33144520G>A	ENST00000374708.4	-	24	2093	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	COL11A2_ENST00000374714.1_Missense_Mutation_p.P672L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P591L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P617L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Missense_Mutation_p.P698L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P651L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P677L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P638L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	698	Triple-helical 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)			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						GGTTCCAGGGGGACCTTCCTT	0.547																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						95	98	97					6																	33144520		2203	4300	6503	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.1835C>T	6.37:g.33144520G>A	ENSP00000363840:p.Pro612Leu	Somatic	0	71	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	70	30.69	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P698L	ENST00000374708.4	37	c.2093	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946839	0.73672	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96885	-4.16;-3.19;-4.16;-3.19;-4.16;-4.16;-4.16;-4.16	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.39633	1.23	0.80722	D	1	D;P;D	0.76494	0.967;0.672;0.999	D;P;D	0.68765	0.943;0.579;0.96	D	0.95070	0.8203	10	0.41790	T	0.15	.	13.0062	0.58705	0.0:0.0:1.0:0.0	.	591;612;698	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	L	612;698;677;672;651;638;617;591	ENSP00000363840:P612L;ENSP00000339915:P698L;ENSP00000350079:P677L;ENSP00000363846:P672L;ENSP00000363845:P651L;ENSP00000378623:P638L;ENSP00000363844:P617L;ENSP00000355123:P591L	ENSP00000339915:P698L	P	-	2	0	COL11A2	33252498	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.510000	0.67018	2.459000	0.83118	0.549000	0.68633	CCC	-	NULL		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	G		-		33144520	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	0.999	A	A	33144520	G	A	33144520	3	1	196	1	0	0	0	0	1	0	0	0	3670	1232	43	2	3281	2	COL11A2	6	33144520	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8190	33144520	137970547	867	14139											
COL11A2	1302	genome.wustl.edu	37	chr6	33157101	33157101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatgtcacccatacctggGaaaagctggcgagtgggtgc	13	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33157101G>A	ENST00000374708.4	-	2	486	c.228C>T	c.(226-228)ttC>ttT	p.F76F	COL11A2_ENST00000374714.1_Silent_p.F76F|COL11A2_ENST00000361917.1_Silent_p.F76F|COL11A2_ENST00000374712.1_Silent_p.F76F|COL11A2_ENST00000395194.1_Silent_p.F76F|COL11A2_ENST00000341947.2_Silent_p.F76F|COL11A2_ENST00000374713.1_Silent_p.F76F|COL11A2_ENST00000357486.1_Silent_p.F76F|COL11A2_ENST00000395197.1_Silent_p.F76F	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	76	Laminin G-like.				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)			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						CCATACCTGGGAAAAGCTGGC	0.617																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						55	49	51					6																	33157101		1511	2709	4220	COL11A2	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000374708.4:c.228C>T	6.37:g.33157101G>A		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.F76	ENST00000374708.4	37	c.228	CCDS43452.1	6																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	G		-		33157101	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33157101	G	A	33157101	2	1	196	1	0	0	0	0	0	0	0	1	3670	1165	41	2		2	COL11A2	6	33157101	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	12581	33157101	137957966	868	14140											
COL11A2	1302	genome.wustl.edu	37	chr6	33157204	33157204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccggacaccatcagggaggGaggggaacctcagggcccgg	17	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33157204G>A	ENST00000374708.4	-	2	383	c.125C>T	c.(124-126)tCc>tTc	p.S42F	COL11A2_ENST00000374714.1_Missense_Mutation_p.S42F|COL11A2_ENST00000361917.1_Missense_Mutation_p.S42F|COL11A2_ENST00000374712.1_Missense_Mutation_p.S42F|COL11A2_ENST00000395194.1_Missense_Mutation_p.S42F|COL11A2_ENST00000341947.2_Missense_Mutation_p.S42F|COL11A2_ENST00000374713.1_Missense_Mutation_p.S42F|COL11A2_ENST00000357486.1_Missense_Mutation_p.S42F|COL11A2_ENST00000395197.1_Missense_Mutation_p.S42F	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	42					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)			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						ATCAGGGAGGGAGGGGAACCT	0.612																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						65	60	62					6																	33157204		1511	2709	4220	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.125C>T	6.37:g.33157204G>A	ENSP00000363840:p.Ser42Phe	Somatic	0	50	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.S42F	ENST00000374708.4	37	c.125	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977293	0.53720	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32	4.25	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.195548	0.36234	N	0.002709	T	0.02848	0.0085	M	0.76002	2.32	0.19300	N	0.999975	P;B;B;D	0.56521	0.666;0.189;0.189;0.976	B;B;B;P	0.47528	0.202;0.077;0.077;0.549	T	0.25676	-1.0125	10	0.72032	D	0.01	.	8.2076	0.31465	0.1091:0.0:0.8909:0.0	.	42;42;42;42	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	F	42	ENSP00000363840:S42F;ENSP00000339915:S42F;ENSP00000350079:S42F;ENSP00000363846:S42F;ENSP00000363845:S42F;ENSP00000378623:S42F;ENSP00000363844:S42F;ENSP00000355123:S42F;ENSP00000405520:S42F;ENSP00000378620:S42F	ENSP00000339915:S42F	S	-	2	0	COL11A2	33265182	0.001000	0.12720	0.998000	0.56505	0.769000	0.43574	0.667000	0.25112	2.355000	0.79922	0.501000	0.49751	TCC	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	G		-		33157204	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	0.361	A	A	33157204	G	A	33157204	3	1	196	1	0	0	0	0	1	0	0	0	3670	1174	41	2	5420	2	COL11A2	6	33157204	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	103	33157204	137957863	869	14141											
SLC39A7	7922	genome.wustl.edu	37	chr6	33171585	33171585	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtgctgattgcccaccttGagtgaggggtggataaacta	14	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33171585G>A	ENST00000374677.3	+	7	1778	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.E469K	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	469				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCCCACCTTGAGTGAGGGGT	0.597																																																	0								ENSG00000112473						52	54	54					6																	33171585		1970	4149	6119	SLC39A7	SO:0001583	missense	0			-	HGNC	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1405G>A	6.37:g.33171585G>A	ENSP00000363809:p.Glu469Lys	Somatic	0	25	0		0.52429534266604	551	50.14	555	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP							pfam_ZIP,prints_Kininogen	p.E469K	ENST00000374677.3	37	c.1405	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475974	0.63737	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.65364	-0.15;-0.15	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.81112	2.525	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.971;0.978	T	0.79438	-0.1803	10	0.87932	D	0	-4.943	15.3789	0.74637	0.0:0.0:1.0:0.0	.	450;469	B4DVK8;Q92504	.;S39A7_HUMAN	K	469;450;374;469	ENSP00000363807:E469K;ENSP00000363809:E469K	ENSP00000363807:E469K	E	+	1	0	SLC39A7	33279563	1.000000	0.71417	0.966000	0.40874	0.209000	0.24338	7.164000	0.77533	2.494000	0.84150	0.549000	0.68633	GAG	-	NULL		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	protein_coding	OTTHUMT00000076499.2	G	NM_006979	-		33171585	1	no_errors	ENST00000374675	ensembl	human	known	74_37	missense	SNP	0.999	A	A	33171585	G	A	33171585	3	1	196	1	0	0	0	0	1	0	0	0	14631	1291	45	2	1431	2	SLC39A7	6	33171585	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	14381	33171585	137943482	870	14142											
ZBTB22	9278	genome.wustl.edu	37	chr6	33283754	33283754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccagatctgggtcttgggGaaccaggggtgttggcgctg	17	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33283754G>A	ENST00000431845.2	-	2	1091	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P314S|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	314					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGTCTTGGGGAACCAGGGGT	0.562																																																	0								ENSG00000236104						104	87	93					6																	33283754		2203	4300	6503	ZBTB22	SO:0001583	missense	0			-	HGNC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.940C>T	6.37:g.33283754G>A	ENSP00000407545:p.Pro314Ser	Somatic	0	71	0		0.52429534266604	21	22.22	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	65	19.75	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P314S	ENST00000431845.2	37	c.940	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	G	2.377	-0.342971	0.05243	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.04406	3.63;3.63	3.88	0.739	0.18324	.	.	.	.	.	T	0.00496	0.0016	N	0.01874	-0.695	0.25334	N	0.989009	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	9	0.09590	T	0.72	.	7.3553	0.26714	0.3559:0.0:0.6441:0.0	.	314	O15209	ZBT22_HUMAN	S	314	ENSP00000404403:P314S;ENSP00000407545:P314S	ENSP00000404403:P314S	P	-	1	0	ZBTB22	33391732	1.000000	0.71417	0.861000	0.33841	0.715000	0.41141	1.322000	0.33689	0.239000	0.21243	0.448000	0.29417	CCC	-	NULL		0.562	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	protein_coding	OTTHUMT00000076183.2	G		-		33283754	-1	no_errors	ENST00000418724	ensembl	human	known	74_37	missense	SNP	0.971	A	A	33283754	G	A	33283754	3	1	196	1	0	0	0	0	1	0	0	0	17537	1174	41	2	968	2	ZBTB22	6	33283754	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	112169	33283754	137831313	871	14143											
LEMD2	221496	genome.wustl.edu	37	chr6	33752145	33752145	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccagcttggatggccagGaaattgtagagttcatgcag	12	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33752145G>A	ENST00000293760.5	-	3	856	c.837C>T	c.(835-837)ttC>ttT	p.F279F	LEMD2_ENST00000508327.1_5'UTR|LEMD2_ENST00000502643.1_5'Flank	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	279					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GGATGGCCAGGAAATTGTAGA	0.547																																																	0								ENSG00000161904						124	112	116					6																	33752145		2203	4300	6503	LEMD2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.837C>T	6.37:g.33752145G>A		Somatic	0	45	0		0.52429534266604	30	52.38	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP							pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.F279	ENST00000293760.5	37	c.837	CCDS4785.1	6																																																																																			-	pfam_Inner-Nucl-membr_MAN1		0.547	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	protein_coding	OTTHUMT00000040209.3	G	XM_166338	-		33752145	-1	no_errors	ENST00000293760	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33752145	G	A	33752145	2	1	196	1	0	0	0	0	0	0	0	1	8722	1165	41	2		2	LEMD2	6	33752145	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	468391	33752145	137362922	872	14144											
PACSIN1	29993	genome.wustl.edu	37	chr6	34496562	34496562	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actggcagaaggacgcctatCacaagcagatcatgggtggc	13	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34496562C>T	ENST00000538621.1	+	4	609	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	PACSIN1_ENST00000374043.2_Missense_Mutation_p.H80Y|PACSIN1_ENST00000244458.2_Missense_Mutation_p.H122Y|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	122	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGACGCCTATCACAAGCAGAT	0.552																																																	0								ENSG00000124507						174	156	162					6																	34496562		2203	4300	6503	PACSIN1	SO:0001583	missense	0			-	HGNC	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.364C>T	6.37:g.34496562C>T	ENSP00000439639:p.His122Tyr	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	58	13.43	Q9P2G8	Missense_Mutation	SNP							pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.H122Y	ENST00000538621.1	37	c.364	CCDS4793.1	6	.	.	.	.	.	.	.	.	.	.	c	22.6	4.315431	0.81358	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.57907	0.52;0.37;0.52	4.05	4.05	0.47172	.	0.106402	0.64402	D	0.000005	T	0.70954	0.3283	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.77920	-0.2407	10	0.72032	D	0.01	-9.9654	16.4007	0.83640	0.0:1.0:0.0:0.0	.	122	Q9BY11	PACN1_HUMAN	Y	122;80;122;122	ENSP00000244458:H122Y;ENSP00000363155:H80Y;ENSP00000439639:H122Y	ENSP00000244458:H122Y	H	+	1	0	PACSIN1	34604540	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.642000	0.83385	2.253000	0.74438	0.450000	0.29827	CAC	-	NULL		0.552	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN1	protein_coding	OTTHUMT00000040236.1	C		-		34496562	1	no_errors	ENST00000244458	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34496562	C	T	34496562	3	4	196	1	0	0	0	0	1	0	0	0	11376	826	29	2	374	2	PACSIN1	6	34496562	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	744417	34496562	136618505	873	14145											
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34803228	34803228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagaaagagcctggcccCtgaacctgtgcaggttagag	12	10	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34803228C>T	ENST00000192788.5	+	7	998	c.827C>T	c.(826-828)cCt>cTt	p.P276L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P276L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	276							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGCCTGGCCCCTGAACCTGTG	0.493																																																	0								ENSG00000065060						62	64	63					6																	34803228		1946	4138	6084	UHRF1BP1	SO:0001583	missense	0			-	HGNC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.827C>T	6.37:g.34803228C>T	ENSP00000192788:p.Pro276Leu	Somatic	0	52	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	Q9NXE0	Missense_Mutation	SNP							NULL	p.P276L	ENST00000192788.5	37	c.827	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842337	0.91197	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08458	3.09;3.09	4.72	4.72	0.59763	.	0.063176	0.64402	D	0.000003	T	0.10208	0.0250	L	0.40543	1.245	0.80722	D	1	D	0.58620	0.983	P	0.53266	0.722	T	0.03524	-1.1028	10	0.72032	D	0.01	-15.8177	18.2449	0.89982	0.0:1.0:0.0:0.0	.	276	Q6BDS2	URFB1_HUMAN	L	276	ENSP00000192788:P276L;ENSP00000400628:P276L	ENSP00000192788:P276L	P	+	2	0	UHRF1BP1	34911206	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.251000	0.78297	2.632000	0.89209	0.650000	0.86243	CCT	-	NULL		0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	protein_coding	OTTHUMT00000040260.1	C	NM_017754	-		34803228	1	no_errors	ENST00000192788	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34803228	C	T	34803228	3	4	196	1	0	0	0	0	1	0	0	0	16975	681	24	2	853	2	UHRF1BP1	6	34803228	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	306666	34803228	136311839	874	14146											
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34827037	34827037	+	Silent	SNP	C	C	T													cagcagctggcagggaagggCcatgaggcagtagagtccct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34827037C>T	ENST00000192788.5	+	14	3075	c.2904C>T	c.(2902-2904)ggC>ggT	p.G968G	UHRF1BP1_ENST00000452449.2_Silent_p.G968G	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	968							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGGAAGGGCCATGAGGCAG	0.562																																																	0								ENSG00000065060						38	41	40					6																	34827037		2047	4200	6247	UHRF1BP1	SO:0001819	synonymous_variant	0			-	HGNC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2904C>T	6.37:g.34827037C>T		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	15.69	Q9NXE0	Silent	SNP							NULL	p.G968	ENST00000192788.5	37	c.2904	CCDS43455.1	6																																																																																			-	NULL		0.562	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	protein_coding	OTTHUMT00000040260.1	C	NM_017754	-		34827037	1	no_errors	ENST00000192788	ensembl	human	known	74_37	silent	SNP	0.998	T	T	34827037	C	T	34827037	2	4	196	1	0	0	0	0	0	0	0	1	16975	726	26	2		2	UHRF1BP1	6	34827037	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	23809	34827037	136288030	875	14147	276	2									
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34827038	34827038	+	Missense_Mutation	SNP	C	C	T													agcagctggcagggaagggcCatgaggcagtagagtcccta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34827038C>T	ENST00000192788.5	+	14	3076	c.2905C>T	c.(2905-2907)Cat>Tat	p.H969Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.H969Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	969							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGGAAGGGCCATGAGGCAGT	0.562																																																	0								ENSG00000065060						38	41	40					6																	34827038		2046	4199	6245	UHRF1BP1	SO:0001583	missense	0			-	HGNC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2905C>T	6.37:g.34827038C>T	ENSP00000192788:p.His969Tyr	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	Q9NXE0	Missense_Mutation	SNP							NULL	p.H969Y	ENST00000192788.5	37	c.2905	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757035	0.49468	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08370	3.1;3.1	5.79	5.79	0.91817	.	0.557477	0.18693	N	0.133784	T	0.03564	0.0102	N	0.14661	0.345	0.36416	D	0.864031	D	0.55385	0.971	P	0.45099	0.469	T	0.57148	-0.7861	10	0.21540	T	0.41	-9.5758	18.2012	0.89839	0.0:1.0:0.0:0.0	.	969	Q6BDS2	URFB1_HUMAN	Y	969	ENSP00000192788:H969Y;ENSP00000400628:H969Y	ENSP00000192788:H969Y	H	+	1	0	UHRF1BP1	34935016	1.000000	0.71417	0.918000	0.36340	0.578000	0.36192	4.097000	0.57741	2.731000	0.93534	0.591000	0.81541	CAT	-	NULL		0.562	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	protein_coding	OTTHUMT00000040260.1	C	NM_017754	-		34827038	1	no_errors	ENST00000192788	ensembl	human	known	74_37	missense	SNP	0.998	T	T	34827038	C	T	34827038	3	4	196	1	0	0	0	0	1	0	0	0	16975	594	21	2	2959	2	UHRF1BP1	6	34827038	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	34827038	136288029	876	14148	276	2									
SCUBE3	222663	genome.wustl.edu	37	chr6	35211404	35211404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaacgtattaccacggccAgacggagcagtgtgtgccat	14	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35211404A>G	ENST00000274938.7	+	16	1943	c.1943A>G	c.(1942-1944)cAg>cGg	p.Q648R	SCUBE3_ENST00000394681.1_Missense_Mutation_p.Q664R	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 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						TACCACGGCCAGACGGAGCAG	0.667																																																	0								ENSG00000146197						42	39	40					6																	35211404		2203	4300	6503	SCUBE3	SO:0001583	missense	0			-	HGNC	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.1943A>G	6.37:g.35211404A>G	ENSP00000274938:p.Gln648Arg	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54		Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.Q664R	ENST00000274938.7	37	c.1991	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	A	12.28	1.892047	0.33442	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.14391	2.51;2.51	5.43	4.2	0.49525	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.110177	0.64402	D	0.000006	T	0.02807	0.0084	N	0.11064	0.09	0.40007	D	0.975235	B;B	0.09022	0.002;0.002	B;B	0.12156	0.004;0.007	T	0.37753	-0.9692	10	0.22109	T	0.4	.	12.0969	0.53761	0.8566:0.1434:0.0:0.0	.	664;648	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	R	664;648	ENSP00000378174:Q664R;ENSP00000274938:Q648R	ENSP00000274938:Q648R	Q	+	2	0	SCUBE3	35319382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.051000	0.64257	2.073000	0.62155	0.528000	0.53228	CAG	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom		0.667	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	protein_coding	OTTHUMT00000040275.1	A	NM_152753	-		35211404	1	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	SNP	1.000	G	G	35211404	A	G	35211404	3	3	196	1	0	0	0	0	1	0	0	0	13954	188	7	5	2005	5	SCUBE3	6	35211404	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	384366	35211404	135903663	877	14149											
LHFPL5	222662	genome.wustl.edu	37	chr6	35773750	35773750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactgccatgttctttgtGgccttgggcatgttcctcat	10	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35773750G>A	ENST00000373853.1	+	1	681	c.303G>A	c.(301-303)gtG>gtA	p.V101V	LHFPL5_ENST00000360215.1_Silent_p.V101V			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	101					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGTTCTTTGTGGCCTTGGGCA	0.547																																																	0								ENSG00000197753						171	169	169					6																	35773750		2203	4300	6503	LHFPL5	SO:0001819	synonymous_variant	0			-	HGNC	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.303G>A	6.37:g.35773750G>A		Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B3KX66	Silent	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.V101	ENST00000373853.1	37	c.303	CCDS4812.1	6																																																																																			-	pfam_Lipome_HGMIC_fus_partner-like		0.547	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	protein_coding	OTTHUMT00000040323.1	G	NM_182548	-		35773750	1	no_errors	ENST00000360215	ensembl	human	known	74_37	silent	SNP	1.000	A	A	35773750	G	A	35773750	2	1	196	1	0	0	0	0	0	0	0	1	8770	1335	47	2		2	LHFPL5	6	35773750	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	562346	35773750	135341317	878	14150											
SRPK1	6732	genome.wustl.edu	37	chr6	35838094	35838094	+	Missense_Mutation	SNP	C	C	T													cattttattaggtgggttctCtttcaagggtctttcaacag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35838094C>T	ENST00000373825.2	-	10	1240	c.955G>A	c.(955-957)Gag>Aag	p.E319K	SRPK1_ENST00000373822.1_Missense_Mutation_p.E212K|SRPK1_ENST00000423325.2_Missense_Mutation_p.E303K					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GGTGGGTTCTCTTTCAAGGGT	0.373																																					NSCLC(31;67 978 16289 24856 26454)												0								ENSG00000096063						115	106	109					6																	35838094		1824	4070	5894	SRPK1	SO:0001583	missense	0			-	HGNC	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.955G>A	6.37:g.35838094C>T	ENSP00000362931:p.Glu319Lys	Somatic	0	52	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E319K	ENST00000373825.2	37	c.955	CCDS47415.1	6	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505955	0.26949	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.27890	1.64;1.64;1.65;1.71	5.61	4.74	0.60224	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06188	0.0160	N	0.19112	0.55	0.31235	N	0.695844	B;B	0.31435	0.323;0.156	B;B	0.21917	0.035;0.037	T	0.16394	-1.0404	9	0.08837	T	0.75	-6.7126	12.5621	0.56288	0.0:0.9233:0.0:0.0767	.	303;319	B4DS61;Q96SB4	.;SRPK1_HUMAN	K	319;335;303;212;57	ENSP00000362931:E319K;ENSP00000354674:E335K;ENSP00000391069:E303K;ENSP00000362928:E212K	ENSP00000354674:E335K	E	-	1	0	SRPK1	35946072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.246000	0.51414	1.375000	0.46248	0.555000	0.69702	GAG	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.373	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	protein_coding	OTTHUMT00000040319.3	C	NM_003137	-		35838094	-1	no_errors	ENST00000373825	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35838094	C	T	35838094	3	4	196	1	0	0	0	0	1	0	0	0	15166	922	32	2	1040	2	SRPK1	6	35838094	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	64344	35838094	135276973	879	14151	277	2									
SRPK1	6732	genome.wustl.edu	37	chr6	35838095	35838095	+	Missense_Mutation	SNP	T	T	A													attttattaggtgggttctcTttcaagggtctttcaacagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35838095T>A	ENST00000373825.2	-	10	1239	c.954A>T	c.(952-954)aaA>aaT	p.K318N	SRPK1_ENST00000373822.1_Missense_Mutation_p.K211N|SRPK1_ENST00000423325.2_Missense_Mutation_p.K302N					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GTGGGTTCTCTTTCAAGGGTC	0.378																																					NSCLC(31;67 978 16289 24856 26454)												0								ENSG00000096063						115	106	109					6																	35838095		1824	4069	5893	SRPK1	SO:0001583	missense	0			-	HGNC	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.954A>T	6.37:g.35838095T>A	ENSP00000362931:p.Lys318Asn	Somatic	0	52	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K318N	ENST00000373825.2	37	c.954	CCDS47415.1	6	.	.	.	.	.	.	.	.	.	.	T	11.86	1.764686	0.31228	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.28454	1.62;1.62;1.61;1.67	5.61	3.13	0.36017	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.29172	N	0.877099	B;B	0.11235	0.0;0.004	B;B	0.06405	0.002;0.002	T	0.30851	-0.9964	9	0.36615	T	0.2	-8.752	6.4101	0.21686	0.1385:0.0744:0.0:0.7871	.	302;318	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	318;334;302;211;56	ENSP00000362931:K318N;ENSP00000354674:K334N;ENSP00000391069:K302N;ENSP00000362928:K211N	ENSP00000354674:K334N	K	-	3	2	SRPK1	35946073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.455000	0.44988	0.971000	0.38288	0.454000	0.30748	AAA	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.378	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	protein_coding	OTTHUMT00000040319.3	T	NM_003137	-		35838095	-1	no_errors	ENST00000373825	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35838095	T	A	35838095	3	1	196	1	0	0	0	0	1	0	0	0	15166	1606	56	5	1041	5	SRPK1	6	35838095	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	35838095	135276972	880	14152	277	2									
C6orf89	221477	genome.wustl.edu	37	chr6	36870121	36870121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcatccatcacattaGgctgatgtccttgcccattg	6	14	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:36870121G>A	ENST00000480824.2	+	4	608	c.314G>A	c.(313-315)aGg>aAg	p.R105K	C6orf89_ENST00000373685.1_Missense_Mutation_p.R105K|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.R112K			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	105					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CATCACATTAGGCTGATGTCC	0.488																																																	0								ENSG00000198663						140	126	131					6																	36870121		2203	4300	6503	C6orf89	SO:0001583	missense	0			-	HGNC	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.314G>A	6.37:g.36870121G>A	ENSP00000475947:p.Arg105Lys	Somatic	0	54	0		0.52429534266604	22	31.25	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	24	48.94	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP							NULL	p.R112K	ENST00000480824.2	37	c.335		6	.	.	.	.	.	.	.	.	.	.	G	33	5.274068	0.95459	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.36520	1.25;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.53899	-0.8373	10	0.87932	D	0	-2.6286	17.9106	0.88932	0.0:0.0:1.0:0.0	.	105;112	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	K	112;105;112;111	ENSP00000347322:R112K;ENSP00000362789:R105K	ENSP00000347322:R112K	R	+	2	0	C6orf89	36978099	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.728000	0.84847	2.664000	0.90586	0.591000	0.81541	AGG	-	NULL		0.488	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	protein_coding	OTTHUMT00000040387.2	G	NM_152734	-		36870121	1	no_errors	ENST00000355190	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36870121	G	A	36870121	3	1	196	1	0	0	0	0	1	0	0	0	2375	1000	35	2	345	2	C6orf89	6	36870121	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1032026	36870121	134244946	881	14153											
DNAH8	1769	genome.wustl.edu	37	chr6	38749101	38749101	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcaggaaaaatactctgGgtgaggcagctctatcgccg	12	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:38749101G>A	ENST00000359357.3	+	14	1814	c.1560G>A	c.(1558-1560)tgG>tgA	p.W520*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W737*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W520*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	520					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATACTCTGGGTGAGGCAGC	0.373																																																	0								ENSG00000124721						68	70	69					6																	38749101		2203	4300	6503	DNAH8	SO:0001587	stop_gained	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1560G>A	6.37:g.38749101G>A	ENSP00000352312:p.Trp520*	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	42	44.30	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.W520*	ENST00000359357.3	37	c.1560		6	.	.	.	.	.	.	.	.	.	.	G	42	9.329203	0.99138	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9275	0.88988	0.0:0.0:1.0:0.0	.	.	.	.	X	725;725;520;520	.	ENSP00000333363:W725X	W	+	3	0	DNAH8	38857079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.257000	0.78362	2.674000	0.91012	0.543000	0.68304	TGG	-	pfam_Dynein_heavy_dom-1		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38749101	1	no_errors	ENST00000359357	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	38749101	G	A	38749101	4	1	196	1	0	0	0	0	0	1	0	0	4609	1241	43	2	1606	2	DNAH8	6	38749101	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1878980	38749101	132365966	882	14154											
DNAH8	1769	genome.wustl.edu	37	chr6	38835890	38835890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgtattgaggactcttgGatctcaaaaaagagccagac	10	8	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:38835890G>A	ENST00000359357.3	+	46	6349	c.6095G>A	c.(6094-6096)gGa>gAa	p.G2032E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2249E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1996E			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2032					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGACTCTTGGATCTCAAAAA	0.363																																																	0								ENSG00000124721						132	128	130					6																	38835890		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6095G>A	6.37:g.38835890G>A	ENSP00000352312:p.Gly2032Glu	Somatic	0	115	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G2032E	ENST00000359357.3	37	c.6095		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.287259|5.287259	0.95517|0.95517	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000394393|ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.|T;T;T;T	.|0.49139	.|0.79;2.29;2.29;1.07	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75796|0.75796	0.3898|0.3898	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.81189|0.81189	-0.1046|-0.1046	5|10	.|0.87932	.|D	.|0	.|.	20.2699|20.2699	0.98469|0.98469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2032	.|Q96JB1	.|DYH8_HUMAN	N|E	78|2237;2237;2032;1996	.|ENSP00000415331:G2237E;ENSP00000333363:G2237E;ENSP00000352312:G2032E;ENSP00000402294:G1996E	.|ENSP00000333363:G2237E	D|G	+|+	1|2	0|0	DNAH8|DNAH8	38943868|38943868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.775000|9.775000	0.98995|0.98995	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|GGA	-	superfamily_P-loop_NTPase		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38835890	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38835890	G	A	38835890	3	1	196	1	0	0	0	0	1	0	0	0	4609	1174	41	2	6269	2	DNAH8	6	38835890	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	86789	38835890	132279177	883	14155											
GLP1R	2740	genome.wustl.edu	37	chr6	39025329	39025329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtgaatgtcagctgccCctggtacctgccctgggcca	12	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39025329C>T	ENST00000373256.4	+	3	300	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	86					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GTCAGCTGCCCCTGGTACCTG	0.637																																																	0								ENSG00000112164						106	85	92					6																	39025329		2203	4299	6502	GLP1R	SO:0001583	missense	0			-	HGNC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.257C>T	6.37:g.39025329C>T	ENSP00000362353:p.Pro86Leu	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	94	18.97	Q2M229|Q99669	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.P86L	ENST00000373256.4	37	c.257	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395669	0.83011	.	.	ENSG00000112164	ENST00000373256	T	0.77098	-1.07	5.35	5.35	0.76521	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000007	D	0.90270	0.6957	H	0.95151	3.63	0.53688	D	0.999979	D	0.76494	0.999	D	0.83275	0.996	D	0.92688	0.6164	10	0.87932	D	0	.	14.5516	0.68070	0.0:1.0:0.0:0.0	.	86	P43220	GLP1R_HUMAN	L	86	ENSP00000362353:P86L	ENSP00000362353:P86L	P	+	2	0	GLP1R	39133307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.426000	0.59882	2.504000	0.84457	0.655000	0.94253	CCC	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.637	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	protein_coding	OTTHUMT00000040443.1	C		-		39025329	1	no_errors	ENST00000373256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39025329	C	T	39025329	3	4	196	1	0	0	0	0	1	0	0	0	6454	623	22	2	267	2	GLP1R	6	39025329	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	189439	39025329	132089738	884	14156											
KCNK5	8645	genome.wustl.edu	37	chr6	39159488	39159488	+	Silent	SNP	G	G	A													aagtagatccagagctccacGaagtagcggtacagggcgtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39159488G>A	ENST00000359534.3	-	5	1016	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	226					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGAGCTCCACGAAGTAGCGGT	0.572																																																	0								ENSG00000164626						86	96	93					6																	39159488		2203	4300	6503	KCNK5	SO:0001819	synonymous_variant	0			-	HGNC	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.678C>T	6.37:g.39159488G>A		Somatic	0	43	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	70	15.66	B2RAQ6|B5TJL2|Q5VV76	Silent	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.F226	ENST00000359534.3	37	c.678	CCDS4841.1	6																																																																																			-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TASK		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	protein_coding	OTTHUMT00000040449.1	G	NM_003740	-		39159488	-1	no_errors	ENST00000359534	ensembl	human	known	74_37	silent	SNP	0.929	A	A	39159488	G	A	39159488	2	1	196	1	0	0	0	0	0	0	0	1	8071	1049	37	1		1	KCNK5	6	39159488	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	134159	39159488	131955579	885	14157	278	2									
KCNK5	8645	genome.wustl.edu	37	chr6	39159496	39159496	+	Missense_Mutation	SNP	G	G	A													ccagagctccacgaagtagcGgtacagggcgtggtagttgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39159496G>A	ENST00000359534.3	-	5	1008	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	224					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACGAAGTAGCGGTACAGGGCG	0.562																																																	0								ENSG00000164626						85	95	92					6																	39159496		2203	4300	6503	KCNK5	SO:0001583	missense	0			-	HGNC	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.670C>T	6.37:g.39159496G>A	ENSP00000352527:p.Arg224Cys	Somatic	0	37	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	69	14.81	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.R224C	ENST00000359534.3	37	c.670	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410575	0.83340	.	.	ENSG00000164626	ENST00000359534	T	0.42131	0.98	5.57	5.57	0.84162	Ion transport 2 (1);	0.105878	0.64402	D	0.000007	T	0.42517	0.1206	M	0.89214	3.015	0.80722	D	1	P	0.39601	0.68	B	0.38842	0.283	T	0.56739	-0.7929	10	0.87932	D	0	.	14.2959	0.66314	0.0:0.0:0.8152:0.1848	.	224	O95279	KCNK5_HUMAN	C	224	ENSP00000352527:R224C	ENSP00000352527:R224C	R	-	1	0	KCNK5	39267474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	2.619000	0.88677	0.561000	0.74099	CGC	-	pfam_2pore_dom_K_chnl_dom		0.562	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	protein_coding	OTTHUMT00000040449.1	G	NM_003740	-		39159496	-1	no_errors	ENST00000359534	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39159496	G	A	39159496	3	1	196	1	0	0	0	0	1	0	0	0	8071	1116	39	1	833	1	KCNK5	6	39159496	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8	39159496	131955571	886	14158	278	2									
KCNK5	8645	genome.wustl.edu	37	chr6	39162039	39162039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcagtcaccatgaatacGaagggtgggatcaccaggtg	12	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39162039G>A	ENST00000359534.3	-	4	878	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	180					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572																																																	0								ENSG00000164626						160	127	138					6																	39162039		2203	4300	6503	KCNK5	SO:0001819	synonymous_variant	0			-	HGNC	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.540C>T	6.37:g.39162039G>A		Somatic	0	59	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	64	17.95	B2RAQ6|B5TJL2|Q5VV76	Silent	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.F180	ENST00000359534.3	37	c.540	CCDS4841.1	6																																																																																			-	pfam_2pore_dom_K_chnl_dom		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	protein_coding	OTTHUMT00000040449.1	G	NM_003740	-		39162039	-1	no_errors	ENST00000359534	ensembl	human	known	74_37	silent	SNP	0.996	A	A	39162039	G	A	39162039	2	1	196	1	0	0	0	0	0	0	0	1	8071	1049	37	1		1	KCNK5	6	39162039	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2543	39162039	131953028	887	14159											
CUL9	23113	genome.wustl.edu	37	chr6	43152478	43152478	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcacggccgctgtgcttCacaccatccacgtgctcagt	9	17	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43152478C>T	ENST00000252050.4	+	2	514	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	CUL9_ENST00000372647.2_Missense_Mutation_p.H144Y|CUL9_ENST00000354495.3_Missense_Mutation_p.H144Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	144					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						CGCTGTGCTTCACACCATCCA	0.622																																																	0								ENSG00000112659						63	61	62					6																	43152478		2203	4300	6503	CUL9	SO:0001583	missense	0			-	HGNC	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.430C>T	6.37:g.43152478C>T	ENSP00000252050:p.His144Tyr	Somatic	0	35	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP							pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.H144Y	ENST00000252050.4	37	c.430	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916845	0.33815	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.36699	1.24;1.24;1.24	3.91	3.91	0.45181	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.29908	0.895	0.24804	N	0.992682	D;D;D	0.71674	0.989;0.989;0.998	P;P;P	0.59221	0.737;0.737;0.854	T	0.03608	-1.1020	10	0.87932	D	0	-21.123	9.8848	0.41255	0.3613:0.6387:0.0:0.0	.	144;144;144	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	Y	144	ENSP00000252050:H144Y;ENSP00000346490:H144Y;ENSP00000361730:H144Y	ENSP00000252050:H144Y	H	+	1	0	CUL9	43260456	0.952000	0.32445	0.998000	0.56505	0.621000	0.37620	2.097000	0.41748	2.174000	0.68829	0.313000	0.20887	CAC	-	superfamily_ARM-type_fold		0.622	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	C	NM_015089	-		43152478	1	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	SNP	0.999	T	T	43152478	C	T	43152478	3	4	196	1	0	0	0	0	1	0	0	0	4063	826	29	2	432	2	CUL9	6	43152478	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3990439	43152478	127962589	888	14160											
TTBK1	84630	genome.wustl.edu	37	chr6	43250565	43250565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagacctctccgattaccGagaacgggcgcggttgctca	12	12	2	2	rs578249848	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43250565G>A	ENST00000259750.4	+	14	2170	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	696					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)			TCCGATTACCGAGAACGGGCG	0.622													G|||	4	0.000798722	0	0.0043	5008	,	,		18142	0.001		0	False		,,,				2504	0																0								ENSG00000146216						83	88	86					6																	43250565		2203	4300	6503	TTBK1	SO:0001583	missense	0			-	HGNC	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.2087G>A	6.37:g.43250565G>A	ENSP00000259750:p.Arg696Gln	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	37	45.59	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R696Q	ENST00000259750.4	37	c.2087	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704769	0.48412	.	.	ENSG00000146216	ENST00000259750	T	0.53423	0.62	4.12	4.12	0.48240	.	0.890080	0.09283	N	0.823520	T	0.19327	0.0464	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	B	0.44108	0.441	T	0.04320	-1.0960	10	0.17832	T	0.49	.	9.0961	0.36640	0.1058:0.0:0.8942:0.0	.	696	Q5TCY1	TTBK1_HUMAN	Q	696	ENSP00000259750:R696Q	ENSP00000259750:R696Q	R	+	2	0	TTBK1	43358543	0.998000	0.40836	0.992000	0.48379	0.976000	0.68499	4.641000	0.61375	1.835000	0.53391	0.555000	0.69702	CGA	-	NULL		0.622	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	protein_coding	OTTHUMT00000040584.3	G		-		43250565	1	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	SNP	0.996	A	A	43250565	G	A	43250565	3	1	196	1	0	0	0	0	1	0	0	0	16683	1058	37	1	2137	1	TTBK1	6	43250565	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	98087	43250565	127864502	889	14161											
ZNF318	24149	genome.wustl.edu	37	chr6	43305569	43305569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaagtcagcgggatcggagGaattacaccctataggtgat	13	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43305569G>A	ENST00000361428.2	-	10	6244	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2056					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCGGAGGAATTACACCC	0.463																																																	0								ENSG00000171467						91	83	86					6																	43305569		2203	4300	6503	ZNF318	SO:0001583	missense	0			-	HGNC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6167C>T	6.37:g.43305569G>A	ENSP00000354964:p.Ser2056Phe	Somatic	0	104	0		0.52429534266604	9	43.75	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	57	41.24	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP							smart_Znf_U1	p.S2056F	ENST00000361428.2	37	c.6167	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	G	3.156	-0.173138	0.06421	.	.	ENSG00000171467	ENST00000361428	T	0.15017	2.46	5.0	5.0	0.66597	.	1.135150	0.06479	N	0.732506	T	0.04907	0.0132	N	0.14661	0.345	0.27684	N	0.946331	P	0.40834	0.73	B	0.34242	0.178	T	0.11494	-1.0585	10	0.87932	D	0	0.2599	11.7092	0.51616	0.0:0.0:0.8234:0.1766	.	2056	Q5VUA4	ZN318_HUMAN	F	2056	ENSP00000354964:S2056F	ENSP00000354964:S2056F	S	-	2	0	ZNF318	43413547	0.003000	0.15002	0.435000	0.26784	0.010000	0.07245	1.065000	0.30592	2.709000	0.92574	0.655000	0.94253	TCC	-	NULL		0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	protein_coding	OTTHUMT00000040601.2	G	NM_014345	-		43305569	-1	no_errors	ENST00000361428	ensembl	human	known	74_37	missense	SNP	0.170	A	A	43305569	G	A	43305569	3	1	196	1	0	0	0	0	1	0	0	0	17843	1174	41	2	676	2	ZNF318	6	43305569	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	55004	43305569	127809498	890	14162											
TJAP1	93643	genome.wustl.edu	37	chr6	43472881	43472881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctacccaaccccgtctcCaccacacccactgtatcctg	3	23	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43472881C>T	ENST00000372445.5	+	11	1338	c.962C>T	c.(961-963)cCa>cTa	p.P321L	TJAP1_ENST00000372452.1_Missense_Mutation_p.P311L|TJAP1_ENST00000372444.2_Missense_Mutation_p.P311L|TJAP1_ENST00000259751.1_Missense_Mutation_p.P311L|TJAP1_ENST00000372449.1_Missense_Mutation_p.P321L|TJAP1_ENST00000438588.2_Missense_Mutation_p.P321L|TJAP1_ENST00000436109.2_Missense_Mutation_p.P311L|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	321	Pro-rich.				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)			ACCCCGTCTCCACCACACCCA	0.612																																																	0								ENSG00000137221						71	80	77					6																	43472881		2203	4300	6503	TJAP1	SO:0001583	missense	0			-	HGNC	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.962C>T	6.37:g.43472881C>T	ENSP00000361522:p.Pro321Leu	Somatic	0	57	0		0.52429534266604	24	45.45	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	50	41.86	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP							NULL	p.P321L	ENST00000372445.5	37	c.962	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999408	0.54147	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.81	4.95	0.65309	.	0.095705	0.64402	N	0.000001	T	0.52025	0.1709	M	0.73962	2.25	0.80722	D	1	B;B	0.26258	0.145;0.145	B;B	0.27887	0.084;0.084	T	0.60637	-0.7224	9	0.87932	D	0	-8.7542	14.6717	0.68948	0.0:0.9306:0.0:0.0694	.	321;311	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	L	311;321;311;311;311;311;321;321	.	ENSP00000259751:P311L	P	+	2	0	TJAP1	43580859	0.960000	0.32886	0.804000	0.32291	0.971000	0.66376	3.604000	0.54081	1.457000	0.47850	0.655000	0.94253	CCA	-	NULL		0.612	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	protein_coding	OTTHUMT00000040629.1	C	NM_080604	-		43472881	1	no_errors	ENST00000372445	ensembl	human	known	74_37	missense	SNP	0.977	T	T	43472881	C	T	43472881	3	4	196	1	0	0	0	0	1	0	0	0	15935	594	21	2	992	2	TJAP1	6	43472881	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	167312	43472881	127642186	891	14163											
CAPN11	11131	genome.wustl.edu	37	chr6	44137153	44137153	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcgagcagcctgtctaaGaaagggggagctcttcgagg	16	9	2	1	rs190216536|rs70993433		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:44137153G>A	ENST00000398776.1	+	3	262	c.224G>A	c.(223-225)aGa>aAa	p.R75K	CAPN11_ENST00000542245.1_Missense_Mutation_p.R75K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	75					proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCTGTCTAAGAAAGGGGGAG	0.567																																																	0								ENSG00000137225						34	37	36					6																	44137153		1888	4129	6017	CAPN11	SO:0001583	missense	0			GMAF=0.0005	HGNC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.224G>A	6.37:g.44137153G>A	ENSP00000381758:p.Arg75Lys	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R75K	ENST00000398776.1	37	c.224	CCDS47436.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.278	0.608559	0.14002	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	T;T;T	0.49432	0.78;0.78;0.78	4.1	-0.0274	0.13927	Peptidase C2, calpain, catalytic domain (1);	0.672928	0.13610	N	0.375174	T	0.11410	0.0278	N	0.21282	0.65	0.19945	N	0.999948	B	0.06786	0.001	B	0.04013	0.001	T	0.27806	-1.0063	10	0.36615	T	0.2	.	5.2688	0.15613	0.546:0.1611:0.2929:0.0	.	75	Q9UMQ6	CAN11_HUMAN	K	75;75;105	ENSP00000381758:R75K;ENSP00000441078:R75K;ENSP00000432420:R105K	ENSP00000381758:R75K	R	+	2	0	CAPN11	44245131	0.936000	0.31750	0.010000	0.14722	0.052000	0.14988	0.824000	0.27379	-0.021000	0.14009	-0.145000	0.13849	AGA	-	smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.567	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	protein_coding	OTTHUMT00000040714.3	G		rs190216536		44137153	1	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	SNP	0.405	A	A	44137153	G	A	44137153	3	1	196	1	0	0	0	0	1	0	0	0	2626	942	33	2	234	2	CAPN11	6	44137153	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	664272	44137153	126977914	892	14164											
CDC5L	988	genome.wustl.edu	37	chr6	44394440	44394440	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cataatccttatgaaaagttCtccaaagaagagctgaaaaa	6	7	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:44394440C>T	ENST00000371477.3	+	13	2171	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	624	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGAAAAGTTCTCCAAAGAAG	0.348																																																	0								ENSG00000096401						81	81	81					6																	44394440		2203	4298	6501	CDC5L	SO:0001819	synonymous_variant	0			-	HGNC	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1872C>T	6.37:g.44394440C>T		Somatic	0	60	0		0.52429534266604	52	10.34	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	56	25.33	Q76N46|Q99974	Silent	SNP							pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.F624	ENST00000371477.3	37	c.1872	CCDS4912.1	6																																																																																			-	pfam_DUF3351		0.348	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	protein_coding	OTTHUMT00000040743.1	C		-		44394440	1	no_errors	ENST00000371477	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44394440	C	T	44394440	2	4	196	1	0	0	0	0	0	0	0	1	3084	912	32	2		2	CDC5L	6	44394440	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	257287	44394440	126720627	893	14165											
GPR110	266977	genome.wustl.edu	37	chr6	46977164	46977164	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcatccagaagaacaaagaGaggtagaagaagtgtgtaaa	12	4	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:46977164G>A	ENST00000371253.2	-	11	2222	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.L472L	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	669					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAACAAAGAGAGGTAGAAGA	0.498																																																	0								ENSG00000153292						89	78	82					6																	46977164		2203	4300	6503	GPR110	SO:0001819	synonymous_variant	0			-	HGNC	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2007C>T	6.37:g.46977164G>A		Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.L669	ENST00000371253.2	37	c.2007	CCDS34471.1	6																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	protein_coding	OTTHUMT00000040810.2	G	NM_153840	-		46977164	-1	no_errors	ENST00000371253	ensembl	human	known	74_37	silent	SNP	0.867	A	A	46977164	G	A	46977164	2	1	196	1	0	0	0	0	0	0	0	1	6629	929	33	2		2	GPR110	6	46977164	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2582724	46977164	124137903	894	14166											
TFAP2D	83741	genome.wustl.edu	37	chr6	50718997	50718997	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctccagacccactccaAttctagaccttgacatccag	5	16	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:50718997A>C	ENST00000008391.3	+	7	1327	c.1099A>C	c.(1099-1101)Att>Ctt	p.I367L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.I367V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACCCACTCCAATTCTAGACCT	0.368																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000008197						105	96	99					6																	50718997		2203	4299	6502	TFAP2D	SO:0001583	missense	0			-	HGNC	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1099A>C	6.37:g.50718997A>C	ENSP00000008391:p.Ile367Leu	Somatic	0	101	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	74	13.95		Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C	p.I367L	ENST00000008391.3	37	c.1099	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589385	0.66105	.	.	ENSG00000008197	ENST00000008391	D	0.96554	-4.05	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	L	0.41824	1.3	0.58432	D	0.999999	B	0.28400	0.21	B	0.33960	0.173	D	0.91151	0.4953	10	0.44086	T	0.13	-0.2816	15.5691	0.76320	1.0:0.0:0.0:0.0	.	367	Q7Z6R9	AP2D_HUMAN	L	367	ENSP00000008391:I367L	ENSP00000008391:I367L	I	+	1	0	TFAP2D	50826956	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.576000	0.82467	2.081000	0.62600	0.397000	0.26171	ATT	-	pfam_TF_AP2_C		0.368	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	protein_coding	OTTHUMT00000040881.1	A	NM_172238	-		50718997	1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50718997	A	C	50718997	3	2	196	1	0	0	0	0	1	0	0	0	15797	101	4	5	1125	5	TFAP2D	6	50718997	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	3741833	50718997	120396070	895	14167											
TFAP2B	7021	genome.wustl.edu	37	chr6	50810895	50810895	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatcctggagccggggatCcagagctgcctcacgcactt	11	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:50810895C>T	ENST00000393655.3	+	7	1342	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	TFAP2B_ENST00000263046.4_Silent_p.I400I	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	391				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGGGGATCCAGAGCTGCC	0.632																																					Pancreas(116;1373 2332 5475 10752)												0								ENSG00000008196						66	74	71					6																	50810895		2203	4300	6503	TFAP2B	SO:0001819	synonymous_variant	0			-	HGNC	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1173C>T	6.37:g.50810895C>T		Somatic	0	47	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	44	26.67	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP							pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.I400	ENST00000393655.3	37	c.1200	CCDS4934.2	6																																																																																			-	pfam_TF_AP2_C		0.632	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	protein_coding	OTTHUMT00000040886.3	C	NM_003221	-		50810895	1	no_errors	ENST00000263046	ensembl	human	known	74_37	silent	SNP	0.999	T	T	50810895	C	T	50810895	2	4	196	1	0	0	0	0	0	0	0	1	15795	845	30	2		2	TFAP2B	6	50810895	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	91898	50810895	120304172	896	14168											
PKHD1	5314	genome.wustl.edu	37	chr6	51890774	51890774	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggtgaaggaccacgggcGaagaacctgttgccagccca	13	12	0	2	rs145960781		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:51890774G>A	ENST00000371117.3	-	32	4109	c.3834C>T	c.(3832-3834)ttC>ttT	p.F1278F	PKHD1_ENST00000340994.4_Silent_p.F1278F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1278	IPT/TIG 7.				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)					GACCACGGGCGAAGAACCTGT	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		18832	0		0	False		,,,				2504	0																0								ENSG00000170927	G	,	16,4390	24.3+/-50.5	1,14,2188	70	64	66		3834,3834	1.9	0	6	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	1,14,6488	AA,AG,GG		0.0,0.3631,0.123	,	1278/4075,1278/3397	51890774	16,12990	2203	4300	6503	PKHD1	SO:0001819	synonymous_variant	0			-	HGNC	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.3834C>T	6.37:g.51890774G>A		Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.F1278	ENST00000371117.3	37	c.3834	CCDS4935.1	6																																																																																			-	superfamily_Ig_E-set,smart_IPT		0.587	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	rs145960781		51890774	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	SNP	0.000	A	A	51890774	G	A	51890774	2	1	196	1	0	0	0	0	0	0	0	1	11973	1049	37	1		1	PKHD1	6	51890774	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1079879	51890774	119224293	897	14169											
TINAG	27283	genome.wustl.edu	37	chr6	54185424	54185424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagggatcagtaattaaaGaaaactgcaactcctggtaa	9	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:54185424G>A	ENST00000259782.4	+	2	499	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.E117K|TINAG_ENST00000370869.3_Missense_Mutation_p.E131K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	135					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGTAATTAAAGAAAACTGCAA	0.318																																																	0								ENSG00000137251						128	137	134					6																	54185424		2203	4298	6501	TINAG	SO:0001583	missense	0			-	HGNC	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.403G>A	6.37:g.54185424G>A	ENSP00000259782:p.Glu135Lys	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	77	13.33	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP							pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.E135K	ENST00000259782.4	37	c.403	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155732	0.57259	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	T;T;T	0.65364	-0.15;-0.15;-0.15	5.5	5.5	0.81552	.	0.169650	0.41823	N	0.000819	T	0.49133	0.1539	L	0.45698	1.435	0.31148	N	0.70588	P;D	0.53151	0.546;0.958	B;P	0.47528	0.161;0.549	T	0.50625	-0.8806	10	0.34782	T	0.22	.	14.8827	0.70545	0.0:0.0:1.0:0.0	.	135;135	Q9UJW2;Q7Z477	TINAG_HUMAN;.	K	131;135;117	ENSP00000359906:E131K;ENSP00000259782:E135K;ENSP00000359901:E117K	ENSP00000259782:E135K	E	+	1	0	TINAG	54293383	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.896000	0.56266	2.568000	0.86640	0.563000	0.77884	GAA	-	NULL		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	protein_coding	OTTHUMT00000040984.1	G	NM_014464	-		54185424	1	no_errors	ENST00000259782	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54185424	G	A	54185424	3	1	196	1	0	0	0	0	1	0	0	0	15928	943	33	2	409	2	TINAG	6	54185424	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2294650	54185424	116929643	898	14170											
HCRTR2	3062	genome.wustl.edu	37	chr6	55147026	55147026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctctctgtttgccaggaaAatttcgagaggaatttaaag	9	6	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:55147026A>T	ENST00000370862.3	+	7	1445	c.1109A>T	c.(1108-1110)aAa>aTa	p.K370I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	370					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGCCAGGAAAATTTCGAGAG	0.443																																																	0								ENSG00000137252						44	47	46					6																	55147026		2203	4300	6503	HCRTR2	SO:0001583	missense	0			-	HGNC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1109A>T	6.37:g.55147026A>T	ENSP00000359899:p.Lys370Ile	Somatic	0	57	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	Q5VTM0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.K370I	ENST00000370862.3	37	c.1109	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651234	0.88056	.	.	ENSG00000137252	ENST00000370862	T	0.39787	1.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.79343	2.45	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.65772	-0.6087	10	0.87932	D	0	.	15.6204	0.76802	1.0:0.0:0.0:0.0	.	370	O43614	OX2R_HUMAN	I	370	ENSP00000359899:K370I	ENSP00000359899:K370I	K	+	2	0	HCRTR2	55254985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.328000	0.90014	2.090000	0.63153	0.528000	0.53228	AAA	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.443	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	protein_coding	OTTHUMT00000043392.1	A		-		55147026	1	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55147026	A	T	55147026	3	4	196	1	0	0	0	0	1	0	0	0	7004	14	1	5	1135	5	HCRTR2	6	55147026	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	961602	55147026	115968041	899	14171											
BMP5	653	genome.wustl.edu	37	chr6	55739214	55739214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accatgtcagcatcattcagAaagttggtatcatggaggct	10	8	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:55739214A>C	ENST00000370830.3	-	1	1148	c.450T>G	c.(448-450)ttT>ttG	p.F150L	BMP5_ENST00000446683.2_Missense_Mutation_p.F150L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	150					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)			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)			CATCATTCAGAAAGTTGGTAT	0.448																																																	0								ENSG00000112175						109	102	105					6																	55739214		2203	4300	6503	BMP5	SO:0001583	missense	0			-	HGNC		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.450T>G	6.37:g.55739214A>C	ENSP00000359866:p.Phe150Leu	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.F150L	ENST00000370830.3	37	c.450	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517224	0.44763	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71579	-0.58;-0.26	5.96	4.81	0.61882	Transforming growth factor-beta, N-terminal (1);	0.047461	0.85682	D	0.000000	T	0.58935	0.2157	L	0.59912	1.85	0.58432	D	0.999994	P;B	0.39551	0.678;0.432	P;B	0.44696	0.458;0.344	T	0.63825	-0.6549	10	0.54805	T	0.06	.	9.0464	0.36349	0.8599:0.0:0.1401:0.0	.	150;150	B4E0Y4;P22003	.;BMP5_HUMAN	L	150	ENSP00000359866:F150L;ENSP00000391818:F150L	ENSP00000359866:F150L	F	-	3	2	BMP5	55847173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.652000	0.54439	1.088000	0.41272	0.528000	0.53228	TTT	-	pfam_TGF-b_N		0.448	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	protein_coding	OTTHUMT00000041000.1	A		-		55739214	-1	no_errors	ENST00000370830	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55739214	A	C	55739214	3	2	196	1	0	0	0	0	1	0	0	0	1463	243	9	5	942	5	BMP5	6	55739214	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	592188	55739214	115375853	900	14172											
DST	667	genome.wustl.edu	37	chr6	56480985	56480985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcagcaagttctgtaAgtgtgatgaggccttcctga	11	7	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:56480985A>G	ENST00000370765.6	-	24	7387	c.7280T>C	c.(7279-7281)cTt>cCt	p.L2427P	DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1728	Asp-rich.				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)			AAGTTCTGTAAGTGTGATGAG	0.438																																																	0								ENSG00000151914						94	87	89					6																	56480985		2203	4300	6503	DST	SO:0001583	missense	0			-	HGNC	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.7280T>C	6.37:g.56480985A>G	ENSP00000359801:p.Leu2427Pro	Somatic	0	47	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	61	22.78	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							pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L2427P	ENST00000370765.6	37	c.7280	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	A	8.768	0.925228	0.18056	.	.	ENSG00000151914	ENST00000370765	T	0.69685	-0.42	5.72	4.37	0.52481	.	.	.	.	.	T	0.38746	0.1052	.	.	.	0.24573	N	0.993914	B	0.09022	0.002	B	0.12156	0.007	T	0.41556	-0.9502	7	0.72032	D	0.01	.	7.5054	0.27542	0.7731:0.0:0.2269:0.0	.	2427	Q03001-3	.	P	2427	ENSP00000359801:L2427P	ENSP00000359801:L2427P	L	-	2	0	DST	56588944	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	1.334000	0.33827	2.184000	0.69523	0.528000	0.53228	CTT	-	NULL		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041027.2	A	NM_001723	-		56480985	-1	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	SNP	0.807	G	G	56480985	A	G	56480985	3	3	196	1	0	0	0	0	1	0	0	0	4785	72	3	5	13119	5	DST	6	56480985	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	741771	56480985	114634082	901	14173											
PHF3	23469	genome.wustl.edu	37	chr6	64408446	64408446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagatgctaaatataAgaacaaatatagaagtttga	8	4	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:64408446A>G	ENST00000262043.3	+	8	3273	c.2933A>G	c.(2932-2934)aAg>aGg	p.K978R	PHF3_ENST00000393387.1_Missense_Mutation_p.K978R			Q92576	PHF3_HUMAN	PHD finger protein 3	978	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTAAATATAAGAACAAATAT	0.323																																					GBM(135;136 1820 29512 34071 46235)												0								ENSG00000118482						37	45	42					6																	64408446		2196	4291	6487	PHF3	SO:0001583	missense	0			-	HGNC	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2933A>G	6.37:g.64408446A>G	ENSP00000262043:p.Lys978Arg	Somatic	0	106	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	65	41.96	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP							pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.K978R	ENST00000262043.3	37	c.2933	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696123	0.68386	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.49	5.49	0.81192	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.41605	D	0.000849	T	0.54319	0.1851	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.56074	-0.8039	10	0.49607	T	0.09	-17.1035	15.8791	0.79189	1.0:0.0:0.0:0.0	.	978	Q92576	PHF3_HUMAN	R	792;247;978;978	ENSP00000424694:K792R;ENSP00000425338:K247R;ENSP00000262043:K978R;ENSP00000377048:K978R	ENSP00000262043:K978R	K	+	2	0	PHF3	64466405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.229000	0.95273	2.213000	0.71641	0.397000	0.26171	AAG	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M		0.323	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	protein_coding	OTTHUMT00000041086.2	A		-		64408446	1	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	SNP	1.000	G	G	64408446	A	G	64408446	3	3	196	1	0	0	0	0	1	0	0	0	11838	72	3	5	2959	5	PHF3	6	64408446	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	7927461	64408446	106706621	902	14174											
EYS	346007	genome.wustl.edu	37	chr6	64694463	64694463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaatttgaacatttgcagGaatatggccaaggaacattg	10	5	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:64694463G>A	ENST00000370621.3	-	35	7394	c.6868C>T	c.(6868-6870)Cct>Tct	p.P2290S	EYS_ENST00000503581.1_Missense_Mutation_p.P2290S|EYS_ENST00000370616.2_Missense_Mutation_p.P2290S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2290	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACATTTGCAGGAATATGGCCA	0.348																																																	0								ENSG00000188107						146	127	132					6																	64694463		692	1590	2282	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6868C>T	6.37:g.64694463G>A	ENSP00000359655:p.Pro2290Ser	Somatic	0	103	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	85	11.46	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P2290S	ENST00000370621.3	37	c.6868		6	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275532	0.10403	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.81821	-1.54;-1.54;-1.54	5.38	1.58	0.23477	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.40145	0.1105	N	0.24115	0.695	0.28627	N	0.907859	P;P	0.42908	0.753;0.793	B;B	0.39562	0.303;0.268	T	0.34850	-0.9812	9	0.09338	T	0.73	.	5.1192	0.14851	0.2266:0.0:0.6287:0.1447	.	2290;2290	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	S	2290	ENSP00000424243:P2290S;ENSP00000359655:P2290S;ENSP00000359650:P2290S	ENSP00000359650:P2290S	P	-	1	0	EYS	64752422	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	2.961000	0.49168	0.007000	0.14760	-0.182000	0.12963	CCT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.348	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	G	XM_294050	-		64694463	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.034	A	A	64694463	G	A	64694463	3	1	196	1	0	0	0	0	1	0	0	0	5334	1174	41	2	2602	2	EYS	6	64694463	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	286017	64694463	106420604	903	14175											
EYS	346007	genome.wustl.edu	37	chr6	65327426	65327426	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagtggtgtccagaccatCctgttcaacaaaattacaaa	6	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:65327426C>T	ENST00000370621.3	-	24	4095	c.3569G>A	c.(3568-3570)gGa>gAa	p.G1190E	EYS_ENST00000503581.1_Splice_Site_p.G1190E|EYS_ENST00000370616.2_Splice_Site_p.G1190E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1190	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCAGACCATCCTGTTCAACA	0.353																																																	0								ENSG00000188107						84	66	71					6																	65327426		692	1591	2283	EYS	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3569-1G>A	6.37:g.65327426C>T		Somatic	0	87	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	66	15.38	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G1190E	ENST00000370621.3	37	c.3569		6	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468710	0.63625	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.98135	-4.74;-4.74;-4.74	4.71	3.83	0.44106	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98473	0.9491	M	0.93375	3.41	0.25253	N	0.989655	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94991	0.8134	9	0.66056	D	0.02	.	8.1235	0.30984	0.0:0.8876:0.0:0.1124	.	1190;1190	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	E	1190	ENSP00000424243:G1190E;ENSP00000359655:G1190E;ENSP00000359650:G1190E	ENSP00000359650:G1190E	G	-	2	0	EYS	65384147	0.005000	0.15991	0.122000	0.21767	0.479000	0.33129	1.562000	0.36353	1.315000	0.45114	0.591000	0.81541	GGA	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-	Missense_Mutation	65327426	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.281	T	T	65327426	C	T	65327426	5	4	196	1	0	0	0	0	0	0	1	0	5334	869	30	2	5790	2	EYS	6	65327426	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	632963	65327426	105787641	904	14176											
BAI3	577	genome.wustl.edu	37	chr6	69665971	69665971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgctcagtaacgtgctcGaatgggactcagcagagaag	13	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:69665971G>A	ENST00000370598.1	+	7	2072	c.1251G>A	c.(1249-1251)tcG>tcA	p.S417S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	417	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAACGTGCTCGAATGGGACTC	0.537																																																	0								ENSG00000135298						91	80	84					6																	69665971		2203	4300	6503	BAI3	SO:0001819	synonymous_variant	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1251G>A	6.37:g.69665971G>A		Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S417	ENST00000370598.1	37	c.1251	CCDS4968.1	6																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.537	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	G		-		69665971	1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	SNP	0.399	A	A	69665971	G	A	69665971	2	1	196	1	0	0	0	0	0	0	0	1	1300	1045	37	1		1	BAI3	6	69665971	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4338545	69665971	101449096	905	14177											
BAI3	577	genome.wustl.edu	37	chr6	69684677	69684677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttatgaaatatgccctgaGgattatctgatgtcgatggt	10	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:69684677G>A	ENST00000370598.1	+	9	2369	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	516					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATGCCCTGAGGATTATCTGA	0.423																																																	0								ENSG00000135298						108	104	105					6																	69684677		2203	4300	6503	BAI3	SO:0001819	synonymous_variant	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1548G>A	6.37:g.69684677G>A		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	59	10.61	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E516	ENST00000370598.1	37	c.1548	CCDS4968.1	6																																																																																			-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	G		-		69684677	1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	SNP	1.000	A	A	69684677	G	A	69684677	2	1	196	1	0	0	0	0	0	0	0	1	1300	991	35	2		2	BAI3	6	69684677	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	18706	69684677	101430390	906	14178											
BAI3	577	genome.wustl.edu	37	chr6	69949033	69949033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtacatacgctctgagaGatccataatactaattaact	6	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:69949033G>A	ENST00000370598.1	+	20	3550	c.2729G>A	c.(2728-2730)aGa>aAa	p.R910K	BAI3_ENST00000238918.8_Missense_Mutation_p.R116K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	910					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGCTCTGAGAGATCCATAATA	0.368																																																	0								ENSG00000135298						187	181	183					6																	69949033		2203	4298	6501	BAI3	SO:0001583	missense	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2729G>A	6.37:g.69949033G>A	ENSP00000359630:p.Arg910Lys	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R910K	ENST00000370598.1	37	c.2729	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771855	0.90108	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55588	0.51;1.22	5.26	4.39	0.52855	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.81942	2.565	0.80722	D	1	B;P;D	0.76494	0.0;0.92;0.999	B;D;D	0.80764	0.001;0.92;0.994	T	0.72896	-0.4153	10	0.72032	D	0.01	.	13.8407	0.63437	0.0739:0.0:0.9261:0.0	.	116;910;910	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	K	910;116	ENSP00000359630:R910K;ENSP00000238918:R116K	ENSP00000238918:R116K	R	+	2	0	BAI3	70005754	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.869000	0.99810	1.209000	0.43321	0.655000	0.94253	AGA	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	G		-		69949033	1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69949033	G	A	69949033	3	1	196	1	0	0	0	0	1	0	0	0	1300	942	33	2	2799	2	BAI3	6	69949033	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	264356	69949033	101166034	907	14179											
COL9A1	1297	genome.wustl.edu	37	chr6	70935701	70935701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggccacgctcccccttttCtcccaagtcacctgcattac	6	18	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:70935701C>T	ENST00000357250.6	-	37	2673	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	COL9A1_ENST00000320755.7_Missense_Mutation_p.E596K|COL9A1_ENST00000370499.4_Missense_Mutation_p.E596K|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	839	Collagen-like 9.|Triple-helical region (COL1).				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)			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						TCCCCCTTTTCTCCCAAGTCA	0.423																																																	0								ENSG00000112280						68	65	66					6																	70935701		2203	4300	6503	COL9A1	SO:0001583	missense	0			-	HGNC		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.2515G>A	6.37:g.70935701C>T	ENSP00000349790:p.Glu839Lys	Somatic	0	67	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.19	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E839K	ENST00000357250.6	37	c.2515	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258845	0.80246	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.96587	-4.06;-4.06;-4.06	5.43	5.43	0.79202	.	0.134805	0.64402	D	0.000002	D	0.96873	0.8979	M	0.73372	2.23	0.80722	D	1	D;P;P	0.55800	0.973;0.948;0.674	P;P;B	0.58928	0.848;0.648;0.386	D	0.95330	0.8429	10	0.23891	T	0.37	.	19.2294	0.93831	0.0:1.0:0.0:0.0	.	839;596;388	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	K	839;596;596	ENSP00000349790:E839K;ENSP00000315252:E596K;ENSP00000359530:E596K	ENSP00000315252:E596K	E	-	1	0	COL9A1	70992422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.557000	0.86248	0.591000	0.81541	GAA	-	pfam_Collagen		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	protein_coding	OTTHUMT00000041131.2	C		-		70935701	-1	no_errors	ENST00000357250	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70935701	C	T	70935701	3	4	196	1	0	0	0	0	1	0	0	0	3709	922	32	2	258	2	COL9A1	6	70935701	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	986668	70935701	100179366	908	14180											
C6orf221	154288	genome.wustl.edu	37	chr6	74072498	74072498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgtgcaactgatgcagCcaaaagcaatgccagtggag	12	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:74072498C>T	ENST00000370367.3	+	1	99	c.46C>T	c.(46-48)Cca>Tca	p.P16S		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	16							RNA binding (GO:0003723)										ACTGATGCAGCCAAAAGCAAT	0.592																																																	0								ENSG00000203908						82	75	77					6																	74072498		2203	4300	6503	KHDC3L	SO:0001583	missense	0			-	HGNC	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.46C>T	6.37:g.74072498C>T	ENSP00000359392:p.Pro16Ser	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92	B2RNW7	Missense_Mutation	SNP							NULL	p.P16S	ENST00000370367.3	37	c.46	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	C	9.939	1.216916	0.22373	.	.	ENSG00000203908	ENST00000370367	T	0.45276	0.9	3.53	-0.629	0.11533	.	0.808890	0.10176	N	0.706487	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.26770	0.073	T	0.33111	-0.9881	10	0.52906	T	0.07	-1.7698	6.0706	0.19887	0.3523:0.2992:0.3485:0.0	.	16	Q587J8	ECAT1_HUMAN	S	16	ENSP00000359392:P16S	ENSP00000359392:P16S	P	+	1	0	C6orf221	74129219	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.593000	0.05740	-0.143000	0.11334	0.561000	0.74099	CCA	-	NULL		0.592	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	protein_coding	OTTHUMT00000041202.3	C	NM_001017361	-		74072498	1	no_errors	ENST00000370367	ensembl	human	known	74_37	missense	SNP	0.002	T	T	74072498	C	T	74072498	3	4	196	1	0	0	0	0	1	0	0	0	2357	739	26	2	48	2	C6orf221	6	74072498	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3136797	74072498	97042569	909	14181											
CD109	135228	genome.wustl.edu	37	chr6	74498282	74498282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgaaaactttgagtttctCatttcctcctaatacagtga	5	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:74498282C>T	ENST00000287097.5	+	22	2760	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L	CD109_ENST00000437994.2_Missense_Mutation_p.S883L|CD109_ENST00000422508.2_Missense_Mutation_p.S806L			Q6YHK3	CD109_HUMAN	CD109 molecule	883					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						TTGAGTTTCTCATTTCCTCCT	0.353																																																	0								ENSG00000156535						85	86	86					6																	74498282		2203	4300	6503	CD109	SO:0001583	missense	0			-	HGNC	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.2648C>T	6.37:g.74498282C>T	ENSP00000287097:p.Ser883Leu	Somatic	0	37	0		0.52429534266604	20	13.04	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S883L	ENST00000287097.5	37	c.2648	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375049	0.82682	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.25085	1.84;2.04;1.82	5.22	5.22	0.72569	.	0.332930	0.30260	N	0.010037	T	0.19366	0.0465	L	0.35644	1.08	0.42333	D	0.992304	P;B;B	0.50443	0.935;0.057;0.054	P;B;B	0.45681	0.49;0.072;0.027	T	0.01363	-1.1374	10	0.59425	D	0.04	.	18.974	0.92728	0.0:1.0:0.0:0.0	.	806;883;883	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	L	883;806;883	ENSP00000388062:S883L;ENSP00000404475:S806L;ENSP00000287097:S883L	ENSP00000287097:S883L	S	+	2	0	CD109	74555003	0.995000	0.38212	0.987000	0.45799	0.956000	0.61745	3.412000	0.52679	2.713000	0.92767	0.655000	0.94253	TCA	-	NULL		0.353	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	protein_coding	OTTHUMT00000041230.3	C	NM_133493	-		74498282	1	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	SNP	0.995	T	T	74498282	C	T	74498282	3	4	196	1	0	0	0	0	1	0	0	0	2965	838	29	2	2734	2	CD109	6	74498282	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	425784	74498282	96616785	910	14182											
COL12A1	1303	genome.wustl.edu	37	chr6	75884929	75884929	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccactggggtatatgtgacGagatactgtttcacttttcc	10	9	1	2	rs372378385		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:75884929G>A	ENST00000322507.8	-	13	2844	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	COL12A1_ENST00000483888.2_Silent_p.L845L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.L845L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	845	Fibronectin type-III 5. {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						TATATGTGACGAGATACTGTT	0.473																																																	0								ENSG00000111799	G	,	0,3792		0,0,1896	194	186	189		2535,	-11.6	0	6		189	1,8221		0,1,4110	no	coding-synonymous,intron	COL12A1	NM_004370.5,NM_080645.2	,	0,1,6006	AA,AG,GG		0.0122,0.0,0.0083	,	845/3064,	75884929	1,12013	1896	4111	6007	COL12A1	SO:0001819	synonymous_variant	0			-	HGNC	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.2535C>T	6.37:g.75884929G>A		Somatic	0	63	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	54	26.03	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L845	ENST00000322507.8	37	c.2535	CCDS43482.1	6																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	G	NM_004370	-		75884929	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	silent	SNP	0.002	A	A	75884929	G	A	75884929	2	1	196	1	0	0	0	0	0	0	0	1	3671	1045	37	1		1	COL12A1	6	75884929	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1386647	75884929	95230138	911	14183											
PHIP	55023	genome.wustl.edu	37	chr6	79707142	79707142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttacctggctacaccAgctgatagctcgggtactac	8	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:79707142A>G	ENST00000275034.4	-	19	2357	c.2190T>C	c.(2188-2190)gcT>gcC	p.A730A		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	730					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)		TGGCTACACCAGCTGATAGCT	0.468																																																	0								ENSG00000146247						153	135	141					6																	79707142		2203	4300	6503	PHIP	SO:0001819	synonymous_variant	0			-	HGNC	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.2190T>C	6.37:g.79707142A>G		Somatic	0	28	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP							pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.A730	ENST00000275034.4	37	c.2190	CCDS4987.1	6																																																																																			-	NULL		0.468	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	A		-		79707142	-1	no_errors	ENST00000275034	ensembl	human	known	74_37	silent	SNP	0.926	G	G	79707142	A	G	79707142	2	3	196	1	0	0	0	0	0	0	0	1	11844	175	7	5		5	PHIP	6	79707142	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	3822213	79707142	91407925	912	14184											
DOPEY1	23033	genome.wustl.edu	37	chr6	83832631	83832633	+	In_Frame_Del	DEL	CTT	CTT	-													agctgattaaaactgctaacCttctctttaattccttcgaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:83832631_83832633delCTT	ENST00000349129.2	+	12	1530_1532	c.1270_1272delCTT	c.(1270-1272)cttdel	p.L425del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.L416del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.L416del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	425					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTGCTAACCTTCTCTTTAATT	0.281																																																	0								ENSG00000083097		,	222,4034		110,2,2016					,	1.6	1			105	563,7675		277,9,3833	no	coding,coding	DOPEY1	NM_015018.3,NM_001199942.1	,	387,11,5849	A1A1,A1R,RR		6.8342,5.2162,6.283	,	,		785,11709				DOPEY1	SO:0001651	inframe_deletion	0				HGNC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1270_1272delCTT	6.37:g.83832631_83832633delCTT	ENSP00000195654:p.Leu425del	Somatic	0	135	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	56	45.63	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	In_Frame_Del	DEL							pfam_Dopey_N,superfamily_ARM-type_fold	p.L425in_frame_del	ENST00000349129.2	37	c.1270_1272	CCDS4996.1	6																																																																																			-	superfamily_ARM-type_fold		0.281	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	CTT	NM_015018			83832633	1	no_errors	ENST00000349129	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	83832633	CTT	-	83832631	7	5	196	1	0	1	0	1	0	0	0	0	4709	681	24	0	1308	0	DOPEY1	6	83832631	In_Frame_Del	DEL	CTT	TCGA-QC-A7B5-01A-11D-A33E-09	4125489	83832631	87282436	913	14185											
PRSS35	167681	genome.wustl.edu	37	chr6	84233768	84233768	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggcaagaaacgtcgaggttCtaagaggagcaggagagaag	16	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:84233768C>T	ENST00000369700.3	+	2	785	c.608C>T	c.(607-609)tCt>tTt	p.S203F	PRSS35_ENST00000536636.1_Missense_Mutation_p.S203F	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	203	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)		CGTCGAGGTTCTAAGAGGAGC	0.468																																																	0								ENSG00000146250						70	76	74					6																	84233768		2203	4300	6503	PRSS35	SO:0001583	missense	0			-	HGNC	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.608C>T	6.37:g.84233768C>T	ENSP00000358714:p.Ser203Phe	Somatic	0	30	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	A8K7B3|Q9BQP6	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.S203F	ENST00000369700.3	37	c.608	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186014	0.57909	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.65	5.65	0.86999	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.441101	0.22132	N	0.064172	T	0.33177	0.0854	N	0.19112	0.55	0.22835	N	0.998676	P	0.47484	0.896	P	0.48524	0.58	T	0.36261	-0.9755	10	0.72032	D	0.01	-6.9123	19.7135	0.96105	0.0:1.0:0.0:0.0	.	203	Q8N3Z0	PRS35_HUMAN	F	203	ENSP00000440870:S203F;ENSP00000358714:S203F	ENSP00000358714:S203F	S	+	2	0	PRSS35	84290487	0.920000	0.31207	0.024000	0.17045	0.822000	0.46500	2.970000	0.49240	2.665000	0.90641	0.462000	0.41574	TCT	-	superfamily_Trypsin-like_Pept_dom		0.468	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	protein_coding	OTTHUMT00000041352.1	C	NM_153362	-		84233768	1	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	SNP	0.242	T	T	84233768	C	T	84233768	3	4	196	1	0	0	0	0	1	0	0	0	12629	913	32	2	610	2	PRSS35	6	84233768	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	401137	84233768	86881299	914	14186											
C6orf165	154313	genome.wustl.edu	37	chr6	88128033	88128033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagccatccttgagaagGcagccaacgacccactcatg	8	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:88128033G>A	ENST00000507897.1	+	7	822	c.739G>A	c.(739-741)Gca>Aca	p.A247T	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A247T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	247										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CCTTGAGAAGGCAGCCAACGA	0.463																																																	0								ENSG00000272514						101	97	98					6																	88128033		2203	4300	6503	C6ORF165	SO:0001583	missense	0			-	Uniprot_gn	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.739G>A	6.37:g.88128033G>A	ENSP00000426769:p.Ala247Thr	Somatic	0	88	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	39	57.14	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP							pfam_DUF3508	p.A247T	ENST00000507897.1	37	c.739	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	G	1.125	-0.654055	0.03480	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.31247	1.5;1.53	5.16	3.21	0.36854	.	0.863247	0.10374	N	0.682399	T	0.08537	0.0212	L	0.46157	1.445	0.09310	N	1	B;B	0.32753	0.267;0.383	B;B	0.31101	0.124;0.079	T	0.28808	-1.0032	10	0.16896	T	0.51	.	4.1368	0.10174	0.1697:0.0:0.478:0.3523	.	247;247	Q8IYR0;E1P509	CF165_HUMAN;.	T	247	ENSP00000358575:A247T;ENSP00000422494:A247T	ENSP00000358575:A247T	A	+	1	0	C6orf165	88184752	0.010000	0.17322	0.018000	0.16275	0.051000	0.14879	1.259000	0.32956	1.270000	0.44297	0.591000	0.81541	GCA	-	pfam_DUF3508		0.463	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	protein_coding	OTTHUMT00000470406.1	G	NM_178823	-		88128033	1	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	SNP	0.000	A	A	88128033	G	A	88128033	3	1	196	1	0	0	0	0	1	0	0	0	2343	1203	42	2	761	2	C6orf165	6	88128033	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3894265	88128033	82987034	915	14187											
GABRR1	2569	genome.wustl.edu	37	chr6	89907897	89907897	+	Silent	SNP	G	G	A													aacgtcatgctgaggttgttGgtgcttggaaaagacagcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:89907897G>A	ENST00000454853.2	-	5	524	c.414C>T	c.(412-414)acC>acT	p.T138T	GABRR1_ENST00000369451.3_Silent_p.T51T|GABRR1_ENST00000435811.1_Silent_p.T121T	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	138					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)			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)	TGAGGTTGTTGGTGCTTGGAA	0.547																																																	0								ENSG00000146276						328	301	310					6																	89907897		2203	4300	6503	GABRR1	SO:0001819	synonymous_variant	0			-	HGNC		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.414C>T	6.37:g.89907897G>A		Somatic	0	72	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	82	14.58	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.T138	ENST00000454853.2	37	c.414	CCDS5019.2	6																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.547	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	G		-		89907897	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	silent	SNP	1.000	A	A	89907897	G	A	89907897	2	1	196	1	0	0	0	0	0	0	0	1	6178	1335	47	2		2	GABRR1	6	89907897	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1779864	89907897	81207170	916	14188	279	2									
GABRR1	2569	genome.wustl.edu	37	chr6	89907898	89907898	+	Missense_Mutation	SNP	G	G	A													acgtcatgctgaggttgttgGtgcttggaaaagacagcctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:89907898G>A	ENST00000454853.2	-	5	523	c.413C>T	c.(412-414)aCc>aTc	p.T138I	GABRR1_ENST00000369451.3_Missense_Mutation_p.T51I|GABRR1_ENST00000435811.1_Missense_Mutation_p.T121I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	138					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)			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)	GAGGTTGTTGGTGCTTGGAAA	0.552																																																	0								ENSG00000146276						327	299	309					6																	89907898		2203	4300	6503	GABRR1	SO:0001583	missense	0			-	HGNC		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.413C>T	6.37:g.89907898G>A	ENSP00000412673:p.Thr138Ile	Somatic	0	70	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	80	14.89	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.T138I	ENST00000454853.2	37	c.413	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038981	0.35989	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.79554	-1.28;-1.28;-1.28	5.92	5.92	0.95590	Neurotransmitter-gated ion-channel ligand-binding (3);	0.352841	0.36134	N	0.002780	T	0.54581	0.1867	N	0.13140	0.3	0.44862	D	0.997874	B;B	0.13145	0.005;0.007	B;B	0.24006	0.02;0.05	T	0.52801	-0.8527	9	.	.	.	-17.5381	15.7662	0.78128	0.0:0.1355:0.8644:0.0	.	121;138	P24046-2;P24046	.;GBRR1_HUMAN	I	138;121;51;51	ENSP00000412673:T138I;ENSP00000394687:T121I;ENSP00000358463:T51I	.	T	-	2	0	GABRR1	89964617	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.481000	0.60250	2.811000	0.96726	0.555000	0.69702	ACC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.552	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	G		-		89907898	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89907898	G	A	89907898	3	1	196	1	0	0	0	0	1	0	0	0	6178	1261	44	2	1050	2	GABRR1	6	89907898	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	89907898	81207169	917	14189	279	2									
FHL5	9457	genome.wustl.edu	37	chr6	97063567	97063567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggaaatgctctgtctcCttggtgggtaaaggcttcct	13	9	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:97063567C>T	ENST00000326771.2	+	7	1154	c.774C>T	c.(772-774)tcC>tcT	p.S258S	FHL5_ENST00000541107.1_Silent_p.S258S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	258	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GCTCTGTCTCCTTGGTGGGTA	0.493																																																	0								ENSG00000112214						111	107	108					6																	97063567		2203	4300	6503	FHL5	SO:0001819	synonymous_variant	0			-	HGNC	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.774C>T	6.37:g.97063567C>T		Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S258	ENST00000326771.2	37	c.774	CCDS5035.1	6																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.493	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	protein_coding	OTTHUMT00000041559.1	C	NM_020482	-		97063567	1	no_errors	ENST00000326771	ensembl	human	known	74_37	silent	SNP	0.670	T	T	97063567	C	T	97063567	2	4	196	1	0	0	0	0	0	0	0	1	5883	668	24	2		2	FHL5	6	97063567	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7155669	97063567	74051500	918	14190											
BEND3	57673	genome.wustl.edu	37	chr6	107391312	107391312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggccggggtccacctgCtctgcctcaaagaagctggc	13	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:107391312C>T	ENST00000369042.1	-	4	1273	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	BEND3_ENST00000429433.2_Silent_p.E361E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	361										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGTCCACCTGCTCTGCCTCAA	0.647																																																	0								ENSG00000178409						35	35	35					6																	107391312		2203	4300	6503	BEND3	SO:0001819	synonymous_variant	0			-	HGNC	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1083G>A	6.37:g.107391312C>T		Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	A2RRH2|Q9HCL9	Silent	SNP							pfam_BEN_domain	p.E361	ENST00000369042.1	37	c.1083	CCDS34507.1	6																																																																																			-	NULL		0.647	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	protein_coding	OTTHUMT00000041686.1	C	NM_020913	-		107391312	-1	no_errors	ENST00000369042	ensembl	human	known	74_37	silent	SNP	0.996	T	T	107391312	C	T	107391312	2	4	196	1	0	0	0	0	0	0	0	1	1399	796	28	2		2	BEND3	6	107391312	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	10327745	107391312	63723755	919	14191											
SEC63	11231	genome.wustl.edu	37	chr6	108222574	108222574	+	Splice_Site	SNP	C	C	T													cagagaaacctcccacttacCctgtgattttatatccatgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:108222574C>T	ENST00000369002.4	-	13	1536	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	453	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCCACTTACCCTGTGATTTT	0.383																																																	0								ENSG00000025796						96	91	92					6																	108222574		2203	4300	6503	SEC63	SO:0001630	splice_region_variant	0			-	HGNC	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1357+1G>A	6.37:g.108222574C>T		Somatic	0	64	0		0.52429534266604	15	6.25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP							pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.V453M	ENST00000369002.4	37	c.1357	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917554	0.92249	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.62105	0.05	5.81	5.81	0.92471	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77705	-0.2488	9	.	.	.	-16.3553	20.0782	0.97758	0.0:1.0:0.0:0.0	.	453;453	Q9UGP8;B3KQF0	SEC63_HUMAN;.	M	453;104;313	ENSP00000357998:V453M	.	V	-	1	0	SEC63	108329267	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.409000	0.80053	2.746000	0.94184	0.655000	0.94253	GTG	-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom		0.383	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	protein_coding	OTTHUMT00000041705.4	C	NM_007214	-	Missense_Mutation	108222574	-1	no_errors	ENST00000369002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108222574	C	T	108222574	5	4	196	1	0	0	0	0	0	0	1	0	14013	637	22	2	961	2	SEC63	6	108222574	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	831262	108222574	62892493	920	14192	280	2									
SEC63	11231	genome.wustl.edu	37	chr6	108222575	108222575	+	Splice_Site	SNP	C	C	T													agagaaacctcccacttaccCtgtgattttatatccatggt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:108222575C>T	ENST00000369002.4	-	13	1535	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	452	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CCCACTTACCCTGTGATTTTA	0.383																																																	0								ENSG00000025796						96	91	93					6																	108222575		2203	4300	6503	SEC63	SO:0001630	splice_region_variant	0			-	HGNC	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1357+1G>A	6.37:g.108222575C>T		Somatic	0	65	0		0.52429534266604	15	6.25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP							pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.Q452	ENST00000369002.4	37	c.1356	CCDS5061.1	6																																																																																			-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom		0.383	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	protein_coding	OTTHUMT00000041705.4	C	NM_007214	-	Silent	108222575	-1	no_errors	ENST00000369002	ensembl	human	known	74_37	silent	SNP	1.000	T	T	108222575	C	T	108222575	5	4	196	1	0	0	0	0	0	0	1	0	14013	695	24	2	962	2	SEC63	6	108222575	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	108222575	62892492	921	14193	280	2									
MICAL1	64780	genome.wustl.edu	37	chr6	109765428	109765428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccccaaggccagctcgCtgagcctgcgctcctcctgg	11	18	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:109765428C>T	ENST00000358807.3	-	25	3481	c.3170G>A	c.(3169-3171)aGc>aAc	p.S1057N	MICAL1_ENST00000358577.3_Missense_Mutation_p.S971N|MICAL1_ENST00000368952.4_Missense_Mutation_p.S1076N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1057					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGCCAGCTCGCTGAGCCTGCG	0.637																																																	0								ENSG00000135596						36	39	38					6																	109765428		2203	4300	6503	MICAL1	SO:0001583	missense	0			-	HGNC	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3170G>A	6.37:g.109765428C>T	ENSP00000351664:p.Ser1057Asn	Somatic	0	39	0		0.52429534266604	141	24.6	46	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	44	29.03	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S1076N	ENST00000358807.3	37	c.3227	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941949	0.53079	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.44083	0.93;0.93;0.93	5.49	5.49	0.81192	Domain of unknown function DUF3585 (1);	0.395797	0.27986	N	0.017045	T	0.28599	0.0708	M	0.67953	2.075	0.29166	N	0.877466	B;B;B	0.15473	0.002;0.013;0.001	B;B;B	0.09377	0.003;0.004;0.003	T	0.15065	-1.0450	10	0.59425	D	0.04	.	14.8571	0.70347	0.0:1.0:0.0:0.0	.	1076;971;1057	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	1057;1076;971;581;313	ENSP00000351664:S1057N;ENSP00000357948:S1076N;ENSP00000351385:S971N	ENSP00000335372:S313N	S	-	2	0	MICAL1	109872121	0.981000	0.34729	0.968000	0.41197	0.835000	0.47333	2.515000	0.45512	2.582000	0.87167	0.462000	0.41574	AGC	-	pfam_DUF3585		0.637	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	protein_coding	OTTHUMT00000041759.2	C	NM_022765	-		109765428	-1	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	SNP	0.980	T	T	109765428	C	T	109765428	3	4	196	1	0	0	0	0	1	0	0	0	9571	797	28	2	37	2	MICAL1	6	109765428	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1542853	109765428	61349639	922	14194											
MICAL1	64780	genome.wustl.edu	37	chr6	109769155	109769155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtccctggggaggcctGgctgacagggcctgcgggga	21	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:109769155G>T	ENST00000358807.3	-	14	2178	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	MICAL1_ENST00000358577.3_Missense_Mutation_p.Q537K|MICAL1_ENST00000368952.4_Missense_Mutation_p.Q642K	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	623					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGGGAGGCCTGGCTGACAGGG	0.587																																																	0								ENSG00000135596						34	35	35					6																	109769155		2203	4300	6503	MICAL1	SO:0001583	missense	0			-	HGNC	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1867C>A	6.37:g.109769155G>T	ENSP00000351664:p.Gln623Lys	Somatic	0	47	0		0.52429534266604	74	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.Q642K	ENST00000358807.3	37	c.1924	CCDS5076.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.869|6.869	0.529632|0.529632	0.13127|0.13127	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000433205|ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	.|T;T;T	.|0.48201	.|0.82;0.82;0.84	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.497156	.|0.20430	.|N	.|0.092496	T|T	0.22551|0.22551	0.0544|0.0544	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.50943	.|0.839;0.94;0.435	.|B;P;B	.|0.47402	.|0.2;0.546;0.104	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.05620	.|T	.|0.96	.|.	14.7192|14.7192	0.69294|0.69294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|642;537;623	.|B7Z3R5;Q8TDZ2-2;Q8TDZ2	.|.;.;MICA1_HUMAN	Q|K	184|623;642;537;147	.|ENSP00000351664:Q623K;ENSP00000357948:Q642K;ENSP00000351385:Q537K	.|ENSP00000351385:Q537K	P|Q	-|-	2|1	0|0	MICAL1|MICAL1	109875848|109875848	0.196000|0.196000	0.23350|0.23350	0.060000|0.060000	0.19600|0.19600	0.399000|0.399000	0.30720|0.30720	2.796000|2.796000	0.47869|0.47869	2.544000|2.544000	0.85801|0.85801	0.561000|0.561000	0.74099|0.74099	CCA|CAG	-	NULL		0.587	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	protein_coding	OTTHUMT00000041759.2	G	NM_022765	-		109769155	-1	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	SNP	0.044	T	T	109769155	G	T	109769155	3	4	196	1	0	0	0	0	1	0	0	0	9571	1357	47	3	1384	3	MICAL1	6	109769155	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3727	109769155	61345912	923	14195											
CDC40	51362	genome.wustl.edu	37	chr6	110514444	110514444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagttcagtataatccTacctatgagaccatgtttgc	7	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:110514444T>C	ENST00000368932.1	+	3	350	c.249T>C	c.(247-249)ccT>ccC	p.P83P	CDC40_ENST00000307731.1_Silent_p.P83P|CDC40_ENST00000368930.1_Silent_p.P83P			O60508	PRP17_HUMAN	cell division cycle 40	83					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)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGTATAATCCTACCTATGAGA	0.348																																																	0								ENSG00000168438						109	105	106					6																	110514444		2203	4300	6503	CDC40	SO:0001819	synonymous_variant	0			-	HGNC	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.249T>C	6.37:g.110514444T>C		Somatic	0	107	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	88	24.79	B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P83	ENST00000368932.1	37	c.249	CCDS5081.1	6																																																																																			-	NULL		0.348	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	protein_coding	OTTHUMT00000041791.1	T	NM_015891	-		110514444	1	no_errors	ENST00000307731	ensembl	human	known	74_37	silent	SNP	0.911	C	C	110514444	T	C	110514444	2	2	196	1	0	0	0	0	0	0	0	1	3072	1509	53	5		5	CDC40	6	110514444	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	745289	110514444	60600623	924	14196											
FYN	2534	genome.wustl.edu	37	chr6	112021423	112021423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcggtaagccttggcatcCctttgtgacagggaactact	11	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:112021423C>T	ENST00000354650.3	-	9	1352	c.746G>A	c.(745-747)gGg>gAg	p.G249E	FYN_ENST00000476769.2_5'UTR|FYN_ENST00000538466.1_Intron|FYN_ENST00000368678.4_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.G249E|FYN_ENST00000356013.2_Intron|FYN_ENST00000368682.3_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	249					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CCTTGGCATCCCTTTGTGACA	0.527																																																	0								ENSG00000010810						117	109	112					6																	112021423		2203	4300	6503	FYN	SO:0001583	missense	0			-	HGNC	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.746G>A	6.37:g.112021423C>T	ENSP00000346671:p.Gly249Glu	Somatic	0	60	0		0.52429534266604	75	30.56	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G249E	ENST00000354650.3	37	c.746	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165716	0.21538	.	.	ENSG00000010810	ENST00000354650;ENST00000368667	T;T	0.73152	-0.72;-0.72	5.77	5.77	0.91146	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	N	0.11154	0.105	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48703	-0.9012	10	0.02654	T	1	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	249	P06241	FYN_HUMAN	E	249	ENSP00000346671:G249E;ENSP00000357656:G249E	ENSP00000346671:G249E	G	-	2	0	FYN	112128116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	GGG	-	NULL		0.527	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	protein_coding	OTTHUMT00000043655.1	C		-		112021423	-1	no_errors	ENST00000354650	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112021423	C	T	112021423	3	4	196	1	0	0	0	0	1	0	0	0	6128	623	22	2	1051	2	FYN	6	112021423	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1506979	112021423	59093644	925	14197											
C6orf225	619208	genome.wustl.edu	37	chr6	112421880	112421880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttattcaggcaactcCggaggtgccctggaagtcat	10	10	2	0	rs61746601		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:112421880C>T	ENST00000368656.2	+	4	430	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	FAM229B_ENST00000604268.1_Missense_Mutation_p.R45W	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	45																	CAGGCAACTCCGGAGGTGCCC	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		21334	0		0	False		,,,				2504	0																0								ENSG00000203778						90	82	85					6																	112421880		2203	4300	6503	FAM229B	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 225"	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.133C>T	6.37:g.112421880C>T	ENSP00000357645:p.Arg45Trp	Somatic	0	59	0		0.52429534266604	147	25	49	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	B8ZZ33	Missense_Mutation	SNP							NULL	p.R45W	ENST00000368656.2	37	c.133	CCDS34513.1	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.900953	0.52227	.	.	ENSG00000203778	ENST00000368656	.	.	.	5.2	5.2	0.72013	.	0.182918	0.26840	N	0.022235	T	0.75213	0.3819	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77346	-0.2622	8	0.87932	D	0	-9.7748	14.4183	0.67165	0.0:1.0:0.0:0.0	rs61746601	45	Q4G0N7	CF225_HUMAN	W	45	.	ENSP00000357645:R45W	R	+	1	2	C6orf225	112528573	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.208000	0.51114	2.850000	0.98022	0.650000	0.86243	CGG	-	NULL		0.393	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM229B	protein_coding	OTTHUMT00000041870.2	C	NM_001033564	rs61746601		112421880	1	no_errors	ENST00000368656	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112421880	C	T	112421880	3	4	196	1	0	0	0	0	1	0	0	0	2360	643	23	1	139	1	C6orf225	6	112421880	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	400457	112421880	58693187	926	14198											
GPRC6A	222545	genome.wustl.edu	37	chr6	117150000	117150000	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacccaacacactcctggatTtgtggtcgtctgggagagtc	11	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:117150000T>A	ENST00000310357.3	-	1	198	c.177A>T	c.(175-177)caA>caT	p.Q59H	GPRC6A_ENST00000368549.3_Missense_Mutation_p.Q59H|GPRC6A_ENST00000530250.1_Missense_Mutation_p.Q59H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	59					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)			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)		ACTCCTGGATTTGTGGTCGTC	0.388																																																	0								ENSG00000173612						82	80	81					6																	117150000		2203	4300	6503	GPRC6A	SO:0001583	missense	0			-	HGNC	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.177A>T	6.37:g.117150000T>A	ENSP00000309493:p.Gln59His	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP							pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.Q59H	ENST00000310357.3	37	c.177	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179596	0.38511	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.86297	-2.1;-2.1;-2.1	5.05	3.89	0.44902	.	0.385202	0.24359	N	0.039204	T	0.54515	0.1863	N	0.08118	0	0.22541	N	0.99901	B;P;B	0.36315	0.002;0.547;0.008	B;B;B	0.34590	0.003;0.186;0.005	T	0.50154	-0.8861	10	0.37606	T	0.19	.	6.9041	0.24299	0.0:0.19:0.0:0.81	.	59;59;59	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	H	59	ENSP00000309493:Q59H;ENSP00000357537:Q59H;ENSP00000433465:Q59H	ENSP00000309493:Q59H	Q	-	3	2	GPRC6A	117256693	0.993000	0.37304	1.000000	0.80357	0.989000	0.77384	-0.004000	0.12878	0.951000	0.37770	0.460000	0.39030	CAA	-	superfamily_Peripla_BP_I		0.388	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	T		-		117150000	-1	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117150000	T	A	117150000	3	1	196	1	0	0	0	0	1	0	0	0	6730	1838	64	5	2627	5	GPRC6A	6	117150000	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	4728120	117150000	53965067	927	14199											
RFX6	222546	genome.wustl.edu	37	chr6	117198534	117198534	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagactgctgtgtgcagctCctgggcaagggcttgctagt	15	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:117198534C>T	ENST00000332958.2	+	1	112	c.96C>T	c.(94-96)ctC>ctT	p.L32L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	32					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTGTGCAGCTCCTGGGCAAGG	0.667																																																	0								ENSG00000185002						20	23	22					6																	117198534		2203	4300	6503	RFX6	SO:0001819	synonymous_variant	0			-	HGNC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.96C>T	6.37:g.117198534C>T		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	77	14.44	Q5T6B3	Silent	SNP							pfam_DNA-bd_RFX	p.L32	ENST00000332958.2	37	c.96	CCDS5113.1	6																																																																																			-	NULL		0.667	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	protein_coding	OTTHUMT00000041970.2	C	NM_173560	-		117198534	1	no_errors	ENST00000332958	ensembl	human	known	74_37	silent	SNP	0.711	T	T	117198534	C	T	117198534	2	4	196	1	0	0	0	0	0	0	0	1	13275	842	30	2		2	RFX6	6	117198534	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	48534	117198534	53916533	928	14200											
RFX6	222546	genome.wustl.edu	37	chr6	117203573	117203573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctaacaacaaggcggcttgGaacaagaggccattcaaagt	10	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:117203573G>A	ENST00000332958.2	+	4	564	c.548G>A	c.(547-549)gGa>gAa	p.G183E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	183					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGCGGCTTGGAACAAGAGGC	0.393																																																	0								ENSG00000185002						104	89	94					6																	117203573		2202	4300	6502	RFX6	SO:0001583	missense	0			-	HGNC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.548G>A	6.37:g.117203573G>A	ENSP00000332208:p.Gly183Glu	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	42	50.00	Q5T6B3	Missense_Mutation	SNP							pfam_DNA-bd_RFX	p.G183E	ENST00000332958.2	37	c.548	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970633	0.92919	.	.	ENSG00000185002	ENST00000332958	D	0.95103	-3.61	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98085	1.0406	10	0.87932	D	0	-15.816	19.7727	0.96373	0.0:0.0:1.0:0.0	.	183	Q8HWS3	RFX6_HUMAN	E	183	ENSP00000332208:G183E	ENSP00000332208:G183E	G	+	2	0	RFX6	117310266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.588000	0.98232	2.689000	0.91719	0.650000	0.86243	GGA	-	pfam_DNA-bd_RFX		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	protein_coding	OTTHUMT00000041970.2	G	NM_173560	-		117203573	1	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117203573	G	A	117203573	3	1	196	1	0	0	0	0	1	0	0	0	13275	1174	41	2	562	2	RFX6	6	117203573	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5039	117203573	53911494	929	14201											
C6orf204	387119	genome.wustl.edu	37	chr6	118786633	118786633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatattgtagtccttaattCatcaatgtctcttcgtaact	5	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:118786633C>T	ENST00000368491.3	-	13	2974	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	CEP85L_ENST00000368488.5_Missense_Mutation_p.E788K	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	785						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GTCCTTAATTCATCAATGTCT	0.433																																																	0								ENSG00000111860						284	271	275					6																	118786633		2026	4180	6206	CEP85L	SO:0001583	missense	0			-	HGNC	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2353G>A	6.37:g.118786633C>T	ENSP00000357477:p.Glu785Lys	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	56	11.11	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP							NULL	p.E788K	ENST00000368491.3	37	c.2362	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228489	0.79576	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.09630	2.96;2.96	5.54	4.65	0.58169	.	0.056593	0.64402	D	0.000002	T	0.09024	0.0223	L	0.55481	1.735	0.45284	D	0.998286	P	0.45531	0.86	P	0.44561	0.453	T	0.03717	-1.1010	10	0.49607	T	0.09	-13.5132	16.5268	0.84333	0.0:0.869:0.131:0.0	.	785	Q5SZL2	CF204_HUMAN	K	785;788	ENSP00000357477:E785K;ENSP00000357474:E788K	ENSP00000357474:E788K	E	-	1	0	C6orf204	118893326	1.000000	0.71417	0.560000	0.28344	0.719000	0.41307	5.040000	0.64191	1.437000	0.47472	0.591000	0.81541	GAA	-	NULL		0.433	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	protein_coding	OTTHUMT00000041996.2	C	NM_001042475	-		118786633	-1	no_errors	ENST00000368488	ensembl	human	known	74_37	missense	SNP	1.000	T	T	118786633	C	T	118786633	3	4	196	1	0	0	0	0	1	0	0	0	2355	835	29	2	68	2	C6orf204	6	118786633	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1583060	118786633	52328434	930	14202											
MAN1A1	4121	genome.wustl.edu	37	chr6	119522419	119522419	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaatcttctgacttacGttgaccccactgtccactac	5	14	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:119522419G>C	ENST00000368468.3	-	8	1651	c.1210C>G	c.(1210-1212)Cat>Gat	p.H404D		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	404					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCTGACTTACGTTGACCCCAC	0.383																																					Ovarian(136;8 1825 12608 33541 47587)												0								ENSG00000111885						165	161	162					6																	119522419		2203	4300	6503	MAN1A1	SO:0001630	splice_region_variant	0			-	HGNC	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1210+1C>G	6.37:g.119522419G>C		Somatic	0	71	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	37	46.38	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.H404D	ENST00000368468.3	37	c.1210	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737728	0.69304	.	.	ENSG00000111885	ENST00000368468	T	0.70986	-0.53	5.53	3.6	0.41247	.	0.104630	0.64402	D	0.000003	T	0.47192	0.1432	N	0.25286	0.73	0.80722	D	1	B	0.34181	0.44	P	0.47528	0.549	T	0.45205	-0.9277	9	.	.	.	-13.2956	6.0928	0.20003	0.1103:0.0:0.6991:0.1906	.	404	P33908	MA1A1_HUMAN	D	404	ENSP00000357453:H404D	.	H	-	1	0	MAN1A1	119564118	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.525000	0.81892	0.671000	0.31185	0.591000	0.81541	CAT	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.383	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	protein_coding	OTTHUMT00000042015.1	G	NM_005907	-	Missense_Mutation	119522419	-1	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	SNP	1.000	C	C	119522419	G	C	119522419	5	2	196	1	0	0	0	0	0	0	1	0	9212	1159	40	4	775	4	MAN1A1	6	119522419	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	735786	119522419	51592648	931	14203											
C6orf170	221322	genome.wustl.edu	37	chr6	121452831	121452831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaattgtctttggcaGttttctatccattcagtttg	7	7	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:121452831G>A	ENST00000398212.2	-	25	2890	c.2841C>T	c.(2839-2841)aaC>aaT	p.N947N	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Silent_p.N988N	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	947					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)										GTCTTTGGCAGTTTTCTATCC	0.308																																																	0								ENSG00000146350						105	97	100					6																	121452831		1804	4072	5876	TBC1D32	SO:0001819	synonymous_variant	0			-	HGNC	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.2841C>T	6.37:g.121452831G>A		Somatic	0	69	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	49	24.62	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP							superfamily_Rab-GTPase-TBC_dom	p.N988	ENST00000398212.2	37	c.2964	CCDS43501.1	6																																																																																			-	NULL		0.308	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	protein_coding	OTTHUMT00000380937.2	G	NM_152730	-		121452831	-1	no_errors	ENST00000275159	ensembl	human	putative	74_37	silent	SNP	1.000	A	A	121452831	G	A	121452831	2	1	196	1	0	0	0	0	0	0	0	1	2346	1020	36	2		2	C6orf170	6	121452831	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1930412	121452831	49662236	932	14204											
NKAIN2	154215	genome.wustl.edu	37	chr6	124979363	124979363	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcctgacttttaatatatCaatgcaccgatcttggtgga	7	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:124979363C>T	ENST00000368417.1	+	4	365	c.305C>T	c.(304-306)tCa>tTa	p.S102L	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Missense_Mutation_p.S102L|NKAIN2_ENST00000545433.1_Missense_Mutation_p.S87L	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTTAATATATCAATGCACCGA	0.458																																																	0								ENSG00000188580						119	118	118					6																	124979363		2203	4300	6503	NKAIN2	SO:0001583	missense	0			-	HGNC	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"Na+/K+ transporting ATPase interacting"	16443	protein-coding gene	gene with protein product		609758	"T-cell lymphoma breakpoint associated target 1"	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.305C>T	6.37:g.124979363C>T	ENSP00000357402:p.Ser102Leu	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	64	21.95	Q8IYR4|Q8TF67	Missense_Mutation	SNP							pfam_Na/K-Atpase_Interacting	p.S102L	ENST00000368417.1	37	c.305	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654010	0.88056	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000539866;ENST00000545433	T;T;T	0.18960	2.18;2.18;2.18	5.71	5.71	0.89125	.	0.063315	0.64402	D	0.000003	T	0.47060	0.1425	M	0.85945	2.785	0.58432	D	0.999995	P;D;P;D	0.71674	0.626;0.981;0.77;0.998	B;D;B;D	0.70227	0.3;0.962;0.3;0.968	T	0.52801	-0.8527	10	0.87932	D	0	-5.9389	19.9132	0.97031	0.0:1.0:0.0:0.0	.	87;101;102;102	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	L	102;102;101;87	ENSP00000357401:S102L;ENSP00000357402:S102L;ENSP00000437798:S87L	ENSP00000357401:S102L	S	+	2	0	NKAIN2	125021062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.433000	0.80362	2.710000	0.92621	0.644000	0.83932	TCA	-	pfam_Na/K-Atpase_Interacting		0.458	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	protein_coding	OTTHUMT00000042057.1	C	NM_001040214	-		124979363	1	no_errors	ENST00000368417	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124979363	C	T	124979363	3	4	196	1	0	0	0	0	1	0	0	0	10438	838	29	2	319	2	NKAIN2	6	124979363	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3526532	124979363	46135704	933	14205											
RSPO3	84870	genome.wustl.edu	37	chr6	127517048	127517048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgacagcaaaagtctgGaatccagcaaagaaatccca	7	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:127517048G>A	ENST00000356698.4	+	5	1304	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	RSPO3_ENST00000368317.3_Missense_Mutation_p.E239K	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	239					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CAAAAGTCTGGAATCCAGCAA	0.388																																																	0								ENSG00000146374						120	121	120					6																	127517048		2203	4300	6503	RSPO3	SO:0001583	missense	0			-	HGNC	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.715G>A	6.37:g.127517048G>A	ENSP00000349131:p.Glu239Lys	Somatic	0	58	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E239K	ENST00000356698.4	37	c.715	CCDS5135.1	6	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565044	0.45694	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.78924	-1.22;-1.22	5.65	5.65	0.86999	.	0.126265	0.51477	D	0.000090	T	0.52075	0.1712	N	0.24115	0.695	0.41849	D	0.990165	P;B	0.39480	0.675;0.155	B;B	0.36666	0.23;0.051	T	0.57705	-0.7765	10	0.13108	T	0.6	-38.0285	17.9148	0.88945	0.0:0.0:1.0:0.0	.	239;239	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	K	239	ENSP00000349131:E239K;ENSP00000357300:E239K	ENSP00000349131:E239K	E	+	1	0	RSPO3	127558741	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	6.061000	0.71148	2.660000	0.90430	0.467000	0.42956	GAA	-	NULL		0.388	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO3	protein_coding	OTTHUMT00000042111.1	G	NM_032784	-		127517048	1	no_errors	ENST00000368317	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127517048	G	A	127517048	3	1	196	1	0	0	0	0	1	0	0	0	13719	1175	41	2	733	2	RSPO3	6	127517048	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2537685	127517048	43598019	934	14206											
C6orf58	352999	genome.wustl.edu	37	chr6	127898407	127898407	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagggacttccaatctctCagagacagagccccctctgt	9	14	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:127898407C>T	ENST00000329722.7	+	1	89	c.77C>T	c.(76-78)tCa>tTa	p.S26L	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	26						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCCAATCTCTCAGAGACAGAG	0.498																																																	0								ENSG00000184530						122	125	124					6																	127898407		2203	4300	6503	C6orf58	SO:0001583	missense	0			-	HGNC	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.77C>T	6.37:g.127898407C>T	ENSP00000328069:p.Ser26Leu	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	46	37.84	B4E1I0|Q5VUP2	Missense_Mutation	SNP							pfam_DUF781	p.S26L	ENST00000329722.7	37	c.77	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570719	0.65765	.	.	ENSG00000184530	ENST00000329722	T	0.46451	0.87	5.24	4.34	0.51931	.	0.982953	0.08323	N	0.963575	T	0.45357	0.1338	M	0.75447	2.3	0.09310	N	1	P	0.50943	0.94	P	0.54026	0.74	T	0.28650	-1.0037	10	0.56958	D	0.05	-2.8543	11.235	0.48936	0.1818:0.8182:0.0:0.0	.	26	Q6P5S2	CF058_HUMAN	L	26	ENSP00000328069:S26L	ENSP00000328069:S26L	S	+	2	0	C6orf58	127940100	0.001000	0.12720	0.034000	0.17996	0.050000	0.14768	0.267000	0.18552	2.458000	0.83093	0.655000	0.94253	TCA	-	pfam_DUF781		0.498	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	protein_coding	OTTHUMT00000042152.1	C	NM_001010905	-		127898407	1	no_errors	ENST00000329722	ensembl	human	known	74_37	missense	SNP	0.006	T	T	127898407	C	T	127898407	3	4	196	1	0	0	0	0	1	0	0	0	2369	838	29	2	79	2	C6orf58	6	127898407	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	381359	127898407	43216660	935	14207											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130413988	130413988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaaaaacaggacatccCcttcagcctcctttgagtaa	6	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:130413988C>T	ENST00000529410.1	+	19	2096	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	L3MBTL3_ENST00000368136.2_Silent_p.P539P|L3MBTL3_ENST00000368139.2_Silent_p.P514P|L3MBTL3_ENST00000526019.1_Silent_p.P514P|L3MBTL3_ENST00000533560.1_Silent_p.P514P|L3MBTL3_ENST00000361794.2_Silent_p.P539P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	539					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGGACATCCCCTTCAGCCTC	0.398																																																	0								ENSG00000198945						134	123	127					6																	130413988		2203	4300	6503	L3MBTL3	SO:0001819	synonymous_variant	0			-	HGNC	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1617C>T	6.37:g.130413988C>T		Somatic	0	92	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	88	27.87	Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP							pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.P539	ENST00000529410.1	37	c.1617	CCDS34537.1	6																																																																																			-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.398	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	protein_coding	OTTHUMT00000042195.2	C	XM_027074	-		130413988	1	no_errors	ENST00000361794	ensembl	human	known	74_37	silent	SNP	0.978	T	T	130413988	C	T	130413988	2	4	196	1	0	0	0	0	0	0	0	1	8595	610	22	2		2	L3MBTL3	6	130413988	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2515581	130413988	40701079	936	14208											
MED23	9439	genome.wustl.edu	37	chr6	131915262	131915262	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgactagtctgccaatcaatCtgcaatagtaggtgtcatct	8	10	5	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:131915262C>T	ENST00000368068.3	-	23	3388	c.3209G>A	c.(3208-3210)aGa>aAa	p.R1070K	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Missense_Mutation_p.R1076K|MED23_ENST00000368058.1_Missense_Mutation_p.R1076K|MED23_ENST00000368060.3_Missense_Mutation_p.R1070K|MED23_ENST00000354577.4_Missense_Mutation_p.R1076K|MED23_ENST00000545957.1_Missense_Mutation_p.R711K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1070					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCCAATCAATCTGCAATAGTA	0.368																																																	0								ENSG00000112282						109	100	103					6																	131915262		2203	4300	6503	MED23	SO:0001583	missense	0			-	HGNC	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3209G>A	6.37:g.131915262C>T	ENSP00000357047:p.Arg1070Lys	Somatic	0	51	0		0.52429534266604	9	35.71	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	69	28.12	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP							pfam_Mediator_Med23	p.R1076K	ENST00000368068.3	37	c.3227	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	7.028	0.560044	0.13498	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.17	2.18	0.27775	.	0.208574	0.56097	N	0.000025	T	0.16514	0.0397	N	0.01109	-1.01	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.39313	-0.9620	10	0.02654	T	1	-10.2833	9.2739	0.37688	0.0:0.3483:0.0:0.6517	.	711;1070;1076	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	K	1076;1070;1076;1070;1076;711	ENSP00000346588:R1076K;ENSP00000357047:R1070K;ENSP00000384536:R1076K;ENSP00000357039:R1070K;ENSP00000357037:R1076K;ENSP00000439977:R711K	ENSP00000346588:R1076K	R	-	2	0	MED23	131956955	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	2.175000	0.42491	0.093000	0.17368	0.655000	0.94253	AGA	-	pfam_Mediator_Med23		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	protein_coding	OTTHUMT00000042215.1	C		-		131915262	-1	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131915262	C	T	131915262	3	4	196	1	0	0	0	0	1	0	0	0	9443	913	32	2	932	2	MED23	6	131915262	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1501274	131915262	39199805	937	14209											
KIAA1244	57221	genome.wustl.edu	37	chr6	138531092	138531092	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatccatggaaacagattctGatgagaagcagctgctcaat	9	8	2	3	rs141094520		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:138531092G>A	ENST00000251691.4	+	4	431	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AACAGATTCTGATGAGAAGCA	0.493																																																	0								ENSG00000112379						162	145	151					6																	138531092		2203	4300	6503	KIAA1244	SO:0001583	missense	0			-	HGNC	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.265G>A	6.37:g.138531092G>A	ENSP00000251691:p.Asp89Asn	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	61	30.68		Missense_Mutation	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.D89N	ENST00000251691.4	37	c.265	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217037	0.79352	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.71	5.71	0.89125	.	0.355643	0.31301	N	0.007892	T	0.18551	0.0445	L	0.42245	1.32	0.43988	D	0.996689	P	0.46784	0.884	P	0.46419	0.516	T	0.00529	-1.1687	10	0.40728	T	0.16	-21.3602	19.8533	0.96747	0.0:0.0:1.0:0.0	.	89	Q5TH69	BIG3_HUMAN	N	89	ENSP00000251691:D89N	ENSP00000251691:D89N	D	+	1	0	KIAA1244	138572785	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	5.478000	0.66806	2.695000	0.91970	0.555000	0.69702	GAT	-	superfamily_ARM-type_fold		0.493	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	protein_coding	OTTHUMT00000042425.4	G	NM_020340	-		138531092	1	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	SNP	0.998	A	A	138531092	G	A	138531092	3	1	196	1	0	0	0	0	1	0	0	0	8219	1290	45	2	279	2	KIAA1244	6	138531092	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6615830	138531092	32583975	938	14210											
TXLNB	167838	genome.wustl.edu	37	chr6	139563994	139563994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggagaattactggccttgGagggaggttcagcatcactg	14	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:139563994G>A	ENST00000358430.3	-	10	1956	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	575						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACTGGCCTTGGAGGGAGGTTC	0.602																																																	0								ENSG00000164440						51	55	54					6																	139563994		2203	4300	6503	TXLNB	SO:0001583	missense	0			-	HGNC		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1724C>T	6.37:g.139563994G>A	ENSP00000351206:p.Ser575Phe	Somatic	0	32	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP							pfam_Taxilin_fam	p.S575F	ENST00000358430.3	37	c.1724	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728666	0.30593	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.37	2.42	0.29668	.	1.557060	0.03004	N	0.148588	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B	0.32653	0.379	B	0.22152	0.038	T	0.24657	-1.0154	9	.	.	.	-0.8759	6.6596	0.23007	0.307:0.0:0.693:0.0	.	575	Q8N3L3	TXLNB_HUMAN	F	575	ENSP00000351206:S575F	.	S	-	2	0	TXLNB	139605687	0.002000	0.14202	0.004000	0.12327	0.027000	0.11550	1.152000	0.31663	1.160000	0.42584	0.655000	0.94253	TCC	-	NULL		0.602	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	protein_coding	OTTHUMT00000042458.1	G	NM_153235	-		139563994	-1	no_errors	ENST00000358430	ensembl	human	known	74_37	missense	SNP	0.001	A	A	139563994	G	A	139563994	3	1	196	1	0	0	0	0	1	0	0	0	16795	1174	41	2	334	2	TXLNB	6	139563994	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1032902	139563994	31551073	939	14211											
GPR126	57211	genome.wustl.edu	37	chr6	142737080	142737080	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgcagtcctgttgcatttCttccttctggcaacctttac	7	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:142737080C>T	ENST00000230173.6	+	20	3293	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	GPR126_ENST00000367608.2_Silent_p.F911F|GPR126_ENST00000296932.8_Silent_p.F911F|GPR126_ENST00000367609.3_Silent_p.F939F	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	939					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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGTTGCATTTCTTCCTTCTGG	0.448																																																	0								ENSG00000112414						213	204	207					6																	142737080		1967	4161	6128	GPR126	SO:0001819	synonymous_variant	0			-	HGNC	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2817C>T	6.37:g.142737080C>T		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	47	32.86	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F939	ENST00000230173.6	37	c.2817	CCDS47490.1	6																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.448	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	protein_coding	OTTHUMT00000042487.2	C		-		142737080	1	no_errors	ENST00000367609	ensembl	human	known	74_37	silent	SNP	1.000	T	T	142737080	C	T	142737080	2	4	196	1	0	0	0	0	0	0	0	1	6642	912	32	2		2	GPR126	6	142737080	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3173086	142737080	28377987	940	14212											
PHACTR2	9749	genome.wustl.edu	37	chr6	144033200	144033200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactcagatggccccacaGcaggttcccaaacacctccc	6	18	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:144033200G>A	ENST00000427704.2	+	2	191	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PHACTR2_ENST00000367582.3_Missense_Mutation_p.A32T|PHACTR2_ENST00000397980.3_Missense_Mutation_p.A32T|PHACTR2_ENST00000367584.4_Missense_Mutation_p.A89T|PHACTR2_ENST00000305766.6_Missense_Mutation_p.A21T|PHACTR2_ENST00000440869.2_Missense_Mutation_p.A32T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	21							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGCCCCACAGCAGGTTCCCA	0.403																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0								ENSG00000112419						130	129	129					6																	144033200		1840	4087	5927	PHACTR2	SO:0001583	missense	0			-	HGNC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.61G>A	6.37:g.144033200G>A	ENSP00000391763:p.Ala21Thr	Somatic	0	108	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	121	14.18	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP							pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.A32T	ENST00000427704.2	37	c.94	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023341	0.35701	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.33216	1.43;1.88;1.42;1.87;1.43	5.93	0.48	0.16804	.	0.560891	0.21027	N	0.081407	T	0.05502	0.0145	N	0.24115	0.695	0.24656	N	0.993494	B;B;B;B	0.27264	0.173;0.001;0.001;0.001	B;B;B;B	0.22152	0.038;0.003;0.004;0.001	T	0.25082	-1.0142	10	0.59425	D	0.04	.	2.0205	0.03508	0.4532:0.1664:0.262:0.1184	.	32;21;32;21	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	T	89;21;21;32;32;32;32;32	ENSP00000356556:A89T;ENSP00000391763:A21T;ENSP00000305530:A21T;ENSP00000417038:A32T;ENSP00000356554:A32T	ENSP00000305530:A21T	A	+	1	0	PHACTR2	144074893	0.076000	0.21285	0.187000	0.23214	0.871000	0.50021	0.321000	0.19558	0.129000	0.18514	-0.216000	0.12614	GCA	-	NULL		0.403	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	protein_coding	OTTHUMT00000042528.2	G	NM_014721	-		144033200	1	no_errors	ENST00000440869	ensembl	human	known	74_37	missense	SNP	0.025	A	A	144033200	G	A	144033200	3	1	196	1	0	0	0	0	1	0	0	0	11812	971	34	2	117	2	PHACTR2	6	144033200	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1296120	144033200	27081867	941	14213											
UTRN	7402	genome.wustl.edu	37	chr6	144758851	144758851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaatgctagatgggaggctCttagggtggagagtatggac	17	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:144758851C>T	ENST00000367545.3	+	10	1210	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	404	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGGGAGGCTCTTAGGGTGGA	0.483																																																	0								ENSG00000152818						115	99	104					6																	144758851		2203	4300	6503	UTRN	SO:0001583	missense	0			-	HGNC	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1210C>T	6.37:g.144758851C>T	ENSP00000356515:p.Leu404Phe	Somatic	0	108	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	101	36.42	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L404F	ENST00000367545.3	37	c.1210	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268424	0.80469	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.71817	-0.6	5.45	4.58	0.56647	.	0.000000	0.44688	D	0.000434	D	0.83326	0.5230	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87429	0.2387	10	0.87932	D	0	.	13.9341	0.64015	0.0:0.9271:0.0:0.0729	.	404	P46939	UTRO_HUMAN	F	404	ENSP00000356515:L404F	ENSP00000356499:L404F	L	+	1	0	UTRN	144800544	1.000000	0.71417	0.017000	0.16124	0.941000	0.58515	4.976000	0.63785	1.297000	0.44761	0.655000	0.94253	CTT	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	protein_coding	OTTHUMT00000042551.1	C		-		144758851	1	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	SNP	0.994	T	T	144758851	C	T	144758851	3	4	196	1	0	0	0	0	1	0	0	0	17110	913	32	2	1248	2	UTRN	6	144758851	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	725651	144758851	26356216	942	14214											
PCMT1	5110	genome.wustl.edu	37	chr6	150114782	150114782	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggacgatccaacacttctgtCttcagggagagtacagcttg	11	10	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:150114782C>T	ENST00000367380.5	+	5	602	c.395C>T	c.(394-396)tCt>tTt	p.S132F	RP11-350J20.5_ENST00000455607.2_RNA|PCMT1_ENST00000464889.1_Missense_Mutation_p.S190F|PCMT1_ENST00000367384.2_Missense_Mutation_p.S190F|PCMT1_ENST00000367378.1_Missense_Mutation_p.S190F|PCMT1_ENST00000544496.1_Missense_Mutation_p.S97F	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	132					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		ACACTTCTGTCTTCAGGGAGA	0.353																																																	0								ENSG00000120265						77	77	77					6																	150114782		2203	4300	6503	PCMT1	SO:0001583	missense	0			-	HGNC		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.395C>T	6.37:g.150114782C>T	ENSP00000356350:p.Ser132Phe	Somatic	0	112	0		0.52429534266604	186	32.85	91	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	76	38.10	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP							pfam_PCMT,tigrfam_PCMT	p.S190F	ENST00000367380.5	37	c.569		6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402426	0.83230	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496	T;T;T;T;T	0.46451	0.97;0.97;0.97;0.97;0.87	5.77	4.9	0.64082	.	0.199736	0.53938	D	0.000052	T	0.34454	0.0898	M	0.62723	1.935	0.54753	D	0.999982	B;P;P	0.40431	0.407;0.673;0.717	B;B;B	0.41619	0.361;0.301;0.308	T	0.36841	-0.9731	10	0.66056	D	0.02	-10.1199	16.8084	0.85712	0.0:0.8711:0.1289:0.0	.	97;132;132	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	F	190;190;190;132;97	ENSP00000356354:S190F;ENSP00000356348:S190F;ENSP00000420813:S190F;ENSP00000356350:S132F;ENSP00000438247:S97F	ENSP00000356348:S190F	S	+	2	0	PCMT1	150156475	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.684000	0.84104	1.421000	0.47157	0.591000	0.81541	TCT	-	pfam_PCMT,tigrfam_PCMT		0.353	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	PCMT1	protein_coding		C		-		150114782	1	no_errors	ENST00000367384	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150114782	C	T	150114782	3	4	196	1	0	0	0	0	1	0	0	0	11587	913	32	2	587	2	PCMT1	6	150114782	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5355931	150114782	21000285	943	14215											
SYNE1	23345	genome.wustl.edu	37	chr6	152570314	152570314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctatttgttctgctacGggctgttcaaacacatttgc	7	11	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:152570314G>A	ENST00000367255.5	-	105	20155	c.19554C>T	c.(19552-19554)ccC>ccT	p.P6518P	SYNE1_ENST00000265368.4_Silent_p.P6518P|SYNE1_ENST00000448038.1_Silent_p.P6447P|SYNE1_ENST00000341594.5_Silent_p.P6130P|SYNE1_ENST00000423061.1_Silent_p.P6447P|SYNE1_ENST00000356820.4_Silent_p.P1042P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6518					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)		GTTCTGCTACGGGCTGTTCAA	0.358										HNSCC(10;0.0054)																																							0								ENSG00000131018						109	105	106					6																	152570314		2203	4300	6503	SYNE1	SO:0001819	synonymous_variant	0			-	HGNC	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.19554C>T	6.37:g.152570314G>A		Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	85	9.57	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.P6518	ENST00000367255.5	37	c.19554	CCDS5236.2	6																																																																																			-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152570314	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	SNP	0.192	A	A	152570314	G	A	152570314	2	1	196	1	0	0	0	0	0	0	0	1	15452	1103	39	1		1	SYNE1	6	152570314	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2455532	152570314	18544753	944	14216											
RBM16	22828	genome.wustl.edu	37	chr6	155154371	155154371	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggttaatggtgaaaatacaGagagacatgctcagccacca	10	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:155154371G>A	ENST00000367178.3	+	20	4234	c.3658G>A	c.(3658-3660)Gag>Aag	p.E1220K	SCAF8_ENST00000417268.1_Missense_Mutation_p.E1220K|SCAF8_ENST00000367186.4_Missense_Mutation_p.E1286K|TIAM2_ENST00000461783.3_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1220					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						TGAAAATACAGAGAGACATGC	0.418																																																	0								ENSG00000213079						80	78	79					6																	155154371		2203	4300	6503	SCAF8	SO:0001583	missense	0			-	HGNC	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.3658G>A	6.37:g.155154371G>A	ENSP00000356146:p.Glu1220Lys	Somatic	0	19	0		0.52429534266604	58	36.26	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP							pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.E1286K	ENST00000367178.3	37	c.3856	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580753	0.65992	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.50548	0.78;0.78;0.74	5.62	5.62	0.85841	.	0.297385	0.27331	U	0.019860	T	0.52533	0.1740	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.57470	-0.7806	10	0.87932	D	0	.	19.6445	0.95771	0.0:0.0:1.0:0.0	.	1265;1286;1220	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	K	1220;1220;1286;181	ENSP00000356146:E1220K;ENSP00000413098:E1220K;ENSP00000356154:E1286K	ENSP00000356146:E1220K	E	+	1	0	TIAM2;SCAF8	155196063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.544000	0.82117	2.646000	0.89796	0.655000	0.94253	GAG	-	NULL		0.418	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	protein_coding	OTTHUMT00000042798.1	G	NM_014892	-		155154371	1	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155154371	G	A	155154371	3	1	196	1	0	0	0	0	1	0	0	0	13126	943	33	2	3736	2	RBM16	6	155154371	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2584057	155154371	15960696	945	14217											
TAGAP	117289	genome.wustl.edu	37	chr6	159457214	159457214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtcatgctccccacgGtctggctctcggaggccact	10	18	3	0	rs369625327		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:159457214G>A	ENST00000367066.3	-	10	2172	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.T436I|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	614					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTCCCCACGGTCTGGCTCTC	0.642																																																	0								ENSG00000164691						44	46	45					6																	159457214		2203	4300	6503	TAGAP	SO:0001583	missense	0			-	HGNC	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1841C>T	6.37:g.159457214G>A	ENSP00000356033:p.Thr614Ile	Somatic	0	16	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T614I	ENST00000367066.3	37	c.1841	CCDS5261.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.239141|1.239141	0.22711|0.22711	.|.	.|.	ENSG00000164691|ENSG00000164691	ENST00000539071|ENST00000367066;ENST00000326965	.|T;T	.|0.23552	.|1.9;2.15	2.87|2.87	1.98|1.98	0.26296|0.26296	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.35982	.|0.531	.|B	.|0.26094	.|0.066	T|T	0.32481|0.32481	-0.9905|-0.9905	6|10	0.87932|0.59425	D|D	0|0.04	.|.	6.9369|6.9369	0.24470|0.24470	0.0:0.0:0.7274:0.2726|0.0:0.0:0.7274:0.2726	.|.	.|614	.|Q8N103	.|TAGAP_HUMAN	S|I	272|614;436	.|ENSP00000356033:T614I;ENSP00000322650:T436I	ENSP00000441966:P272S|ENSP00000322650:T436I	P|T	-|-	1|2	0|0	TAGAP|TAGAP	159377202|159377202	0.721000|0.721000	0.28007|0.28007	0.890000|0.890000	0.34922|0.34922	0.049000|0.049000	0.14656|0.14656	-0.571000|-0.571000	0.05889|0.05889	0.407000|0.407000	0.25591|0.25591	-0.823000|-0.823000	0.03104|0.03104	CCG|ACC	-	NULL		0.642	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	protein_coding	OTTHUMT00000042890.1	G	NM_054114	-		159457214	-1	no_errors	ENST00000367066	ensembl	human	known	74_37	missense	SNP	0.778	A	A	159457214	G	A	159457214	3	1	196	1	0	0	0	0	1	0	0	0	15544	1261	44	2	358	2	TAGAP	6	159457214	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4302843	159457214	11657853	946	14218											
GPR31	2853	genome.wustl.edu	37	chr6	167570891	167570891	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcccgggcaggtgagggcGaccatcaggagccagacgag	17	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:167570891G>A	ENST00000366834.1	-	1	926	c.429C>T	c.(427-429)gtC>gtT	p.V143V		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTGAGGGCGACCATCAGGA	0.642																																																	0								ENSG00000120436						49	58	54					6																	167570891		2203	4300	6503	GPR31	SO:0001819	synonymous_variant	0			-	HGNC	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.429C>T	6.37:g.167570891G>A		Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	78	21.21	B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V143	ENST00000366834.1	37	c.429	CCDS5299.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	protein_coding	OTTHUMT00000043111.1	G	NM_005299	-		167570891	-1	no_errors	ENST00000366834	ensembl	human	known	74_37	silent	SNP	0.000	A	A	167570891	G	A	167570891	2	1	196	1	0	0	0	0	0	0	0	1	6689	1045	37	1		1	GPR31	6	167570891	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8113677	167570891	3544176	947	14219											
WDR27	253769	genome.wustl.edu	37	chr6	170047928	170047928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcgacctgggggccgGgcttggtgggcacagcgcac	19	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:170047928G>A	ENST00000448612.1	-	16	1707	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.P533L|WDR27_ENST00000423258.1_Missense_Mutation_p.P406L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	503						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)		CTGGGGGCCGGGCTTGGTGGG	0.602																																																	0								ENSG00000184465						9	14	12					6																	170047928		2021	4146	6167	WDR27	SO:0001583	missense	0			-	HGNC	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.1598C>T	6.37:g.170047928G>A	ENSP00000416289:p.Pro533Leu	Somatic	0	112	0		0.52429534266604	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	117	31.58	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P533L	ENST00000448612.1	37	c.1598	CCDS47520.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.505|2.505	-0.314372|-0.314372	0.05422|0.05422	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258|ENST00000441385	T;T;D|T	0.95980|0.22539	1.87;1.04;-3.87|1.95	3.9|3.9	1.52|1.52	0.23074|0.23074	.|.	1.056170|1.056170	0.07462|0.07462	N|N	0.900791|0.900791	T|T	0.01730|0.01730	0.0055|0.0055	N|N	0.01576|0.01576	-0.805|-0.805	0.19775|0.19775	N|N	0.99996|0.99996	B;B;B|.	0.09022|.	0.0;0.002;0.001|.	B;B;B|.	0.08055|.	0.0;0.003;0.001|.	T|T	0.44283|0.44283	-0.9338|-0.9338	10|8	0.10636|0.22109	T|T	0.68|0.4	-8.4478|-8.4478	5.1272|5.1272	0.14890|0.14890	0.7384:0.0:0.2616:0.0|0.7384:0.0:0.2616:0.0	.|.	533;406;533|.	F2Z2U5;A2RRH5-2;C9JGV0|.	.;.;.|.	L|S	533;533;406|167	ENSP00000416289:P533L;ENSP00000330265:P533L;ENSP00000397869:P406L|ENSP00000411915:P167S	ENSP00000330265:P533L|ENSP00000411915:P167S	P|P	-|-	2|1	0|0	WDR27|WDR27	169789853|169789853	0.008000|0.008000	0.16893|0.16893	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	0.639000|0.639000	0.24690|0.24690	0.209000|0.209000	0.20645|0.20645	-0.302000|-0.302000	0.09304|0.09304	CCC|CCG	-	smart_WD40_repeat		0.602	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	protein_coding	OTTHUMT00000407334.1	G	NM_182552	-		170047928	-1	no_errors	ENST00000448612	ensembl	human	known	74_37	missense	SNP	0.004	A	A	170047928	G	A	170047928	3	1	196	1	0	0	0	0	1	0	0	0	17291	1232	43	2	1015	2	WDR27	6	170047928	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2477037	170047928	1067139	948	14220											
FOXK1	221937	genome.wustl.edu	37	chr7	4794920	4794920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgatcgtgcaggccatctCctccgcccaggaccggcagc	12	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:4794920C>T	ENST00000328914.4	+	4	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S156F	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGGCCATCTCCTCCGCCCAG	0.627																																																	0								ENSG00000164916						69	60	63					7																	4794920		2203	4300	6503	FOXK1	SO:0001583	missense	0			-	HGNC	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.956C>T	7.37:g.4794920C>T	ENSP00000328720:p.Ser319Phe	Somatic	0	57	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	67	9.46		Missense_Mutation	SNP							pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.S319F	ENST00000328914.4	37	c.956	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.235922	0.95240	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95690	-3.78;-3.78	5.35	5.35	0.76521	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	L	0.49699	1.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.963	D	0.93795	0.7096	10	0.07644	T	0.81	.	18.0801	0.89440	0.0:1.0:0.0:0.0	.	319;156	P85037;P85037-2	FOXK1_HUMAN;.	F	156;83;319;202	ENSP00000394442:S156F;ENSP00000328720:S319F	ENSP00000328720:S319F	S	+	2	0	FOXK1	4761446	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.811000	0.86092	2.503000	0.84419	0.655000	0.94253	TCC	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.627	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	protein_coding	OTTHUMT00000323729.2	C		-		4794920	1	no_errors	ENST00000328914	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4794920	C	T	4794920	3	4	196	1	0	0	0	0	1	0	0	0	6016	855	30	2	970	2	FOXK1	7	4794920	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		4794920	154343743	949	14221											
KIAA0415	9907	genome.wustl.edu	37	chr7	4820926	4820926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctcatcatctcagcCacgaagtacagccggaggtg	9	14	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:4820926C>T	ENST00000348624.4	+	2	256	c.162C>T	c.(160-162)gcC>gcT	p.A54A	AP5Z1_ENST00000401897.1_Silent_p.A54A	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	54					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCATCTCAGCCACGAAGTACA	0.627																																																	0								ENSG00000242802						41	47	45					7																	4820926		2114	4245	6359	AP5Z1	SO:0001819	synonymous_variant	0			-	HGNC	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.162C>T	7.37:g.4820926C>T		Somatic	0	42	0		0.52429534266604	28	30	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85	Q8N3X2|Q96H80	Silent	SNP							NULL	p.A54	ENST00000348624.4	37	c.162	CCDS47528.1	7																																																																																			-	NULL		0.627	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	protein_coding	OTTHUMT00000323771.1	C		-		4820926	1	no_errors	ENST00000348624	ensembl	human	known	74_37	silent	SNP	1.000	T	T	4820926	C	T	4820926	2	4	196	1	0	0	0	0	0	0	0	1	8177	581	21	2		2	KIAA0415	7	4820926	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	26006	4820926	154317737	950	14222											
RADIL	55698	genome.wustl.edu	37	chr7	4862080	4862080	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagtgggcatttctgctgGataaagtacaggagctcgat	13	6	1	1	rs370334624		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:4862080G>A	ENST00000399583.3	-	6	1747	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	RADIL_ENST00000538469.1_Silent_p.I280I|RADIL_ENST00000536091.1_Intron	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	520	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ATTTCTGCTGGATAAAGTACA	0.587																																																	0								ENSG00000157927						43	50	48					7																	4862080		1968	4151	6119	RADIL	SO:0001819	synonymous_variant	0			-	HGNC	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1560C>T	7.37:g.4862080G>A		Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP							pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.I520	ENST00000399583.3	37	c.1560	CCDS43544.1	7																																																																																			-	pfscan_Dilute		0.587	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	protein_coding	OTTHUMT00000323769.2	G	NM_018059	-		4862080	-1	no_errors	ENST00000399583	ensembl	human	known	74_37	silent	SNP	0.833	A	A	4862080	G	A	4862080	2	1	196	1	0	0	0	0	0	0	0	1	13005	1164	41	2		2	RADIL	7	4862080	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	41154	4862080	154276583	951	14223											
RBAK	57786	genome.wustl.edu	37	chr7	5104176	5104176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacacatctcaccctgcaCcagaggaatcattcaggaga	8	12	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:5104176C>T	ENST00000353796.3	+	6	1413	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.H363H	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	363					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCACCCTGCACCAGAGGAATC	0.488																																																	0								ENSG00000146587						158	160	159					7																	5104176		2203	4300	6503	RBAK	SO:0001819	synonymous_variant	0			-	HGNC	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1089C>T	7.37:g.5104176C>T		Somatic	0	51	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	52	35.00	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H363	ENST00000353796.3	37	c.1089	CCDS5337.1	7																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	protein_coding	OTTHUMT00000241640.2	C	NM_021163	-		5104176	1	no_errors	ENST00000353796	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5104176	C	T	5104176	2	4	196	1	0	0	0	0	0	0	0	1	13108	506	18	2		2	RBAK	7	5104176	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	242096	5104176	154034487	952	14224											
TNRC18	84629	genome.wustl.edu	37	chr7	5391714	5391714	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggaattcttcgtcttcctCtgagtccgtatctgcagtca	8	12	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:5391714C>T	ENST00000430969.1	-	17	5554	c.5206G>A	c.(5206-5208)Gag>Aag	p.E1736K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1736K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1736							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCGTCTTCCTCTGAGTCCGTA	0.493																																																	0								ENSG00000182095						38	34	35					7																	5391714		1568	3582	5150	TNRC18	SO:0001583	missense	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5206G>A	7.37:g.5391714C>T	ENSP00000395538:p.Glu1736Lys	Somatic	0	37	0		0.52429534266604	30	48.28	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1736K	ENST00000430969.1	37	c.5206	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	c	18.11	3.550669	0.65311	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.57752	2.35;2.35;0.38	5.03	5.03	0.67393	.	0.000000	0.36972	N	0.002307	T	0.55705	0.1937	M	0.68952	2.095	0.41980	D	0.990792	P;P	0.45348	0.799;0.856	B;B	0.42214	0.38;0.283	T	0.60151	-0.7319	10	0.38643	T	0.18	.	18.3528	0.90344	0.0:1.0:0.0:0.0	.	791;1736	A8MSW5;O15417	.;TNC18_HUMAN	K	1736;1736;791;226	ENSP00000382452:E1736K;ENSP00000395538:E1736K;ENSP00000395990:E226K	ENSP00000382452:E1736K	E	-	1	0	TNRC18	5358240	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	5.655000	0.67981	2.348000	0.79779	0.561000	0.74099	GAG	-	NULL		0.493	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		C		-		5391714	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5391714	C	T	5391714	3	4	196	1	0	0	0	0	1	0	0	0	16346	922	32	2	3756	2	TNRC18	7	5391714	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	287538	5391714	153746949	953	14225											
THSD7A	221981	genome.wustl.edu	37	chr7	11676079	11676079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctggaactccgtcaggtTtggacagccagagcctccga	11	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:11676079T>C	ENST00000423059.4	-	2	951	c.700A>G	c.(700-702)Aac>Gac	p.N234D	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	234	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCGTCAGGTTTGGACAGCCA	0.652										HNSCC(18;0.044)																																							0								ENSG00000005108						31	31	31					7																	11676079		2053	4205	6258	THSD7A	SO:0001583	missense	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.700A>G	7.37:g.11676079T>C	ENSP00000406482:p.Asn234Asp	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N234D	ENST00000423059.4	37	c.700	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799183	0.70567	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.50548	0.74	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.28608	0.87	0.80722	D	1	D	0.56287	0.975	P	0.58391	0.838	T	0.36016	-0.9765	10	0.12430	T	0.62	.	16.1251	0.81386	0.0:0.0:0.0:1.0	.	234	Q9UPZ6	THS7A_HUMAN	D	234	ENSP00000406482:N234D	ENSP00000262042:N234D	N	-	1	0	THSD7A	11642604	1.000000	0.71417	0.931000	0.37212	0.391000	0.30476	6.231000	0.72307	2.267000	0.75376	0.477000	0.44152	AAC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.652	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	T	XM_928187.2	-		11676079	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	SNP	0.999	C	C	11676079	T	C	11676079	3	2	196	1	0	0	0	0	1	0	0	0	15886	1841	64	5	4377	5	THSD7A	7	11676079	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	6284365	11676079	147462584	954	14226											
SCIN	85477	genome.wustl.edu	37	chr7	12644139	12644139	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctgtctctttcttttagGaaatttatcagtggtgtggt	10	5	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:12644139G>A	ENST00000297029.5	+	4	618	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	173	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)		TTTCTTTTAGGAAATTTATCA	0.388																																																	0								ENSG00000006747						173	143	152					7																	12644139		692	1591	2283	SCIN	SO:0001630	splice_region_variant	0			-	HGNC	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.517-1G>A	7.37:g.12644139G>A		Somatic	0	87	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	87	13.00	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP							pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.E173K	ENST00000297029.5	37	c.517	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325878	0.41197	.	.	ENSG00000006747	ENST00000297029;ENST00000523729;ENST00000518849	T;T;T	0.53423	0.62;0.62;0.62	5.46	3.65	0.41850	Gelsolin domain (1);	0.474116	0.23118	N	0.051725	T	0.30262	0.0759	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.09292	-1.0681	10	0.06236	T	0.91	-19.8453	13.1757	0.59626	0.1952:0.0:0.8048:0.0	.	173	Q9Y6U3	ADSV_HUMAN	K	173;14;14	ENSP00000297029:E173K;ENSP00000429598:E14K;ENSP00000428555:E14K	ENSP00000297029:E173K	E	+	1	0	SCIN	12610664	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	2.465000	0.45075	0.387000	0.25024	-1.094000	0.02160	GAA	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin		0.388	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	protein_coding	OTTHUMT00000326041.1	G	NM_033128	-	Missense_Mutation	12644139	1	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12644139	G	A	12644139	5	1	196	1	0	0	0	0	0	0	1	0	13913	1188	41	2	531	2	SCIN	7	12644139	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	968060	12644139	146494524	955	14227											
DGKB	1607	genome.wustl.edu	37	chr7	14217733	14217733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatttgccccatctccatGgctccttccaagccgaccac	5	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:14217733G>A	ENST00000403951.2	-	24	2588	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	DGKB_ENST00000406247.3_Silent_p.A723A|DGKB_ENST00000258767.5_Silent_p.A723A|DGKB_ENST00000399322.3_Silent_p.A723A|DGKB_ENST00000407950.1_Silent_p.A715A|DGKB_ENST00000444700.2_Silent_p.A704A|DGKB_ENST00000402815.1_Silent_p.A722A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	723					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCATCTCCATGGCTCCTTCCA	0.498																																																	0								ENSG00000136267						83	91	88					7																	14217733		2117	4280	6397	DGKB	SO:0001819	synonymous_variant	0			-	HGNC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2169C>T	7.37:g.14217733G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.22	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A723	ENST00000403951.2	37	c.2169	CCDS47547.1	7																																																																																			-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.498	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	protein_coding	OTTHUMT00000326356.2	G	NM_004080	-		14217733	-1	no_errors	ENST00000258767	ensembl	human	known	74_37	silent	SNP	1.000	A	A	14217733	G	A	14217733	2	1	196	1	0	0	0	0	0	0	0	1	4468	1335	47	2		2	DGKB	7	14217733	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1573594	14217733	144920930	956	14228											
DNAH11	8701	genome.wustl.edu	37	chr7	21723448	21723448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtctcaacttcgtcaccGatgggaggatacccagaaac	10	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:21723448G>A	ENST00000409508.3	+	32	5538	c.5507G>A	c.(5506-5508)cGa>cAa	p.R1836Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1843Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1843	Stem. {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						CTTCGTCACCGATGGGAGGAT	0.448									Kartagener syndrome																																								0								ENSG00000105877						303	281	288					7																	21723448		1917	4116	6033	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.5507G>A	7.37:g.21723448G>A	ENSP00000475939:p.Arg1836Gln	Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	69	35.78	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1843Q	ENST00000409508.3	37	c.5528		7	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917239	0.52546	.	.	ENSG00000105877	ENST00000328843	T	0.23950	1.88	5.93	-11.5	0.00074	.	0.805000	0.11786	N	0.529665	T	0.19248	0.0462	.	.	.	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.42905	T	0.14	.	22.8062	0.99976	0.2393:0.0:0.7607:0.0	.	1843	Q96DT5	DYH11_HUMAN	Q	1843	ENSP00000330671:R1843Q	ENSP00000330671:R1843Q	R	+	2	0	DNAH11	21689973	0.858000	0.29795	0.297000	0.24988	0.696000	0.40369	0.898000	0.28404	-2.316000	0.00645	-1.051000	0.02340	CGA	-	NULL		0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	G	NM_003777	-		21723448	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	0.510	A	A	21723448	G	A	21723448	3	1	196	1	0	0	0	0	1	0	0	0	4601	1058	37	1	5655	1	DNAH11	7	21723448	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7505715	21723448	137415215	957	14229											
TRA2A	29896	genome.wustl.edu	37	chr7	23556110	23556110	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagagtgggatctggatcGagtgtaacgtctatgagaat	15	4	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:23556110G>A	ENST00000297071.4	-	3	424	c.208C>T	c.(208-210)Cga>Tga	p.R70*	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	70	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GATCTGGATCGAGTGTAACGT	0.448																																					Pancreas(121;2137 2973 46590)												0								ENSG00000164548						149	128	135					7																	23556110		2203	4300	6503	TRA2A	SO:0001587	stop_gained	0			-	HGNC	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.208C>T	7.37:g.23556110G>A	ENSP00000297071:p.Arg70*	Somatic	0	84	0		0.52429534266604	80	13.98	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	63	39.42	B4DUA9	Nonsense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R70*	ENST00000297071.4	37	c.208	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.953255	0.97139	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	5.88	0.94601	.	0.127829	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3313	20.2954	0.98549	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000297071:R70X	R	-	1	2	TRA2A	23522635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.975000	0.70475	2.805000	0.96524	0.460000	0.39030	CGA	-	NULL		0.448	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	protein_coding	OTTHUMT00000250257.1	G	NM_013293	-		23556110	-1	no_errors	ENST00000297071	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	23556110	G	A	23556110	4	1	196	1	0	0	0	0	0	1	0	0	16440	1066	37	1	664	1	TRA2A	7	23556110	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1832662	23556110	135582553	958	14230											
DFNA5	1687	genome.wustl.edu	37	chr7	24756994	24756994	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcctccgtcgctgacacCtgtgggcaaaagcgcacact	9	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:24756994C>T	ENST00000342947.3	-	5	1002		c.e5-1		DFNA5_ENST00000545231.1_Splice_Site|DFNA5_ENST00000409775.3_Splice_Site|DFNA5_ENST00000419307.1_Splice_Site|DFNA5_ENST00000409970.1_Splice_Site|DFNA5_ENST00000559637.1_Splice_Site	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCGCTGACACCTGTGGGCAAA	0.572																																					GBM(78;184 1250 20134 20900 23600)												0								ENSG00000105928						111	81	91					7																	24756994		2203	4300	6503	DFNA5	SO:0001630	splice_region_variant	0			-	HGNC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.577-1G>A	7.37:g.24756994C>T		Somatic	0	25	0		0.52429534266604	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Splice_Site	SNP							-	e4-1	ENST00000342947.3	37	c.577-1	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518506	0.27211	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000446822	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5849	0.91185	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DFNA5	24723519	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.759000	0.62227	2.676000	0.91093	0.655000	0.94253	.	-	-		0.572	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	protein_coding	OTTHUMT00000214060.2	C	NM_004403	-	Intron	24756994	-1	no_errors	ENST00000342947	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	24756994	C	T	24756994	5	4	196	1	0	0	0	0	0	0	1	0	4456	695	24	2	938	2	DFNA5	7	24756994	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1200884	24756994	134381669	959	14231											
OSBPL3	26031	genome.wustl.edu	37	chr7	24903199	24903199	+	Silent	SNP	G	G	A													tggctcatttctaccaggtaGgcatgacagtgcgccaggtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:24903199G>A	ENST00000313367.2	-	8	1144	c.693C>T	c.(691-693)gcC>gcT	p.A231A	OSBPL3_ENST00000396429.1_Silent_p.A231A|OSBPL3_ENST00000396431.1_Silent_p.A231A|OSBPL3_ENST00000352860.1_Silent_p.A231A|OSBPL3_ENST00000409069.1_Silent_p.A231A|OSBPL3_ENST00000431825.2_Silent_p.A231A|OSBPL3_ENST00000353930.1_Silent_p.A231A	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	231					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTACCAGGTAGGCATGACAGT	0.562																																																	0								ENSG00000070882						139	118	125					7																	24903199		2203	4300	6503	OSBPL3	SO:0001819	synonymous_variant	0			-	HGNC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.693C>T	7.37:g.24903199G>A		Somatic	0	44	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A231	ENST00000313367.2	37	c.693	CCDS5390.1	7																																																																																			-	NULL		0.562	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	protein_coding	OTTHUMT00000214085.2	G		-		24903199	-1	no_errors	ENST00000313367	ensembl	human	known	74_37	silent	SNP	0.004	A	A	24903199	G	A	24903199	2	1	196	1	0	0	0	0	0	0	0	1	11281	987	35	2		2	OSBPL3	7	24903199	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	146205	24903199	134235464	960	14232	281	2									
OSBPL3	26031	genome.wustl.edu	37	chr7	24903200	24903200	+	Missense_Mutation	SNP	G	G	A													ggctcatttctaccaggtagGcatgacagtgcgccaggtct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:24903200G>A	ENST00000313367.2	-	8	1143	c.692C>T	c.(691-693)gCc>gTc	p.A231V	OSBPL3_ENST00000396429.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A231V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A231V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	231					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCAGGTAGGCATGACAGTG	0.562																																																	0								ENSG00000070882						138	117	124					7																	24903200		2203	4300	6503	OSBPL3	SO:0001583	missense	0			-	HGNC	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.692C>T	7.37:g.24903200G>A	ENSP00000315410:p.Ala231Val	Somatic	0	43	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A231V	ENST00000313367.2	37	c.692	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290270	0.40494	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.43688	2.29;0.94;0.95;2.27;0.94;0.95;2.27	5.87	4.99	0.66335	.	0.733633	0.13567	N	0.378377	T	0.43166	0.1235	L	0.54323	1.7	0.09310	N	0.999999	B;B;B;B	0.22983	0.078;0.078;0.078;0.047	B;B;B;B	0.31290	0.127;0.103;0.127;0.089	T	0.40175	-0.9577	10	0.49607	T	0.09	-10.0939	11.3453	0.49556	0.0:0.2503:0.6182:0.1315	.	231;231;231;231	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	V	231	ENSP00000315410:A231V;ENSP00000315331:A231V;ENSP00000315277:A231V;ENSP00000389779:A231V;ENSP00000379708:A231V;ENSP00000379706:A231V;ENSP00000386953:A231V	ENSP00000315410:A231V	A	-	2	0	OSBPL3	24869725	0.992000	0.36948	0.011000	0.14972	0.854000	0.48673	4.433000	0.59929	1.485000	0.48380	0.655000	0.94253	GCC	-	NULL		0.562	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	protein_coding	OTTHUMT00000214085.2	G		-		24903200	-1	no_errors	ENST00000313367	ensembl	human	known	74_37	missense	SNP	0.014	A	A	24903200	G	A	24903200	3	1	196	1	0	0	0	0	1	0	0	0	11281	1203	42	2	2035	2	OSBPL3	7	24903200	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	24903200	134235463	961	14233	281	2									
HOXA3	3200	genome.wustl.edu	37	chr7	27149779	27149779	+	Missense_Mutation	SNP	C	C	T													ctttgtgttttgtcgagactCtttcatccaggggaagattt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:27149779C>T	ENST00000396352.4	-	2	680	c.481G>A	c.(481-483)Gag>Aag	p.E161K	HOXA3_ENST00000317201.2_Missense_Mutation_p.E161K|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	161					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTCGAGACTCTTTCATCCAG	0.567																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0								ENSG00000105997						115	114	115					7																	27149779		2203	4300	6503	HOXA3	SO:0001583	missense	0			-	HGNC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.481G>A	7.37:g.27149779C>T	ENSP00000379640:p.Glu161Lys	Somatic	0	44	0		0.52429534266604	7	46.15	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	A4D181	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.E161K	ENST00000396352.4	37	c.481	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702922	0.88924	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	T;T	0.06218	3.33;3.33	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.89534	3.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.24119	-1.0169	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	161	O43365	HXA3_HUMAN	K	161;161;3	ENSP00000379640:E161K;ENSP00000324884:E161K	ENSP00000324884:E161K	E	-	1	0	HOXA3	27116304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.769000	0.95229	0.655000	0.94253	GAG	-	NULL		0.567	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	protein_coding	OTTHUMT00000358708.2	C		-		27149779	-1	no_errors	ENST00000317201	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27149779	C	T	27149779	3	4	196	1	0	0	0	0	1	0	0	0	7295	922	32	2	858	2	HOXA3	7	27149779	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2246579	27149779	131988884	962	14234	282	2									
HOXA3	3200	genome.wustl.edu	37	chr7	27149780	27149780	+	Missense_Mutation	SNP	T	T	A													tttgtgttttgtcgagactcTttcatccaggggaagatttg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:27149780T>A	ENST00000396352.4	-	2	679	c.480A>T	c.(478-480)aaA>aaT	p.K160N	HOXA3_ENST00000317201.2_Missense_Mutation_p.K160N|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	160					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTCGAGACTCTTTCATCCAGG	0.567																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0								ENSG00000105997						115	115	115					7																	27149780		2203	4300	6503	HOXA3	SO:0001583	missense	0			-	HGNC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.480A>T	7.37:g.27149780T>A	ENSP00000379640:p.Lys160Asn	Somatic	0	44	0		0.52429534266604	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	A4D181	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.K160N	ENST00000396352.4	37	c.480	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341969	0.61073	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	T;T	0.08282	3.11;3.11	5.83	-1.07	0.09968	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	M	0.89414	3.03	0.58432	D	0.999992	B	0.22541	0.071	B	0.15052	0.012	T	0.02991	-1.1085	10	0.87932	D	0	.	5.5913	0.17303	0.1132:0.2765:0.0:0.6102	.	160	O43365	HXA3_HUMAN	N	160;160;2	ENSP00000379640:K160N;ENSP00000324884:K160N	ENSP00000324884:K160N	K	-	3	2	HOXA3	27116305	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	1.536000	0.36072	-0.406000	0.07588	0.533000	0.62120	AAA	-	NULL		0.567	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	protein_coding	OTTHUMT00000358708.2	T		-		27149780	-1	no_errors	ENST00000317201	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27149780	T	A	27149780	3	1	196	1	0	0	0	0	1	0	0	0	7295	1606	56	5	859	5	HOXA3	7	27149780	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	27149780	131988883	963	14235	282	2									
NOD1	10392	genome.wustl.edu	37	chr7	30490912	30490912	+	Silent	SNP	G	G	A													ttgttgttgtctaggtctagGgccagccgcttggggaagtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:30490912G>A	ENST00000222823.4	-	6	2646	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	707					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTAGGTCTAGGGCCAGCCGCT	0.622																																																	0								ENSG00000106100						94	99	97					7																	30490912		2203	4300	6503	NOD1	SO:0001819	synonymous_variant	0			-	HGNC	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2121C>T	7.37:g.30490912G>A		Somatic	0	37	0		0.52429534266604	9	25	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	B4DTU3|Q549U4|Q8IWF5	Silent	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.A707	ENST00000222823.4	37	c.2121	CCDS5427.1	7																																																																																			-	NULL		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	G		-		30490912	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	silent	SNP	0.974	A	A	30490912	G	A	30490912	2	1	196	1	0	0	0	0	0	0	0	1	10518	1219	43	2		2	NOD1	7	30490912	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3341132	30490912	128647751	964	14236	283	2									
NOD1	10392	genome.wustl.edu	37	chr7	30490913	30490913	+	Missense_Mutation	SNP	G	G	A													tgttgttgtctaggtctaggGccagccgcttggggaagtga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:30490913G>A	ENST00000222823.4	-	6	2645	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	707					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TAGGTCTAGGGCCAGCCGCTT	0.622																																																	0								ENSG00000106100						95	100	98					7																	30490913		2203	4300	6503	NOD1	SO:0001583	missense	0			-	HGNC	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2120C>T	7.37:g.30490913G>A	ENSP00000222823:p.Ala707Val	Somatic	0	37	0		0.52429534266604	8	33.33	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.A707V	ENST00000222823.4	37	c.2120	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917385	0.52546	.	.	ENSG00000106100	ENST00000222823	T	0.51071	0.72	5.71	5.71	0.89125	.	0.101398	0.64402	D	0.000003	T	0.70168	0.3193	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.72456	-0.4288	10	0.66056	D	0.02	.	18.8558	0.92251	0.0:0.0:1.0:0.0	.	707	Q9Y239	NOD1_HUMAN	V	707	ENSP00000222823:A707V	ENSP00000222823:A707V	A	-	2	0	NOD1	30457438	1.000000	0.71417	0.693000	0.30195	0.079000	0.17450	4.721000	0.61951	2.709000	0.92574	0.655000	0.94253	GCC	-	NULL		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	G		-		30490913	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30490913	G	A	30490913	3	1	196	1	0	0	0	0	1	0	0	0	10518	1203	42	2	777	2	NOD1	7	30490913	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	30490913	128647750	965	14237	283	2									
PDE1C	5137	genome.wustl.edu	37	chr7	31877578	31877578	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttcaattaccaaggttcGaaactcccttttagagacaa	5	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:31877578G>A	ENST00000396191.1	-	10	1443	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.R330*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.R390*|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.R330*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.R330*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACCAAGGTTCGAAACTCCCTT	0.388																																																	0								ENSG00000154678						172	176	174					7																	31877578		2203	4300	6503	PDE1C	SO:0001587	stop_gained	0			-	HGNC	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.988C>T	7.37:g.31877578G>A	ENSP00000379494:p.Arg330*	Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R330*	ENST00000396191.1	37	c.988	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.236130	0.98154	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4	0.67037	0.0:0.0:0.8155:0.1845	.	.	.	.	X	390;330;330;330;330	.	ENSP00000318105:R330X	R	-	1	2	PDE1C	31844103	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.152000	0.64882	2.716000	0.92895	0.655000	0.94253	CGA	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.388	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	G		-		31877578	-1	no_errors	ENST00000321453	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	31877578	G	A	31877578	4	1	196	1	0	0	0	0	0	1	0	0	11637	1066	37	1	948	1	PDE1C	7	31877578	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1386665	31877578	127261085	966	14238											
FKBP9	11328	genome.wustl.edu	37	chr7	33016063	33016063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtgtgtgggtgagaagCgcatcatcaccattcctcct	12	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:33016063C>A	ENST00000242209.4	+	4	824	c.655C>A	c.(655-657)Cgc>Agc	p.R219S	FKBP9_ENST00000538443.1_Missense_Mutation_p.R81S|FKBP9_ENST00000538336.1_Missense_Mutation_p.R272S|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	219	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGTGAGAAGCGCATCATCAC	0.483																																																	0								ENSG00000122642						165	143	151					7																	33016063		2202	4286	6488	FKBP9	SO:0001583	missense	0			-	HGNC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.655C>A	7.37:g.33016063C>A	ENSP00000242209:p.Arg219Ser	Somatic	0	81	0		0.52429534266604	68	44.26	54	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	83	23.85	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.R272S	ENST00000242209.4	37	c.814	CCDS5439.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554495	0.86231	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	D;D;D	0.87571	-2.27;-2.27;-2.27	4.73	4.73	0.59995	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	M	0.81682	2.555	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	0.94427	0.7646	10	0.66056	D	0.02	-14.008	18.074	0.89422	0.0:1.0:0.0:0.0	.	272;219;219	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	S	219;272;81	ENSP00000242209:R219S;ENSP00000439250:R272S;ENSP00000437504:R81S	ENSP00000242209:R219S	R	+	1	0	FKBP9	32982588	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.960000	0.70348	2.341000	0.79615	0.455000	0.32223	CGC	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.483	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	protein_coding	OTTHUMT00000215137.1	C	NM_007270	-		33016063	1	no_errors	ENST00000538336	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33016063	C	A	33016063	3	1	196	1	0	0	0	0	1	0	0	0	5917	768	27	3	669	3	FKBP9	7	33016063	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1138485	33016063	126122600	967	14239											
EEPD1	80820	genome.wustl.edu	37	chr7	36338743	36338743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgaaaaggactggagcaaGaaggatgcccctcggaacgg	14	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:36338743G>A	ENST00000242108.4	+	8	2356	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	EEPD1_ENST00000534978.1_Silent_p.K546K	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	546					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACTGGAGCAAGAAGGATGCCC	0.572																																																	0								ENSG00000122547						84	71	76					7																	36338743		2203	4300	6503	EEPD1	SO:0001819	synonymous_variant	0			-	HGNC	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1638G>A	7.37:g.36338743G>A		Somatic	0	58	0		0.52429534266604	56	15.15	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	53	25.35	Q96K64|Q9C0F7	Silent	SNP							pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.K546	ENST00000242108.4	37	c.1638	CCDS34619.1	7																																																																																			-	superfamily_Endo/exonuclease/phosphatase		0.572	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	protein_coding	OTTHUMT00000337602.1	G	NM_030636	-		36338743	1	no_errors	ENST00000242108	ensembl	human	known	74_37	silent	SNP	1.000	A	A	36338743	G	A	36338743	2	1	196	1	0	0	0	0	0	0	0	1	4934	933	33	2		2	EEPD1	7	36338743	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3322680	36338743	122799920	968	14240											
POU6F2	11281	genome.wustl.edu	37	chr7	39491226	39491226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatccatgtctcaaagtcCcgtccggcaggcttcctctt	8	15	2	0	rs202234462		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:39491226C>T	ENST00000403058.1	+	9	1482	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	POU6F2_ENST00000518318.2_Missense_Mutation_p.P443L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P388L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	443	Gln-rich.|Ser-rich.				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)			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						TCTCAAAGTCCCGTCCGGCAG	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		17026	0		0	False		,,,				2504	0																0								ENSG00000106536						108	85	93					7																	39491226		2203	4300	6503	POU6F2	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.1328C>T	7.37:g.39491226C>T	ENSP00000384004:p.Pro443Leu	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	73	17.98	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP							pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P443L	ENST00000403058.1	37	c.1328	CCDS34620.2	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.84	3.901367	0.72754	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.87334	0.86;-2.24	5.7	5.7	0.88788	.	3.754190	0.00649	N	0.000554	D	0.91153	0.7214	L	0.27053	0.805	0.58432	D	0.999999	D	0.69078	0.997	P	0.60789	0.879	T	0.78758	-0.2079	10	0.56958	D	0.05	.	18.8293	0.92132	0.0:1.0:0.0:0.0	.	443	P78424	PO6F2_HUMAN	L	443	ENSP00000384004:P443L;ENSP00000430514:P443L	ENSP00000384004:P443L	P	+	2	0	POU6F2	39457751	1.000000	0.71417	0.998000	0.56505	1.000000	0.99986	5.560000	0.67332	2.683000	0.91414	0.655000	0.94253	CCC	-	NULL		0.552	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	protein_coding	OTTHUMT00000320146.3	C	NM_007252	rs202234462		39491226	1	no_errors	ENST00000403058	ensembl	human	known	74_37	missense	SNP	0.999	T	T	39491226	C	T	39491226	3	4	196	1	0	0	0	0	1	0	0	0	12287	623	22	2	1358	2	POU6F2	7	39491226	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3152483	39491226	119647437	969	14241											
YKT6	10652	genome.wustl.edu	37	chr7	44244217	44244217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgattgtggagcgctcatCgaaaggcactagagcttctg	12	9	2	2	rs141563755		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:44244217C>T	ENST00000223369.2	+	2	242	c.155C>T	c.(154-156)tCg>tTg	p.S52L	YKT6_ENST00000496112.1_Missense_Mutation_p.S52L|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	52	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GAGCGCTCATCGAAAGGCACT	0.483																																																	0								ENSG00000106636	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	136	118	124		155	2.5	0	7	dbSNP_134	124	0,8600		0,0,4300	no	missense	YKT6	NM_006555.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	52/199	44244217	1,13005	2203	4300	6503	YKT6	SO:0001583	missense	0			-	HGNC	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"R-SNARE"	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.155C>T	7.37:g.44244217C>T	ENSP00000223369:p.Ser52Leu	Somatic	0	73	0		0.52429534266604	148	17.32	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	89	18.35	B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP							pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin	p.S52L	ENST00000223369.2	37	c.155	CCDS5482.1	7	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664901	0.29604	2.27E-4	0.0	ENSG00000106636	ENST00000496112;ENST00000223369	T;T	0.24908	1.83;1.83	5.55	2.52	0.30459	Longin (2);Longin-like (1);	0.491127	0.23616	N	0.046285	T	0.22781	0.0550	L	0.58810	1.83	0.09310	N	1	B;B	0.19073	0.033;0.033	B;B	0.24006	0.05;0.022	T	0.12941	-1.0528	10	0.30078	T	0.28	-11.9865	7.4538	0.27255	0.2421:0.483:0.2749:0.0	.	52;52	B4DR94;O15498	.;YKT6_HUMAN	L	52	ENSP00000420805:S52L;ENSP00000223369:S52L	ENSP00000223369:S52L	S	+	2	0	YKT6	44210742	0.000000	0.05858	0.028000	0.17463	0.759000	0.43091	0.268000	0.18571	1.324000	0.45282	0.650000	0.86243	TCG	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.483	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YKT6	protein_coding	OTTHUMT00000251125.2	C	NM_006555	rs141563755		44244217	1	no_errors	ENST00000223369	ensembl	human	known	74_37	missense	SNP	0.040	T	T	44244217	C	T	44244217	3	4	196	1	0	0	0	0	1	0	0	0	17492	893	31	1	161	1	YKT6	7	44244217	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4752991	44244217	114894446	970	14242											
YKT6	10652	genome.wustl.edu	37	chr7	44244232	44244232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgaaaggcactagagCttctgtcaaagaacaaggta	9	9	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:44244232C>T	ENST00000223369.2	+	2	257	c.170C>T	c.(169-171)gCt>gTt	p.A57V	YKT6_ENST00000496112.1_Missense_Mutation_p.A57V|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	57	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GGCACTAGAGCTTCTGTCAAA	0.473																																																	0								ENSG00000106636						126	110	115					7																	44244232		2203	4300	6503	YKT6	SO:0001583	missense	0			-	HGNC	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"R-SNARE"	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.170C>T	7.37:g.44244232C>T	ENSP00000223369:p.Ala57Val	Somatic	0	64	0		0.52429534266604	128	23.21	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	98	10.91	B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP							pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin	p.A57V	ENST00000223369.2	37	c.170	CCDS5482.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971739	0.74246	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T;T	0.22539	1.95;1.95	5.55	5.55	0.83447	Longin (2);Longin-like (1);	0.100576	0.64402	D	0.000002	T	0.19127	0.0459	L	0.45285	1.41	0.80722	D	1	P;B	0.37398	0.593;0.364	B;B	0.29176	0.099;0.099	T	0.02251	-1.1188	10	0.62326	D	0.03	-9.6546	16.4348	0.83872	0.0:1.0:0.0:0.0	.	57;57	B4DR94;O15498	.;YKT6_HUMAN	V	57	ENSP00000420805:A57V;ENSP00000223369:A57V	ENSP00000223369:A57V	A	+	2	0	YKT6	44210757	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.860000	0.75473	2.615000	0.88500	0.650000	0.86243	GCT	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.473	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YKT6	protein_coding	OTTHUMT00000251125.2	C	NM_006555	-		44244232	1	no_errors	ENST00000223369	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44244232	C	T	44244232	3	4	196	1	0	0	0	0	1	0	0	0	17492	797	28	2	176	2	YKT6	7	44244232	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	15	44244232	114894431	971	14243											
ZMIZ2	83637	genome.wustl.edu	37	chr7	44802946	44802946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagctatcaaggtgtccctGaagtgccccatcaccttccg	8	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:44802946G>A	ENST00000309315.4	+	13	1917	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L	ZMIZ2_ENST00000413916.1_Silent_p.L540L|ZMIZ2_ENST00000441627.1_Silent_p.L598L|ZMIZ2_ENST00000433667.1_Silent_p.L566L|ZMIZ2_ENST00000265346.7_Silent_p.L572L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	598					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGGTGTCCCTGAAGTGCCCCA	0.592																																					NSCLC(20;604 852 1948 16908 50522)												0								ENSG00000122515						102	114	110					7																	44802946		2190	4298	6488	ZMIZ2	SO:0001819	synonymous_variant	0			-	HGNC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1794G>A	7.37:g.44802946G>A		Somatic	0	37	0		0.52429534266604	60	14.29	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP							pfam_Znf_MIZ,pfscan_Znf_MIZ	p.L598	ENST00000309315.4	37	c.1794	CCDS43576.1	7																																																																																			-	pfam_Znf_MIZ,pfscan_Znf_MIZ		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	protein_coding	OTTHUMT00000341790.1	G	NM_031449	-		44802946	1	no_errors	ENST00000309315	ensembl	human	known	74_37	silent	SNP	0.999	A	A	44802946	G	A	44802946	2	1	196	1	0	0	0	0	0	0	0	1	17704	1277	45	2		2	ZMIZ2	7	44802946	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	558714	44802946	114335717	972	14244											
ABCA13	154664	genome.wustl.edu	37	chr7	48414002	48414002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttattacattcctggaagGacaagagacaggtaagagca	10	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:48414002G>A	ENST00000435803.1	+	34	11216	c.11192G>A	c.(11191-11193)gGa>gAa	p.G3731E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3731					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCTGGAAGGACAAGAGACA	0.403																																																	0								ENSG00000179869						84	79	80					7																	48414002		1898	4113	6011	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11192G>A	7.37:g.48414002G>A	ENSP00000411096:p.Gly3731Glu	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	79	11.24	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G3731E	ENST00000435803.1	37	c.11192	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936589	0.52972	.	.	ENSG00000179869	ENST00000435803	T	0.81415	-1.49	5.51	4.62	0.57501	.	0.000000	0.49916	D	0.000121	T	0.79776	0.4504	N	0.16166	0.38	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71414	0.944;0.973	T	0.78254	-0.2275	10	0.26408	T	0.33	.	14.2489	0.66007	0.0:0.1484:0.8516:0.0	.	1433;3731	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	E	3731	ENSP00000411096:G3731E	ENSP00000411096:G3731E	G	+	2	0	ABCA13	48384548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.143000	0.50608	1.444000	0.47605	0.655000	0.94253	GGA	-	NULL		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48414002	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48414002	G	A	48414002	3	1	196	1	0	0	0	0	1	0	0	0	31	1174	41	2	11155	2	ABCA13	7	48414002	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3611056	48414002	110724661	973	14245											
POM121L12	285877	genome.wustl.edu	37	chr7	53104211	53104211	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcagtagggtctccTtcgccctcgaggtcacccag	12	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:53104211T>A	ENST00000408890.4	+	1	863	c.847T>A	c.(847-849)Ttc>Atc	p.F283I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	283										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TAGGGTCTCCTTCGCCCTCGA	0.622																																																	0								ENSG00000221900						43	48	46					7																	53104211		2000	4173	6173	POM121L12	SO:0001583	missense	0			-	HGNC		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.847T>A	7.37:g.53104211T>A	ENSP00000386133:p.Phe283Ile	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	23.81	Q8NDI9	Missense_Mutation	SNP							NULL	p.F283I	ENST00000408890.4	37	c.847	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686496	0.29962	.	.	ENSG00000221900	ENST00000408890	T	0.24350	1.86	2.16	-0.422	0.12329	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.30316	0.114	T	0.19418	-1.0306	9	0.87932	D	0	.	1.8415	0.03150	0.2745:0.1705:0.0:0.555	.	283	Q8N7R1	P1L12_HUMAN	I	283	ENSP00000386133:F283I	ENSP00000386133:F283I	F	+	1	0	POM121L12	53071705	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.568000	0.02144	-0.089000	0.12484	0.459000	0.35465	TTC	-	NULL		0.622	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	protein_coding	OTTHUMT00000342656.1	T	NM_182595	-		53104211	1	no_errors	ENST00000408890	ensembl	human	known	74_37	missense	SNP	0.000	A	A	53104211	T	A	53104211	3	1	196	1	0	0	0	0	1	0	0	0	12243	1609	56	5	849	5	POM121L12	7	53104211	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	4690209	53104211	106034452	974	14246											
EGFR	1956	genome.wustl.edu	37	chr7	55242452	55242452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagaaagttaaaattcCcgtcgctatcaaggaattaa	9	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:55242452C>T	ENST00000275493.2	+	19	2399	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.P696L|EGFR_ENST00000454757.2_Missense_Mutation_p.P688L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.P741L(3)		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)	GTTAAAATTCCCGTCGCTATC	0.483		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													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"	3	Substitution - Missense(3)	central_nervous_system(2)|skin(1)						ENSG00000146648						107	105	105					7																	55242452		2203	4300	6503	EGFR	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	-	HGNC		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.2222C>T	7.37:g.55242452C>T	ENSP00000275493:p.Pro741Leu	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	40	45.95	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P741L	ENST00000275493.2	37	c.2222	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034482	0.93575	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82433	-1.61;-1.61;-1.61	5.67	5.67	0.87782	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	0.87881	0.6289	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.936;1.0	D	0.88767	0.3261	10	0.87932	D	0	.	18.3264	0.90255	0.0:1.0:0.0:0.0	.	696;741	Q504U8;P00533	.;EGFR_HUMAN	L	696;611;741;688	ENSP00000415559:P696L;ENSP00000275493:P741L;ENSP00000395243:P688L	ENSP00000275493:P741L	P	+	2	0	EGFR	55209946	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	5.888000	0.69758	2.676000	0.91093	0.561000	0.74099	CCC	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.483	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	protein_coding	OTTHUMT00000251456.2	C	NM_005228	-		55242452	1	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55242452	C	T	55242452	3	4	196	1	0	0	0	0	1	0	0	0	4969	623	22	2	2560	2	EGFR	7	55242452	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2138241	55242452	103896211	975	14247											
ZNF679	168417	genome.wustl.edu	37	chr7	63726669	63726669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgcggcaaaCccttcaactgctcttcaacc	7	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:63726669C>T	ENST00000421025.1	+	5	927	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ZNF679_ENST00000255746.4_Missense_Mutation_p.P220S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	220					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(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGCGGCAAACCCTTCAACTG	0.383																																																	0								ENSG00000197123						62	63	62					7																	63726669		692	1591	2283	ZNF679	SO:0001583	missense	0			-	HGNC	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.658C>T	7.37:g.63726669C>T	ENSP00000416809:p.Pro220Ser	Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.96		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P220S	ENST00000421025.1	37	c.658	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	C	2.740	-0.262429	0.05791	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00801	5.68;5.68	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00271	0.0008	N	0.00072	-2.265	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46205	-0.9208	9	0.44086	T	0.13	.	2.2236	0.03979	0.3217:0.3552:0.3232:0.0	.	220	Q8IYX0	ZN679_HUMAN	S	220	ENSP00000416809:P220S;ENSP00000255746:P220S	ENSP00000255746:P220S	P	+	1	0	ZNF679	63364104	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	-0.552000	0.06020	0.191000	0.20236	0.194000	0.17425	CCC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	protein_coding	OTTHUMT00000344317.2	C	NM_153363	-		63726669	1	no_errors	ENST00000255746	ensembl	human	known	74_37	missense	SNP	0.006	T	T	63726669	C	T	63726669	3	4	196	1	0	0	0	0	1	0	0	0	18093	507	18	2	672	2	ZNF679	7	63726669	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8484217	63726669	95411994	976	14248											
CLIP2	7461	genome.wustl.edu	37	chr7	73770747	73770747	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttccacaggtacttcCagtgcccacccaagtttggt	8	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:73770747C>T	ENST00000395060.1	+	4	811	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	CLIP2_ENST00000223398.6_Nonsense_Mutation_p.Q271*|CLIP2_ENST00000361545.5_Nonsense_Mutation_p.Q271*			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	271	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					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						CAGGTACTTCCAGTGCCCACC	0.587																																																	0								ENSG00000106665						111	96	101					7																	73770747		2203	4300	6503	CLIP2	SO:0001587	stop_gained	0			-	HGNC	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.811C>T	7.37:g.73770747C>T	ENSP00000378500:p.Gln271*	Somatic	0	72	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	97	17.80	O14527|O43611	Nonsense_Mutation	SNP							pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.Q271*	ENST00000395060.1	37	c.811	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.614821	0.97705	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-51.9321	17.2521	0.87045	0.0:1.0:0.0:0.0	.	.	.	.	X	271	.	ENSP00000223398:Q271X	Q	+	1	0	CLIP2	73408683	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.333000	0.79214	2.644000	0.89710	0.561000	0.74099	CAG	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain		0.587	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	C	NM_003388	-		73770747	1	no_errors	ENST00000223398	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	73770747	C	T	73770747	4	4	196	1	0	0	0	0	0	1	0	0	3535	595	21	2	825	2	CLIP2	7	73770747	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	10044078	73770747	85367916	977	14249											
SRRM3	222183	genome.wustl.edu	37	chr7	75889235	75889235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccggcagtgtggcggagaCcccgcggctgaccgagggcg	19	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:75889235C>T	ENST00000326382.8	+	4	554	c.347C>T	c.(346-348)aCc>aTc	p.T116I	SRRM3_ENST00000388802.4_Missense_Mutation_p.T116I	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	116										NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GTGGCGGAGACCCCGCGGCTG	0.692																																																	0								ENSG00000177679						23	28	27					7																	75889235		1530	3532	5062	SRRM3	SO:0001583	missense	0			-	HGNC	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.347C>T	7.37:g.75889235C>T	ENSP00000325298:p.Thr116Ile	Somatic	0	95	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	135	20.12	A6ND75	Missense_Mutation	SNP							pfam_mRNA_splic_Cwf21	p.T116I	ENST00000326382.8	37	c.347		7	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436972	0.43224	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	.	.	.	3.52	2.54	0.30619	.	0.291449	0.23945	N	0.043013	T	0.28797	0.0714	L	0.50333	1.59	0.24786	N	0.992788	P	0.49185	0.92	B	0.40901	0.343	T	0.26292	-1.0107	9	0.87932	D	0	-16.1351	6.7666	0.23571	0.1914:0.6205:0.1881:0.0	.	116	A6NNA2	SRRM3_HUMAN	I	116	.	ENSP00000325298:T116I	T	+	2	0	SRRM3	75727171	0.995000	0.38212	0.998000	0.56505	0.580000	0.36256	1.476000	0.35420	1.693000	0.51124	0.555000	0.69702	ACC	-	NULL		0.692	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	protein_coding	OTTHUMT00000252889.2	C	NM_001110199	-		75889235	1	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	SNP	0.988	T	T	75889235	C	T	75889235	3	4	196	1	0	0	0	0	1	0	0	0	15177	507	18	2	357	2	SRRM3	7	75889235	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2118488	75889235	83249428	978	14250											
DTX2	113878	genome.wustl.edu	37	chr7	76109854	76109854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccccaagcccttccctgGtgcaggtgtacaccagcccc	10	18	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76109854G>A	ENST00000324432.5	+	4	538	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	DTX2_ENST00000430490.2_Missense_Mutation_p.V10M|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000413936.2_Missense_Mutation_p.V10M|DTX2_ENST00000307569.8_Missense_Mutation_p.V10M|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446820.2_Missense_Mutation_p.V10M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	10	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCTTCCCTGGTGCAGGTGTA	0.657																																																	0								ENSG00000091073						23	23	23					7																	76109854		2202	4296	6498	DTX2	SO:0001583	missense	0			-	HGNC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.28G>A	7.37:g.76109854G>A	ENSP00000322885:p.Val10Met	Somatic	0	68	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	65	33.67	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP							pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.V10M	ENST00000324432.5	37	c.28	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	9.560	1.118336	0.20877	.	.	ENSG00000091073	ENST00000425780;ENST00000456590;ENST00000451769;ENST00000324432;ENST00000307569;ENST00000457529;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000442516;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T	0.45668	2.69;2.68;2.69;0.89;2.69;0.91;2.68	5.35	2.21	0.28008	WWE domain (1);	0.399046	0.27549	N	0.018876	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;P	0.34837	0.415;0.472	B;B	0.34301	0.179;0.166	T	0.13548	-1.0505	10	0.36615	T	0.2	-4.8237	14.0673	0.64839	0.0:0.454:0.546:0.0	.	10;10	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	M	10	ENSP00000322885:V10M;ENSP00000305242:V10M;ENSP00000390218:V10M;ENSP00000415838:V10M;ENSP00000411986:V10M;ENSP00000403342:V10M;ENSP00000392545:V10M	ENSP00000305242:V10M	V	+	1	0	AC005522.1	75947790	0.443000	0.25641	0.992000	0.48379	0.756000	0.42949	0.537000	0.23144	0.686000	0.31488	0.563000	0.77884	GTG	-	pfscan_WWE-dom		0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	protein_coding	OTTHUMT00000253104.2	G		-		76109854	1	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	SNP	0.106	A	A	76109854	G	A	76109854	3	1	196	1	0	0	0	0	1	0	0	0	4796	1261	44	2	30	2	DTX2	7	76109854	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	220619	76109854	83028809	979	14251											
DTX2	113878	genome.wustl.edu	37	chr7	76110035	76110035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgggccaggcagaccCctcgctggccccttacatta	9	18	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76110035C>T	ENST00000324432.5	+	4	719	c.209C>T	c.(208-210)cCc>cTc	p.P70L	DTX2_ENST00000430490.2_Missense_Mutation_p.P70L|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000413936.2_Missense_Mutation_p.P70L|DTX2_ENST00000307569.8_Missense_Mutation_p.P70L|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446820.2_Missense_Mutation_p.P70L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	70	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAGGCAGACCCCTCGCTGGCC	0.617																																																	0								ENSG00000091073						24	25	25					7																	76110035		2202	4300	6502	DTX2	SO:0001583	missense	0			-	HGNC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.209C>T	7.37:g.76110035C>T	ENSP00000322885:p.Pro70Leu	Somatic	0	64	0		0.52429534266604	9	30.77	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP							pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.P70L	ENST00000324432.5	37	c.209	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	20.9	4.058911	0.76074	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.68	5.68	0.88126	WWE domain (2);WWE domain, subgroup (1);	0.055850	0.64402	D	0.000001	T	0.55257	0.1909	M	0.79475	2.455	0.80722	D	1	P;P	0.47604	0.898;0.727	B;P	0.46940	0.426;0.532	T	0.60177	-0.7314	10	0.56958	D	0.05	-31.0474	18.7607	0.91849	0.0:1.0:0.0:0.0	.	70;70	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	L	70	ENSP00000322885:P70L;ENSP00000305242:P70L;ENSP00000390218:P70L;ENSP00000415838:P70L;ENSP00000387894:P70L;ENSP00000411986:P70L;ENSP00000403342:P70L;ENSP00000399639:P70L;ENSP00000392545:P70L	ENSP00000305242:P70L	P	+	2	0	AC005522.1	75947971	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.452000	0.80683	2.682000	0.91365	0.563000	0.77884	CCC	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom		0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	protein_coding	OTTHUMT00000253104.2	C		-		76110035	1	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76110035	C	T	76110035	3	4	196	1	0	0	0	0	1	0	0	0	4796	623	22	2	211	2	DTX2	7	76110035	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	181	76110035	83028628	980	14252											
DTX2	113878	genome.wustl.edu	37	chr7	76112410	76112410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctaccgctccagcctctCccacctgggaccgcagcacc	7	22	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76112410C>T	ENST00000324432.5	+	5	1364	c.854C>T	c.(853-855)tCc>tTc	p.S285F	DTX2_ENST00000430490.2_Missense_Mutation_p.S285F|DTX2_ENST00000446600.1_Missense_Mutation_p.S194F|DTX2_ENST00000413936.2_Missense_Mutation_p.S285F|DTX2_ENST00000307569.8_Missense_Mutation_p.S285F|DTX2_ENST00000446820.2_Missense_Mutation_p.S285F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	285					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCCAGCCTCTCCCACCTGGGA	0.692																																																	0								ENSG00000091073						23	27	26					7																	76112410		2144	4202	6346	DTX2	SO:0001583	missense	0			-	HGNC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.854C>T	7.37:g.76112410C>T	ENSP00000322885:p.Ser285Phe	Somatic	0	19	0		0.52429534266604	17	39.29	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP							pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S285F	ENST00000324432.5	37	c.854	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	17.23	3.337515	0.60963	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.13089	2.63;2.62;2.63;2.63;2.63;2.62	4.79	2.89	0.33648	.	0.822631	0.10881	N	0.623769	T	0.23133	0.0559	L	0.46157	1.445	0.33083	D	0.536847	D;D;D	0.65815	0.995;0.989;0.981	P;P;P	0.59643	0.861;0.73;0.635	T	0.27640	-1.0068	10	0.62326	D	0.03	-19.8504	5.5984	0.17339	0.1949:0.7015:0.0:0.1036	.	194;285;285	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	F	285;285;194;194;285;285;285	ENSP00000322885:S285F;ENSP00000305242:S285F;ENSP00000397648:S194F;ENSP00000390218:S285F;ENSP00000411986:S285F;ENSP00000392545:S285F	ENSP00000305242:S285F	S	+	2	0	AC005522.1	75950346	0.977000	0.34250	1.000000	0.80357	0.981000	0.71138	2.080000	0.41586	0.398000	0.25338	0.561000	0.74099	TCC	-	NULL		0.692	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	protein_coding	OTTHUMT00000253104.2	C		-		76112410	1	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	SNP	0.997	T	T	76112410	C	T	76112410	3	4	196	1	0	0	0	0	1	0	0	0	4796	855	30	2	860	2	DTX2	7	76112410	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2375	76112410	83026253	981	14253											
PION	54103	genome.wustl.edu	37	chr7	76941247	76941247	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgatgacttgttaatcataGaattccgaggctaaaaggga	10	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76941247G>A	ENST00000257626.7	-	30	2462	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F	GSAP_ENST00000441833.2_Missense_Mutation_p.S116F|GSAP_ENST00000440473.1_5'Flank	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	795					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GTTAATCATAGAATTCCGAGG	0.358																																																	0								ENSG00000186088						67	64	65					7																	76941247		1850	4086	5936	GSAP	SO:0001583	missense	0			-	HGNC		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2384C>T	7.37:g.76941247G>A	ENSP00000257626:p.Ser795Phe	Somatic	0	47	0		0.52429534266604	73	15.12	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP							NULL	p.S795F	ENST00000257626.7	37	c.2384	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287525	0.59976	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.19394	2.15	5.2	5.2	0.72013	.	0.429826	0.25578	N	0.029702	T	0.26666	0.0652	L	0.51422	1.61	0.09310	N	0.999998	P	0.50443	0.935	P	0.46543	0.52	T	0.12091	-1.0561	10	0.52906	T	0.07	.	14.4309	0.67249	0.0:0.0:1.0:0.0	.	795	A4D1B5	GSAP_HUMAN	F	795;116	ENSP00000257626:S795F	ENSP00000257626:S795F	S	-	2	0	PION	76779183	0.840000	0.29493	0.113000	0.21522	0.966000	0.64601	3.817000	0.55668	2.868000	0.98415	0.555000	0.69702	TCT	-	NULL		0.358	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	protein_coding	OTTHUMT00000318672.2	G	NM_017439	-		76941247	-1	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	SNP	0.083	A	A	76941247	G	A	76941247	3	1	196	1	0	0	0	0	1	0	0	0	11936	942	33	2	188	2	PION	7	76941247	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	828837	76941247	82197416	982	14254											
PCLO	27445	genome.wustl.edu	37	chr7	82387942	82387942	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccagttgactattctTtttctgagatccactttgtc	7	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82387942T>G	ENST00000333891.9	-	25	15715	c.15378A>C	c.(15376-15378)aaA>aaC	p.K5126N		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						TGACTATTCTTTTTCTGAGAT	0.378																																																	0								ENSG00000186472						241	229	233					7																	82387942		1839	4084	5923	PCLO	SO:0001583	missense	0			-	HGNC	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.15378A>C	7.37:g.82387942T>G	ENSP00000334319:p.Lys5126Asn	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	49	33.78		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.K5126N	ENST00000333891.9	37	c.15378	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614557	0.46631	.	.	ENSG00000186472	ENST00000333891	T	0.07908	3.15	5.51	5.51	0.81932	.	0.000000	0.46442	U	0.000290	T	0.15609	0.0376	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02491	-1.1151	10	0.87932	D	0	.	10.0426	0.42166	0.0:0.0752:0.0:0.9248	.	5126	Q9Y6V0-5	.	N	5126	ENSP00000334319:K5126N	ENSP00000334319:K5126N	K	-	3	2	PCLO	82225878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.864000	0.56024	2.100000	0.63781	0.477000	0.44152	AAA	-	superfamily_C2_dom,smart_C2_dom		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	T	NM_014510	-		82387942	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	G	G	82387942	T	G	82387942	3	3	196	1	0	0	0	0	1	0	0	0	11585	1838	64	5	54	5	PCLO	7	82387942	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	5446695	82387942	76750721	983	14255											
PCLO	27445	genome.wustl.edu	37	chr7	82538309	82538309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatcaaaccaatctgtttCctcacgacgcagatgatagg	7	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82538309C>T	ENST00000333891.9	-	8	13658	c.13321G>A	c.(13321-13323)Gaa>Aaa	p.E4441K	PCLO_ENST00000423517.2_Missense_Mutation_p.E4441K	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						CAATCTGTTTCCTCACGACGC	0.458																																																	0								ENSG00000186472						96	86	89					7																	82538309		1931	4146	6077	PCLO	SO:0001583	missense	0			-	HGNC	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.13321G>A	7.37:g.82538309C>T	ENSP00000334319:p.Glu4441Lys	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	51	40.70		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E4441K	ENST00000333891.9	37	c.13321	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803257	0.70682	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.33654	1.4;1.41	5.39	5.39	0.77823	.	.	.	.	.	T	0.61578	0.2358	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.64711	-0.6343	9	0.87932	D	0	.	19.5274	0.95212	0.0:1.0:0.0:0.0	.	4441;4441	Q9Y6V0-5;Q9Y6V0-6	.;.	K	4441	ENSP00000334319:E4441K;ENSP00000388393:E4441K	ENSP00000334319:E4441K	E	-	1	0	PCLO	82376245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.699000	0.92147	0.591000	0.81541	GAA	-	NULL		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82538309	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82538309	C	T	82538309	3	4	196	1	0	0	0	0	1	0	0	0	11585	864	30	2	2196	2	PCLO	7	82538309	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	150367	82538309	76600354	984	14256											
PCLO	27445	genome.wustl.edu	37	chr7	82544878	82544878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatgagaaagaccagcaaGgtgatctaagctctctgtcc	9	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82544878G>A	ENST00000333891.9	-	7	12761	c.12424C>T	c.(12424-12426)Ctt>Ttt	p.L4142F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4142F|PCLO_ENST00000437081.1_Missense_Mutation_p.L862F	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						AGACCAGCAAGGTGATCTAAG	0.413																																																	0								ENSG00000186472						132	123	126					7																	82544878		1891	4114	6005	PCLO	SO:0001583	missense	0			-	HGNC	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.12424C>T	7.37:g.82544878G>A	ENSP00000334319:p.Leu4142Phe	Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.L4142F	ENST00000333891.9	37	c.12424	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927772	0.34002	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18810	2.19;2.19	5.57	5.57	0.84162	.	.	.	.	.	T	0.45418	0.1341	M	0.66939	2.045	0.50171	D	0.999857	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.37337	-0.9710	9	0.87932	D	0	.	14.7801	0.69760	0.071:0.0:0.929:0.0	.	4073;4142;4142	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	4142;4142;862	ENSP00000334319:L4142F;ENSP00000388393:L4142F	ENSP00000334319:L4142F	L	-	1	0	PCLO	82382814	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.788000	0.55446	2.614000	0.88457	0.557000	0.71058	CTT	-	NULL		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82544878	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82544878	G	A	82544878	3	1	196	1	0	0	0	0	1	0	0	0	11585	1000	35	2	3097	2	PCLO	7	82544878	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6569	82544878	76593785	985	14257											
PCLO	27445	genome.wustl.edu	37	chr7	82545983	82545983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttgcagactccctttcCacaagatcaagctctctgtc	6	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82545983C>T	ENST00000333891.9	-	7	11656	c.11319G>A	c.(11317-11319)gtG>gtA	p.V3773V	PCLO_ENST00000423517.2_Silent_p.V3773V|PCLO_ENST00000437081.1_Silent_p.V493V	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						ACTCCCTTTCCACAAGATCAA	0.448																																																	0								ENSG00000186472						125	112	116					7																	82545983		1901	4135	6036	PCLO	SO:0001819	synonymous_variant	0			-	HGNC	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.11319G>A	7.37:g.82545983C>T		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78		Silent	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V3773	ENST00000333891.9	37	c.11319	CCDS47630.1	7																																																																																			-	NULL		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82545983	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	SNP	0.616	T	T	82545983	C	T	82545983	2	4	196	1	0	0	0	0	0	0	0	1	11585	581	21	2		2	PCLO	7	82545983	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1105	82545983	76592680	986	14258											
PCLO	27445	genome.wustl.edu	37	chr7	82546087	82546087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccattgtgctgaatgTggattgagttcctgtggaaa	13	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82546087T>G	ENST00000333891.9	-	7	11552	c.11215A>C	c.(11215-11217)Aca>Cca	p.T3739P	PCLO_ENST00000423517.2_Missense_Mutation_p.T3739P|PCLO_ENST00000437081.1_Missense_Mutation_p.T459P	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						GTGCTGAATGTGGATTGAGTT	0.463																																																	0								ENSG00000186472						137	122	126					7																	82546087		1871	4129	6000	PCLO	SO:0001583	missense	0			-	HGNC	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.11215A>C	7.37:g.82546087T>G	ENSP00000334319:p.Thr3739Pro	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	26	55.17		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T3739P	ENST00000333891.9	37	c.11215	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	9.078	0.998526	0.19121	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15139	2.45;2.45	5.71	0.723	0.18231	.	.	.	.	.	T	0.08714	0.0216	N	0.10874	0.06	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.31052	-0.9957	9	0.87932	D	0	.	6.2758	0.20979	0.0:0.3599:0.2352:0.4049	.	3670;3739;3739	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	P	3739;3739;459	ENSP00000334319:T3739P;ENSP00000388393:T3739P	ENSP00000334319:T3739P	T	-	1	0	PCLO	82384023	0.002000	0.14202	0.012000	0.15200	0.902000	0.53008	0.186000	0.16978	0.126000	0.18424	0.460000	0.39030	ACA	-	NULL		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	T	NM_014510	-		82546087	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.003	G	G	82546087	T	G	82546087	3	3	196	1	0	0	0	0	1	0	0	0	11585	1696	59	5	4306	5	PCLO	7	82546087	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	104	82546087	76592576	987	14259											
PCLO	27445	genome.wustl.edu	37	chr7	82584268	82584268	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattttctgcataggatcttCataaatctgttctgaaagtc	6	7	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82584268C>T	ENST00000333891.9	-	5	6338	c.6001G>A	c.(6001-6003)Gaa>Aaa	p.E2001K	PCLO_ENST00000423517.2_Missense_Mutation_p.E2001K	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						ATAGGATCTTCATAAATCTGT	0.373																																																	0								ENSG00000186472						114	117	117					7																	82584268		1837	4078	5915	PCLO	SO:0001583	missense	0			-	HGNC	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.6001G>A	7.37:g.82584268C>T	ENSP00000334319:p.Glu2001Lys	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	17	51.43		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E2001K	ENST00000333891.9	37	c.6001	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915499	0.33815	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21543	2.0;2.01	5.77	5.77	0.91146	.	.	.	.	.	T	0.19765	0.0475	L	0.40543	1.245	0.80722	D	1	P;P	0.38504	0.493;0.634	B;B	0.36766	0.232;0.232	T	0.01448	-1.1352	9	0.87932	D	0	.	13.2299	0.59936	0.0:0.9275:0.0:0.0725	.	2001;2001	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1932;2001;2001	ENSP00000334319:E2001K;ENSP00000388393:E2001K	ENSP00000334319:E2001K	E	-	1	0	PCLO	82422204	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.066000	0.71185	2.729000	0.93468	0.655000	0.94253	GAA	-	NULL		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82584268	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82584268	C	T	82584268	3	4	196	1	0	0	0	0	1	0	0	0	11585	835	29	2	9528	2	PCLO	7	82584268	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	38181	82584268	76554395	988	14260											
PCLO	27445	genome.wustl.edu	37	chr7	82584369	82584369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagactgccatctaccgatCcattgtacgtgtcttctact	7	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82584369C>T	ENST00000333891.9	-	5	6237	c.5900G>A	c.(5899-5901)gGa>gAa	p.G1967E	PCLO_ENST00000423517.2_Missense_Mutation_p.G1967E	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						ATCTACCGATCCATTGTACGT	0.368																																																	0								ENSG00000186472						105	105	105					7																	82584369		1864	4097	5961	PCLO	SO:0001583	missense	0			-	HGNC	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.5900G>A	7.37:g.82584369C>T	ENSP00000334319:p.Gly1967Glu	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.G1967E	ENST00000333891.9	37	c.5900	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	1.457	-0.563400	0.03939	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15603	2.41;2.41	5.57	4.6	0.57074	.	.	.	.	.	T	0.16514	0.0397	L	0.51422	1.61	0.80722	D	1	B;B	0.31548	0.091;0.328	B;B	0.28011	0.039;0.085	T	0.02736	-1.1117	9	0.87932	D	0	.	10.6136	0.45436	0.1427:0.7836:0.0:0.0737	.	1967;1967	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1898;1967;1967	ENSP00000334319:G1967E;ENSP00000388393:G1967E	ENSP00000334319:G1967E	G	-	2	0	PCLO	82422305	0.016000	0.18221	1.000000	0.80357	0.163000	0.22366	0.978000	0.29488	2.619000	0.88677	0.655000	0.94253	GGA	-	NULL		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82584369	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.904	T	T	82584369	C	T	82584369	3	4	196	1	0	0	0	0	1	0	0	0	11585	855	30	2	9629	2	PCLO	7	82584369	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	101	82584369	76554294	989	14261											
PCLO	27445	genome.wustl.edu	37	chr7	82585020	82585020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgttgctgtttgctctctCcttttttgtgactcgggcta	10	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82585020C>T	ENST00000333891.9	-	5	5586	c.5249G>A	c.(5248-5250)gGa>gAa	p.G1750E	PCLO_ENST00000423517.2_Missense_Mutation_p.G1750E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G1750E(2)|p.G1681E(1)		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						TTTGCTCTCTCCTTTTTTGTG	0.473																																																	3	Substitution - Missense(3)	lung(3)						ENSG00000186472						151	143	145					7																	82585020		1992	4190	6182	PCLO	SO:0001583	missense	0			-	HGNC	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.5249G>A	7.37:g.82585020C>T	ENSP00000334319:p.Gly1750Glu	Somatic	0	71	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	82	15.46		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.G1750E	ENST00000333891.9	37	c.5249	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146264	0.37923	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.39	5.65	5.65	0.86999	.	.	.	.	.	T	0.28764	0.0713	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.18681	-1.0329	9	0.87932	D	0	.	19.7408	0.96230	0.0:1.0:0.0:0.0	.	1750;1750	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1681;1750;1750	ENSP00000334319:G1750E;ENSP00000388393:G1750E	ENSP00000334319:G1750E	G	-	2	0	PCLO	82422956	0.950000	0.32346	1.000000	0.80357	0.985000	0.73830	3.115000	0.50391	2.671000	0.90904	0.650000	0.86243	GGA	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82585020	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82585020	C	T	82585020	3	4	196	1	0	0	0	0	1	0	0	0	11585	855	30	2	10280	2	PCLO	7	82585020	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	651	82585020	76553643	990	14262											
PCLO	27445	genome.wustl.edu	37	chr7	82586232	82586232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgagaacttgaggtgtctGatttgtcatcttccttttcc	9	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82586232G>A	ENST00000333891.9	-	5	4374	c.4037C>T	c.(4036-4038)tCa>tTa	p.S1346L	PCLO_ENST00000423517.2_Missense_Mutation_p.S1346L	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						TGAGGTGTCTGATTTGTCATC	0.413																																																	0								ENSG00000186472						43	41	41					7																	82586232		1863	4095	5958	PCLO	SO:0001583	missense	0			-	HGNC	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.4037C>T	7.37:g.82586232G>A	ENSP00000334319:p.Ser1346Leu	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	42	37.31		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S1346L	ENST00000333891.9	37	c.4037	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562326	0.45694	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.67	5.67	0.87782	.	.	.	.	.	T	0.42585	0.1209	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.21759	-1.0236	9	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1346;1346	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1277;1346;1346	ENSP00000334319:S1346L;ENSP00000388393:S1346L	ENSP00000334319:S1346L	S	-	2	0	PCLO	82424168	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.124000	0.77185	2.659000	0.90383	0.655000	0.94253	TCA	-	NULL		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82586232	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82586232	G	A	82586232	3	1	196	1	0	0	0	0	1	0	0	0	11585	1294	45	2	11492	2	PCLO	7	82586232	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1212	82586232	76552431	991	14263											
PCLO	27445	genome.wustl.edu	37	chr7	82763807	82763807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctttttttctgtttctgttCtttttactgttggagcttgt	8	6	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82763807C>T	ENST00000333891.9	-	3	3396	c.3059G>A	c.(3058-3060)aGa>aAa	p.R1020K	PCLO_ENST00000423517.2_Missense_Mutation_p.R1020K	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						TGTTTCTGTTCTTTTTACTGT	0.433																																																	0								ENSG00000186472						86	84	85					7																	82763807		1837	4083	5920	PCLO	SO:0001583	missense	0			-	HGNC	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.3059G>A	7.37:g.82763807C>T	ENSP00000334319:p.Arg1020Lys	Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	83	17.82		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R1020K	ENST00000333891.9	37	c.3059	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320724	0.23994	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.75477	-0.94;-0.94	6.0	2.13	0.27403	.	.	.	.	.	T	0.51652	0.1687	N	0.08118	0	0.54753	D	0.999984	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.38887	-0.9640	9	0.87932	D	0	.	6.917	0.24365	0.1248:0.6816:0.0:0.1936	.	1020;1020	Q9Y6V0-5;Q9Y6V0-6	.;.	K	966;1020;1020	ENSP00000334319:R1020K;ENSP00000388393:R1020K	ENSP00000334319:R1020K	R	-	2	0	PCLO	82601743	0.446000	0.25665	0.974000	0.42286	0.830000	0.47004	0.883000	0.28200	0.110000	0.17919	-0.140000	0.14226	AGA	-	superfamily_Znf_FYVE_PHD		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82763807	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.854	T	T	82763807	C	T	82763807	3	4	196	1	0	0	0	0	1	0	0	0	11585	913	32	2	12478	2	PCLO	7	82763807	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	177575	82763807	76374856	992	14264											
CROT	54677	genome.wustl.edu	37	chr7	86998740	86998740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtagtgctgtgtcgaggccGagcttttgtctttgatgtaa	13	6	1	1	rs201693830		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:86998740G>C	ENST00000331536.3	+	7	781	c.596G>C	c.(595-597)cGa>cCa	p.R199P	CROT_ENST00000442291.1_Missense_Mutation_p.R199P|CROT_ENST00000419147.2_Missense_Mutation_p.R227P	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	199					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGTCGAGGCCGAGCTTTTGTC	0.438																																																	0								ENSG00000005469						224	208	214					7																	86998740		2203	4300	6503	CROT	SO:0001583	missense	0			-	HGNC		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.596G>C	7.37:g.86998740G>C	ENSP00000331981:p.Arg199Pro	Somatic	0	110	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	104	30.46	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP							pfam_Carn_acyl_trans	p.R199P	ENST00000331536.3	37	c.596	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017209	0.93404	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89810	-2.57;-2.57;-2.57	5.11	5.11	0.69529	.	0.113216	0.56097	D	0.000025	D	0.96119	0.8735	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.982;0.996	D	0.96651	0.9481	10	0.72032	D	0.01	-14.452	19.0941	0.93242	0.0:0.0:1.0:0.0	.	227;199	E7EQF2;Q9UKG9	.;OCTC_HUMAN	P	227;199;199	ENSP00000413575:R227P;ENSP00000331981:R199P;ENSP00000411983:R199P	ENSP00000331981:R199P	R	+	2	0	CROT	86836676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.640000	0.91028	2.807000	0.96579	0.591000	0.81541	CGA	-	pfam_Carn_acyl_trans		0.438	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	protein_coding	OTTHUMT00000253485.1	G	NM_021151	-		86998740	1	no_errors	ENST00000331536	ensembl	human	known	74_37	missense	SNP	1.000	C	C	86998740	G	C	86998740	3	2	196	1	0	0	0	0	1	0	0	0	3896	1058	37	4	702	4	CROT	7	86998740	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4234933	86998740	72139923	993	14265											
ZNF804B	219578	genome.wustl.edu	37	chr7	88962742	88962742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaagcaactccagcaagGaattttccccattaagaatg	7	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:88962742G>A	ENST00000333190.4	+	4	1055	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	149							metal ion binding (GO:0046872)	p.G149E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCCAGCAAGGAATTTTCCCC	0.393										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	skin(1)						ENSG00000182348						50	51	50					7																	88962742		2203	4299	6502	ZNF804B	SO:0001583	missense	0			-	HGNC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.446G>A	7.37:g.88962742G>A	ENSP00000329638:p.Gly149Glu	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	62	38.00	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.G149E	ENST00000333190.4	37	c.446	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234008	0.39498	.	.	ENSG00000182348	ENST00000333190	T	0.04502	3.61	5.4	2.44	0.29823	.	0.317395	0.27258	N	0.020188	T	0.03136	0.0092	N	0.19112	0.55	0.33423	D	0.580126	B	0.21606	0.058	B	0.20184	0.028	T	0.25916	-1.0118	10	0.34782	T	0.22	-9.8678	5.9975	0.19501	0.2895:0.1369:0.5735:0.0	.	149	A4D1E1	Z804B_HUMAN	E	149	ENSP00000329638:G149E	ENSP00000329638:G149E	G	+	2	0	ZNF804B	88800678	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.669000	0.37492	0.863000	0.35553	-0.157000	0.13467	GGA	-	NULL		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	protein_coding	OTTHUMT00000253683.2	G	NM_181646	-		88962742	1	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	SNP	0.997	A	A	88962742	G	A	88962742	3	1	196	1	0	0	0	0	1	0	0	0	18178	1174	41	2	460	2	ZNF804B	7	88962742	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1964002	88962742	70175921	994	14266											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964800	88964800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattctaactcacagatttCctgtactggaagcagtaaaa	7	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:88964800C>T	ENST00000333190.4	+	4	3113	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	835							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCACAGATTTCCTGTACTGGA	0.373										HNSCC(36;0.09)																																							0								ENSG00000182348						52	52	52					7																	88964800		2203	4295	6498	ZNF804B	SO:0001583	missense	0			-	HGNC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2504C>T	7.37:g.88964800C>T	ENSP00000329638:p.Ser835Phe	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.S835F	ENST00000333190.4	37	c.2504	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	5.804	0.332674	0.10956	.	.	ENSG00000182348	ENST00000333190	T	0.06528	3.29	5.19	-0.0699	0.13750	.	1.338380	0.04724	N	0.419890	T	0.06872	0.0175	L	0.34521	1.04	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.43734	-0.9373	10	0.56958	D	0.05	0.9753	9.2857	0.37755	0.0:0.5383:0.2637:0.198	.	835	A4D1E1	Z804B_HUMAN	F	835	ENSP00000329638:S835F	ENSP00000329638:S835F	S	+	2	0	ZNF804B	88802736	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.167000	0.09940	0.075000	0.16796	0.655000	0.94253	TCC	-	NULL		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	protein_coding	OTTHUMT00000253683.2	C	NM_181646	-		88964800	1	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	SNP	0.000	T	T	88964800	C	T	88964800	3	4	196	1	0	0	0	0	1	0	0	0	18178	855	30	2	2518	2	ZNF804B	7	88964800	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2058	88964800	70173863	995	14267											
C7orf64	84060	genome.wustl.edu	37	chr7	92161864	92161864	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactactgaaaataaagGtatggaaagcatattgctaa	7	4	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:92161864G>A	ENST00000265732.5	+	3	489		c.e3+1		RBM48_ENST00000481551.1_Splice_Site	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48							nucleus (GO:0005634)	RNA binding (GO:0003723)										GAAAATAAAGGTATGGAAAGC	0.408																																																	0								ENSG00000127993						74	68	70					7																	92161864		1920	4130	6050	RBM48	SO:0001630	splice_region_variant	0			-	HGNC	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.448+1G>A	7.37:g.92161864G>A		Somatic	0	28	0		0.52429534266604	0	100	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Splice_Site	SNP							-	e3+1	ENST00000265732.5	37	c.448+1	CCDS43615.1	7	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360137	0.41801	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4468	0.90686	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf64	91999800	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.116000	0.94341	2.353000	0.79882	0.591000	0.81541	.	-	-		0.408	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM48	protein_coding	OTTHUMT00000356076.1	G	NM_032120	-	Intron	92161864	1	no_errors	ENST00000265732	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	92161864	G	A	92161864	5	1	196	1	0	0	0	0	0	0	1	0	2412	1275	44	2	459	2	C7orf64	7	92161864	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3197064	92161864	66976799	996	14268											
SAMD9	54809	genome.wustl.edu	37	chr7	92734957	92734957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctatggatggttgcctttCctttgtataatctattttat	7	6	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:92734957C>T	ENST00000379958.2	-	3	723	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	152						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTGCCTTTCCTTTGTATAA	0.368																																																	0								ENSG00000205413						133	142	139					7																	92734957		2203	4300	6503	SAMD9	SO:0001583	missense	0			-	HGNC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.454G>A	7.37:g.92734957C>T	ENSP00000369292:p.Glu152Lys	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	46	46.59	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.E152K	ENST00000379958.2	37	c.454	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436523	0.12104	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14766	2.48;2.48	4.48	1.67	0.24075	.	0.801566	0.10679	N	0.646571	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45440	-0.9261	10	0.10111	T	0.7	.	4.3413	0.11112	0.0:0.4743:0.1606:0.3651	.	152	Q5K651	SAMD9_HUMAN	K	152	ENSP00000369292:E152K;ENSP00000414529:E152K	ENSP00000369292:E152K	E	-	1	0	SAMD9	92572893	0.000000	0.05858	0.001000	0.08648	0.221000	0.24807	-0.189000	0.09629	0.252000	0.21531	0.603000	0.83216	GAA	-	NULL		0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	protein_coding	OTTHUMT00000341761.1	C	NM_017654	-		92734957	-1	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	SNP	0.002	T	T	92734957	C	T	92734957	3	4	196	1	0	0	0	0	1	0	0	0	13834	864	30	2	4319	2	SAMD9	7	92734957	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	573093	92734957	66403706	997	14269											
CALCR	799	genome.wustl.edu	37	chr7	93101772	93101772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgtttaaaccaaacacctTtttcatcacagtattttgta	4	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:93101772T>A	ENST00000394441.1	-	5	659	c.344A>T	c.(343-345)aAa>aTa	p.K115I	CALCR_ENST00000426151.1_Missense_Mutation_p.K115I|CALCR_ENST00000360249.4_Missense_Mutation_p.K115I|CALCR_ENST00000421592.1_Missense_Mutation_p.K115I|CALCR_ENST00000359558.2_Missense_Mutation_p.K133I	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	133					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CCAAACACCTTTTTCATCACA	0.318																																																	0								ENSG00000004948						161	144	150					7																	93101772		2203	4299	6502	CALCR	SO:0001583	missense	0			-	HGNC	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.344A>T	7.37:g.93101772T>A	ENSP00000377959:p.Lys115Ile	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	71	24.47	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.K133I	ENST00000394441.1	37	c.398	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948106	0.34377	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.55	-1.48	0.08745	.	.	.	.	.	T	0.48447	0.1500	L	0.34521	1.04	0.09310	N	1	B;B	0.25904	0.137;0.009	B;B	0.29440	0.091;0.102	T	0.46020	-0.9221	9	0.87932	D	0	.	7.8636	0.29524	0.0:0.1352:0.4719:0.3929	.	133;115	F5H605;A4D1G6	.;.	I	133;115;115;115;115;115	ENSP00000352561:K133I;ENSP00000353385:K115I;ENSP00000399552:K115I;ENSP00000377959:K115I;ENSP00000389295:K115I	ENSP00000352561:K133I	K	-	2	0	CALCR	92939708	0.047000	0.20315	0.000000	0.03702	0.049000	0.14656	1.381000	0.34362	-0.393000	0.07739	-1.148000	0.01847	AAA	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.318	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	T	NM_001742	-		93101772	-1	no_errors	ENST00000359558	ensembl	human	known	74_37	missense	SNP	0.001	A	A	93101772	T	A	93101772	3	1	196	1	0	0	0	0	1	0	0	0	2581	1841	64	5	1168	5	CALCR	7	93101772	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	366815	93101772	66036891	998	14270											
CALCR	799	genome.wustl.edu	37	chr7	93108745	93108745	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatcttctttcgtcctacGacgtaaagaaatggcttggg	9	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:93108745G>A	ENST00000394441.1	-	3	441	c.126C>T	c.(124-126)gtC>gtT	p.V42V	CALCR_ENST00000426151.1_Silent_p.V42V|CALCR_ENST00000360249.4_Silent_p.V42V|CALCR_ENST00000421592.1_Silent_p.V42V|CALCR_ENST00000359558.2_Silent_p.V60V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	60					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.V60V(1)|p.V42V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTCGTCCTACGACGTAAAGAA	0.408																																																	2	Substitution - coding silent(2)	endometrium(2)						ENSG00000004948						219	204	209					7																	93108745		2203	4300	6503	CALCR	SO:0001819	synonymous_variant	0			-	HGNC	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.126C>T	7.37:g.93108745G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.V60	ENST00000394441.1	37	c.180	CCDS5631.1	7																																																																																			-	prints_GPCR_2_calcitonin_rcpt		0.408	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	G	NM_001742	-		93108745	-1	no_errors	ENST00000359558	ensembl	human	known	74_37	silent	SNP	0.000	A	A	93108745	G	A	93108745	2	1	196	1	0	0	0	0	0	0	0	1	2581	1045	37	1		1	CALCR	7	93108745	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6973	93108745	66029918	999	14271											
COL1A2	1278	genome.wustl.edu	37	chr7	94056551	94056551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatggtcgcactggacatCctggtacagttggacctgct	12	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:94056551C>T	ENST00000297268.6	+	48	3682	c.3211C>T	c.(3211-3213)Cct>Tct	p.P1071S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1071					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACTGGACATCCTGGTACAGT	0.532										HNSCC(75;0.22)																																							0								ENSG00000164692						71	65	67					7																	94056551		2203	4300	6503	COL1A2	SO:0001583	missense	0			-	HGNC	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3211C>T	7.37:g.94056551C>T	ENSP00000297268:p.Pro1071Ser	Somatic	0	46	0		0.52429534266604	8676	52.67	9679	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	47	26.15	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.P1071S	ENST00000297268.6	37	c.3211	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833243	0.50951	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94793	-3.52	5.32	3.4	0.38934	.	0.116370	0.64402	D	0.000014	D	0.89979	0.6872	L	0.36672	1.1	0.39426	D	0.967007	B	0.13145	0.007	B	0.14578	0.011	D	0.87307	0.2309	10	0.40728	T	0.16	.	11.6308	0.51173	0.1267:0.6276:0.2458:0.0	.	1071	P08123	CO1A2_HUMAN	S	1071;1072	ENSP00000297268:P1071S	ENSP00000297268:P1071S	P	+	1	0	COL1A2	93894487	0.908000	0.30866	0.960000	0.40013	0.927000	0.56198	1.879000	0.39618	1.619000	0.50296	0.655000	0.94253	CCT	-	pfam_Collagen		0.532	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	protein_coding	OTTHUMT00000309045.2	C	NM_000089	-		94056551	1	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	SNP	0.960	T	T	94056551	C	T	94056551	3	4	196	1	0	0	0	0	1	0	0	0	3680	855	30	2	3401	2	COL1A2	7	94056551	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	947806	94056551	65082112	1000	14272											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggttggtgggacttactCgggccagattgtcctctggg	17	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:95657551C>T	ENST00000324972.6	+	11	1278	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532																																																	0								ENSG00000158560						218	189	199					7																	95657551		2203	4300	6503	DYNC1I1	SO:0001583	missense	0			-	HGNC	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1085C>T	7.37:g.95657551C>T	ENSP00000320130:p.Ser362Leu	Somatic	0	51	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	72	22.58	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP							pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S362L	ENST00000324972.6	37	c.1085	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.632398	0.96682	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.04	5.04	0.67666	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	0.66458	0.2791	M	0.92459	3.31	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	0.81914	0.989;0.995;0.995;0.989;0.989	T	0.75187	-0.3406	10	0.87932	D	0	-17.0481	18.9501	0.92638	0.0:1.0:0.0:0.0	.	345;342;345;362;325	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	345;362;325;342;325;345	ENSP00000392337:S345L;ENSP00000320130:S362L;ENSP00000438377:S325L;ENSP00000398118:S342L;ENSP00000352348:S325L;ENSP00000412444:S345L	ENSP00000320130:S362L	S	+	2	0	DYNC1I1	95495487	1.000000	0.71417	0.744000	0.31058	0.998000	0.95712	7.651000	0.83577	2.788000	0.95919	0.585000	0.79938	TCG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.532	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	protein_coding	OTTHUMT00000333432.1	C	NM_004411	-		95657551	1	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95657551	C	T	95657551	3	4	196	1	0	0	0	0	1	0	0	0	4844	893	31	1	1123	1	DYNC1I1	7	95657551	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1601000	95657551	63481112	1001	14273											
SLC25A13	10165	genome.wustl.edu	37	chr7	95761192	95761192	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaagcatgctttggcaCcctgcacatttgcaaaggaa	10	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:95761192C>T	ENST00000265631.5	-	15	1590	c.1454G>A	c.(1453-1455)gGt>gAt	p.G485D	SLC25A13_ENST00000542654.1_Splice_Site_p.G377D|SLC25A13_ENST00000416240.2_Splice_Site_p.G486D			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	485					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGCTTTGGCACCCTGCACATT	0.458																																																	0								ENSG00000004864						80	75	77					7																	95761192		2203	4300	6503	SLC25A13	SO:0001630	splice_region_variant	0			-	HGNC	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1453-1G>A	7.37:g.95761192C>T		Somatic	0	35	0		0.52429534266604	27	20.59	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.G486D	ENST00000265631.5	37	c.1457	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885872	0.91814	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.95821	-3.82;-3.82;-3.82	4.65	4.65	0.58169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	H	0.99929	4.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.98614	1.0664	10	0.87932	D	0	-13.9799	18.1095	0.89530	0.0:1.0:0.0:0.0	.	377;486;485	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	485;486;377	ENSP00000265631:G485D;ENSP00000400101:G486D;ENSP00000440484:G377D	ENSP00000265631:G485D	G	-	2	0	SLC25A13	95599128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.651000	0.83577	2.599000	0.87857	0.655000	0.94253	GGT	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.458	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	protein_coding	OTTHUMT00000059395.2	C	NM_014251	-	Missense_Mutation	95761192	-1	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95761192	C	T	95761192	5	4	196	1	0	0	0	0	0	0	1	0	14483	521	18	2	589	2	SLC25A13	7	95761192	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	103641	95761192	63377471	1002	14274											
ASNS	440	genome.wustl.edu	37	chr7	97487649	97487649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattgcaaatgtctggagagGatactgtacttgggcttctt	11	6	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:97487649G>A	ENST00000394309.3	-	7	1315	c.844C>T	c.(844-846)Cct>Tct	p.P282S	ASNS_ENST00000444334.1_Missense_Mutation_p.P261S|ASNS_ENST00000437628.1_Missense_Mutation_p.P199S|ASNS_ENST00000422745.1_Missense_Mutation_p.P261S|ASNS_ENST00000175506.4_Missense_Mutation_p.P282S|ASNS_ENST00000394308.3_Missense_Mutation_p.P282S|ASNS_ENST00000455086.1_Missense_Mutation_p.P199S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	282	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTCTGGAGAGGATACTGTACT	0.493																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0								ENSG00000070669						97	84	88					7																	97487649		2203	4300	6503	ASNS	SO:0001583	missense	0			-	HGNC	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.844C>T	7.37:g.97487649G>A	ENSP00000377846:p.Pro282Ser	Somatic	0	58	0		0.52429534266604	22	21.43	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP							pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.P282S	ENST00000394309.3	37	c.844	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091226	0.36855	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.37	-2.59	0.06209	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.291142	0.39210	N	0.001435	T	0.45994	0.1370	M	0.75150	2.29	0.43351	D	0.995414	B	0.23316	0.083	B	0.35727	0.209	T	0.37934	-0.9684	10	0.72032	D	0.01	-3.2111	6.5164	0.22250	0.0783:0.4832:0.3152:0.1233	.	282	P08243	ASNS_HUMAN	S	282;282;199;282;261;199;261	ENSP00000175506:P282S;ENSP00000377846:P282S;ENSP00000414379:P199S;ENSP00000377845:P282S;ENSP00000414901:P261S;ENSP00000408472:P199S;ENSP00000406994:P261S	ENSP00000175506:P282S	P	-	1	0	ASNS	97325585	0.989000	0.36119	0.178000	0.23040	0.925000	0.55904	0.897000	0.28390	-0.391000	0.07763	-1.121000	0.02013	CCT	-	pfam_Asn_synthase,tigrfam_Asn_synth_AEB		0.493	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	protein_coding	OTTHUMT00000333645.1	G	NM_001673, NM_183356	-		97487649	-1	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	SNP	0.367	A	A	97487649	G	A	97487649	3	1	196	1	0	0	0	0	1	0	0	0	1048	1174	41	2	869	2	ASNS	7	97487649	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1726457	97487649	61651014	1003	14275											
TAF6	6878	genome.wustl.edu	37	chr7	99709546	99709546	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacctcatgctctcaccCcctccgagataaaggtactg	8	14	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:99709546C>T	ENST00000344095.4	-	8	1322	c.797G>A	c.(796-798)gGg>gAg	p.G266E	TAF6_ENST00000418432.2_Splice_Site_p.G190E|TAF6_ENST00000472509.1_Splice_Site_p.G323E|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000453269.2_Splice_Site_p.G266E|TAF6_ENST00000452041.1_Splice_Site_p.G266E|TAF6_ENST00000437822.2_Splice_Site_p.G303E	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	266					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTCTCACCCCCTCCGAGAT	0.607																																																	0								ENSG00000106290						87	75	79					7																	99709546		2203	4300	6503	TAF6	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.798+1G>A	7.37:g.99709546C>T		Somatic	0	30	0		0.52429534266604	63	43.24	48	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP							pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.G266E	ENST00000344095.4	37	c.797	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686819	0.88639	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.37561	1.115	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.949;1.0	D;D;D;P;D	0.87578	0.995;0.998;0.995;0.786;0.997	T	0.64127	-0.6480	10	0.20046	T	0.44	-22.2371	16.9091	0.86136	0.0:1.0:0.0:0.0	.	303;266;256;266;190	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	E	266;323;266;266;190;303	ENSP00000389575:G266E;ENSP00000419760:G323E;ENSP00000416396:G266E;ENSP00000344537:G266E;ENSP00000407980:G190E;ENSP00000399982:G303E	ENSP00000344537:G266E	G	-	2	0	TAF6	99547482	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.368000	0.66133	2.595000	0.87683	0.561000	0.74099	GGG	-	superfamily_ARM-type_fold		0.607	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	protein_coding	OTTHUMT00000337024.2	C	NM_005641	-	Missense_Mutation	99709546	-1	no_errors	ENST00000344095	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99709546	C	T	99709546	5	4	196	1	0	0	0	0	0	0	1	0	15537	637	22	2	1268	2	TAF6	7	99709546	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2221897	99709546	59429117	1004	14276											
PCOLCE	5118	genome.wustl.edu	37	chr7	100202811	100202811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggcatcagctgttcCtggcacatcatcgcgccccc	9	20	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100202811C>T	ENST00000223061.5	+	4	841	c.561C>T	c.(559-561)tcC>tcT	p.S187S	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	187	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAGCTGTTCCTGGCACATCA	0.682																																																	0								ENSG00000106333						22	25	24					7																	100202811		2202	4298	6500	PCOLCE	SO:0001819	synonymous_variant	0			-	HGNC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.561C>T	7.37:g.100202811C>T		Somatic	0	72	0		0.52429534266604	2334	48.16	2169	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	66	24.14	B2R9E1|O14550	Silent	SNP							pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.S187	ENST00000223061.5	37	c.561	CCDS5700.1	7																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.682	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	protein_coding	OTTHUMT00000345285.1	C	NM_002593	-		100202811	1	no_errors	ENST00000223061	ensembl	human	known	74_37	silent	SNP	1.000	T	T	100202811	C	T	100202811	2	4	196	1	0	0	0	0	0	0	0	1	11596	668	24	2		2	PCOLCE	7	100202811	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	493265	100202811	58935852	1005	14277											
GIGYF1	64599	genome.wustl.edu	37	chr7	100284304	100284304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgccagcggtcgccgtctCgccggggccctgctccgagc	15	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100284304C>T	ENST00000275732.5	-	7	1871	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	221					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCGCCGTCTCGCCGGGGCCC	0.687																																																	0								ENSG00000146830						26	31	30					7																	100284304		2200	4289	6489	GIGYF1	SO:0001583	missense	0			-	HGNC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.662G>A	7.37:g.100284304C>T	ENSP00000275732:p.Arg221Gln	Somatic	0	34	0		0.52429534266604	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	26	46.94	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP							pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R221Q	ENST00000275732.5	37	c.662	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	32	5.156060	0.94686	.	.	ENSG00000146830	ENST00000275732	D	0.83755	-1.76	4.96	4.96	0.65561	.	0.071472	0.53938	D	0.000053	D	0.86239	0.5885	L	0.55990	1.75	0.48975	D	0.999735	D	0.76494	0.999	P	0.56751	0.805	D	0.85224	0.1028	10	0.37606	T	0.19	-8.0326	15.7405	0.77891	0.0:1.0:0.0:0.0	.	221	O75420	PERQ1_HUMAN	Q	221	ENSP00000275732:R221Q	ENSP00000275732:R221Q	R	-	2	0	GIGYF1	100122240	0.837000	0.29446	1.000000	0.80357	0.489000	0.33432	4.956000	0.63645	2.571000	0.86741	0.563000	0.77884	CGA	-	NULL		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	C	NM_022574	-		100284304	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100284304	C	T	100284304	3	4	196	1	0	0	0	0	1	0	0	0	6379	884	31	1	2517	1	GIGYF1	7	100284304	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	81493	100284304	58854359	1006	14278											
ZAN	7455	genome.wustl.edu	37	chr7	100350371	100350371	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaaaaactcaccatcccCacggaaaaacccaccatccc	4	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100350371C>T	ENST00000348028.3	+	0	2808				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCACCATCCCCACGGAAAAAC	0.498																																																	0								ENSG00000146839						320	364	350					7																	100350371		1875	4103	5978	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350371C>T		Somatic	0	169	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	164	27.75	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P881	ENST00000348028.3	37	c.2643		7																																																																																			-	NULL		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386	-		100350371	1	no_errors	ENST00000546292	ensembl	human	known	74_37	silent	SNP	0.004	T	T	100350371	C	T	100350371	1	4	196	0	1	0	0	0	0	0	0	0	17520	581	21	2		2	ZAN	7	100350371	RNA	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	66067	100350371	58788292	1007	14279											
MUC17	140453	genome.wustl.edu	37	chr7	100677806	100677806	+	Missense_Mutation	SNP	C	C	T													ccagcatgccaacctcaactCctagtgaaggaagcactcca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100677806C>T	ENST00000306151.4	+	3	3173	c.3109C>T	c.(3109-3111)Cct>Tct	p.P1037S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1037	59 X approximate tandem repeats.|Ser-rich.				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)					AACCTCAACTCCTAGTGAAGG	0.502																																																	0								ENSG00000169876						514	403	441					7																	100677806		2203	4298	6501	MUC17	SO:0001583	missense	0			-	HGNC	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.3109C>T	7.37:g.100677806C>T	ENSP00000302716:p.Pro1037Ser	Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	86	30.65	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P1037S	ENST00000306151.4	37	c.3109	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	1.759	-0.487249	0.04352	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.74	-0.273	0.12915	.	.	.	.	.	T	0.02230	0.0069	L	0.27053	0.805	0.09310	N	1	B	0.20671	0.047	B	0.11329	0.006	T	0.49293	-0.8955	9	0.10902	T	0.67	.	3.7433	0.08539	0.0:0.4439:0.0:0.5561	.	1037	Q685J3	MUC17_HUMAN	S	1037	ENSP00000302716:P1037S	ENSP00000302716:P1037S	P	+	1	0	MUC17	100464526	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-2.579000	0.00907	-0.100000	0.12241	0.134000	0.15878	CCT	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100677806	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.060	T	T	100677806	C	T	100677806	3	4	196	1	0	0	0	0	1	0	0	0	9976	855	30	2	3119	2	MUC17	7	100677806	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	327435	100677806	58460857	1008	14280	284	2									
MUC17	140453	genome.wustl.edu	37	chr7	100677807	100677807	+	Missense_Mutation	SNP	C	C	T													cagcatgccaacctcaactcCtagtgaaggaagcactccat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100677807C>T	ENST00000306151.4	+	3	3174	c.3110C>T	c.(3109-3111)cCt>cTt	p.P1037L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1037	59 X approximate tandem repeats.|Ser-rich.				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)					ACCTCAACTCCTAGTGAAGGA	0.507																																																	0								ENSG00000169876						515	404	441					7																	100677807		2203	4298	6501	MUC17	SO:0001583	missense	0			-	HGNC	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.3110C>T	7.37:g.100677807C>T	ENSP00000302716:p.Pro1037Leu	Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	86	30.65	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P1037L	ENST00000306151.4	37	c.3110	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903701	0.33628	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.74	0.74	0.18330	.	.	.	.	.	T	0.02688	0.0081	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39904	0.313	T	0.50242	-0.8851	9	0.32370	T	0.25	.	7.4353	0.27152	0.0:1.0:0.0:0.0	.	1037	Q685J3	MUC17_HUMAN	L	1037	ENSP00000302716:P1037L	ENSP00000302716:P1037L	P	+	2	0	MUC17	100464527	0.001000	0.12720	0.003000	0.11579	0.027000	0.11550	0.747000	0.26290	0.720000	0.32209	0.134000	0.15878	CCT	-	NULL		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100677807	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.058	T	T	100677807	C	T	100677807	3	4	196	1	0	0	0	0	1	0	0	0	9976	681	24	2	3120	2	MUC17	7	100677807	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	100677807	58460856	1009	14281	284	2									
FBXL13	222235	genome.wustl.edu	37	chr7	102517933	102517933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcattagagatgtctgttCcagagagatctattgatacc	8	9	3	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:102517933C>T	ENST00000313221.4	-	16	2042	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E	FBXL13_ENST00000393772.2_Missense_Mutation_p.G539E|FBXL13_ENST00000379308.3_Missense_Mutation_p.G539E|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.G539E|FBXL13_ENST00000379305.3_Missense_Mutation_p.G539E|FBXL13_ENST00000455112.2_Missense_Mutation_p.G539E|FBXL13_ENST00000456695.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	539										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GATGTCTGTTCCAGAGAGATC	0.284																																																	0								ENSG00000161040						59	60	59					7																	102517933		2202	4295	6497	FBXL13	SO:0001583	missense	0			-	HGNC	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1616G>A	7.37:g.102517933C>T	ENSP00000321927:p.Gly539Glu	Somatic	0	118	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	97	35.76	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP							smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.G539E	ENST00000313221.4	37	c.1616	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658211	0.67586	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.54866	0.55;4.3;0.55;4.3;4.3;4.3	5.55	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.64630	1.985	0.80722	D	1	D;D;D	0.71674	0.984;0.996;0.998	P;P;D	0.68353	0.785;0.846;0.957	T	0.69684	-0.5079	10	0.56958	D	0.05	.	15.7926	0.78376	0.0:0.8638:0.1362:0.0	.	539;539;539	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	E	539;539;260;539;539;539;539	ENSP00000377367:G539E;ENSP00000368610:G539E;ENSP00000368607:G539E;ENSP00000388608:G539E;ENSP00000321927:G539E;ENSP00000391550:G539E	ENSP00000321927:G539E	G	-	2	0	FBXL13	102305169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.491000	0.35583	2.761000	0.94854	0.557000	0.71058	GGA	-	NULL		0.284	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	protein_coding	OTTHUMT00000348001.1	C	NM_145032	-		102517933	-1	no_errors	ENST00000313221	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102517933	C	T	102517933	3	4	196	1	0	0	0	0	1	0	0	0	5711	855	30	2	611	2	FBXL13	7	102517933	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1840126	102517933	56620730	1010	14282											
PSMC2	5701	genome.wustl.edu	37	chr7	103008415	103008415	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cacggcgaaaaattgctaccGagaaggatttcttggaagct	11	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:103008415G>C	ENST00000435765.1	+	13	1627	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E269Q|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.E406Q	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	406					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATTGCTACCGAGAAGGATTT	0.423																																																	0								ENSG00000161057						87	86	86					7																	103008415		2203	4300	6503	PSMC2	SO:0001583	missense	0			-	HGNC	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1216G>C	7.37:g.103008415G>C	ENSP00000391211:p.Glu406Gln	Somatic	0	31	0		0.52429534266604	481	37.04	283	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	27	46.00	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP							pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E406Q	ENST00000435765.1	37	c.1216	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482418	0.84747	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95035	-3.59;-3.59;-3.59	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	N	0.21142	0.635	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91494	0.5214	10	0.11485	T	0.65	-32.1839	19.3665	0.94464	0.0:0.0:1.0:0.0	.	406	P35998	PRS7_HUMAN	Q	406;406;269	ENSP00000391211:E406Q;ENSP00000292644:E406Q;ENSP00000445546:E269Q	ENSP00000292644:E406Q	E	+	1	0	PSMC2	102795651	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.747000	0.85070	2.573000	0.86826	0.644000	0.83932	GAG	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45		0.423	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	protein_coding	OTTHUMT00000347922.1	G	NM_002803	-		103008415	1	no_errors	ENST00000292644	ensembl	human	known	74_37	missense	SNP	1.000	C	C	103008415	G	C	103008415	3	2	196	1	0	0	0	0	1	0	0	0	12691	1059	37	4	1262	4	PSMC2	7	103008415	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	490482	103008415	56130248	1011	14283											
RELN	5649	genome.wustl.edu	37	chr7	103236958	103236958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaggtgccactggatgcCcccattgttgctgtactgaa	11	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:103236958C>T	ENST00000428762.1	-	25	3643	c.3484G>A	c.(3484-3486)Ggc>Agc	p.G1162S	RELN_ENST00000424685.2_Missense_Mutation_p.G1162S|RELN_ENST00000343529.5_Missense_Mutation_p.G1162S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1162					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)		CACTGGATGCCCCCATTGTTG	0.517																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						191	171	178					7																	103236958		2203	4300	6503	RELN	SO:0001583	missense	0			-	HGNC		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.3484G>A	7.37:g.103236958C>T	ENSP00000392423:p.Gly1162Ser	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	50	46.81	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP							pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G1162S	ENST00000428762.1	37	c.3484	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.670423	0.96754	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.74421	-0.41;-0.84;-0.41	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.98;0.994	D	0.89237	0.3581	10	0.87932	D	0	.	20.0758	0.97742	0.0:1.0:0.0:0.0	.	1162;1162	P78509-2;P78509	.;RELN_HUMAN	S	1162	ENSP00000392423:G1162S;ENSP00000345694:G1162S;ENSP00000388446:G1162S	ENSP00000345694:G1162S	G	-	1	0	RELN	103024194	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.270000	0.78493	2.763000	0.94921	0.650000	0.86243	GGC	-	superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	C	NM_005045	-		103236958	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103236958	C	T	103236958	3	4	196	1	0	0	0	0	1	0	0	0	13228	623	22	2	7062	2	RELN	7	103236958	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	228543	103236958	55901705	1012	14284											
RELN	5649	genome.wustl.edu	37	chr7	103301975	103301975	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctcccaagacatcccatCtaaaaaaaaagggggattaa	7	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:103301975C>T	ENST00000428762.1	-	12	1449		c.e12-1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						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)		GACATCCCATCTAAAAAAAAA	0.353																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						71	62	65					7																	103301975		2203	4300	6503	RELN	SO:0001630	splice_region_variant	0			-	HGNC		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.1290-1G>A	7.37:g.103301975C>T		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP							-	e12-1	ENST00000428762.1	37	c.1290-1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472418	0.43942	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1135	0.89543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103089211	1.000000	0.71417	0.992000	0.48379	0.218000	0.24690	4.648000	0.61425	2.281000	0.76405	0.467000	0.42956	.	-	-		0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	C	NM_005045	-	Intron	103301975	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	103301975	C	T	103301975	5	4	196	1	0	0	0	0	0	0	1	0	13228	927	32	2	9309	2	RELN	7	103301975	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	65017	103301975	55836688	1013	14285											
NRCAM	4897	genome.wustl.edu	37	chr7	107824989	107824989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgggctgtggtctgtgttCcagaaacttcagtttggtgg	15	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:107824989C>T	ENST00000425651.2	-	18	2104	c.2105G>A	c.(2104-2106)gGa>gAa	p.G702E	NRCAM_ENST00000379024.4_Missense_Mutation_p.G683E|NRCAM_ENST00000413765.2_Missense_Mutation_p.G683E|NRCAM_ENST00000379028.3_Missense_Mutation_p.G702E|NRCAM_ENST00000379022.4_Missense_Mutation_p.G702E|NRCAM_ENST00000351718.4_Missense_Mutation_p.G686E	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	702	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GGTCTGTGTTCCAGAAACTTC	0.527																																																	0								ENSG00000091129						90	86	88					7																	107824989		2203	4300	6503	NRCAM	SO:0001583	missense	0			-	HGNC		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.2105G>A	7.37:g.107824989C>T	ENSP00000401244:p.Gly702Glu	Somatic	0	18	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G702E	ENST00000425651.2	37	c.2105	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938287	0.92526	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85859	2.78	0.80722	D	1	D;D;D;D;P	0.64830	0.994;0.986;0.988;0.986;0.924	D;D;D;D;P	0.69479	0.956;0.94;0.964;0.956;0.826	T	0.80002	-0.1565	10	0.72032	D	0.01	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	702;683;683;686;702	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	E	702;702;683;702;686;683;702;702;686	ENSP00000368314:G702E;ENSP00000407858:G683E;ENSP00000325269:G686E;ENSP00000368310:G683E;ENSP00000401244:G702E;ENSP00000368308:G702E	ENSP00000325269:G686E	G	-	2	0	NRCAM	107612225	1.000000	0.71417	0.253000	0.24343	0.970000	0.65996	5.993000	0.70616	2.548000	0.85928	0.591000	0.81541	GGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	protein_coding	OTTHUMT00000337942.2	C	NM_001037132	-		107824989	-1	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107824989	C	T	107824989	3	4	196	1	0	0	0	0	1	0	0	0	10646	855	30	2	1891	2	NRCAM	7	107824989	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4523014	107824989	51313674	1014	14286											
ZNF277	11179	genome.wustl.edu	37	chr7	111927053	111927053	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttcctgtggctgaacaaGacaaacttctgaagcacatg	8	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:111927053G>A	ENST00000361822.3	+	2	346	c.217G>A	c.(217-219)Gac>Aac	p.D73N	RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.D73N|ZNF277_ENST00000421043.1_Missense_Mutation_p.D73N	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	73					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGCTGAACAAGACAAACTTCT	0.413																																																	0								ENSG00000198839						159	150	153					7																	111927053		2203	4300	6503	ZNF277	SO:0001583	missense	0			-	HGNC	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.217G>A	7.37:g.111927053G>A	ENSP00000354501:p.Asp73Asn	Somatic	0	73	0		0.52429534266604	9	30.77	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	56	27.27	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D73N	ENST00000361822.3	37	c.217	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231924	0.58777	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T;T	0.44881	0.91;0.91;0.91	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);	0.093034	0.64402	D	0.000001	T	0.32194	0.0821	L	0.41236	1.265	0.53005	D	0.999961	B;B	0.33777	0.026;0.425	B;B	0.30943	0.022;0.122	T	0.08932	-1.0698	10	0.33940	T	0.23	-22.4453	10.7431	0.46164	0.1154:0.0:0.8846:0.0	.	73;73	Q9NRM2;G5E9M4	ZN277_HUMAN;.	N	73	ENSP00000354501:D73N;ENSP00000390359:D73N;ENSP00000402292:D73N	ENSP00000354501:D73N	D	+	1	0	ZNF277	111714289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.358000	0.59442	2.665000	0.90641	0.650000	0.86243	GAC	-	smart_Znf_C2H2-like		0.413	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	protein_coding	OTTHUMT00000316843.2	G	NM_021994	-		111927053	1	no_errors	ENST00000361822	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111927053	G	A	111927053	3	1	196	1	0	0	0	0	1	0	0	0	17819	942	33	2	223	2	ZNF277	7	111927053	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4102064	111927053	47211610	1015	14287											
TMEM168	64418	genome.wustl.edu	37	chr7	112412839	112412839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaggtgagtttacctgCtagagcccactctcctgtac	9	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:112412839C>T	ENST00000312814.6	-	4	2103	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T	TMEM168_ENST00000454074.1_Missense_Mutation_p.A515T|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	515						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGTTTACCTGCTAGAGCCCAC	0.413																																																	0								ENSG00000146802						92	79	84					7																	112412839		2203	4300	6503	TMEM168	SO:0001583	missense	0			-	HGNC		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1543G>A	7.37:g.112412839C>T	ENSP00000323068:p.Ala515Thr	Somatic	0	51	0		0.52429534266604	16	33.33	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	43	28.33	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP							superfamily_ConA-like_lec_gl_sf	p.A515T	ENST00000312814.6	37	c.1543	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950224	0.73787	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.82	4.93	0.64822	.	0.044666	0.85682	D	0.000000	T	0.52805	0.1757	L	0.46157	1.445	0.80722	D	1	B	0.34181	0.44	B	0.33846	0.171	T	0.52946	-0.8507	9	0.42905	T	0.14	.	16.2877	0.82729	0.1336:0.8664:0.0:0.0	.	515	Q9H0V1	TM168_HUMAN	T	515;515;131;76	.	ENSP00000323068:A515T	A	-	1	0	TMEM168	112200075	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.909000	0.63314	1.443000	0.47586	-0.182000	0.12963	GCA	-	NULL		0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	protein_coding	OTTHUMT00000338696.4	C	NM_022484	-		112412839	-1	no_errors	ENST00000312814	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112412839	C	T	112412839	3	4	196	1	0	0	0	0	1	0	0	0	16090	797	28	2	558	2	TMEM168	7	112412839	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	485786	112412839	46725824	1016	14288											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518323	113518323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagaaataggttggctagCcatggtagtaactgcattct	11	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:113518323C>T	ENST00000284601.3	-	4	2892	c.2824G>A	c.(2824-2826)Gct>Act	p.A942T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	942					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						GGTTGGCTAGCCATGGTAGTA	0.388																																																	0								ENSG00000154415						101	101	101					7																	113518323		2203	4299	6502	PPP1R3A	SO:0001583	missense	0			-	HGNC	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.2824G>A	7.37:g.113518323C>T	ENSP00000284601:p.Ala942Thr	Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP							pfam_CBM_21,pfscan_CBM_21	p.A942T	ENST00000284601.3	37	c.2824	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	0	-2.675008	0.00104	.	.	ENSG00000154415	ENST00000284601	T	0.15139	2.45	5.71	-6.56	0.01848	.	1.031730	0.07649	N	0.931581	T	0.04137	0.0115	N	0.02111	-0.68	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45116	-0.9283	10	0.02654	T	1	0.0118	8.3573	0.32338	0.0:0.4069:0.2177:0.3754	.	942	Q16821	PPR3A_HUMAN	T	942	ENSP00000284601:A942T	ENSP00000284601:A942T	A	-	1	0	PPP1R3A	113305559	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.826000	0.01705	-0.725000	0.04901	-0.312000	0.09012	GCT	-	NULL		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	C	NM_002711	-		113518323	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	SNP	0.000	T	T	113518323	C	T	113518323	3	4	196	1	0	0	0	0	1	0	0	0	12376	739	26	2	548	2	PPP1R3A	7	113518323	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1105484	113518323	45620340	1017	14289											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113519973	113519973	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctcctgaggaatatttttCattgcagtaaaaatctccct	5	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:113519973C>T	ENST00000284601.3	-	4	1242	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	392					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E392K(1)		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						GAATATTTTTCATTGCAGTAA	0.398																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000154415						161	159	160					7																	113519973		2203	4300	6503	PPP1R3A	SO:0001583	missense	0			-	HGNC	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.1174G>A	7.37:g.113519973C>T	ENSP00000284601:p.Glu392Lys	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	57	38.30	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP							pfam_CBM_21,pfscan_CBM_21	p.E392K	ENST00000284601.3	37	c.1174	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	9.237	1.037344	0.19669	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.31247	2.38;1.5	5.18	0.991	0.19813	.	0.713078	0.12923	N	0.428022	T	0.26666	0.0652	L	0.57536	1.79	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.17899	-1.0354	10	0.39692	T	0.17	-0.5335	7.7541	0.28915	0.0:0.5028:0.352:0.1452	.	392	Q16821	PPR3A_HUMAN	K	392;71	ENSP00000284601:E392K;ENSP00000401278:E71K	ENSP00000284601:E392K	E	-	1	0	PPP1R3A	113307209	0.000000	0.05858	0.224000	0.23877	0.293000	0.27360	0.264000	0.18497	0.268000	0.21939	0.655000	0.94253	GAA	-	NULL		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	C	NM_002711	-		113519973	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	SNP	0.008	T	T	113519973	C	T	113519973	3	4	196	1	0	0	0	0	1	0	0	0	12376	835	29	2	2198	2	PPP1R3A	7	113519973	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1650	113519973	45618690	1018	14290											
TES	26136	genome.wustl.edu	37	chr7	115874652	115874652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcaaagaaaaatgtgaagGattcgaactgcacttctgga	10	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:115874652G>A	ENST00000358204.4	+	2	307	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TES_ENST00000485009.1_3'UTR|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.G22E	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	31	Cys-rich.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAATGTGAAGGATTCGAACTG	0.363																																																	0								ENSG00000135269						148	162	157					7																	115874652		2203	4300	6503	TES	SO:0001583	missense	0			-	HGNC	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.92G>A	7.37:g.115874652G>A	ENSP00000350937:p.Gly31Glu	Somatic	0	60	0		0.52429534266604	22	21.43	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	93	18.42	A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP							pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G31E	ENST00000358204.4	37	c.92	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476285	0.84640	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.69685	-0.42;-0.42	4.72	4.72	0.59763	.	0.091610	0.46145	D	0.000314	D	0.84982	0.5593	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88592	0.3144	10	0.87932	D	0	-12.0886	16.8348	0.85954	0.0:0.0:1.0:0.0	.	31;31	B7Z5L5;Q9UGI8	.;TES_HUMAN	E	31;31;22	ENSP00000350937:G31E;ENSP00000377121:G22E	ENSP00000257721:G31E	G	+	2	0	TES	115661888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.789000	0.85783	2.345000	0.79718	0.650000	0.86243	GGA	-	NULL		0.363	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	protein_coding	OTTHUMT00000059413.2	G	NM_015641	-		115874652	1	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115874652	G	A	115874652	3	1	196	1	0	0	0	0	1	0	0	0	15772	1174	41	2	98	2	TES	7	115874652	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2354679	115874652	43264011	1019	14291											
WNT2	7472	genome.wustl.edu	37	chr7	116918430	116918430	+	Missense_Mutation	SNP	C	C	T													gcacacacggcctgctgtacCcagggagcctggaagacaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:116918430C>T	ENST00000265441.3	-	5	1161	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	288					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGCTGTACCCAGGGAGCCT	0.582																																																	0								ENSG00000105989						38	31	33					7																	116918430		2203	4300	6503	WNT2	SO:0001583	missense	0			-	HGNC	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.862G>A	7.37:g.116918430C>T	ENSP00000265441:p.Gly288Ser	Somatic	0	18	0		0.52429534266604	40	23.08	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.G288S	ENST00000265441.3	37	c.862	CCDS5771.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.689019	0.96784	.	.	ENSG00000105989	ENST00000265441	D	0.84223	-1.82	5.87	5.87	0.94306	.	0.049603	0.85682	D	0.000000	D	0.94928	0.8360	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95648	0.8704	10	0.87932	D	0	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	288;288	A4D0V1;P09544	.;WNT2_HUMAN	S	288	ENSP00000265441:G288S	ENSP00000265441:G288S	G	-	1	0	WNT2	116705666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGT	-	pfam_Wnt,smart_Wnt		0.582	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	protein_coding	OTTHUMT00000059749.3	C	NM_003391	-		116918430	-1	no_errors	ENST00000265441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116918430	C	T	116918430	3	4	196	1	0	0	0	0	1	0	0	0	17393	623	22	2	224	2	WNT2	7	116918430	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1043778	116918430	42220233	1020	14292	285	2									
WNT2	7472	genome.wustl.edu	37	chr7	116918431	116918431	+	Silent	SNP	C	C	T													cacacacggcctgctgtaccCagggagcctggaagacaagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:116918431C>T	ENST00000265441.3	-	5	1160	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	287					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCTGTACCCAGGGAGCCTG	0.582																																																	0								ENSG00000105989						36	30	32					7																	116918431		2203	4300	6503	WNT2	SO:0001819	synonymous_variant	0			-	HGNC	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.861G>A	7.37:g.116918431C>T		Somatic	0	18	0		0.52429534266604	41	22.64	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	A4D0V1|Q75N05|Q9UDP9	Silent	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.L287	ENST00000265441.3	37	c.861	CCDS5771.1	7																																																																																			-	pfam_Wnt,smart_Wnt		0.582	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	protein_coding	OTTHUMT00000059749.3	C	NM_003391	-		116918431	-1	no_errors	ENST00000265441	ensembl	human	known	74_37	silent	SNP	1.000	T	T	116918431	C	T	116918431	2	4	196	1	0	0	0	0	0	0	0	1	17393	581	21	2		2	WNT2	7	116918431	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	116918431	42220232	1021	14293	285	2									
CFTR	1080	genome.wustl.edu	37	chr7	117227801	117227801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggtaataggacatctcCaagtttgcagagaaagacaa	9	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:117227801C>T	ENST00000003084.6	+	12	1725	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	CFTR_ENST00000454343.1_Silent_p.S470S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	531	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGGACATCTCCAAGTTTGCAG	0.348									Cystic Fibrosis																																								0								ENSG00000001626						106	108	107					7																	117227801		2203	4300	6503	CFTR	SO:0001819	synonymous_variant	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1593C>T	7.37:g.117227801C>T		Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	38	40.62	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.S531	ENST00000003084.6	37	c.1593	CCDS5773.1	7																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.348	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	C	NM_000492	-		117227801	1	no_errors	ENST00000003084	ensembl	human	known	74_37	silent	SNP	0.996	T	T	117227801	C	T	117227801	2	4	196	1	0	0	0	0	0	0	0	1	3296	581	21	2		2	CFTR	7	117227801	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	309370	117227801	41910862	1022	14294											
CFTR	1080	genome.wustl.edu	37	chr7	117235015	117235015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatatggagagcatacCagcagtgactacatggaaca	11	7	0	4	rs397508392		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:117235015C>T	ENST00000003084.6	+	15	2654	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	CFTR_ENST00000454343.1_Missense_Mutation_p.P780L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	841					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAGAGCATACCAGCAGTGACT	0.353									Cystic Fibrosis																																								0			GRCh37	CM004892	CFTR	M		ENSG00000001626						160	148	152					7																	117235015		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2522C>T	7.37:g.117235015C>T	ENSP00000003084:p.Pro841Leu	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	57	35.96	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.P841L	ENST00000003084.6	37	c.2522	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065463	0.20067	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95035	-3.59;-3.59;-3.59	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);	0.276053	0.42420	D	0.000718	D	0.93546	0.7940	M	0.63428	1.95	0.09310	N	0.999999	B	0.23540	0.087	B	0.36766	0.232	D	0.85820	0.1385	10	0.35671	T	0.21	-16.8898	11.4331	0.50052	0.1308:0.7268:0.1424:0.0	.	841	P13569	CFTR_HUMAN	L	841;780;811	ENSP00000003084:P841L;ENSP00000403677:P780L;ENSP00000389119:P811L	ENSP00000003084:P841L	P	+	2	0	CFTR	117022251	0.289000	0.24334	0.380000	0.26093	0.658000	0.38924	2.288000	0.43514	2.652000	0.90054	0.591000	0.81541	CCA	-	superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel		0.353	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	C	NM_000492	-		117235015	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	0.036	T	T	117235015	C	T	117235015	3	4	196	1	0	0	0	0	1	0	0	0	3296	594	21	2	2580	2	CFTR	7	117235015	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7214	117235015	41903648	1023	14295											
CFTR	1080	genome.wustl.edu	37	chr7	117304782	117304782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaacagtttcctgggaagcTtgactttgtccttgtggatg	12	7	0	2	rs397508658		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:117304782T>A	ENST00000003084.6	+	25	4136	c.4004T>A	c.(4003-4005)cTt>cAt	p.L1335H	CFTR_ENST00000454343.1_Missense_Mutation_p.L1274H	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1335	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CCTGGGAAGCTTGACTTTGTC	0.468									Cystic Fibrosis																																								0			GRCh37	CM972964	CFTR	M		ENSG00000001626						211	178	189					7																	117304782		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4004T>A	7.37:g.117304782T>A	ENSP00000003084:p.Leu1335His	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	61	24.69	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.L1335H	ENST00000003084.6	37	c.4004	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601906	0.87055	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91631	-2.88;-2.88;-2.88	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	-17.771	16.1485	0.81594	0.0:0.0:0.0:1.0	.	1335	P13569	CFTR_HUMAN	H	1335;1274;1305	ENSP00000003084:L1335H;ENSP00000403677:L1274H;ENSP00000389119:L1305H	ENSP00000003084:L1335H	L	+	2	0	CFTR	117092018	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.563000	0.82314	2.281000	0.76405	0.533000	0.62120	CTT	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.468	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	T	NM_000492	-		117304782	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117304782	T	A	117304782	3	1	196	1	0	0	0	0	1	0	0	0	3296	1609	56	5	4102	5	CFTR	7	117304782	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	69767	117304782	41833881	1024	14296											
KCND2	3751	genome.wustl.edu	37	chr7	119915568	119915568	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctttgtcacactccgagtCttccgggtcttcaggatctt	9	13	5	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:119915568C>T	ENST00000331113.4	+	1	1847	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	294					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V294V(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACTCCGAGTCTTCCGGGTCT	0.527																																																	1	Substitution - coding silent(1)	ovary(1)						ENSG00000184408						104	89	94					7																	119915568		2203	4300	6503	KCND2	SO:0001819	synonymous_variant	0			-	HGNC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.882C>T	7.37:g.119915568C>T		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	23	45.24	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP							pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.V294	ENST00000331113.4	37	c.882	CCDS5776.1	7																																																																																			-	pfam_Ion_trans_dom,prints_K_chnl		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	C	NM_012281	-		119915568	1	no_errors	ENST00000331113	ensembl	human	known	74_37	silent	SNP	1.000	T	T	119915568	C	T	119915568	2	4	196	1	0	0	0	0	0	0	0	1	8021	900	32	2		2	KCND2	7	119915568	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2610786	119915568	39223095	1025	14297											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121650587	121650587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggaaagggtgatgttcCcaatacatctttaaattcca	7	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:121650587C>T	ENST00000393386.2	+	12	1898	c.1487C>T	c.(1486-1488)cCc>cTc	p.P496L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P496L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	496					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTGATGTTCCCAATACATCT	0.428																																																	0								ENSG00000106278						112	99	103					7																	121650587		2203	4300	6503	PTPRZ1	SO:0001583	missense	0			-	HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1487C>T	7.37:g.121650587C>T	ENSP00000377047:p.Pro496Leu	Somatic	0	63	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	59	18.06	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P496L	ENST00000393386.2	37	c.1487	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	2.711	-0.268733	0.05716	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.40756	1.06;1.02	5.81	1.37	0.22104	.	0.679148	0.14643	N	0.307053	T	0.19565	0.0470	N	0.21448	0.665	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17745	-1.0359	10	0.08599	T	0.76	.	1.6565	0.02782	0.1786:0.4225:0.1114:0.2875	.	496;496	C9JFM0;P23471	.;PTPRZ_HUMAN	L	496	ENSP00000377047:P496L;ENSP00000410000:P496L	ENSP00000377047:P496L	P	+	2	0	PTPRZ1	121437823	0.162000	0.22906	0.670000	0.29842	0.718000	0.41266	0.265000	0.18515	0.790000	0.33803	0.655000	0.94253	CCC	-	NULL		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	C	NM_002851	-		121650587	1	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	SNP	0.064	T	T	121650587	C	T	121650587	3	4	196	1	0	0	0	0	1	0	0	0	12822	623	22	2	1533	2	PTPRZ1	7	121650587	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1735019	121650587	37488076	1026	14298											
LMOD2	442721	genome.wustl.edu	37	chr7	123296237	123296237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcactgatggcctattggGaaaaggagtcccaaaaactc	11	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:123296237G>A	ENST00000458573.2	+	1	377	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	LMOD2_ENST00000456238.2_Missense_Mutation_p.E74K	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	74	Glu-rich.					cytoskeleton (GO:0005856)											GGCCTATTGGGAAAAGGAGTC	0.552																																																	0								ENSG00000170807						38	45	43					7																	123296237		1876	4099	5975	LMOD2	SO:0001583	missense	0			-	HGNC	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.220G>A	7.37:g.123296237G>A	ENSP00000411932:p.Glu74Lys	Somatic	0	87	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	53	36.90	A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP							pfam_Tropomodulin,pfscan_WH2_dom	p.E74K	ENST00000458573.2	37	c.220	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.245164	0.95272	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.38401	1.14;1.14	5.67	5.67	0.87782	.	0.000000	0.35466	N	0.003195	T	0.63674	0.2531	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61466	-0.7057	10	0.40728	T	0.16	-13.3625	19.7629	0.96329	0.0:0.0:1.0:0.0	.	74	Q6P5Q4	LMOD2_HUMAN	K	74	ENSP00000411932:E74K;ENSP00000398975:E74K	ENSP00000405123:E74K	E	+	1	0	LMOD2	123083473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.666000	0.90696	0.561000	0.74099	GAA	-	pfam_Tropomodulin		0.552	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	protein_coding	OTTHUMT00000348525.1	G		-		123296237	1	no_errors	ENST00000458573	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123296237	G	A	123296237	3	1	196	1	0	0	0	0	1	0	0	0	8859	1175	41	2	222	2	LMOD2	7	123296237	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1645650	123296237	35842426	1027	14299											
SPAM1	6677	genome.wustl.edu	37	chr7	123594244	123594244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtagagactataaaattggGaaaattacttcggccaaatc	9	6	0	1	rs113752093		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:123594244G>A	ENST00000439500.1	+	4	1233	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SPAM1_ENST00000340011.5_Missense_Mutation_p.G207E|SPAM1_ENST00000223028.7_Missense_Mutation_p.G207E|SPAM1_ENST00000402183.2_Missense_Mutation_p.G207E|SPAM1_ENST00000460182.1_Missense_Mutation_p.G207E	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)	207					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						ATAAAATTGGGAAAATTACTT	0.383																																																	0								ENSG00000106304						74	80	78					7																	123594244		2203	4300	6503	SPAM1	SO:0001583	missense	0			-	HGNC	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.620G>A	7.37:g.123594244G>A	ENSP00000402123:p.Gly207Glu	Somatic	0	73	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	53	45.92	Q8TC30	Missense_Mutation	SNP							pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.G207E	ENST00000439500.1	37	c.620	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592876	0.66219	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.17	5.28	0.74379	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.052947	0.85682	D	0.000000	T	0.71256	0.3318	H	0.94886	3.595	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81258	-0.1014	9	.	.	.	-29.7007	16.5077	0.84277	0.0:0.1308:0.8692:0.0	.	207;207	Q8TC30;P38567	.;HYALP_HUMAN	E	207	ENSP00000386028:G207E;ENSP00000417934:G207E;ENSP00000345849:G207E;ENSP00000402123:G207E;ENSP00000223028:G207E	.	G	+	2	0	SPAM1	123381480	1.000000	0.71417	0.771000	0.31576	0.308000	0.27856	3.993000	0.56987	1.585000	0.49928	0.655000	0.94253	GGA	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.383	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	protein_coding	OTTHUMT00000348309.1	G		-		123594244	1	no_errors	ENST00000340011	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123594244	G	A	123594244	3	1	196	1	0	0	0	0	1	0	0	0	14994	1174	41	2	622	2	SPAM1	7	123594244	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	298007	123594244	35544419	1028	14300											
POT1	25913	genome.wustl.edu	37	chr7	124482955	124482955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggatgcggtattgttgagGagctttttgtttcaaaatgg	13	4	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:124482955G>A	ENST00000357628.3	-	13	1667	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	POT1_ENST00000393329.1_Missense_Mutation_p.P226S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	357					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TATTGTTGAGGAGCTTTTTGT	0.358																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0								ENSG00000128513						124	108	113					7																	124482955		2203	4300	6503	POT1	SO:0001583	missense	0			-	HGNC	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1069C>T	7.37:g.124482955G>A	ENSP00000350249:p.Pro357Ser	Somatic	0	94	0		0.52429534266604	9	43.75	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	92	30.30	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP							pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.P357S	ENST00000357628.3	37	c.1069	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737488	0.89482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.62498	0.02;0.03	5.62	5.62	0.85841	.	0.174265	0.52532	D	0.000065	T	0.80523	0.4639	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.82196	-0.0577	10	0.72032	D	0.01	-22.4313	18.207	0.89858	0.0:0.0:1.0:0.0	.	357	Q9NUX5	POTE1_HUMAN	S	357;226;357;357;356	ENSP00000350249:P357S;ENSP00000377002:P226S	ENSP00000265391:P356S	P	-	1	0	POT1	124270191	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.034000	0.76511	2.641000	0.89580	0.591000	0.81541	CCT	-	NULL		0.358	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	protein_coding	OTTHUMT00000347861.1	G		-		124482955	-1	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124482955	G	A	124482955	3	1	196	1	0	0	0	0	1	0	0	0	12262	1174	41	2	863	2	POT1	7	124482955	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	888711	124482955	34655708	1029	14301											
CCDC136	64753	genome.wustl.edu	37	chr7	128450358	128450358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaagagtctcatttccagGaagtgttggagaatcccgat	10	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128450358G>A	ENST00000297788.4	+	12	2333	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	656						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCATTTCCAGGAAGTGTTGGA	0.433																																																	0								ENSG00000128596						66	63	64					7																	128450358		1949	4148	6097	CCDC136	SO:0001583	missense	0			-	HGNC		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.1966G>A	7.37:g.128450358G>A	ENSP00000297788:p.Glu656Lys	Somatic	0	43	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP							NULL	p.E656K	ENST00000297788.4	37	c.1966	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296874	0.60086	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T;T	0.38077	1.16;1.16	4.94	1.13	0.20643	.	0.612693	0.16076	N	0.230753	T	0.31167	0.0788	L	0.53249	1.67	0.09310	N	1	P;P	0.49559	0.827;0.925	B;B	0.44163	0.35;0.443	T	0.12041	-1.0563	10	0.33141	T	0.24	-1.7149	6.5916	0.22649	0.3889:0.0:0.6111:0.0	.	656;656	Q96JN2-2;Q96JN2	.;CC136_HUMAN	K	656;656;656;247	ENSP00000297788:E656K;ENSP00000417991:E247K	ENSP00000297788:E656K	E	+	1	0	CCDC136	128237594	0.978000	0.34361	0.848000	0.33437	0.010000	0.07245	0.761000	0.26489	0.370000	0.24538	-0.140000	0.14226	GAA	-	NULL		0.433	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	protein_coding	OTTHUMT00000350641.1	G	NM_022742	-		128450358	1	no_errors	ENST00000297788	ensembl	human	known	74_37	missense	SNP	0.099	A	A	128450358	G	A	128450358	3	1	196	1	0	0	0	0	1	0	0	0	2772	1175	41	2	2012	2	CCDC136	7	128450358	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3967403	128450358	30688305	1030	14302											
FLNC	2318	genome.wustl.edu	37	chr7	128493887	128493887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgacctcaacctcaagatCccaggtagaagcctggagga	11	11	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128493887C>T	ENST00000325888.8	+	39	6741	c.6480C>T	c.(6478-6480)atC>atT	p.I2160I	FLNC_ENST00000346177.6_Silent_p.I2127I|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2160					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						ACCTCAAGATCCCAGGTAGAA	0.682																																																	0								ENSG00000128591						29	36	34					7																	128493887		2056	4191	6247	FLNC	SO:0001819	synonymous_variant	0			-	HGNC	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.6480C>T	7.37:g.128493887C>T		Somatic	0	46	0		0.52429534266604	11	68.57	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	56	33.33	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I2160	ENST00000325888.8	37	c.6480	CCDS43644.1	7																																																																																			-	NULL		0.682	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C		-		128493887	1	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	SNP	1.000	T	T	128493887	C	T	128493887	2	4	196	1	0	0	0	0	0	0	0	1	5937	845	30	2		2	FLNC	7	128493887	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	43529	128493887	30644776	1031	14303											
FLNC	2318	genome.wustl.edu	37	chr7	128498132	128498132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagactgtgaccaagtcCtcctcaagccggggctccag	13	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128498132C>T	ENST00000325888.8	+	47	8112	c.7851C>T	c.(7849-7851)tcC>tcT	p.S2617S	FLNC_ENST00000346177.6_Silent_p.S2584S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2617	Hinge 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				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						TGACCAAGTCCTCCTCAAGCC	0.637																																																	0								ENSG00000128591						20	22	21					7																	128498132		2090	4209	6299	FLNC	SO:0001819	synonymous_variant	0			-	HGNC	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.7851C>T	7.37:g.128498132C>T		Somatic	0	103	0		0.52429534266604	54	52.21	59	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	124	32.62	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2617	ENST00000325888.8	37	c.7851	CCDS43644.1	7																																																																																			-	NULL		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C		-		128498132	1	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	SNP	0.002	T	T	128498132	C	T	128498132	2	4	196	1	0	0	0	0	0	0	0	1	5937	668	24	2		2	FLNC	7	128498132	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4245	128498132	30640531	1032	14304											
PODXL	5420	genome.wustl.edu	37	chr7	131191021	131191021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttggggggccgcttacctCctttagttcatcccatttgt	9	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:131191021C>T	ENST00000378555.3	-	7	1556	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	PODXL_ENST00000537928.1_Missense_Mutation_p.E405K|PODXL_ENST00000541194.1_Missense_Mutation_p.E439K|PODXL_ENST00000322985.9_Missense_Mutation_p.E405K			O00592	PODXL_HUMAN	podocalyxin-like	437					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCGCTTACCTCCTTTAGTTCA	0.602																																																	0								ENSG00000128567						112	117	115					7																	131191021		2203	4300	6503	PODXL	SO:0001583	missense	0			-	HGNC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1309G>A	7.37:g.131191021C>T	ENSP00000367817:p.Glu437Lys	Somatic	0	76	0		0.52429534266604	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	59	37.23	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP							pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.E439K	ENST00000378555.3	37	c.1315	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261919	0.59431	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.79	4.79	0.61399	.	0.638091	0.13771	N	0.363894	T	0.22820	0.0551	L	0.45137	1.4	0.09310	N	1	B;B	0.33345	0.356;0.409	B;B	0.39379	0.197;0.298	T	0.15578	-1.0432	10	0.59425	D	0.04	-19.1372	9.4805	0.38898	0.0:0.9017:0.0:0.0983	.	405;437	O00592-2;O00592	.;PODXL_HUMAN	K	439;405;395;437;405	ENSP00000440518:E439K;ENSP00000442655:E405K;ENSP00000367817:E437K;ENSP00000319782:E405K	ENSP00000319782:E405K	E	-	1	0	PODXL	130841561	0.005000	0.15991	0.041000	0.18516	0.241000	0.25554	1.853000	0.39358	2.370000	0.80446	0.561000	0.74099	GAG	-	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1		0.602	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	protein_coding	OTTHUMT00000337627.2	C	NM_001018111	-		131191021	-1	no_errors	ENST00000541194	ensembl	human	known	74_37	missense	SNP	0.030	T	T	131191021	C	T	131191021	3	4	196	1	0	0	0	0	1	0	0	0	12182	864	30	2	379	2	PODXL	7	131191021	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2692889	131191021	27947642	1033	14305											
PLXNA4	91584	genome.wustl.edu	37	chr7	132070006	132070006	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgttgctctgtgggatcGgggtcccgtctgtagctcaa	13	11	3	0	rs541062490		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:132070006G>A	ENST00000359827.3	-	4	2334				PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.R474*			Q9HCM2	PLXA4_HUMAN	plexin A4						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)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGTGGGATCGGGGTCCCGTC	0.493													G|||	1	0.000199681	0	0	5008	,	,		18541	0		0	False		,,,				2504	0.001																0								ENSG00000221866						83	84	84					7																	132070006		1922	4132	6054	PLXNA4	SO:0001627	intron_variant	0			-	HGNC	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.1372-87025C>T	7.37:g.132070006G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP							pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	p.R474*	ENST00000359827.3	37	c.1420	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903384	0.72754	.	.	ENSG00000221866	ENST00000423507	.	.	.	5.23	-3.05	0.05396	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.665	0.17690	0.0:0.2494:0.3963:0.3543	.	.	.	.	X	474	.	ENSP00000392772:R474X	R	-	1	2	PLXNA4	131720546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.306000	0.08178	-0.573000	0.05998	-0.311000	0.09066	CGA	-	smart_Semap_dom,pfscan_Semap_dom		0.493	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	protein_coding	OTTHUMT00000338422.2	G	NM_181775	-		132070006	-1	no_errors	ENST00000423507	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	132070006	G	A	132070006	1	1	196	0	1	0	0	0	0	0	0	0	12124	1124	39	1		1	PLXNA4	7	132070006	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	878985	132070006	27068657	1034	14306											
NUP205	23165	genome.wustl.edu	37	chr7	135309966	135309966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggataaacagcagcagTggcttttgtatctttctaac	9	9	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:135309966T>C	ENST00000285968.6	+	32	4560	c.4534T>C	c.(4534-4536)Tgg>Cgg	p.W1512R		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1512					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)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|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(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACAGCAGCAGTGGCTTTTGTA	0.453																																																	0								ENSG00000155561						159	143	148					7																	135309966		2203	4300	6503	NUP205	SO:0001583	missense	0			-	HGNC	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4534T>C	7.37:g.135309966T>C	ENSP00000285968:p.Trp1512Arg	Somatic	0	124	0		0.52429534266604	21	30	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	101	32.67	A6H8X3|Q86YC1	Missense_Mutation	SNP							pfam_Nup186/Nup192/Nup205	p.W1512R	ENST00000285968.6	37	c.4534	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548351	0.86127	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.49688	-0.8913	10	0.26408	T	0.33	-25.3168	15.9704	0.80013	0.0:0.0:0.0:1.0	.	1512	Q92621	NU205_HUMAN	R	1512	ENSP00000285968:W1512R	ENSP00000285968:W1512R	W	+	1	0	NUP205	134960506	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.928000	0.87587	2.165000	0.68154	0.460000	0.39030	TGG	-	pfam_Nup186/Nup192/Nup205		0.453	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	protein_coding	OTTHUMT00000340358.1	T		-		135309966	1	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135309966	T	C	135309966	3	2	196	1	0	0	0	0	1	0	0	0	10761	1696	59	5	4660	5	NUP205	7	135309966	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3239960	135309966	23828697	1035	14307											
CHRM2	1129	genome.wustl.edu	37	chr7	136699927	136699927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctagccctggactatgtGgtcagcaatgcctcagttat	11	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:136699927G>A	ENST00000445907.2	+	3	843	c.315G>A	c.(313-315)gtG>gtA	p.V105V	CHRM2_ENST00000401861.1_Silent_p.V105V|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Silent_p.V105V|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.V105V|CHRM2_ENST00000402486.3_Silent_p.V105V|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V105V|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	105	Agonist binding. {ECO:0000305}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGACTATGTGGTCAGCAATG	0.478																																																	0								ENSG00000181072						172	162	165					7																	136699927		2203	4300	6503	CHRM2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.315G>A	7.37:g.136699927G>A		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	Q4VBK6|Q9P1X9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.V105	ENST00000445907.2	37	c.315	CCDS5843.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	G		-		136699927	1	no_errors	ENST00000320658	ensembl	human	known	74_37	silent	SNP	0.957	A	A	136699927	G	A	136699927	2	1	196	1	0	0	0	0	0	0	0	1	3379	1335	47	2		2	CHRM2	7	136699927	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1389961	136699927	22438736	1036	14308											
SVOPL	136306	genome.wustl.edu	37	chr7	138313074	138313074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctcagcactggccaGgataaccccatagtaggcaa	10	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:138313074G>A	ENST00000419765.3	-	10	931	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Silent_p.L180L|SVOPL_ENST00000288513.5_Silent_p.L148L|SVOPL_ENST00000436657.1_Silent_p.L148L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	300						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCACTGGCCAGGATAACCCCA	0.572																																																	0								ENSG00000157703						72	71	71					7																	138313074		2203	4300	6503	SVOPL	SO:0001819	synonymous_variant	0			-	HGNC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.898C>T	7.37:g.138313074G>A		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	38	33.33		Silent	SNP							pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L148	ENST00000419765.3	37	c.442	CCDS47721.1	7																																																																																			-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.572	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	protein_coding	OTTHUMT00000342092.4	G	NM_174959	-		138313074	-1	no_errors	ENST00000288513	ensembl	human	known	74_37	silent	SNP	1.000	A	A	138313074	G	A	138313074	2	1	196	1	0	0	0	0	0	0	0	1	15431	991	35	2		2	SVOPL	7	138313074	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1613147	138313074	20825589	1037	14309											
KIAA1549	57670	genome.wustl.edu	37	chr7	138601728	138601728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgctggttgtgctcacttCcgtggaggtgttcagtggca	16	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:138601728C>T	ENST00000422774.1	-	2	2692	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E882K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E832K			Q9HCM3	K1549_HUMAN	KIAA1549	882						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGCTCACTTCCGTGGAGGTG	0.622			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778						38	45	43					7																	138601728		2112	4228	6340	KIAA1549	SO:0001583	missense	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2644G>A	7.37:g.138601728C>T	ENSP00000416040:p.Glu882Lys	Somatic	0	30	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.E882K	ENST00000422774.1	37	c.2644	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759124	0.31137	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24350	1.86;1.86;1.86	4.4	4.4	0.53042	.	0.885967	0.09653	N	0.773442	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	P;P	0.42518	0.675;0.782	B;B	0.40256	0.173;0.324	T	0.03325	-1.1048	10	0.15952	T	0.53	.	11.253	0.49037	0.1819:0.818:0.0:0.0	.	882;882	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	882;832;882	ENSP00000406661:E882K;ENSP00000242365:E832K;ENSP00000416040:E882K	ENSP00000242365:E832K	E	-	1	0	KIAA1549	138252268	0.000000	0.05858	0.007000	0.13788	0.017000	0.09413	0.925000	0.28791	2.297000	0.77311	0.561000	0.74099	GAA	-	NULL		0.622	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	C		-		138601728	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	0.006	T	T	138601728	C	T	138601728	3	4	196	1	0	0	0	0	1	0	0	0	8246	864	30	2	3284	2	KIAA1549	7	138601728	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	288654	138601728	20536935	1038	14310											
JHDM1D	80853	genome.wustl.edu	37	chr7	139801930	139801930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacacacaataggaattcCctgagatttaactggtttgc	9	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:139801930C>T	ENST00000397560.2	-	12	1556	c.1459G>A	c.(1459-1461)Gga>Aga	p.G487R	JHDM1D_ENST00000006967.5_Missense_Mutation_p.G487R	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		487					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAGGAATTCCCTGAGATTTA	0.383																																																	0								ENSG00000006459						151	138	142					7																	139801930		1849	4079	5928	JHDM1D	SO:0001583	missense	0			-	HGNC																												ENST00000397560.2:c.1459G>A	7.37:g.139801930C>T	ENSP00000380692:p.Gly487Arg	Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	61	29.89	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.G487R	ENST00000397560.2	37	c.1459	CCDS43658.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270526	0.80469	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.54866	0.55;0.55	5.58	5.58	0.84498	.	0.362469	0.27522	N	0.018983	T	0.62865	0.2463	L	0.36672	1.1	0.80722	D	1	D	0.59767	0.986	P	0.60682	0.878	T	0.61778	-0.6993	10	0.48119	T	0.1	-23.1152	19.5567	0.95351	0.0:1.0:0.0:0.0	.	487	Q6ZMT4	KDM7_HUMAN	R	487	ENSP00000380692:G487R;ENSP00000006967:G487R	ENSP00000006967:G487R	G	-	1	0	JHDM1D	139448399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.314000	0.72848	2.615000	0.88500	0.655000	0.94253	GGA	-	NULL		0.383	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	protein_coding	OTTHUMT00000348460.1	C		-		139801930	-1	no_errors	ENST00000397560	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139801930	C	T	139801930	3	4	196	1	0	0	0	0	1	0	0	0	7950	632	22	2	1402	2	JHDM1D	7	139801930	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1200202	139801930	19336733	1039	14311											
DENND2A	27147	genome.wustl.edu	37	chr7	140285449	140285449	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaaattcaagacacacttCtttcccaggcagcgaccatg	8	12	2	1	rs368228532		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:140285449C>T	ENST00000275884.6	-	4	1602	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	DENND2A_ENST00000537639.1_Silent_p.K395K|DENND2A_ENST00000496613.1_Silent_p.K395K|DENND2A_ENST00000492720.1_Silent_p.K395K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	395					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGACACACTTCTTTCCCAGGC	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		21991	0		0	False		,,,				2504	0																0								ENSG00000146966	C		1,3957		0,1,1978	178	178	178		1185	5.6	1	7		178	1,8337		0,1,4168	no	coding-synonymous	DENND2A	NM_015689.3		0,2,6146	TT,TC,CC		0.012,0.0253,0.0163		395/1010	140285449	2,12294	1979	4169	6148	DENND2A	SO:0001819	synonymous_variant	0			-	HGNC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1185G>A	7.37:g.140285449C>T		Somatic	0	62	0		0.52429534266604	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	90	18.18	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K395	ENST00000275884.6	37	c.1185	CCDS43659.1	7																																																																																			-	NULL		0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	protein_coding	OTTHUMT00000348742.1	C	NM_015689	-		140285449	-1	no_errors	ENST00000275884	ensembl	human	known	74_37	silent	SNP	1.000	T	T	140285449	C	T	140285449	2	4	196	1	0	0	0	0	0	0	0	1	4431	912	32	2		2	DENND2A	7	140285449	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	483519	140285449	18853214	1040	14312											
BRAF	673	genome.wustl.edu	37	chr7	140494226	140494226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaagggctgtggaattGgaatggattttgaaggagac	17	3	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:140494226G>A	ENST00000288602.6	-	8	1082	c.1022C>T	c.(1021-1023)cCa>cTa	p.P341L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	341					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CTGTGGAATTGGAATGGATTT	0.413		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0								ENSG00000157764						161	155	157					7																	140494226		2203	4300	6503	BRAF	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	-	HGNC	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1022C>T	7.37:g.140494226G>A	ENSP00000288602:p.Pro341Leu	Somatic	0	114	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	145	13.69	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.P341L	ENST00000288602.6	37	c.1022	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.447167	0.96205	.	.	ENSG00000157764	ENST00000288602	T	0.79554	-1.28	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	L	0.44542	1.39	0.80722	D	1	P	0.39216	0.664	B	0.31686	0.134	T	0.76911	-0.2784	10	0.54805	T	0.06	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	341	P15056	BRAF_HUMAN	L	341	ENSP00000288602:P341L	ENSP00000288602:P341L	P	-	2	0	BRAF	140140695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.511000	0.81718	2.753000	0.94483	0.655000	0.94253	CCA	-	NULL		0.413	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	protein_coding	OTTHUMT00000348886.1	G	NM_004333	-		140494226	-1	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140494226	G	A	140494226	3	1	196	1	0	0	0	0	1	0	0	0	1498	1348	47	2	1322	2	BRAF	7	140494226	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	208777	140494226	18644437	1041	14313											
AGK	55750	genome.wustl.edu	37	chr7	141351367	141351367	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcacgtggagggcacGgagtgtctccaagccagcca	14	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141351367G>T	ENST00000355413.4	+	15	1349	c.1089G>T	c.(1087-1089)acG>acT	p.T363T	AGK_ENST00000473247.1_Silent_p.T335T|RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000535825.1_3'UTR	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGAGGGCACGGAGTGTCTCC	0.552																																																	0								ENSG00000006530						108	85	93					7																	141351367		2203	4300	6503	AGK	SO:0001819	synonymous_variant	0			-	HGNC	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1089G>T	7.37:g.141351367G>T		Somatic	0	37	0		0.52429534266604	17	34.62	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	55	32.93	Q75KN1|Q96GC3|Q9NP48	Silent	SNP							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.T363	ENST00000355413.4	37	c.1089	CCDS5865.1	7																																																																																			-	NULL		0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	protein_coding	OTTHUMT00000348969.1	G	NM_018238	-		141351367	1	no_errors	ENST00000355413	ensembl	human	known	74_37	silent	SNP	0.944	T	T	141351367	G	T	141351367	2	4	196	1	0	0	0	0	0	0	0	1	383	1103	39	3		3	AGK	7	141351367	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	857141	141351367	17787296	1042	14314											
WEE2	494551	genome.wustl.edu	37	chr7	141420740	141420740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttctgtctcataggaattCggctttgcatgaagtttatg	9	6	2	1	rs201995482		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141420740C>T	ENST00000397541.2	+	5	1170	c.764C>T	c.(763-765)tCg>tTg	p.S255L	WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					CATAGGAATTCGGCTTTGCAT	0.403																																																	0								ENSG00000214102	C	LEU/SER	0,3758		0,0,1879	145	138	140		764	-5.8	0	7		140	1,8217		0,1,4108	no	missense	WEE2	NM_001105558.1	145	0,1,5987	TT,TC,CC		0.0122,0.0,0.0084	benign	255/568	141420740	1,11975	1879	4109	5988	WEE2	SO:0001583	missense	0			-	HGNC	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.764C>T	7.37:g.141420740C>T	ENSP00000380675:p.Ser255Leu	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	69	17.86		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	p.S255L	ENST00000397541.2	37	c.764	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831169	0.50845	0.0	1.22E-4	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.66280	-0.2;-0.2	5.32	-5.85	0.02311	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.454951	0.19240	N	0.119199	T	0.37461	0.1004	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09487	-1.0672	10	0.24483	T	0.36	.	15.7237	0.77736	0.0:0.5834:0.0:0.4166	.	255	P0C1S8	WEE2_HUMAN	L	255;30	ENSP00000380675:S255L;ENSP00000420388:S30L	ENSP00000380675:S255L	S	+	2	0	WEE2	141067209	0.128000	0.22383	0.000000	0.03702	0.964000	0.63967	0.461000	0.21940	-0.970000	0.03569	-0.946000	0.02672	TCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom		0.403	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	protein_coding	OTTHUMT00000349091.1	C	NM_001105558	rs201995482		141420740	1	no_errors	ENST00000397541	ensembl	human	known	74_37	missense	SNP	0.360	T	T	141420740	C	T	141420740	3	4	196	1	0	0	0	0	1	0	0	0	17352	893	31	1	782	1	WEE2	7	141420740	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	69373	141420740	17717923	1043	14315											
TAS2R5	54429	genome.wustl.edu	37	chr7	141491051	141491051	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgtgctcggagatgctGgggcccatgatctgggaaga	17	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141491051G>A	ENST00000247883.4	+	1	1035	c.890G>A	c.(889-891)tGg>tAg	p.W297*		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	297					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CGGAGATGCTGGGGCCCATGA	0.463																																																	0								ENSG00000127366						79	84	82					7																	141491051		2203	4299	6502	TAS2R5	SO:0001587	stop_gained	0			-	HGNC	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.890G>A	7.37:g.141491051G>A	ENSP00000247883:p.Trp297*	Somatic	0	23	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q645W0|Q75MV7	Nonsense_Mutation	SNP							pfam_TAS2_rcpt	p.W297*	ENST00000247883.4	37	c.890	CCDS5869.1	7	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717339	0.48622	.	.	ENSG00000127366	ENST00000247883	.	.	.	3.87	-0.483	0.12075	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	3.2624	0.06853	0.3923:0.2126:0.395:0.0	.	.	.	.	X	297	.	ENSP00000247883:W297X	W	+	2	0	TAS2R5	141137520	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.508000	0.22692	0.009000	0.14813	0.650000	0.86243	TGG	-	NULL		0.463	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R5	protein_coding	OTTHUMT00000349283.1	G		-		141491051	1	no_errors	ENST00000247883	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	141491051	G	A	141491051	4	1	196	1	0	0	0	0	0	1	0	0	15590	1357	47	2	892	2	TAS2R5	7	141491051	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	70311	141491051	17647612	1044	14316											
MGAM	8972	genome.wustl.edu	37	chr7	141758064	141758064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccagctgtgtcgctatgGctaccagaatgactctgaga	11	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141758064G>A	ENST00000549489.2	+	31	3850	c.3755G>A	c.(3754-3756)gGc>gAc	p.G1252D	MGAM_ENST00000475668.2_Missense_Mutation_p.G1252D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1252	Glucoamylase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTCGCTATGGCTACCAGAAT	0.468																																																	0								ENSG00000257335						244	236	239					7																	141758064		1958	4159	6117	MGAM	SO:0001583	missense	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3755G>A	7.37:g.141758064G>A	ENSP00000447378:p.Gly1252Asp	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	76	26.92	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G1252D	ENST00000549489.2	37	c.3755	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	g	15.36	2.810184	0.50421	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93659	-3.26	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.96965	0.9009	M	0.90759	3.145	0.48632	D	0.999688	D	0.76494	0.999	D	0.77557	0.99	D	0.97758	1.0219	9	0.72032	D	0.01	.	14.3362	0.66592	0.0:0.0:1.0:0.0	.	1252	O43451	MGA_HUMAN	D	1252;1252;1129	ENSP00000447378:G1252D	ENSP00000316431:G1129D	G	+	2	0	MGAM	141404533	1.000000	0.71417	0.884000	0.34674	0.067000	0.16453	9.518000	0.98022	1.623000	0.50342	0.173000	0.16961	GGC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	G		-		141758064	1	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141758064	G	A	141758064	3	1	196	1	0	0	0	0	1	0	0	0	9543	1203	42	2	3873	2	MGAM	7	141758064	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	267013	141758064	17380599	1045	14317											
TAS2R39	259285	genome.wustl.edu	37	chr7	142880796	142880796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgatgttagaaattacCatcagctcaacctccctaag	5	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:142880796C>T	ENST00000446620.1	+	1	285	c.285C>T	c.(283-285)acC>acT	p.T95T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	95					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TAGAAATTACCATCAGCTCAA	0.373																																																	0								ENSG00000236398						114	106	109					7																	142880796		1844	4101	5945	TAS2R39	SO:0001819	synonymous_variant	0			-	HGNC	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.285C>T	7.37:g.142880796C>T		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	37.29	A4FUI7|Q3ZCN6|Q645W4	Silent	SNP							pfam_TAS2_rcpt	p.T95	ENST00000446620.1	37	c.285	CCDS47729.1	7																																																																																			-	pfam_TAS2_rcpt		0.373	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R39	protein_coding	OTTHUMT00000327090.2	C	NM_176881	-		142880796	1	no_errors	ENST00000446620	ensembl	human	known	74_37	silent	SNP	0.000	T	T	142880796	C	T	142880796	2	4	196	1	0	0	0	0	0	0	0	1	15583	581	21	2		2	TAS2R39	7	142880796	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1122732	142880796	16257867	1046	14318											
OR6B1	135946	genome.wustl.edu	37	chr7	143701182	143701182	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagccatgtttctgatattCcttgtggcctatattctgac	8	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143701182C>T	ENST00000408922.2	+	1	161	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	31						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTCTGATATTCCTTGTGGCCT	0.488																																																	0								ENSG00000221813						125	117	120					7																	143701182		2016	4189	6205	OR6B1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.93C>T	7.37:g.143701182C>T		Somatic	0	100	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	87	34.09	A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000408922.2	37	c.93	CCDS43667.1	7																																																																																			-	prints_GPCR_Rhodpsn		0.488	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	protein_coding	OTTHUMT00000349566.1	C		-		143701182	1	no_errors	ENST00000408922	ensembl	human	known	74_37	silent	SNP	0.739	T	T	143701182	C	T	143701182	2	4	196	1	0	0	0	0	0	0	0	1	11189	854	30	2		2	OR6B1	7	143701182	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	820386	143701182	15437481	1047	14319											
OR2A12	346525	genome.wustl.edu	37	chr7	143793092	143793092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggaatgcagaggtgaaaGgggctctaaagagagtcctt	14	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143793092G>A	ENST00000408949.2	+	1	952	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	298						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGAGGTGAAAGGGGCTCTAAA	0.463																																																	0								ENSG00000221858						180	172	175					7																	143793092		1871	4105	5976	OR2A12	SO:0001583	missense	0			-	HGNC		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.892G>A	7.37:g.143793092G>A	ENSP00000386174:p.Gly298Arg	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	Q6IF43	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G298R	ENST00000408949.2	37	c.892	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	g	9.253	1.041351	0.19669	.	.	ENSG00000221858	ENST00000408949	T	0.34472	1.36	4.1	1.22	0.21188	.	.	.	.	.	T	0.23688	0.0573	N	0.17631	0.505	0.09310	N	1	B	0.25904	0.137	B	0.35971	0.215	T	0.33879	-0.9851	9	0.39692	T	0.17	-0.0861	3.4712	0.07567	0.2183:0.0:0.5829:0.1988	.	298	Q8NGT7	O2A12_HUMAN	R	298	ENSP00000386174:G298R	ENSP00000386174:G298R	G	+	1	0	OR2A12	143424025	0.000000	0.05858	0.016000	0.15963	0.223000	0.24884	-0.098000	0.11024	0.060000	0.16281	-0.282000	0.10007	GGG	-	NULL		0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	protein_coding	OTTHUMT00000349969.1	G		-		143793092	1	no_errors	ENST00000408949	ensembl	human	known	74_37	missense	SNP	0.012	A	A	143793092	G	A	143793092	3	1	196	1	0	0	0	0	1	0	0	0	10977	1000	35	2	894	2	OR2A12	7	143793092	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	91910	143793092	15345571	1048	14320											
OR2A14	135941	genome.wustl.edu	37	chr7	143826481	143826481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaggaaagcaccatctcCttttttccatgcataatgca	5	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143826481C>T	ENST00000408899.2	+	1	331	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCACCATCTCCTTTTTTCCAT	0.438																																																	0								ENSG00000221938						301	278	286					7																	143826481		2084	4232	6316	OR2A14	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.276C>T	7.37:g.143826481C>T		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	Q6IF41|Q8NGT8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S92	ENST00000408899.2	37	c.276	CCDS43672.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	protein_coding	OTTHUMT00000349980.1	C		-		143826481	1	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	SNP	0.001	T	T	143826481	C	T	143826481	2	4	196	1	0	0	0	0	0	0	0	1	10978	668	24	2		2	OR2A14	7	143826481	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	33389	143826481	15312182	1049	14321											
OR2A7	401427	genome.wustl.edu	37	chr7	143956673	143956673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaatccttgggccaacggGaaatcccagtaggaggaact	12	10	0	1	rs549494166		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143956673G>A	ENST00000493325.1	-	1	142	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P17S(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGGCCAACGGGAAATCCCAGT	0.493													g|||	1	0.000199681	0	0	5008	,	,		31950	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	lung(2)						ENSG00000243896						102	132	122					7																	143956673		2202	4298	6500	OR2A7	SO:0001583	missense	0			-	HGNC		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.49C>T	7.37:g.143956673G>A	ENSP00000420502:p.Pro17Ser	Somatic	0	354	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	413	15.20	B2RN57|Q6IFP4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.P17S	ENST00000493325.1	37	c.49	CCDS55177.1	7	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.548112	0.00140	.	.	ENSG00000243896	ENST00000493325	T	0.00421	7.46	3.21	3.21	0.36854	.	.	.	.	.	T	0.00109	0.0003	N	0.00823	-1.155	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29150	-1.0021	9	0.02654	T	1	.	6.4366	0.21827	0.133:0.0:0.867:0.0	.	17	Q96R45	OR2A7_HUMAN	S	17	ENSP00000420502:P17S	ENSP00000420502:P17S	P	-	1	0	OR2A7	143587606	0.000000	0.05858	0.733000	0.30861	0.056000	0.15407	0.027000	0.13621	2.082000	0.62665	0.404000	0.27445	CCC	-	NULL		0.493	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	protein_coding	OTTHUMT00000349979.1	G		-		143956673	-1	no_errors	ENST00000493325	ensembl	human	known	74_37	missense	SNP	0.247	A	A	143956673	G	A	143956673	3	1	196	1	0	0	0	0	1	0	0	0	10984	1174	41	2	886	2	OR2A7	7	143956673	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	130192	143956673	15181990	1050	14322											
ARHGEF5	7984	genome.wustl.edu	37	chr7	144068308	144068308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcgcagtctaaacataGctgtggatcatttccaactt	7	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:144068308G>A	ENST00000056217.5	+	6	3760	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.A118T	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1196	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.A1196T(1)		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)					TCTAAACATAGCTGTGGATCA	0.463																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000050327						99	100	100					7																	144068308		2201	4296	6497	ARHGEF5	SO:0001583	missense	0			-	HGNC	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.3586G>A	7.37:g.144068308G>A	ENSP00000056217:p.Ala1196Thr	Somatic	0	277	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	301	10.12	A6NNJ2|Q6ZML7	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A1196T	ENST00000056217.5	37	c.3586	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972305	0.74246	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.63096	-0.02;-0.02	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.059961	0.64402	D	0.000003	T	0.76392	0.3981	M	0.65320	2	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.78097	-0.2337	10	0.56958	D	0.05	-9.4351	15.6627	0.77199	0.0:0.0:1.0:0.0	.	51;1196	B3KQX6;Q12774	.;ARHG5_HUMAN	T	1196;51;118	ENSP00000056217:A1196T;ENSP00000418227:A118T	ENSP00000056217:A1196T	A	+	1	0	ARHGEF5	143699241	1.000000	0.71417	0.985000	0.45067	0.412000	0.31113	9.143000	0.94623	2.376000	0.81061	0.555000	0.69702	GCT	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.463	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	protein_coding	OTTHUMT00000349981.1	G	NM_005435	-		144068308	1	no_errors	ENST00000056217	ensembl	human	known	74_37	missense	SNP	1.000	A	A	144068308	G	A	144068308	3	1	196	1	0	0	0	0	1	0	0	0	909	971	34	2	3604	2	ARHGEF5	7	144068308	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	111635	144068308	15070355	1051	14323											
TPK1	27010	genome.wustl.edu	37	chr7	144463043	144463043	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaggcagtacttcaaattCcctagagaaaaaaagaaagc	7	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:144463043C>T	ENST00000360057.3	-	3	147	c.45G>A	c.(43-45)ggG>ggA	p.G15G	TPK1_ENST00000378099.3_Splice_Site_p.G15G	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	15					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACTTCAAATTCCCTAGAGAAA	0.318																																					Ovarian(45;88 1034 2073 5829 28455)												0								ENSG00000196511						72	81	78					7																	144463043		2203	4299	6502	TPK1	SO:0001630	splice_region_variant	0			-	HGNC	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.44-1G>A	7.37:g.144463043C>T		Somatic	0	25	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP							pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase	p.G15	ENST00000360057.3	37	c.45	CCDS5888.1	7																																																																																			-	superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	protein_coding	OTTHUMT00000327777.1	C	NM_022445	-	Silent	144463043	-1	no_errors	ENST00000360057	ensembl	human	known	74_37	silent	SNP	0.529	T	T	144463043	C	T	144463043	5	4	196	1	0	0	0	0	0	0	1	0	16411	869	30	2	714	2	TPK1	7	144463043	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	394735	144463043	14675620	1052	14324											
ZNF746	155061	genome.wustl.edu	37	chr7	149171627	149171627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggctggcctcgggccgGggtcttggcgcccgctgcat	18	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149171627G>A	ENST00000340622.3	-	7	2063	c.1783C>T	c.(1783-1785)Ccg>Tcg	p.P595S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P596S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	595					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTCGGGCCGGGGTCTTGGCG	0.677																																																	0								ENSG00000181220						30	28	29					7																	149171627		2196	4294	6490	ZNF746	SO:0001583	missense	0			-	HGNC	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1783C>T	7.37:g.149171627G>A	ENSP00000345140:p.Pro595Ser	Somatic	0	12	0		0.52429534266604	17	19.05	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P596S	ENST00000340622.3	37	c.1786	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773932	0.31411	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09538	3.01;2.97	5.58	2.56	0.30785	.	0.292957	0.24312	N	0.039621	T	0.04907	0.0132	N	0.14661	0.345	0.33824	D	0.629354	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.32322	-0.9911	10	0.13108	T	0.6	-7.78	5.4552	0.16586	0.0807:0.265:0.531:0.1233	.	596;595	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	S	595;596	ENSP00000345140:P595S;ENSP00000395007:P596S	ENSP00000345140:P595S	P	-	1	0	ZNF746	148802560	0.000000	0.05858	0.693000	0.30195	0.759000	0.43091	-0.024000	0.12435	0.704000	0.31869	0.462000	0.41574	CCG	-	NULL		0.677	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	protein_coding	OTTHUMT00000352730.1	G	NM_152557	-		149171627	-1	no_errors	ENST00000458143	ensembl	human	known	74_37	missense	SNP	0.896	A	A	149171627	G	A	149171627	3	1	196	1	0	0	0	0	1	0	0	0	18136	1232	43	2	155	2	ZNF746	7	149171627	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4708584	149171627	9967036	1053	14325											
KRBA1	84626	genome.wustl.edu	37	chr7	149425632	149425632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagcccaccaggaagctCcccactgcagggtctggaga	13	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149425632C>T	ENST00000485033.2	+	11	1493	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	KRBA1_ENST00000255992.10_Missense_Mutation_p.S498F|KRBA1_ENST00000319551.8_Missense_Mutation_p.S498F|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	561										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGAAGCTCCCCACTGCAG	0.577																																																	0								ENSG00000133619						127	139	135					7																	149425632		1988	4162	6150	KRBA1	SO:0001583	missense	0			-	HGNC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1493C>T	7.37:g.149425632C>T	ENSP00000420112:p.Ser498Phe	Somatic	0	59	0		0.52429534266604	24	4	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP							NULL	p.S498F	ENST00000485033.2	37	c.1493		7	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345072	0.61073	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.52057	0.68;0.92;0.92	4.72	4.72	0.59763	.	0.000000	0.39834	N	0.001242	T	0.57080	0.2029	L	0.34521	1.04	0.37384	D	0.912182	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65183	-0.6230	10	0.72032	D	0.01	-28.8039	13.1958	0.59738	0.0:1.0:0.0:0.0	.	498;498	E7ENE9;A5PL33	.;KRBA1_HUMAN	F	498	ENSP00000255992:S498F;ENSP00000317165:S498F;ENSP00000420112:S498F	ENSP00000255992:S498F	S	+	2	0	KRBA1	149056565	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.409000	0.34680	2.158000	0.67659	0.655000	0.94253	TCC	-	NULL		0.577	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	protein_coding	OTTHUMT00000349841.3	C	NM_032534	-		149425632	1	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149425632	C	T	149425632	3	4	196	1	0	0	0	0	1	0	0	0	8441	855	30	2	1535	2	KRBA1	7	149425632	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	254005	149425632	9713031	1054	14326											
ZNF862	643641	genome.wustl.edu	37	chr7	149547268	149547268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacccttctgcagaggggCtgtcggaggaggttcctgtg	17	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149547268C>T	ENST00000223210.4	+	5	1203	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGCAGAGGGGCTGTCGGAGGA	0.617																																																	0								ENSG00000106479						67	73	71					7																	149547268		2071	4227	6298	ZNF862	SO:0001819	synonymous_variant	0			-	HGNC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.958C>T	7.37:g.149547268C>T		Somatic	0	80	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	105	21.90	A0AUL8	Silent	SNP							pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.L320	ENST00000223210.4	37	c.958	CCDS47741.1	7																																																																																			-	NULL		0.617	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	protein_coding	OTTHUMT00000350165.1	C	NM_001099220	-		149547268	1	no_errors	ENST00000223210	ensembl	human	known	74_37	silent	SNP	0.173	T	T	149547268	C	T	149547268	2	4	196	1	0	0	0	0	0	0	0	1	18202	796	28	2		2	ZNF862	7	149547268	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	121636	149547268	9591395	1055	14327											
ZNF862	643641	genome.wustl.edu	37	chr7	149558298	149558298	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctggatgagctggacatCcccttccggaagcctggctg	13	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149558298C>T	ENST00000223210.4	+	7	2294	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	683					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGCTGGACATCCCCTTCCGGA	0.582																																																	0								ENSG00000106479						24	26	26					7																	149558298		2062	4189	6251	ZNF862	SO:0001819	synonymous_variant	0			-	HGNC	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2049C>T	7.37:g.149558298C>T		Somatic	0	46	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.77	A0AUL8	Silent	SNP							pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.I683	ENST00000223210.4	37	c.2049	CCDS47741.1	7																																																																																			-	superfamily_RNaseH-like_dom		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	protein_coding	OTTHUMT00000350165.1	C	NM_001099220	-		149558298	1	no_errors	ENST00000223210	ensembl	human	known	74_37	silent	SNP	1.000	T	T	149558298	C	T	149558298	2	4	196	1	0	0	0	0	0	0	0	1	18202	845	30	2		2	ZNF862	7	149558298	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	11030	149558298	9580365	1056	14328											
GIMAP4	55303	genome.wustl.edu	37	chr7	150269276	150269276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttagtgggtaaaaccGgagcaggaaaaagtgcaaca	13	5	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150269276G>A	ENST00000255945.2	+	3	293	c.118G>A	c.(118-120)Gga>Aga	p.G40R	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.G54R	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	40	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTAAAACCGGAGCAGGAAA	0.453																																																	0								ENSG00000133574						74	79	78					7																	150269276		2203	4300	6503	GIMAP4	SO:0001583	missense	0			-	HGNC	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.118G>A	7.37:g.150269276G>A	ENSP00000255945:p.Gly40Arg	Somatic	0	47	0		0.52429534266604	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	29.03		Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.G40R	ENST00000255945.2	37	c.118	CCDS5904.1	7	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319619	0.60524	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938;ENST00000479232	T;T;T	0.63580	-0.05;-0.05;-0.05	4.61	4.61	0.57282	AIG1 (1);	0.056880	0.64402	D	0.000001	T	0.82029	0.4948	M	0.91872	3.25	0.46849	D	0.99922	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	D	0.85624	0.1266	10	0.72032	D	0.01	.	12.8024	0.57594	0.0:0.0:1.0:0.0	.	54;40	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	R	40;54;40;54	ENSP00000255945:G40R;ENSP00000419545:G54R;ENSP00000418615:G54R	ENSP00000255945:G40R	G	+	1	0	GIMAP4	149900209	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.073000	0.64395	2.416000	0.81992	0.655000	0.94253	GGA	-	pfam_AIG1,superfamily_P-loop_NTPase		0.453	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP4	protein_coding	OTTHUMT00000348927.1	G	NM_018326	-		150269276	1	no_errors	ENST00000255945	ensembl	human	known	74_37	missense	SNP	1.000	A	A	150269276	G	A	150269276	3	1	196	1	0	0	0	0	1	0	0	0	6383	1117	39	1	124	1	GIMAP4	7	150269276	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	710978	150269276	8869387	1057	14329											
GIMAP2	26157	genome.wustl.edu	37	chr7	150389535	150389535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttgaatcgaagctgggttCccagaccttgactaagactt	9	9	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150389535C>T	ENST00000223293.5	+	3	255	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	54	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCTGGGTTCCCAGACCTTG	0.473																																																	0								ENSG00000106560						77	73	74					7																	150389535		2203	4300	6503	GIMAP2	SO:0001583	missense	0			-	HGNC	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.161C>T	7.37:g.150389535C>T	ENSP00000223293:p.Ser54Phe	Somatic	0	59	0		0.52429534266604	16	33.33	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	54	26.03	Q96L25	Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.S54F	ENST00000223293.5	37	c.161	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995833	0.54147	.	.	ENSG00000106560	ENST00000223293	T	0.60797	0.16	3.8	3.8	0.43715	AIG1 (1);	0.339595	0.27636	N	0.018483	T	0.46425	0.1392	L	0.28556	0.865	0.80722	D	1	P	0.49635	0.926	B	0.43838	0.433	T	0.49688	-0.8913	10	0.51188	T	0.08	.	11.3267	0.49452	0.0:1.0:0.0:0.0	.	54	Q9UG22	GIMA2_HUMAN	F	54	ENSP00000223293:S54F	ENSP00000223293:S54F	S	+	2	0	GIMAP2	150020468	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	0.722000	0.25925	2.137000	0.66172	0.609000	0.83330	TCC	-	pfam_AIG1,superfamily_P-loop_NTPase		0.473	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	protein_coding	OTTHUMT00000348948.1	C	NM_015660	-		150389535	1	no_errors	ENST00000223293	ensembl	human	known	74_37	missense	SNP	0.023	T	T	150389535	C	T	150389535	3	4	196	1	0	0	0	0	1	0	0	0	6382	855	30	2	167	2	GIMAP2	7	150389535	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	120259	150389535	8749128	1058	14330											
TMEM176A	55365	genome.wustl.edu	37	chr7	150500762	150500762	+	Missense_Mutation	SNP	C	C	T													tctccacagccatcgctgccCtcaaactttggaatgaagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150500762C>T	ENST00000484928.1	+	5	978	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L74F|TMEM176A_ENST00000004103.3_Missense_Mutation_p.L133F			Q96HP8	T176A_HUMAN	transmembrane protein 176A	133					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.L133I(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGCTGCCCTCAAACTTTG	0.537																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000002933						79	84	82					7																	150500762		2203	4300	6503	TMEM176A	SO:0001583	missense	0			-	HGNC	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.397C>T	7.37:g.150500762C>T	ENSP00000417626:p.Leu133Phe	Somatic	0	71	0		0.52429534266604	562	42.91	427	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	60	34.07	D3DX00|Q9NYC7	Missense_Mutation	SNP							pfam_CD20-like	p.L133F	ENST00000484928.1	37	c.397	CCDS5909.1	7	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063530	0.36373	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27	3.56	1.21	0.21127	.	0.285245	0.31949	N	0.006814	T	0.01905	0.0060	N	0.19112	0.55	0.09310	N	1	B	0.33413	0.411	B	0.33890	0.172	T	0.45469	-0.9259	10	0.46703	T	0.11	-23.5998	3.7978	0.08746	0.6384:0.2395:0.122:0.0	.	133	Q96HP8	T176A_HUMAN	F	133;133;74;85;74	ENSP00000417626:L133F;ENSP00000004103:L133F;ENSP00000420818:L74F;ENSP00000417834:L85F;ENSP00000420081:L74F	ENSP00000004103:L133F	L	+	1	0	TMEM176A	150131695	0.031000	0.19500	0.003000	0.11579	0.004000	0.04260	-0.003000	0.12901	0.265000	0.21872	-0.410000	0.06199	CTC	-	pfam_CD20-like		0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	protein_coding	OTTHUMT00000350222.1	C	NM_018487	-		150500762	1	no_errors	ENST00000004103	ensembl	human	known	74_37	missense	SNP	0.003	T	T	150500762	C	T	150500762	3	4	196	1	0	0	0	0	1	0	0	0	16099	681	24	2	411	2	TMEM176A	7	150500762	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	111227	150500762	8637901	1059	14331	286	2									
TMEM176A	55365	genome.wustl.edu	37	chr7	150500764	150500764	+	Silent	SNP	C	C	T													tccacagccatcgctgccctCaaactttggaatgaagattt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150500764C>T	ENST00000484928.1	+	5	980	c.399C>T	c.(397-399)ctC>ctT	p.L133L	TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Silent_p.L74L|TMEM176A_ENST00000004103.3_Silent_p.L133L			Q96HP8	T176A_HUMAN	transmembrane protein 176A	133					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCTGCCCTCAAACTTTGGA	0.537																																																	0								ENSG00000002933						79	84	82					7																	150500764		2203	4300	6503	TMEM176A	SO:0001819	synonymous_variant	0			-	HGNC	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.399C>T	7.37:g.150500764C>T		Somatic	0	73	0		0.52429534266604	530	42.03	385	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	60	34.07	D3DX00|Q9NYC7	Silent	SNP							pfam_CD20-like	p.L133	ENST00000484928.1	37	c.399	CCDS5909.1	7																																																																																			-	pfam_CD20-like		0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	protein_coding	OTTHUMT00000350222.1	C	NM_018487	-		150500764	1	no_errors	ENST00000004103	ensembl	human	known	74_37	silent	SNP	0.000	T	T	150500764	C	T	150500764	2	4	196	1	0	0	0	0	0	0	0	1	16099	813	29	2		2	TMEM176A	7	150500764	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	150500764	8637899	1060	14332	286	2									
ABP1	26	genome.wustl.edu	37	chr7	150554585	150554585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaacgtgcacttcggcGgagagcgcattgcctatgag	13	11	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150554585G>A	ENST00000493429.1	+	4	1611	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	AOC1_ENST00000360937.4_Missense_Mutation_p.G343R|AOC1_ENST00000467291.1_Missense_Mutation_p.G343R|AOC1_ENST00000416793.2_Missense_Mutation_p.G343R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	343					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GCACTTCGGCGGAGAGCGCAT	0.632																																																	0								ENSG00000002726						57	58	58					7																	150554585		2203	4300	6503	AOC1	SO:0001583	missense	0			-	HGNC	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1027G>A	7.37:g.150554585G>A	ENSP00000418614:p.Gly343Arg	Somatic	0	38	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP							pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.G343R	ENST00000493429.1	37	c.1027	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338599	0.41398	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	4.96	2.13	0.27403	Copper amine oxidase, C-terminal (3);	0.172250	0.50627	D	0.000110	T	0.20700	0.0498	M	0.90595	3.13	0.42403	D	0.99257	D;B	0.89917	1.0;0.293	D;B	0.72625	0.978;0.135	T	0.00395	-1.1766	10	0.87932	D	0	-19.1735	5.8987	0.18953	0.1685:0.0:0.6686:0.1629	.	343;343	C9J690;P19801	.;ABP1_HUMAN	R	343;343;343;343;219	ENSP00000418614:G343R;ENSP00000418328:G343R;ENSP00000354193:G343R;ENSP00000411613:G343R	ENSP00000354193:G343R	G	+	1	0	ABP1	150185518	1.000000	0.71417	0.004000	0.12327	0.161000	0.22273	3.577000	0.53885	0.353000	0.24079	0.561000	0.74099	GGA	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.632	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	protein_coding	OTTHUMT00000350628.1	G	NM_001091	-		150554585	1	no_errors	ENST00000416793	ensembl	human	known	74_37	missense	SNP	0.698	A	A	150554585	G	A	150554585	3	1	196	1	0	0	0	0	1	0	0	0	98	1117	39	1	1029	1	ABP1	7	150554585	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	53821	150554585	8584078	1061	14333											
ABCB8	11194	genome.wustl.edu	37	chr7	150741290	150741290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcattgtcgtcatggcCgatggccgtgtctgggaggt	15	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150741290C>T	ENST00000297504.6	+	16	2115	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	ABCB8_ENST00000542328.1_Silent_p.A578A|ABCB8_ENST00000358849.4_Silent_p.A666A|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	683	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TCGTCATGGCCGATGGCCGTG	0.607																																																	0								ENSG00000197150						113	85	95					7																	150741290		2202	4300	6502	ABCB8	SO:0001819	synonymous_variant	0			-	HGNC	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2049C>T	7.37:g.150741290C>T		Somatic	0	46	0		0.52429534266604	150	38.87	96	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	51	40.00	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A683	ENST00000297504.6	37	c.2049		7																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.607	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	protein_coding	OTTHUMT00000351733.2	C	NM_007188	-		150741290	1	no_errors	ENST00000297504	ensembl	human	known	74_37	silent	SNP	0.177	T	T	150741290	C	T	150741290	2	4	196	1	0	0	0	0	0	0	0	1	47	639	23	1		1	ABCB8	7	150741290	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	186705	150741290	8397373	1062	14334											
FASTK	10922	genome.wustl.edu	37	chr7	150776005	150776005	+	Silent	SNP	C	C	G													agagcagcttccaacccttgCccacctcggagaaggggctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150776005C>G	ENST00000297532.6	-	3	686	c.609G>C	c.(607-609)ggG>ggC	p.G203G	FASTK_ENST00000353841.2_Silent_p.G62G|FASTK_ENST00000482571.1_Intron|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000540185.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	203					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCAACCCTTGCCCACCTCGGA	0.612																																																	0								ENSG00000164896						27	27	27					7																	150776005		2202	4299	6501	FASTK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.609G>C	7.37:g.150776005C>G		Somatic	0	51	0		0.52429534266604	120	44.7	97	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	52	43.48	A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP							pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.G203	ENST00000297532.6	37	c.609	CCDS5918.1	7																																																																																			-	NULL		0.612	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	protein_coding	OTTHUMT00000351832.2	C	NM_006712	-		150776005	-1	no_errors	ENST00000297532	ensembl	human	known	74_37	silent	SNP	0.999	G	G	150776005	C	G	150776005	2	3	196	1	0	0	0	0	0	0	0	1	5686	726	26	4		4	FASTK	7	150776005	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	34715	150776005	8362658	1063	14335	287	2									
FASTK	10922	genome.wustl.edu	37	chr7	150776010	150776010	+	Missense_Mutation	SNP	C	C	T													agcttccaacccttgcccacCtcggagaaggggctgcaaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150776010C>T	ENST00000297532.6	-	3	681	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	FASTK_ENST00000353841.2_Missense_Mutation_p.G61S|FASTK_ENST00000482571.1_Splice_Site_p.E202K|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	202					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCTTGCCCACCTCGGAGAAGG	0.617																																																	0								ENSG00000164896						26	25	25					7																	150776010		2201	4299	6500	FASTK	SO:0001583	missense	0			-	HGNC		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.604G>A	7.37:g.150776010C>T	ENSP00000297532:p.Gly202Ser	Somatic	0	49	0		0.52429534266604	146	37.29	88	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	50	43.18	A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP							pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.G202S	ENST00000297532.6	37	c.604	CCDS5918.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.376063|2.376063	0.42105|0.42105	.|.	.|.	ENSG00000164896|ENSG00000164896	ENST00000482571|ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532	T|T;T	0.31510|0.28069	1.49|1.63;1.87	4.31|4.31	4.31|4.31	0.51392|0.51392	.|.	.|0.114423	.|0.35585	.|N	.|0.003103	T|T	0.32793|0.32793	0.0841|0.0841	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D;D	0.61697|0.89917	0.99|1.0;1.0	P|D;D	0.55999|0.85130	0.789|0.997;0.986	T|T	0.20207|0.20207	-1.0282|-1.0282	9|10	0.07990|0.33940	T|T	0.79|0.23	-1.4014|-1.4014	13.0314|13.0314	0.58845|0.58845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	202|61;202	F8VTW9|Q8IVA0;Q14296	.|.;FASTK_HUMAN	K|S	202|202;202;61;202	ENSP00000418516:E202K|ENSP00000324817:G61S;ENSP00000297532:G202S	ENSP00000418516:E202K|ENSP00000297530:G202S	E|G	-|-	1|1	0|0	FASTK|FASTK	150406943|150406943	0.808000|0.808000	0.29022|0.29022	0.936000|0.936000	0.37596|0.37596	0.730000|0.730000	0.41778|0.41778	2.057000|2.057000	0.41365|0.41365	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	GAG|GGT	-	NULL		0.617	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	protein_coding	OTTHUMT00000351832.2	C	NM_006712	-		150776010	-1	no_errors	ENST00000297532	ensembl	human	known	74_37	missense	SNP	0.987	T	T	150776010	C	T	150776010	3	4	196	1	0	0	0	0	1	0	0	0	5686	681	24	2	1077	2	FASTK	7	150776010	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5	150776010	8362653	1064	14336	287	2									
MLL3	58508	genome.wustl.edu	37	chr7	151871280	151871280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttatttatacctttaaGggccaccattttggctttca	5	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:151871280G>A	ENST00000262189.6	-	39	9528	c.9310C>T	c.(9310-9312)Ctt>Ttt	p.L3104F	KMT2C_ENST00000355193.2_Missense_Mutation_p.L3104F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3104	Gln-rich.				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)										ATACCTTTAAGGGCCACCATT	0.378																																																	0								ENSG00000055609						125	124	124					7																	151871280		2203	4300	6503	KMT2C	SO:0001583	missense	0			-	HGNC	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.9310C>T	7.37:g.151871280G>A	ENSP00000262189:p.Leu3104Phe	Somatic	0	57	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	57	32.94	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3104F	ENST00000262189.6	37	c.9310	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.158833|3.158833	0.57368|0.57368	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.88354|.	-2.37;-2.37|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.41823|.	D|.	0.000804|.	T|T	0.78201|0.78201	0.4246|0.4246	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.994;0.982|.	T|T	0.77744|0.77744	-0.2473|-0.2473	10|5	0.87932|.	D|.	0|.	.|.	19.4131|19.4131	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3104;2165;3104|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	F|L	3104|609	ENSP00000262189:L3104F;ENSP00000347325:L3104F|.	ENSP00000262189:L3104F|.	L|P	-|-	1|2	0|0	MLL3|MLL3	151502213|151502213	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	5.413000|5.413000	0.66399|0.66399	2.585000|2.585000	0.87301|0.87301	0.650000|0.650000	0.86243|0.86243	CTT|CCT	-	NULL		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	G		-		151871280	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151871280	G	A	151871280	3	1	196	1	0	0	0	0	1	0	0	0	9624	1000	35	2	5509	2	MLL3	7	151871280	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1095270	151871280	7267383	1065	14337											
DPP6	1804	genome.wustl.edu	37	chr7	154677385	154677385	+	Missense_Mutation	SNP	G	G	A													cctacatcctcccagcaaagGgagaaaatcaaggccagaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:154677385G>A	ENST00000377770.3	+	22	2317	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	DPP6_ENST00000332007.3_Missense_Mutation_p.G664R|DPP6_ENST00000404039.1_Missense_Mutation_p.G662R|DPP6_ENST00000427557.1_Missense_Mutation_p.G619R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	726					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCCAGCAAAGGGAGAAAATCA	0.522																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						63	67	66					7																	154677385		2004	4182	6186	DPP6	SO:0001583	missense	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2176G>A	7.37:g.154677385G>A	ENSP00000367001:p.Gly726Arg	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	47	39.24		Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G726R	ENST00000377770.3	37	c.2176		7	.	.	.	.	.	.	.	.	.	.	G	6.753	0.507720	0.12883	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.43	3.57	0.40892	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.494637	0.22560	N	0.058471	T	0.33147	0.0853	L	0.39633	1.23	0.26873	N	0.967717	B;B;B;B	0.32918	0.166;0.263;0.39;0.201	B;B;B;B	0.32583	0.148;0.085;0.139;0.139	T	0.14671	-1.0464	10	0.41790	T	0.15	-0.1627	10.6247	0.45500	0.1612:0.0:0.8388:0.0	.	619;664;726;662	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	662;726;664;619	ENSP00000385578:G662R;ENSP00000367001:G726R;ENSP00000328226:G664R;ENSP00000397303:G619R	ENSP00000328226:G664R	G	+	1	0	DPP6	154308318	0.765000	0.28485	0.193000	0.23327	0.002000	0.02628	1.059000	0.30517	0.611000	0.30052	-0.218000	0.12543	GGA	-	pfam_Peptidase_S9		0.522	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	G	NM_130797	-		154677385	1	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	SNP	0.601	A	A	154677385	G	A	154677385	3	1	196	1	0	0	0	0	1	0	0	0	4732	1233	43	2	2378	2	DPP6	7	154677385	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2806105	154677385	4461278	1066	14338	288	2									
DPP6	1804	genome.wustl.edu	37	chr7	154677386	154677386	+	Missense_Mutation	SNP	G	G	A													ctacatcctcccagcaaaggGagaaaatcaaggccagacat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:154677386G>A	ENST00000377770.3	+	22	2318	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	DPP6_ENST00000332007.3_Missense_Mutation_p.G664E|DPP6_ENST00000404039.1_Missense_Mutation_p.G662E|DPP6_ENST00000427557.1_Missense_Mutation_p.G619E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	726					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAGCAAAGGGAGAAAATCAA	0.517																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						63	68	66					7																	154677386		2004	4183	6187	DPP6	SO:0001583	missense	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2177G>A	7.37:g.154677386G>A	ENSP00000367001:p.Gly726Glu	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	48	39.24		Missense_Mutation	SNP							pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G726E	ENST00000377770.3	37	c.2177		7	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.158831	0.01686	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	-4.1	0.03940	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.494637	0.22560	N	0.058471	T	0.21227	0.0511	L	0.41632	1.29	0.19300	N	0.999979	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.08086	-1.0739	10	0.25106	T	0.35	-0.1627	0.7419	0.00975	0.2576:0.2933:0.2429:0.2063	.	619;664;726;662	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	662;726;664;619	ENSP00000385578:G662E;ENSP00000367001:G726E;ENSP00000328226:G664E;ENSP00000397303:G619E	ENSP00000328226:G664E	G	+	2	0	DPP6	154308319	0.016000	0.18221	0.007000	0.13788	0.001000	0.01503	0.167000	0.16602	-0.247000	0.09597	-0.282000	0.10007	GGA	-	pfam_Peptidase_S9		0.517	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	G	NM_130797	-		154677386	1	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	SNP	0.000	A	A	154677386	G	A	154677386	3	1	196	1	0	0	0	0	1	0	0	0	4732	1174	41	2	2379	2	DPP6	7	154677386	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	154677386	4461277	1067	14339	288	2									
RBM33	155435	genome.wustl.edu	37	chr7	155473578	155473578	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagtgttagacatcgagatCaatgaacctttagatgaatt	9	5	1	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:155473578C>T	ENST00000401878.3	+	5	741	c.543C>T	c.(541-543)atC>atT	p.I181I	RBM33_ENST00000287912.3_Silent_p.I181I|RBM33_ENST00000392759.3_Silent_p.I181I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	181	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACATCGAGATCAATGAACCTT	0.418																																																	0								ENSG00000184863						90	87	88					7																	155473578		1937	4146	6083	RBM33	SO:0001819	synonymous_variant	0			-	HGNC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.543C>T	7.37:g.155473578C>T		Somatic	0	41	0		0.52429534266604	8	50	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP							smart_RRM_dom	p.I181	ENST00000401878.3	37	c.543	CCDS5941.2	7																																																																																			-	NULL		0.418	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	protein_coding	OTTHUMT00000317225.3	C	NM_001008408	-		155473578	1	no_errors	ENST00000401878	ensembl	human	known	74_37	silent	SNP	1.000	T	T	155473578	C	T	155473578	2	4	196	1	0	0	0	0	0	0	0	1	13138	816	29	2		2	RBM33	7	155473578	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	796192	155473578	3665085	1068	14340											
PTPRN2	5799	genome.wustl.edu	37	chr7	157475569	157475569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagaccagggtgagcgCgatgaacttggtggagtctt	18	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:157475569C>T	ENST00000389418.4	-	13	1858	c.1849G>A	c.(1849-1851)Gcg>Acg	p.A617T	PTPRN2_ENST00000409483.1_Missense_Mutation_p.A579T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A600T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A640T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A588T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	617					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)			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)		AGGGTGAGCGCGATGAACTTG	0.577																																																	0								ENSG00000155093						112	114	113					7																	157475569		2203	4300	6503	PTPRN2	SO:0001583	missense	0			-	HGNC	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.1849G>A	7.37:g.157475569C>T	ENSP00000374069:p.Ala617Thr	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A640T	ENST00000389418.4	37	c.1918	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817263	0.16607	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03035	4.08;4.09;4.08;4.08;4.07	4.73	-0.5	0.12012	.	0.650367	0.12584	N	0.456142	T	0.01287	0.0042	N	0.03608	-0.345	0.09310	N	0.999992	B;B;P;P;B	0.39094	0.248;0.063;0.576;0.659;0.063	B;B;B;B;B	0.31390	0.009;0.004;0.129;0.036;0.004	T	0.44787	-0.9305	10	0.59425	D	0.04	.	1.2533	0.01986	0.1275:0.2734:0.2811:0.318	.	640;579;588;600;617	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	579;588;600;617;640	ENSP00000387114:A579T;ENSP00000374064:A588T;ENSP00000374067:A600T;ENSP00000374069:A617T;ENSP00000385464:A640T	ENSP00000374064:A588T	A	-	1	0	PTPRN2	157168330	0.231000	0.23751	0.094000	0.20943	0.186000	0.23388	0.525000	0.22956	0.051000	0.15978	0.655000	0.94253	GCG	-	NULL		0.577	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	C		-		157475569	-1	no_errors	ENST00000404321	ensembl	human	known	74_37	missense	SNP	0.027	T	T	157475569	C	T	157475569	3	4	196	1	0	0	0	0	1	0	0	0	12816	768	27	1	1242	1	PTPRN2	7	157475569	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2001991	157475569	1663094	1069	14341											
PTPRN2	5799	genome.wustl.edu	37	chr7	157959837	157959837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccacaccactgtccacCttagggctgagctcatctgg	9	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:157959837C>T	ENST00000389418.4	-	6	705	c.696G>A	c.(694-696)aaG>aaA	p.K232K	PTPRN2_ENST00000409483.1_Silent_p.K194K|PTPRN2_ENST00000389416.4_Silent_p.K215K|PTPRN2_ENST00000404321.2_Silent_p.K255K|PTPRN2_ENST00000389413.3_Silent_p.K232K	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	232					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)			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)		CACTGTCCACCTTAGGGCTGA	0.701																																																	0								ENSG00000155093						40	36	37					7																	157959837		2203	4299	6502	PTPRN2	SO:0001819	synonymous_variant	0			-	HGNC	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.696G>A	7.37:g.157959837C>T		Somatic	0	89	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	110	15.38	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K255	ENST00000389418.4	37	c.765	CCDS5947.1	7																																																																																			-	NULL		0.701	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	C		-		157959837	-1	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	SNP	0.024	T	T	157959837	C	T	157959837	2	4	196	1	0	0	0	0	0	0	0	1	12816	680	24	2		2	PTPRN2	7	157959837	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	484268	157959837	1178826	1070	14342											
DLGAP2	9228	genome.wustl.edu	37	chr8	1497302	1497302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgagagccccgggcGgatccgccacctggtacact	14	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:1497302G>A	ENST00000421627.2	+	2	577	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	227					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCCCCGGGCGGATCCGCCAC	0.677																																																	0								ENSG00000198010						10	13	12					8																	1497302		2103	4222	6325	DLGAP2	SO:0001583	missense	0			-	HGNC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.443G>A	8.37:g.1497302G>A	ENSP00000400258:p.Arg148Gln	Somatic	0	11	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP							pfam_GKAP	p.R148Q	ENST00000421627.2	37	c.443	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.281186|4.281186	0.80692|0.80692	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.19532	.|2.14	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57257|0.57257	0.2041|0.2041	M|M	0.89601|0.89601	3.045|3.045	0.44694|0.44694	D|D	0.997683|0.997683	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.65899|0.65899	-0.6056|-0.6056	5|10	.|0.87932	.|D	.|0	-13.1539|-13.1539	19.5381|19.5381	0.95262|0.95262	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227;227	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	R|Q	165|193;148	.|ENSP00000400258:R148Q	.|ENSP00000348366:R193Q	G|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1484709|1484709	0.998000|0.998000	0.40836|0.40836	0.008000|0.008000	0.14137|0.14137	0.156000|0.156000	0.22039|0.22039	7.538000|7.538000	0.82048|0.82048	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	GGA|CGG	-	NULL		0.677	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	protein_coding	OTTHUMT00000374478.1	G	NM_004745	-		1497302	1	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	SNP	0.991	A	A	1497302	G	A	1497302	3	1	196	1	0	0	0	0	1	0	0	0	4562	1116	39	1	445	1	DLGAP2	8	1497302	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		1497302	144866720	1071	14343											
CSMD1	64478	genome.wustl.edu	37	chr8	2857542	2857542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatatcctcacggaagttCccacaagccggaaaccagga	10	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:2857542C>T	ENST00000520002.1	-	54	8699	c.8144G>A	c.(8143-8145)gGa>gAa	p.G2715E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2657E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2657E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2715E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2656E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2714E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2715	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		CACGGAAGTTCCCACAAGCCG	0.517																																																	0								ENSG00000183117						156	155	155					8																	2857542		1965	4152	6117	CSMD1	SO:0001583	missense	0			-	HGNC			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.8144G>A	8.37:g.2857542C>T	ENSP00000430733:p.Gly2715Glu	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	44	22.81	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G2715E	ENST00000520002.1	37	c.8144		8	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847883	0.71603	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.77	5.77	0.91146	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90665	0.7072	H	0.97707	4.06	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	0.93049	0.6464	10	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	2715;2715;2656	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	E	2657;2715;2576;2714;2656	ENSP00000383047:G2657E;ENSP00000430733:G2715E;ENSP00000441462:G2714E;ENSP00000446243:G2656E	ENSP00000320445:G2576E	G	-	2	0	CSMD1	2844949	1.000000	0.71417	0.223000	0.23860	0.026000	0.11368	7.570000	0.82390	2.884000	0.98904	0.655000	0.94253	GGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		2857542	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2857542	C	T	2857542	3	4	196	1	0	0	0	0	1	0	0	0	3946	855	30	2	2625	2	CSMD1	8	2857542	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1360240	2857542	143506480	1072	14344											
CSMD1	64478	genome.wustl.edu	37	chr8	2976057	2976057	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctgtaatccgagttgatCatgtacccattctgaaatgg	9	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:2976057C>T	ENST00000520002.1	-	43	6852	c.6297G>A	c.(6295-6297)atG>atA	p.M2099I	CSMD1_ENST00000602723.1_Missense_Mutation_p.M2099I|CSMD1_ENST00000400186.3_Missense_Mutation_p.M2099I|CSMD1_ENST00000602557.1_Missense_Mutation_p.M2099I|CSMD1_ENST00000542608.1_Missense_Mutation_p.M2098I|CSMD1_ENST00000537824.1_Missense_Mutation_p.M2098I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2099	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		CCGAGTTGATCATGTACCCAT	0.418																																																	0								ENSG00000183117						140	137	138					8																	2976057		2001	4166	6167	CSMD1	SO:0001583	missense	0			-	HGNC			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.6297G>A	8.37:g.2976057C>T	ENSP00000430733:p.Met2099Ile	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	95	10.38	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.M2099I	ENST00000520002.1	37	c.6297		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.438|9.438	1.087322|1.087322	0.20390|0.20390	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.61158	.|0.13;0.13;0.13;0.13	5.03|5.03	4.14|4.14	0.48551|0.48551	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.126603	.|0.51477	.|N	.|0.000088	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.01081|0.01081	-1.03|-1.03	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.53885	.|0.963;0.0;0.0	.|D;B;B	.|0.64776	.|0.929;0.002;0.003	T|T	0.45234|0.45234	-0.9275|-0.9275	5|10	.|0.41790	.|T	.|0.15	.|.	4.1479|4.1479	0.10224|0.10224	0.0:0.5926:0.2291:0.1783|0.0:0.5926:0.2291:0.1783	.|.	.|2099;2099;2098	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	N|I	1579|2099;2099;1960;2098;2098	.|ENSP00000383047:M2099I;ENSP00000430733:M2099I;ENSP00000441462:M2098I;ENSP00000446243:M2098I	.|ENSP00000320445:M1960I	D|M	-|-	1|3	0|0	CSMD1|CSMD1	2963464|2963464	0.957000|0.957000	0.32711|0.32711	0.998000|0.998000	0.56505|0.56505	0.892000|0.892000	0.51952|0.51952	0.654000|0.654000	0.24918|0.24918	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAT|ATG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		2976057	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.946	T	T	2976057	C	T	2976057	3	4	196	1	0	0	0	0	1	0	0	0	3946	826	29	2	4516	2	CSMD1	8	2976057	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	118515	2976057	143387965	1073	14345											
CSMD1	64478	genome.wustl.edu	37	chr8	3087633	3087633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaggtgattttggcttgtCcttggagctgatagccaggg	14	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:3087633C>T	ENST00000520002.1	-	28	4832	c.4277G>A	c.(4276-4278)gGa>gAa	p.G1426E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1426E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1426E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1426E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1425E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1425E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1425E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1426	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		TTTGGCTTGTCCTTGGAGCTG	0.493																																																	0								ENSG00000183117						93	94	94					8																	3087633		1978	4165	6143	CSMD1	SO:0001583	missense	0			-	HGNC			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.4277G>A	8.37:g.3087633C>T	ENSP00000430733:p.Gly1426Glu	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	60	37.50	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G1426E	ENST00000520002.1	37	c.4277		8	.	.	.	.	.	.	.	.	.	.	C	35	5.437589	0.96168	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.16	6.16	0.99307	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.91119	0.7204	H	0.98111	4.15	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	0.93089	0.6498	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1426;1426;1426	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	E	1426;1426;1288;1425;1425;1425	ENSP00000383047:G1426E;ENSP00000430733:G1426E;ENSP00000441462:G1425E;ENSP00000446243:G1425E;ENSP00000441675:G1425E	ENSP00000320445:G1288E	G	-	2	0	CSMD1	3075040	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	7.634000	0.83273	2.937000	0.99478	0.650000	0.86243	GGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		3087633	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3087633	C	T	3087633	3	4	196	1	0	0	0	0	1	0	0	0	3946	855	30	2	6596	2	CSMD1	8	3087633	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	111576	3087633	143276389	1074	14346											
CSMD1	64478	genome.wustl.edu	37	chr8	3216839	3216839	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaggcagggactccaggatCatcacatggctccaggtcat	12	11	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:3216839C>T	ENST00000520002.1	-	22	3697	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D1048N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1048N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1048N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1047N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1048	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		ACTCCAGGATCATCACATGGC	0.438																																																	0								ENSG00000183117						50	54	53					8																	3216839		2178	4297	6475	CSMD1	SO:0001583	missense	0			-	HGNC			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.3142G>A	8.37:g.3216839C>T	ENSP00000430733:p.Asp1048Asn	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	65	22.62	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D1048N	ENST00000520002.1	37	c.3142		8	.	.	.	.	.	.	.	.	.	.	c	28.8	4.949258	0.92660	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.24	5.24	0.73138	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.41906	1.305	0.80722	D	1	D;P;P	0.89917	1.0;0.742;0.697	D;P;B	0.87578	0.998;0.597;0.365	T	0.71094	-0.4692	10	0.36615	T	0.2	.	18.8469	0.92210	0.0:1.0:0.0:0.0	.	1048;1048;1048	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	N	1048;1048;910;1047;1047;1047	ENSP00000383047:D1048N;ENSP00000430733:D1048N;ENSP00000441462:D1047N;ENSP00000446243:D1047N;ENSP00000441675:D1047N	ENSP00000320445:D910N	D	-	1	0	CSMD1	3204246	1.000000	0.71417	0.621000	0.29145	0.877000	0.50540	7.612000	0.82975	2.432000	0.82394	0.550000	0.68814	GAT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		3216839	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3216839	C	T	3216839	3	4	196	1	0	0	0	0	1	0	0	0	3946	826	29	2	7755	2	CSMD1	8	3216839	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	129206	3216839	143147183	1075	14347											
CSMD1	64478	genome.wustl.edu	37	chr8	3226824	3226824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgcagtttagagagtttgGataaaaatctggaaacccag	11	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:3226824G>A	ENST00000520002.1	-	20	3409	c.2854C>T	c.(2854-2856)Cca>Tca	p.P952S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P952S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P952S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P952S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P951S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P951S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P951S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	952	CUB 6. {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)		AGAGAGTTTGGATAAAAATCT	0.393																																																	0								ENSG00000183117						70	67	68					8																	3226824		1836	4080	5916	CSMD1	SO:0001583	missense	0			-	HGNC			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.2854C>T	8.37:g.3226824G>A	ENSP00000430733:p.Pro952Ser	Somatic	0	122	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	67	24.72	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P952S	ENST00000520002.1	37	c.2854		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.386214|4.386214	0.82902|0.82902	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.33438|.	1.41;1.41;1.41;1.41;1.41|.	5.2|5.2	5.2|5.2	0.72013|0.72013	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72211|0.72211	0.3432|0.3432	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.995;0.707|.	D;D;B|.	0.87578|.	0.998;0.951;0.396|.	T|T	0.70124|0.70124	-0.4958|-0.4958	10|5	0.45353|.	T|.	0.12|.	.|.	18.7526|18.7526	0.91821|0.91821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	952;952;952|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|F	952;952;814;951;951;951|431	ENSP00000383047:P952S;ENSP00000430733:P952S;ENSP00000441462:P951S;ENSP00000446243:P951S;ENSP00000441675:P951S|.	ENSP00000320445:P814S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	3214231|3214231	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.726000|0.726000	0.41606|0.41606	9.565000|9.565000	0.98154|0.98154	2.405000|2.405000	0.81733|0.81733	0.557000|0.557000	0.71058|0.71058	CCA|TCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.393	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225	-		3226824	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3226824	G	A	3226824	3	1	196	1	0	0	0	0	1	0	0	0	3946	1174	41	2	8051	2	CSMD1	8	3226824	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9985	3226824	143137198	1076	14348											
XKR5	389610	genome.wustl.edu	37	chr8	6669733	6669733	+	RNA	SNP	C	C	T													ttcccagctagatctgtggcCcggggagaatctcttctctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:6669733C>T	ENST00000518724.1	-	0	1198							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GATCTGTGGCCCGGGGAGAAT	0.547																																																	0								ENSG00000186530						35	34	34					8																	6669733		1790	3898	5688	XKR5			0			-	HGNC	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669733C>T		Somatic	0	79	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.00	Q5GH74	RNA	SNP							-	NULL	ENST00000518724.1	37	NULL		8																																																																																			-	-		0.547	XKR5-001	KNOWN	basic	processed_transcript	XKR5	processed_transcript	OTTHUMT00000331969.2	C	NM_207411	-		6669733	-1	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	SNP	0.000	T	T	6669733	C	T	6669733	1	4	196	0	1	0	0	0	0	0	0	0	17441	610	22	2		2	XKR5	8	6669733	RNA	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3442909	6669733	139694289	1077	14349	289	2									
XKR5	389610	genome.wustl.edu	37	chr8	6669734	6669734	+	RNA	SNP	C	C	T													tcccagctagatctgtggccCggggagaatctcttctctct					rs377530749		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:6669734C>T	ENST00000518724.1	-	0	1197							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATCTGTGGCCCGGGGAGAATC	0.542																																																	0								ENSG00000186530	C	GLN/ARG	2,3578		0,2,1788	34	34	34		1047	-6.9	0	8		34	0,7806		0,0,3903	no	missense	XKR5	NM_207411.4	43	0,2,5691	TT,TC,CC		0.0,0.0559,0.0176		349/687	6669734	2,11384	1790	3903	5693	XKR5			0			-	HGNC	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669734C>T		Somatic	0	82	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40	Q5GH74	RNA	SNP							-	NULL	ENST00000518724.1	37	NULL		8																																																																																			-	-		0.542	XKR5-001	KNOWN	basic	processed_transcript	XKR5	processed_transcript	OTTHUMT00000331969.2	C	NM_207411	-		6669734	-1	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	SNP	0.000	T	T	6669734	C	T	6669734	1	4	196	0	1	0	0	0	0	0	0	0	17441	652	23	1		1	XKR5	8	6669734	RNA	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	6669734	139694288	1078	14350	289	2									
SPAG11B	10407	genome.wustl.edu	37	chr8	7308314	7308314	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgcaacacctattccagGgatcagagcaaatgtcacgc	8	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:7308314G>A	ENST00000297498.2	-	0	565				SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000398462.2_Missense_Mutation_p.P108L|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000458665.1_Missense_Mutation_p.P55L	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTATTCCAGGGATCAGAGCA	0.443																																																	0								ENSG00000164871						131	137	135					8																	7308314		2203	4300	6503	SPAG11B	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.*87C>T	8.37:g.7308314G>A		Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	86	14.00	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP							pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.P108L	ENST00000297498.2	37	c.323	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137473	0.56936	.	.	ENSG00000164871	ENST00000458665;ENST00000398462	T;T	0.26223	1.75;1.75	3.44	3.44	0.39384	.	.	.	.	.	T	0.35248	0.0925	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.04946	-1.0916	9	0.46703	T	0.11	-18.1555	10.7413	0.46156	0.0:0.0:1.0:0.0	.	108;55	A8MZA0;E9PFH0	.;.	L	55;108	ENSP00000398550:P55L;ENSP00000381480:P108L	ENSP00000381480:P108L	P	-	2	0	SPAG11B	7295724	0.987000	0.35691	0.994000	0.49952	0.708000	0.40852	1.962000	0.40442	2.235000	0.73313	0.454000	0.30748	CCC	-	pfam_Defensin_beta-typ		0.443	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	protein_coding	OTTHUMT00000251390.2	G	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207	-		7308314	-1	no_errors	ENST00000398462	ensembl	human	known	74_37	missense	SNP	0.995	A	A	7308314	G	A	7308314	1	1	196	0	1	0	0	0	0	0	0	0	14985	1232	43	2		2	SPAG11B	8	7308314	3'UTR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	638580	7308314	139055708	1079	14351											
RP1L1	94137	genome.wustl.edu	37	chr8	10465862	10465862	+	Nonsense_Mutation	SNP	G	G	A													tacactttctgtctctggctGggcctccttttctgcctccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10465862G>A	ENST00000382483.3	-	4	5969	c.5746C>T	c.(5746-5748)Cag>Tag	p.Q1916*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1996	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)				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)		GTCTCTGGCTGGGCCTCCTTT	0.612																																																	0								ENSG00000183638						128	144	139					8																	10465862		2018	4168	6186	RP1L1	SO:0001587	stop_gained	0			-	HGNC	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.5746C>T	8.37:g.10465862G>A	ENSP00000371923:p.Gln1916*	Somatic	0	47	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	40	28.57	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1916*	ENST00000382483.3	37	c.5746	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.234838	0.99110	.	.	ENSG00000183638	ENST00000382483	.	.	.	0.718	-0.558	0.11796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	2.353	0.04288	0.2104:0.0:0.2897:0.4999	.	.	.	.	X	1916	.	ENSP00000371923:Q1916X	Q	-	1	0	RP1L1	10503272	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.177000	0.16801	-0.232000	0.09811	-0.516000	0.04426	CAG	-	NULL		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G		-		10465862	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	10465862	G	A	10465862	4	1	196	1	0	0	0	0	0	1	0	0	13541	1357	47	2	1460	2	RP1L1	8	10465862	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3157548	10465862	135898160	1080	14352	290	2									
RP1L1	94137	genome.wustl.edu	37	chr8	10465863	10465863	+	Silent	SNP	G	G	A													acactttctgtctctggctgGgcctccttttctgcctccgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10465863G>A	ENST00000382483.3	-	4	5968	c.5745C>T	c.(5743-5745)gcC>gcT	p.A1915A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1995					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)				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)		TCTCTGGCTGGGCCTCCTTTT	0.612																																																	0								ENSG00000183638						129	144	139					8																	10465863		2018	4169	6187	RP1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.5745C>T	8.37:g.10465863G>A		Somatic	0	47	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A1915	ENST00000382483.3	37	c.5745	CCDS43708.1	8																																																																																			-	NULL		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G		-		10465863	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	SNP	0.001	A	A	10465863	G	A	10465863	2	1	196	1	0	0	0	0	0	0	0	1	13541	1219	43	2		2	RP1L1	8	10465863	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	10465863	135898159	1081	14353	290	2									
RP1L1	94137	genome.wustl.edu	37	chr8	10468038	10468038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgggcgtgaagttctcCgtcatggcatgggacccaag	15	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10468038C>T	ENST00000382483.3	-	4	3793	c.3570G>A	c.(3568-3570)acG>acA	p.T1190T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1190					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)				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)		TGAAGTTCTCCGTCATGGCAT	0.627																																																	0								ENSG00000183638						47	52	50					8																	10468038		2130	4236	6366	RP1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.3570G>A	8.37:g.10468038C>T		Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	26	46.94	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.T1190	ENST00000382483.3	37	c.3570	CCDS43708.1	8																																																																																			-	NULL		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	C		-		10468038	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	SNP	0.000	T	T	10468038	C	T	10468038	2	4	196	1	0	0	0	0	0	0	0	1	13541	639	23	1		1	RP1L1	8	10468038	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2175	10468038	135895984	1082	14354											
RP1L1	94137	genome.wustl.edu	37	chr8	10480423	10480423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtagcagcctccatcttCcagctgctccagggcgctga	12	14	1	1	rs142083988	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10480423C>T	ENST00000382483.3	-	2	512	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	97	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)				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)		CCTCCATCTTCCAGCTGCTCC	0.647																																																	0								ENSG00000183638						20	23	22					8																	10480423		1994	4168	6162	RP1L1	SO:0001583	missense	0			-	HGNC	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.289G>A	8.37:g.10480423C>T	ENSP00000371923:p.Glu97Lys	Somatic	0	106	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	83	13.54	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E97K	ENST00000382483.3	37	c.289	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	c	19.91	3.913912	0.72983	.	.	ENSG00000183638	ENST00000382483	D	0.93133	-3.17	4.74	2.93	0.34026	.	.	.	.	.	D	0.94729	0.8299	L	0.51853	1.615	0.32785	N	0.501891	D	0.64830	0.994	D	0.65010	0.931	D	0.95015	0.8155	9	0.72032	D	0.01	-9.6764	13.5498	0.61726	0.0:0.5617:0.4383:0.0	.	97	A6NKC6	.	K	97	ENSP00000371923:E97K	ENSP00000371923:E97K	E	-	1	0	RP1L1	10517833	1.000000	0.71417	0.763000	0.31416	0.837000	0.47467	3.834000	0.55798	0.609000	0.30018	0.550000	0.68814	GAA	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	C		-		10480423	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10480423	C	T	10480423	3	4	196	1	0	0	0	0	1	0	0	0	13541	864	30	2	6925	2	RP1L1	8	10480423	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	12385	10480423	135883599	1083	14355											
MTMR7	9108	genome.wustl.edu	37	chr8	17206510	17206510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggaaatcgccgtctactCcggaatttggaactccccac	8	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:17206510C>T	ENST00000180173.5	-	5	583	c.549G>A	c.(547-549)cgG>cgA	p.R183R	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Silent_p.R183R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	183	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|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)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GCCGTCTACTCCGGAATTTGG	0.418																																																	0								ENSG00000003987						136	130	132					8																	17206510		2203	4300	6503	MTMR7	SO:0001819	synonymous_variant	0			-	HGNC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.549G>A	8.37:g.17206510C>T		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33	A1L4K9|B4DG87|Q68DX4	Silent	SNP							pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R183	ENST00000180173.5	37	c.549	CCDS34851.1	8																																																																																			-	pfam_Myotubularin-like_Pase_dom		0.418	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	protein_coding	OTTHUMT00000375311.1	C	NM_004686	-		17206510	-1	no_errors	ENST00000180173	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17206510	C	T	17206510	2	4	196	1	0	0	0	0	0	0	0	1	9950	842	30	2		2	MTMR7	8	17206510	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6726087	17206510	129157512	1084	14356											
SLC7A2	6542	genome.wustl.edu	37	chr8	17406327	17406327	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaagattagtgaagagtttCtcaaaaatatatcagcaagt	9	4	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:17406327C>T	ENST00000494857.1	+	5	891	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	SLC7A2_ENST00000522656.1_Missense_Mutation_p.L225F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L265F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L265F|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L265F	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	225					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAAGAGTTTCTCAAAAATAT	0.328																																																	0								ENSG00000003989						144	153	150					8																	17406327		2203	4300	6503	SLC7A2	SO:0001583	missense	0			-	HGNC	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.673C>T	8.37:g.17406327C>T	ENSP00000419140:p.Leu225Phe	Somatic	0	173	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	95	29.10	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.L265F	ENST00000494857.1	37	c.793	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575448	0.45902	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89123	-2.32;-2.32;-2.47;-2.34;-2.47	4.68	4.68	0.58851	Amino acid permease domain (1);	0.107759	0.64402	D	0.000004	D	0.82444	0.5038	N	0.16233	0.39	0.80722	D	1	B;B;B	0.12630	0.001;0.0;0.006	B;B;B	0.22880	0.008;0.012;0.042	T	0.76974	-0.2760	10	0.35671	T	0.21	.	18.542	0.91031	0.0:1.0:0.0:0.0	.	265;265;225	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	F	225;225;265;265;265	ENSP00000419140:L225F;ENSP00000430464:L225F;ENSP00000419873:L265F;ENSP00000004531:L265F;ENSP00000381164:L265F	ENSP00000004531:L265F	L	+	1	0	SLC7A2	17450706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.624000	0.61254	2.538000	0.85594	0.650000	0.86243	CTC	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.328	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	C	NM_003046	-		17406327	1	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17406327	C	T	17406327	3	4	196	1	0	0	0	0	1	0	0	0	14705	913	32	2	807	2	SLC7A2	8	17406327	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	199817	17406327	128957695	1085	14357											
FGL1	2267	genome.wustl.edu	37	chr8	17731905	17731905	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgccatcagatcgtctctGaattacagtccatcctcctc	5	15	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:17731905G>A	ENST00000398056.2	-	6	1185	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	FGL1_ENST00000381840.2_Nonsense_Mutation_p.Q124*|FGL1_ENST00000427924.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000381841.2_Nonsense_Mutation_p.Q124*|FGL1_ENST00000518650.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000522444.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000398054.1_Nonsense_Mutation_p.Q124*			Q08830	FGL1_HUMAN	fibrinogen-like 1	124	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GATCGTCTCTGAATTACAGTC	0.368																																																	0								ENSG00000104760						141	132	135					8																	17731905		2203	4300	6503	FGL1	SO:0001587	stop_gained	0			-	HGNC	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"Fibrinogen C domain containing"	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.370C>T	8.37:g.17731905G>A	ENSP00000381133:p.Gln124*	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Nonsense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q124*	ENST00000398056.2	37	c.370	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.958779	0.97964	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9682	0.92704	0.0:0.0:1.0:0.0	.	.	.	.	X	124;124;94;124;124;124;124;124;124	.	ENSP00000221204:Q124X	Q	-	1	0	FGL1	17776185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.021000	0.93673	2.562000	0.86427	0.555000	0.69702	CAG	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.368	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	protein_coding	OTTHUMT00000375254.1	G	NM_004467	-		17731905	-1	no_errors	ENST00000381840	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	17731905	G	A	17731905	4	1	196	1	0	0	0	0	0	1	0	0	5874	1299	45	2	588	2	FGL1	8	17731905	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	325578	17731905	128632117	1086	14358											
LGI3	203190	genome.wustl.edu	37	chr8	22006032	22006032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagctgtcgcggccggcacGaaagtgtttcacagcttggg	15	10	1	0	rs531970563		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:22006032G>A	ENST00000306317.2	-	8	1577	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	LGI3_ENST00000424267.2_Missense_Mutation_p.R406C	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	430					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.R430G(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		16584	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						ENSG00000168481						64	53	57					8																	22006032		2203	4300	6503	LGI3	SO:0001583	missense	0			-	HGNC	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1288C>T	8.37:g.22006032G>A	ENSP00000302297:p.Arg430Cys	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP							pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R430C	ENST00000306317.2	37	c.1288	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315565	0.60524	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80824	-1.42;-1.42	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.071557	0.64402	D	0.000009	T	0.81602	0.4857	L	0.29908	0.895	0.45733	D	0.998632	D;D	0.89917	1.0;1.0	D;P	0.63192	0.912;0.848	T	0.83129	-0.0114	10	0.72032	D	0.01	-13.3407	11.3377	0.49513	0.0:0.0:0.8185:0.1815	.	406;430	A5PLP2;Q8N145	.;LGI3_HUMAN	C	430;406	ENSP00000302297:R430C;ENSP00000399121:R406C	ENSP00000302297:R430C	R	-	1	0	LGI3	22061977	1.000000	0.71417	0.983000	0.44433	0.913000	0.54294	3.333000	0.52090	2.396000	0.81511	0.561000	0.74099	CGT	-	pfam_EPTP,pfscan_EAR		0.632	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	protein_coding	OTTHUMT00000254482.1	G		-		22006032	-1	no_errors	ENST00000306317	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22006032	G	A	22006032	3	1	196	1	0	0	0	0	1	0	0	0	8755	1058	37	1	362	1	LGI3	8	22006032	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4274127	22006032	124357990	1087	14359											
BIN3	55909	genome.wustl.edu	37	chr8	22481521	22481521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagctgcctgttcttGgcttcaaagtcctcccgcac	8	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:22481521G>A	ENST00000276416.6	-	8	590	c.522C>T	c.(520-522)gcC>gcT	p.A174A	BIN3_ENST00000519513.1_Silent_p.A120A|BIN3_ENST00000399977.4_Silent_p.A126A|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	174	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCCTGTTCTTGGCTTCAAAGT	0.612																																																	0								ENSG00000147439						30	36	34					8																	22481521		2009	4158	6167	BIN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.522C>T	8.37:g.22481521G>A		Somatic	0	28	0		0.52429534266604	103	34.59	55	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	Q9BVG2|Q9NVY9	Silent	SNP							pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.A174	ENST00000276416.6	37	c.522	CCDS47825.1	8																																																																																			-	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom		0.612	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	protein_coding	OTTHUMT00000375895.1	G		-		22481521	-1	no_errors	ENST00000276416	ensembl	human	known	74_37	silent	SNP	0.999	A	A	22481521	G	A	22481521	2	1	196	1	0	0	0	0	0	0	0	1	1434	1335	47	2		2	BIN3	8	22481521	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	475489	22481521	123882501	1088	14360											
TNFRSF10D	8793	genome.wustl.edu	37	chr8	23003268	23003268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgatgactaaaaccaCtatgatgataaggtagtgat	8	4	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:23003268C>T	ENST00000312584.3	-	5	743	c.649G>A	c.(649-651)Gtg>Atg	p.V217M		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	217					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ACTAAAACCACTATGATGATA	0.488																																																	0								ENSG00000173530						140	125	130					8																	23003268		2203	4300	6503	TNFRSF10D	SO:0001583	missense	0			-	HGNC	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.649G>A	8.37:g.23003268C>T	ENSP00000310263:p.Val217Met	Somatic	0	69	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	40	43.66	B2R8W0|Q9Y6Q4	Missense_Mutation	SNP							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.V217M	ENST00000312584.3	37	c.649	CCDS6038.1	8	.	.	.	.	.	.	.	.	.	.	c	7.666	0.685995	0.14973	.	.	ENSG00000173530	ENST00000312584	D	0.84070	-1.8	1.62	-3.23	0.05109	.	.	.	.	.	T	0.64983	0.2648	N	0.22421	0.69	0.09310	N	1	P	0.37015	0.578	B	0.34385	0.181	T	0.53380	-0.8447	9	0.31617	T	0.26	.	4.6167	0.12430	0.3406:0.219:0.4403:0.0	.	217	Q9UBN6	TR10D_HUMAN	M	217	ENSP00000310263:V217M	ENSP00000310263:V217M	V	-	1	0	TNFRSF10D	23059213	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.973000	0.01500	-1.636000	0.01533	0.449000	0.29647	GTG	-	NULL		0.488	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	protein_coding	OTTHUMT00000215135.1	C		-		23003268	-1	no_errors	ENST00000312584	ensembl	human	known	74_37	missense	SNP	0.000	T	T	23003268	C	T	23003268	3	4	196	1	0	0	0	0	1	0	0	0	16290	565	20	2	531	2	TNFRSF10D	8	23003268	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	521747	23003268	123360754	1089	14361											
LOXL2	4017	genome.wustl.edu	37	chr8	23155618	23155618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaactttttttccgtctCttcgctgaaggaaccacctg	6	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:23155618C>T	ENST00000389131.3	-	14	2632	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	755					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTTTCCGTCTCTTCGCTGAAG	0.557																																																	0								ENSG00000134013						68	65	66					8																	23155618		2203	4300	6503	LOXL2	SO:0001583	missense	0			-	HGNC	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2263G>A	8.37:g.23155618C>T	ENSP00000373783:p.Glu755Lys	Somatic	0	36	0		0.52429534266604	415	48.78	399	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP							pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.E755K	ENST00000389131.3	37	c.2263	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440389	0.63067	.	.	ENSG00000134013	ENST00000389131	T	0.01406	4.93	5.3	5.3	0.74995	.	0.142143	0.64402	D	0.000008	T	0.04634	0.0126	M	0.73962	2.25	0.58432	D	0.999999	P	0.45672	0.864	P	0.46543	0.52	T	0.19289	-1.0310	10	0.66056	D	0.02	.	16.4482	0.83959	0.0:1.0:0.0:0.0	.	755	Q9Y4K0	LOXL2_HUMAN	K	755	ENSP00000373783:E755K	ENSP00000373783:E755K	E	-	1	0	LOXL2	23211563	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.312000	0.78968	2.494000	0.84150	0.448000	0.29417	GAG	-	NULL		0.557	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	protein_coding	OTTHUMT00000375603.1	C		-		23155618	-1	no_errors	ENST00000389131	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23155618	C	T	23155618	3	4	196	1	0	0	0	0	1	0	0	0	8902	922	32	2	65	2	LOXL2	8	23155618	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	152350	23155618	123208404	1090	14362											
ESCO2	157570	genome.wustl.edu	37	chr8	27634301	27634301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagacacatcaagcctgtatCaaggaattctagaaattcca	6	9	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:27634301C>T	ENST00000305188.8	+	3	714	c.476C>T	c.(475-477)tCa>tTa	p.S159L	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	159					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)		AAGCCTGTATCAAGGAATTCT	0.363									SC Phocomelia syndrome																																								0								ENSG00000171320						50	49	50					8																	27634301		2203	4300	6503	ESCO2	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	-	HGNC	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.476C>T	8.37:g.27634301C>T	ENSP00000306999:p.Ser159Leu	Somatic	0	48	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	34	45.16	B3KW59|Q49AP4	Missense_Mutation	SNP							NULL	p.S159L	ENST00000305188.8	37	c.476	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	C	4.998	0.185264	0.09495	.	.	ENSG00000171320	ENST00000523566;ENST00000305188	T;T	0.64438	0.82;-0.1	5.93	4.14	0.48551	.	0.466924	0.22942	N	0.053771	T	0.58250	0.2109	M	0.67953	2.075	0.21499	N	0.999667	B;B	0.21606	0.058;0.012	B;B	0.23419	0.046;0.006	T	0.52815	-0.8525	10	0.44086	T	0.13	-5.3226	8.8051	0.34932	0.0:0.829:0.0:0.171	.	159;159	E5RFE4;Q56NI9	.;ESCO2_HUMAN	L	159	ENSP00000428435:S159L;ENSP00000306999:S159L	ENSP00000306999:S159L	S	+	2	0	ESCO2	27690220	0.641000	0.27251	0.013000	0.15412	0.083000	0.17756	1.109000	0.31135	0.850000	0.35239	0.591000	0.81541	TCA	-	NULL		0.363	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	protein_coding	OTTHUMT00000376276.1	C	NM_001017420	-		27634301	1	no_errors	ENST00000305188	ensembl	human	known	74_37	missense	SNP	0.019	T	T	27634301	C	T	27634301	3	4	196	1	0	0	0	0	1	0	0	0	5251	838	29	2	482	2	ESCO2	8	27634301	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4478683	27634301	118729721	1091	14363											
MAK16	84549	genome.wustl.edu	37	chr8	33355983	33355983	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggatgccagcagtgatgaaGatcaggatggtaaatcctcc	12	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:33355983G>A	ENST00000360128.6	+	10	1196	c.739G>A	c.(739-741)Gat>Aat	p.D247N	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	247	Asp-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CAGTGATGAAGATCAGGATGG	0.458																																																	0								ENSG00000198042						73	69	70					8																	33355983		2203	4300	6503	MAK16	SO:0001583	missense	0			-	HGNC	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.739G>A	8.37:g.33355983G>A	ENSP00000353246:p.Asp247Asn	Somatic	0	68	0		0.52429534266604	12	53.85	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	50	33.33	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP							pfam_Mak16,pirsf_Mak16	p.D247N	ENST00000360128.6	37	c.739	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681718	0.68042	.	.	ENSG00000198042	ENST00000360128	T	0.51817	0.69	5.17	5.17	0.71159	.	0.454767	0.25321	N	0.031511	T	0.46073	0.1374	M	0.61703	1.905	0.51233	D	0.999914	P	0.35433	0.501	B	0.28139	0.086	T	0.48768	-0.9006	10	0.41790	T	0.15	-2.5555	18.2666	0.90054	0.0:0.0:1.0:0.0	.	247	Q9BXY0	MAK16_HUMAN	N	247	ENSP00000353246:D247N	ENSP00000353246:D247N	D	+	1	0	MAK16	33475525	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.020000	0.93667	2.412000	0.81896	0.467000	0.42956	GAT	-	pirsf_Mak16		0.458	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	protein_coding	OTTHUMT00000376559.3	G	NM_032509	-		33355983	1	no_errors	ENST00000360128	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33355983	G	A	33355983	3	1	196	1	0	0	0	0	1	0	0	0	9200	942	33	2	777	2	MAK16	8	33355983	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5721682	33355983	113008039	1092	14364											
GPR124	25960	genome.wustl.edu	37	chr8	37687454	37687454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgctccctgcagctgtcgGaacacacgctctgtgcttac	9	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:37687454G>A	ENST00000412232.2	+	6	653	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	GPR124_ENST00000315215.7_Missense_Mutation_p.E214K	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	214	LRRCT.				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)			GCAGCTGTCGGAACACACGCT	0.672																																																	0								ENSG00000020181						43	39	40					8																	37687454		2203	4300	6503	GPR124	SO:0001583	missense	0			-	HGNC	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.640G>A	8.37:g.37687454G>A	ENSP00000406367:p.Glu214Lys	Somatic	0	18	0		0.52429534266604	7	61.11	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.E214K	ENST00000412232.2	37	c.640	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040612	0.75732	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	D;D;D	0.90004	-2.6;-2.6;-2.6	5.21	5.21	0.72293	Cysteine-rich flanking region, C-terminal (1);	0.367657	0.28109	N	0.016576	D	0.92404	0.7589	M	0.69358	2.11	0.52099	D	0.999944	D;P	0.60575	0.988;0.919	P;B	0.58210	0.835;0.395	D	0.90812	0.4702	10	0.29301	T	0.29	-19.7982	18.7518	0.91819	0.0:0.0:1.0:0.0	.	214;214	Q96PE1-2;Q96PE1	.;GP124_HUMAN	K	172;207;214;214	ENSP00000400860:E172K;ENSP00000323508:E214K;ENSP00000406367:E214K	ENSP00000323508:E214K	E	+	1	0	GPR124	37806612	1.000000	0.71417	0.882000	0.34594	0.532000	0.34746	7.746000	0.85057	2.434000	0.82447	0.462000	0.41574	GAA	-	smart_Cys-rich_flank_reg_C		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	protein_coding	OTTHUMT00000343331.2	G		-		37687454	1	no_errors	ENST00000412232	ensembl	human	known	74_37	missense	SNP	0.994	A	A	37687454	G	A	37687454	3	1	196	1	0	0	0	0	1	0	0	0	6640	1175	41	2	641	2	GPR124	8	37687454	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4331471	37687454	108676568	1093	14365											
BRF2	25960	genome.wustl.edu	37	chr8	37702291	37702291	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgtccccaccccggtGgctccttctctcgggtctcc	9	21	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:37702291G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Missense_Mutation_p.P326L|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						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)			CCACCCCGGTGGCTCCTTCTC	0.617																																																	0								ENSG00000104221						44	44	44					8																	37702291		2203	4300	6503	BRF2	SO:0001628	intergenic_variant	0			-	HGNC	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		8.37:g.37702291G>A		Somatic	0	35	0		0.52429534266604	8	33.33	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP							pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB	p.P326L	ENST00000412232.2	37	c.977	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	2.552	-0.303832	0.05495	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	3.85	-7.71	0.01254	.	3.324610	0.00575	N	0.000309	T	0.11665	0.0284	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	9	0.24483	T	0.36	.	3.0122	0.06048	0.0996:0.1953:0.3606:0.3445	.	326	Q9HAW0	BRF2_HUMAN	L	326;303	.	ENSP00000220659:P326L	P	-	2	0	BRF2	37821449	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-5.057000	0.00155	-2.602000	0.00450	-0.471000	0.05019	CCA	-	NULL		0.617	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF2	protein_coding	OTTHUMT00000343331.2	G		-		37702291	-1	no_errors	ENST00000220659	ensembl	human	known	74_37	missense	SNP	0.000	A	A	37702291	G	A	37702291	1	1	196	0	1	0	0	0	0	0	0	0	1513	1348	47	2		2	BRF2	8	37702291	IGR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	14837	37702291	108661731	1094	14366											
FGFR1	2260	genome.wustl.edu	37	chr8	38271205	38271205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtcggggcaggcagggctCctcgggcagcggctcatgag	19	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:38271205C>T	ENST00000447712.2	-	18	3351	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	FGFR1_ENST00000397091.5_Missense_Mutation_p.E802K|FGFR1_ENST00000356207.5_Missense_Mutation_p.E715K|FGFR1_ENST00000341462.5_Missense_Mutation_p.E804K|FGFR1_ENST00000532791.1_Missense_Mutation_p.E802K|FGFR1_ENST00000397113.2_Missense_Mutation_p.E802K|FGFR1_ENST00000397103.1_Missense_Mutation_p.E715K|FGFR1_ENST00000397108.4_Missense_Mutation_p.E802K|FGFR1_ENST00000425967.3_Missense_Mutation_p.E835K|FGFR1_ENST00000326324.6_Missense_Mutation_p.E713K|FGFR1_ENST00000335922.5_Missense_Mutation_p.E794K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	804					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGCAGGGCTCCTCGGGCAGC	0.662		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0								ENSG00000077782						17	24	22					8																	38271205		2070	4188	6258	FGFR1	SO:0001583	missense	0			-	HGNC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2410G>A	8.37:g.38271205C>T	ENSP00000400162:p.Glu804Lys	Somatic	0	30	0		0.52429534266604	481	55.62	604	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	24	51.02	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E835K	ENST00000447712.2	37	c.2503	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	C	35	5.459161	0.96240	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.65	5.65	0.86999	.	0.091183	0.85682	D	0.000000	D	0.85513	0.5714	M	0.77820	2.39	0.80722	D	1	P;P;D;P;D	0.56968	0.94;0.94;0.963;0.94;0.978	P;P;P;P;P	0.52823	0.641;0.641;0.516;0.71;0.71	D	0.87040	0.2140	10	0.72032	D	0.01	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	713;713;804;794;802	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	802;835;804;804;802;802;715;794;713;715;802	ENSP00000380280:E802K;ENSP00000393312:E835K;ENSP00000400162:E804K;ENSP00000340636:E804K;ENSP00000432972:E802K;ENSP00000380302:E802K;ENSP00000348537:E715K;ENSP00000337247:E794K;ENSP00000327229:E713K;ENSP00000380292:E715K;ENSP00000380297:E802K	ENSP00000327229:E713K	E	-	1	0	FGFR1	38390362	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.721000	0.84768	2.661000	0.90470	0.655000	0.94253	GAG	-	pirsf_FGF_rcpt_fam		0.662	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	protein_coding		C		-		38271205	-1	no_errors	ENST00000425967	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38271205	C	T	38271205	3	4	196	1	0	0	0	0	1	0	0	0	5865	864	30	2	62	2	FGFR1	8	38271205	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	568914	38271205	108092817	1095	14367											
FGFR1	2260	genome.wustl.edu	37	chr8	38314944	38314944	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagcacagcccagaagagGaggcacttccagctccacat	9	15	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:38314944G>A	ENST00000447712.2	-	2	962	c.21C>T	c.(19-21)ctC>ctT	p.L7L	FGFR1_ENST00000397091.5_Silent_p.L7L|FGFR1_ENST00000326324.6_Silent_p.L7L|FGFR1_ENST00000532791.1_Silent_p.L7L|FGFR1_ENST00000356207.5_Silent_p.L7L|FGFR1_ENST00000341462.5_Silent_p.L7L|FGFR1_ENST00000397113.2_Silent_p.L7L|FGFR1_ENST00000397103.1_Silent_p.L7L|FGFR1_ENST00000397108.4_Silent_p.L7L|FGFR1_ENST00000425967.3_Silent_p.L40L|FGFR1_ENST00000335922.5_5'UTR	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	7					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCAGAAGAGGAGGCACTTCC	0.582		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0								ENSG00000077782						72	63	66					8																	38314944		2203	4300	6503	FGFR1	SO:0001819	synonymous_variant	0			-	HGNC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.21C>T	8.37:g.38314944G>A		Somatic	0	50	0		0.52429534266604	69	36.11	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.67	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L40	ENST00000447712.2	37	c.120	CCDS6107.2	8																																																																																			-	pirsf_FGF_rcpt_fam		0.582	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	protein_coding		G		-		38314944	-1	no_errors	ENST00000425967	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38314944	G	A	38314944	2	1	196	1	0	0	0	0	0	0	0	1	5865	1161	41	2		2	FGFR1	8	38314944	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	43739	38314944	108049078	1096	14368											
ADAM9	8754	genome.wustl.edu	37	chr8	38940563	38940563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagactaaaggatacggagGaagtgtggacagtggaccta	15	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:38940563G>A	ENST00000487273.2	+	18	2117	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	680	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GGATACGGAGGAAGTGTGGAC	0.418																																																	0								ENSG00000168615						96	85	89					8																	38940563		2203	4300	6503	ADAM9	SO:0001583	missense	0			-	HGNC	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2039G>A	8.37:g.38940563G>A	ENSP00000419446:p.Gly680Glu	Somatic	0	60	0		0.52429534266604	17	26.09	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	62	19.48	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G680E	ENST00000487273.2	37	c.2039	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.224823	0.95173	.	.	ENSG00000168615	ENST00000487273	D	0.99051	-5.37	5.91	5.91	0.95273	.	0.048078	0.85682	D	0.000000	D	0.99435	0.9800	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99004	1.0812	10	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	680	Q13443	ADAM9_HUMAN	E	680	ENSP00000419446:G680E	ENSP00000418437:G680E	G	+	2	0	ADAM9	39059720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.291000	0.96070	2.803000	0.96430	0.650000	0.86243	GGA	-	NULL		0.418	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	protein_coding	OTTHUMT00000357291.2	G		-		38940563	1	no_errors	ENST00000487273	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38940563	G	A	38940563	3	1	196	1	0	0	0	0	1	0	0	0	253	1174	41	2	2109	2	ADAM9	8	38940563	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	625619	38940563	107423459	1097	14369											
ADAM2	2515	genome.wustl.edu	37	chr8	39602383	39602383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctctgttgtccagactacCctttaggttcactctcactt	5	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:39602383C>T	ENST00000265708.4	-	20	2307	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E	ADAM2_ENST00000521880.1_Missense_Mutation_p.G672E|ADAM2_ENST00000347580.4_Missense_Mutation_p.G716E|ADAM2_ENST00000379853.2_Missense_Mutation_p.G579E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	735					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCAGACTACCCTTTAGGTTC	0.323																																																	0								ENSG00000104755						83	90	88					8																	39602383		2203	4300	6503	ADAM2	SO:0001583	missense	0			-	HGNC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2204G>A	8.37:g.39602383C>T	ENSP00000265708:p.Gly735Glu	Somatic	0	22	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	P78326|Q9UQQ8	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G735E	ENST00000265708.4	37	c.2204	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	8.544	0.873893	0.17395	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02258	5.02;4.37;5.26;5.18	3.28	2.13	0.27403	.	.	.	.	.	T	0.01489	0.0048	N	0.11106	0.095	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	0.46638	-0.9177	9	0.87932	D	0	.	4.8061	0.13321	0.0:0.1511:0.0:0.8489	.	672;579;716;735	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	E	716;579;735;672	ENSP00000343854:G716E;ENSP00000369182:G579E;ENSP00000265708:G735E;ENSP00000429352:G672E	ENSP00000265708:G735E	G	-	2	0	ADAM2	39721540	0.017000	0.18338	0.005000	0.12908	0.002000	0.02628	0.199000	0.17237	0.640000	0.30582	-0.482000	0.04802	GGG	-	NULL		0.323	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	protein_coding	OTTHUMT00000376926.1	C	NM_001464	-		39602383	-1	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	SNP	0.007	T	T	39602383	C	T	39602383	3	4	196	1	0	0	0	0	1	0	0	0	241	623	22	2	7	2	ADAM2	8	39602383	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	661820	39602383	106761639	1098	14370											
AGPAT6	137964	genome.wustl.edu	37	chr8	41467192	41467192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatcattgcaaaggatcCcacttcactagaagaagaga	9	8	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41467192C>T	ENST00000396987.3	+	4	1181	c.254C>T	c.(253-255)cCc>cTc	p.P85L	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	85					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GCAAAGGATCCCACTTCACTA	0.468																																																	0								ENSG00000158669						105	103	104					8																	41467192		2203	4300	6503	AGPAT6	SO:0001583	missense	0			-	HGNC	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.254C>T	8.37:g.41467192C>T	ENSP00000380184:p.Pro85Leu	Somatic	0	41	0		0.52429534266604	27	40	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	42	38.24	Q86V89	Missense_Mutation	SNP							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.P85L	ENST00000396987.3	37	c.254	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298815	0.40694	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.42900	0.96	4.93	4.93	0.64822	.	0.254542	0.45867	D	0.000322	T	0.39358	0.1075	L	0.58101	1.795	0.52099	D	0.999945	B	0.06786	0.001	B	0.06405	0.002	T	0.15093	-1.0449	10	0.30854	T	0.27	.	13.4138	0.60958	0.0:0.8426:0.1574:0.0	.	85	Q86UL3	GPAT4_HUMAN	L	85;39	ENSP00000380184:P85L	ENSP00000380184:P85L	P	+	2	0	AGPAT6	41586349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.315000	0.43752	2.714000	0.92807	0.563000	0.77884	CCC	-	NULL		0.468	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	protein_coding	OTTHUMT00000377158.1	C	NM_178819	-		41467192	1	no_errors	ENST00000396987	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41467192	C	T	41467192	3	4	196	1	0	0	0	0	1	0	0	0	391	623	22	2	264	2	AGPAT6	8	41467192	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1864809	41467192	104896830	1099	14371											
ANK1	286	genome.wustl.edu	37	chr8	41526059	41526059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtatgagacaatcgagCcgtctgcatcccagtcctgc	11	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41526059C>T	ENST00000347528.4	-	39	5203	c.5120G>A	c.(5119-5121)gGc>gAc	p.G1707D	ANK1_ENST00000379758.2_Missense_Mutation_p.G1707D|ANK1_ENST00000265709.8_Missense_Mutation_p.G1748D|ANK1_ENST00000396942.1_Missense_Mutation_p.G1707D|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.G1707D|ANK1_ENST00000352337.4_Missense_Mutation_p.G1707D|ANK1_ENST00000396945.1_Missense_Mutation_p.G1707D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1707	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACAATCGAGCCGTCTGCATC	0.552																																																	0								ENSG00000029534						93	73	80					8																	41526059		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5120G>A	8.37:g.41526059C>T	ENSP00000339620:p.Gly1707Asp	Somatic	0	42	0		0.52429534266604	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G1707D	ENST00000347528.4	37	c.5120	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	3.632	-0.075408	0.07184	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.67523	-0.23;-0.21;-0.2;-0.27;-0.2;-0.22;-0.22	4.22	4.22	0.49857	.	0.301944	0.29668	N	0.011509	T	0.69922	0.3165	L	0.34521	1.04	0.43678	D	0.996116	D;P;P;D;D;P	0.69078	0.997;0.933;0.85;0.996;0.997;0.89	D;P;B;P;D;B	0.64776	0.929;0.483;0.265;0.89;0.929;0.358	T	0.66364	-0.5942	10	0.27785	T	0.31	.	14.2493	0.66009	0.0:1.0:0.0:0.0	.	1748;1545;1707;1707;1707;861	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	D	1707;1707;1707;1707;1707;1707;1748	ENSP00000339620:G1707D;ENSP00000289734:G1707D;ENSP00000369082:G1707D;ENSP00000380149:G1707D;ENSP00000380147:G1707D;ENSP00000309131:G1707D;ENSP00000265709:G1748D	ENSP00000265709:G1748D	G	-	2	0	ANK1	41645216	1.000000	0.71417	0.910000	0.35882	0.128000	0.20619	4.278000	0.58946	2.376000	0.81061	0.462000	0.41574	GGC	-	NULL		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	C	NM_020475	-		41526059	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	0.998	T	T	41526059	C	T	41526059	3	4	196	1	0	0	0	0	1	0	0	0	620	739	26	2	867	2	ANK1	8	41526059	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	58867	41526059	104837963	1100	14372											
ANK1	286	genome.wustl.edu	37	chr8	41529933	41529933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtgattcgggcttgccCcctctgatggcctgaaacaa	11	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41529933C>T	ENST00000347528.4	-	38	5118	c.5035G>A	c.(5035-5037)Ggg>Agg	p.G1679R	ANK1_ENST00000379758.2_Missense_Mutation_p.G1679R|ANK1_ENST00000265709.8_Missense_Mutation_p.G1720R|ANK1_ENST00000396942.1_Missense_Mutation_p.G1679R|ANK1_ENST00000289734.7_Missense_Mutation_p.G1679R|ANK1_ENST00000352337.4_Missense_Mutation_p.G1679R|ANK1_ENST00000396945.1_Missense_Mutation_p.G1679R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1679	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGGCTTGCCCCCTCTGATGG	0.557																																																	0								ENSG00000029534						151	135	140					8																	41529933		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5035G>A	8.37:g.41529933C>T	ENSP00000339620:p.Gly1679Arg	Somatic	0	38	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G1679R	ENST00000347528.4	37	c.5035	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.09|10.09	1.254085|1.254085	0.22965|0.22965	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	.|T;T;T;T;T;T;T	.|0.26810	.|1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.24|5.24	4.35|4.35	0.52113|0.52113	.|.	0.128009|0.128009	0.51477|0.51477	D|D	0.000090|0.000090	T|T	0.13927|0.13927	0.0337|0.0337	N|N	0.08118|0.08118	0|0	0.27660|0.27660	N|N	0.94711|0.94711	.|B;B;B;B;B;B	.|0.11235	.|0.0;0.004;0.0;0.0;0.0;0.002	.|B;B;B;B;B;B	.|0.10450	.|0.0;0.001;0.001;0.005;0.0;0.001	T|T	0.12785|0.12785	-1.0534|-1.0534	6|10	.|0.16896	.|T	.|0.51	.|.	15.2259|15.2259	0.73352|0.73352	0.0:0.8587:0.1413:0.0|0.0:0.8587:0.1413:0.0	.|.	.|1720;1517;1679;1679;1679;833	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	E|R	838|1679;1679;1679;1679;1679;1679;1720	.|ENSP00000339620:G1679R;ENSP00000289734:G1679R;ENSP00000369082:G1679R;ENSP00000380149:G1679R;ENSP00000380147:G1679R;ENSP00000309131:G1679R;ENSP00000265709:G1720R	.|ENSP00000265709:G1720R	G|G	-|-	2|1	0|0	ANK1|ANK1	41649090|41649090	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.739000|0.739000	0.42172|0.42172	4.649000|4.649000	0.61433|0.61433	1.341000|1.341000	0.45600|0.45600	0.552000|0.552000	0.68991|0.68991	GGG|GGG	-	NULL		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	C	NM_020475	-		41529933	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41529933	C	T	41529933	3	4	196	1	0	0	0	0	1	0	0	0	620	623	22	2	956	2	ANK1	8	41529933	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3874	41529933	104834089	1101	14373											
ANK1	286	genome.wustl.edu	37	chr8	41530214	41530214	+	Missense_Mutation	SNP	A	A	T													cctcagccttgctacactccAgagaggagtcctcagcagtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41530214A>T	ENST00000347528.4	-	38	4837	c.4754T>A	c.(4753-4755)cTg>cAg	p.L1585Q	ANK1_ENST00000379758.2_Missense_Mutation_p.L1585Q|ANK1_ENST00000265709.8_Missense_Mutation_p.L1626Q|ANK1_ENST00000396942.1_Missense_Mutation_p.L1585Q|ANK1_ENST00000289734.7_Missense_Mutation_p.L1585Q|ANK1_ENST00000352337.4_Missense_Mutation_p.L1585Q|ANK1_ENST00000396945.1_Missense_Mutation_p.L1585Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1585	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTACACTCCAGAGAGGAGTC	0.617																																																	0								ENSG00000029534						70	70	70					8																	41530214		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4754T>A	8.37:g.41530214A>T	ENSP00000339620:p.Leu1585Gln	Somatic	0	17	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L1585Q	ENST00000347528.4	37	c.4754	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093880	0.76870	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.74632	-0.85;-0.86;-0.81;-0.83;-0.83;-0.76;-0.82	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000009	D	0.82398	0.5028	L	0.59436	1.845	0.58432	D	0.999995	D;D;D;D	0.69078	0.997;0.992;0.996;0.997	D;D;D;D	0.72625	0.973;0.934;0.978;0.973	T	0.81931	-0.0707	10	0.40728	T	0.16	.	13.2508	0.60050	1.0:0.0:0.0:0.0	.	1626;1585;1585;1585	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	Q	1585;1585;1585;1585;1585;1585;1626	ENSP00000339620:L1585Q;ENSP00000289734:L1585Q;ENSP00000369082:L1585Q;ENSP00000380149:L1585Q;ENSP00000380147:L1585Q;ENSP00000309131:L1585Q;ENSP00000265709:L1626Q	ENSP00000265709:L1626Q	L	-	2	0	ANK1	41649371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.888000	0.92464	2.129000	0.65627	0.451000	0.29950	CTG	-	NULL		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	A	NM_020475	-		41530214	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41530214	A	T	41530214	3	4	196	1	0	0	0	0	1	0	0	0	620	188	7	5	1237	5	ANK1	8	41530214	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	281	41530214	104833808	1102	14374	291	2									
ANK1	286	genome.wustl.edu	37	chr8	41530215	41530215	+	Missense_Mutation	SNP	G	G	T													ctcagccttgctacactccaGagaggagtcctcagcagtga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41530215G>T	ENST00000347528.4	-	38	4836	c.4753C>A	c.(4753-4755)Ctg>Atg	p.L1585M	ANK1_ENST00000379758.2_Missense_Mutation_p.L1585M|ANK1_ENST00000265709.8_Missense_Mutation_p.L1626M|ANK1_ENST00000396942.1_Missense_Mutation_p.L1585M|ANK1_ENST00000289734.7_Missense_Mutation_p.L1585M|ANK1_ENST00000352337.4_Missense_Mutation_p.L1585M|ANK1_ENST00000396945.1_Missense_Mutation_p.L1585M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1585	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTACACTCCAGAGAGGAGTCC	0.617																																																	0								ENSG00000029534						69	69	69					8																	41530215		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4753C>A	8.37:g.41530215G>T	ENSP00000339620:p.Leu1585Met	Somatic	0	17	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L1585M	ENST00000347528.4	37	c.4753	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686078	0.68157	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.74209	-0.81;-0.82;-0.78;-0.8;-0.79;-0.73;-0.79	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000009	D	0.83557	0.5280	L	0.59436	1.845	0.49915	D	0.999838	D;D;D;D	0.76494	0.999;0.992;0.996;0.999	D;D;D;D	0.72625	0.975;0.95;0.978;0.975	D	0.84012	0.0349	10	0.54805	T	0.06	.	16.4381	0.83884	0.0:0.0:1.0:0.0	.	1626;1585;1585;1585	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	M	1585;1585;1585;1585;1585;1585;1626	ENSP00000339620:L1585M;ENSP00000289734:L1585M;ENSP00000369082:L1585M;ENSP00000380149:L1585M;ENSP00000380147:L1585M;ENSP00000309131:L1585M;ENSP00000265709:L1626M	ENSP00000265709:L1626M	L	-	1	2	ANK1	41649372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.534000	0.82004	2.635000	0.89317	0.552000	0.68991	CTG	-	NULL		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	G	NM_020475	-		41530215	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41530215	G	T	41530215	3	4	196	1	0	0	0	0	1	0	0	0	620	933	33	3	1238	3	ANK1	8	41530215	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	41530215	104833807	1103	14375	291	2									
ANK1	286	genome.wustl.edu	37	chr8	41552192	41552192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccagcttgctcttcaggGagcccccttcgggaccgatg	12	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41552192G>A	ENST00000347528.4	-	28	3328	c.3245C>T	c.(3244-3246)tCc>tTc	p.S1082F	ANK1_ENST00000379758.2_Missense_Mutation_p.S1082F|ANK1_ENST00000265709.8_Missense_Mutation_p.S1123F|ANK1_ENST00000396942.1_Missense_Mutation_p.S1082F|ANK1_ENST00000289734.7_Missense_Mutation_p.S1082F|ANK1_ENST00000352337.4_Missense_Mutation_p.S1082F|ANK1_ENST00000396945.1_Missense_Mutation_p.S1082F	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1082	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTCTTCAGGGAGCCCCCTTC	0.607																																																	0								ENSG00000029534						105	90	95					8																	41552192		2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3245C>T	8.37:g.41552192G>A	ENSP00000339620:p.Ser1082Phe	Somatic	0	23	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	18	47.06	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S1082F	ENST00000347528.4	37	c.3245	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	2.823	-0.244361	0.05906	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.05	2.19	0.27852	.	0.923674	0.09307	N	0.820056	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.16722	0.003;0.004;0.001;0.002;0.002;0.016	T	0.30995	-0.9959	10	0.46703	T	0.11	.	6.7315	0.23385	0.2365:0.1353:0.6283:0.0	.	1123;1082;1082;1082;1082;398	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	F	1082;1082;1082;1082;1082;1082;1123;1082	ENSP00000339620:S1082F;ENSP00000289734:S1082F;ENSP00000369082:S1082F;ENSP00000380149:S1082F;ENSP00000380147:S1082F;ENSP00000309131:S1082F;ENSP00000265709:S1123F	ENSP00000265709:S1123F	S	-	2	0	ANK1	41671349	0.000000	0.05858	0.001000	0.08648	0.219000	0.24729	0.924000	0.28777	0.214000	0.20742	0.462000	0.41574	TCC	-	NULL		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	G	NM_020475	-		41552192	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	0.000	A	A	41552192	G	A	41552192	3	1	196	1	0	0	0	0	1	0	0	0	620	1174	41	2	2786	2	ANK1	8	41552192	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	21977	41552192	104811830	1104	14376											
MYST3	7994	genome.wustl.edu	37	chr8	41834533	41834533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaactcttacctgtgggCcaatctgaagtgcttgattt	8	9	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41834533C>A	ENST00000396930.3	-	8	1899	c.1356G>T	c.(1354-1356)tgG>tgT	p.W452C	KAT6A_ENST00000406337.1_Missense_Mutation_p.W452C|KAT6A_ENST00000485568.1_Missense_Mutation_p.W452C|KAT6A_ENST00000265713.2_Missense_Mutation_p.W452C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	452	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TACCTGTGGGCCAATCTGAAG	0.408																																																	0								ENSG00000083168						107	105	106					8																	41834533		2203	4300	6503	KAT6A	SO:0001583	missense	0			-	HGNC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1356G>T	8.37:g.41834533C>A	ENSP00000380136:p.Trp452Cys	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	Q76L81	Missense_Mutation	SNP							pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.W452C	ENST00000396930.3	37	c.1356	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130721	0.37630	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.83673	0.29;0.29;0.29;-1.75	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	D	0.85932	0.5812	N	0.22421	0.69	0.80722	D	1	P;D	0.76494	0.875;0.999	B;D	0.80764	0.237;0.994	D	0.86332	0.1699	10	0.44086	T	0.13	-11.2403	19.1629	0.93541	0.0:1.0:0.0:0.0	.	452;452	A5PLL3;Q92794	.;KAT6A_HUMAN	C	452	ENSP00000265713:W452C;ENSP00000385888:W452C;ENSP00000380136:W452C;ENSP00000430606:W452C	ENSP00000265713:W452C	W	-	3	0	KAT6A	41953690	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.490000	0.73645	2.515000	0.84797	0.650000	0.86243	TGG	-	NULL		0.408	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	protein_coding	OTTHUMT00000318163.1	C	NM_006766	-		41834533	-1	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41834533	C	A	41834533	3	1	196	1	0	0	0	0	1	0	0	0	10106	740	26	3	4702	3	MYST3	8	41834533	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	282341	41834533	104529489	1105	14377											
POTEA	340441	genome.wustl.edu	37	chr8	43155758	43155758	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttaaatgcacttgataGgtttggaaggtatagttatt	9	2	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:43155758G>A	ENST00000522175.2	+	0	688				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACTTGATAGGTTTGGAAGG	0.318																																																	0								ENSG00000188877						54	59	57					8																	43155758		2183	4284	6467	POTEA			0			-	HGNC	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43155758G>A		Somatic	1	175	0.56		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	115	34.29	A6ND17|A6ND71|Q6S8J6	RNA	SNP							-	NULL	ENST00000522175.2	37	NULL		8																																																																																			-	-		0.318	POTEA-003	KNOWN	basic	processed_transcript	POTEA	pseudogene	OTTHUMT00000383492.1	G	NM_001002920	-		43155758	1	no_errors	ENST00000522175	ensembl	human	known	74_37	rna	SNP	0.001	A	A	43155758	G	A	43155758	1	1	196	0	1	0	0	0	0	0	0	0	12263	1000	35	2		2	POTEA	8	43155758	RNA	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1321225	43155758	103208264	1106	14378											
EFCAB1	79645	genome.wustl.edu	37	chr8	49642353	49642353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatggctgtttgagaaGgctgttcttcaacatgtgaa	11	7	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:49642353G>A	ENST00000262103.3	-	4	477	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	EFCAB1_ENST00000523092.1_Missense_Mutation_p.L81F|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Missense_Mutation_p.L81F	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	133	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TGTTTGAGAAGGCTGTTCTTC	0.333																																																	0								ENSG00000034239						109	104	106					8																	49642353		2202	4300	6502	EFCAB1	SO:0001583	missense	0			-	HGNC		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.397C>T	8.37:g.49642353G>A	ENSP00000262103:p.Leu133Phe	Somatic	0	98	0		0.52429534266604	16	38.46	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	77	30.00	B4DSB4|E7EVN7	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.L133F	ENST00000262103.3	37	c.397	CCDS6145.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.150109|4.150109	0.78001|0.78001	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000522254	T;T;T|.	0.72942|.	-0.7;-0.7;-0.7|.	5.46|5.46	5.46|5.46	0.80206|0.80206	EF-hand-like domain (1);|.	0.052910|.	0.85682|.	D|.	0.000000|.	T|T	0.76969|0.76969	0.4062|0.4062	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.911;1.0|.	P;D|.	0.79784|.	0.646;0.993|.	T|T	0.76669|0.76669	-0.2874|-0.2874	10|5	0.54805|.	T|.	0.06|.	.|.	16.8609|16.8609	0.86018|0.86018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;133|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	F|L	81;133;133;81|50	ENSP00000400873:L81F;ENSP00000262103:L133F;ENSP00000430765:L81F|.	ENSP00000262103:L133F|.	L|P	-|-	1|2	0|0	EFCAB1|EFCAB1	49804906|49804906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.399000|6.399000	0.73248|0.73248	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CTT|CCT	-	pfscan_EF_hand_dom,prints_Recoverin		0.333	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	protein_coding	OTTHUMT00000377778.1	G	NM_024593	-		49642353	-1	no_errors	ENST00000262103	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49642353	G	A	49642353	3	1	196	1	0	0	0	0	1	0	0	0	4935	1000	35	2	250	2	EFCAB1	8	49642353	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6486595	49642353	96721669	1107	14379											
C8orf22	492307	genome.wustl.edu	37	chr8	49985427	49985427	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattggttgccttctagccaGaaatcagtattatcgaagta	8	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:49985427G>A	ENST00000303202.8	+	2	211	c.38G>A	c.(37-39)aGa>aAa	p.R13K	C8orf22_ENST00000399653.4_Missense_Mutation_p.R13K|C8orf22_ENST00000522267.1_Missense_Mutation_p.R13K|C8orf22_ENST00000517663.1_Missense_Mutation_p.R13K	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CTTCTAGCCAGAAATCAGTAT	0.423																																																	0								ENSG00000168333						189	175	179					8																	49985427		1894	4118	6012	C8orf22	SO:0001583	missense	0			-	HGNC	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.38G>A	8.37:g.49985427G>A	ENSP00000304926:p.Arg13Lys	Somatic	0	102	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	88	24.79	G3V137|Q8WVI1	Missense_Mutation	SNP							NULL	p.R13K	ENST00000303202.8	37	c.38	CCDS59101.1	8	.	.	.	.	.	.	.	.	.	.	G	2.700	-0.271275	0.05716	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.36	-1.39	0.08997	.	0.516425	0.15087	N	0.281325	T	0.20414	0.0491	.	.	.	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	7	.	.	.	-6.2201	4.3497	0.11150	0.4569:0.1797:0.3634:0.0	.	13	Q8WWR9-2	.	K	13	.	.	R	+	2	0	C8orf22	50147980	0.947000	0.32204	0.921000	0.36526	0.569000	0.35902	0.025000	0.13577	-0.587000	0.05890	-0.471000	0.05019	AGA	-	NULL		0.423	C8orf22-002	KNOWN	basic|CCDS	protein_coding	C8orf22	protein_coding	OTTHUMT00000377837.1	G	NM_001007176	-		49985427	1	no_errors	ENST00000303202	ensembl	human	known	74_37	missense	SNP	0.930	A	A	49985427	G	A	49985427	3	1	196	1	0	0	0	0	1	0	0	0	2421	942	33	2	40	2	C8orf22	8	49985427	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	343074	49985427	96378595	1108	14380											
ST18	9705	genome.wustl.edu	37	chr8	53076550	53076550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttaggggttcatacctgtGggcctggtcaggacactgcc	14	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:53076550G>A	ENST00000276480.7	-	13	2079	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	466					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCATACCTGTGGGCCTGGTCA	0.512																																																	0								ENSG00000147488						103	99	101					8																	53076550		2203	4300	6503	ST18	SO:0001583	missense	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1396C>T	8.37:g.53076550G>A	ENSP00000276480:p.His466Tyr	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	81	22.86	Q17RY1	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.H466Y	ENST00000276480.7	37	c.1396	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084425	0.36758	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45668	0.93;0.89	5.46	5.46	0.80206	.	0.050006	0.85682	D	0.000000	T	0.48370	0.1496	L	0.54323	1.7	0.46701	D	0.999168	P;P	0.50710	0.938;0.668	P;B	0.49140	0.601;0.246	T	0.26780	-1.0093	10	0.15066	T	0.55	.	19.6691	0.95903	0.0:0.0:1.0:0.0	.	466;466	E5RHS3;O60284	.;ST18_HUMAN	Y	466	ENSP00000276480:H466Y;ENSP00000428521:H466Y	ENSP00000276480:H466Y	H	-	1	0	ST18	53239103	1.000000	0.71417	0.976000	0.42696	0.833000	0.47200	5.768000	0.68858	2.721000	0.93114	0.591000	0.81541	CAC	-	NULL		0.512	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	G		-		53076550	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53076550	G	A	53076550	3	1	196	1	0	0	0	0	1	0	0	0	15219	1348	47	2	1803	2	ST18	8	53076550	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3091123	53076550	93287472	1109	14381											
ST18	9705	genome.wustl.edu	37	chr8	53079527	53079527	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgggcacttggtctccctCttttcaggccttggtgaatc	10	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:53079527C>T	ENST00000276480.7	-	11	1772	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	363					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTCTCCCTCTTTTCAGGCC	0.522																																																	0								ENSG00000147488						134	141	138					8																	53079527		2203	4300	6503	ST18	SO:0001819	synonymous_variant	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1089G>A	8.37:g.53079527C>T		Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	Q17RY1	Silent	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.K363	ENST00000276480.7	37	c.1089	CCDS6149.1	8																																																																																			-	NULL		0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	C		-		53079527	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53079527	C	T	53079527	2	4	196	1	0	0	0	0	0	0	0	1	15219	912	32	2		2	ST18	8	53079527	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2977	53079527	93284495	1110	14382											
ST18	9705	genome.wustl.edu	37	chr8	53084844	53084844	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcactttcagagttactttCattgtcatcagaggagcaga	9	8	4	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:53084844C>T	ENST00000276480.7	-	10	1260	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	193					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTACTTTCATTGTCATCA	0.438																																																	0								ENSG00000147488						93	88	90					8																	53084844		2203	4300	6503	ST18	SO:0001583	missense	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.577G>A	8.37:g.53084844C>T	ENSP00000276480:p.Glu193Lys	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.67	Q17RY1	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.E193K	ENST00000276480.7	37	c.577	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116610	0.37339	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.52754	0.73;0.65	5.73	5.73	0.89815	.	0.577070	0.20455	N	0.092005	T	0.40272	0.1110	L	0.57536	1.79	0.45452	D	0.998424	B	0.32245	0.361	B	0.22386	0.039	T	0.19484	-1.0304	10	0.16420	T	0.52	-7.2499	13.1441	0.59450	0.0:0.9272:0.0:0.0728	.	193	O60284	ST18_HUMAN	K	193	ENSP00000276480:E193K;ENSP00000428521:E193K	ENSP00000276480:E193K	E	-	1	0	ST18	53247397	0.998000	0.40836	0.368000	0.25939	0.230000	0.25150	4.180000	0.58296	2.706000	0.92434	0.655000	0.94253	GAA	-	NULL		0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	C		-		53084844	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	SNP	0.980	T	T	53084844	C	T	53084844	3	4	196	1	0	0	0	0	1	0	0	0	15219	835	29	2	2634	2	ST18	8	53084844	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5317	53084844	93279178	1111	14383											
RPS20	6224	genome.wustl.edu	37	chr8	56986679	56986679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaattcggtgaattgccaCctccggctccacgggtgttt	11	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:56986679C>T	ENST00000521262.1	-	2	296	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	RPS20_ENST00000519807.1_Missense_Mutation_p.V15M|RPS20_ENST00000518875.1_Missense_Mutation_p.V15M|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000524349.1_De_novo_Start_InFrame|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000519606.1_Missense_Mutation_p.V15M|RPS20_ENST00000523936.1_Missense_Mutation_p.V15M|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000009589.3_Missense_Mutation_p.V15M			P60866	RS20_HUMAN	ribosomal protein S20	15					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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TGAATTGCCACCTCCGGCTCC	0.468																																																	0								ENSG00000008988						69	73	72					8																	56986679		2203	4300	6503	RPS20	SO:0001583	missense	0			-	HGNC	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"S ribosomal proteins"	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.43G>A	8.37:g.56986679C>T	ENSP00000427788:p.Val15Met	Somatic	0	80	0		0.52429534266604	6029	44.43	4833	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	74	37.82	B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP							pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc	p.V15M	ENST00000521262.1	37	c.43		8	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560468	0.45590	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000521262;ENST00000523936;ENST00000519606;ENST00000518875	.	.	.	5.04	5.04	0.67666	.	0.063959	0.64402	D	0.000008	T	0.63129	0.2485	M	0.69358	2.11	0.80722	D	1	B;B	0.19445	0.003;0.036	B;B	0.14578	0.01;0.011	T	0.62101	-0.6925	9	0.06891	T	0.86	-31.362	18.4055	0.90535	0.0:1.0:0.0:0.0	.	15;15	P60866;B4DW28	RS20_HUMAN;.	M	15	.	ENSP00000009589:V15M	V	-	1	0	RPS20	57149233	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	7.575000	0.82447	2.349000	0.79799	0.563000	0.77884	GTG	-	NULL		0.468	RPS20-003	KNOWN	basic|appris_principal	protein_coding	RPS20	protein_coding	OTTHUMT00000378166.1	C	NM_001023	-		56986679	-1	no_errors	ENST00000009589	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56986679	C	T	56986679	3	4	196	1	0	0	0	0	1	0	0	0	13640	507	18	2	428	2	RPS20	8	56986679	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3901835	56986679	89377343	1112	14384											
FAM110B	90362	genome.wustl.edu	37	chr8	59059503	59059503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgcctccatgaagtcCcccgaggccgaccctgtgga	11	17	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:59059503C>T	ENST00000361488.3	+	5	1594	c.714C>T	c.(712-714)tcC>tcT	p.S238S	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	238						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCATGAAGTCCCCCGAGGCCG	0.612																																																	0								ENSG00000169122						84	93	90					8																	59059503		2203	4300	6503	FAM110B	SO:0001819	synonymous_variant	0			-	HGNC	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.714C>T	8.37:g.59059503C>T		Somatic	0	35	0		0.52429534266604	19	36.67	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q5BM08|Q9Y4K2	Silent	SNP							NULL	p.S238	ENST00000361488.3	37	c.714	CCDS6170.1	8																																																																																			-	NULL		0.612	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	protein_coding	OTTHUMT00000378095.2	C	NM_147189	-		59059503	1	no_errors	ENST00000361488	ensembl	human	known	74_37	silent	SNP	0.998	T	T	59059503	C	T	59059503	2	4	196	1	0	0	0	0	0	0	0	1	5399	610	22	2		2	FAM110B	8	59059503	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2072824	59059503	87304519	1113	14385											
ASPH	444	genome.wustl.edu	37	chr8	62430152	62430152	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaagcccaggtgcattcgGagcctgcagtttgtgggccc	13	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:62430152G>A	ENST00000379454.4	-	24	2248	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	ASPH_ENST00000541428.1_Silent_p.L658L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	687					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGTGCATTCGGAGCCTGCAGT	0.532																																																	0								ENSG00000198363						133	110	118					8																	62430152		2203	4300	6503	ASPH	SO:0001819	synonymous_variant	0			-	HGNC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2061C>T	8.37:g.62430152G>A		Somatic	0	60	0		0.52429534266604	14	30	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	49	24.24	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP							pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L687	ENST00000379454.4	37	c.2061	CCDS34898.1	8																																																																																			-	pfam_Asp_Arg_b-Hydrxlase		0.532	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	protein_coding	OTTHUMT00000378510.3	G	NM_004318	-		62430152	-1	no_errors	ENST00000379454	ensembl	human	known	74_37	silent	SNP	0.995	A	A	62430152	G	A	62430152	2	1	196	1	0	0	0	0	0	0	0	1	1053	1161	41	2		2	ASPH	8	62430152	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3370649	62430152	83933870	1114	14386											
TTPA	7274	genome.wustl.edu	37	chr8	63985641	63985641	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctccacttataatagttttTtagtaactgaaaaataaaat	3	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:63985641T>A	ENST00000260116.4	-	2	242	c.211A>T	c.(211-213)Aaa>Taa	p.K71*	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	71					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TAATAGTTTTTTAGTAACTGA	0.338																																																	0								ENSG00000137561						57	58	57					8																	63985641		2203	4300	6503	TTPA	SO:0001587	stop_gained	0			-	HGNC	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.211A>T	8.37:g.63985641T>A	ENSP00000260116:p.Lys71*	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	Q71V64	Nonsense_Mutation	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.K71*	ENST00000260116.4	37	c.211	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561998	0.86335	.	.	ENSG00000137561	ENST00000260116	.	.	.	5.82	0.617	0.17619	.	0.344942	0.35585	N	0.003116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.2631	0.31797	0.0:0.118:0.2092:0.6728	.	.	.	.	X	71	.	ENSP00000260116:K71X	K	-	1	0	TTPA	64148195	0.999000	0.42202	0.138000	0.22173	0.976000	0.68499	1.502000	0.35704	-0.397000	0.07691	-1.255000	0.01485	AAA	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran		0.338	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	protein_coding	OTTHUMT00000378460.1	T	NM_000370	-		63985641	-1	no_errors	ENST00000260116	ensembl	human	known	74_37	nonsense	SNP	0.842	A	A	63985641	T	A	63985641	4	1	196	1	0	0	0	0	0	1	0	0	16743	1850	64	5	641	5	TTPA	8	63985641	Nonsense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1555489	63985641	82378381	1115	14387											
MTFR1	9650	genome.wustl.edu	37	chr8	66605949	66605949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggcgtcttttgctgatgTtggatgggtagccaaagaag	15	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:66605949T>C	ENST00000262146.4	+	4	362	c.236T>C	c.(235-237)gTt>gCt	p.V79A	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.V46A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	79					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTTGCTGATGTTGGATGGGTA	0.418																																																	0								ENSG00000066855						100	88	92					8																	66605949		2203	4300	6503	MTFR1	SO:0001583	missense	0			-	HGNC		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.236T>C	8.37:g.66605949T>C	ENSP00000262146:p.Val79Ala	Somatic	0	83	0		0.52429534266604	8	20	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	72	23.40	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP							pfam_Mtfr1	p.V79A	ENST00000262146.4	37	c.236	CCDS6182.1	8	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591398	0.66219	.	.	ENSG00000066855	ENST00000262146;ENST00000458689	T;T	0.61040	0.14;0.14	5.83	5.83	0.93111	.	0.229133	0.44902	D	0.000402	T	0.73473	0.3591	M	0.78456	2.415	0.45477	D	0.998441	P;D;D	0.59357	0.882;0.985;0.973	P;P;P	0.62382	0.812;0.901;0.865	T	0.75560	-0.3275	9	.	.	.	-4.2741	13.5699	0.61841	0.0:0.0:0.0:1.0	.	79;46;79	B4E3G8;E7EP84;Q15390	.;.;MTFR1_HUMAN	A	79;46	ENSP00000262146:V79A;ENSP00000391502:V46A	.	V	+	2	0	MTFR1	66768503	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	4.207000	0.58480	2.217000	0.71921	0.477000	0.44152	GTT	-	pfam_Mtfr1		0.418	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	protein_coding	OTTHUMT00000378894.1	T	NM_014637	-		66605949	1	no_errors	ENST00000262146	ensembl	human	known	74_37	missense	SNP	1.000	C	C	66605949	T	C	66605949	3	2	196	1	0	0	0	0	1	0	0	0	9927	1725	60	5	246	5	MTFR1	8	66605949	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2620308	66605949	79758073	1116	14388											
C8orf34	116328	genome.wustl.edu	37	chr8	69358599	69358599	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagggatttcagaagctatGataaaccttggcaattaaat	9	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:69358599G>A	ENST00000539993.1	+	3	802	c.253G>A	c.(253-255)Gat>Aat	p.D85N	C8orf34_ENST00000523686.1_Missense_Mutation_p.D85N|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.D171N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D85N|C8orf34_ENST00000337103.4_Missense_Mutation_p.D60N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	85										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGAAGCTATGATAAACCTTG	0.338																																																	0								ENSG00000165084						101	103	102					8																	69358599		2203	4300	6503	C8orf34	SO:0001583	missense	0			-	HGNC	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.253G>A	8.37:g.69358599G>A	ENSP00000438159:p.Asp85Asn	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP							superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D171N	ENST00000539993.1	37	c.511		8	.	.	.	.	.	.	.	.	.	.	G	36	5.637853	0.96693	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.54479	0.66;0.71;0.57	6.02	6.02	0.97574	.	0.098719	0.64402	D	0.000001	T	0.68449	0.3002	L	0.47716	1.5	0.49687	D	0.999814	P;D;P	0.71674	0.592;0.998;0.592	B;D;B	0.81914	0.403;0.995;0.403	T	0.62431	-0.6856	9	.	.	.	-19.1217	20.5407	0.99260	0.0:0.0:1.0:0.0	.	85;85;85	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	N	171;85;85;85;60	ENSP00000427820:D171N;ENSP00000438159:D85N;ENSP00000337174:D60N	.	D	+	1	0	C8orf34	69521153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.345000	0.97053	2.865000	0.98341	0.655000	0.94253	GAT	-	NULL		0.338	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	protein_coding		G	NM_052958	-		69358599	1	no_errors	ENST00000518698	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69358599	G	A	69358599	3	1	196	1	0	0	0	0	1	0	0	0	2424	1290	45	2	184	2	C8orf34	8	69358599	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2752650	69358599	77005423	1117	14389											
EYA1	2138	genome.wustl.edu	37	chr8	72127655	72127655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtaaatattttctattgGaaatacaattcctaacccat	3	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:72127655G>A	ENST00000340726.3	-	16	2203	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	EYA1_ENST00000388741.2_Missense_Mutation_p.P488S|EYA1_ENST00000419131.1_Missense_Mutation_p.P487S|EYA1_ENST00000388742.4_Missense_Mutation_p.P522S|EYA1_ENST00000388743.2_Missense_Mutation_p.P521S|EYA1_ENST00000303824.7_Missense_Mutation_p.P516S|EYA1_ENST00000388740.3_Missense_Mutation_p.P489S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	522					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTCTATTGGAAATACAATT	0.353																																																	0								ENSG00000104313						74	78	77					8																	72127655		2203	4300	6503	EYA1	SO:0001583	missense	0			-	HGNC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1564C>T	8.37:g.72127655G>A	ENSP00000342626:p.Pro522Ser	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	56	38.46	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.P522S	ENST00000340726.3	37	c.1564	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.304601	0.95601	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31;-4.31;-2.59	5.52	5.52	0.82312	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.106416	0.64402	D	0.000004	D	0.97829	0.9287	M	0.66506	2.035	0.80722	D	1	D;P;P;D;D	0.54964	0.966;0.944;0.944;0.966;0.969	P;P;P;P;P	0.58780	0.5;0.669;0.536;0.5;0.845	D	0.98045	1.0384	10	0.54805	T	0.06	-13.3259	19.4345	0.94786	0.0:0.0:1.0:0.0	.	516;449;489;522;487	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	522;522;490;489;516;488;521;487	ENSP00000373394:P522S;ENSP00000342626:P522S;ENSP00000373392:P489S;ENSP00000303221:P516S;ENSP00000373393:P488S;ENSP00000373395:P521S;ENSP00000410176:P487S	ENSP00000303221:P516S	P	-	1	0	EYA1	72290209	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.760000	0.98935	2.587000	0.87381	0.563000	0.77884	CCA	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA		0.353	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	protein_coding	OTTHUMT00000313788.2	G	NM_000503, NM_172060	-		72127655	-1	no_errors	ENST00000340726	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72127655	G	A	72127655	3	1	196	1	0	0	0	0	1	0	0	0	5330	1174	41	2	226	2	EYA1	8	72127655	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2769056	72127655	74236367	1118	14390											
TRPA1	8989	genome.wustl.edu	37	chr8	72948686	72948686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttatatccataaaataatTccttttctgggatagaaaag	6	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:72948686T>C	ENST00000262209.4	-	21	2599	c.2392A>G	c.(2392-2394)Aat>Gat	p.N798D	RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	798					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATAAAATAATTCCTTTTCTGG	0.353																																																	0								ENSG00000104321						32	35	34					8																	72948686		2203	4300	6503	TRPA1	SO:0001583	missense	0			-	HGNC	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2392A>G	8.37:g.72948686T>C	ENSP00000262209:p.Asn798Asp	Somatic	0	76	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	76	21.65	A6NIN6	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N798D	ENST00000262209.4	37	c.2392	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	T	9.111	1.006678	0.19199	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.76839	-1.05;-1.05	4.53	4.53	0.55603	Ion transport (1);	0.221206	0.47093	D	0.000246	T	0.72914	0.3520	M	0.65975	2.015	0.31429	N	0.673309	B	0.19445	0.036	B	0.17098	0.017	T	0.72656	-0.4227	10	0.41790	T	0.15	-14.7538	8.8512	0.35201	0.0:0.0857:0.0:0.9143	.	798	O75762	TRPA1_HUMAN	D	650;798	ENSP00000428151:N650D;ENSP00000262209:N798D	ENSP00000262209:N798D	N	-	1	0	TRPA1	73111240	0.725000	0.28048	0.943000	0.38184	0.122000	0.20287	3.010000	0.49559	1.800000	0.52685	0.377000	0.23210	AAT	-	pfam_Ion_trans_dom		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	protein_coding	OTTHUMT00000379079.2	T	NM_007332	-		72948686	-1	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	SNP	0.949	C	C	72948686	T	C	72948686	3	2	196	1	0	0	0	0	1	0	0	0	16584	1783	62	5	995	5	TRPA1	8	72948686	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	821031	72948686	73415336	1119	14391											
FABP12	646486	genome.wustl.edu	37	chr8	82439336	82439336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttgaatcagggactcCttatctaaggttactttact	7	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:82439336C>T	ENST00000360464.4	-	3	329	c.267G>A	c.(265-267)aaG>aaA	p.K89K	RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	89							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TCAGGGACTCCTTATCTAAGG	0.388																																																	0								ENSG00000197416						85	76	78					8																	82439336		1869	4111	5980	FABP12	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"Fatty acid binding protein family"	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.267G>A	8.37:g.82439336C>T		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	48	25.00	B7SUN0	Silent	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.K89	ENST00000360464.4	37	c.267	CCDS47882.1	8																																																																																			-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.388	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP12	protein_coding	OTTHUMT00000379720.1	C	NM_001105281	-		82439336	-1	no_errors	ENST00000360464	ensembl	human	known	74_37	silent	SNP	0.002	T	T	82439336	C	T	82439336	2	4	196	1	0	0	0	0	0	0	0	1	5358	680	24	2		2	FABP12	8	82439336	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9490650	82439336	63924686	1120	14392											
CNBD1	168975	genome.wustl.edu	37	chr8	88298887	88298887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttaaatggaaaaaatttCctccaggtcatggtaagttt	7	7	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:88298887C>T	ENST00000518476.1	+	8	1081	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	344										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAAAAAATTTCCTCCAGGTCA	0.289																																																	0								ENSG00000176571						53	47	49					8																	88298887		1693	3765	5458	CNBD1	SO:0001583	missense	0			-	HGNC	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1030C>T	8.37:g.88298887C>T	ENSP00000430073:p.Pro344Ser	Somatic	0	136	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	79	38.46		Missense_Mutation	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P344S	ENST00000518476.1	37	c.1030	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152018	0.57151	.	.	ENSG00000176571	ENST00000518476	D	0.92752	-3.1	5.49	3.7	0.42460	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.532999	0.17325	N	0.178339	D	0.93367	0.7885	M	0.66939	2.045	0.29890	N	0.825293	D	0.67145	0.996	P	0.60345	0.873	D	0.88167	0.2861	10	0.37606	T	0.19	-11.9095	8.1105	0.30911	0.0:0.8166:0.0:0.1834	.	344	Q8NA66	CNBD1_HUMAN	S	344	ENSP00000430073:P344S	ENSP00000430073:P344S	P	+	1	0	CNBD1	88368003	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.580000	0.36547	0.799000	0.34018	0.655000	0.94253	CCT	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom		0.289	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	protein_coding	OTTHUMT00000375113.2	C	NM_173538	-		88298887	1	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88298887	C	T	88298887	3	4	196	1	0	0	0	0	1	0	0	0	3593	855	30	2	1060	2	CNBD1	8	88298887	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5859551	88298887	58065135	1121	14393											
TMEM55A	55529	genome.wustl.edu	37	chr8	92032477	92032477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatatttcttgcctgttggGgggtttttgattggctggat	13	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:92032477G>A	ENST00000285419.3	-	3	584	c.270C>T	c.(268-270)ccC>ccT	p.P90P	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	90						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)			TGCCTGTTGGGGGGTTTTTGA	0.398																																																	0								ENSG00000155099						102	105	104					8																	92032477		2203	4300	6503	TMEM55A	SO:0001819	synonymous_variant	0			-	HGNC	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.270C>T	8.37:g.92032477G>A		Somatic	0	94	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	80	35.71	B2R9H4|Q68CU2	Silent	SNP							pfam_Transmembrane_protein_55A/B	p.P90	ENST00000285419.3	37	c.270	CCDS6252.1	8																																																																																			-	pfam_Transmembrane_protein_55A/B		0.398	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	protein_coding	OTTHUMT00000376778.1	G	NM_018710	-		92032477	-1	no_errors	ENST00000285419	ensembl	human	known	74_37	silent	SNP	0.978	A	A	92032477	G	A	92032477	2	1	196	1	0	0	0	0	0	0	0	1	16188	1219	43	2		2	TMEM55A	8	92032477	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3733590	92032477	54331545	1122	14394											
RBM12B	389677	genome.wustl.edu	37	chr8	94747818	94747818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaacgagaacgtgttcttCtgggagattttgaatgagac	14	5	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:94747818C>T	ENST00000399300.2	-	3	1034	c.821G>A	c.(820-822)aGa>aAa	p.R274K	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.R274K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	274							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACGTGTTCTTCTGGGAGATTT	0.378																																																	0								ENSG00000183808						98	91	93					8																	94747818		1833	4098	5931	RBM12B	SO:0001583	missense	0			-	HGNC		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.821G>A	8.37:g.94747818C>T	ENSP00000382239:p.Arg274Lys	Somatic	0	70	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	A8MYB5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R274K	ENST00000399300.2	37	c.821	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392414	0.25118	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.29655	1.56;1.56	5.36	4.49	0.54785	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000001	T	0.18173	0.0436	N	0.19112	0.55	0.29268	N	0.870878	B	0.02656	0.0	B	0.04013	0.001	T	0.14309	-1.0477	10	0.16420	T	0.52	-8.4691	10.723	0.46050	0.0:0.8529:0.0:0.1471	.	274	Q8IXT5	RB12B_HUMAN	K	274	ENSP00000382239:R274K;ENSP00000427729:R274K	ENSP00000382239:R274K	R	-	2	0	RBM12B	94816994	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.034000	0.49751	1.396000	0.46663	0.591000	0.81541	AGA	-	NULL		0.378	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	protein_coding	OTTHUMT00000383603.1	C	NM_203390	-		94747818	-1	no_errors	ENST00000399300	ensembl	human	known	74_37	missense	SNP	0.997	T	T	94747818	C	T	94747818	3	4	196	1	0	0	0	0	1	0	0	0	13122	913	32	2	2188	2	RBM12B	8	94747818	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2715341	94747818	51616204	1123	14395											
PDP1	54704	genome.wustl.edu	37	chr8	94934287	94934287	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactgttctctgatgcCatgccagcaccaactcaact	6	16	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:94934287C>T	ENST00000297598.4	+	0	269				PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000517764.1_5'UTR|PDP1_ENST00000396200.3_Silent_p.A25A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1						cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTCTGATGCCATGCCAGCAC	0.448																																																	0								ENSG00000164951						142	135	137					8																	94934287		2203	4300	6503	PDP1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.-1C>T	8.37:g.94934287C>T		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	B3KX71|J3KPU0|Q5U5K1	Silent	SNP							pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.A25	ENST00000297598.4	37	c.75	CCDS6259.1	8																																																																																			-	NULL		0.448	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	protein_coding	OTTHUMT00000378415.2	C	NM_018444	-		94934287	1	no_errors	ENST00000396200	ensembl	human	known	74_37	silent	SNP	1.000	T	T	94934287	C	T	94934287	1	4	196	0	1	0	0	0	0	0	0	0	11687	581	21	2		2	PDP1	8	94934287	5'UTR	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	186469	94934287	51429735	1124	14396											
CDH17	1015	genome.wustl.edu	37	chr8	95164118	95164118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgtccagaccttctggatCcttggcagtcacattgccca	8	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:95164118C>T	ENST00000027335.3	-	13	1898	c.1774G>A	c.(1774-1776)Gat>Aat	p.D592N	CDH17_ENST00000450165.2_Missense_Mutation_p.D592N|CDH17_ENST00000441892.2_Missense_Mutation_p.D378N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTTCTGGATCCTTGGCAGTC	0.527																																																	0								ENSG00000079112						164	119	134					8																	95164118		2203	4300	6503	CDH17	SO:0001583	missense	0			-	HGNC	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1774G>A	8.37:g.95164118C>T	ENSP00000027335:p.Asp592Asn	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	44	27.87	Q15336|Q2M2E0	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D592N	ENST00000027335.3	37	c.1774	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.178112	0.94846	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.74526	-0.85;-0.85;-0.85	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	D	0.91379	0.7280	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93736	0.7046	10	0.87932	D	0	-31.1631	17.1582	0.86797	0.0:1.0:0.0:0.0	.	378;592	E7EN24;Q12864	.;CAD17_HUMAN	N	592;378;592	ENSP00000027335:D592N;ENSP00000392811:D378N;ENSP00000401468:D592N	ENSP00000027335:D592N	D	-	1	0	CDH17	95233294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.331000	0.65905	2.865000	0.98341	0.655000	0.94253	GAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	protein_coding	OTTHUMT00000378560.1	C	NM_004063	-		95164118	-1	no_errors	ENST00000027335	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95164118	C	T	95164118	3	4	196	1	0	0	0	0	1	0	0	0	3104	855	30	2	748	2	CDH17	8	95164118	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	229831	95164118	51199904	1125	14397											
UQCRB	7381	genome.wustl.edu	37	chr8	97247742	97247742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccccagttacttaccgGcctgcttaccagccattttg	7	15	0	1	rs200758329		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:97247742G>A	ENST00000287022.5	-	1	120	c.17C>T	c.(16-18)gCc>gTc	p.A6V	UQCRB_ENST00000518406.1_Missense_Mutation_p.A6V|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000517523.1_5'Flank|UQCRB_ENST00000523920.1_Missense_Mutation_p.A6V	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	6				A -> G (in Ref. 2; AAA60236). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.A6G(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TTACTTACCGGCCTGCTTACC	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		18614	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)						ENSG00000156467						118	109	112					8																	97247742		2203	4300	6503	UQCRB	SO:0001583	missense	0			GMAF=0.0005	HGNC	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.17C>T	8.37:g.97247742G>A	ENSP00000287022:p.Ala6Val	Somatic	0	71	0		0.52429534266604	1605	15.64	298	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	66	32.65	E5RJU0|Q6FGD1	Missense_Mutation	SNP							pfam_QCR7,superfamily_QCR7	p.A6V	ENST00000287022.5	37	c.17	CCDS6269.1	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.50	2.851706	0.51270	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.44083	0.93;0.93;0.93	4.2	4.2	0.49525	.	0.544734	0.19684	N	0.108435	T	0.40522	0.1120	M	0.62723	1.935	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.37572	-0.9700	10	0.56958	D	0.05	-11.7994	12.2323	0.54495	0.0:0.0:1.0:0.0	.	6	P14927	QCR7_HUMAN	V	6	ENSP00000287022:A6V;ENSP00000430494:A6V;ENSP00000430560:A6V	ENSP00000287022:A6V	A	-	2	0	UQCRB	97316918	0.018000	0.18449	0.005000	0.12908	0.023000	0.10783	2.217000	0.42880	2.323000	0.78572	0.655000	0.94253	GCC	-	superfamily_QCR7		0.532	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRB	protein_coding	OTTHUMT00000379863.1	G	NM_006294	rs200758329		97247742	-1	no_errors	ENST00000521036	ensembl	human	known	74_37	missense	SNP	0.006	A	A	97247742	G	A	97247742	3	1	196	1	0	0	0	0	1	0	0	0	17025	1203	42	2	334	2	UQCRB	8	97247742	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2083624	97247742	49116280	1126	14398											
VPS13B	157680	genome.wustl.edu	37	chr8	100115205	100115205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcagagtctgattagacGagttgtaaataatgtaaaca	10	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:100115205G>A	ENST00000358544.2	+	5	548	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	VPS13B_ENST00000355155.1_Missense_Mutation_p.R146Q|VPS13B_ENST00000441350.2_Missense_Mutation_p.R146Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.R146Q|VPS13B_ENST00000395996.1_Missense_Mutation_p.R146Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	146					protein transport (GO:0015031)			p.R146Q(2)		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)			CTGATTAGACGAGTTGTAAAT	0.274																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	large_intestine(2)						ENSG00000132549						82	84	83					8																	100115205		2203	4298	6501	VPS13B	SO:0001583	missense	0			-	HGNC	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.437G>A	8.37:g.100115205G>A	ENSP00000351346:p.Arg146Gln	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.R146Q	ENST00000358544.2	37	c.437	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796268	0.90453	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.82984	-1.11;-0.41;-0.41;-0.12;-1.67	5.94	5.07	0.68467	.	0.000000	0.64402	D	0.000002	D	0.89677	0.6784	M	0.66939	2.045	0.47862	D	0.999538	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.99;0.992;0.992;0.989;0.962	D	0.89949	0.4078	10	0.51188	T	0.08	.	15.1108	0.72355	0.0676:0.0:0.9324:0.0	.	146;146;146;146;146	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Q	146	ENSP00000347281:R146Q;ENSP00000349685:R146Q;ENSP00000351346:R146Q;ENSP00000379318:R146Q;ENSP00000398472:R146Q	ENSP00000347281:R146Q	R	+	2	0	VPS13B	100184381	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.086000	0.94088	1.524000	0.49035	-0.259000	0.10710	CGA	-	NULL		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	G	NM_184042	-		100115205	1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100115205	G	A	100115205	3	1	196	1	0	0	0	0	1	0	0	0	17197	1058	37	1	451	1	VPS13B	8	100115205	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2867463	100115205	46248817	1127	14399											
VPS13B	157680	genome.wustl.edu	37	chr8	100286549	100286549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatcaataaaaatttgtgCcaaagccccaggtatgtgca	10	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:100286549C>T	ENST00000358544.2	+	18	2750	c.2639C>T	c.(2638-2640)gCc>gTc	p.A880V	VPS13B_ENST00000357162.2_Missense_Mutation_p.A880V|VPS13B_ENST00000395996.1_Missense_Mutation_p.A880V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	880					protein transport (GO:0015031)					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)			AAAATTTGTGCCAAAGCCCCA	0.438																																					Colon(161;2205 2542 7338 31318)												0								ENSG00000132549						87	92	90					8																	100286549		2203	4300	6503	VPS13B	SO:0001583	missense	0			-	HGNC	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.2639C>T	8.37:g.100286549C>T	ENSP00000351346:p.Ala880Val	Somatic	0	131	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	90	37.93	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.A880V	ENST00000358544.2	37	c.2639	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641707	0.67244	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.69561	-0.41;-0.41;-0.12	5.65	5.65	0.86999	.	0.075027	0.56097	N	0.000035	T	0.70272	0.3205	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.997	T	0.62426	-0.6857	10	0.10902	T	0.67	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	880;880;880;880	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	V	880	ENSP00000349685:A880V;ENSP00000351346:A880V;ENSP00000379318:A880V	ENSP00000349685:A880V	A	+	2	0	VPS13B	100355725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.634000	0.67833	2.826000	0.97356	0.563000	0.77884	GCC	-	NULL		0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	C	NM_184042	-		100286549	1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100286549	C	T	100286549	3	4	196	1	0	0	0	0	1	0	0	0	17197	739	26	2	2828	2	VPS13B	8	100286549	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	171344	100286549	46077473	1128	14400											
RGS22	26166	genome.wustl.edu	37	chr8	101065132	101065132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccttggttttgcttgacgGaggtgccagaatttcagttc	11	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:101065132G>A	ENST00000360863.6	-	10	1781	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	RGS22_ENST00000523437.1_Silent_p.L517L|RGS22_ENST00000523287.1_Silent_p.L348L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	529					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTGCTTGACGGAGGTGCCAGA	0.413																																																	0								ENSG00000132554						207	206	206					8																	101065132		1900	4115	6015	RGS22	SO:0001819	synonymous_variant	0			-	HGNC	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1587C>T	8.37:g.101065132G>A		Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	97	9.35	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.L529	ENST00000360863.6	37	c.1587	CCDS43758.1	8																																																																																			-	NULL		0.413	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	protein_coding	OTTHUMT00000380365.1	G	NM_015668	-		101065132	-1	no_errors	ENST00000360863	ensembl	human	known	74_37	silent	SNP	0.564	A	A	101065132	G	A	101065132	2	1	196	1	0	0	0	0	0	0	0	1	13313	1161	41	2		2	RGS22	8	101065132	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	778583	101065132	45298890	1129	14401											
DCAF13	25879	genome.wustl.edu	37	chr8	104432637	104432637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatggagtcaattgcttGgcaaagcatccagagaagct	12	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:104432637G>T	ENST00000297579.5	+	2	949	c.672G>T	c.(670-672)ttG>ttT	p.L224F	DCAF13_ENST00000519682.1_Missense_Mutation_p.L68F|DCAF13_ENST00000521971.1_Missense_Mutation_p.L68F|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521716.1_Missense_Mutation_p.L68F	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	72					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCAATTGCTTGGCAAAGCATC	0.418																																																	0								ENSG00000164934						80	77	78					8																	104432637		2203	4300	6503	DCAF13	SO:0001583	missense	0			-	HGNC	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.672G>T	8.37:g.104432637G>T	ENSP00000297579:p.Leu224Phe	Somatic	0	62	0		0.52429534266604	55	48.6	52	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	55	38.20	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP							pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L224F	ENST00000297579.5	37	c.672	CCDS34934.1	8	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252994	0.59212	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.64803	-0.12;4.74;-0.12;-0.12	5.26	3.46	0.39613	.	0.265958	0.41396	D	0.000882	T	0.68659	0.3025	M	0.87456	2.885	0.40393	D	0.979565	P	0.49253	0.921	P	0.49829	0.623	T	0.70464	-0.4864	10	0.48119	T	0.1	-15.448	5.1816	0.15163	0.1545:0.0:0.5646:0.2809	.	72	B3KME9	.	F	224;68;68;72;68	ENSP00000297579:L224F;ENSP00000430645:L68F;ENSP00000430883:L68F;ENSP00000430411:L68F	ENSP00000297579:L224F	L	+	3	2	DCAF13	104501813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.534000	0.36051	1.222000	0.43521	0.655000	0.94253	TTG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.418	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	protein_coding	OTTHUMT00000380797.2	G	NM_015420	-		104432637	1	no_errors	ENST00000297579	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104432637	G	T	104432637	3	4	196	1	0	0	0	0	1	0	0	0	4268	1339	47	3	678	3	DCAF13	8	104432637	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3367505	104432637	41931385	1130	14402											
RIMS2	9699	genome.wustl.edu	37	chr8	105263957	105263957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacttttcccaccttcctCcctagtagatccaaccttgg	4	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:105263957C>T	ENST00000436393.2	+	28	4254	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	RIMS2_ENST00000339750.2_Missense_Mutation_p.S256F|RIMS2_ENST00000262231.10_Missense_Mutation_p.S1159F|RIMS2_ENST00000507740.1_Missense_Mutation_p.S1134F|RIMS2_ENST00000406091.3_Missense_Mutation_p.S1320F			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1382	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCTTCCTCCCTAGTAGAT	0.443										HNSCC(12;0.0054)																																							0								ENSG00000176406						168	168	168					8																	105263957		1874	4102	5976	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4013C>T	8.37:g.105263957C>T	ENSP00000390665:p.Ser1338Phe	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	57	30.49	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1320F	ENST00000436393.2	37	c.3959		8	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761941	0.69763	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.64	5.64	0.86602	.	.	.	.	.	D	0.89259	0.6664	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90000	0.4114	9	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	1338;1159;1134;1320	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	F	1357;1320;1382;1159;1134;1338;256;256	ENSP00000384892:S1320F;ENSP00000262231:S1159F;ENSP00000423559:S1134F;ENSP00000390665:S1338F;ENSP00000428478:S256F;ENSP00000342051:S256F	ENSP00000262231:S1159F	S	+	2	0	RIMS2	105333133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.809000	0.86057	2.660000	0.90430	0.655000	0.94253	TCC	-	superfamily_C2_dom		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	C	NM_001100117	-		105263957	1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105263957	C	T	105263957	3	4	196	1	0	0	0	0	1	0	0	0	13376	855	30	2	4249	2	RIMS2	8	105263957	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	831320	105263957	41100065	1131	14403											
TM7SF4	81501	genome.wustl.edu	37	chr8	105361403	105361403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaccacagaggtgttgtCctccctgggtcagaagctac	10	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:105361403C>T	ENST00000297581.2	+	2	672	c.623C>T	c.(622-624)tCc>tTc	p.S208F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S208F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	208					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)											GAGGTGTTGTCCTCCCTGGGT	0.542																																																	0								ENSG00000164935						107	97	101					8																	105361403		2203	4300	6503	DCSTAMP	SO:0001583	missense	0			-	HGNC	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.623C>T	8.37:g.105361403C>T	ENSP00000297581:p.Ser208Phe	Somatic	0	33	0		0.52429534266604	58	1.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP							pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.S208F	ENST00000297581.2	37	c.623	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045247	0.55110	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.35048	1.33	5.52	4.64	0.57946	.	0.290340	0.39615	N	0.001307	T	0.45994	0.1370	L	0.53249	1.67	0.29027	N	0.885913	D	0.57899	0.981	P	0.57371	0.819	T	0.41875	-0.9484	9	.	.	.	-12.16	9.198	0.37240	0.0:0.7763:0.1472:0.0766	.	208	Q9H295	TM7S4_HUMAN	F	208	ENSP00000297581:S208F	.	S	+	2	0	TM7SF4	105430579	0.895000	0.30542	0.069000	0.20011	0.698000	0.40448	2.323000	0.43823	1.341000	0.45600	0.555000	0.69702	TCC	-	NULL		0.542	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	protein_coding	OTTHUMT00000380810.1	C	NM_030788	-		105361403	1	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	SNP	0.690	T	T	105361403	C	T	105361403	3	4	196	1	0	0	0	0	1	0	0	0	15983	855	30	2	625	2	TM7SF4	8	105361403	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	97446	105361403	41002619	1132	14404											
LRP12	29967	genome.wustl.edu	37	chr8	105509592	105509592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcaatgccaatacccAtcacaacgctgctgctcagt	8	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:105509592A>C	ENST00000276654.5	-	5	1296	c.1188T>G	c.(1186-1188)gaT>gaG	p.D396E	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.D377E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	396	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAATACCCATCACAACGCT	0.463																																																	0								ENSG00000147650						116	107	110					8																	105509592		2203	4300	6503	LRP12	SO:0001583	missense	0			-	HGNC	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1188T>G	8.37:g.105509592A>C	ENSP00000276654:p.Asp396Glu	Somatic	0	45	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	A8K137|B4DRQ2	Missense_Mutation	SNP							pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D377E	ENST00000276654.5	37	c.1131	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761633	0.69763	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.72615	-0.67;-0.67	5.66	-4.56	0.03431	.	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.88310	2.945	0.80722	D	1	P;P	0.48162	0.906;0.849	P;B	0.45881	0.496;0.301	T	0.72484	-0.4279	10	0.87932	D	0	-29.6372	8.4607	0.32925	0.4619:0.0:0.434:0.1041	.	377;396	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	377;396	ENSP00000399148:D377E;ENSP00000276654:D396E	ENSP00000276654:D396E	D	-	3	2	LRP12	105578768	0.643000	0.27269	0.332000	0.25469	0.943000	0.58893	-0.002000	0.12924	-1.150000	0.02840	-0.475000	0.04921	GAT	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.463	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	protein_coding	OTTHUMT00000380821.1	A	NM_013437	-		105509592	-1	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	SNP	0.913	C	C	105509592	A	C	105509592	3	2	196	1	0	0	0	0	1	0	0	0	8956	214	8	5	1403	5	LRP12	8	105509592	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	148189	105509592	40854430	1133	14405											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110439312	110439312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaagaatctcagttacacGagagggaacctgtgctggct	14	8	1	2	rs372146755		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:110439312G>A	ENST00000378402.5	+	25	3031	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	976					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)			TCAGTTACACGAGAGGGAACC	0.542										HNSCC(38;0.096)																																							0								ENSG00000205038	G	GLN/ARG	0,3910		0,0,1955	72	75	74		2927	5.4	0.8	8		74	1,8347		0,1,4173	no	missense	PKHD1L1	NM_177531.4	43	0,1,6128	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	976/4244	110439312	1,12257	1955	4174	6129	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.2927G>A	8.37:g.110439312G>A	ENSP00000367655:p.Arg976Gln	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	84	16.67	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.R976Q	ENST00000378402.5	37	c.2927	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715833	0.68844	0.0	1.2E-4	ENSG00000205038	ENST00000378402	D	0.88046	-2.33	5.45	5.45	0.79879	.	0.229665	0.33631	N	0.004713	D	0.88876	0.6556	M	0.78801	2.425	0.24072	N	0.995976	D	0.63880	0.993	P	0.46585	0.521	D	0.84763	0.0763	10	0.56958	D	0.05	.	14.7717	0.69684	0.0:0.0:1.0:0.0	.	976	Q86WI1	PKHL1_HUMAN	Q	976	ENSP00000367655:R976Q	ENSP00000367655:R976Q	R	+	2	0	PKHD1L1	110508488	0.990000	0.36364	0.793000	0.32043	0.345000	0.29048	3.693000	0.54735	2.550000	0.86006	0.585000	0.79938	CGA	-	NULL		0.542	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-		110439312	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	0.963	A	A	110439312	G	A	110439312	3	1	196	1	0	0	0	0	1	0	0	0	11974	1058	37	1	3025	1	PKHD1L1	8	110439312	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4929720	110439312	35924710	1134	14406											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110471921	110471921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaaattacacacacttaGgaattacggtcacactccct	4	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:110471921G>A	ENST00000378402.5	+	47	7206	c.7102G>A	c.(7102-7104)Gga>Aga	p.G2368R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2368					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)			CACACACTTAGGAATTACGGT	0.373										HNSCC(38;0.096)																																							0								ENSG00000205038						74	71	72					8																	110471921		1880	4114	5994	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.7102G>A	8.37:g.110471921G>A	ENSP00000367655:p.Gly2368Arg	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	55	32.93	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G2368R	ENST00000378402.5	37	c.7102	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336989	0.81801	.	.	ENSG00000205038	ENST00000378402	D	0.92149	-2.98	5.44	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.89414	3.03	0.36359	D	0.860557	D	0.69078	0.997	D	0.71414	0.973	D	0.98321	1.0528	10	0.66056	D	0.02	.	12.0866	0.53700	0.084:0.0:0.916:0.0	.	2368	Q86WI1	PKHL1_HUMAN	R	2368	ENSP00000367655:G2368R	ENSP00000367655:G2368R	G	+	1	0	PKHD1L1	110541097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.189000	0.72051	1.305000	0.44909	0.455000	0.32223	GGA	-	NULL		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-		110471921	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110471921	G	A	110471921	3	1	196	1	0	0	0	0	1	0	0	0	11974	1001	35	2	7288	2	PKHD1L1	8	110471921	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	32609	110471921	35892101	1135	14407											
CSMD3	114788	genome.wustl.edu	37	chr8	113299463	113299463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggatcgccacatgtcCcagtagcatcacctgcaatg	8	14	1	0	rs150721502		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113299463C>T	ENST00000297405.5	-	58	9405	c.9161G>A	c.(9160-9162)gGg>gAg	p.G3054E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2984E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3014E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2885E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3054	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3054E(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						GCCACATGTCCCAGTAGCATC	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	skin(1)						ENSG00000164796						104	96	99					8																	113299463		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.9161G>A	8.37:g.113299463C>T	ENSP00000297405:p.Gly3054Glu	Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	58	23.68	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G3054E	ENST00000297405.5	37	c.9161	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438590	0.83885	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.1;2.1;2.12;1.8;2.12	5.32	5.32	0.75619	Complement control module (1);Sushi/SCR/CCP (1);	0.068131	0.64402	D	0.000019	T	0.47525	0.1450	M	0.72894	2.215	0.58432	D	0.999996	P;P;P	0.48589	0.843;0.594;0.912	P;B;P	0.58873	0.487;0.231;0.847	T	0.18116	-1.0347	10	0.21540	T	0.41	.	19.4253	0.94739	0.0:1.0:0.0:0.0	.	2885;3054;3014	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	3014;3054;2324;2885;2984	ENSP00000345799:G3014E;ENSP00000297405:G3054E;ENSP00000341558:G2324E;ENSP00000412263:G2885E;ENSP00000343124:G2984E	ENSP00000297405:G3054E	G	-	2	0	CSMD3	113368639	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.828000	0.69307	2.661000	0.90470	0.644000	0.83932	GGG	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	rs150721502		113299463	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113299463	C	T	113299463	3	4	196	1	0	0	0	0	1	0	0	0	3948	623	22	2	2018	2	CSMD3	8	113299463	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2827542	113299463	33064559	1136	14408											
CSMD3	114788	genome.wustl.edu	37	chr8	113323300	113323300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaacaagtcggaatcctcGatcacaggcccaacggacca	8	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113323300G>A	ENST00000297405.5	-	50	8036	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2528*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2558*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2494*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2598	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						CGGAATCCTCGATCACAGGCC	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						163	132	143					8																	113323300		2203	4300	6503	CSMD3	SO:0001587	stop_gained	0			-	HGNC	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.7792C>T	8.37:g.113323300G>A	ENSP00000297405:p.Arg2598*	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	46	48.39	Q96PZ3	Nonsense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2598*	ENST00000297405.5	37	c.7792	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	49	15.612859	0.99839	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6956	0.77494	0.0:0.0:0.8619:0.1381	.	.	.	.	X	2558;2598;1868;2494;2528	.	ENSP00000297405:R2598X	R	-	1	2	CSMD3	113392476	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.769000	0.47654	1.316000	0.45131	0.655000	0.94253	CGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113323300	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	113323300	G	A	113323300	4	1	196	1	0	0	0	0	0	1	0	0	3948	1066	37	1	3419	1	CSMD3	8	113323300	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	23837	113323300	33040722	1137	14409											
CSMD3	114788	genome.wustl.edu	37	chr8	113358374	113358374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcaatctaaactgctggGatagtttccaggaaacccag	10	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113358374G>A	ENST00000297405.5	-	41	6638	c.6394C>T	c.(6394-6396)Ccc>Tcc	p.P2132S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2062S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2092S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2028S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2132	CUB 12. {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						AAACTGCTGGGATAGTTTCCA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						114	116	115					8																	113358374		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.6394C>T	8.37:g.113358374G>A	ENSP00000297405:p.Pro2132Ser	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	50	24.24	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P2132S	ENST00000297405.5	37	c.6394	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.224466	0.95139	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.54	5.54	0.83059	CUB (5);	0.164766	0.41396	D	0.000894	T	0.60431	0.2268	M	0.83118	2.625	0.80722	D	1	P;P;D	0.89917	0.951;0.537;1.0	P;B;D	0.97110	0.767;0.216;1.0	T	0.55711	-0.8098	10	0.30078	T	0.28	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	2028;2132;2092	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2092;2132;1402;2028;2062	ENSP00000345799:P2092S;ENSP00000297405:P2132S;ENSP00000341558:P1402S;ENSP00000412263:P2028S;ENSP00000343124:P2062S	ENSP00000297405:P2132S	P	-	1	0	CSMD3	113427550	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.612000	0.98347	2.880000	0.98712	0.650000	0.86243	CCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113358374	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113358374	G	A	113358374	3	1	196	1	0	0	0	0	1	0	0	0	3948	1174	41	2	4853	2	CSMD3	8	113358374	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	35074	113358374	33005648	1138	14410											
CSMD3	114788	genome.wustl.edu	37	chr8	113694682	113694682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacttacctccacattttGgaatcagtccactccacatt	3	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113694682G>A	ENST00000297405.5	-	16	2910	c.2666C>T	c.(2665-2667)cCa>cTa	p.P889L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P889L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P849L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P785L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	889	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TCCACATTTTGGAATCAGTCC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						135	131	132					8																	113694682		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.2666C>T	8.37:g.113694682G>A	ENSP00000297405:p.Pro889Leu	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	64	20.99	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P889L	ENST00000297405.5	37	c.2666	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492365	0.84962	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.42	5.42	0.78866	Complement control module (2);Sushi/SCR/CCP (3);	0.074895	0.53938	D	0.000043	D	0.91050	0.7184	M	0.92691	3.335	0.58432	D	0.999998	D;D;B	0.89917	1.0;1.0;0.289	D;D;B	0.97110	1.0;1.0;0.209	D	0.91577	0.5276	10	0.44086	T	0.13	.	19.2183	0.93786	0.0:0.0:1.0:0.0	.	785;889;849	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	849;889;229;785;889	ENSP00000345799:P849L;ENSP00000297405:P889L;ENSP00000341558:P229L;ENSP00000412263:P785L;ENSP00000343124:P889L	ENSP00000297405:P889L	P	-	2	0	CSMD3	113763858	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.546000	0.85860	0.650000	0.86243	CCA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113694682	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113694682	G	A	113694682	3	1	196	1	0	0	0	0	1	0	0	0	3948	1348	47	2	8681	2	CSMD3	8	113694682	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	336308	113694682	32669340	1139	14411											
SNTB1	6641	genome.wustl.edu	37	chr8	121706083	121706083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggattcaggcggaggtgtttCccacccaatctcggatactg	12	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:121706083C>T	ENST00000395601.3	-	3	1051	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	SNTB1_ENST00000517992.1_Missense_Mutation_p.E213K|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	213	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGAGGTGTTTCCCACCCAATC	0.537																																																	0								ENSG00000172164						95	98	97					8																	121706083		2203	4300	6503	SNTB1	SO:0001583	missense	0			-	HGNC	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.637G>A	8.37:g.121706083C>T	ENSP00000378965:p.Glu213Lys	Somatic	0	102	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	82	31.15	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP							pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E213K	ENST00000395601.3	37	c.637	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.157941	0.94686	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.56444	0.46;0.46	5.44	5.44	0.79542	Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.43598	1.365	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63703	0.917;0.879	T	0.55736	-0.8094	10	0.25106	T	0.35	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	213;213	Q13884;Q13884-2	SNTB1_HUMAN;.	K	213	ENSP00000378965:E213K;ENSP00000431124:E213K	ENSP00000378965:E213K	E	-	1	0	SNTB1	121775264	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	GAA	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.537	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	protein_coding	OTTHUMT00000381535.1	C	NM_021021	-		121706083	-1	no_errors	ENST00000395601	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121706083	C	T	121706083	3	4	196	1	0	0	0	0	1	0	0	0	14880	864	30	2	1003	2	SNTB1	8	121706083	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8011401	121706083	24657939	1140	14412											
ZNF572	137209	genome.wustl.edu	37	chr8	125989596	125989596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaaagttctgaatatgaGgaaagtttgggtcagaactg	12	3	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:125989596G>A	ENST00000319286.5	+	3	1240	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	362					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGAATATGAGGAAAGTTTGG	0.383										HNSCC(60;0.17)																																							0								ENSG00000180938						83	81	82					8																	125989596		2203	4300	6503	ZNF572	SO:0001819	synonymous_variant	0			-	HGNC	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1086G>A	8.37:g.125989596G>A		Somatic	0	44	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A1L4F1|Q8N1Q0	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E362	ENST00000319286.5	37	c.1086	CCDS6354.1	8																																																																																			-	NULL		0.383	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	protein_coding	OTTHUMT00000381359.1	G	NM_152412	-		125989596	1	no_errors	ENST00000319286	ensembl	human	known	74_37	silent	SNP	0.158	A	A	125989596	G	A	125989596	2	1	196	1	0	0	0	0	0	0	0	1	18011	991	35	2		2	ZNF572	8	125989596	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4283513	125989596	20374426	1141	14413											
ASAP1	50807	genome.wustl.edu	37	chr8	131129212	131129212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtagtgtagaactgtgtttCccagggccgtctgcttatcc	11	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:131129212C>T	ENST00000518721.1	-	21	2137	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	ASAP1_ENST00000357668.1_Missense_Mutation_p.G637E	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	637					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTGTGTTTCCCAGGGCCGT	0.383																																																	0								ENSG00000153317						97	96	97					8																	131129212		2203	4300	6503	ASAP1	SO:0001583	missense	0			-	HGNC	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1910G>A	8.37:g.131129212C>T	ENSP00000429900:p.Gly637Glu	Somatic	0	59	0		0.52429534266604	9	10	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	B2RNV3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.G637E	ENST00000518721.1	37	c.1910	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.166732	0.94768	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.73575	-0.76;-0.76	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.053704	0.85682	D	0.000000	D	0.88451	0.6440	M	0.87682	2.9	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	0.90092	0.4178	10	0.87932	D	0	.	18.385	0.90464	0.0:1.0:0.0:0.0	.	637;637;640	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	E	640;637;637	ENSP00000350297:G637E;ENSP00000429900:G637E	ENSP00000344591:G640E	G	-	2	0	ASAP1	131198394	1.000000	0.71417	0.965000	0.40720	0.972000	0.66771	7.770000	0.85390	2.587000	0.87381	0.655000	0.94253	GGA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.383	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	protein_coding	OTTHUMT00000380170.1	C	NM_018482	-		131129212	-1	no_errors	ENST00000357668	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131129212	C	T	131129212	3	4	196	1	0	0	0	0	1	0	0	0	1010	855	30	2	1519	2	ASAP1	8	131129212	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5139616	131129212	15234810	1142	14414											
TG	7038	genome.wustl.edu	37	chr8	133923744	133923744	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcacggcttgaggacatCccagtggcttctcttcctga	9	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:133923744C>T	ENST00000220616.4	+	19	4165	c.4125C>T	c.(4123-4125)atC>atT	p.I1375I	TG_ENST00000377869.1_Silent_p.I1375I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1375					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGAGGACATCCCAGTGGCTT	0.463																																																	0								ENSG00000042832						216	193	201					8																	133923744		2203	4300	6503	TG	SO:0001819	synonymous_variant	0			-	HGNC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4125C>T	8.37:g.133923744C>T		Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	73	26.26	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP							pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.I1375	ENST00000220616.4	37	c.4125	CCDS34944.1	8																																																																																			-	pirsf_Thyroglobulin		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	C	NM_003235	-		133923744	1	no_errors	ENST00000220616	ensembl	human	known	74_37	silent	SNP	0.026	T	T	133923744	C	T	133923744	2	4	196	1	0	0	0	0	0	0	0	1	15820	845	30	2		2	TG	8	133923744	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2794532	133923744	12440278	1143	14415											
ZFAT	57623	genome.wustl.edu	37	chr8	135596113	135596113	+	Missense_Mutation	SNP	C	C	T													gtttgtgacttttcagtgtcCcttttgatttgaatttcttg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:135596113C>T	ENST00000377838.3	-	10	3023	c.2849G>A	c.(2848-2850)gGg>gAg	p.G950E	ZFAT_ENST00000520727.1_Missense_Mutation_p.G938E|ZFAT_ENST00000520214.1_Missense_Mutation_p.G938E|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Missense_Mutation_p.G938E|ZFAT_ENST00000429442.2_Missense_Mutation_p.G938E|ZFAT_ENST00000523399.1_Missense_Mutation_p.G888E	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	950					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTCAGTGTCCCTTTTGATTT	0.443																																																	0								ENSG00000066827						170	153	158					8																	135596113		1961	4165	6126	ZFAT	SO:0001583	missense	0			-	HGNC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2849G>A	8.37:g.135596113C>T	ENSP00000367069:p.Gly950Glu	Somatic	0	92	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	72	37.39	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G950E	ENST00000377838.3	37	c.2849	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290412	0.80914	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.277534	0.38326	N	0.001739	T	0.24044	0.0582	L	0.34521	1.04	0.34804	D	0.737069	D;D;D	0.89917	0.991;1.0;0.961	P;D;P	0.68621	0.629;0.959;0.541	T	0.04579	-1.0941	10	0.45353	T	0.12	-34.0567	18.7762	0.91912	0.0:1.0:0.0:0.0	.	888;938;950	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	E	938;938;938;950;938;837;888	ENSP00000427879:G938E;ENSP00000427831:G938E;ENSP00000394501:G938E;ENSP00000367069:G950E;ENSP00000428483:G938E;ENSP00000429091:G888E	ENSP00000326997:G837E	G	-	2	0	ZFAT	135665295	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.793000	0.62474	2.669000	0.90835	0.563000	0.77884	GGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	C	NM_001029939	-		135596113	-1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135596113	C	T	135596113	3	4	196	1	0	0	0	0	1	0	0	0	17639	623	22	2	910	2	ZFAT	8	135596113	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1672369	135596113	10767909	1144	14416	292	2									
ZFAT	57623	genome.wustl.edu	37	chr8	135596114	135596114	+	Missense_Mutation	SNP	C	C	A													tttgtgacttttcagtgtccCttttgatttgaatttcttgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:135596114C>A	ENST00000377838.3	-	10	3022	c.2848G>T	c.(2848-2850)Ggg>Tgg	p.G950W	ZFAT_ENST00000520727.1_Missense_Mutation_p.G938W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G938W|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Missense_Mutation_p.G938W|ZFAT_ENST00000429442.2_Missense_Mutation_p.G938W|ZFAT_ENST00000523399.1_Missense_Mutation_p.G888W	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	950					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCAGTGTCCCTTTTGATTTG	0.443																																																	0								ENSG00000066827						168	151	156					8																	135596114		1960	4163	6123	ZFAT	SO:0001583	missense	0			-	HGNC	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2848G>T	8.37:g.135596114C>A	ENSP00000367069:p.Gly950Trp	Somatic	0	94	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	74	36.75	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G950W	ENST00000377838.3	37	c.2848	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587188	0.66105	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.277534	0.38326	N	0.001739	T	0.26484	0.0647	L	0.45698	1.435	0.34804	D	0.737064	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77557	0.955;0.99;0.936	T	0.13072	-1.0523	10	0.87932	D	0	-34.0567	14.0751	0.64885	0.0:0.9255:0.0:0.0745	.	888;938;950	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	W	938;938;938;950;938;837;888	ENSP00000427879:G938W;ENSP00000427831:G938W;ENSP00000394501:G938W;ENSP00000367069:G950W;ENSP00000428483:G938W;ENSP00000429091:G888W	ENSP00000326997:G837W	G	-	1	0	ZFAT	135665296	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.792000	0.38754	2.669000	0.90835	0.563000	0.77884	GGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	C	NM_001029939	-		135596114	-1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135596114	C	A	135596114	3	1	196	1	0	0	0	0	1	0	0	0	17639	681	24	3	911	3	ZFAT	8	135596114	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	135596114	10767908	1145	14417	292	2									
FAM135B	51059	genome.wustl.edu	37	chr8	139164548	139164548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctctagggagttccggtGgagggcatgtcttcgaacaa	13	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:139164548G>A	ENST00000395297.1	-	13	2340	c.2170C>T	c.(2170-2172)Cac>Tac	p.H724Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	724										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGTTCCGGTGGAGGGCATGT	0.557										HNSCC(54;0.14)																																							0								ENSG00000147724						42	43	43					8																	139164548		2005	4182	6187	FAM135B	SO:0001583	missense	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2170C>T	8.37:g.139164548G>A	ENSP00000378710:p.His724Tyr	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP							pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.H724Y	ENST00000395297.1	37	c.2170	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419793	0.62622	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.56769	1.78	0.48901	D	0.999722	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.946	T	0.02190	-1.1198	10	0.17369	T	0.5	-23.024	13.6628	0.62376	0.0:0.0:0.8457:0.1543	.	724;724;724	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	724	ENSP00000378710:H724Y	ENSP00000276737:H724Y	H	-	1	0	FAM135B	139233730	1.000000	0.71417	0.960000	0.40013	0.693000	0.40251	7.236000	0.78154	2.678000	0.91216	0.655000	0.94253	CAC	-	NULL		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	G	NM_015912	-		139164548	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	SNP	0.993	A	A	139164548	G	A	139164548	3	1	196	1	0	0	0	0	1	0	0	0	5451	1348	47	2	2082	2	FAM135B	8	139164548	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3568434	139164548	7199474	1146	14418											
COL22A1	169044	genome.wustl.edu	37	chr8	139601522	139601522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttcacattacccggccGggcagcaaggctggcgaagt	12	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:139601522G>A	ENST00000303045.6	-	65	5301	c.4855C>T	c.(4855-4857)Cgg>Tgg	p.R1619W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1599W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1619					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)			TTACCCGGCCGGGCAGCAAGG	0.597										HNSCC(7;0.00092)																																							0								ENSG00000169436						34	36	35					8																	139601522		2203	4300	6503	COL22A1	SO:0001583	missense	0			-	HGNC	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.4855C>T	8.37:g.139601522G>A	ENSP00000303153:p.Arg1619Trp	Somatic	0	92	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	62	43.12	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP							pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.R1619W	ENST00000303045.6	37	c.4855	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400277	0.62177	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.90133	-2.62;-2.53	6.03	6.03	0.97812	.	0.145918	0.30473	N	0.009557	D	0.94496	0.8228	M	0.71581	2.175	0.48830	D	0.999716	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.874	D	0.94339	0.7569	10	0.72032	D	0.01	.	13.8423	0.63446	0.0:0.0:0.7428:0.2572	.	1599;1619	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1619;1599;1312	ENSP00000303153:R1619W;ENSP00000387655:R1599W	ENSP00000303153:R1619W	R	-	1	2	COL22A1	139670704	0.993000	0.37304	0.993000	0.49108	0.863000	0.49368	1.127000	0.31357	2.861000	0.98227	0.655000	0.94253	CGG	-	NULL		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	G	XM_291257	-		139601522	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139601522	G	A	139601522	3	1	196	1	0	0	0	0	1	0	0	0	3683	1115	39	1	29	1	COL22A1	8	139601522	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	436974	139601522	6762500	1147	14419											
COL22A1	169044	genome.wustl.edu	37	chr8	139838954	139838954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatataccagtcttccttccGagaggttttcctgaaccgga	9	11	1	2	rs57718799	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:139838954G>A	ENST00000303045.6	-	6	1362	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R306W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	306	Laminin G-like.				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)			TCTTCCTTCCGAGAGGTTTTC	0.507										HNSCC(7;0.00092)																																							0								ENSG00000169436						148	122	131					8																	139838954		2203	4300	6503	COL22A1	SO:0001583	missense	0			-	HGNC	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.916C>T	8.37:g.139838954G>A	ENSP00000303153:p.Arg306Trp	Somatic	0	52	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	66	12.00	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP							pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.R306W	ENST00000303045.6	37	c.916	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868373	0.72065	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.14022	2.54;2.54	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.44902	D	0.000420	T	0.33411	0.0862	M	0.68317	2.08	0.53005	D	0.999967	D	0.89917	1.0	D	0.87578	0.998	T	0.01541	-1.1329	9	.	.	.	.	11.6388	0.51220	0.0:0.0:0.7166:0.2834	.	306	Q8NFW1	COMA1_HUMAN	W	306	ENSP00000303153:R306W;ENSP00000387655:R306W	.	R	-	1	2	COL22A1	139908136	0.998000	0.40836	0.996000	0.52242	0.900000	0.52787	2.448000	0.44926	2.452000	0.82932	0.644000	0.83932	CGG	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	G	XM_291257	-		139838954	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	SNP	0.994	A	A	139838954	G	A	139838954	3	1	196	1	0	0	0	0	1	0	0	0	3683	1057	37	1	4204	1	COL22A1	8	139838954	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	237432	139838954	6525068	1148	14420											
TOP1MT	116447	genome.wustl.edu	37	chr8	144407684	144407684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcttgctgaagttttTctgcctcttcttttagcttc	6	11	4	1	rs200673353	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144407684T>C	ENST00000329245.4	-	5	537	c.503A>G	c.(502-504)gAa>gGa	p.E168G	TOP1MT_ENST00000519148.1_Missense_Mutation_p.E70G|TOP1MT_ENST00000523676.1_Missense_Mutation_p.E70G|TOP1MT_ENST00000521193.1_Missense_Mutation_p.E70G	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	168					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTGAAGTTTTTCTGCCTCTTC	0.468													T|||	2	0.000399361	8e-04	0.0014	5008	,	,		21459	0		0	False		,,,				2504	0																0								ENSG00000184428						115	116	116					8																	144407684		2202	4300	6502	TOP1MT	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.503A>G	8.37:g.144407684T>C	ENSP00000328835:p.Glu168Gly	Somatic	0	55	0		0.52429534266604	53	34.94	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP							pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.E168G	ENST00000329245.4	37	c.503	CCDS6400.1	8	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	16.07	3.018240	0.54576	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	3.25	3.25	0.37280	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.138001	0.32258	U	0.006346	T	0.59155	0.2173	M	0.86740	2.835	0.49051	D	0.999747	P	0.38167	0.621	P	0.45195	0.473	T	0.65442	-0.6167	10	0.72032	D	0.01	.	10.7462	0.46181	0.0:0.0:0.0:1.0	.	168	Q969P6	TOP1M_HUMAN	G	168;70;70;70;70;70	ENSP00000328835:E168G;ENSP00000428369:E70G;ENSP00000429169:E70G;ENSP00000429181:E70G;ENSP00000427998:E70G;ENSP00000429177:E70G	ENSP00000328835:E168G	E	-	2	0	TOP1MT	144479059	0.999000	0.42202	0.697000	0.30258	0.537000	0.34900	5.000000	0.63940	1.094000	0.41399	0.496000	0.49642	GAA	-	pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk		0.468	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	protein_coding	OTTHUMT00000381247.3	T	NM_052963	rs200673353		144407684	-1	no_errors	ENST00000329245	ensembl	human	known	74_37	missense	SNP	1.000	C	C	144407684	T	C	144407684	3	2	196	1	0	0	0	0	1	0	0	0	16371	1783	62	5	1342	5	TOP1MT	8	144407684	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	4568730	144407684	1956338	1149	14421											
ZNF623	9831	genome.wustl.edu	37	chr8	144733164	144733164	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcacactggagagaaactCtatgaatgtaacgagtgtgg	11	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144733164C>T	ENST00000501748.2	+	1	1211	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	ZNF623_ENST00000458270.2_Silent_p.L334L|ZNF623_ENST00000526926.1_Silent_p.L334L	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	374					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGAGAAACTCTATGAATGTA	0.448																																																	0								ENSG00000183309						70	68	68					8																	144733164		2203	4300	6503	ZNF623	SO:0001819	synonymous_variant	0			-	HGNC	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1122C>T	8.37:g.144733164C>T		Somatic	0	61	0		0.52429534266604	6	45.45	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	59	36.56	A4FU80|B4DGP3|E7ENV5	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L374	ENST00000501748.2	37	c.1122	CCDS34957.1	8																																																																																			-	pfscan_Znf_C2H2		0.448	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	protein_coding	OTTHUMT00000382522.3	C	NM_014789	-		144733164	1	no_errors	ENST00000501748	ensembl	human	known	74_37	silent	SNP	0.785	T	T	144733164	C	T	144733164	2	4	196	1	0	0	0	0	0	0	0	1	18054	900	32	2		2	ZNF623	8	144733164	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	325480	144733164	1630858	1150	14422											
MAPK15	225689	genome.wustl.edu	37	chr8	144803783	144803783	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctgctccaaactgctctCctagggaatggggaaaggcc	11	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144803783C>T	ENST00000338033.4	+	12	1388	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	423					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACTGCTCTCCTAGGGAATG	0.662																																																	0								ENSG00000181085						79	91	87					8																	144803783		1912	4124	6036	MAPK15	SO:0001819	synonymous_variant	0			-	HGNC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1269C>T	8.37:g.144803783C>T		Somatic	0	58	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	49	27.94	Q2TCF9|Q8N362	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L423	ENST00000338033.4	37	c.1269	CCDS6409.2	8																																																																																			-	NULL		0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	protein_coding	OTTHUMT00000300348.1	C	NM_139021	-		144803783	1	no_errors	ENST00000338033	ensembl	human	known	74_37	silent	SNP	0.006	T	T	144803783	C	T	144803783	2	4	196	1	0	0	0	0	0	0	0	1	9279	842	30	2		2	MAPK15	8	144803783	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	70619	144803783	1560239	1151	14423											
EPPK1	83481	genome.wustl.edu	37	chr8	144946875	144946875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacagcttgtgccatgtctCccggtccaggaggccctggt	13	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144946875C>T	ENST00000525985.1	-	2	618	c.547G>A	c.(547-549)Gag>Aag	p.E183K				P58107	EPIPL_HUMAN	epiplakin 1	183						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCATGTCTCCCGGTCCAGG	0.677																																																	0								ENSG00000227184						16	20	18					8																	144946875		2066	4190	6256	EPPK1	SO:0001583	missense	0			-	HGNC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.547G>A	8.37:g.144946875C>T	ENSP00000436337:p.Glu183Lys	Somatic	0	14	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	Q76E58|Q9NSU9	Missense_Mutation	SNP							pfam_Plectin_repeat,smart_Plectin_repeat	p.E183K	ENST00000525985.1	37	c.547		8	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450472	0.43531	.	.	ENSG00000227184	ENST00000525985	T	0.76578	-1.03	4.14	3.25	0.37280	.	.	.	.	.	T	0.56934	0.2019	N	0.08118	0	0.09310	N	1	B	0.21071	0.051	B	0.26517	0.07	T	0.45963	-0.9225	9	0.26408	T	0.33	.	6.4757	0.22034	0.0:0.7786:0.0:0.2214	.	183	E9PPU0	.	K	183	ENSP00000436337:E183K	ENSP00000436337:E183K	E	-	1	0	EPPK1	145018863	0.548000	0.26473	0.990000	0.47175	0.379000	0.30106	2.291000	0.43540	1.076000	0.40961	0.407000	0.27541	GAG	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	C	NM_031308	-		144946875	-1	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	SNP	0.027	T	T	144946875	C	T	144946875	3	4	196	1	0	0	0	0	1	0	0	0	5192	864	30	2	6719	2	EPPK1	8	144946875	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	143092	144946875	1417147	1152	14424											
PLEC	5339	genome.wustl.edu	37	chr8	144991328	144991328	+	Nonsense_Mutation	SNP	G	G	A													gagcgtgccggcgcggtactGgtccagtgccgagcggtcga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144991328G>A	ENST00000322810.4	-	32	13241	c.13072C>T	c.(13072-13074)Cag>Tag	p.Q4358*	PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4248*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4199*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4221*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4221*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4225*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4244*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4207*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4189*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4358	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						GCGCGGTACTGGTCCAGTGCC	0.652																																																	0								ENSG00000178209						50	64	59					8																	144991328		2136	4229	6365	PLEC	SO:0001587	stop_gained	0			-	HGNC	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.13072C>T	8.37:g.144991328G>A	ENSP00000323856:p.Gln4358*	Somatic	0	19	0		0.52429534266604	370	33.69	189	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q4358*	ENST00000322810.4	37	c.13072	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	54	22.329381	0.99947	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.24	5.24	0.73138	.	0.190111	0.33691	U	0.004646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.6231	0.91328	0.0:0.0:1.0:0.0	.	.	.	.	X	4221;4225;4221;4189;4358;4199;4207;4248;4244	.	ENSP00000323856:Q4358X	Q	-	1	0	PLEC	145063316	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.402000	0.73260	2.726000	0.93360	0.549000	0.68633	CAG	-	NULL		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	G	NM_000445	-		144991328	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	144991328	G	A	144991328	4	1	196	1	0	0	0	0	0	1	0	0	12054	1357	47	2	986	2	PLEC	8	144991328	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	44453	144991328	1372694	1153	14425	293	2									
PLEC	5339	genome.wustl.edu	37	chr8	144991329	144991329	+	Silent	SNP	G	G	A													agcgtgccggcgcggtactgGtccagtgccgagcggtcgat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144991329G>A	ENST00000322810.4	-	32	13240	c.13071C>T	c.(13069-13071)gaC>gaT	p.D4357D	PLEC_ENST00000436759.2_Silent_p.D4247D|PLEC_ENST00000354958.2_Silent_p.D4198D|PLEC_ENST00000354589.3_Silent_p.D4220D|PLEC_ENST00000345136.3_Silent_p.D4220D|PLEC_ENST00000357649.2_Silent_p.D4224D|PLEC_ENST00000527096.1_Silent_p.D4243D|PLEC_ENST00000356346.3_Silent_p.D4206D|PLEC_ENST00000398774.2_Silent_p.D4188D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4357	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						CGCGGTACTGGTCCAGTGCCG	0.647																																																	0								ENSG00000178209						50	64	59					8																	144991329		2133	4229	6362	PLEC	SO:0001819	synonymous_variant	0			-	HGNC	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.13071C>T	8.37:g.144991329G>A		Somatic	0	19	0		0.52429534266604	378	32.98	186	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.D4357	ENST00000322810.4	37	c.13071	CCDS43772.1	8																																																																																			-	NULL		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	G	NM_000445	-		144991329	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	SNP	1.000	A	A	144991329	G	A	144991329	2	1	196	1	0	0	0	0	0	0	0	1	12054	1252	44	2		2	PLEC	8	144991329	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	144991329	1372693	1154	14426	293	2									
PLEC	5339	genome.wustl.edu	37	chr8	144996492	144996492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgctgtagcaggctgtcCttttcagagaggaagctttg	12	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144996492C>A	ENST00000322810.4	-	32	8077	c.7908G>T	c.(7906-7908)aaG>aaT	p.K2636N	PLEC_ENST00000436759.2_Missense_Mutation_p.K2526N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2477N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2499N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2499N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2503N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2522N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2485N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2467N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2636	Central fibrous rod domain.				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						GCAGGCTGTCCTTTTCAGAGA	0.612																																																	0								ENSG00000178209						24	27	26					8																	144996492		2113	4224	6337	PLEC	SO:0001583	missense	0			-	HGNC	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.7908G>T	8.37:g.144996492C>A	ENSP00000323856:p.Lys2636Asn	Somatic	0	18	0		0.52429534266604	15	61.54	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.K2636N	ENST00000322810.4	37	c.7908	CCDS43772.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.415|2.415	-0.334356|-0.334356	0.05278|0.05278	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	T;T;D;D;D;T;T;T;T|.	0.81659|.	-1.48;-1.49;-1.52;-1.52;-1.5;-1.48;-1.48;-1.48;-1.48|.	4.38|4.38	1.6|1.6	0.23607|0.23607	.|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.58163|0.58163	0.2103|0.2103	L|L	0.58101|0.58101	1.795|1.795	0.43230|0.43230	D|D	0.995126|0.995126	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|.	0.91635|.	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999|.	T|T	0.50600|0.50600	-0.8809|-0.8809	10|5	0.66056|.	D|.	0.02|.	.|.	7.9224|7.9224	0.29854|0.29854	0.0:0.5688:0.0:0.4312|0.0:0.5688:0.0:0.4312	.|.	2526;2485;2477;2636;2467;2499;2503;2499|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	N|M	2499;2503;2499;2467;2636;2477;2485;2526;2522|69	ENSP00000344848:K2499N;ENSP00000350277:K2503N;ENSP00000346602:K2499N;ENSP00000381756:K2467N;ENSP00000323856:K2636N;ENSP00000347044:K2477N;ENSP00000348702:K2485N;ENSP00000388180:K2526N;ENSP00000434583:K2522N|.	ENSP00000323856:K2636N|.	K|R	-|-	3|2	2|0	PLEC|PLEC	145068480|145068480	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.216000|0.216000	0.24613|0.24613	0.838000|0.838000	0.27572|0.27572	0.146000|0.146000	0.19002|0.19002	-0.414000|-0.414000	0.06135|0.06135	AAG|AGG	-	NULL		0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	C	NM_000445	-		144996492	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	SNP	0.998	A	A	144996492	C	A	144996492	3	1	196	1	0	0	0	0	1	0	0	0	12054	680	24	3	6150	3	PLEC	8	144996492	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5163	144996492	1367530	1155	14427											
GPAA1	8733	genome.wustl.edu	37	chr8	145140974	145140974	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttcccactgctgtcCctgggcctctacccctgctg	8	19	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145140974C>A	ENST00000355091.4	+	12	1933	c.1812C>A	c.(1810-1812)tcC>tcA	p.S604S	GPAA1_ENST00000361036.6_Silent_p.S544S	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	604					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACTGCTGTCCCTGGGCCTCT	0.632																																																	0								ENSG00000197858						52	57	55					8																	145140974		2012	4177	6189	GPAA1	SO:0001819	synonymous_variant	0			-	HGNC	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1812C>A	8.37:g.145140974C>A		Somatic	0	25	0		0.52429534266604	948	29.38	396	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	14	51.72	Q9NSS0|Q9UQ31	Silent	SNP							pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.S604	ENST00000355091.4	37	c.1812	CCDS43776.1	8																																																																																			-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	protein_coding	OTTHUMT00000384070.1	C	NM_003801	-		145140974	1	no_errors	ENST00000355091	ensembl	human	known	74_37	silent	SNP	0.786	A	A	145140974	C	A	145140974	2	1	196	1	0	0	0	0	0	0	0	1	6589	610	22	3		3	GPAA1	8	145140974	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	144482	145140974	1223048	1156	14428											
ADCK5	203054	genome.wustl.edu	37	chr8	145616617	145616617	+	Silent	SNP	C	C	T													gacatccacaccctggagctCctgctgcggctcgttgaggt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145616617C>T	ENST00000308860.6	+	7	785	c.741C>T	c.(739-741)ctC>ctT	p.L247L	ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	247	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCTGGAGCTCCTGCTGCGGC	0.637																																																	0								ENSG00000173137						63	62	62					8																	145616617		2202	4300	6502	ADCK5	SO:0001819	synonymous_variant	0			-	HGNC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.741C>T	8.37:g.145616617C>T		Somatic	0	82	0		0.52429534266604	18	28	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	111	29.11	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP							pfam_UbiB_dom,superfamily_Kinase-like_dom	p.L247	ENST00000308860.6	37	c.741	CCDS34965.1	8																																																																																			-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	protein_coding	OTTHUMT00000382556.2	C	NM_174922	-		145616617	1	no_errors	ENST00000308860	ensembl	human	known	74_37	silent	SNP	0.990	T	T	145616617	C	T	145616617	2	4	196	1	0	0	0	0	0	0	0	1	291	842	30	2		2	ADCK5	8	145616617	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	475643	145616617	747405	1157	14429	294	2									
ADCK5	203054	genome.wustl.edu	37	chr8	145616618	145616618	+	Silent	SNP	C	C	T													acatccacaccctggagctcCtgctgcggctcgttgaggtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145616618C>T	ENST00000308860.6	+	7	786	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	248	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGGAGCTCCTGCTGCGGCT	0.637																																																	0								ENSG00000173137						62	61	61					8																	145616618		2202	4300	6502	ADCK5	SO:0001819	synonymous_variant	0			-	HGNC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.742C>T	8.37:g.145616618C>T		Somatic	0	82	0		0.52429534266604	18	28	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	111	29.11	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP							pfam_UbiB_dom,superfamily_Kinase-like_dom	p.L248	ENST00000308860.6	37	c.742	CCDS34965.1	8																																																																																			-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	protein_coding	OTTHUMT00000382556.2	C	NM_174922	-		145616618	1	no_errors	ENST00000308860	ensembl	human	known	74_37	silent	SNP	1.000	T	T	145616618	C	T	145616618	2	4	196	1	0	0	0	0	0	0	0	1	291	680	24	2		2	ADCK5	8	145616618	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	145616618	747404	1158	14430	294	2									
NFKBIL2	4796	genome.wustl.edu	37	chr8	145659074	145659074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaaggggcaggcgtgcagGagggaggccagggactggcc	21	8	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145659074G>A	ENST00000409379.3	-	22	3485	c.3456C>T	c.(3454-3456)ctC>ctT	p.L1152L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1152					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)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGCGTGCAGGAGGGAGGCCA	0.642																																																	0								ENSG00000160949						40	46	44					8																	145659074		2202	4300	6502	TONSL	SO:0001819	synonymous_variant	0			-	HGNC		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.3456C>T	8.37:g.145659074G>A		Somatic	0	48	0		0.52429534266604	11	62.07	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L1152	ENST00000409379.3	37	c.3456	CCDS34968.2	8																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	G	NM_013432	-		145659074	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	silent	SNP	0.973	A	A	145659074	G	A	145659074	2	1	196	1	0	0	0	0	0	0	0	1	10384	1161	41	2		2	NFKBIL2	8	145659074	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	42456	145659074	704948	1159	14431											
KIFC2	90990	genome.wustl.edu	37	chr8	145694172	145694172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaggtttggtcagcacCtttacccagagctgtcaggg	12	12	2	1	rs140291243	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145694172C>T	ENST00000301332.2	+	10	1445	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	KIFC2_ENST00000301331.5_Silent_p.T104T	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	356					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGTCAGCACCTTTACCCAGA	0.652																																																	0								ENSG00000167702						87	95	92					8																	145694172		2203	4300	6503	KIFC2	SO:0001819	synonymous_variant	0			-	HGNC	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1068C>T	8.37:g.145694172C>T		Somatic	0	82	0		0.52429534266604	20	51.22	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	63	30.00	E9PHB2|Q96NN6	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.T356	ENST00000301332.2	37	c.1068	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576774	0.28092	.	.	ENSG00000167702	ENST00000528415	.	.	.	4.54	2.72	0.32119	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46275	-0.9203	4	.	.	.	-8.3163	7.5692	0.27898	0.1884:0.6298:0.1818:0.0	.	.	.	.	F	177	.	.	L	+	1	0	KIFC2	145664980	0.127000	0.22367	1.000000	0.80357	0.972000	0.66771	0.049000	0.14099	0.363000	0.24346	0.556000	0.70494	CTT	-	NULL		0.652	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	protein_coding	OTTHUMT00000382052.2	C	NM_145754	-		145694172	1	no_errors	ENST00000301332	ensembl	human	known	74_37	silent	SNP	1.000	T	T	145694172	C	T	145694172	2	4	196	1	0	0	0	0	0	0	0	1	8315	668	24	2		2	KIFC2	8	145694172	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	35098	145694172	669850	1160	14432											
LRRC24	441381	genome.wustl.edu	37	chr8	145749572	145749572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagctggttcctgctgaGgtccagcagtgctagggagg	16	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145749572G>A	ENST00000529415.2	-	4	646	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	LRRC24_ENST00000533758.1_Missense_Mutation_p.L174F|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	177						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCTGCTGAGGTCCAGCAGT	0.612																																																	0								ENSG00000254402						77	81	79					8																	145749572		2202	4300	6502	LRRC24	SO:0001583	missense	0			-	HGNC	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.529C>T	8.37:g.145749572G>A	ENSP00000434849:p.Leu177Phe	Somatic	0	19	0		0.52429534266604	74	35.09	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00		Missense_Mutation	SNP							pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L177F	ENST00000529415.2	37	c.529	CCDS34969.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466278	0.84425	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.76186	-1.0;-1.0	4.55	4.55	0.56014	.	0.074222	0.53938	D	0.000052	D	0.85835	0.5789	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.87748	0.2590	10	0.87932	D	0	.	12.6709	0.56866	0.0:0.0:1.0:0.0	.	174;177	G3V1D8;Q50LG9	.;LRC24_HUMAN	F	177;174	ENSP00000434849:L177F;ENSP00000435653:L174F	ENSP00000434849:L177F	L	-	1	0	LRRC24	145720380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.405000	0.66351	2.350000	0.79820	0.561000	0.74099	CTC	-	smart_Leu-rich_rpt_typical-subtyp		0.612	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	protein_coding	OTTHUMT00000382501.2	G	NM_001024678	-		145749572	-1	no_errors	ENST00000529415	ensembl	human	known	74_37	missense	SNP	1.000	A	A	145749572	G	A	145749572	3	1	196	1	0	0	0	0	1	0	0	0	8981	1000	35	2	1020	2	LRRC24	8	145749572	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	55400	145749572	614450	1161	14433											
ARHGAP39	80728	genome.wustl.edu	37	chr8	145773498	145773498	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccatggggggctcatcgtaGatgggggcctggtactccac	15	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145773498G>A	ENST00000276826.5	-	4	1173	c.972C>T	c.(970-972)atC>atT	p.I324I	ARHGAP39_ENST00000377307.2_Silent_p.I324I|ARHGAP39_ENST00000540274.1_Silent_p.I324I|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	324	Pro-rich.				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)				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						GCTCATCGTAGATGGGGGCCT	0.706																																																	0								ENSG00000147799						23	27	26					8																	145773498		2034	4054	6088	ARHGAP39	SO:0001819	synonymous_variant	0			-	HGNC		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.972C>T	8.37:g.145773498G>A		Somatic	0	8	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	B4E1I1	Silent	SNP							pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.I324	ENST00000276826.5	37	c.972		8																																																																																			-	NULL		0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	protein_coding	OTTHUMT00000382509.1	G		-		145773498	-1	no_errors	ENST00000377307	ensembl	human	known	74_37	silent	SNP	1.000	A	A	145773498	G	A	145773498	2	1	196	1	0	0	0	0	0	0	0	1	884	932	33	2		2	ARHGAP39	8	145773498	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	23926	145773498	590524	1162	14434											
GLIS3	169792	genome.wustl.edu	37	chr9	3828338	3828338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgctgatctgcaagaaGgtagcatcttcagccccgct	11	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:3828338G>A	ENST00000324333.10	-	10	2455	c.2262C>T	c.(2260-2262)acC>acT	p.T754T	GLIS3_ENST00000381971.3_Silent_p.T909T|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	754					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)		TCTGCAAGAAGGTAGCATCTT	0.542																																																	0								ENSG00000107249						64	62	62					9																	3828338		2203	4300	6503	GLIS3	SO:0001819	synonymous_variant	0			-	HGNC	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.2262C>T	9.37:g.3828338G>A		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	34	46.88	B1AL19|Q1PHK5	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T909	ENST00000324333.10	37	c.2727	CCDS6451.1	9																																																																																			-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	protein_coding	OTTHUMT00000051559.1	G	NM_152629	-		3828338	-1	no_errors	ENST00000381971	ensembl	human	known	74_37	silent	SNP	0.005	A	A	3828338	G	A	3828338	2	1	196	1	0	0	0	0	0	0	0	1	6449	987	35	2		2	GLIS3	9	3828338	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		3828338	137385093	1163	14435											
SLC1A1	6505	genome.wustl.edu	37	chr9	4572361	4572361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgctttgagtgatgcaaCcatgaaaatcgttcagatca	8	8	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:4572361C>T	ENST00000262352.3	+	7	976	c.740C>T	c.(739-741)aCc>aTc	p.T247I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	247					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)	AGTGATGCAACCATGAAAATC	0.398																																																	0								ENSG00000106688						184	172	176					9																	4572361		2203	4300	6503	SLC1A1	SO:0001583	missense	0			-	HGNC		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.740C>T	9.37:g.4572361C>T	ENSP00000262352:p.Thr247Ile	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP							pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.T247I	ENST00000262352.3	37	c.740	CCDS6452.1	9	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020644	0.54576	.	.	ENSG00000106688	ENST00000262352	T	0.55234	0.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	N	0.04043	-0.29	0.80722	D	1	B	0.22983	0.078	B	0.40534	0.332	T	0.27872	-1.0061	10	0.06365	T	0.9	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	247	P43005	EAA3_HUMAN	I	247	ENSP00000262352:T247I	ENSP00000262352:T247I	T	+	2	0	SLC1A1	4562361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.259000	0.51515	2.708000	0.92522	0.650000	0.86243	ACC	-	pfam_Na-dicarboxylate_symporter		0.398	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	protein_coding	OTTHUMT00000051571.1	C		-		4572361	1	no_errors	ENST00000262352	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4572361	C	T	4572361	3	4	196	1	0	0	0	0	1	0	0	0	14439	507	18	2	766	2	SLC1A1	9	4572361	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	744023	4572361	136641070	1164	14436											
RLN2	6019	genome.wustl.edu	37	chr9	5300362	5300362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctcagacagggttaacttCagctcctgtggcaaattagc	9	10	2	1	rs555680741		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:5300362C>T	ENST00000381627.3	-	2	682	c.294G>A	c.(292-294)ctG>ctA	p.L98L	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	98					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GGGTTAACTTCAGCTCCTGTG	0.348																																																	0								ENSG00000107014						113	115	114					9																	5300362		2203	4300	6503	RLN2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.294G>A	9.37:g.5300362C>T		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP							pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.L98	ENST00000381627.3	37	c.294	CCDS6460.1	9																																																																																			-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin		0.348	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	protein_coding	OTTHUMT00000051619.1	C	NM_134441	-		5300362	-1	no_errors	ENST00000381627	ensembl	human	known	74_37	silent	SNP	0.003	T	T	5300362	C	T	5300362	2	4	196	1	0	0	0	0	0	0	0	1	13400	813	29	2		2	RLN2	9	5300362	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	728001	5300362	135913069	1165	14437											
MPDZ	8777	genome.wustl.edu	37	chr9	13196121	13196121	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtcagctaacctaccActatttcatagttaattccc	5	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:13196121A>T	ENST00000319217.7	-	13	1902	c.1655T>A	c.(1654-1656)gTg>gAg	p.V552E	MPDZ_ENST00000546205.1_Splice_Site_p.V552E|MPDZ_ENST00000447879.1_Splice_Site_p.V552E|MPDZ_ENST00000381022.2_Splice_Site_p.V552E|MPDZ_ENST00000541718.1_Splice_Site_p.V552E|MPDZ_ENST00000381015.4_Splice_Site_p.V552E|MPDZ_ENST00000536827.1_Splice_Site_p.V552E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	552					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)		CTAACCTACCACTATTTCATA	0.378																																																	0								ENSG00000107186						152	135	140					9																	13196121		1869	4096	5965	MPDZ	SO:0001630	splice_region_variant	0			-	HGNC	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.1656+1T>A	9.37:g.13196121A>T		Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	30	50.00	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V552E	ENST00000319217.7	37	c.1655		9	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100474	0.76983	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.48	5.48	0.80851	.	0.000000	0.40640	N	0.001044	T	0.52403	0.1732	L	0.29908	0.895	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	0.54036	-0.8353	10	0.52906	T	0.07	.	14.1345	0.65279	1.0:0.0:0.0:0.0	.	552;552;552	B7ZMI4;O75970-3;O75970-2	.;.;.	E	552	ENSP00000320006:V552E;ENSP00000439807:V552E;ENSP00000370410:V552E;ENSP00000444151:V552E;ENSP00000415208:V552E;ENSP00000370403:V552E;ENSP00000446358:V552E	ENSP00000320006:V552E	V	-	2	0	MPDZ	13186121	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.760000	0.74939	2.070000	0.61991	0.460000	0.39030	GTG	-	superfamily_PDZ		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	A	NM_003829	-	Missense_Mutation	13196121	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13196121	A	T	13196121	5	4	196	1	0	0	0	0	0	0	1	0	9724	173	6	5	4606	5	MPDZ	9	13196121	Splice_Site	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	7895759	13196121	128017310	1166	14438											
C9orf93	203238	genome.wustl.edu	37	chr9	15846728	15846728	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaggcaaagatggagctgaGaagaaaagatcaatctctgc	12	7	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:15846728G>A	ENST00000380701.3	+	22	3624	c.3296G>A	c.(3295-3297)aGa>aAa	p.R1099K	CCDC171_ENST00000297641.3_Missense_Mutation_p.R1099K	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1099																	ATGGAGCTGAGAAGAAAAGAT	0.463																																																	0								ENSG00000164989						84	77	79					9																	15846728		2203	4300	6503	CCDC171	SO:0001583	missense	0			-	HGNC	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.3296G>A	9.37:g.15846728G>A	ENSP00000370077:p.Arg1099Lys	Somatic	0	28	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP							superfamily_STAT_TF_coiled-coil	p.R1099K	ENST00000380701.3	37	c.3296	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.576810|4.576810	0.86645|0.86645	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575;ENST00000432954|ENST00000297641;ENST00000380689;ENST00000380701	.|T;T	.|0.68479	.|-0.33;-0.33	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.143817	.|0.64402	.|D	.|0.000007	T|T	0.67618|0.67618	0.2912|0.2912	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.58620	.|0.983;0.972;0.983	.|P;P;P	.|0.55391	.|0.775;0.6;0.775	T|T	0.63143|0.63143	-0.6703|-0.6703	5|10	.|0.25751	.|T	.|0.34	-14.892|-14.892	20.1064|20.1064	0.97896|0.97896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1107;366;1099	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	K|K	339;153|1099;366;1099	.|ENSP00000297641:R1099K;ENSP00000370077:R1099K	.|ENSP00000297641:R1099K	E|R	+|+	1|2	0|0	C9orf93|C9orf93	15836728|15836728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	6.319000|6.319000	0.72871|0.72871	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	GAA|AGA	-	NULL		0.463	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	protein_coding	OTTHUMT00000051768.4	G	NM_173550	-		15846728	1	no_errors	ENST00000380701	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15846728	G	A	15846728	3	1	196	1	0	0	0	0	1	0	0	0	2508	942	33	2	3378	2	C9orf93	9	15846728	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2650607	15846728	125366703	1167	14439											
DENND4C	55667	genome.wustl.edu	37	chr9	19347012	19347012	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgtcctgaaatctggtatGaaacaagcagcgacagtagc	11	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:19347012G>T	ENST00000380432.2	+	18	3423	c.3390G>T	c.(3388-3390)atG>atT	p.M1130I	DENND4C_ENST00000434457.2_Missense_Mutation_p.M1415I|DENND4C_ENST00000602925.1_Missense_Mutation_p.M1366I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1130					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATCTGGTATGAAACAAGCAG	0.458																																																	0								ENSG00000137145						56	56	56					9																	19347012		2203	4300	6503	DENND4C	SO:0001583	missense	0			-	HGNC	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3390G>T	9.37:g.19347012G>T	ENSP00000369797:p.Met1130Ile	Somatic	0	17	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.M1366I	ENST00000380432.2	37	c.4098		9	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596768	0.86953	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024;ENST00000380424	T;T	0.54279	0.58;0.58	5.56	5.56	0.83823	.	0.058561	0.64402	D	0.000011	T	0.71143	0.3305	M	0.66939	2.045	0.58432	D	0.999998	D;D;D;D	0.67145	0.991;0.996;0.983;0.994	D;D;D;D	0.75484	0.92;0.986;0.92;0.977	T	0.65923	-0.6050	10	0.27082	T	0.32	-11.7675	19.5261	0.95208	0.0:0.0:1.0:0.0	.	460;1130;312;1130	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	I	1130;603;312;460;603;312;127;1	ENSP00000305795:M603I;ENSP00000443804:M460I	ENSP00000305795:M603I	M	+	3	0	DENND4C	19337012	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.616000	0.88540	0.655000	0.94253	ATG	-	NULL		0.458	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	protein_coding		G	NM_017925	-		19347012	1	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19347012	G	T	19347012	3	4	196	1	0	0	0	0	1	0	0	0	4437	1290	45	3	3460	3	DENND4C	9	19347012	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3500284	19347012	121866419	1168	14440											
C9orf131	138724	genome.wustl.edu	37	chr9	35044479	35044479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatggagccagccctctggGagtcttgtctgattctcagt	12	11	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:35044479G>A	ENST00000312292.5	+	2	1900	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	C9orf131_ENST00000354479.5_Missense_Mutation_p.G545E|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.G570E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	618										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCCCTCTGGGAGTCTTGTCT	0.498																																																	0								ENSG00000174038						112	114	113					9																	35044479		2203	4300	6503	C9orf131	SO:0001583	missense	0			-	HGNC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1853G>A	9.37:g.35044479G>A	ENSP00000308279:p.Gly618Glu	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	28	34.88	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP							NULL	p.G618E	ENST00000312292.5	37	c.1853	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825085	0.32237	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.13538	2.58;2.58;2.58	4.37	4.37	0.52481	.	0.782041	0.10872	N	0.624829	T	0.26593	0.0650	L	0.44542	1.39	0.21220	N	0.999752	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.63192	0.912;0.912;0.912;0.912	T	0.09422	-1.0675	10	0.33141	T	0.24	0.1925	12.5941	0.56459	0.0:0.0:1.0:0.0	.	93;618;545;570	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	E	570;545;618;93	ENSP00000393683:G570E;ENSP00000346472:G545E;ENSP00000308279:G618E	ENSP00000308279:G618E	G	+	2	0	C9orf131	35034479	0.303000	0.24463	0.123000	0.21794	0.108000	0.19459	0.835000	0.27531	2.410000	0.81850	0.655000	0.94253	GGA	-	NULL		0.498	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	protein_coding	OTTHUMT00000052283.5	G	NM_203299	-		35044479	1	no_errors	ENST00000312292	ensembl	human	known	74_37	missense	SNP	0.275	A	A	35044479	G	A	35044479	3	1	196	1	0	0	0	0	1	0	0	0	2459	1174	41	2	1875	2	C9orf131	9	35044479	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	15697467	35044479	106168952	1169	14441											
TESK1	7016	genome.wustl.edu	37	chr9	35607352	35607352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgacgggaagatcgagGcttcaccgctgtcgtgggtg	16	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:35607352G>A	ENST00000336395.5	+	5	816	c.566G>A	c.(565-567)gGc>gAc	p.G189D	MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_Intron	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGATCGAGGCTTCACCGCT	0.542																																																	0								ENSG00000107140						153	131	139					9																	35607352		2203	4300	6503	TESK1	SO:0001583	missense	0			-	HGNC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"testis-specific kinase-1", "testis specific kinase-1"	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.566G>A	9.37:g.35607352G>A	ENSP00000338127:p.Gly189Asp	Somatic	0	56	0		0.52429534266604	23	72.62	61	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	Q8IXZ8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G189D	ENST00000336395.5	37	c.566	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025235	0.54683	.	.	ENSG00000107140	ENST00000336395	T	0.29397	1.57	5.48	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000326	T	0.20941	0.0504	N	0.16130	0.375	0.36828	D	0.886754	B	0.32968	0.392	B	0.33960	0.173	T	0.16867	-1.0388	10	0.42905	T	0.14	-5.3262	14.6521	0.68805	0.0:0.0:0.8534:0.1466	.	189	Q15569	TESK1_HUMAN	D	189	ENSP00000338127:G189D	ENSP00000338127:G189D	G	+	2	0	TESK1	35597352	1.000000	0.71417	0.957000	0.39632	0.974000	0.67602	2.180000	0.42537	1.284000	0.44531	0.561000	0.74099	GGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	protein_coding	OTTHUMT00000052314.1	G	NM_006285	-		35607352	1	no_errors	ENST00000336395	ensembl	human	known	74_37	missense	SNP	0.936	A	A	35607352	G	A	35607352	3	1	196	1	0	0	0	0	1	0	0	0	15774	1203	42	2	584	2	TESK1	9	35607352	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	562873	35607352	105606079	1170	14442											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39118222	39118222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagtgtgtgtttcattGgttcttccaacccaccagct	9	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:39118222G>A	ENST00000297668.6	-	14	2188	c.2115C>T	c.(2113-2115)acC>acT	p.T705T	CNTNAP3_ENST00000358144.2_Silent_p.T617T|CNTNAP3_ENST00000377659.1_Silent_p.T704T|CNTNAP3_ENST00000323947.7_Silent_p.T611T|CNTNAP3_ENST00000377656.2_Silent_p.T704T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	705	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGTTTCATTGGTTCTTCCAA	0.458																																																	0								ENSG00000106714						57	47	50					9																	39118222		2195	4260	6455	CNTNAP3	SO:0001819	synonymous_variant	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2115C>T	9.37:g.39118222G>A		Somatic	0	121	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	53	48.54	B1AMA0|Q9C0E9	Silent	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T705	ENST00000297668.6	37	c.2115	CCDS6616.1	9																																																																																			-	NULL		0.458	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	G	NM_033655	-		39118222	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39118222	G	A	39118222	2	1	196	1	0	0	0	0	0	0	0	1	3650	1335	47	2		2	CNTNAP3	9	39118222	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3510870	39118222	102095209	1171	14443											
PRKACG	5568	genome.wustl.edu	37	chr9	71628256	71628256	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgcaccctcccagagacGatcttctcgtagatctggat	8	14	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:71628256G>A	ENST00000377276.2	-	1	783	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> N. {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCCCAGAGACGATCTTCTCGT	0.612																																					Esophageal Squamous(110;2236 2623 32146)												0								ENSG00000165059						75	76	76					9																	71628256		2203	4300	6503	PRKACG	SO:0001819	synonymous_variant	0			-	HGNC	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.753C>T	9.37:g.71628256G>A		Somatic	0	16	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	O60850|Q5VZ02|Q86YI1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I251	ENST00000377276.2	37	c.753	CCDS6625.1	9																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	protein_coding	OTTHUMT00000052559.1	G		-		71628256	-1	no_errors	ENST00000377276	ensembl	human	known	74_37	silent	SNP	0.998	A	A	71628256	G	A	71628256	2	1	196	1	0	0	0	0	0	0	0	1	12504	1048	37	1		1	PRKACG	9	71628256	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	32510034	71628256	69585175	1172	14444											
TJP2	9414	genome.wustl.edu	37	chr9	71844120	71844120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaaccaaaagcagccCcgagaacttttcttcgtcct	5	16	2	1	rs267602261		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:71844120C>T	ENST00000377245.4	+	10	1682	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S	TJP2_ENST00000535702.1_Missense_Mutation_p.P496S|TJP2_ENST00000348208.4_Missense_Mutation_p.P492S|TJP2_ENST00000265384.7_Missense_Mutation_p.P492S|TJP2_ENST00000453658.2_Missense_Mutation_p.P469S|TJP2_ENST00000539225.1_Missense_Mutation_p.P523S	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	492					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGCAGCCCCGAGAACTTT	0.403																																																	0								ENSG00000119139						206	192	196					9																	71844120		2203	4300	6503	TJP2	SO:0001583	missense	0			-	HGNC	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1474C>T	9.37:g.71844120C>T	ENSP00000366453:p.Pro492Ser	Somatic	0	163	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	60	86	40.82	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP							pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.P523S	ENST00000377245.4	37	c.1567	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024865	0.35701	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.85;2.86;2.88	5.85	4.94	0.65067	PDZ/DHR/GLGF (1);	0.192462	0.45867	N	0.000339	T	0.07908	0.0198	N	0.21142	0.635	0.50467	D	0.999871	B;B;B;B;B	0.21452	0.01;0.009;0.006;0.056;0.035	B;B;B;B;B	0.20767	0.007;0.02;0.015;0.031;0.023	T	0.28618	-1.0038	10	0.27082	T	0.32	.	11.0386	0.47816	0.1354:0.7956:0.0:0.069	.	523;496;492;492;492	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	S	469;492;492;492;496;523	ENSP00000392178:P469S;ENSP00000366453:P492S;ENSP00000345893:P492S;ENSP00000265384:P492S;ENSP00000442090:P496S;ENSP00000438262:P523S	ENSP00000265384:P492S	P	+	1	0	TJP2	71033940	0.465000	0.25815	0.256000	0.24389	0.965000	0.64279	1.198000	0.32223	1.449000	0.47699	0.557000	0.71058	CCG	-	superfamily_PDZ		0.403	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	protein_coding	OTTHUMT00000052572.2	C	NM_201629	-		71844120	1	no_errors	ENST00000539225	ensembl	human	known	74_37	missense	SNP	0.896	T	T	71844120	C	T	71844120	3	4	196	1	0	0	0	0	1	0	0	0	15937	623	22	2	1669	2	TJP2	9	71844120	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	215864	71844120	69369311	1173	14445											
APBA1	320	genome.wustl.edu	37	chr9	72091029	72091029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcttgatgactctgcacCcaagggggaggagctgccag	15	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:72091029C>T	ENST00000265381.4	-	3	1453	c.1231G>A	c.(1231-1233)Ggt>Agt	p.G411S	RP11-470P21.2_ENST00000429567.2_RNA	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	411	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GACTCTGCACCCAAGGGGGAG	0.542																																																	0								ENSG00000107282						84	81	82					9																	72091029		2203	4300	6503	APBA1	SO:0001583	missense	0			-	HGNC	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1231G>A	9.37:g.72091029C>T	ENSP00000265381:p.Gly411Ser	Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	O14914|O60570|Q5VYR8	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.G411S	ENST00000265381.4	37	c.1231	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151936	0.78001	.	.	ENSG00000107282	ENST00000265381	T	0.04015	3.73	5.63	5.63	0.86233	.	0.056063	0.64402	D	0.000001	T	0.19685	0.0473	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01312	-1.1388	10	0.23302	T	0.38	.	19.6834	0.95972	0.0:1.0:0.0:0.0	.	411	Q02410	APBA1_HUMAN	S	411	ENSP00000265381:G411S	ENSP00000265381:G411S	G	-	1	0	APBA1	71280849	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.947000	0.70242	2.657000	0.90304	0.561000	0.74099	GGT	-	NULL		0.542	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	protein_coding	OTTHUMT00000052589.2	C	NM_001163	-		72091029	-1	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72091029	C	T	72091029	3	4	196	1	0	0	0	0	1	0	0	0	756	623	22	2	1326	2	APBA1	9	72091029	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	246909	72091029	69122402	1174	14446											
PRUNE2	158471	genome.wustl.edu	37	chr9	79321687	79321687	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaattagtctcccttcctGgggtgaggccttccaccact	8	14	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:79321687G>A	ENST00000376718.3	-	8	5626	c.5503C>T	c.(5503-5505)Cag>Tag	p.Q1835*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.Q1476*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1835					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCCTTCCTGGGGTGAGGCC	0.468																																																	0								ENSG00000106772						49	43	45					9																	79321687		1568	3582	5150	PRUNE2	SO:0001587	stop_gained	0			-	HGNC	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.5503C>T	9.37:g.79321687G>A	ENSP00000365908:p.Gln1835*	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP							pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.Q1476*	ENST00000376718.3	37	c.4426	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.694435|5.694435	0.96793|0.96793	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	T|.	0.42131|.	0.98|.	5.89|5.89	3.03|3.03	0.35002|0.35002	.|.	.|0.269276	.|0.26241	.|N	.|0.025508	T|.	0.20129|.	0.0484|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15435|.	-1.0437|.	6|.	0.26408|0.19147	T|T	0.33|0.46	-2.0758|-2.0758	3.7421|3.7421	0.08534|0.08534	0.1494:0.1315:0.5834:0.1358|0.1494:0.1315:0.5834:0.1358	.|.	.|.	.|.	.|.	L|X	1156|1835;1476;1834	ENSP00000389706:P1156L|.	ENSP00000389706:P1156L|ENSP00000365908:Q1835X	P|Q	-|-	2|1	0|0	PRUNE2|PRUNE2	78511507|78511507	0.009000|0.009000	0.17119|0.17119	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	1.725000|1.725000	0.38074|0.38074	0.387000|0.387000	0.25024|0.25024	-0.310000|-0.310000	0.09108|0.09108	CCA|CAG	-	NULL		0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	G	NM_138818	-		79321687	-1	no_errors	ENST00000428286	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	79321687	G	A	79321687	4	1	196	1	0	0	0	0	0	1	0	0	12646	1357	47	2	3811	2	PRUNE2	9	79321687	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7230658	79321687	61891744	1175	14447											
CEP78	84131	genome.wustl.edu	37	chr9	80861674	80861674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacaactctggtcgttctgGatataagaaaaaatccactc	6	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:80861674G>A	ENST00000424347.2	+	6	1157	c.868G>A	c.(868-870)Gat>Aat	p.D290N	CEP78_ENST00000415759.2_Missense_Mutation_p.D290N|CEP78_ENST00000376598.2_Missense_Mutation_p.D290N|CEP78_ENST00000277082.5_Missense_Mutation_p.D290N|CEP78_ENST00000376597.4_Missense_Mutation_p.D290N			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	290					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GGTCGTTCTGGATATAAGAAA	0.383																																																	0								ENSG00000148019						82	80	81					9																	80861674		1823	4080	5903	CEP78	SO:0001583	missense	0			-	HGNC	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.868G>A	9.37:g.80861674G>A	ENSP00000411284:p.Asp290Asn	Somatic	0	56	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	58	10.77	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D290N	ENST00000424347.2	37	c.868		9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975017	0.92919	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.75	5.75	0.90469	.	0.143108	0.42682	D	0.000666	T	0.73202	0.3557	M	0.71036	2.16	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.941;0.974;0.985	T	0.74760	-0.3556	10	0.72032	D	0.01	-24.8007	18.5229	0.90960	0.0:0.0:1.0:0.0	.	203;290;290;290	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	N	290	ENSP00000411284:D290N;ENSP00000399286:D290N;ENSP00000365782:D290N;ENSP00000277082:D290N;ENSP00000365783:D290N	ENSP00000277082:D290N	D	+	1	0	CEP78	80051494	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.988000	0.93501	2.696000	0.92011	0.655000	0.94253	GAT	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.383	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	protein_coding	OTTHUMT00000052766.2	G	XM_095991	-		80861674	1	no_errors	ENST00000376597	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80861674	G	A	80861674	3	1	196	1	0	0	0	0	1	0	0	0	3264	1174	41	2	890	2	CEP78	9	80861674	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1539987	80861674	60351757	1176	14448											
FLJ46321	389763	genome.wustl.edu	37	chr9	84606073	84606073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagcctgtttctcccttgGattccaagttccccatagac	6	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:84606073G>A	ENST00000344803.2	+	4	735	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	230	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTCCCTTGGATTCCAAGTT	0.537																																																	0								ENSG00000214929						124	116	118					9																	84606073		1820	4049	5869	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.688G>A	9.37:g.84606073G>A	ENSP00000341988:p.Asp230Asn	Somatic	0	103	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	71	36.61		Missense_Mutation	SNP							NULL	p.D230N	ENST00000344803.2	37	c.688	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	6.868	0.529609	0.13127	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	2.79	-0.266	0.12942	.	2.269140	0.01913	N	0.039992	T	0.07548	0.0190	L	0.32530	0.975	0.09310	N	1	D	0.57571	0.98	P	0.51806	0.68	T	0.28332	-1.0047	10	0.26408	T	0.33	-0.6165	5.0105	0.14310	0.1306:0.4236:0.4458:0.0	.	230	Q6ZQQ2	F75D1_HUMAN	N	230	ENSP00000341988:D230N	ENSP00000341988:D230N	D	+	1	0	FAM75D1	83795893	0.011000	0.17503	0.001000	0.08648	0.017000	0.09413	0.388000	0.20735	-0.041000	0.13558	-0.155000	0.13514	GAT	-	NULL		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	G	NM_001001670	-		84606073	1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.002	A	A	84606073	G	A	84606073	3	1	196	1	0	0	0	0	1	0	0	0	5934	1174	41	2	702	2	FLJ46321	9	84606073	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3744399	84606073	56607358	1177	14449											
HNRNPK	3190	genome.wustl.edu	37	chr9	86593139	86593139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggtttcagtgttagggAaggtttcttctggctgttca	12	6	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:86593139A>G	ENST00000376264.2	-	3	287	c.29T>C	c.(28-30)tTc>tCc	p.F10S	HNRNPK_ENST00000351839.3_Missense_Mutation_p.F10S|RP11-575L7.8_ENST00000448389.1_RNA|RMI1_ENST00000325875.3_5'Flank|HNRNPK_ENST00000360384.5_Missense_Mutation_p.F10S|HNRNPK_ENST00000376263.3_Missense_Mutation_p.F10S|HNRNPK_ENST00000376281.4_Missense_Mutation_p.F10S	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	10	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						AGTGTTAGGGAAGGTTTCTTC	0.323																																																	0								ENSG00000165119						85	86	86					9																	86593139		2203	4300	6503	HNRNPK	SO:0001583	missense	0			-	HGNC		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.29T>C	9.37:g.86593139A>G	ENSP00000365440:p.Phe10Ser	Somatic	0	73	0		0.52429534266604	242	21.94	68	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	62	16.22	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.F10S	ENST00000376264.2	37	c.29	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548971	0.86127	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.57107	0.43;0.42;0.43;0.42;0.42	5.03	5.03	0.67393	ROK, N-terminal (1);	0.242810	0.44285	D	0.000478	T	0.61640	0.2363	L	0.36672	1.1	0.51482	D	0.999929	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.996;0.997;0.997;0.999;0.994;0.998;0.999	T	0.56968	-0.7891	10	0.22706	T	0.39	-2.5022	15.0437	0.71811	1.0:0.0:0.0:0.0	.	10;10;10;10;10;10;10;10	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	S	10	ENSP00000365458:F10S;ENSP00000365440:F10S;ENSP00000365439:F10S;ENSP00000317788:F10S;ENSP00000353552:F10S	ENSP00000317788:F10S	F	-	2	0	HNRNPK	85782959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.550000	0.82173	2.007000	0.58848	0.533000	0.62120	TTC	-	pfam_ROK_N		0.323	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	protein_coding	OTTHUMT00000052846.2	A		-		86593139	-1	no_errors	ENST00000376263	ensembl	human	known	74_37	missense	SNP	1.000	G	G	86593139	A	G	86593139	3	3	196	1	0	0	0	0	1	0	0	0	7271	246	9	5	1460	5	HNRNPK	9	86593139	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1987066	86593139	54620292	1178	14450											
NTRK2	4915	genome.wustl.edu	37	chr9	87342577	87342577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaatttagttgcaccaActatcacatttctcgaatct	3	10	4	0	rs140359847		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:87342577A>G	ENST00000323115.4	+	8	1215	c.862A>G	c.(862-864)Act>Gct	p.T288A	NTRK2_ENST00000359847.3_Missense_Mutation_p.T288A|NTRK2_ENST00000304053.6_Missense_Mutation_p.T288A|NTRK2_ENST00000376208.1_Missense_Mutation_p.T288A|NTRK2_ENST00000395882.1_Missense_Mutation_p.T288A|NTRK2_ENST00000277120.3_Missense_Mutation_p.T288A|NTRK2_ENST00000395866.2_Missense_Mutation_p.T132A|NTRK2_ENST00000376213.1_Missense_Mutation_p.T288A|NTRK2_ENST00000376214.1_Missense_Mutation_p.T288A			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	288					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AGTTGCACCAACTATCACATT	0.433										TSP Lung(25;0.17)																																							0								ENSG00000148053	A	ALA/THR,ALA/THR,ALA/THR,ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	63	62	62		862,862,862,862,862	6	1	9	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	58,58,58,58,58	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	288/478,288/823,288/554,288/538,288/839	87342577	1,13005	2203	4300	6503	NTRK2	SO:0001583	missense	0			-	HGNC	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.862A>G	9.37:g.87342577A>G	ENSP00000314586:p.Thr288Ala	Somatic	0	46	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	30	45.45	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.T288A	ENST00000323115.4	37	c.862	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	A	5.758	0.324282	0.10900	2.27E-4	0.0	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	6.01	6.01	0.97437	.	0.104814	0.64402	D	0.000004	T	0.45875	0.1364	L	0.28400	0.85	0.30986	N	0.721962	B;B;B;B;B;B;B	0.28178	0.002;0.018;0.018;0.001;0.06;0.202;0.007	B;B;B;B;B;B;B	0.38755	0.003;0.035;0.035;0.004;0.094;0.281;0.007	T	0.53165	-0.8477	10	0.30854	T	0.27	.	10.796	0.46461	0.9297:0.0:0.0703:0.0	.	132;288;288;288;288;288;334	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1	.;.;.;.;NTRK2_HUMAN;.;.	A	288;288;288;288;288;288;288;288;132	ENSP00000365387:T288A;ENSP00000365386:T288A;ENSP00000379221:T288A;ENSP00000365381:T288A;ENSP00000306167:T288A;ENSP00000277120:T288A;ENSP00000314586:T288A;ENSP00000352906:T288A;ENSP00000379207:T132A	ENSP00000277120:T288A	T	+	1	0	NTRK2	86532397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.154000	0.58125	2.302000	0.77476	0.477000	0.44152	ACT	-	prints_Tyr_kin_neurotrophic_rcpt_2		0.433	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	A		rs140359847		87342577	1	no_errors	ENST00000277120	ensembl	human	known	74_37	missense	SNP	1.000	G	G	87342577	A	G	87342577	3	3	196	1	0	0	0	0	1	0	0	0	10709	43	2	5	892	5	NTRK2	9	87342577	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	749438	87342577	53870854	1179	14451											
AGTPBP1	23287	genome.wustl.edu	37	chr9	88204543	88204543	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttcacataacacatctttCcgaaaatagatttgctgagg	7	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:88204543C>T	ENST00000357081.3	-	20	2766	c.2622G>A	c.(2620-2622)cgG>cgA	p.R874R	AGTPBP1_ENST00000376109.3_Silent_p.R886R|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.R834R|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	874					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ACACATCTTTCCGAAAATAGA	0.348																																																	0								ENSG00000135049						104	99	101					9																	88204543		2203	4299	6502	AGTPBP1	SO:0001819	synonymous_variant	0			-	HGNC	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2622G>A	9.37:g.88204543C>T		Somatic	0	103	0		0.52429534266604	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	64	37.86	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP							pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R886	ENST00000357081.3	37	c.2658		9																																																																																			-	pfam_Peptidase_M14		0.348	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	protein_coding	OTTHUMT00000052893.1	C	NM_015239	-		88204543	-1	no_errors	ENST00000376109	ensembl	human	known	74_37	silent	SNP	0.951	T	T	88204543	C	T	88204543	2	4	196	1	0	0	0	0	0	0	0	1	400	842	30	2		2	AGTPBP1	9	88204543	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	861966	88204543	53008888	1180	14452											
DAPK1	1612	genome.wustl.edu	37	chr9	90321074	90321074	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatgcaaagtgaaacagttCaggacgtgctgctcctggac	11	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:90321074C>T	ENST00000408954.3	+	26	3423	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	DAPK1_ENST00000472284.1_Nonsense_Mutation_p.Q1030*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.Q1055*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.Q1030*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.Q964*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1030					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGAAACAGTTCAGGACGTGCT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								ENSG00000196730						60	64	63					9																	90321074		2068	4204	6272	DAPK1	SO:0001587	stop_gained	0	Familial Cancer Database	Familial CLL	-	HGNC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3088C>T	9.37:g.90321074C>T	ENSP00000386135:p.Gln1030*	Somatic	0	28	0		0.52429534266604	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.Q1055*	ENST00000408954.3	37	c.3163	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.597738	0.99216	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.62	4.73	0.59995	.	0.000000	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.6356	0.68686	0.0:0.9301:0.0:0.0699	.	.	.	.	X	1030;1030;1055;1030;964	.	ENSP00000350785:Q1030X	Q	+	1	0	DAPK1	89510894	1.000000	0.71417	0.969000	0.41365	0.895000	0.52256	5.898000	0.69838	1.385000	0.46445	0.655000	0.94253	CAG	-	NULL		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	C	NM_004938	-		90321074	1	no_errors	ENST00000469640	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	90321074	C	T	90321074	4	4	196	1	0	0	0	0	0	1	0	0	4237	827	29	2	3186	2	DAPK1	9	90321074	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2116531	90321074	50892357	1181	14453											
SPTLC1	10558	genome.wustl.edu	37	chr9	94871067	94871067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggtcttttgggacaGgaggaacaagaggttctggt	16	5	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:94871067G>A	ENST00000262554.2	-	3	220	c.215C>T	c.(214-216)cCt>cTt	p.P72L	SPTLC1_ENST00000337841.4_Missense_Mutation_p.P72L|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	72					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)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTTTGGGACAGGAGGAACAAG	0.383																																																	0								ENSG00000090054						25	29	28					9																	94871067		2196	4275	6471	SPTLC1	SO:0001583	missense	0			-	HGNC	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.215C>T	9.37:g.94871067G>A	ENSP00000262554:p.Pro72Leu	Somatic	0	66	0		0.52429534266604	10	61.54	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	41	41.43	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.P72L	ENST00000262554.2	37	c.215	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040833	0.19669	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	T;T	0.67698	-0.28;-0.28	4.85	2.87	0.33458	Pyridoxal phosphate-dependent transferase, major domain (1);	0.052927	0.85682	N	0.000000	T	0.62672	0.2447	M	0.69523	2.12	0.80722	D	1	B;B;B;B	0.18610	0.029;0.007;0.002;0.029	B;B;B;B	0.24269	0.035;0.011;0.008;0.052	T	0.62139	-0.6917	10	0.46703	T	0.11	-16.1976	8.6302	0.33915	0.0832:0.0:0.7665:0.1503	.	72;72;67;72	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	L	72	ENSP00000262554:P72L;ENSP00000337635:P72L	ENSP00000262554:P72L	P	-	2	0	SPTLC1	93910888	0.991000	0.36638	0.955000	0.39395	0.362000	0.29581	1.634000	0.37123	1.179000	0.42884	-0.232000	0.12228	CCT	-	superfamily_PyrdxlP-dep_Trfase		0.383	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	protein_coding	OTTHUMT00000055553.1	G	NM_006415	-		94871067	-1	no_errors	ENST00000262554	ensembl	human	known	74_37	missense	SNP	0.991	A	A	94871067	G	A	94871067	3	1	196	1	0	0	0	0	1	0	0	0	15130	1000	35	2	1267	2	SPTLC1	9	94871067	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4549993	94871067	46342364	1182	14454											
FGD3	89846	genome.wustl.edu	37	chr9	95797779	95797779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgcagcagcagtggctgGaaaccctaagcactgctgcc	12	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:95797779G>A	ENST00000375482.3	+	18	2582	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	FGD3_ENST00000538555.1_Missense_Mutation_p.E299K|FGD3_ENST00000416701.2_Missense_Mutation_p.E695K|FGD3_ENST00000337352.6_Missense_Mutation_p.E696K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	696	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCAGTGGCTGGAAACCCTAAG	0.662																																																	0								ENSG00000127084						31	39	36					9																	95797779		2156	4244	6400	FGD3	SO:0001583	missense	0			-	HGNC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.2086G>A	9.37:g.95797779G>A	ENSP00000364631:p.Glu696Lys	Somatic	0	40	0		0.52429534266604	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E696K	ENST00000375482.3	37	c.2086	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.963975	0.02249	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71817	-0.49;-0.49;-0.49;-0.6	4.52	1.45	0.22620	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.665976	0.12414	N	0.471007	T	0.50973	0.1647	L	0.31578	0.945	0.23082	N	0.998329	B;B	0.25272	0.122;0.001	B;B	0.27608	0.081;0.005	T	0.37526	-0.9702	10	0.02654	T	1	.	7.3066	0.26451	0.094:0.3209:0.5851:0.0	.	695;696	F8W7P2;Q5JSP0	.;FGD3_HUMAN	K	696;695;696;299	ENSP00000364631:E696K;ENSP00000413833:E695K;ENSP00000336914:E696K;ENSP00000442560:E299K	ENSP00000336914:E696K	E	+	1	0	FGD3	94837600	0.775000	0.28604	0.402000	0.26371	0.173000	0.22820	0.288000	0.18939	0.182000	0.20032	0.561000	0.74099	GAA	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	protein_coding	OTTHUMT00000055493.1	G	NM_033086	-		95797779	1	no_errors	ENST00000337352	ensembl	human	known	74_37	missense	SNP	0.621	A	A	95797779	G	A	95797779	3	1	196	1	0	0	0	0	1	0	0	0	5836	1175	41	2	2148	2	FGD3	9	95797779	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	926712	95797779	45415652	1183	14455											
WNK2	65268	genome.wustl.edu	37	chr9	96021237	96021237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgattcctgttgtgcccCccatcacgcccctggcggga	10	19	1	0	rs149576658		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:96021237C>T	ENST00000297954.4	+	11	2407	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	WNK2_ENST00000395475.2_Missense_Mutation_p.P737S|WNK2_ENST00000427277.2_Missense_Mutation_p.P415S|WNK2_ENST00000395477.2_Missense_Mutation_p.P803S|WNK2_ENST00000349097.3_Missense_Mutation_p.P415S|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	803					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTTGTGCCCCCCATCACGCC	0.647																																																	0								ENSG00000165238						34	37	36					9																	96021237		2203	4299	6502	WNK2	SO:0001583	missense	0			-	HGNC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2407C>T	9.37:g.96021237C>T	ENSP00000297954:p.Pro803Ser	Somatic	0	82	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	65	38.68	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P803S	ENST00000297954.4	37	c.2407		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808010|2.808010	0.50421|0.50421	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277	T|T;T;T;T;T;T	0.60797|0.71817	0.16|-0.6;-0.4;-0.35;-0.6;0.2;0.25	5.01|5.01	4.05|4.05	0.47172|0.47172	.|.	0.291814|0.291814	0.32134|0.32134	N|N	0.006531|0.006531	T|T	0.64023|0.64023	0.2561|0.2561	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;P;D;P;P	.|0.59767	.|0.908;0.775;0.986;0.908;0.851	.|B;B;P;B;B	.|0.49799	.|0.436;0.306;0.622;0.436;0.253	T|T	0.61451|0.61451	-0.7060|-0.7060	8|10	0.49607|0.28530	T|T	0.09|0.3	.|.	12.5041|12.5041	0.55972|0.55972	0.0:0.6202:0.3798:0.0|0.0:0.6202:0.3798:0.0	.|.	.|803;803;406;803;803	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	L|S	406|751;803;803;737;415;415	ENSP00000414622:P406L|ENSP00000412465:P751S;ENSP00000297954:P803S;ENSP00000378860:P803S;ENSP00000378858:P737S;ENSP00000297876:P415S;ENSP00000411181:P415S	ENSP00000414622:P406L|ENSP00000297954:P803S	P|P	+|+	2|1	0|0	WNK2|WNK2	95061058|95061058	0.993000|0.993000	0.37304|0.37304	0.583000|0.583000	0.28640|0.28640	0.791000|0.791000	0.44710|0.44710	1.143000|1.143000	0.31553|0.31553	2.309000|2.309000	0.77851|0.77851	0.462000|0.462000	0.41574|0.41574	CCC|CCC	-	NULL		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	C	NM_006648	-		96021237	1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96021237	C	T	96021237	3	4	196	1	0	0	0	0	1	0	0	0	17385	623	22	2	2449	2	WNK2	9	96021237	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	223458	96021237	45192194	1184	14456											
FAM120A	23196	genome.wustl.edu	37	chr9	96318681	96318681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgagaacctagatccCcgaggaattcagctatcagc	9	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:96318681C>T	ENST00000277165.6	+	13	2486	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	FAM120A_ENST00000333936.5_Silent_p.P792P|FAM120A_ENST00000340893.4_Silent_p.P764P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	764						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCTAGATCCCCGAGGAATTC	0.393																																																	0								ENSG00000048828						109	114	112					9																	96318681		2203	4300	6503	FAM120A	SO:0001819	synonymous_variant	0			-	HGNC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2292C>T	9.37:g.96318681C>T		Somatic	0	85	0		0.52429534266604	20	28.57	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	55	23.61	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP							NULL	p.P792	ENST00000277165.6	37	c.2376	CCDS6706.1	9																																																																																			-	NULL		0.393	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	protein_coding	OTTHUMT00000053160.2	C	NM_014612	-		96318681	1	no_errors	ENST00000333936	ensembl	human	known	74_37	silent	SNP	1.000	T	T	96318681	C	T	96318681	2	4	196	1	0	0	0	0	0	0	0	1	5417	610	22	2		2	FAM120A	9	96318681	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	297444	96318681	44894750	1185	14457											
BARX1	56033	genome.wustl.edu	37	chr9	96715201	96715201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccggcgtggaaaggtacttCtgcttctcgaagcgtttctc	11	11	3	0	rs142710643		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:96715201C>T	ENST00000253968.6	-	2	717	c.492G>A	c.(490-492)caG>caA	p.Q164Q	RP11-231K24.2_ENST00000453045.1_lincRNA|BARX1_ENST00000401724.1_Silent_p.Q10Q	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	164					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						AAAGGTACTTCTGCTTCTCGA	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		18931	0		0	False		,,,				2504	0																0								ENSG00000131668	C		4,4396		0,4,2196	67	42	50		492	4	1	9	dbSNP_134	50	0,8596		0,0,4298	no	coding-synonymous	BARX1	NM_021570.3		0,4,6494	TT,TC,CC		0.0,0.0909,0.0308		164/255	96715201	4,12992	2200	4298	6498	BARX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"Homeoboxes / ANTP class : NKL subclass"	955	protein-coding gene	gene with protein product		603260	"BarH-like homeobox 1"				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.492G>A	9.37:g.96715201C>T		Somatic	0	14	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	Q6P2R4|Q96GH8	Silent	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.Q164	ENST00000253968.6	37	c.492	CCDS35070.2	9																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.642	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX1	protein_coding	OTTHUMT00000053164.4	C		rs142710643		96715201	-1	no_errors	ENST00000253968	ensembl	human	known	74_37	silent	SNP	1.000	T	T	96715201	C	T	96715201	2	4	196	1	0	0	0	0	0	0	0	1	1315	912	32	2		2	BARX1	9	96715201	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	396520	96715201	44498230	1186	14458											
C9orf102	375748	genome.wustl.edu	37	chr9	98718251	98718251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttaggctgatatccttgGgaactgtggaggaaatcatg	13	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:98718251G>A	ENST00000288985.7	+	13	2241	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.G457R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	646	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GATATCCTTGGGAACTGTGGA	0.338																																																	0								ENSG00000182150						151	144	146					9																	98718251		2203	4299	6502	ERCC6L2	SO:0001583	missense	0			-	HGNC	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1936G>A	9.37:g.98718251G>A	ENSP00000288985:p.Gly646Arg	Somatic	0	126	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	105	13.82	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G457R	ENST00000288985.7	37	c.1369	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544860	0.86022	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	T;T	0.78126	-1.15;-1.15	4.97	4.97	0.65823	Helicase, C-terminal (1);	0.000000	0.48767	D	0.000179	D	0.90242	0.6949	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91958	0.5576	10	0.87932	D	0	-21.9053	17.529	0.87808	0.0:0.0:1.0:0.0	.	457;646	Q5T890-2;Q5T890	.;RAD26_HUMAN	R	646;457	ENSP00000288985:G646R;ENSP00000416286:G457R	ENSP00000288985:G646R	G	+	1	0	C9orf102	97758072	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.166000	0.89665	2.732000	0.93576	0.650000	0.86243	GGA	-	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C		0.338	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	protein_coding	OTTHUMT00000053247.2	G	NM_001010895	-		98718251	1	no_errors	ENST00000437817	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98718251	G	A	98718251	3	1	196	1	0	0	0	0	1	0	0	0	2447	1233	43	2	1986	2	C9orf102	9	98718251	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2003050	98718251	42495180	1187	14459											
SEC61B	10952	genome.wustl.edu	37	chr9	101992687	101992687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttatgttgcacatttgggGcaagtacactcgttcgtaga	10	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:101992687G>A	ENST00000223641.4	+	4	335	c.272G>A	c.(271-273)gGc>gAc	p.G91D	SEC61B_ENST00000498603.1_Missense_Mutation_p.G37D	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	91					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)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CACATTTGGGGCAAGTACACT	0.393																																																	0								ENSG00000106803						273	250	258					9																	101992687		2203	4299	6502	SEC61B	SO:0001583	missense	0			-	HGNC	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.272G>A	9.37:g.101992687G>A	ENSP00000223641:p.Gly91Asp	Somatic	0	61	0		0.52429534266604	728	39.44	476	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	60	36.17	P38390|P38391|Q6IBC1	Missense_Mutation	SNP							pfam_SecG/Sec61-beta/Sbh1,pirsf_SecG/Sec61-beta/Sbh1	p.G91D	ENST00000223641.4	37	c.272	CCDS6741.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.258844	0.95368	.	.	ENSG00000106803	ENST00000223641	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84946	0.0868	8	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	91	P60468	SC61B_HUMAN	D	91	.	ENSP00000223641:G91D	G	+	2	0	SEC61B	101032508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.242000	0.95408	2.767000	0.95098	0.650000	0.86243	GGC	-	pfam_SecG/Sec61-beta/Sbh1,pirsf_SecG/Sec61-beta/Sbh1		0.393	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61B	protein_coding	OTTHUMT00000053391.1	G	NM_006808	-		101992687	1	no_errors	ENST00000223641	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101992687	G	A	101992687	3	1	196	1	0	0	0	0	1	0	0	0	14010	1203	42	2	286	2	SEC61B	9	101992687	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3274436	101992687	39220744	1188	14460											
MURC	347273	genome.wustl.edu	37	chr9	103348406	103348406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtcaggggagaggtttaaGaaatctatttctaatgcagc	11	6	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:103348406G>A	ENST00000307584.5	+	2	833	c.768G>A	c.(766-768)aaG>aaA	p.K256K		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	256					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGAGGTTTAAGAAATCTATTT	0.517																																																	0								ENSG00000170681						92	100	97					9																	103348406		2203	4300	6503	MURC	SO:0001819	synonymous_variant	0			-	HGNC	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.768G>A	9.37:g.103348406G>A		Somatic	0	58	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	72	32.41	B1PRL3|B4DT88	Silent	SNP							NULL	p.K256	ENST00000307584.5	37	c.768	CCDS35083.1	9																																																																																			-	NULL		0.517	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	protein_coding	OTTHUMT00000053419.2	G	NM_001018116	-		103348406	1	no_errors	ENST00000307584	ensembl	human	known	74_37	silent	SNP	1.000	A	A	103348406	G	A	103348406	2	1	196	1	0	0	0	0	0	0	0	1	9989	933	33	2		2	MURC	9	103348406	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1355719	103348406	37865025	1189	14461											
ALDOB	229	genome.wustl.edu	37	chr9	104190751	104190751	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgggcaatatccttacCttgaatggtggtttctttgt	10	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:104190751C>G	ENST00000374855.4	-	4	503	c.379G>C	c.(379-381)Ggg>Cgg	p.G127R	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	127					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATATCCTTACCTTGAATGGTG	0.398																																																	0								ENSG00000136872						278	237	251					9																	104190751		2203	4300	6503	ALDOB	SO:0001630	splice_region_variant	0			-	HGNC	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.379+1G>C	9.37:g.104190751C>G		Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP							pfam_Aldolase_I	p.G127R	ENST00000374855.4	37	c.379	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.082347	0.94050	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.90563	-2.69	5.87	5.87	0.94306	Aldolase-type TIM barrel (1);	0.044906	0.85682	D	0.000000	D	0.97155	0.9070	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97859	1.0279	9	.	.	.	-9.394	19.1987	0.93701	0.0:1.0:0.0:0.0	.	127	P05062	ALDOB_HUMAN	R	127;54;127	ENSP00000363988:G127R	.	G	-	1	0	ALDOB	103230572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	GGG	-	pfam_Aldolase_I		0.398	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	protein_coding	OTTHUMT00000053434.2	C		-	Missense_Mutation	104190751	-1	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104190751	C	G	104190751	5	3	196	1	0	0	0	0	0	0	1	0	508	695	24	4	739	4	ALDOB	9	104190751	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	842345	104190751	37022680	1190	14462											
OR13C3	138803	genome.wustl.edu	37	chr9	107299036	107299036	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaggaaatcaaaagaagatCtaacatgaaatgtatttact	6	5	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:107299036C>T	ENST00000374781.2	-	1	101	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AAAAGAAGATCTAACATGAAA	0.358																																					GBM(86;1248 1274 14222 15028 46219)												0								ENSG00000204246						66	65	65					9																	107299036		2203	4300	6503	OR13C3	SO:0001583	missense	0			-	HGNC		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.59G>A	9.37:g.107299036C>T	ENSP00000363913:p.Arg20Lys	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	Q5VVG1|Q6IF52	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20K	ENST00000374781.2	37	c.59	CCDS35089.1	9	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992905	0.35131	.	.	ENSG00000204246	ENST00000374781	T	0.07567	3.18	5.09	-6.55	0.01854	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	9	0.16420	T	0.52	.	0.8799	0.01232	0.1875:0.2645:0.2781:0.2698	.	20	Q8NGS6	O13C3_HUMAN	K	20	ENSP00000363913:R20K	ENSP00000363913:R20K	R	-	2	0	OR13C3	106338857	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.472000	0.00989	-0.870000	0.04047	0.655000	0.94253	AGA	-	NULL		0.358	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	protein_coding	OTTHUMT00000053477.2	C		-		107299036	-1	no_errors	ENST00000374781	ensembl	human	known	74_37	missense	SNP	0.000	T	T	107299036	C	T	107299036	3	4	196	1	0	0	0	0	1	0	0	0	10937	913	32	2	988	2	OR13C3	9	107299036	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3108285	107299036	33914395	1191	14463											
ZNF462	58499	genome.wustl.edu	37	chr9	109701298	109701298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaaaagccctgaccctcCccaggccacggatcgtcagt	10	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:109701298C>T	ENST00000277225.5	+	7	6626	c.6337C>T	c.(6337-6339)Ccc>Tcc	p.P2113S	ZNF462_ENST00000457913.1_Missense_Mutation_p.P2173S|ZNF462_ENST00000542028.1_Missense_Mutation_p.P70S|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1019S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2113					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)			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						CCTGACCCTCCCCAGGCCACG	0.542																																																	0								ENSG00000148143						239	229	232					9																	109701298		2203	4300	6503	ZNF462	SO:0001583	missense	0			-	HGNC	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.6337C>T	9.37:g.109701298C>T	ENSP00000277225:p.Pro2113Ser	Somatic	0	55	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	59	23.38	Q5T0T4|Q8N408	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P2173S	ENST00000277225.5	37	c.6517	CCDS35096.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.147447|5.147447	0.94603|0.94603	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000427098|ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.|T;T;T;T;T	.|0.15952	.|3.43;3.94;4.0;4.0;2.38	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.157463|0.157463	0.48767|0.48767	D|D	0.000161|0.000161	T|T	0.25494|0.25494	0.0620|0.0620	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.61697	.|0.99;0.958;0.958	.|P;P;P	.|0.59288	.|0.855;0.681;0.549	T|T	0.01961|0.01961	-1.1239|-1.1239	6|10	.|0.21014	.|T	.|0.42	.|.	19.8603|19.8603	0.96781|0.96781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2173;14;2113	.|Q96JM2-3;Q5T0T2;Q96JM2	.|.;.;ZN462_HUMAN	L|S	14|2113;2173;1056;1019;70	.|ENSP00000277225:P2113S;ENSP00000414570:P2173S;ENSP00000363818:P1056S;ENSP00000397306:P1019S;ENSP00000439771:P70S	.|ENSP00000277225:P2113S	P|P	+|+	2|1	0|0	ZNF462|ZNF462	108741119|108741119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.636000|5.636000	0.67848|0.67848	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	CCC|CCC	-	NULL		0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	C	NM_021224	-		109701298	1	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109701298	C	T	109701298	3	4	196	1	0	0	0	0	1	0	0	0	17933	623	22	2	6359	2	ZNF462	9	109701298	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2402262	109701298	31512133	1192	14464											
IKBKAP	8518	genome.wustl.edu	37	chr9	111655349	111655349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaagtttaagcattctgGgaagtactcaggtcctgcag	10	8	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:111655349G>A	ENST00000374647.5	-	27	3182	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.P610S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	959					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCATTCTGGGAAGTACTCA	0.373																																																	0								ENSG00000070061						79	80	80					9																	111655349		2203	4300	6503	IKBKAP	SO:0001583	missense	0			-	HGNC	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2875C>T	9.37:g.111655349G>A	ENSP00000363779:p.Pro959Ser	Somatic	0	44	0		0.52429534266604	22	12	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	39	33.90	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP							pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P959S	ENST00000374647.5	37	c.2875	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	8.843	0.942651	0.18281	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.25250	2.19;1.81	5.56	-0.826	0.10805	.	0.475237	0.22600	N	0.057970	T	0.09598	0.0236	N	0.12569	0.235	0.24786	N	0.99279	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.13470	T	0.59	1.0E-4	4.3839	0.11307	0.4254:0.0:0.4197:0.1549	.	959	O95163	ELP1_HUMAN	S	959;610	ENSP00000363779:P959S;ENSP00000439367:P610S	ENSP00000363779:P959S	P	-	1	0	IKBKAP	110695170	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	0.751000	0.26348	-0.196000	0.10366	0.585000	0.79938	CCA	-	pirsf_IKI3		0.373	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	protein_coding	OTTHUMT00000053574.1	G		-		111655349	-1	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	SNP	0.987	A	A	111655349	G	A	111655349	3	1	196	1	0	0	0	0	1	0	0	0	7612	1232	43	2	1167	2	IKBKAP	9	111655349	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1954051	111655349	29558082	1193	14465											
C9orf5	23731	genome.wustl.edu	37	chr9	111881966	111881966	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgcaggaaggcctccagGatgaagtagaccagcaccgc	14	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:111881966G>A	ENST00000374586.3	-	1	259	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	76						integral component of membrane (GO:0016021)											AGGCCTCCAGGATGAAGTAGA	0.662																																																	0								ENSG00000106771						9	18	15					9																	111881966		2023	4155	6178	TMEM245	SO:0001819	synonymous_variant	0			-	HGNC	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.228C>T	9.37:g.111881966G>A		Somatic	0	12	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP							pfam_UPF0118	p.I76	ENST00000374586.3	37	c.228	CCDS43858.1	9																																																																																			-	NULL		0.662	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM245	protein_coding	OTTHUMT00000053587.2	G	NM_032012	-		111881966	-1	no_errors	ENST00000374586	ensembl	human	known	74_37	silent	SNP	1.000	A	A	111881966	G	A	111881966	2	1	196	1	0	0	0	0	0	0	0	1	2488	1164	41	2		2	C9orf5	9	111881966	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	226617	111881966	29331465	1194	14466											
EPB41L4B	54566	genome.wustl.edu	37	chr9	111954565	111954565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggaagtttaccagaggaGtggcttctgtgaaatccatc	11	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:111954565G>A	ENST00000374566.3	-	22	2811	c.2294C>T	c.(2293-2295)aCt>aTt	p.T765I		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	765					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCAGAGGAGTGGCTTCTGT	0.512																																																	0								ENSG00000095203						101	101	101					9																	111954565		1872	4104	5976	EPB41L4B	SO:0001583	missense	0			-	HGNC	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2294C>T	9.37:g.111954565G>A	ENSP00000363694:p.Thr765Ile	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	62	36.08	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP							pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.T765I	ENST00000374566.3	37	c.2294	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227693	0.79576	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.88896	-2.44	5.18	5.18	0.71444	.	0.000000	0.36932	N	0.002324	D	0.92760	0.7698	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.93443	0.6795	10	0.87932	D	0	.	15.6046	0.76652	0.0:0.0:1.0:0.0	.	765	Q9H329	E41LB_HUMAN	I	450;765	ENSP00000363694:T765I	ENSP00000262536:T450I	T	-	2	0	EPB41L4B	110994386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.406000	0.81754	0.561000	0.74099	ACT	-	NULL		0.512	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	protein_coding	OTTHUMT00000053592.1	G	NM_018424	-		111954565	-1	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111954565	G	A	111954565	3	1	196	1	0	0	0	0	1	0	0	0	5158	1029	36	2	428	2	EPB41L4B	9	111954565	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	72599	111954565	29258866	1195	14467											
SVEP1	79987	genome.wustl.edu	37	chr9	113171131	113171131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggattcactgtgccagTggcgattggcttggcagaca	16	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113171131T>C	ENST00000401783.2	-	38	7085	c.6749A>G	c.(6748-6750)cAc>cGc	p.H2250R	SVEP1_ENST00000297826.5_Missense_Mutation_p.H176R|SVEP1_ENST00000374469.1_Missense_Mutation_p.H2227R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2250	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGTGCCAGTGGCGATTGGC	0.493																																																	0								ENSG00000165124						139	145	143					9																	113171131		2040	4204	6244	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6749A>G	9.37:g.113171131T>C	ENSP00000384917:p.His2250Arg	Somatic	0	85	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	90	25.00	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.H2250R	ENST00000401783.2	37	c.6749	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734760	0.30774	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.62364	0.03;0.03;0.03	5.95	5.95	0.96441	Complement control module (2);Sushi/SCR/CCP (3);	0.192687	0.56097	D	0.000025	T	0.45856	0.1363	N	0.13198	0.31	0.80722	D	1	P	0.39352	0.669	B	0.38106	0.265	T	0.43081	-0.9413	10	0.14656	T	0.56	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	2250	Q4LDE5	SVEP1_HUMAN	R	2250;2227;176	ENSP00000384917:H2250R;ENSP00000363593:H2227R;ENSP00000297826:H176R	ENSP00000297826:H176R	H	-	2	0	SVEP1	112210952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.055000	0.71103	2.279000	0.76181	0.533000	0.62120	CAC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		T		-		113171131	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	1.000	C	C	113171131	T	C	113171131	3	2	196	1	0	0	0	0	1	0	0	0	15427	1696	59	5	4010	5	SVEP1	9	113171131	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1216566	113171131	28042300	1196	14468											
SVEP1	79987	genome.wustl.edu	37	chr9	113209263	113209263	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccacacaggtggcctgatttCtacatggattagactgacat	9	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113209263C>T	ENST00000401783.2	-	25	4514	c.4178G>A	c.(4177-4179)aGa>aAa	p.R1393K	SVEP1_ENST00000302728.8_Missense_Mutation_p.R1393K|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R1370K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1393	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCCTGATTTCTACATGGATT	0.393																																																	0								ENSG00000165124						67	67	67					9																	113209263		1835	3960	5795	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4178G>A	9.37:g.113209263C>T	ENSP00000384917:p.Arg1393Lys	Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	38	44.12	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.R1393K	ENST00000401783.2	37	c.4178	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	6.376	0.437471	0.12104	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.82344	-1.6;-1.6;-1.6	5.85	-0.223	0.13118	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.363451	0.29948	N	0.010787	T	0.53948	0.1828	N	0.01874	-0.695	0.23336	N	0.997888	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.006	T	0.46925	-0.9156	10	0.25106	T	0.35	.	5.6223	0.17463	0.1784:0.4093:0.0:0.4123	.	1393;1393	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	K	1393;1370;1393	ENSP00000384917:R1393K;ENSP00000363593:R1370K;ENSP00000304118:R1393K	ENSP00000304118:R1393K	R	-	2	0	SVEP1	112249084	0.947000	0.32204	0.964000	0.40570	0.967000	0.64934	1.382000	0.34374	-0.067000	0.12976	-0.794000	0.03295	AGA	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		C		-		113209263	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	0.947	T	T	113209263	C	T	113209263	3	4	196	1	0	0	0	0	1	0	0	0	15427	913	32	2	6633	2	SVEP1	9	113209263	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	38132	113209263	28004168	1197	14469											
SVEP1	79987	genome.wustl.edu	37	chr9	113244718	113244718	+	Missense_Mutation	SNP	C	C	T													tatactgtactatagtctccCcttgagggaaaaggtctcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113244718C>T	ENST00000401783.2	-	11	2429	c.2093G>A	c.(2092-2094)gGg>gAg	p.G698E	SVEP1_ENST00000302728.8_Missense_Mutation_p.G698E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G675E|SVEP1_ENST00000374461.1_Missense_Mutation_p.G675E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	698	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATAGTCTCCCCTTGAGGGAA	0.428																																																	0								ENSG00000165124						107	98	101					9																	113244718		1901	4135	6036	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2093G>A	9.37:g.113244718C>T	ENSP00000384917:p.Gly698Glu	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	63	32.26	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G698E	ENST00000401783.2	37	c.2093	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934891	0.92458	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.83	5.83	0.93111	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.90542	3.125	0.50313	D	0.999864	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.77073	-0.2723	10	0.42905	T	0.14	.	20.1316	0.98000	0.0:1.0:0.0:0.0	.	698;698;698	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	E	698;675;698;675	ENSP00000384917:G698E;ENSP00000363593:G675E;ENSP00000304118:G698E;ENSP00000363585:G675E	ENSP00000304118:G698E	G	-	2	0	SVEP1	112284539	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	6.489000	0.73641	2.766000	0.95052	0.650000	0.86243	GGG	-	pfam_Hyalin,pfscan_Hyalin		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		C		-		113244718	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113244718	C	T	113244718	3	4	196	1	0	0	0	0	1	0	0	0	15427	623	22	2	8774	2	SVEP1	9	113244718	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	35455	113244718	27968713	1198	14470	295	2									
SVEP1	79987	genome.wustl.edu	37	chr9	113244719	113244719	+	Missense_Mutation	SNP	C	C	T													atactgtactatagtctcccCttgagggaaaaggtctcctt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113244719C>T	ENST00000401783.2	-	11	2428	c.2092G>A	c.(2092-2094)Ggg>Agg	p.G698R	SVEP1_ENST00000302728.8_Missense_Mutation_p.G698R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G675R|SVEP1_ENST00000374461.1_Missense_Mutation_p.G675R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	698	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAGTCTCCCCTTGAGGGAAA	0.423																																																	0								ENSG00000165124						104	96	98					9																	113244719		1901	4134	6035	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2092G>A	9.37:g.113244719C>T	ENSP00000384917:p.Gly698Arg	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	64	31.91	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G698R	ENST00000401783.2	37	c.2092	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989804	0.93106	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.83	5.83	0.93111	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	M	0.93939	3.475	0.50632	D	0.999883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.85073	0.0941	10	0.72032	D	0.01	.	20.1316	0.98000	0.0:1.0:0.0:0.0	.	698;698;698	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	R	698;675;698;675	ENSP00000384917:G698R;ENSP00000363593:G675R;ENSP00000304118:G698R;ENSP00000363585:G675R	ENSP00000304118:G698R	G	-	1	0	SVEP1	112284540	1.000000	0.71417	0.969000	0.41365	0.953000	0.61014	6.489000	0.73641	2.766000	0.95052	0.650000	0.86243	GGG	-	pfam_Hyalin,pfscan_Hyalin		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		C		-		113244719	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	0.999	T	T	113244719	C	T	113244719	3	4	196	1	0	0	0	0	1	0	0	0	15427	681	24	2	8775	2	SVEP1	9	113244719	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	113244719	27968712	1199	14471	295	2									
MUSK	4593	genome.wustl.edu	37	chr9	113459746	113459746	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaagctggaagttgagGgtaaggagctgcatttcttc	15	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113459746G>A	ENST00000374448.4	+	5	762	c.628G>A	c.(628-630)Gtt>Att	p.V210I	MUSK_ENST00000374439.1_Splice_Site_p.G92S|MUSK_ENST00000374440.3_Splice_Site_p.G92S|MUSK_ENST00000189978.5_Splice_Site_p.V210I|MUSK_ENST00000416899.2_Splice_Site_p.V210I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	210					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGAAGTTGAGGGTAAGGAGCT	0.517																																																	0								ENSG00000030304						84	86	85					9																	113459746		1961	4146	6107	MUSK	SO:0001630	splice_region_variant	0			-	HGNC	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.628+1G>A	9.37:g.113459746G>A		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	77	27.36	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V210I	ENST00000374448.4	37	c.628	CCDS48005.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.0|21.0|21.0	4.077718|4.077718|4.077718	0.76528|0.76528|0.76528	.|.|.	.|.|.	ENSG00000030304|ENSG00000030304|ENSG00000030304	ENST00000374447;ENST00000545907|ENST00000374440;ENST00000374439|ENST00000189978;ENST00000374448;ENST00000543335;ENST00000416899	.|T;T|T	.|0.29142|0.31769	.|1.58;1.58|1.48	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|Immunoglobulin-like fold (1);	.|.|0.122223	.|.|0.56097	.|.|D	.|.|0.000034	T|T|T	0.34279|0.34279|0.34279	0.0892|0.0892|0.0892	L|L|L	0.56199|0.56199|0.56199	1.76|1.76|1.76	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|.|B	0.40302|.|0.21452	0.712|.|0.056	B|.|B	0.42188|.|0.22601	0.379|.|0.04	T|T|T	0.04103|0.04103|0.04103	-1.0977|-1.0977|-1.0977	8|7|10	0.12430|0.10636|0.38643	T|T|T	0.62|0.68|0.18	.|.|.	18.6627|18.6627|18.6627	0.91477|0.91477|0.91477	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	210|.|210	F5H6T2|.|O15146	.|.|MUSK_HUMAN	K|S|I	210|92|210	.|ENSP00000363563:G92S;ENSP00000363562:G92S|ENSP00000363571:V210I	ENSP00000363570:E210K|ENSP00000363562:G92S|ENSP00000189978:V210I	E|G|V	+|+|+	1|1|1	0|0|0	MUSK|MUSK|MUSK	112499567|112499567|112499567	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.912000|0.912000|0.912000	0.54170|0.54170|0.54170	7.898000|7.898000|7.898000	0.87363|0.87363|0.87363	2.740000|2.740000|2.740000	0.93945|0.93945|0.93945	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGT|GTT	-	NULL		0.517	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	protein_coding		G		-	Missense_Mutation	113459746	1	no_errors	ENST00000374448	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113459746	G	A	113459746	5	1	196	1	0	0	0	0	0	0	1	0	9991	1246	43	2	646	2	MUSK	9	113459746	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	215027	113459746	27753685	1200	14472											
MUSK	4593	genome.wustl.edu	37	chr9	113530214	113530214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcctatgcggaccctgaGgaggcccaagagctactggt	12	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113530214G>A	ENST00000374448.4	+	9	1169	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	MUSK_ENST00000189978.5_Silent_p.E345E|MUSK_ENST00000416899.2_Silent_p.E345E	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	345	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGGACCCTGAGGAGGCCCAAG	0.532																																																	0								ENSG00000030304						77	80	79					9																	113530214		1933	4143	6076	MUSK	SO:0001819	synonymous_variant	0			-	HGNC	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1035G>A	9.37:g.113530214G>A		Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	63	40.00	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E345	ENST00000374448.4	37	c.1035	CCDS48005.1	9																																																																																			-	pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom		0.532	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	protein_coding		G		-		113530214	1	no_errors	ENST00000374448	ensembl	human	known	74_37	silent	SNP	1.000	A	A	113530214	G	A	113530214	2	1	196	1	0	0	0	0	0	0	0	1	9991	991	35	2		2	MUSK	9	113530214	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	70468	113530214	27683217	1201	14473											
KIAA0368	23392	genome.wustl.edu	37	chr9	114213754	114213754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtttgagcaaaacaggaGgaaggaatttagatataata	11	2	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:114213754G>A	ENST00000338205.5	-	2	323	c.104C>T	c.(103-105)cCt>cTt	p.P35L	KIAA0368_ENST00000259335.4_Missense_Mutation_p.P213L			Q5VYK3	ECM29_HUMAN	KIAA0368	41					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAAAACAGGAGGAAGGAATTT	0.353																																																	0								ENSG00000136813						59	55	56					9																	114213754		1833	4091	5924	KIAA0368	SO:0001583	missense	0			-	HGNC	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.104C>T	9.37:g.114213754G>A	ENSP00000339889:p.Pro35Leu	Somatic	0	99	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	61	38.38	O15074|Q8WU82	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P213L	ENST00000338205.5	37	c.638		9	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855599	0.91355	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.50813	0.73	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55817	-0.8081	10	0.30078	T	0.28	.	19.5072	0.95124	0.0:0.0:1.0:0.0	.	41	Q5VYK3	ECM29_HUMAN	L	35;213	ENSP00000259335:P213L	ENSP00000259335:P213L	P	-	2	0	KIAA0368	113253575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.607000	0.88179	0.591000	0.81541	CCT	-	superfamily_ARM-type_fold		0.353	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	protein_coding	OTTHUMT00000053637.2	G	NM_014686	-		114213754	-1	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114213754	G	A	114213754	3	1	196	1	0	0	0	0	1	0	0	0	8173	1000	35	2	5607	2	KIAA0368	9	114213754	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	683540	114213754	26999677	1202	14474											
FKBP15	23307	genome.wustl.edu	37	chr9	115962207	115962207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctgggagagcactgcatCcagggaagaggtactgttgc	15	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:115962207C>T	ENST00000238256.3	-	7	652	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	179					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGCACTGCATCCAGGGAAGAG	0.458																																																	0								ENSG00000119321						60	57	58					9																	115962207		2016	4184	6200	FKBP15	SO:0001583	missense	0			-	HGNC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.535G>A	9.37:g.115962207C>T	ENSP00000238256:p.Asp179Asn	Somatic	0	49	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	32.31	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.D179N	ENST00000238256.3	37	c.535	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710704	0.68730	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.44881	0.91;0.91;0.91	5.95	5.06	0.68205	.	.	.	.	.	T	0.40839	0.1133	L	0.54323	1.7	0.39263	D	0.964258	B;B;B	0.26318	0.033;0.146;0.019	B;B;B	0.27715	0.06;0.082;0.027	T	0.40440	-0.9563	9	0.56958	D	0.05	-3.7995	12.9858	0.58592	0.0:0.9223:0.0:0.0777	.	179;179;179	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	N	204;179;204	ENSP00000416158:D204N;ENSP00000238256:D179N;ENSP00000415733:D204N	ENSP00000238256:D179N	D	-	1	0	FKBP15	115002028	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.195000	0.65131	1.531000	0.49152	-0.140000	0.14226	GAT	-	NULL		0.458	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	protein_coding		C	NM_015258	-		115962207	-1	no_errors	ENST00000238256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	115962207	C	T	115962207	3	4	196	1	0	0	0	0	1	0	0	0	5907	855	30	2	3212	2	FKBP15	9	115962207	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1748453	115962207	25251224	1203	14475											
ZNF618	114991	genome.wustl.edu	37	chr9	116795004	116795004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcagttcgcagaactcCagcggtgagtgtgccccttg	12	12	0	2	rs371788408		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:116795004C>T	ENST00000374126.5	+	12	1263	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.S295S			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	388					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(4)|lung(10)|urinary_tract(1)	16						CGCAGAACTCCAGCGGTGAGT	0.607																																																	0								ENSG00000157657						95	105	102					9																	116795004		2062	4182	6244	ZNF618	SO:0001819	synonymous_variant	0			-	HGNC	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1164C>T	9.37:g.116795004C>T		Somatic	0	41	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP							superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S388	ENST00000374126.5	37	c.1164		9																																																																																			-	NULL		0.607	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	protein_coding	OTTHUMT00000053749.1	C	XM_054983	-		116795004	1	no_errors	ENST00000374126	ensembl	human	known	74_37	silent	SNP	1.000	T	T	116795004	C	T	116795004	2	4	196	1	0	0	0	0	0	0	0	1	18049	581	21	2		2	ZNF618	9	116795004	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	832797	116795004	24418427	1204	14476											
TNFSF15	9966	genome.wustl.edu	37	chr9	117555839	117555839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtgcaaactcctgtcCttttagagcctattgggaaa	10	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:117555839C>T	ENST00000374045.4	-	2	333	c.220G>A	c.(220-222)Gga>Aga	p.G74R	TNFSF15_ENST00000374044.1_5'Flank|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	74					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						AACTCCTGTCCTTTTAGAGCC	0.418																																																	0								ENSG00000181634						130	107	115					9																	117555839		2203	4300	6503	TNFSF15	SO:0001583	missense	0			-	HGNC	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.220G>A	9.37:g.117555839C>T	ENSP00000363157:p.Gly74Arg	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.G74R	ENST00000374045.4	37	c.220	CCDS6809.1	9	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247527	0.22880	.	.	ENSG00000181634	ENST00000374045	T	0.22743	1.94	5.02	5.02	0.67125	.	1.418940	0.04375	N	0.359839	T	0.17152	0.0412	N	0.14661	0.345	0.80722	D	1	B	0.22003	0.063	B	0.21360	0.034	T	0.03068	-1.1076	10	0.20519	T	0.43	-25.2418	14.5595	0.68126	0.0:1.0:0.0:0.0	.	74	O95150	TNF15_HUMAN	R	74	ENSP00000363157:G74R	ENSP00000363157:G74R	G	-	1	0	TNFSF15	116595660	0.000000	0.05858	0.008000	0.14137	0.206000	0.24218	0.724000	0.25954	2.708000	0.92522	0.585000	0.79938	GGA	-	NULL		0.418	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	protein_coding	OTTHUMT00000055424.2	C	NM_005118	-		117555839	-1	no_errors	ENST00000374045	ensembl	human	known	74_37	missense	SNP	0.012	T	T	117555839	C	T	117555839	3	4	196	1	0	0	0	0	1	0	0	0	16315	690	24	2	547	2	TNFSF15	9	117555839	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	760835	117555839	23657592	1205	14477											
TNC	3371	genome.wustl.edu	37	chr9	117852886	117852886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcctgcagtacattgctCcctcagggaagacaccaggt	10	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:117852886C>T	ENST00000350763.4	-	2	823	c.412G>A	c.(412-414)Gag>Aag	p.E138K	TNC_ENST00000341037.4_Missense_Mutation_p.E138K|TNC_ENST00000340094.3_Missense_Mutation_p.E138K|TNC_ENST00000535648.1_Missense_Mutation_p.E138K|TNC_ENST00000345230.3_Missense_Mutation_p.E138K|TNC_ENST00000537320.1_Missense_Mutation_p.E138K|TNC_ENST00000423613.2_Missense_Mutation_p.E138K|TNC_ENST00000346706.3_Missense_Mutation_p.E138K|TNC_ENST00000542877.1_Missense_Mutation_p.E138K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	138					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						GTACATTGCTCCCTCAGGGAA	0.607																																																	0								ENSG00000041982						95	104	101					9																	117852886		2203	4300	6503	TNC	SO:0001583	missense	0			-	HGNC		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.412G>A	9.37:g.117852886C>T	ENSP00000265131:p.Glu138Lys	Somatic	0	18	0		0.52429534266604	13	51.85	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E138K	ENST00000350763.4	37	c.412	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274415	0.80580	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.94	5.94	0.96194	.	0.092886	0.64402	D	0.000001	T	0.60702	0.2289	M	0.71036	2.16	0.58432	D	0.999997	D;D	0.63880	0.993;0.973	D;P	0.64506	0.926;0.87	T	0.61367	-0.7077	10	0.87932	D	0	.	19.3401	0.94337	0.0:1.0:0.0:0.0	.	138;138	E9PC84;P24821	.;TENA_HUMAN	K	138	ENSP00000344400:E138K;ENSP00000438152:E138K;ENSP00000344555:E138K;ENSP00000345861:E138K;ENSP00000265131:E138K;ENSP00000339553:E138K;ENSP00000411406:E138K;ENSP00000443478:E138K;ENSP00000442242:E138K	ENSP00000344400:E138K	E	-	1	0	TNC	116892707	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	4.741000	0.62095	2.803000	0.96430	0.655000	0.94253	GAG	-	NULL		0.607	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160	-		117852886	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117852886	C	T	117852886	3	4	196	1	0	0	0	0	1	0	0	0	16277	864	30	2	6301	2	TNC	9	117852886	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	297047	117852886	23360545	1206	14478											
ASTN2	23245	genome.wustl.edu	37	chr9	119737615	119737615	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaggccttggcccaagctGaaagtagacctgcaatgtaa	11	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:119737615G>A	ENST00000313400.4	-	10	1861	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	ASTN2_ENST00000361209.2_Silent_p.F536F|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	587					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCCCAAGCTGAAAGTAGACC	0.552																																																	0								ENSG00000148219						59	56	57					9																	119737615		2203	4300	6503	ASTN2	SO:0001819	synonymous_variant	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1761C>T	9.37:g.119737615G>A		Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.F587	ENST00000313400.4	37	c.1761		9																																																																																			-	NULL		0.552	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		G	NM_014010	-		119737615	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	silent	SNP	1.000	A	A	119737615	G	A	119737615	2	1	196	1	0	0	0	0	0	0	0	1	1065	1281	45	2		2	ASTN2	9	119737615	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1884729	119737615	21475816	1207	14479											
ASTN2	23245	genome.wustl.edu	37	chr9	119770453	119770453	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acccatggggaggtggcattGatctggtaatacagggaaag	15	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:119770453G>A	ENST00000313400.4	-	7	1609	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	ASTN2_ENST00000361209.2_Silent_p.I452I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.I503I			O75129	ASTN2_HUMAN	astrotactin 2	503					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGTGGCATTGATCTGGTAAT	0.577																																																	0								ENSG00000148219						110	97	101					9																	119770453		2203	4300	6503	ASTN2	SO:0001819	synonymous_variant	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1509C>T	9.37:g.119770453G>A		Somatic	0	88	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	102	28.67	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.I503	ENST00000313400.4	37	c.1509		9																																																																																			-	NULL		0.577	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		G	NM_014010	-		119770453	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	silent	SNP	1.000	A	A	119770453	G	A	119770453	2	1	196	1	0	0	0	0	0	0	0	1	1065	1280	45	2		2	ASTN2	9	119770453	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	32838	119770453	21442978	1208	14480											
MEGF9	1955	genome.wustl.edu	37	chr9	123476543	123476548	+	In_Frame_Del	DEL	CGGCGG	CGGCGG	-													cgccgaggcggctgaggcgaCggcggcggcggcggcggcgg					rs200946879|rs369989873	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	CGGCGG	CGGCGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:123476543_123476548delCGGCGG	ENST00000373930.3	-	1	200_205	c.89_94delCCGCCG	c.(88-96)gccgccgtc>gtc	p.AA30del	MEGF9_ENST00000426959.1_In_Frame_Del_p.AA22del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	30	Ala-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						gctgaggcgacggcggcggcggcggc	0.782														3349	0.66873	0.6044	0.7637	5008	,	,		7106	0.5853		0.7058	False		,,,				2504	0.7362																0								ENSG00000106780			26,6		13,0,3						2.8	0.2		dbSNP_119	1	80,32		39,2,15	no	coding	MEGF9	NM_001080497.2		52,2,18	A1A1,A1R,RR		28.5714,18.75,26.3889				106,38				MEGF9	SO:0001651	inframe_deletion	0				HGNC	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.89_94delCCGCCG	9.37:g.123476549_123476554delCGGCGG	ENSP00000363040:p.Ala30_Ala31del	Somatic					0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z315|O75098	In_Frame_Del	DEL							pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.AA22in_frame_del	ENST00000373930.3	37	c.70_65	CCDS48010.2	9																																																																																			-	NULL		0.782	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	protein_coding	OTTHUMT00000055513.1	CGGCGG	NM_001080497			123476548	-1	no_errors	ENST00000426959	ensembl	human	known	74_37	in_frame_del	DEL	0.255:0.243:0.247:0.263:0.993:0.998	-	-	123476548	CGGCGG	-	123476543	7	5	196	1	0	1	0	1	0	0	0	0	9466	536	19	0	1881	0	MEGF9	9	123476543	In_Frame_Del	DEL	CGGCGG	TCGA-QC-A7B5-01A-11D-A33E-09	3706090	123476543	17736888	1209	14481											
TRAF1	7185	genome.wustl.edu	37	chr9	123667463	123667463	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgagcttaggtcaggccgGaaggcgtcaatggcgtgctc	16	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:123667463G>A	ENST00000373887.3	-	8	3531	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	TRAF1_ENST00000540010.1_Silent_p.F362F|TRAF1_ENST00000546084.1_Silent_p.F240F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	362	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GGTCAGGCCGGAAGGCGTCAA	0.602																																																	0								ENSG00000056558						97	68	78					9																	123667463		2203	4300	6503	TRAF1	SO:0001819	synonymous_variant	0			-	HGNC	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.1086C>T	9.37:g.123667463G>A		Somatic	0	29	0		0.52429534266604	31	31.11	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00	B4DJ77|Q658U1|Q8NF13	Silent	SNP							pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.F362	ENST00000373887.3	37	c.1086	CCDS6825.1	9																																																																																			-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.602	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	protein_coding	OTTHUMT00000053843.1	G	NM_005658	-		123667463	-1	no_errors	ENST00000373887	ensembl	human	known	74_37	silent	SNP	1.000	A	A	123667463	G	A	123667463	2	1	196	1	0	0	0	0	0	0	0	1	16444	1165	41	2		2	TRAF1	9	123667463	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	190920	123667463	17545968	1210	14482											
OR1J2	26740	genome.wustl.edu	37	chr9	125273338	125273338	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgctgatggacatgcgGactaagtacaaatcgatcct	10	8	0	2	rs138188243		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:125273338G>A	ENST00000335302.5	+	1	258	c.258G>A	c.(256-258)cgG>cgA	p.R86R		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R86R(1)		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						TGGACATGCGGACTAAGTACA	0.423																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000197233						188	154	166					9																	125273338		2203	4300	6503	OR1J2	SO:0001819	synonymous_variant	0			-	HGNC		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.258G>A	9.37:g.125273338G>A		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	59	30.59	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R86	ENST00000335302.5	37	c.258	CCDS35121.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	protein_coding	OTTHUMT00000053932.1	G		rs138188243		125273338	1	no_errors	ENST00000335302	ensembl	human	known	74_37	silent	SNP	0.001	A	A	125273338	G	A	125273338	2	1	196	1	0	0	0	0	0	0	0	1	10962	1161	41	2		2	OR1J2	9	125273338	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1605875	125273338	15940093	1211	14483											
OR1L4	254973	genome.wustl.edu	37	chr9	125487078	125487078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtccatgtactcagtgatGaagggccgggtagccacagt	13	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:125487078G>A	ENST00000259466.1	+	1	810	c.810G>A	c.(808-810)atG>atA	p.M270I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACTCAGTGATGAAGGGCCGGG	0.483																																																	0								ENSG00000136939						103	98	99					9																	125487078		2203	4300	6503	OR1L4	SO:0001583	missense	0			-	HGNC		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.810G>A	9.37:g.125487078G>A	ENSP00000259466:p.Met270Ile	Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	68	29.90	Q6IFN0|Q96R81	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M270I	ENST00000259466.1	37	c.810	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	.	2.042	-0.419896	0.04734	.	.	ENSG00000136939	ENST00000259466	T	0.00076	8.76	4.12	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.305688	0.23405	N	0.048531	T	0.00039	0.0001	N	0.01576	-0.805	0.09310	N	0.999992	B	0.06786	0.001	B	0.09377	0.004	T	0.10200	-1.0640	10	0.22109	T	0.4	-18.4927	2.7127	0.05179	0.1073:0.2584:0.4765:0.1578	.	270	Q8NGR5	OR1L4_HUMAN	I	270	ENSP00000259466:M270I	ENSP00000259466:M270I	M	+	3	0	OR1L4	124526899	0.000000	0.05858	0.999000	0.59377	0.076000	0.17211	-1.447000	0.02396	0.953000	0.37825	-1.347000	0.01240	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	protein_coding	OTTHUMT00000053951.1	G		-		125487078	1	no_errors	ENST00000259466	ensembl	human	known	74_37	missense	SNP	0.975	A	A	125487078	G	A	125487078	3	1	196	1	0	0	0	0	1	0	0	0	10967	1290	45	2	812	2	OR1L4	9	125487078	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	213740	125487078	15726353	1212	14484											
NEK6	10783	genome.wustl.edu	37	chr9	127088703	127088703	+	Missense_Mutation	SNP	G	G	A													ggagcacatgcattcacgccGggtgatgcaccgaggtacgt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:127088703G>A	ENST00000320246.5	+	6	645	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	NEK6_ENST00000373600.3_Missense_Mutation_p.R201Q|NEK6_ENST00000394199.2_Missense_Mutation_p.R201Q|NEK6_ENST00000545174.1_Missense_Mutation_p.R167Q|NEK6_ENST00000546191.1_Missense_Mutation_p.R167Q|NEK6_ENST00000540326.1_Missense_Mutation_p.R185Q|NEK6_ENST00000539416.1_Missense_Mutation_p.R192Q|NEK6_ENST00000373603.1_Missense_Mutation_p.R167Q	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CATTCACGCCGGGTGATGCAC	0.622																																					NSCLC(122;934 1785 18647 44295 45571)												0								ENSG00000119408						73	64	67					9																	127088703		2203	4300	6503	NEK6	SO:0001583	missense	0			-	HGNC	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.500G>A	9.37:g.127088703G>A	ENSP00000319734:p.Arg167Gln	Somatic	0	24	0		0.52429534266604	68	18.07	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.82	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R201Q	ENST00000320246.5	37	c.602	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.562686	0.96527	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	3.12;3.12;3.12;3.12;3.12;1.82;1.05;3.12;1.82;3.12;3.12;1.82;3.12;3.12	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (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	0.52058	0.1711	L	0.42686	1.345	0.80722	D	1	P;D;D;D	0.58970	0.923;0.984;0.964;0.957	P;P;P;P	0.53722	0.63;0.733;0.73;0.493	T	0.48115	-0.9063	10	0.59425	D	0.04	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	192;201;167;185	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	Q	167;185;201;167;99;167;167;99;167;167;201;167;167;192;167	ENSP00000362705:R167Q;ENSP00000441469:R185Q;ENSP00000362702:R201Q;ENSP00000319734:R167Q;ENSP00000442636:R167Q;ENSP00000389517:R167Q;ENSP00000405215:R99Q;ENSP00000362698:R167Q;ENSP00000403087:R167Q;ENSP00000377749:R201Q;ENSP00000441426:R167Q;ENSP00000411401:R167Q;ENSP00000439651:R192Q;ENSP00000403414:R167Q	ENSP00000319734:R167Q	R	+	2	0	NEK6	126128524	1.000000	0.71417	0.515000	0.27774	0.869000	0.49853	9.274000	0.95731	2.840000	0.97914	0.655000	0.94253	CGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.622	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	protein_coding	OTTHUMT00000054016.1	G	NM_014397	-		127088703	1	no_errors	ENST00000373600	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127088703	G	A	127088703	3	1	196	1	0	0	0	0	1	0	0	0	10330	1116	39	1	703	1	NEK6	9	127088703	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1601625	127088703	14124728	1213	14485	296	2									
NEK6	10783	genome.wustl.edu	37	chr9	127088704	127088704	+	Silent	SNP	G	G	A													gagcacatgcattcacgccgGgtgatgcaccgaggtacgtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:127088704G>A	ENST00000320246.5	+	6	646	c.501G>A	c.(499-501)cgG>cgA	p.R167R	NEK6_ENST00000373600.3_Silent_p.R201R|NEK6_ENST00000394199.2_Silent_p.R201R|NEK6_ENST00000545174.1_Silent_p.R167R|NEK6_ENST00000546191.1_Silent_p.R167R|NEK6_ENST00000540326.1_Silent_p.R185R|NEK6_ENST00000539416.1_Silent_p.R192R|NEK6_ENST00000373603.1_Silent_p.R167R	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ATTCACGCCGGGTGATGCACC	0.617																																					NSCLC(122;934 1785 18647 44295 45571)												0								ENSG00000119408						72	64	67					9																	127088704		2203	4300	6503	NEK6	SO:0001819	synonymous_variant	0			-	HGNC	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.501G>A	9.37:g.127088704G>A		Somatic	0	24	0		0.52429534266604	64	17.95	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.82	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R201	ENST00000320246.5	37	c.603	CCDS6854.1	9																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.617	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	protein_coding	OTTHUMT00000054016.1	G	NM_014397	-		127088704	1	no_errors	ENST00000373600	ensembl	human	known	74_37	silent	SNP	0.965	A	A	127088704	G	A	127088704	2	1	196	1	0	0	0	0	0	0	0	1	10330	1219	43	2		2	NEK6	9	127088704	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	127088704	14124727	1214	14486	296	2									
ANGPTL2	23452	genome.wustl.edu	37	chr9	129854204	129854204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccagtattcgccgtcaaTgttcccaaacccttgctggg	9	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:129854204T>C	ENST00000373425.3	-	4	1644	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.I41V|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	343	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCGCCGTCAATGTTCCCAAAC	0.567																																																	0								ENSG00000136859						195	188	190					9																	129854204		2203	4300	6503	ANGPTL2	SO:0001583	missense	0			-	HGNC	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1027A>G	9.37:g.129854204T>C	ENSP00000362524:p.Ile343Val	Somatic	0	52	0		0.52429534266604	157	49.68	156	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	44	35.29	Q5JT58|Q8NCH7	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.I343V	ENST00000373425.3	37	c.1027	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	T	11.00	1.511614	0.27036	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	T;T	0.76448	-1.02;-1.02	5.2	5.2	0.72013	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	T	0.68568	0.3015	N	0.16743	0.435	0.80722	D	1	B	0.21225	0.053	B	0.35607	0.206	T	0.63359	-0.6655	10	0.21014	T	0.42	.	15.3682	0.74541	0.0:0.0:0.0:1.0	.	343	Q9UKU9	ANGL2_HUMAN	V	343;41	ENSP00000362524:I343V;ENSP00000362516:I41V	ENSP00000362516:I41V	I	-	1	0	ANGPTL2	128894025	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	7.997000	0.88414	2.082000	0.62665	0.533000	0.62120	ATT	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.567	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	protein_coding	OTTHUMT00000054129.1	T	NM_012098	-		129854204	-1	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	SNP	1.000	C	C	129854204	T	C	129854204	3	2	196	1	0	0	0	0	1	0	0	0	614	1464	51	5	462	5	ANGPTL2	9	129854204	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2765500	129854204	11359227	1215	14487											
ANGPTL2	23452	genome.wustl.edu	37	chr9	129870370	129870370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcggggggtggctggGggacgggcctggccgagggc	26	9	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:129870370G>A	ENST00000373425.3	-	2	1258	c.641C>T	c.(640-642)cCc>cTc	p.P214L	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	214					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGTGGCTGGGGGACGGGCCT	0.632																																																	0								ENSG00000136859						24	24	24					9																	129870370		2203	4299	6502	ANGPTL2	SO:0001583	missense	0			-	HGNC	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.641C>T	9.37:g.129870370G>A	ENSP00000362524:p.Pro214Leu	Somatic	0	10	0		0.52429534266604	73	46.48	66	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q5JT58|Q8NCH7	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P214L	ENST00000373425.3	37	c.641	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570888	0.13623	.	.	ENSG00000136859	ENST00000373425	T	0.38560	1.13	4.93	4.93	0.64822	.	0.444819	0.25119	N	0.032987	T	0.26846	0.0657	N	0.19112	0.55	0.80722	D	1	B	0.30937	0.301	B	0.26770	0.073	T	0.07481	-1.0770	10	0.26408	T	0.33	.	12.9024	0.58133	0.0789:0.0:0.9211:0.0	.	214	Q9UKU9	ANGL2_HUMAN	L	214	ENSP00000362524:P214L	ENSP00000362524:P214L	P	-	2	0	ANGPTL2	128910191	1.000000	0.71417	0.996000	0.52242	0.139000	0.21198	6.255000	0.72466	2.447000	0.82792	0.655000	0.94253	CCC	-	NULL		0.632	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	protein_coding	OTTHUMT00000054129.1	G	NM_012098	-		129870370	-1	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	SNP	0.996	A	A	129870370	G	A	129870370	3	1	196	1	0	0	0	0	1	0	0	0	614	1232	43	2	856	2	ANGPTL2	9	129870370	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	16166	129870370	11343061	1216	14488											
TTC16	158248	genome.wustl.edu	37	chr9	130485607	130485607	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggaccccagtctcttcctCttccggtactgcatgggaag	10	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:130485607C>T	ENST00000373289.3	+	7	947	c.867C>T	c.(865-867)ctC>ctT	p.L289L	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Silent_p.L113L	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	289										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTCTCTTCCTCTTCCGGTACT	0.607																																																	0								ENSG00000167094						77	54	62					9																	130485607		2202	4297	6499	TTC16	SO:0001819	synonymous_variant	0			-	HGNC	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.867C>T	9.37:g.130485607C>T		Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	53	32.91	B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP							pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L289	ENST00000373289.3	37	c.867	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	C	8.891	0.953954	0.18431	.	.	ENSG00000167094	ENST00000373288;ENST00000316259	.	.	.	5.03	2.01	0.26516	.	0.171047	0.37348	N	0.002133	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08576	-1.0715	6	0.18710	T	0.47	-20.0107	4.7708	0.13155	0.0:0.6065:0.1924:0.2011	.	.	.	.	F	115;234	.	ENSP00000319048:L234F	L	+	1	0	TTC16	129525428	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	-0.049000	0.11924	0.702000	0.31825	0.462000	0.41574	CTT	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	protein_coding	OTTHUMT00000054224.1	C	NM_144965	-		130485607	1	no_errors	ENST00000373289	ensembl	human	known	74_37	silent	SNP	1.000	T	T	130485607	C	T	130485607	2	4	196	1	0	0	0	0	0	0	0	1	16690	900	32	2		2	TTC16	9	130485607	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	615237	130485607	10727824	1217	14489											
ST6GALNAC4	27090	genome.wustl.edu	37	chr9	130670790	130670790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcctgctcgtgtgccaGgtacatctgacactcatcta	11	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:130670790G>A	ENST00000335791.5	-	6	1065	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.L180L	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	264					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TCGTGTGCCAGGTACATCTGA	0.637																																																	0								ENSG00000136840						71	73	72					9																	130670790		2203	4300	6503	ST6GALNAC4	SO:0001819	synonymous_variant	0			-	HGNC	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.790C>T	9.37:g.130670790G>A		Somatic	0	82	0		0.52429534266604	78	38.58	49	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	67	38.53	Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP							pfam_Glyco_trans_29	p.L264	ENST00000335791.5	37	c.790	CCDS6883.1	9																																																																																			-	pfam_Glyco_trans_29		0.637	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC4	protein_coding	OTTHUMT00000054317.2	G	NM_175040	-		130670790	-1	no_errors	ENST00000335791	ensembl	human	known	74_37	silent	SNP	0.955	A	A	130670790	G	A	130670790	2	1	196	1	0	0	0	0	0	0	0	1	15233	991	35	2		2	ST6GALNAC4	9	130670790	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	185183	130670790	10542641	1218	14490											
DNM1	1759	genome.wustl.edu	37	chr9	131008733	131008733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgggacgtggagaagGgctttatgtcgagcaagcat	16	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131008733G>A	ENST00000372923.3	+	16	1824	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	DNM1_ENST00000475805.1_Missense_Mutation_p.G578S|DNM1_ENST00000493925.1_3'UTR|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.G578S|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Missense_Mutation_p.G578S|DNM1_ENST00000341179.7_Missense_Mutation_p.G578S	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CGTGGAGAAGGGCTTTATGTC	0.562																																					GBM(113;146 1575 2722 28670 29921)												0								ENSG00000106976						213	155	175					9																	131008733		2203	4300	6503	DNM1	SO:0001583	missense	0			-	HGNC	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1732G>A	9.37:g.131008733G>A	ENSP00000362014:p.Gly578Ser	Somatic	0	49	0		0.52429534266604	131	40.45	89	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.G578S	ENST00000372923.3	37	c.1732	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312362	0.60414	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.062597	0.64402	D	0.000005	T	0.65450	0.2692	L	0.39147	1.195	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.005	T	0.62369	-0.6869	10	0.41790	T	0.15	-16.1089	12.3027	0.54884	0.0817:0.0:0.9183:0.0	.	578;578	Q05193;Q05193-3	DYN1_HUMAN;.	S	578;578;578;573;578;578;123	ENSP00000419225:G578S;ENSP00000345680:G578S;ENSP00000362014:G578S;ENSP00000377219:G578S;ENSP00000420045:G578S	ENSP00000345680:G578S	G	+	1	0	DNM1	130048554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.375000	0.73137	2.436000	0.82500	0.498000	0.49722	GGC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.562	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	protein_coding	OTTHUMT00000054367.1	G	NM_004408	-		131008733	1	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	SNP	1.000	A	A	131008733	G	A	131008733	3	1	196	1	0	0	0	0	1	0	0	0	4672	1232	43	2	1789	2	DNM1	9	131008733	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	337943	131008733	10204698	1219	14491											
SET	6418	genome.wustl.edu	37	chr9	131454159	131454159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatgaacaagccagtgagGagattttgaaagtagaacag	11	4	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131454159G>A	ENST00000372692.4	+	3	434	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SET_ENST00000477806.1_3'UTR|SET_ENST00000322030.8_Missense_Mutation_p.E52K|SET_ENST00000409104.3_Missense_Mutation_p.E43K|SET_ENST00000372688.4_Missense_Mutation_p.E41K	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	65	Dimerization.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGCCAGTGAGGAGATTTTGAA	0.328			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0								ENSG00000119335						20	21	21					9																	131454159		2193	4295	6488	SET	SO:0001583	missense	0			-	HGNC	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.193G>A	9.37:g.131454159G>A	ENSP00000361777:p.Glu65Lys	Somatic	0	45	0		0.52429534266604	94	40.88	65	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP							pfam_NAP_family	p.E65K	ENST00000372692.4	37	c.193	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810266	0.90707	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.58428	1.81	0.80722	D	1	P;P;P	0.45011	0.635;0.794;0.848	P;P;P	0.54924	0.461;0.523;0.764	T	0.50030	-0.8875	10	0.46703	T	0.11	.	17.3156	0.87222	0.0:0.0:1.0:0.0	.	41;52;65	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	K	65;43;52;41;40	ENSP00000361777:E65K;ENSP00000387321:E43K;ENSP00000318012:E52K;ENSP00000361773:E41K;ENSP00000361771:E40K	ENSP00000318012:E52K	E	+	1	0	SET	130493980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.312000	0.78011	0.555000	0.69702	GAG	-	pfam_NAP_family		0.328	SET-001	KNOWN	basic|CCDS	protein_coding	SET	protein_coding	OTTHUMT00000054476.2	G	NM_001122821	-		131454159	1	no_errors	ENST00000372692	ensembl	human	known	74_37	missense	SNP	1.000	A	A	131454159	G	A	131454159	3	1	196	1	0	0	0	0	1	0	0	0	14136	1175	41	2	280	2	SET	9	131454159	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	445426	131454159	9759272	1220	14492											
TBC1D13	54662	genome.wustl.edu	37	chr9	131554812	131554812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccggtggaacacgtacttCaaggacaacgaggtgctgct	13	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131554812C>T	ENST00000372648.5	+	6	492	c.342C>T	c.(340-342)ttC>ttT	p.F114F	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Silent_p.F114F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	114	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACACGTACTTCAAGGACAACG	0.627																																																	0								ENSG00000107021						96	71	80					9																	131554812		2203	4300	6503	TBC1D13	SO:0001819	synonymous_variant	0			-	HGNC	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.342C>T	9.37:g.131554812C>T		Somatic	0	55	0		0.52429534266604	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	57	22.97	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP							pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F114	ENST00000372648.5	37	c.342	CCDS6911.1	9																																																																																			-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	protein_coding	OTTHUMT00000054496.1	C	NM_018201	-		131554812	1	no_errors	ENST00000372648	ensembl	human	known	74_37	silent	SNP	1.000	T	T	131554812	C	T	131554812	2	4	196	1	0	0	0	0	0	0	0	1	15609	825	29	2		2	TBC1D13	9	131554812	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	100653	131554812	9658619	1221	14493											
NUP188	23511	genome.wustl.edu	37	chr9	131755834	131755834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggatgtggagctgtctcCatgcagtgctggagctgatt	15	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131755834C>A	ENST00000372577.2	+	27	2899	c.2878C>A	c.(2878-2880)Cat>Aat	p.H960N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	960					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)|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 pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAGCTGTCTCCATGCAGTGCT	0.552																																																	0								ENSG00000095319						189	168	175					9																	131755834		2203	4300	6503	NUP188	SO:0001583	missense	0			-	HGNC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2878C>A	9.37:g.131755834C>A	ENSP00000361658:p.His960Asn	Somatic	0	47	0		0.52429534266604	24	40	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP							pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.H960N	ENST00000372577.2	37	c.2878	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205620	0.39003	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30981	1.51	5.55	5.55	0.83447	.	0.213520	0.49916	D	0.000127	T	0.30262	0.0759	L	0.40543	1.245	0.41012	D	0.985012	B;B	0.22080	0.064;0.011	B;B	0.18263	0.021;0.01	T	0.03818	-1.1001	10	0.49607	T	0.09	-29.8728	18.8488	0.92218	0.0:1.0:0.0:0.0	.	293;960	E9PET9;Q5SRE5	.;NU188_HUMAN	N	849;960	ENSP00000361658:H960N	ENSP00000349125:H849N	H	+	1	0	NUP188	130795655	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	4.394000	0.59671	2.767000	0.95098	0.655000	0.94253	CAT	-	superfamily_ARM-type_fold		0.552	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	protein_coding	OTTHUMT00000054529.2	C		-		131755834	1	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	SNP	1.000	A	A	131755834	C	A	131755834	3	1	196	1	0	0	0	0	1	0	0	0	10760	594	21	3	2984	3	NUP188	9	131755834	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	201022	131755834	9457597	1222	14494											
C9orf50	375759	genome.wustl.edu	37	chr9	132375485	132375485	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagggcaggctgctgttCatggaggtgtcctcagaaag	15	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:132375485C>T	ENST00000372478.4	-	6	1290	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	363										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GGCTGCTGTTCATGGAGGTGT	0.622																																																	0								ENSG00000179058						44	43	43					9																	132375485		2203	4300	6503	C9orf50	SO:0001583	missense	0			-	HGNC	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1089G>A	9.37:g.132375485C>T	ENSP00000361556:p.Met363Ile	Somatic	0	89	0		0.52429534266604	10	47.37	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	73	36.52	Q2M1I2|Q8NA65	Missense_Mutation	SNP							NULL	p.M363I	ENST00000372478.4	37	c.1089	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399657	0.25291	.	.	ENSG00000179058	ENST00000372478	T	0.17370	2.28	3.3	2.37	0.29283	.	0.878208	0.09433	N	0.802785	T	0.11367	0.0277	N	0.24115	0.695	0.09310	N	1	B	0.33171	0.4	B	0.30646	0.118	T	0.27400	-1.0075	10	0.37606	T	0.19	-5.2022	8.4107	0.32642	0.0:0.7583:0.2416:0.0	.	363	Q5SZB4	CI050_HUMAN	I	363	ENSP00000361556:M363I	ENSP00000361556:M363I	M	-	3	0	C9orf50	131415306	0.007000	0.16637	0.003000	0.11579	0.260000	0.26232	1.117000	0.31234	0.930000	0.37217	0.442000	0.29010	ATG	-	NULL		0.622	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	protein_coding	OTTHUMT00000054593.1	C	NM_199350	-		132375485	-1	no_errors	ENST00000372478	ensembl	human	known	74_37	missense	SNP	0.004	T	T	132375485	C	T	132375485	3	4	196	1	0	0	0	0	1	0	0	0	2489	826	29	2	214	2	C9orf50	9	132375485	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	619651	132375485	8837946	1223	14495											
GPR107	57720	genome.wustl.edu	37	chr9	132841942	132841942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaccagaagctggtacCcagttaccaaagatcatctt	6	13	3	2	rs147298143		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:132841942C>T	ENST00000372406.1	+	5	927	c.420C>T	c.(418-420)acC>acT	p.T140T	GPR107_ENST00000347136.6_Silent_p.T140T|GPR107_ENST00000372410.3_Silent_p.T140T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	140						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGCTGGTACCCAGTTACCAA	0.493																																																	0								ENSG00000148358	C	,,	1,4405	2.1+/-5.4	0,1,2202	76	71	73		420,420,420	1	0.9	9	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GPR107	NM_001136557.1,NM_001136558.1,NM_020960.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	140/601,140/572,140/553	132841942	1,13005	2203	4300	6503	GPR107	SO:0001819	synonymous_variant	0			-	HGNC	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.420C>T	9.37:g.132841942C>T		Somatic	0	61	0		0.52429534266604	8	27.27	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP							pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt	p.T140	ENST00000372406.1	37	c.420	CCDS48041.1	9																																																																																			-	NULL		0.493	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	protein_coding	OTTHUMT00000054643.2	C		rs147298143		132841942	1	no_errors	ENST00000372410	ensembl	human	known	74_37	silent	SNP	0.958	T	T	132841942	C	T	132841942	2	4	196	1	0	0	0	0	0	0	0	1	6625	610	22	2		2	GPR107	9	132841942	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	466457	132841942	8371489	1224	14496											
ASS1	445	genome.wustl.edu	37	chr9	133355185	133355185	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgtacctgaacgaagtCgcgtgagtgtctgcagccct	11	11	2	2	rs547904731		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:133355185C>T	ENST00000372394.1	+	11	1252	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.V257V|ASS1_ENST00000352480.5_Silent_p.V257V			P00966	ASSY_HUMAN	argininosuccinate synthase 1	257					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGAACGAAGTCGCGTGAGTGT	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		16542	0		0	False		,,,				2504	0																0								ENSG00000130707						73	64	67					9																	133355185		2203	4300	6503	ASS1	SO:0001819	synonymous_variant	0			-	HGNC	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.771C>T	9.37:g.133355185C>T		Somatic	0	43	0		0.52429534266604	36	45.45	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	41	38.81	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP							pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.V257	ENST00000372394.1	37	c.771	CCDS6933.1	9																																																																																			-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	protein_coding	OTTHUMT00000054652.1	C	NM_000050	-		133355185	1	no_errors	ENST00000352480	ensembl	human	known	74_37	silent	SNP	0.815	T	T	133355185	C	T	133355185	2	4	196	1	0	0	0	0	0	0	0	1	1061	871	31	1		1	ASS1	9	133355185	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	513243	133355185	7858246	1225	14497											
LAMC3	10319	genome.wustl.edu	37	chr9	133927960	133927960	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccccggggactccccactCcctgtacagctgaggctgga	11	18	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:133927960C>T	ENST00000361069.4	+	10	1846	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	571	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTCCCCACTCCCTGTACAGC	0.632											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000050555						45	51	49					9																	133927960		2203	4300	6503	LAMC3	SO:0001819	synonymous_variant	0			-	HGNC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1713C>T	9.37:g.133927960C>T		Somatic	0	71	0	1606	0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	59	31.40	B1APX9|B1APY0|Q59H72	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L571	ENST00000361069.4	37	c.1713	CCDS6938.1	9																																																																																			-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	C	NM_006059	-		133927960	1	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	SNP	0.000	T	T	133927960	C	T	133927960	2	4	196	1	0	0	0	0	0	0	0	1	8618	842	30	2		2	LAMC3	9	133927960	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	572775	133927960	7285471	1226	14498											
BAT2L1	84726	genome.wustl.edu	37	chr9	134346221	134346221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccggtgtaccccccgcCgtcccacccccagcgcacct	9	23	0	0	rs149752367		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:134346221C>T	ENST00000357304.4	+	13	2013	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P653L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P653L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	653							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TACCCCCCGCCGTCCCACCCC	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		15286	0		0	False		,,,				2504	0																0								ENSG00000130723	C	LEU/PRO	1,4159		0,1,2079	31	35	34		1958	5.9	0.4	9	dbSNP_134	34	0,8396		0,0,4198	no	missense	PRRC2B	NM_013318.3	98	0,1,6277	TT,TC,CC		0.0,0.024,0.0080	probably-damaging	653/2230	134346221	1,12555	2080	4198	6278	PRRC2B	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1958C>T	9.37:g.134346221C>T	ENSP00000349856:p.Pro653Leu	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	67	21.18	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP							pfam_BAT2_N	p.P653L	ENST00000357304.4	37	c.1958	CCDS48044.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.85	3.712355	0.68730	2.4E-4	0.0	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.16897	2.31;2.31;2.31	5.91	5.91	0.95273	.	0.000000	0.41605	U	0.000860	T	0.34832	0.0911	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	P	0.54372	0.75	T	0.04991	-1.0913	10	0.72032	D	0.01	-0.9002	14.1587	0.65432	0.1496:0.8504:0.0:0.0	.	653	Q5JSZ5	PRC2B_HUMAN	L	653	ENSP00000384606:P653L;ENSP00000349856:P653L;ENSP00000398853:P653L	ENSP00000349856:P653L	P	+	2	0	PRRC2B	133336042	0.997000	0.39634	0.368000	0.25939	0.325000	0.28411	2.895000	0.48648	2.813000	0.96785	0.655000	0.94253	CCG	-	NULL		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		C		rs149752367		134346221	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	SNP	0.983	T	T	134346221	C	T	134346221	3	4	196	1	0	0	0	0	1	0	0	0	1320	652	23	1	2008	1	BAT2L1	9	134346221	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	418261	134346221	6867210	1227	14499											
TSC1	7248	genome.wustl.edu	37	chr9	135782743	135782743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacatggtcttgcagaAtccattctctcttcctgaaa	7	10	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:135782743A>G	ENST00000298552.3	-	13	1499	c.1278T>C	c.(1276-1278)gaT>gaC	p.D426D	TSC1_ENST00000440111.2_Silent_p.D426D|TSC1_ENST00000545250.1_Silent_p.D375D	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	426					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTGCAGAATCCATTCTCT	0.383			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)						ENSG00000165699						141	123	129					9																	135782743		2203	4300	6503	TSC1	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	-	HGNC	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1278T>C	9.37:g.135782743A>G		Somatic	0	37	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	B7Z897|Q5VVN5	Silent	SNP							pfam_Hamartin,superfamily_ARM-type_fold	p.D426	ENST00000298552.3	37	c.1278	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	A	3.944	-0.013556	0.07727	.	.	ENSG00000165699	ENST00000424271	.	.	.	5.11	-4.39	0.03611	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.47737	D	0.9995	.	.	.	.	.	.	T	0.52320	-0.8591	5	0.66056	D	0.02	-6.0097	1.1347	0.01752	0.3397:0.2737:0.2536:0.1329	.	.	.	.	T	305	.	ENSP00000393473:I305T	I	-	2	0	TSC1	134772564	0.160000	0.22878	0.012000	0.15200	0.587000	0.36485	-0.322000	0.08007	-1.005000	0.03417	0.477000	0.44152	ATT	-	pfam_Hamartin		0.383	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	protein_coding	OTTHUMT00000054799.1	A		-		135782743	-1	no_errors	ENST00000298552	ensembl	human	known	74_37	silent	SNP	0.237	G	G	135782743	A	G	135782743	2	3	196	1	0	0	0	0	0	0	0	1	16612	98	4	5		5	TSC1	9	135782743	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1436522	135782743	5430688	1228	14500											
GTF3C5	9328	genome.wustl.edu	37	chr9	135919222	135919222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaaggaggcctttttcCaccaggagctgccgctctac	11	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:135919222C>T	ENST00000372097.5	+	3	804	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	GTF3C5_ENST00000372108.5_Missense_Mutation_p.H161Y|GTF3C5_ENST00000372099.6_Missense_Mutation_p.H152Y|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372095.5_Missense_Mutation_p.H36Y|GTF3C5_ENST00000342018.8_Missense_Mutation_p.H161Y	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	161					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGCCTTTTTCCACCAGGAGCT	0.602																																																	0								ENSG00000148308						91	89	90					9																	135919222		2203	4300	6503	GTF3C5	SO:0001583	missense	0			-	HGNC	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.481C>T	9.37:g.135919222C>T	ENSP00000361169:p.His161Tyr	Somatic	0	40	0		0.52429534266604	40	51.81	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	42	36.36	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP							pfam_TF_IIIC_su-5	p.H161Y	ENST00000372097.5	37	c.481	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853664	0.71719	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.98	4.0	0.46444	.	0.270857	0.41712	D	0.000832	T	0.47451	0.1446	L	0.54323	1.7	0.35947	D	0.833605	D;P;P	0.54601	0.967;0.599;0.692	P;B;B	0.52066	0.689;0.245;0.359	T	0.59825	-0.7381	10	0.66056	D	0.02	5.0823	9.9932	0.41883	0.5832:0.4168:0.0:0.0	.	36;161;161	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	Y	161;114;152;36;11;161;161;36	ENSP00000361169:H161Y;ENSP00000361171:H152Y;ENSP00000361180:H161Y;ENSP00000339530:H161Y	ENSP00000339530:H161Y	H	+	1	0	GTF3C5	134909043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.934000	0.48956	1.007000	0.39238	0.563000	0.77884	CAC	-	pfam_TF_IIIC_su-5		0.602	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	protein_coding	OTTHUMT00000054826.1	C	NM_001122823	-		135919222	1	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	SNP	1.000	T	T	135919222	C	T	135919222	3	4	196	1	0	0	0	0	1	0	0	0	6878	594	21	2	491	2	GTF3C5	9	135919222	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	136479	135919222	5294209	1229	14501											
ABO	28	genome.wustl.edu	37	chr9	136131317	136131317	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgaccccccgaagaacccCcccaggtagtagaaatcgcc	8	18	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136131317C>T	ENST00000453660.2	-	0	811				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGAAGAACCCCCCCAGGTAGT	0.677																																																	0								ENSG00000175164						20	23	22					9																	136131317		1962	4128	6090	ABO			0			-	HGNC	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131317C>T		Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	61	28.24	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP							-	NULL	ENST00000453660.2	37	NULL		9																																																																																			-	-		0.677	ABO-001	KNOWN	basic	processed_transcript	ABO	processed_transcript	OTTHUMT00000054907.4	C	NM_020469	-		136131317	-1	no_errors	ENST00000453660	ensembl	human	known	74_37	rna	SNP	0.003	T	T	136131317	C	T	136131317	1	4	196	0	1	0	0	0	0	0	0	0	97	610	22	2		2	ABO	9	136131317	RNA	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	212095	136131317	5082114	1230	14502											
ABO	28	genome.wustl.edu	37	chr9	136131470	136131470	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacgcccacgtggtcgcgGaactccatgtccacgtccac	9	18	0	0	rs386739124		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136131470G>A	ENST00000453660.2	-	0	658				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGTGGTCGCGGAACTCCATGT	0.647																																																	0								ENSG00000175164						29	35	33					9																	136131470		2168	4250	6418	ABO			0			-	HGNC	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131470G>A		Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	38	45.71	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP							-	NULL	ENST00000453660.2	37	NULL		9																																																																																			-	-		0.647	ABO-001	KNOWN	basic	processed_transcript	ABO	processed_transcript	OTTHUMT00000054907.4	G	NM_020469	-		136131470	-1	no_errors	ENST00000453660	ensembl	human	known	74_37	rna	SNP	0.259	A	A	136131470	G	A	136131470	1	1	196	0	1	0	0	0	0	0	0	0	97	1165	41	2		2	ABO	9	136131470	RNA	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	153	136131470	5081961	1231	14503											
DBH	1621	genome.wustl.edu	37	chr9	136507497	136507497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccatggaggtccaagctCccaatatccagatccccagc	8	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136507497C>T	ENST00000393056.2	+	3	667	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	219					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGTCCAAGCTCCCAATATCCA	0.592																																																	0								ENSG00000123454						69	63	65					9																	136507497		2203	4300	6503	DBH	SO:0001583	missense	0			-	HGNC	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.655C>T	9.37:g.136507497C>T	ENSP00000376776:p.Pro219Ser	Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	108	26.53	Q5T381|Q96AG2	Missense_Mutation	SNP							pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.P219S	ENST00000393056.2	37	c.655	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	C	6.519	0.463915	0.12402	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.37235	1.21;1.21	4.67	3.76	0.43208	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.050806	0.85682	D	0.000000	T	0.33411	0.0862	L	0.60067	1.865	0.54753	D	0.999984	B	0.12630	0.006	B	0.18871	0.023	T	0.11299	-1.0593	10	0.15952	T	0.53	-32.2293	13.4129	0.60952	0.0:0.9217:0.0:0.0783	.	219	P09172	DOPO_HUMAN	S	219;156;156	ENSP00000376776:P219S;ENSP00000263611:P156S	ENSP00000263611:P156S	P	+	1	0	DBH	135497318	0.996000	0.38824	0.005000	0.12908	0.003000	0.03518	4.455000	0.60075	1.076000	0.40961	0.491000	0.48974	CCC	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom		0.592	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	protein_coding	OTTHUMT00000054929.2	C	NM_000787	-		136507497	1	no_errors	ENST00000393056	ensembl	human	known	74_37	missense	SNP	0.988	T	T	136507497	C	T	136507497	3	4	196	1	0	0	0	0	1	0	0	0	4252	855	30	2	665	2	DBH	9	136507497	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	376027	136507497	4705934	1232	14504											
VAV2	7410	genome.wustl.edu	37	chr9	136634550	136634550	+	Missense_Mutation	SNP	G	G	A													cagcggtacctgaccagaagGgagcggaggggccctgagaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136634550G>A	ENST00000371850.3	-	28	2454	c.2423C>T	c.(2422-2424)cCc>cTc	p.P808L	VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371851.1_Missense_Mutation_p.P798L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	808					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGACCAGAAGGGAGCGGAGGG	0.637																																																	0								ENSG00000160293						46	45	46					9																	136634550		1564	3578	5142	VAV2	SO:0001583	missense	0			-	HGNC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2423C>T	9.37:g.136634550G>A	ENSP00000360916:p.Pro808Leu	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	48	40.00	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.P808L	ENST00000371850.3	37	c.2423	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619063	0.87460	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000325440	T;T	0.17213	2.29;2.29	4.29	4.29	0.51040	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.30665	0.0772	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11916	-1.0568	10	0.87932	D	0	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	808	P52735	VAV2_HUMAN	L	808;798;798	ENSP00000360916:P808L;ENSP00000360917:P798L	ENSP00000317258:P798L	P	-	2	0	VAV2	135624371	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	9.064000	0.93933	1.943000	0.56356	0.313000	0.20887	CCC	-	superfamily_SH3_domain		0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	protein_coding	OTTHUMT00000054939.1	G		-		136634550	-1	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136634550	G	A	136634550	3	1	196	1	0	0	0	0	1	0	0	0	17139	1232	43	2	225	2	VAV2	9	136634550	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	127053	136634550	4578881	1233	14505	297	2									
VAV2	7410	genome.wustl.edu	37	chr9	136634551	136634551	+	Missense_Mutation	SNP	G	G	A													agcggtacctgaccagaaggGagcggaggggccctgagaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136634551G>A	ENST00000371850.3	-	28	2453	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371851.1_Missense_Mutation_p.P798S	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	808					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GACCAGAAGGGAGCGGAGGGG	0.632																																																	0								ENSG00000160293						47	46	46					9																	136634551		1564	3579	5143	VAV2	SO:0001583	missense	0			-	HGNC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2422C>T	9.37:g.136634551G>A	ENSP00000360916:p.Pro808Ser	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	51	38.55	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.P808S	ENST00000371850.3	37	c.2422	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406202	0.83230	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000325440	T;T	0.17213	2.29;2.29	4.29	4.29	0.51040	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.28928	0.0718	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03060	-1.1077	10	0.31617	T	0.26	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	808	P52735	VAV2_HUMAN	S	808;798;798	ENSP00000360916:P808S;ENSP00000360917:P798S	ENSP00000317258:P798S	P	-	1	0	VAV2	135624372	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	9.064000	0.93933	1.943000	0.56356	0.313000	0.20887	CCC	-	superfamily_SH3_domain		0.632	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	protein_coding	OTTHUMT00000054939.1	G		-		136634551	-1	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136634551	G	A	136634551	3	1	196	1	0	0	0	0	1	0	0	0	17139	1174	41	2	226	2	VAV2	9	136634551	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	136634551	4578880	1234	14506	297	2									
SOHLH1	402381	genome.wustl.edu	37	chr9	138588519	138588519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtgcctcacacttgtcCgtgcccagggacgtgcagct	11	14	1	0	rs374493888		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:138588519C>T	ENST00000298466.5	-	5	660	c.600G>A	c.(598-600)acG>acA	p.T200T	SOHLH1_ENST00000425225.1_Silent_p.T200T	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	200					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CACACTTGTCCGTGCCCAGGG	0.682																																																	0								ENSG00000165643	C	,	2,4404	4.2+/-10.8	0,2,2201	51	46	47		600,600	-0.1	0	9		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SOHLH1	NM_001012415.2,NM_001101677.1	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	200/329,200/388	138588519	3,13003	2203	4300	6503	SOHLH1	SO:0001819	synonymous_variant	0			-	HGNC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.600G>A	9.37:g.138588519C>T		Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	96	32.39	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T200	ENST00000298466.5	37	c.600	CCDS35174.1	9																																																																																			-	NULL		0.682	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	protein_coding	OTTHUMT00000055018.2	C	NM_001012415	-		138588519	-1	no_errors	ENST00000425225	ensembl	human	known	74_37	silent	SNP	0.000	T	T	138588519	C	T	138588519	2	4	196	1	0	0	0	0	0	0	0	1	14931	639	23	1		1	SOHLH1	9	138588519	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1953968	138588519	2624912	1235	14507											
SEC16A	9919	genome.wustl.edu	37	chr9	139347927	139347927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcgcttagctcggaaaGtgagtttccaacaggcgcct	10	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139347927G>A	ENST00000371706.3	-	20	5611	c.5578C>T	c.(5578-5580)Ctt>Ttt	p.L1860F	SEC16A_ENST00000290037.6_Missense_Mutation_p.L1860F|SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000431893.2_Missense_Mutation_p.L1860F|SEC16A_ENST00000313050.7_Missense_Mutation_p.L2038F			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1860	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGCTCGGAAAGTGAGTTTCCA	0.453																																																	0								ENSG00000148396						86	89	88					9																	139347927		1917	4127	6044	SEC16A	SO:0001583	missense	0			-	HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5578C>T	9.37:g.139347927G>A	ENSP00000360771:p.Leu1860Phe	Somatic	0	76	0		0.52429534266604	30	21.05	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	101	26.43	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP							NULL	p.L2038F	ENST00000371706.3	37	c.6112		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.891307|1.891307	0.33442|0.33442	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348|ENST00000433860	T;T;T;T;T;T|.	0.42900|.	1.98;0.96;1.54;1.98;1.98;1.98|.	4.84|4.84	2.96|2.96	0.34315|0.34315	.|.	0.709413|.	0.14297|.	N|.	0.328524|.	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.25850|.	0.136;0.065;0.004;0.002;0.031|.	B;B;B;B;B|.	0.23574|.	0.047;0.034;0.006;0.003;0.011|.	T|T	0.17077|0.17077	-1.0381|-1.0381	10|5	0.28530|.	T|.	0.3|.	-4.9606|-4.9606	6.1552|6.1552	0.20334|0.20334	0.285:0.0:0.715:0.0|0.285:0.0:0.715:0.0	.|.	2038;1860;1860;1428;1860|.	F1T0I1;O15027-5;O15027-4;A4QN19;O15027|.	.;.;.;.;SC16A_HUMAN|.	F|I	2038;432;760;1860;1860;1860;1428;396|167	ENSP00000325827:L2038F;ENSP00000277537:L432F;ENSP00000403525:L760F;ENSP00000360771:L1860F;ENSP00000290037:L1860F;ENSP00000387583:L1860F|.	ENSP00000277537:L432F|.	L|T	-|-	1|2	0|0	SEC16A|SEC16A	138467748|138467748	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	1.338000|1.338000	0.33873|0.33873	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CTT|ACT	-	NULL		0.453	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055077.1	G	XM_088459	-		139347927	-1	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	SNP	0.001	A	A	139347927	G	A	139347927	3	1	196	1	0	0	0	0	1	0	0	0	13994	1029	36	2	1005	2	SEC16A	9	139347927	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	759408	139347927	1865504	1236	14508											
KIAA1984	84960	genome.wustl.edu	37	chr9	139698970	139698970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggaacatgaggcaaaGggaggcgtccttcatcgagg	15	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139698970G>A	ENST00000338005.6	+	7	718	c.683G>A	c.(682-684)aGg>aAg	p.R228K	KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		228										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATGAGGCAAAGGGAGGCGTCC	0.607																																																	0								ENSG00000213213						35	39	38					9																	139698970		1965	4132	6097	KIAA1984	SO:0001583	missense	0			-	HGNC																												ENST00000338005.6:c.683G>A	9.37:g.139698970G>A	ENSP00000338013:p.Arg228Lys	Somatic	0	24	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP							NULL	p.R228K	ENST00000338005.6	37	c.683	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792358	0.16258	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.13420	2.59	4.24	-2.7	0.06004	.	1.109350	0.07051	U	0.832005	T	0.04182	0.0116	N	0.02011	-0.69	0.23174	N	0.998174	B	0.02656	0.0	B	0.04013	0.001	T	0.37686	-0.9695	10	0.38643	T	0.18	-7.8547	2.6451	0.04982	0.2648:0.3375:0.2986:0.0991	.	228	Q5T5S1	K1984_HUMAN	K	228	ENSP00000338013:R228K	ENSP00000338013:R228K	R	+	2	0	KIAA1984	138818791	0.000000	0.05858	0.155000	0.22561	0.798000	0.45092	-0.572000	0.05881	-0.571000	0.06014	-1.012000	0.02466	AGG	-	NULL		0.607	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	protein_coding	OTTHUMT00000354899.1	G		-		139698970	1	no_errors	ENST00000338005	ensembl	human	known	74_37	missense	SNP	0.006	A	A	139698970	G	A	139698970	3	1	196	1	0	0	0	0	1	0	0	0	8268	1000	35	2	709	2	KIAA1984	9	139698970	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	351043	139698970	1514461	1237	14509											
KIAA1984	84960	genome.wustl.edu	37	chr9	139701265	139701265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagctggcgtactgcgaGgggaagctcacgtacctggc	15	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139701265G>A	ENST00000338005.6	+	12	1370	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000357466.2_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		445										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CGTACTGCGAGGGGAAGCTCA	0.627																																																	0								ENSG00000213213						43	49	47					9																	139701265		2148	4253	6401	KIAA1984	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000338005.6:c.1335G>A	9.37:g.139701265G>A		Somatic	0	51	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	40	39.39	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP							NULL	p.E445	ENST00000338005.6	37	c.1335	CCDS43906.1	9																																																																																			-	NULL		0.627	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	protein_coding	OTTHUMT00000354899.1	G		-		139701265	1	no_errors	ENST00000338005	ensembl	human	known	74_37	silent	SNP	0.524	A	A	139701265	G	A	139701265	2	1	196	1	0	0	0	0	0	0	0	1	8268	991	35	2		2	KIAA1984	9	139701265	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2295	139701265	1512166	1238	14510											
C9orf86	55684	genome.wustl.edu	37	chr9	139732377	139732377	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactttgttcctgacgAccgcctggaccgcagcttcc	12	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139732377A>T	ENST00000311502.7	+	10	1426	c.1190A>T	c.(1189-1191)gAc>gTc	p.D397V	RABL6_ENST00000371675.3_Missense_Mutation_p.D282V|RABL6_ENST00000371663.4_Missense_Mutation_p.D398V|RABL6_ENST00000432842.2_Missense_Mutation_p.D359V|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	397					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GTTCCTGACGACCGCCTGGAC	0.652																																																	0								ENSG00000196642						25	27	27					9																	139732377		1969	4100	6069	RABL6	SO:0001583	missense	0			-	HGNC	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1190A>T	9.37:g.139732377A>T	ENSP00000311134:p.Asp397Val	Somatic	0	67	0		0.52429534266604	175	31.15	81	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	66	30.21	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.D398V	ENST00000311502.7	37	c.1193	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	12.65	2.002556	0.35320	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000432842;ENST00000371675;ENST00000435930	T;T;T;T;T	0.69685	-0.36;-0.36;0.62;-0.37;-0.42	4.29	3.14	0.36123	.	0.133486	0.51477	D	0.000095	T	0.71358	0.3330	L	0.41027	1.25	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.988;0.989;0.975	T	0.69083	-0.5239	10	0.52906	T	0.07	-19.1503	8.9663	0.35879	0.9105:0.0:0.0895:0.0	.	191;398;397	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	V	398;397;359;282;191	ENSP00000360727:D398V;ENSP00000311134:D397V;ENSP00000414081:D359V;ENSP00000360740:D282V;ENSP00000408442:D191V	ENSP00000311134:D397V	D	+	2	0	C9orf86	138852198	1.000000	0.71417	0.058000	0.19502	0.025000	0.11179	6.665000	0.74442	0.522000	0.28464	0.260000	0.18958	GAC	-	NULL		0.652	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	protein_coding	OTTHUMT00000055141.4	A	NM_024718	-		139732377	1	no_errors	ENST00000371663	ensembl	human	known	74_37	missense	SNP	0.863	T	T	139732377	A	T	139732377	3	4	196	1	0	0	0	0	1	0	0	0	2504	275	10	5	1475	5	C9orf86	9	139732377	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	31112	139732377	1481054	1239	14511											
TPRN	286262	genome.wustl.edu	37	chr9	140093979	140093979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgggacaggccccctcCtcgactgcccactgtgcctc	10	19	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140093979C>T	ENST00000409012.4	-	1	1271	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.E334E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	395					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						AGGCCCCCTCCTCGACTGCCC	0.716																																																	0								ENSG00000176058						7	8	8					9																	140093979		2151	4255	6406	TPRN	SO:0001819	synonymous_variant	0			-	HGNC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1185G>A	9.37:g.140093979C>T		Somatic	0	16	0		0.52429534266604	23	32.35	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP							NULL	p.E395	ENST00000409012.4	37	c.1185	CCDS56594.1	9																																																																																			-	NULL		0.716	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	protein_coding	OTTHUMT00000055323.3	C	NM_173691	-		140093979	-1	no_errors	ENST00000409012	ensembl	human	known	74_37	silent	SNP	0.096	T	T	140093979	C	T	140093979	2	4	196	1	0	0	0	0	0	0	0	1	16428	680	24	2		2	TPRN	9	140093979	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	361602	140093979	1119452	1240	14512											
TMEM203	94107	genome.wustl.edu	37	chr9	140099807	140099807	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagggccagcaggtgcacGaagatctcgaaggtggcgaa	15	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140099807G>A	ENST00000343666.5	-	1	283	c.60C>T	c.(58-60)ttC>ttT	p.F20F	NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank|TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank|TMEM203_ENST00000537254.1_Silent_p.F20F	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	20						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGAAGATCTCGA	0.672																																																	0								ENSG00000187713						38	38	38					9																	140099807		2189	4285	6474	TMEM203	SO:0001819	synonymous_variant	0			-	HGNC	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.60C>T	9.37:g.140099807G>A		Somatic	0	98	0		0.52429534266604	82	17.17	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	149	13.79	Q6NW08	Silent	SNP							pfam_TM_Fragile-X-F-assoc	p.F20	ENST00000343666.5	37	c.60	CCDS35185.1	9																																																																																			-	pfam_TM_Fragile-X-F-assoc		0.672	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM203	protein_coding	OTTHUMT00000055325.2	G	NM_053045	-		140099807	-1	no_errors	ENST00000343666	ensembl	human	known	74_37	silent	SNP	0.997	A	A	140099807	G	A	140099807	2	1	196	1	0	0	0	0	0	0	0	1	16135	1049	37	1		1	TMEM203	9	140099807	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5828	140099807	1113624	1241	14513											
TUBB8	347688	genome.wustl.edu	37	chr10	93253	93253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggctgacatttttagcCcccggggtgggatgtcacag	15	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:93253C>T	ENST00000309812.4	-	4	1141	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	TUBB8_ENST00000447903.2_Missense_Mutation_p.G288E|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	360					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATTTTTAGCCCCCGGGGTGG	0.483																																					Pancreas(192;2041 3010 9013 18103)												0								ENSG00000173876						82	92	89					10																	93253		2203	4299	6502	TUBB8	SO:0001583	missense	0			-	HGNC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1079G>A	10.37:g.93253C>T	ENSP00000311042:p.Gly360Glu	Somatic	0	122	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	142	12.88	Q5SQX9|Q8WZ78	Missense_Mutation	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G360E	ENST00000309812.4	37	c.1079	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403350	0.25291	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.84516	-1.86	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	U	0.000014	D	0.92967	0.7762	H	0.96460	3.825	0.39351	D	0.965755	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.982	D	0.90266	0.4304	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	323;360	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	E	288;326;323;360	ENSP00000403895:G288E	ENSP00000272035:G326E	G	-	2	0	RP11-631M21.2	83253	1.000000	0.71417	0.030000	0.17652	0.030000	0.12068	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GGG	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.483	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	protein_coding	OTTHUMT00000467795.1	C	NM_177987	-		93253	-1	no_errors	ENST00000309812	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93253	C	T	93253	3	4	196	1	0	0	0	0	1	0	0	0	16768	623	22	2	259	2	TUBB8	10	93253	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		93253	135441494	1242	14514											
AKR1C4	1109	genome.wustl.edu	37	chr10	5242241	5242241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacaataatgaggagcaggTtggactggccatccgaagca	12	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5242241T>C	ENST00000380448.1	+	4	435	c.182T>C	c.(181-183)gTt>gCt	p.V61A	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.V61A			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	61					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GAGGAGCAGGTTGGACTGGCC	0.448																																																	0								ENSG00000198610						138	116	124					10																	5242241		2203	4300	6503	AKR1C4	SO:0001583	missense	0			-	HGNC	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.182T>C	10.37:g.5242241T>C	ENSP00000369814:p.Val61Ala	Somatic	0	110	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	91	33.09	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP							pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.V61A	ENST00000380448.1	37	c.182	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191391	0.58017	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.27256	1.68;1.68	3.32	3.32	0.38043	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.420220	0.18764	N	0.131817	T	0.54287	0.1849	M	0.89904	3.07	0.23003	N	0.998442	D	0.67145	0.996	D	0.73380	0.98	T	0.48222	-0.9054	10	0.87932	D	0	.	9.9163	0.41436	0.0:0.0:0.0:1.0	.	61	P17516	AK1C4_HUMAN	A	61	ENSP00000369814:V61A;ENSP00000263126:V61A	ENSP00000263126:V61A	V	+	2	0	AKR1C4	5232241	0.997000	0.39634	0.004000	0.12327	0.028000	0.11728	6.547000	0.73892	1.268000	0.44264	0.482000	0.46254	GTT	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	protein_coding	OTTHUMT00000046543.2	T	NM_001818	-		5242241	1	no_errors	ENST00000263126	ensembl	human	known	74_37	missense	SNP	0.534	C	C	5242241	T	C	5242241	3	2	196	1	0	0	0	0	1	0	0	0	472	1725	60	5	188	5	AKR1C4	10	5242241	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	5148988	5242241	130292506	1243	14515											
ASB13	79754	genome.wustl.edu	37	chr10	5683863	5683863	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctcgatgaggtcaacattCttgaccttggccgcgtggtg	12	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5683863C>T	ENST00000357700.6	-	5	605	c.579G>A	c.(577-579)aaG>aaA	p.K193K	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	193					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GGTCAACATTCTTGACCTTGG	0.557																																																	0								ENSG00000196372						123	100	108					10																	5683863		2203	4300	6503	ASB13	SO:0001819	synonymous_variant	0			-	HGNC	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.579G>A	10.37:g.5683863C>T		Somatic	0	43	0		0.52429534266604	17	15	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP							pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.K193	ENST00000357700.6	37	c.579	CCDS7070.1	10																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.557	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	protein_coding	OTTHUMT00000046564.1	C		-		5683863	-1	no_errors	ENST00000357700	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5683863	C	T	5683863	2	4	196	1	0	0	0	0	0	0	0	1	1017	912	32	2		2	ASB13	10	5683863	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	441622	5683863	129850884	1244	14516											
FBXO18	84893	genome.wustl.edu	37	chr10	5959430	5959430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggataacatgcggaagctGggggagtgcacagaagaggc	18	6	0	2	rs534355995		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5959430G>A	ENST00000362091.4	+	11	1951	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	FBXO18_ENST00000379999.5_Silent_p.L663L|FBXO18_ENST00000397269.3_Silent_p.L99L	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	612					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGCGGAAGCTGGGGGAGTGCA	0.572																																																	0								ENSG00000134452						57	61	59					10																	5959430		2203	4300	6503	FBXO18	SO:0001819	synonymous_variant	0			-	HGNC	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1836G>A	10.37:g.5959430G>A		Somatic	0	84	0		0.52429534266604	104	28.57	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	68	33.98	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP							pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.L663	ENST00000362091.4	37	c.1989	CCDS7072.1	10																																																																																			-	superfamily_P-loop_NTPase		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	protein_coding	OTTHUMT00000046596.1	G	NM_032807	-		5959430	1	no_errors	ENST00000379999	ensembl	human	known	74_37	silent	SNP	0.961	A	A	5959430	G	A	5959430	2	1	196	1	0	0	0	0	0	0	0	1	5733	1335	47	2		2	FBXO18	10	5959430	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	275567	5959430	129575317	1245	14517											
SFMBT2	57713	genome.wustl.edu	37	chr10	7269837	7269837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcggaagcagaagggagGggcttcctgcgccccatgct	14	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:7269837G>A	ENST00000361972.4	-	10	1273	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P395S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	395					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CAGAAGGGAGGGGCTTCCTGC	0.413																																																	0								ENSG00000198879						60	65	63					10																	7269837		2203	4300	6503	SFMBT2	SO:0001583	missense	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1183C>T	10.37:g.7269837G>A	ENSP00000355109:p.Pro395Ser	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	66	26.88	A7MD09|Q9HCF5	Missense_Mutation	SNP							pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.P395S	ENST00000361972.4	37	c.1183	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363296	0.61513	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.21031	2.03;2.03	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46247	-0.9205	10	0.51188	T	0.08	.	18.715	0.91672	0.0:0.0:1.0:0.0	.	395	Q5VUG0	SMBT2_HUMAN	S	395	ENSP00000355109:P395S;ENSP00000380353:P395S	ENSP00000355109:P395S	P	-	1	0	SFMBT2	7309843	1.000000	0.71417	0.957000	0.39632	0.343000	0.28985	7.514000	0.81750	2.588000	0.87417	0.563000	0.77884	CCT	-	smart_Mbt,pfscan_Mbt		0.413	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	G	NM_001029880	-		7269837	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	0.995	A	A	7269837	G	A	7269837	3	1	196	1	0	0	0	0	1	0	0	0	14166	1232	43	2	1549	2	SFMBT2	10	7269837	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1310407	7269837	128264910	1246	14518											
ITIH5	80760	genome.wustl.edu	37	chr10	7618664	7618664	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtggtgaggtagctcCagagacgctcgatgtggttg	15	8	0	2	rs377705957		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:7618664C>T	ENST00000256861.6	-	10	1808	c.1730G>A	c.(1729-1731)tGg>tAg	p.W577*	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Nonsense_Mutation_p.W577*|ITIH5_ENST00000446830.2_Nonsense_Mutation_p.W359*|ITIH5_ENST00000298441.6_Nonsense_Mutation_p.W363*|ITIH5_ENST00000397146.2_Nonsense_Mutation_p.W577*	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	577					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAGGTAGCTCCAGAGACGCTC	0.637																																																	0								ENSG00000123243	C	stop/TRP,stop/TRP,stop/TRP	0,4406		0,0,2203	47	47	47		1730,1730,1088	5.4	1	10		47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	577/703,577/943,363/729	7618664	1,13005	2203	4300	6503	ITIH5	SO:0001587	stop_gained	0			-	HGNC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1730G>A	10.37:g.7618664C>T	ENSP00000256861:p.Trp577*	Somatic	0	45	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Nonsense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.W577*	ENST00000256861.6	37	c.1730		10	.	.	.	.	.	.	.	.	.	.	C	37	6.594654	0.97692	0.0	1.16E-4	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2672	19.1863	0.93645	0.0:1.0:0.0:0.0	.	.	.	.	X	577;577;363;359;577	.	ENSP00000256861:W577X	W	-	2	0	ITIH5	7658670	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.155000	0.77445	2.516000	0.84829	0.462000	0.41574	TGG	-	NULL		0.637	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	C	NM_030569	-		7618664	-1	no_errors	ENST00000256861	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	7618664	C	T	7618664	4	4	196	1	0	0	0	0	0	1	0	0	7909	595	21	2	1241	2	ITIH5	10	7618664	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	348827	7618664	127916083	1247	14519											
ITIH5	80760	genome.wustl.edu	37	chr10	7684050	7684050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtcatcaaaggtttggTtttctgtaggaatgaaaaca	9	5	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:7684050T>C	ENST00000256861.6	-	3	217	c.139A>G	c.(139-141)Acc>Gcc	p.T47A	ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.T47A|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.T47A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	47	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AAAGGTTTGGTTTTCTGTAGG	0.393																																																	0								ENSG00000123243						92	90	91					10																	7684050		2203	4300	6503	ITIH5	SO:0001583	missense	0			-	HGNC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.139A>G	10.37:g.7684050T>C	ENSP00000256861:p.Thr47Ala	Somatic	0	115	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	96	35.76	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T47A	ENST00000256861.6	37	c.139		10	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530947	0.27387	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02631	4.79;4.22;4.22	5.71	1.75	0.24633	Vault protein inter-alpha-trypsin (1);	0.806297	0.11935	N	0.515289	T	0.03178	0.0093	.	.	.	0.39425	D	0.966989	B;B	0.25272	0.122;0.032	B;B	0.30572	0.117;0.063	T	0.44605	-0.9317	9	0.46703	T	0.11	-27.3919	5.9093	0.19018	0.0:0.169:0.1348:0.6962	.	47;47	G5E9D8;Q86UX2	.;ITIH5_HUMAN	A	47	ENSP00000256861:T47A;ENSP00000380333:T47A;ENSP00000380332:T47A	ENSP00000256861:T47A	T	-	1	0	ITIH5	7724056	1.000000	0.71417	0.998000	0.56505	0.389000	0.30415	1.993000	0.40747	0.035000	0.15519	0.379000	0.24179	ACC	-	smart_VIT		0.393	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	T	NM_030569	-		7684050	-1	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7684050	T	C	7684050	3	2	196	1	0	0	0	0	1	0	0	0	7909	1725	60	5	2874	5	ITIH5	10	7684050	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	65386	7684050	127850697	1248	14520											
ECHDC3	79746	genome.wustl.edu	37	chr10	11805393	11805393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccctgggcaaagccacCttctacaagcagctgcccca	9	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:11805393C>T	ENST00000379215.4	+	5	973	c.762C>T	c.(760-762)acC>acT	p.T254T	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	254						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCAAAGCCACCTTCTACAAGC	0.652																																																	0								ENSG00000134463						66	55	58					10																	11805393		2203	4300	6503	ECHDC3	SO:0001819	synonymous_variant	0			-	HGNC	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 3"			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.762C>T	10.37:g.11805393C>T		Somatic	0	61	0		0.52429534266604	35	16.67	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	66	24.14	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP							pfam_Crotonase_core_superfam	p.T254	ENST00000379215.4	37	c.762	CCDS7084.1	10																																																																																			-	NULL		0.652	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC3	protein_coding	OTTHUMT00000046771.1	C	NM_024693	-		11805393	1	no_errors	ENST00000379215	ensembl	human	known	74_37	silent	SNP	1.000	T	T	11805393	C	T	11805393	2	4	196	1	0	0	0	0	0	0	0	1	4897	668	24	2		2	ECHDC3	10	11805393	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4121343	11805393	123729354	1249	14521											
NMT2	9397	genome.wustl.edu	37	chr10	15161401	15161401	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaccagtgggctacttcctCttcatccatcactggagcca	8	14	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:15161401C>T	ENST00000378165.4	-	9	1191	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	NMT2_ENST00000535341.1_Missense_Mutation_p.E358K|NMT2_ENST00000540259.1_Missense_Mutation_p.E183K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.E358K	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	371					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GCTACTTCCTCTTCATCCATC	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)												0								ENSG00000152465						208	193	198					10																	15161401		2203	4300	6503	NMT2	SO:0001583	missense	0			-	HGNC	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1111G>A	10.37:g.15161401C>T	ENSP00000367407:p.Glu371Lys	Somatic	0	106	0		0.52429534266604	12	33.33	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	92	31.34	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP							pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E371K	ENST00000378165.4	37	c.1111	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450492	0.84101	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.53206	0.63	5.61	5.61	0.85477	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.149504	0.64402	D	0.000017	T	0.70124	0.3188	M	0.83223	2.63	0.80722	D	1	D;P;D	0.55385	0.971;0.556;0.971	P;P;P	0.60345	0.873;0.487;0.873	T	0.71919	-0.4447	9	.	.	.	-8.5776	19.6471	0.95779	0.0:1.0:0.0:0.0	.	371;358;371	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	K	371;358;402;183;358	ENSP00000367407:E371K	.	E	-	1	0	NMT2	15201407	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	7.669000	0.83911	2.629000	0.89072	0.655000	0.94253	GAG	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	protein_coding	OTTHUMT00000046958.2	C	NM_004808	-		15161401	-1	no_errors	ENST00000378165	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15161401	C	T	15161401	3	4	196	1	0	0	0	0	1	0	0	0	10506	922	32	2	401	2	NMT2	10	15161401	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3356008	15161401	120373346	1250	14522											
FAM171A1	221061	genome.wustl.edu	37	chr10	15255778	15255778	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagctgctgatcagccggGacgacgaggggctggctgac	16	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:15255778G>A	ENST00000378116.4	-	8	1815	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	603						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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						GATCAGCCGGGACGACGAGGG	0.572																																																	0								ENSG00000148468						68	75	73					10																	15255778		2203	4300	6503	FAM171A1	SO:0001819	synonymous_variant	0			-	HGNC	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.1809C>T	10.37:g.15255778G>A		Somatic	0	45	0		0.52429534266604	18	28	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	D3DRT9|Q32M49|Q8N4I0	Silent	SNP							pfam_Uncharacterised_FAM171	p.V603	ENST00000378116.4	37	c.1809	CCDS31154.1	10																																																																																			-	pfam_Uncharacterised_FAM171		0.572	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	protein_coding	OTTHUMT00000046984.1	G	XM_167709	-		15255778	-1	no_errors	ENST00000378116	ensembl	human	known	74_37	silent	SNP	0.847	A	A	15255778	G	A	15255778	2	1	196	1	0	0	0	0	0	0	0	1	5492	1161	41	2		2	FAM171A1	10	15255778	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	94377	15255778	120278969	1251	14523											
PTER	9317	genome.wustl.edu	37	chr10	16526508	16526508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttactgtccacctccccCgtgccaggaagctatttcca	7	16	0	0	rs141767754	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:16526508C>T	ENST00000378000.1	+	3	371	c.125C>T	c.(124-126)cCg>cTg	p.P42L	PTER_ENST00000423462.2_Missense_Mutation_p.P42L|PTER_ENST00000535784.2_Missense_Mutation_p.P42L|PTER_ENST00000298942.3_Missense_Mutation_p.P42L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	42					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CCACCTCCCCCGTGCCAGGAA	0.453																																					Ovarian(2;46 150 15648 38137 47908)												0								ENSG00000165983	C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	92	90	91		125,125	5.2	0.1	10	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTER	NM_001001484.1,NM_030664.3	98,98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	42/350,42/350	16526508	2,13004	2203	4300	6503	PTER	SO:0001583	missense	0			-	HGNC	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.125C>T	10.37:g.16526508C>T	ENSP00000367239:p.Pro42Leu	Somatic	0	75	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	66	27.47	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP							pfam_Aryldialkylphosphatase,pfam_TatD_family	p.P42L	ENST00000378000.1	37	c.125	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699470	0.30142	2.27E-4	1.16E-4	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.08	5.18	0.71444	.	0.325348	0.36374	N	0.002636	T	0.46444	0.1393	M	0.83012	2.62	0.46654	D	0.99914	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.005	T	0.48570	-0.9024	10	0.11182	T	0.66	-3.7147	15.6829	0.77385	0.0:0.9345:0.0:0.0655	.	42;42	Q96BW5-2;Q96BW5	.;PTER_HUMAN	L	42	ENSP00000439485:P42L;ENSP00000389535:P42L;ENSP00000367239:P42L;ENSP00000298942:P42L	ENSP00000298942:P42L	P	+	2	0	PTER	16566514	0.049000	0.20398	0.083000	0.20561	0.127000	0.20565	3.368000	0.52357	1.590000	0.49995	0.655000	0.94253	CCG	-	pfam_Aryldialkylphosphatase		0.453	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	protein_coding	OTTHUMT00000047001.2	C	NM_030664	rs141767754		16526508	1	no_errors	ENST00000298942	ensembl	human	known	74_37	missense	SNP	0.392	T	T	16526508	C	T	16526508	3	4	196	1	0	0	0	0	1	0	0	0	12744	652	23	1	127	1	PTER	10	16526508	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1270730	16526508	119008239	1252	14524											
CUBN	8029	genome.wustl.edu	37	chr10	16955938	16955938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgaggatttgggttcgGgtagttgggagaagtaaatg	17	3	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:16955938G>A	ENST00000377833.4	-	48	7470	c.7405C>T	c.(7405-7407)Ccg>Tcg	p.P2469S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2469	CUB 18. {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)			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)	TTTGGGTTCGGGTAGTTGGGA	0.502																																																	0								ENSG00000107611						98	95	96					10																	16955938		2203	4300	6503	CUBN	SO:0001583	missense	0			-	HGNC	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.7405C>T	10.37:g.16955938G>A	ENSP00000367064:p.Pro2469Ser	Somatic	0	131	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	116	36.22	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.P2469S	ENST00000377833.4	37	c.7405	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906580	0.92107	.	.	ENSG00000107611	ENST00000377833	T	0.52754	0.65	5.42	5.42	0.78866	CUB (5);	0.154695	0.30501	N	0.009498	T	0.80188	0.4577	H	0.97240	3.965	0.80722	D	1	D	0.65815	0.995	D	0.66084	0.941	D	0.87302	0.2306	10	0.72032	D	0.01	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	2469	O60494	CUBN_HUMAN	S	2469	ENSP00000367064:P2469S	ENSP00000367064:P2469S	P	-	1	0	CUBN	16995944	1.000000	0.71417	0.861000	0.33841	0.889000	0.51656	7.262000	0.78410	2.553000	0.86117	0.591000	0.81541	CCG	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.502	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	G	NM_001081	-		16955938	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16955938	G	A	16955938	3	1	196	1	0	0	0	0	1	0	0	0	4053	1232	43	2	3546	2	CUBN	10	16955938	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	429430	16955938	118578809	1253	14525											
CUBN	8029	genome.wustl.edu	37	chr10	16960740	16960740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgtcccacaaaatttgGaaagtattggtgcatccgaa	9	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:16960740G>A	ENST00000377833.4	-	45	6946	c.6881C>T	c.(6880-6882)tCc>tTc	p.S2294F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2294	CUB 16. {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)			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)	ACAAAATTTGGAAAGTATTGG	0.448																																																	0								ENSG00000107611						83	70	74					10																	16960740		2203	4300	6503	CUBN	SO:0001583	missense	0			-	HGNC	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.6881C>T	10.37:g.16960740G>A	ENSP00000367064:p.Ser2294Phe	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	68	35.24	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.S2294F	ENST00000377833.4	37	c.6881	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526751	0.44969	.	.	ENSG00000107611	ENST00000377833	T	0.18657	2.2	5.6	4.7	0.59300	CUB (5);	0.158894	0.29980	N	0.010719	T	0.32526	0.0832	L	0.45581	1.43	0.80722	D	1	P	0.48694	0.914	P	0.53861	0.736	T	0.03514	-1.1029	10	0.56958	D	0.05	.	14.1376	0.65297	0.0715:0.0:0.9285:0.0	.	2294	O60494	CUBN_HUMAN	F	2294	ENSP00000367064:S2294F	ENSP00000367064:S2294F	S	-	2	0	CUBN	17000746	1.000000	0.71417	0.368000	0.25939	0.083000	0.17756	4.957000	0.63652	1.361000	0.45981	0.650000	0.86243	TCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	G	NM_001081	-		16960740	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	SNP	0.994	A	A	16960740	G	A	16960740	3	1	196	1	0	0	0	0	1	0	0	0	4053	1174	41	2	4082	2	CUBN	10	16960740	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4802	16960740	118574007	1254	14526											
MRC1	4360	genome.wustl.edu	37	chr10	17921739	17921739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcttttccagttggatGgatggaagcaaagtggatta	11	4	1	0	rs372586729		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:17921739G>A	ENST00000331429.2	+	19	2728	c.2625G>A	c.(2623-2625)atG>atA	p.M875I																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGTTGGATGGATGGAAGCA	0.438																																																	0								ENSG00000183748	G		11,4035		1,9,2013	10	9	9			3	1	10		9	0,8080		0,0,4040	no	intergenic				1,9,6053	AA,AG,GG		0.0,0.2719,0.0907			17921739	11,12115	2023	4040	6063	MRC1L1	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000331429.2:c.2625G>A	10.37:g.17921739G>A	ENSP00000332124:p.Met875Ile	Somatic	0	23	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50		Missense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.M875I	ENST00000331429.2	37	c.2625		10	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120955	0.37436	0.002719	0.0	ENSG00000183748	ENST00000331429	T	0.15017	2.46	3.85	2.95	0.34219	.	0.000000	0.64402	D	0.000001	T	0.09818	0.0241	.	.	.	0.28103	N	0.931334	B	0.24186	0.099	B	0.30646	0.118	T	0.23583	-1.0184	8	0.08381	T	0.77	-15.3276	10.2968	0.43629	0.1004:0.0:0.8996:0.0	.	875	B9EJA8	.	I	875	ENSP00000332124:M875I	ENSP00000332124:M875I	M	+	3	0	AL928580.1	17961745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.336000	0.52113	0.827000	0.34685	0.508000	0.49915	ATG	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.438	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	101928757	protein_coding	OTTHUMT00000047054.1	G		-		17921739	1	no_errors	ENST00000331429	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	17921739	G	A	17921739	3	1	196	1	0	0	0	0	1	0	0	0	9758	1348	47	2	2699	2	MRC1	10	17921739	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	960999	17921739	117613008	1255	14527											
CACNB2	783	genome.wustl.edu	37	chr10	18827133	18827133	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttcgatgtgatcttggatGagaaccagcttgaggatgcc	13	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:18827133G>A	ENST00000324631.7	+	13	1387	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	CACNB2_ENST00000396576.2_Missense_Mutation_p.E388K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E389K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E350K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E419K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E415K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E395K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.E193K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E391K	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	443					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCTTGGATGAGAACCAGCT	0.567																																																	0								ENSG00000165995						170	150	157					10																	18827133		2203	4300	6503	CACNB2	SO:0001583	missense	0			-	HGNC	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1327G>A	10.37:g.18827133G>A	ENSP00000320025:p.Glu443Lys	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	64	24.71	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.E443K	ENST00000324631.7	37	c.1327	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.768476	0.96914	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;T;D;D;D;D;D;D	0.83075	-1.68;-1.68;0.95;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.6	5.6	0.85130	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92123	0.7503	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.989;0.971;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;0.999;0.989	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.954;0.991;0.999;1.0;0.989;1.0;0.951;1.0;0.999;0.997;0.997;0.954	D	0.92393	0.5923	10	0.62326	D	0.03	-21.7914	19.6154	0.95632	0.0:0.0:1.0:0.0	.	357;415;193;395;365;389;399;350;391;415;405;419;443	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	K	443;419;193;415;391;388;350;389;395	ENSP00000320025:E443K;ENSP00000344474:E419K;ENSP00000366545:E193K;ENSP00000282343:E415K;ENSP00000366548:E391K;ENSP00000379821:E388K;ENSP00000366536:E350K;ENSP00000366546:E389K;ENSP00000366532:E395K	ENSP00000282343:E415K	E	+	1	0	CACNB2	18867139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.652000	0.90054	0.650000	0.86243	GAG	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu		0.567	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	protein_coding	OTTHUMT00000047072.2	G	NM_000724	-		18827133	1	no_errors	ENST00000324631	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18827133	G	A	18827133	3	1	196	1	0	0	0	0	1	0	0	0	2555	1291	45	2	1687	2	CACNB2	10	18827133	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	905394	18827133	116707614	1256	14528											
KIAA1217	56243	genome.wustl.edu	37	chr10	24833274	24833274	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaagccctagttgatacctCatgttcttccaacagagatt	6	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:24833274C>A	ENST00000376454.3	+	19	5105	c.5075C>A	c.(5074-5076)tCa>tAa	p.S1692*	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.S1375*|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1692					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						GTTGATACCTCATGTTCTTCC	0.473																																																	0								ENSG00000120549						110	108	109					10																	24833274		2203	4300	6503	KIAA1217	SO:0001587	stop_gained	0			-	HGNC	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.5075C>A	10.37:g.24833274C>A	ENSP00000365637:p.Ser1692*	Somatic	0	45	0		0.52429534266604	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP							pfam_AIP3_C	p.S1692*	ENST00000376454.3	37	c.5075	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.371984	0.98241	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000376451	.	.	.	4.98	4.07	0.47477	.	1.043970	0.07595	N	0.922626	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1885	0.37184	0.0:0.8385:0.0:0.1615	.	.	.	.	X	1375;1692;1375	.	ENSP00000365634:S1375X	S	+	2	0	KIAA1217	24873280	0.009000	0.17119	0.006000	0.13384	0.028000	0.11728	2.333000	0.43912	2.310000	0.77875	0.655000	0.94253	TCA	-	NULL		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	C	NM_019590	-		24833274	1	no_errors	ENST00000376454	ensembl	human	known	74_37	nonsense	SNP	0.011	A	A	24833274	C	A	24833274	4	1	196	1	0	0	0	0	0	1	0	0	8218	838	29	3	5149	3	KIAA1217	10	24833274	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6006141	24833274	110701473	1257	14529											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24874032	24874032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcaaacactttagttaacGaaggtgcttctttctcattc	5	10	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:24874032G>A	ENST00000396432.2	-	26	5672	c.5186C>T	c.(5185-5187)tCg>tTg	p.S1729L		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1728	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTAGTTAACGAAGGTGCTTC	0.403																																																	0								ENSG00000107863						120	123	122					10																	24874032		2202	4299	6501	ARHGAP21	SO:0001583	missense	0			-	HGNC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5186C>T	10.37:g.24874032G>A	ENSP00000379709:p.Ser1729Leu	Somatic	0	98	0		0.52429534266604	26	35	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	66	21.43	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S1729L	ENST00000396432.2	37	c.5186	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	8.811	0.935146	0.18206	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.11277	2.79	5.07	5.07	0.68467	.	0.552055	0.18328	N	0.144581	T	0.15825	0.0381	L	0.56769	1.78	0.80722	D	1	B	0.24426	0.103	B	0.19666	0.026	T	0.02705	-1.1121	10	0.52906	T	0.07	.	18.4491	0.90696	0.0:0.0:1.0:0.0	.	1728	Q5T5U3	RHG21_HUMAN	L	1729;1178	ENSP00000379709:S1729L	ENSP00000379709:S1729L	S	-	2	0	ARHGAP21	24914038	0.983000	0.35010	0.068000	0.19968	0.049000	0.14656	6.125000	0.71627	2.332000	0.79248	0.591000	0.81541	TCG	-	NULL		0.403	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	G	NM_020824	-		24874032	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	SNP	0.926	A	A	24874032	G	A	24874032	3	1	196	1	0	0	0	0	1	0	0	0	871	1059	37	1	694	1	ARHGAP21	10	24874032	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	40758	24874032	110660715	1258	14530											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24889637	24889637	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctagcatatcatctctgtCttcagcctgaaacaggcatt	7	11	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:24889637C>T	ENST00000396432.2	-	14	3556	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D811N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1023	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCATCTCTGTCTTCAGCCTGA	0.458																																																	0								ENSG00000107863						147	137	140					10																	24889637		2203	4300	6503	ARHGAP21	SO:0001583	missense	0			-	HGNC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3070G>A	10.37:g.24889637C>T	ENSP00000379709:p.Asp1024Asn	Somatic	0	102	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	44	47.62	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D1024N	ENST00000396432.2	37	c.3070	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710496	0.89018	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095285	0.64402	D	0.000001	D	0.86209	0.5878	L	0.35644	1.08	0.53688	D	0.999976	P;D	0.76494	0.947;0.999	P;D	0.76071	0.906;0.987	D	0.84363	0.0539	10	0.41790	T	0.15	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1014;1023	F8W9U9;Q5T5U3	.;RHG21_HUMAN	N	1024;811;1014;1024;859	ENSP00000379709:D1024N;ENSP00000365604:D811N;ENSP00000365592:D1014N;ENSP00000405018:D1024N	ENSP00000365604:D811N	D	-	1	0	ARHGAP21	24929643	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	6.041000	0.70988	2.865000	0.98341	0.655000	0.94253	GAC	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	C	NM_020824	-		24889637	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24889637	C	T	24889637	3	4	196	1	0	0	0	0	1	0	0	0	871	913	32	2	2858	2	ARHGAP21	10	24889637	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	15605	24889637	110645110	1259	14531											
GPR158	57512	genome.wustl.edu	37	chr10	25887096	25887096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagacaacagaaaattcCacactggaatccctgtcggg	11	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:25887096C>T	ENST00000376351.3	+	11	2900	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	847					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGAAAATTCCACACTGGAAT	0.488																																																	0								ENSG00000151025						106	116	112					10																	25887096		2203	4300	6503	GPR158	SO:0001819	synonymous_variant	0			-	HGNC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2541C>T	10.37:g.25887096C>T		Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	Q6QR81|Q9ULT3	Silent	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.S847	ENST00000376351.3	37	c.2541	CCDS31166.1	10																																																																																			-	NULL		0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	C	XM_166110	-		25887096	1	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	SNP	0.368	T	T	25887096	C	T	25887096	2	4	196	1	0	0	0	0	0	0	0	1	6665	581	21	2		2	GPR158	10	25887096	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	997459	25887096	109647651	1260	14532											
GPR158	57512	genome.wustl.edu	37	chr10	25887658	25887658	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtatctattgtggcttctGaaatggagaaaaaccccact	8	9	2	2	rs139042739	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:25887658G>A	ENST00000376351.3	+	11	3462	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1035					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTGGCTTCTGAAATGGAGAA	0.453																																																	0								ENSG00000151025	G	LYS/GLU	7,4399	12.9+/-30.5	0,7,2196	68	67	68		3103	4.4	1	10	dbSNP_134	68	0,8600		0,0,4300	yes	missense	GPR158	NM_020752.2	56	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	1035/1216	25887658	7,12999	2203	4300	6503	GPR158	SO:0001583	missense	0			-	HGNC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3103G>A	10.37:g.25887658G>A	ENSP00000365529:p.Glu1035Lys	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q6QR81|Q9ULT3	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.E1035K	ENST00000376351.3	37	c.3103	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111290	0.56398	0.001589	0.0	ENSG00000151025	ENST00000376351	T	0.33865	1.39	5.27	4.37	0.52481	.	0.152932	0.44688	D	0.000438	T	0.38506	0.1043	M	0.66939	2.045	0.31578	N	0.655438	P	0.40834	0.73	B	0.38803	0.282	T	0.52801	-0.8527	10	0.49607	T	0.09	.	14.0565	0.64772	0.073:0.0:0.927:0.0	.	1035	Q5T848	GP158_HUMAN	K	1035	ENSP00000365529:E1035K	ENSP00000365529:E1035K	E	+	1	0	GPR158	25927664	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	6.778000	0.75043	1.198000	0.43158	0.655000	0.94253	GAA	-	NULL		0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	G	XM_166110	rs139042739		25887658	1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25887658	G	A	25887658	3	1	196	1	0	0	0	0	1	0	0	0	6665	1291	45	2	3145	2	GPR158	10	25887658	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	562	25887658	109647089	1261	14533											
ARMC4	55130	genome.wustl.edu	37	chr10	28270465	28270465	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgacaaggtttttataaattGaaccttttctctcataatta	4	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:28270465G>A	ENST00000305242.5	-	7	958	c.866C>T	c.(865-867)tCa>tTa	p.S289L	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.S146L|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	289					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTATAAATTGAACCTTTTCT	0.284																																																	0								ENSG00000169126						95	100	99					10																	28270465		2201	4294	6495	ARMC4	SO:0001583	missense	0			-	HGNC	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.866C>T	10.37:g.28270465G>A	ENSP00000306410:p.Ser289Leu	Somatic	0	119	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	97	19.17	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.S289L	ENST00000305242.5	37	c.866	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293723	0.23564	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.46451	1.46;0.88;0.87	5.01	-2.16	0.07080	.	0.416445	0.27358	N	0.019729	T	0.22166	0.0534	N	0.14661	0.345	0.18873	N	0.999983	B	0.25441	0.126	B	0.21360	0.034	T	0.12708	-1.0537	10	0.72032	D	0.01	-7.9347	10.5909	0.45308	0.107:0.0:0.5167:0.3763	.	289	Q5T2S8	ARMC4_HUMAN	L	289;183;146	ENSP00000306410:S289L;ENSP00000398155:S183L;ENSP00000239715:S146L	ENSP00000239715:S146L	S	-	2	0	ARMC4	28310471	0.978000	0.34361	0.001000	0.08648	0.376000	0.30014	1.843000	0.39259	-0.587000	0.05890	-0.274000	0.10170	TCA	-	superfamily_GSKIP_dom		0.284	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	protein_coding	OTTHUMT00000047339.1	G	NM_018076	-		28270465	-1	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	SNP	0.389	A	A	28270465	G	A	28270465	3	1	196	1	0	0	0	0	1	0	0	0	953	1294	45	2	2324	2	ARMC4	10	28270465	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2382807	28270465	107264282	1262	14534											
SVIL	6840	genome.wustl.edu	37	chr10	29839542	29839542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgggtcgggcctcagGggatagctgtgggtcaccaa	15	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:29839542G>A	ENST00000355867.4	-	6	1563	c.811C>T	c.(811-813)Cct>Tct	p.P271S	SVIL_ENST00000375398.2_Missense_Mutation_p.P271S|SVIL_ENST00000375400.3_Missense_Mutation_p.P271S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	271					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.P271T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGGCCTCAGGGGATAGCTGT	0.597																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000197321						28	34	32					10																	29839542		2198	4295	6493	SVIL	SO:0001583	missense	0			-	HGNC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.811C>T	10.37:g.29839542G>A	ENSP00000348128:p.Pro271Ser	Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	58	42.00	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.P271S	ENST00000355867.4	37	c.811	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127046	0.01770	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.39406	1.3;1.08;1.08	5.28	-10.6	0.00265	.	1.495500	0.03578	N	0.229639	T	0.10078	0.0247	N	0.00841	-1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.15065	-1.0450	9	.	.	.	0.0923	3.4662	0.07550	0.135:0.1583:0.1881:0.5186	.	271;271	O95425-2;O95425	.;SVIL_HUMAN	S	271	ENSP00000364549:P271S;ENSP00000364547:P271S;ENSP00000348128:P271S	.	P	-	1	0	SVIL	29879548	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.608000	0.02068	-3.239000	0.00207	-2.033000	0.00422	CCT	-	NULL		0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	protein_coding	OTTHUMT00000047395.1	G		-		29839542	-1	no_errors	ENST00000355867	ensembl	human	known	74_37	missense	SNP	0.000	A	A	29839542	G	A	29839542	3	1	196	1	0	0	0	0	1	0	0	0	15428	1232	43	2	5965	2	SVIL	10	29839542	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1569077	29839542	105695205	1263	14535											
ZEB1	6935	genome.wustl.edu	37	chr10	31810575	31810575	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaagaacccttgaacttgtCttgcgcaaaaaaggagccac	10	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:31810575C>T	ENST00000320985.10	+	7	2422	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	ZEB1_ENST00000361642.5_Missense_Mutation_p.S772F|ZEB1_ENST00000542815.3_Missense_Mutation_p.S704F|ZEB1_ENST00000446923.2_Missense_Mutation_p.S755F|ZEB1_ENST00000560721.2_Missense_Mutation_p.S751F|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	771					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGAACTTGTCTTGCGCAAAA	0.408																																					Ovarian(40;423 959 14296 36701 49589)												0								ENSG00000148516						105	95	99					10																	31810575		2203	4300	6503	ZEB1	SO:0001583	missense	0			-	HGNC	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2312C>T	10.37:g.31810575C>T	ENSP00000319248:p.Ser771Phe	Somatic	0	54	0		0.52429534266604	10	16.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	38	40.62	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S772F	ENST00000320985.10	37	c.2315	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708241	0.68615	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12569	2.98;2.68;2.72;2.67;2.73	5.3	5.3	0.74995	.	0.358916	0.21037	N	0.081229	T	0.29817	0.0745	L	0.60455	1.87	0.54753	D	0.999985	P;P;P;P;P;P;P;P	0.51147	0.942;0.937;0.938;0.938;0.895;0.836;0.938;0.938	P;P;P;P;P;P;P;P	0.53809	0.713;0.735;0.603;0.548;0.603;0.52;0.603;0.548	T	0.01146	-1.1437	10	0.87932	D	0	-12.7468	19.3232	0.94250	0.0:1.0:0.0:0.0	.	704;771;755;771;771;751;772;771	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	F	553;771;772;704;771;751;662;755	ENSP00000444282:S553F;ENSP00000354487:S772F;ENSP00000444891:S704F;ENSP00000319248:S771F;ENSP00000391612:S755F	ENSP00000319248:S771F	S	+	2	0	ZEB1	31850581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.633000	0.89246	0.650000	0.86243	TCT	-	NULL		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	protein_coding	OTTHUMT00000419083.2	C	NM_030751	-		31810575	1	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31810575	C	T	31810575	3	4	196	1	0	0	0	0	1	0	0	0	17630	913	32	2	2352	2	ZEB1	10	31810575	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1971033	31810575	103724172	1264	14536											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37447469	37447469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggaatgaaagtttctattCcaactaaagccttagaattg	8	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:37447469C>T	ENST00000602533.1	+	15	1786	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P563S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P563S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	619					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						AGTTTCTATTCCAACTAAAGC	0.289																																																	0								ENSG00000148513						110	101	103					10																	37447469		1799	4074	5873	ANKRD30A	SO:0001583	missense	0			-	HGNC	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	ENST00000602533.1:c.1687C>T	10.37:g.37447469C>T	ENSP00000473551:p.Pro563Ser	Somatic	0	265	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	239	16.38	Q5W025	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P563S	ENST00000602533.1	37	c.1687		10	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.579507	0.00879	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06142	3.34;3.34	1.59	1.59	0.23543	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	D	0.54601	0.967	P	0.62382	0.901	T	0.16453	-1.0402	9	0.05436	T	0.98	.	6.5982	0.22685	0.0:1.0:0.0:0.0	.	619	Q9BXX3	AN30A_HUMAN	S	563	ENSP00000354432:P563S;ENSP00000363792:P563S	ENSP00000354432:P563S	P	+	1	0	ANKRD30A	37487475	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	0.640000	0.24705	1.172000	0.42781	0.390000	0.25778	CCA	-	NULL		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	protein_coding	OTTHUMT00000047588.2	C	NM_052997	-		37447469	1	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	SNP	0.014	T	T	37447469	C	T	37447469	3	4	196	1	0	0	0	0	1	0	0	0	658	855	30	2	1745	2	ANKRD30A	10	37447469	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5636894	37447469	98087278	1265	14537											
GDF2	2658	genome.wustl.edu	37	chr10	48416392	48416392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttggacgctggcgtagtcGacttatcggacgtgtacctg	14	9	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:48416392G>A	ENST00000249598.1	-	1	461	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	101					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TGGCGTAGTCGACTTATCGGA	0.592																																																	0								ENSG00000128802						114	91	99					10																	48416392		2203	4300	6503	GDF2	SO:0001583	missense	0			-	HGNC	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.302C>T	10.37:g.48416392G>A	ENSP00000249598:p.Ser101Leu	Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	58	20.55	Q5VSQ9|Q9Y571	Missense_Mutation	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.S101L	ENST00000249598.1	37	c.302	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183092	0.57800	.	.	ENSG00000128802	ENST00000249598	T	0.67171	-0.25	5.37	5.37	0.77165	Transforming growth factor-beta, N-terminal (1);	0.335009	0.33161	N	0.005213	T	0.65004	0.2650	M	0.71581	2.175	0.41890	D	0.990366	P	0.36768	0.569	B	0.32149	0.141	T	0.65080	-0.6255	10	0.25106	T	0.35	.	18.4454	0.90682	0.0:0.0:1.0:0.0	.	101	Q9UK05	GDF2_HUMAN	L	101	ENSP00000249598:S101L	ENSP00000249598:S101L	S	-	2	0	GDF2	48036398	1.000000	0.71417	0.578000	0.28575	0.046000	0.14306	6.365000	0.73090	2.676000	0.91093	0.655000	0.94253	TCG	-	pfam_TGF-b_N		0.592	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	protein_coding	OTTHUMT00000047891.1	G	NM_016204	-		48416392	-1	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	SNP	0.755	A	A	48416392	G	A	48416392	3	1	196	1	0	0	0	0	1	0	0	0	6316	1059	37	1	995	1	GDF2	10	48416392	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10968923	48416392	87118355	1266	14538											
C10orf71	118461	genome.wustl.edu	37	chr10	50531798	50531798	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttagaagaaaagacacAgaccaaccagagaggcccac	8	11	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:50531798A>C	ENST00000374144.3	+	3	1496	c.1208A>C	c.(1207-1209)cAg>cCg	p.Q403P	C10orf71_ENST00000323868.4_Missense_Mutation_p.Q403P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	403										endometrium(1)	1						GAAAAGACACAGACCAACCAG	0.463																																																	0								ENSG00000177354						111	113	112					10																	50531798		1870	4104	5974	C10orf71	SO:0001583	missense	0			-	HGNC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1208A>C	10.37:g.50531798A>C	ENSP00000363259:p.Gln403Pro	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A0AVL8	Missense_Mutation	SNP							NULL	p.Q403P	ENST00000374144.3	37	c.1208	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	A	8.057	0.767337	0.15983	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.15139	2.45;3.57	5.64	1.95	0.26073	.	0.441183	0.16877	N	0.195870	T	0.16428	0.0395	L	0.57536	1.79	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.18999	-1.0319	10	0.35671	T	0.21	.	8.8199	0.35018	0.5736:0.3622:0.0642:0.0	.	403	Q711Q0-3	.	P	403	ENSP00000318713:Q403P;ENSP00000363259:Q403P	ENSP00000318713:Q403P	Q	+	2	0	C10orf71	50201804	0.018000	0.18449	0.006000	0.13384	0.004000	0.04260	1.156000	0.31712	0.081000	0.16988	-0.316000	0.08728	CAG	-	NULL		0.463	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	A	NM_199459	-		50531798	1	no_errors	ENST00000374144	ensembl	human	known	74_37	missense	SNP	0.000	C	C	50531798	A	C	50531798	3	2	196	1	0	0	0	0	1	0	0	0	1616	188	7	5	1210	5	C10orf71	10	50531798	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2115406	50531798	85002949	1267	14539											
PGBD3	267004	genome.wustl.edu	37	chr10	50724596	50724596	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactgagacataaccactcaGaaaaataattcccagaaaac	4	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:50724596G>A	ENST00000374127.3	-	2	766	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.L657L|PGBD3_ENST00000508005.2_Silent_p.L189L|ERCC6-PGBD3_ENST00000515869.1_Silent_p.L657L|PGBD3_ENST00000603152.1_Silent_p.L657L	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	189										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TAACCACTCAGAAAAATAATT	0.403																																																	0								ENSG00000243251						69	74	72					10																	50724596		2203	4300	6503	PGBD3	SO:0001819	synonymous_variant	0			-	HGNC	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.565C>T	10.37:g.50724596G>A		Somatic	0	35	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP							NULL	p.L657	ENST00000374127.3	37	c.1969	CCDS7230.1	10																																																																																			-	NULL		0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	protein_coding	OTTHUMT00000047988.1	G		-		50724596	-1	no_errors	ENST00000603152	ensembl	human	known	74_37	silent	SNP	0.447	A	A	50724596	G	A	50724596	2	1	196	1	0	0	0	0	0	0	0	1	11784	933	33	2		2	PGBD3	10	50724596	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	192798	50724596	84810151	1268	14540											
OGDHL	55753	genome.wustl.edu	37	chr10	50944182	50944182	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctccgcacctgggtacttCtctgcctcctgcttgatcag	9	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:50944182C>T	ENST00000374103.4	-	22	2881	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	OGDHL_ENST00000432695.1_Silent_p.E723E|OGDHL_ENST00000419399.1_Silent_p.E875E|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	932					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						CTGGGTACTTCTCTGCCTCCT	0.587																																																	0								ENSG00000197444						75	63	67					10																	50944182		2203	4300	6503	OGDHL	SO:0001819	synonymous_variant	0			-	HGNC	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.2796G>A	10.37:g.50944182C>T		Somatic	0	25	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP							pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.E932	ENST00000374103.4	37	c.2796	CCDS7234.1	10																																																																																			-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	C	NM_018245	-		50944182	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	silent	SNP	1.000	T	T	50944182	C	T	50944182	2	4	196	1	0	0	0	0	0	0	0	1	10842	912	32	2		2	OGDHL	10	50944182	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	219586	50944182	84590565	1269	14541											
PCDH15	65217	genome.wustl.edu	37	chr10	55583083	55583083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgagactgagttatttCccctgctttgttgaaaatgg	9	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:55583083C>T	ENST00000320301.6	-	33	4797	c.4403G>A	c.(4402-4404)gGa>gAa	p.G1468E	PCDH15_ENST00000395433.1_Missense_Mutation_p.G1445E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1399E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1428E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1470E|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1465E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1468					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)				TGAGTTATTTCCCCTGCTTTG	0.383										HNSCC(58;0.16)																																							0								ENSG00000150275						109	110	109					10																	55583083		2203	4300	6503	PCDH15	SO:0001583	missense	0			-	HGNC	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.4403G>A	10.37:g.55583083C>T	ENSP00000322604:p.Gly1468Glu	Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.71	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1468E	ENST00000320301.6	37	c.4403	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511496	0.44660	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57907	0.4;0.37;0.41;0.38;0.37;0.39	6.02	4.16	0.48862	.	.	.	.	.	T	0.50514	0.1620	M	0.63843	1.955	0.38404	D	0.945743	B;B;B;B;B;B;B;B	0.21821	0.061;0.012;0.012;0.012;0.005;0.012;0.061;0.012	B;B;B;B;B;B;B;B	0.29440	0.102;0.009;0.009;0.009;0.009;0.013;0.102;0.009	T	0.47849	-0.9085	9	0.30854	T	0.27	.	11.2756	0.49165	0.0:0.8493:0.0:0.1507	.	1445;1468;1470;1475;1399;1428;1465;1468	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	E	1428;1470;1445;1468;1465;1475;1399	ENSP00000378820:G1428E;ENSP00000354950:G1470E;ENSP00000378821:G1445E;ENSP00000322604:G1468E;ENSP00000378818:G1465E;ENSP00000412628:G1399E	ENSP00000322604:G1468E	G	-	2	0	PCDH15	55253089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.277000	0.51654	0.846000	0.35142	0.650000	0.86243	GGA	-	NULL		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	C	NM_033056	-		55583083	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55583083	C	T	55583083	3	4	196	1	0	0	0	0	1	0	0	0	11513	855	30	2	3074	2	PCDH15	10	55583083	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4638901	55583083	79951664	1270	14542											
PCDH15	65217	genome.wustl.edu	37	chr10	55719580	55719580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacatcacaggctcccCatcatcaaaagcaaccacca	6	16	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:55719580C>T	ENST00000320301.6	-	23	3428	c.3034G>A	c.(3034-3036)Ggg>Agg	p.G1012R	PCDH15_ENST00000395433.1_Missense_Mutation_p.G990R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G941R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G975R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1012R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G623R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.G1019R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1017R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1012R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1012R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1019R|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1012	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				ACAGGCTCCCCATCATCAAAA	0.383										HNSCC(58;0.16)																																							0								ENSG00000150275						84	76	79					10																	55719580		2203	4300	6503	PCDH15	SO:0001583	missense	0			-	HGNC	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.3034G>A	10.37:g.55719580C>T	ENSP00000322604:p.Gly1012Arg	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	32.31	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1012R	ENST00000320301.6	37	c.3034	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319031	0.81469	.	.	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	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69913	0.3164	H	0.96048	3.76	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;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.997	T	0.80476	-0.1366	9	0.87932	D	0	.	18.1451	0.89652	0.0:1.0:0.0:0.0	.	990;1012;1012;1017;941;975;1012;1012;1019;1019;1012;1017;1012	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	1019;1017;1012;1012;623;1019;975;1012;990;1012;1012;1017;941	ENSP00000363076:G1019R;ENSP00000410304:G1017R;ENSP00000378826:G1012R;ENSP00000386693:G623R;ENSP00000378832:G1019R;ENSP00000378820:G975R;ENSP00000354950:G1012R;ENSP00000378821:G990R;ENSP00000322604:G1012R;ENSP00000378818:G1012R;ENSP00000412628:G941R	ENSP00000322604:G1012R	G	-	1	0	PCDH15	55389586	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.327000	0.72910	2.582000	0.87167	0.585000	0.79938	GGG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	C	NM_033056	-		55719580	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55719580	C	T	55719580	3	4	196	1	0	0	0	0	1	0	0	0	11513	594	21	2	4496	2	PCDH15	10	55719580	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	136497	55719580	79815167	1271	14543											
BICC1	80114	genome.wustl.edu	37	chr10	60573665	60573665	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgaatctgataactggagaGaccgaaatggaattggacct	12	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:60573665G>A	ENST00000373886.3	+	18	2456	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	BICC1_ENST00000263103.1_Missense_Mutation_p.D444N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	818					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAACTGGAGAGACCGAAATGG	0.458																																																	0								ENSG00000122870						185	169	174					10																	60573665		2203	4300	6503	BICC1	SO:0001583	missense	0			-	HGNC	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2452G>A	10.37:g.60573665G>A	ENSP00000362993:p.Asp818Asn	Somatic	0	101	0		0.52429534266604	2	71.43	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	79	43.57		Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.D818N	ENST00000373886.3	37	c.2452	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946565	0.73672	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.58060	1.3;0.36	6.03	5.12	0.69794	.	0.190889	0.56097	D	0.000036	T	0.43897	0.1268	L	0.34521	1.04	0.48901	D	0.999724	B;B	0.32573	0.376;0.1	B;B	0.30401	0.115;0.054	T	0.45644	-0.9247	10	0.72032	D	0.01	-13.7557	15.161	0.72785	0.0:0.0:0.8589:0.1411	.	738;818	E7EU62;Q9H694	.;BICC1_HUMAN	N	818;444	ENSP00000362993:D818N;ENSP00000263103:D444N	ENSP00000263103:D444N	D	+	1	0	BICC1	60243671	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.707000	0.98725	1.546000	0.49388	0.655000	0.94253	GAC	-	NULL		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	protein_coding	OTTHUMT00000048150.2	G	NM_025044	-		60573665	1	no_errors	ENST00000373886	ensembl	human	known	74_37	missense	SNP	1.000	A	A	60573665	G	A	60573665	3	1	196	1	0	0	0	0	1	0	0	0	1427	942	33	2	2522	2	BICC1	10	60573665	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4854085	60573665	74961082	1272	14544											
ANK3	288	genome.wustl.edu	37	chr10	61830270	61830270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttactttggctaaaagagcGgtcagctggcttcagaatgc	11	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:61830270G>T	ENST00000280772.2	-	37	10560	c.10369C>A	c.(10369-10371)Cgc>Agc	p.R3457S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3457					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)			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						CTAAAAGAGCGGTCAGCTGGC	0.438																																																	0								ENSG00000151150						89	84	86					10																	61830270		2203	4300	6503	ANK3	SO:0001583	missense	0			-	HGNC	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.10369C>A	10.37:g.61830270G>T	ENSP00000280772:p.Arg3457Ser	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R3457S	ENST00000280772.2	37	c.10369	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108664	0.77096	.	.	ENSG00000151150	ENST00000280772	T	0.26067	1.76	5.49	5.49	0.81192	.	0.000000	0.42964	D	0.000634	T	0.45155	0.1328	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.08066	-1.0740	10	0.23891	T	0.37	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	3457	Q12955	ANK3_HUMAN	S	3457	ENSP00000280772:R3457S	ENSP00000280772:R3457S	R	-	1	0	ANK3	61500276	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.515000	0.98015	2.584000	0.87258	0.563000	0.77884	CGC	-	NULL		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987	-		61830270	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61830270	G	T	61830270	3	4	196	1	0	0	0	0	1	0	0	0	622	1116	39	3	3105	3	ANK3	10	61830270	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1256605	61830270	73704477	1273	14545											
ANK3	288	genome.wustl.edu	37	chr10	61834561	61834561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttggtcaagttataatcCttttcggaggcggcttttgc	10	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:61834561C>T	ENST00000280772.2	-	37	6269	c.6078G>A	c.(6076-6078)aaG>aaA	p.K2026K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2026					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)			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						AGTTATAATCCTTTTCGGAGG	0.428																																																	0								ENSG00000151150						84	85	85					10																	61834561		2203	4300	6503	ANK3	SO:0001819	synonymous_variant	0			-	HGNC	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.6078G>A	10.37:g.61834561C>T		Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.K2026	ENST00000280772.2	37	c.6078	CCDS7258.1	10																																																																																			-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	C	NM_020987	-		61834561	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	SNP	1.000	T	T	61834561	C	T	61834561	2	4	196	1	0	0	0	0	0	0	0	1	622	680	24	2		2	ANK3	10	61834561	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4291	61834561	73700186	1274	14546											
CTNNA3	29119	genome.wustl.edu	37	chr10	68139051	68139051	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcagcacggtctaaattatCagcatcctggtctcttaagg	9	11	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:68139051C>T	ENST00000433211.2	-	12	1765	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D531N	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						TCTAAATTATCAGCATCCTGG	0.463																																																	0								ENSG00000183230						123	122	122					10																	68139051		2203	4300	6503	CTNNA3	SO:0001583	missense	0			-	HGNC	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.1591G>A	10.37:g.68139051C>T	ENSP00000389714:p.Asp531Asn	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	48	21.31		Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D531N	ENST00000433211.2	37	c.1591	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910711	0.92107	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37235	1.21;1.21	5.77	5.77	0.91146	.	0.216900	0.31210	N	0.008057	T	0.50446	0.1616	M	0.75085	2.285	0.80722	D	1	P	0.40578	0.722	P	0.46510	0.519	T	0.48258	-0.9051	10	0.46703	T	0.11	-11.3642	17.477	0.87661	0.0:1.0:0.0:0.0	.	531	Q9UI47	CTNA3_HUMAN	N	531	ENSP00000389714:D531N;ENSP00000362849:D531N	ENSP00000362849:D531N	D	-	1	0	CTNNA3	67809057	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.792000	0.85828	2.728000	0.93425	0.650000	0.86243	GAT	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.463	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	C	NM_013266	-		68139051	-1	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68139051	C	T	68139051	3	4	196	1	0	0	0	0	1	0	0	0	4016	826	29	2	1124	2	CTNNA3	10	68139051	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6304490	68139051	67395696	1275	14547											
CTNNA3	29119	genome.wustl.edu	37	chr10	68979616	68979616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttcatctctctgatttgGagattttaagtcctgagaag	8	6	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:68979616G>A	ENST00000433211.2	-	6	766	c.592C>T	c.(592-594)Cca>Tca	p.P198S	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P198S|CTNNA3_ENST00000545309.1_Missense_Mutation_p.P198S	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						CTCTGATTTGGAGATTTTAAG	0.368																																																	0								ENSG00000183230						60	64	63					10																	68979616		2203	4300	6503	CTNNA3	SO:0001583	missense	0			-	HGNC	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.592C>T	10.37:g.68979616G>A	ENSP00000389714:p.Pro198Ser	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.82		Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.P198S	ENST00000433211.2	37	c.592	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705680	0.30232	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.37411	1.2;1.2;1.2	5.33	3.3	0.37823	.	0.483410	0.17409	N	0.175245	T	0.21801	0.0525	N	0.12961	0.28	0.39623	D	0.970059	B;B;B;B	0.31705	0.166;0.336;0.272;0.336	B;B;B;B	0.37833	0.175;0.259;0.152;0.15	T	0.11397	-1.0589	10	0.54805	T	0.06	-4.2546	3.4624	0.07537	0.0916:0.1725:0.5573:0.1785	.	198;198;198;198	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	S	198	ENSP00000389714:P198S;ENSP00000362849:P198S;ENSP00000441444:P198S	ENSP00000362849:P198S	P	-	1	0	CTNNA3	68649622	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.201000	0.32259	1.191000	0.43056	0.591000	0.81541	CCA	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	G	NM_013266	-		68979616	-1	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68979616	G	A	68979616	3	1	196	1	0	0	0	0	1	0	0	0	4016	1174	41	2	2147	2	CTNNA3	10	68979616	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	840565	68979616	66555131	1276	14548											
SIRT1	23411	genome.wustl.edu	37	chr10	69648754	69648754	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggatgatatgacactgtGgcagattgttattaatatcc	10	5	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:69648754G>A	ENST00000212015.6	+	3	715	c.662G>A	c.(661-663)tGg>tAg	p.W221*	SIRT1_ENST00000432464.1_Intron|SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	221	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATGACACTGTGGCAGATTGTT	0.353																																																	0								ENSG00000096717						76	74	75					10																	69648754		2203	4300	6503	SIRT1	SO:0001587	stop_gained	0			-	HGNC	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.662G>A	10.37:g.69648754G>A	ENSP00000212015:p.Trp221*	Somatic	0	101	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	64	25.29	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Nonsense_Mutation	SNP							pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.W221*	ENST00000212015.6	37	c.662	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.865243	0.97043	.	.	ENSG00000096717	ENST00000212015	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0053	19.2325	0.93846	0.0:0.0:1.0:0.0	.	.	.	.	X	221	.	ENSP00000212015:W221X	W	+	2	0	SIRT1	69318760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.639000	0.89480	0.655000	0.94253	TGG	-	NULL		0.353	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	protein_coding	OTTHUMT00000048296.1	G		-		69648754	1	no_errors	ENST00000212015	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	69648754	G	A	69648754	4	1	196	1	0	0	0	0	0	1	0	0	14345	1357	47	2	672	2	SIRT1	10	69648754	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	669138	69648754	65885993	1277	14549											
TET1	80312	genome.wustl.edu	37	chr10	70405073	70405073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaactcctgagaatataCcaagtaaagaaccaaaagat	5	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:70405073C>T	ENST00000373644.4	+	4	2796	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	863					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						TGAGAATATACCAAGTAAAGA	0.388																																																	0								ENSG00000138336						107	106	106					10																	70405073		2203	4300	6503	TET1	SO:0001583	missense	0			-	HGNC	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.2587C>T	10.37:g.70405073C>T	ENSP00000362748:p.Pro863Ser	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP							pfam_Znf_CXXC,pfscan_Znf_CXXC	p.P863S	ENST00000373644.4	37	c.2587	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	0.388	-0.924828	0.02377	.	.	ENSG00000138336	ENST00000373644	T	0.08984	3.03	5.88	0.726	0.18248	.	1.004080	0.08023	N	0.992273	T	0.06142	0.0159	L	0.27053	0.805	0.09310	N	1	B	0.23650	0.089	B	0.18561	0.022	T	0.41502	-0.9505	10	0.49607	T	0.09	.	5.1326	0.14919	0.2564:0.4525:0.2272:0.0639	.	863	Q8NFU7	TET1_HUMAN	S	863	ENSP00000362748:P863S	ENSP00000362748:P863S	P	+	1	0	TET1	70075079	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.397000	0.20883	-0.102000	0.12197	-0.153000	0.13522	CCA	-	NULL		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	C	NM_030625	-		70405073	1	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	SNP	0.010	T	T	70405073	C	T	70405073	3	4	196	1	0	0	0	0	1	0	0	0	15776	507	18	2	2597	2	TET1	10	70405073	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	756319	70405073	65129674	1278	14550											
TET1	80312	genome.wustl.edu	37	chr10	70450581	70450581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagggagtaacactgagacCgtgcaacctgaagtaaaaag	11	7	0	2	rs201000084		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:70450581C>T	ENST00000373644.4	+	12	5630	c.5421C>T	c.(5419-5421)acC>acT	p.T1807T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1807					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						ACACTGAGACCGTGCAACCTG	0.383													C|||	1	0.000199681	0	0	5008	,	,		16768	0.001		0	False		,,,				2504	0																0								ENSG00000138336						78	80	79					10																	70450581		2203	4300	6503	TET1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.5421C>T	10.37:g.70450581C>T		Somatic	0	78	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	54	40.00	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP							pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1807	ENST00000373644.4	37	c.5421	CCDS7281.1	10																																																																																			-	NULL		0.383	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	C	NM_030625	rs201000084		70450581	1	no_errors	ENST00000373644	ensembl	human	known	74_37	silent	SNP	0.000	T	T	70450581	C	T	70450581	2	4	196	1	0	0	0	0	0	0	0	1	15776	639	23	1		1	TET1	10	70450581	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	45508	70450581	65084166	1279	14551											
DDX21	9188	genome.wustl.edu	37	chr10	70719689	70719689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttgacatgaattctcCtaaatccaaaaaggcaaaaa	6	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:70719689C>T	ENST00000354185.4	+	2	313	c.215C>T	c.(214-216)cCt>cTt	p.P72L		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	72					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGAATTCTCCTAAATCCAAA	0.358																																																	0								ENSG00000165732						47	50	49					10																	70719689		2203	4300	6503	DDX21	SO:0001583	missense	0			-	HGNC	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.215C>T	10.37:g.70719689C>T	ENSP00000346120:p.Pro72Leu	Somatic	0	56	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P72L	ENST00000354185.4	37	c.215	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472057	0.26423	.	.	ENSG00000165732	ENST00000354185;ENST00000541642	T	0.24538	1.85	5.76	3.68	0.42216	.	1.914650	0.01979	N	0.044670	T	0.23649	0.0572	L	0.29908	0.895	0.46317	D	0.998982	B	0.06786	0.001	B	0.06405	0.002	T	0.10800	-1.0614	10	0.56958	D	0.05	-22.1039	7.6551	0.28371	0.0:0.7751:0.0:0.2249	.	72	Q9NR30	DDX21_HUMAN	L	72	ENSP00000346120:P72L	ENSP00000346120:P72L	P	+	2	0	DDX21	70389695	0.917000	0.31117	0.992000	0.48379	0.229000	0.25112	1.540000	0.36115	0.706000	0.31912	0.650000	0.86243	CCT	-	NULL		0.358	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	protein_coding	OTTHUMT00000048374.1	C	NM_004728	-		70719689	1	no_errors	ENST00000354185	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70719689	C	T	70719689	3	4	196	1	0	0	0	0	1	0	0	0	4351	681	24	2	221	2	DDX21	10	70719689	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	269108	70719689	64815058	1280	14552											
KIAA1274	27143	genome.wustl.edu	37	chr10	72289798	72289798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttcaggcgggtcctcCagaaactccagaaggacgga	14	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:72289798C>T	ENST00000263563.6	+	4	710	c.442C>T	c.(442-444)Cag>Tag	p.Q148*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	148						cytosol (GO:0005829)		p.Q148*(1)									GCGGGTCCTCCAGAAACTCCA	0.632																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000107719						45	45	45					10																	72289798		2203	4300	6503	PALD1	SO:0001587	stop_gained	0			-	HGNC	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.442C>T	10.37:g.72289798C>T	ENSP00000263563:p.Gln148*	Somatic	0	47	0		0.52429534266604	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP							smart_Tyr_Pase_cat	p.Q148*	ENST00000263563.6	37	c.442	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.968806	0.98588	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	5.34	5.34	0.76211	.	0.055848	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-26.3177	19.0411	0.92999	0.0:1.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000263563:Q148X	Q	+	1	0	KIAA1274	71959804	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.788000	0.69020	2.673000	0.90976	0.557000	0.71058	CAG	-	NULL		0.632	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	protein_coding	OTTHUMT00000048515.2	C	NM_014431	-		72289798	1	no_errors	ENST00000263563	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	72289798	C	T	72289798	4	4	196	1	0	0	0	0	0	1	0	0	8222	595	21	2	452	2	KIAA1274	10	72289798	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1570109	72289798	63244949	1281	14553											
CDH23	64072	genome.wustl.edu	37	chr10	73337680	73337680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcccagggcacgacgGtgcgcatcatcaccgccata	10	16	3	0	rs543416458		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:73337680G>A	ENST00000224721.6	+	8	783	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	CDH23_ENST00000299366.7_Missense_Mutation_p.V300M|CDH23_ENST00000398842.3_Missense_Mutation_p.V255M|CDH23_ENST00000398809.4_Missense_Mutation_p.V255M|CDH23_ENST00000461841.3_Missense_Mutation_p.V300M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	255	Cadherin 3. {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						GGGCACGACGGTGCGCATCAT	0.582													G|||	1	0.000199681	0	0	5008	,	,		19609	0.001		0	False		,,,				2504	0																0								ENSG00000107736						58	65	63					10																	73337680		2024	4181	6205	CDH23	SO:0001583	missense	0			-	HGNC	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.778G>A	10.37:g.73337680G>A	ENSP00000224721:p.Val260Met	Somatic	0	51	0		0.52429534266604	3	62.5	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	26	46.94	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V300M	ENST00000224721.6	37	c.898		10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776850	0.90195	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.59772	0.24;0.24	5.79	5.79	0.91817	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000018	D	0.84334	0.5449	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.88806	0.3288	10	0.87932	D	0	.	18.2205	0.89899	0.0:0.0:1.0:0.0	.	255;255;255	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	M	260;255;255;255;255;260;260;172	ENSP00000381789:V255M;ENSP00000381822:V255M	ENSP00000224721:V260M	V	+	1	0	CDH23	73007686	1.000000	0.71417	0.935000	0.37517	0.981000	0.71138	7.855000	0.86950	2.733000	0.93635	0.655000	0.94253	GTG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	G	NM_052836	-		73337680	1	no_errors	ENST00000461841	ensembl	human	known	74_37	missense	SNP	0.999	A	A	73337680	G	A	73337680	3	1	196	1	0	0	0	0	1	0	0	0	3110	1261	44	2	793	2	CDH23	10	73337680	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1047882	73337680	62197067	1282	14554											
CHST3	9469	genome.wustl.edu	37	chr10	73766992	73766992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacagcaccgacccagCcctgatcttagctgagaacg	9	15	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:73766992C>T	ENST00000373115.4	+	3	640	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	68					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						ACCGACCCAGCCCTGATCTTA	0.562																																																	0								ENSG00000122863						95	89	91					10																	73766992		2203	4300	6503	CHST3	SO:0001583	missense	0			-	HGNC	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.203C>T	10.37:g.73766992C>T	ENSP00000362207:p.Ala68Val	Somatic	0	46	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	38	19.15	O75099|Q52M30	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.A68V	ENST00000373115.4	37	c.203	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760304	0.15914	.	.	ENSG00000122863	ENST00000373115	D	0.96459	-4.02	5.62	3.73	0.42828	.	0.355441	0.30277	N	0.009988	D	0.90817	0.7116	L	0.34521	1.04	0.19575	N	0.999969	B	0.06786	0.001	B	0.06405	0.002	T	0.80616	-0.1303	10	0.37606	T	0.19	-25.6192	3.4689	0.07559	0.2893:0.4694:0.1594:0.0819	.	68	Q7LGC8	CHST3_HUMAN	V	68	ENSP00000362207:A68V	ENSP00000362207:A68V	A	+	2	0	CHST3	73436998	0.961000	0.32948	0.897000	0.35233	0.062000	0.15995	1.089000	0.30890	1.343000	0.45638	0.655000	0.94253	GCC	-	pirsf_Carbohydrate_sulfotransferase		0.562	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	protein_coding	OTTHUMT00000048563.1	C	NM_004273	-		73766992	1	no_errors	ENST00000373115	ensembl	human	known	74_37	missense	SNP	0.412	T	T	73766992	C	T	73766992	3	4	196	1	0	0	0	0	1	0	0	0	3407	739	26	2	209	2	CHST3	10	73766992	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	429312	73766992	61767755	1283	14555											
KIAA0913	23053	genome.wustl.edu	37	chr10	75552596	75552596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgaagccactggaacagGagagtcgcatggaggtgagg	18	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:75552596G>A	ENST00000605216.1	+	10	2516	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.E767K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E767K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E767K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E734K	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	767							zinc ion binding (GO:0008270)										ACTGGAACAGGAGAGTCGCAT	0.632																																																	0								ENSG00000214655						47	53	51					10																	75552596		1963	3978	5941	ZSWIM8	SO:0001583	missense	0			-	HGNC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2299G>A	10.37:g.75552596G>A	ENSP00000474748:p.Glu767Lys	Somatic	0	48	0		0.52429534266604	12	20	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP							pfscan_Znf_SWIM	p.E767K	ENST00000605216.1	37	c.2299		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.560080|4.560080	0.86335|0.86335	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.52526|.	0.66|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.72053|0.72053	0.3413|0.3413	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.76071|.	0.987;0.987;0.987;0.987|.	T|T	0.67011|0.67011	-0.5778|-0.5778	10|5	0.66056|.	D|.	0.02|.	-8.9435|-8.9435	19.6982|19.6982	0.96039|0.96039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	767;767;767;767|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	K|E	767|489	ENSP00000381693:E767K|.	ENSP00000381693:E767K|.	E|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75222602|75222602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.547000|9.547000	0.98100|0.98100	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	NULL		0.632	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	protein_coding	OTTHUMT00000468545.1	G	NM_001242487	-		75552596	1	no_errors	ENST00000398706	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75552596	G	A	75552596	3	1	196	1	0	0	0	0	1	0	0	0	8202	1175	41	2	2337	2	KIAA0913	10	75552596	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1785604	75552596	59982151	1284	14556											
NRG3	10718	genome.wustl.edu	37	chr10	83635333	83635333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcggcttcatcggcctGgggctcagcctcatgcttct	10	14	5	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:83635333G>A	ENST00000404547.1	+	1	237	c.237G>A	c.(235-237)ctG>ctA	p.L79L	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Silent_p.L79L			P56975	NRG3_HUMAN	neuregulin 3	79					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCATCGGCCTGGGGCTCAGCC	0.632																																																	0								ENSG00000185737						71	56	61					10																	83635333		2203	4299	6502	NRG3	SO:0001819	synonymous_variant	0			-	HGNC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.237G>A	10.37:g.83635333G>A		Somatic	0	8	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	4	50.00	A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP							pfscan_EG-like_dom	p.L79	ENST00000404547.1	37	c.237	CCDS31233.1	10																																																																																			-	NULL		0.632	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	protein_coding	OTTHUMT00000412262.1	G	XM_166086	-		83635333	1	no_errors	ENST00000404547	ensembl	human	known	74_37	silent	SNP	1.000	A	A	83635333	G	A	83635333	2	1	196	1	0	0	0	0	0	0	0	1	10651	1335	47	2		2	NRG3	10	83635333	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8082737	83635333	51899414	1285	14557											
CDHR1	92211	genome.wustl.edu	37	chr10	85967952	85967952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgaaatgagccctgcggGgagcccagctgcccaggcca	14	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:85967952G>A	ENST00000372117.3	+	11	1089	c.986G>A	c.(985-987)gGg>gAg	p.G329E	CDHR1_ENST00000440770.2_Missense_Mutation_p.G88E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G329E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGCCCTGCGGGGAGCCCAGCT	0.597																																																	0								ENSG00000148600						59	58	58					10																	85967952		2203	4300	6503	CDHR1	SO:0001583	missense	0			-	HGNC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.986G>A	10.37:g.85967952G>A	ENSP00000361189:p.Gly329Glu	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	Q69YZ8|Q8IXY5	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G329E	ENST00000372117.3	37	c.986	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418479	0.42918	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.66638	-0.22;-0.22;0.34	5.57	3.65	0.41850	Cadherin (4);Cadherin-like (1);	0.194182	0.53938	D	0.000044	D	0.85155	0.5632	H	0.95079	3.62	0.37786	D	0.92717	D;D;D	0.76494	0.983;0.999;0.991	P;D;D	0.72075	0.876;0.976;0.959	D	0.87409	0.2374	10	0.28530	T	0.3	-15.2308	13.5636	0.61804	0.0:0.0:0.7157:0.2842	.	88;329;329	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	329;329;88	ENSP00000331063:G329E;ENSP00000361189:G329E;ENSP00000415980:G88E	ENSP00000331063:G329E	G	+	2	0	CDHR1	85957932	1.000000	0.71417	0.079000	0.20413	0.188000	0.23474	3.021000	0.49651	0.661000	0.30985	0.491000	0.48974	GGG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	protein_coding	OTTHUMT00000049111.1	G	NM_033100	-		85967952	1	no_errors	ENST00000372117	ensembl	human	known	74_37	missense	SNP	0.509	A	A	85967952	G	A	85967952	3	1	196	1	0	0	0	0	1	0	0	0	3120	1232	43	2	1028	2	CDHR1	10	85967952	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2332619	85967952	49566795	1286	14558											
CDHR1	92211	genome.wustl.edu	37	chr10	85978855	85978855	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgagaagactaaggtacatGaaaaatagtaacttccctgg	10	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:85978855G>A	ENST00000372117.3	+	0	5428				CDHR1_ENST00000332904.3_Missense_Mutation_p.M687I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						taaggtacatgaaaaatagta	0.373																																																	0								ENSG00000148600																																			CDHR1	SO:0001628	intergenic_variant	0			-	HGNC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634		10.37:g.85978855G>A		Somatic	0	73	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	80	20.00	Q69YZ8|Q8IXY5	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.M687I	ENST00000372117.3	37	c.2061	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130606	0.06753	.	.	ENSG00000148600	ENST00000332904	T	0.53206	0.63	1.15	-1.49	0.08718	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.20780	0.048	B	0.13407	0.009	T	0.14868	-1.0457	8	0.36615	T	0.2	.	4.2331	0.10613	0.5238:0.0:0.4762:0.0	.	687	Q96JP9-2	.	I	687	ENSP00000331063:M687I	ENSP00000331063:M687I	M	+	3	0	CDHR1	85968835	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.877000	0.04197	-0.529000	0.06358	-0.367000	0.07326	ATG	-	pfscan_Cadherin		0.373	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	protein_coding	OTTHUMT00000049111.1	G	NM_033100	-		85978855	1	no_errors	ENST00000332904	ensembl	human	known	74_37	missense	SNP	0.000	A	A	85978855	G	A	85978855	1	1	196	0	1	0	0	0	0	0	0	0	3120	1290	45	2		2	CDHR1	10	85978855	IGR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10903	85978855	49555892	1287	14559											
LDB3	11155	genome.wustl.edu	37	chr10	88476375	88476375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggcaagagcaccacctCcatcagcaagcagaccctgc	9	18	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:88476375C>T	ENST00000361373.4	+	9	1544	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	LDB3_ENST00000263066.6_Missense_Mutation_p.S398F|LDB3_ENST00000429277.2_Missense_Mutation_p.S513F|LDB3_ENST00000458213.2_Missense_Mutation_p.S398F|LDB3_ENST00000352360.5_Missense_Mutation_p.S251F	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGCACCACCTCCATCAGCAAG	0.682																																																	0								ENSG00000122367						65	71	69					10																	88476375		2203	4300	6503	LDB3	SO:0001583	missense	0			-	HGNC	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1523C>T	10.37:g.88476375C>T	ENSP00000355296:p.Ser508Phe	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65		Missense_Mutation	SNP							pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S513F	ENST00000361373.4	37	c.1538	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560893	0.86335	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.55413	0.75;0.58;0.56;0.58;0.52	4.89	4.89	0.63831	.	0.947703	0.08560	N	0.927717	T	0.70988	0.3287	M	0.68952	2.095	0.80722	D	1	P;P;B;D;B	0.64830	0.612;0.731;0.25;0.994;0.115	B;P;B;P;B	0.58331	0.259;0.628;0.323;0.837;0.244	T	0.68693	-0.5341	10	0.66056	D	0.02	.	18.4308	0.90624	0.0:1.0:0.0:0.0	.	513;429;251;508;398	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	F	429;513;398;251;398;508	ENSP00000401437:S513F;ENSP00000409148:S398F;ENSP00000263067:S251F;ENSP00000263066:S398F;ENSP00000355296:S508F	ENSP00000263066:S398F	S	+	2	0	LDB3	88466355	0.131000	0.22433	0.074000	0.20217	0.941000	0.58515	3.640000	0.54350	2.419000	0.82065	0.650000	0.86243	TCC	-	NULL		0.682	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	protein_coding	OTTHUMT00000049160.2	C		-		88476375	1	no_errors	ENST00000429277	ensembl	human	known	74_37	missense	SNP	0.967	T	T	88476375	C	T	88476375	3	4	196	1	0	0	0	0	1	0	0	0	8699	855	30	2	1893	2	LDB3	10	88476375	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2497520	88476375	47058372	1288	14560											
LIPK	643414	genome.wustl.edu	37	chr10	90490889	90490889	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggaaacacttggtccAgaaaacaccttaaattgtca	8	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:90490889A>C	ENST00000404190.1	+	3	373	c.373A>C	c.(373-375)Aga>Cga	p.R125R		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	125					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACTTGGTCCAGAAAACACCT	0.433																																																	0								ENSG00000204021						69	69	69					10																	90490889		1983	4201	6184	LIPK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.373A>C	10.37:g.90490889A>C		Somatic	0	119	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	119	16.20	A7KIH8	Silent	SNP							pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.R125	ENST00000404190.1	37	c.373	CCDS44455.1	10																																																																																			-	pfam_AB_hydrolase_1		0.433	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPK	protein_coding	OTTHUMT00000049253.2	A	XM_061222	-		90490889	1	no_errors	ENST00000404190	ensembl	human	known	74_37	silent	SNP	0.887	C	C	90490889	A	C	90490889	2	2	196	1	0	0	0	0	0	0	0	1	8829	180	7	5		5	LIPK	10	90490889	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2014514	90490889	45043858	1289	14561											
EXOC6	54536	genome.wustl.edu	37	chr10	94669234	94669234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagagaatgtgtactttcCctgggttagtcaataccggt	10	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:94669234C>T	ENST00000260762.6	+	6	523	c.509C>T	c.(508-510)cCc>cTc	p.P170L	EXOC6_ENST00000443748.2_Missense_Mutation_p.P170L|EXOC6_ENST00000371547.4_Missense_Mutation_p.P186L|EXOC6_ENST00000371552.4_Missense_Mutation_p.P165L	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	170					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GTGTACTTTCCCTGGGTTAGT	0.343																																																	0								ENSG00000138190						103	106	105					10																	94669234		2203	4300	6503	EXOC6	SO:0001583	missense	0			-	HGNC	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.509C>T	10.37:g.94669234C>T	ENSP00000260762:p.Pro170Leu	Somatic	0	138	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	80	32.77	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP							pfam_Sec15,pirsf_Sec15	p.P186L	ENST00000260762.6	37	c.557	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812319	0.70912	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.75447	2.3	0.38272	D	0.942177	D;P;D;P;P	0.67145	0.996;0.666;0.983;0.937;0.937	D;B;P;P;P	0.70487	0.969;0.162;0.703;0.477;0.615	T	0.65606	-0.6127	10	0.59425	D	0.04	-6.9604	20.1438	0.98071	0.0:1.0:0.0:0.0	.	186;170;162;170;165	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	L	186;165;170;170	ENSP00000360602:P186L;ENSP00000360607:P165L;ENSP00000396206:P170L;ENSP00000260762:P170L	ENSP00000260762:P170L	P	+	2	0	EXOC6	94659214	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.525000	0.81892	2.768000	0.95171	0.650000	0.86243	CCC	-	pirsf_Sec15		0.343	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	protein_coding	OTTHUMT00000049410.2	C	NM_019053	-		94669234	1	no_errors	ENST00000371547	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94669234	C	T	94669234	3	4	196	1	0	0	0	0	1	0	0	0	5310	623	22	2	621	2	EXOC6	10	94669234	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4178345	94669234	40865513	1290	14562											
MYOF	26509	genome.wustl.edu	37	chr10	95157177	95157177	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgacgacctgattccactCtgggtttgcatttttctcaa	7	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:95157177C>T	ENST00000359263.4	-	14	1257	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	MYOF_ENST00000358334.5_Missense_Mutation_p.E420K|MYOF_ENST00000371501.4_Missense_Mutation_p.E420K|MYOF_ENST00000371502.4_Missense_Mutation_p.E420K|MYOF_ENST00000371489.1_Missense_Mutation_p.E420K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	420	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTCCACTCTGGGTTTGCA	0.289																																																	0								ENSG00000138119						150	137	141					10																	95157177		1806	4075	5881	MYOF	SO:0001583	missense	0			-	HGNC	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1258G>A	10.37:g.95157177C>T	ENSP00000352208:p.Glu420Lys	Somatic	0	76	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	33	42.11	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.E420K	ENST00000359263.4	37	c.1258	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042632	0.93685	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.35	4.35	0.52113	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	L	0.58810	1.83	0.80722	D	1	D;P;D	0.76494	0.999;0.567;0.999	D;P;D	0.85130	0.997;0.561;0.982	T	0.80167	-0.1495	10	0.49607	T	0.09	-11.8882	17.0569	0.86536	0.0:1.0:0.0:0.0	.	402;420;420	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	K	420	ENSP00000351094:E420K;ENSP00000352208:E420K;ENSP00000360556:E420K;ENSP00000360557:E420K;ENSP00000360544:E420K	ENSP00000351094:E420K	E	-	1	0	MYOF	95147167	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.292000	0.78731	2.227000	0.72691	0.313000	0.20887	GAG	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.289	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	protein_coding	OTTHUMT00000049423.2	C	NM_013451	-		95157177	-1	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95157177	C	T	95157177	3	4	196	1	0	0	0	0	1	0	0	0	10091	922	32	2	5091	2	MYOF	10	95157177	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	487943	95157177	40377570	1291	14563											
CYP2C18	1562	genome.wustl.edu	37	chr10	96495123	96495123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctcaggttgacccaaaGgatattgacatcacccccat	6	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:96495123G>A	ENST00000285979.6	+	9	1594	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	CYP2C18_ENST00000339022.5_Silent_p.K406K|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	465					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTGACCCAAAGGATATTGACA	0.493																																																	0								ENSG00000108242						205	188	194					10																	96495123		2203	4300	6503	CYP2C18	SO:0001819	synonymous_variant	0			-	HGNC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1395G>A	10.37:g.96495123G>A		Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	69	20.69	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.K465	ENST00000285979.6	37	c.1395	CCDS7435.1	10																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.493	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	protein_coding	OTTHUMT00000049486.1	G	NM_000772	-		96495123	1	no_errors	ENST00000285979	ensembl	human	known	74_37	silent	SNP	0.002	A	A	96495123	G	A	96495123	2	1	196	1	0	0	0	0	0	0	0	1	4167	991	35	2		2	CYP2C18	10	96495123	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1337946	96495123	39039624	1292	14564											
ARHGAP19	84986	genome.wustl.edu	37	chr10	98988928	98988928	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcccctctttcttcccttCagaccacttcaatcttgttg	3	15	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:98988928C>T	ENST00000358531.4	-	11	1478	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.E455K|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.E484K|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.E475K|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.E475K|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.E484K|ARHGAP19_ENST00000487035.1_5'UTR	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	484					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TTCTTCCCTTCAGACCACTTC	0.363																																																	0								ENSG00000269891						205	184	191					10																	98988928		2203	4300	6503	ARHGAP19-SLIT1	SO:0001583	missense	0			-	HGNC	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1450G>A	10.37:g.98988928C>T	ENSP00000351333:p.Glu484Lys	Somatic	0	81	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E484K	ENST00000358531.4	37	c.1450	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944878	0.73672	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.10763	3.07;3.03;3.04;3.1;3.11;2.84	5.62	4.72	0.59763	.	0.358676	0.21975	U	0.066393	T	0.07818	0.0196	L	0.27053	0.805	0.30695	N	0.750959	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.14117	-1.0484	10	0.21014	T	0.42	-7.1488	10.2917	0.43599	0.0:0.9093:0.0:0.0907	.	455;484;475	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	K	484;484;475;484;475;303;455	ENSP00000414774:E484K;ENSP00000324468:E484K;ENSP00000347526:E475K;ENSP00000351333:E484K;ENSP00000360066:E475K;ENSP00000351058:E455K	ENSP00000324468:E484K	E	-	1	0	ARHGAP19	98978918	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.315000	0.43752	1.371000	0.46172	0.655000	0.94253	GAA	-	NULL		0.363	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19-SLIT1	protein_coding	OTTHUMT00000049647.2	C	NM_032900	-		98988928	-1	no_errors	ENST00000453547	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98988928	C	T	98988928	3	4	196	1	0	0	0	0	1	0	0	0	869	835	29	2	42	2	ARHGAP19	10	98988928	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2493805	98988928	36545819	1293	14565											
RRP12	23223	genome.wustl.edu	37	chr10	99131848	99131848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctaggtagggccggatGgtggagtatagcttactgat	14	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:99131848G>A	ENST00000370992.4	-	20	2436	c.2325C>T	c.(2323-2325)acC>acT	p.T775T	RRP12_ENST00000414986.1_Silent_p.T714T|RRP12_ENST00000315563.6_Silent_p.T675T|RRP12_ENST00000536831.1_Silent_p.T493T|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	775						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGGCCGGATGGTGGAGTATA	0.632																																																	0								ENSG00000052749						77	62	67					10																	99131848		2203	4300	6503	RRP12	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2325C>T	10.37:g.99131848G>A		Somatic	0	31	0		0.52429534266604	49	35.53	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP							pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.T775	ENST00000370992.4	37	c.2325	CCDS7457.1	10																																																																																			-	superfamily_ARM-type_fold		0.632	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	protein_coding	OTTHUMT00000049699.4	G	NM_015179	-		99131848	-1	no_errors	ENST00000370992	ensembl	human	known	74_37	silent	SNP	0.994	A	A	99131848	G	A	99131848	2	1	196	1	0	0	0	0	0	0	0	1	13694	1335	47	2		2	RRP12	10	99131848	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	142920	99131848	36402899	1294	14566											
CRTAC1	55118	genome.wustl.edu	37	chr10	99770920	99770920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgacgatctcaaagtcccCatcatggtccacatcagtaa	6	14	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:99770920C>A	ENST00000370597.3	-	2	554	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G67W|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G67W	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	67						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TCAAAGTCCCCATCATGGTCC	0.483																																																	0								ENSG00000095713						156	128	138					10																	99770920		2203	4300	6503	CRTAC1	SO:0001583	missense	0			-	HGNC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.199G>T	10.37:g.99770920C>A	ENSP00000359629:p.Gly67Trp	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP							pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.G67W	ENST00000370597.3	37	c.199	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951520	0.92660	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75892	-0.3157	10	0.87932	D	0	-26.4399	20.8794	0.99867	0.0:1.0:0.0:0.0	.	67;67	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	W	67;67;59;67	ENSP00000359629:G67W;ENSP00000298819:G67W;ENSP00000310810:G59W;ENSP00000359623:G67W	ENSP00000298819:G67W	G	-	1	0	CRTAC1	99760910	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.170000	0.77587	2.941000	0.99782	0.655000	0.94253	GGG	-	NULL		0.483	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	protein_coding	OTTHUMT00000049754.1	C	NM_018058	-		99770920	-1	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99770920	C	A	99770920	3	1	196	1	0	0	0	0	1	0	0	0	3898	594	21	3	1842	3	CRTAC1	10	99770920	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	639072	99770920	35763827	1295	14567											
DNMBP	23268	genome.wustl.edu	37	chr10	101716781	101716781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccccattagggcccgGgcttgtcccatggaatattc	11	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:101716781G>A	ENST00000324109.4	-	4	541	c.450C>T	c.(448-450)gcC>gcT	p.A150A	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.A150A	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	150	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTAGGGCCCGGGCTTGTCCCA	0.562																																																	0								ENSG00000107554						40	43	42					10																	101716781		2203	4300	6503	DNMBP	SO:0001819	synonymous_variant	0			-	HGNC	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.450C>T	10.37:g.101716781G>A		Somatic	0	81	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	63	40.57	Q8IVY3|Q9Y2L3	Silent	SNP							pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.A150	ENST00000324109.4	37	c.450	CCDS7485.1	10																																																																																			-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.562	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	protein_coding	OTTHUMT00000049832.2	G	NM_015221	-		101716781	-1	no_errors	ENST00000342239	ensembl	human	known	74_37	silent	SNP	0.999	A	A	101716781	G	A	101716781	2	1	196	1	0	0	0	0	0	0	0	1	4676	1219	43	2		2	DNMBP	10	101716781	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1945861	101716781	33817966	1296	14568											
GBF1	8729	genome.wustl.edu	37	chr10	104122337	104122337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactgccaggctaaagtcCtcaacagcctcacccagcaa	6	18	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:104122337C>T	ENST00000369983.3	+	15	2049	c.1789C>T	c.(1789-1791)Ctc>Ttc	p.L597F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	597					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGCTAAAGTCCTCAACAGCCT	0.502																																																	0								ENSG00000107862						170	147	155					10																	104122337		2203	4300	6503	GBF1	SO:0001583	missense	0			-	HGNC	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1789C>T	10.37:g.104122337C>T	ENSP00000359000:p.Leu597Phe	Somatic	0	48	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP							pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.L597F	ENST00000369983.3	37	c.1789	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496322	0.44352	.	.	ENSG00000107862	ENST00000369983	T	0.12039	2.72	5.67	3.74	0.42951	.	0.180592	0.50627	D	0.000116	T	0.15955	0.0384	L	0.59436	1.845	0.46044	D	0.998837	P;P;P	0.49961	0.883;0.887;0.93	B;B;B	0.42319	0.179;0.179;0.383	T	0.02646	-1.1129	10	0.62326	D	0.03	-9.9206	11.4562	0.50183	0.1272:0.8049:0.0:0.0679	.	597;597;597	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	597	ENSP00000359000:L597F	ENSP00000359000:L597F	L	+	1	0	GBF1	104112327	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	1.865000	0.39479	1.471000	0.48121	0.655000	0.94253	CTC	-	NULL		0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	protein_coding	OTTHUMT00000050051.1	C		-		104122337	1	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104122337	C	T	104122337	3	4	196	1	0	0	0	0	1	0	0	0	6273	681	24	2	1843	2	GBF1	10	104122337	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2405556	104122337	31412410	1297	14569											
CALHM1	255022	genome.wustl.edu	37	chr10	105215167	105215167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgagcagcctgttcatgGtgccttgatccgtgatgcca	12	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:105215167G>A	ENST00000329905.5	-	2	1029	c.893C>T	c.(892-894)aCc>aTc	p.T298I	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	298					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCTGTTCATGGTGCCTTGATC	0.677																																																	0								ENSG00000185933						78	59	65					10																	105215167		2203	4300	6503	CALHM1	SO:0001583	missense	0			-	HGNC	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.893C>T	10.37:g.105215167G>A	ENSP00000329926:p.Thr298Ile	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	22.45	Q5W091	Missense_Mutation	SNP							NULL	p.T298I	ENST00000329905.5	37	c.893	CCDS7550.1	10	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362075	0.41902	.	.	ENSG00000185933	ENST00000329905	T	0.18657	2.2	4.8	3.89	0.44902	.	0.582602	0.19409	N	0.114992	T	0.23611	0.0571	L	0.51422	1.61	0.43750	D	0.996257	B	0.25441	0.126	B	0.26864	0.074	T	0.05370	-1.0889	10	0.59425	D	0.04	-26.8539	15.4806	0.75524	0.0:0.139:0.861:0.0	.	298	Q8IU99	CAHM1_HUMAN	I	298	ENSP00000329926:T298I	ENSP00000329926:T298I	T	-	2	0	CALHM1	105205157	0.997000	0.39634	0.743000	0.31040	0.534000	0.34807	3.818000	0.55678	1.126000	0.42016	0.462000	0.41574	ACC	-	NULL		0.677	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	protein_coding	OTTHUMT00000050165.1	G	NM_001001412	-		105215167	-1	no_errors	ENST00000329905	ensembl	human	known	74_37	missense	SNP	0.961	A	A	105215167	G	A	105215167	3	1	196	1	0	0	0	0	1	0	0	0	2584	1261	44	2	151	2	CALHM1	10	105215167	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1092830	105215167	30319580	1298	14570											
CCDC147	159686	genome.wustl.edu	37	chr10	106166549	106166549	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaaagagctgctcctcCaggtagcatttttgttttct	8	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:106166549C>T	ENST00000369704.3	+	15	2388	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		752						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCTGCTCCTCCAGGTAGCATT	0.448																																																	0								ENSG00000120051						105	106	105					10																	106166549		2203	4300	6503	CCDC147	SO:0001587	stop_gained	0			-	HGNC																												ENST00000369704.3:c.2254C>T	10.37:g.106166549C>T	ENSP00000358718:p.Gln752*	Somatic	0	54	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.62	D3DRA6|Q8NA27	Nonsense_Mutation	SNP							superfamily_Homeodomain-like	p.Q752*	ENST00000369704.3	37	c.2254	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.946974	0.99012	.	.	ENSG00000120051	ENST00000369704	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-26.3534	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	752	.	ENSP00000358718:Q752X	Q	+	1	0	CCDC147	106156539	1.000000	0.71417	0.973000	0.42090	0.932000	0.56968	7.190000	0.77755	2.937000	0.99478	0.650000	0.86243	CAG	-	superfamily_Homeodomain-like		0.448	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	protein_coding	OTTHUMT00000050216.1	C		-		106166549	1	no_errors	ENST00000369704	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	106166549	C	T	106166549	4	4	196	1	0	0	0	0	0	1	0	0	2783	595	21	2	2312	2	CCDC147	10	106166549	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	951382	106166549	29368198	1299	14571											
SORCS3	22986	genome.wustl.edu	37	chr10	107016627	107016627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcagccatgcttatgCtattatcagtggtatttgtt	9	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:107016627C>T	ENST00000369701.3	+	25	3615	c.3388C>T	c.(3388-3390)Cta>Tta	p.L1130L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1130					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)	p.L1130L(1)		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)		CATGCTTATGCTATTATCAGT	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)												1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000156395						175	149	158					10																	107016627		2203	4300	6503	SORCS3	SO:0001819	synonymous_variant	0			-	HGNC	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.3388C>T	10.37:g.107016627C>T		Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	43	35.82	Q5VXF9|Q9NQJ2	Silent	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L1130	ENST00000369701.3	37	c.3388	CCDS7558.1	10																																																																																			-	NULL		0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	C	NM_014978	-		107016627	1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	SNP	1.000	T	T	107016627	C	T	107016627	2	4	196	1	0	0	0	0	0	0	0	1	14940	796	28	2		2	SORCS3	10	107016627	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	850078	107016627	28518120	1300	14572											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111637563	111637563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacgcgtagtgaatgatgGcgccgttgggtcccgtactg	14	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:111637563G>A	ENST00000502935.1	-	14	1423	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A392V|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A435V|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A321V					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTGAATGATGGCGCCGTTGGG	0.532																																																	0								ENSG00000108039						128	116	120					10																	111637563		2203	4300	6503	XPNPEP1	SO:0001583	missense	0			-	HGNC		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1304C>T	10.37:g.111637563G>A	ENSP00000421566:p.Ala435Val	Somatic	0	73	0		0.52429534266604	68	29.9	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	73	13.10		Missense_Mutation	SNP							pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.A435V	ENST00000502935.1	37	c.1304	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	34	5.348459	0.95807	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.49	5.49	0.81192	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	H	0.99590	4.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.986;0.996	D	0.96412	0.9305	10	0.87932	D	0	-16.7166	17.5727	0.87939	0.0:0.0:1.0:0.0	.	435;435;392	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	V	435;321;435;392	ENSP00000421566:A435V;ENSP00000358697:A321V;ENSP00000324011:A435V;ENSP00000358694:A392V	ENSP00000324011:A435V	A	-	2	0	XPNPEP1	111627553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.220000	0.95180	2.575000	0.86900	0.460000	0.39030	GCC	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.532	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	G		-		111637563	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	SNP	1.000	A	A	111637563	G	A	111637563	3	1	196	1	0	0	0	0	1	0	0	0	17449	1203	42	2	728	2	XPNPEP1	10	111637563	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4620936	111637563	23897184	1301	14573											
SHOC2	8036	genome.wustl.edu	37	chr10	112769129	112769129	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccaaatgaaattgcatatCttaaggatttacaggtaaac	7	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:112769129C>T	ENST00000369452.4	+	7	1753	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F	SHOC2_ENST00000265277.5_Missense_Mutation_p.L424F|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	470					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AATTGCATATCTTAAGGATTT	0.323																																																	0								ENSG00000108061						52	55	54					10																	112769129		2202	4293	6495	SHOC2	SO:0001583	missense	0			-	HGNC	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1408C>T	10.37:g.112769129C>T	ENSP00000358464:p.Leu470Phe	Somatic	0	51	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L470F	ENST00000369452.4	37	c.1408	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091474	0.76756	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.35973	1.28;1.28;1.28	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83483	2.645	0.80722	D	1	B;P	0.50369	0.376;0.934	B;P	0.51701	0.146;0.677	T	0.62167	-0.6911	10	0.66056	D	0.02	.	20.3866	0.98944	0.0:1.0:0.0:0.0	.	424;470	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	F	424;470;260	ENSP00000265277:L424F;ENSP00000358464:L470F;ENSP00000408275:L260F	ENSP00000265277:L424F	L	+	1	0	SHOC2	112759119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.569000	0.82380	2.826000	0.97356	0.650000	0.86243	CTT	-	smart_Leu-rich_rpt_typical-subtyp		0.323	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	protein_coding	OTTHUMT00000050355.1	C	NM_007373	-		112769129	1	no_errors	ENST00000369452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112769129	C	T	112769129	3	4	196	1	0	0	0	0	1	0	0	0	14295	913	32	2	1430	2	SHOC2	10	112769129	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1131566	112769129	22765618	1302	14574											
ZDHHC6	64429	genome.wustl.edu	37	chr10	114194076	114194076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaagctgtattggtgacaGccttctcttactggccactc	9	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:114194076G>A	ENST00000369405.3	-	7	1305	c.882C>T	c.(880-882)ggC>ggT	p.G294G	ZDHHC6_ENST00000482410.1_5'Flank|ZDHHC6_ENST00000369404.3_Silent_p.G290G	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	294					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATTGGTGACAGCCTTCTCTTA	0.443																																																	0								ENSG00000023041						108	96	100					10																	114194076		2203	4300	6503	ZDHHC6	SO:0001819	synonymous_variant	0			-	HGNC	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.882C>T	10.37:g.114194076G>A		Somatic	0	96	0		0.52429534266604	24	48.94	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	55	31.25	D3DRB6|Q53G45|Q96IV7|Q9H605	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.G294	ENST00000369405.3	37	c.882	CCDS7574.1	10																																																																																			-	NULL		0.443	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	protein_coding	OTTHUMT00000050393.1	G	NM_022494	-		114194076	-1	no_errors	ENST00000369405	ensembl	human	known	74_37	silent	SNP	0.999	A	A	114194076	G	A	114194076	2	1	196	1	0	0	0	0	0	0	0	1	17626	958	34	2		2	ZDHHC6	10	114194076	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1424947	114194076	21340671	1303	14575											
RGS10	6001	genome.wustl.edu	37	chr10	121275051	121275051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttctggaacatcagaggGtgcggttcttccaggatctt	12	8	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:121275051G>A	ENST00000369101.3	-	3	372	c.345C>T	c.(343-345)caC>caT	p.H115H	RGS10_ENST00000369103.2_Silent_p.H123H|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000392865.1_Silent_p.H109H			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	115	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H123Q(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACATCAGAGGGTGCGGTTCTT	0.507																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000148908						186	154	165					10																	121275051		2203	4300	6503	RGS10	SO:0001819	synonymous_variant	0			-	HGNC	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.345C>T	10.37:g.121275051G>A		Somatic	0	83	0		0.52429534266604	1756	4.76	88	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	52	44.68	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Silent	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.H123	ENST00000369101.3	37	c.369		10																																																																																			-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam		0.507	RGS10-002	KNOWN	basic	protein_coding	RGS10	protein_coding	OTTHUMT00000050655.1	G	NM_002925	-		121275051	-1	no_errors	ENST00000369103	ensembl	human	known	74_37	silent	SNP	0.998	A	A	121275051	G	A	121275051	2	1	196	1	0	0	0	0	0	0	0	1	13301	1252	44	2		2	RGS10	10	121275051	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7080975	121275051	14259696	1304	14576											
WDR11	55717	genome.wustl.edu	37	chr10	122659643	122659643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagtattctttggacatttCtcatgtgtaagtttttcact	6	7	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:122659643C>T	ENST00000263461.6	+	20	2864	c.2618C>T	c.(2617-2619)tCt>tTt	p.S873F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTGGACATTTCTCATGTGTAA	0.428																																																	0								ENSG00000120008						175	161	166					10																	122659643		2203	4300	6503	WDR11	SO:0001583	missense	0			-	HGNC	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2618C>T	10.37:g.122659643C>T	ENSP00000263461:p.Ser873Phe	Somatic	0	35	0		0.52429534266604	11	35.29	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S873F	ENST00000263461.6	37	c.2618	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692902	0.30052	.	.	ENSG00000120008	ENST00000263461	D	0.90676	-2.71	5.75	4.85	0.62838	.	0.271190	0.39759	N	0.001276	T	0.79902	0.4526	N	0.08118	0	0.36653	D	0.87752	B;B;B;B	0.29805	0.0;0.0;0.006;0.257	B;B;B;B	0.24541	0.0;0.0;0.005;0.054	T	0.81709	-0.0809	10	0.72032	D	0.01	-11.4123	11.3101	0.49358	0.0:0.8442:0.0:0.1558	.	873;873;164;402	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	F	873	ENSP00000263461:S873F	ENSP00000263461:S873F	S	+	2	0	WDR11	122649633	0.999000	0.42202	0.981000	0.43875	0.347000	0.29111	2.531000	0.45650	1.447000	0.47661	0.644000	0.83932	TCT	-	NULL		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	protein_coding	OTTHUMT00000050707.2	C		-		122659643	1	no_errors	ENST00000263461	ensembl	human	known	74_37	missense	SNP	0.963	T	T	122659643	C	T	122659643	3	4	196	1	0	0	0	0	1	0	0	0	17280	913	32	2	2696	2	WDR11	10	122659643	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1384592	122659643	12875104	1305	14577											
TACC2	10579	genome.wustl.edu	37	chr10	123996963	123996963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaaacagccttgtactcCcgcatcgggaccgctgaggt	10	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:123996963C>T	ENST00000369005.1	+	17	8521	c.8181C>T	c.(8179-8181)tcC>tcT	p.S2727S	TACC2_ENST00000360561.3_Silent_p.S775S|TACC2_ENST00000453444.2_Silent_p.S2654S|TACC2_ENST00000334433.3_Silent_p.S2727S|TACC2_ENST00000369001.1_Silent_p.S354S|TACC2_ENST00000515273.1_Silent_p.S2654S|TACC2_ENST00000513429.1_Silent_p.S873S|TACC2_ENST00000369004.3_Silent_p.S787S|TACC2_ENST00000369000.1_Silent_p.S350S|TACC2_ENST00000515603.1_Silent_p.S2605S|TACC2_ENST00000368999.1_Silent_p.S817S|TACC2_ENST00000358010.1_Silent_p.S873S|TACC2_ENST00000260733.3_Silent_p.S805S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2727					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)				CCTTGTACTCCCGCATCGGGA	0.517																																																	0								ENSG00000138162						54	54	54					10																	123996963		2203	4300	6503	TACC2	SO:0001819	synonymous_variant	0			-	HGNC	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.8181C>T	10.37:g.123996963C>T		Somatic	0	58	0		0.52429534266604	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP							pfam_TACC	p.S2727	ENST00000369005.1	37	c.8181	CCDS7626.1	10																																																																																			-	NULL		0.517	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	C		-		123996963	1	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	SNP	1.000	T	T	123996963	C	T	123996963	2	4	196	1	0	0	0	0	0	0	0	1	15509	610	22	2		2	TACC2	10	123996963	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1337320	123996963	11537784	1306	14578											
C10orf120	399814	genome.wustl.edu	37	chr10	124457606	124457606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcatcatcacaattatgGgtgtcatagttgtcttcctt	8	8	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:124457606G>A	ENST00000329446.4	-	3	682	c.651C>T	c.(649-651)acC>acT	p.T217T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	217										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)				CACAATTATGGGTGTCATAGT	0.413																																																	0								ENSG00000183559						116	96	103					10																	124457606		2203	4300	6503	C10orf120	SO:0001819	synonymous_variant	0			-	HGNC		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.651C>T	10.37:g.124457606G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	B2RU17	Silent	SNP							NULL	p.T217	ENST00000329446.4	37	c.651	CCDS31302.1	10																																																																																			-	NULL		0.413	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	protein_coding	OTTHUMT00000050803.1	G	NM_001010912	-		124457606	-1	no_errors	ENST00000329446	ensembl	human	known	74_37	silent	SNP	0.000	A	A	124457606	G	A	124457606	2	1	196	1	0	0	0	0	0	0	0	1	1592	1219	43	2		2	C10orf120	10	124457606	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	460643	124457606	11077141	1307	14579											
HMX2	3167	genome.wustl.edu	37	chr10	124909209	124909209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcgggctcgccctcgcCggggtccgagcggccgcggg	19	18	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:124909209C>T	ENST00000339992.3	+	2	649	c.392C>T	c.(391-393)cCg>cTg	p.P131L		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	131					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TCGCCCTCGCCGGGGTCCGAG	0.701																																																	0								ENSG00000188816						7	10	9					10																	124909209		1886	3982	5868	HMX2	SO:0001583	missense	0			-	HGNC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.392C>T	10.37:g.124909209C>T	ENSP00000341108:p.Pro131Leu	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	36	51.95	B2RNV5	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P131L	ENST00000339992.3	37	c.392	CCDS31305.1	10	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267955	0.40095	.	.	ENSG00000188816	ENST00000339992	D	0.95447	-3.71	4.79	4.79	0.61399	Homeodomain-related (1);	0.309804	0.32518	N	0.005990	D	0.91188	0.7224	L	0.32530	0.975	0.58432	D	0.999993	B	0.18310	0.027	B	0.09377	0.004	D	0.87914	0.2699	10	0.49607	T	0.09	.	11.5045	0.50456	0.0:0.9183:0.0:0.0817	.	131	A2RU54	HMX2_HUMAN	L	131	ENSP00000341108:P131L	ENSP00000341108:P131L	P	+	2	0	HMX2	124899199	0.988000	0.35896	0.996000	0.52242	0.271000	0.26615	4.301000	0.59086	2.475000	0.83589	0.655000	0.94253	CCG	-	NULL		0.701	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMX2	protein_coding	OTTHUMT00000050841.1	C	XM_370580	-		124909209	1	no_errors	ENST00000339992	ensembl	human	known	74_37	missense	SNP	0.981	T	T	124909209	C	T	124909209	3	4	196	1	0	0	0	0	1	0	0	0	7249	652	23	1	398	1	HMX2	10	124909209	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	451603	124909209	10625538	1308	14580											
BCCIP	55760	genome.wustl.edu	37	chr10	127541727	127541727	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaagtgacagccctggtttCtctgaaggctggactaattc	11	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:127541727C>G	ENST00000284690.3	-	5	1583				DHX32_ENST00000368721.1_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.S295C|DHX32_ENST00000284688.6_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32							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)				GCCCTGGTTTCTCTGAAGGCT	0.423																																																	0								ENSG00000107949						122	119	120					10																	127541727		2203	4300	6503	BCCIP	SO:0001627	intron_variant	0			-	HGNC		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.1093-516G>C	10.37:g.127541727C>G		Somatic	0	44	0		0.52429534266604	33	57.14	44	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP							NULL	p.S295C	ENST00000284690.3	37	c.884	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193930	0.22037	.	.	ENSG00000107949	ENST00000368759	T	0.49720	0.77	3.56	1.69	0.24217	.	0.411149	0.26753	N	0.022675	T	0.49729	0.1574	.	.	.	0.09310	N	1	D	0.61697	0.99	P	0.53450	0.726	T	0.39623	-0.9605	9	0.72032	D	0.01	-24.1733	5.9131	0.19039	0.0:0.7598:0.0:0.2402	.	295	Q9P287-2	.	C	295	ENSP00000357748:S295C	ENSP00000357748:S295C	S	+	2	0	BCCIP	127531717	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.633000	0.24598	0.507000	0.28148	0.655000	0.94253	TCT	-	NULL		0.423	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	protein_coding	OTTHUMT00000050945.2	C	NM_018180	-		127541727	1	no_errors	ENST00000368759	ensembl	human	known	74_37	missense	SNP	0.002	G	G	127541727	C	G	127541727	1	3	196	0	1	0	0	0	0	0	0	0	1356	913	32	4		4	BCCIP	10	127541727	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2632518	127541727	7993020	1309	14581											
DPYSL4	10570	genome.wustl.edu	37	chr10	134012440	134012440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaggtgatgagcaaggGggcggccgacgccatcgctc	15	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:134012440G>A	ENST00000338492.4	+	8	940	c.776G>A	c.(775-777)gGg>gAg	p.G259E	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G159E|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G159E	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	259					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGAGCAAGGGGGCGGCCGAC	0.672																																																	0								ENSG00000151640						80	65	70					10																	134012440		2202	4300	6502	DPYSL4	SO:0001583	missense	0			-	HGNC	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.776G>A	10.37:g.134012440G>A	ENSP00000339850:p.Gly259Glu	Somatic	0	23	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	30	33.33	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP							pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G259E	ENST00000338492.4	37	c.776	CCDS7665.1	10	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685135	0.29872	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.88586	-2.4;-2.4;-2.4	3.94	0.888	0.19206	Amidohydrolase 1 (1);	0.364758	0.28470	N	0.015222	D	0.82870	0.5131	N	0.13003	0.285	0.36667	D	0.878284	D	0.54207	0.965	P	0.53722	0.733	T	0.80630	-0.1297	10	0.31617	T	0.26	-12.4378	9.3147	0.37926	0.082:0.2869:0.6311:0.0	.	259	O14531	DPYL4_HUMAN	E	259;159;159	ENSP00000339850:G259E;ENSP00000357618:G159E;ENSP00000357616:G159E	ENSP00000339850:G259E	G	+	2	0	DPYSL4	133862430	0.009000	0.17119	0.496000	0.27539	0.314000	0.28054	1.433000	0.34947	0.399000	0.25367	0.555000	0.69702	GGG	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	protein_coding	OTTHUMT00000051050.2	G		-		134012440	1	no_errors	ENST00000338492	ensembl	human	known	74_37	missense	SNP	0.963	A	A	134012440	G	A	134012440	3	1	196	1	0	0	0	0	1	0	0	0	4751	1232	43	2	806	2	DPYSL4	10	134012440	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6470713	134012440	1522307	1310	14582											
C10orf93	54777	genome.wustl.edu	37	chr10	134751129	134751129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgccgtggagcagaacCtggcagcctcctcctttctt	11	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:134751129C>T	ENST00000368586.5	-	6	687	c.587G>A	c.(586-588)aGg>aAg	p.R196K	TTC40_ENST00000368582.2_Missense_Mutation_p.R196K|TTC40_ENST00000368585.3_Missense_Mutation_p.R196K	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGAGCAGAACCTGGCAGCCTC	0.468																																																	0								ENSG00000171811						89	93	91					10																	134751129		2203	4300	6503	TTC40	SO:0001583	missense	0			-	HGNC																												ENST00000368586.5:c.587G>A	10.37:g.134751129C>T	ENSP00000357575:p.Arg196Lys	Somatic	0	37	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06		Missense_Mutation	SNP							NULL	p.R196K	ENST00000368586.5	37	c.587	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.658842	0.00772	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.82619	-1.63;-1.63;-1.63	4.74	-0.825	0.10809	.	1.136450	0.06573	N	0.748840	T	0.50309	0.1608	N	0.00801	-1.175	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.50634	-0.8805	10	0.02654	T	1	.	5.7641	0.18217	0.0:0.2271:0.1301:0.6428	.	196;196	Q5SR76-2;Q5SR76-1	.;.	K	196	ENSP00000357575:R196K;ENSP00000357571:R196K;ENSP00000357574:R196K	ENSP00000357571:R196K	R	-	2	0	C10orf93	134601119	0.000000	0.05858	0.007000	0.13788	0.085000	0.17905	0.066000	0.14489	-0.349000	0.08274	-0.781000	0.03364	AGG	-	NULL		0.468	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	protein_coding	OTTHUMT00000051095.3	C		-		134751129	-1	no_errors	ENST00000368582	ensembl	human	known	74_37	missense	SNP	0.093	T	T	134751129	C	T	134751129	3	4	196	1	0	0	0	0	1	0	0	0	1627	681	24	2	646	2	C10orf93	10	134751129	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	738689	134751129	783618	1311	14583											
KNDC1	85442	genome.wustl.edu	37	chr10	135025213	135025213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacggctctgccaagcacCtgctgggcctcctggaggtg	15	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:135025213C>T	ENST00000304613.3	+	23	4108	c.4087C>T	c.(4087-4089)Ctg>Ttg	p.L1363L	KNDC1_ENST00000368572.2_Silent_p.L1365L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1363	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGCCAAGCACCTGCTGGGCCT	0.692																																																	0								ENSG00000171798						45	44	45					10																	135025213		2203	4300	6503	KNDC1	SO:0001819	synonymous_variant	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4087C>T	10.37:g.135025213C>T		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L1365	ENST00000304613.3	37	c.4093	CCDS7674.1	10																																																																																			-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.692	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	C	NM_152643	-		135025213	1	no_errors	ENST00000368572	ensembl	human	known	74_37	silent	SNP	1.000	T	T	135025213	C	T	135025213	2	4	196	1	0	0	0	0	0	0	0	1	8428	680	24	2		2	KNDC1	10	135025213	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	274084	135025213	509534	1312	14584											
CYP2E1	1571	genome.wustl.edu	37	chr10	135350608	135350608	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtgattgggccaagcCgaatccctgccatcaaggat	12	11	1	1	rs200228968		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:135350608C>T	ENST00000463117.2	+	9	1281	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.R337*			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	337					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|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)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGGGCCAAGCCGAATCCCTGC	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				.|||	1	0.000199681	0	0	5008	,	,		17203	0.001		0	False		,,,				2504	0																0								ENSG00000130649						127	102	111					10																	135350608		2203	4300	6503	CYP2E1	SO:0001587	stop_gained	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	GMAF=0.0005	HGNC	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1009C>T	10.37:g.135350608C>T	ENSP00000440689:p.Arg337*	Somatic	0	30	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	Q5VZD5|Q6NWT9|Q9UK47	Nonsense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R337*	ENST00000463117.2	37	c.1009	CCDS7686.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.96	1.793139	0.31685	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	.	.	.	4.49	2.55	0.30701	.	0.196719	0.44285	D	0.000469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4684	0.44622	0.5127:0.4873:0.0:0.0	.	.	.	.	X	337;337;250;200	.	ENSP00000252945:R337X	R	+	1	2	CYP2E1	135200598	0.138000	0.22547	0.008000	0.14137	0.003000	0.03518	0.548000	0.23314	0.595000	0.29777	0.598000	0.82781	CGA	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like		0.527	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	protein_coding	OTTHUMT00000051161.2	C	NM_000773	rs200228968		135350608	1	no_errors	ENST00000252945	ensembl	human	known	74_37	nonsense	SNP	0.042	T	T	135350608	C	T	135350608	4	4	196	1	0	0	0	0	0	1	0	0	4172	644	23	1	1035	1	CYP2E1	10	135350608	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	325395	135350608	184139	1313	14585											
IFITM5	387733	genome.wustl.edu	37	chr11	299458	299458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgctgggcgtgggggcCcgggtgtcctcgcggggata	20	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:299458C>T	ENST00000382614.2	-	1	68	c.33G>A	c.(31-33)cgG>cgA	p.R11R		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	11					bone mineralization (GO:0030282)|regulation of bone mineralization (GO:0030500)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGTGGGGGCCCGGGTGTCCT	0.687																																																	0								ENSG00000206013						22	21	21					11																	299458		2160	4259	6419	IFITM5	SO:0001819	synonymous_variant	0			-	HGNC	AA463818, CR747200, DY654432	CCDS31323.1	11p15.5	2010-05-12			ENSG00000206013	ENSG00000206013			16644	protein-coding gene	gene with protein product		614757				11106657, 12659663, 18442316	Standard	NM_001025295		Approved	fragilis4, Hrmp1, BRIL	uc001low.2	A6NNB3	OTTHUMG00000165355	ENST00000382614.2:c.33G>A	11.37:g.299458C>T		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92		Silent	SNP							pfam_CD225/Dispanin_fam	p.R11	ENST00000382614.2	37	c.33	CCDS31323.1	11																																																																																			-	NULL		0.687	IFITM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM5	protein_coding	OTTHUMT00000383588.1	C	NM_001025295	-		299458	-1	no_errors	ENST00000382614	ensembl	human	known	74_37	silent	SNP	0.583	T	T	299458	C	T	299458	2	4	196	1	0	0	0	0	0	0	0	1	7531	610	22	2		2	IFITM5	11	299458	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		299458	134707058	1314	14586											
SIGIRR	59307	genome.wustl.edu	37	chr11	405992	405992	+	Silent	SNP	C	C	T													tccacttcgctgctccggctCtctcccagcgagaccccact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:405992C>T	ENST00000431843.2	-	10	1443	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	SIGIRR_ENST00000531205.1_Missense_Mutation_p.E476K|SIGIRR_ENST00000397632.3_Silent_p.E379E|SIGIRR_ENST00000382520.2_Missense_Mutation_p.E476K|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Silent_p.E379E	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	379					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTCCGGCTCTCTCCCAGCG	0.632																																																	0								ENSG00000185187						43	36	38					11																	405992		2198	4291	6489	SIGIRR	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1137G>A	11.37:g.405992C>T		Somatic	0	71	0		0.52429534266604	262	34.66	139	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	56	30.00	Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.E476K	ENST00000431843.2	37	c.1426	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.45|14.45	2.538804|2.538804	0.45176|0.45176	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.03920|.	3.76;3.76|.	3.56|3.56	2.61|2.61	0.31194|0.31194	.|.	.|.	.|.	.|.	.|.	T|T	0.25717|0.25717	0.0626|0.0626	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.14587|0.14587	-1.0467|-1.0467	8|4	0.87932|.	D|.	0|.	.|.	4.6317|4.6317	0.12506|0.12506	0.0:0.5946:0.2044:0.2009|0.0:0.5946:0.2044:0.2009	.|.	476|.	C9JFX4|.	.|.	K|K	476|111	ENSP00000433022:E476K;ENSP00000371960:E476K|.	ENSP00000371960:E476K|.	E|R	-|-	1|2	0|0	SIGIRR|SIGIRR	395992|395992	0.000000|0.000000	0.05858|0.05858	0.119000|0.119000	0.21687|0.21687	0.854000|0.854000	0.48673|0.48673	-0.443000|-0.443000	0.06862|0.06862	1.743000|1.743000	0.51761|0.51761	0.485000|0.485000	0.47835|0.47835	GAG|AGA	-	NULL		0.632	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	protein_coding	OTTHUMT00000383884.3	C	NM_021805	-		405992	-1	no_errors	ENST00000382520	ensembl	human	known	74_37	missense	SNP	0.081	T	T	405992	C	T	405992	2	4	196	1	0	0	0	0	0	0	0	1	14312	912	32	2		2	SIGIRR	11	405992	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	106534	405992	134600524	1315	14587	298	2									
SIGIRR	59307	genome.wustl.edu	37	chr11	405994	405994	+	Missense_Mutation	SNP	C	C	T													cacttcgctgctccggctctCtcccagcgagaccccactgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:405994C>T	ENST00000431843.2	-	10	1441	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	SIGIRR_ENST00000531205.1_Missense_Mutation_p.R475K|SIGIRR_ENST00000397632.3_Missense_Mutation_p.E379K|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R475K|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Missense_Mutation_p.E379K	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	379					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCGGCTCTCTCCCAGCGAG	0.627																																																	0								ENSG00000185187						42	35	38					11																	405994		2198	4290	6488	SIGIRR	SO:0001583	missense	0			-	HGNC		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1135G>A	11.37:g.405994C>T	ENSP00000403104:p.Glu379Lys	Somatic	0	71	0		0.52429534266604	264	34.98	142	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	56	30.00	Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.R475K	ENST00000431843.2	37	c.1424	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.87|16.87	3.240933|3.240933	0.58995|0.58995	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000528845;ENST00000431843;ENST00000397632;ENST00000332725|ENST00000531205;ENST00000382520	T;T;T|T;T	0.03772|0.03801	3.81;3.81;3.81|3.8;3.8	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	.|.	.|.	.|.	.|.	T|T	0.05731|0.05731	0.0150|0.0150	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B|P	0.30851|0.41673	0.297|0.759	B|B	0.33890|0.29176	0.172|0.099	T|T	0.30937|0.30937	-0.9961|-0.9961	9|8	0.66056|.	D|.	0.02|.	.|.	13.3792|13.3792	0.60759|0.60759	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	379|475	Q6IA17|C9JFX4	SIGIR_HUMAN|.	K|K	99;379;379;379|475	ENSP00000403104:E379K;ENSP00000380756:E379K;ENSP00000333656:E379K|ENSP00000433022:R475K;ENSP00000371960:R475K	ENSP00000333656:E379K|.	E|R	-|-	1|2	0|0	SIGIRR|SIGIRR	395994|395994	0.012000|0.012000	0.17670|0.17670	0.121000|0.121000	0.21740|0.21740	0.868000|0.868000	0.49771|0.49771	1.792000|1.792000	0.38754|0.38754	1.743000|1.743000	0.51761|0.51761	0.485000|0.485000	0.47835|0.47835	GAG|AGA	-	NULL		0.627	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	protein_coding	OTTHUMT00000383884.3	C	NM_021805	-		405994	-1	no_errors	ENST00000382520	ensembl	human	known	74_37	missense	SNP	0.213	T	T	405994	C	T	405994	3	4	196	1	0	0	0	0	1	0	0	0	14312	922	32	2	101	2	SIGIRR	11	405994	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	405994	134600522	1316	14588	298	2									
LRRC56	115399	genome.wustl.edu	37	chr11	540690	540690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgacatgtgaatggaTctgggctgggacagatcccg	16	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:540690T>A	ENST00000270115.7	+	4	506	c.6T>A	c.(4-6)gaT>gaA	p.D2E		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	2										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGAATGGATCTGGGCTGGG	0.657																																																	0								ENSG00000161328						47	48	48					11																	540690		2203	4300	6503	LRRC56	SO:0001583	missense	0			-	HGNC		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.6T>A	11.37:g.540690T>A	ENSP00000270115:p.Asp2Glu	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	47	44.71	Q8N3Q4	Missense_Mutation	SNP							NULL	p.D2E	ENST00000270115.7	37	c.6	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	N	8.392	0.840051	0.16891	.	.	ENSG00000161328	ENST00000270115	T	0.13307	2.6	4.88	0.48	0.16804	.	0.111898	0.39475	N	0.001349	T	0.09730	0.0239	L	0.60455	1.87	0.18873	N	0.999981	B	0.33528	0.416	B	0.23018	0.043	T	0.25047	-1.0143	10	0.27785	T	0.31	8.0623	5.8868	0.18886	0.0:0.5026:0.1305:0.3669	.	2	Q8IYG6	LRC56_HUMAN	E	2	ENSP00000270115:D2E	ENSP00000270115:D2E	D	+	3	2	LRRC56	530690	0.001000	0.12720	0.909000	0.35828	0.015000	0.08874	-0.752000	0.04797	-0.093000	0.12396	-0.934000	0.02701	GAT	-	NULL		0.657	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	protein_coding	OTTHUMT00000254969.1	T	NM_198075	-		540690	1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	SNP	0.189	A	A	540690	T	A	540690	3	1	196	1	0	0	0	0	1	0	0	0	9014	1432	50	5	8	5	LRRC56	11	540690	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	134696	540690	134465826	1317	14589											
LRRC56	115399	genome.wustl.edu	37	chr11	541617	541617	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcgtgagggcagcctgggGaactttggtgagcctcttcc	14	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:541617G>A	ENST00000270115.7	+	5	758	c.258G>A	c.(256-258)ggG>ggA	p.G86G		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	86										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCCTGGGGAACTTTGGTG	0.622																																																	0								ENSG00000161328						147	127	134					11																	541617		2203	4299	6502	LRRC56	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.258G>A	11.37:g.541617G>A		Somatic	0	26	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	25	44.44	Q8N3Q4	Silent	SNP							NULL	p.G86	ENST00000270115.7	37	c.258	CCDS7700.1	11																																																																																			-	NULL		0.622	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	protein_coding	OTTHUMT00000254969.1	G	NM_198075	-		541617	1	no_errors	ENST00000270115	ensembl	human	known	74_37	silent	SNP	0.992	A	A	541617	G	A	541617	2	1	196	1	0	0	0	0	0	0	0	1	9014	1161	41	2		2	LRRC56	11	541617	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	927	541617	134464899	1318	14590											
LRRC56	115399	genome.wustl.edu	37	chr11	552576	552576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccaccctagccccctcCcctataggcacccggagtcc	6	23	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:552576C>T	ENST00000270115.7	+	13	1689	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	397										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCCCCCTCCCCTATAGGCA	0.652																																																	0								ENSG00000161328						16	17	16					11																	552576		2177	4286	6463	LRRC56	SO:0001583	missense	0			-	HGNC		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1189C>T	11.37:g.552576C>T	ENSP00000270115:p.Pro397Ser	Somatic	0	109	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	139	20.11	Q8N3Q4	Missense_Mutation	SNP							NULL	p.P397S	ENST00000270115.7	37	c.1189	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	C	5.925	0.354684	0.11239	.	.	ENSG00000161328	ENST00000270115	T	0.07688	3.17	3.84	1.93	0.25924	.	0.361690	0.21208	N	0.078350	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.44952	-0.9294	10	0.06365	T	0.9	.	5.6009	0.17353	0.0:0.7495:0.0:0.2505	.	397	Q8IYG6	LRC56_HUMAN	S	397	ENSP00000270115:P397S	ENSP00000270115:P397S	P	+	1	0	LRRC56	542576	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.201000	0.17276	0.963000	0.38082	0.561000	0.74099	CCC	-	NULL		0.652	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	protein_coding	OTTHUMT00000254969.1	C	NM_198075	-		552576	1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	SNP	0.005	T	T	552576	C	T	552576	3	4	196	1	0	0	0	0	1	0	0	0	9014	623	22	2	1227	2	LRRC56	11	552576	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	10959	552576	134453940	1319	14591											
PNPLA2	57104	genome.wustl.edu	37	chr11	823582	823582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgcgctttctgcagcGgaacggtgcgcggacccggg	17	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:823582G>T	ENST00000336615.4	+	6	954	c.752G>T	c.(751-753)cGg>cTg	p.R251L	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	251					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTTCTGCAGCGGAACGGTGCG	0.677																																																	0								ENSG00000177666						32	30	31					11																	823582		2194	4297	6491	PNPLA2	SO:0001583	missense	0			-	HGNC	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"Patatin-like phospholipase domain containing"	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.752G>T	11.37:g.823582G>T	ENSP00000337701:p.Arg251Leu	Somatic	0	50	0		0.52429534266604	113	34.1	59	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	76	30.00	O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP							pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.R251L	ENST00000336615.4	37	c.752	CCDS7718.1	11	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738648	0.49045	.	.	ENSG00000177666	ENST00000336615	T	0.78481	-1.18	3.73	3.73	0.42828	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.117912	0.52532	D	0.000062	T	0.74183	0.3683	M	0.77313	2.365	0.38347	D	0.944224	P	0.44578	0.838	B	0.39068	0.289	T	0.79945	-0.1589	10	0.72032	D	0.01	-30.1164	8.1237	0.30986	0.1607:0.0:0.8393:0.0	.	251	Q96AD5	PLPL2_HUMAN	L	251	ENSP00000337701:R251L	ENSP00000337701:R251L	R	+	2	0	PNPLA2	813582	1.000000	0.71417	0.993000	0.49108	0.529000	0.34654	1.750000	0.38329	2.092000	0.63282	0.491000	0.48974	CGG	-	superfamily_Acyl_Trfase/lysoPLipase		0.677	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA2	protein_coding	OTTHUMT00000257106.1	G	NM_020376	-		823582	1	no_errors	ENST00000336615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	823582	G	T	823582	3	4	196	1	0	0	0	0	1	0	0	0	12167	1116	39	3	770	3	PNPLA2	11	823582	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	271006	823582	134182934	1320	14592											
MUC5B	727897	genome.wustl.edu	37	chr11	1256379	1256379	+	Missense_Mutation	SNP	G	G	A													tgggcacctgcgtggcctacGgggatggccacttcatcacc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1256379G>A	ENST00000529681.1	+	22	2753	c.2695G>A	c.(2695-2697)Ggg>Agg	p.G899R	MUC5B_ENST00000447027.1_Missense_Mutation_p.G902R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	899	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		CGTGGCCTACGGGGATGGCCA	0.652																																																	0								ENSG00000117983						56	66	63					11																	1256379		2112	4216	6328	MUC5B	SO:0001583	missense	0			-	HGNC	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.2695G>A	11.37:g.1256379G>A	ENSP00000436812:p.Gly899Arg	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G902R	ENST00000529681.1	37	c.2704	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303726	0.40795	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.67523	-0.27;-0.27	4.37	4.37	0.52481	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	D	0.87529	0.6200	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;1.0;1.0	D	0.91992	0.5604	9	0.87932	D	0	.	17.164	0.86810	0.0:0.0:1.0:0.0	.	899;1558;902	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	R	899;902;900;935	ENSP00000436812:G899R;ENSP00000415793:G902R	ENSP00000343037:G900R	G	+	1	0	MUC5B	1212955	1.000000	0.71417	0.493000	0.27502	0.359000	0.29487	6.635000	0.74295	2.270000	0.75569	0.555000	0.69702	GGG	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1256379	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1256379	G	A	1256379	3	1	196	1	0	0	0	0	1	0	0	0	9981	1116	39	1	2790	1	MUC5B	11	1256379	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	432797	1256379	133750137	1321	14593	299	3									
MUC5B	727897	genome.wustl.edu	37	chr11	1256380	1256380	+	Missense_Mutation	SNP	G	G	A													gggcacctgcgtggcctacgGggatggccacttcatcacct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1256380G>A	ENST00000529681.1	+	22	2754	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E	MUC5B_ENST00000447027.1_Missense_Mutation_p.G902E	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	899	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		GTGGCCTACGGGGATGGCCAC	0.652																																																	0								ENSG00000117983						58	67	64					11																	1256380		2114	4218	6332	MUC5B	SO:0001583	missense	0			-	HGNC	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.2696G>A	11.37:g.1256380G>A	ENSP00000436812:p.Gly899Glu	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G902E	ENST00000529681.1	37	c.2705	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209553	0.39003	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.65916	-0.18;-0.18	4.37	4.37	0.52481	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	D	0.85660	0.5748	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90879	0.4752	9	0.87932	D	0	.	17.164	0.86810	0.0:0.0:1.0:0.0	.	899;1558;902	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	E	899;902;900;935	ENSP00000436812:G899E;ENSP00000415793:G902E	ENSP00000343037:G900E	G	+	2	0	MUC5B	1212956	1.000000	0.71417	0.522000	0.27862	0.342000	0.28953	6.600000	0.74132	2.270000	0.75569	0.555000	0.69702	GGG	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1256380	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1256380	G	A	1256380	3	1	196	1	0	0	0	0	1	0	0	0	9981	1232	43	2	2791	2	MUC5B	11	1256380	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	1256380	133750136	1322	14594	299	3									
MUC5B	727897	genome.wustl.edu	37	chr11	1256382	1256382	+	Missense_Mutation	SNP	G	G	A													gcacctgcgtggcctacgggGatggccacttcatcaccttt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1256382G>A	ENST00000529681.1	+	22	2756	c.2698G>A	c.(2698-2700)Gat>Aat	p.D900N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D903N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	900	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		GGCCTACGGGGATGGCCACTT	0.647																																																	0								ENSG00000117983						58	69	65					11																	1256382		2128	4222	6350	MUC5B	SO:0001583	missense	0			-	HGNC	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.2698G>A	11.37:g.1256382G>A	ENSP00000436812:p.Asp900Asn	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.D903N	ENST00000529681.1	37	c.2707	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579184	0.46006	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.61040	0.14;0.14	4.37	4.37	0.52481	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	T	0.77246	0.4102	M	0.80847	2.515	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.77557	0.966;0.99;0.99	T	0.81837	-0.0749	9	0.87932	D	0	.	17.164	0.86810	0.0:0.0:1.0:0.0	.	900;1559;903	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	900;903;901;936	ENSP00000436812:D900N;ENSP00000415793:D903N	ENSP00000343037:D901N	D	+	1	0	MUC5B	1212958	0.996000	0.38824	0.580000	0.28601	0.307000	0.27823	4.795000	0.62489	2.270000	0.75569	0.555000	0.69702	GAT	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1256382	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1256382	G	A	1256382	3	1	196	1	0	0	0	0	1	0	0	0	9981	1174	41	2	2793	2	MUC5B	11	1256382	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2	1256382	133750134	1323	14595	299	3									
MUC5B	727897	genome.wustl.edu	37	chr11	1264737	1264737	+	Silent	SNP	G	G	A													ccccccagcagtccccacacGgtgcgcacagcctggacttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1264737G>A	ENST00000529681.1	+	31	6685	c.6627G>A	c.(6625-6627)acG>acA	p.T2209T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2212T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2209	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)		GTCCCCACACGGTGCGCACAG	0.662																																																	0								ENSG00000117983						71	80	77					11																	1264737		2034	4159	6193	MUC5B	SO:0001819	synonymous_variant	0			-	HGNC	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.6627G>A	11.37:g.1264737G>A		Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	67	25.56	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T2212	ENST00000529681.1	37	c.6636	CCDS44515.2	11																																																																																			-	NULL		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1264737	1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	SNP	0.000	A	A	1264737	G	A	1264737	2	1	196	1	0	0	0	0	0	0	0	1	9981	1103	39	1		1	MUC5B	11	1264737	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8355	1264737	133741779	1324	14596	300	2									
MUC5B	727897	genome.wustl.edu	37	chr11	1264738	1264738	+	Missense_Mutation	SNP	G	G	A													cccccagcagtccccacacgGtgcgcacagcctggacttcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1264738G>A	ENST00000529681.1	+	31	6686	c.6628G>A	c.(6628-6630)Gtg>Atg	p.V2210M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V2213M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2210	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)		TCCCCACACGGTGCGCACAGC	0.667																																																	0								ENSG00000117983						73	81	79					11																	1264738		2035	4161	6196	MUC5B	SO:0001583	missense	0			-	HGNC	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.6628G>A	11.37:g.1264738G>A	ENSP00000436812:p.Val2210Met	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V2213M	ENST00000529681.1	37	c.6637	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	7.372	0.626962	0.14257	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21734	1.99;2.17	1.83	-1.65	0.08291	.	.	.	.	.	T	0.20129	0.0484	L	0.50333	1.59	0.09310	N	1	P;P	0.50156	0.932;0.932	P;P	0.47528	0.549;0.549	T	0.13255	-1.0516	9	0.87932	D	0	.	2.7904	0.05386	0.3297:0.0:0.4527:0.2177	.	2848;2213	A7Y9J9;E9PBJ0	.;.	M	2210;2213;2211;2225	ENSP00000436812:V2210M;ENSP00000415793:V2213M	ENSP00000343037:V2211M	V	+	1	0	MUC5B	1221314	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.337000	0.00130	-0.468000	0.06922	0.305000	0.20034	GTG	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1264738	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.000	A	A	1264738	G	A	1264738	3	1	196	1	0	0	0	0	1	0	0	0	9981	1261	44	2	6759	2	MUC5B	11	1264738	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	1264738	133741778	1325	14597	300	2									
CTSD	1509	genome.wustl.edu	37	chr11	1778663	1778663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggggtaggccatgcccaGgatgccatcgaacttggctg	16	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1778663G>A	ENST00000236671.2	-	5	727	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_Silent_p.S69S	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	199					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCCATGCCCAGGATGCCATCG	0.592																																																	0								ENSG00000117984						211	137	162					11																	1778663		2202	4299	6501	CTSD	SO:0001819	synonymous_variant	0			-	HGNC	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.595C>T	11.37:g.1778663G>A		Somatic	0	36	0		0.52429534266604	2786	12.2	388	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	Q6IB57	Silent	SNP							pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L199	ENST00000236671.2	37	c.595	CCDS7725.1	11																																																																																			-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.592	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	protein_coding	OTTHUMT00000104272.5	G	NM_001909	-		1778663	-1	no_errors	ENST00000236671	ensembl	human	known	74_37	silent	SNP	1.000	A	A	1778663	G	A	1778663	2	1	196	1	0	0	0	0	0	0	0	1	4034	991	35	2		2	CTSD	11	1778663	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	513925	1778663	133227853	1326	14598											
TRPM5	29850	genome.wustl.edu	37	chr11	2443398	2443398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagccgccttcaccagccCcttgcgcagcacatcccgca	8	20	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:2443398C>T	ENST00000155858.6	-	2	279	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	TRPM5_ENST00000452833.1_Missense_Mutation_p.G91R|TRPM5_ENST00000528453.1_Missense_Mutation_p.G91R|TRPM5_ENST00000533060.1_Missense_Mutation_p.G91R	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCACCAGCCCCTTGCGCAGC	0.697																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						35	34	34					11																	2443398		2202	4296	6498	TRPM5	SO:0001583	missense	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.271G>A	11.37:g.2443398C>T	ENSP00000155858:p.Gly91Arg	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98		Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.G91R	ENST00000155858.6	37	c.271	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	c	20.4	3.991891	0.74703	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	2.79	2.79	0.32731	.	0.000000	0.64402	U	0.000008	T	0.44912	0.1316	M	0.88906	2.99	0.48975	D	0.999739	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.993;0.993;0.995	T	0.55623	-0.8112	10	0.87932	D	0	-30.1611	11.7816	0.52018	0.0:1.0:0.0:0.0	.	91;91;91	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	R	83;91;91;91;91;91	ENSP00000434383:G83R;ENSP00000155858:G91R;ENSP00000387965:G91R;ENSP00000434121:G91R;ENSP00000436809:G91R	ENSP00000155858:G91R	G	-	1	0	TRPM5	2399974	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.391000	0.66266	1.897000	0.54924	0.586000	0.80456	GGG	-	NULL		0.697	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	C	NM_014555	-		2443398	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2443398	C	T	2443398	3	4	196	1	0	0	0	0	1	0	0	0	16596	623	22	2	3318	2	TRPM5	11	2443398	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	664735	2443398	132563118	1327	14599											
KCNQ1	3784	genome.wustl.edu	37	chr11	2797203	2797203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagcaagcgcggaagcCttacgatgtgcgggacgtca	14	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:2797203C>G	ENST00000155840.5	+	13	1712	c.1604C>G	c.(1603-1605)cCt>cGt	p.P535R	KCNQ1_ENST00000335475.5_Missense_Mutation_p.P408R	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	535					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCGCGGAAGCCTTACGATGTG	0.607																																																	0								ENSG00000053918						87	69	75					11																	2797203		2189	4271	6460	KCNQ1	SO:0001583	missense	0			-	HGNC	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1604C>G	11.37:g.2797203C>G	ENSP00000155840:p.Pro535Arg	Somatic	0	32	0		0.52429534266604	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P535R	ENST00000155840.5	37	c.1604	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658836	0.67586	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99912	-7.95;-7.95	3.78	3.78	0.43462	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.993	D	0.95663	0.8717	10	0.87932	D	0	-21.9027	13.4993	0.61445	0.0:1.0:0.0:0.0	.	408;408;535	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	R	535;408	ENSP00000155840:P535R;ENSP00000334497:P408R	ENSP00000155840:P535R	P	+	2	0	KCNQ1	2753779	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	6.995000	0.76257	2.118000	0.64928	0.561000	0.74099	CCT	-	pfam_K_chnl_volt-dep_KCNQ_C		0.607	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	protein_coding	OTTHUMT00000027382.2	C	NM_000218	-		2797203	1	no_errors	ENST00000155840	ensembl	human	known	74_37	missense	SNP	1.000	G	G	2797203	C	G	2797203	3	3	196	1	0	0	0	0	1	0	0	0	8084	681	24	4	1663	4	KCNQ1	11	2797203	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	353805	2797203	132209313	1328	14600											
OR52K2	119774	genome.wustl.edu	37	chr11	4470782	4470782	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggccatgttggcagccatCgacctggtcctttcctcctc	9	16	0	0	rs143954018	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:4470782C>T	ENST00000325719.4	+	1	258	c.213C>T	c.(211-213)atC>atT	p.I71I	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	71						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(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAGCCATCGACCTGGTCC	0.532													C|||	3	0.000599042	0	0.0014	5008	,	,		23376	0		0	False		,,,				2504	0.002																0								ENSG00000181963	C		0,4402		0,0,2201	157	132	140		213	-1.1	0.8	11	dbSNP_134	140	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR52K2	NM_001005172.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		71/315	4470782	1,12997	2201	4298	6499	OR52K2	SO:0001819	synonymous_variant	0			-	HGNC	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.213C>T	11.37:g.4470782C>T		Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	62	32.61	A8MUY8|B2RP35|Q6IFK4	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I71	ENST00000325719.4	37	c.213	CCDS31351.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	protein_coding	OTTHUMT00000385844.1	C	NM_001005172	rs143954018		4470782	1	no_errors	ENST00000325719	ensembl	human	known	74_37	silent	SNP	0.969	T	T	4470782	C	T	4470782	2	4	196	1	0	0	0	0	0	0	0	1	11126	874	31	1		1	OR52K2	11	4470782	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1673579	4470782	130535734	1329	14601											
OR52R1	119695	genome.wustl.edu	37	chr11	4824749	4824749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgatggggttgagcatggGaggtatcagtagatagagat	16	2	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:4824749G>A	ENST00000356069.2	-	1	861	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.P367S|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	288						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGAGCATGGGAGGTATCAGT	0.473																																																	0								ENSG00000176937						128	129	128					11																	4824749		2201	4298	6499	OR52R1	SO:0001583	missense	0			-	HGNC	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.862C>T	11.37:g.4824749G>A	ENSP00000348368:p.Pro288Ser	Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	113	16.30	Q6IFI0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P367S	ENST00000356069.2	37	c.1099	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576715	0.65878	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00330	8.08;8.08	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000155	T	0.00412	0.0013	M	0.64630	1.985	0.47737	D	0.999503	B	0.31459	0.324	B	0.36464	0.225	T	0.79718	-0.1686	10	0.87932	D	0	.	18.291	0.90130	0.0:0.0:1.0:0.0	.	288	Q8NGF1	O52R1_HUMAN	S	288;367	ENSP00000348368:P288S;ENSP00000369742:P367S	ENSP00000348368:P288S	P	-	1	0	OR52R1	4781325	0.995000	0.38212	1.000000	0.80357	0.716000	0.41182	2.187000	0.42602	2.902000	0.99343	0.650000	0.86243	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	protein_coding	OTTHUMT00000142183.1	G	NM_001005177	-		4824749	-1	no_errors	ENST00000380382	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4824749	G	A	4824749	3	1	196	1	0	0	0	0	1	0	0	0	11133	1174	41	2	88	2	OR52R1	11	4824749	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	353967	4824749	130181767	1330	14602											
MMP26	56547	genome.wustl.edu	37	chr11	5011940	5011940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattccagcaagtgcagaatGgagatgcagacatcaaggtt	11	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5011940G>A	ENST00000380390.1	+	4	649	c.433G>A	c.(433-435)Gga>Aga	p.G145R	MMP26_ENST00000300762.1_Missense_Mutation_p.G145R			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	145					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	AGTGCAGAATGGAGATGCAGA	0.433																																																	0								ENSG00000167346						111	107	108					11																	5011940		2201	4298	6499	MMP26	SO:0001583	missense	0			-	HGNC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.433G>A	11.37:g.5011940G>A	ENSP00000369753:p.Gly145Arg	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	55	21.43	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP							pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.G145R	ENST00000380390.1	37	c.433	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821187	0.16678	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.52754	0.65;0.65	4.0	-0.68	0.11346	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.006310	0.08018	N	0.991463	T	0.48995	0.1531	M	0.64170	1.965	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.53802	-0.8387	10	0.72032	D	0.01	-1.0E-4	16.7405	0.85458	0.0:0.244:0.756:0.0	.	145	Q9NRE1	MMP26_HUMAN	R	145	ENSP00000369753:G145R;ENSP00000300762:G145R	ENSP00000300762:G145R	G	+	1	0	MMP26	4968516	0.001000	0.12720	0.024000	0.17045	0.573000	0.36030	0.383000	0.20651	-0.113000	0.11958	0.650000	0.86243	GGA	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.433	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	protein_coding	OTTHUMT00000142058.3	G	NM_021801	-		5011940	1	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	SNP	0.000	A	A	5011940	G	A	5011940	3	1	196	1	0	0	0	0	1	0	0	0	9665	1349	47	2	443	2	MMP26	11	5011940	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	187191	5011940	129994576	1331	14603											
OR52E2	119678	genome.wustl.edu	37	chr11	5080082	5080082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagcgatgagtcataaagGaaaagagggctggtgtatag	14	4	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5080082G>A	ENST00000321522.2	-	1	775	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCATAAAGGAAAAGAGGGC	0.473																																																	0								ENSG00000176787						90	90	90					11																	5080082		2201	4298	6499	OR52E2	SO:0001583	missense	0			-	HGNC	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.776C>T	11.37:g.5080082G>A	ENSP00000322088:p.Ser259Phe	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	58	32.56		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S259F	ENST00000321522.2	37	c.776	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611254	0.46631	.	.	ENSG00000176787	ENST00000321522	T	0.00107	8.72	3.76	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.130592	0.35320	N	0.003288	T	0.00496	0.0016	M	0.88979	2.995	0.23304	N	0.997941	D	0.89917	1.0	D	0.85130	0.997	T	0.29549	-1.0008	10	0.87932	D	0	.	9.7668	0.40565	0.1028:0.0:0.8972:0.0	.	259	Q8NGJ4	O52E2_HUMAN	F	259	ENSP00000322088:S259F	ENSP00000322088:S259F	S	-	2	0	OR52E2	5036658	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.475000	0.22164	2.425000	0.82216	0.644000	0.83932	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	protein_coding	OTTHUMT00000142815.1	G	NM_001005164	-		5080082	-1	no_errors	ENST00000321522	ensembl	human	known	74_37	missense	SNP	0.505	A	A	5080082	G	A	5080082	3	1	196	1	0	0	0	0	1	0	0	0	11117	1174	41	2	204	2	OR52E2	11	5080082	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	68142	5080082	129926434	1332	14604											
HBD	3045	genome.wustl.edu	37	chr11	5255235	5255235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcaccctgaagttctcagGatccacgtgcagcttgtcac	8	14	3	1	rs528751190		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5255235G>A	ENST00000380299.3	-	2	515	c.301C>T	c.(301-303)Cct>Tct	p.P101S	HBD_ENST00000292901.3_Missense_Mutation_p.P101S	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	101					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTTCTCAGGATCCACGTGC	0.478													G|||	1	0.000199681	0	0	5008	,	,		18111	0		0	False		,,,				2504	0.001																0								ENSG00000223609						103	89	94					11																	5255235		2201	4298	6499	HBD	SO:0001583	missense	0			-	HGNC	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.301C>T	11.37:g.5255235G>A	ENSP00000369654:p.Pro101Ser	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	127	13.01	Q3Y5H3|Q8WXT7	Missense_Mutation	SNP							pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin	p.P101S	ENST00000380299.3	37	c.301	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	.	20.5	3.998964	0.74818	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.94280	-3.39;-3.39;-3.39	4.43	3.52	0.40303	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.95504	3.68	0.58432	D	0.999998	D	0.56746	0.977	D	0.64410	0.925	D	0.97409	1.0001	10	0.72032	D	0.01	-11.2901	11.5515	0.50723	0.089:0.0:0.911:0.0	.	101	P02042	HBD_HUMAN	S	101	ENSP00000292901:P101S;ENSP00000369654:P101S;ENSP00000393810:P101S	ENSP00000292901:P101S	P	-	1	0	HBD	5211811	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.884000	0.69729	1.218000	0.43458	0.655000	0.94253	CCT	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin		0.478	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	protein_coding	OTTHUMT00000142970.1	G	NM_000519	-		5255235	-1	no_errors	ENST00000380299	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5255235	G	A	5255235	3	1	196	1	0	0	0	0	1	0	0	0	6981	1174	41	2	150	2	HBD	11	5255235	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	175153	5255235	129751281	1333	14605											
HBG1	3047	genome.wustl.edu	37	chr11	5269676	5269676	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggggtgaattctttgccGaaatggattgccaaaacggt	12	7	2	1	rs374656432		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5269676G>A	ENST00000330597.3	-	3	444	c.357C>T	c.(355-357)ttC>ttT	p.F119F	CTD-2643I7.1_ENST00000564523.1_RNA	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	119					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCTTTGCCGAAATGGATTG	0.527																																					Ovarian(117;2080 2193 33416 49679)												0								ENSG00000213934	A		0,4402		0,0,2201	50	49	49		357	0	0	11		49	1,8587	817.8+/-406.9	0,1,4293	no	coding-synonymous	HBG1	NM_000559.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		119/148	5269676	1,12989	2201	4294	6495	HBG1	SO:0001819	synonymous_variant	0			-	HGNC	M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.357C>T	11.37:g.5269676G>A		Somatic	0	64	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	116	11.45	P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Silent	SNP							pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.F119	ENST00000330597.3	37	c.357	CCDS7754.1	11																																																																																			-	superfamily_Globin-like,pfscan_Globin		0.527	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG1	protein_coding	OTTHUMT00000142982.1	G	NM_000559	-		5269676	-1	no_errors	ENST00000330597	ensembl	human	known	74_37	silent	SNP	0.003	A	A	5269676	G	A	5269676	2	1	196	1	0	0	0	0	0	0	0	1	6984	1049	37	1		1	HBG1	11	5269676	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	14441	5269676	129736840	1334	14606											
OR51B5	282763	genome.wustl.edu	37	chr11	5363996	5363996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaatcagagacaatccaatCactgtgacataaaaaaccag	6	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5363996C>T	ENST00000300773.2	-	1	813	c.759G>A	c.(757-759)gtG>gtA	p.V253V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	253					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)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAATCCAATCACTGTGACAT	0.448																																																	0								ENSG00000242180						110	105	107					11																	5363996		2201	4297	6498	OR51B5	SO:0001819	synonymous_variant	0			-	HGNC	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.759G>A	11.37:g.5363996C>T		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	B2RN59	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V253	ENST00000300773.2	37	c.759	CCDS31378.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	protein_coding	OTTHUMT00000142975.1	C	NM_001005567	-		5363996	-1	no_errors	ENST00000300773	ensembl	human	known	74_37	silent	SNP	0.011	T	T	5363996	C	T	5363996	2	4	196	1	0	0	0	0	0	0	0	1	11093	813	29	2		2	OR51B5	11	5363996	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	94320	5363996	129642520	1335	14607											
OR51B6	390058	genome.wustl.edu	37	chr11	5373240	5373240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactggtttccctactgtcGatcccatgtactctcccatg	6	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5373240G>A	ENST00000380219.1	+	1	503	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	168					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)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTACTGTCGATCCCATGTA	0.473																																																	0								ENSG00000176239						233	189	204					11																	5373240		2201	4297	6498	OR51B6	SO:0001583	missense	0			-	HGNC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.503G>A	11.37:g.5373240G>A	ENSP00000369568:p.Arg168Gln	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	39	40.91		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.R168Q	ENST00000380219.1	37	c.503	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701889	0.30232	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00099	8.73	5.15	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.740232	0.11553	N	0.552563	T	0.00109	0.0003	N	0.21617	0.685	0.09310	N	1	B	0.21821	0.061	B	0.16289	0.015	T	0.02925	-1.1093	10	0.37606	T	0.19	.	9.8595	0.41105	0.5026:0.0:0.4974:0.0	.	168	Q9H340	O51B6_HUMAN	Q	167;168	ENSP00000369568:R168Q	ENSP00000369568:R168Q	R	+	2	0	OR51B6	5329816	0.000000	0.05858	0.060000	0.19600	0.783000	0.44284	0.173000	0.16724	0.004000	0.14682	0.557000	0.71058	CGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	protein_coding	OTTHUMT00000142960.1	G	NM_001004750	-		5373240	1	no_errors	ENST00000380219	ensembl	human	known	74_37	missense	SNP	0.010	A	A	5373240	G	A	5373240	3	1	196	1	0	0	0	0	1	0	0	0	11094	1058	37	1	505	1	OR51B6	11	5373240	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9244	5373240	129633276	1336	14608											
UBQLN3	50613	genome.wustl.edu	37	chr11	5529648	5529648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgagggtgacgatggggGaactctgtttactgatggtg	17	4	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5529648G>A	ENST00000311659.4	-	2	1288	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	381										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGATGGGGGAACTCTGTTT	0.572																																					Ovarian(72;684 1260 12332 41642 52180)												0								ENSG00000175520						148	154	152					11																	5529648		2201	4297	6498	UBQLN3	SO:0001583	missense	0			-	HGNC	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1141C>T	11.37:g.5529648G>A	ENSP00000347997:p.Pro381Ser	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	63	28.89	Q9NRE0	Missense_Mutation	SNP							pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.P381S	ENST00000311659.4	37	c.1141	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	G	2.883	-0.231379	0.05983	.	.	ENSG00000175520	ENST00000311659	T	0.35236	1.32	4.89	1.94	0.25998	.	0.488662	0.17388	N	0.176050	T	0.35885	0.0947	M	0.80028	2.48	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.40794	-0.9544	10	0.66056	D	0.02	-35.647	4.3163	0.10995	0.1895:0.0:0.6301:0.1804	.	381	Q9H347	UBQL3_HUMAN	S	381	ENSP00000347997:P381S	ENSP00000347997:P381S	P	-	1	0	UBQLN3	5486224	0.588000	0.26799	0.025000	0.17156	0.100000	0.18952	1.547000	0.36190	0.327000	0.23409	-0.136000	0.14681	CCC	-	NULL		0.572	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	protein_coding	OTTHUMT00000143348.1	G	NM_017481	-		5529648	-1	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	SNP	0.033	A	A	5529648	G	A	5529648	3	1	196	1	0	0	0	0	1	0	0	0	16905	1174	41	2	830	2	UBQLN3	11	5529648	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	156408	5529648	129476868	1337	14609											
OR52B6	340980	genome.wustl.edu	37	chr11	5603071	5603071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactaagccaatactggaagGggctaagcagatgttttcaa	11	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5603071G>T	ENST00000345043.2	+	1	965	c.965G>T	c.(964-966)gGg>gTg	p.G322V	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	322						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)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACTGGAAGGGGCTAAGCAG	0.418																																																	0								ENSG00000187747						166	148	154					11																	5603071		1899	4117	6016	OR52B6	SO:0001583	missense	0			-	HGNC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.965G>T	11.37:g.5603071G>T	ENSP00000341581:p.Gly322Val	Somatic	0	96	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	45	36.99	Q6IFI7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G322V	ENST00000345043.2	37	c.965	CCDS41611.1	11	.	.	.	.	.	.	.	.	.	.	G	8.382	0.837724	0.16891	.	.	ENSG00000187747	ENST00000345043	T	0.36699	1.24	4.19	3.28	0.37604	.	0.397160	0.18328	U	0.144585	T	0.22003	0.0530	N	0.21097	0.63	0.42764	D	0.993815	B	0.31931	0.347	B	0.26202	0.067	T	0.06110	-1.0845	10	0.44086	T	0.13	.	9.2812	0.37729	0.1067:0.0:0.8933:0.0	.	322	Q8NGF0	O52B6_HUMAN	V	322	ENSP00000341581:G322V	ENSP00000341581:G322V	G	+	2	0	OR52B6	5559647	1.000000	0.71417	0.949000	0.38748	0.042000	0.13812	1.733000	0.38156	0.992000	0.38840	0.579000	0.79373	GGG	-	NULL		0.418	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B6	protein_coding	OTTHUMT00000143397.1	G	NM_001005162	-		5603071	1	no_errors	ENST00000345043	ensembl	human	known	74_37	missense	SNP	0.818	T	T	5603071	G	T	5603071	3	4	196	1	0	0	0	0	1	0	0	0	11115	1232	43	3	967	3	OR52B6	11	5603071	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	73423	5603071	129403445	1338	14610											
OR56B1	387748	genome.wustl.edu	37	chr11	5758028	5758028	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctaagatcctggccatcttCtggtttgatgccaaggttat	9	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5758028C>T	ENST00000317121.3	+	1	348	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGGCCATCTTCTGGTTTGATG	0.473																																																	0								ENSG00000181023						185	163	170					11																	5758028		2201	4297	6498	OR56B1	SO:0001819	synonymous_variant	0			-	HGNC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.282C>T	11.37:g.5758028C>T		Somatic	0	45	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	B2RNY6|B3KV42|Q6IF76	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F94	ENST00000317121.3	37	c.282	CCDS31395.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	protein_coding	OTTHUMT00000143354.1	C	NM_001005180	-		5758028	1	no_errors	ENST00000317121	ensembl	human	known	74_37	silent	SNP	0.988	T	T	5758028	C	T	5758028	2	4	196	1	0	0	0	0	0	0	0	1	11139	912	32	2		2	OR56B1	11	5758028	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	154957	5758028	129248488	1339	14611											
OR52N2	390077	genome.wustl.edu	37	chr11	5841994	5841994	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccttaccaaccctgtcatCgccaaggctggtcttgccac	7	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5841994C>T	ENST00000317037.2	+	1	451	c.429C>T	c.(427-429)atC>atT	p.I143I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTGTCATCGCCAAGGCTG	0.572																																																	0								ENSG00000180988						158	128	138					11																	5841994		2201	4296	6497	OR52N2	SO:0001819	synonymous_variant	0			-	HGNC	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.429C>T	11.37:g.5841994C>T		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	Q6IFF9	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I143	ENST00000317037.2	37	c.429	CCDS31399.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.572	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	protein_coding	OTTHUMT00000401143.1	C	NM_001005174	-		5841994	1	no_errors	ENST00000317037	ensembl	human	known	74_37	silent	SNP	0.001	T	T	5841994	C	T	5841994	2	4	196	1	0	0	0	0	0	0	0	1	11130	874	31	1		1	OR52N2	11	5841994	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	83966	5841994	129164522	1340	14612											
OR52N2	390077	genome.wustl.edu	37	chr11	5842312	5842312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatctcacatgtgttcCattgtgatcacctatgttgc	7	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5842312C>T	ENST00000317037.2	+	1	769	c.747C>T	c.(745-747)tcC>tcT	p.S249S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	249			S -> A (in dbSNP:rs8181529).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGTTCCATTGTGATCA	0.428																																																	0								ENSG00000180988						231	181	198					11																	5842312		2201	4296	6497	OR52N2	SO:0001819	synonymous_variant	0			-	HGNC	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.747C>T	11.37:g.5842312C>T		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	Q6IFF9	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S249	ENST00000317037.2	37	c.747	CCDS31399.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	protein_coding	OTTHUMT00000401143.1	C	NM_001005174	-		5842312	1	no_errors	ENST00000317037	ensembl	human	known	74_37	silent	SNP	0.001	T	T	5842312	C	T	5842312	2	4	196	1	0	0	0	0	0	0	0	1	11130	581	21	2		2	OR52N2	11	5842312	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	318	5842312	129164204	1341	14613											
OR52E4	390081	genome.wustl.edu	37	chr11	5905837	5905837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcttcagatgttcttTattcacatgtttacaggcat	6	9	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5905837T>C	ENST00000316987.2	+	1	337	c.315T>C	c.(313-315)ttT>ttC	p.F105F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTCTTTATTCACATGT	0.473																																																	0								ENSG00000180974						104	93	97					11																	5905837		2201	4296	6497	OR52E4	SO:0001819	synonymous_variant	0			-	HGNC	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.315T>C	11.37:g.5905837T>C		Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	41	46.75	Q6IFG0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F105	ENST00000316987.2	37	c.315	CCDS31401.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.473	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E4	protein_coding	OTTHUMT00000401146.1	T	NM_001005165	-		5905837	1	no_errors	ENST00000316987	ensembl	human	known	74_37	silent	SNP	0.041	C	C	5905837	T	C	5905837	2	2	196	1	0	0	0	0	0	0	0	1	11118	1751	61	5		5	OR52E4	11	5905837	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	63525	5905837	129100679	1342	14614											
OR56B4	196335	genome.wustl.edu	37	chr11	6129372	6129372	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatagagtcaggcatctttCtctgcatggcagtagacaga	11	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6129372C>T	ENST00000316529.3	+	1	459	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCTTTCTCTGCATGGC	0.483																																																	0								ENSG00000180919						142	130	134					11																	6129372		2201	4296	6497	OR56B4	SO:0001583	missense	0			-	HGNC	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.364C>T	11.37:g.6129372C>T	ENSP00000321196:p.Leu122Phe	Somatic	0	22	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q6IFD7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.L122F	ENST00000316529.3	37	c.364	CCDS31406.1	11	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279813	0.10458	.	.	ENSG00000180919	ENST00000316529	T	0.36340	1.26	4.06	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.269330	0.19395	U	0.115314	T	0.43875	0.1267	M	0.83774	2.66	0.09310	N	1	B	0.30664	0.289	B	0.40477	0.33	T	0.48422	-0.9037	10	0.72032	D	0.01	.	4.6796	0.12729	0.1516:0.6154:0.1473:0.0857	.	122	Q8NH76	O56B4_HUMAN	F	122	ENSP00000321196:L122F	ENSP00000321196:L122F	L	+	1	0	OR56B4	6085948	0.000000	0.05858	0.988000	0.46212	0.046000	0.14306	-0.402000	0.07223	0.403000	0.25479	-0.347000	0.07816	CTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.483	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	protein_coding	OTTHUMT00000384668.1	C	NM_001005181	-		6129372	1	no_errors	ENST00000316529	ensembl	human	known	74_37	missense	SNP	0.053	T	T	6129372	C	T	6129372	3	4	196	1	0	0	0	0	1	0	0	0	11140	913	32	2	366	2	OR56B4	11	6129372	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	223535	6129372	128877144	1343	14615											
CCKBR	887	genome.wustl.edu	37	chr11	6291073	6291073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgtggcttgcatgcCcttcaccctcctgcccaatc	9	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6291073C>T	ENST00000334619.2	+	2	519	c.326C>T	c.(325-327)cCc>cTc	p.P109L	CCKBR_ENST00000525014.1_Missense_Mutation_p.P109L|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.P109L	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	109					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTGCATGCCCTTCACCCTC	0.602																																																	0								ENSG00000110148						120	93	102					11																	6291073		2201	4296	6497	CCKBR	SO:0001583	missense	0			-	HGNC	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.326C>T	11.37:g.6291073C>T	ENSP00000335544:p.Pro109Leu	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P109L	ENST00000334619.2	37	c.326	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389850	0.82902	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.47177	0.85;0.85;0.85	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.90309	3.105	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	T	0.80867	-0.1190	10	0.87932	D	0	.	16.6268	0.84972	0.0:1.0:0.0:0.0	.	109;43;109	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	L	109	ENSP00000335544:P109L;ENSP00000437001:P109L;ENSP00000435534:P109L	ENSP00000335544:P109L	P	+	2	0	CCKBR	6247649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.508000	0.84585	0.557000	0.71058	CCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	protein_coding	OTTHUMT00000257230.2	C	NM_176875	-		6291073	1	no_errors	ENST00000525462	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6291073	C	T	6291073	3	4	196	1	0	0	0	0	1	0	0	0	2883	623	22	2	332	2	CCKBR	11	6291073	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	161701	6291073	128715443	1344	14616											
DNHD1	144132	genome.wustl.edu	37	chr11	6591239	6591239	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccgctccccttctctagGagtcaagtgactctaaccca	6	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6591239G>A	ENST00000527990.2	+	38	12864	c.12864G>A	c.(12862-12864)tgG>tgA	p.W4288*	DNHD1_ENST00000254579.6_Splice_Site_p.W4288*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4288					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTCTCTAGGAGTCAAGTGA	0.522																																																	0								ENSG00000179532						75	73	74					11																	6591239		1928	4143	6071	DNHD1	SO:0001630	splice_region_variant	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12864-1G>A	11.37:g.6591239G>A		Somatic	0	56	0		0.52429534266604	13	48	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.W4288*	ENST00000527990.2	37	c.12864	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	55	24.964477	0.99963	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.473	0.61292	0.0:0.0:1.0:0.0	.	.	.	.	X	4288;4288;556;556	.	.	W	+	3	0	DNHD1	6547815	1.000000	0.71417	0.994000	0.49952	0.511000	0.34104	4.520000	0.60524	2.557000	0.86248	0.655000	0.94253	TGG	-	pfam_Dynein_heavy_dom		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	G	NM_144666	-	Nonsense_Mutation	6591239	1	no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	SNP	0.999	A	A	6591239	G	A	6591239	5	1	196	1	0	0	0	0	0	0	1	0	4670	1188	41	2	13023	2	DNHD1	11	6591239	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	300166	6591239	128415277	1345	14617											
OR2AG1	144125	genome.wustl.edu	37	chr11	6807180	6807180	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcgggccttgaggagggtCctgggaaaatacatgctgcc	15	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6807180C>T	ENST00000307401.4	+	1	933	c.912C>T	c.(910-912)gtC>gtT	p.V304V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	304						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)		TGAGGAGGGTCCTGGGAAAAT	0.483																																																	0								ENSG00000170803						81	74	76					11																	6807180		2201	4296	6497	OR2AG1	SO:0001819	synonymous_variant	0			-	HGNC	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.912C>T	11.37:g.6807180C>T		Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	47	37.33	B9EKV7|Q6IFG7|Q96R26	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V304	ENST00000307401.4	37	c.912	CCDS31414.1	11																																																																																			-	NULL		0.483	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	protein_coding	OTTHUMT00000385980.1	C	NM_001004489	-		6807180	1	no_errors	ENST00000307401	ensembl	human	known	74_37	silent	SNP	0.006	T	T	6807180	C	T	6807180	2	4	196	1	0	0	0	0	0	0	0	1	10986	842	30	2		2	OR2AG1	11	6807180	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	215941	6807180	128199336	1346	14618											
OR10A5	144124	genome.wustl.edu	37	chr11	6867796	6867796	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccattatctacagcttgagaAatagcgaggtgaagaatgcc	10	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6867796A>T	ENST00000299454.4	+	1	914	c.883A>T	c.(883-885)Aat>Tat	p.N295Y	OR10A5_ENST00000379831.2_Missense_Mutation_p.N299Y			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	295					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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCTTGAGAAATAGCGAGGT	0.433																																					Pancreas(44;21 1072 25662 28041 45559)												0								ENSG00000166363						97	98	98					11																	6867796		2201	4296	6497	OR10A5	SO:0001583	missense	0			-	HGNC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.883A>T	11.37:g.6867796A>T	ENSP00000299454:p.Asn295Tyr	Somatic	0	59	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	43	35.82	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N299Y	ENST00000299454.4	37	c.895	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239981	0.39598	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.50001	0.76;0.76	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000006	T	0.67998	0.2953	M	0.85099	2.735	0.31018	N	0.71845	D	0.89917	1.0	D	0.70227	0.968	T	0.72374	-0.4313	10	0.87932	D	0	.	10.7772	0.46356	1.0:0.0:0.0:0.0	.	295	Q9H207	O10A5_HUMAN	Y	295;299	ENSP00000299454:N295Y;ENSP00000369159:N299Y	ENSP00000299454:N295Y	N	+	1	0	OR10A5	6824372	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	4.464000	0.60134	1.839000	0.53478	0.482000	0.46254	AAT	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	protein_coding	OTTHUMT00000385983.1	A	NM_178168	-		6867796	1	no_errors	ENST00000379831	ensembl	human	known	74_37	missense	SNP	0.998	T	T	6867796	A	T	6867796	3	4	196	1	0	0	0	0	1	0	0	0	10895	14	1	5	885	5	OR10A5	11	6867796	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	60616	6867796	128138720	1347	14619											
RPL27A	6157	genome.wustl.edu	37	chr11	8706304	8706304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttggtatgaagcattaCcacttaaagaggaaccagag	10	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:8706304C>T	ENST00000314138.6	+	4	586	c.183C>T	c.(181-183)taC>taT	p.Y61Y	RPL27A_ENST00000524496.1_Silent_p.Y4Y|RPL27A_ENST00000531978.1_Silent_p.Y61Y|RPL27A_ENST00000526562.1_Silent_p.Y4Y|RPL27A_ENST00000532359.1_Intron|SNORA3_ENST00000364113.1_RNA|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000530022.1_Silent_p.Y4Y|RPL27A_ENST00000530913.1_Silent_p.Y4Y	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	61					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)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGCATTACCACTTAAAGA	0.433																																																	0								ENSG00000166441						120	123	122					11																	8706304		2201	4296	6497	RPL27A	SO:0001819	synonymous_variant	0			-	HGNC	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.183C>T	11.37:g.8706304C>T		Somatic	0	100	0		0.52429534266604	6255	33.39	3143	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	88	38.62	B2R4B3	Silent	SNP							pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.Y61	ENST00000314138.6	37	c.183	CCDS7790.1	11																																																																																			-	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P		0.433	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL27A	protein_coding	OTTHUMT00000386506.1	C	NM_000990	-		8706304	1	no_errors	ENST00000314138	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8706304	C	T	8706304	2	4	196	1	0	0	0	0	0	0	0	1	13584	518	18	2		2	RPL27A	11	8706304	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1838508	8706304	126300212	1348	14620											
MRVI1	10335	genome.wustl.edu	37	chr11	10673657	10673657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatggcagcctcctgctggGagtggccacgtgtgcccgga	16	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:10673657G>A	ENST00000436272.1	-	1	191	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.S47F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S38F|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.S47F|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S38F|MRVI1_ENST00000552103.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	38					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCCTGCTGGGAGTGGCCACG	0.667																																																	0								ENSG00000072952						17	23	21					11																	10673657		2017	4178	6195	MRVI1	SO:0001583	missense	0			-	HGNC	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.113C>T	11.37:g.10673657G>A	ENSP00000412229:p.Ser38Phe	Somatic	0	58	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.71	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP							pfam_MRVI1	p.S38F	ENST00000436272.1	37	c.113		11	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785160	0.70222	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107	T;T;T;T;T	0.22945	2.64;2.62;2.45;1.93;2.64	5.26	3.39	0.38822	.	0.324208	0.22564	N	0.058432	T	0.33030	0.0849	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.995;0.997	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.07908	-1.0748	10	0.87932	D	0	-4.2872	7.4848	0.27425	0.191:0.0:0.809:0.0	.	47;38;38;38	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	F	38;38;38;47;47;38	ENSP00000414598:S38F;ENSP00000412229:S38F;ENSP00000412130:S47F;ENSP00000437784:S47F;ENSP00000432436:S38F	ENSP00000307885:S38F	S	-	2	0	MRVI1	10630233	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	2.239000	0.43079	0.789000	0.33779	0.655000	0.94253	TCC	-	NULL		0.667	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	protein_coding		G	NM_001098579	-		10673657	-1	no_errors	ENST00000421747	ensembl	human	known	74_37	missense	SNP	0.992	A	A	10673657	G	A	10673657	3	1	196	1	0	0	0	0	1	0	0	0	9855	1174	41	2	2678	2	MRVI1	11	10673657	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1967353	10673657	124332859	1349	14621											
CALCB	797	genome.wustl.edu	37	chr11	15098911	15098911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctgagcagatcagggGgcatggtgaagagcaacttc	15	8	1	4	rs534656970		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:15098911G>A	ENST00000533448.1	+	4	415	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	CALCB_ENST00000324229.6_Missense_Mutation_p.G102S|CALCB_ENST00000523376.1_Missense_Mutation_p.G113S			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	102					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CAGATCAGGGGGCATGGTGAA	0.567													G|||	1	0.000199681	8e-04	0	5008	,	,		15277	0		0	False		,,,				2504	0																0								ENSG00000175868						58	55	56					11																	15098911		2200	4294	6494	CALCB	SO:0001583	missense	0			-	HGNC		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.304G>A	11.37:g.15098911G>A	ENSP00000433490:p.Gly102Ser	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP							pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.G102S	ENST00000533448.1	37	c.304	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803497	0.70682	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.21361	2.01;2.01;2.01	4.87	4.87	0.63330	Calcitonin peptide-like (1);	0.406589	0.21276	N	0.077222	T	0.26629	0.0651	N	0.14661	0.345	0.41894	D	0.990389	D	0.76494	0.999	D	0.68192	0.956	T	0.03597	-1.1021	10	0.07813	T	0.8	-2.6524	18.3705	0.90405	0.0:0.0:1.0:0.0	.	102	P10092	CALCB_HUMAN	S	113;102;102	ENSP00000428882:G113S;ENSP00000346017:G102S;ENSP00000433490:G102S	ENSP00000346017:G102S	G	+	1	0	CALCB	15055487	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	9.406000	0.97321	2.390000	0.81377	0.462000	0.41574	GGC	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep		0.567	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	protein_coding	OTTHUMT00000387433.1	G	NM_000728	-		15098911	1	no_errors	ENST00000324229	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15098911	G	A	15098911	3	1	196	1	0	0	0	0	1	0	0	0	2578	1232	43	2	314	2	CALCB	11	15098911	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4425254	15098911	119907605	1350	14622											
CALCB	797	genome.wustl.edu	37	chr11	15098931	15098931	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatggtgaagagcaacttCgtgcccaccaatgtgggttc	13	10	0	2	rs145827382	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:15098931C>T	ENST00000533448.1	+	4	435	c.324C>T	c.(322-324)ttC>ttT	p.F108F	CALCB_ENST00000324229.6_Silent_p.F108F|CALCB_ENST00000523376.1_Silent_p.F119F			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	108					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.F108F(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						AGAGCAACTTCGTGCCCACCA	0.577																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000175868	C		4,4396	8.1+/-20.4	0,4,2196	61	57	59		324	-5.2	0.9	11	dbSNP_134	59	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	CALCB	NM_000728.3		0,5,6489	TT,TC,CC		0.0116,0.0909,0.0385		108/128	15098931	5,12983	2200	4294	6494	CALCB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.324C>T	11.37:g.15098931C>T		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	38	35.59	A8K573|D3DQX4|Q569I0|Q9UCN9	Silent	SNP							pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.F108	ENST00000533448.1	37	c.324	CCDS7820.1	11																																																																																			-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep		0.577	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	protein_coding	OTTHUMT00000387433.1	C	NM_000728	rs145827382		15098931	1	no_errors	ENST00000324229	ensembl	human	known	74_37	silent	SNP	0.903	T	T	15098931	C	T	15098931	2	4	196	1	0	0	0	0	0	0	0	1	2578	883	31	1		1	CALCB	11	15098931	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	20	15098931	119907585	1351	14623											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16876516	16876516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctcttcccaaagctgtGgactttactgctggacttta	8	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:16876516G>A	ENST00000355661.3	-	6	452	c.442C>T	c.(442-444)Cac>Tac	p.H148Y	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.H148Y|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.H148Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	148					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCAAAGCTGTGGACTTTACTG	0.493																																																	0								ENSG00000166689						115	106	109					11																	16876516		2200	4294	6494	PLEKHA7	SO:0001583	missense	0			-	HGNC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.442C>T	11.37:g.16876516G>A	ENSP00000347883:p.His148Tyr	Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	75	15.73	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.H148Y	ENST00000355661.3	37	c.442	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.146377	0.94603	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.63046	0.992;0.988	P;D	0.65684	0.88;0.937	T	0.00837	-1.1546	10	0.62326	D	0.03	-33.6042	18.8421	0.92188	0.0:0.0:1.0:0.0	.	148;148	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	Y	148;148;148;42	ENSP00000435389:H148Y;ENSP00000347883:H148Y;ENSP00000416895:H148Y;ENSP00000435806:H42Y	ENSP00000347883:H148Y	H	-	1	0	PLEKHA7	16833092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.011000	0.93618	2.744000	0.94065	0.655000	0.94253	CAC	-	NULL		0.493	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	protein_coding	OTTHUMT00000387242.2	G	NM_175058	-		16876516	-1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16876516	G	A	16876516	3	1	196	1	0	0	0	0	1	0	0	0	12063	1348	47	2	2995	2	PLEKHA7	11	16876516	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1777585	16876516	118130000	1352	14624											
ABCC8	6833	genome.wustl.edu	37	chr11	17483346	17483346	+	Silent	SNP	C	C	T													tcctcgggaggcttcacctcCctcggtgtcttgaagaagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17483346C>T	ENST00000389817.3	-	5	674	c.606G>A	c.(604-606)agG>agA	p.R202R	ABCC8_ENST00000302539.4_Silent_p.R202R			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	202					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCTTCACCTCCCTCGGTGTCT	0.577																																																	0								ENSG00000006071						77	71	73					11																	17483346		2200	4293	6493	ABCC8	SO:0001819	synonymous_variant	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.606G>A	11.37:g.17483346C>T		Somatic	0	71	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	59	39.80	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R202	ENST00000389817.3	37	c.606	CCDS31437.1	11																																																																																			-	NULL		0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	C	NM_000352	-		17483346	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	SNP	0.028	T	T	17483346	C	T	17483346	2	4	196	1	0	0	0	0	0	0	0	1	58	622	22	2		2	ABCC8	11	17483346	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	606830	17483346	117523170	1353	14625	301	2									
ABCC8	6833	genome.wustl.edu	37	chr11	17483347	17483347	+	Missense_Mutation	SNP	C	C	T													cctcgggaggcttcacctccCtcggtgtcttgaagaagatg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17483347C>T	ENST00000389817.3	-	5	673	c.605G>A	c.(604-606)aGg>aAg	p.R202K	ABCC8_ENST00000302539.4_Missense_Mutation_p.R202K			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	202					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTTCACCTCCCTCGGTGTCTT	0.582																																																	0								ENSG00000006071						75	69	71					11																	17483347		2200	4293	6493	ABCC8	SO:0001583	missense	0			-	HGNC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.605G>A	11.37:g.17483347C>T	ENSP00000374467:p.Arg202Lys	Somatic	0	71	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	60	38.78	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R202K	ENST00000389817.3	37	c.605	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.664587	0.00765	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90620	-2.7;-2.7	5.49	2.13	0.27403	.	0.212764	0.38959	N	0.001507	T	0.68449	0.3002	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.58842	-0.7565	10	0.09084	T	0.74	.	5.3372	0.15965	0.0:0.4614:0.0:0.5386	.	202;202	B7Z4N0;Q09428	.;ABCC8_HUMAN	K	202;202;216	ENSP00000374467:R202K;ENSP00000303960:R202K	ENSP00000303960:R202K	R	-	2	0	ABCC8	17439923	0.999000	0.42202	0.457000	0.27056	0.084000	0.17831	3.014000	0.49590	0.799000	0.34018	-0.157000	0.13467	AGG	-	NULL		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	protein_coding	OTTHUMT00000389093.1	C	NM_000352	-		17483347	-1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	SNP	0.018	T	T	17483347	C	T	17483347	3	4	196	1	0	0	0	0	1	0	0	0	58	681	24	2	4280	2	ABCC8	11	17483347	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	17483347	117523169	1354	14626	301	2									
USH1C	10083	genome.wustl.edu	37	chr11	17544370	17544370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcctggaggatcttgttgGactccatcgccagccgcttc	11	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17544370G>A	ENST00000318024.4	-	12	1088	c.980C>T	c.(979-981)tCc>tTc	p.S327F	USH1C_ENST00000527720.1_Missense_Mutation_p.S296F|USH1C_ENST00000527020.1_Missense_Mutation_p.S308F|USH1C_ENST00000005226.7_Missense_Mutation_p.S327F	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	327					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GATCTTGTTGGACTCCATCGC	0.667																																																	0								ENSG00000006611						27	31	30					11																	17544370		2200	4292	6492	USH1C	SO:0001583	missense	0			-	HGNC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.980C>T	11.37:g.17544370G>A	ENSP00000317018:p.Ser327Phe	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S327F	ENST00000318024.4	37	c.980	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135149	0.56828	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.39997	1.72;1.71;1.95;1.05	5.04	4.13	0.48395	.	0.302185	0.35646	N	0.003072	T	0.38852	0.1056	N	0.14661	0.345	0.39148	D	0.962172	D;P;D	0.63880	0.958;0.855;0.993	P;B;P	0.54706	0.563;0.36;0.759	T	0.46693	-0.9173	10	0.87932	D	0	.	12.2594	0.54642	0.0:0.0:0.8295:0.1705	.	308;327;327	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	F	327;296;308;327	ENSP00000317018:S327F;ENSP00000432944:S296F;ENSP00000436934:S308F;ENSP00000005226:S327F	ENSP00000005226:S327F	S	-	2	0	USH1C	17500946	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	6.655000	0.74392	1.139000	0.42245	-0.372000	0.07161	TCC	-	NULL		0.667	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	protein_coding	OTTHUMT00000389146.1	G	NM_005709	-		17544370	-1	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17544370	G	A	17544370	3	1	196	1	0	0	0	0	1	0	0	0	17041	1174	41	2	1861	2	USH1C	11	17544370	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	61023	17544370	117462146	1355	14627											
NAV2	89797	genome.wustl.edu	37	chr11	20065565	20065565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaggtggagaggaattcCctgtggtctggtgatgatgt	15	6	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:20065565C>T	ENST00000396087.3	+	14	3114	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S	NAV2_ENST00000349880.4_Silent_p.S982S|NAV2_ENST00000396085.1_Silent_p.S982S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.S934S|NAV2_ENST00000540292.1_Silent_p.S936S|NAV2_ENST00000311043.8_Silent_p.S68S|NAV2_ENST00000533917.1_Silent_p.S68S|NAV2_ENST00000360655.4_Silent_p.S918S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1005					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						AGAGGAATTCCCTGTGGTCTG	0.532																																																	0								ENSG00000166833						95	97	96					11																	20065565		2203	4300	6503	NAV2	SO:0001819	synonymous_variant	0			-	HGNC	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.3015C>T	11.37:g.20065565C>T		Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	59	39.80	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1005	ENST00000396087.3	37	c.3015	CCDS58126.1	11																																																																																			-	NULL		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	C	NM_145117	-		20065565	1	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	SNP	0.996	T	T	20065565	C	T	20065565	2	4	196	1	0	0	0	0	0	0	0	1	10186	610	22	2		2	NAV2	11	20065565	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2521195	20065565	114940951	1356	14628											
PRMT3	10196	genome.wustl.edu	37	chr11	20414467	20414467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagttgagtacatgaatTccatatacaacccagtgcct	6	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:20414467T>G	ENST00000331079.6	+	5	539	c.322T>G	c.(322-324)Tcc>Gcc	p.S108A	PRMT3_ENST00000437750.2_Missense_Mutation_p.S46A	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	108					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTACATGAATTCCATATACAA	0.313																																																	0								ENSG00000185238						160	164	163					11																	20414467		2203	4300	6503	PRMT3	SO:0001583	missense	0			-	HGNC	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.322T>G	11.37:g.20414467T>G	ENSP00000331879:p.Ser108Ala	Somatic	0	74	0		0.52429534266604	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	64	22.89	B4DUC7	Missense_Mutation	SNP							pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.S108A	ENST00000331079.6	37	c.322	CCDS7853.1	11	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707248	0.48412	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.41758	0.99;0.99	5.7	5.7	0.88788	.	0.415388	0.30269	N	0.010007	T	0.41511	0.1162	L	0.48986	1.54	0.37295	D	0.908447	P;B	0.44044	0.825;0.0	P;B	0.46026	0.501;0.006	T	0.41556	-0.9502	10	0.24483	T	0.36	-13.1321	10.3112	0.43710	0.0:0.0744:0.0:0.9256	.	46;108	O60678-2;O60678	.;ANM3_HUMAN	A	108;108;46	ENSP00000331879:S108A;ENSP00000397766:S46A	ENSP00000331879:S108A	S	+	1	0	PRMT3	20371043	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.912000	0.48782	2.287000	0.76781	0.533000	0.62120	TCC	-	NULL		0.313	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	protein_coding	OTTHUMT00000387489.1	T	NM_005788	-		20414467	1	no_errors	ENST00000331079	ensembl	human	known	74_37	missense	SNP	1.000	G	G	20414467	T	G	20414467	3	3	196	1	0	0	0	0	1	0	0	0	12543	1783	62	5	340	5	PRMT3	11	20414467	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	348902	20414467	114592049	1357	14629											
SLC17A6	57084	genome.wustl.edu	37	chr11	22384297	22384297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttaggttcctatgccgGagctgtgattgcaatgcctt	10	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:22384297G>A	ENST00000263160.3	+	6	1111	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	225					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G225K(1)|p.G225E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCCTATGCCGGAGCTGTGATT	0.398																																																	2	Substitution - Missense(2)	lung(1)|skin(1)						ENSG00000091664						234	197	210					11																	22384297		2203	4300	6503	SLC17A6	SO:0001583	missense	0			-	HGNC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.674G>A	11.37:g.22384297G>A	ENSP00000263160:p.Gly225Glu	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	A6NKS2	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G225E	ENST00000263160.3	37	c.674	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424388	0.83667	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.77877	-1.13	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95459	0.8541	10	0.87932	D	0	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	225	Q9P2U8	VGLU2_HUMAN	E	225;113	ENSP00000263160:G225E	ENSP00000263160:G225E	G	+	2	0	SLC17A6	22340873	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.813000	0.99286	2.765000	0.95021	0.650000	0.86243	GGA	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	protein_coding	OTTHUMT00000387671.1	G	NM_020346	-		22384297	1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22384297	G	A	22384297	3	1	196	1	0	0	0	0	1	0	0	0	14429	1174	41	2	696	2	SLC17A6	11	22384297	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1969830	22384297	112622219	1358	14630											
SLC17A6	57084	genome.wustl.edu	37	chr11	22391619	22391619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggaggaagttttttacatCcatgccagtctatgcaataa	8	7	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:22391619C>T	ENST00000263160.3	+	8	1363	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	309					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTTTTACATCCATGCCAGTC	0.333																																																	0								ENSG00000091664						71	69	69					11																	22391619		2202	4297	6499	SLC17A6	SO:0001583	missense	0			-	HGNC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.926C>T	11.37:g.22391619C>T	ENSP00000263160:p.Ser309Phe	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	69	20.69	A6NKS2	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S309F	ENST00000263160.3	37	c.926	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288351	0.80803	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.60672	0.17	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102586	0.64402	D	0.000001	D	0.83894	0.5353	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88745	0.3246	10	0.87932	D	0	.	12.8669	0.57944	0.0:0.9249:0.0:0.0751	.	309	Q9P2U8	VGLU2_HUMAN	F	309;197	ENSP00000263160:S309F	ENSP00000263160:S309F	S	+	2	0	SLC17A6	22348195	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.702000	0.92279	0.591000	0.81541	TCC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.333	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	protein_coding	OTTHUMT00000387671.1	C	NM_020346	-		22391619	1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22391619	C	T	22391619	3	4	196	1	0	0	0	0	1	0	0	0	14429	855	30	2	956	2	SLC17A6	11	22391619	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7322	22391619	112614897	1359	14631											
KCNA4	3739	genome.wustl.edu	37	chr11	30034050	30034050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtgggagcccCcaccagaacccccgctacct	14	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:30034050C>T	ENST00000328224.6	-	2	1409	c.176G>A	c.(175-177)gGg>gAg	p.G59E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	59					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)	GTGGGAGCCCCCACCAGAACC	0.687																																																	0								ENSG00000182255						32	35	34					11																	30034050		1893	4106	5999	KCNA4	SO:0001583	missense	0			-	HGNC	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.176G>A	11.37:g.30034050C>T	ENSP00000328511:p.Gly59Glu	Somatic	0	23	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G59E	ENST00000328224.6	37	c.176	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895703	0.52121	.	.	ENSG00000182255	ENST00000328224	D	0.96913	-4.17	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	35.234800	0.00166	N	0.000007	D	0.93259	0.7852	N	0.14661	0.345	0.58432	D	0.99999	B	0.26672	0.156	B	0.24394	0.053	T	0.73307	-0.4024	10	0.62326	D	0.03	.	13.6829	0.62496	0.0:0.8454:0.1546:0.0	.	59	P22459	KCNA4_HUMAN	E	59	ENSP00000328511:G59E	ENSP00000328511:G59E	G	-	2	0	KCNA4	29990626	1.000000	0.71417	0.971000	0.41717	0.578000	0.36192	5.186000	0.65082	2.239000	0.73571	0.561000	0.74099	GGG	-	pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4		0.687	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	protein_coding	OTTHUMT00000388074.2	C	NM_002233	-		30034050	-1	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30034050	C	T	30034050	3	4	196	1	0	0	0	0	1	0	0	0	8007	623	22	2	1789	2	KCNA4	11	30034050	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7642431	30034050	104972466	1360	14632											
HIPK3	10114	genome.wustl.edu	37	chr11	33370745	33370745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcactttgaatattgatCggatgtgttcattaagtagt	10	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:33370745C>T	ENST00000303296.4	+	14	3024	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	HIPK3_ENST00000525975.1_Missense_Mutation_p.R886W|HIPK3_ENST00000379016.3_Missense_Mutation_p.R886W|HIPK3_ENST00000456517.1_Missense_Mutation_p.R886W	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	907	Interaction with AR. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAATATTGATCGGATGTGTTC	0.428																																																	0								ENSG00000110422						140	131	134					11																	33370745		2202	4298	6500	HIPK3	SO:0001583	missense	0			-	HGNC	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2719C>T	11.37:g.33370745C>T	ENSP00000304226:p.Arg907Trp	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R907W	ENST00000303296.4	37	c.2719	CCDS7884.1	11	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890079	0.72524	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.58358	0.34;0.36;0.34;0.34	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000025	T	0.67011	0.2848	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67401	-0.5680	10	0.87932	D	0	.	18.6239	0.91331	0.0:1.0:0.0:0.0	.	886;907	Q9H422-2;Q9H422	.;HIPK3_HUMAN	W	886;907;886;886	ENSP00000431710:R886W;ENSP00000304226:R907W;ENSP00000368301:R886W;ENSP00000398241:R886W	ENSP00000304226:R907W	R	+	1	2	HIPK3	33327321	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.178000	0.58284	2.838000	0.97847	0.655000	0.94253	CGG	-	NULL		0.428	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	protein_coding	OTTHUMT00000255358.1	C	NM_005734	-		33370745	1	no_errors	ENST00000303296	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33370745	C	T	33370745	3	4	196	1	0	0	0	0	1	0	0	0	7120	875	31	1	2769	1	HIPK3	11	33370745	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3336695	33370745	101635771	1361	14633											
COMMD9	29099	genome.wustl.edu	37	chr11	36310951	36310951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgcaaaatgctccgctgtCagggcagccatcttgccgaa	11	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:36310951C>T	ENST00000263401.5	-	1	28	c.12G>A	c.(10-12)ctG>ctA	p.L4L	COMMD9_ENST00000452374.2_Silent_p.L4L|COMMD9_ENST00000532705.1_Silent_p.L4L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	4										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTCCGCTGTCAGGGCAGCCA	0.627																																																	0								ENSG00000110442						39	26	30					11																	36310951		2132	4125	6257	COMMD9	SO:0001819	synonymous_variant	0			-	HGNC	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.12G>A	11.37:g.36310951C>T		Somatic	0	42	0		0.52429534266604	66	13.16	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.00	E9PAN2|Q96FI2|Q9H0R0	Silent	SNP							pfam_HCaRG	p.L4	ENST00000263401.5	37	c.12	CCDS7900.1	11																																																																																			-	NULL		0.627	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	protein_coding	OTTHUMT00000389196.1	C	NM_014186	-		36310951	-1	no_errors	ENST00000263401	ensembl	human	known	74_37	silent	SNP	0.127	T	T	36310951	C	T	36310951	2	4	196	1	0	0	0	0	0	0	0	1	3725	813	29	2		2	COMMD9	11	36310951	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2940206	36310951	98695565	1362	14634											
TRAF6	7189	genome.wustl.edu	37	chr11	36511549	36511549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagttacatagccaaaacCttttgggttccgtgggattg	10	7	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:36511549C>A	ENST00000526995.1	-	7	1654	c.1408G>T	c.(1408-1410)Ggt>Tgt	p.G470C	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.G470C	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	470	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TAGCCAAAACCTTTTGGGTTC	0.463																																																	0								ENSG00000175104						87	86	87					11																	36511549		2201	4279	6480	TRAF6	SO:0001583	missense	0			-	HGNC		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1408G>T	11.37:g.36511549C>A	ENSP00000433623:p.Gly470Cys	Somatic	0	129	0		0.52429534266604	11	15.38	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	121	22.78	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP							pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.G470C	ENST00000526995.1	37	c.1408	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513990	0.85389	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80867	-0.1190	10	0.87932	D	0	-22.3866	19.6799	0.95958	0.0:1.0:0.0:0.0	.	470	Q9Y4K3	TRAF6_HUMAN	C	470	ENSP00000433623:G470C;ENSP00000337853:G470C	ENSP00000337853:G470C	G	-	1	0	TRAF6	36468125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.739000	0.93911	0.555000	0.69702	GGT	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.463	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	protein_coding	OTTHUMT00000389530.1	C	NM_145803	-		36511549	-1	no_errors	ENST00000348124	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36511549	C	A	36511549	3	1	196	1	0	0	0	0	1	0	0	0	16452	681	24	3	164	3	TRAF6	11	36511549	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	200598	36511549	98494967	1363	14635											
LRRC4C	57689	genome.wustl.edu	37	chr11	40136827	40136827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgagctctccaatgtacCtcccctttagattgggagga	11	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:40136827C>T	ENST00000278198.2	-	2	2979	c.1016G>A	c.(1015-1017)aGg>aAg	p.R339K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R339K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	339	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAATGTACCTCCCCTTTAG	0.527																																																	0								ENSG00000148948						80	68	72					11																	40136827		2203	4300	6503	LRRC4C	SO:0001583	missense	0			-	HGNC	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1016G>A	11.37:g.40136827C>T	ENSP00000278198:p.Arg339Lys	Somatic	0	27	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	A8K0T1|Q7L0N3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R339K	ENST00000278198.2	37	c.1016	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	C	8.798	0.932190	0.18131	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.055394	0.64402	D	0.000001	T	0.41743	0.1172	L	0.33710	1.025	0.41583	D	0.988753	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	10	0.20519	T	0.43	.	14.5562	0.68101	0.0:0.8541:0.1459:0.0	.	339	Q9HCJ2	LRC4C_HUMAN	K	339	ENSP00000278198:R339K;ENSP00000436976:R339K;ENSP00000437132:R339K;ENSP00000434761:R339K	ENSP00000278198:R339K	R	-	2	0	LRRC4C	40093403	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.691000	0.61738	2.732000	0.93576	0.655000	0.94253	AGG	-	NULL		0.527	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	protein_coding	OTTHUMT00000389499.1	C	NM_020929	-		40136827	-1	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40136827	C	T	40136827	3	4	196	1	0	0	0	0	1	0	0	0	9010	681	24	2	910	2	LRRC4C	11	40136827	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3625278	40136827	94869689	1364	14636											
API5	8539	genome.wustl.edu	37	chr11	43342406	43342406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaagaactgcctcaattTgccactggagaaaatcttcc	6	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:43342406T>C	ENST00000531273.1	+	3	406	c.267T>C	c.(265-267)ttT>ttC	p.F89F	API5_ENST00000534600.1_Silent_p.F89F|API5_ENST00000420461.2_Silent_p.F35F|API5_ENST00000378852.3_Silent_p.F89F|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.F78F			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	89	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGCCTCAATTTGCCACTGGAG	0.333																																					Pancreas(1;98 122 5625 20895 49453)												0								ENSG00000166181						92	97	95					11																	43342406		2203	4300	6503	API5	SO:0001819	synonymous_variant	0			-	HGNC	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.267T>C	11.37:g.43342406T>C		Somatic	0	119	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	121	28.82	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP							pfam_API5,superfamily_ARM-type_fold	p.F89	ENST00000531273.1	37	c.267	CCDS44572.1	11																																																																																			-	pfam_API5,superfamily_ARM-type_fold		0.333	API5-002	KNOWN	basic|CCDS	protein_coding	API5	protein_coding	OTTHUMT00000389545.1	T	NM_006595	-		43342406	1	no_errors	ENST00000531273	ensembl	human	known	74_37	silent	SNP	1.000	C	C	43342406	T	C	43342406	2	2	196	1	0	0	0	0	0	0	0	1	773	1809	63	5		5	API5	11	43342406	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3205579	43342406	91664110	1365	14637											
ACCSL	390110	genome.wustl.edu	37	chr11	44074618	44074618	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgaagctaggcttgaGgtaaggtgggaaccatattt	13	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:44074618G>A	ENST00000378832.1	+	7	1004	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	316					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTAGGCTTGAGGTAAGGTGGG	0.473																																																	0								ENSG00000205126						83	81	82					11																	44074618		1908	4142	6050	ACCSL	SO:0001630	splice_region_variant	0			-	HGNC		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.948+1G>A	11.37:g.44074618G>A		Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00		Silent	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.E316	ENST00000378832.1	37	c.948	CCDS41636.1	11																																																																																			-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.473	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	protein_coding	OTTHUMT00000389717.1	G	NM_001031854	-	Silent	44074618	1	no_errors	ENST00000378832	ensembl	human	known	74_37	silent	SNP	0.952	A	A	44074618	G	A	44074618	5	1	196	1	0	0	0	0	0	0	1	0	134	1014	35	2	974	2	ACCSL	11	44074618	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	732212	44074618	90931898	1366	14638											
KIAA0652	9776	genome.wustl.edu	37	chr11	46689388	46689388	+	Missense_Mutation	SNP	C	C	T													ccctcacgatgtcttggagaCcatctttgtccgaaaagtgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46689388C>T	ENST00000434074.1	+	13	1792	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	ATG13_ENST00000451945.1_Missense_Mutation_p.T331I|ATG13_ENST00000528494.1_Missense_Mutation_p.T401I|ATG13_ENST00000359513.4_Missense_Mutation_p.T368I|ATG13_ENST00000529655.1_Missense_Mutation_p.T331I|ATG13_ENST00000530500.1_Missense_Mutation_p.T252I|ATG13_ENST00000526508.1_Missense_Mutation_p.T368I|ATG13_ENST00000312040.4_Missense_Mutation_p.T368I|ATG13_ENST00000524625.1_Missense_Mutation_p.T331I	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	368					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GTCTTGGAGACCATCTTTGTC	0.478																																																	0								ENSG00000175224						98	84	89					11																	46689388		2201	4299	6500	ATG13	SO:0001583	missense	0			-	HGNC	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1103C>T	11.37:g.46689388C>T	ENSP00000400642:p.Thr368Ile	Somatic	0	79	0		0.52429534266604	52	11.86	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	60	40.59	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP							pfam_Autophagy-rel_p13	p.T368I	ENST00000434074.1	37	c.1103	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503928	0.85176	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	6.07	6.07	0.98685	.	0.364704	0.34802	N	0.003661	T	0.43743	0.1261	N	0.19112	0.55	0.37513	D	0.917215	B;B;B;B	0.25235	0.059;0.121;0.072;0.012	B;B;B;B	0.19946	0.008;0.018;0.018;0.027	T	0.46289	-0.9202	9	0.56958	D	0.05	-15.6759	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	252;368;401;331	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	I	331;368;368;331;331;252;368;331;368;401;100	.	ENSP00000310321:T368I	T	+	2	0	ATG13	46645964	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.610000	0.61155	2.884000	0.98904	0.655000	0.94253	ACC	-	NULL		0.478	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	protein_coding	OTTHUMT00000390300.2	C	NM_014741	-		46689388	1	no_errors	ENST00000312040	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46689388	C	T	46689388	3	4	196	1	0	0	0	0	1	0	0	0	8190	507	18	2	1149	2	KIAA0652	11	46689388	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2614770	46689388	88317128	1367	14639	302	2									
KIAA0652	9776	genome.wustl.edu	37	chr11	46689389	46689389	+	Silent	SNP	C	C	T													cctcacgatgtcttggagacCatctttgtccgaaaagtggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46689389C>T	ENST00000434074.1	+	13	1793	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	ATG13_ENST00000451945.1_Silent_p.T331T|ATG13_ENST00000528494.1_Silent_p.T401T|ATG13_ENST00000359513.4_Silent_p.T368T|ATG13_ENST00000529655.1_Silent_p.T331T|ATG13_ENST00000530500.1_Silent_p.T252T|ATG13_ENST00000526508.1_Silent_p.T368T|ATG13_ENST00000312040.4_Silent_p.T368T|ATG13_ENST00000524625.1_Silent_p.T331T	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	368					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCTTGGAGACCATCTTTGTCC	0.483																																																	0								ENSG00000175224						97	83	88					11																	46689389		2201	4299	6500	ATG13	SO:0001819	synonymous_variant	0			-	HGNC	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1104C>T	11.37:g.46689389C>T		Somatic	0	80	0		0.52429534266604	53	13.11	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	62	39.81	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP							pfam_Autophagy-rel_p13	p.T368	ENST00000434074.1	37	c.1104	CCDS44582.1	11																																																																																			-	NULL		0.483	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	protein_coding	OTTHUMT00000390300.2	C	NM_014741	-		46689389	1	no_errors	ENST00000312040	ensembl	human	known	74_37	silent	SNP	0.992	T	T	46689389	C	T	46689389	2	4	196	1	0	0	0	0	0	0	0	1	8190	581	21	2		2	KIAA0652	11	46689389	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	46689389	88317127	1368	14640	302	2									
LRP4	4038	genome.wustl.edu	37	chr11	46900749	46900749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctgcagagtctcccggtCcagccctgtcagccggtcag	11	17	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46900749C>T	ENST00000378623.1	-	21	3174	c.2932G>A	c.(2932-2934)Gac>Aac	p.D978N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	978					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)			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)		GTCTCCCGGTCCAGCCCTGTC	0.607																																																	0								ENSG00000134569						87	96	93					11																	46900749		2201	4299	6500	LRP4	SO:0001583	missense	0			-	HGNC	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.2932G>A	11.37:g.46900749C>T	ENSP00000367888:p.Asp978Asn	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	57	32.14	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP							pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D978N	ENST00000378623.1	37	c.2932	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	9.266	1.044427	0.19748	.	.	ENSG00000134569	ENST00000378623	D	0.95885	-3.84	5.61	4.7	0.59300	Six-bladed beta-propeller, TolB-like (1);	0.120673	0.56097	D	0.000025	D	0.85720	0.5762	N	0.04275	-0.24	0.33917	D	0.640359	B	0.09022	0.002	B	0.17979	0.02	T	0.80183	-0.1488	10	0.02654	T	1	.	11.262	0.49089	0.1268:0.806:0.0:0.0672	.	978	O75096	LRP4_HUMAN	N	978	ENSP00000367888:D978N	ENSP00000367888:D978N	D	-	1	0	LRP4	46857325	1.000000	0.71417	0.913000	0.36048	0.852000	0.48524	2.635000	0.46537	1.509000	0.48786	0.462000	0.41574	GAC	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	protein_coding	OTTHUMT00000391133.1	C	NM_002334	-		46900749	-1	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	SNP	0.895	T	T	46900749	C	T	46900749	3	4	196	1	0	0	0	0	1	0	0	0	8961	855	30	2	2857	2	LRP4	11	46900749	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	211360	46900749	88105767	1369	14641											
MYBPC3	4607	genome.wustl.edu	37	chr11	47353736	47353736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatctccagagtcaacactCcctgcttgctgaacatgcgg	8	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:47353736C>T	ENST00000545968.1	-	33	3755	c.3701G>A	c.(3700-3702)gGa>gAa	p.G1234E	MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1233E|MYBPC3_ENST00000399249.2_Missense_Mutation_p.G1234E	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1234	Ig-like C2-type 7.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGTCAACACTCCCTGCTTGCT	0.562																																																	0								ENSG00000134571						82	85	84					11																	47353736		1965	4154	6119	MYBPC3	SO:0001583	missense	0			-	HGNC	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3701G>A	11.37:g.47353736C>T	ENSP00000442795:p.Gly1234Glu	Somatic	0	47	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	50	30.56	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1234E	ENST00000545968.1	37	c.3701	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.112501	0.94339	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.66995	-0.24;-0.24;-0.24	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82568	0.5065	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83731	0.0198	9	0.56958	D	0.05	.	18.0769	0.89430	0.0:1.0:0.0:0.0	.	1233	Q14896	MYPC3_HUMAN	E	1234;1234;1233	ENSP00000442795:G1234E;ENSP00000382193:G1234E;ENSP00000256993:G1233E	ENSP00000256993:G1233E	G	-	2	0	MYBPC3	47310312	0.993000	0.37304	0.955000	0.39395	0.974000	0.67602	5.745000	0.68672	2.556000	0.86216	0.561000	0.74099	GGA	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.562	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	protein_coding	OTTHUMT00000392271.3	C		-		47353736	-1	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47353736	C	T	47353736	3	4	196	1	0	0	0	0	1	0	0	0	10015	855	30	2	131	2	MYBPC3	11	47353736	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	452987	47353736	87652780	1370	14642											
MYBPC3	4607	genome.wustl.edu	37	chr11	47360232	47360232	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtctcacacagcagcTgggggggtgcagagttgggg	18	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:47360232T>C	ENST00000545968.1	-	23	2203		c.e23-2		MYBPC3_ENST00000256993.4_Splice_Site|MYBPC3_ENST00000399249.2_Splice_Site	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACACAGCAGCTGGGGGGGTGC	0.652																																																	0			GRCh37	CD033997	MYBPC3	D		ENSG00000134571						24	26	25					11																	47360232		2026	4167	6193	MYBPC3	SO:0001630	splice_region_variant	0			-	HGNC	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2149-2A>G	11.37:g.47360232T>C		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Splice_Site	SNP							-	e22-2	ENST00000545968.1	37	c.2149-2	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723873	0.68959	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4578	0.75330	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYBPC3	47316808	1.000000	0.71417	0.967000	0.41034	0.745000	0.42441	7.200000	0.77838	2.053000	0.61076	0.460000	0.39030	.	-	-		0.652	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	protein_coding	OTTHUMT00000392271.3	T		-	Intron	47360232	-1	no_errors	ENST00000399249	ensembl	human	known	74_37	splice_site	SNP	0.994	C	C	47360232	T	C	47360232	5	2	196	1	0	0	0	0	0	0	1	0	10015	1594	55	5	1725	5	MYBPC3	11	47360232	Splice_Site	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	6496	47360232	87646284	1371	14643											
OR4B1	119765	genome.wustl.edu	37	chr11	48238822	48238822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggggggcttttgtcactCcataattcagattctcgtta	10	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:48238822C>T	ENST00000309562.2	+	1	479	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	154						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						TTTTGTCACTCCATAATTCAG	0.468																																																	0								ENSG00000175619						96	95	95					11																	48238822		2201	4298	6499	OR4B1	SO:0001583	missense	0			-	HGNC	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.461C>T	11.37:g.48238822C>T	ENSP00000311605:p.Ser154Phe	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.17	Q6IF75|Q96R64	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S154F	ENST00000309562.2	37	c.461	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292565	0.40594	.	.	ENSG00000175619	ENST00000309562	T	0.44881	0.91	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.76219	0.3957	H	0.95950	3.745	0.43172	D	0.994978	D	0.89917	1.0	D	0.97110	1.0	D	0.84349	0.0531	10	0.87932	D	0	.	16.9799	0.86324	0.0:1.0:0.0:0.0	.	154	Q8NGF8	OR4B1_HUMAN	F	154	ENSP00000311605:S154F	ENSP00000311605:S154F	S	+	2	0	OR4B1	48195398	0.011000	0.17503	0.928000	0.36995	0.002000	0.02628	1.914000	0.39966	2.599000	0.87857	0.508000	0.49915	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	protein_coding	OTTHUMT00000390554.1	C	NM_001005470	-		48238822	1	no_errors	ENST00000309562	ensembl	human	known	74_37	missense	SNP	0.993	T	T	48238822	C	T	48238822	3	4	196	1	0	0	0	0	1	0	0	0	11046	855	30	2	463	2	OR4B1	11	48238822	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	878590	48238822	86767694	1372	14644											
OR4C3	256144	genome.wustl.edu	37	chr11	48346767	48346767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttcctggccaacctatCctttattgacaccttttatt	3	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:48346767C>T	ENST00000319856.4	+	1	296	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	65						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCAACCTATCCTTTATTGAC	0.468																																																	0								ENSG00000176547						151	136	141					11																	48346767		2201	4298	6499	OR4C3	SO:0001583	missense	0			-	HGNC	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.275C>T	11.37:g.48346767C>T	ENSP00000321419:p.Ser92Phe	Somatic	0	88	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	96	11.11	B2RNF2|Q6IFB3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S92F	ENST00000319856.4	37	c.275	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465519	0.63513	.	.	ENSG00000176547	ENST00000319856	T	0.12361	2.69	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.53351	0.1791	H	0.96547	3.84	0.33973	D	0.647028	D	0.89917	1.0	D	0.97110	1.0	T	0.74609	-0.3608	10	0.87932	D	0	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	65	Q8NH37	OR4C3_HUMAN	F	92	ENSP00000321419:S92F	ENSP00000321419:S92F	S	+	2	0	OR4C3	48303343	0.517000	0.26226	0.987000	0.45799	0.618000	0.37518	4.740000	0.62087	2.829000	0.97493	0.549000	0.68633	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	protein_coding	OTTHUMT00000390557.1	C	NM_001004702	-		48346767	1	no_errors	ENST00000319856	ensembl	human	known	74_37	missense	SNP	0.998	T	T	48346767	C	T	48346767	3	4	196	1	0	0	0	0	1	0	0	0	11052	855	30	2	277	2	OR4C3	11	48346767	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	107945	48346767	86659749	1373	14645											
OR4C46	119749	genome.wustl.edu	37	chr11	51515577	51515577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatggatgcatgactcaagTctttggagaacatttcttcg	9	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:51515577T>A	ENST00000328188.1	+	1	296	c.296T>A	c.(295-297)gTc>gAc	p.V99D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGACTCAAGTCTTTGGAGAA	0.453																																																	0								ENSG00000185926						150	141	144					11																	51515577		2201	4296	6497	OR4C46	SO:0001583	missense	0			-	HGNC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.296T>A	11.37:g.51515577T>A	ENSP00000329056:p.Val99Asp	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	65	34.34		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V99D	ENST00000328188.1	37	c.296	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	8.602	0.887139	0.17540	.	.	ENSG00000185926	ENST00000328188	T	0.02916	4.11	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.794830	0.10568	N	0.659431	T	0.10423	0.0255	M	0.86651	2.83	0.09310	N	1	P	0.45634	0.863	P	0.49192	0.602	T	0.09015	-1.0694	10	0.87932	D	0	.	8.8424	0.35151	0.0:0.0:0.0:1.0	.	99	A6NHA9	O4C46_HUMAN	D	99	ENSP00000329056:V99D	ENSP00000329056:V99D	V	+	2	0	OR4C46	51372153	0.039000	0.19947	0.004000	0.12327	0.056000	0.15407	2.550000	0.45811	1.239000	0.43787	0.113000	0.15668	GTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	protein_coding	OTTHUMT00000391155.1	T	NM_001004703	-		51515577	1	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	SNP	0.005	A	A	51515577	T	A	51515577	3	1	196	1	0	0	0	0	1	0	0	0	11053	1667	58	5	298	5	OR4C46	11	51515577	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3168810	51515577	83490939	1374	14646											
OR5L1	219437	genome.wustl.edu	37	chr11	55579328	55579328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtggccatctgtaaccCtttgctatacacagtcacca	6	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55579328C>T	ENST00000333973.2	+	1	475	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATCTGTAACCCTTTGCTATAC	0.507																																																	0								ENSG00000186117						210	171	184					11																	55579328		2200	4296	6496	OR5L1	SO:0001583	missense	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.386C>T	11.37:g.55579328C>T	ENSP00000335529:p.Pro129Leu	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	59	37.23	B2RNK6|Q6IFD0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P129L	ENST00000333973.2	37	c.386	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	c	19.91	3.914300	0.72983	.	.	ENSG00000186117	ENST00000333973	T	0.01902	4.57	4.18	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000124	T	0.15522	0.0374	M	0.94101	3.495	0.52099	D	0.999942	D	0.71674	0.998	D	0.69307	0.963	T	0.01030	-1.1475	10	0.87932	D	0	-15.775	11.0238	0.47732	0.0:0.905:0.0:0.095	.	129	Q8NGL2	OR5L1_HUMAN	L	129	ENSP00000335529:P129L	ENSP00000335529:P129L	P	+	2	0	OR5L1	55335904	1.000000	0.71417	0.004000	0.12327	0.132000	0.20833	5.674000	0.68117	0.730000	0.32425	0.435000	0.28638	CCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	C	NM_001004738	-		55579328	1	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	SNP	0.978	T	T	55579328	C	T	55579328	3	4	196	1	0	0	0	0	1	0	0	0	11172	681	24	2	388	2	OR5L1	11	55579328	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4063751	55579328	79427188	1375	14647											
OR5L1	219437	genome.wustl.edu	37	chr11	55579651	55579651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagagggcaggcacaaaGccttctccacctgtgcttcc	10	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55579651G>A	ENST00000333973.2	+	1	798	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CAGGCACAAAGCCTTCTCCAC	0.502																																																	0								ENSG00000186117						192	156	169					11																	55579651		2200	4296	6496	OR5L1	SO:0001583	missense	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.709G>A	11.37:g.55579651G>A	ENSP00000335529:p.Ala237Thr	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	42	19.23	B2RNK6|Q6IFD0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237T	ENST00000333973.2	37	c.709	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	g	18.23	3.576897	0.65878	.	.	ENSG00000186117	ENST00000333973	T	0.00357	7.89	4.12	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00496	0.0016	M	0.72118	2.19	0.38393	D	0.945466	P	0.48589	0.912	P	0.51297	0.665	T	0.77686	-0.2495	10	0.66056	D	0.02	-14.3821	12.7554	0.57333	0.0:0.1663:0.8336:0.0	.	237	Q8NGL2	OR5L1_HUMAN	T	237	ENSP00000335529:A237T	ENSP00000335529:A237T	A	+	1	0	OR5L1	55336227	1.000000	0.71417	0.076000	0.20297	0.834000	0.47266	4.753000	0.62183	0.726000	0.32339	0.428000	0.28381	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	G	NM_001004738	-		55579651	1	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55579651	G	A	55579651	3	1	196	1	0	0	0	0	1	0	0	0	11172	971	34	2	711	2	OR5L1	11	55579651	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	323	55579651	79426865	1376	14648											
OR5D18	219438	genome.wustl.edu	37	chr11	55587671	55587671	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcctcactactctccctttCttgctctgatacttacatca	2	16	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55587671C>T	ENST00000333976.4	+	1	586	c.566C>T	c.(565-567)tCt>tTt	p.S189F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	189						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(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCTCCCTTTCTTGCTCTGAT	0.403																																																	0								ENSG00000186119						204	183	190					11																	55587671		2200	4296	6496	OR5D18	SO:0001583	missense	0			-	HGNC	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.566C>T	11.37:g.55587671C>T	ENSP00000335025:p.Ser189Phe	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S189F	ENST00000333976.4	37	c.566	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631908	0.29068	.	.	ENSG00000186119	ENST00000333976	T	0.00299	8.22	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001757	T	0.00875	0.0029	M	0.92077	3.27	0.20563	N	0.999885	D	0.89917	1.0	D	0.79108	0.992	T	0.23154	-1.0196	10	0.87932	D	0	-31.3399	11.6438	0.51249	0.0:0.9121:0.0:0.0879	.	189	Q8NGL1	OR5DI_HUMAN	F	189	ENSP00000335025:S189F	ENSP00000335025:S189F	S	+	2	0	OR5D18	55344247	0.002000	0.14202	0.545000	0.28153	0.073000	0.16967	1.696000	0.37773	2.462000	0.83206	0.567000	0.79289	TCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.403	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	protein_coding	OTTHUMT00000391515.1	C	NM_001001952	-		55587671	1	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	SNP	0.430	T	T	55587671	C	T	55587671	3	4	196	1	0	0	0	0	1	0	0	0	11159	913	32	2	568	2	OR5D18	11	55587671	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8020	55587671	79418845	1377	14649											
OR8H3	390152	genome.wustl.edu	37	chr11	55890478	55890478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccaccctgatggtgtcCcttatcacaatatctgcatc	7	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55890478C>T	ENST00000313472.3	+	1	630	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGATGGTGTCCCTTATCACAA	0.428																																																	0								ENSG00000181761						195	177	183					11																	55890478		2201	4296	6497	OR8H3	SO:0001819	synonymous_variant	0			-	HGNC	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.630C>T	11.37:g.55890478C>T		Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	58	19.44	Q6IFB7	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S210	ENST00000313472.3	37	c.630	CCDS31519.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	protein_coding	OTTHUMT00000391541.1	C	NM_001005201	-		55890478	1	no_errors	ENST00000313472	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55890478	C	T	55890478	2	4	196	1	0	0	0	0	0	0	0	1	11241	610	22	2		2	OR8H3	11	55890478	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	302807	55890478	79116038	1378	14650											
OR5T2	219464	genome.wustl.edu	37	chr11	56000262	56000262	+	Missense_Mutation	SNP	G	G	A													cacctgtgctacacatccaaGgaatgaaatgactttattct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56000262G>A	ENST00000313264.4	-	1	475	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACACATCCAAGGAATGAAATG	0.388																																																	0								ENSG00000181718						134	121	125					11																	56000262		2201	4296	6497	OR5T2	SO:0001583	missense	0			-	HGNC	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.400C>T	11.37:g.56000262G>A	ENSP00000323688:p.Leu134Phe	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	34.62	B9EGX5|Q6IFC8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L134F	ENST00000313264.4	37	c.400	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	G	0.756	-0.771112	0.02974	.	.	ENSG00000181718	ENST00000313264	T	0.00382	7.61	5.07	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	1.979650	0.02976	U	0.144941	T	0.00178	0.0005	L	0.41824	1.3	0.09310	N	1	B	0.14438	0.01	B	0.20577	0.03	T	0.50617	-0.8807	10	0.10111	T	0.7	.	1.433	0.02338	0.2805:0.2413:0.0888:0.3894	.	134	Q8NGG2	OR5T2_HUMAN	F	134	ENSP00000323688:L134F	ENSP00000323688:L134F	L	-	1	0	OR5T2	55756838	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.069000	0.00082	-2.492000	0.00516	-0.514000	0.04452	CTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	protein_coding	OTTHUMT00000391598.1	G	NM_001004746	-		56000262	-1	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	SNP	0.000	A	A	56000262	G	A	56000262	3	1	196	1	0	0	0	0	1	0	0	0	11184	1000	35	2	678	2	OR5T2	11	56000262	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	109784	56000262	79006254	1379	14651	303	2									
OR5T2	219464	genome.wustl.edu	37	chr11	56000263	56000263	+	Silent	SNP	G	G	A													acctgtgctacacatccaagGaatgaaatgactttattctt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56000263G>A	ENST00000313264.4	-	1	474	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CACATCCAAGGAATGAAATGA	0.388																																																	0								ENSG00000181718						133	120	125					11																	56000263		2201	4296	6497	OR5T2	SO:0001819	synonymous_variant	0			-	HGNC	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.399C>T	11.37:g.56000263G>A		Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	34.62	B9EGX5|Q6IFC8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F133	ENST00000313264.4	37	c.399	CCDS31523.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	protein_coding	OTTHUMT00000391598.1	G	NM_001004746	-		56000263	-1	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	SNP	0.000	A	A	56000263	G	A	56000263	2	1	196	1	0	0	0	0	0	0	0	1	11184	1165	41	2		2	OR5T2	11	56000263	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	56000263	79006253	1380	14652	303	2									
OR5M9	390162	genome.wustl.edu	37	chr11	56230598	56230598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcactgcaccaagcatcCcacataggaaatggtttttg	9	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56230598C>T	ENST00000279791.1	-	1	279	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	94						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACCAAGCATCCCACATAGGAA	0.493																																																	0								ENSG00000150269						115	111	112					11																	56230598		2201	4296	6497	OR5M9	SO:0001583	missense	0			-	HGNC	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.280G>A	11.37:g.56230598C>T	ENSP00000279791:p.Gly94Arg	Somatic	0	17	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q6IEW5|Q96RB9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G94R	ENST00000279791.1	37	c.280	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861748	0.17178	.	.	ENSG00000150269	ENST00000279791	T	0.09817	2.94	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000229	T	0.17577	0.0422	M	0.76574	2.34	0.18873	N	0.999985	B	0.23854	0.092	B	0.27262	0.078	T	0.11991	-1.0565	10	0.72032	D	0.01	-9.6729	14.8797	0.70522	0.0:1.0:0.0:0.0	.	94	Q8NGP3	OR5M9_HUMAN	R	94	ENSP00000279791:G94R	ENSP00000279791:G94R	G	-	1	0	OR5M9	55987174	0.225000	0.23685	0.031000	0.17742	0.131000	0.20780	4.519000	0.60517	2.283000	0.76528	0.549000	0.68633	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.493	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	protein_coding	OTTHUMT00000391638.1	C	NM_001004743	-		56230598	-1	no_errors	ENST00000279791	ensembl	human	known	74_37	missense	SNP	0.284	T	T	56230598	C	T	56230598	3	4	196	1	0	0	0	0	1	0	0	0	11179	632	22	2	654	2	OR5M9	11	56230598	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	230335	56230598	78775918	1381	14653											
OR5M11	219487	genome.wustl.edu	37	chr11	56310062	56310062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgctgatttgatccggagGatggcagcaagaatgaaggc	14	7	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56310062G>A	ENST00000528616.2	-	1	695	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGATCCGGAGGATGGCAGCAA	0.498																																																	0								ENSG00000255223						83	84	84					11																	56310062		2050	4217	6267	OR5M11	SO:0001819	synonymous_variant	0			-	HGNC	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.672C>T	11.37:g.56310062G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	B2RNL5|B2RNL7	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I224	ENST00000528616.2	37	c.672	CCDS53629.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	protein_coding	OTTHUMT00000391608.1	G	NM_001005245	-		56310062	-1	no_errors	ENST00000528616	ensembl	human	known	74_37	silent	SNP	0.071	A	A	56310062	G	A	56310062	2	1	196	1	0	0	0	0	0	0	0	1	11176	1164	41	2		2	OR5M11	11	56310062	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	79464	56310062	78696454	1382	14654											
OR5M1	390168	genome.wustl.edu	37	chr11	56380052	56380052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactgcaattttatgaaaGgattttcccctaatcatttg	5	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56380052G>A	ENST00000526538.1	-	1	926	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	309						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTTATGAAAGGATTTTCCCC	0.378																																																	0								ENSG00000255012						136	135	135					11																	56380052		1849	4096	5945	OR5M1	SO:0001819	synonymous_variant	0			-	HGNC	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.927C>T	11.37:g.56380052G>A		Somatic	0	82	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	63	24.10	Q6IF60|Q96RB6	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S309	ENST00000526538.1	37	c.927	CCDS53631.1	11																																																																																			-	NULL		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	G	NM_001004740	-		56380052	-1	no_errors	ENST00000526538	ensembl	human	known	74_37	silent	SNP	0.000	A	A	56380052	G	A	56380052	2	1	196	1	0	0	0	0	0	0	0	1	11174	987	35	2		2	OR5M1	11	56380052	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	69990	56380052	78626464	1383	14655											
APLNR	187	genome.wustl.edu	37	chr11	57004039	57004039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaactgccgtggccacgGccccgctgacccgcagcctc	11	18	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57004039G>A	ENST00000606794.1	-	1	636	c.440C>T	c.(439-441)gCc>gTc	p.A147V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	147					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGTGGCCACGGCCCCGCTGAC	0.657																																																	0								ENSG00000134817						31	29	29					11																	57004039		2200	4294	6494	APLNR	SO:0001583	missense	0			-	HGNC	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.440C>T	11.37:g.57004039G>A	ENSP00000475344:p.Ala147Val	Somatic	0	23	0		0.52429534266604	20	13.04	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.A147V	ENST00000606794.1	37	c.440	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655143	0.14580	.	.	ENSG00000134817	ENST00000257254	T	0.36157	1.27	5.25	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.885835	0.09854	N	0.747141	T	0.25121	0.0610	L	0.33792	1.035	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08889	-1.0700	10	0.45353	T	0.12	-13.6235	3.0751	0.06243	0.1981:0.2958:0.5062:0.0	.	147	P35414	APJ_HUMAN	V	147	ENSP00000257254:A147V	ENSP00000257254:A147V	A	-	2	0	APLNR	56760615	0.001000	0.12720	0.987000	0.45799	0.688000	0.40055	0.742000	0.26216	2.448000	0.82819	0.555000	0.69702	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.657	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	protein_coding	OTTHUMT00000470575.1	G	NM_005161	-		57004039	-1	no_errors	ENST00000257254	ensembl	human	known	74_37	missense	SNP	0.062	A	A	57004039	G	A	57004039	3	1	196	1	0	0	0	0	1	0	0	0	777	1203	42	2	706	2	APLNR	11	57004039	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	623987	57004039	78002477	1384	14656											
SERPING1	710	genome.wustl.edu	37	chr11	57381830	57381830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttcttatgaccttaacCtgtgtgggctgacagaggac	10	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57381830C>T	ENST00000278407.4	+	8	1506	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	SERPING1_ENST00000340687.6_Silent_p.L390L|SERPING1_ENST00000403558.1_Silent_p.L470L|SERPING1_ENST00000378323.4_Silent_p.L432L|SERPING1_ENST00000378324.2_Silent_p.L375L	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	427					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGACCTTAACCTGTGTGGGCT	0.517																																																	0			GRCh37	CD084223	SERPING1	D		ENSG00000149131						95	94	94					11																	57381830		2201	4296	6497	SERPING1	SO:0001819	synonymous_variant	0			-	HGNC	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1279C>T	11.37:g.57381830C>T		Somatic	0	42	0		0.52429534266604	1270	50.23	1285	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	38	30.91	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L427	ENST00000278407.4	37	c.1279	CCDS7962.1	11																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	protein_coding	OTTHUMT00000317465.1	C	NM_000062	-		57381830	1	no_errors	ENST00000278407	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57381830	C	T	57381830	2	4	196	1	0	0	0	0	0	0	0	1	14124	680	24	2		2	SERPING1	11	57381830	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	377791	57381830	77624686	1385	14657											
OR9I1	219954	genome.wustl.edu	37	chr11	57886531	57886531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccacggtatagagcagtGggttgcgaatggcagcatag	16	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57886531G>A	ENST00000302610.1	-	1	385	c.386C>T	c.(385-387)cCa>cTa	p.P129L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ATAGAGCAGTGGGTTGCGAAT	0.557																																																	0								ENSG00000172377						50	46	48					11																	57886531		2201	4296	6497	OR9I1	SO:0001583	missense	0			-	HGNC	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.386C>T	11.37:g.57886531G>A	ENSP00000302606:p.Pro129Leu	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	Q6IFH0|Q96RA8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P129L	ENST00000302610.1	37	c.386	CCDS31542.1	11	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472912	0.63737	.	.	ENSG00000172377	ENST00000302610	T	0.01902	4.57	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000191	T	0.19725	0.0474	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02345	-1.1173	10	0.87932	D	0	-15.7393	17.5525	0.87880	0.0:0.0:1.0:0.0	.	129	Q8NGQ6	OR9I1_HUMAN	L	129	ENSP00000302606:P129L	ENSP00000302606:P129L	P	-	2	0	OR9I1	57643107	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	9.391000	0.97249	2.809000	0.96659	0.467000	0.42956	CCA	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.557	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9I1	protein_coding	OTTHUMT00000394539.1	G	NM_001005211	-		57886531	-1	no_errors	ENST00000302610	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57886531	G	A	57886531	3	1	196	1	0	0	0	0	1	0	0	0	11255	1348	47	2	562	2	OR9I1	11	57886531	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	504701	57886531	77119985	1386	14658											
OR10W1	81341	genome.wustl.edu	37	chr11	58034517	58034517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttgagcagtggggttcCcaatgtgtacaccagtgaga	15	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:58034517C>T	ENST00000395079.2	-	1	1215	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	272						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)				AGTGGGGTTCCCAATGTGTAC	0.542																																																	0								ENSG00000172772						106	97	100					11																	58034517		2201	4295	6496	OR10W1	SO:0001583	missense	0			-	HGNC	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.814G>A	11.37:g.58034517C>T	ENSP00000378516:p.Gly272Arg	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	28.79	A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G272R	ENST00000395079.2	37	c.814	CCDS7968.1	11	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037970	0.54896	.	.	ENSG00000172772	ENST00000395079	T	0.00099	8.73	5.7	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.135206	0.34025	N	0.004322	T	0.00241	0.0007	L	0.55990	1.75	0.09310	N	1	P	0.50819	0.939	P	0.52267	0.694	T	0.45891	-0.9230	10	0.87932	D	0	.	8.1253	0.30995	0.1296:0.7303:0.0:0.1402	.	272	Q8NGF6	O10W1_HUMAN	R	272	ENSP00000378516:G272R	ENSP00000378516:G272R	G	-	1	0	OR10W1	57791093	0.000000	0.05858	0.025000	0.17156	0.754000	0.42855	-0.106000	0.10890	1.390000	0.46547	0.655000	0.94253	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	protein_coding	OTTHUMT00000394704.1	C	NM_207374	-		58034517	-1	no_errors	ENST00000395079	ensembl	human	known	74_37	missense	SNP	0.001	T	T	58034517	C	T	58034517	3	4	196	1	0	0	0	0	1	0	0	0	10923	632	22	2	107	2	OR10W1	11	58034517	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	147986	58034517	76971999	1387	14659											
GLYAT	10249	genome.wustl.edu	37	chr11	58480281	58480281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagttctggtgatccaaGgaattcctgacagttttggg	13	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:58480281G>A	ENST00000344743.3	-	4	409	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	GLYAT_ENST00000278400.3_Missense_Mutation_p.L90F|GLYAT_ENST00000529732.1_Missense_Mutation_p.L90F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	90					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGTGATCCAAGGAATTCCTGA	0.398																																																	0								ENSG00000149124						224	200	208					11																	58480281		2201	4295	6496	GLYAT	SO:0001583	missense	0			-	HGNC	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.268C>T	11.37:g.58480281G>A	ENSP00000340200:p.Leu90Phe	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	O14833|Q96QK7	Missense_Mutation	SNP							pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.L90F	ENST00000344743.3	37	c.268	CCDS7970.1	11	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323293	0.41096	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.28666	1.6;1.6;1.6	5.76	3.87	0.44632	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.224693	0.38959	N	0.001504	T	0.61098	0.2320	M	0.93939	3.475	0.35420	D	0.793164	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72704	-0.4213	10	0.87932	D	0	-20.2372	7.7003	0.28619	0.0828:0.0:0.7557:0.1616	.	90;90	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	F	90	ENSP00000340200:L90F;ENSP00000431688:L90F;ENSP00000278400:L90F	ENSP00000278400:L90F	L	-	1	0	GLYAT	58236857	0.156000	0.22821	0.636000	0.29352	0.088000	0.18126	0.789000	0.26886	0.872000	0.35775	0.650000	0.86243	CTT	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.398	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	protein_coding	OTTHUMT00000394593.1	G		-		58480281	-1	no_errors	ENST00000344743	ensembl	human	known	74_37	missense	SNP	0.852	A	A	58480281	G	A	58480281	3	1	196	1	0	0	0	0	1	0	0	0	6481	1000	35	2	638	2	GLYAT	11	58480281	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	445764	58480281	76526235	1388	14660											
TCN1	6947	genome.wustl.edu	37	chr11	59629151	59629151	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggggagtgccattgtgTgcttctagaaaagagaagaa	14	5	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:59629151T>A	ENST00000257264.3	-	4	509	c.405A>T	c.(403-405)gcA>gcT	p.A135A	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	135	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCATTGTGTGCTTCTAGAA	0.428																																																	0								ENSG00000134827						83	80	81					11																	59629151		2201	4295	6496	TCN1	SO:0001819	synonymous_variant	0			-	HGNC	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.405A>T	11.37:g.59629151T>A		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	A8KAC5|Q8WV77	Silent	SNP							pfam_Cbl-bd_transpt_euk	p.A135	ENST00000257264.3	37	c.405	CCDS7978.1	11																																																																																			-	pfam_Cbl-bd_transpt_euk		0.428	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	protein_coding	OTTHUMT00000394503.1	T	NM_001062	-		59629151	-1	no_errors	ENST00000257264	ensembl	human	known	74_37	silent	SNP	0.040	A	A	59629151	T	A	59629151	2	1	196	1	0	0	0	0	0	0	0	1	15713	1683	59	5		5	TCN1	11	59629151	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1148870	59629151	75377365	1389	14661											
MS4A1	931	genome.wustl.edu	37	chr11	60235885	60235885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaacagagacgaactttCcagaacctccccaagatcag	7	12	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:60235885C>T	ENST00000534668.1	+	7	1127	c.838C>T	c.(838-840)Cca>Tca	p.P280S	MS4A1_ENST00000532073.1_Missense_Mutation_p.P267S|MS4A1_ENST00000389939.2_Missense_Mutation_p.P280S|MS4A1_ENST00000528313.1_Missense_Mutation_p.P113S|MS4A1_ENST00000345732.4_Missense_Mutation_p.P280S	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	280					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GACGAACTTTCCAGAACCTCC	0.378																																																	0								ENSG00000156738						106	104	105					11																	60235885		2203	4300	6503	MS4A1	SO:0001583	missense	0			-	HGNC	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.838C>T	11.37:g.60235885C>T	ENSP00000433277:p.Pro280Ser	Somatic	0	88	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	88	30.16	A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP							pfam_CD20-like	p.P280S	ENST00000534668.1	37	c.838	CCDS31570.1	11	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952877	0.34471	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.52295	1.54;0.67;1.54;1.54	5.32	3.41	0.39046	.	8.433920	0.00166	N	0.000001	T	0.59115	0.2170	L	0.32530	0.975	0.35788	D	0.822161	D;P;P	0.53312	0.959;0.931;0.931	P;B;B	0.57960	0.83;0.381;0.381	T	0.39035	-0.9633	10	0.66056	D	0.02	-8.0915	12.3897	0.55352	0.0:0.6419:0.3581:0.0	.	113;267;280	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	S	280;267;280;113;280	ENSP00000314620:P280S;ENSP00000433519:P267S;ENSP00000433277:P280S;ENSP00000374589:P280S	ENSP00000314620:P280S	P	+	1	0	MS4A1	59992461	0.901000	0.30685	0.804000	0.32291	0.544000	0.35116	1.371000	0.34250	0.693000	0.31634	0.655000	0.94253	CCA	-	NULL		0.378	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A1	protein_coding	OTTHUMT00000395402.1	C		-		60235885	1	no_errors	ENST00000345732	ensembl	human	known	74_37	missense	SNP	0.957	T	T	60235885	C	T	60235885	3	4	196	1	0	0	0	0	1	0	0	0	9856	855	30	2	860	2	MS4A1	11	60235885	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	606734	60235885	74770631	1390	14662											
SCGB1A1	7356	genome.wustl.edu	37	chr11	62189806	62189806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctgatcaagacatgaggGaggcaggggctcagctgaag	16	9	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62189806G>A	ENST00000278282.2	+	2	230	c.169G>A	c.(169-171)Gag>Aag	p.E57K	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_Missense_Mutation_p.E22K	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	57					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						AGACATGAGGGAGGCAGGGGC	0.542																																																	0								ENSG00000149021						118	105	110					11																	62189806		2202	4299	6501	SCGB1A1	SO:0001583	missense	0			-	HGNC		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"Secretoglobins"	12523	protein-coding gene	gene with protein product	"Uteroglobin (Clara-cell specific 10-kD protein)"	192020	"uteroglobin"	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.169G>A	11.37:g.62189806G>A	ENSP00000278282:p.Glu57Lys	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	44	41.33	B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP							pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin	p.E57K	ENST00000278282.2	37	c.169	CCDS8020.1	11	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294122	0.40594	.	.	ENSG00000149021	ENST00000534397;ENST00000278282	T;T	0.26810	1.71;1.71	4.74	0.252	0.15545	.	1.843420	0.03033	N	0.152346	T	0.16557	0.0398	.	.	.	0.09310	N	1	B	0.30727	0.292	B	0.28916	0.096	T	0.14364	-1.0475	9	0.32370	T	0.25	-19.0618	3.4495	0.07493	0.3318:0.0:0.4939:0.1743	.	57	P11684	UTER_HUMAN	K	22;57	ENSP00000432866:E22K;ENSP00000278282:E57K	ENSP00000278282:E57K	E	+	1	0	SCGB1A1	61946382	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.674000	0.05233	-0.147000	0.11254	-0.345000	0.07892	GAG	-	pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin		0.542	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1A1	protein_coding	OTTHUMT00000394925.1	G	NM_003357	-		62189806	1	no_errors	ENST00000278282	ensembl	human	known	74_37	missense	SNP	0.000	A	A	62189806	G	A	62189806	3	1	196	1	0	0	0	0	1	0	0	0	13902	1175	41	2	175	2	SCGB1A1	11	62189806	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1953921	62189806	72816710	1391	14663											
AHNAK	79026	genome.wustl.edu	37	chr11	62287631	62287631	+	Missense_Mutation	SNP	G	G	A													ggcccttgatgtcagcttctGggcccttgaggtcaccttcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62287631G>A	ENST00000378024.4	-	5	14532	c.14258C>T	c.(14257-14259)cCa>cTa	p.P4753L	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4753					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGCTTCTGGGCCCTTGAG	0.507																																																	0								ENSG00000124942						169	161	164					11																	62287631		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14258C>T	11.37:g.62287631G>A	ENSP00000367263:p.Pro4753Leu	Somatic	0	153	0		0.52429534266604	22	29.03	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	119	34.43	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P4753L	ENST00000378024.4	37	c.14258	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954617	0.53293	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.42040	0.1185	H	0.97806	4.08	0.50632	D	0.999881	D	0.89917	1.0	D	0.97110	1.0	T	0.65413	-0.6174	10	0.59425	D	0.04	-9.6623	17.4612	0.87620	0.0:0.0:1.0:0.0	.	4753	Q09666	AHNK_HUMAN	L	4753	ENSP00000367263:P4753L	ENSP00000367263:P4753L	P	-	2	0	AHNAK	62044207	0.001000	0.12720	0.457000	0.27056	0.772000	0.43724	0.617000	0.24359	2.206000	0.71126	0.478000	0.44815	CCA	-	NULL		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	G	NM_024060	-		62287631	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	0.942	A	A	62287631	G	A	62287631	3	1	196	1	0	0	0	0	1	0	0	0	414	1348	47	2	3534	2	AHNAK	11	62287631	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	97825	62287631	72718885	1392	14664	304	2									
AHNAK	79026	genome.wustl.edu	37	chr11	62287632	62287632	+	Missense_Mutation	SNP	G	G	A													gcccttgatgtcagcttctgGgcccttgaggtcaccttcca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62287632G>A	ENST00000378024.4	-	5	14531	c.14257C>T	c.(14257-14259)Cca>Tca	p.P4753S	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4753					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGCTTCTGGGCCCTTGAGG	0.507																																																	0								ENSG00000124942						168	161	163					11																	62287632		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14257C>T	11.37:g.62287632G>A	ENSP00000367263:p.Pro4753Ser	Somatic	0	153	0		0.52429534266604	22	29.03	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	120	33.70	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P4753S	ENST00000378024.4	37	c.14257	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164920	0.57476	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.40670	0.1126	H	0.97806	4.08	0.39859	D	0.973342	D	0.89917	1.0	D	0.91635	0.999	T	0.62695	-0.6800	10	0.30854	T	0.27	-9.6623	17.4612	0.87620	0.0:0.0:1.0:0.0	.	4753	Q09666	AHNK_HUMAN	S	4753	ENSP00000367263:P4753S	ENSP00000367263:P4753S	P	-	1	0	AHNAK	62044208	0.000000	0.05858	0.457000	0.27056	0.779000	0.44077	-0.606000	0.05654	2.206000	0.71126	0.478000	0.44815	CCA	-	NULL		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	G	NM_024060	-		62287632	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	0.950	A	A	62287632	G	A	62287632	3	1	196	1	0	0	0	0	1	0	0	0	414	1232	43	2	3535	2	AHNAK	11	62287632	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	62287632	72718884	1393	14665	304	2									
NXF1	10482	genome.wustl.edu	37	chr11	62568890	62568890	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgttctgggccaccaaatCttcaggaagcagaagggaag	12	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62568890C>T	ENST00000532297.1	-	9	1339		c.e9-1		NXF1_ENST00000531709.2_Splice_Site|NXF1_ENST00000294172.2_Splice_Site|NXF1_ENST00000439713.2_Splice_Site|NXF1_ENST00000531131.1_Splice_Site			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCACCAAATCTTCAGGAAGC	0.498																																																	0								ENSG00000162231						67	60	62					11																	62568890		2201	4299	6500	NXF1	SO:0001630	splice_region_variant	0			-	HGNC	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.710-1G>A	11.37:g.62568890C>T		Somatic	0	40	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	B4E269|Q99799|Q9UQL2	Splice_Site	SNP							-	e8-1	ENST00000532297.1	37	c.710-1	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439437	0.83885	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3748	0.83382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF1	62325466	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.461000	0.80834	2.466000	0.83321	0.655000	0.94253	.	-	-		0.498	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	protein_coding	OTTHUMT00000395365.2	C	NM_006362	-	Intron	62568890	-1	no_errors	ENST00000294172	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	62568890	C	T	62568890	5	4	196	1	0	0	0	0	0	0	1	0	10784	927	32	2	1261	2	NXF1	11	62568890	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	281258	62568890	72437626	1394	14666											
SLC22A24	283238	genome.wustl.edu	37	chr11	62863494	62863494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccgaagactctcattcGcaatttgggtgcacggaaca	11	11	1	1	rs374095536	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62863494G>A	ENST00000417740.1	-	6	1480	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						ACTCTCATTCGCAATTTGGGT	0.398													G|||	18	0.00359425	0.0136	0	5008	,	,		20485	0		0	False		,,,				2504	0																0								ENSG00000197658	G	stop/ARG	6,1378		0,6,686	112	97	101		1039	-2.4	0	11		101	0,3182		0,0,1591	no	stop-gained	SLC22A24	NM_001136506.2		0,6,2277	AA,AG,GG		0.0,0.4335,0.1314		347/553	62863494	6,4560	692	1591	2283	SLC22A24	SO:0001587	stop_gained	0			-	HGNC		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1039C>T	11.37:g.62863494G>A	ENSP00000396586:p.Arg347*	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35		Nonsense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R347*	ENST00000417740.1	37	c.1039		11	.	.	.	.	.	.	.	.	.	.	G	36	5.759821	0.96898	0.004335	0.0	ENSG00000197658	ENST00000417740	.	.	.	3.68	-2.38	0.06622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9332	0.05805	0.3043:0.0:0.3715:0.3242	.	.	.	.	X	347	.	ENSP00000396586:R347X	R	-	1	2	SLC22A24	62620070	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.203000	0.17315	-0.596000	0.05821	-0.272000	0.10252	CGA	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	protein_coding	OTTHUMT00000383747.1	G	NM_173586	-		62863494	-1	no_errors	ENST00000417740	ensembl	human	putative	74_37	nonsense	SNP	0.000	A	A	62863494	G	A	62863494	4	1	196	1	0	0	0	0	0	1	0	0	14461	1095	38	1	634	1	SLC22A24	11	62863494	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	294604	62863494	72143022	1395	14667											
SLC22A9	114571	genome.wustl.edu	37	chr11	63137867	63137867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacaagtgacgcagacatGgagccctgtgtggatggctg	14	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63137867G>A	ENST00000279178.3	+	1	588	c.339G>A	c.(337-339)atG>atA	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522																																																	0								ENSG00000149742						126	105	112					11																	63137867		2201	4298	6499	SLC22A9	SO:0001583	missense	0			-	HGNC	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.339G>A	11.37:g.63137867G>A	ENSP00000279178:p.Met113Ile	Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	104	16.13	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M113I	ENST00000279178.3	37	c.339	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	g	4.916	0.170169	0.09339	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.62639	0.57;0.01	3.3	-3.6	0.04570	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.397771	0.26265	N	0.025364	T	0.31389	0.0795	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14839	-1.0458	10	0.56958	D	0.05	.	10.4064	0.44260	0.7628:0.0:0.2372:0.0	.	113	Q8IVM8	S22A9_HUMAN	I	113	ENSP00000311527:M113I;ENSP00000279178:M113I	ENSP00000279178:M113I	M	+	3	0	SLC22A9	62894443	0.000000	0.05858	0.572000	0.28498	0.107000	0.19398	-3.863000	0.00347	-0.924000	0.03780	0.134000	0.15878	ATG	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.522	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	protein_coding	OTTHUMT00000396371.1	G	NM_080866	-		63137867	1	no_errors	ENST00000279178	ensembl	human	known	74_37	missense	SNP	0.017	A	A	63137867	G	A	63137867	3	1	196	1	0	0	0	0	1	0	0	0	14469	1348	47	2	341	2	SLC22A9	11	63137867	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	274373	63137867	71868649	1396	14668											
HRASLS5	117245	genome.wustl.edu	37	chr11	63233660	63233660	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaatcaggctgtactgcacGatcttgttgaccatcttttt	7	10	4	1	rs577620226		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63233660G>A	ENST00000301790.4	-	5	828	c.669C>T	c.(667-669)atC>atT	p.I223I	HRASLS5_ENST00000539221.1_Silent_p.I223I|HRASLS5_ENST00000540857.1_Silent_p.I213I			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	223							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517													G|||	1	0.000199681	0	0	5008	,	,		20111	0		0	False		,,,				2504	0.001																0								ENSG00000168004						266	187	214					11																	63233660		2201	4298	6499	HRASLS5	SO:0001819	synonymous_variant	0			-	HGNC	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.669C>T	11.37:g.63233660G>A		Somatic	0	47	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	B7X6T1|F5GZ87|F5H4Y9	Silent	SNP							pfam_LRAT-like_dom	p.I223	ENST00000301790.4	37	c.669	CCDS8044.1	11																																																																																			-	pfam_LRAT-like_dom		0.517	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	protein_coding	OTTHUMT00000396375.1	G	NM_054108	-		63233660	-1	no_errors	ENST00000301790	ensembl	human	known	74_37	silent	SNP	0.011	A	A	63233660	G	A	63233660	2	1	196	1	0	0	0	0	0	0	0	1	7353	1048	37	1		1	HRASLS5	11	63233660	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	95793	63233660	71772856	1397	14669											
RARRES3	5920	genome.wustl.edu	37	chr11	63307081	63307081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggagatggctacgtgatcCatctggctcctccaagtaag	11	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63307081C>T	ENST00000255688.3	+	2	151	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	RARRES3_ENST00000354445.2_Missense_Mutation_p.H35Y|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000439013.2_Missense_Mutation_p.H35Y	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473																																																	0								ENSG00000133321						105	109	108					11																	63307081		2194	4297	6491	RARRES3	SO:0001583	missense	0			-	HGNC		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.103C>T	11.37:g.63307081C>T	ENSP00000255688:p.His35Tyr	Somatic	0	58	0		0.52429534266604	222	41.62	159	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	55	40.22	B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP							pfam_LRAT-like_dom	p.H35Y	ENST00000255688.3	37	c.103	CCDS41662.1	11	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209579	0.58343	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.45276	0.9;0.9;0.9	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.70649	0.3248	H	0.94582	3.555	0.28043	N	0.933671	D	0.89917	1.0	D	0.97110	1.0	T	0.68830	-0.5305	10	0.87932	D	0	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	Y	35	ENSP00000402943:H35Y;ENSP00000255688:H35Y;ENSP00000346431:H35Y	ENSP00000255688:H35Y	H	+	1	0	RARRES3	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT	-	NULL		0.473	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARRES3	protein_coding	OTTHUMT00000396629.1	C		-		63307081	1	no_errors	ENST00000255688	ensembl	human	known	74_37	missense	SNP	0.999	T	T	63307081	C	T	63307081	3	4	196	1	0	0	0	0	1	0	0	0	13065	594	21	2	109	2	RARRES3	11	63307081	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	73421	63307081	71699435	1398	14670											
MARK2	2011	genome.wustl.edu	37	chr11	63667576	63667576	+	Silent	SNP	C	C	T													ctgccttttgatggacagaaCctcaaggtggagtgaagtgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63667576C>T	ENST00000509502.2	+	8	1126	c.663C>T	c.(661-663)aaC>aaT	p.N221N	MARK2_ENST00000361128.5_Silent_p.N254N|MARK2_ENST00000502399.3_Silent_p.N254N|MARK2_ENST00000377809.4_Silent_p.N254N|MARK2_ENST00000350490.7_Silent_p.N254N|MARK2_ENST00000377810.3_Silent_p.N221N|MARK2_ENST00000413835.2_Silent_p.N254N|MARK2_ENST00000513765.2_Silent_p.N221N|MARK2_ENST00000315032.8_Silent_p.N254N|MARK2_ENST00000408948.3_Silent_p.N221N|MARK2_ENST00000508192.1_Silent_p.N254N|MARK2_ENST00000402010.2_Silent_p.N254N|MARK2_ENST00000425897.2_Silent_p.N221N	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGGACAGAACCTCAAGGTGG	0.502																																																	0								ENSG00000072518						157	169	165					11																	63667576		2201	4297	6498	MARK2	SO:0001819	synonymous_variant	0			-	HGNC	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.663C>T	11.37:g.63667576C>T		Somatic	0	68	0		0.52429534266604	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	61	35.79		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N254	ENST00000509502.2	37	c.762	CCDS41665.1	11																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	protein_coding	OTTHUMT00000360862.2	C	NM_017490	-		63667576	1	no_errors	ENST00000402010	ensembl	human	known	74_37	silent	SNP	1.000	T	T	63667576	C	T	63667576	2	4	196	1	0	0	0	0	0	0	0	1	9315	506	18	2		2	MARK2	11	63667576	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	360495	63667576	71338940	1399	14671	305	2									
MARK2	2011	genome.wustl.edu	37	chr11	63667577	63667577	+	Missense_Mutation	SNP	C	C	T													tgccttttgatggacagaacCtcaaggtggagtgaagtgca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63667577C>T	ENST00000509502.2	+	8	1127	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	MARK2_ENST00000361128.5_Missense_Mutation_p.L255F|MARK2_ENST00000502399.3_Missense_Mutation_p.L255F|MARK2_ENST00000377809.4_Missense_Mutation_p.L255F|MARK2_ENST00000350490.7_Missense_Mutation_p.L255F|MARK2_ENST00000377810.3_Missense_Mutation_p.L222F|MARK2_ENST00000413835.2_Missense_Mutation_p.L255F|MARK2_ENST00000513765.2_Missense_Mutation_p.L222F|MARK2_ENST00000315032.8_Missense_Mutation_p.L255F|MARK2_ENST00000408948.3_Missense_Mutation_p.L222F|MARK2_ENST00000508192.1_Missense_Mutation_p.L255F|MARK2_ENST00000402010.2_Missense_Mutation_p.L255F|MARK2_ENST00000425897.2_Missense_Mutation_p.L222F	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGACAGAACCTCAAGGTGGA	0.502																																																	0								ENSG00000072518						156	169	164					11																	63667577		2201	4297	6498	MARK2	SO:0001583	missense	0			-	HGNC	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.664C>T	11.37:g.63667577C>T	ENSP00000423974:p.Leu222Phe	Somatic	0	66	0		0.52429534266604	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	61	35.11		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L255F	ENST00000509502.2	37	c.763	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	c	23.9	4.472039	0.84533	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.035754	0.64402	D	0.000019	T	0.68412	0.2998	L	0.33245	0.995	0.80722	D	1	D;D;P;D;P;P	0.71674	0.989;0.998;0.928;0.998;0.765;0.928	D;D;P;D;P;P	0.77004	0.95;0.939;0.647;0.989;0.689;0.715	T	0.70048	-0.4979	10	0.87932	D	0	.	11.4851	0.50348	0.0:0.9175:0.0:0.0825	.	222;222;255;255;255;255	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	F	255;255;255;255;222;255;255;255;255;222;222;222;222	ENSP00000385751:L255F;ENSP00000326632:L255F;ENSP00000367040:L255F;ENSP00000389184:L255F;ENSP00000367041:L222F;ENSP00000425765:L255F;ENSP00000355091:L255F;ENSP00000294247:L255F;ENSP00000423974:L222F;ENSP00000421075:L222F;ENSP00000386128:L222F;ENSP00000415494:L222F	ENSP00000326632:L255F	L	+	1	0	MARK2	63424153	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.233000	0.51311	2.806000	0.96561	0.645000	0.84053	CTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	protein_coding	OTTHUMT00000360862.2	C	NM_017490	-		63667577	1	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63667577	C	T	63667577	3	4	196	1	0	0	0	0	1	0	0	0	9315	681	24	2	793	2	MARK2	11	63667577	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	63667577	71338939	1400	14672	305	2									
GPR137	56834	genome.wustl.edu	37	chr11	64056753	64056753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtctgccgcttcttgcCcaggatcctgggggtcgtgg	15	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64056753C>T	ENST00000313074.3	+	7	1275	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	KCNK4_ENST00000422670.2_5'Flank|GPR137_ENST00000539851.1_3'UTR|KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000377702.4_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000411458.1_Silent_p.A448A	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	390						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTCTTGCCCAGGATCCTG	0.662																																																	0								ENSG00000173264						105	108	106					11																	64056753		2201	4297	6498	GPR137	SO:0001819	synonymous_variant	0			-	HGNC	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1170C>T	11.37:g.64056753C>T		Somatic	0	40	0		0.52429534266604	158	43.01	120	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	40	38.46	B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP							NULL	p.A390	ENST00000313074.3	37	c.1170	CCDS8066.1	11																																																																																			-	NULL		0.662	GPR137-003	KNOWN	basic|CCDS	protein_coding	GPR137	protein_coding	OTTHUMT00000396412.1	C	NM_020155	-		64056753	1	no_errors	ENST00000313074	ensembl	human	known	74_37	silent	SNP	0.995	T	T	64056753	C	T	64056753	2	4	196	1	0	0	0	0	0	0	0	1	6647	610	22	2		2	GPR137	11	64056753	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	389176	64056753	70949763	1401	14673											
KCNK4	50801	genome.wustl.edu	37	chr11	64064350	64064350	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgcaccttgtcctgcagGaggtggctgatgccctggga	14	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64064350G>A	ENST00000539216.1	+	2	550	c.190G>A	c.(190-192)Gag>Aag	p.E64K	Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Splice_Site_p.E64K|KCNK4_ENST00000394525.2_Splice_Site_p.E64K|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_5'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	64					potassium ion transport (GO:0006813)|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)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TGTCCTGCAGGAGGTGGCTGA	0.617																																																	0								ENSG00000182450						43	50	47					11																	64064350		2201	4297	6498	KCNK4	SO:0001630	splice_region_variant	0			-	HGNC	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.190-1G>A	11.37:g.64064350G>A		Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	57	34.48	B5TJL1|Q96T94	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.E64K	ENST00000539216.1	37	c.190	CCDS8067.1	11	.	.	.	.	.	.	.	.	.	.	g	11.63	1.697006	0.30142	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.15834	2.39;2.39;2.39	5.3	3.01	0.34805	.	1.040070	0.07620	N	0.926843	T	0.10380	0.0254	N	0.22421	0.69	0.40793	D	0.983279	B	0.10296	0.003	B	0.14578	0.011	T	0.19418	-1.0306	10	0.06099	T	0.92	.	7.6051	0.28097	0.099:0.3307:0.5702:0.0	.	64	Q9NYG8	KCNK4_HUMAN	K	64;89;64;126;64	ENSP00000402797:E64K;ENSP00000378033:E64K;ENSP00000444948:E64K	ENSP00000378033:E64K	E	+	1	0	KCNK4	63820926	0.998000	0.40836	1.000000	0.80357	0.789000	0.44602	0.616000	0.24344	1.205000	0.43262	0.550000	0.68814	GAG	-	prints_2pore_dom_K_chnl_TREK		0.617	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	protein_coding	OTTHUMT00000396430.1	G	NM_033311	-	Missense_Mutation	64064350	1	no_errors	ENST00000394525	ensembl	human	known	74_37	missense	SNP	0.994	A	A	64064350	G	A	64064350	5	1	196	1	0	0	0	0	0	0	1	0	8070	1188	41	2	196	2	KCNK4	11	64064350	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7597	64064350	70942166	1402	14674											
SLC22A12	116085	genome.wustl.edu	37	chr11	64366349	64366349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgggcaccctgctcCgcatgcccggactgcgcttc	11	19	0	0	rs548145636	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64366349C>T	ENST00000377574.1	+	6	1771	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SLC22A12_ENST00000473690.1_Missense_Mutation_p.R121C|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R308C|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R234C|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R234C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	342					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACCCTGCTCCGCATGCCCGG	0.662													C|||	6	0.00119808	0	0	5008	,	,		17437	0		0	False		,,,				2504	0.0061																0								ENSG00000197891						43	38	39					11																	64366349		2201	4297	6498	SLC22A12	SO:0001583	missense	0			-	HGNC	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1024C>T	11.37:g.64366349C>T	ENSP00000366797:p.Arg342Cys	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	63	32.98	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R342C	ENST00000377574.1	37	c.1024	CCDS8075.1	11	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485133	0.26598	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	3.84	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.314276	0.33180	N	0.005200	T	0.48003	0.1476	L	0.47016	1.485	0.09310	N	1	B;B;B;B	0.24043	0.045;0.096;0.051;0.096	B;B;B;B	0.19946	0.016;0.027;0.01;0.027	T	0.40794	-0.9544	10	0.52906	T	0.07	.	8.0212	0.30410	0.0:0.5302:0.0:0.4698	.	308;342;234;342	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	C	234;342;234;121;308	ENSP00000366790:R234C;ENSP00000366797:R342C;ENSP00000366795:R234C;ENSP00000438437:R121C;ENSP00000336836:R308C	ENSP00000336836:R308C	R	+	1	0	SLC22A12	64122925	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.092000	0.11129	-0.232000	0.09811	0.455000	0.32223	CGC	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	protein_coding	OTTHUMT00000104966.2	C	NM_144585	-		64366349	1	no_errors	ENST00000377574	ensembl	human	known	74_37	missense	SNP	0.000	T	T	64366349	C	T	64366349	3	4	196	1	0	0	0	0	1	0	0	0	14451	652	23	1	1046	1	SLC22A12	11	64366349	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	301999	64366349	70640167	1403	14675											
BATF2	116071	genome.wustl.edu	37	chr11	64757112	64757112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggccagggcccaggagcCcctcagcctggtcccagcag	15	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64757112C>T	ENST00000301887.4	-	3	444	c.314G>A	c.(313-315)gGg>gAg	p.G105E	BATF2_ENST00000527716.1_Missense_Mutation_p.G81E|BATF2_ENST00000435842.2_Missense_Mutation_p.G20E	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	105					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCCCAGGAGCCCCTCAGCCTG	0.677																																																	0								ENSG00000168062						19	19	19					11																	64757112		2197	4290	6487	BATF2	SO:0001583	missense	0			-	HGNC	AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"basic leucine zipper proteins"	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.314G>A	11.37:g.64757112C>T	ENSP00000301887:p.Gly105Glu	Somatic	0	43	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	75	22.68	D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Missense_Mutation	SNP							pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.G105E	ENST00000301887.4	37	c.314	CCDS8087.1	11	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015515	0.19355	.	.	ENSG00000168062	ENST00000301887;ENST00000435842;ENST00000527716;ENST00000534177	T;T	0.41758	0.99;1.04	4.34	-5.65	0.02459	.	2.192410	0.02367	N	0.077498	T	0.20088	0.0483	N	0.14661	0.345	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.35101	-0.9802	10	0.02654	T	1	2.5417	7.6366	0.28270	0.0:0.2955:0.119:0.5854	.	105	Q8N1L9	BATF2_HUMAN	E	105;20;81;104	ENSP00000301887:G105E;ENSP00000435640:G104E	ENSP00000301887:G105E	G	-	2	0	BATF2	64513688	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.535000	0.06142	-1.154000	0.02825	-0.300000	0.09419	GGG	-	NULL		0.677	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF2	protein_coding	OTTHUMT00000385478.2	C	NM_138456	-		64757112	-1	no_errors	ENST00000301887	ensembl	human	known	74_37	missense	SNP	0.000	T	T	64757112	C	T	64757112	3	4	196	1	0	0	0	0	1	0	0	0	1326	623	22	2	514	2	BATF2	11	64757112	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	390763	64757112	70249404	1404	14676											
SPDYC	387778	genome.wustl.edu	37	chr11	64939415	64939415	+	Splice_Site	SNP	G	G	T													atgtcttctctaccctcagaGgacagttttgtccaggaatt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64939415G>T	ENST00000377185.2	+	3	283	c.201G>T	c.(199-201)gaG>gaT	p.E67D	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TACCCTCAGAGGACAGTTTTG	0.537																																																	0								ENSG00000204710						81	76	78					11																	64939415		2201	4297	6498	SPDYC	SO:0001630	splice_region_variant	0			-	HGNC	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.200-1G>T	11.37:g.64939415G>T		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	41.54		Missense_Mutation	SNP							pfam_Cell_cycle_regulatory_Spy1	p.E67D	ENST00000377185.2	37	c.201	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168735	0.38315	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.07	4.07	0.47477	.	0.146897	0.28047	N	0.016811	T	0.42630	0.1211	L	0.48935	1.535	0.28185	N	0.927982	D	0.56746	0.977	P	0.53912	0.737	T	0.22661	-1.0210	9	0.21014	T	0.42	.	7.5959	0.28048	0.1153:0.0:0.8847:0.0	.	67	Q5MJ68	SPDYC_HUMAN	D	67	.	ENSP00000366390:E67D	E	+	3	2	SPDYC	64695991	1.000000	0.71417	0.993000	0.49108	0.434000	0.31775	0.811000	0.27198	2.106000	0.64143	0.655000	0.94253	GAG	-	pfam_Cell_cycle_regulatory_Spy1		0.537	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	protein_coding	OTTHUMT00000385299.1	G	NM_001008778	-	Missense_Mutation	64939415	1	no_errors	ENST00000377185	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64939415	G	T	64939415	5	4	196	1	0	0	0	0	0	0	1	0	15035	1014	35	3	211	3	SPDYC	11	64939415	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	182303	64939415	70067101	1405	14677	306	2									
SPDYC	387778	genome.wustl.edu	37	chr11	64939416	64939416	+	Missense_Mutation	SNP	G	G	T													tgtcttctctaccctcagagGacagttttgtccaggaattc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64939416G>T	ENST00000377185.2	+	3	284	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCTCAGAGGACAGTTTTGT	0.532																																																	0								ENSG00000204710						81	77	78					11																	64939416		2201	4297	6498	SPDYC	SO:0001583	missense	0			-	HGNC	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.202G>T	11.37:g.64939416G>T	ENSP00000366390:p.Asp68Tyr	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	38	40.62		Missense_Mutation	SNP							pfam_Cell_cycle_regulatory_Spy1	p.D68Y	ENST00000377185.2	37	c.202	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548114	0.27652	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.07	2.2	0.27929	.	0.335627	0.19335	U	0.116813	T	0.49372	0.1553	M	0.78344	2.41	0.29420	N	0.860606	P	0.52577	0.954	P	0.52109	0.69	T	0.51317	-0.8721	9	0.87932	D	0	.	4.182	0.10380	0.267:0.3088:0.4242:0.0	.	68	Q5MJ68	SPDYC_HUMAN	Y	68	.	ENSP00000366390:D68Y	D	+	1	0	SPDYC	64695992	1.000000	0.71417	0.982000	0.44146	0.450000	0.32258	1.397000	0.34543	0.389000	0.25086	0.655000	0.94253	GAC	-	pfam_Cell_cycle_regulatory_Spy1		0.532	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	protein_coding	OTTHUMT00000385299.1	G	NM_001008778	-		64939416	1	no_errors	ENST00000377185	ensembl	human	known	74_37	missense	SNP	0.998	T	T	64939416	G	T	64939416	3	4	196	1	0	0	0	0	1	0	0	0	15035	1174	41	3	212	3	SPDYC	11	64939416	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	64939416	70067100	1406	14678	306	2									
DPF2	5977	genome.wustl.edu	37	chr11	65108975	65108975	+	Missense_Mutation	SNP	C	C	T													gaagcgaggtgccccggatcCccgagttgatgatgacagcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65108975C>T	ENST00000528416.1	+	4	540	c.407C>T	c.(406-408)cCc>cTc	p.P136L	DPF2_ENST00000415073.2_Missense_Mutation_p.P136L|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.P136L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	136					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GCCCCGGATCCCCGAGTTGAT	0.562																																																	0								ENSG00000133884						87	78	81					11																	65108975		2201	4297	6498	DPF2	SO:0001583	missense	0			-	HGNC	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.407C>T	11.37:g.65108975C>T	ENSP00000436901:p.Pro136Leu	Somatic	0	59	0		0.52429534266604	31	6.06	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	73	32.41	A8K7C9|B4DT58	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.P136L	ENST00000528416.1	37	c.407	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235291	0.39498	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.90676	-2.49;-2.71;-2.46	5.31	5.31	0.75309	.	0.000000	0.37437	N	0.002095	D	0.86268	0.5892	L	0.39898	1.24	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.81258	-0.1014	10	0.20046	T	0.44	-13.9141	16.4845	0.84181	0.0:1.0:0.0:0.0	.	136;136	B4DT58;Q92785	.;REQU_HUMAN	L	136	ENSP00000436901:P136L;ENSP00000399714:P136L;ENSP00000252268:P136L	ENSP00000252268:P136L	P	+	2	0	DPF2	64865551	0.879000	0.30193	1.000000	0.80357	0.960000	0.62799	3.315000	0.51951	2.507000	0.84556	0.467000	0.42956	CCC	-	NULL		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	protein_coding	OTTHUMT00000387293.3	C	NM_006268	-		65108975	1	no_errors	ENST00000528416	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65108975	C	T	65108975	3	4	196	1	0	0	0	0	1	0	0	0	4719	623	22	2	421	2	DPF2	11	65108975	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	169559	65108975	69897541	1407	14679	307	2									
DPF2	5977	genome.wustl.edu	37	chr11	65108977	65108977	+	Nonsense_Mutation	SNP	C	C	T													agcgaggtgccccggatcccCgagttgatgatgacagcctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65108977C>T	ENST00000528416.1	+	4	542	c.409C>T	c.(409-411)Cga>Tga	p.R137*	DPF2_ENST00000415073.2_Nonsense_Mutation_p.R137*|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Nonsense_Mutation_p.R137*	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	137					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCCGGATCCCCGAGTTGATGA	0.562																																																	0								ENSG00000133884						87	78	81					11																	65108977		2201	4297	6498	DPF2	SO:0001587	stop_gained	0			-	HGNC	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.409C>T	11.37:g.65108977C>T	ENSP00000436901:p.Arg137*	Somatic	0	61	0		0.52429534266604	35	5.41	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	74	32.73	A8K7C9|B4DT58	Nonsense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.R137*	ENST00000528416.1	37	c.409	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.130762	0.97310	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	.	.	.	5.31	4.38	0.52667	.	0.269275	0.19876	N	0.104088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-4.6481	12.8962	0.58101	0.1639:0.8361:0.0:0.0	.	.	.	.	X	137	.	ENSP00000252268:R137X	R	+	1	2	DPF2	64865553	0.985000	0.35326	1.000000	0.80357	0.967000	0.64934	3.188000	0.50958	1.214000	0.43395	0.467000	0.42956	CGA	-	NULL		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	protein_coding	OTTHUMT00000387293.3	C	NM_006268	-		65108977	1	no_errors	ENST00000528416	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	65108977	C	T	65108977	4	4	196	1	0	0	0	0	0	1	0	0	4719	644	23	1	423	1	DPF2	11	65108977	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	65108977	69897539	1408	14680	307	2									
KCNK7	10089	genome.wustl.edu	37	chr11	65363171	65363171	+	Missense_Mutation	SNP	C	C	T													cagggcctggaacaccacagCcccaagccccagggccagca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65363171C>T	ENST00000340313.4	-	1	296	c.73G>A	c.(73-75)Gct>Act	p.A25T	KCNK7_ENST00000394216.2_Missense_Mutation_p.A25T|KCNK7_ENST00000394217.2_Missense_Mutation_p.A25T|KCNK7_ENST00000342202.4_Missense_Mutation_p.A25T	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	25					potassium ion transport (GO:0006813)|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)			endometrium(1)|liver(1)|lung(1)	3						AACACCACAGCCCCAAGCCCC	0.677																																																	0								ENSG00000173338						12	15	14					11																	65363171		2184	4287	6471	KCNK7	SO:0001583	missense	0			-	HGNC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.73G>A	11.37:g.65363171C>T	ENSP00000344820:p.Ala25Thr	Somatic	0	9	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP							pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK	p.A25T	ENST00000340313.4	37	c.73	CCDS31608.1	11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210892	0.79240	.	.	ENSG00000173338	ENST00000342202;ENST00000394217;ENST00000394216;ENST00000340313	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.98	4.98	0.66077	.	0.000000	0.50627	D	0.000112	T	0.56645	0.1999	M	0.76002	2.32	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	16.1123	0.81271	0.0:1.0:0.0:0.0	.	25;25;25	Q9Y2U2-3;Q9Y2U2;Q9Y2U2-2	.;KCNK7_HUMAN;.	T	25	ENSP00000343923:A25T;ENSP00000377765:A25T;ENSP00000377764:A25T;ENSP00000344820:A25T	ENSP00000344820:A25T	A	-	1	0	KCNK7	65119747	1.000000	0.71417	0.964000	0.40570	0.255000	0.26057	2.201000	0.42734	2.470000	0.83445	0.655000	0.94253	GCT	-	pirsf_2pore_dom_K_chnl_TASK		0.677	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK7	protein_coding	OTTHUMT00000390206.1	C	NM_005714	-		65363171	-1	no_errors	ENST00000340313	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65363171	C	T	65363171	3	4	196	1	0	0	0	0	1	0	0	0	8073	739	26	2	963	2	KCNK7	11	65363171	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	254194	65363171	69643345	1409	14681	308	2									
KCNK7	10089	genome.wustl.edu	37	chr11	65363172	65363172	+	Silent	SNP	C	C	T													agggcctggaacaccacagcCccaagccccagggccagcaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65363172C>T	ENST00000340313.4	-	1	295	c.72G>A	c.(70-72)ggG>ggA	p.G24G	KCNK7_ENST00000394216.2_Silent_p.G24G|KCNK7_ENST00000394217.2_Silent_p.G24G|KCNK7_ENST00000342202.4_Silent_p.G24G	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	24					potassium ion transport (GO:0006813)|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)			endometrium(1)|liver(1)|lung(1)	3						ACACCACAGCCCCAAGCCCCA	0.682																																																	0								ENSG00000173338						11	15	14					11																	65363172		2182	4286	6468	KCNK7	SO:0001819	synonymous_variant	0			-	HGNC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.72G>A	11.37:g.65363172C>T		Somatic	0	9	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	9	52.63	Q3SYI2|Q9Y2U3|Q9Y2U4	Silent	SNP							pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK	p.G24	ENST00000340313.4	37	c.72	CCDS31608.1	11																																																																																			-	pirsf_2pore_dom_K_chnl_TASK		0.682	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK7	protein_coding	OTTHUMT00000390206.1	C	NM_005714	-		65363172	-1	no_errors	ENST00000340313	ensembl	human	known	74_37	silent	SNP	1.000	T	T	65363172	C	T	65363172	2	4	196	1	0	0	0	0	0	0	0	1	8073	610	22	2		2	KCNK7	11	65363172	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	65363172	69643344	1410	14682	308	2									
MAP3K11	399909	genome.wustl.edu	37	chr11	65381110	65381110	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaccgggttggcataacCcgctgcctttggagacccct	10	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65381110C>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.G40S|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TTGGCATAACCCGCTGCCTTT	0.662																																																	0								ENSG00000173327						49	44	45					11																	65381110		2201	4297	6498	MAP3K11	SO:0001631	upstream_gene_variant	0			-	HGNC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65381110C>T	Exception_encountered	Somatic	0	21	0		0.52429534266604	31	22.5	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	Q6MZN8	Missense_Mutation	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G40S	ENST00000355703.3	37	c.118	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457776	0.26161	.	.	ENSG00000173327	ENST00000309100	T	0.73047	-0.71	4.33	3.4	0.38934	Src homology-3 domain (1);	.	.	.	.	T	0.47507	0.1449	N	0.08118	0	0.26352	N	0.97719	B	0.06786	0.001	B	0.06405	0.002	T	0.25916	-1.0118	9	0.15066	T	0.55	.	10.2482	0.43354	0.0:0.7985:0.2015:0.0	.	40	Q16584	M3K11_HUMAN	S	40	ENSP00000309597:G40S	ENSP00000309597:G40S	G	-	1	0	MAP3K11	65137686	0.997000	0.39634	0.570000	0.28473	0.484000	0.33280	3.900000	0.56295	1.154000	0.42482	0.591000	0.81541	GGT	-	pirsf_MAPKKK9/10/11,superfamily_SH3_domain		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	protein_coding	OTTHUMT00000390321.1	C	NM_032223	-		65381110	-1	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	SNP	0.206	T	T	65381110	C	T	65381110	1	4	196	0	1	0	0	0	0	0	0	0	9247	623	22	2		2	MAP3K11	11	65381110	5'Flank	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	17938	65381110	69625406	1411	14683											
PCNXL3	399909	genome.wustl.edu	37	chr11	65401773	65401773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcctctcgctgccctcCttttgtgctgtgcacctcga	9	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65401773C>T	ENST00000355703.3	+	28	5186	c.4647C>T	c.(4645-4647)tcC>tcT	p.S1549S	PCNXL3_ENST00000531280.1_3'UTR|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1549						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCTGCCCTCCTTTTGTGCTG	0.657																																																	0								ENSG00000197136						29	36	33					11																	65401773		2148	4253	6401	PCNXL3	SO:0001819	synonymous_variant	0			-	HGNC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4647C>T	11.37:g.65401773C>T		Somatic	0	17	0		0.52429534266604	43	33.85	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	Q6MZN8	Silent	SNP							pfam_Pecanex	p.S1549	ENST00000355703.3	37	c.4647	CCDS44650.1	11																																																																																			-	NULL		0.657	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	protein_coding	OTTHUMT00000390321.1	C	NM_032223	-		65401773	1	no_errors	ENST00000355703	ensembl	human	known	74_37	silent	SNP	1.000	T	T	65401773	C	T	65401773	2	4	196	1	0	0	0	0	0	0	0	1	11595	668	24	2		2	PCNXL3	11	65401773	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	20663	65401773	69604743	1412	14684											
SF3B2	10992	genome.wustl.edu	37	chr11	65826321	65826321	+	Silent	SNP	C	C	T													aaaaaccggaagcgtaggaaCcgaaagaagaagaaaaagcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65826321C>T	ENST00000322535.6	+	10	1036	c.987C>T	c.(985-987)aaC>aaT	p.N329N	SF3B2_ENST00000528302.1_Silent_p.N312N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	329					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGCGTAGGAACCGAAAGAAGA	0.582																																																	0								ENSG00000087365						34	40	38					11																	65826321		2201	4294	6495	SF3B2	SO:0001819	synonymous_variant	0			-	HGNC	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.987C>T	11.37:g.65826321C>T		Somatic	0	67	0		0.52429534266604	226	3	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	74	36.21	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP							pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.N329	ENST00000322535.6	37	c.987	CCDS31612.1	11																																																																																			-	NULL		0.582	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	protein_coding	OTTHUMT00000391352.2	C		-		65826321	1	no_errors	ENST00000322535	ensembl	human	known	74_37	silent	SNP	1.000	T	T	65826321	C	T	65826321	2	4	196	1	0	0	0	0	0	0	0	1	14159	506	18	2		2	SF3B2	11	65826321	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	424548	65826321	69180195	1413	14685	309	2									
SF3B2	10992	genome.wustl.edu	37	chr11	65826322	65826322	+	Nonsense_Mutation	SNP	C	C	T													aaaaccggaagcgtaggaacCgaaagaagaagaaaaagccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65826322C>T	ENST00000322535.6	+	10	1037	c.988C>T	c.(988-990)Cga>Tga	p.R330*	SF3B2_ENST00000528302.1_Nonsense_Mutation_p.R313*	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	330					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCGTAGGAACCGAAAGAAGAA	0.587																																																	0								ENSG00000087365						34	40	38					11																	65826322		2201	4294	6495	SF3B2	SO:0001587	stop_gained	0			-	HGNC	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.988C>T	11.37:g.65826322C>T	ENSP00000318861:p.Arg330*	Somatic	0	64	0		0.52429534266604	243	2.41	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	74	36.21	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Nonsense_Mutation	SNP							pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.R330*	ENST00000322535.6	37	c.988	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917140	0.92249	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000355456;ENST00000530322	.	.	.	5.36	5.36	0.76844	.	0.205164	0.40640	N	0.001057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8516	16.5684	0.84604	0.0:1.0:0.0:0.0	.	.	.	.	X	313;330;328;234;324	.	ENSP00000318861:R330X	R	+	1	2	SF3B2	65582898	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	2.361000	0.44160	2.524000	0.85096	0.561000	0.74099	CGA	-	NULL		0.587	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	protein_coding	OTTHUMT00000391352.2	C		-		65826322	1	no_errors	ENST00000322535	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	65826322	C	T	65826322	4	4	196	1	0	0	0	0	0	1	0	0	14159	644	23	1	1026	1	SF3B2	11	65826322	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	65826322	69180194	1414	14686	309	2									
YIF1A	10897	genome.wustl.edu	37	chr11	66055073	66055073	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caggttggagactcactgggGatatagaggtcaggggcgtt	17	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:66055073G>C	ENST00000376901.4	-	4	607	c.423C>G	c.(421-423)atC>atG	p.I141M	YIF1A_ENST00000359461.6_Missense_Mutation_p.I141M|YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000471387.2_De_novo_Start_InFrame|YIF1A_ENST00000496746.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	141					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						ACTCACTGGGGATATAGAGGT	0.632																																																	0								ENSG00000174851						23	24	24					11																	66055073		2200	4294	6494	YIF1A	SO:0001583	missense	0			-	HGNC	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.423C>G	11.37:g.66055073G>C	ENSP00000366098:p.Ile141Met	Somatic	0	69	0		0.52429534266604	535	45.97	456	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	65	35.64	A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP							pfam_Hrf1,pfam_Yip1	p.I141M	ENST00000376901.4	37	c.423	CCDS8132.1	11	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931838	0.52866	.	.	ENSG00000174851	ENST00000359461;ENST00000376901;ENST00000376904;ENST00000431556;ENST00000528575	T;T;T;T	0.67523	-0.15;-0.04;-0.16;-0.27	4.67	1.77	0.24775	.	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81302	-0.0994	10	0.59425	D	0.04	-0.0095	7.0347	0.24987	0.3766:0.0:0.6234:0.0	.	141;141	E9PIZ0;O95070	.;YIF1A_HUMAN	M	141;141;145;141;141	ENSP00000352437:I141M;ENSP00000366098:I141M;ENSP00000401953:I141M;ENSP00000431935:I141M	ENSP00000352437:I141M	I	-	3	3	YIF1A	65811649	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.217000	0.17603	0.169000	0.19679	0.462000	0.41574	ATC	-	pfam_Hrf1,pfam_Yip1		0.632	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	protein_coding	OTTHUMT00000219903.3	G	NM_020470	-		66055073	-1	no_errors	ENST00000376901	ensembl	human	known	74_37	missense	SNP	1.000	C	C	66055073	G	C	66055073	3	2	196	1	0	0	0	0	1	0	0	0	17482	1164	41	4	478	4	YIF1A	11	66055073	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	228751	66055073	68951443	1415	14687											
PELI3	246330	genome.wustl.edu	37	chr11	66243577	66243577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcctgccccttttgcgGggcctggcttaccggcgagc	14	16	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:66243577G>A	ENST00000320740.7	+	8	1509	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E	PELI3_ENST00000349459.6_Missense_Mutation_p.G426E|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	450					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CCCTTTTGCGGGGCCTGGCTT	0.682																																																	0								ENSG00000174516						12	11	12					11																	66243577		2180	4261	6441	PELI3	SO:0001583	missense	0			-	HGNC	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1349G>A	11.37:g.66243577G>A	ENSP00000322532:p.Gly450Glu	Somatic	0	22	0		0.52429534266604	14	51.72	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	42.31	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP							pfam_Pellino_fam	p.G450E	ENST00000320740.7	37	c.1349	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790441	0.50102	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.41400	1.0;1.0	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	N	0.22421	0.69	0.80722	D	1	P;P	0.47191	0.696;0.891	B;P	0.52424	0.358;0.698	T	0.33954	-0.9848	10	0.87932	D	0	-21.7464	10.7072	0.45962	0.0:0.1933:0.8067:0.0	.	426;450	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	E	426;450	ENSP00000309848:G426E;ENSP00000322532:G450E	ENSP00000322532:G450E	G	+	2	0	PELI3	66000153	0.684000	0.27642	1.000000	0.80357	0.975000	0.68041	0.890000	0.28295	2.368000	0.80403	0.655000	0.94253	GGG	-	pfam_Pellino_fam		0.682	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	protein_coding	OTTHUMT00000393226.1	G	NM_145065	-		66243577	1	no_errors	ENST00000320740	ensembl	human	known	74_37	missense	SNP	0.998	A	A	66243577	G	A	66243577	3	1	196	1	0	0	0	0	1	0	0	0	11725	1232	43	2	1375	2	PELI3	11	66243577	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	188504	66243577	68762939	1416	14688											
ANKRD13D	338692	genome.wustl.edu	37	chr11	67059201	67059201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcggggccggaggagcttCatcttcaagggccagggtga	17	10	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67059201C>T	ENST00000447274.2	+	5	1439	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ANKRD13D_ENST00000511455.2_Silent_p.F175F|ANKRD13D_ENST00000308440.6_Silent_p.F88F|ANKRD13D_ENST00000514166.1_Silent_p.F88F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	88						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAGGAGCTTCATCTTCAAGG	0.622																																																	0								ENSG00000172932						57	54	55					11																	67059201		2200	4295	6495	ANKRD13D	SO:0001819	synonymous_variant	0			-	HGNC	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.264C>T	11.37:g.67059201C>T		Somatic	0	40	0		0.52429534266604	54	32.5	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP							pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.F175	ENST00000447274.2	37	c.525		11																																																																																			-	pfam_ANKRD13		0.622	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	protein_coding	OTTHUMT00000371067.2	C	NM_207354	-		67059201	1	no_errors	ENST00000511455	ensembl	human	known	74_37	silent	SNP	1.000	T	T	67059201	C	T	67059201	2	4	196	1	0	0	0	0	0	0	0	1	644	825	29	2		2	ANKRD13D	11	67059201	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	815624	67059201	67947315	1417	14689											
UNC93B1	81622	genome.wustl.edu	37	chr11	67766694	67766694	+	Silent	SNP	G	G	A													accaggagatagggcgcgtgGgagccccgcggaggccgctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67766694G>A	ENST00000227471.2	-	5	715	c.636C>T	c.(634-636)tcC>tcT	p.S212S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											AGGGCGCGTGGGAGCCCCGCG	0.602																																																	0								ENSG00000110057						64	74	71					11																	67766694		2033	4184	6217	UNC93B1	SO:0001819	synonymous_variant	0			-	HGNC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.636C>T	11.37:g.67766694G>A		Somatic	0	42	0		0.52429534266604	150	9.09	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.40	O95764|Q569H6|Q710D4	Silent	SNP							pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.S212	ENST00000227471.2	37	c.636		11																																																																																			-	NULL		0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		G	NM_030930	-		67766694	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	silent	SNP	1.000	A	A	67766694	G	A	67766694	2	1	196	1	0	0	0	0	0	0	0	1	17004	1219	43	2		2	UNC93B1	11	67766694	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	707493	67766694	67239822	1418	14690	310	2									
UNC93B1	81622	genome.wustl.edu	37	chr11	67766695	67766695	+	Missense_Mutation	SNP	G	G	A													ccaggagatagggcgcgtggGagccccgcggaggccgctgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67766695G>A	ENST00000227471.2	-	5	714	c.635C>T	c.(634-636)tCc>tTc	p.S212F	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GGGCGCGTGGGAGCCCCGCGG	0.602																																																	0								ENSG00000110057						63	73	70					11																	67766695		2031	4183	6214	UNC93B1	SO:0001583	missense	0			-	HGNC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.635C>T	11.37:g.67766695G>A	ENSP00000227471:p.Ser212Phe	Somatic	0	42	0		0.52429534266604	150	9.04	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	O95764|Q569H6|Q710D4	Missense_Mutation	SNP							pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.S212F	ENST00000227471.2	37	c.635		11	.	.	.	.	.	.	.	.	.	.	.	14.55	2.568766	0.45798	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.07688	3.17;3.17	4.18	4.18	0.49190	.	0.106321	0.64402	D	0.000005	T	0.08358	0.0208	.	.	.	0.32001	N	0.603318	B	0.06786	0.001	B	0.04013	0.001	T	0.03259	-1.1055	9	0.41790	T	0.15	-28.655	15.5951	0.76572	0.0:0.0:1.0:0.0	.	212	Q9H1C4	UN93B_HUMAN	F	212;141	ENSP00000227471:S212F;ENSP00000437195:S141F	ENSP00000227471:S212F	S	-	2	0	UNC93B1	67523271	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	8.380000	0.90149	2.316000	0.78162	0.561000	0.74099	TCC	-	NULL		0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		G	NM_030930	-		67766695	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67766695	G	A	67766695	3	1	196	1	0	0	0	0	1	0	0	0	17004	1174	41	2	1185	2	UNC93B1	11	67766695	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	67766695	67239821	1419	14691	310	2									
SAPS3	55291	genome.wustl.edu	37	chr11	68367956	68367956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttcagagttcacgtcttCcctgaggtgagcgaacatgt	10	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:68367956C>T	ENST00000393800.2	+	20	2440	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	PPP6R3_ENST00000393799.2_Missense_Mutation_p.S729F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S694F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S729F|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S497F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S649F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S683F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S649F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S700F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S723F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	729					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCACGTCTTCCCTGAGGTGA	0.532																																																	0								ENSG00000110075						125	106	112					11																	68367956		2200	4294	6494	PPP6R3	SO:0001583	missense	0			-	HGNC	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2186C>T	11.37:g.68367956C>T	ENSP00000377389:p.Ser729Phe	Somatic	0	51	0		0.52429534266604	6	45.45	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	45	34.78	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP							pfam_SAPS,superfamily_ARM-type_fold	p.S729F	ENST00000393800.2	37	c.2186	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716196	0.30413	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.56	5.56	0.83823	.	0.465647	0.21783	N	0.069169	T	0.44286	0.1286	N	0.14661	0.345	0.22081	N	0.999376	P;P;B;B;B;B;P;B	0.47409	0.895;0.454;0.001;0.001;0.001;0.0;0.852;0.001	P;B;B;B;B;B;P;B	0.53102	0.547;0.259;0.004;0.002;0.004;0.002;0.718;0.004	T	0.37842	-0.9688	10	0.39692	T	0.17	.	14.408	0.67096	0.1474:0.8526:0.0:0.0	.	412;497;649;700;723;729;729;649	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	F	729;729;497;700;683;723;729;649;649;694;436	ENSP00000377388:S729F;ENSP00000377389:S729F;ENSP00000434429:S497F;ENSP00000431415:S700F;ENSP00000265637:S683F;ENSP00000433058:S723F;ENSP00000377390:S729F;ENSP00000265636:S649F;ENSP00000437329:S649F;ENSP00000433565:S694F;ENSP00000436209:S436F	ENSP00000265636:S649F	S	+	2	0	PPP6R3	68124532	0.861000	0.29849	0.952000	0.39060	0.683000	0.39861	2.912000	0.48782	2.617000	0.88574	0.655000	0.94253	TCC	-	NULL		0.532	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	protein_coding	OTTHUMT00000395275.1	C	NM_018312	-		68367956	1	no_errors	ENST00000393799	ensembl	human	known	74_37	missense	SNP	0.320	T	T	68367956	C	T	68367956	3	4	196	1	0	0	0	0	1	0	0	0	13846	855	30	2	2256	2	SAPS3	11	68367956	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	601261	68367956	66638560	1420	14692											
FOLR3	2352	genome.wustl.edu	37	chr11	71850435	71850435	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcattctgaacgtgcccctGtgcaaagaggactgtgagcg	13	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:71850435G>T	ENST00000445078.2	+	4	593	c.522G>T	c.(520-522)ctG>ctT	p.L174L	FOLR3_ENST00000456237.1_Silent_p.L176L|FOLR3_ENST00000442948.2_Silent_p.L133L			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	132					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACGTGCCCCTGTGCAAAGAGG	0.567																																																	0								ENSG00000110203						25	24	25					11																	71850435		2199	4289	6488	FOLR3	SO:0001819	synonymous_variant	0			-	HGNC	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.522G>T	11.37:g.71850435G>T		Somatic	0	82	0		0.52429534266604	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	61	34.41	J3KQ90|Q05C14	Silent	SNP							pfam_Folate_rcpt-like	p.L176	ENST00000445078.2	37	c.528		11																																																																																			-	pfam_Folate_rcpt-like		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	protein_coding	OTTHUMT00000396739.1	G	NM_000804	-		71850435	1	no_errors	ENST00000456237	ensembl	human	known	74_37	silent	SNP	1.000	T	T	71850435	G	T	71850435	2	4	196	1	0	0	0	0	0	0	0	1	5985	1364	48	3		3	FOLR3	11	71850435	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3482479	71850435	63156081	1421	14693											
FCHSD2	9873	genome.wustl.edu	37	chr11	72553810	72553810	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttctttgttcaagatacgGattattgctccctcaggaaa	7	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:72553810G>A	ENST00000409418.4	-	17	2165	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000458644.2_Silent_p.I458I|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000311172.7_Silent_p.I538I|FCHSD2_ENST00000409314.1_Silent_p.I618I	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	594	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCAAGATACGGATTATTGCTC	0.408																																																	0								ENSG00000137478						124	123	123					11																	72553810		2200	4293	6493	FCHSD2	SO:0001819	synonymous_variant	0			-	HGNC	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1782C>T	11.37:g.72553810G>A		Somatic	0	94	0		0.52429534266604	24	35.14	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	79	25.93	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP							pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.I594	ENST00000409418.4	37	c.1782	CCDS8218.2	11																																																																																			-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.408	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	protein_coding	OTTHUMT00000329429.2	G	NM_014824	-		72553810	-1	no_errors	ENST00000409418	ensembl	human	known	74_37	silent	SNP	0.997	A	A	72553810	G	A	72553810	2	1	196	1	0	0	0	0	0	0	0	1	5792	1164	41	2		2	FCHSD2	11	72553810	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	703375	72553810	62452706	1422	14694											
UCP3	7352	genome.wustl.edu	37	chr11	73717404	73717404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagccgggccgtctggacCgcctggttctccccctggat	13	16	2	0	rs201580635		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:73717404C>T	ENST00000314032.4	-	3	699	c.147G>A	c.(145-147)gcG>gcA	p.A49A	UCP3_ENST00000426995.2_Silent_p.A49A|UCP3_ENST00000348534.4_Silent_p.A49A	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	49					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CCGTCTGGACCGCCTGGTTCT	0.657																																																	0								ENSG00000175564						16	17	16					11																	73717404		2200	4289	6489	UCP3	SO:0001819	synonymous_variant	0			-	HGNC	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.147G>A	11.37:g.73717404C>T		Somatic	0	24	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67	O60475|Q96HL3	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.A49	ENST00000314032.4	37	c.147	CCDS8229.1	11																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.657	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	protein_coding	OTTHUMT00000398200.1	C	NM_003356	rs201580635		73717404	-1	no_errors	ENST00000314032	ensembl	human	known	74_37	silent	SNP	0.000	T	T	73717404	C	T	73717404	2	4	196	1	0	0	0	0	0	0	0	1	16939	639	23	1		1	UCP3	11	73717404	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1163594	73717404	61289112	1423	14695											
NEU3	10825	genome.wustl.edu	37	chr11	74716821	74716821	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggttcttttgcttcCagctaccatgtaaaaccagg	7	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:74716821C>T	ENST00000544263.1	+	4	741	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	NEU3_ENST00000294064.4_Nonsense_Mutation_p.Q224*|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000531509.1_Nonsense_Mutation_p.Q224*|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Q115*			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	191					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTTTTGCTTCCAGCTACCATG	0.512																																																	0								ENSG00000162139						115	111	112					11																	74716821		2000	4178	6178	NEU3	SO:0001587	stop_gained	0			-	HGNC	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.571C>T	11.37:g.74716821C>T	ENSP00000445591:p.Gln191*	Somatic	0	37	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	A8K327|Q9NQE1	Nonsense_Mutation	SNP							superfamily_Sialidases	p.Q224*	ENST00000544263.1	37	c.670		11	.	.	.	.	.	.	.	.	.	.	C	7.256	0.604191	0.14002	.	.	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	.	.	.	5.04	-2.0	0.07433	.	0.918753	0.09237	N	0.829742	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-0.1298	1.1147	0.01711	0.2511:0.3797:0.124:0.2452	.	.	.	.	X	224;224;191;115	.	ENSP00000294064:Q224X	Q	+	1	0	NEU3	74394469	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.431000	0.06965	-0.195000	0.10382	-0.274000	0.10170	CAG	-	superfamily_Sialidases		0.512	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	NEU3	protein_coding		C	NM_006656	-		74716821	1	no_errors	ENST00000294064	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	74716821	C	T	74716821	4	4	196	1	0	0	0	0	0	1	0	0	10345	595	21	2	680	2	NEU3	11	74716821	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	999417	74716821	60289695	1424	14696											
USP35	57558	genome.wustl.edu	37	chr11	77921522	77921522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgagggcgctgcccgccCtgccgcttctctgggaactg	14	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:77921522C>A	ENST00000529308.1	+	10	2882	c.2621C>A	c.(2620-2622)cCt>cAt	p.P874H	USP35_ENST00000530267.1_Missense_Mutation_p.P442H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.P460H|USP35_ENST00000526425.1_Missense_Mutation_p.P605H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	874	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCTGCCCGCCCTGCCGCTTCT	0.597																																																	0								ENSG00000118369						113	119	117					11																	77921522		1970	4140	6110	USP35	SO:0001583	missense	0			-	HGNC	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2621C>A	11.37:g.77921522C>A	ENSP00000431876:p.Pro874His	Somatic	0	28	0		0.52429534266604	19	17.39	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.15		Missense_Mutation	SNP							pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.P874H	ENST00000529308.1	37	c.2621	CCDS41693.1	11	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326796	0.41197	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.14144	3.09;3.32;2.53;3.21	4.8	2.95	0.34219	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.793696	0.10571	N	0.659150	T	0.20901	0.0503	L	0.42245	1.32	0.09310	N	1	D;D	0.63046	0.966;0.992	P;P	0.60117	0.754;0.869	T	0.15009	-1.0452	10	0.48119	T	0.1	-15.199	3.076	0.06247	0.3114:0.4145:0.0:0.2741	.	874;460	Q9P2H5;E7EWV7	UBP35_HUMAN;.	H	442;874;460;605	ENSP00000435468:P442H;ENSP00000431876:P874H;ENSP00000400825:P460H;ENSP00000434942:P605H	ENSP00000400825:P460H	P	+	2	0	USP35	77599170	.	.	0.345000	0.25642	0.761000	0.43186	.	.	0.641000	0.30601	0.491000	0.48974	CCT	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.597	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	protein_coding	OTTHUMT00000390026.1	C	XM_290527	-		77921522	1	no_errors	ENST00000529308	ensembl	human	known	74_37	missense	SNP	0.000	A	A	77921522	C	A	77921522	3	1	196	1	0	0	0	0	1	0	0	0	17073	681	24	3	2655	3	USP35	11	77921522	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3204701	77921522	57084994	1425	14697											
C11orf82	220042	genome.wustl.edu	37	chr11	82643941	82643941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacaaagtagaggctgtcTctgtaaatcataatggaaga	9	5	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82643941T>C	ENST00000533655.1	+	6	1773	c.1561T>C	c.(1561-1563)Tct>Cct	p.S521P	C11orf82_ENST00000430323.2_Missense_Mutation_p.S521P|C11orf82_ENST00000329143.3_Missense_Mutation_p.S220P|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		521					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGAGGCTGTCTCTGTAAATCA	0.353																																																	0								ENSG00000165490						29	27	28					11																	82643941		2203	4300	6503	C11orf82	SO:0001583	missense	0			-	HGNC																												ENST00000533655.1:c.1561T>C	11.37:g.82643941T>C	ENSP00000435421:p.Ser521Pro	Somatic	0	76	0		0.52429534266604	0	100	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	46	32.35	Q96LK6|Q9H856	Missense_Mutation	SNP							pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold	p.S521P	ENST00000533655.1	37	c.1561	CCDS8263.1	11	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270284	0.23221	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.23147	2.23;2.23;1.92	5.82	2.19	0.27852	.	0.258162	0.32055	N	0.006653	T	0.19005	0.0456	L	0.59436	1.845	0.09310	N	1	B	0.31680	0.335	B	0.31016	0.123	T	0.15235	-1.0444	9	.	.	.	.	1.801	0.03071	0.149:0.1267:0.1547:0.5696	.	521	Q8IXT1	NOXIN_HUMAN	P	521;521;220	ENSP00000414687:S521P;ENSP00000435421:S521P;ENSP00000329930:S220P	.	S	+	1	0	C11orf82	82321589	0.010000	0.17322	0.040000	0.18447	0.108000	0.19459	1.463000	0.35277	0.437000	0.26423	-0.333000	0.08304	TCT	-	NULL		0.353	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	protein_coding	OTTHUMT00000391936.1	T		-		82643941	1	no_errors	ENST00000430323	ensembl	human	known	74_37	missense	SNP	0.001	C	C	82643941	T	C	82643941	3	2	196	1	0	0	0	0	1	0	0	0	1667	1551	54	5	1575	5	C11orf82	11	82643941	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	4722419	82643941	52362575	1426	14698											
PCF11	51585	genome.wustl.edu	37	chr11	82880096	82880096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggacttagatttgataatCcccgaggtcagcctgtaggt	12	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82880096C>T	ENST00000298281.4	+	8	3171	c.2719C>T	c.(2719-2721)Ccc>Tcc	p.P907S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	907	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTTGATAATCCCCGAGGTCA	0.552																																																	0								ENSG00000165494						52	53	53					11																	82880096		1950	4129	6079	PCF11	SO:0001583	missense	0			-	HGNC	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2719C>T	11.37:g.82880096C>T	ENSP00000298281:p.Pro907Ser	Somatic	0	63	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP							pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.P907S	ENST00000298281.4	37	c.2719	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882942	0.33255	.	.	ENSG00000165494	ENST00000298281	T	0.21031	2.03	6.07	5.11	0.69529	.	0.106753	0.42682	D	0.000676	T	0.19248	0.0462	L	0.54323	1.7	0.38667	D	0.952227	B	0.34103	0.437	B	0.30401	0.115	T	0.03077	-1.1075	9	.	.	.	-6.0184	11.1422	0.48408	0.0:0.8016:0.1299:0.0686	.	907	O94913	PCF11_HUMAN	S	907	ENSP00000298281:P907S	.	P	+	1	0	PCF11	82557744	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.969000	0.40510	2.885000	0.99019	0.655000	0.94253	CCC	-	NULL		0.552	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	protein_coding	OTTHUMT00000392548.2	C	NM_015885	-		82880096	1	no_errors	ENST00000298281	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82880096	C	T	82880096	3	4	196	1	0	0	0	0	1	0	0	0	11575	855	30	2	2749	2	PCF11	11	82880096	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	236155	82880096	52126420	1427	14699											
ANKRD42	338699	genome.wustl.edu	37	chr11	82909572	82909572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatgatgcagtacgagctgGagatgtaaagcagctttcag	12	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82909572G>A	ENST00000393392.2	+	2	272	c.110G>A	c.(109-111)gGa>gAa	p.G37E	ANKRD42_ENST00000393389.3_Missense_Mutation_p.G37E|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G37E|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G37E|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G37E|ANKRD42_ENST00000528722.1_5'UTR|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G37E	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	37					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTACGAGCTGGAGATGTAAAG	0.388																																																	0								ENSG00000137494						127	112	117					11																	82909572		2203	4300	6503	ANKRD42	SO:0001583	missense	0			-	HGNC	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.110G>A	11.37:g.82909572G>A	ENSP00000377051:p.Gly37Glu	Somatic	0	66	0		0.52429534266604	7	30	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	66	31.25	Q49A49	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G37E	ENST00000393392.2	37	c.110	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052441	0.75960	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.72835	0.0;1.86;0.0;1.86;-0.65;-0.69	5.97	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.095117	0.46442	D	0.000284	D	0.85741	0.5767	M	0.86268	2.805	0.40670	D	0.982207	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.998;0.998;0.998;1.0	D	0.88191	0.2877	9	.	.	.	-8.9551	16.8395	0.85964	0.0:0.1288:0.8712:0.0	.	37;37;302;128;37	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	E	356;37;37;37;37;37;37	ENSP00000377049:G37E;ENSP00000260047:G37E;ENSP00000433585:G37E;ENSP00000434666:G37E;ENSP00000377051:G37E;ENSP00000435790:G37E	.	G	+	2	0	ANKRD42	82587220	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.580000	0.74040	1.513000	0.48852	0.655000	0.94253	GGA	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.388	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	protein_coding	OTTHUMT00000392934.1	G	NM_182603	-		82909572	1	no_errors	ENST00000393392	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82909572	G	A	82909572	3	1	196	1	0	0	0	0	1	0	0	0	670	1174	41	2	116	2	ANKRD42	11	82909572	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	29476	82909572	52096944	1428	14700											
GRM5	2915	genome.wustl.edu	37	chr11	88330491	88330491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataatcaaagtaatcttttCccatttccttgaaattcatt	2	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:88330491C>T	ENST00000305447.4	-	5	1573	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	GRM5_ENST00000393297.1_Missense_Mutation_p.G475E|GRM5_ENST00000418177.2_Missense_Mutation_p.G475E|GRM5_ENST00000305432.5_Missense_Mutation_p.G475E|GRM5_ENST00000455756.2_Missense_Mutation_p.G475E	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	475					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GTAATCTTTTCCCATTTCCTT	0.303																																																	0								ENSG00000168959						114	101	105					11																	88330491		2201	4299	6500	GRM5	SO:0001583	missense	0			-	HGNC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1424G>A	11.37:g.88330491C>T	ENSP00000306138:p.Gly475Glu	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	Q6J164	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.G475E	ENST00000305447.4	37	c.1424	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944937	0.73672	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.4	5.4	0.78164	.	0.049648	0.85682	D	0.000000	D	0.87748	0.6255	L	0.29908	0.895	0.58432	D	0.999997	D;B	0.58268	0.982;0.137	P;B	0.56042	0.79;0.067	D	0.86335	0.1701	9	.	.	.	.	19.1637	0.93544	0.0:1.0:0.0:0.0	.	475;475	P41594-2;P41594	.;GRM5_HUMAN	E	475	ENSP00000402912:G475E;ENSP00000405690:G475E;ENSP00000305905:G475E;ENSP00000306138:G475E;ENSP00000376975:G475E	.	G	-	2	0	GRM5	87970139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.687000	0.61708	2.539000	0.85634	0.650000	0.86243	GGA	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1		0.303	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	protein_coding	OTTHUMT00000259226.1	C	NM_000842	-		88330491	-1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88330491	C	T	88330491	3	4	196	1	0	0	0	0	1	0	0	0	6802	855	30	2	2234	2	GRM5	11	88330491	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5420919	88330491	46676025	1429	14701											
GRM5	2915	genome.wustl.edu	37	chr11	88780694	88780694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcttctgaagaaatgaggGaatctcttatgaactcaatg	8	8	4	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:88780694G>A	ENST00000305447.4	-	1	496	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GRM5_ENST00000393294.3_Missense_Mutation_p.S116F|GRM5_ENST00000393297.1_Missense_Mutation_p.S116F|GRM5_ENST00000418177.2_Missense_Mutation_p.S116F|GRM5_ENST00000305432.5_Missense_Mutation_p.S116F|GRM5_ENST00000455756.2_Missense_Mutation_p.S116F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	116					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGAAATGAGGGAATCTCTTAT	0.537																																																	0								ENSG00000168959						76	66	70					11																	88780694		2201	4299	6500	GRM5	SO:0001583	missense	0			-	HGNC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.347C>T	11.37:g.88780694G>A	ENSP00000306138:p.Ser116Phe	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31	Q6J164	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.S116F	ENST00000305447.4	37	c.347	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293726	0.80914	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.176519	0.51477	D	0.000086	D	0.92786	0.7706	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.922;0.954	D	0.92105	0.5691	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	116;116;116	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	F	116	ENSP00000402912:S116F;ENSP00000405690:S116F;ENSP00000305905:S116F;ENSP00000306138:S116F;ENSP00000376975:S116F;ENSP00000376972:S116F	.	S	-	2	0	GRM5	88420342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.671000	0.98627	2.514000	0.84764	0.563000	0.77884	TCC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.537	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	protein_coding	OTTHUMT00000259226.1	G	NM_000842	-		88780694	-1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88780694	G	A	88780694	3	1	196	1	0	0	0	0	1	0	0	0	6802	1174	41	2	3327	2	GRM5	11	88780694	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	450203	88780694	46225822	1430	14702											
CCDC67	159989	genome.wustl.edu	37	chr11	93088656	93088656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacacgattagatcttcGggatcaagaattggcaaatg	12	6	2	3	rs201277348		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:93088656G>A	ENST00000298050.3	+	3	249	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.R50Q	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	50					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)				TTAGATCTTCGGGATCAAGAA	0.378																																																	0								ENSG00000165325	G	GLN/ARG	1,3737		0,1,1868	99	99	99		149	5.5	1	11		99	0,8196		0,0,4098	yes	missense	CCDC67	NM_181645.3	43	0,1,5966	AA,AG,GG		0.0,0.0268,0.0084	possibly-damaging	50/605	93088656	1,11933	1869	4098	5967	CCDC67	SO:0001583	missense	0			-	HGNC	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.149G>A	11.37:g.93088656G>A	ENSP00000298050:p.Arg50Gln	Somatic	0	58	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	Q8NEF1|Q96LL7	Missense_Mutation	SNP							superfamily_MHC_II-assoc_invariant_trimer	p.R50Q	ENST00000298050.3	37	c.149	CCDS44707.1	11	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453865	0.63290	2.68E-4	0.0	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.54	5.54	0.83059	.	0.100000	0.44688	D	0.000423	T	0.18299	0.0439	L	0.47716	1.5	0.32367	N	0.556372	P;P;P	0.50819	0.939;0.785;0.939	B;B;B	0.35931	0.214;0.127;0.214	T	0.25502	-1.0130	10	0.28530	T	0.3	.	9.7244	0.40322	0.1594:0.0:0.8406:0.0	.	50;50;42	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	Q	50	ENSP00000432111:R50Q;ENSP00000298050:R50Q;ENSP00000434635:R50Q;ENSP00000433002:R50Q	ENSP00000298050:R50Q	R	+	2	0	CCDC67	92728304	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.734000	0.47368	2.616000	0.88540	0.491000	0.48974	CGG	-	NULL		0.378	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	protein_coding		G	NM_181645	rs201277348		93088656	1	no_errors	ENST00000298050	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93088656	G	A	93088656	3	1	196	1	0	0	0	0	1	0	0	0	2841	1116	39	1	155	1	CCDC67	11	93088656	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4307962	93088656	41917860	1431	14703											
PANX1	24145	genome.wustl.edu	37	chr11	93912979	93912979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatcaaatcagggatcCtgagaaacgacagcaccgtg	11	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:93912979C>T	ENST00000227638.3	+	4	1142	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	PANX1_ENST00000436171.2_Silent_p.L253L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	253					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	ATCAGGGATCCTGAGAAACGA	0.478																																																	0								ENSG00000110218						217	189	198					11																	93912979		2201	4298	6499	PANX1	SO:0001819	synonymous_variant	0			-	HGNC	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.757C>T	11.37:g.93912979C>T		Somatic	0	49	0		0.52429534266604	11	52.17	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Silent	SNP							pfam_Innexin,pfscan_Innexin	p.L253	ENST00000227638.3	37	c.757	CCDS8296.1	11																																																																																			-	pfscan_Innexin		0.478	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	protein_coding	OTTHUMT00000396121.1	C	NM_015368	-		93912979	1	no_errors	ENST00000227638	ensembl	human	known	74_37	silent	SNP	1.000	T	T	93912979	C	T	93912979	2	4	196	1	0	0	0	0	0	0	0	1	11422	680	24	2		2	PANX1	11	93912979	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	824323	93912979	41093537	1432	14704											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103106525	103106525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttggaagaatggaccaAgtcagctggtcttgagagtt	13	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:103106525A>G	ENST00000375735.2	+	62	9836	c.9692A>G	c.(9691-9693)aAg>aGg	p.K3231R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K3231R|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	3231					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)		GAATGGACCAAGTCAGCTGGT	0.348																																																	0								ENSG00000187240						93	88	89					11																	103106525		1831	4101	5932	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.9692A>G	11.37:g.103106525A>G	ENSP00000364887:p.Lys3231Arg	Somatic	0	109	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	97	28.15	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3231R	ENST00000375735.2	37	c.9692	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577774	0.28180	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.48522	0.81;0.81	5.59	5.59	0.84812	.	0.234665	0.45361	D	0.000376	T	0.35770	0.0943	N	0.19112	0.55	0.31727	N	0.637587	B;B	0.17038	0.02;0.016	B;B	0.21151	0.033;0.029	T	0.36237	-0.9756	10	0.33940	T	0.23	.	15.8117	0.78571	1.0:0.0:0.0:0.0	.	3231;3231	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3231	ENSP00000364887:K3231R;ENSP00000381167:K3231R	ENSP00000364887:K3231R	K	+	2	0	DYNC2H1	102611735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.580000	0.53907	2.135000	0.66039	0.472000	0.43445	AAG	-	NULL		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	A	XM_370652	-		103106525	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	0.997	G	G	103106525	A	G	103106525	3	3	196	1	0	0	0	0	1	0	0	0	4848	72	3	5	9938	5	DYNC2H1	11	103106525	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	9193546	103106525	31899991	1433	14705											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103158310	103158310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagattgcaaagtgccatgGctctttttgcatgtaaaact	8	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:103158310G>A	ENST00000375735.2	+	75	11215	c.11071G>A	c.(11071-11073)Gct>Act	p.A3691T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3698T|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	3691	AAA 6. {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)		AAGTGCCATGGCTCTTTTTGC	0.333																																																	0								ENSG00000187240						98	94	95					11																	103158310		1844	4093	5937	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.11071G>A	11.37:g.103158310G>A	ENSP00000364887:p.Ala3691Thr	Somatic	0	86	0		0.52429534266604	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	56	35.63	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A3698T	ENST00000375735.2	37	c.11092	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711821	0.30322	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.08370	3.1;3.1	5.79	3.88	0.44766	Dynein heavy chain (1);	0.304312	0.35040	N	0.003492	T	0.03095	0.0091	N	0.02802	-0.49	0.44816	D	0.997828	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.006	T	0.34354	-0.9832	10	0.05721	T	0.95	.	10.8238	0.46620	0.0683:0.0:0.8012:0.1305	.	3691;3698	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	3691;3698	ENSP00000364887:A3691T;ENSP00000381167:A3698T	ENSP00000364887:A3691T	A	+	1	0	DYNC2H1	102663520	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.397000	0.52572	0.766000	0.33244	0.655000	0.94253	GCT	-	pfam_Dynein_heavy_dom		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	G	XM_370652	-		103158310	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103158310	G	A	103158310	3	1	196	1	0	0	0	0	1	0	0	0	4848	1203	42	2	11394	2	DYNC2H1	11	103158310	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	51785	103158310	31848206	1434	14706											
DDI1	414301	genome.wustl.edu	37	chr11	103908223	103908223	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccggcagcaaaacattgaaGaaaacatgaatatagcgata	8	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:103908223G>A	ENST00000302259.3	+	1	916	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	225							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAACATTGAAGAAAACATGAA	0.473																																																	0								ENSG00000170967						105	118	113					11																	103908223		2202	4299	6501	DDI1	SO:0001583	missense	0			-	HGNC		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.673G>A	11.37:g.103908223G>A	ENSP00000302805:p.Glu225Lys	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	53	22.06	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP							pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.E225K	ENST00000302259.3	37	c.673	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733279	0.89482	.	.	ENSG00000170967	ENST00000302259	T	0.47528	0.84	5.02	5.02	0.67125	Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.66439	2.03	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.68112	-0.5495	10	0.59425	D	0.04	-11.0943	16.2348	0.82365	0.0:0.0:1.0:0.0	.	225	Q8WTU0	DDI1_HUMAN	K	225	ENSP00000302805:E225K	ENSP00000302805:E225K	E	+	1	0	DDI1	103413433	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.016000	0.93645	2.781000	0.95711	0.655000	0.94253	GAA	-	pfam_Peptidase_aspartic_DDI1-type		0.473	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	protein_coding	OTTHUMT00000387326.1	G	NM_001001711	-		103908223	1	no_errors	ENST00000302259	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103908223	G	A	103908223	3	1	196	1	0	0	0	0	1	0	0	0	4330	943	33	2	675	2	DDI1	11	103908223	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	749913	103908223	31098293	1435	14707											
ATM	472	genome.wustl.edu	37	chr11	108153445	108153445	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggttcgtgcaggttttagaGaaagtttctgaaacttttgg	12	4	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:108153445G>A	ENST00000452508.2	+	26	3774	c.3585G>A	c.(3583-3585)gaG>gaA	p.E1195E	ATM_ENST00000278616.4_Silent_p.E1195E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1195					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGGTTTTAGAGAAAGTTTCTG	0.289			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0								ENSG00000149311						82	86	85					11																	108153445		2200	4291	6491	ATM	SO:0001819	synonymous_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3585G>A	11.37:g.108153445G>A		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1195	ENST00000452508.2	37	c.3585	CCDS31669.1	11																																																																																			-	superfamily_ARM-type_fold		0.289	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	G	NM_000051	-		108153445	1	no_errors	ENST00000278616	ensembl	human	known	74_37	silent	SNP	0.359	A	A	108153445	G	A	108153445	2	1	196	1	0	0	0	0	0	0	0	1	1109	933	33	2		2	ATM	11	108153445	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4245222	108153445	26853071	1436	14708											
ALG9	79796	genome.wustl.edu	37	chr11	111711380	111711380	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctccctgaaactcacctGaagtgcagagagagccacag	9	13	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:111711380G>A	ENST00000531154.1	-	10	1130	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Nonsense_Mutation_p.Q220*	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	391					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAACTCACCTGAAGTGCAGAG	0.393																																																	0								ENSG00000086848						85	88	87					11																	111711380		1898	4120	6018	ALG9	SO:0001587	stop_gained	0			-	HGNC		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.658C>T	11.37:g.111711380G>A	ENSP00000435517:p.Gln220*	Somatic	0	32	0		0.52429534266604	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Nonsense_Mutation	SNP							pfam_GPI_mannosylTrfase	p.Q220*	ENST00000531154.1	37	c.658	CCDS41714.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.594725	0.98378	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	.	.	.	5.42	5.42	0.78866	.	0.000000	0.40385	N	0.001112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.9419	19.5951	0.95533	0.0:0.0:1.0:0.0	.	.	.	.	X	220;220;624	.	ENSP00000381090:Q220X	Q	-	1	0	ALG9	111216590	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CAG	-	pfam_GPI_mannosylTrfase		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	protein_coding	OTTHUMT00000391485.1	G	NM_024740	-		111711380	-1	no_errors	ENST00000531154	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	111711380	G	A	111711380	4	1	196	1	0	0	0	0	0	1	0	0	524	1299	45	2	709	2	ALG9	11	111711380	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3557935	111711380	23295136	1437	14709											
DSCAML1	57453	genome.wustl.edu	37	chr11	117395666	117395666	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtcagccgggaggggcCggccatccttgagccagcgg	18	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:117395666C>G	ENST00000321322.6	-	5	972	c.971G>C	c.(970-972)cGg>cCg	p.R324P	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R54P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	264	Ig-like C2-type 4.				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)		CGGGAGGGGCCGGCCATCCTT	0.677																																																	0								ENSG00000177103						28	26	27					11																	117395666		2200	4295	6495	DSCAML1	SO:0001583	missense	0			-	HGNC		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.971G>C	11.37:g.117395666C>G	ENSP00000315465:p.Arg324Pro	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	64	17.95	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R324P	ENST00000321322.6	37	c.971	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305101	0.81247	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.67698	-0.28;-0.28	4.94	4.02	0.46733	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76751	0.4031	L	0.61387	1.9	0.54753	D	0.999981	D;D	0.60575	0.984;0.988	P;D	0.65140	0.888;0.932	T	0.75522	-0.3288	9	0.32370	T	0.25	.	14.7114	0.69235	0.1459:0.8541:0.0:0.0	.	54;264	G3V1B5;Q8TD84	.;DSCL1_HUMAN	P	54;324;31	ENSP00000434335:R54P;ENSP00000315465:R324P	ENSP00000315465:R324P	R	-	2	0	DSCAML1	116900876	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.710000	0.68392	1.299000	0.44798	0.555000	0.69702	CGG	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	C	NM_020693	-		117395666	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	SNP	1.000	G	G	117395666	C	G	117395666	3	3	196	1	0	0	0	0	1	0	0	0	4771	652	23	4	5486	4	DSCAML1	11	117395666	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5684286	117395666	17610850	1438	14710											
PHLDB1	23187	genome.wustl.edu	37	chr11	118499010	118499010	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggaagtggcagagagtcctCggccccggcgctgggcagcc	18	13	0	1	rs267602717		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118499010C>A	ENST00000361417.2	+	7	1882	c.1471C>A	c.(1471-1473)Cgg>Agg	p.R491R	PHLDB1_ENST00000356063.5_Silent_p.R491R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	491										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAGAGTCCTCGGCCCCGGCG	0.682																																																	0								ENSG00000019144						31	39	36					11																	118499010		2200	4294	6494	PHLDB1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1471C>A	11.37:g.118499010C>A		Somatic	0	72	0		0.52429534266604	15	46.43	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	72	35.14	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP							pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R491	ENST00000361417.2	37	c.1471	CCDS8401.1	11																																																																																			-	NULL		0.682	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	C	NM_015157	-		118499010	1	no_errors	ENST00000361417	ensembl	human	known	74_37	silent	SNP	0.700	A	A	118499010	C	A	118499010	2	1	196	1	0	0	0	0	0	0	0	1	11853	875	31	3		3	PHLDB1	11	118499010	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1103344	118499010	16507506	1439	14711											
BCL9L	283149	genome.wustl.edu	37	chr11	118769682	118769682	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccccgttggggtgggccgGatcacctcgctcagctcggg	15	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118769682G>A	ENST00000334801.3	-	8	4906	c.3942C>T	c.(3940-3942)atC>atT	p.I1314I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1314	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGTGGGCCGGATCACCTCGC	0.642																																																	0								ENSG00000186174						49	50	50					11																	118769682		2200	4295	6495	BCL9L	SO:0001819	synonymous_variant	0			-	HGNC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3942C>T	11.37:g.118769682G>A		Somatic	0	60	0		0.52429534266604	23	32.35	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	45	36.11	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP							pfam_BCL9_beta-catenin-bd_dom	p.I1314	ENST00000334801.3	37	c.3942	CCDS8403.1	11																																																																																			-	NULL		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	G	NM_182557	-		118769682	-1	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	SNP	1.000	A	A	118769682	G	A	118769682	2	1	196	1	0	0	0	0	0	0	0	1	1382	1164	41	2		2	BCL9L	11	118769682	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	270672	118769682	16236834	1440	14712											
BCL9L	283149	genome.wustl.edu	37	chr11	118772243	118772243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaactccatgcccatggGagtgcccgccaggccctcac	9	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118772243G>A	ENST00000334801.3	-	6	3173	c.2209C>T	c.(2209-2211)Ccc>Tcc	p.P737S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	737	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCCCATGGGAGTGCCCGCC	0.662																																																	0								ENSG00000186174						80	74	76					11																	118772243		2200	4294	6494	BCL9L	SO:0001583	missense	0			-	HGNC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2209C>T	11.37:g.118772243G>A	ENSP00000335320:p.Pro737Ser	Somatic	0	9	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	40.00	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP							pfam_BCL9_beta-catenin-bd_dom	p.P737S	ENST00000334801.3	37	c.2209	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240052	0.39598	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78246	-1.16	4.7	4.7	0.59300	.	0.000000	0.46442	D	0.000286	T	0.69405	0.3107	L	0.50333	1.59	0.43471	D	0.995686	P;P	0.46512	0.879;0.808	B;B	0.40101	0.319;0.17	T	0.66874	-0.5813	10	0.18710	T	0.47	-12.038	12.2807	0.54762	0.0:0.1713:0.8287:0.0	.	732;737	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	737;700;30;737;737	ENSP00000335320:P737S	ENSP00000335320:P737S	P	-	1	0	BCL9L	118277453	1.000000	0.71417	0.871000	0.34182	0.925000	0.55904	5.883000	0.69721	2.443000	0.82685	0.313000	0.20887	CCC	-	NULL		0.662	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	G	NM_182557	-		118772243	-1	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	SNP	0.989	A	A	118772243	G	A	118772243	3	1	196	1	0	0	0	0	1	0	0	0	1382	1174	41	2	2302	2	BCL9L	11	118772243	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2561	118772243	16234273	1441	14713											
HINFP	25988	genome.wustl.edu	37	chr11	118997780	118997780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcagcacctgcagcaGcacctgcatggctctgggga	12	14	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118997780G>A	ENST00000350777.2	+	2	189	c.126G>A	c.(124-126)caG>caA	p.Q42Q	HINFP_ENST00000527410.1_Silent_p.Q42Q|HINFP_ENST00000527354.1_Intron	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	42					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACCTGCAGCAGCACCTGCATG	0.547																																																	0								ENSG00000172273						82	72	75					11																	118997780		2200	4295	6495	HINFP	SO:0001819	synonymous_variant	0			-	HGNC	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.126G>A	11.37:g.118997780G>A		Somatic	0	37	0		0.52429534266604	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q42	ENST00000350777.2	37	c.126	CCDS8414.1	11																																																																																			-	NULL		0.547	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	protein_coding	OTTHUMT00000388201.2	G	NM_015517	-		118997780	1	no_errors	ENST00000350777	ensembl	human	known	74_37	silent	SNP	1.000	A	A	118997780	G	A	118997780	2	1	196	1	0	0	0	0	0	0	0	1	7112	962	34	2		2	HINFP	11	118997780	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	225537	118997780	16008736	1442	14714											
ABCG4	64137	genome.wustl.edu	37	chr11	119024743	119024743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacctcactgcaggttataaGacccttctcaagtgcctctc	6	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:119024743G>A	ENST00000449422.2	+	3	434	c.246G>A	c.(244-246)aaG>aaA	p.K82K	ABCG4_ENST00000307417.3_Silent_p.K82K|ABCG4_ENST00000531739.1_Silent_p.K82K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	82	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		CAGGTTATAAGACCCTTCTCA	0.507																																																	0								ENSG00000172350						106	113	111					11																	119024743		2200	4295	6495	ABCG4	SO:0001819	synonymous_variant	0			-	HGNC	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.246G>A	11.37:g.119024743G>A		Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	41.38	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP							pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K82	ENST00000449422.2	37	c.246	CCDS8415.1	11																																																																																			-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.507	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	protein_coding	OTTHUMT00000388215.1	G	NM_022169	-		119024743	1	no_errors	ENST00000307417	ensembl	human	known	74_37	silent	SNP	1.000	A	A	119024743	G	A	119024743	2	1	196	1	0	0	0	0	0	0	0	1	70	933	33	2		2	ABCG4	11	119024743	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	26963	119024743	15981773	1443	14715											
SORL1	6653	genome.wustl.edu	37	chr11	121478885	121478885	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaccataaaaggaaaaGgtaaatgatcccagcatttg	7	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:121478885G>A	ENST00000260197.7	+	38	5368	c.5239G>A	c.(5239-5241)Gtg>Atg	p.V1747M	SORL1_ENST00000532694.1_Splice_Site_p.V593M|SORL1_ENST00000534286.1_Splice_Site_p.V657M|SORL1_ENST00000527934.1_Splice_Site_p.V362M|SORL1_ENST00000525532.1_Splice_Site_p.V691M	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1747					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAAAGGAAAAGGTAAATGATC	0.368																																																	0								ENSG00000137642						79	75	77					11																	121478885		2202	4299	6501	SORL1	SO:0001630	splice_region_variant	0			-	HGNC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5239+1G>A	11.37:g.121478885G>A		Somatic	0	95	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	84	31.71	B2RNX7|Q92856	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V1747M	ENST00000260197.7	37	c.5239	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583418	0.65992	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.91740	-2.9;-2.64;-2.27;-2.3;-2.18	5.13	5.13	0.70059	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.510615	0.19902	N	0.103481	D	0.87779	0.6263	L	0.29908	0.895	0.80722	D	1	P;B	0.36733	0.567;0.162	B;B	0.33890	0.165;0.172	D	0.88254	0.2918	10	0.54805	T	0.06	.	18.1752	0.89759	0.0:0.0:1.0:0.0	.	362;1747	E9PKB0;Q92673	.;SORL_HUMAN	M	1747;691;593;657;362	ENSP00000260197:V1747M;ENSP00000434634:V691M;ENSP00000432131:V593M;ENSP00000436447:V657M;ENSP00000435405:V362M	ENSP00000260197:V1747M	V	+	1	0	SORL1	120984095	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.510000	0.81708	2.381000	0.81170	0.462000	0.41574	GTG	-	smart_Fibronectin_type3		0.368	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	protein_coding	OTTHUMT00000387626.2	G	NM_003105	-	Missense_Mutation	121478885	1	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121478885	G	A	121478885	5	1	196	1	0	0	0	0	0	0	1	0	14942	1014	35	2	5389	2	SORL1	11	121478885	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2454142	121478885	13527631	1444	14716											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123448193	123448193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtggagaagggctcagatCactcctcggacaagtccccg	13	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:123448193C>T	ENST00000529750.1	+	2	469	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.H48Y|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.H48Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	48						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGGCTCAGATCACTCCTCGGA	0.687											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000023171						22	28	26					11																	123448193		2109	4224	6333	GRAMD1B	SO:0001583	missense	0			-	HGNC	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.142C>T	11.37:g.123448193C>T	ENSP00000436500:p.His48Tyr	Somatic	0	82	0	1526	0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	74	33.63	Q6UW85|Q9ULL9	Missense_Mutation	SNP							pfam_GRAM,smart_GRAM	p.H48Y	ENST00000529750.1	37	c.142	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909441	0.72868	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.31247	1.91;1.9;1.9;1.89;1.5	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	N	0.14661	0.345	0.53005	D	0.999965	P;P;P;P	0.46706	0.814;0.883;0.666;0.814	B;P;B;B	0.49387	0.418;0.609;0.185;0.418	T	0.19418	-1.0306	10	0.59425	D	0.04	.	18.1148	0.89549	0.0:1.0:0.0:0.0	.	8;48;48;48	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	Y	48;48;48;48;8;44	ENSP00000402457:H48Y;ENSP00000325628:H48Y;ENSP00000436500:H48Y;ENSP00000432987:H8Y;ENSP00000434214:H44Y	ENSP00000325628:H48Y	H	+	1	0	GRAMD1B	122953403	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.597000	0.67577	2.275000	0.75901	0.462000	0.41574	CAC	-	NULL		0.687	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	protein_coding	OTTHUMT00000387404.2	C	XM_370660	-		123448193	1	no_errors	ENST00000322282	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123448193	C	T	123448193	3	4	196	1	0	0	0	0	1	0	0	0	6750	826	29	2	148	2	GRAMD1B	11	123448193	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1969308	123448193	11558323	1445	14717											
OR8D2	283160	genome.wustl.edu	37	chr11	124189418	124189418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtggaatgaataccaaGgatactagagaaaatgaaag	10	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:124189418G>A	ENST00000357438.2	-	1	766	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	226						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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGAATACCAAGGATACTAGAG	0.423																																																	0								ENSG00000197263						91	95	94					11																	124189418		2201	4299	6500	OR8D2	SO:0001583	missense	0			-	HGNC	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.676C>T	11.37:g.124189418G>A	ENSP00000350022:p.Leu226Phe	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	32	39.62	B9EH49|Q6IFR0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L226F	ENST00000357438.2	37	c.676	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	9.584	1.124387	0.20959	.	.	ENSG00000197263	ENST00000357438	T	0.00296	8.24	3.34	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.177154	0.25792	N	0.028264	T	0.00271	0.0008	M	0.72118	2.19	0.09310	N	0.999993	B	0.18968	0.032	B	0.21917	0.037	T	0.31138	-0.9954	10	0.48119	T	0.1	.	11.0056	0.47633	0.0974:0.0:0.9026:0.0	.	226	Q9GZM6	OR8D2_HUMAN	F	226	ENSP00000350022:L226F	ENSP00000350022:L226F	L	-	1	0	OR8D2	123694628	0.000000	0.05858	0.025000	0.17156	0.071000	0.16799	-0.239000	0.08965	1.007000	0.39238	0.530000	0.56133	CTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	protein_coding	OTTHUMT00000387286.1	G	NM_001002918	-		124189418	-1	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	SNP	0.277	A	A	124189418	G	A	124189418	3	1	196	1	0	0	0	0	1	0	0	0	11234	1000	35	2	262	2	OR8D2	11	124189418	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	741225	124189418	10817098	1446	14718											
ROBO4	54538	genome.wustl.edu	37	chr11	124756975	124756975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatgacagtgaggagctgGacaggcgactggaagctggg	20	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:124756975G>A	ENST00000306534.3	-	15	2818	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	ROBO4_ENST00000533054.1_Missense_Mutation_p.S633F|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	778	Pro/Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGAGGAGCTGGACAGGCGACT	0.652																																																	0								ENSG00000154133						38	40	39					11																	124756975		2201	4299	6500	ROBO4	SO:0001583	missense	0			-	HGNC	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2333C>T	11.37:g.124756975G>A	ENSP00000304945:p.Ser778Phe	Somatic	0	35	0		0.52429534266604	96	1.03	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S778F	ENST00000306534.3	37	c.2333	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562324	0.65538	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.81247	-1.47;-0.94	4.77	4.77	0.60923	.	1.303060	0.05819	N	0.615402	D	0.88537	0.6463	M	0.62723	1.935	0.21064	N	0.999799	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.71656	0.961;0.974;0.97	T	0.74087	-0.3778	10	0.72032	D	0.01	.	11.0916	0.48119	0.0911:0.0:0.9089:0.0	.	778;668;778	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	F	778;668;633	ENSP00000304945:S778F;ENSP00000437129:S633F	ENSP00000304945:S778F	S	-	2	0	ROBO4	124262185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.183000	0.50918	2.216000	0.71823	0.552000	0.68991	TCC	-	NULL		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	protein_coding	OTTHUMT00000387111.1	G	NM_019055	-		124756975	-1	no_errors	ENST00000306534	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124756975	G	A	124756975	3	1	196	1	0	0	0	0	1	0	0	0	13524	1174	41	2	706	2	ROBO4	11	124756975	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	567557	124756975	10249541	1447	14719											
KCNJ5	3762	genome.wustl.edu	37	chr11	128786615	128786615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtccagggaggccaggGgctcggtgtgaggggtgcag	23	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:128786615G>A	ENST00000338350.4	+	4	1601	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	KCNJ5_ENST00000533599.1_Missense_Mutation_p.G417S|KCNJ5_ENST00000529694.1_Missense_Mutation_p.G417S			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	417					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GGAGGCCAGGGGCTCGGTGTG	0.632																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0								ENSG00000120457						9	10	9					11																	128786615		2176	4228	6404	KCNJ5	SO:0001583	missense	0			-	HGNC	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1249G>A	11.37:g.128786615G>A	ENSP00000339960:p.Gly417Ser	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	62	28.74	B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.G417S	ENST00000338350.4	37	c.1249	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	g	8.048	0.765423	0.15914	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.88354	-2.37;-2.37;-2.37	4.06	3.04	0.35103	.	1.615960	0.03827	N	0.268493	T	0.79747	0.4499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67078	-0.5761	10	0.48119	T	0.1	.	8.5549	0.33476	0.1291:0.0:0.8709:0.0	.	417	P48544	IRK5_HUMAN	S	417	ENSP00000433295:G417S;ENSP00000339960:G417S;ENSP00000434266:G417S	ENSP00000339960:G417S	G	+	1	0	KCNJ5	128291825	0.998000	0.40836	0.730000	0.30809	0.099000	0.18886	2.806000	0.47947	2.120000	0.65058	0.466000	0.42574	GGC	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4		0.632	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	protein_coding	OTTHUMT00000386239.1	G	NM_000890	-		128786615	1	no_errors	ENST00000529694	ensembl	human	known	74_37	missense	SNP	0.004	A	A	128786615	G	A	128786615	3	1	196	1	0	0	0	0	1	0	0	0	8056	1232	43	2	1255	2	KCNJ5	11	128786615	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4029640	128786615	6219901	1448	14720											
PRDM10	56980	genome.wustl.edu	37	chr11	129827661	129827661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagcttccaccgggtGgatgtacaccagcgtgtgct	13	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:129827661G>A	ENST00000360871.3	-	3	445	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	PRDM10_ENST00000358825.5_Missense_Mutation_p.H72Y|PRDM10_ENST00000528746.1_Missense_Mutation_p.H72Y	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCCACCGGGTGGATGTACACC	0.488																																																	0								ENSG00000170325						138	124	129					11																	129827661		2201	4297	6498	PRDM10	SO:0001583	missense	0			-	HGNC	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.214C>T	11.37:g.129827661G>A	ENSP00000354118:p.His72Tyr	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	46	43.37	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H72Y	ENST00000360871.3	37	c.214	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444480	0.83993	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.58506	0.88;0.88;2.22;1.0;0.33	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.80764	0.994;0.986;0.968	T	0.71310	-0.4631	10	0.87932	D	0	-29.4146	19.951	0.97199	0.0:0.0:1.0:0.0	.	72;72;72	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	Y	72	ENSP00000351686:H72Y;ENSP00000354118:H72Y;ENSP00000431262:H72Y;ENSP00000432093:H72Y;ENSP00000436681:H72Y	ENSP00000351686:H72Y	H	-	1	0	PRDM10	129332871	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.476000	0.97823	2.723000	0.93209	0.650000	0.86243	CAC	-	NULL		0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	protein_coding	OTTHUMT00000386076.1	G	NM_199437	-		129827661	-1	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129827661	G	A	129827661	3	1	196	1	0	0	0	0	1	0	0	0	12456	1348	47	2	3384	2	PRDM10	11	129827661	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1041046	129827661	5178855	1449	14721											
NTM	50863	genome.wustl.edu	37	chr11	132016333	132016333	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagaacgtggatgtgtatGacgagggcccttacacctgc	12	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:132016333G>A	ENST00000374786.1	+	2	804	c.325G>A	c.(325-327)Gac>Aac	p.D109N	NTM_ENST00000374791.3_Missense_Mutation_p.D109N|NTM_ENST00000427481.2_Missense_Mutation_p.D100N|NTM_ENST00000374784.1_Missense_Mutation_p.D109N|NTM_ENST00000425719.2_Missense_Mutation_p.D109N|NTM_ENST00000539799.1_Missense_Mutation_p.D109N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	109	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGATGTGTATGACGAGGGCCC	0.577																																																	0								ENSG00000182667						173	119	137					11																	132016333		2201	4297	6498	NTM	SO:0001583	missense	0			-	HGNC	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.325G>A	11.37:g.132016333G>A	ENSP00000363918:p.Asp109Asn	Somatic	0	53	0		0.52429534266604	5	61.54	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	44	42.11	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D109N	ENST00000374786.1	37	c.325	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.597833	0.96602	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045498	0.85682	D	0.000000	D	0.83004	0.5160	H	0.96662	3.86	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.99;0.999;0.99;0.998;0.999	D;D;D;D;D;D	0.83275	0.996;0.996;0.993;0.996;0.986;0.993	D	0.88521	0.3096	10	0.87932	D	0	-30.9792	19.5604	0.95369	0.0:0.0:1.0:0.0	.	109;100;109;109;109;109	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	N	109;109;100;100;109;109;109	ENSP00000363923:D109N;ENSP00000437668:D109N;ENSP00000448104:D100N;ENSP00000416320:D100N;ENSP00000363918:D109N;ENSP00000396722:D109N;ENSP00000363916:D109N	ENSP00000363916:D109N	D	+	1	0	NTM	131521543	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	9.852000	0.99516	2.631000	0.89168	0.655000	0.94253	GAC	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	protein_coding	OTTHUMT00000141937.1	G	NM_016522	-		132016333	1	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132016333	G	A	132016333	3	1	196	1	0	0	0	0	1	0	0	0	10701	1290	45	2	417	2	NTM	11	132016333	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2188672	132016333	2990183	1450	14722											
OPCML	4978	genome.wustl.edu	37	chr11	132306560	132306560	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttaaaaggtacctggtttCttccttgaaccactggaatt	7	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:132306560C>A	ENST00000331898.7	-	5	1356	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	OPCML_ENST00000524381.1_Nonsense_Mutation_p.E253*|OPCML_ENST00000374778.4_Nonsense_Mutation_p.E219*|OPCML_ENST00000541867.1_Nonsense_Mutation_p.E260*|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	260	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TACCTGGTTTCTTCCTTGAAC	0.493																																																	0								ENSG00000183715						108	96	100					11																	132306560		2201	4297	6498	OPCML	SO:0001587	stop_gained	0			-	HGNC	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.778G>T	11.37:g.132306560C>A	ENSP00000330862:p.Glu260*	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	39	45.07	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E260*	ENST00000331898.7	37	c.778	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.233488	0.97399	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.68	5.68	0.88126	.	0.167769	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1514	19.3953	0.94604	0.0:1.0:0.0:0.0	.	.	.	.	X	260;253;219;227;260	.	ENSP00000330862:E260X	E	-	1	0	OPCML	131811770	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	7.487000	0.81328	2.671000	0.90904	0.650000	0.86243	GAA	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.493	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	protein_coding	OTTHUMT00000374689.3	C	NM_001012393	-		132306560	-1	no_errors	ENST00000541867	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	132306560	C	A	132306560	4	1	196	1	0	0	0	0	0	1	0	0	10876	922	32	3	271	3	OPCML	11	132306560	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	290227	132306560	2699956	1451	14723											
GLB1L2	89944	genome.wustl.edu	37	chr11	134244501	134244501	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctgtttcaagggctgGgagaagggggttgtattcat	14	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:134244501G>A	ENST00000535456.2	+	18	1901	c.1713G>A	c.(1711-1713)tgG>tgA	p.W571*	GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.W571*|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.W571*	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	571					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCAAGGGCTGGGAGAAGGGGG	0.552																																																	0								ENSG00000149328						126	126	126					11																	134244501		2201	4297	6498	GLB1L2	SO:0001587	stop_gained	0			-	HGNC		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1713G>A	11.37:g.134244501G>A	ENSP00000444628:p.Trp571*	Somatic	0	36	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP							pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.W571*	ENST00000535456.2	37	c.1713	CCDS31724.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.598405|6.598405	0.97692|0.97692	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089|ENST00000339772;ENST00000535456;ENST00000389881	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47673|.	0.1458|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37291|.	-0.9712|.	3|.	.|0.02654	.|T	.|1	-13.7639|-13.7639	19.2374|19.2374	0.93866|0.93866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	510|571	.|.	.|ENSP00000344659:W571X	G|W	+|+	1|3	0|0	GLB1L2|GLB1L2	133749711|133749711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.485000|8.485000	0.90448|0.90448	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	GGA|TGG	-	superfamily_Galactose-bd-like		0.552	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	protein_coding	OTTHUMT00000393629.2	G	NM_138342	-		134244501	1	no_errors	ENST00000339772	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	134244501	G	A	134244501	4	1	196	1	0	0	0	0	0	1	0	0	6431	1241	43	2	1783	2	GLB1L2	11	134244501	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1937941	134244501	762015	1452	14724											
B3GAT1	27087	genome.wustl.edu	37	chr11	134254067	134254067	+	Missense_Mutation	SNP	G	G	A													cgggcggcgtttcgcgtcggGggtcactgccctcatctgcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:134254067G>A	ENST00000524765.1	-	3	4672	c.128C>T	c.(127-129)cCc>cTc	p.P43L	B3GAT1_ENST00000312527.4_Missense_Mutation_p.P43L|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P56L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P43L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	43					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TTCGCGTCGGGGGTCACTGCC	0.706																																																	0								ENSG00000109956						21	16	18					11																	134254067		2125	4156	6281	B3GAT1	SO:0001583	missense	0			-	HGNC	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.128C>T	11.37:g.134254067G>A	ENSP00000433847:p.Pro43Leu	Somatic	0	9	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q96FS7	Missense_Mutation	SNP							pfam_Glyco_trans_43	p.P56L	ENST00000524765.1	37	c.167	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860615	0.32884	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.7	4.7	0.59300	.	0.560115	0.20087	N	0.099531	T	0.49525	0.1562	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.21309	0.016;0.054	B;B	0.20384	0.029;0.021	T	0.34179	-0.9839	10	0.27082	T	0.32	-17.2928	13.383	0.60780	0.0:0.1581:0.8419:0.0	.	56;43	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	L	43;43;43;56	ENSP00000376359:P43L;ENSP00000307875:P43L;ENSP00000433847:P43L;ENSP00000445983:P56L	ENSP00000307875:P43L	P	-	2	0	B3GAT1	133759277	0.997000	0.39634	0.804000	0.32291	0.167000	0.22549	3.502000	0.53332	2.157000	0.67596	0.491000	0.48974	CCC	-	NULL		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	protein_coding	OTTHUMT00000393639.1	G	NM_018644	-		134254067	-1	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	SNP	0.069	A	A	134254067	G	A	134254067	3	1	196	1	0	0	0	0	1	0	0	0	1253	1232	43	2	888	2	B3GAT1	11	134254067	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9566	134254067	752449	1453	14725	311	2									
B3GAT1	27087	genome.wustl.edu	37	chr11	134254068	134254068	+	Missense_Mutation	SNP	G	G	A													gggcggcgtttcgcgtcgggGgtcactgccctcatctgcgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:134254068G>A	ENST00000524765.1	-	3	4671	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	B3GAT1_ENST00000312527.4_Missense_Mutation_p.P43S|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P56S|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P43S			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	43					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TCGCGTCGGGGGTCACTGCCC	0.706																																																	0								ENSG00000109956						21	16	18					11																	134254068		2126	4156	6282	B3GAT1	SO:0001583	missense	0			-	HGNC	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.127C>T	11.37:g.134254068G>A	ENSP00000433847:p.Pro43Ser	Somatic	0	9	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q96FS7	Missense_Mutation	SNP							pfam_Glyco_trans_43	p.P56S	ENST00000524765.1	37	c.166	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149405	0.01714	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.61980	0.06;0.06;0.06;0.07	4.7	-0.37	0.12530	.	0.560115	0.20087	N	0.099531	T	0.25568	0.0622	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19778	-1.0295	10	0.05620	T	0.96	-17.2928	2.2438	0.04026	0.2418:0.4448:0.1746:0.1388	.	56;43	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	S	43;43;43;56	ENSP00000376359:P43S;ENSP00000307875:P43S;ENSP00000433847:P43S;ENSP00000445983:P56S	ENSP00000307875:P43S	P	-	1	0	B3GAT1	133759278	0.963000	0.33076	0.744000	0.31058	0.165000	0.22458	0.668000	0.25127	0.403000	0.25479	0.491000	0.48974	CCC	-	NULL		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	protein_coding	OTTHUMT00000393639.1	G	NM_018644	-		134254068	-1	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	SNP	0.037	A	A	134254068	G	A	134254068	3	1	196	1	0	0	0	0	1	0	0	0	1253	1232	43	2	889	2	B3GAT1	11	134254068	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	134254068	752448	1454	14726	311	2									
LRTM2	654429	genome.wustl.edu	37	chr12	1940156	1940156	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccctccccacctgccctttCtcctgcaagtgtgacagccg	8	19	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:1940156C>T	ENST00000543818.1	+	4	965	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Silent_p.F41F|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Silent_p.F41F	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	41	LRRNT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGCCCTTTCTCCTGCAAGT	0.647																																																	0								ENSG00000166159						67	54	58					12																	1940156		2203	4300	6503	LRTM2	SO:0001819	synonymous_variant	0			-	HGNC	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.123C>T	12.37:g.1940156C>T		Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	A7E2U6	Silent	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F41	ENST00000543818.1	37	c.123	CCDS31726.1	12																																																																																			-	pfam_LRR-contain_N,smart_LRR-contain_N		0.647	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	protein_coding	OTTHUMT00000398055.1	C		-		1940156	1	no_errors	ENST00000299194	ensembl	human	known	74_37	silent	SNP	0.168	T	T	1940156	C	T	1940156	2	4	196	1	0	0	0	0	0	0	0	1	9047	912	32	2		2	LRTM2	12	1940156	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		1940156	131911739	1455	14727											
CACNA1C	775	genome.wustl.edu	37	chr12	2693781	2693781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagagaaagaagctggcCaggtaaccctctaagcttgc	12	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:2693781C>T	ENST00000347598.4	+	16	2337	c.2337C>T	c.(2335-2337)gcC>gcT	p.A779A	CACNA1C_ENST00000399606.1_Silent_p.A779A|CACNA1C_ENST00000399644.1_Silent_p.A779A|CACNA1C_ENST00000399621.1_Silent_p.A779A|CACNA1C_ENST00000406454.3_Silent_p.A779A|CACNA1C_ENST00000399595.1_Silent_p.A779A|CACNA1C_ENST00000399649.1_Silent_p.A779A|CACNA1C_ENST00000399591.1_Silent_p.A779A|CACNA1C_ENST00000399637.1_Silent_p.A779A|CACNA1C_ENST00000399655.1_Silent_p.A779A|CACNA1C_ENST00000399617.1_Silent_p.A779A|CACNA1C_ENST00000399601.1_Silent_p.A779A|CACNA1C_ENST00000402845.3_Silent_p.A779A|CACNA1C_ENST00000399629.1_Silent_p.A779A|CACNA1C_ENST00000480911.1_Silent_p.A779A|CACNA1C_ENST00000344100.3_Silent_p.A779A|CACNA1C_ENST00000399603.1_Silent_p.A779A|CACNA1C_ENST00000327702.7_Silent_p.A779A|CACNA1C_ENST00000399641.1_Silent_p.A779A|CACNA1C_ENST00000399634.1_Silent_p.A779A|CACNA1C_ENST00000335762.5_Silent_p.A804A|CACNA1C_ENST00000399638.1_Silent_p.A779A|CACNA1C_ENST00000399597.1_Silent_p.A779A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	779					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	agaagCTGGCCAGGTAACCCT	0.562																																																	0								ENSG00000151067						60	67	65					12																	2693781		1951	4164	6115	CACNA1C	SO:0001819	synonymous_variant	0			-	HGNC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2337C>T	12.37:g.2693781C>T		Somatic	0	65	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A779	ENST00000347598.4	37	c.2337	CCDS44788.1	12																																																																																			-	NULL		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	protein_coding	OTTHUMT00000317035.1	C	NM_000719	-		2693781	1	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2693781	C	T	2693781	2	4	196	1	0	0	0	0	0	0	0	1	2542	581	21	2		2	CACNA1C	12	2693781	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	753625	2693781	131158114	1456	14728											
FOXM1	2305	genome.wustl.edu	37	chr12	2977887	2977887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcagacacagagttctGccaggacgctgatggtctcg	12	13	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:2977887G>T	ENST00000359843.3	-	4	756	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000342628.2_Missense_Mutation_p.Q230K|FOXM1_ENST00000361953.3_Missense_Mutation_p.Q230K	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	230					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACAGAGTTCTGCCAGGACGCT	0.512																																																	0								ENSG00000111206						150	133	139					12																	2977887		2203	4300	6503	FOXM1	SO:0001583	missense	0			-	HGNC	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.688C>A	12.37:g.2977887G>T	ENSP00000352901:p.Gln230Lys	Somatic	0	75	0		0.52429534266604	6	73.91	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	54	39.33	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q230K	ENST00000359843.3	37	c.688	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249393	0.59103	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92858	-3.0;-3.12;-3.02	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.461165	0.25277	N	0.031840	D	0.88097	0.6345	L	0.29908	0.895	0.42644	D	0.993423	B;B;B;B;B	0.18968	0.032;0.015;0.025;0.015;0.02	B;B;B;B;B	0.24394	0.012;0.021;0.028;0.021;0.053	T	0.82993	-0.0181	10	0.21014	T	0.42	.	18.7398	0.91769	0.0:0.0:1.0:0.0	.	229;230;230;230;230	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	K	230	ENSP00000342307:Q230K;ENSP00000354492:Q230K;ENSP00000352901:Q230K	ENSP00000342307:Q230K	Q	-	1	0	FOXM1	2848148	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	3.530000	0.53539	2.656000	0.90262	0.655000	0.94253	CAG	-	NULL		0.512	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	protein_coding	OTTHUMT00000398272.1	G	NM_021953	-		2977887	-1	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2977887	G	T	2977887	3	4	196	1	0	0	0	0	1	0	0	0	6020	1328	46	3	1745	3	FOXM1	12	2977887	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	284106	2977887	130874008	1457	14729											
TEAD4	7004	genome.wustl.edu	37	chr12	3147171	3147171	+	Missense_Mutation	SNP	C	C	T													catcgaggatgaaggcagctCcttctatggggtctccagcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3147171C>T	ENST00000397122.2	+	9	833	c.548C>T	c.(547-549)tCc>tTc	p.S183F	TEAD4_ENST00000359864.2_Missense_Mutation_p.S312F|TEAD4_ENST00000358409.2_Missense_Mutation_p.S269F	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	312					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GAAGGCAGCTCCTTCTATGGG	0.567																																																	0								ENSG00000197905						89	69	76					12																	3147171		2203	4300	6503	TEAD4	SO:0001583	missense	0			-	HGNC	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.548C>T	12.37:g.3147171C>T	ENSP00000380311:p.Ser183Phe	Somatic	0	42	0		0.52429534266604	45	40.79	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP							pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.S312F	ENST00000397122.2	37	c.935	CCDS41737.1	12	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965310	0.34659	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.33654	1.4;1.4;1.4	4.77	3.88	0.44766	.	0.149368	0.50627	D	0.000113	T	0.34106	0.0886	L	0.61036	1.89	0.40213	D	0.97765	B	0.09022	0.002	B	0.09377	0.004	T	0.24083	-1.0170	10	0.72032	D	0.01	-14.7797	8.5465	0.33424	0.0:0.8247:0.0:0.1753	.	312	Q15561	TEAD4_HUMAN	F	269;312;183	ENSP00000351184:S269F;ENSP00000352926:S312F;ENSP00000380311:S183F	ENSP00000351184:S269F	S	+	2	0	TEAD4	3017432	0.031000	0.19500	1.000000	0.80357	0.672000	0.39443	2.614000	0.46359	0.998000	0.38996	-0.136000	0.14681	TCC	-	pfam_TEA/ATTS,pirsf_TEF		0.567	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	protein_coding	OTTHUMT00000398477.1	C	NM_003213	-		3147171	1	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3147171	C	T	3147171	3	4	196	1	0	0	0	0	1	0	0	0	15748	855	30	2	969	2	TEAD4	12	3147171	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	169284	3147171	130704724	1458	14730	312	2									
TEAD4	7004	genome.wustl.edu	37	chr12	3147172	3147172	+	Silent	SNP	C	C	T													atcgaggatgaaggcagctcCttctatggggtctccagcca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3147172C>T	ENST00000397122.2	+	9	834	c.549C>T	c.(547-549)tcC>tcT	p.S183S	TEAD4_ENST00000359864.2_Silent_p.S312S|TEAD4_ENST00000358409.2_Silent_p.S269S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	312					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AAGGCAGCTCCTTCTATGGGG	0.572																																																	0								ENSG00000197905						88	69	75					12																	3147172		2203	4300	6503	TEAD4	SO:0001819	synonymous_variant	0			-	HGNC	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.549C>T	12.37:g.3147172C>T		Somatic	0	42	0		0.52429534266604	45	41.56	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP							pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.S312	ENST00000397122.2	37	c.936	CCDS41737.1	12																																																																																			-	pfam_TEA/ATTS,pirsf_TEF		0.572	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	protein_coding	OTTHUMT00000398477.1	C	NM_003213	-		3147172	1	no_errors	ENST00000359864	ensembl	human	known	74_37	silent	SNP	0.996	T	T	3147172	C	T	3147172	2	4	196	1	0	0	0	0	0	0	0	1	15748	668	24	2		2	TEAD4	12	3147172	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	3147172	130704723	1459	14731	312	2									
PRMT8	56341	genome.wustl.edu	37	chr12	3702286	3702286	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagacctcgatttcacagtaGacttggattttaagggacag	11	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3702286G>A	ENST00000382622.3	+	10	1513	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.D366N	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	375	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTTCACAGTAGACTTGGATTT	0.522																																																	0								ENSG00000111218						104	86	92					12																	3702286		2203	4300	6503	PRMT8	SO:0001583	missense	0			-	HGNC	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1123G>A	12.37:g.3702286G>A	ENSP00000372067:p.Asp375Asn	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	B2RDP0|Q8TBJ8	Missense_Mutation	SNP							pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.D375N	ENST00000382622.3	37	c.1123	CCDS8521.2	12	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189231	0.57909	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.23552	1.9;1.9	5.22	5.22	0.72569	.	0.042884	0.85682	D	0.000000	T	0.26629	0.0651	L	0.46885	1.475	0.58432	D	0.999999	B;B	0.11235	0.004;0.0	B;B	0.15052	0.012;0.002	T	0.02736	-1.1117	10	0.46703	T	0.11	.	16.2763	0.82644	0.0:0.0:1.0:0.0	.	366;375	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	N	366;375	ENSP00000414507:D366N;ENSP00000372067:D375N	ENSP00000372067:D375N	D	+	1	0	PRMT8	3572547	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.829000	0.86735	2.445000	0.82738	0.313000	0.20887	GAC	-	NULL		0.522	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	protein_coding	OTTHUMT00000250297.2	G	NM_019854	-		3702286	1	no_errors	ENST00000382622	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3702286	G	A	3702286	3	1	196	1	0	0	0	0	1	0	0	0	12547	942	33	2	1161	2	PRMT8	12	3702286	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	555114	3702286	130149609	1460	14732											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3806137	3806137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccaagtctctggggtctgGagactaccctcccgtcaggg	13	13	3	1	rs145705713		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3806137G>A	ENST00000252322.1	-	4	497	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.S10F|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S10F	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		10					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGGGGTCTGGAGACTACCCT	0.572																																																	0								ENSG00000130038						24	22	23					12																	3806137		2203	4300	6503	EFCAB4B	SO:0001583	missense	0			-	HGNC																												ENST00000252322.1:c.29C>T	12.37:g.3806137G>A	ENSP00000252322:p.Ser10Phe	Somatic	0	42	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	B4E1X0|B9EK63	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.S10F	ENST00000252322.1	37	c.29	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369117	0.42003	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62105	0.05;2.45;2.48	5.56	2.56	0.30785	.	0.590904	0.15673	N	0.250266	T	0.65831	0.2729	L	0.53249	1.67	0.09310	N	1	P;D;P	0.54207	0.94;0.965;0.94	P;P;P	0.54312	0.564;0.748;0.564	T	0.55302	-0.8162	10	0.52906	T	0.07	-5.4481	9.555	0.39332	0.0:0.2814:0.5744:0.1442	.	10;10;10	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	F	10	ENSP00000409382:S10F;ENSP00000412496:S10F;ENSP00000252322:S10F	ENSP00000252322:S10F	S	-	2	0	EFCAB4B	3676398	0.012000	0.17670	0.895000	0.35142	0.065000	0.16274	1.136000	0.31467	1.323000	0.45263	0.637000	0.83480	TCC	-	NULL		0.572	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	protein_coding	OTTHUMT00000398673.1	G		-		3806137	-1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	SNP	0.006	A	A	3806137	G	A	3806137	3	1	196	1	0	0	0	0	1	0	0	0	4939	1174	41	2	2426	2	EFCAB4B	12	3806137	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	103851	3806137	130045758	1461	14733											
GALNT8	26290	genome.wustl.edu	37	chr12	4835976	4835976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctcaatcgcaccatcCccgacacgcgagactacagg	8	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:4835976C>T	ENST00000252318.2	+	2	827	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	164					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCGCACCATCCCCGACACGCG	0.557																																					Colon(108;631 1558 7270 20097 39846)												0								ENSG00000130035						71	65	67					12																	4835976		2203	4300	6503	GALNT8	SO:0001583	missense	0			-	HGNC	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.490C>T	12.37:g.4835976C>T	ENSP00000252318:p.Pro164Ser	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	44	44.30	B2RU02	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P164S	ENST00000252318.2	37	c.490	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298653	0.81025	.	.	ENSG00000130035	ENST00000252318	T	0.60797	0.16	4.46	4.46	0.54185	.	0.212901	0.27951	N	0.017197	T	0.66886	0.2835	M	0.76838	2.35	0.36597	D	0.87446	D	0.61080	0.989	P	0.52109	0.69	T	0.75733	-0.3214	9	.	.	.	.	12.4799	0.55836	0.0:1.0:0.0:0.0	.	164	Q9NY28	GALT8_HUMAN	S	164	ENSP00000252318:P164S	.	P	+	1	0	GALNT8	4706237	0.478000	0.25917	0.693000	0.30195	0.766000	0.43426	1.884000	0.39668	2.296000	0.77279	0.655000	0.94253	CCC	-	NULL		0.557	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	protein_coding	OTTHUMT00000388277.2	C	NM_017417	-		4835976	1	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	SNP	0.999	T	T	4835976	C	T	4835976	3	4	196	1	0	0	0	0	1	0	0	0	6221	623	22	2	496	2	GALNT8	12	4835976	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1029839	4835976	129015919	1462	14734											
ANO2	57101	genome.wustl.edu	37	chr12	5687149	5687149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacagagaacttgccaattCcagagagaatgtcaaaccag	8	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:5687149C>T	ENST00000356134.5	-	24	2485	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	ANO2_ENST00000327087.8_Missense_Mutation_p.G804E|ANO2_ENST00000546188.1_Missense_Mutation_p.G805E	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	809					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						CTTGCCAATTCCAGAGAGAAT	0.507																																																	0								ENSG00000047617						134	131	132					12																	5687149		2003	4181	6184	ANO2	SO:0001583	missense	0			-	HGNC	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.2414G>A	12.37:g.5687149C>T	ENSP00000348453:p.Gly805Glu	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	C4N787|Q9H847	Missense_Mutation	SNP							pfam_Anoctamin	p.G805E	ENST00000356134.5	37	c.2414		12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559012	0.86231	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.64618	-0.11;-0.11;-0.11	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.92317	3.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.84215	0.0458	10	0.32370	T	0.25	.	18.0055	0.89208	0.0:1.0:0.0:0.0	.	804	Q9NQ90-3	.	E	804;805;805;809	ENSP00000314048:G804E;ENSP00000348453:G805E;ENSP00000440981:G805E	ENSP00000314048:G804E	G	-	2	0	ANO2	5557410	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.814000	0.69208	2.598000	0.87819	0.655000	0.94253	GGA	-	pfam_Anoctamin		0.507	ANO2-001	KNOWN	basic	protein_coding	ANO2	protein_coding	OTTHUMT00000399019.4	C	NM_020373	-		5687149	-1	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5687149	C	T	5687149	3	4	196	1	0	0	0	0	1	0	0	0	697	855	30	2	601	2	ANO2	12	5687149	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	851173	5687149	128164746	1463	14735											
NCAPD2	9918	genome.wustl.edu	37	chr12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagaggcagaactaatcCgtggcatctgcgagatggaa	12	9	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000010292						132	132	132					12																	6637024		2203	4300	6503	NCAPD2	SO:0001583	missense	0			-	HGNC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>T	12.37:g.6637024C>T	ENSP00000325017:p.Arg997Cys	Somatic	0	54	0		0.52429534266604	51	27.14	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	D3DUR4|Q8N6U3	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.R997C	ENST00000315579.5	37	c.2989	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	protein_coding	OTTHUMT00000399964.1	C	NM_014865	-		6637024	1	no_errors	ENST00000315579	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6637024	C	T	6637024	3	4	196	1	0	0	0	0	1	0	0	0	10207	652	23	1	3075	1	NCAPD2	12	6637024	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	949875	6637024	127214871	1464	14736											
NOP2	4839	genome.wustl.edu	37	chr12	6675465	6675465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatagggactggggtccCttcttaccagctgtctggac	11	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6675465C>T	ENST00000322166.5	-	5	397	c.276G>A	c.(274-276)aaG>aaA	p.K92K	NOP2_ENST00000545915.1_3'UTR|NOP2_ENST00000541778.1_Silent_p.K88K|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Silent_p.K88K|NOP2_ENST00000399466.2_Silent_p.K88K|NOP2_ENST00000540228.1_3'UTR|NOP2_ENST00000537442.1_Silent_p.K92K|NOP2_ENST00000382421.3_Silent_p.K92K	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	92					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTGGGGTCCCTTCTTACCAG	0.557																																																	0								ENSG00000111641						35	36	36					12																	6675465		1946	4147	6093	NOP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.276G>A	12.37:g.6675465C>T		Somatic	0	19	0		0.52429534266604	22	42.11	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP							NULL	p.R65K	ENST00000322166.5	37	c.194	CCDS58203.1	12																																																																																			-	NULL		0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	protein_coding	OTTHUMT00000402614.1	C	NM_006170	-		6675465	-1	no_errors	ENST00000538420	ensembl	human	known	74_37	missense	SNP	0.983	T	T	6675465	C	T	6675465	2	4	196	1	0	0	0	0	0	0	0	1	10540	680	24	2		2	NOP2	12	6675465	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	38441	6675465	127176430	1465	14737											
CHD4	1108	genome.wustl.edu	37	chr12	6692433	6692433	+	Nonsense_Mutation	SNP	G	G	A													ttttcctttgcccagatttcGggctagatcttcttgctgct					rs374465950		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6692433G>A	ENST00000357008.2	-	26	4154	c.3991C>T	c.(3991-3993)Cga>Tga	p.R1331*	CHD4_ENST00000309577.6_Nonsense_Mutation_p.R1331*|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Nonsense_Mutation_p.R1324*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R1328*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1331					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						CCCAGATTTCGGGCTAGATCT	0.522																																					Colon(32;586 792 4568 16848 45314)												0								ENSG00000111642						210	202	205					12																	6692433		2203	4300	6503	CHD4	SO:0001587	stop_gained	0			-	HGNC	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.3991C>T	12.37:g.6692433G>A	ENSP00000349508:p.Arg1331*	Somatic	0	49	0		0.52429534266604	54	20.59	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	22	54.00	Q8IXZ5	Nonsense_Mutation	SNP							pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1331*	ENST00000357008.2	37	c.3991	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.848031	0.99477	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3441	16.047	0.80725	0.0:0.0:0.8579:0.1421	.	.	.	.	X	1328;1324;1331;1331;1305	.	ENSP00000312419:R1331X	R	-	1	2	CHD4	6562694	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.295000	0.72744	2.832000	0.97577	0.655000	0.94253	CGA	-	pfam_DUF1087		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	protein_coding		G	NM_001273	-		6692433	-1	no_errors	ENST00000309577	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	6692433	G	A	6692433	4	1	196	1	0	0	0	0	0	1	0	0	3329	1124	39	1	1807	1	CHD4	12	6692433	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	16968	6692433	127159462	1466	14738	313	2									
CHD4	1108	genome.wustl.edu	37	chr12	6692434	6692434	+	Silent	SNP	G	G	A													tttcctttgcccagatttcgGgctagatcttcttgctgctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6692434G>A	ENST00000357008.2	-	26	4153	c.3990C>T	c.(3988-3990)gcC>gcT	p.A1330A	CHD4_ENST00000309577.6_Silent_p.A1330A|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Silent_p.A1323A|CHD4_ENST00000544484.1_Silent_p.A1327A	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1330					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						CCAGATTTCGGGCTAGATCTT	0.522																																					Colon(32;586 792 4568 16848 45314)												0								ENSG00000111642						213	204	207					12																	6692434		2203	4300	6503	CHD4	SO:0001819	synonymous_variant	0			-	HGNC	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.3990C>T	12.37:g.6692434G>A		Somatic	0	49	0		0.52429534266604	54	20.59	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	23	53.06	Q8IXZ5	Silent	SNP							pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1330	ENST00000357008.2	37	c.3990	CCDS8552.1	12																																																																																			-	pfam_DUF1087		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	protein_coding		G	NM_001273	-		6692434	-1	no_errors	ENST00000309577	ensembl	human	known	74_37	silent	SNP	1.000	A	A	6692434	G	A	6692434	2	1	196	1	0	0	0	0	0	0	0	1	3329	1219	43	2		2	CHD4	12	6692434	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	6692434	127159461	1467	14739	313	2									
ATN1	1822	genome.wustl.edu	37	chr12	7043434	7043434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaggggtcagcacgtcCagcagtgatggcaaagctga	15	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7043434C>T	ENST00000356654.4	+	3	360	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ATN1_ENST00000396684.2_Silent_p.S41S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	41					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCAGCACGTCCAGCAGTGATG	0.612																																																	0								ENSG00000111676						59	63	61					12																	7043434		2203	4300	6503	ATN1	SO:0001819	synonymous_variant	0			-	HGNC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.123C>T	12.37:g.7043434C>T		Somatic	0	14	0		0.52429534266604	23	51.06	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q99495|Q99621|Q9UEK7	Silent	SNP							pfam_Atrophin-like,prints_Atrophin-1	p.S41	ENST00000356654.4	37	c.123	CCDS31734.1	12																																																																																			-	pfam_Atrophin-like		0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	protein_coding	OTTHUMT00000401948.2	C	NM_001940	-		7043434	1	no_errors	ENST00000356654	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7043434	C	T	7043434	2	4	196	1	0	0	0	0	0	0	0	1	1111	581	21	2		2	ATN1	12	7043434	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	351000	7043434	126808461	1468	14740											
PEX5	5830	genome.wustl.edu	37	chr12	7362788	7362788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcgcgggatctgtccaCcctcctaactatgtttggcc	10	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7362788C>T	ENST00000455147.2	+	17	2469	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	PEX5_ENST00000412720.2_Missense_Mutation_p.T651I|PEX5_ENST00000434354.2_Missense_Mutation_p.T645I|PEX5_ENST00000420616.2_Missense_Mutation_p.T630I|PEX5_ENST00000266564.3_Missense_Mutation_p.T622I|PEX5_ENST00000266563.5_Missense_Mutation_p.T593I	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	630					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCTGTCCACCCTCCTAACT	0.607																																																	0								ENSG00000139197						75	68	71					12																	7362788		2203	4300	6503	PEX5	SO:0001583	missense	0			-	HGNC	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1889C>T	12.37:g.7362788C>T	ENSP00000400647:p.Thr630Ile	Somatic	0	36	0		0.52429534266604	28	9.68	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T645I	ENST00000455147.2	37	c.1934	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160494	0.38119	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.1	4.21	0.49690	.	0.239984	0.41605	D	0.000858	T	0.65873	0.2733	L	0.47190	1.495	0.42141	D	0.991515	P;B;B;B;B	0.52316	0.952;0.001;0.002;0.007;0.259	B;B;B;B;B	0.35813	0.211;0.002;0.005;0.008;0.057	T	0.65261	-0.6211	10	0.19590	T	0.45	.	13.4237	0.61013	0.0:0.9249:0.0:0.0751	.	651;645;630;622;593	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	I	630;593;645;630;651;622	ENSP00000400647:T630I;ENSP00000266563:T593I;ENSP00000407401:T645I;ENSP00000410159:T630I;ENSP00000391601:T651I;ENSP00000266564:T622I	ENSP00000266563:T593I	T	+	2	0	PEX5	7254055	1.000000	0.71417	0.259000	0.24435	0.857000	0.48899	4.784000	0.62411	1.388000	0.46506	0.561000	0.74099	ACC	-	NULL		0.607	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	protein_coding	OTTHUMT00000398611.1	C	NM_000319	-		7362788	1	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	SNP	0.960	T	T	7362788	C	T	7362788	3	4	196	1	0	0	0	0	1	0	0	0	11750	507	18	2	1992	2	PEX5	12	7362788	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	319354	7362788	126489107	1469	14741											
ACSM4	341392	genome.wustl.edu	37	chr12	7463239	7463239	+	Missense_Mutation	SNP	C	C	T													tggccagtgaggaggtggccCcagcggtggagtccattgta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7463239C>T	ENST00000399422.4	+	3	565	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	173					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GGAGGTGGCCCCAGCGGTGGA	0.537																																																	0								ENSG00000215009						48	48	48					12																	7463239		1992	4166	6158	ACSM4	SO:0001583	missense	0			-	HGNC		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.517C>T	12.37:g.7463239C>T	ENSP00000382349:p.Pro173Ser	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78	A8MTI6	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.P173S	ENST00000399422.4	37	c.517	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517442	0.13005	.	.	ENSG00000215009	ENST00000399422	T	0.10763	2.84	3.48	2.58	0.30949	AMP-dependent synthetase/ligase (1);	0.187978	0.25288	U	0.031745	T	0.13072	0.0317	L	0.37850	1.14	0.19945	N	0.99994	B	0.33919	0.432	P	0.45712	0.491	T	0.21793	-1.0235	10	0.27082	T	0.32	-0.8445	9.8773	0.41211	0.0:0.5914:0.4086:0.0	.	173	P0C7M7	ACSM4_HUMAN	S	173	ENSP00000382349:P173S	ENSP00000382349:P173S	P	+	1	0	ACSM4	7354506	0.001000	0.12720	0.259000	0.24435	0.010000	0.07245	1.202000	0.32271	0.824000	0.34613	-0.127000	0.14921	CCA	-	pfam_AMP-dep_Synth/Lig		0.537	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	protein_coding	OTTHUMT00000337866.2	C	NM_001080454	-		7463239	1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	SNP	0.221	T	T	7463239	C	T	7463239	3	4	196	1	0	0	0	0	1	0	0	0	186	623	22	2	527	2	ACSM4	12	7463239	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	100451	7463239	126388656	1470	14742	314	2									
ACSM4	341392	genome.wustl.edu	37	chr12	7463240	7463240	+	Missense_Mutation	SNP	C	C	T													ggccagtgaggaggtggcccCagcggtggagtccattgtat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7463240C>T	ENST00000399422.4	+	3	566	c.518C>T	c.(517-519)cCa>cTa	p.P173L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	173					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GAGGTGGCCCCAGCGGTGGAG	0.532																																																	0								ENSG00000215009						48	48	48					12																	7463240		1989	4165	6154	ACSM4	SO:0001583	missense	0			-	HGNC		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.518C>T	12.37:g.7463240C>T	ENSP00000382349:p.Pro173Leu	Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	60	21.05	A8MTI6	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.P173L	ENST00000399422.4	37	c.518	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	3.780	-0.045888	0.07452	.	.	ENSG00000215009	ENST00000399422	T	0.11495	2.77	3.48	1.38	0.22167	AMP-dependent synthetase/ligase (1);	0.187978	0.25288	U	0.031745	T	0.12178	0.0296	L	0.59967	1.855	0.24997	N	0.991492	B	0.26512	0.151	B	0.36766	0.232	T	0.23404	-1.0189	10	0.52906	T	0.07	-0.8445	3.6923	0.08351	0.414:0.4508:0.0:0.1352	.	173	P0C7M7	ACSM4_HUMAN	L	173	ENSP00000382349:P173L	ENSP00000382349:P173L	P	+	2	0	ACSM4	7354507	0.001000	0.12720	0.127000	0.21898	0.006000	0.05464	1.152000	0.31663	0.202000	0.20498	-0.345000	0.07892	CCA	-	pfam_AMP-dep_Synth/Lig		0.532	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	protein_coding	OTTHUMT00000337866.2	C	NM_001080454	-		7463240	1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	SNP	0.142	T	T	7463240	C	T	7463240	3	4	196	1	0	0	0	0	1	0	0	0	186	594	21	2	528	2	ACSM4	12	7463240	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	7463240	126388655	1471	14743	314	2									
CD163L1	283316	genome.wustl.edu	37	chr12	7522176	7522176	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaggtcccaggagtcAtcacacactgtgccccagga	11	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7522176A>T	ENST00000313599.3	-	15	3873	c.3816T>A	c.(3814-3816)gaT>gaA	p.D1272E	CD163L1_ENST00000396630.1_Missense_Mutation_p.D1272E|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1282E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1272	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGAGTCATCACACACTG	0.602																																																	0								ENSG00000177675						89	86	87					12																	7522176		2203	4300	6503	CD163L1	SO:0001583	missense	0			-	HGNC	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3816T>A	12.37:g.7522176A>T	ENSP00000315945:p.Asp1272Glu	Somatic	0	50	0		0.52429534266604	59	7.81	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D1272E	ENST00000313599.3	37	c.3816	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351107	0.61183	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.67	-3.03	0.05429	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.114087	0.36555	U	0.002530	T	0.64746	0.2626	H	0.96970	3.915	0.24179	N	0.995594	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57854	-0.7739	10	0.87932	D	0	.	8.0869	0.30777	0.5443:0.0:0.4557:0.0	.	1282;1272	E7EVK4;Q9NR16	.;C163B_HUMAN	E	1272;1282;1272	ENSP00000315945:D1272E;ENSP00000393474:D1282E;ENSP00000379871:D1272E	ENSP00000315945:D1272E	D	-	3	2	CD163L1	7413443	0.998000	0.40836	0.079000	0.20413	0.093000	0.18481	0.785000	0.26830	-0.687000	0.05162	-0.468000	0.05107	GAT	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.602	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	A	NM_174941	-		7522176	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	SNP	0.995	T	T	7522176	A	T	7522176	3	4	196	1	0	0	0	0	1	0	0	0	2970	214	8	5	565	5	CD163L1	12	7522176	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	58936	7522176	126329719	1472	14744											
CD163L1	283316	genome.wustl.edu	37	chr12	7550929	7550929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatccactgtgttcacagtCccagatatttgactcatttc	5	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7550929C>T	ENST00000313599.3	-	7	1717	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D554N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D564N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	554	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTCACAGTCCCAGATATTT	0.398																																																	0								ENSG00000177675						193	180	185					12																	7550929		2203	4300	6503	CD163L1	SO:0001583	missense	0			-	HGNC	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1660G>A	12.37:g.7550929C>T	ENSP00000315945:p.Asp554Asn	Somatic	0	53	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D554N	ENST00000313599.3	37	c.1660	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.560932	0.00910	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.77	-5.53	0.02552	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.455403	0.16984	U	0.191561	T	0.17066	0.0410	N	0.20986	0.625	0.19575	N	0.999966	B;B	0.28933	0.228;0.17	B;B	0.34489	0.048;0.184	T	0.19582	-1.0301	10	0.23302	T	0.38	.	2.6891	0.05116	0.1464:0.4538:0.148:0.2517	.	564;554	E7EVK4;Q9NR16	.;C163B_HUMAN	N	554;564;554	ENSP00000315945:D554N;ENSP00000393474:D564N;ENSP00000379871:D554N	ENSP00000315945:D554N	D	-	1	0	CD163L1	7442196	0.000000	0.05858	0.095000	0.20976	0.040000	0.13550	-2.546000	0.00932	-2.055000	0.00899	-0.384000	0.06662	GAC	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.398	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	C	NM_174941	-		7550929	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	SNP	0.303	T	T	7550929	C	T	7550929	3	4	196	1	0	0	0	0	1	0	0	0	2970	855	30	2	2753	2	CD163L1	12	7550929	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	28753	7550929	126300966	1473	14745											
CD163L1	283316	genome.wustl.edu	37	chr12	7556137	7556137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaaccttaccagaacAaattactccagcatctgatc	4	12	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7556137A>G	ENST00000313599.3	-	6	1459	c.1402T>C	c.(1402-1404)Tgt>Cgt	p.C468R	CD163L1_ENST00000396630.1_Missense_Mutation_p.C468R|CD163L1_ENST00000416109.2_Missense_Mutation_p.C478R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	468	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTACCAGAACAAATTACTCCA	0.393																																																	0								ENSG00000177675						78	76	77					12																	7556137		2203	4300	6503	CD163L1	SO:0001583	missense	0			-	HGNC	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1402T>C	12.37:g.7556137A>G	ENSP00000315945:p.Cys468Arg	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.C468R	ENST00000313599.3	37	c.1402	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274751	0.59649	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	2.01	2.01	0.26516	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.97829	0.9287	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97111	0.9804	9	0.87932	D	0	.	7.9359	0.29929	1.0:0.0:0.0:0.0	.	478;468	E7EVK4;Q9NR16	.;C163B_HUMAN	R	468;478;468;114	ENSP00000315945:C468R;ENSP00000393474:C478R;ENSP00000379871:C468R;ENSP00000439921:C114R	ENSP00000315945:C468R	C	-	1	0	CD163L1	7447404	1.000000	0.71417	0.137000	0.22149	0.528000	0.34623	8.039000	0.88947	1.154000	0.42482	0.460000	0.39030	TGT	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.393	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	A	NM_174941	-		7556137	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	SNP	0.969	G	G	7556137	A	G	7556137	3	3	196	1	0	0	0	0	1	0	0	0	2970	130	5	5	3015	5	CD163L1	12	7556137	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	5208	7556137	126295758	1474	14746											
CD163	9332	genome.wustl.edu	37	chr12	7640459	7640459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagatgggactcatgtcCctcacactggaattcttcag	9	10	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7640459C>T	ENST00000359156.4	-	7	1847	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	CD163_ENST00000396620.3_Missense_Mutation_p.G549R|CD163_ENST00000541972.1_Missense_Mutation_p.G537R|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.G549R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	549	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GACTCATGTCCCTCACACTGG	0.527																																																	0								ENSG00000177575						108	97	101					12																	7640459		2203	4300	6503	CD163	SO:0001583	missense	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1645G>A	12.37:g.7640459C>T	ENSP00000352071:p.Gly549Arg	Somatic	0	66	0		0.52429534266604	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G549R	ENST00000359156.4	37	c.1645	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432030	0.62844	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	H	0.95437	3.67	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83045	-0.0155	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	549;549;549	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	549;537;549;549	ENSP00000352071:G549R;ENSP00000444071:G537R;ENSP00000379863:G549R;ENSP00000403885:G549R	ENSP00000352071:G549R	G	-	1	0	CD163	7531726	1.000000	0.71417	0.129000	0.21949	0.257000	0.26127	5.878000	0.69682	2.663000	0.90544	0.655000	0.94253	GGA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.527	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416	-		7640459	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	SNP	0.998	T	T	7640459	C	T	7640459	3	4	196	1	0	0	0	0	1	0	0	0	2969	632	22	2	1865	2	CD163	12	7640459	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	84322	7640459	126211436	1475	14747											
CLEC4C	170482	genome.wustl.edu	37	chr12	7894031	7894031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtaccttctatgtcctttCcttccatgacgcaggtcagg	8	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7894031C>T	ENST00000542353.1	-	4	711	c.221G>A	c.(220-222)gGa>gAa	p.G74E	CLEC4C_ENST00000540085.1_Missense_Mutation_p.G43E|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G43E|CLEC4C_ENST00000360345.3_Missense_Mutation_p.G74E	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	74					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TATGTCCTTTCCTTCCATGAC	0.408																																																	0								ENSG00000198178						192	164	173					12																	7894031		2203	4300	6503	CLEC4C	SO:0001583	missense	0			-	HGNC	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.221G>A	12.37:g.7894031C>T	ENSP00000440428:p.Gly74Glu	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.21	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G74E	ENST00000542353.1	37	c.221	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704537	0.30232	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	1.61	1.61	0.23674	.	.	.	.	.	T	0.31167	0.0788	M	0.62723	1.935	0.09310	N	1	D;P	0.76494	0.999;0.828	D;B	0.83275	0.996;0.236	T	0.14755	-1.0461	9	0.20046	T	0.44	.	6.6803	0.23117	0.0:1.0:0.0:0.0	.	43;74	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	E	74;43;43;74	ENSP00000440428:G74E;ENSP00000346648:G43E;ENSP00000445338:G43E;ENSP00000353500:G74E	ENSP00000346648:G43E	G	-	2	0	CLEC4C	7785298	0.004000	0.15560	0.046000	0.18839	0.088000	0.18126	1.209000	0.32357	1.193000	0.43086	0.514000	0.50259	GGA	-	NULL		0.408	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	protein_coding	OTTHUMT00000399750.1	C	NM_203503	-		7894031	-1	no_errors	ENST00000360345	ensembl	human	known	74_37	missense	SNP	0.060	T	T	7894031	C	T	7894031	3	4	196	1	0	0	0	0	1	0	0	0	3515	855	30	2	436	2	CLEC4C	12	7894031	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	253572	7894031	125957864	1476	14748											
CLEC4E	26253	genome.wustl.edu	37	chr12	8687363	8687363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcatggtggcacagtcCtccagggtagctatgttgtt	11	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:8687363C>T	ENST00000299663.3	-	6	696	c.531G>A	c.(529-531)gaG>gaA	p.E177E	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Silent_p.E132E	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	177	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGGCACAGTCCTCCAGGGTAG	0.413																																																	0								ENSG00000166523						121	112	115					12																	8687363		2203	4300	6503	CLEC4E	SO:0001819	synonymous_variant	0			-	HGNC	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"C-type lectin domain containing"	14555	protein-coding gene	gene with protein product		609962	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.531G>A	12.37:g.8687363C>T		Somatic	0	39	0		0.52429534266604	66	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	B2R6Q6	Silent	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E177	ENST00000299663.3	37	c.531	CCDS8594.1	12																																																																																			-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.413	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4E	protein_coding	OTTHUMT00000400566.1	C	NM_014358	-		8687363	-1	no_errors	ENST00000299663	ensembl	human	known	74_37	silent	SNP	0.988	T	T	8687363	C	T	8687363	2	4	196	1	0	0	0	0	0	0	0	1	3517	680	24	2		2	CLEC4E	12	8687363	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	793332	8687363	125164532	1477	14749											
A2M	2	genome.wustl.edu	37	chr12	9252103	9252103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcacagggattgagatGgaaaaatggcccttcactgg	12	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:9252103G>A	ENST00000318602.7	-	14	1882	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	525					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGATTGAGATGGAAAAATGGC	0.433																																																	0								ENSG00000175899						54	52	53					12																	9252103		1910	4142	6052	A2M	SO:0001819	synonymous_variant	0			-	HGNC	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1575C>T	12.37:g.9252103G>A		Somatic	0	86	0		0.52429534266604	119	16.78	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	59	20.27	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.S525	ENST00000318602.7	37	c.1575	CCDS44827.1	12																																																																																			-	pfam_A2M_N_2		0.433	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	protein_coding	OTTHUMT00000317233.2	G	NM_000014	-		9252103	-1	no_errors	ENST00000318602	ensembl	human	known	74_37	silent	SNP	0.000	A	A	9252103	G	A	9252103	2	1	196	1	0	0	0	0	0	0	0	1	4	1335	47	2		2	A2M	12	9252103	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	564740	9252103	124599792	1478	14750											
PZP	5858	genome.wustl.edu	37	chr12	9305772	9305772	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttatgacatattctccaggGagctctggcaatgagatctg	11	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:9305772G>A	ENST00000261336.2	-	30	3970	c.3942C>T	c.(3940-3942)ctC>ctT	p.L1314L	PZP_ENST00000381997.2_Silent_p.L1100L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1314					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						ATTCTCCAGGGAGCTCTGGCA	0.438																																					Melanoma(125;1402 1695 4685 34487 38571)												0								ENSG00000126838						158	160	160					12																	9305772		2203	4300	6503	PZP	SO:0001819	synonymous_variant	0			-	HGNC	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.3942C>T	12.37:g.9305772G>A		Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	68	16.05	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1314	ENST00000261336.2	37	c.3942	CCDS8600.1	12																																																																																			-	NULL		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	G	NM_002864	-		9305772	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	SNP	0.008	A	A	9305772	G	A	9305772	2	1	196	1	0	0	0	0	0	0	0	1	12877	1161	41	2		2	PZP	12	9305772	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	53669	9305772	124546123	1479	14751											
PRB4	5545	genome.wustl.edu	37	chr12	11461538	11461538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgggactggttgcctcCttgtgggggtggtctttctg	17	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:11461538C>T	ENST00000535904.1	-	3	412	c.379G>A	c.(379-381)Gga>Aga	p.G127R	PRB4_ENST00000279575.1_Missense_Mutation_p.G127R|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	148	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTGCCTCCTTGTGGGGGT	0.602										HNSCC(22;0.051)																																							0								ENSG00000230657						162	181	175					12																	11461538		2203	4300	6503	PRB4	SO:0001583	missense	0			-	HGNC		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.379G>A	12.37:g.11461538C>T	ENSP00000442834:p.Gly127Arg	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP							NULL	p.G127R	ENST00000535904.1	37	c.379	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	1.960	-0.439108	0.04636	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.06068	3.35;3.35	0.796	-1.59	0.08453	.	.	.	.	.	T	0.08179	0.0204	M	0.79693	2.465	0.09310	N	1	B	0.23540	0.087	B	0.13407	0.009	T	0.33317	-0.9873	9	0.62326	D	0.03	.	2.3847	0.04363	0.0:0.4021:0.3234:0.2745	.	127	E9PAL0	.	R	127	ENSP00000279575:G127R;ENSP00000442834:G127R	ENSP00000279575:G127R	G	-	1	0	PRB4	11352805	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.157000	0.16402	-0.906000	0.03866	0.197000	0.17608	GGA	-	NULL		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	protein_coding	OTTHUMT00000402308.1	C	NM_002723	-		11461538	-1	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	SNP	0.013	T	T	11461538	C	T	11461538	3	4	196	1	0	0	0	0	1	0	0	0	12450	690	24	2	368	2	PRB4	12	11461538	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2155766	11461538	122390357	1480	14752											
PRB4	5545	genome.wustl.edu	37	chr12	11461601	11461601	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttgggactggtttcctcCttgtgggggtggtctttctg	14	9	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:11461601C>G	ENST00000535904.1	-	3	349	c.316G>C	c.(316-318)Gga>Cga	p.G106R	PRB4_ENST00000279575.1_Missense_Mutation_p.G106R|PRB4_ENST00000445719.2_Missense_Mutation_p.G106R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	127	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTTCCTCCTTGTGGGGGT	0.617										HNSCC(22;0.051)																																							1	Substitution - Missense(1)	lung(1)						ENSG00000230657						207	216	213					12																	11461601		2203	4299	6502	PRB4	SO:0001583	missense	0			-	HGNC		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.316G>C	12.37:g.11461601C>G	ENSP00000442834:p.Gly106Arg	Somatic	0	98	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	59	34.44	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP							NULL	p.G106R	ENST00000535904.1	37	c.316	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	0.203	-1.042912	0.01997	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.09350	2.99;2.99;2.99	0.769	-0.233	0.13078	.	.	.	.	.	T	0.12178	0.0296	M	0.78456	2.415	0.09310	N	1	B	0.23540	0.087	B	0.18263	0.021	T	0.30822	-0.9965	9	0.54805	T	0.06	.	3.1148	0.06371	0.0:0.6525:0.0:0.3475	.	106	E9PAL0	.	R	106	ENSP00000279575:G106R;ENSP00000442834:G106R;ENSP00000412740:G106R	ENSP00000279575:G106R	G	-	1	0	PRB4	11352868	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.256000	0.18351	-0.115000	0.11915	0.196000	0.17591	GGA	-	NULL		0.617	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	protein_coding	OTTHUMT00000402308.1	C	NM_002723	-		11461601	-1	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	SNP	0.000	G	G	11461601	C	G	11461601	3	3	196	1	0	0	0	0	1	0	0	0	12450	690	24	4	431	4	PRB4	12	11461601	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	63	11461601	122390294	1481	14753											
GPRC5A	9052	genome.wustl.edu	37	chr12	13061396	13061396	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctactcagtttctcttCctcctgggtgtgttgggcat	10	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:13061396C>T	ENST00000014914.5	+	2	1103	c.213C>T	c.(211-213)ttC>ttT	p.F71F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	71					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	AGTTTCTCTTCCTCCTGGGTG	0.572																																																	0								ENSG00000013588						168	151	156					12																	13061396		2203	4300	6503	GPRC5A	SO:0001819	synonymous_variant	0			-	HGNC	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.213C>T	12.37:g.13061396C>T		Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B3KV45|O95357	Silent	SNP							pfam_GPCR_3_C	p.F71	ENST00000014914.5	37	c.213	CCDS8657.1	12																																																																																			-	pfam_GPCR_3_C		0.572	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	protein_coding	OTTHUMT00000400682.1	C		-		13061396	1	no_errors	ENST00000014914	ensembl	human	known	74_37	silent	SNP	1.000	T	T	13061396	C	T	13061396	2	4	196	1	0	0	0	0	0	0	0	1	6726	854	30	2		2	GPRC5A	12	13061396	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1599795	13061396	120790499	1482	14754											
PLBD1	79887	genome.wustl.edu	37	chr12	14689593	14689593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagagtgagggaatcagatCcaatagatctccaacactat	9	8	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:14689593C>T	ENST00000240617.5	-	5	1262	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	204					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|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)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAATCAGATCCAATAGATCT	0.438																																																	0								ENSG00000121316						155	140	145					12																	14689593		2203	4300	6503	PLBD1	SO:0001583	missense	0			-	HGNC	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.610G>A	12.37:g.14689593C>T	ENSP00000240617:p.Asp204Asn	Somatic	0	84	0		0.52429534266604	41	2.38	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	70	16.67	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP							pfam_PLipase_B-like	p.D204N	ENST00000240617.5	37	c.610	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384203	0.82792	.	.	ENSG00000121316	ENST00000240617	T	0.42131	0.98	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78368	-0.2231	10	0.87932	D	0	-22.6693	17.1314	0.86727	0.0:1.0:0.0:0.0	.	204	Q6P4A8	PLBL1_HUMAN	N	204	ENSP00000240617:D204N	ENSP00000240617:D204N	D	-	1	0	PLBD1	14580860	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	6.734000	0.74801	2.785000	0.95823	0.591000	0.81541	GAT	-	pfam_PLipase_B-like		0.438	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	protein_coding	OTTHUMT00000401203.1	C	NM_024829	-		14689593	-1	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14689593	C	T	14689593	3	4	196	1	0	0	0	0	1	0	0	0	12027	855	30	2	1079	2	PLBD1	12	14689593	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1628197	14689593	119162302	1483	14755											
PLCZ1	93661	genome.wustl.edu	37	chr12	18889211	18889211	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatctaatttttcaagtaAcctctgagttttttctaggt	5	6	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:18889211A>G	ENST00000317658.3	+	0	0				PLCZ1_ENST00000266505.7_Silent_p.L27L|PLCZ1_ENST00000435379.1_Silent_p.L25L|PLCZ1_ENST00000447925.2_Silent_p.L25L|PLCZ1_ENST00000539875.1_Silent_p.L27L|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTTTCAAGTAACCTCTGAGTT	0.363																																																	0								ENSG00000139151						89	90	90					12																	18889211		2203	4300	6503	PLCZ1	SO:0001631	upstream_gene_variant	0			-	HGNC	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889211A>G	Exception_encountered	Somatic	0	109	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	56	49.09	Q969J0	Silent	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L27	ENST00000317658.3	37	c.79	CCDS8681.1	12																																																																																			-	NULL		0.363	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCZ1	protein_coding	OTTHUMT00000401902.1	A	NM_033328	-		18889211	-1	no_errors	ENST00000266505	ensembl	human	known	74_37	silent	SNP	0.956	G	G	18889211	A	G	18889211	1	3	196	0	1	0	0	0	0	0	0	0	12046	40	2	5		5	PLCZ1	12	18889211	5'Flank	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	4199618	18889211	114962684	1484	14756											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20905387	20905387	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaatggtgtctacaagattCcaaaaggaaaattacactac	6	8	1	1	rs143276480		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:20905387C>T	ENST00000266509.2	+	15	2432	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P723S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P605S|SLCO1C1_ENST00000540354.1_Silent_p.F639F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P723S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	688					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)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTACAAGATTCCAAAAGGAAA	0.353																																																	0								ENSG00000139155						91	85	87					12																	20905387		2203	4300	6503	SLCO1C1	SO:0001819	synonymous_variant	0			-	HGNC	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.2064C>T	12.37:g.20905387C>T		Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.P723S	ENST00000266509.2	37	c.2167	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370630	0.05069	.	.	ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102	T;T;T	0.38887	1.11;1.11;1.17	5.44	-0.66	0.11421	.	3.686850	0.00508	N	0.000168	T	0.23926	0.0579	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10613	-1.0622	9	0.15952	T	0.53	.	5.7585	0.18186	0.0:0.4982:0.1274:0.3743	.	605;723	F5GZD6;Q5JPA4	.;.	S	723;723;605	ENSP00000444149:P723S;ENSP00000370964:P723S;ENSP00000444527:P605S	ENSP00000370964:P723S	P	+	1	0	SLCO1C1	20796654	0.002000	0.14202	0.000000	0.03702	0.023000	0.10783	0.080000	0.14802	-0.057000	0.13199	-0.136000	0.14681	CCA	-	NULL		0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	protein_coding	OTTHUMT00000401765.1	C	NM_017435	-		20905387	1	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	SNP	0.000	T	T	20905387	C	T	20905387	2	4	196	1	0	0	0	0	0	0	0	1	14733	855	30	2		2	SLCO1C1	12	20905387	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2016176	20905387	112946508	1485	14757											
LST-3TM12	338821	genome.wustl.edu	37	chr12	21196418	21196418	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagaaagaaaggaaagtttCactatttttgcatgtgctaa	8	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:21196418C>T	ENST00000421593.2	+	6	737	c.737C>T	c.(736-738)tCa>tTa	p.S246L	LST3_ENST00000381541.3_Missense_Mutation_p.S293L|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S293L	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGGAAAGTTTCACTATTTTTG	0.308																																																	0								ENSG00000205754						77	79	78					12																	21196418		2200	4298	6498	SLCO1B7	SO:0001583	missense	0			-	HGNC	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.737C>T	12.37:g.21196418C>T	ENSP00000394168:p.Ser246Leu	Somatic	0	87	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	Q71QF0	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S293L	ENST00000421593.2	37	c.878	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	9.220	1.033176	0.19590	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80033	-1.33;-1.33;1.01	3.17	1.15	0.20763	.	2.343100	0.01556	N	0.019916	T	0.78553	0.4301	M	0.62266	1.93	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.17722	0.019;0.012	T	0.54603	-0.8269	10	0.40728	T	0.16	.	6.2819	0.21011	0.0:0.726:0.0:0.274	.	246;293	G3V0H7;F5H094	.;.	L	293;293;246	ENSP00000370952:S293L;ENSP00000452013:S293L;ENSP00000394168:S246L	ENSP00000370952:S293L	S	+	2	0	SLCO1B7;RP11-545J16.1	21087685	0.971000	0.33674	0.002000	0.10522	0.156000	0.22039	2.570000	0.45981	0.131000	0.18576	0.305000	0.20034	TCA	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	protein_coding	OTTHUMT00000402066.1	C	NM_001009562	-		21196418	1	no_errors	ENST00000554957	ensembl	human	known	74_37	missense	SNP	0.002	T	T	21196418	C	T	21196418	3	4	196	1	0	0	0	0	1	0	0	0	9068	838	29	2	759	2	LST-3TM12	12	21196418	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	291031	21196418	112655477	1486	14758											
KIF21A	55605	genome.wustl.edu	37	chr12	39757000	39757000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcccaaggcacttattaCattgccaagtgccaactaaa	6	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:39757000C>A	ENST00000361418.5	-	7	934	c.919G>T	c.(919-921)Gta>Tta	p.V307L	KIF21A_ENST00000395670.3_Missense_Mutation_p.V307L|KIF21A_ENST00000361961.3_Missense_Mutation_p.V307L|KIF21A_ENST00000541463.2_Missense_Mutation_p.V307L|KIF21A_ENST00000544797.2_Missense_Mutation_p.V307L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	307	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCACTTATTACATTGCCAAGT	0.368																																																	0								ENSG00000139116						123	121	122					12																	39757000		2203	4300	6503	KIF21A	SO:0001583	missense	0			-	HGNC	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.919G>T	12.37:g.39757000C>A	ENSP00000354878:p.Val307Leu	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	45	41.56	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.V307L	ENST00000361418.5	37	c.919	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348770	0.82132	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.87	4.87	0.63330	Kinesin, motor domain (3);	0.000000	0.47093	D	0.000256	D	0.92456	0.7605	M	0.93507	3.425	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.967;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.999;0.97;0.998;0.997;0.998	D	0.94561	0.7762	10	0.87932	D	0	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	307;307;307;307;307	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	L	307;307;307;307;307;307;130	ENSP00000354851:V307L;ENSP00000379029:V307L;ENSP00000445606:V307L;ENSP00000354878:V307L;ENSP00000438075:V307L;ENSP00000449700:V130L	ENSP00000344501:V307L	V	-	1	0	KIF21A	38043267	1.000000	0.71417	0.988000	0.46212	0.618000	0.37518	7.534000	0.82004	2.245000	0.73994	0.563000	0.77884	GTA	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom		0.368	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	C	NM_017641	-		39757000	-1	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39757000	C	A	39757000	3	1	196	1	0	0	0	0	1	0	0	0	8290	478	17	3	4233	3	KIF21A	12	39757000	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	18560582	39757000	94094895	1487	14759											
C12orf40	283461	genome.wustl.edu	37	chr12	40076480	40076480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaagattgtagaagcacgGatgaaataagacagtcagac	11	5	1	6			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:40076480G>A	ENST00000324616.5	+	8	908	c.754G>A	c.(754-756)Gat>Aat	p.D252N	C12orf40_ENST00000398716.1_Missense_Mutation_p.D175N|C12orf40_ENST00000405531.3_Missense_Mutation_p.D252N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	252										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAGAAGCACGGATGAAATAAG	0.328																																																	0								ENSG00000180116						123	124	124					12																	40076480		1830	4090	5920	C12orf40	SO:0001583	missense	0			-	HGNC	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.754G>A	12.37:g.40076480G>A	ENSP00000317671:p.Asp252Asn	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	93	18.42	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP							NULL	p.D252N	ENST00000324616.5	37	c.754	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.450755	0.01080	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.44881	0.91;0.92	5.36	-7.17	0.01511	.	1.097670	0.06972	N	0.818319	T	0.22513	0.0543	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.10636	T	0.68	.	12.1096	0.53831	0.7725:0.0:0.1238:0.1038	.	252	Q86WS4	CL040_HUMAN	N	252;175;252	ENSP00000383897:D252N;ENSP00000317671:D252N	ENSP00000317671:D252N	D	+	1	0	C12orf40	38362747	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-1.158000	0.03153	-1.429000	0.01987	-0.216000	0.12614	GAT	-	NULL		0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	protein_coding	OTTHUMT00000257664.2	G	NM_173599	-		40076480	1	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	SNP	0.000	A	A	40076480	G	A	40076480	3	1	196	1	0	0	0	0	1	0	0	0	1688	1174	41	2	784	2	C12orf40	12	40076480	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	319480	40076480	93775415	1488	14760											
PRICKLE1	144165	genome.wustl.edu	37	chr12	42858908	42858908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcagaggcatggacgtcttCaccaagactgcacgtttttg	10	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:42858908C>T	ENST00000455697.1	-	7	1213	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E310K|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E310K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E310K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E310K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	310	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGGACGTCTTCACCAAGACTG	0.512																																																	0								ENSG00000139174						109	107	108					12																	42858908		2203	4300	6503	PRICKLE1	SO:0001583	missense	0			-	HGNC	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.928G>A	12.37:g.42858908C>T	ENSP00000401060:p.Glu310Lys	Somatic	0	44	0		0.52429534266604	5	50	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.33	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP							pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E310K	ENST00000455697.1	37	c.928	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282416	0.80692	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.12	5.12	0.69794	Zinc finger, LIM-type (1);	0.044888	0.85682	D	0.000000	T	0.68714	0.3031	M	0.82923	2.615	0.80722	D	1	P	0.35944	0.529	B	0.36030	0.216	T	0.74253	-0.3725	10	0.59425	D	0.04	-12.8745	18.9256	0.92541	0.0:1.0:0.0:0.0	.	310	Q96MT3	PRIC1_HUMAN	K	310	ENSP00000401060:E310K;ENSP00000398947:E310K;ENSP00000448359:E310K;ENSP00000345064:E310K;ENSP00000449819:E310K	ENSP00000345064:E310K	E	-	1	0	PRICKLE1	41145175	1.000000	0.71417	0.931000	0.37212	0.841000	0.47740	6.050000	0.71063	2.531000	0.85337	0.650000	0.86243	GAA	-	NULL		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	protein_coding	OTTHUMT00000404069.1	C		-		42858908	-1	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42858908	C	T	42858908	3	4	196	1	0	0	0	0	1	0	0	0	12491	835	29	2	1575	2	PRICKLE1	12	42858908	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2782428	42858908	90992987	1489	14761											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43862452	43862452	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagaaatgagtcctttttCttcattaataaagcagcttt	6	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:43862452C>T	ENST00000389420.3	-	8	1173	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E392K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCCTTTTTCTTCATTAATA	0.338																																																	0								ENSG00000173157						123	130	127					12																	43862452		2203	4300	6503	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1174G>A	12.37:g.43862452C>T	ENSP00000374071:p.Glu392Lys	Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	61	12.86	A6NNC9|J3QT00	Missense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E392K	ENST00000389420.3	37	c.1174	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361357	0.82353	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.86497	-2.13;-2.13	5.2	5.2	0.72013	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000051	D	0.93138	0.7815	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93379	0.6742	10	0.87932	D	0	.	19.636	0.95733	0.0:1.0:0.0:0.0	.	392	P59510	ATS20_HUMAN	K	392	ENSP00000374071:E392K;ENSP00000448341:E392K	ENSP00000374068:E392K	E	-	1	0	ADAMTS20	42148719	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	7.275000	0.78548	2.814000	0.96858	0.655000	0.94253	GAA	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43862452	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43862452	C	T	43862452	3	4	196	1	0	0	0	0	1	0	0	0	266	922	32	2	4685	2	ADAMTS20	12	43862452	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1003544	43862452	89989443	1490	14762											
RAPGEF3	10411	genome.wustl.edu	37	chr12	48131351	48131351	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccagtcccagcccctcctCatggctccagctctcgggag	9	19	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:48131351C>T	ENST00000449771.2	-	28	2859	c.2771G>A	c.(2770-2772)tGa>tAa	p.*924*	RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000405493.2_Silent_p.*882*|RAPGEF3_ENST00000548919.1_Silent_p.*815*|RAPGEF3_ENST00000171000.4_Silent_p.*882*|RAPGEF3_ENST00000549151.1_Silent_p.*882*|RAPGEF3_ENST00000389212.3_Silent_p.*924*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	0					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.*882*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCCCCTCCTCATGGCTCCAG	0.647																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000079337						26	26	26					12																	48131351		2203	4300	6503	RAPGEF3	SO:0001819	synonymous_variant	0			-	HGNC	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2771G>A	12.37:g.48131351C>T		Somatic	0	106	0		0.52429534266604	33	2.94	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	91	16.36	A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP							pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.*924	ENST00000449771.2	37	c.2771	CCDS41775.1	12																																																																																			-	NULL		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	protein_coding	OTTHUMT00000257848.1	C	NM_006105	-		48131351	-1	no_errors	ENST00000389212	ensembl	human	known	74_37	silent	SNP	0.951	T	T	48131351	C	T	48131351	2	4	196	1	0	0	0	0	0	0	0	1	13053	837	29	2		2	RAPGEF3	12	48131351	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4268899	48131351	85720544	1491	14763											
OR10AD1	121275	genome.wustl.edu	37	chr12	48596332	48596332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtagagaaagatgacCacagtcaggtgagaggcaca	14	6	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:48596332C>T	ENST00000310248.2	-	1	838	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	248						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(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GAAAGATGACCACAGTCAGGT	0.512																																																	0								ENSG00000172640						93	90	91					12																	48596332		2203	4300	6503	OR10AD1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"GPCR / Class A : Olfactory receptors"	14819	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily AD, member 1 pseudogene"	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.744G>A	12.37:g.48596332C>T		Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	72	18.18	B9EGT9|Q6IFA8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V248	ENST00000310248.2	37	c.744	CCDS31787.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AD1	protein_coding	OTTHUMT00000397577.1	C		-		48596332	-1	no_errors	ENST00000310248	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48596332	C	T	48596332	2	4	196	1	0	0	0	0	0	0	0	1	10898	581	21	2		2	OR10AD1	12	48596332	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	464981	48596332	85255563	1492	14764											
OR8S1	341568	genome.wustl.edu	37	chr12	48919765	48919765	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagcctgccttctctcaggGatggcctatgaccgccatgc	11	14	2	1	rs528623386		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:48919765G>A	ENST00000310194.1	+	1	351	c.351G>A	c.(349-351)ggG>ggA	p.G117G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCTCTCAGGGATGGCCTATG	0.537													G|||	1	0.000199681	0	0	5008	,	,		19060	0		0	False		,,,				2504	0.001																0								ENSG00000197376						116	107	110					12																	48919765		2203	4300	6503	OR8S1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.351G>A	12.37:g.48919765G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G117	ENST00000310194.1	37	c.351	CCDS31789.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	protein_coding	OTTHUMT00000406881.1	G		-		48919765	1	no_errors	ENST00000310194	ensembl	human	known	74_37	silent	SNP	0.188	A	A	48919765	G	A	48919765	2	1	196	1	0	0	0	0	0	0	0	1	11248	1161	41	2		2	OR8S1	12	48919765	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	323433	48919765	84932130	1493	14765											
MLL2	8085	genome.wustl.edu	37	chr12	49426709	49426709	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgttgaagctgttgctgctGaagttgctgttgctgttgta	13	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:49426709G>A	ENST00000301067.7	-	39	11778	c.11779C>T	c.(11779-11781)Cag>Tag	p.Q3927*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3927	Gln-rich.				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)	p.Q3657*(1)|p.Q3927*(1)									tgttgctgctgaagttgctgt	0.532																																																	2	Substitution - Nonsense(2)	urinary_tract(2)						ENSG00000167548						18	19	19					12																	49426709		1807	3358	5165	KMT2D	SO:0001587	stop_gained	0			-	HGNC	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.11779C>T	12.37:g.49426709G>A	ENSP00000301067:p.Gln3927*	Somatic	0	22	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	O14687	Nonsense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3927*	ENST00000301067.7	37	c.11779	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	49	15.456938	0.99834	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.74	3.85	0.44370	.	0.000000	0.34906	N	0.003588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6853	0.56944	0.0872:0.0:0.9128:0.0	.	.	.	.	X	3927	.	ENSP00000301067:Q3927X	Q	-	1	0	MLL2	47712976	0.001000	0.12720	0.720000	0.30636	0.010000	0.07245	0.936000	0.28938	2.625000	0.88918	0.655000	0.94253	CAG	-	NULL		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	G		-		49426709	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	SNP	0.007	A	A	49426709	G	A	49426709	4	1	196	1	0	0	0	0	0	1	0	0	9623	1299	45	2	4898	2	MLL2	12	49426709	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	506944	49426709	84425186	1494	14766											
AQP5	362	genome.wustl.edu	37	chr12	50355888	50355888	+	Missense_Mutation	SNP	G	G	A													tcttcgtcttctttggcctgGgctcggccctcaagtggccg					rs139623970		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:50355888G>A	ENST00000293599.6	+	1	236	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					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						CTTTGGCCTGGGCTCGGCCCT	0.662																																																	0								ENSG00000161798						62	44	50					12																	50355888		2203	4300	6503	AQP5	SO:0001583	missense	0			-	HGNC	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.88G>A	12.37:g.50355888G>A	ENSP00000293599:p.Gly30Ser	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	58	30.95	Q6FGW8	Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.G30S	ENST00000293599.6	37	c.88	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205664	0.79127	.	.	ENSG00000161798	ENST00000293599	D	0.94723	-3.5	3.76	3.76	0.43208	Aquaporin-like (2);	0.100406	0.42420	D	0.000712	D	0.95909	0.8668	M	0.81682	2.555	0.51767	D	0.999935	P	0.45176	0.852	P	0.53809	0.735	D	0.95655	0.8710	10	0.48119	T	0.1	-9.1844	13.4687	0.61270	0.0:0.0:1.0:0.0	.	30	P55064	AQP5_HUMAN	S	30	ENSP00000293599:G30S	ENSP00000293599:G30S	G	+	1	0	AQP5	48642155	1.000000	0.71417	0.460000	0.27093	0.805000	0.45488	4.514000	0.60482	2.109000	0.64355	0.462000	0.41574	GGC	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.662	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	protein_coding	OTTHUMT00000405542.2	G	NM_001651	rs139623970		50355888	1	no_errors	ENST00000293599	ensembl	human	known	74_37	missense	SNP	0.997	A	A	50355888	G	A	50355888	3	1	196	1	0	0	0	0	1	0	0	0	829	1232	43	2	90	2	AQP5	12	50355888	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	929179	50355888	83496007	1495	14767	315	2									
AQP5	362	genome.wustl.edu	37	chr12	50355889	50355889	+	Missense_Mutation	SNP	G	G	A													cttcgtcttctttggcctggGctcggccctcaagtggccgt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:50355889G>A	ENST00000293599.6	+	1	237	c.89G>A	c.(88-90)gGc>gAc	p.G30D	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					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						TTTGGCCTGGGCTCGGCCCTC	0.662																																																	0								ENSG00000161798						62	44	50					12																	50355889		2203	4300	6503	AQP5	SO:0001583	missense	0			-	HGNC	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.89G>A	12.37:g.50355889G>A	ENSP00000293599:p.Gly30Asp	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	Q6FGW8	Missense_Mutation	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.G30D	ENST00000293599.6	37	c.89	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776263	0.70107	.	.	ENSG00000161798	ENST00000293599	D	0.94931	-3.56	3.76	1.92	0.25849	Aquaporin-like (2);	0.100406	0.42420	N	0.000712	D	0.98213	0.9409	H	0.99634	4.67	0.53005	D	0.99996	D	0.65815	0.995	D	0.75020	0.985	D	0.96092	0.9062	10	0.87932	D	0	-9.1844	7.715	0.28700	0.2149:0.0:0.7851:0.0	.	30	P55064	AQP5_HUMAN	D	30	ENSP00000293599:G30D	ENSP00000293599:G30D	G	+	2	0	AQP5	48642156	1.000000	0.71417	0.455000	0.27031	0.807000	0.45602	3.260000	0.51523	0.393000	0.25203	0.462000	0.41574	GGC	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.662	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	protein_coding	OTTHUMT00000405542.2	G	NM_001651	-		50355889	1	no_errors	ENST00000293599	ensembl	human	known	74_37	missense	SNP	0.997	A	A	50355889	G	A	50355889	3	1	196	1	0	0	0	0	1	0	0	0	829	1203	42	2	91	2	AQP5	12	50355889	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	50355889	83496006	1496	14768	315	2									
KRT5	3852	genome.wustl.edu	37	chr12	52911713	52911713	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcttcatgaagttaatctCatccatcagtgcatcaacct	4	12	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:52911713C>T	ENST00000252242.4	-	4	1285	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	299	Coil 1B.|Rod.				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)		AAGTTAATCTCATCCATCAGT	0.433																																																	0								ENSG00000186081						162	147	152					12																	52911713		2203	4300	6503	KRT5	SO:0001583	missense	0			-	HGNC		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.895G>A	12.37:g.52911713C>T	ENSP00000252242:p.Glu299Lys	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E299K	ENST00000252242.4	37	c.895	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.240845	0.95240	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.93019	-3.15	5.25	4.36	0.52297	Filament (1);	0.110148	0.39909	N	0.001233	D	0.97598	0.9213	H	0.96142	3.775	0.50171	D	0.999854	D	0.76494	0.999	D	0.73380	0.98	D	0.98570	1.0645	10	0.87932	D	0	.	13.8388	0.63426	0.0:0.9266:0.0:0.0734	.	299	P13647	K2C5_HUMAN	K	299;264	ENSP00000252242:E299K	ENSP00000252242:E299K	E	-	1	0	KRT5	51197980	1.000000	0.71417	0.984000	0.44739	0.948000	0.59901	7.651000	0.83577	1.432000	0.47375	0.561000	0.74099	GAG	-	pfam_IF		0.433	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	protein_coding	OTTHUMT00000405312.1	C		-		52911713	-1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52911713	C	T	52911713	3	4	196	1	0	0	0	0	1	0	0	0	8481	835	29	2	901	2	KRT5	12	52911713	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2555824	52911713	80940182	1497	14769											
KRT5	3852	genome.wustl.edu	37	chr12	52912820	52912820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgctgtccagctgcctcCtgaggttgttgatgtactgc	12	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:52912820C>T	ENST00000252242.4	-	2	1070	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	227	Coil 1B.|Rod.				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)		CAGCTGCCTCCTGAGGTTGTT	0.577																																																	0								ENSG00000186081						156	146	149					12																	52912820		2203	4300	6503	KRT5	SO:0001583	missense	0			-	HGNC		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.680G>A	12.37:g.52912820C>T	ENSP00000252242:p.Arg227Lys	Somatic	0	79	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	80	18.37	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R227K	ENST00000252242.4	37	c.680	CCDS8830.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.323257|4.323257	0.81580|0.81580	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000551188|ENST00000252242;ENST00000456000;ENST00000549420	.|D;D	.|0.91740	.|-2.9;-2.9	5.31|5.31	3.47|3.47	0.39725|0.39725	.|Filament (1);	.|0.102804	.|0.37437	.|N	.|0.002081	D|D	0.91503|0.91503	0.7317|0.7317	M|M	0.76328|0.76328	2.33|2.33	0.30351|0.30351	N|N	0.784764|0.784764	.|B	.|0.31581	.|0.329	.|B	.|0.37091	.|0.241	D|D	0.89161|0.89161	0.3530|0.3530	5|10	.|0.62326	.|D	.|0.03	.|.	11.117|11.117	0.48266|0.48266	0.0:0.7914:0.0:0.2086|0.0:0.7914:0.0:0.2086	.|.	.|227	.|P13647	.|K2C5_HUMAN	R|K	28|227;192;117	.|ENSP00000252242:R227K;ENSP00000447209:R117K	.|ENSP00000252242:R227K	G|R	-|-	1|2	0|0	KRT5|KRT5	51199087|51199087	0.001000|0.001000	0.12720|0.12720	0.981000|0.981000	0.43875|0.43875	0.988000|0.988000	0.76386|0.76386	1.533000|1.533000	0.36040|0.36040	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GGA|AGG	-	pfam_IF		0.577	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	protein_coding	OTTHUMT00000405312.1	C		-		52912820	-1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	SNP	0.997	T	T	52912820	C	T	52912820	3	4	196	1	0	0	0	0	1	0	0	0	8481	681	24	2	1124	2	KRT5	12	52912820	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1107	52912820	80939075	1498	14770											
KRT4	3851	genome.wustl.edu	37	chr12	53207481	53207481	+	Missense_Mutation	SNP	G	G	A													ggtcaatctccacgtggaggGgggtgagcaagctctggttg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:53207481G>A	ENST00000551956.1	-	1	854	c.362C>T	c.(361-363)cCc>cTc	p.P121L	KRT4_ENST00000458244.2_Missense_Mutation_p.P101L|KRT4_ENST00000293774.4_Missense_Mutation_p.P195L			P19013	K2C4_HUMAN	keratin 4	135	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CACGTGGAGGGGGGTGAGCAA	0.582																																					Pancreas(190;284 2995 41444 45903)												0								ENSG00000170477																																			KRT4	SO:0001583	missense	0			-	HGNC		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.362C>T	12.37:g.53207481G>A	ENSP00000448220:p.Pro121Leu	Somatic	0	60	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	69	19.77	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.P195L	ENST00000551956.1	37	c.584	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869228	0.91587	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75589	-0.95;-0.95;-0.95	4.88	4.88	0.63580	.	0.000000	0.46145	D	0.000316	D	0.90356	0.6982	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92896	0.6335	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	135	P19013	K2C4_HUMAN	L	121;195;101	ENSP00000448220:P121L;ENSP00000293774:P195L;ENSP00000387904:P101L	ENSP00000293774:P195L	P	-	2	0	KRT4	51493748	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	7.652000	0.83633	2.636000	0.89361	0.585000	0.79938	CCC	-	NULL		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	protein_coding	OTTHUMT00000405931.1	G	NM_002272	-		53207481	-1	no_errors	ENST00000293774	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53207481	G	A	53207481	3	1	196	1	0	0	0	0	1	0	0	0	8479	1232	43	2	1236	2	KRT4	12	53207481	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	294661	53207481	80644414	1499	14771	316	2									
KRT4	3851	genome.wustl.edu	37	chr12	53207482	53207482	+	Missense_Mutation	SNP	G	G	A													gtcaatctccacgtggagggGggtgagcaagctctggttga					rs200831095	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:53207482G>A	ENST00000551956.1	-	1	853	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	KRT4_ENST00000458244.2_Missense_Mutation_p.P101S|KRT4_ENST00000293774.4_Missense_Mutation_p.P195S			P19013	K2C4_HUMAN	keratin 4	135	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ACGTGGAGGGGGGTGAGCAAG	0.577																																					Pancreas(190;284 2995 41444 45903)												0								ENSG00000170477						96	106	103					12																	53207482		2202	4300	6502	KRT4	SO:0001583	missense	0			-	HGNC		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.361C>T	12.37:g.53207482G>A	ENSP00000448220:p.Pro121Ser	Somatic	0	60	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	69	20.69	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.P195S	ENST00000551956.1	37	c.583	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805616	0.90623	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.77229	-1.08;-1.08;-1.08	4.88	4.88	0.63580	.	0.000000	0.46145	D	0.000316	D	0.90796	0.7110	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92680	0.6157	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	135	P19013	K2C4_HUMAN	S	121;195;101	ENSP00000448220:P121S;ENSP00000293774:P195S;ENSP00000387904:P101S	ENSP00000293774:P195S	P	-	1	0	KRT4	51493749	1.000000	0.71417	0.992000	0.48379	0.931000	0.56810	9.492000	0.97957	2.636000	0.89361	0.585000	0.79938	CCC	-	NULL		0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	protein_coding	OTTHUMT00000405931.1	G	NM_002272	-		53207482	-1	no_errors	ENST00000293774	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53207482	G	A	53207482	3	1	196	1	0	0	0	0	1	0	0	0	8479	1232	43	2	1237	2	KRT4	12	53207482	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	53207482	80644413	1500	14772	316	2									
EIF4B	1975	genome.wustl.edu	37	chr12	53427627	53427627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactgaatctaaagcctcgGagtactcctaaggaagatga	9	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:53427627G>A	ENST00000262056.9	+	9	1343	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	EIF4B_ENST00000420463.3_Silent_p.R339R|EIF4B_ENST00000416762.3_Silent_p.R300R|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	339					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)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TAAAGCCTCGGAGTACTCCTA	0.468																																																	0								ENSG00000063046						70	64	66					12																	53427627		1811	4076	5887	EIF4B	SO:0001819	synonymous_variant	0			-	HGNC	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.1017G>A	12.37:g.53427627G>A		Somatic	0	93	0		0.52429534266604	88	20	22	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	69	19.77	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R339	ENST00000262056.9	37	c.1017	CCDS41788.1	12																																																																																			-	NULL		0.468	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	protein_coding	OTTHUMT00000404852.2	G	NM_001417	-		53427627	1	no_errors	ENST00000262056	ensembl	human	known	74_37	silent	SNP	1.000	A	A	53427627	G	A	53427627	2	1	196	1	0	0	0	0	0	0	0	1	5029	1161	41	2		2	EIF4B	12	53427627	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	220145	53427627	80424268	1501	14773											
OR6C6	283365	genome.wustl.edu	37	chr12	55688132	55688132	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acatcccagaagacttctttCacctgctggtttctgagagt	8	11	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55688132C>T	ENST00000358433.2	-	1	884	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	295						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(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACTTCTTTCACCTGCTGGT	0.343																																																	0								ENSG00000188324						59	64	62					12																	55688132		2203	4300	6503	OR6C6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.885G>A	12.37:g.55688132C>T		Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	59	15.71		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V295	ENST00000358433.2	37	c.885	CCDS31817.1	12																																																																																			-	prints_GPCR_Rhodpsn		0.343	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	protein_coding	OTTHUMT00000398151.1	C		-		55688132	-1	no_errors	ENST00000358433	ensembl	human	known	74_37	silent	SNP	0.910	T	T	55688132	C	T	55688132	2	4	196	1	0	0	0	0	0	0	0	1	11196	813	29	2		2	OR6C6	12	55688132	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2260505	55688132	78163763	1502	14774											
OR6C1	390321	genome.wustl.edu	37	chr12	55715280	55715280	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcaagtcaagcaagctttCattaacatggcaaggaagac	9	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55715280C>A	ENST00000379668.2	+	1	935	c.897C>A	c.(895-897)ttC>ttA	p.F299L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	299						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(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCAAGCTTTCATTAACATGG	0.413																																																	0								ENSG00000205330						128	124	126					12																	55715280		2203	4300	6503	OR6C1	SO:0001583	missense	0			-	HGNC	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.897C>A	12.37:g.55715280C>A	ENSP00000368990:p.Phe299Leu	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	31	54.41	B2RNM0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F299L	ENST00000379668.2	37	c.897	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	c	7.762	0.705566	0.15172	.	.	ENSG00000205330	ENST00000379668	T	0.34072	1.38	5.34	0.108	0.14548	.	0.303944	0.28589	N	0.014801	T	0.11495	0.0280	N	0.02120	-0.675	0.19775	N	0.999954	B	0.14012	0.009	B	0.17979	0.02	T	0.15665	-1.0429	10	0.44086	T	0.13	.	3.6144	0.08071	0.1772:0.3555:0.0:0.4673	.	299	Q96RD1	OR6C1_HUMAN	L	299	ENSP00000368990:F299L	ENSP00000368990:F299L	F	+	3	2	OR6C1	54001547	0.000000	0.05858	0.291000	0.24904	0.297000	0.27493	-1.337000	0.02657	0.107000	0.17824	-0.738000	0.03535	TTC	-	NULL		0.413	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	protein_coding	OTTHUMT00000398152.1	C	NM_001005182	-		55715280	1	no_errors	ENST00000379668	ensembl	human	known	74_37	missense	SNP	0.160	A	A	55715280	C	A	55715280	3	1	196	1	0	0	0	0	1	0	0	0	11192	825	29	3	899	3	OR6C1	12	55715280	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	27148	55715280	78136615	1503	14775											
OR6C75	390323	genome.wustl.edu	37	chr12	55759635	55759635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatatgatagttgtctcCatctcttacagtagctgtat	6	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55759635C>T	ENST00000343399.3	+	1	741	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TAGTTGTCTCCATCTCTTACA	0.418																																																	0								ENSG00000187857						104	94	97					12																	55759635		2203	4300	6503	OR6C75	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.741C>T	12.37:g.55759635C>T		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18		Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S247	ENST00000343399.3	37	c.741	CCDS31820.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	protein_coding	OTTHUMT00000406418.1	C		-		55759635	1	no_errors	ENST00000343399	ensembl	human	known	74_37	silent	SNP	0.186	T	T	55759635	C	T	55759635	2	4	196	1	0	0	0	0	0	0	0	1	11201	581	21	2		2	OR6C75	12	55759635	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	44355	55759635	78092260	1504	14776											
OR6C76	390326	genome.wustl.edu	37	chr12	55820153	55820153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatgtactgagtgttactgGaaatctaactatcatctccc	7	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55820153G>A	ENST00000328314.3	+	1	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G39E(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTGTTACTGGAAATCTAACT	0.423																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000185821						174	168	170					12																	55820153		2203	4300	6503	OR6C76	SO:0001583	missense	0			-	HGNC		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.116G>A	12.37:g.55820153G>A	ENSP00000328402:p.Gly39Glu	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	17	63.04		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G39E	ENST00000328314.3	37	c.116	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646349	0.47258	.	.	ENSG00000185821	ENST00000328314	T	0.04360	3.64	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.167830	0.27563	U	0.018811	T	0.11196	0.0273	M	0.78801	2.425	0.39792	D	0.972455	P	0.44578	0.838	B	0.41917	0.37	T	0.06954	-1.0798	10	0.72032	D	0.01	.	17.0151	0.86416	0.0:0.0:1.0:0.0	.	39	A6NM76	O6C76_HUMAN	E	39	ENSP00000328402:G39E	ENSP00000328402:G39E	G	+	2	0	OR6C76	54106420	0.971000	0.33674	0.766000	0.31476	0.501000	0.33797	2.491000	0.45303	2.405000	0.81733	0.598000	0.82781	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.423	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	protein_coding	OTTHUMT00000406675.1	G	NM_001005183	-		55820153	1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	SNP	0.995	A	A	55820153	G	A	55820153	3	1	196	1	0	0	0	0	1	0	0	0	11202	1174	41	2	118	2	OR6C76	12	55820153	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	60518	55820153	78031742	1505	14777											
OR6C68	403284	genome.wustl.edu	37	chr12	55886840	55886840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaacaattctaaaattcCcttctgttcaacaaaagaaa	3	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55886840C>T	ENST00000548615.1	+	1	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S	RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.P232S|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	227						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(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCTAAAATTCCCTTCTGTTCA	0.363																																																	0								ENSG00000205327						82	77	79					12																	55886840		2203	4300	6503	OR6C68	SO:0001583	missense	0			-	HGNC		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.679C>T	12.37:g.55886840C>T	ENSP00000448811:p.Pro227Ser	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P232S	ENST00000548615.1	37	c.694	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922996	0.73213	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.36878	1.23;1.23	5.3	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.140381	0.32819	N	0.005608	T	0.51753	0.1693	M	0.65677	2.01	0.09310	N	1	D	0.59357	0.985	P	0.59948	0.866	T	0.45205	-0.9277	10	0.59425	D	0.04	.	11.6704	0.51396	0.0:0.8532:0.0:0.1468	.	227	A6NDL8	O6C68_HUMAN	S	232;227	ENSP00000368983:P232S;ENSP00000448811:P227S	ENSP00000368983:P232S	P	+	1	0	OR6C68	54173107	0.000000	0.05858	0.146000	0.22360	0.652000	0.38707	0.307000	0.19296	0.738000	0.32606	0.603000	0.83216	CCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.363	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	protein_coding	OTTHUMT00000406677.1	C		-		55886840	1	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	SNP	0.051	T	T	55886840	C	T	55886840	3	4	196	1	0	0	0	0	1	0	0	0	11198	623	22	2	696	2	OR6C68	12	55886840	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	66687	55886840	77965055	1506	14778											
OR10P1	121130	genome.wustl.edu	37	chr12	56030944	56030944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctgggctccccgcatcCccaggccatctctttccagg	8	18	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56030944C>T	ENST00000309675.2	+	1	301	c.269C>T	c.(268-270)cCc>cTc	p.P90L	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCCCGCATCCCCAGGCCATC	0.602																																																	0								ENSG00000175398						81	71	75					12																	56030944		2203	4300	6503	OR10P1	SO:0001583	missense	0			-	HGNC	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.269C>T	12.37:g.56030944C>T	ENSP00000308082:p.Pro90Leu	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	B9EGY4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P90L	ENST00000309675.2	37	c.269	CCDS31828.1	12	.	.	.	.	.	.	.	.	.	.	C	0.347	-0.947310	0.02304	.	.	ENSG00000175398	ENST00000309675	T	0.00547	6.66	4.28	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.691410	0.12683	N	0.447852	T	0.00300	0.0009	N	0.03608	-0.345	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.46898	-0.9158	10	0.56958	D	0.05	.	3.1326	0.06429	0.1805:0.5456:0.1752:0.0987	.	90	Q8NGE3	O10P1_HUMAN	L	90	ENSP00000308082:P90L	ENSP00000308082:P90L	P	+	2	0	OR10P1	54317211	0.008000	0.16893	0.005000	0.12908	0.001000	0.01503	1.243000	0.32767	0.545000	0.28902	-0.310000	0.09108	CCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.602	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	protein_coding	OTTHUMT00000406680.1	C		-		56030944	1	no_errors	ENST00000309675	ensembl	human	known	74_37	missense	SNP	0.000	T	T	56030944	C	T	56030944	3	4	196	1	0	0	0	0	1	0	0	0	10917	623	22	2	271	2	OR10P1	12	56030944	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	144104	56030944	77820951	1507	14779											
SUOX	6821	genome.wustl.edu	37	chr12	56397910	56397910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtcagtcactgtctctttCcctggatgacttgcacaact	9	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56397910C>T	ENST00000394109.3	+	3	1461	c.737C>T	c.(736-738)tCc>tTc	p.S246F	SUOX_ENST00000548274.1_Missense_Mutation_p.S246F|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Missense_Mutation_p.S246F|SUOX_ENST00000394115.2_Missense_Mutation_p.S246F|SUOX_ENST00000266971.3_Missense_Mutation_p.S246F			P51687	SUOX_HUMAN	sulfite oxidase	246	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTCTCTTTCCCTGGATGAC	0.517																																																	0								ENSG00000139531						108	103	104					12																	56397910		2203	4300	6503	SUOX	SO:0001583	missense	0			-	HGNC	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.737C>T	12.37:g.56397910C>T	ENSP00000377668:p.Ser246Phe	Somatic	0	52	0		0.52429534266604	19	51.28	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21		Missense_Mutation	SNP							pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd	p.S246F	ENST00000394109.3	37	c.737	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451039	0.84209	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	4.91	4.91	0.64330	Oxidoreductase, molybdopterin-binding domain (3);	0.123173	0.56097	D	0.000036	D	0.96842	0.8969	M	0.87547	2.89	0.58432	D	0.999996	D	0.54207	0.965	P	0.55871	0.786	D	0.96930	0.9680	10	0.54805	T	0.06	-0.0973	17.414	0.87494	0.0:1.0:0.0:0.0	.	246	P51687	SUOX_HUMAN	F	246	ENSP00000348440:S246F;ENSP00000266971:S246F;ENSP00000377674:S246F;ENSP00000450245:S246F;ENSP00000377668:S246F	ENSP00000266971:S246F	S	+	2	0	SUOX	54684177	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	7.162000	0.77515	2.727000	0.93392	0.591000	0.81541	TCC	-	pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom		0.517	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	protein_coding	OTTHUMT00000250309.1	C	NM_000456	-		56397910	1	no_errors	ENST00000266971	ensembl	human	known	74_37	missense	SNP	0.992	T	T	56397910	C	T	56397910	3	4	196	1	0	0	0	0	1	0	0	0	15402	855	30	2	747	2	SUOX	12	56397910	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	366966	56397910	77453985	1508	14780											
RNF41	10193	genome.wustl.edu	37	chr12	56600344	56600344	+	Missense_Mutation	SNP	G	G	A													gacaacagcctgcttgccagGgatgcgcttggccacgtagt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56600344G>A	ENST00000345093.4	-	7	1210	c.841C>T	c.(841-843)Cct>Tct	p.P281S	RNF41_ENST00000552656.1_Missense_Mutation_p.P281S|RNF41_ENST00000394013.2_Missense_Mutation_p.P210S	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	281					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TGCTTGCCAGGGATGCGCTTG	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000181852						193	149	164					12																	56600344		2203	4300	6503	RNF41	SO:0001583	missense	0			-	HGNC	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.841C>T	12.37:g.56600344G>A	ENSP00000342755:p.Pro281Ser	Somatic	0	45	0	1016	0.52429534266604	21	30	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP							pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.P281S	ENST00000345093.4	37	c.841	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000399	0.93227	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.10288	2.89;2.89	5.21	5.21	0.72293	USP8 interacting (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.96;0.974	T	0.00875	-1.1531	10	0.49607	T	0.09	.	17.9232	0.88973	0.0:0.0:1.0:0.0	.	268;281	B4E353;Q9H4P4	.;RNF41_HUMAN	S	281;210;268;281	ENSP00000342755:P281S;ENSP00000447303:P281S	ENSP00000342755:P281S	P	-	1	0	RNF41	54886611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.917000	0.87498	2.606000	0.88127	0.655000	0.94253	CCT	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	protein_coding	OTTHUMT00000408525.1	G	NM_005785	-		56600344	-1	no_errors	ENST00000345093	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56600344	G	A	56600344	3	1	196	1	0	0	0	0	1	0	0	0	13502	1232	43	2	116	2	RNF41	12	56600344	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	202434	56600344	77251551	1509	14781	317	2									
RNF41	10193	genome.wustl.edu	37	chr12	56600345	56600345	+	Silent	SNP	G	G	A													acaacagcctgcttgccaggGatgcgcttggccacgtagtt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56600345G>A	ENST00000345093.4	-	7	1209	c.840C>T	c.(838-840)atC>atT	p.I280I	RNF41_ENST00000552656.1_Silent_p.I280I|RNF41_ENST00000394013.2_Silent_p.I209I	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	280					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						GCTTGCCAGGGATGCGCTTGG	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000181852						193	149	164					12																	56600345		2203	4300	6503	RNF41	SO:0001819	synonymous_variant	0			-	HGNC	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.840C>T	12.37:g.56600345G>A		Somatic	0	47	0	1016	0.52429534266604	20	31.03	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	29.41	A6NFW0|B2RBT8|O75598	Silent	SNP							pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.I280	ENST00000345093.4	37	c.840	CCDS8909.1	12																																																																																			-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	protein_coding	OTTHUMT00000408525.1	G	NM_005785	-		56600345	-1	no_errors	ENST00000345093	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56600345	G	A	56600345	2	1	196	1	0	0	0	0	0	0	0	1	13502	1164	41	2		2	RNF41	12	56600345	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	56600345	77251550	1510	14782	317	2									
STAT2	6773	genome.wustl.edu	37	chr12	56740715	56740715	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagccggcgctcctggctCcgactcacaaagcccatgat	10	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56740715C>T	ENST00000314128.4	-	20	1772	c.1749G>A	c.(1747-1749)cgG>cgA	p.R583R	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.R579R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	583	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCTCCTGGCTCCGACTCACAA	0.622																																																	0								ENSG00000170581						74	64	67					12																	56740715		2203	4300	6503	STAT2	SO:0001819	synonymous_variant	0			-	HGNC	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1749G>A	12.37:g.56740715C>T		Somatic	0	42	0		0.52429534266604	16	30.43	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R583	ENST00000314128.4	37	c.1749	CCDS8917.1	12																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2		0.622	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	protein_coding	OTTHUMT00000410277.1	C	NM_005419	-		56740715	-1	no_errors	ENST00000314128	ensembl	human	known	74_37	silent	SNP	0.735	T	T	56740715	C	T	56740715	2	4	196	1	0	0	0	0	0	0	0	1	15272	842	30	2		2	STAT2	12	56740715	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	140370	56740715	77111180	1511	14783											
APOF	319	genome.wustl.edu	37	chr12	56755347	56755347	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatctatggccccatctcGgcctcgttccctggccttgc	9	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56755347G>A	ENST00000398189.3	-	2	720	c.643C>T	c.(643-645)Cga>Tga	p.R215*	APOF_ENST00000541105.1_Nonsense_Mutation_p.R197*|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	215					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCATCTCGGCCTCGTTCC	0.552																																																	0								ENSG00000175336						62	63	63					12																	56755347		1964	4154	6118	APOF	SO:0001587	stop_gained	0			-	HGNC	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.643C>T	12.37:g.56755347G>A	ENSP00000381250:p.Arg215*	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	52	21.21	Q8TC13	Nonsense_Mutation	SNP							NULL	p.R215*	ENST00000398189.3	37	c.643	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944304	0.92593	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	.	.	.	5.4	4.49	0.54785	.	1.274000	0.06119	N	0.668495	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0193	12.8767	0.57994	0.0:0.0:0.8367:0.1633	.	.	.	.	X	215;197	.	ENSP00000381250:R215X	R	-	1	2	APOF	55041614	0.995000	0.38212	0.994000	0.49952	0.882000	0.50991	0.726000	0.25984	1.391000	0.46566	0.655000	0.94253	CGA	-	NULL		0.552	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	protein_coding	OTTHUMT00000410076.1	G		-		56755347	-1	no_errors	ENST00000398189	ensembl	human	known	74_37	nonsense	SNP	0.975	A	A	56755347	G	A	56755347	4	1	196	1	0	0	0	0	0	1	0	0	803	1124	39	1	341	1	APOF	12	56755347	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	14632	56755347	77096548	1512	14784											
APOF	319	genome.wustl.edu	37	chr12	56755634	56755634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggatgaggacctgtgtaGcattcacaccaccctggcgg	13	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56755634G>A	ENST00000398189.3	-	2	433	c.356C>T	c.(355-357)gCt>gTt	p.A119V	APOF_ENST00000541105.1_Missense_Mutation_p.A101V|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	119					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GACCTGTGTAGCATTCACACC	0.557																																																	0								ENSG00000175336						66	66	66					12																	56755634		2081	4236	6317	APOF	SO:0001583	missense	0			-	HGNC	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"Apolipoproteins"	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.356C>T	12.37:g.56755634G>A	ENSP00000381250:p.Ala119Val	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	24	42.86	Q8TC13	Missense_Mutation	SNP							NULL	p.A119V	ENST00000398189.3	37	c.356	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375512	0.82682	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.52983	0.64;0.64	4.87	4.87	0.63330	.	0.418224	0.17735	N	0.163779	T	0.64571	0.2610	L	0.57536	1.79	0.27476	N	0.952732	D	0.89917	1.0	D	0.91635	0.999	T	0.57923	-0.7727	10	0.72032	D	0.01	-5.695	13.7331	0.62802	0.0:0.0:1.0:0.0	.	119	Q13790	APOF_HUMAN	V	119;101	ENSP00000381250:A119V;ENSP00000440997:A101V	ENSP00000381250:A119V	A	-	2	0	APOF	55041901	0.550000	0.26489	0.571000	0.28486	0.922000	0.55478	2.318000	0.43779	2.717000	0.92951	0.655000	0.94253	GCT	-	NULL		0.557	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	protein_coding	OTTHUMT00000410076.1	G		-		56755634	-1	no_errors	ENST00000398189	ensembl	human	known	74_37	missense	SNP	0.589	A	A	56755634	G	A	56755634	3	1	196	1	0	0	0	0	1	0	0	0	803	971	34	2	628	2	APOF	12	56755634	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	287	56755634	77096261	1513	14785											
BAZ2A	11176	genome.wustl.edu	37	chr12	57005382	57005382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggaggggaagacgaacttCttctggggtagcaatacgtc	14	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57005382C>T	ENST00000551812.1	-	7	1844	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	BAZ2A_ENST00000549884.1_Missense_Mutation_p.E549K|BAZ2A_ENST00000179765.5_Missense_Mutation_p.E519K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E521K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	551	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGACGAACTTCTTCTGGGGTA	0.423																																																	0								ENSG00000076108						89	83	85					12																	57005382		1893	4129	6022	BAZ2A	SO:0001583	missense	0			-	HGNC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1651G>A	12.37:g.57005382C>T	ENSP00000446880:p.Glu551Lys	Somatic	0	100	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	72	45.04	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E551K	ENST00000551812.1	37	c.1651	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369703	0.82573	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93	4.84	4.84	0.62591	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.061484	0.64402	D	0.000004	D	0.99013	0.9663	L	0.36672	1.1	0.43203	D	0.995052	D;D	0.69078	0.974;0.997	D;D	0.79108	0.969;0.992	D	0.98292	1.0514	10	0.72032	D	0.01	.	13.0302	0.58837	0.0:0.8375:0.1624:0.0	.	549;551	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	K	521;519;551;549	ENSP00000368754:E521K;ENSP00000179765:E519K;ENSP00000446880:E551K;ENSP00000447941:E549K	ENSP00000179765:E519K	E	-	1	0	BAZ2A	55291649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.073000	0.50057	2.687000	0.91594	0.462000	0.41574	GAA	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd		0.423	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	C	NM_013449	-		57005382	-1	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57005382	C	T	57005382	3	4	196	1	0	0	0	0	1	0	0	0	1331	922	32	2	4158	2	BAZ2A	12	57005382	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	249748	57005382	76846513	1514	14786											
NACA	4666	genome.wustl.edu	37	chr12	57113564	57113564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagggtggcttcaggagaaaGaggtatctctggagaagagg	17	4	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57113564G>A	ENST00000454682.1	-	3	2031	c.1750C>T	c.(1750-1752)Ctt>Ttt	p.L584F	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.L584F	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	584	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCAGGAGAAAGAGGTATCTCT	0.502			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0								ENSG00000196531						53	53	53					12																	57113564		1568	3582	5150	NACA	SO:0001583	missense	0			-	HGNC	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1750C>T	12.37:g.57113564G>A	ENSP00000403817:p.Leu584Phe	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	38	46.48		Missense_Mutation	SNP							pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.L584F	ENST00000454682.1	37	c.1750		12	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041267	0.35989	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.52754	0.65;0.73	2.6	2.6	0.31112	.	.	.	.	.	T	0.44030	0.1274	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.997;0.995	D;D	0.66351	0.921;0.943	T	0.27536	-1.0071	9	0.72032	D	0.01	.	8.9819	0.35970	0.0:0.0:1.0:0.0	.	584;584	E9PAV3;F8VU71	.;.	F	584	ENSP00000403817:L584F;ENSP00000448035:L584F	ENSP00000403817:L584F	L	-	1	0	NACA	55399831	0.148000	0.22702	0.470000	0.27216	0.266000	0.26442	1.631000	0.37092	1.194000	0.43101	0.449000	0.29647	CTT	-	NULL		0.502	NACA-201	KNOWN	basic	protein_coding	NACA	protein_coding		G	NM_005594	-		57113564	-1	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	SNP	0.185	A	A	57113564	G	A	57113564	3	1	196	1	0	0	0	0	1	0	0	0	10135	942	33	2	4514	2	NACA	12	57113564	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	108182	57113564	76738331	1515	14787											
INHBC	3626	genome.wustl.edu	37	chr12	57843514	57843514	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagagttttttgtggacttCcgtgagattggctggcacga	13	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57843514C>T	ENST00000309668.2	+	2	895	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	256					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TTGTGGACTTCCGTGAGATTG	0.567																																																	0								ENSG00000175189						93	82	86					12																	57843514		2203	4300	6503	INHBC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.768C>T	12.37:g.57843514C>T		Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	46	41.98	A1L3Y2	Silent	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.F256	ENST00000309668.2	37	c.768	CCDS8938.1	12																																																																																			-	pfam_TGF-b_C,smart_TGF-b_C		0.567	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	protein_coding	OTTHUMT00000406770.1	C	NM_005538	-		57843514	1	no_errors	ENST00000309668	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57843514	C	T	57843514	2	4	196	1	0	0	0	0	0	0	0	1	7745	854	30	2		2	INHBC	12	57843514	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	729950	57843514	76008381	1516	14788											
GLI1	2735	genome.wustl.edu	37	chr12	57859444	57859444	+	Missense_Mutation	SNP	G	G	A													gccgggaggaacccttggaaGgtgatatgtccagccccaac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57859444G>A	ENST00000228682.2	+	6	680	c.589G>A	c.(589-591)Ggt>Agt	p.G197S	GLI1_ENST00000543426.1_Missense_Mutation_p.G69S|GLI1_ENST00000546141.1_Missense_Mutation_p.G156S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	197					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCCTTGGAAGGTGATATGTC	0.557																																					Pancreas(157;841 1936 10503 41495 50368)												0								ENSG00000111087						81	70	73					12																	57859444		2203	4300	6503	GLI1	SO:0001583	missense	0			-	HGNC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.589G>A	12.37:g.57859444G>A	ENSP00000228682:p.Gly197Ser	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G197S	ENST00000228682.2	37	c.589	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618023	0.66787	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74315	-0.83;2.69;2.62;2.7;2.7	4.2	4.2	0.49525	.	0.000000	0.52532	D	0.000080	T	0.66086	0.2754	L	0.48642	1.525	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	T	0.61073	-0.7136	10	0.09843	T	0.71	.	15.826	0.78706	0.0:0.0:1.0:0.0	.	197	P08151	GLI1_HUMAN	S	69;69;197;156;156;69	ENSP00000436671:G69S;ENSP00000437607:G69S;ENSP00000228682:G197S;ENSP00000441006:G156S;ENSP00000434408:G156S	ENSP00000228682:G197S	G	+	1	0	GLI1	56145711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.145000	0.89625	2.344000	0.79699	0.591000	0.81541	GGT	-	NULL		0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	protein_coding	OTTHUMT00000394197.1	G	NM_005269	-		57859444	1	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57859444	G	A	57859444	3	1	196	1	0	0	0	0	1	0	0	0	6439	1000	35	2	607	2	GLI1	12	57859444	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	15930	57859444	75992451	1517	14789	318	2									
GLI1	2735	genome.wustl.edu	37	chr12	57859445	57859445	+	Missense_Mutation	SNP	G	G	A													ccgggaggaacccttggaagGtgatatgtccagccccaact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57859445G>A	ENST00000228682.2	+	6	681	c.590G>A	c.(589-591)gGt>gAt	p.G197D	GLI1_ENST00000543426.1_Missense_Mutation_p.G69D|GLI1_ENST00000546141.1_Missense_Mutation_p.G156D	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	197					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCTTGGAAGGTGATATGTCC	0.557																																					Pancreas(157;841 1936 10503 41495 50368)												0								ENSG00000111087						81	70	74					12																	57859445		2203	4300	6503	GLI1	SO:0001583	missense	0			-	HGNC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.590G>A	12.37:g.57859445G>A	ENSP00000228682:p.Gly197Asp	Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G197D	ENST00000228682.2	37	c.590	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095406	0.56075	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74106	-0.81;2.68;2.6;2.67;2.67	4.2	4.2	0.49525	.	0.000000	0.52532	D	0.000080	T	0.66867	0.2833	L	0.48642	1.525	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.62258	-0.6892	10	0.19147	T	0.46	.	15.826	0.78706	0.0:0.0:1.0:0.0	.	197	P08151	GLI1_HUMAN	D	69;69;197;156;156;69	ENSP00000436671:G69D;ENSP00000437607:G69D;ENSP00000228682:G197D;ENSP00000441006:G156D;ENSP00000434408:G156D	ENSP00000228682:G197D	G	+	2	0	GLI1	56145712	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.385000	0.73182	2.344000	0.79699	0.591000	0.81541	GGT	-	NULL		0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	protein_coding	OTTHUMT00000394197.1	G	NM_005269	-		57859445	1	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57859445	G	A	57859445	3	1	196	1	0	0	0	0	1	0	0	0	6439	1261	44	2	608	2	GLI1	12	57859445	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	57859445	75992450	1518	14790	318	2									
MBD6	114785	genome.wustl.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57921401delC	ENST00000355673.3	+	8	2550	c.2194delC	c.(2194-2196)cccfs	p.P733fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	733	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAGGGAGACCCCCCCAACT	0.602																																																	0								ENSG00000166987						72	82	78					12																	57921401		2203	4300	6503	MBD6	SO:0001589	frameshift_variant	0				HGNC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2194delC	12.37:g.57921401delC	ENSP00000347896:p.Pro733fs	Somatic	0	45	0		0.52429534266604	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL							superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.Q734fs	ENST00000355673.3	37	c.2194	CCDS8944.1	12																																																																																			-	NULL		0.602	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	protein_coding	OTTHUMT00000407250.1	C				57921401	1	no_errors	ENST00000355673	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	57921401	C	-	57921401	7	5	196	1	0	1	0	1	0	0	0	0	9350	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-QC-A7B5-01A-11D-A33E-09	61956	57921401	75930494	1519	14791											
AGAP2	116986	genome.wustl.edu	37	chr12	58127883	58127883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcagctgcccatggagaCggctcacagcctggaaactg	11	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:58127883C>T	ENST00000547588.1	-	5	1474	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	AGAP2_ENST00000257897.3_Missense_Mutation_p.R156H	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCATGGAGACGGCTCACAGC	0.597																																																	0								ENSG00000135439						63	52	56					12																	58127883		2203	4300	6503	AGAP2	SO:0001583	missense	0			-	HGNC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1475G>A	12.37:g.58127883C>T	ENSP00000449241:p.Arg492His	Somatic	0	55	0		0.52429534266604	4	50	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	33	45.90	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.R492H	ENST00000547588.1	37	c.1475	CCDS44932.1	12	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934360	0.34096	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.22945	1.93;1.93	5.43	2.56	0.30785	Mitochondrial Rho-like (1);	0.401538	0.26092	N	0.026393	T	0.10423	0.0255	N	0.04705	-0.18	0.28783	N	0.899722	B;B;B	0.22414	0.069;0.019;0.024	B;B;B	0.22152	0.011;0.022;0.038	T	0.25328	-1.0135	10	0.18710	T	0.47	.	7.1402	0.25552	0.0:0.6588:0.0:0.3412	.	156;492;492	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	H	156;492	ENSP00000257897:R156H;ENSP00000449241:R492H	ENSP00000257897:R156H	R	-	2	0	AGAP2	56414150	0.285000	0.24296	1.000000	0.80357	0.959000	0.62525	2.573000	0.46007	0.766000	0.33244	0.561000	0.74099	CGT	-	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.597	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	protein_coding	OTTHUMT00000408367.1	C	NM_014770	-		58127883	-1	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	SNP	0.995	T	T	58127883	C	T	58127883	3	4	196	1	0	0	0	0	1	0	0	0	368	536	19	1	2163	1	AGAP2	12	58127883	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	206482	58127883	75724012	1520	14792											
FAM19A2	338811	genome.wustl.edu	37	chr12	62148676	62148676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacatgatggagcagctCgcgtggtgcctgccacctgc	12	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:62148676C>T	ENST00000416284.3	-	3	1820	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R79Q|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGAGCAGCTCGCGTGGTGCC	0.502																																																	0								ENSG00000198673						168	115	133					12																	62148676		2203	4300	6503	FAM19A2	SO:0001583	missense	0			-	HGNC	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.236G>A	12.37:g.62148676C>T	ENSP00000393987:p.Arg79Gln	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	13.73	B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP							pfam_Chemokine-like_FAM19A2	p.R79Q	ENST00000416284.3	37	c.236	CCDS8962.1	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701630	0.88924	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.77791	0.4183	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.78949	-0.2002	8	.	.	.	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	79	Q8N3H0	F19A2_HUMAN	Q	79;79;80;86;80	.	.	R	-	2	0	FAM19A2	60434943	1.000000	0.71417	0.960000	0.40013	0.485000	0.33311	7.752000	0.85141	2.455000	0.83008	0.558000	0.71614	CGA	-	pfam_Chemokine-like_FAM19A2		0.502	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A2	protein_coding	OTTHUMT00000407967.2	C	NM_178539	-		62148676	-1	no_errors	ENST00000416284	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62148676	C	T	62148676	3	4	196	1	0	0	0	0	1	0	0	0	5534	884	31	1	171	1	FAM19A2	12	62148676	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4020793	62148676	71703219	1521	14793											
TMBIM4	51643	genome.wustl.edu	37	chr12	66531763	66531763	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttttattaactgcttccaGaaaccgtaacaggtgcagga	8	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:66531763G>A	ENST00000358230.3	-	7	814	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000542724.1_Silent_p.L201L|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000544599.1_Silent_p.L55L|TMBIM4_ENST00000286424.7_Silent_p.L279L	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	232					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACTGCTTCCAGAAACCGTAAC	0.353																																																	0								ENSG00000155957						108	103	104					12																	66531763		1858	4090	5948	TMBIM4	SO:0001819	synonymous_variant	0			-	HGNC	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.694C>T	12.37:g.66531763G>A		Somatic	0	66	0		0.52429534266604	346	37.25	206	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	43	31.75	Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP							pfam_Bax_inhibitor_1-related	p.L232	ENST00000358230.3	37	c.694	CCDS41805.1	12																																																																																			-	pfam_Bax_inhibitor_1-related		0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	protein_coding	OTTHUMT00000401832.2	G	NM_016056	-		66531763	-1	no_errors	ENST00000358230	ensembl	human	known	74_37	silent	SNP	0.449	A	A	66531763	G	A	66531763	2	1	196	1	0	0	0	0	0	0	0	1	15989	933	33	2		2	TMBIM4	12	66531763	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4383087	66531763	67320132	1522	14794											
CAND1	55832	genome.wustl.edu	37	chr12	67686409	67686409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgtattacagtcttggtCctttagtgagtaaagtgaaa	9	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:67686409C>T	ENST00000545606.1	+	3	657	c.220C>T	c.(220-222)Cct>Tct	p.P74S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	74					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)		CAGTCTTGGTCCTTTAGTGAG	0.333																																																	0								ENSG00000111530						74	73	73					12																	67686409		2203	4300	6503	CAND1	SO:0001583	missense	0			-	HGNC		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.220C>T	12.37:g.67686409C>T	ENSP00000442318:p.Pro74Ser	Somatic	0	54	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.P74S	ENST00000545606.1	37	c.220	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572060	0.86542	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540525	T;T	0.05447	3.44;3.44	5.09	5.09	0.68999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.91140	3.18	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.21211	-1.0252	9	.	.	.	-13.2488	18.5234	0.90962	0.0:1.0:0.0:0.0	.	74	Q86VP6	CAND1_HUMAN	S	74;74;50	ENSP00000442318:P74S;ENSP00000437594:P50S	.	P	+	1	0	CAND1	65972676	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.786000	0.85741	2.373000	0.80994	0.655000	0.94253	CCT	-	pfam_HEAT,superfamily_ARM-type_fold		0.333	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	C	NM_018448	-		67686409	1	no_errors	ENST00000545606	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67686409	C	T	67686409	3	4	196	1	0	0	0	0	1	0	0	0	2617	855	30	2	230	2	CAND1	12	67686409	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1154646	67686409	66165486	1523	14795											
BEST3	144453	genome.wustl.edu	37	chr12	70048991	70048991	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattttcctcagcgctggctGaaactgtctggggactgggg	14	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:70048991G>A	ENST00000330891.5	-	10	1929	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	BEST3_ENST00000553096.1_Missense_Mutation_p.S462L|BEST3_ENST00000488961.1_Missense_Mutation_p.S355L|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	568					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCGCTGGCTGAAACTGTCTG	0.552																																																	0								ENSG00000127325						42	43	42					12																	70048991		1853	4096	5949	BEST3	SO:0001583	missense	0			-	HGNC	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1703C>T	12.37:g.70048991G>A	ENSP00000332413:p.Ser568Leu	Somatic	0	39	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP							pfam_Bestrophin/UPF0187	p.S568L	ENST00000330891.5	37	c.1703	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654476	0.29425	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97850	-4.25;-4.57;-4.54	5.11	4.23	0.50019	.	1.664750	0.03225	N	0.178091	D	0.94729	0.8299	L	0.32530	0.975	0.09310	N	0.999992	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	D	0.85728	0.1329	10	0.12103	T	0.63	1.6504	7.3081	0.26459	0.0919:0.1703:0.7378:0.0	.	568;355	Q8N1M1;B5MDI8	BEST3_HUMAN;.	L	355;568;462	ENSP00000433213:S355L;ENSP00000332413:S568L;ENSP00000449548:S462L	ENSP00000332413:S568L	S	-	2	0	BEST3	68335258	0.002000	0.14202	0.009000	0.14445	0.015000	0.08874	1.200000	0.32247	1.155000	0.42497	0.563000	0.77884	TCA	-	NULL		0.552	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	protein_coding	OTTHUMT00000313908.2	G	NM_152439	-		70048991	-1	no_errors	ENST00000330891	ensembl	human	known	74_37	missense	SNP	0.004	A	A	70048991	G	A	70048991	3	1	196	1	0	0	0	0	1	0	0	0	1406	1294	45	2	307	2	BEST3	12	70048991	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2362582	70048991	63802904	1524	14796											
PTPRR	5801	genome.wustl.edu	37	chr12	71155319	71155319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacattgatattaagtgaacGaagaacttcctcagagggca	9	7	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:71155319G>A	ENST00000283228.2	-	4	1011	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	PTPRR_ENST00000342084.4_Missense_Mutation_p.R75C	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	187					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTAAGTGAACGAAGAACTTCC	0.368																																																	0								ENSG00000153233						144	141	142					12																	71155319		2203	4300	6503	PTPRR	SO:0001583	missense	0			-	HGNC	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.559C>T	12.37:g.71155319G>A	ENSP00000283228:p.Arg187Cys	Somatic	0	96	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	69	36.11	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP							pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R187C	ENST00000283228.2	37	c.559	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875566	0.72180	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.40756	1.02;1.02	5.48	4.6	0.57074	.	0.155280	0.30510	U	0.009471	T	0.41096	0.1144	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53861	0.736;0.549	T	0.36335	-0.9752	10	0.72032	D	0.01	-6.338	10.0152	0.42010	0.0716:0.0:0.791:0.1374	.	75;187	F5GXR7;Q15256	.;PTPRR_HUMAN	C	187;75	ENSP00000283228:R187C;ENSP00000339605:R75C	ENSP00000283228:R187C	R	-	1	0	PTPRR	69441586	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	6.064000	0.71169	1.327000	0.45338	0.448000	0.29417	CGT	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5		0.368	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	protein_coding	OTTHUMT00000404485.1	G	NM_002849	-		71155319	-1	no_errors	ENST00000283228	ensembl	human	known	74_37	missense	SNP	0.951	A	A	71155319	G	A	71155319	3	1	196	1	0	0	0	0	1	0	0	0	12818	1058	37	1	1458	1	PTPRR	12	71155319	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1106328	71155319	62696576	1525	14797											
TPH2	121278	genome.wustl.edu	37	chr12	72338446	72338446	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagttctcatgtatggttctGagcttgatgctgaccaccca	10	10	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:72338446G>A	ENST00000333850.3	+	4	661	c.520G>A	c.(520-522)Gag>Aag	p.E174K	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	174					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTATGGTTCTGAGCTTGATGC	0.483																																																	0								ENSG00000139287						152	149	150					12																	72338446		2203	4300	6503	TPH2	SO:0001583	missense	0			-	HGNC	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.520G>A	12.37:g.72338446G>A	ENSP00000329093:p.Glu174Lys	Somatic	0	22	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	A6NGA4|Q14CB0	Missense_Mutation	SNP							pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.E174K	ENST00000333850.3	37	c.520	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.189707	0.94923	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99656	-6.31	5.83	5.83	0.93111	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	M	0.90309	3.105	0.80722	D	1	P	0.51057	0.941	P	0.55161	0.77	D	0.98391	1.0563	10	0.87932	D	0	-25.8551	20.1184	0.97949	0.0:0.0:1.0:0.0	.	174	Q8IWU9	TPH2_HUMAN	K	174	ENSP00000329093:E174K	ENSP00000266669:E174K	E	+	1	0	TPH2	70624713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.775000	0.95449	0.650000	0.86243	GAG	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.483	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	protein_coding	OTTHUMT00000405234.1	G	NM_173353	-		72338446	1	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72338446	G	A	72338446	3	1	196	1	0	0	0	0	1	0	0	0	16409	1291	45	2	534	2	TPH2	12	72338446	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1183127	72338446	61513449	1526	14798											
NAV3	89795	genome.wustl.edu	37	chr12	78553058	78553058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtctaactatgacagcgGaacaaaaggtatgttcagaa	9	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:78553058G>A	ENST00000397909.2	+	23	5034	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K	NAV3_ENST00000536525.2_Missense_Mutation_p.E1621K|NAV3_ENST00000228327.6_Missense_Mutation_p.E1621K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1444K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1621						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATGACAGCGGAACAAAAGGT	0.378										HNSCC(70;0.22)																																							0								ENSG00000067798						103	95	98					12																	78553058		1864	4105	5969	NAV3	SO:0001583	missense	0			-	HGNC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4861G>A	12.37:g.78553058G>A	ENSP00000381007:p.Glu1621Lys	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	42	40.85	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP							pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1621K	ENST00000397909.2	37	c.4861		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.291879|4.291879	0.80914|0.80914	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.94232|.	-3.38;-3.38;-3.38;-3.38;-3.38|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40818|.	U|.	0.001009|.	T|T	0.78381|0.78381	0.4274|0.4274	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.71674|.	0.754;0.996;0.583;0.998|.	B;D;B;D|.	0.78314|.	0.41;0.987;0.118;0.991|.	T|T	0.77816|0.77816	-0.2447|-0.2447	10|5	0.87932|.	D|.	0|.	-22.2012|-22.2012	19.6223|19.6223	0.95663|0.95663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1621;1444;1621;1621|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	K|E	1621;1621;1621;1444;242;250|515	ENSP00000446132:E1621K;ENSP00000381007:E1621K;ENSP00000228327:E1621K;ENSP00000266692:E1444K;ENSP00000448303:E250K|.	ENSP00000228327:E1621K|.	E|G	+|+	1|2	0|0	NAV3|NAV3	77077189|77077189	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.997000|0.997000	0.91878|0.91878	9.063000|9.063000	0.93927|0.93927	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAA|GGA	-	NULL		0.378	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	G	NM_001024383	-		78553058	1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78553058	G	A	78553058	3	1	196	1	0	0	0	0	1	0	0	0	10187	1175	41	2	4951	2	NAV3	12	78553058	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6214612	78553058	55298837	1527	14799											
PPFIA2	8499	genome.wustl.edu	37	chr12	81741332	81741332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgtcatgactcccatccGatccatttccctggcagggc	9	15	1	1	rs369038632		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:81741332G>A	ENST00000549396.1	-	18	2372	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	PPFIA2_ENST00000548586.1_Missense_Mutation_p.R738W|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R305W|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R585W|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R664W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R720W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R720W|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R639W|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R738W|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R738W	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	738					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTCCCATCCGATCCATTTCC	0.493																																																	0								ENSG00000139220	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,	0,3942		0,0,1971	136	137	137		2212,2158,2212,2212,1990,1915,913,2212,	3.7	1	12		137	1,8315		0,1,4157	no	missense,missense,missense,missense,missense,missense,missense,missense,intron	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_003625.3,NM_001220480.1	101,101,101,101,101,101,101,101,	0,1,6128	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	738/1248,720/1233,738/1237,738/1252,664/1157,639/1153,305/784,738/1258,	81741332	1,12257	1971	4158	6129	PPFIA2	SO:0001583	missense	0			-	HGNC	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2212C>T	12.37:g.81741332G>A	ENSP00000450337:p.Arg738Trp	Somatic	0	59	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R738W	ENST00000549396.1	37	c.2212	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111049	0.77210	0.0	1.2E-4	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.25749	2.11;2.11;1.79;1.79;2.11;2.11;1.78;2.11	5.51	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55302	-0.8162	10	0.72032	D	0.01	-13.4321	14.6998	0.69147	0.0:0.0:0.6051:0.3949	.	738	O75334	LIPA2_HUMAN	W	738;720;305;664;749;720;738;639;738	ENSP00000450337:R738W;ENSP00000450298:R720W;ENSP00000438337:R305W;ENSP00000385093:R664W;ENSP00000327416:R720W;ENSP00000449338:R738W;ENSP00000388373:R639W;ENSP00000447868:R738W	ENSP00000327416:R720W	R	-	1	2	PPFIA2	80265463	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.448000	0.60027	0.771000	0.33359	-0.175000	0.13238	CGG	-	NULL		0.493	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	protein_coding	OTTHUMT00000408030.1	G		-		81741332	-1	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	SNP	1.000	A	A	81741332	G	A	81741332	3	1	196	1	0	0	0	0	1	0	0	0	12312	1057	37	1	1621	1	PPFIA2	12	81741332	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3188274	81741332	52110563	1528	14800											
CCDC59	29080	genome.wustl.edu	37	chr12	82752088	82752088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattcctgtacccgacagtgGaaaccccttcaccacgcgcc	7	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:82752088G>A	ENST00000256151.7	-	1	479	c.68C>T	c.(67-69)tCc>tTc	p.S23F	CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000248306.3_5'Flank	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CCCGACAGTGGAAACCCCTTC	0.597											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000133773						60	56	57					12																	82752088		2203	4300	6503	CCDC59	SO:0001583	missense	0			-	HGNC	AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.68C>T	12.37:g.82752088G>A	ENSP00000256151:p.Ser23Phe	Somatic	0	54	0	1216	0.52429534266604	24	33.33	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	Q9H2V5|Q9NW62	Missense_Mutation	SNP							pfam_rRNA_processing,prints_rRNA_processing	p.S23F	ENST00000256151.7	37	c.68	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662459	0.67700	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	4.85	4.85	0.62838	.	0.963848	0.08625	N	0.917812	T	0.52386	0.1731	L	0.36672	1.1	0.09310	N	1	D	0.58970	0.984	P	0.57371	0.819	T	0.48703	-0.9012	9	0.48119	T	0.1	-24.3686	14.9042	0.70706	0.0:0.0:1.0:0.0	.	23	Q9P031	TAP26_HUMAN	F	23	.	ENSP00000256151:S23F	S	-	2	0	CCDC59	81276219	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.547000	0.23299	2.246000	0.74042	0.585000	0.79938	TCC	-	prints_rRNA_processing		0.597	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	protein_coding	OTTHUMT00000408186.1	G	NM_014167	-		82752088	-1	no_errors	ENST00000256151	ensembl	human	known	74_37	missense	SNP	0.015	A	A	82752088	G	A	82752088	3	1	196	1	0	0	0	0	1	0	0	0	2831	1174	41	2	673	2	CCDC59	12	82752088	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1010756	82752088	51099807	1529	14801											
TMTC2	160335	genome.wustl.edu	37	chr12	83250830	83250830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccttctcccagaaactcCatggacgcacattttctaca	6	14	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:83250830C>T	ENST00000321196.3	+	2	832	c.125C>T	c.(124-126)cCa>cTa	p.P42L	TMTC2_ENST00000549919.1_Missense_Mutation_p.P36L|TMTC2_ENST00000548305.1_Missense_Mutation_p.P42L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	42					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CCAGAAACTCCATGGACGCAC	0.408																																																	0								ENSG00000179104						124	133	130					12																	83250830		2203	4300	6503	TMTC2	SO:0001583	missense	0			-	HGNC	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.125C>T	12.37:g.83250830C>T	ENSP00000322300:p.Pro42Leu	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	18	58.14	B2RCU7|Q8N2K8	Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P42L	ENST00000321196.3	37	c.125	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980615	0.92982	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.64803	0.52;-0.12;-0.03	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.89601	3.045	0.80722	D	1	D;P	0.71674	0.998;0.875	D;P	0.74674	0.984;0.729	D	0.85672	0.1295	10	0.87932	D	0	-13.3717	19.0404	0.92997	0.0:1.0:0.0:0.0	.	42;42	Q8N394;F8VSH2	TMTC2_HUMAN;.	L	42;42;36	ENSP00000322300:P42L;ENSP00000448292:P42L;ENSP00000447609:P36L	ENSP00000322300:P42L	P	+	2	0	TMTC2	81774961	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCA	-	NULL		0.408	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	protein_coding	OTTHUMT00000405663.1	C	NM_152588	-		83250830	1	no_errors	ENST00000321196	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83250830	C	T	83250830	3	4	196	1	0	0	0	0	1	0	0	0	16268	594	21	2	131	2	TMTC2	12	83250830	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	498742	83250830	50601065	1530	14802											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85460656	85460656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcttgaactttcatAtaataaaattactcgaattg	5	6	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:85460656A>G	ENST00000393217.2	+	10	2736	c.2675A>G	c.(2674-2676)tAt>tGt	p.Y892C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	892										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAACTTTCATATAATAAAATT	0.254																																																	0								ENSG00000133640						47	48	47					12																	85460656		2201	4288	6489	LRRIQ1	SO:0001583	missense	0			-	HGNC	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2675A>G	12.37:g.85460656A>G	ENSP00000376910:p.Tyr892Cys	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	49	37.97	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.Y892C	ENST00000393217.2	37	c.2675	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249266	0.39797	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25414	1.8	5.44	4.29	0.51040	.	0.325791	0.28809	N	0.014079	T	0.23572	0.0570	L	0.53617	1.68	0.18873	N	0.999988	P;P	0.51791	0.948;0.833	B;B	0.39185	0.293;0.293	T	0.11916	-1.0568	10	0.49607	T	0.09	.	11.701	0.51571	0.93:0.0:0.07:0.0	.	892;867	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	892;867;892	ENSP00000376910:Y892C	ENSP00000256007:Y892C	Y	+	2	0	LRRIQ1	83984787	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.168000	0.58216	0.995000	0.38917	0.460000	0.39030	TAT	-	NULL		0.254	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	A	NM_032165	-		85460656	1	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	SNP	1.000	G	G	85460656	A	G	85460656	3	3	196	1	0	0	0	0	1	0	0	0	9031	449	16	5	2709	5	LRRIQ1	12	85460656	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2209826	85460656	48391239	1531	14803											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85492693	85492693	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taagagaattgcacttggatGataacagcatttcaactgtg	9	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:85492693G>A	ENST00000393217.2	+	13	3191	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1044										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCACTTGGATGATAACAGCAT	0.294																																																	0								ENSG00000133640						93	95	94					12																	85492693		2202	4292	6494	LRRIQ1	SO:0001583	missense	0			-	HGNC	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3130G>A	12.37:g.85492693G>A	ENSP00000376910:p.Asp1044Asn	Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	43	37.68	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.D1044N	ENST00000393217.2	37	c.3130	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619958	0.87460	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.22134	1.97	5.4	5.4	0.78164	.	0.167890	0.49305	D	0.000143	T	0.34571	0.0902	N	0.21545	0.675	0.37537	D	0.918154	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.28267	-1.0049	10	0.52906	T	0.07	.	17.9348	0.89009	0.0:0.0:1.0:0.0	.	1044;1019	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	1044;1019;1044	ENSP00000376910:D1044N	ENSP00000256007:D1044N	D	+	1	0	LRRIQ1	84016824	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.287000	0.65645	2.521000	0.84997	0.585000	0.79938	GAT	-	smart_Leu-rich_rpt_typical-subtyp		0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	G	NM_032165	-		85492693	1	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	SNP	1.000	A	A	85492693	G	A	85492693	3	1	196	1	0	0	0	0	1	0	0	0	9031	1290	45	2	3176	2	LRRIQ1	12	85492693	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	32037	85492693	48359202	1532	14804											
C12orf50	160419	genome.wustl.edu	37	chr12	88379735	88379735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcgacagtcctgacagcatCtctttgaacgtggatatagg	11	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:88379735C>T	ENST00000298699.2	-	11	1198	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	C12orf50_ENST00000550553.1_Missense_Mutation_p.D301N	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	340										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGACAGCATCTCTTTGAACG	0.478																																																	0								ENSG00000165805						216	206	209					12																	88379735		2203	4300	6503	C12orf50	SO:0001583	missense	0			-	HGNC	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1018G>A	12.37:g.88379735C>T	ENSP00000298699:p.Asp340Asn	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	60	16.67	Q6P674	Missense_Mutation	SNP							NULL	p.D340N	ENST00000298699.2	37	c.1018	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780415	0.49891	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34072	1.4;1.38	5.91	5.01	0.66863	.	0.273852	0.33346	N	0.005011	T	0.47581	0.1453	M	0.73962	2.25	0.28516	N	0.913324	P;P	0.45902	0.763;0.868	B;P	0.46758	0.382;0.526	T	0.53816	-0.8385	10	0.87932	D	0	.	14.2196	0.65818	0.0:0.8504:0.1496:0.0	.	355;340	G3V208;Q8NA57	.;CL050_HUMAN	N	340;301;355	ENSP00000298699:D340N;ENSP00000448344:D301N	ENSP00000298699:D340N	D	-	1	0	C12orf50	86903866	0.984000	0.35163	0.995000	0.50966	0.027000	0.11550	2.059000	0.41384	1.469000	0.48083	0.650000	0.86243	GAT	-	NULL		0.478	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	protein_coding	OTTHUMT00000406328.1	C	NM_152589	-		88379735	-1	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	SNP	0.997	T	T	88379735	C	T	88379735	3	4	196	1	0	0	0	0	1	0	0	0	1697	913	32	2	238	2	C12orf50	12	88379735	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2887042	88379735	45472160	1533	14805											
CEP290	80184	genome.wustl.edu	37	chr12	88474097	88474097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgactccttttgtgaCtggtccagaagatactttaa	8	9	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:88474097C>T	ENST00000552810.1	-	38	5431	c.5088G>A	c.(5086-5088)caG>caA	p.Q1696Q	CEP290_ENST00000309041.7_Silent_p.Q1698Q|CEP290_ENST00000547691.2_Silent_p.Q756Q|CEP290_ENST00000397838.3_Silent_p.Q756Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1696					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						CCTTTTGTGACTGGTCCAGAA	0.363																																																	0								ENSG00000198707						179	159	165					12																	88474097		1838	4084	5922	CEP290	SO:0001819	synonymous_variant	0			-	HGNC	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.5088G>A	12.37:g.88474097C>T		Somatic	0	53	0		0.52429534266604	4	42.86	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP							NULL	p.Q1698	ENST00000552810.1	37	c.5094	CCDS55858.1	12																																																																																			-	NULL		0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	C	NM_025114	-		88474097	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	silent	SNP	0.997	T	T	88474097	C	T	88474097	2	4	196	1	0	0	0	0	0	0	0	1	3255	564	20	2		2	CEP290	12	88474097	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	94362	88474097	45377798	1534	14806											
C12orf12	196477	genome.wustl.edu	37	chr12	91348286	91348286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttagagcacacgggtggTtggaaccaaaagcccgggcc	14	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:91348286T>C	ENST00000358859.2	-	1	667	c.234A>G	c.(232-234)caA>caG	p.Q78Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	78																	ACACGGGTGGTTGGAACCAAA	0.627																																																	0								ENSG00000197651						38	42	41					12																	91348286		2203	4300	6503	CCER1	SO:0001819	synonymous_variant	0			-	HGNC	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.234A>G	12.37:g.91348286T>C		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	Q8TC47	Silent	SNP							NULL	p.Q78	ENST00000358859.2	37	c.234	CCDS9036.1	12																																																																																			-	NULL		0.627	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	protein_coding	OTTHUMT00000407142.2	T	NM_152638	-		91348286	-1	no_errors	ENST00000358859	ensembl	human	known	74_37	silent	SNP	0.009	C	C	91348286	T	C	91348286	2	2	196	1	0	0	0	0	0	0	0	1	1678	1722	60	5		5	C12orf12	12	91348286	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2874189	91348286	42503609	1535	14807											
SOCS2	8835	genome.wustl.edu	37	chr12	93968915	93968915	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggactgcctttaccaacaaGactaaaagattacttggaag	9	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:93968915G>A	ENST00000340600.2	+	3	1155	c.557G>A	c.(556-558)aGa>aAa	p.R186K	SOCS2_ENST00000536696.2_Missense_Mutation_p.R186K|SOCS2_ENST00000549122.1_Missense_Mutation_p.R186K|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Missense_Mutation_p.R186K|SOCS2_ENST00000549206.1_Missense_Mutation_p.R186K	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	186	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TTACCAACAAGACTAAAAGAT	0.403																																																	0								ENSG00000120833						57	53	54					12																	93968915		2203	4300	6503	SOCS2	SO:0001583	missense	0			-	HGNC	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.557G>A	12.37:g.93968915G>A	ENSP00000339428:p.Arg186Lys	Somatic	0	55	0		0.52429534266604	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP							pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.R186K	ENST00000340600.2	37	c.557	CCDS9047.1	12	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797904	0.50208	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000549122;ENST00000551556	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.84	5.84	0.93424	SOCS protein, C-terminal (4);	0.041852	0.85682	N	0.000000	T	0.62938	0.2469	L	0.53780	1.695	0.58432	D	0.999998	P	0.46952	0.887	D	0.64410	0.925	T	0.50825	-0.8782	10	0.10377	T	0.69	-0.0349	20.1346	0.98019	0.0:0.0:1.0:0.0	.	186	O14508	SOCS2_HUMAN	K	186;186;186;134;186;186	ENSP00000339428:R186K;ENSP00000448815:R186K;ENSP00000442898:R186K;ENSP00000447161:R186K;ENSP00000449227:R186K	ENSP00000339428:R186K	R	+	2	0	SOCS2	92493046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.269000	0.72558	2.765000	0.95021	0.655000	0.94253	AGA	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.403	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	protein_coding	OTTHUMT00000407731.2	G		-		93968915	1	no_errors	ENST00000340600	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93968915	G	A	93968915	3	1	196	1	0	0	0	0	1	0	0	0	14922	942	33	2	563	2	SOCS2	12	93968915	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2620629	93968915	39882980	1536	14808											
CCDC38	120935	genome.wustl.edu	37	chr12	96310927	96310927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctattaatctaggaatcGgagcaggacctggcccaaac	9	11	2	0	rs542768194		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:96310927G>A	ENST00000344280.3	-	4	841	c.284C>T	c.(283-285)cCg>cTg	p.P95L	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	95										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTAGGAATCGGAGCAGGACC	0.388													G|||	1	0.000199681	0	0.0014	5008	,	,		16407	0		0	False		,,,				2504	0																0								ENSG00000165972						80	77	78					12																	96310927		2203	4300	6503	CCDC38	SO:0001583	missense	0			-	HGNC	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.284C>T	12.37:g.96310927G>A	ENSP00000345470:p.Pro95Leu	Somatic	0	121	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	73	41.13	Q8N835	Missense_Mutation	SNP							NULL	p.P95L	ENST00000344280.3	37	c.284	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.371863	0.00209	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.27557	1.66	5.54	4.33	0.51752	.	0.083607	0.46442	N	0.000288	T	0.11580	0.0282	N	0.02247	-0.625	0.21105	N	0.999784	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.23891	T	0.37	-6.5776	8.0622	0.30640	0.9095:0.0:0.0905:0.0	.	95	Q502W7	CCD38_HUMAN	L	95;55	ENSP00000345470:P95L	ENSP00000345470:P95L	P	-	2	0	CCDC38	94835058	0.100000	0.21855	0.013000	0.15412	0.000000	0.00434	2.551000	0.45820	1.105000	0.41606	-0.300000	0.09419	CCG	-	NULL		0.388	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	protein_coding	OTTHUMT00000408634.1	G	NM_182496	-		96310927	-1	no_errors	ENST00000344280	ensembl	human	known	74_37	missense	SNP	0.013	A	A	96310927	G	A	96310927	3	1	196	1	0	0	0	0	1	0	0	0	2812	1116	39	1	1459	1	CCDC38	12	96310927	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2342012	96310927	37540968	1537	14809											
FAM71C	196472	genome.wustl.edu	37	chr12	100042272	100042272	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtcctgccacccagaaaaGagaaagtccgcctgcagaga	11	12	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:100042272G>A	ENST00000324341.1	+	1	742	c.320G>A	c.(319-321)aGa>aAa	p.R107K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	107										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACCCAGAAAAGAGAAAGTCCG	0.527																																																	0								ENSG00000180219						78	81	80					12																	100042272		2203	4300	6503	FAM71C	SO:0001583	missense	0			-	HGNC		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.320G>A	12.37:g.100042272G>A	ENSP00000315247:p.Arg107Lys	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	B2R6Y6	Missense_Mutation	SNP							pfam_DUF3699	p.R107K	ENST00000324341.1	37	c.320	CCDS9072.1	12	.	.	.	.	.	.	.	.	.	.	G	0	-2.607402	0.00121	.	.	ENSG00000180219	ENST00000324341	T	0.08896	3.04	3.76	-3.41	0.04839	.	1.553540	0.03918	N	0.283019	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.41574	-0.9501	9	.	.	.	-0.3311	6.6217	0.22806	0.5257:0.1299:0.3444:0.0	.	107	Q8NEG0	FA71C_HUMAN	K	107	ENSP00000315247:R107K	.	R	+	2	0	FAM71C	98566403	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.126000	0.15769	-1.220000	0.02594	-2.590000	0.00165	AGA	-	NULL		0.527	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	protein_coding	OTTHUMT00000408458.1	G	NM_153364	-		100042272	1	no_errors	ENST00000324341	ensembl	human	known	74_37	missense	SNP	0.000	A	A	100042272	G	A	100042272	3	1	196	1	0	0	0	0	1	0	0	0	5611	942	33	2	322	2	FAM71C	12	100042272	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3731345	100042272	33809623	1538	14810											
NR1H4	9971	genome.wustl.edu	37	chr12	100934550	100934550	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagattttcaataagaaactTccgtctgggcattctgacct	8	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:100934550T>G	ENST00000551379.1	+	7	1090	c.1062T>G	c.(1060-1062)ctT>ctG	p.L354L	NR1H4_ENST00000549996.1_Silent_p.L293L|NR1H4_ENST00000392986.3_Silent_p.L344L|NR1H4_ENST00000188403.7_Silent_p.L350L|NR1H4_ENST00000548884.1_Silent_p.L340L			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	354	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	ATAAGAAACTTCCGTCTGGGC	0.398																																																	0								ENSG00000012504						162	155	157					12																	100934550		2203	4300	6503	NR1H4	SO:0001819	synonymous_variant	0			-	HGNC	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1062T>G	12.37:g.100934550T>G		Somatic	0	77	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	66	17.50	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.L354	ENST00000551379.1	37	c.1062	CCDS55876.1	12																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.398	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	protein_coding	OTTHUMT00000409140.1	T	NM_005123	-		100934550	1	no_errors	ENST00000551379	ensembl	human	known	74_37	silent	SNP	1.000	G	G	100934550	T	G	100934550	2	3	196	1	0	0	0	0	0	0	0	1	10621	1770	62	5		5	NR1H4	12	100934550	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	892278	100934550	32917345	1539	14811											
GNPTAB	79158	genome.wustl.edu	37	chr12	102160056	102160056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctgcaatatagcgActccctccactgtttcctgt	5	17	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:102160056A>G	ENST00000299314.7	-	12	1687	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	475	Gly-rich.				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						CAATATAGCGACTCCCTCCAC	0.488																																																	0								ENSG00000111670						108	99	102					12																	102160056		2203	4300	6503	GNPTAB	SO:0001819	synonymous_variant	0			-	HGNC	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.1425T>C	12.37:g.102160056A>G		Somatic	0	29	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	12	52.00	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP							pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.S475	ENST00000299314.7	37	c.1425	CCDS9088.1	12																																																																																			-	NULL		0.488	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	protein_coding	OTTHUMT00000409182.1	A		-		102160056	-1	no_errors	ENST00000299314	ensembl	human	known	74_37	silent	SNP	0.445	G	G	102160056	A	G	102160056	2	3	196	1	0	0	0	0	0	0	0	1	6547	272	10	5		5	GNPTAB	12	102160056	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1225506	102160056	31691839	1540	14812											
PAH	5053	genome.wustl.edu	37	chr12	103237521	103237521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggctgtcttctccagctCcagggggagaagctttggct	14	10	2	1	rs62516097		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:103237521C>T	ENST00000553106.1	-	11	1574	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	PAH_ENST00000307000.2_Missense_Mutation_p.E363K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	368			Missing (in PKU). {ECO:0000269|PubMed:1363837}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTCTCCAGCTCCAGGGGGAGA	0.463																																																	0								ENSG00000171759						96	94	94					12																	103237521		2203	4300	6503	PAH	SO:0001583	missense	0			-	HGNC	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1102G>A	12.37:g.103237521C>T	ENSP00000448059:p.Glu368Lys	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q16717|Q8TC14	Missense_Mutation	SNP							pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.E368K	ENST00000553106.1	37	c.1102	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805755	0.50421	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99656	-6.31;-6.31	5.24	5.24	0.73138	Aromatic amino acid hydroxylase, C-terminal (3);	0.398599	0.29775	N	0.011226	D	0.99023	0.9666	M	0.81802	2.56	0.58432	D	0.999999	B	0.23990	0.095	B	0.28553	0.091	D	0.98655	1.0681	10	0.87932	D	0	-9.5026	13.1729	0.59609	0.0:0.9232:0.0:0.0768	.	368	P00439	PH4H_HUMAN	K	368;363	ENSP00000448059:E368K;ENSP00000303500:E363K	ENSP00000303500:E363K	E	-	1	0	PAH	101761651	1.000000	0.71417	0.993000	0.49108	0.119000	0.20118	4.807000	0.62576	2.438000	0.82558	0.591000	0.81541	GAG	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra		0.463	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	protein_coding	OTTHUMT00000406692.1	C		-		103237521	-1	no_errors	ENST00000553106	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103237521	C	T	103237521	3	4	196	1	0	0	0	0	1	0	0	0	11396	864	30	2	268	2	PAH	12	103237521	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1077465	103237521	30614374	1541	14813											
HCFC2	29915	genome.wustl.edu	37	chr12	104495890	104495890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaatttaaaacttgtattCctggttttcctggagctcct	8	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:104495890C>T	ENST00000229330.4	+	14	2127	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	675	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AACTTGTATTCCTGGTTTTCC	0.398																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0								ENSG00000111727						137	134	135					12																	104495890		2203	4300	6503	HCFC2	SO:0001583	missense	0			-	HGNC	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2023C>T	12.37:g.104495890C>T	ENSP00000229330:p.Pro675Ser	Somatic	0	70	0		0.52429534266604	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34	B2R8Q5|C0H5X3	Missense_Mutation	SNP							pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P675S	ENST00000229330.4	37	c.2023	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859607	0.91433	.	.	ENSG00000111727	ENST00000229330	T	0.50813	0.73	5.19	5.19	0.71726	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.86343	2.81	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.79441	-0.1802	10	0.87932	D	0	-14.0994	19.0707	0.93134	0.0:1.0:0.0:0.0	.	675	Q9Y5Z7	HCFC2_HUMAN	S	675	ENSP00000229330:P675S	ENSP00000229330:P675S	P	+	1	0	HCFC2	103020020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.565000	0.86533	0.655000	0.94253	CCT	-	superfamily_Fibronectin_type3		0.398	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	protein_coding	OTTHUMT00000407780.1	C	NM_013320	-		104495890	1	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104495890	C	T	104495890	3	4	196	1	0	0	0	0	1	0	0	0	6995	855	30	2	2077	2	HCFC2	12	104495890	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1258369	104495890	29356005	1542	14814											
TXNRD1	7296	genome.wustl.edu	37	chr12	104714904	104714904	+	Missense_Mutation	SNP	A	A	T													cttgccttactgcccgggtaAgaccctggttgttggagcat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:104714904A>T	ENST00000529546.1	+	7	686	c.461A>T	c.(460-462)aAg>aTg	p.K154M	TXNRD1_ENST00000397736.2_Missense_Mutation_p.K236M|TXNRD1_ENST00000524698.1_Missense_Mutation_p.K192M|TXNRD1_ENST00000354940.6_Missense_Mutation_p.K192M|TXNRD1_ENST00000525566.1_Missense_Mutation_p.K342M|TXNRD1_ENST00000378070.4_Missense_Mutation_p.K291M|TXNRD1_ENST00000542918.1_Missense_Mutation_p.K242M|TXNRD1_ENST00000540716.1_Missense_Mutation_p.K154M|TXNRD1_ENST00000429002.2_Missense_Mutation_p.K342M|TXNRD1_ENST00000503506.2_Missense_Mutation_p.K192M|TXNRD1_ENST00000388854.3_Missense_Mutation_p.K244M|TXNRD1_ENST00000526390.1_Missense_Mutation_p.K236M|TXNRD1_ENST00000427956.1_Missense_Mutation_p.K307M|TXNRD1_ENST00000526950.1_Missense_Mutation_p.K261M|TXNRD1_ENST00000526691.1_Missense_Mutation_p.K244M			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	342	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGCCCGGGTAAGACCCTGGTT	0.398																																					Ovarian(139;555 1836 9186 9946 10884)												0								ENSG00000198431						286	256	265					12																	104714904		1888	4113	6001	TXNRD1	SO:0001583	missense	0			-	HGNC		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.461A>T	12.37:g.104714904A>T	ENSP00000434919:p.Lys154Met	Somatic	0	45	0		0.52429534266604	9	43.75	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	25.58	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.K342M	ENST00000529546.1	37	c.1025	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140405	0.77775	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.69	4.52	0.55395	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.042369	0.85682	D	0.000000	T	0.78874	0.4352	H	0.99026	4.405	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.996;0.997;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.985;0.975;0.991;0.958;0.975;0.986;0.986	T	0.82548	-0.0402	10	0.87932	D	0	-26.0808	8.7055	0.34351	0.8026:0.1294:0.0679:0.0	.	242;236;342;244;192;342;307	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	M	342;342;192;244;244;192;236;154;154;192;242;291;236;307;261	ENSP00000434516:K342M;ENSP00000412045:K342M;ENSP00000421934:K192M;ENSP00000435929:K244M;ENSP00000373506:K244M;ENSP00000347020:K192M;ENSP00000435123:K236M;ENSP00000434919:K154M;ENSP00000442709:K154M;ENSP00000433425:K192M;ENSP00000440978:K242M;ENSP00000367310:K291M;ENSP00000380844:K236M;ENSP00000393328:K307M;ENSP00000432812:K261M	ENSP00000347020:K192M	K	+	2	0	TXNRD1	103239034	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	7.476000	0.81055	0.966000	0.38159	0.514000	0.50259	AAG	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase		0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	protein_coding	OTTHUMT00000389969.1	A	NM_003330	-		104714904	1	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104714904	A	T	104714904	3	4	196	1	0	0	0	0	1	0	0	0	16814	72	3	5	1077	5	TXNRD1	12	104714904	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	219014	104714904	29136991	1543	14815	319	2									
TXNRD1	7296	genome.wustl.edu	37	chr12	104714905	104714905	+	Silent	SNP	G	G	A													ttgccttactgcccgggtaaGaccctggttgttggagcatc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:104714905G>A	ENST00000529546.1	+	7	687	c.462G>A	c.(460-462)aaG>aaA	p.K154K	TXNRD1_ENST00000397736.2_Silent_p.K236K|TXNRD1_ENST00000524698.1_Silent_p.K192K|TXNRD1_ENST00000354940.6_Silent_p.K192K|TXNRD1_ENST00000525566.1_Silent_p.K342K|TXNRD1_ENST00000378070.4_Silent_p.K291K|TXNRD1_ENST00000542918.1_Silent_p.K242K|TXNRD1_ENST00000540716.1_Silent_p.K154K|TXNRD1_ENST00000429002.2_Silent_p.K342K|TXNRD1_ENST00000503506.2_Silent_p.K192K|TXNRD1_ENST00000388854.3_Silent_p.K244K|TXNRD1_ENST00000526390.1_Silent_p.K236K|TXNRD1_ENST00000427956.1_Silent_p.K307K|TXNRD1_ENST00000526950.1_Silent_p.K261K|TXNRD1_ENST00000526691.1_Silent_p.K244K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	342	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GCCCGGGTAAGACCCTGGTTG	0.398																																					Ovarian(139;555 1836 9186 9946 10884)												0								ENSG00000198431						288	259	268					12																	104714905		1890	4113	6003	TXNRD1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.462G>A	12.37:g.104714905G>A		Somatic	0	46	0		0.52429534266604	9	43.75	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.K342	ENST00000529546.1	37	c.1026	CCDS58274.1	12																																																																																			-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase		0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	protein_coding	OTTHUMT00000389969.1	G	NM_003330	-		104714905	1	no_errors	ENST00000429002	ensembl	human	known	74_37	silent	SNP	1.000	A	A	104714905	G	A	104714905	2	1	196	1	0	0	0	0	0	0	0	1	16814	933	33	2		2	TXNRD1	12	104714905	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	104714905	29136990	1544	14816	319	2									
ALDH1L2	160428	genome.wustl.edu	37	chr12	105425713	105425713	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttttaatttcttctacCtgtatgttacccagtccata	3	10	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:105425713C>T	ENST00000258494.9	-	20	2385		c.e20-1		C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTTCTTCTACCTGTATGTTAC	0.363																																																	0								ENSG00000136010						138	143	141					12																	105425713		2203	4300	6503	ALDH1L2	SO:0001630	splice_region_variant	0			-	HGNC	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2245-1G>A	12.37:g.105425713C>T		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	Q3SY68|Q68D62|Q6AI55|Q8N922	Splice_Site	SNP							-	e20-1	ENST00000258494.9	37	c.2245-1	CCDS31891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.799602|3.799602	0.70567|0.70567	.|.	.|.	ENSG00000136010|ENSG00000136010	ENST00000258494|ENST00000548418	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75376	.|0.3841	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73154	.|-0.4072	.|4	.|.	.|.	.|.	.|.	19.6632|19.6632	0.95882|0.95882	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|1	.|.	.|.	.|G	-|-	.|1	.|0	ALDH1L2|ALDH1L2	103949843|103949843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.747000|7.747000	0.85070|0.85070	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	.|GGT	-	-		0.363	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	protein_coding	OTTHUMT00000406098.1	C	XM_090294	-	Intron	105425713	-1	no_errors	ENST00000258494	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	105425713	C	T	105425713	5	4	196	1	0	0	0	0	0	0	1	0	495	695	24	2	543	2	ALDH1L2	12	105425713	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	710808	105425713	28426182	1545	14817											
CKAP4	10970	genome.wustl.edu	37	chr12	106633476	106633476	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggaatcggacttcagctGgcggagctcttcctccagtc	13	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:106633476G>A	ENST00000378026.4	-	2	1271	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	379						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						GACTTCAGCTGGCGGAGCTCT	0.637																																																	0								ENSG00000136026						38	41	40					12																	106633476		2203	4300	6503	CKAP4	SO:0001587	stop_gained	0			-	HGNC	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.1135C>T	12.37:g.106633476G>A	ENSP00000367265:p.Gln379*	Somatic	0	37	0		0.52429534266604	146	19.78	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q504S5|Q53ES6	Nonsense_Mutation	SNP							superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.Q379*	ENST00000378026.4	37	c.1135	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021969	0.93462	.	.	ENSG00000136026	ENST00000378026	.	.	.	5.82	5.82	0.92795	.	0.422798	0.28225	N	0.016123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-27.4602	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000367265:Q379X	Q	-	1	0	CKAP4	105157606	1.000000	0.71417	0.177000	0.23020	0.609000	0.37215	5.245000	0.65405	2.756000	0.94617	0.563000	0.77884	CAG	-	superfamily_Tscrpt_elong_fac_GreA/B_N		0.637	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	protein_coding	OTTHUMT00000407196.1	G		-		106633476	-1	no_errors	ENST00000378026	ensembl	human	known	74_37	nonsense	SNP	0.785	A	A	106633476	G	A	106633476	4	1	196	1	0	0	0	0	0	1	0	0	3446	1357	47	2	677	2	CKAP4	12	106633476	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1207763	106633476	27218419	1546	14818											
BTBD11	121551	genome.wustl.edu	37	chr12	108045475	108045475	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgctgctaagtttttcCagctggaggctttgcagcga	12	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:108045475C>T	ENST00000280758.5	+	16	3544	c.3016C>T	c.(3016-3018)Cag>Tag	p.Q1006*	BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Q85*|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q887*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q543*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1006						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TAAGTTTTTCCAGCTGGAGGC	0.428																																																	0								ENSG00000151136						98	95	96					12																	108045475		2203	4300	6503	BTBD11	SO:0001587	stop_gained	0			-	HGNC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3016C>T	12.37:g.108045475C>T	ENSP00000280758:p.Gln1006*	Somatic	0	48	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.Q1006*	ENST00000280758.5	37	c.3016	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.075285	0.98044	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	.	.	.	X	1006;887;543;85	.	ENSP00000280758:Q1006X	Q	+	1	0	BTBD11	106569605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.535000	0.85469	0.655000	0.94253	CAG	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.428	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	protein_coding	OTTHUMT00000318003.1	C	NM_152322	-		108045475	1	no_errors	ENST00000280758	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	108045475	C	T	108045475	4	4	196	1	0	0	0	0	0	1	0	0	1541	595	21	2	3183	2	BTBD11	12	108045475	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1411999	108045475	25806420	1547	14819											
ISCU	23479	genome.wustl.edu	37	chr12	108958135	108958135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggaactggactggtgggGgctccagcatgtggtgacgt	18	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:108958135G>A	ENST00000311893.9	+	2	217	c.195G>A	c.(193-195)ggG>ggA	p.G65G	ISCU_ENST00000338291.4_Silent_p.G40G|SART3_ENST00000228284.3_5'Flank|SART3_ENST00000546611.1_5'Flank|ISCU_ENST00000431221.2_Silent_p.G65G|ISCU_ENST00000539593.1_Silent_p.G65G|ISCU_ENST00000547005.1_Silent_p.G65G|ISCU_ENST00000392807.4_Silent_p.G40G|ISCU_ENST00000535729.1_Silent_p.G65G	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	65					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GACTGGTGGGGGCTCCAGCAT	0.388																																																	0								ENSG00000136003						79	83	82					12																	108958135		2203	4300	6503	ISCU	SO:0001819	synonymous_variant	0			-	HGNC	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"NifU-like N-terminal domain containing", "IscU iron-sulfur cluster scaffold homolog (E. coli)", "iron-sulfur cluster scaffold homolog (E. coli)"	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.195G>A	12.37:g.108958135G>A		Somatic	0	88	0		0.52429534266604	171	44.3	136	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	44	48.84	Q6P713|Q99617|Q9H1K2	Silent	SNP							pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU	p.G65	ENST00000311893.9	37	c.195	CCDS44966.1	12																																																																																			-	pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU		0.388	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISCU	protein_coding	OTTHUMT00000399693.1	G	NM_014301	-		108958135	1	no_errors	ENST00000311893	ensembl	human	known	74_37	silent	SNP	0.586	A	A	108958135	G	A	108958135	2	1	196	1	0	0	0	0	0	0	0	1	7854	1219	43	2		2	ISCU	12	108958135	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	912660	108958135	24893760	1548	14820											
TMEM119	338773	genome.wustl.edu	37	chr12	108985902	108985902	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcggaagaagtccactatCccatccaggaagttggtggg	14	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:108985902C>T	ENST00000392806.3	-	2	426	c.258G>A	c.(256-258)ggG>ggA	p.G86G		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	86					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGTCCACTATCCCATCCAGGA	0.652																																																	0								ENSG00000183160						91	91	91					12																	108985902		2203	4300	6503	TMEM119	SO:0001819	synonymous_variant	0			-	HGNC	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.258G>A	12.37:g.108985902C>T		Somatic	0	28	0		0.52429534266604	63	29.21	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	Q6UXE5|Q8N2F5	Silent	SNP							NULL	p.G86	ENST00000392806.3	37	c.258	CCDS9119.1	12																																																																																			-	NULL		0.652	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM119	protein_coding	OTTHUMT00000403900.1	C	NM_181724	-		108985902	-1	no_errors	ENST00000392806	ensembl	human	known	74_37	silent	SNP	0.725	T	T	108985902	C	T	108985902	2	4	196	1	0	0	0	0	0	0	0	1	16039	842	30	2		2	TMEM119	12	108985902	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	27767	108985902	24865993	1549	14821											
SSH1	54434	genome.wustl.edu	37	chr12	109186349	109186349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccaacagagcctccctctCcggatcctccaggtggacca	8	18	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:109186349C>T	ENST00000326495.5	-	14	1699	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	SSH1_ENST00000360239.3_Missense_Mutation_p.E224K|SSH1_ENST00000326470.5_Missense_Mutation_p.E547K|SSH1_ENST00000551165.1_Missense_Mutation_p.E536K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	536					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E536Q(1)|p.E547Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCCCTCTCCGGATCCTCC	0.627																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000084112						61	68	65					12																	109186349		2203	4300	6503	SSH1	SO:0001583	missense	0			-	HGNC	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1606G>A	12.37:g.109186349C>T	ENSP00000315713:p.Glu536Lys	Somatic	0	74	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E536K	ENST00000326495.5	37	c.1606	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707215	0.68615	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.18338	2.24;2.26;2.26;2.22	5.58	5.58	0.84498	.	405.694000	0.00772	U	0.001214	T	0.48352	0.1495	M	0.71581	2.175	0.44570	D	0.997536	D;D;D;D	0.89917	0.995;0.995;0.991;1.0	D;D;P;D	0.68621	0.945;0.926;0.787;0.959	T	0.02009	-1.1230	10	0.41790	T	0.15	-38.6692	16.2381	0.82393	0.0:0.8674:0.1326:0.0	.	547;536;536;224	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	K	224;536;536;547	ENSP00000353374:E224K;ENSP00000315713:E536K;ENSP00000448824:E536K;ENSP00000326107:E547K	ENSP00000326107:E547K	E	-	1	0	SSH1	107710478	0.997000	0.39634	0.916000	0.36221	0.024000	0.10985	3.550000	0.53691	2.793000	0.96121	0.655000	0.94253	GAG	-	NULL		0.627	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	protein_coding	OTTHUMT00000403724.1	C	NM_018984	-		109186349	-1	no_errors	ENST00000326495	ensembl	human	known	74_37	missense	SNP	0.999	T	T	109186349	C	T	109186349	3	4	196	1	0	0	0	0	1	0	0	0	15191	864	30	2	1737	2	SSH1	12	109186349	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	200447	109186349	24665546	1550	14822											
USP30	84749	genome.wustl.edu	37	chr12	109522791	109522791	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggggcccccaaaacacagaTttttatgaatggcgcctgct	10	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:109522791T>A	ENST00000257548.5	+	12	1295	c.1202T>A	c.(1201-1203)aTt>aAt	p.I401N	USP30_ENST00000392784.2_Missense_Mutation_p.I370N	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	401	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAAACACAGATTTTTATGAAT	0.507																																																	0								ENSG00000135093						140	160	153					12																	109522791		2203	4300	6503	USP30	SO:0001583	missense	0			-	HGNC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1202T>A	12.37:g.109522791T>A	ENSP00000257548:p.Ile401Asn	Somatic	0	47	0		0.52429534266604	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.I401N	ENST00000257548.5	37	c.1202	CCDS9123.2	12	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003342	0.54254	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.74421	-0.84;-0.84	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.819209	0.11058	N	0.604265	T	0.58524	0.2128	N	0.08118	0	0.34753	D	0.731964	B;B	0.24768	0.111;0.033	B;B	0.29663	0.105;0.066	T	0.61212	-0.7108	10	0.31617	T	0.26	-2.908	12.0008	0.53228	0.0:0.0:0.0:1.0	.	401;370	Q70CQ3;B3KUS5	UBP30_HUMAN;.	N	370;401	ENSP00000376535:I370N;ENSP00000257548:I401N	ENSP00000257548:I401N	I	+	2	0	USP30	108007174	0.281000	0.24258	0.814000	0.32528	0.978000	0.69477	2.700000	0.47085	2.082000	0.62665	0.528000	0.53228	ATT	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.507	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	protein_coding	OTTHUMT00000257733.2	T	NM_032663	-		109522791	1	no_errors	ENST00000257548	ensembl	human	known	74_37	missense	SNP	0.832	A	A	109522791	T	A	109522791	3	1	196	1	0	0	0	0	1	0	0	0	17068	1493	52	5	1248	5	USP30	12	109522791	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	336442	109522791	24329104	1551	14823											
KCTD10	83892	genome.wustl.edu	37	chr12	109894018	109894018	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaggaccagcagcagatttCatccccaataacatccttta	5	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:109894018C>T	ENST00000228495.6	-	6	909	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	KCTD10_ENST00000540411.1_Missense_Mutation_p.E184K|KCTD10_ENST00000540089.1_Missense_Mutation_p.E29K|KCTD10_ENST00000424763.2_Missense_Mutation_p.E29K|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	210					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CAGCAGATTTCATCCCCAATA	0.438																																																	0								ENSG00000110906						148	134	139					12																	109894018		2203	4300	6503	KCTD10	SO:0001583	missense	0			-	HGNC	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.628G>A	12.37:g.109894018C>T	ENSP00000228495:p.Glu210Lys	Somatic	0	93	0		0.52429534266604	15	16.67	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	87	21.62	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP							pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E210K	ENST00000228495.6	37	c.628	CCDS9128.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.626860|5.626860	0.96671|0.96671	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355|ENST00000538161	T;T|.	0.55930|.	0.57;0.49|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79317|0.79317	0.4425|0.4425	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.59357|.	0.985;0.985;0.974|.	P;P;P|.	0.57846|.	0.828;0.828;0.742|.	T|T	0.81790|0.81790	-0.0771|-0.0771	10|5	0.87932|.	D|.	0|.	-20.3239|-20.3239	17.0631|17.0631	0.86552|0.86552	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	184;187;210|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	K|I	210;29;52;29;184;29;29;29;29|175	ENSP00000228495:E210K;ENSP00000441672:E184K|.	ENSP00000228495:E210K|.	E|M	-|-	1|3	0|0	KCTD10|KCTD10	108378401|108378401	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.981000|0.981000	0.71138|0.71138	7.651000|7.651000	0.83577|0.83577	2.586000|2.586000	0.87340|0.87340	0.561000|0.561000	0.74099|0.74099	GAA|ATG	-	NULL		0.438	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	protein_coding	OTTHUMT00000403099.1	C	NM_031954	-		109894018	-1	no_errors	ENST00000228495	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109894018	C	T	109894018	3	4	196	1	0	0	0	0	1	0	0	0	8099	835	29	2	321	2	KCTD10	12	109894018	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	371227	109894018	23957877	1552	14824											
CCDC63	160762	genome.wustl.edu	37	chr12	111345205	111345205	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatatcctgaaggagaatcgGagtaaggaagtgcgcggaga	15	5	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:111345205G>A	ENST00000308208.5	+	12	1859	c.1617G>A	c.(1615-1617)cgG>cgA	p.R539R	CCDC63_ENST00000545036.1_Silent_p.R499R|CCDC63_ENST00000552694.1_Silent_p.R460R	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	539										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGGAGAATCGGAGTAAGGAAG	0.537																																																	0								ENSG00000173093						87	69	75					12																	111345205		2203	4300	6503	CCDC63	SO:0001819	synonymous_variant	0			-	HGNC	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1617G>A	12.37:g.111345205G>A		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B4DY03|Q0P603|Q6P2E1	Silent	SNP							NULL	p.R539	ENST00000308208.5	37	c.1617	CCDS9151.1	12																																																																																			-	NULL		0.537	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	protein_coding	OTTHUMT00000404673.2	G	NM_152591	-		111345205	1	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	SNP	0.000	A	A	111345205	G	A	111345205	2	1	196	1	0	0	0	0	0	0	0	1	2836	1161	41	2		2	CCDC63	12	111345205	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1451187	111345205	22506690	1553	14825											
CUX2	23316	genome.wustl.edu	37	chr12	111776258	111776258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagaagctgagggataTgaagaagctggagaagaaag	17	3	0	6			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:111776258T>C	ENST00000261726.6	+	20	3519	c.3365T>C	c.(3364-3366)aTg>aCg	p.M1122T	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1122					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTGAGGGATATGAAGAAGCTG	0.542																																																	0								ENSG00000111249						56	64	62					12																	111776258		2009	4192	6201	CUX2	SO:0001583	missense	0			-	HGNC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3365T>C	12.37:g.111776258T>C	ENSP00000261726:p.Met1122Thr	Somatic	0	34	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.00	A7E2Y4	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.M1122T	ENST00000261726.6	37	c.3365	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195926	0.58126	.	.	ENSG00000111249	ENST00000261726	T	0.53640	0.61	5.32	5.32	0.75619	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.081827	0.85682	D	0.000000	T	0.41442	0.1159	L	0.33485	1.01	0.80722	D	1	B	0.18013	0.025	B	0.25759	0.063	T	0.30475	-0.9977	10	0.56958	D	0.05	-23.0052	15.3177	0.74095	0.0:0.0:0.0:1.0	.	1122	O14529	CUX2_HUMAN	T	1122	ENSP00000261726:M1122T	ENSP00000261726:M1122T	M	+	2	0	CUX2	110260641	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.040000	0.89188	2.020000	0.59435	0.533000	0.62120	ATG	-	superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT		0.542	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	protein_coding	OTTHUMT00000404765.1	T	NM_015267	-		111776258	1	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	SNP	1.000	C	C	111776258	T	C	111776258	3	2	196	1	0	0	0	0	1	0	0	0	4067	1464	51	5	3443	5	CUX2	12	111776258	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	431053	111776258	22075637	1554	14826											
ALDH2	217	genome.wustl.edu	37	chr12	112247357	112247357	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttacaggtcacagtcaAagtgcctcagaagaactcat	7	13	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112247357A>C	ENST00000261733.2	+	13	1593	c.1532A>C	c.(1531-1533)aAa>aCa	p.K511T	ALDH2_ENST00000416293.3_Missense_Mutation_p.K464T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	511					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GTCACAGTCAAAGTGCCTCAG	0.473			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0								ENSG00000111275						99	88	92					12																	112247357		2203	4300	6503	ALDH2	SO:0001583	missense	0			-	HGNC	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1532A>C	12.37:g.112247357A>C	ENSP00000261733:p.Lys511Thr	Somatic	0	37	0		0.52429534266604	136	2.86	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K511T	ENST00000261733.2	37	c.1532	CCDS9155.1	12	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934343	0.52866	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.16457	2.34;2.34	5.96	2.4	0.29515	Aldehyde/histidinol dehydrogenase (1);	0.134192	0.64402	D	0.000003	T	0.12263	0.0298	L	0.31371	0.925	0.44694	D	0.997681	B;P;B	0.45957	0.229;0.869;0.194	B;B;B	0.40134	0.128;0.32;0.208	T	0.03473	-1.1033	10	0.87932	D	0	.	9.5787	0.39475	0.8103:0.0:0.1897:0.0	.	464;435;511	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	T	464;511;435;371	ENSP00000403349:K464T;ENSP00000261733:K511T	ENSP00000261733:K511T	K	+	2	0	ALDH2	110731740	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	3.227000	0.51262	0.174000	0.19809	0.533000	0.62120	AAA	-	superfamily_Ald_DH/histidinol_DH		0.473	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	protein_coding	OTTHUMT00000405008.1	A	NM_000690	-		112247357	1	no_errors	ENST00000261733	ensembl	human	known	74_37	missense	SNP	1.000	C	C	112247357	A	C	112247357	3	2	196	1	0	0	0	0	1	0	0	0	496	14	1	5	1582	5	ALDH2	12	112247357	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	471099	112247357	21604538	1555	14827											
C12orf51	283450	genome.wustl.edu	37	chr12	112630518	112630518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcgcttcactttgtgGccgaggccatatacgagcac	9	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112630518G>A	ENST00000430131.2	-	58	9017	c.7872C>T	c.(7870-7872)ggC>ggT	p.G2624G	HECTD4_ENST00000377560.5_Silent_p.G2874G|HECTD4_ENST00000550722.1_Silent_p.G2900G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2624					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCACTTTGTGGCCGAGGCCAT	0.617																																																	0								ENSG00000173064						24	28	27					12																	112630518		2015	4175	6190	HECTD4	SO:0001819	synonymous_variant	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7872C>T	12.37:g.112630518G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP							pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G2874	ENST00000430131.2	37	c.8622		12																																																																																			-	NULL		0.617	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		G	NM_173813	-		112630518	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	SNP	0.999	A	A	112630518	G	A	112630518	2	1	196	1	0	0	0	0	0	0	0	1	1698	1190	42	2		2	C12orf51	12	112630518	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	383161	112630518	21221377	1556	14828											
C12orf51	283450	genome.wustl.edu	37	chr12	112631418	112631418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtggcggagcagttctggGaatggatgcaatgctgtaaa	15	7	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112631418G>A	ENST00000430131.2	-	56	8689	c.7544C>T	c.(7543-7545)tCc>tTc	p.S2515F	HECTD4_ENST00000377560.5_Missense_Mutation_p.S2765F|HECTD4_ENST00000550722.1_Missense_Mutation_p.S2791F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2515					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCAGTTCTGGGAATGGATGCA	0.572																																																	0								ENSG00000173064						58	68	65					12																	112631418		2048	4206	6254	HECTD4	SO:0001583	missense	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7544C>T	12.37:g.112631418G>A	ENSP00000404379:p.Ser2515Phe	Somatic	0	52	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.54	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S2765F	ENST00000430131.2	37	c.8294		12	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414209	0.62511	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.50001	0.76;0.76;0.76	5.41	4.49	0.54785	.	.	.	.	.	T	0.35393	0.0930	N	0.14661	0.345	0.43326	D	0.99535	P	0.37864	0.61	B	0.38712	0.28	T	0.33266	-0.9875	9	0.59425	D	0.04	.	15.9201	0.79556	0.0:0.1356:0.8644:0.0	.	2515	Q9Y4D8	K0614_HUMAN	F	2765;2515;2791	ENSP00000366783:S2765F;ENSP00000404379:S2515F;ENSP00000449784:S2791F	ENSP00000366783:S2765F	S	-	2	0	C12orf51	111115801	1.000000	0.71417	0.585000	0.28666	0.997000	0.91878	5.716000	0.68437	1.246000	0.43901	0.591000	0.81541	TCC	-	NULL		0.572	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		G	NM_173813	-		112631418	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	SNP	0.993	A	A	112631418	G	A	112631418	3	1	196	1	0	0	0	0	1	0	0	0	1698	1174	41	2	4526	2	C12orf51	12	112631418	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	900	112631418	21220477	1557	14829											
TBX5	6910	genome.wustl.edu	37	chr12	114793599	114793599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgagggaccaggggccccGaggtgaagtgagcggagaag	20	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:114793599G>A	ENST00000310346.4	-	9	1961	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TBX5_ENST00000405440.2_Missense_Mutation_p.S432L|TBX5_ENST00000349716.5_Missense_Mutation_p.S382L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	432				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGGGGCCCCGAGGTGAAGTG	0.647																																					NSCLC(152;1358 1980 4050 23898 40356)												0								ENSG00000089225						25	26	26					12																	114793599		2203	4298	6501	TBX5	SO:0001583	missense	0			-	HGNC	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1295C>T	12.37:g.114793599G>A	ENSP00000309913:p.Ser432Leu	Somatic	0	90	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	75	24.75	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S432L	ENST00000310346.4	37	c.1295	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888701	0.91814	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.60797	0.16;0.16;0.16	5.27	4.38	0.52667	.	0.230621	0.38436	N	0.001691	T	0.72669	0.3489	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71935	-0.4442	10	0.34782	T	0.22	.	13.5027	0.61467	0.0749:0.0:0.9251:0.0	.	432	Q99593	TBX5_HUMAN	L	382;432;329;432	ENSP00000337723:S382L;ENSP00000309913:S432L;ENSP00000384152:S432L	ENSP00000309913:S432L	S	-	2	0	TBX5	113277982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.223000	0.43536	0.655000	0.94253	TCG	-	NULL		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	protein_coding	OTTHUMT00000388297.1	G	NM_080717	-		114793599	-1	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114793599	G	A	114793599	3	1	196	1	0	0	0	0	1	0	0	0	15668	1059	37	1	265	1	TBX5	12	114793599	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2162181	114793599	19058296	1558	14830											
KSR2	283455	genome.wustl.edu	37	chr12	118199039	118199039	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggggtgcggaccgcgtgccGctgccggggcgatgggggca	22	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:118199039G>T	ENST00000339824.5	-	4	1490	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	KSR2_ENST00000425217.1_Silent_p.R226R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	255	Pro-rich.				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)			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)					ACCGCGTGCCGCTGCCGGGGC	0.731																																																	0								ENSG00000171435						27	37	34					12																	118199039		1817	3991	5808	KSR2	SO:0001819	synonymous_variant	0			-	HGNC	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.763C>A	12.37:g.118199039G>T		Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	A0PJT2|Q3B828|Q8N775	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R255	ENST00000339824.5	37	c.763		12																																																																																			-	NULL		0.731	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	G	NM_173598	-		118199039	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	SNP	1.000	T	T	118199039	G	T	118199039	2	4	196	1	0	0	0	0	0	0	0	1	8584	1086	38	3		3	KSR2	12	118199039	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3405440	118199039	15652856	1559	14831											
HSPB8	26353	genome.wustl.edu	37	chr12	119631631	119631631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtttcaacaacgagcttCcccaggacagccaggaagtc	10	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:119631631C>T	ENST00000281938.2	+	3	1230	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	187					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACGAGCTTCCCCAGGACAG	0.517																																																	0								ENSG00000152137						101	92	95					12																	119631631		2203	4300	6503	HSPB8	SO:0001583	missense	0			-	HGNC	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.559C>T	12.37:g.119631631C>T	ENSP00000281938:p.Pro187Ser	Somatic	0	71	0		0.52429534266604	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	74	22.11	B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP							pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.P187S	ENST00000281938.2	37	c.559	CCDS9189.1	12	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771676	0.69992	.	.	ENSG00000152137	ENST00000281938	D	0.86627	-2.15	4.29	4.29	0.51040	.	0.374714	0.28241	N	0.016065	D	0.82774	0.5110	L	0.29908	0.895	0.58432	D	0.999992	D	0.56287	0.975	P	0.46362	0.514	T	0.82259	-0.0546	9	.	.	.	.	16.0174	0.80450	0.0:1.0:0.0:0.0	.	187	Q9UJY1	HSPB8_HUMAN	S	187	ENSP00000281938:P187S	.	P	+	1	0	HSPB8	118116014	0.990000	0.36364	1.000000	0.80357	0.887000	0.51463	2.448000	0.44926	2.396000	0.81511	0.561000	0.74099	CCC	-	NULL		0.517	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB8	protein_coding	OTTHUMT00000401647.1	C	NM_014365	-		119631631	1	no_errors	ENST00000281938	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119631631	C	T	119631631	3	4	196	1	0	0	0	0	1	0	0	0	7425	855	30	2	569	2	HSPB8	12	119631631	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1432592	119631631	14220264	1560	14832											
CCDC60	160777	genome.wustl.edu	37	chr12	119773025	119773025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttcagagttcccccaActcgggggctgtccggccct	12	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:119773025A>G	ENST00000327554.2	+	1	509	c.44A>G	c.(43-45)aAc>aGc	p.N15S	CCDC60_ENST00000539847.1_Missense_Mutation_p.N15S|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.N15S	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	15										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)		AGTTCCCCCAACTCGGGGGCT	0.493																																																	0								ENSG00000183273						71	79	76					12																	119773025		2203	4300	6503	CCDC60	SO:0001583	missense	0			-	HGNC	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.44A>G	12.37:g.119773025A>G	ENSP00000333374:p.Asn15Ser	Somatic	0	157	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	98	40.24		Missense_Mutation	SNP							NULL	p.N15S	ENST00000327554.2	37	c.44	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	A	6.473	0.455402	0.12283	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.43294	0.95;2.04;1.1	4.88	-0.266	0.12942	.	0.510501	0.17469	N	0.173154	T	0.12263	0.0298	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16897	-1.0387	9	.	.	.	-12.7148	1.301	0.02079	0.2869:0.4049:0.129:0.1792	.	15	Q8IWA6	CCD60_HUMAN	S	15	ENSP00000445505:N15S;ENSP00000333374:N15S;ENSP00000443403:N15S	.	N	+	2	0	CCDC60	118257408	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.056000	0.14256	0.156000	0.19299	0.529000	0.55759	AAC	-	NULL		0.493	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	A	NM_178499	-		119773025	1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	SNP	0.007	G	G	119773025	A	G	119773025	3	3	196	1	0	0	0	0	1	0	0	0	2833	43	2	5	46	5	CCDC60	12	119773025	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	141394	119773025	14078870	1561	14833											
GATC	51499	genome.wustl.edu	37	chr12	120884352	120884352	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagggcttcacctccaaGgcggatcctcaggtaaaggc	12	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:120884352G>A	ENST00000546954.1	-	0	0				TRIAP1_ENST00000302432.3_5'Flank|AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_Silent_p.K23K	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCTCCAAGGCGGATCCTC	0.697																																																	0								ENSG00000257218						38	45	43					12																	120884352		2203	4298	6501	GATC	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"p53-inducible cell-survival factor", "mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884352G>A	Exception_encountered	Somatic	0	34	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	B2R4Z7|Q5RKS5|Q6LCA7	Silent	SNP							pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.K23	ENST00000546954.1	37	c.69	CCDS9198.1	12																																																																																			-	NULL		0.697	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	protein_coding	OTTHUMT00000108980.3	G	NM_016399	-		120884352	1	no_errors	ENST00000551765	ensembl	human	known	74_37	silent	SNP	0.011	A	A	120884352	G	A	120884352	1	1	196	0	1	0	0	0	0	0	0	0	6264	991	35	2		2	GATC	12	120884352	5'Flank	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1111327	120884352	12967543	1562	14834											
MLEC	9761	genome.wustl.edu	37	chr12	121131956	121131956	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaggaccagatcctgtatCaaactgagcggtacaatgag	11	9	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:121131956C>T	ENST00000228506.3	+	2	726	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Nonsense_Mutation_p.Q100*	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	100					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GATCCTGTATCAAACTGAGCG	0.498																																																	0								ENSG00000110917						108	90	96					12																	121131956		2203	4300	6503	MLEC	SO:0001587	stop_gained	0			-	HGNC	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.298C>T	12.37:g.121131956C>T	ENSP00000228506:p.Gln100*	Somatic	0	91	0		0.52429534266604	53	3.64	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	54	37.21		Nonsense_Mutation	SNP							pfam_Malectin	p.Q100*	ENST00000228506.3	37	c.298	CCDS9206.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.267475	0.97426	.	.	ENSG00000110917	ENST00000228506;ENST00000412616;ENST00000545525	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.7862	0.96440	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;17	.	ENSP00000228506:Q100X	Q	+	1	0	MLEC	119616339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.434000	0.80377	2.769000	0.95229	0.655000	0.94253	CAA	-	pfam_Malectin		0.498	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	protein_coding	OTTHUMT00000402781.2	C	NM_014730	-		121131956	1	no_errors	ENST00000228506	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	121131956	C	T	121131956	4	4	196	1	0	0	0	0	0	1	0	0	9615	827	29	2	304	2	MLEC	12	121131956	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	247604	121131956	12719939	1563	14835											
WDR66	144406	genome.wustl.edu	37	chr12	122398649	122398649	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctagactgctgagccttggGacagacaggctcttggtgag	14	10	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:122398649G>A	ENST00000288912.4	+	14	3146	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G	WDR66_ENST00000397454.2_Silent_p.G764G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	764							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGCCTTGGGACAGACAGGC	0.517																																					Esophageal Squamous(85;849 1794 49757 52143)												0								ENSG00000158023						85	83	83					12																	122398649		1969	4162	6131	WDR66	SO:0001819	synonymous_variant	0			-	HGNC	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2292G>A	12.37:g.122398649G>A		Somatic	0	55	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	30	46.43	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G764	ENST00000288912.4	37	c.2292	CCDS41853.1	12																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.517	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	protein_coding	OTTHUMT00000401700.1	G	NM_144668	-		122398649	1	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	SNP	0.000	A	A	122398649	G	A	122398649	2	1	196	1	0	0	0	0	0	0	0	1	17324	1161	41	2		2	WDR66	12	122398649	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1266693	122398649	11453246	1564	14836											
MLXIP	22877	genome.wustl.edu	37	chr12	122617972	122617972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccccctaccgccccatcCctggctcacatggatgagca	9	19	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:122617972C>T	ENST00000319080.7	+	9	1302	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	MLXIP_ENST00000377037.2_5'Flank|MLXIP_ENST00000538698.1_5'UTR					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCGCCCCATCCCTGGCTCACA	0.622																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0								ENSG00000175727						36	40	39					12																	122617972		2016	4172	6188	MLXIP	SO:0001819	synonymous_variant	0			-	HGNC	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1170C>T	12.37:g.122617972C>T		Somatic	0	81	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	70	18.60		Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S390	ENST00000319080.7	37	c.1170		12																																																																																			-	NULL		0.622	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	protein_coding	OTTHUMT00000401718.2	C	NM_014938	-		122617972	1	no_errors	ENST00000319080	ensembl	human	known	74_37	silent	SNP	0.545	T	T	122617972	C	T	122617972	2	4	196	1	0	0	0	0	0	0	0	1	9638	610	22	2		2	MLXIP	12	122617972	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	219323	122617972	11233923	1565	14837											
SBNO1	55206	genome.wustl.edu	37	chr12	123813425	123813425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccattatgtttggaagaAatttttccgtatttaaacta	5	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:123813425A>C	ENST00000602398.1	-	10	1279	c.1152T>G	c.(1150-1152)atT>atG	p.I384M	SBNO1_ENST00000602750.1_Missense_Mutation_p.I383M|SBNO1_ENST00000267176.4_Missense_Mutation_p.I383M|SBNO1_ENST00000420886.2_Missense_Mutation_p.I384M			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	384					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTTTGGAAGAAATTTTTCCGT	0.333																																																	0								ENSG00000139697						64	65	64					12																	123813425		2203	4300	6503	SBNO1	SO:0001583	missense	0			-	HGNC	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1152T>G	12.37:g.123813425A>C	ENSP00000473665:p.Ile384Met	Somatic	0	77	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP							pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.I384M	ENST00000602398.1	37	c.1152	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962705	0.53507	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93604	-3.25;-3.25	5.53	4.35	0.52113	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.88906	2.99	0.58432	D	0.999994	D;P;D	0.69078	0.997;0.723;0.997	D;P;D	0.80764	0.986;0.64;0.994	D	0.95727	0.8771	10	0.54805	T	0.06	-25.8932	9.7797	0.40640	0.7247:0.0:0.0:0.2753	.	384;383;382	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	M	384;383;383	ENSP00000387361:I384M;ENSP00000267176:I383M	ENSP00000267176:I383M	I	-	3	3	SBNO1	122379378	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.037000	0.41174	0.878000	0.35920	0.260000	0.18958	ATT	-	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase		0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	protein_coding	OTTHUMT00000467684.1	A	NM_018183	-		123813425	-1	no_errors	ENST00000420886	ensembl	human	known	74_37	missense	SNP	1.000	C	C	123813425	A	C	123813425	3	2	196	1	0	0	0	0	1	0	0	0	13870	10	1	5	3121	5	SBNO1	12	123813425	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1195453	123813425	10038470	1566	14838											
DNAH10	196385	genome.wustl.edu	37	chr12	124325906	124325906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgaggtttaatgacgGcgatagtggagaaaaactgg	13	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:124325906G>A	ENST00000409039.3	+	29	4845	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1607	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTAATGACGGCGATAGTGGA	0.522																																																	0								ENSG00000197653						228	227	227					12																	124325906		2033	4186	6219	DNAH10	SO:0001583	missense	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4820G>A	12.37:g.124325906G>A	ENSP00000386770:p.Gly1607Asp	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.G1607D	ENST00000409039.3	37	c.4820	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	5.562	0.288519	0.10513	.	.	ENSG00000197653	ENST00000409039	T	0.59502	0.26	5.23	4.3	0.51218	Dynein heavy chain, domain-2 (1);	0.157404	0.41823	U	0.000803	T	0.30510	0.0767	N	0.04162	-0.26	0.48452	D	0.999653	B	0.11235	0.004	B	0.20384	0.029	T	0.09530	-1.0670	10	0.08381	T	0.77	.	9.856	0.41086	0.0757:0.1414:0.7829:0.0	.	1607	Q8IVF4	DYH10_HUMAN	D	1607	ENSP00000386770:G1607D	ENSP00000386770:G1607D	G	+	2	0	DNAH10	122891859	1.000000	0.71417	0.777000	0.31699	0.009000	0.06853	3.761000	0.55242	1.148000	0.42385	0.561000	0.74099	GGC	-	pfam_Dynein_heavy_dom-2		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	G		-		124325906	1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	SNP	0.931	A	A	124325906	G	A	124325906	3	1	196	1	0	0	0	0	1	0	0	0	4600	1203	42	2	4934	2	DNAH10	12	124325906	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	512481	124325906	9525989	1567	14839											
NCOR2	9612	genome.wustl.edu	37	chr12	124841221	124841221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggctgaggggtccgGggcatgcggggaggccttga	22	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:124841221G>A	ENST00000405201.1	-	23	3208	c.3208C>T	c.(3208-3210)Ccg>Tcg	p.P1070S	NCOR2_ENST00000356219.3_Missense_Mutation_p.P1077S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P631S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1060S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1061S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1060S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1078					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GAGGGGTCCGGGGCATGCGGG	0.657																																																	0								ENSG00000196498						23	28	27					12																	124841221		1918	4124	6042	NCOR2	SO:0001583	missense	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3208C>T	12.37:g.124841221G>A	ENSP00000384018:p.Pro1070Ser	Somatic	0	45	0		0.52429534266604	1	90.91	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	34	47.69	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P1077S	ENST00000405201.1	37	c.3229	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235225	0.39498	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.29655	2.32;2.58;2.32;2.58;2.32;2.58;1.56	4.35	3.4	0.38934	.	0.193328	0.34223	N	0.004160	T	0.18002	0.0432	N	0.08118	0	0.18873	N	0.999988	P;P;P	0.48407	0.91;0.851;0.908	B;B;P	0.45753	0.388;0.297;0.492	T	0.06643	-1.0815	10	0.31617	T	0.26	-11.1214	9.8731	0.41187	0.0:0.3:0.7:0.0	.	1060;1061;1070	C9J0Q5;C9J239;C9JFD3	.;.;.	S	1070;1060;1077;1061;1069;631;1060;1078	ENSP00000384018:P1070S;ENSP00000384202:P1060S;ENSP00000348551:P1077S;ENSP00000380513:P1061S;ENSP00000385618:P631S;ENSP00000400281:P1060S;ENSP00000402808:P1078S	ENSP00000348551:P1077S	P	-	1	0	NCOR2	123407174	0.978000	0.34361	0.928000	0.36995	0.990000	0.78478	1.444000	0.35068	0.900000	0.36469	0.561000	0.74099	CCG	-	NULL		0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	G	NM_006312	-		124841221	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	SNP	0.353	A	A	124841221	G	A	124841221	3	1	196	1	0	0	0	0	1	0	0	0	10238	1232	43	2	4436	2	NCOR2	12	124841221	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	515315	124841221	9010674	1568	14840											
TMEM132B	114795	genome.wustl.edu	37	chr12	126128661	126128661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatttttgtgaatgggaagGaaatgaagagcaaagtggac	13	4	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:126128661G>A	ENST00000299308.3	+	6	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	488						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAATGGGAAGGAAATGAAGAG	0.483																																																	0								ENSG00000139364						98	96	96					12																	126128661		1993	4164	6157	TMEM132B	SO:0001583	missense	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1462G>A	12.37:g.126128661G>A	ENSP00000299308:p.Glu488Lys	Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	72	42.40	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP							NULL	p.E488K	ENST00000299308.3	37	c.1462	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421579	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.17854	2.25	5.52	4.62	0.57501	.	0.000000	0.53938	U	0.000048	T	0.45296	0.1335	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52426	-0.8577	10	0.87932	D	0	.	15.7031	0.77558	0.0:0.0:0.862:0.138	.	488	Q14DG7	T132B_HUMAN	K	488	ENSP00000299308:E488K	ENSP00000299308:E488K	E	+	1	0	TMEM132B	124694614	1.000000	0.71417	0.987000	0.45799	0.037000	0.13140	9.449000	0.97603	1.296000	0.44742	-0.182000	0.12963	GAA	-	NULL		0.483	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	G	NM_052907	-		126128661	1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126128661	G	A	126128661	3	1	196	1	0	0	0	0	1	0	0	0	16053	1175	41	2	1484	2	TMEM132B	12	126128661	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1287440	126128661	7723234	1569	14841											
TMEM132B	114795	genome.wustl.edu	37	chr12	126128723	126128723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacttcacctcccagttCgaggtcactgtctgggcacc	9	16	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:126128723C>T	ENST00000299308.3	+	6	1532	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TMEM132B_ENST00000535886.1_Silent_p.F20F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	508						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTCCCAGTTCGAGGTCACTG	0.527																																																	0								ENSG00000139364						84	86	85					12																	126128723		2012	4177	6189	TMEM132B	SO:0001819	synonymous_variant	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1524C>T	12.37:g.126128723C>T		Somatic	0	109	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	113	15.04	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP							NULL	p.F508	ENST00000299308.3	37	c.1524	CCDS41859.1	12																																																																																			-	NULL		0.527	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	C	NM_052907	-		126128723	1	no_errors	ENST00000299308	ensembl	human	known	74_37	silent	SNP	0.065	T	T	126128723	C	T	126128723	2	4	196	1	0	0	0	0	0	0	0	1	16053	883	31	1		1	TMEM132B	12	126128723	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	62	126128723	7723172	1570	14842											
RIMBP2	23504	genome.wustl.edu	37	chr12	130926662	130926662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgtccacccgcaggtggGagggggccaccaccacgtcc	14	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:130926662G>A	ENST00000261655.4	-	8	1347	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S303F|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S303F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	395	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCGCAGGTGGGAGGGGGCCAC	0.637																																																	0								ENSG00000060709						96	79	85					12																	130926662		2203	4300	6503	RIMBP2	SO:0001583	missense	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1184C>T	12.37:g.130926662G>A	ENSP00000261655:p.Ser395Phe	Somatic	0	32	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	Q96ID2	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S395F	ENST00000261655.4	37	c.1184	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	g	20.5	4.009266	0.75046	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.55413	0.52;0.52;0.52	4.23	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.066882	0.64402	D	0.000006	T	0.64294	0.2585	L	0.42245	1.32	0.44042	D	0.996772	D;B;D	0.71674	0.989;0.38;0.998	P;B;D	0.78314	0.641;0.294;0.991	T	0.62338	-0.6875	10	0.30854	T	0.27	-31.9038	16.6129	0.84899	0.0:0.0:1.0:0.0	.	303;303;395	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	F	395;303;303;303	ENSP00000261655:S395F;ENSP00000440347:S303F;ENSP00000439159:S303F	ENSP00000261655:S395F	S	-	2	0	RIMBP2	129492615	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	6.112000	0.71547	1.867000	0.54127	0.537000	0.68136	TCC	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347	-		130926662	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	SNP	1.000	A	A	130926662	G	A	130926662	3	1	196	1	0	0	0	0	1	0	0	0	13371	1174	41	2	2022	2	RIMBP2	12	130926662	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4797939	130926662	2925233	1571	14843											
RIMBP2	23504	genome.wustl.edu	37	chr12	130926872	130926872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgctcaccgttccccatCctggtggcaccgccgggggc	13	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:130926872C>T	ENST00000261655.4	-	8	1137	c.974G>A	c.(973-975)gGa>gAa	p.G325E	RIMBP2_ENST00000535703.1_Missense_Mutation_p.G233E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.G233E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	325	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGTTCCCCATCCTGGTGGCAC	0.552																																																	0								ENSG00000060709						153	146	148					12																	130926872		2203	4300	6503	RIMBP2	SO:0001583	missense	0			-	HGNC	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.974G>A	12.37:g.130926872C>T	ENSP00000261655:p.Gly325Glu	Somatic	0	92	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.51	Q96ID2	Missense_Mutation	SNP							pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.G325E	ENST00000261655.4	37	c.974	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801283	0.31869	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.61274	0.12;0.12;0.12	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61510	-0.7048	10	0.05721	T	0.95	-33.8952	16.6931	0.85327	0.0:1.0:0.0:0.0	.	233;325	O15034-2;O15034	.;RIMB2_HUMAN	E	325;233;233;233	ENSP00000261655:G325E;ENSP00000440347:G233E;ENSP00000439159:G233E	ENSP00000261655:G325E	G	-	2	0	RIMBP2	129492825	1.000000	0.71417	0.974000	0.42286	0.445000	0.32107	7.772000	0.85439	1.907000	0.55213	0.431000	0.28591	GGA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	C	NM_015347	-		130926872	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130926872	C	T	130926872	3	4	196	1	0	0	0	0	1	0	0	0	13371	855	30	2	2232	2	RIMBP2	12	130926872	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	210	130926872	2925023	1572	14844											
ANKLE2	23141	genome.wustl.edu	37	chr12	133331453	133331453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctctgtcttcagaaaaacCagcctgatcagttgggttcc	8	11	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:133331453C>T	ENST00000357997.5	-	2	537	c.448G>A	c.(448-450)Ggt>Agt	p.G150S	ANKLE2_ENST00000539605.1_Missense_Mutation_p.G88S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.G150S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	150					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCAGAAAAACCAGCCTGATCA	0.527																																																	0								ENSG00000176915						67	69	68					12																	133331453		1912	4127	6039	ANKLE2	SO:0001583	missense	0			-	HGNC	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.448G>A	12.37:g.133331453C>T	ENSP00000350686:p.Gly150Ser	Somatic	0	69	0		0.52429534266604	13	38.1	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	49	41.67	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP							pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.G150S	ENST00000357997.5	37	c.448	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	3.765	-0.048825	0.07407	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27720	2.08;2.09;1.65	5.62	-5.54	0.02544	.	0.778088	0.12671	N	0.448779	T	0.08358	0.0208	N	0.05124	-0.11	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.33420	-0.9869	10	0.06365	T	0.9	-2.2089	2.8861	0.05661	0.1216:0.3712:0.1189:0.3884	.	150;150	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	S	88;150;150	ENSP00000446268:G88S;ENSP00000350686:G150S;ENSP00000337651:G150S	ENSP00000337651:G150S	G	-	1	0	ANKLE2	131841526	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.325000	0.07976	-0.835000	0.04234	-0.781000	0.03364	GGT	-	NULL		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	protein_coding	OTTHUMT00000397712.1	C		-		133331453	-1	no_errors	ENST00000357997	ensembl	human	known	74_37	missense	SNP	0.000	T	T	133331453	C	T	133331453	3	4	196	1	0	0	0	0	1	0	0	0	633	594	21	2	2416	2	ANKLE2	12	133331453	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2404581	133331453	520442	1573	14845											
SKA3	221150	genome.wustl.edu	37	chr13	21732153	21732153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcgtaggtgaagagggatCtgttaaattctcaaagcatg	11	5	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:21732153C>T	ENST00000314759.5	-	7	1151	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	SKA3_ENST00000400018.3_Missense_Mutation_p.D343N	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	343					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAGAGGGATCTGTTAAATTC	0.348																																																	0								ENSG00000165480						127	137	133					13																	21732153		2203	4299	6502	SKA3	SO:0001583	missense	0			-	HGNC	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1027G>A	13.37:g.21732153C>T	ENSP00000319417:p.Asp343Asn	Somatic	0	202	0		0.52429534266604	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	154	15.30	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP							NULL	p.D343N	ENST00000314759.5	37	c.1027	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	C	4.410	0.075848	0.08485	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.22743	1.94;1.94	5.98	4.25	0.50352	.	0.630018	0.16615	N	0.206731	T	0.11665	0.0284	N	0.17474	0.49	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.14578	0.011;0.011	T	0.23226	-1.0194	10	0.23302	T	0.38	-1.6435	7.2569	0.26181	0.0:0.7633:0.0:0.2367	.	343;343	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	N	343	ENSP00000319417:D343N;ENSP00000382896:D343N	ENSP00000319417:D343N	D	-	1	0	SKA3	20630153	0.008000	0.16893	0.017000	0.16124	0.036000	0.12997	0.936000	0.28938	1.547000	0.49401	0.591000	0.81541	GAT	-	NULL		0.348	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	protein_coding	OTTHUMT00000272912.1	C	NM_145061	-		21732153	-1	no_errors	ENST00000314759	ensembl	human	known	74_37	missense	SNP	0.013	T	T	21732153	C	T	21732153	3	4	196	1	0	0	0	0	1	0	0	0	14362	913	32	2	270	2	SKA3	13	21732153	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		21732153	93437725	1574	14846											
SACS	26278	genome.wustl.edu	37	chr13	23909098	23909098	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcactagacaatataaatCtggctgtagatcaagacggt	8	7	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:23909098C>T	ENST00000382292.3	-	9	9190	c.8917G>A	c.(8917-8919)Gat>Aat	p.D2973N	SACS_ENST00000402364.1_Missense_Mutation_p.D2223N|SACS_ENST00000382298.3_Missense_Mutation_p.D2973N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2973					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)		CAATATAAATCTGGCTGTAGA	0.373																																																	0								ENSG00000151835						87	90	89					13																	23909098		2203	4299	6502	SACS	SO:0001583	missense	0			-	HGNC	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.8917G>A	13.37:g.23909098C>T	ENSP00000371729:p.Asp2973Asn	Somatic	0	38	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D2973N	ENST00000382292.3	37	c.8917	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	34	5.291705	0.95546	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.14;-2.28;-2.14	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	L	0.36672	1.1	0.50813	D	0.99989	D	0.59357	0.985	P	0.53518	0.728	D	0.84357	0.0536	10	0.21014	T	0.42	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	2973	Q9NZJ4	SACS_HUMAN	N	2973;2223;2973	ENSP00000371729:D2973N;ENSP00000385844:D2223N;ENSP00000371735:D2973N	ENSP00000371729:D2973N	D	-	1	0	SACS	22807098	1.000000	0.71417	0.986000	0.45419	0.893000	0.52053	7.487000	0.81328	2.653000	0.90120	0.555000	0.69702	GAT	-	NULL		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	C	NM_014363	-		23909098	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23909098	C	T	23909098	3	4	196	1	0	0	0	0	1	0	0	0	13812	913	32	2	4826	2	SACS	13	23909098	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2176945	23909098	91260780	1575	14847											
TNFRSF19	55504	genome.wustl.edu	37	chr13	24233222	24233222	+	Missense_Mutation	SNP	C	C	T													caacctcgtgaagatcgcgtCcacggcctccagcccacggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:24233222C>T	ENST00000382258.4	+	6	683	c.479C>T	c.(478-480)tCc>tTc	p.S160F	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.S28F|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.S160F|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.S160F	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	160					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AAGATCGCGTCCACGGCCTCC	0.592																																																	0								ENSG00000127863						67	62	64					13																	24233222		2203	4300	6503	TNFRSF19	SO:0001583	missense	0			-	HGNC	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.479C>T	13.37:g.24233222C>T	ENSP00000371693:p.Ser160Phe	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP							smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.S160F	ENST00000382258.4	37	c.479	CCDS9302.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.149492	0.94645	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.77	5.77	0.91146	.	0.101398	0.64402	D	0.000001	T	0.53834	0.1821	M	0.74258	2.255	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.994	T	0.44772	-0.9306	10	0.36615	T	0.2	-32.2312	19.9837	0.97340	0.0:1.0:0.0:0.0	.	28;160;160	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	F	160;28;160;160	ENSP00000248484:S160F;ENSP00000385408:S28F;ENSP00000371693:S160F;ENSP00000371698:S160F	ENSP00000248484:S160F	S	+	2	0	TNFRSF19	23131222	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	7.441000	0.80485	2.723000	0.93209	0.655000	0.94253	TCC	-	prints_TNFR_19		0.592	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	protein_coding	OTTHUMT00000044156.2	C	NM_018647	-		24233222	1	no_errors	ENST00000382258	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24233222	C	T	24233222	3	4	196	1	0	0	0	0	1	0	0	0	16299	855	30	2	497	2	TNFRSF19	13	24233222	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	324124	24233222	90936656	1576	14848	320	2									
TNFRSF19	55504	genome.wustl.edu	37	chr13	24233223	24233223	+	Silent	SNP	C	C	T													aacctcgtgaagatcgcgtcCacggcctccagcccacggga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:24233223C>T	ENST00000382258.4	+	6	684	c.480C>T	c.(478-480)tcC>tcT	p.S160S	TNFRSF19_ENST00000403372.2_Silent_p.S28S|TNFRSF19_ENST00000248484.4_Silent_p.S160S|TNFRSF19_ENST00000382263.3_Silent_p.S160S	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	160					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGATCGCGTCCACGGCCTCCA	0.587																																																	0								ENSG00000127863						66	61	63					13																	24233223		2203	4300	6503	TNFRSF19	SO:0001819	synonymous_variant	0			-	HGNC	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.480C>T	13.37:g.24233223C>T		Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP							smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.S160	ENST00000382258.4	37	c.480	CCDS9302.1	13																																																																																			-	prints_TNFR_19		0.587	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	protein_coding	OTTHUMT00000044156.2	C	NM_018647	-		24233223	1	no_errors	ENST00000382258	ensembl	human	known	74_37	silent	SNP	1.000	T	T	24233223	C	T	24233223	2	4	196	1	0	0	0	0	0	0	0	1	16299	581	21	2		2	TNFRSF19	13	24233223	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	24233223	90936655	1577	14849	320	2									
SPATA13	221178	genome.wustl.edu	37	chr13	24797073	24797073	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcccgtggccatgacCcaggctgccgtgcggccctg	15	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:24797073C>T	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Silent_p.T2T|SPATA13_ENST00000424834.2_Silent_p.T2T|RP11-307N16.6_ENST00000382141.4_Silent_p.T2T	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCATGACCCAGGCTGCCG	0.697																																																	0								ENSG00000182957						26	32	30					13																	24797073		692	1591	2283	SPATA13	SO:0001627	intron_variant	0			-	HGNC	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26542C>T	13.37:g.24797073C>T		Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.T2	ENST00000382095.4	37	c.6	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	C	5.391	0.257326	0.10239	.	.	ENSG00000182957	ENST00000424834	.	.	.	4.61	0.541	0.17168	.	.	.	.	.	T	0.29491	0.0735	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	5.8792	0.18846	0.0:0.5254:0.2987:0.1759	.	.	.	.	S	40	.	.	P	+	1	0	SPATA13	23695073	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.007000	0.13174	0.198000	0.20407	0.555000	0.69702	CCA	-	NULL		0.697	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	protein_coding	OTTHUMT00000044180.2	C	NM_153023	-		24797073	1	no_errors	ENST00000382108	ensembl	human	known	74_37	silent	SNP	0.000	T	T	24797073	C	T	24797073	1	4	196	0	1	0	0	0	0	0	0	0	15007	610	22	2		2	SPATA13	13	24797073	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	563850	24797073	90372805	1578	14850											
PABPC3	5042	genome.wustl.edu	37	chr13	25672009	25672009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaagcaaatgttagGtgaacggctctttcctctta	8	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:25672009G>A	ENST00000281589.3	+	1	1710	c.1673G>A	c.(1672-1674)gGt>gAt	p.G558D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	558	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				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)		CAAATGTTAGGTGAACGGCTC	0.438																																																	0								ENSG00000151846						119	108	111					13																	25672009		2203	4300	6503	PABPC3	SO:0001583	missense	0			-	HGNC	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.1673G>A	13.37:g.25672009G>A	ENSP00000281589:p.Gly558Asp	Somatic	0	79	0		0.52429534266604	114	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00	Q8NHV0|Q9H086	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G558D	ENST00000281589.3	37	c.1673	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897804	0.33535	.	.	ENSG00000151846	ENST00000281589	D	0.87729	-2.29	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.000000	0.48286	U	0.000195	D	0.94565	0.8249	H	0.97635	4.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.92908	0.6345	10	0.87932	D	0	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	558	Q9H361	PABP3_HUMAN	D	558	ENSP00000281589:G558D	ENSP00000281589:G558D	G	+	2	0	PABPC3	24570009	1.000000	0.71417	0.948000	0.38648	0.174000	0.22865	6.590000	0.74085	0.759000	0.33084	0.313000	0.20887	GGT	-	pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD,tigrfam_PABP_1234		0.438	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	protein_coding	OTTHUMT00000044220.2	G	NM_030979	-		25672009	1	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25672009	G	A	25672009	3	1	196	1	0	0	0	0	1	0	0	0	11367	1261	44	2	1675	2	PABPC3	13	25672009	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	874936	25672009	89497869	1579	14851											
GPR12	2835	genome.wustl.edu	37	chr13	27333164	27333164	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctatcaaggaatagagggtGaaaggcatccagcaagcagc	13	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:27333164G>T	ENST00000381436.2	-	1	1263	c.801C>A	c.(799-801)ttC>ttA	p.F267L	GPR12_ENST00000405846.3_Missense_Mutation_p.F267L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	267					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AATAGAGGGTGAAAGGCATCC	0.552																																																	0								ENSG00000132975						105	101	102					13																	27333164		2203	4300	6503	GPR12	SO:0001583	missense	0			-	HGNC	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.801C>A	13.37:g.27333164G>T	ENSP00000370844:p.Phe267Leu	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q5T8P3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.F267L	ENST00000381436.2	37	c.801	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087482	0.20390	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.72942	-0.7;-0.7	5.33	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.39326	1.205	0.58432	D	0.999995	B	0.26708	0.157	B	0.38803	0.282	T	0.56673	-0.7940	10	0.20046	T	0.44	.	9.4491	0.38714	0.2223:0.0:0.7777:0.0	.	267	P47775	GPR12_HUMAN	L	267	ENSP00000384932:F267L;ENSP00000370844:F267L	ENSP00000370844:F267L	F	-	3	2	GPR12	26231164	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.505000	0.22642	1.264000	0.44198	0.561000	0.74099	TTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	protein_coding	OTTHUMT00000044257.2	G		-		27333164	-1	no_errors	ENST00000381436	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27333164	G	T	27333164	3	4	196	1	0	0	0	0	1	0	0	0	6637	1281	45	3	207	3	GPR12	13	27333164	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1661155	27333164	87836714	1580	14852											
FLT1	2321	genome.wustl.edu	37	chr13	28979973	28979973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctctcaattctgtttcCcatgttgctgtcagcatcca	7	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:28979973C>T	ENST00000282397.4	-	11	1746	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	FLT1_ENST00000541932.1_Missense_Mutation_p.G499R|FLT1_ENST00000539099.1_Missense_Mutation_p.G499R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	499	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)	ATTCTGTTTCCCATGTTGCTG	0.368																																																	0								ENSG00000102755						184	177	179					13																	28979973		2203	4300	6503	FLT1	SO:0001583	missense	0			-	HGNC	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.1495G>A	13.37:g.28979973C>T	ENSP00000282397:p.Gly499Arg	Somatic	0	57	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.G499R	ENST00000282397.4	37	c.1495	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398425	0.83120	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.75477	-0.94;-0.37;-0.23	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.116329	0.56097	D	0.000024	D	0.88385	0.6422	M	0.90019	3.08	0.54753	D	0.999985	D;D;D;D	0.76494	0.999;0.999;0.999;0.994	D;D;D;D	0.72982	0.979;0.979;0.979;0.95	D	0.85178	0.1002	10	0.18710	T	0.47	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	499;499;499;499	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	R	499	ENSP00000282397:G499R;ENSP00000437631:G499R;ENSP00000442630:G499R	ENSP00000282397:G499R	G	-	1	0	FLT1	27877973	0.999000	0.42202	0.980000	0.43619	0.994000	0.84299	5.317000	0.65822	2.854000	0.98071	0.655000	0.94253	GGA	-	smart_Ig_sub,pfscan_Ig-like_dom		0.368	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	protein_coding	OTTHUMT00000044322.1	C		-		28979973	-1	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	SNP	0.998	T	T	28979973	C	T	28979973	3	4	196	1	0	0	0	0	1	0	0	0	5943	632	22	2	2864	2	FLT1	13	28979973	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1646809	28979973	86189905	1581	14853											
MTUS2	23281	genome.wustl.edu	37	chr13	29600198	29600198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccttggatgtcattgagGaggaaaggcggttgggcagt	17	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:29600198G>A	ENST00000431530.3	+	1	1451	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	455						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						TGTCATTGAGGAGGAAAGGCG	0.493																																																	0								ENSG00000132938						71	74	73					13																	29600198		1937	4134	6071	MTUS2	SO:0001583	missense	0			-	HGNC	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.1393G>A	13.37:g.29600198G>A	ENSP00000392057:p.Glu465Lys	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP							NULL	p.E465K	ENST00000431530.3	37	c.1393	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	12.98	2.101636	0.37048	.	.	ENSG00000132938	ENST00000431530	T	0.12569	2.67	5.92	1.76	0.24704	.	0.870472	0.09949	N	0.734953	T	0.10852	0.0265	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.38650	-0.9651	9	.	.	.	.	4.1839	0.10388	0.3358:0.1903:0.4739:0.0	.	455	Q5JR59	MTUS2_HUMAN	K	465	ENSP00000392057:E465K	.	E	+	1	0	MTUS2	28498198	0.694000	0.27738	0.001000	0.08648	0.044000	0.14063	0.294000	0.19047	0.317000	0.23160	0.655000	0.94253	GAG	-	NULL		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	G	XM_166270	-		29600198	1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	SNP	0.001	A	A	29600198	G	A	29600198	3	1	196	1	0	0	0	0	1	0	0	0	9968	1175	41	2	1395	2	MTUS2	13	29600198	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	620225	29600198	85569680	1582	14854											
MTUS2	23281	genome.wustl.edu	37	chr13	30062139	30062139	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaccacgaccacaaagtcCaaggtagctcccagcctcgt	8	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:30062139C>T	ENST00000380808.2	+	4	655	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	MTUS2_ENST00000542829.1_Nonsense_Mutation_p.Q57*|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Nonsense_Mutation_p.Q1178*|MTUS2-AS1_ENST00000323380.5_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1168						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						CCACAAAGTCCAAGGTAGCTC	0.572																																																	0								ENSG00000132938						78	80	80					13																	30062139		2071	4222	6293	MTUS2	SO:0001587	stop_gained	0			-	HGNC	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	ENST00000380808.2:c.439C>T	13.37:g.30062139C>T	ENSP00000370186:p.Gln147*	Somatic	0	33	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	16.00	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP							NULL	p.Q1178*	ENST00000380808.2	37	c.3532	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.668852	0.98422	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	.	.	.	4.58	4.58	0.56647	.	0.390736	0.30686	N	0.009081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2083	0.65748	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;147;57;104	.	.	Q	+	1	0	MTUS2	28960139	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.497000	0.45354	2.378000	0.81104	0.561000	0.74099	CAA	-	NULL		0.572	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044335.2	C	XM_166270	-		30062139	1	no_errors	ENST00000431530	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	30062139	C	T	30062139	4	4	196	1	0	0	0	0	0	1	0	0	9968	595	21	2	3624	2	MTUS2	13	30062139	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	461941	30062139	85107739	1583	14855											
HSPH1	10808	genome.wustl.edu	37	chr13	31725864	31725864	+	Missense_Mutation	SNP	C	C	T													ggagatcctgcttataaattCcgtaattcaaagcaactaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:31725864C>T	ENST00000320027.5	-	6	889	c.545G>A	c.(544-546)gGa>gAa	p.G182E	HSPH1_ENST00000380406.5_Missense_Mutation_p.G141E|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.G184E|HSPH1_ENST00000380405.4_Missense_Mutation_p.G182E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	182					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTTATAAATTCCGTAATTCAA	0.363																																																	0								ENSG00000120694						68	66	66					13																	31725864		2203	4300	6503	HSPH1	SO:0001583	missense	0			-	HGNC	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.545G>A	13.37:g.31725864C>T	ENSP00000318687:p.Gly182Glu	Somatic	0	55	0		0.52429534266604	21	4.55	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G184E	ENST00000320027.5	37	c.551	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043527	0.93685	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	H	0.97315	3.98	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;0.999;0.999;0.999	T	0.62129	-0.6919	10	0.87932	D	0	-29.4283	20.4379	0.99098	0.0:1.0:0.0:0.0	.	141;184;182;182	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	E	182;182;141;184;233	ENSP00000318687:G182E;ENSP00000369768:G182E;ENSP00000369769:G141E;ENSP00000396090:G184E	ENSP00000318687:G182E	G	-	2	0	HSPH1	30623864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.838000	0.97847	0.585000	0.79938	GGA	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	protein_coding	OTTHUMT00000044384.1	C		-		31725864	-1	no_errors	ENST00000445273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31725864	C	T	31725864	3	4	196	1	0	0	0	0	1	0	0	0	7433	855	30	2	2083	2	HSPH1	13	31725864	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1663725	31725864	83444014	1584	14856	321	2									
HSPH1	10808	genome.wustl.edu	37	chr13	31725865	31725865	+	Missense_Mutation	SNP	C	C	T													gagatcctgcttataaattcCgtaattcaaagcaactacaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:31725865C>T	ENST00000320027.5	-	6	888	c.544G>A	c.(544-546)Gga>Aga	p.G182R	HSPH1_ENST00000380406.5_Missense_Mutation_p.G141R|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.G184R|HSPH1_ENST00000380405.4_Missense_Mutation_p.G182R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	182					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTATAAATTCCGTAATTCAAA	0.363																																																	0								ENSG00000120694						68	66	66					13																	31725865		2203	4300	6503	HSPH1	SO:0001583	missense	0			-	HGNC	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.544G>A	13.37:g.31725865C>T	ENSP00000318687:p.Gly182Arg	Somatic	0	55	0		0.52429534266604	20	4.76	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G184R	ENST00000320027.5	37	c.550	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.109052	0.94292	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	H	0.97315	3.98	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;0.999;0.999;0.999	T	0.62129	-0.6919	10	0.87932	D	0	-29.4283	20.4379	0.99098	0.0:1.0:0.0:0.0	.	141;184;182;182	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	R	182;182;141;184;233	ENSP00000318687:G182R;ENSP00000369768:G182R;ENSP00000369769:G141R;ENSP00000396090:G184R	ENSP00000318687:G182R	G	-	1	0	HSPH1	30623865	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.838000	0.97847	0.585000	0.79938	GGA	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	protein_coding	OTTHUMT00000044384.1	C		-		31725865	-1	no_errors	ENST00000445273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31725865	C	T	31725865	3	4	196	1	0	0	0	0	1	0	0	0	7433	661	23	1	2084	1	HSPH1	13	31725865	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	31725865	83444013	1585	14857	321	2									
RXFP2	122042	genome.wustl.edu	37	chr13	32332464	32332464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattttccctgtgggaatcTtaccaagtgcttaccccgag	8	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:32332464T>C	ENST00000298386.2	+	2	235	c.164T>C	c.(163-165)cTt>cCt	p.L55P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L55P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	55	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGTGGGAATCTTACCAAGTGC	0.498																																																	0								ENSG00000133105						170	159	162					13																	32332464		2203	4300	6503	RXFP2	SO:0001583	missense	0			-	HGNC	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.164T>C	13.37:g.32332464T>C	ENSP00000298386:p.Leu55Pro	Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	B1ALE9|Q3KU23	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.L55P	ENST00000298386.2	37	c.164	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055466	0.75960	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	D;D	0.90955	-2.76;-2.76	5.44	5.44	0.79542	.	0.392895	0.26939	N	0.021737	D	0.89894	0.6847	L	0.31752	0.955	0.58432	D	0.999999	P;P	0.51933	0.949;0.949	P;P	0.56865	0.808;0.808	D	0.88112	0.2826	10	0.27082	T	0.32	.	13.5018	0.61459	0.0:0.0:0.0:1.0	.	55;55	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	P	55	ENSP00000369670:L55P;ENSP00000298386:L55P	ENSP00000298386:L55P	L	+	2	0	RXFP2	31230464	0.817000	0.29147	0.901000	0.35422	0.994000	0.84299	4.964000	0.63701	2.073000	0.62155	0.524000	0.50904	CTT	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt		0.498	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	protein_coding	OTTHUMT00000044399.1	T	NM_130806	-		32332464	1	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	SNP	0.984	C	C	32332464	T	C	32332464	3	2	196	1	0	0	0	0	1	0	0	0	13768	1609	56	5	170	5	RXFP2	13	32332464	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	606599	32332464	82837414	1586	14858											
N4BP2L2	10443	genome.wustl.edu	37	chr13	33018251	33018251	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcctatgcccagttttcttCaaaactctttctctgaaata	4	11	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:33018251C>A	ENST00000504114.1	-	6	469	c.378G>T	c.(376-378)ttG>ttT	p.L126F	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.L141F|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.L126F			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAGTTTTCTTCAAAACTCTTT	0.323																																																	0								ENSG00000244754						26	26	26					13																	33018251		1813	4069	5882	N4BP2L2	SO:0001583	missense	0			-	HGNC	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.378G>T	13.37:g.33018251C>A	ENSP00000427477:p.Leu126Phe	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A3KME8	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.L141F	ENST00000504114.1	37	c.423		13	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174653	0.38413	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.03	3.18	0.36537	.	1.052470	0.07537	N	0.913240	T	0.52108	0.1714	M	0.62723	1.935	0.19575	N	0.999966	P;P;D;D	0.54047	0.815;0.815;0.964;0.964	P;P;P;P	0.53185	0.509;0.509;0.72;0.72	T	0.31806	-0.9930	10	0.62326	D	0.03	-7.0E-4	6.9739	0.24664	0.0:0.6391:0.0:0.3609	.	126;141;24;24	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	F	24;53;126;126;141;570	ENSP00000427477:L126F;ENSP00000350104:L126F;ENSP00000382328:L141F;ENSP00000423362:L570F	ENSP00000350104:L126F	L	-	3	2	N4BP2L2;RP11-298P3.4	31916251	0.953000	0.32496	0.077000	0.20336	0.674000	0.39518	0.367000	0.20382	0.422000	0.26005	-0.345000	0.07892	TTG	-	NULL		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	N4BP2L2	protein_coding	OTTHUMT00000361380.1	C	NM_014887	-		33018251	-1	no_errors	ENST00000399396	ensembl	human	known	74_37	missense	SNP	0.499	A	A	33018251	C	A	33018251	3	1	196	1	0	0	0	0	1	0	0	0	10114	825	29	3	1847	3	N4BP2L2	13	33018251	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	685787	33018251	82151627	1587	14859											
NBEA	26960	genome.wustl.edu	37	chr13	35733976	35733976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgagcagtatttctgaaaGagacttagcgtcatcaacta	8	7	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:35733976G>T	ENST00000400445.3	+	22	4202	c.3668G>T	c.(3667-3669)aGa>aTa	p.R1223I	NBEA_ENST00000540320.1_Missense_Mutation_p.R1223I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1223I|NBEA_ENST00000310336.4_Missense_Mutation_p.R1223I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1223					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTCTGAAAGAGACTTAGCG	0.373																																																	0								ENSG00000172915						55	56	56					13																	35733976		1884	4111	5995	NBEA	SO:0001583	missense	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3668G>T	13.37:g.35733976G>T	ENSP00000383295:p.Arg1223Ile	Somatic	0	61	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R1223I	ENST00000400445.3	37	c.3668	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245712	0.39697	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.06	6.06	0.98353	.	0.239678	0.43747	D	0.000539	T	0.33702	0.0872	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.15870	0.014	T	0.08452	-1.0721	10	0.38643	T	0.18	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	1223	Q5T321	.	I	1223	ENSP00000440951:R1223I;ENSP00000383295:R1223I;ENSP00000369271:R1223I;ENSP00000308534:R1223I	ENSP00000308534:R1223I	R	+	2	0	NBEA	34631976	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.458000	0.66679	2.880000	0.98712	0.650000	0.86243	AGA	-	NULL		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		G	NM_015678	-		35733976	1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35733976	G	T	35733976	3	4	196	1	0	0	0	0	1	0	0	0	10189	942	33	3	3754	3	NBEA	13	35733976	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2715725	35733976	79435902	1588	14860											
MAB21L1	4081	genome.wustl.edu	37	chr13	36049199	36049199	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgattaaatcatcctctaAagtttttccaaacttttcgg	4	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:36049199A>T	ENST00000379919.4	-	1	1633	c.1077T>A	c.(1075-1077)ctT>ctA	p.L359L	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	359					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCATCCTCTAAAGTTTTTCCA	0.418																																																	0								ENSG00000180660						64	70	68					13																	36049199		2203	4300	6503	MAB21L1	SO:0001819	synonymous_variant	0			-	HGNC	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.1077T>A	13.37:g.36049199A>T		Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	Q6I9T5	Silent	SNP							pfam_Mab-21_dom	p.L359	ENST00000379919.4	37	c.1077	CCDS9353.1	13																																																																																			-	pfam_Mab-21_dom		0.418	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	protein_coding	OTTHUMT00000044459.3	A	NM_005584	-		36049199	-1	no_errors	ENST00000379919	ensembl	human	known	74_37	silent	SNP	1.000	T	T	36049199	A	T	36049199	2	4	196	1	0	0	0	0	0	0	0	1	9143	1	1	5		5	MAB21L1	13	36049199	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	315223	36049199	79120679	1589	14861											
NBEA	26960	genome.wustl.edu	37	chr13	36223811	36223811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttccttccacagagtcCgctcatgtttaaagatcaga	8	10	2	3	rs368659677		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:36223811C>T	ENST00000400445.3	+	51	8261	c.7727C>T	c.(7726-7728)cCg>cTg	p.P2576L	NBEA_ENST00000537702.1_Missense_Mutation_p.P369L|NBEA_ENST00000540320.1_Missense_Mutation_p.P2576L|NBEA_ENST00000379922.3_Missense_Mutation_p.P154L|NBEA_ENST00000379939.2_Missense_Mutation_p.P2573L|NBEA_ENST00000310336.4_Missense_Mutation_p.P2576L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2576					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCACAGAGTCCGCTCATGTTT	0.433																																																	0								ENSG00000172915	C	LEU/PRO,LEU/PRO	0,3934		0,0,1967	206	199	201		1106,7727	5.4	1	13		201	1,8293		0,1,4146	no	missense,missense	NBEA	NM_001204197.1,NM_015678.4	98,98	0,1,6113	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	369/740,2576/2947	36223811	1,12227	1967	4147	6114	NBEA	SO:0001583	missense	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7727C>T	13.37:g.36223811C>T	ENSP00000383295:p.Pro2576Leu	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.P2576L	ENST00000400445.3	37	c.7727	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683242	0.88542	0.0	1.21E-4	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.71206	2.165	0.80722	D	1	B;D;B	0.63046	0.293;0.992;0.414	B;P;B	0.53861	0.081;0.736;0.112	T	0.80677	-0.1276	10	0.48119	T	0.1	.	19.1733	0.93590	0.0:1.0:0.0:0.0	.	2576;154;2573	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	L	2576;2576;2573;2576;1203;154;369;154	ENSP00000440951:P2576L;ENSP00000383295:P2576L;ENSP00000369271:P2573L;ENSP00000308534:P2576L;ENSP00000440233:P369L;ENSP00000369254:P154L	ENSP00000308534:P2576L	P	+	2	0	NBEA	35121811	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.683000	0.84093	2.541000	0.85698	0.563000	0.77884	CCG	-	NULL		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		C	NM_015678	-		36223811	1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36223811	C	T	36223811	3	4	196	1	0	0	0	0	1	0	0	0	10189	652	23	1	7929	1	NBEA	13	36223811	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	174612	36223811	78946067	1590	14862											
TRPC4	7223	genome.wustl.edu	37	chr13	38266464	38266464	+	Silent	SNP	G	G	A													agctgttgacaattgggctgGgcaacaaactaaacagaagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:38266464G>A	ENST00000379705.3	-	4	1763	c.906C>T	c.(904-906)gcC>gcT	p.A302A	TRPC4_ENST00000379679.1_Silent_p.A129A|TRPC4_ENST00000379673.2_Silent_p.A302A|TRPC4_ENST00000447043.1_Silent_p.A302A|TRPC4_ENST00000379681.3_Silent_p.A302A|TRPC4_ENST00000355779.2_Silent_p.A302A|TRPC4_ENST00000338947.5_Silent_p.A129A|TRPC4_ENST00000358477.2_Silent_p.A302A|TRPC4_ENST00000426868.2_Silent_p.A302A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	302	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTGGGCTGGGCAACAAACT	0.433																																																	0								ENSG00000133107						52	42	46					13																	38266464		2203	4300	6503	TRPC4	SO:0001819	synonymous_variant	0			-	HGNC	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.906C>T	13.37:g.38266464G>A		Somatic	0	19	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A302	ENST00000379705.3	37	c.906	CCDS9365.1	13																																																																																			-	tigrfam_TRP_channel		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	protein_coding	OTTHUMT00000044574.2	G	NM_003306	-		38266464	-1	no_errors	ENST00000379681	ensembl	human	known	74_37	silent	SNP	0.998	A	A	38266464	G	A	38266464	2	1	196	1	0	0	0	0	0	0	0	1	16587	1219	43	2		2	TRPC4	13	38266464	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2042653	38266464	76903414	1591	14863	322	2									
TRPC4	7223	genome.wustl.edu	37	chr13	38266465	38266465	+	Missense_Mutation	SNP	G	G	A													gctgttgacaattgggctggGcaacaaactaaacagaaggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:38266465G>A	ENST00000379705.3	-	4	1762	c.905C>T	c.(904-906)gCc>gTc	p.A302V	TRPC4_ENST00000379679.1_Missense_Mutation_p.A129V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A302V|TRPC4_ENST00000447043.1_Missense_Mutation_p.A302V|TRPC4_ENST00000379681.3_Missense_Mutation_p.A302V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A302V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A129V|TRPC4_ENST00000358477.2_Missense_Mutation_p.A302V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A302V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	302	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATTGGGCTGGGCAACAAACTA	0.433																																																	0								ENSG00000133107						52	42	45					13																	38266465		2203	4300	6503	TRPC4	SO:0001583	missense	0			-	HGNC	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.905C>T	13.37:g.38266465G>A	ENSP00000369027:p.Ala302Val	Somatic	0	19	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A302V	ENST00000379705.3	37	c.905	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.250182	0.95305	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	M	0.93763	3.455	0.80722	D	1	D;D;D;D;P;D	0.67145	0.966;0.966;0.996;0.994;0.937;0.988	P;P;D;D;P;P	0.77557	0.852;0.852;0.99;0.945;0.852;0.87	D	0.91272	0.5045	10	0.72032	D	0.01	-14.1265	19.0681	0.93122	0.0:0.0:1.0:0.0	.	302;302;302;129;302;302	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	302;302;129;129;302;302;302;302;302	ENSP00000369027:A302V;ENSP00000369003:A302V;ENSP00000342580:A129V;ENSP00000369001:A129V;ENSP00000410133:A302V;ENSP00000348025:A302V;ENSP00000351264:A302V;ENSP00000368995:A302V;ENSP00000414316:A302V	ENSP00000342580:A129V	A	-	2	0	TRPC4	37164465	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.690000	0.98676	2.573000	0.86826	0.467000	0.42956	GCC	-	tigrfam_TRP_channel		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	protein_coding	OTTHUMT00000044574.2	G	NM_003306	-		38266465	-1	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38266465	G	A	38266465	3	1	196	1	0	0	0	0	1	0	0	0	16587	1203	42	2	2075	2	TRPC4	13	38266465	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	38266465	76903413	1592	14864	322	2									
FREM2	341640	genome.wustl.edu	37	chr13	39425879	39425879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgaacccaaagaacctGgagagtcggtggttataaga	11	8	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:39425879G>A	ENST00000280481.7	+	11	7015	c.6799G>A	c.(6799-6801)Gga>Aga	p.G2267R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2267	Calx-beta 5.				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)		CAAAGAACCTGGAGAGTCGGT	0.423																																																	0								ENSG00000150893						59	60	60					13																	39425879		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.6799G>A	13.37:g.39425879G>A	ENSP00000280481:p.Gly2267Arg	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.42	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G2267R	ENST00000280481.7	37	c.6799	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041670	0.35989	.	.	ENSG00000150893	ENST00000280481	T	0.21031	2.03	5.62	3.63	0.41609	Na-Ca exchanger/integrin-beta4 (2);	0.278909	0.37906	N	0.001887	T	0.18002	0.0432	L	0.35644	1.08	0.50039	D	0.999847	B;B	0.23591	0.088;0.029	B;B	0.31337	0.128;0.076	T	0.05289	-1.0894	10	0.44086	T	0.13	.	9.0977	0.36649	0.2612:0.0:0.7387:0.0	.	2267;2267	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	R	2267	ENSP00000280481:G2267R	ENSP00000280481:G2267R	G	+	1	0	FREM2	38323879	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	3.455000	0.52993	1.378000	0.46305	0.650000	0.86243	GGA	-	pfam_Calx_beta,smart_Calx_beta		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	G	NM_207361	-		39425879	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	0.860	A	A	39425879	G	A	39425879	3	1	196	1	0	0	0	0	1	0	0	0	6047	1349	47	2	6841	2	FREM2	13	39425879	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1159414	39425879	75743999	1593	14865											
KBTBD7	84078	genome.wustl.edu	37	chr13	41766984	41766984	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggaatagaaggaatgaggGacaggagccaccaatgccca	13	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:41766984G>A	ENST00000379483.3	-	1	1718	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	470										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGAATGAGGGACAGGAGCCA	0.443																																																	0								ENSG00000120696						82	74	77					13																	41766984		2203	4300	6503	KBTBD7	SO:0001819	synonymous_variant	0			-	HGNC	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1410C>T	13.37:g.41766984G>A		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP							pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V470	ENST00000379483.3	37	c.1410	CCDS9377.1	13																																																																																			-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.443	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	protein_coding	OTTHUMT00000044660.1	G	NM_032138	-		41766984	-1	no_errors	ENST00000379483	ensembl	human	known	74_37	silent	SNP	1.000	A	A	41766984	G	A	41766984	2	1	196	1	0	0	0	0	0	0	0	1	8000	1161	41	2		2	KBTBD7	13	41766984	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2341105	41766984	73402894	1594	14866											
DGKH	160851	genome.wustl.edu	37	chr13	42773788	42773788	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attagaatttaataataaaaGagaggagcaccctgaaaaat	7	4	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:42773788G>A	ENST00000337343.4	+	19	2393	c.2372G>A	c.(2371-2373)aGa>aAa	p.R791K	DGKH_ENST00000261491.5_Missense_Mutation_p.R791K|DGKH_ENST00000540693.1_Missense_Mutation_p.R791K|DGKH_ENST00000379274.2_Missense_Mutation_p.R655K|DGKH_ENST00000538674.1_Missense_Mutation_p.R546K|DGKH_ENST00000536612.1_Missense_Mutation_p.R655K|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	791					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATAATAAAAGAGAGGAGCAC	0.294																																																	0								ENSG00000102780						21	23	22					13																	42773788		2173	4274	6447	DGKH	SO:0001583	missense	0			-	HGNC	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2372G>A	13.37:g.42773788G>A	ENSP00000337572:p.Arg791Lys	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	50	24.24	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R791K	ENST00000337343.4	37	c.2372	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.332374	0.95733	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.999;0.997;0.999	D	0.90385	0.4391	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	546;655;791;791	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	K	791;791;791;655;655;546	ENSP00000440823:R791K;ENSP00000337572:R791K;ENSP00000261491:R791K;ENSP00000368576:R655K;ENSP00000445114:R655K;ENSP00000441308:R546K	ENSP00000261491:R791K	R	+	2	0	DGKH	41671788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.827000	0.99397	2.727000	0.93392	0.591000	0.81541	AGA	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.294	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	protein_coding	OTTHUMT00000044699.2	G	NM_178009	-		42773788	1	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42773788	G	A	42773788	3	1	196	1	0	0	0	0	1	0	0	0	4472	942	33	2	2446	2	DGKH	13	42773788	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1006804	42773788	72396090	1595	14867											
CYSLTR2	57105	genome.wustl.edu	37	chr13	49280957	49280957	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttctttttaacccagcatgGagagaaaatttatgtccttg	7	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:49280957G>T	ENST00000282018.3	+	1	7	c.4G>T	c.(4-6)Gag>Tag	p.E2*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	2					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACCCAGCATGGAGAGAAAATT	0.368																																																	0								ENSG00000152207						62	65	64					13																	49280957		2203	4300	6503	CYSLTR2	SO:0001587	stop_gained	0			-	HGNC	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.4G>T	13.37:g.49280957G>T	ENSP00000282018:p.Glu2*	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	Q9HCQ2	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt	p.E2*	ENST00000282018.3	37	c.4	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493839	0.64186	.	.	ENSG00000152207	ENST00000282018	.	.	.	5.35	1.58	0.23477	.	2.244820	0.02567	U	0.097405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	5.1079	0.14794	0.2999:0.2723:0.4278:0.0	.	.	.	.	X	2	.	ENSP00000282018:E2X	E	+	1	0	CYSLTR2	48178958	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.201000	0.17276	0.427000	0.26145	0.655000	0.94253	GAG	-	NULL		0.368	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	protein_coding	OTTHUMT00000044894.1	G		-		49280957	1	no_errors	ENST00000282018	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	49280957	G	T	49280957	4	4	196	1	0	0	0	0	0	1	0	0	4204	1175	41	3	6	3	CYSLTR2	13	49280957	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6507169	49280957	65888921	1596	14868											
CYSLTR2	57105	genome.wustl.edu	37	chr13	49281074	49281074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttcaagagagaatttTtcccaattgtatatctgata	5	6	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:49281074T>C	ENST00000282018.3	+	1	124	c.121T>C	c.(121-123)Ttc>Ctc	p.F41L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	41					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAGAGAATTTTTCCCAATTGT	0.393																																																	0								ENSG00000152207						83	88	86					13																	49281074		2203	4300	6503	CYSLTR2	SO:0001583	missense	0			-	HGNC	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.121T>C	13.37:g.49281074T>C	ENSP00000282018:p.Phe41Leu	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	Q9HCQ2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt	p.F41L	ENST00000282018.3	37	c.121	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790507	0.50102	.	.	ENSG00000152207	ENST00000282018	T	0.28666	1.6	6.08	6.08	0.98989	.	0.089817	0.46145	D	0.000301	T	0.15609	0.0376	N	0.08118	0	0.39271	D	0.964399	B	0.17667	0.023	B	0.14023	0.01	T	0.10222	-1.0639	10	0.02654	T	1	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	41	Q9NS75	CLTR2_HUMAN	L	41	ENSP00000282018:F41L	ENSP00000282018:F41L	F	+	1	0	CYSLTR2	48179075	1.000000	0.71417	0.999000	0.59377	0.254000	0.26022	6.007000	0.70731	2.333000	0.79357	0.533000	0.62120	TTC	-	pfam_TAS2_rcpt,prints_GPCR_Rhodpsn,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt		0.393	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	protein_coding	OTTHUMT00000044894.1	T		-		49281074	1	no_errors	ENST00000282018	ensembl	human	known	74_37	missense	SNP	1.000	C	C	49281074	T	C	49281074	3	2	196	1	0	0	0	0	1	0	0	0	4204	1841	64	5	123	5	CYSLTR2	13	49281074	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	117	49281074	65888804	1597	14869											
RCBTB1	55213	genome.wustl.edu	37	chr13	50129763	50129763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagttggttgatttgctgtaGaacctgatcccacttggcca	11	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:50129763G>A	ENST00000378302.2	-	6	751	c.491C>T	c.(490-492)tCt>tTt	p.S164F	RCBTB1_ENST00000546015.1_Missense_Mutation_p.S164F|RCBTB1_ENST00000258646.3_Missense_Mutation_p.S164F	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	164					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		ATTTGCTGTAGAACCTGATCC	0.418																																																	0								ENSG00000136144						153	131	139					13																	50129763		2203	4300	6503	RCBTB1	SO:0001583	missense	0			-	HGNC	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.491C>T	13.37:g.50129763G>A	ENSP00000367552:p.Ser164Phe	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	Q8IY29|Q969U9	Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S164F	ENST00000378302.2	37	c.491	CCDS9418.1	13	.	.	.	.	.	.	.	.	.	.	G	30	5.054075	0.93793	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.81659	-1.52;-1.52;-1.52	5.22	5.22	0.72569	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.049130	0.85682	D	0.000000	D	0.89674	0.6783	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	D	0.73708	0.981	D	0.90432	0.4425	10	0.72032	D	0.01	-17.8204	19.1538	0.93502	0.0:0.0:1.0:0.0	.	164	Q8NDN9	RCBT1_HUMAN	F	164	ENSP00000258646:S164F;ENSP00000367552:S164F;ENSP00000443293:S164F	ENSP00000258646:S164F	S	-	2	0	RCBTB1	49027764	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.476000	0.97823	2.597000	0.87782	0.655000	0.94253	TCT	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.418	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB1	protein_coding	OTTHUMT00000044912.2	G	NM_018191	-		50129763	-1	no_errors	ENST00000258646	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50129763	G	A	50129763	3	1	196	1	0	0	0	0	1	0	0	0	13179	942	33	2	1136	2	RCBTB1	13	50129763	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	848689	50129763	65040115	1598	14870											
CCDC70	83446	genome.wustl.edu	37	chr13	52439835	52439835	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaaagaggaaaaatccttCtgggaaatggaaaagtcttt	11	4	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:52439835C>T	ENST00000242819.4	+	2	617	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	107						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAAATCCTTCTGGGAAATGG	0.468																																																	0								ENSG00000123171						70	84	79					13																	52439835		2203	4300	6503	CCDC70	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.321C>T	13.37:g.52439835C>T		Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q8N7A8|Q9H097	Silent	SNP							NULL	p.F107	ENST00000242819.4	37	c.321	CCDS9431.1	13																																																																																			-	NULL		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC70	protein_coding	OTTHUMT00000045033.2	C	NM_031290	-		52439835	1	no_errors	ENST00000242819	ensembl	human	known	74_37	silent	SNP	0.001	T	T	52439835	C	T	52439835	2	4	196	1	0	0	0	0	0	0	0	1	2845	912	32	2		2	CCDC70	13	52439835	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2310072	52439835	62730043	1599	14871											
PCDH9	5101	genome.wustl.edu	37	chr13	67205408	67205408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggcctggtcatagaattCgtcctgtggctgaaccagag	13	9	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:67205408C>T	ENST00000377865.2	-	3	3408	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	PCDH9_ENST00000544246.1_Missense_Mutation_p.E1092K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E1058K|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.E1058K			Q9HC56	PCDH9_HUMAN	protocadherin 9	1092					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATAGAATTCGTCCTGTGGC	0.532																																																	0								ENSG00000184226						124	115	118					13																	67205408		2203	4300	6503	PCDH9	SO:0001583	missense	0			-	HGNC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3274G>A	13.37:g.67205408C>T	ENSP00000367096:p.Glu1092Lys	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	42	19.23	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1092K	ENST00000377865.2	37	c.3274	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	31	5.102441	0.94245	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57752	0.46;0.46;0.38;0.38	5.6	5.6	0.85130	.	0.418771	0.23686	N	0.045563	T	0.50582	0.1624	L	0.46157	1.445	0.48830	D	0.999711	P;P;P	0.50943	0.878;0.875;0.94	B;B;B	0.40375	0.231;0.327;0.298	T	0.58370	-0.7648	10	0.87932	D	0	.	19.601	0.95561	0.0:1.0:0.0:0.0	.	1050;1058;1092	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	K	1092;1092;1058;1058	ENSP00000442186:E1092K;ENSP00000367096:E1092K;ENSP00000401699:E1058K;ENSP00000332060:E1058K	ENSP00000332060:E1058K	E	-	1	0	PCDH9	66103409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.684000	0.68197	2.631000	0.89168	0.655000	0.94253	GAA	-	NULL		0.532	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	protein_coding	OTTHUMT00000276387.1	C	NM_203487	-		67205408	-1	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67205408	C	T	67205408	3	4	196	1	0	0	0	0	1	0	0	0	11520	893	31	1	447	1	PCDH9	13	67205408	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	14765573	67205408	47964470	1600	14872											
PCDH9	5101	genome.wustl.edu	37	chr13	67802372	67802372	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatccccagctttagaAaccagtctgtagacaaggct	11	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:67802372A>T	ENST00000377865.2	-	1	335	c.201T>A	c.(199-201)gtT>gtA	p.V67V	PCDH9_ENST00000544246.1_Silent_p.V67V|PCDH9_ENST00000456367.1_Silent_p.V67V|PCDH9_ENST00000377861.3_Silent_p.V67V|PCDH9_ENST00000328454.5_Silent_p.V67V			Q9HC56	PCDH9_HUMAN	protocadherin 9	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAGCTTTAGAAACCAGTCTGT	0.483																																																	0								ENSG00000184226						72	70	71					13																	67802372		2203	4300	6503	PCDH9	SO:0001819	synonymous_variant	0			-	HGNC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.201T>A	13.37:g.67802372A>T		Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V67	ENST00000377865.2	37	c.201	CCDS9444.1	13																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	protein_coding	OTTHUMT00000276387.1	A	NM_203487	-		67802372	-1	no_errors	ENST00000377865	ensembl	human	known	74_37	silent	SNP	1.000	T	T	67802372	A	T	67802372	2	4	196	1	0	0	0	0	0	0	0	1	11520	1	1	5		5	PCDH9	13	67802372	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	596964	67802372	47367506	1601	14873											
LMO7	4008	genome.wustl.edu	37	chr13	76407265	76407265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggtttacaataaaatggGatattcctgggatcttcgta	10	5	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:76407265G>A	ENST00000321797.8	+	14	3050	c.2329G>A	c.(2329-2331)Gat>Aat	p.D777N	LMO7_ENST00000526202.1_Missense_Mutation_p.D627N|LMO7_ENST00000357063.3_Missense_Mutation_p.D1062N|LMO7_ENST00000377534.3_Missense_Mutation_p.D1062N|LMO7_ENST00000341547.4_Missense_Mutation_p.D728N|LMO7_ENST00000465261.2_Missense_Mutation_p.D777N			Q8WWI1	LMO7_HUMAN	LIM domain 7	1062					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATAAAATGGGATATTCCTGG	0.398																																																	0								ENSG00000136153						142	141	141					13																	76407265		2203	4300	6503	LMO7	SO:0001583	missense	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2329G>A	13.37:g.76407265G>A	ENSP00000317802:p.Asp777Asn	Somatic	0	91	0		0.52429534266604	2	77.78	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	57	19.72	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP							pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.D1062N	ENST00000321797.8	37	c.3184		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.279266|2.279266	0.40294|0.40294	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038	T;T;T;T;T;T;T|.	0.26223|.	1.75;1.75;1.75;1.75;1.75;1.75;1.75|.	5.3|5.3	3.58|3.58	0.41010|0.41010	PDZ/DHR/GLGF (4);|.	0.736239|.	0.13709|.	N|.	0.368224|.	T|T	0.42765|0.42765	0.1217|0.1217	L|L	0.31578|0.31578	0.945|0.945	0.53005|0.53005	D|D	0.999969|0.999969	B;B;P;B;B|.	0.35226|.	0.016;0.051;0.491;0.016;0.011|.	B;B;B;B;B|.	0.34536|.	0.012;0.018;0.185;0.012;0.055|.	T|T	0.16482|0.16482	-1.0401|-1.0401	10|5	0.27785|.	T|.	0.31|.	-1.4743|-1.4743	6.8816|6.8816	0.24177|0.24177	0.3895:0.0:0.6105:0.0|0.3895:0.0:0.6105:0.0	.|.	627;728;1062;777;1010|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	N|E	728;1062;1062;676;777;627;777|685	ENSP00000342112:D728N;ENSP00000349571:D1062N;ENSP00000366757:D1062N;ENSP00000366719:D676N;ENSP00000317802:D777N;ENSP00000431129:D627N;ENSP00000433352:D777N|.	ENSP00000317802:D777N|.	D|G	+|+	1|2	0|0	LMO7|LMO7	75305266|75305266	1.000000|1.000000	0.71417|0.71417	0.681000|0.681000	0.30009|0.30009	0.953000|0.953000	0.61014|0.61014	3.897000|3.897000	0.56273|0.56273	0.749000|0.749000	0.32854|0.32854	0.650000|0.650000	0.86243|0.86243	GAT|GGA	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	G	NM_005358	-		76407265	1	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	SNP	0.898	A	A	76407265	G	A	76407265	3	1	196	1	0	0	0	0	1	0	0	0	8857	1174	41	2	3250	2	LMO7	13	76407265	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8604893	76407265	38762613	1602	14874											
SCEL	8796	genome.wustl.edu	37	chr13	78171701	78171701	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagaattggataatctcatCaaaatgaacaaaagcttgaa	7	5	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:78171701C>T	ENST00000349847.3	+	13	858	c.774C>T	c.(772-774)atC>atT	p.I258I	SCEL_ENST00000377246.3_Silent_p.I238I|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000535157.1_Silent_p.I236I|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	258	16 X approximate tandem repeats.				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)			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)		ATAATCTCATCAAAATGAACA	0.313																																																	0								ENSG00000136155						96	93	94					13																	78171701		2189	4294	6483	SCEL	SO:0001819	synonymous_variant	0			-	HGNC	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.774C>T	13.37:g.78171701C>T		Somatic	0	91	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	51	26.09	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP							smart_Znf_LIM,pfscan_Znf_LIM	p.I258	ENST00000349847.3	37	c.774	CCDS9459.1	13																																																																																			-	NULL		0.313	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	protein_coding	OTTHUMT00000045339.2	C	NM_144777	-		78171701	1	no_errors	ENST00000349847	ensembl	human	known	74_37	silent	SNP	0.999	T	T	78171701	C	T	78171701	2	4	196	1	0	0	0	0	0	0	0	1	13896	816	29	2		2	SCEL	13	78171701	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1764436	78171701	36998177	1603	14875											
SLITRK6	84189	genome.wustl.edu	37	chr13	86368336	86368336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaggtattctgtgattcCcagttgctgaagttcccttt	8	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:86368336C>T	ENST00000400286.2	-	2	2906	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	770					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTGTGATTCCCAGTTGCTGA	0.403																																																	0								ENSG00000184564						197	183	187					13																	86368336		1843	4095	5938	SLITRK6	SO:0001583	missense	0			-	HGNC	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2308G>A	13.37:g.86368336C>T	ENSP00000383143:p.Gly770Arg	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G770R	ENST00000400286.2	37	c.2308	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776773	0.70107	.	.	ENSG00000184564	ENST00000400286	T	0.68479	-0.33	5.84	5.84	0.93424	.	0.084019	0.48767	U	0.000177	T	0.72692	0.3492	N	0.19112	0.55	0.53688	D	0.999977	D	0.89917	1.0	D	0.76575	0.988	T	0.76228	-0.3036	10	0.87932	D	0	-11.6923	18.719	0.91686	0.0:1.0:0.0:0.0	.	770	Q9H5Y7	SLIK6_HUMAN	R	770	ENSP00000383143:G770R	ENSP00000383143:G770R	G	-	1	0	SLITRK6	85266337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.491000	0.60326	2.760000	0.94817	0.655000	0.94253	GGA	-	NULL		0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	protein_coding	OTTHUMT00000045404.2	C	NM_032229	-		86368336	-1	no_errors	ENST00000400286	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86368336	C	T	86368336	3	4	196	1	0	0	0	0	1	0	0	0	14755	632	22	2	221	2	SLITRK6	13	86368336	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8196635	86368336	28801542	1604	14876											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328767	88328767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtgcctttggagtgtcCcaccgcgtgctcttgcaacc	11	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:88328767C>T	ENST00000325089.6	+	2	1343	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P134L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	375	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGGAGTGTCCCACCGCGTGC	0.597																																																	0								ENSG00000165300						69	62	64					13																	88328767		2203	4300	6503	SLITRK5	SO:0001583	missense	0			-	HGNC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1124C>T	13.37:g.88328767C>T	ENSP00000366283:p.Pro375Leu	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P375L	ENST00000325089.6	37	c.1124	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973465	0.74246	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57752	0.38;0.38	5.85	5.85	0.93711	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.989;1.0	T	0.76427	-0.2963	9	.	.	.	-14.9223	17.6714	0.88218	0.0:1.0:0.0:0.0	.	134;375	B4DSH5;O94991	.;SLIK5_HUMAN	L	375;134	ENSP00000366283:P375L;ENSP00000442244:P134L	.	P	+	2	0	SLITRK5	87126768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	2.771000	0.95319	0.561000	0.74099	CCC	-	NULL		0.597	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	protein_coding	OTTHUMT00000045416.3	C		-		88328767	1	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88328767	C	T	88328767	3	4	196	1	0	0	0	0	1	0	0	0	14754	623	22	2	1126	2	SLITRK5	13	88328767	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1960431	88328767	26841111	1605	14877											
GPC5	2262	genome.wustl.edu	37	chr13	92797165	92797165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggttgaacaagtcaGtggggactgtgatgatgaag	16	4	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:92797165G>A	ENST00000377067.3	+	7	1856	c.1484G>A	c.(1483-1485)aGt>aAt	p.S495N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	495					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAACAAGTCAGTGGGGACTGT	0.463																																																	0								ENSG00000179399						185	158	167					13																	92797165		2203	4300	6503	GPC5	SO:0001583	missense	0			-	HGNC	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1484G>A	13.37:g.92797165G>A	ENSP00000366267:p.Ser495Asn	Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	65	19.75	B2R726|O60436|Q9BX27	Missense_Mutation	SNP							pfam_Glypican	p.S495N	ENST00000377067.3	37	c.1484	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532432	0.85812	.	.	ENSG00000179399	ENST00000377067	T	0.50277	0.75	5.83	5.83	0.93111	.	0.109437	0.64402	D	0.000002	T	0.67411	0.2890	M	0.62016	1.91	0.43559	D	0.995874	D	0.76494	0.999	D	0.83275	0.996	T	0.67841	-0.5566	10	0.66056	D	0.02	0.1643	17.2722	0.87105	0.0:0.0:1.0:0.0	.	495	P78333	GPC5_HUMAN	N	495	ENSP00000366267:S495N	ENSP00000366267:S495N	S	+	2	0	GPC5	91595166	1.000000	0.71417	0.995000	0.50966	0.831000	0.47069	6.945000	0.75947	2.757000	0.94681	0.563000	0.77884	AGT	-	pfam_Glypican		0.463	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	protein_coding	OTTHUMT00000045454.1	G	NM_004466	-		92797165	1	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92797165	G	A	92797165	3	1	196	1	0	0	0	0	1	0	0	0	6603	1029	36	2	1510	2	GPC5	13	92797165	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4468398	92797165	22372713	1606	14878											
DCT	1638	genome.wustl.edu	37	chr13	95114318	95114318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattgtcaaacttctggagaGacaggcaatctcgtatgtct	10	8	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:95114318G>A	ENST00000377028.5	-	5	1402	c.989C>T	c.(988-990)tCt>tTt	p.S330F	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.S330F	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	330					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)			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)		CTTCTGGAGAGACAGGCAATC	0.453																																																	0								ENSG00000080166						144	126	133					13																	95114318		2203	4300	6503	DCT	SO:0001583	missense	0			-	HGNC	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.989C>T	13.37:g.95114318G>A	ENSP00000366227:p.Ser330Phe	Somatic	0	95	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	55	21.43	Q09GT4	Missense_Mutation	SNP							pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.S330F	ENST00000377028.5	37	c.989	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	g	19.91	3.914646	0.72983	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98419	-4.92;-4.92	5.52	5.52	0.82312	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.168176	0.56097	D	0.000040	D	0.98865	0.9616	M	0.84082	2.675	0.41071	D	0.98545	P;D	0.54397	0.568;0.966	P;P	0.61003	0.629;0.882	D	0.99888	1.1128	10	0.87932	D	0	-19.374	19.4555	0.94886	0.0:0.0:1.0:0.0	.	330;330	Q09GT4;P40126	.;TYRP2_HUMAN	F	330	ENSP00000366227:S330F;ENSP00000392762:S330F	ENSP00000366227:S330F	S	-	2	0	DCT	93912319	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.602000	0.61098	2.625000	0.88918	0.556000	0.70494	TCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre		0.453	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	protein_coding	OTTHUMT00000045461.3	G		-		95114318	-1	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95114318	G	A	95114318	3	1	196	1	0	0	0	0	1	0	0	0	4306	942	33	2	693	2	DCT	13	95114318	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2317153	95114318	20055560	1607	14879											
TGDS	23483	genome.wustl.edu	37	chr13	95230402	95230402	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataaaggaagtttcttgtttGaagccctgacccatgaatgc	9	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:95230402G>A	ENST00000261296.5	-	9	802	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	228					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTTCTTGTTTGAAGCCCTGAC	0.363																																																	0								ENSG00000088451						80	78	78					13																	95230402		2203	4300	6503	TGDS	SO:0001587	stop_gained	0			-	HGNC	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.682C>T	13.37:g.95230402G>A	ENSP00000261296:p.Gln228*	Somatic	0	71	0		0.52429534266604	13	12.5	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	63	20.25	Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Nonsense_Mutation	SNP							pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd	p.Q228*	ENST00000261296.5	37	c.682	CCDS9471.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.731049	0.96856	.	.	ENSG00000088451	ENST00000261296	.	.	.	5.77	5.77	0.91146	.	0.151466	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9835	0.97338	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000261296:Q228X	Q	-	1	0	TGDS	94028403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.539000	0.82063	2.726000	0.93360	0.655000	0.94253	CAA	-	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like		0.363	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	protein_coding	OTTHUMT00000106904.2	G	NM_014305	-		95230402	-1	no_errors	ENST00000261296	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	95230402	G	A	95230402	4	1	196	1	0	0	0	0	0	1	0	0	15821	1299	45	2	386	2	TGDS	13	95230402	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	116084	95230402	19939476	1608	14880											
ZIC2	7546	genome.wustl.edu	37	chr13	100635185	100635185	+	Silent	SNP	G	G	A													ctggtgacacacgtctcggtGgagcacgtcggcggcccgga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:100635185G>A	ENST00000376335.3	+	1	1160	c.867G>A	c.(865-867)gtG>gtA	p.V289V		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	289					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGTCTCGGTGGAGCACGTCG	0.577																																					Pancreas(97;119 1522 31925 44771 48764)												0								ENSG00000043355						120	119	119					13																	100635185		2203	4300	6503	ZIC2	SO:0001819	synonymous_variant	0			-	HGNC	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.867G>A	13.37:g.100635185G>A		Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	36.67	Q5VYA9|Q9H309	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V289	ENST00000376335.3	37	c.867	CCDS9495.1	13																																																																																			-	smart_Znf_C2H2-like		0.577	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	protein_coding	OTTHUMT00000045618.2	G	NM_007129	-		100635185	1	no_errors	ENST00000376335	ensembl	human	known	74_37	silent	SNP	1.000	A	A	100635185	G	A	100635185	2	1	196	1	0	0	0	0	0	0	0	1	17686	1335	47	2		2	ZIC2	13	100635185	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5404783	100635185	14534693	1609	14881	323	2									
ZIC2	7546	genome.wustl.edu	37	chr13	100635186	100635186	+	Missense_Mutation	SNP	G	G	A													tggtgacacacgtctcggtgGagcacgtcggcggcccggag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:100635186G>A	ENST00000376335.3	+	1	1161	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	290					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTCTCGGTGGAGCACGTCGG	0.577																																					Pancreas(97;119 1522 31925 44771 48764)												0								ENSG00000043355						119	119	119					13																	100635186		2203	4300	6503	ZIC2	SO:0001583	missense	0			-	HGNC	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.868G>A	13.37:g.100635186G>A	ENSP00000365514:p.Glu290Lys	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	36.67	Q5VYA9|Q9H309	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E290K	ENST00000376335.3	37	c.868	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.147723	0.94603	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.91237	-2.81	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.96227	0.9165	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	290	O95409	ZIC2_HUMAN	K	290;39	ENSP00000365514:E290K	ENSP00000365514:E290K	E	+	1	0	ZIC2	99433187	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	GAG	-	smart_Znf_C2H2-like		0.577	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	protein_coding	OTTHUMT00000045618.2	G	NM_007129	-		100635186	1	no_errors	ENST00000376335	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100635186	G	A	100635186	3	1	196	1	0	0	0	0	1	0	0	0	17686	1175	41	2	870	2	ZIC2	13	100635186	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	100635186	14534692	1610	14882	323	2									
ITGBL1	9358	genome.wustl.edu	37	chr13	102227890	102227890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgaaacagaagaaatAtgtggaggtatgtatattgg	13	2	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:102227890A>G	ENST00000376180.3	+	4	798	c.579A>G	c.(577-579)atA>atG	p.I193M	ITGBL1_ENST00000376162.3_Missense_Mutation_p.I100M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.I52M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	193	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAAGAAATATGTGGAGGTA	0.343																																																	0								ENSG00000198542						186	178	181					13																	102227890		2203	4300	6503	ITGBL1	SO:0001583	missense	0			-	HGNC	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.579A>G	13.37:g.102227890A>G	ENSP00000365351:p.Ile193Met	Somatic	0	100	0		0.52429534266604	2	85.71	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	68	29.90	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP							pfam_EGF_extracell,smart_EG-like_dom	p.I193M	ENST00000376180.3	37	c.579	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300716	0.40694	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92911	-3.13;-3.13;-3.13	6.17	2.35	0.29111	EGF, extracellular (1);	0.219650	0.51477	D	0.000094	D	0.90448	0.7009	L	0.35414	1.06	0.39670	D	0.970745	D;B	0.56746	0.977;0.013	D;B	0.70227	0.968;0.091	D	0.86749	0.1959	10	0.52906	T	0.07	.	0.9814	0.01437	0.4278:0.144:0.1116:0.3167	.	52;193	B3KTP1;O95965	.;ITGBL_HUMAN	M	193;101;52;52;100	ENSP00000365351:I193M;ENSP00000439903:I52M;ENSP00000365332:I100M	ENSP00000365332:I100M	I	+	3	3	ITGBL1	101025891	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.332000	0.19751	0.500000	0.27991	0.533000	0.62120	ATA	-	pfam_EGF_extracell,smart_EG-like_dom		0.343	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	protein_coding	OTTHUMT00000045669.2	A	NM_004791	-		102227890	1	no_errors	ENST00000376180	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102227890	A	G	102227890	3	3	196	1	0	0	0	0	1	0	0	0	7904	439	16	5	593	5	ITGBL1	13	102227890	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1592704	102227890	12941988	1611	14883											
FGF14	2259	genome.wustl.edu	37	chr13	102375268	102375268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggcgtcaccccaggcttCgggaccgtttccccaacatc	9	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:102375268C>T	ENST00000376143.4	-	5	656	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Silent_p.P224P	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	219					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCAGGCTTCGGGACCGTTT	0.478																																																	0								ENSG00000102466						233	182	199					13																	102375268		2203	4300	6503	FGF14	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.657G>A	13.37:g.102375268C>T		Somatic	0	107	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	Q86YN7|Q96QX6	Silent	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.P224	ENST00000376143.4	37	c.672	CCDS9501.1	13																																																																																			-	NULL		0.478	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	protein_coding	OTTHUMT00000045679.2	C		-		102375268	-1	no_errors	ENST00000376131	ensembl	human	known	74_37	silent	SNP	1.000	T	T	102375268	C	T	102375268	2	4	196	1	0	0	0	0	0	0	0	1	5845	871	31	1		1	FGF14	13	102375268	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	147378	102375268	12794610	1612	14884											
KDELC1	79070	genome.wustl.edu	37	chr13	103441370	103441370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactaaccttacctcttcatCgtgatctttcgcccatttaa	4	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103441370C>T	ENST00000376004.4	-	7	1621	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	429						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCTCTTCATCGTGATCTTTC	0.423																																																	0								ENSG00000134901						207	212	211					13																	103441370		2203	4300	6503	KDELC1	SO:0001583	missense	0			-	HGNC	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1285G>A	13.37:g.103441370C>T	ENSP00000365172:p.Asp429Asn	Somatic	0	63	0		0.52429534266604	52	41.57	37	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	Q53HL3|Q9BVD2	Missense_Mutation	SNP							pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.D429N	ENST00000376004.4	37	c.1285	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.511562	0.96402	.	.	ENSG00000134901	ENST00000376004	T	0.23950	1.88	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64659	-0.6355	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	429	Q6UW63	KDEL1_HUMAN	N	429	ENSP00000365172:D429N	ENSP00000365172:D429N	D	-	1	0	KDELC1	102239371	1.000000	0.71417	0.904000	0.35570	0.975000	0.68041	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	GAT	-	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.423	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	protein_coding	OTTHUMT00000045699.1	C		-		103441370	-1	no_errors	ENST00000376004	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103441370	C	T	103441370	3	4	196	1	0	0	0	0	1	0	0	0	8119	884	31	1	239	1	KDELC1	13	103441370	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1066102	103441370	11728508	1613	14885											
ERCC5	2073	genome.wustl.edu	37	chr13	103518130	103518130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaactggtaggaactaggGagggagaagcccctgctgag	17	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103518130G>A	ENST00000355739.4	+	9	3491	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.G1115E|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	690					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGAACTAGGGAGGGAGAAGC	0.527			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"		E	0								ENSG00000134899						53	48	50					13																	103518130		2203	4300	6503	ERCC5	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	-	HGNC	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2068G>A	13.37:g.103518130G>A	ENSP00000347978:p.Glu690Lys	Somatic	0	51	0		0.52429534266604	24	16.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP							pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes	p.E690K	ENST00000355739.4	37	c.2068	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566136	0.27915	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.04917	3.53	5.49	3.32	0.38043	.	1.321610	0.04436	N	0.370145	T	0.03434	0.0099	N	0.04043	-0.29	0.09310	N	0.999992	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.42531	-0.9446	10	0.09843	T	0.71	-0.4153	6.8657	0.24093	0.4593:0.0:0.5407:0.0	.	690;690;1115	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	K	1115;690;522	ENSP00000347978:E690K	ENSP00000347978:E690K	E	+	1	0	ERCC5	102316131	0.001000	0.12720	0.128000	0.21923	0.061000	0.15899	0.269000	0.18589	0.555000	0.29079	0.563000	0.77884	GAG	-	tigrfam_XPG/Rad2_eukaryotes		0.527	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	protein_coding	OTTHUMT00000045708.1	G		-		103518130	1	no_errors	ENST00000355739	ensembl	human	known	74_37	missense	SNP	0.031	A	A	103518130	G	A	103518130	3	1	196	1	0	0	0	0	1	0	0	0	5218	1175	41	2	2102	2	ERCC5	13	103518130	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	76760	103518130	11651748	1614	14886											
LIG4	3981	genome.wustl.edu	37	chr13	108863299	108863299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtttaaaagtttgagGgcatcttttccatctctagg	9	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:108863299G>A	ENST00000356922.4	-	2	590	c.318C>T	c.(316-318)gcC>gcT	p.A106A	LIG4_ENST00000442234.1_Silent_p.A106A|LIG4_ENST00000405925.1_Silent_p.A106A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	106					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAAGTTTGAGGGCATCTTTTC	0.378								Non-homologous end-joining																																									0								ENSG00000174405						132	140	137					13																	108863299		2203	4300	6503	LIG4	SO:0001819	synonymous_variant	0			-	HGNC	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.318C>T	13.37:g.108863299G>A		Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	Q8IY66|Q8TEU5	Silent	SNP							pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.A106	ENST00000356922.4	37	c.318	CCDS9508.1	13																																																																																			-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep		0.378	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	protein_coding	OTTHUMT00000045738.4	G	NM_002312	-		108863299	-1	no_errors	ENST00000356922	ensembl	human	known	74_37	silent	SNP	0.093	A	A	108863299	G	A	108863299	2	1	196	1	0	0	0	0	0	0	0	1	8785	1219	43	2		2	LIG4	13	108863299	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5345169	108863299	6306579	1615	14887											
MYO16	23026	genome.wustl.edu	37	chr13	109535436	109535436	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtatttcagctcctcaggGaagctgtgttcctcgctgcc	10	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:109535436G>A	ENST00000357550.2	+	12	1430	c.1389G>A	c.(1387-1389)ggG>ggA	p.G463G	MYO16_ENST00000356711.2_Silent_p.G463G|MYO16_ENST00000251041.5_Silent_p.G463G	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)			GCTCCTCAGGGAAGCTGTGTT	0.547																																																	0								ENSG00000041515						173	145	155					13																	109535436		2203	4300	6503	MYO16	SO:0001819	synonymous_variant	0			-	HGNC		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.1389G>A	13.37:g.109535436G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23		Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G463	ENST00000357550.2	37	c.1389	CCDS32008.1	13																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.547	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011	-		109535436	1	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	SNP	0.602	A	A	109535436	G	A	109535436	2	1	196	1	0	0	0	0	0	0	0	1	10066	1161	41	2		2	MYO16	13	109535436	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	672137	109535436	5634442	1616	14888											
MYO16	23026	genome.wustl.edu	37	chr13	109792910	109792910	+	Silent	SNP	G	G	A													cccgatagcccggaccccggGgagtccgtgtacgaggagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:109792910G>A	ENST00000357550.2	+	31	4325	c.4284G>A	c.(4282-4284)ggG>ggA	p.G1428G	MYO16_ENST00000356711.2_Silent_p.G1428G	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)			CGGACCCCGGGGAGTCCGTGT	0.736																																																	0								ENSG00000041515						4	4	4					13																	109792910		1876	3689	5565	MYO16	SO:0001819	synonymous_variant	0			-	HGNC		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.4284G>A	13.37:g.109792910G>A		Somatic	0	18	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78		Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1428	ENST00000357550.2	37	c.4284	CCDS32008.1	13																																																																																			-	NULL		0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011	-		109792910	1	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	SNP	0.010	A	A	109792910	G	A	109792910	2	1	196	1	0	0	0	0	0	0	0	1	10066	1219	43	2		2	MYO16	13	109792910	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	257474	109792910	5376968	1617	14889	324	2									
MYO16	23026	genome.wustl.edu	37	chr13	109792911	109792911	+	Missense_Mutation	SNP	G	G	A													ccgatagcccggaccccgggGagtccgtgtacgaggagatg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:109792911G>A	ENST00000357550.2	+	31	4326	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1429K	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)			GGACCCCGGGGAGTCCGTGTA	0.736																																																	0								ENSG00000041515						4	5	4					13																	109792911		1889	3693	5582	MYO16	SO:0001583	missense	0			-	HGNC		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.4285G>A	13.37:g.109792911G>A	ENSP00000350160:p.Glu1429Lys	Somatic	0	18	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78		Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1429K	ENST00000357550.2	37	c.4285	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531739	0.64972	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.70631	-0.5;-0.5	4.32	4.32	0.51571	.	0.381224	0.18311	U	0.145103	T	0.74129	0.3676	M	0.78637	2.42	0.80722	D	1	P	0.48694	0.914	B	0.44044	0.439	T	0.77879	-0.2423	9	.	.	.	.	15.7953	0.78404	0.0:0.0:1.0:0.0	.	1429	Q9Y6X6	MYO16_HUMAN	K	1429	ENSP00000349145:E1429K;ENSP00000350160:E1429K	.	E	+	1	0	MYO16	108590912	1.000000	0.71417	0.155000	0.22561	0.877000	0.50540	7.182000	0.77689	1.955000	0.56771	0.467000	0.42956	GAG	-	NULL		0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011	-		109792911	1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	SNP	1.000	A	A	109792911	G	A	109792911	3	1	196	1	0	0	0	0	1	0	0	0	10066	1175	41	2	4407	2	MYO16	13	109792911	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	109792911	5376967	1618	14890	324	2									
COL4A1	1282	genome.wustl.edu	37	chr13	110847415	110847415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggctgccctggaattcCaggaggaccctggtcacctg	12	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:110847415C>T	ENST00000375820.4	-	22	1457	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G446R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	446	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGAATTCCAGGAGGACCC	0.418																																																	0								ENSG00000187498						50	54	53					13																	110847415		2203	4300	6503	COL4A1	SO:0001583	missense	0			-	HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1336G>A	13.37:g.110847415C>T	ENSP00000364979:p.Gly446Arg	Somatic	0	33	0		0.52429534266604	54	10	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G446R	ENST00000375820.4	37	c.1336	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723187	0.68959	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99637	-5.77;-6.29	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96694	0.9513	10	0.87932	D	0	.	16.9032	0.86118	0.0:1.0:0.0:0.0	.	446	P02462	CO4A1_HUMAN	R	440;446;446;446	ENSP00000364979:G446R;ENSP00000443348:G446R	ENSP00000364973:G440R	G	-	1	0	COL4A1	109645416	0.992000	0.36948	0.274000	0.24659	0.974000	0.67602	5.248000	0.65421	2.583000	0.87209	0.561000	0.74099	GGA	-	pfam_Collagen		0.418	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	C		-		110847415	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	SNP	0.972	T	T	110847415	C	T	110847415	3	4	196	1	0	0	0	0	1	0	0	0	3691	603	21	2	3797	2	COL4A1	13	110847415	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1054504	110847415	4322463	1619	14891											
C13orf16	121793	genome.wustl.edu	37	chr13	111995198	111995198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttggcctcatccagcaGcaagttagggctgaagcctg	14	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:111995198G>A	ENST00000283547.1	+	5	464	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	112						integral component of membrane (GO:0016021)											TCATCCAGCAGCAAGTTAGGG	0.552																																																	0								ENSG00000153495						84	75	78					13																	111995198		2203	4300	6503	TEX29	SO:0001583	missense	0			-	HGNC	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.335G>A	13.37:g.111995198G>A	ENSP00000283547:p.Ser112Asn	Somatic	0	70	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18		Missense_Mutation	SNP							NULL	p.S112N	ENST00000283547.1	37	c.335	CCDS9522.1	13	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339654	0.24339	.	.	ENSG00000153495	ENST00000283547	.	.	.	2.07	-2.69	0.06022	.	.	.	.	.	T	0.18299	0.0439	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.19224	-1.0312	8	0.36615	T	0.2	0.957	3.2505	0.06812	0.3746:0.2261:0.3993:0.0	.	112	Q8N6K0	CM016_HUMAN	N	112	.	ENSP00000283547:S112N	S	+	2	0	C13orf16	110793199	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.498000	0.02287	-0.682000	0.05197	-0.379000	0.06801	AGC	-	NULL		0.552	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX29	protein_coding	OTTHUMT00000045812.2	G	NM_152324	-		111995198	1	no_errors	ENST00000283547	ensembl	human	known	74_37	missense	SNP	0.000	A	A	111995198	G	A	111995198	3	1	196	1	0	0	0	0	1	0	0	0	1721	971	34	2	349	2	C13orf16	13	111995198	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1147783	111995198	3174680	1620	14892											
ATP11A	23250	genome.wustl.edu	37	chr13	113488923	113488923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggctttacctacctaaGgctgaaggacaattacatgg	9	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:113488923G>A	ENST00000487903.1	+	15	1668	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	ATP11A_ENST00000375630.2_Missense_Mutation_p.R527K|ATP11A_ENST00000375645.3_Missense_Mutation_p.R527K|ATP11A_ENST00000283558.8_Missense_Mutation_p.R527K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	527					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACCTACCTAAGGCTGAAGGAC	0.418																																																	0								ENSG00000068650						202	198	200					13																	113488923		2203	4300	6503	ATP11A	SO:0001583	missense	0			-	HGNC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1580G>A	13.37:g.113488923G>A	ENSP00000420387:p.Arg527Lys	Somatic	0	115	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	69	27.37	Q5VXT2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R527K	ENST00000487903.1	37	c.1580	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.423197|2.423197	0.43020|0.43020	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02	4.84|4.84	4.84|4.84	0.62591|0.62591	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.133790	.|0.56097	.|D	.|0.000033	T|T	0.53126|0.53126	0.1777|0.1777	N|N	0.11698|0.11698	0.16|0.16	0.53688|0.53688	D|D	0.999973|0.999973	.|B;B;B	.|0.28783	.|0.222;0.001;0.0	.|B;B;B	.|0.43658	.|0.426;0.006;0.004	T|T	0.44802|0.44802	-0.9304|-0.9304	5|10	.|0.06757	.|T	.|0.87	.|.	18.3346|18.3346	0.90283|0.90283	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|527;527;527	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	S|K	502|527	.|ENSP00000420387:R527K;ENSP00000364781:R527K;ENSP00000364796:R527K;ENSP00000283558:R527K	.|ENSP00000283558:R527K	G|R	+|+	1|2	0|0	ATP11A|ATP11A	112536924|112536924	1.000000|1.000000	0.71417|0.71417	0.704000|0.704000	0.30370|0.30370	0.054000|0.054000	0.15201|0.15201	9.002000|9.002000	0.93572|0.93572	2.388000|2.388000	0.81334|0.81334	0.561000|0.561000	0.74099|0.74099	GGC|AGG	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.418	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	protein_coding	OTTHUMT00000045834.3	G	NM_015205	-		113488923	1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	SNP	0.998	A	A	113488923	G	A	113488923	3	1	196	1	0	0	0	0	1	0	0	0	1119	1000	35	2	1638	2	ATP11A	13	113488923	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1493725	113488923	1680955	1621	14893											
PCID2	55795	genome.wustl.edu	37	chr13	113845241	113845241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactctgctgctttttccaAcatgtccccaactttgcttt	4	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:113845241A>G	ENST00000337344.4	-	7	488	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L	PCID2_ENST00000375457.2_Silent_p.L136L|PCID2_ENST00000375479.2_Silent_p.L138L|PCID2_ENST00000375477.1_Silent_p.L138L|PCID2_ENST00000493650.1_5'Flank|PCID2_ENST00000246505.5_Silent_p.L192L|PCID2_ENST00000375459.1_Silent_p.L136L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	138					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTTTTTCCAACATGTCCCCA	0.443																																																	0								ENSG00000126226						174	138	150					13																	113845241		2203	4300	6503	PCID2	SO:0001819	synonymous_variant	0			-	HGNC	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.412T>C	13.37:g.113845241A>G		Somatic	0	53	0		0.52429534266604	21	19.23	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	50	25.37	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP							pfam_PCI_dom,smart_PAM	p.L192	ENST00000337344.4	37	c.574	CCDS9532.2	13																																																																																			-	NULL		0.443	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	protein_coding	OTTHUMT00000045897.1	A	NM_018386	-		113845241	-1	no_errors	ENST00000246505	ensembl	human	known	74_37	silent	SNP	0.988	G	G	113845241	A	G	113845241	2	3	196	1	0	0	0	0	0	0	0	1	11581	40	2	5		5	PCID2	13	113845241	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	356318	113845241	1324637	1622	14894											
TTC5	91875	genome.wustl.edu	37	chr14	20768978	20768978	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgccctggacagaacCtaagaggaagaaaaaaagat	10	8	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:20768978C>A	ENST00000258821.3	-	3	241		c.e3-1			NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5						DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGGACAGAACCTAAGAGGAAG	0.403																																																	0								ENSG00000136319						90	91	91					14																	20768978		2203	4300	6503	TTC5	SO:0001630	splice_region_variant	0			-	HGNC	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.185-1G>T	14.37:g.20768978C>A		Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8MQ18|Q96HF9	Splice_Site	SNP							-	e3-1	ENST00000258821.3	37	c.185-1	CCDS9546.1	14	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797255	0.50208	.	.	ENSG00000136319	ENST00000258821;ENST00000423949;ENST00000553828	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5864	0.87982	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC5	19838818	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	5.852000	0.69488	2.690000	0.91761	0.655000	0.94253	.	-	-		0.403	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	protein_coding	OTTHUMT00000073529.4	C	NM_138376	-	Intron	20768978	-1	no_errors	ENST00000258821	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	20768978	C	A	20768978	5	1	196	1	0	0	0	0	0	0	1	0	16718	695	24	3	1170	3	TTC5	14	20768978	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		20768978	86580562	1623	14895											
TEP1	7011	genome.wustl.edu	37	chr14	20848597	20848597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaacactgcaacgtcagcCtcggggagcttttgttcctc	10	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:20848597C>T	ENST00000262715.5	-	34	4840	c.4800G>A	c.(4798-4800)gaG>gaA	p.E1600E	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Silent_p.E1492E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1600					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAACGTCAGCCTCGGGGAGCT	0.597																																																	0								ENSG00000129566						54	54	54					14																	20848597		2203	4300	6503	TEP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4800G>A	14.37:g.20848597C>T		Somatic	0	68	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	34	54.05	A0AUV9	Silent	SNP							pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1600	ENST00000262715.5	37	c.4800	CCDS9548.1	14																																																																																			-	NULL		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	C	NM_007110	-		20848597	-1	no_errors	ENST00000262715	ensembl	human	known	74_37	silent	SNP	0.816	T	T	20848597	C	T	20848597	2	4	196	1	0	0	0	0	0	0	0	1	15766	680	24	2		2	TEP1	14	20848597	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	79619	20848597	86500943	1624	14896											
RNASE10	338879	genome.wustl.edu	37	chr14	20978976	20978976	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcttaggcttgaccagacaGatagagaatgcaatgatatg	10	6	1	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:20978976G>A	ENST00000328444.5	+	1	365	c.346G>A	c.(346-348)Gat>Aat	p.D116N	RNASE10_ENST00000430083.1_Missense_Mutation_p.D144N	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	116					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TGACCAGACAGATAGAGAATG	0.463																																																	0								ENSG00000182545						103	84	90					14																	20978976		2203	4300	6503	RNASE10	SO:0001583	missense	0			-	HGNC		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"Ribonucleases, RNase A"	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.346G>A	14.37:g.20978976G>A	ENSP00000333358:p.Asp116Asn	Somatic	0	18	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	A2RUQ3|B4DKY4	Missense_Mutation	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.D116N	ENST00000328444.5	37	c.346	CCDS32035.1	14	.	.	.	.	.	.	.	.	.	.	G	1.136	-0.651063	0.03506	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.72394	-0.65;-0.65	4.82	-2.39	0.06602	Ribonuclease A, domain (3);	1.892680	0.02295	N	0.070624	T	0.52354	0.1729	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21449	-1.0245	10	0.21540	T	0.41	-1.1419	4.2778	0.10818	0.2644:0.0:0.3886:0.347	.	116;144	Q5GAN6;B4DKY4	RNS10_HUMAN;.	N	144;116	ENSP00000392996:D144N;ENSP00000333358:D116N	ENSP00000333358:D116N	D	+	1	0	RNASE10	20048816	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-1.076000	0.03420	-0.250000	0.09555	0.655000	0.94253	GAT	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.463	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE10	protein_coding	OTTHUMT00000411088.1	G	XM_292225	-		20978976	1	no_errors	ENST00000328444	ensembl	human	known	74_37	missense	SNP	0.000	A	A	20978976	G	A	20978976	3	1	196	1	0	0	0	0	1	0	0	0	13408	942	33	2	348	2	RNASE10	14	20978976	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	130379	20978976	86370564	1625	14897											
SLC39A2	29986	genome.wustl.edu	37	chr14	21469209	21469209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctggggctgctggaggatCgacagtgcaggacgaagaat	16	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:21469209C>T	ENST00000298681.4	+	4	558	c.401C>T	c.(400-402)tCg>tTg	p.S134L	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	134					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GCTGGAGGATCGACAGTGCAG	0.547																																																	0								ENSG00000165794						161	156	157					14																	21469209		2203	4300	6503	SLC39A2	SO:0001583	missense	0			-	HGNC	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.401C>T	14.37:g.21469209C>T	ENSP00000298681:p.Ser134Leu	Somatic	0	90	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	89	23.93	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP							pfam_ZIP	p.S134L	ENST00000298681.4	37	c.401	CCDS9563.1	14	.	.	.	.	.	.	.	.	.	.	C	8.863	0.947440	0.18356	.	.	ENSG00000165794	ENST00000298681	T	0.51071	0.72	5.17	4.29	0.51040	.	1.001530	0.08049	N	0.996430	T	0.41282	0.1152	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.32465	0.146	T	0.23762	-1.0179	10	0.38643	T	0.18	0.0146	11.6579	0.51328	0.0:0.9142:0.0:0.0858	.	134	Q9NP94	S39A2_HUMAN	L	134	ENSP00000298681:S134L	ENSP00000298681:S134L	S	+	2	0	SLC39A2	20539049	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	1.713000	0.37951	1.408000	0.46895	0.655000	0.94253	TCG	-	pfam_ZIP		0.547	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A2	protein_coding	OTTHUMT00000073829.2	C	NM_014579	-		21469209	1	no_errors	ENST00000298681	ensembl	human	known	74_37	missense	SNP	0.016	T	T	21469209	C	T	21469209	3	4	196	1	0	0	0	0	1	0	0	0	14626	893	31	1	415	1	SLC39A2	14	21469209	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	490233	21469209	85880331	1626	14898											
SALL2	6297	genome.wustl.edu	37	chr14	21993213	21993213	+	Missense_Mutation	SNP	C	C	T													gggactggcaggggcacccaCcgtctggcctaaggagccaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:21993213C>T	ENST00000327430.3	-	2	943	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	217					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(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGGCACCCACCGTCTGGCCT	0.602																																																	0								ENSG00000165821						40	40	40					14																	21993213		2203	4300	6503	SALL2	SO:0001583	missense	0			-	HGNC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.649G>A	14.37:g.21993213C>T	ENSP00000333537:p.Val217Met	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	40	45.21	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V217M	ENST00000327430.3	37	c.649	CCDS32045.1	14	.	.	.	.	.	.	.	.	.	.	C	8.528	0.870408	0.17322	.	.	ENSG00000165821	ENST00000327430;ENST00000541876	T	0.04603	3.59	4.46	4.46	0.54185	.	0.466069	0.15749	N	0.246516	T	0.05502	0.0145	L	0.29908	0.895	0.80722	D	1	B;B	0.32693	0.38;0.38	B;B	0.34873	0.191;0.191	T	0.43621	-0.9380	10	0.56958	D	0.05	-41.1915	12.4822	0.55850	0.0:1.0:0.0:0.0	.	215;217	B4DFD9;Q9Y467	.;SALL2_HUMAN	M	217	ENSP00000333537:V217M	ENSP00000333537:V217M	V	-	1	0	SALL2	21063053	0.254000	0.23992	0.774000	0.31636	0.451000	0.32288	4.507000	0.60434	2.330000	0.79161	0.655000	0.94253	GTG	-	NULL		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	protein_coding	OTTHUMT00000401242.1	C	NM_005407	-		21993213	-1	no_errors	ENST00000327430	ensembl	human	known	74_37	missense	SNP	0.949	T	T	21993213	C	T	21993213	3	4	196	1	0	0	0	0	1	0	0	0	13819	507	18	2	2378	2	SALL2	14	21993213	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	524004	21993213	85356327	1627	14899	325	2									
SALL2	6297	genome.wustl.edu	37	chr14	21993214	21993214	+	Silent	SNP	C	C	T													ggactggcaggggcacccacCgtctggcctaaggagccaag					rs558593053		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:21993214C>T	ENST00000327430.3	-	2	942	c.648G>A	c.(646-648)acG>acA	p.T216T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	216					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(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGCACCCACCGTCTGGCCTA	0.597																																																	0								ENSG00000165821						39	40	39					14																	21993214		2203	4300	6503	SALL2	SO:0001819	synonymous_variant	0			-	HGNC	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.648G>A	14.37:g.21993214C>T		Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	39	46.58	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T216	ENST00000327430.3	37	c.648	CCDS32045.1	14																																																																																			-	NULL		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	protein_coding	OTTHUMT00000401242.1	C	NM_005407	-		21993214	-1	no_errors	ENST00000327430	ensembl	human	known	74_37	silent	SNP	0.004	T	T	21993214	C	T	21993214	2	4	196	1	0	0	0	0	0	0	0	1	13819	639	23	1		1	SALL2	14	21993214	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	21993214	85356326	1628	14900	325	2									
OR4E2	26686	genome.wustl.edu	37	chr14	22133537	22133537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcactgtgcctaagAtgttggagggtttgctttta	11	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:22133537A>G	ENST00000408935.1	+	1	241	c.241A>G	c.(241-243)Atg>Gtg	p.M81V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	81						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)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGTGCCTAAGATGTTGGAGGG	0.443																																																	0								ENSG00000221977						268	253	258					14																	22133537		1991	4188	6179	OR4E2	SO:0001583	missense	0			-	HGNC		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.241A>G	14.37:g.22133537A>G	ENSP00000386195:p.Met81Val	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	Q6IET6|Q96R62	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M81V	ENST00000408935.1	37	c.241	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956882	0.34565	.	.	ENSG00000221977	ENST00000408935	T	0.01933	4.55	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	U	0.000306	T	0.04137	0.0115	L	0.53249	1.67	0.39087	D	0.96102	B	0.31879	0.344	B	0.36335	0.222	T	0.49399	-0.8944	10	0.36615	T	0.2	.	13.197	0.59745	1.0:0.0:0.0:0.0	.	81	Q8NGC2	OR4E2_HUMAN	V	81	ENSP00000386195:M81V	ENSP00000386195:M81V	M	+	1	0	OR4E2	21203377	0.963000	0.33076	1.000000	0.80357	0.903000	0.53119	0.683000	0.25349	2.004000	0.58718	0.477000	0.44152	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	protein_coding	OTTHUMT00000401874.1	A		-		22133537	1	no_errors	ENST00000408935	ensembl	human	known	74_37	missense	SNP	1.000	G	G	22133537	A	G	22133537	3	3	196	1	0	0	0	0	1	0	0	0	11062	333	12	5	243	5	OR4E2	14	22133537	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	140323	22133537	85216003	1629	14901											
C14orf93	60686	genome.wustl.edu	37	chr14	23467848	23467848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggcttccccgggactttCcttgagaggcccaggctcct	11	14	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23467848C>T	ENST00000299088.6	-	2	814	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000397382.4_Missense_Mutation_p.E129K|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.E129K|C14orf93_ENST00000406429.2_Missense_Mutation_p.E129K|C14orf93_ENST00000397379.3_Missense_Mutation_p.E129K|C14orf93_ENST00000557513.1_5'Flank	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	129						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCGGGACTTTCCTTGAGAGGC	0.607																																																	0								ENSG00000100802						53	55	54					14																	23467848		2203	4300	6503	C14orf93	SO:0001583	missense	0			-	HGNC	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.385G>A	14.37:g.23467848C>T	ENSP00000299088:p.Glu129Lys	Somatic	0	47	0		0.52429534266604	11	21.43	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP							NULL	p.E129K	ENST00000299088.6	37	c.385	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880475	0.51801	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.59	5.59	0.84812	.	0.211226	0.33364	N	0.004999	T	0.24928	0.0605	N	0.14661	0.345	0.25804	N	0.984473	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.07908	-1.0748	10	0.46703	T	0.11	-10.352	8.1886	0.31354	0.0:0.7573:0.16:0.0827	.	129;129	Q9H972;Q9H972-2	CN093_HUMAN;.	K	129	ENSP00000299088:E129K;ENSP00000341353:E129K;ENSP00000380535:E129K;ENSP00000380538:E129K;ENSP00000384768:E129K;ENSP00000380536:E129K;ENSP00000450771:E129K;ENSP00000452036:E129K	ENSP00000299088:E129K	E	-	1	0	C14orf93	22537688	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.005000	0.40864	2.644000	0.89710	0.561000	0.74099	GAA	-	NULL		0.607	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	protein_coding	OTTHUMT00000071688.5	C	NM_021944	-		23467848	-1	no_errors	ENST00000299088	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23467848	C	T	23467848	3	4	196	1	0	0	0	0	1	0	0	0	1784	864	30	2	1255	2	C14orf93	14	23467848	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1334311	23467848	83881692	1630	14902											
PSMB5	5693	genome.wustl.edu	37	chr14	23496971	23496971	+	Intron	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taccttgccatgttgccgatCctctcagcacacccacaaaa	5	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23496971C>A	ENST00000361611.6	-	3	769				PSMB5_ENST00000493471.2_Missense_Mutation_p.R191S|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5						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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TGTTGCCGATCCTCTCAGCAC	0.373																																																	0								ENSG00000100804						148	119	128					14																	23496971		692	1591	2283	PSMB5	SO:0001627	intron_variant	0			-	HGNC	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.506-1387G>T	14.37:g.23496971C>A		Somatic	0	54	0		0.52429534266604	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP							pfam_Proteasome_sua/b	p.R191S	ENST00000361611.6	37	c.573	CCDS9584.1	14	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567156	0.28003	.	.	ENSG00000100804	ENST00000493471	T	0.19105	2.17	2.58	0.688	0.18027	.	.	.	.	.	T	0.14485	0.0350	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.19391	0.025	T	0.29150	-1.0021	8	0.62326	D	0.03	.	4.3639	0.11215	0.0:0.6468:0.0:0.3532	.	191	P28074-2	.	S	191	ENSP00000452424:R191S	ENSP00000334973:R191S	R	-	3	2	PSMB5	22566811	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.442000	0.21628	0.169000	0.19679	-0.244000	0.11960	AGG	-	NULL		0.373	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB5	protein_coding	OTTHUMT00000071695.4	C	NM_002797	-		23496971	-1	no_errors	ENST00000493471	ensembl	human	known	74_37	missense	SNP	0.001	A	A	23496971	C	A	23496971	1	1	196	0	1	0	0	0	0	0	0	0	12685	854	30	3		3	PSMB5	14	23496971	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	29123	23496971	83852569	1631	14903											
ACIN1	22985	genome.wustl.edu	37	chr14	23535183	23535183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggacttacagacaacgGagatcttcctcttgaatgat	10	9	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23535183G>A	ENST00000262710.1	-	10	2801	c.2474C>T	c.(2473-2475)tCc>tTc	p.S825F	ACIN1_ENST00000397341.3_Missense_Mutation_p.S67F|ACIN1_ENST00000457657.1_Missense_Mutation_p.S785F|ACIN1_ENST00000338631.6_Missense_Mutation_p.S98F|ACIN1_ENST00000357481.2_Missense_Mutation_p.S67F|ACIN1_ENST00000557515.1_Missense_Mutation_p.S67F|ACIN1_ENST00000605057.1_Missense_Mutation_p.S767F|ACIN1_ENST00000555053.1_Missense_Mutation_p.S825F|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	825					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACAGACAACGGAGATCTTCCT	0.433																																																	0								ENSG00000100813						135	125	128					14																	23535183		2203	4300	6503	ACIN1	SO:0001583	missense	0			-	HGNC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2474C>T	14.37:g.23535183G>A	ENSP00000262710:p.Ser825Phe	Somatic	0	90	0		0.52429534266604	24	66.2	47	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	28	51.72	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP							pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.S825F	ENST00000262710.1	37	c.2474	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965613	0.74131	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.22743	3.36;3.36;3.36;1.94;1.96;3.36;3.41	5.27	5.27	0.74061	.	0.000000	0.40554	N	0.001067	T	0.41926	0.1180	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.998;0.998	T	0.15521	-1.0434	10	0.72032	D	0.01	-6.6368	17.8218	0.88652	0.0:0.0:1.0:0.0	.	825;825;785;98;67	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	F	67;98;67;825;785;67;825;67	ENSP00000451138:S67F;ENSP00000345541:S98F;ENSP00000350073:S67F;ENSP00000262710:S825F;ENSP00000405677:S785F;ENSP00000380502:S67F;ENSP00000451328:S825F	ENSP00000262710:S825F	S	-	2	0	ACIN1	22605023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.749000	0.94314	0.655000	0.94253	TCC	-	NULL		0.433	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	protein_coding	OTTHUMT00000071707.3	G	NM_014977	-		23535183	-1	no_errors	ENST00000262710	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23535183	G	A	23535183	3	1	196	1	0	0	0	0	1	0	0	0	142	1174	41	2	1591	2	ACIN1	14	23535183	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	38212	23535183	83814357	1632	14904											
SLC7A8	23428	genome.wustl.edu	37	chr14	23652009	23652009	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcactgaccaatccgatctCtttcttcagggctactccgc	8	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23652009C>T	ENST00000316902.7	-	1	840	c.115G>A	c.(115-117)Gag>Aag	p.E39K	C14orf164_ENST00000399910.1_5'Flank|SLC7A8_ENST00000469263.1_Missense_Mutation_p.E39K	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	39					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AATCCGATCTCTTTCTTCAGG	0.602																																																	0								ENSG00000092068						129	112	118					14																	23652009		2203	4300	6503	SLC7A8	SO:0001583	missense	0			-	HGNC	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.115G>A	14.37:g.23652009C>T	ENSP00000320378:p.Glu39Lys	Somatic	0	67	0		0.52429534266604	1	85.71	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	43.64	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E39K	ENST00000316902.7	37	c.115	CCDS9590.1	14	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635609	0.67130	.	.	ENSG00000092068	ENST00000316902;ENST00000469263;ENST00000524758;ENST00000525062	D;D;D;D	0.94497	-2.56;-2.84;-2.75;-3.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	N	0.19112	0.55	0.80722	D	1	P;P	0.47350	0.894;0.752	P;P	0.48770	0.507;0.589	D	0.90491	0.4467	10	0.25751	T	0.34	.	16.7715	0.85538	0.0:1.0:0.0:0.0	.	39;39	E9PLV9;Q9UHI5	.;LAT2_HUMAN	K	39	ENSP00000320378:E39K;ENSP00000435114:E39K;ENSP00000434352:E39K;ENSP00000436665:E39K	ENSP00000320378:E39K	E	-	1	0	SLC7A8	22721849	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.138000	0.50570	2.551000	0.86045	0.462000	0.41574	GAG	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.602	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A8	protein_coding	OTTHUMT00000071718.3	C		-		23652009	-1	no_errors	ENST00000316902	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23652009	C	T	23652009	3	4	196	1	0	0	0	0	1	0	0	0	14712	922	32	2	1536	2	SLC7A8	14	23652009	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	116826	23652009	83697531	1633	14905											
DHRS4L2	317749	genome.wustl.edu	37	chr14	24470241	24470241	+	Splice_Site	DEL	G	G	-													tcagctctcttctttttccaGaggcggctcagtggtgatcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24470241delG	ENST00000335125.6	+	5	605		c.e5-1		DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Splice_Site	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TCTTTTTCCAGAGGCGGCTCA	0.562																																																	0								ENSG00000187630						169	168	168					14																	24470241		2203	4300	6503	DHRS4L2	SO:0001630	splice_region_variant	0				HGNC		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.480-1G>-	14.37:g.24470241delG		Somatic	0	70	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	42	37.31	Q3YLD4	Splice_Site	DEL							-	e5-1	ENST00000335125.6	37	c.474-1	CCDS9606.2	14																																																																																			-	-		0.562	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	DHRS4L2	protein_coding	OTTHUMT00000071858.4	G			Intron	24470241	1	no_errors	ENST00000382755	ensembl	human	known	74_37	splice_site_del	DEL	0.969	-	-	24470241	G	-	24470241	8	5	196	1	0	1	0	1	0	0	1	0	4496	956	33	0	497	0	DHRS4L2	14	24470241	Splice_Site	DEL	G	TCGA-QC-A7B5-01A-11D-A33E-09	818232	24470241	82879299	1634	14906											
ADCY4	196883	genome.wustl.edu	37	chr14	24795084	24795084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttgaagtccttcgactgCttccactgtctggtgggagg	15	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24795084C>T	ENST00000310677.4	-	14	1778	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	ADCY4_ENST00000396747.3_Silent_p.K248K|ADCY4_ENST00000418030.2_Silent_p.K555K|ADCY4_ENST00000554068.2_Silent_p.K555K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	555					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTTCGACTGCTTCCACTGTC	0.572																																																	0								ENSG00000129467						79	64	69					14																	24795084		2203	4300	6503	ADCY4	SO:0001819	synonymous_variant	0			-	HGNC	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1665G>A	14.37:g.24795084C>T		Somatic	0	24	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	4	78.95	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K555	ENST00000310677.4	37	c.1665	CCDS9627.1	14																																																																																			-	pfam_Adenylate_cyclase-like		0.572	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	protein_coding	OTTHUMT00000073200.4	C		-		24795084	-1	no_errors	ENST00000310677	ensembl	human	known	74_37	silent	SNP	0.975	T	T	24795084	C	T	24795084	2	4	196	1	0	0	0	0	0	0	0	1	296	796	28	2		2	ADCY4	14	24795084	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	324843	24795084	82554456	1635	14907											
KHNYN	23351	genome.wustl.edu	37	chr14	24900847	24900847	+	Missense_Mutation	SNP	C	C	T													gatcagtggcctgactgaagCctttgtcatggctcagagcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24900847C>T	ENST00000251343.5	+	3	519	c.380C>T	c.(379-381)gCc>gTc	p.A127V	KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A127V|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.A127V			O15037	KHNYN_HUMAN	KH and NYN domain containing	127							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGACTGAAGCCTTTGTCATG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100441						45	48	47					14																	24900847		2203	4300	6503	KHNYN	SO:0001583	missense	0			-	HGNC	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.380C>T	14.37:g.24900847C>T	ENSP00000251343:p.Ala127Val	Somatic	0	22	0	774	0.52429534266604	3	72.73	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP							pfam_RNase_Zc3h12	p.A127V	ENST00000251343.5	37	c.380	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348786	0.82132	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.04	5.04	0.67666	.	0.135544	0.49305	D	0.000143	T	0.55386	0.1917	M	0.68952	2.095	0.80722	D	1	D;D	0.58620	0.983;0.965	P;P	0.51016	0.656;0.656	T	0.60525	-0.7246	10	0.72032	D	0.01	.	12.0458	0.53479	0.0:0.8257:0.1743:0.0	.	168;127	D3DS77;O15037	.;KHNYN_HUMAN	V	127	ENSP00000251343:A127V;ENSP00000451106:A127V;ENSP00000450799:A127V;ENSP00000451004:A127V	ENSP00000251343:A127V	A	+	2	0	KHNYN	23970687	1.000000	0.71417	0.988000	0.46212	0.817000	0.46193	5.260000	0.65490	2.506000	0.84524	0.563000	0.77884	GCC	-	NULL		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	protein_coding	OTTHUMT00000412928.1	C		-		24900847	1	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24900847	C	T	24900847	3	4	196	1	0	0	0	0	1	0	0	0	8152	739	26	2	386	2	KHNYN	14	24900847	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	105763	24900847	82448693	1636	14908	326	2									
KHNYN	23351	genome.wustl.edu	37	chr14	24900848	24900848	+	Silent	SNP	C	C	T													atcagtggcctgactgaagcCtttgtcatggctcagagccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24900848C>T	ENST00000251343.5	+	3	520	c.381C>T	c.(379-381)gcC>gcT	p.A127A	KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Silent_p.A127A|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Silent_p.A127A			O15037	KHNYN_HUMAN	KH and NYN domain containing	127							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGACTGAAGCCTTTGTCATGG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100441						45	49	48					14																	24900848		2203	4300	6503	KHNYN	SO:0001819	synonymous_variant	0			-	HGNC	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.381C>T	14.37:g.24900848C>T		Somatic	0	22	0	774	0.52429534266604	3	72.73	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP							pfam_RNase_Zc3h12	p.A127	ENST00000251343.5	37	c.381	CCDS32058.1	14																																																																																			-	NULL		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	protein_coding	OTTHUMT00000412928.1	C		-		24900848	1	no_errors	ENST00000251343	ensembl	human	known	74_37	silent	SNP	0.981	T	T	24900848	C	T	24900848	2	4	196	1	0	0	0	0	0	0	0	1	8152	668	24	2		2	KHNYN	14	24900848	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	24900848	82448692	1637	14909	326	2									
NPAS3	64067	genome.wustl.edu	37	chr14	33684485	33684485	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattggccaagttgttgcctCttcctgcagccattaccagc	8	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:33684485C>T	ENST00000356141.4	+	3	238	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	NPAS3_ENST00000548645.1_Missense_Mutation_p.L50F|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80F|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87F|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50F|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000346562.2_Missense_Mutation_p.L50F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	80	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			PLP -> LS (in Ref. 4; CAB45154). {ECO:0000305}.	locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTTGTTGCCTCTTCCTGCAGC	0.488																																																	0								ENSG00000151322						105	104	104					14																	33684485		2203	4300	6503	NPAS3	SO:0001583	missense	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.238C>T	14.37:g.33684485C>T	ENSP00000348460:p.Leu80Phe	Somatic	0	81	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	18	67.86	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP							pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.L80F	ENST00000356141.4	37	c.238	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852265	0.91355	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.97941	3.3;3.18;3.2;-4.62;3.21;3.18;3.05	5.83	5.83	0.93111	Helix-loop-helix DNA-binding (4);	0.000000	0.56097	D	0.000021	D	0.98169	0.9395	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.996	D	0.97059	0.9769	10	0.19147	T	0.46	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	50;80;50;50	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	F	57;87;50;80;50;80;50	ENSP00000448373:L57F;ENSP00000450392:L87F;ENSP00000319610:L50F;ENSP00000344158:L80F;ENSP00000448916:L50F;ENSP00000348460:L80F;ENSP00000350446:L50F	ENSP00000344158:L80F	L	+	1	0	NPAS3	32754236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	2.757000	0.94681	0.563000	0.77884	CTT	-	superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.488	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	C		-		33684485	1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33684485	C	T	33684485	3	4	196	1	0	0	0	0	1	0	0	0	10566	913	32	2	248	2	NPAS3	14	33684485	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8783637	33684485	73665055	1638	14910											
NPAS3	64067	genome.wustl.edu	37	chr14	34269006	34269006	+	Missense_Mutation	SNP	C	C	T													gaacagcgaagacccggagcCcgaccggaagaagtcgggca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:34269006C>T	ENST00000356141.4	+	12	1493	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	NPAS3_ENST00000548645.1_Missense_Mutation_p.P468L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P503L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P485L|NPAS3_ENST00000346562.2_Missense_Mutation_p.P466L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	498					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GACCCGGAGCCCGACCGGAAG	0.662																																																	0								ENSG00000151322						38	36	36					14																	34269006		2202	4294	6496	NPAS3	SO:0001583	missense	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1493C>T	14.37:g.34269006C>T	ENSP00000348460:p.Pro498Leu	Somatic	0	101	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	49	52.43	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP							pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.P498L	ENST00000356141.4	37	c.1493	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598935	0.66332	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.70986	-0.53;3.4;3.4;3.4;3.4;3.26	5.46	5.46	0.80206	.	0.382407	0.29246	N	0.012707	T	0.58552	0.2130	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.54159	-0.8335	10	0.52906	T	0.07	.	19.2983	0.94132	0.0:1.0:0.0:0.0	.	468;498;466;485	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	L	472;503;466;468;498;485	ENSP00000448373:P472L;ENSP00000450392:P503L;ENSP00000319610:P466L;ENSP00000448916:P468L;ENSP00000348460:P498L;ENSP00000350446:P485L	ENSP00000319610:P466L	P	+	2	0	NPAS3	33338757	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.375000	0.59549	2.560000	0.86352	0.555000	0.69702	CCC	-	NULL		0.662	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	C		-		34269006	1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34269006	C	T	34269006	3	4	196	1	0	0	0	0	1	0	0	0	10566	623	22	2	1594	2	NPAS3	14	34269006	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	584521	34269006	73080534	1639	14911	327	2									
NPAS3	64067	genome.wustl.edu	37	chr14	34269007	34269007	+	Silent	SNP	C	C	T													aacagcgaagacccggagccCgaccggaagaagtcgggcaa					rs151099881		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:34269007C>T	ENST00000356141.4	+	12	1494	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	NPAS3_ENST00000548645.1_Silent_p.P468P|NPAS3_ENST00000551492.1_Silent_p.P503P|NPAS3_ENST00000357798.5_Silent_p.P485P|NPAS3_ENST00000346562.2_Silent_p.P466P			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	498					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACCCGGAGCCCGACCGGAAGA	0.657																																																	0								ENSG00000151322	C	,,,	0,4404		0,0,2202	38	36	36		1494,1404,1398,1455	1.1	1	14	dbSNP_134	36	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,,	498/934,468/904,466/902,485/921	34269007	1,12991	2202	4294	6496	NPAS3	SO:0001819	synonymous_variant	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1494C>T	14.37:g.34269007C>T		Somatic	0	102	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	49	52.43	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP							pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.P498	ENST00000356141.4	37	c.1494	CCDS53891.1	14																																																																																			-	NULL		0.657	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	C		rs151099881		34269007	1	no_errors	ENST00000356141	ensembl	human	known	74_37	silent	SNP	0.924	T	T	34269007	C	T	34269007	2	4	196	1	0	0	0	0	0	0	0	1	10566	639	23	1		1	NPAS3	14	34269007	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	34269007	73080533	1640	14912	327	2									
MIPOL1	145282	genome.wustl.edu	37	chr14	37737910	37737910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattatgaatgtatgactcCttgtcaagttacttcagact	7	8	2	3	rs527856974		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:37737910C>T	ENST00000327441.7	+	6	765	c.299C>T	c.(298-300)cCt>cTt	p.P100L	MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000396294.2_Missense_Mutation_p.P100L|MIPOL1_ENST00000539062.2_Missense_Mutation_p.P69L|MIPOL1_ENST00000556451.1_Missense_Mutation_p.P69L|MIPOL1_ENST00000537471.1_Missense_Mutation_p.P100L|MIPOL1_ENST00000545536.1_Missense_Mutation_p.P69L|MIPOL1_ENST00000539174.2_3'UTR	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	100						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGTATGACTCCTTGTCAAGTT	0.289													C|||	1	0.000199681	8e-04	0	5008	,	,		19152	0		0	False		,,,				2504	0																0								ENSG00000151338						117	124	122					14																	37737910		2203	4291	6494	MIPOL1	SO:0001583	missense	0			-	HGNC	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.299C>T	14.37:g.37737910C>T	ENSP00000333539:p.Pro100Leu	Somatic	0	65	0		0.52429534266604	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP							NULL	p.P100L	ENST00000327441.7	37	c.299	CCDS9664.1	14	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033559	0.54896	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.47177	0.86;0.89;0.85;0.86;0.86;0.85	5.36	4.46	0.54185	.	0.442556	0.22835	N	0.055050	T	0.49287	0.1548	L	0.56769	1.78	0.80722	D	1	P;P	0.43662	0.804;0.814	B;P	0.44860	0.307;0.462	T	0.45145	-0.9281	10	0.34782	T	0.22	-0.8394	13.6048	0.62041	0.155:0.845:0.0:0.0	.	100;69	Q8TD10;Q49AL5	MIPO1_HUMAN;.	L	100;100;69;69;100;100;100;69	ENSP00000333539:P100L;ENSP00000438319:P69L;ENSP00000450479:P69L;ENSP00000379589:P100L;ENSP00000444254:P100L;ENSP00000442529:P69L	ENSP00000333539:P100L	P	+	2	0	MIPOL1	36807661	0.953000	0.32496	0.986000	0.45419	0.250000	0.25880	3.244000	0.51399	1.226000	0.43582	0.591000	0.81541	CCT	-	NULL		0.289	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPOL1	protein_coding	OTTHUMT00000276734.1	C	NM_138731	-		37737910	1	no_errors	ENST00000327441	ensembl	human	known	74_37	missense	SNP	0.992	T	T	37737910	C	T	37737910	3	4	196	1	0	0	0	0	1	0	0	0	9595	681	24	2	309	2	MIPOL1	14	37737910	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3468903	37737910	69611630	1641	14913											
MDGA2	161357	genome.wustl.edu	37	chr14	47324287	47324287	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccatctttgtcctttattCccacttgaagaccacagtgg	6	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:47324287C>T	ENST00000399232.2	-	15	2980	c.2616G>A	c.(2614-2616)ggG>ggA	p.G872G	MDGA2_ENST00000439988.3_Silent_p.G941G|MDGA2_ENST00000426342.1_Silent_p.G643G|MDGA2_ENST00000399222.3_Silent_p.G74G|MDGA2_ENST00000357362.3_Silent_p.G643G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	872	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTCCTTTATTCCCACTTGAAG	0.313																																																	0								ENSG00000272781						137	127	130					14																	47324287		1826	4075	5901	MDGA2	SO:0001819	synonymous_variant	0			-	Uniprot_gn	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2616G>A	14.37:g.47324287C>T		Somatic	0	93	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	25	55.36	F6W3S7|J3KPX6	Silent	SNP							pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.G941	ENST00000399232.2	37	c.2823		14																																																																																			-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	protein_coding	OTTHUMT00000073352.5	C	NM_182830	-		47324287	-1	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47324287	C	T	47324287	2	4	196	1	0	0	0	0	0	0	0	1	9409	842	30	2		2	MDGA2	14	47324287	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9586377	47324287	60025253	1642	14914											
CGRRF1	10668	genome.wustl.edu	37	chr14	55004467	55004467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtgtcagtgattcatattCctgataggacttataaacta	8	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:55004467C>T	ENST00000216420.7	+	5	730	c.598C>T	c.(598-600)Cct>Tct	p.P200S	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	200					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GATTCATATTCCTGATAGGAC	0.303																																																	0								ENSG00000100532						77	75	76					14																	55004467		2202	4297	6499	CGRRF1	SO:0001583	missense	0			-	HGNC	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.598C>T	14.37:g.55004467C>T	ENSP00000216420:p.Pro200Ser	Somatic	0	59	0		0.52429534266604	5	64.29	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q96BX2	Missense_Mutation	SNP							smart_Znf_RING,pfscan_Znf_RING	p.P200S	ENST00000216420.7	37	c.598	CCDS9719.1	14	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638361	0.67130	.	.	ENSG00000100532	ENST00000216420	T	0.27402	1.67	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.47315	-0.9127	10	0.44086	T	0.13	-14.6941	20.4324	0.99085	0.0:1.0:0.0:0.0	.	200;200	B2RCX4;Q99675	.;CGRF1_HUMAN	S	200	ENSP00000216420:P200S	ENSP00000216420:P200S	P	+	1	0	CGRRF1	54074217	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.253000	0.78320	2.833000	0.97629	0.585000	0.79938	CCT	-	NULL		0.303	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	protein_coding	OTTHUMT00000276905.2	C	NM_006568	-		55004467	1	no_errors	ENST00000216420	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55004467	C	T	55004467	3	4	196	1	0	0	0	0	1	0	0	0	3308	855	30	2	616	2	CGRRF1	14	55004467	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	7680180	55004467	52345073	1643	14915											
WDHD1	11169	genome.wustl.edu	37	chr14	55480289	55480289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaaatcctcacatcacCatcacttccacaagtcacaa	1	17	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:55480289C>A	ENST00000360586.3	-	3	168	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	WDHD1_ENST00000420358.2_5'UTR|WDHD1_ENST00000421192.1_5'UTR	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	35					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCACATCACCATCACTTCCA	0.388																																																	0								ENSG00000198554						160	136	144					14																	55480289		2203	4300	6503	WDHD1	SO:0001583	missense	0			-	HGNC	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.103G>T	14.37:g.55480289C>A	ENSP00000353793:p.Gly35Cys	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	C9JW18|F6W0U7	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G35C	ENST00000360586.3	37	c.103	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814456	0.90790	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;T	0.64991	-0.13;-0.13	5.71	5.71	0.89125	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	0.81978	0.4937	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82900	-0.0228	10	0.56958	D	0.05	-25.5596	19.839	0.96675	0.0:1.0:0.0:0.0	.	35	O75717	WDHD1_HUMAN	C	35	ENSP00000353793:G35C;ENSP00000413435:G35C	ENSP00000353793:G35C	G	-	1	0	WDHD1	54550039	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.220000	0.78008	2.682000	0.91365	0.491000	0.48974	GGT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.388	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	protein_coding	OTTHUMT00000276897.2	C	NM_007086	-		55480289	-1	no_errors	ENST00000360586	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55480289	C	A	55480289	3	1	196	1	0	0	0	0	1	0	0	0	17278	594	21	3	3382	3	WDHD1	14	55480289	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	475822	55480289	51869251	1644	14916											
TBPL2	387332	genome.wustl.edu	37	chr14	55903529	55903529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagaattttcttcagtttCgtgtttgctaatgacaggct	8	7	3	2	rs147025657	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:55903529C>T	ENST00000247219.5	-	2	428	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCTTCAGTTTCGTGTTTGCTA	0.438																																																	0								ENSG00000182521	C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	198	166	177		358	4	0.1	14	dbSNP_134	177	0,8600		0,0,4300	no	missense	TBPL2	NM_199047.2	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	120/376	55903529	3,13003	2203	4300	6503	TBPL2	SO:0001583	missense	0			-	HGNC	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.358G>A	14.37:g.55903529C>T	ENSP00000247219:p.Glu120Lys	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21		Missense_Mutation	SNP							pfam_TBP,prints_TBP	p.E120K	ENST00000247219.5	37	c.358	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	C	7.599	0.672433	0.14776	6.81E-4	0.0	ENSG00000182521	ENST00000247219	T	0.44482	0.92	4.89	4.0	0.46444	.	1.866580	0.02113	N	0.054960	T	0.34250	0.0891	L	0.54323	1.7	0.09310	N	1	P	0.39094	0.659	B	0.27076	0.076	T	0.30060	-0.9991	10	0.14252	T	0.57	-1.9673	6.6816	0.23123	0.0:0.7865:0.0:0.2135	.	120	Q6SJ96	TBPL2_HUMAN	K	120	ENSP00000247219:E120K	ENSP00000247219:E120K	E	-	1	0	TBPL2	54973282	0.022000	0.18835	0.071000	0.20095	0.016000	0.09150	1.230000	0.32612	1.287000	0.44583	0.563000	0.77884	GAA	-	NULL		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	protein_coding	OTTHUMT00000276916.1	C	NM_199047	rs147025657		55903529	-1	no_errors	ENST00000247219	ensembl	human	known	74_37	missense	SNP	0.032	T	T	55903529	C	T	55903529	3	4	196	1	0	0	0	0	1	0	0	0	15653	893	31	1	793	1	TBPL2	14	55903529	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	423240	55903529	51446011	1645	14917											
C14orf37	145407	genome.wustl.edu	37	chr14	58605956	58605956	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggactgccctttttccgcatGaacatgtgctatctccctcc	7	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:58605956G>A	ENST00000267485.7	-	2	315	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	41						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TTTTCCGCATGAACATGTGCT	0.483																																																	0								ENSG00000139971						233	232	232					14																	58605956		2203	4300	6503	C14orf37	SO:0001583	missense	0			-	HGNC		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.121C>T	14.37:g.58605956G>A	ENSP00000267485:p.His41Tyr	Somatic	0	97	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	25	62.12	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP							NULL	p.H41Y	ENST00000267485.7	37	c.121	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342353	0.24339	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34275	1.37	4.33	1.26	0.21427	.	1.141740	0.06430	N	0.723924	T	0.24084	0.0583	L	0.35414	1.06	0.09310	N	1	B;B;B;B	0.13145	0.004;0.007;0.004;0.004	B;B;B;B	0.13407	0.003;0.009;0.003;0.003	T	0.27706	-1.0066	10	0.09843	T	0.71	1.083	5.5613	0.17146	0.0984:0.0:0.5531:0.3485	.	79;41;41;41	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	Y	41;79	ENSP00000267485:H41Y	ENSP00000267485:H41Y	H	-	1	0	C14orf37	57675709	0.000000	0.05858	0.004000	0.12327	0.500000	0.33767	0.622000	0.24433	0.126000	0.18424	0.655000	0.94253	CAT	-	NULL		0.483	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	protein_coding	OTTHUMT00000412059.1	G	NM_001001872	-		58605956	-1	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	SNP	0.009	A	A	58605956	G	A	58605956	3	1	196	1	0	0	0	0	1	0	0	0	1773	1290	45	2	2231	2	C14orf37	14	58605956	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2702427	58605956	48743584	1646	14918											
DACT1	51339	genome.wustl.edu	37	chr14	59113234	59113234	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaagcctcctccaagggGaggaagagtgggggcgggcc	18	9	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:59113234G>A	ENST00000335867.4	+	4	1917	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G	DACT1_ENST00000556859.1_Silent_p.G350G|DACT1_ENST00000541264.2_Silent_p.G350G|DACT1_ENST00000395153.3_Silent_p.G594G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	631					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTCCAAGGGGAGGAAGAGTG	0.672																																																	0								ENSG00000165617						10	12	11					14																	59113234		2163	4254	6417	DACT1	SO:0001819	synonymous_variant	0			-	HGNC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1893G>A	14.37:g.59113234G>A		Somatic	0	110	0		0.52429534266604	0	100	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	49	49.48	A8MYJ2|Q86TY0	Silent	SNP							NULL	p.G631	ENST00000335867.4	37	c.1893	CCDS9736.1	14																																																																																			-	NULL		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	G	NM_016651	-		59113234	1	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	SNP	0.002	A	A	59113234	G	A	59113234	2	1	196	1	0	0	0	0	0	0	0	1	4224	1161	41	2		2	DACT1	14	59113234	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	507278	59113234	48236306	1647	14919											
C14orf39	317761	genome.wustl.edu	37	chr14	60928072	60928072	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatataaacggcaaatacCtttatcccctttttccgacc	3	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:60928072C>T	ENST00000321731.3	-	13	1276	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	373					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CGGCAAATACCTTTATCCCCT	0.299																																																	0								ENSG00000179008						60	58	59					14																	60928072		2202	4299	6501	C14orf39	SO:0001630	splice_region_variant	0			-	HGNC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1117+1G>A	14.37:g.60928072C>T		Somatic	0	220	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	89	42.68	Q08AQ4	Missense_Mutation	SNP							NULL	p.D373N	ENST00000321731.3	37	c.1117	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330683	0.81690	.	.	ENSG00000179008	ENST00000321731	T	0.31769	1.48	5.06	5.06	0.68205	.	0.085942	0.50627	D	0.000119	T	0.52661	0.1748	M	0.67953	2.075	0.35738	D	0.818454	D	0.89917	1.0	D	0.87578	0.998	T	0.62450	-0.6852	9	.	.	.	-14.3389	13.927	0.63968	0.0:1.0:0.0:0.0	.	373	Q8N1H7	S6OS1_HUMAN	N	373	ENSP00000324920:D373N	.	D	-	1	0	C14orf39	59997825	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.669000	0.46825	2.323000	0.78572	0.650000	0.86243	GAT	-	NULL		0.299	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	protein_coding	OTTHUMT00000276948.1	C	NM_174978	-	Missense_Mutation	60928072	-1	no_errors	ENST00000321731	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60928072	C	T	60928072	5	4	196	1	0	0	0	0	0	0	1	0	1774	695	24	2	670	2	C14orf39	14	60928072	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1814838	60928072	46421468	1648	14920											
KCNH5	27133	genome.wustl.edu	37	chr14	63174717	63174717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgacattattccagtcttCctttttctcctcatgggctc	6	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:63174717C>T	ENST00000322893.7	-	11	2744	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	826					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)			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)		TTCCAGTCTTCCTTTTTCTCC	0.433																																																	0								ENSG00000140015						149	142	144					14																	63174717		2203	4300	6503	KCNH5	SO:0001583	missense	0			-	HGNC	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.2476G>A	14.37:g.63174717C>T	ENSP00000321427:p.Glu826Lys	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	C9JP98	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.E826K	ENST00000322893.7	37	c.2476	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572881	0.45798	.	.	ENSG00000140015	ENST00000322893	D	0.99186	-5.53	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	L	0.61218	1.895	0.80722	D	1	P	0.38420	0.63	B	0.32211	0.142	D	0.97739	1.0207	10	0.24483	T	0.36	.	20.4025	0.99000	0.0:1.0:0.0:0.0	.	826	Q8NCM2	KCNH5_HUMAN	K	826	ENSP00000321427:E826K	ENSP00000321427:E826K	E	-	1	0	KCNH5	62244470	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.973000	0.56845	2.828000	0.97474	0.650000	0.86243	GAA	-	NULL		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	C	NM_139318	-		63174717	-1	no_errors	ENST00000322893	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63174717	C	T	63174717	3	4	196	1	0	0	0	0	1	0	0	0	8037	864	30	2	494	2	KCNH5	14	63174717	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2246645	63174717	44174823	1649	14921											
PPP2R5E	5529	genome.wustl.edu	37	chr14	63842777	63842777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctctctttaactccagatCctccaattttttccacaatt	1	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:63842777C>T	ENST00000337537.3	-	14	1956	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.D376N|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.D447N	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	452					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AACTCCAGATCCTCCAATTTT	0.353																																																	0								ENSG00000154001						238	204	215					14																	63842777		2203	4300	6503	PPP2R5E	SO:0001583	missense	0			-	HGNC	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1354G>A	14.37:g.63842777C>T	ENSP00000337641:p.Asp452Asn	Somatic	0	76	0		0.52429534266604	6	73.91	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	23	55.77	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP							pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D452N	ENST00000337537.3	37	c.1354	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434522	0.62955	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	N	0.08118	0	0.80722	D	1	B;B	0.29835	0.258;0.258	B;B	0.28709	0.093;0.093	T	0.35101	-0.9802	9	0.42905	T	0.14	-9.8479	20.1996	0.98256	0.0:1.0:0.0:0.0	.	447;452	B7ZKK9;Q16537	.;2A5E_HUMAN	N	452;447;376	.	ENSP00000337641:D452N	D	-	1	0	PPP2R5E	62912530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.776000	0.95493	0.650000	0.86243	GAT	-	pfam_PP2A_B56,pirsf_PP2A_B56		0.353	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	protein_coding	OTTHUMT00000276973.1	C	NM_006246	-		63842777	-1	no_errors	ENST00000337537	ensembl	human	known	74_37	missense	SNP	1.000	T	T	63842777	C	T	63842777	3	4	196	1	0	0	0	0	1	0	0	0	12401	855	30	2	53	2	PPP2R5E	14	63842777	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	668060	63842777	43506763	1650	14922											
ZBTB1	22890	genome.wustl.edu	37	chr14	64989325	64989325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagatgaacctgaagagcCattttatagatactatgttg	9	5	0	6			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:64989325C>T	ENST00000554015.1	+	4	1534	c.1103C>T	c.(1102-1104)cCa>cTa	p.P368L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P368L|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P368L			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	368					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CCTGAAGAGCCATTTTATAGA	0.338																																																	0								ENSG00000126804						58	64	62					14																	64989325		2203	4300	6503	ZBTB1	SO:0001583	missense	0			-	HGNC	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1103C>T	14.37:g.64989325C>T	ENSP00000451000:p.Pro368Leu	Somatic	0	60	0		0.52429534266604	3	75	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	21	61.11	A8K6S8|Q86SW8	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P368L	ENST00000554015.1	37	c.1103	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242721	0.39598	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10668	2.85;3.4;2.85	5.95	5.95	0.96441	.	0.306481	0.28322	N	0.015778	T	0.18257	0.0438	N	0.24115	0.695	0.54753	D	0.999987	D;D	0.61697	0.99;0.965	P;B	0.56474	0.799;0.396	T	0.01218	-1.1415	10	0.34782	T	0.22	-14.6008	20.3932	0.98965	0.0:1.0:0.0:0.0	.	368;368	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	368	ENSP00000451000:P368L;ENSP00000351587:P368L;ENSP00000378201:P368L	ENSP00000351587:P368L	P	+	2	0	ZBTB1	64059078	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.136000	0.42121	2.824000	0.97209	0.655000	0.94253	CCA	-	NULL		0.338	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	protein_coding	OTTHUMT00000411912.1	C		-		64989325	1	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64989325	C	T	64989325	3	4	196	1	0	0	0	0	1	0	0	0	17529	594	21	2	1105	2	ZBTB1	14	64989325	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1146548	64989325	42360215	1651	14923											
FUT8	2530	genome.wustl.edu	37	chr14	66096251	66096251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacctcagtcagacagatgGagcaggtgattggcgggaaa	14	8	2	3	rs139587074		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:66096251G>A	ENST00000360689.5	+	6	2251	c.524G>A	c.(523-525)gGa>gAa	p.G175E	FUT8_ENST00000394585.1_Missense_Mutation_p.G175E|FUT8_ENST00000557164.1_Missense_Mutation_p.G12E|FUT8_ENST00000394586.2_Missense_Mutation_p.G175E|FUT8_ENST00000358307.2_Missense_Mutation_p.G46E	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	175					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAGACAGATGGAGCAGGTGAT	0.413																																																	0								ENSG00000033170						141	135	137					14																	66096251		2203	4300	6503	FUT8	SO:0001583	missense	0			-	HGNC	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.524G>A	14.37:g.66096251G>A	ENSP00000353910:p.Gly175Glu	Somatic	0	96	0		0.52429534266604	0	100	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	41	57.73	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP							superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.G175E	ENST00000360689.5	37	c.524	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763368	0.89932	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94873	0.8032	10	0.62326	D	0.03	-17.2668	16.8447	0.85977	0.0:0.0:1.0:0.0	.	46;175	G3XAD2;Q9BYC5	.;FUT8_HUMAN	E	175;175;12;175;46	ENSP00000353910:G175E;ENSP00000378087:G175E;ENSP00000452433:G12E;ENSP00000378086:G175E;ENSP00000351057:G46E	ENSP00000345865:G175E	G	+	2	0	FUT8	65166004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.309000	0.78937	2.638000	0.89438	0.650000	0.86243	GGA	-	pirsf_Alpha1_6FUT_euk		0.413	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	protein_coding	OTTHUMT00000286406.1	G	NM_004480	-		66096251	1	no_errors	ENST00000360689	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66096251	G	A	66096251	3	1	196	1	0	0	0	0	1	0	0	0	6112	1174	41	2	637	2	FUT8	14	66096251	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1106926	66096251	41253289	1652	14924											
SLC8A3	6547	genome.wustl.edu	37	chr14	70515509	70515509	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagaggtgccaaatgccacGaaaacaacagctgtgactga	10	10	0	3	rs368263429		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:70515509G>A	ENST00000381269.2	-	7	3135	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	SLC8A3_ENST00000357887.3_Silent_p.F792F|SLC8A3_ENST00000534137.1_Silent_p.F791F|SLC8A3_ENST00000394330.2_Silent_p.F151F|SLC8A3_ENST00000528359.1_Silent_p.F792F|SLC8A3_ENST00000533541.1_Silent_p.F151F|SLC8A3_ENST00000216568.7_Silent_p.F165F|SLC8A3_ENST00000356921.2_Silent_p.F788F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	794					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAATGCCACGAAAACAACAG	0.507																																																	0								ENSG00000100678	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	60	48	52		495,2376,2373,2364,453,2382	-5.2	0.9	14		52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A3	NM_001130417.1,NM_033262.3,NM_058240.2,NM_182932.1,NM_182936.1,NM_183002.1	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	165/299,792/926,791/925,788/922,151/285,794/928	70515509	1,13005	2203	4300	6503	SLC8A3	SO:0001819	synonymous_variant	0			-	HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2382C>T	14.37:g.70515509G>A		Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	51	21.54	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.F794	ENST00000381269.2	37	c.2382	CCDS35498.1	14																																																																																			-	pfam_NaCa_Exmemb,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex		0.507	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	G		-		70515509	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	silent	SNP	0.742	A	A	70515509	G	A	70515509	2	1	196	1	0	0	0	0	0	0	0	1	14716	1049	37	1		1	SLC8A3	14	70515509	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4419258	70515509	36834031	1653	14925											
ADAM21	8747	genome.wustl.edu	37	chr14	70926145	70926145	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacctgcaatatgaagggGatctgcaataacaaacatca	9	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:70926145G>A	ENST00000603540.1	+	2	2187	c.1929G>A	c.(1927-1929)ggG>ggA	p.G643G	ADAM21_ENST00000267499.3_Silent_p.G643G|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	643	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATATGAAGGGGATCTGCAATA	0.522																																																	0								ENSG00000139985						132	116	121					14																	70926145		2203	4300	6503	ADAM21	SO:0001819	synonymous_variant	0			-	HGNC	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1929G>A	14.37:g.70926145G>A		Somatic	0	85	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.92	O43507|Q2VPC6|Q32MR0	Silent	SNP							pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G643	ENST00000603540.1	37	c.1929	CCDS9804.1	14																																																																																			-	NULL		0.522	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	protein_coding	OTTHUMT00000413008.3	G		-		70926145	1	no_errors	ENST00000267499	ensembl	human	known	74_37	silent	SNP	0.067	A	A	70926145	G	A	70926145	2	1	196	1	0	0	0	0	0	0	0	1	243	1161	41	2		2	ADAM21	14	70926145	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	410636	70926145	36423395	1654	14926											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72152078	72152078	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgccttgcccctaataGgagttgctctgaaacctacc	8	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:72152078G>A	ENST00000555818.1	+	10	3452		c.e10-1		SIPA1L1_ENST00000381232.3_Splice_Site|SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCCCTAATAGGAGTTGCTCT	0.408																																																	0								ENSG00000197555						174	172	173					14																	72152078		2203	4300	6503	SIPA1L1	SO:0001630	splice_region_variant	0			-	HGNC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3105-1G>A	14.37:g.72152078G>A		Somatic	0	117	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	49	49.48	J3KP19|O95321|Q9UDU4|Q9UNU4	Splice_Site	SNP							-	e9-1	ENST00000555818.1	37	c.3105-1	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206111	0.39003	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4911	0.95050	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIPA1L1	71221831	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	8.742000	0.91588	2.670000	0.90874	0.561000	0.74099	.	-	-		0.408	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	G	NM_015556	-	Intron	72152078	1	no_errors	ENST00000555818	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	72152078	G	A	72152078	5	1	196	1	0	0	0	0	0	0	1	0	14337	1014	35	2	3138	2	SIPA1L1	14	72152078	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1225933	72152078	35197462	1655	14927											
DCAF4	26094	genome.wustl.edu	37	chr14	73406981	73406981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgctacttccgcttgctcCctggacataacaactgcaac	6	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73406981C>T	ENST00000358377.2	+	4	467	c.247C>T	c.(247-249)Cct>Tct	p.P83S	DCAF4_ENST00000353777.3_Missense_Mutation_p.P83S|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000555042.1_Missense_Mutation_p.P83S|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.P83S	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	83					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCGCTTGCTCCCTGGACATAA	0.478																																																	0								ENSG00000119599						116	114	115					14																	73406981		2203	4300	6503	DCAF4	SO:0001583	missense	0			-	HGNC	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.247C>T	14.37:g.73406981C>T	ENSP00000351147:p.Pro83Ser	Somatic	0	83	0		0.52429534266604	5	66.67	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P83S	ENST00000358377.2	37	c.247	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262960	0.80358	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	T;T;T;T	0.78707	-0.0;-1.2;-0.39;-0.41	5.37	3.55	0.40652	.	0.155316	0.64402	N	0.000018	T	0.79936	0.4532	L	0.58810	1.83	0.80722	D	1	P;P;D;P;B;D	0.54964	0.829;0.862;0.969;0.915;0.208;0.969	B;P;P;P;B;P	0.53518	0.343;0.539;0.728;0.728;0.048;0.666	T	0.79342	-0.1843	10	0.66056	D	0.02	.	9.948	0.41621	0.0:0.7742:0.0:0.2258	.	83;61;83;83;83;83	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	S	83	ENSP00000351147:P83S;ENSP00000345176:P83S;ENSP00000426178:P83S;ENSP00000452131:P83S	ENSP00000345176:P83S	P	+	1	0	DCAF4	72476734	1.000000	0.71417	0.572000	0.28498	0.983000	0.72400	7.485000	0.81204	0.652000	0.30806	0.655000	0.94253	CCT	-	NULL		0.478	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	protein_coding	OTTHUMT00000361058.1	C	NM_015604	-		73406981	1	no_errors	ENST00000358377	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73406981	C	T	73406981	3	4	196	1	0	0	0	0	1	0	0	0	4272	623	22	2	257	2	DCAF4	14	73406981	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1254903	73406981	33942559	1656	14928											
ZFYVE1	53349	genome.wustl.edu	37	chr14	73437767	73437767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccggcagttgtggcagtgGaggatttcgtggtcaggcac	16	8	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73437767G>A	ENST00000556143.1	-	12	2877	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	ZFYVE1_ENST00000394207.2_Silent_p.L304L|ZFYVE1_ENST00000553891.1_Silent_p.L719L|ZFYVE1_ENST00000555072.1_Silent_p.L304L|ZFYVE1_ENST00000318876.5_Silent_p.L705L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	719					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTGGCAGTGGAGGATTTCGT	0.612																																																	0								ENSG00000165861						83	76	78					14																	73437767		2203	4300	6503	ZFYVE1	SO:0001819	synonymous_variant	0			-	HGNC	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2157C>T	14.37:g.73437767G>A		Somatic	0	21	0		0.52429534266604	17	32	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	27.78	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L719	ENST00000556143.1	37	c.2157	CCDS9811.1	14																																																																																			-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.612	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	protein_coding	OTTHUMT00000413172.1	G	NM_021260	-		73437767	-1	no_errors	ENST00000553891	ensembl	human	known	74_37	silent	SNP	0.986	A	A	73437767	G	A	73437767	2	1	196	1	0	0	0	0	0	0	0	1	17670	1161	41	2		2	ZFYVE1	14	73437767	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	30786	73437767	33911773	1657	14929											
HEATR4	399671	genome.wustl.edu	37	chr14	73978825	73978825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaagctctgaagcaggttCtctactgtctcatggtgcca	9	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73978825C>T	ENST00000553558.1	-	7	1764	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	HEATR4_ENST00000560393.1_Silent_p.E434E|HEATR4_ENST00000334988.2_Silent_p.E481E	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	481										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)		GAAGCAGGTTCTCTACTGTCT	0.527																																																	0								ENSG00000187105						146	108	121					14																	73978825		2203	4300	6503	HEATR4	SO:0001819	synonymous_variant	0			-	HGNC	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.1443G>A	14.37:g.73978825C>T		Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	27	59.09	B7Z7V9|E9KL41	Silent	SNP							pfam_HEAT,superfamily_ARM-type_fold	p.E481	ENST00000553558.1	37	c.1443	CCDS9815.2	14																																																																																			-	superfamily_ARM-type_fold		0.527	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	protein_coding	OTTHUMT00000414422.2	C	NM_203309	-		73978825	-1	no_errors	ENST00000334988	ensembl	human	known	74_37	silent	SNP	0.858	T	T	73978825	C	T	73978825	2	4	196	1	0	0	0	0	0	0	0	1	7032	912	32	2		2	HEATR4	14	73978825	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	541058	73978825	33370715	1658	14930											
DNAL1	83544	genome.wustl.edu	37	chr14	74128706	74128706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagctttcactgtctAcaaactgcattgaaaaaatt	6	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:74128706A>T	ENST00000553645.2	+	4	210	c.169A>T	c.(169-171)Aca>Tca	p.T57S	DNAL1_ENST00000554871.1_Missense_Mutation_p.T18S|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_5'UTR|RNU6-240P_ENST00000516098.1_RNA|DNAL1_ENST00000540526.1_Missense_Mutation_p.T18S	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	57										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTCACTGTCTACAAACTGCAT	0.303																																																	0								ENSG00000119661						47	43	44					14																	74128706		1806	4056	5862	DNAL1	SO:0001583	missense	0			-	HGNC	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"chromosome 14 open reading frame 168"	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.169A>T	14.37:g.74128706A>T	ENSP00000452037:p.Thr57Ser	Somatic	0	44	0		0.52429534266604	11	42.11	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP							NULL	p.T57S	ENST00000553645.2	37	c.169	CCDS45134.1	14	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065423	0.36470	.	.	ENSG00000119661	ENST00000553645;ENST00000555919;ENST00000554871;ENST00000540526	T;T;T;T	0.53640	0.61;3.13;0.61;0.61	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.04994	-0.135	0.58432	D	0.999993	B	0.09022	0.002	B	0.15052	0.012	T	0.11518	-1.0584	10	0.07030	T	0.85	-1.4709	14.0109	0.64495	1.0:0.0:0.0:0.0	.	57	Q4LDG9	DNAL1_HUMAN	S	57;18;18;18	ENSP00000452037:T57S;ENSP00000451101:T18S;ENSP00000451834:T18S;ENSP00000439695:T18S	ENSP00000310360:T57S	T	+	1	0	DNAL1	73198459	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.055000	0.89453	2.005000	0.58758	0.260000	0.18958	ACA	-	NULL		0.303	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAL1	protein_coding	OTTHUMT00000414565.2	A	NM_031427	-		74128706	1	no_errors	ENST00000553645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74128706	A	T	74128706	3	4	196	1	0	0	0	0	1	0	0	0	4659	391	14	5	183	5	DNAL1	14	74128706	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	149881	74128706	33220834	1659	14931											
C14orf179	112752	genome.wustl.edu	37	chr14	76488722	76488722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggctgggcaggtgattCcgtgaaggcttcgaagtgag	19	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:76488722C>T	ENST00000314067.6	+	3	234	c.200C>T	c.(199-201)tCc>tTc	p.S67F	IFT43_ENST00000556742.1_Missense_Mutation_p.S67F|IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Missense_Mutation_p.S67F	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	67					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAGGTGATTCCGTGAAGGCT	0.478																																																	0								ENSG00000119650						145	144	144					14																	76488722		2203	4300	6503	IFT43	SO:0001583	missense	0			-	HGNC	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"Intraflagellar transport homologs"	29669	protein-coding gene	gene with protein product		614068	"chromosome 14 open reading frame 179", "intraflagellar transport 43 homolog (Chlamydomonas)"	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.200C>T	14.37:g.76488722C>T	ENSP00000324177:p.Ser67Phe	Somatic	0	49	0		0.52429534266604	109	37.36	65	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP							NULL	p.S67F	ENST00000314067.6	37	c.200	CCDS41973.1	14	.	.	.	.	.	.	.	.	.	.	C	9.640	1.138850	0.21123	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	T;T	0.48836	0.82;0.8	4.7	1.86	0.25419	.	0.488690	0.23704	N	0.045388	T	0.61615	0.2361	M	0.77616	2.38	0.19575	N	0.999969	D;B;D;B	0.69078	0.995;0.025;0.997;0.0	P;B;D;B	0.67900	0.88;0.027;0.954;0.003	T	0.52139	-0.8615	10	0.72032	D	0.01	-17.6056	5.996	0.19495	0.0:0.6776:0.1545:0.1679	.	67;67;67;67	Q96FT9;Q96FT9-3;Q96FT9-2;G3V385	IFT43_HUMAN;.;.;.	F	67	ENSP00000324177:S67F;ENSP00000238628:S67F	ENSP00000238628:S67F	S	+	2	0	IFT43	75558475	0.357000	0.24938	0.018000	0.16275	0.000000	0.00434	2.742000	0.47434	0.217000	0.20800	-0.991000	0.02546	TCC	-	NULL		0.478	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT43	protein_coding		C	NM_052873	-		76488722	1	no_errors	ENST00000238628	ensembl	human	known	74_37	missense	SNP	0.212	T	T	76488722	C	T	76488722	3	4	196	1	0	0	0	0	1	0	0	0	1764	855	30	2	210	2	C14orf179	14	76488722	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2360016	76488722	30860818	1660	14932											
C14orf166B	145497	genome.wustl.edu	37	chr14	77292847	77292847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtcaaattcatgcacatCcaattcccatcaaagcctac	6	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:77292847C>T	ENST00000393774.3	+	1	133	c.9C>T	c.(7-9)atC>atT	p.I3I	C14orf166B_ENST00000450042.2_5'UTR|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_5'Flank	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TCATGCACATCCAATTCCCAT	0.547																																					Ovarian(165;1056 1958 32571 36789 48728)												0								ENSG00000100565						68	71	70					14																	77292847		692	1591	2283	C14orf166B	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000393774.3:c.9C>T	14.37:g.77292847C>T		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27		Silent	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I3	ENST00000393774.3	37	c.9	CCDS9853.2	14																																																																																			-	NULL		0.547	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	protein_coding	OTTHUMT00000316592.1	C		-		77292847	1	no_errors	ENST00000393774	ensembl	human	known	74_37	silent	SNP	0.023	T	T	77292847	C	T	77292847	2	4	196	1	0	0	0	0	0	0	0	1	1759	845	30	2		2	C14orf166B	14	77292847	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	804125	77292847	30056693	1661	14933											
AHSA1	10598	genome.wustl.edu	37	chr14	77929031	77929031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacacaaatctcgtggCcttaatgaaggaagaagggg	13	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:77929031C>T	ENST00000216479.3	+	4	561	c.401C>T	c.(400-402)gCc>gTc	p.A134V	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.A134V	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	134					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AATCTCGTGGCCTTAATGAAG	0.438																																																	0								ENSG00000100591						127	117	121					14																	77929031		2203	4300	6503	AHSA1	SO:0001583	missense	0			-	HGNC	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.401C>T	14.37:g.77929031C>T	ENSP00000216479:p.Ala134Val	Somatic	0	91	0		0.52429534266604	77	77.99	280	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	36	56.10	B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP							pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.A134V	ENST00000216479.3	37	c.401	CCDS9863.1	14	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499794	0.44455	.	.	ENSG00000100591	ENST00000216479;ENST00000535854	.	.	.	5.61	4.72	0.59763	Activator of Hsp90 ATPase, N-terminal (2);	0.363955	0.32503	N	0.006020	T	0.52757	0.1754	L	0.40543	1.245	0.80722	D	1	B;P	0.34864	0.131;0.473	B;B	0.38106	0.063;0.265	T	0.53549	-0.8423	9	0.45353	T	0.12	-13.0223	15.1052	0.72315	0.0:0.7324:0.2676:0.0	.	134;134	B4DUR9;O95433	.;AHSA1_HUMAN	V	134	.	ENSP00000216479:A134V	A	+	2	0	AHSA1	76998784	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.702000	0.25631	1.350000	0.45770	0.557000	0.71058	GCC	-	pfam_AHSA1_N,superfamily_AHSA1_N		0.438	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	protein_coding	OTTHUMT00000414017.1	C	NM_012111	-		77929031	1	no_errors	ENST00000216479	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77929031	C	T	77929031	3	4	196	1	0	0	0	0	1	0	0	0	418	739	26	2	415	2	AHSA1	14	77929031	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	636184	77929031	29420509	1662	14934											
PTPN21	11099	genome.wustl.edu	37	chr14	88945912	88945912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcggcggtgaggggctcGctgacctcctgcagcgagtg	18	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:88945912G>C	ENST00000556564.1	-	13	2147	c.1863C>G	c.(1861-1863)agC>agG	p.S621R	PTPN21_ENST00000328736.3_Missense_Mutation_p.S621R	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	621					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAGGGGCTCGCTGACCTCCT	0.706																																																	0								ENSG00000070778						20	21	21					14																	88945912		2194	4284	6478	PTPN21	SO:0001583	missense	0			-	HGNC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1863C>G	14.37:g.88945912G>C	ENSP00000452414:p.Ser621Arg	Somatic	0	30	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	16	60.00		Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.S621R	ENST00000556564.1	37	c.1863	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712575	0.68730	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.79454	-1.27;-1.27	5.17	0.0752	0.14398	.	0.095192	0.64402	D	0.000001	D	0.84951	0.5586	M	0.78637	2.42	0.37664	D	0.922887	D	0.89917	1.0	D	0.83275	0.996	D	0.85064	0.0936	10	0.87932	D	0	.	9.2903	0.37782	0.4934:0.0:0.5066:0.0	.	621	Q16825	PTN21_HUMAN	R	621	ENSP00000330276:S621R;ENSP00000452414:S621R	ENSP00000330276:S621R	S	-	3	2	PTPN21	88015665	0.960000	0.32886	1.000000	0.80357	0.896000	0.52359	0.023000	0.13533	0.184000	0.20083	0.591000	0.81541	AGC	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.706	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	protein_coding	OTTHUMT00000410303.1	G		-		88945912	-1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	SNP	0.999	C	C	88945912	G	C	88945912	3	2	196	1	0	0	0	0	1	0	0	0	12794	1078	38	4	1689	4	PTPN21	14	88945912	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	11016881	88945912	18403628	1663	14935											
PTPN21	11099	genome.wustl.edu	37	chr14	88974314	88974314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttgttctaaggtacaaGgaatacttccttccaagata	7	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:88974314G>A	ENST00000556564.1	-	4	685	c.401C>T	c.(400-402)cCt>cTt	p.P134L	PTPN21_ENST00000328736.3_Missense_Mutation_p.P134L|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	134	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAGGTACAAGGAATACTTCC	0.318																																																	0								ENSG00000070778						93	88	90					14																	88974314		2202	4296	6498	PTPN21	SO:0001583	missense	0			-	HGNC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.401C>T	14.37:g.88974314G>A	ENSP00000452414:p.Pro134Leu	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	7	66.67		Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.P134L	ENST00000556564.1	37	c.401	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657305	0.29425	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.25	5.25	0.73442	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.147225	0.47852	D	0.000209	T	0.80793	0.4691	L	0.41079	1.255	0.80722	D	1	B;P	0.51653	0.002;0.947	B;P	0.54210	0.004;0.745	T	0.82149	-0.0600	10	0.56958	D	0.05	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	134;134	G3V3S6;Q16825	.;PTN21_HUMAN	L	134	ENSP00000330276:P134L;ENSP00000452414:P134L;ENSP00000451401:P134L	ENSP00000330276:P134L	P	-	2	0	PTPN21	88044067	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.828000	0.99408	2.442000	0.82660	0.591000	0.81541	CCT	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam		0.318	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	protein_coding	OTTHUMT00000410303.1	G		-		88974314	-1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88974314	G	A	88974314	3	1	196	1	0	0	0	0	1	0	0	0	12794	1000	35	2	3187	2	PTPN21	14	88974314	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	28402	88974314	18375226	1664	14936											
C14orf102	55051	genome.wustl.edu	37	chr14	90769430	90769430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgcttttcctgctctccttCctcgatggcatacaggccag	8	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:90769430C>T	ENST00000354366.3	-	6	1277	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E118K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	349																	TGCTCTCCTTCCTCGATGGCA	0.498																																																	0								ENSG00000119720						65	64	64					14																	90769430		2203	4300	6503	NRDE2	SO:0001583	missense	0			-	HGNC	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1045G>A	14.37:g.90769430C>T	ENSP00000346335:p.Glu349Lys	Somatic	0	28	0		0.52429534266604	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	6	72.73	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP							pfam_NRDE-2	p.E349K	ENST00000354366.3	37	c.1045	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986406	0.53934	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.30981	1.9;1.51	5.52	5.52	0.82312	Domain of unknown function DUF1740 (1);	0.413669	0.26518	N	0.023929	T	0.18383	0.0441	N	0.25144	0.715	0.37913	D	0.931446	B	0.19445	0.036	B	0.17098	0.017	T	0.08411	-1.0723	10	0.07030	T	0.85	-18.085	11.6765	0.51432	0.0:0.9182:0.0:0.0818	.	349	Q9H7Z3	CN102_HUMAN	K	349;118	ENSP00000346335:E349K;ENSP00000350579:E118K	ENSP00000346335:E349K	E	-	1	0	C14orf102	89839183	0.474000	0.25886	0.999000	0.59377	0.998000	0.95712	4.007000	0.57093	2.590000	0.87494	0.655000	0.94253	GAA	-	pfam_NRDE-2		0.498	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	protein_coding	OTTHUMT00000411264.1	C	NM_017970	-		90769430	-1	no_errors	ENST00000354366	ensembl	human	known	74_37	missense	SNP	0.870	T	T	90769430	C	T	90769430	3	4	196	1	0	0	0	0	1	0	0	0	1737	864	30	2	2485	2	C14orf102	14	90769430	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1795116	90769430	16580110	1665	14937											
KIAA1409	57578	genome.wustl.edu	37	chr14	94088139	94088139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagacgaacatcgtaggaaGtcgtgcatagatcggtgtga	13	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:94088139G>A	ENST00000393151.2	+	30	4560	c.4560G>A	c.(4558-4560)aaG>aaA	p.K1520K	UNC79_ENST00000555664.1_Silent_p.K1520K|UNC79_ENST00000256339.4_Silent_p.K1343K|UNC79_ENST00000553484.1_Silent_p.K1542K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1520					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCGTAGGAAGTCGTGCATAG	0.438																																																	0								ENSG00000133958						100	94	96					14																	94088139		2203	4300	6503	UNC79	SO:0001819	synonymous_variant	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4560G>A	14.37:g.94088139G>A		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	35	42.19	B5MDL6|Q6ZUT7	Silent	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.K1542	ENST00000393151.2	37	c.4626		14																																																																																			-	superfamily_ARM-type_fold		0.438	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	G	XM_028395	-		94088139	1	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	SNP	1.000	A	A	94088139	G	A	94088139	2	1	196	1	0	0	0	0	0	0	0	1	8232	1020	36	2		2	KIAA1409	14	94088139	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3318709	94088139	13261401	1666	14938											
KIAA1409	57578	genome.wustl.edu	37	chr14	94089060	94089060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatggagctgaggaatcCgaatttaagattcagattgt	13	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:94089060C>T	ENST00000393151.2	+	30	5481	c.5481C>T	c.(5479-5481)tcC>tcT	p.S1827S	UNC79_ENST00000555664.1_Silent_p.S1827S|UNC79_ENST00000256339.4_Silent_p.S1650S|UNC79_ENST00000553484.1_Silent_p.S1849S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1827					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGGAATCCGAATTTAAGA	0.473																																																	0								ENSG00000133958						67	62	63					14																	94089060		2203	4300	6503	UNC79	SO:0001819	synonymous_variant	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5481C>T	14.37:g.94089060C>T		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	42.11	B5MDL6|Q6ZUT7	Silent	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.S1849	ENST00000393151.2	37	c.5547		14																																																																																			-	superfamily_ARM-type_fold		0.473	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	C	XM_028395	-		94089060	1	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	SNP	0.287	T	T	94089060	C	T	94089060	2	4	196	1	0	0	0	0	0	0	0	1	8232	639	23	1		1	KIAA1409	14	94089060	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	921	94089060	13260480	1667	14939											
CLMN	79789	genome.wustl.edu	37	chr14	95679645	95679645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgctcctctctgcagtGggtgtgggtgggaaggatga	17	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:95679645G>A	ENST00000298912.4	-	6	632	c.519C>T	c.(517-519)ccC>ccT	p.P173P		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	173	Actin-binding.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTCTGCAGTGGGTGTGGGTG	0.562																																																	0								ENSG00000165959						148	121	130					14																	95679645		2203	4300	6503	CLMN	SO:0001819	synonymous_variant	0			-	HGNC	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.519C>T	14.37:g.95679645G>A		Somatic	0	73	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	31	52.31	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P173	ENST00000298912.4	37	c.519	CCDS9933.1	14																																																																																			-	superfamily_CH-domain		0.562	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	protein_coding	OTTHUMT00000414518.2	G		-		95679645	-1	no_errors	ENST00000298912	ensembl	human	known	74_37	silent	SNP	1.000	A	A	95679645	G	A	95679645	2	1	196	1	0	0	0	0	0	0	0	1	3544	1335	47	2		2	CLMN	14	95679645	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1590585	95679645	11669895	1668	14940											
VRK1	7443	genome.wustl.edu	37	chr14	97313613	97313613	+	Silent	SNP	C	C	T													gttcagaaatggattcgtacCcgtaagctgaagtacctggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:97313613C>T	ENST00000216639.3	+	5	455	c.306C>T	c.(304-306)acC>acT	p.T102T		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GGATTCGTACCCGTAAGCTGA	0.318																																																	0								ENSG00000100749						100	99	99					14																	97313613		2203	4300	6503	VRK1	SO:0001819	synonymous_variant	0			-	HGNC	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.306C>T	14.37:g.97313613C>T		Somatic	0	107	0		0.52429534266604	5	64.71	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	54	39.33	Q3SYL2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.T102	ENST00000216639.3	37	c.306	CCDS9947.1	14																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.318	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRK1	protein_coding	OTTHUMT00000413520.1	C	NM_003384	-		97313613	1	no_errors	ENST00000216639	ensembl	human	known	74_37	silent	SNP	1.000	T	T	97313613	C	T	97313613	2	4	196	1	0	0	0	0	0	0	0	1	17226	610	22	2		2	VRK1	14	97313613	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1633968	97313613	10035927	1669	14941	328	2									
VRK1	7443	genome.wustl.edu	37	chr14	97313614	97313614	+	Missense_Mutation	SNP	C	C	T													ttcagaaatggattcgtaccCgtaagctgaagtacctgggt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:97313614C>T	ENST00000216639.3	+	5	456	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GATTCGTACCCGTAAGCTGAA	0.318																																																	0								ENSG00000100749						100	98	99					14																	97313614		2203	4300	6503	VRK1	SO:0001583	missense	0			-	HGNC	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.307C>T	14.37:g.97313614C>T	ENSP00000216639:p.Arg103Cys	Somatic	0	107	0		0.52429534266604	5	64.71	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	54	39.33	Q3SYL2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R103C	ENST00000216639.3	37	c.307	CCDS9947.1	14	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553529	0.86127	.	.	ENSG00000100749	ENST00000216639	T	0.49432	0.78	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.346611	0.37857	N	0.001913	T	0.54334	0.1852	M	0.62154	1.92	0.36388	D	0.862369	D	0.58970	0.984	P	0.45071	0.468	T	0.65175	-0.6232	10	0.87932	D	0	-16.3172	20.2195	0.98323	0.0:1.0:0.0:0.0	.	103	Q99986	VRK1_HUMAN	C	103	ENSP00000216639:R103C	ENSP00000216639:R103C	R	+	1	0	VRK1	96383367	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.231000	0.58639	2.880000	0.98712	0.650000	0.86243	CGT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.318	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRK1	protein_coding	OTTHUMT00000413520.1	C	NM_003384	-		97313614	1	no_errors	ENST00000216639	ensembl	human	known	74_37	missense	SNP	1.000	T	T	97313614	C	T	97313614	3	4	196	1	0	0	0	0	1	0	0	0	17226	652	23	1	321	1	VRK1	14	97313614	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	97313614	10035926	1670	14942	328	2									
TECPR2	9895	genome.wustl.edu	37	chr14	102900844	102900844	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgattctctggctgaggaaGatgacattagaactgaaatg	11	6	1	6			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:102900844G>A	ENST00000359520.7	+	9	1916	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	TECPR2_ENST00000558678.1_Missense_Mutation_p.D564N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	564					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCTGAGGAAGATGACATTAG	0.517																																																	0								ENSG00000196663						85	79	81					14																	102900844		2203	4300	6503	TECPR2	SO:0001583	missense	0			-	HGNC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1690G>A	14.37:g.102900844G>A	ENSP00000352510:p.Asp564Asn	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP							pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.D564N	ENST00000359520.7	37	c.1690	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.033944	0.07543	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.13778	2.56	5.1	-10.2	0.00374	.	3.044510	0.00879	N	0.002104	T	0.02230	0.0069	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29912	-0.9996	10	0.02654	T	1	.	0.9692	0.01412	0.32:0.195:0.2949:0.1902	.	564;564	A5PKY3;O15040	.;TCPR2_HUMAN	N	564	ENSP00000352510:D564N	ENSP00000352510:D564N	D	+	1	0	TECPR2	101970597	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.223000	0.09177	-3.164000	0.00227	-0.266000	0.10368	GAT	-	NULL		0.517	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	protein_coding	OTTHUMT00000415056.2	G	NM_014844	-		102900844	1	no_errors	ENST00000359520	ensembl	human	known	74_37	missense	SNP	0.000	A	A	102900844	G	A	102900844	3	1	196	1	0	0	0	0	1	0	0	0	15751	942	33	2	1720	2	TECPR2	14	102900844	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5587230	102900844	4448696	1671	14943											
AHNAK2	113146	genome.wustl.edu	37	chr14	105409323	105409323	+	Silent	SNP	G	G	A													ttcagctcagacacatccacGgacgcctccatggacttgcc					rs533157133	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:105409323G>A	ENST00000333244.5	-	7	12584	c.12465C>T	c.(12463-12465)tcC>tcT	p.S4155S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4155						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S4155S(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACATCCACGGACGCCTCCA	0.587																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000185567						232	241	238					14																	105409323		1962	4141	6103	AHNAK2	SO:0001819	synonymous_variant	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12465C>T	14.37:g.105409323G>A		Somatic	0	128	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	54	54.24	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S4155	ENST00000333244.5	37	c.12465	CCDS45177.1	14																																																																																			-	NULL		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	G	NM_138420	-		105409323	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	SNP	0.000	A	A	105409323	G	A	105409323	2	1	196	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105409323	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2508479	105409323	1940217	1672	14944	329	2									
AHNAK2	113146	genome.wustl.edu	37	chr14	105409324	105409324	+	Missense_Mutation	SNP	G	G	A													tcagctcagacacatccacgGacgcctccatggacttgcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:105409324G>A	ENST00000333244.5	-	7	12583	c.12464C>T	c.(12463-12465)tCc>tTc	p.S4155F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4155						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACGGACGCCTCCAT	0.587																																																	0								ENSG00000185567						233	242	239					14																	105409324		1962	4141	6103	AHNAK2	SO:0001583	missense	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12464C>T	14.37:g.105409324G>A	ENSP00000353114:p.Ser4155Phe	Somatic	1	128	0.77		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	55	54.17	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S4155F	ENST00000333244.5	37	c.12464	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	14.62	2.588824	0.46110	.	.	ENSG00000185567	ENST00000333244	T	0.00768	5.72	3.42	3.42	0.39159	.	.	.	.	.	T	0.04497	0.0123	M	0.87682	2.9	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.15492	-1.0435	9	0.52906	T	0.07	.	8.9086	0.35539	0.0:0.0:0.5856:0.4144	.	4155	Q8IVF2	AHNK2_HUMAN	F	4155	ENSP00000353114:S4155F	ENSP00000353114:S4155F	S	-	2	0	AHNAK2	104480369	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	1.304000	0.33482	1.776000	0.52262	0.306000	0.20318	TCC	-	NULL		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	G	NM_138420	-		105409324	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	SNP	0.005	A	A	105409324	G	A	105409324	3	1	196	1	0	0	0	0	1	0	0	0	415	1174	41	2	4927	2	AHNAK2	14	105409324	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	105409324	1940216	1673	14945	329	2									
APBA2	321	genome.wustl.edu	37	chr15	29397681	29397681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaagacttgagccagaagGaatacagcgacatcatcaac	9	11	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:29397681G>A	ENST00000558402.1	+	12	2223	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	APBA2_ENST00000561069.1_Missense_Mutation_p.E542K|APBA2_ENST00000558330.1_Missense_Mutation_p.E530K|APBA2_ENST00000411764.1_Missense_Mutation_p.E530K|APBA2_ENST00000558259.1_Missense_Mutation_p.E542K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	542	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)		GAGCCAGAAGGAATACAGCGA	0.572																																																	0								ENSG00000034053						172	121	138					15																	29397681		2202	4300	6502	APBA2	SO:0001583	missense	0			-	HGNC	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.1624G>A	15.37:g.29397681G>A	ENSP00000453293:p.Glu542Lys	Somatic	0	67	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	20	51.22	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.E542K	ENST00000558402.1	37	c.1624	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969553	0.74246	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.06933	3.24	4.07	4.07	0.47477	Phosphotyrosine interaction domain (1);PDZ/DHR/GLGF (1);	0.211797	0.40302	N	0.001128	T	0.12689	0.0308	M	0.68593	2.085	0.80722	D	1	P;P;P	0.40909	0.485;0.732;0.474	B;B;B	0.38378	0.26;0.272;0.15	T	0.05582	-1.0876	10	0.59425	D	0.04	.	15.7554	0.78018	0.0:0.0:1.0:0.0	.	530;530;542	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	K	530;542	ENSP00000409312:E530K	ENSP00000219865:E542K	E	+	1	0	APBA2	27184973	1.000000	0.71417	0.981000	0.43875	0.261000	0.26267	7.397000	0.79903	2.233000	0.73108	0.313000	0.20887	GAA	-	superfamily_PDZ,pfscan_PTB/PI_dom		0.572	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	protein_coding	OTTHUMT00000251362.3	G	NM_005503	-		29397681	1	no_errors	ENST00000558259	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29397681	G	A	29397681	3	1	196	1	0	0	0	0	1	0	0	0	757	1175	41	2	1654	2	APBA2	15	29397681	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		29397681	73133711	1674	14946											
RYR3	6263	genome.wustl.edu	37	chr15	34030743	34030743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggaagaagagctgcaCctaacggagaagcttttctg	13	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:34030743C>T	ENST00000389232.4	+	50	7678	c.7608C>T	c.(7606-7608)caC>caT	p.H2536H	RYR3_ENST00000415757.3_Silent_p.H2536H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2536	4 X approximate repeats.				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)		AAGAGCTGCACCTAACGGAGA	0.493											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000198838						106	115	112					15																	34030743		1923	4122	6045	RYR3	SO:0001819	synonymous_variant	0			-	HGNC		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.7608C>T	15.37:g.34030743C>T		Somatic	0	48	0	844	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	O15175|Q15412	Silent	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.H2536	ENST00000389232.4	37	c.7608	CCDS45210.1	15																																																																																			-	superfamily_ARM-type_fold		0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		34030743	1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	SNP	1.000	T	T	34030743	C	T	34030743	2	4	196	1	0	0	0	0	0	0	0	1	13778	506	18	2		2	RYR3	15	34030743	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4633062	34030743	68500649	1675	14947											
RYR3	6263	genome.wustl.edu	37	chr15	34147010	34147010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaccatgtcagtcctggGccactacaataacttcttct	5	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:34147010G>A	ENST00000389232.4	+	98	13974	c.13904G>A	c.(13903-13905)gGc>gAc	p.G4635D	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.G4630D|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4635					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)		TCAGTCCTGGGCCACTACAAT	0.443																																																	0								ENSG00000198838						251	237	242					15																	34147010		2004	4185	6189	RYR3	SO:0001583	missense	0			-	HGNC		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.13904G>A	15.37:g.34147010G>A	ENSP00000373884:p.Gly4635Asp	Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	18	58.14	O15175|Q15412	Missense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G4635D	ENST00000389232.4	37	c.13904	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.100315	0.94245	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98567	-5.0	4.72	4.72	0.59763	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98748	1.0719	10	0.87932	D	0	.	18.2253	0.89915	0.0:0.0:1.0:0.0	.	4630;4635	Q15413-2;Q15413	.;RYR3_HUMAN	D	4635;4631	ENSP00000373884:G4635D	ENSP00000354735:G4631D	G	+	2	0	RYR3	31934302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.441000	0.97557	2.601000	0.87937	0.585000	0.79938	GGC	-	pfam_Ion_trans_dom		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		34147010	1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34147010	G	A	34147010	3	1	196	1	0	0	0	0	1	0	0	0	13778	1203	42	2	14294	2	RYR3	15	34147010	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	116267	34147010	68384382	1676	14948											
SPINT1	6692	genome.wustl.edu	37	chr15	41136786	41136786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgatggcccgcgcccgcCtcgccccggccggcatccct	13	21	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:41136786C>T	ENST00000344051.4	+	2	268	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	RP11-532F12.5_ENST00000565315.1_RNA|RP11-532F12.5_ENST00000568419.1_RNA|SPINT1_ENST00000562057.1_Missense_Mutation_p.L12F|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000564302.1_RNA|SPINT1_ENST00000431806.1_Missense_Mutation_p.L12F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	12					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ccgcgcccgcctcgccccggc	0.761																																																	0								ENSG00000166145						10	13	12					15																	41136786		1878	3704	5582	SPINT1	SO:0001583	missense	0			-	HGNC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.34C>T	15.37:g.41136786C>T	ENSP00000342098:p.Leu12Phe	Somatic	0	9	0		0.52429534266604	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	Q7Z7D2	Missense_Mutation	SNP							pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L12F	ENST00000344051.4	37	c.34	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621746	0.28889	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95853	-3.83;-3.83	4.27	-0.419	0.12340	.	1.812950	0.02706	N	0.112267	D	0.90116	0.6912	N	0.08118	0	0.09310	N	1	B;P;B	0.35656	0.38;0.514;0.145	B;P;B	0.44518	0.265;0.452;0.177	D	0.84204	0.0452	10	0.34782	T	0.22	-2.5909	1.8652	0.03197	0.1612:0.4917:0.1572:0.1899	.	12;12;12	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	F	12	ENSP00000342098:L12F;ENSP00000409935:L12F	ENSP00000342098:L12F	L	+	1	0	SPINT1	38924078	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.300000	0.08243	0.036000	0.15547	-0.368000	0.07277	CTC	-	NULL		0.761	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	protein_coding	OTTHUMT00000252359.2	C	NM_003710	-		41136786	1	no_errors	ENST00000344051	ensembl	human	known	74_37	missense	SNP	0.000	T	T	41136786	C	T	41136786	3	4	196	1	0	0	0	0	1	0	0	0	15075	681	24	2	36	2	SPINT1	15	41136786	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6989776	41136786	61394606	1677	14949											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42139646	42139646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccacaccttctccgacCccacctgccccggagcccct	7	22	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:42139646C>T	ENST00000452633.1	+	20	2411	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.P918S|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.P687S|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.P918S			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	687	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CTTCTCCGACCCCACCTGCCC	0.682																																																	0								ENSG00000168970						81	88	85					15																	42139646		2203	4300	6503	JMJD7-PLA2G4B	SO:0001583	missense	0			-	HGNC	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2059C>T	15.37:g.42139646C>T	ENSP00000396045:p.Pro687Ser	Somatic	0	23	0		0.52429534266604	6	76.92	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP							pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P918S	ENST00000452633.1	37	c.2752	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629381	0.28978	.	.	ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000458483;ENST00000452633	T;T;T	0.04156	3.69;3.69;3.69	5.09	5.09	0.68999	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.191836	0.34750	N	0.003720	T	0.14098	0.0341	.	.	.	0.29262	N	0.87124	D;D	0.89917	1.0;0.986	D;P	0.97110	1.0;0.73	T	0.03887	-1.0995	9	0.39692	T	0.17	-24.5286	6.9802	0.24698	0.1739:0.7383:0.0:0.0878	.	687;918	P0C869;P0C869-6	PA24B_HUMAN;.	S	918;687;687	ENSP00000371886:P918S;ENSP00000416610:P687S;ENSP00000396045:P687S	ENSP00000371886:P918S	P	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39926938	0.932000	0.31603	0.867000	0.34043	0.044000	0.14063	0.776000	0.26704	2.551000	0.86045	0.561000	0.74099	CCC	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.682	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	protein_coding	OTTHUMT00000345969.1	C	NM_001114633	-		42139646	1	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	SNP	0.898	T	T	42139646	C	T	42139646	3	4	196	1	0	0	0	0	1	0	0	0	7957	623	22	2	2846	2	JMJD7-PLA2G4B	15	42139646	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1002860	42139646	60391746	1678	14950											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42437881	42437881	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcgctgccccacatacCtaaggagacaggcaggcccc	11	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:42437881C>T	ENST00000382396.4	-	16	1759		c.e16-1		PLA2G4F_ENST00000397272.3_Splice_Site			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF						arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCCCACATACCTAAGGAGACA	0.642																																																	0								ENSG00000168907						52	56	54					15																	42437881		2203	4299	6502	PLA2G4F	SO:0001630	splice_region_variant	0			-	HGNC		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1673-1G>A	15.37:g.42437881C>T		Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	33	56.00	Q6ZMC8	Splice_Site	SNP							-	e16-1	ENST00000382396.4	37	c.1679-1	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979374	0.53827	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4F	40225173	1.000000	0.71417	0.957000	0.39632	0.083000	0.17756	5.817000	0.69229	2.499000	0.84300	0.484000	0.47621	.	-	-		0.642	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	protein_coding	OTTHUMT00000420463.1	C	NM_213600	-	Intron	42437881	-1	no_errors	ENST00000397272	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	42437881	C	T	42437881	5	4	196	1	0	0	0	0	0	0	1	0	12008	695	24	2	897	2	PLA2G4F	15	42437881	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	298235	42437881	60093511	1679	14951											
TTBK2	146057	genome.wustl.edu	37	chr15	43045337	43045337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccttggagagtaaagttCcacagtgggctccatgggct	12	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:43045337C>T	ENST00000267890.6	-	14	2215	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	703					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAGTAAAGTTCCACAGTGGGC	0.493																																																	0								ENSG00000128881						85	83	84					15																	43045337		1867	4106	5973	TTBK2	SO:0001583	missense	0			-	HGNC	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2107G>A	15.37:g.43045337C>T	ENSP00000267890:p.Glu703Lys	Somatic	0	46	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E703K	ENST00000267890.6	37	c.2107	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465121	0.63513	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.46451	0.87	5.67	5.67	0.87782	.	0.650919	0.16354	N	0.218072	T	0.43433	0.1247	L	0.56769	1.78	0.80722	D	1	B;B	0.34329	0.449;0.115	B;B	0.26094	0.066;0.03	T	0.47289	-0.9129	10	0.87932	D	0	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	634;703	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	K	703;633;1108	ENSP00000267890:E703K	ENSP00000263802:E1108K	E	-	1	0	TTBK2	40832629	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.038000	0.64177	2.665000	0.90641	0.655000	0.94253	GAA	-	NULL		0.493	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	protein_coding	OTTHUMT00000431106.2	C	NM_173500	-		43045337	-1	no_errors	ENST00000267890	ensembl	human	known	74_37	missense	SNP	0.998	T	T	43045337	C	T	43045337	3	4	196	1	0	0	0	0	1	0	0	0	16684	864	30	2	1635	2	TTBK2	15	43045337	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	607456	43045337	59486055	1680	14952											
ZSCAN29	146050	genome.wustl.edu	37	chr15	43658600	43658600	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtggccgctcttgactttCcgatagctcttctggagacc	12	12	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:43658600C>T	ENST00000396976.2	-	3	1064	c.930G>A	c.(928-930)cgG>cgA	p.R310R	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Silent_p.R309R|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	310					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)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTGACTTTCCGATAGCTCT	0.567																																																	0								ENSG00000140265						80	87	85					15																	43658600		2201	4299	6500	ZSCAN29	SO:0001819	synonymous_variant	0			-	HGNC	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.930G>A	15.37:g.43658600C>T		Somatic	0	33	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R310	ENST00000396976.2	37	c.930	CCDS10095.2	15																																																																																			-	NULL		0.567	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	protein_coding	OTTHUMT00000253278.1	C	NM_152455	-		43658600	-1	no_errors	ENST00000396976	ensembl	human	known	74_37	silent	SNP	0.938	T	T	43658600	C	T	43658600	2	4	196	1	0	0	0	0	0	0	0	1	18243	842	30	2		2	ZSCAN29	15	43658600	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	613263	43658600	58872792	1681	14953											
CASC4	113201	genome.wustl.edu	37	chr15	44581550	44581550	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagagatgcgaggatgAcaaggtaaggacgacccttt	15	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:44581550A>T	ENST00000345795.2	+	1	593	c.323A>T	c.(322-324)gAc>gTc	p.D108V	CASC4_ENST00000299957.6_Missense_Mutation_p.D108V|CASC4_ENST00000360824.3_Missense_Mutation_p.D108V|CASC4_ENST00000429162.2_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	108						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)		TGCGAGGATGACAAGGTAAGG	0.577																																																	0								ENSG00000166734						10	12	11					15																	44581550		2158	4270	6428	CASC4	SO:0001583	missense	0			-	HGNC	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	ENST00000345795.2:c.323A>T	15.37:g.44581550A>T	ENSP00000335063:p.Asp108Val	Somatic	0	40	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP							NULL	p.D108V	ENST00000345795.2	37	c.323	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131851	0.56828	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	D;D	0.84223	-1.82;-1.82	5.57	5.57	0.84162	.	0.150621	0.64402	D	0.000011	D	0.87977	0.6314	M	0.61703	1.905	0.80722	D	1	D;D;D	0.63880	0.958;0.993;0.987	P;P;P	0.59889	0.587;0.865;0.854	D	0.86952	0.2086	10	0.39692	T	0.17	.	8.3726	0.32423	0.8822:0.0:0.1178:0.0	.	108;108;108	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	V	108;108;108;108;87	ENSP00000299957:D108V;ENSP00000335063:D108V	ENSP00000299957:D108V	D	+	2	0	CASC4	42368842	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.213000	0.77950	2.112000	0.64535	0.402000	0.26972	GAC	-	NULL		0.577	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	protein_coding	OTTHUMT00000253816.1	A	NM_138423	-		44581550	1	no_errors	ENST00000299957	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44581550	A	T	44581550	3	4	196	1	0	0	0	0	1	0	0	0	2664	275	10	5	325	5	CASC4	15	44581550	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	922950	44581550	57949842	1682	14954											
DUOX2	50506	genome.wustl.edu	37	chr15	45386853	45386853	+	Missense_Mutation	SNP	G	G	A													caggcccgtgaacagactccGgttcagcactttctggaagt					rs371970228		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45386853G>A	ENST00000603300.1	-	33	4634	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W	DUOX2_ENST00000389039.6_Missense_Mutation_p.R1478W	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1478					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AACAGACTCCGGTTCAGCACT	0.637																																																	0								ENSG00000140279	G	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	76	60	65		4432	3.6	1	15		65	0,8596		0,0,4298	no	missense	DUOX2	NM_014080.4	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1478/1549	45386853	1,12991	2198	4298	6496	DUOX2	SO:0001583	missense	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4432C>T	15.37:g.45386853G>A	ENSP00000475084:p.Arg1478Trp	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	31	53.03	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R1478W	ENST00000603300.1	37	c.4432	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236482	0.79800	2.27E-4	0.0	ENSG00000140279	ENST00000389039	.	.	.	5.68	3.63	0.41609	Ferric reductase, NAD binding (1);	0.113132	0.64402	D	0.000016	T	0.78509	0.4294	M	0.83384	2.64	0.47065	D	0.999307	D	0.89917	1.0	D	0.75020	0.985	T	0.80661	-0.1283	9	0.46703	T	0.11	-28.753	13.3733	0.60725	0.0:0.0:0.6214:0.3786	.	1478	Q9NRD8	DUOX2_HUMAN	W	1478	.	ENSP00000373691:R1478W	R	-	1	2	DUOX2	43174145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.204000	0.58460	1.475000	0.48197	0.655000	0.94253	CGG	-	pfam_Fe_red_NAD-bd_6		0.637	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		G	NM_014080	-		45386853	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45386853	G	A	45386853	3	1	196	1	0	0	0	0	1	0	0	0	4803	1115	39	1	222	1	DUOX2	15	45386853	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	805303	45386853	57144539	1683	14955	330	2									
DUOX2	50506	genome.wustl.edu	37	chr15	45386854	45386854	+	Silent	SNP	G	G	A													aggcccgtgaacagactccgGttcagcactttctggaagtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45386854G>A	ENST00000603300.1	-	33	4633	c.4431C>T	c.(4429-4431)aaC>aaT	p.N1477N	DUOX2_ENST00000389039.6_Silent_p.N1477N	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1477					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACAGACTCCGGTTCAGCACTT	0.632																																																	0								ENSG00000140279						75	60	65					15																	45386854		2198	4298	6496	DUOX2	SO:0001819	synonymous_variant	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4431C>T	15.37:g.45386854G>A		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	30	53.85	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.N1477	ENST00000603300.1	37	c.4431	CCDS10117.1	15																																																																																			-	pfam_Fe_red_NAD-bd_6		0.632	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		G	NM_014080	-		45386854	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	SNP	1.000	A	A	45386854	G	A	45386854	2	1	196	1	0	0	0	0	0	0	0	1	4803	1252	44	2		2	DUOX2	15	45386854	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	45386854	57144538	1684	14956	330	2									
DUOX2	50506	genome.wustl.edu	37	chr15	45399614	45399614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacagcgaccagcacgtccCgcagggtggtatttcggatg	13	11	0	0	rs376118025		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45399614C>A	ENST00000603300.1	-	14	1824	c.1622G>T	c.(1621-1623)cGg>cTg	p.R541L	DUOX2_ENST00000389039.6_Missense_Mutation_p.R541L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	541	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R541L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCACGTCCCGCAGGGTGGT	0.532																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000140279						150	134	140					15																	45399614		2198	4298	6496	DUOX2	SO:0001583	missense	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1622G>T	15.37:g.45399614C>A	ENSP00000475084:p.Arg541Leu	Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	36	44.62	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R541L	ENST00000603300.1	37	c.1622	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065260	0.20067	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.5	2.18	0.27775	.	0.386867	0.29767	N	0.011246	T	0.41696	0.1170	L	0.54908	1.71	0.21325	N	0.999725	B;B	0.29253	0.087;0.239	B;B	0.37601	0.049;0.254	T	0.30001	-0.9993	9	0.11485	T	0.65	-8.2398	9.613	0.39674	0.0:0.629:0.0:0.371	.	541;103	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	541	.	ENSP00000373691:R541L	R	-	2	0	DUOX2	43186906	0.218000	0.23608	0.896000	0.35187	0.539000	0.34962	0.507000	0.22675	0.717000	0.32145	-0.119000	0.15052	CGG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.532	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		C	NM_014080	-		45399614	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	SNP	0.313	A	A	45399614	C	A	45399614	3	1	196	1	0	0	0	0	1	0	0	0	4803	652	23	3	3108	3	DUOX2	15	45399614	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	12760	45399614	57131778	1685	14957											
DUOX1	53905	genome.wustl.edu	37	chr15	45430157	45430157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagggggtcatcaatcGgaactcaagtgtctccagag	11	11	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45430157G>A	ENST00000321429.4	+	11	1465	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R353Q|DUOX1_ENST00000561166.1_5'Flank	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	353	Peroxidase-like; mediates peroxidase activity.				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)		GTCATCAATCGGAACTCAAGT	0.532																																																	0								ENSG00000137857						98	97	97					15																	45430157		2198	4298	6496	DUOX1	SO:0001583	missense	0			-	HGNC	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.1058G>A	15.37:g.45430157G>A	ENSP00000317997:p.Arg353Gln	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	19	54.76	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.R353Q	ENST00000321429.4	37	c.1058	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	9.074	0.997550	0.19043	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85955	-2.05;-2.05	4.6	-3.79	0.04320	.	2.000400	0.02079	N	0.052161	T	0.63094	0.2482	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58358	-0.7650	10	0.15499	T	0.54	-1.14	7.578	0.27948	0.586:0.1242:0.2898:0.0	.	353	Q9NRD9	DUOX1_HUMAN	Q	353	ENSP00000317997:R353Q;ENSP00000373689:R353Q	ENSP00000317997:R353Q	R	+	2	0	DUOX1	43217449	0.000000	0.05858	0.003000	0.11579	0.955000	0.61496	-1.836000	0.01690	-0.918000	0.03808	-0.471000	0.05019	CGG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.532	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	G	NM_017434	-		45430157	1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	SNP	0.000	A	A	45430157	G	A	45430157	3	1	196	1	0	0	0	0	1	0	0	0	4802	1116	39	1	1092	1	DUOX1	15	45430157	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	30543	45430157	57101235	1686	14958											
SLC24A5	283652	genome.wustl.edu	37	chr15	48427157	48427157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagcagttcttggtaTaatatatgacaaccaagttt	8	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:48427157T>C	ENST00000341459.3	+	5	639	c.566T>C	c.(565-567)aTa>aCa	p.I189T	SLC24A5_ENST00000449382.2_Missense_Mutation_p.I129T	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	189					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GTTCTTGGTATAATATATGAC	0.323																																																	0								ENSG00000188467						79	76	77					15																	48427157		2198	4295	6493	SLC24A5	SO:0001583	missense	0			-	HGNC	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.566T>C	15.37:g.48427157T>C	ENSP00000341550:p.Ile189Thr	Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	36	46.27	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP							pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.I189T	ENST00000341459.3	37	c.566	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665807	0.47677	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.67171	-0.25;-0.25	5.56	5.56	0.83823	Sodium/calcium exchanger membrane region (1);	0.039223	0.85682	D	0.000000	T	0.60805	0.2297	L	0.37897	1.145	0.58432	D	0.999999	P;P	0.36354	0.549;0.505	B;B	0.39617	0.272;0.305	T	0.59632	-0.7418	10	0.32370	T	0.25	.	16.021	0.80493	0.0:0.0:0.0:1.0	.	129;189	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	T	189;129	ENSP00000341550:I189T;ENSP00000389966:I129T	ENSP00000341550:I189T	I	+	2	0	SLC24A5	46214449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.397000	0.79903	2.240000	0.73641	0.533000	0.62120	ATA	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.323	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	protein_coding	OTTHUMT00000254340.2	T	NM_205850	-		48427157	1	no_errors	ENST00000341459	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48427157	T	C	48427157	3	2	196	1	0	0	0	0	1	0	0	0	14477	1406	49	5	584	5	SLC24A5	15	48427157	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	2997000	48427157	54104235	1687	14959											
SLC24A5	283652	genome.wustl.edu	37	chr15	48434273	48434273	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgtgggatccaatgtgtttGatatgttgtgccttggtatt	12	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:48434273G>A	ENST00000341459.3	+	9	1301	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.D350N|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	410					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAATGTGTTTGATATGTTGTG	0.358																																																	0								ENSG00000188467						299	305	303					15																	48434273		2198	4297	6495	SLC24A5	SO:0001583	missense	0			-	HGNC	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1228G>A	15.37:g.48434273G>A	ENSP00000341550:p.Asp410Asn	Somatic	0	27	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP							pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.D410N	ENST00000341459.3	37	c.1228	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663429	0.88251	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.54866	0.55;0.55	5.87	5.87	0.94306	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.28694	0.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.51172	-0.8739	10	0.16420	T	0.52	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	350;410	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	N	410;350	ENSP00000341550:D410N;ENSP00000389966:D350N	ENSP00000341550:D410N	D	+	1	0	SLC24A5	46221565	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.283000	0.95860	2.941000	0.99782	0.655000	0.94253	GAT	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.358	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	protein_coding	OTTHUMT00000254340.2	G	NM_205850	-		48434273	1	no_errors	ENST00000341459	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48434273	G	A	48434273	3	1	196	1	0	0	0	0	1	0	0	0	14477	1290	45	2	1262	2	SLC24A5	15	48434273	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7116	48434273	54097119	1688	14960											
C15orf33	196951	genome.wustl.edu	37	chr15	49833903	49833903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaagaaaaatgttattcCctagatcttctttaaattca	3	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:49833903C>T	ENST00000299338.6	-	10	1151	c.848G>A	c.(847-849)gGg>gAg	p.G283E	FAM227B_ENST00000561064.1_Missense_Mutation_p.G249E	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	283																	AATGTTATTCCCTAGATCTTC	0.294																																																	0								ENSG00000166262						72	77	75					15																	49833903		2196	4288	6484	FAM227B	SO:0001583	missense	0			-	HGNC		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.848G>A	15.37:g.49833903C>T	ENSP00000299338:p.Gly283Glu	Somatic	0	234	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	85	71	54.49	Q86WS2	Missense_Mutation	SNP							NULL	p.G283E	ENST00000299338.6	37	c.848	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924619	0.52653	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	5.7	3.55	0.40652	.	0.247350	0.28327	N	0.015745	T	0.73806	0.3634	M	0.65975	2.015	0.53005	D	0.999966	D;D	0.71674	0.998;0.994	D;P	0.69142	0.962;0.86	T	0.72928	-0.4143	9	0.34782	T	0.22	-17.4095	12.7852	0.57500	0.4191:0.5809:0.0:0.0	.	249;283	Q96M60-2;Q96M60	.;CO033_HUMAN	E	283;249	.	ENSP00000299338:G283E	G	-	2	0	C15orf33	47621195	0.796000	0.28864	0.956000	0.39512	0.948000	0.59901	1.386000	0.34419	1.331000	0.45412	0.643000	0.83706	GGG	-	NULL		0.294	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	protein_coding	OTTHUMT00000417872.1	C	NM_152647	-		49833903	-1	no_errors	ENST00000299338	ensembl	human	known	74_37	missense	SNP	0.745	T	T	49833903	C	T	49833903	3	4	196	1	0	0	0	0	1	0	0	0	1793	623	22	2	706	2	C15orf33	15	49833903	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1399630	49833903	52697489	1689	14961											
UNC13C	440279	genome.wustl.edu	37	chr15	54305772	54305772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaaacccaaagacaaaTgccctggagccagggttcag	11	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:54305772T>C	ENST00000260323.11	+	1	672	c.672T>C	c.(670-672)aaT>aaC	p.N224N	UNC13C_ENST00000537900.1_Silent_p.N224N|UNC13C_ENST00000545554.1_Silent_p.N224N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	224					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAGACAAATGCCCTGGAGC	0.428																																																	0								ENSG00000137766						79	79	79					15																	54305772		1883	4101	5984	UNC13C	SO:0001819	synonymous_variant	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.672T>C	15.37:g.54305772T>C		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	17	52.78	Q0P613|Q8ND48|Q96NP3	Silent	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.N224	ENST00000260323.11	37	c.672	CCDS45264.1	15																																																																																			-	NULL		0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	T	NM_173166	-		54305772	1	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	SNP	0.000	C	C	54305772	T	C	54305772	2	2	196	1	0	0	0	0	0	0	0	1	16993	1461	51	5		5	UNC13C	15	54305772	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	4471869	54305772	48225620	1690	14962											
PYGO1	26108	genome.wustl.edu	37	chr15	55839183	55839183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctgaatgtactatagcCtccaaagccaggataaccag	7	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:55839183C>T	ENST00000302000.6	-	3	392	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	PYGO1_ENST00000563719.1_Missense_Mutation_p.G100S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	100	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTACTATAGCCTCCAAAGCCA	0.453																																																	0								ENSG00000171016						112	101	105					15																	55839183		2193	4292	6485	PYGO1	SO:0001583	missense	0			-	HGNC	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.298G>A	15.37:g.55839183C>T	ENSP00000302327:p.Gly100Ser	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28	A7Y2D6	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G100S	ENST00000302000.6	37	c.298	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115448	0.56505	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.54479	0.57	5.23	5.23	0.72850	.	0.120536	0.56097	D	0.000028	T	0.35970	0.0950	N	0.14661	0.345	0.41923	D	0.990523	P;P	0.37330	0.59;0.59	B;B	0.34180	0.177;0.177	T	0.18618	-1.0331	10	0.19590	T	0.45	-9.0858	18.1738	0.89754	0.0:1.0:0.0:0.0	.	100;100	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	S	100	ENSP00000302327:G100S	ENSP00000302327:G100S	G	-	1	0	PYGO1	53626475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.199000	0.51043	2.601000	0.87937	0.585000	0.79938	GGC	-	NULL		0.453	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	protein_coding	OTTHUMT00000254977.2	C	NM_015617	-		55839183	-1	no_errors	ENST00000302000	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55839183	C	T	55839183	3	4	196	1	0	0	0	0	1	0	0	0	12871	681	24	2	965	2	PYGO1	15	55839183	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1533411	55839183	46692209	1691	14963											
LIPC	3990	genome.wustl.edu	37	chr15	58855853	58855853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccatcatcccatggaGcacagggccgcgccactcag	10	17	2	1	rs6079	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:58855853G>A	ENST00000356113.6	+	10	1934	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	LIPC_ENST00000414170.3_Missense_Mutation_p.S440N|LIPC_ENST00000433326.2_Missense_Mutation_p.S379N|LIPC_ENST00000299022.5_Missense_Mutation_p.S440N			P11150	LIPC_HUMAN	lipase, hepatic	440	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.		S -> N (in dbSNP:rs6079). {ECO:0000269|PubMed:10391209}.		cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATCCCATGGAGCACAGGGCCG	0.527																																																	0								ENSG00000166035	G	ASN/SER	1,4383	2.1+/-5.4	0,1,2191	88	71	77		1319	2.9	0.7	15	dbSNP_52	77	0,8584		0,0,4292	no	missense	LIPC	NM_000236.2	46	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	benign	440/500	58855853	1,12967	2192	4292	6484	LIPC	SO:0001583	missense	0			-	HGNC		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1319G>A	15.37:g.58855853G>A	ENSP00000348425:p.Ser440Asn	Somatic	0	36	0		0.52429534266604	7	36.36	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP							pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.S440N	ENST00000356113.6	37	c.1319	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	4.610	0.113297	0.08831	2.28E-4	0.0	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.89050	-2.2;-2.2;-2.2;-2.46	5.9	2.87	0.33458	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	2.213760	0.02027	N	0.048235	D	0.84579	0.5503	L	0.43152	1.355	0.21290	N	0.999736	B;B	0.26602	0.056;0.154	B;B	0.31101	0.042;0.124	T	0.68326	-0.5438	10	0.08179	T	0.78	.	6.5675	0.22521	0.0793:0.2094:0.6099:0.1014	rs6079;rs6079	379;440	E7EUK6;P11150	.;LIPC_HUMAN	N	440;440;440;379	ENSP00000348425:S440N;ENSP00000395569:S440N;ENSP00000299022:S440N;ENSP00000395002:S379N	ENSP00000299022:S440N	S	+	2	0	LIPC	56643145	0.878000	0.30173	0.726000	0.30738	0.004000	0.04260	1.412000	0.34714	1.465000	0.48006	0.563000	0.77884	AGC	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom		0.527	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	protein_coding	OTTHUMT00000416209.1	G		rs6079		58855853	1	no_errors	ENST00000299022	ensembl	human	known	74_37	missense	SNP	0.651	A	A	58855853	G	A	58855853	3	1	196	1	0	0	0	0	1	0	0	0	8822	971	34	2	1349	2	LIPC	15	58855853	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3016670	58855853	43675539	1692	14964											
GCNT3	9245	genome.wustl.edu	37	chr15	59911478	59911478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgcctggctctgttccCaaccaccccaagtacgacat	8	15	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:59911478C>T	ENST00000396065.1	+	3	1489	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	GCNT3_ENST00000560585.1_Silent_p.P347P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	347					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTCTGTTCCCAACCACCCCA	0.522																																																	0								ENSG00000140297						129	115	119					15																	59911478		2190	4290	6480	GCNT3	SO:0001819	synonymous_variant	0			-	HGNC	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1041C>T	15.37:g.59911478C>T		Somatic	0	39	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62		Silent	SNP							pfam_Glyco_trans_14	p.P347	ENST00000396065.1	37	c.1041	CCDS10172.1	15																																																																																			-	pfam_Glyco_trans_14		0.522	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	protein_coding	OTTHUMT00000256068.1	C	NM_004751	-		59911478	1	no_errors	ENST00000396065	ensembl	human	known	74_37	silent	SNP	0.012	T	T	59911478	C	T	59911478	2	4	196	1	0	0	0	0	0	0	0	1	6304	581	21	2		2	GCNT3	15	59911478	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1055625	59911478	42619914	1693	14965											
CILP	8483	genome.wustl.edu	37	chr15	65496613	65496613	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaatttagttacctgccctCacaaactctgccttgatggt	7	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:65496613C>T	ENST00000261883.4	-	6	1078	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	304					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TACCTGCCCTCACAAACTCTG	0.463																																																	0								ENSG00000138615						76	76	76					15																	65496613		2201	4299	6500	CILP	SO:0001819	synonymous_variant	0			-	HGNC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.912G>A	15.37:g.65496613C>T		Somatic	0	100	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	60	33.33	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP							pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V304	ENST00000261883.4	37	c.912	CCDS10203.1	15																																																																																			-	NULL		0.463	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	protein_coding	OTTHUMT00000256829.1	C	NM_003613	-		65496613	-1	no_errors	ENST00000261883	ensembl	human	known	74_37	silent	SNP	0.078	T	T	65496613	C	T	65496613	2	4	196	1	0	0	0	0	0	0	0	1	3431	813	29	2		2	CILP	15	65496613	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5585135	65496613	37034779	1694	14966											
LCTL	197021	genome.wustl.edu	37	chr15	66855888	66855888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtgcaaggtcacgatgGgagtgatgttgctgctcaga	16	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:66855888G>A	ENST00000341509.5	-	4	577	c.446C>T	c.(445-447)cCc>cTc	p.P149L	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	149					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTCACGATGGGAGTGATGTT	0.527																																																	0								ENSG00000188501						166	136	146					15																	66855888		2201	4299	6500	LCTL	SO:0001583	missense	0			-	HGNC	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.446C>T	15.37:g.66855888G>A	ENSP00000343490:p.Pro149Leu	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	62.50	B3KQY0	Missense_Mutation	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P149L	ENST00000341509.5	37	c.446	CCDS10220.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.292489	0.95546	.	.	ENSG00000188501	ENST00000341509	T	0.48836	0.8	5.67	5.67	0.87782	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047674	0.85682	D	0.000000	T	0.80654	0.4664	H	0.97635	4.045	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.87226	0.2257	10	0.87932	D	0	-22.1127	18.7573	0.91837	0.0:0.0:1.0:0.0	.	149	Q6UWM7	LCTL_HUMAN	L	149	ENSP00000343490:P149L	ENSP00000343490:P149L	P	-	2	0	LCTL	64642942	1.000000	0.71417	0.967000	0.41034	0.959000	0.62525	9.271000	0.95698	2.689000	0.91719	0.462000	0.41574	CCC	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.527	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	protein_coding	OTTHUMT00000256921.2	G	NM_207338	-		66855888	-1	no_errors	ENST00000341509	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66855888	G	A	66855888	3	1	196	1	0	0	0	0	1	0	0	0	8696	1232	43	2	1297	2	LCTL	15	66855888	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1359275	66855888	35675504	1695	14967											
IQCH	64799	genome.wustl.edu	37	chr15	67709268	67709268	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttaatttgtttctgcaGgagccagctttggtgaagat	10	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:67709268G>A	ENST00000335894.4	+	15	2163		c.e15-1		IQCH_ENST00000358767.3_Splice_Site|IQCH_ENST00000360277.4_Splice_Site|IQCH_ENST00000546225.1_Splice_Site|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H											NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTTCTGCAGGAGCCAGCTT	0.448																																																	0								ENSG00000103599						43	41	42					15																	67709268		2201	4299	6500	IQCH	SO:0001630	splice_region_variant	0			-	HGNC	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2098-1G>A	15.37:g.67709268G>A		Somatic	0	33	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	11	54.17	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Splice_Site	SNP							-	e15-1	ENST00000335894.4	37	c.2098-1	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817874	0.71028	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	.	.	.	5.2	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7727	0.63036	0.0742:0.0:0.9257:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCH	65496322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.697000	0.84279	1.329000	0.45376	0.561000	0.74099	.	-	-		0.448	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	protein_coding	OTTHUMT00000256969.1	G	NM_022784	-	Intron	67709268	1	no_errors	ENST00000335894	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	67709268	G	A	67709268	5	1	196	1	0	0	0	0	0	0	1	0	7813	1014	35	2	2283	2	IQCH	15	67709268	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	853380	67709268	34822124	1696	14968											
MAP2K5	5607	genome.wustl.edu	37	chr15	67950923	67950923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtatataggaaaatgccaGaacatgtccttggaagaatt	9	5	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:67950923G>C	ENST00000178640.5	+	12	1396	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000340972.4_Missense_Mutation_p.E67Q|MAP2K5_ENST00000354498.5_Missense_Mutation_p.E221Q|MAP2K5_ENST00000395476.2_Missense_Mutation_p.E257Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GAAAATGCCAGAACATGTCCT	0.373																																																	0								ENSG00000137764						156	158	157					15																	67950923		2200	4298	6498	MAP2K5	SO:0001583	missense	0			-	HGNC	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.769G>C	15.37:g.67950923G>C	ENSP00000178640:p.Glu257Gln	Somatic	0	101	0		0.52429534266604	6	73.91	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	29	57.35	B4DE43|Q92961|Q92962	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E257Q	ENST00000178640.5	37	c.769	CCDS10224.1	15	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476827	0.84640	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043555	0.85682	D	0.000000	T	0.37073	0.0990	M	0.79614	2.46	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;D	0.76575	0.988;0.881;0.975;0.941	T	0.03969	-1.0988	10	0.87932	D	0	-23.1809	18.5357	0.91009	0.0:0.0:1.0:0.0	.	67;257;257;257	A6NK28;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	Q	257;257;257;221;67	ENSP00000378859:E257Q;ENSP00000178640:E257Q;ENSP00000346493:E221Q;ENSP00000342101:E67Q	ENSP00000178640:E257Q	E	+	1	0	MAP2K5	65737977	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.777000	0.85628	2.812000	0.96745	0.557000	0.71058	GAA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.373	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	protein_coding	OTTHUMT00000257041.1	G	NM_145162	-		67950923	1	no_errors	ENST00000178640	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67950923	G	C	67950923	3	2	196	1	0	0	0	0	1	0	0	0	9242	943	33	4	815	4	MAP2K5	15	67950923	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	241655	67950923	34580469	1697	14969											
LBXCOR1	390598	genome.wustl.edu	37	chr15	68124680	68124680	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaacgggaatttcagagtCtcaaaggtacccactgccat	10	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:68124680C>T	ENST00000380035.2	+	6	2714	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F	RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.L847F|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000389002.1_Missense_Mutation_p.L842F|SKOR1_ENST00000341418.5_Missense_Mutation_p.L789F|SKOR1_ENST00000554054.1_Missense_Mutation_p.L858F			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	886					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)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ATTTCAGAGTCTCAAAGGTAC	0.562											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000188779						105	102	103					15																	68124680		2200	4298	6498	SKOR1	SO:0001583	missense	0			-	HGNC		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.2656C>T	15.37:g.68124680C>T	ENSP00000369374:p.Leu886Phe	Somatic	0	63	0	1104	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	22	52.17	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP							pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.L886F	ENST00000380035.2	37	c.2656		15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254656	0.80135	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.62974	0.2472	L	0.29908	0.895	0.46260	D	0.998954	D	0.89917	1.0	D	0.91635	0.999	T	0.66348	-0.5946	10	0.72032	D	0.01	-27.755	16.7928	0.85593	0.0:1.0:0.0:0.0	.	842	P84550-3	.	F	789;847;858;886;842	ENSP00000343200:L789F;ENSP00000451193:L847F;ENSP00000452361:L858F;ENSP00000369374:L886F;ENSP00000373654:L842F	ENSP00000343200:L789F	L	+	1	0	SKOR1	65911734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.346000	0.65992	2.492000	0.84095	0.561000	0.74099	CTC	-	NULL		0.562	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	protein_coding	OTTHUMT00000410832.1	C	NM_001031807	-		68124680	1	no_errors	ENST00000380035	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68124680	C	T	68124680	3	4	196	1	0	0	0	0	1	0	0	0	8657	913	32	2	2550	2	LBXCOR1	15	68124680	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	173757	68124680	34406712	1698	14970											
THAP10	56906	genome.wustl.edu	37	chr15	71184585	71184585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggtggtgttgccgcaGtgggcggccacacaacgggc	17	11	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:71184585G>A	ENST00000249861.4	-	1	539	c.27C>T	c.(25-27)caC>caT	p.H9H	LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	9							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTTGCCGCAGTGGGCGGCCA	0.721																																																	0								ENSG00000129028						7	10	9					15																	71184585		2167	4269	6436	THAP10	SO:0001819	synonymous_variant	0			-	HGNC	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"THAP (C2CH-type zinc finger) domain containing"	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.27C>T	15.37:g.71184585G>A		Somatic	0	18	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	10	54.55	B2R8R0	Silent	SNP							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.H9	ENST00000249861.4	37	c.27	CCDS10237.1	15																																																																																			-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.721	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP10	protein_coding	OTTHUMT00000257242.2	G	NM_020147	-		71184585	-1	no_errors	ENST00000249861	ensembl	human	known	74_37	silent	SNP	0.988	A	A	71184585	G	A	71184585	2	1	196	1	0	0	0	0	0	0	0	1	15849	1020	36	2		2	THAP10	15	71184585	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3059905	71184585	31346807	1699	14971											
LRRC49	54839	genome.wustl.edu	37	chr15	71329564	71329564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatccaaaggaaaaaaacctGgtattatcaacgaagaaaat	6	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:71329564G>T	ENST00000260382.5	+	15	2010	c.1750G>T	c.(1750-1752)Ggt>Tgt	p.G584C	LRRC49_ENST00000560158.2_Missense_Mutation_p.G272C|LRRC49_ENST00000560369.1_Missense_Mutation_p.G589C|LRRC49_ENST00000443425.2_Missense_Mutation_p.G540C|LRRC49_ENST00000560691.1_Missense_Mutation_p.G290C|LRRC49_ENST00000544974.2_Missense_Mutation_p.G574C|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	584						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAAAAAACCTGGTATTATCAA	0.303																																																	0								ENSG00000137821						83	91	88					15																	71329564		2199	4294	6493	LRRC49	SO:0001583	missense	0			-	HGNC		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1750G>T	15.37:g.71329564G>T	ENSP00000260382:p.Gly584Cys	Somatic	0	61	0		0.52429534266604	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G584C	ENST00000260382.5	37	c.1750	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230498	0.58777	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.36520	1.25;1.25;1.25	5.04	5.04	0.67666	.	0.127254	0.52532	D	0.000072	T	0.51227	0.1662	L	0.59436	1.845	0.42120	D	0.99142	D;D;D;D;P	0.67145	0.984;0.996;0.991;0.994;0.956	P;P;P;P;P	0.62435	0.8;0.902;0.902;0.794;0.694	T	0.53578	-0.8419	10	0.62326	D	0.03	-13.1423	11.7429	0.51803	0.0:0.1782:0.8218:0.0	.	589;556;540;584;574	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	C	574;584;540;556	ENSP00000439600:G574C;ENSP00000260382:G584C;ENSP00000414065:G540C	ENSP00000260382:G584C	G	+	1	0	LRRC49	69116618	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	4.405000	0.59741	2.324000	0.78689	0.655000	0.94253	GGT	-	NULL		0.303	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	protein_coding	OTTHUMT00000417209.3	G	NM_017691	-		71329564	1	no_errors	ENST00000260382	ensembl	human	known	74_37	missense	SNP	0.991	T	T	71329564	G	T	71329564	3	4	196	1	0	0	0	0	1	0	0	0	9008	1348	47	3	1808	3	LRRC49	15	71329564	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	144979	71329564	31201828	1700	14972											
GRAMD2	196996	genome.wustl.edu	37	chr15	72455621	72455621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttacagcacaaagaagacCttgaggagccggtaatccca	9	11	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:72455621C>A	ENST00000309731.7	-	10	955	c.942G>T	c.(940-942)aaG>aaT	p.K314N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	314						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CAAAGAAGACCTTGAGGAGCC	0.562																																																	0								ENSG00000175318						53	56	55					15																	72455621		2199	4297	6496	GRAMD2	SO:0001583	missense	0			-	HGNC	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.942G>T	15.37:g.72455621C>A	ENSP00000311657:p.Lys314Asn	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	B3KT68	Missense_Mutation	SNP							pfam_GRAM,smart_GRAM	p.K314N	ENST00000309731.7	37	c.942	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410979	0.62399	.	.	ENSG00000175318	ENST00000309731	T	0.39229	1.09	5.46	3.58	0.41010	.	0.065503	0.64402	D	0.000009	T	0.56337	0.1978	L	0.61218	1.895	0.46149	D	0.998894	D	0.89917	1.0	D	0.74348	0.983	T	0.56486	-0.7971	10	0.52906	T	0.07	.	8.7505	0.34613	0.0:0.8246:0.0:0.1754	.	314	Q8IUY3	GRAM2_HUMAN	N	314	ENSP00000311657:K314N	ENSP00000311657:K314N	K	-	3	2	GRAMD2	70242675	0.974000	0.33945	1.000000	0.80357	0.640000	0.38277	0.207000	0.17395	1.310000	0.45006	0.655000	0.94253	AAG	-	NULL		0.562	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	protein_coding	OTTHUMT00000420040.1	C	NM_001012642	-		72455621	-1	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72455621	C	A	72455621	3	1	196	1	0	0	0	0	1	0	0	0	6752	680	24	3	134	3	GRAMD2	15	72455621	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1126057	72455621	30075771	1701	14973											
GRAMD2	196996	genome.wustl.edu	37	chr15	72456010	72456010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggagtccacggatgatGgagggatacaagggatgttg	17	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:72456010G>A	ENST00000309731.7	-	9	702	c.689C>T	c.(688-690)cCa>cTa	p.P230L	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	230						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CACGGATGATGGAGGGATACA	0.537																																																	0								ENSG00000175318						118	100	106					15																	72456010		2199	4297	6496	GRAMD2	SO:0001583	missense	0			-	HGNC	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.689C>T	15.37:g.72456010G>A	ENSP00000311657:p.Pro230Leu	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	B3KT68	Missense_Mutation	SNP							pfam_GRAM,smart_GRAM	p.P230L	ENST00000309731.7	37	c.689	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	7.101	0.574039	0.13623	.	.	ENSG00000175318	ENST00000309731	T	0.29655	1.56	5.13	-5.36	0.02689	.	1.521200	0.04110	N	0.314539	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.19614	-1.0300	10	0.25106	T	0.35	.	6.5242	0.22293	0.0:0.4517:0.2163:0.332	.	230	Q8IUY3	GRAM2_HUMAN	L	230	ENSP00000311657:P230L	ENSP00000311657:P230L	P	-	2	0	GRAMD2	70243064	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.766000	0.04725	-1.688000	0.01435	-0.262000	0.10625	CCA	-	NULL		0.537	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	protein_coding	OTTHUMT00000420040.1	G	NM_001012642	-		72456010	-1	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	SNP	0.000	A	A	72456010	G	A	72456010	3	1	196	1	0	0	0	0	1	0	0	0	6752	1348	47	2	391	2	GRAMD2	15	72456010	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	389	72456010	30075382	1702	14974											
MAN2C1	4123	genome.wustl.edu	37	chr15	75658862	75658862	+	Splice_Site	SNP	C	C	T													aaccagggcacagggactcaCcttcgggggtctctttcccc					rs138736683	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:75658862C>T	ENST00000267978.5	-	4	469		c.e4+1		MAN2C1_ENST00000563539.1_Splice_Site|MAN2C1_ENST00000569482.1_Splice_Site|MAN2C1_ENST00000563622.1_Splice_Site|MAN2C1_ENST00000565683.1_Splice_Site|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1						mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGGGACTCACCTTCGGGGGT	0.577																																																	0								ENSG00000140400	C		0,4394		0,0,2197	53	42	45			3.7	1	15	dbSNP_134	45	4,8584	3.7+/-12.6	0,4,4290	yes	splice-5	MAN2C1	NM_006715.2		0,4,6487	TT,TC,CC		0.0466,0.0,0.0308			75658862	4,12978	2197	4294	6491	MAN2C1	SO:0001630	splice_region_variant	0			-	HGNC	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.422+1G>A	15.37:g.75658862C>T		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Splice_Site	SNP							-	e4+1	ENST00000267978.5	37	c.422+1	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154330	0.21371	0.0	4.66E-4	ENSG00000140400	ENST00000267978;ENST00000421803	.	.	.	4.63	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4455	0.50120	0.1805:0.8195:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAN2C1	73445915	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	6.939000	0.75911	0.922000	0.37019	-0.515000	0.04445	.	-	-		0.577	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	protein_coding	OTTHUMT00000419965.1	C		rs138736683	Intron	75658862	-1	no_errors	ENST00000267978	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	75658862	C	T	75658862	5	4	196	1	0	0	0	0	0	0	1	0	9220	521	18	2	2791	2	MAN2C1	15	75658862	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3202852	75658862	26872530	1703	14975	331	2									
MAN2C1	4123	genome.wustl.edu	37	chr15	75658863	75658863	+	Splice_Site	SNP	C	C	T													accagggcacagggactcacCttcgggggtctctttccccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:75658863C>T	ENST00000267978.5	-	4	468	c.422G>A	c.(421-423)aGc>aAc	p.S141N	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Splice_Site_p.S141N|MAN2C1_ENST00000563622.1_Splice_Site_p.S141N|MAN2C1_ENST00000565683.1_Splice_Site_p.S141N|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	141					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGGACTCACCTTCGGGGGTC	0.582																																																	0								ENSG00000140400						53	42	46					15																	75658863		2197	4294	6491	MAN2C1	SO:0001630	splice_region_variant	0			-	HGNC	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.422+1G>A	15.37:g.75658863C>T		Somatic	0	40	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP							pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S141N	ENST00000267978.5	37	c.422	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465850	0.26335	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.18016	2.24	4.63	3.71	0.42584	.	0.144208	0.64402	D	0.000010	T	0.14141	0.0342	L	0.44542	1.39	0.50467	D	0.999875	B;B;B	0.16396	0.002;0.017;0.017	B;B;B	0.15870	0.014;0.011;0.011	T	0.06643	-1.0815	9	.	.	.	-12.8893	10.444	0.44483	0.0:0.908:0.0:0.092	.	141;141;141	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	N	141	ENSP00000267978:S141N	.	S	-	2	0	MAN2C1	73445916	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	3.392000	0.52537	0.950000	0.37743	0.485000	0.47835	AGC	-	NULL		0.582	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	protein_coding	OTTHUMT00000419965.1	C		-	Missense_Mutation	75658863	-1	no_errors	ENST00000267978	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75658863	C	T	75658863	5	4	196	1	0	0	0	0	0	0	1	0	9220	695	24	2	2792	2	MAN2C1	15	75658863	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	75658863	26872529	1704	14976	331	2									
PSTPIP1	9051	genome.wustl.edu	37	chr15	77317931	77317931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttcgtgagaggcagaagGagcagaggaagaaggtgagg	19	3	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:77317931G>A	ENST00000558012.1	+	5	829	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E113K|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E114K|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E114K	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	114					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GAGGCAGAAGGAGCAGAGGAA	0.637																																																	0								ENSG00000140368						19	20	20					15																	77317931		1999	4065	6064	PSTPIP1	SO:0001583	missense	0			-	HGNC	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.340G>A	15.37:g.77317931G>A	ENSP00000452746:p.Glu114Lys	Somatic	0	40	0		0.52429534266604	200	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP							pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.E179K	ENST00000558012.1	37	c.535	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907020	0.92107	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.38240	1.15;2.7	5.12	5.12	0.69794	Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.85462	2.755	0.80722	D	1	P;D;D;P	0.89917	0.498;1.0;0.997;0.884	P;D;D;P	0.91635	0.646;0.999;0.985;0.517	T	0.62642	-0.6811	10	0.20519	T	0.43	-6.8982	17.347	0.87312	0.0:0.0:1.0:0.0	.	114;113;114;114	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	K	114;113	ENSP00000368914:E114K;ENSP00000267939:E113K	ENSP00000267939:E113K	E	+	1	0	PSTPIP1	75104986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.172000	0.89677	2.388000	0.81334	0.563000	0.77884	GAG	-	superfamily_Prismane-like		0.637	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	protein_coding	OTTHUMT00000419373.2	G	NM_003978	-		77317931	1	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77317931	G	A	77317931	3	1	196	1	0	0	0	0	1	0	0	0	12726	1175	41	2	358	2	PSTPIP1	15	77317931	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1659068	77317931	25213461	1705	14977											
SH2D7	646892	genome.wustl.edu	37	chr15	78390433	78390433	+	Silent	SNP	C	C	T													atgctgactgctgcctgcccCcgggtaggcgccccacttcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:78390433C>T	ENST00000328828.5	+	3	429	c.429C>T	c.(427-429)ccC>ccT	p.P143P	SH2D7_ENST00000409568.2_Silent_p.P7P	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	143										endometrium(2)|kidney(2)|lung(3)	7						CTGCCTGCCCCCGGGTAGGCG	0.622																																																	0								ENSG00000183476						21	24	23					15																	78390433		2019	4165	6184	SH2D7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.429C>T	15.37:g.78390433C>T		Somatic	0	8	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	4	66.67		Silent	SNP							NULL	p.P7	ENST00000328828.5	37	c.21	CCDS45315.1	15																																																																																			-	NULL		0.622	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	protein_coding	OTTHUMT00000334660.2	C	NM_001101404	-		78390433	1	no_errors	ENST00000409568	ensembl	human	putative	74_37	silent	SNP	0.998	T	T	78390433	C	T	78390433	2	4	196	1	0	0	0	0	0	0	0	1	14247	610	22	2		2	SH2D7	15	78390433	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1072502	78390433	24140959	1706	14978	332	2									
SH2D7	646892	genome.wustl.edu	37	chr15	78390434	78390434	+	Missense_Mutation	SNP	C	C	T													tgctgactgctgcctgccccCgggtaggcgccccacttccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:78390434C>T	ENST00000328828.5	+	3	430	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	SH2D7_ENST00000409568.2_Missense_Mutation_p.R8W	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	144										endometrium(2)|kidney(2)|lung(3)	7						TGCCTGCCCCCGGGTAGGCGC	0.617																																																	0								ENSG00000183476						21	23	23					15																	78390434		2015	4163	6178	SH2D7	SO:0001583	missense	0			-	HGNC		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"SH2 domain containing"	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.430C>T	15.37:g.78390434C>T	ENSP00000327846:p.Arg144Trp	Somatic	0	8	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	4	66.67		Missense_Mutation	SNP							NULL	p.R8W	ENST00000328828.5	37	c.22	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	c	16.18	3.050293	0.55218	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.58506	0.33;0.77	4.58	2.62	0.31277	SH2 motif (1);	.	.	.	.	T	0.60392	0.2265	L	0.32530	0.975	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.60362	-0.7278	9	0.87932	D	0	-3.7551	5.796	0.18387	0.3333:0.5718:0.0:0.0949	.	144	A6NKC9	SH2D7_HUMAN	W	8;144	ENSP00000386676:R8W;ENSP00000327846:R144W	ENSP00000327846:R144W	R	+	1	2	SH2D7	76177489	0.375000	0.25089	1.000000	0.80357	0.703000	0.40648	0.649000	0.24843	0.901000	0.36495	-0.333000	0.08304	CGG	-	NULL		0.617	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	protein_coding	OTTHUMT00000334660.2	C	NM_001101404	-		78390434	1	no_errors	ENST00000409568	ensembl	human	putative	74_37	missense	SNP	0.999	T	T	78390434	C	T	78390434	3	4	196	1	0	0	0	0	1	0	0	0	14247	643	23	1	440	1	SH2D7	15	78390434	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	78390434	24140958	1707	14979	332	2									
AGPHD1	123688	genome.wustl.edu	37	chr15	78825620	78825620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtcagcctctggaaatGctgaatatcaagtgtctggg	12	8	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:78825620G>T	ENST00000569878.1	+	4	730	c.730G>T	c.(730-732)Gct>Tct	p.A244S	HYKK_ENST00000563233.1_Intron|HYKK_ENST00000388988.4_Missense_Mutation_p.A244S|HYKK_ENST00000408962.2_Intron			A2RU49	HYKK_HUMAN	hydroxylysine kinase	244						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										CTCTGGAAATGCTGAATATCA	0.363																																																	0								ENSG00000188266						90	83	85					15																	78825620		1891	4113	6004	HYKK	SO:0001583	missense	0			-	HGNC	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.730G>T	15.37:g.78825620G>T	ENSP00000455459:p.Ala244Ser	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.A244S	ENST00000569878.1	37	c.730	CCDS42063.1	15	.	.	.	.	.	.	.	.	.	.	G	3.544	-0.093033	0.07053	.	.	ENSG00000188266	ENST00000388988	T	0.29655	1.56	5.85	-1.01	0.10169	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.689830	0.14529	N	0.313974	T	0.12603	0.0306	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.28650	-1.0037	10	0.09590	T	0.72	-0.7035	2.2294	0.03993	0.357:0.2233:0.3238:0.0959	.	244	A2RU49	AGPD1_HUMAN	S	244	ENSP00000373640:A244S	ENSP00000373640:A244S	A	+	1	0	AGPHD1	76612675	0.000000	0.05858	0.014000	0.15608	0.669000	0.39330	0.103000	0.15292	-0.138000	0.11434	-0.137000	0.14449	GCT	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.363	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HYKK	protein_coding	OTTHUMT00000435834.1	G	NM_001013619	-		78825620	1	no_errors	ENST00000388988	ensembl	human	known	74_37	missense	SNP	0.000	T	T	78825620	G	T	78825620	3	4	196	1	0	0	0	0	1	0	0	0	393	1319	46	3	744	3	AGPHD1	15	78825620	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	435186	78825620	23705772	1708	14980											
IL16	3603	genome.wustl.edu	37	chr15	81592359	81592359	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacccactcttgtgcccCagcagcctgagcaagtactg	9	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:81592359C>T	ENST00000302987.4	+	13	2692	c.2692C>T	c.(2692-2694)Cag>Tag	p.Q898*	IL16_ENST00000394652.2_Nonsense_Mutation_p.Q197*|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_Nonsense_Mutation_p.Q898*			Q14005	IL16_HUMAN	interleukin 16	898					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCTTGTGCCCCAGCAGCCTGA	0.647																																																	0								ENSG00000172349						47	51	50					15																	81592359		2200	4298	6498	IL16	SO:0001587	stop_gained	0			-	HGNC	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2692C>T	15.37:g.81592359C>T	ENSP00000302935:p.Gln898*	Somatic	0	33	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	62.50	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Nonsense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.Q898*	ENST00000302987.4	37	c.2692	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488546	0.44249	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	.	.	.	4.39	2.26	0.28386	.	0.620414	0.13224	N	0.404145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.9593	0.58449	0.5013:0.4987:0.0:0.0	.	.	.	.	X	898;730;898;435;288;197;197	.	ENSP00000302935:Q898X	Q	+	1	0	IL16	79379414	0.010000	0.17322	0.000000	0.03702	0.015000	0.08874	0.171000	0.16685	0.147000	0.19030	0.655000	0.94253	CAG	-	NULL		0.647	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	protein_coding	OTTHUMT00000303952.1	C	NM_172217	-		81592359	1	no_errors	ENST00000302987	ensembl	human	known	74_37	nonsense	SNP	0.001	T	T	81592359	C	T	81592359	4	4	196	1	0	0	0	0	0	1	0	0	7635	595	21	2	2742	2	IL16	15	81592359	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2766739	81592359	20939033	1709	14981											
WDR93	56964	genome.wustl.edu	37	chr15	90255295	90255295	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actacctgtataaagatggaGatctctcaaggaggggactt	11	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:90255295G>A	ENST00000268130.7	+	5	701	c.600G>A	c.(598-600)gaG>gaA	p.E200E	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Silent_p.E200E	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	200					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TAAAGATGGAGATCTCTCAAG	0.413																																																	0								ENSG00000140527						86	87	87					15																	90255295		2200	4299	6499	WDR93	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.600G>A	15.37:g.90255295G>A		Somatic	0	102	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	41	54.44	Q8N7Y8|Q9NP89	Silent	SNP							superfamily_WD40_repeat_dom	p.E200	ENST00000268130.7	37	c.600	CCDS32326.1	15																																																																																			-	superfamily_WD40_repeat_dom		0.413	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	protein_coding	OTTHUMT00000416369.1	G	NM_020212	-		90255295	1	no_errors	ENST00000268130	ensembl	human	known	74_37	silent	SNP	0.007	A	A	90255295	G	A	90255295	2	1	196	1	0	0	0	0	0	0	0	1	17347	933	33	2		2	WDR93	15	90255295	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8662936	90255295	12276097	1710	14982											
SEMA4B	10509	genome.wustl.edu	37	chr15	90767145	90767145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagagtcttcagcggcctCtacaaggaggtgaaccgtga	13	10	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:90767145C>T	ENST00000411539.2	+	9	1379	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	SEMA4B_ENST00000379122.3_Silent_p.L368L|SEMA4B_ENST00000332496.6_Silent_p.L373L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	368	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCAGCGGCCTCTACAAGGAGG	0.587																																																	0								ENSG00000185033						48	53	51					15																	90767145		1967	4136	6103	SEMA4B	SO:0001819	synonymous_variant	0			-	HGNC	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1119C>T	15.37:g.90767145C>T		Somatic	0	74	0		0.52429534266604	2	77.78	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	29	58.57	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L373	ENST00000411539.2	37	c.1119	CCDS45347.1	15																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.587	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	protein_coding	OTTHUMT00000416810.1	C	NM_198925	-		90767145	1	no_errors	ENST00000332496	ensembl	human	known	74_37	silent	SNP	0.999	T	T	90767145	C	T	90767145	2	4	196	1	0	0	0	0	0	0	0	1	14040	900	32	2		2	SEMA4B	15	90767145	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	511850	90767145	11764247	1711	14983											
IQGAP1	8826	genome.wustl.edu	37	chr15	91027561	91027561	+	Missense_Mutation	SNP	G	G	A													cagtaatctacatttccattGgtgaaatcatcaacacccac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:91027561G>A	ENST00000268182.5	+	30	4022	c.3898G>A	c.(3898-3900)Ggt>Agt	p.G1300S	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G728S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1300	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATTTCCATTGGTGAAATCAT	0.368																																																	0								ENSG00000140575						109	103	105					15																	91027561		2198	4298	6496	IQGAP1	SO:0001583	missense	0			-	HGNC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3898G>A	15.37:g.91027561G>A	ENSP00000268182:p.Gly1300Ser	Somatic	0	83	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	28	54.10	A7MBM3	Missense_Mutation	SNP							pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.G1300S	ENST00000268182.5	37	c.3898	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952153	0.53293	.	.	ENSG00000140575	ENST00000268182	T	0.47869	0.83	5.65	5.65	0.86999	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	L	0.31120	0.905	0.80722	D	1	B	0.26195	0.144	B	0.21360	0.034	T	0.16689	-1.0394	10	0.10636	T	0.68	-18.5302	19.0935	0.93238	0.0:0.0:1.0:0.0	.	1300	P46940	IQGA1_HUMAN	S	1300	ENSP00000268182:G1300S	ENSP00000268182:G1300S	G	+	1	0	IQGAP1	88828565	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.618000	0.98365	2.827000	0.97445	0.650000	0.86243	GGT	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	protein_coding	OTTHUMT00000313493.1	G	NM_003870	-		91027561	1	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91027561	G	A	91027561	3	1	196	1	0	0	0	0	1	0	0	0	7816	1348	47	2	4016	2	IQGAP1	15	91027561	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	260416	91027561	11503831	1712	14984	333	2									
IQGAP1	8826	genome.wustl.edu	37	chr15	91027562	91027562	+	Missense_Mutation	SNP	G	G	A													agtaatctacatttccattgGtgaaatcatcaacacccaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:91027562G>A	ENST00000268182.5	+	30	4023	c.3899G>A	c.(3898-3900)gGt>gAt	p.G1300D	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G728D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1300	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATTTCCATTGGTGAAATCATC	0.368																																																	0								ENSG00000140575						108	102	104					15																	91027562		2198	4298	6496	IQGAP1	SO:0001583	missense	0			-	HGNC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3899G>A	15.37:g.91027562G>A	ENSP00000268182:p.Gly1300Asp	Somatic	0	84	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	28	54.10	A7MBM3	Missense_Mutation	SNP							pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.G1300D	ENST00000268182.5	37	c.3899	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308924	0.40895	.	.	ENSG00000140575	ENST00000268182	T	0.42131	0.98	5.65	5.65	0.86999	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.46614	1.455	0.80722	D	1	B	0.21905	0.062	B	0.17433	0.018	T	0.10917	-1.0609	10	0.26408	T	0.33	-18.5302	19.0935	0.93238	0.0:0.0:1.0:0.0	.	1300	P46940	IQGA1_HUMAN	D	1300	ENSP00000268182:G1300D	ENSP00000268182:G1300D	G	+	2	0	IQGAP1	88828566	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.618000	0.98365	2.827000	0.97445	0.650000	0.86243	GGT	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	protein_coding	OTTHUMT00000313493.1	G	NM_003870	-		91027562	1	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91027562	G	A	91027562	3	1	196	1	0	0	0	0	1	0	0	0	7816	1261	44	2	4017	2	IQGAP1	15	91027562	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	91027562	11503830	1713	14985	333	2									
LASS3	204219	genome.wustl.edu	37	chr15	101024834	101024834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatctttccacctggcgctCcgtcaagttacacttctttg	6	15	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:101024834C>T	ENST00000394113.1	-	7	1018	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.E110K|CERS3_ENST00000538112.2_Missense_Mutation_p.E110K			Q8IU89	CERS3_HUMAN	ceramide synthase 3	110					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E110*(1)									ACCTGGCGCTCCGTCAAGTTA	0.483																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000154227						82	69	73					15																	101024834		2203	4300	6503	CERS3	SO:0001583	missense	0			-	HGNC		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.328G>A	15.37:g.101024834C>T	ENSP00000377672:p.Glu110Lys	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q8NE64|Q8NEN6	Missense_Mutation	SNP							pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom	p.E110K	ENST00000394113.1	37	c.328	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739900	0.30865	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.96802	-4.13;-4.13	5.26	4.28	0.50868	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.301266	0.35772	N	0.002986	D	0.92838	0.7722	M	0.64997	1.995	0.45899	D	0.998743	P	0.42584	0.784	B	0.39971	0.315	D	0.89472	0.3744	10	0.07030	T	0.85	-17.1421	7.8048	0.29195	0.1643:0.7502:0.0:0.0856	.	110	Q8IU89	CERS3_HUMAN	K	110;121;110	ENSP00000284382:E110K;ENSP00000437640:E110K	ENSP00000284382:E110K	E	-	1	0	CERS3	98842357	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.733000	0.55029	2.448000	0.82819	0.655000	0.94253	GAG	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.483	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	protein_coding	OTTHUMT00000313594.4	C	NM_178842	-		101024834	-1	no_errors	ENST00000284382	ensembl	human	known	74_37	missense	SNP	0.996	T	T	101024834	C	T	101024834	3	4	196	1	0	0	0	0	1	0	0	0	8642	864	30	2	855	2	LASS3	15	101024834	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9997272	101024834	1506558	1714	14986											
OR4F15	390649	genome.wustl.edu	37	chr15	102358585	102358585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttcctcctggctaacCtctcaatcattgatatggca	6	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:102358585C>T	ENST00000332238.4	+	1	220	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	66						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)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCTGGCTAACCTCTCAATCAT	0.428																																																	0								ENSG00000182854						258	222	234					15																	102358585		2203	4300	6503	OR4F15	SO:0001583	missense	0			-	HGNC	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.196C>T	15.37:g.102358585C>T	ENSP00000333184:p.Leu66Phe	Somatic	0	91	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	36	48.57	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66F	ENST00000332238.4	37	c.196	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	19.26	3.793496	0.70452	.	.	ENSG00000182854	ENST00000332238	T	0.00354	7.93	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00468	0.0015	M	0.79123	2.44	0.42552	D	0.993118	P	0.45531	0.86	B	0.43360	0.417	D	0.83650	0.0155	9	.	.	.	.	17.0978	0.86641	0.0:1.0:0.0:0.0	.	66	Q8NGB8	O4F15_HUMAN	F	66	ENSP00000333184:L66F	.	L	+	1	0	OR4F15	100176108	0.623000	0.27094	0.990000	0.47175	0.996000	0.88848	1.250000	0.32850	2.902000	0.99343	0.650000	0.86243	CTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	protein_coding	OTTHUMT00000417594.1	C	NM_001001674	-		102358585	1	no_errors	ENST00000332238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102358585	C	T	102358585	3	4	196	1	0	0	0	0	1	0	0	0	11063	681	24	2	198	2	OR4F15	15	102358585	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1333751	102358585	172807	1715	14987											
LUC7L	55692	genome.wustl.edu	37	chr16	240099	240099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgctctcgggaggtagatCttgaccgcctccgacgccga	13	14	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:240099C>T	ENST00000293872.8	-	9	952	c.842G>A	c.(841-843)aGa>aAa	p.R281K	LUC7L_ENST00000397783.1_Missense_Mutation_p.R281K|LUC7L_ENST00000337351.4_Missense_Mutation_p.R281K|LUC7L_ENST00000397780.1_Missense_Mutation_p.R228K	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	281	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GGAGGTAGATCTTGACCGCCT	0.637																																																	0								ENSG00000007392						224	217	219					16																	240099		2203	4300	6503	LUC7L	SO:0001583	missense	0			-	HGNC	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.842G>A	16.37:g.240099C>T	ENSP00000293872:p.Arg281Lys	Somatic	0	85	0		0.52429534266604	259	37.41	156	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	68	32.00	B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP							pfam_Luc7-rel	p.R281K	ENST00000293872.8	37	c.842	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065932	0.55539	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780	T;T;T;T	0.56776	1.02;1.02;0.44;3.4	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.80616	2.505	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.72434	-0.4295	10	0.44086	T	0.13	.	17.6237	0.88089	0.0:1.0:0.0:0.0	.	281	Q9NQ29	LUC7L_HUMAN	K	281;281;281;80;228	ENSP00000337507:R281K;ENSP00000380885:R281K;ENSP00000413033:R80K;ENSP00000380882:R228K	ENSP00000293872:R281K	R	-	2	0	LUC7L	180100	0.998000	0.40836	0.975000	0.42487	0.943000	0.58893	6.712000	0.74681	2.404000	0.81709	0.655000	0.94253	AGA	-	NULL		0.637	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	protein_coding	OTTHUMT00000134239.1	C		-		240099	-1	no_errors	ENST00000293872	ensembl	human	known	74_37	missense	SNP	0.992	T	T	240099	C	T	240099	3	4	196	1	0	0	0	0	1	0	0	0	9084	913	32	2	285	2	LUC7L	16	240099	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		240099	90114654	1716	14988											
MSLNL	401827	genome.wustl.edu	37	chr16	830165	830165	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctctgcagggcacctGgaataaggtgggctgtgagg	17	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:830165G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.P279L			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGGGCACCTGGAATAAGGTG	0.692																																																	0								ENSG00000162006						18	23	21					16																	830165		1936	4133	6069	MSLNL	SO:0001627	intron_variant	0			-	HGNC			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-3C>T	16.37:g.830165G>A		Somatic	0	120	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	105	23.91		Missense_Mutation	SNP							pfam_Mesothelin	p.P279L	ENST00000442466.1	37	c.836		16	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430572	0.62844	.	.	ENSG00000162006	ENST00000293892	T	0.13778	2.56	4.44	3.47	0.39725	.	1.613290	0.03737	N	0.254380	T	0.12817	0.0311	.	.	.	0.30863	N	0.733307	.	.	.	.	.	.	T	0.27088	-1.0084	6	.	.	.	.	6.3339	0.21285	0.0995:0.1891:0.7115:0.0	.	.	.	.	L	279	ENSP00000293892:P279L	.	P	-	2	0	MSLNL	770166	0.001000	0.12720	0.401000	0.26359	0.011000	0.07611	0.647000	0.24812	1.211000	0.43351	0.563000	0.77884	CCA	-	NULL		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	protein_coding		G	NM_001025190	-		830165	-1	no_errors	ENST00000293892	ensembl	human	known	74_37	missense	SNP	0.583	A	A	830165	G	A	830165	1	1	196	0	1	0	0	0	0	0	0	0	9884	1348	47	2		2	MSLNL	16	830165	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	590066	830165	89524588	1717	14989											
C16orf91	283951	genome.wustl.edu	37	chr16	1470542	1470542	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcggcggcagggtgggccCgatcccgggaaccgggcaac	17	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1470542C>G	ENST00000442039.2	-	2	180	c.104G>C	c.(103-105)cGg>cCg	p.R35P	C16orf91_ENST00000563974.1_5'UTR|C16orf91_ENST00000310355.1_Missense_Mutation_p.R192P	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	35						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AGGGTGGGCCCGATCCCGGGA	0.657																																																	0								ENSG00000174109						34	37	36					16																	1470542		2199	4299	6498	C16orf91	SO:0001583	missense	0			-	HGNC	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.104G>C	16.37:g.1470542C>G	ENSP00000413100:p.Arg35Pro	Somatic	0	41	0		0.52429534266604	59	42.16	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	42.19	Q96RZ0	Missense_Mutation	SNP							prints_CCSMST1	p.R192P	ENST00000442039.2	37	c.575		16	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103947	0.06967	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	4.15	-3.42	0.04825	.	2.382310	0.02521	N	0.092585	T	0.27134	0.0665	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11372	-1.0590	8	0.48119	T	0.1	-0.6003	2.6461	0.04984	0.1148:0.4409:0.1553:0.2891	.	35	Q4G0I0	CSMT1_HUMAN	P	35;192	.	ENSP00000311390:R192P	R	-	2	0	C16orf91	1410543	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.501000	0.06398	-0.941000	0.03700	-1.367000	0.01198	CGG	-	NULL		0.657	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	protein_coding	OTTHUMT00000432502.1	C	NM_001010878	-		1470542	-1	no_errors	ENST00000310355	ensembl	human	known	74_37	missense	SNP	0.000	G	G	1470542	C	G	1470542	3	3	196	1	0	0	0	0	1	0	0	0	1846	652	23	4	501	4	C16orf91	16	1470542	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	640377	1470542	88884211	1718	14990											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1816257	1816257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaacgggaaggtcaaccCgtcccagtccacagaggagg	13	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1816257C>T	ENST00000250894.4	+	22	2820	c.2663C>T	c.(2662-2664)cCg>cTg	p.P888L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P882L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	888					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGGTCAACCCGTCCCAGTCC	0.652																																																	0								ENSG00000138834						40	52	48					16																	1816257		2110	4240	6350	MAPK8IP3	SO:0001583	missense	0			-	HGNC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2663C>T	16.37:g.1816257C>T	ENSP00000250894:p.Pro888Leu	Somatic	0	31	0		0.52429534266604	29	36.96	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	38	37.70	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP							pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.P888L	ENST00000250894.4	37	c.2663	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270620	0.23221	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.31247	1.5;1.5	5.09	4.07	0.47477	.	0.404947	0.28026	N	0.016900	T	0.21801	0.0525	L	0.29908	0.895	0.58432	D	0.999998	B;B;B	0.23650	0.006;0.089;0.057	B;B;B	0.19666	0.001;0.026;0.02	T	0.05451	-1.0884	10	0.49607	T	0.09	-21.5706	10.2587	0.43414	0.4341:0.5659:0.0:0.0	.	889;882;888	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	888;882	ENSP00000250894:P888L;ENSP00000348290:P882L	ENSP00000250894:P888L	P	+	2	0	MAPK8IP3	1756258	0.963000	0.33076	0.896000	0.35187	0.916000	0.54674	2.288000	0.43514	2.387000	0.81309	0.561000	0.74099	CCG	-	NULL		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	protein_coding	OTTHUMT00000250508.2	C	NM_001040439	-		1816257	1	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	SNP	0.928	T	T	1816257	C	T	1816257	3	4	196	1	0	0	0	0	1	0	0	0	9288	652	23	1	2765	1	MAPK8IP3	16	1816257	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	345715	1816257	88538496	1719	14991											
SPSB3	90864	genome.wustl.edu	37	chr16	1831411	1831411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgctagagccacggccCgggcatctgcgtctcggcgg	15	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1831411C>T	ENST00000566339.1	-	2	404	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	NUBP2_ENST00000565134.1_5'Flank|NUBP2_ENST00000543305.1_5'Flank|NUBP2_ENST00000565987.1_5'Flank|NUBP2_ENST00000568706.1_5'Flank|NUBP2_ENST00000262302.9_5'Flank|SPSB3_ENST00000301717.4_Missense_Mutation_p.R25Q	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	25					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGCCACGGCCCGGGCATCTGC	0.632																																																	0								ENSG00000162032						39	38	38					16																	1831411		2198	4300	6498	SPSB3	SO:0001583	missense	0			-	HGNC		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.74G>A	16.37:g.1831411C>T	ENSP00000457206:p.Arg25Gln	Somatic	0	57	0		0.52429534266604	75	34.21	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	60	32.58	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP							pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.R25Q	ENST00000566339.1	37	c.74	CCDS32365.1	16	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499152	0.44455	.	.	ENSG00000162032	ENST00000301717	T	0.48522	0.81	4.18	3.19	0.36642	.	0.000000	0.64402	D	0.000002	T	0.50086	0.1595	M	0.67953	2.075	0.38842	D	0.95607	D;D	0.56746	0.97;0.977	P;B	0.47915	0.561;0.312	T	0.58725	-0.7586	10	0.51188	T	0.08	-35.7182	11.2024	0.48749	0.0:0.9051:0.0:0.0949	.	25;25	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	Q	25	ENSP00000301717:R25Q	ENSP00000301717:R25Q	R	-	2	0	SPSB3	1771412	1.000000	0.71417	0.043000	0.18650	0.401000	0.30781	2.797000	0.47877	2.172000	0.68678	0.462000	0.41574	CGG	-	NULL		0.632	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB3	protein_coding	OTTHUMT00000433512.1	C	NM_080861	-		1831411	-1	no_errors	ENST00000301717	ensembl	human	known	74_37	missense	SNP	0.993	T	T	1831411	C	T	1831411	3	4	196	1	0	0	0	0	1	0	0	0	15121	652	23	1	1017	1	SPSB3	16	1831411	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	15154	1831411	88523342	1720	14992											
SLC9A3R2	9351	genome.wustl.edu	37	chr16	2086401	2086401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcagggctatgggttcaAcctgcatagtgacaagtccc	10	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2086401A>G	ENST00000424542.2	+	3	629	c.491A>G	c.(490-492)aAc>aGc	p.N164S	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.N58S|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.N164S|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.N53S	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	164	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						TATGGGTTCAACCTGCATAGT	0.677																																					Ovarian(69;105 1552 17724 23473)												0								ENSG00000065054						19	25	23					16																	2086401		2068	4213	6281	SLC9A3R2	SO:0001583	missense	0			-	HGNC	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.491A>G	16.37:g.2086401A>G	ENSP00000408005:p.Asn164Ser	Somatic	0	86	0		0.52429534266604	175	12.5	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	147	31.63	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP							pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.N164S	ENST00000424542.2	37	c.491	CCDS45382.1	16	.	.	.	.	.	.	.	.	.	.	a	16.48	3.136513	0.56936	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.24908	1.83;1.83	4.05	4.05	0.47172	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	N	0.13272	0.32	0.54753	D	0.999989	D;D;D	0.76494	0.999;0.981;0.984	D;P;D	0.85130	0.997;0.877;0.954	T	0.10660	-1.0620	10	0.39692	T	0.17	-18.6395	12.3363	0.55069	1.0:0.0:0.0:0.0	.	199;164;164	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	S	164	ENSP00000408005:N164S;ENSP00000402857:N164S	ENSP00000408005:N164S	N	+	2	0	SLC9A3R2	2026402	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.297000	0.65704	1.700000	0.51204	0.255000	0.18592	AAC	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ		0.677	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R2	protein_coding	OTTHUMT00000434448.1	A		-		2086401	1	no_errors	ENST00000424542	ensembl	human	known	74_37	missense	SNP	1.000	G	G	2086401	A	G	2086401	3	3	196	1	0	0	0	0	1	0	0	0	14723	43	2	5	501	5	SLC9A3R2	16	2086401	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	254990	2086401	88268352	1721	14993											
MLST8	64223	genome.wustl.edu	37	chr16	2258589	2258589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggggctgcgccttctcGggggactcccagtacatcgt	14	12	1	0	rs372017388		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2258589G>A	ENST00000569417.1	+	8	1191	c.837G>A	c.(835-837)tcG>tcA	p.S279S	MLST8_ENST00000397124.1_Silent_p.S279S|MLST8_ENST00000301724.10_Silent_p.S279S|MLST8_ENST00000565250.1_Silent_p.S279S|MLST8_ENST00000564088.1_Silent_p.S279S|MLST8_ENST00000382450.4_Silent_p.S278S|MLST8_ENST00000301725.7_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	279					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GCGCCTTCTCGGGGGACTCCC	0.697																																																	0								ENSG00000167965	G	,,,	0,3938		0,0,1969	52	62	59		837,837,834,837	-9.9	0.8	16		59	1,8285		0,1,4142	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MLST8	NM_001199173.1,NM_001199174.1,NM_001199175.1,NM_022372.4	,,,	0,1,6111	AA,AG,GG		0.0121,0.0,0.0082	,,,	279/327,279/327,278/326,279/327	2258589	1,12223	1969	4143	6112	MLST8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.837G>A	16.37:g.2258589G>A		Somatic	0	18	0		0.52429534266604	224	40.27	151	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S279	ENST00000569417.1	37	c.837	CCDS10462.2	16																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.697	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLST8	protein_coding	OTTHUMT00000250763.2	G	NM_022372	-		2258589	1	no_errors	ENST00000397124	ensembl	human	known	74_37	silent	SNP	0.214	A	A	2258589	G	A	2258589	2	1	196	1	0	0	0	0	0	0	0	1	9636	1103	39	1		1	MLST8	16	2258589	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	172188	2258589	88096164	1722	14994											
DNASE1L2	1775	genome.wustl.edu	37	chr16	2287477	2287477	+	Missense_Mutation	SNP	G	G	T													agttctcggcccccggcaccGgtgagcgggccccgcccctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2287477G>T	ENST00000564065.1	+	4	1419	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_Missense_Mutation_p.G140C|DNASE1L2_ENST00000382437.4_Splice_Site_p.A140S|DNASE1L2_ENST00000567494.1_Missense_Mutation_p.G140C			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	140					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						CCCCGGCACCGGTGAGCGGGC	0.711																																																	0								ENSG00000167968						10	12	11					16																	2287477		1795	4032	5827	DNASE1L2	SO:0001583	missense	0			-	HGNC	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.418G>T	16.37:g.2287477G>T	ENSP00000454562:p.Gly140Cys	Somatic	0	12	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	E9PBY4|Q6JVM2|Q6JVM3	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.G140C	ENST00000564065.1	37	c.418	CCDS42105.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.74|12.74	2.028460|2.028460	0.35797|0.35797	.|.	.|.	ENSG00000167968|ENSG00000167968	ENST00000382437|ENST00000541838;ENST00000320700	T|T	0.79554|0.81078	-1.28|-1.45	3.95|3.95	2.99|2.99	0.34606|0.34606	.|Endonuclease/exonuclease/phosphatase (2);	.|.	.|.	.|.	.|.	T|T	0.75722|0.75722	0.3888|0.3888	N|N	0.03608|0.03608	-0.345|-0.345	0.27825|0.27825	N|N	0.941659|0.941659	P|D	0.40970|0.89917	0.734|1.0	B|D	0.36666|0.81914	0.23|0.995	T|T	0.68341|0.68341	-0.5434|-0.5434	9|9	0.08837|0.54805	T|T	0.75|0.06	-1.1372|-1.1372	10.2195|10.2195	0.43188|0.43188	0.0998:0.0:0.9002:0.0|0.0998:0.0:0.9002:0.0	.|.	140|140	Q6JVM2|Q92874	.|DNSL2_HUMAN	S|C	140|140	ENSP00000371874:A140S|ENSP00000316938:G140C	ENSP00000371874:A140S|ENSP00000316938:G140C	A|G	+|+	1|1	0|0	DNASE1L2|DNASE1L2	2227478|2227478	0.991000|0.991000	0.36638|0.36638	0.709000|0.709000	0.30452|0.30452	0.302000|0.302000	0.27658|0.27658	2.150000|2.150000	0.42254|0.42254	0.863000|0.863000	0.35553|0.35553	0.492000|0.492000	0.49549|0.49549	GCA|GGT	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I		0.711	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	DNASE1L2	protein_coding	OTTHUMT00000435236.1	G	NM_001374	-		2287477	1	no_errors	ENST00000320700	ensembl	human	known	74_37	missense	SNP	0.884	T	T	2287477	G	T	2287477	3	4	196	1	0	0	0	0	1	0	0	0	4664	1116	39	3	432	3	DNASE1L2	16	2287477	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	28888	2287477	88067276	1723	14995	334	2									
DNASE1L2	1775	genome.wustl.edu	37	chr16	2287478	2287478	+	Missense_Mutation	SNP	G	G	A													gttctcggcccccggcaccgGtgagcgggccccgcccctcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2287478G>A	ENST00000564065.1	+	4	1420	c.419G>A	c.(418-420)gGt>gAt	p.G140D	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_Missense_Mutation_p.G140D|DNASE1L2_ENST00000382437.4_Splice_Site|DNASE1L2_ENST00000567494.1_Missense_Mutation_p.G140D			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	140					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						CCCGGCACCGGTGAGCGGGCC	0.711																																																	0								ENSG00000167968						10	12	11					16																	2287478		1795	4031	5826	DNASE1L2	SO:0001583	missense	0			-	HGNC	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.419G>A	16.37:g.2287478G>A	ENSP00000454562:p.Gly140Asp	Somatic	0	11	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	E9PBY4|Q6JVM2|Q6JVM3	Splice_Site	SNP							-	e4+1	ENST00000564065.1	37	c.418+1	CCDS42105.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.102|8.102	0.776897|0.776897	0.16120|0.16120	.|.	.|.	ENSG00000167968|ENSG00000167968	ENST00000382437|ENST00000541838;ENST00000320700	.|T	.|0.81078	.|-1.45	3.95|3.95	3.95|3.95	0.45737|0.45737	.|Endonuclease/exonuclease/phosphatase (2);	.|.	.|.	.|.	.|.	.|T	.|0.74053	.|0.3666	N|N	0.03608|0.03608	-0.345|-0.345	0.27483|0.27483	N|N	0.952501|0.952501	.|D	.|0.71674	.|0.998	.|D	.|0.66196	.|0.942	.|T	.|0.64368	.|-0.6424	.|9	.|0.10902	.|T	.|0.67	.|-1.1372	14.7293|14.7293	0.69368|0.69368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|140	.|Q92874	.|DNSL2_HUMAN	.|D	-1|140	.|ENSP00000316938:G140D	.|ENSP00000316938:G140D	.|G	+|+	.|2	.|0	DNASE1L2|DNASE1L2	2227479|2227479	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.323000|0.323000	0.28346|0.28346	5.661000|5.661000	0.68025|0.68025	2.020000|2.020000	0.59435|0.59435	0.492000|0.492000	0.49549|0.49549	.|GGT	-	-		0.711	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	DNASE1L2	protein_coding	OTTHUMT00000435236.1	G	NM_001374	-		2287478	1	no_errors	ENST00000382437	ensembl	human	novel	74_37	splice_site	SNP	0.970	A	A	2287478	G	A	2287478	3	1	196	1	0	0	0	0	1	0	0	0	4664	1261	44	2	433	2	DNASE1L2	16	2287478	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	2287478	88067275	1724	14996	334	2									
ABCA3	21	genome.wustl.edu	37	chr16	2374521	2374521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaagtccttctcggaggGaaagccgcgcactgcaaaga	11	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2374521G>A	ENST00000301732.5	-	6	1031	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	ABCA3_ENST00000567910.1_Missense_Mutation_p.P111S|ABCA3_ENST00000382381.3_Missense_Mutation_p.P111S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	111					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TTCTCGGAGGGAAAGCCGCGC	0.572																																																	0								ENSG00000167972						56	48	51					16																	2374521		2198	4300	6498	ABCA3	SO:0001583	missense	0			-	HGNC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.331C>T	16.37:g.2374521G>A	ENSP00000301732:p.Pro111Ser	Somatic	0	21	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	15.91	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P111S	ENST00000301732.5	37	c.331	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	0.783	-0.761776	0.02996	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.89746	-2.56	5.42	2.36	0.29203	.	0.703959	0.14912	N	0.291151	T	0.75932	0.3917	N	0.21194	0.64	0.25166	N	0.990319	B;B;B;B	0.09022	0.0;0.002;0.002;0.0	B;B;B;B	0.11329	0.006;0.006;0.006;0.004	T	0.57952	-0.7722	10	0.02654	T	1	.	6.6267	0.22833	0.1573:0.0:0.698:0.1447	.	111;173;111;111	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	S	111;173	ENSP00000301732:P111S	ENSP00000301732:P111S	P	-	1	0	ABCA3	2314522	0.990000	0.36364	0.064000	0.19789	0.134000	0.20937	0.899000	0.28417	0.250000	0.21479	0.655000	0.94253	CCC	-	NULL		0.572	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	protein_coding	OTTHUMT00000250784.2	G	NM_001089	-		2374521	-1	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	SNP	0.947	A	A	2374521	G	A	2374521	3	1	196	1	0	0	0	0	1	0	0	0	33	1174	41	2	4895	2	ABCA3	16	2374521	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	87043	2374521	87980232	1725	14997											
CCNF	899	genome.wustl.edu	37	chr16	2506847	2506847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctacctcagtgctgtcCctggacagtgactcgcacac	8	16	1	1	rs566297845		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2506847C>T	ENST00000397066.4	+	17	2275	c.2187C>T	c.(2185-2187)tcC>tcT	p.S729S	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	729	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CAGTGCTGTCCCTGGACAGTG	0.632													C|||	1	0.000199681	0	0	5008	,	,		19092	0.001		0	False		,,,				2504	0																0								ENSG00000162063						96	81	86					16																	2506847		2198	4300	6498	CCNF	SO:0001819	synonymous_variant	0			-	HGNC	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2187C>T	16.37:g.2506847C>T		Somatic	0	36	0		0.52429534266604	16	40.74	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	B2R8H3|Q96EG9	Silent	SNP							pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.S729	ENST00000397066.4	37	c.2187	CCDS10467.1	16																																																																																			-	NULL		0.632	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	protein_coding	OTTHUMT00000250801.1	C	NM_001761	-		2506847	1	no_errors	ENST00000397066	ensembl	human	known	74_37	silent	SNP	0.027	T	T	2506847	C	T	2506847	2	4	196	1	0	0	0	0	0	0	0	1	2924	610	22	2		2	CCNF	16	2506847	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	132326	2506847	87847906	1726	14998											
SRRM2	23524	genome.wustl.edu	37	chr16	2806482	2806482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgactacaagggagaGgaggaactgcggcgcctgga	17	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2806482G>A	ENST00000301740.8	+	2	666	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	39					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)			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						ACAAGGGAGAGGAGGAACTGC	0.711																																																	0								ENSG00000167978						29	31	30					16																	2806482		2198	4298	6496	SRRM2	SO:0001819	synonymous_variant	0			-	HGNC	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	ENST00000301740.8:c.117G>A	16.37:g.2806482G>A		Somatic	0	142	0		0.52429534266604	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	84	169	33.20	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP							pfam_mRNA_splic_Cwf21	p.E39	ENST00000301740.8	37	c.117	CCDS32373.1	16																																																																																			-	NULL		0.711	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	G		-		2806482	1	no_errors	ENST00000301740	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2806482	G	A	2806482	2	1	196	1	0	0	0	0	0	0	0	1	15176	991	35	2		2	SRRM2	16	2806482	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	299635	2806482	87548271	1727	14999											
SRRM2	23524	genome.wustl.edu	37	chr16	2817350	2817350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgaacttggccagccccaGaacagcggtggcaccttcgg	12	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2817350G>A	ENST00000301740.8	+	11	7370	c.6821G>A	c.(6820-6822)aGa>aAa	p.R2274K	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2274	Ala-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)			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						GCCAGCCCCAGAACAGCGGTG	0.637																																																	0								ENSG00000167978						85	89	87					16																	2817350		2198	4300	6498	SRRM2	SO:0001583	missense	0			-	HGNC	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	ENST00000301740.8:c.6821G>A	16.37:g.2817350G>A	ENSP00000301740:p.Arg2274Lys	Somatic	0	32	0		0.52429534266604	148	33.03	73	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP							pfam_mRNA_splic_Cwf21	p.R2274K	ENST00000301740.8	37	c.6821	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084124	0.55861	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.81470	0.4829	L	0.34521	1.04	0.32224	N	0.574861	P	0.52842	0.956	D	0.65010	0.931	T	0.83003	-0.0176	10	0.44086	T	0.13	-13.3508	15.4828	0.75542	0.0:0.0:1.0:0.0	.	2274	Q9UQ35	SRRM2_HUMAN	K	2274;1526	ENSP00000301740:R2274K	ENSP00000301740:R2274K	R	+	2	0	SRRM2	2757351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.728000	0.93425	0.655000	0.94253	AGA	-	NULL		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	G		-		2817350	1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2817350	G	A	2817350	3	1	196	1	0	0	0	0	1	0	0	0	15176	942	33	2	6859	2	SRRM2	16	2817350	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	10868	2817350	87537403	1728	15000											
TCEB2	6923	genome.wustl.edu	37	chr16	2825483	2825483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccccactgtggctggGgcctgtggccgtgctgtttg	16	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2825483G>A	ENST00000409906.4	-	3	270	c.213C>T	c.(211-213)gcC>gcT	p.A71A	TCEB2_ENST00000409477.1_Silent_p.A66A|TCEB2_ENST00000262306.7_Silent_p.A71A|TCEB2_ENST00000572954.1_Intron	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						CTGTGGCTGGGGCCTGTGGCC	0.602																																					GBM(141;5215 5962)												0								ENSG00000103363						38	41	40					16																	2825483		2198	4300	6498	TCEB2	SO:0001819	synonymous_variant	0			-	HGNC	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.213C>T	16.37:g.2825483G>A		Somatic	0	48	0		0.52429534266604	2757	16.71	556	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.33	B7WPD3	Silent	SNP							pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.A71	ENST00000409906.4	37	c.213	CCDS45387.1	16																																																																																			-	smart_Ubiquitin_dom		0.602	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB2	protein_coding	OTTHUMT00000333975.2	G	NM_007108	-		2825483	-1	no_errors	ENST00000262306	ensembl	human	known	74_37	silent	SNP	0.996	A	A	2825483	G	A	2825483	2	1	196	1	0	0	0	0	0	0	0	1	15687	1219	43	2		2	TCEB2	16	2825483	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8133	2825483	87529270	1729	15001											
IL32	9235	genome.wustl.edu	37	chr16	3118197	3118197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacgacttcaaagaggGctacctggagacagtggcgg	15	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3118197G>A	ENST00000534507.1	+	5	507	c.296G>A	c.(295-297)gGc>gAc	p.G99D	IL32_ENST00000549213.1_Missense_Mutation_p.G53D|IL32_ENST00000396890.2_Missense_Mutation_p.G99D|IL32_ENST00000008180.9_Missense_Mutation_p.G33D|IL32_ENST00000548246.1_Intron|IL32_ENST00000531965.1_Missense_Mutation_p.G43D|IL32_ENST00000382213.3_Missense_Mutation_p.G44D|IL32_ENST00000552356.1_Missense_Mutation_p.G33D|IL32_ENST00000528163.2_Missense_Mutation_p.G53D|IL32_ENST00000552664.1_Missense_Mutation_p.G53D|IL32_ENST00000440815.3_Missense_Mutation_p.G53D|IL32_ENST00000444393.3_Missense_Mutation_p.G53D|IL32_ENST00000530890.1_Missense_Mutation_p.G33D|IL32_ENST00000548652.1_Missense_Mutation_p.G44D|IL32_ENST00000552936.1_Missense_Mutation_p.G77D|IL32_ENST00000551513.1_Missense_Mutation_p.G90D|IL32_ENST00000396887.3_Missense_Mutation_p.G53D|IL32_ENST00000525643.2_Missense_Mutation_p.G53D|IL32_ENST00000548476.1_Missense_Mutation_p.G99D|IL32_ENST00000551122.1_Missense_Mutation_p.G53D|IL32_ENST00000529699.1_Intron|IL32_ENST00000530538.2_Missense_Mutation_p.G53D|IL32_ENST00000526464.2_Missense_Mutation_p.G53D|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000533097.2_Missense_Mutation_p.G53D|IL32_ENST00000325568.5_Missense_Mutation_p.G53D|IL32_ENST00000529550.1_Missense_Mutation_p.G53D			P24001	IL32_HUMAN	interleukin 32	99					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TTCAAAGAGGGCTACCTGGAG	0.602																																																	0								ENSG00000008517						83	62	69					16																	3118197		2196	4300	6496	IL32	SO:0001583	missense	0			-	HGNC	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"Interleukins and interleukin receptors"	16830	protein-coding gene	gene with protein product	"natural killer cell transcript 4"	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.296G>A	16.37:g.3118197G>A	ENSP00000431775:p.Gly99Asp	Somatic	0	30	0		0.52429534266604	1348	25.52	463	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP							NULL	p.G99D	ENST00000534507.1	37	c.296		16	.	.	.	.	.	.	.	.	.	.	G	3.606	-0.080552	0.07141	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000525377;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.67;0.31;0.29;0.27;-0.67;-0.67;-0.67;0.27;-0.67;0.31;-0.67;0.3;-0.67;-0.67;0.3;0.31;-0.68;-0.68;0.31;-0.67;0.27;0.31;0.31;-0.67;0.3;0.31;-0.68	1.9	-3.8	0.04307	.	.	.	.	.	T	0.36166	0.0957	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.002	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.004	T	0.19484	-1.0304	9	0.02654	T	1	.	1.3261	0.02126	0.1601:0.3658:0.2284:0.2457	.	44;33;99;53;53	A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;IL32_HUMAN;.;.	D	53;99;43;53;53;53;53;53;53;99;53;33;53;53;33;99;24;44;99;53;53;77;99;53;33;90;44	ENSP00000324742:G53D;ENSP00000431775:G99D;ENSP00000433177:G43D;ENSP00000380096:G53D;ENSP00000450364:G53D;ENSP00000405063:G53D;ENSP00000437020:G53D;ENSP00000447496:G53D;ENSP00000432218:G53D;ENSP00000448354:G99D;ENSP00000432850:G53D;ENSP00000433747:G33D;ENSP00000411958:G53D;ENSP00000432917:G53D;ENSP00000008180:G33D;ENSP00000380099:G99D;ENSP00000431740:G24D;ENSP00000446624:G44D;ENSP00000433866:G99D;ENSP00000436929:G53D;ENSP00000447812:G53D;ENSP00000447033:G77D;ENSP00000449483:G99D;ENSP00000448683:G53D;ENSP00000446978:G33D;ENSP00000449147:G90D;ENSP00000371648:G44D	ENSP00000008180:G33D	G	+	2	0	IL32	3058198	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.799000	0.01746	-3.768000	0.00109	-0.329000	0.08387	GGC	-	NULL		0.602	IL32-002	KNOWN	basic	protein_coding	IL32	protein_coding	OTTHUMT00000394812.2	G	NM_004221	-		3118197	1	no_errors	ENST00000396890	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3118197	G	A	3118197	3	1	196	1	0	0	0	0	1	0	0	0	7694	1203	42	2	176	2	IL32	16	3118197	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	292714	3118197	87236556	1730	15002											
MEFV	4210	genome.wustl.edu	37	chr16	3294266	3294266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactcaccattgaacatttCcatttctgaacgcagggttt	8	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3294266C>T	ENST00000219596.1	-	8	1786	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	MEFV_ENST00000339854.4_Missense_Mutation_p.E403K|MEFV_ENST00000536379.1_Missense_Mutation_p.E372K|MEFV_ENST00000541159.1_Missense_Mutation_p.E372K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	583	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						TTGAACATTTCCATTTCTGAA	0.517																																																	0								ENSG00000103313						92	72	79					16																	3294266		2197	4300	6497	MEFV	SO:0001583	missense	0			-	HGNC	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.1747G>A	16.37:g.3294266C>T	ENSP00000219596:p.Glu583Lys	Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	46	42.50	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP							pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.E583K	ENST00000219596.1	37	c.1747	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119959	0.20877	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64260	-0.09;0.34;0.11;0.33	5.76	3.82	0.43975	B30.2/SPRY domain (1);	0.146313	0.31660	N	0.007262	T	0.39835	0.1093	N	0.21097	0.63	0.22911	N	0.998575	P	0.43169	0.8	B	0.34180	0.177	T	0.25641	-1.0126	10	0.33940	T	0.23	-11.9148	7.8944	0.29697	0.0:0.8194:0.0:0.1806	.	583	O15553	MEFV_HUMAN	K	583;583;403;372;372;372	ENSP00000219596:E583K;ENSP00000339639:E403K;ENSP00000438711:E372K;ENSP00000445079:E372K	ENSP00000219596:E583K	E	-	1	0	MEFV	3234267	0.926000	0.31397	0.988000	0.46212	0.195000	0.23768	0.870000	0.28010	1.450000	0.47717	-0.251000	0.11542	GAA	-	pfscan_B30.2/SPRY		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	C	NM_000243	-		3294266	-1	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	SNP	0.991	T	T	3294266	C	T	3294266	3	4	196	1	0	0	0	0	1	0	0	0	9461	864	30	2	610	2	MEFV	16	3294266	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	176069	3294266	87060487	1731	15003											
ZNF174	7727	genome.wustl.edu	37	chr16	3458440	3458440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtctgcagaatcctgaaCcaagaggggcaaatatgagt	12	7	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3458440C>T	ENST00000268655.4	+	3	1330	c.745C>T	c.(745-747)Cca>Tca	p.P249S	ZNF174_ENST00000571936.1_Missense_Mutation_p.P249S	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	249					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GAATCCTGAACCAAGAGGGGC	0.507																																																	0								ENSG00000103343						94	85	88					16																	3458440		2197	4300	6497	ZNF174	SO:0001583	missense	0			-	HGNC	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.745C>T	16.37:g.3458440C>T	ENSP00000268655:p.Pro249Ser	Somatic	0	77	0		0.52429534266604	7	50	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	66	38.89	Q53Y68|Q9BQ34	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P249S	ENST00000268655.4	37	c.745	CCDS10504.1	16	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272280	0.01421	.	.	ENSG00000103343	ENST00000268655	T	0.07444	3.19	4.65	0.419	0.16438	.	0.588991	0.15460	N	0.261173	T	0.03477	0.0100	N	0.19112	0.55	0.09310	N	0.999997	B	0.10296	0.003	B	0.08055	0.003	T	0.43988	-0.9357	10	0.07482	T	0.82	.	1.7846	0.03039	0.1559:0.366:0.3037:0.1744	.	249	Q15697	ZN174_HUMAN	S	249	ENSP00000268655:P249S	ENSP00000268655:P249S	P	+	1	0	ZNF174	3398441	0.000000	0.05858	0.001000	0.08648	0.389000	0.30415	-0.732000	0.04904	0.124000	0.18369	0.557000	0.71058	CCA	-	NULL		0.507	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	protein_coding	OTTHUMT00000251510.1	C	NM_003450	-		3458440	1	no_errors	ENST00000268655	ensembl	human	known	74_37	missense	SNP	0.000	T	T	3458440	C	T	3458440	3	4	196	1	0	0	0	0	1	0	0	0	17751	507	18	2	839	2	ZNF174	16	3458440	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	164174	3458440	86896313	1732	15004											
NAT15	79903	genome.wustl.edu	37	chr16	3526270	3526270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgctcagcgaggtcagcCtgcgcctcctctgccacgat	12	17	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3526270C>T	ENST00000407558.4	+	3	346	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	NAA60_ENST00000421765.3_Silent_p.L15L|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000573580.1_Intron|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000608993.1_Intron|NAA60_ENST00000572942.1_Silent_p.L15L|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000610180.1_Silent_p.L15L|NAA60_ENST00000577013.1_Silent_p.L15L|NAA60_ENST00000575076.1_Silent_p.L15L|NAA60_ENST00000576916.1_Silent_p.L15L|NAA60_ENST00000414063.2_Silent_p.L15L|NAA60_ENST00000570819.1_Silent_p.L15L|NAA60_ENST00000572584.1_Silent_p.L15L|NAA60_ENST00000608722.1_Silent_p.L15L|NAA60_ENST00000360862.5_Intron			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	15	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CGAGGTCAGCCTGCGCCTCCT	0.617																																																	0								ENSG00000122390						57	61	60					16																	3526270		2196	4294	6490	NAA60	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.43C>T	16.37:g.3526270C>T		Somatic	0	29	0		0.52429534266604	28	26.32	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Silent	SNP							pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L15	ENST00000407558.4	37	c.43	CCDS45396.1	16																																																																																			-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.617	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	protein_coding	OTTHUMT00000317235.2	C	NM_024845	-		3526270	1	no_errors	ENST00000407558	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3526270	C	T	3526270	2	4	196	1	0	0	0	0	0	0	0	1	10178	680	24	2		2	NAT15	16	3526270	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	67830	3526270	86828483	1733	15005											
BTBD12	84464	genome.wustl.edu	37	chr16	3641302	3641302	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaggtgaacgagctcactCacgccaaacctgcaacacga	8	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3641302C>A	ENST00000294008.3	-	12	2977	c.2337G>T	c.(2335-2337)gtG>gtT	p.V779V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	779	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGAGCTCACTCACGCCAAACC	0.597								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																					0								ENSG00000188827						67	65	66					16																	3641302		2197	4300	6497	SLX4	SO:0001819	synonymous_variant	0			-	HGNC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2337G>T	16.37:g.3641302C>A		Somatic	0	25	0	612	0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	12	57.14	Q69YT8|Q8TF15|Q96JP1	Silent	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V779	ENST00000294008.3	37	c.2337	CCDS10506.2	16																																																																																			-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	protein_coding	OTTHUMT00000157301.3	C	NM_032444	-		3641302	-1	no_errors	ENST00000294008	ensembl	human	known	74_37	silent	SNP	0.161	A	A	3641302	C	A	3641302	2	1	196	1	0	0	0	0	0	0	0	1	1542	813	29	3		3	BTBD12	16	3641302	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	115032	3641302	86713451	1734	15006											
CREBBP	1387	genome.wustl.edu	37	chr16	3832702	3832702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccagggggttgagagtcCtcatctgctggtgggtttga	15	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3832702C>T	ENST00000262367.5	-	6	2365	c.1556G>A	c.(1555-1557)aGg>aAg	p.R519K	CREBBP_ENST00000382070.3_Missense_Mutation_p.R481K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	519					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGAGAGTCCTCATCTGCTG	0.562			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0								ENSG00000005339						102	94	97					16																	3832702		2197	4300	6497	CREBBP	SO:0001583	missense	0			-	HGNC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1556G>A	16.37:g.3832702C>T	ENSP00000262367:p.Arg519Lys	Somatic	0	64	0		0.52429534266604	7	30	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	59	35.87	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R519K	ENST00000262367.5	37	c.1556	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213736	0.58452	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83914	-1.76;-1.78	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	M	0.72894	2.215	0.54753	D	0.999986	P;P	0.50066	0.931;0.918	P;P	0.54060	0.741;0.626	D	0.86749	0.1959	10	0.39692	T	0.17	-25.5575	20.4777	0.99188	0.0:1.0:0.0:0.0	.	549;519	Q4LE28;Q92793	.;CBP_HUMAN	K	519;549;481	ENSP00000262367:R519K;ENSP00000371502:R481K	ENSP00000262367:R519K	R	-	2	0	CREBBP	3772703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.579000	0.67457	2.840000	0.97914	0.655000	0.94253	AGG	-	NULL		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	C	NM_004380	-		3832702	-1	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3832702	C	T	3832702	3	4	196	1	0	0	0	0	1	0	0	0	3863	681	24	2	5876	2	CREBBP	16	3832702	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	191400	3832702	86522051	1735	15007											
TFAP4	7023	genome.wustl.edu	37	chr16	4322729	4322729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggcaccttctgagtggGcaccatgaaatactccatag	11	10	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4322729G>A	ENST00000204517.6	-	1	347	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	7					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TTCTGAGTGGGCACCATGAAA	0.552																																																	0								ENSG00000090447						100	91	94					16																	4322729		2197	4300	6497	TFAP4	SO:0001583	missense	0			-	HGNC	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.19C>T	16.37:g.4322729G>A	ENSP00000204517:p.Pro7Ser	Somatic	0	98	0		0.52429534266604	33	34	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	122	28.65	O60409	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P7S	ENST00000204517.6	37	c.19	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591323	0.46214	.	.	ENSG00000090447	ENST00000204517	D	0.98968	-5.28	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	N	0.08118	0	0.54753	D	0.999986	D	0.57571	0.98	D	0.70227	0.968	D	0.99882	1.1114	10	0.72032	D	0.01	.	15.9595	0.79918	0.0:0.0:1.0:0.0	.	7	Q01664	TFAP4_HUMAN	S	7	ENSP00000204517:P7S	ENSP00000204517:P7S	P	-	1	0	TFAP4	4262730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.264000	0.65513	2.048000	0.60808	0.462000	0.41574	CCC	-	NULL		0.552	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	protein_coding	OTTHUMT00000251595.2	G	NM_003223	-		4322729	-1	no_errors	ENST00000204517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4322729	G	A	4322729	3	1	196	1	0	0	0	0	1	0	0	0	15799	1203	42	2	1025	2	TFAP4	16	4322729	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	490027	4322729	86032024	1736	15008											
CORO7	79585	genome.wustl.edu	37	chr16	4458230	4458230	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagtcatcaaagggcgaGaagtccaagtcggtgactag	14	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4458230G>A	ENST00000251166.4	-	4	400	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.F85F|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	85					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CAAAGGGCGAGAAGTCCAAGT	0.582																																																	0								ENSG00000103426						158	135	143					16																	4458230		2197	4300	6497	CORO7-PAM16	SO:0001819	synonymous_variant	0			-	HGNC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.255C>T	16.37:g.4458230G>A		Somatic	0	83	0		0.52429534266604	25	16.13	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	93	32.37	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP							pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F85	ENST00000251166.4	37	c.255	CCDS10513.1	16																																																																																			-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.582	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	protein_coding	OTTHUMT00000251628.2	G	NM_024535	-		4458230	-1	no_errors	ENST00000572467	ensembl	human	known	74_37	silent	SNP	1.000	A	A	4458230	G	A	4458230	2	1	196	1	0	0	0	0	0	0	0	1	3761	933	33	2		2	CORO7	16	4458230	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	135501	4458230	85896523	1737	15009											
HMOX2	3163	genome.wustl.edu	37	chr16	4559476	4559476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccttggaggatgggttcCctgtacacgatgggaaagga	15	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4559476C>T	ENST00000570646.1	+	5	1365	c.760C>T	c.(760-762)Cct>Tct	p.P254S	HMOX2_ENST00000414777.1_Missense_Mutation_p.P254S|HMOX2_ENST00000575120.1_Missense_Mutation_p.P225S|HMOX2_ENST00000406590.2_Missense_Mutation_p.P254S|HMOX2_ENST00000458134.3_Missense_Mutation_p.P254S|HMOX2_ENST00000398595.3_Missense_Mutation_p.P254S|HMOX2_ENST00000219700.6_Missense_Mutation_p.P254S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	254					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GGATGGGTTCCCTGTACACGA	0.557																																																	0								ENSG00000103415						210	197	201					16																	4559476		2197	4300	6497	HMOX2	SO:0001583	missense	0			-	HGNC		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.760C>T	16.37:g.4559476C>T	ENSP00000459214:p.Pro254Ser	Somatic	0	33	0		0.52429534266604	375	29.78	159	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP							pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.P254S	ENST00000570646.1	37	c.760	CCDS10517.1	16	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497789	0.26861	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.18	4.21	0.49690	Haem oxygenase-like, multi-helical (1);	0.187319	0.64402	D	0.000018	T	0.18467	0.0443	L	0.39147	1.195	0.54753	D	0.999983	B;B	0.24721	0.11;0.11	B;B	0.24541	0.054;0.054	T	0.02958	-1.1089	10	0.42905	T	0.14	-16.9705	12.9428	0.58354	0.0:0.9192:0.0:0.0808	.	254;254	B3KSE0;P30519	.;HMOX2_HUMAN	S	254	ENSP00000385100:P254S;ENSP00000394103:P254S;ENSP00000219700:P254S;ENSP00000391637:P254S;ENSP00000381595:P254S	ENSP00000219700:P254S	P	+	1	0	HMOX2	4499477	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	3.093000	0.50217	2.700000	0.92200	0.462000	0.41574	CCT	-	superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase		0.557	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX2	protein_coding	OTTHUMT00000251636.2	C		-		4559476	1	no_errors	ENST00000219700	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4559476	C	T	4559476	3	4	196	1	0	0	0	0	1	0	0	0	7246	623	22	2	774	2	HMOX2	16	4559476	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	101246	4559476	85795277	1738	15010											
C16orf71	146562	genome.wustl.edu	37	chr16	4797014	4797014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagggggcatctccttcctCcctggggctacggtaaccac	12	14	1	1	rs527716465		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4797014C>T	ENST00000299320.5	+	8	1746	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.S440F	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	423										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTCCTTCCTCCCTGGGGCTA	0.622													C|||	1	0.000199681	0	0	5008	,	,		19672	0.001		0	False		,,,				2504	0																0								ENSG00000166246						29	26	27					16																	4797014		2187	4295	6482	C16orf71	SO:0001583	missense	0			-	HGNC	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1268C>T	16.37:g.4797014C>T	ENSP00000299320:p.Ser423Phe	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	61	30.68	Q8NCV0	Missense_Mutation	SNP							NULL	p.S423F	ENST00000299320.5	37	c.1268	CCDS10521.1	16	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361098	0.41801	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.37915	1.17	3.41	3.41	0.39046	.	0.817334	0.10229	N	0.699985	T	0.46521	0.1397	L	0.40543	1.245	0.09310	N	0.999999	D	0.69078	0.997	D	0.64237	0.923	T	0.27054	-1.0085	10	0.29301	T	0.29	-0.3094	11.0212	0.47720	0.0:1.0:0.0:0.0	.	423	Q8IYS4	CP071_HUMAN	F	423;178	ENSP00000299320:S423F	ENSP00000299320:S423F	S	+	2	0	C16orf71	4737015	0.000000	0.05858	0.010000	0.14722	0.111000	0.19643	0.286000	0.18902	1.818000	0.53035	0.561000	0.74099	TCC	-	NULL		0.622	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf71	protein_coding	OTTHUMT00000251644.1	C	NM_139170	-		4797014	1	no_errors	ENST00000299320	ensembl	human	known	74_37	missense	SNP	0.101	T	T	4797014	C	T	4797014	3	4	196	1	0	0	0	0	1	0	0	0	1832	855	30	2	1294	2	C16orf71	16	4797014	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	237538	4797014	85557739	1739	15011											
A2BP1	54715	genome.wustl.edu	37	chr16	7568218	7568218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcggcccagtttgctcccCcgcagaacggtatccccgcg	10	18	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:7568218C>T	ENST00000550418.1	+	5	1085	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S	RBFOX1_ENST00000422070.4_Missense_Mutation_p.P76S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P76S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P33S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P53S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P53S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P69S|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P38S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P53S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P69S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P33S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	33					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTTTGCTCCCCCGCAGAACGG	0.587																																					Ovarian(157;934 2567 15163 39509)												0								ENSG00000078328						128	129	128					16																	7568218		2197	4300	6497	RBFOX1	SO:0001583	missense	0			-	HGNC	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.97C>T	16.37:g.7568218C>T	ENSP00000450031:p.Pro33Ser	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	43	36.76	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP							pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.P76S	ENST00000550418.1	37	c.226	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444764	0.83993	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.39229	1.6;1.15;1.56;1.41;1.34;1.52;1.15;1.2;1.35;1.27;1.09	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.70275	2.135	0.58432	D	0.999999	P;D;D;D;P;D;P;P;P	0.61697	0.494;0.986;0.983;0.99;0.939;0.981;0.828;0.899;0.931	B;P;P;P;P;P;P;P;P	0.59171	0.1;0.73;0.718;0.853;0.721;0.715;0.612;0.607;0.833	T	0.62709	-0.6797	10	0.66056	D	0.02	-6.1649	13.026	0.58814	0.1612:0.8388:0.0:0.0	.	53;69;76;53;53;53;33;33;76	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	S	33;33;33;76;76;69;69;33;33;53;53;53;53;38	ENSP00000450402:P33S;ENSP00000450031:P33S;ENSP00000447753:P33S;ENSP00000446842:P76S;ENSP00000391269:P76S;ENSP00000447281:P33S;ENSP00000447717:P33S;ENSP00000402745:P53S;ENSP00000309117:P53S;ENSP00000347855:P53S;ENSP00000344196:P38S	ENSP00000309117:P53S	P	+	1	0	RBFOX1	7508219	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.200000	0.65158	2.222000	0.72286	0.557000	0.71058	CCG	-	pirsf_RNA-bd_Fox-1		0.587	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	protein_coding	OTTHUMT00000409492.2	C	NM_145891	-		7568218	1	no_errors	ENST00000547372	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7568218	C	T	7568218	3	4	196	1	0	0	0	0	1	0	0	0	3	623	22	2	194	2	A2BP1	16	7568218	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2771204	7568218	82786535	1740	15012											
CLEC16A	23274	genome.wustl.edu	37	chr16	11133720	11133720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcaggatcatgaacaaCgctgcccagccaggtgccca	9	15	3	1	rs200579398		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:11133720C>A	ENST00000409790.1	+	14	1877	c.1647C>A	c.(1645-1647)aaC>aaA	p.N549K	CLEC16A_ENST00000409552.3_Missense_Mutation_p.N531K|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATGAACAACGCTGCCCAGC	0.587																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000038532						48	51	50					16																	11133720		2064	4200	6264	CLEC16A	SO:0001583	missense	0			-	HGNC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1647C>A	16.37:g.11133720C>A	ENSP00000387122:p.Asn549Lys	Somatic	0	44	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	57	26.92		Missense_Mutation	SNP							pfam_Uncharacterised_FPL	p.N549K	ENST00000409790.1	37	c.1647	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	4.161	0.028423	0.08054	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.39592	1.07	5.29	-4.59	0.03400	.	0.396495	0.31427	N	0.007680	T	0.13030	0.0316	N	0.02539	-0.55	0.80722	D	1	B;B	0.17465	0.005;0.022	B;B	0.17433	0.009;0.018	T	0.15607	-1.0431	10	0.14656	T	0.56	-24.0164	9.3097	0.37895	0.1197:0.1409:0.0:0.7393	.	549;531	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	K	549;549;531	ENSP00000387122:N549K	ENSP00000386495:N531K	N	+	3	2	CLEC16A	11041221	0.140000	0.22579	0.968000	0.41197	0.995000	0.86356	-1.042000	0.03539	-0.644000	0.05465	-0.137000	0.14449	AAC	-	NULL		0.587	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	protein_coding	OTTHUMT00000328540.2	C	NM_015226	-		11133720	1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	SNP	0.790	A	A	11133720	C	A	11133720	3	1	196	1	0	0	0	0	1	0	0	0	3502	535	19	3	1697	3	CLEC16A	16	11133720	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3565502	11133720	79221033	1741	15013											
CLEC16A	23274	genome.wustl.edu	37	chr16	11272360	11272360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccggcagcccaccatttCcctgctctgcgaggacacgg	11	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:11272360C>T	ENST00000409790.1	+	24	3205	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	CLEC16A_ENST00000381822.2_Missense_Mutation_p.S79F	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCACCATTTCCCTGCTCTGC	0.672																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000038532						58	69	65					16																	11272360		2156	4248	6404	CLEC16A	SO:0001583	missense	0			-	HGNC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2975C>T	16.37:g.11272360C>T	ENSP00000387122:p.Ser992Phe	Somatic	0	58	0		0.52429534266604	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	46	29.23		Missense_Mutation	SNP							pfam_Uncharacterised_FPL	p.S992F	ENST00000409790.1	37	c.2975	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237763	0.79800	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.57907	0.37	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	L	0.27053	0.805	0.42787	D	0.993888	D;D	0.76494	0.999;0.99	D;D	0.83275	0.996;0.974	T	0.66131	-0.6000	10	0.87932	D	0	-21.4982	15.032	0.71713	0.0:1.0:0.0:0.0	.	79;992	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	F	992;992;79	ENSP00000387122:S992F	ENSP00000371244:S79F	S	+	2	0	CLEC16A	11179861	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.480000	0.66820	2.304000	0.77564	0.655000	0.94253	TCC	-	NULL		0.672	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	protein_coding	OTTHUMT00000328540.2	C	NM_015226	-		11272360	1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11272360	C	T	11272360	3	4	196	1	0	0	0	0	1	0	0	0	3502	855	30	2	3065	2	CLEC16A	16	11272360	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	138640	11272360	79082393	1742	15014											
TNP2	7142	genome.wustl.edu	37	chr16	11362868	11362868	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagtggtgggagttcatagtCtttttgtggcgctttggtgg	17	4	2	0	rs377306474		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:11362868C>T	ENST00000312693.3	-	1	321	c.252G>A	c.(250-252)aaG>aaA	p.K84K	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	84					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGTTCATAGTCTTTTTGTGGC	0.567																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000178279						134	142	140					16																	11362868		2079	4208	6287	TNP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.252G>A	16.37:g.11362868C>T		Somatic	0	101	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	99	32.65	Q9NZB0	Silent	SNP							pfam_TP2	p.K84	ENST00000312693.3	37	c.252	CCDS45410.1	16																																																																																			-	pfam_TP2		0.567	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNP2	protein_coding	OTTHUMT00000417806.1	C	NM_005425	-		11362868	-1	no_errors	ENST00000312693	ensembl	human	known	74_37	silent	SNP	0.000	T	T	11362868	C	T	11362868	2	4	196	1	0	0	0	0	0	0	0	1	16341	912	32	2		2	TNP2	16	11362868	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	90508	11362868	78991885	1743	15015											
PARN	5073	genome.wustl.edu	37	chr16	14702154	14702154	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttacttccagctcaaagtctGataaattagttttctttgga	6	7	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:14702154G>A	ENST00000437198.2	-	9	784	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	PARN_ENST00000341484.7_Nonsense_Mutation_p.Q154*|PARN_ENST00000420015.2_Nonsense_Mutation_p.Q169*|PARN_ENST00000539279.1_Intron|PARN_ENST00000566021.1_5'Flank	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	215	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CTCAAAGTCTGATAAATTAGT	0.333																																																	0								ENSG00000140694						26	24	25					16																	14702154		1322	2919	4241	PARN	SO:0001587	stop_gained	0			-	HGNC	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.643C>T	16.37:g.14702154G>A	ENSP00000387911:p.Gln215*	Somatic	0	112	0		0.52429534266604	15	16.67	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	93	32.61	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Nonsense_Mutation	SNP							pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.Q215*	ENST00000437198.2	37	c.643	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.988701	0.97983	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	.	.	.	5.56	5.56	0.83823	.	0.060740	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.3051	18.8713	0.92315	0.0:0.0:1.0:0.0	.	.	.	.	X	215;154;169;198	.	ENSP00000345456:Q154X	Q	-	1	0	PARN	14609655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.777000	0.95525	0.655000	0.94253	CAG	-	pfam_RNase_CAF1,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd		0.333	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	protein_coding	OTTHUMT00000422383.1	G	NM_002582	-		14702154	-1	no_errors	ENST00000437198	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	14702154	G	A	14702154	4	1	196	1	0	0	0	0	0	1	0	0	11455	1299	45	2	1340	2	PARN	16	14702154	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3339286	14702154	75652599	1744	15016											
XYLT1	64131	genome.wustl.edu	37	chr16	17211525	17211525	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttgatgggctgcctgttCgagaaggtcagaggcgcaac	16	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:17211525C>T	ENST00000261381.6	-	11	2619	c.2535G>A	c.(2533-2535)tcG>tcA	p.S845S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	845					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGCCTGTTCGAGAAGGTCA	0.547																																																	0								ENSG00000103489						59	55	56					16																	17211525		2197	4300	6497	XYLT1	SO:0001819	synonymous_variant	0			-	HGNC	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2535G>A	16.37:g.17211525C>T		Somatic	0	59	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	57	22.97	Q9H1B6	Silent	SNP							pfam_XylT,pfam_Glyco_trans_14	p.S845	ENST00000261381.6	37	c.2535	CCDS10569.1	16																																																																																			-	NULL		0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	protein_coding	OTTHUMT00000252241.2	C	NM_022166	-		17211525	-1	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	SNP	0.773	T	T	17211525	C	T	17211525	2	4	196	1	0	0	0	0	0	0	0	1	17470	871	31	1		1	XYLT1	16	17211525	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2509371	17211525	73143228	1745	15017											
TMC7	79905	genome.wustl.edu	37	chr16	19049227	19049227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaagaatgcggcagaAaatagcagaaaggacctcag	13	6	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:19049227A>C	ENST00000304381.5	+	8	1167	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	TMC7_ENST00000569532.1_Missense_Mutation_p.K346T|TMC7_ENST00000421369.3_Missense_Mutation_p.K236T|TMC7_ENST00000561963.1_3'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	346					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATGCGGCAGAAAATAGCAGAA	0.398																																																	0								ENSG00000170537						154	137	143					16																	19049227		2197	4300	6497	TMC7	SO:0001583	missense	0			-	HGNC	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1037A>C	16.37:g.19049227A>C	ENSP00000304710:p.Lys346Thr	Somatic	0	55	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	56	24.32	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP							pfam_TMC	p.K346T	ENST00000304381.5	37	c.1037	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076858	0.76415	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.55234	0.53;0.53	5.5	5.5	0.81552	.	0.052090	0.85682	D	0.000000	T	0.60301	0.2258	M	0.74647	2.275	0.42139	D	0.991509	P;B	0.39831	0.69;0.389	P;B	0.47075	0.536;0.317	T	0.65109	-0.6248	10	0.59425	D	0.04	.	9.4809	0.38900	0.921:0.0:0.079:0.0	.	346;346	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	346;236	ENSP00000304710:K346T;ENSP00000397081:K236T	ENSP00000304710:K346T	K	+	2	0	TMC7	18956728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.678000	0.61641	2.094000	0.63399	0.528000	0.53228	AAA	-	NULL		0.398	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	protein_coding	OTTHUMT00000254276.3	A	NM_024847	-		19049227	1	no_errors	ENST00000304381	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19049227	A	C	19049227	3	2	196	1	0	0	0	0	1	0	0	0	15997	14	1	5	1067	5	TMC7	16	19049227	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1837702	19049227	71305526	1746	15018											
GPR139	124274	genome.wustl.edu	37	chr16	20043818	20043818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacttctatgatcttgtCggggacctgaggcatctgca	11	11	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:20043818C>T	ENST00000570682.1	-	2	601	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	101					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGATCTTGTCGGGGACCTGA	0.483																																																	0								ENSG00000180269						110	96	101					16																	20043818		2203	4300	6503	GPR139	SO:0001583	missense	0			-	HGNC	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.301G>A	16.37:g.20043818C>T	ENSP00000458791:p.Asp101Asn	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	50	31.08	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D101N	ENST00000570682.1	37	c.301	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	C	3.873	-0.027440	0.07589	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	-1.5	0.08691	GPCR, rhodopsin-like superfamily (1);	0.303136	0.40554	N	0.001078	T	0.19248	0.0462	N	0.04959	-0.14	0.27394	N	0.955046	B	0.06786	0.001	B	0.06405	0.002	T	0.12243	-1.0555	9	0.62326	D	0.03	-23.0827	9.771	0.40589	0.0:0.4841:0.0:0.5159	.	101	Q6DWJ6	GP139_HUMAN	N	101	.	ENSP00000370779:D101N	D	-	1	0	GPR139	19951319	0.966000	0.33281	0.053000	0.19242	0.284000	0.27059	1.798000	0.38814	-0.549000	0.06191	-0.136000	0.14681	GAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	protein_coding	OTTHUMT00000438522.1	C	NM_001002911	-		20043818	-1	no_errors	ENST00000570682	ensembl	human	known	74_37	missense	SNP	0.340	T	T	20043818	C	T	20043818	3	4	196	1	0	0	0	0	1	0	0	0	6650	884	31	1	764	1	GPR139	16	20043818	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	994591	20043818	70310935	1747	15019											
ACSM2B	348158	genome.wustl.edu	37	chr16	20554275	20554275	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctgctgatcacagccgtCtcaaccacagcagggtgctt	12	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:20554275C>T	ENST00000329697.6	-	12	1638	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E	ACSM2B_ENST00000567001.1_Silent_p.E490E|ACSM2B_ENST00000565232.1_Silent_p.E490E|ACSM2B_ENST00000565322.1_Silent_p.E411E|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACAGCCGTCTCAACCACAG	0.557																																																	0								ENSG00000066813						105	101	102					16																	20554275		2201	4299	6500	ACSM2B	SO:0001819	synonymous_variant	0			-	HGNC	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1470G>A	16.37:g.20554275C>T		Somatic	0	87	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	115	18.31	Q86YT1	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.E490	ENST00000329697.6	37	c.1470	CCDS10586.1	16																																																																																			-	pfam_AMP-dep_Synth/Lig		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	protein_coding	OTTHUMT00000254417.2	C	NM_182617	-		20554275	-1	no_errors	ENST00000329697	ensembl	human	known	74_37	silent	SNP	0.736	T	T	20554275	C	T	20554275	2	4	196	1	0	0	0	0	0	0	0	1	184	912	32	2		2	ACSM2B	16	20554275	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	510457	20554275	69800478	1748	15020											
ERI2	112479	genome.wustl.edu	37	chr16	20809073	20809073	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcattgaaggcctgagtctCaaagaatttttggtggaaat	10	6	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:20809073C>T	ENST00000357967.4	-	9	2091	c.2049G>A	c.(2047-2049)ttG>ttA	p.L683L	ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Silent_p.L590L|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000389345.5_Silent_p.L418L|ERI2_ENST00000563117.1_Silent_p.L590L	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	683							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GCCTGAGTCTCAAAGAATTTT	0.363																																																	0								ENSG00000196678						100	89	92					16																	20809073		692	1590	2282	ERI2	SO:0001819	synonymous_variant	0			-	HGNC	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.2049G>A	16.37:g.20809073C>T		Somatic	0	101	0		0.52429534266604	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	90	31.58	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Silent	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L683	ENST00000357967.4	37	c.2049	CCDS45436.1	16																																																																																			-	NULL		0.363	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	protein_coding		C	NM_080663	-		20809073	-1	no_errors	ENST00000357967	ensembl	human	known	74_37	silent	SNP	0.956	T	T	20809073	C	T	20809073	2	4	196	1	0	0	0	0	0	0	0	1	5230	825	29	2		2	ERI2	16	20809073	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	254798	20809073	69545680	1749	15021											
PRKCB	5579	genome.wustl.edu	37	chr16	24043503	24043503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccacacgtactccagccCcacgttttgtgaccactgtg	8	15	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:24043503C>T	ENST00000321728.7	+	4	510	c.335C>T	c.(334-336)cCc>cTc	p.P112L	PRKCB_ENST00000303531.7_Missense_Mutation_p.P112L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	112					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P112L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TACTCCAGCCCCACGTTTTGT	0.527																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000166501						115	98	104					16																	24043503		2197	4300	6497	PRKCB	SO:0001583	missense	0			-	HGNC	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.335C>T	16.37:g.24043503C>T	ENSP00000318315:p.Pro112Leu	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	37.84	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.P112L	ENST00000321728.7	37	c.335	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457646	0.84317	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.93547	-3.24;-3.24	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77557	0.948;0.99	D	0.97228	0.9882	10	0.62326	D	0.03	.	16.6542	0.85224	0.0:1.0:0.0:0.0	.	112;112	P05771-2;P05771	.;KPCB_HUMAN	L	112	ENSP00000318315:P112L;ENSP00000305355:P112L	ENSP00000305355:P112L	P	+	2	0	PRKCB	23951004	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.461000	0.80834	2.248000	0.74166	0.462000	0.41574	CCC	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	protein_coding	OTTHUMT00000254504.2	C	NM_212535	-		24043503	1	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24043503	C	T	24043503	3	4	196	1	0	0	0	0	1	0	0	0	12513	623	22	2	349	2	PRKCB	16	24043503	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3234430	24043503	66311250	1750	15022											
AQP8	343	genome.wustl.edu	37	chr16	25232850	25232850	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaacctggtgatgctcctCccgtactgggtctcacagct	9	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:25232850C>T	ENST00000219660.5	+	3	458	c.333C>T	c.(331-333)ctC>ctT	p.L111L	AQP8_ENST00000566125.1_Silent_p.L105L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	111					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TGATGCTCCTCCCGTACTGGG	0.622																																																	0								ENSG00000103375						100	88	92					16																	25232850		2197	4300	6497	AQP8	SO:0001819	synonymous_variant	0			-	HGNC	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"Ion channels / Aquaporins"	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.333C>T	16.37:g.25232850C>T		Somatic	0	46	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	40	37.50	Q8IUU3|Q9UIA4	Silent	SNP							pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP	p.L111	ENST00000219660.5	37	c.333	CCDS10626.1	16																																																																																			-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP		0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP8	protein_coding	OTTHUMT00000214102.2	C	NM_001169	-		25232850	1	no_errors	ENST00000219660	ensembl	human	known	74_37	silent	SNP	0.216	T	T	25232850	C	T	25232850	2	4	196	1	0	0	0	0	0	0	0	1	832	842	30	2		2	AQP8	16	25232850	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1189347	25232850	65121903	1751	15023											
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25255458	25255458	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgttctggtgtccggagGaagccgcactctcgaagctg	13	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:25255458G>A	ENST00000328086.7	-	6	2432	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	543					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTGTCCGGAGGAAGCCGCACT	0.512																																																	0								ENSG00000155592						76	75	75					16																	25255458		2197	4300	6497	ZKSCAN2	SO:0001819	synonymous_variant	0			-	HGNC	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1629C>T	16.37:g.25255458G>A		Somatic	0	44	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	53	28.38	A1L3B4|Q6ZN77	Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F543	ENST00000328086.7	37	c.1629	CCDS32410.1	16																																																																																			-	NULL		0.512	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	protein_coding	OTTHUMT00000435739.1	G	NM_001012981	-		25255458	-1	no_errors	ENST00000328086	ensembl	human	known	74_37	silent	SNP	1.000	A	A	25255458	G	A	25255458	2	1	196	1	0	0	0	0	0	0	0	1	17694	1165	41	2		2	ZKSCAN2	16	25255458	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	22608	25255458	65099295	1752	15024											
HS3ST4	9951	genome.wustl.edu	37	chr16	26146954	26146954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgatgcccaagactttGgatgggcaaataaccatgga	11	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:26146954G>A	ENST00000331351.5	+	2	1148	c.756G>A	c.(754-756)ttG>ttA	p.L252L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	252					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAAGACTTTGGATGGGCAAA	0.433																																																	0								ENSG00000182601						67	62	64					16																	26146954		1568	3582	5150	HS3ST4	SO:0001819	synonymous_variant	0			-	HGNC	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.756G>A	16.37:g.26146954G>A		Somatic	0	60	0		0.52429534266604	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	80	17.53	Q5QI42|Q8NDC2	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L252	ENST00000331351.5	37	c.756	CCDS53995.1	16																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.433	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	protein_coding	OTTHUMT00000133286.2	G	NM_006040	-		26146954	1	no_errors	ENST00000331351	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26146954	G	A	26146954	2	1	196	1	0	0	0	0	0	0	0	1	7369	1339	47	2		2	HS3ST4	16	26146954	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	891496	26146954	64207799	1753	15025											
GTF3C1	2975	genome.wustl.edu	37	chr16	27503659	27503659	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagacagccgacacccacCtagtggggtgttgaggcaga	14	12	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:27503659C>T	ENST00000356183.4	-	19	3166	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	GTF3C1_ENST00000561623.1_Splice_Site_p.G1051S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1051					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGACACCCACCTAGTGGGGTG	0.552																																																	0								ENSG00000077235						55	57	57					16																	27503659		2197	4300	6497	GTF3C1	SO:0001630	splice_region_variant	0			-	HGNC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3151+1G>A	16.37:g.27503659C>T		Somatic	0	50	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	36	38.98	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP							pfam_TFIIIC_Bblock-bd	p.G1051S	ENST00000356183.4	37	c.3151	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.717933	0.96839	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.41400	1.0	5.81	5.81	0.92471	.	0.059694	0.64402	D	0.000002	T	0.66107	0.2756	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63466	-0.6631	9	.	.	.	-17.711	19.693	0.96009	0.0:1.0:0.0:0.0	.	1051;1051	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1051;1049	ENSP00000348510:G1051S	.	G	-	1	0	GTF3C1	27411160	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.240000	0.78192	2.746000	0.94184	0.655000	0.94253	GGC	-	NULL		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	C	NM_001520	-	Missense_Mutation	27503659	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27503659	C	T	27503659	5	4	196	1	0	0	0	0	0	0	1	0	6874	695	24	2	3254	2	GTF3C1	16	27503659	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1356705	27503659	62851094	1754	15026											
KIAA0556	23247	genome.wustl.edu	37	chr16	27761019	27761019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaccgctcccaccggggacGcatctccaacacggagctcc	10	19	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:27761019G>T	ENST00000261588.4	+	16	2757	c.2738G>T	c.(2737-2739)cGc>cTc	p.R913L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	913						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CACCGGGGACGCATCTCCAAC	0.647																																																	0								ENSG00000047578						56	54	54					16																	27761019		2197	4300	6497	KIAA0556	SO:0001583	missense	0			-	HGNC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2738G>T	16.37:g.27761019G>T	ENSP00000261588:p.Arg913Leu	Somatic	0	27	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	A7E2C2	Missense_Mutation	SNP							superfamily_Thaumatin	p.R913L	ENST00000261588.4	37	c.2738	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.206853	0.95033	.	.	ENSG00000047578	ENST00000261588	T	0.30981	1.51	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.68952	2.095	0.51767	D	0.999939	D	0.89917	1.0	D	0.97110	1.0	T	0.60571	-0.7237	10	0.87932	D	0	-1.33	17.6464	0.88149	0.0:0.0:1.0:0.0	.	913	O60303	K0556_HUMAN	L	913	ENSP00000261588:R913L	ENSP00000261588:R913L	R	+	2	0	KIAA0556	27668520	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	9.008000	0.93601	2.320000	0.78422	0.655000	0.94253	CGC	-	NULL		0.647	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	G	NM_015202	-		27761019	1	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27761019	G	T	27761019	3	4	196	1	0	0	0	0	1	0	0	0	8185	1087	38	3	2800	3	KIAA0556	16	27761019	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	257360	27761019	62593734	1755	15027											
ATXN2L	11273	genome.wustl.edu	37	chr16	28844425	28844425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagcctggatccttttcctCcccggatcttaaaggaggag	10	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:28844425C>T	ENST00000336783.4	+	14	1872	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	ATXN2L_ENST00000570200.1_Missense_Mutation_p.P569S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P569S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P575S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P569S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P569S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P569S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	569					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCTTTTCCTCCCCGGATCTT	0.542																																																	0								ENSG00000168488						119	123	122					16																	28844425		2197	4300	6497	ATXN2L	SO:0001583	missense	0			-	HGNC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1705C>T	16.37:g.28844425C>T	ENSP00000338718:p.Pro569Ser	Somatic	0	91	0		0.52429534266604	76	42.86	57	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	62	33.33	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP							pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P569S	ENST00000336783.4	37	c.1705	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	11.09	1.537488	0.27475	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.42900	0.96;0.96;0.97;0.96;0.96	5.8	-1.15	0.09709	.	0.467195	0.21833	N	0.068458	T	0.11793	0.0287	N	0.01352	-0.895	0.27361	N	0.955977	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.08055	0.002;0.0;0.001;0.001;0.002;0.002;0.001;0.003	T	0.32508	-0.9904	10	0.14656	T	0.56	-1.8461	6.9994	0.24801	0.0:0.5582:0.1136:0.3282	.	569;569;569;569;569;569;569;569	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	569	ENSP00000341459:P569S;ENSP00000378917:P569S;ENSP00000338718:P569S;ENSP00000372133:P569S;ENSP00000315650:P569S	ENSP00000315650:P569S	P	+	1	0	ATXN2L	28751926	0.083000	0.21467	0.996000	0.52242	0.998000	0.95712	-0.035000	0.12205	0.097000	0.17492	0.655000	0.94253	CCC	-	NULL		0.542	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	protein_coding	OTTHUMT00000214139.1	C	NM_007245	-		28844425	1	no_errors	ENST00000395547	ensembl	human	known	74_37	missense	SNP	0.904	T	T	28844425	C	T	28844425	3	4	196	1	0	0	0	0	1	0	0	0	1212	855	30	2	1759	2	ATXN2L	16	28844425	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1083406	28844425	61510328	1756	15028											
ATP2A1	487	genome.wustl.edu	37	chr16	28912047	28912047	+	Missense_Mutation	SNP	G	G	A													cacagccattgccatctgccGgcgaattggcatctttgggg					rs182084601		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:28912047G>A	ENST00000357084.3	+	15	2177	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R512Q|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R637Q	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	637					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCATCTGCCGGCGAATTGGC	0.642													G|||	1	0.000199681	0	0	5008	,	,		16185	0		0.001	False		,,,				2504	0																0								ENSG00000196296						93	76	81					16																	28912047		2197	4300	6497	ATP2A1	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1910G>A	16.37:g.28912047G>A	ENSP00000349595:p.Arg637Gln	Somatic	0	65	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	55	37.78	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.R637Q	ENST00000357084.3	37	c.1910	CCDS10643.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.2	4.901598	0.92035	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.95918	-3.85;-3.85;-3.85	5.31	3.35	0.38373	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.054201	0.64402	N	0.000001	D	0.96846	0.8970	M	0.79614	2.46	0.46396	D	0.999025	D;D;D	0.89917	1.0;0.998;0.988	D;P;P	0.64237	0.923;0.853;0.676	D	0.96238	0.9173	10	0.72032	D	0.01	.	11.2537	0.49041	0.153:0.0:0.847:0.0	.	512;637;637	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	637;637;674;512	ENSP00000349595:R637Q;ENSP00000378879:R637Q;ENSP00000443101:R512Q	ENSP00000349595:R637Q	R	+	2	0	ATP2A1	28819548	1.000000	0.71417	0.621000	0.29145	0.978000	0.69477	7.951000	0.87819	0.639000	0.30564	-0.344000	0.07964	CGG	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA		0.642	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	protein_coding	OTTHUMT00000254686.2	G	NM_004320	rs182084601		28912047	1	no_errors	ENST00000357084	ensembl	human	known	74_37	missense	SNP	0.995	A	A	28912047	G	A	28912047	3	1	196	1	0	0	0	0	1	0	0	0	1136	1116	39	1	1968	1	ATP2A1	16	28912047	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	67622	28912047	61442706	1757	15029	335	2									
ATP2A1	487	genome.wustl.edu	37	chr16	28912048	28912048	+	Silent	SNP	G	G	A													acagccattgccatctgccgGcgaattggcatctttgggga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:28912048G>A	ENST00000357084.3	+	15	2178	c.1911G>A	c.(1909-1911)cgG>cgA	p.R637R	ATP2A1_ENST00000536376.1_Silent_p.R512R|ATP2A1_ENST00000395503.4_Silent_p.R637R	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	637					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCATCTGCCGGCGAATTGGCA	0.642																																																	0								ENSG00000196296						92	75	81					16																	28912048		2197	4300	6497	ATP2A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1911G>A	16.37:g.28912048G>A		Somatic	0	65	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	55	38.20	A8K5J9|B3KY17|O14984	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.R637	ENST00000357084.3	37	c.1911	CCDS10643.1	16																																																																																			-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA		0.642	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	protein_coding	OTTHUMT00000254686.2	G	NM_004320	-		28912048	1	no_errors	ENST00000357084	ensembl	human	known	74_37	silent	SNP	0.116	A	A	28912048	G	A	28912048	2	1	196	1	0	0	0	0	0	0	0	1	1136	1190	42	2		2	ATP2A1	16	28912048	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	28912048	61442705	1758	15030	335	2									
C16orf54	283897	genome.wustl.edu	37	chr16	29756041	29756041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaatccacagctctcCtcctgggcgccacaccaggg	11	17	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:29756041C>T	ENST00000329410.3	-	2	327	c.232G>A	c.(232-234)Gga>Aga	p.G78R	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	78						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CACAGCTCTCCTCCTGGGCGC	0.677																																																	0								ENSG00000185905						16	16	16					16																	29756041		2174	4268	6442	C16orf54	SO:0001583	missense	0			-	HGNC	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.232G>A	16.37:g.29756041C>T	ENSP00000327506:p.Gly78Arg	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	46	34.29	A6NJR6|Q8NAB0	Missense_Mutation	SNP							NULL	p.G78R	ENST00000329410.3	37	c.232	CCDS10652.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564413	0.86335	.	.	ENSG00000185905	ENST00000329410	T	0.43294	0.95	5.28	5.28	0.74379	.	0.000000	0.41294	U	0.000905	T	0.53658	0.1810	L	0.32530	0.975	0.44275	D	0.997131	D	0.89917	1.0	D	0.97110	1.0	T	0.56384	-0.7988	10	0.87932	D	0	-7.2985	14.3999	0.67037	0.0:1.0:0.0:0.0	.	78	Q6UWD8	CP054_HUMAN	R	78	ENSP00000327506:G78R	ENSP00000327506:G78R	G	-	1	0	C16orf54	29663542	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.320000	0.51991	2.479000	0.83701	0.313000	0.20887	GGA	-	NULL		0.677	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf54	protein_coding	OTTHUMT00000255158.1	C	NM_175900	-		29756041	-1	no_errors	ENST00000329410	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29756041	C	T	29756041	3	4	196	1	0	0	0	0	1	0	0	0	1821	690	24	2	446	2	C16orf54	16	29756041	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	843993	29756041	60598712	1759	15031											
TAOK2	9344	genome.wustl.edu	37	chr16	29997004	29997004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagaaccccagcactcCcaagcgggagaaggccgagt	13	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:29997004C>T	ENST00000308893.4	+	15	2857	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	TAOK2_ENST00000279394.3_Missense_Mutation_p.P605L|TAOK2_ENST00000543033.1_Missense_Mutation_p.P605L|TAOK2_ENST00000416441.2_Missense_Mutation_p.P432L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	605					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCAGCACTCCCAAGCGGGAG	0.697																																																	0								ENSG00000149930						14	14	14					16																	29997004		2194	4292	6486	TAOK2	SO:0001583	missense	0			-	HGNC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1814C>T	16.37:g.29997004C>T	ENSP00000310094:p.Pro605Leu	Somatic	0	38	0		0.52429534266604	28	52.54	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	32	47.54	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P605L	ENST00000308893.4	37	c.1814	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995855	0.93167	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T;T	0.45668	2.7;0.89;0.89;0.89	5.05	5.05	0.67936	.	0.059674	0.64402	D	0.000002	T	0.68824	0.3043	M	0.84433	2.695	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	0.91635	0.997;0.999;0.999;0.999;0.999	T	0.73388	-0.3998	9	.	.	.	.	17.2	0.86903	0.0:1.0:0.0:0.0	.	796;432;605;605;605	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	L	605	ENSP00000393048:P605L;ENSP00000310094:P605L;ENSP00000440336:P605L;ENSP00000279394:P605L	.	P	+	2	0	TAOK2	29904505	1.000000	0.71417	0.993000	0.49108	0.968000	0.65278	7.818000	0.86416	2.357000	0.79964	0.557000	0.71058	CCC	-	NULL		0.697	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	protein_coding	OTTHUMT00000255152.2	C	NM_016151	-		29997004	1	no_errors	ENST00000308893	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29997004	C	T	29997004	3	4	196	1	0	0	0	0	1	0	0	0	15555	623	22	2	1868	2	TAOK2	16	29997004	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	240963	29997004	60357749	1760	15032											
ALDOA	226	genome.wustl.edu	37	chr16	30079987	30079987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacaagggcgtggtcccCctggcagggacaaatggcga	16	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30079987C>T	ENST00000566897.1	+	7	1497	c.345C>T	c.(343-345)ccC>ccT	p.P115P	ALDOA_ENST00000563060.2_Silent_p.P115P|ALDOA_ENST00000569798.1_Silent_p.P115P|ALDOA_ENST00000395248.1_Silent_p.P169P|ALDOA_ENST00000395240.3_Silent_p.P115P|ALDOA_ENST00000338110.5_Silent_p.P115P|ALDOA_ENST00000569545.1_Silent_p.P115P|ALDOA_ENST00000564595.2_Silent_p.P169P|ALDOA_ENST00000564546.1_Silent_p.P115P|ALDOA_ENST00000412304.2_Silent_p.P115P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	115					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCGTGGTCCCCCTGGCAGGGA	0.562																																																	0								ENSG00000149925						137	117	124					16																	30079987		2197	4300	6497	ALDOA	SO:0001819	synonymous_variant	0			-	HGNC	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.345C>T	16.37:g.30079987C>T		Somatic	0	66	0		0.52429534266604	3432	24.31	1104	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	72	31.43	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP							pfam_Aldolase_I	p.P115	ENST00000566897.1	37	c.345	CCDS10668.1	16																																																																																			-	pfam_Aldolase_I		0.562	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	protein_coding	OTTHUMT00000435360.1	C	NM_000034	-		30079987	1	no_errors	ENST00000338110	ensembl	human	known	74_37	silent	SNP	0.999	T	T	30079987	C	T	30079987	2	4	196	1	0	0	0	0	0	0	0	1	507	610	22	2		2	ALDOA	16	30079987	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	82983	30079987	60274766	1761	15033											
MYLPF	1731	genome.wustl.edu	37	chr16	30387802	30387802	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggaagccagcggtccCatcaacttcaccgtcttcct	8	14	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30387802C>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Silent_p.P77P			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCAGCGGTCCCATCAACTTCA	0.597																																																	0								ENSG00000180209						133	130	131					16																	30387802		2197	4300	6497	MYLPF	SO:0001628	intergenic_variant	0			-	HGNC	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387802C>A		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.P77	ENST00000571393.1	37	c.231		16																																																																																			-	NULL		0.597	SEPT1-201	KNOWN	basic	protein_coding	MYLPF	protein_coding		C	NM_052838	-		30387802	1	no_errors	ENST00000322861	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30387802	C	A	30387802	1	1	196	0	1	0	0	0	0	0	0	0	10062	581	21	3		3	MYLPF	16	30387802	IGR	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	307815	30387802	59966951	1762	15034											
SEPHS2	22928	genome.wustl.edu	37	chr16	30456071	30456071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttttgcaaggttctgGgagtgtcctagaatgccaaa	12	6	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30456071G>A	ENST00000478753.2	-	1	1431	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SEPHS2_ENST00000542752.1_Silent_p.S269S|SEPHS2_ENST00000500504.2_Silent_p.S326S			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	326					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAAGGTTCTGGGAGTGTCCTA	0.458																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0								ENSG00000179918						92	85	87					16																	30456071		1916	4134	6050	SEPHS2	SO:0001819	synonymous_variant	0			-	HGNC	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.978C>T	16.37:g.30456071G>A		Somatic	0	42	0		0.52429534266604	106	34.15	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	Q9BUQ2	Silent	SNP							pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.S269	ENST00000478753.2	37	c.807		16																																																																																			-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD		0.458	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	protein_coding	OTTHUMT00000109640.11	G	NM_012248	-		30456071	-1	no_errors	ENST00000542752	ensembl	human	known	74_37	silent	SNP	0.786	A	A	30456071	G	A	30456071	2	1	196	1	0	0	0	0	0	0	0	1	14063	1219	43	2		2	SEPHS2	16	30456071	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	68269	30456071	59898682	1763	15035											
ZNF764	92595	genome.wustl.edu	37	chr16	30567121	30567121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgaagcccttgccgcaGtcagtgcagtggaagggctt	15	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30567121G>A	ENST00000252797.2	-	3	701	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZNF764_ENST00000395091.2_Silent_p.D206D|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CCTTGCCGCAGTCAGTGCAGT	0.647																																																	0								ENSG00000169951						28	28	28					16																	30567121		2196	4299	6495	ZNF764	SO:0001819	synonymous_variant	0			-	HGNC	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.621C>T	16.37:g.30567121G>A		Somatic	0	44	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	61	17.57	A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D207	ENST00000252797.2	37	c.621	CCDS10683.1	16																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF764	protein_coding	OTTHUMT00000255541.1	G	NM_033410	-		30567121	-1	no_errors	ENST00000252797	ensembl	human	known	74_37	silent	SNP	0.099	A	A	30567121	G	A	30567121	2	1	196	1	0	0	0	0	0	0	0	1	18145	1020	36	2		2	ZNF764	16	30567121	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	111050	30567121	59787632	1764	15036											
SRCAP	10847	genome.wustl.edu	37	chr16	30740868	30740868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcacccagttccctgaCttaagactcatccagtatga	7	13	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30740868C>T	ENST00000262518.4	+	27	6487	c.6102C>T	c.(6100-6102)gaC>gaT	p.D2034D	SRCAP_ENST00000395059.2_Silent_p.D1972D|SRCAP_ENST00000344771.4_Silent_p.D1876D	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2034					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTTCCCTGACTTAAGACTCA	0.507																																																	0								ENSG00000080603						139	124	129					16																	30740868		2197	4300	6497	SRCAP	SO:0001819	synonymous_variant	0			-	HGNC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6102C>T	16.37:g.30740868C>T		Somatic	0	48	0		0.52429534266604	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.D2034	ENST00000262518.4	37	c.6102	CCDS10689.2	16																																																																																			-	superfamily_P-loop_NTPase		0.507	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	protein_coding	OTTHUMT00000255523.1	C	NM_006662	-		30740868	1	no_errors	ENST00000262518	ensembl	human	known	74_37	silent	SNP	0.999	T	T	30740868	C	T	30740868	2	4	196	1	0	0	0	0	0	0	0	1	15142	564	20	2		2	SRCAP	16	30740868	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	173747	30740868	59613885	1765	15037											
FBXL19	54620	genome.wustl.edu	37	chr16	30938630	30938630	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccctctcccccaacagcCcgtgctcccacacacagctg	6	22	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30938630C>T	ENST00000380310.2	+	3	397	c.239C>T	c.(238-240)cCc>cTc	p.P80L	FBXL19_ENST00000565690.1_Splice_Site_p.P60L|FBXL19_ENST00000562319.1_Splice_Site_p.P60L|FBXL19_ENST00000338343.4_Splice_Site_p.P60L|FBXL19_ENST00000471231.2_5'UTR	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	80					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCCAACAGCCCGTGCTCCCA	0.602																																																	0								ENSG00000099364						77	82	80					16																	30938630		1940	4129	6069	FBXL19	SO:0001630	splice_region_variant	0			-	HGNC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.238-1C>T	16.37:g.30938630C>T		Somatic	0	83	0		0.52429534266604	14	33.33	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	106	17.19	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP							pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P80L	ENST00000380310.2	37	c.239	CCDS45465.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547963	0.86022	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.34072	1.38;1.67	5.12	5.12	0.69794	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	T	0.66577	0.2803	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.73113	-0.4085	10	0.87932	D	0	-14.6861	17.7151	0.88333	0.0:1.0:0.0:0.0	.	80;80	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	L	60;80	ENSP00000339712:P60L;ENSP00000369666:P80L	ENSP00000339712:P60L	P	+	2	0	FBXL19	30846131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.592000	0.82676	2.575000	0.86900	0.448000	0.29417	CCC	-	superfamily_Znf_FYVE_PHD		0.602	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	protein_coding		C	NM_019085	-	Missense_Mutation	30938630	1	no_errors	ENST00000380310	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30938630	C	T	30938630	5	4	196	1	0	0	0	0	0	0	1	0	5717	637	22	2	249	2	FBXL19	16	30938630	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	197762	30938630	59416123	1766	15038											
ORAI3	93129	genome.wustl.edu	37	chr16	30964794	30964794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctggttggttgggtcAagtttgtgcccattggggct	15	7	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30964794A>G	ENST00000318663.4	+	2	741	c.517A>G	c.(517-519)Aag>Gag	p.K173E	ORAI3_ENST00000566237.1_Missense_Mutation_p.K173E|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	173					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						TGGTTGGGTCAAGTTTGTGCC	0.622											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000175938						146	165	159					16																	30964794		2197	4300	6497	ORAI3	SO:0001583	missense	0			-	HGNC	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.517A>G	16.37:g.30964794A>G	ENSP00000322249:p.Lys173Glu	Somatic	0	53	0	821	0.52429534266604	19	45.95	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	Q96BI8	Missense_Mutation	SNP							pfam_CRAC_channel	p.K173E	ENST00000318663.4	37	c.517	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	A	29.3	4.997239	0.93167	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.55052	0.54	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000014	T	0.71517	0.3349	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75113	-0.3432	10	0.87932	D	0	-12.0845	14.751	0.69525	1.0:0.0:0.0:0.0	.	173	Q9BRQ5	ORAI3_HUMAN	E	173	ENSP00000322249:K173E	ENSP00000322249:K173E	K	+	1	0	ORAI3	30872295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.133000	0.65898	0.528000	0.53228	AAG	-	pfam_CRAC_channel		0.622	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	protein_coding	OTTHUMT00000255545.20	A	NM_152288	-		30964794	1	no_errors	ENST00000318663	ensembl	human	known	74_37	missense	SNP	1.000	G	G	30964794	A	G	30964794	3	3	196	1	0	0	0	0	1	0	0	0	11261	131	5	5	523	5	ORAI3	16	30964794	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	26164	30964794	59389959	1767	15039											
SETD1A	9739	genome.wustl.edu	37	chr16	30976497	30976497	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccggagaccaccaatgaGagtgtgcccttcgcccagca	11	16	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30976497G>A	ENST00000262519.8	+	7	2120	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	478	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACCAATGAGAGTGTGCCCT	0.642																																																	0								ENSG00000099381						37	39	38					16																	30976497		2197	4300	6497	SETD1A	SO:0001819	synonymous_variant	0			-	HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1434G>A	16.37:g.30976497G>A		Somatic	0	57	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP							pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.E478	ENST00000262519.8	37	c.1434	CCDS32435.1	16																																																																																			-	NULL		0.642	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	G	NM_014712	-		30976497	1	no_errors	ENST00000262519	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30976497	G	A	30976497	2	1	196	1	0	0	0	0	0	0	0	1	14138	933	33	2		2	SETD1A	16	30976497	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	11703	30976497	59378256	1768	15040											
SETD1A	9739	genome.wustl.edu	37	chr16	30977487	30977487	+	Missense_Mutation	SNP	C	C	T													agccgagcccctgccctcctCctcagtctcgggagaggagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30977487C>T	ENST00000262519.8	+	8	2971	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	762					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGCCCTCCTCCTCAGTCTCG	0.672																																																	0								ENSG00000099381						17	19	19					16																	30977487		2176	4253	6429	SETD1A	SO:0001583	missense	0			-	HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2285C>T	16.37:g.30977487C>T	ENSP00000262519:p.Ser762Phe	Somatic	0	18	0		0.52429534266604	16	5.88	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP							pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S762F	ENST00000262519.8	37	c.2285	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626660	0.46840	.	.	ENSG00000099381	ENST00000262519	D	0.93953	-3.32	5.59	5.59	0.84812	.	0.611865	0.15977	N	0.235470	D	0.91553	0.7332	N	0.11560	0.145	0.50467	D	0.999878	D	0.62365	0.991	P	0.55161	0.77	D	0.92577	0.6071	10	0.54805	T	0.06	.	18.3612	0.90375	0.0:1.0:0.0:0.0	.	762	O15047	SET1A_HUMAN	F	762	ENSP00000262519:S762F	ENSP00000262519:S762F	S	+	2	0	SETD1A	30884988	0.997000	0.39634	0.986000	0.45419	0.701000	0.40568	3.894000	0.56250	2.635000	0.89317	0.655000	0.94253	TCC	-	NULL		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	C	NM_014712	-		30977487	1	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	SNP	0.996	T	T	30977487	C	T	30977487	3	4	196	1	0	0	0	0	1	0	0	0	14138	855	30	2	2311	2	SETD1A	16	30977487	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	990	30977487	59377266	1769	15041	336	2									
SETD1A	9739	genome.wustl.edu	37	chr16	30977488	30977488	+	Silent	SNP	C	C	T													gccgagcccctgccctcctcCtcagtctcgggagaggaggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30977488C>T	ENST00000262519.8	+	8	2972	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	762					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGCCCTCCTCCTCAGTCTCGG	0.672																																																	0								ENSG00000099381						17	19	19					16																	30977488		2176	4255	6431	SETD1A	SO:0001819	synonymous_variant	0			-	HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2286C>T	16.37:g.30977488C>T		Somatic	0	18	0		0.52429534266604	18	5.26	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP							pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S762	ENST00000262519.8	37	c.2286	CCDS32435.1	16																																																																																			-	NULL		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	C	NM_014712	-		30977488	1	no_errors	ENST00000262519	ensembl	human	known	74_37	silent	SNP	0.999	T	T	30977488	C	T	30977488	2	4	196	1	0	0	0	0	0	0	0	1	14138	668	24	2		2	SETD1A	16	30977488	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	30977488	59377265	1770	15042	336	2									
SETD1A	9739	genome.wustl.edu	37	chr16	30978303	30978303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccctcgtggactgggccaaGagcgggggcactacgggcat	16	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30978303G>A	ENST00000262519.8	+	9	3290	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	868					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTGGGCCAAGAGCGGGGGCA	0.597																																																	0								ENSG00000099381						32	29	30					16																	30978303		2197	4300	6497	SETD1A	SO:0001819	synonymous_variant	0			-	HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2604G>A	16.37:g.30978303G>A		Somatic	0	63	0		0.52429534266604	14	42.31	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	53	39.08	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP							pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.K868	ENST00000262519.8	37	c.2604	CCDS32435.1	16																																																																																			-	NULL		0.597	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	G	NM_014712	-		30978303	1	no_errors	ENST00000262519	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30978303	G	A	30978303	2	1	196	1	0	0	0	0	0	0	0	1	14138	933	33	2		2	SETD1A	16	30978303	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	815	30978303	59376450	1771	15043											
ZNF668	79759	genome.wustl.edu	37	chr16	31075147	31075147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccgctcatggttgcGgaggtccttgagctccgcat	11	15	2	1	rs550440138		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:31075147G>A	ENST00000538906.1	-	2	1418	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Missense_Mutation_p.R235C|ZNF668_ENST00000300849.4_Missense_Mutation_p.R212C|ZNF668_ENST00000426488.2_Missense_Mutation_p.R235C|ZNF668_ENST00000535577.1_Missense_Mutation_p.R212C|ZNF668_ENST00000394983.2_Missense_Mutation_p.R212C	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	212					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCATGGTTGCGGAGGTCCTTG	0.662																																					Colon(181;1111 1980 5060 10512 25785)												0								ENSG00000167394						14	15	14					16																	31075147		2194	4298	6492	ZNF668	SO:0001583	missense	0			-	HGNC		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.634C>T	16.37:g.31075147G>A	ENSP00000440149:p.Arg212Cys	Somatic	0	29	0		0.52429534266604	24	38.46	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	29	50.00	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R235C	ENST00000538906.1	37	c.703	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215947	0.58452	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215877	0.40469	N	0.001087	T	0.53061	0.1773	M	0.69523	2.12	0.46499	D	0.999075	D	0.76494	0.999	D	0.63793	0.918	T	0.52726	-0.8537	10	0.49607	T	0.09	-48.634	9.5656	0.39396	0.0926:0.0:0.9074:0.0	.	212	Q96K58	ZN668_HUMAN	C	235;212;212;212;212	ENSP00000442573:R235C;ENSP00000441349:R212C;ENSP00000440149:R212C;ENSP00000378434:R212C;ENSP00000300849:R212C	ENSP00000300849:R212C	R	-	1	0	ZNF668	30982648	0.981000	0.34729	0.826000	0.32828	0.393000	0.30537	4.653000	0.61462	2.694000	0.91930	0.555000	0.69702	CGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	protein_coding	OTTHUMT00000108516.2	G	NM_024706	-		31075147	-1	no_errors	ENST00000426488	ensembl	human	known	74_37	missense	SNP	0.714	A	A	31075147	G	A	31075147	3	1	196	1	0	0	0	0	1	0	0	0	18082	1116	39	1	1233	1	ZNF668	16	31075147	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	96844	31075147	59279606	1772	15044											
ITGAM	3684	genome.wustl.edu	37	chr16	31277420	31277420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctctgcttcctgtttGgatccaacctacggcagcag	11	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:31277420G>A	ENST00000287497.8	+	5	454	c.379G>A	c.(379-381)Gga>Aga	p.G127R	RNU7-199P_ENST00000517067.1_RNA|ITGAM_ENST00000544665.3_Missense_Mutation_p.G127R			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	127					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTCCTGTTTGGATCCAACCT	0.607																																																	0								ENSG00000169896						67	69	68					16																	31277420		1991	4165	6156	ITGAM	SO:0001583	missense	0			-	HGNC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.379G>A	16.37:g.31277420G>A	ENSP00000287497:p.Gly127Arg	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	67	34.95	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G127R	ENST00000287497.8	37	c.379	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645449	0.67358	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.61392	0.11;0.11	5.33	3.35	0.38373	.	.	.	.	.	T	0.69287	0.3094	M	0.73217	2.22	0.27959	N	0.936869	D;D	0.56035	0.974;0.974	P;P	0.61201	0.885;0.885	T	0.59637	-0.7417	9	0.41790	T	0.15	.	9.7776	0.40630	0.1668:0.0:0.8332:0.0	.	127;127	Q4VAK1;P11215	.;ITAM_HUMAN	R	127	ENSP00000441691:G127R;ENSP00000287497:G127R	ENSP00000287497:G127R	G	+	1	0	ITGAM	31184921	1.000000	0.71417	0.992000	0.48379	0.784000	0.44337	2.742000	0.47434	1.261000	0.44149	0.644000	0.83932	GGA	-	NULL		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	protein_coding	OTTHUMT00000432816.1	G	NM_000632	-		31277420	1	no_errors	ENST00000544665	ensembl	human	known	74_37	missense	SNP	0.899	A	A	31277420	G	A	31277420	3	1	196	1	0	0	0	0	1	0	0	0	7889	1349	47	2	397	2	ITGAM	16	31277420	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	202273	31277420	59077333	1773	15045											
ABCC12	94160	genome.wustl.edu	37	chr16	48155692	48155692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccatgaaagatccatgcCtgctgtgaaacgtaggccaa	9	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:48155692C>A	ENST00000311303.3	-	11	1992	c.1647G>T	c.(1645-1647)caG>caT	p.Q549H	ABCC12_ENST00000416054.1_Missense_Mutation_p.Q549H|ABCC12_ENST00000448542.1_Missense_Mutation_p.Q549H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	549	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGATCCATGCCTGCTGTGAAA	0.443																																																	0								ENSG00000140798						94	78	83					16																	48155692		2201	4300	6501	ABCC12	SO:0001583	missense	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1647G>T	16.37:g.48155692C>A	ENSP00000311030:p.Gln549His	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q549H	ENST00000311303.3	37	c.1647	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985690	0.18889	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93133	-2.69;-2.69;-3.17	5.41	-0.972	0.10300	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059230	0.64402	N	0.000002	D	0.90456	0.7011	L	0.38649	1.16	0.45227	D	0.998231	B;P	0.43750	0.024;0.816	B;P	0.47744	0.018;0.556	D	0.87596	0.2494	10	0.87932	D	0	.	12.2771	0.54741	0.0:0.5778:0.0:0.4222	.	549;549	Q96J65-2;Q96J65	.;MRP9_HUMAN	H	549;549;491;549	ENSP00000311030:Q549H;ENSP00000401855:Q549H;ENSP00000413046:Q549H	ENSP00000311030:Q549H	Q	-	3	2	ABCC12	46713193	0.997000	0.39634	0.924000	0.36721	0.105000	0.19272	0.396000	0.20867	-0.158000	0.11040	-0.259000	0.10710	CAG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48155692	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	SNP	0.998	A	A	48155692	C	A	48155692	3	1	196	1	0	0	0	0	1	0	0	0	52	680	24	3	2508	3	ABCC12	16	48155692	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	16878272	48155692	42199061	1774	15046											
ABCC11	85320	genome.wustl.edu	37	chr16	48234211	48234211	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggtgggtcaccaggacGaccgtcttccccctgagtgt	13	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:48234211G>A	ENST00000394747.1	-	14	2407	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	ABCC11_ENST00000356608.2_Silent_p.V686V|ABCC11_ENST00000353782.5_Silent_p.V686V|ABCC11_ENST00000394748.1_Silent_p.V686V|ABCC11_ENST00000537808.1_Silent_p.V686V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	686	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TCACCAGGACGACCGTCTTCC	0.552																																																	0								ENSG00000121270						111	96	101					16																	48234211		2201	4300	6501	ABCC11	SO:0001819	synonymous_variant	0			-	HGNC	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.2058C>T	16.37:g.48234211G>A		Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V686	ENST00000394747.1	37	c.2058	CCDS10732.1	16																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	protein_coding	OTTHUMT00000429984.1	G	NM_032583	-		48234211	-1	no_errors	ENST00000356608	ensembl	human	known	74_37	silent	SNP	0.000	A	A	48234211	G	A	48234211	2	1	196	1	0	0	0	0	0	0	0	1	51	1045	37	1		1	ABCC11	16	48234211	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	78519	48234211	42120542	1775	15047											
NUP93	9688	genome.wustl.edu	37	chr16	56855473	56855473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctaacctggtggacCtttgtgcttccgtcgcagag	12	12	0	1	rs146924670		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:56855473C>T	ENST00000308159.5	+	7	743	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	NUP93_ENST00000564887.1_Missense_Mutation_p.L85F|NUP93_ENST00000569842.1_Missense_Mutation_p.L208F|NUP93_ENST00000542526.1_Missense_Mutation_p.L85F	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	208					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						CCTGGTGGACCTTTGTGCTTC	0.428																																					Colon(33;610 796 1305 1705 38917)												0								ENSG00000102900						84	86	85					16																	56855473		2198	4300	6498	NUP93	SO:0001583	missense	0			-	HGNC	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.622C>T	16.37:g.56855473C>T	ENSP00000310668:p.Leu208Phe	Somatic	0	97	0		0.52429534266604	12	60	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	47	43.37	B3KPQ8|Q14705	Missense_Mutation	SNP							pfam_Nucleoporin_int_Nup93/Nic96	p.L208F	ENST00000308159.5	37	c.622	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424194	0.43020	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44881	0.91;0.91	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	L	0.28740	0.885	0.58432	D	0.999999	B	0.31077	0.307	B	0.29598	0.104	T	0.06917	-1.0800	10	0.07990	T	0.79	-15.0603	14.0584	0.64784	0.0:0.9284:0.0:0.0716	.	208	Q8N1F7	NUP93_HUMAN	F	208;85	ENSP00000310668:L208F;ENSP00000440235:L85F	ENSP00000310668:L208F	L	+	1	0	NUP93	55412974	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.489000	0.35562	2.687000	0.91594	0.655000	0.94253	CTT	-	pfam_Nucleoporin_int_Nup93/Nic96		0.428	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	protein_coding	OTTHUMT00000257058.4	C	NM_014669	-		56855473	1	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56855473	C	T	56855473	3	4	196	1	0	0	0	0	1	0	0	0	10774	681	24	2	644	2	NUP93	16	56855473	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8621262	56855473	33499280	1776	15048											
GPR56	9289	genome.wustl.edu	37	chr16	57697426	57697426	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccggggtggcccctcccctCtgaagagcaactcagacagc	11	17	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:57697426C>T	ENST00000388812.4	+	14	2454	c.2014C>T	c.(2014-2016)Ctg>Ttg	p.L672L	GPR56_ENST00000456916.1_Silent_p.L672L|GPR56_ENST00000379696.3_Silent_p.L672L|GPR56_ENST00000568908.1_Silent_p.L666L|GPR56_ENST00000567835.1_Silent_p.L672L|GPR56_ENST00000562558.1_Silent_p.L666L|GPR56_ENST00000568909.1_Silent_p.L672L|GPR56_ENST00000538815.1_Silent_p.L666L|GPR56_ENST00000388813.5_Silent_p.L666L|GPR56_ENST00000544297.1_Silent_p.L491L|GPR56_ENST00000540164.2_Silent_p.L666L|GPR56_ENST00000562631.1_Silent_p.L666L|GPR56_ENST00000379694.4_Silent_p.L502L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	672					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCCCTCCCCTCTGAAGAGCAA	0.662																																																	0								ENSG00000205336						56	58	57					16																	57697426		2198	4300	6498	GPR56	SO:0001819	synonymous_variant	0			-	HGNC	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.2014C>T	16.37:g.57697426C>T		Somatic	0	92	0		0.52429534266604	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	48	23.81	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L672	ENST00000388812.4	37	c.2014	CCDS32460.1	16																																																																																			-	NULL		0.662	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	protein_coding	OTTHUMT00000433436.3	C		-		57697426	1	no_errors	ENST00000379696	ensembl	human	known	74_37	silent	SNP	0.996	T	T	57697426	C	T	57697426	2	4	196	1	0	0	0	0	0	0	0	1	6702	912	32	2		2	GPR56	16	57697426	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	841953	57697426	32657327	1777	15049											
GPR97	222487	genome.wustl.edu	37	chr16	57714230	57714230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggaggtcagacctgagGggaccgtgtgctgctgtgac	16	11	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:57714230G>A	ENST00000333493.4	+	7	882	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	GPR97_ENST00000450388.3_Missense_Mutation_p.G121R|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Missense_Mutation_p.G31R	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	241	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGACCTGAGGGGACCGTGTG	0.622																																																	0								ENSG00000182885						90	86	87					16																	57714230		2198	4300	6498	GPR97	SO:0001583	missense	0			-	HGNC	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.721G>A	16.37:g.57714230G>A	ENSP00000332900:p.Gly241Arg	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.G241R	ENST00000333493.4	37	c.721	CCDS10786.1	16	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004320	0.02112	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.68181	-0.31;-0.31;-0.31	5.21	-10.4	0.00318	GPS domain (3);	2.036870	0.01845	N	0.035529	T	0.31638	0.0803	N	0.00991	-1.07	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40175	-0.9577	10	0.22109	T	0.4	.	9.6481	0.39881	0.4516:0.3244:0.224:0.0	.	241	Q86Y34	GPR97_HUMAN	R	241;31;121	ENSP00000332900:G241R;ENSP00000331199:G31R;ENSP00000404803:G121R	ENSP00000331199:G31R	G	+	1	0	GPR97	56271731	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.350000	0.07721	-3.113000	0.00241	-0.235000	0.12190	GGG	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.622	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	protein_coding	OTTHUMT00000257333.2	G	NM_170776	-		57714230	1	no_errors	ENST00000333493	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57714230	G	A	57714230	3	1	196	1	0	0	0	0	1	0	0	0	6722	1232	43	2	747	2	GPR97	16	57714230	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	16804	57714230	32640523	1778	15050											
ZNF319	57567	genome.wustl.edu	37	chr16	58030805	58030805	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcgtgcagcgcaggggcttCtctgccgccgcacagtgggc	16	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:58030805C>T	ENST00000299237.2	-	2	1987	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCAGGGGCTTCTCTGCCGCCG	0.677																																																	0								ENSG00000166188						19	21	20					16																	58030805		2197	4299	6496	ZNF319	SO:0001819	synonymous_variant	0			-	HGNC	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1365G>A	16.37:g.58030805C>T		Somatic	0	13	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q52LH8	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E455	ENST00000299237.2	37	c.1365	CCDS32462.1	16																																																																																			-	pfscan_Znf_C2H2		0.677	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF319	protein_coding	OTTHUMT00000430317.1	C		-		58030805	-1	no_errors	ENST00000299237	ensembl	human	known	74_37	silent	SNP	1.000	T	T	58030805	C	T	58030805	2	4	196	1	0	0	0	0	0	0	0	1	17844	912	32	2		2	ZNF319	16	58030805	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	316575	58030805	32323948	1779	15051											
MMP15	4324	genome.wustl.edu	37	chr16	58079137	58079137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgggggatggggatggGgactttggggccggggtcaa	23	5	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:58079137G>A	ENST00000219271.3	+	10	2582	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	599					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	ATGGGGATGGGGACTTTGGGG	0.726																																																	0								ENSG00000102996						56	66	63					16																	58079137		2195	4298	6493	MMP15	SO:0001819	synonymous_variant	0			-	HGNC	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1797G>A	16.37:g.58079137G>A		Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	29	61.84	A0A2U6|Q14111	Silent	SNP							pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.G599	ENST00000219271.3	37	c.1797	CCDS10792.1	16																																																																																			-	NULL		0.726	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	protein_coding	OTTHUMT00000257342.1	G	NM_002428	-		58079137	1	no_errors	ENST00000219271	ensembl	human	known	74_37	silent	SNP	0.003	A	A	58079137	G	A	58079137	2	1	196	1	0	0	0	0	0	0	0	1	9656	1219	43	2		2	MMP15	16	58079137	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	48332	58079137	32275616	1780	15052											
PLEKHG4	25894	genome.wustl.edu	37	chr16	67318357	67318357	+	Silent	SNP	G	G	A													aggctgtttcagctcttcagGgaggtgggtgagagtctccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67318357G>A	ENST00000360461.5	+	11	4224	c.1689G>A	c.(1687-1689)agG>agA	p.R563R	PLEKHG4_ENST00000427155.2_Silent_p.R563R|PLEKHG4_ENST00000450733.1_Silent_p.R482R|PLEKHG4_ENST00000379344.3_Silent_p.R563R	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	563							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGCTCTTCAGGGAGGTGGGTG	0.617																																																	0								ENSG00000196155						23	28	27					16																	67318357		2195	4297	6492	PLEKHG4	SO:0001819	synonymous_variant	0			-	HGNC	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1689G>A	16.37:g.67318357G>A		Somatic	0	29	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R563	ENST00000360461.5	37	c.1689	CCDS32466.1	16																																																																																			-	NULL		0.617	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	protein_coding	OTTHUMT00000421395.2	G	NM_015432	-		67318357	1	no_errors	ENST00000360461	ensembl	human	known	74_37	silent	SNP	0.990	A	A	67318357	G	A	67318357	2	1	196	1	0	0	0	0	0	0	0	1	12073	1223	43	2		2	PLEKHG4	16	67318357	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9239220	67318357	23036396	1781	15053	337	2									
PLEKHG4	25894	genome.wustl.edu	37	chr16	67318358	67318358	+	Missense_Mutation	SNP	G	G	A													ggctgtttcagctcttcaggGaggtgggtgagagtctcccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67318358G>A	ENST00000360461.5	+	11	4225	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E564K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E483K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E564K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	564							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTCTTCAGGGAGGTGGGTGA	0.612																																																	0								ENSG00000196155						23	28	27					16																	67318358		2195	4297	6492	PLEKHG4	SO:0001583	missense	0			-	HGNC	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1690G>A	16.37:g.67318358G>A	ENSP00000353646:p.Glu564Lys	Somatic	0	29	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E564K	ENST00000360461.5	37	c.1690	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718664	0.30503	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.07908	3.16;3.16;3.16;3.15	4.15	3.2	0.36748	.	0.271361	0.19786	N	0.106114	T	0.02727	0.0082	N	0.01352	-0.895	0.22754	N	0.998778	B;B	0.22683	0.073;0.043	B;B	0.25291	0.059;0.017	T	0.46638	-0.9177	10	0.12103	T	0.63	.	9.6481	0.39881	0.0:0.7732:0.2268:0.0	.	483;564	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	564;564;564;483	ENSP00000353646:E564K;ENSP00000401118:E564K;ENSP00000368649:E564K;ENSP00000398030:E483K	ENSP00000353646:E564K	E	+	1	0	PLEKHG4	65875859	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	1.609000	0.36858	0.959000	0.37980	-0.515000	0.04445	GAG	-	NULL		0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	protein_coding	OTTHUMT00000421395.2	G	NM_015432	-		67318358	1	no_errors	ENST00000360461	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67318358	G	A	67318358	3	1	196	1	0	0	0	0	1	0	0	0	12073	1175	41	2	1732	2	PLEKHG4	16	67318358	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	67318358	23036395	1782	15054	337	2									
EDC4	23644	genome.wustl.edu	37	chr16	67913638	67913638	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagcccaagttgatgacAcctgacgccttcatgacacc	7	15	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67913638A>C	ENST00000358933.5	+	15	2021	c.1782A>C	c.(1780-1782)acA>acC	p.T594T	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	594					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)		AGTTGATGACACCTGACGCCT	0.607																																																	0								ENSG00000038358						147	124	132					16																	67913638		2198	4299	6497	EDC4	SO:0001819	synonymous_variant	0			-	HGNC	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.1782A>C	16.37:g.67913638A>C		Somatic	0	27	0		0.52429534266604	15	51.52	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP							superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T594	ENST00000358933.5	37	c.1782	CCDS10849.1	16																																																																																			-	NULL		0.607	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	protein_coding	OTTHUMT00000268874.2	A	NM_014329	-		67913638	1	no_errors	ENST00000358933	ensembl	human	known	74_37	silent	SNP	0.445	C	C	67913638	A	C	67913638	2	2	196	1	0	0	0	0	0	0	0	1	4910	146	6	5		5	EDC4	16	67913638	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	595280	67913638	22441115	1783	15055											
EDC4	23644	genome.wustl.edu	37	chr16	67914702	67914702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcactgcacctgctgtcCccacggccccggccagggcc	12	20	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67914702C>T	ENST00000358933.5	+	18	2579	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	780					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)		ACCTGCTGTCCCCACGGCCCC	0.672																																																	0								ENSG00000038358						59	62	61					16																	67914702		2198	4300	6498	EDC4	SO:0001819	synonymous_variant	0			-	HGNC	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.2340C>T	16.37:g.67914702C>T		Somatic	0	19	0		0.52429534266604	11	57.69	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP							superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S780	ENST00000358933.5	37	c.2340	CCDS10849.1	16																																																																																			-	NULL		0.672	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	protein_coding	OTTHUMT00000268874.2	C	NM_014329	-		67914702	1	no_errors	ENST00000358933	ensembl	human	known	74_37	silent	SNP	0.987	T	T	67914702	C	T	67914702	2	4	196	1	0	0	0	0	0	0	0	1	4910	610	22	2		2	EDC4	16	67914702	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1064	67914702	22440051	1784	15056											
SMPD3	55512	genome.wustl.edu	37	chr16	68405671	68405671	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaggttgttgaccctggcGagtgagtcgggcaggaggca	17	7	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:68405671G>A	ENST00000219334.5	-	3	1017	c.414C>T	c.(412-414)ctC>ctT	p.L138L	SMPD3_ENST00000563226.1_Silent_p.L138L|SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.L138L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	138					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGACCCTGGCGAGTGAGTCGG	0.612																																																	0								ENSG00000103056						17	20	19					16																	68405671		2197	4299	6496	SMPD3	SO:0001819	synonymous_variant	0			-	HGNC	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.414C>T	16.37:g.68405671G>A		Somatic	0	73	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	B7ZL82|Q2M1S8	Silent	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L138	ENST00000219334.5	37	c.414	CCDS10867.1	16																																																																																			-	NULL		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	protein_coding	OTTHUMT00000268895.3	G	NM_018667	-		68405671	-1	no_errors	ENST00000219334	ensembl	human	known	74_37	silent	SNP	0.988	A	A	68405671	G	A	68405671	2	1	196	1	0	0	0	0	0	0	0	1	14814	1045	37	1		1	SMPD3	16	68405671	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	490969	68405671	21949082	1785	15057											
NFAT5	10725	genome.wustl.edu	37	chr16	69726553	69726553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcaactgcttcagcaaatgGaaaccttcagcaatcgccag	7	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:69726553G>T	ENST00000354436.2	+	12	3089	c.2771G>T	c.(2770-2772)gGa>gTa	p.G924V	NFAT5_ENST00000349945.1_Missense_Mutation_p.G848V|NFAT5_ENST00000393742.2_Missense_Mutation_p.G848V|NFAT5_ENST00000567239.1_Missense_Mutation_p.G941V|NFAT5_ENST00000432919.1_Missense_Mutation_p.G942V|NFAT5_ENST00000566899.1_Missense_Mutation_p.G848V	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	924					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCAGCAAATGGAAACCTTCAG	0.453																																																	0								ENSG00000102908						98	90	93					16																	69726553		2198	4300	6498	NFAT5	SO:0001583	missense	0			-	HGNC	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2771G>T	16.37:g.69726553G>T	ENSP00000346420:p.Gly924Val	Somatic	0	44	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.G942V	ENST00000354436.2	37	c.2825	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495978	0.44352	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.58210	0.36;0.35;0.35;0.35	5.49	5.49	0.81192	.	0.387908	0.29034	N	0.013353	T	0.58133	0.2101	L	0.54323	1.7	0.80722	D	1	D;D;D	0.60575	0.988;0.987;0.987	P;P;P	0.51016	0.534;0.656;0.656	T	0.56177	-0.8022	10	0.39692	T	0.17	-1.9062	15.2495	0.73532	0.0:0.1399:0.8601:0.0	.	941;924;942	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	V	942;941;848;924;848	ENSP00000396538:G942V;ENSP00000338806:G848V;ENSP00000346420:G924V;ENSP00000377343:G848V	ENSP00000338806:G848V	G	+	2	0	NFAT5	68284054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.151000	0.58105	2.734000	0.93682	0.655000	0.94253	GGA	-	NULL		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	protein_coding	OTTHUMT00000268952.2	G	NM_138714	-		69726553	1	no_errors	ENST00000432919	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69726553	G	T	69726553	3	4	196	1	0	0	0	0	1	0	0	0	10362	1174	41	3	2875	3	NFAT5	16	69726553	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1320882	69726553	20628200	1786	15058											
CLEC18C	283971	genome.wustl.edu	37	chr16	70208238	70208238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggctgtgctcctggcCctccttggcaccgcctgggc	12	18	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:70208238C>T	ENST00000569347.2	+	1	311	c.57C>T	c.(55-57)gcC>gcT	p.A19A	CLEC18C_ENST00000314151.8_Silent_p.A19A|RP11-296I10.3_ENST00000502126.1_RNA|CLEC18C_ENST00000536907.2_Silent_p.A19A|CLEC18C_ENST00000541793.2_Silent_p.A19A|RP11-296I10.3_ENST00000566989.1_RNA	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	19						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						TGCTCCTGGCCCTCCTTGGCA	0.682																																																	0								ENSG00000157335						1	1	1					16																	70208238		230	592	822	CLEC18C	SO:0001819	synonymous_variant	0			-	HGNC	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"C-type lectin domain containing"	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.57C>T	16.37:g.70208238C>T		Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	39.39	Q8IUW8	Silent	SNP							pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A19	ENST00000569347.2	37	c.57	CCDS32473.1	16																																																																																			-	NULL		0.682	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18C	protein_coding	OTTHUMT00000434588.2	C	NM_173619	-		70208238	1	no_errors	ENST00000314151	ensembl	human	known	74_37	silent	SNP	0.974	T	T	70208238	C	T	70208238	2	4	196	1	0	0	0	0	0	0	0	1	3506	610	22	2		2	CLEC18C	16	70208238	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	481685	70208238	20146515	1787	15059											
HYDIN	54768	genome.wustl.edu	37	chr16	70942261	70942261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtttggtcaaagttccCgaactcatcagaagagaagt	10	7	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:70942261C>T	ENST00000393567.2	-	49	8440	c.8290G>A	c.(8290-8292)Ggg>Agg	p.G2764R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2764					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)				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)				TCAAAGTTCCCGAACTCATCA	0.488																																																	0								ENSG00000157423						11	10	10					16																	70942261		1777	4015	5792	HYDIN	SO:0001583	missense	0			-	HGNC	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.8290G>A	16.37:g.70942261C>T	ENSP00000377197:p.Gly2764Arg	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	32	52.24	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.G2764R	ENST00000393567.2	37	c.8290	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199005	0.58126	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.32515	1.45	5.39	4.45	0.53987	.	0.000000	0.33553	U	0.004784	T	0.57257	0.2041	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63883	-0.6536	10	0.87932	D	0	.	13.8149	0.63285	0.0:0.9253:0.0:0.0747	.	2763	F8WD23	.	R	2764;2763	ENSP00000377197:G2764R	ENSP00000313052:G2763R	G	-	1	0	HYDIN	69499762	1.000000	0.71417	0.156000	0.22583	0.035000	0.12851	5.850000	0.69473	1.296000	0.44742	0.603000	0.83216	GGG	-	NULL		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C		-		70942261	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.972	T	T	70942261	C	T	70942261	3	4	196	1	0	0	0	0	1	0	0	0	7469	652	23	1	7227	1	HYDIN	16	70942261	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	734023	70942261	19412492	1788	15060											
HYDIN	54768	genome.wustl.edu	37	chr16	70977834	70977834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggatgggccccggggGgagagggctggaggaaatct	22	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:70977834G>A	ENST00000393567.2	-	42	6700	c.6550C>T	c.(6550-6552)Ccc>Tcc	p.P2184S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2184					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)				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)				GGCCCCGGGGGGAGAGGGCTG	0.577																																																	0								ENSG00000157423						28	31	30					16																	70977834		1969	4158	6127	HYDIN	SO:0001583	missense	0			-	HGNC	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.6550C>T	16.37:g.70977834G>A	ENSP00000377197:p.Pro2184Ser	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_PapD-like	p.P2184S	ENST00000393567.2	37	c.6550	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	g	7.065	0.567169	0.13560	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00864	5.6	5.04	1.7	0.24286	.	0.246545	0.20112	U	0.098996	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.46233	-0.9206	10	0.30078	T	0.28	.	3.6373	0.08154	0.151:0.1324:0.5801:0.1365	.	2183	F8WD23	.	S	2184;2183	ENSP00000377197:P2184S	ENSP00000313052:P2183S	P	-	1	0	HYDIN	69535335	0.009000	0.17119	0.297000	0.24988	0.232000	0.25224	1.128000	0.31369	0.601000	0.29879	0.543000	0.68304	CCC	-	superfamily_P-loop_NTPase		0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G		-		70977834	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.179	A	A	70977834	G	A	70977834	3	1	196	1	0	0	0	0	1	0	0	0	7469	1232	43	2	8995	2	HYDIN	16	70977834	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	35573	70977834	19376919	1789	15061											
ZFHX3	463	genome.wustl.edu	37	chr16	72822522	72822522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgtggtgtgggtggcGgctgggctgctggcggcggg	25	7	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:72822522G>A	ENST00000268489.5	-	10	10325	c.9653C>T	c.(9652-9654)cCg>cTg	p.P3218L	RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2304L|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3218					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)			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)				TGTGGGTGGCGGCTGGGCTGC	0.622																																																	0								ENSG00000140836						117	127	124					16																	72822522		2198	4300	6498	ZFHX3	SO:0001583	missense	0			-	HGNC	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.9653C>T	16.37:g.72822522G>A	ENSP00000268489:p.Pro3218Leu	Somatic	0	29	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	12	60.00	D3DWS8|O15101|Q13719	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P3218L	ENST00000268489.5	37	c.9653	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	7.691	0.690992	0.15039	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.82	5.7	3.58	0.41010	.	0.479206	0.15570	N	0.255505	T	0.77942	0.4206	L	0.34521	1.04	0.31897	N	0.616448	D	0.89917	1.0	D	0.74023	0.982	T	0.78620	-0.2133	10	0.72032	D	0.01	.	10.4587	0.44565	0.0:0.0:0.6321:0.3679	.	3218	Q15911	ZFHX3_HUMAN	L	3218;2304	ENSP00000268489:P3218L;ENSP00000438926:P2304L	ENSP00000268489:P3218L	P	-	2	0	ZFHX3	71380023	0.839000	0.29477	0.872000	0.34217	0.534000	0.34807	1.625000	0.37029	1.346000	0.45694	0.557000	0.71058	CCG	-	NULL		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	G	NM_006885	-		72822522	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	SNP	0.823	A	A	72822522	G	A	72822522	3	1	196	1	0	0	0	0	1	0	0	0	17641	1116	39	1	1462	1	ZFHX3	16	72822522	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1844688	72822522	17532231	1790	15062											
TMEM231	79583	genome.wustl.edu	37	chr16	75579824	75579824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtaacatgtccgtcttcCcatcctggttcctgtcttct	6	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:75579824C>T	ENST00000258173.6	-	3	414	c.338G>A	c.(337-339)gGg>gAg	p.G113E	RP11-77K12.8_ENST00000564489.1_RNA|RP11-77K12.7_ENST00000460606.1_5'Flank|TMEM231_ENST00000568377.1_Missense_Mutation_p.G142E|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000565067.1_Missense_Mutation_p.G113E	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	113					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						GTCCGTCTTCCCATCCTGGTT	0.507																																																	0								ENSG00000205084						8	7	8					16																	75579824		1781	3996	5777	TMEM231	SO:0001583	missense	0			-	HGNC		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.338G>A	16.37:g.75579824C>T	ENSP00000258173:p.Gly113Glu	Somatic	0	45	0		0.52429534266604	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP							pfam_TMEM231	p.G142E	ENST00000258173.6	37	c.425	CCDS45530.1	16	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227372	0.79576	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.67523	-0.27;-0.27	3.94	3.94	0.45596	.	0.100273	0.64402	D	0.000002	D	0.82393	0.5027	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86013	0.1502	10	0.87932	D	0	-25.8343	15.4423	0.75195	0.0:1.0:0.0:0.0	.	142;113;142	B3KU85;Q9H6L2;G5E9E3	.;TM231_HUMAN;.	E	113;142	ENSP00000258173:G113E;ENSP00000381184:G142E	ENSP00000258173:G113E	G	-	2	0	TMEM231	74137325	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.967000	0.76079	2.146000	0.66826	0.460000	0.39030	GGG	-	pfam_TMEM231		0.507	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM231	protein_coding	OTTHUMT00000435481.2	C	NM_001077416	-		75579824	-1	no_errors	ENST00000568377	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75579824	C	T	75579824	3	4	196	1	0	0	0	0	1	0	0	0	16156	623	22	2	632	2	TMEM231	16	75579824	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2757302	75579824	14774929	1791	15063											
DYNLRB2	83657	genome.wustl.edu	37	chr16	80583535	80583535	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatcaaagaaacatgaaatCatggtagctccaggtaattt	8	6	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:80583535C>T	ENST00000305904.6	+	3	354	c.234C>T	c.(232-234)atC>atT	p.I78I	DYNLRB2_ENST00000562982.1_Silent_p.I107I|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Intron|RP11-525K10.3_ENST00000568776.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	78					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			large_intestine(1)|lung(4)|prostate(1)	6						AACATGAAATCATGGTAGCTC	0.353																																																	0								ENSG00000168589						104	104	104					16																	80583535		2203	4300	6503	DYNLRB2	SO:0001819	synonymous_variant	0			-	HGNC	AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"Cytoplasmic dyneins"	15467	protein-coding gene	gene with protein product	"roadblock domain containing 2"	607168	"dynein, cytoplasmic, light polypeptide 2B"	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.234C>T	16.37:g.80583535C>T		Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34		Silent	SNP							pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type	p.I78	ENST00000305904.6	37	c.234	CCDS10929.1	16																																																																																			-	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type		0.353	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB2	protein_coding	OTTHUMT00000269043.1	C	NM_130897	-		80583535	1	no_errors	ENST00000305904	ensembl	human	known	74_37	silent	SNP	1.000	T	T	80583535	C	T	80583535	2	4	196	1	0	0	0	0	0	0	0	1	4853	816	29	2		2	DYNLRB2	16	80583535	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5003711	80583535	9771218	1792	15064											
ZDHHC7	55625	genome.wustl.edu	37	chr16	85010006	85010006	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggcagtcgcctaaatcgGaagcccacaaagggattcat	12	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85010006G>A	ENST00000313732.4	-	8	1222	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ZDHHC7_ENST00000569488.1_5'Flank|ZDHHC7_ENST00000564466.1_Silent_p.F327F	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	290					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GCCTAAATCGGAAGCCCACAA	0.582																																																	0								ENSG00000153786						56	66	63					16																	85010006		2199	4300	6499	ZDHHC7	SO:0001819	synonymous_variant	0			-	HGNC	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.870C>T	16.37:g.85010006G>A		Somatic	0	24	0		0.52429534266604	11	57.69	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	9	66.67	D3DUM1|Q8WV42|Q9NVD8	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.F327	ENST00000313732.4	37	c.981	CCDS10950.1	16																																																																																			-	NULL		0.582	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	protein_coding	OTTHUMT00000269087.1	G	NM_017740	-		85010006	-1	no_errors	ENST00000344861	ensembl	human	known	74_37	silent	SNP	0.991	A	A	85010006	G	A	85010006	2	1	196	1	0	0	0	0	0	0	0	1	17627	1165	41	2		2	ZDHHC7	16	85010006	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4426471	85010006	5344747	1793	15065											
KIAA0513	9764	genome.wustl.edu	37	chr16	85112038	85112038	+	Missense_Mutation	SNP	C	C	T													cagggaagacgagaacaaacCccaggagaagcggcccaggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85112038C>T	ENST00000566428.1	+	7	1431	c.800C>T	c.(799-801)cCc>cTc	p.P267L	KIAA0513_ENST00000258180.3_Missense_Mutation_p.P267L|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P267L|KIAA0513_ENST00000538274.1_Missense_Mutation_p.P267L			O60268	K0513_HUMAN	KIAA0513	267						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GAGAACAAACCCCAGGAGAAG	0.592																																																	0								ENSG00000135709						55	54	54					16																	85112038		2198	4300	6498	KIAA0513	SO:0001583	missense	0			-	HGNC	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.800C>T	16.37:g.85112038C>T	ENSP00000457408:p.Pro267Leu	Somatic	0	17	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP							pfam_SBF2	p.P267L	ENST00000566428.1	37	c.800	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822810	0.32237	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.37411	1.2;1.2	4.97	4.97	0.65823	.	0.421176	0.26522	N	0.023902	T	0.28433	0.0703	L	0.27053	0.805	0.49389	D	0.999785	B;B	0.27416	0.178;0.049	B;B	0.24394	0.053;0.024	T	0.11542	-1.0583	10	0.72032	D	0.01	-18.9898	15.3237	0.74144	0.0:1.0:0.0:0.0	.	267;267	B4DSS5;O60268	.;K0513_HUMAN	L	267	ENSP00000446439:P267L;ENSP00000258180:P267L	ENSP00000258180:P267L	P	+	2	0	KIAA0513	83669539	0.005000	0.15991	0.964000	0.40570	0.110000	0.19582	1.209000	0.32357	2.447000	0.82792	0.561000	0.74099	CCC	-	NULL		0.592	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	protein_coding	OTTHUMT00000432736.1	C	NM_014732	-		85112038	1	no_errors	ENST00000258180	ensembl	human	known	74_37	missense	SNP	0.997	T	T	85112038	C	T	85112038	3	4	196	1	0	0	0	0	1	0	0	0	8183	623	22	2	822	2	KIAA0513	16	85112038	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	102032	85112038	5242715	1794	15066	338	2									
KIAA0513	9764	genome.wustl.edu	37	chr16	85112039	85112039	+	Silent	SNP	C	C	T													agggaagacgagaacaaaccCcaggagaagcggcccagggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85112039C>T	ENST00000566428.1	+	7	1432	c.801C>T	c.(799-801)ccC>ccT	p.P267P	KIAA0513_ENST00000258180.3_Silent_p.P267P|KIAA0513_ENST00000567328.1_Silent_p.P267P|KIAA0513_ENST00000538274.1_Silent_p.P267P			O60268	K0513_HUMAN	KIAA0513	267						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGAACAAACCCCAGGAGAAGC	0.587																																																	0								ENSG00000135709						54	52	53					16																	85112039		2198	4300	6498	KIAA0513	SO:0001819	synonymous_variant	0			-	HGNC	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.801C>T	16.37:g.85112039C>T		Somatic	0	16	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	B4DSS5|D3DUM2|Q8N6G0	Silent	SNP							pfam_SBF2	p.P267	ENST00000566428.1	37	c.801	CCDS32499.1	16																																																																																			-	NULL		0.587	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	protein_coding	OTTHUMT00000432736.1	C	NM_014732	-		85112039	1	no_errors	ENST00000258180	ensembl	human	known	74_37	silent	SNP	0.999	T	T	85112039	C	T	85112039	2	4	196	1	0	0	0	0	0	0	0	1	8183	610	22	2		2	KIAA0513	16	85112039	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	85112039	5242714	1795	15067	338	2									
RNMTL1	51031	genome.wustl.edu	37	chr17	685779	685779	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaacagaagcgcgctcCtgggaagcagccccgcaagg	16	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:685779C>T	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Missense_Mutation_p.P54L|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGCGCGCTCCTGGGAAGCAG	0.667																																																	0								ENSG00000171861						33	36	35					17																	685779		2203	4300	6503	RNMTL1	SO:0001631	upstream_gene_variant	0			-	HGNC	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685779C>T	Exception_encountered	Somatic	0	30	0		0.52429534266604	24	22.58	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP							pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.P54L	ENST00000301328.5	37	c.161		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399925|3.399925	0.62177|0.62177	.|.	.|.	ENSG00000167699|ENSG00000171861	ENST00000397393|ENST00000304478	.|T	.|0.20598	.|2.06	5.14|5.14	4.16|4.16	0.48862|0.48862	.|.	.|0.943166	.|0.08900	.|N	.|0.877367	T|T	0.24774|0.24774	0.0601|0.0601	M|M	0.62723|0.62723	1.935|1.935	0.19775|0.19775	N|N	0.999959|0.999959	.|B	.|0.29341	.|0.242	.|B	.|0.27380	.|0.079	T|T	0.19976|0.19976	-1.0289|-1.0289	6|10	0.87932|0.27082	D|T	0|0.32	.|.	12.1474|12.1474	0.54031|0.54031	0.0:0.8279:0.1721:0.0|0.0:0.8279:0.1721:0.0	.|.	.|54	.|Q9HC36	.|RMTL1_HUMAN	R|L	112|54	.|ENSP00000306080:P54L	ENSP00000380548:G112R|ENSP00000306080:P54L	G|P	-|+	1|2	0|0	GLOD4|RNMTL1	632529|632529	0.138000|0.138000	0.22547|0.22547	0.005000|0.005000	0.12908|0.12908	0.455000|0.455000	0.32408|0.32408	2.854000|2.854000	0.48325|0.48325	1.282000|1.282000	0.44496|0.44496	0.563000|0.563000	0.77884|0.77884	GGA|CCT	-	NULL		0.667	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	protein_coding	OTTHUMT00000437190.1	C	NM_016080	-		685779	1	no_errors	ENST00000304478	ensembl	human	known	74_37	missense	SNP	0.019	T	T	685779	C	T	685779	1	4	196	0	1	0	0	0	0	0	0	0	13515	681	24	2		2	RNMTL1	17	685779	5'Flank	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		685779	80509431	1796	15068											
SCARF1	8578	genome.wustl.edu	37	chr17	1538895	1538895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgacgaccctgcctgGgccacagggaccatccctgg	12	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1538895G>A	ENST00000263071.4	-	11	1699	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	SCARF1_ENST00000348987.3_Silent_p.A464A|SCARF1_ENST00000571272.1_Missense_Mutation_p.P538L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	550	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCTGCCTGGGCCACAGGGA	0.652																																																	0								ENSG00000074660						17	19	19					17																	1538895		2168	4253	6421	SCARF1	SO:0001819	synonymous_variant	0			-	HGNC	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1650C>T	17.37:g.1538895G>A		Somatic	0	25	0		0.52429534266604	43	2.27	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P538L	ENST00000263071.4	37	c.1613	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	3.174	-0.169448	0.06461	.	.	ENSG00000074660	ENST00000434376	.	.	.	5.21	0.175	0.15045	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.20739	-1.0266	7	0.46703	T	0.11	-1.0089	3.6985	0.08374	0.1639:0.1231:0.5708:0.1422	.	538	Q14162-3	.	L	538	.	ENSP00000411167:P538L	P	-	2	0	SCARF1	1485645	0.002000	0.14202	0.052000	0.19188	0.231000	0.25187	0.363000	0.20301	0.181000	0.19994	0.555000	0.69702	CCC	-	NULL		0.652	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	protein_coding	OTTHUMT00000207081.4	G	NM_003693	-		1538895	-1	no_errors	ENST00000571272	ensembl	human	known	74_37	missense	SNP	0.000	A	A	1538895	G	A	1538895	2	1	196	1	0	0	0	0	0	0	0	1	13891	1232	43	2		2	SCARF1	17	1538895	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	853116	1538895	79656315	1797	15069											
PRPF8	10594	genome.wustl.edu	37	chr17	1557276	1557276	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacccaggatgatgtctcGaatttctgattgtgtcagtg	10	8	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1557276G>A	ENST00000572621.1	-	37	6287	c.6022C>T	c.(6022-6024)Cga>Tga	p.R2008*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R2008*|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2008	Involved in interaction with pre-mRNA 5' splice site.|RNase H 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)			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)		ATGATGTCTCGAATTTCTGAT	0.527																																																	0								ENSG00000174231						293	245	262					17																	1557276		2203	4300	6503	PRPF8	SO:0001587	stop_gained	0			-	HGNC	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.6022C>T	17.37:g.1557276G>A	ENSP00000460348:p.Arg2008*	Somatic	0	37	0		0.52429534266604	337	7.42	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	O14547|O75965	Nonsense_Mutation	SNP							pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.R2008*	ENST00000572621.1	37	c.6022	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	49	15.104720	0.99822	.	.	ENSG00000174231	ENST00000304992	.	.	.	6.17	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.01	13.5788	0.61890	0.0:0.0:0.5917:0.4083	.	.	.	.	X	2008	.	ENSP00000304350:R2008X	R	-	1	2	PRPF8	1504026	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.070000	0.50033	0.865000	0.35603	0.655000	0.94253	CGA	-	NULL		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	G		-		1557276	-1	no_errors	ENST00000304992	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	1557276	G	A	1557276	4	1	196	1	0	0	0	0	0	1	0	0	12580	1066	37	1	1009	1	PRPF8	17	1557276	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	18381	1557276	79637934	1798	15070											
SMYD4	114826	genome.wustl.edu	37	chr17	1704154	1704154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggaggacatctgctagGgctggtgtggctgtgaagtt	18	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1704154G>A	ENST00000305513.7	-	5	701	c.534C>T	c.(532-534)gcC>gcT	p.A178A		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	178							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATCTGCTAGGGCTGGTGTGG	0.507																																																	0								ENSG00000186532						172	165	168					17																	1704154		2203	4300	6503	SMYD4	SO:0001819	synonymous_variant	0			-	HGNC	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.534C>T	17.37:g.1704154G>A		Somatic	0	44	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.33	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP							pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.A178	ENST00000305513.7	37	c.534	CCDS11013.1	17																																																																																			-	NULL		0.507	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	protein_coding	OTTHUMT00000207108.4	G	XM_056082	-		1704154	-1	no_errors	ENST00000305513	ensembl	human	known	74_37	silent	SNP	0.000	A	A	1704154	G	A	1704154	2	1	196	1	0	0	0	0	0	0	0	1	14832	1219	43	2		2	SMYD4	17	1704154	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	146878	1704154	79491056	1799	15071											
HIC1	3090	genome.wustl.edu	37	chr17	1961396	1961396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccttttggaggcggcgGggacaaggtcgccggggctc	18	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1961396G>A	ENST00000322941.3	+	2	1469	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.G471E	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	490					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GGAGGCGGCGGGGACAAGGTC	0.741																																																	0								ENSG00000177374						5	7	6					17																	1961396		1853	3927	5780	HIC1	SO:0001583	missense	0			-	HGNC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1469G>A	17.37:g.1961396G>A	ENSP00000314080:p.Gly490Glu	Somatic	0	21	0		0.52429534266604	32	50	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	D3DTI4	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G490E	ENST00000322941.3	37	c.1469	CCDS42229.1	17	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551274	0.27739	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.07216	3.27;3.21	3.52	3.52	0.40303	.	0.851483	0.09562	N	0.785438	T	0.04634	0.0126	N	0.08118	0	0.37995	D	0.934046	B	0.27351	0.176	B	0.19666	0.026	T	0.41233	-0.9520	10	0.21014	T	0.42	.	10.7466	0.46183	0.0:0.0:1.0:0.0	.	490	Q14526	HIC1_HUMAN	E	471;490	ENSP00000382742:G471E;ENSP00000314080:G490E	ENSP00000314080:G490E	G	+	2	0	HIC1	1908146	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.459000	0.53021	1.979000	0.57680	0.407000	0.27541	GGG	-	NULL		0.741	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC1	protein_coding	OTTHUMT00000438878.1	G	NM_006497	-		1961396	1	no_errors	ENST00000322941	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1961396	G	A	1961396	3	1	196	1	0	0	0	0	1	0	0	0	7103	1232	43	2	1475	2	HIC1	17	1961396	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	257242	1961396	79233814	1800	15072											
SMG6	23293	genome.wustl.edu	37	chr17	2075957	2075957	+	Missense_Mutation	SNP	C	C	A													tggcctggggctgaccttatCcgaggttttctccacgtagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:2075957C>A	ENST00000263073.6	-	13	3402	c.3352G>T	c.(3352-3354)Gat>Tat	p.D1118Y	SMG6_ENST00000354901.4_Missense_Mutation_p.D210Y|SMG6_ENST00000544865.1_Missense_Mutation_p.D1087Y|SMG6_ENST00000536871.2_Missense_Mutation_p.D210Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1118					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGACCTTATCCGAGGTTTTC	0.527																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						69	67	68					17																	2075957		2203	4300	6503	SMG6	SO:0001583	missense	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3352G>T	17.37:g.2075957C>A	ENSP00000263073:p.Asp1118Tyr	Somatic	0	94	0		0.52429534266604	6	50	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	88	55	61.54	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP							pfam_EST1,smart_PIN_dom	p.D1118Y	ENST00000263073.6	37	c.3352	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885963	0.72410	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.23950	1.88;1.88;1.88	6.02	6.02	0.97574	.	0.118434	0.56097	D	0.000036	T	0.31765	0.0807	L	0.27053	0.805	0.58432	D	0.999994	P	0.44380	0.834	P	0.49752	0.621	T	0.01702	-1.1292	10	0.72032	D	0.01	-4.6251	18.719	0.91686	0.0:1.0:0.0:0.0	.	1118	Q86US8	EST1A_HUMAN	Y	1118;1087;210	ENSP00000263073:D1118Y;ENSP00000443920:D1087Y;ENSP00000440283:D210Y	ENSP00000263073:D1118Y	D	-	1	0	SMG6	2022707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.711000	0.54868	2.863000	0.98299	0.549000	0.68633	GAT	-	NULL		0.527	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	C		-		2075957	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2075957	C	A	2075957	3	1	196	1	0	0	0	0	1	0	0	0	14805	855	30	3	935	3	SMG6	17	2075957	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	114561	2075957	79119253	1801	15073	339	2									
SMG6	23293	genome.wustl.edu	37	chr17	2075958	2075958	+	Silent	SNP	C	C	T													ggcctggggctgaccttatcCgaggttttctccacgtagca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:2075958C>T	ENST00000263073.6	-	13	3401	c.3351G>A	c.(3349-3351)tcG>tcA	p.S1117S	SMG6_ENST00000354901.4_Silent_p.S209S|SMG6_ENST00000544865.1_Silent_p.S1086S|SMG6_ENST00000536871.2_Silent_p.S209S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1117					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGACCTTATCCGAGGTTTTCT	0.527																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						70	68	68					17																	2075958		2203	4300	6503	SMG6	SO:0001819	synonymous_variant	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3351G>A	17.37:g.2075958C>T		Somatic	0	95	0		0.52429534266604	6	50	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	88	56	61.11	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP							pfam_EST1,smart_PIN_dom	p.S1117	ENST00000263073.6	37	c.3351	CCDS11016.1	17																																																																																			-	NULL		0.527	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	C		-		2075958	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2075958	C	T	2075958	2	4	196	1	0	0	0	0	0	0	0	1	14805	639	23	1		1	SMG6	17	2075958	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	2075958	79119252	1802	15074	339	2									
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2921430	2921430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgcacagtgggggcatcCctggcagcctcagcgggggc	17	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:2921430C>T	ENST00000254695.8	+	18	1660	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P505S|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P509S|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P524S	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	524					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGGGGCATCCCTGGCAGCCT	0.662																																																	0								ENSG00000132359						16	19	18					17																	2921430		2087	4218	6305	RAP1GAP2	SO:0001583	missense	0			-	HGNC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1570C>T	17.37:g.2921430C>T	ENSP00000254695:p.Pro524Ser	Somatic	0	65	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	89	32.58	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP							pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.P524S	ENST00000254695.8	37	c.1570	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145234	0.06627	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.89681	-2.53;-2.5;-2.55;-2.53	4.66	4.66	0.58398	.	0.149219	0.64402	D	0.000008	T	0.76154	0.3948	N	0.16656	0.425	0.58432	D	0.999998	B;B	0.19200	0.034;0.02	B;B	0.18263	0.021;0.009	T	0.68481	-0.5397	10	0.02654	T	1	-15.1478	10.5585	0.45131	0.0:0.9104:0.0:0.0896	.	509;524	Q684P5-2;Q684P5	.;RPGP2_HUMAN	S	524;509;505;524	ENSP00000254695:P524S;ENSP00000389824:P509S;ENSP00000439688:P505S;ENSP00000444890:P524S	ENSP00000254695:P524S	P	+	1	0	RAP1GAP2	2868180	1.000000	0.71417	0.417000	0.26559	0.314000	0.28054	4.562000	0.60816	2.320000	0.78422	0.462000	0.41574	CCT	-	NULL		0.662	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	protein_coding	OTTHUMT00000438208.2	C		-		2921430	1	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2921430	C	T	2921430	3	4	196	1	0	0	0	0	1	0	0	0	13046	623	22	2	1640	2	RAP1GAP2	17	2921430	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	845472	2921430	78273780	1803	15075											
OR1A2	26189	genome.wustl.edu	37	chr17	3101036	3101036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttgacatcatcttctcatCcgtaaccatccctaaggtgc	7	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3101036C>T	ENST00000381951.1	+	1	224	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	75					positive regulation of cytokinesis (GO:0032467)	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(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATCTTCTCATCCGTAACCATC	0.488																																																	0								ENSG00000172150						230	194	206					17																	3101036		2203	4300	6503	OR1A2	SO:0001583	missense	0			-	HGNC	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.224C>T	17.37:g.3101036C>T	ENSP00000371377:p.Ser75Phe	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.59	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75F	ENST00000381951.1	37	c.224	CCDS11021.1	17	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219680	0.39201	.	.	ENSG00000172150	ENST00000381951	T	0.00408	7.54	4.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000159	T	0.01189	0.0039	M	0.82517	2.595	0.33002	D	0.526424	D	0.89917	1.0	D	0.91635	0.999	T	0.36383	-0.9750	10	0.72032	D	0.01	.	12.744	0.57270	0.0:0.8329:0.167:0.0	.	75	Q9Y585	OR1A2_HUMAN	F	75	ENSP00000371377:S75F	ENSP00000371377:S75F	S	+	2	0	OR1A2	3047786	0.011000	0.17503	0.923000	0.36655	0.016000	0.09150	2.560000	0.45896	1.042000	0.40150	0.603000	0.83216	TCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	protein_coding	OTTHUMT00000207293.1	C	NM_012352	-		3101036	1	no_errors	ENST00000381951	ensembl	human	known	74_37	missense	SNP	0.934	T	T	3101036	C	T	3101036	3	4	196	1	0	0	0	0	1	0	0	0	10952	855	30	2	226	2	OR1A2	17	3101036	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	179606	3101036	78094174	1804	15076											
ASPA	443	genome.wustl.edu	37	chr17	3386821	3386821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctccactaccctgctacgTttatctgattgagcatcctt	7	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3386821T>C	ENST00000263080.2	+	3	619	c.461T>C	c.(460-462)gTt>gCt	p.V154A	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.V154A	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	154					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCCTGCTACGTTTATCTGATT	0.403																																																	0								ENSG00000108381						178	158	165					17																	3386821		2203	4300	6503	ASPA	SO:0001583	missense	0			-	HGNC	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.461T>C	17.37:g.3386821T>C	ENSP00000263080:p.Val154Ala	Somatic	0	49	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	35	45.31		Missense_Mutation	SNP							pfam_Aste_AspA,pirsf_Aspartoacylase	p.V154A	ENST00000263080.2	37	c.461	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	t	11.13	1.547442	0.27652	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97710	-4.5;-4.5	5.41	5.41	0.78517	.	0.226116	0.44902	D	0.000405	D	0.96651	0.8907	M	0.79475	2.455	0.80722	D	1	B	0.19445	0.036	B	0.22601	0.04	D	0.94804	0.7973	10	0.62326	D	0.03	-18.2072	10.9328	0.47228	0.0:0.0757:0.0:0.9243	.	154	P45381	ACY2_HUMAN	A	154	ENSP00000409976:V154A;ENSP00000263080:V154A	ENSP00000263080:V154A	V	+	2	0	ASPA	3333571	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.752000	0.62176	2.198000	0.70561	0.533000	0.62120	GTT	-	pfam_Aste_AspA,pirsf_Aspartoacylase		0.403	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	protein_coding	OTTHUMT00000207315.1	T	NM_000049	-		3386821	1	no_errors	ENST00000263080	ensembl	human	known	74_37	missense	SNP	1.000	C	C	3386821	T	C	3386821	3	2	196	1	0	0	0	0	1	0	0	0	1050	1725	60	5	471	5	ASPA	17	3386821	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	285785	3386821	77808389	1805	15077											
CTNS	1497	genome.wustl.edu	37	chr17	3552211	3552211	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaaaatattactatccttGagctccccgatgaagtaagt	6	10	0	2	rs113994204		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3552211G>A	ENST00000046640.3	+	5	804	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Missense_Mutation_p.E71K|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Missense_Mutation_p.E71K	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	71			Missing (in CTNSJAN). {ECO:0000269|PubMed:9792862}.		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TACTATCCTTGAGCTCCCCGA	0.418																																																	0								ENSG00000040531						133	114	121					17																	3552211		2203	4300	6503	CTNS	SO:0001583	missense	0			-	HGNC	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.211G>A	17.37:g.3552211G>A	ENSP00000046640:p.Glu71Lys	Somatic	0	45	0		0.52429534266604	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP							smart_CTNS,tigrfam_LC_transporter	p.E71K	ENST00000046640.3	37	c.211	CCDS11031.1	17	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081433	0.55753	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000452111;ENST00000399306	D;D;T;T	0.95482	-3.7;-3.72;0.86;0.86	5.06	0.657	0.17850	.	0.871146	0.10398	N	0.679597	D	0.90957	0.7157	L	0.50333	1.59	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.78768	-0.2075	10	0.08381	T	0.77	-0.5161	7.6499	0.28342	0.1484:0.4115:0.4401:0.0	.	71;71	O60931;O60931-2	CTNS_HUMAN;.	K	71	ENSP00000046640:E71K;ENSP00000371294:E71K;ENSP00000408652:E71K;ENSP00000382245:E71K	ENSP00000046640:E71K	E	+	1	0	CTNS	3498960	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	1.042000	0.30303	0.077000	0.16863	0.655000	0.94253	GAG	-	NULL		0.418	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	protein_coding	OTTHUMT00000317696.1	G	NM_004937	-		3552211	1	no_errors	ENST00000381870	ensembl	human	known	74_37	missense	SNP	0.997	A	A	3552211	G	A	3552211	3	1	196	1	0	0	0	0	1	0	0	0	4023	1291	45	2	221	2	CTNS	17	3552211	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	165390	3552211	77642999	1806	15078											
CAMKK1	84254	genome.wustl.edu	37	chr17	3785649	3785649	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctaactggatattctggGcctggttctgcagggctggg	14	8	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3785649G>A	ENST00000348335.2	-	7	834				CAMKK1_ENST00000158166.5_Missense_Mutation_p.A234V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A234V|CAMKK1_ENST00000381769.2_Intron	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)		GATATTCTGGGCCTGGTTCTG	0.562																																																	0								ENSG00000004660						96	93	94					17																	3785649		2203	4300	6503	CAMKK1	SO:0001627	intron_variant	0			-	HGNC	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+172C>T	17.37:g.3785649G>A		Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	Q9BQH3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A234V	ENST00000348335.2	37	c.701	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	G	5.416	0.261888	0.10239	.	.	ENSG00000004660	ENST00000381771;ENST00000158166	T;T	0.74632	-0.86;-0.85	3.82	0.525	0.17072	.	.	.	.	.	T	0.54111	0.1838	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39375	-0.9617	9	0.02654	T	1	0.1625	4.4168	0.11461	0.1124:0.0:0.4635:0.4241	.	234	F8W9H1	.	V	234	ENSP00000371190:A234V;ENSP00000158166:A234V	ENSP00000158166:A234V	A	-	2	0	CAMKK1	3732398	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.451000	0.21779	0.165000	0.19558	0.655000	0.94253	GCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.562	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	protein_coding	OTTHUMT00000207456.1	G	NM_032294, NM_172206, NM_172207	-		3785649	-1	no_errors	ENST00000381771	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3785649	G	A	3785649	1	1	196	0	1	0	0	0	0	0	0	0	2608	1203	42	2		2	CAMKK1	17	3785649	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	233438	3785649	77409561	1807	15079											
ATP2A3	489	genome.wustl.edu	37	chr17	3853882	3853882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcttggtcacggacaCagattcacctggtcagggaa	13	9	3	1	rs370715957		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3853882C>G	ENST00000352011.3	-	7	607	c.553G>C	c.(553-555)Gtg>Ctg	p.V185L	ATP2A3_ENST00000397043.3_Missense_Mutation_p.V185L|ATP2A3_ENST00000309890.7_Missense_Mutation_p.V185L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V185L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V185L|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V185L			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	185					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTCACGGACACAGATTCACCT	0.572																																					GBM(32;29 774 15719 37967)												0								ENSG00000074370						109	101	103					17																	3853882		2203	4300	6503	ATP2A3	SO:0001583	missense	0			-	HGNC		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.553G>C	17.37:g.3853882C>G	ENSP00000301387:p.Val185Leu	Somatic	0	60	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	43	41.89	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.V185L	ENST00000352011.3	37	c.553	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502224	0.44455	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	3.76	3.76	0.43208	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.076990	0.56097	D	0.000033	T	0.80607	0.4655	N	0.25426	0.745	0.58432	D	0.999998	B;B;B;B;B;B	0.13594	0.008;0.006;0.002;0.003;0.001;0.001	B;B;B;B;B;B	0.13407	0.002;0.009;0.003;0.007;0.004;0.004	T	0.76399	-0.2973	10	0.42905	T	0.14	.	9.7082	0.40229	0.0:0.897:0.0:0.103	.	185;185;185;185;185;185	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	L	185	ENSP00000380236:V185L;ENSP00000301387:V185L;ENSP00000353072:V185L;ENSP00000380234:V185L;ENSP00000312577:V185L;ENSP00000380229:V185L	ENSP00000312577:V185L	V	-	1	0	ATP2A3	3800631	0.998000	0.40836	0.996000	0.52242	0.820000	0.46376	3.871000	0.56077	2.382000	0.81193	0.563000	0.77884	GTG	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase		0.572	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	C	NM_174953	-		3853882	-1	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	SNP	1.000	G	G	3853882	C	G	3853882	3	3	196	1	0	0	0	0	1	0	0	0	1138	478	17	4	2717	4	ATP2A3	17	3853882	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	68233	3853882	77341328	1808	15080											
PSMB6	5694	genome.wustl.edu	37	chr17	4701409	4701409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgctacctaccgggaaGgcatgaccaaggaagagtgt	13	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:4701409G>A	ENST00000270586.3	+	5	589	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	180					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTACCGGGAAGGCATGACCAA	0.542																																																	0								ENSG00000142507						109	96	100					17																	4701409		2203	4300	6503	PSMB6	SO:0001583	missense	0			-	HGNC	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.538G>A	17.37:g.4701409G>A	ENSP00000270586:p.Gly180Ser	Somatic	0	37	0		0.52429534266604	1255	17.86	274	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	65	20.73	Q96J55	Missense_Mutation	SNP							pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.G180S	ENST00000270586.3	37	c.538	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611428	0.87258	.	.	ENSG00000142507	ENST00000270586	T	0.34667	1.35	5.03	5.03	0.67393	.	0.116186	0.64402	D	0.000018	T	0.56031	0.1958	M	0.84326	2.69	0.48696	D	0.999693	P	0.50943	0.94	P	0.55161	0.77	T	0.60959	-0.7159	10	0.56958	D	0.05	-27.8743	13.7397	0.62840	0.0:0.0:1.0:0.0	.	180	P28072	PSB6_HUMAN	S	180	ENSP00000270586:G180S	ENSP00000270586:G180S	G	+	1	0	PSMB6	4648367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.938000	0.75904	2.607000	0.88179	0.561000	0.74099	GGC	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB		0.542	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	protein_coding	OTTHUMT00000207559.2	G	NM_002798	-		4701409	1	no_errors	ENST00000270586	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4701409	G	A	4701409	3	1	196	1	0	0	0	0	1	0	0	0	12686	1000	35	2	556	2	PSMB6	17	4701409	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	847527	4701409	76493801	1809	15081											
ZNF232	7775	genome.wustl.edu	37	chr17	5009422	5009422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgctgaccgaggttTgagctctgtttgaaagtttt	11	7	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:5009422T>C	ENST00000250076.3	-	5	1686	c.1032A>G	c.(1030-1032)tcA>tcG	p.S344S	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.S335S	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	317					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GACCGAGGTTTGAGCTCTGTT	0.438																																																	0								ENSG00000167840						113	115	114					17																	5009422		2203	4300	6503	ZNF232	SO:0001819	synonymous_variant	0			-	HGNC	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1032A>G	17.37:g.5009422T>C		Somatic	0	63	0		0.52429534266604	45	49.45	45	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	63	24.10		Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S344	ENST00000250076.3	37	c.1032	CCDS11068.1	17																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	protein_coding	OTTHUMT00000216915.1	T	NM_014519	-		5009422	-1	no_errors	ENST00000250076	ensembl	human	known	74_37	silent	SNP	0.907	C	C	5009422	T	C	5009422	2	2	196	1	0	0	0	0	0	0	0	1	17792	1799	63	5		5	ZNF232	17	5009422	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	308013	5009422	76185788	1810	15082											
NEURL4	84461	genome.wustl.edu	37	chr17	7229606	7229606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagactgaattcgcagtactCccggcgggtgcccttgccat	11	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7229606C>T	ENST00000399464.2	-	6	1276	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	NEURL4_ENST00000570460.1_Missense_Mutation_p.E399K|NEURL4_ENST00000315614.7_Missense_Mutation_p.E421K	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	421	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						TCGCAGTACTCCCGGCGGGTG	0.602																																																	0								ENSG00000215041						57	62	60					17																	7229606		1993	4165	6158	NEURL4	SO:0001583	missense	0			-	HGNC		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.1261G>A	17.37:g.7229606C>T	ENSP00000382390:p.Glu421Lys	Somatic	0	46	0		0.52429534266604	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	44	35.29	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP							pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.E421K	ENST00000399464.2	37	c.1261	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813349	0.90707	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35973	1.28;1.32	4.79	4.79	0.61399	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.65975	2.015	0.53005	D	0.999963	D;D	0.67145	0.996;0.986	D;P	0.65573	0.936;0.898	T	0.54629	-0.8265	10	0.38643	T	0.18	-28.6675	16.7649	0.85521	0.0:1.0:0.0:0.0	.	421;421	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	K	421	ENSP00000319826:E421K;ENSP00000382390:E421K	ENSP00000319826:E421K	E	-	1	0	NEURL4	7170330	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.219000	0.78000	2.500000	0.84329	0.462000	0.41574	GAG	-	smart_Neu_Z,pfscan_Neu_Z		0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	protein_coding	OTTHUMT00000255434.2	C	NM_032442	-		7229606	-1	no_errors	ENST00000399464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7229606	C	T	7229606	3	4	196	1	0	0	0	0	1	0	0	0	10349	864	30	2	3523	2	NEURL4	17	7229606	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2220184	7229606	73965604	1811	15083											
NLGN2	57555	genome.wustl.edu	37	chr17	7320508	7320508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcgctggccgcctcgtcCccccgctggcgccccgggca	13	22	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7320508C>T	ENST00000302926.2	+	7	1971	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	RP11-104H15.7_ENST00000575310.1_RNA|NLGN2_ENST00000575301.1_Missense_Mutation_p.P633L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	633					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCGCCTCGTCCCCCCGCTGGC	0.756																																																	0								ENSG00000169992						25	19	21					17																	7320508		2178	4247	6425	NLGN2	SO:0001583	missense	0			-	HGNC	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1898C>T	17.37:g.7320508C>T	ENSP00000305288:p.Pro633Leu	Somatic	0	15	0		0.52429534266604	5	54.55	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	Q9P2I1	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P633L	ENST00000302926.2	37	c.1898	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874918	0.17395	.	.	ENSG00000169992	ENST00000302926	T	0.65916	-0.18	4.44	4.44	0.53790	.	0.602886	0.16251	N	0.222697	T	0.50137	0.1598	N	0.25647	0.755	0.45822	D	0.998692	B	0.18968	0.032	B	0.19391	0.025	T	0.50021	-0.8876	10	0.54805	T	0.06	.	12.7595	0.57356	0.0:1.0:0.0:0.0	.	633	Q8NFZ4	NLGN2_HUMAN	L	633	ENSP00000305288:P633L	ENSP00000305288:P633L	P	+	2	0	NLGN2	7261232	0.001000	0.12720	0.796000	0.32109	0.058000	0.15608	0.484000	0.22308	2.467000	0.83353	0.561000	0.74099	CCC	-	NULL		0.756	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	protein_coding	OTTHUMT00000226941.2	C	NM_020795	-		7320508	1	no_errors	ENST00000302926	ensembl	human	known	74_37	missense	SNP	0.915	T	T	7320508	C	T	7320508	3	4	196	1	0	0	0	0	1	0	0	0	10464	623	22	2	1924	2	NLGN2	17	7320508	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	90902	7320508	73874702	1812	15084											
SHBG	6462	genome.wustl.edu	37	chr17	7533563	7533563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctactactgcgtcacaccCgccagggatgggccctgaga	12	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7533563C>T	ENST00000380450.4	+	1	104	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	SHBG_ENST00000340624.5_Intron|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Missense_Mutation_p.R25C|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575903.1_Missense_Mutation_p.R25C|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SAT2_ENST00000573566.1_5'Flank|SHBG_ENST00000416273.3_Missense_Mutation_p.R25C	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	25			R -> H (in dbSNP:rs6260). {ECO:0000269|PubMed:10391209}.		primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.R25C(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	gcGTCACACCCGCCAGGGATG	0.627																																																	2	Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000129214						65	52	56					17																	7533563		2203	4300	6503	SHBG	SO:0001583	missense	0			-	HGNC		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.73C>T	17.37:g.7533563C>T	ENSP00000369816:p.Arg25Cys	Somatic	0	22	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.R25C	ENST00000380450.4	37	c.73	CCDS11117.1	17	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847487	0.17034	.	.	ENSG00000129214	ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	T;T;T	0.78595	-1.19;-1.19;-1.19	4.32	2.18	0.27775	.	0.418679	0.21026	U	0.081427	T	0.51483	0.1677	N	0.08118	0	0.09310	N	0.999999	P;P;P;P;B	0.49447	0.924;0.876;0.733;0.482;0.267	B;B;B;B;B	0.39152	0.292;0.153;0.17;0.011;0.007	T	0.47355	-0.9124	10	0.37606	T	0.19	-0.6594	5.5055	0.16852	0.0:0.7412:0.0:0.2588	.	25;25;25;25;25	F5H5Z8;E9PH59;E9PGW1;E9PGQ3;P04278	.;.;.;.;SHBG_HUMAN	C	25	ENSP00000393426:R25C;ENSP00000388867:R25C;ENSP00000369816:R25C	ENSP00000369816:R25C	R	+	1	0	SHBG	7474288	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.755000	0.26405	1.056000	0.40484	-0.215000	0.12644	CGC	-	NULL		0.627	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	protein_coding	OTTHUMT00000226957.2	C	NM_001040	-		7533563	1	no_errors	ENST00000380450	ensembl	human	known	74_37	missense	SNP	0.001	T	T	7533563	C	T	7533563	3	4	196	1	0	0	0	0	1	0	0	0	14277	652	23	1	75	1	SHBG	17	7533563	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	213055	7533563	73661647	1813	15085											
ATP1B2	482	genome.wustl.edu	37	chr17	7556703	7556703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctagcctttatcctcCtcttctacctcgttttttat	2	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7556703C>T	ENST00000250111.4	+	2	531	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	42					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTTATCCTCCTCTTCTACCT	0.542																																																	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)						ENSG00000129244						199	158	172					17																	7556703		2203	4300	6503	ATP1B2	SO:0001583	missense	0			-	HGNC	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"ATPases / P-type"	805	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-2", "sodium pump subunit beta-2", "sodium-potassium ATPase subunit beta 2 (non-catalytic)"	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.124C>T	17.37:g.7556703C>T	ENSP00000250111:p.Leu42Phe	Somatic	0	44	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP							pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.L42F	ENST00000250111.4	37	c.124	CCDS32550.1	17	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577058	0.86645	.	.	ENSG00000129244	ENST00000250111	T	0.43294	0.95	5.02	5.02	0.67125	.	0.249733	0.34046	N	0.004311	T	0.50990	0.1648	M	0.62723	1.935	0.58432	D	0.999996	P	0.51933	0.949	P	0.54210	0.745	T	0.53774	-0.8391	10	0.62326	D	0.03	-0.2686	9.4686	0.38829	0.0:0.9024:0.0:0.0976	.	42	P14415	AT1B2_HUMAN	F	42	ENSP00000250111:L42F	ENSP00000250111:L42F	L	+	1	0	ATP1B2	7497428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.983000	0.49345	2.326000	0.78906	0.563000	0.77884	CTC	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta		0.542	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B2	protein_coding	OTTHUMT00000440234.1	C	NM_001678	-		7556703	1	no_errors	ENST00000250111	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7556703	C	T	7556703	3	4	196	1	0	0	0	0	1	0	0	0	1133	681	24	2	130	2	ATP1B2	17	7556703	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	23140	7556703	73638507	1814	15086											
TP53	7157	genome.wustl.edu	37	chr17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	9	14	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E286K	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.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(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.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(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)	AGATTCTCTTCCTCTGTGCGC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M		ENSG00000141510						95	81	86					17																	7577082		2203	4300	6503	TP53	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;	-	HGNC	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.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys	Somatic	0	29	0		0.52429534266604	13	86.46	83	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	20	51.22	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E286K	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	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	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577082	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577082	C	T	7577082	3	4	196	1	0	0	0	0	1	0	0	0	16388	864	30	2	430	2	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	20379	7577082	73618128	1815	15087											
WRAP53	55135	genome.wustl.edu	37	chr17	7606658	7606658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagaggagctgggccttCccttgctctccacgcgccac	12	15	1	1	rs1861948	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7606658C>T	ENST00000316024.5	+	10	3849	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	WRAP53_ENST00000396463.2_Missense_Mutation_p.P501S|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000534050.1_Missense_Mutation_p.P468S|WRAP53_ENST00000457584.2_Missense_Mutation_p.P501S|WRAP53_ENST00000431639.2_Missense_Mutation_p.P501S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	501					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCTGGGCCTTCCCTTGCTCTC	0.647																																																	0								ENSG00000141499						91	72	79					17																	7606658		2203	4300	6503	WRAP53	SO:0001583	missense	0			-	HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1501C>T	17.37:g.7606658C>T	ENSP00000324203:p.Pro501Ser	Somatic	0	36	0		0.52429534266604	113	22.07	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P501S	ENST00000316024.5	37	c.1501	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478458	0.44044	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.75	5.45	5.45	0.79879	.	0.169022	0.38837	N	0.001551	T	0.60702	0.2289	L	0.46741	1.465	0.42098	D	0.991329	D;D	0.65815	0.995;0.995	P;P	0.57425	0.769;0.82	T	0.53187	-0.8474	10	0.22706	T	0.39	-21.236	17.17	0.86827	0.0:1.0:0.0:0.0	rs1861948;rs1861948	468;501	E9PMG4;Q9BUR4	.;WAP53_HUMAN	S	501;501;501;501;468	ENSP00000397219:P501S;ENSP00000324203:P501S;ENSP00000411061:P501S;ENSP00000379727:P501S;ENSP00000434999:P468S	ENSP00000324203:P501S	P	+	1	0	WRAP53	7547383	0.697000	0.27767	0.999000	0.59377	0.196000	0.23810	1.735000	0.38176	2.748000	0.94277	0.549000	0.68633	CCC	-	NULL		0.647	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	C	NM_018081	rs1861948		7606658	1	no_errors	ENST00000316024	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7606658	C	T	7606658	3	4	196	1	0	0	0	0	1	0	0	0	17407	855	30	2	1539	2	WRAP53	17	7606658	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	29576	7606658	73588552	1816	15088											
DNAH2	146754	genome.wustl.edu	37	chr17	7734590	7734590	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctttccttgcaacctcaGattacacccaccagggctgg	8	14	1	1	rs527798231		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7734590G>A	ENST00000572933.1	+	80	13877	c.12417G>A	c.(12415-12417)caG>caA	p.Q4139Q	DNAH2_ENST00000389173.2_Silent_p.Q4139Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4139					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCAACCTCAGATTACACCCA	0.567																																																	0								ENSG00000183914						101	109	106					17																	7734590		2203	4300	6503	DNAH2	SO:0001819	synonymous_variant	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12417G>A	17.37:g.7734590G>A		Somatic	0	41	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q4139	ENST00000572933.1	37	c.12417	CCDS32551.1	17																																																																																			-	pfam_Dynein_heavy_dom		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-		7734590	1	no_errors	ENST00000389173	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7734590	G	A	7734590	2	1	196	1	0	0	0	0	0	0	0	1	4604	933	33	2		2	DNAH2	17	7734590	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	127932	7734590	73460620	1817	15089											
KDM6B	23135	genome.wustl.edu	37	chr17	7750915	7750915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtctctcaccatggcCgcctggggccctcggcacac	13	16	2	0	rs529894126		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7750915C>T	ENST00000448097.2	+	11	1640	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	KDM6B_ENST00000254846.5_Missense_Mutation_p.R437C			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	437	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCATGGCCGCCTGGGGCC	0.652													C|||	1	0.000199681	0	0	5008	,	,		7561	0.001		0	False		,,,				2504	0																0								ENSG00000132510						28	31	30					17																	7750915		2203	4300	6503	KDM6B	SO:0001583	missense	0			-	HGNC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1309C>T	17.37:g.7750915C>T	ENSP00000412513:p.Arg437Cys	Somatic	0	15	0		0.52429534266604	1	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	C9IZ40|Q96G33	Missense_Mutation	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R437C	ENST00000448097.2	37	c.1309		17	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655466	0.47467	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.10288	2.89;2.89	4.19	4.19	0.49359	.	0.178130	0.36338	N	0.002644	T	0.16128	0.0388	N	0.14661	0.345	0.58432	D	0.999995	D	0.89917	1.0	D	0.67548	0.952	T	0.08166	-1.0735	10	0.51188	T	0.08	-4.3945	13.9239	0.63950	0.0:1.0:0.0:0.0	.	437	O15054-1	.	C	437	ENSP00000254846:R437C;ENSP00000412513:R437C	ENSP00000254846:R437C	R	+	1	0	KDM6B	7691640	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.539000	0.36104	2.343000	0.79666	0.561000	0.74099	CGC	-	NULL		0.652	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	protein_coding	OTTHUMT00000440248.1	C	XM_043272	-		7750915	1	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7750915	C	T	7750915	3	4	196	1	0	0	0	0	1	0	0	0	8140	652	23	1	1339	1	KDM6B	17	7750915	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	16325	7750915	73444295	1818	15090											
ALOXE3	59344	genome.wustl.edu	37	chr17	8020268	8020268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcaagagctcacccagctCcgctgtgcaacgcaccttgt	9	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8020268C>T	ENST00000448843.2	-	3	518	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ALOXE3_ENST00000318227.3_Missense_Mutation_p.E192K|ALOXE3_ENST00000380149.1_Missense_Mutation_p.E216K	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	60	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCACCCAGCTCCGCTGTGCAA	0.587																																																	0								ENSG00000179148						69	49	56					17																	8020268		2203	4300	6503	ALOXE3	SO:0001583	missense	0			-	HGNC	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.178G>A	17.37:g.8020268C>T	ENSP00000400581:p.Glu60Lys	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	63	14.86	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C	p.E192K	ENST00000448843.2	37	c.574	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275378	0.40194	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.63255	-0.03;-0.03;-0.03	5.36	5.36	0.76844	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.404697	0.28914	N	0.013738	T	0.63534	0.2519	L	0.56769	1.78	0.42468	D	0.992814	B;B;B	0.25563	0.129;0.123;0.123	B;B;B	0.29440	0.102;0.102;0.102	T	0.64300	-0.6440	10	0.72032	D	0.01	-15.5831	18.217	0.89889	0.0:1.0:0.0:0.0	.	192;60;60	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	K	216;192;60	ENSP00000369494:E216K;ENSP00000314879:E192K;ENSP00000400581:E60K	ENSP00000314879:E192K	E	-	1	0	ALOXE3	7960993	0.409000	0.25368	0.943000	0.38184	0.031000	0.12232	2.112000	0.41892	2.662000	0.90505	0.555000	0.69702	GAG	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.587	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	protein_coding	OTTHUMT00000441475.1	C		-		8020268	-1	no_errors	ENST00000318227	ensembl	human	known	74_37	missense	SNP	0.983	T	T	8020268	C	T	8020268	3	4	196	1	0	0	0	0	1	0	0	0	542	864	30	2	2013	2	ALOXE3	17	8020268	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	269353	8020268	73174942	1819	15091											
PER1	5187	genome.wustl.edu	37	chr17	8046952	8046952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgggggcacagatgtggGagcagggggaagaggctggg	23	5	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8046952G>A	ENST00000317276.4	-	19	2941	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.P879S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	902	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACAGATGTGGGAGCAGGGGGA	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								ENSG00000179094						6	6	6					17																	8046952		2113	4171	6284	PER1	SO:0001583	missense	0			-	HGNC	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2704C>T	17.37:g.8046952G>A	ENSP00000314420:p.Pro902Ser	Somatic	0	24	0		0.52429534266604	44	22.81	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P902S	ENST00000317276.4	37	c.2704	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334296	0.41297	.	.	ENSG00000179094	ENST00000317276	T	0.13089	2.62	4.77	2.65	0.31530	.	0.273430	0.30419	N	0.009672	T	0.06962	0.0177	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.28267	-1.0049	10	0.38643	T	0.18	-14.342	5.239	0.15462	0.1209:0.2069:0.6722:0.0	.	902	O15534	PER1_HUMAN	S	902	ENSP00000314420:P902S	ENSP00000314420:P902S	P	-	1	0	PER1	7987677	0.880000	0.30214	0.034000	0.17996	0.624000	0.37722	0.858000	0.27845	0.529000	0.28599	0.563000	0.77884	CCC	-	NULL		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	protein_coding	OTTHUMT00000441481.2	G		-		8046952	-1	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	SNP	0.956	A	A	8046952	G	A	8046952	3	1	196	1	0	0	0	0	1	0	0	0	11731	1174	41	2	1188	2	PER1	17	8046952	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	26684	8046952	73148258	1820	15092											
PIK3R6	146850	genome.wustl.edu	37	chr17	8726794	8726794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggggtccacagtccgGgatgtgtccagggaaggagg	18	7	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8726794G>A	ENST00000311434.9	-	14	1775	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	512					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCACAGTCCGGGATGTGTCCA	0.522																																																	0								ENSG00000174083						90	97	95					17																	8726794		1985	4182	6167	PIK3R6	SO:0001819	synonymous_variant	0			-	HGNC	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1536C>T	17.37:g.8726794G>A		Somatic	0	72	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	76	26.21	Q658R3	Silent	SNP							pfam_PI3K_1B_gamma_p101_su	p.S512	ENST00000311434.9	37	c.1536		17																																																																																			-	pfam_PI3K_1B_gamma_p101_su		0.522	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	protein_coding		G	NM_001010855	-		8726794	-1	no_errors	ENST00000311434	ensembl	human	known	74_37	silent	SNP	0.032	A	A	8726794	G	A	8726794	2	1	196	1	0	0	0	0	0	0	0	1	11925	1219	43	2		2	PIK3R6	17	8726794	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	679842	8726794	72468416	1821	15093											
MYH2	4620	genome.wustl.edu	37	chr17	10432355	10432355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctttggcccgggaggcCcgctctgcctcgatttcctc	11	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:10432355C>T	ENST00000245503.5	-	27	3780	c.3396G>A	c.(3394-3396)cgG>cgA	p.R1132R	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1132R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCCGGGAGGCCCGCTCTGCCT	0.607																																																	0								ENSG00000125414						35	41	39					17																	10432355		2200	4292	6492	MYH2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3396G>A	17.37:g.10432355C>T		Somatic	0	64	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1132	ENST00000245503.5	37	c.3396	CCDS11156.1	17																																																																																			-	pfam_Myosin_tail		0.607	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	C	NM_017534	-		10432355	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	SNP	0.926	T	T	10432355	C	T	10432355	2	4	196	1	0	0	0	0	0	0	0	1	10037	610	22	2		2	MYH2	17	10432355	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1705561	10432355	70762855	1822	15094											
DNAH9	1770	genome.wustl.edu	37	chr17	11672548	11672548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggctggcactggcaagtCggtgctggtgggagctaagc	17	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:11672548C>T	ENST00000262442.4	+	38	7522	c.7454C>T	c.(7453-7455)tCg>tTg	p.S2485L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2485L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2485	AAA 3. {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)			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)		ACTGGCAAGTCGGTGCTGGTG	0.602																																																	0								ENSG00000007174						75	67	70					17																	11672548		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	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.7454C>T	17.37:g.11672548C>T	ENSP00000262442:p.Ser2485Leu	Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S2485L	ENST00000262442.4	37	c.7454	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158674	0.78226	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.45276	0.9;0.9	5.71	5.71	0.89125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	D	0.83622	0.0140	10	0.87932	D	0	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	2485	Q9NYC9	DYH9_HUMAN	L	2485;2485;1067	ENSP00000262442:S2485L;ENSP00000414874:S2485L	ENSP00000262442:S2485L	S	+	2	0	DNAH9	11613273	1.000000	0.71417	0.913000	0.36048	0.095000	0.18619	7.776000	0.85560	2.696000	0.92011	0.655000	0.94253	TCG	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	-		11672548	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11672548	C	T	11672548	3	4	196	1	0	0	0	0	1	0	0	0	4610	893	31	1	7604	1	DNAH9	17	11672548	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1240193	11672548	69522662	1823	15095											
DNAH9	1770	genome.wustl.edu	37	chr17	11795159	11795159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaaagcctcagggagcgGgtggccaacctaatagacag	14	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:11795159G>A	ENST00000262442.4	+	58	11246	c.11178G>A	c.(11176-11178)cgG>cgA	p.R3726R	DNAH9_ENST00000608377.1_Silent_p.R38R|DNAH9_ENST00000454412.2_Silent_p.R3726R|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3726			R -> Q (in dbSNP:rs16945431).|R -> W (in dbSNP:rs3760436).		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)		TCAGGGAGCGGGTGGCCAACC	0.547																																																	0								ENSG00000007174						147	142	144					17																	11795159		2203	4300	6503	DNAH9	SO:0001819	synonymous_variant	0			-	HGNC	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.11178G>A	17.37:g.11795159G>A		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	47	33.33	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3726	ENST00000262442.4	37	c.11178	CCDS11160.1	17																																																																																			-	NULL		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372	-		11795159	1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	SNP	0.000	A	A	11795159	G	A	11795159	2	1	196	1	0	0	0	0	0	0	0	1	4610	1219	43	2		2	DNAH9	17	11795159	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	122611	11795159	69400051	1824	15096											
MYOCD	93649	genome.wustl.edu	37	chr17	12626276	12626276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggccactggagctggtGgaaaaaaacattcttcctgt	11	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:12626276G>A	ENST00000343344.4	+	5	366	c.366G>A	c.(364-366)gtG>gtA	p.V122V	MYOCD_ENST00000425538.1_Silent_p.V122V|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.V26V			Q8IZQ8	MYCD_HUMAN	myocardin	122					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGAGCTGGTGGAAAAAAACA	0.468																																																	0								ENSG00000141052						131	134	133					17																	12626276		2203	4300	6503	MYOCD	SO:0001819	synonymous_variant	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.366G>A	17.37:g.12626276G>A		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	58	32.56	Q5UBU5|Q8N7Q1	Silent	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.V122	ENST00000343344.4	37	c.366	CCDS11163.1	17																																																																																			-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat		0.468	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	G	NM_153604	-		12626276	1	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	SNP	1.000	A	A	12626276	G	A	12626276	2	1	196	1	0	0	0	0	0	0	0	1	10089	1335	47	2		2	MYOCD	17	12626276	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	831117	12626276	68568934	1825	15097											
MYOCD	93649	genome.wustl.edu	37	chr17	12639486	12639486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccccctcaggtaaccagGtgagtttctccaaatccacg	7	15	3	1	rs575887022		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:12639486G>T	ENST00000343344.4	+	6	424	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	MYOCD_ENST00000425538.1_Missense_Mutation_p.V142L|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.V46L			Q8IZQ8	MYCD_HUMAN	myocardin	142					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGTAACCAGGTGAGTTTCTC	0.473																																																	0								ENSG00000141052						195	199	198					17																	12639486		2203	4300	6503	MYOCD	SO:0001583	missense	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.424G>T	17.37:g.12639486G>T	ENSP00000341835:p.Val142Leu	Somatic	0	112	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	106	18.32	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.V142L	ENST00000343344.4	37	c.424	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282050	0.40394	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.47869	0.83	6.03	5.06	0.68205	.	0.196730	0.44285	D	0.000476	T	0.40886	0.1135	M	0.77313	2.365	0.35403	D	0.791773	P;P;B	0.40230	0.649;0.708;0.323	B;B;B	0.34242	0.149;0.178;0.071	T	0.46527	-0.9185	10	0.10636	T	0.68	-29.9171	8.819	0.35014	0.2114:0.0:0.7886:0.0	.	46;142;142	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	142;142;46	ENSP00000341835:V142L	ENSP00000341835:V142L	V	+	1	0	MYOCD	12580211	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.024000	0.64090	2.854000	0.98071	0.655000	0.94253	GTG	-	NULL		0.473	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	G	NM_153604	-		12639486	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12639486	G	T	12639486	3	4	196	1	0	0	0	0	1	0	0	0	10089	1261	44	3	446	3	MYOCD	17	12639486	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	13210	12639486	68555724	1826	15098											
ZNF287	57336	genome.wustl.edu	37	chr17	16470890	16470890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtatggaaaattcctAaaattctgtcgacaggtctc	9	8	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:16470890A>G	ENST00000395824.1	-	2	773	c.156T>C	c.(154-156)ttT>ttC	p.F52F	ZNF287_ENST00000461555.1_5'Flank|ZNF287_ENST00000395825.3_Silent_p.F52F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	45	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GAAAATTCCTAAAATTCTGTC	0.483																																																	0								ENSG00000141040						78	79	79					17																	16470890		2203	4300	6503	ZNF287	SO:0001819	synonymous_variant	0			-	HGNC	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.156T>C	17.37:g.16470890A>G		Somatic	0	53	0		0.52429534266604	8	46.67	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	Q6IAG1	Silent	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F52	ENST00000395824.1	37	c.156	CCDS11179.2	17																																																																																			-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.483	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	protein_coding	OTTHUMT00000130504.1	A		-		16470890	-1	no_errors	ENST00000395824	ensembl	human	known	74_37	silent	SNP	0.997	G	G	16470890	A	G	16470890	2	3	196	1	0	0	0	0	0	0	0	1	17832	359	13	5		5	ZNF287	17	16470890	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	3831404	16470890	64724320	1827	15099											
RAI1	10743	genome.wustl.edu	37	chr17	17701767	17701767	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccgtgtggaccggcggcgtCtacctggtggccgggaagct	18	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:17701767C>T	ENST00000353383.1	+	3	5974	c.5505C>T	c.(5503-5505)gtC>gtT	p.V1835V	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1835					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCGGCGGCGTCTACCTGGTGG	0.677																																																	0								ENSG00000108557						21	21	21					17																	17701767		2202	4300	6502	RAI1	SO:0001819	synonymous_variant	0			-	HGNC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5505C>T	17.37:g.17701767C>T		Somatic	0	34	0		0.52429534266604	30	36.73	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP							smart_Znf_PHD	p.V1835	ENST00000353383.1	37	c.5505	CCDS11188.1	17																																																																																			-	NULL		0.677	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	protein_coding	OTTHUMT00000131775.1	C	NM_030665	-		17701767	1	no_errors	ENST00000353383	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17701767	C	T	17701767	2	4	196	1	0	0	0	0	0	0	0	1	13015	900	32	2		2	RAI1	17	17701767	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1230877	17701767	63493443	1828	15100											
MYO15A	51168	genome.wustl.edu	37	chr17	18054156	18054156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacctctccccaggcccggGagatgaccctgcaggccacg	11	19	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18054156G>A	ENST00000205890.5	+	38	7740	c.7402G>A	c.(7402-7404)Gag>Aag	p.E2468K	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2468	Tail.			E -> G (in Ref. 2; AAF05903). {ECO:0000305}.	inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGGCCCGGGAGATGACCCT	0.677																																																	0								ENSG00000091536						23	30	28					17																	18054156		2037	4170	6207	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7402G>A	17.37:g.18054156G>A	ENSP00000205890:p.Glu2468Lys	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	100	11.50	B4DFC7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2468K	ENST00000205890.5	37	c.7402	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726434	0.69074	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	4.01	4.01	0.46588	.	.	.	.	.	T	0.81470	0.4829	L	0.51422	1.61	0.80722	D	1	P	0.47762	0.9	B	0.38880	0.284	T	0.81448	-0.0928	9	0.41790	T	0.15	.	10.6975	0.45907	0.0:0.3245:0.6755:0.0	.	2468	Q9UKN7	MYO15_HUMAN	K	2468	ENSP00000205890:E2468K	ENSP00000205890:E2468K	E	+	1	0	MYO15A	17994881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.248000	0.74166	0.650000	0.86243	GAG	-	NULL		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	G	NM_016239	-		18054156	1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18054156	G	A	18054156	3	1	196	1	0	0	0	0	1	0	0	0	10065	1175	41	2	7544	2	MYO15A	17	18054156	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	352389	18054156	63141054	1829	15101											
FAM83G	644815	genome.wustl.edu	37	chr17	18874837	18874837	+	Silent	SNP	G	G	T													gtggccctgccatcggtcatGgggcgggcattttgggccag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18874837G>T	ENST00000388995.6	-	6	2530	c.2307C>A	c.(2305-2307)ccC>ccA	p.P769P	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.P769P|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.P769P|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	769					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATCGGTCATGGGGCGGGCAT	0.647																																																	0								ENSG00000188522						82	93	89					17																	18874837		1981	4143	6124	FAM83G	SO:0001819	synonymous_variant	0			-	HGNC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2307C>A	17.37:g.18874837G>T		Somatic	0	73	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	111	34.71	Q3KQZ4|Q6ZW60	Silent	SNP							pfam_DUF1669	p.P769	ENST00000388995.6	37	c.2307	CCDS42276.1	17																																																																																			-	NULL		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	protein_coding	OTTHUMT00000253108.4	G		-		18874837	-1	no_errors	ENST00000345041	ensembl	human	known	74_37	silent	SNP	0.000	T	T	18874837	G	T	18874837	2	4	196	1	0	0	0	0	0	0	0	1	5641	1335	47	3		3	FAM83G	17	18874837	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	820681	18874837	62320373	1830	15102	340	2									
FAM83G	644815	genome.wustl.edu	37	chr17	18874838	18874838	+	Missense_Mutation	SNP	G	G	A													tggccctgccatcggtcatgGggcgggcattttgggccagt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18874838G>A	ENST00000388995.6	-	6	2529	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P769L|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.P769L|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	769					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCGGTCATGGGGCGGGCATT	0.652																																																	0								ENSG00000188522						82	92	89					17																	18874838		1982	4143	6125	FAM83G	SO:0001583	missense	0			-	HGNC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2306C>T	17.37:g.18874838G>A	ENSP00000373647:p.Pro769Leu	Somatic	0	72	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	111	34.71	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP							pfam_DUF1669	p.P769L	ENST00000388995.6	37	c.2306	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	2.422	-0.332770	0.05314	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12465	2.68;2.68	5.03	2.77	0.32553	.	0.771909	0.11352	N	0.572881	T	0.09069	0.0224	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.27785	T	0.31	-2.3855	7.9442	0.29976	0.1029:0.1625:0.7346:0.0	.	769	A6ND36	FA83G_HUMAN	L	769	ENSP00000373647:P769L;ENSP00000343279:P769L	ENSP00000343279:P769L	P	-	2	0	FAM83G	18815563	0.171000	0.23029	0.001000	0.08648	0.017000	0.09413	1.636000	0.37144	1.083000	0.41159	0.561000	0.74099	CCC	-	NULL		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	protein_coding	OTTHUMT00000253108.4	G		-		18874838	-1	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	SNP	0.001	A	A	18874838	G	A	18874838	3	1	196	1	0	0	0	0	1	0	0	0	5641	1232	43	2	169	2	FAM83G	17	18874838	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	18874838	62320372	1831	15103	340	2									
FAM83G	644815	genome.wustl.edu	37	chr17	18881549	18881549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcactgggctctgggGgagggcaaggctctggacgg	23	8	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18881549G>A	ENST00000388995.6	-	5	1653	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P477L|FAM83G_ENST00000345041.4_Missense_Mutation_p.P477L|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	477	Pro-rich.				BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGGCTCTGGGGGAGGGCAAGG	0.692																																																	0								ENSG00000188522						20	24	23					17																	18881549		2026	4185	6211	FAM83G	SO:0001583	missense	0			-	HGNC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1430C>T	17.37:g.18881549G>A	ENSP00000373647:p.Pro477Leu	Somatic	0	36	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	29	35.56	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP							pfam_DUF1669	p.P477L	ENST00000388995.6	37	c.1430	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	2.113	-0.403236	0.04865	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11712	2.75;2.75	5.16	4.16	0.48862	.	1.453650	0.03940	N	0.286781	T	0.11665	0.0284	L	0.29908	0.895	0.26923	N	0.966628	B	0.20671	0.047	B	0.19946	0.027	T	0.29397	-1.0013	10	0.46703	T	0.11	.	9.8557	0.41084	0.0:0.1514:0.6916:0.157	.	477	A6ND36	FA83G_HUMAN	L	477	ENSP00000373647:P477L;ENSP00000343279:P477L	ENSP00000343279:P477L	P	-	2	0	FAM83G	18822274	0.002000	0.14202	0.038000	0.18304	0.017000	0.09413	0.930000	0.28858	1.139000	0.42245	0.650000	0.86243	CCC	-	NULL		0.692	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	protein_coding	OTTHUMT00000253108.4	G		-		18881549	-1	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	SNP	0.536	A	A	18881549	G	A	18881549	3	1	196	1	0	0	0	0	1	0	0	0	5641	1232	43	2	1049	2	FAM83G	17	18881549	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6711	18881549	62313661	1832	15104											
MAPK7	5598	genome.wustl.edu	37	chr17	19286474	19286474	+	Missense_Mutation	SNP	C	C	T													gaaccctgccgatattgagtCcctgcagcgtgagatccaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19286474C>T	ENST00000308406.5	+	7	2767	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	MAPK7_ENST00000299612.7_Missense_Mutation_p.S655F|MAPK7_ENST00000395604.3_Missense_Mutation_p.S794F|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.S794F|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	794	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GATATTGAGTCCCTGCAGCGT	0.617																																																	0								ENSG00000166484						81	73	76					17																	19286474		2203	4300	6503	MAPK7	SO:0001583	missense	0			-	HGNC	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2381C>T	17.37:g.19286474C>T	ENSP00000311005:p.Ser794Phe	Somatic	0	33	0		0.52429534266604	64	36.63	37	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	41	43.24	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S794F	ENST00000308406.5	37	c.2381	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669490	0.88348	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.77098	-0.82;-1.07;-0.82;-0.82	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	L	0.53249	1.67	0.51482	D	0.999922	D	0.71674	0.998	D	0.80764	0.994	D	0.86873	0.2037	10	0.87932	D	0	-22.3523	15.6104	0.76713	0.0:1.0:0.0:0.0	.	794	Q13164	MK07_HUMAN	F	794;655;794;794	ENSP00000311005:S794F;ENSP00000299612:S655F;ENSP00000378968:S794F;ENSP00000378966:S794F	ENSP00000299612:S655F	S	+	2	0	MAPK7	19227067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.189000	0.65098	2.269000	0.75478	0.491000	0.48974	TCC	-	NULL		0.617	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	protein_coding	OTTHUMT00000132506.1	C	NM_139033	-		19286474	1	no_errors	ENST00000308406	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19286474	C	T	19286474	3	4	196	1	0	0	0	0	1	0	0	0	9284	855	30	2	2403	2	MAPK7	17	19286474	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	404925	19286474	61908736	1833	15105	341	2									
MAPK7	5598	genome.wustl.edu	37	chr17	19286475	19286475	+	Silent	SNP	C	C	T													aaccctgccgatattgagtcCctgcagcgtgagatccagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19286475C>T	ENST00000308406.5	+	7	2768	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	MAPK7_ENST00000299612.7_Silent_p.S655S|MAPK7_ENST00000395604.3_Silent_p.S794S|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Silent_p.S794S|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	794	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ATATTGAGTCCCTGCAGCGTG	0.612																																																	0								ENSG00000166484						81	73	76					17																	19286475		2203	4300	6503	MAPK7	SO:0001819	synonymous_variant	0			-	HGNC	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2382C>T	17.37:g.19286475C>T		Somatic	0	35	0		0.52429534266604	64	36.63	37	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	42	43.24	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S794	ENST00000308406.5	37	c.2382	CCDS11206.1	17																																																																																			-	NULL		0.612	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	protein_coding	OTTHUMT00000132506.1	C	NM_139033	-		19286475	1	no_errors	ENST00000308406	ensembl	human	known	74_37	silent	SNP	0.977	T	T	19286475	C	T	19286475	2	4	196	1	0	0	0	0	0	0	0	1	9284	610	22	2		2	MAPK7	17	19286475	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	19286475	61908735	1834	15106	341	2									
SLC47A1	55244	genome.wustl.edu	37	chr17	19451344	19451344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcgtgatcctgcagcGgagtgcgctcgtcctgctcc	15	14	0	1	rs77138970		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19451344G>A	ENST00000270570.4	+	4	439	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	SLC47A1_ENST00000395585.1_Missense_Mutation_p.R118Q|SLC47A1_ENST00000436810.2_Missense_Mutation_p.R95Q|SLC47A1_ENST00000457293.1_Missense_Mutation_p.R118Q|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.R118Q|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000542886.1_Missense_Mutation_p.R118Q	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	118					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	ATCCTGCAGCGGAGTGCGCTC	0.612													G|||	1	0.000199681	0	0	5008	,	,		19290	0		0.001	False		,,,				2504	0																0								ENSG00000142494						143	120	128					17																	19451344		2203	4300	6503	SLC47A1	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.353G>A	17.37:g.19451344G>A	ENSP00000270570:p.Arg118Gln	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP							pfam_MATE,tigrfam_MATE	p.R118Q	ENST00000270570.4	37	c.353	CCDS11209.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.86	3.238273	0.58886	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.99	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	M	0.93016	3.37	0.21445	N	0.999687	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;P;D;D	0.74348	0.983;0.889;0.974;0.959	T	0.61242	-0.7102	10	0.87932	D	0	-23.5453	12.2823	0.54771	0.0829:0.0:0.9171:0.0	.	95;118;118;118	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	Q	95;118;118;118;118	ENSP00000407155:R95Q;ENSP00000270570:R118Q;ENSP00000415586:R118Q;ENSP00000440435:R118Q;ENSP00000378951:R118Q	ENSP00000270570:R118Q	R	+	2	0	SLC47A1	19391936	0.993000	0.37304	0.021000	0.16686	0.003000	0.03518	6.101000	0.71479	1.100000	0.41517	0.462000	0.41574	CGG	-	pfam_MATE,tigrfam_MATE		0.612	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	protein_coding	OTTHUMT00000132250.1	G	NM_018242	rs77138970		19451344	1	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	SNP	0.258	A	A	19451344	G	A	19451344	3	1	196	1	0	0	0	0	1	0	0	0	14655	1116	39	1	367	1	SLC47A1	17	19451344	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	164869	19451344	61743866	1835	15107											
ULK2	9706	genome.wustl.edu	37	chr17	19689318	19689318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcactgtgtggaggagacCctacagtgaagaggacagcc	14	11	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19689318C>T	ENST00000395544.4	-	21	2682	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	ULK2_ENST00000361658.2_Missense_Mutation_p.G728E	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	728					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGGAGGAGACCCTACAGTGAA	0.507																																																	0								ENSG00000083290						79	75	76					17																	19689318		2203	4300	6503	ULK2	SO:0001583	missense	0			-	HGNC	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2183G>A	17.37:g.19689318C>T	ENSP00000378914:p.Gly728Glu	Somatic	0	68	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	60	29.41	A8MY69|O75119	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G728E	ENST00000395544.4	37	c.2183	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.190537	0.94923	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.75777	2.31	0.58432	D	0.999995	P	0.39883	0.693	P	0.45681	0.49	T	0.75363	-0.3344	10	0.87932	D	0	-14.649	18.4087	0.90543	0.0:1.0:0.0:0.0	.	728	Q8IYT8	ULK2_HUMAN	E	728	ENSP00000354877:G728E;ENSP00000378914:G728E	ENSP00000354877:G728E	G	-	2	0	ULK2	19629910	1.000000	0.71417	0.976000	0.42696	0.965000	0.64279	7.147000	0.77382	2.602000	0.87976	0.536000	0.68110	GGG	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.507	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	protein_coding	OTTHUMT00000132375.2	C	NM_014683	-		19689318	-1	no_errors	ENST00000361658	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19689318	C	T	19689318	3	4	196	1	0	0	0	0	1	0	0	0	16983	623	22	2	955	2	ULK2	17	19689318	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	237974	19689318	61505892	1836	15108											
TMEM11	8834	genome.wustl.edu	37	chr17	21102021	21102021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctcgtcgccaatgcgAgtgggctcaatcacaatgta	11	11	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:21102021A>G	ENST00000317635.5	-	2	666	c.195T>C	c.(193-195)acT>acC	p.T65T	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	65					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCCAATGCGAGTGGGCTCAA	0.607																																																	0								ENSG00000178307						76	59	65					17																	21102021		2203	4300	6503	TMEM11	SO:0001819	synonymous_variant	0			-	HGNC	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 35"	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.195T>C	17.37:g.21102021A>G		Somatic	0	26	0		0.52429534266604	106	43.62	82	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08	Q53YB2	Silent	SNP							NULL	p.T65	ENST00000317635.5	37	c.195	CCDS11216.1	17																																																																																			-	NULL		0.607	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM11	protein_coding	OTTHUMT00000444150.2	A	NM_003876	-		21102021	-1	no_errors	ENST00000317635	ensembl	human	known	74_37	silent	SNP	0.296	G	G	21102021	A	G	21102021	2	3	196	1	0	0	0	0	0	0	0	1	16033	291	11	5		5	TMEM11	17	21102021	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1412703	21102021	60093189	1837	15109											
POLDIP2	7126	genome.wustl.edu	37	chr17	26675195	26675195	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctttattgctttccaggGagaagggaggaatccgaaca	11	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26675195G>A	ENST00000226225.2	+	0	3627				POLDIP2_ENST00000540200.1_Missense_Mutation_p.S351F|POLDIP2_ENST00000003607.4_5'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)						apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTTTCCAGGGAGAAGGGAGG	0.547																																																	0								ENSG00000004142						100	102	101					17																	26675195		1882	4116	5998	POLDIP2	SO:0001628	intergenic_variant	0			-	HGNC		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501		17.37:g.26675195G>A		Somatic	0	47	0		0.52429534266604	307	40.8	213	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	B7Z6M4|Q5TZQ1	Missense_Mutation	SNP							pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain	p.S351F	ENST00000226225.2	37	c.1052	CCDS11227.1	17																																																																																			-	superfamily_ApaG_domain,pfscan_ApaG_domain		0.547	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLDIP2	protein_coding	OTTHUMT00000255681.2	G	NM_021137	-		26675195	-1	no_errors	ENST00000540200	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26675195	G	A	26675195	1	1	196	0	1	0	0	0	0	0	0	0	12196	1174	41	2		2	POLDIP2	17	26675195	IGR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5573174	26675195	54520015	1838	15110											
VTN	7448	genome.wustl.edu	37	chr17	26695641	26695641	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agccgacagggagctgccttCacactcctcctgactgggct	11	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26695641C>G	ENST00000226218.4	-	6	1498	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|VTN_ENST00000438614.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	294					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GAGCTGCCTTCACACTCCTCC	0.592																																																	0								ENSG00000109072						84	77	80					17																	26695641		2203	4300	6503	VTN	SO:0001583	missense	0			-	HGNC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.880G>C	17.37:g.26695641C>G	ENSP00000226218:p.Glu294Gln	Somatic	0	23	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP							pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E294Q	ENST00000226218.4	37	c.880	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407611	0.42715	.	.	ENSG00000255604	ENST00000226218	T	0.02656	4.21	5.92	5.92	0.95590	Hemopexin/matrixin (1);	0.339123	0.36066	N	0.002817	T	0.03695	0.0105	L	0.35414	1.06	0.31508	N	0.66394	P	0.36354	0.549	B	0.36567	0.228	T	0.30327	-0.9982	10	0.33141	T	0.24	-14.8302	15.7636	0.78106	0.0:0.8644:0.1356:0.0	.	294	P04004	VTNC_HUMAN	Q	294	ENSP00000226218:E294Q	ENSP00000226218:E294Q	E	-	1	0	AC002094.1	23719768	0.601000	0.26907	0.985000	0.45067	0.926000	0.56050	1.822000	0.39052	2.804000	0.96469	0.655000	0.94253	GAA	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	protein_coding	OTTHUMT00000255680.2	C	NM_000638	-		26695641	-1	no_errors	ENST00000226218	ensembl	human	known	74_37	missense	SNP	0.983	G	G	26695641	C	G	26695641	3	3	196	1	0	0	0	0	1	0	0	0	17244	835	29	4	568	4	VTN	17	26695641	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	20446	26695641	54499569	1839	15111											
FOXN1	8456	genome.wustl.edu	37	chr17	26864307	26864307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgacttggcagccccGggcagtggtggctccggggc	19	12	0	1	rs370998044		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26864307G>A	ENST00000226247.2	+	8	1829	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	FOXN1_ENST00000579795.1_Silent_p.P600P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	600					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGCAGCCCCGGGCAGTGGTG	0.677																																																	0								ENSG00000109101	G		0,4406		0,0,2203	36	38	37		1800	1.9	0.8	17		37	1,8599		0,1,4299	no	coding-synonymous	FOXN1	NM_003593.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		600/649	26864307	1,13005	2203	4300	6503	FOXN1	SO:0001819	synonymous_variant	0			-	HGNC	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1800G>A	17.37:g.26864307G>A		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21	B2R9Q7|O15352	Silent	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P600	ENST00000226247.2	37	c.1800	CCDS11232.1	17																																																																																			-	NULL		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	protein_coding	OTTHUMT00000255832.1	G		-		26864307	1	no_errors	ENST00000226247	ensembl	human	known	74_37	silent	SNP	0.305	A	A	26864307	G	A	26864307	2	1	196	1	0	0	0	0	0	0	0	1	6021	1103	39	1		1	FOXN1	17	26864307	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	168666	26864307	54330903	1840	15112											
KIAA0100	9703	genome.wustl.edu	37	chr17	26955286	26955286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccccgagcttacctcCtgatgaccccttatcaggtt	6	16	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26955286C>T	ENST00000528896.2	-	24	4665	c.4591G>A	c.(4591-4593)Gga>Aga	p.G1531R	KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1388R|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1388R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1531						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCTTACCTCCTGATGACCCC	0.507																																																	0								ENSG00000007202						110	98	102					17																	26955286		2203	4300	6503	KIAA0100	SO:0001583	missense	0			-	HGNC	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4591G>A	17.37:g.26955286C>T	ENSP00000436773:p.Gly1531Arg	Somatic	0	81	0		0.52429534266604	27	32.5	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	77	31.25	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP							pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.G1531R	ENST00000528896.2	37	c.4591	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390818	0.62066	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22336	1.96;1.96	5.41	4.41	0.53225	.	0.106321	0.64402	N	0.000004	T	0.19604	0.0471	L	0.44542	1.39	0.49483	D	0.999791	B	0.16166	0.016	B	0.17433	0.018	T	0.03423	-1.1038	10	0.17369	T	0.5	.	15.8911	0.79299	0.0:0.8642:0.1358:0.0	.	1531	Q14667	K0100_HUMAN	R	1531;1501;1531;1388	ENSP00000436773:G1531R;ENSP00000446443:G1388R	ENSP00000005905:G1531R	G	-	1	0	KIAA0100	23979413	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.248000	0.51430	1.231000	0.43661	0.563000	0.77884	GGA	-	NULL		0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	protein_coding	OTTHUMT00000390571.3	C	NM_014680	-		26955286	-1	no_errors	ENST00000528896	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26955286	C	T	26955286	3	4	196	1	0	0	0	0	1	0	0	0	8156	690	24	2	2180	2	KIAA0100	17	26955286	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	90979	26955286	54239924	1841	15113											
NEK8	284086	genome.wustl.edu	37	chr17	27068497	27068497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggagggatgaggatgccgGactccctcggccagtgcagt	16	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27068497G>A	ENST00000268766.6	+	14	1992	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000444415.3_5'Flank|TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	653					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGATGCCGGACTCCCTCGG	0.582																																					NSCLC(6;19 293 14866 25253 49845)												0								ENSG00000160602						148	113	125					17																	27068497		2203	4300	6503	NEK8	SO:0001583	missense	0			-	HGNC	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1958G>A	17.37:g.27068497G>A	ENSP00000268766:p.Gly653Glu	Somatic	0	43	0		0.52429534266604	7	61.11	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	31.15	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G653E	ENST00000268766.6	37	c.1958	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221062	0.79464	.	.	ENSG00000160602	ENST00000268766	D	0.84442	-1.85	5.83	4.85	0.62838	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.052844	0.85682	D	0.000000	D	0.84933	0.5582	L	0.57536	1.79	0.80722	D	1	P	0.40515	0.719	B	0.42462	0.388	D	0.85106	0.0960	10	0.48119	T	0.1	.	16.0778	0.80979	0.0:0.1341:0.8659:0.0	.	653	Q86SG6	NEK8_HUMAN	E	653	ENSP00000268766:G653E	ENSP00000268766:G653E	G	+	2	0	NEK8	24092624	1.000000	0.71417	0.776000	0.31678	0.880000	0.50808	5.711000	0.68400	1.446000	0.47643	0.655000	0.94253	GGA	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.582	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	protein_coding	OTTHUMT00000446467.2	G		-		27068497	1	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	SNP	0.996	A	A	27068497	G	A	27068497	3	1	196	1	0	0	0	0	1	0	0	0	10332	1174	41	2	2012	2	NEK8	17	27068497	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	113211	27068497	54126713	1842	15114											
MYO18A	399687	genome.wustl.edu	37	chr17	27414025	27414025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcctccttggtgtcccGgagctgcctctgtagccgct	10	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27414025G>A	ENST00000527372.1	-	38	5821	c.5641C>T	c.(5641-5643)Cgg>Tgg	p.R1881W	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1881W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1881W|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1844W|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1881					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGGTGTCCCGGAGCTGCCTC	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0								ENSG00000196535						50	57	55					17																	27414025		2065	4176	6241	MYO18A	SO:0001583	missense	0			-	HGNC	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5641C>T	17.37:g.27414025G>A	ENSP00000437073:p.Arg1881Trp	Somatic	0	17	0		0.52429534266604	74	32.43	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.R1881W	ENST00000527372.1	37	c.5641	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156492	0.78114	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.89617	-2.4;-2.54;-2.4;-2.4	5.18	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.986	D	0.94075	0.7339	10	0.87932	D	0	.	12.906	0.58152	0.0:0.0:0.586:0.4139	.	1484;1844;1881;1881	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	W	1881;1844;1844;1881;1881;777;777;1484;162	ENSP00000346291:R1881W;ENSP00000435932:R1844W;ENSP00000434228:R1881W;ENSP00000437073:R1881W	ENSP00000346291:R1881W	R	-	1	2	MYO18A	24438151	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.124000	0.42006	1.525000	0.49052	0.561000	0.74099	CGG	-	superfamily_Regulat_G_prot_signal_superfam		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	protein_coding	OTTHUMT00000389396.1	G	NM_078471	-		27414025	-1	no_errors	ENST00000354329	ensembl	human	known	74_37	missense	SNP	0.998	A	A	27414025	G	A	27414025	3	1	196	1	0	0	0	0	1	0	0	0	10067	1115	39	1	543	1	MYO18A	17	27414025	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	345528	27414025	53781185	1843	15115											
SSH2	85464	genome.wustl.edu	37	chr17	27958927	27958927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgggggtgcagagaaacCtggttggggtccagagtcct	16	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27958927C>T	ENST00000269033.3	-	15	3355	c.3204G>A	c.(3202-3204)caG>caA	p.Q1068Q	SSH2_ENST00000540801.1_Silent_p.Q1095Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1068					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGAGAAACCTGGTTGGGGT	0.527																																																	0								ENSG00000141298						104	100	101					17																	27958927		2203	4300	6503	SSH2	SO:0001819	synonymous_variant	0			-	HGNC	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3204G>A	17.37:g.27958927C>T		Somatic	0	41	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	46	39.47	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Q1068	ENST00000269033.3	37	c.3204	CCDS11253.1	17																																																																																			-	NULL		0.527	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	protein_coding	OTTHUMT00000256116.1	C	NM_033389	-		27958927	-1	no_errors	ENST00000269033	ensembl	human	known	74_37	silent	SNP	0.093	T	T	27958927	C	T	27958927	2	4	196	1	0	0	0	0	0	0	0	1	15192	680	24	2		2	SSH2	17	27958927	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	544902	27958927	53236283	1844	15116											
CCT6B	10693	genome.wustl.edu	37	chr17	33266335	33266335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acacactcctcaataaaagtGaacttttcttcaccctaaag	3	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33266335G>A	ENST00000314144.5	-	10	1195	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	CCT6B_ENST00000421975.3_Silent_p.F323F|CCT6B_ENST00000436961.3_Silent_p.F315F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	360					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CAATAAAAGTGAACTTTTCTT	0.328																																																	0								ENSG00000132141						124	109	114					17																	33266335		2203	4300	6503	CCT6B	SO:0001819	synonymous_variant	0			-	HGNC	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1080C>T	17.37:g.33266335G>A		Somatic	0	74	0		0.52429534266604	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	46	39.47	B4DX20|B4DYB0|Q8TC34	Silent	SNP							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.F360	ENST00000314144.5	37	c.1080	CCDS32617.1	17																																																																																			-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta		0.328	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	protein_coding	OTTHUMT00000448014.1	G	NM_006584	-		33266335	-1	no_errors	ENST00000314144	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33266335	G	A	33266335	2	1	196	1	0	0	0	0	0	0	0	1	2960	1281	45	2		2	CCT6B	17	33266335	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5307408	33266335	47928875	1845	15117											
SLFN13	146857	genome.wustl.edu	37	chr17	33767962	33767962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatttgctccaaagtaaaGtttttaataatctttgtgtt	5	5	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33767962G>A	ENST00000285013.6	-	6	2621	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	SLFN13_ENST00000542635.1_Silent_p.N782N|SLFN13_ENST00000533791.1_Silent_p.N782N|SLFN13_ENST00000360502.2_Silent_p.N464N|SLFN13_ENST00000534689.1_Silent_p.N464N|SLFN13_ENST00000526861.1_Silent_p.N782N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	782						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCAAAGTAAAGTTTTTAATAA	0.438																																																	0								ENSG00000154760						75	76	76					17																	33767962		2203	4300	6503	SLFN13	SO:0001819	synonymous_variant	0			-	HGNC	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2346C>T	17.37:g.33767962G>A		Somatic	0	30	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.N782	ENST00000285013.6	37	c.2346	CCDS32620.1	17																																																																																			-	superfamily_P-loop_NTPase		0.438	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	protein_coding	OTTHUMT00000381883.1	G	NM_144682	-		33767962	-1	no_errors	ENST00000285013	ensembl	human	known	74_37	silent	SNP	0.005	A	A	33767962	G	A	33767962	2	1	196	1	0	0	0	0	0	0	0	1	14744	1020	36	2		2	SLFN13	17	33767962	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	501627	33767962	47427248	1846	15118											
SLFN13	146857	genome.wustl.edu	37	chr17	33772137	33772137	+	Missense_Mutation	SNP	G	G	A													tttggaaaacttcatatgcaGgatttgactcagatatgttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33772137G>A	ENST00000285013.6	-	3	838	c.563C>T	c.(562-564)cCt>cTt	p.P188L	SLFN13_ENST00000542635.1_Missense_Mutation_p.P188L|SLFN13_ENST00000533791.1_Missense_Mutation_p.P188L|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.P188L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	188						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCATATGCAGGATTTGACTC	0.348																																																	0								ENSG00000154760						114	122	119					17																	33772137		2203	4300	6503	SLFN13	SO:0001583	missense	0			-	HGNC	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.563C>T	17.37:g.33772137G>A	ENSP00000285013:p.Pro188Leu	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P188L	ENST00000285013.6	37	c.563	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397927	0.11696	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.01705	4.68;4.68;4.68	3.39	0.0369	0.14194	.	0.631717	0.13183	N	0.407305	T	0.01489	0.0048	L	0.35341	1.055	0.09310	N	1	P	0.48162	0.906	B	0.43445	0.42	T	0.42515	-0.9447	10	0.09843	T	0.71	.	5.1157	0.14833	0.4867:0.0:0.5133:0.0	.	188	Q68D06	SLN13_HUMAN	L	188	ENSP00000285013:P188L;ENSP00000434439:P188L;ENSP00000444016:P188L	ENSP00000285013:P188L	P	-	2	0	SLFN13	30796250	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.056000	0.11787	0.188000	0.20168	-0.351000	0.07748	CCT	-	NULL		0.348	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	protein_coding	OTTHUMT00000381883.1	G	NM_144682	-		33772137	-1	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	SNP	0.000	A	A	33772137	G	A	33772137	3	1	196	1	0	0	0	0	1	0	0	0	14744	1000	35	2	2146	2	SLFN13	17	33772137	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4175	33772137	47423073	1847	15119	342	2									
SLFN13	146857	genome.wustl.edu	37	chr17	33772138	33772138	+	Missense_Mutation	SNP	G	G	A													ttggaaaacttcatatgcagGatttgactcagatatgttct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33772138G>A	ENST00000285013.6	-	3	837	c.562C>T	c.(562-564)Cct>Tct	p.P188S	SLFN13_ENST00000542635.1_Missense_Mutation_p.P188S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P188S|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.P188S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	188						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCATATGCAGGATTTGACTCA	0.353																																																	0								ENSG00000154760						114	122	120					17																	33772138		2203	4300	6503	SLFN13	SO:0001583	missense	0			-	HGNC	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.562C>T	17.37:g.33772138G>A	ENSP00000285013:p.Pro188Ser	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P188S	ENST00000285013.6	37	c.562	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.664998	0.00765	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.01821	4.62;4.62;4.62	3.39	-2.62	0.06152	.	0.631717	0.13183	N	0.407305	T	0.01222	0.0040	L	0.28458	0.855	0.09310	N	1	B	0.19445	0.036	B	0.19391	0.025	T	0.48317	-0.9046	10	0.14656	T	0.56	.	4.0903	0.09967	0.5029:0.1921:0.305:0.0	.	188	Q68D06	SLN13_HUMAN	S	188	ENSP00000285013:P188S;ENSP00000434439:P188S;ENSP00000444016:P188S	ENSP00000285013:P188S	P	-	1	0	SLFN13	30796251	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.638000	0.05452	-0.360000	0.08138	0.514000	0.50259	CCT	-	NULL		0.353	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	protein_coding	OTTHUMT00000381883.1	G	NM_144682	-		33772138	-1	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	SNP	0.005	A	A	33772138	G	A	33772138	3	1	196	1	0	0	0	0	1	0	0	0	14744	1174	41	2	2147	2	SLFN13	17	33772138	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	33772138	47423072	1848	15120	342	2									
HNF1B	6928	genome.wustl.edu	37	chr17	36093708	36093708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggcatcatcggactgCccaggcccatggctctgttg	13	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:36093708C>T	ENST00000225893.4	-	3	1012	c.651G>A	c.(649-651)ggG>ggA	p.G217G	HNF1B_ENST00000561193.1_Silent_p.G191G|HNF1B_ENST00000427275.2_Silent_p.G191G|HNF1B_ENST00000560016.1_Silent_p.G217G	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	217					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|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)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CATCGGACTGCCCAGGCCCAT	0.547																																					Colon(71;102 1179 9001 27917 43397)												0								ENSG00000108753						79	72	74					17																	36093708		2203	4300	6503	HNF1B	SO:0001819	synonymous_variant	0			-	HGNC	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.651G>A	17.37:g.36093708C>T		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	B4DKM3|E0YMJ9	Silent	SNP							pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G217	ENST00000225893.4	37	c.651	CCDS11324.1	17																																																																																			-	NULL		0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	protein_coding	OTTHUMT00000256807.3	C	NM_000458	-		36093708	-1	no_errors	ENST00000225893	ensembl	human	known	74_37	silent	SNP	1.000	T	T	36093708	C	T	36093708	2	4	196	1	0	0	0	0	0	0	0	1	7254	726	26	2		2	HNF1B	17	36093708	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2321570	36093708	45101502	1849	15121											
GPR179	440435	genome.wustl.edu	37	chr17	36484307	36484307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcccaaagccctttcCtcccctgctccagcacccac	4	22	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:36484307C>T	ENST00000342292.4	-	11	5165	c.5145G>A	c.(5143-5145)gaG>gaA	p.E1715E	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1715					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGCCCTTTCCTCCCCTGCTC	0.537																																																	0								ENSG00000188888						73	76	75					17																	36484307		1950	4155	6105	GPR179	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5145G>A	17.37:g.36484307C>T		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00		Silent	SNP							pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.E1715	ENST00000342292.4	37	c.5145	CCDS42308.1	17																																																																																			-	NULL		0.537	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	protein_coding	OTTHUMT00000255329.2	C		-		36484307	-1	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	SNP	0.031	T	T	36484307	C	T	36484307	2	4	196	1	0	0	0	0	0	0	0	1	6676	680	24	2		2	GPR179	17	36484307	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	390599	36484307	44710903	1850	15122											
MED1	5469	genome.wustl.edu	37	chr17	37563928	37563928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtctcggtctttgtcccGgtctcggtccctatctttgt	9	13	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:37563928G>A	ENST00000300651.6	-	17	4769	c.4546C>T	c.(4546-4548)Cgg>Tgg	p.R1516W	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tctttgtcccggtctcggtcc	0.428										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0								ENSG00000125686						181	160	167					17																	37563928		2203	4300	6503	MED1	SO:0001583	missense	0			-	HGNC	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4546C>T	17.37:g.37563928G>A	ENSP00000300651:p.Arg1516Trp	Somatic	0	49	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP							pfam_Mediator_Med1_met/fun	p.R1516W	ENST00000300651.6	37	c.4546	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184445	0.38609	.	.	ENSG00000125686	ENST00000300651	T	0.37235	1.21	5.26	3.21	0.36854	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.41237	D	0.986612	B	0.10296	0.003	B	0.01281	0.0	T	0.05037	-1.0910	9	0.87932	D	0	-6.4119	8.1619	0.31204	0.0817:0.0:0.7578:0.1605	.	1516	Q15648	MED1_HUMAN	W	1516	ENSP00000300651:R1516W	ENSP00000300651:R1516W	R	-	1	2	MED1	34817454	0.999000	0.42202	0.998000	0.56505	0.847000	0.48162	1.681000	0.37618	0.552000	0.29026	-0.150000	0.13652	CGG	-	NULL		0.428	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	protein_coding	OTTHUMT00000256943.3	G	NM_004774	-		37563928	-1	no_errors	ENST00000300651	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37563928	G	A	37563928	3	1	196	1	0	0	0	0	1	0	0	0	9427	1115	39	1	203	1	MED1	17	37563928	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1079621	37563928	43631282	1851	15123											
CDK12	51755	genome.wustl.edu	37	chr17	37627629	37627629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaggagattgttactcCaaaggagacagaaacatcag	11	6	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:37627629C>T	ENST00000447079.4	+	2	1577	c.1544C>T	c.(1543-1545)cCa>cTa	p.P515L	CDK12_ENST00000430627.2_Missense_Mutation_p.P515L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	515					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATTGTTACTCCAAAGGAGACA	0.473			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0								ENSG00000167258						123	134	130					17																	37627629		2203	4300	6503	CDK12	SO:0001583	missense	0			-	HGNC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1544C>T	17.37:g.37627629C>T	ENSP00000398880:p.Pro515Leu	Somatic	0	68	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	52	37.35	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P515L	ENST00000447079.4	37	c.1544	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694725	0.48202	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69685	-0.42;-0.42	5.99	3.97	0.46021	.	0.290281	0.24967	N	0.034166	T	0.51381	0.1671	N	0.24115	0.695	0.54753	D	0.999988	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.47849	-0.9085	10	0.72032	D	0.01	-0.6452	10.3061	0.43680	0.1356:0.7949:0.0:0.0695	.	514;515;515	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	515	ENSP00000407720:P515L;ENSP00000398880:P515L	ENSP00000407720:P515L	P	+	2	0	CDK12	34881155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.729000	0.54999	0.829000	0.34733	0.655000	0.94253	CCA	-	NULL		0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	protein_coding	OTTHUMT00000256941.4	C	NM_016507	-		37627629	1	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37627629	C	T	37627629	3	4	196	1	0	0	0	0	1	0	0	0	3130	594	21	2	1550	2	CDK12	17	37627629	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	63701	37627629	43567581	1852	15124											
IGFBP4	3487	genome.wustl.edu	37	chr17	38610307	38610307	+	Missense_Mutation	SNP	C	C	T													ccgcaacggcaacttccaccCcaagcaggtgggtctctgtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:38610307C>T	ENST00000269593.4	+	3	910	c.635C>T	c.(634-636)cCc>cTc	p.P212L	IGFBP4_ENST00000542955.1_Missense_Mutation_p.P112L	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	212	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AACTTCCACCCCAAGCAGGTG	0.652																																					GBM(160;940 3581 26177)												0								ENSG00000141753						113	106	109					17																	38610307		2203	4300	6503	IGFBP4	SO:0001583	missense	0			-	HGNC	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.635C>T	17.37:g.38610307C>T	ENSP00000269593:p.Pro212Leu	Somatic	0	43	0		0.52429534266604	371	9.05	37	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP							pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4	p.P212L	ENST00000269593.4	37	c.635	CCDS11367.1	17	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389693	0.61956	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.68181	-0.31;-0.31	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.169410	0.52532	D	0.000063	T	0.64283	0.2584	L	0.50919	1.6	0.53688	D	0.999978	B	0.18741	0.03	B	0.24006	0.05	T	0.57195	-0.7853	10	0.31617	T	0.26	-10.9435	18.0867	0.89460	0.0:1.0:0.0:0.0	.	212	P22692	IBP4_HUMAN	L	112;212	ENSP00000437734:P112L;ENSP00000269593:P212L	ENSP00000269593:P212L	P	+	2	0	IGFBP4	35863833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.907000	0.56348	2.793000	0.96121	0.655000	0.94253	CCC	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata		0.652	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP4	protein_coding	OTTHUMT00000257134.1	C	NM_001552	-		38610307	1	no_errors	ENST00000269593	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38610307	C	T	38610307	3	4	196	1	0	0	0	0	1	0	0	0	7583	623	22	2	645	2	IGFBP4	17	38610307	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	982678	38610307	42584903	1853	15125	343	2									
IGFBP4	3487	genome.wustl.edu	37	chr17	38610308	38610308	+	Silent	SNP	C	C	T													cgcaacggcaacttccacccCaagcaggtgggtctctgtct					rs367907472		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:38610308C>T	ENST00000269593.4	+	3	911	c.636C>T	c.(634-636)ccC>ccT	p.P212P	IGFBP4_ENST00000542955.1_Silent_p.P112P	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	212	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACTTCCACCCCAAGCAGGTGG	0.647																																					GBM(160;940 3581 26177)												0								ENSG00000141753						112	106	108					17																	38610308		2203	4300	6503	IGFBP4	SO:0001819	synonymous_variant	0			-	HGNC	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.636C>T	17.37:g.38610308C>T		Somatic	0	44	0		0.52429534266604	362	7.42	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP							pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4	p.P212	ENST00000269593.4	37	c.636	CCDS11367.1	17																																																																																			-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata		0.647	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP4	protein_coding	OTTHUMT00000257134.1	C	NM_001552	-		38610308	1	no_errors	ENST00000269593	ensembl	human	known	74_37	silent	SNP	1.000	T	T	38610308	C	T	38610308	2	4	196	1	0	0	0	0	0	0	0	1	7583	581	21	2		2	IGFBP4	17	38610308	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	38610308	42584902	1854	15126	343	2									
KRT10	3858	genome.wustl.edu	37	chr17	38975339	38975339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccgccgtggccgccgccgGagcttccgccgccggagctt	15	19	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:38975339G>A	ENST00000269576.5	-	7	1457	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	483	Gly-rich.|Ser-rich.|Tail.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				gccgccgccggagcttccgcc	0.771																																																	0								ENSG00000186395						2	2	2					17																	38975339		863	1997	2860	KRT10	SO:0001583	missense	0			-	HGNC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1448C>T	17.37:g.38975339G>A	ENSP00000269576:p.Ser483Phe	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q14664|Q8N175	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S483F	ENST00000269576.5	37	c.1448	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160626	0.38119	.	.	ENSG00000186395	ENST00000269576	D	0.84223	-1.82	4.74	2.48	0.30137	.	.	.	.	.	T	0.66597	0.2805	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47774	-0.9091	9	0.10111	T	0.7	.	7.9104	0.29787	0.0:0.0807:0.1769:0.7424	.	483	P13645	K1C10_HUMAN	F	483	ENSP00000269576:S483F	ENSP00000269576:S483F	S	-	2	0	KRT10	36228865	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-0.594000	0.05733	-0.179000	0.10654	-3.893000	0.00017	TCC	-	NULL		0.771	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	protein_coding	OTTHUMT00000257875.1	G	NM_000421	-		38975339	-1	no_errors	ENST00000269576	ensembl	human	known	74_37	missense	SNP	0.081	A	A	38975339	G	A	38975339	3	1	196	1	0	0	0	0	1	0	0	0	8450	1174	41	2	314	2	KRT10	17	38975339	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	365031	38975339	42219871	1855	15127											
KRT12	3859	genome.wustl.edu	37	chr17	39022967	39022967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtgtttcataccattctcGaattttattttctagctcag	5	9	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39022967G>A	ENST00000251643.4	-	1	495	c.472C>T	c.(472-474)Cga>Tga	p.R158*		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	158	Coil 1A.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TACCATTCTCGAATTTTATTT	0.388																																																	0								ENSG00000187242						116	118	117					17																	39022967		2203	4300	6503	KRT12	SO:0001587	stop_gained	0			-	HGNC		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.472C>T	17.37:g.39022967G>A	ENSP00000251643:p.Arg158*	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2R9E0	Nonsense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R158*	ENST00000251643.4	37	c.472	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.348908	0.95807	.	.	ENSG00000187242	ENST00000251643	.	.	.	5.91	3.84	0.44239	.	0.172038	0.27640	N	0.018465	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1636	0.72803	0.0:0.0:0.6272:0.3728	.	.	.	.	X	158	.	ENSP00000251643:R158X	R	-	1	2	KRT12	36276493	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	1.249000	0.32839	1.488000	0.48433	-0.169000	0.13324	CGA	-	pfam_IF		0.388	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	protein_coding	OTTHUMT00000257214.2	G	NM_000223	-		39022967	-1	no_errors	ENST00000251643	ensembl	human	known	74_37	nonsense	SNP	0.997	A	A	39022967	G	A	39022967	4	1	196	1	0	0	0	0	0	1	0	0	8451	1066	37	1	1044	1	KRT12	17	39022967	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	47628	39022967	42172243	1856	15128											
KRT20	54474	genome.wustl.edu	37	chr17	39032616	39032616	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccttctggtagctatttaGatattttcttccacctcttt	4	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39032616G>A	ENST00000167588.3	-	8	1313	c.1272C>T	c.(1270-1272)atC>atT	p.I424I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	424	Tail.				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)				TAGCTATTTAGATATTTTCTT	0.388																																																	0								ENSG00000171431						156	142	147					17																	39032616		2203	4300	6503	KRT20	SO:0001819	synonymous_variant	0			-	HGNC	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.1272C>T	17.37:g.39032616G>A		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	53	13.11	B2R6W7	Silent	SNP							pfam_IF,prints_Keratin_I	p.I424	ENST00000167588.3	37	c.1272	CCDS11379.1	17																																																																																			-	NULL		0.388	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	protein_coding	OTTHUMT00000257202.2	G		-		39032616	-1	no_errors	ENST00000167588	ensembl	human	known	74_37	silent	SNP	0.000	A	A	39032616	G	A	39032616	2	1	196	1	0	0	0	0	0	0	0	1	8460	932	33	2		2	KRT20	17	39032616	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9649	39032616	42162594	1857	15129											
KRT36	8689	genome.wustl.edu	37	chr17	39643899	39643899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtactggcatctcatatCctccaggatcttgttgagat	8	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39643899C>T	ENST00000328119.6	-	4	789	c.790G>A	c.(790-792)Gat>Aat	p.D264N	KRT36_ENST00000393986.2_Missense_Mutation_p.D214N	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	264	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CATCTCATATCCTCCAGGATC	0.592																																																	0								ENSG00000126337						132	117	122					17																	39643899		2203	4300	6503	KRT36	SO:0001583	missense	0			-	HGNC	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.790G>A	17.37:g.39643899C>T	ENSP00000329165:p.Asp264Asn	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	38	30.91	Q86XG4	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.D264N	ENST00000328119.6	37	c.790	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865004	0.91511	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.40476	1.03;1.03	5.83	5.83	0.93111	Filament (1);	0.239822	0.28841	N	0.013965	T	0.51024	0.1650	M	0.66297	2.02	0.49483	D	0.999792	P	0.34615	0.459	B	0.39465	0.3	T	0.48736	-0.9009	10	0.48119	T	0.1	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	264	O76013	KRT36_HUMAN	N	214;264	ENSP00000377555:D214N;ENSP00000329165:D264N	ENSP00000329165:D264N	D	-	1	0	KRT36	36897425	0.998000	0.40836	0.997000	0.53966	0.885000	0.51271	3.904000	0.56325	2.769000	0.95229	0.655000	0.94253	GAT	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.592	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	protein_coding	OTTHUMT00000259508.1	C	NM_003771	-		39643899	-1	no_errors	ENST00000328119	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39643899	C	T	39643899	3	4	196	1	0	0	0	0	1	0	0	0	8475	855	30	2	629	2	KRT36	17	39643899	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	611283	39643899	41551311	1858	15130											
KRT14	3861	genome.wustl.edu	37	chr17	39739349	39739349	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggaggagggtcttaccatCtctggatgactgcgatccag	14	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739349C>T	ENST00000167586.6	-	7	1404	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	440	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTCTTACCATCTCTGGATGAC	0.582																																																	0								ENSG00000186847						69	77	74					17																	39739349		2203	4300	6503	KRT14	SO:0001583	missense	0			-	HGNC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1318G>A	17.37:g.39739349C>T	ENSP00000167586:p.Asp440Asn	Somatic	0	43	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	52	38.82	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.D440N	ENST00000167586.6	37	c.1318	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671751	0.47781	.	.	ENSG00000186847	ENST00000167586	D	0.87809	-2.3	5.61	5.61	0.85477	.	0.380247	0.22426	N	0.060208	T	0.74168	0.3681	N	0.14661	0.345	0.46478	D	0.999068	P	0.40000	0.698	B	0.29862	0.108	T	0.74844	-0.3526	10	0.25106	T	0.35	.	15.499	0.75680	0.0:1.0:0.0:0.0	.	440	P02533	K1C14_HUMAN	N	440	ENSP00000167586:D440N	ENSP00000167586:D440N	D	-	1	0	KRT14	36992875	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	2.959000	0.49153	2.808000	0.96608	0.655000	0.94253	GAT	-	NULL		0.582	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	C	NM_000526	-		39739349	-1	no_errors	ENST00000167586	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39739349	C	T	39739349	3	4	196	1	0	0	0	0	1	0	0	0	8453	913	32	2	108	2	KRT14	17	39739349	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	95450	39739349	41455861	1859	15131											
KRT14	3861	genome.wustl.edu	37	chr17	39739693	39739693	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggtctcctccaggctgttCtccagggatgctttctgtga	11	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739693C>T	ENST00000167586.6	-	6	1154	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	356	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCAGGCTGTTCTCCAGGGATG	0.607																																																	0								ENSG00000186847						44	45	44					17																	39739693		2203	4300	6503	KRT14	SO:0001819	synonymous_variant	0			-	HGNC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1068G>A	17.37:g.39739693C>T		Somatic	0	46	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	60	25.93	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E356	ENST00000167586.6	37	c.1068	CCDS11400.1	17																																																																																			-	pfam_IF		0.607	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	C	NM_000526	-		39739693	-1	no_errors	ENST00000167586	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39739693	C	T	39739693	2	4	196	1	0	0	0	0	0	0	0	1	8453	912	32	2		2	KRT14	17	39739693	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	344	39739693	41455517	1860	15132											
KRT14	3861	genome.wustl.edu	37	chr17	39739832	39739832	+	Missense_Mutation	SNP	C	C	T													ctgggactgcagctcaatctCcaggttctgcatggtgcgcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739832C>T	ENST00000167586.6	-	5	1110	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	342	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGCTCAATCTCCAGGTTCTGC	0.612																																																	0								ENSG00000186847						80	73	76					17																	39739832		2203	4300	6503	KRT14	SO:0001583	missense	0			-	HGNC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1024G>A	17.37:g.39739832C>T	ENSP00000167586:p.Glu342Lys	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E342K	ENST00000167586.6	37	c.1024	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035146	0.93575	.	.	ENSG00000186847	ENST00000167586	D	0.89343	-2.5	5.22	5.22	0.72569	Filament (1);	0.000000	0.53938	D	0.000046	D	0.95541	0.8551	M	0.89478	3.035	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96071	0.9046	10	0.87932	D	0	.	19.1487	0.93479	0.0:1.0:0.0:0.0	.	342	P02533	K1C14_HUMAN	K	342	ENSP00000167586:E342K	ENSP00000167586:E342K	E	-	1	0	KRT14	36993358	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.080000	0.71299	2.586000	0.87340	0.655000	0.94253	GAG	-	pfam_IF,prints_Keratin_I		0.612	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	C	NM_000526	-		39739832	-1	no_errors	ENST00000167586	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39739832	C	T	39739832	3	4	196	1	0	0	0	0	1	0	0	0	8453	864	30	2	410	2	KRT14	17	39739832	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	139	39739832	41455378	1861	15133	344	2									
KRT14	3861	genome.wustl.edu	37	chr17	39739833	39739833	+	Silent	SNP	C	C	T													tgggactgcagctcaatctcCaggttctgcatggtgcgccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739833C>T	ENST00000167586.6	-	5	1109	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	341	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCTCAATCTCCAGGTTCTGCA	0.612																																																	0								ENSG00000186847						81	73	76					17																	39739833		2203	4300	6503	KRT14	SO:0001819	synonymous_variant	0			-	HGNC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1023G>A	17.37:g.39739833C>T		Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L341	ENST00000167586.6	37	c.1023	CCDS11400.1	17																																																																																			-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.612	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	C	NM_000526	-		39739833	-1	no_errors	ENST00000167586	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39739833	C	T	39739833	2	4	196	1	0	0	0	0	0	0	0	1	8453	581	21	2		2	KRT14	17	39739833	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	39739833	41455377	1862	15134	344	2									
HAP1	9001	genome.wustl.edu	37	chr17	39888487	39888487	+	Missense_Mutation	SNP	C	C	T													tccccacccggttacctcctCcttggctgagcccagcaggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39888487C>T	ENST00000310778.5	-	3	718	c.709G>A	c.(709-711)Gag>Aag	p.E237K	JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000341193.5_Missense_Mutation_p.E245K|HAP1_ENST00000347901.4_Missense_Mutation_p.E237K|HAP1_ENST00000393939.2_Missense_Mutation_p.E237K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	237	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTTACCTCCTCCTTGGCTGAG	0.607																																																	0								ENSG00000173805						66	64	64					17																	39888487		2203	4300	6503	HAP1	SO:0001583	missense	0			-	HGNC	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.709G>A	17.37:g.39888487C>T	ENSP00000309392:p.Glu237Lys	Somatic	0	73	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	69	32.35	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP							pfam_HAP1_N	p.E237K	ENST00000310778.5	37	c.709		17	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096423	0.36952	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	3.79	2.81	0.32909	.	0.172190	0.28119	N	0.016521	T	0.20820	0.0501	M	0.64170	1.965	0.43719	D	0.996191	P;P;B;B	0.35155	0.487;0.487;0.336;0.387	B;B;B;B	0.34873	0.122;0.122;0.12;0.191	T	0.04268	-1.0964	10	0.87932	D	0	-18.7955	7.637	0.28272	0.0:0.8805:0.0:0.1195	.	237;245;237;237	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	237;237;237;245	ENSP00000377513:E237K;ENSP00000309392:E237K;ENSP00000334002:E237K;ENSP00000343170:E245K	ENSP00000309392:E237K	E	-	1	0	HAP1	37142013	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	2.456000	0.44997	0.928000	0.37168	0.561000	0.74099	GAG	-	pfam_HAP1_N		0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	protein_coding	OTTHUMT00000389619.1	C	NM_003949	-		39888487	-1	no_errors	ENST00000310778	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39888487	C	T	39888487	3	4	196	1	0	0	0	0	1	0	0	0	6955	864	30	2	1186	2	HAP1	17	39888487	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	148654	39888487	41306723	1863	15135	345	2									
HAP1	9001	genome.wustl.edu	37	chr17	39888488	39888488	+	Silent	SNP	C	C	T													ccccacccggttacctcctcCttggctgagcccagcagggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39888488C>T	ENST00000310778.5	-	3	717	c.708G>A	c.(706-708)aaG>aaA	p.K236K	JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000341193.5_Silent_p.K244K|HAP1_ENST00000347901.4_Silent_p.K236K|HAP1_ENST00000393939.2_Silent_p.K236K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	236	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTACCTCCTCCTTGGCTGAGC	0.602																																																	0								ENSG00000173805						66	64	64					17																	39888488		2203	4300	6503	HAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.708G>A	17.37:g.39888488C>T		Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	69	32.35	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP							pfam_HAP1_N	p.K236	ENST00000310778.5	37	c.708		17																																																																																			-	pfam_HAP1_N		0.602	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	protein_coding	OTTHUMT00000389619.1	C	NM_003949	-		39888488	-1	no_errors	ENST00000310778	ensembl	human	known	74_37	silent	SNP	1.000	T	T	39888488	C	T	39888488	2	4	196	1	0	0	0	0	0	0	0	1	6955	680	24	2		2	HAP1	17	39888488	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	39888488	41306722	1864	15136	345	2									
JUP	3728	genome.wustl.edu	37	chr17	39925777	39925777	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggccgacttgagcagctGggacggctcggccagtcgct	15	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39925777G>A	ENST00000393931.3	-	3	479	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	JUP_ENST00000393930.1_Nonsense_Mutation_p.Q121*|JUP_ENST00000540235.1_Nonsense_Mutation_p.Q121*|JUP_ENST00000310706.5_Nonsense_Mutation_p.Q121*	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	121					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTGGGACGGCTCG	0.652																																					Colon(16;42 520 6044 17852 28530)												0								ENSG00000173801						34	31	32					17																	39925777		2203	4300	6503	JUP	SO:0001587	stop_gained	0			-	HGNC	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.361C>T	17.37:g.39925777G>A	ENSP00000377508:p.Gln121*	Somatic	0	63	0		0.52429534266604	33	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	57	37.63	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Nonsense_Mutation	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.Q121*	ENST00000393931.3	37	c.361	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	g	30	5.055913	0.93793	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457	.	.	.	5.52	5.52	0.82312	.	0.056652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.7004	18.4331	0.90633	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000311113:Q121X	Q	-	1	0	JUP	37179303	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	9.857000	0.99534	2.593000	0.87608	0.556000	0.70494	CAG	-	prints_Beta-catenin		0.652	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	protein_coding	OTTHUMT00000257406.1	G		-		39925777	-1	no_errors	ENST00000310706	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	39925777	G	A	39925777	4	1	196	1	0	0	0	0	0	1	0	0	7974	1357	47	2	1924	2	JUP	17	39925777	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	37289	39925777	41269433	1865	15137											
CNP	1267	genome.wustl.edu	37	chr17	40120360	40120360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagatcacccccggcgctcGaggagccttctccgaggagt	12	15	2	1	rs374975038		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:40120360G>A	ENST00000393892.3	+	2	422	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	CNP_ENST00000592446.1_3'UTR|TTC25_ENST00000591658.1_RNA|CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.R73Q|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	93					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CCCGGCGCTCGAGGAGCCTTC	0.607																																																	0								ENSG00000173786	G	GLN/ARG	2,4078		0,2,2038	25	29	28		278	3.8	0.1	17		28	0,8356		0,0,4178	no	missense	CNP	NM_033133.4	43	0,2,6216	AA,AG,GG		0.0,0.049,0.0161	probably-damaging	93/422	40120360	2,12434	2040	4178	6218	CNP	SO:0001583	missense	0			-	HGNC		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.278G>A	17.37:g.40120360G>A	ENSP00000377470:p.Arg93Gln	Somatic	0	56	0		0.52429534266604	48	39.24	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	41	47.50		Missense_Mutation	SNP							pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase	p.R93Q	ENST00000393892.3	37	c.278	CCDS11414.2	17	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107036	0.56291	4.9E-4	0.0	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.42131	0.98;0.98	4.83	3.83	0.44106	Zeta toxin domain (1);	0.129130	0.51477	D	0.000085	T	0.35998	0.0951	L	0.60067	1.865	0.58432	D	0.999999	P;B;B	0.49307	0.922;0.275;0.232	B;B;B	0.36845	0.234;0.033;0.039	T	0.42582	-0.9443	10	0.48119	T	0.1	-14.4685	13.6299	0.62189	0.077:0.0:0.923:0.0	.	93;93;73	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	Q	93;93;73	ENSP00000377470:R93Q;ENSP00000377466:R73Q	ENSP00000309643:R93Q	R	+	2	0	CNP	37373886	0.600000	0.26899	0.090000	0.20809	0.994000	0.84299	2.454000	0.44979	2.510000	0.84645	0.455000	0.32223	CGA	-	pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_CNPase		0.607	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	protein_coding	OTTHUMT00000257443.2	G		-		40120360	1	no_errors	ENST00000393892	ensembl	human	known	74_37	missense	SNP	0.285	A	A	40120360	G	A	40120360	3	1	196	1	0	0	0	0	1	0	0	0	3628	1058	37	1	284	1	CNP	17	40120360	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	194583	40120360	41074850	1866	15138											
COASY	80347	genome.wustl.edu	37	chr17	40717723	40717723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcagtgaagccgcggCtcaaagccggctgcagagcc	14	14	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:40717723C>T	ENST00000393818.2	+	8	1988	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	COASY_ENST00000420359.1_Missense_Mutation_p.A511V|MLX_ENST00000435881.2_5'Flank|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000449624.1_Missense_Mutation_p.A216V|COASY_ENST00000590958.1_Missense_Mutation_p.A540V|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.A511V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	511	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAAGCCGCGGCTCAAAGCCGG	0.582																																																	0								ENSG00000068120						42	44	43					17																	40717723		2203	4300	6503	COASY	SO:0001583	missense	0			-	HGNC	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1532C>T	17.37:g.40717723C>T	ENSP00000377406:p.Ala511Val	Somatic	0	16	0		0.52429534266604	423	33.85	219	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP							pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	p.A540V	ENST00000393818.2	37	c.1619	CCDS11429.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647748	0.87958	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T	0.37915	1.17;1.17;1.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.62209	1.925	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59948	0.866;0.852	T	0.58103	-0.7695	10	0.87932	D	0	-12.9808	18.4586	0.90729	0.0:1.0:0.0:0.0	.	540;511	Q13057-2;Q13057	.;COASY_HUMAN	V	540;216;511;511	ENSP00000407740:A216V;ENSP00000413338:A511V;ENSP00000377406:A511V	ENSP00000377406:A511V	A	+	2	0	COASY	37971249	1.000000	0.71417	0.167000	0.22817	0.714000	0.41099	7.270000	0.78493	2.628000	0.89032	0.561000	0.74099	GCT	-	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase		0.582	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	protein_coding	OTTHUMT00000450409.1	C	NM_025233	-		40717723	1	no_errors	ENST00000590958	ensembl	human	known	74_37	missense	SNP	0.997	T	T	40717723	C	T	40717723	3	4	196	1	0	0	0	0	1	0	0	0	3654	797	28	2	1653	2	COASY	17	40717723	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	597363	40717723	40477487	1867	15139											
WNK4	65266	genome.wustl.edu	37	chr17	40940798	40940798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggatggggacagcccggaaGagattgcagctgccatggtg	17	8	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:40940798G>A	ENST00000246914.5	+	11	2161	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	714					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)			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)		CAGCCCGGAAGAGATTGCAGC	0.542																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								ENSG00000126562						113	89	97					17																	40940798		2203	4300	6503	WNK4	SO:0001583	missense	0			-	HGNC	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.2140G>A	17.37:g.40940798G>A	ENSP00000246914:p.Glu714Lys	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	58	43.14	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E714K	ENST00000246914.5	37	c.2140	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.134599	0.94517	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.35048	1.33	4.98	4.98	0.66077	.	0.000000	0.49916	D	0.000134	T	0.56124	0.1964	M	0.64997	1.995	0.50632	D	0.99988	D;D;D;D	0.71674	0.998;0.993;0.988;0.988	D;P;P;P	0.66084	0.941;0.879;0.76;0.696	T	0.54207	-0.8328	10	0.44086	T	0.13	-20.9371	17.1747	0.86838	0.0:0.0:1.0:0.0	.	58;714;714;714	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	K	714;486;58	ENSP00000246914:E714K	ENSP00000246914:E714K	E	+	1	0	WNK4	38194324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.598000	0.87819	0.655000	0.94253	GAG	-	NULL		0.542	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	protein_coding	OTTHUMT00000452389.1	G		-		40940798	1	no_errors	ENST00000246914	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40940798	G	A	40940798	3	1	196	1	0	0	0	0	1	0	0	0	17387	943	33	2	2182	2	WNK4	17	40940798	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	223075	40940798	40254412	1868	15140											
DHX8	1659	genome.wustl.edu	37	chr17	41570931	41570931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgctgtccttcactGggaccaagaccagcctgagc	10	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41570931G>T	ENST00000262415.3	+	7	1054	c.982G>T	c.(982-984)Ggg>Tgg	p.G328W	DHX8_ENST00000540306.1_Missense_Mutation_p.G328W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	328	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTCCTTCACTGGGACCAAGAC	0.552																																					NSCLC(56;1548 1661 49258 49987)												0								ENSG00000067596						163	142	149					17																	41570931		2203	4300	6503	DHX8	SO:0001583	missense	0			-	HGNC	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.982G>T	17.37:g.41570931G>T	ENSP00000262415:p.Gly328Trp	Somatic	0	46	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	94	11.32		Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G328W	ENST00000262415.3	37	c.982	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597298	0.87055	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.42131	0.98;0.98	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.102550	0.64402	D	0.000002	T	0.57198	0.2037	L	0.60957	1.885	0.80722	D	1	P;P	0.48294	0.577;0.908	B;P	0.54431	0.431;0.752	T	0.58216	-0.7675	10	0.87932	D	0	.	18.8428	0.92190	0.0:0.0:1.0:0.0	.	328;328	F5H658;Q14562	.;DHX8_HUMAN	W	328	ENSP00000437886:G328W;ENSP00000262415:G328W	ENSP00000262415:G328W	G	+	1	0	DHX8	38926457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.407000	0.97325	2.697000	0.92050	0.655000	0.94253	GGG	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom		0.552	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	protein_coding	OTTHUMT00000453485.1	G		-		41570931	1	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41570931	G	T	41570931	3	4	196	1	0	0	0	0	1	0	0	0	4517	1348	47	3	1008	3	DHX8	17	41570931	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	630133	41570931	39624279	1869	15141											
DHX8	1659	genome.wustl.edu	37	chr17	41571141	41571141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagacctcaatgcggaatCctgatagacccactcacttg	9	12	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41571141C>T	ENST00000262415.3	+	8	1171	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	DHX8_ENST00000540306.1_Missense_Mutation_p.P367S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	367					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AATGCGGAATCCTGATAGACC	0.517																																					NSCLC(56;1548 1661 49258 49987)												0								ENSG00000067596						170	178	175					17																	41571141		2203	4300	6503	DHX8	SO:0001583	missense	0			-	HGNC	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1099C>T	17.37:g.41571141C>T	ENSP00000262415:p.Pro367Ser	Somatic	0	133	0		0.52429534266604	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	120	20.53		Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P367S	ENST00000262415.3	37	c.1099	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163550	0.78226	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.02974	4.09;4.1	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.71581	2.175	0.80722	D	1	P;B	0.49635	0.926;0.23	P;B	0.54346	0.749;0.032	T	0.08027	-1.0742	10	0.26408	T	0.33	.	19.0289	0.92946	0.0:1.0:0.0:0.0	.	367;367	F5H658;Q14562	.;DHX8_HUMAN	S	367	ENSP00000437886:P367S;ENSP00000262415:P367S	ENSP00000262415:P367S	P	+	1	0	DHX8	38926667	1.000000	0.71417	0.883000	0.34634	0.964000	0.63967	7.453000	0.80700	2.746000	0.94184	0.561000	0.74099	CCT	-	NULL		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	protein_coding	OTTHUMT00000453485.1	C		-		41571141	1	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41571141	C	T	41571141	3	4	196	1	0	0	0	0	1	0	0	0	4517	855	30	2	1129	2	DHX8	17	41571141	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	210	41571141	39624069	1870	15142											
CD300LG	146894	genome.wustl.edu	37	chr17	41926258	41926258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatctctctgttcgtctttCcaggtaacagatatctctcc	6	12	4	2	rs556684443		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41926258C>T	ENST00000317310.4	+	2	417	c.376C>T	c.(376-378)Cca>Tca	p.P126S	CD300LG_ENST00000377203.4_Missense_Mutation_p.P126S|CD300LG_ENST00000588884.1_Missense_Mutation_p.P126S|CD300LG_ENST00000586233.1_Missense_Mutation_p.P126S|CD300LG_ENST00000539718.1_Missense_Mutation_p.P126S|CD300LG_ENST00000293396.8_Missense_Mutation_p.P126S	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	126					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTTCGTCTTTCCAGGTAACAG	0.567																																																	0								ENSG00000161649						74	66	68					17																	41926258		2203	4300	6503	CD300LG	SO:0001583	missense	0			-	HGNC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.376C>T	17.37:g.41926258C>T	ENSP00000321005:p.Pro126Ser	Somatic	0	18	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P126S	ENST00000317310.4	37	c.376	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	C	9.038	0.989061	0.18966	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	4.89	-0.769	0.11009	Immunoglobulin-like fold (1);	0.495817	0.17256	N	0.180978	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;P;B;B;P;B	0.35872	0.427;0.525;0.0;0.001;0.525;0.314	B;B;B;B;B;B	0.40256	0.324;0.25;0.005;0.005;0.25;0.106	T	0.40590	-0.9555	10	0.59425	D	0.04	.	5.2597	0.15565	0.0:0.4768:0.2657:0.2575	.	126;126;126;126;126;126	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	S	126	ENSP00000321005:P126S;ENSP00000442368:P126S;ENSP00000366408:P126S;ENSP00000293396:P126S	ENSP00000293396:P126S	P	+	1	0	CD300LG	39281784	0.044000	0.20184	0.047000	0.18901	0.002000	0.02628	0.148000	0.16224	-0.025000	0.13918	-2.181000	0.00316	CCA	-	NULL		0.567	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	protein_coding	OTTHUMT00000457646.1	C	NM_145273	-		41926258	1	no_errors	ENST00000317310	ensembl	human	known	74_37	missense	SNP	0.013	T	T	41926258	C	T	41926258	3	4	196	1	0	0	0	0	1	0	0	0	3004	855	30	2	382	2	CD300LG	17	41926258	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	355117	41926258	39268952	1871	15143											
ATXN7L3	79089	genome.wustl.edu	37	chr17	42271725	42271725	+	IGR	DEL	A	A	-													ggccggaggcagtccctaccAggctcagatgggatttcttt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42271725delA	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000454077.2_Frame_Shift_Del_p.L324fs|ATXN7L3_ENST00000389384.4_Frame_Shift_Del_p.L317fs|ATXN7L3_ENST00000593073.1_5'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGTCCCTACCAGGCTCAGATG	0.517																																																	0								ENSG00000087152						150	154	153					17																	42271725		2021	4188	6209	ATXN7L3	SO:0001628	intergenic_variant	0				HGNC		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42271725delA		Somatic	0	59	0		0.52429534266604	37	17.78	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	44	33.33	B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Frame_Shift_Del	DEL							pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.L324fs	ENST00000587989.1	37	c.971	CCDS54134.1	17																																																																																			-	NULL		0.517	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	protein_coding	OTTHUMT00000457711.1	A	NM_177441			42271725	-1	no_errors	ENST00000454077	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	42271725	A	-	42271725	6	5	196	0	1	1	0	1	0	0	0	0	1218	188	7	0		0	ATXN7L3	17	42271725	IGR	DEL	A	TCGA-QC-A7B5-01A-11D-A33E-09	345467	42271725	38923485	1872	15144											
SLC25A39	51629	genome.wustl.edu	37	chr17	42399810	42399810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccagtgaagcgggtagGgtcttgaaaccaggtggcac	17	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42399810G>A	ENST00000377095.5	-	5	420	c.301C>T	c.(301-303)Cct>Tct	p.P101S	SLC25A39_ENST00000225308.8_Missense_Mutation_p.P93S|SLC25A39_ENST00000590194.1_Missense_Mutation_p.P93S|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.P78S	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	101					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGCGGGTAGGGTCTTGAAAC	0.602																																																	0								ENSG00000013306						98	78	85					17																	42399810		2203	4300	6503	SLC25A39	SO:0001583	missense	0			-	HGNC	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.301C>T	17.37:g.42399810G>A	ENSP00000366299:p.Pro101Ser	Somatic	0	53	0		0.52429534266604	264	31.07	119	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	44	38.89	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P101S	ENST00000377095.5	37	c.301	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844829	0.71603	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78246	-1.16;-1.16;-1.16	5.38	5.38	0.77491	Mitochondrial carrier domain (2);	0.122142	0.56097	D	0.000025	T	0.79493	0.4455	N	0.17312	0.475	0.58432	D	0.999995	D;D;B;D;B	0.89917	1.0;1.0;0.238;0.976;0.095	D;D;B;P;B	0.97110	0.993;1.0;0.101;0.859;0.061	T	0.74999	-0.3472	10	0.18276	T	0.48	-28.2604	18.9412	0.92605	0.0:0.0:1.0:0.0	.	86;93;78;101;93	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	S	93;101;78	ENSP00000225308:P93S;ENSP00000366299:P101S;ENSP00000444540:P78S	ENSP00000225308:P93S	P	-	1	0	SLC25A39	39755336	1.000000	0.71417	0.984000	0.44739	0.506000	0.33950	5.049000	0.64244	2.793000	0.96121	0.655000	0.94253	CCT	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.602	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	protein_coding	OTTHUMT00000457745.1	G	NM_016016	-		42399810	-1	no_errors	ENST00000377095	ensembl	human	known	74_37	missense	SNP	0.999	A	A	42399810	G	A	42399810	3	1	196	1	0	0	0	0	1	0	0	0	14511	1232	43	2	810	2	SLC25A39	17	42399810	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	128085	42399810	38795400	1873	15145											
ITGA2B	3674	genome.wustl.edu	37	chr17	42452037	42452037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacactcacctgagcttccCctcggggcaggctgagcggg	13	16	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42452037C>A	ENST00000262407.5	-	28	2964	c.2933G>T	c.(2932-2934)gGg>gTg	p.G978V	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	978					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTGAGCTTCCCCTCGGGGCAG	0.632																																																	0								ENSG00000005961						49	54	52					17																	42452037		2203	4300	6503	ITGA2B	SO:0001583	missense	0			-	HGNC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2933G>T	17.37:g.42452037C>A	ENSP00000262407:p.Gly978Val	Somatic	0	43	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	47.46	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G978V	ENST00000262407.5	37	c.2933	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712156	0.48517	.	.	ENSG00000005961	ENST00000262407	T	0.57273	0.41	4.75	4.75	0.60458	.	0.000000	0.35677	N	0.003042	T	0.74129	0.3676	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78277	-0.2266	10	0.66056	D	0.02	.	15.2608	0.73621	0.0:1.0:0.0:0.0	.	978	P08514	ITA2B_HUMAN	V	978	ENSP00000262407:G978V	ENSP00000262407:G978V	G	-	2	0	ITGA2B	39807563	0.071000	0.21146	0.972000	0.41901	0.072000	0.16883	1.352000	0.34033	2.469000	0.83416	0.561000	0.74099	GGG	-	NULL		0.632	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	protein_coding	OTTHUMT00000439823.1	C		-		42452037	-1	no_errors	ENST00000262407	ensembl	human	known	74_37	missense	SNP	0.972	A	A	42452037	C	A	42452037	3	1	196	1	0	0	0	0	1	0	0	0	7878	623	22	3	198	3	ITGA2B	17	42452037	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	52227	42452037	38743173	1874	15146											
GPATCH8	23131	genome.wustl.edu	37	chr17	42477239	42477239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggactgccactcccagGgggttctggtttgggtcctc	15	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42477239G>A	ENST00000591680.1	-	8	2236	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.P658S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	736							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)		CCACTCCCAGGGGGTTCTGGT	0.537																																																	0								ENSG00000186566						91	93	92					17																	42477239		2203	4300	6503	GPATCH8	SO:0001583	missense	0			-	HGNC	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.2206C>T	17.37:g.42477239G>A	ENSP00000467556:p.Pro736Ser	Somatic	0	24	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP							pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.P736S	ENST00000591680.1	37	c.2206	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789403	0.16258	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.10382	2.88	5.21	5.21	0.72293	.	0.128201	0.51477	D	0.000091	T	0.04952	0.0133	N	0.12182	0.205	0.23879	N	0.996587	B	0.14805	0.011	B	0.08055	0.003	T	0.43426	-0.9392	10	0.07325	T	0.83	-13.6009	8.0016	0.30299	0.0862:0.0:0.7511:0.1627	.	736	Q9UKJ3	GPTC8_HUMAN	S	736;658	ENSP00000395016:P658S	ENSP00000335486:P736S	P	-	1	0	GPATCH8	39832765	0.622000	0.27085	0.956000	0.39512	0.862000	0.49288	2.031000	0.41117	2.716000	0.92895	0.561000	0.74099	CCT	-	NULL		0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	protein_coding	OTTHUMT00000457797.1	G	NM_001002909	-		42477239	-1	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	SNP	0.095	A	A	42477239	G	A	42477239	3	1	196	1	0	0	0	0	1	0	0	0	6596	1232	43	2	2306	2	GPATCH8	17	42477239	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	25202	42477239	38717971	1875	15147											
EFTUD2	9343	genome.wustl.edu	37	chr17	42937396	42937396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggtattgaacttcaaGggtcggaaaatctgagcctg	13	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42937396G>A	ENST00000426333.2	-	18	2034	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P	EFTUD2_ENST00000591382.1_Silent_p.P579P|EFTUD2_ENST00000402521.3_Silent_p.P544P|EFTUD2_ENST00000592576.1_Silent_p.P569P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	579					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGAACTTCAAGGGTCGGAAAA	0.502																																					Ovarian(10;65 485 10258 29980 30707)												0								ENSG00000108883						112	103	106					17																	42937396		2203	4300	6503	EFTUD2	SO:0001819	synonymous_variant	0			-	HGNC	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1737C>T	17.37:g.42937396G>A		Somatic	0	35	0		0.52429534266604	84	32	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	57	32.94	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP							pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.P579	ENST00000426333.2	37	c.1737	CCDS11489.1	17																																																																																			-	NULL		0.502	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	protein_coding	OTTHUMT00000448672.1	G	NM_004247	-		42937396	-1	no_errors	ENST00000426333	ensembl	human	known	74_37	silent	SNP	0.951	A	A	42937396	G	A	42937396	2	1	196	1	0	0	0	0	0	0	0	1	4963	987	35	2		2	EFTUD2	17	42937396	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	460157	42937396	38257814	1876	15148											
KIF18B	146909	genome.wustl.edu	37	chr17	43013578	43013578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggaaccctccatcGggctcctcagggttaaacac	11	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:43013578G>A	ENST00000593135.1	-	2	232	c.135C>T	c.(133-135)ccC>ccT	p.P45P	KIF18B_ENST00000587309.1_Silent_p.P45P|KIF18B_ENST00000590129.1_Silent_p.P54P|KIF18B_ENST00000438933.2_Silent_p.P45P|KIF18B_ENST00000339151.4_Silent_p.P45P	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	54	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ACCCTCCATCGGGCTCCTCAG	0.637																																																	0								ENSG00000186185						17	21	20					17																	43013578		2031	4165	6196	KIF18B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.135C>T	17.37:g.43013578G>A		Somatic	0	88	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	130	12.16	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P45	ENST00000593135.1	37	c.135	CCDS45709.2	17																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	protein_coding	OTTHUMT00000448724.1	G	NM_001080443	-		43013578	-1	no_errors	ENST00000339151	ensembl	human	known	74_37	silent	SNP	0.197	A	A	43013578	G	A	43013578	2	1	196	1	0	0	0	0	0	0	0	1	8283	1103	39	1		1	KIF18B	17	43013578	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	76182	43013578	38181632	1877	15149											
FMNL1	752	genome.wustl.edu	37	chr17	43320530	43320530	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagttcaagaccaagtccCaaggccccagcctggacctc	8	16	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:43320530C>T	ENST00000331495.3	+	17	2392	c.2056C>T	c.(2056-2058)Caa>Taa	p.Q686*	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.Q686*|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Nonsense_Mutation_p.Q264*	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	686	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACCAAGTCCCAAGGCCCCAG	0.602																																					GBM(164;1247 1997 8702 11086 51972)												0								ENSG00000184922						97	103	101					17																	43320530		2203	4300	6503	FMNL1	SO:0001587	stop_gained	0			-	HGNC	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2056C>T	17.37:g.43320530C>T	ENSP00000329219:p.Gln686*	Somatic	0	59	0		0.52429534266604	63	4.55	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	63	27.27	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Nonsense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.Q686*	ENST00000331495.3	37	c.2056	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	c	41	8.532884	0.98852	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.8088	0.78538	0.0:1.0:0.0:0.0	.	.	.	.	X	686;686;341	.	ENSP00000327442:Q686X	Q	+	1	0	FMNL1	40676313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.607000	0.82883	2.368000	0.80403	0.450000	0.29827	CAA	-	pfam_FH2_Formin,smart_FH2_Formin		0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	protein_coding	OTTHUMT00000450198.1	C	NM_005892	-		43320530	1	no_errors	ENST00000328118	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	43320530	C	T	43320530	4	4	196	1	0	0	0	0	0	1	0	0	5953	595	21	2	2122	2	FMNL1	17	43320530	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	306952	43320530	37874680	1878	15150											
PLEKHM1	9842	genome.wustl.edu	37	chr17	43528023	43528023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgtggatgatcctggcCggaatcactgaggcatcgtc	13	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:43528023C>T	ENST00000430334.3	-	8	2737	c.2604G>A	c.(2602-2604)ccG>ccA	p.P868P	PLEKHM1_ENST00000421073.2_Silent_p.P779P|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	868					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGATCCTGGCCGGAATCACTG	0.582																																																	0								ENSG00000225190						29	27	28					17																	43528023		2202	4297	6499	PLEKHM1	SO:0001819	synonymous_variant	0			-	HGNC	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2604G>A	17.37:g.43528023C>T		Somatic	0	91	0		0.52429534266604	18	10	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	63	40.57	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP							pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P868	ENST00000430334.3	37	c.2604	CCDS32671.1	17																																																																																			-	NULL		0.582	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	protein_coding	OTTHUMT00000444659.1	C	NM_014798	-		43528023	-1	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	SNP	0.090	T	T	43528023	C	T	43528023	2	4	196	1	0	0	0	0	0	0	0	1	12082	639	23	1		1	PLEKHM1	17	43528023	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	207493	43528023	37667187	1879	15151											
TBKBP1	9755	genome.wustl.edu	37	chr17	45777023	45777023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctggcctccaaccagtcgGagcgagacatggcgtgggtg	15	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:45777023G>A	ENST00000361722.3	+	6	1681	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						CAACCAGTCGGAGCGAGACAT	0.577											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000198933						233	242	239					17																	45777023		2039	4205	6244	TBKBP1	SO:0001583	missense	0			-	HGNC	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.832G>A	17.37:g.45777023G>A	ENSP00000354777:p.Glu278Lys	Somatic	0	68	0	934	0.52429534266604	43	30.65	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	43	41.89		Missense_Mutation	SNP							NULL	p.E278K	ENST00000361722.3	37	c.832	CCDS45722.1	17	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506254	0.85282	.	.	ENSG00000198933	ENST00000361722	.	.	.	5.24	5.24	0.73138	.	0.200301	0.43110	D	0.000602	T	0.28433	0.0703	N	0.08118	0	0.45378	D	0.99836	P	0.39831	0.69	B	0.36666	0.23	T	0.19582	-1.0301	9	0.52906	T	0.07	-21.3863	13.4734	0.61295	0.0:0.1573:0.8427:0.0	.	278	A7MCY6	TBKB1_HUMAN	K	278	.	ENSP00000354777:E278K	E	+	1	0	TBKBP1	43132022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.330000	0.72925	2.717000	0.92951	0.462000	0.41574	GAG	-	NULL		0.577	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	protein_coding	OTTHUMT00000441363.1	G	NM_014726	-		45777023	1	no_errors	ENST00000361722	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45777023	G	A	45777023	3	1	196	1	0	0	0	0	1	0	0	0	15645	1175	41	2	854	2	TBKBP1	17	45777023	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2249000	45777023	35418187	1880	15152											
TBX21	30009	genome.wustl.edu	37	chr17	45819979	45819979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctctcttctctccaggcgGatgttcccattcctgtcatt	6	14	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:45819979G>A	ENST00000177694.1	+	2	706	c.495G>A	c.(493-495)cgG>cgA	p.R165R		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	165					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTCCAGGCGGATGTTCCCAT	0.602																																																	0								ENSG00000073861						65	54	58					17																	45819979		2203	4299	6502	TBX21	SO:0001819	synonymous_variant	0			-	HGNC	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.495G>A	17.37:g.45819979G>A		Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00		Silent	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R165	ENST00000177694.1	37	c.495	CCDS11514.1	17																																																																																			-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.602	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX21	protein_coding	OTTHUMT00000441365.1	G	NM_013351	-		45819979	1	no_errors	ENST00000177694	ensembl	human	known	74_37	silent	SNP	1.000	A	A	45819979	G	A	45819979	2	1	196	1	0	0	0	0	0	0	0	1	15664	1161	41	2		2	TBX21	17	45819979	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	42956	45819979	35375231	1881	15153											
TTLL6	284076	genome.wustl.edu	37	chr17	46865262	46865262	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctcatacttctccgaattCagactgggataaatcagtcg	7	10	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:46865262C>T	ENST00000393382.3	-	11	1641	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	TTLL6_ENST00000433608.2_Silent_p.L193L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTCCGAATTCAGACTGGGAT	0.488																																																	0								ENSG00000170703						172	185	180					17																	46865262		2203	4300	6503	TTLL6	SO:0001819	synonymous_variant	0			-	HGNC	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1500G>A	17.37:g.46865262C>T		Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	55	37.50		Silent	SNP							pfam_TTL/TTLL_fam	p.L500	ENST00000393382.3	37	c.1500	CCDS45724.1	17																																																																																			-	NULL		0.488	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	protein_coding	OTTHUMT00000346939.3	C	NM_173623	-		46865262	-1	no_errors	ENST00000393382	ensembl	human	known	74_37	silent	SNP	0.005	T	T	46865262	C	T	46865262	2	4	196	1	0	0	0	0	0	0	0	1	16738	813	29	2		2	TTLL6	17	46865262	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1045283	46865262	34329948	1882	15154											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47122427	47122427	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagaggcccaattcaaGgttttggtctttattgtttt	9	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47122427G>A	ENST00000290341.3	+	12	1729	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	IGF2BP1_ENST00000431824.2_Splice_Site_p.K326K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	465	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCAATTCAAGGTTTTGGTCT	0.453																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0								ENSG00000159217						150	136	140					17																	47122427		2203	4300	6503	IGF2BP1	SO:0001630	splice_region_variant	0			-	HGNC	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1395+1G>A	17.37:g.47122427G>A		Somatic	0	134	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	103	32.68	C9JT33	Silent	SNP							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K465	ENST00000290341.3	37	c.1395	CCDS11543.1	17																																																																																			-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.453	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	G	NM_006546	-	Silent	47122427	1	no_errors	ENST00000290341	ensembl	human	known	74_37	silent	SNP	1.000	A	A	47122427	G	A	47122427	5	1	196	1	0	0	0	0	0	0	1	0	7575	1014	35	2	1441	2	IGF2BP1	17	47122427	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	257165	47122427	34072783	1883	15155											
B4GALNT2	124872	genome.wustl.edu	37	chr17	47218739	47218739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaactcccaagtcctgccCcgggtgtccagaagctgaag	11	14	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47218739C>T	ENST00000300404.2	+	2	384	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P23S|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P49S	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	109					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AAGTCCTGCCCCGGGTGTCCA	0.507																																					GBM(124;244 1635 8663 18097 33175)												0								ENSG00000167080						93	94	94					17																	47218739		2203	4300	6503	B4GALNT2	SO:0001583	missense	0			-	HGNC	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.325C>T	17.37:g.47218739C>T	ENSP00000300404:p.Pro109Ser	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	47	30.88	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP							pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P109S	ENST00000300404.2	37	c.325	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489424	0.26686	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.23950	1.88;2.0;2.3	5.38	2.17	0.27698	.	2.724150	0.01294	N	0.010139	T	0.18593	0.0446	N	0.19112	0.55	0.09310	N	1	B;B	0.18968	0.032;0.003	B;B	0.19391	0.025;0.009	T	0.18935	-1.0321	10	0.41790	T	0.15	0.0683	4.163	0.10293	0.164:0.5906:0.1584:0.087	.	49;109	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	S	23;49;109	ENSP00000425510:P23S;ENSP00000377022:P49S;ENSP00000300404:P109S	ENSP00000300404:P109S	P	+	1	0	B4GALNT2	44573738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.567000	0.05916	0.298000	0.22638	0.563000	0.77884	CCG	-	pirsf_GM2_synthase		0.507	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	protein_coding	OTTHUMT00000364477.1	C	NM_153446	-		47218739	1	no_errors	ENST00000300404	ensembl	human	known	74_37	missense	SNP	0.000	T	T	47218739	C	T	47218739	3	4	196	1	0	0	0	0	1	0	0	0	1267	623	22	2	349	2	B4GALNT2	17	47218739	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	96312	47218739	33976471	1884	15156											
B4GALNT2	124872	genome.wustl.edu	37	chr17	47241525	47241525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctcatgatcatgctccGgagtattcgagagtattacc	9	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47241525G>A	ENST00000300404.2	+	8	1081	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R255Q|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R281Q	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	341					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATCATGCTCCGGAGTATTCGA	0.488																																					GBM(124;244 1635 8663 18097 33175)												0								ENSG00000167080						176	172	173					17																	47241525		2203	4300	6503	B4GALNT2	SO:0001583	missense	0			-	HGNC	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1022G>A	17.37:g.47241525G>A	ENSP00000300404:p.Arg341Gln	Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	77	35.29	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP							pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R341Q	ENST00000300404.2	37	c.1022	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056693	0.19907	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.61627	0.09;0.09;0.09	5.58	-11.0	0.00169	Glycosyl transferase, family 2 (1);	1.291370	0.05393	N	0.539325	T	0.29491	0.0735	N	0.05351	-0.065	0.09310	N	1	B;B	0.21309	0.038;0.054	B;B	0.16289	0.003;0.015	T	0.29366	-1.0014	10	0.11182	T	0.66	-1.7841	13.9469	0.64091	0.7548:0.0:0.1546:0.0906	.	281;341	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	Q	255;281;341	ENSP00000425510:R255Q;ENSP00000377022:R281Q;ENSP00000300404:R341Q	ENSP00000300404:R341Q	R	+	2	0	B4GALNT2	44596524	0.000000	0.05858	0.265000	0.24526	0.938000	0.57974	-1.674000	0.01949	-1.901000	0.01096	-1.100000	0.02121	CGG	-	pfam_Glyco_trans_2,pirsf_GM2_synthase		0.488	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	protein_coding	OTTHUMT00000364477.1	G	NM_153446	-		47241525	1	no_errors	ENST00000300404	ensembl	human	known	74_37	missense	SNP	0.000	A	A	47241525	G	A	47241525	3	1	196	1	0	0	0	0	1	0	0	0	1267	1116	39	1	1070	1	B4GALNT2	17	47241525	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	22786	47241525	33953685	1885	15157											
PHB	5245	genome.wustl.edu	37	chr17	47484200	47484200	+	Missense_Mutation	SNP	C	C	T													ccgcttctgtgaactccttcCcgaaggtcagatgtgtctaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47484200C>T	ENST00000300408.3	-	6	599	c.527G>A	c.(526-528)gGg>gAg	p.G176E	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	176					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAACTCCTTCCCGAAGGTCAG	0.562																																																	0								ENSG00000167085						69	65	66					17																	47484200		2203	4300	6503	PHB	SO:0001583	missense	0			-	HGNC		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.527G>A	17.37:g.47484200C>T	ENSP00000300408:p.Gly176Glu	Somatic	0	58	0		0.52429534266604	469	19	110	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	40	34.43	B4DY47|Q4VBQ0	Missense_Mutation	SNP							pfam_Band_7,smart_Band_7,prints_Prohibitin	p.G176E	ENST00000300408.3	37	c.527	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567332	0.86439	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	M	0.88377	2.95	0.80722	D	1	P	0.35894	0.526	P	0.45998	0.5	D	0.96508	0.9376	10	0.87932	D	0	.	17.9281	0.88989	0.0:1.0:0.0:0.0	.	176	P35232	PHB_HUMAN	E	176	ENSP00000300408:G176E;ENSP00000393320:G176E;ENSP00000426433:G176E;ENSP00000422182:G176E;ENSP00000407828:G176E	ENSP00000300408:G176E	G	-	2	0	PHB	44839199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.790000	0.85794	2.523000	0.85059	0.655000	0.94253	GGG	-	pfam_Band_7,smart_Band_7,prints_Prohibitin		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	protein_coding	OTTHUMT00000258826.1	C	NM_002634	-		47484200	-1	no_errors	ENST00000300408	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47484200	C	T	47484200	3	4	196	1	0	0	0	0	1	0	0	0	11816	623	22	2	299	2	PHB	17	47484200	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	242675	47484200	33711010	1886	15158	346	2									
PHB	5245	genome.wustl.edu	37	chr17	47484201	47484201	+	Missense_Mutation	SNP	C	C	T													cgcttctgtgaactccttccCgaaggtcagatgtgtctaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47484201C>T	ENST00000300408.3	-	6	598	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	176					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)	p.G176W(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			AACTCCTTCCCGAAGGTCAGA	0.562																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000167085						68	64	66					17																	47484201		2203	4300	6503	PHB	SO:0001583	missense	0			-	HGNC		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.526G>A	17.37:g.47484201C>T	ENSP00000300408:p.Gly176Arg	Somatic	0	57	0		0.52429534266604	458	19.37	110	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	B4DY47|Q4VBQ0	Missense_Mutation	SNP							pfam_Band_7,smart_Band_7,prints_Prohibitin	p.G176R	ENST00000300408.3	37	c.526	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584032	0.65992	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	M	0.67397	2.05	0.80722	D	1	B	0.27229	0.172	B	0.30316	0.114	D	0.92489	0.5999	10	0.62326	D	0.03	.	17.9281	0.88989	0.0:1.0:0.0:0.0	.	176	P35232	PHB_HUMAN	R	176	ENSP00000300408:G176R;ENSP00000393320:G176R;ENSP00000426433:G176R;ENSP00000422182:G176R;ENSP00000407828:G176R	ENSP00000300408:G176R	G	-	1	0	PHB	44839200	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.790000	0.85794	2.523000	0.85059	0.655000	0.94253	GGG	-	pfam_Band_7,smart_Band_7,prints_Prohibitin		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	protein_coding	OTTHUMT00000258826.1	C	NM_002634	-		47484201	-1	no_errors	ENST00000300408	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47484201	C	T	47484201	3	4	196	1	0	0	0	0	1	0	0	0	11816	652	23	1	300	1	PHB	17	47484201	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	47484201	33711009	1887	15159	346	2									
XYLT2	64132	genome.wustl.edu	37	chr17	48434521	48434521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccctcagcccaggggCcggcagagacgcttgagatg	15	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48434521C>T	ENST00000017003.2	+	9	1898	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P617S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	617					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCCCAGGGGCCGGCAGAGAC	0.647																																																	0								ENSG00000015532						38	40	39					17																	48434521		2203	4300	6503	XYLT2	SO:0001583	missense	0			-	HGNC	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1849C>T	17.37:g.48434521C>T	ENSP00000017003:p.Pro617Ser	Somatic	0	94	0		0.52429534266604	52	41.11	37	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	90	35.25	Q6UY41|Q86V00	Missense_Mutation	SNP							pfam_XylT,pfam_Glyco_trans_14	p.P617S	ENST00000017003.2	37	c.1849	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	5.405	0.259971	0.10239	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.38887	1.11;1.11	4.92	4.92	0.64577	.	0.557806	0.19335	N	0.116807	T	0.17109	0.0411	N	0.01048	-1.04	0.33714	D	0.616131	B	0.11235	0.004	B	0.17098	0.017	T	0.12066	-1.0562	10	0.10377	T	0.69	-18.1071	16.4828	0.84162	0.0:1.0:0.0:0.0	.	617	Q9H1B5	XYLT2_HUMAN	S	617	ENSP00000017003:P617S;ENSP00000426501:P617S	ENSP00000017003:P617S	P	+	1	0	XYLT2	45789520	0.227000	0.23707	1.000000	0.80357	0.972000	0.66771	0.732000	0.26072	2.560000	0.86352	0.655000	0.94253	CCG	-	pfam_XylT		0.647	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	protein_coding	OTTHUMT00000367046.1	C	NM_022167	-		48434521	1	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	SNP	0.941	T	T	48434521	C	T	48434521	3	4	196	1	0	0	0	0	1	0	0	0	17471	739	26	2	1883	2	XYLT2	17	48434521	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	950320	48434521	32760689	1888	15160											
RSAD1	55316	genome.wustl.edu	37	chr17	48560723	48560723	+	Silent	SNP	C	C	T													gcccatggacgatttatgccCcagggggctggaggccacac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48560723C>T	ENST00000258955.2	+	6	1012	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	309					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GATTTATGCCCCAGGGGGCTG	0.537																																																	0								ENSG00000136444						36	38	37					17																	48560723		2203	4300	6503	RSAD1	SO:0001819	synonymous_variant	0			-	HGNC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.927C>T	17.37:g.48560723C>T		Somatic	0	47	0		0.52429534266604	48	7.69	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	54	41.94	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP							NULL	p.P175L	ENST00000258955.2	37	c.524	CCDS11569.1	17																																																																																			-	NULL		0.537	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	C	NM_018346	-		48560723	1	no_errors	ENST00000515221	ensembl	human	known	74_37	missense	SNP	0.992	T	T	48560723	C	T	48560723	2	4	196	1	0	0	0	0	0	0	0	1	13702	610	22	2		2	RSAD1	17	48560723	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	126202	48560723	32634487	1889	15161	347	2									
RSAD1	55316	genome.wustl.edu	37	chr17	48560724	48560724	+	Nonsense_Mutation	SNP	C	C	T													cccatggacgatttatgcccCagggggctggaggccacacc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48560724C>T	ENST00000258955.2	+	6	1013	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	310					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATTTATGCCCCAGGGGGCTGG	0.542																																																	0								ENSG00000136444						36	38	37					17																	48560724		2203	4300	6503	RSAD1	SO:0001587	stop_gained	0			-	HGNC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.928C>T	17.37:g.48560724C>T	ENSP00000258955:p.Gln310*	Somatic	0	49	0		0.52429534266604	51	7.27	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	55	42.11	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Nonsense_Mutation	SNP							pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.Q310*	ENST00000258955.2	37	c.928	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718042	0.30503	.	.	ENSG00000136444	ENST00000258955	.	.	.	5.15	5.15	0.70609	.	0.769159	0.12234	N	0.487150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.8008	13.0224	0.58796	0.0:0.9206:0.0:0.0794	.	.	.	.	X	310	.	ENSP00000258955:Q310X	Q	+	1	0	RSAD1	45915723	0.981000	0.34729	0.992000	0.48379	0.014000	0.08584	2.495000	0.45337	2.572000	0.86782	0.563000	0.77884	CAG	-	pfam_HemN_C_dom,tigrfam_Coprogen_oxidase_HemN-rel		0.542	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	C	NM_018346	-		48560724	1	no_errors	ENST00000258955	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48560724	C	T	48560724	4	4	196	1	0	0	0	0	0	1	0	0	13702	595	21	2	950	2	RSAD1	17	48560724	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	48560724	32634486	1890	15162	347	2									
RSAD1	55316	genome.wustl.edu	37	chr17	48562159	48562159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactctctcttgctgacCctcctgcctcagctccaaga	7	17	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48562159C>T	ENST00000258955.2	+	9	1351	c.1266C>T	c.(1264-1266)acC>acT	p.T422T		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	422					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCTTGCTGACCCTCCTGCCTC	0.557																																																	0								ENSG00000136444						73	68	70					17																	48562159		2203	4300	6503	RSAD1	SO:0001819	synonymous_variant	0			-	HGNC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1266C>T	17.37:g.48562159C>T		Somatic	0	70	0		0.52429534266604	28	64.1	50	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	61	32.97	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP							pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.T422	ENST00000258955.2	37	c.1266	CCDS11569.1	17																																																																																			-	NULL		0.557	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	C	NM_018346	-		48562159	1	no_errors	ENST00000258955	ensembl	human	known	74_37	silent	SNP	0.951	T	T	48562159	C	T	48562159	2	4	196	1	0	0	0	0	0	0	0	1	13702	610	22	2		2	RSAD1	17	48562159	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1435	48562159	32633051	1891	15163											
ABCC3	8714	genome.wustl.edu	37	chr17	48753302	48753302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctctgtaccacgctggCcatctgtctcctgtatgtgg	13	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48753302C>T	ENST00000285238.8	+	22	2998	c.2918C>T	c.(2917-2919)gCc>gTc	p.A973V	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	973	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	ACCACGCTGGCCATCTGTCTC	0.572																																																	0								ENSG00000108846						93	83	87					17																	48753302		2203	4300	6503	ABCC3	SO:0001583	missense	0			-	HGNC	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.2918C>T	17.37:g.48753302C>T	ENSP00000285238:p.Ala973Val	Somatic	0	38	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	39.34	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.A973V	ENST00000285238.8	37	c.2918	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	5.121	0.207978	0.09704	.	.	ENSG00000108846	ENST00000285238	D	0.89875	-2.58	5.36	-3.79	0.04320	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.067360	0.07281	N	0.870786	T	0.77089	0.4079	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.59144	-0.7509	10	0.15499	T	0.54	-0.0899	14.6678	0.68921	0.0:0.2184:0.0:0.7816	.	973	O15438	MRP3_HUMAN	V	973	ENSP00000285238:A973V	ENSP00000285238:A973V	A	+	2	0	ABCC3	46108301	0.034000	0.19679	0.000000	0.03702	0.023000	0.10783	0.584000	0.23864	-0.860000	0.04099	-0.136000	0.14681	GCC	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.572	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	C	NM_020038	-		48753302	1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	SNP	0.000	T	T	48753302	C	T	48753302	3	4	196	1	0	0	0	0	1	0	0	0	54	739	26	2	3088	2	ABCC3	17	48753302	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	191143	48753302	32441908	1892	15164											
SPAG9	9043	genome.wustl.edu	37	chr17	49075915	49075915	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgtgggtgcattgtacttCagattaacaggtggttcagg	14	6	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:49075915C>T	ENST00000262013.7	-	15	1936	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	SPAG9_ENST00000510283.1_Silent_p.L419L|SPAG9_ENST00000505279.1_Silent_p.L566L|SPAG9_ENST00000357122.4_Silent_p.L562L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	576					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATTGTACTTCAGATTAACAG	0.453																																																	0								ENSG00000008294						183	153	163					17																	49075915		2203	4300	6503	SPAG9	SO:0001819	synonymous_variant	0			-	HGNC	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1728G>A	17.37:g.49075915C>T		Somatic	0	99	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	105	31.37	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP							pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.L576	ENST00000262013.7	37	c.1728	CCDS45740.1	17																																																																																			-	NULL		0.453	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	protein_coding	OTTHUMT00000368543.2	C	NM_003971	-		49075915	-1	no_errors	ENST00000262013	ensembl	human	known	74_37	silent	SNP	0.992	T	T	49075915	C	T	49075915	2	4	196	1	0	0	0	0	0	0	0	1	14993	813	29	2		2	SPAG9	17	49075915	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	322613	49075915	32119295	1893	15165											
EPX	8288	genome.wustl.edu	37	chr17	56276507	56276507	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacgcctgaatccccggtgGaatggagacaaactgtacaa	11	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:56276507G>A	ENST00000225371.5	+	8	1337	c.1227G>A	c.(1225-1227)tgG>tgA	p.W409*		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	409					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ATCCCCGGTGGAATGGAGACA	0.582																																																	0								ENSG00000121053						73	62	66					17																	56276507		2203	4300	6503	EPX	SO:0001587	stop_gained	0			-	HGNC	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1227G>A	17.37:g.56276507G>A	ENSP00000225371:p.Trp409*	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	55	25.68	Q4TVP3	Nonsense_Mutation	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.W409*	ENST00000225371.5	37	c.1227	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.092364	0.98059	.	.	ENSG00000121053	ENST00000225371	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9639	15.3248	0.74150	0.0:0.0:1.0:0.0	.	.	.	.	X	409	.	ENSP00000225371:W409X	W	+	3	0	EPX	53631506	1.000000	0.71417	0.970000	0.41538	0.963000	0.63663	9.458000	0.97634	2.696000	0.92011	0.655000	0.94253	TGG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.582	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	protein_coding	OTTHUMT00000443367.1	G	NM_000502	-		56276507	1	no_errors	ENST00000225371	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	56276507	G	A	56276507	4	1	196	1	0	0	0	0	0	1	0	0	5202	1183	41	2	1257	2	EPX	17	56276507	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7200592	56276507	24918703	1894	15166											
BZRAP1	9256	genome.wustl.edu	37	chr17	56386603	56386603	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcccctgacttctcctcctCctcgtcctcctcttcctctt	3	21	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:56386603C>A	ENST00000343736.4	-	22	4193	c.4030G>T	c.(4030-4032)Gag>Tag	p.E1344*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.E1344*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E1284*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1344	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ttctcctcctcctcgtcctcc	0.612																																																	0								ENSG00000005379						70	72	71					17																	56386603		2203	4300	6503	BZRAP1	SO:0001587	stop_gained	0			-	HGNC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4030G>T	17.37:g.56386603C>A	ENSP00000345824:p.Glu1344*	Somatic	0	58	0		0.52429534266604	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	53	32.91	O75111|Q8N5W3	Nonsense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1344*	ENST00000343736.4	37	c.4030	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	c	39	7.654613	0.98415	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	4.9	3.92	0.45320	.	0.558356	0.19240	N	0.119186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.6379	0.56692	0.0:0.9183:0.0:0.0817	.	.	.	.	X	1344;1344;1284	.	ENSP00000268893:E1284X	E	-	1	0	BZRAP1	53741602	0.015000	0.18098	0.017000	0.16124	0.125000	0.20455	1.449000	0.35123	1.046000	0.40249	0.461000	0.40582	GAG	-	NULL		0.612	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	protein_coding	OTTHUMT00000443980.1	C	NM_004758	-		56386603	-1	no_errors	ENST00000355701	ensembl	human	known	74_37	nonsense	SNP	0.065	A	A	56386603	C	A	56386603	4	1	196	1	0	0	0	0	0	1	0	0	1579	864	30	3	1583	3	BZRAP1	17	56386603	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	110096	56386603	24808607	1895	15167											
CLTC	1213	genome.wustl.edu	37	chr17	57758360	57758360	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgactgcagaccttcctaatGaactcattgaactgctggag	9	10	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:57758360G>T	ENST00000269122.3	+	19	3281	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	CLTC_ENST00000393043.1_Nonsense_Mutation_p.E1003*|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1003	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCTTCCTAATGAACTCATTGA	0.413			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0								ENSG00000141367						145	140	142					17																	57758360		2203	4300	6503	CLTC	SO:0001587	stop_gained	0			-	HGNC	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3007G>T	17.37:g.57758360G>T	ENSP00000269122:p.Glu1003*	Somatic	0	44	0		0.52429534266604	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP							pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E1003*	ENST00000269122.3	37	c.3007	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	43	10.191121	0.99355	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.09	5.09	0.68999	.	0.097989	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4981	0.90872	0.0:0.0:1.0:0.0	.	.	.	.	X	1003	.	ENSP00000269122:E1003X	E	+	1	0	CLTC	55113142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.374000	0.81015	0.650000	0.86243	GAA	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	protein_coding	OTTHUMT00000258859.1	G	NM_004859	-		57758360	1	no_errors	ENST00000269122	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	57758360	G	T	57758360	4	4	196	1	0	0	0	0	0	1	0	0	3568	1291	45	3	3081	3	CLTC	17	57758360	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1371757	57758360	23436850	1896	15168											
MRC2	9902	genome.wustl.edu	37	chr17	60743898	60743898	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccagtccacgctgtcgtgGagggaggcctgggccagctg	16	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:60743898G>A	ENST00000303375.5	+	4	1179	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	259	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGCTGTCGTGGAGGGAGGCCT	0.617																																																	0								ENSG00000011028						50	49	49					17																	60743898		2203	4300	6503	MRC2	SO:0001587	stop_gained	0			-	HGNC	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.777G>A	17.37:g.60743898G>A	ENSP00000307513:p.Trp259*	Somatic	0	22	0		0.52429534266604	43	10.42	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Nonsense_Mutation	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.W259*	ENST00000303375.5	37	c.777	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.038110	0.98621	.	.	ENSG00000011028	ENST00000303375	.	.	.	3.97	3.97	0.46021	.	0.137882	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9296	16.2383	0.82393	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000307513:W259X	W	+	3	0	MRC2	58097630	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	9.657000	0.98554	2.048000	0.60808	0.462000	0.41574	TGG	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.617	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	protein_coding	OTTHUMT00000445152.1	G		-		60743898	1	no_errors	ENST00000303375	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	60743898	G	A	60743898	4	1	196	1	0	0	0	0	0	1	0	0	9760	1183	41	2	791	2	MRC2	17	60743898	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2985538	60743898	20451312	1897	15169											
ACE	1636	genome.wustl.edu	37	chr17	61558520	61558520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcccagacaagcccaacCtcgatgtcaccagtactatg	6	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:61558520C>T	ENST00000290866.4	+	6	940	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F	ACE_ENST00000538928.1_Missense_Mutation_p.L306F|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L306F	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	306	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAAGCCCAACCTCGATGTCAC	0.577																																																	0								ENSG00000159640						116	100	106					17																	61558520		2203	4300	6503	ACE	SO:0001583	missense	0			-	HGNC	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.916C>T	17.37:g.61558520C>T	ENSP00000290866:p.Leu306Phe	Somatic	0	56	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.29	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP							pfam_Peptidase_M2,prints_Peptidase_M2	p.L306F	ENST00000290866.4	37	c.916	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105000	0.56291	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.41758	0.99;0.99;0.99	4.21	2.1	0.27182	.	0.252952	0.32416	N	0.006132	T	0.46210	0.1381	M	0.73753	2.245	0.80722	D	1	D;D;P	0.65815	0.995;0.99;0.786	P;P;B	0.52514	0.701;0.602;0.315	T	0.45571	-0.9252	10	0.44086	T	0.13	-24.7471	3.9191	0.09236	0.2681:0.5103:0.1358:0.0858	.	306;306;306	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	F	306	ENSP00000439591:L306F;ENSP00000290866:L306F;ENSP00000397593:L306F	ENSP00000290866:L306F	L	+	1	0	ACE	58912252	0.001000	0.12720	0.975000	0.42487	0.854000	0.48673	-0.256000	0.08757	2.180000	0.69256	0.561000	0.74099	CTC	-	pfam_Peptidase_M2		0.577	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	protein_coding	OTTHUMT00000337675.2	C		-		61558520	1	no_errors	ENST00000290866	ensembl	human	known	74_37	missense	SNP	0.550	T	T	61558520	C	T	61558520	3	4	196	1	0	0	0	0	1	0	0	0	136	681	24	2	938	2	ACE	17	61558520	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	814622	61558520	19636690	1898	15170											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892267	62892267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaagattcgacctccctaGaagactcagaaggctgaact	10	10	1	6			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:62892267G>A	ENST00000584306.1	-	3	1639	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S370F|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000577938.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	370						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GACCTCCCTAGAAGACTCAGA	0.537																																																	0								ENSG00000176809						26	32	30					17																	62892267		1985	4103	6088	LRRC37A3	SO:0001583	missense	0			-	HGNC	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1109C>T	17.37:g.62892267G>A	ENSP00000464535:p.Ser370Phe	Somatic	0	227	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	234	14.60	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S370F	ENST00000584306.1	37	c.1109	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	11.54	1.670625	0.29693	.	.	ENSG00000176809	ENST00000319651	T	0.61742	0.08	2.69	0.354	0.16063	.	.	.	.	.	T	0.62612	0.2442	L	0.57536	1.79	0.09310	N	1	D	0.64830	0.994	P	0.59221	0.854	T	0.51810	-0.8658	9	0.66056	D	0.02	.	5.0561	0.14533	0.0:0.2327:0.5289:0.2383	.	370	O60309	L37A3_HUMAN	F	370	ENSP00000325713:S370F	ENSP00000325713:S370F	S	-	2	0	LRRC37A3	60322729	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.016000	0.13377	-0.000000	0.14550	0.281000	0.19383	TCT	-	NULL		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	protein_coding	OTTHUMT00000445377.1	G	NM_199340	-		62892267	-1	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	SNP	0.000	A	A	62892267	G	A	62892267	3	1	196	1	0	0	0	0	1	0	0	0	8995	942	33	2	3843	2	LRRC37A3	17	62892267	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1333747	62892267	18302943	1899	15171											
CACNG5	27091	genome.wustl.edu	37	chr17	64881281	64881281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacatctccagcgaggcctCcctgcagatgaacagcaact	9	15	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:64881281C>T	ENST00000533854.1	+	6	989	c.752C>T	c.(751-753)tCc>tTc	p.S251F	CACNG5_ENST00000307139.3_Missense_Mutation_p.S251F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	251				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGCGAGGCCTCCCTGCAGATG	0.642																																																	0								ENSG00000075429						62	53	56					17																	64881281		2203	4300	6503	CACNG5	SO:0001583	missense	0			-	HGNC	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.752C>T	17.37:g.64881281C>T	ENSP00000436836:p.Ser251Phe	Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.S251F	ENST00000533854.1	37	c.752	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275873	0.80580	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.53857	0.6;0.6	3.42	3.42	0.39159	.	.	.	.	.	T	0.39517	0.1081	L	0.29908	0.895	0.80722	D	1	P	0.48407	0.91	B	0.37387	0.248	T	0.52939	-0.8508	9	0.72032	D	0.01	.	15.1473	0.72667	0.0:1.0:0.0:0.0	.	251	Q9UF02	CCG5_HUMAN	F	251	ENSP00000436836:S251F;ENSP00000303092:S251F	ENSP00000303092:S251F	S	+	2	0	CACNG5	62311743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.038000	0.76537	2.236000	0.73375	0.603000	0.83216	TCC	-	NULL		0.642	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	protein_coding	OTTHUMT00000389882.1	C	NM_014404, NM_145811	-		64881281	1	no_errors	ENST00000307139	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64881281	C	T	64881281	3	4	196	1	0	0	0	0	1	0	0	0	2562	855	30	2	1087	2	CACNG5	17	64881281	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1989014	64881281	16313929	1900	15172											
BPTF	2186	genome.wustl.edu	37	chr17	65862671	65862671	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taattgactgtctagacaaaGattattgggaagcagaactc	9	6	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:65862671G>A	ENST00000321892.4	+	3	1589	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	BPTF_ENST00000306378.6_Missense_Mutation_p.D510N|BPTF_ENST00000424123.3_Missense_Mutation_p.D371N|BPTF_ENST00000335221.5_Missense_Mutation_p.D510N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	510					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)			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)			TCTAGACAAAGATTATTGGGA	0.373																																																	0								ENSG00000171634						84	94	90					17																	65862671		2203	4300	6503	BPTF	SO:0001583	missense	0			-	HGNC	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.1528G>A	17.37:g.65862671G>A	ENSP00000315454:p.Asp510Asn	Somatic	0	77	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP							pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D510N	ENST00000321892.4	37	c.1528		17	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173786	0.38413	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.61392	0.13;0.11;0.11	5.73	5.73	0.89815	.	.	.	.	.	T	0.42585	0.1209	N	0.25647	0.755	0.24776	N	0.992841	B;P;P	0.43352	0.039;0.774;0.804	B;B;B	0.41571	0.014;0.299;0.36	T	0.34329	-0.9833	9	0.02654	T	1	.	13.1385	0.59423	0.0728:0.0:0.9271:0.0	.	510;510;510	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	N	415;510;510;510;371	ENSP00000307208:D510N;ENSP00000334351:D510N;ENSP00000315454:D510N	ENSP00000307208:D510N	D	+	1	0	BPTF	63293133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	2.700000	0.92200	0.655000	0.94253	GAT	-	NULL		0.373	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		G	NM_182641, NM_004459	-		65862671	1	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65862671	G	A	65862671	3	1	196	1	0	0	0	0	1	0	0	0	1497	942	33	2	1538	2	BPTF	17	65862671	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	981390	65862671	15332539	1901	15173											
BPTF	2186	genome.wustl.edu	37	chr17	65940483	65940483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactgtttccacgacagCagcaggtagagctgtgggtt	12	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:65940483C>T	ENST00000321892.4	+	22	7134	c.7073C>T	c.(7072-7074)gCa>gTa	p.A2358V	BPTF_ENST00000306378.6_Missense_Mutation_p.A2232V|BPTF_ENST00000424123.3_Missense_Mutation_p.A2219V|BPTF_ENST00000335221.5_Missense_Mutation_p.A2358V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2358	Thr-rich.				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)			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)			TCCACGACAGCAGCAGGTAGA	0.512																																																	0								ENSG00000171634						67	59	62					17																	65940483		2203	4300	6503	BPTF	SO:0001583	missense	0			-	HGNC	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.7073C>T	17.37:g.65940483C>T	ENSP00000315454:p.Ala2358Val	Somatic	0	33	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP							pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A2358V	ENST00000321892.4	37	c.7073		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.51|13.51	2.257325|2.257325	0.39896|0.39896	.|.	.|.	ENSG00000171634|ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892|ENST00000424123	T;T;T|.	0.62498|.	0.02;0.04;0.06|.	5.4|5.4	4.43|4.43	0.53597|0.53597	.|.	.|.	.|.	.|.	.|.	T|.	0.37544|.	0.1007|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999992|0.999992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.09377|.	0.001;0.004;0.004|.	T|.	0.21518|.	-1.0243|.	9|.	0.56958|0.21014	D|T	0.05|0.42	-2.4017|-2.4017	14.7153|14.7153	0.69262|0.69262	0.0:0.9299:0.0:0.0701|0.0:0.9299:0.0:0.0701	.|.	36;2232;2358|.	B4DJV8;Q12830-2;Q12830-4|.	.;.;.|.	V|X	2232;2358;2358|30	ENSP00000307208:A2232V;ENSP00000334351:A2358V;ENSP00000315454:A2358V|.	ENSP00000307208:A2232V|ENSP00000388405:Q30X	A|Q	+|+	2|1	0|0	BPTF|BPTF	63370945|63370945	0.997000|0.997000	0.39634|0.39634	0.970000|0.970000	0.41538|0.41538	0.833000|0.833000	0.47200|0.47200	3.400000|3.400000	0.52594|0.52594	1.406000|1.406000	0.46857|0.46857	0.655000|0.655000	0.94253|0.94253	GCA|CAG	-	NULL		0.512	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		C	NM_182641, NM_004459	-		65940483	1	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	SNP	0.974	T	T	65940483	C	T	65940483	3	4	196	1	0	0	0	0	1	0	0	0	1497	710	25	2	7159	2	BPTF	17	65940483	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	77812	65940483	15254727	1902	15174											
BPTF	2186	genome.wustl.edu	37	chr17	65962707	65962707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccataagatggcctggcCtttccttgaaccagtagacc	10	13	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:65962707C>T	ENST00000321892.4	+	28	8913	c.8852C>T	c.(8851-8853)cCt>cTt	p.P2951L	BPTF_ENST00000306378.6_Missense_Mutation_p.P2825L|BPTF_ENST00000424123.3_Missense_Mutation_p.P2669L|BPTF_ENST00000335221.5_Missense_Mutation_p.P2808L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2951	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			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)			ATGGCCTGGCCTTTCCTTGAA	0.363																																																	0								ENSG00000171634						112	105	107					17																	65962707		2203	4300	6503	BPTF	SO:0001583	missense	0			-	HGNC	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.8852C>T	17.37:g.65962707C>T	ENSP00000315454:p.Pro2951Leu	Somatic	0	46	0		0.52429534266604	20	48.72	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	36.21	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP							pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P2951L	ENST00000321892.4	37	c.8852		17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967711	0.74131	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.21191	2.02;2.02;2.02	5.73	5.73	0.89815	.	.	.	.	.	T	0.51449	0.1675	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.988;0.982;1.0;1.0	T	0.52003	-0.8633	9	0.72032	D	0.01	-8.5706	19.903	0.96995	0.0:1.0:0.0:0.0	.	156;629;2825;2808	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	L	2825;2808;2951;156	ENSP00000307208:P2825L;ENSP00000334351:P2808L;ENSP00000315454:P2951L	ENSP00000307208:P2825L	P	+	2	0	BPTF	63393169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	2.716000	0.92895	0.555000	0.69702	CCT	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.363	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		C	NM_182641, NM_004459	-		65962707	1	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65962707	C	T	65962707	3	4	196	1	0	0	0	0	1	0	0	0	1497	681	24	2	8962	2	BPTF	17	65962707	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	22224	65962707	15232503	1903	15175											
MAP2K6	5608	genome.wustl.edu	37	chr17	67519705	67519705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggtcaagtgaagatgTgcgattttggaatcagtggc	13	7	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:67519705T>A	ENST00000590474.1	+	8	873	c.586T>A	c.(586-588)Tgc>Agc	p.C196S	MAP2K6_ENST00000589647.1_Missense_Mutation_p.C140S	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AGTGAAGATGTGCGATTTTGG	0.453																																																	0								ENSG00000108984						337	298	311					17																	67519705		2203	4300	6503	MAP2K6	SO:0001583	missense	0			-	HGNC	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.586T>A	17.37:g.67519705T>A	ENSP00000468348:p.Cys196Ser	Somatic	0	55	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	47	25.40		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C196S	ENST00000590474.1	37	c.586	CCDS11686.1	17	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973290	0.92919	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	5.73	0.89815	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	0.65207	0.2669	L	0.28504	0.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63189	-0.6693	8	.	.	.	-11.3369	15.1425	0.72620	0.0:0.0:0.0:1.0	.	196	P52564	MP2K6_HUMAN	S	196	.	.	C	+	1	0	MAP2K6	65031300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.824000	0.86668	2.302000	0.77476	0.533000	0.62120	TGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.453	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K6	protein_coding	OTTHUMT00000450689.1	T	NM_002758	-		67519705	1	no_errors	ENST00000590474	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67519705	T	A	67519705	3	1	196	1	0	0	0	0	1	0	0	0	9243	1696	59	5	616	5	MAP2K6	17	67519705	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1556998	67519705	13675505	1904	15176											
GPRC5C	55890	genome.wustl.edu	37	chr17	72436505	72436505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcgcaggctgggCcgtggcctccccctgtgcca	13	17	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:72436505C>T	ENST00000392627.1	+	2	1851	c.725C>T	c.(724-726)gCc>gTc	p.A242V	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A209V|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	197					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCAGGCTGGGCCGTGGCCTCC	0.642																																																	0								ENSG00000170412						46	44	45					17																	72436505		2201	4299	6500	GPRC5C	SO:0001583	missense	0			-	HGNC	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.725C>T	17.37:g.72436505C>T	ENSP00000376403:p.Ala242Val	Somatic	0	15	0		0.52429534266604	14	22.22	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A242V	ENST00000392627.1	37	c.725	CCDS11699.1	17	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316517	0.05422	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.87966	-2.32	5.79	-3.03	0.05429	GPCR, family 3, C-terminal (2);	0.902461	0.09773	N	0.757766	T	0.68970	0.3059	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.54470	-0.8289	10	0.23891	T	0.37	-5.0343	8.538	0.33375	0.0:0.3066:0.1338:0.5596	.	197;197;209	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	V	197;242;209;197	ENSP00000376405:A209V	ENSP00000340595:A242V	A	+	2	0	GPRC5C	69948100	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.671000	0.05250	-0.267000	0.09325	0.561000	0.74099	GCC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.642	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	protein_coding	OTTHUMT00000145094.2	C		-		72436505	1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	SNP	0.003	T	T	72436505	C	T	72436505	3	4	196	1	0	0	0	0	1	0	0	0	6728	739	26	2	739	2	GPRC5C	17	72436505	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4916800	72436505	8758705	1905	15177											
USH1G	124590	genome.wustl.edu	37	chr17	72915934	72915934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccccatccagacccccatCctcgcggcccagtccgtgca	7	22	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:72915934C>T	ENST00000319642.1	-	2	1179	c.997G>A	c.(997-999)Gat>Aat	p.D333N		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	333					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGACCCCCATCCTCGCGGCCC	0.682																																																	0								ENSG00000182040						48	59	55					17																	72915934		2203	4298	6501	USH1G	SO:0001583	missense	0			-	HGNC	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.997G>A	17.37:g.72915934C>T	ENSP00000320076:p.Asp333Asn	Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	74	13.95	Q8N251	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D333N	ENST00000319642.1	37	c.997	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009252	0.35415	.	.	ENSG00000182040	ENST00000319642	T	0.70516	-0.49	4.34	4.34	0.51931	.	0.292019	0.36591	N	0.002503	T	0.54791	0.1880	N	0.19112	0.55	0.43489	D	0.995721	B	0.02656	0.0	B	0.04013	0.001	T	0.51164	-0.8740	10	0.11485	T	0.65	-27.2304	17.0851	0.86609	0.0:1.0:0.0:0.0	.	333	Q495M9	USH1G_HUMAN	N	333	ENSP00000320076:D333N	ENSP00000320076:D333N	D	-	1	0	USH1G	70427529	0.999000	0.42202	0.952000	0.39060	0.898000	0.52572	4.630000	0.61297	2.275000	0.75901	0.555000	0.69702	GAT	-	NULL		0.682	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	protein_coding	OTTHUMT00000443676.1	C	NM_173477	-		72915934	-1	no_errors	ENST00000319642	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72915934	C	T	72915934	3	4	196	1	0	0	0	0	1	0	0	0	17042	855	30	2	396	2	USH1G	17	72915934	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	479429	72915934	8279276	1906	15178											
USH1G	124590	genome.wustl.edu	37	chr17	72915947	72915947	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcctcgcggcccagTccgtgcagcccactgctcaa	8	21	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:72915947T>A	ENST00000319642.1	-	2	1166	c.984A>T	c.(982-984)ggA>ggT	p.G328G		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	328					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCGGCCCAGTCCGTGCAGCC	0.677																																																	0								ENSG00000182040						52	63	60					17																	72915947		2203	4298	6501	USH1G	SO:0001819	synonymous_variant	0			-	HGNC	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.984A>T	17.37:g.72915947T>A		Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	71	28.28	Q8N251	Silent	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G328	ENST00000319642.1	37	c.984	CCDS32725.1	17																																																																																			-	NULL		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	protein_coding	OTTHUMT00000443676.1	T	NM_173477	-		72915947	-1	no_errors	ENST00000319642	ensembl	human	known	74_37	silent	SNP	0.989	A	A	72915947	T	A	72915947	2	1	196	1	0	0	0	0	0	0	0	1	17042	1654	58	5		5	USH1G	17	72915947	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	13	72915947	8279263	1907	15179											
NUP85	79902	genome.wustl.edu	37	chr17	73221887	73221887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctcttgtactccaatcCcacagtaaaacccattgatc	5	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73221887C>T	ENST00000245544.4	+	10	1021	c.950C>T	c.(949-951)cCc>cTc	p.P317L	NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000540768.1_5'Flank|NUP85_ENST00000447371.2_Missense_Mutation_p.P149L|NUP85_ENST00000579324.1_Missense_Mutation_p.P205L|NUP85_ENST00000579298.1_Missense_Mutation_p.P272L|NUP85_ENST00000541827.1_Missense_Mutation_p.P271L	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	317					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TACTCCAATCCCACAGTAAAA	0.532																																																	0								ENSG00000125450						127	122	124					17																	73221887		2203	4300	6503	NUP85	SO:0001583	missense	0			-	HGNC	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.950C>T	17.37:g.73221887C>T	ENSP00000245544:p.Pro317Leu	Somatic	0	62	0		0.52429534266604	38	41.79	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.92	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP							pfam_Nucleoporin_Nup85	p.P317L	ENST00000245544.4	37	c.950	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832528	0.50845	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	5.79	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84270	0.0488	9	0.72032	D	0.01	-29.0818	14.6125	0.68526	0.0:0.9303:0.0:0.0697	.	271;317	B4DMQ3;Q9BW27	.;NUP85_HUMAN	L	317;271;271;149	.	ENSP00000245544:P317L	P	+	2	0	NUP85	70733482	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.277000	0.78572	1.466000	0.48025	0.650000	0.86243	CCC	-	pfam_Nucleoporin_Nup85		0.532	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	protein_coding	OTTHUMT00000446619.1	C	NM_024844	-		73221887	1	no_errors	ENST00000245544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73221887	C	T	73221887	3	4	196	1	0	0	0	0	1	0	0	0	10772	623	22	2	988	2	NUP85	17	73221887	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	305940	73221887	7973323	1908	15180											
NUP85	79902	genome.wustl.edu	37	chr17	73227683	73227683	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagtttcggttccaacatGagagagttcctcctgctgga	10	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73227683G>A	ENST00000245544.4	+	13	1265	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	NUP85_ENST00000540768.1_Start_Codon_SNP_p.M1I|NUP85_ENST00000447371.2_Missense_Mutation_p.M230I|NUP85_ENST00000579324.1_Missense_Mutation_p.M286I|NUP85_ENST00000579298.1_Missense_Mutation_p.M353I|NUP85_ENST00000541827.1_Missense_Mutation_p.M352I	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	398					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTTCCAACATGAGAGAGTTCC	0.552																																																	0								ENSG00000125450						131	137	135					17																	73227683		2203	4300	6503	NUP85	SO:0001583	missense	0			-	HGNC	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1194G>A	17.37:g.73227683G>A	ENSP00000245544:p.Met398Ile	Somatic	0	33	0		0.52429534266604	67	37.61	41	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP							pfam_Nucleoporin_Nup85	p.M398I	ENST00000245544.4	37	c.1194	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770190	0.69992	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.38	5.38	0.77491	.	0.039136	0.85682	D	0.000000	T	0.56485	0.1988	L	0.38175	1.15	0.58432	D	0.999999	B;B	0.27192	0.171;0.171	B;B	0.31337	0.128;0.118	T	0.50206	-0.8855	9	0.21540	T	0.41	-33.4228	19.4864	0.95030	0.0:0.0:1.0:0.0	.	352;398	B4DMQ3;Q9BW27	.;NUP85_HUMAN	I	398;352;230;1	.	ENSP00000245544:M398I	M	+	3	0	NUP85	70739278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.754000	0.68743	2.687000	0.91594	0.561000	0.74099	ATG	-	pfam_Nucleoporin_Nup85		0.552	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	protein_coding	OTTHUMT00000446619.1	G	NM_024844	-		73227683	1	no_errors	ENST00000245544	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73227683	G	A	73227683	3	1	196	1	0	0	0	0	1	0	0	0	10772	1290	45	2	1244	2	NUP85	17	73227683	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5796	73227683	7967527	1909	15181											
GGA3	23163	genome.wustl.edu	37	chr17	73234804	73234804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggggctaaatggagagaGttctgtcccagaaggtggct	16	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73234804G>A	ENST00000245541.6	-	16	2206	c.1990C>T	c.(1990-1992)Ctc>Ttc	p.L664F	GGA3_ENST00000351904.7_Missense_Mutation_p.L631F|GGA3_ENST00000582717.1_Missense_Mutation_p.L592F|GGA3_ENST00000538886.1_Missense_Mutation_p.L542F|GGA3_ENST00000578348.1_Missense_Mutation_p.L542F|GGA3_ENST00000582486.1_Missense_Mutation_p.L592F	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	664	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AATGGAGAGAGTTCTGTCCCA	0.532											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000125447						115	110	111					17																	73234804		2203	4300	6503	GGA3	SO:0001583	missense	0			-	HGNC	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1990C>T	17.37:g.73234804G>A	ENSP00000245541:p.Leu664Phe	Somatic	0	35	0	1143	0.52429534266604	35	33.96	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	37	32.73	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP							pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.L664F	ENST00000245541.6	37	c.1990	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007716	0.35415	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.54479	0.57;0.57;0.57	5.23	3.2	0.36748	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.234173	0.36101	N	0.002788	T	0.74913	0.3779	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.99	T	0.80587	-0.1316	10	0.87932	D	0	-21.4122	12.0928	0.53737	0.1419:0.0:0.8581:0.0	.	542;631;664	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	F	664;631;592;542	ENSP00000245541:L664F;ENSP00000326575:L631F;ENSP00000446421:L542F	ENSP00000245541:L664F	L	-	1	0	GGA3	70746399	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.879000	0.56138	1.437000	0.47472	0.557000	0.71058	CTC	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app		0.532	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	protein_coding	OTTHUMT00000446645.1	G	NM_138619	-		73234804	-1	no_errors	ENST00000245541	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73234804	G	A	73234804	3	1	196	1	0	0	0	0	1	0	0	0	6356	1029	36	2	277	2	GGA3	17	73234804	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7121	73234804	7960406	1910	15182											
KIAA0195	9772	genome.wustl.edu	37	chr17	73489030	73489030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcactcctggggccaagGagcttttcaagcaggagaac	12	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73489030G>A	ENST00000314256.7	+	16	2327	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	KIAA0195_ENST00000579208.1_Missense_Mutation_p.E296K|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E655K	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	645						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGGCCAAGGAGCTTTTCAA	0.607																																																	0								ENSG00000177728						76	82	80					17																	73489030		2203	4300	6503	KIAA0195	SO:0001583	missense	0			-	HGNC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1933G>A	17.37:g.73489030G>A	ENSP00000313885:p.Glu645Lys	Somatic	0	63	0		0.52429534266604	9	57.14	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	50	35.06	O75536|Q86XF1	Missense_Mutation	SNP							pfam_ATPase_P-typ_cation-transptr_C	p.E645K	ENST00000314256.7	37	c.1933	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204214	0.58234	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87491	-2.26;-2.26	5.73	4.76	0.60689	.	0.096375	0.64402	D	0.000001	T	0.81941	0.4929	L	0.34521	1.04	0.58432	D	0.999999	B;P;P	0.38504	0.18;0.634;0.501	B;B;B	0.39379	0.081;0.298;0.156	T	0.78797	-0.2063	10	0.20519	T	0.43	-31.8602	16.1586	0.81681	0.0:0.0:0.8654:0.1346	.	655;655;645	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	K	645;655	ENSP00000313885:E645K;ENSP00000364397:E655K	ENSP00000313885:E645K	E	+	1	0	KIAA0195	71000625	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.727000	0.98787	1.420000	0.47138	0.561000	0.74099	GAG	-	NULL		0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	protein_coding	OTTHUMT00000447303.1	G	NM_014738	-		73489030	1	no_errors	ENST00000314256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73489030	G	A	73489030	3	1	196	1	0	0	0	0	1	0	0	0	8162	1175	41	2	1991	2	KIAA0195	17	73489030	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	254226	73489030	7706180	1911	15183											
CASKIN2	57513	genome.wustl.edu	37	chr17	73498253	73498253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcggggcggggggcCagcgggcttcgggcgctgtt	20	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73498253C>T	ENST00000321617.3	-	18	3488	c.2902G>A	c.(2902-2904)Ggc>Agc	p.G968S	CASKIN2_ENST00000433559.2_Missense_Mutation_p.G886S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	968	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGGGGGGCCAGCGGGCTTC	0.672																																																	0								ENSG00000177303						15	23	21					17																	73498253		1767	3584	5351	CASKIN2	SO:0001583	missense	0			-	HGNC	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2902G>A	17.37:g.73498253C>T	ENSP00000325355:p.Gly968Ser	Somatic	0	26	0		0.52429534266604	27	27.03	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.G968S	ENST00000321617.3	37	c.2902	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450152	0.43531	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70749	-0.51;-0.33	5.0	2.97	0.34412	.	0.148815	0.31199	N	0.008069	T	0.57814	0.2079	L	0.38838	1.175	0.44966	D	0.997985	B	0.16166	0.016	B	0.10450	0.005	T	0.51957	-0.8639	10	0.40728	T	0.16	.	9.6862	0.40100	0.1407:0.7857:0.0:0.0736	.	968	Q8WXE0	CSKI2_HUMAN	S	968;886	ENSP00000325355:G968S;ENSP00000406963:G886S	ENSP00000325355:G968S	G	-	1	0	CASKIN2	71009848	0.884000	0.30299	0.143000	0.22291	0.085000	0.17905	2.684000	0.46951	0.669000	0.31146	0.591000	0.81541	GGC	-	NULL		0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	protein_coding	OTTHUMT00000447609.1	C	NM_020753	-		73498253	-1	no_errors	ENST00000321617	ensembl	human	known	74_37	missense	SNP	0.219	T	T	73498253	C	T	73498253	3	4	196	1	0	0	0	0	1	0	0	0	2669	594	21	2	718	2	CASKIN2	17	73498253	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9223	73498253	7696957	1912	15184											
CASKIN2	57513	genome.wustl.edu	37	chr17	73504326	73504326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactcacccatcagcatcCtggtagttcacgttgagcct	7	16	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73504326C>T	ENST00000321617.3	-	3	721	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CASKIN2_ENST00000433559.2_5'UTR|CASKIN2_ENST00000581870.1_Silent_p.Q45Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	45						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCAGCATCCTGGTAGTTCA	0.622																																																	0								ENSG00000177303						154	133	140					17																	73504326		2202	4300	6502	CASKIN2	SO:0001819	synonymous_variant	0			-	HGNC	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.135G>A	17.37:g.73504326C>T		Somatic	0	52	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	47	34.72	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q45	ENST00000321617.3	37	c.135	CCDS11723.1	17																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.622	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	protein_coding	OTTHUMT00000447609.1	C	NM_020753	-		73504326	-1	no_errors	ENST00000321617	ensembl	human	known	74_37	silent	SNP	1.000	T	T	73504326	C	T	73504326	2	4	196	1	0	0	0	0	0	0	0	1	2669	680	24	2		2	CASKIN2	17	73504326	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6073	73504326	7690884	1913	15185											
LLGL2	3993	genome.wustl.edu	37	chr17	73559835	73559835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgattcctttcctttcaggtCcctttccttgcaaagcgatt	6	13	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73559835C>A	ENST00000392550.3	+	9	946	c.829C>A	c.(829-831)Ccc>Acc	p.P277T	LLGL2_ENST00000375227.4_Missense_Mutation_p.P277T|LLGL2_ENST00000578363.1_Missense_Mutation_p.P277T|LLGL2_ENST00000577200.1_Missense_Mutation_p.P277T|LLGL2_ENST00000167462.5_Missense_Mutation_p.P277T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	277					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTTTCAGGTCCCTTTCCTTG	0.532																																																	0								ENSG00000073350						148	121	130					17																	73559835		2203	4300	6503	LLGL2	SO:0001583	missense	0			-	HGNC	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.829C>A	17.37:g.73559835C>A	ENSP00000376333:p.Pro277Thr	Somatic	0	50	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	47	32.86	Q14521|Q9BR62	Missense_Mutation	SNP							pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.P277T	ENST00000392550.3	37	c.829	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281986	0.40394	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.36878	3.25;3.37;1.23	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.252999	0.46758	D	0.000266	T	0.61689	0.2367	M	0.74467	2.265	0.58432	D	0.999999	P;P;D;D;D	0.67145	0.72;0.673;0.996;0.973;0.99	B;B;D;D;P	0.68039	0.434;0.307;0.954;0.955;0.897	T	0.64647	-0.6358	10	0.87932	D	0	-19.3239	19.2022	0.93715	0.0:1.0:0.0:0.0	.	266;266;277;277;277	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	277;277;277;266	ENSP00000167462:P277T;ENSP00000376333:P277T;ENSP00000364375:P277T	ENSP00000167462:P277T	P	+	1	0	LLGL2	71071430	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.638000	0.54332	2.712000	0.92718	0.561000	0.74099	CCC	-	pfam_LLGL2,superfamily_WD40_repeat_dom		0.532	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	protein_coding	OTTHUMT00000447633.1	C	NM_004524	-		73559835	1	no_errors	ENST00000392550	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73559835	C	A	73559835	3	1	196	1	0	0	0	0	1	0	0	0	8836	855	30	3	859	3	LLGL2	17	73559835	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	55509	73559835	7635375	1914	15186											
EVPL	2125	genome.wustl.edu	37	chr17	74007888	74007888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgcaggggagccactcGgggtctcttgggggctgaca	16	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:74007888G>A	ENST00000301607.3	-	20	2786	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R867*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	845	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGAGCCACTCGGGGTCTCTTG	0.622																																																	0								ENSG00000167880						29	32	31					17																	74007888		2203	4300	6503	EVPL	SO:0001587	stop_gained	0			-	HGNC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2533C>T	17.37:g.74007888G>A	ENSP00000301607:p.Arg845*	Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	A0AUV5	Nonsense_Mutation	SNP							pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R845*	ENST00000301607.3	37	c.2533	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.291506	0.99127	.	.	ENSG00000167880	ENST00000301607	.	.	.	5.49	3.46	0.39613	.	0.865038	0.10312	N	0.689880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1919	8.1967	0.31400	0.0792:0.0:0.7586:0.1622	.	.	.	.	X	845	.	ENSP00000301607:R845X	R	-	1	2	EVPL	71519483	0.480000	0.25933	0.981000	0.43875	0.970000	0.65996	2.752000	0.47516	1.259000	0.44117	0.655000	0.94253	CGA	-	NULL		0.622	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	G	NM_001988	-		74007888	-1	no_errors	ENST00000301607	ensembl	human	known	74_37	nonsense	SNP	0.444	A	A	74007888	G	A	74007888	4	1	196	1	0	0	0	0	0	1	0	0	5294	1124	39	1	3580	1	EVPL	17	74007888	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	448053	74007888	7187322	1915	15187											
UBE2O	63893	genome.wustl.edu	37	chr17	74395724	74395724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctcatcatctgcgtcCtgctctgccgagtgcagcct	10	16	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:74395724C>T	ENST00000319380.7	-	9	1498	c.1434G>A	c.(1432-1434)caG>caA	p.Q478Q	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	478					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCTGCGTCCTGCTCTGCCG	0.627																																																	0								ENSG00000175931						112	92	99					17																	74395724		2203	4300	6503	UBE2O	SO:0001819	synonymous_variant	0			-	HGNC	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1434G>A	17.37:g.74395724C>T		Somatic	0	33	0		0.52429534266604	3	70	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Q478	ENST00000319380.7	37	c.1434	CCDS32742.1	17																																																																																			-	NULL		0.627	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	protein_coding	OTTHUMT00000450123.1	C	NM_022066	-		74395724	-1	no_errors	ENST00000319380	ensembl	human	known	74_37	silent	SNP	1.000	T	T	74395724	C	T	74395724	2	4	196	1	0	0	0	0	0	0	0	1	16875	680	24	2		2	UBE2O	17	74395724	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	387836	74395724	6799486	1916	15188											
RHBDF2	79651	genome.wustl.edu	37	chr17	74474927	74474927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcaagctcatgtgggcCacagacattctcttgcggcg	12	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:74474927C>T	ENST00000313080.4	-	6	993	c.720G>A	c.(718-720)gtG>gtA	p.V240V	RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000591885.1_Silent_p.V211V|RHBDF2_ENST00000389760.4_Silent_p.V211V	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	240					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						TCATGTGGGCCACAGACATTC	0.687																																																	0								ENSG00000129667						50	43	45					17																	74474927		2203	4300	6503	RHBDF2	SO:0001819	synonymous_variant	0			-	HGNC	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.720G>A	17.37:g.74474927C>T		Somatic	0	27	0		0.52429534266604	11	42.11	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP							pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.V240	ENST00000313080.4	37	c.720	CCDS32743.1	17																																																																																			-	pfam_Rhomboid_SP		0.687	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	protein_coding	OTTHUMT00000450134.1	C	NM_024599	-		74474927	-1	no_errors	ENST00000313080	ensembl	human	known	74_37	silent	SNP	1.000	T	T	74474927	C	T	74474927	2	4	196	1	0	0	0	0	0	0	0	1	13328	581	21	2		2	RHBDF2	17	74474927	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	79203	74474927	6720283	1917	15189											
SEC14L1	6397	genome.wustl.edu	37	chr17	75186902	75186902	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggcctatgaaaggaggttCcctacatgtcctttgattcc	9	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:75186902C>T	ENST00000413679.2	+	4	384	c.81C>T	c.(79-81)ttC>ttT	p.F27F	SEC14L1_ENST00000436233.4_Silent_p.F27F|SEC14L1_ENST00000585618.1_Silent_p.F27F|SEC14L1_ENST00000392476.2_Silent_p.F27F|SEC14L1_ENST00000591437.1_5'UTR|SEC14L1_ENST00000430767.4_Silent_p.F27F|SEC14L1_ENST00000443798.4_Silent_p.F27F|SEC14L1_ENST00000431431.2_5'UTR	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	27	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAAGGAGGTTCCCTACATGTC	0.463																																																	0								ENSG00000129657						98	89	92					17																	75186902		2203	4300	6503	SEC14L1	SO:0001819	synonymous_variant	0			-	HGNC	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.81C>T	17.37:g.75186902C>T		Somatic	0	41	0		0.52429534266604	4	60	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	46	36.99	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP							pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.F27	ENST00000413679.2	37	c.81	CCDS11752.1	17																																																																																			-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.463	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	protein_coding	OTTHUMT00000436240.1	C	NM_003003	-		75186902	1	no_errors	ENST00000392476	ensembl	human	known	74_37	silent	SNP	0.998	T	T	75186902	C	T	75186902	2	4	196	1	0	0	0	0	0	0	0	1	13989	854	30	2		2	SEC14L1	17	75186902	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	711975	75186902	6008308	1918	15190											
SOCS3	9021	genome.wustl.edu	37	chr17	76355018	76355018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaggttcgcctcgccGccggtcactgcgctccagta	12	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:76355018G>A	ENST00000330871.2	-	2	574	c.159C>T	c.(157-159)ggC>ggT	p.G53G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	53	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TCGCCTCGCCGCCGGTCACTG	0.647																																																	0								ENSG00000184557						13	12	12					17																	76355018		2173	4278	6451	SOCS3	SO:0001819	synonymous_variant	0			-	HGNC	AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.159C>T	17.37:g.76355018G>A		Somatic	0	41	0		0.52429534266604	22	43.59	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	54	37.50	O14509	Silent	SNP							pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.G53	ENST00000330871.2	37	c.159	CCDS11756.1	17																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2		0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	protein_coding	OTTHUMT00000437300.1	G		-		76355018	-1	no_errors	ENST00000330871	ensembl	human	known	74_37	silent	SNP	0.997	A	A	76355018	G	A	76355018	2	1	196	1	0	0	0	0	0	0	0	1	14923	1074	38	1		1	SOCS3	17	76355018	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1168116	76355018	4840192	1919	15191											
DNAH17	8632	genome.wustl.edu	37	chr17	76424752	76424752	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccatacagatagggactctCagggggcaggttctcatcga	13	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:76424752C>T	ENST00000585328.1	-	77	12551	c.12427G>A	c.(12427-12429)Gag>Aag	p.E4143K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E4142K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4142					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGGACTCTCAGGGGGCAGG	0.527																																																	0								ENSG00000187775						117	102	107					17																	76424752		2203	4300	6503	DNAH17	SO:0001583	missense	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12427G>A	17.37:g.76424752C>T	ENSP00000465516:p.Glu4143Lys	Somatic	0	41	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	46	35.21	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.E4142K	ENST00000585328.1	37	c.12424		17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144196	0.77888	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09538	2.97	5.07	5.07	0.68467	.	0.000000	0.50627	D	0.000105	T	0.50051	0.1593	H	0.98238	4.18	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.71978	-0.4429	10	0.87932	D	0	.	18.4676	0.90761	0.0:1.0:0.0:0.0	.	4143	E7EUM8	.	K	4143;4142	ENSP00000374490:E4142K	ENSP00000300671:E4143K	E	-	1	0	DNAH17	73936347	1.000000	0.71417	0.993000	0.49108	0.121000	0.20230	7.610000	0.82949	2.359000	0.80004	0.655000	0.94253	GAG	-	pfam_Dynein_heavy_dom		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	C	NM_173628	-		76424752	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76424752	C	T	76424752	3	4	196	1	0	0	0	0	1	0	0	0	4603	835	29	2	966	2	DNAH17	17	76424752	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	69734	76424752	4770458	1920	15192											
GAA	2548	genome.wustl.edu	37	chr17	78081460	78081460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccgagcacctcagtcCcctgatgctcagcaccagct	8	19	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:78081460C>T	ENST00000302262.3	+	4	1016	c.797C>T	c.(796-798)cCc>cTc	p.P266L	GAA_ENST00000390015.3_Missense_Mutation_p.P266L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	266			P -> S (in GSD2). {ECO:0000269|PubMed:20080426}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CACCTCAGTCCCCTGATGCTC	0.672																																																	0								ENSG00000171298						68	65	66					17																	78081460		2203	4300	6503	GAA	SO:0001583	missense	0			-	HGNC		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.797C>T	17.37:g.78081460C>T	ENSP00000305692:p.Pro266Leu	Somatic	0	31	0		0.52429534266604	120	18.24	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	29.41	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P266L	ENST00000302262.3	37	c.797	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458738	0.43634	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.86432	-2.12;-2.12	5.08	5.08	0.68730	Glycoside hydrolase-type carbohydrate-binding (1);	0.368895	0.31636	N	0.007304	D	0.85902	0.5805	L	0.59967	1.855	0.50467	D	0.999876	B	0.31256	0.316	B	0.33620	0.167	D	0.84595	0.0669	10	0.39692	T	0.17	-23.857	16.6483	0.85182	0.0:1.0:0.0:0.0	.	266	P10253	LYAG_HUMAN	L	266	ENSP00000305692:P266L;ENSP00000374665:P266L	ENSP00000305692:P266L	P	+	2	0	GAA	75696055	0.010000	0.17322	0.930000	0.37139	0.417000	0.31264	1.934000	0.40163	2.367000	0.80283	0.655000	0.94253	CCC	-	superfamily_Gal_mutarotase_SF_dom		0.672	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	protein_coding	OTTHUMT00000437441.1	C		-		78081460	1	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	SNP	0.996	T	T	78081460	C	T	78081460	3	4	196	1	0	0	0	0	1	0	0	0	6149	623	22	2	807	2	GAA	17	78081460	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1656708	78081460	3113750	1921	15193											
RNF213	57674	genome.wustl.edu	37	chr17	78349617	78349617	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctgttaacactgtttagaGaggtggctattttgtacaga	10	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:78349617G>A	ENST00000582970.1	+	51	13275	c.13132G>A	c.(13132-13134)Gag>Aag	p.E4378K	RNF213_ENST00000336301.6_Missense_Mutation_p.E2451K|RNF213_ENST00000508628.2_Missense_Mutation_p.E4427K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4378					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)			ACTGTTTAGAGAGGTGGCTAT	0.488																																																	0								ENSG00000173821						104	95	98					17																	78349617		2203	4300	6503	RNF213	SO:0001583	missense	0			-	HGNC	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.13132G>A	17.37:g.78349617G>A	ENSP00000464087:p.Glu4378Lys	Somatic	0	65	0		0.52429534266604	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	61	39.00	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E4378K	ENST00000582970.1	37	c.13132	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532378	0.64972	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25579	1.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.84219	2.685	0.37489	D	0.916306	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.953	T	0.63382	-0.6650	10	0.54805	T	0.06	.	16.6329	0.85038	0.0:0.0:1.0:0.0	.	4427;2451	C9JCP4;Q63HN8	.;RN213_HUMAN	K	4378;4427;2451	ENSP00000338218:E2451K	ENSP00000338218:E2451K	E	+	1	0	RNF213	75964212	1.000000	0.71417	0.485000	0.27403	0.104000	0.19210	7.362000	0.79507	2.597000	0.87782	0.555000	0.69702	GAG	-	NULL		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914	-		78349617	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	0.991	A	A	78349617	G	A	78349617	3	1	196	1	0	0	0	0	1	0	0	0	13485	943	33	2	13649	2	RNF213	17	78349617	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	268157	78349617	2845593	1922	15194											
MRPL12	6182	genome.wustl.edu	37	chr17	79671380	79671380	+	Missense_Mutation	SNP	C	C	T													ataacgcccccaaggagtacCcccccaagatacagcagctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79671380C>T	ENST00000333676.3	+	2	326	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	SLC25A10_ENST00000541223.1_Missense_Mutation_p.P61S|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000571730.1_Missense_Mutation_p.P61S	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAAGGAGTACCCCCCCAAGAT	0.602																																																	0								ENSG00000183048						71	62	65					17																	79671380		2203	4300	6503	SLC25A10	SO:0001583	missense	0			-	HGNC	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"Mitochondrial ribosomal proteins / large subunits"	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.181C>T	17.37:g.79671380C>T	ENSP00000333837:p.Pro61Ser	Somatic	0	32	0		0.52429534266604	606	39.4	394	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.77	Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.P61S	ENST00000333676.3	37	c.181	CCDS11785.1	17	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751811	0.69533	.	.	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	T;T	0.78364	-1.17;1.11	4.89	4.89	0.63831	.	0.179524	0.51477	D	0.000097	T	0.55752	0.1940	N	0.13003	0.285	0.80722	D	1	B;P	0.45474	0.01;0.859	B;B	0.40256	0.006;0.324	T	0.59010	-0.7534	10	0.06891	T	0.86	-1.2422	9.2729	0.37681	0.0:0.8707:0.0:0.1293	.	61;61	B4DLN1;P52815	.;RM12_HUMAN	S	61	ENSP00000439565:P61S;ENSP00000333837:P61S	ENSP00000330017:P61S	P	+	1	0	SLC25A10	77281785	0.994000	0.37717	0.994000	0.49952	0.955000	0.61496	2.707000	0.47143	2.554000	0.86153	0.655000	0.94253	CCC	-	NULL		0.602	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	protein_coding	OTTHUMT00000440812.1	C	NM_002949	-		79671380	1	no_errors	ENST00000541223	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79671380	C	T	79671380	3	4	196	1	0	0	0	0	1	0	0	0	9779	623	22	2	187	2	MRPL12	17	79671380	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1321763	79671380	1523830	1923	15195	348	2									
MRPL12	6182	genome.wustl.edu	37	chr17	79671381	79671381	+	Missense_Mutation	SNP	C	C	T													taacgcccccaaggagtaccCccccaagatacagcagctgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79671381C>T	ENST00000333676.3	+	2	327	c.182C>T	c.(181-183)cCc>cTc	p.P61L	SLC25A10_ENST00000541223.1_Missense_Mutation_p.P61L|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000571730.1_Missense_Mutation_p.P61L	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AAGGAGTACCCCCCCAAGATA	0.597																																																	0								ENSG00000183048						70	62	65					17																	79671381		2203	4300	6503	SLC25A10	SO:0001583	missense	0			-	HGNC	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"Mitochondrial ribosomal proteins / large subunits"	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.182C>T	17.37:g.79671381C>T	ENSP00000333837:p.Pro61Leu	Somatic	0	33	0		0.52429534266604	597	38.98	382	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.77	Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.P61L	ENST00000333676.3	37	c.182	CCDS11785.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.107388	0.94292	.	.	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	T;T	0.80304	-1.36;0.92	4.89	3.77	0.43336	.	0.179524	0.51477	N	0.000097	D	0.86883	0.6040	M	0.71581	2.175	0.80722	D	1	B;D	0.76494	0.024;0.999	B;D	0.67725	0.007;0.953	D	0.87094	0.2174	10	0.66056	D	0.02	-1.2422	10.998	0.47589	0.0:0.8894:0.0:0.1106	.	61;61	B4DLN1;P52815	.;RM12_HUMAN	L	61	ENSP00000439565:P61L;ENSP00000333837:P61L	ENSP00000330017:P61L	P	+	2	0	SLC25A10	77281786	0.998000	0.40836	0.993000	0.49108	0.955000	0.61496	7.037000	0.76531	1.045000	0.40225	0.655000	0.94253	CCC	-	NULL		0.597	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	protein_coding	OTTHUMT00000440812.1	C	NM_002949	-		79671381	1	no_errors	ENST00000541223	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79671381	C	T	79671381	3	4	196	1	0	0	0	0	1	0	0	0	9779	623	22	2	188	2	MRPL12	17	79671381	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	79671381	1523829	1924	15196	348	2									
PYCR1	5831	genome.wustl.edu	37	chr17	79891160	79891160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggtgacagagcggtcCctgcaggggagtccagcttc	15	11	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79891160C>T	ENST00000329875.8	-	7	954	c.890G>A	c.(889-891)gGg>gAg	p.G297E	MAFG-AS1_ENST00000583492.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.G324E|PYCR1_ENST00000403172.4_Missense_Mutation_p.G266E|PYCR1_ENST00000577756.1_3'UTR|RP11-498C9.13_ENST00000583521.1_RNA|MAFG-AS1_ENST00000582106.1_RNA|PYCR1_ENST00000337943.5_Intron	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	297			G -> R. {ECO:0000269|PubMed:22052856}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CAGAGCGGTCCCTGCAGGGGA	0.637																																																	0								ENSG00000183010						112	106	108					17																	79891160		2202	4299	6501	PYCR1	SO:0001583	missense	0			-	HGNC		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.890G>A	17.37:g.79891160C>T	ENSP00000328858:p.Gly297Glu	Somatic	0	28	0		0.52429534266604	156	57.49	211	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP							pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.G297E	ENST00000329875.8	37	c.890	CCDS11795.1	17	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809667	0.16537	.	.	ENSG00000183010	ENST00000329875;ENST00000402252	T;T	0.73789	-0.75;-0.78	3.61	-3.47	0.04753	.	0.424106	0.22940	N	0.053793	T	0.45337	0.1337	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27640	-1.0068	10	0.66056	D	0.02	.	4.25	0.10689	0.2682:0.2515:0.0:0.4804	.	324;297;297	B4DMU0;E7D7X9;P32322	.;.;P5CR1_HUMAN	E	297;324	ENSP00000328858:G297E;ENSP00000384949:G324E	ENSP00000328858:G297E	G	-	2	0	PYCR1	77484451	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.070000	0.11523	-0.396000	0.07703	-0.345000	0.07892	GGG	-	NULL		0.637	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	protein_coding	OTTHUMT00000441953.1	C		-		79891160	-1	no_errors	ENST00000329875	ensembl	human	known	74_37	missense	SNP	0.000	T	T	79891160	C	T	79891160	3	4	196	1	0	0	0	0	1	0	0	0	12863	623	22	2	161	2	PYCR1	17	79891160	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	219779	79891160	1304050	1925	15197											
STRA13	201254	genome.wustl.edu	37	chr17	79977184	79977184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccagctgcggaagcacCttctccagctggtccacgtc	10	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79977184C>T	ENST00000392359.3	-	4	272	c.216G>A	c.(214-216)aaG>aaA	p.K72K	STRA13_ENST00000580435.1_Splice_Site_p.K54K|STRA13_ENST00000584347.1_Missense_Mutation_p.R116K|STRA13_ENST00000306704.6_Silent_p.K54K|STRA13_ENST00000583767.1_5'UTR	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13	72					DNA repair (GO:0006281)|kinetochore assembly (GO:0051382)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	DNA binding (GO:0003677)					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGAAGCACCTTCTCCAGCT	0.682																																					NSCLC(66;370 1886 11380 28417)												0								ENSG00000169689						24	27	26					17																	79977184		2185	4289	6474	STRA13	SO:0001819	synonymous_variant	0			-	HGNC	BC009571	CCDS32772.1, CCDS59303.1, CCDS59302.1	17q25.3	2013-11-05	2012-12-07		ENSG00000169689	ENSG00000169689			11422	protein-coding gene	gene with protein product		615128	"stimulated by retinoic acid 13 homolog (mouse)"			8839844	Standard	NM_144998		Approved	MGC14480, MHF2, FAAP10	uc031rey.1	A8MT69	OTTHUMG00000132129	ENST00000392359.3:c.216G>A	17.37:g.79977184C>T		Somatic	0	49	0		0.52429534266604	334	39.38	217	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	55	37.50	O00281|O00282|Q96DD4|Q96F51	Missense_Mutation	SNP							pfam_CENP-X	p.R116K	ENST00000392359.3	37	c.347	CCDS59303.1	17																																																																																			-	NULL		0.682	STRA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA13	protein_coding	OTTHUMT00000255174.1	C	NM_144998	-		79977184	-1	no_errors	ENST00000584347	ensembl	human	putative	74_37	missense	SNP	0.999	T	T	79977184	C	T	79977184	2	4	196	1	0	0	0	0	0	0	0	1	15328	680	24	2		2	STRA13	17	79977184	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	86024	79977184	1218026	1926	15198											
CCDC57	284001	genome.wustl.edu	37	chr17	80115649	80115649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaagggccacggcgtccGaggctgggggctgcttcctg	16	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:80115649G>A	ENST00000389641.4	-	14	2252	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.S739L|RP11-1376P16.2_ENST00000579979.1_RNA|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392347.1_Missense_Mutation_p.S739L			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	739										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)			CACGGCGTCCGAGGCTGGGGG	0.667																																																	0								ENSG00000176155						19	25	23					17																	80115649		2025	4168	6193	CCDC57	SO:0001583	missense	0			-	HGNC	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.2216C>T	17.37:g.80115649G>A	ENSP00000374292:p.Ser739Leu	Somatic	0	75	0		0.52429534266604	24	35.14	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	88	34.81	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP							NULL	p.S739L	ENST00000389641.4	37	c.2216		17	.	.	.	.	.	.	.	.	.	.	G	8.331	0.826551	0.16749	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.24538	3.08;3.08;1.85	2.61	1.61	0.23674	.	4.260430	0.00775	N	0.001229	T	0.21103	0.0508	L	0.36672	1.1	0.09310	N	1	B;B	0.23490	0.022;0.086	B;B	0.10450	0.003;0.005	T	0.13710	-1.0499	10	0.28530	T	0.3	2.5824	5.5476	0.17073	0.1651:0.0:0.8349:0.0	.	739;739	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	L	739;739;247;739	ENSP00000374292:S739L;ENSP00000376158:S739L;ENSP00000376154:S739L	ENSP00000315967:S247L	S	-	2	0	CCDC57	77708938	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.711000	0.05019	0.423000	0.26033	0.462000	0.41574	TCG	-	NULL		0.667	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	protein_coding	OTTHUMT00000277182.3	G	NM_198082	-		80115649	-1	no_errors	ENST00000389641	ensembl	human	known	74_37	missense	SNP	0.000	A	A	80115649	G	A	80115649	3	1	196	1	0	0	0	0	1	0	0	0	2829	1059	37	1	547	1	CCDC57	17	80115649	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	138465	80115649	1079561	1927	15199											
LRRC30	339291	genome.wustl.edu	37	chr18	7231470	7231470	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctgaagagcctgcccagaGaagtgagcctcctacagtgc	12	13	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:7231470G>A	ENST00000383467.2	+	1	348	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	112										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCCCAGAGAAGTGAGCCT	0.602																																																	0								ENSG00000206422						39	44	42					18																	7231470		1988	4170	6158	LRRC30	SO:0001583	missense	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.334G>A	18.37:g.7231470G>A	ENSP00000372959:p.Glu112Lys	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	58	10.77		Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E112K	ENST00000383467.2	37	c.334	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048883	0.55110	.	.	ENSG00000206422	ENST00000383467	T	0.50277	0.75	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	L	0.39326	1.205	0.45580	D	0.998526	P	0.43938	0.822	P	0.49528	0.614	T	0.42275	-0.9461	10	0.38643	T	0.18	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	112	A6NM36	LRC30_HUMAN	K	112	ENSP00000372959:E112K	ENSP00000372959:E112K	E	+	1	0	LRRC30	7221470	1.000000	0.71417	0.037000	0.18230	0.096000	0.18686	9.157000	0.94714	2.827000	0.97445	0.650000	0.86243	GAA	-	smart_Leu-rich_rpt_typical-subtyp		0.602	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	G	XM_292678	-		7231470	1	no_errors	ENST00000383467	ensembl	human	known	74_37	missense	SNP	0.920	A	A	7231470	G	A	7231470	3	1	196	1	0	0	0	0	1	0	0	0	8987	943	33	2	336	2	LRRC30	18	7231470	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		7231470	70845778	1928	15200											
KIAA0802	23255	genome.wustl.edu	37	chr18	8825818	8825818	+	Missense_Mutation	SNP	C	C	T													aagggagagccccgtgcacaCcaccattaatgatggcctct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:8825818C>T	ENST00000306329.11	+	13	5267	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I	SOGA2_ENST00000518815.1_Missense_Mutation_p.T762I|SOGA2_ENST00000306285.7_Missense_Mutation_p.T762I|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1396I|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1437I|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1396I																							CCCGTGCACACCACCATTAAT	0.617																																																	0								ENSG00000168502						56	63	61					18																	8825818		2203	4300	6503	SOGA2	SO:0001583	missense	0			-	HGNC																												ENST00000306329.11:c.5267C>T	18.37:g.8825818C>T	ENSP00000305027:p.Thr1756Ile	Somatic	0	92	0		0.52429534266604	4	66.67	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	44	37.14		Missense_Mutation	SNP							pfam_SOGA	p.T1437I	ENST00000306329.11	37	c.4310		18	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976810	0.74360	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.55	4.69	0.59074	.	0.536582	0.17216	N	0.182540	T	0.52964	0.1767	M	0.67953	2.075	0.47407	D	0.999418	D;D	0.76494	0.993;0.999	P;D	0.69479	0.844;0.964	T	0.54125	-0.8340	10	0.59425	D	0.04	-10.7418	14.3979	0.67022	0.0:0.9287:0.0:0.0713	.	1747;1437	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	I	1458;1396;1437;1396;762	ENSP00000429556:T1396I;ENSP00000352927:T1437I;ENSP00000382924:T1396I;ENSP00000303670:T762I	ENSP00000303670:T762I	T	+	2	0	CCDC165	8815818	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	4.887000	0.63156	1.355000	0.45865	0.462000	0.41574	ACC	-	NULL		0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	protein_coding	OTTHUMT00000444141.1	C		-		8825818	1	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8825818	C	T	8825818	3	4	196	1	0	0	0	0	1	0	0	0	8196	507	18	2	4360	2	KIAA0802	18	8825818	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1594348	8825818	69251430	1929	15201	349	2									
KIAA0802	23255	genome.wustl.edu	37	chr18	8825819	8825819	+	Silent	SNP	C	C	T													agggagagccccgtgcacacCaccattaatgatggcctctc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:8825819C>T	ENST00000306329.11	+	13	5268	c.5268C>T	c.(5266-5268)acC>acT	p.T1756T	SOGA2_ENST00000518815.1_Silent_p.T762T|SOGA2_ENST00000306285.7_Silent_p.T762T|SOGA2_ENST00000517570.1_Silent_p.T1396T|SOGA2_ENST00000359865.3_Silent_p.T1437T|SOGA2_ENST00000400050.3_Silent_p.T1396T																							CCGTGCACACCACCATTAATG	0.617																																																	0								ENSG00000168502						56	63	60					18																	8825819		2203	4300	6503	SOGA2	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000306329.11:c.5268C>T	18.37:g.8825819C>T		Somatic	0	92	0		0.52429534266604	4	66.67	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	45	37.50		Silent	SNP							pfam_SOGA	p.T1437	ENST00000306329.11	37	c.4311		18																																																																																			-	NULL		0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	protein_coding	OTTHUMT00000444141.1	C		-		8825819	1	no_errors	ENST00000359865	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8825819	C	T	8825819	2	4	196	1	0	0	0	0	0	0	0	1	8196	581	21	2		2	KIAA0802	18	8825819	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	8825819	69251429	1930	15202	349	2									
SPIRE1	56907	genome.wustl.edu	37	chr18	12463462	12463462	+	Missense_Mutation	SNP	G	G	A													gccgtctctctggctggggtGttgatgatatgggcaggaat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:12463462G>A	ENST00000409402.4	-	12	1793	c.1526C>T	c.(1525-1527)aCa>aTa	p.T509I	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.T495I|SPIRE1_ENST00000383356.2_Missense_Mutation_p.T336I|SPIRE1_ENST00000309836.5_Missense_Mutation_p.T298I|SPIRE1_ENST00000453447.2_Missense_Mutation_p.T375I	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGGCTGGGGTGTTGATGATAT	0.453																																																	0								ENSG00000134278						96	91	93					18																	12463462		2203	4300	6503	SPIRE1	SO:0001583	missense	0			-	HGNC	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1526C>T	18.37:g.12463462G>A	ENSP00000387266:p.Thr509Ile	Somatic	0	52	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	41	43.06		Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD,smart_KIND	p.T509I	ENST00000409402.4	37	c.1526	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538108	0.85917	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.49139	0.8;1.45;1.38;0.8;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.991;0.993;1.0	P;P;D	0.83275	0.845;0.854;0.996	T	0.63042	-0.6725	10	0.35671	T	0.21	-16.4291	19.5527	0.95328	0.0:0.0:1.0:0.0	.	495;298;509	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	I	375;509;495;298;336	ENSP00000407050:T375I;ENSP00000387266:T509I;ENSP00000387226:T495I;ENSP00000309661:T298I;ENSP00000372847:T336I	ENSP00000309661:T298I	T	-	2	0	SPIRE1	12453462	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.259000	0.78381	2.705000	0.92388	0.585000	0.79938	ACA	-	NULL		0.453	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	protein_coding	OTTHUMT00000333109.2	G	XM_290818	-		12463462	-1	no_errors	ENST00000409402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12463462	G	A	12463462	3	1	196	1	0	0	0	0	1	0	0	0	15078	1377	48	2	768	2	SPIRE1	18	12463462	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3637643	12463462	65613786	1931	15203	350	2									
SPIRE1	56907	genome.wustl.edu	37	chr18	12463463	12463463	+	Missense_Mutation	SNP	T	T	A													ccgtctctctggctggggtgTtgatgatatgggcaggaatt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:12463463T>A	ENST00000409402.4	-	12	1792	c.1525A>T	c.(1525-1527)Aca>Tca	p.T509S	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.T495S|SPIRE1_ENST00000383356.2_Missense_Mutation_p.T336S|SPIRE1_ENST00000309836.5_Missense_Mutation_p.T298S|SPIRE1_ENST00000453447.2_Missense_Mutation_p.T375S	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGCTGGGGTGTTGATGATATG	0.458																																																	0								ENSG00000134278						96	91	93					18																	12463463		2203	4300	6503	SPIRE1	SO:0001583	missense	0			-	HGNC	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1525A>T	18.37:g.12463463T>A	ENSP00000387266:p.Thr509Ser	Somatic	0	52	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	42	41.67		Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD,smart_KIND	p.T509S	ENST00000409402.4	37	c.1525	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172167	0.78452	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.45276	0.91;1.54;1.5;0.9;0.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	L	0.46157	1.445	0.54753	D	0.999989	D;B;D	0.71674	0.984;0.427;0.998	P;B;D	0.76071	0.763;0.131;0.987	T	0.46176	-0.9210	10	0.08837	T	0.75	-16.4291	15.729	0.77788	0.0:0.0:0.0:1.0	.	495;298;509	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	S	375;509;495;298;336	ENSP00000407050:T375S;ENSP00000387266:T509S;ENSP00000387226:T495S;ENSP00000309661:T298S;ENSP00000372847:T336S	ENSP00000309661:T298S	T	-	1	0	SPIRE1	12453463	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.569000	0.60865	2.183000	0.69458	0.477000	0.44152	ACA	-	NULL		0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	protein_coding	OTTHUMT00000333109.2	T	XM_290818	-		12463463	-1	no_errors	ENST00000409402	ensembl	human	known	74_37	missense	SNP	0.999	A	A	12463463	T	A	12463463	3	1	196	1	0	0	0	0	1	0	0	0	15078	1725	60	5	769	5	SPIRE1	18	12463463	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	12463463	65613785	1932	15204	350	2									
RBBP8	5932	genome.wustl.edu	37	chr18	20572926	20572926	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaaaaaactagatcaaaatCtgaagatagtgcccttttca	6	7	3	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:20572926C>T	ENST00000399722.2	+	11	1487	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	RBBP8_ENST00000399725.2_Missense_Mutation_p.S379F|RBBP8_ENST00000327155.5_Missense_Mutation_p.S379F|RBBP8_ENST00000360790.5_Missense_Mutation_p.S379F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	379					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGATCAAAATCTGAAGATAGT	0.328								Homologous recombination																																									0								ENSG00000101773						64	68	67					18																	20572926		2203	4300	6503	RBBP8	SO:0001583	missense	0			-	HGNC	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1136C>T	18.37:g.20572926C>T	ENSP00000382628:p.Ser379Phe	Somatic	0	132	0		0.52429534266604	12	33.33	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	127	20.99	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP							pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.S379F	ENST00000399722.2	37	c.1136	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	c	17.63	3.438200	0.62955	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.48201	0.89;0.82;0.89;0.88;0.89	6.17	5.31	0.75309	.	0.305365	0.36268	N	0.002693	T	0.70029	0.3177	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.986;0.987	T	0.74842	-0.3527	10	0.87932	D	0	-10.3132	17.8654	0.88794	0.0:0.8784:0.1216:0.0	.	379;379;379	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	F	379	ENSP00000323050:S379F;ENSP00000382630:S379F;ENSP00000382628:S379F;ENSP00000382627:S379F;ENSP00000354024:S379F	ENSP00000323050:S379F	S	+	2	0	RBBP8	18826924	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.794000	0.55492	1.643000	0.50594	-0.121000	0.15023	TCT	-	NULL		0.328	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	protein_coding	OTTHUMT00000446387.1	C	NM_203291	-		20572926	1	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20572926	C	T	20572926	3	4	196	1	0	0	0	0	1	0	0	0	13113	913	32	2	1174	2	RBBP8	18	20572926	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8109463	20572926	57504322	1933	15205											
C18orf8	29919	genome.wustl.edu	37	chr18	21087014	21087014	+	Missense_Mutation	SNP	C	C	T													tgttcagaggacctcaaagaCtgtggtaagacttatcttta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21087014C>T	ENST00000269221.3	+	3	370	c.260C>T	c.(259-261)aCt>aTt	p.T87I	C18orf8_ENST00000590868.1_Missense_Mutation_p.T87I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	87						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTCAAAGACTGTGGTAAGA	0.328																																																	0								ENSG00000141452						141	153	149					18																	21087014		2203	4300	6503	C18orf8	SO:0001583	missense	0			-	HGNC	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.260C>T	18.37:g.21087014C>T	ENSP00000269221:p.Thr87Ile	Somatic	0	113	0		0.52429534266604	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	94	18.97	Q9BU17|Q9Y5M0	Missense_Mutation	SNP							pfam_Mic1,superfamily_WD40_repeat_dom	p.T87I	ENST00000269221.3	37	c.260	CCDS32803.1	18	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720654	0.48728	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.13089	2.62	5.87	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.252329	0.46758	D	0.000269	T	0.12646	0.0307	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.003	T	0.09164	-1.0687	10	0.32370	T	0.25	-7.8176	6.4215	0.21746	0.129:0.6575:0.14:0.0735	.	87;87	Q96DM3;F5H2W0	MIC1_HUMAN;.	I	87	ENSP00000269221:T87I	ENSP00000269221:T87I	T	+	2	0	C18orf8	19341012	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.749000	0.55150	2.789000	0.95967	0.650000	0.86243	ACT	-	superfamily_WD40_repeat_dom		0.328	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	protein_coding	OTTHUMT00000445386.1	C	NM_013326	-		21087014	1	no_errors	ENST00000269221	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21087014	C	T	21087014	3	4	196	1	0	0	0	0	1	0	0	0	1909	565	20	2	270	2	C18orf8	18	21087014	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	514088	21087014	56990234	1934	15206	351	2									
C18orf8	29919	genome.wustl.edu	37	chr18	21087017	21087017	+	Splice_Site	DEL	T	T	-													tcagaggacctcaaagactgTggtaagacttatctttaaaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21087017delT	ENST00000269221.3	+	3	373	c.263delT	c.(262-264)gtg>gg	p.V88fs	C18orf8_ENST00000590868.1_Splice_Site_p.V89fs	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	88						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAAAGACTGTGGTAAGACTT	0.318																																																	0								ENSG00000141452						137	148	145					18																	21087017		2203	4300	6503	C18orf8	SO:0001630	splice_region_variant	0				HGNC	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.264+1T>-	18.37:g.21087017delT		Somatic	0	115	0		0.52429534266604	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	92	19.30	Q9BU17|Q9Y5M0	Frame_Shift_Del	DEL							pfam_Mic1,superfamily_WD40_repeat_dom	p.V88fs	ENST00000269221.3	37	c.263	CCDS32803.1	18																																																																																			-	superfamily_WD40_repeat_dom		0.318	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	protein_coding	OTTHUMT00000445386.1	T	NM_013326		Frame_Shift_Del	21087017	1	no_errors	ENST00000269221	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	21087017	T	-	21087017	8	5	196	1	0	1	0	1	0	0	1	0	1909	1710	59	0	273	0	C18orf8	18	21087017	Splice_Site	DEL	T	TCGA-QC-A7B5-01A-11D-A33E-09	3	21087017	56990231	1935	15207	351	2									
C18orf8	29919	genome.wustl.edu	37	chr18	21109648	21109648	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgatggaatacattcgttCtcttaaccagtttcagattg	8	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21109648C>T	ENST00000269221.3	+	16	1576	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F	C18orf8_ENST00000590868.1_Missense_Mutation_p.S441F|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	489	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACATTCGTTCTCTTAACCAG	0.388																																																	0								ENSG00000141452						155	153	153					18																	21109648		2203	4300	6503	C18orf8	SO:0001583	missense	0			-	HGNC	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1466C>T	18.37:g.21109648C>T	ENSP00000269221:p.Ser489Phe	Somatic	0	22	0		0.52429534266604	48	18.64	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q9BU17|Q9Y5M0	Missense_Mutation	SNP							pfam_Mic1,superfamily_WD40_repeat_dom	p.S489F	ENST00000269221.3	37	c.1466	CCDS32803.1	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938417	0.92526	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	Colon cancer-associated Mic1-like (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88458	0.3053	9	0.87932	D	0	-0.034	19.4741	0.94979	0.0:1.0:0.0:0.0	.	332;489	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	F	489;332;441;332	.	ENSP00000269221:S489F	S	+	2	0	C18orf8	19363646	1.000000	0.71417	0.964000	0.40570	0.986000	0.74619	7.331000	0.79192	2.595000	0.87683	0.655000	0.94253	TCT	-	pfam_Mic1		0.388	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	protein_coding	OTTHUMT00000445386.1	C	NM_013326	-		21109648	1	no_errors	ENST00000269221	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21109648	C	T	21109648	3	4	196	1	0	0	0	0	1	0	0	0	1909	913	32	2	1528	2	C18orf8	18	21109648	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	22631	21109648	56967600	1936	15208											
LAMA3	3909	genome.wustl.edu	37	chr18	21437869	21437869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccgggttttaccgctttCctgagtgtgttccctgcaat	9	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21437869C>T	ENST00000313654.9	+	33	4439	c.4198C>T	c.(4198-4200)Cct>Tct	p.P1400S	LAMA3_ENST00000399516.3_Missense_Mutation_p.P1400S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1400	Domain III B.|Laminin EGF-like 11. {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)					TTACCGCTTTCCTGAGTGTGT	0.522																																																	0								ENSG00000053747						158	159	159					18																	21437869		2028	4180	6208	LAMA3	SO:0001583	missense	0			-	HGNC	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.4198C>T	18.37:g.21437869C>T	ENSP00000324532:p.Pro1400Ser	Somatic	0	85	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	87	15.53	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P1400S	ENST00000313654.9	37	c.4198	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039563	0.93630	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.61742	0.08;0.08	5.43	5.43	0.79202	EGF-like, laminin (4);	.	.	.	.	T	0.74543	0.3730	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75167	-0.3413	9	0.62326	D	0.03	.	19.6064	0.95583	0.0:1.0:0.0:0.0	.	1400;1400	Q6VU67;Q16787	.;LAMA3_HUMAN	S	1400;1400;1398	ENSP00000324532:P1400S;ENSP00000382432:P1400S	ENSP00000324532:P1400S	P	+	1	0	LAMA3	19691867	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	7.253000	0.78320	2.710000	0.92621	0.561000	0.74099	CCT	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.522	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129	-		21437869	1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21437869	C	T	21437869	3	4	196	1	0	0	0	0	1	0	0	0	8609	855	30	2	4328	2	LAMA3	18	21437869	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	328221	21437869	56639379	1937	15209											
ASXL3	80816	genome.wustl.edu	37	chr18	31320396	31320396	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccagagaggaaccaagggttCcccctctcaaggtatggtat	11	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:31320396C>G	ENST00000269197.5	+	11	3028	c.3028C>G	c.(3028-3030)Ccc>Gcc	p.P1010A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1010					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						ACCAAGGGTTCCCCCTCTCAA	0.413																																																	0								ENSG00000141431						23	23	23					18																	31320396		1817	4075	5892	ASXL3	SO:0001583	missense	0			-	HGNC	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.3028C>G	18.37:g.31320396C>G	ENSP00000269197:p.Pro1010Ala	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	66	23.26	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.P1010A	ENST00000269197.5	37	c.3028	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786061	0.70337	.	.	ENSG00000141431	ENST00000269197	T	0.51574	0.7	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.70404	0.3220	M	0.72353	2.195	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.71237	-0.4652	10	0.66056	D	0.02	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	1010	Q9C0F0	ASXL3_HUMAN	A	1010	ENSP00000269197:P1010A	ENSP00000269197:P1010A	P	+	1	0	ASXL3	29574394	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.769000	0.74985	2.718000	0.92993	0.655000	0.94253	CCC	-	NULL		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	C		-		31320396	1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	SNP	1.000	G	G	31320396	C	G	31320396	3	3	196	1	0	0	0	0	1	0	0	0	1068	855	30	4	3070	4	ASXL3	18	31320396	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9882527	31320396	46756852	1938	15210											
ASXL3	80816	genome.wustl.edu	37	chr18	31323276	31323276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaacaaaaatggaaggttCgactggtgtcattattgtca	10	5	2	1	rs377619533		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:31323276C>T	ENST00000269197.5	+	12	3464	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1155					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						ATGGAAGGTTCGACTGGTGTC	0.498																																																	0								ENSG00000141431						40	40	40					18																	31323276		1888	4121	6009	ASXL3	SO:0001583	missense	0			-	HGNC	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.3464C>T	18.37:g.31323276C>T	ENSP00000269197:p.Ser1155Leu	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	11	62.07	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.S1155L	ENST00000269197.5	37	c.3464	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236795	0.79800	.	.	ENSG00000141431	ENST00000269197	T	0.52057	0.68	5.91	5.91	0.95273	.	0.646750	0.14260	N	0.330853	T	0.65739	0.2720	L	0.44542	1.39	0.48135	D	0.999597	D	0.89917	1.0	D	0.80764	0.994	T	0.64179	-0.6468	10	0.72032	D	0.01	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1155	Q9C0F0	ASXL3_HUMAN	L	1155	ENSP00000269197:S1155L	ENSP00000269197:S1155L	S	+	2	0	ASXL3	29577274	0.994000	0.37717	0.909000	0.35828	0.905000	0.53344	3.223000	0.51231	2.802000	0.96397	0.655000	0.94253	TCG	-	NULL		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	C		-		31323276	1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	SNP	0.995	T	T	31323276	C	T	31323276	3	4	196	1	0	0	0	0	1	0	0	0	1068	893	31	1	3510	1	ASXL3	18	31323276	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2880	31323276	46753972	1939	15211											
RPRD1A	55197	genome.wustl.edu	37	chr18	33607240	33607240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcacctgaggctgcattttCcagatcttgtaatgctctaa	7	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:33607240C>T	ENST00000399022.4	-	5	691	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	RPRD1A_ENST00000357384.4_Missense_Mutation_p.E174K|RPRD1A_ENST00000319040.6_Missense_Mutation_p.E174K|RPRD1A_ENST00000588737.1_Missense_Mutation_p.E138K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.E138K|RPRD1A_ENST00000337059.5_Missense_Mutation_p.E138K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	174					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTGCATTTTCCAGATCTTGT	0.353																																																	0								ENSG00000141425						115	118	117					18																	33607240		2203	4300	6503	RPRD1A	SO:0001583	missense	0			-	HGNC	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.520G>A	18.37:g.33607240C>T	ENSP00000381984:p.Glu174Lys	Somatic	0	31	0		0.52429534266604	4	60	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	8	68.00	A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP							pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.E174K	ENST00000399022.4	37	c.520	CCDS11917.1	18	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615170	0.87359	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.80616	2.505	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.974;1.0	D;P;D	0.85130	0.997;0.841;0.997	T	0.80178	-0.1490	9	0.42905	T	0.14	-16.2629	16.1081	0.81237	0.0:1.0:0.0:0.0	.	174;174;138	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	K	174;174;138;174	.	ENSP00000314602:E174K	E	-	1	0	RPRD1A	31861238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.726000	0.68515	2.467000	0.83353	0.650000	0.86243	GAA	-	NULL		0.353	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1A	protein_coding	OTTHUMT00000255802.1	C	NM_018170	-		33607240	-1	no_errors	ENST00000357384	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33607240	C	T	33607240	3	4	196	1	0	0	0	0	1	0	0	0	13623	864	30	2	430	2	RPRD1A	18	33607240	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2283964	33607240	44470008	1940	15212											
KIAA1632	57724	genome.wustl.edu	37	chr18	43497657	43497657	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacttactgctcattcttcaGaaggtaatactggcaagggt	9	9	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:43497657G>A	ENST00000282041.5	-	17	3260	c.3226C>T	c.(3226-3228)Ctg>Ttg	p.L1076L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1076					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATTCTTCAGAAGGTAATAC	0.403																																																	0								ENSG00000152223						170	158	162					18																	43497657		1872	4114	5986	EPG5	SO:0001819	synonymous_variant	0			-	HGNC	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3226C>T	18.37:g.43497657G>A		Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.00	A2BDF3|Q9H8C8	Silent	SNP							NULL	p.L1076	ENST00000282041.5	37	c.3226	CCDS11926.2	18																																																																																			-	NULL		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	protein_coding	OTTHUMT00000445081.1	G	NM_020964	-		43497657	-1	no_errors	ENST00000282041	ensembl	human	known	74_37	silent	SNP	1.000	A	A	43497657	G	A	43497657	2	1	196	1	0	0	0	0	0	0	0	1	8251	933	33	2		2	KIAA1632	18	43497657	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9890417	43497657	34579591	1941	15213											
TCEB3B	51224	genome.wustl.edu	37	chr18	44559473	44559473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggttttggccgcgggcgcCgcgtgctcattgctgctgct	16	13	1	0	rs192545475		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:44559473C>T	ENST00000332567.4	-	1	2515	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	721					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						CCGCGGGCGCCGCGTGCTCAT	0.617													C|||	1	0.000199681	0	0	5008	,	,		15371	0		0.001	False		,,,				2504	0																0								ENSG00000206181	C	,	0,4404		0,0,2202	45	52	49		2163,	-0.2	0	18		49	7,8591		0,7,4292	no	coding-synonymous,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	,	0,7,6494	TT,TC,CC		0.0814,0.0,0.0538	,	721/754,	44559473	7,12995	2202	4299	6501	TCEB3B	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	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.2163G>A	18.37:g.44559473C>T		Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q9P2V9	Silent	SNP							pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.A721	ENST00000332567.4	37	c.2163	CCDS11932.1	18																																																																																			-	NULL		0.617	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	C	NM_016427	rs192545475		44559473	-1	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	SNP	0.000	T	T	44559473	C	T	44559473	2	4	196	1	0	0	0	0	0	0	0	1	15689	639	23	1		1	TCEB3B	18	44559473	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1061816	44559473	33517775	1942	15214											
DCC	1630	genome.wustl.edu	37	chr18	51053024	51053024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgtgaaaacagcctcCcttgggttggctggaaaagc	11	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:51053024C>T	ENST00000442544.2	+	28	4765	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S	DCC_ENST00000581580.1_Silent_p.S1016S|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1383					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACAGCCTCCCTTGGGTTGG	0.473																																																	0								ENSG00000187323						115	107	110					18																	51053024		2203	4300	6503	DCC	SO:0001819	synonymous_variant	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4149C>T	18.37:g.51053024C>T		Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00		Silent	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1383	ENST00000442544.2	37	c.4149	CCDS11952.1	18																																																																																			-	pfam_Neogenin_C		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	C	NM_005215	-		51053024	1	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	SNP	0.980	T	T	51053024	C	T	51053024	2	4	196	1	0	0	0	0	0	0	0	1	4284	610	22	2		2	DCC	18	51053024	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6493551	51053024	27024224	1943	15215											
ZCCHC2	54877	genome.wustl.edu	37	chr18	60237413	60237413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttacagttctccatctagtCcccgacatgatggaagagaa	9	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:60237413C>T	ENST00000269499.5	+	12	2342	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P321S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	642						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCATCTAGTCCCCGACATGA	0.418																																																	0								ENSG00000141664						57	55	56					18																	60237413		1856	4111	5967	ZCCHC2	SO:0001583	missense	0			-	HGNC	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1924C>T	18.37:g.60237413C>T	ENSP00000269499:p.Pro642Ser	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP							pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P642S	ENST00000269499.5	37	c.1924	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395690	0.83011	.	.	ENSG00000141664	ENST00000269499	T	0.36520	1.25	5.08	5.08	0.68730	.	0.076834	0.53938	D	0.000047	T	0.46946	0.1419	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.13469	-1.0508	10	0.10902	T	0.67	-14.596	19.0333	0.92967	0.0:1.0:0.0:0.0	.	642	Q9C0B9	ZCHC2_HUMAN	S	642	ENSP00000269499:P642S	ENSP00000269499:P642S	P	+	1	0	ZCCHC2	58388393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.245000	0.72398	2.793000	0.96121	0.655000	0.94253	CCC	-	NULL		0.418	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	protein_coding	OTTHUMT00000450083.1	C	NM_017742	-		60237413	1	no_errors	ENST00000269499	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60237413	C	T	60237413	3	4	196	1	0	0	0	0	1	0	0	0	17594	855	30	2	1970	2	ZCCHC2	18	60237413	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9184389	60237413	17839835	1944	15216											
RTTN	25914	genome.wustl.edu	37	chr18	67727140	67727140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctttgcagtgtctctgGgagcaatcgtcaagaggttg	13	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:67727140G>A	ENST00000255674.6	-	36	5172	c.4886C>T	c.(4885-4887)cCc>cTc	p.P1629L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1629					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGTGTCTCTGGGAGCAATCGT	0.433																																																	0								ENSG00000176225						95	96	95					18																	67727140		1900	4124	6024	RTTN	SO:0001583	missense	0			-	HGNC	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4886C>T	18.37:g.67727140G>A	ENSP00000255674:p.Pro1629Leu	Somatic	0	73	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	30	54.55	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.P1629L	ENST00000255674.6	37	c.4886	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707725	0.48412	.	.	ENSG00000176225	ENST00000255674	T	0.63417	-0.04	5.66	5.66	0.87406	Armadillo-like helical (1);	0.051841	0.85682	D	0.000000	T	0.78792	0.4339	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80443	-0.1380	10	0.87932	D	0	.	16.6702	0.85264	0.0:0.0:1.0:0.0	.	1629	Q86VV8	RTTN_HUMAN	L	1629	ENSP00000255674:P1629L	ENSP00000255674:P1629L	P	-	2	0	RTTN	65878120	1.000000	0.71417	0.072000	0.20136	0.062000	0.15995	5.526000	0.67116	2.673000	0.90976	0.650000	0.86243	CCC	-	NULL		0.433	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	protein_coding	OTTHUMT00000442988.1	G	NM_173630	-		67727140	-1	no_errors	ENST00000255674	ensembl	human	known	74_37	missense	SNP	0.698	A	A	67727140	G	A	67727140	3	1	196	1	0	0	0	0	1	0	0	0	13745	1232	43	2	1850	2	RTTN	18	67727140	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	7489727	67727140	10350108	1945	15217											
CTDP1	9150	genome.wustl.edu	37	chr18	77474693	77474693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatctggccccctgcccaGgcccccaccagcagccaaga	9	20	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:77474693G>A	ENST00000299543.7	+	8	1380	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	CTDP1_ENST00000075430.7_Silent_p.Q411Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	411					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCCCTGCCCAGGCCCCCACCA	0.741																																																	0								ENSG00000060069						7	11	10					18																	77474693		2154	4215	6369	CTDP1	SO:0001819	synonymous_variant	0			-	HGNC	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1233G>A	18.37:g.77474693G>A		Somatic	0	30	0		0.52429534266604	10	37.5	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	15	62.50	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP							pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.Q411	ENST00000299543.7	37	c.1233	CCDS12017.1	18																																																																																			-	NULL		0.741	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	protein_coding	OTTHUMT00000256432.1	G	NM_004715	-		77474693	1	no_errors	ENST00000299543	ensembl	human	known	74_37	silent	SNP	0.000	A	A	77474693	G	A	77474693	2	1	196	1	0	0	0	0	0	0	0	1	4004	991	35	2		2	CTDP1	18	77474693	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	9747553	77474693	602555	1946	15218											
ADNP2	22850	genome.wustl.edu	37	chr18	77896525	77896525	+	Missense_Mutation	SNP	T	T	A													aaaaggaaatagaactgttgTcctcactcttttgggtgtgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:77896525T>A	ENST00000262198.4	+	4	3684	c.3229T>A	c.(3229-3231)Tcc>Acc	p.S1077T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1077					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGAACTGTTGTCCTCACTCTT	0.313																																																	0								ENSG00000101544						54	60	58					18																	77896525		2203	4295	6498	ADNP2	SO:0001583	missense	0			-	HGNC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3229T>A	18.37:g.77896525T>A	ENSP00000262198:p.Ser1077Thr	Somatic	0	82	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	24	53.85	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S1077T	ENST00000262198.4	37	c.3229	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432733	0.43224	.	.	ENSG00000101544	ENST00000262198	D	0.92099	-2.97	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.94621	0.8266	M	0.63843	1.955	0.09310	N	0.999995	D	0.71674	0.998	D	0.68353	0.957	D	0.89095	0.3485	9	.	.	.	-27.8575	14.423	0.67196	0.0:0.0:0.0:1.0	.	1077	Q6IQ32	ADNP2_HUMAN	T	1077	ENSP00000262198:S1077T	.	S	+	1	0	ADNP2	75997516	0.809000	0.29036	0.425000	0.26659	0.738000	0.42128	0.892000	0.28322	2.009000	0.58944	0.459000	0.35465	TCC	-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	T	NM_014913	-		77896525	1	no_errors	ENST00000262198	ensembl	human	known	74_37	missense	SNP	0.115	A	A	77896525	T	A	77896525	3	1	196	1	0	0	0	0	1	0	0	0	324	1667	58	5	3239	5	ADNP2	18	77896525	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	421832	77896525	180723	1947	15219	352	2									
ADNP2	22850	genome.wustl.edu	37	chr18	77896527	77896527	+	Silent	SNP	C	C	T													aaggaaatagaactgttgtcCtcactcttttgggtgtggaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:77896527C>T	ENST00000262198.4	+	4	3686	c.3231C>T	c.(3229-3231)tcC>tcT	p.S1077S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1077					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AACTGTTGTCCTCACTCTTTT	0.313																																																	0								ENSG00000101544						54	60	58					18																	77896527		2202	4295	6497	ADNP2	SO:0001819	synonymous_variant	0			-	HGNC	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3231C>T	18.37:g.77896527C>T		Somatic	0	81	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	24	52.94	A8K951|O94943|Q9H9P3	Silent	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S1077	ENST00000262198.4	37	c.3231	CCDS32853.1	18																																																																																			-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	C	NM_014913	-		77896527	1	no_errors	ENST00000262198	ensembl	human	known	74_37	silent	SNP	0.001	T	T	77896527	C	T	77896527	2	4	196	1	0	0	0	0	0	0	0	1	324	668	24	2		2	ADNP2	18	77896527	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	77896527	180721	1948	15220	352	2									
POLRMT	5442	genome.wustl.edu	37	chr19	621793	621793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaggtcagcgtgggctcCgcggccttctccagcagctg	14	14	2	0	rs543996685		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:621793C>T	ENST00000588649.2	-	10	1989	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	635					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GCGTGGGCTCCGCGGCCTTCT	0.682													C|||	1	0.000199681	0	0	5008	,	,		13811	0.001		0	False		,,,				2504	0																0								ENSG00000099821						30	33	32					19																	621793		2201	4298	6499	POLRMT	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1905G>A	19.37:g.621793C>T		Somatic	0	22	0		0.52429534266604	36	50	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	O60370	Silent	SNP							pfam_DNA-dir_Rpol_phage-type	p.A635	ENST00000588649.2	37	c.1905	CCDS12036.1	19																																																																																			-	NULL		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	protein_coding	OTTHUMT00000452172.3	C	NM_005035	-		621793	-1	no_errors	ENST00000588649	ensembl	human	known	74_37	silent	SNP	0.000	T	T	621793	C	T	621793	2	4	196	1	0	0	0	0	0	0	0	1	12240	639	23	1		1	POLRMT	19	621793	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		621793	58507190	1949	15221											
CNN2	1265	genome.wustl.edu	37	chr19	1032435	1032435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtccccaagatcaaccGctccatgcagaactggcacc	7	18	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1032435G>T	ENST00000263097.4	+	3	593	c.230G>T	c.(229-231)cGc>cTc	p.R77L	CNN2_ENST00000565096.2_Missense_Mutation_p.R77L|CNN2_ENST00000562958.2_Missense_Mutation_p.R77L|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.R77L	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	77	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		AAGATCAACCGCTCCATGCAG	0.622																																																	0								ENSG00000064666						89	90	90					19																	1032435		2203	4300	6503	CNN2	SO:0001583	missense	0			-	HGNC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.230G>T	19.37:g.1032435G>T	ENSP00000263097:p.Arg77Leu	Somatic	0	38	0		0.52429534266604	406	33.55	205	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP							pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.R77L	ENST00000263097.4	37	c.230	CCDS12053.1	19	.	.	.	.	.	.	.	.	.	.	G	12.49	1.955031	0.34471	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.60548	0.18;0.18	3.52	3.52	0.40303	Calponin homology domain (5);	0.634174	0.15068	U	0.282365	T	0.46229	0.1382	L	0.41124	1.26	0.28806	N	0.898516	P;B;B;B;B	0.34684	0.463;0.001;0.0;0.098;0.001	B;B;B;B;B	0.34652	0.187;0.012;0.005;0.079;0.012	T	0.45614	-0.9249	10	0.46703	T	0.11	.	8.1518	0.31145	0.0:0.0:0.7603:0.2396	.	77;77;77;77;77	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	L	77;77;56	ENSP00000263097:R77L;ENSP00000340129:R77L	ENSP00000263097:R77L	R	+	2	0	CNN2	983435	0.986000	0.35501	1.000000	0.80357	0.949000	0.60115	1.171000	0.31896	1.827000	0.53221	0.306000	0.20318	CGC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin		0.622	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	protein_coding	OTTHUMT00000420293.3	G	NM_004368	-		1032435	1	no_errors	ENST00000263097	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1032435	G	T	1032435	3	4	196	1	0	0	0	0	1	0	0	0	3612	1087	38	3	240	3	CNN2	19	1032435	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	410642	1032435	58096548	1950	15222											
ABCA7	10347	genome.wustl.edu	37	chr19	1062213	1062213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacctcagcatgggataCtgccctcaatccgatgccat	9	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1062213C>T	ENST00000263094.6	+	42	5844	c.5613C>T	c.(5611-5613)taC>taT	p.Y1871Y	ABCA7_ENST00000433129.1_Silent_p.Y1871Y|ABCA7_ENST00000435683.2_Silent_p.Y1733Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1871	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		GCATGGGATACTGCCCTCAAT	0.687																																																	0								ENSG00000064687						105	114	111					19																	1062213		2203	4300	6503	ABCA7	SO:0001819	synonymous_variant	0			-	HGNC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5613C>T	19.37:g.1062213C>T		Somatic	0	32	0		0.52429534266604	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y1871	ENST00000263094.6	37	c.5613	CCDS12055.1	19																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.687	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	protein_coding	OTTHUMT00000394993.1	C	NM_019112	-		1062213	1	no_errors	ENST00000263094	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1062213	C	T	1062213	2	4	196	1	0	0	0	0	0	0	0	1	37	576	20	2		2	ABCA7	19	1062213	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	29778	1062213	58066770	1951	15223											
HMHA1	23526	genome.wustl.edu	37	chr19	1083180	1083180	+	Missense_Mutation	SNP	G	G	A													ggacaacaagatgacccccgGgaacctgggcatcgtgttcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1083180G>A	ENST00000313093.2	+	21	3014	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E	HMHA1_ENST00000539243.2_Missense_Mutation_p.G944E|HMHA1_ENST00000543365.1_Missense_Mutation_p.G811E|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000590577.1_Missense_Mutation_p.G563E|HMHA1_ENST00000586866.1_Missense_Mutation_p.G932E|HMHA1_ENST00000590214.1_Missense_Mutation_p.G955E|HMHA1_ENST00000536472.1_Missense_Mutation_p.G796E	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	928	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		ATGACCCCCGGGAACCTGGGC	0.701																																																	0								ENSG00000180448						44	35	38					19																	1083180		2201	4299	6500	HMHA1	SO:0001583	missense	0			-	HGNC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2783G>A	19.37:g.1083180G>A	ENSP00000316772:p.Gly928Glu	Somatic	0	27	0		0.52429534266604	55	6.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G928E	ENST00000313093.2	37	c.2783	CCDS32863.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.948872|3.948872	0.73787|0.73787	.|.	.|.	ENSG00000180448|ENSG00000180448	ENST00000544746|ENST00000539243;ENST00000313093;ENST00000536472;ENST00000412039;ENST00000543365	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	4.22|4.22	3.13|3.13	0.36017|0.36017	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.108848	.|0.64402	.|D	.|0.000008	.|T	.|0.17662	.|0.0424	N|N	0.04132|0.04132	-0.27|-0.27	0.36379|0.36379	D|D	0.861783|0.861783	.|D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.974;0.998;0.998	.|D;D;D;P;P;D	.|0.72338	.|0.977;0.964;0.94;0.908;0.9;0.962	.|T	.|0.26503	.|-1.0101	.|10	.|0.25106	.|T	.|0.35	.|-30.2846	12.6145|12.6145	0.56569|0.56569	0.0:0.1685:0.8315:0.0|0.0:0.1685:0.8315:0.0	.|.	.|796;944;810;563;811;928	.|F5H4A3;F6QP70;B3KXW7;B3KVA9;F5H1R4;Q92619	.|.;.;.;.;.;HMHA1_HUMAN	.|E	-1|944;928;796;922;811	.|ENSP00000439601:G944E;ENSP00000316772:G928E;ENSP00000445109:G796E;ENSP00000438979:G811E	.|ENSP00000316772:G928E	.|G	+|+	.|2	.|0	HMHA1|HMHA1	1034180|1034180	1.000000|1.000000	0.71417|0.71417	0.740000|0.740000	0.30986|0.30986	0.951000|0.951000	0.60555|0.60555	4.449000|4.449000	0.60034|0.60034	0.715000|0.715000	0.32103|0.32103	0.491000|0.491000	0.48974|0.48974	.|GGG	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.701	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	protein_coding	OTTHUMT00000458026.1	G		-		1083180	1	no_errors	ENST00000313093	ensembl	human	known	74_37	missense	SNP	0.995	A	A	1083180	G	A	1083180	3	1	196	1	0	0	0	0	1	0	0	0	7242	1232	43	2	2865	2	HMHA1	19	1083180	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	20967	1083180	58045803	1952	15224	353	2									
HMHA1	23526	genome.wustl.edu	37	chr19	1083181	1083181	+	Silent	SNP	G	G	A													gacaacaagatgacccccggGaacctgggcatcgtgttcgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1083181G>A	ENST00000313093.2	+	21	3015	c.2784G>A	c.(2782-2784)ggG>ggA	p.G928G	HMHA1_ENST00000539243.2_Silent_p.G944G|HMHA1_ENST00000543365.1_Silent_p.G811G|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000590577.1_Silent_p.G563G|HMHA1_ENST00000586866.1_Silent_p.G932G|HMHA1_ENST00000590214.1_Silent_p.G955G|HMHA1_ENST00000536472.1_Silent_p.G796G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	928	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		TGACCCCCGGGAACCTGGGCA	0.706																																																	0								ENSG00000180448						44	36	39					19																	1083181		2201	4299	6500	HMHA1	SO:0001819	synonymous_variant	0			-	HGNC	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2784G>A	19.37:g.1083181G>A		Somatic	0	28	0		0.52429534266604	50	7.41	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G928	ENST00000313093.2	37	c.2784	CCDS32863.1	19																																																																																			-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.706	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	protein_coding	OTTHUMT00000458026.1	G		-		1083181	1	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	SNP	0.995	A	A	1083181	G	A	1083181	2	1	196	1	0	0	0	0	0	0	0	1	7242	1161	41	2		2	HMHA1	19	1083181	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	1083181	58045802	1953	15225	353	2									
MUM1	84939	genome.wustl.edu	37	chr19	1369299	1369299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcaaccaggacatcggCtggtgtgtctccctcatcac	9	14	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1369299C>T	ENST00000415183.3	+	9	1487	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	MUM1_ENST00000591806.1_Silent_p.G487G|MUM1_ENST00000311401.5_Silent_p.G418G|MUM1_ENST00000344663.3_Silent_p.G487G			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	486					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		AGGACATCGGCTGGTGTGTCT	0.622																																																	0								ENSG00000160953						83	67	72					19																	1369299		2203	4300	6503	MUM1	SO:0001819	synonymous_variant	0			-	HGNC	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1461C>T	19.37:g.1369299C>T		Somatic	0	106	0		0.52429534266604	41	25.45	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	129	25.29	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Silent	SNP							pfam_PWWP_dom	p.G487	ENST00000415183.3	37	c.1461		19																																																																																			-	NULL		0.622	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	protein_coding	OTTHUMT00000449510.1	C	NM_032853	-		1369299	1	no_errors	ENST00000344663	ensembl	human	known	74_37	silent	SNP	0.316	T	T	1369299	C	T	1369299	2	4	196	1	0	0	0	0	0	0	0	1	9987	784	28	2		2	MUM1	19	1369299	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	286118	1369299	57759684	1954	15226											
MEX3D	399664	genome.wustl.edu	37	chr19	1555363	1555363	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggctgaggcgccgccGggctgcggggtctccgtctc	18	13	2	2	rs538833811	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1555363G>A	ENST00000402693.4	-	0	2154				AC027307.1_ENST00000410788.1_RNA|MEX3D_ENST00000388824.6_Silent_p.P656P|AC027307.2_ENST00000581992.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D						mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGGCGCCGCCGGGCTGCGGGG	0.577																																																	0								ENSG00000181588						31	37	35					19																	1555363		2201	4298	6499	MEX3D	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.*199C>T	19.37:g.1555363G>A		Somatic	0	44	0		0.52429534266604	41	40	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.P656	ENST00000402693.4	37	c.1968	CCDS32865.2	19																																																																																			-	NULL		0.577	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	protein_coding	OTTHUMT00000317870.2	G	NM_203304	-		1555363	-1	no_errors	ENST00000388824	ensembl	human	known	74_37	silent	SNP	0.003	A	A	1555363	G	A	1555363	1	1	196	0	1	0	0	0	0	0	0	0	9514	1103	39	1		1	MEX3D	19	1555363	3'UTR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	186064	1555363	57573620	1955	15227											
MBD3	53615	genome.wustl.edu	37	chr19	1585070	1585070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccttgacctggttggagGagtcgtagcgcacgcgctgg	15	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1585070G>A	ENST00000434436.3	-	2	383	c.254C>T	c.(253-255)tCc>tTc	p.S85F	AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000156825.1_Missense_Mutation_p.S85F|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_Missense_Mutation_p.S53F|MBD3_ENST00000590550.2_Missense_Mutation_p.S29F|MBD3_ENST00000585967.1_5'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	85					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTTGGAGGAGTCGTAGCG	0.647																																																	0								ENSG00000071655						85	56	66					19																	1585070		2203	4300	6503	MBD3	SO:0001583	missense	0			-	HGNC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.254C>T	19.37:g.1585070G>A	ENSP00000412302:p.Ser85Phe	Somatic	0	15	0		0.52429534266604	194	25.67	67	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP							pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S85F	ENST00000434436.3	37	c.254	CCDS12072.1	19	.	.	.	.	.	.	.	.	.	.	G	5.720	0.317327	0.10845	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.96334	-3.98	5.09	4.01	0.46588	Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	0.339330	0.33980	N	0.004368	D	0.92061	0.7484	L	0.36672	1.1	0.39792	D	0.972447	P;B	0.36315	0.547;0.19	B;B	0.37888	0.26;0.125	D	0.89692	0.3898	10	0.10111	T	0.7	-36.464	11.588	0.50929	0.0:0.4025:0.5975:0.0	.	53;85	O95983-2;O95983	.;MBD3_HUMAN	F	53;85	ENSP00000156825:S85F	ENSP00000156825:S85F	S	-	2	0	MBD3	1536070	1.000000	0.71417	0.918000	0.36340	0.505000	0.33919	2.113000	0.41902	2.373000	0.80994	0.462000	0.41574	TCC	-	superfamily_DNA-bd_dom		0.647	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	protein_coding	OTTHUMT00000449658.2	G	NM_003926	-		1585070	-1	no_errors	ENST00000156825	ensembl	human	known	74_37	missense	SNP	0.911	A	A	1585070	G	A	1585070	3	1	196	1	0	0	0	0	1	0	0	0	9346	1174	41	2	641	2	MBD3	19	1585070	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	29707	1585070	57543913	1956	15228											
ATP8B3	148229	genome.wustl.edu	37	chr19	1787147	1787147	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggcagggtgctgtacagGaggttgaaaagagccaggaa	16	6	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1787147G>A	ENST00000310127.6	-	25	3346	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ATP8B3_ENST00000525591.1_Silent_p.L999L|ATP8B3_ENST00000539485.1_Silent_p.L1046L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1036					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|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)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TGCTGTACAGGAGGTTGAAAA	0.587																																																	0								ENSG00000130270						55	59	57					19																	1787147		1923	4135	6058	ATP8B3	SO:0001819	synonymous_variant	0			-	HGNC	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3108C>T	19.37:g.1787147G>A		Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L1046	ENST00000310127.6	37	c.3138	CCDS45901.1	19																																																																																			-	NULL		0.587	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	protein_coding	OTTHUMT00000388279.1	G	NM_138813	-		1787147	-1	no_errors	ENST00000539485	ensembl	human	known	74_37	silent	SNP	0.057	A	A	1787147	G	A	1787147	2	1	196	1	0	0	0	0	0	0	0	1	1196	1161	41	2		2	ATP8B3	19	1787147	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	202077	1787147	57341836	1957	15229											
FAM108A1	81926	genome.wustl.edu	37	chr19	1877605	1877605	+	Silent	SNP	G	G	A													agcaccaccgcggcacactcGtagcgcgaggccaggtccac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1877605G>A	ENST00000292577.7	-	4	1042	c.609C>T	c.(607-609)taC>taT	p.Y203Y	ABHD17A_ENST00000590661.1_Missense_Mutation_p.T172M|CTB-31O20.2_ENST00000565797.1_lincRNA|CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000250974.9_Silent_p.Y254Y	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	203						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CGGCACACTCGTAGCGCGAGG	0.677																																																	0								ENSG00000129968						10	11	11					19																	1877605		2106	4081	6187	ABHD17A	SO:0001819	synonymous_variant	0			-	HGNC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.609C>T	19.37:g.1877605G>A		Somatic	0	45	0		0.52429534266604	96	52.48	106	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP							NULL	p.T172M	ENST00000292577.7	37	c.515	CCDS45902.1	19																																																																																			-	NULL		0.677	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	protein_coding	OTTHUMT00000415556.2	G	NM_031213	-		1877605	-1	no_errors	ENST00000590661	ensembl	human	novel	74_37	missense	SNP	0.932	A	A	1877605	G	A	1877605	2	1	196	1	0	0	0	0	0	0	0	1	5393	1140	40	1		1	FAM108A1	19	1877605	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	90458	1877605	57251378	1958	15230	354	2									
FAM108A1	81926	genome.wustl.edu	37	chr19	1877606	1877606	+	Missense_Mutation	SNP	T	T	A													gcaccaccgcggcacactcgTagcgcgaggccaggtccacg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1877606T>A	ENST00000292577.7	-	4	1041	c.608A>T	c.(607-609)tAc>tTc	p.Y203F	ABHD17A_ENST00000590661.1_Missense_Mutation_p.T172S|CTB-31O20.2_ENST00000565797.1_lincRNA|CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000250974.9_Missense_Mutation_p.Y254F	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	203						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGCACACTCGTAGCGCGAGGC	0.682																																																	0								ENSG00000129968						10	11	11					19																	1877606		2106	4076	6182	ABHD17A	SO:0001583	missense	0			-	HGNC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.608A>T	19.37:g.1877606T>A	ENSP00000292577:p.Tyr203Phe	Somatic	0	45	0		0.52429534266604	95	52.26	104	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP							pfam_Dienelactn_hydro	p.Y254F	ENST00000292577.7	37	c.761	CCDS45902.1	19	.	.	.	.	.	.	.	.	.	.	t	13.93	2.384171	0.42308	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.23348	1.91;1.91	4.36	3.34	0.38264	.	0.187781	0.47455	D	0.000233	T	0.18882	0.0453	L	0.40543	1.245	0.20563	N	0.999887	B;B;B	0.17038	0.011;0.008;0.02	B;B;B	0.21151	0.033;0.029;0.03	T	0.17868	-1.0355	10	0.45353	T	0.12	-1.2498	5.7825	0.18314	0.0:0.0932:0.1688:0.738	.	203;254;203	Q96GS6;Q96GS6-2;Q96GS6-3	F18A1_HUMAN;.;.	F	254;203	ENSP00000250974:Y254F;ENSP00000292577:Y203F	ENSP00000250974:Y254F	Y	-	2	0	FAM108A1	1828606	1.000000	0.71417	0.926000	0.36857	0.946000	0.59487	3.273000	0.51623	0.649000	0.30751	0.459000	0.35465	TAC	-	pfam_Dienelactn_hydro		0.682	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	protein_coding	OTTHUMT00000415556.2	T	NM_031213	-		1877606	-1	no_errors	ENST00000250974	ensembl	human	known	74_37	missense	SNP	0.968	A	A	1877606	T	A	1877606	3	1	196	1	0	0	0	0	1	0	0	0	5393	1638	57	5	332	5	FAM108A1	19	1877606	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1	1877606	57251377	1959	15231	354	2									
FAM108A1	81926	genome.wustl.edu	37	chr19	1881390	1881390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcgcccgggtgcgcccgagGaggctctcagggtccccaag	16	15	1	0	rs564241676		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1881390G>T	ENST00000292577.7	-	2	609	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	ABHD17A_ENST00000590661.1_Missense_Mutation_p.S59Y|ABHD17A_ENST00000250974.9_Missense_Mutation_p.S59Y	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	59						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TGCGCCCGAGGAGGCTCTCAG	0.726																																																	0								ENSG00000129968						7	9	9					19																	1881390		1879	3956	5835	ABHD17A	SO:0001583	missense	0			-	HGNC	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.176C>A	19.37:g.1881390G>T	ENSP00000292577:p.Ser59Tyr	Somatic	0	30	0		0.52429534266604	53	48.54	50	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	28	53.33	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP							pfam_Dienelactn_hydro	p.S59Y	ENST00000292577.7	37	c.176	CCDS45902.1	19	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296441	0.23650	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32988	1.43;1.45	3.69	2.65	0.31530	.	0.808617	0.11070	N	0.603057	T	0.17408	0.0418	N	0.14661	0.345	0.34123	D	0.664365	B;P;P;P	0.44380	0.24;0.834;0.526;0.526	B;B;B;B	0.43889	0.109;0.435;0.218;0.319	T	0.10706	-1.0618	10	0.08837	T	0.75	-37.3077	7.0268	0.24944	0.1275:0.0:0.8725:0.0	.	59;59;59;59	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	Y	59	ENSP00000250974:S59Y;ENSP00000292577:S59Y	ENSP00000250974:S59Y	S	-	2	0	FAM108A1	1832390	.	.	0.215000	0.23724	0.093000	0.18481	.	.	0.905000	0.36596	0.561000	0.74099	TCC	-	NULL		0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	protein_coding	OTTHUMT00000415556.2	G	NM_031213	-		1881390	-1	no_errors	ENST00000250974	ensembl	human	known	74_37	missense	SNP	0.817	T	T	1881390	G	T	1881390	3	4	196	1	0	0	0	0	1	0	0	0	5393	1174	41	3	929	3	FAM108A1	19	1881390	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3784	1881390	57247593	1960	15232											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2416594	2416594	+	Missense_Mutation	SNP	G	G	A													cgtccctcctgggcctgggcGggagcccggtgaagatcggg					rs549297570		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:2416594G>A	ENST00000332578.3	+	11	1702	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	568	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGGCCTGGGCGGGAGCCCGGT	0.682													G|||	1	0.000199681	0	0	5008	,	,		15882	0.001		0	False		,,,				2504	0																0								ENSG00000178297						39	39	39					19																	2416594		2203	4296	6499	TMPRSS9	SO:0001583	missense	0			-	HGNC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1702G>A	19.37:g.2416594G>A	ENSP00000330264:p.Gly568Arg	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	Q6ZND6|Q7Z411	Missense_Mutation	SNP							pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G568R	ENST00000332578.3	37	c.1702	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033285	0.54896	.	.	ENSG00000178297	ENST00000332578	D	0.90261	-2.64	5.17	5.17	0.71159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000021	D	0.91576	0.7339	L	0.41710	1.295	0.32024	N	0.600378	D	0.89917	1.0	D	0.78314	0.991	D	0.89717	0.3916	10	0.26408	T	0.33	.	10.8166	0.46580	0.0886:0.0:0.9114:0.0	.	568	Q7Z410	TMPS9_HUMAN	R	568	ENSP00000330264:G568R	ENSP00000330264:G568R	G	+	1	0	TMPRSS9	2367594	0.121000	0.22262	0.993000	0.49108	0.467000	0.32768	2.286000	0.43496	2.415000	0.81967	0.484000	0.47621	GGG	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.682	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	protein_coding	OTTHUMT00000451330.3	G	NM_182973	-		2416594	1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	SNP	0.678	A	A	2416594	G	A	2416594	3	1	196	1	0	0	0	0	1	0	0	0	16260	1116	39	1	1744	1	TMPRSS9	19	2416594	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	535204	2416594	56712389	1961	15233	355	2									
TMPRSS9	360200	genome.wustl.edu	37	chr19	2416595	2416595	+	Missense_Mutation	SNP	G	G	A													gtccctcctgggcctgggcgGgagcccggtgaagatcgggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:2416595G>A	ENST00000332578.3	+	11	1703	c.1703G>A	c.(1702-1704)gGg>gAg	p.G568E		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	568	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGCCTGGGCGGGAGCCCGGTG	0.687																																																	0								ENSG00000178297						39	39	39					19																	2416595		2203	4296	6499	TMPRSS9	SO:0001583	missense	0			-	HGNC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1703G>A	19.37:g.2416595G>A	ENSP00000330264:p.Gly568Glu	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	43	21.82	Q6ZND6|Q7Z411	Missense_Mutation	SNP							pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G568E	ENST00000332578.3	37	c.1703	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585474	0.46110	.	.	ENSG00000178297	ENST00000332578	D	0.89681	-2.55	5.17	5.17	0.71159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000021	D	0.83977	0.5371	N	0.12182	0.205	0.31479	N	0.667396	D	0.54207	0.965	P	0.55345	0.774	T	0.79227	-0.1890	10	0.10111	T	0.7	.	13.0178	0.58768	0.0:0.1625:0.8374:0.0	.	568	Q7Z410	TMPS9_HUMAN	E	568	ENSP00000330264:G568E	ENSP00000330264:G568E	G	+	2	0	TMPRSS9	2367595	0.084000	0.21492	0.987000	0.45799	0.415000	0.31203	0.937000	0.28951	2.415000	0.81967	0.484000	0.47621	GGG	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.687	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	protein_coding	OTTHUMT00000451330.3	G	NM_182973	-		2416595	1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	SNP	0.659	A	A	2416595	G	A	2416595	3	1	196	1	0	0	0	0	1	0	0	0	16260	1232	43	2	1745	2	TMPRSS9	19	2416595	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	2416595	56712388	1962	15234	355	2									
GNA11	2767	genome.wustl.edu	37	chr19	3094702	3094702	+	Missense_Mutation	SNP	C	C	T													gagcgatgaggtgaaggagtCcaagcggatcaacgccgaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3094702C>T	ENST00000078429.4	+	1	295	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	18					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGAAGGAGTCCAAGCGGATC	0.721			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	0								ENSG00000088256						23	24	24					19																	3094702		2198	4300	6498	GNA11	SO:0001583	missense	0			-	HGNC	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.53C>T	19.37:g.3094702C>T	ENSP00000078429:p.Ser18Phe	Somatic	0	17	0		0.52429534266604	8	65.22	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	O15109|Q14350|Q6IB00	Missense_Mutation	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.S18F	ENST00000078429.4	37	c.53	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	24.1	4.490105	0.84962	.	.	ENSG00000088256	ENST00000078429	D	0.89050	-2.46	3.3	3.3	0.37823	.	0.000000	0.53938	U	0.000050	D	0.88081	0.6341	L	0.59912	1.85	0.47698	D	0.999496	P	0.37176	0.586	B	0.42495	0.389	D	0.89142	0.3517	10	0.87932	D	0	.	12.4012	0.55414	0.0:1.0:0.0:0.0	.	18	P29992	GNA11_HUMAN	F	18	ENSP00000078429:S18F	ENSP00000078429:S18F	S	+	2	0	GNA11	3045702	0.363000	0.24989	0.998000	0.56505	0.942000	0.58702	4.911000	0.63328	1.558000	0.49541	0.305000	0.20034	TCC	-	pfam_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.721	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	protein_coding	OTTHUMT00000452261.2	C	NM_002067	-		3094702	1	no_errors	ENST00000078429	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3094702	C	T	3094702	3	4	196	1	0	0	0	0	1	0	0	0	6501	855	30	2	55	2	GNA11	19	3094702	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	678107	3094702	56034281	1963	15235	356	2									
GNA11	2767	genome.wustl.edu	37	chr19	3094703	3094703	+	Silent	SNP	C	C	T													agcgatgaggtgaaggagtcCaagcggatcaacgccgagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3094703C>T	ENST00000078429.4	+	1	296	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	18					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TGAAGGAGTCCAAGCGGATCA	0.721			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	0								ENSG00000088256						23	24	24					19																	3094703		2199	4300	6499	GNA11	SO:0001819	synonymous_variant	0			-	HGNC	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.54C>T	19.37:g.3094703C>T		Somatic	0	17	0		0.52429534266604	7	69.57	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	O15109|Q14350|Q6IB00	Silent	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.S18	ENST00000078429.4	37	c.54	CCDS12103.1	19																																																																																			-	pfam_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.721	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	protein_coding	OTTHUMT00000452261.2	C	NM_002067	-		3094703	1	no_errors	ENST00000078429	ensembl	human	known	74_37	silent	SNP	1.000	T	T	3094703	C	T	3094703	2	4	196	1	0	0	0	0	0	0	0	1	6501	581	21	2		2	GNA11	19	3094703	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	3094703	56034280	1964	15236	356	2									
CELF5	60680	genome.wustl.edu	37	chr19	3282380	3282380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccgctgctgggcaccaCcgctgtgcctggcctcgtgg	13	18	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3282380C>T	ENST00000292672.2	+	8	960	c.923C>T	c.(922-924)aCc>aTc	p.T308I	CELF5_ENST00000541430.2_Intron|CELF5_ENST00000588101.1_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	308					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CTGGGCACCACCGCTGTGCCT	0.662																																																	0								ENSG00000161082						61	49	53					19																	3282380		2203	4300	6503	CELF5	SO:0001583	missense	0			-	HGNC	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.923C>T	19.37:g.3282380C>T	ENSP00000292672:p.Thr308Ile	Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T308I	ENST00000292672.2	37	c.923	CCDS12106.1	19	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847254	0.17034	.	.	ENSG00000161082	ENST00000292672;ENST00000334293	T;T	0.30714	2.25;1.52	4.6	3.48	0.39840	.	0.428167	0.25338	N	0.031384	T	0.19525	0.0469	N	0.19112	0.55	0.34319	D	0.6863	B;B	0.27068	0.035;0.167	B;B	0.29598	0.056;0.104	T	0.22347	-1.0219	10	0.48119	T	0.1	-0.7374	9.3122	0.37912	0.1586:0.6867:0.1546:0.0	.	194;308	B4DFI3;Q8N6W0	.;CELF5_HUMAN	I	308;194	ENSP00000292672:T308I;ENSP00000335182:T194I	ENSP00000292672:T308I	T	+	2	0	CELF5	3233380	0.911000	0.30947	0.006000	0.13384	0.332000	0.28634	5.644000	0.67902	2.279000	0.76181	0.561000	0.74099	ACC	-	NULL		0.662	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	protein_coding	OTTHUMT00000452574.1	C	NM_021938	-		3282380	1	no_errors	ENST00000292672	ensembl	human	known	74_37	missense	SNP	0.012	T	T	3282380	C	T	3282380	3	4	196	1	0	0	0	0	1	0	0	0	3221	507	18	2	953	2	CELF5	19	3282380	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	187677	3282380	55846603	1965	15237											
MATK	4145	genome.wustl.edu	37	chr19	3778366	3778366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggggcctggacagccctCggggggttccatgcggtacc	16	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3778366C>T	ENST00000310132.6	-	14	1737	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	MATK_ENST00000395045.2_Missense_Mutation_p.E448K|MATK_ENST00000585778.1_Missense_Mutation_p.E446K|MATK_ENST00000395040.2_Missense_Mutation_p.E406K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGCCCTCGGGGGGTTCC	0.697																																																	0								ENSG00000007264						29	35	33					19																	3778366		2202	4294	6496	MATK	SO:0001583	missense	0			-	HGNC	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1339G>A	19.37:g.3778366C>T	ENSP00000308734:p.Glu447Lys	Somatic	0	46	0		0.52429534266604	759	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	62	26.19	B3KNZ9|Q9NST8	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E448K	ENST00000310132.6	37	c.1342	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734095	0.48939	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82984	-1.67;-1.67;-1.67	3.89	2.85	0.33270	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.143965	0.44902	D	0.000404	T	0.68128	0.2967	N	0.12746	0.255	0.44668	D	0.997654	P;P;P	0.50528	0.911;0.936;0.911	B;B;B	0.42361	0.385;0.295;0.385	T	0.67401	-0.5680	10	0.39692	T	0.17	-29.928	10.814	0.46564	0.0:0.9064:0.0:0.0936	.	447;448;447	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	K	448;447;406	ENSP00000378485:E448K;ENSP00000308734:E447K;ENSP00000378481:E406K	ENSP00000308734:E447K	E	-	1	0	MATK	3729366	1.000000	0.71417	0.989000	0.46669	0.201000	0.24016	7.539000	0.82063	0.845000	0.35118	-0.219000	0.12488	GAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.697	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	protein_coding	OTTHUMT00000453639.1	C	NM_139355	-		3778366	-1	no_errors	ENST00000395045	ensembl	human	known	74_37	missense	SNP	0.999	T	T	3778366	C	T	3778366	3	4	196	1	0	0	0	0	1	0	0	0	9334	893	31	1	188	1	MATK	19	3778366	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	495986	3778366	55350617	1966	15238											
TMIGD2	126259	genome.wustl.edu	37	chr19	4292720	4292720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagggtctcgggctgGggcagggtcttgacgccagg	21	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:4292720G>A	ENST00000301272.2	-	5	770	c.725C>T	c.(724-726)cCc>cTc	p.P242L	TMIGD2_ENST00000600349.1_Missense_Mutation_p.P70L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.P238L|TMIGD2_ENST00000600114.1_Missense_Mutation_p.P122L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	242	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		tctcgggctggggcagggTCT	0.682																																																	0								ENSG00000167664						28	36	33					19																	4292720		2198	4289	6487	TMIGD2	SO:0001583	missense	0			-	HGNC	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.725C>T	19.37:g.4292720G>A	ENSP00000301272:p.Pro242Leu	Somatic	0	32	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	Q6UW59	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.P242L	ENST00000301272.2	37	c.725	CCDS12126.1	19	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.210722	0.00289	.	.	ENSG00000167664	ENST00000301272	T	0.32023	1.47	.	.	.	.	.	.	.	.	T	0.33990	0.0882	L	0.32530	0.975	0.09310	N	1	P;P	0.51449	0.945;0.909	P;P	0.59056	0.851;0.713	T	0.17684	-1.0361	7	0.45353	T	0.12	.	.	.	.	.	238;242	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	L	242	ENSP00000301272:P242L	ENSP00000301272:P242L	P	-	2	0	TMIGD2	4243720	0.719000	0.27986	0.079000	0.20413	0.038000	0.13279	0.089000	0.15002	0.088000	0.17205	0.089000	0.15464	CCC	-	NULL		0.682	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMIGD2	protein_coding	OTTHUMT00000458088.1	G	NM_144615	-		4292720	-1	no_errors	ENST00000301272	ensembl	human	known	74_37	missense	SNP	0.195	A	A	4292720	G	A	4292720	3	1	196	1	0	0	0	0	1	0	0	0	16238	1232	43	2	127	2	TMIGD2	19	4292720	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	514354	4292720	54836263	1967	15239											
PLIN4	729359	genome.wustl.edu	37	chr19	4510569	4510569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtggtggccaaaagccCcgtgtcctccctgcctgggg	15	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:4510569C>T	ENST00000301286.3	-	3	3360	c.3361G>A	c.(3361-3363)Ggg>Agg	p.G1121R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1121						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCAAAAGCCCCGTGTCCTCC	0.662																																																	0								ENSG00000167676						37	43	41					19																	4510569		2132	4227	6359	PLIN4	SO:0001583	missense	0			-	HGNC	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3361G>A	19.37:g.4510569C>T	ENSP00000301286:p.Gly1121Arg	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	58	39.58	A6NEI2	Missense_Mutation	SNP							pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.G1121R	ENST00000301286.3	37	c.3361	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	4.318	0.058276	0.08339	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	2.37	-1.37	0.09056	.	0.810714	0.09954	N	0.734254	T	0.02610	0.0079	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43861	-0.9365	10	0.52906	T	0.07	.	3.7239	0.08467	0.0:0.5265:0.202:0.2715	.	1121	Q96Q06	PLIN4_HUMAN	R	1121	ENSP00000301286:G1121R	ENSP00000301286:G1121R	G	-	1	0	PLIN4	4461569	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.148000	0.10219	-0.463000	0.06973	-1.943000	0.00494	GGG	-	NULL		0.662	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	protein_coding	OTTHUMT00000395095.1	C	XM_170901	-		4510569	-1	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	4510569	C	T	4510569	3	4	196	1	0	0	0	0	1	0	0	0	12094	623	22	2	728	2	PLIN4	19	4510569	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	217849	4510569	54618414	1968	15240											
KDM4B	23030	genome.wustl.edu	37	chr19	5077412	5077412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgcagggctgcgacgcCttcctgcggcataagatgac	13	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5077412C>T	ENST00000159111.4	+	8	929	c.711C>T	c.(709-711)gcC>gcT	p.A237A	KDM4B_ENST00000381759.4_Silent_p.A237A|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.A237A	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	237	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTGCGACGCCTTCCTGCGGC	0.657																																																	0								ENSG00000127663						133	136	135					19																	5077412		2203	4300	6503	KDM4B	SO:0001819	synonymous_variant	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.711C>T	19.37:g.5077412C>T		Somatic	0	70	0		0.52429534266604	7	36.36	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	48	25.00	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A237	ENST00000159111.4	37	c.711	CCDS12138.1	19																																																																																			-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.657	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	C	NM_015015	-		5077412	1	no_errors	ENST00000159111	ensembl	human	known	74_37	silent	SNP	0.998	T	T	5077412	C	T	5077412	2	4	196	1	0	0	0	0	0	0	0	1	8131	668	24	2		2	KDM4B	19	5077412	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	566843	5077412	54051571	1969	15241											
KDM4B	23030	genome.wustl.edu	37	chr19	5133995	5133995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcggccagcttccaggccGagaggaagttcaacgcagcg	16	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5133995G>A	ENST00000159111.4	+	14	2226	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E704K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	670					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCCAGGCCGAGAGGAAGTT	0.662																																																	0								ENSG00000127663						68	80	76					19																	5133995		2203	4300	6503	KDM4B	SO:0001583	missense	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2008G>A	19.37:g.5133995G>A	ENSP00000159111:p.Glu670Lys	Somatic	0	86	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	61	35.79	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E670K	ENST00000159111.4	37	c.2008	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.754429	0.96890	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.54675	0.56;0.56	3.87	3.87	0.44632	.	0.056968	0.64402	D	0.000002	T	0.73337	0.3574	M	0.80982	2.52	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.981	T	0.79598	-0.1737	10	0.87932	D	0	-30.3778	16.1948	0.82021	0.0:0.0:1.0:0.0	.	704;670	F5GX28;O94953	.;KDM4B_HUMAN	K	670;704	ENSP00000159111:E670K;ENSP00000440495:E704K	ENSP00000159111:E670K	E	+	1	0	KDM4B	5084995	1.000000	0.71417	0.820000	0.32676	0.982000	0.71751	9.602000	0.98312	1.858000	0.53909	0.561000	0.74099	GAG	-	NULL		0.662	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	G	NM_015015	-		5133995	1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5133995	G	A	5133995	3	1	196	1	0	0	0	0	1	0	0	0	8131	1059	37	1	2054	1	KDM4B	19	5133995	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	56583	5133995	53994988	1970	15242											
KDM4B	23030	genome.wustl.edu	37	chr19	5144825	5144825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccagctgggacccccttCcgagggggagctggtggagc	17	12	0	0	rs267605545		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5144825C>T	ENST00000159111.4	+	21	3151	c.2933C>T	c.(2932-2934)tCc>tTc	p.S978F	KDM4B_ENST00000536461.1_Missense_Mutation_p.S1012F	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	978	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.S978F(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGACCCCCTTCCGAGGGGGAG	0.622																																																	2	Substitution - Missense(2)	lung(1)|skin(1)						ENSG00000127663						61	58	59					19																	5144825		2203	4300	6503	KDM4B	SO:0001583	missense	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2933C>T	19.37:g.5144825C>T	ENSP00000159111:p.Ser978Phe	Somatic	0	105	0		0.52429534266604	26	21.21	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	102	13.56	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S978F	ENST00000159111.4	37	c.2933	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009226	0.19277	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.47177	0.85;0.85	4.53	3.45	0.39498	Tudor domain (1);	0.459239	0.23142	N	0.051445	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;B	0.32467	0.372;0.128	B;B	0.24269	0.052;0.021	T	0.27365	-1.0076	10	0.66056	D	0.02	-10.4725	9.5946	0.39567	0.0:0.7759:0.143:0.0811	.	1012;978	F5GX28;O94953	.;KDM4B_HUMAN	F	978;1012	ENSP00000159111:S978F;ENSP00000440495:S1012F	ENSP00000159111:S978F	S	+	2	0	KDM4B	5095825	0.007000	0.16637	0.320000	0.25306	0.361000	0.29550	2.325000	0.43840	0.843000	0.35070	0.491000	0.48974	TCC	-	smart_Tudor		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	C	NM_015015	-		5144825	1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	SNP	0.079	T	T	5144825	C	T	5144825	3	4	196	1	0	0	0	0	1	0	0	0	8131	855	30	2	3007	2	KDM4B	19	5144825	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	10830	5144825	53984158	1971	15243											
ZNRF4	148066	genome.wustl.edu	37	chr19	5456454	5456454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcctggatgagtatgagGagggcgaccaactcaagatc	13	9	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5456454G>A	ENST00000222033.4	+	1	1029	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	318						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGAGTATGAGGAGGGCGACCA	0.627																																																	0								ENSG00000105428						97	112	107					19																	5456454		2127	4238	6365	ZNRF4	SO:0001583	missense	0			-	HGNC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.952G>A	19.37:g.5456454G>A	ENSP00000222033:p.Glu318Lys	Somatic	0	23	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	12	57.14	A8K886|O75866	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E318K	ENST00000222033.4	37	c.952	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004643	0.74932	.	.	ENSG00000105428	ENST00000222033	T	0.47177	0.85	4.55	3.43	0.39272	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.205056	0.39475	U	0.001347	T	0.51736	0.1692	L	0.37561	1.115	0.43211	D	0.995078	P	0.48503	0.911	P	0.59115	0.852	T	0.51332	-0.8719	10	0.49607	T	0.09	-20.1779	11.0562	0.47920	0.0:0.1887:0.8113:0.0	.	318	Q8WWF5	ZNRF4_HUMAN	K	318	ENSP00000222033:E318K	ENSP00000222033:E318K	E	+	1	0	ZNRF4	5407454	1.000000	0.71417	0.542000	0.28115	0.638000	0.38207	3.200000	0.51051	2.072000	0.62099	0.491000	0.48974	GAG	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.627	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	protein_coding	OTTHUMT00000450924.1	G	NM_181710	-		5456454	1	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	SNP	0.999	A	A	5456454	G	A	5456454	3	1	196	1	0	0	0	0	1	0	0	0	18221	1175	41	2	954	2	ZNRF4	19	5456454	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	311629	5456454	53672529	1972	15244											
TMEM146	257062	genome.wustl.edu	37	chr19	5733903	5733903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatcagcacattttgctGgttcgttattgctgttagta	9	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5733903G>A	ENST00000381624.3	+	5	374	c.313G>A	c.(313-315)Ggt>Agt	p.G105S	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	105					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACATTTTGCTGGTTCGTTATT	0.328																																																	0								ENSG00000174898						164	159	161					19																	5733903		1884	4107	5991	CATSPERD	SO:0001583	missense	0			-	HGNC	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.313G>A	19.37:g.5733903G>A	ENSP00000371037:p.Gly105Ser	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	Q6ZRP1	Missense_Mutation	SNP							superfamily_WD40_repeat_dom	p.G105S	ENST00000381624.3	37	c.313	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	g	12.26	1.885033	0.33255	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22945	1.93	4.37	1.87	0.25490	.	0.664834	0.11611	U	0.546737	T	0.20251	0.0487	L	0.48362	1.52	0.09310	N	0.999996	P	0.36392	0.551	B	0.35727	0.209	T	0.20538	-1.0272	10	0.62326	D	0.03	.	4.3085	0.10958	0.1197:0.0:0.5981:0.2822	.	105	Q86XM0	TM146_HUMAN	S	31;105	ENSP00000371037:G105S	ENSP00000371037:G105S	G	+	1	0	TMEM146	5684903	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.358000	0.20216	0.968000	0.38212	0.651000	0.88453	GGT	-	superfamily_WD40_repeat_dom		0.328	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	protein_coding	OTTHUMT00000286953.2	G	NM_152784	-		5733903	1	no_errors	ENST00000381624	ensembl	human	known	74_37	missense	SNP	0.000	A	A	5733903	G	A	5733903	3	1	196	1	0	0	0	0	1	0	0	0	16067	1348	47	2	331	2	TMEM146	19	5733903	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	277449	5733903	53395080	1973	15245											
RANBP3	8498	genome.wustl.edu	37	chr19	5941824	5941824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccttctccgccttcaGgactggagccgccagctgac	9	17	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5941824G>A	ENST00000340578.6	-	4	362	c.305C>T	c.(304-306)cCt>cTt	p.P102L	RANBP3_ENST00000034275.8_Missense_Mutation_p.P34L|RANBP3_ENST00000591092.1_Missense_Mutation_p.P34L|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000439268.2_Missense_Mutation_p.P102L|RANBP3_ENST00000541471.1_Intron	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	102					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCCGCCTTCAGGACTGGAGCC	0.527																																																	0								ENSG00000031823						65	68	67					19																	5941824		2007	4191	6198	RANBP3	SO:0001583	missense	0			-	HGNC	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		ENST00000340578.6:c.305C>T	19.37:g.5941824G>A	ENSP00000341483:p.Pro102Leu	Somatic	0	32	0		0.52429534266604	19	20.83	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP							pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.P102L	ENST00000340578.6	37	c.305	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603435	0.87157	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807	T;T;T	0.37752	1.18;1.18;2.24	5.2	5.2	0.72013	.	0.170905	0.51477	D	0.000085	T	0.42268	0.1195	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.61697	0.982;0.99;0.99;0.982	P;P;P;P	0.61592	0.723;0.857;0.891;0.781	T	0.15350	-1.0440	10	0.26408	T	0.33	-16.3768	16.2358	0.82375	0.0:0.0:1.0:0.0	.	34;34;102;102	B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;RANB3_HUMAN	L	102;102;34;33	ENSP00000341483:P102L;ENSP00000404837:P102L;ENSP00000034275:P34L	ENSP00000034275:P34L	P	-	2	0	RANBP3	5892824	1.000000	0.71417	0.983000	0.44433	0.935000	0.57460	8.218000	0.89768	2.429000	0.82318	0.655000	0.94253	CCT	-	NULL		0.527	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	protein_coding	OTTHUMT00000452304.1	G	NM_007322	-		5941824	-1	no_errors	ENST00000340578	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5941824	G	A	5941824	3	1	196	1	0	0	0	0	1	0	0	0	13037	1000	35	2	1454	2	RANBP3	19	5941824	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	207921	5941824	53187159	1974	15246											
ACSBG2	81616	genome.wustl.edu	37	chr19	6151750	6151750	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtttccacggagttggtatCctggggtttaactctgcaga	12	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6151750C>T	ENST00000586696.1	+	4	606	c.330C>T	c.(328-330)atC>atT	p.I110I	ACSBG2_ENST00000252669.5_Silent_p.I110I|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000588304.1_Silent_p.I60I|ACSBG2_ENST00000591403.1_Silent_p.I110I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	110					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTTGGTATCCTGGGGTTTA	0.463																																																	0								ENSG00000130377						159	126	137					19																	6151750		2203	4300	6503	ACSBG2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.330C>T	19.37:g.6151750C>T		Somatic	0	89	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	65	27.78	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP							pfam_AMP-dep_Synth/Lig	p.I110	ENST00000586696.1	37	c.330	CCDS12159.1	19																																																																																			-	pfam_AMP-dep_Synth/Lig		0.463	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	protein_coding	OTTHUMT00000452898.1	C	NM_030924	-		6151750	1	no_errors	ENST00000252669	ensembl	human	known	74_37	silent	SNP	1.000	T	T	6151750	C	T	6151750	2	4	196	1	0	0	0	0	0	0	0	1	174	845	30	2		2	ACSBG2	19	6151750	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	209926	6151750	52977233	1975	15247											
SLC25A41	284427	genome.wustl.edu	37	chr19	6433609	6433609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggcggaggttggggGggaggcggggctttgatgag	26	3	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6433609G>A	ENST00000321510.6	-	1	164	c.96C>T	c.(94-96)ccC>ccT	p.P32P	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						gaggttgggggggaggcgggg	0.577																																																	0								ENSG00000181240						47	46	46					19																	6433609		1887	4100	5987	SLC25A41	SO:0001819	synonymous_variant	0			-	HGNC	AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"Solute carriers"	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.96C>T	19.37:g.6433609G>A		Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	35	52.05		Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P32	ENST00000321510.6	37	c.96	CCDS45937.1	19																																																																																			-	NULL		0.577	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	protein_coding	OTTHUMT00000462222.1	G	NM_173637	-		6433609	-1	no_errors	ENST00000321510	ensembl	human	known	74_37	silent	SNP	0.000	A	A	6433609	G	A	6433609	2	1	196	1	0	0	0	0	0	0	0	1	14514	1219	43	2		2	SLC25A41	19	6433609	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	281859	6433609	52695374	1976	15248											
C3	718	genome.wustl.edu	37	chr19	6693028	6693028	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttaacagccccgcagagGacttgggagtcgatggcgat	13	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6693028G>A	ENST00000245907.6	-	26	3389	c.3297C>T	c.(3295-3297)gtC>gtT	p.V1099V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1099					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)	CCCCGCAGAGGACTTGGGAGT	0.572																																																	0								ENSG00000125730						112	115	114					19																	6693028		2203	4300	6503	C3	SO:0001819	synonymous_variant	0			-	HGNC	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.3297C>T	19.37:g.6693028G>A		Somatic	0	53	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	35.29	A7E236	Silent	SNP							pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.V1099	ENST00000245907.6	37	c.3297	CCDS32883.1	19																																																																																			-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	G	NM_000064	-		6693028	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	SNP	0.991	A	A	6693028	G	A	6693028	2	1	196	1	0	0	0	0	0	0	0	1	2206	1161	41	2		2	C3	19	6693028	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	259419	6693028	52435955	1977	15249											
C3	718	genome.wustl.edu	37	chr19	6697788	6697788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattactgtgacctcgaaggGgtctgccacacagatccctg	10	13	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6697788G>A	ENST00000245907.6	-	20	2550	c.2458C>T	c.(2458-2460)Ccc>Tcc	p.P820S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	820					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)	ACCTCGAAGGGGTCTGCCACA	0.567																																																	0								ENSG00000125730						37	34	35					19																	6697788		2203	4300	6503	C3	SO:0001583	missense	0			-	HGNC	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.2458C>T	19.37:g.6697788G>A	ENSP00000245907:p.Pro820Ser	Somatic	0	43	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	A7E236	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.P820S	ENST00000245907.6	37	c.2458	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763631	0.49574	.	.	ENSG00000125730	ENST00000245907	T	0.27402	1.67	5.96	5.96	0.96718	Alpha-2-macroglobulin (1);	0.221668	0.47455	D	0.000222	T	0.60843	0.2300	M	0.81112	2.525	0.45490	D	0.998455	D	0.89917	1.0	D	0.97110	1.0	T	0.61053	-0.7140	10	0.56958	D	0.05	.	19.1907	0.93664	0.0:0.0:1.0:0.0	.	820	P01024	CO3_HUMAN	S	820	ENSP00000245907:P820S	ENSP00000245907:P820S	P	-	1	0	C3	6648788	1.000000	0.71417	0.989000	0.46669	0.032000	0.12392	2.458000	0.45014	2.831000	0.97527	0.650000	0.86243	CCC	-	pfam_Macroglobln_a2		0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	G	NM_000064	-		6697788	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6697788	G	A	6697788	3	1	196	1	0	0	0	0	1	0	0	0	2206	1232	43	2	2621	2	C3	19	6697788	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4760	6697788	52431195	1978	15250											
VAV1	7409	genome.wustl.edu	37	chr19	6850689	6850689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctggttccagatataacgTcgaggtcaagcacattaaaa	8	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6850689T>G	ENST00000602142.1	+	24	2220	c.2138T>G	c.(2137-2139)gTc>gGc	p.V713G	VAV1_ENST00000596764.1_Missense_Mutation_p.V681G|VAV1_ENST00000539284.1_Missense_Mutation_p.V616G|VAV1_ENST00000304076.2_Missense_Mutation_p.V691G|VAV1_ENST00000599806.1_Missense_Mutation_p.V658G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	713	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGATATAACGTCGAGGTCAAG	0.542																																																	0								ENSG00000141968						88	79	82					19																	6850689		2203	4300	6503	VAV1	SO:0001583	missense	0			-	HGNC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2138T>G	19.37:g.6850689T>G	ENSP00000472929:p.Val713Gly	Somatic	0	34	0		0.52429534266604	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	37.50	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.V713G	ENST00000602142.1	37	c.2138	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	7.628	0.678226	0.14841	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.58940	0.3	3.92	3.92	0.45320	SH2 motif (4);	0.287844	0.32769	N	0.005680	T	0.20536	0.0494	N	0.00289	-1.7	0.51767	D	0.999937	B;B;B;B	0.32188	0.002;0.359;0.0;0.01	B;B;B;B	0.37047	0.003;0.24;0.009;0.05	T	0.22941	-1.0202	10	0.10377	T	0.69	.	9.3587	0.38182	0.0:0.0:0.0:1.0	.	616;713;658;713	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	G	713;616	ENSP00000443242:V616G	ENSP00000302269:V713G	V	+	2	0	VAV1	6801689	0.999000	0.42202	0.980000	0.43619	0.867000	0.49689	3.216000	0.51176	1.780000	0.52325	0.459000	0.35465	GTC	-	pfam_SH2,smart_SH2,pfscan_SH2		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	protein_coding	OTTHUMT00000458475.1	T		-		6850689	1	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	SNP	0.954	G	G	6850689	T	G	6850689	3	3	196	1	0	0	0	0	1	0	0	0	17138	1667	58	5	2232	5	VAV1	19	6850689	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	152901	6850689	52278294	1979	15251											
TIMM44	10469	genome.wustl.edu	37	chr19	8006055	8006055	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtaggttgtggctggaaaGaaattggattccactgccga	15	6	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8006055G>A	ENST00000270538.3	-	2	341	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	25					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGCTGGAAAGAAATTGGATT	0.547																																																	0								ENSG00000104980						59	68	65					19																	8006055		2203	4300	6503	TIMM44	SO:0001583	missense	0			-	HGNC	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.73C>T	19.37:g.8006055G>A	ENSP00000270538:p.Leu25Phe	Somatic	0	111	0		0.52429534266604	18	18.18	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	103	26.95	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP							pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44	p.L25F	ENST00000270538.3	37	c.73	CCDS12192.1	19	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185407	0.09495	.	.	ENSG00000104980	ENST00000270538	T	0.78816	-1.21	5.0	3.97	0.46021	.	0.401874	0.27371	N	0.019674	T	0.65165	0.2665	L	0.31926	0.97	0.29220	N	0.874013	B	0.10296	0.003	B	0.10450	0.005	T	0.56974	-0.7890	10	0.29301	T	0.29	-12.0562	9.403	0.38444	0.0963:0.0:0.9037:0.0	.	25	O43615	TIM44_HUMAN	F	25	ENSP00000270538:L25F	ENSP00000270538:L25F	L	-	1	0	TIMM44	7912055	0.963000	0.33076	0.332000	0.25469	0.018000	0.09664	1.940000	0.40223	1.330000	0.45394	-0.137000	0.14449	CTT	-	pirsf_Tim44		0.547	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	protein_coding	OTTHUMT00000461596.3	G		-		8006055	-1	no_errors	ENST00000270538	ensembl	human	known	74_37	missense	SNP	0.518	A	A	8006055	G	A	8006055	3	1	196	1	0	0	0	0	1	0	0	0	15919	942	33	2	1333	2	TIMM44	19	8006055	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1155366	8006055	51122928	1980	15252											
PRAM1	84106	genome.wustl.edu	37	chr19	8564148	8564148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatgcgccggatttgggttCggaggggggtctggcggggt	22	6	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8564148C>T	ENST00000423345.4	-	2	1064	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E182K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	230	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GATTTGGGTTCGGAGGGGGGT	0.677																																																	0								ENSG00000133246						15	16	16					19																	8564148		1908	4102	6010	PRAM1	SO:0001583	missense	0			-	HGNC	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.544G>A	19.37:g.8564148C>T	ENSP00000408342:p.Glu182Lys	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	39	46.58	Q8N6W7	Missense_Mutation	SNP							superfamily_SH3_domain	p.E182K	ENST00000423345.4	37	c.544	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198961	0.38806	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.19105	2.17;2.18	3.5	1.19	0.21007	.	2.287840	0.02302	N	0.071245	T	0.19167	0.0460	N	0.24115	0.695	0.09310	N	1	P;D	0.56968	0.912;0.978	B;P	0.44597	0.374;0.454	T	0.34054	-0.9844	10	0.44086	T	0.13	.	9.5416	0.39255	0.0:0.58:0.42:0.0	.	182;230	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	K	182	ENSP00000255612:E182K;ENSP00000408342:E182K	ENSP00000255612:E182K	E	-	1	0	PRAM1	8470148	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.002000	0.03686	0.407000	0.25591	0.591000	0.81541	GAA	-	NULL		0.677	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	protein_coding	OTTHUMT00000397040.3	C	NM_032152	-		8564148	-1	no_errors	ENST00000423345	ensembl	human	known	74_37	missense	SNP	0.001	T	T	8564148	C	T	8564148	3	4	196	1	0	0	0	0	1	0	0	0	12428	893	31	1	1501	1	PRAM1	19	8564148	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	558093	8564148	50564835	1981	15253											
MYO1F	4542	genome.wustl.edu	37	chr19	8586453	8586453	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggaaaaggccctcctGgccgtgaagccggcccttcc	12	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8586453G>A	ENST00000338257.8	-	28	3523	c.3256C>T	c.(3256-3258)Cag>Tag	p.Q1086*		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1086	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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						AGGCCCTCCTGGCCGTGAAGC	0.627																																																	0								ENSG00000142347						39	45	43					19																	8586453		1902	4123	6025	MYO1F	SO:0001587	stop_gained	0			-	HGNC	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.3256C>T	19.37:g.8586453G>A	ENSP00000344871:p.Gln1086*	Somatic	0	89	0		0.52429534266604	120	1.64	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	115	23.33	Q8WWN7	Nonsense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Q1086*	ENST00000338257.8	37	c.3256	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.053554	0.98629	.	.	ENSG00000142347	ENST00000338257	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999948	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3225	0.49430	0.0:0.0:0.7082:0.2918	.	.	.	.	X	1086	.	ENSP00000344871:Q1086X	Q	-	1	0	MYO1F	8492453	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.718000	0.61930	2.339000	0.79563	0.561000	0.74099	CAG	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	G		-		8586453	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	8586453	G	A	8586453	4	1	196	1	0	0	0	0	0	1	0	0	10075	1357	47	2	44	2	MYO1F	19	8586453	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	22305	8586453	50542530	1982	15254											
MYO1F	4542	genome.wustl.edu	37	chr19	8601415	8601415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgaactggcggcggtaGgcgaagccggctctgcgcac	17	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8601415G>A	ENST00000338257.8	-	18	2133	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	622	Myosin motor.				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)			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						GGCGGCGGTAGGCGAAGCCGG	0.647																																																	0								ENSG00000142347						52	64	60					19																	8601415		2018	4174	6192	MYO1F	SO:0001819	synonymous_variant	0			-	HGNC	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.1866C>T	19.37:g.8601415G>A		Somatic	0	47	0		0.52429534266604	38	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	40	42.86	Q8WWN7	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.A622	ENST00000338257.8	37	c.1866	CCDS42494.1	19																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	G		-		8601415	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	silent	SNP	0.999	A	A	8601415	G	A	8601415	2	1	196	1	0	0	0	0	0	0	0	1	10075	987	35	2		2	MYO1F	19	8601415	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	14962	8601415	50527568	1983	15255											
OR2Z1	284383	genome.wustl.edu	37	chr19	8842041	8842041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccctcatcgccacctcCtacggccacgtgttgcaggc	8	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8842041C>T	ENST00000324060.2	+	1	726	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	217						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(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGCCACCTCCTACGGCCACG	0.587																																																	0								ENSG00000181733						107	89	95					19																	8842041		2203	4300	6503	OR2Z1	SO:0001819	synonymous_variant	0			-	HGNC	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.651C>T	19.37:g.8842041C>T		Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	B9EH50|Q6IFK0|Q96R25	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217	ENST00000324060.2	37	c.651	CCDS32895.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.587	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	protein_coding	OTTHUMT00000459954.1	C		-		8842041	1	no_errors	ENST00000324060	ensembl	human	known	74_37	silent	SNP	1.000	T	T	8842041	C	T	8842041	2	4	196	1	0	0	0	0	0	0	0	1	11038	668	24	2		2	OR2Z1	19	8842041	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	240626	8842041	50286942	1984	15256											
MUC16	94025	genome.wustl.edu	37	chr19	9060452	9060452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgtgggggtcagggtGgatgttgactccatctcaat	15	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9060452G>A	ENST00000397910.4	-	3	27197	c.26994C>T	c.(26992-26994)tcC>tcT	p.S8998S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9000	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						GGGTCAGGGTGGATGTTGACT	0.502																																																	0								ENSG00000181143						153	146	149					19																	9060452		2089	4214	6303	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.26994C>T	19.37:g.9060452G>A		Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S8998	ENST00000397910.4	37	c.26994	CCDS54212.1	19																																																																																			-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9060452	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	A	A	9060452	G	A	9060452	2	1	196	1	0	0	0	0	0	0	0	1	9975	1335	47	2		2	MUC16	19	9060452	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	218411	9060452	50068531	1985	15257											
MUC16	94025	genome.wustl.edu	37	chr19	9061119	9061119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcctgtcgtggtgaggGgagtagaaattctagtgatg	15	5	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9061119G>A	ENST00000397910.4	-	3	26530	c.26327C>T	c.(26326-26328)cCc>cTc	p.P8776L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8778	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						CGTGGTGAGGGGAGTAGAAAT	0.498																																																	0								ENSG00000181143						152	136	141					19																	9061119		1967	4158	6125	MUC16	SO:0001583	missense	0			-	HGNC	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.26327C>T	19.37:g.9061119G>A	ENSP00000381008:p.Pro8776Leu	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P8776L	ENST00000397910.4	37	c.26327	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	4.982	0.182368	0.09495	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	2.28	-1.76	0.08006	.	.	.	.	.	T	0.02193	0.0068	N	0.19112	0.55	.	.	.	B	0.31174	0.311	B	0.27076	0.076	T	0.43766	-0.9371	8	0.87932	D	0	.	2.4683	0.04558	0.3013:0.0:0.4683:0.2305	.	8776	B5ME49	.	L	8776	ENSP00000381008:P8776L	ENSP00000381008:P8776L	P	-	2	0	MUC16	8922119	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.776000	0.04674	-0.266000	0.09339	0.298000	0.19748	CCC	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9061119	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9061119	G	A	9061119	3	1	196	1	0	0	0	0	1	0	0	0	9975	1232	43	2	17524	2	MUC16	19	9061119	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	667	9061119	50067864	1986	15258											
MUC16	94025	genome.wustl.edu	37	chr19	9063581	9063581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctcatccatgatacatcCtcaggacccctcctcataag	7	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9063581C>A	ENST00000397910.4	-	3	24068	c.23865G>T	c.(23863-23865)gaG>gaT	p.E7955D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7957	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						ATGATACATCCTCAGGACCCC	0.463																																																	0								ENSG00000181143						130	122	125					19																	9063581		1977	4159	6136	MUC16	SO:0001583	missense	0			-	HGNC	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.23865G>T	19.37:g.9063581C>A	ENSP00000381008:p.Glu7955Asp	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	43	35.82	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E7955D	ENST00000397910.4	37	c.23865	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	4.766	0.142456	0.09083	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	2.39	0.178	0.15058	.	.	.	.	.	T	0.15869	0.0382	L	0.38175	1.15	.	.	.	P	0.52061	0.95	B	0.39258	0.295	T	0.20907	-1.0261	8	0.87932	D	0	.	4.4817	0.11771	0.0:0.6569:0.0:0.3431	.	7955	B5ME49	.	D	7955	ENSP00000381008:E7955D	ENSP00000381008:E7955D	E	-	3	2	MUC16	8924581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.316000	0.02710	0.119000	0.18210	-0.490000	0.04691	GAG	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9063581	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9063581	C	A	9063581	3	1	196	1	0	0	0	0	1	0	0	0	9975	680	24	3	19986	3	MUC16	19	9063581	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2462	9063581	50065402	1987	15259											
MUC16	94025	genome.wustl.edu	37	chr19	9068865	9068865	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgacactggttgtttctGaatctacaaaatcctgagtt	7	8	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9068865G>A	ENST00000397910.4	-	3	18784	c.18581C>T	c.(18580-18582)tCa>tTa	p.S6194L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6196	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						GGTTGTTTCTGAATCTACAAA	0.483																																																	0								ENSG00000181143						96	99	98					19																	9068865		2074	4208	6282	MUC16	SO:0001583	missense	0			-	HGNC	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.18581C>T	19.37:g.9068865G>A	ENSP00000381008:p.Ser6194Leu	Somatic	0	81	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	49	43.18	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6194L	ENST00000397910.4	37	c.18581	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.925	0.171783	0.09391	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	0.899	0.899	0.19271	.	.	.	.	.	T	0.37972	0.1023	L	0.43152	1.355	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.46925	-0.9156	8	0.87932	D	0	.	5.1134	0.14821	0.0:0.0:1.0:0.0	.	6194	B5ME49	.	L	6194	ENSP00000381008:S6194L	ENSP00000381008:S6194L	S	-	2	0	MUC16	8929865	0.078000	0.21339	0.003000	0.11579	0.002000	0.02628	1.981000	0.40628	0.786000	0.33708	0.385000	0.25706	TCA	-	NULL		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9068865	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.009	A	A	9068865	G	A	9068865	3	1	196	1	0	0	0	0	1	0	0	0	9975	1294	45	2	25270	2	MUC16	19	9068865	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5284	9068865	50060118	1988	15260											
MUC16	94025	genome.wustl.edu	37	chr19	9070715	9070715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcccagggaaggataccCtgtgatgtagccccaggagt	14	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9070715C>T	ENST00000397910.4	-	3	16934	c.16731G>A	c.(16729-16731)caG>caA	p.Q5577Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5579	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						GAAGGATACCCTGTGATGTAG	0.512																																																	0								ENSG00000181143						222	206	211					19																	9070715		2020	4178	6198	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.16731G>A	19.37:g.9070715C>T		Somatic	0	66	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	40	49.38	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.Q5577	ENST00000397910.4	37	c.16731	CCDS54212.1	19																																																																																			-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9070715	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	T	T	9070715	C	T	9070715	2	4	196	1	0	0	0	0	0	0	0	1	9975	680	24	2		2	MUC16	19	9070715	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1850	9070715	50058268	1989	15261											
MUC16	94025	genome.wustl.edu	37	chr19	9072715	9072715	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaggaacagtgcttgtctCtgtggacgaggtgatctcct	13	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9072715C>T	ENST00000397910.4	-	3	14934	c.14731G>A	c.(14731-14733)Gag>Aag	p.E4911K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4913	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						GTGCTTGTCTCTGTGGACGAG	0.507																																																	0								ENSG00000181143						216	205	209					19																	9072715		2110	4221	6331	MUC16	SO:0001583	missense	0			-	HGNC	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.14731G>A	19.37:g.9072715C>T	ENSP00000381008:p.Glu4911Lys	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	42	40.00	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E4911K	ENST00000397910.4	37	c.14731	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	8.315	0.822975	0.16678	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.57	-1.16	0.09678	.	.	.	.	.	T	0.02571	0.0078	L	0.43923	1.385	.	.	.	B	0.32245	0.361	B	0.31812	0.136	T	0.43393	-0.9394	8	0.87932	D	0	.	1.1656	0.01814	0.2292:0.403:0.2245:0.1432	.	4911	B5ME49	.	K	4911	ENSP00000381008:E4911K	ENSP00000381008:E4911K	E	-	1	0	MUC16	8933715	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.014000	0.12656	-0.139000	0.11414	0.298000	0.19748	GAG	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9072715	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	9072715	C	T	9072715	3	4	196	1	0	0	0	0	1	0	0	0	9975	922	32	2	29120	2	MUC16	19	9072715	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2000	9072715	50056268	1990	15262											
MUC16	94025	genome.wustl.edu	37	chr19	9076121	9076121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctatagagaagggcaaCtgtgaggtagctgggctgat	15	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9076121C>T	ENST00000397910.4	-	3	11528	c.11325G>A	c.(11323-11325)caG>caA	p.Q3775Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3776	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						AGAAGGGCAACTGTGAGGTAG	0.517																																																	0								ENSG00000181143						148	145	146					19																	9076121		2059	4204	6263	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.11325G>A	19.37:g.9076121C>T		Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.Q3775	ENST00000397910.4	37	c.11325	CCDS54212.1	19																																																																																			-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690	-		9076121	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	T	T	9076121	C	T	9076121	2	4	196	1	0	0	0	0	0	0	0	1	9975	564	20	2		2	MUC16	19	9076121	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3406	9076121	50052862	1991	15263											
COL5A3	50509	genome.wustl.edu	37	chr19	10088310	10088310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccaacggggccttcgCtgccactttggccaggaagt	14	13	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10088310C>T	ENST00000264828.3	-	42	3171	c.3086G>A	c.(3085-3087)aGc>aAc	p.S1029N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1029	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)			GGGGCCTTCGCTGCCACTTTG	0.622																																																	0								ENSG00000080573						28	28	28					19																	10088310		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.3086G>A	19.37:g.10088310C>T	ENSP00000264828:p.Ser1029Asn	Somatic	0	136	0		0.52429534266604	89	59.55	131	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	99	38.89	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.S1029N	ENST00000264828.3	37	c.3086	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828719	0.32329	.	.	ENSG00000080573	ENST00000264828	D	0.94280	-3.39	4.84	1.53	0.23141	.	1.679190	0.04598	N	0.398038	D	0.84777	0.5547	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72903	-0.4151	10	0.28530	T	0.3	.	6.5768	0.22571	0.0:0.6821:0.1483:0.1696	.	1029	P25940	CO5A3_HUMAN	N	1029	ENSP00000264828:S1029N	ENSP00000264828:S1029N	S	-	2	0	COL5A3	9949310	0.000000	0.05858	0.934000	0.37439	0.143000	0.21401	0.567000	0.23608	0.253000	0.21552	-0.137000	0.14449	AGC	-	NULL		0.622	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719	-		10088310	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.024	T	T	10088310	C	T	10088310	3	4	196	1	0	0	0	0	1	0	0	0	3700	797	28	2	2255	2	COL5A3	19	10088310	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1012189	10088310	49040673	1992	15264											
COL5A3	50509	genome.wustl.edu	37	chr19	10103504	10103504	+	Splice_Site	SNP	G	G	A													gagagccagtgacactcaccGggcgacccgtggggccagga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10103504G>A	ENST00000264828.3	-	21	1932	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	616	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)			GACACTCACCGGGCGACCCGT	0.592																																																	0								ENSG00000080573						54	56	55					19																	10103504		2203	4300	6503	COL5A3	SO:0001630	splice_region_variant	0			-	HGNC	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.1848+1C>T	19.37:g.10103504G>A		Somatic	0	20	0		0.52429534266604	56	17.39	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P616L	ENST00000264828.3	37	c.1847	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369221	0.42003	.	.	ENSG00000080573	ENST00000264828	D	0.96685	-4.09	4.08	3.05	0.35203	.	0.161581	0.41396	D	0.000896	D	0.92430	0.7597	M	0.62088	1.915	0.52501	D	0.999951	P	0.47106	0.89	B	0.30716	0.119	D	0.90839	0.4722	10	0.72032	D	0.01	.	9.4934	0.38974	0.1056:0.0:0.8944:0.0	.	616	P25940	CO5A3_HUMAN	L	616	ENSP00000264828:P616L	ENSP00000264828:P616L	P	-	2	0	COL5A3	9964504	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.541000	0.36126	1.077000	0.40990	0.561000	0.74099	CCG	-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-	Missense_Mutation	10103504	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10103504	G	A	10103504	5	1	196	1	0	0	0	0	0	0	1	0	3700	1130	39	1	3578	1	COL5A3	19	10103504	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	15194	10103504	49025479	1993	15265	357	2									
COL5A3	50509	genome.wustl.edu	37	chr19	10103505	10103505	+	Missense_Mutation	SNP	G	G	A													agagccagtgacactcaccgGgcgacccgtggggccaggag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10103505G>A	ENST00000264828.3	-	21	1931	c.1846C>T	c.(1846-1848)Ccg>Tcg	p.P616S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	616	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)			ACACTCACCGGGCGACCCGTG	0.592																																																	0								ENSG00000080573						54	55	55					19																	10103505		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	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.1846C>T	19.37:g.10103505G>A	ENSP00000264828:p.Pro616Ser	Somatic	0	20	0		0.52429534266604	56	20.83	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	Q9NZQ6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P616S	ENST00000264828.3	37	c.1846	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709026	0.48517	.	.	ENSG00000080573	ENST00000264828	D	0.96587	-4.06	4.08	4.08	0.47627	.	0.161581	0.41396	D	0.000896	D	0.96021	0.8704	L	0.45744	1.44	0.43657	D	0.996074	D	0.62365	0.991	P	0.55667	0.781	D	0.95914	0.8925	10	0.56958	D	0.05	.	14.1766	0.65546	0.0:0.0:1.0:0.0	.	616	P25940	CO5A3_HUMAN	S	616	ENSP00000264828:P616S	ENSP00000264828:P616S	P	-	1	0	COL5A3	9964505	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	7.759000	0.85235	2.288000	0.76882	0.561000	0.74099	CCG	-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10103505	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10103505	G	A	10103505	3	1	196	1	0	0	0	0	1	0	0	0	3700	1232	43	2	3579	2	COL5A3	19	10103505	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	10103505	49025478	1994	15266	357	2									
TYK2	7297	genome.wustl.edu	37	chr19	10467269	10467269	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagccgggtgaggtcAcgcaggatggtgcggaatga	19	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10467269A>T	ENST00000525621.1	-	18	3073	c.2592T>A	c.(2590-2592)cgT>cgA	p.R864R	TYK2_ENST00000264818.6_Silent_p.R864R|TYK2_ENST00000524462.1_Silent_p.R679R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	864	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGGTGAGGTCACGCAGGATGG	0.652																																																	0								ENSG00000105397						116	82	94					19																	10467269		2203	4300	6503	TYK2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2592T>A	19.37:g.10467269A>T		Somatic	0	58	0		0.52429534266604	91	22.22	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	Q6QB10|Q96CH0	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.R864	ENST00000525621.1	37	c.2592	CCDS12236.1	19																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom		0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	protein_coding	OTTHUMT00000389443.1	A		-		10467269	-1	no_errors	ENST00000264818	ensembl	human	known	74_37	silent	SNP	0.678	T	T	10467269	A	T	10467269	2	4	196	1	0	0	0	0	0	0	0	1	16817	146	6	5		5	TYK2	19	10467269	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	363764	10467269	48661714	1995	15267											
PDE4A	5141	genome.wustl.edu	37	chr19	10577614	10577614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggagacctgggcggacCttgtccacccagatgcccag	14	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10577614C>T	ENST00000352831.6	+	15	2088	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	PDE4A_ENST00000380702.2_Missense_Mutation_p.L638F|PDE4A_ENST00000592685.1_Missense_Mutation_p.L638F|PDE4A_ENST00000344979.3_Missense_Mutation_p.L421F|PDE4A_ENST00000293683.5_Missense_Mutation_p.L634F|PDE4A_ENST00000440014.2_Missense_Mutation_p.L599F	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	660	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGGGCGGACCTTGTCCACCC	0.572																																																	0								ENSG00000065989						56	61	59					19																	10577614		2203	4300	6503	PDE4A	SO:0001583	missense	0			-	HGNC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1978C>T	19.37:g.10577614C>T	ENSP00000270474:p.Leu660Phe	Somatic	0	48	0		0.52429534266604	18	57.14	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L660F	ENST00000352831.6	37	c.1978	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	c	19.29	3.798417	0.70567	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	4.87	2.71	0.32032	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.134849	0.51477	D	0.000092	D	0.86239	0.5885	L	0.53729	1.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.997	D;D;D;D	0.97110	1.0;0.998;0.988;0.989	T	0.82305	-0.0523	10	0.32370	T	0.25	.	8.6013	0.33747	0.0:0.8048:0.0:0.1952	.	421;599;634;660	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	F	102;638;660;634;599;421	ENSP00000370078:L638F;ENSP00000270474:L660F;ENSP00000293683:L634F;ENSP00000394754:L599F;ENSP00000341007:L421F	ENSP00000293683:L634F	L	+	1	0	PDE4A	10438614	1.000000	0.71417	0.955000	0.39395	0.739000	0.42172	3.344000	0.52174	0.553000	0.29044	0.550000	0.68814	CTT	-	pfam_PDEase_catalytic_dom		0.572	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	protein_coding	OTTHUMT00000451244.1	C		-		10577614	1	no_errors	ENST00000352831	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10577614	C	T	10577614	3	4	196	1	0	0	0	0	1	0	0	0	11641	681	24	2	2493	2	PDE4A	19	10577614	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	110345	10577614	48551369	1996	15268											
ILF3	3609	genome.wustl.edu	37	chr19	10798042	10798042	+	Missense_Mutation	SNP	G	G	A													gtcagttctacagcaacggaGggcattctgggaatgccagt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10798042G>A	ENST00000590261.1	+	17	2080	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	ILF3_ENST00000449870.1_Missense_Mutation_p.G698R|ILF3_ENST00000588657.1_Missense_Mutation_p.G698R|ILF3_ENST00000318511.3_Missense_Mutation_p.G694R			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	694	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGCAACGGAGGGCATTCTGG	0.652																																																	0								ENSG00000129351						13	14	14					19																	10798042		2134	4113	6247	ILF3	SO:0001583	missense	0			-	HGNC	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2080G>A	19.37:g.10798042G>A	ENSP00000468156:p.Gly694Arg	Somatic	0	56	0		0.52429534266604	41	26.32	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP							pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.G698R	ENST00000590261.1	37	c.2092	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749585	0.69533	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.19669	2.14;2.13	4.92	4.92	0.64577	.	0.256692	0.36482	N	0.002580	T	0.36110	0.0955	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.16424	-1.0403	10	0.87932	D	0	.	17.0382	0.86482	0.0:0.0:1.0:0.0	.	698;694	G5E9M5;Q12906	.;ILF3_HUMAN	R	698;694	ENSP00000404121:G698R;ENSP00000315205:G694R	ENSP00000315205:G694R	G	+	1	0	ILF3	10659042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.152000	0.71812	2.545000	0.85829	0.655000	0.94253	GGG	-	NULL		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	protein_coding	OTTHUMT00000452074.1	G		-		10798042	1	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10798042	G	A	10798042	3	1	196	1	0	0	0	0	1	0	0	0	7714	1000	35	2	2230	2	ILF3	19	10798042	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	220428	10798042	48330941	1997	15269	358	2									
ILF3	3609	genome.wustl.edu	37	chr19	10798043	10798043	+	Missense_Mutation	SNP	G	G	A													tcagttctacagcaacggagGgcattctgggaatgccagtg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10798043G>A	ENST00000590261.1	+	17	2081	c.2081G>A	c.(2080-2082)gGg>gAg	p.G694E	ILF3_ENST00000449870.1_Missense_Mutation_p.G698E|ILF3_ENST00000588657.1_Missense_Mutation_p.G698E|ILF3_ENST00000318511.3_Missense_Mutation_p.G694E			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	694	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCAACGGAGGGCATTCTGGG	0.652																																																	0								ENSG00000129351						13	14	14					19																	10798043		2133	4115	6248	ILF3	SO:0001583	missense	0			-	HGNC	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2081G>A	19.37:g.10798043G>A	ENSP00000468156:p.Gly694Glu	Somatic	0	55	0		0.52429534266604	34	29.17	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP							pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.G698E	ENST00000590261.1	37	c.2093	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680509	0.68042	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.19250	2.17;2.16	4.92	4.92	0.64577	.	0.256692	0.36482	N	0.002580	T	0.36054	0.0953	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.14952	-1.0454	10	0.72032	D	0.01	.	17.0382	0.86482	0.0:0.0:1.0:0.0	.	698;694	G5E9M5;Q12906	.;ILF3_HUMAN	E	698;694	ENSP00000404121:G698E;ENSP00000315205:G694E	ENSP00000315205:G694E	G	+	2	0	ILF3	10659043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.152000	0.71812	2.545000	0.85829	0.655000	0.94253	GGG	-	NULL		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	protein_coding	OTTHUMT00000452074.1	G		-		10798043	1	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10798043	G	A	10798043	3	1	196	1	0	0	0	0	1	0	0	0	7714	1232	43	2	2231	2	ILF3	19	10798043	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	10798043	48330940	1998	15270	358	2									
DOCK6	57572	genome.wustl.edu	37	chr19	11319661	11319661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactcagccacgagggcggCcgcgtgcaccatgcactggg	15	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:11319661C>T	ENST00000294618.7	-	38	4881	c.4870G>A	c.(4870-4872)Gcc>Acc	p.A1624T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.A963T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1624	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACGAGGGCGGCCGCGTGCACC	0.701																																																	0								ENSG00000130158						16	20	18					19																	11319661		2035	4166	6201	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4870G>A	19.37:g.11319661C>T	ENSP00000294618:p.Ala1624Thr	Somatic	0	28	0		0.52429534266604	18	37.93	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	16	54.29	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N	p.A1624T	ENST00000294618.7	37	c.4870	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	c	23.3	4.404473	0.83230	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.32988	2.17;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.83312	2.635	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.989	P;P;P	0.59825	0.829;0.864;0.829	T	0.58601	-0.7608	10	0.41790	T	0.15	-23.8874	17.4049	0.87470	0.0:1.0:0.0:0.0	.	963;1624;963	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	T	1624;963	ENSP00000294618:A1624T;ENSP00000321556:A963T	ENSP00000294618:A1624T	A	-	1	0	DOCK6	11180661	1.000000	0.71417	0.955000	0.39395	0.063000	0.16089	7.608000	0.82898	2.490000	0.84030	0.651000	0.88453	GCC	-	NULL		0.701	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	C	NM_020812	-		11319661	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11319661	C	T	11319661	3	4	196	1	0	0	0	0	1	0	0	0	4693	739	26	2	1317	2	DOCK6	19	11319661	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	521618	11319661	47809322	1999	15271											
ZNF491	126069	genome.wustl.edu	37	chr19	11917961	11917961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacttgttccatatataTtagaatacatgaaagaattc	4	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:11917961T>G	ENST00000323169.5	+	3	1524	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TCCATATATATTAGAATACAT	0.388																																																	0								ENSG00000177599						39	44	43					19																	11917961		2203	4299	6502	ZNF491	SO:0001583	missense	0			-	HGNC	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1193T>G	19.37:g.11917961T>G	ENSP00000313443:p.Ile398Ser	Somatic	0	49	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	39	43.48	Q3MJ35|Q8NAT8	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I398S	ENST00000323169.5	37	c.1193	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	t	10.58	1.390158	0.25118	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.60797	0.16	0.737	0.737	0.18314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39036	0.1063	L	0.39898	1.24	0.09310	N	1	P	0.37038	0.579	B	0.28465	0.09	T	0.35475	-0.9787	9	0.87932	D	0	.	3.6369	0.08153	0.0:0.0:0.4141:0.5858	.	398	Q8N8L2	ZN491_HUMAN	S	398;370	ENSP00000313443:I398S	ENSP00000313443:I398S	I	+	2	0	ZNF491	11778961	0.020000	0.18652	0.001000	0.08648	0.005000	0.04900	1.075000	0.30716	0.615000	0.30124	0.407000	0.27541	ATT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	protein_coding	OTTHUMT00000344518.1	T	NM_152356	-		11917961	1	no_errors	ENST00000323169	ensembl	human	known	74_37	missense	SNP	0.000	G	G	11917961	T	G	11917961	3	3	196	1	0	0	0	0	1	0	0	0	17949	1493	52	5	1195	5	ZNF491	19	11917961	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	598300	11917961	47211022	2000	15272											
ZNF700	90592	genome.wustl.edu	37	chr19	12060728	12060728	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaatgtgggaaagccttcaGatctgcctcaaaccttcaga	9	11	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12060728G>A	ENST00000254321.5	+	4	2032	c.1889G>A	c.(1888-1890)aGa>aAa	p.R630K	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.R612K|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	630					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.R630K(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AAAGCCTTCAGATCTGCCTCA	0.438																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000196757						84	83	83					19																	12060728		2203	4300	6503	ZNF700	SO:0001583	missense	0			-	HGNC	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1889G>A	19.37:g.12060728G>A	ENSP00000254321:p.Arg630Lys	Somatic	0	63	0		0.52429534266604	15	37.5	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	58	19.44	B9EGU4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R630K	ENST00000254321.5	37	c.1889	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	5.878	0.346059	0.11126	.	.	ENSG00000196757	ENST00000254321	T	0.07114	3.22	0.563	-0.585	0.11698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02420	-0.555	0.09310	N	1	P	0.43578	0.811	P	0.46796	0.527	T	0.25916	-1.0118	9	0.30854	T	0.27	.	1.8343	0.03136	0.4584:0.0:0.2649:0.2766	.	630	Q9H0M5	ZN700_HUMAN	K	630	ENSP00000254321:R630K	ENSP00000254321:R630K	R	+	2	0	ZNF700	11921728	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.676000	0.00840	-0.280000	0.09154	0.313000	0.20887	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	protein_coding	OTTHUMT00000344126.2	G	NM_144566	-		12060728	1	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12060728	G	A	12060728	3	1	196	1	0	0	0	0	1	0	0	0	18111	942	33	2	1903	2	ZNF700	19	12060728	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	142767	12060728	47068255	2001	15273											
ZNF763	284390	genome.wustl.edu	37	chr19	12087855	12087855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgagatgtttcaggaCcctgtggcctgtgaggatgt	14	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12087855C>T	ENST00000358987.3	+	2	133	c.6C>T	c.(4-6)gaC>gaT	p.D2D	ZNF763_ENST00000591944.1_Silent_p.D71D|ZNF763_ENST00000592625.1_Silent_p.D2D|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000538752.1_Silent_p.D22D|ZNF763_ENST00000590798.1_Silent_p.D22D|ZNF763_ENST00000343949.5_Silent_p.D5D			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	2					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGTTTCAGGACCCTGTGGCCT	0.517																																																	0								ENSG00000267179						115	116	116					19																	12087855		2203	4300	6503	ZNF763	SO:0001819	synonymous_variant	0			-	Uniprot_gn	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.6C>T	19.37:g.12087855C>T		Somatic	0	148	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	123	20.13	B3KRU3|B4DRE7	Missense_Mutation	SNP							NULL	p.T55I	ENST00000358987.3	37	c.164		19																																																																																			-	NULL		0.517	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	protein_coding	OTTHUMT00000344158.1	C	NM_001012753	-		12087855	1	no_errors	ENST00000591441	ensembl	human	known	74_37	missense	SNP	0.167	T	T	12087855	C	T	12087855	2	4	196	1	0	0	0	0	0	0	0	1	18144	506	18	2		2	ZNF763	19	12087855	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	27127	12087855	47041128	2002	15274											
ZNF844	284391	genome.wustl.edu	37	chr19	12186142	12186142	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagaagtcttctgggagaGagagttgatgaaaatacaga	12	5	2	6			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12186142G>A	ENST00000439326.3	+	4	382	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ZNF844_ENST00000441304.2_Missense_Mutation_p.R49K	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	69	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(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TTCTGGGAGAGAGAGTTGATG	0.323																																																	0								ENSG00000223547						57	56	56					19																	12186142		692	1591	2283	ZNF844	SO:0001819	synonymous_variant	0			-	HGNC	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.207G>A	19.37:g.12186142G>A		Somatic	0	121	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	61	39.60	Q5JPI8	Missense_Mutation	SNP							pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.R49K	ENST00000439326.3	37	c.146	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	7.021	0.558790	0.13436	.	.	ENSG00000223547	ENST00000441304	T	0.00691	5.84	1.56	0.49	0.16861	.	.	.	.	.	T	0.01029	0.0034	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48885	-0.8995	6	0.72032	D	0.01	.	4.3817	0.11297	0.1564:0.2335:0.6102:0.0	.	.	.	.	K	49	ENSP00000402097:R49K	ENSP00000402097:R49K	R	+	2	0	ZNF844	12047142	0.894000	0.30519	0.001000	0.08648	0.002000	0.02628	1.655000	0.37345	0.216000	0.20781	-0.279000	0.10071	AGA	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.323	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	protein_coding	OTTHUMT00000344086.2	G		-		12186142	1	no_errors	ENST00000441304	ensembl	human	putative	74_37	missense	SNP	0.047	A	A	12186142	G	A	12186142	2	1	196	1	0	0	0	0	0	0	0	1	18197	933	33	2		2	ZNF844	19	12186142	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	98287	12186142	46942841	2003	15275											
ZNF844	284391	genome.wustl.edu	37	chr19	12187617	12187617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagagaaaccctataaGgaatatggaaaagcattcaa	9	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12187617G>A	ENST00000439326.3	+	4	1857	c.1682G>A	c.(1681-1683)aGg>aAg	p.R561K	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	561					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AACCCTATAAGGAATATGGAA	0.363																																																	0								ENSG00000223547						70	61	63					19																	12187617		692	1591	2283	ZNF844	SO:0001583	missense	0			-	HGNC	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1682G>A	19.37:g.12187617G>A	ENSP00000392024:p.Arg561Lys	Somatic	0	41	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	27	46.00	Q5JPI8	Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R561K	ENST00000439326.3	37	c.1682	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207507	0.06180	.	.	ENSG00000223547	ENST00000439326	T	0.03580	3.88	2.35	-4.21	0.03812	.	.	.	.	.	T	0.02012	0.0063	L	0.31752	0.955	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.48692	-0.9013	9	0.02654	T	1	.	4.5168	0.11939	0.4396:0.0:0.4057:0.1548	.	561	Q08AG5	ZN844_HUMAN	K	561	ENSP00000392024:R561K	ENSP00000392024:R561K	R	+	2	0	ZNF844	12048617	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-2.624000	0.00876	-1.250000	0.02497	0.205000	0.17691	AGG	-	NULL		0.363	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	protein_coding	OTTHUMT00000344086.2	G		-		12187617	1	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12187617	G	A	12187617	3	1	196	1	0	0	0	0	1	0	0	0	18197	1000	35	2	1696	2	ZNF844	19	12187617	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1475	12187617	46941366	2004	15276											
RTBDN	83546	genome.wustl.edu	37	chr19	12936605	12936605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgggaacgccgggagGgagcttcccggccccgtcgt	18	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12936605G>A	ENST00000458671.2	-	6	757	c.605C>T	c.(604-606)cCc>cTc	p.P202L	RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000322912.5_Missense_Mutation_p.P234L|RTBDN_ENST00000589272.1_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Missense_Mutation_p.P212L	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	202						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACGCCGGGAGGGAGCTTCCCG	0.711											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132026						20	19	19					19																	12936605		2201	4294	6495	RTBDN	SO:0001583	missense	0			-	HGNC	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.605C>T	19.37:g.12936605G>A	ENSP00000416375:p.Pro202Leu	Somatic	0	57	0	683	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	71	24.47	F1T0I8|Q9BWT5	Missense_Mutation	SNP							pfam_Folate_rcpt-like	p.P234L	ENST00000458671.2	37	c.701	CCDS45994.1	19	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519113	0.27211	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.50548	0.74;0.8	3.32	-6.64	0.01801	.	2.321930	0.02307	N	0.071717	T	0.24890	0.0604	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10337	-1.0634	10	0.56958	D	0.05	.	1.2199	0.01921	0.3943:0.2696:0.2001:0.136	.	234;202	Q9BSG5-2;Q9BSG5	.;RTBDN_HUMAN	L	234;202	ENSP00000326253:P234L;ENSP00000416375:P202L	ENSP00000326253:P234L	P	-	2	0	RTBDN	12797605	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.040000	0.12104	-1.230000	0.02561	0.467000	0.42956	CCC	-	NULL		0.711	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RTBDN	protein_coding	OTTHUMT00000451513.1	G	NM_031429	-		12936605	-1	no_errors	ENST00000322912	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12936605	G	A	12936605	3	1	196	1	0	0	0	0	1	0	0	0	13725	1232	43	2	88	2	RTBDN	19	12936605	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	748988	12936605	46192378	2005	15277											
MAST1	22983	genome.wustl.edu	37	chr19	12962986	12962986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccgaaggacacgccaagGagggccaccttgtgaagacg	15	12	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12962986G>A	ENST00000251472.4	+	9	973	c.934G>A	c.(934-936)Gag>Aag	p.E312K	MAST1_ENST00000591495.1_Missense_Mutation_p.E308K	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACACGCCAAGGAGGGCCACCT	0.667																																																	0								ENSG00000105613						62	69	66					19																	12962986		2203	4300	6503	MAST1	SO:0001583	missense	0			-	HGNC	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.934G>A	19.37:g.12962986G>A	ENSP00000251472:p.Glu312Lys	Somatic	0	39	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	46.51		Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.E312K	ENST00000251472.4	37	c.934	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.734192	0.96865	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29655	1.56	5.49	5.49	0.81192	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.87682	2.9	0.58432	D	0.999993	D;P	0.71674	0.998;0.562	D;B	0.73708	0.981;0.413	T	0.66252	-0.5970	10	0.59425	D	0.04	-32.2785	17.246	0.87028	0.0:0.0:1.0:0.0	.	312;312	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	K	312	ENSP00000251472:E312K	ENSP00000251472:E312K	E	+	1	0	MAST1	12823986	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.796000	0.99103	2.765000	0.95021	0.591000	0.81541	GAG	-	pfam_MA_Ser/Thr_Kinase_dom		0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	protein_coding	OTTHUMT00000451733.2	G	NM_014975	-		12962986	1	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12962986	G	A	12962986	3	1	196	1	0	0	0	0	1	0	0	0	9326	1175	41	2	968	2	MAST1	19	12962986	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	26381	12962986	46165997	2006	15278											
RAD23A	5886	genome.wustl.edu	37	chr19	13059109	13059109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatcccccacctgccgCcagagaggacaagagcccat	9	18	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:13059109C>T	ENST00000586534.1	+	3	414	c.353C>T	c.(352-354)gCc>gTc	p.A118V	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.A118V|RAD23A_ENST00000592268.1_Missense_Mutation_p.A118V			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	118					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCACCTGCCGCCAGAGAGGAC	0.667								Nucleotide excision repair (NER)																																									0								ENSG00000179262						43	50	48					19																	13059109		2203	4300	6503	RAD23A	SO:0001583	missense	0			-	HGNC		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.353C>T	19.37:g.13059109C>T	ENSP00000467024:p.Ala118Val	Somatic	0	48	0		0.52429534266604	363	22.51	106	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP							pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.A118V	ENST00000586534.1	37	c.353	CCDS12289.1	19	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300892	0.23650	.	.	ENSG00000179262	ENST00000316856	T	0.20598	2.06	4.54	0.205	0.15204	.	0.392085	0.25411	N	0.030876	T	0.08758	0.0217	N	0.08118	0	0.41251	D	0.986713	B;B;B	0.13594	0.0;0.003;0.008	B;B;B	0.09377	0.001;0.003;0.004	T	0.19778	-1.0295	10	0.37606	T	0.19	-36.1646	6.675	0.23090	0.318:0.4214:0.2606:0.0	.	118;135;118	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	V	118	ENSP00000321365:A118V	ENSP00000321365:A118V	A	+	2	0	RAD23A	12920109	0.013000	0.17824	0.151000	0.22473	0.858000	0.48976	-0.091000	0.11146	-0.138000	0.11434	0.650000	0.86243	GCC	-	tigrfam_Rad23		0.667	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	protein_coding	OTTHUMT00000452752.1	C	NM_005053	-		13059109	1	no_errors	ENST00000586534	ensembl	human	known	74_37	missense	SNP	0.119	T	T	13059109	C	T	13059109	3	4	196	1	0	0	0	0	1	0	0	0	12990	739	26	2	363	2	RAD23A	19	13059109	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	96123	13059109	46069874	2007	15279											
CACNA1A	773	genome.wustl.edu	37	chr19	13346467	13346467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagagaagaatgcggatGgtgtaaccctgacggagaag	15	7	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:13346467G>A	ENST00000360228.5	-	32	5027	c.5028C>T	c.(5026-5028)acC>acT	p.T1676T	CACNA1A_ENST00000573710.2_Silent_p.T1677T|CACNA1A_ENST00000574822.1_5'UTR	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	1677					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)			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)	GAATGCGGATGGTGTAACCCT	0.567											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000141837						99	111	107					19																	13346467		2024	4185	6209	CACNA1A	SO:0001819	synonymous_variant	0			-	HGNC	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.5028C>T	19.37:g.13346467G>A		Somatic	0	53	0	686	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	54	39.33	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.T1676	ENST00000360228.5	37	c.5028	CCDS45998.1	19																																																																																			-	pfam_Ion_trans_dom		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	G	NM_000068	-		13346467	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	SNP	1.000	A	A	13346467	G	A	13346467	2	1	196	1	0	0	0	0	0	0	0	1	2540	1335	47	2		2	CACNA1A	19	13346467	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	287358	13346467	45782516	2008	15280											
CACNA1A	773	genome.wustl.edu	37	chr19	13368324	13368324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtacccggggctggggCcctggttctcaaaggtggcg	18	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:13368324C>T	ENST00000360228.5	-	28	4429	c.4430G>A	c.(4429-4431)gGc>gAc	p.G1477D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1478D	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	1478					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)			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)	GGGGCTGGGGCCCTGGTTCTC	0.557																																																	0								ENSG00000141837						65	60	61					19																	13368324		1893	4114	6007	CACNA1A	SO:0001583	missense	0			-	HGNC	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.4430G>A	19.37:g.13368324C>T	ENSP00000353362:p.Gly1477Asp	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.15	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.G1477D	ENST00000360228.5	37	c.4430	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718105	0.68844	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96685	-4.09	5.13	5.13	0.70059	Ion transport (1);	0.133715	0.49305	D	0.000141	D	0.98147	0.9388	M	0.83483	2.645	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	0.99243	1.0885	10	0.87932	D	0	.	17.3526	0.87328	0.0:1.0:0.0:0.0	.	1478;1481;1477	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	1477;1481;1478;1478;94	ENSP00000353362:G1477D	ENSP00000317661:G1478D	G	-	2	0	CACNA1A	13229324	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.757000	0.85209	2.387000	0.81309	0.563000	0.77884	GGC	-	pfam_Ion_trans_dom		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	C	NM_000068	-		13368324	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13368324	C	T	13368324	3	4	196	1	0	0	0	0	1	0	0	0	2540	739	26	2	3272	2	CACNA1A	19	13368324	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	21857	13368324	45760659	2009	15281											
C19orf57	79173	genome.wustl.edu	37	chr19	14006231	14006231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgtgctgctgtgtagaggGaacaggtcccaatttgccct	12	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:14006231G>A	ENST00000586783.1	-	2	159	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P54S|C19orf57_ENST00000591586.1_Missense_Mutation_p.P54S|C19orf57_ENST00000454313.1_Missense_Mutation_p.P54S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	54					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGTGTAGAGGGAACAGGTCCC	0.567																																																	0								ENSG00000132016						185	175	178					19																	14006231		2203	4300	6503	C19orf57	SO:0001583	missense	0			-	HGNC	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.160C>T	19.37:g.14006231G>A	ENSP00000465822:p.Pro54Ser	Somatic	0	101	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	100	22.90	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP							NULL	p.P54S	ENST00000586783.1	37	c.160		19	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514871	0.44763	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.33865	1.39;1.39	4.09	-4.02	0.04034	.	0.855359	0.09766	N	0.758649	T	0.21347	0.0514	L	0.36672	1.1	0.09310	N	1	P	0.37101	0.582	B	0.33392	0.163	T	0.17653	-1.0362	10	0.87932	D	0	-0.0548	4.6025	0.12361	0.412:0.2863:0.3017:0.0	.	54	Q0VDD7-2	.	S	54	ENSP00000404382:P54S;ENSP00000254336:P54S	ENSP00000254336:P54S	P	-	1	0	C19orf57	13867231	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.593000	0.05844	-0.345000	0.07892	CCC	-	NULL		0.567	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	protein_coding	OTTHUMT00000457947.1	G	NM_024323	-		14006231	-1	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14006231	G	A	14006231	3	1	196	1	0	0	0	0	1	0	0	0	1941	1174	41	2	1777	2	C19orf57	19	14006231	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	637907	14006231	45122752	2010	15282											
CASP14	23581	genome.wustl.edu	37	chr19	15164599	15164599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgattcccgggaagatcCcgtcagttgtgccttcgtgg	12	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15164599C>T	ENST00000427043.3	+	4	541	c.233C>T	c.(232-234)cCc>cTc	p.P78L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.P78L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	78					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CGGGAAGATCCCGTCAGTTGT	0.557																																																	0								ENSG00000105141						82	72	76					19																	15164599		2203	4300	6503	CASP14	SO:0001583	missense	0			-	HGNC		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.233C>T	19.37:g.15164599C>T	ENSP00000393417:p.Pro78Leu	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	O95823|Q3SYC9	Missense_Mutation	SNP							pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.P78L	ENST00000427043.3	37	c.233	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	c	6.397	0.441393	0.12164	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.03152	4.03;4.03	5.05	2.83	0.33086	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.499875	0.20150	N	0.098186	T	0.02610	0.0079	L	0.41492	1.28	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.48948	-0.8989	10	0.05436	T	0.98	.	3.4158	0.07375	0.2499:0.5926:0.0:0.1575	.	78	P31944	CASPE_HUMAN	L	78	ENSP00000393417:P78L;ENSP00000221740:P78L	ENSP00000221740:P78L	P	+	2	0	CASP14	15025599	0.002000	0.14202	0.000000	0.03702	0.198000	0.23893	0.539000	0.23175	0.390000	0.25115	0.306000	0.20318	CCC	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20		0.557	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	protein_coding	OTTHUMT00000465663.1	C	NM_012114	-		15164599	1	no_errors	ENST00000221740	ensembl	human	known	74_37	missense	SNP	0.003	T	T	15164599	C	T	15164599	3	4	196	1	0	0	0	0	1	0	0	0	2672	623	22	2	243	2	CASP14	19	15164599	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1158368	15164599	43964384	2011	15283											
ILVBL	10994	genome.wustl.edu	37	chr19	15233758	15233758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggtgggcacaatgtcCcgcaccctccgcacagacac	10	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15233758C>T	ENST00000263383.3	-	5	688	c.549G>A	c.(547-549)cgG>cgA	p.R183R	ILVBL_ENST00000534378.1_Silent_p.R76R|ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	183						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GCACAATGTCCCGCACCCTCC	0.642																																																	0								ENSG00000105135						64	66	65					19																	15233758		2203	4300	6503	ILVBL	SO:0001819	synonymous_variant	0			-	HGNC	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.549G>A	19.37:g.15233758C>T		Somatic	0	25	0		0.52429534266604	47	43.37	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP							pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.R183	ENST00000263383.3	37	c.549	CCDS12325.1	19																																																																																			-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	protein_coding	OTTHUMT00000385439.1	C	NM_006844	-		15233758	-1	no_errors	ENST00000263383	ensembl	human	known	74_37	silent	SNP	0.998	T	T	15233758	C	T	15233758	2	4	196	1	0	0	0	0	0	0	0	1	7717	610	22	2		2	ILVBL	19	15233758	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	69159	15233758	43895225	2012	15284											
NOTCH3	4854	genome.wustl.edu	37	chr19	15276890	15276890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaagccagcattagcGgggtgaagccatctgcaggg	16	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15276890G>A	ENST00000263388.2	-	30	5450	c.5375C>T	c.(5374-5376)cCg>cTg	p.P1792L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1792					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCATTAGCGGGGTGAAGCC	0.532																																																	0								ENSG00000074181						48	48	48					19																	15276890		2203	4300	6503	NOTCH3	SO:0001583	missense	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5375C>T	19.37:g.15276890G>A	ENSP00000263388:p.Pro1792Leu	Somatic	0	36	0		0.52429534266604	97	34.01	50	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P1792L	ENST00000263388.2	37	c.5375	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	30	5.053539	0.93793	.	.	ENSG00000074181	ENST00000263388	T	0.57752	0.38	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.32015	N	0.006715	T	0.77232	0.4100	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.81756	-0.0787	10	0.87932	D	0	.	17.6214	0.88083	0.0:0.0:1.0:0.0	.	1792	Q9UM47	NOTC3_HUMAN	L	1792	ENSP00000263388:P1792L	ENSP00000263388:P1792L	P	-	2	0	NOTCH3	15137890	1.000000	0.71417	0.962000	0.40283	0.938000	0.57974	9.519000	0.98025	2.688000	0.91661	0.655000	0.94253	CCG	-	pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.532	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	G	NM_000435	-		15276890	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15276890	G	A	15276890	3	1	196	1	0	0	0	0	1	0	0	0	10552	1116	39	1	1606	1	NOTCH3	19	15276890	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	43132	15276890	43852093	2013	15285											
AKAP8L	26993	genome.wustl.edu	37	chr19	15508397	15508397	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcctccacggtttttcGgagctcctctgtcttcttgg	10	12	3	0	rs532848259		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15508397G>A	ENST00000397410.5	-	11	1469	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Nonsense_Mutation_p.R386*	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	447						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACGGTTTTTCGGAGCTCCTCT	0.507													g|||	1	0.000199681	8e-04	0	5008	,	,		20614	0		0	False		,,,				2504	0																0								ENSG00000011243						159	153	155					19																	15508397		1976	4145	6121	AKAP8L	SO:0001587	stop_gained	0			-	HGNC	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1339C>T	19.37:g.15508397G>A	ENSP00000380557:p.Arg447*	Somatic	0	86	0		0.52429534266604	79	24.76	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	68	42.86	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Nonsense_Mutation	SNP							pfam_AKAP95	p.R447*	ENST00000397410.5	37	c.1339	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	g	35	5.575906	0.96553	.	.	ENSG00000011243	ENST00000397410	.	.	.	5.26	3.12	0.35913	.	0.160739	0.43110	D	0.000613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5868	9.2154	0.37344	0.0772:0.0:0.7771:0.1457	.	.	.	.	X	447	.	ENSP00000380557:R447X	R	-	1	2	AKAP8L	15369397	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.140000	0.58031	0.604000	0.29930	0.556000	0.70494	CGA	-	pfam_AKAP95		0.507	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	protein_coding	OTTHUMT00000461301.2	G	NM_014371	-		15508397	-1	no_errors	ENST00000397410	ensembl	human	known	74_37	nonsense	SNP	0.989	A	A	15508397	G	A	15508397	4	1	196	1	0	0	0	0	0	1	0	0	458	1124	39	1	617	1	AKAP8L	19	15508397	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	231507	15508397	43620586	2014	15286											
CYP4F12	66002	genome.wustl.edu	37	chr19	15791085	15791085	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaaggataatctcttcatCaggttcctgaagccctggct	8	13	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15791085C>T	ENST00000550308.1	+	4	755	c.375C>T	c.(373-375)atC>atT	p.I125I	CYP4F12_ENST00000324632.10_Silent_p.I125I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	125					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)	ATCTCTTCATCAGGTTCCTGA	0.572																																																	0								ENSG00000186204						129	133	132					19																	15791085		2189	4295	6484	CYP4F12	SO:0001819	synonymous_variant	0			-	HGNC	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.375C>T	19.37:g.15791085C>T		Somatic	0	63	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	59	26.83	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP							NULL	p.S100L	ENST00000550308.1	37	c.299	CCDS42517.1	19																																																																																			-	NULL		0.572	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	C		-		15791085	1	no_errors	ENST00000517734	ensembl	human	known	74_37	missense	SNP	0.002	T	T	15791085	C	T	15791085	2	4	196	1	0	0	0	0	0	0	0	1	4189	816	29	2		2	CYP4F12	19	15791085	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	282688	15791085	43337898	2015	15287											
OR10H1	26539	genome.wustl.edu	37	chr19	15918651	15918651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggatctcggagacggagAgggcgcacaggaagaggtac	18	7	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15918651A>G	ENST00000334920.2	-	1	285	c.197T>C	c.(196-198)cTc>cCc	p.L66P		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGAGACGGAGAGGGCGCACAG	0.642																																																	0								ENSG00000186723						109	96	101					19																	15918651		2200	4291	6491	OR10H1	SO:0001583	missense	0			-	HGNC	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.197T>C	19.37:g.15918651A>G	ENSP00000335596:p.Leu66Pro	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	28.77	Q6IFQ2|Q96R59	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66P	ENST00000334920.2	37	c.197	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	a	16.48	3.136485	0.56936	.	.	ENSG00000186723	ENST00000334920	T	0.00591	6.35	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000617	T	0.04815	0.0130	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00675	-1.1615	10	0.87932	D	0	.	12.1357	0.53970	1.0:0.0:0.0:0.0	.	66	Q9Y4A9	O10H1_HUMAN	P	66	ENSP00000335596:L66P	ENSP00000335596:L66P	L	-	2	0	OR10H1	15779651	1.000000	0.71417	0.898000	0.35279	0.346000	0.29079	8.526000	0.90588	1.760000	0.52011	0.523000	0.50628	CTC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	protein_coding	OTTHUMT00000460364.1	A		-		15918651	-1	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	SNP	0.992	G	G	15918651	A	G	15918651	3	3	196	1	0	0	0	0	1	0	0	0	10907	304	11	5	763	5	OR10H1	19	15918651	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	127566	15918651	43210332	2016	15288											
C19orf44	84167	genome.wustl.edu	37	chr19	16611858	16611858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagaccgcccaccactgcCtccaggatccgagccaatgc	9	17	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:16611858C>T	ENST00000221671.3	+	2	411	c.255C>T	c.(253-255)gcC>gcT	p.A85A	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.A85A	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	85										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCACCACTGCCTCCAGGATCC	0.537																																																	0								ENSG00000105072						91	104	100					19																	16611858		2203	4300	6503	C19orf44	SO:0001819	synonymous_variant	0			-	HGNC	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.255C>T	19.37:g.16611858C>T		Somatic	0	88	0		0.52429534266604	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	60	43.93	Q8N6Y7	Silent	SNP							NULL	p.A85	ENST00000221671.3	37	c.255	CCDS12345.1	19																																																																																			-	NULL		0.537	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	protein_coding	OTTHUMT00000461218.1	C	NM_032207	-		16611858	1	no_errors	ENST00000221671	ensembl	human	known	74_37	silent	SNP	0.000	T	T	16611858	C	T	16611858	2	4	196	1	0	0	0	0	0	0	0	1	1929	668	24	2		2	C19orf44	19	16611858	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	693207	16611858	42517125	2017	15289											
C19orf44	84167	genome.wustl.edu	37	chr19	16612275	16612275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagtattgctaggaagCttgatggactcttctagaga	11	5	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:16612275C>T	ENST00000221671.3	+	2	828	c.672C>T	c.(670-672)agC>agT	p.S224S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.S224S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	224										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGCTAGGAAGCTTGATGGACT	0.408																																																	0								ENSG00000105072						70	75	73					19																	16612275		2203	4299	6502	C19orf44	SO:0001819	synonymous_variant	0			-	HGNC	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.672C>T	19.37:g.16612275C>T		Somatic	0	76	0		0.52429534266604	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	71	24.47	Q8N6Y7	Silent	SNP							NULL	p.S224	ENST00000221671.3	37	c.672	CCDS12345.1	19																																																																																			-	NULL		0.408	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	protein_coding	OTTHUMT00000461218.1	C	NM_032207	-		16612275	1	no_errors	ENST00000221671	ensembl	human	known	74_37	silent	SNP	0.771	T	T	16612275	C	T	16612275	2	4	196	1	0	0	0	0	0	0	0	1	1929	796	28	2		2	C19orf44	19	16612275	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	417	16612275	42516708	2018	15290											
CHERP	84167	genome.wustl.edu	37	chr19	16631200	16631200	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggagcgggagtaggaacGggagcaggagcgcgaccttg	19	8	1	0	rs201289066		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:16631200G>A	ENST00000221671.3	+	0	2466				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R785C|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.R774C	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAGTAGGAACGGGAGCAGGAG	0.617																																																	0								ENSG00000085872						131	144	140					19																	16631200		2089	4197	6286	CHERP	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*336G>A	19.37:g.16631200G>A		Somatic	0	46	0		0.52429534266604	41	52.87	46	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	53	41.30	Q8N6Y7	Missense_Mutation	SNP							pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.R774C	ENST00000221671.3	37	c.2320	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653381	0.47362	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.30182	1.54;1.54	4.67	3.64	0.41730	.	.	.	.	.	T	0.26376	0.0644	L	0.53249	1.67	0.54753	D	0.999986	D	0.63880	0.993	B	0.41135	0.348	T	0.05683	-1.0870	9	0.72032	D	0.01	-17.8865	6.8318	0.23915	0.0904:0.0:0.7354:0.1742	.	774	Q8IWX8	CHERP_HUMAN	C	774;785	ENSP00000439856:R774C;ENSP00000198939:R785C	ENSP00000198939:R785C	R	-	1	0	CHERP	16492200	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	5.901000	0.69861	0.953000	0.37825	0.561000	0.74099	CGT	-	NULL		0.617	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	protein_coding	OTTHUMT00000461218.1	G	NM_032207	rs201289066		16631200	-1	no_errors	ENST00000546361	ensembl	human	known	74_37	missense	SNP	0.967	A	A	16631200	G	A	16631200	1	1	196	0	1	0	0	0	0	0	0	0	3338	1116	39	1		1	CHERP	19	16631200	3'UTR	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	18925	16631200	42497783	2019	15291											
KCNN1	3780	genome.wustl.edu	37	chr19	18096154	18096154	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaagtgaccagcaacttCctgggggccatgtggctgat	14	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18096154C>T	ENST00000222249.9	+	6	1270	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	317					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CCAGCAACTTCCTGGGGGCCA	0.597																																																	0								ENSG00000105642						74	80	78					19																	18096154		2136	4259	6395	KCNN1	SO:0001819	synonymous_variant	0			-	HGNC	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.951C>T	19.37:g.18096154C>T		Somatic	0	27	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	Q5KR10|Q6DJU4	Silent	SNP							pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.F317	ENST00000222249.9	37	c.951		19																																																																																			-	pfam_2pore_dom_K_chnl_dom		0.597	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	protein_coding	OTTHUMT00000471896.2	C	NM_002248	-		18096154	1	no_errors	ENST00000222249	ensembl	human	known	74_37	silent	SNP	1.000	T	T	18096154	C	T	18096154	2	4	196	1	0	0	0	0	0	0	0	1	8080	854	30	2		2	KCNN1	19	18096154	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1464954	18096154	41032829	2020	15292											
MAST3	23031	genome.wustl.edu	37	chr19	18257756	18257756	+	Silent	SNP	C	C	T													tccatcaaggtgggccccgcCcggaagaatgtggccaaggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18257756C>T	ENST00000262811.6	+	25	3141	c.3141C>T	c.(3139-3141)gcC>gcT	p.A1047A	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1047							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGGGCCCCGCCCGGAAGAATG	0.672																																																	0								ENSG00000099308						21	23	22					19																	18257756		1930	4073	6003	MAST3	SO:0001819	synonymous_variant	0			-	HGNC	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3141C>T	19.37:g.18257756C>T		Somatic	0	29	0		0.52429534266604	3	57.14	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	Q7LDZ8|Q9UPI0	Silent	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A1047	ENST00000262811.6	37	c.3141	CCDS46014.1	19																																																																																			-	NULL		0.672	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	protein_coding	OTTHUMT00000466526.2	C	XM_038150	-		18257756	1	no_errors	ENST00000262811	ensembl	human	known	74_37	silent	SNP	0.516	T	T	18257756	C	T	18257756	2	4	196	1	0	0	0	0	0	0	0	1	9328	610	22	2		2	MAST3	19	18257756	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	161602	18257756	40871227	2021	15293	359	2									
MAST3	23031	genome.wustl.edu	37	chr19	18257757	18257757	+	Missense_Mutation	SNP	C	C	T													ccatcaaggtgggccccgccCggaagaatgtggccaagggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18257757C>T	ENST00000262811.6	+	25	3142	c.3142C>T	c.(3142-3144)Cgg>Tgg	p.R1048W	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1048							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGGCCCCGCCCGGAAGAATGT	0.667																																																	0								ENSG00000099308						20	23	22					19																	18257757		1930	4077	6007	MAST3	SO:0001583	missense	0			-	HGNC	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3142C>T	19.37:g.18257757C>T	ENSP00000262811:p.Arg1048Trp	Somatic	0	30	0		0.52429534266604	3	66.67	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R1048W	ENST00000262811.6	37	c.3142	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	c	15.60	2.881639	0.51908	.	.	ENSG00000099308	ENST00000262811	T	0.72505	-0.66	4.38	3.35	0.38373	.	0.065055	0.56097	N	0.000021	T	0.82190	0.4983	M	0.86178	2.8	0.43598	D	0.995958	D	0.89917	1.0	D	0.79784	0.993	T	0.81493	-0.0908	10	0.87932	D	0	-22.1802	6.3879	0.21572	0.3036:0.6066:0.0:0.0898	.	1048	O60307	MAST3_HUMAN	W	1048	ENSP00000262811:R1048W	ENSP00000262811:R1048W	R	+	1	2	MAST3	18118757	0.974000	0.33945	0.280000	0.24747	0.681000	0.39784	2.389000	0.44407	0.834000	0.34852	-0.348000	0.07805	CGG	-	NULL		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	protein_coding	OTTHUMT00000466526.2	C	XM_038150	-		18257757	1	no_errors	ENST00000262811	ensembl	human	known	74_37	missense	SNP	0.732	T	T	18257757	C	T	18257757	3	4	196	1	0	0	0	0	1	0	0	0	9328	643	23	1	3240	1	MAST3	19	18257757	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	18257757	40871226	2022	15294	359	2									
PDE4C	5143	genome.wustl.edu	37	chr19	18333087	18333087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccagggctggactgagGgtccagggccctcctcccac	14	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18333087G>A	ENST00000355502.3	-	6	1160	c.289C>T	c.(289-291)Cct>Tct	p.P97S	PDE4C_ENST00000262805.12_Missense_Mutation_p.P65S|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000447275.3_5'UTR|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000594617.3_Missense_Mutation_p.P97S|PDE4C_ENST00000597297.1_5'Flank|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.P97S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	97					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGACTGAGGGTCCAGGGCC	0.617																																																	0								ENSG00000105650						48	49	48					19																	18333087		2203	4300	6503	PDE4C	SO:0001583	missense	0			-	HGNC		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.289C>T	19.37:g.18333087G>A	ENSP00000347689:p.Pro97Ser	Somatic	0	15	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.P97S	ENST00000355502.3	37	c.289	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001852	0.07819	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000543547	T;T	0.69561	1.01;-0.41	4.13	-1.14	0.09741	.	.	.	.	.	T	0.43986	0.1272	L	0.28115	0.83	0.80722	D	1	B;B;B	0.17268	0.021;0.012;0.001	B;B;B	0.21917	0.007;0.012;0.037	T	0.11372	-1.0590	9	0.25106	T	0.35	.	1.9652	0.03394	0.178:0.3009:0.3762:0.145	.	206;97;65	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	S	176;97;85;65;206	ENSP00000347689:P97S;ENSP00000262805:P65S	ENSP00000262805:P65S	P	-	1	0	PDE4C	18194087	0.997000	0.39634	0.034000	0.17996	0.415000	0.31203	0.731000	0.26058	-0.414000	0.07495	0.306000	0.20318	CCT	-	NULL		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	protein_coding	OTTHUMT00000466295.1	G		-		18333087	-1	no_errors	ENST00000355502	ensembl	human	known	74_37	missense	SNP	0.984	A	A	18333087	G	A	18333087	3	1	196	1	0	0	0	0	1	0	0	0	11643	1232	43	2	1905	2	PDE4C	19	18333087	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	75330	18333087	40795896	2023	15295											
KIAA1683	80726	genome.wustl.edu	37	chr19	18376638	18376638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcagccaaataggaggggGatgaggctttcaccaccttt	11	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18376638G>A	ENST00000600328.3	-	3	1905	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	KIAA1683_ENST00000600359.3_Missense_Mutation_p.S525F|KIAA1683_ENST00000392413.4_Missense_Mutation_p.S571F			Q9H0B3	K1683_HUMAN	KIAA1683	571						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						ATAGGAGGGGGATGAGGCTTT	0.602																																																	0								ENSG00000130518						66	53	57					19																	18376638		2203	4299	6502	KIAA1683	SO:0001583	missense	0			-	HGNC	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.1712C>T	19.37:g.18376638G>A	ENSP00000470780:p.Ser571Phe	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.S571F	ENST00000600328.3	37	c.1712	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369360	0.24771	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.07021	3.26;3.23;3.38	4.36	4.36	0.52297	.	0.195828	0.25610	N	0.029485	T	0.20007	0.0481	L	0.58101	1.795	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65987	0.94;0.94	T	0.08911	-1.0699	10	0.18276	T	0.48	-8.1495	12.7742	0.57437	0.0:0.0:1.0:0.0	.	571;571	E9PDE0;Q9H0B3	.;K1683_HUMAN	F	571;571;525	ENSP00000376213:S571F;ENSP00000352774:S571F;ENSP00000404501:S525F	ENSP00000352774:S571F	S	-	2	0	KIAA1683	18237638	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.689000	0.25437	2.144000	0.66660	0.563000	0.77884	TCC	-	NULL		0.602	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	G		-		18376638	-1	no_errors	ENST00000392413	ensembl	human	known	74_37	missense	SNP	0.007	A	A	18376638	G	A	18376638	3	1	196	1	0	0	0	0	1	0	0	0	8253	1174	41	2	2399	2	KIAA1683	19	18376638	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	43551	18376638	40752345	2024	15296											
LOC729991-MEF2B	100271849	genome.wustl.edu	37	chr19	19257570	19257570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaggtgtttagtccccctCggggcccagccaggccacca	13	16	0	0	rs368120349		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:19257570C>T	ENST00000602424.2	-	8	1382	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R219Q|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R236Q|MEF2B_ENST00000162023.5_Missense_Mutation_p.R219Q|MEF2B_ENST00000409224.1_Missense_Mutation_p.R222Q|MEF2B_ENST00000410050.1_Missense_Mutation_p.R219Q|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000424583.2_Missense_Mutation_p.R219Q	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	219					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TAGTCCCCCTCGGGGCCCAGC	0.662																																																	0								ENSG00000213999						51	51	51					19																	19257570		2203	4300	6503	MEF2B	SO:0001583	missense	0			-	HGNC	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.656G>A	19.37:g.19257570C>T	ENSP00000473308:p.Arg219Gln	Somatic	0	14	0		0.52429534266604	9	47.06	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	7	58.82	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP							pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.R219Q	ENST00000602424.2	37	c.656	CCDS12394.1	19	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181433	0.38511	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000162023	D;D;D;D;D	0.87571	-2.27;-2.21;-2.24;-2.16;-2.21	4.58	4.58	0.56647	.	0.397256	0.22917	N	0.054072	D	0.86715	0.5999	L	0.32530	0.975	0.24227	N	0.995417	D;D;D;P	0.71674	0.998;0.99;0.998;0.772	P;P;P;B	0.58780	0.689;0.516;0.845;0.198	T	0.78023	-0.2366	10	0.25106	T	0.35	-1.7888	12.8877	0.58053	0.0:1.0:0.0:0.0	.	219;219;219;222	Q02080;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.	Q	222;219;219;219;219	ENSP00000386480:R222Q;ENSP00000402154:R219Q;ENSP00000386374:R219Q;ENSP00000390762:R219Q;ENSP00000162023:R219Q	ENSP00000162023:R219Q	R	-	2	0	MEF2B	19118570	0.064000	0.20934	0.968000	0.41197	0.260000	0.26232	1.133000	0.31430	2.123000	0.65237	0.561000	0.74099	CGA	-	NULL		0.662	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	protein_coding		C	NM_005919	-		19257570	-1	no_errors	ENST00000162023	ensembl	human	known	74_37	missense	SNP	0.631	T	T	19257570	C	T	19257570	3	4	196	1	0	0	0	0	1	0	0	0	8891	884	31	1	453	1	LOC729991-MEF2B	19	19257570	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	880932	19257570	39871413	2025	15297											
LOC729991-MEF2B	100271849	genome.wustl.edu	37	chr19	19257880	19257880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctgctggtcggaagGgagatgggcggctctgggcg	23	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:19257880G>A	ENST00000602424.2	-	7	1232	c.506C>T	c.(505-507)cCc>cTc	p.P169L	MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P169L|MEF2B_ENST00000409447.2_Missense_Mutation_p.P169L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P186L|MEF2B_ENST00000162023.5_Missense_Mutation_p.P169L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P172L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P169L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000424583.2_Missense_Mutation_p.P169L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	169					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGGTCGGAAGGGAGATGGGCG	0.672																																																	0								ENSG00000213999						17	19	18					19																	19257880		2201	4297	6498	MEF2B	SO:0001583	missense	0			-	HGNC	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.506C>T	19.37:g.19257880G>A	ENSP00000473308:p.Pro169Leu	Somatic	0	33	0		0.52429534266604	18	28	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP							pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.P169L	ENST00000602424.2	37	c.506	CCDS12394.1	19	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681752	0.47991	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.87729	-2.19;-2.15;-2.19;-2.29;-2.15	5.33	4.27	0.50696	.	0.807299	0.10908	N	0.620936	D	0.87265	0.6134	L	0.27053	0.805	0.42504	D	0.99294	P;D;D;D;P	0.64830	0.915;0.994;0.982;0.97;0.842	B;P;P;P;B	0.59889	0.371;0.865;0.637;0.641;0.254	T	0.82950	-0.0203	10	0.46703	T	0.11	-14.7767	10.9465	0.47304	0.0:0.0:0.8051:0.1949	.	169;216;169;169;172	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	L	172;169;169;169;216;169	ENSP00000386480:P172L;ENSP00000402154:P169L;ENSP00000386374:P169L;ENSP00000390762:P169L;ENSP00000162023:P169L	ENSP00000162023:P169L	P	-	2	0	MEF2B	19118880	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.901000	0.28445	1.190000	0.43042	0.561000	0.74099	CCC	-	NULL		0.672	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	protein_coding		G	NM_005919	-		19257880	-1	no_errors	ENST00000162023	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19257880	G	A	19257880	3	1	196	1	0	0	0	0	1	0	0	0	8891	1232	43	2	607	2	LOC729991-MEF2B	19	19257880	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	310	19257880	39871103	2026	15298											
GATAD2A	54815	genome.wustl.edu	37	chr19	19612117	19612117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggccgcctttgtgaaGgcgctgcagcaggaacagga	15	10	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:19612117G>A	ENST00000360315.3	+	9	1704	c.1392G>A	c.(1390-1392)aaG>aaA	p.K464K	GATAD2A_ENST00000537887.1_Silent_p.K93K|GATAD2A_ENST00000358713.3_Silent_p.K464K|GATAD2A_ENST00000429563.2_Silent_p.K292K|GATAD2A_ENST00000404158.1_Silent_p.K465K|GATAD2A_ENST00000252577.5_Silent_p.K464K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	464	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTTTGTGAAGGCGCTGCAGC	0.647																																																	0								ENSG00000167491						30	25	27					19																	19612117		2203	4299	6502	GATAD2A	SO:0001819	synonymous_variant	0			-	HGNC	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1392G>A	19.37:g.19612117G>A		Somatic	0	35	0		0.52429534266604	53	22.06	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP							pfam_Znf_GATA,pfscan_Znf_GATA	p.K464	ENST00000360315.3	37	c.1392	CCDS12402.2	19	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213887	0.22289	.	.	ENSG00000167491	ENST00000418032	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	T	0.64204	0.2577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61946	-0.6958	4	.	.	.	-17.7971	12.1912	0.54273	0.0838:0.0:0.9162:0.0	.	.	.	.	S	91	.	.	G	+	1	0	GATAD2A	19473117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.732000	0.47352	2.584000	0.87258	0.645000	0.84053	GGC	-	NULL		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	protein_coding	OTTHUMT00000326671.4	G	NM_017660	-		19612117	1	no_errors	ENST00000358713	ensembl	human	known	74_37	silent	SNP	1.000	A	A	19612117	G	A	19612117	2	1	196	1	0	0	0	0	0	0	0	1	6262	991	35	2		2	GATAD2A	19	19612117	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	354237	19612117	39516866	2027	15299											
ZNF253	56242	genome.wustl.edu	37	chr19	20002339	20002339	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatacaaaattctttcCaaatagggatgctgagaaga	8	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20002339C>T	ENST00000589717.1	+	4	375	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	95					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTCTTTCCAAATAGGGAT	0.368																																																	0								ENSG00000256771						40	40	40					19																	20002339		2083	4241	6324	ZNF253	SO:0001587	stop_gained	0			-	HGNC	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.283C>T	19.37:g.20002339C>T	ENSP00000468720:p.Gln95*	Somatic	0	58	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q95*	ENST00000589717.1	37	c.283	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	c	12.27	1.887906	0.33348	.	.	ENSG00000256771	ENST00000355650	.	.	.	1.92	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3533	0.02177	0.2044:0.4236:0.2033:0.1687	.	.	.	.	X	95	.	.	Q	+	1	0	ZNF253	19863339	0.000000	0.05858	0.026000	0.17262	0.078000	0.17371	-1.575000	0.02131	-0.175000	0.10725	0.298000	0.19748	CAA	-	NULL		0.368	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	protein_coding	OTTHUMT00000460802.1	C	NM_021047	-		20002339	1	no_errors	ENST00000589717	ensembl	human	known	74_37	nonsense	SNP	0.002	T	T	20002339	C	T	20002339	4	4	196	1	0	0	0	0	0	1	0	0	17804	595	21	2	297	2	ZNF253	19	20002339	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	390222	20002339	39126644	2028	15300											
ZNF90	7643	genome.wustl.edu	37	chr19	20228657	20228657	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagattccttccaaaaagtGatagtgacaagatatgaaaa	7	5	0	5			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20228657G>A	ENST00000418063.2	+	4	406	c.294G>A	c.(292-294)gtG>gtA	p.V98V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	98					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)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TCCAAAAAGTGATAGTGACAA	0.338																																																	0								ENSG00000213988						119	109	112					19																	20228657		692	1591	2283	ZNF90	SO:0001819	synonymous_variant	0			-	HGNC	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.294G>A	19.37:g.20228657G>A		Somatic	0	116	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	87	20.18	B9EH87	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V98	ENST00000418063.2	37	c.294	CCDS46028.1	19																																																																																			-	NULL		0.338	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	protein_coding	OTTHUMT00000350101.1	G	NM_007138	-		20228657	1	no_errors	ENST00000418063	ensembl	human	known	74_37	silent	SNP	0.000	A	A	20228657	G	A	20228657	2	1	196	1	0	0	0	0	0	0	0	1	18206	1277	45	2		2	ZNF90	19	20228657	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	226318	20228657	38900326	2029	15301											
ZNF90	7643	genome.wustl.edu	37	chr19	20228946	20228946	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgctacacataagaaaattCatactggagagataacctgc	7	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20228946C>T	ENST00000418063.2	+	4	695	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	195					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)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAAGAAAATTCATACTGGAGA	0.388																																																	0								ENSG00000213988						26	25	26					19																	20228946		692	1591	2283	ZNF90	SO:0001583	missense	0			-	HGNC	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.583C>T	19.37:g.20228946C>T	ENSP00000410466:p.His195Tyr	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	56	18.84	B9EH87	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H195Y	ENST00000418063.2	37	c.583	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	C	6.816	0.519618	0.13005	.	.	ENSG00000213988	ENST00000418063	T	0.28895	1.59	1.18	-0.165	0.13355	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56187	0.1968	H	0.96398	3.815	0.23449	N	0.997657	D	0.67145	0.996	P	0.57152	0.814	T	0.50294	-0.8845	8	.	.	.	.	5.4447	0.16529	0.0:0.7674:0.0:0.2326	.	195	Q03938	ZNF90_HUMAN	Y	195	ENSP00000410466:H195Y	.	H	+	1	0	ZNF90	20089946	0.156000	0.22821	0.017000	0.16124	0.017000	0.09413	1.974000	0.40559	-0.722000	0.04922	-0.708000	0.03648	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	protein_coding	OTTHUMT00000350101.1	C	NM_007138	-		20228946	1	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	SNP	0.974	T	T	20228946	C	T	20228946	3	4	196	1	0	0	0	0	1	0	0	0	18206	826	29	2	597	2	ZNF90	19	20228946	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	289	20228946	38900037	2030	15302											
ZNF208	7757	genome.wustl.edu	37	chr19	22156497	22156497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagggtgtctctccagtgtGaattttcttatgttccataa	9	7	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:22156497G>A	ENST00000397126.4	-	4	1487	c.1339C>T	c.(1339-1341)Cac>Tac	p.H447Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTGTGAATTTTCTTA	0.378																																																	0								ENSG00000160321						84	91	89					19																	22156497		2140	4259	6399	ZNF208	SO:0001583	missense	0			-	HGNC	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1339C>T	19.37:g.22156497G>A	ENSP00000380315:p.His447Tyr	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H447Y	ENST00000397126.4	37	c.1339	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059525	0.36373	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67523	-0.27	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79251	0.4414	.	.	.	0.29362	N	0.86461	D	0.63046	0.992	D	0.76071	0.987	T	0.73139	-0.4077	8	0.54805	T	0.06	.	12.3838	0.55322	0.0:0.0:1.0:0.0	.	447	O43345	ZN208_HUMAN	Y	447	ENSP00000380315:H447Y	ENSP00000380315:H447Y	H	-	1	0	ZNF208	21948337	1.000000	0.71417	0.098000	0.21074	0.005000	0.04900	5.196000	0.65136	1.150000	0.42419	0.306000	0.20318	CAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	G	NM_007153	-		22156497	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	SNP	0.991	A	A	22156497	G	A	22156497	3	1	196	1	0	0	0	0	1	0	0	0	17773	1290	45	2	2507	2	ZNF208	19	22156497	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1927551	22156497	36972486	2031	15303											
ZNF208	7757	genome.wustl.edu	37	chr19	22156635	22156635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actaaaacctttgccacattCttcacatttgtagggtttct	5	10	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:22156635C>T	ENST00000397126.4	-	4	1349	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.388																																																	0								ENSG00000160321						41	45	44					19																	22156635		1985	4207	6192	ZNF208	SO:0001583	missense	0			-	HGNC	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1201G>A	19.37:g.22156635C>T	ENSP00000380315:p.Glu401Lys	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E401K	ENST00000397126.4	37	c.1201	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394807	0.25205	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	2.65	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.41978	0.767	B	0.42738	0.396	T	0.25187	-1.0139	8	0.51188	T	0.08	.	11.6119	0.51064	0.0:0.7975:0.2025:0.0	.	401	O43345	ZN208_HUMAN	K	401	ENSP00000380315:E401K	ENSP00000380315:E401K	E	-	1	0	ZNF208	21948475	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.115000	0.03289	1.034000	0.39945	0.306000	0.20318	GAA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	C	NM_007153	-		22156635	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	SNP	0.024	T	T	22156635	C	T	22156635	3	4	196	1	0	0	0	0	1	0	0	0	17773	922	32	2	2645	2	ZNF208	19	22156635	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	138	22156635	36972348	2032	15304											
ZNF99	7652	genome.wustl.edu	37	chr19	22941204	22941204	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaaggtttctcttccatatGaattaccttatgtacagtaa	6	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:22941204G>A	ENST00000596209.1	-	4	1597	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF99_ENST00000397104.3_Missense_Mutation_p.H412Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	503					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)				TCTTCCATATGAATTACCTTA	0.343																																																	0								ENSG00000213973						42	43	43					19																	22941204		2058	4216	6274	ZNF99	SO:0001583	missense	0			-	HGNC	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.1507C>T	19.37:g.22941204G>A	ENSP00000472969:p.His503Tyr	Somatic	0	83	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	95	23.39	M0R335	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H412Y	ENST00000596209.1	37	c.1234	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	13.48	2.250801	0.39797	.	.	ENSG00000213973	ENST00000397104	T	0.28895	1.59	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59824	0.2222	M	0.94063	3.49	0.36033	D	0.839539	D	0.89917	1.0	D	0.71870	0.975	T	0.70777	-0.4780	9	0.87932	D	0	.	9.2264	0.37410	0.0:0.0:1.0:0.0	.	412	A8MXY4	ZNF99_HUMAN	Y	412	ENSP00000380293:H412Y	ENSP00000380293:H412Y	H	-	1	0	ZNF99	22733044	0.016000	0.18221	0.004000	0.12327	0.025000	0.11179	1.044000	0.30329	0.597000	0.29811	0.194000	0.17425	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	protein_coding	OTTHUMT00000464591.1	G	XM_065124	-		22941204	-1	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	SNP	0.977	A	A	22941204	G	A	22941204	3	1	196	1	0	0	0	0	1	0	0	0	18211	1290	45	2	1890	2	ZNF99	19	22941204	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	784569	22941204	36187779	2033	15305											
SLC7A9	11136	genome.wustl.edu	37	chr19	33353441	33353441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcggtgaagatgttcTggacgtagcttcccagccgc	14	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:33353441T>C	ENST00000023064.4	-	5	721	c.530A>G	c.(529-531)cAg>cGg	p.Q177R	SLC7A9_ENST00000587772.1_Missense_Mutation_p.Q177R|SLC7A9_ENST00000590341.1_Missense_Mutation_p.Q177R|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	177					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATGTTCTGGACGTAGCT	0.587																																					GBM(181;1335 2108 9644 44178 46689)												0								ENSG00000021488						79	68	72					19																	33353441		2203	4300	6503	SLC7A9	SO:0001583	missense	0			-	HGNC	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.530A>G	19.37:g.33353441T>C	ENSP00000023064:p.Gln177Arg	Somatic	0	54	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.36	B2R9A6	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.Q177R	ENST00000023064.4	37	c.530	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747852	0.69533	.	.	ENSG00000021488	ENST00000023064	D	0.91996	-2.95	5.63	5.63	0.86233	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98660	1.0683	10	0.87932	D	0	.	16.1359	0.81487	0.0:0.0:0.0:1.0	.	177	P82251	BAT1_HUMAN	R	177	ENSP00000023064:Q177R	ENSP00000023064:Q177R	Q	-	2	0	SLC7A9	38045281	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.950000	0.87804	2.276000	0.75962	0.454000	0.30748	CAG	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.587	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	T		-		33353441	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33353441	T	C	33353441	3	2	196	1	0	0	0	0	1	0	0	0	14713	1580	55	5	969	5	SLC7A9	19	33353441	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	10412237	33353441	25775542	2034	15306											
ZNF792	126375	genome.wustl.edu	37	chr19	35449413	35449413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcaccacacccgtgaGgccgctcgccagtgtgaact	9	17	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:35449413G>A	ENST00000404801.1	-	4	1732	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P382L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	449					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(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACACCCGTGAGGCCGCTCGCC	0.502																																					GBM(1;7 183 21053 22581 22847)												0								ENSG00000180884						119	116	117					19																	35449413		2203	4300	6503	ZNF792	SO:0001583	missense	0			-	HGNC	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1346C>T	19.37:g.35449413G>A	ENSP00000385099:p.Pro449Leu	Somatic	0	34	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	19.57	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P449L	ENST00000404801.1	37	c.1346	CCDS12440.2	19	.	.	.	.	.	.	.	.	.	.	g	14.61	2.587584	0.46110	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.27557	1.66	2.77	2.77	0.32553	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54565	0.1866	M	0.80332	2.49	0.51233	D	0.999913	D	0.89917	1.0	D	0.91635	0.999	T	0.61004	-0.7150	9	0.66056	D	0.02	.	11.7133	0.51637	0.0:0.0:1.0:0.0	.	449	Q3KQV3	ZN792_HUMAN	L	449;209	ENSP00000385099:P449L	ENSP00000368487:P209L	P	-	2	0	ZNF792	40141253	1.000000	0.71417	0.020000	0.16555	0.153000	0.21895	3.724000	0.54962	1.854000	0.53819	0.563000	0.77884	CCT	-	pfscan_Znf_C2H2		0.502	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	protein_coding	OTTHUMT00000317673.1	G	NM_175872	-		35449413	-1	no_errors	ENST00000404801	ensembl	human	known	74_37	missense	SNP	0.965	A	A	35449413	G	A	35449413	3	1	196	1	0	0	0	0	1	0	0	0	18171	1000	35	2	556	2	ZNF792	19	35449413	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2095972	35449413	23679570	2035	15307											
FFAR1	2864	genome.wustl.edu	37	chr19	35843211	35843211	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcttcctgtaccccaatCtaggaggctcctggcggaag	11	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:35843211C>T	ENST00000246553.2	+	1	767	c.757C>T	c.(757-759)Cta>Tta	p.L253L		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	253					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)			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)	GTACCCCAATCTAGGAGGCTC	0.662																																																	0								ENSG00000126266						14	10	11					19																	35843211		2128	4196	6324	FFAR1	SO:0001819	synonymous_variant	0			-	HGNC	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.757C>T	19.37:g.35843211C>T		Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	28	37.78	Q0VAS2|Q4VBL4	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn	p.L253	ENST00000246553.2	37	c.757	CCDS12458.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.662	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR1	protein_coding	OTTHUMT00000466112.2	C	NM_005303	-		35843211	1	no_errors	ENST00000246553	ensembl	human	known	74_37	silent	SNP	0.000	T	T	35843211	C	T	35843211	2	4	196	1	0	0	0	0	0	0	0	1	5829	912	32	2		2	FFAR1	19	35843211	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	393798	35843211	23285772	2036	15308											
MLL4	9757	genome.wustl.edu	37	chr19	36228051	36228051	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttcctggccgagcagctCcccggagcccagcgttgcca	11	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:36228051C>T	ENST00000222270.7	+	33	7437	c.7437C>T	c.(7435-7437)ctC>ctT	p.L2479L	KMT2B_ENST00000420124.1_Silent_p.L2479L|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2479	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCGAGCAGCTCCCCGGAGCCC	0.627																																																	0								ENSG00000272333						25	28	27					19																	36228051		2129	4240	6369	KMT2B	SO:0001819	synonymous_variant	0			-	Uniprot_gn	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7437C>T	19.37:g.36228051C>T		Somatic	0	40	0		0.52429534266604	54	37.21	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	13.33	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP							pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L2479	ENST00000222270.7	37	c.7437	CCDS46055.1	19																																																																																			-	pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	protein_coding		C	NM_014727	-		36228051	1	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	SNP	0.011	T	T	36228051	C	T	36228051	2	4	196	1	0	0	0	0	0	0	0	1	9625	842	30	2		2	MLL4	19	36228051	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	384840	36228051	22900932	2037	15309											
NPHS1	4868	genome.wustl.edu	37	chr19	36317546	36317546	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagtggaggtcccagggtCcctgacaggcaaaaagtgga	15	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:36317546C>T	ENST00000378910.5	-	29	3595	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E	NPHS1_ENST00000353632.6_Splice_Site_p.G1159E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1199	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCAGGGTCCCTGACAGGC	0.517																																																	0								ENSG00000161270						71	68	69					19																	36317546		2203	4300	6503	NPHS1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3595-1G>A	19.37:g.36317546C>T		Somatic	0	72	0		0.52429534266604	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	83	14.43	A6NDH2|C3RX61	Missense_Mutation	SNP							pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1199E	ENST00000378910.5	37	c.3596	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	C	9.299	1.052724	0.19907	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.74315	-0.58;-0.83	4.83	-1.92	0.07618	.	1.011570	0.07910	N	0.974087	T	0.52354	0.1729	L	0.27053	0.805	0.21473	N	0.999675	B	0.28713	0.22	B	0.19148	0.024	T	0.26677	-1.0096	10	0.15499	T	0.54	-1.8577	4.7257	0.12939	0.0:0.3905:0.1609:0.4486	.	1199	O60500	NPHN_HUMAN	E	1199;1159	ENSP00000368190:G1199E;ENSP00000343634:G1159E	ENSP00000343634:G1159E	G	-	2	0	NPHS1	41009386	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.225000	0.09151	-0.456000	0.07043	0.644000	0.83932	GGA	-	NULL		0.517	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	C		-	Missense_Mutation	36317546	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	SNP	0.000	T	T	36317546	C	T	36317546	5	4	196	1	0	0	0	0	0	0	1	0	10584	869	30	2	133	2	NPHS1	19	36317546	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	89495	36317546	22811437	2038	15310											
ZFP14	57677	genome.wustl.edu	37	chr19	36831859	36831859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacactgtctaaaggtctttCcacagtccttacattcatag	5	11	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:36831859C>A	ENST00000270001.7	-	5	984	c.869G>T	c.(868-870)gGa>gTa	p.G290V		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	290					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(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AAAGGTCTTTCCACAGTCCTT	0.433																																																	0								ENSG00000142065						103	110	107					19																	36831859		2203	4300	6503	ZFP14	SO:0001583	missense	0			-	HGNC	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.869G>T	19.37:g.36831859C>A	ENSP00000270001:p.Gly290Val	Somatic	0	60	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	41	50.00	A7MD23	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G290V	ENST00000270001.7	37	c.869	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145782	0.57044	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07567	3.18	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000301	T	0.37652	0.1011	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.963	T	0.53563	-0.8421	10	0.87932	D	0	.	15.3254	0.74157	0.0:1.0:0.0:0.0	.	290;290	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	V	290	ENSP00000270001:G290V	ENSP00000270001:G290V	G	-	2	0	ZFP14	41523699	0.661000	0.27430	1.000000	0.80357	0.924000	0.55760	1.273000	0.33121	2.208000	0.71279	0.549000	0.68633	GGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	protein_coding	OTTHUMT00000452528.1	C	NM_020917	-		36831859	-1	no_errors	ENST00000270001	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36831859	C	A	36831859	3	1	196	1	0	0	0	0	1	0	0	0	17646	855	30	3	736	3	ZFP14	19	36831859	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	514313	36831859	22297124	2039	15311											
ZNF529	57711	genome.wustl.edu	37	chr19	37039185	37039185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttttgaataatatcttttCctacagataaatgcttagtc	5	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:37039185C>T	ENST00000591340.1	-	5	433	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	92	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)			breast(1)	1	Esophageal squamous(110;0.198)					AATATCTTTTCCTACAGATAA	0.343																																																	0								ENSG00000186020						52	42	45					19																	37039185		1824	4071	5895	ZNF529	SO:0001583	missense	0			-	HGNC	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"Zinc fingers, C2H2-type", "-"	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.275G>A	19.37:g.37039185C>T	ENSP00000465578:p.Gly92Glu	Somatic	0	55	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	25	43.48	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G92E	ENST00000591340.1	37	c.275	CCDS54256.1	19	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938874	0.02340	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.98	-4.2	0.03823	.	.	.	.	.	T	0.12902	0.0313	N	0.10782	0.045	0.09310	N	1	.	.	.	.	.	.	T	0.35549	-0.9784	6	0.02654	T	1	.	6.2563	0.20876	0.0:0.2114:0.1486:0.64	.	.	.	.	E	92	.	ENSP00000334695:G92E	G	-	2	0	ZNF529	41731025	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.389000	0.07342	-0.708000	0.05015	0.591000	0.81541	GGA	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.343	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	protein_coding	OTTHUMT00000452730.1	C	NM_020951	-		37039185	-1	no_errors	ENST00000591340	ensembl	human	known	74_37	missense	SNP	0.000	T	T	37039185	C	T	37039185	3	4	196	1	0	0	0	0	1	0	0	0	17977	855	30	2	1420	2	ZNF529	19	37039185	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	207326	37039185	22089798	2040	15312											
ZNF790	388536	genome.wustl.edu	37	chr19	37310645	37310645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtattcccacattcttTatctccacagaatttctcac	3	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:37310645T>C	ENST00000356725.4	-	5	721	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	201					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCACATTCTTTATCTCCACAG	0.343																																																	0								ENSG00000197863						76	76	76					19																	37310645		2203	4300	6503	ZNF790	SO:0001583	missense	0			-	HGNC	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.601A>G	19.37:g.37310645T>C	ENSP00000349161:p.Lys201Glu	Somatic	0	42	0		0.52429534266604	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K201E	ENST00000356725.4	37	c.601	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968053	0.34754	.	.	ENSG00000197863	ENST00000356725	T	0.14640	2.49	2.92	0.605	0.17553	Zinc finger, C2H2 (1);	.	.	.	.	T	0.08935	0.0221	L	0.39467	1.215	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38887	-0.9640	9	0.29301	T	0.29	.	1.253	0.01986	0.1762:0.1178:0.359:0.347	.	201	Q6PG37	ZN790_HUMAN	E	201	ENSP00000349161:K201E	ENSP00000349161:K201E	K	-	1	0	ZNF790	42002485	0.000000	0.05858	0.002000	0.10522	0.186000	0.23388	-2.517000	0.00954	-0.065000	0.13021	0.260000	0.18958	AAA	-	pfscan_Znf_C2H2		0.343	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	protein_coding	OTTHUMT00000385341.2	T	NM_206894	-		37310645	-1	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	SNP	0.000	C	C	37310645	T	C	37310645	3	2	196	1	0	0	0	0	1	0	0	0	18169	1763	61	5	1313	5	ZNF790	19	37310645	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	271460	37310645	21818338	2041	15313											
ZNF570	148268	genome.wustl.edu	37	chr19	37974812	37974812	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgagactgaagaattAaccccaaagcaggattttta	8	6	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:37974812A>T	ENST00000330173.1	+	5	817	c.288A>T	c.(286-288)ttA>ttT	p.L96F	ZNF570_ENST00000586475.1_Missense_Mutation_p.L152F|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	96					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(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGAAGAATTAACCCCAAAGC	0.338																																																	0								ENSG00000171827						83	91	88					19																	37974812		2200	4299	6499	ZNF570	SO:0001583	missense	0			-	HGNC	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.288A>T	19.37:g.37974812A>T	ENSP00000331540:p.Leu96Phe	Somatic	0	86	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	50	43.18	A1L472|B4DMP1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L96F	ENST00000330173.1	37	c.288	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	A	5.025	0.190227	0.09547	.	.	ENSG00000171827	ENST00000330173	T	0.05025	3.51	4.96	2.84	0.33178	.	0.000000	0.26955	N	0.021646	T	0.04003	0.0112	N	0.25957	0.775	0.21325	N	0.999729	B	0.02656	0.0	B	0.04013	0.001	T	0.44697	-0.9311	10	0.20046	T	0.44	.	5.2859	0.15700	0.7562:0.0:0.0872:0.1566	.	96	Q96NI8	ZN570_HUMAN	F	96	ENSP00000331540:L96F	ENSP00000331540:L96F	L	+	3	2	ZNF570	42666652	0.000000	0.05858	0.126000	0.21872	0.918000	0.54935	-0.043000	0.12043	0.350000	0.24002	0.455000	0.32223	TTA	-	NULL		0.338	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	protein_coding	OTTHUMT00000109600.1	A	NM_144694	-		37974812	1	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	SNP	0.016	T	T	37974812	A	T	37974812	3	4	196	1	0	0	0	0	1	0	0	0	18009	359	13	5	302	5	ZNF570	19	37974812	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	664167	37974812	21154171	2042	15314											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38655169	38655169	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaacaccctctccagcaaCgcatccagcagccacagcga	7	18	1	0	rs564884663		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38655169C>G	ENST00000222345.6	+	15	4340	c.3831C>G	c.(3829-3831)aaC>aaG	p.N1277K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1277					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCCAGCAACGCATCCAGCA	0.617																																																	0								ENSG00000105738						86	81	82					19																	38655169		2203	4300	6503	SIPA1L3	SO:0001583	missense	0			-	HGNC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3831C>G	19.37:g.38655169C>G	ENSP00000222345:p.Asn1277Lys	Somatic	0	57	0		0.52429534266604	3	70	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	38	47.22	Q2TV87	Missense_Mutation	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.N1277K	ENST00000222345.6	37	c.3831	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645136	0.67358	.	.	ENSG00000105738	ENST00000222345	T	0.49720	0.77	4.53	1.14	0.20703	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.66297	2.02	0.41346	D	0.987332	D	0.67145	0.996	P	0.61477	0.889	T	0.56032	-0.8046	10	0.72032	D	0.01	-41.5598	7.4922	0.27469	0.0:0.5472:0.0:0.4528	.	1277	O60292	SI1L3_HUMAN	K	1277	ENSP00000222345:N1277K	ENSP00000222345:N1277K	N	+	3	2	SIPA1L3	43347009	0.039000	0.19947	0.965000	0.40720	0.988000	0.76386	-0.794000	0.04584	0.038000	0.15604	-0.145000	0.13849	AAC	-	NULL		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	protein_coding	OTTHUMT00000156294.2	C	XM_032278	-		38655169	1	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38655169	C	G	38655169	3	3	196	1	0	0	0	0	1	0	0	0	14339	535	19	4	3881	4	SIPA1L3	19	38655169	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	680357	38655169	20473814	2043	15315											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38682938	38682938	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacctggggccagagcaggaGagagacacgggagtacgtag	17	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38682938G>A	ENST00000222345.6	+	17	5093	c.4584G>A	c.(4582-4584)gaG>gaA	p.E1528E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1528					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGAGCAGGAGAGAGACACGG	0.617																																																	0								ENSG00000105738						67	58	61					19																	38682938		2203	4300	6503	SIPA1L3	SO:0001819	synonymous_variant	0			-	HGNC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4584G>A	19.37:g.38682938G>A		Somatic	0	35	0		0.52429534266604	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	Q2TV87	Silent	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E1528	ENST00000222345.6	37	c.4584	CCDS33007.1	19																																																																																			-	pfam_DUF3401		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	protein_coding	OTTHUMT00000156294.2	G	XM_032278	-		38682938	1	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	SNP	0.972	A	A	38682938	G	A	38682938	2	1	196	1	0	0	0	0	0	0	0	1	14339	933	33	2		2	SIPA1L3	19	38682938	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	27769	38682938	20446045	2044	15316											
YIF1B	90522	genome.wustl.edu	37	chr19	38796027	38796027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgagccagtacatgaGcataggctgcgccgccgcca	14	12	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38796027G>A	ENST00000339413.6	-	8	955	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	YIF1B_ENST00000392124.3_Missense_Mutation_p.L273F|YIF1B_ENST00000337679.8_3'UTR|YIF1B_ENST00000592246.1_Missense_Mutation_p.L238F|YIF1B_ENST00000592694.1_Missense_Mutation_p.L273F|YIF1B_ENST00000591784.1_Missense_Mutation_p.L273F|YIF1B_ENST00000329420.8_Missense_Mutation_p.L289F	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	304						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGTACATGAGCATAGGCTGC	0.687																																																	0								ENSG00000167645						18	21	20					19																	38796027		2198	4289	6487	YIF1B	SO:0001583	missense	0			-	HGNC	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.910C>T	19.37:g.38796027G>A	ENSP00000343435:p.Leu304Phe	Somatic	0	39	0		0.52429534266604	225	21.25	61	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP							pfam_Hrf1,pfam_Yip1	p.L304F	ENST00000339413.6	37	c.910	CCDS33010.1	19	.	.	.	.	.	.	.	.	.	.	G	9.200	1.028232	0.19512	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124	T;T;T	0.49720	0.77;0.77;0.77	4.86	2.56	0.30785	.	0.172253	0.51477	N	0.000092	T	0.14743	0.0356	N	0.01086	-1.025	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.03493	-1.1031	10	0.22109	T	0.4	-5.5597	4.4772	0.11750	0.4221:0.0:0.5779:0.0	.	273;304;301	Q5BJH7-2;Q5BJH7;Q5BJH7-3	.;YIF1B_HUMAN;.	F	304;289;273	ENSP00000343435:L304F;ENSP00000329559:L289F;ENSP00000375971:L273F	ENSP00000329559:L289F	L	-	1	0	YIF1B	43487867	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	1.462000	0.35266	1.044000	0.40200	0.462000	0.41574	CTC	-	pfam_Hrf1		0.687	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1B	protein_coding	OTTHUMT00000460511.1	G	NM_033557	-		38796027	-1	no_errors	ENST00000339413	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38796027	G	A	38796027	3	1	196	1	0	0	0	0	1	0	0	0	17483	971	34	2	38	2	YIF1B	19	38796027	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	113089	38796027	20332956	2045	15317											
RYR1	6261	genome.wustl.edu	37	chr19	38937391	38937391	+	Silent	SNP	G	G	A													gcccgctccctctggaggctGgagccactgagaatcaggta							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38937391G>A	ENST00000359596.3	+	9	783	c.783G>A	c.(781-783)ctG>ctA	p.L261L	RYR1_ENST00000355481.4_Silent_p.L261L|RYR1_ENST00000360985.3_Silent_p.L261L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	261	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	TCTGGAGGCTGGAGCCACTGA	0.602																																																	0								ENSG00000196218						38	39	38					19																	38937391		2203	4300	6503	RYR1	SO:0001819	synonymous_variant	0			-	HGNC	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.783G>A	19.37:g.38937391G>A		Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L261	ENST00000359596.3	37	c.783	CCDS33011.1	19																																																																																			-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		38937391	1	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38937391	G	A	38937391	2	1	196	1	0	0	0	0	0	0	0	1	13776	1335	47	2		2	RYR1	19	38937391	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	141364	38937391	20191592	2046	15318	360	2									
RYR1	6261	genome.wustl.edu	37	chr19	38937392	38937392	+	Missense_Mutation	SNP	G	G	A													cccgctccctctggaggctgGagccactgagaatcaggtag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38937392G>A	ENST00000359596.3	+	9	784	c.784G>A	c.(784-786)Gag>Aag	p.E262K	RYR1_ENST00000355481.4_Missense_Mutation_p.E262K|RYR1_ENST00000360985.3_Missense_Mutation_p.E262K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	262	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	CTGGAGGCTGGAGCCACTGAG	0.602																																																	0								ENSG00000196218						38	38	38					19																	38937392		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.784G>A	19.37:g.38937392G>A	ENSP00000352608:p.Glu262Lys	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E262K	ENST00000359596.3	37	c.784	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612075	0.66672	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90844	-2.74;-2.74;-2.74	4.31	4.31	0.51392	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000004	D	0.95351	0.8491	M	0.85859	2.78	0.50632	D	0.999881	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	D	0.95956	0.8958	10	0.87932	D	0	.	14.3051	0.66380	0.0:0.0:1.0:0.0	.	262;262	P21817-2;P21817	.;RYR1_HUMAN	K	262	ENSP00000352608:E262K;ENSP00000347667:E262K;ENSP00000354254:E262K	ENSP00000347667:E262K	E	+	1	0	RYR1	43629232	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.215000	0.95146	2.242000	0.73789	0.563000	0.77884	GAG	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		38937392	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38937392	G	A	38937392	3	1	196	1	0	0	0	0	1	0	0	0	13776	1175	41	2	818	2	RYR1	19	38937392	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	38937392	20191591	2047	15319	360	2									
RYR1	6261	genome.wustl.edu	37	chr19	39008190	39008190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgggcccgaggcacccCcttccgccctgcccgccggc	13	22	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39008190C>T	ENST00000359596.3	+	66	9877	c.9877C>T	c.(9877-9879)Cct>Tct	p.P3293S	RYR1_ENST00000355481.4_Missense_Mutation_p.P3293S|RYR1_ENST00000360985.3_Missense_Mutation_p.P3293S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3293					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)	CGAGGCACCCCCTTCCGCCCT	0.647																																																	0								ENSG00000196218						33	29	30					19																	39008190		2201	4298	6499	RYR1	SO:0001583	missense	0			-	HGNC	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.9877C>T	19.37:g.39008190C>T	ENSP00000352608:p.Pro3293Ser	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	26	50.94	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P3293S	ENST00000359596.3	37	c.9877	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315712	0.10789	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96619	-4.07;-4.07;-4.07	4.07	1.55	0.23275	.	.	.	.	.	D	0.92577	0.7642	L	0.44542	1.39	0.30360	N	0.783896	B;B;B	0.14805	0.0;0.004;0.011	B;B;B	0.08055	0.001;0.003;0.001	D	0.88359	0.2986	9	0.46703	T	0.11	.	7.8877	0.29659	0.1698:0.7305:0.0:0.0997	.	3293;3293;3293	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	S	3293;3293;3293;213	ENSP00000352608:P3293S;ENSP00000347667:P3293S;ENSP00000354254:P3293S	ENSP00000347667:P3293S	P	+	1	0	RYR1	43700030	0.028000	0.19301	0.921000	0.36526	0.199000	0.23934	0.140000	0.16056	0.696000	0.31696	0.205000	0.17691	CCT	-	NULL		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		39008190	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	0.986	T	T	39008190	C	T	39008190	3	4	196	1	0	0	0	0	1	0	0	0	13776	623	22	2	10139	2	RYR1	19	39008190	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	70798	39008190	20120793	2048	15320											
RYR1	6261	genome.wustl.edu	37	chr19	39013745	39013745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagatcttcatctactggtCcaagtcccacgtgagtgccc	9	14	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39013745C>T	ENST00000359596.3	+	68	10337	c.10337C>T	c.(10336-10338)tCc>tTc	p.S3446F	RYR1_ENST00000355481.4_Missense_Mutation_p.S3446F|RYR1_ENST00000360985.3_Missense_Mutation_p.S3446F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3446					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)	ATCTACTGGTCCAAGTCCCAC	0.662																																																	0								ENSG00000196218						49	48	48					19																	39013745		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.10337C>T	19.37:g.39013745C>T	ENSP00000352608:p.Ser3446Phe	Somatic	0	22	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S3446F	ENST00000359596.3	37	c.10337	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262796	0.23051	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97480	-4.39;-4.38;-4.4	2.94	1.85	0.25348	.	0.185923	0.36268	U	0.002694	D	0.96978	0.9013	M	0.77313	2.365	0.39189	D	0.962937	D;D;D	0.60160	0.987;0.987;0.978	P;P;P	0.52217	0.6;0.693;0.497	D	0.96474	0.9351	10	0.72032	D	0.01	.	11.5463	0.50696	0.0:0.6549:0.3451:0.0	.	3446;3446;3446	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	F	3446;3446;3446;366	ENSP00000352608:S3446F;ENSP00000347667:S3446F;ENSP00000354254:S3446F	ENSP00000347667:S3446F	S	+	2	0	RYR1	43705585	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.092000	0.50207	0.542000	0.28846	0.462000	0.41574	TCC	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		39013745	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39013745	C	T	39013745	3	4	196	1	0	0	0	0	1	0	0	0	13776	855	30	2	10607	2	RYR1	19	39013745	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5555	39013745	20115238	2049	15321											
RYR1	6261	genome.wustl.edu	37	chr19	39034458	39034458	+	Nonsense_Mutation	SNP	G	G	A													ctggcgcacagtcgcctatgGgacgcagtggtgggattcct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39034458G>A	ENST00000359596.3	+	87	11955	c.11955G>A	c.(11953-11955)tgG>tgA	p.W3985*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.W3980*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.W3980*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3985					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)	GTCGCCTATGGGACGCAGTGG	0.647																																																	0								ENSG00000196218						83	71	75					19																	39034458		2203	4300	6503	RYR1	SO:0001587	stop_gained	0			-	HGNC	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.11955G>A	19.37:g.39034458G>A	ENSP00000352608:p.Trp3985*	Somatic	0	25	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.W3985*	ENST00000359596.3	37	c.11955	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	54	22.437331	0.99948	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.31	4.31	0.51392	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5582	0.84512	0.0:0.0:1.0:0.0	.	.	.	.	X	3985;3980;3980	.	ENSP00000347667:W3980X	W	+	3	0	RYR1	43726298	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.376000	0.97181	2.244000	0.73946	0.491000	0.48974	TGG	-	pfam_RIH_assoc-dom		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		39034458	1	no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	39034458	G	A	39034458	4	1	196	1	0	0	0	0	0	1	0	0	13776	1241	43	2	12301	2	RYR1	19	39034458	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	20713	39034458	20094525	2050	15322	361	2									
RYR1	6261	genome.wustl.edu	37	chr19	39034459	39034459	+	Missense_Mutation	SNP	G	G	A													tggcgcacagtcgcctatggGacgcagtggtgggattcctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39034459G>A	ENST00000359596.3	+	87	11956	c.11956G>A	c.(11956-11958)Gac>Aac	p.D3986N	RYR1_ENST00000355481.4_Missense_Mutation_p.D3981N|RYR1_ENST00000360985.3_Missense_Mutation_p.D3981N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3986					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)	TCGCCTATGGGACGCAGTGGT	0.647																																																	0								ENSG00000196218						84	72	76					19																	39034459		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.11956G>A	19.37:g.39034459G>A	ENSP00000352608:p.Asp3986Asn	Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.D3986N	ENST00000359596.3	37	c.11956	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547126	0.65311	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95690	-3.78;-3.78;-3.78	4.31	4.31	0.51392	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000003	D	0.98027	0.9350	M	0.89715	3.055	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.85130	0.995;0.995;0.997	D	0.99226	1.0880	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:1.0:0.0	.	3981;3981;3986	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	3986;3981;3981	ENSP00000352608:D3986N;ENSP00000347667:D3981N;ENSP00000354254:D3981N	ENSP00000347667:D3981N	D	+	1	0	RYR1	43726299	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.376000	0.97181	2.244000	0.73946	0.491000	0.48974	GAC	-	pfam_RIH_assoc-dom		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		39034459	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39034459	G	A	39034459	3	1	196	1	0	0	0	0	1	0	0	0	13776	1174	41	2	12302	2	RYR1	19	39034459	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	39034459	20094524	2051	15323	361	2									
ACTN4	81	genome.wustl.edu	37	chr19	39214831	39214831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaccagttcaagtccaCcctgccggacgccgataggg	11	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39214831C>T	ENST00000252699.2	+	15	1803	c.1727C>T	c.(1726-1728)aCc>aTc	p.T576I	ACTN4_ENST00000424234.2_Missense_Mutation_p.T186I|ACTN4_ENST00000390009.3_Missense_Mutation_p.T357I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	576					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCAAGTCCACCCTGCCGGAC	0.657																																					Colon(168;199 1940 10254 46213 46384)												0								ENSG00000130402						57	60	59					19																	39214831		2203	4300	6503	ACTN4	SO:0001583	missense	0			-	HGNC	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1727C>T	19.37:g.39214831C>T	ENSP00000252699:p.Thr576Ile	Somatic	0	83	0		0.52429534266604	105	70.06	248	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	57	38.71	A4K467|D6PXK4|O76048	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.T576I	ENST00000252699.2	37	c.1727	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869448	0.32977	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.87547	2.89	0.58432	D	0.999999	P	0.41232	0.743	P	0.51415	0.669	T	0.74651	-0.3594	10	0.87932	D	0	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	576	O43707	ACTN4_HUMAN	I	576;186;357;12	ENSP00000252699:T576I;ENSP00000411187:T186I;ENSP00000439497:T357I;ENSP00000398393:T12I	ENSP00000252699:T576I	T	+	2	0	ACTN4	43906671	1.000000	0.71417	0.963000	0.40424	0.090000	0.18270	7.243000	0.78219	2.106000	0.64143	0.561000	0.74099	ACC	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.657	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	protein_coding	OTTHUMT00000268091.1	C		-		39214831	1	no_errors	ENST00000252699	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39214831	C	T	39214831	3	4	196	1	0	0	0	0	1	0	0	0	207	507	18	2	1785	2	ACTN4	19	39214831	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	180372	39214831	19914152	2052	15324											
SAMD4B	55095	genome.wustl.edu	37	chr19	39860580	39860580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctagtggcttccgctcccGgccagagccctcctaccatt	10	17	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39860580G>A	ENST00000314471.6	+	6	1517	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	SAMD4B_ENST00000596368.1_Missense_Mutation_p.R161Q|RN7SL566P_ENST00000467650.2_RNA|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R161Q	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCCGCTCCCGGCCAGAGCCC	0.662																																																	0								ENSG00000179134						23	21	22					19																	39860580		2203	4300	6503	SAMD4B	SO:0001583	missense	0			-	HGNC		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.482G>A	19.37:g.39860580G>A	ENSP00000317224:p.Arg161Gln	Somatic	0	20	0		0.52429534266604	10	45.45	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	A5Z0M6|Q6P194	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.R161Q	ENST00000314471.6	37	c.482	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525619	0.64860	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.18	4.15	0.48705	.	0.076321	0.51477	D	0.000098	T	0.14787	0.0357	N	0.04203	-0.255	0.34347	D	0.689381	P;P	0.40909	0.732;0.732	B;B	0.23716	0.048;0.048	T	0.25012	-1.0144	9	0.15066	T	0.55	.	11.3654	0.49668	0.0875:0.0:0.9125:0.0	.	161;161	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	Q	161	.	ENSP00000317224:R161Q	R	+	2	0	SAMD4B	44552420	0.999000	0.42202	0.998000	0.56505	0.987000	0.75469	4.077000	0.57598	1.425000	0.47237	0.655000	0.94253	CGG	-	NULL		0.662	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	protein_coding	OTTHUMT00000464467.1	G	NM_018028	-		39860580	1	no_errors	ENST00000314471	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39860580	G	A	39860580	3	1	196	1	0	0	0	0	1	0	0	0	13830	1116	39	1	488	1	SAMD4B	19	39860580	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	645749	39860580	19268403	2053	15325											
PAF1	55588	genome.wustl.edu	37	chr19	39880307	39880307	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgatgcggtaggtgtcagGattgatgagatcgatggtga	17	4	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39880307G>A	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.P79S|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.P79S|PAF1_ENST00000221265.3_Missense_Mutation_p.P89S			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGTGTCAGGATTGATGAGA	0.577																																																	0								ENSG00000006712						150	125	133					19																	39880307		2203	4300	6503	PAF1	SO:0001631	upstream_gene_variant	0			-	HGNC	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880307G>A	Exception_encountered	Somatic	0	42	0		0.52429534266604	65	18.75	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP							pfam_RNA_pol_II-assoc_Paf1	p.P89S	ENST00000599213.2	37	c.265		19	.	.	.	.	.	.	.	.	.	.	g	21.7	4.189189	0.78789	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.29	5.29	0.74685	.	0.066485	0.64402	D	0.000011	T	0.75481	0.3855	M	0.71206	2.165	0.80722	D	1	D;D	0.63046	0.981;0.992	P;D	0.70487	0.704;0.969	T	0.71151	-0.4676	9	0.24483	T	0.36	-12.4613	14.3073	0.66393	0.0:0.0:1.0:0.0	.	79;89	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	S	89;79	.	ENSP00000221265:P89S	P	-	1	0	PAF1	44572147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.644000	0.91044	2.752000	0.94435	0.558000	0.71614	CCT	-	pfam_RNA_pol_II-assoc_Paf1		0.577	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	protein_coding	OTTHUMT00000470870.1	G	XM_290829	-		39880307	-1	no_errors	ENST00000221265	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39880307	G	A	39880307	1	1	196	0	1	0	0	0	0	0	0	0	11385	1174	41	2		2	PAF1	19	39880307	5'Flank	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	19727	39880307	19248676	2054	15326											
MAP3K10	4294	genome.wustl.edu	37	chr19	40711137	40711137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccactggagtccttccaCtcgctgcaggaagactggaa	11	12	0	1	rs563640107		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:40711137C>T	ENST00000253055.3	+	4	1410	c.1122C>T	c.(1120-1122)caC>caT	p.H374H	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	374					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGTCCTTCCACTCGCTGCAGG	0.567																																																	0								ENSG00000130758						80	77	78					19																	40711137		2203	4300	6503	MAP3K10	SO:0001819	synonymous_variant	0			-	HGNC	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1122C>T	19.37:g.40711137C>T		Somatic	0	20	0		0.52429534266604	35	18.18	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q12761|Q14871	Silent	SNP							pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.H374	ENST00000253055.3	37	c.1122	CCDS12549.1	19																																																																																			-	pirsf_MAPKKK9/10/11		0.567	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	protein_coding	OTTHUMT00000462552.1	C	NM_002446	-		40711137	1	no_errors	ENST00000253055	ensembl	human	known	74_37	silent	SNP	1.000	T	T	40711137	C	T	40711137	2	4	196	1	0	0	0	0	0	0	0	1	9246	564	20	2		2	MAP3K10	19	40711137	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	830830	40711137	18417846	2055	15327											
SPTBN4	57731	genome.wustl.edu	37	chr19	41063225	41063225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccccgcctgaccacCccgcctgagccgagacccag	11	21	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41063225C>T	ENST00000352632.3	+	26	5672	c.5586C>T	c.(5584-5586)acC>acT	p.T1862T	SPTBN4_ENST00000595535.1_Silent_p.T1862T|SPTBN4_ENST00000338932.3_Silent_p.T1862T|SPTBN4_ENST00000392023.1_Silent_p.T538T|SPTBN4_ENST00000392025.1_Silent_p.T605T|SPTBN4_ENST00000598249.1_Silent_p.T1862T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1862					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTGACCACCCCGCCTGAGC	0.657																																																	0								ENSG00000160460						30	33	32					19																	41063225		2193	4282	6475	SPTBN4	SO:0001819	synonymous_variant	0			-	HGNC	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5586C>T	19.37:g.41063225C>T		Somatic	0	65	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	32	57.69	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T1862	ENST00000352632.3	37	c.5586	CCDS12559.1	19																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	C		-		41063225	1	no_errors	ENST00000352632	ensembl	human	known	74_37	silent	SNP	0.009	T	T	41063225	C	T	41063225	2	4	196	1	0	0	0	0	0	0	0	1	15128	610	22	2		2	SPTBN4	19	41063225	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	352088	41063225	18065758	2056	15328											
LTBP4	8425	genome.wustl.edu	37	chr19	41119327	41119327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagacgtgaacgagtgcctgGagggcgatttctgcttccct	13	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41119327G>A	ENST00000308370.7	+	20	2650	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E817K|LTBP4_ENST00000545697.1_Missense_Mutation_p.E337K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E847K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	884	Cys-rich.|EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGTGCCTGGAGGGCGATTT	0.667																																																	0								ENSG00000090006						28	30	29					19																	41119327		2073	4197	6270	LTBP4	SO:0001583	missense	0			-	HGNC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2650G>A	19.37:g.41119327G>A	ENSP00000311905:p.Glu884Lys	Somatic	0	38	0		0.52429534266604	10	33.33	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	37	48.61	O00508|O75412|O75413	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E884K	ENST00000308370.7	37	c.2650		19	.	.	.	.	.	.	.	.	.	.	G	35	5.514001	0.96402	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000546155	D;D;D;D	0.92048	-2.2;-2.96;-2.2;-2.2	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.40554	N	0.001079	D	0.93726	0.7995	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.76494	0.976;0.98;0.999;0.999;0.999	P;P;D;D;D	0.87578	0.626;0.714;0.998;0.998;0.998	D	0.90759	0.4663	10	0.15952	T	0.53	.	18.5659	0.91116	0.0:0.0:1.0:0.0	.	172;104;817;884;847	B7Z8L2;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	K	847;337;884;817;172	ENSP00000204005:E847K;ENSP00000441054:E337K;ENSP00000311905:E884K;ENSP00000380031:E817K	ENSP00000204005:E847K	E	+	1	0	LTBP4	45811167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.909000	0.56363	2.690000	0.91761	0.655000	0.94253	GAG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.667	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	protein_coding		G	NM_003573	-		41119327	1	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41119327	G	A	41119327	3	1	196	1	0	0	0	0	1	0	0	0	9078	1175	41	2	3021	2	LTBP4	19	41119327	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	56102	41119327	18009656	2057	15329											
LTBP4	8425	genome.wustl.edu	37	chr19	41133182	41133182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacctggcccgggcaccCgctggccctatcggtcccgg	13	20	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41133182C>T	ENST00000308370.7	+	32	4486	c.4486C>T	c.(4486-4488)Cgc>Tgc	p.R1496C	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1429C|LTBP4_ENST00000545697.1_Missense_Mutation_p.R864C|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1459C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1497					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCGGGCACCCGCTGGCCCTA	0.662																																																	0								ENSG00000090006						7	10	9					19																	41133182		1943	4082	6025	LTBP4	SO:0001583	missense	0			-	HGNC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4486C>T	19.37:g.41133182C>T	ENSP00000311905:p.Arg1496Cys	Somatic	0	33	0		0.52429534266604	305	26.15	108	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	O00508|O75412|O75413	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R1496C	ENST00000308370.7	37	c.4486		19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143263	0.37825	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.85171	-1.59;-1.95;-1.6;-1.59	5.22	-1.23	0.09465	.	0.214672	0.23457	N	0.047980	T	0.74520	0.3727	.	.	.	0.20196	N	0.999928	D;D;P;D;P;P	0.56968	0.957;0.957;0.853;0.978;0.929;0.929	B;B;B;B;B;B	0.40009	0.316;0.316;0.118;0.165;0.253;0.253	T	0.68930	-0.5279	9	0.52906	T	0.07	.	8.0388	0.30508	0.4697:0.3444:0.186:0.0	.	257;509;717;1429;1497;1459	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	C	1459;864;1496;1429;257	ENSP00000204005:R1459C;ENSP00000441054:R864C;ENSP00000311905:R1496C;ENSP00000380031:R1429C	ENSP00000204005:R1459C	R	+	1	0	LTBP4	45825022	0.012000	0.17670	0.031000	0.17742	0.810000	0.45777	0.372000	0.20467	-0.352000	0.08237	0.655000	0.94253	CGC	-	NULL		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	protein_coding		C	NM_003573	-		41133182	1	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	SNP	0.125	T	T	41133182	C	T	41133182	3	4	196	1	0	0	0	0	1	0	0	0	9078	652	23	1	4903	1	LTBP4	19	41133182	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	13855	41133182	17995801	2058	15330											
RAB4B	53916	genome.wustl.edu	37	chr19	41292580	41292580	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccctgcagagctgatgttCctggagaccagcgctctcac	11	15	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41292580C>T	ENST00000594800.1	+	6	601	c.441C>T	c.(439-441)ttC>ttT	p.F147F	RAB4B-EGLN2_ENST00000594136.1_Silent_p.F147F|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Silent_p.F147F|RAB4B-EGLN2_ENST00000601949.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	147					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCTGATGTTCCTGGAGACCA	0.602																																																	0								ENSG00000167578						69	59	62					19																	41292580		2203	4300	6503	RAB4B	SO:0001819	synonymous_variant	0			-	HGNC	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.441C>T	19.37:g.41292580C>T		Somatic	0	49	0		0.52429534266604	161	13.44	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P96S	ENST00000594800.1	37	c.286	CCDS33030.1	19	.	.	.	.	.	.	.	.	.	.	-	8.680	0.904837	0.17760	.	.	ENSG00000167578	ENST00000378307	T	0.70869	-0.52	4.29	2.09	0.27110	.	.	.	.	.	T	0.70894	0.3276	.	.	.	0.25261	N	0.989597	.	.	.	.	.	.	T	0.62501	-0.6841	6	0.87932	D	0	.	9.6262	0.39752	0.0:0.7394:0.0:0.2606	.	.	.	.	S	96	ENSP00000367557:P96S	ENSP00000367557:P96S	P	+	1	0	RAB4B	45984420	0.991000	0.36638	0.998000	0.56505	0.491000	0.33493	0.661000	0.25023	0.128000	0.18479	-1.137000	0.01932	CCT	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.602	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4B	protein_coding	OTTHUMT00000463168.1	C	NM_016154	-		41292580	1	no_errors	ENST00000378307	ensembl	human	known	74_37	missense	SNP	0.999	T	T	41292580	C	T	41292580	2	4	196	1	0	0	0	0	0	0	0	1	12955	854	30	2		2	RAB4B	19	41292580	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	159398	41292580	17836403	2059	15331											
CYP2F1	1572	genome.wustl.edu	37	chr19	41626324	41626324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagattctacggaatttcgGgatggggaagagaagcattg	14	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41626324G>A	ENST00000331105.2	+	4	479	c.407G>A	c.(406-408)gGg>gAg	p.G136E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	136					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						CGGAATTTCGGGATGGGGAAG	0.532																																																	0								ENSG00000197446						114	113	114					19																	41626324		2203	4300	6503	CYP2F1	SO:0001583	missense	0			-	HGNC	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.407G>A	19.37:g.41626324G>A	ENSP00000333534:p.Gly136Glu	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G136E	ENST00000331105.2	37	c.407	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331490	0.60853	.	.	ENSG00000197446	ENST00000331105	T	0.12984	2.63	4.25	4.25	0.50352	.	0.056208	0.64402	U	0.000001	T	0.54711	0.1875	H	0.98487	4.245	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.979	T	0.75130	-0.3426	10	0.87932	D	0	.	15.7179	0.77685	0.0:0.0:1.0:0.0	.	136;136	Q32MN5;P24903	.;CP2F1_HUMAN	E	136	ENSP00000333534:G136E	ENSP00000333534:G136E	G	+	2	0	CYP2F1	46318164	1.000000	0.71417	0.992000	0.48379	0.085000	0.17905	9.085000	0.94083	2.239000	0.73571	0.562000	0.76482	GGG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.532	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	protein_coding	OTTHUMT00000394527.2	G		-		41626324	1	no_errors	ENST00000331105	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41626324	G	A	41626324	3	1	196	1	0	0	0	0	1	0	0	0	4173	1232	43	2	417	2	CYP2F1	19	41626324	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	333744	41626324	17502659	2060	15332											
AXL	558	genome.wustl.edu	37	chr19	41765783	41765783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgataggggctccccagcaGccccagggcaggaggatggt	16	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41765783G>A	ENST00000301178.4	+	20	2849	c.2659G>A	c.(2659-2661)Gcc>Acc	p.A887T	AXL_ENST00000359092.3_Missense_Mutation_p.A878T|HNRNPUL1_ENST00000352456.3_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.A619T|HNRNPUL1_ENST00000595018.1_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	887					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCCCAGCAGCCCCAGGGCA	0.627																																																	0								ENSG00000167601						27	26	26					19																	41765783		2203	4300	6503	AXL	SO:0001583	missense	0			-	HGNC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2659G>A	19.37:g.41765783G>A	ENSP00000301178:p.Ala887Thr	Somatic	0	42	0		0.52429534266604	44	25.42	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	Q8N5L2|Q9UD27	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A887T	ENST00000301178.4	37	c.2659	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121822	0.20877	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75260	-0.92;-0.85	4.68	1.32	0.21799	.	0.924729	0.09139	N	0.843306	T	0.49081	0.1536	N	0.08118	0	0.21627	N	0.999612	B;B	0.19200	0.034;0.02	B;B	0.21708	0.036;0.016	T	0.34601	-0.9822	10	0.09338	T	0.73	-0.4514	5.4186	0.16388	0.0:0.4368:0.3734:0.1898	.	878;887	P30530-2;P30530	.;UFO_HUMAN	T	887;878	ENSP00000301178:A887T;ENSP00000351995:A878T	ENSP00000301178:A887T	A	+	1	0	AXL	46457623	0.079000	0.21365	0.990000	0.47175	0.984000	0.73092	-0.576000	0.05854	0.192000	0.20272	-0.293000	0.09583	GCC	-	NULL		0.627	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	G		-		41765783	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	SNP	0.971	A	A	41765783	G	A	41765783	3	1	196	1	0	0	0	0	1	0	0	0	1238	971	34	2	2737	2	AXL	19	41765783	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	139459	41765783	17363200	2061	15333											
TGFB1	7040	genome.wustl.edu	37	chr19	41854266	41854266	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacgcagctctgcccgggaGagcaacacgggttcaggtac	14	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41854266G>A	ENST00000221930.5	-	2	1316	c.450C>T	c.(448-450)ctC>ctT	p.L150L	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	150	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CTGCCCGGGAGAGCAACACGG	0.512																																																	0								ENSG00000105329						133	122	126					19																	41854266		2203	4300	6503	TGFB1	SO:0001819	synonymous_variant	0			-	HGNC	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"Endogenous ligands"	11766	protein-coding gene	gene with protein product	"Camurati-Engelmann disease", "prepro-transforming growth factor beta-1"	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.450C>T	19.37:g.41854266G>A		Somatic	0	55	0		0.52429534266604	872	26.95	322	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	A8K792|Q9UCG4	Silent	SNP							pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta	p.L150	ENST00000221930.5	37	c.450	CCDS33031.1	19																																																																																			-	pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb1		0.512	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB1	protein_coding	OTTHUMT00000463500.2	G		-		41854266	-1	no_errors	ENST00000221930	ensembl	human	known	74_37	silent	SNP	0.751	A	A	41854266	G	A	41854266	2	1	196	1	0	0	0	0	0	0	0	1	15823	929	33	2		2	TGFB1	19	41854266	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	88483	41854266	17274717	2062	15334											
ATP1A3	478	genome.wustl.edu	37	chr19	42482804	42482804	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcaaggtaggcattctgGaaggcctccttcatttcctc	9	12	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42482804G>A	ENST00000302102.5	-	12	1734	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ATP1A3_ENST00000543770.1_Silent_p.F539F|ATP1A3_ENST00000602133.1_Silent_p.F498F|ATP1A3_ENST00000545399.1_Silent_p.F541F	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	528					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGCATTCTGGAAGGCCTCCT	0.657																																																	0								ENSG00000105409						76	70	72					19																	42482804		2203	4300	6503	ATP1A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1584C>T	19.37:g.42482804G>A		Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	17	46.88	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.F528	ENST00000302102.5	37	c.1584	CCDS12594.1	19																																																																																			-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC		0.657	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	protein_coding	OTTHUMT00000268107.1	G	NM_152296	-		42482804	-1	no_errors	ENST00000302102	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42482804	G	A	42482804	2	1	196	1	0	0	0	0	0	0	0	1	1130	1165	41	2		2	ATP1A3	19	42482804	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	628538	42482804	16646179	2063	15335											
GRIK5	2901	genome.wustl.edu	37	chr19	42566691	42566691	+	Missense_Mutation	SNP	G	G	A													ggggtagttgaaggacttgaGgattcgggagaccgccaagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42566691G>A	ENST00000262895.3	-	4	456	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	GRIK5_ENST00000301218.4_Missense_Mutation_p.L153F|GRIK5_ENST00000593562.1_Missense_Mutation_p.L153F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	153					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AAGGACTTGAGGATTCGGGAG	0.587																																																	0								ENSG00000105737						88	86	86					19																	42566691		2203	4300	6503	GRIK5	SO:0001583	missense	0			-	HGNC		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.457C>T	19.37:g.42566691G>A	ENSP00000262895:p.Leu153Phe	Somatic	0	41	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	Q8WWG8	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L153F	ENST00000262895.3	37	c.457	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895922	0.72639	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.85339	-1.97;-1.97	5.19	4.16	0.48862	Extracellular ligand-binding receptor (1);	0.170093	0.38272	N	0.001745	D	0.90017	0.6883	M	0.63428	1.95	0.37362	D	0.911265	D	0.89917	1.0	D	0.81914	0.995	D	0.91836	0.5479	10	0.87932	D	0	.	11.4463	0.50125	0.0882:0.0:0.9118:0.0	.	153	Q16478	GRIK5_HUMAN	F	153	ENSP00000262895:L153F;ENSP00000301218:L153F	ENSP00000262895:L153F	L	-	1	0	GRIK5	47258531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.852000	0.69488	1.200000	0.43188	0.551000	0.68910	CTC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.587	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	protein_coding	OTTHUMT00000463453.1	G		-		42566691	-1	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42566691	G	A	42566691	3	1	196	1	0	0	0	0	1	0	0	0	6779	1000	35	2	2549	2	GRIK5	19	42566691	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	83887	42566691	16562292	2064	15336	362	2									
GRIK5	2901	genome.wustl.edu	37	chr19	42566692	42566692	+	Silent	SNP	G	G	A													gggtagttgaaggacttgagGattcgggagaccgccaagct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42566692G>A	ENST00000262895.3	-	4	455	c.456C>T	c.(454-456)atC>atT	p.I152I	GRIK5_ENST00000301218.4_Silent_p.I152I|GRIK5_ENST00000593562.1_Silent_p.I152I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	152					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AGGACTTGAGGATTCGGGAGA	0.582																																																	0								ENSG00000105737						89	87	87					19																	42566692		2203	4300	6503	GRIK5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.456C>T	19.37:g.42566692G>A		Somatic	0	41	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	54	32.50	Q8WWG8	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I152	ENST00000262895.3	37	c.456	CCDS12595.1	19																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.582	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	protein_coding	OTTHUMT00000463453.1	G		-		42566692	-1	no_errors	ENST00000301218	ensembl	human	known	74_37	silent	SNP	1.000	A	A	42566692	G	A	42566692	2	1	196	1	0	0	0	0	0	0	0	1	6779	1164	41	2		2	GRIK5	19	42566692	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	42566692	16562291	2065	15337	362	2									
CIC	23152	genome.wustl.edu	37	chr19	42794778	42794778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcagtcatcgcggccCctcccagcggaggaggaaac	12	17	2	0	rs138450756	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42794778C>T	ENST00000575354.2	+	10	1898	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	CIC_ENST00000572681.2_Missense_Mutation_p.P1529S|CIC_ENST00000160740.3_Missense_Mutation_p.P620S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	620	Pro-rich.				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)				CATCGCGGCCCCTCCCAGCGG	0.682			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0								ENSG00000079432	C	SER/PRO	0,4406		0,0,2203	41	47	45		1858	3.8	1	19	dbSNP_134	45	2,8592		0,2,4295	no	missense	CIC	NM_015125.3	74	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	620/1609	42794778	2,12998	2203	4297	6500	CIC	SO:0001583	missense	0			-	HGNC	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.1858C>T	19.37:g.42794778C>T	ENSP00000458663:p.Pro620Ser	Somatic	0	24	0		0.52429534266604	9	55	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P620S	ENST00000575354.2	37	c.1858	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367477	0.42003	0.0	2.33E-4	ENSG00000079432	ENST00000160740	.	.	.	4.89	3.84	0.44239	.	.	.	.	.	T	0.44561	0.1299	N	0.08118	0	0.34295	D	0.683707	D	0.63880	0.993	D	0.70227	0.968	T	0.56926	-0.7898	8	0.87932	D	0	-8.4078	8.4552	0.32895	0.0:0.8941:0.0:0.1059	.	620	Q96RK0	CIC_HUMAN	S	620	.	ENSP00000160740:P620S	P	+	1	0	CIC	47486618	0.958000	0.32768	0.971000	0.41717	0.925000	0.55904	2.448000	0.44926	2.432000	0.82394	0.491000	0.48974	CCT	-	NULL		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	protein_coding	OTTHUMT00000438532.2	C		rs138450756		42794778	1	no_errors	ENST00000575354	ensembl	human	known	74_37	missense	SNP	0.955	T	T	42794778	C	T	42794778	3	4	196	1	0	0	0	0	1	0	0	0	3426	623	22	2	1896	2	CIC	19	42794778	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	228086	42794778	16334205	2066	15338											
PSG1	5669	genome.wustl.edu	37	chr19	43376179	43376179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaagttgctgctggagatgGagggcttaggagtctccact	14	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:43376179G>A	ENST00000436291.2	-	3	565	c.449C>T	c.(448-450)tCc>tTc	p.S150F	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.S150F|PSG1_ENST00000244296.2_Missense_Mutation_p.S150F|PSG1_ENST00000312439.6_Missense_Mutation_p.S150F|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	150	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTGGAGATGGAGGGCTTAGG	0.502																																																	0								ENSG00000231924						154	147	149					19																	43376179		2201	4299	6500	PSG1	SO:0001583	missense	0			-	HGNC		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.449C>T	19.37:g.43376179G>A	ENSP00000413041:p.Ser150Phe	Somatic	0	55	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	27	50.91	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S150F	ENST00000436291.2	37	c.449	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	1.679	-0.507005	0.04231	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12361	2.69;2.69;2.69	1.46	-2.93	0.05598	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10895	0.0266	N	0.12527	0.23	0.09310	N	1	P;P;P;B;B;B;P	0.48407	0.825;0.825;0.669;0.13;0.014;0.104;0.91	P;B;P;B;B;B;P	0.54965	0.765;0.42;0.615;0.171;0.099;0.26;0.604	T	0.13282	-1.0515	9	0.62326	D	0.03	.	2.59	0.04840	0.2107:0.0:0.3872:0.4021	.	150;150;150;150;150;150;150	O75238;P11464-4;P11464;P11464-3;Q9UPK8;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	F	150	ENSP00000413041:S150F;ENSP00000308970:S150F;ENSP00000244296:S150F	ENSP00000244296:S150F	S	-	2	0	PSG1	48068019	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	-2.527000	0.00946	-1.502000	0.01814	0.184000	0.17185	TCC	-	pfscan_Ig-like_dom		0.502	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	protein_coding	OTTHUMT00000321426.1	G		-		43376179	-1	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	SNP	0.000	A	A	43376179	G	A	43376179	3	1	196	1	0	0	0	0	1	0	0	0	12658	1174	41	2	879	2	PSG1	19	43376179	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	581401	43376179	15752804	2067	15339											
PHLDB3	653583	genome.wustl.edu	37	chr19	43982237	43982237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggtcataatagacttcctCaatggcctggaagtagatga	11	7	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:43982237C>T	ENST00000292140.5	-	15	2110	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	584	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TAGACTTCCTCAATGGCCTGG	0.498																																																	0								ENSG00000176531						109	107	108					19																	43982237		1999	4186	6185	PHLDB3	SO:0001583	missense	0			-	HGNC		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1750G>A	19.37:g.43982237C>T	ENSP00000292140:p.Glu584Lys	Somatic	0	62	0		0.52429534266604	12	36.84	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	50	34.21	Q8N7Z4	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E584K	ENST00000292140.5	37	c.1750	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	C	32	5.107797	0.94292	.	.	ENSG00000176531	ENST00000292140	T	0.52295	0.67	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000011	T	0.63931	0.2553	L	0.52905	1.665	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.67484	-0.5659	10	0.87932	D	0	.	15.3614	0.74478	0.0:1.0:0.0:0.0	.	254;584	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	K	584	ENSP00000292140:E584K	ENSP00000292140:E584K	E	-	1	0	PHLDB3	48674077	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.017000	0.76399	2.419000	0.82065	0.555000	0.69702	GAG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	protein_coding	OTTHUMT00000319643.2	C		-		43982237	-1	no_errors	ENST00000292140	ensembl	human	known	74_37	missense	SNP	0.999	T	T	43982237	C	T	43982237	3	4	196	1	0	0	0	0	1	0	0	0	11855	835	29	2	180	2	PHLDB3	19	43982237	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	606058	43982237	15146746	2068	15340											
CADM4	199731	genome.wustl.edu	37	chr19	44131056	44131056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccggacctccaccacagGattctctggggccactgccg	10	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44131056G>A	ENST00000222374.2	-	4	427	c.379C>T	c.(379-381)Cct>Tct	p.P127S	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	127	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TCCACCACAGGATTCTCTGGG	0.657																																																	0								ENSG00000105767						26	29	28					19																	44131056		2203	4295	6498	CADM4	SO:0001583	missense	0			-	HGNC	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.379C>T	19.37:g.44131056G>A	ENSP00000222374:p.Pro127Ser	Somatic	0	81	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	76	20.00	B2R7L5|Q9Y4A4	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.P127S	ENST00000222374.2	37	c.379	CCDS12627.1	19	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955293	0.92726	.	.	ENSG00000105767	ENST00000222374	D	0.89270	-2.49	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.70275	2.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.92576	0.6070	10	0.36615	T	0.2	.	17.1501	0.86775	0.0:0.0:1.0:0.0	.	127	Q8NFZ8	CADM4_HUMAN	S	127	ENSP00000222374:P127S	ENSP00000222374:P127S	P	-	1	0	CADM4	48822896	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.922000	0.70036	2.647000	0.89833	0.591000	0.81541	CCT	-	pfscan_Ig-like_dom		0.657	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	protein_coding	OTTHUMT00000463352.1	G	NM_145296	-		44131056	-1	no_errors	ENST00000222374	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44131056	G	A	44131056	3	1	196	1	0	0	0	0	1	0	0	0	2571	1174	41	2	811	2	CADM4	19	44131056	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	148819	44131056	14997927	2069	15341											
ZNF155	7711	genome.wustl.edu	37	chr19	44501414	44501414	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactttagccgggccTcaagtattttgaatcataag	10	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44501414T>A	ENST00000270014.2	+	5	1533	c.1405T>A	c.(1405-1407)Tca>Aca	p.S469T	ZNF155_ENST00000590615.1_Missense_Mutation_p.S469T|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.S480T	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	469					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TAGCCGGGCCTCAAGTATTTT	0.438																																					NSCLC(61;554 1277 20909 42067 42312)												0								ENSG00000204920						78	84	82					19																	44501414		2203	4300	6503	ZNF155	SO:0001583	missense	0			-	HGNC	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1405T>A	19.37:g.44501414T>A	ENSP00000270014:p.Ser469Thr	Somatic	0	70	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	77	15.38	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S469T	ENST00000270014.2	37	c.1405	CCDS12634.1	19	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329444	0.41197	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.36340	1.26;1.26	2.79	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41789	0.1174	L	0.54323	1.7	0.09310	N	1	P;D	0.55385	0.873;0.971	B;P	0.54856	0.41;0.762	T	0.22208	-1.0223	9	0.62326	D	0.03	.	4.4838	0.11780	0.1932:0.0:0.1987:0.6082	.	480;469	B4DM95;Q12901	.;ZN155_HUMAN	T	480;469	ENSP00000385163:S480T;ENSP00000270014:S469T	ENSP00000270014:S469T	S	+	1	0	ZNF155	49193254	0.000000	0.05858	0.002000	0.10522	0.118000	0.20060	-1.923000	0.01567	0.264000	0.21851	0.379000	0.24179	TCA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	protein_coding	OTTHUMT00000460074.1	T	NM_003445	-		44501414	1	no_errors	ENST00000270014	ensembl	human	known	74_37	missense	SNP	0.000	A	A	44501414	T	A	44501414	3	1	196	1	0	0	0	0	1	0	0	0	17743	1551	54	5	1419	5	ZNF155	19	44501414	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	370358	44501414	14627569	2070	15342											
ZNF230	7773	genome.wustl.edu	37	chr19	44512953	44512953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttataggaggcagtgacCttcaaggatgtggctgtgtt	14	5	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44512953C>T	ENST00000429154.2	+	3	255	c.27C>T	c.(25-27)acC>acT	p.T9T	ZNF230_ENST00000585632.1_Silent_p.T9T	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	9	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)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGGCAGTGACCTTCAAGGATG	0.522																																					GBM(175;914 2069 22996 47111 52600)												0								ENSG00000159882						271	239	250					19																	44512953		2203	4300	6503	ZNF230	SO:0001819	synonymous_variant	0			-	HGNC	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.27C>T	19.37:g.44512953C>T		Somatic	0	108	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	77	25.71	O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T9	ENST00000429154.2	37	c.27	CCDS33044.1	19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	protein_coding	OTTHUMT00000460456.1	C		-		44512953	1	no_errors	ENST00000429154	ensembl	human	known	74_37	silent	SNP	0.567	T	T	44512953	C	T	44512953	2	4	196	1	0	0	0	0	0	0	0	1	17791	668	24	2		2	ZNF230	19	44512953	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	11539	44512953	14616030	2071	15343											
ZNF234	10780	genome.wustl.edu	37	chr19	44660468	44660468	+	Nonsense_Mutation	SNP	G	G	A													acgacatgaagagctttactGggggcaaatctggaaacaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44660468G>A	ENST00000426739.2	+	6	557	c.299G>A	c.(298-300)tGg>tAg	p.W100*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.W100*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	100	KRNB.				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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGCTTTACTGGGGGCAAATC	0.453																																																	0								ENSG00000263002						89	91	91					19																	44660468		1992	4210	6202	ZNF234	SO:0001587	stop_gained	0			-	HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.299G>A	19.37:g.44660468G>A	ENSP00000400878:p.Trp100*	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W100*	ENST00000426739.2	37	c.299	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614377	0.87359	.	.	ENSG00000167380	ENST00000426739	.	.	.	3.9	0.438	0.16560	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.6558	0.17642	0.1947:0.1622:0.6431:0.0	.	.	.	.	X	100	.	ENSP00000400878:W100X	W	+	2	0	ZNF226	49352308	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.666000	0.05280	0.085000	0.17107	-0.218000	0.12543	TGG	-	NULL		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	G		-		44660468	1	no_errors	ENST00000426739	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	44660468	G	A	44660468	4	1	196	1	0	0	0	0	0	1	0	0	17794	1357	47	2	313	2	ZNF234	19	44660468	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	147515	44660468	14468515	2072	15344	363	2									
ZNF234	10780	genome.wustl.edu	37	chr19	44660469	44660469	+	Nonsense_Mutation	SNP	G	G	A													cgacatgaagagctttactgGgggcaaatctggaaacagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44660469G>A	ENST00000426739.2	+	6	558	c.300G>A	c.(298-300)tgG>tgA	p.W100*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.W100*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	100	KRNB.				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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGCTTTACTGGGGGCAAATCT	0.453																																																	0								ENSG00000263002						89	91	90					19																	44660469		1993	4209	6202	ZNF234	SO:0001587	stop_gained	0			-	HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.300G>A	19.37:g.44660469G>A	ENSP00000400878:p.Trp100*	Somatic	0	51	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W100*	ENST00000426739.2	37	c.300	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242199	0.79912	.	.	ENSG00000167380	ENST00000426739	.	.	.	3.9	-2.47	0.06442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.4468	0.11602	0.0:0.4154:0.1733:0.4114	.	.	.	.	X	100	.	ENSP00000400878:W100X	W	+	3	0	ZNF226	49352309	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-1.486000	0.02312	-0.434000	0.07275	-1.058000	0.02302	TGG	-	NULL		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	G		-		44660469	1	no_errors	ENST00000426739	ensembl	human	known	74_37	nonsense	SNP	0.000	A	A	44660469	G	A	44660469	4	1	196	1	0	0	0	0	0	1	0	0	17794	1241	43	2	314	2	ZNF234	19	44660469	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	44660469	14468514	2073	15345	363	2									
ZNF233	353355	genome.wustl.edu	37	chr19	44777825	44777825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcagagagtcagcacaGgagagaacctctacagatgt	10	10	4	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44777825G>A	ENST00000391958.2	+	5	1139	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.G320R|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	338					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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGTCAGCACAGGAGAGAACCT	0.502																																																	0								ENSG00000159915						82	76	78					19																	44777825		2203	4300	6503	ZNF233	SO:0001583	missense	0			-	HGNC	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1012G>A	19.37:g.44777825G>A	ENSP00000375820:p.Gly338Arg	Somatic	0	39	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G338R	ENST00000391958.2	37	c.1012	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	30	5.051838	0.93793	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.20738	2.05;2.05	4.45	4.45	0.53987	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37073	0.0990	L	0.46819	1.47	0.43390	D	0.9955	D	0.76494	0.999	P	0.61722	0.893	T	0.21552	-1.0242	9	0.87932	D	0	-2.474	16.217	0.82237	0.0:0.0:1.0:0.0	.	338	A6NK53	ZN233_HUMAN	R	320;338;259	ENSP00000334957:G320R;ENSP00000375820:G338R	ENSP00000280305:G259R	G	+	1	0	ZNF233	49469665	0.993000	0.37304	0.496000	0.27539	0.311000	0.27955	3.458000	0.53014	2.181000	0.69327	0.609000	0.83330	GGA	-	NULL		0.502	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	protein_coding	OTTHUMT00000460737.1	G	NM_181756	-		44777825	1	no_errors	ENST00000391958	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44777825	G	A	44777825	3	1	196	1	0	0	0	0	1	0	0	0	17793	1001	35	2	1026	2	ZNF233	19	44777825	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	117356	44777825	14351158	2074	15346											
ZNF233	353355	genome.wustl.edu	37	chr19	44778226	44778226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaaatcttcaagcccatcaGagaatccacactggagagaa	7	11	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44778226G>A	ENST00000391958.2	+	5	1540	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.Q453Q|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	471					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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AAGCCCATCAGAGAATCCACA	0.453																																																	0								ENSG00000159915						55	63	61					19																	44778226		2203	4300	6503	ZNF233	SO:0001819	synonymous_variant	0			-	HGNC	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1413G>A	19.37:g.44778226G>A		Somatic	0	43	0		0.52429534266604	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	B2RN78|B2RN79|Q86WL8	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q471	ENST00000391958.2	37	c.1413	CCDS33047.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	protein_coding	OTTHUMT00000460737.1	G	NM_181756	-		44778226	1	no_errors	ENST00000391958	ensembl	human	known	74_37	silent	SNP	0.950	A	A	44778226	G	A	44778226	2	1	196	1	0	0	0	0	0	0	0	1	17793	933	33	2		2	ZNF233	19	44778226	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	401	44778226	14350757	2075	15347											
CEACAM20	125931	genome.wustl.edu	37	chr19	45016987	45016987	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggtctcatgactgggGtccttctgttgttttccttg	12	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45016987G>T	ENST00000454753.1	-	0	1731							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CATGACTGGGGTCCTTCTGTT	0.562											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000176395						103	108	106					19																	45016987		1956	4149	6105	CEACAM20			0			-	HGNC	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016987G>T		Somatic	0	43	0	928	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.82		RNA	SNP							-	NULL	ENST00000454753.1	37	NULL		19																																																																																			-	-		0.562	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	processed_transcript	OTTHUMT00000323032.1	G	NM_198444	-		45016987	-1	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	SNP	0.000	T	T	45016987	G	T	45016987	1	4	196	0	1	0	0	0	0	0	0	0	3193	1261	44	3		3	CEACAM20	19	45016987	RNA	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	238761	45016987	14111996	2076	15348											
CEACAM16	388551	genome.wustl.edu	37	chr19	45211202	45211202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaggacgtaacactgaCcgtgcagggctaccccaagg	14	13	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45211202C>T	ENST00000405314.2	+	5	1107	c.1010C>T	c.(1009-1011)aCc>aTc	p.T337I	CEACAM16_ENST00000587331.1_Missense_Mutation_p.T337I|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	337					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GTAACACTGACCGTGCAGGGC	0.672																																																	0								ENSG00000213892						16	18	17					19																	45211202		2154	4239	6393	CEACAM16	SO:0001583	missense	0			-	HGNC		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1010C>T	19.37:g.45211202C>T	ENSP00000385576:p.Thr337Ile	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	A7LI12	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T337I	ENST00000405314.2	37	c.1010	CCDS54278.1	19	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940532	0.73557	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.67171	-0.25	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64238	0.2580	L	0.27053	0.805	0.34263	D	0.68008	D	0.53312	0.959	P	0.50049	0.629	T	0.73754	-0.3883	9	0.56958	D	0.05	-32.9158	15.7789	0.78243	0.0:1.0:0.0:0.0	.	396	Q2WEN9	CEA16_HUMAN	I	402;337	ENSP00000385576:T337I	ENSP00000379974:T402I	T	+	2	0	CEACAM16	49903042	0.991000	0.36638	0.955000	0.39395	0.704000	0.40688	3.998000	0.57024	2.788000	0.95919	0.650000	0.86243	ACC	-	pfam_Ig_V-set,smart_Ig_sub		0.672	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	protein_coding		C	XM_371177	-		45211202	1	no_errors	ENST00000405314	ensembl	human	known	74_37	missense	SNP	0.991	T	T	45211202	C	T	45211202	3	4	196	1	0	0	0	0	1	0	0	0	3190	507	18	2	1028	2	CEACAM16	19	45211202	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	194215	45211202	13917781	2077	15349											
PPP1R13L	10848	genome.wustl.edu	37	chr19	45895455	45895455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgggcaccgactgtgcctCcggtggcagtgctggctgca	15	14	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45895455C>T	ENST00000418234.2	-	8	1576	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E500K	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	500	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GACTGTGCCTCCGGTGGCAGT	0.672																																					Pancreas(61;1447 1663 31419 50578)												0								ENSG00000104881						21	22	22					19																	45895455		2199	4296	6495	PPP1R13L	SO:0001583	missense	0			-	HGNC	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1498G>A	19.37:g.45895455C>T	ENSP00000403902:p.Glu500Lys	Somatic	0	52	0		0.52429534266604	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.E500K	ENST00000418234.2	37	c.1498	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618161	0.66787	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58210	0.35;0.35	5.0	5.0	0.66597	.	0.065117	0.64402	D	0.000007	T	0.52677	0.1749	N	0.19112	0.55	0.43000	D	0.994517	D;D	0.61080	0.989;0.978	P;P	0.58331	0.837;0.646	T	0.54022	-0.8355	10	0.42905	T	0.14	.	14.2009	0.65705	0.0:1.0:0.0:0.0	.	500;79	Q8WUF5;A7YME7	IASPP_HUMAN;.	K	500;500;74	ENSP00000403902:E500K;ENSP00000354218:E500K	ENSP00000221478:E74K	E	-	1	0	PPP1R13L	50587295	0.993000	0.37304	0.938000	0.37757	0.906000	0.53458	3.199000	0.51043	2.492000	0.84095	0.555000	0.69702	GAG	-	NULL		0.672	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	protein_coding	OTTHUMT00000457586.1	C	NM_006663	-		45895455	-1	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	SNP	0.986	T	T	45895455	C	T	45895455	3	4	196	1	0	0	0	0	1	0	0	0	12363	864	30	2	1012	2	PPP1R13L	19	45895455	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	684253	45895455	13233528	2078	15350											
PPP1R13L	10848	genome.wustl.edu	37	chr19	45899667	45899667	+	Missense_Mutation	SNP	G	G	A													cagactcgttccaggctttcGgaggccgccggcgcagcgtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45899667G>A	ENST00000418234.2	-	5	818	c.740C>T	c.(739-741)cCg>cTg	p.P247L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P247L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	247	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCAGGCTTTCGGAGGCCGCCG	0.657																																					Pancreas(61;1447 1663 31419 50578)												0								ENSG00000104881						54	59	57					19																	45899667		2203	4300	6503	PPP1R13L	SO:0001583	missense	0			-	HGNC	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.740C>T	19.37:g.45899667G>A	ENSP00000403902:p.Pro247Leu	Somatic	0	96	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	105	13.22	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P247L	ENST00000418234.2	37	c.740	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353894	0.24512	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58210	0.35;0.35	4.31	4.31	0.51392	.	0.272597	0.36591	N	0.002504	T	0.53238	0.1784	N	0.12182	0.205	0.45704	D	0.998612	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.92	T	0.59161	-0.7506	10	0.56958	D	0.05	.	12.1596	0.54098	0.0:0.0:1.0:0.0	.	247;247	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	L	247	ENSP00000403902:P247L;ENSP00000354218:P247L	ENSP00000354218:P247L	P	-	2	0	PPP1R13L	50591507	0.966000	0.33281	0.998000	0.56505	0.116000	0.19942	0.734000	0.26101	2.238000	0.73509	0.561000	0.74099	CCG	-	NULL		0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	protein_coding	OTTHUMT00000457586.1	G	NM_006663	-		45899667	-1	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	SNP	0.996	A	A	45899667	G	A	45899667	3	1	196	1	0	0	0	0	1	0	0	0	12363	1116	39	1	1782	1	PPP1R13L	19	45899667	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4212	45899667	13229316	2079	15351	364	2									
PPP1R13L	10848	genome.wustl.edu	37	chr19	45899668	45899668	+	Missense_Mutation	SNP	G	G	A													agactcgttccaggctttcgGaggccgccggcgcagcgtca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45899668G>A	ENST00000418234.2	-	5	817	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P247S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	247	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGGCTTTCGGAGGCCGCCGG	0.657																																					Pancreas(61;1447 1663 31419 50578)												0								ENSG00000104881						53	59	57					19																	45899668		2203	4300	6503	PPP1R13L	SO:0001583	missense	0			-	HGNC	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.739C>T	19.37:g.45899668G>A	ENSP00000403902:p.Pro247Ser	Somatic	0	92	0		0.52429534266604	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	104	13.33	Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P247S	ENST00000418234.2	37	c.739	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	6.631	0.484950	0.12641	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.56941	0.43;0.43	4.31	4.31	0.51392	.	0.272597	0.36591	N	0.002504	T	0.50565	0.1623	N	0.12182	0.205	0.31226	N	0.696891	D;B	0.89917	1.0;0.384	D;B	0.87578	0.998;0.242	T	0.48670	-0.9015	10	0.17832	T	0.49	.	12.1596	0.54098	0.0:0.0:1.0:0.0	.	247;247	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	S	247	ENSP00000403902:P247S;ENSP00000354218:P247S	ENSP00000354218:P247S	P	-	1	0	PPP1R13L	50591508	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	6.011000	0.70760	2.238000	0.73509	0.561000	0.74099	CCG	-	NULL		0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	protein_coding	OTTHUMT00000457586.1	G	NM_006663	-		45899668	-1	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45899668	G	A	45899668	3	1	196	1	0	0	0	0	1	0	0	0	12363	1174	41	2	1783	2	PPP1R13L	19	45899668	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	45899668	13229315	2080	15352	364	2									
FBXO46	23403	genome.wustl.edu	37	chr19	46216114	46216114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggaccgccgttcagatcCcacccccttggccggtccac	9	20	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46216114C>T	ENST00000317683.3	-	2	773	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	214										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGTTCAGATCCCACCCCCTTG	0.692																																																	0								ENSG00000177051						20	23	22					19																	46216114		2005	4143	6148	FBXO46	SO:0001583	missense	0			-	HGNC	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.640G>A	19.37:g.46216114C>T	ENSP00000410007:p.Gly214Arg	Somatic	0	55	0		0.52429534266604	14	26.32	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	48	22.58		Missense_Mutation	SNP							superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.G214R	ENST00000317683.3	37	c.640	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573329	0.28092	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	T	0.19846	0.0477	N	0.08118	0	0.23043	N	0.998387	B	0.27882	0.192	B	0.27076	0.076	T	0.08086	-1.0739	8	0.56958	D	0.05	-13.2192	8.1063	0.30887	0.0:0.8929:0.0:0.1071	.	214	Q6PJ61	FBX46_HUMAN	R	214	.	ENSP00000410007:G214R	G	-	1	0	FBXO46	50907954	0.527000	0.26306	0.951000	0.38953	0.079000	0.17450	2.144000	0.42197	2.278000	0.76064	0.563000	0.77884	GGA	-	NULL		0.692	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	protein_coding	OTTHUMT00000459661.1	C	XM_371179	-		46216114	-1	no_errors	ENST00000317683	ensembl	human	known	74_37	missense	SNP	0.714	T	T	46216114	C	T	46216114	3	4	196	1	0	0	0	0	1	0	0	0	5757	632	22	2	1175	2	FBXO46	19	46216114	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	316446	46216114	12912869	2081	15353											
FBXO46	23403	genome.wustl.edu	37	chr19	46216306	46216306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaggggggccctcccGgccccctgggtcaggaggag	18	14	1	0	rs377664802		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46216306G>A	ENST00000317683.3	-	2	581	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	150										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCCCTCCCGGCCCCCTGGG	0.701																																																	0								ENSG00000177051		TRP/ARG	0,3664		0,0,1832	6	8	7		448	1.9	0.5	19		7	2,8004		0,2,4001	no	missense	FBXO46	NM_001080469.1	101	0,2,5833	AA,AG,GG		0.025,0.0,0.0171	possibly-damaging	150/604	46216306	2,11668	1832	4003	5835	FBXO46	SO:0001583	missense	0			-	HGNC	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.448C>T	19.37:g.46216306G>A	ENSP00000410007:p.Arg150Trp	Somatic	0	54	0		0.52429534266604	12	25	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	83	21.70		Missense_Mutation	SNP							superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R150W	ENST00000317683.3	37	c.448	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	g	3.130	-0.178618	0.06380	0.0	2.5E-4	ENSG00000177051	ENST00000317683	.	.	.	4.24	1.92	0.25849	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	P	0.44281	0.831	B	0.33042	0.157	T	0.08207	-1.0733	8	0.40728	T	0.16	-0.0091	7.0387	0.25008	0.0:0.1904:0.613:0.1966	.	150	Q6PJ61	FBX46_HUMAN	W	150	.	ENSP00000410007:R150W	R	-	1	2	FBXO46	50908146	0.605000	0.26941	0.455000	0.27031	0.002000	0.02628	-0.034000	0.12225	0.988000	0.38734	-0.310000	0.09108	CGG	-	NULL		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	protein_coding	OTTHUMT00000459661.1	G	XM_371179	-		46216306	-1	no_errors	ENST00000317683	ensembl	human	known	74_37	missense	SNP	0.093	A	A	46216306	G	A	46216306	3	1	196	1	0	0	0	0	1	0	0	0	5757	1115	39	1	1367	1	FBXO46	19	46216306	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	192	46216306	12912677	2082	15354											
HIF3A	64344	genome.wustl.edu	37	chr19	46832653	46832653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccctgctaccccgctggGggagtgacccccggctgagc	13	18	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46832653G>A	ENST00000377670.4	+	12	1661	c.1630G>A	c.(1630-1632)Ggg>Agg	p.G544R	HIF3A_ENST00000244303.6_Missense_Mutation_p.G475R|HIF3A_ENST00000300862.3_Missense_Mutation_p.G542R|HIF3A_ENST00000600383.1_Missense_Mutation_p.G475R|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000339613.2_Missense_Mutation_p.G488R|HIF3A_ENST00000420102.2_Missense_Mutation_p.G493R|AC007193.10_ENST00000596807.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	544	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACCCCGCTGGGGGAGTGACCC	0.687																																																	0								ENSG00000124440						19	19	19					19																	46832653		2202	4296	6498	HIF3A	SO:0001583	missense	0			-	HGNC	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1630G>A	19.37:g.46832653G>A	ENSP00000366898:p.Gly544Arg	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP							pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.G544R	ENST00000377670.4	37	c.1630	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843723	0.51164	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.65178	0.61;-0.14;0.49;0.61;-0.14	4.54	4.54	0.55810	.	0.000000	0.41712	D	0.000824	T	0.64227	0.2579	L	0.27053	0.805	0.34631	D	0.719594	D;D;D;D;D;D	0.76494	0.999;0.997;0.998;0.997;0.997;0.997	D;D;D;P;P;P	0.74023	0.982;0.916;0.943;0.879;0.879;0.879	T	0.65162	-0.6235	10	0.15499	T	0.54	.	13.18	0.59649	0.0:0.0:1.0:0.0	.	493;475;542;488;544;544	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	R	544;544;475;488;488;542;493	ENSP00000366898:G544R;ENSP00000244303:G475R;ENSP00000341877:G488R;ENSP00000300862:G542R;ENSP00000407771:G493R	ENSP00000244302:G544R	G	+	1	0	HIF3A	51524493	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.914000	0.56401	2.252000	0.74401	0.655000	0.94253	GGG	-	NULL		0.687	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	protein_coding	OTTHUMT00000280556.3	G		-		46832653	1	no_errors	ENST00000377670	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46832653	G	A	46832653	3	1	196	1	0	0	0	0	1	0	0	0	7107	1232	43	2	1700	2	HIF3A	19	46832653	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	616347	46832653	12296330	2083	15355											
PPP5C	5536	genome.wustl.edu	37	chr19	46879824	46879824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactgcaccggaaatgtgCctaccaggtaatgcatctgt	10	10	1	0	rs199770924		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46879824C>T	ENST00000012443.4	+	4	729	c.626C>T	c.(625-627)gCc>gTc	p.A209V	PPP5C_ENST00000391919.1_Missense_Mutation_p.A103V	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	209	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CGGAAATGTGCCTACCAGGTA	0.547																																																	0								ENSG00000011485						101	86	91					19																	46879824		2203	4300	6503	PPP5C	SO:0001583	missense	0			GMAF=0	HGNC		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.626C>T	19.37:g.46879824C>T	ENSP00000012443:p.Ala209Val	Somatic	0	55	0		0.52429534266604	63	4.55	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	49	26.87	Q16722|Q53XV2	Missense_Mutation	SNP							pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.A209V	ENST00000012443.4	37	c.626	CCDS12684.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.16	2.153360	0.38021	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.40225	1.04;1.04	4.1	4.1	0.47936	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Serine/threonine phosphatase, PPP5 (1);	0.000000	0.50627	U	0.000120	T	0.25754	0.0627	L	0.28458	0.855	0.80722	D	1	B;B	0.28324	0.207;0.026	B;B	0.31337	0.128;0.018	T	0.04855	-1.0922	10	0.06891	T	0.86	-18.7528	7.9009	0.29734	0.0:0.8892:0.0:0.1108	.	209;209	B2R6R6;P53041	.;PPP5_HUMAN	V	209;196;103	ENSP00000012443:A209V;ENSP00000375786:A103V	ENSP00000012443:A209V	A	+	2	0	PPP5C	51571664	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.390000	0.66261	2.292000	0.77174	0.655000	0.94253	GCC	-	pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5		0.547	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	protein_coding	OTTHUMT00000258969.2	C	NM_006247	rs199770924		46879824	1	no_errors	ENST00000012443	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46879824	C	T	46879824	3	4	196	1	0	0	0	0	1	0	0	0	12411	739	26	2	640	2	PPP5C	19	46879824	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	47171	46879824	12249159	2084	15356											
STRN4	29888	genome.wustl.edu	37	chr19	47231154	47231154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggggggtgcctcttaccttCatgtggccggggctggggtg	19	9	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:47231154C>T	ENST00000263280.6	-	8	1199	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	STRN4_ENST00000539396.1_Missense_Mutation_p.E265K|STRN4_ENST00000391910.3_Missense_Mutation_p.E384K|STRN4_ENST00000594357.2_5'UTR|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	384						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTCTTACCTTCATGTGGCCGG	0.657																																																	0								ENSG00000090372						28	32	31					19																	47231154		2203	4299	6502	STRN4	SO:0001583	missense	0			-	HGNC	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1150G>A	19.37:g.47231154C>T	ENSP00000263280:p.Glu384Lys	Somatic	0	50	0		0.52429534266604	51	20.31	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E384K	ENST00000263280.6	37	c.1150	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126055	0.56721	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67523	-0.27;-0.05;0.08	4.65	4.65	0.58169	.	0.062171	0.64402	D	0.000006	T	0.51770	0.1694	L	0.36672	1.1	0.80722	D	1	P;P	0.40970	0.649;0.734	B;B	0.36567	0.228;0.187	T	0.51965	-0.8638	10	0.08179	T	0.78	.	14.4706	0.67514	0.0:1.0:0.0:0.0	.	384;384	F8VYA6;Q9NRL3	.;STRN4_HUMAN	K	384;384;265	ENSP00000375777:E384K;ENSP00000263280:E384K;ENSP00000440901:E265K	ENSP00000263280:E384K	E	-	1	0	STRN4	51922994	0.982000	0.34865	0.995000	0.50966	0.970000	0.65996	2.402000	0.44521	2.121000	0.65114	0.561000	0.74099	GAA	-	NULL		0.657	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	protein_coding	OTTHUMT00000466607.2	C		-		47231154	-1	no_errors	ENST00000391910	ensembl	human	known	74_37	missense	SNP	0.999	T	T	47231154	C	T	47231154	3	4	196	1	0	0	0	0	1	0	0	0	15338	835	29	2	1172	2	STRN4	19	47231154	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	351330	47231154	11897829	2085	15357											
ELSPBP1	64100	genome.wustl.edu	37	chr19	48511991	48511991	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctattcctatgagtcaagtGgaggtaaggacactcaaagc	10	8	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:48511991G>T	ENST00000339841.2	+	2	245	c.67G>T	c.(67-69)Gga>Tga	p.G23*	ELSPBP1_ENST00000597519.1_Nonsense_Mutation_p.G23*	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	23					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TGAGTCAAGTGGAGGTAAGGA	0.478																																																	0								ENSG00000169393						85	67	73					19																	48511991		2203	4300	6503	ELSPBP1	SO:0001587	stop_gained	0			-	HGNC	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.67G>T	19.37:g.48511991G>T	ENSP00000340660:p.Gly23*	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q96RT0|Q9H4C8	Nonsense_Mutation	SNP							pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.G23*	ENST00000339841.2	37	c.67	CCDS12708.1	19	.	.	.	.	.	.	.	.	.	.	g	18.15	3.559918	0.65538	.	.	ENSG00000169393	ENST00000339841	.	.	.	2.63	2.63	0.31362	.	0.000000	0.34531	N	0.003894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.9185	0.35596	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000340660:G23X	G	+	1	0	ELSPBP1	53203803	0.309000	0.24518	0.077000	0.20336	0.005000	0.04900	2.552000	0.45828	1.784000	0.52394	0.509000	0.49947	GGA	-	smart_FN_type2_col-bd		0.478	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ELSPBP1	protein_coding	OTTHUMT00000465207.1	G		-		48511991	1	no_errors	ENST00000339841	ensembl	human	known	74_37	nonsense	SNP	0.090	T	T	48511991	G	T	48511991	4	4	196	1	0	0	0	0	0	1	0	0	5085	1349	47	3	69	3	ELSPBP1	19	48511991	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1280837	48511991	10616992	2086	15358											
LMTK3	114783	genome.wustl.edu	37	chr19	49013395	49013395	+	Silent	SNP	C	C	T													tccgcagggggagtgtactcCccggagcagtcctccccttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49013395C>T	ENST00000600059.1	-	3	473	c.246G>A	c.(244-246)ggG>ggA	p.G82G	LMTK3_ENST00000270238.3_Silent_p.G111G			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	82					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		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;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GAGTGTACTCCCCGGAGCAGT	0.627																																																	0								ENSG00000142235						34	39	37					19																	49013395		1974	4158	6132	LMTK3	SO:0001819	synonymous_variant	0			-	HGNC	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.246G>A	19.37:g.49013395C>T		Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	66	22.99	Q4G0U1	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G111	ENST00000600059.1	37	c.333		19																																																																																			-	NULL		0.627	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	protein_coding	OTTHUMT00000466137.1	C	NM_052895	-		49013395	-1	no_errors	ENST00000270238	ensembl	human	known	74_37	silent	SNP	0.995	T	T	49013395	C	T	49013395	2	4	196	1	0	0	0	0	0	0	0	1	8862	610	22	2		2	LMTK3	19	49013395	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	501404	49013395	10115588	2087	15359	365	2									
LMTK3	114783	genome.wustl.edu	37	chr19	49013396	49013396	+	Missense_Mutation	SNP	C	C	T													ccgcagggggagtgtactccCcggagcagtcctccccttca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49013396C>T	ENST00000600059.1	-	3	472	c.245G>A	c.(244-246)gGg>gAg	p.G82E	LMTK3_ENST00000270238.3_Missense_Mutation_p.G111E			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	82					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		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;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGTGTACTCCCCGGAGCAGTC	0.622																																																	0								ENSG00000142235						34	38	37					19																	49013396		1970	4158	6128	LMTK3	SO:0001583	missense	0			-	HGNC	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.245G>A	19.37:g.49013396C>T	ENSP00000472020:p.Gly82Glu	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	68	22.47	Q4G0U1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G111E	ENST00000600059.1	37	c.332		19	.	.	.	.	.	.	.	.	.	.	c	26.7	4.766341	0.90020	.	.	ENSG00000142235	ENST00000270238	T	0.76709	-1.04	4.94	4.94	0.65067	.	0.000000	0.64402	U	0.000002	D	0.82495	0.5049	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.84036	0.0362	10	0.59425	D	0.04	.	16.0926	0.81101	0.0:1.0:0.0:0.0	.	82	Q96Q04	LMTK3_HUMAN	E	111	ENSP00000270238:G111E	ENSP00000270238:G111E	G	-	2	0	LMTK3	53705208	0.134000	0.22483	1.000000	0.80357	0.984000	0.73092	1.648000	0.37271	2.461000	0.83175	0.436000	0.28706	GGG	-	NULL		0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	protein_coding	OTTHUMT00000466137.1	C	NM_052895	-		49013396	-1	no_errors	ENST00000270238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49013396	C	T	49013396	3	4	196	1	0	0	0	0	1	0	0	0	8862	623	22	2	4189	2	LMTK3	19	49013396	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	49013396	10115587	2088	15360	365	2									
PPP1R15A	23645	genome.wustl.edu	37	chr19	49376799	49376799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaaaaccagcagttcCcttcctgaagcctggggact	12	12	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49376799C>T	ENST00000200453.5	+	2	578	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	103					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCAGCAGTTCCCTTCCTGAAG	0.562																																																	0								ENSG00000087074						135	119	125					19																	49376799		2203	4300	6503	PPP1R15A	SO:0001819	synonymous_variant	0			-	HGNC	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.309C>T	19.37:g.49376799C>T		Somatic	0	71	0		0.52429534266604	31	36.73	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	38	51.90	B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP							pfam_Prot_Pase1_reg-su15A/B_C	p.S103	ENST00000200453.5	37	c.309	CCDS12738.1	19																																																																																			-	NULL		0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	protein_coding	OTTHUMT00000466226.1	C	NM_014330	-		49376799	1	no_errors	ENST00000200453	ensembl	human	known	74_37	silent	SNP	0.001	T	T	49376799	C	T	49376799	2	4	196	1	0	0	0	0	0	0	0	1	12368	610	22	2		2	PPP1R15A	19	49376799	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	363403	49376799	9752184	2089	15361											
DHDH	27294	genome.wustl.edu	37	chr19	49442736	49442736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcttctttcctgcctccGaggctctgaggtctgttttg	10	14	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49442736G>A	ENST00000221403.2	+	4	437	c.397G>A	c.(397-399)Gag>Aag	p.E133K	DHDH_ENST00000522614.1_Missense_Mutation_p.E133K|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	133					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TCCTGCCTCCGAGGCTCTGAG	0.567																																																	0								ENSG00000104808						87	90	89					19																	49442736		2203	4300	6503	DHDH	SO:0001583	missense	0			-	HGNC	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.397G>A	19.37:g.49442736G>A	ENSP00000221403:p.Glu133Lys	Somatic	0	49	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	48	26.15		Missense_Mutation	SNP							pfam_Oxidoreductase_N	p.E133K	ENST00000221403.2	37	c.397	CCDS12741.1	19	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672909	0.29693	.	.	ENSG00000104808	ENST00000221403;ENST00000522614	T;T	0.21191	2.02;2.02	5.12	5.12	0.69794	NAD(P)-binding domain (1);	0.379942	0.29403	N	0.012241	T	0.14313	0.0346	L	0.28458	0.855	0.40433	D	0.979961	B	0.24963	0.115	B	0.10450	0.005	T	0.03829	-1.1000	10	0.06099	T	0.92	-22.156	16.4609	0.84044	0.0:0.0:1.0:0.0	.	133	Q9UQ10	DHDH_HUMAN	K	133	ENSP00000221403:E133K;ENSP00000428672:E133K	ENSP00000221403:E133K	E	+	1	0	DHDH	54134548	0.999000	0.42202	0.866000	0.34008	0.654000	0.38779	3.376000	0.52417	2.838000	0.97847	0.561000	0.74099	GAG	-	NULL		0.567	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHDH	protein_coding	OTTHUMT00000381477.1	G	NM_014475	-		49442736	1	no_errors	ENST00000221403	ensembl	human	known	74_37	missense	SNP	0.988	A	A	49442736	G	A	49442736	3	1	196	1	0	0	0	0	1	0	0	0	4481	1059	37	1	411	1	DHDH	19	49442736	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	65937	49442736	9686247	2090	15362											
FTL	2512	genome.wustl.edu	37	chr19	49469165	49469165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggccgcgctctcttccagGacatcaaggtaactagtgtg	12	12	2	0	rs551467958		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49469165G>A	ENST00000331825.6	+	2	448	c.241G>A	c.(241-243)Gac>Aac	p.D81N	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	81	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TCTCTTCCAGGACATCAAGGT	0.602																																																	0								ENSG00000087086						40	38	39					19																	49469165		2203	4300	6503	FTL	SO:0001583	missense	0			-	HGNC	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.241G>A	19.37:g.49469165G>A	ENSP00000366525:p.Asp81Asn	Somatic	0	41	0		0.52429534266604	8000	4.41	369	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP							pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.D81N	ENST00000331825.6	37	c.241	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801279	0.50315	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.64085	-0.08	4.12	3.07	0.35406	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.050892	0.85682	D	0.000000	T	0.66237	0.2769	M	0.81942	2.565	0.30687	N	0.751707	B;B	0.24920	0.051;0.114	B;B	0.34346	0.18;0.13	T	0.71020	-0.4713	10	0.66056	D	0.02	.	11.5653	0.50802	0.0:0.0:0.8202:0.1798	.	81;81	P02792;F5H1X1	FRIL_HUMAN;.	N	81	ENSP00000366525:D81N	ENSP00000366525:D81N	D	+	1	0	FTL	54160977	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	6.750000	0.74888	1.314000	0.45095	0.655000	0.94253	GAC	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron		0.602	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	protein_coding	OTTHUMT00000466233.1	G	NM_000146	-		49469165	1	no_errors	ENST00000331825	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49469165	G	A	49469165	3	1	196	1	0	0	0	0	1	0	0	0	6086	1174	41	2	247	2	FTL	19	49469165	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	26429	49469165	9659818	2091	15363											
CGB5	93659	genome.wustl.edu	37	chr19	49548426	49548426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgactgcgggggtcccaagGaccaccccttgacctgtgat	12	14	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49548426G>A	ENST00000301408.6	+	3	699	c.373G>A	c.(373-375)Gac>Aac	p.D125N	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	125					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGTCCCAAGGACCACCCCTT	0.677																																																	0								ENSG00000189052						1	2	2					19																	49548426		655	1705	2360	CGB5	SO:0001583	missense	0			-	HGNC	X00265	CCDS12752.1	19q13.32	2008-02-05				ENSG00000189052			16452	protein-coding gene	gene with protein product		608825				6194155	Standard	NM_033043		Approved	HCG	uc002ply.3	P01233		ENST00000301408.6:c.373G>A	19.37:g.49548426G>A	ENSP00000301408:p.Asp125Asn	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP							pfam_Cys_knot,smart_Gonadotropin_bsu	p.D125N	ENST00000301408.6	37	c.373	CCDS12752.1	19	.	.	.	.	.	.	.	.	.	.	g	0.446	-0.896232	0.02472	.	.	ENSG00000189052	ENST00000428927;ENST00000301408	T	0.56941	0.43	1.83	-0.462	0.12168	.	0.592256	0.17607	N	0.168236	T	0.31702	0.0805	.	.	.	0.20196	N	0.999922	.	.	.	.	.	.	T	0.16012	-1.0417	7	0.20046	T	0.44	-5.3264	3.9338	0.09298	0.4697:0.0:0.5303:0.0	.	.	.	.	N	128;125	ENSP00000301408:D125N	ENSP00000301408:D125N	D	+	1	0	CGB5	54240238	0.790000	0.28787	0.005000	0.12908	0.198000	0.23893	1.861000	0.39438	-0.074000	0.12820	0.195000	0.17529	GAC	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.677	CGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB5	protein_coding	OTTHUMT00000466251.1	G	NM_033043	-		49548426	1	no_errors	ENST00000301408	ensembl	human	known	74_37	missense	SNP	0.738	A	A	49548426	G	A	49548426	3	1	196	1	0	0	0	0	1	0	0	0	3301	1174	41	2	383	2	CGB5	19	49548426	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	79261	49548426	9580557	2092	15364											
PPFIA3	8541	genome.wustl.edu	37	chr19	49649428	49649428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactaacgggtcaggagacCaaggagatcagctgggagca	14	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49649428C>T	ENST00000334186.4	+	23	3163	c.2814C>T	c.(2812-2814)acC>acT	p.T938T	PPFIA3_ENST00000602351.1_Intron	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	938					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTCAGGAGACCAAGGAGATCA	0.652											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000177380						42	43	43					19																	49649428		2203	4300	6503	PPFIA3	SO:0001819	synonymous_variant	0			-	HGNC	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2814C>T	19.37:g.49649428C>T		Somatic	0	35	0	963	0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP							pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T938	ENST00000334186.4	37	c.2814	CCDS12758.1	19																																																																																			-	NULL		0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	protein_coding	OTTHUMT00000465688.1	C	NM_003660	-		49649428	1	no_errors	ENST00000334186	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49649428	C	T	49649428	2	4	196	1	0	0	0	0	0	0	0	1	12313	581	21	2		2	PPFIA3	19	49649428	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	101002	49649428	9479555	2093	15365											
TRPM4	54795	genome.wustl.edu	37	chr19	49674906	49674906	+	Silent	SNP	C	C	T													tcagggggagctgcggactgCctggcggagaccctggaaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49674906C>T	ENST00000252826.5	+	8	1056	c.930C>T	c.(928-930)tgC>tgT	p.C310C	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Silent_p.C310C|TRPM4_ENST00000355712.5_Silent_p.C27C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	310					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)			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)		CTGCGGACTGCCTGGCGGAGA	0.602																																																	0								ENSG00000130529						32	37	36					19																	49674906		2202	4299	6501	TRPM4	SO:0001819	synonymous_variant	0			-	HGNC	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.930C>T	19.37:g.49674906C>T		Somatic	0	23	0		0.52429534266604	9	50	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP							pfam_Ion_trans_dom	p.C310	ENST00000252826.5	37	c.930	CCDS33073.1	19																																																																																			-	NULL		0.602	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	protein_coding	OTTHUMT00000465543.2	C	NM_017636	-		49674906	1	no_errors	ENST00000252826	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49674906	C	T	49674906	2	4	196	1	0	0	0	0	0	0	0	1	16595	747	26	2		2	TRPM4	19	49674906	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	25478	49674906	9454077	2094	15366	366	2									
TRPM4	54795	genome.wustl.edu	37	chr19	49674907	49674907	+	Silent	SNP	C	C	T													cagggggagctgcggactgcCtggcggagaccctggaagac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49674907C>T	ENST00000252826.5	+	8	1057	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Silent_p.L311L|TRPM4_ENST00000355712.5_Silent_p.L28L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	311					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)			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)		TGCGGACTGCCTGGCGGAGAC	0.597																																																	0								ENSG00000130529						33	37	36					19																	49674907		2202	4299	6501	TRPM4	SO:0001819	synonymous_variant	0			-	HGNC	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.931C>T	19.37:g.49674907C>T		Somatic	0	23	0		0.52429534266604	9	50	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP							pfam_Ion_trans_dom	p.L311	ENST00000252826.5	37	c.931	CCDS33073.1	19																																																																																			-	NULL		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	protein_coding	OTTHUMT00000465543.2	C	NM_017636	-		49674907	1	no_errors	ENST00000252826	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49674907	C	T	49674907	2	4	196	1	0	0	0	0	0	0	0	1	16595	680	24	2		2	TRPM4	19	49674907	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	49674907	9454076	2095	15367	366	2									
FCGRT	2217	genome.wustl.edu	37	chr19	50028814	50028814	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctctgttgtggagaaggatGaggagtgggctgccaggtgg	20	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50028814G>A	ENST00000221466.5	+	6	1458	c.972G>A	c.(970-972)atG>atA	p.M324I	FCGRT_ENST00000426395.3_Missense_Mutation_p.M324I|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000599988.1_Missense_Mutation_p.M58I|FCGRT_ENST00000596975.1_Missense_Mutation_p.M232I	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	324					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGAAGGATGAGGAGTGGGC	0.617																																																	0								ENSG00000104870						49	44	46					19																	50028814		2203	4300	6503	FCGRT	SO:0001583	missense	0			-	HGNC	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.972G>A	19.37:g.50028814G>A	ENSP00000221466:p.Met324Ile	Somatic	0	64	0		0.52429534266604	932	18.98	219	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.M324I	ENST00000221466.5	37	c.972	CCDS12770.1	19	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666567	0.29604	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00711	5.8;5.8	4.73	1.36	0.22044	.	0.000000	0.43919	D	0.000518	T	0.00784	0.0026	L	0.43923	1.385	0.09310	N	0.999997	B	0.15473	0.013	B	0.09377	0.004	T	0.48547	-0.9026	10	0.87932	D	0	.	3.5054	0.07688	0.2082:0.0:0.5591:0.2327	.	324	P55899	FCGRN_HUMAN	I	324	ENSP00000221466:M324I;ENSP00000410798:M324I	ENSP00000221466:M324I	M	+	3	0	FCGRT	54720626	0.903000	0.30736	0.053000	0.19242	0.067000	0.16453	1.260000	0.32968	0.640000	0.30582	0.563000	0.77884	ATG	-	NULL		0.617	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	protein_coding	OTTHUMT00000465267.1	G		-		50028814	1	no_errors	ENST00000221466	ensembl	human	known	74_37	missense	SNP	0.010	A	A	50028814	G	A	50028814	3	1	196	1	0	0	0	0	1	0	0	0	5788	1290	45	2	990	2	FCGRT	19	50028814	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	353907	50028814	9100169	2096	15368											
BCL2L12	83596	genome.wustl.edu	37	chr19	50169104	50169104	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacggcccgctgggctgttCccgcccctatgccctttttt	11	16	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	BCL2L12_ENST00000246784.3_Silent_p.F8F|IRF3_ENST00000597198.1_5'UTR|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000309877.7_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000599223.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542																																																	0								ENSG00000126453						45	52	50					19																	50169104		2203	4300	6503	BCL2L12	SO:0001819	synonymous_variant	0			-	HGNC	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.24C>T	19.37:g.50169104C>T		Somatic	0	78	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51	Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP							NULL	p.F8	ENST00000246785.3	37	c.24	CCDS12776.1	19																																																																																			-	NULL		0.542	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	protein_coding	OTTHUMT00000465770.1	C	NM_052842	-		50169104	1	no_errors	ENST00000246785	ensembl	human	known	74_37	silent	SNP	0.000	T	T	50169104	C	T	50169104	2	4	196	1	0	0	0	0	0	0	0	1	1370	854	30	2		2	BCL2L12	19	50169104	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	140290	50169104	8959879	2097	15369											
TSKS	60385	genome.wustl.edu	37	chr19	50251659	50251659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgcacgtgctggttaaccCggttggtcttttccttcaag	10	11	2	0	rs146698044		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50251659C>A	ENST00000246801.3	-	3	549	c.467G>T	c.(466-468)cGg>cTg	p.R156L	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	156					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)		CTGGTTAACCCGGTTGGTCTT	0.567																																																	0								ENSG00000126467						124	101	109					19																	50251659		2203	4300	6503	TSKS	SO:0001583	missense	0			-	HGNC	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.467G>T	19.37:g.50251659C>A	ENSP00000246801:p.Arg156Leu	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	Q8WXJ0	Missense_Mutation	SNP							NULL	p.R156L	ENST00000246801.3	37	c.467	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837459	0.50951	.	.	ENSG00000126467	ENST00000246801	T	0.36699	1.24	4.85	4.85	0.62838	.	0.000000	0.49305	D	0.000154	T	0.41696	0.1170	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	T	0.26849	-1.0091	10	0.59425	D	0.04	-30.3731	8.9987	0.36068	0.0:0.9014:0.0:0.0986	.	156	Q9UJT2	TSKS_HUMAN	L	156	ENSP00000246801:R156L	ENSP00000246801:R156L	R	-	2	0	TSKS	54943471	0.995000	0.38212	0.997000	0.53966	0.930000	0.56654	1.638000	0.37165	2.525000	0.85131	0.462000	0.41574	CGG	-	NULL		0.567	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	C	NM_021733	-		50251659	-1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	SNP	0.999	A	A	50251659	C	A	50251659	3	1	196	1	0	0	0	0	1	0	0	0	16633	652	23	3	1347	3	TSKS	19	50251659	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	82555	50251659	8877324	2098	15370											
MYH14	79784	genome.wustl.edu	37	chr19	50735284	50735284	+	Silent	SNP	G	G	A													gaactcttccaggagacgctGgagtcgctgcgggtcctggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50735284G>A	ENST00000596571.1	+	8	1047	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	MYH14_ENST00000598205.1_Silent_p.L357L|MYH14_ENST00000262269.8_Silent_p.L357L|MYH14_ENST00000440075.2_Silent_p.L357L|MYH14_ENST00000425460.1_Silent_p.L357L|MYH14_ENST00000376970.2_Silent_p.L349L|MYH14_ENST00000601313.1_Silent_p.L357L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	349	Myosin motor.				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)			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)		AGGAGACGCTGGAGTCGCTGC	0.667																																																	0								ENSG00000105357						35	38	37					19																	50735284		1959	4132	6091	MYH14	SO:0001819	synonymous_variant	0			-	HGNC	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.1047G>A	19.37:g.50735284G>A		Somatic	0	65	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L357	ENST00000596571.1	37	c.1071	CCDS59411.1	19																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	G	NM_024729	-		50735284	1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50735284	G	A	50735284	2	1	196	1	0	0	0	0	0	0	0	1	10035	1335	47	2		2	MYH14	19	50735284	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	483625	50735284	8393699	2099	15371	367	2									
MYH14	79784	genome.wustl.edu	37	chr19	50735285	50735285	+	Missense_Mutation	SNP	G	G	A													aactcttccaggagacgctgGagtcgctgcgggtcctggga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50735285G>A	ENST00000596571.1	+	8	1048	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	MYH14_ENST00000598205.1_Missense_Mutation_p.E358K|MYH14_ENST00000262269.8_Missense_Mutation_p.E358K|MYH14_ENST00000440075.2_Missense_Mutation_p.E358K|MYH14_ENST00000425460.1_Missense_Mutation_p.E358K|MYH14_ENST00000376970.2_Missense_Mutation_p.E350K|MYH14_ENST00000601313.1_Missense_Mutation_p.E358K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	350	Myosin motor.				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)			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)		GGAGACGCTGGAGTCGCTGCG	0.667																																																	0								ENSG00000105357						35	38	37					19																	50735285		1959	4133	6092	MYH14	SO:0001583	missense	0			-	HGNC	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.1048G>A	19.37:g.50735285G>A	ENSP00000472819:p.Glu350Lys	Somatic	0	66	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E358K	ENST00000596571.1	37	c.1072	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144218	0.57044	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	4.09	4.09	0.47781	Myosin head, motor domain (2);	.	.	.	.	D	0.85544	0.5721	L	0.41124	1.26	0.41770	D	0.989767	P;P;P	0.47677	0.899;0.626;0.572	P;B;B	0.48488	0.579;0.274;0.179	D	0.86458	0.1777	9	0.49607	T	0.09	.	14.1722	0.65517	0.0:0.0:1.0:0.0	.	358;350;358	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	K	350;358;350;358;350;358	ENSP00000406273:E358K;ENSP00000366169:E350K;ENSP00000407879:E358K;ENSP00000262269:E358K	ENSP00000262269:E358K	E	+	1	0	MYH14	55427097	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.819000	0.75262	2.292000	0.77174	0.491000	0.48974	GAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	G	NM_024729	-		50735285	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50735285	G	A	50735285	3	1	196	1	0	0	0	0	1	0	0	0	10035	1175	41	2	1106	2	MYH14	19	50735285	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	50735285	8393698	2100	15372	367	2									
NAPSA	9476	genome.wustl.edu	37	chr19	50865243	50865243	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagggcacactgaagAagtggcatctcctggacggg	14	11	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50865243A>T	ENST00000253719.2	-	3	540	c.332T>A	c.(331-333)tTc>tAc	p.F111Y	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	111					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)			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)		CACACTGAAGAAGTGGCATCT	0.547																																																	0								ENSG00000131400						26	24	25					19																	50865243		2202	4293	6495	NAPSA	SO:0001583	missense	0			-	HGNC	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.332T>A	19.37:g.50865243A>T	ENSP00000253719:p.Phe111Tyr	Somatic	0	76	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	91	16.51	Q8WWD9	Missense_Mutation	SNP							pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.F111Y	ENST00000253719.2	37	c.332	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257992	0.59321	.	.	ENSG00000131400	ENST00000253719	T	0.29397	1.57	3.95	3.95	0.45737	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.096704	0.64402	D	0.000001	T	0.37705	0.1013	L	0.52126	1.63	0.43039	D	0.994622	P	0.51537	0.946	P	0.54060	0.741	T	0.09465	-1.0673	10	0.26408	T	0.33	.	11.0422	0.47838	1.0:0.0:0.0:0.0	.	111	O96009	NAPSA_HUMAN	Y	111	ENSP00000253719:F111Y	ENSP00000253719:F111Y	F	-	2	0	NAPSA	55557055	1.000000	0.71417	0.972000	0.41901	0.814000	0.46013	3.127000	0.50484	1.555000	0.49500	0.397000	0.26171	TTC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.547	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	protein_coding	OTTHUMT00000464714.1	A	NM_004851	-		50865243	-1	no_errors	ENST00000253719	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50865243	A	T	50865243	3	4	196	1	0	0	0	0	1	0	0	0	10168	246	9	5	958	5	NAPSA	19	50865243	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	129958	50865243	8263740	2101	15373											
MYBPC2	4606	genome.wustl.edu	37	chr19	50947029	50947029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgtgggtgaccgggtGgaaatggcagtggaggtgtc	20	4	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50947029G>A	ENST00000357701.5	+	11	1140	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	363	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTGACCGGGTGGAAATGGCAG	0.547																																																	0								ENSG00000086967						193	199	197					19																	50947029		2071	4207	6278	MYBPC2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1089G>A	19.37:g.50947029G>A		Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	A1L4G9	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V363	ENST00000357701.5	37	c.1089	CCDS46152.1	19																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.547	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	protein_coding	OTTHUMT00000464751.1	G	NM_004533	-		50947029	1	no_errors	ENST00000357701	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50947029	G	A	50947029	2	1	196	1	0	0	0	0	0	0	0	1	10014	1335	47	2		2	MYBPC2	19	50947029	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	81786	50947029	8181954	2102	15374											
JOSD2	126119	genome.wustl.edu	37	chr19	51009439	51009439	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagccatggtcagtctgtCcgcagccagctgcccttctc	10	16	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51009439C>T	ENST00000598418.1	-	5	811	c.558G>A	c.(556-558)cgG>cgA	p.R186R	JOSD2_ENST00000595669.1_Silent_p.R144R|JOSD2_ENST00000601423.1_Silent_p.R186R|JOSD2_ENST00000391815.3_Silent_p.R186R	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	186	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		GTCAGTCTGTCCGCAGCCAGC	0.677																																																	0								ENSG00000161677						64	54	57					19																	51009439		2203	4294	6497	JOSD2	SO:0001819	synonymous_variant	0			-	HGNC	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.558G>A	19.37:g.51009439C>T		Somatic	0	59	0		0.52429534266604	232	55.68	294	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	63	39.42	M0QX25	Silent	SNP							pfam_Josephin,prints_Josephin,pfscan_Josephin	p.R186	ENST00000598418.1	37	c.558	CCDS12797.1	19																																																																																			-	pfscan_Josephin		0.677	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JOSD2	protein_coding	OTTHUMT00000464902.1	C	NM_138334	-		51009439	-1	no_errors	ENST00000391815	ensembl	human	known	74_37	silent	SNP	0.059	T	T	51009439	C	T	51009439	2	4	196	1	0	0	0	0	0	0	0	1	7961	842	30	2		2	JOSD2	19	51009439	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	62410	51009439	8119544	2103	15375											
GPR32	2854	genome.wustl.edu	37	chr19	51274790	51274790	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctgtgtcaacagcagcctCaaccccttcctctacgtctt	7	16	4	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51274790C>T	ENST00000270590.4	+	1	1070	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	311					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACAGCAGCCTCAACCCCTTCC	0.542																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0								ENSG00000142511						84	82	83					19																	51274790		2203	4300	6503	GPR32	SO:0001819	synonymous_variant	0			-	HGNC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.933C>T	19.37:g.51274790C>T		Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.14	Q502U7|Q6NWS5	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.L311	ENST00000270590.4	37	c.933	CCDS12801.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	protein_coding	OTTHUMT00000465016.1	C		-		51274790	1	no_errors	ENST00000270590	ensembl	human	known	74_37	silent	SNP	1.000	T	T	51274790	C	T	51274790	2	4	196	1	0	0	0	0	0	0	0	1	6690	813	29	2		2	GPR32	19	51274790	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	265351	51274790	7854193	2104	15376											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51647685	51647685	+	Silent	SNP	C	C	T													ttgacccacaggcccaacatCcttatccccggtaccctgga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51647685C>T	ENST00000317643.6	+	2	525	c.456C>T	c.(454-456)atC>atT	p.I152I	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	152	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCCCAACATCCTTATCCCCG	0.607																																																	0								ENSG00000168995						155	141	145					19																	51647685		2203	4300	6503	SIGLEC7	SO:0001819	synonymous_variant	0			-	HGNC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.456C>T	19.37:g.51647685C>T		Somatic	0	60	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.39	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I152	ENST00000317643.6	37	c.456	CCDS12826.1	19																																																																																			-	pfscan_Ig-like_dom		0.607	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	C	NM_016543	-		51647685	1	no_errors	ENST00000317643	ensembl	human	known	74_37	silent	SNP	0.004	T	T	51647685	C	T	51647685	2	4	196	1	0	0	0	0	0	0	0	1	14321	845	30	2		2	SIGLEC7	19	51647685	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	372895	51647685	7481298	2105	15377	368	2									
SIGLEC7	27036	genome.wustl.edu	37	chr19	51647686	51647686	+	Missense_Mutation	SNP	C	C	T													tgacccacaggcccaacatcCttatccccggtaccctggag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51647686C>T	ENST00000317643.6	+	2	526	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	153	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCCCAACATCCTTATCCCCGG	0.612																																																	0								ENSG00000168995						154	140	145					19																	51647686		2203	4300	6503	SIGLEC7	SO:0001583	missense	0			-	HGNC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.457C>T	19.37:g.51647686C>T	ENSP00000323328:p.Leu153Phe	Somatic	0	60	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.39	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L153F	ENST00000317643.6	37	c.457	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	1.294	-0.606900	0.03717	.	.	ENSG00000168995	ENST00000317643	T	0.03524	3.9	2.9	-0.66	0.11421	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.844940	0.03306	N	0.189853	T	0.04679	0.0127	L	0.51914	1.62	0.09310	N	1	B	0.19073	0.033	B	0.32149	0.141	T	0.46359	-0.9197	10	0.10111	T	0.7	.	2.3762	0.04343	0.2396:0.4734:0.0:0.287	.	153	Q9Y286	SIGL7_HUMAN	F	153	ENSP00000323328:L153F	ENSP00000323328:L153F	L	+	1	0	SIGLEC7	56339498	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.232000	0.09055	0.109000	0.17891	-0.347000	0.07816	CTT	-	smart_Ig_sub,pfscan_Ig-like_dom		0.612	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	C	NM_016543	-		51647686	1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	SNP	0.001	T	T	51647686	C	T	51647686	3	4	196	1	0	0	0	0	1	0	0	0	14321	681	24	2	463	2	SIGLEC7	19	51647686	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	51647686	7481297	2106	15378	368	2									
CEACAM18	729767	genome.wustl.edu	37	chr19	51986563	51986563	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatgagtgcagcagctcCcctccaggctcatgctttgc	9	17	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51986563C>T	ENST00000396477.4	+	4	974				CEACAM18_ENST00000451626.1_Silent_p.S383S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAGCAGCTCCCCTCCAGGCT	0.602																																																	0								ENSG00000213822						49	51	50					19																	51986563		2135	4239	6374	CEACAM18	SO:0001627	intron_variant	0			-	HGNC			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.953+13C>T	19.37:g.51986563C>T		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	37	37.29	C9JN24	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S383	ENST00000396477.4	37	c.1149		19																																																																																			-	NULL		0.602	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	protein_coding	OTTHUMT00000323114.2	C		-		51986563	1	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	SNP	0.006	T	T	51986563	C	T	51986563	1	4	196	0	1	0	0	0	0	0	0	0	3191	610	22	2		2	CEACAM18	19	51986563	Intron	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	338877	51986563	7142420	2107	15379											
SIGLEC12	89858	genome.wustl.edu	37	chr19	52002723	52002723	+	Silent	SNP	G	G	A													agtcggacagccctggtcatGgtcacgccggccccaggcaa							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52002723G>A	ENST00000291707.3	-	3	1111	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	SIGLEC12_ENST00000598614.1_Silent_p.T234T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	352	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCTGGTCATGGTCACGCCGG	0.607																																																	0								ENSG00000254521						57	51	53					19																	52002723		2203	4300	6503	SIGLEC12	SO:0001819	synonymous_variant	0			-	HGNC	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"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"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1056C>T	19.37:g.52002723G>A		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	49	27.94	Q8IYH7	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T352	ENST00000291707.3	37	c.1056	CCDS12833.1	19																																																																																			-	smart_Ig_sub,pfscan_Ig-like_dom		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	protein_coding	OTTHUMT00000384641.2	G	NM_053003	-		52002723	-1	no_errors	ENST00000291707	ensembl	human	known	74_37	silent	SNP	0.000	A	A	52002723	G	A	52002723	2	1	196	1	0	0	0	0	0	0	0	1	14316	1335	47	2		2	SIGLEC12	19	52002723	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	16160	52002723	7126260	2108	15380	369	2									
SIGLEC12	89858	genome.wustl.edu	37	chr19	52002724	52002724	+	Missense_Mutation	SNP	G	G	A													gtcggacagccctggtcatgGtcacgccggccccaggcaag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52002724G>A	ENST00000291707.3	-	3	1110	c.1055C>T	c.(1054-1056)aCc>aTc	p.T352I	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T234I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	352	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGGTCATGGTCACGCCGGC	0.612																																																	0								ENSG00000254521						58	52	54					19																	52002724		2203	4300	6503	SIGLEC12	SO:0001583	missense	0			-	HGNC	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"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"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1055C>T	19.37:g.52002724G>A	ENSP00000291707:p.Thr352Ile	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	50	25.00	Q8IYH7	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T352I	ENST00000291707.3	37	c.1055	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	.	12.89	2.073644	0.36566	.	.	ENSG00000254521	ENST00000291707	T	0.03413	3.94	2.22	0.948	0.19561	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.376419	0.19253	N	0.118880	T	0.11879	0.0289	M	0.88105	2.93	0.09310	N	1	P;P	0.46784	0.816;0.884	P;P	0.52627	0.606;0.704	T	0.02639	-1.1130	10	0.87932	D	0	.	6.0233	0.19640	0.0:0.3294:0.6706:0.0	.	352;234	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	I	352	ENSP00000291707:T352I	ENSP00000291707:T352I	T	-	2	0	SIGLEC12	56694536	0.002000	0.14202	0.013000	0.15412	0.004000	0.04260	-0.018000	0.12568	1.256000	0.44068	0.503000	0.49774	ACC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.612	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	protein_coding	OTTHUMT00000384641.2	G	NM_053003	-		52002724	-1	no_errors	ENST00000291707	ensembl	human	known	74_37	missense	SNP	0.005	A	A	52002724	G	A	52002724	3	1	196	1	0	0	0	0	1	0	0	0	14316	1261	44	2	756	2	SIGLEC12	19	52002724	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	52002724	7126259	2109	15381	369	2									
ZNF836	162962	genome.wustl.edu	37	chr19	52659026	52659026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcattcgttacattgaaacGgcttctctccagtatgaatt	7	10	1	2	rs529168404	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52659026G>A	ENST00000322146.8	-	5	2431	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	ZNF836_ENST00000597252.1_Missense_Mutation_p.P637L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	637					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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACATTGAAACGGCTTCTCTCC	0.403																																																	0								ENSG00000196267						133	144	140					19																	52659026		2142	4268	6410	ZNF836	SO:0001583	missense	0			-	HGNC	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1910C>T	19.37:g.52659026G>A	ENSP00000325038:p.Pro637Leu	Somatic	0	48	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P637L	ENST00000322146.8	37	c.1910	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	g	11.38	1.621492	0.28889	.	.	ENSG00000196267	ENST00000322146	T	0.17054	2.3	2.09	2.09	0.27110	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	L	0.46670	1.46	0.39318	D	0.965198	D	0.89917	1.0	D	0.97110	1.0	T	0.08680	-1.0710	9	0.52906	T	0.07	.	11.1958	0.48711	0.0:0.0:1.0:0.0	.	637	Q6ZNA1	ZN836_HUMAN	L	637	ENSP00000325038:P637L	ENSP00000325038:P637L	P	-	2	0	ZNF836	57350838	0.348000	0.24861	0.226000	0.23910	0.009000	0.06853	0.803000	0.27083	1.152000	0.42452	0.484000	0.47621	CCG	-	pfscan_Znf_C2H2		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	protein_coding	OTTHUMT00000462456.1	G	NM_001102657	-		52659026	-1	no_errors	ENST00000322146	ensembl	human	known	74_37	missense	SNP	0.983	A	A	52659026	G	A	52659026	3	1	196	1	0	0	0	0	1	0	0	0	18194	1116	39	1	902	1	ZNF836	19	52659026	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	656302	52659026	6469957	2110	15382											
ZNF534	147658	genome.wustl.edu	37	chr19	52942154	52942154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagtcagaattcaaacCttcaacgacataggaaaatt	5	9	5	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52942154C>T	ENST00000332323.6	+	4	1541	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.L481F	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	494					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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GAATTCAAACCTTCAACGACA	0.413																																																	0								ENSG00000198633						38	35	36					19																	52942154		692	1591	2283	ZNF534	SO:0001583	missense	0			-	HGNC	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1480C>T	19.37:g.52942154C>T	ENSP00000327538:p.Leu494Phe	Somatic	0	80	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	Q76KX9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L494F	ENST00000332323.6	37	c.1480	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497505	0.44455	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.52057	0.68;0.68	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64461	0.2600	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.843;0.999	T	0.65977	-0.6037	9	0.54805	T	0.06	.	10.5681	0.45184	0.0:1.0:0.0:0.0	.	481;494	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	F	494;481;493	ENSP00000327538:L494F;ENSP00000391358:L481F	ENSP00000327538:L494F	L	+	1	0	ZNF534	57633966	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.076000	0.11412	0.972000	0.38314	0.453000	0.30009	CTT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	protein_coding	OTTHUMT00000460877.1	C	NM_182512	-		52942154	1	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	SNP	0.344	T	T	52942154	C	T	52942154	3	4	196	1	0	0	0	0	1	0	0	0	17980	681	24	2	1494	2	ZNF534	19	52942154	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	283128	52942154	6186829	2111	15383											
ZNF600	162966	genome.wustl.edu	37	chr19	53270681	53270681	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actggtagacttctcaaattGattaccaattttacctttga	5	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:53270681G>T	ENST00000338230.3	-	3	595	c.328C>A	c.(328-330)Caa>Aaa	p.Q110K		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	110					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.Q110E(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTCTCAAATTGATTACCAATT	0.383																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												1	Substitution - Missense(1)	breast(1)						ENSG00000189190						152	152	152					19																	53270681		2203	4300	6503	ZNF600	SO:0001583	missense	0			-	HGNC	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.328C>A	19.37:g.53270681G>T	ENSP00000344791:p.Gln110Lys	Somatic	0	84	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	58	40.21	Q6MZR0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q110K	ENST00000338230.3	37	c.328	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	11.90	1.776315	0.31411	.	.	ENSG00000189190	ENST00000338230	T	0.07908	3.15	1.71	-1.42	0.08913	.	.	.	.	.	T	0.17831	0.0428	M	0.81802	2.56	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.17349	-1.0372	9	0.59425	D	0.04	.	3.7171	0.08442	0.0:0.2753:0.445:0.2797	.	110	Q6ZNG1	ZN600_HUMAN	K	110	ENSP00000344791:Q110K	ENSP00000344791:Q110K	Q	-	1	0	ZNF600	57962493	0.970000	0.33590	0.000000	0.03702	0.004000	0.04260	0.312000	0.19397	-0.416000	0.07473	0.298000	0.19748	CAA	-	NULL		0.383	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	G	NM_198457	-		53270681	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	SNP	0.002	T	T	53270681	G	T	53270681	3	4	196	1	0	0	0	0	1	0	0	0	18037	1299	45	3	1844	3	ZNF600	19	53270681	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	328527	53270681	5858302	2112	15384											
ZNF347	84671	genome.wustl.edu	37	chr19	53644726	53644726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtaaggcttttctccgGtgtgaattaccagatgaata	9	6	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:53644726G>A	ENST00000334197.7	-	5	1423	c.1355C>T	c.(1354-1356)aCc>aTc	p.T452I	ZNF347_ENST00000601469.2_Missense_Mutation_p.T453I|ZNF347_ENST00000452676.2_Missense_Mutation_p.T453I|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	452					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTTTTCTCCGGTGTGAATTAC	0.438																																					Melanoma(64;205 1597 17324 45721)												0								ENSG00000197937						141	140	140					19																	53644726		2203	4300	6503	ZNF347	SO:0001583	missense	0			-	HGNC	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1355C>T	19.37:g.53644726G>A	ENSP00000334146:p.Thr452Ile	Somatic	0	70	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	80	21.57	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T453I	ENST00000334197.7	37	c.1358	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504755	0.44558	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.25749	1.78;1.78	2.43	1.34	0.21922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46328	0.1387	M	0.80847	2.515	0.25074	N	0.99098	D;P	0.89917	1.0;0.956	D;P	0.87578	0.998;0.606	T	0.22730	-1.0208	9	0.66056	D	0.02	.	4.1555	0.10258	0.1355:0.0:0.638:0.2265	.	453;452	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	452;453	ENSP00000334146:T452I;ENSP00000405218:T453I	ENSP00000334146:T452I	T	-	2	0	ZNF347	58336538	0.665000	0.27466	0.027000	0.17364	0.004000	0.04260	1.339000	0.33885	0.375000	0.24679	0.655000	0.94253	ACC	-	pfscan_Znf_C2H2		0.438	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	protein_coding	OTTHUMT00000464170.1	G	NM_032584	-		53644726	-1	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	SNP	0.986	A	A	53644726	G	A	53644726	3	1	196	1	0	0	0	0	1	0	0	0	17868	1261	44	2	1168	2	ZNF347	19	53644726	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	374045	53644726	5484257	2113	15385											
LILRB5	10990	genome.wustl.edu	37	chr19	54760617	54760617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctggctcagcccagagGgtgggtttggggagggtgcc	21	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54760617G>A	ENST00000316219.5	-	3	197	c.90C>T	c.(88-90)acC>acT	p.T30T	LILRB5_ENST00000450632.1_Silent_p.T30T|LILRB5_ENST00000345866.6_Silent_p.T30T|LILRB5_ENST00000449561.2_Silent_p.T30T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	30	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCCAGAGGGTGGGTTTGG	0.617																																																	0								ENSG00000105609						43	50	47					19																	54760617		2203	4300	6503	LILRB5	SO:0001819	synonymous_variant	0			-	HGNC	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.90C>T	19.37:g.54760617G>A		Somatic	0	37	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03	Q8N760	Silent	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T30	ENST00000316219.5	37	c.90	CCDS12885.1	19																																																																																			-	pfscan_Ig-like_dom		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	protein_coding	OTTHUMT00000142877.2	G		-		54760617	-1	no_errors	ENST00000450632	ensembl	human	known	74_37	silent	SNP	0.820	A	A	54760617	G	A	54760617	2	1	196	1	0	0	0	0	0	0	0	1	8796	1219	43	2		2	LILRB5	19	54760617	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1115891	54760617	4368366	2114	15386											
LILRB2	10288	genome.wustl.edu	37	chr19	54783672	54783672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagcaccagggggtcaCtgagctcagaccaccgagcg	12	15	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54783672C>A	ENST00000391749.4	-	4	600	c.329G>T	c.(328-330)aGt>aTt	p.S110I	MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391748.1_Missense_Mutation_p.S110I|LILRB2_ENST00000391746.1_Missense_Mutation_p.S110I|LILRB2_ENST00000314446.5_Missense_Mutation_p.S110I|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_5'UTR	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	110	Ig-like C2-type 1.				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)		CAGGGGGTCACTGAGCTCAGA	0.602																																																	0								ENSG00000131042						103	102	102					19																	54783672		2203	4300	6503	LILRB2	SO:0001583	missense	0			-	HGNC	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.329G>T	19.37:g.54783672C>A	ENSP00000375629:p.Ser110Ile	Somatic	0	49	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	57	30.49	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S110I	ENST00000391749.4	37	c.329	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202560	0.38905	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	2.41	1.28	0.21552	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.091678	0.48286	D	0.000199	T	0.56863	0.2014	H	0.98525	4.255	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	T	0.59820	-0.7382	10	0.87932	D	0	.	6.7531	0.23497	0.2805:0.7195:0.0:0.0	.	110;127;110	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	I	110	ENSP00000375628:S110I;ENSP00000319960:S110I;ENSP00000375629:S110I;ENSP00000375626:S110I	ENSP00000319960:S110I	S	-	2	0	LILRB2	59475484	0.034000	0.19679	0.320000	0.25306	0.015000	0.08874	0.997000	0.29731	0.304000	0.22809	0.289000	0.19496	AGT	-	smart_Ig_sub,pfscan_Ig-like_dom		0.602	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	protein_coding	OTTHUMT00000139510.1	C		-		54783672	-1	no_errors	ENST00000391749	ensembl	human	known	74_37	missense	SNP	0.873	A	A	54783672	C	A	54783672	3	1	196	1	0	0	0	0	1	0	0	0	8793	565	20	3	1511	3	LILRB2	19	54783672	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	23055	54783672	4345311	2115	15387											
LILRB2	10288	genome.wustl.edu	37	chr19	54783794	54783794	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtcgtatccgtgtaatCcaagatgctgattttttctc	8	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54783794C>T	ENST00000391749.4	-	4	478	c.207G>A	c.(205-207)tgG>tgA	p.W69*	MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391748.1_Nonsense_Mutation_p.W69*|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.W69*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.W69*|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_5'UTR	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	69	Ig-like C2-type 1.				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)		TCCGTGTAATCCAAGATGCTG	0.527																																																	0								ENSG00000131042						222	212	216					19																	54783794		2203	4300	6503	LILRB2	SO:0001587	stop_gained	0			-	HGNC	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.207G>A	19.37:g.54783794C>T	ENSP00000375629:p.Trp69*	Somatic	0	38	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Nonsense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W69*	ENST00000391749.4	37	c.207	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070711	0.55539	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	.	.	.	2.48	-3.45	0.04781	.	1.034920	0.07701	N	0.940431	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.2937	0.00262	0.2339:0.3041:0.2316:0.2304	.	.	.	.	X	69	.	ENSP00000319960:W69X	W	-	3	0	LILRB2	59475606	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.009000	0.13219	-0.253000	0.09514	0.298000	0.19748	TGG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.527	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	protein_coding	OTTHUMT00000139510.1	C		-		54783794	-1	no_errors	ENST00000391749	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	54783794	C	T	54783794	4	4	196	1	0	0	0	0	0	1	0	0	8793	856	30	2	1633	2	LILRB2	19	54783794	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	122	54783794	4345189	2116	15388											
LILRB4	11006	genome.wustl.edu	37	chr19	55179409	55179409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcaactgagcctcctcCatcccaggaaggggcctctc	11	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55179409C>T	ENST00000391736.1	+	14	1601	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	LILRB4_ENST00000391733.3_Missense_Mutation_p.P430L|LILRB4_ENST00000391734.3_Missense_Mutation_p.P376L|LILRB4_ENST00000430952.2_Missense_Mutation_p.P428L|LILRB4_ENST00000270452.2_Missense_Mutation_p.P429L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	429					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCTCCTCCATCCCAGGAA	0.617																																																	0								ENSG00000186818						95	97	96					19																	55179409		2203	4300	6503	LILRB4	SO:0001583	missense	0			-	HGNC	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1286C>T	19.37:g.55179409C>T	ENSP00000375616:p.Pro429Leu	Somatic	0	95	0		0.52429534266604	225	0.44	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	101	11.40	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP							pfam_Immunoglobulin,pfscan_Ig-like_dom	p.P429L	ENST00000391736.1	37	c.1286	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.053071	0.00394	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00538	6.95;6.95;6.95;6.71;6.96	2.07	0.983	0.19767	.	.	.	.	.	T	0.00468	0.0015	L	0.52126	1.63	0.09310	N	1	B;B;B;P	0.44090	0.002;0.004;0.092;0.826	B;B;B;B	0.37780	0.0;0.001;0.059;0.258	T	0.49254	-0.8959	9	0.27082	T	0.32	.	4.686	0.12758	0.0:0.7979:0.0:0.2021	.	376;430;428;429	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	429;429;428;376;430	ENSP00000375616:P429L;ENSP00000270452:P429L;ENSP00000408995:P428L;ENSP00000375614:P376L;ENSP00000375613:P430L	ENSP00000270452:P429L	P	+	2	0	LILRB4	59871221	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.054000	0.11826	0.213000	0.20722	-0.481000	0.04817	CCA	-	NULL		0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	protein_coding	OTTHUMT00000141127.3	C		-		55179409	1	no_errors	ENST00000270452	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55179409	C	T	55179409	3	4	196	1	0	0	0	0	1	0	0	0	8795	594	21	2	1332	2	LILRB4	19	55179409	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	395615	55179409	3949574	2117	15389											
FCAR	2204	genome.wustl.edu	37	chr19	55385770	55385770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaaacagaccaccctcCtgtgtcttggtgagtttcag	8	14	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55385770C>T	ENST00000355524.3	+	1	35	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	FCAR_ENST00000391723.3_Silent_p.L9L|FCAR_ENST00000345937.4_Silent_p.L9L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.L9L|FCAR_ENST00000391725.3_Silent_p.L9L|FCAR_ENST00000391726.3_Silent_p.L9L|FCAR_ENST00000353758.4_Silent_p.L9L|FCAR_ENST00000359272.4_Silent_p.L9L|FCAR_ENST00000469767.1_Silent_p.L9L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	9					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACCACCCTCCTGTGTCTTGG	0.463																																																	0								ENSG00000186431						128	115	119					19																	55385770		2203	4300	6503	FCAR	SO:0001819	synonymous_variant	0			-	HGNC	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.25C>T	19.37:g.55385770C>T		Somatic	0	99	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Silent	SNP							smart_Ig_sub	p.L9	ENST00000355524.3	37	c.25	CCDS12907.1	19																																																																																			-	NULL		0.463	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	protein_coding	OTTHUMT00000141243.1	C	NM_002000	-		55385770	1	no_errors	ENST00000355524	ensembl	human	known	74_37	silent	SNP	0.000	T	T	55385770	C	T	55385770	2	4	196	1	0	0	0	0	0	0	0	1	5775	680	24	2		2	FCAR	19	55385770	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	206361	55385770	3743213	2118	15390											
NLRP7	199713	genome.wustl.edu	37	chr19	55450638	55450638	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaataagaagtgtcctacttGaatcaggtcggggttcttga	12	6	2	3	rs375006955		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55450638G>A	ENST00000590030.1	-	3	1589	c.1549C>T	c.(1549-1551)Caa>Taa	p.Q517*	NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.Q545*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	517							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCTACTTGAATCAGGTCG	0.557																																																	0								ENSG00000167634						82	82	82					19																	55450638		2203	4300	6503	NLRP7	SO:0001587	stop_gained	0			-	HGNC	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1549C>T	19.37:g.55450638G>A	ENSP00000465520:p.Gln517*	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q545*	ENST00000590030.1	37	c.1633	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647850	0.87958	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	2.34	2.34	0.29019	.	1.534060	0.04614	N	0.400720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	8.2529	0.31737	0.0:0.0:1.0:0.0	.	.	.	.	X	517;517;517;545;284	.	ENSP00000329568:Q517X	Q	-	1	0	NLRP7	60142450	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-0.650000	0.05378	1.629000	0.50426	0.462000	0.41574	CAA	-	NULL		0.557	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	protein_coding	OTTHUMT00000451396.1	G	NM_139176	-		55450638	-1	no_errors	ENST00000446217	ensembl	human	known	74_37	nonsense	SNP	0.022	A	A	55450638	G	A	55450638	4	1	196	1	0	0	0	0	0	1	0	0	10484	1299	45	2	1596	2	NLRP7	19	55450638	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	64868	55450638	3678345	2119	15391											
NLRP7	199713	genome.wustl.edu	37	chr19	55450872	55450872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcggactcctgcacccCgagcctttccaggtcctctc	10	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55450872C>T	ENST00000590030.1	-	3	1355	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	NLRP7_ENST00000448121.2_Missense_Mutation_p.G439R|NLRP7_ENST00000340844.2_Missense_Mutation_p.G439R|NLRP7_ENST00000328092.5_Missense_Mutation_p.G439R|NLRP7_ENST00000588756.1_Missense_Mutation_p.G439R|NLRP7_ENST00000592784.1_Missense_Mutation_p.G439R|NLRP7_ENST00000446217.1_Missense_Mutation_p.G467R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.G439W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCTGCACCCCGAGCCTTTCC	0.662																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000167634						39	34	36					19																	55450872		2203	4300	6503	NLRP7	SO:0001583	missense	0			-	HGNC	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1315G>A	19.37:g.55450872C>T	ENSP00000465520:p.Gly439Arg	Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G467R	ENST00000590030.1	37	c.1399	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032688	0.35893	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80214	-1.29;-1.29;-1.35;-1.34	2.16	1.1	0.20463	.	0.818060	0.09989	N	0.730008	T	0.79907	0.4527	L	0.52759	1.655	0.09310	N	1	D;D;D;D	0.63046	0.986;0.986;0.986;0.992	P;P;P;P	0.54100	0.699;0.557;0.557;0.742	T	0.66504	-0.5907	10	0.51188	T	0.08	.	4.8696	0.13625	0.0:0.8193:0.0:0.1807	.	467;439;439;439	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	439;439;439;467;206	ENSP00000329568:G439R;ENSP00000409137:G439R;ENSP00000339491:G439R;ENSP00000414273:G467R	ENSP00000329568:G439R	G	-	1	0	NLRP7	60142684	0.000000	0.05858	0.035000	0.18076	0.029000	0.11900	0.688000	0.25422	0.477000	0.27464	0.462000	0.41574	GGG	-	NULL		0.662	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	protein_coding	OTTHUMT00000451396.1	C	NM_139176	-		55450872	-1	no_errors	ENST00000446217	ensembl	human	known	74_37	missense	SNP	0.011	T	T	55450872	C	T	55450872	3	4	196	1	0	0	0	0	1	0	0	0	10484	652	23	1	1830	1	NLRP7	19	55450872	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	234	55450872	3678111	2120	15392											
PPP1R12C	54776	genome.wustl.edu	37	chr19	55605723	55605723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccacacctgtgtggacCtccgagactggcgcatgaga	11	15	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55605723C>T	ENST00000263433.3	-	13	1688	c.1673G>A	c.(1672-1674)aGg>aAg	p.R558K	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R484K|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R558K	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CTGTGTGGACCTCCGAGACTG	0.662																																																	0								ENSG00000125503						75	73	74					19																	55605723		2203	4300	6503	PPP1R12C	SO:0001583	missense	0			-	HGNC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1673G>A	19.37:g.55605723C>T	ENSP00000263433:p.Arg558Lys	Somatic	0	41	0		0.52429534266604	101	22.73	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67		Missense_Mutation	SNP							pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R558K	ENST00000263433.3	37	c.1673	CCDS12916.1	19	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687943	0.88639	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	D;D;D	0.90385	-2.46;-2.07;-2.66	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.75615	2.305	0.58432	D	0.999994	D;P;D	0.69078	0.997;0.953;0.997	D;D;D	0.72625	0.978;0.977;0.978	D	0.95192	0.8309	10	0.72032	D	0.01	.	15.6994	0.77533	0.0:1.0:0.0:0.0	.	484;557;558	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	K	558;558;484	ENSP00000263433:R558K;ENSP00000365573:R558K;ENSP00000387833:R484K	ENSP00000263433:R558K	R	-	2	0	PPP1R12C	60297535	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	6.354000	0.73036	2.390000	0.81377	0.561000	0.74099	AGG	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.662	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	protein_coding	OTTHUMT00000451814.2	C	NM_017607	-		55605723	-1	no_errors	ENST00000263433	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55605723	C	T	55605723	3	4	196	1	0	0	0	0	1	0	0	0	12361	681	24	2	715	2	PPP1R12C	19	55605723	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	154851	55605723	3523260	2121	15393											
BRSK1	84446	genome.wustl.edu	37	chr19	55817697	55817697	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccagtggcggcccctccgtCttccaaaagcccgtccgctt	10	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55817697C>T	ENST00000309383.1	+	17	2245	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	BRSK1_ENST00000590333.1_Silent_p.V672V|BRSK1_ENST00000326848.7_Silent_p.V351V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	656					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCCTCCGTCTTCCAAAAGC	0.642																																																	0								ENSG00000160469						60	58	59					19																	55817697		2203	4300	6503	BRSK1	SO:0001819	synonymous_variant	0			-	HGNC	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1968C>T	19.37:g.55817697C>T		Somatic	0	50	0		0.52429534266604	19	66.67	38	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	32	49.21	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.V672	ENST00000309383.1	37	c.2016	CCDS12921.1	19																																																																																			-	NULL		0.642	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	protein_coding	OTTHUMT00000452787.1	C	NM_032430	-		55817697	1	no_errors	ENST00000590333	ensembl	human	known	74_37	silent	SNP	1.000	T	T	55817697	C	T	55817697	2	4	196	1	0	0	0	0	0	0	0	1	1525	900	32	2		2	BRSK1	19	55817697	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	211974	55817697	3311286	2122	15394											
RPL28	6158	genome.wustl.edu	37	chr19	55898033	55898033	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagccgacggcaaaggTgtcgtggtggtcattaagcg	16	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55898033T>G	ENST00000344063.2	+	3	806	c.177T>G	c.(175-177)ggT>ggG	p.G59G	RPL28_ENST00000558131.1_Silent_p.G59G|RPL28_ENST00000431533.2_Silent_p.G59G|RPL28_ENST00000428193.2_Silent_p.G59G|RPL28_ENST00000560583.1_Silent_p.G59G|RPL28_ENST00000558815.1_Silent_p.G59G|RPL28_ENST00000560055.1_Silent_p.G59G|RPL28_ENST00000458349.2_Silent_p.G59G|RPL28_ENST00000558752.1_Silent_p.G59G|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000559463.1_Silent_p.G59G			P46779	RL28_HUMAN	ribosomal protein L28	59					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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		ACGGCAAAGGTGTCGTGGTGG	0.577																																																	0								ENSG00000108107						90	100	97					19																	55898033		2203	4300	6503	RPL28	SO:0001819	synonymous_variant	0			-	HGNC	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.177T>G	19.37:g.55898033T>G		Somatic	0	23	0		0.52429534266604	14147	22.11	4057	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Silent	SNP							NULL	p.G59	ENST00000344063.2	37	c.177	CCDS12924.1	19																																																																																			-	NULL		0.577	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	protein_coding	OTTHUMT00000416277.2	T	NM_000991	-		55898033	1	no_errors	ENST00000458349	ensembl	human	known	74_37	silent	SNP	0.318	G	G	55898033	T	G	55898033	2	3	196	1	0	0	0	0	0	0	0	1	13585	1683	59	5		5	RPL28	19	55898033	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	80336	55898033	3230950	2123	15395											
NLRP11	204801	genome.wustl.edu	37	chr19	56320365	56320365	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcatatggtgcgtcaacttTtccgggtcacggtccaaatg	12	10	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56320365T>A	ENST00000589093.1	-	3	1704	c.1611A>T	c.(1609-1611)gaA>gaT	p.E537D	NLRP11_ENST00000589824.2_Missense_Mutation_p.E537D|NLRP11_ENST00000592953.1_Missense_Mutation_p.E438D|NLRP11_ENST00000360133.3_Missense_Mutation_p.E537D|NLRP11_ENST00000443188.1_Missense_Mutation_p.E537D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	537							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)		GCGTCAACTTTTCCGGGTCAC	0.443																																																	0								ENSG00000179873						164	153	157					19																	56320365		2203	4300	6503	NLRP11	SO:0001583	missense	0			-	HGNC	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.1611A>T	19.37:g.56320365T>A	ENSP00000466285:p.Glu537Asp	Somatic	0	13	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E537D	ENST00000589093.1	37	c.1611	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	T	3.195	-0.164867	0.06502	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.75260	-0.92;-0.83	1.99	-1.65	0.08291	.	.	.	.	.	T	0.48259	0.1490	N	0.14661	0.345	0.09310	N	1	B;B	0.33345	0.286;0.409	B;B	0.32624	0.104;0.149	T	0.35425	-0.9789	9	0.16896	T	0.51	.	3.145	0.06468	0.0:0.3372:0.2818:0.381	.	537;537	P59045;P59045-2	NAL11_HUMAN;.	D	537	ENSP00000409898:E537D;ENSP00000353251:E537D	ENSP00000353251:E537D	E	-	3	2	NLRP11	61012177	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.761000	0.00786	-0.541000	0.06257	-1.407000	0.01130	GAA	-	NULL		0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	protein_coding	OTTHUMT00000453657.1	T	NM_145007	-		56320365	-1	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	SNP	0.000	A	A	56320365	T	A	56320365	3	1	196	1	0	0	0	0	1	0	0	0	10475	1838	64	5	1522	5	NLRP11	19	56320365	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	422332	56320365	2808618	2124	15396											
NLRP4	147945	genome.wustl.edu	37	chr19	56392906	56392906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagagagaaatcctaacCtgaccatcacagacgactgt	9	10	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56392906C>T	ENST00000301295.6	+	10	3360	c.2938C>T	c.(2938-2940)Ctg>Ttg	p.L980L	NLRP4_ENST00000587891.1_Silent_p.L905L|NLRP4_ENST00000346986.5_Silent_p.L924L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	980					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATCCTAACCTGACCATCAC	0.463																																																	0								ENSG00000160505						90	73	79					19																	56392906		2203	4300	6503	NLRP4	SO:0001819	synonymous_variant	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2938C>T	19.37:g.56392906C>T		Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	73	15.91	Q86W87|Q96AY6	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L980	ENST00000301295.6	37	c.2938	CCDS12936.1	19																																																																																			-	NULL		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	C	NM_134444	-		56392906	1	no_errors	ENST00000301295	ensembl	human	known	74_37	silent	SNP	0.000	T	T	56392906	C	T	56392906	2	4	196	1	0	0	0	0	0	0	0	1	10481	680	24	2		2	NLRP4	19	56392906	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	72541	56392906	2736077	2125	15397											
NLRP13	126204	genome.wustl.edu	37	chr19	56443432	56443432	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgccgaggaccactttCcatgcctgaccttttgggaa	10	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56443432C>T	ENST00000342929.3	-	1	245	c.246G>A	c.(244-246)tgG>tgA	p.W82*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.W82*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	82	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGACCACTTTCCATGCCTGAC	0.517																																																	0								ENSG00000173572						68	64	65					19																	56443432		2203	4300	6503	NLRP13	SO:0001587	stop_gained	0			-	HGNC	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.246G>A	19.37:g.56443432C>T	ENSP00000343891:p.Trp82*	Somatic	0	57	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	Q7RTR5	Nonsense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.W82*	ENST00000342929.3	37	c.246	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940270	0.52972	.	.	ENSG00000173572	ENST00000342929	.	.	.	1.97	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4755	0.27374	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000343891:W82X	W	-	3	0	NLRP13	61135244	0.031000	0.19500	0.012000	0.15200	0.003000	0.03518	1.391000	0.34475	1.422000	0.47177	0.591000	0.81541	TGG	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.517	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	C	NM_176810	-		56443432	-1	no_errors	ENST00000342929	ensembl	human	known	74_37	nonsense	SNP	0.013	T	T	56443432	C	T	56443432	4	4	196	1	0	0	0	0	0	1	0	0	10477	856	30	2	2927	2	NLRP13	19	56443432	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	50526	56443432	2685551	2126	15398											
NLRP8	126205	genome.wustl.edu	37	chr19	56467043	56467043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagccacgtgaatatccagcGcctgatagcgagtcccagag	12	12	0	3	rs372284254		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56467043G>C	ENST00000291971.3	+	3	1690	c.1619G>C	c.(1618-1620)cGc>cCc	p.R540P	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R540L(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)		AATATCCAGCGCCTGATAGCG	0.463																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000179709						104	101	102					19																	56467043		2203	4300	6503	NLRP8	SO:0001583	missense	0			-	HGNC	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.1619G>C	19.37:g.56467043G>C	ENSP00000291971:p.Arg540Pro	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	49	15.52	Q7RTR4	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R540P	ENST00000291971.3	37	c.1619	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600614	0.13939	.	.	ENSG00000179709	ENST00000291971	D	0.88277	-2.36	2.04	-1.42	0.08913	.	.	.	.	.	D	0.86037	0.5837	L	0.39147	1.195	0.09310	N	1	D;P	0.62365	0.991;0.592	P;B	0.55112	0.769;0.31	T	0.75572	-0.3271	9	0.30854	T	0.27	.	5.0065	0.14291	0.5224:0.0:0.4776:0.0	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	P	540	ENSP00000291971:R540P	ENSP00000291971:R540P	R	+	2	0	NLRP8	61158855	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.459000	0.06728	-0.281000	0.09141	-0.346000	0.07831	CGC	-	NULL		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811	-		56467043	1	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	SNP	0.000	C	C	56467043	G	C	56467043	3	2	196	1	0	0	0	0	1	0	0	0	10485	1087	38	4	1629	4	NLRP8	19	56467043	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	23611	56467043	2661940	2127	15399											
ZNF471	57573	genome.wustl.edu	37	chr19	57035875	57035875	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtttagcaagaaagaaataAtcactcataaagaaaccatc	5	7	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57035875A>T	ENST00000308031.5	+	5	572	c.439A>T	c.(439-441)Atc>Ttc	p.I147F	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	147					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAAAGAAATAATCACTCATAA	0.328																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0								ENSG00000196263						62	60	61					19																	57035875		2203	4300	6503	ZNF471	SO:0001583	missense	0			-	HGNC	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.439A>T	19.37:g.57035875A>T	ENSP00000309161:p.Ile147Phe	Somatic	0	59	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I147F	ENST00000308031.5	37	c.439	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	A	7.797	0.712812	0.15306	.	.	ENSG00000196263	ENST00000308031	T	0.05717	3.4	4.1	0.644	0.17776	.	.	.	.	.	T	0.05044	0.0135	L	0.45137	1.4	0.09310	N	1	B	0.31125	0.309	B	0.26969	0.075	T	0.39603	-0.9606	9	0.33141	T	0.24	.	4.1412	0.10194	0.3621:0.3513:0.2866:0.0	.	147	Q9BX82	ZN471_HUMAN	F	147	ENSP00000309161:I147F	ENSP00000309161:I147F	I	+	1	0	ZNF471	61727687	0.000000	0.05858	0.150000	0.22450	0.357000	0.29423	-0.489000	0.06490	0.276000	0.22118	0.460000	0.39030	ATC	-	NULL		0.328	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	protein_coding	OTTHUMT00000458405.1	A	NM_020813	-		57035875	1	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	SNP	0.000	T	T	57035875	A	T	57035875	3	4	196	1	0	0	0	0	1	0	0	0	17937	101	4	5	453	5	ZNF471	19	57035875	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	568832	57035875	2093108	2128	15400											
ZNF471	57573	genome.wustl.edu	37	chr19	57036469	57036469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcacactggcaaaagaCcctatgaatgtattgagtgt	10	7	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57036469C>T	ENST00000308031.5	+	5	1166	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Silent_p.D204D	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGGCAAAAGACCCTATGAATG	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0								ENSG00000196263						50	54	53					19																	57036469		2203	4300	6503	ZNF471	SO:0001583	missense	0			-	HGNC	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1033C>T	19.37:g.57036469C>T	ENSP00000309161:p.Pro345Ser	Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P345S	ENST00000308031.5	37	c.1033	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222316	0.58560	.	.	ENSG00000196263	ENST00000308031	T	0.28454	1.61	3.85	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44850	0.1313	M	0.66378	2.025	0.80722	D	1	D	0.52996	0.957	P	0.52672	0.706	T	0.51301	-0.8723	9	0.62326	D	0.03	.	14.6793	0.69004	0.0:1.0:0.0:0.0	.	345	Q9BX82	ZN471_HUMAN	S	345	ENSP00000309161:P345S	ENSP00000309161:P345S	P	+	1	0	ZNF471	61728281	0.504000	0.26123	0.906000	0.35671	0.988000	0.76386	2.652000	0.46682	1.978000	0.57642	0.462000	0.41574	CCC	-	pfscan_Znf_C2H2		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	protein_coding	OTTHUMT00000458405.1	C	NM_020813	-		57036469	1	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	SNP	0.998	T	T	57036469	C	T	57036469	3	4	196	1	0	0	0	0	1	0	0	0	17937	507	18	2	1047	2	ZNF471	19	57036469	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	594	57036469	2092514	2129	15401											
ZNF71	58491	genome.wustl.edu	37	chr19	57133647	57133647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctacgtgtgcggcgagtGcggcaaggccttcagccaga	15	13	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57133647G>A	ENST00000328070.6	+	3	1226	c.992G>A	c.(991-993)tGc>tAc	p.C331Y		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	331					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCGGCGAGTGCGGCAAGGCC	0.637																																																	0								ENSG00000197951						87	79	82					19																	57133647		2203	4300	6503	ZNF71	SO:0001583	missense	0			-	HGNC	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.992G>A	19.37:g.57133647G>A	ENSP00000328245:p.Cys331Tyr	Somatic	0	40	0		0.52429534266604	21	12.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C331Y	ENST00000328070.6	37	c.992	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757034	0.69648	.	.	ENSG00000197951	ENST00000328070	D	0.85861	-2.04	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94235	0.8149	H	0.96239	3.79	0.39867	D	0.973454	D	0.89917	1.0	D	0.91635	0.999	D	0.95804	0.8835	9	0.72032	D	0.01	.	12.5989	0.56487	0.0:0.0:1.0:0.0	.	331	Q9NQZ8	ZNF71_HUMAN	Y	331	ENSP00000328245:C331Y	ENSP00000328245:C331Y	C	+	2	0	ZNF71	61825459	1.000000	0.71417	0.922000	0.36590	0.806000	0.45545	6.624000	0.74243	1.921000	0.55644	0.561000	0.74099	TGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	protein_coding	OTTHUMT00000459798.2	G	NM_021216	-		57133647	1	no_errors	ENST00000328070	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57133647	G	A	57133647	3	1	196	1	0	0	0	0	1	0	0	0	18121	1319	46	2	994	2	ZNF71	19	57133647	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	97178	57133647	1995336	2130	15402											
PEG3	5178	genome.wustl.edu	37	chr19	57326065	57326065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctccagtaaatcatcttCcctatgaagtctcatatgct	5	12	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57326065C>T	ENST00000326441.9	-	10	4108	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1123K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1125K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1249K|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1249					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATCATCTTCCCTATGAAGT	0.488																																																	0								ENSG00000198300						49	44	46					19																	57326065		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3745G>A	19.37:g.57326065C>T	ENSP00000326581:p.Glu1249Lys	Somatic	0	38	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1249K	ENST00000326441.9	37	c.3745	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881838	0.33255	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	4.06	3.03	0.35002	Zinc finger, C2H2 (1);	0.464248	0.18333	N	0.144409	T	0.02012	0.0063	N	0.14661	0.345	.	.	.	B;P;P	0.40000	0.063;0.682;0.698	B;B;B	0.35312	0.026;0.15;0.2	T	0.42932	-0.9422	9	0.51188	T	0.08	-15.8613	10.287	0.43573	0.0:0.9011:0.0:0.0989	.	1125;1249;1184	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1249	ENSP00000326581:E1249K;ENSP00000403051:E1249K	ENSP00000326581:E1249K	E	-	1	0	ZIM2	62017877	0.000000	0.05858	0.020000	0.16555	0.684000	0.39900	0.060000	0.14342	1.295000	0.44724	0.655000	0.94253	GAA	-	pfscan_Znf_C2H2		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57326065	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	0.348	T	T	57326065	C	T	57326065	3	4	196	1	0	0	0	0	1	0	0	0	11722	864	30	2	1025	2	PEG3	19	57326065	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	192418	57326065	1802918	2131	15403											
PEG3	5178	genome.wustl.edu	37	chr19	57326183	57326183	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctctgcagcacgattcctCcgtggcttcatgggcaagag	11	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57326183C>T	ENST00000326441.9	-	10	3990	c.3627G>A	c.(3625-3627)cgG>cgA	p.R1209R	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.R1083R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.R1085R|PEG3_ENST00000423103.2_Silent_p.R1209R|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1209					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1209R(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACGATTCCTCCGTGGCTTCA	0.493																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000198300						116	112	114					19																	57326183		2203	4300	6503	PEG3	SO:0001819	synonymous_variant	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3627G>A	19.37:g.57326183C>T		Somatic	0	13	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R1209	ENST00000326441.9	37	c.3627	CCDS12948.1	19																																																																																			-	NULL		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	C		-		57326183	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	SNP	0.002	T	T	57326183	C	T	57326183	2	4	196	1	0	0	0	0	0	0	0	1	11722	842	30	2		2	PEG3	19	57326183	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	118	57326183	1802800	2132	15404											
ZNF17	7565	genome.wustl.edu	37	chr19	57932771	57932771	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcacactggagagagaccTtatcagtgcagtgaatgtgg	12	7	2	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57932771T>G	ENST00000601808.1	+	3	2124	c.1911T>G	c.(1909-1911)ccT>ccG	p.P637P	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Silent_p.P639P	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAGAGAGACCTTATCAGTGCA	0.388																																					Melanoma(149;1637 1853 29914 42869 44988)												0								ENSG00000186272						51	55	54					19																	57932771		2186	4294	6480	ZNF17	SO:0001819	synonymous_variant	0			-	HGNC	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1911T>G	19.37:g.57932771T>G		Somatic	0	62	0		0.52429534266604	6	66.67	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	50	32.43	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P637	ENST00000601808.1	37	c.1911	CCDS42636.1	19																																																																																			-	pfscan_Znf_C2H2		0.388	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	protein_coding	OTTHUMT00000466384.1	T	NM_006959	-		57932771	1	no_errors	ENST00000601808	ensembl	human	known	74_37	silent	SNP	0.000	G	G	57932771	T	G	57932771	2	3	196	1	0	0	0	0	0	0	0	1	17750	1596	56	5		5	ZNF17	19	57932771	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	606588	57932771	1196212	2133	15405											
VN1R1	57191	genome.wustl.edu	37	chr19	57967362	57967362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaagtcaataaaccttgGggatctaatcttgatctcca	7	9	4	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57967362G>A	ENST00000321039.3	-	1	492	c.493C>T	c.(493-495)Cca>Tca	p.P165S	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	165					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAACCTTGGGGATCTAATC	0.458																																																	0								ENSG00000178201						97	88	91					19																	57967362		2203	4300	6503	VN1R1	SO:0001583	missense	0			-	HGNC	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.493C>T	19.37:g.57967362G>A	ENSP00000322339:p.Pro165Ser	Somatic	0	56	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	51	41.57	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP							pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.P165S	ENST00000321039.3	37	c.493	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375166	0.24857	.	.	ENSG00000178201	ENST00000321039	T	0.08282	3.11	4.24	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08179	0.0204	L	0.31120	0.905	0.09310	N	1	P	0.34724	0.465	B	0.37550	0.253	T	0.28332	-1.0047	9	0.51188	T	0.08	.	10.2474	0.43350	0.0988:0.0:0.9012:0.0	.	165	Q9GZP7	VN1R1_HUMAN	S	165	ENSP00000322339:P165S	ENSP00000322339:P165S	P	-	1	0	VN1R1	62659174	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.811000	0.27198	1.145000	0.42336	0.644000	0.83932	CCA	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	protein_coding	OTTHUMT00000466464.1	G	NM_020633	-		57967362	-1	no_errors	ENST00000321039	ensembl	human	known	74_37	missense	SNP	0.007	A	A	57967362	G	A	57967362	3	1	196	1	0	0	0	0	1	0	0	0	17185	1232	43	2	572	2	VN1R1	19	57967362	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	34591	57967362	1161621	2134	15406											
ZNF549	256051	genome.wustl.edu	37	chr19	58046563	58046563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctcccaggaggagtggGgcctccttgatgaagctcaa	12	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:58046563G>A	ENST00000376233.3	+	3	305	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Missense_Mutation_p.G42S|ZNF549_ENST00000240719.3_Missense_Mutation_p.G29S	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	42	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(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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)		GGAGGAGTGGGGCCTCCTTGA	0.488																																																	0								ENSG00000121406						185	153	164					19																	58046563		2203	4300	6503	ZNF549	SO:0001583	missense	0			-	HGNC	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.124G>A	19.37:g.58046563G>A	ENSP00000365407:p.Gly42Ser	Somatic	0	73	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	62	32.61	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G42S	ENST00000376233.3	37	c.124	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	G	8.719	0.914003	0.17907	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.01902	4.57;4.57	2.48	-1.53	0.08611	Krueppel-associated box (4);	.	.	.	.	T	0.02304	0.0071	M	0.66939	2.045	0.21697	N	0.999582	P;B	0.36010	0.532;0.198	B;B	0.32928	0.063;0.155	T	0.44528	-0.9322	9	0.12430	T	0.62	.	4.1166	0.10084	0.2661:0.2173:0.5167:0.0	.	42;29	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	S	29;42	ENSP00000240719:G29S;ENSP00000365407:G42S	ENSP00000240719:G29S	G	+	1	0	ZNF549	62738375	0.176000	0.23096	0.338000	0.25549	0.935000	0.57460	0.145000	0.16157	-0.382000	0.07870	-0.211000	0.12701	GGC	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.488	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	protein_coding	OTTHUMT00000466780.1	G	NM_153263	-		58046563	1	no_errors	ENST00000376233	ensembl	human	known	74_37	missense	SNP	0.522	A	A	58046563	G	A	58046563	3	1	196	1	0	0	0	0	1	0	0	0	17988	1232	43	2	91	2	ZNF549	19	58046563	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	79201	58046563	1082420	2135	15407											
ZNF551	90233	genome.wustl.edu	37	chr19	58198800	58198800	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgacaccagagagttcactCtggagaaaggccttatcagt	10	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:58198800C>T	ENST00000282296.5	+	3	1342	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S370F|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	386					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAGTTCACTCTGGAGAAAGG	0.448																																																	0								ENSG00000204519						78	81	80					19																	58198800		2203	4300	6503	ZNF551	SO:0001583	missense	0			-	HGNC	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1157C>T	19.37:g.58198800C>T	ENSP00000282296:p.Ser386Phe	Somatic	0	55	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	28	51.72	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S386F	ENST00000282296.5	37	c.1157	CCDS12959.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.88|14.88	2.668100|2.668100	0.47677|0.47677	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.6|2.6	1.55|1.55	0.23275|0.23275	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.800241|.	0.10889|.	U|.	0.622926|.	T|T	0.47911|0.47911	0.1471|0.1471	M|M	0.70787|0.70787	2.145|2.145	0.27148|0.27148	N|N	0.961491|0.961491	.|P	.|0.42203	.|0.773	.|P	.|0.46940	.|0.532	T|T	0.42632|0.42632	-0.9440|-0.9440	7|8	0.06625|0.87932	T|D	0.88|0	.|.	8.3031|8.3031	0.32025|0.32025	0.0:0.8721:0.0:0.1279|0.0:0.8721:0.0:0.1279	.|.	.|386	.|Q7Z340	.|ZN551_HUMAN	K|F	202|386;370;169	.|.	ENSP00000437781:R202K|ENSP00000282296:S370F	R|S	-|+	2|2	0|0	AC004017.1|ZNF551	62890612|62890612	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.190000|0.190000	0.23558|0.23558	1.026000|1.026000	0.30103|0.30103	0.428000|0.428000	0.26173|0.26173	0.561000|0.561000	0.74099|0.74099	AGA|TCT	-	pfscan_Znf_C2H2		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	protein_coding	OTTHUMT00000466803.2	C	NM_138347	-		58198800	1	no_errors	ENST00000282296	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58198800	C	T	58198800	3	4	196	1	0	0	0	0	1	0	0	0	17990	913	32	2	1119	2	ZNF551	19	58198800	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	152237	58198800	930183	2136	15408											
ZNF671	79891	genome.wustl.edu	37	chr19	58232718	58232718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaaaagtctctcctacCtttcccacatgtgagggtct	9	12	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:58232718C>A	ENST00000317398.6	-	4	831	c.736G>T	c.(736-738)Ggt>Tgt	p.G246C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.G148C	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTCTCCTACCTTTCCCACAT	0.527																																																	0								ENSG00000083814						81	76	78					19																	58232718		2203	4300	6503	ZNF671	SO:0001583	missense	0			-	HGNC		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.736G>T	19.37:g.58232718C>A	ENSP00000321848:p.Gly246Cys	Somatic	0	35	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A6NF07|Q9H5E9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G246C	ENST00000317398.6	37	c.736	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944750	0.02304	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.01647	4.74;4.71	1.43	-2.85	0.05734	.	.	.	.	.	T	0.00384	0.0012	N	0.00081	-2.22	0.09310	N	1	B	0.23591	0.088	B	0.16722	0.016	T	0.30534	-0.9975	9	0.02654	T	1	.	5.193	0.15220	0.154:0.6112:0.0:0.2348	.	246	Q8TAW3	ZN671_HUMAN	C	246;148	ENSP00000321848:G246C;ENSP00000338670:G148C	ENSP00000321848:G246C	G	-	1	0	ZNF671	62924530	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.350000	0.02624	-2.673000	0.00413	-1.583000	0.00853	GGT	-	NULL		0.527	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	protein_coding	OTTHUMT00000466817.1	C	NM_024833	-		58232718	-1	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58232718	C	A	58232718	3	1	196	1	0	0	0	0	1	0	0	0	18085	681	24	3	872	3	ZNF671	19	58232718	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	33918	58232718	896265	2137	15409											
DEFB125	245938	genome.wustl.edu	37	chr20	76647	76647	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatattttattctctacaggTagctttgaaccccaaaaatg	5	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:76647T>A	ENST00000382410.2	+	2	60	c.60T>A	c.(58-60)ggT>ggA	p.G20G	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	20					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TCTCTACAGGTAGCTTTGAAC	0.323																																																	0								ENSG00000178591						80	80	80					20																	76647		2203	4300	6503	DEFB125	SO:0001630	splice_region_variant	0			-	HGNC	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.59-1T>A	20.37:g.76647T>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	A1A502|Q7Z7B9	Silent	SNP							NULL	p.G20	ENST00000382410.2	37	c.60	CCDS12989.2	20																																																																																			-	NULL		0.323	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	protein_coding	OTTHUMT00000077426.2	T	NM_153325	-	Silent	76647	1	no_errors	ENST00000382410	ensembl	human	known	74_37	silent	SNP	0.249	A	A	76647	T	A	76647	5	1	196	1	0	0	0	0	0	0	1	0	4413	1652	57	5	66	5	DEFB125	20	76647	Splice_Site	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09		76647	62948873	2138	15410											
C20orf96	140680	genome.wustl.edu	37	chr20	257745	257745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtcagacaaggattcCaggacctttctgcgcatctc	8	12	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:257745C>T	ENST00000360321.2	-	8	903	c.765G>A	c.(763-765)ctG>ctA	p.L255L	C20orf96_ENST00000382369.5_Silent_p.L220L|C20orf96_ENST00000400269.3_Silent_p.L197L	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	255										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACAAGGATTCCAGGACCTTTC	0.547																																																	0								ENSG00000196476						139	154	149					20																	257745		2203	4300	6503	C20orf96	SO:0001819	synonymous_variant	0			-	HGNC	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.765G>A	20.37:g.257745C>T		Somatic	0	20	0		0.52429534266604	21	30	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	27	35.71	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP							NULL	p.L255	ENST00000360321.2	37	c.765	CCDS12994.1	20																																																																																			-	NULL		0.547	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	protein_coding	OTTHUMT00000077439.2	C	NM_153269	-		257745	-1	no_errors	ENST00000360321	ensembl	human	known	74_37	silent	SNP	0.762	T	T	257745	C	T	257745	2	4	196	1	0	0	0	0	0	0	0	1	2124	581	21	2		2	C20orf96	20	257745	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	181098	257745	62767775	2139	15411											
PSMF1	9491	genome.wustl.edu	37	chr20	1143805	1143805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccgtttgttgtcgggGgagaagacttagaccctttt	14	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1143805G>A	ENST00000335877.6	+	5	759	c.583G>A	c.(583-585)Gga>Aga	p.G195R	PSMF1_ENST00000381898.4_Missense_Mutation_p.G107R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G133R|PSMF1_ENST00000333082.3_Missense_Mutation_p.G195R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.G195R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	195	Pro-rich.				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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TGTTGTCGGGGGAGAAGACTT	0.507																																																	0								ENSG00000125818						155	109	125					20																	1143805		2203	4300	6503	PSMF1	SO:0001583	missense	0			-	HGNC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.583G>A	20.37:g.1143805G>A	ENSP00000338039:p.Gly195Arg	Somatic	0	85	0		0.52429534266604	256	38.22	159	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	82	25.45	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP							pfam_FP_dom,pfam_PI31_Prot_Reg	p.G195R	ENST00000335877.6	37	c.583	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280803	0.59758	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.40476	1.56;1.03;1.57;1.56;1.04	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	N	0.03881	-0.34	0.80722	D	1	P;D;D;P;P	0.89917	0.909;1.0;1.0;0.733;0.543	P;D;D;B;B	0.97110	0.666;1.0;1.0;0.376;0.287	T	0.26883	-1.0090	10	0.08381	T	0.77	-10.6408	16.8273	0.85934	0.0:0.0:1.0:0.0	.	133;107;107;195;195	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;.;PSMF1_HUMAN	R	195;107;195;195;133	ENSP00000327704:G195R;ENSP00000371323:G107R;ENSP00000246015:G195R;ENSP00000338039:G195R;ENSP00000401404:G133R	ENSP00000246015:G195R	G	+	1	0	PSMF1	1091805	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.096000	0.71446	2.735000	0.93741	0.561000	0.74099	GGA	-	pfam_PI31_Prot_Reg		0.507	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	protein_coding	OTTHUMT00000077504.2	G	NM_178578	-		1143805	1	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1143805	G	A	1143805	3	1	196	1	0	0	0	0	1	0	0	0	12715	1233	43	2	601	2	PSMF1	20	1143805	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	886060	1143805	61881715	2140	15412											
SDCBP2	27111	genome.wustl.edu	37	chr20	1299017	1299017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacttcttggctggagaggGaaagacccatataattttcc	11	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1299017G>A	ENST00000360779.3	-	4	343	c.170C>T	c.(169-171)tCc>tTc	p.S57F	SDCBP2_ENST00000381812.1_Missense_Mutation_p.S57F|SDCBP2_ENST00000339987.3_Missense_Mutation_p.S57F	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	57					intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCTGGAGAGGGAAAGACCCAT	0.473																																																	0								ENSG00000125775						83	84	83					20																	1299017		1876	4111	5987	SDCBP2	SO:0001583	missense	0			-	HGNC	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.170C>T	20.37:g.1299017G>A	ENSP00000354013:p.Ser57Phe	Somatic	0	15	0		0.52429534266604	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S57F	ENST00000360779.3	37	c.170	CCDS42848.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935214	0.52866	.	.	ENSG00000125775	ENST00000381812;ENST00000360779;ENST00000339987	T;T;T	0.33654	1.4;1.4;1.4	4.82	4.82	0.62117	.	0.219735	0.39687	N	0.001295	T	0.60869	0.2302	M	0.80982	2.52	0.43879	D	0.996494	D;B	0.89917	1.0;0.34	D;B	0.76575	0.988;0.091	T	0.65849	-0.6068	10	0.87932	D	0	-19.9261	13.2777	0.60196	0.0:0.0:1.0:0.0	.	57;57	B4DKI5;Q9H190	.;SDCB2_HUMAN	F	57	ENSP00000371233:S57F;ENSP00000354013:S57F;ENSP00000342935:S57F	ENSP00000342935:S57F	S	-	2	0	SDCBP2	1247017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.415000	0.59809	2.497000	0.84241	0.655000	0.94253	TCC	-	NULL		0.473	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	protein_coding	OTTHUMT00000077513.2	G	NM_080489	-		1299017	-1	no_errors	ENST00000339987	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1299017	G	A	1299017	3	1	196	1	0	0	0	0	1	0	0	0	13964	1174	41	2	732	2	SDCBP2	20	1299017	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	155212	1299017	61726503	2141	15413											
SIRPB2	284759	genome.wustl.edu	37	chr20	1460520	1460520	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatgggcattaccccaggGaaggagccacgtttaaagtt	11	9	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1460520G>A	ENST00000359801.3	-	2	312	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	85	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTACCCCAGGGAAGGAGCCAC	0.473																																																	0								ENSG00000196209						133	120	124					20																	1460520		1568	3582	5150	SIRPB2	SO:0001819	synonymous_variant	0			-	HGNC	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.276C>T	20.37:g.1460520G>A		Somatic	0	69	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	77	24.51	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F92	ENST00000359801.3	37	c.276	CCDS42849.1	20																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	protein_coding	OTTHUMT00000077544.1	G	NM_178459	-		1460520	-1	no_errors	ENST00000359801	ensembl	human	known	74_37	silent	SNP	0.978	A	A	1460520	G	A	1460520	2	1	196	1	0	0	0	0	0	0	0	1	14342	1165	41	2		2	SIRPB2	20	1460520	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	161503	1460520	61565000	2142	15414											
SIRPD	128646	genome.wustl.edu	37	chr20	1532496	1532496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttggtggtgtctccaatctCttttactctgggaaagttac	9	9	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1532496C>T	ENST00000381623.3	-	2	1451	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E88K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	88	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCTCCAATCTCTTTTACTCTG	0.453																																																	0								ENSG00000125900						163	161	162					20																	1532496		2203	4300	6503	SIRPD	SO:0001583	missense	0			-	HGNC	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.262G>A	20.37:g.1532496C>T	ENSP00000371036:p.Glu88Lys	Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	69	35.51	B3KS88|Q5TFQ6	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E88K	ENST00000381623.3	37	c.262	CCDS13018.1	20	.	.	.	.	.	.	.	.	.	.	.	9.793	1.178534	0.21787	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.40476	4.35;1.03	4.03	-8.07	0.01098	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.566690	0.04258	N	0.339788	T	0.13114	0.0318	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20538	-1.0272	10	0.07030	T	0.85	.	6.4671	0.21987	0.0:0.1933:0.3296:0.4771	.	88	Q9H106	SIRPD_HUMAN	K	88	ENSP00000371036:E88K;ENSP00000371034:E88K	ENSP00000371034:E88K	E	-	1	0	SIRPD	1480496	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-2.612000	0.00884	-1.808000	0.01234	-0.252000	0.11476	GAG	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.453	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPD	protein_coding	OTTHUMT00000077552.1	C	NM_178460	-		1532496	-1	no_errors	ENST00000381623	ensembl	human	known	74_37	missense	SNP	0.000	T	T	1532496	C	T	1532496	3	4	196	1	0	0	0	0	1	0	0	0	14343	922	32	2	343	2	SIRPD	20	1532496	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	71976	1532496	61493024	2143	15415											
PDYN	5173	genome.wustl.edu	37	chr20	1961226	1961226	+	Missense_Mutation	SNP	C	C	T													cccatagcgtttgacctgctCcttggggtcctcctcagcga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1961226C>T	ENST00000217305.2	-	4	733	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PDYN_ENST00000540134.1_Missense_Mutation_p.E170K|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.E170K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	170					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGACCTGCTCCTTGGGGTCC	0.592																																																	0								ENSG00000101327						106	105	106					20																	1961226		2203	4300	6503	PDYN	SO:0001583	missense	0			-	HGNC		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.508G>A	20.37:g.1961226C>T	ENSP00000217305:p.Glu170Lys	Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	69	15.85	A8K0Q3	Missense_Mutation	SNP							pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept	p.E170K	ENST00000217305.2	37	c.508	CCDS13023.1	20	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812672	0.32053	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80653	-1.4;-1.4;-1.4	4.86	3.91	0.45181	.	0.703759	0.12343	N	0.477325	T	0.69958	0.3169	L	0.39514	1.22	0.24893	N	0.992151	B	0.15473	0.013	B	0.08055	0.003	T	0.52909	-0.8512	10	0.10377	T	0.69	-5.1618	10.0358	0.42129	0.0:0.8994:0.0:0.1006	.	170	P01213	PDYN_HUMAN	K	170	ENSP00000440185:E170K;ENSP00000442259:E170K;ENSP00000217305:E170K	ENSP00000217305:E170K	E	-	1	0	PDYN	1909226	0.001000	0.12720	0.991000	0.47740	0.965000	0.64279	0.335000	0.19806	1.246000	0.43901	0.491000	0.48974	GAG	-	prints_Opioid_neupept		0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	protein_coding	OTTHUMT00000077569.2	C		-		1961226	-1	no_errors	ENST00000217305	ensembl	human	known	74_37	missense	SNP	0.932	T	T	1961226	C	T	1961226	3	4	196	1	0	0	0	0	1	0	0	0	11701	864	30	2	260	2	PDYN	20	1961226	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	428730	1961226	61064294	2144	15416	370	2									
PDYN	5173	genome.wustl.edu	37	chr20	1961227	1961227	+	Silent	SNP	C	C	T													ccatagcgtttgacctgctcCttggggtcctcctcagcgag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1961227C>T	ENST00000217305.2	-	4	732	c.507G>A	c.(505-507)aaG>aaA	p.K169K	PDYN_ENST00000540134.1_Silent_p.K169K|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Silent_p.K169K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	169					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCTGCTCCTTGGGGTCCT	0.597																																																	0								ENSG00000101327						106	105	105					20																	1961227		2203	4300	6503	PDYN	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.507G>A	20.37:g.1961227C>T		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	68	17.07	A8K0Q3	Silent	SNP							pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept	p.K169	ENST00000217305.2	37	c.507	CCDS13023.1	20																																																																																			-	NULL		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	protein_coding	OTTHUMT00000077569.2	C		-		1961227	-1	no_errors	ENST00000217305	ensembl	human	known	74_37	silent	SNP	0.932	T	T	1961227	C	T	1961227	2	4	196	1	0	0	0	0	0	0	0	1	11701	680	24	2		2	PDYN	20	1961227	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	1961227	61064293	2145	15417	370	2									
TMC2	117532	genome.wustl.edu	37	chr20	2539171	2539171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggaccccaggcaggcgcgGagctcagcgaagccagaagg	18	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:2539171G>A	ENST00000358864.1	+	3	167	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	51	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCAGGCGCGGAGCTCAGCGA	0.672																																																	0								ENSG00000149488						7	9	8					20																	2539171		2119	4156	6275	TMC2	SO:0001583	missense	0			-	HGNC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.152G>A	20.37:g.2539171G>A	ENSP00000351732:p.Gly51Glu	Somatic	0	52	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP							pfam_TMC	p.G51E	ENST00000358864.1	37	c.152	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	6.828	0.521918	0.13005	.	.	ENSG00000149488	ENST00000358864	T	0.63744	-0.06	4.39	2.43	0.29744	.	0.636281	0.15825	N	0.242817	T	0.42854	0.1221	L	0.47716	1.5	0.09310	N	1	P;B	0.37330	0.59;0.001	B;B	0.30646	0.118;0.0	T	0.22173	-1.0224	10	0.08381	T	0.77	0.1792	5.736	0.18067	0.2354:0.0:0.7646:0.0	.	51;51	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	E	51	ENSP00000351732:G51E	ENSP00000351732:G51E	G	+	2	0	TMC2	2487171	0.005000	0.15991	0.036000	0.18154	0.005000	0.04900	0.455000	0.21843	1.156000	0.42514	0.455000	0.32223	GGA	-	NULL		0.672	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	protein_coding	OTTHUMT00000077601.2	G		-		2539171	1	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	SNP	0.026	A	A	2539171	G	A	2539171	3	1	196	1	0	0	0	0	1	0	0	0	15992	1174	41	2	162	2	TMC2	20	2539171	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	577944	2539171	60486349	2146	15418											
CPXM1	56265	genome.wustl.edu	37	chr20	2776316	2776316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtcctggctgtggcagGgtcggcggctggtgtcctgc	18	10	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:2776316G>A	ENST00000380605.2	-	11	1713	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	550					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTGTGGCAGGGTCGGCGGCT	0.627																																																	0								ENSG00000088882						59	51	53					20																	2776316		2203	4300	6503	CPXM1	SO:0001583	missense	0			-	HGNC	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1649C>T	20.37:g.2776316G>A	ENSP00000369979:p.Pro550Leu	Somatic	0	56	0		0.52429534266604	718	51.19	753	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	47	40.51	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.P550L	ENST00000380605.2	37	c.1649	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557636	0.27827	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	D	0.95588	-3.75	5.15	4.2	0.49525	Peptidase M14, carboxypeptidase A (2);	0.611557	0.17853	N	0.159778	D	0.93099	0.7803	M	0.72894	2.215	0.49299	D	0.999777	B	0.09022	0.002	B	0.12156	0.007	D	0.88715	0.3225	10	0.23891	T	0.37	-12.3612	8.0161	0.30383	0.1804:0.0:0.8196:0.0	.	550	Q96SM3	CPXM1_HUMAN	L	550;246	ENSP00000369979:P550L	ENSP00000369979:P550L	P	-	2	0	CPXM1	2724316	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	-0.074000	0.11450	1.407000	0.46875	0.563000	0.77884	CCC	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.627	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	protein_coding	OTTHUMT00000077643.2	G	NM_019609	-		2776316	-1	no_errors	ENST00000380605	ensembl	human	known	74_37	missense	SNP	0.900	A	A	2776316	G	A	2776316	3	1	196	1	0	0	0	0	1	0	0	0	3839	1232	43	2	571	2	CPXM1	20	2776316	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	237145	2776316	60249204	2147	15419											
PTPRA	5786	genome.wustl.edu	37	chr20	3017818	3017818	+	Silent	SNP	G	G	A													agcgccggggcaggaaggacGgggaccttctgtgccctgag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3017818G>A	ENST00000216877.6	+	22	2590	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	PTPRA_ENST00000358719.4_Silent_p.T595T|PTPRA_ENST00000380393.3_Silent_p.T739T|PTPRA_ENST00000356147.3_Silent_p.T730T|PTPRA_ENST00000318266.5_Silent_p.T730T|PTPRA_ENST00000425918.2_Silent_p.T750T|PTPRA_ENST00000399903.2_Silent_p.T739T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	739	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGAAGGACGGGGACCTTCT	0.592																																																	0								ENSG00000132670						121	94	103					20																	3017818		2203	4300	6503	PTPRA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2190G>A	20.37:g.3017818G>A		Somatic	0	37	0		0.52429534266604	158	25.12	53	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	30.19	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP							pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T750	ENST00000216877.6	37	c.2250	CCDS13039.1	20																																																																																			-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	G		-		3017818	1	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	SNP	0.003	A	A	3017818	G	A	3017818	2	1	196	1	0	0	0	0	0	0	0	1	12803	1103	39	1		1	PTPRA	20	3017818	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	241502	3017818	60007702	2148	15420	371	2									
PTPRA	5786	genome.wustl.edu	37	chr20	3017819	3017819	+	Missense_Mutation	SNP	G	G	A													gcgccggggcaggaaggacgGggaccttctgtgccctgagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3017819G>A	ENST00000216877.6	+	22	2591	c.2191G>A	c.(2191-2193)Ggg>Agg	p.G731R	PTPRA_ENST00000358719.4_Missense_Mutation_p.G596R|PTPRA_ENST00000380393.3_Missense_Mutation_p.G740R|PTPRA_ENST00000356147.3_Missense_Mutation_p.G731R|PTPRA_ENST00000318266.5_Missense_Mutation_p.G731R|PTPRA_ENST00000425918.2_Missense_Mutation_p.G751R|PTPRA_ENST00000399903.2_Missense_Mutation_p.G740R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	740	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGAAGGACGGGGACCTTCTG	0.592																																																	0								ENSG00000132670						122	95	104					20																	3017819		2203	4300	6503	PTPRA	SO:0001583	missense	0			-	HGNC		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2191G>A	20.37:g.3017819G>A	ENSP00000216877:p.Gly731Arg	Somatic	0	37	0		0.52429534266604	158	26.17	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP							pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G751R	ENST00000216877.6	37	c.2251	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.441270	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	T	0.73923	0.3649	H	0.99746	4.745	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	0.85919	0.1445	10	0.87932	D	0	.	20.3078	0.98634	0.0:0.0:1.0:0.0	.	751;740;731	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	740;731;740;596;350;751;731;731	ENSP00000369756:G740R;ENSP00000216877:G731R;ENSP00000382787:G740R;ENSP00000351559:G596R;ENSP00000393553:G751R;ENSP00000314568:G731R;ENSP00000348468:G731R	ENSP00000216877:G731R	G	+	1	0	PTPRA	2965819	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	9.796000	0.99103	2.794000	0.96219	0.650000	0.86243	GGG	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	G		-		3017819	1	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3017819	G	A	3017819	3	1	196	1	0	0	0	0	1	0	0	0	12803	1232	43	2	2296	2	PTPRA	20	3017819	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	3017819	60007701	2149	15421	371	2									
SLC4A11	83959	genome.wustl.edu	37	chr20	3210075	3210075	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcagtcggacaggatctctCgcacgcaggggtgcaggtag	16	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3210075C>G	ENST00000380056.3	-	14	1861	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R589P|SLC4A11_ENST00000380059.3_Missense_Mutation_p.R632P	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	605	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAGGATCTCTCGCACGCAGGG	0.667																																					NSCLC(190;922 2139 10266 10292 38692)												0								ENSG00000088836						63	59	60					20																	3210075		2203	4300	6503	SLC4A11	SO:0001583	missense	0			-	HGNC	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1814G>C	20.37:g.3210075C>G	ENSP00000369396:p.Arg605Pro	Somatic	0	51	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	58	30.12	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.R632P	ENST00000380056.3	37	c.1895	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091710	0.55968	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.86562	-2.14;-2.14;-2.14	4.9	4.9	0.64082	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95274	0.8467	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.993	D	0.96614	0.9454	10	0.87932	D	0	.	18.0724	0.89413	0.0:1.0:0.0:0.0	.	589;632;605	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	P	632;605;589	ENSP00000369399:R632P;ENSP00000369396:R605P;ENSP00000441370:R589P	ENSP00000369396:R605P	R	-	2	0	SLC4A11	3158075	1.000000	0.71417	0.304000	0.25085	0.102000	0.19082	7.770000	0.85390	2.261000	0.74972	0.462000	0.41574	CGA	-	pfam_HCO3_transpt_C		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	protein_coding	OTTHUMT00000077728.1	C		-		3210075	-1	no_errors	ENST00000380059	ensembl	human	known	74_37	missense	SNP	1.000	G	G	3210075	C	G	3210075	3	3	196	1	0	0	0	0	1	0	0	0	14660	884	31	4	885	4	SLC4A11	20	3210075	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	192256	3210075	59815445	2150	15422											
ATRN	8455	genome.wustl.edu	37	chr20	3542927	3542927	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtctttcctttccagataaGaacacatggagtatattaca	6	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3542927G>A	ENST00000262919.5	+	9	1520	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ATRN_ENST00000446916.2_Silent_p.K484K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	484					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCCAGATAAGAACACATGGA	0.483																																																	0								ENSG00000088812						233	221	225					20																	3542927		2203	4300	6503	ATRN	SO:0001819	synonymous_variant	0			-	HGNC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1452G>A	20.37:g.3542927G>A		Somatic	0	73	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	61	38.38	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP							pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.K484	ENST00000262919.5	37	c.1452	CCDS13053.1	20																																																																																			-	NULL		0.483	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	G	NM_139321	-		3542927	1	no_errors	ENST00000262919	ensembl	human	known	74_37	silent	SNP	0.872	A	A	3542927	G	A	3542927	2	1	196	1	0	0	0	0	0	0	0	1	1206	933	33	2		2	ATRN	20	3542927	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	332852	3542927	59482593	2151	15423											
ATRN	8455	genome.wustl.edu	37	chr20	3562929	3562929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattctgtggaattttatcaGaacccagtactcggggactg	11	8	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3562929G>A	ENST00000262919.5	+	16	2760	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	ATRN_ENST00000446916.2_Missense_Mutation_p.E898K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	898	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATTTTATCAGAACCCAGTAC	0.478																																																	0								ENSG00000088812						101	95	97					20																	3562929		2203	4300	6503	ATRN	SO:0001583	missense	0			-	HGNC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2692G>A	20.37:g.3562929G>A	ENSP00000262919:p.Glu898Lys	Somatic	0	53	0		0.52429534266604	34	33.33	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	50	38.27	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E898K	ENST00000262919.5	37	c.2692	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172186	0.57584	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18810	2.19;2.19	5.51	4.54	0.55810	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.167889	0.52532	D	0.000064	T	0.26484	0.0647	M	0.64997	1.995	0.58432	D	0.999999	B;P	0.38827	0.021;0.649	B;B	0.41510	0.013;0.359	T	0.03240	-1.1057	10	0.16896	T	0.51	-13.2141	15.78	0.78252	0.0:0.1368:0.8632:0.0	.	898;898	O75882;O75882-2	ATRN_HUMAN;.	K	898;898;824	ENSP00000262919:E898K;ENSP00000416587:E898K	ENSP00000262919:E898K	E	+	1	0	ATRN	3510929	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.766000	0.85320	1.289000	0.44618	0.650000	0.86243	GAA	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.478	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	G	NM_139321	-		3562929	1	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3562929	G	A	3562929	3	1	196	1	0	0	0	0	1	0	0	0	1206	943	33	2	2754	2	ATRN	20	3562929	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	20002	3562929	59462591	2152	15424											
ADAM33	80332	genome.wustl.edu	37	chr20	3652610	3652610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcaccacctggaaacaGgcctcgggagctgggtggga	16	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3652610G>A	ENST00000356518.2	-	15	1861	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	ADAM33_ENST00000350009.2_Silent_p.A540A|ADAM33_ENST00000379861.4_Silent_p.A540A|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	540	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCTGGAAACAGGCCTCGGGAG	0.667																																																	0								ENSG00000149451						23	19	21					20																	3652610		2173	4258	6431	ADAM33	SO:0001819	synonymous_variant	0			-	HGNC	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1620C>T	20.37:g.3652610G>A		Somatic	0	67	0		0.52429534266604	18	35.71	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	82	24.77	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A540	ENST00000356518.2	37	c.1620	CCDS13058.1	20																																																																																			-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.667	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	protein_coding	OTTHUMT00000077763.2	G	NM_025220	-		3652610	-1	no_errors	ENST00000356518	ensembl	human	known	74_37	silent	SNP	0.878	A	A	3652610	G	A	3652610	2	1	196	1	0	0	0	0	0	0	0	1	250	987	35	2		2	ADAM33	20	3652610	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	89681	3652610	59372910	2153	15425											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3677343	3677343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggacctctaacttcaggGagttggcctcagctttagcc	10	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3677343G>A	ENST00000344754.4	-	10	2572	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S858F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	858	Ig-like C2-type 8.				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)			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						TAACTTCAGGGAGTTGGCCTC	0.592																																																	0								ENSG00000088827						80	78	78					20																	3677343		2203	4300	6503	SIGLEC1	SO:0001583	missense	0			-	HGNC	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.2573C>T	20.37:g.3677343G>A	ENSP00000341141:p.Ser858Phe	Somatic	0	79	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	68	38.74	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S858F	ENST00000344754.4	37	c.2573	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315573	0.23908	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.74947	-0.89;-0.89	5.03	2.07	0.26955	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.750787	0.11490	N	0.558803	T	0.60996	0.2312	L	0.27053	0.805	0.30697	N	0.750708	B;B	0.16802	0.019;0.007	B;B	0.20955	0.032;0.009	T	0.57057	-0.7876	10	0.48119	T	0.1	.	8.4882	0.33084	0.2546:0.0:0.7454:0.0	.	858;858	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	F	858	ENSP00000341141:S858F;ENSP00000202578:S858F	ENSP00000202578:S858F	S	-	2	0	SIGLEC1	3625343	1.000000	0.71417	0.993000	0.49108	0.433000	0.31745	2.361000	0.44160	0.321000	0.23259	0.655000	0.94253	TCC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.592	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	protein_coding	OTTHUMT00000077761.2	G	NM_023068	-		3677343	-1	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3677343	G	A	3677343	3	1	196	1	0	0	0	0	1	0	0	0	14313	1174	41	2	2604	2	SIGLEC1	20	3677343	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	24733	3677343	59348177	2154	15426											
HSPA12B	116835	genome.wustl.edu	37	chr20	3721480	3721480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctccagcccggagcggtCcccagtgcctagcccacccg	12	19	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3721480C>T	ENST00000254963.2	+	3	207	c.62C>T	c.(61-63)tCc>tTc	p.S21F	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	21							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGGAGCGGTCCCCAGTGCCT	0.662																																																	0								ENSG00000132622						44	42	43					20																	3721480		2203	4300	6503	HSPA12B	SO:0001583	missense	0			-	HGNC	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.62C>T	20.37:g.3721480C>T	ENSP00000254963:p.Ser21Phe	Somatic	0	42	0		0.52429534266604	14	12.5	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	36	29.41	D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP							NULL	p.S21F	ENST00000254963.2	37	c.62	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073242	0.55646	.	.	ENSG00000132622	ENST00000254963	T	0.03663	3.85	4.3	4.3	0.51218	.	.	.	.	.	T	0.05318	0.0141	L	0.44542	1.39	0.22581	N	0.998963	B;B	0.33135	0.399;0.399	B;B	0.34242	0.178;0.178	T	0.26815	-1.0092	9	0.52906	T	0.07	.	12.4781	0.55825	0.0:1.0:0.0:0.0	.	21;21	B7ZLP2;Q96MM6	.;HS12B_HUMAN	F	21	ENSP00000254963:S21F	ENSP00000254963:S21F	S	+	2	0	HSPA12B	3669480	0.987000	0.35691	0.952000	0.39060	0.885000	0.51271	3.800000	0.55537	2.402000	0.81655	0.655000	0.94253	TCC	-	NULL		0.662	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	protein_coding	OTTHUMT00000077756.2	C	NM_052970	-		3721480	1	no_errors	ENST00000254963	ensembl	human	known	74_37	missense	SNP	0.102	T	T	3721480	C	T	3721480	3	4	196	1	0	0	0	0	1	0	0	0	7407	855	30	2	68	2	HSPA12B	20	3721480	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	44137	3721480	59304040	2155	15427											
FERMT1	55612	genome.wustl.edu	37	chr20	6088260	6088260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgccttgttccataagGgagcgtgaggagtctagcca	14	8	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:6088260G>A	ENST00000217289.4	-	6	1556	c.768C>T	c.(766-768)tcC>tcT	p.S256S	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	256	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTTCCATAAGGGAGCGTGAGG	0.338																																																	0								ENSG00000101311						57	56	57					20																	6088260		2203	4300	6503	FERMT1	SO:0001819	synonymous_variant	0			-	HGNC	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.768C>T	20.37:g.6088260G>A		Somatic	0	77	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	62	34.04	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S256	ENST00000217289.4	37	c.768	CCDS13098.1	20																																																																																			-	pfam_FERM_N,smart_Band_41_domain		0.338	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	protein_coding	OTTHUMT00000077908.2	G	NM_017671	-		6088260	-1	no_errors	ENST00000217289	ensembl	human	known	74_37	silent	SNP	0.950	A	A	6088260	G	A	6088260	2	1	196	1	0	0	0	0	0	0	0	1	5819	1219	43	2		2	FERMT1	20	6088260	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2366780	6088260	56937260	2156	15428											
FERMT1	55612	genome.wustl.edu	37	chr20	6096461	6096461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctgggtacttactcaGgattttgcagatatcactga	8	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:6096461G>A	ENST00000217289.4	-	3	1170	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	128	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TACTTACTCAGGATTTTGCAG	0.453																																																	0								ENSG00000101311						62	60	61					20																	6096461		2203	4300	6503	FERMT1	SO:0001819	synonymous_variant	0			-	HGNC	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.382C>T	20.37:g.6096461G>A		Somatic	0	25	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L128	ENST00000217289.4	37	c.382	CCDS13098.1	20																																																																																			-	pfam_FERM_N,smart_Band_41_domain		0.453	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	protein_coding	OTTHUMT00000077908.2	G	NM_017671	-		6096461	-1	no_errors	ENST00000217289	ensembl	human	known	74_37	silent	SNP	0.896	A	A	6096461	G	A	6096461	2	1	196	1	0	0	0	0	0	0	0	1	5819	991	35	2		2	FERMT1	20	6096461	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8201	6096461	56929059	2157	15429											
SNRPB2	6629	genome.wustl.edu	37	chr20	16721501	16721501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttataggttccctggcTtcaaggaagtacgtctggta	10	8	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:16721501T>C	ENST00000246071.6	+	7	745	c.529T>C	c.(529-531)Ttc>Ctc	p.F177L	SNRPB2_ENST00000377943.5_Missense_Mutation_p.F177L	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	177	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						GTTCCCTGGCTTCAAGGAAGT	0.393																																																	0								ENSG00000125870						103	94	97					20																	16721501		2203	4300	6503	SNRPB2	SO:0001583	missense	0			-	HGNC		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"RNA binding motif (RRM) containing"	11155	protein-coding gene	gene with protein product		603520	"small nuclear ribonucleoprotein polypeptide B2", "small nuclear ribonucleoprotein polypeptide B''"			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.529T>C	20.37:g.16721501T>C	ENSP00000246071:p.Phe177Leu	Somatic	0	27	0		0.52429534266604	357	39.12	230	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	19	53.66	B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F177L	ENST00000246071.6	37	c.529	CCDS13123.1	20	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446728	0.84101	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.15603	2.41;2.41	6.08	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.041245	0.85682	D	0.000000	T	0.14700	0.0355	N	0.05592	-0.015	0.80722	D	1	P	0.41131	0.739	P	0.48873	0.593	T	0.15378	-1.0439	10	0.41790	T	0.15	-11.2439	12.5561	0.56254	0.1248:0.0:0.0:0.8752	.	177	P08579	RU2B_HUMAN	L	177	ENSP00000367178:F177L;ENSP00000246071:F177L	ENSP00000246071:F177L	F	+	1	0	SNRPB2	16669501	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	7.649000	0.83500	1.082000	0.41137	0.533000	0.62120	TTC	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.393	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPB2	protein_coding	OTTHUMT00000078110.1	T	NM_003092	-		16721501	1	no_errors	ENST00000246071	ensembl	human	known	74_37	missense	SNP	1.000	C	C	16721501	T	C	16721501	3	2	196	1	0	0	0	0	1	0	0	0	14870	1609	56	5	551	5	SNRPB2	20	16721501	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	10625040	16721501	46304019	2158	15430											
PCSK2	5126	genome.wustl.edu	37	chr20	17462554	17462554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagaagggggtgctgaagGagtggaccctgatgctgcat	17	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:17462554G>A	ENST00000262545.2	+	12	2071	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	PCSK2_ENST00000377899.1_Missense_Mutation_p.E567K|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.E551K	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	586					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGTGCTGAAGGAGTGGACCCT	0.617																																																	0								ENSG00000125851						35	34	34					20																	17462554		2203	4300	6503	PCSK2	SO:0001583	missense	0			-	HGNC	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1756G>A	20.37:g.17462554G>A	ENSP00000262545:p.Glu586Lys	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E586K	ENST00000262545.2	37	c.1756	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867433	0.72065	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.63580	-0.05;-0.05;-0.05	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	L	0.41824	1.3	0.80722	D	1	B;B;B	0.31655	0.334;0.334;0.256	B;B;B	0.42245	0.381;0.268;0.304	T	0.63902	-0.6532	10	0.54805	T	0.06	-43.9631	18.6061	0.91266	0.0:0.0:1.0:0.0	.	551;567;586	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	K	567;586;551	ENSP00000367131:E567K;ENSP00000262545:E586K;ENSP00000437458:E551K	ENSP00000262545:E586K	E	+	1	0	PCSK2	17410554	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	GAG	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like		0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	protein_coding	OTTHUMT00000078120.2	G	NM_002594	-		17462554	1	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17462554	G	A	17462554	3	1	196	1	0	0	0	0	1	0	0	0	11603	1175	41	2	1802	2	PCSK2	20	17462554	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	741053	17462554	45562966	2159	15431											
CRNKL1	51340	genome.wustl.edu	37	chr20	20026105	20026105	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggcatacttgatccagttCttaacatcagggtgcacgag	11	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:20026105C>T	ENST00000377340.2	-	7	1162	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	CRNKL1_ENST00000377327.4_Silent_p.K365K|CRNKL1_ENST00000536226.1_Silent_p.K216K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	377					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGATCCAGTTCTTAACATCAG	0.408																																																	0								ENSG00000101343						138	133	135					20																	20026105		2203	4300	6503	CRNKL1	SO:0001819	synonymous_variant	0			-	HGNC	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1131G>A	20.37:g.20026105C>T		Somatic	0	81	0		0.52429534266604	30	28.57	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	69	40.68	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP							pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.K377	ENST00000377340.2	37	c.1131	CCDS33446.1	20																																																																																			-	pfam_HAT,smart_HAT		0.408	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	protein_coding	OTTHUMT00000127787.1	C		-		20026105	-1	no_errors	ENST00000377340	ensembl	human	known	74_37	silent	SNP	1.000	T	T	20026105	C	T	20026105	2	4	196	1	0	0	0	0	0	0	0	1	3893	912	32	2		2	CRNKL1	20	20026105	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2563551	20026105	42999415	2160	15432											
C20orf26	26074	genome.wustl.edu	37	chr20	20051575	20051575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttcctggactaccCcaactggaatgttgccaagc	9	15	0	0	rs17852602		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:20051575C>T	ENST00000245957.5	+	3	297	c.221C>T	c.(220-222)cCc>cTc	p.P74L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P74L|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.P74L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		74			P -> R (in dbSNP:rs17852602). {ECO:0000269|PubMed:15489334}.							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)		CTGGACTACCCCAACTGGAAT	0.498																																																	0								ENSG00000089101						103	87	92					20																	20051575		2203	4300	6503	C20orf26	SO:0001583	missense	0			-	HGNC																												ENST00000245957.5:c.221C>T	20.37:g.20051575C>T	ENSP00000245957:p.Pro74Leu	Somatic	0	47	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	43	34.85	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP							superfamily_Acyl_CoA_acyltransferase	p.P74L	ENST00000245957.5	37	c.221	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738424	0.89573	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.74976	-0.3480	10	0.87932	D	0	.	15.3966	0.74798	0.0:1.0:0.0:0.0	.	74;74;28;74	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	L	28;74;74;74;74;74;74;74	ENSP00000345553:P28L;ENSP00000245957:P74L;ENSP00000366521:P74L;ENSP00000366518:P74L;ENSP00000417086:P74L;ENSP00000414537:P74L	ENSP00000245957:P74L	P	+	2	0	C20orf26	19999575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.812000	0.62613	2.717000	0.92951	0.655000	0.94253	CCC	-	NULL		0.498	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	protein_coding	OTTHUMT00000078228.3	C		-		20051575	1	no_errors	ENST00000245957	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20051575	C	T	20051575	3	4	196	1	0	0	0	0	1	0	0	0	2108	623	22	2	227	2	C20orf26	20	20051575	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	25470	20051575	42973945	2161	15433											
PAX1	5075	genome.wustl.edu	37	chr20	21695441	21695441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctctgaacttgggttttaGactgccgtaccctcctcaca	7	13	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:21695441G>A	ENST00000398485.2	+	5	1659	c.1605G>A	c.(1603-1605)taG>taA	p.*535*	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	0					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTGGGTTTTAGACTGCCGTAC	0.567																																																	0								ENSG00000125813						63	55	58					20																	21695441		2203	4300	6503	PAX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1605G>A	20.37:g.21695441G>A		Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP							pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.*535	ENST00000398485.2	37	c.1605	CCDS13146.2	20																																																																																			-	NULL		0.567	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	protein_coding	OTTHUMT00000078282.3	G		-		21695441	1	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	SNP	0.000	A	A	21695441	G	A	21695441	2	1	196	1	0	0	0	0	0	0	0	1	11480	937	33	2		2	PAX1	20	21695441	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1643866	21695441	41330079	2162	15434											
SSTR4	6754	genome.wustl.edu	37	chr20	23017086	23017086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaacttccgccgattcttCcagcgggttctctgcctgcg	10	15	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:23017086C>T	ENST00000255008.3	+	1	1030	c.966C>T	c.(964-966)ttC>ttT	p.F322F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	322					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)					GCCGATTCTTCCAGCGGGTTC	0.582																																					Esophageal Squamous(15;850 1104 16640)												0								ENSG00000132671						70	76	74					20																	23017086		2196	4300	6496	SSTR4	SO:0001819	synonymous_variant	0			-	HGNC		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.966C>T	20.37:g.23017086C>T		Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.F322	ENST00000255008.3	37	c.966	CCDS42856.1	20																																																																																			-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt		0.582	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	protein_coding	OTTHUMT00000078308.1	C		-		23017086	1	no_errors	ENST00000255008	ensembl	human	known	74_37	silent	SNP	1.000	T	T	23017086	C	T	23017086	2	4	196	1	0	0	0	0	0	0	0	1	15207	854	30	2		2	SSTR4	20	23017086	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1321645	23017086	40008434	2163	15435											
TMEM90B	79953	genome.wustl.edu	37	chr20	24524039	24524039	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgtgctgcgctcctgGggggacggtgtggccgccga	21	11	0	0	rs371527396		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:24524039G>A	ENST00000376862.3	+	2	939	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	102					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.W102*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCGCTCCTGGGGGGACGGTG	0.637																																																	1	Substitution - Nonsense(1)	skin(1)						ENSG00000101463						60	61	60					20																	24524039		2203	4300	6503	SYNDIG1	SO:0001587	stop_gained	0			-	HGNC	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.306G>A	20.37:g.24524039G>A	ENSP00000366058:p.Trp102*	Somatic	0	50	0		0.52429534266604	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	66	20.48	Q6IA30|Q9H514	Nonsense_Mutation	SNP							pfam_CD225/Dispanin_fam	p.W102*	ENST00000376862.3	37	c.306	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.228544	0.99106	.	.	ENSG00000101463	ENST00000376862	.	.	.	5.85	5.85	0.93711	.	0.130857	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-14.3677	17.645	0.88146	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000366058:W102X	W	+	3	0	SYNDIG1	24472039	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.200000	0.95010	2.766000	0.95052	0.655000	0.94253	TGG	-	NULL		0.637	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	protein_coding	OTTHUMT00000078376.1	G	NM_024893	-		24524039	1	no_errors	ENST00000376862	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	24524039	G	A	24524039	4	1	196	1	0	0	0	0	0	1	0	0	16226	1241	43	2	308	2	TMEM90B	20	24524039	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1506953	24524039	38501481	2164	15436											
PYGB	5834	genome.wustl.edu	37	chr20	25252028	25252028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttttcagcgtgtttccTtgactcaatggctaccttgg	9	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:25252028T>C	ENST00000216962.4	+	4	544	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	145					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCGTGTTTCCTTGACTCAATG	0.502																																																	0								ENSG00000100994						236	216	223					20																	25252028		2203	4300	6503	PYGB	SO:0001583	missense	0			-	HGNC		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.434T>C	20.37:g.25252028T>C	ENSP00000216962:p.Leu145Pro	Somatic	0	62	0		0.52429534266604	16	48.39	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	68	25.27	Q96AK1|Q9NPX8	Missense_Mutation	SNP							pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.L145P	ENST00000216962.4	37	c.434	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758607	0.69763	.	.	ENSG00000100994	ENST00000216962	D	0.95588	-3.75	4.08	4.08	0.47627	.	0.141502	0.47852	D	0.000219	D	0.98277	0.9429	H	0.98027	4.13	0.80722	D	1	P	0.39624	0.681	P	0.54590	0.756	D	0.99777	1.1026	10	0.87932	D	0	-18.1005	13.1861	0.59682	0.0:0.0:0.0:1.0	.	145	P11216	PYGB_HUMAN	P	145	ENSP00000216962:L145P	ENSP00000216962:L145P	L	+	2	0	PYGB	25200028	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.738000	0.84966	1.830000	0.53286	0.460000	0.39030	CTT	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.502	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	protein_coding	OTTHUMT00000078415.2	T	NM_002862	-		25252028	1	no_errors	ENST00000216962	ensembl	human	known	74_37	missense	SNP	1.000	C	C	25252028	T	C	25252028	3	2	196	1	0	0	0	0	1	0	0	0	12868	1609	56	5	448	5	PYGB	20	25252028	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	727989	25252028	37773492	2165	15437											
DEFB119	245932	genome.wustl.edu	37	chr20	29976941	29976941	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattgttaaataacgactagGaacacagcaccgtttacgat	8	8	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:29976941G>A	ENST00000376321.3	-	1	181				DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.P52S	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAACGACTAGGAACACAGCAC	0.453																																																	0								ENSG00000180483						198	170	180					20																	29976941		2203	4300	6503	DEFB119	SO:0001627	intron_variant	0			-	HGNC	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1284C>T	20.37:g.29976941G>A		Somatic	0	103	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	100	35.90	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP							superfamily_Scorpion_toxin-like	p.P52S	ENST00000376321.3	37	c.154	CCDS13178.1	20	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903764	0.92035	.	.	ENSG00000180483	ENST00000376315	T	0.30981	1.51	3.49	3.49	0.39957	.	1.726480	0.03263	N	0.183560	T	0.46814	0.1412	.	.	.	0.23975	N	0.996297	D	0.61080	0.989	P	0.55923	0.787	T	0.37407	-0.9707	9	0.59425	D	0.04	-0.4087	10.7899	0.46426	0.0:0.0:1.0:0.0	.	52	Q8N690-2	.	S	52	ENSP00000365492:P52S	ENSP00000365492:P52S	P	-	1	0	DEFB119	29440602	0.916000	0.31088	0.908000	0.35775	0.982000	0.71751	3.324000	0.52022	2.263000	0.75096	0.563000	0.77884	CCT	-	superfamily_Scorpion_toxin-like		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	protein_coding	OTTHUMT00000078514.1	G	NM_153289	-		29976941	-1	no_errors	ENST00000376315	ensembl	human	known	74_37	missense	SNP	0.906	A	A	29976941	G	A	29976941	1	1	196	0	1	0	0	0	0	0	0	0	4409	1174	41	2		2	DEFB119	20	29976941	Intron	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4724913	29976941	33048579	2166	15438											
FOXS1	2307	genome.wustl.edu	37	chr20	30432509	30432509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagtgagcctggaggggtGggtggtgcaggggagggggc	26	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:30432509G>A	ENST00000375978.3	-	1	911	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	279					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTGGAGGGGTGGGTGGTGCAG	0.662																																																	0								ENSG00000179772						18	21	20					20																	30432509		2202	4298	6500	FOXS1	SO:0001819	synonymous_variant	0			-	HGNC	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.837C>T	20.37:g.30432509G>A		Somatic	0	40	0		0.52429534266604	26	10.34	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	Q96D28	Silent	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P279	ENST00000375978.3	37	c.837	CCDS13192.1	20																																																																																			-	NULL		0.662	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	protein_coding	OTTHUMT00000078560.2	G	NM_004118	-		30432509	-1	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	SNP	0.620	A	A	30432509	G	A	30432509	2	1	196	1	0	0	0	0	0	0	0	1	6037	1335	47	2		2	FOXS1	20	30432509	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	455568	30432509	32593011	2167	15439											
FOXS1	2307	genome.wustl.edu	37	chr20	30433190	30433190	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggttgtggcggtagaaggcGaatcggcccatgatgtagcg	17	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:30433190G>A	ENST00000375978.3	-	1	230	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	52					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGTAGAAGGCGAATCGGCCCA	0.617																																																	0								ENSG00000179772						77	64	68					20																	30433190		2203	4300	6503	FOXS1	SO:0001819	synonymous_variant	0			-	HGNC	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.156C>T	20.37:g.30433190G>A		Somatic	0	97	0		0.52429534266604	13	18.75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	116	36.96	Q96D28	Silent	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F52	ENST00000375978.3	37	c.156	CCDS13192.1	20																																																																																			-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	protein_coding	OTTHUMT00000078560.2	G	NM_004118	-		30433190	-1	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	SNP	0.980	A	A	30433190	G	A	30433190	2	1	196	1	0	0	0	0	0	0	0	1	6037	1049	37	1		1	FOXS1	20	30433190	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	681	30433190	32592330	2168	15440											
DNMT3B	1789	genome.wustl.edu	37	chr20	31389085	31389085	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttttctgagcacagaGggtacaggccggctcttctt	10	11	5	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31389085G>A	ENST00000328111.2	+	19	2319	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	DNMT3B_ENST00000348286.2_Splice_Site_p.E646E|DNMT3B_ENST00000456297.2_Splice_Site_p.E570E|DNMT3B_ENST00000344505.4_Splice_Site_p.E646E|DNMT3B_ENST00000201963.3_Splice_Site_p.E658E|DNMT3B_ENST00000443239.3_Splice_Site_p.E604E|DNMT3B_ENST00000353855.2_Splice_Site_p.E646E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	666	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 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						TGAGCACAGAGGGTACAGGCC	0.527																																																	0								ENSG00000088305						58	55	56					20																	31389085		2203	4300	6503	DNMT3B	SO:0001630	splice_region_variant	0			-	HGNC		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.1997-1G>A	20.37:g.31389085G>A		Somatic	0	72	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	94	11.32	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP							pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.E666	ENST00000328111.2	37	c.1998	CCDS13205.1	20																																																																																			-	pfam_C5_MeTfrase		0.527	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	protein_coding	OTTHUMT00000078643.2	G	NM_006892	-	Silent	31389085	1	no_errors	ENST00000328111	ensembl	human	known	74_37	silent	SNP	1.000	A	A	31389085	G	A	31389085	5	1	196	1	0	0	0	0	0	0	1	0	4679	1014	35	2	2108	2	DNMT3B	20	31389085	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	955895	31389085	31636435	2169	15441											
BPIL1	80341	genome.wustl.edu	37	chr20	31604871	31604871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgagcatctccaacctGgtgcagggtgtcaatgtcca	11	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31604871G>A	ENST00000170150.3	+	7	735	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	180						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCTCCAACCTGGTGCAGGGTG	0.627																																																	0								ENSG00000078898						112	113	113					20																	31604871		2203	4300	6503	BPIFB2	SO:0001819	synonymous_variant	0			-	HGNC	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.540G>A	20.37:g.31604871G>A		Somatic	0	29	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP							pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.L180	ENST00000170150.3	37	c.540	CCDS13210.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.627	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	protein_coding	OTTHUMT00000078652.2	G	NM_025227	-		31604871	1	no_errors	ENST00000170150	ensembl	human	known	74_37	silent	SNP	1.000	A	A	31604871	G	A	31604871	2	1	196	1	0	0	0	0	0	0	0	1	1493	1335	47	2		2	BPIL1	20	31604871	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	215786	31604871	31420649	2170	15442											
BPIL3	128859	genome.wustl.edu	37	chr20	31627169	31627169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtggctgtagcttatcCcaagtcaaagcccttgacga	11	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31627169C>T	ENST00000349552.1	+	10	917	c.917C>T	c.(916-918)cCc>cTc	p.P306L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	306						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GTAGCTTATCCCAAGTCAAAG	0.517																																																	0								ENSG00000167104						95	99	98					20																	31627169		2203	4300	6503	BPIFB6	SO:0001583	missense	0			-	HGNC	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.917C>T	20.37:g.31627169C>T	ENSP00000344929:p.Pro306Leu	Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	68	31.31		Missense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.P306L	ENST00000349552.1	37	c.917	CCDS13211.1	20	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671926	0.29693	.	.	ENSG00000167104	ENST00000349552	T	0.27890	1.64	4.44	-0.18	0.13295	.	0.340355	0.25247	N	0.032047	T	0.47303	0.1438	M	0.77103	2.36	0.38133	D	0.938212	D	0.63880	0.993	D	0.68039	0.955	T	0.51293	-0.8724	10	0.62326	D	0.03	.	6.8134	0.23817	0.5215:0.3191:0.1594:0.0	.	306	Q8NFQ5	BPIB6_HUMAN	L	306	ENSP00000344929:P306L	ENSP00000344929:P306L	P	+	2	0	BPIFB6	31090830	0.246000	0.23909	0.956000	0.39512	0.028000	0.11728	0.063000	0.14410	0.423000	0.26033	0.561000	0.74099	CCC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.517	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	protein_coding	OTTHUMT00000078658.2	C	NM_174897	-		31627169	1	no_errors	ENST00000349552	ensembl	human	known	74_37	missense	SNP	0.780	T	T	31627169	C	T	31627169	3	4	196	1	0	0	0	0	1	0	0	0	1495	623	22	2	955	2	BPIL3	20	31627169	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	22298	31627169	31398351	2171	15443											
C20orf114	92747	genome.wustl.edu	37	chr20	31877727	31877727	+	Silent	SNP	G	G	A													gctaacatcctccagctgcaGgtgaagccctcggccaatga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31877727G>A	ENST00000253354.1	+	4	455	c.294G>A	c.(292-294)caG>caA	p.Q98Q		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	98					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCCAGCTGCAGGTGAAGCCCT	0.537																																																	0								ENSG00000125999						140	116	124					20																	31877727		2203	4300	6503	BPIFB1	SO:0001819	synonymous_variant	0			-	HGNC	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.294G>A	20.37:g.31877727G>A		Somatic	0	39	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.Q98	ENST00000253354.1	37	c.294	CCDS13218.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form		0.537	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	protein_coding	OTTHUMT00000106499.2	G	NM_033197	-		31877727	1	no_errors	ENST00000253354	ensembl	human	known	74_37	silent	SNP	0.000	A	A	31877727	G	A	31877727	2	1	196	1	0	0	0	0	0	0	0	1	2084	991	35	2		2	C20orf114	20	31877727	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	250558	31877727	31147793	2172	15444	372	2									
C20orf114	92747	genome.wustl.edu	37	chr20	31877728	31877728	+	Missense_Mutation	SNP	G	G	A													ctaacatcctccagctgcagGtgaagccctcggccaatgac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31877728G>A	ENST00000253354.1	+	4	456	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	99					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCAGCTGCAGGTGAAGCCCTC	0.542																																																	0								ENSG00000125999						139	115	123					20																	31877728		2203	4300	6503	BPIFB1	SO:0001583	missense	0			-	HGNC	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.295G>A	20.37:g.31877728G>A	ENSP00000253354:p.Val99Met	Somatic	0	38	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	46	41.77	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.V99M	ENST00000253354.1	37	c.295	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037125	0.54896	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.06687	3.27;3.27	5.24	-0.958	0.10347	.	0.845837	0.10262	N	0.695797	T	0.17023	0.0409	M	0.68317	2.08	0.09310	N	1	D;D	0.58970	0.984;0.984	P;P	0.59889	0.865;0.865	T	0.14924	-1.0455	10	0.59425	D	0.04	-8.248	3.5077	0.07696	0.3763:0.0:0.4181:0.2056	.	99;99	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	M	99	ENSP00000390471:V99M;ENSP00000253354:V99M	ENSP00000253354:V99M	V	+	1	0	BPIFB1	31341389	0.034000	0.19679	0.008000	0.14137	0.205000	0.24178	0.501000	0.22578	0.072000	0.16694	0.655000	0.94253	GTG	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form		0.542	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	protein_coding	OTTHUMT00000106499.2	G	NM_033197	-		31877728	1	no_errors	ENST00000253354	ensembl	human	known	74_37	missense	SNP	0.001	A	A	31877728	G	A	31877728	3	1	196	1	0	0	0	0	1	0	0	0	2084	1261	44	2	305	2	C20orf114	20	31877728	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	31877728	31147792	2173	15445	372	2									
FAM83C	128876	genome.wustl.edu	37	chr20	33875114	33875114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttctcctccactgtctCcagggttgtgccaggtaccc	8	17	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:33875114C>T	ENST00000374408.3	-	4	1564	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	490										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCCACTGTCTCCAGGGTTGTG	0.642																																																	0								ENSG00000125998						45	43	44					20																	33875114		2161	4254	6415	FAM83C	SO:0001583	missense	0			-	HGNC	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1468G>A	20.37:g.33875114C>T	ENSP00000363529:p.Glu490Lys	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	53	25.00	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP							pfam_DUF1669	p.E490K	ENST00000374408.3	37	c.1468	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989574	0.35131	.	.	ENSG00000125998	ENST00000374408	T	0.09163	3.01	4.29	2.28	0.28536	.	0.943037	0.08906	N	0.876635	T	0.13798	0.0334	M	0.72353	2.195	0.29895	N	0.824844	B	0.12013	0.005	B	0.09377	0.004	T	0.16512	-1.0400	10	0.39692	T	0.17	0.9428	7.0021	0.24815	0.0:0.7277:0.1749:0.0973	.	490	Q9BQN1	FA83C_HUMAN	K	490	ENSP00000363529:E490K	ENSP00000363529:E490K	E	-	1	0	FAM83C	33338528	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	2.354000	0.44098	0.540000	0.28808	-0.258000	0.10820	GAG	-	NULL		0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	protein_coding	OTTHUMT00000078854.3	C		-		33875114	-1	no_errors	ENST00000374408	ensembl	human	known	74_37	missense	SNP	0.998	T	T	33875114	C	T	33875114	3	4	196	1	0	0	0	0	1	0	0	0	5637	864	30	2	779	2	FAM83C	20	33875114	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1997386	33875114	29150406	2174	15446											
GDF5	8200	genome.wustl.edu	37	chr20	34025453	34025453	+	Silent	SNP	G	G	A													atccttcttgggctgtgtcaGgcctcctgtctgcccggtgc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34025453G>A	ENST00000374372.1	-	3	759	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	GDF5_ENST00000374369.3_Silent_p.L86L			P43026	GDF5_HUMAN	growth differentiation factor 5	86					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)			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)			GGCTGTGTCAGGCCTCCTGTC	0.652																																																	0								ENSG00000125965						44	44	44					20																	34025453		2203	4300	6503	GDF5	SO:0001819	synonymous_variant	0			-	HGNC	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.256C>T	20.37:g.34025453G>A		Somatic	0	16	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	E1P5Q2|Q96SB1	Silent	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.L86	ENST00000374372.1	37	c.256	CCDS13254.1	20																																																																																			-	NULL		0.652	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	protein_coding	OTTHUMT00000078875.2	G		-		34025453	-1	no_errors	ENST00000374369	ensembl	human	known	74_37	silent	SNP	1.000	A	A	34025453	G	A	34025453	2	1	196	1	0	0	0	0	0	0	0	1	6318	991	35	2		2	GDF5	20	34025453	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	150339	34025453	29000067	2175	15447	373	2									
GDF5	8200	genome.wustl.edu	37	chr20	34025454	34025454	+	Silent	SNP	G	G	A													tccttcttgggctgtgtcagGcctcctgtctgcccggtgcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34025454G>A	ENST00000374372.1	-	3	758	c.255C>T	c.(253-255)ggC>ggT	p.G85G	GDF5_ENST00000374369.3_Silent_p.G85G			P43026	GDF5_HUMAN	growth differentiation factor 5	85					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)			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)			GCTGTGTCAGGCCTCCTGTCT	0.652																																																	0								ENSG00000125965						44	44	44					20																	34025454		2203	4300	6503	GDF5	SO:0001819	synonymous_variant	0			-	HGNC	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.255C>T	20.37:g.34025454G>A		Somatic	0	16	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	39	29.09	E1P5Q2|Q96SB1	Silent	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.G85	ENST00000374372.1	37	c.255	CCDS13254.1	20																																																																																			-	NULL		0.652	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	protein_coding	OTTHUMT00000078875.2	G		-		34025454	-1	no_errors	ENST00000374369	ensembl	human	known	74_37	silent	SNP	0.999	A	A	34025454	G	A	34025454	2	1	196	1	0	0	0	0	0	0	0	1	6318	1190	42	2		2	GDF5	20	34025454	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	34025454	29000066	2176	15448	373	2									
CEP250	11190	genome.wustl.edu	37	chr20	34078523	34078523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctggagagcttagaaaggGaaaaaatggagctggaaatg	14	4	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34078523G>A	ENST00000397527.1	+	21	3367	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	883	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGA	0.547																																																	0								ENSG00000126001						78	80	79					20																	34078523		2203	4300	6503	CEP250	SO:0001583	missense	0			-	HGNC	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2647G>A	20.37:g.34078523G>A	ENSP00000380661:p.Glu883Lys	Somatic	0	46	0		0.52429534266604	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP							superfamily_Prefoldin	p.E883K	ENST00000397527.1	37	c.2647	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081941	0.76528	.	.	ENSG00000126001	ENST00000397527	T	0.15487	2.42	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000020	T	0.42653	0.1212	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.36939	-0.9727	10	0.59425	D	0.04	.	12.8225	0.57700	0.0:0.0:1.0:0.0	.	883	Q9BV73	CP250_HUMAN	K	883	ENSP00000380661:E883K	ENSP00000380661:E883K	E	+	1	0	CEP250	33541937	1.000000	0.71417	0.914000	0.36105	0.542000	0.35054	4.401000	0.59716	2.503000	0.84419	0.555000	0.69702	GAA	-	NULL		0.547	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	G	NM_007186	-		34078523	1	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	SNP	0.960	A	A	34078523	G	A	34078523	3	1	196	1	0	0	0	0	1	0	0	0	3254	1175	41	2	2717	2	CEP250	20	34078523	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	53069	34078523	28946997	2177	15449											
C20orf152	140894	genome.wustl.edu	37	chr20	34596372	34596372	+	Missense_Mutation	SNP	C	C	T													aacctcaggagacactctccCcaagatgctgggcccgaaga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34596372C>T	ENST00000373973.3	+	9	1297	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	CNBD2_ENST00000538900.1_Missense_Mutation_p.P375L|CNBD2_ENST00000349339.1_Missense_Mutation_p.P375L			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	375			P -> S (in dbSNP:rs6060750). {ECO:0000269|PubMed:14702039}.														GACACTCTCCCCAAGATGCTG	0.502																																																	0								ENSG00000149646						52	52	52					20																	34596372		2203	4300	6503	CNBD2	SO:0001583	missense	0			-	HGNC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1124C>T	20.37:g.34596372C>T	ENSP00000363084:p.Pro375Leu	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	48	25.00	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P375L	ENST00000373973.3	37	c.1124		20	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947722	0.53186	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.12672	2.67;2.67;2.66	4.5	4.5	0.54988	Cyclic nucleotide-binding-like (1);	0.185586	0.36591	N	0.002515	T	0.21427	0.0516	M	0.67953	2.075	0.48341	D	0.999638	P;P	0.47962	0.844;0.903	B;P	0.46275	0.23;0.51	T	0.00536	-1.1683	10	0.62326	D	0.03	-12.0748	13.0094	0.58724	0.0:1.0:0.0:0.0	.	375;375	Q96M20;Q96M20-2	CT152_HUMAN;.	L	375	ENSP00000363084:P375L;ENSP00000340954:P375L;ENSP00000442729:P375L	ENSP00000340954:P375L	P	+	2	0	C20orf152	34059786	0.811000	0.29063	0.971000	0.41717	0.011000	0.07611	2.944000	0.49034	2.797000	0.96272	0.561000	0.74099	CCC	-	superfamily_cNMP-bd-like		0.502	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	protein_coding	OTTHUMT00000078960.2	C	NM_080834	-		34596372	1	no_errors	ENST00000373973	ensembl	human	known	74_37	missense	SNP	0.969	T	T	34596372	C	T	34596372	3	4	196	1	0	0	0	0	1	0	0	0	2094	623	22	2	1158	2	C20orf152	20	34596372	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	517849	34596372	28429148	2178	15450	374	2									
C20orf152	140894	genome.wustl.edu	37	chr20	34596373	34596373	+	Silent	SNP	C	C	T													acctcaggagacactctcccCaagatgctgggcccgaagat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34596373C>T	ENST00000373973.3	+	9	1298	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	CNBD2_ENST00000538900.1_Silent_p.P375P|CNBD2_ENST00000349339.1_Silent_p.P375P			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	375			P -> S (in dbSNP:rs6060750). {ECO:0000269|PubMed:14702039}.														ACACTCTCCCCAAGATGCTGG	0.502																																																	0								ENSG00000149646						52	52	52					20																	34596373		2203	4300	6503	CNBD2	SO:0001819	synonymous_variant	0			-	HGNC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1125C>T	20.37:g.34596373C>T		Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.53	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P375	ENST00000373973.3	37	c.1125		20																																																																																			-	superfamily_cNMP-bd-like		0.502	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	protein_coding	OTTHUMT00000078960.2	C	NM_080834	-		34596373	1	no_errors	ENST00000373973	ensembl	human	known	74_37	silent	SNP	0.926	T	T	34596373	C	T	34596373	2	4	196	1	0	0	0	0	0	0	0	1	2094	581	21	2		2	C20orf152	20	34596373	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	34596373	28429147	2179	15451	374	2									
C20orf24	55969	genome.wustl.edu	37	chr20	35234409	35234409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcagctggccaacgggGccctcaaagtctccgtctgg	13	15	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:35234409G>A	ENST00000373852.5	+	1	190	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	C20orf24_ENST00000344795.3_Missense_Mutation_p.A19T|TGIF2-C20orf24_ENST00000558530.1_Intron|RP5-977B1.11_ENST00000561134.1_RNA|C20orf24_ENST00000342422.3_Missense_Mutation_p.A19T			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	19				LANGALKVSVWSKVLRSDA -> PWANGASKSPSGVRCCGR R (in Ref. 6; AAB50849). {ECO:0000305}.						breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCCAACGGGGCCCTCAAAGT	0.736																																																	0								ENSG00000101084						15	15	15					20																	35234409		1925	3716	5641	C20orf24	SO:0001583	missense	0			-	HGNC	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.55G>A	20.37:g.35234409G>A	ENSP00000362958:p.Ala19Thr	Somatic	0	58	0		0.52429534266604	103	28.97	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	66	40.54	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP							NULL	p.A19T	ENST00000373852.5	37	c.55	CCDS56190.1	20	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753015	0.49362	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.37	5.37	0.77165	.	0.058865	0.64402	D	0.000004	T	0.52273	0.1724	.	.	.	0.22771	N	0.998752	B;D;B;B	0.69078	0.011;0.997;0.004;0.024	B;P;B;B	0.60789	0.003;0.879;0.005;0.006	T	0.46512	-0.9186	8	0.36615	T	0.2	-18.48	10.4308	0.44407	0.089:0.0:0.911:0.0	.	19;19;19;19	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3	CT024_HUMAN;.;.;.	T	19	.	ENSP00000341213:A19T	A	+	1	0	C20orf24	34667823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.335000	0.79234	2.677000	0.91161	0.561000	0.74099	GCC	-	NULL		0.736	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	protein_coding	OTTHUMT00000079006.1	G	NM_018840	-		35234409	1	no_errors	ENST00000373852	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35234409	G	A	35234409	3	1	196	1	0	0	0	0	1	0	0	0	2107	1203	42	2	57	2	C20orf24	20	35234409	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	638036	35234409	27791111	2180	15452											
C20orf117	140710	genome.wustl.edu	37	chr20	35443578	35443578	+	Missense_Mutation	SNP	C	C	T													gaagaatctccttagagagcCcctgggagcccaaggggggc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:35443578C>T	ENST00000357779.3	-	5	1879	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	SOGA1_ENST00000456801.2_Missense_Mutation_p.G359E|SOGA1_ENST00000279034.6_Missense_Mutation_p.G518E|SOGA1_ENST00000237536.4_Missense_Mutation_p.G756E			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	518					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTTAGAGAGCCCCTGGGAGCC	0.507																																																	0								ENSG00000149639						98	106	103					20																	35443578		1980	4165	6145	SOGA1	SO:0001583	missense	0			-	HGNC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1553G>A	20.37:g.35443578C>T	ENSP00000350424:p.Gly518Glu	Somatic	0	48	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	52	35.00	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP							pfam_SOGA	p.G756E	ENST00000357779.3	37	c.2267		20	.	.	.	.	.	.	.	.	.	.	C	8.946	0.966938	0.18659	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16073	2.37;2.37;2.38;2.38	5.2	4.19	0.49359	.	0.501524	0.21634	N	0.071421	T	0.15132	0.0365	N	0.22421	0.69	0.33378	D	0.574526	D	0.62365	0.991	P	0.59424	0.857	T	0.16897	-1.0387	10	0.02654	T	1	-57.5324	5.1952	0.15233	0.0:0.7527:0.0:0.2473	.	518	O94964-4	.	E	756;518;359;518	ENSP00000237536:G756E;ENSP00000279034:G518E;ENSP00000413886:G359E;ENSP00000350424:G518E	ENSP00000237536:G756E	G	-	2	0	KIAA0889	34876992	0.996000	0.38824	0.985000	0.45067	0.518000	0.34316	2.067000	0.41461	2.706000	0.92434	0.561000	0.74099	GGG	-	NULL		0.507	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	protein_coding		C	NM_199181	-		35443578	-1	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	SNP	0.983	T	T	35443578	C	T	35443578	3	4	196	1	0	0	0	0	1	0	0	0	2085	623	22	2	2824	2	C20orf117	20	35443578	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	209169	35443578	27581942	2181	15453	375	2									
C20orf117	140710	genome.wustl.edu	37	chr20	35443579	35443579	+	Missense_Mutation	SNP	C	C	T													aagaatctccttagagagccCctgggagcccaaggggggca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:35443579C>T	ENST00000357779.3	-	5	1878	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	SOGA1_ENST00000456801.2_Missense_Mutation_p.G359R|SOGA1_ENST00000279034.6_Missense_Mutation_p.G518R|SOGA1_ENST00000237536.4_Missense_Mutation_p.G756R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	518					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTAGAGAGCCCCTGGGAGCCC	0.507																																																	0								ENSG00000149639						98	105	103					20																	35443579		1977	4168	6145	SOGA1	SO:0001583	missense	0			-	HGNC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1552G>A	20.37:g.35443579C>T	ENSP00000350424:p.Gly518Arg	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP							pfam_SOGA	p.G756R	ENST00000357779.3	37	c.2266		20	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500330	0.44455	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16743	2.32;2.32;2.33;2.33	5.2	5.2	0.72013	.	0.501524	0.21634	N	0.071421	T	0.26048	0.0635	N	0.22421	0.69	0.36814	D	0.886047	D	0.76494	0.999	D	0.67725	0.953	T	0.06844	-1.0804	10	0.14656	T	0.56	-57.5324	17.6614	0.88193	0.0:1.0:0.0:0.0	.	518	O94964-4	.	R	756;518;359;518	ENSP00000237536:G756R;ENSP00000279034:G518R;ENSP00000413886:G359R;ENSP00000350424:G518R	ENSP00000237536:G756R	G	-	1	0	KIAA0889	34876993	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	3.173000	0.50839	2.706000	0.92434	0.561000	0.74099	GGG	-	NULL		0.507	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	protein_coding		C	NM_199181	-		35443579	-1	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35443579	C	T	35443579	3	4	196	1	0	0	0	0	1	0	0	0	2085	623	22	2	2825	2	C20orf117	20	35443579	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	35443579	27581941	2182	15454	375	2									
KIAA0406	9675	genome.wustl.edu	37	chr20	36641177	36641177	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttattgcactgggcttGgatttcaggactctcatcat	8	9	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36641177G>A	ENST00000373448.2	-	3	1280	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Nonsense_Mutation_p.Q348*|TTI1_ENST00000373447.3_Nonsense_Mutation_p.Q348*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	348					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CACTGGGCTTGGATTTCAGGA	0.468																																																	0								ENSG00000101407						132	134	134					20																	36641177		2203	4300	6503	TTI1	SO:0001587	stop_gained	0			-	HGNC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1042C>T	20.37:g.36641177G>A	ENSP00000362547:p.Gln348*	Somatic	0	28	0		0.52429534266604	9	30.77	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	29.09	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP							superfamily_ARM-type_fold,pirsf_UCP005250	p.Q348*	ENST00000373448.2	37	c.1042	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.319515	0.95682	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.64	5.64	0.86602	.	0.170867	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-13.9071	18.8715	0.92317	0.0:0.0:1.0:0.0	.	.	.	.	X	348	.	ENSP00000362546:Q348X	Q	-	1	0	TTI1	36074591	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.403000	0.66338	2.937000	0.99478	0.650000	0.86243	CAA	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	G	NM_014657	-		36641177	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	36641177	G	A	36641177	4	1	196	1	0	0	0	0	0	1	0	0	8175	1357	47	2	2255	2	KIAA0406	20	36641177	Nonsense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1197598	36641177	26384343	2183	15455											
TGM2	7052	genome.wustl.edu	37	chr20	36760823	36760823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataactggctccacgaggagGgcccgcaccttgatgaggtt	13	11	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36760823G>A	ENST00000361475.2	-	11	1868	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	TGM2_ENST00000536701.1_Silent_p.A484A|TGM2_ENST00000536724.1_Silent_p.A505A	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	565					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCACGAGGAGGGCCCGCACCT	0.547																																																	0								ENSG00000198959						173	173	173					20																	36760823		2203	4300	6503	TGM2	SO:0001819	synonymous_variant	0			-	HGNC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1695C>T	20.37:g.36760823G>A		Somatic	0	64	0		0.52429534266604	35	5.26	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	44	42.31	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A565	ENST00000361475.2	37	c.1695	CCDS13302.1	20																																																																																			-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.547	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	protein_coding	OTTHUMT00000079151.2	G	NM_198951	-		36760823	-1	no_errors	ENST00000361475	ensembl	human	known	74_37	silent	SNP	0.998	A	A	36760823	G	A	36760823	2	1	196	1	0	0	0	0	0	0	0	1	15837	1219	43	2		2	TGM2	20	36760823	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	119646	36760823	26264697	2184	15456											
KIAA1755	85449	genome.wustl.edu	37	chr20	36846744	36846744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgcaggcaccgccttcCttcctgctccatccagtcgc	8	17	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36846744C>T	ENST00000279024.4	-	12	2852	c.2581G>A	c.(2581-2583)Gga>Aga	p.G861R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	861										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACCGCCTTCCTTCCTGCTCC	0.577																																																	0								ENSG00000149633						66	59	61					20																	36846744		2203	4300	6503	KIAA1755	SO:0001583	missense	0			-	HGNC	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2581G>A	20.37:g.36846744C>T	ENSP00000279024:p.Gly861Arg	Somatic	0	55	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	49	28.99	Q9C0A8	Missense_Mutation	SNP							superfamily_CRAL-TRIO_dom	p.G861R	ENST00000279024.4	37	c.2581	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952087	0.73787	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.33438	2.65;1.41	4.91	4.91	0.64330	.	0.150805	0.30879	N	0.008695	T	0.57725	0.2073	M	0.79805	2.47	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60352	-0.7280	10	0.49607	T	0.09	.	15.6338	0.76933	0.0:1.0:0.0:0.0	.	861;369	Q5JYT7;E9PFS1	K1755_HUMAN;.	R	861;369;160	ENSP00000279024:G861R;ENSP00000393503:G160R	ENSP00000279024:G861R	G	-	1	0	KIAA1755	36280158	0.997000	0.39634	0.994000	0.49952	0.752000	0.42762	4.057000	0.57455	2.538000	0.85594	0.561000	0.74099	GGA	-	NULL		0.577	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	protein_coding	OTTHUMT00000079144.3	C	NM_001029864	-		36846744	-1	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	SNP	0.994	T	T	36846744	C	T	36846744	3	4	196	1	0	0	0	0	1	0	0	0	8259	690	24	2	1033	2	KIAA1755	20	36846744	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	85921	36846744	26178776	2185	15457											
RALGAPB	57148	genome.wustl.edu	37	chr20	37202836	37202836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtcatcttcatccacCctttaaacactggattattc	3	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:37202836C>T	ENST00000262879.6	+	29	4470	c.4186C>T	c.(4186-4188)Cct>Tct	p.P1396S	RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1396S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P1175S|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1393S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1396					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTTCATCCACCCTTTAAACAC	0.413																																																	0								ENSG00000170471						76	87	83					20																	37202836		2203	4300	6503	RALGAPB	SO:0001583	missense	0			-	HGNC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4186C>T	20.37:g.37202836C>T	ENSP00000262879:p.Pro1396Ser	Somatic	0	45	0		0.52429534266604	24	35.14	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	40.00	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP							superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P1396S	ENST00000262879.6	37	c.4186	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619533	0.66787	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	6.02	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	L	0.36672	1.1	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.17722	0.019;0.019	D	0.87336	0.2328	10	0.39692	T	0.17	.	15.1629	0.72798	0.0:0.9326:0.0:0.0674	.	1393;1396	A2A2E9;Q86X10	.;RLGPB_HUMAN	S	1396;1393;1175;1396;1225	ENSP00000262879:P1396S;ENSP00000380235:P1393S;ENSP00000380231:P1175S;ENSP00000380233:P1396S;ENSP00000416646:P1225S	ENSP00000262879:P1396S	P	+	1	0	RALGAPB	36636250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.551000	0.49450	0.655000	0.94253	CCT	-	NULL		0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	protein_coding	OTTHUMT00000079191.1	C	NM_020336	-		37202836	1	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37202836	C	T	37202836	3	4	196	1	0	0	0	0	1	0	0	0	13023	623	22	2	4296	2	RALGAPB	20	37202836	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	356092	37202836	25822684	2186	15458											
ACTR5	79913	genome.wustl.edu	37	chr20	37400341	37400341	+	Frame_Shift_Del	DEL	G	G	-													agagtacctcaaggagcactGtgcttccaacatctatgtcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:37400341delG	ENST00000243903.4	+	9	1743	c.1706delG	c.(1705-1707)tgtfs	p.C569fs		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	569					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AAGGAGCACTGTGCTTCCAAC	0.562																																																	0								ENSG00000101442						85	69	75					20																	37400341		2203	4300	6503	ACTR5	SO:0001589	frameshift_variant	0				HGNC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1706delG	20.37:g.37400341delG	ENSP00000243903:p.Cys569fs	Somatic	0	22	0		0.52429534266604	57	22.97	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	36	29.41	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Frame_Shift_Del	DEL							pfam_Actin-related,smart_Actin-related	p.C569fs	ENST00000243903.4	37	c.1706	CCDS13308.1	20																																																																																			-	pfam_Actin-related,smart_Actin-related		0.562	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	protein_coding	OTTHUMT00000079205.2	G	NM_024855			37400341	1	no_errors	ENST00000243903	ensembl	human	known	74_37	frame_shift_del	DEL	0.060	-	-	37400341	G	-	37400341	7	5	196	1	0	1	0	1	0	0	0	0	215	1377	48	0	1740	0	ACTR5	20	37400341	Frame_Shift_Del	DEL	G	TCGA-QC-A7B5-01A-11D-A33E-09	197505	37400341	25625179	2187	15459	376	2									
ACTR5	79913	genome.wustl.edu	37	chr20	37400343	37400343	+	Missense_Mutation	SNP	G	G	A													agtacctcaaggagcactgtGcttccaacatctatgtcccc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:37400343G>A	ENST00000243903.4	+	9	1745	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	570					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGAGCACTGTGCTTCCAACAT	0.562																																																	0								ENSG00000101442						81	66	72					20																	37400343		2203	4300	6503	ACTR5	SO:0001583	missense	0			-	HGNC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1708G>A	20.37:g.37400343G>A	ENSP00000243903:p.Ala570Thr	Somatic	0	21	0		0.52429534266604	56	31.33	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related	p.A570T	ENST00000243903.4	37	c.1708	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.135221	0.94517	.	.	ENSG00000101442	ENST00000243903	T	0.08102	3.13	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00036	-1.2253	10	0.33141	T	0.24	-17.857	20.6086	0.99469	0.0:0.0:1.0:0.0	.	570	Q9H9F9	ARP5_HUMAN	T	570	ENSP00000243903:A570T	ENSP00000243903:A570T	A	+	1	0	ACTR5	36833757	1.000000	0.71417	0.428000	0.26697	0.928000	0.56348	6.988000	0.76212	2.880000	0.98712	0.655000	0.94253	GCT	-	smart_Actin-related		0.562	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	protein_coding	OTTHUMT00000079205.2	G	NM_024855	-		37400343	1	no_errors	ENST00000243903	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37400343	G	A	37400343	3	1	196	1	0	0	0	0	1	0	0	0	215	1319	46	2	1742	2	ACTR5	20	37400343	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2	37400343	25625177	2188	15460	376	2									
CHD6	84181	genome.wustl.edu	37	chr20	40050119	40050119	+	Missense_Mutation	SNP	G	G	A													tacttgggctctcctgaaaaGagcttggttcttggctgagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40050119G>A	ENST00000373233.3	-	31	5333	c.5156C>T	c.(5155-5157)tCt>tTt	p.S1719F		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1719					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCTGAAAAGAGCTTGGTTC	0.453																																																	0								ENSG00000124177						95	89	91					20																	40050119		2203	4300	6503	CHD6	SO:0001583	missense	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5156C>T	20.37:g.40050119G>A	ENSP00000362330:p.Ser1719Phe	Somatic	0	43	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	43	42.11	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1719F	ENST00000373233.3	37	c.5156	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665887	0.47677	.	.	ENSG00000124177	ENST00000373233	D	0.86627	-2.15	6.03	6.03	0.97812	.	0.102095	0.44483	D	0.000448	D	0.85353	0.5677	L	0.27053	0.805	0.80722	D	1	P	0.48503	0.911	P	0.46585	0.521	D	0.86538	0.1826	10	0.72032	D	0.01	-1.7421	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1719	Q8TD26	CHD6_HUMAN	F	1719	ENSP00000362330:S1719F	ENSP00000362330:S1719F	S	-	2	0	CHD6	39483533	1.000000	0.71417	0.993000	0.49108	0.096000	0.18686	4.669000	0.61575	2.861000	0.98227	0.655000	0.94253	TCT	-	NULL		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	G		-		40050119	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40050119	G	A	40050119	3	1	196	1	0	0	0	0	1	0	0	0	3331	942	33	2	3019	2	CHD6	20	40050119	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2649776	40050119	22975401	2189	15461	377	2									
CHD6	84181	genome.wustl.edu	37	chr20	40050121	40050121	+	Silent	SNP	G	G	A													cttgggctctcctgaaaagaGcttggttcttggctgagcac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40050121G>A	ENST00000373233.3	-	31	5331	c.5154C>T	c.(5152-5154)agC>agT	p.S1718S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1718					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTGAAAAGAGCTTGGTTCTT	0.448																																																	0								ENSG00000124177						95	89	91					20																	40050121		2203	4300	6503	CHD6	SO:0001819	synonymous_variant	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5154C>T	20.37:g.40050121G>A		Somatic	0	43	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	44	41.33	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1718	ENST00000373233.3	37	c.5154	CCDS13317.1	20																																																																																			-	NULL		0.448	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	G		-		40050121	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	SNP	0.879	A	A	40050121	G	A	40050121	2	1	196	1	0	0	0	0	0	0	0	1	3331	962	34	2		2	CHD6	20	40050121	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2	40050121	22975399	2190	15462	377	2									
CHD6	84181	genome.wustl.edu	37	chr20	40052235	40052235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttcttgtccaaacgggaAatgatgcggaactgtgtcca	11	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40052235A>C	ENST00000373233.3	-	30	4629	c.4452T>G	c.(4450-4452)atT>atG	p.I1484M		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1484	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAACGGGAAATGATGCGGA	0.438																																																	0								ENSG00000124177						168	177	174					20																	40052235		2203	4300	6503	CHD6	SO:0001583	missense	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4452T>G	20.37:g.40052235A>C	ENSP00000362330:p.Ile1484Met	Somatic	0	43	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	37	39.34	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.I1484M	ENST00000373233.3	37	c.4452	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003639	0.19121	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.07	3.47	0.39725	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000006	T	0.73094	0.3543	L	0.31420	0.93	0.80722	D	1	B	0.25390	0.125	B	0.31495	0.131	T	0.60485	-0.7254	10	0.13108	T	0.6	-14.1285	5.0303	0.14405	0.6038:0.0:0.1018:0.2944	.	1484	Q8TD26	CHD6_HUMAN	M	1484	ENSP00000362330:I1484M	ENSP00000362330:I1484M	I	-	3	3	CHD6	39485649	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.767000	0.26575	1.079000	0.41038	-0.438000	0.05819	ATT	-	NULL		0.438	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	A		-		40052235	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	SNP	0.999	C	C	40052235	A	C	40052235	3	2	196	1	0	0	0	0	1	0	0	0	3331	10	1	5	3727	5	CHD6	20	40052235	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2114	40052235	22973285	2191	15463											
PABPC1L	80336	genome.wustl.edu	37	chr20	43561059	43561059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggtggacatcccagcCacctagaccttcctgtgagt	9	16	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:43561059C>T	ENST00000217073.2	+	9	1316	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000255136.3_Missense_Mutation_p.P439L|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000372824.1_5'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	439	Pro-rich.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ACATCCCAGCCACCTAGACCT	0.607																																																	0								ENSG00000101104						53	58	57					20																	43561059		1568	3582	5150	PABPC1L	SO:0001583	missense	0			-	HGNC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1316C>T	20.37:g.43561059C>T	ENSP00000217073:p.Pro439Leu	Somatic	0	51	0		0.52429534266604	47	24.19	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	79	12.22	Q4VY17	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.P439L	ENST00000217073.2	37	c.1316	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849506	0.17034	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.17213	2.29;2.29	5.91	4.97	0.65823	.	0.316835	0.39274	N	0.001411	T	0.11410	0.0278	L	0.27053	0.805	0.58432	D	0.999997	B	0.25441	0.126	B	0.19946	0.027	T	0.15037	-1.0451	10	0.27082	T	0.32	.	9.5185	0.39120	0.1405:0.7877:0.0:0.0718	.	439	Q4VXU2	PAP1L_HUMAN	L	439	ENSP00000255136:P439L;ENSP00000217073:P439L	ENSP00000217073:P439L	P	+	2	0	PABPC1L	42994473	0.701000	0.27806	0.904000	0.35570	0.969000	0.65631	1.172000	0.31908	1.504000	0.48704	0.655000	0.94253	CCA	-	tigrfam_PABP_1234		0.607	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	protein_coding	OTTHUMT00000127816.2	C		-		43561059	1	no_errors	ENST00000217073	ensembl	human	known	74_37	missense	SNP	0.761	T	T	43561059	C	T	43561059	3	4	196	1	0	0	0	0	1	0	0	0	11366	594	21	2	1350	2	PABPC1L	20	43561059	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3508824	43561059	19464461	2192	15464											
SLC12A5	57468	genome.wustl.edu	37	chr20	44671893	44671893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctatcgacatggaccacCcttatgtcttcagtgatatg	7	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:44671893C>T	ENST00000454036.2	+	9	1286	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P390S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	413					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATGGACCACCCTTATGTCTT	0.567																																																	0								ENSG00000124140						304	256	273					20																	44671893		2203	4300	6503	SLC12A5	SO:0001583	missense	0			-	HGNC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1237C>T	20.37:g.44671893C>T	ENSP00000387694:p.Pro413Ser	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P413S	ENST00000454036.2	37	c.1237	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658232	0.47467	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84298	-1.83;-1.82	4.47	4.47	0.54385	.	0.068216	0.64402	D	0.000008	T	0.75095	0.3803	N	0.17674	0.51	0.80722	D	1	B;B	0.17465	0.022;0.017	B;B	0.22152	0.038;0.022	T	0.68992	-0.5263	10	0.11794	T	0.64	.	16.6495	0.85185	0.0:1.0:0.0:0.0	.	413;390	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	S	413;390	ENSP00000387694:P413S;ENSP00000243964:P390S	ENSP00000243964:P390S	P	+	1	0	SLC12A5	44105300	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	5.379000	0.66196	2.470000	0.83445	0.462000	0.41574	CCT	-	tigrfam_Na/K/Cl_cotransptS		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	C		-		44671893	1	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44671893	C	T	44671893	3	4	196	1	0	0	0	0	1	0	0	0	14394	623	22	2	1327	2	SLC12A5	20	44671893	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1110834	44671893	18353627	2193	15465											
NCOA5	57727	genome.wustl.edu	37	chr20	44692194	44692194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttcctgcaggatggcttCatcggccatcttggctgcct	10	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:44692194C>T	ENST00000290231.6	-	7	1119	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGGATGGCTTCATCGGCCATC	0.582																																																	0								ENSG00000124160						64	58	60					20																	44692194		2203	4300	6503	NCOA5	SO:0001583	missense	0			-	HGNC		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.955G>A	20.37:g.44692194C>T	ENSP00000290231:p.Glu319Lys	Somatic	0	44	0		0.52429534266604	13	50	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	46	32.35	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP							superfamily_Anticodon-bd	p.E319K	ENST00000290231.6	37	c.955	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563670	0.65651	.	.	ENSG00000124160	ENST00000290231	T	0.49139	0.79	5.41	5.41	0.78517	Anticodon-binding (1);	0.226724	0.52532	D	0.000064	T	0.40645	0.1125	L	0.29908	0.895	0.41511	D	0.988345	B	0.09022	0.002	B	0.08055	0.003	T	0.20739	-1.0266	10	0.56958	D	0.05	-4.3913	18.3708	0.90406	0.0:1.0:0.0:0.0	.	319	Q9HCD5	NCOA5_HUMAN	K	319	ENSP00000290231:E319K	ENSP00000290231:E319K	E	-	1	0	NCOA5	44125601	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.932000	0.70121	2.816000	0.96949	0.561000	0.74099	GAA	-	superfamily_Anticodon-bd		0.582	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	protein_coding	OTTHUMT00000079559.1	C	NM_020967	-		44692194	-1	no_errors	ENST00000290231	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44692194	C	T	44692194	3	4	196	1	0	0	0	0	1	0	0	0	10234	835	29	2	792	2	NCOA5	20	44692194	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	20301	44692194	18333326	2194	15466											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47621718	47621718	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaacttccgtttccagaaaGattttctgaggccctttgag	8	11	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:47621718G>T	ENST00000371917.4	+	26	3544	c.3544G>T	c.(3544-3546)Gat>Tat	p.D1182Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1182					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)			TTTCCAGAAAGATTTTCTGAG	0.448																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0								ENSG00000124198						135	132	133					20																	47621718		2203	4300	6503	ARFGEF2	SO:0001583	missense	0			-	HGNC	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.3544G>T	20.37:g.47621718G>T	ENSP00000360985:p.Asp1182Tyr	Somatic	0	81	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	97	28.68	Q5TFT9|Q9NTS1	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.D1182Y	ENST00000371917.4	37	c.3544	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013943	0.93404	.	.	ENSG00000124198	ENST00000371917	T	0.65916	-0.18	5.95	5.95	0.96441	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88825	0.3301	10	0.87932	D	0	.	20.3923	0.98948	0.0:0.0:1.0:0.0	.	1182	Q9Y6D5	BIG2_HUMAN	Y	1182	ENSP00000360985:D1182Y	ENSP00000360985:D1182Y	D	+	1	0	ARFGEF2	47055125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.831000	0.97527	0.609000	0.83330	GAT	-	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold		0.448	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	protein_coding	OTTHUMT00000079627.1	G	NM_006420	-		47621718	1	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47621718	G	T	47621718	3	4	196	1	0	0	0	0	1	0	0	0	853	942	33	3	3646	3	ARFGEF2	20	47621718	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2929524	47621718	15403802	2195	15467											
PTGIS	5740	genome.wustl.edu	37	chr20	48129663	48129663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgggggctcaggaagGggaagaggaggaggcggtca	20	7	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:48129663G>A	ENST00000244043.4	-	8	1189	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	387					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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 (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GCTCAGGAAGGGGAAGAGGAG	0.607																																																	0								ENSG00000124212						93	93	93					20																	48129663		2203	4300	6503	PTGIS	SO:0001583	missense	0			-	HGNC		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1160C>T	20.37:g.48129663G>A	ENSP00000244043:p.Pro387Leu	Somatic	0	27	0		0.52429534266604	17	51.43	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.P387L	ENST00000244043.4	37	c.1160	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040897	0.93685	.	.	ENSG00000124212	ENST00000244043	T	0.63096	-0.02	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80874	-0.1187	10	0.87932	D	0	-9.0479	16.5218	0.84319	0.0:0.0:1.0:0.0	.	387	Q16647	PTGIS_HUMAN	L	387	ENSP00000244043:P387L	ENSP00000244043:P387L	P	-	2	0	PTGIS	47563070	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.190000	0.94934	2.202000	0.70862	0.561000	0.74099	CCC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I		0.607	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	protein_coding	OTTHUMT00000080496.2	G		-		48129663	-1	no_errors	ENST00000244043	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48129663	G	A	48129663	3	1	196	1	0	0	0	0	1	0	0	0	12758	1232	43	2	354	2	PTGIS	20	48129663	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	507945	48129663	14895857	2196	15468											
B4GALT5	9334	genome.wustl.edu	37	chr20	48260071	48260071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcacaccctaccttccaccGaggcatgcaatcagaaggct	7	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:48260071G>A	ENST00000371711.4	-	4	668	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	161					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACCTTCCACCGAGGCATGCAA	0.478																																																	0								ENSG00000158470						157	133	141					20																	48260071		2203	4300	6503	B4GALT5	SO:0001583	missense	0			-	HGNC	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.481C>T	20.37:g.48260071G>A	ENSP00000360776:p.Arg161Trp	Somatic	0	50	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	42	41.67	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP							pfam_Galactosyl_T_C,prints_Galactosyl_T	p.R161W	ENST00000371711.4	37	c.481	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862092	0.91511	.	.	ENSG00000158470	ENST00000371711	T	0.27256	1.68	5.46	4.5	0.54988	.	0.050980	0.85682	D	0.000000	T	0.53626	0.1808	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.65140	0.932	T	0.62950	-0.6745	10	0.62326	D	0.03	-14.755	15.6896	0.77439	0.0:0.0:0.8621:0.1379	.	161	O43286	B4GT5_HUMAN	W	161	ENSP00000360776:R161W	ENSP00000360776:R161W	R	-	1	2	B4GALT5	47693478	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	8.011000	0.88624	1.279000	0.44446	0.561000	0.74099	CGG	-	pfam_Galactosyl_T_C		0.478	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	protein_coding	OTTHUMT00000080543.3	G	NM_004776	-		48260071	-1	no_errors	ENST00000371711	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48260071	G	A	48260071	3	1	196	1	0	0	0	0	1	0	0	0	1274	1057	37	1	709	1	B4GALT5	20	48260071	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	130408	48260071	14765449	2197	15469											
B4GALT5	9334	genome.wustl.edu	37	chr20	48260127	48260127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgatggttgggtctttgGagaagagttcatgaatgtaa	14	3	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:48260127G>A	ENST00000371711.4	-	4	612	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	142					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGGGTCTTTGGAGAAGAGTTC	0.468																																																	0								ENSG00000158470						194	172	179					20																	48260127		2203	4300	6503	B4GALT5	SO:0001583	missense	0			-	HGNC	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.425C>T	20.37:g.48260127G>A	ENSP00000360776:p.Ser142Phe	Somatic	0	58	0		0.52429534266604	2	71.43	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	65	36.27	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP							pfam_Galactosyl_T_C,prints_Galactosyl_T	p.S142F	ENST00000371711.4	37	c.425	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549334	0.65311	.	.	ENSG00000158470	ENST00000371711	T	0.22945	1.93	5.46	5.46	0.80206	.	0.317141	0.39544	N	0.001335	T	0.39860	0.1094	M	0.79693	2.465	0.48040	D	0.999576	B	0.19935	0.04	B	0.29176	0.099	T	0.31308	-0.9948	10	0.51188	T	0.08	-26.4116	19.3065	0.94164	0.0:0.0:1.0:0.0	.	142	O43286	B4GT5_HUMAN	F	142	ENSP00000360776:S142F	ENSP00000360776:S142F	S	-	2	0	B4GALT5	47693534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.607000	0.61133	2.547000	0.85894	0.561000	0.74099	TCC	-	pfam_Galactosyl_T_C		0.468	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	protein_coding	OTTHUMT00000080543.3	G	NM_004776	-		48260127	-1	no_errors	ENST00000371711	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48260127	G	A	48260127	3	1	196	1	0	0	0	0	1	0	0	0	1274	1174	41	2	765	2	B4GALT5	20	48260127	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	56	48260127	14765393	2198	15470											
ADNP	23394	genome.wustl.edu	37	chr20	49510023	49510023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgactgagagagggaagGagactttaactggcccgatg	15	7	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:49510023G>A	ENST00000396029.3	-	5	1795	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	ADNP_ENST00000396032.3_Missense_Mutation_p.P410S|ADNP_ENST00000371602.4_Missense_Mutation_p.P410S|ADNP_ENST00000349014.3_Missense_Mutation_p.P410S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	410					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						GAGAGGGAAGGAGACTTTAAC	0.557																																																	0								ENSG00000101126						106	108	107					20																	49510023		2203	4300	6503	ADNP	SO:0001583	missense	0			-	HGNC	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.1228C>T	20.37:g.49510023G>A	ENSP00000379346:p.Pro410Ser	Somatic	0	60	0		0.52429534266604	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	60	40.00	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P410S	ENST00000396029.3	37	c.1228	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474560	0.12521	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.08	3.97	0.46021	.	0.411624	0.30159	N	0.010261	T	0.13927	0.0337	N	0.03608	-0.345	0.33290	D	0.563466	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	9	0.10902	T	0.67	-19.3374	1.0279	0.01532	0.2093:0.1414:0.4208:0.2285	.	410	Q9H2P0	ADNP_HUMAN	S	410	.	ENSP00000342905:P410S	P	-	1	0	ADNP	48943430	0.698000	0.27777	0.999000	0.59377	0.993000	0.82548	0.215000	0.17562	1.588000	0.49971	0.655000	0.94253	CCT	-	NULL		0.557	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	protein_coding	OTTHUMT00000079705.2	G	NM_181442	-		49510023	-1	no_errors	ENST00000349014	ensembl	human	known	74_37	missense	SNP	0.726	A	A	49510023	G	A	49510023	3	1	196	1	0	0	0	0	1	0	0	0	323	1174	41	2	2084	2	ADNP	20	49510023	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1249896	49510023	13515497	2199	15471											
ZBP1	81030	genome.wustl.edu	37	chr20	56191429	56191429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagaggacttggttgagctCcctcttgggtgcttggcatt	14	8	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:56191429C>T	ENST00000371173.3	-	2	307	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ZBP1_ENST00000343535.4_Missense_Mutation_p.E44K|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.E44K|ZBP1_ENST00000340462.4_Missense_Mutation_p.E44K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	44					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGGTTGAGCTCCCTCTTGGGT	0.577																																																	0								ENSG00000124256						174	164	167					20																	56191429		2203	4300	6503	ZBP1	SO:0001583	missense	0			-	HGNC	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.130G>A	20.37:g.56191429C>T	ENSP00000360215:p.Glu44Lys	Somatic	0	61	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	74	14.94	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP							pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.E44K	ENST00000371173.3	37	c.130	CCDS13461.1	20	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335510	0.11013	.	.	ENSG00000124256	ENST00000371173;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	3.63	0.162	0.14981	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.597630	0.03829	N	0.268829	T	0.28863	0.0716	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.24651	0.02;0.108;0.108	B;B;B	0.26517	0.013;0.07;0.07	T	0.16867	-1.0388	10	0.12103	T	0.63	-2.5919	2.7307	0.05226	0.0:0.2746:0.2623:0.4631	.	44;44;44	F5GYT1;A2RRL9;Q9H171	.;.;ZBP1_HUMAN	K	44	ENSP00000360215:E44K;ENSP00000344954:E44K;ENSP00000340584:E44K;ENSP00000440552:E44K	ENSP00000344954:E44K	E	-	1	0	ZBP1	55624835	0.031000	0.19500	0.057000	0.19452	0.838000	0.47535	-0.146000	0.10250	0.043000	0.15746	0.561000	0.74099	GAG	-	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	protein_coding	OTTHUMT00000079849.1	C	NM_030776	-		56191429	-1	no_errors	ENST00000343535	ensembl	human	known	74_37	missense	SNP	0.072	T	T	56191429	C	T	56191429	3	4	196	1	0	0	0	0	1	0	0	0	17528	864	30	2	1264	2	ZBP1	20	56191429	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	6681406	56191429	6834091	2200	15472											
STX16	8675	genome.wustl.edu	37	chr20	57248696	57248696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattacctagggtacagtcCttgacagaattgactataac	7	8	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57248696C>T	ENST00000371141.4	+	8	1526	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	STX16_ENST00000371132.4_Missense_Mutation_p.L247F|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.L268F|STX16_ENST00000359617.4_Missense_Mutation_p.L215F|STX16_ENST00000361770.5_Missense_Mutation_p.L251F|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000358029.4_Missense_Mutation_p.L264F|STX16_ENST00000355957.5_Missense_Mutation_p.L251F|STX16_ENST00000361830.3_Missense_Mutation_p.L268F	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	268	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GGGTACAGTCCTTGACAGAAT	0.363																																																	0								ENSG00000254995						128	111	117					20																	57248696		2203	4300	6503	STX16-NPEPL1	SO:0001583	missense	0			-	HGNC	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.802C>T	20.37:g.57248696C>T	ENSP00000360183:p.Leu268Phe	Somatic	0	67	0		0.52429534266604	13	31.58	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	81	14.74	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP							pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L268F	ENST00000371141.4	37	c.802	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.202514	0.94997	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T;T	0.44482	1.6;1.6;1.6;1.6;1.6;1.6;1.6;0.92	5.95	5.95	0.96441	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.64402	U	0.000001	T	0.75287	0.3829	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.994;0.999	D;D;D;D	0.85130	0.991;0.997;0.976;0.996	T	0.80977	-0.1141	10	0.87932	D	0	.	19.3736	0.94500	0.0:1.0:0.0:0.0	.	264;251;247;268	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	F	251;251;215;268;215;247;264;268;162;82	ENSP00000348229:L251F;ENSP00000355408:L251F;ENSP00000352634:L215F;ENSP00000360183:L268F;ENSP00000360173:L247F;ENSP00000350723:L264F;ENSP00000354445:L268F;ENSP00000401801:L162F	ENSP00000360180:L215F	L	+	1	0	STX16	56682102	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	CTT	-	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.363	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	protein_coding	OTTHUMT00000080517.2	C	NM_001001433	-		57248696	1	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57248696	C	T	57248696	3	4	196	1	0	0	0	0	1	0	0	0	15346	681	24	2	832	2	STX16	20	57248696	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1057267	57248696	5776824	2201	15473											
ZNF831	128611	genome.wustl.edu	37	chr20	57769273	57769273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaggcacacttagttcagGacatggagggtgacagccac	14	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57769273G>A	ENST00000371030.2	+	1	3199	c.3199G>A	c.(3199-3201)Gac>Aac	p.D1067N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1067							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTAGTTCAGGACATGGAGGG	0.627																																																	0								ENSG00000124203						32	36	34					20																	57769273		2073	4225	6298	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3199G>A	20.37:g.57769273G>A	ENSP00000360069:p.Asp1067Asn	Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	71	16.47	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1067N	ENST00000371030.2	37	c.3199	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836584	0.50951	.	.	ENSG00000124203	ENST00000371030	T	0.10005	2.92	3.83	2.87	0.33458	.	0.662785	0.13010	N	0.420905	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	B	0.29270	0.24	B	0.20767	0.031	T	0.26950	-1.0088	10	0.54805	T	0.06	-1.935	8.6821	0.34214	0.1134:0.0:0.8866:0.0	.	1067	Q5JPB2	ZN831_HUMAN	N	1067	ENSP00000360069:D1067N	ENSP00000360069:D1067N	D	+	1	0	ZNF831	57202668	0.048000	0.20356	0.003000	0.11579	0.025000	0.11179	2.264000	0.43302	0.697000	0.31718	0.609000	0.83330	GAC	-	NULL		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	G	NM_178457	-		57769273	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.002	A	A	57769273	G	A	57769273	3	1	196	1	0	0	0	0	1	0	0	0	18192	1174	41	2	3201	2	ZNF831	20	57769273	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	520577	57769273	5256247	2202	15474											
ZNF831	128611	genome.wustl.edu	37	chr20	57828127	57828127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgactgcagacaaacCttaggaaccctctctcttgg	10	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57828127C>T	ENST00000371030.2	+	4	4122	c.4122C>T	c.(4120-4122)acC>acT	p.T1374T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1374							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGACAAACCTTAGGAACCC	0.473																																																	0								ENSG00000124203						123	121	121					20																	57828127		1951	4146	6097	ZNF831	SO:0001819	synonymous_variant	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4122C>T	20.37:g.57828127C>T		Somatic	0	35	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	49	26.47	Q5TDR4|Q8TCP0	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1374	ENST00000371030.2	37	c.4122	CCDS42894.1	20																																																																																			-	NULL		0.473	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	C	NM_178457	-		57828127	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	silent	SNP	0.002	T	T	57828127	C	T	57828127	2	4	196	1	0	0	0	0	0	0	0	1	18192	668	24	2		2	ZNF831	20	57828127	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	58854	57828127	5197393	2203	15475											
ZNF831	128611	genome.wustl.edu	37	chr20	57829553	57829553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttccagaggccagtatGggtgtggggaaatgactgtc	14	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57829553G>T	ENST00000371030.2	+	5	4789	c.4789G>T	c.(4789-4791)Ggg>Tgg	p.G1597W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1597							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCCAGTATGGGTGTGGGGA	0.473																																																	0								ENSG00000124203						83	79	81					20																	57829553		1909	4130	6039	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4789G>T	20.37:g.57829553G>T	ENSP00000360069:p.Gly1597Trp	Somatic	0	36	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1597W	ENST00000371030.2	37	c.4789	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933168	0.52866	.	.	ENSG00000124203	ENST00000371030	T	0.05855	3.38	5.66	0.656	0.17844	.	0.899349	0.09536	N	0.788872	T	0.17789	0.0427	L	0.56769	1.78	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.14783	-1.0460	10	0.87932	D	0	-4.9449	7.9091	0.29780	0.396:0.0:0.604:0.0	.	1597	Q5JPB2	ZN831_HUMAN	W	1597	ENSP00000360069:G1597W	ENSP00000360069:G1597W	G	+	1	0	ZNF831	57262948	0.004000	0.15560	0.000000	0.03702	0.035000	0.12851	0.578000	0.23773	0.315000	0.23110	0.650000	0.86243	GGG	-	NULL		0.473	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	G	NM_178457	-		57829553	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	57829553	G	T	57829553	3	4	196	1	0	0	0	0	1	0	0	0	18192	1348	47	3	4807	3	ZNF831	20	57829553	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1426	57829553	5195967	2204	15476											
CDH26	60437	genome.wustl.edu	37	chr20	58562572	58562572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtctcctggttcaagatcGagattctccatttacatcag	8	11	4	2	rs184110890		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:58562572G>A	ENST00000244047.5	+	8	1213	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	CDH26_ENST00000348616.4_Missense_Mutation_p.R301Q			Q8IXH8	CAD26_HUMAN	cadherin 26	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> G (in dbSNP:rs11086690).		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(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCAAGATCGAGATTCTCCA	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		22188	0		0	False		,,,				2504	0																0								ENSG00000124215						96	78	84					20																	58562572		2203	4300	6503	CDH26	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.902G>A	20.37:g.58562572G>A	ENSP00000244047:p.Arg301Gln	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	43	41.89	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R301Q	ENST00000244047.5	37	c.902		20	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.08	1.533555	0.27387	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.52983	0.64;0.64	4.54	-1.01	0.10169	.	0.964284	0.08661	N	0.912469	T	0.32102	0.0818	L	0.33189	0.99	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.25047	-1.0143	10	0.45353	T	0.12	.	5.1729	0.15120	0.4356:0.1493:0.4151:0.0	.	301	Q8IXH8-4	.	Q	301	ENSP00000244047:R301Q;ENSP00000339390:R301Q	ENSP00000244047:R301Q	R	+	2	0	CDH26	57995967	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.861000	0.04268	-0.105000	0.12132	0.655000	0.94253	CGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		G	NM_177980	rs184110890		58562572	1	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58562572	G	A	58562572	3	1	196	1	0	0	0	0	1	0	0	0	3112	1058	37	1	932	1	CDH26	20	58562572	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	733019	58562572	4462948	2205	15477											
CDH4	1002	genome.wustl.edu	37	chr20	60348068	60348068	+	Missense_Mutation	SNP	G	G	A													tccaaataaagccgcagaaaGgaaagaaggtcgtggctctg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:60348068G>A	ENST00000360469.5	+	4	494	c.406G>A	c.(406-408)Gga>Aga	p.G136R	CDH4_ENST00000543233.1_Missense_Mutation_p.G62R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	136					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)			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)			GCCGCAGAAAGGAAAGAAGGT	0.572																																																	0								ENSG00000179242						39	40	40					20																	60348068		2203	4300	6503	CDH4	SO:0001583	missense	0			-	HGNC	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.406G>A	20.37:g.60348068G>A	ENSP00000353656:p.Gly136Arg	Somatic	0	43	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.G136R	ENST00000360469.5	37	c.406	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	2.204	-0.382269	0.04966	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.55052	0.54;0.55	4.84	4.84	0.62591	Cadherin-like (1);	1.143940	0.06484	N	0.733313	T	0.36552	0.0971	N	0.08118	0	0.25888	N	0.983515	P	0.45902	0.868	B	0.36666	0.23	T	0.44711	-0.9310	9	.	.	.	.	17.9449	0.89036	0.0:0.0:1.0:0.0	.	136	P55283	CADH4_HUMAN	R	136;44;62	ENSP00000353656:G136R;ENSP00000443301:G62R	.	G	+	1	0	CDH4	59781463	0.999000	0.42202	0.789000	0.31954	0.005000	0.04900	4.894000	0.63206	2.221000	0.72209	0.655000	0.94253	GGA	-	superfamily_Cadherin-like		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	G	NM_001794	-		60348068	1	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	SNP	0.358	A	A	60348068	G	A	60348068	3	1	196	1	0	0	0	0	1	0	0	0	3114	1001	35	2	420	2	CDH4	20	60348068	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1785496	60348068	2677452	2206	15478	378	2									
CDH4	1002	genome.wustl.edu	37	chr20	60348069	60348069	+	Missense_Mutation	SNP	G	G	A													ccaaataaagccgcagaaagGaaagaaggtcgtggctctgg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:60348069G>A	ENST00000360469.5	+	4	495	c.407G>A	c.(406-408)gGa>gAa	p.G136E	CDH4_ENST00000543233.1_Missense_Mutation_p.G62E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	136					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)			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)			CCGCAGAAAGGAAAGAAGGTC	0.572																																																	0								ENSG00000179242						39	40	40					20																	60348069		2203	4300	6503	CDH4	SO:0001583	missense	0			-	HGNC	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.407G>A	20.37:g.60348069G>A	ENSP00000353656:p.Gly136Glu	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.G136E	ENST00000360469.5	37	c.407	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.502197	0.00157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53857	0.6;0.6	4.84	2.88	0.33553	Cadherin-like (1);	1.143940	0.06484	N	0.733313	T	0.33235	0.0856	N	0.08118	0	0.23336	N	0.997886	B	0.12630	0.006	B	0.10450	0.005	T	0.22977	-1.0201	9	.	.	.	.	10.0532	0.42228	0.0758:0.1384:0.7858:0.0	.	136	P55283	CADH4_HUMAN	E	136;44;62	ENSP00000353656:G136E;ENSP00000443301:G62E	.	G	+	2	0	CDH4	59781464	0.964000	0.33143	0.446000	0.26920	0.002000	0.02628	1.656000	0.37355	0.452000	0.26830	-0.844000	0.03045	GGA	-	superfamily_Cadherin-like		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	G	NM_001794	-		60348069	1	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	SNP	0.215	A	A	60348069	G	A	60348069	3	1	196	1	0	0	0	0	1	0	0	0	3114	1174	41	2	421	2	CDH4	20	60348069	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	60348069	2677451	2207	15479	378	2									
CDH4	1002	genome.wustl.edu	37	chr20	60427860	60427860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaggtggagaaccccatCgacctgtacatctacgtcat	8	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:60427860C>T	ENST00000360469.5	+	6	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_ENST00000543233.1_Silent_p.I187I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	261	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)			AGAACCCCATCGACCTGTACA	0.597																																																	0								ENSG00000179242						169	127	141					20																	60427860		2203	4300	6503	CDH4	SO:0001819	synonymous_variant	0			-	HGNC	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.783C>T	20.37:g.60427860C>T		Somatic	0	34	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.I261	ENST00000360469.5	37	c.783	CCDS13488.1	20																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	C	NM_001794	-		60427860	1	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	SNP	0.992	T	T	60427860	C	T	60427860	2	4	196	1	0	0	0	0	0	0	0	1	3114	874	31	1		1	CDH4	20	60427860	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	79791	60427860	2597660	2208	15480											
DIDO1	11083	genome.wustl.edu	37	chr20	61511108	61511108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccctctcggaagtcggccGatgcccactgtccgtcggcc	11	18	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:61511108G>A	ENST00000266070.4	-	16	6525	c.6200C>T	c.(6199-6201)tCg>tTg	p.S2067L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S2067L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2067					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGTCGGCCGATGCCCACTG	0.682																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0								ENSG00000101191						79	90	86					20																	61511108		2071	4082	6153	DIDO1	SO:0001583	missense	0			-	HGNC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6200C>T	20.37:g.61511108G>A	ENSP00000266070:p.Ser2067Leu	Somatic	0	58	0		0.52429534266604	11	21.43	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	63	26.74	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP							pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.S2067L	ENST00000266070.4	37	c.6200	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023625	0.19433	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	4.98	4.01	0.46588	.	0.727117	0.11252	U	0.583490	T	0.09642	0.0237	L	0.43152	1.355	0.22911	N	0.998577	B	0.20261	0.043	B	0.15052	0.012	T	0.20940	-1.0260	10	0.59425	D	0.04	-0.0398	10.9111	0.47110	0.0:0.1412:0.7124:0.1464	.	2067	Q9BTC0	DIDO1_HUMAN	L	2067	ENSP00000266070:S2067L;ENSP00000378752:S2067L	ENSP00000266070:S2067L	S	-	2	0	DIDO1	60981553	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	2.252000	0.43196	1.042000	0.40150	0.655000	0.94253	TCG	-	NULL		0.682	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	protein_coding	OTTHUMT00000080091.2	G	NM_080796	-		61511108	-1	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	SNP	0.002	A	A	61511108	G	A	61511108	3	1	196	1	0	0	0	0	1	0	0	0	4524	1059	37	1	526	1	DIDO1	20	61511108	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1083248	61511108	1514412	2209	15481											
COL20A1	57642	genome.wustl.edu	37	chr20	61937270	61937270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccctggacaggagcagCcagaggcccctcggctctgg	14	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:61937270C>A	ENST00000358894.6	+	5	475	c.375C>A	c.(373-375)agC>agA	p.S125R	COL20A1_ENST00000326996.6_Missense_Mutation_p.S125R|COL20A1_ENST00000435874.1_Missense_Mutation_p.S125R|COL20A1_ENST00000422202.1_Missense_Mutation_p.S125R	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	125					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACAGGAGCAGCCAGAGGCCCC	0.652																																																	0								ENSG00000101203						37	40	39					20																	61937270		1946	4134	6080	COL20A1	SO:0001583	missense	0			-	HGNC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.375C>A	20.37:g.61937270C>A	ENSP00000351767:p.Ser125Arg	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	49	33.78	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S125R	ENST00000358894.6	37	c.375	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947800	0.18356	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.86694	-2.15;-2.16;-2.1;-2.1	3.64	2.67	0.31697	.	0.466770	0.23716	U	0.045278	T	0.72851	0.3512	L	0.27053	0.805	0.09310	N	1	B	0.30763	0.294	B	0.24974	0.057	T	0.57306	-0.7834	10	0.20519	T	0.43	.	5.1942	0.15227	0.0:0.7567:0.0:0.2433	.	125	Q9P218	COKA1_HUMAN	R	125	ENSP00000351767:S125R;ENSP00000323077:S125R;ENSP00000408690:S125R;ENSP00000414753:S125R	ENSP00000323077:S125R	S	+	3	2	COL20A1	61407715	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.483000	0.22292	1.757000	0.51966	0.467000	0.42956	AGC	-	NULL		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	protein_coding	OTTHUMT00000144595.2	C	NM_020882	-		61937270	1	no_errors	ENST00000326996	ensembl	human	known	74_37	missense	SNP	0.002	A	A	61937270	C	A	61937270	3	1	196	1	0	0	0	0	1	0	0	0	3681	738	26	3	389	3	COL20A1	20	61937270	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	426162	61937270	1088250	2210	15482											
SRMS	6725	genome.wustl.edu	37	chr20	62173583	62173583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtacacaggctccccgccCgagcacactgcgtgcagccg	11	17	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62173583C>T	ENST00000217188.1	-	5	919	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTCCCCGCCCGAGCACACTG	0.647																																																	0								ENSG00000125508						92	73	79					20																	62173583		2202	4300	6502	SRMS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.879G>A	20.37:g.62173583C>T		Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	117	18.18		Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S293	ENST00000217188.1	37	c.879	CCDS13525.1	20																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.647	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	protein_coding	OTTHUMT00000080148.1	C	NM_080823	-		62173583	-1	no_errors	ENST00000217188	ensembl	human	known	74_37	silent	SNP	0.007	T	T	62173583	C	T	62173583	2	4	196	1	0	0	0	0	0	0	0	1	15159	639	23	1		1	SRMS	20	62173583	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	236313	62173583	851937	2211	15483											
PRIC285	85441	genome.wustl.edu	37	chr20	62193253	62193253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgcttctccccacggGgggggcctccgggctgcacc	14	19	1	0	rs200091305	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62193253G>A	ENST00000467148.1	-	11	6683	c.6614C>T	c.(6613-6615)cCc>cTc	p.P2205L	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1636L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2205	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCCCACGGGGGGGGCCTCC	0.637																																																	0								ENSG00000130589						6	8	7					20																	62193253		2136	4226	6362	HELZ2	SO:0001583	missense	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6614C>T	20.37:g.62193253G>A	ENSP00000417401:p.Pro2205Leu	Somatic	0	35	0		0.52429534266604	9	59.09	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.P2205L	ENST00000467148.1	37	c.6614	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489718	0.26686	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80304	-1.36;-1.23	3.88	-2.49	0.06403	ATPase, AAA+ type, core (1);	1.293940	0.05117	N	0.489975	T	0.77718	0.4172	M	0.75447	2.3	0.09310	N	1	B;B	0.32101	0.356;0.01	B;B	0.33960	0.173;0.014	T	0.64118	-0.6482	10	0.62326	D	0.03	.	4.3313	0.11064	0.0825:0.4436:0.1572:0.3168	.	2205;1636	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	1636;2205	ENSP00000393257:P1636L;ENSP00000417401:P2205L	ENSP00000393257:P1636L	P	-	2	0	RP4-697K14.7	61663697	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.801000	0.04550	-0.552000	0.06167	-0.676000	0.03789	CCC	-	superfamily_P-loop_NTPase		0.637	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	G	NM_001037335	-		62193253	-1	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	SNP	0.000	A	A	62193253	G	A	62193253	3	1	196	1	0	0	0	0	1	0	0	0	12490	1232	43	2	1371	2	PRIC285	20	62193253	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	19670	62193253	832267	2212	15484											
ZNF512B	57473	genome.wustl.edu	37	chr20	62591377	62591377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctggggtccgctccttgGgctttcggccccgcttcttt	11	16	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62591377G>A	ENST00000450537.1	-	17	2603	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P848L|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P848L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	848					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCGCTCCTTGGGCTTTCGGCC	0.642																																																	0								ENSG00000196700						71	78	75					20																	62591377		2203	4300	6503	ZNF512B	SO:0001583	missense	0			-	HGNC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2543C>T	20.37:g.62591377G>A	ENSP00000393795:p.Pro848Leu	Somatic	0	55	0		0.52429534266604	26	36.59	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	Q08AK9|Q9ULM4	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P848L	ENST00000450537.1	37	c.2543	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058228	0.55325	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26957	1.7;1.7;1.7	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.32530	0.975	0.58432	D	0.999998	P	0.37015	0.578	B	0.33799	0.17	T	0.07233	-1.0783	10	0.66056	D	0.02	-19.248	15.538	0.76018	0.0:0.0:1.0:0.0	.	848	Q96KM6	Z512B_HUMAN	L	848	ENSP00000358904:P848L;ENSP00000393795:P848L;ENSP00000217130:P848L	ENSP00000217130:P848L	P	-	2	0	ZNF512B	62061821	1.000000	0.71417	0.993000	0.49108	0.150000	0.21749	7.495000	0.81514	2.071000	0.62044	0.313000	0.20887	CCC	-	NULL		0.642	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	protein_coding	OTTHUMT00000080246.1	G	NM_020713	-		62591377	-1	no_errors	ENST00000217130	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62591377	G	A	62591377	3	1	196	1	0	0	0	0	1	0	0	0	17964	1232	43	2	139	2	ZNF512B	20	62591377	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	398124	62591377	434143	2213	15485											
MYT1	4661	genome.wustl.edu	37	chr20	62851279	62851279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcccgccaggacgagtggGaccggcccctggactacacc	12	18	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62851279G>A	ENST00000328439.1	+	13	2549	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	MYT1_ENST00000360149.4_Missense_Mutation_p.D431N|MYT1_ENST00000536311.1_Missense_Mutation_p.D756N	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGACGAGTGGGACCGGCCCCT	0.697																																					GBM(59;481 1041 20555 21139 33705)												0								ENSG00000196132						16	15	15					20																	62851279		2152	4231	6383	MYT1	SO:0001583	missense	0			-	HGNC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2185G>A	20.37:g.62851279G>A	ENSP00000327465:p.Asp729Asn	Somatic	0	72	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	106	19.70	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.D756N	ENST00000328439.1	37	c.2266	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654284	0.88056	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.49432	0.78;0.78;0.78	5.63	5.63	0.86233	Myelin transcription factor 1 (1);	0.051592	0.85682	D	0.000000	T	0.65923	0.2738	L	0.58101	1.795	0.80722	D	1	D;P;D	0.71674	0.998;0.877;0.978	D;P;P	0.68192	0.956;0.678;0.871	T	0.61907	-0.6966	10	0.38643	T	0.18	-38.0054	19.6809	0.95962	0.0:0.0:1.0:0.0	.	756;729;431	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	N	431;729;756	ENSP00000353269:D431N;ENSP00000327465:D729N;ENSP00000442412:D756N	ENSP00000327465:D729N	D	+	1	0	MYT1	62321723	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.325000	0.96381	2.644000	0.89710	0.655000	0.94253	GAC	-	pfam_Myelin_TF		0.697	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	protein_coding	OTTHUMT00000080297.1	G	NM_004535	-		62851279	1	no_errors	ENST00000536311	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62851279	G	A	62851279	3	1	196	1	0	0	0	0	1	0	0	0	10108	1174	41	2	2227	2	MYT1	20	62851279	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	259902	62851279	174241	2214	15486											
TPTE	7179	genome.wustl.edu	37	chr21	10916410	10916410	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgttttataaagagtatCcgtcttggagggagattcca	11	5	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:10916410C>T	ENST00000361285.4	-	20	1565	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	TPTE_ENST00000342420.5_Silent_p.R374R|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Silent_p.R394R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	412	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TAAAGAGTATCCGTCTTGGAG	0.388																																																	0								ENSG00000166157						129	118	122					21																	10916410		2203	4300	6503	TPTE	SO:0001819	synonymous_variant	0			-	HGNC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1236G>A	21.37:g.10916410C>T		Somatic	0	383	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	439	13.53	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R412	ENST00000361285.4	37	c.1236	CCDS13560.2	21																																																																																			-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	C		-		10916410	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	silent	SNP	0.001	T	T	10916410	C	T	10916410	2	4	196	1	0	0	0	0	0	0	0	1	16437	842	30	2		2	TPTE	21	10916410	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		10916410	37213485	2215	15487											
TPTE	7179	genome.wustl.edu	37	chr21	10944776	10944776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaataagtcagaaaaaTactgctgtctcctgtaatat	6	6	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:10944776T>C	ENST00000361285.4	-	11	787	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	TPTE_ENST00000342420.5_Missense_Mutation_p.Y115C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.Y135C	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	153					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTCAGAAAAATACTGCTGTCT	0.323																																																	0								ENSG00000166157						102	112	109					21																	10944776		2203	4299	6502	TPTE	SO:0001583	missense	0			-	HGNC	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.458A>G	21.37:g.10944776T>C	ENSP00000355208:p.Tyr153Cys	Somatic	0	166	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	160	14.44	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y153C	ENST00000361285.4	37	c.458	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	5.845	0.340041	0.11069	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99376	-5.79;-5.79;-5.79	2.31	1.13	0.20643	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.98902	0.9628	M	0.72118	2.19	0.46542	D	0.999097	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.97947	1.0329	10	0.87932	D	0	-30.7885	4.3158	0.10993	0.0:0.1719:0.0:0.8281	.	115;135;153	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	C	135;153;115	ENSP00000298232:Y135C;ENSP00000355208:Y153C;ENSP00000344441:Y115C	ENSP00000298232:Y135C	Y	-	2	0	TPTE	9966647	0.998000	0.40836	0.476000	0.27291	0.148000	0.21650	1.502000	0.35704	0.316000	0.23135	-1.224000	0.01588	TAT	-	pfam_Ion_trans_dom		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	T		-		10944776	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	SNP	0.797	C	C	10944776	T	C	10944776	3	2	196	1	0	0	0	0	1	0	0	0	16437	1406	49	5	1253	5	TPTE	21	10944776	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	28366	10944776	37185119	2216	15488											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19687538	19687538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagtggaacacactctcCatttttacattgaaaatggt	6	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:19687538C>T	ENST00000284885.3	-	17	1990	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	653	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.					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						ACACACTCTCCATTTTTACAT	0.393																																																	0								ENSG00000154646						172	142	152					21																	19687538		2203	4300	6503	TMPRSS15	SO:0001583	missense	0			-	HGNC		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.1957G>A	21.37:g.19687538C>T	ENSP00000284885:p.Gly653Arg	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q2NKL7	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.G653R	ENST00000284885.3	37	c.1957	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903591	0.52333	.	.	ENSG00000154646	ENST00000284885	D	0.92805	-3.11	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96128	0.8738	M	0.83603	2.65	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.95847	0.8871	9	.	.	.	.	16.4399	0.83896	0.0:1.0:0.0:0.0	.	653	P98073	ENTK_HUMAN	R	653	ENSP00000284885:G653R	.	G	-	1	0	TMPRSS15	18609409	1.000000	0.71417	0.981000	0.43875	0.084000	0.17831	2.997000	0.49457	2.752000	0.94435	0.650000	0.86243	GGA	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.393	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	C	NM_002772	-		19687538	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	SNP	0.997	T	T	19687538	C	T	19687538	3	4	196	1	0	0	0	0	1	0	0	0	16253	603	21	2	1138	2	TMPRSS15	21	19687538	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8742762	19687538	28442357	2217	15489											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19698792	19698792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtaaagtttgctttaaaCcctcctcttgccaacacatc	5	12	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:19698792C>T	ENST00000284885.3	-	16	1911	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	626	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						TTGCTTTAAACCCTCCTCTTG	0.458																																																	0								ENSG00000154646						234	197	209					21																	19698792		2203	4300	6503	TMPRSS15	SO:0001819	synonymous_variant	0			-	HGNC		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.1878G>A	21.37:g.19698792C>T		Somatic	0	65	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	70	34.58	Q2NKL7	Silent	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.G626	ENST00000284885.3	37	c.1878	CCDS13571.1	21																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	C	NM_002772	-		19698792	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	silent	SNP	0.590	T	T	19698792	C	T	19698792	2	4	196	1	0	0	0	0	0	0	0	1	16253	494	18	2		2	TMPRSS15	21	19698792	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	11254	19698792	28431103	2218	15490											
NCAM2	4685	genome.wustl.edu	37	chr21	22881316	22881316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcactaggagaatgtgtgGaaagaaaagtggctccagtg	13	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:22881316G>A	ENST00000400546.1	+	16	2471	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	NCAM2_ENST00000284894.7_Missense_Mutation_p.G599E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	741					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATGTGTGGAAAGAAAAGT	0.443																																																	0								ENSG00000154654						119	113	115					21																	22881316		1959	4170	6129	NCAM2	SO:0001583	missense	0			-	HGNC		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2222G>A	21.37:g.22881316G>A	ENSP00000383392:p.Gly741Glu	Somatic	0	58	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	70	17.65	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.G741E	ENST00000400546.1	37	c.2222	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443628	0.83993	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.62232	0.04;0.18	4.98	4.98	0.66077	.	0.042746	0.85682	D	0.000000	T	0.65450	0.2692	L	0.55213	1.73	0.80722	D	1	D;D	0.53619	0.961;0.961	P;P	0.47206	0.541;0.541	T	0.70956	-0.4731	10	0.87932	D	0	-16.2537	17.699	0.88289	0.0:0.0:1.0:0.0	.	599;741	B7Z5K2;O15394	.;NCAM2_HUMAN	E	741;599	ENSP00000383392:G741E;ENSP00000284894:G599E	ENSP00000284894:G599E	G	+	2	0	NCAM2	21803187	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.327000	0.96396	2.689000	0.91719	0.643000	0.83706	GGA	-	NULL		0.443	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	protein_coding	OTTHUMT00000170915.1	G	NM_004540	-		22881316	1	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22881316	G	A	22881316	3	1	196	1	0	0	0	0	1	0	0	0	10205	1174	41	2	2284	2	NCAM2	21	22881316	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3182524	22881316	25248579	2219	15491											
KRTAP23-1	337963	genome.wustl.edu	37	chr21	31720836	31720836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccaggttgctggggtacGaggagccaccacgggagtag	17	9	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:31720836G>A	ENST00000334160.4	-	1	88	c.89C>T	c.(88-90)tCg>tTg	p.S30L		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	30						intermediate filament (GO:0005882)				large_intestine(1)|lung(4)|prostate(1)	6						GCTGGGGTACGAGGAGCCACC	0.562																																																	0								ENSG00000186980						126	105	113					21																	31720836		2203	4300	6503	KRTAP23-1	SO:0001583	missense	0			-	HGNC	AP001708	CCDS33533.1	21q22.1	2008-05-21			ENSG00000186980	ENSG00000186980		"Keratin associated proteins"	18928	protein-coding gene	gene with protein product						12359730	Standard	NM_181624		Approved	KAP23.1	uc002yny.1	A1A580	OTTHUMG00000057792	ENST00000334160.4:c.89C>T	21.37:g.31720836G>A	ENSP00000346536:p.Ser30Leu	Somatic	0	50	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38		Missense_Mutation	SNP							pfam_KRTAP_PMG	p.S30L	ENST00000334160.4	37	c.89	CCDS33533.1	21	.	.	.	.	.	.	.	.	.	.	G	8.266	0.812356	0.16537	.	.	ENSG00000186980	ENST00000334160	T	0.02837	4.14	3.93	-0.472	0.12115	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	P	0.38300	0.626	B	0.27608	0.081	T	0.45760	-0.9239	8	0.87932	D	0	.	3.7545	0.08579	0.333:0.1855:0.4815:0.0	.	30	A1A580	KR231_HUMAN	L	30	ENSP00000346536:S30L	ENSP00000346536:S30L	S	-	2	0	KRTAP23-1	30642707	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.587000	0.05780	0.063000	0.16370	0.655000	0.94253	TCG	-	pfam_KRTAP_PMG		0.562	KRTAP23-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP23-1	protein_coding	OTTHUMT00000128244.4	G		-		31720836	-1	no_errors	ENST00000334160	ensembl	human	known	74_37	missense	SNP	0.000	A	A	31720836	G	A	31720836	3	1	196	1	0	0	0	0	1	0	0	0	8543	1059	37	1	112	1	KRTAP23-1	21	31720836	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	8839520	31720836	16409059	2220	15492											
KRTAP19-5	337972	genome.wustl.edu	37	chr21	31874326	31874326	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtctgcggaagctgccacatCcacagccatagccatagccc	9	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:31874326C>G	ENST00000334151.2	-	1	109	c.83G>C	c.(82-84)gGa>gCa	p.G28A		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	28						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCTGCCACATCCACAGCCATA	0.597																																																	0								ENSG00000186977						149	132	138					21																	31874326		2203	4300	6503	KRTAP19-5	SO:0001583	missense	0			-	HGNC	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.83G>C	21.37:g.31874326C>G	ENSP00000334985:p.Gly28Ala	Somatic	0	103	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	104	30.67	A4IF22	Missense_Mutation	SNP							pfam_KRTAP_type6/8/16/19/20	p.G28A	ENST00000334151.2	37	c.83	CCDS13597.1	21	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608879	0.28623	.	.	ENSG00000186977	ENST00000334151	T	0.16073	2.37	5.05	4.15	0.48705	.	0.000000	0.40385	U	0.001120	T	0.37865	0.1019	.	.	.	0.34583	D	0.714651	D	0.63880	0.993	D	0.65010	0.931	T	0.56294	-0.8003	9	0.87932	D	0	.	11.0683	0.47989	0.186:0.814:0.0:0.0	.	28	Q3LI72	KR195_HUMAN	A	28	ENSP00000334985:G28A	ENSP00000334985:G28A	G	-	2	0	KRTAP19-5	30796197	0.161000	0.22892	0.196000	0.23383	0.763000	0.43281	3.268000	0.51585	1.246000	0.43901	0.591000	0.81541	GGA	-	pfam_KRTAP_type6/8/16/19/20		0.597	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-5	protein_coding	OTTHUMT00000128226.2	C		-		31874326	-1	no_errors	ENST00000334151	ensembl	human	known	74_37	missense	SNP	0.943	G	G	31874326	C	G	31874326	3	3	196	1	0	0	0	0	1	0	0	0	8534	855	30	4	138	4	KRTAP19-5	21	31874326	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	153490	31874326	16255569	2221	15493											
KRTAP21-2	337978	genome.wustl.edu	37	chr21	32119340	32119340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctagagctgtatccacAgccatatccacagccagagc	9	14	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:32119340A>C	ENST00000333892.2	-	1	211	c.181T>G	c.(181-183)Tgt>Ggt	p.C61G		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	61						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						CTGtatccacagccatatcca	0.517																																																	0								ENSG00000187026						119	100	107					21																	32119340		2203	4300	6503	KRTAP21-2	SO:0001583	missense	0			-	HGNC	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"Keratin associated proteins"	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.181T>G	21.37:g.32119340A>C	ENSP00000334287:p.Cys61Gly	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	69	20.69		Missense_Mutation	SNP							pfam_KRTAP_type6/8/16/19/20	p.C61G	ENST00000333892.2	37	c.181	CCDS13605.1	21	.	.	.	.	.	.	.	.	.	.	A	5.322	0.244832	0.10077	.	.	ENSG00000187026	ENST00000333892	T	0.11169	2.8	4.21	1.73	0.24493	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.26094	0.066	T	0.37361	-0.9709	8	0.44086	T	0.13	-11.6603	3.6743	0.08286	0.7023:0.0:0.1073:0.1904	.	61	Q3LI59	KR212_HUMAN	G	61	ENSP00000334287:C61G	ENSP00000334287:C61G	C	-	1	0	KRTAP21-2	31041211	0.022000	0.18835	0.001000	0.08648	0.012000	0.07955	0.433000	0.21477	0.138000	0.18790	0.528000	0.53228	TGT	-	NULL		0.517	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP21-2	protein_coding	OTTHUMT00000128221.2	A		-		32119340	-1	no_errors	ENST00000333892	ensembl	human	known	74_37	missense	SNP	0.004	C	C	32119340	A	C	32119340	3	2	196	1	0	0	0	0	1	0	0	0	8541	188	7	5	72	5	KRTAP21-2	21	32119340	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	245014	32119340	16010555	2222	15494											
SFRS15	57466	genome.wustl.edu	37	chr21	33057903	33057903	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtggtaaatgcattgggttGaatcctgggcgcaaaaatgg	15	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:33057903G>A	ENST00000286835.7	-	17	2569	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	SCAF4_ENST00000434667.3_Silent_p.F714F|SCAF4_ENST00000399804.1_Silent_p.F729F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	729						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCATTGGGTTGAATCCTGGGC	0.493																																																	0								ENSG00000156304						62	64	64					21																	33057903		2203	4300	6503	SCAF4	SO:0001819	synonymous_variant	0			-	HGNC	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2187C>T	21.37:g.33057903G>A		Somatic	0	45	0		0.52429534266604	25	34.21	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	38	39.68	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP							pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.F729	ENST00000286835.7	37	c.2187	CCDS33537.1	21																																																																																			-	NULL		0.493	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	protein_coding	OTTHUMT00000192659.1	G	XM_047889	-		33057903	-1	no_errors	ENST00000286835	ensembl	human	known	74_37	silent	SNP	1.000	A	A	33057903	G	A	33057903	2	1	196	1	0	0	0	0	0	0	0	1	14179	1281	45	2		2	SFRS15	21	33057903	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	938563	33057903	15071992	2223	15495											
C21orf45	54069	genome.wustl.edu	37	chr21	33651119	33651119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgccgcctcctcctcCagctgcgccctctccatgtc	8	22	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:33651119C>T	ENST00000290130.3	-	1	261	c.207G>A	c.(205-207)ctG>ctA	p.L69L	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	69					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CCTCCTCCTCCAGCTGCGCCC	0.706																																																	0								ENSG00000159055						14	13	13					21																	33651119		2201	4294	6495	MIS18A	SO:0001819	synonymous_variant	0			-	HGNC	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.207G>A	21.37:g.33651119C>T		Somatic	0	33	0		0.52429534266604	12	53.85	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	B2R562|Q542Z0	Silent	SNP							NULL	p.L69	ENST00000290130.3	37	c.207	CCDS13611.1	21																																																																																			-	NULL		0.706	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	protein_coding	OTTHUMT00000193090.1	C	NM_018944	-		33651119	-1	no_errors	ENST00000290130	ensembl	human	known	74_37	silent	SNP	0.007	T	T	33651119	C	T	33651119	2	4	196	1	0	0	0	0	0	0	0	1	2128	581	21	2		2	C21orf45	21	33651119	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	593216	33651119	14478776	2224	15496											
ERG	2078	genome.wustl.edu	37	chr21	39817383	39817383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatggtgaccctggctggGggttgagacagccaatcctg	15	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:39817383G>A	ENST00000417133.2	-	4	386	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ERG_ENST00000429727.2_Silent_p.P60P|ERG_ENST00000398907.1_Silent_p.P60P|ERG_ENST00000398919.2_Silent_p.P67P|ERG_ENST00000398910.1_Silent_p.P67P|ERG_ENST00000398905.1_Silent_p.P60P|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Silent_p.P60P|ERG_ENST00000442448.1_Silent_p.P67P|ERG_ENST00000398911.1_Silent_p.P67P|ERG_ENST00000453032.2_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			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)	CCCTGGCTGGGGGTTGAGACA	0.557			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0								ENSG00000157554						92	77	82					21																	39817383		2203	4300	6503	ERG	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.201C>T	21.37:g.39817383G>A		Somatic	0	68	0		0.52429534266604	15	21.05	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	67	26.88	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP							pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P67	ENST00000417133.2	37	c.201	CCDS46648.1	21																																																																																			-	NULL		0.557	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	protein_coding	OTTHUMT00000207532.2	G	NM_182918	-		39817383	-1	no_errors	ENST00000398919	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39817383	G	A	39817383	2	1	196	1	0	0	0	0	0	0	0	1	5224	1219	43	2		2	ERG	21	39817383	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	6166264	39817383	8312512	2225	15497											
RIPK4	54101	genome.wustl.edu	37	chr21	43171362	43171362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catccatgctgaggtcatgcGagtgggacagcccgttgcac	13	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:43171362G>A	ENST00000352483.2	-	3	582	c.518C>T	c.(517-519)tCg>tTg	p.S173L	RIPK4_ENST00000332512.3_Missense_Mutation_p.S173L|RIPK4_ENST00000544709.1_Missense_Mutation_p.S110L|RIPK4_ENST00000542057.1_Missense_Mutation_p.S110L			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCATGCGAGTGGGACAG	0.537																																																	0								ENSG00000183421						138	120	126					21																	43171362		2203	4300	6503	RIPK4	SO:0001583	missense	0			-	HGNC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.518C>T	21.37:g.43171362G>A	ENSP00000330161:p.Ser173Leu	Somatic	0	56	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	64	34.02	Q96KH0	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S173L	ENST00000352483.2	37	c.518		21	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120105	0.56613	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.59	4.59	0.56863	.	0.108389	0.40302	N	0.001126	T	0.53610	0.1807	L	0.45422	1.42	0.41019	D	0.985062	P	0.39964	0.697	B	0.35073	0.195	T	0.58736	-0.7584	10	0.40728	T	0.16	-9.9523	16.3904	0.83533	0.0:0.0:1.0:0.0	.	173	P57078-2	.	L	173;173;110;110	ENSP00000332454:S173L;ENSP00000330161:S173L;ENSP00000441754:S110L;ENSP00000442901:S110L	ENSP00000332454:S173L	S	-	2	0	RIPK4	42044431	1.000000	0.71417	0.891000	0.34965	0.339000	0.28857	7.008000	0.76341	2.088000	0.63022	0.561000	0.74099	TCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.537	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	protein_coding		G	NM_020639	-		43171362	-1	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	SNP	0.999	A	A	43171362	G	A	43171362	3	1	196	1	0	0	0	0	1	0	0	0	13391	1059	37	1	1860	1	RIPK4	21	43171362	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3353979	43171362	4958533	2226	15498											
PRDM15	63977	genome.wustl.edu	37	chr21	43243717	43243717	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagcacatccacgcggAagaacttgcgcccgcagatc	10	16	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:43243717A>T	ENST00000269844.3	-	21	2926	c.2816T>A	c.(2815-2817)tTc>tAc	p.F939Y	PRDM15_ENST00000538201.1_Missense_Mutation_p.F593Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.F573Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.F610Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.F630Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	939					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ATCCACGCGGAAGAACTTGCG	0.617																																																	0								ENSG00000141956						92	66	74					21																	43243717		2203	4298	6501	PRDM15	SO:0001583	missense	0			-	HGNC	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2816T>A	21.37:g.43243717A>T	ENSP00000269844:p.Phe939Tyr	Somatic	0	29	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	29.79	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.F939Y	ENST00000269844.3	37	c.2816	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	a	23.0	4.366048	0.82463	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.13	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70640	0.3247	N	0.04655	-0.195	0.44323	D	0.997204	P;B;D	0.71674	0.489;0.136;0.998	B;B;D	0.79108	0.176;0.049;0.992	T	0.66232	-0.5975	9	0.17369	T	0.5	-29.1702	10.2714	0.43485	0.9212:0.0:0.0788:0.0	.	939;630;610	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	630;610;593;573;939	ENSP00000408592:F630Y;ENSP00000381556:F610Y;ENSP00000444044:F593Y;ENSP00000390245:F573Y;ENSP00000269844:F939Y	ENSP00000269844:F939Y	F	-	2	0	PRDM15	42116786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	0.904000	0.36572	0.454000	0.30748	TTC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	protein_coding		A	NM_022115	-		43243717	-1	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43243717	A	T	43243717	3	4	196	1	0	0	0	0	1	0	0	0	12461	246	9	5	1751	5	PRDM15	21	43243717	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	72355	43243717	4886178	2227	15499											
SIK1	150094	genome.wustl.edu	37	chr21	44839293	44839293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggacggactgcaccaaGgtctgcggctgcgggcacag	17	11	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:44839293G>A	ENST00000270162.6	-	10	1317	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	395					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	ACTGCACCAAGGTCTGCGGCT	0.667																																																	0								ENSG00000142178						45	47	46					21																	44839293		2202	4300	6502	SIK1	SO:0001819	synonymous_variant	0			-	HGNC	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1185C>T	21.37:g.44839293G>A		Somatic	0	59	0		0.52429534266604	14	12.5	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	55	32.10	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T395	ENST00000270162.6	37	c.1185	CCDS33575.1	21																																																																																			-	pirsf_Ser/Thr_kinase_SIK1/2		0.667	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	protein_coding	OTTHUMT00000195654.1	G	NM_173354	-		44839293	-1	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	SNP	0.003	A	A	44839293	G	A	44839293	2	1	196	1	0	0	0	0	0	0	0	1	14325	987	35	2		2	SIK1	21	44839293	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1595576	44839293	3290602	2228	15500											
DNMT3L	29947	genome.wustl.edu	37	chr21	45674502	45674502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcacggcggtactcacatCcttcctcactgtgtctgtga	9	13	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:45674502C>T	ENST00000418993.1	-	8	1174	c.691G>A	c.(691-693)Gat>Aat	p.D231N	DNMT3L_ENST00000270172.3_Missense_Mutation_p.D231N	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	231					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTACTCACATCCTTCCTCACT	0.567																																																	0								ENSG00000142182						127	102	110					21																	45674502		2203	4299	6502	DNMT3L	SO:0001583	missense	0			-	HGNC	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.691G>A	21.37:g.45674502C>T	ENSP00000412862:p.Asp231Asn	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	E9PB42|Q9BUJ4	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.D231N	ENST00000418993.1	37	c.691	CCDS46650.1	21	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125963	0.20959	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.78364	-1.17;-1.17;-1.17	3.68	3.68	0.42216	.	0.127825	0.52532	D	0.000069	T	0.73885	0.3644	L	0.41356	1.27	0.33895	D	0.637839	P;P	0.45011	0.848;0.848	P;P	0.51777	0.679;0.679	T	0.73688	-0.3904	10	0.11182	T	0.66	-18.5806	11.1079	0.48214	0.0:1.0:0.0:0.0	.	231;231	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	N	231;231;216	ENSP00000270172:D231N;ENSP00000412862:D231N;ENSP00000400242:D216N	ENSP00000270172:D231N	D	-	1	0	DNMT3L	44498930	0.018000	0.18449	0.994000	0.49952	0.214000	0.24535	0.656000	0.24948	2.080000	0.62538	0.561000	0.74099	GAT	-	NULL		0.567	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	protein_coding	OTTHUMT00000195820.1	C	NM_013369	-		45674502	-1	no_errors	ENST00000270172	ensembl	human	known	74_37	missense	SNP	0.991	T	T	45674502	C	T	45674502	3	4	196	1	0	0	0	0	1	0	0	0	4680	855	30	2	492	2	DNMT3L	21	45674502	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	835209	45674502	2455393	2229	15501											
PFKL	5211	genome.wustl.edu	37	chr21	45742861	45742861	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaccctgcccaagggcCagctggagtccattgtggag	15	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:45742861C>T	ENST00000349048.4	+	15	1481	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	PFKL_ENST00000403390.1_Nonsense_Mutation_p.Q523*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	476	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCCAAGGGCCAGCTGGAGTC	0.582																																																	0								ENSG00000141959						140	106	118					21																	45742861		2202	4300	6502	PFKL	SO:0001587	stop_gained	0			-	HGNC		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1426C>T	21.37:g.45742861C>T	ENSP00000269848:p.Gln476*	Somatic	0	40	0		0.52429534266604	216	0.46	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	65	22.62	Q96A64|Q96IH4|Q9BR91	Nonsense_Mutation	SNP							pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.Q523*	ENST00000349048.4	37	c.1567	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518499	0.85495	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	.	.	.	3.61	2.54	0.30619	.	0.555448	0.18921	U	0.127490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6304	4.1249	0.10123	0.0:0.2679:0.0:0.7321	.	.	.	.	X	476;269;523	.	ENSP00000269848:Q476X	Q	+	1	0	PFKL	44567289	0.004000	0.15560	0.762000	0.31397	0.090000	0.18270	1.094000	0.30951	0.477000	0.27464	0.491000	0.48974	CAG	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.582	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	protein_coding	OTTHUMT00000195805.1	C		-		45742861	1	no_errors	ENST00000403390	ensembl	human	known	74_37	nonsense	SNP	0.249	T	T	45742861	C	T	45742861	4	4	196	1	0	0	0	0	0	1	0	0	11766	595	21	2	1484	2	PFKL	21	45742861	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	68359	45742861	2387034	2230	15502											
COL6A1	1291	genome.wustl.edu	37	chr21	47417647	47417647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggacctgccggacccCctggagacccggggctgatg	14	17	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47417647C>T	ENST00000361866.3	+	22	1609	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	499	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGCCGGACCCCCTGGAGACCC	0.701																																																	0								ENSG00000142156						20	25	24					21																	47417647		2187	4288	6475	COL6A1	SO:0001583	missense	0			-	HGNC	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1495C>T	21.37:g.47417647C>T	ENSP00000355180:p.Pro499Ser	Somatic	0	107	0		0.52429534266604	3352	22.7	985	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	118	17.48	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P499S	ENST00000361866.3	37	c.1495	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962818	0.34659	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93953	-3.32	4.48	2.61	0.31194	.	0.306885	0.30219	N	0.010127	D	0.89777	0.6813	L	0.57536	1.79	0.42178	D	0.991673	B	0.31769	0.339	B	0.33690	0.168	D	0.85404	0.1133	10	0.32370	T	0.25	-27.6034	7.7935	0.29133	0.0:0.8034:0.0:0.1966	.	499	P12109	CO6A1_HUMAN	S	499	ENSP00000355180:P499S	ENSP00000355180:P499S	P	+	1	0	COL6A1	46242075	0.703000	0.27826	0.996000	0.52242	0.254000	0.26022	2.604000	0.46274	1.025000	0.39708	0.447000	0.29281	CCT	-	pfam_Collagen		0.701	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	protein_coding	OTTHUMT00000206877.1	C	NM_001848	-		47417647	1	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	SNP	0.992	T	T	47417647	C	T	47417647	3	4	196	1	0	0	0	0	1	0	0	0	3701	623	22	2	1581	2	COL6A1	21	47417647	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1674786	47417647	712248	2231	15503											
C21orf56	84221	genome.wustl.edu	37	chr21	47588307	47588307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaggccggaccatctcCctgggctccagcagggtctt	11	14	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47588307C>T	ENST00000291672.5	-	3	1520	c.459G>A	c.(457-459)agG>agA	p.R153R	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	153																	GGACCATCTCCCTGGGCTCCA	0.637																																																	0								ENSG00000160284						45	40	42					21																	47588307		2203	4300	6503	SPATC1L	SO:0001819	synonymous_variant	0			-	HGNC	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.459G>A	21.37:g.47588307C>T		Somatic	0	53	0		0.52429534266604	131	37.02	77	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	47	32.86	B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP							NULL	p.R153	ENST00000291672.5	37	c.459	CCDS46653.1	21																																																																																			-	NULL		0.637	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	protein_coding	OTTHUMT00000376654.1	C	NM_032261	-		47588307	-1	no_errors	ENST00000291672	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47588307	C	T	47588307	2	4	196	1	0	0	0	0	0	0	0	1	2129	622	22	2		2	C21orf56	21	47588307	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	170660	47588307	541588	2232	15504											
MCM3AP	8888	genome.wustl.edu	37	chr21	47662715	47662715	+	Splice_Site	SNP	C	C	T													catactgaacatgaacctcaCcgtccctctctcagctgtag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47662715C>T	ENST00000397708.1	-	26	5681		c.e26+1		MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_Splice_Site|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000291688.1_Splice_Site|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGAACCTCACCGTCCCTCTC	0.388																																																	0								ENSG00000160294						141	110	120					21																	47662715		2203	4300	6503	MCM3AP	SO:0001630	splice_region_variant	0			-	HGNC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+1G>A	21.37:g.47662715C>T		Somatic	0	33	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	56	30.00	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Splice_Site	SNP							-	e25+1	ENST00000397708.1	37	c.5426+1	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029220	0.54790	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3151	0.90218	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM3AP	46487143	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	4.566000	0.60843	2.765000	0.95021	0.655000	0.94253	.	-	-		0.388	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	C	NM_003906	-	Intron	47662715	-1	no_errors	ENST00000291688	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	47662715	C	T	47662715	5	4	196	1	0	0	0	0	0	0	1	0	9390	521	18	2	531	2	MCM3AP	21	47662715	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	74408	47662715	467180	2233	15505	379	2									
MCM3AP	8888	genome.wustl.edu	37	chr21	47662716	47662716	+	Splice_Site	SNP	C	C	T													atactgaacatgaacctcacCgtccctctctcagctgtagc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47662716C>T	ENST00000397708.1	-	26	5680	c.5426G>A	c.(5425-5427)cGt>cAt	p.R1809H	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000291688.1_Splice_Site_p.R1809H|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1809					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAACCTCACCGTCCCTCTCT	0.393																																																	0								ENSG00000160294						141	110	120					21																	47662716		2203	4300	6503	MCM3AP	SO:0001630	splice_region_variant	0			-	HGNC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+1G>A	21.37:g.47662716C>T		Somatic	0	33	0		0.52429534266604	165	1.78	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	57	28.75	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP							pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R1809H	ENST00000397708.1	37	c.5426	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088652	0.76756	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03607	3.87;3.87	5.84	5.84	0.93424	.	0.713403	0.14659	N	0.306044	T	0.10165	0.0249	L	0.32530	0.975	0.46044	D	0.99883	P;D	0.76494	0.955;0.999	B;P	0.59288	0.379;0.855	T	0.34477	-0.9827	9	.	.	.	0.0057	18.3151	0.90218	0.0:1.0:0.0:0.0	.	1809;304	O60318;B3KT88	MCM3A_HUMAN;.	H	1809;1809;304	ENSP00000380820:R1809H;ENSP00000291688:R1809H	.	R	-	2	0	MCM3AP	46487144	0.997000	0.39634	0.966000	0.40874	0.448000	0.32197	4.566000	0.60843	2.765000	0.95021	0.655000	0.94253	CGT	-	NULL		0.393	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	C	NM_003906	-	Missense_Mutation	47662716	-1	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	SNP	0.995	T	T	47662716	C	T	47662716	5	4	196	1	0	0	0	0	0	0	1	0	9390	666	23	1	532	1	MCM3AP	21	47662716	Splice_Site	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	47662716	467179	2234	15506	379	2									
MCM3AP	8888	genome.wustl.edu	37	chr21	47704036	47704036	+	Missense_Mutation	SNP	G	G	A													tttattcacacctggaatccGggaaggtgccaggacagact							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47704036G>A	ENST00000397708.1	-	2	1419	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	YBEY_ENST00000397692.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R389W|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	389					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTGGAATCCGGGAAGGTGCC	0.478																																																	0								ENSG00000160294						103	108	106					21																	47704036		2203	4300	6503	MCM3AP	SO:0001583	missense	0			-	HGNC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1165C>T	21.37:g.47704036G>A	ENSP00000380820:p.Arg389Trp	Somatic	0	64	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	77	28.70	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP							pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R389W	ENST00000397708.1	37	c.1165	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404173	0.62288	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03889	3.77;3.77	5.33	2.39	0.29439	.	0.366594	0.25164	N	0.032654	T	0.09774	0.0240	L	0.29908	0.895	0.31087	N	0.711241	D	0.89917	1.0	D	0.67231	0.95	T	0.03957	-1.0989	10	0.72032	D	0.01	-18.4187	8.5963	0.33718	0.0:0.136:0.4077:0.4563	.	389	O60318	MCM3A_HUMAN	W	389	ENSP00000380820:R389W;ENSP00000291688:R389W	ENSP00000291688:R389W	R	-	1	2	MCM3AP	46528464	0.989000	0.36119	0.951000	0.38953	0.897000	0.52465	1.096000	0.30976	0.198000	0.20407	0.563000	0.77884	CGG	-	NULL		0.478	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	G	NM_003906	-		47704036	-1	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	SNP	0.949	A	A	47704036	G	A	47704036	3	1	196	1	0	0	0	0	1	0	0	0	9390	1115	39	1	4889	1	MCM3AP	21	47704036	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	41320	47704036	425859	2235	15507	380	2									
MCM3AP	8888	genome.wustl.edu	37	chr21	47704037	47704037	+	Silent	SNP	G	G	A													ttattcacacctggaatccgGgaaggtgccaggacagactg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47704037G>A	ENST00000397708.1	-	2	1418	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	YBEY_ENST00000397692.1_5'Flank|MCM3AP_ENST00000291688.1_Silent_p.S388S|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	388					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTGGAATCCGGGAAGGTGCCA	0.478																																																	0								ENSG00000160294						104	109	108					21																	47704037		2203	4300	6503	MCM3AP	SO:0001819	synonymous_variant	0			-	HGNC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1164C>T	21.37:g.47704037G>A		Somatic	0	63	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	78	29.09	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP							pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.S388	ENST00000397708.1	37	c.1164	CCDS13734.1	21																																																																																			-	NULL		0.478	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	G	NM_003906	-		47704037	-1	no_errors	ENST00000291688	ensembl	human	known	74_37	silent	SNP	0.273	A	A	47704037	G	A	47704037	2	1	196	1	0	0	0	0	0	0	0	1	9390	1219	43	2		2	MCM3AP	21	47704037	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	47704037	425858	2236	15508	380	2									
DIP2A	23181	genome.wustl.edu	37	chr21	47918713	47918713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggccgccgctaccactGcactcgcaggcctcgaggcc	14	18	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47918713G>T	ENST00000417564.2	+	5	643	c.622G>T	c.(622-624)Gca>Tca	p.A208S	DIP2A_ENST00000427143.2_Missense_Mutation_p.A144S|DIP2A_ENST00000318711.7_Missense_Mutation_p.A208S|DIP2A_ENST00000400274.1_Missense_Mutation_p.A208S|DIP2A_ENST00000457905.3_Missense_Mutation_p.A208S|DIP2A_ENST00000466639.1_Missense_Mutation_p.A208S|DIP2A_ENST00000435722.3_Missense_Mutation_p.A208S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	208					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTACCACTGCACTCGCAGG	0.662																																																	0								ENSG00000160305						24	32	29					21																	47918713		2031	4161	6192	DIP2A	SO:0001583	missense	0			-	HGNC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.622G>T	21.37:g.47918713G>T	ENSP00000392066:p.Ala208Ser	Somatic	0	76	0		0.52429534266604	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A208S	ENST00000417564.2	37	c.622	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	0.425	-0.906438	0.02453	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.22134	1.99;1.99;2.03;2.0;1.99;1.99;1.97	4.98	3.97	0.46021	.	0.517985	0.18374	N	0.143175	T	0.11836	0.0288	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B	0.31548	0.004;0.003;0.328;0.002;0.002;0.01	B;B;B;B;B;B	0.27380	0.005;0.016;0.079;0.002;0.009;0.023	T	0.26883	-1.0090	10	0.05959	T	0.93	-4.6269	7.8494	0.29446	0.2119:0.0:0.7881:0.0	.	208;144;208;208;208;208	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	S	208;144;208;208;208;208;208;208	ENSP00000383133:A208S;ENSP00000400528:A144S;ENSP00000323633:A208S;ENSP00000393434:A208S;ENSP00000430249:A208S;ENSP00000415089:A208S;ENSP00000392066:A208S	ENSP00000323633:A208S	A	+	1	0	DIP2A	46743141	0.993000	0.37304	0.012000	0.15200	0.059000	0.15707	4.563000	0.60823	0.839000	0.34971	0.655000	0.94253	GCA	-	NULL		0.662	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	protein_coding	OTTHUMT00000376736.1	G	NM_015151	-		47918713	1	no_errors	ENST00000318711	ensembl	human	known	74_37	missense	SNP	0.155	T	T	47918713	G	T	47918713	3	4	196	1	0	0	0	0	1	0	0	0	4529	1319	46	3	640	3	DIP2A	21	47918713	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	214676	47918713	211182	2237	15509											
DIP2A	23181	genome.wustl.edu	37	chr21	47953932	47953932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaggttggcccccgctctCctggctagtgattgatggga	13	12	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47953932C>T	ENST00000417564.2	+	12	1466	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	DIP2A_ENST00000427143.2_Missense_Mutation_p.S418F|DIP2A_ENST00000318711.7_Missense_Mutation_p.S483F|DIP2A_ENST00000400274.1_Missense_Mutation_p.S478F|DIP2A_ENST00000457905.3_Missense_Mutation_p.S482F|DIP2A_ENST00000466639.1_Missense_Mutation_p.S439F|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000435722.3_Missense_Mutation_p.S482F			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	482					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCCCGCTCTCCTGGCTAGTG	0.587																																																	0								ENSG00000160305						29	31	31					21																	47953932		2045	4196	6241	DIP2A	SO:0001583	missense	0			-	HGNC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1445C>T	21.37:g.47953932C>T	ENSP00000392066:p.Ser482Phe	Somatic	0	37	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S483F	ENST00000417564.2	37	c.1448	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644441	0.29246	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.43294	0.95;0.97;0.95;0.97;0.97;0.97;0.95	5.0	3.0	0.34707	AMP-dependent synthetase/ligase (1);	0.948255	0.08867	N	0.882094	T	0.30634	0.0771	L	0.29908	0.895	0.18873	N	0.999984	B;B;B;B;B;B	0.28605	0.027;0.018;0.217;0.003;0.014;0.016	B;B;B;B;B;B	0.29440	0.094;0.102;0.043;0.063;0.01;0.031	T	0.27905	-1.0060	10	0.59425	D	0.04	-6.3754	5.4957	0.16802	0.2042:0.6642:0.0:0.1316	.	483;418;439;482;482;482	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	F	478;418;483;439;482;439;482;482	ENSP00000383133:S478F;ENSP00000400528:S418F;ENSP00000323633:S483F;ENSP00000393434:S482F;ENSP00000430249:S439F;ENSP00000415089:S482F;ENSP00000392066:S482F	ENSP00000323633:S483F	S	+	2	0	DIP2A	46778360	0.022000	0.18835	0.693000	0.30195	0.631000	0.37964	1.174000	0.31932	1.301000	0.44836	0.650000	0.86243	TCC	-	pfam_AMP-dep_Synth/Lig		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	protein_coding	OTTHUMT00000376736.1	C	NM_015151	-		47953932	1	no_errors	ENST00000318711	ensembl	human	known	74_37	missense	SNP	0.551	T	T	47953932	C	T	47953932	3	4	196	1	0	0	0	0	1	0	0	0	4529	855	30	2	1491	2	DIP2A	21	47953932	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	35219	47953932	175963	2238	15510											
OR11H1	81061	genome.wustl.edu	37	chr22	16449127	16449127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggatccaataataaagagGaagttaccaaaaataactaa	6	5	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:16449127G>A	ENST00000252835.4	-	1	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TAATAAAGAGGAAGTTACCAA	0.433																																																	0								ENSG00000130538						56	57	56					22																	16449127		2201	4293	6494	OR11H1	SO:0001819	synonymous_variant	0			-	HGNC	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"GPCR / Class A : Olfactory receptors"	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.678C>T	22.37:g.16449127G>A		Somatic	0	90	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	79	32.48	Q6IEX0|Q96R32	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F226	ENST00000252835.4	37	c.678	CCDS33594.1	22																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	protein_coding	OTTHUMT00000074923.2	G	NM_001005239	-		16449127	-1	no_errors	ENST00000252835	ensembl	human	known	74_37	silent	SNP	0.051	A	A	16449127	G	A	16449127	2	1	196	1	0	0	0	0	0	0	0	1	10928	1165	41	2		2	OR11H1	22	16449127	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		16449127	34855439	2239	15511											
CECR2	27443	genome.wustl.edu	37	chr22	17978523	17978523	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attggtatttctatggaacaCgaatgtacaaagaggacccg	10	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:17978523C>G	ENST00000400573.5	+	4	428	c.421C>G	c.(421-423)Cga>Gga	p.R141G	CECR2_ENST00000342247.5_Missense_Mutation_p.R121G|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.R122G			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	163					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)		CTATGGAACACGAATGTACAA	0.458																																																	0								ENSG00000099954						77	74	75					22																	17978523		1861	4103	5964	CECR2	SO:0001583	missense	0			-	HGNC	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	ENST00000400573.5:c.421C>G	22.37:g.17978523C>G	ENSP00000383417:p.Arg141Gly	Somatic	0	62	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	58	31.76	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP							pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R141G	ENST00000400573.5	37	c.421		22	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555987	0.86231	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.53857	0.6;0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.31071	U	0.008315	T	0.77558	0.4148	M	0.85630	2.765	0.51012	D	0.999906	D	0.89917	1.0	D	0.85130	0.997	T	0.80271	-0.1452	10	0.87932	D	0	-8.6768	19.9332	0.97128	0.0:1.0:0.0:0.0	.	163	Q9BXF3	CECR2_HUMAN	G	121;141;122	ENSP00000341219:R121G;ENSP00000383417:R141G;ENSP00000262608:R122G	ENSP00000262608:R122G	R	+	1	2	CECR2	16358523	0.997000	0.39634	0.988000	0.46212	0.997000	0.91878	3.630000	0.54273	2.702000	0.92279	0.655000	0.94253	CGA	-	NULL		0.458	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	protein_coding	OTTHUMT00000316104.5	C	NM_031413	-		17978523	1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	0.997	G	G	17978523	C	G	17978523	3	3	196	1	0	0	0	0	1	0	0	0	3208	528	19	4	373	4	CECR2	22	17978523	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1529396	17978523	33326043	2240	15512											
SEPT5	5413	genome.wustl.edu	37	chr22	19707965	19707965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctatacttcatctcccCcttcgggcatgggtgtgtgg	11	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:19707965C>T	ENST00000455784.2	+	6	610	c.485C>T	c.(484-486)cCc>cTc	p.P162L	SEPT5_ENST00000438754.2_Missense_Mutation_p.P171L|SEPT5_ENST00000406395.1_Missense_Mutation_p.P162L|SEPT5_ENST00000383045.3_Missense_Mutation_p.P171L|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	162	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTCATCTCCCCCTTCGGGCAT	0.597																																																	0								ENSG00000184702						104	100	101					22																	19707965		2203	4298	6501	SEPT5	SO:0001583	missense	0			-	HGNC	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.485C>T	22.37:g.19707965C>T	ENSP00000391311:p.Pro162Leu	Somatic	0	51	0		0.52429534266604	46	48.35	44	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	61	31.46	O15251|Q96MY5	Missense_Mutation	SNP							pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.P171L	ENST00000455784.2	37	c.512	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871921	0.91587	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	3.6	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90365	0.4376	10	0.87932	D	0	.	15.7839	0.78286	0.0:1.0:0.0:0.0	.	162	Q99719	SEPT5_HUMAN	L	162;162;133;115;200;171;171;115	ENSP00000391311:P162L;ENSP00000384535:P162L;ENSP00000408678:P115L;ENSP00000414488:P200L;ENSP00000372515:P171L;ENSP00000394541:P171L;ENSP00000378541:P115L	ENSP00000372515:P171L	P	+	2	0	SEPT5	18087965	1.000000	0.71417	0.861000	0.33841	0.953000	0.61014	7.541000	0.82084	2.010000	0.58986	0.313000	0.20887	CCC	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	protein_coding	OTTHUMT00000317937.1	C	NM_002688	-		19707965	1	no_errors	ENST00000383045	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19707965	C	T	19707965	3	4	196	1	0	0	0	0	1	0	0	0	14075	623	22	2	507	2	SEPT5	22	19707965	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1729442	19707965	31596601	2241	15513											
TXNRD2	10587	genome.wustl.edu	37	chr22	19907071	19907071	+	Missense_Mutation	SNP	G	G	A													tagggtgctgcctaccttggGgagaaggttccacgtagtcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:19907071G>A	ENST00000400521.1	-	3	230	c.224C>T	c.(223-225)cCc>cTc	p.P75L	TXNRD2_ENST00000542719.1_Missense_Mutation_p.P45L|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Missense_Mutation_p.P74L|TXNRD2_ENST00000400518.1_Missense_Mutation_p.P45L|TXNRD2_ENST00000334363.9_Missense_Mutation_p.P75L|TXNRD2_ENST00000535882.1_Missense_Mutation_p.P74L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	75					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCTACCTTGGGGAGAAGGTTC	0.627																																																	0								ENSG00000184470						25	29	28					22																	19907071		2058	4180	6238	TXNRD2	SO:0001583	missense	0			-	HGNC	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.224C>T	22.37:g.19907071G>A	ENSP00000383365:p.Pro75Leu	Somatic	0	81	0		0.52429534266604	30	11.76	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	82	33.33	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.P74L	ENST00000400521.1	37	c.221	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788835	0.49997	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.69561	-0.41;-0.33;-0.18;-0.32;-0.32;-0.41;1.07	3.96	2.94	0.34122	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.303220	0.32244	N	0.006377	T	0.63674	0.2531	M	0.67517	2.055	0.58432	D	0.999999	B;B;B;B	0.22276	0.041;0.067;0.055;0.041	B;B;B;B	0.25614	0.062;0.062;0.05;0.062	T	0.66528	-0.5901	10	0.72032	D	0.01	-0.5704	11.1772	0.48606	0.0946:0.0:0.9054:0.0	.	75;75;43;74	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	L	45;75;75;52;74;74;45;75	ENSP00000383362:P45L;ENSP00000383365:P75L;ENSP00000383369:P52L;ENSP00000383363:P74L;ENSP00000439314:P74L;ENSP00000439570:P45L;ENSP00000334451:P75L	ENSP00000334451:P75L	P	-	2	0	TXNRD2	18287071	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	5.456000	0.66665	1.247000	0.43917	0.557000	0.71058	CCC	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	protein_coding	OTTHUMT00000314903.3	G	NM_006440	-		19907071	-1	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	SNP	0.997	A	A	19907071	G	A	19907071	3	1	196	1	0	0	0	0	1	0	0	0	16815	1232	43	2	1410	2	TXNRD2	22	19907071	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	199106	19907071	31397495	2242	15514	381	2									
TXNRD2	10587	genome.wustl.edu	37	chr22	19907072	19907072	+	Missense_Mutation	SNP	G	G	A													agggtgctgcctaccttgggGagaaggttccacgtagtcca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:19907072G>A	ENST00000400521.1	-	3	229	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	TXNRD2_ENST00000542719.1_Missense_Mutation_p.P45S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Missense_Mutation_p.P74S|TXNRD2_ENST00000400518.1_Missense_Mutation_p.P45S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.P75S|TXNRD2_ENST00000535882.1_Missense_Mutation_p.P74S	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	75					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CTACCTTGGGGAGAAGGTTCC	0.627																																																	0								ENSG00000184470						25	29	28					22																	19907072		2058	4180	6238	TXNRD2	SO:0001583	missense	0			-	HGNC	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.223C>T	22.37:g.19907072G>A	ENSP00000383365:p.Pro75Ser	Somatic	0	80	0		0.52429534266604	30	11.76	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	80	33.88	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.P74S	ENST00000400521.1	37	c.220	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214574	0.58452	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.68479	-0.33;-0.25;-0.12;-0.24;-0.24;-0.33;1.13	3.96	3.96	0.45880	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.303220	0.32244	N	0.006377	T	0.67468	0.2896	L	0.58583	1.82	0.48135	D	0.999599	P;P;P;P	0.41748	0.655;0.761;0.527;0.655	B;B;B;B	0.43680	0.427;0.427;0.37;0.427	T	0.73279	-0.4033	10	0.59425	D	0.04	-0.5704	15.9753	0.80060	0.0:0.0:1.0:0.0	.	75;75;43;74	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	S	45;75;75;52;74;74;45;75	ENSP00000383362:P45S;ENSP00000383365:P75S;ENSP00000383369:P52S;ENSP00000383363:P74S;ENSP00000439314:P74S;ENSP00000439570:P45S;ENSP00000334451:P75S	ENSP00000334451:P75S	P	-	1	0	TXNRD2	18287072	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.071000	0.57556	2.492000	0.84095	0.557000	0.71058	CCC	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	protein_coding	OTTHUMT00000314903.3	G	NM_006440	-		19907072	-1	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	SNP	0.998	A	A	19907072	G	A	19907072	3	1	196	1	0	0	0	0	1	0	0	0	16815	1174	41	2	1411	2	TXNRD2	22	19907072	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	19907072	31397494	2243	15515	381	2									
DGCR8	54487	genome.wustl.edu	37	chr22	20077694	20077694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgacccggggcccccggacGagaaagacccactaggggct	14	15	0	3	rs200010909		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:20077694G>A	ENST00000351989.3	+	5	1648	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	DGCR8_ENST00000383024.2_Missense_Mutation_p.E407K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E407K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	407	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCCCCCGGACGAGAAAGACCC	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		15667	0		0	False		,,,				2504	0																0								ENSG00000128191						45	54	51					22																	20077694		2203	4300	6503	DGCR8	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1219G>A	22.37:g.20077694G>A	ENSP00000263209:p.Glu407Lys	Somatic	0	56	0		0.52429534266604	8	38.46	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP							pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.E407K	ENST00000351989.3	37	c.1219	CCDS13773.1	22	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.15	1.552654	0.27739	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.31510	1.5;1.49;1.49	5.14	4.13	0.48395	.	0.215692	0.47852	D	0.000212	T	0.14614	0.0353	N	0.22421	0.69	0.45390	D	0.998376	B;P	0.43352	0.022;0.804	B;B	0.22753	0.008;0.041	T	0.08269	-1.0730	10	0.17369	T	0.5	-16.6526	13.6158	0.62108	0.0756:0.0:0.9244:0.0	.	407;407	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	407	ENSP00000263209:E407K;ENSP00000372488:E407K;ENSP00000384726:E407K	ENSP00000263209:E407K	E	+	1	0	DGCR8	18457694	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.726000	0.68515	1.390000	0.46547	0.467000	0.42956	GAG	-	NULL		0.617	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	protein_coding	OTTHUMT00000318654.1	G		rs200010909		20077694	1	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20077694	G	A	20077694	3	1	196	1	0	0	0	0	1	0	0	0	4466	1059	37	1	1233	1	DGCR8	22	20077694	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	170622	20077694	31226872	2244	15516											
PI4KA	5297	genome.wustl.edu	37	chr22	21174081	21174081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacggagggaatgaggagGgattttgggaaagagctttg	18	3	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21174081G>A	ENST00000572273.1	-	6	693	c.463C>T	c.(463-465)Cct>Tct	p.P155S	PI4KA_ENST00000255882.6_Missense_Mutation_p.P213S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	155					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)			GAATGAGGAGGGATTTTGGGA	0.507																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						187	166	173					22																	21174081		2203	4300	6503	PI4KA	SO:0001583	missense	0			-	HGNC	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.463C>T	22.37:g.21174081G>A	ENSP00000458238:p.Pro155Ser	Somatic	0	76	0		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	51	28.17	Q7Z625|Q9UPG2	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P213S	ENST00000572273.1	37	c.637		22	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467169	0.26335	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.19	1.88	0.25563	.	0.523381	0.22498	N	0.059274	T	0.14917	0.0360	N	0.14661	0.345	0.28084	N	0.932083	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.17167	-1.0378	9	0.12103	T	0.63	-1.0367	2.3783	0.04347	0.2144:0.13:0.5214:0.1342	.	213;155	D3DX33;P42356	.;PI4KA_HUMAN	S	155	.	ENSP00000255882:P155S	P	-	1	0	PI4KA	19504081	0.964000	0.33143	0.491000	0.27477	0.824000	0.46624	1.514000	0.35834	0.328000	0.23435	-0.310000	0.09108	CCT	-	superfamily_ARM-type_fold		0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21174081	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	SNP	0.461	A	A	21174081	G	A	21174081	3	1	196	1	0	0	0	0	1	0	0	0	11875	1232	43	2	5871	2	PI4KA	22	21174081	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1096387	21174081	30130485	2245	15517											
PI4KA	5297	genome.wustl.edu	37	chr22	21188907	21188907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacttttggaagacctttgaGaagtcgaagaaggtaaggaa	12	5	0	3	rs575366622		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21188907G>A	ENST00000572273.1	-	3	366	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	PI4KA_ENST00000255882.6_Missense_Mutation_p.L104F			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	46					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)			AGACCTTTGAGAAGTCGAAGA	0.318													G|||	1	0.000199681	0	0	5008	,	,		20168	0		0	False		,,,				2504	0.001				GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						130	135	133					22																	21188907		2203	4300	6503	PI4KA	SO:0001583	missense	0			-	HGNC	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.136C>T	22.37:g.21188907G>A	ENSP00000458238:p.Leu46Phe	Somatic	0	135	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	150	22.68	Q7Z625|Q9UPG2	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L104F	ENST00000572273.1	37	c.310		22	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156522	0.38119	.	.	ENSG00000241973	ENST00000255882;ENST00000449120	T	0.55588	0.51	5.16	5.16	0.70880	.	0.076726	0.52532	D	0.000076	T	0.45776	0.1359	L	0.58428	1.81	0.80722	D	1	B;B	0.18610	0.029;0.004	B;B	0.23275	0.045;0.005	T	0.44937	-0.9295	10	0.39692	T	0.17	-23.4874	6.5827	0.22605	0.2109:0.0:0.7891:0.0	.	104;46	D3DX33;P42356	.;PI4KA_HUMAN	F	46	ENSP00000402437:L46F	ENSP00000255882:L46F	L	-	1	0	PI4KA	19518907	0.979000	0.34478	1.000000	0.80357	0.995000	0.86356	1.091000	0.30915	2.689000	0.91719	0.655000	0.94253	CTC	-	superfamily_ARM-type_fold		0.318	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21188907	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	SNP	0.997	A	A	21188907	G	A	21188907	3	1	196	1	0	0	0	0	1	0	0	0	11875	942	33	2	6210	2	PI4KA	22	21188907	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	14826	21188907	30115659	2246	15518											
SNAP29	9342	genome.wustl.edu	37	chr22	21224624	21224624	+	Splice_Site	SNP	G	G	A													actgcctctcggtttccccaGgagctcgcccgtcagcgagg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21224624G>A	ENST00000215730.7	+	2	365		c.e2-1			NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|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;0.000592)|Lung(15;0.0117)			GGTTTCCCCAGGAGCTCGCCC	0.537																																																	0								ENSG00000099940						76	70	72					22																	21224624		2203	4300	6503	SNAP29	SO:0001630	splice_region_variant	0			-	HGNC	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.238-1G>A	22.37:g.21224624G>A		Somatic	0	39	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	48	39.24		Splice_Site	SNP							-	e2-1	ENST00000215730.7	37	c.238-1	CCDS13784.1	22	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159827	0.57368	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5775	0.95450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAP29	19554624	1.000000	0.71417	0.985000	0.45067	0.227000	0.25037	9.776000	0.99001	2.625000	0.88918	0.591000	0.81541	.	-	-		0.537	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP29	protein_coding	OTTHUMT00000320000.4	G	NM_004782	-	Intron	21224624	1	no_errors	ENST00000215730	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	21224624	G	A	21224624	5	1	196	1	0	0	0	0	0	0	1	0	14839	1014	35	2	243	2	SNAP29	22	21224624	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	35717	21224624	30079942	2247	15519	382	2									
SNAP29	9342	genome.wustl.edu	37	chr22	21224625	21224625	+	Splice_Site	SNP	G	G	A													ctgcctctcggtttccccagGagctcgcccgtcagcgagga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21224625G>A	ENST00000215730.7	+	2	366	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	80					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|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;0.000592)|Lung(15;0.0117)			GTTTCCCCAGGAGCTCGCCCG	0.532																																																	0								ENSG00000099940						77	71	73					22																	21224625		2203	4300	6503	SNAP29	SO:0001630	splice_region_variant	0			-	HGNC	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.238-1G>A	22.37:g.21224625G>A		Somatic	0	39	0		0.52429534266604	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	48	39.24		Missense_Mutation	SNP							pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E80K	ENST00000215730.7	37	c.238	CCDS13784.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991613	0.93106	.	.	ENSG00000099940	ENST00000215730	T	0.76186	-1.0	5.58	5.58	0.84498	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87215	0.2250	9	.	.	.	-31.1718	19.5775	0.95450	0.0:0.0:1.0:0.0	.	80	O95721	SNP29_HUMAN	K	80	ENSP00000215730:E80K	.	E	+	1	0	SNAP29	19554625	1.000000	0.71417	0.983000	0.44433	0.230000	0.25150	9.776000	0.99001	2.625000	0.88918	0.591000	0.81541	GAG	-	smart_T_SNARE_dom		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP29	protein_coding	OTTHUMT00000320000.4	G	NM_004782	-	Missense_Mutation	21224625	1	no_errors	ENST00000215730	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21224625	G	A	21224625	5	1	196	1	0	0	0	0	0	0	1	0	14839	1188	41	2	244	2	SNAP29	22	21224625	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	21224625	30079941	2248	15520	382	2									
P2RX6	9127	genome.wustl.edu	37	chr22	21380901	21380901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacccattccgggagcCtgtagccgttccctgctggt	11	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21380901C>T	ENST00000413302.2	+	12	1469	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	P2RX6_ENST00000401443.1_Silent_p.L415L|P2RX6_ENST00000443995.3_Silent_p.L388L|P2RX6_ENST00000336296.2_Silent_p.L431L|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	441					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										TTCCGGGAGCCTGTAGCCGTT	0.637																																																	0								ENSG00000099957						30	26	27					22																	21380901		2199	4281	6480	P2RX6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1321C>T	22.37:g.21380901C>T		Somatic	1	123	0.81		0.52429534266604	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	98	31.47	F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP							pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.L441	ENST00000413302.2	37	c.1321	CCDS13788.2	22																																																																																			-	NULL		0.637	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	protein_coding	OTTHUMT00000319625.2	C	NM_005446	-		21380901	1	no_errors	ENST00000413302	ensembl	human	known	74_37	silent	SNP	0.000	T	T	21380901	C	T	21380901	2	4	196	1	0	0	0	0	0	0	0	1	11346	680	24	2		2	P2RX6	22	21380901	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	156276	21380901	29923665	2249	15521											
VPREB1	7441	genome.wustl.edu	37	chr22	22599580	22599580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccccctcgcttctctggatCcaaagatgtggccaggaaca	9	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:22599580C>T	ENST00000403807.3	+	2	408	c.269C>T	c.(268-270)tCc>tTc	p.S90F	VPREB1_ENST00000302273.2_Missense_Mutation_p.S89F			P12018	VPREB_HUMAN	pre-B lymphocyte 1	90	Framework-3.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TTCTCTGGATCCAAAGATGTG	0.592																																																	0								ENSG00000169575						42	48	46					22																	22599580		2203	4300	6503	VPREB1	SO:0001583	missense	0			-	HGNC	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.269C>T	22.37:g.22599580C>T	ENSP00000385361:p.Ser90Phe	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	B5MCG2	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S90F	ENST00000403807.3	37	c.269	CCDS13798.1	22	.	.	.	.	.	.	.	.	.	.	c	14.92	2.678769	0.47886	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.67345	-0.26;-0.26	3.91	2.8	0.32819	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.156056	0.30771	N	0.008914	T	0.75034	0.3795	M	0.90922	3.16	0.41583	D	0.988753	P	0.43938	0.822	P	0.46975	0.533	T	0.77928	-0.2404	10	0.72032	D	0.01	.	8.5509	0.33451	0.0:0.8663:0.0:0.1337	.	90	P12018	VPREB_HUMAN	F	90;89	ENSP00000385361:S90F;ENSP00000304590:S89F	ENSP00000304590:S89F	S	+	2	0	VPREB1	20929580	0.998000	0.40836	0.996000	0.52242	0.561000	0.35649	0.505000	0.22642	0.872000	0.35775	0.650000	0.86243	TCC	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.592	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPREB1	protein_coding	OTTHUMT00000321101.1	C		-		22599580	1	no_errors	ENST00000403807	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22599580	C	T	22599580	3	4	196	1	0	0	0	0	1	0	0	0	17193	855	30	2	275	2	VPREB1	22	22599580	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1218679	22599580	28704986	2250	15522											
SUSD2	56241	genome.wustl.edu	37	chr22	24581170	24581170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagtgccaggcctgggaGgagctggaggatcagctgcc	16	11	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:24581170G>A	ENST00000358321.3	+	6	1152	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	297	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGCCTGGGAGGAGCTGGAGG	0.677																																																	0								ENSG00000099994						28	28	28					22																	24581170		2203	4300	6503	SUSD2	SO:0001819	synonymous_variant	0			-	HGNC	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.891G>A	22.37:g.24581170G>A		Somatic	0	72	0		0.52429534266604	4	97.78	176	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	65	29.35	Q9H5Y6	Silent	SNP							pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.E297	ENST00000358321.3	37	c.891	CCDS13824.1	22																																																																																			-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.677	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	protein_coding	OTTHUMT00000320088.1	G	NM_019601	-		24581170	1	no_errors	ENST00000358321	ensembl	human	known	74_37	silent	SNP	0.755	A	A	24581170	G	A	24581170	2	1	196	1	0	0	0	0	0	0	0	1	15415	991	35	2		2	SUSD2	22	24581170	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1981590	24581170	26723396	2251	15523											
GGT5	2687	genome.wustl.edu	37	chr22	24622729	24622729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatagactctgttgagaagTtgaaccctggagagaggttg	13	7	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:24622729T>C	ENST00000327365.4	-	7	1324	c.908A>G	c.(907-909)aAc>aGc	p.N303S	GGT5_ENST00000418439.2_Missense_Mutation_p.N226S|GGT5_ENST00000263112.7_Missense_Mutation_p.N271S|GGT5_ENST00000398292.3_Missense_Mutation_p.N303S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	303					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGTTGAGAAGTTGAACCCTGG	0.567																																																	0								ENSG00000099998						127	113	118					22																	24622729		2203	4300	6503	GGT5	SO:0001583	missense	0			-	HGNC	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.908A>G	22.37:g.24622729T>C	ENSP00000330080:p.Asn303Ser	Somatic	0	69	0		0.52429534266604	70	49.64	69	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	69	36.11	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP							pfam_GGT_peptidase,prints_GGT_peptidase	p.N303S	ENST00000327365.4	37	c.908	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	T	8.760	0.923453	0.18056	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	3.19	3.19	0.36642	.	0.796207	0.11710	N	0.537000	T	0.37293	0.0998	L	0.55213	1.73	0.41678	D	0.989276	D;B;B;P;B	0.63046	0.992;0.216;0.437;0.599;0.437	D;B;B;B;B	0.64595	0.927;0.17;0.348;0.345;0.348	T	0.09465	-1.0673	10	0.51188	T	0.08	-31.7969	9.7882	0.40688	0.0:0.0:0.0:1.0	.	226;271;303;303;303	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	303;271;218;303;226	ENSP00000330080:N303S;ENSP00000263112:N271S;ENSP00000381340:N303S;ENSP00000392146:N226S	ENSP00000263112:N271S	N	-	2	0	GGT5	22952729	1.000000	0.71417	0.994000	0.49952	0.080000	0.17528	3.221000	0.51215	1.471000	0.48121	0.392000	0.25879	AAC	-	pfam_GGT_peptidase		0.567	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	protein_coding	OTTHUMT00000320119.1	T	NM_004121	-		24622729	-1	no_errors	ENST00000398292	ensembl	human	known	74_37	missense	SNP	1.000	C	C	24622729	T	C	24622729	3	2	196	1	0	0	0	0	1	0	0	0	6364	1725	60	5	879	5	GGT5	22	24622729	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	41559	24622729	26681837	2252	15524											
CYTSA	23384	genome.wustl.edu	37	chr22	24698213	24698213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagaatgaagaaagcaaGcaggagtgttggctcagtgc	14	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:24698213G>A	ENST00000314328.9	+	3	299	c.14G>A	c.(13-15)aGc>aAc	p.S5N	SPECC1L_ENST00000437398.1_Missense_Mutation_p.S5N|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S5N|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S5N	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	5					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGAAAGCAAGCAGGAGTGTT	0.438																																																	0								ENSG00000100014						78	71	73					22																	24698213		2203	4300	6503	SPECC1L	SO:0001583	missense	0			-	HGNC	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.14G>A	22.37:g.24698213G>A	ENSP00000325785:p.Ser5Asn	Somatic	0	78	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	61	34.74	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP							pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.S5N	ENST00000314328.9	37	c.14	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	.	18.56	3.651100	0.67472	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.62232	0.04;2.52;0.04;3.04	5.3	4.27	0.50696	.	0.577657	0.19372	N	0.115861	T	0.46171	0.1379	L	0.29908	0.895	0.31556	N	0.658168	P;P	0.40476	0.718;0.596	B;B	0.32864	0.154;0.074	T	0.55541	-0.8125	10	0.42905	T	0.14	-13.0795	12.4804	0.55839	0.0822:0.0:0.9178:0.0	.	5;5	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	N	33;5;5;5;5	ENSP00000393363:S5N;ENSP00000405671:S5N;ENSP00000325785:S5N;ENSP00000439633:S5N	ENSP00000325785:S5N	S	+	2	0	SPECC1L	23028213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.905000	0.39878	1.342000	0.45619	0.655000	0.94253	AGC	-	NULL		0.438	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	protein_coding	OTTHUMT00000319986.2	G	NM_015330	-		24698213	1	no_errors	ENST00000314328	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24698213	G	A	24698213	3	1	196	1	0	0	0	0	1	0	0	0	4211	971	34	2	16	2	CYTSA	22	24698213	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	75484	24698213	26606353	2253	15525											
SGSM1	129049	genome.wustl.edu	37	chr22	25251312	25251312	+	Missense_Mutation	SNP	C	C	T													agatcacttctggaccgatcCctcggctgacgaacttgtcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:25251312C>T	ENST00000400359.4	+	7	591	c.584C>T	c.(583-585)cCc>cTc	p.P195L	SGSM1_ENST00000400358.4_Missense_Mutation_p.P195L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	195						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGACCGATCCCTCGGCTGAC	0.632																																																	0								ENSG00000167037						31	34	33					22																	25251312		2084	4210	6294	SGSM1	SO:0001583	missense	0			-	HGNC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.584C>T	22.37:g.25251312C>T	ENSP00000383212:p.Pro195Leu	Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP							pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.P195L	ENST00000400359.4	37	c.584	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025124	0.75390	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.12774	2.65;2.65	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.998;0.994;1.0;0.998;0.981	T	0.36720	-0.9736	10	0.87932	D	0	-2.9356	16.2209	0.82257	0.0:1.0:0.0:0.0	.	195;170;328;195;170	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	L	170;195;195	ENSP00000383211:P195L;ENSP00000383212:P195L	ENSP00000383211:P195L	P	+	2	0	SGSM1	23581312	1.000000	0.71417	0.984000	0.44739	0.570000	0.35934	7.712000	0.84684	2.124000	0.65301	0.579000	0.79373	CCC	-	NULL		0.632	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	protein_coding	OTTHUMT00000320282.1	C	XM_059318	-		25251312	1	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25251312	C	T	25251312	3	4	196	1	0	0	0	0	1	0	0	0	14230	623	22	2	610	2	SGSM1	22	25251312	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	553099	25251312	26053254	2254	15526	383	2									
SGSM1	129049	genome.wustl.edu	37	chr22	25251313	25251313	+	Silent	SNP	C	C	T													gatcacttctggaccgatccCtcggctgacgaacttgtcca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:25251313C>T	ENST00000400359.4	+	7	592	c.585C>T	c.(583-585)ccC>ccT	p.P195P	SGSM1_ENST00000400358.4_Silent_p.P195P	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	195						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGACCGATCCCTCGGCTGACG	0.632																																																	0								ENSG00000167037						31	34	33					22																	25251313		2084	4213	6297	SGSM1	SO:0001819	synonymous_variant	0			-	HGNC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.585C>T	22.37:g.25251313C>T		Somatic	0	26	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP							pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.P195	ENST00000400359.4	37	c.585	CCDS46674.1	22																																																																																			-	NULL		0.632	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	protein_coding	OTTHUMT00000320282.1	C	XM_059318	-		25251313	1	no_errors	ENST00000400359	ensembl	human	known	74_37	silent	SNP	0.987	T	T	25251313	C	T	25251313	2	4	196	1	0	0	0	0	0	0	0	1	14230	668	24	2		2	SGSM1	22	25251313	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	25251313	26053253	2255	15527	383	2									
HPS4	89781	genome.wustl.edu	37	chr22	26861486	26861486	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttggtcacaaaaacaggGataatctggacattcggggg	12	7	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26861486G>A	ENST00000398145.2	-	10	1354	c.738C>T	c.(736-738)atC>atT	p.I246I	HPS4_ENST00000402105.3_Silent_p.I241I|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Silent_p.I259I|HPS4_ENST00000336873.5_Silent_p.I246I	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	246					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAAAACAGGGATAATCTGGA	0.517									Hermansky-Pudlak syndrome																																								0								ENSG00000100099						128	114	119					22																	26861486		2203	4300	6503	HPS4	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	-	HGNC		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.738C>T	22.37:g.26861486G>A		Somatic	0	30	0		0.52429534266604	12	29.41	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	46	26.98	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP							NULL	p.I259	ENST00000398145.2	37	c.777	CCDS13835.1	22																																																																																			-	NULL		0.517	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	protein_coding	OTTHUMT00000320778.1	G	NM_022081	-		26861486	-1	no_errors	ENST00000398141	ensembl	human	known	74_37	silent	SNP	0.469	A	A	26861486	G	A	26861486	2	1	196	1	0	0	0	0	0	0	0	1	7343	1164	41	2		2	HPS4	22	26861486	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1610173	26861486	24443080	2256	15528											
TFIP11	24144	genome.wustl.edu	37	chr22	26895474	26895474	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagccgggggccttggcctCtttgccagactgtggcagct	15	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26895474C>T	ENST00000407690.1	-	9	1208	c.925G>A	c.(925-927)Gag>Aag	p.E309K	TFIP11_ENST00000407431.1_Missense_Mutation_p.E309K|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Missense_Mutation_p.E309K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E309K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	309					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GCCTTGGCCTCTTTGCCAGAC	0.602																																																	0								ENSG00000100109						73	73	73					22																	26895474		2203	4300	6503	TFIP11	SO:0001583	missense	0			-	HGNC	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.925G>A	22.37:g.26895474C>T	ENSP00000384421:p.Glu309Lys	Somatic	0	28	0		0.52429534266604	42	28.81	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP							pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E309K	ENST00000407690.1	37	c.925	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758468	0.49468	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.26	4.17	0.49024	.	0.157076	0.56097	D	0.000029	T	0.30854	0.0778	L	0.33137	0.985	0.52501	D	0.999955	B	0.26635	0.155	B	0.24155	0.051	T	0.07385	-1.0775	10	0.17369	T	0.5	-45.4735	14.4038	0.67068	0.0:0.8517:0.1483:0.0	.	309	Q9UBB9	TFP11_HUMAN	K	309	ENSP00000384421:E309K;ENSP00000383892:E309K;ENSP00000385861:E309K;ENSP00000384297:E309K	ENSP00000384297:E309K	E	-	1	0	TFIP11	25225474	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	5.765000	0.68834	2.434000	0.82447	0.655000	0.94253	GAG	-	NULL		0.602	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	protein_coding	OTTHUMT00000320750.1	C	NM_001008697	-		26895474	-1	no_errors	ENST00000405938	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26895474	C	T	26895474	3	4	196	1	0	0	0	0	1	0	0	0	15814	922	32	2	1616	2	TFIP11	22	26895474	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	33988	26895474	24409092	2257	15529											
TPST2	8459	genome.wustl.edu	37	chr22	26937024	26937024	+	Silent	SNP	G	G	A													gtgactttgcgcgtgatcatGgagtgcacggaggcccggcc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26937024G>A	ENST00000338754.4	-	3	843	c.573C>T	c.(571-573)tcC>tcT	p.S191S	TPST2_ENST00000398110.2_Silent_p.S191S|TPST2_ENST00000403880.1_Silent_p.S191S	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	191					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCGTGATCATGGAGTGCACGG	0.597																																																	0								ENSG00000128294						95	77	83					22																	26937024		2203	4300	6503	TPST2	SO:0001819	synonymous_variant	0			-	HGNC	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.573C>T	22.37:g.26937024G>A		Somatic	0	60	0		0.52429534266604	89	50.56	91	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	67	38.53	B3KQA7|Q6FI98|Q9H0V4	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S191	ENST00000338754.4	37	c.573	CCDS13839.1	22																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	protein_coding	OTTHUMT00000320820.3	G	NM_003595	-		26937024	-1	no_errors	ENST00000338754	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26937024	G	A	26937024	2	1	196	1	0	0	0	0	0	0	0	1	16435	1335	47	2		2	TPST2	22	26937024	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	41550	26937024	24367542	2258	15530	384	2									
TPST2	8459	genome.wustl.edu	37	chr22	26937025	26937025	+	Missense_Mutation	SNP	G	G	A													tgactttgcgcgtgatcatgGagtgcacggaggcccggccg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26937025G>A	ENST00000338754.4	-	3	842	c.572C>T	c.(571-573)tCc>tTc	p.S191F	TPST2_ENST00000398110.2_Missense_Mutation_p.S191F|TPST2_ENST00000403880.1_Missense_Mutation_p.S191F	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	191					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGTGATCATGGAGTGCACGGA	0.597																																																	0								ENSG00000128294						94	76	82					22																	26937025		2203	4300	6503	TPST2	SO:0001583	missense	0			-	HGNC	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.572C>T	22.37:g.26937025G>A	ENSP00000339813:p.Ser191Phe	Somatic	0	61	0		0.52429534266604	90	50.55	92	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	67	38.53	B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S191F	ENST00000338754.4	37	c.572	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047599	0.75846	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868	T;T;T	0.80653	-1.4;-1.4;-1.4	5.01	5.01	0.66863	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.93096	0.7802	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95316	0.8416	10	0.87932	D	0	-39.202	17.3291	0.87258	0.0:0.0:1.0:0.0	.	191	O60704	TPST2_HUMAN	F	191;191;191;124	ENSP00000339813:S191F;ENSP00000381180:S191F;ENSP00000385192:S191F	ENSP00000339813:S191F	S	-	2	0	TPST2	25267025	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.119000	0.94362	2.327000	0.79052	0.609000	0.83330	TCC	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	protein_coding	OTTHUMT00000320820.3	G	NM_003595	-		26937025	-1	no_errors	ENST00000338754	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26937025	G	A	26937025	3	1	196	1	0	0	0	0	1	0	0	0	16435	1174	41	2	577	2	TPST2	22	26937025	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	26937025	24367541	2259	15531	384	2									
MN1	4330	genome.wustl.edu	37	chr22	28147004	28147004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccttggcgtcacccacgtCgtctgtgcagtggacagaca	12	13	2	1	rs370142548		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:28147004C>T	ENST00000302326.4	-	2	4816	c.3862G>A	c.(3862-3864)Gac>Aac	p.D1288N	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1288					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCACCCACGTCGTCTGTGCAG	0.602			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0								ENSG00000169184	C	ASN/ASP	0,4186		0,0,2093	68	76	73		3862	4.1	1	22		73	1,8427		0,1,4213	no	missense	MN1	NM_002430.2	23	0,1,6306	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	1288/1321	28147004	1,12613	2093	4214	6307	MN1	SO:0001583	missense	0			-	HGNC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3862G>A	22.37:g.28147004C>T	ENSP00000304956:p.Asp1288Asn	Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	A9Z1V9	Missense_Mutation	SNP							NULL	p.D1288N	ENST00000302326.4	37	c.3862	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165537	0.78339	0.0	1.19E-4	ENSG00000169184	ENST00000302326	T	0.48522	0.81	4.07	4.07	0.47477	.	0.078854	0.47852	D	0.000204	T	0.32406	0.0828	N	0.14661	0.345	0.35529	D	0.80208	P	0.38642	0.641	B	0.35607	0.206	T	0.53816	-0.8385	10	0.66056	D	0.02	-20.6181	16.1297	0.81418	0.0:1.0:0.0:0.0	.	1288	Q10571	MN1_HUMAN	N	1288	ENSP00000304956:D1288N	ENSP00000304956:D1288N	D	-	1	0	MN1	26477004	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.134000	0.77268	2.187000	0.69744	0.561000	0.74099	GAC	-	NULL		0.602	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	protein_coding	OTTHUMT00000320737.1	C	NM_002430	-		28147004	-1	no_errors	ENST00000302326	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28147004	C	T	28147004	3	4	196	1	0	0	0	0	1	0	0	0	9675	884	31	1	104	1	MN1	22	28147004	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1209979	28147004	23157562	2260	15532											
CHEK2	11200	genome.wustl.edu	37	chr22	29091738	29091738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaactccagcagtccacagCacggttatacccagcagtcc	7	15	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:29091738C>T	ENST00000405598.1	-	12	1410	c.1219G>A	c.(1219-1221)Gct>Act	p.A407T	CHEK2_ENST00000402731.1_Missense_Mutation_p.A378T|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.A316T|CHEK2_ENST00000403642.1_Missense_Mutation_p.A316T|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.A407T|CHEK2_ENST00000544772.1_Missense_Mutation_p.A186T|CHEK2_ENST00000348295.3_Missense_Mutation_p.A378T|CHEK2_ENST00000328354.6_Missense_Mutation_p.A407T|CHEK2_ENST00000382580.2_Missense_Mutation_p.A450T			O96017	CHK2_HUMAN	checkpoint kinase 2	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGTCCACAGCACGGTTATAC	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0								ENSG00000183765						40	40	40					22																	29091738		2203	4298	6501	CHEK2	SO:0001583	missense	0			-	HGNC	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1219G>A	22.37:g.29091738C>T	ENSP00000386087:p.Ala407Thr	Somatic	0	72	0		0.52429534266604	93	44.31	74	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	49	35.06	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.A450T	ENST00000405598.1	37	c.1348	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029326	0.75504	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.53423	0.94;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.94	5.73	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047167	0.85682	D	0.000000	T	0.59018	0.2163	L	0.46819	1.47	0.80722	D	1	D;P;D;D;P;P	0.71674	0.995;0.719;0.998;0.996;0.482;0.829	P;P;D;P;B;B	0.64776	0.748;0.48;0.929;0.858;0.141;0.389	T	0.57242	-0.7845	10	0.46703	T	0.11	-30.0349	14.6473	0.68769	0.1459:0.854:0.0:0.0	.	316;186;407;378;407;450	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	T	378;316;90;186;407;407;407;450;316;378	ENSP00000329012:A378T;ENSP00000372021:A316T;ENSP00000442458:A186T;ENSP00000329178:A407T;ENSP00000385747:A407T;ENSP00000386087:A407T;ENSP00000372023:A450T;ENSP00000384919:A316T;ENSP00000384835:A378T	ENSP00000329178:A407T	A	-	1	0	CHEK2	27421738	1.000000	0.71417	0.861000	0.33841	0.968000	0.65278	5.149000	0.64863	2.710000	0.92621	0.650000	0.86243	GCT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	protein_coding	OTTHUMT00000321150.1	C	NM_001005735	-		29091738	-1	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	SNP	0.995	T	T	29091738	C	T	29091738	3	4	196	1	0	0	0	0	1	0	0	0	3337	710	25	2	432	2	CHEK2	22	29091738	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	944734	29091738	22212828	2261	15533											
CHEK2	11200	genome.wustl.edu	37	chr22	29115390	29115390	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaataatttaccttccaaGagtttttgacatgatgtatt	6	5	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:29115390G>A	ENST00000405598.1	-	6	867	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	CHEK2_ENST00000402731.1_Missense_Mutation_p.L226F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.L135F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L135F|CHEK2_ENST00000382566.1_Missense_Mutation_p.L226F|CHEK2_ENST00000404276.1_Missense_Mutation_p.L226F|CHEK2_ENST00000544772.1_Missense_Mutation_p.L5F|CHEK2_ENST00000348295.3_Missense_Mutation_p.L226F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L226F|CHEK2_ENST00000382580.2_Missense_Mutation_p.L269F			O96017	CHK2_HUMAN	checkpoint kinase 2	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TACCTTCCAAGAGTTTTTGAC	0.289			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0								ENSG00000183765						34	36	35					22																	29115390		2183	4282	6465	CHEK2	SO:0001583	missense	0			-	HGNC	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.676C>T	22.37:g.29115390G>A	ENSP00000386087:p.Leu226Phe	Somatic	0	64	0		0.52429534266604	14	51.72	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	47	44.71	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.L269F	ENST00000405598.1	37	c.805	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681670	0.68042	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000425190;ENST00000439200	T;T;T;T;T;T;T;T;T;T;T;T	0.64991	0.14;-0.13;-0.13;0.09;-0.13;-0.13;-0.13;-0.13;-0.13;0.14;0.98;0.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056519	0.64402	D	0.000005	D	0.84759	0.5543	H	0.98295	4.195	0.53688	D	0.999972	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.998;1.0;1.0	D;D;D;D;D;D;D	0.78314	0.984;0.957;0.973;0.965;0.965;0.991;0.985	D	0.87538	0.2457	10	0.87932	D	0	-9.685	6.8264	0.23885	0.091:0.0:0.7321:0.1769	.	226;135;5;226;226;226;269	O96017-7;O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;.;CHK2_HUMAN;.	F	226;135;5;226;226;226;226;269;135;226;5;257	ENSP00000329012:L226F;ENSP00000372021:L135F;ENSP00000442458:L5F;ENSP00000372007:L226F;ENSP00000329178:L226F;ENSP00000385747:L226F;ENSP00000386087:L226F;ENSP00000372023:L269F;ENSP00000384919:L135F;ENSP00000384835:L226F;ENSP00000390244:L5F;ENSP00000408065:L257F	ENSP00000329178:L226F	L	-	1	0	CHEK2	27445390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.613000	0.46351	2.595000	0.87683	0.555000	0.69702	CTT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.289	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	protein_coding	OTTHUMT00000321150.1	G	NM_001005735	-		29115390	-1	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29115390	G	A	29115390	3	1	196	1	0	0	0	0	1	0	0	0	3337	942	33	2	999	2	CHEK2	22	29115390	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	23652	29115390	22189176	2262	15534											
MTMR3	8897	genome.wustl.edu	37	chr22	30418097	30418097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagattttctctgaagccaGctgggagcaggtggataaac	13	7	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30418097G>A	ENST00000401950.2	+	18	3647	c.3305G>A	c.(3304-3306)aGc>aAc	p.S1102N	MTMR3_ENST00000323630.5_Missense_Mutation_p.S966N|MTMR3_ENST00000406629.1_Intron|MTMR3_ENST00000333027.3_Intron|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Intron	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1102					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)			TCTGAAGCCAGCTGGGAGCAG	0.502																																																	0								ENSG00000100330						77	72	73					22																	30418097		2203	4300	6503	MTMR3	SO:0001583	missense	0			-	HGNC	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.3305G>A	22.37:g.30418097G>A	ENSP00000384651:p.Ser1102Asn	Somatic	0	58	0		0.52429534266604	9	47.06	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP							pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S1102N	ENST00000401950.2	37	c.3305	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721074	0.89205	.	.	ENSG00000100330	ENST00000401950;ENST00000323630	D;D	0.94537	-3.26;-3.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96137	0.9097	10	0.87932	D	0	.	18.1693	0.89740	0.0:0.0:1.0:0.0	.	1102	Q13615	MTMR3_HUMAN	N	1102;966	ENSP00000384651:S1102N;ENSP00000318070:S966N	ENSP00000318070:S966N	S	+	2	0	MTMR3	28748097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.253000	0.95501	2.767000	0.95098	0.655000	0.94253	AGC	-	NULL		0.502	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	protein_coding	OTTHUMT00000322066.1	G	NM_021090	-		30418097	1	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30418097	G	A	30418097	3	1	196	1	0	0	0	0	1	0	0	0	9947	971	34	2	3367	2	MTMR3	22	30418097	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1302707	30418097	20886469	2263	15535											
CCDC157	550631	genome.wustl.edu	37	chr22	30766813	30766813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagggcagaaggatggcCtgaggaagcaggcgggcaag	19	7	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30766813C>T	ENST00000405659.1	+	5	1628	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	CCDC157_ENST00000338306.3_Silent_p.L307L			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	307										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAAGGATGGCCTGAGGAAGCA	0.662																																																	0								ENSG00000187860						31	27	28					22																	30766813		2201	4300	6501	CCDC157	SO:0001819	synonymous_variant	0			-	HGNC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.919C>T	22.37:g.30766813C>T		Somatic	0	27	0		0.52429534266604	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	Q0VD76|Q9BYA4	Silent	SNP							superfamily_Prefoldin,superfamily_t-SNARE	p.L307	ENST00000405659.1	37	c.919	CCDS33632.2	22																																																																																			-	superfamily_t-SNARE		0.662	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	protein_coding	OTTHUMT00000320936.1	C	NM_001017437	-		30766813	1	no_errors	ENST00000338306	ensembl	human	known	74_37	silent	SNP	0.978	T	T	30766813	C	T	30766813	2	4	196	1	0	0	0	0	0	0	0	1	2791	680	24	2		2	CCDC157	22	30766813	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	348716	30766813	20537753	2264	15536											
CCDC157	550631	genome.wustl.edu	37	chr22	30769697	30769697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcccagcgggcccgcgtgGaggagcagctgcagagcgag	19	12	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30769697G>A	ENST00000405659.1	+	8	2156	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.E483K			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	483										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGCCCGCGTGGAGGAGCAGCT	0.677																																																	0								ENSG00000187860						13	16	15					22																	30769697		2165	4248	6413	CCDC157	SO:0001583	missense	0			-	HGNC	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1447G>A	22.37:g.30769697G>A	ENSP00000385357:p.Glu483Lys	Somatic	0	39	0		0.52429534266604	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41	Q0VD76|Q9BYA4	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_t-SNARE	p.E483K	ENST00000405659.1	37	c.1447	CCDS33632.2	22	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639677	0.47153	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.37915	1.17;1.17	4.28	3.22	0.36961	.	0.476775	0.22822	N	0.055218	T	0.28466	0.0704	L	0.56769	1.78	0.21290	N	0.999734	B	0.25955	0.138	B	0.21151	0.033	T	0.17653	-1.0362	10	0.08837	T	0.75	-19.9055	10.2678	0.43466	0.1597:0.0:0.8403:0.0	.	483	Q569K6	CC157_HUMAN	K	483	ENSP00000385357:E483K;ENSP00000343087:E483K	ENSP00000343087:E483K	E	+	1	0	CCDC157	29099697	0.964000	0.33143	0.982000	0.44146	0.222000	0.24845	2.550000	0.45811	2.217000	0.71921	0.561000	0.74099	GAG	-	NULL		0.677	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	protein_coding	OTTHUMT00000320936.1	G	NM_001017437	-		30769697	1	no_errors	ENST00000338306	ensembl	human	known	74_37	missense	SNP	0.213	A	A	30769697	G	A	30769697	3	1	196	1	0	0	0	0	1	0	0	0	2791	1175	41	2	1469	2	CCDC157	22	30769697	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2884	30769697	20534869	2265	15537											
SEC14L3	266629	genome.wustl.edu	37	chr22	30863008	30863008	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaggtttccagaagtgtttCagtcccaggccctcacagtc	10	12	2	2	rs142636401		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30863008C>T	ENST00000215812.4	-	6	570	c.480G>A	c.(478-480)ctG>ctA	p.L160L	SEC14L3_ENST00000403066.1_Silent_p.L101L|SEC14L3_ENST00000415957.2_Silent_p.L101L|SEC14L3_ENST00000539629.1_Silent_p.L101L|SEC14L3_ENST00000401751.1_Silent_p.L101L|SEC14L3_ENST00000540910.1_Silent_p.L83L|SEC14L3_ENST00000402286.1_Silent_p.L83L	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	160	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGAAGTGTTTCAGTCCCAGGC	0.512																																					Esophageal Squamous(108;290 1516 3584 23771 37333)												0								ENSG00000100012	C		1,4405	2.1+/-5.4	0,1,2202	154	133	140		480	3.6	1	22	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	SEC14L3	NM_174975.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		160/401	30863008	1,13005	2203	4300	6503	SEC14L3	SO:0001819	synonymous_variant	0			-	HGNC	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.480G>A	22.37:g.30863008C>T		Somatic	0	59	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	55	34.52	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L160	ENST00000215812.4	37	c.480	CCDS13877.1	22																																																																																			-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.512	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	protein_coding	OTTHUMT00000321950.4	C	NM_174975	rs142636401		30863008	-1	no_errors	ENST00000215812	ensembl	human	known	74_37	silent	SNP	1.000	T	T	30863008	C	T	30863008	2	4	196	1	0	0	0	0	0	0	0	1	13991	813	29	2		2	SEC14L3	22	30863008	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	93311	30863008	20441558	2266	15538											
C22orf30	253143	genome.wustl.edu	37	chr22	32109158	32109158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgcttttgtggggatgGgattggaagaactctttaaa	14	4	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32109158G>A	ENST00000327423.6	-	4	4856	c.4667C>T	c.(4666-4668)cCc>cTc	p.P1556L	PRR14L_ENST00000434485.1_Missense_Mutation_p.P1556L|PRR14L_ENST00000397493.2_Missense_Mutation_p.P1556L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1556										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TGTGGGGATGGGATTGGAAGA	0.418											OREG0003533	type=REGULATORY REGION|Gene=BC040859|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000183530						65	60	61					22																	32109158		692	1591	2283	PRR14L	SO:0001583	missense	0			-	HGNC	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.4667C>T	22.37:g.32109158G>A	ENSP00000331845:p.Pro1556Leu	Somatic	0	49	0	829	0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	61	12.68	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP							NULL	p.P1556L	ENST00000327423.6	37	c.4667	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	1.929	-0.446549	0.04572	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06933	3.24;3.26;3.24	5.38	4.37	0.52481	.	0.777028	0.11375	N	0.570434	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.40194	-0.9576	9	.	.	.	0.3037	7.768	0.28991	0.1953:0.0:0.8047:0.0	.	1556;1556;1556	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	1556	ENSP00000380630:P1556L;ENSP00000331845:P1556L;ENSP00000388314:P1556L	.	P	-	2	0	PRR14L	30439158	0.067000	0.21026	0.267000	0.24556	0.003000	0.03518	2.629000	0.46485	1.270000	0.44297	0.655000	0.94253	CCC	-	NULL		0.418	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	protein_coding	OTTHUMT00000074993.2	G	NM_173566	-		32109158	-1	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	SNP	0.009	A	A	32109158	G	A	32109158	3	1	196	1	0	0	0	0	1	0	0	0	2144	1232	43	2	1812	2	C22orf30	22	32109158	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1246150	32109158	19195408	2267	15539											
RFPL2	10739	genome.wustl.edu	37	chr22	32586917	32586917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgaatgtatagacatGggaaccactttcagcatcaa	8	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32586917G>A	ENST00000400237.1	-	5	1914	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	RFPL2_ENST00000248980.4_Missense_Mutation_p.H266Y|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.H237Y|RFPL2_ENST00000400236.3_Missense_Mutation_p.H237Y			O75678	RFPL2_HUMAN	ret finger protein-like 2	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTATAGACATGGGAACCACTT	0.478																																																	0								ENSG00000128253						62	75	70					22																	32586917		2203	4300	6503	RFPL2	SO:0001583	missense	0			-	HGNC	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.979C>T	22.37:g.32586917G>A	ENSP00000383096:p.His327Tyr	Somatic	0	84	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	97	24.81		Missense_Mutation	SNP							pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.H327Y	ENST00000400237.1	37	c.979	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327809	0.24080	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	0.351	0.351	0.16042	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78355	0.4270	M	0.92219	3.285	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.63453	-0.6634	9	0.59425	D	0.04	.	2.7657	0.05319	0.4108:0.0:0.5892:0.0	.	327;266	O75678;O75678-3	RFPL2_HUMAN;.	Y	266;237;237;327	ENSP00000248980:H266Y;ENSP00000248983:H237Y;ENSP00000383095:H237Y;ENSP00000383096:H327Y	ENSP00000248980:H266Y	H	-	1	0	RFPL2	30916917	0.386000	0.25180	0.031000	0.17742	0.032000	0.12392	3.378000	0.52432	0.399000	0.25367	0.404000	0.27445	CAT	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.478	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	protein_coding	OTTHUMT00000075262.2	G	NM_006605	-		32586917	-1	no_errors	ENST00000400237	ensembl	human	known	74_37	missense	SNP	0.300	A	A	32586917	G	A	32586917	3	1	196	1	0	0	0	0	1	0	0	0	13262	1348	47	2	161	2	RFPL2	22	32586917	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	477759	32586917	18717649	2268	15540											
RFPL3	10738	genome.wustl.edu	37	chr22	32754117	32754117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcaaggaaattttcttcCcttgtgtacttttcccctgg	6	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32754117C>T	ENST00000249007.4	+	1	264	c.59C>T	c.(58-60)cCc>cTc	p.P20L	RFPL3_ENST00000382088.3_5'Flank|RFPL3_ENST00000397468.1_Intron|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	20							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AATTTTCTTCCCTTGTGTACT	0.468																																																	0								ENSG00000128276						110	108	109					22																	32754117		2203	4300	6503	RFPL3	SO:0001583	missense	0			-	HGNC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.59C>T	22.37:g.32754117C>T	ENSP00000249007:p.Pro20Leu	Somatic	0	109	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	126	28.41	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP							pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.P20L	ENST00000249007.4	37	c.59	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	2.612	-0.290651	0.05568	.	.	ENSG00000128276	ENST00000249007	T	0.51325	0.71	0.784	-1.43	0.08884	.	.	.	.	.	T	0.30039	0.0752	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22452	-1.0216	9	0.66056	D	0.02	.	3.6526	0.08209	0.0:0.5076:0.0:0.4924	.	20	O75679	RFPL3_HUMAN	L	20	ENSP00000249007:P20L	ENSP00000249007:P20L	P	+	2	0	RFPL3	31084117	0.008000	0.16893	0.000000	0.03702	0.135000	0.20990	0.586000	0.23894	-0.520000	0.06435	0.194000	0.17425	CCC	-	NULL		0.468	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	protein_coding	OTTHUMT00000075172.3	C	NM_006604	-		32754117	1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	SNP	0.001	T	T	32754117	C	T	32754117	3	4	196	1	0	0	0	0	1	0	0	0	13263	623	22	2	61	2	RFPL3	22	32754117	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	167200	32754117	18550449	2269	15541											
RFPL3	10738	genome.wustl.edu	37	chr22	32756661	32756661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgctgaaagtggttccCatgtctatacattcaggagc	10	8	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32756661C>T	ENST00000249007.4	+	2	1001	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.H237Y|RFPL3_ENST00000397468.1_Missense_Mutation_p.H237Y|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	266	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AAGTGGTTCCCATGTCTATAC	0.478																																																	0								ENSG00000128276						102	88	93					22																	32756661		2203	4300	6503	RFPL3	SO:0001583	missense	0			-	HGNC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.796C>T	22.37:g.32756661C>T	ENSP00000249007:p.His266Tyr	Somatic	0	113	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	143	10.62	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP							pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.H266Y	ENST00000249007.4	37	c.796	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422412	0.43020	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.63417	-0.04;-0.04;-0.04	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.81269	0.4787	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81378	-0.0960	9	0.59425	D	0.04	.	8.6203	0.33857	0.0:1.0:0.0:0.0	.	266	O75679	RFPL3_HUMAN	Y	237;266;237	ENSP00000380609:H237Y;ENSP00000249007:H266Y;ENSP00000371520:H237Y	ENSP00000249007:H266Y	H	+	1	0	RFPL3	31086661	0.186000	0.23225	0.015000	0.15790	0.040000	0.13550	1.485000	0.35519	0.630000	0.30394	0.205000	0.17691	CAT	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	protein_coding	OTTHUMT00000075172.3	C	NM_006604	-		32756661	1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	SNP	0.964	T	T	32756661	C	T	32756661	3	4	196	1	0	0	0	0	1	0	0	0	13263	594	21	2	802	2	RFPL3	22	32756661	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2544	32756661	18547905	2270	15542											
APOL5	80831	genome.wustl.edu	37	chr22	36123190	36123190	+	Missense_Mutation	SNP	T	T	C													agaaggcgagccagacctgtTccagctcccggggcagggct							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36123190T>C	ENST00000249044.2	+	3	1075	c.1075T>C	c.(1075-1077)Tcc>Ccc	p.S359P		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	359					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CCAGACCTGTTCCAGCTCCCG	0.592																																																	0								ENSG00000128313						33	38	36					22																	36123190		2200	4287	6487	APOL5	SO:0001583	missense	0			-	HGNC	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1075T>C	22.37:g.36123190T>C	ENSP00000249044:p.Ser359Pro	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	36	30.77	Q5TFL9|Q9UGW5	Missense_Mutation	SNP							pfam_ApoL	p.S359P	ENST00000249044.2	37	c.1075	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901973	0.17760	.	.	ENSG00000128313	ENST00000249044	T	0.04706	3.57	1.98	-0.902	0.10537	.	59.848300	0.00783	N	0.001287	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	10	0.66056	D	0.02	.	2.6785	0.05087	0.2728:0.5308:0.0:0.1965	.	359	Q9BWW9	APOL5_HUMAN	P	359	ENSP00000249044:S359P	ENSP00000249044:S359P	S	+	1	0	APOL5	34453136	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	-0.193000	0.09573	-0.319000	0.08652	-0.385000	0.06624	TCC	-	NULL		0.592	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	protein_coding	OTTHUMT00000318979.1	T	NM_030642	-		36123190	1	no_errors	ENST00000249044	ensembl	human	known	74_37	missense	SNP	0.001	C	C	36123190	T	C	36123190	3	2	196	1	0	0	0	0	1	0	0	0	809	1783	62	5	1085	5	APOL5	22	36123190	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3366529	36123190	15181376	2271	15543	385	2									
APOL5	80831	genome.wustl.edu	37	chr22	36123192	36123192	+	Silent	SNP	C	C	T													aaggcgagccagacctgttcCagctcccggggcagggctgt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36123192C>T	ENST00000249044.2	+	3	1077	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	359					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGACCTGTTCCAGCTCCCGGG	0.587																																																	0								ENSG00000128313						34	39	37					22																	36123192		2199	4287	6486	APOL5	SO:0001819	synonymous_variant	0			-	HGNC	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1077C>T	22.37:g.36123192C>T		Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	36	30.77	Q5TFL9|Q9UGW5	Silent	SNP							pfam_ApoL	p.S359	ENST00000249044.2	37	c.1077	CCDS13920.1	22																																																																																			-	NULL		0.587	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	protein_coding	OTTHUMT00000318979.1	C	NM_030642	-		36123192	1	no_errors	ENST00000249044	ensembl	human	known	74_37	silent	SNP	0.002	T	T	36123192	C	T	36123192	2	4	196	1	0	0	0	0	0	0	0	1	809	581	21	2		2	APOL5	22	36123192	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2	36123192	15181374	2272	15544	385	2									
APOL4	80832	genome.wustl.edu	37	chr22	36587954	36587954	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcatagagagcatctgcctCttccctgtaccaataaagga	7	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36587954C>T	ENST00000405511.1	-	6	636	c.214G>A	c.(214-216)Gag>Aag	p.E72K	APOL4_ENST00000429038.2_Missense_Mutation_p.E72K|APOL4_ENST00000332987.1_Missense_Mutation_p.E72K|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_Missense_Mutation_p.E75K|APOL4_ENST00000352371.1_Missense_Mutation_p.E75K	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	75					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						GCATCTGCCTCTTCCCTGTAC	0.398																																																	0								ENSG00000100336						67	66	67					22																	36587954		2028	4198	6226	APOL4	SO:0001583	missense	0			-	HGNC	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"Apolipoproteins"	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000405511.1:c.214G>A	22.37:g.36587954C>T	ENSP00000384011:p.Glu72Lys	Somatic	0	49	0		0.52429534266604	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	44	45.78	Q9BQ37|Q9BXQ8	Missense_Mutation	SNP							pfam_ApoL	p.E75K	ENST00000405511.1	37	c.223		22	.	.	.	.	.	.	.	.	.	.	c	15.45	2.838326	0.51057	.	.	ENSG00000100336	ENST00000404685;ENST00000405511;ENST00000429038;ENST00000352371;ENST00000332987;ENST00000457630	T;T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69;3.69	2.27	2.27	0.28462	.	0.420710	0.24523	N	0.037790	T	0.14399	0.0348	.	.	.	0.23893	N	0.996545	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.966	T	0.01015	-1.1480	9	0.59425	D	0.04	.	8.1108	0.30914	0.0:1.0:0.0:0.0	.	75;72	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	K	75;72;72;75;72;72	ENSP00000385119:E75K;ENSP00000384011:E72K;ENSP00000404366:E72K;ENSP00000338260:E75K;ENSP00000333229:E72K;ENSP00000409085:E72K	ENSP00000333229:E72K	E	-	1	0	APOL4	34917900	0.009000	0.17119	0.020000	0.16555	0.008000	0.06430	0.865000	0.27940	1.583000	0.49898	0.462000	0.41574	GAG	-	pfam_ApoL		0.398	APOL4-002	PUTATIVE	basic	protein_coding	APOL4	protein_coding	OTTHUMT00000319256.2	C	NM_145660	-		36587954	-1	no_errors	ENST00000352371	ensembl	human	known	74_37	missense	SNP	0.023	T	T	36587954	C	T	36587954	3	4	196	1	0	0	0	0	1	0	0	0	808	922	32	2	834	2	APOL4	22	36587954	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	464762	36587954	14716612	2273	15545											
FOXRED2	80020	genome.wustl.edu	37	chr22	36900239	36900239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcattgtcgtcctgggGgagggtgatggagtcggcac	18	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36900239G>A	ENST00000397224.4	-	4	1048	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P319S|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P319S	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	319					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCGTCCTGGGGGAGGGTGATG	0.532																																																	0								ENSG00000100350						98	79	85					22																	36900239		2203	4300	6503	FOXRED2	SO:0001583	missense	0			-	HGNC	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.955C>T	22.37:g.36900239G>A	ENSP00000380401:p.Pro319Ser	Somatic	0	61	0		0.52429534266604	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	43	40.28	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.P319S	ENST00000397224.4	37	c.955	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336468	0.60963	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.14144	2.53;2.53;2.53	5.01	5.01	0.66863	.	0.154016	0.64402	D	0.000018	T	0.17746	0.0426	M	0.63843	1.955	0.58432	D	0.999999	P	0.36438	0.553	B	0.32928	0.155	T	0.02539	-1.1144	10	0.40728	T	0.16	-42.8467	18.5148	0.90931	0.0:0.0:1.0:0.0	.	319	Q8IWF2	FXRD2_HUMAN	S	319	ENSP00000380401:P319S;ENSP00000216187:P319S;ENSP00000380400:P319S	ENSP00000216187:P319S	P	-	1	0	FOXRED2	35230185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.990000	0.56965	2.606000	0.88127	0.655000	0.94253	CCC	-	NULL		0.532	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	protein_coding	OTTHUMT00000104098.2	G	NM_024955	-		36900239	-1	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36900239	G	A	36900239	3	1	196	1	0	0	0	0	1	0	0	0	6036	1232	43	2	1123	2	FOXRED2	22	36900239	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	312285	36900239	14404327	2274	15546											
TST	7263	genome.wustl.edu	37	chr22	37414344	37414344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggttctgggcgtgagggctCggatgtcaccgggtggccct	18	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:37414344C>T	ENST00000403892.3	-	1	1164	c.430G>A	c.(430-432)Gag>Aag	p.E144K	TST_ENST00000249042.3_Missense_Mutation_p.E144K|MPST_ENST00000397129.1_5'Flank|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000404802.3_5'Flank|MPST_ENST00000404393.1_5'Flank|MPST_ENST00000429360.2_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	144	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGTGAGGGCTCGGATGTCACC	0.602																																																	0								ENSG00000128311						77	67	71					22																	37414344		2203	4300	6503	TST	SO:0001583	missense	0			-	HGNC	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.430G>A	22.37:g.37414344C>T	ENSP00000385828:p.Glu144Lys	Somatic	0	55	0		0.52429534266604	105	35.58	58	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	55	33.73	B3KRM1|Q6IB06	Missense_Mutation	SNP							pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E144K	ENST00000403892.3	37	c.430	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443529	0.43429	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.45276	0.9;0.9	5.09	5.09	0.68999	Rhodanese-like (2);	0.158402	0.53938	D	0.000041	T	0.43100	0.1232	M	0.61703	1.905	0.58432	D	0.999995	B	0.28324	0.207	B	0.20384	0.029	T	0.36939	-0.9727	10	0.41790	T	0.15	-20.005	18.5155	0.90934	0.0:1.0:0.0:0.0	.	144	Q16762	THTR_HUMAN	K	144	ENSP00000385828:E144K;ENSP00000249042:E144K	ENSP00000249042:E144K	E	-	1	0	TST	35744290	0.973000	0.33851	0.840000	0.33206	0.971000	0.66376	2.712000	0.47186	2.355000	0.79922	0.561000	0.74099	GAG	-	superfamily_Rhodanese-like_dom		0.602	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	protein_coding	OTTHUMT00000318790.1	C		-		37414344	-1	no_errors	ENST00000249042	ensembl	human	known	74_37	missense	SNP	0.988	T	T	37414344	C	T	37414344	3	4	196	1	0	0	0	0	1	0	0	0	16680	893	31	1	471	1	TST	22	37414344	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	514105	37414344	13890222	2275	15547											
TMPRSS6	164656	genome.wustl.edu	37	chr22	37466603	37466603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacagatgtgtcgaccccGaacctggaggctggcctgcc	12	16	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:37466603G>A	ENST00000346753.3	-	15	1905	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R588W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R588W|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R588W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	597	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGTCGACCCCGAACCTGGAGG	0.672																																																	0								ENSG00000187045						45	47	47					22																	37466603		2203	4300	6503	TMPRSS6	SO:0001583	missense	0			-	HGNC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1789C>T	22.37:g.37466603G>A	ENSP00000334962:p.Arg597Trp	Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP							pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.R588W	ENST00000346753.3	37	c.1762	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227525	0.79576	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.44	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.286466	0.29389	N	0.012282	D	0.95452	0.8523	L	0.58669	1.825	0.41315	D	0.987133	D;D	0.89917	1.0;1.0	D;D	0.74674	0.967;0.984	D	0.95969	0.8968	10	0.72032	D	0.01	.	15.6195	0.76796	0.0:0.0:0.7383:0.2616	.	588;597	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	W	588;597;588;588	ENSP00000371211:R588W;ENSP00000334962:R597W;ENSP00000385453:R588W;ENSP00000384964:R588W	ENSP00000334962:R597W	R	-	1	2	TMPRSS6	35796549	0.993000	0.37304	0.913000	0.36048	0.995000	0.86356	3.960000	0.56752	1.241000	0.43820	0.591000	0.81541	CGG	-	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.672	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	protein_coding	OTTHUMT00000318822.1	G	NM_153609	-		37466603	-1	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	SNP	0.729	A	A	37466603	G	A	37466603	3	1	196	1	0	0	0	0	1	0	0	0	16258	1057	37	1	662	1	TMPRSS6	22	37466603	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	52259	37466603	13837963	2276	15548											
IL2RB	3560	genome.wustl.edu	37	chr22	37524587	37524587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggttggggggaagacCctgtgggtgccccggccaca	19	11	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:37524587C>T	ENST00000216223.5	-	10	1403	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	402					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGAAGACCCTGTGGGTGC	0.627																																																	0								ENSG00000100385						40	43	42					22																	37524587		2203	4300	6503	IL2RB	SO:0001583	missense	0			-	HGNC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1205G>A	22.37:g.37524587C>T	ENSP00000216223:p.Gly402Glu	Somatic	0	35	0		0.52429534266604	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	B2R765	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G402E	ENST00000216223.5	37	c.1205	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630722	0.28978	.	.	ENSG00000100385	ENST00000216223	T	0.10668	2.85	4.49	3.46	0.39613	.	5.698050	0.00582	N	0.000333	T	0.14743	0.0356	L	0.50333	1.59	0.09310	N	1	P	0.40211	0.707	B	0.38655	0.278	T	0.38520	-0.9657	10	0.19147	T	0.46	-13.2509	11.7451	0.51815	0.1762:0.8238:0.0:0.0	.	402	P14784	IL2RB_HUMAN	E	402	ENSP00000216223:G402E	ENSP00000216223:G402E	G	-	2	0	IL2RB	35854533	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.187000	0.16998	1.208000	0.43306	0.655000	0.94253	GGG	-	NULL		0.627	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	protein_coding	OTTHUMT00000318792.1	C		-		37524587	-1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	SNP	0.006	T	T	37524587	C	T	37524587	3	4	196	1	0	0	0	0	1	0	0	0	7689	623	22	2	454	2	IL2RB	22	37524587	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	57984	37524587	13779979	2277	15549											
GCAT	23464	genome.wustl.edu	37	chr22	38203986	38203986	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaggagcgatgtggcctggGaacgcctggcgcgccgcact	17	12	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:38203986G>A	ENST00000248924.6	+	1	68	c.12G>A	c.(10-12)ggG>ggA	p.G4G	GCAT_ENST00000323205.6_Silent_p.G4G|GCAT_ENST00000415371.1_3'UTR	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	4					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGTGGCCTGGGAACGCCTGGC	0.756																																																	0								ENSG00000100116						6	6	6					22																	38203986		2014	3904	5918	GCAT	SO:0001819	synonymous_variant	0			-	HGNC	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.12G>A	22.37:g.38203986G>A		Somatic	0	17	0		0.52429534266604	15	53.12	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	E2QC23|Q6ZWF1|Q96CA9	Silent	SNP							pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase	p.G4	ENST00000248924.6	37	c.12	CCDS13957.1	22																																																																																			-	NULL		0.756	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2	-		38203986	1	no_errors	ENST00000248924	ensembl	human	known	74_37	silent	SNP	0.000	A	A	38203986	G	A	38203986	2	1	196	1	0	0	0	0	0	0	0	1	6286	1161	41	2		2	GCAT	22	38203986	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	679399	38203986	13100580	2278	15550											
NPTXR	23467	genome.wustl.edu	37	chr22	39219093	39219093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcctgagccttacctgctCctggcccaagataaggatcc	9	15	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:39219093C>T	ENST00000333039.2	-	4	1396	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	425	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTTACCTGCTCCTGGCCCAAG	0.592																																					Pancreas(139;2521 3281 36965)												0								ENSG00000221890						66	58	61					22																	39219093		2203	4300	6503	NPTXR	SO:0001583	missense	0			-	HGNC	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1273G>A	22.37:g.39219093C>T	ENSP00000327545:p.Glu425Lys	Somatic	0	29	0		0.52429534266604	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39		Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.E425K	ENST00000333039.2	37	c.1273	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	c	32	5.115083	0.94339	.	.	ENSG00000221890	ENST00000333039	T	0.10005	2.92	3.98	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.058198	0.64402	D	0.000003	T	0.44095	0.1277	M	0.93720	3.45	0.38891	D	0.957115	D	0.76494	0.999	D	0.83275	0.996	T	0.65627	-0.6122	9	0.87932	D	0	-43.2745	16.6227	0.84934	0.0:1.0:0.0:0.0	.	425	O95502	NPTXR_HUMAN	K	425	ENSP00000327545:E425K	ENSP00000327545:E425K	E	-	1	0	NPTXR	37549039	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.642000	0.83385	2.204000	0.70986	0.558000	0.71614	GAG	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.592	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	protein_coding	OTTHUMT00000318194.2	C	NM_014293	-		39219093	-1	no_errors	ENST00000333039	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39219093	C	T	39219093	3	4	196	1	0	0	0	0	1	0	0	0	10606	864	30	2	237	2	NPTXR	22	39219093	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1015107	39219093	12085473	2279	15551											
SMCR7L	54471	genome.wustl.edu	37	chr22	39909964	39909964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggctgagcctgcgtcCcgcggagacggcacgcctgc	17	15	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:39909964C>T	ENST00000325301.2	+	6	1452	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	MIEF1_ENST00000404569.1_Missense_Mutation_p.P343L|MIEF1_ENST00000402881.1_Missense_Mutation_p.P343L	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	343					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										AGCCTGCGTCCCGCGGAGACG	0.627											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100335						56	55	56					22																	39909964		2203	4300	6503	MIEF1	SO:0001583	missense	0			-	HGNC	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1028C>T	22.37:g.39909964C>T	ENSP00000327124:p.Pro343Leu	Somatic	0	48	0	889	0.52429534266604	11	35.29	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	40	37.50	Q7L890|Q9BUI3	Missense_Mutation	SNP							NULL	p.P343L	ENST00000325301.2	37	c.1028	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857674	0.32791	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.06849	3.25;3.25;3.25	6.07	6.07	0.98685	.	0.156902	0.64402	D	0.000018	T	0.07908	0.0198	L	0.34521	1.04	0.53688	D	0.999974	B;P	0.39352	0.042;0.669	B;B	0.34931	0.038;0.192	T	0.35549	-0.9784	10	0.29301	T	0.29	-15.8867	16.051	0.80763	0.0:0.8667:0.1333:0.0	.	343;343	Q9NQG6;B0QY95	MID51_HUMAN;.	L	343	ENSP00000385110:P343L;ENSP00000327124:P343L;ENSP00000385191:P343L	ENSP00000327124:P343L	P	+	2	0	SMCR7L	38239910	1.000000	0.71417	0.984000	0.44739	0.917000	0.54804	4.747000	0.62141	2.884000	0.98904	0.655000	0.94253	CCC	-	NULL		0.627	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	protein_coding	OTTHUMT00000321325.1	C	NM_019008	-		39909964	1	no_errors	ENST00000325301	ensembl	human	known	74_37	missense	SNP	0.995	T	T	39909964	C	T	39909964	3	4	196	1	0	0	0	0	1	0	0	0	14799	623	22	2	1042	2	SMCR7L	22	39909964	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	690871	39909964	11394602	2280	15552											
CACNA1I	8911	genome.wustl.edu	37	chr22	40073417	40073417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggggtggagctctttggGaagctgggtgagtgactccc	17	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:40073417G>A	ENST00000402142.3	+	30	4926	c.4926G>A	c.(4924-4926)ggG>ggA	p.G1642G	CACNA1I_ENST00000400164.3_Silent_p.G1607G|CACNA1I_ENST00000407673.1_Silent_p.G1607G|CACNA1I_ENST00000404898.1_Silent_p.G1607G|CACNA1I_ENST00000336649.4_Silent_p.G1648G|CACNA1I_ENST00000401624.1_Silent_p.G1642G	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1642					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCTCTTTGGGAAGCTGGGTG	0.677																																																	0								ENSG00000100346						21	21	21					22																	40073417		1919	4111	6030	CACNA1I	SO:0001819	synonymous_variant	0			-	HGNC	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4926G>A	22.37:g.40073417G>A		Somatic	0	14	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G1648	ENST00000402142.3	37	c.4944	CCDS46710.1	22																																																																																			-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.677	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	G	NM_001003406	-		40073417	1	no_errors	ENST00000336649	ensembl	human	known	74_37	silent	SNP	1.000	A	A	40073417	G	A	40073417	2	1	196	1	0	0	0	0	0	0	0	1	2548	1161	41	2		2	CACNA1I	22	40073417	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	163453	40073417	11231149	2281	15553											
CACNA1I	8911	genome.wustl.edu	37	chr22	40075778	40075778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaaggactccttggagGgggagctgaccatcatcgac	12	11	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:40075778G>A	ENST00000402142.3	+	33	5446	c.5446G>A	c.(5446-5448)Ggg>Agg	p.G1816R	CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1781R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1781R|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1781R|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G1822R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1816R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1816					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCTTGGAGGGGGAGCTGAC	0.592																																																	0								ENSG00000100346						45	50	48					22																	40075778		1992	4172	6164	CACNA1I	SO:0001583	missense	0			-	HGNC	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5446G>A	22.37:g.40075778G>A	ENSP00000385019:p.Gly1816Arg	Somatic	0	53	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	50	31.51	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G1822R	ENST00000402142.3	37	c.5464	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479902	0.63849	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.99176	-5.5;-5.47;-5.31;-5.26;-5.52;-5.44	4.13	4.13	0.48395	.	51.894800	0.00166	N	0.000000	D	0.99302	0.9756	M	0.68952	2.095	0.53688	D	0.99997	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;0.999	D	0.95214	0.8328	10	0.33940	T	0.23	.	16.7705	0.85536	0.0:0.0:1.0:0.0	.	1781;1816;1781;1816	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	R	1816;1781;1816;1781;1822;1781	ENSP00000385019:G1816R;ENSP00000384093:G1781R;ENSP00000383887:G1816R;ENSP00000385680:G1781R;ENSP00000337829:G1822R;ENSP00000383028:G1781R	ENSP00000337829:G1822R	G	+	1	0	CACNA1I	38405724	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	9.289000	0.96061	2.004000	0.58718	0.561000	0.74099	GGG	-	NULL		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	G	NM_001003406	-		40075778	1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40075778	G	A	40075778	3	1	196	1	0	0	0	0	1	0	0	0	2548	1232	43	2	5576	2	CACNA1I	22	40075778	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2361	40075778	11228788	2282	15554											
FAM83F	113828	genome.wustl.edu	37	chr22	40417551	40417551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgcgctgggctgcccGgcaacagcgggaggcgggcg	20	11	0	1	rs201378321		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:40417551G>A	ENST00000333407.6	+	4	1131	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	FAM83F_ENST00000473717.1_Missense_Mutation_p.R178Q	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	346										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGGGCTGCCCGGCAACAGCGG	0.672													G|||	1	0.000199681	0	0.0014	5008	,	,		13929	0		0	False		,,,				2504	0																0								ENSG00000133477						20	22	21					22																	40417551		2199	4289	6488	FAM83F	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1037G>A	22.37:g.40417551G>A	ENSP00000330432:p.Arg346Gln	Somatic	0	21	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q96FD6	Missense_Mutation	SNP							pfam_DUF1669	p.R346Q	ENST00000333407.6	37	c.1037	CCDS14000.2	22	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.79	3.699088	0.68501	.	.	ENSG00000133477	ENST00000333407	T	0.10860	2.83	4.79	0.147	0.14838	.	0.254805	0.32687	N	0.005774	T	0.06142	0.0159	L	0.36672	1.1	0.22389	N	0.999142	B	0.33841	0.428	B	0.21917	0.037	T	0.29579	-1.0007	10	0.46703	T	0.11	-9.7045	5.7291	0.18030	0.2217:0.2579:0.5205:0.0	.	346	Q8NEG4	FA83F_HUMAN	Q	346	ENSP00000330432:R346Q	ENSP00000330432:R346Q	R	+	2	0	FAM83F	38747497	0.609000	0.26975	0.806000	0.32338	0.634000	0.38068	1.238000	0.32707	0.222000	0.20900	0.561000	0.74099	CGG	-	NULL		0.672	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	protein_coding	OTTHUMT00000319624.3	G	NM_138435	rs201378321		40417551	1	no_errors	ENST00000333407	ensembl	human	known	74_37	missense	SNP	0.469	A	A	40417551	G	A	40417551	3	1	196	1	0	0	0	0	1	0	0	0	5640	1116	39	1	1051	1	FAM83F	22	40417551	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	341773	40417551	10887015	2283	15555											
EP300	2033	genome.wustl.edu	37	chr22	41513453	41513453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggattaggtttgataaaTagcatggtcaaaagcccaat	9	7	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:41513453T>A	ENST00000263253.7	+	2	1576	c.357T>A	c.(355-357)aaT>aaA	p.N119K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	119	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTTTGATAAATAGCATGGTCA	0.522			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0								ENSG00000100393						75	72	73					22																	41513453		2203	4300	6503	EP300	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	-	HGNC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.357T>A	22.37:g.41513453T>A	ENSP00000263253:p.Asn119Lys	Somatic	0	31	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	B1AKC2	Missense_Mutation	SNP							pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.N119K	ENST00000263253.7	37	c.357	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957446	0.53400	.	.	ENSG00000100393	ENST00000263253	D	0.83673	-1.75	6.17	2.92	0.33932	.	0.000000	0.51477	D	0.000084	T	0.78078	0.4227	L	0.41236	1.265	0.39959	D	0.974632	D	0.57257	0.979	P	0.51918	0.684	T	0.72707	-0.4212	10	0.10377	T	0.69	-8.7584	8.7262	0.34471	0.0:0.3831:0.0:0.6169	.	119	Q09472	EP300_HUMAN	K	119	ENSP00000263253:N119K	ENSP00000263253:N119K	N	+	3	2	EP300	39843399	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.603000	0.24149	0.549000	0.28973	0.533000	0.62120	AAT	-	NULL		0.522	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	T	NM_001429	-		41513453	1	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41513453	T	A	41513453	3	1	196	1	0	0	0	0	1	0	0	0	5150	1403	49	5	363	5	EP300	22	41513453	Missense_Mutation	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	1095902	41513453	9791113	2284	15556											
XRCC6	2547	genome.wustl.edu	37	chr22	42018077	42018077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaacaagaagagaaCcttgaagcaagtggtaagtg	14	4	0	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42018077C>T	ENST00000359308.4	+	1	724	c.69C>T	c.(67-69)aaC>aaT	p.N23N	XRCC6_ENST00000405506.1_Missense_Mutation_p.T11I|XRCC6_ENST00000405878.1_Silent_p.N23N|XRCC6_ENST00000428575.2_5'UTR|DESI1_ENST00000263256.6_5'Flank|XRCC6_ENST00000360079.3_Silent_p.N23N|XRCC6_ENST00000402580.3_Silent_p.N23N			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	23	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AAGAAGAGAACCTTGAAGCAA	0.478								Non-homologous end-joining																																									0								ENSG00000196419						214	181	192					22																	42018077		2203	4300	6503	XRCC6	SO:0001819	synonymous_variant	0			-	HGNC	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.69C>T	22.37:g.42018077C>T		Somatic	0	77	0		0.52429534266604	124	38.31	77	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	63	40.57	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP							pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70	p.T11I	ENST00000359308.4	37	c.32	CCDS14021.1	22	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838045	0.50951	.	.	ENSG00000196419	ENST00000405506	.	.	.	5.36	3.18	0.36537	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.19300	N	0.999971	B	0.14012	0.009	B	0.19666	0.026	T	0.14755	-1.0461	7	0.35671	T	0.21	-0.5607	3.2962	0.06966	0.1494:0.5356:0.2168:0.0982	.	11	B1AHC9	.	I	11	.	ENSP00000384082:T11I	T	+	2	0	XRCC6	40348023	0.101000	0.21875	0.025000	0.17156	0.338000	0.28826	0.664000	0.25068	1.257000	0.44085	0.655000	0.94253	ACC	-	pirsf_Ku70		0.478	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	protein_coding	OTTHUMT00000321688.1	C	NM_001469	-		42018077	1	no_errors	ENST00000405506	ensembl	human	putative	74_37	missense	SNP	0.033	T	T	42018077	C	T	42018077	2	4	196	1	0	0	0	0	0	0	0	1	17464	506	18	2		2	XRCC6	22	42018077	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	504624	42018077	9286489	2285	15557											
CCDC134	79879	genome.wustl.edu	37	chr22	42205974	42205974	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccaccagcagtacaagatCcttgatgtcatgctcaaggg	9	11	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42205974C>T	ENST00000255784.5	+	3	299	c.195C>T	c.(193-195)atC>atT	p.I65I	CCDC134_ENST00000402061.3_Silent_p.I65I	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	65						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGTACAAGATCCTTGATGTCA	0.542																																																	0								ENSG00000100147						75	65	69					22																	42205974		2203	4300	6503	CCDC134	SO:0001819	synonymous_variant	0			-	HGNC	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.195C>T	22.37:g.42205974C>T		Somatic	0	45	0		0.52429534266604	4	50	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	34	34.62		Silent	SNP							NULL	p.I65	ENST00000255784.5	37	c.195	CCDS33654.1	22																																																																																			-	NULL		0.542	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	protein_coding	OTTHUMT00000321964.1	C	NM_024821	-		42205974	1	no_errors	ENST00000255784	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42205974	C	T	42205974	2	4	196	1	0	0	0	0	0	0	0	1	2770	845	30	2		2	CCDC134	22	42205974	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	187897	42205974	9098592	2286	15558											
TCF20	6942	genome.wustl.edu	37	chr22	42607518	42607518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgactgtctcttactgGgaatgggagagataaaagaa	12	5	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42607518G>A	ENST00000359486.3	-	1	3930	c.3794C>T	c.(3793-3795)cCc>cTc	p.P1265L	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.P1265L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTCTTACTGGGAATGGGAGA	0.448																																																	0								ENSG00000100207						162	149	153					22																	42607518		2203	4300	6503	TCF20	SO:0001583	missense	0			-	HGNC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3794C>T	22.37:g.42607518G>A	ENSP00000352463:p.Pro1265Leu	Somatic	0	35	0		0.52429534266604	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	25	45.65	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP							smart_Znf_PHD	p.P1265L	ENST00000359486.3	37	c.3794	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779991	0.70222	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	D;D	0.88664	-2.41;-2.38	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.93171	0.7825	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92955	0.6384	10	0.62326	D	0.03	-15.247	19.6556	0.95837	0.0:0.0:1.0:0.0	.	1265;1265	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	1265	ENSP00000352463:P1265L;ENSP00000335561:P1265L	ENSP00000335561:P1265L	P	-	2	0	TCF20	40937462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.935000	0.92923	2.882000	0.98803	0.655000	0.94253	CCC	-	NULL		0.448	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	protein_coding	OTTHUMT00000320531.1	G	NM_181492	-		42607518	-1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42607518	G	A	42607518	3	1	196	1	0	0	0	0	1	0	0	0	15697	1232	43	2	2126	2	TCF20	22	42607518	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	401544	42607518	8697048	2287	15559											
TCF20	6942	genome.wustl.edu	37	chr22	42610264	42610264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctcacaggaacctcagGctggttgtactgccccactt	10	14	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42610264G>A	ENST00000359486.3	-	1	1184	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	TCF20_ENST00000335626.4_Missense_Mutation_p.P350S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGAACCTCAGGCTGGTTGTAC	0.547																																																	0								ENSG00000100207						87	88	88					22																	42610264		2203	4300	6503	TCF20	SO:0001583	missense	0			-	HGNC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1048C>T	22.37:g.42610264G>A	ENSP00000352463:p.Pro350Ser	Somatic	0	74	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	103	22.56	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP							smart_Znf_PHD	p.P350S	ENST00000359486.3	37	c.1048	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	3.042	-0.197221	0.06259	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.29655	1.56;1.56	5.85	5.85	0.93711	.	0.171296	0.41500	D	0.000867	T	0.14787	0.0357	N	0.12182	0.205	0.80722	D	1	B;B	0.20988	0.05;0.03	B;B	0.17722	0.019;0.009	T	0.21930	-1.0231	10	0.22109	T	0.4	-14.9283	5.3675	0.16121	0.0756:0.1331:0.6352:0.1562	.	350;350	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	350	ENSP00000352463:P350S;ENSP00000335561:P350S	ENSP00000335561:P350S	P	-	1	0	TCF20	40940208	0.995000	0.38212	0.998000	0.56505	0.054000	0.15201	0.477000	0.22196	2.767000	0.95098	0.655000	0.94253	CCT	-	NULL		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	protein_coding	OTTHUMT00000320531.1	G	NM_181492	-		42610264	-1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	SNP	0.997	A	A	42610264	G	A	42610264	3	1	196	1	0	0	0	0	1	0	0	0	15697	1203	42	2	4872	2	TCF20	22	42610264	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2746	42610264	8694302	2288	15560											
TTLL1	25809	genome.wustl.edu	37	chr22	43459916	43459916	+	Missense_Mutation	SNP	C	C	T													ctgtgcagaaccggcaaaacCcaagcttgtacctaggaggg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:43459916C>T	ENST00000266254.7	-	7	890	c.650G>A	c.(649-651)gGg>gAg	p.G217E	TTLL1_ENST00000331018.7_Missense_Mutation_p.G217E	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	217	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CCGGCAAAACCCAAGCTTGTA	0.453																																																	0								ENSG00000100271						189	178	181					22																	43459916		2203	4300	6503	TTLL1	SO:0001583	missense	0			-	HGNC	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.650G>A	22.37:g.43459916C>T	ENSP00000266254:p.Gly217Glu	Somatic	0	61	0		0.52429534266604	36	21.74	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	52	45.26	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.G217E	ENST00000266254.7	37	c.650	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.463781|4.463781	0.84425|0.84425	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.09445|.	2.98;2.98|.	5.98|5.98	4.95|4.95	0.65309|0.65309	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89241|0.89241	0.6659|0.6659	H|H	0.98802|0.98802	4.335|4.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.93562|0.93562	0.6896|0.6896	10|7	0.87932|0.72032	D|D	0|0.01	.|.	15.6515|15.6515	0.77099|0.77099	0.0:0.8636:0.1364:0.0|0.0:0.8636:0.1364:0.0	.|.	217;217|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	E|S	217|143	ENSP00000333734:G217E;ENSP00000266254:G217E|.	ENSP00000266254:G217E|ENSP00000418269:G143S	G|G	-|-	2|1	0|0	TTLL1|TTLL1	41789860|41789860	1.000000|1.000000	0.71417|0.71417	0.809000|0.809000	0.32408|0.32408	0.949000|0.949000	0.60115|0.60115	5.750000|5.750000	0.68712|0.68712	1.514000|1.514000	0.48869|0.48869	0.591000|0.591000	0.81541|0.81541	GGG|GGT	-	pfam_TTL/TTLL_fam		0.453	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	protein_coding	OTTHUMT00000319659.1	C	NM_012263	-		43459916	-1	no_errors	ENST00000266254	ensembl	human	known	74_37	missense	SNP	0.999	T	T	43459916	C	T	43459916	3	4	196	1	0	0	0	0	1	0	0	0	16729	623	22	2	641	2	TTLL1	22	43459916	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	849652	43459916	7844650	2289	15561	386	2									
TTLL1	25809	genome.wustl.edu	37	chr22	43459917	43459917	+	Missense_Mutation	SNP	C	C	T													tgtgcagaaccggcaaaaccCaagcttgtacctaggaggga							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:43459917C>T	ENST00000266254.7	-	7	889	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	TTLL1_ENST00000331018.7_Missense_Mutation_p.G217R	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	217	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CGGCAAAACCCAAGCTTGTAC	0.453																																																	0								ENSG00000100271						186	176	179					22																	43459917		2203	4300	6503	TTLL1	SO:0001583	missense	0			-	HGNC	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.649G>A	22.37:g.43459917C>T	ENSP00000266254:p.Gly217Arg	Somatic	0	58	0		0.52429534266604	38	20.83	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	51	44.57	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.G217R	ENST00000266254.7	37	c.649	CCDS14043.1	22	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020201	0.93462	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.09350	2.99;2.99	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77485	-0.2570	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	217;217	O95922-4;O95922	.;TTLL1_HUMAN	R	217	ENSP00000333734:G217R;ENSP00000266254:G217R	ENSP00000266254:G217R	G	-	1	0	TTLL1	41789861	1.000000	0.71417	0.892000	0.35008	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GGG	-	pfam_TTL/TTLL_fam		0.453	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	protein_coding	OTTHUMT00000319659.1	C	NM_012263	-		43459917	-1	no_errors	ENST00000266254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43459917	C	T	43459917	3	4	196	1	0	0	0	0	1	0	0	0	16729	594	21	2	642	2	TTLL1	22	43459917	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	43459917	7844649	2290	15562	386	2									
SULT4A1	25830	genome.wustl.edu	37	chr22	44237720	44237720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgtgggtactccaggaCcgggagctgctcgtcgatgt	16	11	0	0	rs11542810		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:44237720C>T	ENST00000330884.4	-	2	382	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.V88I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TACTCCAGGACCGGGAGCTGC	0.607																																																	0								ENSG00000130540						61	62	62					22																	44237720		2203	4300	6503	SULT4A1	SO:0001583	missense	0			-	HGNC	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.262G>A	22.37:g.44237720C>T	ENSP00000332565:p.Val88Ile	Somatic	0	65	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	81	35.20	B2R7N3|O43728	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V88I	ENST00000330884.4	37	c.262	CCDS14051.1	22	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515357	0.44763	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	T;T	0.01685	4.69;4.69	4.4	4.4	0.53042	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.14661	0.345	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.62315	-0.6880	10	0.54805	T	0.06	.	15.943	0.79771	0.0:1.0:0.0:0.0	.	88	Q9BR01	ST4A1_HUMAN	I	88	ENSP00000332565:V88I;ENSP00000249130:V88I	ENSP00000249130:V88I	V	-	1	0	SULT4A1	42569053	1.000000	0.71417	0.938000	0.37757	0.348000	0.29142	7.204000	0.77872	1.999000	0.58509	0.650000	0.86243	GTC	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.607	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	protein_coding	OTTHUMT00000280660.2	C	NM_014351	-		44237720	-1	no_errors	ENST00000330884	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44237720	C	T	44237720	3	4	196	1	0	0	0	0	1	0	0	0	15390	507	18	2	616	2	SULT4A1	22	44237720	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	777803	44237720	7066846	2291	15563											
GTSE1	51512	genome.wustl.edu	37	chr22	46704373	46704373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggccggggagaagttcGtggaggtgtacaaagaagct	16	7	1	2	rs200240747		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:46704373G>A	ENST00000454366.1	+	4	507	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	80					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGAGAAGTTCGTGGAGGTGTA	0.567																																					GBM(153;542 1915 12487 29016 50495)												0								ENSG00000075218	G	MET/VAL	0,4406		0,0,2203	79	89	86		295	5.7	0.9	22		86	2,8598	2.2+/-6.3	0,2,4298	no	missense	GTSE1	NM_016426.6	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	99/740	46704373	2,13004	2203	4300	6503	GTSE1	SO:0001583	missense	0			-	HGNC	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.295G>A	22.37:g.46704373G>A	ENSP00000415430:p.Val99Met	Somatic	0	96	0		0.52429534266604	5	61.54	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	66	39.45	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP							NULL	p.V99M	ENST00000454366.1	37	c.295	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629124	0.87560	0.0	2.33E-4	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10099	2.91	5.74	5.74	0.90152	.	0.171066	0.49916	D	0.000123	T	0.32376	0.0827	M	0.66939	2.045	0.42123	D	0.991435	D	0.89917	1.0	D	0.63703	0.917	T	0.01051	-1.1468	10	0.72032	D	0.01	-22.3714	19.5244	0.95197	0.0:0.0:1.0:0.0	.	80	Q9NYZ3	GTSE1_HUMAN	M	99;59	ENSP00000415430:V99M	ENSP00000354634:V59M	V	+	1	0	GTSE1	45083037	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	2.954000	0.49113	2.700000	0.92200	0.655000	0.94253	GTG	-	NULL		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	protein_coding	OTTHUMT00000318360.2	G	NM_016426	rs200240747		46704373	1	no_errors	ENST00000454366	ensembl	human	known	74_37	missense	SNP	0.997	A	A	46704373	G	A	46704373	3	1	196	1	0	0	0	0	1	0	0	0	6887	1145	40	1	305	1	GTSE1	22	46704373	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2466653	46704373	4600193	2292	15564											
CELSR1	9620	genome.wustl.edu	37	chr22	46787588	46787588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagcggttgcactggcgGccgatgacgccgggcttgca	16	13	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:46787588G>A	ENST00000262738.3	-	15	6089	c.6090C>T	c.(6088-6090)ggC>ggT	p.G2030G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2030	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			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)		TGCACTGGCGGCCGATGACGC	0.682																																																	0								ENSG00000075275						29	30	30					22																	46787588		2198	4298	6496	CELSR1	SO:0001819	synonymous_variant	0			-	HGNC	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.6090C>T	22.37:g.46787588G>A		Somatic	0	60	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	84	29.41	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G2030	ENST00000262738.3	37	c.6090	CCDS14076.1	22																																																																																			-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246	-		46787588	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	silent	SNP	0.998	A	A	46787588	G	A	46787588	2	1	196	1	0	0	0	0	0	0	0	1	3223	1190	42	2		2	CELSR1	22	46787588	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	83215	46787588	4516978	2293	15565											
CELSR1	9620	genome.wustl.edu	37	chr22	46930172	46930172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacagccagagcccaaaGgttgtacacggccacattct	8	14	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:46930172G>A	ENST00000262738.3	-	1	2895	c.2896C>T	c.(2896-2898)Ctt>Ttt	p.L966F	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.L966F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	966	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)		AGAGCCCAAAGGTTGTACACG	0.607																																																	0								ENSG00000075275						59	60	59					22																	46930172		2202	4300	6502	CELSR1	SO:0001583	missense	0			-	HGNC	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.2896C>T	22.37:g.46930172G>A	ENSP00000262738:p.Leu966Phe	Somatic	0	33	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	39	33.33	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L966F	ENST00000262738.3	37	c.2896	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632959	0.67015	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.26957	1.7;1.7	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	U	0.000045	T	0.39306	0.1073	N	0.26042	0.785	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.39603	-0.9606	10	0.87932	D	0	.	16.8638	0.86024	0.0:0.0:1.0:0.0	.	966	Q9NYQ6	CELR1_HUMAN	F	966	ENSP00000262738:L966F;ENSP00000379293:L966F	ENSP00000262738:L966F	L	-	1	0	CELSR1	45308836	1.000000	0.71417	0.927000	0.36925	0.665000	0.39181	4.354000	0.59417	2.297000	0.77311	0.462000	0.41574	CTT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246	-		46930172	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46930172	G	A	46930172	3	1	196	1	0	0	0	0	1	0	0	0	3223	1000	35	2	6288	2	CELSR1	22	46930172	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	142584	46930172	4374394	2294	15566											
MLC1	23209	genome.wustl.edu	37	chr22	50506973	50506973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaggctgcttatggcaatCaggacctccacctggaaaaa	11	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:50506973C>T	ENST00000311597.5	-	10	1389	c.783G>A	c.(781-783)ctG>ctA	p.L261L	MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Silent_p.L209L|MLC1_ENST00000538737.1_Silent_p.L227L|MLC1_ENST00000395876.2_Silent_p.L261L|MLC1_ENST00000535444.1_Silent_p.L182L|MLC1_ENST00000431262.2_Silent_p.L231L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	261					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TTATGGCAATCAGGACCTCCA	0.607																																																	0								ENSG00000100427						96	99	98					22																	50506973		2203	4300	6503	MLC1	SO:0001819	synonymous_variant	0			-	HGNC	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.783G>A	22.37:g.50506973C>T		Somatic	0	67	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	68	21.84	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP							NULL	p.L261	ENST00000311597.5	37	c.783	CCDS14083.1	22																																																																																			-	NULL		0.607	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	protein_coding	OTTHUMT00000316979.2	C	NM_015166	-		50506973	-1	no_errors	ENST00000311597	ensembl	human	known	74_37	silent	SNP	1.000	T	T	50506973	C	T	50506973	2	4	196	1	0	0	0	0	0	0	0	1	9614	813	29	2		2	MLC1	22	50506973	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3576801	50506973	797593	2295	15567											
MAPK12	6300	genome.wustl.edu	37	chr22	50691884	50691884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgccggggaggcttgaaGctgagcacctctttgtaagt	14	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:50691884G>A	ENST00000215659.8	-	12	1365	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	HDAC10_ENST00000216271.5_5'Flank|HDAC10_ENST00000349505.4_5'Flank|MAPK12_ENST00000395780.1_Silent_p.S260S|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	350					cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCTTGAAGCTGAGCACCT	0.642																																																	0								ENSG00000188130						11	10	10					22																	50691884		2107	4167	6274	MAPK12	SO:0001819	synonymous_variant	0			-	HGNC	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.1050C>T	22.37:g.50691884G>A		Somatic	0	93	0		0.52429534266604	69	22.47	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	85	33.59	Q14260|Q6IC53|Q99588|Q99672	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38	p.S350	ENST00000215659.8	37	c.1050	CCDS14089.1	22																																																																																			-	superfamily_Kinase-like_dom		0.642	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK12	protein_coding	OTTHUMT00000074999.2	G	NM_002969	-		50691884	-1	no_errors	ENST00000215659	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50691884	G	A	50691884	2	1	196	1	0	0	0	0	0	0	0	1	9276	962	34	2		2	MAPK12	22	50691884	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	184911	50691884	612682	2296	15568											
PLXNB2	23654	genome.wustl.edu	37	chr22	50717402	50717402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggaccttcaccgggatGgcgtccactccctcgtcctg	11	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:50717402G>A	ENST00000449103.1	-	28	4568	c.4428C>T	c.(4426-4428)gcC>gcT	p.A1476A	PLXNB2_ENST00000359337.4_Silent_p.A1476A			O15031	PLXB2_HUMAN	plexin B2	1476					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCGGGATGGCGTCCACTC	0.622																																																	0								ENSG00000196576						115	119	118					22																	50717402		2200	4298	6498	PLXNB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4428C>T	22.37:g.50717402G>A		Somatic	0	32	0		0.52429534266604	337	20.61	88	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1476	ENST00000449103.1	37	c.4428	CCDS43035.1	22																																																																																			-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	G	NM_012401	-		50717402	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	SNP	0.142	A	A	50717402	G	A	50717402	2	1	196	1	0	0	0	0	0	0	0	1	12126	1335	47	2		2	PLXNB2	22	50717402	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	25518	50717402	587164	2297	15569											
SHANK3	85358	genome.wustl.edu	37	chr22	51159802	51159802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggaggcagagaaggtcCcccgggaggagcggaagtca	19	9	1	1	rs200188413	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:51159802C>T	ENST00000414786.2	+	21	3726	c.3499C>T	c.(3499-3501)Ccc>Tcc	p.P1167S	SHANK3_ENST00000262795.3_Missense_Mutation_p.P1197S|SHANK3_ENST00000445220.2_Missense_Mutation_p.P1183S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1181					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGAGAAGGTCCCCCGGGAGGA	0.672													C|||	2	0.000399361	0	0	5008	,	,		13516	0		0	False		,,,				2504	0.002																0								ENSG00000251322						35	44	41					22																	51159802		2046	4166	6212	SHANK3	SO:0001583	missense	0			-	HGNC	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3499C>T	22.37:g.51159802C>T	ENSP00000464552:p.Pro1167Ser	Somatic	0	85	0		0.52429534266604	22	4.35	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	75	40.48	D7UT47|Q8TET3	Missense_Mutation	SNP							pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1197S	ENST00000414786.2	37	c.3589		22	.	.	.	.	.	.	.	.	.	.	C	5.833	0.337853	0.11013	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.15834	2.39;2.39	4.58	0.972	0.19704	.	0.926833	0.09285	N	0.823232	T	0.12603	0.0306	N	0.22421	0.69	0.09310	N	0.999998	B;P;B	0.51057	0.0;0.941;0.0	B;P;B	0.48770	0.001;0.589;0.0	T	0.17992	-1.0351	10	0.20046	T	0.44	.	3.1149	0.06371	0.1619:0.4424:0.2976:0.0982	.	1181;1182;1197	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	S	1197;1183	ENSP00000442518:P1197S;ENSP00000446078:P1183S	ENSP00000442518:P1197S	P	+	1	0	SHANK3	49506668	0.000000	0.05858	0.440000	0.26846	0.801000	0.45260	0.550000	0.23345	0.350000	0.24002	0.462000	0.41574	CCC	-	NULL		0.672	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	protein_coding	OTTHUMT00000316674.2	C	NM_001080420	-		51159802	1	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	SNP	0.381	T	T	51159802	C	T	51159802	3	4	196	1	0	0	0	0	1	0	0	0	14274	623	22	2	3675	2	SHANK3	22	51159802	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	442400	51159802	144764	2298	15570											
SLC25A6	293	genome.wustl.edu	37	chrX	1508618	1508618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgcttgctggcgtgctgGacctgggggacgcagagggt	18	9	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:1508618G>A	ENST00000381401.5	-	2	828	c.114C>T	c.(112-114)gtC>gtT	p.V38V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	38					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		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)			Clodronate(DB00720)	TGGCGTGCTGGACCTGGGGGA	0.587																																																	0								ENSG00000169100						86	80	82					X																	1508618		2203	4296	6499	SLC25A6	SO:0001819	synonymous_variant	0			-	HGNC	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.114C>T	X.37:g.1508618G>A		Somatic	0	49	0		0.52429534266604	1394	24.84	461	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	65	41.44	Q96C49	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.V38	ENST00000381401.5	37	c.114	CCDS14114.1	X																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.587	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	protein_coding	OTTHUMT00000055596.1	G	NM_001636	-		1508618	-1	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	SNP	0.833	A	A	1508618	G	A	1508618	2	1	196	1	0	0	0	0	0	0	0	1	14521	1161	41	2		2	SLC25A6	23	1508618	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09		1508618	153761942	2299	15571											
SHROOM2	357	genome.wustl.edu	37	chrX	9863008	9863008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactttacggccctggccCaggctcagcctcgtggtgac	12	15	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:9863008C>T	ENST00000380913.3	+	4	1150	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	354					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)				GGCCCTGGCCCAGGCTCAGCC	0.677																																																	0								ENSG00000146950						18	17	18					X																	9863008		2201	4300	6501	SHROOM2	SO:0001587	stop_gained	0			-	HGNC	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.1060C>T	X.37:g.9863008C>T	ENSP00000370299:p.Gln354*	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	21	46.15	B9EIQ7	Nonsense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q354*	ENST00000380913.3	37	c.1060	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463844	0.84425	.	.	ENSG00000146950	ENST00000380913	.	.	.	4.51	2.74	0.32292	.	1.514700	0.04043	N	0.303533	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.7688	4.8155	0.13365	0.1687:0.6465:0.0:0.1848	.	.	.	.	X	354	.	ENSP00000370299:Q354X	Q	+	1	0	SHROOM2	9823008	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.059000	0.14322	0.250000	0.21479	0.600000	0.82982	CAG	-	NULL		0.677	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	C	NM_001649	-		9863008	1	no_errors	ENST00000380913	ensembl	human	known	74_37	nonsense	SNP	0.002	T	T	9863008	C	T	9863008	4	4	196	1	0	0	0	0	0	1	0	0	14302	595	21	2	1074	2	SHROOM2	23	9863008	Nonsense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8354390	9863008	145407552	2300	15572											
CLCN4	1183	genome.wustl.edu	37	chrX	10182005	10182005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacagcatgactgtcgagGacgtggagacgctcatcaag	14	9	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:10182005G>A	ENST00000380833.4	+	11	2252	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	CLCN4_ENST00000380829.1_Missense_Mutation_p.D590N|CLCN4_ENST00000421085.2_Missense_Mutation_p.D527N|AC003666.1_ENST00000410201.1_RNA	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	621	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACTGTCGAGGACGTGGAGAC	0.632																																					Melanoma(74;1050 1296 1576 30544 38374)												0								ENSG00000073464						37	31	33					X																	10182005		2203	4300	6503	CLCN4	SO:0001583	missense	0			-	HGNC	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1861G>A	X.37:g.10182005G>A	ENSP00000370213:p.Asp621Asn	Somatic	0	58	0		0.52429534266604	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	29	65.88	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP							pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.D621N	ENST00000380833.4	37	c.1861	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011548	0.54468	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94687	-3.49;-3.49;-3.49	5.29	5.29	0.74685	Cystathionine beta-synthase, core (3);	0.091236	0.64402	D	0.000001	D	0.94729	0.8299	M	0.79123	2.44	0.80722	D	1	B	0.19445	0.036	B	0.27380	0.079	D	0.92972	0.6398	10	0.72032	D	0.01	-40.9702	18.0653	0.89389	0.0:0.0:1.0:0.0	.	621	P51793	CLCN4_HUMAN	N	621;590;527	ENSP00000370213:D621N;ENSP00000370209:D590N;ENSP00000405754:D527N	ENSP00000370209:D590N	D	+	1	0	CLCN4	10142005	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	9.653000	0.98506	2.202000	0.70862	0.513000	0.50165	GAC	-	pfam_CBS_dom,smart_CBS_dom		0.632	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	protein_coding	OTTHUMT00000055730.1	G		-		10182005	1	no_errors	ENST00000380833	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10182005	G	A	10182005	3	1	196	1	0	0	0	0	1	0	0	0	3467	1174	41	2	1895	2	CLCN4	23	10182005	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	318997	10182005	145088555	2301	15573											
MID1	4281	genome.wustl.edu	37	chrX	10535288	10535288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcccgctcccgacgGgtctcgctgggagagttggg	16	12	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:10535288G>A	ENST00000317552.4	-	2	700	c.300C>T	c.(298-300)acC>acT	p.T100T	MID1_ENST00000380782.2_Silent_p.T100T|MID1_ENST00000380780.1_Silent_p.T100T|MID1_ENST00000453318.2_Silent_p.T100T|MID1_ENST00000380787.1_Silent_p.T100T|MID1_ENST00000380779.1_Silent_p.T100T|MID1_ENST00000380785.1_Silent_p.T100T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	100					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTCCCGACGGGTCTCGCTGG	0.602																																																	0								ENSG00000101871						112	90	97					X																	10535288		2203	4300	6503	MID1	SO:0001819	synonymous_variant	0			-	HGNC	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.300C>T	X.37:g.10535288G>A		Somatic	0	17	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	8	78.38	B2RCG2|O75361|Q9BZX5	Silent	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T100	ENST00000317552.4	37	c.300	CCDS14138.1	X																																																																																			-	NULL		0.602	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	protein_coding	OTTHUMT00000055738.1	G		-		10535288	-1	no_errors	ENST00000317552	ensembl	human	known	74_37	silent	SNP	1.000	A	A	10535288	G	A	10535288	2	1	196	1	0	0	0	0	0	0	0	1	9578	1219	43	2		2	MID1	23	10535288	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	353283	10535288	144735272	2302	15574											
FRMPD4	9758	genome.wustl.edu	37	chrX	12712520	12712520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagcttcgtcccaaaagatCcaattgaccttttaaggaga	7	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:12712520C>T	ENST00000380682.1	+	9	1386	c.880C>T	c.(880-882)Cca>Tca	p.P294S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCAAAAGATCCAATTGACCT	0.398																																																	0								ENSG00000169933						148	114	126					X																	12712520		2203	4300	6503	FRMPD4	SO:0001583	missense	0			-	HGNC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.880C>T	X.37:g.12712520C>T	ENSP00000370057:p.Pro294Ser	Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	50	34.21	A8K0X9|O15032	Missense_Mutation	SNP							pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.P294S	ENST00000380682.1	37	c.880	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030065	0.93575	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.42513	0.97	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.62016	1.91	0.49389	D	0.999788	D;D	0.89917	1.0;0.99	D;D	0.97110	1.0;0.963	T	0.65919	-0.6051	10	0.59425	D	0.04	.	18.038	0.89311	0.0:1.0:0.0:0.0	.	286;294	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	294;285;283	ENSP00000370057:P294S	ENSP00000304583:P283S	P	+	1	0	FRMPD4	12622441	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.370000	0.79589	2.281000	0.76405	0.600000	0.82982	CCA	-	superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.398	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	C	XM_045712	-		12712520	1	no_errors	ENST00000380682	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12712520	C	T	12712520	3	4	196	1	0	0	0	0	1	0	0	0	6061	855	30	2	914	2	FRMPD4	23	12712520	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2177232	12712520	142558040	2303	15575											
FRMPD4	9758	genome.wustl.edu	37	chrX	12736026	12736026	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactcctgcactagcaaaagGaaaagcaagctggccgatgg	11	10	0	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:12736026G>A	ENST00000380682.1	+	16	3587	c.3081G>A	c.(3079-3081)agG>agA	p.R1027R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1027					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTAGCAAAAGGAAAAGCAAGC	0.517																																																	0								ENSG00000169933						102	87	92					X																	12736026		2203	4300	6503	FRMPD4	SO:0001819	synonymous_variant	0			-	HGNC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3081G>A	X.37:g.12736026G>A		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	A8K0X9|O15032	Silent	SNP							pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.R1027	ENST00000380682.1	37	c.3081	CCDS35201.1	X																																																																																			-	NULL		0.517	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	G	XM_045712	-		12736026	1	no_errors	ENST00000380682	ensembl	human	known	74_37	silent	SNP	1.000	A	A	12736026	G	A	12736026	2	1	196	1	0	0	0	0	0	0	0	1	6061	1165	41	2		2	FRMPD4	23	12736026	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	23506	12736026	142534534	2304	15576											
TLR8	51311	genome.wustl.edu	37	chrX	12939947	12939947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccgggattggccatcatcGacaacctcatgcagagcatc	9	13	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:12939947G>A	ENST00000218032.6	+	2	2875	c.2788G>A	c.(2788-2790)Gac>Aac	p.D930N	TLR8_ENST00000311912.5_Missense_Mutation_p.D948N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	930	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGCCATCATCGACAACCTCAT	0.428																																																	0								ENSG00000101916						72	73	73					X																	12939947		2203	4300	6503	TLR8	SO:0001583	missense	0			-	HGNC	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2788G>A	X.37:g.12939947G>A	ENSP00000218032:p.Asp930Asn	Somatic	0	20	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D930N	ENST00000218032.6	37	c.2788	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740197	0.69304	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02606	4.23;4.23	5.97	5.08	0.68730	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.42053	D	0.000767	T	0.14570	0.0352	M	0.80028	2.48	0.48236	D	0.99961	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00132	-1.2011	10	0.87932	D	0	.	10.3499	0.43929	0.074:0.1331:0.7929:0.0	.	930;948	Q9NR97;D1CS70	TLR8_HUMAN;.	N	930;948	ENSP00000218032:D930N;ENSP00000312082:D948N	ENSP00000218032:D930N	D	+	1	0	TLR8	12849868	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	4.924000	0.63418	1.234000	0.43709	0.600000	0.82982	GAC	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.428	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	protein_coding	OTTHUMT00000055784.2	G	NM_016610	-		12939947	1	no_errors	ENST00000218032	ensembl	human	known	74_37	missense	SNP	0.992	A	A	12939947	G	A	12939947	3	1	196	1	0	0	0	0	1	0	0	0	15964	1058	37	1	2794	1	TLR8	23	12939947	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	203921	12939947	142330613	2305	15577											
GRPR	2925	genome.wustl.edu	37	chrX	16168572	16168572	+	Silent	SNP	G	G	A													gacctccatcccttccatgaGgaaagcaccaaccagacctt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:16168572G>A	ENST00000380289.2	+	2	956	c.558G>A	c.(556-558)gaG>gaA	p.E186E	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	186					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCTTCCATGAGGAAAGCACCA	0.507																																																	0								ENSG00000126010						217	166	183					X																	16168572		2203	4300	6503	GRPR	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.558G>A	X.37:g.16168572G>A		Somatic	0	39	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	10	74.36	B2R910	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E186	ENST00000380289.2	37	c.558	CCDS14174.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_pep_rcpt		0.507	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	protein_coding	OTTHUMT00000055901.1	G	NM_005314	-		16168572	1	no_errors	ENST00000380289	ensembl	human	known	74_37	silent	SNP	0.657	A	A	16168572	G	A	16168572	2	1	196	1	0	0	0	0	0	0	0	1	6810	991	35	2		2	GRPR	23	16168572	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3228625	16168572	139101988	2306	15578	387	2									
GRPR	2925	genome.wustl.edu	37	chrX	16168573	16168573	+	Missense_Mutation	SNP	G	G	A													acctccatcccttccatgagGaaagcaccaaccagaccttc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:16168573G>A	ENST00000380289.2	+	2	957	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	187					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTTCCATGAGGAAAGCACCAA	0.502																																																	0								ENSG00000126010						219	167	185					X																	16168573		2203	4300	6503	GRPR	SO:0001583	missense	0			-	HGNC		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.559G>A	X.37:g.16168573G>A	ENSP00000369643:p.Glu187Lys	Somatic	0	38	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	10	75.00	B2R910	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E187K	ENST00000380289.2	37	c.559	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	G	5.008	0.187121	0.09547	.	.	ENSG00000126010	ENST00000380289	T	0.36878	1.23	5.57	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.679721	0.15188	N	0.275717	T	0.14874	0.0359	N	0.12182	0.205	0.20703	N	0.999861	B	0.02656	0.0	B	0.06405	0.002	T	0.25152	-1.0140	10	0.09590	T	0.72	-5.3977	3.6984	0.08374	0.3648:0.3442:0.2909:0.0	.	187	P30550	GRPR_HUMAN	K	187	ENSP00000369643:E187K	ENSP00000369643:E187K	E	+	1	0	GRPR	16078494	0.997000	0.39634	0.999000	0.59377	0.993000	0.82548	1.163000	0.31798	1.089000	0.41292	0.600000	0.82982	GAA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_pep_rcpt		0.502	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	protein_coding	OTTHUMT00000055901.1	G	NM_005314	-		16168573	1	no_errors	ENST00000380289	ensembl	human	known	74_37	missense	SNP	0.504	A	A	16168573	G	A	16168573	3	1	196	1	0	0	0	0	1	0	0	0	6810	1175	41	2	565	2	GRPR	23	16168573	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	16168573	139101987	2307	15579	387	2									
PPEF1	5475	genome.wustl.edu	37	chrX	18725934	18725934	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttcaacgaaaaccaggaGatctgacacatgtgagtact	8	9	3	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:18725934G>A	ENST00000361511.4	+	4	529	c.35G>A	c.(34-36)aGa>aAa	p.R12K	PPEF1_ENST00000349874.5_Missense_Mutation_p.R12K|PPEF1_ENST00000544635.1_5'UTR|PPEF1_ENST00000543630.1_Missense_Mutation_p.R12K|PPEF1_ENST00000359763.6_Missense_Mutation_p.R12K|PPEF1_ENST00000471570.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	12					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAAACCAGGAGATCTGACACA	0.418																																																	0								ENSG00000086717						144	116	126					X																	18725934		2203	4300	6503	PPEF1	SO:0001583	missense	0			-	HGNC	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.35G>A	X.37:g.18725934G>A	ENSP00000354871:p.Arg12Lys	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	14	72.00	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP							pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.R12K	ENST00000361511.4	37	c.35	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.387675	0.00202	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.20200	3.43;3.29;3.27;2.09	5.52	-6.27	0.02026	.	1.214210	0.06109	N	0.666764	T	0.03608	0.0103	N	0.00289	-1.7	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.38779	-0.9645	10	0.02654	T	1	1.0476	8.7718	0.34737	0.3353:0.1328:0.5319:0.0	.	12;12;12	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	12	ENSP00000354871:R12K;ENSP00000352806:R12K;ENSP00000341892:R12K;ENSP00000437785:R12K	ENSP00000341892:R12K	R	+	2	0	PPEF1	18635855	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-1.640000	0.01525	-1.894000	0.00533	AGA	-	pirsf_Ser/Thr-Pase_EF-hand_contain		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	protein_coding	OTTHUMT00000055953.3	G	NM_006240	-		18725934	1	no_errors	ENST00000361511	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18725934	G	A	18725934	3	1	196	1	0	0	0	0	1	0	0	0	12309	942	33	2	37	2	PPEF1	23	18725934	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2557361	18725934	136544626	2308	15580											
CNKSR2	22866	genome.wustl.edu	37	chrX	21549994	21549994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaaaaggaaaccttcCttgtgaagacctcagaggac	11	8	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:21549994C>T	ENST00000379510.3	+	11	1148	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P371L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P371L|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P322L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	371	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGAAACCTTCCTTGTGAAGAC	0.388																																																	0								ENSG00000149970						73	71	72					X																	21549994		2202	4298	6500	CNKSR2	SO:0001583	missense	0			-	HGNC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1112C>T	X.37:g.21549994C>T	ENSP00000368824:p.Pro371Leu	Somatic	0	61	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP							pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P371L	ENST00000379510.3	37	c.1112	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	c	14.01	2.407332	0.42715	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.16324	2.62;2.36;2.35;2.6	5.54	5.54	0.83059	Connector enhancer of kinase suppressor of ras 2 (1);	0.054038	0.85682	D	0.000000	T	0.13500	0.0327	N	0.19112	0.55	0.51012	D	0.999903	B;B;B	0.32365	0.367;0.036;0.027	B;B;B	0.33568	0.166;0.018;0.017	T	0.13818	-1.0495	10	0.16420	T	0.52	-10.6662	18.4882	0.90836	0.0:1.0:0.0:0.0	.	371;322;371	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	L	371;322;371;371	ENSP00000397906:P371L;ENSP00000444633:P322L;ENSP00000279451:P371L;ENSP00000368824:P371L	ENSP00000279451:P371L	P	+	2	0	CNKSR2	21459915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	2.307000	0.77673	0.534000	0.68092	CCT	-	pfam_CNKSR2		0.388	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	protein_coding	OTTHUMT00000056019.1	C	NM_014927	-		21549994	1	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21549994	C	T	21549994	3	4	196	1	0	0	0	0	1	0	0	0	3609	681	24	2	1154	2	CNKSR2	23	21549994	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	2824060	21549994	133720566	2309	15581											
YY2	404281	genome.wustl.edu	37	chrX	21875571	21875571	+	Silent	SNP	C	C	T													ggctgcgggaaacgcttttcCcttgatttcaatttgcgcac							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:21875571C>T	ENST00000429584.2	+	1	1467	c.969C>T	c.(967-969)tcC>tcT	p.S323S	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	323	Mediates transcriptional repression.				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(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AACGCTTTTCCCTTGATTTCA	0.532																																																	0								ENSG00000230797						180	179	180					X																	21875571		2203	4300	6503	YY2	SO:0001819	synonymous_variant	0			-	HGNC	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.969C>T	X.37:g.21875571C>T		Somatic	0	19	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	13	60.61	B2RP10|Q6Q1S4	Silent	SNP							smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.S323	ENST00000429584.2	37	c.969	CCDS14202.1	X																																																																																			-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2		0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	protein_coding	OTTHUMT00000056025.1	C	NM_206923	-		21875571	1	no_errors	ENST00000429584	ensembl	human	known	74_37	silent	SNP	0.988	T	T	21875571	C	T	21875571	2	4	196	1	0	0	0	0	0	0	0	1	17516	610	22	2		2	YY2	23	21875571	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	325577	21875571	133394989	2310	15582	388	2									
YY2	404281	genome.wustl.edu	37	chrX	21875572	21875572	+	Missense_Mutation	SNP	C	C	T													gctgcgggaaacgcttttccCttgatttcaatttgcgcaca							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:21875572C>T	ENST00000429584.2	+	1	1468	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	324	Mediates transcriptional repression.				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.L324I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACGCTTTTCCCTTGATTTCAA	0.532																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000230797						180	179	180					X																	21875572		2203	4300	6503	YY2	SO:0001583	missense	0			-	HGNC	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.970C>T	X.37:g.21875572C>T	ENSP00000389381:p.Leu324Phe	Somatic	0	19	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	13	60.61	B2RP10|Q6Q1S4	Missense_Mutation	SNP							smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.L324F	ENST00000429584.2	37	c.970	CCDS14202.1	X	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822766	0.71028	.	.	ENSG00000230797	ENST00000429584	T	0.42131	0.98	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000003	T	0.40473	0.1118	N	0.11064	0.09	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.34576	-0.9823	10	0.44086	T	0.13	.	7.7732	0.29021	0.0:0.886:0.0:0.1139	.	324	O15391	TYY2_HUMAN	F	324	ENSP00000389381:L324F	ENSP00000389381:L324F	L	+	1	0	YY2	21785493	1.000000	0.71417	0.936000	0.37596	0.711000	0.40976	3.037000	0.49775	2.276000	0.75962	0.544000	0.68410	CTT	-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2		0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	protein_coding	OTTHUMT00000056025.1	C	NM_206923	-		21875572	1	no_errors	ENST00000429584	ensembl	human	known	74_37	missense	SNP	0.999	T	T	21875572	C	T	21875572	3	4	196	1	0	0	0	0	1	0	0	0	17516	681	24	2	972	2	YY2	23	21875572	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	21875572	133394988	2311	15583	388	2									
MAGEB18	286514	genome.wustl.edu	37	chrX	26157983	26157983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccaagatacatgataCcgtccctagtgccttcccat	7	13	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:26157983C>T	ENST00000325250.1	+	2	1068	c.881C>T	c.(880-882)aCc>aTc	p.T294I		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	294	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATACATGATACCGTCCCTAGT	0.517																																																	0								ENSG00000176774						83	54	64					X																	26157983		2202	4300	6502	MAGEB18	SO:0001583	missense	0			-	HGNC	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.881C>T	X.37:g.26157983C>T	ENSP00000314543:p.Thr294Ile	Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	13	68.29		Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T294I	ENST00000325250.1	37	c.881	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804760	0.16467	.	.	ENSG00000176774	ENST00000325250	T	0.02158	4.42	4.56	4.56	0.56223	.	0.291140	0.32608	N	0.005873	T	0.05090	0.0136	M	0.85462	2.755	0.09310	N	1	P	0.42649	0.786	B	0.37943	0.261	T	0.23940	-1.0174	10	0.56958	D	0.05	.	11.6598	0.51339	0.0:1.0:0.0:0.0	.	294	Q96M61	MAGBI_HUMAN	I	294	ENSP00000314543:T294I	ENSP00000314543:T294I	T	+	2	0	MAGEB18	26067904	0.024000	0.19004	0.020000	0.16555	0.014000	0.08584	1.448000	0.35112	2.527000	0.85204	0.600000	0.82982	ACC	-	pfscan_MAGE		0.517	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	protein_coding	OTTHUMT00000056120.1	C	NM_173699	-		26157983	1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	SNP	0.019	T	T	26157983	C	T	26157983	3	4	196	1	0	0	0	0	1	0	0	0	9177	507	18	2	883	2	MAGEB18	23	26157983	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4282411	26157983	129112577	2312	15584											
MAGEB10	139422	genome.wustl.edu	37	chrX	27839441	27839441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcatgcctcgaggtcagaaGagtaaactccgtgccaggga	12	10	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:27839441G>A	ENST00000356790.2	+	3	263	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	6				K -> E (in Ref. 1; BAB71522). {ECO:0000305}.						NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GAGGTCAGAAGAGTAAACTCC	0.527																																																	0								ENSG00000177689						50	50	50					X																	27839441		2202	4300	6502	MAGEB10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.18G>A	X.37:g.27839441G>A		Somatic	0	17	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	Q494Y6|Q494Y7|Q9BZ78	Silent	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K6	ENST00000356790.2	37	c.18	CCDS35221.1	X																																																																																			-	pfam_Melanoma_ass_antigen_N		0.527	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	protein_coding	OTTHUMT00000106216.1	G	NM_182506	-		27839441	1	no_errors	ENST00000356790	ensembl	human	known	74_37	silent	SNP	0.015	A	A	27839441	G	A	27839441	2	1	196	1	0	0	0	0	0	0	0	1	9175	933	33	2		2	MAGEB10	23	27839441	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1681458	27839441	127431119	2313	15585											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29959898	29959898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcattttggagctgaAgagctcgatggaggtaggat	15	4	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:29959898A>G	ENST00000378993.1	+	9	1861	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E	IL1RAPL1_ENST00000302196.4_Silent_p.E396E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	396					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGGAGCTGAAGAGCTCGATG	0.373																																																	0								ENSG00000169306						161	131	141					X																	29959898		2202	4300	6502	IL1RAPL1	SO:0001819	synonymous_variant	0			-	HGNC	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1188A>G	X.37:g.29959898A>G		Somatic	0	37	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	A0AVG4|Q9UJ53	Silent	SNP							pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.E396	ENST00000378993.1	37	c.1188	CCDS14218.1	X																																																																																			-	superfamily_TIR_dom		0.373	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	protein_coding	OTTHUMT00000056155.1	A	NM_014271	-		29959898	1	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	SNP	0.997	G	G	29959898	A	G	29959898	2	3	196	1	0	0	0	0	0	0	0	1	7663	69	3	5		5	IL1RAPL1	23	29959898	Silent	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	2120457	29959898	125310662	2314	15586											
DMD	1756	genome.wustl.edu	37	chrX	31462633	31462633	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggtgttcaggtcttccaGagtgctgaggttatacggtg	14	7	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:31462633G>A	ENST00000357033.4	-	60	9255	c.9049C>T	c.(9049-9051)Ctg>Ttg	p.L3017L	DMD_ENST00000343523.2_Silent_p.L557L|DMD_ENST00000541735.1_Silent_p.L557L|DMD_ENST00000378707.3_Silent_p.L557L|DMD_ENST00000378677.2_Silent_p.L3013L|DMD_ENST00000359836.1_Silent_p.L557L|DMD_ENST00000474231.1_Silent_p.L557L	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	3017					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)				AGGTCTTCCAGAGTGCTGAGG	0.428																																																	0								ENSG00000198947						146	119	128					X																	31462633		2202	4300	6502	DMD	SO:0001819	synonymous_variant	0			-	HGNC	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.9049C>T	X.37:g.31462633G>A		Somatic	0	60	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	23	61.67	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L3017	ENST00000357033.4	37	c.9049	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	8.408	0.843616	0.16963	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	T	0.68742	0.3034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66806	-0.5830	4	.	.	.	.	12.8253	0.57716	0.0833:0.0:0.9167:0.0	.	.	.	.	F	745	.	.	S	-	2	0	DMD	31372554	0.991000	0.36638	0.712000	0.30502	0.863000	0.49368	1.451000	0.35145	1.072000	0.40860	0.538000	0.68166	TCT	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006	-		31462633	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	SNP	0.931	A	A	31462633	G	A	31462633	2	1	196	1	0	0	0	0	0	0	0	1	4582	933	33	2		2	DMD	23	31462633	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1502735	31462633	123807927	2315	15587											
FAM47B	170062	genome.wustl.edu	37	chrX	34961452	34961452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggctcgttgtgaggcCcgggagaagacaaccgaggt	17	9	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:34961452C>T	ENST00000329357.5	+	1	540	c.504C>T	c.(502-504)gcC>gcT	p.A168A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	168										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						GTTGTGAGGCCCGGGAGAAGA	0.597																																																	0								ENSG00000189132						39	37	37					X																	34961452		2202	4300	6502	FAM47B	SO:0001819	synonymous_variant	0			-	HGNC	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.504C>T	X.37:g.34961452C>T		Somatic	0	49	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	66	38.32	Q5JQN5|Q6PIG3	Silent	SNP							NULL	p.A168	ENST00000329357.5	37	c.504	CCDS14236.1	X																																																																																			-	NULL		0.597	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	C	NM_152631	-		34961452	1	no_errors	ENST00000329357	ensembl	human	known	74_37	silent	SNP	0.001	T	T	34961452	C	T	34961452	2	4	196	1	0	0	0	0	0	0	0	1	5572	610	22	2		2	FAM47B	23	34961452	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	3498819	34961452	120309108	2316	15588											
SRPX	8406	genome.wustl.edu	37	chrX	38033465	38033465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgactggcagatcagtagGgaagagccatgcagctcgta	13	8	1	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:38033465G>A	ENST00000378533.3	-	3	403	c.297C>T	c.(295-297)tcC>tcT	p.S99S	SRPX_ENST00000343800.6_Silent_p.S86S|SRPX_ENST00000538295.1_Silent_p.S99S|SRPX_ENST00000432886.2_Silent_p.S99S|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Silent_p.S79S	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	99	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						AGATCAGTAGGGAAGAGCCAT	0.547																																																	0								ENSG00000101955						155	114	128					X																	38033465		2202	4300	6502	SRPX	SO:0001819	synonymous_variant	0			-	HGNC	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.297C>T	X.37:g.38033465G>A		Somatic	0	28	0		0.52429534266604	0	100	242	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	15	70.59	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP							pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.S99	ENST00000378533.3	37	c.297	CCDS14245.1	X																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.547	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	G	NM_006307	-		38033465	-1	no_errors	ENST00000378533	ensembl	human	known	74_37	silent	SNP	0.855	A	A	38033465	G	A	38033465	2	1	196	1	0	0	0	0	0	0	0	1	15171	1219	43	2		2	SRPX	23	38033465	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3072013	38033465	117237095	2317	15589											
TIMP1	7076	genome.wustl.edu	37	chrX	47446025	47446025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcttccagtcccgtcacCttgcctgcctgcctcgggag	12	16	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:47446025C>T	ENST00000218388.4	+	6	729	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	SYN1_ENST00000340666.4_Intron|MIR4769_ENST00000584126.1_RNA|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Missense_Mutation_p.L123F	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	187					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GTCCCGTCACCTTGCCTGCCT	0.607																																																	0								ENSG00000102265						95	73	81					X																	47446025		2203	4300	6503	TIMP1	SO:0001583	missense	0			-	HGNC		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.559C>T	X.37:g.47446025C>T	ENSP00000218388:p.Leu187Phe	Somatic	0	12	0		0.52429534266604	5938	43.57	4594	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	Q14252|Q9UCU1	Missense_Mutation	SNP							pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.L187F	ENST00000218388.4	37	c.559	CCDS14281.1	X	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735240	0.30774	.	.	ENSG00000102265	ENST00000218388;ENST00000377017	D;D	0.94000	-3.33;-3.33	5.23	3.42	0.39159	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.422265	0.20281	N	0.095453	T	0.82019	0.4946	N	0.13235	0.315	0.80722	D	1	B	0.32031	0.352	B	0.27076	0.076	T	0.74150	-0.3758	10	0.10902	T	0.67	.	5.9964	0.19497	0.0:0.762:0.0:0.238	.	187	P01033	TIMP1_HUMAN	F	187;123	ENSP00000218388:L187F;ENSP00000366216:L123F	ENSP00000218388:L187F	L	+	1	0	TIMP1	47330969	0.701000	0.27806	0.995000	0.50966	0.974000	0.67602	1.461000	0.35255	0.969000	0.38237	0.523000	0.50628	CTT	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP		0.607	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP1	protein_coding	OTTHUMT00000056423.1	C	NM_003254	-		47446025	1	no_errors	ENST00000218388	ensembl	human	known	74_37	missense	SNP	0.927	T	T	47446025	C	T	47446025	3	4	196	1	0	0	0	0	1	0	0	0	15924	681	24	2	577	2	TIMP1	23	47446025	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	9412560	47446025	107824535	2318	15590											
SLC38A5	92745	genome.wustl.edu	37	chrX	48318260	48318260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctgcagggcccggcgGatctgtggccagagtagggt	18	10	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:48318260G>A	ENST00000376876.3	-	14	1914	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	SLC38A5_ENST00000376875.1_Silent_p.I306I|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Silent_p.I357I			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	357					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GGGCCCGGCGGATCTGTGGCC	0.587																																																	0								ENSG00000017483						35	29	31					X																	48318260		2203	4300	6503	SLC38A5	SO:0001819	synonymous_variant	0			-	HGNC	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1071C>T	X.37:g.48318260G>A		Somatic	0	21	0		0.52429534266604	12	88.89	96	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	8	76.47	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP							pfam_AA_transpt_TM	p.I357	ENST00000376876.3	37	c.1071	CCDS14293.1	X																																																																																			-	pfam_AA_transpt_TM		0.587	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	G	NM_033518	-		48318260	-1	no_errors	ENST00000317669	ensembl	human	known	74_37	silent	SNP	0.985	A	A	48318260	G	A	48318260	2	1	196	1	0	0	0	0	0	0	0	1	14615	1164	41	2		2	SLC38A5	23	48318260	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	872235	48318260	106952300	2319	15591											
IQSEC2	23096	genome.wustl.edu	37	chrX	53268415	53268415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgcatttccacgaggGggaaagactgacggaaactg	14	8	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:53268415G>A	ENST00000375368.5	-	10	3247	c.3047C>T	c.(3046-3048)cCc>cTc	p.P1016L	IQSEC2_ENST00000396435.3_Missense_Mutation_p.P1026L|IQSEC2_ENST00000375365.2_Missense_Mutation_p.P821L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1016	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TTCCACGAGGGGGAAAGACTG	0.507											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000124313						114	103	107					X																	53268415		2203	4300	6503	IQSEC2	SO:0001583	missense	0			-	HGNC	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3047C>T	X.37:g.53268415G>A	ENSP00000364517:p.Pro1016Leu	Somatic	0	63	0	991	0.52429534266604	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	25	73.12	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP							pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.P1026L	ENST00000375368.5	37	c.3077		X	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950090	0.92660	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.41065	1.01;1.01;1.01	5.61	5.61	0.85477	.	0.167225	0.53938	N	0.000056	T	0.55369	0.1916	L	0.47716	1.5	0.80722	D	1	B;D	0.67145	0.111;0.996	B;P	0.59948	0.065;0.866	T	0.54330	-0.8310	10	0.49607	T	0.09	.	17.3444	0.87306	0.0:0.0:1.0:0.0	.	1026;821	Q5JU85-2;Q5JU85-3	.;.	L	1026;1016;821	ENSP00000379712:P1026L;ENSP00000364517:P1016L;ENSP00000364514:P821L	ENSP00000364514:P821L	P	-	2	0	IQSEC2	53285140	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.863000	0.62983	2.363000	0.80096	0.511000	0.50034	CCC	-	smart_Pleckstrin_homology		0.507	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	protein_coding		G	XM_291345	-		53268415	-1	no_errors	ENST00000396435	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53268415	G	A	53268415	3	1	196	1	0	0	0	0	1	0	0	0	7820	1232	43	2	1409	2	IQSEC2	23	53268415	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	4950155	53268415	102002145	2320	15592											
HEPH	9843	genome.wustl.edu	37	chrX	65390509	65390509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtctactacctgggcatcCgggatgtgcagtggaactat	13	9	1	0	rs201897918		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:65390509C>T	ENST00000343002.2	+	1	761	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	HEPH_ENST00000336279.5_Intron|HEPH_ENST00000519389.1_Missense_Mutation_p.R87W|HEPH_ENST00000419594.1_Missense_Mutation_p.R36W|HEPH_ENST00000441993.2_Missense_Mutation_p.R36W|HEPH_ENST00000374727.3_Missense_Mutation_p.R36W			Q9BQS7	HEPH_HUMAN	hephaestin	33	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTGGGCATCCGGGATGTGCA	0.532																																																	0								ENSG00000089472						96	66	76					X																	65390509		2203	4300	6503	HEPH	SO:0001583	missense	0			-	HGNC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.97C>T	X.37:g.65390509C>T	ENSP00000343939:p.Arg33Trp	Somatic	0	31	0		0.52429534266604	2	60	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP							pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.R87W	ENST00000343002.2	37	c.259		X	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920180	0.52653	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.01	5.01	0.66863	Cupredoxin (2);	0.969671	0.08495	N	0.937426	D	0.98093	0.9371	L	0.54323	1.7	0.21147	N	0.999774	D;P;D	0.62365	0.991;0.912;0.977	P;B;P	0.44860	0.462;0.17;0.462	D	0.94714	0.7895	10	0.66056	D	0.02	.	13.9431	0.64069	0.0:1.0:0.0:0.0	.	87;36;33	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	W	87;36;33;36;36;33;33	ENSP00000430620:R87W;ENSP00000363859:R36W;ENSP00000396907:R33W;ENSP00000411687:R36W;ENSP00000413211:R36W;ENSP00000343939:R33W;ENSP00000398078:R33W	ENSP00000343939:R33W	R	+	1	2	HEPH	65307234	0.780000	0.28664	0.802000	0.32245	0.953000	0.61014	1.790000	0.38734	2.308000	0.77769	0.513000	0.50165	CGG	-	superfamily_Cupredoxin		0.532	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	protein_coding	OTTHUMT00000056995.1	C	NM_138737	rs201897918		65390509	1	no_errors	ENST00000519389	ensembl	human	known	74_37	missense	SNP	0.795	T	T	65390509	C	T	65390509	3	4	196	1	0	0	0	0	1	0	0	0	7056	643	23	1	265	1	HEPH	23	65390509	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	12122094	65390509	89880051	2321	15593											
AWAT2	158835	genome.wustl.edu	37	chrX	69261811	69261811	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcattggtagaggctccccGactgccaggggagacagtga	16	10	0	3			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:69261811G>A	ENST00000276101.3	-	7	854	c.849C>T	c.(847-849)gtC>gtT	p.V283V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	283					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GAGGCTCCCCGACTGCCAGGG	0.502																																					NSCLC(80;1334 1436 9350 24214 26427)												0								ENSG00000147160						95	74	82					X																	69261811		2203	4300	6503	AWAT2	SO:0001630	splice_region_variant	0			-	HGNC	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.848-1C>T	X.37:g.69261811G>A		Somatic	0	21	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	3	85.00	Q6IEE3|Q6P437	Silent	SNP							pfam_DAGAT	p.V283	ENST00000276101.3	37	c.849	CCDS35320.1	X																																																																																			-	pfam_DAGAT		0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	protein_coding	OTTHUMT00000358738.1	G	NM_001002254	-	Silent	69261811	-1	no_errors	ENST00000276101	ensembl	human	known	74_37	silent	SNP	0.660	A	A	69261811	G	A	69261811	5	1	196	1	0	0	0	0	0	0	1	0	1235	1072	37	1	156	1	AWAT2	23	69261811	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3871302	69261811	86008749	2322	15594											
GDPD2	54857	genome.wustl.edu	37	chrX	69647166	69647166	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accccttgtgccctcagctcCgatggggtccccttcctcat	8	18	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:69647166C>G	ENST00000374382.3	+	10	1040	c.789C>G	c.(787-789)tcC>tcG	p.S263S	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Silent_p.S184S|GDPD2_ENST00000538649.1_Silent_p.S184S|GDPD2_ENST00000453994.2_Silent_p.S263S	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	263	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCCTCAGCTCCGATGGGGTCC	0.592																																																	0								ENSG00000130055						67	51	56					X																	69647166		2203	4300	6503	GDPD2	SO:0001819	synonymous_variant	0			-	HGNC	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.789C>G	X.37:g.69647166C>G		Somatic	0	19	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP							pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S263	ENST00000374382.3	37	c.789	CCDS14402.1	X																																																																																			-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl		0.592	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	C	NM_017711	-		69647166	1	no_errors	ENST00000453994	ensembl	human	known	74_37	silent	SNP	0.043	G	G	69647166	C	G	69647166	2	3	196	1	0	0	0	0	0	0	0	1	6326	639	23	4		4	GDPD2	23	69647166	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	385355	69647166	85623394	2323	15595											
ZMYM3	9203	genome.wustl.edu	37	chrX	70469918	70469918	+	Silent	SNP	G	G	A													ctgcagcgagtagcgtcggcGggatccccagactgggggat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70469918G>A	ENST00000353904.2	-	6	1396	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	ZMYM3_ENST00000314425.5_Silent_p.P403P|ZMYM3_ENST00000373988.1_Silent_p.P405P|ZMYM3_ENST00000373984.3_Silent_p.P405P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Silent_p.P403P|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P307L|ZMYM3_ENST00000373982.1_Silent_p.P405P|ZMYM3_ENST00000373981.1_Silent_p.P403P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	403					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TAGCGTCGGCGGGATCCCCAG	0.617																																																	0								ENSG00000147130						35	32	33					X																	70469918		2203	4300	6503	ZMYM3	SO:0001819	synonymous_variant	0			-	HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1209C>T	X.37:g.70469918G>A		Somatic	0	26	0		0.52429534266604	3	78.57	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	16	68.00	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP							NULL	p.P307L	ENST00000353904.2	37	c.920	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.390933	0.00200	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.15	-8.3	0.01005	.	0.484198	0.19071	N	0.123506	T	0.06188	0.0160	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.32268	-0.9913	6	0.02654	T	1	-2.1079	1.5611	0.02595	0.2706:0.0846:0.2804:0.3644	.	.	.	.	L	307	.	ENSP00000363090:P307L	P	-	2	0	ZMYM3	70386643	0.001000	0.12720	0.058000	0.19502	0.857000	0.48899	-1.199000	0.03032	-2.817000	0.00345	-0.366000	0.07423	CCG	-	NULL		0.617	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	G	NM_201599	-		70469918	-1	no_errors	ENST00000373978	ensembl	human	known	74_37	missense	SNP	0.000	A	A	70469918	G	A	70469918	2	1	196	1	0	0	0	0	0	0	0	1	17708	1103	39	1		1	ZMYM3	23	70469918	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	822752	70469918	84800642	2324	15596	389	2									
ZMYM3	9203	genome.wustl.edu	37	chrX	70469919	70469919	+	Missense_Mutation	SNP	G	G	A													tgcagcgagtagcgtcggcgGgatccccagactgggggatc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70469919G>A	ENST00000353904.2	-	6	1395	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	ZMYM3_ENST00000314425.5_Missense_Mutation_p.P403L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P405L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P405L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P403L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P307S|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P405L|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P403L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	403					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGTCGGCGGGATCCCCAGA	0.617																																																	0								ENSG00000147130						37	34	35					X																	70469919		2203	4300	6503	ZMYM3	SO:0001583	missense	0			-	HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1208C>T	X.37:g.70469919G>A	ENSP00000343909:p.Pro403Leu	Somatic	0	25	0		0.52429534266604	2	84.62	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	16	68.63	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.P405L	ENST00000353904.2	37	c.1214	CCDS14409.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.444|9.444	1.088781|1.088781	0.20390|0.20390	.|.	.|.	ENSG00000147130|ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981|ENST00000373978	T;T;T;T;T;T;T|.	0.48836|.	1.49;0.9;1.49;1.49;1.49;0.8;0.8|.	4.26|4.26	3.4|3.4	0.38934|0.38934	.|.	0.484198|0.484198	0.19071|0.19071	N|N	0.123506|0.123506	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999998|0.999998	P;P;B;B|.	0.39352|.	0.669;0.669;0.007;0.008|.	B;B;B;B|.	0.34931|.	0.192;0.192;0.004;0.007|.	T|T	0.13124|0.13124	-1.0521|-1.0521	10|7	0.27785|0.37606	T|T	0.31|0.19	-2.1079|-2.1079	7.5585|7.5585	0.27837|0.27837	0.092:0.1617:0.7464:0.0|0.092:0.1617:0.7464:0.0	.|.	405;403;403;403|.	A6NL54;Q96E26;Q14202-2;Q14202|.	.;.;.;ZMYM3_HUMAN|.	L|S	403;403;403;405;405;405;403|307	ENSP00000322845:P403L;ENSP00000363110:P403L;ENSP00000343909:P403L;ENSP00000363096:P405L;ENSP00000363100:P405L;ENSP00000363094:P405L;ENSP00000363093:P403L|.	ENSP00000322845:P403L|ENSP00000363090:P307S	P|P	-|-	2|1	0|0	ZMYM3|ZMYM3	70386644|70386644	0.964000|0.964000	0.33143|0.33143	0.681000|0.681000	0.30009|0.30009	0.891000|0.891000	0.51852|0.51852	2.125000|2.125000	0.42016|0.42016	0.813000|0.813000	0.34350|0.34350	0.468000|0.468000	0.43344|0.43344	CCC|CCG	-	NULL		0.617	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	G	NM_201599	-		70469919	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	SNP	0.047	A	A	70469919	G	A	70469919	3	1	196	1	0	0	0	0	1	0	0	0	17708	1232	43	2	3002	2	ZMYM3	23	70469919	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	70469919	84800641	2325	15597	389	2									
TAF1	6872	genome.wustl.edu	37	chrX	70595092	70595092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctccacctccaccccCgggaccaatgaagaaggata	8	17	0	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70595092C>T	ENST00000373790.4	+	4	539	c.488C>T	c.(487-489)cCg>cTg	p.P163L	TAF1_ENST00000449580.1_Missense_Mutation_p.P163L|TAF1_ENST00000276072.3_Missense_Mutation_p.P163L|TAF1_ENST00000423759.1_Missense_Mutation_p.P163L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	163	Pro-rich.|Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P163L(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTCCACCCCCGGGACCAATG	0.423																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000147133						128	109	115					X																	70595092		2203	4300	6503	TAF1	SO:0001583	missense	0			-	HGNC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.488C>T	X.37:g.70595092C>T	ENSP00000362895:p.Pro163Leu	Somatic	0	86	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	27	70.33	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P163L	ENST00000373790.4	37	c.488	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	13.75	2.330195	0.41297	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09350	2.99;3.05;3.06;3.01	5.04	3.28	0.37604	.	0.187360	0.46442	N	0.000286	T	0.07683	0.0193	L	0.41236	1.265	0.46823	D	0.99921	B;P	0.40931	0.008;0.733	B;B	0.31495	0.002;0.131	T	0.34527	-0.9825	10	0.27082	T	0.32	.	11.0251	0.47741	0.0:0.8434:0.0:0.1566	.	163;163	P21675;P21675-2	TAF1_HUMAN;.	L	163	ENSP00000362895:P163L;ENSP00000389000:P163L;ENSP00000406549:P163L;ENSP00000276072:P163L	ENSP00000276072:P163L	P	+	2	0	TAF1	70511817	0.078000	0.21339	0.934000	0.37439	0.911000	0.54048	3.423000	0.52756	0.467000	0.27218	-0.511000	0.04467	CCG	-	pirsf_TAF1_animal		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	C	NM_004606	-		70595092	1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	SNP	0.965	T	T	70595092	C	T	70595092	3	4	196	1	0	0	0	0	1	0	0	0	15520	652	23	1	502	1	TAF1	23	70595092	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	125173	70595092	84675468	2326	15598											
OGT	8473	genome.wustl.edu	37	chrX	70775130	70775130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtatactatgagcaaggCctgatagatctggcaataga	11	6	1	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70775130C>T	ENST00000373719.3	+	7	1036	c.819C>T	c.(817-819)ggC>ggT	p.G273G	OGT_ENST00000373701.3_Silent_p.G263G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	273					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGAGCAAGGCCTGATAGATC	0.483																																																	0								ENSG00000147162						119	90	100					X																	70775130		2203	4300	6503	OGT	SO:0001819	synonymous_variant	0			-	HGNC	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.819C>T	X.37:g.70775130C>T		Somatic	0	26	0		0.52429534266604	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	10	78.26	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G273	ENST00000373719.3	37	c.819	CCDS14414.1	X																																																																																			-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.483	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	protein_coding	OTTHUMT00000081829.3	C	NM_003605, NM_181672	-		70775130	1	no_errors	ENST00000373719	ensembl	human	known	74_37	silent	SNP	0.999	T	T	70775130	C	T	70775130	2	4	196	1	0	0	0	0	0	0	0	1	10849	726	26	2		2	OGT	23	70775130	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	180038	70775130	84495430	2327	15599											
OGT	8473	genome.wustl.edu	37	chrX	70787568	70787568	+	Silent	SNP	C	C	T													cacaccacagggatggatgtCctctgggcagggacccccat							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70787568C>T	ENST00000373719.3	+	20	3025	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	OGT_ENST00000373701.3_Silent_p.V926V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	936					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGATGGATGTCCTCTGGGCAG	0.522																																																	0								ENSG00000147162						71	52	59					X																	70787568		2203	4300	6503	OGT	SO:0001819	synonymous_variant	0			-	HGNC	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2808C>T	X.37:g.70787568C>T		Somatic	0	20	0		0.52429534266604	10	89.47	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	16	51.52	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V936	ENST00000373719.3	37	c.2808	CCDS14414.1	X																																																																																			-	NULL		0.522	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	protein_coding	OTTHUMT00000081829.3	C	NM_003605, NM_181672	-		70787568	1	no_errors	ENST00000373719	ensembl	human	known	74_37	silent	SNP	1.000	T	T	70787568	C	T	70787568	2	4	196	1	0	0	0	0	0	0	0	1	10849	842	30	2		2	OGT	23	70787568	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	12438	70787568	84482992	2328	15600	390	2									
OGT	8473	genome.wustl.edu	37	chrX	70787569	70787569	+	Missense_Mutation	SNP	C	C	T													acaccacagggatggatgtcCtctgggcagggacccccatg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70787569C>T	ENST00000373719.3	+	20	3026	c.2809C>T	c.(2809-2811)Ctc>Ttc	p.L937F	OGT_ENST00000373701.3_Missense_Mutation_p.L927F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	937					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GATGGATGTCCTCTGGGCAGG	0.517																																																	0								ENSG00000147162						70	52	58					X																	70787569		2203	4300	6503	OGT	SO:0001583	missense	0			-	HGNC	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2809C>T	X.37:g.70787569C>T	ENSP00000362824:p.Leu937Phe	Somatic	0	19	0		0.52429534266604	10	89.58	86	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	50.00	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L937F	ENST00000373719.3	37	c.2809	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251952	0.80135	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	D;D	0.87179	-2.22;-2.22	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.97274	0.9913	10	0.62326	D	0.03	-6.1297	17.3502	0.87321	0.0:1.0:0.0:0.0	.	811;927;937	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	F	937;927	ENSP00000362824:L937F;ENSP00000362805:L927F	ENSP00000362805:L927F	L	+	1	0	OGT	70704294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.906000	0.69900	2.279000	0.76181	0.544000	0.68410	CTC	-	NULL		0.517	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	protein_coding	OTTHUMT00000081829.3	C	NM_003605, NM_181672	-		70787569	1	no_errors	ENST00000373719	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70787569	C	T	70787569	3	4	196	1	0	0	0	0	1	0	0	0	10849	681	24	2	2887	2	OGT	23	70787569	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1	70787569	84482991	2329	15601	390	2									
PHKA1	5255	genome.wustl.edu	37	chrX	71813108	71813108	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacccactacttggagtcAtagaggttccaggtgacttg	12	9	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:71813108A>T	ENST00000373542.4	-	29	3248	c.3089T>A	c.(3088-3090)aTg>aAg	p.M1030K	PHKA1_ENST00000373539.3_Missense_Mutation_p.M1047K|PHKA1_ENST00000373545.3_Missense_Mutation_p.M988K|PHKA1_ENST00000339490.3_Missense_Mutation_p.M1017K|PHKA1_ENST00000541944.1_Missense_Mutation_p.M958K	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1030					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACTTGGAGTCATAGAGGTTCC	0.413																																																	0								ENSG00000067177						72	63	66					X																	71813108		2203	4300	6503	PHKA1	SO:0001583	missense	0			-	HGNC		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3089T>A	X.37:g.71813108A>T	ENSP00000362643:p.Met1030Lys	Somatic	0	68	0		0.52429534266604	0	100	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	22	74.12	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.M1047K	ENST00000373542.4	37	c.3140	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	A	0.403	-0.917063	0.02415	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90324	-2.6;-2.65;-2.62;-2.6;-2.6	5.05	5.05	0.67936	.	0.724385	0.12904	N	0.429553	D	0.82351	0.5018	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.11329	0.0;0.004;0.006;0.0	T	0.68815	-0.5309	10	0.25751	T	0.34	6.0E-4	11.7406	0.51790	1.0:0.0:0.0:0.0	.	958;988;1017;1030	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	K	988;1030;958;1017;1047	ENSP00000362646:M988K;ENSP00000362643:M1030K;ENSP00000441251:M958K;ENSP00000342469:M1017K;ENSP00000362640:M1047K	ENSP00000342469:M1017K	M	-	2	0	PHKA1	71729833	0.011000	0.17503	0.040000	0.18447	0.924000	0.55760	2.519000	0.45546	1.673000	0.50895	0.481000	0.45027	ATG	-	NULL		0.413	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	protein_coding	OTTHUMT00000058896.1	A		-		71813108	-1	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	SNP	0.003	T	T	71813108	A	T	71813108	3	4	196	1	0	0	0	0	1	0	0	0	11845	217	8	5	598	5	PHKA1	23	71813108	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	1025539	71813108	83457452	2330	15602											
ATP7A	538	genome.wustl.edu	37	chrX	77245339	77245339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagccaggtgtaaaatcCatacgagtctcccttgcaaa	7	10	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:77245339C>T	ENST00000341514.6	+	4	1376	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.S407S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	407	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTGTAAAATCCATACGAGTCT	0.418																																																	0								ENSG00000165240						126	116	119					X																	77245339		2203	4296	6499	ATP7A	SO:0001819	synonymous_variant	0			-	HGNC	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1221C>T	X.37:g.77245339C>T		Somatic	0	46	0		0.52429534266604	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	36	40.98	B1AT72|O00227|O00745|Q9BYY8	Silent	SNP							pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.S407	ENST00000341514.6	37	c.1221	CCDS35339.1	X																																																																																			-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	protein_coding	OTTHUMT00000057306.1	C	NM_000052	-		77245339	1	no_errors	ENST00000341514	ensembl	human	known	74_37	silent	SNP	0.876	T	T	77245339	C	T	77245339	2	4	196	1	0	0	0	0	0	0	0	1	1190	581	21	2		2	ATP7A	23	77245339	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5432231	77245339	78025221	2331	15603											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77913318	77913318	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggctgctgagagttctagGaattcctgggcatttgaagg	15	6	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:77913318G>A	ENST00000321110.1	-	2	895	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	200							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGAGTTCTAGGAATTCCTGGG	0.547																																																	0								ENSG00000179300						37	38	38					X																	77913318		2203	4300	6503	ZCCHC5	SO:0001819	synonymous_variant	0			-	HGNC	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.600C>T	X.37:g.77913318G>A		Somatic	0	62	0		0.52429534266604	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	50	38.27	B2RMZ0|Q5JQE9	Silent	SNP							pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F200	ENST00000321110.1	37	c.600	CCDS14440.1	X																																																																																			-	NULL		0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	protein_coding	OTTHUMT00000057319.1	G	NM_152694	-		77913318	-1	no_errors	ENST00000321110	ensembl	human	known	74_37	silent	SNP	0.562	A	A	77913318	G	A	77913318	2	1	196	1	0	0	0	0	0	0	0	1	17598	1165	41	2		2	ZCCHC5	23	77913318	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	667979	77913318	77357242	2332	15604											
TBX22	50945	genome.wustl.edu	37	chrX	79286459	79286459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagttgctcctttcatccttCctatgacttttatagataca	4	10	1	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:79286459C>T	ENST00000373294.5	+	8	1440	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TBX22_ENST00000442340.1_Missense_Mutation_p.S351F|TBX22_ENST00000373296.3_Missense_Mutation_p.S471F|TBX22_ENST00000373291.1_Missense_Mutation_p.S351F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	471					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTCATCCTTCCTATGACTTT	0.368																																																	0								ENSG00000122145						104	95	98					X																	79286459		2203	4300	6503	TBX22	SO:0001583	missense	0			-	HGNC	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1412C>T	X.37:g.79286459C>T	ENSP00000362390:p.Ser471Phe	Somatic	0	42	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	9	70.97	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S471F	ENST00000373294.5	37	c.1412	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472056	0.43942	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.87491	-2.26;-1.97;-2.26;-1.97	3.96	3.96	0.45880	.	1.390190	0.04482	N	0.377983	D	0.89276	0.6669	L	0.54323	1.7	0.29837	N	0.829568	P	0.49447	0.924	P	0.48030	0.564	T	0.80634	-0.1295	10	0.87932	D	0	.	13.8969	0.63778	0.0:1.0:0.0:0.0	.	471	Q9Y458	TBX22_HUMAN	F	471;351;471;351	ENSP00000362393:S471F;ENSP00000396394:S351F;ENSP00000362390:S471F;ENSP00000362388:S351F	ENSP00000362388:S351F	S	+	2	0	TBX22	79173115	1.000000	0.71417	0.677000	0.29947	0.277000	0.26821	5.462000	0.66707	1.813000	0.52934	0.513000	0.50165	TCC	-	NULL		0.368	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	protein_coding	OTTHUMT00000057334.1	C	NM_016954	-		79286459	1	no_errors	ENST00000373294	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79286459	C	T	79286459	3	4	196	1	0	0	0	0	1	0	0	0	15665	855	30	2	1442	2	TBX22	23	79286459	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1373141	79286459	75984101	2333	15605											
DIAPH2	1730	genome.wustl.edu	37	chrX	96213056	96213056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggaggagttcctcctcCcccaggaatatcacttaatc	7	14	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:96213056C>T	ENST00000324765.8	+	16	2191	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.P615L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P615L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P615L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P611L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	615	FH1.|Poly-Pro.				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)			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						GTTCCTCCTCCCCCAGGAATA	0.463																																																	0								ENSG00000147202						57	56	56					X																	96213056		2203	4300	6503	DIAPH2	SO:0001583	missense	0			-	HGNC	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.1844C>T	X.37:g.96213056C>T	ENSP00000321348:p.Pro615Leu	Somatic	0	56	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	28	61.84	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.P615L	ENST00000324765.8	37	c.1844	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671815	0.14776	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.02	1.2	0.21068	Actin-binding FH2 (1);	0.603893	0.16431	N	0.214702	T	0.29223	0.0727	M	0.78637	2.42	0.21861	N	0.999501	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.43147	-0.9409	10	0.08837	T	0.75	.	9.6174	0.39701	0.0:0.6135:0.0:0.3865	.	615;615	O60879;O60879-2	DIAP2_HUMAN;.	L	615;611;615;615;615;622	ENSP00000362152:P615L;ENSP00000362145:P611L;ENSP00000348082:P615L;ENSP00000362140:P615L;ENSP00000321348:P615L	ENSP00000321348:P615L	P	+	2	0	DIAPH2	96099712	0.028000	0.19301	0.000000	0.03702	0.001000	0.01503	1.076000	0.30729	-0.196000	0.10366	0.594000	0.82650	CCC	-	NULL		0.463	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309	-		96213056	1	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	SNP	0.173	T	T	96213056	C	T	96213056	3	4	196	1	0	0	0	0	1	0	0	0	4521	623	22	2	1906	2	DIAPH2	23	96213056	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	16926597	96213056	59057504	2334	15606											
NOX1	27035	genome.wustl.edu	37	chrX	100104375	100104375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacaggttgttgaaccagGaaaaggcacctgtctccctg	10	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:100104375G>A	ENST00000372966.3	-	11	1542	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.S409F|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	446	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTTGAACCAGGAAAAGGCACC	0.448																																																	0								ENSG00000007952						90	65	73					X																	100104375		2203	4300	6503	NOX1	SO:0001583	missense	0			-	HGNC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1337C>T	X.37:g.100104375G>A	ENSP00000362057:p.Ser446Phe	Somatic	0	46	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	20	59.18	A8K836|O95691|Q2PP02	Missense_Mutation	SNP							pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.S446F	ENST00000372966.3	37	c.1337	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860396	0.32884	.	.	ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957	D;D	0.95756	-3.8;-3.8	4.38	3.49	0.39957	Ferric reductase, NAD binding (1);	0.290279	0.32640	N	0.005827	D	0.92254	0.7543	L	0.34521	1.04	0.26650	N	0.972114	P;P	0.42941	0.794;0.64	B;B	0.43916	0.378;0.436	D	0.87958	0.2728	10	0.87932	D	0	-4.0075	11.052	0.47896	0.0963:0.0:0.9037:0.0	.	409;446	A6NGA6;Q9Y5S8	.;NOX1_HUMAN	F	446;409;135	ENSP00000362057:S446F;ENSP00000362051:S409F	ENSP00000362048:S135F	S	-	2	0	NOX1	99991031	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	2.968000	0.49224	2.015000	0.59207	0.544000	0.68410	TCC	-	pfam_Fe_red_NAD-bd_6		0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	protein_coding	OTTHUMT00000057495.1	G	NM_007052	-		100104375	-1	no_errors	ENST00000372966	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100104375	G	A	100104375	3	1	196	1	0	0	0	0	1	0	0	0	10558	1174	41	2	369	2	NOX1	23	100104375	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	3891319	100104375	55166185	2335	15607											
XKRX	402415	genome.wustl.edu	37	chrX	100177793	100177793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactcacctctacccaggGgaacctctgcagagatcagg	9	16	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:100177793G>A	ENST00000372956.2	-	2	1197	c.593C>T	c.(592-594)cCc>cTc	p.P198L	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000328526.5_Missense_Mutation_p.P211L			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCTACCCAGGGGAACCTCTGC	0.537																																																	0								ENSG00000182489						61	49	53					X																	100177793		2203	4300	6503	XKRX	SO:0001583	missense	0			-	HGNC	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.593C>T	X.37:g.100177793G>A	ENSP00000362047:p.Pro198Leu	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	16	68.63	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP							pfam_Transport_prot_XK	p.P211L	ENST00000372956.2	37	c.632	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424202	0.25639	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.62639	0.01;0.01	5.9	4.15	0.48705	.	0.269632	0.44097	D	0.000493	T	0.53400	0.1794	L	0.49350	1.555	0.51233	D	0.999914	B	0.10296	0.003	B	0.10450	0.005	T	0.42548	-0.9445	10	0.21540	T	0.41	-2.7645	11.1991	0.48730	0.1394:0.0:0.8606:0.0	.	198	Q6PP77	XKR2_HUMAN	L	211;198	ENSP00000327570:P211L;ENSP00000362047:P198L	ENSP00000327570:P211L	P	-	2	0	XKRX	100064449	0.992000	0.36948	0.990000	0.47175	0.788000	0.44548	3.471000	0.53107	0.638000	0.30545	0.600000	0.82982	CCC	-	pfam_Transport_prot_XK		0.537	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	protein_coding	OTTHUMT00000057501.3	G	NM_212559	-		100177793	-1	no_errors	ENST00000328526	ensembl	human	known	74_37	missense	SNP	0.633	A	A	100177793	G	A	100177793	3	1	196	1	0	0	0	0	1	0	0	0	17446	1232	43	2	764	2	XKRX	23	100177793	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	73418	100177793	55092767	2336	15608											
ZMAT1	84460	genome.wustl.edu	37	chrX	101139137	101139137	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttcctgtgtgtttctacaGagctatctcctatctttctg	7	10	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:101139137G>A	ENST00000372782.3	-	7	1309	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	ZMAT1_ENST00000458570.1_Missense_Mutation_p.S250F|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S421F|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	421						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGTTTCTACAGAGCTATCTCC	0.403																																																	0								ENSG00000166432						250	234	239					X																	101139137		2203	4300	6503	ZMAT1	SO:0001583	missense	0			-	HGNC	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1262C>T	X.37:g.101139137G>A	ENSP00000361868:p.Ser421Phe	Somatic	0	39	0		0.52429534266604	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58	Q8NDS3|Q96JN6	Missense_Mutation	SNP							superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.S421F	ENST00000372782.3	37	c.1262	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.571094	0.00895	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.25579	2.36;2.36;1.79	4.59	4.59	0.56863	.	0.148585	0.35495	N	0.003170	T	0.22513	0.0543	M	0.71036	2.16	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.43163	-0.9408	10	0.02654	T	1	-11.3637	9.0492	0.36365	0.0:0.0:0.7816:0.2184	.	421	Q5H9K5	ZMAT1_HUMAN	F	421;421;250	ENSP00000361868:S421F;ENSP00000437529:S421F;ENSP00000413044:S250F	ENSP00000361868:S421F	S	-	2	0	ZMAT1	101025793	0.057000	0.20700	0.060000	0.19600	0.020000	0.10135	1.315000	0.33608	2.508000	0.84585	0.600000	0.82982	TCT	-	NULL		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	protein_coding	OTTHUMT00000057598.1	G		-		101139137	-1	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	SNP	0.085	A	A	101139137	G	A	101139137	3	1	196	1	0	0	0	0	1	0	0	0	17698	942	33	2	658	2	ZMAT1	23	101139137	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	961344	101139137	54131423	2337	15609											
TCEAL5	340543	genome.wustl.edu	37	chrX	102529111	102529111	+	Silent	SNP	G	G	A													tcctcctgagagtccttgggGgaatcgtccgtccccctgtc							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:102529111G>A	ENST00000372680.1	-	3	675	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGTCCTTGGGGGAATCGTCCG	0.562																																																	0								ENSG00000204065						162	142	148					X																	102529111		2203	4300	6503	TCEAL5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.381C>T	X.37:g.102529111G>A		Somatic	0	45	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	15	71.70	A2RUJ4	Silent	SNP							pfam_TF_A-like/BEX-like	p.S127	ENST00000372680.1	37	c.381	CCDS35356.1	X																																																																																			-	pfam_TF_A-like/BEX-like		0.562	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL5	protein_coding	OTTHUMT00000057696.1	G	XM_291334	-		102529111	-1	no_errors	ENST00000372680	ensembl	human	known	74_37	silent	SNP	0.004	A	A	102529111	G	A	102529111	2	1	196	1	0	0	0	0	0	0	0	1	15681	1219	43	2		2	TCEAL5	23	102529111	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1389974	102529111	52741449	2338	15610	391	2									
TCEAL5	340543	genome.wustl.edu	37	chrX	102529112	102529112	+	Missense_Mutation	SNP	G	G	A													cctcctgagagtccttggggGaatcgtccgtccccctgtcg							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:102529112G>A	ENST00000372680.1	-	3	674	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GTCCTTGGGGGAATCGTCCGT	0.567																																																	0								ENSG00000204065						160	141	147					X																	102529112		2203	4300	6503	TCEAL5	SO:0001583	missense	0			-	HGNC		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.380C>T	X.37:g.102529112G>A	ENSP00000361765:p.Ser127Phe	Somatic	0	44	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	15	71.15	A2RUJ4	Missense_Mutation	SNP							pfam_TF_A-like/BEX-like	p.S127F	ENST00000372680.1	37	c.380	CCDS35356.1	X	.	.	.	.	.	.	.	.	.	.	G	8.726	0.915459	0.17907	.	.	ENSG00000204065	ENST00000372680	T	0.12569	2.67	2.93	1.07	0.20283	.	0.198091	0.25422	N	0.030786	T	0.26048	0.0635	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.08432	-1.0722	10	0.30854	T	0.27	.	3.5939	0.07998	0.1584:0.2589:0.5826:0.0	.	127	Q5H9L2	TCAL5_HUMAN	F	127	ENSP00000361765:S127F	ENSP00000361765:S127F	S	-	2	0	TCEAL5	102415768	0.997000	0.39634	0.002000	0.10522	0.263000	0.26337	1.322000	0.33689	0.159000	0.19401	0.292000	0.19580	TCC	-	pfam_TF_A-like/BEX-like		0.567	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL5	protein_coding	OTTHUMT00000057696.1	G	XM_291334	-		102529112	-1	no_errors	ENST00000372680	ensembl	human	known	74_37	missense	SNP	0.002	A	A	102529112	G	A	102529112	3	1	196	1	0	0	0	0	1	0	0	0	15681	1174	41	2	244	2	TCEAL5	23	102529112	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	102529112	52741448	2339	15611	391	2									
TEX13A	56157	genome.wustl.edu	37	chrX	104463704	104463704	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaagcaagtatccctccgtGaaaaattcacagcgttacac	7	12	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:104463704G>A	ENST00000413579.1	-	5	1283	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	391							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATCCCTCCGTGAAAAATTCAC	0.488																																																	0								ENSG00000133149						177	166	170					X																	104463704		2106	4207	6313	TEX13A	SO:0001583	missense	0			-	HGNC	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1172C>T	X.37:g.104463704G>A	ENSP00000399753:p.Ser391Leu	Somatic	0	30	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	17	69.09	B1B1G8|Q32NB6	Missense_Mutation	SNP							pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.S391L	ENST00000413579.1	37	c.1172		X	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308903	0.60305	.	.	ENSG00000133149	ENST00000413579	T	0.56444	0.46	3.41	3.41	0.39046	Zinc finger, RanBP2-type (4);	0.000000	0.30036	N	0.010579	T	0.71576	0.3356	M	0.84948	2.725	0.29812	N	0.831586	D	0.89917	1.0	D	0.87578	0.998	T	0.69183	-0.5212	10	0.87932	D	0	.	9.4677	0.38822	0.0:0.0:1.0:0.0	.	391	Q9BXU3	TX13A_HUMAN	L	391	ENSP00000399753:S391L	ENSP00000399753:S391L	S	-	2	0	TEX13A	104350360	1.000000	0.71417	0.945000	0.38365	0.626000	0.37791	3.429000	0.52800	1.977000	0.57605	0.436000	0.28706	TCA	-	pfam_Znf_RanBP2,pfscan_Znf_RanBP2		0.488	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	protein_coding		G	NM_031274	-		104463704	-1	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	SNP	0.947	A	A	104463704	G	A	104463704	3	1	196	1	0	0	0	0	1	0	0	0	15783	1290	45	2	61	2	TEX13A	23	104463704	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1934592	104463704	50806856	2340	15612											
IL1RAPL2	26280	genome.wustl.edu	37	chrX	105011099	105011099	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgctagtcagtggagaaatCaaagtgattttgattgagtg	12	3	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:105011099C>T	ENST00000372582.1	+	11	2262	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	IL1RAPL2_ENST00000344799.4_Silent_p.I502I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	502	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGAGAAATCAAAGTGATTT	0.403																																																	0								ENSG00000189108						93	90	91					X																	105011099		2203	4300	6503	IL1RAPL2	SO:0001819	synonymous_variant	0			-	HGNC	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1506C>T	X.37:g.105011099C>T		Somatic	0	40	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	17	72.58	Q2M3U3|Q9NZN0	Silent	SNP							pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.I502	ENST00000372582.1	37	c.1506	CCDS14517.1	X																																																																																			-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.403	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	protein_coding	OTTHUMT00000057785.1	C	NM_017416	-		105011099	1	no_errors	ENST00000344799	ensembl	human	known	74_37	silent	SNP	1.000	T	T	105011099	C	T	105011099	2	4	196	1	0	0	0	0	0	0	0	1	7664	816	29	2		2	IL1RAPL2	23	105011099	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	547395	105011099	50259461	2341	15613											
SERPINA7	6906	genome.wustl.edu	37	chrX	105279334	105279334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctattaagaagctggaaCtgtcttctgtcttggatgga	11	6	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:105279334C>T	ENST00000327674.4	-	2	1000	c.665G>A	c.(664-666)aGt>aAt	p.S222N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.S222N|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	222					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAAGCTGGAACTGTCTTCTGT	0.408																																																	0								ENSG00000123561						203	178	186					X																	105279334		2203	4300	6503	SERPINA7	SO:0001583	missense	0			-	HGNC	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.665G>A	X.37:g.105279334C>T	ENSP00000329374:p.Ser222Asn	Somatic	0	24	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	D3DUX1	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S222N	ENST00000327674.4	37	c.665	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	C	2.003	-0.428946	0.04701	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84589	-1.87;-1.87	4.41	2.62	0.31277	Serpin domain (3);	2.846680	0.01529	N	0.018730	T	0.77974	0.4211	L	0.33339	1.005	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.59289	-0.7482	10	0.22109	T	0.4	.	5.1894	0.15201	0.0:0.7354:0.0:0.2646	.	222	P05543	THBG_HUMAN	N	222	ENSP00000329374:S222N;ENSP00000361644:S222N	ENSP00000329374:S222N	S	-	2	0	SERPINA7	105165990	0.000000	0.05858	0.057000	0.19452	0.958000	0.62258	-0.304000	0.08199	0.983000	0.38602	0.594000	0.82650	AGT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	protein_coding	OTTHUMT00000057790.1	C	NM_000354	-		105279334	-1	no_errors	ENST00000327674	ensembl	human	known	74_37	missense	SNP	0.001	T	T	105279334	C	T	105279334	3	4	196	1	0	0	0	0	1	0	0	0	14102	565	20	2	594	2	SERPINA7	23	105279334	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	268235	105279334	49991226	2342	15614											
PAK3	5063	genome.wustl.edu	37	chrX	110366498	110366498	+	Missense_Mutation	SNP	G	G	A													ctctatcttcccaggaggagGggataaaagtaaagtatcag							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:110366498G>A	ENST00000372010.1	+	5	609	c.167G>A	c.(166-168)gGg>gAg	p.G56E	PAK3_ENST00000446737.1_Missense_Mutation_p.G56E|PAK3_ENST00000360648.4_Missense_Mutation_p.G56E|PAK3_ENST00000519681.1_Missense_Mutation_p.G56E|PAK3_ENST00000425146.1_Missense_Mutation_p.G56E|PAK3_ENST00000372007.5_Missense_Mutation_p.G56E|PAK3_ENST00000417227.1_Missense_Mutation_p.G56E|PAK3_ENST00000262836.4_Missense_Mutation_p.G56E|PAK3_ENST00000518291.1_Missense_Mutation_p.G56E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	56					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCAGGAGGAGGGGATAAAAGT	0.448										TSP Lung(19;0.15)																																							0								ENSG00000077264						68	66	67					X																	110366498		2203	4300	6503	PAK3	SO:0001583	missense	0			-	HGNC	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.167G>A	X.37:g.110366498G>A	ENSP00000361080:p.Gly56Glu	Somatic	0	16	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	13	64.86	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.G56E	ENST00000372010.1	37	c.167	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831844	0.32421	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.71222	-0.51;-0.51;-0.51;-0.55;-0.51;-0.52;-0.52;-0.55;-0.51	5.39	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	N	0.14661	0.345	0.46631	D	0.999134	B;B;B;B	0.19583	0.018;0.037;0.005;0.036	B;B;B;B	0.28011	0.042;0.085;0.019;0.042	T	0.41520	-0.9504	10	0.06625	T	0.88	.	12.4239	0.55536	0.083:0.0:0.917:0.0	.	56;56;56;56	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	E	56	ENSP00000410853:G56E;ENSP00000401982:G56E;ENSP00000361080:G56E;ENSP00000429113:G56E;ENSP00000361077:G56E;ENSP00000428921:G56E;ENSP00000353864:G56E;ENSP00000389172:G56E;ENSP00000262836:G56E	ENSP00000262836:G56E	G	+	2	0	PAK3	110253154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.862000	0.75484	1.154000	0.42482	0.600000	0.82982	GGG	-	NULL		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	protein_coding	OTTHUMT00000057918.1	G	NM_002578	-		110366498	1	no_errors	ENST00000360648	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110366498	G	A	110366498	3	1	196	1	0	0	0	0	1	0	0	0	11404	1232	43	2	169	2	PAK3	23	110366498	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	5087164	110366498	44904062	2343	15615	392	2									
PAK3	5063	genome.wustl.edu	37	chrX	110366499	110366499	+	Silent	SNP	G	G	A													tctatcttcccaggaggaggGgataaaagtaaagtatcagt							TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:110366499G>A	ENST00000372010.1	+	5	610	c.168G>A	c.(166-168)ggG>ggA	p.G56G	PAK3_ENST00000446737.1_Silent_p.G56G|PAK3_ENST00000360648.4_Silent_p.G56G|PAK3_ENST00000519681.1_Silent_p.G56G|PAK3_ENST00000425146.1_Silent_p.G56G|PAK3_ENST00000372007.5_Silent_p.G56G|PAK3_ENST00000417227.1_Silent_p.G56G|PAK3_ENST00000262836.4_Silent_p.G56G|PAK3_ENST00000518291.1_Silent_p.G56G			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	56					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGGAGGAGGGGATAAAAGTA	0.448										TSP Lung(19;0.15)																																							0								ENSG00000077264						67	65	66					X																	110366499		2203	4300	6503	PAK3	SO:0001819	synonymous_variant	0			-	HGNC	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.168G>A	X.37:g.110366499G>A		Somatic	0	17	0		0.52429534266604	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	13	63.89	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.G56	ENST00000372010.1	37	c.168	CCDS48153.1	X																																																																																			-	NULL		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	protein_coding	OTTHUMT00000057918.1	G	NM_002578	-		110366499	1	no_errors	ENST00000360648	ensembl	human	known	74_37	silent	SNP	1.000	A	A	110366499	G	A	110366499	2	1	196	1	0	0	0	0	0	0	0	1	11404	1219	43	2		2	PAK3	23	110366499	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1	110366499	44904061	2344	15616	392	2									
ALG13	79868	genome.wustl.edu	37	chrX	111002986	111002986	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttccgaatgctgattcttCatctgtccctcatggagcag	8	11	4	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:111002986C>T	ENST00000394780.3	+	27	3185	c.3173C>T	c.(3172-3174)tCa>tTa	p.S1058L	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.S875L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1058					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						GCTGATTCTTCATCTGTCCCT	0.423																																																	0								ENSG00000101901						85	60	68					X																	111002986		1568	3581	5149	ALG13	SO:0001583	missense	0			-	HGNC	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.3173C>T	X.37:g.111002986C>T	ENSP00000378260:p.Ser1058Leu	Somatic	0	25	0		0.52429534266604	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	13	56.67	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP							pfam_OTU,pfscan_OTU,pfscan_Tudor	p.S875L	ENST00000394780.3	37	c.2624	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	c	8.372	0.835587	0.16820	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.55234	1.56;0.53	5.8	3.02	0.34903	.	0.585543	0.16888	N	0.195438	T	0.23766	0.0575	N	0.03608	-0.345	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	0.20075	-1.0286	10	0.16896	T	0.51	-0.1579	5.7342	0.18057	0.0:0.6272:0.1378:0.235	.	980;1058;875	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	875;1058;612	ENSP00000251943:S875L;ENSP00000378260:S1058L	ENSP00000251943:S875L	S	+	2	0	ALG13	110889642	0.200000	0.23398	0.703000	0.30354	0.941000	0.58515	1.131000	0.31406	0.208000	0.20626	0.597000	0.82753	TCA	-	NULL		0.423	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	protein_coding	OTTHUMT00000272895.1	C	NM_018466	-		111002986	1	no_errors	ENST00000251943	ensembl	human	known	74_37	missense	SNP	0.007	T	T	111002986	C	T	111002986	3	4	196	1	0	0	0	0	1	0	0	0	515	838	29	2	3421	2	ALG13	23	111002986	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	636487	111002986	44267574	2345	15617											
ODZ1	10178	genome.wustl.edu	37	chrX	123699273	123699273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctacactcacattttcCatctttgcattggccatgct	7	12	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:123699273C>T	ENST00000371130.3	-	12	2278	c.2215G>A	c.(2215-2217)Gga>Aga	p.G739R	TENM1_ENST00000422452.2_Missense_Mutation_p.G739R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	739	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCACATTTTCCATCTTTGCAT	0.458																																																	0								ENSG00000009694						176	123	141					X																	123699273		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2215G>A	X.37:g.123699273C>T	ENSP00000360171:p.Gly739Arg	Somatic	0	32	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	9	76.32	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.G739R	ENST00000371130.3	37	c.2215	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539278	0.85917	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.25749	1.78;1.78	5.75	5.75	0.90469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.993	T	0.72666	-0.4224	10	0.87932	D	0	.	19.1633	0.93543	0.0:1.0:0.0:0.0	.	738;739;739	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	739	ENSP00000360171:G739R;ENSP00000403954:G739R	ENSP00000360171:G739R	G	-	1	0	ODZ1	123526954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.562000	0.86427	0.600000	0.82982	GGA	-	pfam_EGF_extracell,smart_EG-like_dom		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	C	NM_014253	-		123699273	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	T	T	123699273	C	T	123699273	3	4	196	1	0	0	0	0	1	0	0	0	10836	603	21	2	6067	2	ODZ1	23	123699273	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	12696287	123699273	31571287	2346	15618											
BCORL1	63035	genome.wustl.edu	37	chrX	129148782	129148782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtggcaatgtcacctcCtgcctgggctccacttcctc	10	17	1	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:129148782C>T	ENST00000218147.7	+	4	2231	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	BCORL1_ENST00000540052.1_Silent_p.S678S|BCORL1_ENST00000359304.2_Silent_p.S678S|BCORL1_ENST00000303743.5_Silent_p.S678S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	678					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						ATGTCACCTCCTGCCTGGGCT	0.602																																																	0								ENSG00000085185						71	59	63					X																	129148782		2203	4300	6503	BCORL1	SO:0001819	synonymous_variant	0			-	HGNC	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.2034C>T	X.37:g.129148782C>T		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S678	ENST00000218147.7	37	c.2034	CCDS14616.1	X																																																																																			-	NULL		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	C	NM_021946	-		129148782	1	no_errors	ENST00000303743	ensembl	human	known	74_37	silent	SNP	0.965	T	T	129148782	C	T	129148782	2	4	196	1	0	0	0	0	0	0	0	1	1387	668	24	2		2	BCORL1	23	129148782	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	5449509	129148782	26121778	2347	15619											
USP26	83844	genome.wustl.edu	37	chrX	132160344	132160344	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatacagattctagctcattTggtttagaattttttccaag	6	6	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:132160344T>A	ENST00000511190.1	-	6	2374	c.1905A>T	c.(1903-1905)ccA>ccT	p.P635P	USP26_ENST00000370832.1_Silent_p.P635P|USP26_ENST00000406273.1_Silent_p.P635P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	635	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTAGCTCATTTGGTTTAGAAT	0.393																																					NSCLC(104;342 1621 36940 47097 52632)												0								ENSG00000134588						94	79	84					X																	132160344		2203	4300	6503	USP26	SO:0001819	synonymous_variant	0			-	HGNC	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1905A>T	X.37:g.132160344T>A		Somatic	0	31	0		0.52429534266604	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	B9WRT6|Q5H9H4	Silent	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P635	ENST00000511190.1	37	c.1905	CCDS14635.1	X																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.393	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	protein_coding	OTTHUMT00000359441.1	T	NM_031907	-		132160344	-1	no_errors	ENST00000370832	ensembl	human	known	74_37	silent	SNP	0.000	A	A	132160344	T	A	132160344	2	1	196	1	0	0	0	0	0	0	0	1	17064	1799	63	5		5	USP26	23	132160344	Silent	SNP	T	TCGA-QC-A7B5-01A-11D-A33E-09	3011562	132160344	23110216	2348	15620											
SAGE1	55511	genome.wustl.edu	37	chrX	134990644	134990644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtttctagatgctaccGtcaatcaccatgtccatgaa	7	10	3	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:134990644G>A	ENST00000370709.3	+	11	1309	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I	SAGE1_ENST00000324447.3_Missense_Mutation_p.V437I|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.V437I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	437						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)					AGATGCTACCGTCAATCACCA	0.423																																																	0								ENSG00000181433						150	132	138					X																	134990644		2203	4299	6502	SAGE1	SO:0001583	missense	0			-	HGNC	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.1309G>A	X.37:g.134990644G>A	ENSP00000359743:p.Val437Ile	Somatic	0	27	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	5	72.22	Q5JNW0	Missense_Mutation	SNP							NULL	p.V437I	ENST00000370709.3	37	c.1309	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	2.724	-0.266008	0.05754	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.31769	1.48;1.48;1.48	1.6	0.692	0.18050	.	0.252635	0.33110	U	0.005262	T	0.07728	0.0194	N	0.04880	-0.145	0.09310	N	1	B	0.34214	0.442	B	0.20955	0.032	T	0.33394	-0.9870	10	0.05351	T	0.99	.	3.6238	0.08105	0.2646:0.0:0.7354:0.0	.	437	Q9NXZ1	SAGE1_HUMAN	I	437	ENSP00000323191:V437I;ENSP00000445959:V437I;ENSP00000359743:V437I	ENSP00000323191:V437I	V	+	1	0	SAGE1	134818310	0.011000	0.17503	0.001000	0.08648	0.005000	0.04900	0.961000	0.29267	0.155000	0.19261	0.263000	0.19301	GTC	-	NULL		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	protein_coding	OTTHUMT00000058448.1	G	NM_018666	-		134990644	1	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	SNP	0.001	A	A	134990644	G	A	134990644	3	1	196	1	0	0	0	0	1	0	0	0	13817	1145	40	1	1351	1	SAGE1	23	134990644	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2830300	134990644	20279916	2349	15621											
CD40LG	959	genome.wustl.edu	37	chrX	135730454	135730454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccgatctgcggccactgGactgcccatcagcatgaaaa	9	15	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:135730454G>A	ENST00000370629.2	+	1	103	c.47G>A	c.(46-48)gGa>gAa	p.G16E	CD40LG_ENST00000370628.2_Missense_Mutation_p.G16E	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	16					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GCGGCCACTGGACTGCCCATC	0.428									Immune Deficiency with Hyper-IgM																																								0								ENSG00000102245						157	147	150					X																	135730454		2203	4300	6503	CD40LG	SO:0001583	missense	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	-	HGNC	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.47G>A	X.37:g.135730454G>A	ENSP00000359663:p.Gly16Glu	Somatic	0	36	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	20	67.74		Missense_Mutation	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5	p.G16E	ENST00000370629.2	37	c.47	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	g	11.09	1.537245	0.27475	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.78595	-1.19;-1.19	5.8	3.96	0.45880	.	0.217998	0.31519	N	0.007510	T	0.78717	0.4327	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.953	T	0.68315	-0.5441	10	0.62326	D	0.03	-9.544	8.5516	0.33455	0.0:0.1622:0.6662:0.1716	.	16;16	Q3L8U2;P29965	.;CD40L_HUMAN	E	16	ENSP00000359663:G16E;ENSP00000359662:G16E	ENSP00000359662:G16E	G	+	2	0	CD40LG	135558120	0.505000	0.26131	0.590000	0.28732	0.168000	0.22595	1.522000	0.35921	1.184000	0.42957	0.597000	0.82753	GGA	-	pirsf_TNF_ligand_5		0.428	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	protein_coding	OTTHUMT00000058501.1	G	NM_000074	-		135730454	1	no_errors	ENST00000370629	ensembl	human	known	74_37	missense	SNP	0.023	A	A	135730454	G	A	135730454	3	1	196	1	0	0	0	0	1	0	0	0	3018	1174	41	2	49	2	CD40LG	23	135730454	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	739810	135730454	19540106	2350	15622											
ARHGEF6	9459	genome.wustl.edu	37	chrX	135757223	135757223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcttcgatcactttaaGgatttgagcatcctcttcca	8	10	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:135757223G>A	ENST00000250617.6	-	19	3183	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L533F|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L506F|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L506F	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	660					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)					ATCACTTTAAGGATTTGAGCA	0.423																																																	0								ENSG00000129675						149	126	134					X																	135757223		2203	4300	6503	ARHGEF6	SO:0001583	missense	0			-	HGNC	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.1978C>T	X.37:g.135757223G>A	ENSP00000250617:p.Leu660Phe	Somatic	0	40	0		0.52429534266604	3	62.5	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	12	75.51	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.L660F	ENST00000250617.6	37	c.1978	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274437	0.59649	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.73258	-0.62;-0.49;-0.49;-0.73	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86814	0.2000	10	0.87932	D	0	.	14.0029	0.64444	0.0758:0.0:0.9242:0.0	.	533;660	B7Z3C7;Q15052	.;ARHG6_HUMAN	F	660;506;506;506;533	ENSP00000250617:L660F;ENSP00000359654:L506F;ENSP00000359656:L506F;ENSP00000439483:L533F	ENSP00000250617:L660F	L	-	1	0	ARHGEF6	135584889	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	6.043000	0.71004	2.347000	0.79759	0.600000	0.82982	CTT	-	NULL		0.423	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	protein_coding	OTTHUMT00000058511.2	G	NM_004840	-		135757223	-1	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135757223	G	A	135757223	3	1	196	1	0	0	0	0	1	0	0	0	910	1000	35	2	368	2	ARHGEF6	23	135757223	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	26769	135757223	19513337	2351	15623											
ZIC3	7547	genome.wustl.edu	37	chrX	136652049	136652049	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatatacatgttaattttaGgttcatgaatctcaagggtc	7	5	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:136652049G>A	ENST00000287538.5	+	3	1774		c.e3-1		ZIC3_ENST00000478471.1_Splice_Site|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3						anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GTTAATTTTAGGTTCATGAAT	0.413																																																	0								ENSG00000156925						51	52	52					X																	136652049		2203	4300	6503	ZIC3	SO:0001630	splice_region_variant	0			-	HGNC	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1225-1G>A	X.37:g.136652049G>A		Somatic	0	28	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	15	64.29	B2CNW4|Q14DE5|Q5JY75	Splice_Site	SNP							-	e3-1	ENST00000287538.5	37	c.1225-1	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544022	0.45280	.	.	ENSG00000156925	ENST00000287538	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1822	0.89782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZIC3	136479715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.517000	0.84864	0.600000	0.82982	.	-	-		0.413	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	protein_coding	OTTHUMT00000058526.1	G		-	Intron	136652049	1	no_errors	ENST00000287538	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	136652049	G	A	136652049	5	1	196	1	0	0	0	0	0	0	1	0	17687	1014	35	2	1234	2	ZIC3	23	136652049	Splice_Site	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	894826	136652049	18618511	2352	15624											
SPANXD	64648	genome.wustl.edu	37	chrX	140786496	140786496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctaacagtcttaccatctCgttggcctcgttggaatcac	7	13	3	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:140786496C>T	ENST00000370515.3	-	1	400	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	23						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTTACCATCTCGTTGGCCTCG	0.517																																																	0								ENSG00000196406						3	3	3					X																	140786496		1397	2773	4170	SPANXD	SO:0001583	missense	0			-	HGNC	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.67G>A	X.37:g.140786496C>T	ENSP00000359546:p.Glu23Lys	Somatic	0	75	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	28	67.82	Q5JWI1	Missense_Mutation	SNP							pfam_SPANX_prot	p.E23K	ENST00000370515.3	37	c.67	CCDS14675.1	X	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246435	0.10130	.	.	ENSG00000196406	ENST00000370515	T	0.09255	3.0	.	.	.	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.35201	-0.9798	6	0.45353	T	0.12	.	.	.	.	.	23	Q9BXN6	SPNXD_HUMAN	K	23	ENSP00000359546:E23K	ENSP00000359546:E23K	E	-	1	0	SPANXD	140614162	0.032000	0.19561	0.004000	0.12327	0.004000	0.04260	0.650000	0.24858	0.080000	0.16959	0.081000	0.15443	GAG	-	pfam_SPANX_prot		0.517	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXD	protein_coding	OTTHUMT00000058598.1	C		-		140786496	-1	no_errors	ENST00000370515	ensembl	human	known	74_37	missense	SNP	0.004	T	T	140786496	C	T	140786496	3	4	196	1	0	0	0	0	1	0	0	0	14996	893	31	1	234	1	SPANXD	23	140786496	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	4134447	140786496	14484064	2353	15625											
SPANXN2	494119	genome.wustl.edu	37	chrX	142795316	142795316	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcttcgtcctcctgtgaaGatccttcagatgagtccagg	11	11	2	4			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:142795316G>A	ENST00000370498.1	-	2	1115	c.362C>T	c.(361-363)tCt>tTt	p.S121F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	121								p.K49K(1)|p.S121F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.522																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)						ENSG00000203924						20	20	20					X																	142795316		2116	4094	6210	SPANXN2	SO:0001583	missense	0			-	HGNC		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.362C>T	X.37:g.142795316G>A	ENSP00000359529:p.Ser121Phe	Somatic	0	84	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	63	14.86	Q0ZNM2	Missense_Mutation	SNP							pfam_SPANX_prot	p.S121F	ENST00000370498.1	37	c.362	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	N	5.902	0.350506	0.11182	.	.	ENSG00000203924	ENST00000370498	T	0.08458	3.09	0.441	-0.882	0.10604	.	.	.	.	.	T	0.11495	0.0280	L	0.29908	0.895	0.09310	N	1	D	0.59357	0.985	P	0.59643	0.861	T	0.21109	-1.0255	8	0.87932	D	0	.	.	.	.	.	121	Q5MJ10	SPXN2_HUMAN	F	121	ENSP00000359529:S121F	ENSP00000359529:S121F	S	-	2	0	SPANXN2	142622982	0.058000	0.20735	0.000000	0.03702	0.019000	0.09904	-0.386000	0.07370	-0.585000	0.05905	0.263000	0.19301	TCT	-	NULL		0.522	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	protein_coding	OTTHUMT00000058621.2	G	NM_001009615	-		142795316	-1	no_errors	ENST00000370498	ensembl	human	known	74_37	missense	SNP	0.003	A	A	142795316	G	A	142795316	3	1	196	1	0	0	0	0	1	0	0	0	14999	942	33	2	184	2	SPANXN2	23	142795316	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	2008820	142795316	12475244	2354	15626											
PASD1	139135	genome.wustl.edu	37	chrX	150842501	150842501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcattcctcagtttcCcataacttcagactcaacca	3	15	3	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:150842501C>T	ENST00000370357.4	+	15	2263	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	673						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTTTCCCATAACTTCA	0.493																																																	0								ENSG00000166049						125	111	116					X																	150842501		2203	4300	6503	PASD1	SO:0001583	missense	0			-	HGNC	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2018C>T	X.37:g.150842501C>T	ENSP00000359382:p.Pro673Leu	Somatic	0	25	0		0.52429534266604	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	12	68.42	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP							superfamily_PAS,smart_PAS,pfscan_PAS	p.P673L	ENST00000370357.4	37	c.2018	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189192	0.38707	.	.	ENSG00000166049	ENST00000370357	T	0.36157	1.27	3.23	1.45	0.22620	.	.	.	.	.	T	0.21674	0.0522	N	0.24115	0.695	0.09310	N	1	B	0.27882	0.192	B	0.27076	0.076	T	0.25012	-1.0144	9	0.87932	D	0	-0.0015	3.4001	0.07320	0.2519:0.6068:0.0:0.1413	.	673	Q8IV76	PASD1_HUMAN	L	673	ENSP00000359382:P673L	ENSP00000359382:P673L	P	+	2	0	PASD1	150593157	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.091000	0.11146	0.254000	0.21573	0.600000	0.82982	CCC	-	NULL		0.493	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	protein_coding	OTTHUMT00000060879.2	C	NM_173493	-		150842501	1	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	SNP	0.000	T	T	150842501	C	T	150842501	3	4	196	1	0	0	0	0	1	0	0	0	11473	623	22	2	2072	2	PASD1	23	150842501	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	8047185	150842501	4428059	2355	15627											
GABRE	2564	genome.wustl.edu	37	chrX	151123886	151123886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtctggttgtagatcAggaagttgagcacagcaaac	11	7	2	2			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:151123886A>C	ENST00000370328.3	-	8	1144	c.1091T>G	c.(1090-1092)cTg>cGg	p.L364R	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.L364R|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	364					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Ketazolam(DB01587)|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)	GTTGTAGATCAGGAAGTTGAG	0.498																																																	0								ENSG00000102287						116	101	106					X																	151123886		2203	4300	6503	GABRE	SO:0001583	missense	0			-	HGNC	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1091T>G	X.37:g.151123886A>C	ENSP00000359353:p.Leu364Arg	Somatic	0	14	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L364R	ENST00000370328.3	37	c.1091	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908337	0.52333	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.85955	-2.05;-2.05	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.800688	0.10468	N	0.671124	D	0.91439	0.7298	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88321	0.2962	10	0.87932	D	0	.	12.8406	0.57800	1.0:0.0:0.0:0.0	.	364	P78334	GBRE_HUMAN	R	364	ENSP00000359353:L364R;ENSP00000359350:L364R	ENSP00000359350:L364R	L	-	2	0	GABRE	150874542	1.000000	0.71417	0.995000	0.50966	0.187000	0.23431	5.134000	0.64770	1.940000	0.56252	0.486000	0.48141	CTG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	protein_coding	OTTHUMT00000060903.1	A	NM_004961, NM_021990, NM_021984	-		151123886	-1	no_errors	ENST00000370328	ensembl	human	known	74_37	missense	SNP	1.000	C	C	151123886	A	C	151123886	3	2	196	1	0	0	0	0	1	0	0	0	6172	188	7	5	437	5	GABRE	23	151123886	Missense_Mutation	SNP	A	TCGA-QC-A7B5-01A-11D-A33E-09	281385	151123886	4146674	2356	15628											
MAGEA6	4105	genome.wustl.edu	37	chrX	151869463	151869463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagttgaagtcaccctgggGgaggtgcctgctgccgagtc	15	11	1	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:151869463G>A	ENST00000329342.5	+	3	378	c.153G>A	c.(151-153)ggG>ggA	p.G51G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	51										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCCTGGGGGAGGTGCCTG	0.632																																																	0								ENSG00000197172						4	5	5					X																	151869463		1854	3730	5584	MAGEA6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.153G>A	X.37:g.151869463G>A		Somatic	0	14	0		0.52429534266604	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	5	73.68	A8IF93|Q6NW44	Silent	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G51	ENST00000329342.5	37	c.153	CCDS14708.1	X																																																																																			-	pfam_Melanoma_ass_antigen_N		0.632	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	protein_coding	OTTHUMT00000058747.2	G	NM_005363	-		151869463	1	no_errors	ENST00000329342	ensembl	human	known	74_37	silent	SNP	0.009	A	A	151869463	G	A	151869463	2	1	196	1	0	0	0	0	0	0	0	1	9172	1219	43	2		2	MAGEA6	23	151869463	Silent	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	745577	151869463	3401097	2357	15629											
HCFC1	3054	genome.wustl.edu	37	chrX	153219588	153219588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctcgtgggtctcacagGgggggttggagcacaccctc	15	13	2	0			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:153219588G>A	ENST00000310441.7	-	17	5228	c.4262C>T	c.(4261-4263)cCc>cTc	p.P1421L	HCFC1_ENST00000369984.4_Missense_Mutation_p.P1421L|HCFC1_ENST00000354233.3_Missense_Mutation_p.P1352L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1421					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)					GGTCTCACAGGGGGGGTTGGA	0.632																																																	0								ENSG00000172534						42	46	44					X																	153219588		2101	4187	6288	HCFC1	SO:0001583	missense	0			-	HGNC		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.4262C>T	X.37:g.153219588G>A	ENSP00000309555:p.Pro1421Leu	Somatic	0	27	0		0.52429534266604	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	Q6P4G5	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.P1421L	ENST00000310441.7	37	c.4262	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792052	0.90453	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.06142	3.34;3.36;3.34	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00042	-1.2230	10	0.72032	D	0.01	.	18.015	0.89236	0.0:0.0:1.0:0.0	.	1421	P51610	HCFC1_HUMAN	L	1421;1421;1352	ENSP00000309555:P1421L;ENSP00000359001:P1421L;ENSP00000346174:P1352L	ENSP00000309555:P1421L	P	-	2	0	HCFC1	152872782	1.000000	0.71417	0.684000	0.30055	0.962000	0.63368	8.701000	0.91331	2.531000	0.85337	0.600000	0.82982	CCC	-	NULL		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	G	NM_005334	-		153219588	-1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153219588	G	A	153219588	3	1	196	1	0	0	0	0	1	0	0	0	6993	1232	43	2	1885	2	HCFC1	23	153219588	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	1350125	153219588	2050972	2358	15630											
HCFC1	3054	genome.wustl.edu	37	chrX	153220527	153220527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctcgtgggtctcgcagGgtgggtttgagcagccatgc	16	11	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:153220527G>A	ENST00000310441.7	-	17	4289	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	HCFC1_ENST00000369984.4_Missense_Mutation_p.P1108L|HCFC1_ENST00000354233.3_Missense_Mutation_p.P1039L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1108					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)					GGTCTCGCAGGGTGGGTTTGA	0.672																																																	0								ENSG00000172534						40	45	44					X																	153220527		2178	4243	6421	HCFC1	SO:0001583	missense	0			-	HGNC		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.3323C>T	X.37:g.153220527G>A	ENSP00000309555:p.Pro1108Leu	Somatic	0	9	0		0.52429534266604	1	90	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	11	56.00	Q6P4G5	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.P1108L	ENST00000310441.7	37	c.3323	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	g	20.3	3.958867	0.74016	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.08546	3.16;3.17;3.08	5.08	4.22	0.49857	.	0.052530	0.85682	N	0.000000	T	0.23370	0.0565	L	0.58810	1.83	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.00324	-1.1817	10	0.72032	D	0.01	.	11.6652	0.51370	0.09:0.0:0.9099:0.0	.	1108	P51610	HCFC1_HUMAN	L	1108;1108;1039	ENSP00000309555:P1108L;ENSP00000359001:P1108L;ENSP00000346174:P1039L	ENSP00000309555:P1108L	P	-	2	0	HCFC1	152873721	1.000000	0.71417	0.626000	0.29213	0.789000	0.44602	7.160000	0.77495	0.934000	0.37316	0.525000	0.51046	CCC	-	NULL		0.672	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	G	NM_005334	-		153220527	-1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	SNP	0.994	A	A	153220527	G	A	153220527	3	1	196	1	0	0	0	0	1	0	0	0	6993	1232	43	2	2824	2	HCFC1	23	153220527	Missense_Mutation	SNP	G	TCGA-QC-A7B5-01A-11D-A33E-09	939	153220527	2050033	2359	15631											
TMLHE	55217	genome.wustl.edu	37	chrX	154721289	154721289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtagccagtgaagcattcCctgccatgtaggacacgcca	11	13	0	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:154721289C>T	ENST00000334398.3	-	8	1318	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	TMLHE-AS1_ENST00000433624.1_RNA|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	391					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGCATTCCCTGCCATGTA	0.438																																																	0								ENSG00000185973						5	4	5					X																	154721289		1771	3294	5065	TMLHE	SO:0001819	synonymous_variant	0			-	HGNC	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.1173G>A	X.37:g.154721289C>T		Somatic	0	21	0		0.52429534266604	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Silent	SNP							pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.R391	ENST00000334398.3	37	c.1173	CCDS14768.1	X																																																																																			-	pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase		0.438	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	protein_coding	OTTHUMT00000058817.1	C	NM_018196	-		154721289	-1	no_errors	ENST00000334398	ensembl	human	known	74_37	silent	SNP	1.000	T	T	154721289	C	T	154721289	2	4	196	1	0	0	0	0	0	0	0	1	16239	622	22	2		2	TMLHE	23	154721289	Silent	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09	1500762	154721289	549271	2360	15632											
PCDH11Y	83259	genome.wustl.edu	37	chrY	4925406	4925406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatcaacatatcaattcCagagaactcggctataaact	5	9	2	1			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrY:4925406C>T	ENST00000333703.4	+	4	1022	c.509C>T	c.(508-510)cCa>cTa	p.P170L	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P181L|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P181L	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	181	Cadherin 1. {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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATATCAATTCCAGAGAACTCG	0.383																																																	0								ENSG00000099715						14	13	13					Y																	4925406		615	1912	2527	PCDH11Y	SO:0001583	missense	0			-	HGNC	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.509C>T	Y.37:g.4925406C>T	ENSP00000330552:p.Pro170Leu	Somatic	0	68	0		0.52429534266604	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	29	65.06	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P181L	ENST00000333703.4	37	c.542	CCDS14776.1	Y																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.383	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	protein_coding	OTTHUMT00000084979.2	C	NM_032973	-		4925406	1	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4925406	C	T	4925406	3	4	196	1	0	0	0	0	1	0	0	0	11511	594	21	2	580	2	PCDH11Y	24	4925406	Missense_Mutation	SNP	C	TCGA-QC-A7B5-01A-11D-A33E-09		4925406	54448160	2361	15633											
FOXD3	27022	genome.wustl.edu	37	chr1	63788984	63788995	+	In_Frame_Del	DEL	GGCCGGAGCCGG	GGCCGGAGCCGG	-													ctgacattgcccaaggaggcGgccggagccggggccggacc					rs151026788	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	GGCCGGAGCCGG	GGCCGGAGCCGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:63788984_63788995delGGCCGGAGCCGG	ENST00000371116.2	+	1	255_266	c.255_266delGGCCGGAGCCGG	c.(253-267)gcggccggagccggg>gcg	p.AGAG86del	RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	86					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|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 transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCAAGGAGGCGGCCGGAGCCGGGGCCGGACCG	0.797														71	0.0141773	0.0522	0.0029	5008	,	,		8704	0		0	False		,,,				2504	0				Pancreas(68;276 1750 11966 31252)												0								ENSG00000187140			79,1693		29,21,836						2	0.8		dbSNP_134	3	3,4037		1,1,2018	no	coding	FOXD3	NM_012183.2		30,22,2854	A1A1,A1R,RR		0.0743,4.4582,1.4109				82,5730				FOXD3	SO:0001651	inframe_deletion	0				HGNC	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.255_266delGGCCGGAGCCGG	1.37:g.63788984_63788995delGGCCGGAGCCGG	ENSP00000360157:p.Ala86_Gly89del	Somatic					0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q9BYM2|Q9UDD1	In_Frame_Del	DEL							pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.AGAG88in_frame_del	ENST00000371116.2	37	c.255_266	CCDS624.1	1																																																																																			-	NULL		0.797	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	protein_coding	OTTHUMT00000025331.1	GGCCGGAGCCGG				63788995	1	no_errors	ENST00000371116	ensembl	human	known	74_37	in_frame_del	DEL	0.833:0.408:0.422:0.421:0.968:0.982:0.968:1.000:1.000:1.000:1.000:0.998	-	-	63788995	GGCCGGAGCCGG	-	63788984	7	5	197	1	0	1	0	1	0	0	0	0	6000	1103	39	0	257	0	FOXD3	1	63788984	In_Frame_Del	DEL	GGCCGGAGCCGG	TCGA-QC-AA9N-01A-11D-A38Z-09		63788984	185461637	1	15634											
SMG5	23381	genome.wustl.edu	37	chr1	156230411	156230411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggacctcaggacacaagGccaggcctgggcagaagaag	14	11	1	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:156230411G>A	ENST00000361813.5	-	15	2258	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	705					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGGACACAAGGCCAGGCCTGG	0.537																																																	0								ENSG00000198952						60	49	53					1																	156230411		2203	4300	6503	SMG5	SO:0001583	missense	0			-	HGNC	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2114C>T	1.37:g.156230411G>A	ENSP00000355261:p.Ala705Val	Somatic	0	27	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP							pfam_EST1,smart_PIN_dom	p.A705V	ENST00000361813.5	37	c.2114	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504207	0.44558	.	.	ENSG00000198952	ENST00000361813	T	0.29142	1.58	5.36	1.11	0.20524	.	0.303260	0.37809	N	0.001938	T	0.05181	0.0138	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.14699	-1.0463	10	0.41790	T	0.15	-5.0791	5.732	0.18045	0.2713:0.1609:0.5678:0.0	.	705	Q9UPR3	SMG5_HUMAN	V	705	ENSP00000355261:A705V	ENSP00000355261:A705V	A	-	2	0	SMG5	154497035	0.913000	0.31002	0.962000	0.40283	0.968000	0.65278	1.026000	0.30103	0.389000	0.25086	0.561000	0.74099	GCC	-	NULL		0.537	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	protein_coding	OTTHUMT00000046308.1	G	NM_015327	-		156230411	-1	no_errors	ENST00000361813	ensembl	human	known	74_37	missense	SNP	0.963	A	A	156230411	G	A	156230411	3	1	197	1	0	0	0	0	1	0	0	0	14804	1203	42	2	968	2	SMG5	1	156230411	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	92441427	156230411	93020210	2	15635											
ATP1A2	477	genome.wustl.edu	37	chr1	160111084	160111084	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcccaatctctctaacagGctgggtggagaaggagacat	11	10	2	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:160111084G>T	ENST00000361216.3	+	23	3124	c.3035G>T	c.(3034-3036)gGc>gTc	p.G1012V	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Splice_Site_p.G1001V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1012					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCTAACAGGCTGGGTGGAG	0.527																																																	0								ENSG00000018625						117	106	110					1																	160111084		2203	4300	6503	ATP1A2	SO:0001630	splice_region_variant	0			-	HGNC	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3035-1G>T	1.37:g.160111084G>T		Somatic	0	24	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G1012V	ENST00000361216.3	37	c.3035	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162071|4.162071	0.78226|0.78226	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.94723	.|-3.45;-3.5	4.42|4.42	4.42|4.42	0.53409|0.53409	.|ATPase, P-type,  transmembrane domain (1);	.|.	.|.	.|.	.|.	D|D	0.98102|0.98102	0.9374|0.9374	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.98945|0.98945	1.0792|1.0792	5|8	.|.	.|.	.|.	.|.	14.929|14.929	0.70900|0.70900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|912;1012	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	S|V	706|1012;1001;715	.|ENSP00000354490:G1012V;ENSP00000376066:G1001V	.|.	A|G	+|+	1|2	0|0	ATP1A2|ATP1A2	158377708|158377708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.545000|8.545000	0.90657|0.90657	2.455000|2.455000	0.83008|0.83008	0.460000|0.460000	0.39030|0.39030	GCT|GGC	-	tigrfam_ATPase_P-typ_Na/K_IIC		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	G	NM_000702	-	Missense_Mutation	160111084	1	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160111084	G	T	160111084	5	4	197	1	0	0	0	0	0	0	1	0	1129	1217	42	3	3125	3	ATP1A2	1	160111084	Splice_Site	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	3880673	160111084	89139537	3	15636											
ADCY10	55811	genome.wustl.edu	37	chr1	167863154	167863154	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagttcaggatcaggcttCagcgtgcatgcaagcctcag	11	12	4	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:167863154C>T	ENST00000367851.4	-	8	949	c.765G>A	c.(763-765)ctG>ctA	p.L255L	ADCY10_ENST00000545172.1_Silent_p.L102L|ADCY10_ENST00000367848.1_Silent_p.L163L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	255					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						GATCAGGCTTCAGCGTGCATG	0.488																																																	0								ENSG00000143199																																			ADCY10	SO:0001819	synonymous_variant	0			-	HGNC	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.765G>A	1.37:g.167863154C>T		Somatic	0	38	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP							pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L255	ENST00000367851.4	37	c.765	CCDS1265.1	1																																																																																			-	pirsf_Adenylate_cylcase_typ10		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	protein_coding	OTTHUMT00000083663.1	C	NM_018417	rs148864018		167863154	-1	no_errors	ENST00000367851	ensembl	human	known	74_37	silent	SNP	1.000	T	T	167863154	C	T	167863154	2	4	197	1	0	0	0	0	0	0	0	1	293	813	29	2		2	ADCY10	1	167863154	Silent	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	7752070	167863154	81387467	4	15637											
PFKFB2	5208	genome.wustl.edu	37	chr1	207243688	207243688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctggaacgtcagggcaatGtcctcgtcatctcccaccag	10	14	3	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:207243688G>T	ENST00000367080.3	+	12	1280	c.1156G>T	c.(1156-1158)Gtc>Ttc	p.V386F	PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V200F|PFKFB2_ENST00000367079.2_Missense_Mutation_p.V386F|PFKFB2_ENST00000545806.1_Missense_Mutation_p.V353F|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V288F	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	386	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCAGGGCAATGTCCTCGTCAT	0.617																																																	0								ENSG00000123836						101	73	83					1																	207243688		2203	4300	6503	PFKFB2	SO:0001583	missense	0			-	HGNC		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1156G>T	1.37:g.207243688G>T	ENSP00000356047:p.Val386Phe	Somatic	0	28	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP							pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.V386F	ENST00000367080.3	37	c.1156	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366522	0.82463	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.65	4.73	0.59995	Histidine phosphatase superfamily, clade-1 (2);	0.112076	0.64402	D	0.000010	D	0.88640	0.6491	M	0.91972	3.26	0.58432	D	0.999998	D;D;D;D	0.76494	0.988;0.997;0.992;0.999	D;D;D;D	0.65874	0.911;0.925;0.939;0.925	D	0.89979	0.4099	10	0.87932	D	0	.	10.3505	0.43931	0.1512:0.0:0.8488:0.0	.	200;288;386;386	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	F	288;386;386;353;200	ENSP00000408717:V288F;ENSP00000356047:V386F;ENSP00000356046:V386F;ENSP00000439420:V353F;ENSP00000440878:V200F	ENSP00000356046:V386F	V	+	1	0	PFKFB2	205310311	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	5.727000	0.68523	1.352000	0.45808	0.655000	0.94253	GTC	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.617	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	protein_coding	OTTHUMT00000087838.1	G		-		207243688	1	no_errors	ENST00000367080	ensembl	human	known	74_37	missense	SNP	0.996	T	T	207243688	G	T	207243688	3	4	197	1	0	0	0	0	1	0	0	0	11763	1377	48	3	1198	3	PFKFB2	1	207243688	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	39380534	207243688	42006933	5	15638											
OR2G6	391211	genome.wustl.edu	37	chr1	248685143	248685143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacttcttcctcagcaacCtctcgtgtgtggacatctgc	8	13	4	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:248685143C>T	ENST00000343414.4	+	1	228	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCAGCAACCTCTCGTGTGT	0.498																																																	0								ENSG00000188558						131	110	117					1																	248685143		2203	4300	6503	OR2G6	SO:0001583	missense	0			-	HGNC		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.196C>T	1.37:g.248685143C>T	ENSP00000341291:p.Leu66Phe	Somatic	0	49	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	12	64.71	B2RP33	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66F	ENST00000343414.4	37	c.196	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	-	14.93	2.683664	0.47991	.	.	ENSG00000188558	ENST00000343414	T	0.00512	6.89	3.68	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35378	U	0.003253	T	0.01627	0.0052	M	0.85099	2.735	0.24727	N	0.993111	D	0.89917	1.0	D	0.87578	0.998	T	0.20174	-1.0283	10	0.87932	D	0	.	8.6556	0.34062	0.0:0.7953:0.0:0.2047	.	66	Q5TZ20	OR2G6_HUMAN	F	66	ENSP00000341291:L66F	ENSP00000341291:L66F	L	+	1	0	OR2G6	246751766	0.003000	0.15002	0.185000	0.23176	0.831000	0.47069	-0.277000	0.08502	0.733000	0.32492	0.400000	0.26472	CTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	protein_coding	OTTHUMT00000097358.1	C	XM_372842	-		248685143	1	no_errors	ENST00000343414	ensembl	human	known	74_37	missense	SNP	0.697	T	T	248685143	C	T	248685143	3	4	197	1	0	0	0	0	1	0	0	0	11002	681	24	2	198	2	OR2G6	1	248685143	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	41441455	248685143	565478	6	15639											
CGREF1	10669	genome.wustl.edu	37	chr2	27324340	27324340	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcccctctgggcccGggggcatctccttcagcctc	10	19	3	0	rs11893427	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:27324340G>A	ENST00000260595.5	-	6	1028				CGREF1_ENST00000402394.1_Silent_p.P253P|CGREF1_ENST00000312734.4_Silent_p.P253P|CGREF1_ENST00000405600.1_Silent_p.P253P|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Silent_p.P375P|CGREF1_ENST00000452318.2_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGGGCCCGGGGGCATCTC	0.706																																																	0								ENSG00000138028						39	47	44					2																	27324340		1674	3351	5025	CGREF1	SO:0001627	intron_variant	0			-	HGNC	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.735+23C>T	2.37:g.27324340G>A		Somatic	0	14	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP							pfscan_EF_hand_dom	p.P253	ENST00000260595.5	37	c.759		2																																																																																			-	NULL		0.706	CGREF1-201	KNOWN	basic	protein_coding	CGREF1	protein_coding		G	NM_006569	rs11893427		27324340	-1	no_errors	ENST00000312734	ensembl	human	known	74_37	silent	SNP	0.000	A	A	27324340	G	A	27324340	1	1	197	0	1	0	0	0	0	0	0	0	3307	1103	39	1		1	CGREF1	2	27324340	Intron	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		27324340	215875033	7	15640											
GALNT14	79623	genome.wustl.edu	37	chr2	31167809	31167809	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggctccagtcaaaccCtacaacacagcaccaaccca	7	16	1	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:31167809C>T	ENST00000349752.5	-	8	1382		c.e8-1		GALNT14_ENST00000324589.5_Splice_Site|GALNT14_ENST00000356174.3_Splice_Site|GALNT14_ENST00000486564.1_Splice_Site|GALNT14_ENST00000420311.2_Splice_Site|GALNT14_ENST00000406653.1_Splice_Site	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTCAAACCCTACAACACAG	0.577																																																	0								ENSG00000158089						54	57	56					2																	31167809		2203	4300	6503	GALNT14	SO:0001630	splice_region_variant	0			-	HGNC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.743-1G>A	2.37:g.31167809C>T		Somatic	0	29	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Splice_Site	SNP							-	e8-1	ENST00000349752.5	37	c.743-1	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735864	0.69189	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3749	0.90432	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GALNT14	31021313	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	7.603000	0.82811	2.502000	0.84385	0.456000	0.33151	.	-	-		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	C	NM_024572	-	Intron	31167809	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	31167809	C	T	31167809	5	4	197	1	0	0	0	0	0	0	1	0	6214	695	24	2	948	2	GALNT14	2	31167809	Splice_Site	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	3843469	31167809	212031564	8	15641											
KDM3A	55818	genome.wustl.edu	37	chr2	86705389	86705389	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagatcattcctggaaaagGtatttcatgtgctgcagtga	10	7	2	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:86705389G>T	ENST00000409556.1	+	15	2553		c.e15+1		KDM3A_ENST00000312912.5_Splice_Site|KDM3A_ENST00000409064.1_Splice_Site|KDM3A_ENST00000542128.1_Splice_Site			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A						androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCTGGAAAAGGTATTTCATGT	0.393																																					NSCLC(96;1150 1523 6936 46253 49736)												0								ENSG00000115548						112	112	112					2																	86705389		2203	4300	6503	KDM3A	SO:0001630	splice_region_variant	0			-	HGNC	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2188+1G>T	2.37:g.86705389G>T		Somatic	0	32	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Splice_Site	SNP							-	e13+1	ENST00000409556.1	37	c.2188+1	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824422	0.90955	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6672	0.91495	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM3A	86558900	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.869000	0.99810	2.651000	0.90000	0.655000	0.94253	.	-	-		0.393	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	protein_coding	OTTHUMT00000252522.2	G	NM_018433	-	Intron	86705389	1	no_errors	ENST00000312912	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	86705389	G	T	86705389	5	4	197	1	0	0	0	0	0	0	1	0	8128	1275	44	3	2239	3	KDM3A	2	86705389	Splice_Site	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	55537580	86705389	156493984	9	15642											
CCDC141	285025	genome.wustl.edu	37	chr2	179742829	179742829	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctccttctgagggatttcGgtttcataaaattcttttaa	7	7	3	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:179742829G>T	ENST00000409284.1	-	12	1878	c.1761C>A	c.(1759-1761)acC>acA	p.T587T	CCDC141_ENST00000295723.5_Silent_p.T12T|CCDC141_ENST00000420890.2_Silent_p.T587T			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	587										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGGGATTTCGGTTTCATAAA	0.348																																																	0								ENSG00000163492						70	68	68					2																	179742829		2203	4300	6503	CCDC141	SO:0001819	synonymous_variant	0			-	HGNC	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1761C>A	2.37:g.179742829G>T		Somatic	0	43	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	9	60.87	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP							pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T587	ENST00000409284.1	37	c.1761		2																																																																																			-	NULL		0.348	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	protein_coding	OTTHUMT00000335873.1	G	NM_173648	-		179742829	-1	no_errors	ENST00000420890	ensembl	human	known	74_37	silent	SNP	0.000	T	T	179742829	G	T	179742829	2	4	197	1	0	0	0	0	0	0	0	1	2777	1103	39	3		3	CCDC141	2	179742829	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	93037440	179742829	63456544	10	15643											
PER2	8864	genome.wustl.edu	37	chr2	239155060	239155060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaagggggatccattttCgtcttctttggtgtccgaca	10	9	3	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:239155060C>T	ENST00000254657.3	-	23	4003	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1242	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GATCCATTTTCGTCTTCTTTG	0.498																																																	0								ENSG00000132326						117	97	104					2																	239155060		2203	4300	6503	PER2	SO:0001583	missense	0			-	HGNC	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3724G>A	2.37:g.239155060C>T	ENSP00000254657:p.Glu1242Lys	Somatic	0	56	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.E1242K	ENST00000254657.3	37	c.3724	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007411	0.19199	.	.	ENSG00000132326	ENST00000254657	T	0.10573	2.86	5.03	-0.0139	0.13982	.	1.242210	0.05386	N	0.538147	T	0.06234	0.0161	N	0.21097	0.63	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.39396	-0.9616	10	0.08837	T	0.75	-2.9459	4.3455	0.11131	0.0:0.4034:0.3605:0.2361	.	1242	O15055	PER2_HUMAN	K	1242	ENSP00000254657:E1242K	ENSP00000254657:E1242K	E	-	1	0	PER2	238819799	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.948000	0.29096	0.103000	0.17682	0.655000	0.94253	GAA	-	NULL		0.498	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	protein_coding	OTTHUMT00000257167.1	C	NM_022817	-		239155060	-1	no_errors	ENST00000254657	ensembl	human	known	74_37	missense	SNP	0.000	T	T	239155060	C	T	239155060	3	4	197	1	0	0	0	0	1	0	0	0	11732	893	31	1	47	1	PER2	2	239155060	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	59412231	239155060	4044313	11	15644											
MYRIP	25924	genome.wustl.edu	37	chr3	40192545	40192545	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgttttcctcaggcttctGagggcccaatctctggaatg	10	11	4	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr3:40192545G>T	ENST00000302541.6	+	4	681	c.339G>T	c.(337-339)ctG>ctT	p.L113L	MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000425621.1_Silent_p.L113L|MYRIP_ENST00000444716.1_Silent_p.L113L|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	113	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCAGGCTTCTGAGGGCCCAAT	0.443																																																	0								ENSG00000170011						35	36	36					3																	40192545		2203	4300	6503	MYRIP	SO:0001819	synonymous_variant	0			-	HGNC	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.339G>T	3.37:g.40192545G>T		Somatic	0	48	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP							pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.L113	ENST00000302541.6	37	c.339	CCDS2689.1	3																																																																																			-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ		0.443	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	protein_coding	OTTHUMT00000254181.2	G	NM_015460	-		40192545	1	no_errors	ENST00000302541	ensembl	human	known	74_37	silent	SNP	0.995	T	T	40192545	G	T	40192545	2	4	197	1	0	0	0	0	0	0	0	1	10102	1277	45	3		3	MYRIP	3	40192545	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		40192545	157829885	12	15645											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41038986	41038986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttttcccagaaaaaAggctctgaagaccaggaaag	10	9	2	3			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:41038986A>T	ENST00000399564.4	-	21	2516	c.2066T>A	c.(2065-2067)cTt>cAt	p.L689H	MROH2B_ENST00000506092.2_Missense_Mutation_p.L244H	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	689																	CCCAGAAAAAAGGCTCTGAAG	0.443																																																	0								ENSG00000171495						61	56	58					5																	41038986		1825	4076	5901	MROH2B	SO:0001583	missense	0			-	HGNC		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.2066T>A	5.37:g.41038986A>T	ENSP00000382476:p.Leu689His	Somatic	0	14	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.L689H	ENST00000399564.4	37	c.2066	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085584	0.55861	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.72725	4.79;-0.68	5.93	4.76	0.60689	Armadillo-type fold (1);	0.992316	0.08179	N	0.985701	T	0.57710	0.2072	N	0.08118	0	0.09310	N	0.999999	D	0.60575	0.988	P	0.49528	0.614	T	0.39313	-0.9620	10	0.14252	T	0.57	.	10.327	0.43798	0.835:0.165:0.0:0.0	.	689	Q7Z745	HTRB2_HUMAN	H	244;394;689	ENSP00000441504:L244H;ENSP00000382476:L689H	ENSP00000296803:L394H	L	-	2	0	HEATR7B2	41074743	0.460000	0.25776	0.363000	0.25875	0.727000	0.41649	3.008000	0.49544	1.052000	0.40392	0.533000	0.62120	CTT	-	superfamily_ARM-type_fold		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	A	NM_173489	-		41038986	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	0.212	T	T	41038986	A	T	41038986	3	4	197	1	0	0	0	0	1	0	0	0	7037	72	3	5	2779	5	HEATR7B2	5	41038986	Missense_Mutation	SNP	A	TCGA-QC-AA9N-01A-11D-A38Z-09		41038986	139876274	13	15646											
DCP2	167227	genome.wustl.edu	37	chr5	112337295	112337295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actggctttctcgaagatttGgcgattcctcagacagtgac	10	10	2	3			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:112337295G>T	ENST00000389063.2	+	7	928	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	DCP2_ENST00000515408.1_Missense_Mutation_p.G244C|DCP2_ENST00000543319.1_Missense_Mutation_p.G33C	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	244					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TCGAAGATTTGGCGATTCCTC	0.408																																																	0								ENSG00000172795						195	208	203					5																	112337295		2202	4300	6502	DCP2	SO:0001583	missense	0			-	HGNC	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.730G>T	5.37:g.112337295G>T	ENSP00000373715:p.Gly244Cys	Somatic	0	40	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP							pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.G244C	ENST00000389063.2	37	c.730	CCDS34210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739392|2.739392	0.49045|0.49045	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.48836|.	0.85;0.8|.	5.79|5.79	4.92|4.92	0.64577|0.64577	.|.	0.195454|.	0.53938|.	D|.	0.000044|.	T|T	0.50718|0.50718	0.1632|0.1632	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.34724|.	0.457;0.465|.	B;B|.	0.35510|.	0.204;0.101|.	T|T	0.45848|0.45848	-0.9233|-0.9233	10|5	0.52906|.	T|.	0.07|.	-17.2893|-17.2893	10.5704|10.5704	0.45196|0.45196	0.0686:0.0:0.7987:0.1327|0.0686:0.0:0.7987:0.1327	.|.	244;244|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	C|L	244;244;33|225	ENSP00000425770:G244C;ENSP00000373715:G244C|.	ENSP00000373715:G244C|.	G|W	+|+	1|2	0|0	DCP2|DCP2	112365194|112365194	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.897000|0.897000	0.52465|0.52465	5.230000|5.230000	0.65321|0.65321	1.447000|1.447000	0.47661|0.47661	0.643000|0.643000	0.83706|0.83706	GGC|TGG	-	NULL		0.408	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	protein_coding	OTTHUMT00000370765.3	G	NM_152624	-		112337295	1	no_errors	ENST00000389063	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112337295	G	T	112337295	3	4	197	1	0	0	0	0	1	0	0	0	4302	1348	47	3	756	3	DCP2	5	112337295	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	71298309	112337295	68577965	14	15647											
FBN2	2201	genome.wustl.edu	37	chr5	127610308	127610308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggacatttacaggtAaacccccccagggtgttgac	11	12	0	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:127610308A>T	ENST00000508053.1	-	66	8636	c.7662T>A	c.(7660-7662)ttT>ttA	p.F2554L	FBN2_ENST00000262464.4_Missense_Mutation_p.F2554L			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; 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)			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)		ATTTACAGGTAAACCCCCCCA	0.418																																																	0								ENSG00000138829						100	96	97					5																	127610308		2203	4300	6503	FBN2	SO:0001583	missense	0			-	HGNC	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.7662T>A	5.37:g.127610308A>T	ENSP00000424571:p.Phe2554Leu	Somatic	0	43	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	45	38.36	B4DU01|Q59ES6	Missense_Mutation	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.F2554L	ENST00000508053.1	37	c.7662	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695635	0.88830	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95853	-3.83;-3.83	4.92	-1.37	0.09056	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000010	D	0.97198	0.9084	M	0.85859	2.78	0.43457	D	0.995654	D	0.57257	0.979	D	0.74023	0.982	D	0.96501	0.9371	10	0.72032	D	0.01	.	13.5375	0.61653	0.2001:0.0:0.7999:0.0	.	2554	P35556	FBN2_HUMAN	L	2554	ENSP00000262464:F2554L;ENSP00000424571:F2554L	ENSP00000262464:F2554L	F	-	3	2	FBN2	127638207	1.000000	0.71417	0.944000	0.38274	0.973000	0.67179	2.137000	0.42130	-0.104000	0.12154	0.477000	0.44152	TTT	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	A	NM_001999	-		127610308	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127610308	A	T	127610308	3	4	197	1	0	0	0	0	1	0	0	0	5705	359	13	5	1100	5	FBN2	5	127610308	Missense_Mutation	SNP	A	TCGA-QC-AA9N-01A-11D-A38Z-09	15273013	127610308	53304952	15	15648											
SLIT3	6586	genome.wustl.edu	37	chr5	168244435	168244435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagagccaggccaggtgGcagtcgcagtacaggtggtt	16	10	0	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:168244435G>A	ENST00000519560.1	-	8	1082	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLIT3_ENST00000332966.8_Silent_p.C221C|SLIT3_ENST00000404867.3_Silent_p.C221C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	221	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCAGGTGGCAGTCGCAGT	0.622																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						59	55	56					5																	168244435		2203	4300	6503	SLIT3	SO:0001819	synonymous_variant	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.663C>T	5.37:g.168244435G>A		Somatic	0	23	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP							pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C221	ENST00000519560.1	37	c.663	CCDS4369.1	5																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C		0.622	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168244435	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	SNP	1.000	A	A	168244435	G	A	168244435	2	1	197	1	0	0	0	0	0	0	0	1	14749	1195	42	2		2	SLIT3	5	168244435	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	40634127	168244435	12670825	16	15649											
SLC17A3	10786	genome.wustl.edu	37	chr6	25862063	25862063	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attcgagttacaatgagcaaGactattccaaagtcagtggc	9	8	1	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr6:25862063G>A	ENST00000360657.3	-	4	589				SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000397060.4_Silent_p.V166V			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAATGAGCAAGACTATTCCAA	0.423																																																	0								ENSG00000124564						57	58	58					6																	25862063		2183	4286	6469	SLC17A3	SO:0001627	intron_variant	0			-	HGNC	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.304-124C>T	6.37:g.25862063G>A		Somatic	0	41	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Silent	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V166	ENST00000360657.3	37	c.498	CCDS4566.2	6																																																																																			-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.423	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	protein_coding	OTTHUMT00000040070.2	G		-		25862063	-1	no_errors	ENST00000397060	ensembl	human	known	74_37	silent	SNP	0.000	A	A	25862063	G	A	25862063	1	1	197	0	1	0	0	0	0	0	0	0	14426	929	33	2		2	SLC17A3	6	25862063	Intron	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		25862063	145253004	17	15650											
CLVS2	134829	genome.wustl.edu	37	chr6	123376999	123376999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtctacaccaactaattcatCctgagatcctgccctctgag	6	14	3	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr6:123376999C>G	ENST00000275162.5	+	5	2059	c.724C>G	c.(724-726)Cct>Gct	p.P242A	CLVS2_ENST00000368438.1_Missense_Mutation_p.P96A	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)			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						ACTAATTCATCCTGAGATCCT	0.443																																																	0								ENSG00000146352						185	158	167					6																	123376999		2203	4300	6503	CLVS2	SO:0001583	missense	0			-	HGNC	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.724C>G	6.37:g.123376999C>G	ENSP00000275162:p.Pro242Ala	Somatic	0	27	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P242A	ENST00000275162.5	37	c.724	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190137	0.58017	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.75260	-0.92;-0.92	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	L	0.45137	1.4	0.80722	D	1	B	0.29232	0.238	B	0.30316	0.114	T	0.59742	-0.7397	10	0.37606	T	0.19	-12.8029	20.2983	0.98569	0.0:1.0:0.0:0.0	.	242	Q5SYC1	CLVS2_HUMAN	A	242;96	ENSP00000275162:P242A;ENSP00000357423:P96A	ENSP00000275162:P242A	P	+	1	0	CLVS2	123418698	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.443	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	protein_coding	OTTHUMT00000042042.2	C	NM_001010852	-		123376999	1	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	SNP	1.000	G	G	123376999	C	G	123376999	3	3	197	1	0	0	0	0	1	0	0	0	3574	855	30	4	738	4	CLVS2	6	123376999	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	97514936	123376999	47738068	18	15651											
INTS1	26173	genome.wustl.edu	37	chr7	1535871	1535871	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcatcatggacacggccagGacgtcggtgatgtgcaccac	13	12	1	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:1535871G>T	ENST00000404767.3	-	12	1717	c.1632C>A	c.(1630-1632)gtC>gtA	p.V544V	INTS1_ENST00000389470.4_Silent_p.V672V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	544					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACACGGCCAGGACGTCGGTGA	0.642																																																	0								ENSG00000164880						78	89	85					7																	1535871		2103	4217	6320	INTS1	SO:0001819	synonymous_variant	0			-	HGNC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1632C>A	7.37:g.1535871G>T		Somatic	0	52	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP							pfam_DUF3677,superfamily_ARM-type_fold	p.V672	ENST00000404767.3	37	c.2016	CCDS47526.1	7																																																																																			-	NULL		0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	protein_coding	OTTHUMT00000323683.1	G		-		1535871	-1	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	SNP	0.985	T	T	1535871	G	T	1535871	2	4	197	1	0	0	0	0	0	0	0	1	7777	1161	41	3		3	INTS1	7	1535871	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		1535871	157602792	19	15652											
NUDT1	29886	genome.wustl.edu	37	chr7	2289570	2289570	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgagttcgtgggcgaGcctgagctcatggacgtgca	16	8	1	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:2289570G>C	ENST00000222990.3	-	0	4727				NUDT1_ENST00000397048.1_Missense_Mutation_p.E100D|NUDT1_ENST00000356714.1_Missense_Mutation_p.E77D|NUDT1_ENST00000339737.2_Missense_Mutation_p.E77D|NUDT1_ENST00000343985.4_Missense_Mutation_p.E100D|NUDT1_ENST00000397049.1_Missense_Mutation_p.E100D|NUDT1_ENST00000397046.1_Missense_Mutation_p.E77D|NUDT1_ENST00000487426.1_3'UTR	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCGTGGGCGAGCCTGAGCTCA	0.657																																																	0								ENSG00000106268						257	193	215					7																	2289570		2203	4300	6503	NUDT1	SO:0001628	intergenic_variant	0			-	HGNC	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2289570G>C		Somatic	0	21	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	7	76.67	A4D207|Q96I67	Missense_Mutation	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase	p.E100D	ENST00000222990.3	37	c.300	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631353	0.03584	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29	5.28	-1.61	0.08399	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.251000	0.05044	N	0.476851	T	0.03348	0.0097	N	0.05330	-0.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43605	-0.9381	10	0.06625	T	0.88	-9.7342	10.8752	0.46906	0.0:0.4045:0.4702:0.1253	.	118	P36639	8ODP_HUMAN	D	77;100;77;100;100;77	ENSP00000349148:E77D;ENSP00000380242:E100D;ENSP00000380239:E77D;ENSP00000380241:E100D;ENSP00000339503:E100D;ENSP00000343439:E77D	ENSP00000343439:E77D	E	+	3	2	NUDT1	2256096	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.272000	0.08560	-0.361000	0.08125	0.462000	0.41574	GAG	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase		0.657	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT1	protein_coding	OTTHUMT00000322949.2	G		-		2289570	1	no_errors	ENST00000343985	ensembl	human	known	74_37	missense	SNP	0.011	C	C	2289570	G	C	2289570	1	2	197	0	1	0	0	0	0	0	0	0	10727	962	34	4		4	NUDT1	7	2289570	IGR	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	753699	2289570	156849093	20	15653											
HDAC9	9734	genome.wustl.edu	37	chr7	18630036	18630036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactggagcagcagaggcaAgaacaggaagtagagaggca	15	6	0	3			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:18630036A>G	ENST00000432645.2	+	3	333	c.333A>G	c.(331-333)caA>caG	p.Q111Q	HDAC9_ENST00000417496.2_Silent_p.Q153Q|HDAC9_ENST00000406072.1_Silent_p.Q142Q|HDAC9_ENST00000441542.2_Silent_p.Q114Q|HDAC9_ENST00000456174.2_Silent_p.Q83Q|HDAC9_ENST00000405010.3_Silent_p.Q111Q|HDAC9_ENST00000401921.1_Silent_p.Q114Q|HDAC9_ENST00000406451.4_Silent_p.Q111Q|HDAC9_ENST00000524023.1_Silent_p.Q80Q|HDAC9_ENST00000428307.2_Silent_p.Q111Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	111					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAGAGGCAAGAACAGGAAG	0.478																																																	0								ENSG00000048052						72	76	74					7																	18630036		2059	4214	6273	HDAC9	SO:0001819	synonymous_variant	0			-	HGNC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.333A>G	7.37:g.18630036A>G		Somatic	0	50	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP							pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.Q114	ENST00000432645.2	37	c.342	CCDS47555.1	7																																																																																			-	pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk		0.478	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	protein_coding	OTTHUMT00000376176.1	A		-		18630036	1	no_errors	ENST00000441542	ensembl	human	known	74_37	silent	SNP	1.000	G	G	18630036	A	G	18630036	2	3	197	1	0	0	0	0	0	0	0	1	7016	69	3	5		5	HDAC9	7	18630036	Silent	SNP	A	TCGA-QC-AA9N-01A-11D-A38Z-09	16340466	18630036	140508627	21	15654											
C7orf10	79783	genome.wustl.edu	37	chr7	40356428	40356428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaaacgttggggtacaGctcatggcagtatcgttcct	11	9	1	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:40356428G>T	ENST00000335693.4	+	9	834	c.811G>T	c.(811-813)Gct>Tct	p.A271S	C7orf10_ENST00000309930.5_Missense_Mutation_p.A271S|C7orf10_ENST00000401647.2_Missense_Mutation_p.A223S	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		271					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						TTGGGGTACAGCTCATGGCAG	0.373																																																	0								ENSG00000175600						78	77	77					7																	40356428		1876	4128	6004	C7orf10	SO:0001583	missense	0			-	HGNC																												ENST00000335693.4:c.811G>T	7.37:g.40356428G>T	ENSP00000338475:p.Ala271Ser	Somatic	0	42	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP							pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.A271S	ENST00000335693.4	37	c.811	CCDS55105.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.312801|3.312801	0.60414|0.60414	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.54866|.	0.55;0.55;0.55|.	5.59|5.59	5.59|5.59	0.84812|0.84812	CoA-transferase family III domain (2);|.	0.047194|.	0.85682|.	D|.	0.000000|.	T|T	0.69214|0.69214	0.3086|0.3086	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	P;P;B|.	0.36438|.	0.553;0.553;0.365|.	B;B;B|.	0.42593|.	0.256;0.392;0.3|.	T|T	0.64841|0.64841	-0.6312|-0.6312	10|5	0.56958|.	D|.	0.05|.	-14.2319|-14.2319	17.1108|17.1108	0.86674|0.86674	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	223;271;234|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	S|H	271;223;271|265	ENSP00000312054:A271S;ENSP00000385222:A223S;ENSP00000338475:A271S|.	ENSP00000312054:A271S|.	A|Q	+|+	1|3	0|2	C7orf10|C7orf10	40322953|40322953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	6.584000|6.584000	0.74057|0.74057	2.788000|2.788000	0.95919|0.95919	0.557000|0.557000	0.71058|0.71058	GCT|CAG	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.373	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	protein_coding	OTTHUMT00000338388.1	G		-		40356428	1	no_errors	ENST00000309930	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40356428	G	T	40356428	3	4	197	1	0	0	0	0	1	0	0	0	2378	971	34	3	734	3	C7orf10	7	40356428	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	21726392	40356428	118782235	22	15655											
ELN	2006	genome.wustl.edu	37	chr7	73442538	73442538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgggtctgacggcggcGgccccgcggcccggagtcct	18	15	1	1	rs569660857		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:73442538G>A	ENST00000252034.7	+	1	420	c.21G>A	c.(19-21)gcG>gcA	p.A7A	ELN_ENST00000429192.1_Silent_p.A7A|ELN_ENST00000320399.6_Silent_p.A7A|ELN_ENST00000414324.1_Silent_p.A7A|ELN_ENST00000445912.1_Silent_p.A7A|ELN_ENST00000320492.7_Silent_p.A7A|ELN_ENST00000380553.4_Silent_p.A7A|ELN_ENST00000458204.1_Silent_p.A7A|ELN_ENST00000357036.5_Silent_p.A7A|ELN_ENST00000380584.4_Silent_p.A7A|ELN_ENST00000380575.4_Silent_p.A7A|ELN_ENST00000380562.4_Silent_p.A7A|ELN_ENST00000358929.4_Silent_p.A7A|ELN_ENST00000380576.5_Silent_p.A7A	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	7					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)			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)				TGAcggcggcggccccgcggc	0.682			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0								ENSG00000049540						18	21	20					7																	73442538		2191	4288	6479	ELN	SO:0001819	synonymous_variant	0			-	HGNC		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.21G>A	7.37:g.73442538G>A		Somatic	0	80	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	28	62.16	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP							prints_Tropoelastin	p.A7	ENST00000252034.7	37	c.21	CCDS5562.2	7																																																																																			-	NULL		0.682	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	-		73442538	1	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	SNP	0.040	A	A	73442538	G	A	73442538	2	1	197	1	0	0	0	0	0	0	0	1	5073	1103	39	1		1	ELN	7	73442538	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	33086110	73442538	85696125	23	15656											
TTC26	79989	genome.wustl.edu	37	chr7	138865918	138865918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtccttcagtctcttaCagctcattgctaatgactgc	8	12	3	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:138865918C>A	ENST00000464848.1	+	16	1473	c.1393C>A	c.(1393-1395)Cag>Aag	p.Q465K	TTC26_ENST00000343187.4_Missense_Mutation_p.Q434K|TTC26_ENST00000478836.2_Missense_Mutation_p.Q358K|TTC26_ENST00000495038.1_Missense_Mutation_p.Q334K|TTC26_ENST00000430935.1_Missense_Mutation_p.Q465K			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	465					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						CAGTCTCTTACAGCTCATTGC	0.393																																																	0								ENSG00000105948						78	79	78					7																	138865918		2203	4300	6503	TTC26	SO:0001583	missense	0			-	HGNC	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.1393C>A	7.37:g.138865918C>A	ENSP00000419279:p.Gln465Lys	Somatic	0	38	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR-contain_dom	p.Q465K	ENST00000464848.1	37	c.1393	CCDS5852.1	7	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929349	0.73327	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.44482	0.92;1.2;1.2;1.2;1.2	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);	0.128751	0.56097	D	0.000040	T	0.47820	0.1466	M	0.79475	2.455	0.80722	D	1	P;B;P;B	0.43094	0.79;0.187;0.799;0.118	B;B;B;B	0.38683	0.279;0.152;0.152;0.073	T	0.46952	-0.9154	10	0.27785	T	0.31	.	19.2296	0.93833	0.0:1.0:0.0:0.0	.	334;434;465;465	B7Z2T3;F8W724;C9J2N7;A0AVF1	.;.;.;TTC26_HUMAN	K	465;334;358;465;434	ENSP00000410655:Q465K;ENSP00000418788:Q334K;ENSP00000419178:Q358K;ENSP00000419279:Q465K;ENSP00000339135:Q434K	ENSP00000339135:Q434K	Q	+	1	0	TTC26	138516458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.544000	0.82117	2.835000	0.97688	0.650000	0.86243	CAG	-	smart_TPR_repeat		0.393	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC26	protein_coding	OTTHUMT00000348919.2	C	NM_024926	-		138865918	1	no_errors	ENST00000464848	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138865918	C	A	138865918	3	1	197	1	0	0	0	0	1	0	0	0	16701	479	17	3	1455	3	TTC26	7	138865918	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	65423380	138865918	20272745	24	15657											
PRSS55	203074	genome.wustl.edu	37	chr8	10383240	10383240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccctcatccccccagcCcagtcagtggtgagtacagg	10	17	2	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr8:10383240C>A	ENST00000328655.3	+	1	185	c.145C>A	c.(145-147)Cca>Aca	p.P49T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.P49T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	49						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCCCCCAGCCCAGTCAGTGG	0.657																																																	0								ENSG00000184647						20	20	20					8																	10383240		2203	4300	6503	PRSS55	SO:0001583	missense	0			-	HGNC	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.145C>A	8.37:g.10383240C>A	ENSP00000333003:p.Pro49Thr	Somatic	0	31	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	E5RJX5	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P49T	ENST00000328655.3	37	c.145	CCDS5976.1	8	.	.	.	.	.	.	.	.	.	.	C	7.203	0.593883	0.13875	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.92647	-3.08;-3.08	3.62	1.7	0.24286	.	.	.	.	.	T	0.78585	0.4306	N	0.05199	-0.095	0.09310	N	1	B	0.25235	0.121	B	0.21546	0.035	T	0.65265	-0.6210	9	0.13108	T	0.6	.	6.1498	0.20306	0.2167:0.5733:0.21:0.0	.	49	Q6UWB4	PRS55_HUMAN	T	49	ENSP00000333003:P49T;ENSP00000430459:P49T	ENSP00000333003:P49T	P	+	1	0	PRSS55	10420650	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.096000	0.11059	0.459000	0.27016	0.460000	0.39030	CCA	-	NULL		0.657	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	protein_coding	OTTHUMT00000251493.3	C	NM_198464	-		10383240	1	no_errors	ENST00000328655	ensembl	human	known	74_37	missense	SNP	0.001	A	A	10383240	C	A	10383240	3	1	197	1	0	0	0	0	1	0	0	0	12639	623	22	3	147	3	PRSS55	8	10383240	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09		10383240	135980782	25	15658											
RALYL	138046	genome.wustl.edu	37	chr8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgactccttgctagggCgcctggagaagattgagaaa	12	7	0	4			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr8:85785593C>T	ENST00000521268.1	+	7	1751	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	RALYL_ENST00000522455.1_Missense_Mutation_p.R216C|RALYL_ENST00000517638.1_Missense_Mutation_p.R229C|RALYL_ENST00000518566.1_Missense_Mutation_p.R205C|RALYL_ENST00000523850.1_Missense_Mutation_p.R143C|RALYL_ENST00000521376.1_Missense_Mutation_p.R127C|RALYL_ENST00000521695.1_Missense_Mutation_p.R216C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	216							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423																																																	0								ENSG00000184672						55	53	54					8																	85785593		1909	4107	6016	RALYL	SO:0001583	missense	0			-	HGNC		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.646C>T	8.37:g.85785593C>T	ENSP00000430367:p.Arg216Cys	Somatic	0	57	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	10	67.74	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.R216C	ENST00000521268.1	37	c.646	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	C	16.14	3.040216	0.55003	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.21031	2.76;2.76;2.76;2.74;2.75;2.3;2.03	6.16	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	M	0.77103	2.36	0.45097	D	0.998112	P;D;P;P;D	0.53885	0.768;0.963;0.743;0.851;0.963	B;B;B;B;B	0.43728	0.225;0.429;0.176;0.399;0.429	T	0.07385	-1.0775	10	0.87932	D	0	-3.0131	7.8421	0.29403	0.5307:0.3874:0.0:0.0819	.	205;216;143;229;216	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	216;216;216;205;229;143;127	ENSP00000430394:R216C;ENSP00000428667:R216C;ENSP00000430367:R216C;ENSP00000430065:R205C;ENSP00000430128:R229C;ENSP00000428807:R143C;ENSP00000428310:R127C	ENSP00000430128:R229C	R	+	1	0	RALYL	85948148	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.492000	0.45311	0.907000	0.36646	0.650000	0.86243	CGC	-	pirsf_hnRNP_C_Raly		0.423	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	protein_coding	OTTHUMT00000379448.1	C		-		85785593	1	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	SNP	0.999	T	T	85785593	C	T	85785593	3	4	197	1	0	0	0	0	1	0	0	0	13028	768	27	1	711	1	RALYL	8	85785593	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	75402353	85785593	60578429	26	15659											
TRAF2	7186	genome.wustl.edu	37	chr9	139793212	139793212	+	Frame_Shift_Del	DEL	C	C	-													catggctgcagctagcgtgaCcccccctggctccctggagt							TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr9:139793212delC	ENST00000247668.2	+	2	72	c.20delC	c.(19-21)accfs	p.T7fs	TRAF2_ENST00000359662.3_Frame_Shift_Del_p.T7fs|TRAF2_ENST00000536468.1_Frame_Shift_Del_p.T7fs	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCTAGCGTGACCCCCCCTGGC	0.592																																																	0								ENSG00000127191						39	39	39					9																	139793212		2203	4299	6502	TRAF2	SO:0001589	frameshift_variant	0				HGNC	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.20delC	9.37:g.139793212delC	ENSP00000247668:p.Thr7fs	Somatic	0	37	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K107|B4DPJ7|Q7Z337|Q96NT2	Frame_Shift_Del	DEL							pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.P9fs	ENST00000247668.2	37	c.20	CCDS7013.1	9																																																																																			-	pirsf_TNF_rcpt--assoc_TRAF		0.592	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	protein_coding	OTTHUMT00000055166.1	C	NM_021138			139793212	1	no_errors	ENST00000359662	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	139793212	C	-	139793212	7	5	197	1	0	1	0	1	0	0	0	0	16445	507	18	0	22	0	TRAF2	9	139793212	Frame_Shift_Del	DEL	C	TCGA-QC-AA9N-01A-11D-A38Z-09		139793212	1420219	27	15660											
C10orf107	219621	genome.wustl.edu	37	chr10	63445876	63445876	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taggaccaacacattcgcaaAagagtgaggactggaatatc	10	8	0	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:63445876A>T	ENST00000330194.2	+	3	453	c.148A>T	c.(148-150)Aag>Tag	p.K50*	RP11-63A2.2_ENST00000608672.1_RNA	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	50										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ACATTCGCAAAAGAGTGAGGA	0.333																																																	0								ENSG00000183346						95	95	95					10																	63445876		2203	4300	6503	C10orf107	SO:0001587	stop_gained	0			-	HGNC	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.148A>T	10.37:g.63445876A>T	ENSP00000328698:p.Lys50*	Somatic	0	127	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	76	36.67	Q5T1B8	Nonsense_Mutation	SNP							NULL	p.K50*	ENST00000330194.2	37	c.148	CCDS7262.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.03|10.03	1.238204|1.238204	0.22711|0.22711	.|.	.|.	ENSG00000183346|ENSG00000183346	ENST00000389639|ENST00000330194	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000014|0.000014	T|.	0.25568|.	0.0622|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30475|.	-0.9977|.	4|.	.|0.02654	.|T	.|1	-14.0709|-14.0709	10.0296|10.0296	0.42092|0.42092	0.914:0.0:0.086:0.0|0.914:0.0:0.086:0.0	.|.	.|.	.|.	.|.	N|X	38|50	.|.	.|ENSP00000328698:K50X	K|K	+|+	3|1	2|0	C10orf107|C10orf107	63115882|63115882	0.202000|0.202000	0.23423|0.23423	0.011000|0.011000	0.14972|0.14972	0.013000|0.013000	0.08279|0.08279	2.259000|2.259000	0.43259|0.43259	1.989000|1.989000	0.58080|0.58080	0.482000|0.482000	0.46254|0.46254	AAA|AAG	-	NULL		0.333	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf107	protein_coding	OTTHUMT00000048228.2	A	NM_173554	-		63445876	1	no_errors	ENST00000330194	ensembl	human	known	74_37	nonsense	SNP	0.140	T	T	63445876	A	T	63445876	4	4	197	1	0	0	0	0	0	1	0	0	1583	15	1	5	154	5	C10orf107	10	63445876	Nonsense_Mutation	SNP	A	TCGA-QC-AA9N-01A-11D-A38Z-09		63445876	72088871	28	15661											
LOC729020	729020	genome.wustl.edu	37	chr10	105006438	105006438	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgttctcttgatcgaTgaaaccataaggagcccaat	8	9	1	3			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:105006438T>A	ENST00000441178.2	+	1	795	c.685T>A	c.(685-687)Tga>Aga	p.*229R		NM_001143909.1	NP_001137381.1																					TCTTGATCGATGAAACCATAA	0.393																																																	0								ENSG00000235376						89	68	74					10																	105006438		692	1591	2283	RP11-332O19.5	SO:0001578	stop_lost	0			-	Clone_based_vega_gene																												ENST00000441178.2:c.685T>A	10.37:g.105006438T>A	ENSP00000476672:p.*229Argext*68	Somatic	0	56	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	20	50.00		Nonstop_Mutation	SNP							pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel	p.*229R	ENST00000441178.2	37	c.685		10																																																																																			-	NULL		0.393	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	LOC729020	protein_coding	OTTHUMT00000050120.2	T		-		105006438	1	no_errors	ENST00000441178	ensembl	human	putative	74_37	nonstop	SNP	1.000	A	A	105006438	T	A	105006438	4	1	197	1	0	0	0	0	0	0	0	0	8890	1477	51	5	687	5	LOC729020	10	105006438	Nonstop_Mutation	SNP	T	TCGA-QC-AA9N-01A-11D-A38Z-09	41560562	105006438	30528309	29	15662											
COL17A1	1308	genome.wustl.edu	37	chr10	105836073	105836073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataccttcatacgcatggCgggtaacgtgagttttcctt	10	9	1	2	rs529850690		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:105836073C>T	ENST00000353479.5	-	5	607	c.317G>A	c.(316-318)cGc>cAc	p.R106H	COL17A1_ENST00000369733.3_Missense_Mutation_p.R106H|COL17A1_ENST00000393211.3_Missense_Mutation_p.R106H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATACGCATGGCGGGTAACGTG	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		20710	0		0	False		,,,				2504	0																0								ENSG00000065618						201	201	201					10																	105836073		2203	4300	6503	COL17A1	SO:0001583	missense	0			-	HGNC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.317G>A	10.37:g.105836073C>T	ENSP00000340937:p.Arg106His	Somatic	0	72	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	23	56.60	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP							pfam_Collagen	p.R106H	ENST00000353479.5	37	c.317	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025665	0.54683	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.55760	0.5;0.5;0.5	5.61	4.71	0.59529	.	0.000000	0.46758	D	0.000278	T	0.68375	0.2994	L	0.56769	1.78	0.41450	D	0.987977	B;D;B	0.89917	0.333;1.0;0.225	B;D;B	0.85130	0.042;0.997;0.028	T	0.71830	-0.4474	10	0.66056	D	0.02	-10.5982	14.1453	0.65347	0.0:0.9271:0.0:0.0729	.	106;106;106	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	H	106	ENSP00000340937:R106H;ENSP00000358748:R106H;ENSP00000376905:R106H	ENSP00000340937:R106H	R	-	2	0	COL17A1	105826063	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.395000	0.52558	1.376000	0.46267	0.561000	0.74099	CGC	-	NULL		0.512	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494	-		105836073	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105836073	C	T	105836073	3	4	197	1	0	0	0	0	1	0	0	0	3676	768	27	1	4384	1	COL17A1	10	105836073	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	829635	105836073	29698674	30	15663											
TTC17	55761	genome.wustl.edu	37	chr11	43464991	43464991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcatggcctttggaaGgctttgggggtgcactagag	16	7	0	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:43464991G>C	ENST00000039989.4	+	17	2382	c.2368G>C	c.(2368-2370)Ggc>Cgc	p.G790R	TTC17_ENST00000299240.6_Missense_Mutation_p.G847R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	790					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCCTTTGGAAGGCTTTGGGGG	0.483																																																	0								ENSG00000052841						78	76	77					11																	43464991		2203	4300	6503	TTC17	SO:0001583	missense	0			-	HGNC	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2368G>C	11.37:g.43464991G>C	ENSP00000039989:p.Gly790Arg	Somatic	0	75	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	18	75.68	G3XAB3|Q8NEC0	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G790R	ENST00000039989.4	37	c.2368	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565747	0.65651	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.36520	1.25;1.33	5.7	4.78	0.61160	.	0.047074	0.85682	D	0.000000	T	0.24314	0.0589	N	0.08118	0	0.38202	D	0.940225	P;P;P	0.46706	0.814;0.877;0.883	B;B;P	0.44518	0.265;0.296;0.452	T	0.14448	-1.0472	10	0.32370	T	0.25	-12.1899	14.8693	0.70444	0.0691:0.0:0.9309:0.0	.	847;790;847	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	847;790	ENSP00000299240:G847R;ENSP00000039989:G790R	ENSP00000039989:G790R	G	+	1	0	TTC17	43421567	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	5.956000	0.70315	1.417000	0.47077	0.557000	0.71058	GGC	-	NULL		0.483	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	protein_coding	OTTHUMT00000389577.2	G	NM_018259	-		43464991	1	no_errors	ENST00000039989	ensembl	human	known	74_37	missense	SNP	1.000	C	C	43464991	G	C	43464991	3	2	197	1	0	0	0	0	1	0	0	0	16691	1000	35	4	2434	4	TTC17	11	43464991	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		43464991	91541525	31	15664											
OR5J2	282775	genome.wustl.edu	37	chr11	55944513	55944513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccatgtctgatagaaaGtgtgtggagcttgtcacagg	14	6	2	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:55944513G>A	ENST00000312298.1	+	1	420	c.420G>A	c.(418-420)aaG>aaA	p.K140K		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K140N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGATAGAAAGTGTGTGGAGC	0.453																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000174957						163	150	155					11																	55944513		2201	4296	6497	OR5J2	SO:0001819	synonymous_variant	0			-	HGNC	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.420G>A	11.37:g.55944513G>A		Somatic	0	21	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	Q6IEU5	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.K140	ENST00000312298.1	37	c.420	CCDS31522.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	protein_coding	OTTHUMT00000391544.1	G	NM_001005492	-		55944513	1	no_errors	ENST00000312298	ensembl	human	known	74_37	silent	SNP	0.001	A	A	55944513	G	A	55944513	2	1	197	1	0	0	0	0	0	0	0	1	11167	1020	36	2		2	OR5J2	11	55944513	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	12479522	55944513	79062003	32	15665											
FAM89B	23625	genome.wustl.edu	37	chr11	65340914	65340914	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccaggactacaaacacctGtgccaagacctgagcttctg	8	13	1	2	rs375388891		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:65340914G>T	ENST00000530349.1	+	2	514	c.372G>T	c.(370-372)ctG>ctT	p.L124L	FAM89B_ENST00000316409.2_Silent_p.L111L|FAM89B_ENST00000449319.2_Missense_Mutation_p.V128L|EHBP1L1_ENST00000309295.4_5'Flank			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	124					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						ACAAACACCTGTGCCAAGACC	0.612																																																	0								ENSG00000176973						91	70	77					11																	65340914		2201	4297	6498	FAM89B	SO:0001819	synonymous_variant	0			-	HGNC	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.372G>T	11.37:g.65340914G>T		Somatic	0	38	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP							NULL	p.V128L	ENST00000530349.1	37	c.382	CCDS53662.1	11	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647612	0.47258	.	.	ENSG00000176973	ENST00000449319	.	.	.	4.42	3.51	0.40186	.	.	.	.	.	T	0.39886	0.1095	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.14172	-1.0482	6	.	.	.	-12.2827	8.4279	0.32739	0.1067:0.0:0.8933:0.0	.	128	E9PB01	.	L	128	.	.	V	+	1	0	FAM89B	65097490	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	0.699000	0.25586	1.084000	0.41184	-0.224000	0.12420	GTG	-	NULL		0.612	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM89B	protein_coding	OTTHUMT00000390095.1	G	NM_152832	-		65340914	1	no_errors	ENST00000449319	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65340914	G	T	65340914	2	4	197	1	0	0	0	0	0	0	0	1	5650	1377	48	3		3	FAM89B	11	65340914	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	9396401	65340914	69665602	33	15666											
DYRK4	8798	genome.wustl.edu	37	chr12	4714197	4714197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggcggagttgtacacggGctaccccctgttccccgggg	14	15	0	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:4714197G>T	ENST00000540757.2	+	9	1059	c.899G>T	c.(898-900)gGc>gTc	p.G300V	DYRK4_ENST00000010132.5_Missense_Mutation_p.G300V|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Missense_Mutation_p.G300V|RP11-500M8.7_ENST00000536588.1_Missense_Mutation_p.A30S	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	300	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)			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)			TTGTACACGGGCTACCCCCTG	0.652											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000010219						66	59	62					12																	4714197		2203	4300	6503	DYRK4	SO:0001583	missense	0			-	HGNC	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.899G>T	12.37:g.4714197G>T	ENSP00000441755:p.Gly300Val	Somatic	0	41	0	620	0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G300V	ENST00000540757.2	37	c.899	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401910	0.83120	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.6	5.6	0.85130	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	0.76190	0.3953	H	0.97783	4.075	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	0.85406	0.1134	10	0.87932	D	0	.	19.2186	0.93788	0.0:0.0:1.0:0.0	.	415;14;300;300	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20	.;.;.;DYRK4_HUMAN	V	415;300;300;300	ENSP00000437534:G415V;ENSP00000441755:G300V;ENSP00000010132:G300V;ENSP00000439697:G300V	ENSP00000010132:G300V	G	+	2	0	DYRK4	4584458	1.000000	0.71417	0.976000	0.42696	0.353000	0.29299	9.713000	0.98740	2.642000	0.89623	0.555000	0.69702	GGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	G		-		4714197	1	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4714197	G	T	4714197	3	4	197	1	0	0	0	0	1	0	0	0	4860	1203	42	3	925	3	DYRK4	12	4714197	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		4714197	129137698	34	15667											
DNAH10	196385	genome.wustl.edu	37	chr12	124409668	124409668	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaacatcacccctttccaGaagttgcttattttgcgctg	6	12	1	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:124409668G>A	ENST00000409039.3	+	67	11509	c.11484G>A	c.(11482-11484)caG>caA	p.Q3828Q	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3828					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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCCTTTCCAGAAGTTGCTTA	0.473																																																	0								ENSG00000197653						215	210	211					12																	124409668		1968	4155	6123	DNAH10	SO:0001819	synonymous_variant	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11484G>A	12.37:g.124409668G>A		Somatic	0	107	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	81	35.71	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.Q3828	ENST00000409039.3	37	c.11484	CCDS9255.2	12																																																																																			-	pfam_Dynein_heavy_dom		0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	G		-		124409668	1	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	SNP	1.000	A	A	124409668	G	A	124409668	2	1	197	1	0	0	0	0	0	0	0	1	4600	933	33	2		2	DNAH10	12	124409668	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	119695471	124409668	9442227	35	15668											
AACS	65985	genome.wustl.edu	37	chr12	125609312	125609312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagaaggccatgaagCcgggtgagtgtgcctcttca	15	8	2	3			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:125609312C>T	ENST00000316519.6	+	11	1389	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S	AACS_ENST00000261686.6_Missense_Mutation_p.P395S|AACS_ENST00000545511.1_5'UTR|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	395					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGCCATGAAGCCGGGTGAGTG	0.522																																																	0								ENSG00000081760						116	100	105					12																	125609312		2203	4300	6503	AACS	SO:0001583	missense	0			-	HGNC	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1183C>T	12.37:g.125609312C>T	ENSP00000324842:p.Pro395Ser	Somatic	0	50	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.P395S	ENST00000316519.6	37	c.1183	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437028	0.83885	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000441247;ENST00000538851	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.47	4.47	0.54385	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.81741	-0.0794	10	0.72032	D	0.01	.	17.1511	0.86778	0.0:1.0:0.0:0.0	.	395;395	Q86V21-2;Q86V21	.;AACS_HUMAN	S	395;395;214;60	ENSP00000324842:P395S;ENSP00000261686:P395S;ENSP00000392967:P214S;ENSP00000441686:P60S	ENSP00000261686:P395S	P	+	1	0	AACS	124175265	1.000000	0.71417	0.991000	0.47740	0.751000	0.42716	6.807000	0.75201	2.025000	0.59659	0.462000	0.41574	CCG	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.522	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	protein_coding	OTTHUMT00000400202.1	C	NM_023928	-		125609312	1	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	SNP	1.000	T	T	125609312	C	T	125609312	3	4	197	1	0	0	0	0	1	0	0	0	9	739	26	2	1225	2	AACS	12	125609312	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	1199644	125609312	8242583	36	15669											
NBEA	26960	genome.wustl.edu	37	chr13	36223860	36223860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgataatggtgctgaaGtttccttcaaattctccagt	9	7	2	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr13:36223860G>A	ENST00000400445.3	+	51	8310	c.7776G>A	c.(7774-7776)aaG>aaA	p.K2592K	NBEA_ENST00000537702.1_Silent_p.K385K|NBEA_ENST00000379939.2_Silent_p.K2589K|NBEA_ENST00000310336.4_Silent_p.K2592K|NBEA_ENST00000379922.3_Silent_p.K170K|NBEA_ENST00000540320.1_Silent_p.K2592K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2592					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGCTGAAGTTTCCTTCAA	0.483																																																	0								ENSG00000172915						201	198	199					13																	36223860		2020	4190	6210	NBEA	SO:0001819	synonymous_variant	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7776G>A	13.37:g.36223860G>A		Somatic	0	42	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.K2592	ENST00000400445.3	37	c.7776	CCDS45026.1	13																																																																																			-	NULL		0.483	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		G	NM_015678	-		36223860	1	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	SNP	1.000	A	A	36223860	G	A	36223860	2	1	197	1	0	0	0	0	0	0	0	1	10189	1020	36	2		2	NBEA	13	36223860	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		36223860	78946018	37	15670											
SNX6	58533	genome.wustl.edu	37	chr14	35074802	35074802	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaataaaaaaatcacttacGcttccagttcctgtttcatc	3	10	2	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr14:35074802G>T	ENST00000362031.4	-	5	458	c.428C>A	c.(427-429)gCt>gAt	p.A143D	SNX6_ENST00000396534.3_Splice_Site_p.A15D|SNX6_ENST00000396526.3_Splice_Site_p.A15D|SNX6_ENST00000355110.5_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	131	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		aaTCACTTACGCTTCCAGTTC	0.353																																																	0								ENSG00000129515						86	71	76					14																	35074802		2203	4300	6503	SNX6	SO:0001630	splice_region_variant	0			-	HGNC	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.428+1C>A	14.37:g.35074802G>T		Somatic	0	31	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	C0H5W9|Q9Y449	Missense_Mutation	SNP							pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.A143D	ENST00000362031.4	37	c.428	CCDS41942.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.071174	0.93950	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000557265	T;T;T;T	0.40476	1.77;1.77;1.03;1.03	5.26	5.26	0.73747	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.66551	-0.5895	9	.	.	.	-13.0071	19.7471	0.96257	0.0:0.0:1.0:0.0	.	131	Q9UNH7	SNX6_HUMAN	D	15;15;143;106	ENSP00000379779:A15D;ENSP00000379785:A15D;ENSP00000355217:A143D;ENSP00000452577:A106D	.	A	-	2	0	SNX6	34144553	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.658000	0.98594	2.838000	0.97847	0.591000	0.81541	GCT	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox		0.353	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	protein_coding	OTTHUMT00000276642.3	G		-	Missense_Mutation	35074802	-1	no_errors	ENST00000362031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35074802	G	T	35074802	5	4	197	1	0	0	0	0	0	0	1	0	14914	1101	38	3	868	3	SNX6	14	35074802	Splice_Site	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		35074802	72274738	38	15671											
SEL1L	6400	genome.wustl.edu	37	chr14	81970568	81970568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttttggcttttcttattGcttccattaaggattttcat	5	7	2	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr14:81970568G>T	ENST00000336735.4	-	5	707	c.591C>A	c.(589-591)agC>agA	p.S197R	SEL1L_ENST00000555824.1_Missense_Mutation_p.S197R	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	197	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTTCTTATTGCTTCCATTAA	0.398																																																	0								ENSG00000071537						271	226	241					14																	81970568		2203	4300	6503	SEL1L	SO:0001583	missense	0			-	HGNC		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.591C>A	14.37:g.81970568G>T	ENSP00000337053:p.Ser197Arg	Somatic	0	55	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP							pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.S197R	ENST00000336735.4	37	c.591	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603113	0.66445	.	.	ENSG00000071537	ENST00000336735;ENST00000555824	T;T	0.49720	1.61;0.77	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.040809	0.85682	D	0.000000	T	0.60907	0.2305	M	0.68952	2.095	0.52099	D	0.999946	P;D	0.63880	0.889;0.993	P;P	0.59889	0.498;0.865	T	0.54715	-0.8252	10	0.22706	T	0.39	-12.1084	14.2677	0.66129	0.0706:0.0:0.9294:0.0	.	197;197	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	R	197	ENSP00000337053:S197R;ENSP00000450709:S197R	ENSP00000337053:S197R	S	-	3	2	SEL1L	81040321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.119000	0.50422	2.767000	0.95098	0.655000	0.94253	AGC	-	pfam_Sel1-like,smart_Sel1-like		0.398	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	protein_coding	OTTHUMT00000413325.1	G	NM_005065	-		81970568	-1	no_errors	ENST00000336735	ensembl	human	known	74_37	missense	SNP	1.000	T	T	81970568	G	T	81970568	3	4	197	1	0	0	0	0	1	0	0	0	14018	1310	46	3	1861	3	SEL1L	14	81970568	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	46895766	81970568	25378972	39	15672											
PTPN21	11099	genome.wustl.edu	37	chr14	88963625	88963625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgggacatgttggcaatGtcatgccacctaaagaacag	11	8	1	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr14:88963625G>T	ENST00000556564.1	-	9	1058	c.774C>A	c.(772-774)gaC>gaA	p.D258E	PTPN21_ENST00000328736.3_Missense_Mutation_p.D258E|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	258	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTGGCAATGTCATGCCACC	0.433																																																	0								ENSG00000070778						114	103	107					14																	88963625		2203	4300	6503	PTPN21	SO:0001583	missense	0			-	HGNC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.774C>A	14.37:g.88963625G>T	ENSP00000452414:p.Asp258Glu	Somatic	0	38	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50		Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.D258E	ENST00000556564.1	37	c.774	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381557	0.42207	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.81247	-1.47;-1.47	5.22	-3.81	0.04294	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.063071	0.64402	D	0.000006	T	0.67429	0.2892	L	0.31752	0.955	0.32801	D	0.500169	B	0.16802	0.019	B	0.18871	0.023	T	0.56511	-0.7967	10	0.45353	T	0.12	.	14.9713	0.71235	0.255:0.0:0.745:0.0	.	258	Q16825	PTN21_HUMAN	E	258	ENSP00000330276:D258E;ENSP00000452414:D258E	ENSP00000330276:D258E	D	-	3	2	PTPN21	88033378	0.029000	0.19370	0.984000	0.44739	0.893000	0.52053	-0.835000	0.04386	-0.535000	0.06307	-0.355000	0.07637	GAC	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain		0.433	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	protein_coding	OTTHUMT00000410303.1	G		-		88963625	-1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	SNP	0.975	T	T	88963625	G	T	88963625	3	4	197	1	0	0	0	0	1	0	0	0	12794	1368	48	3	2794	3	PTPN21	14	88963625	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	6993057	88963625	18385915	40	15673											
SEMA6D	80031	genome.wustl.edu	37	chr15	48057148	48057148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactacacagtcatctttgTtggctctgaagctggcatgg	11	9	3	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr15:48057148T>C	ENST00000316364.5	+	13	1761	c.1322T>C	c.(1321-1323)gTt>gCt	p.V441A	SEMA6D_ENST00000389433.2_Missense_Mutation_p.V441A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V441A|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V441A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V441A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V441A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V441A|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V441A|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V441A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V441A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V441A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V441A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	441	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)		GTCATCTTTGTTGGCTCTGAA	0.498																																																	0								ENSG00000137872						117	101	106					15																	48057148		2198	4297	6495	SEMA6D	SO:0001583	missense	0			-	HGNC	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.1322T>C	15.37:g.48057148T>C	ENSP00000324857:p.Val441Ala	Somatic	0	43	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.V441A	ENST00000316364.5	37	c.1322	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959679	0.74016	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.110387	0.64402	D	0.000010	T	0.18045	0.0433	L	0.42632	1.34	0.54753	D	0.999984	B;B;B;B;B	0.29270	0.03;0.24;0.03;0.003;0.03	B;B;B;B;B	0.36092	0.047;0.217;0.047;0.016;0.087	T	0.02581	-1.1138	10	0.87932	D	0	.	15.5806	0.76432	0.0:0.0:0.0:1.0	.	441;441;441;441;441	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	A	441	ENSP00000442040:V441A;ENSP00000446152:V441A;ENSP00000324857:V441A;ENSP00000374084:V441A;ENSP00000374083:V441A;ENSP00000346786:V441A;ENSP00000350770:V441A;ENSP00000374079:V441A;ENSP00000348276:V441A;ENSP00000374076:V441A	ENSP00000324857:V441A	V	+	2	0	SEMA6D	45844440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.078000	0.62432	0.533000	0.62120	GTT	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	T	NM_024966	-		48057148	1	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48057148	T	C	48057148	3	2	197	1	0	0	0	0	1	0	0	0	14050	1725	60	5	1368	5	SEMA6D	15	48057148	Missense_Mutation	SNP	T	TCGA-QC-AA9N-01A-11D-A38Z-09		48057148	54474244	41	15674											
MSLNL	401827	genome.wustl.edu	37	chr16	822908	822908	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctctgtctggttctccagGgccacgtcggaggccagcag	13	14	3	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:822908G>T	ENST00000442466.1	-	10	1223	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MSLNL_ENST00000293892.3_Silent_p.A759A|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	408					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTTCTCCAGGGCCACGTCGG	0.692																																																	0								ENSG00000162006						33	38	36					16																	822908		2014	4168	6182	MSLNL	SO:0001819	synonymous_variant	0			-	HGNC			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1224C>A	16.37:g.822908G>T		Somatic	0	39	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP							pfam_Mesothelin	p.A759	ENST00000442466.1	37	c.2277		16																																																																																			-	pfam_Mesothelin		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	protein_coding		G	NM_001025190	-		822908	-1	no_errors	ENST00000293892	ensembl	human	known	74_37	silent	SNP	0.952	T	T	822908	G	T	822908	2	4	197	1	0	0	0	0	0	0	0	1	9884	1219	43	3		3	MSLNL	16	822908	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09		822908	89531845	42	15675											
TSC2	7249	genome.wustl.edu	37	chr16	2115569	2115596	+	Frame_Shift_Del	DEL	TGGCCGCATACTCGGCCTCCTTGGAGGA	TGGCCGCATACTCGGCCTCCTTGGAGGA	-													ggagctggaagaaagggatgTggccgcatactcggcctcct					rs373515515|rs137854159|rs45471596|rs149877669|rs202171361	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	TGGCCGCATACTCGGCCTCCTTGGAGGA	TGGCCGCATACTCGGCCTCCTTGGAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:2115569_2115596delTGGCCGCATACTCGGCCTCCTTGGAGGA	ENST00000219476.3	+	16	2279_2306	c.1649_1676delTGGCCGCATACTCGGCCTCCTTGGAGGA	c.(1648-1677)gtggccgcatactcggcctccttggaggatfs	p.VAAYSASLED550fs	TSC2_ENST00000439673.2_Frame_Shift_Del_p.VAAYSASLED513fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.VAAYSASLED561fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.VAAYSASLED550fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.VAAYSASLED550fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.VAAYSASLED501fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.VAAYSASLED550fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	550					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A552T(1)|p.Y553Y(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACA	0.623			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(1)|central_nervous_system(1)	GRCh37	CM992682	TSC2	M	rs45471596	ENSG00000103197																																			TSC2	SO:0001589	frameshift_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease		HGNC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1649_1676delTGGCCGCATACTCGGCCTCCTTGGAGGA	16.37:g.2115569_2115596delTGGCCGCATACTCGGCCTCCTTGGAGGA	ENSP00000219476:p.Val550fs	Somatic					0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Del	DEL							pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.A551fs	ENST00000219476.3	37	c.1649_1676	CCDS10458.1	16																																																																																			-	superfamily_ARM-type_fold		0.623	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	TGGCCGCATACTCGGCCTCCTTGGAGGA	NM_000548			2115596	1	no_errors	ENST00000219476	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.025:0.726:0.836:0.931:0.931:0.685:0.981:1.000:0.997:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.989	-	-	2115596	TGGCCGCATACTCGGCCTCCTTGGAGGA	-	2115569	7	5	197	1	0	1	0	1	0	0	0	0	16613	1696	59	0	1707	0	TSC2	16	2115569	Frame_Shift_Del	DEL	TGGCCGCATACTCGGCCTCCTTGGAGGA	TCGA-QC-AA9N-01A-11D-A38Z-09	1292661	2115569	88239184	43	15676											
CES8	283848	genome.wustl.edu	37	chr16	67040651	67040651	+	Frame_Shift_Del	DEL	T	T	-													tcccattctgcccccaggccTttccatgggtaaggagaagg							TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:67040651delT	ENST00000326686.5	+	13	1448	c.1448delT	c.(1447-1449)cttfs	p.L483fs	CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Frame_Shift_Del_p.L413fs|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000541479.1_Frame_Shift_Del_p.L436fs|CES4A_ENST00000540579.1_Frame_Shift_Del_p.L385fs|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000535696.1_Intron			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	483						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCCCCAGGCCTTTCCATGGGT	0.577																																																	0								ENSG00000172824						112	117	115					16																	67040651		2033	4187	6220	CES4A	SO:0001589	frameshift_variant	0				HGNC	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1448delT	16.37:g.67040651delT	ENSP00000314145:p.Leu483fs	Somatic	0	55	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Frame_Shift_Del	DEL							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.S484fs	ENST00000326686.5	37	c.1448		16																																																																																			-	pfam_CarbesteraseB		0.577	CES4A-201	KNOWN	basic|appris_principal	protein_coding	CES4A	protein_coding		T	NM_173815			67040651	1	no_errors	ENST00000326686	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	67040651	T	-	67040651	7	5	197	1	0	1	0	1	0	0	0	0	3275	1609	56	0	1579	0	CES8	16	67040651	Frame_Shift_Del	DEL	T	TCGA-QC-AA9N-01A-11D-A38Z-09	64925082	67040651	23314102	44	15677											
DNAH9	1770	genome.wustl.edu	37	chr17	11593347	11593347	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcactatggaccaggacaCcaccctagcgcacctgctgc	8	17	1	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:11593347C>G	ENST00000262442.4	+	20	4276	c.4208C>G	c.(4207-4209)aCc>aGc	p.T1403S	DNAH9_ENST00000454412.2_Missense_Mutation_p.T1403S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1403	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)			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)		GACCAGGACACCACCCTAGCG	0.592																																																	0								ENSG00000007174						44	38	40					17																	11593347		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	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.4208C>G	17.37:g.11593347C>G	ENSP00000262442:p.Thr1403Ser	Somatic	0	30	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1403S	ENST00000262442.4	37	c.4208	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822435	0.50739	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61274	0.12;0.12	6.08	4.05	0.47172	Dynein heavy chain, domain-2 (1);	0.127114	0.52532	D	0.000080	T	0.75657	0.3879	M	0.89658	3.05	0.80722	D	1	D	0.60575	0.988	D	0.65573	0.936	T	0.75841	-0.3175	10	0.18710	T	0.47	.	11.8999	0.52678	0.0:0.8113:0.1231:0.0656	.	1403	Q9NYC9	DYH9_HUMAN	S	1403	ENSP00000262442:T1403S;ENSP00000414874:T1403S	ENSP00000262442:T1403S	T	+	2	0	DNAH9	11534072	1.000000	0.71417	0.673000	0.29887	0.480000	0.33159	4.016000	0.57159	0.871000	0.35750	0.655000	0.94253	ACC	-	pfam_Dynein_heavy_dom-2		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	-		11593347	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	G	G	11593347	C	G	11593347	3	3	197	1	0	0	0	0	1	0	0	0	4610	507	18	4	4286	4	DNAH9	17	11593347	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09		11593347	69601863	45	15678											
ACLY	47	genome.wustl.edu	37	chr17	40025733	40025733	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttttctttgttaccttcgaGgtggtaatcttctctacttc	6	9	3	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:40025733G>C	ENST00000352035.2	-	26	3175	c.3045C>G	c.(3043-3045)acC>acG	p.T1015T	ACLY_ENST00000537919.1_Silent_p.T744T|ACLY_ENST00000590151.1_Silent_p.T1015T|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Silent_p.T1005T|ACLY_ENST00000353196.1_Silent_p.T1005T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1015					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTACCTTCGAGGTGGTAATCT	0.453																																					Colon(64;807 1396 15971 30971)												0								ENSG00000131473						167	149	155					17																	40025733		2203	4300	6503	ACLY	SO:0001819	synonymous_variant	0			-	HGNC	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3045C>G	17.37:g.40025733G>C		Somatic	0	40	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP							pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.T1015	ENST00000352035.2	37	c.3045	CCDS11412.1	17																																																																																			-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase		0.453	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	protein_coding	OTTHUMT00000257465.1	G	NM_001096	-		40025733	-1	no_errors	ENST00000352035	ensembl	human	known	74_37	silent	SNP	0.903	C	C	40025733	G	C	40025733	2	2	197	1	0	0	0	0	0	0	0	1	143	987	35	4		4	ACLY	17	40025733	Silent	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	28432386	40025733	41169477	46	15679											
CCDC43	124808	genome.wustl.edu	37	chr17	42759385	42759385	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggatattcctcttcatctgtCacatcagcatactgggccag	8	12	5	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:42759385C>G	ENST00000315286.8	-	3	422	c.414G>C	c.(412-414)gtG>gtC	p.V138V	CCDC43_ENST00000457422.2_Silent_p.V138V|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Silent_p.V138V	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	138										lung(2)	2		Prostate(33;0.0322)				CTTCATCTGTCACATCAGCAT	0.478																																																	0								ENSG00000180329						198	192	194					17																	42759385		1996	4165	6161	CCDC43	SO:0001819	synonymous_variant	0			-	HGNC	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.414G>C	17.37:g.42759385C>G		Somatic	0	43	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	48	28.36	C9JVK9	Silent	SNP							NULL	p.V138	ENST00000315286.8	37	c.414	CCDS45704.1	17																																																																																			-	NULL		0.478	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	protein_coding	OTTHUMT00000457812.1	C	NM_144609	-		42759385	-1	no_errors	ENST00000315286	ensembl	human	known	74_37	silent	SNP	1.000	G	G	42759385	C	G	42759385	2	3	197	1	0	0	0	0	0	0	0	1	2817	813	29	4		4	CCDC43	17	42759385	Silent	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	2733652	42759385	38435825	47	15680											
FASN	2194	genome.wustl.edu	37	chr17	80042159	80042159	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggtgacagcaggacagaggTggccaggcccttggcaggca	17	11	0	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:80042159T>A	ENST00000306749.2	-	28	5088	c.4870A>T	c.(4870-4872)Acc>Tcc	p.T1624S	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1624					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGGACAGAGGTGGCCAGGCCC	0.652																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						65	61	62					17																	80042159		2195	4292	6487	FASN	SO:0001583	missense	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4870A>T	17.37:g.80042159T>A	ENSP00000304592:p.Thr1624Ser	Somatic	0	18	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP							pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.T1624S	ENST00000306749.2	37	c.4870	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872586	0.72180	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.27720	1.65	4.66	4.66	0.58398	GroES-like (1);Polyketide synthase, enoylreductase (1);	0.052433	0.85682	D	0.000000	T	0.47154	0.1430	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44711	-0.9310	10	0.54805	T	0.06	-58.2553	14.0844	0.64947	0.0:0.0:0.0:1.0	.	1624	P49327	FAS_HUMAN	S	1624;589	ENSP00000304592:T1624S	ENSP00000304592:T1624S	T	-	1	0	FASN	77635448	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.846000	0.69444	1.730000	0.51580	0.402000	0.26972	ACC	-	superfamily_GroES-like,smart_PKS_ER		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	T	NM_004104	-		80042159	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80042159	T	A	80042159	3	1	197	1	0	0	0	0	1	0	0	0	5685	1696	59	5	2729	5	FASN	17	80042159	Missense_Mutation	SNP	T	TCGA-QC-AA9N-01A-11D-A38Z-09	37282774	80042159	1153051	48	15681											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21892054	21892054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagcagaatgttcttctAttgcttccagccagtcctga	8	10	2	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr18:21892054A>G	ENST00000319481.3	-	13	1192	c.986T>C	c.(985-987)aTa>aCa	p.I329T	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	329	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGTTCTTCTATTGCTTCCAG	0.393																																																	0								ENSG00000141447						129	121	124					18																	21892054		2203	4300	6503	OSBPL1A	SO:0001583	missense	0			-	HGNC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.986T>C	18.37:g.21892054A>G	ENSP00000320291:p.Ile329Thr	Somatic	0	39	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	5	86.84	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.I329T	ENST00000319481.3	37	c.986	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052634	0.75960	.	.	ENSG00000141447	ENST00000319481	T	0.49432	0.78	5.21	5.21	0.72293	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.316385	0.33792	N	0.004558	T	0.44414	0.1292	L	0.46157	1.445	0.80722	D	1	P;B	0.43094	0.799;0.421	B;B	0.40228	0.323;0.156	T	0.48468	-0.9033	10	0.56958	D	0.05	-16.1887	15.3518	0.74396	1.0:0.0:0.0:0.0	.	329;329	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	T	329	ENSP00000320291:I329T	ENSP00000320291:I329T	I	-	2	0	OSBPL1A	20146052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.292000	0.89930	2.080000	0.62538	0.533000	0.62120	ATA	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	protein_coding	OTTHUMT00000254902.1	A	NM_080597	-		21892054	-1	no_errors	ENST00000319481	ensembl	human	known	74_37	missense	SNP	1.000	G	G	21892054	A	G	21892054	3	3	197	1	0	0	0	0	1	0	0	0	11279	449	16	5	1930	5	OSBPL1A	18	21892054	Missense_Mutation	SNP	A	TCGA-QC-AA9N-01A-11D-A38Z-09		21892054	56185194	49	15682											
ZNF521	25925	genome.wustl.edu	37	chr18	22807082	22807082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagcattcggggtggcacTctgcaatgtgtttttggagg	17	6	1	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr18:22807082T>C	ENST00000361524.3	-	4	948	c.800A>G	c.(799-801)gAg>gGg	p.E267G	ZNF521_ENST00000538137.2_Missense_Mutation_p.E267G|ZNF521_ENST00000584787.1_Missense_Mutation_p.E47G|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	267					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGTGGCACTCTGCAATGTG	0.552			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						129	112	118					18																	22807082		2203	4300	6503	ZNF521	SO:0001583	missense	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.800A>G	18.37:g.22807082T>C	ENSP00000354794:p.Glu267Gly	Somatic	0	77	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	24	63.24	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E267G	ENST00000361524.3	37	c.800	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276255	0.23307	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.28069	2.96;1.63;2.97	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	N	0.14661	0.345	0.36834	D	0.887031	P	0.51933	0.949	P	0.58620	0.842	T	0.27536	-1.0071	10	0.21540	T	0.41	-36.9775	12.3984	0.55399	0.0:0.0:0.1401:0.8599	.	267	Q96K83	ZN521_HUMAN	G	267;301;267	ENSP00000354794:E267G;ENSP00000440768:E301G;ENSP00000382352:E267G	ENSP00000354794:E267G	E	-	2	0	ZNF521	21061080	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.881000	0.69706	2.311000	0.77944	0.533000	0.62120	GAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	T	NM_015461	-		22807082	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	SNP	1.000	C	C	22807082	T	C	22807082	3	2	197	1	0	0	0	0	1	0	0	0	17972	1551	54	5	3155	5	ZNF521	18	22807082	Missense_Mutation	SNP	T	TCGA-QC-AA9N-01A-11D-A38Z-09	915028	22807082	55270166	50	15683											
MBP	4155	genome.wustl.edu	37	chr18	74701989	74701989	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggggcagggagccgtagtGagcagttcttgccgggtggt	19	8	1	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr18:74701989G>C	ENST00000397869.3	-	2	251	c.205C>G	c.(205-207)Cac>Gac	p.H69D	MBP_ENST00000397866.4_Missense_Mutation_p.H69D|MBP_ENST00000526111.1_Missense_Mutation_p.H47D|MBP_ENST00000355994.2_Missense_Mutation_p.H202D|MBP_ENST00000359645.3_Missense_Mutation_p.H95D|MBP_ENST00000397875.3_Missense_Mutation_p.H69D|MBP_ENST00000527041.1_Missense_Mutation_p.H69D|MBP_ENST00000397865.5_Missense_Mutation_p.H69D|MBP_ENST00000580402.1_Missense_Mutation_p.H202D|MBP_ENST00000578193.1_Missense_Mutation_p.H69D|MBP_ENST00000382582.3_Missense_Mutation_p.H95D|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000579129.1_Missense_Mutation_p.H202D			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GAGCCGTAGTGAGCAGTTCTT	0.572																																					NSCLC(17;72 1131 19392)												0								ENSG00000197971						128	116	120					18																	74701989		2203	4300	6503	MBP	SO:0001583	missense	0			-	HGNC		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.205C>G	18.37:g.74701989G>C	ENSP00000380967:p.His69Asp	Somatic	0	35	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP							pfam_Myelin_BP,prints_Myelin_BP	p.H202D	ENST00000397869.3	37	c.604		18	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908242	0.52333	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000527041;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114;ENST00000498683	.	.	.	4.6	4.6	0.57074	.	0.160845	0.42821	D	0.000650	T	0.69124	0.3076	L	0.61218	1.895	0.33079	D	0.536427	D;D;D;D;D	0.67145	0.996;0.987;0.994;0.995;0.995	D;D;D;D;D	0.87578	0.998;0.979;0.983;0.996;0.996	T	0.77981	-0.2383	9	0.72032	D	0.01	-9.1513	14.7605	0.69602	0.0:0.0:1.0:0.0	.	69;202;69;95;95	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	D	95;202;69;69;69;69;95;69;47;69;13;69	.	ENSP00000348273:H202D	H	-	1	0	MBP	72830977	1.000000	0.71417	0.142000	0.22268	0.145000	0.21501	4.945000	0.63568	2.396000	0.81511	0.563000	0.77884	CAC	-	pfam_Myelin_BP		0.572	MBP-024	NOVEL	basic|exp_conf	protein_coding	MBP	protein_coding	OTTHUMT00000267964.1	G	NM_001025081	-		74701989	-1	no_errors	ENST00000355994	ensembl	human	known	74_37	missense	SNP	0.310	C	C	74701989	G	C	74701989	3	2	197	1	0	0	0	0	1	0	0	0	9361	1290	45	4	330	4	MBP	18	74701989	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	51894907	74701989	3375259	51	15684											
NWD1	284434	genome.wustl.edu	37	chr19	16861027	16861027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacagatttgctctgggCcagcctcccagagtgtggga	13	12	1	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr19:16861027C>T	ENST00000552788.1	+	4	1574	c.1574C>T	c.(1573-1575)gCc>gTc	p.A525V	NWD1_ENST00000524140.2_Missense_Mutation_p.A525V|NWD1_ENST00000549814.1_Missense_Mutation_p.A525V|NWD1_ENST00000523826.1_Missense_Mutation_p.A319V|NWD1_ENST00000339803.6_Missense_Mutation_p.A390V|NWD1_ENST00000379808.3_Missense_Mutation_p.A525V			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	525	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGCTCTGGGCCAGCCTCCCA	0.637																																																	0								ENSG00000188039						32	33	33					19																	16861027		2202	4298	6500	NWD1	SO:0001583	missense	0			-	HGNC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1574C>T	19.37:g.16861027C>T	ENSP00000447224:p.Ala525Val	Somatic	0	76	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	59	32.18	C9J021|Q68CT3	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A525V	ENST00000552788.1	37	c.1574		19	.	.	.	.	.	.	.	.	.	.	c	16.29	3.080735	0.55753	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57595	0.4;0.46;0.4;0.39;0.46;0.45	5.04	1.39	0.22231	.	0.804025	0.11554	N	0.552455	T	0.53190	0.1781	L	0.42245	1.32	0.27592	N	0.949247	B;B;D	0.67145	0.142;0.113;0.996	B;B;P	0.60609	0.025;0.055;0.877	T	0.41142	-0.9525	10	0.31617	T	0.26	-20.4879	3.094	0.06303	0.1656:0.4323:0.305:0.0971	.	525;525;390	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	V	390;525;525;525;319;525;390	ENSP00000428579:A525V;ENSP00000447548:A525V;ENSP00000369136:A525V;ENSP00000428955:A319V;ENSP00000447224:A525V;ENSP00000340159:A390V	ENSP00000340159:A390V	A	+	2	0	NWD1	16722027	1.000000	0.71417	0.994000	0.49952	0.679000	0.39708	1.369000	0.34227	0.473000	0.27368	0.549000	0.68633	GCC	-	superfamily_P-loop_NTPase		0.637	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	protein_coding	OTTHUMT00000403569.1	C	NM_001007525	-		16861027	1	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16861027	C	T	16861027	3	4	197	1	0	0	0	0	1	0	0	0	10783	739	26	2	1175	2	NWD1	19	16861027	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09		16861027	42267956	52	15685											
FIZ1	84922	genome.wustl.edu	37	chr19	56108990	56108990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccttggggcaggcagagCagcggtagggccgctccccg	16	15	0	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr19:56108990C>T	ENST00000221665.3	-	2	331	c.242G>A	c.(241-243)tGc>tAc	p.C81Y	FIZ1_ENST00000592585.1_Intron|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	81					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCAGGCAGAGCAGCGGTAGGG	0.682																																																	0								ENSG00000179943						37	35	36					19																	56108990		2203	4300	6503	FIZ1	SO:0001583	missense	0			-	HGNC	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.242G>A	19.37:g.56108990C>T	ENSP00000221665:p.Cys81Tyr	Somatic	0	45	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	19.57	A2RU72|Q6ZMJ7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C81Y	ENST00000221665.3	37	c.242	CCDS12928.1	19	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146689	0.57151	.	.	ENSG00000179943	ENST00000221665	D	0.85088	-1.94	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92169	0.7517	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93463	0.6812	9	0.87932	D	0	-26.0308	14.463	0.67465	0.0:1.0:0.0:0.0	.	81	Q96SL8	FIZ1_HUMAN	Y	81	ENSP00000221665:C81Y	ENSP00000221665:C81Y	C	-	2	0	FIZ1	60800802	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.184000	0.77705	2.017000	0.59298	0.462000	0.41574	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIZ1	protein_coding	OTTHUMT00000453350.1	C	NM_032836	-		56108990	-1	no_errors	ENST00000221665	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56108990	C	T	56108990	3	4	197	1	0	0	0	0	1	0	0	0	5902	710	25	2	1256	2	FIZ1	19	56108990	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	39247963	56108990	3019993	53	15686											
TP53TG5	27296	genome.wustl.edu	37	chr20	44002615	44002615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcgcgatctccaccctcTgctcgcacctctggctctcg	9	18	4	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr20:44002615T>C	ENST00000372726.3	-	5	961	c.805A>G	c.(805-807)Aga>Gga	p.R269G	TP53TG5_ENST00000537995.1_Missense_Mutation_p.R253G|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	269					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTCCACCCTCTGCTCGCACCT	0.562											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000124251						147	121	130					20																	44002615		2203	4300	6503	TP53TG5	SO:0001583	missense	0			-	HGNC	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.805A>G	20.37:g.44002615T>C	ENSP00000361811:p.Arg269Gly	Somatic	0	45	0	920	0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33		Missense_Mutation	SNP							NULL	p.R269G	ENST00000372726.3	37	c.805	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951341	0.53186	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.10477	2.87;2.87	2.93	0.502	0.16932	.	0.336297	0.21488	N	0.073734	T	0.07007	0.0178	L	0.29908	0.895	0.09310	N	1	P	0.42518	0.782	B	0.40375	0.327	T	0.24584	-1.0156	10	0.87932	D	0	0.0168	3.5583	0.07873	0.2276:0.0:0.2358:0.5366	.	269	Q9Y2B4	T53G5_HUMAN	G	269;253	ENSP00000361811:R269G;ENSP00000438374:R253G	ENSP00000361811:R269G	R	-	1	2	TP53TG5	43436029	0.000000	0.05858	0.001000	0.08648	0.190000	0.23558	-1.255000	0.02872	0.068000	0.16574	0.460000	0.39030	AGA	-	NULL		0.562	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	protein_coding	OTTHUMT00000079460.1	T	NM_014477	-		44002615	-1	no_errors	ENST00000372726	ensembl	human	known	74_37	missense	SNP	0.001	C	C	44002615	T	C	44002615	3	2	197	1	0	0	0	0	1	0	0	0	16398	1588	55	5	71	5	TP53TG5	20	44002615	Missense_Mutation	SNP	T	TCGA-QC-AA9N-01A-11D-A38Z-09		44002615	19022905	54	15687											
PREX1	57580	genome.wustl.edu	37	chr20	47271871	47271871	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtggggcagctccacgaatCtggaagcacagtgtgtccgg	16	10	1	0			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr20:47271871C>A	ENST00000371941.3	-	19	2188	c.2166G>T	c.(2164-2166)caG>caT	p.Q722H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q722H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	722					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCCACGAATCTGGAAGCACA	0.557																																																	0								ENSG00000124126						135	95	109					20																	47271871		2203	4300	6503	PREX1	SO:0001583	missense	0			-	HGNC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2166G>T	20.37:g.47271871C>A	ENSP00000361009:p.Gln722His	Somatic	0	58	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP							pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q722H	ENST00000371941.3	37	c.2166	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191027	0.78789	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.46451	0.87;0.87	4.85	4.85	0.62838	PDZ/DHR/GLGF (2);	0.000000	0.52532	U	0.000074	T	0.60881	0.2303	L	0.59436	1.845	0.53005	D	0.999964	D;D	0.69078	0.994;0.997	P;D	0.65573	0.873;0.936	T	0.65459	-0.6163	10	0.87932	D	0	.	17.991	0.89169	0.0:1.0:0.0:0.0	.	722;19	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	H	722	ENSP00000361009:Q722H;ENSP00000379522:Q722H	ENSP00000361009:Q722H	Q	-	3	2	PREX1	46705278	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	4.259000	0.58828	2.228000	0.72767	0.655000	0.94253	CAG	-	superfamily_PDZ,smart_PDZ		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	C	NM_020820	-		47271871	-1	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47271871	C	A	47271871	3	1	197	1	0	0	0	0	1	0	0	0	12481	912	32	3	2901	3	PREX1	20	47271871	Missense_Mutation	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09	3269256	47271871	15753649	55	15688											
MX1	4599	genome.wustl.edu	37	chr21	42807952	42807952	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagttgcccttcccagaggCagcggtaagaacttacattc	11	11	0	2			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr21:42807952C>G	ENST00000398600.2	+	8	1319	c.294C>G	c.(292-294)ggC>ggG	p.G98G	MX1_ENST00000398598.3_Silent_p.G98G|MX1_ENST00000288383.6_Intron|MX1_ENST00000455164.2_Silent_p.G98G	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	98	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTCCCAGAGGCAGCGGTAAGA	0.532																																																	0								ENSG00000157601						62	67	66					21																	42807952		2203	4300	6503	MX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.294C>G	21.37:g.42807952C>G		Somatic	0	29	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.G98	ENST00000398600.2	37	c.294	CCDS13673.1	21																																																																																			-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF		0.532	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	protein_coding	OTTHUMT00000195161.2	C		-		42807952	1	no_errors	ENST00000398598	ensembl	human	known	74_37	silent	SNP	1.000	G	G	42807952	C	G	42807952	2	3	197	1	0	0	0	0	0	0	0	1	9999	697	25	4		4	MX1	21	42807952	Silent	SNP	C	TCGA-QC-AA9N-01A-11D-A38Z-09		42807952	5321943	56	15689											
COL18A1	80781	genome.wustl.edu	37	chr21	46924417	46924434	+	In_Frame_Del	DEL	GGCCCCCCCGGCCCCCCA	GGCCCCCCCGGCCCCCCA	-													tcttcggctccagcctgcccGgcccccccggccccccaggc					rs543392161|rs149296338|rs201180574|rs78227997|rs531174886|rs28696990	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	GGCCCCCCCGGCCCCCCA	GGCCCCCCCGGCCCCCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr21:46924417_46924434delGGCCCCCCCGGCCCCCCA	ENST00000359759.4	+	33	4081_4098	c.4060_4077delGGCCCCCCCGGCCCCCCA	c.(4060-4077)ggcccccccggccccccadel	p.GPPGPP1354del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.GPPGPP939del|COL18A1_ENST00000355480.5_In_Frame_Del_p.GPPGPP1119del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1354	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGCCTgcccggcccccccggccccccaggccccccag	0.702														83	0.0165735	0.0469	0.0101	5008	,	,		12766	0.002		0.007	False		,,,				2504	0.0051																0								ENSG00000182871		,	94,2098		23,48,1025					,	-8.8	0		dbSNP_130	6	160,5110		21,118,2496	no	coding,coding	COL18A1	NM_130445.2,NM_030582.3	,	44,166,3521	A1A1,A1R,RR		3.0361,4.2883,3.4039	,	,		254,7208				COL18A1	SO:0001651	inframe_deletion	0				HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4060_4077delGGCCCCCCCGGCCCCCCA	21.37:g.46924417_46924434delGGCCCCCCCGGCCCCCCA	ENSP00000352798:p.Gly1354_Pro1359del	Somatic					0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.GPPGPP1357in_frame_del	ENST00000359759.4	37	c.4060_4077		21																																																																																			-	NULL		0.702	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	GGCCCCCCCGGCCCCCCA				46924434	1	no_errors	ENST00000359759	ensembl	human	known	74_37	in_frame_del	DEL	0.865:0.877:0.309:0.348:0.431:0.420:0.400:0.361:0.198:0.307:0.391:0.336:0.964:0.952:0.917:0.918:0.919:0.837	-	-	46924434	GGCCCCCCCGGCCCCCCA	-	46924417	7	5	197	1	0	1	0	1	0	0	0	0	3677	1116	39	0	4304	0	COL18A1	21	46924417	In_Frame_Del	DEL	GGCCCCCCCGGCCCCCCA	TCGA-QC-AA9N-01A-11D-A38Z-09	4116465	46924417	1205478	57	15690											
EIF1AX	1964	genome.wustl.edu	37	chrX	20156712	20156712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcattctcattcttAcccctgcgtctgtttttacc	4	13	5	1			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chrX:20156712A>G	ENST00000379607.5	-	2	248	c.45T>C	c.(43-45)ggT>ggC	p.G15G	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTCATTCTTACCCCTGCGTC	0.308																																																	0								ENSG00000173674						165	153	157					X																	20156712		2203	4300	6503	EIF1AX	SO:0001819	synonymous_variant	0			-	HGNC	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.45T>C	X.37:g.20156712A>G		Somatic	0	100	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	81	31.36	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Silent	SNP							pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A	p.G15	ENST00000379607.5	37	c.45	CCDS14196.1	X																																																																																			-	superfamily_NA-bd_OB-fold,tigrfam_TIF_eIF-1A		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1AX	protein_coding	OTTHUMT00000058913.1	A		-		20156712	-1	no_errors	ENST00000379607	ensembl	human	known	74_37	silent	SNP	1.000	G	G	20156712	A	G	20156712	2	3	197	1	0	0	0	0	0	0	0	1	4994	378	14	5		5	EIF1AX	23	20156712	Silent	SNP	A	TCGA-QC-AA9N-01A-11D-A38Z-09		20156712	135113848	58	15691											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765205	27765205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatggtggattccccaacGatgccagcacagaaaatcga	12	10	0	1	rs199614366		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chrX:27765205G>A	ENST00000451261.2	+	5	592	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	65								p.D65N(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTCCCCAACGATGCCAGCAC	0.522																																																	1	Substitution - Missense(1)	pancreas(1)						ENSG00000189186						75	59	64					X																	27765205		692	1591	2283	DCAF8L2	SO:0001583	missense	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.193G>A	X.37:g.27765205G>A	ENSP00000462745:p.Asp65Asn	Somatic	0	62	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	B2RXH9|J3KT06	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D65N	ENST00000451261.2	37	c.193	CCDS59162.1	X																																																																																			-	NULL		0.522	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	G	XM_293354	-		27765205	1	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	SNP	0.000	A	A	27765205	G	A	27765205	3	1	197	1	0	0	0	0	1	0	0	0	4280	1058	37	1	195	1	DCAF8L2	23	27765205	Missense_Mutation	SNP	G	TCGA-QC-AA9N-01A-11D-A38Z-09	7608493	27765205	127505355	59	15692											
ATRX	546	genome.wustl.edu	37	chrX	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-													cagactgggtttgtcgtttcTttttagaaattatagagctc							TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGTCGTTTCTTTTTAGAAAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						97	106	103					X																	76938331		2201	4293	6494	ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2417delA	X.37:g.76938331delT	ENSP00000362441:p.Lys807fs	Somatic	0	93	0		0.722790448538876				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	28	54.10	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K806fs	ENST00000373344.5	37	c.2417	CCDS14434.1	X																																																																																			-	NULL		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489			76938331	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	76938331	T	-	76938331	7	5	197	1	0	1	0	1	0	0	0	0	1208	1609	56	0	5169	0	ATRX	23	76938331	Frame_Shift_Del	DEL	T	TCGA-QC-AA9N-01A-11D-A38Z-09	49173126	76938331	78332229	60	15693											
NOL9	79707	genome.wustl.edu	37	chr1	6585914	6585914	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattaaaaacgcgagcaTcacttcatttttcgacagaa	5	10	2	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr1:6585914T>C	ENST00000377705.5	-	12	2141	c.2109A>G	c.(2107-2109)tgA>tgG	p.*703W		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	0					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AACGCGAGCATCACTTCATTT	0.433																																																	0								ENSG00000162408						187	180	183					1																	6585914		2203	4300	6503	NOL9	SO:0001578	stop_lost	0			-	HGNC	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.2109A>G	1.37:g.6585914T>C	ENSP00000366934:p.*703Cysext*5	Somatic	0	74	0		0.452634715150208	20	33.33	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	45	32.84	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Nonstop_Mutation	SNP							pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.*703W	ENST00000377705.5	37	c.2109	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	T	2.411	-0.335241	0.05278	.	.	ENSG00000162408	ENST00000377705	.	.	.	3.43	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6706	0.17721	0.0:0.1422:0.0:0.8578	.	.	.	.	W	703	.	.	X	-	3	0	NOL9	6508501	0.001000	0.12720	0.144000	0.22314	0.034000	0.12701	0.012000	0.13287	1.343000	0.45638	0.460000	0.39030	TGA	-	NULL		0.433	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	protein_coding	OTTHUMT00000002625.1	T	NM_024654	-		6585914	-1	no_errors	ENST00000377705	ensembl	human	known	74_37	nonstop	SNP	0.126	C	C	6585914	T	C	6585914	4	2	198	1	0	0	0	0	0	0	0	0	10530	1448	50	5	3	5	NOL9	1	6585914	Nonstop_Mutation	SNP	T	TCGA-QQ-A5V2-01A-11D-A32I-09		6585914	242664707	1	15694											
OXCT2	64064	genome.wustl.edu	37	chr1	40235448	40235448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgtgctctttttgatgtCgtccaccgtcaggccctccc	8	18	2	1	rs150795467	byFrequency	TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr1:40235448C>T	ENST00000327582.5	-	1	1572	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	494					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTTTTGATGTCGTCCACCGTC	0.632																																																	0								ENSG00000198754						41	40	40					1																	40235448		2203	4299	6502	OXCT2	SO:0001583	missense	0			-	HGNC	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1480G>A	1.37:g.40235448C>T	ENSP00000361914:p.Asp494Asn	Somatic	0	54	0		0.452634715150208	9	59.09	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	74	9.76	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP							pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.D494N	ENST00000327582.5	37	c.1480	CCDS445.1	1	.	.	.	.	.	.	.	.	.	.	c	14.42	2.530386	0.45073	.	.	ENSG00000198754	ENST00000327582	D	0.93247	-3.19	2.51	2.51	0.30379	3-oxoacid CoA-transferase, subunit B (1);	0.052044	0.64402	U	0.000001	D	0.94202	0.8139	.	.	.	0.37421	P	0.086372	D;D	0.60575	0.988;0.988	P;P	0.55785	0.784;0.71	D	0.95837	0.8863	8	0.62326	D	0.03	.	11.1506	0.48455	0.0:1.0:0.0:0.0	.	494;494	B3KS89;Q9BYC2	.;SCOT2_HUMAN	N	494	ENSP00000361914:D494N	ENSP00000361914:D494N	D	-	1	0	OXCT2	40008035	0.937000	0.31787	0.010000	0.14722	0.096000	0.18686	3.036000	0.49767	1.698000	0.51180	0.556000	0.70494	GAC	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B		0.632	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	protein_coding	OTTHUMT00000025656.1	C	NM_022120	rs150795467		40235448	-1	no_errors	ENST00000327582	ensembl	human	known	74_37	missense	SNP	0.171	T	T	40235448	C	T	40235448	3	4	198	1	0	0	0	0	1	0	0	0	11332	884	31	1	77	1	OXCT2	1	40235448	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09	33649534	40235448	209015173	2	15695											
SH3GLB1	51100	genome.wustl.edu	37	chr1	87208874	87208874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatgggggaaaggggaaacCagaagggcaaggtgccaatt	16	5	0	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr1:87208874C>A	ENST00000370558.4	+	9	1378	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.Q373K|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.Q252K	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	352	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AAGGGGAAACCAGAAGGGCAA	0.388																																																	0								ENSG00000097033						156	157	157					1																	87208874		2203	4300	6503	SH3GLB1	SO:0001583	missense	0			-	HGNC	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.1054C>A	1.37:g.87208874C>A	ENSP00000473267:p.Gln352Lys	Somatic	0	88	0		0.452634715150208	323	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP							pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.Q373K	ENST00000370558.4	37	c.1117	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952912	0.53293	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.44881	0.91;0.91	5.82	5.82	0.92795	Src homology-3 domain (4);	0.111022	0.64402	D	0.000006	T	0.40694	0.1127	N	0.20986	0.625	0.80722	D	1	D;D;B	0.69078	0.997;0.997;0.106	D;D;B	0.78314	0.991;0.984;0.05	T	0.08743	-1.0707	10	0.15499	T	0.54	-5.1617	20.104	0.97884	0.0:1.0:0.0:0.0	.	252;373;352	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	K	352;252;373	ENSP00000441355:Q252K;ENSP00000418744:Q373K	ENSP00000212369:Q352K	Q	+	1	0	SH3GLB1	86981462	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.909000	0.69923	2.755000	0.94549	0.563000	0.77884	CAG	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.388	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	protein_coding	OTTHUMT00000028287.2	C	NM_016009	-		87208874	1	no_errors	ENST00000482504	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87208874	C	A	87208874	3	1	198	1	0	0	0	0	1	0	0	0	14261	595	21	3	1088	3	SH3GLB1	1	87208874	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09	46973426	87208874	162041747	3	15696											
DRAM2	128338	genome.wustl.edu	37	chr1	111667503	111667518	+	Splice_Site	DEL	CCTGGGAAAAGATAAT	CCTGGGAAAAGATAAT	-													gaacataaatggtagcaatgCctgggaaaagataatccaaa							TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	CCTGGGAAAAGATAAT	CCTGGGAAAAGATAAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr1:111667503_111667518delCCTGGGAAAAGATAAT	ENST00000286692.4	-	5	817	c.200delATTATCTTTTCCCAGG	c.(199-201)tat>tt	p.Y67fs	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Splice_Site_p.Y67fs			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	67					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						GGTAGCAATGCCTGGGAAAAGATAATCCAAAAAACA	0.343																																																	0								ENSG00000156171																																			DRAM2	SO:0001630	splice_region_variant	0				HGNC	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"transmembrane protein 77"	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.200-1ATTATCTTTTCCCAGG>-	1.37:g.111667503_111667518delCCTGGGAAAAGATAAT		Somatic					0.452634715150208	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Frame_Shift_Del	DEL							pfam_Frag1/DRAM/Sfk1	p.C67fs	ENST00000286692.4	37	c.200	CCDS30801.1	1																																																																																			-	pfam_Frag1/DRAM/Sfk1		0.343	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM2	protein_coding	OTTHUMT00000032930.3	CCTGGGAAAAGATAAT	NM_178454		Frame_Shift_Del	111667518	-1	no_errors	ENST00000286692	ensembl	human	known	74_37	frame_shift_del	DEL	0.992	-	-	111667518	CCTGGGAAAAGATAAT	-	111667503	8	5	198	1	0	1	0	1	0	0	1	0	4756	753	26	0	620	0	DRAM2	1	111667503	Splice_Site	DEL	CCTGGGAAAAGATAAT	TCGA-QQ-A5V2-01A-11D-A32I-09	24458629	111667503	137583118	4	15697											
DNAH6	1768	genome.wustl.edu	37	chr2	84915647	84915647	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctacaggactatcttgatGattataatctcacaaatccc	4	10	3	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr2:84915647G>T	ENST00000237449.6	+	44	7230	c.7222G>T	c.(7222-7224)Gat>Tat	p.D2408Y	DNAH6_ENST00000398278.2_Missense_Mutation_p.D2359Y|DNAH6_ENST00000389394.3_Missense_Mutation_p.D2408Y|DNAH6_ENST00000602588.1_Missense_Mutation_p.D380Y			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2408	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTATCTTGATGATTATAATCT	0.368																																																	0								ENSG00000115423						238	209	218					2																	84915647		692	1590	2282	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7222G>T	2.37:g.84915647G>T	ENSP00000237449:p.Asp2408Tyr	Somatic	0	44	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D2408Y	ENST00000237449.6	37	c.7222	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296676	0.81025	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26518	1.73;1.85;1.73	5.73	5.73	0.89815	.	.	.	.	.	T	0.64394	0.2594	H	0.94964	3.605	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	P;D	0.75020	0.897;0.985	T	0.74595	-0.3613	9	0.87932	D	0	.	18.6717	0.91514	0.0:0.0:1.0:0.0	.	2408;2359	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	Y	2408;2359;2408	ENSP00000374045:D2408Y;ENSP00000381326:D2359Y;ENSP00000237449:D2408Y	ENSP00000237449:D2408Y	D	+	1	0	DNAH6	84769158	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.953000	0.87836	2.709000	0.92574	0.655000	0.94253	GAT	-	superfamily_P-loop_NTPase		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	G	NM_001370	-		84915647	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84915647	G	T	84915647	3	4	198	1	0	0	0	0	1	0	0	0	4607	1290	45	3	7396	3	DNAH6	2	84915647	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		84915647	158283726	5	15698											
GCG	2641	genome.wustl.edu	37	chr2	163000587	163000587	+	Frame_Shift_Del	DEL	A	A	-													tttataaagtccctggcggcAagattatcaagaatggtgtt							TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr2:163000587delA	ENST00000418842.2	-	5	740	c.486delT	c.(484-486)cttfs	p.L162fs	GCG_ENST00000375497.3_Frame_Shift_Del_p.L162fs	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	162					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CCCTGGCGGCAAGATTATCAA	0.403																																																	0								ENSG00000115263						90	86	87					2																	163000587		1873	4114	5987	GCG	SO:0001589	frameshift_variant	0				HGNC		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.486delT	2.37:g.163000587delA	ENSP00000387662:p.Leu162fs	Somatic	0	53	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	A6NN65|Q53TP6	Frame_Shift_Del	DEL							pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.A163fs	ENST00000418842.2	37	c.486	CCDS46439.1	2																																																																																			-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP		0.403	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	protein_coding	OTTHUMT00000332860.1	A	NM_002054			163000587	-1	no_errors	ENST00000375497	ensembl	human	known	74_37	frame_shift_del	DEL	0.979	-	-	163000587	A	-	163000587	7	5	198	1	0	1	0	1	0	0	0	0	6292	117	5	0	64	0	GCG	2	163000587	Frame_Shift_Del	DEL	A	TCGA-QQ-A5V2-01A-11D-A32I-09	78084940	163000587	80198786	6	15699											
CHL1	10752	genome.wustl.edu	37	chr3	432653	432653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagataaattggtggaaaAcaaaaagtctgttggatgga	12	3	1	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr3:432653A>G	ENST00000256509.2	+	22	3244	c.2602A>G	c.(2602-2604)Aca>Gca	p.T868A	CHL1_ENST00000397491.2_Missense_Mutation_p.T852A	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					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)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGTGGAAAACAAAAAGTCT	0.348																																																	0								ENSG00000134121						60	63	62					3																	432653		2203	4300	6503	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2602A>G	3.37:g.432653A>G	ENSP00000256509:p.Thr868Ala	Somatic	0	65	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T868A	ENST00000256509.2	37	c.2602	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	A	9.031	0.987200	0.18889	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56941	0.43;0.43	5.75	3.33	0.38152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.378776	0.30890	N	0.008673	T	0.39009	0.1062	L	0.42245	1.32	0.30650	N	0.755574	B;B;B	0.27351	0.176;0.176;0.12	B;B;B	0.32289	0.122;0.122;0.143	T	0.34403	-0.9830	10	0.10902	T	0.67	.	6.0253	0.19652	0.7222:0.1388:0.139:0.0	.	852;852;868	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	A	868;852	ENSP00000256509:T868A;ENSP00000380628:T852A	ENSP00000256509:T868A	T	+	1	0	CHL1	407653	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	2.431000	0.44775	0.432000	0.26286	-0.313000	0.08912	ACA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.348	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	A	NM_006614	-		432653	1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	0.996	G	G	432653	A	G	432653	3	3	198	1	0	0	0	0	1	0	0	0	3351	43	2	5	2680	5	CHL1	3	432653	Missense_Mutation	SNP	A	TCGA-QQ-A5V2-01A-11D-A32I-09		432653	197589777	7	15700											
RAD18	56852	genome.wustl.edu	37	chr3	8944165	8944165	+	Frame_Shift_Del	DEL	T	T	-													tcttgtatccttttctagccTgatccaccagaagctgaaat							TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr3:8944165delT	ENST00000264926.2	-	10	1183	c.1067delA	c.(1066-1068)cagfs	p.Q356fs		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	356					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTTTCTAGCCTGATCCACCAG	0.338								Rad6 pathway																																									0								ENSG00000070950						148	138	142					3																	8944165		2203	4300	6503	RAD18	SO:0001589	frameshift_variant	0				HGNC		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1067delA	3.37:g.8944165delT	ENSP00000264926:p.Gln356fs	Somatic	0	54	0		0.452634715150208	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q58F55|Q9NRT6	Frame_Shift_Del	DEL							pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom	p.Q356fs	ENST00000264926.2	37	c.1067	CCDS2571.1	3																																																																																			-	NULL		0.338	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	protein_coding	OTTHUMT00000207071.2	T	NM_020165			8944165	-1	no_errors	ENST00000264926	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	8944165	T	-	8944165	7	5	198	1	0	1	0	1	0	0	0	0	12988	1580	55	0	436	0	RAD18	3	8944165	Frame_Shift_Del	DEL	T	TCGA-QQ-A5V2-01A-11D-A32I-09	8511512	8944165	189078265	8	15701											
VEPH1	79674	genome.wustl.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T													atgctttcactttgctgaggINStttttttttaagtgcaagta							TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396																																																	0								ENSG00000197415																																			VEPH1	SO:0001589	frameshift_variant	0				HGNC	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1662dupA	3.37:g.157081235_157081235dupT	ENSP00000354919:p.Asn554fs	Somatic	0	54	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Ins	INS							pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N554fs	ENST00000362010.2	37	c.1662_1661	CCDS3179.1	3																																																																																			-	NULL		0.396	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	protein_coding	OTTHUMT00000351845.3	-	NM_024621			157081227	-1	no_errors	ENST00000362010	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	157081227	-	T	157081226	7	5	198	1	0	1	1	0	0	0	0	0	17161	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-QQ-A5V2-01A-11D-A32I-09	148137061	157081226	40941204	9	15702											
CWH43	80157	genome.wustl.edu	37	chr4	49040171	49040171	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccagagattatctaCagctcactgaacatggcaat	8	11	2	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr4:49040171C>G	ENST00000226432.4	+	13	1960	c.1777C>G	c.(1777-1779)Cag>Gag	p.Q593E	CWH43_ENST00000513409.1_Missense_Mutation_p.Q566E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	593					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGATTATCTACAGCTCACTGA	0.328																																																	0								ENSG00000109182						126	135	132					4																	49040171		2203	4300	6503	CWH43	SO:0001583	missense	0			-	HGNC		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1777C>G	4.37:g.49040171C>G	ENSP00000226432:p.Gln593Glu	Somatic	0	71	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RPD7	Missense_Mutation	SNP							superfamily_Endo/exonuclease/phosphatase	p.Q593E	ENST00000226432.4	37	c.1777	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	2.233	-0.375715	0.05034	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29142	1.58;1.58	3.99	3.11	0.35812	Endonuclease/exonuclease/phosphatase (1);	0.251565	0.28510	N	0.015084	T	0.12518	0.0304	N	0.04508	-0.205	0.24962	N	0.991724	B	0.14438	0.01	B	0.11329	0.006	T	0.24764	-1.0151	9	.	.	.	.	8.6329	0.33930	0.1707:0.6635:0.1658:0.0	.	593	Q9H720	PG2IP_HUMAN	E	593;566	ENSP00000226432:Q593E;ENSP00000422802:Q566E	.	Q	+	1	0	CWH43	48734928	0.886000	0.30341	0.746000	0.31095	0.960000	0.62799	1.426000	0.34870	1.230000	0.43646	0.555000	0.69702	CAG	-	superfamily_Endo/exonuclease/phosphatase		0.328	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	protein_coding	OTTHUMT00000250496.2	C	NM_025087	-		49040171	1	no_errors	ENST00000226432	ensembl	human	known	74_37	missense	SNP	0.674	G	G	49040171	C	G	49040171	3	3	198	1	0	0	0	0	1	0	0	0	4075	479	17	4	1827	4	CWH43	4	49040171	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09		49040171	142114105	10	15703											
DNAH5	1767	genome.wustl.edu	37	chr5	13770859	13770859	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagaacatcacacttaccTgttggccagggtccgcacct	8	13	1	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr5:13770859T>G	ENST00000265104.4	-	56	9708	c.9604A>C	c.(9604-9606)Aga>Cga	p.R3202R	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3202	Stalk. {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)					CACACTTACCTGTTGGCCAGG	0.463									Kartagener syndrome																																								0								ENSG00000039139						72	67	68					5																	13770859		2203	4300	6503	DNAH5	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.9605+1A>C	5.37:g.13770859T>G		Somatic	0	35	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3202	ENST00000265104.4	37	c.9604	CCDS3882.1	5																																																																																			-	superfamily_P-loop_NTPase		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	T	NM_001369	-	Silent	13770859	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	SNP	1.000	G	G	13770859	T	G	13770859	5	3	198	1	0	0	0	0	0	0	1	0	4606	1594	55	5	4366	5	DNAH5	5	13770859	Splice_Site	SNP	T	TCGA-QQ-A5V2-01A-11D-A32I-09		13770859	167144401	11	15704											
WNT8A	7478	genome.wustl.edu	37	chr5	137426397	137426397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgagagctgggaacagcGccgagggccactgggtgccc	17	12	0	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr5:137426397G>T	ENST00000398754.1	+	6	696	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	WNT8A_ENST00000506684.1_Missense_Mutation_p.A249S	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	231					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGAACAGCGCCGAGGGCCA	0.547																																																	0								ENSG00000061492						44	48	47					5																	137426397		1942	4148	6090	WNT8A	SO:0001583	missense	0			-	HGNC	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"Wingless-type MMTV integration sites"	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.691G>T	5.37:g.137426397G>T	ENSP00000381739:p.Ala231Ser	Somatic	0	53	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q96S51	Missense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.A231S	ENST00000398754.1	37	c.691	CCDS43368.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778171	0.90195	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.75821	-0.97;-0.97;-0.97	4.85	4.85	0.62838	.	0.173757	0.51477	D	0.000094	D	0.84009	0.5378	L	0.58669	1.825	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	0.83507	0.0078	10	0.42905	T	0.14	.	18.1622	0.89712	0.0:0.0:1.0:0.0	.	249;249;231	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	S	249;249;231	ENSP00000426653:A249S;ENSP00000424809:A249S;ENSP00000381739:A231S	ENSP00000354726:A231S	A	+	1	0	WNT8A	137454296	1.000000	0.71417	0.961000	0.40146	0.936000	0.57629	9.657000	0.98554	2.527000	0.85204	0.557000	0.71058	GCC	-	pfam_Wnt,smart_Wnt,prints_Wnt8		0.547	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8A	protein_coding	OTTHUMT00000280395.1	G	NM_058244	-		137426397	1	no_errors	ENST00000361560	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137426397	G	T	137426397	3	4	198	1	0	0	0	0	1	0	0	0	17403	1087	38	3	713	3	WNT8A	5	137426397	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	123655538	137426397	43488863	12	15705											
F13A1	2162	genome.wustl.edu	37	chr6	6152150	6152150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaactcaactgtcacagtCatgtcagaaccaactacctg	6	12	4	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr6:6152150C>T	ENST00000264870.3	-	14	2206	c.1941G>A	c.(1939-1941)atG>atA	p.M647I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	647					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTGTCACAGTCATGTCAGAAC	0.443																																																	0								ENSG00000124491						81	72	75					6																	6152150		2203	4300	6503	F13A1	SO:0001583	missense	0			-	HGNC	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1941G>A	6.37:g.6152150C>T	ENSP00000264870:p.Met647Ile	Somatic	0	51	0		0.452634715150208	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.M647I	ENST00000264870.3	37	c.1941	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983649	0.53827	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.66815	-0.23	5.37	5.37	0.77165	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	M	0.74647	2.275	0.58432	D	0.999999	P;P	0.49635	0.926;0.891	P;P	0.51415	0.518;0.669	T	0.70662	-0.4810	10	0.45353	T	0.12	.	16.6621	0.85243	0.0:1.0:0.0:0.0	.	584;647	F5H080;P00488	.;F13A_HUMAN	I	647;584	ENSP00000264870:M647I	ENSP00000264870:M647I	M	-	3	0	F13A1	6097149	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.035000	0.41155	2.788000	0.95919	0.650000	0.86243	ATG	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.443	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	protein_coding	OTTHUMT00000039756.3	C	NM_000129	-		6152150	-1	no_errors	ENST00000264870	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6152150	C	T	6152150	3	4	198	1	0	0	0	0	1	0	0	0	5342	826	29	2	265	2	F13A1	6	6152150	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09		6152150	164962917	13	15706											
SPATS1	221409	genome.wustl.edu	37	chr6	44328249	44328249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactcctctgaaatgtcgttGcctgaagtccaaaaggataa	8	10	1	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr6:44328249G>T	ENST00000288390.2	+	3	701	c.354G>T	c.(352-354)ttG>ttT	p.L118F	SPATS1_ENST00000323108.8_Missense_Mutation_p.L118F|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	118										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAATGTCGTTGCCTGAAGTCC	0.483																																																	0								ENSG00000249481						141	128	132					6																	44328249		2203	4300	6503	SPATS1	SO:0001583	missense	0			-	HGNC	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.354G>T	6.37:g.44328249G>T	ENSP00000424400:p.Leu118Phe	Somatic	0	38	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP							NULL	p.L118F	ENST00000288390.2	37	c.354	CCDS4911.1	6	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735626	0.49045	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.51071	0.72;0.72	5.41	1.57	0.23409	.	0.686315	0.12554	N	0.458774	T	0.22044	0.0531	M	0.62723	1.935	0.09310	N	1	B	0.26809	0.16	B	0.25291	0.059	T	0.26052	-1.0114	10	0.54805	T	0.06	.	5.5505	0.17087	0.2541:0.1469:0.599:0.0	.	118	Q496A3	SPAS1_HUMAN	F	118	ENSP00000437552:L118F;ENSP00000424400:L118F	ENSP00000424400:L118F	L	+	3	2	SPATS1	44436227	0.001000	0.12720	0.011000	0.14972	0.006000	0.05464	0.413000	0.21148	0.346000	0.23899	0.591000	0.81541	TTG	-	NULL		0.483	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATS1	protein_coding	OTTHUMT00000040738.2	G	NM_145026	-		44328249	1	no_errors	ENST00000288390	ensembl	human	known	74_37	missense	SNP	0.001	T	T	44328249	G	T	44328249	3	4	198	1	0	0	0	0	1	0	0	0	15025	1310	46	3	364	3	SPATS1	6	44328249	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	38176099	44328249	126786818	14	15707											
RUNX2	860	genome.wustl.edu	37	chr6	45390499	45390499	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggaggcggcggcggcGgctgcggcggcggcggcggc	24	13	0	0			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr6:45390499G>T	ENST00000371438.1	+	2	586	c.228G>T	c.(226-228)gcG>gcT	p.A76A	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.A62A|RUNX2_ENST00000352853.5_Silent_p.A144A|RUNX2_ENST00000541979.1_Silent_p.A144A|RUNX2_ENST00000576263.1_Silent_p.A76A|RUNX2_ENST00000359524.5_Silent_p.A62A|RUNX2_ENST00000371436.6_Silent_p.A76A|RUNX2_ENST00000465038.2_Silent_p.A76A	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	76	Poly-Ala.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						cggcggcggcggctgcggcgg	0.731																																																	0								ENSG00000124813						3	6	5					6																	45390499		1016	2371	3387	RUNX2	SO:0001819	synonymous_variant	0			-	HGNC	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.228G>T	6.37:g.45390499G>T		Somatic	0	36	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	O14614|O14615|O95181	Silent	SNP							pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.A144	ENST00000371438.1	37	c.432	CCDS43467.2	6																																																																																			-	NULL		0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	protein_coding	OTTHUMT00000040755.2	G	NM_004348	-		45390499	1	no_errors	ENST00000352853	ensembl	human	known	74_37	silent	SNP	1.000	T	T	45390499	G	T	45390499	2	4	198	1	0	0	0	0	0	0	0	1	13756	1103	39	3		3	RUNX2	6	45390499	Silent	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	1062250	45390499	125724568	15	15708											
C6orf138	442213	genome.wustl.edu	37	chr6	47847150	47847150	+	Frame_Shift_Del	DEL	A	A	-													gtaagcaccccatgaaggagAaggaggcataaatgagatag							TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr6:47847150delA	ENST00000339488.4	-	3	1463	c.1430delT	c.(1429-1431)ttcfs	p.F477fs		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	477						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CATGAAGGAGAAGGAGGCATA	0.423																																																	0								ENSG00000244694						90	83	86					6																	47847150		2203	4300	6503	PTCHD4	SO:0001589	frameshift_variant	0				HGNC		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1430delT	6.37:g.47847150delA	ENSP00000341914:p.Phe477fs	Somatic	0	72	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B0QZ29|B4DRK3|Q5T884	Frame_Shift_Del	DEL							pfam_Patched,pfscan_SSD	p.F477fs	ENST00000339488.4	37	c.1430	CCDS34473.2	6																																																																																			-	pfam_Patched		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	protein_coding	OTTHUMT00000317987.2	A	NM_001013732			47847150	-1	no_errors	ENST00000339488	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	47847150	A	-	47847150	7	5	198	1	0	1	0	1	0	0	0	0	2334	246	9	0	1114	0	C6orf138	6	47847150	Frame_Shift_Del	DEL	A	TCGA-QQ-A5V2-01A-11D-A32I-09	2456651	47847150	123267917	16	15709											
SEC63	11231	genome.wustl.edu	37	chr6	108243115	108243116	+	Splice_Site	INS	-	-	GGG													ttctgctactgtggctccctINSggggaaaaacaaaaaaaaaa					rs142388422	byFrequency	TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr6:108243115_108243116insGGG	ENST00000369002.4	-	4	519		c.e4-2			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGTGGCTCCCTGGGGAAAAACA	0.317														1685	0.336462	0.2428	0.3703	5008	,	,		14450	0.3333		0.3499	False		,,,				2504	0.4284																0								ENSG00000025796																																			SEC63	SO:0001630	splice_region_variant	0				HGNC	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.340-2->CCC	6.37:g.108243116_108243118dupGGG		Somatic	0	44	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Splice_Site	INS							-	e4-2	ENST00000369002.4	37	c.340-3_340-2	CCDS5061.1	6																																																																																			-	-		0.317	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	protein_coding	OTTHUMT00000041705.4	-	NM_007214		Intron	108243116	-1	no_errors	ENST00000369002	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.980	GGG	GGG	108243116	-	GGG	108243115	8	5	198	1	0	1	1	0	0	0	1	0	14013	1594	55	0	2016	0	SEC63	6	108243115	Splice_Site	INS	-	TCGA-QQ-A5V2-01A-11D-A32I-09	60395965	108243115	62871952	17	15710											
OSTM1	28962	genome.wustl.edu	37	chr6	108395534	108395534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgacagaggcgcacggGccgggcgctgcgcaccagac	17	14	1	3			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr6:108395534G>T	ENST00000193322.3	-	1	407	c.322C>A	c.(322-324)Ccc>Acc	p.P108T		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	108					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		AGGCGCACGGGCCGGGCGCTG	0.667																																					Melanoma(162;1427 1909 3096 17430 21396)												0								ENSG00000081087						18	21	20					6																	108395534		2201	4300	6501	OSTM1	SO:0001583	missense	0			-	HGNC	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"CLCN7 accessory beta subunit"	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.322C>A	6.37:g.108395534G>T	ENSP00000193322:p.Pro108Thr	Somatic	0	15	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP							pfam_Osteopetrosis-assoc_TM_1	p.P108T	ENST00000193322.3	37	c.322	CCDS5062.1	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412913	0.83449	.	.	ENSG00000081087	ENST00000193322	T	0.62498	0.02	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78605	-0.2139	10	0.87932	D	0	-12.2761	11.2483	0.49010	0.086:0.0:0.914:0.0	.	108	Q86WC4	OSTM1_HUMAN	T	108	ENSP00000193322:P108T	ENSP00000193322:P108T	P	-	1	0	OSTM1	108502227	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.183000	0.58317	2.480000	0.83734	0.655000	0.94253	CCC	-	pfam_Osteopetrosis-assoc_TM_1		0.667	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTM1	protein_coding	OTTHUMT00000041709.3	G	NM_014028	-		108395534	-1	no_errors	ENST00000193322	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108395534	G	T	108395534	3	4	198	1	0	0	0	0	1	0	0	0	11300	1203	42	3	706	3	OSTM1	6	108395534	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	152419	108395534	62719533	18	15711											
SLC18A1	6570	genome.wustl.edu	37	chr8	20004811	20004811	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctccgcaggtagtagcaGagtggagcatagacgatgtt	16	7	0	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr8:20004811G>T	ENST00000276373.5	-	15	1688	c.1422C>A	c.(1420-1422)ctC>ctA	p.L474L	SLC18A1_ENST00000265808.7_Silent_p.L442L|SLC18A1_ENST00000519026.1_Silent_p.L442L|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000440926.1_Silent_p.L474L|SLC18A1_ENST00000437980.1_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	474					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)	GGTAGTAGCAGAGTGGAGCAT	0.522																																																	0								ENSG00000036565						85	73	77					8																	20004811		2203	4300	6503	SLC18A1	SO:0001819	synonymous_variant	0			-	HGNC		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.1422C>A	8.37:g.20004811G>T		Somatic	0	60	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	E9PDJ5|Q9BRE4	Silent	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.L474	ENST00000276373.5	37	c.1422	CCDS6013.1	8																																																																																			-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.522	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	protein_coding	OTTHUMT00000214106.1	G		-		20004811	-1	no_errors	ENST00000276373	ensembl	human	known	74_37	silent	SNP	1.000	T	T	20004811	G	T	20004811	2	4	198	1	0	0	0	0	0	0	0	1	14433	929	33	3		3	SLC18A1	8	20004811	Silent	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		20004811	126359211	19	15712											
NUDT18	79873	genome.wustl.edu	37	chr8	21965275	21965275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtgcctggcttgctggcGatactgggcggctagttcaa	16	9	1	0	rs368870753		TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr8:21965275G>A	ENST00000309188.6	-	5	626	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Missense_Mutation_p.R93C	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	170					dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GCTTGCTGGCGATACTGGGCG	0.637																																																	0								ENSG00000173566	G	CYS/ARG	0,4324		0,0,2162	69	79	76		510	-2.1	0.1	8		76	2,8494		0,2,4246	no	missense	NUDT18	NM_024815.3	180	0,2,6408	AA,AG,GG		0.0235,0.0,0.0156	benign	170/324	21965275	2,12818	2162	4248	6410	NUDT18	SO:0001583	missense	0			-	HGNC		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.508C>T	8.37:g.21965275G>A	ENSP00000307852:p.Arg170Cys	Somatic	0	26	0		0.452634715150208	22	12	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q8IZ75|Q9H687	Missense_Mutation	SNP							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	p.R170C	ENST00000309188.6	37	c.508		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.616527|1.616527	0.28801|0.28801	0.0|0.0	2.35E-4|2.35E-4	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	T|.	0.43688|.	0.94|.	5.37|5.37	-2.11|-2.11	0.07187|0.07187	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);|.	0.550376|.	0.19052|.	N|.	0.124002|.	T|T	0.21347|0.21347	0.0514|0.0514	L|L	0.29908|0.29908	0.895|0.895	0.21445|0.21445	N|N	0.999685|0.999685	B|.	0.12013|.	0.005|.	B|.	0.04013|.	0.001|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|5	0.29301|.	T|.	0.29|.	1.2701|1.2701	2.2581|2.2581	0.04060|0.04060	0.3475:0.1257:0.4002:0.1266|0.3475:0.1257:0.4002:0.1266	.|.	170|.	Q6ZVK8|.	NUD18_HUMAN|.	C|L	93;170|205	ENSP00000430539:R93C|.	ENSP00000307852:R170C|.	R|S	-|-	1|2	0|0	NUDT18|NUDT18	22021220|22021220	0.000000|0.000000	0.05858|0.05858	0.092000|0.092000	0.20876|0.20876	0.850000|0.850000	0.48378|0.48378	0.038000|0.038000	0.13862|0.13862	-0.340000|-0.340000	0.08388|0.08388	0.655000|0.655000	0.94253|0.94253	CGC|TCG	-	superfamily_NUDIX_hydrolase_dom-like		0.637	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	NUDT18	protein_coding		G	NM_024815	-		21965275	-1	no_errors	ENST00000309188	ensembl	human	known	74_37	missense	SNP	0.007	A	A	21965275	G	A	21965275	3	1	198	1	0	0	0	0	1	0	0	0	10737	1058	37	1	467	1	NUDT18	8	21965275	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	1960464	21965275	124398747	20	15713											
KIAA1958	158405	genome.wustl.edu	37	chr9	115421591	115421591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaacttttatgtcaccGtcaagaagagcgacggctcg	11	10	2	3	rs141479985		TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr9:115421591G>A	ENST00000337530.6	+	4	1689	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	KIAA1958_ENST00000536272.1_Missense_Mutation_p.V493I	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	465								p.V465I(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TTATGTCACCGTCAAGAAGAG	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000165185	G	ILE/VAL	0,4406		0,0,2203	78	68	71		1393	5.1	1	9	dbSNP_134	71	2,8598	1.2+/-3.3	0,2,4298	no	missense	KIAA1958	NM_133465.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	465/717	115421591	2,13004	2203	4300	6503	KIAA1958	SO:0001583	missense	0			-	HGNC	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1393G>A	9.37:g.115421591G>A	ENSP00000336940:p.Val465Ile	Somatic	0	36	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP							pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.V493I	ENST00000337530.6	37	c.1477	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798139	0.50208	0.0	2.33E-4	ENSG00000165185	ENST00000337530;ENST00000536272	T	0.44083	0.93	5.1	5.1	0.69264	.	.	.	.	.	T	0.24928	0.0605	N	0.14661	0.345	0.23624	N	0.997262	P;P	0.44946	0.846;0.846	B;B	0.34242	0.178;0.125	T	0.11446	-1.0587	9	0.13853	T	0.58	.	18.1317	0.89604	0.0:0.0:1.0:0.0	.	493;465	B7ZKW6;Q8N8K9	.;K1958_HUMAN	I	465;493	ENSP00000336940:V465I	ENSP00000336940:V465I	V	+	1	0	KIAA1958	114461412	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.987000	0.49378	2.361000	0.80049	0.655000	0.94253	GTC	-	NULL		0.537	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	protein_coding	OTTHUMT00000053690.1	G	NM_133465	rs141479985		115421591	1	no_errors	ENST00000536272	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115421591	G	A	115421591	3	1	198	1	0	0	0	0	1	0	0	0	8266	1145	40	1	1403	1	KIAA1958	9	115421591	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		115421591	25791840	21	15714											
CCKBR	887	genome.wustl.edu	37	chr11	6292496	6292496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatagtgccaacacgtggcGcgcctttgatggcccgggtg	14	11	0	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr11:6292496G>A	ENST00000334619.2	+	5	1260	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	CCKBR_ENST00000532715.1_Missense_Mutation_p.R272H|CCKBR_ENST00000525462.1_Missense_Mutation_p.R425H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	356					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AACACGTGGCGCGCCTTTGAT	0.567																																																	0								ENSG00000110148						158	124	136					11																	6292496		2201	4296	6497	CCKBR	SO:0001583	missense	0			-	HGNC	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1067G>A	11.37:g.6292496G>A	ENSP00000335544:p.Arg356His	Somatic	0	29	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R425H	ENST00000334619.2	37	c.1274	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046067	0.75846	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72505	-0.66;-0.66;-0.66	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.087235	0.53938	D	0.000052	D	0.83774	0.5327	M	0.74546	2.27	0.37378	D	0.911939	D;P;P	0.76494	0.999;0.916;0.932	D;P;P	0.72338	0.977;0.562;0.735	D	0.87432	0.2389	10	0.66056	D	0.02	.	17.3923	0.87435	0.0:0.0:1.0:0.0	.	425;290;356	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	H	356;272;425	ENSP00000335544:R356H;ENSP00000432079:R272H;ENSP00000435534:R425H	ENSP00000335544:R356H	R	+	2	0	CCKBR	6249072	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	2.833000	0.48159	2.425000	0.82216	0.557000	0.71058	CGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt		0.567	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	protein_coding	OTTHUMT00000257230.2	G	NM_176875	-		6292496	1	no_errors	ENST00000525462	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6292496	G	A	6292496	3	1	198	1	0	0	0	0	1	0	0	0	2883	1087	38	1	1085	1	CCKBR	11	6292496	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		6292496	128714020	22	15715											
C12orf68	387856	genome.wustl.edu	37	chr12	48577971	48577971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccggcgcccctggaggtGtccaccgtgccggcagtggg	17	14	0	0			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr12:48577971G>A	ENST00000316554.3	+	1	606	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		22						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CCCTGGAGGTGTCCACCGTGC	0.647																																																	0								ENSG00000177875						40	50	47					12																	48577971		2203	4298	6501	C12orf68	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000316554.3:c.66G>A	12.37:g.48577971G>A		Somatic	0	85	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	56	29.11	Q96MK5|Q96N39	Silent	SNP							NULL	p.V22	ENST00000316554.3	37	c.66	CCDS31785.1	12																																																																																			-	NULL		0.647	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	protein_coding	OTTHUMT00000406514.1	G		-		48577971	1	no_errors	ENST00000316554	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48577971	G	A	48577971	2	1	198	1	0	0	0	0	0	0	0	1	1712	1364	48	2		2	C12orf68	12	48577971	Silent	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		48577971	85273924	23	15716											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22867604	22867604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgaagctcatgcatttcGtgaacagcttgcacaactac	9	10	1	2	rs147846294		TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr15:22867604G>T	ENST00000283645.4	+	19	2810	c.2680G>T	c.(2680-2682)Gtg>Ttg	p.V894L	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.V894L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	894					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CATGCATTTCGTGAACAGCTT	0.438																																																	0								ENSG00000153575						218	173	188					15																	22867604		2203	4300	6503	TUBGCP5	SO:0001583	missense	0			-	HGNC	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2680G>T	15.37:g.22867604G>T	ENSP00000283645:p.Val894Leu	Somatic	0	35	0		0.452634715150208	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP							pfam_TUBGCP	p.V894L	ENST00000283645.4	37	c.2680	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.395493	0.96009	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08634	3.07;3.07	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.27169	0.0666	L	0.60845	1.875	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.994	T	0.00104	-1.2058	10	0.46703	T	0.11	-22.5168	19.1338	0.93418	0.0:0.0:1.0:0.0	.	894;894	Q96RT8;E9PB12	GCP5_HUMAN;.	L	894	ENSP00000283645:V894L;ENSP00000409217:V894L	ENSP00000283645:V894L	V	+	1	0	TUBGCP5	20419045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.085000	0.94083	2.752000	0.94435	0.655000	0.94253	GTG	-	pfam_TUBGCP		0.438	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	protein_coding	OTTHUMT00000250998.2	G	NM_052903	-		22867604	1	no_errors	ENST00000283645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22867604	G	T	22867604	3	4	198	1	0	0	0	0	1	0	0	0	16776	1145	40	3	2754	3	TUBGCP5	15	22867604	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		22867604	79663788	24	15717											
SECISBP2L	9728	genome.wustl.edu	37	chr15	49301541	49301541	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagttctgacttgctggagaGagtgaagtatcactgggcat	14	6	2	3			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr15:49301541G>T	ENST00000559471.1	-	14	2162	c.1899C>A	c.(1897-1899)ctC>ctA	p.L633L	SECISBP2L_ENST00000261847.3_Silent_p.L588L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	633							poly(A) RNA binding (GO:0044822)	p.L588L(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTGCTGGAGAGAGTGAAGTAT	0.428																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000138593						166	150	156					15																	49301541		2197	4295	6492	SECISBP2L	SO:0001819	synonymous_variant	0			-	HGNC	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.1899C>A	15.37:g.49301541G>T		Somatic	0	40	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q8N767	Silent	SNP							pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.L633	ENST00000559471.1	37	c.1899	CCDS53942.1	15																																																																																			-	NULL		0.428	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	protein_coding	OTTHUMT00000417277.1	G	NM_014701	-		49301541	-1	no_errors	ENST00000559471	ensembl	human	known	74_37	silent	SNP	0.958	T	T	49301541	G	T	49301541	2	4	198	1	0	0	0	0	0	0	0	1	14015	929	33	3		3	SECISBP2L	15	49301541	Silent	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	26433937	49301541	53229851	25	15718											
TCF12	6938	genome.wustl.edu	37	chr15	57384044	57384044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacagtcgattaggagccCatgaaggcttgtccccaaca	10	11	0	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr15:57384044C>A	ENST00000267811.5	+	5	584	c.280C>A	c.(280-282)Cat>Aat	p.H94N	TCF12_ENST00000557843.1_Missense_Mutation_p.H94N|TCF12_ENST00000333725.5_Missense_Mutation_p.H94N|TCF12_ENST00000438423.2_Missense_Mutation_p.H94N|TCF12_ENST00000452095.2_Missense_Mutation_p.H90N	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	94					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATTAGGAGCCCATGAAGGCTT	0.423			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0								ENSG00000140262						120	116	118					15																	57384044		2192	4292	6484	TCF12	SO:0001583	missense	0			-	HGNC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.280C>A	15.37:g.57384044C>A	ENSP00000267811:p.His94Asn	Somatic	0	66	0		0.452634715150208	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.H94N	ENST00000267811.5	37	c.280	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122383	0.56613	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.74	5.74	0.90152	.	0.053567	0.64402	D	0.000001	T	0.73628	0.3611	L	0.60455	1.87	0.47949	D	0.999552	P;B;B;B	0.50528	0.936;0.095;0.012;0.009	P;B;B;B	0.61201	0.885;0.061;0.006;0.006	T	0.71699	-0.4514	10	0.41790	T	0.15	-10.4148	15.5066	0.75745	0.1389:0.8611:0.0:0.0	.	90;146;94;94	E9PGY0;F5H6Z6;Q99081;Q99081-3	.;.;HTF4_HUMAN;.	N	146;94;94;90;94	ENSP00000267811:H94N;ENSP00000388940:H94N;ENSP00000396881:H90N;ENSP00000331057:H94N	ENSP00000267811:H94N	H	+	1	0	TCF12	55171336	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.137000	0.58010	2.714000	0.92807	0.585000	0.79938	CAT	-	NULL		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	protein_coding	OTTHUMT00000255069.3	C	NM_003205	-		57384044	1	no_errors	ENST00000438423	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57384044	C	A	57384044	3	1	198	1	0	0	0	0	1	0	0	0	15694	594	21	3	294	3	TCF12	15	57384044	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09	8082503	57384044	45147348	26	15719											
PIAS1	8554	genome.wustl.edu	37	chr15	68446007	68446007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttacgagcaaagggaataaGgaatccggatcattctagag	12	6	2	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr15:68446007G>T	ENST00000249636.6	+	7	1056	c.908G>T	c.(907-909)aGg>aTg	p.R303M	PIAS1_ENST00000545237.1_Missense_Mutation_p.R305M	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	303					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAGGGAATAAGGAATCCGGAT	0.338																																																	0								ENSG00000033800						97	91	93					15																	68446007		1831	4080	5911	PIAS1	SO:0001583	missense	0			-	HGNC	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.908G>T	15.37:g.68446007G>T	ENSP00000249636:p.Arg303Met	Somatic	0	92	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP							pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R303M	ENST00000249636.6	37	c.908	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.089321	0.94100	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.37058	1.22;1.22	5.6	5.6	0.85130	.	0.041486	0.85682	D	0.000000	T	0.61999	0.2392	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.72982	0.979;0.829	T	0.64114	-0.6483	10	0.87932	D	0	-10.4155	19.6107	0.95606	0.0:0.0:1.0:0.0	.	303;303	C5J4B4;O75925	.;PIAS1_HUMAN	M	303;305	ENSP00000249636:R303M;ENSP00000438574:R305M	ENSP00000249636:R303M	R	+	2	0	PIAS1	66233061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.823000	0.99369	2.648000	0.89879	0.655000	0.94253	AGG	-	NULL		0.338	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	protein_coding	OTTHUMT00000419642.2	G		-		68446007	1	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68446007	G	T	68446007	3	4	198	1	0	0	0	0	1	0	0	0	11877	1000	35	3	934	3	PIAS1	15	68446007	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	11061963	68446007	34085385	27	15720											
ALPK3	57538	genome.wustl.edu	37	chr15	85383263	85383263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaccctggcggcttggcaGgagggagagactgagactgc	19	9	0	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr15:85383263G>T	ENST00000258888.5	+	5	1526	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	453					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)			CGGCTTGGCAGGAGGGAGAGA	0.647																																																	0								ENSG00000136383						37	34	35					15																	85383263		2203	4299	6502	ALPK3	SO:0001583	missense	0			-	HGNC	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.1359G>T	15.37:g.85383263G>T	ENSP00000258888:p.Gln453His	Somatic	0	29	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q9P2L6	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.Q453H	ENST00000258888.5	37	c.1359	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216458	0.39201	.	.	ENSG00000136383	ENST00000258888	T	0.61274	0.12	4.96	0.557	0.17260	.	0.269957	0.27917	N	0.017339	T	0.35711	0.0941	L	0.32530	0.975	0.09310	N	1	B	0.22146	0.065	B	0.22753	0.041	T	0.07520	-1.0768	10	0.31617	T	0.26	-7.1682	0.8077	0.01087	0.1922:0.1461:0.3279:0.3338	.	453	Q96L96	ALPK3_HUMAN	H	453	ENSP00000258888:Q453H	ENSP00000258888:Q453H	Q	+	3	2	ALPK3	83184267	0.995000	0.38212	0.979000	0.43373	0.537000	0.34900	0.485000	0.22324	0.484000	0.27630	0.467000	0.42956	CAG	-	NULL		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	protein_coding	OTTHUMT00000308997.1	G	NM_020778	-		85383263	1	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	SNP	0.149	T	T	85383263	G	T	85383263	3	4	198	1	0	0	0	0	1	0	0	0	546	991	35	3	1377	3	ALPK3	15	85383263	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	16937256	85383263	17148129	28	15721											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29891249	29891249	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacacattcgatggcattGgggggcccagggggctccag	15	12	0	0			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr16:29891249G>T	ENST00000308713.5	-	9	2036	c.1509C>A	c.(1507-1509)ccC>ccA	p.P503P	SEZ6L2_ENST00000537485.1_Silent_p.P459P|SEZ6L2_ENST00000346932.5_Silent_p.P389P|SEZ6L2_ENST00000350527.3_Silent_p.P433P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	503	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGATGGCATTGGGGGGCCCAG	0.607																																																	0								ENSG00000174938						125	125	125					16																	29891249		2197	4300	6497	SEZ6L2	SO:0001819	synonymous_variant	0			-	HGNC	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1509C>A	16.37:g.29891249G>T		Somatic	0	28	0		0.452634715150208	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP							pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P503	ENST00000308713.5	37	c.1509	CCDS10659.1	16																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.607	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	protein_coding	OTTHUMT00000255154.2	G	NM_012410	-		29891249	-1	no_errors	ENST00000308713	ensembl	human	known	74_37	silent	SNP	0.998	T	T	29891249	G	T	29891249	2	4	198	1	0	0	0	0	0	0	0	1	14152	1335	47	3		3	SEZ6L2	16	29891249	Silent	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		29891249	60463504	29	15722											
ITGAE	3682	genome.wustl.edu	37	chr17	3658410	3658410	+	Splice_Site	DEL	C	C	-													atcaggtggccccgccctcaCccaggtagctgtactgcgca					rs373382355|rs200636903		TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr17:3658410delC	ENST00000263087.4	-	12	1483		c.e12+1			NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCGCCCTCACCCAGGTAGCT	0.741																																					NSCLC(182;635 2928 8995 38788)												0								ENSG00000083457			151,3425		5,141,1642	3	4	4			4.7	1	17	dbSNP_130	4	354,6796		17,320,3238	no	splice-5	ITGAE	NM_002208.4		22,461,4880	A1A1,A1R,RR		4.951,4.2226,4.7082			3658410	505,10221	1886	3777	5663	ITGAE	SO:0001630	splice_region_variant	0				HGNC	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1384+1G>-	17.37:g.3658410delC		Somatic	0	18	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	Q17RS6|Q9NZU9	Splice_Site	DEL							-	e12+1	ENST00000263087.4	37	c.1384+1	CCDS32531.1	17																																																																																			-	-		0.741	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	protein_coding	OTTHUMT00000438169.1	C	NM_002208		Intron	3658410	-1	no_errors	ENST00000263087	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	3658410	C	-	3658410	8	5	198	1	0	1	0	1	0	0	1	0	7887	521	18	0	2234	0	ITGAE	17	3658410	Splice_Site	DEL	C	TCGA-QQ-A5V2-01A-11D-A32I-09		3658410	77536800	30	15723											
EFCAB3	146779	genome.wustl.edu	37	chr17	60464715	60464715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcagggatagagacttacCaggatctcttcaatgccaat	8	11	3	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr17:60464715C>A	ENST00000305286.3	+	3	167	c.89C>A	c.(88-90)cCa>cAa	p.P30Q	EFCAB3_ENST00000450662.2_Missense_Mutation_p.P82Q	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	30							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGAGACTTACCAGGATCTCTT	0.368																																																	0								ENSG00000172421						96	88	91					17																	60464715		2203	4300	6503	EFCAB3	SO:0001583	missense	0			-	HGNC	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.89C>A	17.37:g.60464715C>A	ENSP00000302649:p.Pro30Gln	Somatic	0	53	0		0.452634715150208	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	34.15	J3KQM8	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.P82Q	ENST00000305286.3	37	c.245	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	C	8.495	0.862865	0.17178	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.57752	0.43;0.42;0.38;0.38	4.51	-0.225	0.13111	.	0.694331	0.13174	N	0.408044	T	0.34890	0.0913	L	0.46157	1.445	0.09310	N	1	B;B	0.21905	0.062;0.028	B;B	0.14023	0.01;0.01	T	0.15780	-1.0425	10	0.23891	T	0.37	.	1.0858	0.01652	0.1832:0.4321:0.1785:0.2063	.	30;30	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	Q	82;30;30;30	ENSP00000403932:P82Q;ENSP00000302649:P30Q;ENSP00000429124:P30Q;ENSP00000428626:P30Q	ENSP00000302649:P30Q	P	+	2	0	EFCAB3	57818447	0.000000	0.05858	0.004000	0.12327	0.148000	0.21650	0.279000	0.18771	0.213000	0.20722	0.557000	0.71058	CCA	-	NULL		0.368	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	protein_coding	OTTHUMT00000379114.1	C	NM_173503	-		60464715	1	no_errors	ENST00000450662	ensembl	human	known	74_37	missense	SNP	0.003	A	A	60464715	C	A	60464715	3	1	198	1	0	0	0	0	1	0	0	0	4937	594	21	3	263	3	EFCAB3	17	60464715	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09	56806305	60464715	20730495	31	15724											
H3F3B	3021	genome.wustl.edu	37	chr17	73775137	73775137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacctacctgtagcgaTgaggcttcttcaccccgccg	10	17	2	1			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr17:73775137T>C	ENST00000254810.4	-	2	251	c.119A>G	c.(118-120)cAt>cGt	p.H40R	H3F3B_ENST00000592643.1_Missense_Mutation_p.H40R|H3F3B_ENST00000589599.1_Missense_Mutation_p.H40R|H3F3B_ENST00000587560.1_Missense_Mutation_p.H40R|H3F3B_ENST00000591890.1_Missense_Mutation_p.H40R|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.H40R	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	40					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGTAGCGATGAGGCTTCTT	0.677											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132475						27	29	29					17																	73775137		2201	4300	6501	H3F3B	SO:0001583	missense	0			-	HGNC	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"Histones / Replication-independent"	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.119A>G	17.37:g.73775137T>C	ENSP00000254810:p.His40Arg	Somatic	0	77	0	1147	0.452634715150208	331	17.78	72	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	83	27.83	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.H40R	ENST00000254810.4	37	c.119	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	T	12.85	2.061375	0.36373	.	.	ENSG00000132475	ENST00000254810	T	0.38077	1.16	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000013	T	0.45597	0.1350	L	0.43757	1.38	0.50632	D	0.999884	.	.	.	.	.	.	T	0.44742	-0.9308	8	0.72032	D	0.01	.	15.0159	0.71584	0.0:0.0:0.0:1.0	.	.	.	.	R	40	ENSP00000254810:H40R	ENSP00000254810:H40R	H	-	2	0	H3F3B	71286732	1.000000	0.71417	0.916000	0.36221	0.986000	0.74619	7.467000	0.80930	2.132000	0.65825	0.533000	0.62120	CAT	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.677	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	protein_coding	OTTHUMT00000448499.1	T	NM_005324	-		73775137	-1	no_errors	ENST00000254810	ensembl	human	known	74_37	missense	SNP	1.000	C	C	73775137	T	C	73775137	3	2	198	1	0	0	0	0	1	0	0	0	6936	1464	51	5	303	5	H3F3B	17	73775137	Missense_Mutation	SNP	T	TCGA-QQ-A5V2-01A-11D-A32I-09	13310422	73775137	7420073	32	15725			1	92		2	2	16	N	T_C	1.792807e-05
H3F3B	3021	genome.wustl.edu	37	chr17	73775152	73775152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgatgaggcttcttcaccCcgccggtagagggagcgctt	14	12	2	2			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr17:73775152C>A	ENST00000254810.4	-	2	236	c.104G>T	c.(103-105)gGg>gTg	p.G35V	H3F3B_ENST00000592643.1_Missense_Mutation_p.G35V|H3F3B_ENST00000589599.1_Missense_Mutation_p.G35V|H3F3B_ENST00000587560.1_Missense_Mutation_p.G35V|H3F3B_ENST00000591890.1_Missense_Mutation_p.G35V|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.G35V	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	35					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCTTCACCCCGCCGGTAGA	0.667											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132475						26	28	27					17																	73775152		2202	4300	6502	H3F3B	SO:0001583	missense	0			-	HGNC	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"Histones / Replication-independent"	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.104G>T	17.37:g.73775152C>A	ENSP00000254810:p.Gly35Val	Somatic	0	89	0	1147	0.452634715150208	304	22.45	88	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	87	29.27	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G35V	ENST00000254810.4	37	c.104	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458810	0.63401	.	.	ENSG00000132475	ENST00000254810	T	0.46819	0.86	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000017	T	0.76104	0.3941	M	0.91717	3.235	0.80722	D	1	.	.	.	.	.	.	T	0.82055	-0.0647	8	0.87932	D	0	.	18.6647	0.91485	0.0:1.0:0.0:0.0	.	.	.	.	V	35	ENSP00000254810:G35V	ENSP00000254810:G35V	G	-	2	0	H3F3B	71286747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	2.639000	0.89480	0.655000	0.94253	GGG	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.667	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	protein_coding	OTTHUMT00000448499.1	C	NM_005324	-		73775152	-1	no_errors	ENST00000254810	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73775152	C	A	73775152	3	1	198	1	0	0	0	0	1	0	0	0	6936	623	22	3	318	3	H3F3B	17	73775152	Missense_Mutation	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09	15	73775152	7420058	33	15726			1	92		2	2	16	N	T_C	1.792807e-05
FASN	2194	genome.wustl.edu	37	chr17	80049467	80049467	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggctggtccaccacctGcagccgcccatccaacagcg	11	18	0	0			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr17:80049467G>A	ENST00000306749.2	-	9	1341	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	375	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCCACCACCTGCAGCCGCCCA	0.667																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						18	16	17					17																	80049467		2162	4275	6437	FASN	SO:0001587	stop_gained	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1123C>T	17.37:g.80049467G>A	ENSP00000304592:p.Gln375*	Somatic	0	22	0		0.452634715150208	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Nonsense_Mutation	SNP							pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.Q375*	ENST00000306749.2	37	c.1123	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.215128	0.95104	.	.	ENSG00000169710	ENST00000306749	.	.	.	5.11	5.11	0.69529	.	0.469540	0.22318	N	0.061641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1603	11.5644	0.50796	0.0:0.1334:0.7284:0.1382	.	.	.	.	X	375	.	ENSP00000304592:Q375X	Q	-	1	0	FASN	77642756	0.217000	0.23597	0.996000	0.52242	0.076000	0.17211	2.892000	0.48625	2.386000	0.81285	0.491000	0.48974	CAG	-	superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom		0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	G	NM_004104	-		80049467	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	nonsense	SNP	0.004	A	A	80049467	G	A	80049467	4	1	198	1	0	0	0	0	0	1	0	0	5685	1328	46	2	6552	2	FASN	17	80049467	Nonsense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09	6274315	80049467	1145743	34	15727											
C3	718	genome.wustl.edu	37	chr19	6712613	6712613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatggggatcccgctgcgcTctgcctgcaccatgtcactg	12	15	2	0			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chr19:6712613T>C	ENST00000245907.6	-	10	1117	c.1025A>G	c.(1024-1026)gAg>gGg	p.E342G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	342					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)	CCCGCTGCGCTCTGCCTGCAC	0.572																																																	0								ENSG00000125730						207	179	188					19																	6712613		2203	4300	6503	C3	SO:0001583	missense	0			-	HGNC	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.1025A>G	19.37:g.6712613T>C	ENSP00000245907:p.Glu342Gly	Somatic	0	38	0		0.452634715150208	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	A7E236	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.E342G	ENST00000245907.6	37	c.1025	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127495	0.56721	.	.	ENSG00000125730	ENST00000245907	T	0.35789	1.29	5.2	5.2	0.72013	.	0.326189	0.35708	N	0.003039	T	0.61299	0.2336	M	0.92923	3.36	0.39438	D	0.967193	D	0.54601	0.967	P	0.56127	0.792	T	0.69331	-0.5173	10	0.28530	T	0.3	.	14.0386	0.64660	0.0:0.0:0.0:1.0	.	342	P01024	CO3_HUMAN	G	342	ENSP00000245907:E342G	ENSP00000245907:E342G	E	-	2	0	C3	6663613	1.000000	0.71417	0.107000	0.21349	0.601000	0.36947	5.421000	0.66447	1.965000	0.57142	0.459000	0.35465	GAG	-	NULL		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	T	NM_000064	-		6712613	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	SNP	0.880	C	C	6712613	T	C	6712613	3	2	198	1	0	0	0	0	1	0	0	0	2206	1551	54	5	4094	5	C3	19	6712613	Missense_Mutation	SNP	T	TCGA-QQ-A5V2-01A-11D-A32I-09		6712613	52416370	35	15728											
PPP1R3F	89801	genome.wustl.edu	37	chrX	49142965	49142965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctccagaaatcctctccGgggcccgttctgtggtagcc	11	16	2	1	rs201784162		TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chrX:49142965G>A	ENST00000055335.6	+	4	1829	c.1813G>A	c.(1813-1815)Ggg>Agg	p.G605R	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.G259R|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.G276R|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.G259R|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.G259R	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	605					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AATCCTCTCCGGGGCCCGTTC	0.612													G|||	1	0.000264901	0	0	3775	,	,		11766	0.001		0	False		,,,				2504	0																0								ENSG00000049769						29	23	25					X																	49142965		2201	4300	6501	PPP1R3F	SO:0001583	missense	0			GMAF=0	HGNC		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1813G>A	X.37:g.49142965G>A	ENSP00000055335:p.Gly605Arg	Somatic	0	47	0		0.452634715150208	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	47	23.81	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP							pfam_CBM_21,pfscan_CBM_21	p.G605R	ENST00000055335.6	37	c.1813	CCDS35254.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.37	2.516490	0.44763	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.72167	-0.18;-0.17;-0.63;-0.18;-0.18	5.55	4.63	0.57726	.	0.369124	0.23446	N	0.048086	T	0.73908	0.3647	L	0.29908	0.895	0.30959	N	0.723825	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.74306	-0.3708	10	0.87932	D	0	-10.6945	10.388	0.44152	0.0:0.1928:0.8071:0.0	.	276;290;605	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	R	259;276;605;259;259	ENSP00000420687:G259R;ENSP00000415548:G276R;ENSP00000055335:G605R;ENSP00000417535:G259R;ENSP00000365359:G259R	ENSP00000055335:G605R	G	+	1	0	PPP1R3F	49029909	0.999000	0.42202	0.991000	0.47740	0.486000	0.33341	4.664000	0.61540	2.318000	0.78349	0.509000	0.49947	GGG	-	NULL		0.612	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	protein_coding	OTTHUMT00000060819.2	G	NM_033215	rs201784162		49142965	1	no_errors	ENST00000055335	ensembl	human	known	74_37	missense	SNP	0.878	A	A	49142965	G	A	49142965	3	1	198	1	0	0	0	0	1	0	0	0	12380	1116	39	1	1827	1	PPP1R3F	23	49142965	Missense_Mutation	SNP	G	TCGA-QQ-A5V2-01A-11D-A32I-09		49142965	106127595	36	15729											
PLXNA3	55558	genome.wustl.edu	37	chrX	153696280	153696280	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaggacgcggaccgtacCctcaagcgtctgcagctgca	11	15	3	0			TCGA-QQ-A5V2-01A-11D-A32I-09	TCGA-QQ-A5V2-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81047441-778a-4acd-b691-d038469dbb2d	4a347717-46ed-4584-868e-1f38b3d08a09	g.chrX:153696280C>A	ENST00000369682.3	+	21	3931	c.3756C>A	c.(3754-3756)acC>acA	p.T1252T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1252					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)			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)					CGGACCGTACCCTCAAGCGTC	0.672																																																	0								ENSG00000130827						66	62	63					X																	153696280		2203	4300	6503	PLXNA3	SO:0001819	synonymous_variant	0			-	HGNC	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.3756C>A	X.37:g.153696280C>A		Somatic	0	26	0		0.452634715150208	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q5HY36	Silent	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.T1252	ENST00000369682.3	37	c.3756	CCDS14752.1	X																																																																																			-	NULL		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	protein_coding	OTTHUMT00000081634.1	C	NM_017514	-		153696280	1	no_errors	ENST00000369682	ensembl	human	known	74_37	silent	SNP	0.579	A	A	153696280	C	A	153696280	2	1	198	1	0	0	0	0	0	0	0	1	12123	610	22	3		3	PLXNA3	23	153696280	Silent	SNP	C	TCGA-QQ-A5V2-01A-11D-A32I-09	104553315	153696280	1574280	37	15730											
CSMD2	114784	genome.wustl.edu	37	chr1	34312507	34312507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtattgggcactgaatccGcgctgccggtggttgccatc	14	11	0	1	rs143306375		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr1:34312507G>A	ENST00000373381.4	-	6	1187	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R297R(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000121904	G		0,4406		0,0,2203	70	64	66		891	-9.6	0.3	1	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		297/3488	34312507	1,13005	2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1011C>T	1.37:g.34312507G>A		Somatic	0	36	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R337	ENST00000373381.4	37	c.1011		1																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		G	NM_052896	rs143306375		34312507	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	0.212	A	A	34312507	G	A	34312507	2	1	199	1	0	0	0	0	0	0	0	1	3947	1074	38	1		1	CSMD2	1	34312507	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		34312507	214938114	1	15731											
MACF1	23499	genome.wustl.edu	37	chr1	39823522	39823522	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacttagtaaaggacaAgttgaaggatgcaacagaaa	11	4	0	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr1:39823522A>T	ENST00000372915.3	+	44	12002	c.11915A>T	c.(11914-11916)aAg>aTg	p.K3972M	MACF1_ENST00000564288.1_Missense_Mutation_p.K3967M|MACF1_ENST00000361689.2_Missense_Mutation_p.K1905M|MACF1_ENST00000567887.1_Missense_Mutation_p.K4004M|MACF1_ENST00000539005.1_Missense_Mutation_p.K1905M|MACF1_ENST00000289893.4_Missense_Mutation_p.K2407M|MACF1_ENST00000317713.7_Missense_Mutation_p.K1905M|MACF1_ENST00000545844.1_Missense_Mutation_p.K1905M|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3972					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTAAAGGACAAGTTGAAGGAT	0.423																																																	0								ENSG00000127603						71	66	68					1																	39823522		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11915A>T	1.37:g.39823522A>T	ENSP00000362006:p.Lys3972Met	Somatic	0	56	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K1905M	ENST00000372915.3	37	c.5714		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.41|18.41	3.618053|3.618053	0.66787|0.66787	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19;1.19;1.19|.	6.07|6.07	3.8|3.8	0.43715|0.43715	.|.	0.085397|.	0.50627|.	D|.	0.000117|.	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;0.998|.	D;D;D;D|.	0.76071|.	0.984;0.987;0.967;0.959|.	T|T	0.63976|0.63976	-0.6515|-0.6515	10|5	0.87932|.	D|.	0|.	.|.	9.8706|9.8706	0.41170|0.41170	0.8641:0.0:0.1359:0.0|0.8641:0.0:0.1359:0.0	.|.	3972;1905;1905;1870|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	M|H	1905;3972;1905;1905;1905;2407|1038	ENSP00000439537:K1905M;ENSP00000362006:K3972M;ENSP00000354573:K1905M;ENSP00000313438:K1905M;ENSP00000444364:K1905M;ENSP00000289893:K2407M|.	ENSP00000289893:K2407M|.	K|Q	+|+	2|3	0|2	MACF1|MACF1	39596109|39596109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.359000|3.359000	0.52292|0.52292	1.128000|1.128000	0.42052|0.42052	0.533000|0.533000	0.62120|0.62120	AAG|CAA	-	smart_Spectrin/alpha-actinin		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	A	NM_033044	-		39823522	1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	0.999	T	T	39823522	A	T	39823522	3	4	199	1	0	0	0	0	1	0	0	0	9146	72	3	5	12023	5	MACF1	1	39823522	Missense_Mutation	SNP	A	TCGA-QQ-A5V9-01A-11D-A32I-09	5511015	39823522	209427099	2	15732											
ACOT11	26027	genome.wustl.edu	37	chr1	55050380	55050380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagtcagccttacgtgCggggaacgacagtgccatgg	15	11	1	0	rs150203501		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr1:55050380C>T	ENST00000371316.3	+	2	168	c.86C>T	c.(85-87)gCg>gTg	p.A29V	ACOT11_ENST00000343744.2_Missense_Mutation_p.A29V|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	29	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTTACGTGCGGGGAACGAC	0.637																																					Ovarian(148;1440 1861 22015 32453 51933)												0								ENSG00000162390	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	89	76	80		86,86	2.3	0	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ACOT11	NM_015547.3,NM_147161.3	64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	29/608,29/595	55050380	2,13004	2203	4300	6503	ACOT11	SO:0001583	missense	0			-	HGNC	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.86C>T	1.37:g.55050380C>T	ENSP00000360366:p.Ala29Val	Somatic	0	65	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	15	68.75	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP							pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.A29V	ENST00000371316.3	37	c.86	CCDS592.1	1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224441	0.39300	2.27E-4	1.16E-4	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.10288	2.95;2.89	5.27	2.35	0.29111	.	0.676414	0.15172	N	0.276591	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B;B	0.22480	0.07;0.002	B;B	0.10450	0.003;0.005	T	0.34477	-0.9827	10	0.49607	T	0.09	-21.2261	6.4123	0.21698	0.0:0.5594:0.2857:0.1548	.	29;29	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	V	29	ENSP00000340260:A29V;ENSP00000360366:A29V	ENSP00000340260:A29V	A	+	2	0	ACOT11	54822968	0.068000	0.21057	0.001000	0.08648	0.004000	0.04260	0.430000	0.21428	0.720000	0.32209	-0.165000	0.13383	GCG	-	NULL		0.637	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	protein_coding	OTTHUMT00000027356.1	C	NM_015547	rs150203501		55050380	1	no_errors	ENST00000371316	ensembl	human	known	74_37	missense	SNP	0.014	T	T	55050380	C	T	55050380	3	4	199	1	0	0	0	0	1	0	0	0	149	768	27	1	92	1	ACOT11	1	55050380	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	15226858	55050380	194200241	3	15733											
TAF1B	9014	genome.wustl.edu	37	chr2	10059732	10059732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctccggttccagaaatgGtggtgaatctacagaaacaa	9	8	2	3	rs150986511	byFrequency	TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:10059732G>T	ENST00000263663.5	+	14	1536	c.1348G>T	c.(1348-1350)Gtg>Ttg	p.V450L	TAF1B_ENST00000396242.3_Missense_Mutation_p.V195L	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	450					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					tccagaaATGGTGGTGAATCT	0.368																																																	0								ENSG00000115750						63	61	61					2																	10059732		2203	4300	6503	TAF1B	SO:0001583	missense	0			-	HGNC	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1348G>T	2.37:g.10059732G>T	ENSP00000263663:p.Val450Leu	Somatic	0	58	0		0.59637776751237	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP							pfam_TF_Rrn7	p.V450L	ENST00000263663.5	37	c.1348	CCDS33143.1	2	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798182	0.50208	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.52295	0.67;0.67	5.32	4.42	0.53409	.	0.337981	0.32488	N	0.006037	T	0.42899	0.1223	M	0.62723	1.935	0.36738	D	0.882099	P;P	0.46512	0.807;0.879	B;B	0.41571	0.197;0.36	T	0.52064	-0.8625	9	.	.	.	-15.5423	8.4968	0.33132	0.0785:0.0:0.7676:0.1539	.	450;450	Q53T94;Q53T94-2	TAF1B_HUMAN;.	L	450;195	ENSP00000263663:V450L;ENSP00000379542:V195L	.	V	+	1	0	TAF1B	9977183	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.326000	0.33735	2.646000	0.89796	0.655000	0.94253	GTG	-	NULL		0.368	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	protein_coding	OTTHUMT00000323426.2	G	NM_005680	-		10059732	1	no_errors	ENST00000263663	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10059732	G	T	10059732	3	4	199	1	0	0	0	0	1	0	0	0	15527	1261	44	3	1402	3	TAF1B	2	10059732	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		10059732	233139641	4	15734											
AGBL5	60509	genome.wustl.edu	37	chr2	27278614	27278614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgccgtcctgcacccgGccatctatggggccaaagct	11	15	1	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:27278614G>A	ENST00000360131.4	+	7	1132	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.A325T	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	325					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCACCCGGCCATCTATGG	0.557																																																	0								ENSG00000084693						103	92	96					2																	27278614		2203	4300	6503	AGBL5	SO:0001583	missense	0			-	HGNC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.973G>A	2.37:g.27278614G>A	ENSP00000353249:p.Ala325Thr	Somatic	0	20	0		0.59637776751237	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP							pfam_Peptidase_M14	p.A325T	ENST00000360131.4	37	c.973	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122436	0.56613	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.12255	2.71;2.7	5.88	5.88	0.94601	.	0.094664	0.85682	D	0.000000	T	0.10937	0.0267	N	0.03967	-0.31	0.43014	D	0.994559	D;P;P	0.60160	0.987;0.939;0.939	P;P;P	0.58660	0.843;0.625;0.625	T	0.16600	-1.0397	10	0.02654	T	1	-27.3619	13.9076	0.63845	0.0:0.0:0.8476:0.1524	.	325;325;325	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	T	325	ENSP00000323681:A325T;ENSP00000353249:A325T	ENSP00000323681:A325T	A	+	1	0	AGBL5	27132118	1.000000	0.71417	0.970000	0.41538	0.717000	0.41224	6.575000	0.74018	2.791000	0.96007	0.491000	0.48974	GCC	-	NULL		0.557	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	protein_coding	OTTHUMT00000309033.1	G	NM_021831	-		27278614	1	no_errors	ENST00000360131	ensembl	human	known	74_37	missense	SNP	0.994	A	A	27278614	G	A	27278614	3	1	199	1	0	0	0	0	1	0	0	0	378	1203	42	2	995	2	AGBL5	2	27278614	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	17218882	27278614	215920759	5	15735											
LONRF2	164832	genome.wustl.edu	37	chr2	100910724	100910724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagataaacacatgccaaacCgcttggtgccagtttccatg	8	12	0	1	rs373744289		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:100910724C>A	ENST00000393437.3	-	9	2363	c.1724G>T	c.(1723-1725)cGg>cTg	p.R575L	LONRF2_ENST00000409647.1_Missense_Mutation_p.R332L	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	575	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CATGCCAAACCGCTTGGTGCC	0.502																																																	0								ENSG00000170500						113	97	103					2																	100910724		2203	4300	6503	LONRF2	SO:0001583	missense	0			-	HGNC	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1724G>T	2.37:g.100910724C>A	ENSP00000377086:p.Arg575Leu	Somatic	0	76	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B9A006|Q6ZSR4	Missense_Mutation	SNP							pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R575L	ENST00000393437.3	37	c.1724	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884373	0.33255	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.40756	1.02;1.02	4.08	2.26	0.28386	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.127889	0.52532	D	0.000080	T	0.37404	0.1002	L	0.28054	0.825	0.35542	D	0.803163	P	0.51537	0.946	P	0.53649	0.731	T	0.45963	-0.9225	10	0.62326	D	0.03	-5.2424	6.4261	0.21770	0.0:0.5293:0.0:0.4707	.	575	Q1L5Z9	LONF2_HUMAN	L	575;332	ENSP00000377086:R575L;ENSP00000386823:R332L	ENSP00000377086:R575L	R	-	2	0	LONRF2	100277156	1.000000	0.71417	0.011000	0.14972	0.007000	0.05969	4.186000	0.58337	0.305000	0.22832	-0.136000	0.14681	CGG	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.502	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	protein_coding	OTTHUMT00000253161.2	C	NM_198461	-		100910724	-1	no_errors	ENST00000393437	ensembl	human	known	74_37	missense	SNP	0.999	A	A	100910724	C	A	100910724	3	1	199	1	0	0	0	0	1	0	0	0	8897	652	23	3	556	3	LONRF2	2	100910724	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	73632110	100910724	142288649	6	15736											
PTPN18	26469	genome.wustl.edu	37	chr2	131128341	131128341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagcagcggcctgcgGccgtgcagacagaggtgaac	17	10	0	4			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:131128341G>A	ENST00000175756.5	+	10	921	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	PTPN18_ENST00000347849.3_Missense_Mutation_p.A167T	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	274	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GCGGCCTGCGGCCGTGCAGAC	0.572																																																	0								ENSG00000072135						85	84	85					2																	131128341		2203	4300	6503	PTPN18	SO:0001583	missense	0			-	HGNC	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.820G>A	2.37:g.131128341G>A	ENSP00000175756:p.Ala274Thr	Somatic	0	42	0		0.59637776751237	13	13.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B4E1E6|Q53P42	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A274T	ENST00000175756.5	37	c.820	CCDS2161.1	2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150951	0.57151	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	D;D	0.84370	-1.84;-1.84	4.88	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	1.128640	0.06870	N	0.800599	D	0.87613	0.6221	L	0.42487	1.325	0.09310	N	1	D;P;P	0.63880	0.993;0.934;0.934	P;P;P	0.58620	0.842;0.624;0.646	T	0.74051	-0.3789	10	0.59425	D	0.04	.	9.5447	0.39273	0.1777:0.0:0.8223:0.0	.	253;274;167	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	T	274;167;253	ENSP00000175756:A274T;ENSP00000310092:A167T	ENSP00000175756:A274T	A	+	1	0	PTPN18	130844811	0.001000	0.12720	0.001000	0.08648	0.047000	0.14425	0.715000	0.25822	0.743000	0.32719	-0.218000	0.12543	GCC	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.572	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN18	protein_coding	OTTHUMT00000254523.2	G		-		131128341	1	no_errors	ENST00000175756	ensembl	human	known	74_37	missense	SNP	0.001	A	A	131128341	G	A	131128341	3	1	199	1	0	0	0	0	1	0	0	0	12790	1203	42	2	858	2	PTPN18	2	131128341	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	30217617	131128341	112071032	7	15737											
NEB	4703	genome.wustl.edu	37	chr2	152548372	152548377	+	Splice_Site	DEL	ACTTAC	ACTTAC	-													tcaataattcagggcagctaActtacatctttacactggtc							TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	ACTTAC	ACTTAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:152548372_152548377delACTTAC	ENST00000172853.10	-	23	2359		c.e23+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						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)		AGGGCAGCTAACTTACATCTTTACAC	0.359																																																	0								ENSG00000183091																																			NEB	SO:0001630	splice_region_variant	0				HGNC	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.2211+1GTAAGT>-	2.37:g.152548372_152548377delACTTAC		Somatic					0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	DEL							-	e21+1	ENST00000172853.10	37	c.2211+1_2211+1		2																																																																																			-	-		0.359	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		ACTTAC	NM_004543		Intron	152548377	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	splice_site_del	DEL	0.753:1.000:1.000:1.000:1.000:1.000	-	-	152548377	ACTTAC	-	152548372	8	5	199	1	0	1	0	1	0	0	1	0	10304	58	2	0		0	NEB	2	152548372	Splice_Site	DEL	ACTTAC	TCGA-QQ-A5V9-01A-11D-A32I-09	21420031	152548372	90651001	8	15738											
MYO3B	140469	genome.wustl.edu	37	chr2	171323084	171323084	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgcgctgcattaaaccCaatgatgaccgagaggccct	10	11	0	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:171323084C>A	ENST00000408978.4	+	25	3020	c.2877C>A	c.(2875-2877)ccC>ccA	p.P959P	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000334231.6_Silent_p.P968P|MYO3B_ENST00000409044.3_Silent_p.P959P	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	959	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATTAAACCCAATGATGACC	0.562																																																	0								ENSG00000071909						96	98	98					2																	171323084		1924	4136	6060	MYO3B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2877C>A	2.37:g.171323084C>A		Somatic	0	37	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P968	ENST00000408978.4	37	c.2904	CCDS42773.1	2																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.562	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	C		-		171323084	1	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	SNP	1.000	A	A	171323084	C	A	171323084	2	1	199	1	0	0	0	0	0	0	0	1	10079	581	21	3		3	MYO3B	2	171323084	Silent	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	18774712	171323084	71876289	9	15739											
NCKAP1	10787	genome.wustl.edu	37	chr2	183817934	183817934	+	Frame_Shift_Del	DEL	T	T	-													tattaaatactcttgtaataTcaatctgcacatagttttct							TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr2:183817934delT	ENST00000361354.4	-	21	2651	c.2279delA	c.(2278-2280)gatfs	p.D760fs	NCKAP1_ENST00000360982.2_Frame_Shift_Del_p.D766fs	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	760					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTTGTAATATCAATCTGCAC	0.358																																																	0								ENSG00000061676						140	134	136					2																	183817934		2202	4300	6502	NCKAP1	SO:0001589	frameshift_variant	0				HGNC	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2279delA	2.37:g.183817934delT	ENSP00000355348:p.Asp760fs	Somatic	0	66	0		0.59637776751237	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	62	21.52	O60329|Q53QN5|Q53S94|Q53Y35	Frame_Shift_Del	DEL							pfam_Nck-associated_protein-1	p.D766fs	ENST00000361354.4	37	c.2297	CCDS2287.1	2																																																																																			-	pfam_Nck-associated_protein-1		0.358	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	protein_coding	OTTHUMT00000255867.2	T	NM_205842			183817934	-1	no_errors	ENST00000360982	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	183817934	T	-	183817934	7	5	199	1	0	1	0	1	0	0	0	0	10223	1435	50	0	1151	0	NCKAP1	2	183817934	Frame_Shift_Del	DEL	T	TCGA-QQ-A5V9-01A-11D-A32I-09	12494850	183817934	59381439	10	15740											
RASSF1	11334	genome.wustl.edu	37	chr3	50368093	50368095	+	5'Flank	DEL	CTC	CTC	-													tgcaggatctggcggaggtgCtcctcctcctcccgctgcag							TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr3:50368093_50368095delCTC	ENST00000232496.4	-	0	0				RASSF1_ENST00000357043.2_In_Frame_Del_p.E318del|RASSF1_ENST00000327761.3_In_Frame_Del_p.E244del|RASSF1_ENST00000359365.4_In_Frame_Del_p.E314del|RASSF1_ENST00000395126.3_In_Frame_Del_p.E163del|TUSC2_ENST00000462137.1_5'Flank	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCGGAGGTGCTCCTCCTCCTCC	0.591																																																	0								ENSG00000068028																																			RASSF1	SO:0001631	upstream_gene_variant	0				HGNC	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"PDGFA associated protein 2"	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368102_50368104delCTC	Exception_encountered	Somatic	0	29	0		0.59637776751237	228	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	B2R4Y9	In_Frame_Del	DEL							pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E318in_frame_del	ENST00000232496.4	37	c.954_952	CCDS2819.1	3																																																																																			-	pfscan_SARAH_dom		0.591	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF1	protein_coding	OTTHUMT00000346399.1	CTC	NM_007275			50368095	-1	no_errors	ENST00000357043	ensembl	human	known	74_37	in_frame_del	DEL	0.996:1.000:1.000	-	-	50368095	CTC	-	50368093	6	5	199	0	1	1	0	1	0	0	0	0	13092	796	28	0		0	RASSF1	3	50368093	5'Flank	DEL	CTC	TCGA-QQ-A5V9-01A-11D-A32I-09		50368093	147654337	11	15741											
PRICKLE2	166336	genome.wustl.edu	37	chr3	64133374	64133374	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taggtcatttgaccttggtcGatacctaaaaaaatgagaga	9	6	1	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr3:64133374G>T	ENST00000295902.6	-	7	1377	c.792C>A	c.(790-792)atC>atA	p.I264I	PRICKLE2_ENST00000564377.1_Silent_p.I320I	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	264	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		GACCTTGGTCGATACCTAAAA	0.512																																																	0								ENSG00000163637						50	50	50					3																	64133374		2198	4295	6493	PRICKLE2	SO:0001819	synonymous_variant	0			-	HGNC	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.792C>A	3.37:g.64133374G>T		Somatic	0	23	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q0VF44	Silent	SNP							pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.I264	ENST00000295902.6	37	c.792	CCDS2902.1	3																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM		0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	protein_coding	OTTHUMT00000352219.1	G	NM_198859	-		64133374	-1	no_errors	ENST00000295902	ensembl	human	known	74_37	silent	SNP	0.090	T	T	64133374	G	T	64133374	2	4	199	1	0	0	0	0	0	0	0	1	12492	1048	37	3		3	PRICKLE2	3	64133374	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	13765281	64133374	133889056	12	15742											
POLQ	10721	genome.wustl.edu	37	chr3	121200587	121200587	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctaggagtggaagctcatGaggaagaaaactggtaacta	12	5	2	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr3:121200587G>T	ENST00000264233.5	-	19	6171	c.6043C>A	c.(6043-6045)Cat>Aat	p.H2015N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2015					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGAAGCTCATGAGGAAGAAAA	0.478								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						74	74	74					3																	121200587		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6043C>A	3.37:g.121200587G>T	ENSP00000264233:p.His2015Asn	Somatic	0	32	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	O95160|Q6VMB5	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.H2015N	ENST00000264233.5	37	c.6043	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070357	0.36566	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.22945	1.93	5.17	2.36	0.29203	Ribonuclease H-like (1);	0.622419	0.17637	N	0.167147	T	0.14227	0.0344	L	0.51422	1.61	0.23916	N	0.996479	P;B	0.38922	0.651;0.066	B;B	0.27608	0.081;0.012	T	0.17561	-1.0365	10	0.26408	T	0.33	.	1.3278	0.02129	0.2293:0.2487:0.378:0.144	.	2015;1187	O75417;O75417-2	DPOLQ_HUMAN;.	N	1638;2015;2151	ENSP00000264233:H2015N	ENSP00000264233:H2015N	H	-	1	0	POLQ	122683277	0.981000	0.34729	0.995000	0.50966	0.998000	0.95712	0.760000	0.26475	0.325000	0.23359	0.650000	0.86243	CAT	-	superfamily_RNaseH-like_dom		0.478	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	G	NM_199420	-		121200587	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	0.914	T	T	121200587	G	T	121200587	3	4	199	1	0	0	0	0	1	0	0	0	12210	1290	45	3	1777	3	POLQ	3	121200587	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	57067213	121200587	76821843	13	15743											
CCDC158	339965	genome.wustl.edu	37	chr4	77305549	77305549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgatttcttaaatcctcctGggactgactctcccttcgtc	6	14	2	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr4:77305549G>T	ENST00000388914.3	-	5	570	c.418C>A	c.(418-420)Cag>Aag	p.Q140K	CCDC158_ENST00000434846.2_Missense_Mutation_p.Q140K	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	140										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AAATCCTCCTGGGACTGACTC	0.343																																																	0								ENSG00000163749						75	67	70					4																	77305549		1844	4084	5928	CCDC158	SO:0001583	missense	0			-	HGNC	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.418C>A	4.37:g.77305549G>T	ENSP00000373566:p.Gln140Lys	Somatic	0	24	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP							superfamily_Prefoldin	p.Q140K	ENST00000388914.3	37	c.418	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663470	0.67700	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.39787	1.11;1.06	5.72	4.87	0.63330	.	0.000000	0.52532	D	0.000071	T	0.46852	0.1414	N	0.24115	0.695	0.31455	N	0.670283	P;D	0.58268	0.954;0.982	D;D	0.70227	0.954;0.968	T	0.48186	-0.9057	10	0.16896	T	0.51	.	13.9457	0.64082	0.0:0.1523:0.8477:0.0	.	140;140	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	K	140	ENSP00000373566:Q140K;ENSP00000401742:Q140K	ENSP00000316815:Q140K	Q	-	1	0	CCDC158	77524573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.411000	0.46957	0.655000	0.94253	CAG	-	NULL		0.343	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	protein_coding	OTTHUMT00000362694.2	G	NM_001042784	-		77305549	-1	no_errors	ENST00000388914	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77305549	G	T	77305549	3	4	199	1	0	0	0	0	1	0	0	0	2792	1357	47	3	3003	3	CCDC158	4	77305549	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		77305549	113848727	14	15744											
WDFY3	23001	genome.wustl.edu	37	chr4	85625498	85625498	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaaagttttacctgtagcCttaagaatatctgtgtgaaa	7	5	1	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr4:85625498C>G	ENST00000295888.4	-	55	8842	c.8435G>C	c.(8434-8436)aGg>aCg	p.R2812T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2795T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2812	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACCTGTAGCCTTAAGAATAT	0.358																																																	0								ENSG00000163625						81	86	84					4																	85625498		2203	4300	6503	WDFY3	SO:0001583	missense	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8435G>C	4.37:g.85625498C>G	ENSP00000295888:p.Arg2812Thr	Somatic	0	67	0		0.59637776751237	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2812T	ENST00000295888.4	37	c.8435	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610186	0.66558	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.79940	-1.32;-1.32;-1.32	6.03	6.03	0.97812	BEACH domain (4);	0.101891	0.64402	D	0.000004	T	0.79707	0.4492	L	0.46614	1.455	0.80722	D	1	P	0.38395	0.629	B	0.40982	0.345	T	0.75491	-0.3299	10	0.29301	T	0.29	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	2812	Q8IZQ1	WDFY3_HUMAN	T	2795;2812;415	ENSP00000318466:R2795T;ENSP00000295888:R2812T;ENSP00000424987:R415T	ENSP00000295888:R2812T	R	-	2	0	WDFY3	85844522	0.991000	0.36638	0.982000	0.44146	0.978000	0.69477	7.818000	0.86416	2.868000	0.98415	0.557000	0.71058	AGG	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	C	NM_014991	-		85625498	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	SNP	0.997	G	G	85625498	C	G	85625498	3	3	199	1	0	0	0	0	1	0	0	0	17277	681	24	4	2201	4	WDFY3	4	85625498	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	8319949	85625498	105528778	15	15745											
KIAA0947	23379	genome.wustl.edu	37	chr5	5460964	5460964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccattcataaactcactcGaggtctatgcattgagagat	8	9	3	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr5:5460964G>A	ENST00000296564.7	+	13	1739	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		506					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTCACTCGAGGTCTATGC	0.448																																																	0								ENSG00000164151						102	108	106					5																	5460964		1978	4143	6121	KIAA0947	SO:0001583	missense	0			-	HGNC																												ENST00000296564.7:c.1517G>A	5.37:g.5460964G>A	ENSP00000296564:p.Arg506Gln	Somatic	0	31	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP							superfamily_Vitellinogen_superhlx	p.R506Q	ENST00000296564.7	37	c.1517	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872585	0.17322	.	.	ENSG00000164151	ENST00000296564	T	0.45668	0.89	4.64	1.83	0.25207	.	2.348000	0.01721	N	0.028276	T	0.31765	0.0807	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13683	-1.0500	10	0.22706	T	0.39	-4.1291	7.2811	0.26312	0.3057:0.0:0.6943:0.0	.	506	Q9Y2F5	K0947_HUMAN	Q	506	ENSP00000296564:R506Q	ENSP00000296564:R506Q	R	+	2	0	KIAA0947	5513964	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.233000	0.17911	0.501000	0.28013	-0.680000	0.03767	CGA	-	NULL		0.448	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	protein_coding	OTTHUMT00000365575.1	G		-		5460964	1	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	SNP	0.000	A	A	5460964	G	A	5460964	3	1	199	1	0	0	0	0	1	0	0	0	8204	1058	37	1	1567	1	KIAA0947	5	5460964	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		5460964	175454296	16	15746											
ADCY2	108	genome.wustl.edu	37	chr5	7724664	7724664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctatttccaggcaatgGctcaagtctgaagacattca	7	10	4	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr5:7724664G>T	ENST00000338316.4	+	13	1799	c.1710G>T	c.(1708-1710)tgG>tgT	p.W570C	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.W390C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	570					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCAGGCAATGGCTCAAGTCTG	0.333																																																	0								ENSG00000078295						77	76	77					5																	7724664		2203	4300	6503	ADCY2	SO:0001583	missense	0			-	HGNC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1710G>T	5.37:g.7724664G>T	ENSP00000342952:p.Trp570Cys	Somatic	0	49	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W570C	ENST00000338316.4	37	c.1710	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221302	0.39300	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81659	-1.05;-1.52	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	N	0.20845	0.615	0.80722	D	1	P;B	0.50617	0.937;0.104	P;B	0.62435	0.902;0.09	T	0.76764	-0.2839	10	0.21014	T	0.42	.	16.8964	0.86101	0.0:0.0:1.0:0.0	.	390;570	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	570;403;390	ENSP00000342952:W570C;ENSP00000444803:W390C	ENSP00000342952:W570C	W	+	3	0	ADCY2	7777664	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.359000	0.90093	2.788000	0.95919	0.650000	0.86243	TGG	-	pfam_Adenylate_cyclase-like		0.333	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	G	NM_020546	-		7724664	1	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7724664	G	T	7724664	3	4	199	1	0	0	0	0	1	0	0	0	294	1212	42	3	1760	3	ADCY2	5	7724664	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	2263700	7724664	173190596	17	15747											
DNAH5	1767	genome.wustl.edu	37	chr5	13922290	13922290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctcaagaactcctggcGaatgttagctgcgtcctgaa	12	10	1	2	rs200314274		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr5:13922290G>A	ENST00000265104.4	-	5	690	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	196	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)					AACTCCTGGCGAATGTTAGCT	0.557									Kartagener syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		17820	0		0	False		,,,				2504	0																0								ENSG00000039139						88	77	81					5																	13922290		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.586C>T	5.37:g.13922290G>A	ENSP00000265104:p.Arg196Cys	Somatic	0	60	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	89	9.18	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R196C	ENST00000265104.4	37	c.586	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	14.28	2.487821	0.44249	.	.	ENSG00000039139	ENST00000265104	T	0.25912	1.77	5.55	5.55	0.83447	.	0.346876	0.27659	N	0.018393	T	0.31295	0.0792	M	0.62723	1.935	0.22156	N	0.999322	D	0.55605	0.972	P	0.44860	0.462	T	0.38222	-0.9671	10	0.87932	D	0	.	12.5941	0.56459	0.0:0.0:0.7218:0.2781	.	196	Q8TE73	DYH5_HUMAN	C	196	ENSP00000265104:R196C	ENSP00000265104:R196C	R	-	1	0	DNAH5	13975290	0.984000	0.35163	0.013000	0.15412	0.263000	0.26337	2.645000	0.46621	2.610000	0.88304	0.561000	0.74099	CGC	-	NULL		0.557	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	rs200314274		13922290	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	0.152	A	A	13922290	G	A	13922290	3	1	199	1	0	0	0	0	1	0	0	0	4606	1058	37	1	13588	1	DNAH5	5	13922290	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	6197626	13922290	166992970	18	15748											
CDH12	1010	genome.wustl.edu	37	chr5	21765143	21765143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatggcacagatatttctgGaggaaattcatttacatcta	7	6	3	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr5:21765143G>A	ENST00000382254.1	-	12	2545	c.1459C>T	c.(1459-1461)Cca>Tca	p.P487S	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P447S|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P487S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	487	Cadherin 4. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GATATTTCTGGAGGAAATTCA	0.343										HNSCC(59;0.17)																																							0								ENSG00000154162						111	112	112					5																	21765143		2203	4300	6503	CDH12	SO:0001583	missense	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1459C>T	5.37:g.21765143G>A	ENSP00000371689:p.Pro487Ser	Somatic	0	47	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	113	8.13	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P487S	ENST00000382254.1	37	c.1459	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908498	0.92107	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	D;D;D	0.88124	-2.34;-2.34;-2.34	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.048062	0.85682	D	0.000000	D	0.96300	0.8793	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97382	0.9983	10	0.87932	D	0	.	19.6743	0.95924	0.0:0.0:1.0:0.0	.	447;487	B7Z2U6;P55289	.;CAD12_HUMAN	S	487;487;447	ENSP00000423577:P487S;ENSP00000371689:P487S;ENSP00000428786:P447S	ENSP00000371689:P487S	P	-	1	0	CDH12	21800900	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.386000	0.97228	2.733000	0.93635	0.637000	0.83480	CCA	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.343	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	G	NM_004061	-		21765143	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21765143	G	A	21765143	3	1	199	1	0	0	0	0	1	0	0	0	3100	1174	41	2	941	2	CDH12	5	21765143	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	7842853	21765143	159150117	19	15749											
SLC4A9	83697	genome.wustl.edu	37	chr5	139751126	139751126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctgaccagggtccacCtcttcacagccatccagctt	7	17	3	1	rs370347102		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr5:139751126C>A	ENST00000230993.6	+	19	2694	c.2659C>A	c.(2659-2661)Ctc>Atc	p.L887I	SLC4A9_ENST00000507527.1_Missense_Mutation_p.L887I|SLC4A9_ENST00000506545.1_Missense_Mutation_p.L800I|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000506757.2_Missense_Mutation_p.L863I|SLC4A9_ENST00000432095.2_Missense_Mutation_p.L849I	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	887	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTCCACCTCTTCACAGC	0.547																																																	0								ENSG00000113073						145	148	147					5																	139751126		2072	4229	6301	SLC4A9	SO:0001583	missense	0			-	HGNC	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2659C>A	5.37:g.139751126C>A	ENSP00000230993:p.Leu887Ile	Somatic	0	27	0		0.59637776751237	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L887I	ENST00000230993.6	37	c.2659	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836922	0.71373	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.09	4.22	0.49857	Bicarbonate transporter, C-terminal (1);	0.000000	0.51477	D	0.000086	D	0.88934	0.6572	M	0.71206	2.165	0.58432	D	0.99999	P;D;D;D	0.89917	0.919;1.0;1.0;1.0	P;D;D;D	0.87578	0.681;0.998;0.996;0.996	D	0.88680	0.3201	10	0.54805	T	0.06	.	10.1557	0.42820	0.0:0.8483:0.0:0.1517	.	800;887;849;863	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	I	887;863;849;800;887	ENSP00000230993:L887I;ENSP00000424424:L863I;ENSP00000410056:L849I;ENSP00000422855:L800I;ENSP00000427661:L887I	ENSP00000230993:L887I	L	+	1	0	SLC4A9	139731310	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.233000	0.51311	1.391000	0.46566	0.643000	0.83706	CTC	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	C	NM_031467	-		139751126	1	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139751126	C	A	139751126	3	1	199	1	0	0	0	0	1	0	0	0	14668	681	24	3	2661	3	SLC4A9	5	139751126	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	117985983	139751126	41164134	20	15750											
HAVCR1	26762	genome.wustl.edu	37	chr5	156482233	156482233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaatctccaatgataCggtgattttcatgtcattga	8	8	3	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr5:156482233C>T	ENST00000339252.3	-	2	890	c.358G>A	c.(358-360)Gta>Ata	p.V120I	HAVCR1_ENST00000425854.1_Missense_Mutation_p.V120I|HAVCR1_ENST00000522693.1_Missense_Mutation_p.V120I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V120I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V120I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAATGATACGGTGATTTTC	0.378																																																	0								ENSG00000113249						80	69	73					5																	156482233		1929	4148	6077	HAVCR1	SO:0001583	missense	0			-	HGNC	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.358G>A	5.37:g.156482233C>T	ENSP00000344844:p.Val120Ile	Somatic	0	44	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	O43656	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.V120I	ENST00000339252.3	37	c.358	CCDS43392.1	5	.	.	.	.	.	.	.	.	.	.	C	2.559	-0.302386	0.05495	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.78	-11.6	0.00059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.824093	0.10571	N	0.659122	T	0.12347	0.0300	N	0.03917	-0.325	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12734	-1.0536	10	0.02654	T	1	-1.3323	5.4762	0.16697	0.1391:0.1871:0.0821:0.5917	.	120;120	F1CME6;Q96D42	.;HAVR1_HUMAN	I	120	ENSP00000428524:V120I;ENSP00000427898:V120I;ENSP00000344844:V120I;ENSP00000403333:V120I;ENSP00000440258:V120I;ENSP00000428422:V120I	ENSP00000344844:V120I	V	-	1	0	HAVCR1	156414811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.070000	0.00045	-2.429000	0.00558	-1.188000	0.01700	GTA	-	smart_Ig_sub,pfscan_Ig-like_dom		0.378	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR1	protein_coding	OTTHUMT00000373698.1	C		-		156482233	-1	no_errors	ENST00000425854	ensembl	human	known	74_37	missense	SNP	0.000	T	T	156482233	C	T	156482233	3	4	199	1	0	0	0	0	1	0	0	0	6975	536	19	1	764	1	HAVCR1	5	156482233	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	16731107	156482233	24433027	21	15751											
HEATR2	54919	genome.wustl.edu	37	chr7	825229	825229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtcatccacaagcaccGctcggccacctactgcgagc	10	18	1	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr7:825229G>A	ENST00000297440.6	+	13	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H|HEATR2_ENST00000313147.5_Intron	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607																																																	0								ENSG00000164818						72	69	70					7																	825229		2203	4300	6503	HEATR2	SO:0001583	missense	0			-	HGNC	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2507G>A	7.37:g.825229G>A	ENSP00000297440:p.Arg836His	Somatic	0	29	0		0.59637776751237	118	10.61	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	64	9.72	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R836H	ENST00000297440.6	37	c.2507	CCDS34580.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487539	0.84854	.	.	ENSG00000164818	ENST00000297440;ENST00000537862;ENST00000403952	T;T	0.66460	0.27;-0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81692	0.4876	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.945;0.99	T	0.82741	-0.0307	10	0.44086	T	0.13	-45.2734	15.4112	0.74923	0.0:0.0:1.0:0.0	.	836;261;582	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	H	836;582;261	ENSP00000297440:R836H;ENSP00000384884:R261H	ENSP00000297440:R836H	R	+	2	0	HEATR2	791755	1.000000	0.71417	0.988000	0.46212	0.621000	0.37620	3.835000	0.55805	2.233000	0.73108	0.462000	0.41574	CGC	-	NULL		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR2	protein_coding	OTTHUMT00000322542.1	G	NM_017802	-		825229	1	no_errors	ENST00000297440	ensembl	human	known	74_37	missense	SNP	1.000	A	A	825229	G	A	825229	3	1	199	1	0	0	0	0	1	0	0	0	7030	1087	38	1	2557	1	HEATR2	7	825229	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		825229	158313434	22	15752											
CUX1	1523	genome.wustl.edu	37	chr7	101844917	101844917	+	Frame_Shift_Del	DEL	C	C	-													ggtgcctctgctctgccgaaCcccccggccctcaaaaagga							TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr7:101844917delC	ENST00000292535.7	+	18	2378	c.2340delC	c.(2338-2340)aacfs	p.N780fs	CUX1_ENST00000550008.2_Frame_Shift_Del_p.N724fs|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Frame_Shift_Del_p.N678fs|CUX1_ENST00000549414.2_Frame_Shift_Del_p.N758fs|CUX1_ENST00000360264.3_Frame_Shift_Del_p.N791fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Frame_Shift_Del_p.N622fs|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	780					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTCTGCCGAACCCCCCGGCCC	0.667																																																	0								ENSG00000257923						59	68	65					7																	101844917		2203	4300	6503	CUX1	SO:0001589	frameshift_variant	0				HGNC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2340delC	7.37:g.101844917delC	ENSP00000292535:p.Asn780fs	Somatic	0	64	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Del	DEL							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.P793fs	ENST00000292535.7	37	c.2373	CCDS5721.1	7																																																																																			-	NULL		0.667	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	protein_coding	OTTHUMT00000347535.1	C	NM_001913			101844917	1	no_errors	ENST00000360264	ensembl	human	known	74_37	frame_shift_del	DEL	0.983	-	-	101844917	C	-	101844917	7	5	199	1	0	1	0	1	0	0	0	0	4066	506	18	0	2477	0	CUX1	7	101844917	Frame_Shift_Del	DEL	C	TCGA-QQ-A5V9-01A-11D-A32I-09	101019688	101844917	57293746	23	15753											
FLNC	2318	genome.wustl.edu	37	chr7	128490862	128490862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgccctgcaggagagGtgcggatgccctcggggaag	18	10	1	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr7:128490862G>A	ENST00000325888.8	+	33	5665	c.5404G>A	c.(5404-5406)Gtg>Atg	p.V1802M	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1769M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1802					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						TGCAGGAGAGGTGCGGATGCC	0.627																																																	0								ENSG00000128591						70	75	73					7																	128490862		2151	4231	6382	FLNC	SO:0001583	missense	0			-	HGNC	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.5404G>A	7.37:g.128490862G>A	ENSP00000327145:p.Val1802Met	Somatic	0	44	0		0.59637776751237	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V1802M	ENST00000325888.8	37	c.5404	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.185368	0.94885	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.56611	0.45;0.45	5.34	5.34	0.76211	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.93678	3.445	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.91635	0.999;0.984	D	0.86025	0.1509	10	0.87932	D	0	.	19.0452	0.93016	0.0:0.0:1.0:0.0	.	1769;1802	Q14315-2;Q14315	.;FLNC_HUMAN	M	1802;1769	ENSP00000327145:V1802M;ENSP00000344002:V1769M	ENSP00000327145:V1802M	V	+	1	0	FLNC	128278098	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.827000	0.99397	2.479000	0.83701	0.655000	0.94253	GTG	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	G		-		128490862	1	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128490862	G	A	128490862	3	1	199	1	0	0	0	0	1	0	0	0	5937	1261	44	2	5534	2	FLNC	7	128490862	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	26645945	128490862	30647801	24	15754											
KIAA1549	57670	genome.wustl.edu	37	chr7	138601629	138601629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggatggcaggggaggagCagcactactctctggggggc	19	9	1	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr7:138601629C>A	ENST00000422774.1	-	2	2791	c.2743G>T	c.(2743-2745)Gct>Tct	p.A915S	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A915S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A865S			Q9HCM3	K1549_HUMAN	KIAA1549	915						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGGAGGAGCAGCACTACTC	0.612			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778						38	43	41					7																	138601629		2141	4239	6380	KIAA1549	SO:0001583	missense	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2743G>T	7.37:g.138601629C>A	ENSP00000416040:p.Ala915Ser	Somatic	0	34	0		0.59637776751237	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.A915S	ENST00000422774.1	37	c.2743	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	6.545	0.468868	0.12461	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24350	1.86;1.87;1.87	4.4	-1.03	0.10102	.	1.204060	0.05991	N	0.646130	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B;B	0.17268	0.012;0.021	B;B	0.18561	0.01;0.022	T	0.31280	-0.9949	10	0.30078	T	0.28	.	3.8956	0.09138	0.1231:0.2107:0.4935:0.1728	.	915;915	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	S	915;865;915	ENSP00000406661:A915S;ENSP00000242365:A865S;ENSP00000416040:A915S	ENSP00000242365:A865S	A	-	1	0	KIAA1549	138252169	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.292000	0.08332	0.120000	0.18254	0.561000	0.74099	GCT	-	NULL		0.612	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	C		-		138601629	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	0.000	A	A	138601629	C	A	138601629	3	1	199	1	0	0	0	0	1	0	0	0	8246	710	25	3	3185	3	KIAA1549	7	138601629	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	10110767	138601629	20537034	25	15755											
PPP3CC	5533	genome.wustl.edu	37	chr8	22380189	22380189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcgaatgtacaggaagagCcaagccacaggctttccatc	9	11	0	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr8:22380189C>A	ENST00000240139.5	+	8	1197	c.870C>A	c.(868-870)agC>agA	p.S290R	PPP3CC_ENST00000397775.3_Missense_Mutation_p.S290R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.S290R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.S290R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	290					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		ACAGGAAGAGCCAAGCCACAG	0.368																																																	0								ENSG00000120910						85	86	86					8																	22380189		2203	4300	6503	PPP3CC	SO:0001583	missense	0			-	HGNC		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.870C>A	8.37:g.22380189C>A	ENSP00000240139:p.Ser290Arg	Somatic	0	31	0		0.59637776751237	24	46.67	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP							pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.S290R	ENST00000240139.5	37	c.870	CCDS34859.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.29|12.29	1.892952|1.892952	0.33442|0.33442	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05025	.|3.51;3.51;3.51;3.51;3.51	5.53|5.53	3.74|3.74	0.42951|0.42951	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	.|0.161342	.|0.64402	.|D	.|0.000002	T|T	0.04048|0.04048	0.0113|0.0113	N|N	0.04018|0.04018	-0.295|-0.295	0.48185|0.48185	D|D	0.999601|0.999601	.|P;D;P;P	.|0.52996	.|0.929;0.957;0.929;0.797	.|B;B;B;B	.|0.44085	.|0.361;0.44;0.255;0.342	T|T	0.52298|0.52298	-0.8594|-0.8594	5|10	.|0.87932	.|D	.|0	-8.0712|-8.0712	10.9842|10.9842	0.47513|0.47513	0.0:0.8466:0.0:0.1534|0.0:0.8466:0.0:0.1534	.|.	.|290;290;290;290	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	D|R	140;167|290;290;290;290;116	.|ENSP00000429379:S290R;ENSP00000240139:S290R;ENSP00000289963:S290R;ENSP00000380878:S290R;ENSP00000430555:S116R	.|ENSP00000240139:S290R	A|S	+|+	2|3	0|2	PPP3CC|PPP3CC	22436134|22436134	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.847000|0.847000	0.48162|0.48162	1.134000|1.134000	0.31442|0.31442	0.706000|0.706000	0.31912|0.31912	-0.253000|-0.253000	0.11424|0.11424	GCC|AGC	-	smart_Ser/Thr-sp_prot-phosphatase		0.368	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	protein_coding	OTTHUMT00000375652.1	C	NM_005605	-		22380189	1	no_errors	ENST00000240139	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22380189	C	A	22380189	3	1	199	1	0	0	0	0	1	0	0	0	12404	738	26	3	900	3	PPP3CC	8	22380189	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		22380189	123983833	26	15756											
KCNV1	27012	genome.wustl.edu	37	chr8	110980710	110980710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggttgtgtcaggaatGctttgctcagcaaagtattc	12	6	2	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr8:110980710G>C	ENST00000524391.1	-	4	2142	c.1110C>G	c.(1108-1110)agC>agG	p.S370R	KCNV1_ENST00000297404.1_Missense_Mutation_p.S370R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	370					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGTCAGGAATGCTTTGCTCAG	0.473																																																	0								ENSG00000164794						81	80	80					8																	110980710		2203	4300	6503	KCNV1	SO:0001583	missense	0			-	HGNC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1110C>G	8.37:g.110980710G>C	ENSP00000435954:p.Ser370Arg	Somatic	0	32	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	Q9UHJ4	Missense_Mutation	SNP							pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.S370R	ENST00000524391.1	37	c.1110	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234753	0.39498	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98381	-4.9;-4.9	5.62	2.86	0.33363	Ion transport (1);	0.209891	0.50627	D	0.000105	D	0.93831	0.8027	N	0.12527	0.23	0.28069	N	0.932669	P	0.44946	0.846	B	0.43445	0.42	D	0.90280	0.4314	10	0.87932	D	0	.	6.3819	0.21540	0.4176:0.0:0.5824:0.0	.	370	Q6PIU1	KCNV1_HUMAN	R	370;370;246	ENSP00000435954:S370R;ENSP00000297404:S370R	ENSP00000297404:S370R	S	-	3	2	KCNV1	111049886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.920000	0.40025	0.726000	0.32339	-0.140000	0.14226	AGC	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom		0.473	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	protein_coding	OTTHUMT00000385525.1	G	NM_014379	-		110980710	-1	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	SNP	0.998	C	C	110980710	G	C	110980710	3	2	199	1	0	0	0	0	1	0	0	0	8096	1310	46	4	396	4	KCNV1	8	110980710	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	88600521	110980710	35383312	27	15757											
DMRT1	1761	genome.wustl.edu	37	chr9	916825	916825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcattcttactacccGcctccctcttacctgggcca	7	16	2	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr9:916825G>A	ENST00000382276.3	+	4	1034	c.885G>A	c.(883-885)ccG>ccA	p.P295P	DMRT1_ENST00000569227.1_Silent_p.P137P	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	295			P -> L. {ECO:0000269|PubMed:10332030}.		cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CTTACTACCCGCCTCCCTCTT	0.512																																																	0								ENSG00000137090						140	119	126					9																	916825		2203	4300	6503	DMRT1	SO:0001819	synonymous_variant	0			-	HGNC	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.885G>A	9.37:g.916825G>A		Somatic	0	51	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	73	14.12	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Silent	SNP							pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P295	ENST00000382276.3	37	c.885	CCDS6442.1	9																																																																																			-	NULL		0.512	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	protein_coding	OTTHUMT00000051489.2	G	NM_021951	-		916825	1	no_errors	ENST00000382276	ensembl	human	known	74_37	silent	SNP	0.365	A	A	916825	G	A	916825	2	1	199	1	0	0	0	0	0	0	0	1	4587	1074	38	1		1	DMRT1	9	916825	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		916825	140296606	28	15758											
IFNW1	3467	genome.wustl.edu	37	chr9	21141089	21141089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaacttcccaggcacagtCgctgtatttcttctctttca	6	13	3	0	rs201715468	byFrequency	TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr9:21141089C>T	ENST00000380229.2	-	1	1055	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	161					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGGCACAGTCGCTGTATTTC	0.468																																																	0								ENSG00000177047						113	106	108					9																	21141089		2203	4300	6503	IFNW1	SO:0001583	missense	0			-	HGNC		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.481G>A	9.37:g.21141089C>T	ENSP00000369578:p.Asp161Asn	Somatic	0	46	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	65	16.67	Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.D161N	ENST00000380229.2	37	c.481	CCDS6496.1	9	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753040	0.69648	.	.	ENSG00000177047	ENST00000380229	T	0.03413	3.94	4.66	1.53	0.23141	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.082620	0.06987	N	0.820864	T	0.08537	0.0212	M	0.64404	1.975	0.09310	N	1	P	0.41159	0.74	B	0.42798	0.398	T	0.43081	-0.9413	10	0.52906	T	0.07	.	13.3013	0.60326	0.0:0.4022:0.5978:0.0	.	161	P05000	IFNW1_HUMAN	N	161	ENSP00000369578:D161N	ENSP00000369578:D161N	D	-	1	0	IFNW1	21131089	0.000000	0.05858	0.078000	0.20375	0.752000	0.42762	-0.334000	0.07883	0.525000	0.28522	0.557000	0.71058	GAC	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.468	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNW1	protein_coding	OTTHUMT00000051885.1	C	NM_002177	-		21141089	-1	no_errors	ENST00000380229	ensembl	human	known	74_37	missense	SNP	0.019	T	T	21141089	C	T	21141089	3	4	199	1	0	0	0	0	1	0	0	0	7554	884	31	1	110	1	IFNW1	9	21141089	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	20224264	21141089	120072342	29	15759											
DDX58	23586	genome.wustl.edu	37	chr9	32500870	32500870	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagctccaacaggaacttGagaaaaagtgtggcagcctc	12	9	0	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr9:32500870G>A	ENST00000379883.2	-	2	331	c.174C>T	c.(172-174)ctC>ctT	p.L58L	DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	58	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ACAGGAACTTGAGAAAAAGTG	0.448																																																	0								ENSG00000107201						90	92	91					9																	32500870		2203	4300	6503	DDX58	SO:0001819	synonymous_variant	0			-	HGNC	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.174C>T	9.37:g.32500870G>A		Somatic	0	48	0		0.59637776751237	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP							pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L58	ENST00000379883.2	37	c.174	CCDS6526.1	9																																																																																			-	superfamily_DEATH-like_dom		0.448	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	protein_coding	OTTHUMT00000052011.1	G	NM_014314	-		32500870	-1	no_errors	ENST00000379883	ensembl	human	known	74_37	silent	SNP	0.070	A	A	32500870	G	A	32500870	2	1	199	1	0	0	0	0	0	0	0	1	4377	1277	45	2		2	DDX58	9	32500870	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	11359781	32500870	108712561	30	15760											
GRIN3A	116443	genome.wustl.edu	37	chr9	104335644	104335644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtccgcaaggcagggagctCtcttctccttggagggaggg	17	10	2	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr9:104335644C>T	ENST00000361820.3	-	9	3760	c.3160G>A	c.(3160-3162)Gag>Aag	p.E1054K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1054					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCAGGGAGCTCTCTTCTCCTT	0.522																																																	0								ENSG00000198785						134	122	126					9																	104335644		2203	4300	6503	GRIN3A	SO:0001583	missense	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3160G>A	9.37:g.104335644C>T	ENSP00000355155:p.Glu1054Lys	Somatic	0	45	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.E1054K	ENST00000361820.3	37	c.3160	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032705	0.75504	.	.	ENSG00000198785	ENST00000361820	T	0.11169	2.8	5.38	5.38	0.77491	.	1.446720	0.03974	N	0.292116	T	0.17959	0.0431	M	0.66939	2.045	0.54753	D	0.999983	P	0.42010	0.768	B	0.30316	0.114	T	0.53585	-0.8418	10	0.41790	T	0.15	.	19.4894	0.95044	0.0:1.0:0.0:0.0	.	1054	Q8TCU5	NMD3A_HUMAN	K	1054	ENSP00000355155:E1054K	ENSP00000355155:E1054K	E	-	1	0	GRIN3A	103375465	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.206000	0.58473	2.686000	0.91538	0.655000	0.94253	GAG	-	NULL		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	C		-		104335644	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104335644	C	T	104335644	3	4	199	1	0	0	0	0	1	0	0	0	6785	922	32	2	191	2	GRIN3A	9	104335644	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	71834774	104335644	36877787	31	15761											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133963537	133963537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacatcctgggcgataacGccgtaagtgtatgtcgctct	12	10	1	0	rs199769239	byFrequency	TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr10:133963537G>A	ENST00000298622.4	+	15	2137	c.1999G>A	c.(1999-2001)Gcc>Acc	p.A667T	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	667						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGCGATAACGCCGTAAGTGT	0.622													G|||	5	0.000998403	0	0	5008	,	,		11670	0.001		0	False		,,,				2504	0.0041																0								ENSG00000188385						147	94	112					10																	133963537		2184	4285	6469	JAKMIP3	SO:0001583	missense	0			GMAF=0.0005	HGNC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1999G>A	10.37:g.133963537G>A	ENSP00000298622:p.Ala667Thr	Somatic	0	20	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP							NULL	p.A667T	ENST00000298622.4	37	c.1999	CCDS44494.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.119771	0.94385	.	.	ENSG00000188385	ENST00000298622	T	0.24908	1.83	3.84	3.84	0.44239	.	.	.	.	.	T	0.40473	0.1118	L	0.47716	1.5	0.48135	D	0.999592	D;D	0.89917	1.0;0.989	D;P	0.69824	0.966;0.498	T	0.13818	-1.0495	9	0.16420	T	0.52	.	15.8081	0.78531	0.0:0.0:1.0:0.0	.	104;667	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	T	667	ENSP00000298622:A667T	ENSP00000298622:A667T	A	+	1	0	JAKMIP3	133813527	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.159000	0.94728	1.697000	0.51169	0.299000	0.19835	GCC	-	NULL		0.622	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	protein_coding	OTTHUMT00000051049.3	G	NM_194303	rs199769239		133963537	1	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133963537	G	A	133963537	3	1	199	1	0	0	0	0	1	0	0	0	7944	1087	38	1	2057	1	JAKMIP3	10	133963537	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		133963537	1571210	32	15762											
AMPD3	272	genome.wustl.edu	37	chr11	10500123	10500123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgtctctgcaaatgcCgccacagcaagattggaagg	11	12	1	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:10500123C>T	ENST00000396554.3	+	3	640	c.299C>T	c.(298-300)cCg>cTg	p.P100L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	91					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGCAAATGCCGCCACAGCAA	0.572																																																	0								ENSG00000133805						129	152	144					11																	10500123		2201	4294	6495	AMPD3	SO:0001583	missense	0			-	HGNC	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.299C>T	11.37:g.10500123C>T	ENSP00000379802:p.Pro100Leu	Somatic	0	37	0		0.59637776751237	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP							pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.P91L	ENST00000396554.3	37	c.272	CCDS7802.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446950	0.63178	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.61218	1.895	0.80722	D	1	B;D;B	0.53462	0.061;0.96;0.061	B;B;B	0.40329	0.03;0.326;0.03	T	0.59611	-0.7422	10	0.17832	T	0.49	-21.3198	19.8628	0.96789	0.0:1.0:0.0:0.0	.	98;91;100	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	91;100;91;91;98;91	ENSP00000432707:P91L;ENSP00000379802:P100L;ENSP00000433284:P91L;ENSP00000379801:P91L;ENSP00000436987:P98L;ENSP00000431648:P91L	ENSP00000379801:P91L	P	+	2	0	AMPD3	10456699	1.000000	0.71417	0.964000	0.40570	0.972000	0.66771	5.710000	0.68392	2.697000	0.92050	0.643000	0.83706	CCG	-	pirsf_AMP_deaminase		0.572	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	protein_coding	OTTHUMT00000385783.2	C	NM_000480	-		10500123	1	no_errors	ENST00000396553	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10500123	C	T	10500123	3	4	199	1	0	0	0	0	1	0	0	0	587	652	23	1	329	1	AMPD3	11	10500123	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		10500123	124506393	33	15763											
IGSF22	283284	genome.wustl.edu	37	chr11	18729766	18729766	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactcacagagaaggctgcAtggatgcagagggctgtccc	13	11	1	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:18729766A>G	ENST00000513874.1	-	19	3214	c.3075T>C	c.(3073-3075)caT>caC	p.H1025H	RP11-1081L13.4_ENST00000527285.1_RNA|IGSF22_ENST00000510673.1_5'Flank	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	628										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGAAGGCTGCATGGATGCAGA	0.552																																																	0								ENSG00000179057						151	144	146					11																	18729766		692	1591	2283	IGSF22	SO:0001819	synonymous_variant	0			-	HGNC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3075T>C	11.37:g.18729766A>G		Somatic	0	39	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	A6NNA0|D6RGV7	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H1025	ENST00000513874.1	37	c.3075	CCDS41625.2	11																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.552	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	A	NM_173588	-		18729766	-1	no_errors	ENST00000513874	ensembl	human	known	74_37	silent	SNP	0.002	G	G	18729766	A	G	18729766	2	3	199	1	0	0	0	0	0	0	0	1	7602	214	8	5		5	IGSF22	11	18729766	Silent	SNP	A	TCGA-QQ-A5V9-01A-11D-A32I-09	8229643	18729766	116276750	34	15764											
PAX6	5080	genome.wustl.edu	37	chr11	31823240	31823240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggagtcgctactctcgGtttactaccaccgattgccc	8	14	2	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:31823240G>A	ENST00000379132.3	-	5	506	c.226C>T	c.(226-228)Ccg>Tcg	p.P76S	PAX6_ENST00000241001.8_Missense_Mutation_p.P76S|PAX6_ENST00000419022.1_Missense_Mutation_p.P90S|PAX6_ENST00000379129.2_Missense_Mutation_p.P90S|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379111.2_Missense_Mutation_p.P76S|PAX6_ENST00000379115.4_Missense_Mutation_p.P90S|PAX6_ENST00000379123.5_Missense_Mutation_p.P76S|PAX6_ENST00000379107.2_Missense_Mutation_p.P90S			P26367	PAX6_HUMAN	paired box 6	76	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 core promoter sequence-specific DNA binding (GO:0000979)|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)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GCTACTCTCGGTTTACTACCA	0.507									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																								0								ENSG00000007372						96	91	93					11																	31823240		2202	4299	6501	PAX6	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome	-	HGNC	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.226C>T	11.37:g.31823240G>A	ENSP00000368427:p.Pro76Ser	Somatic	0	54	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	57	19.72	Q6N006|Q99413	Missense_Mutation	SNP							pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.P90S	ENST00000379132.3	37	c.268	CCDS31451.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632375	0.87660	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	5.35	5.35	0.76521	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.188712	0.64402	D	0.000018	D	0.99782	0.9909	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97232	0.9885	10	0.87932	D	0	.	19.0586	0.93078	0.0:0.0:1.0:0.0	.	90;76	F1T0F8;P26367	.;PAX6_HUMAN	S	90;76;90;90;76;90;76;76;76;31	ENSP00000404100:P90S;ENSP00000368427:P76S;ENSP00000368424:P90S;ENSP00000368401:P90S;ENSP00000241001:P76S;ENSP00000368410:P90S;ENSP00000368406:P76S;ENSP00000368418:P76S;ENSP00000368403:P76S;ENSP00000451372:P31S	ENSP00000241001:P76S	P	-	1	0	PAX6	31779816	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.824000	0.99380	2.488000	0.83962	0.650000	0.86243	CCG	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom		0.507	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	protein_coding	OTTHUMT00000099293.4	G	NM_001604	-		31823240	-1	no_errors	ENST00000379107	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31823240	G	A	31823240	3	1	199	1	0	0	0	0	1	0	0	0	11485	1261	44	2	1074	2	PAX6	11	31823240	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	13093474	31823240	103183276	35	15765											
C11orf41	25758	genome.wustl.edu	37	chr11	33564330	33564330	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgtctttgccaacttttaaGaatacagaaacagcgaccca	7	10	1	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:33564330G>T	ENST00000321505.4	+	1	510	c.330G>T	c.(328-330)aaG>aaT	p.K110N	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.K110N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K110N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	110						integral component of membrane (GO:0016021)											CAACTTTTAAGAATACAGAAA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000110427						36	37	37					11																	33564330		1884	4107	5991	KIAA1549L	SO:0001583	missense	0			-	HGNC	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.330G>T	11.37:g.33564330G>T	ENSP00000315295:p.Lys110Asn	Somatic	0	32	0	841	0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B0QYU0	Missense_Mutation	SNP							NULL	p.K110N	ENST00000321505.4	37	c.330	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710129	0.30322	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.4	3.51	0.40186	.	.	.	.	.	T	0.24431	0.0592	N	0.19112	0.55	0.09310	N	1	B;P	0.41848	0.281;0.763	B;B	0.41619	0.056;0.361	T	0.05484	-1.0882	8	0.28530	T	0.3	-1.7241	8.8903	0.35429	0.171:0.0:0.829:0.0	.	110;110	E9PAT2;Q6ZVL6-2	.;.	N	110	.	ENSP00000265654:K110N	K	+	3	2	C11orf41	33520906	0.041000	0.20044	0.002000	0.10522	0.014000	0.08584	2.389000	0.44407	1.261000	0.44149	0.561000	0.74099	AAG	-	NULL		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	protein_coding	OTTHUMT00000317998.1	G	NM_012194	-		33564330	1	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	SNP	0.004	T	T	33564330	G	T	33564330	3	4	199	1	0	0	0	0	1	0	0	0	1642	933	33	3	332	3	C11orf41	11	33564330	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	1741090	33564330	101442186	36	15766											
ACCS	84680	genome.wustl.edu	37	chr11	44104824	44104824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatccccttcttgagtcGtggggctggcttcttcatct	13	11	4	1	rs138481594		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:44104824G>A	ENST00000263776.8	+	13	1651	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	406					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTCTTGAGTCGTGGGGCTGGC	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		19046	0		0	False		,,,				2504	0				Esophageal Squamous(158;148 1889 8077 23160 41213)												0								ENSG00000110455	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96	90	92		1217,1217	4.8	0.5	11	dbSNP_134	92	0,8600		0,0,4300	yes	missense,missense	ACCS	NM_001127219.1,NM_032592.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	406/502,406/502	44104824	1,13005	2203	4300	6503	ACCS	SO:0001583	missense	0			GMAF=0.0005	HGNC	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1217G>A	11.37:g.44104824G>A	ENSP00000263776:p.Arg406His	Somatic	0	81	0		0.59637776751237	26	13.33	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R406H	ENST00000263776.8	37	c.1217	CCDS7907.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.45	2.241820	0.39598	2.27E-4	0.0	ENSG00000110455	ENST00000263776	T	0.21734	1.99	5.7	4.76	0.60689	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.427181	0.27420	N	0.019451	T	0.25382	0.0617	M	0.65320	2	0.80722	D	1	B	0.22800	0.075	B	0.25291	0.059	T	0.03184	-1.1063	10	0.26408	T	0.33	-0.0882	16.4367	0.83878	0.0:0.131:0.869:0.0	.	406	Q96QU6	1A1L1_HUMAN	H	406	ENSP00000263776:R406H	ENSP00000263776:R406H	R	+	2	0	ACCS	44061400	0.998000	0.40836	0.455000	0.27031	0.921000	0.55340	4.266000	0.58871	2.689000	0.91719	0.511000	0.50034	CGT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	protein_coding	OTTHUMT00000389721.1	G	NM_032592	rs138481594		44104824	1	no_errors	ENST00000263776	ensembl	human	known	74_37	missense	SNP	0.642	A	A	44104824	G	A	44104824	3	1	199	1	0	0	0	0	1	0	0	0	133	1145	40	1	1263	1	ACCS	11	44104824	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	10540494	44104824	90901692	37	15767											
CARNS1	57571	genome.wustl.edu	37	chr11	67186392	67186392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgccacctactttttggCaggcctgggcctggggcctg	14	14	0	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:67186392C>A	ENST00000307823.3	+	4	613	c.161C>A	c.(160-162)gCa>gAa	p.A54E	CARNS1_ENST00000445895.2_Missense_Mutation_p.A177E|CARNS1_ENST00000531040.1_Missense_Mutation_p.A177E|CARNS1_ENST00000423745.2_Missense_Mutation_p.A54E	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	54					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TACTTTTTGGCAGGCCTGGGC	0.682																																																	0								ENSG00000172508						14	16	15					11																	67186392		1957	4123	6080	CARNS1	SO:0001583	missense	0			-	HGNC		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.161C>A	11.37:g.67186392C>A	ENSP00000308268:p.Ala54Glu	Somatic	0	72	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	70	14.63	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP							superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.A177E	ENST00000307823.3	37	c.530	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704259	0.30232	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.32988	1.45;1.49;1.49;1.43	4.06	3.09	0.35607	.	.	.	.	.	T	0.16471	0.0396	N	0.14661	0.345	0.32540	N	0.533808	P;B;P	0.36535	0.557;0.421;0.557	B;B;B	0.33620	0.167;0.08;0.167	T	0.12760	-1.0535	9	0.33940	T	0.23	.	9.4052	0.38457	0.0:0.6837:0.3163:0.0	.	177;54;193	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	E	177;54;177;193;54;177	ENSP00000431670:A177E;ENSP00000308268:A54E;ENSP00000401519:A54E;ENSP00000389009:A177E	ENSP00000308268:A54E	A	+	2	0	CARNS1	66942968	0.165000	0.22948	0.995000	0.50966	0.332000	0.28634	0.605000	0.24179	2.100000	0.63781	0.561000	0.74099	GCA	-	NULL		0.682	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	protein_coding	OTTHUMT00000395501.1	C	NM_020811	-		67186392	1	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	SNP	0.964	A	A	67186392	C	A	67186392	3	1	199	1	0	0	0	0	1	0	0	0	2658	710	25	3	544	3	CARNS1	11	67186392	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	23081568	67186392	67820124	38	15768											
BCL9L	283149	genome.wustl.edu	37	chr11	118771359	118771359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcagggtggtggaagaGttcatgttgagaggcggctg	18	5	2	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:118771359G>A	ENST00000334801.3	-	6	4057	c.3093C>T	c.(3091-3093)aaC>aaT	p.N1031N	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1031	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGTGGAAGAGTTCATGTTGA	0.632																																																	0								ENSG00000186174						100	103	102					11																	118771359		2200	4295	6495	BCL9L	SO:0001819	synonymous_variant	0			-	HGNC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3093C>T	11.37:g.118771359G>A		Somatic	0	24	0		0.59637776751237	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	7	68.18	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP							pfam_BCL9_beta-catenin-bd_dom	p.N1031	ENST00000334801.3	37	c.3093	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	5.029	0.190955	0.09547	.	.	ENSG00000186174	ENST00000530293	.	.	.	4.96	4.05	0.47172	.	.	.	.	.	T	0.59985	0.2234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57394	-0.7819	4	.	.	.	-9.8415	9.7427	0.40429	0.1567:0.0:0.8433:0.0	.	.	.	.	I	51	.	.	T	-	2	0	BCL9L	118276569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.550000	0.53691	1.304000	0.44892	-0.140000	0.14226	ACT	-	NULL		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	G	NM_182557	-		118771359	-1	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	SNP	1.000	A	A	118771359	G	A	118771359	2	1	199	1	0	0	0	0	0	0	0	1	1382	1020	36	2		2	BCL9L	11	118771359	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	51584967	118771359	16235157	39	15769											
OR6T1	219874	genome.wustl.edu	37	chr11	123814023	123814023	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgtcacgaaagaagtggtCaataccattggggccacaga	11	9	2	2	rs149839618	byFrequency	TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:123814023C>T	ENST00000321252.2	-	1	557	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	175						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAGAAGTGGTCAATACCATTG	0.552													C|||	3	0.000599042	0.0023	0	5008	,	,		21189	0		0	False		,,,				2504	0																0								ENSG00000181499	C	ASN/ASP	4,4400	11.4+/-27.6	0,4,2198	78	65	70		523	2.8	0.5	11	dbSNP_134	70	0,8598		0,0,4299	yes	missense	OR6T1	NM_001005187.1	23	0,4,6497	TT,TC,CC		0.0,0.0908,0.0308	benign	175/324	123814023	4,12998	2202	4299	6501	OR6T1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.523G>A	11.37:g.123814023C>T	ENSP00000325203:p.Asp175Asn	Somatic	0	41	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	Q6IFE7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D175N	ENST00000321252.2	37	c.523	CCDS31700.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.00	1.509876	0.27036	9.08E-4	0.0	ENSG00000181499	ENST00000321252	T	0.00107	8.72	3.7	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.10874	0.06	0.21105	N	0.999785	B	0.18741	0.03	B	0.26614	0.071	T	0.03344	-1.1046	9	0.33940	T	0.23	-23.0359	8.4746	0.33005	0.0:0.8817:0.0:0.1183	.	175	Q8NGN1	OR6T1_HUMAN	N	175	ENSP00000325203:D175N	ENSP00000325203:D175N	D	-	1	0	OR6T1	123319233	0.000000	0.05858	0.544000	0.28141	0.956000	0.61745	-0.453000	0.06778	0.735000	0.32537	0.563000	0.77884	GAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	protein_coding	OTTHUMT00000387264.1	C	NM_001005187	rs149839618		123814023	-1	no_errors	ENST00000321252	ensembl	human	known	74_37	missense	SNP	0.887	T	T	123814023	C	T	123814023	3	4	199	1	0	0	0	0	1	0	0	0	11212	826	29	2	451	2	OR6T1	11	123814023	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	5042664	123814023	11192493	40	15770											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128934794	128934794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcgatagctgaaaggCgtgacaggtaagccataagc	13	9	0	2	rs377461049		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr11:128934794C>T	ENST00000310343.9	-	7	661	c.662G>A	c.(661-663)cGc>cAc	p.R221H	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R147H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	221	PX; atypical.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGCTGAAAGGCGTGACAGGTA	0.423																																																	0								ENSG00000134909	C	HIS/ARG	0,3132		0,0,1566	49	45	46		662	5.6	1	11		46	1,7153		0,1,3576	no	missense	ARHGAP32	NM_001142685.1	29	0,1,5142	TT,TC,CC		0.014,0.0,0.0097	probably-damaging	221/2088	128934794	1,10285	1566	3577	5143	ARHGAP32	SO:0001583	missense	0			-	HGNC	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.662G>A	11.37:g.128934794C>T	ENSP00000310561:p.Arg221His	Somatic	0	62	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	52	16.13	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R221H	ENST00000310343.9	37	c.662	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024272	0.93462	0.0	1.4E-4	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677	T;T	0.42900	0.96;0.96	5.58	5.58	0.84498	Phox homologous domain (3);	.	.	.	.	T	0.68192	0.2974	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;P	0.69307	0.963;0.963;0.879	T	0.72704	-0.4213	9	0.87932	D	0	.	18.3254	0.90252	0.0:1.0:0.0:0.0	.	155;221;39	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	H	221;147;155	ENSP00000310561:R221H;ENSP00000432468:R147H	ENSP00000310561:R221H	R	-	2	0	ARHGAP32	128440004	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.621000	0.67743	2.631000	0.89168	0.591000	0.81541	CGC	-	pfam_Phox,superfamily_Phox		0.423	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	protein_coding	OTTHUMT00000386151.3	C	NM_014715	-		128934794	-1	no_errors	ENST00000310343	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128934794	C	T	128934794	3	4	199	1	0	0	0	0	1	0	0	0	881	768	27	1	5665	1	ARHGAP32	11	128934794	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	5120771	128934794	6071722	41	15771											
B4GALNT3	283358	genome.wustl.edu	37	chr12	665772	665772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaccagctacgtggggGtcgctacctcctggagcttg	14	12	1	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:665772G>A	ENST00000266383.5	+	15	2133	c.2120G>A	c.(2119-2121)gGt>gAt	p.G707D		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	707					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)			CTACGTGGGGGTCGCTACCTC	0.587																																																	0								ENSG00000139044						76	75	76					12																	665772		2203	4300	6503	B4GALNT3	SO:0001583	missense	0			-	HGNC	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.2120G>A	12.37:g.665772G>A	ENSP00000266383:p.Gly707Asp	Somatic	0	94	0		0.59637776751237	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	54	21.74	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP							pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.G707D	ENST00000266383.5	37	c.2120	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963220	0.53507	.	.	ENSG00000139044	ENST00000266383	T	0.15017	2.46	5.76	3.9	0.45041	.	0.176829	0.64402	D	0.000012	T	0.23611	0.0571	L	0.28274	0.84	0.39102	D	0.961305	P	0.46578	0.88	P	0.58660	0.843	T	0.02588	-1.1137	10	0.52906	T	0.07	-19.052	11.0079	0.47646	0.0704:0.1302:0.7994:0.0	.	707	Q6L9W6	B4GN3_HUMAN	D	707	ENSP00000266383:G707D	ENSP00000266383:G707D	G	+	2	0	B4GALNT3	536033	1.000000	0.71417	0.508000	0.27688	0.952000	0.60782	5.956000	0.70315	0.747000	0.32809	0.655000	0.94253	GGT	-	pfam_Chond_GalNAc		0.587	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	protein_coding	OTTHUMT00000251406.2	G	NM_173593	-		665772	1	no_errors	ENST00000266383	ensembl	human	known	74_37	missense	SNP	0.894	A	A	665772	G	A	665772	3	1	199	1	0	0	0	0	1	0	0	0	1268	1261	44	2	2178	2	B4GALNT3	12	665772	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		665772	133186123	42	15772											
ARID2	196528	genome.wustl.edu	37	chr12	46246549	46246549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaccccaacaatgctgGctgcagcgcaacaatggttg	11	12	0	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:46246549G>T	ENST00000334344.6	+	15	4815	c.4643G>T	c.(4642-4644)gGc>gTc	p.G1548V	ARID2_ENST00000457135.1_Missense_Mutation_p.G156V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1399V|ARID2_ENST00000444670.1_Missense_Mutation_p.G1158V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1548					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)			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)		AACAATGCTGGCTGCAGCGCA	0.463			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0								ENSG00000189079						70	63	65					12																	46246549		2203	4300	6503	ARID2	SO:0001583	missense	0			-	HGNC		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.4643G>T	12.37:g.46246549G>T	ENSP00000335044:p.Gly1548Val	Somatic	0	26	0		0.59637776751237	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP							pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G1548V	ENST00000334344.6	37	c.4643	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657425	0.47467	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.48201	0.82;1.59	6.02	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.32530	0.975	0.80722	D	1	P;P;P	0.52577	0.934;0.934;0.954	P;P;B	0.51016	0.656;0.532;0.255	T	0.45145	-0.9281	10	0.36615	T	0.2	-0.4907	17.4487	0.87586	0.0:0.1242:0.8758:0.0	.	1548;1158;1548	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	V	1548;665;665;1399;1158;156	ENSP00000335044:G1548V;ENSP00000388357:G156V	ENSP00000335044:G1548V	G	+	2	0	ARID2	44532816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	1.550000	0.49438	0.655000	0.94253	GGC	-	NULL		0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	G	XM_350875	-		46246549	1	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46246549	G	T	46246549	3	4	199	1	0	0	0	0	1	0	0	0	915	1203	42	3	4701	3	ARID2	12	46246549	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	45580777	46246549	87605346	43	15773											
HDAC7	51564	genome.wustl.edu	37	chr12	48189100	48189100	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccagtggaggcctgacccaGagagccgctcggtggtcatt	15	12	1	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:48189100G>C	ENST00000427332.2	-	11	1190	c.1034C>G	c.(1033-1035)tCt>tGt	p.S345C	HDAC7_ENST00000380610.4_Missense_Mutation_p.S401C|HDAC7_ENST00000080059.7_Missense_Mutation_p.S384C|HDAC7_ENST00000552960.1_Missense_Mutation_p.S367C|HDAC7_ENST00000354334.3_Missense_Mutation_p.S347C			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	345	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|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 kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCCTGACCCAGAGAGCCGCTC	0.682																																																	0								ENSG00000061273						15	19	17					12																	48189100		2196	4288	6484	HDAC7	SO:0001583	missense	0			-	HGNC	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1034C>G	12.37:g.48189100G>C	ENSP00000404394:p.Ser345Cys	Somatic	0	96	0		0.59637776751237	9	60.87	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	43	50.57	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP							pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S401C	ENST00000427332.2	37	c.1202		12	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329470	0.60743	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.60040	0.25;0.32;0.25;0.22;0.25	4.51	4.51	0.55191	.	0.483471	0.22578	N	0.058256	T	0.68247	0.2980	M	0.62723	1.935	0.28778	N	0.900019	D;D;D	0.54207	0.965;0.965;0.965	P;P;P	0.57101	0.813;0.813;0.813	T	0.65619	-0.6124	10	0.62326	D	0.03	.	14.4437	0.67336	0.0:0.0:1.0:0.0	.	384;367;347	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	C	384;347;367;401;345	ENSP00000080059:S384C;ENSP00000351326:S347C;ENSP00000448532:S367C;ENSP00000369984:S401C;ENSP00000404394:S345C	ENSP00000080059:S384C	S	-	2	0	HDAC7	46475367	0.271000	0.24162	1.000000	0.80357	0.929000	0.56500	1.325000	0.33724	2.499000	0.84300	0.561000	0.74099	TCT	-	pirsf_Histone_deAcase_II_euk		0.682	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	protein_coding	OTTHUMT00000328804.2	G		-		48189100	-1	no_errors	ENST00000380610	ensembl	human	known	74_37	missense	SNP	0.883	C	C	48189100	G	C	48189100	3	2	199	1	0	0	0	0	1	0	0	0	7014	942	33	4	1888	4	HDAC7	12	48189100	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	1942551	48189100	85662795	44	15774											
IKZF4	64375	genome.wustl.edu	37	chr12	56427018	56427018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgccagactccatgctgCactcatcctctgagcggcca	10	15	2	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:56427018C>T	ENST00000262032.5	+	11	1277	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.H259Y|IKZF4_ENST00000547167.1_Missense_Mutation_p.H304Y|IKZF4_ENST00000431367.2_Missense_Mutation_p.H202Y			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	304					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)			CTCCATGCTGCACTCATCCTC	0.527																																																	0								ENSG00000123411						122	117	119					12																	56427018		2045	4194	6239	IKZF4	SO:0001583	missense	0			-	HGNC	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.910C>T	12.37:g.56427018C>T	ENSP00000262032:p.His304Tyr	Somatic	0	43	0		0.59637776751237	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	Q96JP3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H304Y	ENST00000262032.5	37	c.910	CCDS44917.1	12	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550896	0.65311	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.07021	3.23;3.23;3.23;3.24	4.9	4.9	0.64082	.	0.000000	0.52532	D	0.000067	T	0.05868	0.0153	N	0.08118	0	0.43942	D	0.996609	B;P;B;P	0.49185	0.004;0.77;0.005;0.92	B;B;B;B	0.42692	0.001;0.395;0.004;0.346	T	0.54084	-0.8346	10	0.23891	T	0.37	-11.5658	17.0178	0.86424	0.0:1.0:0.0:0.0	.	202;259;263;304	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Y	304;202;304;259	ENSP00000262032:H304Y;ENSP00000412101:H202Y;ENSP00000448419:H304Y;ENSP00000450020:H259Y	ENSP00000262032:H304Y	H	+	1	0	IKZF4	54713285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.182000	0.77689	2.546000	0.85860	0.455000	0.32223	CAC	-	NULL		0.527	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF4	protein_coding	OTTHUMT00000407590.1	C	NM_022465	-		56427018	1	no_errors	ENST00000262032	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56427018	C	T	56427018	3	4	199	1	0	0	0	0	1	0	0	0	7619	710	25	2	936	2	IKZF4	12	56427018	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	8237918	56427018	77424877	45	15775											
TBX5	6910	genome.wustl.edu	37	chr12	114793771	114793771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatacatgcaagcttgccGctgtgccgactctgtcctgt	11	13	1	0	rs377532269		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:114793771G>A	ENST00000310346.4	-	9	1789	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	TBX5_ENST00000349716.5_Missense_Mutation_p.R325W|TBX5_ENST00000405440.2_Missense_Mutation_p.R375W	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	375					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R375W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAGCTTGCCGCTGTGCCGAC	0.592																																					NSCLC(152;1358 1980 4050 23898 40356)												2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|ovary(1)						ENSG00000089225	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	96	84	88		1123,973,1123	5.3	1	12		88	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	TBX5	NM_000192.3,NM_080717.2,NM_181486.1	101,101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	375/519,325/469,375/519	114793771	2,13004	2203	4300	6503	TBX5	SO:0001583	missense	0			-	HGNC	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1123C>T	12.37:g.114793771G>A	ENSP00000309913:p.Arg375Trp	Somatic	0	54	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R375W	ENST00000310346.4	37	c.1123	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979138	0.92982	0.0	2.33E-4	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.53206	0.63;0.63;0.63	5.27	5.27	0.74061	.	0.059422	0.64402	D	0.000001	T	0.71134	0.3304	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.75758	-0.3205	10	0.87932	D	0	.	18.8889	0.92391	0.0:0.0:1.0:0.0	.	375	Q99593	TBX5_HUMAN	W	325;375;272;375	ENSP00000337723:R325W;ENSP00000309913:R375W;ENSP00000384152:R375W	ENSP00000309913:R375W	R	-	1	2	TBX5	113278154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.463000	0.83235	0.655000	0.94253	CGG	-	NULL		0.592	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	protein_coding	OTTHUMT00000388297.1	G	NM_080717	-		114793771	-1	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114793771	G	A	114793771	3	1	199	1	0	0	0	0	1	0	0	0	15668	1086	38	1	437	1	TBX5	12	114793771	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	58366753	114793771	19058124	46	15776											
KNTC1	9735	genome.wustl.edu	37	chr12	123036012	123036012	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattttttctagattgtctGaagactcagtctctgtgtta	7	6	4	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:123036012G>A	ENST00000333479.7	+	15	1315	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	KNTC1_ENST00000450485.2_Missense_Mutation_p.E343K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	380					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAGATTGTCTGAAGACTCAGT	0.299																																																	0								ENSG00000184445						68	65	66					12																	123036012		1795	4049	5844	KNTC1	SO:0001583	missense	0			-	HGNC		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1138G>A	12.37:g.123036012G>A	ENSP00000328236:p.Glu380Lys	Somatic	0	73	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.67	A7E2C4|B3KSG2	Missense_Mutation	SNP							pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E380K	ENST00000333479.7	37	c.1138	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213619	0.58452	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.26373	1.74;2.28	5.55	5.55	0.83447	.	0.057695	0.64402	D	0.000001	T	0.43144	0.1234	L	0.59436	1.845	0.80722	D	1	D;P	0.60575	0.988;0.844	P;B	0.54759	0.76;0.386	T	0.18871	-1.0323	10	0.51188	T	0.08	-25.262	19.4917	0.95052	0.0:0.0:1.0:0.0	.	343;380	E7ES84;P50748	.;KNTC1_HUMAN	K	343;380	ENSP00000397992:E343K;ENSP00000328236:E380K	ENSP00000328236:E380K	E	+	1	0	KNTC1	121601965	1.000000	0.71417	0.993000	0.49108	0.363000	0.29612	4.103000	0.57783	2.608000	0.88229	0.478000	0.44815	GAA	-	NULL		0.299	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	protein_coding	OTTHUMT00000396110.2	G		-		123036012	1	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123036012	G	A	123036012	3	1	199	1	0	0	0	0	1	0	0	0	8430	1291	45	2	1192	2	KNTC1	12	123036012	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	8242241	123036012	10815883	47	15777											
PIWIL1	9271	genome.wustl.edu	37	chr12	130833979	130833979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataggtttagttgttcttacCaagtaagactgctttttaaa	7	5	1	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr12:130833979C>A	ENST00000245255.3	+	8	1202	c.930C>A	c.(928-930)acC>acA	p.T310T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	310	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGTTCTTACCAAGTAAGACT	0.299																																																	0								ENSG00000125207						45	44	44					12																	130833979		2203	4300	6503	PIWIL1	SO:0001819	synonymous_variant	0			-	HGNC	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.930C>A	12.37:g.130833979C>A		Somatic	0	38	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.T310	ENST00000245255.3	37	c.930	CCDS9268.1	12																																																																																			-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom		0.299	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	protein_coding	OTTHUMT00000399510.1	C		-		130833979	1	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	SNP	1.000	A	A	130833979	C	A	130833979	2	1	199	1	0	0	0	0	0	0	0	1	11959	581	21	3		3	PIWIL1	12	130833979	Silent	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	7797967	130833979	3017916	48	15778											
SOHLH2	54937	genome.wustl.edu	37	chr13	36765961	36765961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcagtaggaaaatatccCaggtgttcgctgtaggacct	11	8	1	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr13:36765961C>T	ENST00000379881.3	-	5	589	c.501G>A	c.(499-501)ctG>ctA	p.L167L	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.L244L|SOHLH2_ENST00000554962.1_Silent_p.L244L|SOHLH2_ENST00000317764.6_Silent_p.L167L	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	167					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAAAATATCCCAGGTGTTCGC	0.378																																																	0								ENSG00000250709						116	121	119					13																	36765961		2203	4300	6503	CCDC169-SOHLH2	SO:0001819	synonymous_variant	0			-	HGNC	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.501G>A	13.37:g.36765961C>T		Somatic	0	81	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L244	ENST00000379881.3	37	c.732	CCDS9355.1	13																																																																																			-	NULL		0.378	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	protein_coding	OTTHUMT00000044477.2	C	NM_017826	-		36765961	-1	no_errors	ENST00000511166	ensembl	human	known	74_37	silent	SNP	0.000	T	T	36765961	C	T	36765961	2	4	199	1	0	0	0	0	0	0	0	1	14932	581	21	2		2	SOHLH2	13	36765961	Silent	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		36765961	78403917	49	15779											
IPO5	3843	genome.wustl.edu	37	chr13	98655019	98655019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtttccaaaagaaatttCatgagaaggtaagtaacaag	9	5	1	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr13:98655019C>T	ENST00000490680.1	+	12	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	IPO5_ENST00000539640.1_Missense_Mutation_p.H314Y|IPO5_ENST00000261574.5_Missense_Mutation_p.H457Y			O00410	IPO5_HUMAN	importin 5	439					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AAAGAAATTTCATGAGAAGGT	0.418																																																	0								ENSG00000065150						98	95	96					13																	98655019		2203	4300	6503	IPO5	SO:0001583	missense	0			-	HGNC	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1315C>T	13.37:g.98655019C>T	ENSP00000418393:p.His439Tyr	Somatic	0	11	0		0.59637776751237	3	75	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.H457Y	ENST00000490680.1	37	c.1369		13	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877992	0.91664	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.100019	0.64402	D	0.000001	T	0.80423	0.4620	L	0.60904	1.88	0.80722	D	1	D;D;D	0.71674	0.998;0.988;0.993	D;P;D	0.74674	0.984;0.864;0.955	T	0.80529	-0.1342	10	0.62326	D	0.03	5.0338	19.8579	0.96771	0.0:1.0:0.0:0.0	.	314;439;457	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	Y	457;439;439;314	ENSP00000261574:H457Y;ENSP00000350219:H439Y;ENSP00000418393:H439Y;ENSP00000445126:H314Y	ENSP00000261574:H457Y	H	+	1	0	IPO5	97453020	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.752000	0.85141	2.683000	0.91414	0.557000	0.71058	CAT	-	superfamily_ARM-type_fold		0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	protein_coding	OTTHUMT00000354655.1	C	NM_002271	-		98655019	1	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98655019	C	T	98655019	3	4	199	1	0	0	0	0	1	0	0	0	7798	826	29	2	1419	2	IPO5	13	98655019	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	61889058	98655019	16514859	50	15780											
CCDC88C	440193	genome.wustl.edu	37	chr14	91744358	91744358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagggccgcactccgaCgtagggaggggctgtgcccc	17	14	0	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr14:91744358C>T	ENST00000389857.6	-	29	5052	c.4966G>A	c.(4966-4968)Gtc>Atc	p.V1656I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.V180I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1656					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGCACTCCGACGTAGGGAGGG	0.682																																																	0								ENSG00000015133						12	16	15					14																	91744358		1988	4158	6146	CCDC88C	SO:0001583	missense	0			-	HGNC		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4966G>A	14.37:g.91744358C>T	ENSP00000374507:p.Val1656Ile	Somatic	0	64	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP							pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.V1656I	ENST00000389857.6	37	c.4966	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418379	0.04766	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.42131	2.56;0.98	5.14	-1.17	0.09648	.	0.863662	0.09698	U	0.767420	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.023;0.021;0.021	B;B;B	0.13407	0.009;0.004;0.002	T	0.18745	-1.0327	10	0.28530	T	0.3	-0.6117	1.2284	0.01938	0.1255:0.2826:0.2466:0.3453	.	1656;180;106	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	I	1656;180;180	ENSP00000374507:V1656I;ENSP00000330332:V180I	ENSP00000330332:V180I	V	-	1	0	CCDC88C	90814111	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.865000	0.04250	-0.185000	0.10550	-0.448000	0.05591	GTC	-	NULL		0.682	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	protein_coding	OTTHUMT00000411650.1	C	XM_029353	-		91744358	-1	no_errors	ENST00000389857	ensembl	human	known	74_37	missense	SNP	0.000	T	T	91744358	C	T	91744358	3	4	199	1	0	0	0	0	1	0	0	0	2867	536	19	1	1128	1	CCDC88C	14	91744358	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		91744358	15605182	51	15781											
DNAJC17	55192	genome.wustl.edu	37	chr15	41066591	41066591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaactccaccacagcagtgCctggcttcttactggaaagc	8	14	1	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr15:41066591C>A	ENST00000220496.4	-	9	674	c.644G>T	c.(643-645)gGc>gTc	p.G215V		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	215	RRM.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CACAGCAGTGCCTGGCTTCTT	0.577																																																	0								ENSG00000104129						141	133	136					15																	41066591		2203	4300	6503	DNAJC17	SO:0001583	missense	0			-	HGNC	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.644G>T	15.37:g.41066591C>A	ENSP00000220496:p.Gly215Val	Somatic	0	34	0		0.59637776751237	110	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP							pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G215V	ENST00000220496.4	37	c.644	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253698	0.80135	.	.	ENSG00000104129	ENST00000220496	T	0.20463	2.07	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.101427	0.64402	D	0.000002	T	0.56093	0.1962	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65833	-0.6072	10	0.87932	D	0	.	16.6094	0.84858	0.0:1.0:0.0:0.0	.	215	Q9NVM6	DJC17_HUMAN	V	215	ENSP00000220496:G215V	ENSP00000220496:G215V	G	-	2	0	DNAJC17	38853883	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.251000	0.72441	2.700000	0.92200	0.561000	0.74099	GGC	-	pfam_RRM_dom		0.577	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	protein_coding	OTTHUMT00000252356.2	C	NM_018163	-		41066591	-1	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41066591	C	A	41066591	3	1	199	1	0	0	0	0	1	0	0	0	4638	739	26	3	282	3	DNAJC17	15	41066591	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		41066591	61464801	52	15782											
CCNDBP1	23582	genome.wustl.edu	37	chr15	43483857	43483857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacattgtggatatttctGatgaaatcagccctaggtaa	9	6	2	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr15:43483857G>A	ENST00000300213.4	+	8	1086	c.844G>A	c.(844-846)Gat>Aat	p.D282N	CCNDBP1_ENST00000356633.5_Missense_Mutation_p.D121N|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	282	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GGATATTTCTGATGAAATCAG	0.458																																																	0								ENSG00000166946						87	80	83					15																	43483857		2203	4299	6502	CCNDBP1	SO:0001583	missense	0			-	HGNC	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.844G>A	15.37:g.43483857G>A	ENSP00000300213:p.Asp282Asn	Somatic	0	19	0		0.59637776751237	121	17.12	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP							NULL	p.D282N	ENST00000300213.4	37	c.844	CCDS10092.1	15	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912419	0.33721	.	.	ENSG00000166946	ENST00000300213;ENST00000356633;ENST00000444658	T;T	0.43688	0.94;0.94	5.35	4.36	0.52297	.	0.568124	0.19629	N	0.109726	T	0.29223	0.0727	L	0.41079	1.255	0.33051	D	0.532739	B;B;B	0.17268	0.021;0.011;0.009	B;B;B	0.17098	0.017;0.008;0.005	T	0.21655	-1.0239	10	0.21540	T	0.41	-12.1265	6.0624	0.19844	0.1019:0.1938:0.7043:0.0	.	282;282;154	O95273-2;O95273;O95273-4	.;CCDB1_HUMAN;.	N	282;121;154	ENSP00000300213:D282N;ENSP00000349047:D121N	ENSP00000300213:D282N	D	+	1	0	CCNDBP1	41271149	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.791000	0.38744	2.792000	0.96026	0.555000	0.69702	GAT	-	NULL		0.458	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNDBP1	protein_coding	OTTHUMT00000253203.1	G	NM_012142	-		43483857	1	no_errors	ENST00000300213	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43483857	G	A	43483857	3	1	199	1	0	0	0	0	1	0	0	0	2921	1290	45	2	874	2	CCNDBP1	15	43483857	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	2417266	43483857	59047535	53	15783											
RASGRF1	5923	genome.wustl.edu	37	chr15	79298606	79298606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggcggtggtgaagacgCggtaggagtgcaggaaggtg	21	5	0	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr15:79298606C>T	ENST00000419573.3	-	15	2310	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	RASGRF1_ENST00000394745.3_5'Flank|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R666H|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	679	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGAAGACGCGGTAGGAGTG	0.597																																																	0								ENSG00000058335						176	146	156					15																	79298606		2196	4293	6489	RASGRF1	SO:0001583	missense	0			-	HGNC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2036G>A	15.37:g.79298606C>T	ENSP00000405963:p.Arg679His	Somatic	0	53	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R679H	ENST00000419573.3	37	c.2036	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675616	0.88445	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.42513	0.97	4.63	4.63	0.57726	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.997	D;D;D;D;D	0.79108	0.992;0.929;0.957;0.957;0.928	T	0.64084	-0.6490	10	0.54805	T	0.06	.	15.0277	0.71682	0.0:1.0:0.0:0.0	.	75;679;666;679;666	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	H	679;666	ENSP00000405963:R679H	ENSP00000378224:R666H	R	-	2	0	RASGRF1	77085661	1.000000	0.71417	0.987000	0.45799	0.887000	0.51463	7.473000	0.81007	2.413000	0.81919	0.591000	0.81541	CGC	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.597	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	C	NM_002891	-		79298606	-1	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79298606	C	T	79298606	3	4	199	1	0	0	0	0	1	0	0	0	13080	768	27	1	1841	1	RASGRF1	15	79298606	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	35814749	79298606	23232786	54	15784											
RASGRF1	5923	genome.wustl.edu	37	chr15	79350742	79350742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaagctgcttggccacGgtcttctctgtctccacgat	10	14	3	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr15:79350742G>A	ENST00000419573.3	-	3	739	c.465C>T	c.(463-465)acC>acT	p.T155T	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.T155T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	155					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTGGCCACGGTCTTCTCTG	0.602																																																	0								ENSG00000058335						129	105	113					15																	79350742		2196	4293	6489	RASGRF1	SO:0001819	synonymous_variant	0			-	HGNC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.465C>T	15.37:g.79350742G>A		Somatic	0	40	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T155	ENST00000419573.3	37	c.465	CCDS10309.1	15																																																																																			-	NULL		0.602	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	G	NM_002891	-		79350742	-1	no_errors	ENST00000419573	ensembl	human	known	74_37	silent	SNP	0.009	A	A	79350742	G	A	79350742	2	1	199	1	0	0	0	0	0	0	0	1	13080	1103	39	1		1	RASGRF1	15	79350742	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	52136	79350742	23180650	55	15785											
VAC14	55697	genome.wustl.edu	37	chr16	70765497	70765497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtaagaattcatggtgGgagttgaaggagaacattct	12	3	2	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr16:70765497G>T	ENST00000261776.5	-	14	1822	c.1562C>A	c.(1561-1563)cCc>cAc	p.P521H		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	521					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ATTCATGGTGGGAGTTGAAGG	0.448																																																	0								ENSG00000103043						132	135	134					16																	70765497		2198	4300	6498	VAC14	SO:0001583	missense	0			-	HGNC	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1562C>A	16.37:g.70765497G>T	ENSP00000261776:p.Pro521His	Somatic	0	48	0		0.59637776751237	31	3.12	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP							pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.P521H	ENST00000261776.5	37	c.1562	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770534	0.90108	.	.	ENSG00000103043	ENST00000261776	T	0.67523	-0.27	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.67953	2.075	0.80722	D	1	D	0.64830	0.994	P	0.55749	0.783	T	0.77086	-0.2718	10	0.46703	T	0.11	-32.7158	19.6058	0.95582	0.0:0.0:1.0:0.0	.	521	Q08AM6	VAC14_HUMAN	H	521	ENSP00000261776:P521H	ENSP00000261776:P521H	P	-	2	0	VAC14	69322998	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.254000	0.95512	2.722000	0.93159	0.655000	0.94253	CCC	-	superfamily_ARM-type_fold		0.448	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	protein_coding	OTTHUMT00000268973.3	G	NM_018052	-		70765497	-1	no_errors	ENST00000261776	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70765497	G	T	70765497	3	4	199	1	0	0	0	0	1	0	0	0	17118	1232	43	3	810	3	VAC14	16	70765497	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		70765497	19589256	56	15786											
DLG4	1742	genome.wustl.edu	37	chr17	7094060	7094060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctggaacccagatgtaGgggcctgagaggtcctcgat	16	10	0	2			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr17:7094060G>A	ENST00000399506.2	-	20	2333	c.2142C>T	c.(2140-2142)ccC>ccT	p.P714P	DLG4_ENST00000302955.6_Silent_p.P711P|DLG4_ENST00000399510.2_Silent_p.P757P			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	714					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCCAGATGTAGGGGCCTGAGA	0.602																																																	0								ENSG00000132535						87	92	90					17																	7094060		2072	4201	6273	DLG4	SO:0001819	synonymous_variant	0			-	HGNC	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.2142C>T	17.37:g.7094060G>A		Somatic	0	72	0		0.59637776751237	42	47.5	38	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	56	30.86	B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP							pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P757	ENST00000399506.2	37	c.2271		17																																																																																			-	pirsf_M-assoc_guanylate_kinase,superfamily_P-loop_NTPase		0.602	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	protein_coding	OTTHUMT00000259419.2	G	NM_001365	-		7094060	-1	no_errors	ENST00000399510	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7094060	G	A	7094060	2	1	199	1	0	0	0	0	0	0	0	1	4559	987	35	2		2	DLG4	17	7094060	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09		7094060	74101150	57	15787											
TP53	7157	genome.wustl.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	14	13	1	1	rs201744589		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	GRCh37	CM031387	TP53	M		ENSG00000141510						110	96	101					17																	7577046		2203	4300	6503	TP53	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;	-	HGNC	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.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	Somatic	0	62	0		0.59637776751237	11	42.11	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	22	68.92	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E298*	ENST00000269305.4	37	c.892	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG	-	NULL		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577046	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	7577046	C	A	7577046	4	1	199	1	0	0	0	0	0	1	0	0	16388	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09	482986	7577046	73618164	58	15788											
SLC5A10	125206	genome.wustl.edu	37	chr17	18918510	18918511	+	In_Frame_Ins	INS	-	-	CGGTAGGGGGGTGGGGGC													gggagctcctgctggtgggaINScggtacgggggtgggggcca					rs62066653|rs56122861		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr17:18918510_18918511insCGGTAGGGGGGTGGGGGC	ENST00000395645.3	+	11	1257_1258	c.1239_1240insCGGTAGGGGGGTGGGGGC	c.(1240-1242)cgg>CGGTAGGGGGGTGGGGGCcgg	p.414_414R>R*GGGGR	SLC5A10_ENST00000395642.1_In_Frame_Ins_p.347_347R>R*GGGGR|SLC5A10_ENST00000317977.6_In_Frame_Ins_p.347_347R>R*GGGGR|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.430_430R>R*GGGGR|SLC5A10_ENST00000417251.2_In_Frame_Ins_p.378_378R>R*GGGGR|SLC5A10_ENST00000395643.2_In_Frame_Ins_p.387_387R>R*GGGGR	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	414					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGCTGGTGGGACGGTACGGGGG	0.644																																																	0								ENSG00000154025																																			SLC5A10	SO:0001652	inframe_insertion	0				HGNC		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	Exception_encountered	17.37:g.18918510_18918511insCGGTAGGGGGGTGGGGGC	Exception_encountered	Somatic					0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	In_Frame_Ins	INS							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.LVI430in_frame_ins*	ENST00000395645.3	37	c.1287_1288	CCDS42275.1	17																																																																																			-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.644	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	protein_coding	OTTHUMT00000132129.2	-	NM_152351			18918511	1	no_errors	ENST00000395647	ensembl	human	known	74_37	in_frame_ins	INS	0.894:0.984	CGGTAGGGGGGTGGGGGC	CGGTAGGGGGGTGGGGGC	18918511	-	CGGTAGGGGGGTGGGGGC	18918510	7	5	199	1	0	1	1	0	0	0	0	0	14670	262	10	0	1329	0	SLC5A10	17	18918510	In_Frame_Ins	INS	-	TCGA-QQ-A5V9-01A-11D-A32I-09	11341464	18918510	62276700	59	15789											
SDK2	54549	genome.wustl.edu	37	chr17	71415397	71415397	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttggttcgaccgctggcGatgacgttctgtggaggggc	18	8	1	1	rs570731428		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr17:71415397G>A	ENST00000392650.3	-	16	2094	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	SDK2_ENST00000388726.3_Silent_p.I698I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	698	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				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						GACCGCTGGCGATGACGTTCT	0.572																																																	0								ENSG00000069188						63	55	58					17																	71415397		2203	4300	6503	SDK2	SO:0001819	synonymous_variant	0			-	HGNC	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.2094C>T	17.37:g.71415397G>A		Somatic	0	51	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	50	18.03	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I698	ENST00000392650.3	37	c.2094	CCDS45769.1	17																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.572	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064	-		71415397	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	silent	SNP	0.873	A	A	71415397	G	A	71415397	2	1	199	1	0	0	0	0	0	0	0	1	13977	1048	37	1		1	SDK2	17	71415397	Silent	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	52496887	71415397	9779813	60	15790											
ZNF358	140467	genome.wustl.edu	37	chr19	7584581	7584581	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccagcccgccccggcccttCtcctgcccggattgcgggcg	13	20	1	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr19:7584581C>T	ENST00000597229.1	+	2	623	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Silent_p.F151F	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	151					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						cccggcccTTCTCCTGCCCGG	0.741																																																	0								ENSG00000198816						4	7	6					19																	7584581		1787	3545	5332	ZNF358	SO:0001819	synonymous_variant	0			-	HGNC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.453C>T	19.37:g.7584581C>T		Somatic	0	22	0		0.59637776751237	49	31.94	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	Q9BTM7	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F151	ENST00000597229.1	37	c.453	CCDS32890.2	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	protein_coding	OTTHUMT00000316747.1	C		-		7584581	1	no_errors	ENST00000394341	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7584581	C	T	7584581	2	4	199	1	0	0	0	0	0	0	0	1	17874	912	32	2		2	ZNF358	19	7584581	Silent	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		7584581	51544402	61	15791											
FBN3	84467	genome.wustl.edu	37	chr19	8154784	8154784	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaggggctcaccttctcGggagtcatccgggcctggga	17	11	3	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr19:8154784G>A	ENST00000600128.1	-	50	6658	c.6244C>T	c.(6244-6246)Cga>Tga	p.R2082*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.R2082*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.R2082*			Q75N90	FBN3_HUMAN	fibrillin 3	2082						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTCTCGGGAGTCATCC	0.652																																																	0								ENSG00000142449						25	28	27					19																	8154784		2202	4298	6500	FBN3	SO:0001587	stop_gained	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6244C>T	19.37:g.8154784G>A	ENSP00000470498:p.Arg2082*	Somatic	0	45	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	72	8.86	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R2082*	ENST00000600128.1	37	c.6244	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	47	13.850246	0.99766	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	.	.	.	3.83	-0.959	0.10343	.	0.238731	0.35407	U	0.003238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	15.6999	0.77535	0.0:0.0:0.2511:0.7489	.	.	.	.	X	2082;188	.	ENSP00000270509:R2082X	R	-	1	2	FBN3	8060784	0.980000	0.34600	0.072000	0.20136	0.647000	0.38526	0.696000	0.25541	-0.329000	0.08527	0.462000	0.41574	CGA	-	superfamily_TB_dom,pirsf_FBN		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447	-		8154784	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	nonsense	SNP	0.912	A	A	8154784	G	A	8154784	4	1	199	1	0	0	0	0	0	1	0	0	5706	1124	39	1	2245	1	FBN3	19	8154784	Nonsense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	570203	8154784	50974199	62	15792											
COMP	1311	genome.wustl.edu	37	chr19	18898454	18898454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttccgcaccagcgggcaGttgtcctggatgacagggtg	17	10	0	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr19:18898454G>T	ENST00000222271.2	-	10	1025	c.981C>A	c.(979-981)aaC>aaA	p.N327K	COMP_ENST00000542601.2_Missense_Mutation_p.N294K|COMP_ENST00000425807.1_Missense_Mutation_p.N274K	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	327					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCAGCGGGCAGTTGTCCTGGA	0.597																																																	0								ENSG00000105664						117	100	106					19																	18898454		2203	4300	6503	COMP	SO:0001583	missense	0			-	HGNC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.981C>A	19.37:g.18898454G>T	ENSP00000222271:p.Asn327Lys	Somatic	0	29	0		0.59637776751237	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	9.76	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.N327K	ENST00000222271.2	37	c.981	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409746	0.62399	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.99409	-5.85;-5.85;-5.85	3.33	1.14	0.20703	.	0.000000	0.85682	U	0.000000	D	0.99518	0.9828	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.96	D	0.99632	1.0986	10	0.87932	D	0	-43.7709	7.4557	0.27266	0.2244:0.0:0.7756:0.0	.	274;327	B4DKJ3;P49747	.;COMP_HUMAN	K	294;327;274;314	ENSP00000439156:N294K;ENSP00000222271:N327K;ENSP00000403792:N274K	ENSP00000222271:N327K	N	-	3	2	COMP	18759454	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	2.692000	0.47018	0.239000	0.21243	0.313000	0.20887	AAC	-	pfam_Thrombospondin_3-like_rpt		0.597	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	protein_coding	OTTHUMT00000403457.1	G	NM_000095	-		18898454	-1	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18898454	G	T	18898454	3	4	199	1	0	0	0	0	1	0	0	0	3726	1020	36	3	1332	3	COMP	19	18898454	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	10743670	18898454	40230529	63	15793											
PAFAH1B3	5050	genome.wustl.edu	37	chr19	42804136	42804136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaccagcaccacaacccGggcctggggctgtcgctcat	10	17	2	0	rs200814337		TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr19:42804136G>A	ENST00000262890.3	-	4	655	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.R132W	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	132					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				ACCACAACCCGGGCCTGGGGC	0.592																																																	0								ENSG00000079462						124	121	122					19																	42804136		2203	4300	6503	PAFAH1B3	SO:0001583	missense	0			-	HGNC	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.394C>T	19.37:g.42804136G>A	ENSP00000262890:p.Arg132Trp	Somatic	0	58	0		0.59637776751237	35	20.45	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	Q53X88	Missense_Mutation	SNP							NULL	p.R132W	ENST00000262890.3	37	c.394	CCDS12602.1	19	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504974	0.64410	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.48201	0.82;0.82	5.59	5.59	0.84812	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.253571	0.40302	N	0.001122	T	0.54838	0.1883	L	0.43923	1.385	0.34997	D	0.75558	D	0.76494	0.999	P	0.58620	0.842	T	0.66240	-0.5973	10	0.62326	D	0.03	-23.6663	12.078	0.53655	0.0:0.0:0.8281:0.1719	.	132	Q15102	PA1B3_HUMAN	W	132	ENSP00000444935:R132W;ENSP00000262890:R132W	ENSP00000262890:R132W	R	-	1	2	PAFAH1B3	47495976	0.966000	0.33281	1.000000	0.80357	0.986000	0.74619	1.211000	0.32382	2.622000	0.88805	0.563000	0.77884	CGG	-	NULL		0.592	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B3	protein_coding	OTTHUMT00000463726.1	G	NM_002573	rs200814337		42804136	-1	no_errors	ENST00000262890	ensembl	human	known	74_37	missense	SNP	1.000	A	A	42804136	G	A	42804136	3	1	199	1	0	0	0	0	1	0	0	0	11388	1115	39	1	309	1	PAFAH1B3	19	42804136	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	23905682	42804136	16324847	64	15794											
TPRX1	284355	genome.wustl.edu	37	chr19	48305491	48305502	+	In_Frame_Del	DEL	GATTGGGCCTGG	GATTGGGCCTGG	-													ataattgggcctgggcctgaGattgggcctgggattgggcc					rs567983193	byFrequency	TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	GATTGGGCCTGG	GATTGGGCCTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr19:48305491_48305502delGATTGGGCCTGG	ENST00000322175.3	-	2	921_932	c.766_777delCCAGGCCCAATC	c.(766-777)ccaggcccaatcdel	p.PGPI256del	TPRX1_ENST00000543508.1_In_Frame_Del_p.PGPI246del|TPRX1_ENST00000535759.1_In_Frame_Del_p.PGPI353del	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	256	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ctgggcctgagattgggcctgggattgggcct	0.656																																					Esophageal Squamous(123;175 2281 3051 32395)												0								ENSG00000178928																																			TPRX1	SO:0001651	inframe_deletion	0				HGNC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.766_777delCCAGGCCCAATC	19.37:g.48305491_48305502delGATTGGGCCTGG	ENSP00000323455:p.Pro256_Ile259del	Somatic					0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A5D8Y3|B2RPL5	In_Frame_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.PGPI353in_frame_del	ENST00000322175.3	37	c.1068_1057	CCDS33066.1	19																																																																																			-	NULL		0.656	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	protein_coding	OTTHUMT00000409868.1	GATTGGGCCTGG	NM_198479			48305502	-1	no_errors	ENST00000535759	ensembl	human	known	74_37	in_frame_del	DEL	0.797:0.775:0.029:0.021:0.020:0.012:0.004:0.004:0.004:0.005:0.013:0.013	-	-	48305502	GATTGGGCCTGG	-	48305491	7	5	199	1	0	1	0	1	0	0	0	0	16429	932	33	0	462	0	TPRX1	19	48305491	In_Frame_Del	DEL	GATTGGGCCTGG	TCGA-QQ-A5V9-01A-11D-A32I-09	5501355	48305491	10823492	65	15795											
MYLK2	85366	genome.wustl.edu	37	chr20	30418869	30418869	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaccccagagttcctgtCacctgaggtggtgaattatg	13	9	1	3			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr20:30418869C>T	ENST00000375994.2	+	9	1622	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.S450L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	450	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)			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)			GAGTTCCTGTCACCTGAGGTG	0.542																																																	0								ENSG00000101306						106	94	98					20																	30418869		2203	4300	6503	MYLK2	SO:0001583	missense	0			-	HGNC	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.1349C>T	20.37:g.30418869C>T	ENSP00000365162:p.Ser450Leu	Somatic	0	84	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	159	16.67	Q569L1|Q96I84	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S450L	ENST00000375994.2	37	c.1349	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447003	0.84101	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.47528	0.84;0.84	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	0.67534	0.2903	M	0.79475	2.455	0.51233	D	0.999912	D	0.64830	0.994	D	0.67231	0.95	T	0.73877	-0.3844	9	0.87932	D	0	.	15.0963	0.72238	0.0:1.0:0.0:0.0	.	450	Q9H1R3	MYLK2_HUMAN	L	450	ENSP00000365162:S450L;ENSP00000365152:S450L	ENSP00000365152:S450L	S	+	2	0	MYLK2	29882530	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.524000	0.81866	2.172000	0.68678	0.561000	0.74099	TCA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	protein_coding	OTTHUMT00000078583.2	C	NM_033118	-		30418869	1	no_errors	ENST00000375985	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30418869	C	T	30418869	3	4	199	1	0	0	0	0	1	0	0	0	10059	838	29	2	1383	2	MYLK2	20	30418869	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		30418869	32606651	66	15796											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19744557	19744557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctggacagtttacttctCcatcacaaaataaatcagct	4	11	4	0			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr21:19744557C>T	ENST00000284885.3	-	6	650	c.617G>A	c.(616-618)gGa>gAa	p.G206E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	206	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					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						GTTTACTTCTCCATCACAAAA	0.408																																																	0								ENSG00000154646						126	108	114					21																	19744557		2203	4300	6503	TMPRSS15	SO:0001583	missense	0			-	HGNC		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.617G>A	21.37:g.19744557C>T	ENSP00000284885:p.Gly206Glu	Somatic	0	25	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	Q2NKL7	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.G206E	ENST00000284885.3	37	c.617	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144911	0.77888	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	D;D	0.96716	-4.05;-4.1	4.95	4.95	0.65309	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	M	0.93763	3.455	0.44660	D	0.997641	D	0.89917	1.0	D	0.97110	1.0	D	0.99063	1.0831	9	.	.	.	.	13.547	0.61709	0.0:1.0:0.0:0.0	.	206	P98073	ENTK_HUMAN	E	206;176	ENSP00000284885:G206E;ENSP00000398253:G176E	.	G	-	2	0	TMPRSS15	18666428	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.179000	0.58290	2.567000	0.86603	0.557000	0.71058	GGA	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.408	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	C	NM_002772	-		19744557	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19744557	C	T	19744557	3	4	199	1	0	0	0	0	1	0	0	0	16253	855	30	2	2522	2	TMPRSS15	21	19744557	Missense_Mutation	SNP	C	TCGA-QQ-A5V9-01A-11D-A32I-09		19744557	28385338	67	15797											
CARD10	29775	genome.wustl.edu	37	chr22	37904671	37904671	+	Frame_Shift_Del	DEL	C	C	-													gatgcgctcggagcccggggCccccggccggctcgcctcct							TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chr22:37904671delC	ENST00000403299.1	-	6	1144	c.928delG	c.(928-930)gccfs	p.A310fs	CARD10_ENST00000251973.5_Frame_Shift_Del_p.A310fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.A24fs|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	310					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GAGCCCGGGGCCCCCGGCCGG	0.697																																																	0								ENSG00000100065						7	8	8					22																	37904671		2168	4224	6392	CARD10	SO:0001589	frameshift_variant	0				HGNC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.928delG	22.37:g.37904671delC	ENSP00000384570:p.Ala310fs	Somatic	0	16	0		0.59637776751237	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL							pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A310fs	ENST00000403299.1	37	c.928	CCDS13948.1	22																																																																																			-	NULL		0.697	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	protein_coding	OTTHUMT00000318997.1	C	NM_014550			37904671	-1	no_errors	ENST00000251973	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	37904671	C	-	37904671	7	5	199	1	0	1	0	1	0	0	0	0	2646	739	26	0	2234	0	CARD10	22	37904671	Frame_Shift_Del	DEL	C	TCGA-QQ-A5V9-01A-11D-A32I-09		37904671	13399895	68	15798											
KLF8	11279	genome.wustl.edu	37	chrX	56276720	56276720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaattcagaaggtggctcaAtgcaggtattcaagcaggtc	11	7	3	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chrX:56276720A>G	ENST00000468660.1	+	2	352	c.64A>G	c.(64-66)Atg>Gtg	p.M22V	KLF8_ENST00000374928.3_Missense_Mutation_p.M22V	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGGTGGCTCAATGCAGGTATT	0.348																																																	0								ENSG00000102349						121	118	119					X																	56276720		2203	4300	6503	KLF8	SO:0001583	missense	0			-	HGNC	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.64A>G	X.37:g.56276720A>G	ENSP00000417303:p.Met22Val	Somatic	0	21	0		0.59637776751237	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M22V	ENST00000468660.1	37	c.64	CCDS14373.1	X	.	.	.	.	.	.	.	.	.	.	A	8.173	0.792147	0.16258	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.05199	3.48	3.03	1.8	0.24995	.	0.145340	0.32372	N	0.006186	T	0.04770	0.0129	L	0.29908	0.895	0.23277	N	0.997995	B;B	0.15930	0.015;0.003	B;B	0.17098	0.017;0.004	T	0.34030	-0.9845	10	0.66056	D	0.02	.	5.422	0.16405	0.7095:0.2905:0.0:0.0	.	22;22	E7EQQ8;O95600	.;KLF8_HUMAN	V	22	ENSP00000417303:M22V	ENSP00000431911:M22V	M	+	1	0	KLF8	56293445	1.000000	0.71417	0.981000	0.43875	0.768000	0.43524	3.451000	0.52964	0.377000	0.24735	0.486000	0.48141	ATG	-	NULL		0.348	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	protein_coding	OTTHUMT00000056887.2	A	NM_007250	-		56276720	1	no_errors	ENST00000468660	ensembl	human	known	74_37	missense	SNP	0.978	G	G	56276720	A	G	56276720	3	3	199	1	0	0	0	0	1	0	0	0	8354	101	4	5	70	5	KLF8	23	56276720	Missense_Mutation	SNP	A	TCGA-QQ-A5V9-01A-11D-A32I-09		56276720	98993840	69	15799											
TMLHE	55217	genome.wustl.edu	37	chrX	154736707	154736707	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaattcctcaggtgccttttGaagtacctgttctgctgcat	8	10	2	1			TCGA-QQ-A5V9-01A-11D-A32I-09	TCGA-QQ-A5V9-11A-31D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ae3de4e-4700-435a-add1-586224c5838b	f3212ce3-7a66-415a-9ef8-f1669ed8940e	g.chrX:154736707G>C	ENST00000334398.3	-	6	992	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	TMLHE_ENST00000369439.4_Missense_Mutation_p.Q283E|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	283					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGCCTTTTGAAGTACCTGT	0.408																																																	0								ENSG00000185973						128	121	123					X																	154736707		2203	4300	6503	TMLHE	SO:0001583	missense	0			-	HGNC	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.847C>G	X.37:g.154736707G>C	ENSP00000335261:p.Gln283Glu	Somatic	0	37	0		0.59637776751237	14	53.33	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	30	41.18	A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP							pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.Q283E	ENST00000334398.3	37	c.847	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	G	5.464	0.270626	0.10349	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;T	0.81659	-1.52;-0.91	4.42	4.42	0.53409	.	0.249192	0.41194	D	0.000931	T	0.61640	0.2363	N	0.12853	0.265	0.35597	D	0.807523	B;B;B	0.16603	0.018;0.015;0.012	B;B;B	0.17722	0.019;0.017;0.019	T	0.60151	-0.7319	10	0.02654	T	1	-13.3302	13.9524	0.64126	0.0:0.0:1.0:0.0	.	283;283;283	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	E	283	ENSP00000335261:Q283E;ENSP00000358447:Q283E	ENSP00000335261:Q283E	Q	-	1	0	TMLHE	154389901	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.509000	0.53386	1.951000	0.56629	0.494000	0.49563	CAA	-	pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase		0.408	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	protein_coding	OTTHUMT00000058817.1	G	NM_018196	-		154736707	-1	no_errors	ENST00000334398	ensembl	human	known	74_37	missense	SNP	0.996	C	C	154736707	G	C	154736707	3	2	199	1	0	0	0	0	1	0	0	0	16239	1299	45	4	570	4	TMLHE	23	154736707	Missense_Mutation	SNP	G	TCGA-QQ-A5V9-01A-11D-A32I-09	98459987	154736707	533853	70	15800											
DVL1	1855	genome.wustl.edu	37	chr1	1275822	1275822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggcgctgcttcctccGccggcgtttgtgcttccgga	13	15	0	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr1:1275822G>A	ENST00000378888.5	-	6	951	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	DVL1_ENST00000378891.5_Missense_Mutation_p.R223W			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	223	Poly-Arg.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCTTCCTCCGCCGGCGTTTG	0.667																																																	0								ENSG00000107404						34	40	38					1																	1275822		2196	4294	6490	DVL1	SO:0001583	missense	0			-	HGNC	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.667C>T	1.37:g.1275822G>A	ENSP00000368166:p.Arg223Trp	Somatic	0	90	0		0.589148871452117	18	68.42	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	57	19.72	Q5TA33|Q5TA35	Missense_Mutation	SNP							pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.R223W	ENST00000378888.5	37	c.667		1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729294	0.48833	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.07688	3.22;3.17	3.6	1.41	0.22369	.	0.064020	0.64402	D	0.000008	T	0.27313	0.0670	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.12578	-1.0542	10	0.87932	D	0	.	12.288	0.54803	0.0:0.0:0.6266:0.3734	.	223	O14640-2	.	W	223	ENSP00000368169:R223W;ENSP00000368166:R223W	ENSP00000368166:R223W	R	-	1	2	DVL1	1265685	1.000000	0.71417	0.960000	0.40013	0.610000	0.37248	2.097000	0.41748	0.815000	0.34398	0.306000	0.20318	CGG	-	superfamily_PDZ		0.667	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	protein_coding	OTTHUMT00000008490.1	G	NM_004421	-		1275822	-1	no_errors	ENST00000378888	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1275822	G	A	1275822	3	1	200	1	0	0	0	0	1	0	0	0	4837	1086	38	1	1385	1	DVL1	1	1275822	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		1275822	247974799	1	15801											
LRRC8D	55144	genome.wustl.edu	37	chr1	90399271	90399271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgacaaaagcgttgtctgAgacagcatgcgaagactcag	12	9	2	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr1:90399271A>G	ENST00000337338.5	+	3	1051	c.644A>G	c.(643-645)gAg>gGg	p.E215G	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E215G	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	215					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCGTTGTCTGAGACAGCATGC	0.428																																																	0								ENSG00000171492						61	61	61					1																	90399271		2203	4300	6503	LRRC8D	SO:0001583	missense	0			-	HGNC	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.644A>G	1.37:g.90399271A>G	ENSP00000338887:p.Glu215Gly	Somatic	0	37	0		0.589148871452117	60	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E215G	ENST00000337338.5	37	c.644	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761682	0.49468	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.54479	1.24;1.24;0.57	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.74647	2.275	0.80722	D	1	B	0.31859	0.343	B	0.39068	0.289	T	0.49916	-0.8888	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	215	Q7L1W4	LRC8D_HUMAN	G	215	ENSP00000338887:E215G;ENSP00000378093:E215G;ENSP00000405784:E215G	.	E	+	2	0	LRRC8D	90171859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAG	-	NULL		0.428	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	protein_coding	OTTHUMT00000029203.2	A	NM_018103	-		90399271	1	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	SNP	1.000	G	G	90399271	A	G	90399271	3	3	200	1	0	0	0	0	1	0	0	0	9026	304	11	5	646	5	LRRC8D	1	90399271	Missense_Mutation	SNP	A	TCGA-QQ-A5VA-01A-12D-A32I-09	89123449	90399271	158851350	2	15802											
HIST3H3	8290	genome.wustl.edu	37	chr1	228612940	228612940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgccagtggcaggtgcGctcttgcgagccaccttggt	14	14	1	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr1:228612940G>A	ENST00000366696.1	-	1	86	c.87C>T	c.(85-87)agC>agT	p.S29S		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	29					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)				TGGCAGGTGCGCTCTTGCGAG	0.657																																																	0								ENSG00000168148						33	39	36					1																	228612940		2203	4297	6500	HIST3H3	SO:0001819	synonymous_variant	0			-	HGNC	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.87C>T	1.37:g.228612940G>A		Somatic	0	35	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	B2R5K3|Q6FGU4	Silent	SNP							pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.S29	ENST00000366696.1	37	c.87	CCDS1572.1	1																																																																																			-	superfamily_Histone-fold,prints_Histone_H3		0.657	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H3	protein_coding	OTTHUMT00000096595.2	G	NM_003493	-		228612940	-1	no_errors	ENST00000366696	ensembl	human	known	74_37	silent	SNP	1.000	A	A	228612940	G	A	228612940	2	1	200	1	0	0	0	0	0	0	0	1	7186	1078	38	1		1	HIST3H3	1	228612940	Silent	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	138213669	228612940	20637681	3	15803											
OR2M3	127062	genome.wustl.edu	37	chr1	248367161	248367161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtacatacggcccacatcTgatcgctccccaacacagga	7	15	1	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr1:248367161T>C	ENST00000456743.1	+	1	830	c.792T>C	c.(790-792)tcT>tcC	p.S264S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	264						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)			GGCCCACATCTGATCGCTCCC	0.502																																																	0								ENSG00000228198						192	175	181					1																	248367161		2203	4300	6503	OR2M3	SO:0001819	synonymous_variant	0			-	HGNC		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.792T>C	1.37:g.248367161T>C		Somatic	0	35	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	78	32.76	B9EH06|Q6IEY0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264	ENST00000456743.1	37	c.792	CCDS31107.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	protein_coding	OTTHUMT00000097355.1	T	NM_001004689	-		248367161	1	no_errors	ENST00000456743	ensembl	human	known	74_37	silent	SNP	0.000	C	C	248367161	T	C	248367161	2	2	200	1	0	0	0	0	0	0	0	1	11013	1567	55	5		5	OR2M3	1	248367161	Silent	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09	19754221	248367161	883460	4	15804											
MYT1L	23040	genome.wustl.edu	37	chr2	1906955	1906955	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgttgtattcaaacgaggtCttggaatatttctcgagctc	9	8	3	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr2:1906955C>G	ENST00000399161.2	-	14	2676	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	MYT1L_ENST00000428368.2_Missense_Mutation_p.K641N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	643					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAAACGAGGTCTTGGAATATT	0.483																																																	0								ENSG00000186487						146	133	137					2																	1906955		1933	4137	6070	MYT1L	SO:0001583	missense	0			-	HGNC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1929G>C	2.37:g.1906955C>G	ENSP00000382114:p.Lys643Asn	Somatic	0	76	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.K643N	ENST00000399161.2	37	c.1929		2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418827	0.83559	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.59502	0.26;0.26	5.51	4.64	0.57946	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.59767	0.986;0.977	P;P	0.57204	0.815;0.647	T	0.78881	-0.2029	10	0.87932	D	0	-51.1505	14.589	0.68351	0.0:0.9295:0.0:0.0705	.	643;641	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	643;589;641	ENSP00000382114:K643N;ENSP00000396103:K641N	ENSP00000295067:K589N	K	-	3	2	MYT1L	1885962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	1.338000	0.45544	0.561000	0.74099	AAG	-	pfam_Myelin_TF		0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	C	NM_015025	-		1906955	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	SNP	1.000	G	G	1906955	C	G	1906955	3	3	200	1	0	0	0	0	1	0	0	0	10109	912	32	4	1679	4	MYT1L	2	1906955	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		1906955	241292418	5	15805											
SLC30A3	7781	genome.wustl.edu	37	chr2	27478187	27478188	+	Frame_Shift_Ins	INS	-	-	G													cagggccatggctcaggcttINSgggggggttcctggcagcgc					rs200706586	byFrequency	TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr2:27478187_27478188insG	ENST00000233535.4	-	8	1511_1512	c.1159_1160insC	c.(1159-1161)caafs	p.Q387fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q382fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	387					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCAGGCTTGGGGGGGTTCC	0.658																																																	0								ENSG00000115194																																			SLC30A3	SO:0001589	frameshift_variant	0				HGNC	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.1160dupC	2.37:g.27478194_27478194dupG	ENSP00000233535:p.Gln387fs	Somatic	0	47	0		0.589148871452117	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	Q8TC03	Frame_Shift_Ins	INS							pfam_Cation_efflux,tigrfam_Cation_efflux	p.Q387fs	ENST00000233535.4	37	c.1160_1159	CCDS1743.1	2																																																																																			-	NULL		0.658	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	protein_coding	OTTHUMT00000250189.2	-				27478188	-1	no_errors	ENST00000233535	ensembl	human	known	74_37	frame_shift_ins	INS	0.986:0.942	G	G	27478188	-	G	27478187	7	5	200	1	0	1	1	0	0	0	0	0	14564	1812	63	0	10	0	SLC30A3	2	27478187	Frame_Shift_Ins	INS	-	TCGA-QQ-A5VA-01A-12D-A32I-09	25571232	27478187	215721186	6	15806											
CAPN13	92291	genome.wustl.edu	37	chr2	30987032	30987032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggttatcagggagcctGccttggtcgctgtcttcact	11	12	3	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr2:30987032G>T	ENST00000295055.8	-	6	841	c.665C>A	c.(664-666)gCa>gAa	p.A222E	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.A222E	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	222	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAGGGAGCCTGCCTTGGTCGC	0.582																																																	0								ENSG00000162949						59	60	60					2																	30987032		2069	4198	6267	CAPN13	SO:0001583	missense	0			-	HGNC		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.665C>A	2.37:g.30987032G>T	ENSP00000295055:p.Ala222Glu	Somatic	0	48	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A222E	ENST00000295055.8	37	c.665	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968058	0.34754	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87029	-2.2;-2.2	5.44	1.2	0.21068	Peptidase C2, calpain, catalytic domain (3);	1.441260	0.04059	N	0.305996	D	0.83815	0.5336	L	0.39898	1.24	0.09310	N	1	B	0.19445	0.036	B	0.25291	0.059	T	0.68112	-0.5495	10	0.44086	T	0.13	.	10.3007	0.43650	0.0:0.1243:0.4903:0.3854	.	222	Q6MZZ7	CAN13_HUMAN	E	222	ENSP00000295055:A222E;ENSP00000431298:A222E	ENSP00000295055:A222E	A	-	2	0	CAPN13	30840536	0.002000	0.14202	0.003000	0.11579	0.020000	0.10135	1.171000	0.31896	0.208000	0.20626	-0.521000	0.04368	GCA	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.582	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	protein_coding	OTTHUMT00000325101.2	G	NM_144575	-		30987032	-1	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	SNP	0.001	T	T	30987032	G	T	30987032	3	4	200	1	0	0	0	0	1	0	0	0	2628	1319	46	3	1412	3	CAPN13	2	30987032	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	3508845	30987032	212212341	7	15807											
TIA1	7072	genome.wustl.edu	37	chr2	70443577	70443577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagtatacagtacagTtgcttggactagactgattt	8	9	0	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr2:70443577T>A	ENST00000433529.2	-	9	848	c.638A>T	c.(637-639)aAc>aTc	p.N213I	TIA1_ENST00000445587.1_Missense_Mutation_p.N202I|TIA1_ENST00000282574.4_Missense_Mutation_p.N213I|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Missense_Mutation_p.N202I|TIA1_ENST00000482876.1_5'UTR	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	213					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TACAGTACAGTTGCTTGGACT	0.363																																																	0								ENSG00000116001						120	110	113					2																	70443577		2203	4300	6503	TIA1	SO:0001583	missense	0			-	HGNC		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.638A>T	2.37:g.70443577T>A	ENSP00000401371:p.Asn213Ile	Somatic	0	42	0		0.589148871452117	182	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q53SS9	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.N213I	ENST00000433529.2	37	c.638	CCDS1901.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203751	0.79127	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587	T;T;T;T	0.74632	-0.86;-0.86;1.55;3.37	5.24	5.24	0.73138	Nucleotide-binding, alpha-beta plait (1);	0.116753	0.85682	D	0.000000	D	0.87763	0.6259	M	0.91872	3.25	0.80722	D	1	D;D	0.69078	0.99;0.997	P;D	0.64410	0.847;0.925	D	0.90494	0.4469	10	0.87932	D	0	-6.8603	14.0926	0.65000	0.0:0.0:0.0:1.0	.	202;213	P31483-2;P31483	.;TIA1_HUMAN	I	213;202;291;213;202	ENSP00000401371:N213I;ENSP00000404023:N202I;ENSP00000282574:N213I;ENSP00000399567:N202I	ENSP00000282574:N213I	N	-	2	0	TIA1	70297081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.836000	0.86788	2.199000	0.70637	0.533000	0.62120	AAC	-	NULL		0.363	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	protein_coding	OTTHUMT00000251842.2	T	NM_022037	-		70443577	-1	no_errors	ENST00000433529	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70443577	T	A	70443577	3	1	200	1	0	0	0	0	1	0	0	0	15894	1725	60	5	542	5	TIA1	2	70443577	Missense_Mutation	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09	39456545	70443577	172755796	8	15808											
IL1RN	3557	genome.wustl.edu	37	chr2	113890420	113890420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacgaaggcgtcatggtcaCcaaattctacttccaggagg	11	10	3	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr2:113890420C>A	ENST00000409930.3	+	4	570	c.506C>A	c.(505-507)aCc>aAc	p.T169N	IL1RN_ENST00000354115.2_Missense_Mutation_p.T151N|IL1RN_ENST00000259206.5_Missense_Mutation_p.T172N|IL1RN_ENST00000361779.3_Missense_Mutation_p.T135N|IL1RN_ENST00000409052.1_Missense_Mutation_p.T135N	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	169					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	GTCATGGTCACCAAATTCTAC	0.597									Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0								ENSG00000136689						111	95	101					2																	113890420		2203	4300	6503	IL1RN	SO:0001583	missense	0	Familial Cancer Database	Lichen Sclerosis, Familial	-	HGNC	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.506C>A	2.37:g.113890420C>A	ENSP00000387173:p.Thr169Asn	Somatic	0	36	0		0.589148871452117	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP							pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.T172N	ENST00000409930.3	37	c.515	CCDS46396.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986330	0.74589	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.8	5.8	0.92144	.	0.629307	0.17384	N	0.176190	T	0.57592	0.2064	M	0.92317	3.295	0.40835	D	0.983623	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.998;0.998	T	0.66344	-0.5947	10	0.87932	D	0	-19.1731	15.561	0.76244	0.0:1.0:0.0:0.0	.	169;151;172	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	N	135;135;172;151;169	ENSP00000387210:T135N;ENSP00000354816:T135N;ENSP00000259206:T172N;ENSP00000329072:T151N;ENSP00000387173:T169N	ENSP00000259206:T172N	T	+	2	0	IL1RN	113606891	0.997000	0.39634	1.000000	0.80357	0.648000	0.38561	3.891000	0.56227	2.755000	0.94549	0.655000	0.94253	ACC	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36		0.597	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL1RN	protein_coding	OTTHUMT00000330802.1	C	NM_173841	-		113890420	1	no_errors	ENST00000259206	ensembl	human	known	74_37	missense	SNP	1.000	A	A	113890420	C	A	113890420	3	1	200	1	0	0	0	0	1	0	0	0	7667	507	18	3	601	3	IL1RN	2	113890420	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	43446843	113890420	129308953	9	15809											
TTN	7273	genome.wustl.edu	37	chr2	179439275	179439275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgttcttttctttcaacatGatatcctaaaatggggcttc	6	9	3	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr2:179439275G>A	ENST00000591111.1	-	276	66885	c.66661C>T	c.(66661-66663)Cat>Tat	p.H22221Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H23862Y|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H21294Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H14989Y|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14922Y|TTN_ENST00000460472.2_Missense_Mutation_p.H14797Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22221	Fibronectin type-III 61. {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)			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)			CTTTCAACATGATATCCTAAA	0.428																																																	0								ENSG00000155657						135	131	132					2																	179439275		1889	4119	6008	TTN	SO:0001583	missense	0			-	HGNC	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.66661C>T	2.37:g.179439275G>A	ENSP00000465570:p.His22221Tyr	Somatic	0	15	0		0.589148871452117	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H21294Y	ENST00000591111.1	37	c.63880		2	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142354	0.37825	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64962	0.2646	L	0.28649	0.875	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	0.67373	-0.5687	9	0.87932	D	0	.	19.8266	0.96619	0.0:0.0:1.0:0.0	.	14797;14922;14989;22221	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	21294;14797;14989;14922;14795	ENSP00000343764:H21294Y;ENSP00000434586:H14797Y;ENSP00000340554:H14989Y;ENSP00000352154:H14922Y	ENSP00000340554:H14989Y	H	-	1	0	TTN	179147521	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	6.782000	0.75073	2.699000	0.92147	0.650000	0.86243	CAT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179439275	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A	A	179439275	G	A	179439275	3	1	200	1	0	0	0	0	1	0	0	0	16742	1290	45	2	36543	2	TTN	2	179439275	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	65548855	179439275	63760098	10	15810											
GRM7	2917	genome.wustl.edu	37	chr3	7494313	7494313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggagagaattggaaaAgattccaactatgagcagga	13	5	0	3			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr3:7494313A>T	ENST00000357716.4	+	6	1468	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.K398N|GRM7_ENST00000402647.2_Missense_Mutation_p.K398N|GRM7_ENST00000389336.4_Missense_Mutation_p.K398N|GRM7_ENST00000486284.1_Missense_Mutation_p.K398N	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	398					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						GAATTGGAAAAGATTCCAACT	0.433																																																	0								ENSG00000196277						113	101	105					3																	7494313		2203	4300	6503	GRM7	SO:0001583	missense	0			-	HGNC	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.1194A>T	3.37:g.7494313A>T	ENSP00000350348:p.Lys398Asn	Somatic	0	26	0		0.589148871452117	11	21.43	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	87	16.35	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.K398N	ENST00000357716.4	37	c.1194	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	A	13.39	2.224111	0.39300	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.88	-1.38	0.09027	Extracellular ligand-binding receptor (1);	0.275476	0.39544	N	0.001328	T	0.77198	0.4095	L	0.52126	1.63	0.38176	D	0.939468	B;B;B	0.23128	0.065;0.08;0.056	B;B;B	0.34779	0.035;0.059;0.189	T	0.64989	-0.6277	10	0.19147	T	0.46	.	11.7718	0.51962	0.4081:0.0:0.5919:0.0	.	398;398;398	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	N	398;398;398;398;398;398;398;55	ENSP00000350348:K398N;ENSP00000417536:K398N;ENSP00000373987:K398N;ENSP00000385664:K398N;ENSP00000384585:K398N;ENSP00000395035:K55N	ENSP00000350348:K398N	K	+	3	2	GRM7	7469313	0.205000	0.23458	0.965000	0.40720	0.978000	0.69477	0.261000	0.18442	-0.112000	0.11979	-0.408000	0.06270	AAA	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	protein_coding	OTTHUMT00000246895.3	A	NM_000844	-		7494313	1	no_errors	ENST00000402647	ensembl	human	known	74_37	missense	SNP	0.833	T	T	7494313	A	T	7494313	3	4	200	1	0	0	0	0	1	0	0	0	6804	69	3	5	1216	5	GRM7	3	7494313	Missense_Mutation	SNP	A	TCGA-QQ-A5VA-01A-12D-A32I-09		7494313	190528117	11	15811											
HEMK1	51409	genome.wustl.edu	37	chr3	50609193	50609193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgacctctcagcaacTacagtgtatccgggagctga	10	13	1	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr3:50609193T>C	ENST00000232854.4	+	3	833	c.281T>C	c.(280-282)cTa>cCa	p.L94P	HEMK1_ENST00000455834.1_Missense_Mutation_p.L94P|HEMK1_ENST00000434410.1_Missense_Mutation_p.L94P|C3orf18_ENST00000449241.1_5'Flank	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	94					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TCTCAGCAACTACAGTGTATC	0.587											OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000114735						121	125	124					3																	50609193		2203	4300	6503	HEMK1	SO:0001583	missense	0			-	HGNC	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.281T>C	3.37:g.50609193T>C	ENSP00000232854:p.Leu94Pro	Somatic	0	101	0	971	0.589148871452117	79	23.3	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98		Missense_Mutation	SNP							pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	p.L94P	ENST00000232854.4	37	c.281	CCDS2830.1	3	.	.	.	.	.	.	.	.	.	.	t	9.868	1.198123	0.22037	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.14893	2.47;2.47;2.47	5.53	4.3	0.51218	.	0.422579	0.21670	N	0.070897	T	0.13457	0.0326	L	0.41079	1.255	0.24368	N	0.994847	B	0.34181	0.44	B	0.32677	0.15	T	0.13202	-1.0518	10	0.35671	T	0.21	-5.6093	9.1693	0.37072	0.1622:0.0:0.0:0.8378	.	94	Q9Y5R4	HEMK1_HUMAN	P	94	ENSP00000404843:L94P;ENSP00000232854:L94P;ENSP00000404334:L94P	ENSP00000232854:L94P	L	+	2	0	HEMK1	50584197	0.005000	0.15991	0.184000	0.23157	0.298000	0.27526	1.439000	0.35013	2.240000	0.73641	0.529000	0.55759	CTA	-	tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK		0.587	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEMK1	protein_coding	OTTHUMT00000346231.1	T	NM_016173	-		50609193	1	no_errors	ENST00000232854	ensembl	human	known	74_37	missense	SNP	0.117	C	C	50609193	T	C	50609193	3	2	200	1	0	0	0	0	1	0	0	0	7053	1522	53	5	287	5	HEMK1	3	50609193	Missense_Mutation	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09	43114880	50609193	147413237	12	15812											
UBA3	9039	genome.wustl.edu	37	chr3	69105348	69105348	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acttacagagaagcactattGgttagataatccaaaacctc	6	9	0	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr3:69105348G>C	ENST00000361055.4	-	15	1224	c.1170C>G	c.(1168-1170)acC>acG	p.T390T	UBA3_ENST00000540295.1_Silent_p.T213T|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000415609.2_Silent_p.T349T|UBA3_ENST00000349511.4_Silent_p.T376T	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	390	Interaction with UBE2M core domain.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGCACTATTGGTTAGATAAT	0.299																																																	0								ENSG00000144744						58	58	58					3																	69105348		2203	4299	6502	UBA3	SO:0001819	synonymous_variant	0			-	HGNC	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"Ubiquitin-like modifier activating enzymes"	12470	protein-coding gene	gene with protein product	"NEDD8-activating enzyme E1 catalytic subunit", "NEDD8-activating enzyme E1 subunit 2"	603172	"ubiquitin-activating enzyme E1C (homologous to yeast UBA3)", "ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1170C>G	3.37:g.69105348G>C		Somatic	0	68	0		0.589148871452117	106	17.83	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	A6NLB5|A8K027|O76088|Q9NTU3	Silent	SNP							pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.T390	ENST00000361055.4	37	c.1170	CCDS2909.1	3																																																																																			-	pfam_E2_binding,superfamily_Molybdenum_cofac_synth_MoeB		0.299	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA3	protein_coding	OTTHUMT00000334839.1	G	NM_198195	-		69105348	-1	no_errors	ENST00000361055	ensembl	human	known	74_37	silent	SNP	0.998	C	C	69105348	G	C	69105348	2	2	200	1	0	0	0	0	0	0	0	1	16836	1335	47	4		4	UBA3	3	69105348	Silent	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	18496155	69105348	128917082	13	15813											
EPHA6	285220	genome.wustl.edu	37	chr3	97439140	97439140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtggacagccccagaAgccatcgcctacagaaaatt	9	11	0	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr3:97439140A>G	ENST00000389672.5	+	15	2858	c.2820A>G	c.(2818-2820)gaA>gaG	p.E940E		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGCCCCAGAAGCCATCGCCT	0.443																																																	0								ENSG00000080224						76	80	79					3																	97439140		2014	4230	6244	EPHA6	SO:0001819	synonymous_variant	0			-	HGNC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2820A>G	3.37:g.97439140A>G		Somatic	0	104	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	98	21.60	D6RAL5	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E940	ENST00000389672.5	37	c.2820	CCDS46876.1	3																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	protein_coding	OTTHUMT00000353845.3	A	NM_001080448	-		97439140	1	no_errors	ENST00000389672	ensembl	human	known	74_37	silent	SNP	1.000	G	G	97439140	A	G	97439140	2	3	200	1	0	0	0	0	0	0	0	1	5173	69	3	5		5	EPHA6	3	97439140	Silent	SNP	A	TCGA-QQ-A5VA-01A-12D-A32I-09	28333792	97439140	100583290	14	15814											
IGF2BP2	10644	genome.wustl.edu	37	chr3	185414435	185414435	+	Frame_Shift_Del	DEL	A	A	-													ccactgtcccatattgagccAaaagtccatccaacacctaa							TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr3:185414435delA	ENST00000382199.2	-	4	400	c.305delT	c.(304-306)ttgfs	p.L102fs	IGF2BP2_ENST00000457616.2_Frame_Shift_Del_p.L102fs|IGF2BP2_ENST00000421047.2_Frame_Shift_Del_p.L39fs|IGF2BP2_ENST00000346192.3_Frame_Shift_Del_p.L102fs	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	102	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATATTGAGCCAAAAGTCCATC	0.383																																																	0								ENSG00000073792						123	114	117					3																	185414435		2203	4300	6503	IGF2BP2	SO:0001589	frameshift_variant	0				HGNC	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.305delT	3.37:g.185414435delA	ENSP00000371634:p.Leu102fs	Somatic	0	19	0		0.589148871452117	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Frame_Shift_Del	DEL							pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.L102fs	ENST00000382199.2	37	c.305	CCDS3273.2	3																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.383	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	protein_coding	OTTHUMT00000157087.2	A	NM_006548			185414435	-1	no_errors	ENST00000382199	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	185414435	A	-	185414435	7	5	200	1	0	1	0	1	0	0	0	0	7576	131	5	0	1546	0	IGF2BP2	3	185414435	Frame_Shift_Del	DEL	A	TCGA-QQ-A5VA-01A-12D-A32I-09	87975295	185414435	12607995	15	15815											
ZFYVE28	57732	genome.wustl.edu	37	chr4	2321944	2321944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggaacagctcggacatGtcttccaccttgcggtccaa	11	14	1	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:2321944G>A	ENST00000290974.2	-	7	1095	c.756C>T	c.(754-756)gaC>gaT	p.D252D	ZFYVE28_ENST00000511071.1_Silent_p.D222D|ZFYVE28_ENST00000515312.1_Silent_p.D182D|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	252					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCTCGGACATGTCTTCCACCT	0.612																																																	0								ENSG00000159733						117	102	107					4																	2321944		2203	4300	6503	ZFYVE28	SO:0001819	synonymous_variant	0			-	HGNC	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.756C>T	4.37:g.2321944G>A		Somatic	0	158	0		0.589148871452117	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	125	14.97	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.D252	ENST00000290974.2	37	c.756	CCDS33942.1	4																																																																																			-	NULL		0.612	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	protein_coding	OTTHUMT00000360078.1	G	XM_035371	-		2321944	-1	no_errors	ENST00000290974	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2321944	G	A	2321944	2	1	200	1	0	0	0	0	0	0	0	1	17677	1368	48	2		2	ZFYVE28	4	2321944	Silent	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		2321944	188832332	16	15816											
HTT	3064	genome.wustl.edu	37	chr4	3225176	3225176	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacgtcctggccgtgcaggCcatcacctcactggtgctca	10	16	3	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:3225176C>G	ENST00000355072.5	+	55	7659	c.7514C>G	c.(7513-7515)gCc>gGc	p.A2505G		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2505					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCGTGCAGGCCATCACCTCA	0.587																																																	0								ENSG00000197386						71	76	75					4																	3225176		2087	4221	6308	HTT	SO:0001583	missense	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7514C>G	4.37:g.3225176C>G	ENSP00000347184:p.Ala2505Gly	Somatic	0	54	0		0.589148871452117	57	22.97	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	57	14.93	Q9UQB7	Missense_Mutation	SNP							pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A2505G	ENST00000355072.5	37	c.7514	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175515	0.78564	.	.	ENSG00000197386	ENST00000355072	T	0.06294	3.32	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.08868	-1.0701	10	0.24483	T	0.36	.	18.3988	0.90509	0.0:1.0:0.0:0.0	.	2505	P42858	HD_HUMAN	G	2505	ENSP00000347184:A2505G	ENSP00000347184:A2505G	A	+	2	0	HTT	3194974	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.445000	0.80570	2.400000	0.81607	0.591000	0.81541	GCC	-	NULL		0.587	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	C	NM_002111	-		3225176	1	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	SNP	1.000	G	G	3225176	C	G	3225176	3	3	200	1	0	0	0	0	1	0	0	0	7459	739	26	4	7732	4	HTT	4	3225176	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	903232	3225176	187929100	17	15817											
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68784778	68784778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcaaacaaatctggcGtatgtcatccgaaaaggtga	10	8	3	1	rs572842431		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:68784778G>A	ENST00000334830.7	-	8	1620	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R289C|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.R288C|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	292	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R292C(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CAAATCTGGCGTATGTCATCC	0.463													G|||	1	0.000199681	0	0	5008	,	,		17741	0.001		0	False		,,,				2504	0				NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	prostate(1)						ENSG00000187054						155	158	157					4																	68784778		2203	4300	6503	TMPRSS11A	SO:0001583	missense	0			-	HGNC	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.874C>T	4.37:g.68784778G>A	ENSP00000334611:p.Arg292Cys	Somatic	0	54	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R292C	ENST00000334830.7	37	c.874	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097778	0.37048	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000023	D	0.95098	0.8412	M	0.86740	2.835	0.19300	N	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.89808	0.3980	10	0.87932	D	0	.	16.5682	0.84604	0.0:0.0:1.0:0.0	.	289;292	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	C	288;292;289;256	ENSP00000426911:R288C;ENSP00000334611:R292C;ENSP00000379491:R289C;ENSP00000427621:R256C	ENSP00000334611:R292C	R	-	1	0	TMPRSS11A	68467373	0.968000	0.33430	0.013000	0.15412	0.126000	0.20510	5.358000	0.66064	2.512000	0.84698	0.591000	0.81541	CGC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1		0.463	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	protein_coding	OTTHUMT00000251433.3	G	NM_182606	rs141574463		68784778	-1	no_errors	ENST00000334830	ensembl	human	known	74_37	missense	SNP	0.044	A	A	68784778	G	A	68784778	3	1	200	1	0	0	0	0	1	0	0	0	16246	1145	40	1	403	1	TMPRSS11A	4	68784778	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	65559602	68784778	122369498	18	15818											
HTN3	3347	genome.wustl.edu	37	chr4	70897717	70897717	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgattcacatgcaaagGtaagacattttcatttactg	8	7	2	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:70897717G>T	ENST00000530128.1	+	3	147		c.e3+1		HTN3_ENST00000526767.1_Splice_Site|HTN3_ENST00000381057.3_Splice_Site			P15516	HIS3_HUMAN	histatin 3						biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						ACATGCAAAGGTAAGACATTT	0.249																																																	0								ENSG00000205649						47	49	48					4																	70897717		2168	4256	6424	HTN3	SO:0001630	splice_region_variant	0			-	HGNC		CCDS33999.1	4q13	2008-08-29							5284	protein-coding gene	gene with protein product		142702					Standard	NM_000200		Approved	HIS2	uc003hew.2	P15516		ENST00000530128.1:c.72+1G>T	4.37:g.70897717G>T		Somatic	0	83	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	72	10.00	Q16243|Q502Z1	Splice_Site	SNP							-	e2+1	ENST00000530128.1	37	c.72+1	CCDS33999.1	4	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851601	0.17034	.	.	ENSG00000205649	ENST00000526767;ENST00000530128;ENST00000381057	.	.	.	2.77	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8055	0.18438	0.1532:0.0:0.8468:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTN3	70932306	0.988000	0.35896	0.948000	0.38648	0.060000	0.15804	1.175000	0.31944	0.742000	0.32697	0.505000	0.49811	.	-	-		0.249	HTN3-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	HTN3	protein_coding	OTTHUMT00000387375.1	G	NM_000200	-	Intron	70897717	1	no_errors	ENST00000526767	ensembl	human	known	74_37	splice_site	SNP	0.964	T	T	70897717	G	T	70897717	5	4	200	1	0	0	0	0	0	0	1	0	7437	1275	44	3	79	3	HTN3	4	70897717	Splice_Site	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	2112939	70897717	120256559	19	15819											
MAPK10	5602	genome.wustl.edu	37	chr4	87023109	87023109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatttggtacagcaggtAagacattcgctcatggtcta	9	9	2	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:87023109A>G	ENST00000359221.3	-	7	1028	c.502T>C	c.(502-504)Tac>Cac	p.Y168H	MAPK10_ENST00000395161.2_Missense_Mutation_p.Y168H|MAPK10_ENST00000395160.3_Missense_Mutation_p.Y23H|MAPK10_ENST00000395166.1_Missense_Mutation_p.Y130H|MAPK10_ENST00000449047.2_Missense_Mutation_p.Y23H|MAPK10_ENST00000361569.2_Missense_Mutation_p.Y168H|MAPK10_ENST00000395157.3_Missense_Mutation_p.Y23H|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.Y130H			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TACAGCAGGTAAGACATTCGC	0.403																																																	0								ENSG00000109339						261	243	249					4																	87023109		2203	4300	6503	MAPK10	SO:0001583	missense	0			-	HGNC	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.502T>C	4.37:g.87023109A>G	ENSP00000352157:p.Tyr168His	Somatic	0	20	0		0.589148871452117	2	88.24	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	35	48.53	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.Y168H	ENST00000359221.3	37	c.502	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.066348|5.066348	0.93898|0.93898	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|T;T;T;T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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|T	0.73194|0.73194	0.3556|0.3556	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|0.998;1.0;0.994;0.994;0.997	T|T	0.75701|0.75701	-0.3226|-0.3226	5|10	.|0.87932	.|D	.|0	-16.476|-16.476	16.4127|16.4127	0.83723|0.83723	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|54;23;130;168;168	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	S|H	80|130;168;23;168;130;23;23;168	.|ENSP00000378598:Y130H;ENSP00000352157:Y168H;ENSP00000378586:Y23H;ENSP00000355297:Y168H;ENSP00000378595:Y130H;ENSP00000378589:Y23H;ENSP00000414469:Y23H;ENSP00000378590:Y168H	.|ENSP00000352157:Y168H	L|Y	-|-	2|1	0|0	MAPK10|MAPK10	87242133|87242133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.231000|9.231000	0.95317|0.95317	2.279000|2.279000	0.76181|0.76181	0.528000|0.528000	0.53228|0.53228	TTA|TAC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.403	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	protein_coding	OTTHUMT00000361363.2	A		-		87023109	-1	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	SNP	1.000	G	G	87023109	A	G	87023109	3	3	200	1	0	0	0	0	1	0	0	0	9274	362	13	5	929	5	MAPK10	4	87023109	Missense_Mutation	SNP	A	TCGA-QQ-A5VA-01A-12D-A32I-09	16125392	87023109	104131167	20	15820											
SCOC	60592	genome.wustl.edu	37	chr4	141302168	141302188	+	In_Frame_Del	DEL	AGAAAACCAAGTTCTTGGACA	AGAAAACCAAGTTCTTGGACA	-													gaaaatctgaagctaaaatcAgaaaaccaagttcttggaca							TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	AGAAAACCAAGTTCTTGGACA	AGAAAACCAAGTTCTTGGACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:141302168_141302188delAGAAAACCAAGTTCTTGGACA	ENST00000608372.1	+	4	417_437	c.390_410delAGAAAACCAAGTTCTTGGACA	c.(388-411)tcagaaaaccaagttcttggacaa>tca	p.ENQVLGQ131del	SCOC_ENST00000394201.4_In_Frame_Del_p.ENQVLGQ54del|SCOC_ENST00000338517.4_In_Frame_Del_p.ENQVLGQ94del|SCOC_ENST00000506322.1_In_Frame_Del_p.ENQVLGQ54del|SCOC_ENST00000394205.3_In_Frame_Del_p.ENQVLGQ94del|SCOC_ENST00000510586.1_In_Frame_Del_p.ENQVLGQ54del|SCOC_ENST00000394203.3_In_Frame_Del_p.ENQVLGQ94del|SCOC_ENST00000512749.1_In_Frame_Del_p.ENQVLGQ54del|SCOC_ENST00000506597.1_In_Frame_Del_p.ENQVLGQ103del|SCOC_ENST00000502535.1_In_Frame_Del_p.ENQVLGQ54del			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	131					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AGCTAAAATCAGAAAACCAAGTTCTTGGACAATATATAGAA	0.312																																																	0								ENSG00000153130																																			SCOC	SO:0001651	inframe_deletion	0				HGNC	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.390_410delAGAAAACCAAGTTCTTGGACA	4.37:g.141302168_141302188delAGAAAACCAAGTTCTTGGACA	ENSP00000477352:p.Glu131_Gln137del	Somatic					0.589148871452117	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	In_Frame_Del	DEL							pfam_DUF2205_coiled-coil	p.ENQVLGQ131in_frame_del	ENST00000608372.1	37	c.390_410	CCDS54806.1	4																																																																																			-	pfam_DUF2205_coiled-coil		0.312	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	protein_coding	OTTHUMT00000257274.2	AGAAAACCAAGTTCTTGGACA				141302188	1	no_errors	ENST00000608372	ensembl	human	known	74_37	in_frame_del	DEL	0.984:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.999:1.000:1.000	-	-	141302188	AGAAAACCAAGTTCTTGGACA	-	141302168	7	5	200	1	0	1	0	1	0	0	0	0	13941	175	7	0	478	0	SCOC	4	141302168	In_Frame_Del	DEL	AGAAAACCAAGTTCTTGGACA	TCGA-QQ-A5VA-01A-12D-A32I-09	54279059	141302168	49852108	21	15821											
CCDC110	256309	genome.wustl.edu	37	chr4	186379436	186379436	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaaacttaaatattctcGttgaagatgccgcatctcaa	5	9	2	2	rs199552759		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr4:186379436G>A	ENST00000307588.3	-	6	2380	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.R732*|CCDC110_ENST00000510617.1_Nonsense_Mutation_p.R769*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	769						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAATATTCTCGTTGAAGATGC	0.308													G|||	1	0.000199681	0	0	5008	,	,		17760	0		0.001	False		,,,				2504	0																0								ENSG00000168491						66	65	65					4																	186379436		2202	4300	6502	CCDC110	SO:0001587	stop_gained	0			GMAF=0.0005	HGNC	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2305C>T	4.37:g.186379436G>A	ENSP00000306776:p.Arg769*	Somatic	0	28	0		0.589148871452117	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	Q86YI9|Q8N7W0	Nonsense_Mutation	SNP							superfamily_4_helix_cytokine-like_core	p.R769*	ENST00000307588.3	37	c.2305	CCDS3843.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	38	7.250614	0.98164	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	.	.	.	5.54	3.54	0.40534	.	0.136921	0.32655	N	0.005804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1587	11.4987	0.50424	0.0:0.0:0.3859:0.6141	.	.	.	.	X	732;769;769	.	ENSP00000306776:R769X	R	-	1	2	CCDC110	186616430	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.984000	0.29565	1.326000	0.45319	0.650000	0.86243	CGA	-	superfamily_4_helix_cytokine-like_core		0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	protein_coding	OTTHUMT00000360519.2	G	NM_152775	rs199552759		186379436	-1	no_errors	ENST00000307588	ensembl	human	known	74_37	nonsense	SNP	0.993	A	A	186379436	G	A	186379436	4	1	200	1	0	0	0	0	0	1	0	0	2749	1153	40	1	204	1	CCDC110	4	186379436	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	45077268	186379436	4774840	22	15822											
COL4A3BP	10087	genome.wustl.edu	37	chr5	74722305	74722306	+	Splice_Site	INS	-	-	A													tccatatccagattcagtctINSaaaaaaaaaagtaaactatg					rs540751366	byFrequency	TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr5:74722305_74722306insA	ENST00000405807.4	-	4	770		c.e4-2		COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000380494.5_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AGATTCAGTCTAAAAAAAAAAG	0.366																																																	0								ENSG00000113163																																			COL4A3BP	SO:0001630	splice_region_variant	0				HGNC	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.349-2->T	5.37:g.74722315_74722315dupA		Somatic	0	21	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	INS							-	e5-2	ENST00000405807.4	37	c.733-3_733-2	CCDS4028.1	5																																																																																			-	-		0.366	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	protein_coding	OTTHUMT00000219875.2	-	NM_005713		Intron	74722306	-1	no_errors	ENST00000380494	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.996	A	A	74722306	-	A	74722305	8	5	200	1	0	1	1	0	0	0	1	0	3694	1536	53	0	1583	0	COL4A3BP	5	74722305	Splice_Site	INS	-	TCGA-QQ-A5VA-01A-12D-A32I-09		74722305	106192955	23	15823											
MEF2C	4208	genome.wustl.edu	37	chr5	88025139	88025139	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggtagccaatgactgagccGactgggagttatttatcctt	12	8	0	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr5:88025139G>T	ENST00000437473.2	-	9	1277	c.860C>A	c.(859-861)tCg>tAg	p.S287*	MEF2C_ENST00000510942.1_Nonsense_Mutation_p.S279*|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.S287*|MEF2C_ENST00000539796.1_Nonsense_Mutation_p.S231*|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000506554.1_Nonsense_Mutation_p.S287*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.S297*|MEF2C_ENST00000504921.2_Nonsense_Mutation_p.S287*|MEF2C_ENST00000508569.1_Nonsense_Mutation_p.S279*|MEF2C_ENST00000424173.2_Nonsense_Mutation_p.S277*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.S287*	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	287					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGACTGAGCCGACTGGGAGTT	0.338										HNSCC(66;0.2)																																							0								ENSG00000081189						59	65	63					5																	88025139		1816	4079	5895	MEF2C	SO:0001587	stop_gained	0			-	HGNC	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.860C>A	5.37:g.88025139G>T	ENSP00000396219:p.Ser287*	Somatic	0	22	0		0.589148871452117	34	5.56	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	C9JMZ0|D7F7N5|F8W7V7	Nonsense_Mutation	SNP							pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.S287*	ENST00000437473.2	37	c.860	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	43	10.398393	0.99398	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9202	20.0919	0.97823	0.0:0.0:1.0:0.0	.	.	.	.	X	297;277;287;287;287;279;287;279;287;231	.	ENSP00000340874:S297X	S	-	2	0	MEF2C	88060895	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.379000	0.97198	2.810000	0.96702	0.650000	0.86243	TCG	-	NULL		0.338	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	protein_coding	OTTHUMT00000369817.1	G	NM_002397	-		88025139	-1	no_errors	ENST00000437473	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	88025139	G	T	88025139	4	4	200	1	0	0	0	0	0	1	0	0	9459	1059	37	3	573	3	MEF2C	5	88025139	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	13302834	88025139	92890121	24	15824											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595444	140595444	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggcggccgagccgggCtacctggtgaccaaggtggt	17	14	0	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr5:140595444C>A	ENST00000341948.4	+	1	1936	c.1749C>A	c.(1747-1749)ggC>ggA	p.G583G		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	583	Cadherin 6. {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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGCCGGGCTACCTGGTGA	0.701																																																	0								ENSG00000187372						7	11	10					5																	140595444		1696	3538	5234	PCDHB13	SO:0001819	synonymous_variant	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1749C>A	5.37:g.140595444C>A		Somatic	0	82	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	A8K9V6	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G583	ENST00000341948.4	37	c.1749	CCDS4255.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	C	NM_018933	-		140595444	1	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	SNP	0.997	A	A	140595444	C	A	140595444	2	1	200	1	0	0	0	0	0	0	0	1	11540	784	28	3		3	PCDHB13	5	140595444	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	52570305	140595444	40319816	25	15825											
FLT4	2324	genome.wustl.edu	37	chr5	180047941	180047941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacacgctgcacagatagCgtcccgcatcctcctcgcgc	9	18	0	1	rs184409663		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr5:180047941C>T	ENST00000261937.6	-	15	2312	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	FLT4_ENST00000393347.3_Missense_Mutation_p.R745H|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.R745H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	745	Ig-like C2-type 7.			R -> P (in Ref. 3; CAA49505 and 7; AAO89504/AAO89505). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|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)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCACAGATAGCGTCCCGCATC	0.667													C|||	1	0.000199681	0	0	5008	,	,		17746	0.001		0	False		,,,				2504	0				Colon(97;1075 1466 27033 27547 35871)												0								ENSG00000037280						33	31	32					5																	180047941		2201	4300	6501	FLT4	SO:0001583	missense	0			GMAF=0.0005	HGNC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2234G>A	5.37:g.180047941C>T	ENSP00000261937:p.Arg745His	Somatic	0	58	0		0.589148871452117	88	1.12	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.R745H	ENST00000261937.6	37	c.2234	CCDS4457.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.36	1.914504	0.33815	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.67698	-0.28;-0.28;-0.28	4.72	0.91	0.19337	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	L	0.35644	1.08	0.26137	N	0.980337	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.004;0.005;0.005	T	0.35649	-0.9780	9	0.33940	T	0.23	.	4.4212	0.11481	0.2267:0.4451:0.0:0.3281	.	555;745;745	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	H	745;745;745;555	ENSP00000261937:R745H;ENSP00000377016:R745H;ENSP00000426057:R745H	ENSP00000261937:R745H	R	-	2	0	FLT4	179980547	1.000000	0.71417	0.201000	0.23476	0.512000	0.34134	2.029000	0.41098	-0.050000	0.13356	-0.463000	0.05309	CGC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	C		rs184409663		180047941	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	SNP	0.619	T	T	180047941	C	T	180047941	3	4	200	1	0	0	0	0	1	0	0	0	5946	768	27	1	1929	1	FLT4	5	180047941	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	39452497	180047941	867319	26	15826											
DNAH8	1769	genome.wustl.edu	37	chr6	38980307	38980307	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgggattcgtccacactGggcttctggttcactgaact	10	11	3	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr6:38980307G>T	ENST00000359357.3	+	89	13211	c.12957G>T	c.(12955-12957)ctG>ctT	p.L4319L	DNAH8_ENST00000441566.1_Silent_p.L4283L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4319					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGTCCACACTGGGCTTCTGGT	0.423																																																	0								ENSG00000124721						185	173	177					6																	38980307		2203	4300	6503	DNAH8	SO:0001819	synonymous_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12957G>T	6.37:g.38980307G>T		Somatic	0	29	0		0.589148871452117	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L4319	ENST00000359357.3	37	c.12957		6																																																																																			-	pfam_Dynein_heavy_dom		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38980307	1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	SNP	1.000	T	T	38980307	G	T	38980307	2	4	200	1	0	0	0	0	0	0	0	1	4609	1335	47	3		3	DNAH8	6	38980307	Silent	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		38980307	132134760	27	15827											
TAAR2	9287	genome.wustl.edu	37	chr6	132945357	132945357	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatgtttaagggcctacctTttttgtctgtgttcttttga	8	6	2	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr6:132945357T>A	ENST00000367931.1	-	1	57	c.58A>T	c.(58-60)Aag>Tag	p.K20*	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	20					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GGGCCTACCTTTTTTGTCTGT	0.358																																																	0								ENSG00000146378						170	144	153					6																	132945357		2203	4300	6503	TAAR2	SO:0001587	stop_gained	0			-	HGNC	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.58A>T	6.37:g.132945357T>A	ENSP00000356908:p.Lys20*	Somatic	0	17	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.K20*	ENST00000367931.1	37	c.58	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414021	0.83449	.	.	ENSG00000146378	ENST00000367931	.	.	.	3.68	1.24	0.21308	.	1.673320	0.03330	N	0.193167	.	.	.	.	.	.	0.22762	N	0.998765	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-2.8966	3.6679	0.08262	0.0:0.1243:0.2424:0.6333	.	.	.	.	X	20	.	ENSP00000356908:K20X	K	-	1	0	TAAR2	132987050	0.001000	0.12720	0.002000	0.10522	0.449000	0.32228	-0.205000	0.09411	0.266000	0.21894	0.528000	0.53228	AAG	-	NULL		0.358	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	protein_coding	OTTHUMT00000390735.1	T	NM_014626	-		132945357	-1	no_errors	ENST00000367931	ensembl	human	known	74_37	nonsense	SNP	0.003	A	A	132945357	T	A	132945357	4	1	200	1	0	0	0	0	0	1	0	0	15497	1850	64	5	1005	5	TAAR2	6	132945357	Nonsense_Mutation	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09	93965050	132945357	38169710	28	15828											
MUC17	140453	genome.wustl.edu	37	chr7	100680100	100680100	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtaccagcataccaacctcGactcttagtgaaggaatgac	9	11	1	2	rs142682652	byFrequency	TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr7:100680100G>A	ENST00000306151.4	+	3	5467	c.5403G>A	c.(5401-5403)tcG>tcA	p.S1801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	59 X approximate tandem repeats.|Ser-rich.				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)					TACCAACCTCGACTCTTAGTG	0.507													-|||	22	0.00439297	0.0121	0	5008	,	,		27811	0.002		0	False		,,,				2504	0.0041																0								ENSG00000169876						257	261	260					7																	100680100		2203	4300	6503	MUC17	SO:0001819	synonymous_variant	0			-	HGNC	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.5403G>A	7.37:g.100680100G>A		Somatic	1	117	0.85		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	124	9.49	O14761|Q685J2|Q8TDH7	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S1801	ENST00000306151.4	37	c.5403	CCDS34711.1	7																																																																																			-	NULL		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105	rs142682652		100680100	1	no_errors	ENST00000306151	ensembl	human	known	74_37	silent	SNP	0.467	A	A	100680100	G	A	100680100	2	1	200	1	0	0	0	0	0	0	0	1	9976	1045	37	1		1	MUC17	7	100680100	Silent	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		100680100	58458563	29	15829			1	93		2	2	18	N	T_G	3.569433e-05
MUC17	140453	genome.wustl.edu	37	chr7	100680117	100680117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgactcttagtgaaggaaTgactccattaacaagcacac	7	11	1	2	rs147353603	byFrequency	TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr7:100680117T>C	ENST00000306151.4	+	3	5484	c.5420T>C	c.(5419-5421)aTg>aCg	p.M1807T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1807	59 X approximate tandem repeats.|Ser-rich.				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)					AGTGAAGGAATGACTCCATTA	0.507													-|||	4	0.000798722	8e-04	0	5008	,	,		27011	0.003		0	False		,,,				2504	0																0								ENSG00000169876						250	253	252					7																	100680117		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.5420T>C	7.37:g.100680117T>C	ENSP00000302716:p.Met1807Thr	Somatic	0	108	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	122	9.63	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.M1807T	ENST00000306151.4	37	c.5420	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.166907	0.00318	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.373	-0.746	0.11095	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48670	-0.9015	8	0.09338	T	0.73	.	.	.	.	.	1807	Q685J3	MUC17_HUMAN	T	1807	ENSP00000302716:M1807T	ENSP00000302716:M1807T	M	+	2	0	MUC17	100466837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.274000	0.00531	-4.523000	0.00044	-3.958000	0.00015	ATG	-	NULL		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	T	NM_001040105	rs147353603		100680117	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	C	C	100680117	T	C	100680117	3	2	200	1	0	0	0	0	1	0	0	0	9976	1464	51	5	5430	5	MUC17	7	100680117	Missense_Mutation	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09	17	100680117	58458546	30	15830			1	93		2	2	18	N	T_G	3.569433e-05
FEZF1	389549	genome.wustl.edu	37	chr7	121943251	121943251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgtgaatgatcttgtGcctgcacagggtgcttgctt	13	9	1	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr7:121943251G>T	ENST00000442488.2	-	2	983	c.916C>A	c.(916-918)Cac>Aac	p.H306N	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.H256N|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.H302N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	306					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|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)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGATCTTGTGCCTGCACAGG	0.468																																																	0								ENSG00000128610						147	140	142					7																	121943251		2203	4300	6503	FEZF1	SO:0001583	missense	0			-	HGNC	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.916C>A	7.37:g.121943251G>T	ENSP00000411145:p.His306Asn	Somatic	0	67	0		0.589148871452117	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	59	13.24	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H306N	ENST00000442488.2	37	c.916	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938720	0.92526	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	D;D;D	0.86865	-2.18;-2.18;-2.18	5.23	5.23	0.72850	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	0.95950	0.8681	H	0.96208	3.785	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.991	D	0.97106	0.9801	10	0.87932	D	0	-19.5123	19.2154	0.93776	0.0:0.0:1.0:0.0	.	306;256	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	N	306;302;256	ENSP00000411145:H306N;ENSP00000332777:H302N;ENSP00000392727:H256N	ENSP00000332777:H302N	H	-	1	0	FEZF1	121730487	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.920000	0.87521	2.602000	0.87976	0.650000	0.86243	CAC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	protein_coding	OTTHUMT00000347410.1	G	NM_001024613	-		121943251	-1	no_errors	ENST00000442488	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121943251	G	T	121943251	3	4	200	1	0	0	0	0	1	0	0	0	5827	1319	46	3	523	3	FEZF1	7	121943251	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	21263134	121943251	37195412	31	15831											
MLL3	58508	genome.wustl.edu	37	chr7	151900117	151900117	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtaacagaaacagattcatCaactaaagtatctggtaact	6	7	3	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr7:151900117C>T	ENST00000262189.6	-	26	4212	c.3994G>A	c.(3994-3996)Gat>Aat	p.D1332N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1332N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1332					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)										ACAGATTCATCAACTAAAGTA	0.333																																																	0								ENSG00000055609						104	102	103					7																	151900117		2202	4297	6499	KMT2C	SO:0001583	missense	0			-	HGNC	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.3994G>A	7.37:g.151900117C>T	ENSP00000262189:p.Asp1332Asn	Somatic	0	15	0		0.589148871452117	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D1332N	ENST00000262189.6	37	c.3994	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199997	0.79015	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84660	-1.88;-1.87	5.26	5.26	0.73747	.	0.140591	0.31660	N	0.007264	D	0.90034	0.6888	M	0.71581	2.175	0.80722	D	1	P;D	0.60575	0.952;0.988	P;P	0.58721	0.612;0.844	D	0.87761	0.2598	10	0.23891	T	0.37	.	18.4445	0.90678	0.0:1.0:0.0:0.0	.	1332;393	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	N	1332	ENSP00000262189:D1332N;ENSP00000347325:D1332N	ENSP00000262189:D1332N	D	-	1	0	MLL3	151531050	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.023000	0.76437	2.471000	0.83476	0.585000	0.79938	GAT	-	NULL		0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	C		-		151900117	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	SNP	1.000	T	T	151900117	C	T	151900117	3	4	200	1	0	0	0	0	1	0	0	0	9624	826	29	2	10877	2	MLL3	7	151900117	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	29956866	151900117	7238546	32	15832											
SGK223	157285	genome.wustl.edu	37	chr8	8176387	8176388	+	In_Frame_Ins	INS	-	-	GGGGCG													cggcggcgggggcgggagccINSggggcgggggcgggcccggg					rs143409664|rs369009941|rs71217287		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr8:8176387_8176388insGGGGCG	ENST00000520004.1	-	6	3761_3762	c.3497_3498insCGCCCC	c.(3496-3498)ccg>ccCGCCCCg	p.1166_1166P>PAP	SGK223_ENST00000330777.4_In_Frame_Ins_p.1166_1166P>PAP			Q86YV5	SG223_HUMAN		1170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										gggcgggagccggggcgggggc	0.782																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319			1183,1443		406,371,536						-9.8	0		dbSNP_134	4	2724,3170		936,852,1159	no	coding	SGK223	NM_001080826.1		1342,1223,1695	A1A1,A1R,RR		46.2165,45.0495,45.8568				3907,4613				SGK223	SO:0001652	inframe_insertion	0				Uniprot_gn																												ENST00000520004.1:c.3492_3497dupCGCCCC	8.37:g.8176388_8176393dupGGGGCG	ENSP00000428054:p.AlaPro1170dup	Somatic					0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q8N3N5	In_Frame_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.1170in_frame_insPA	ENST00000520004.1	37	c.3498_3497	CCDS43706.1	8																																																																																			-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.782	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	-				8176388	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.034	GGGGCG	GGGGCG	8176388	-	GGGGCG	8176387	7	5	200	1	0	1	1	0	0	0	0	0	14218	639	23	0	714	0	SGK223	8	8176387	In_Frame_Ins	INS	-	TCGA-QQ-A5VA-01A-12D-A32I-09		8176387	138187635	33	15833											
FAM167A	83648	genome.wustl.edu	37	chr8	11301807	11301807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggcctgcgggtctccagCctcagtttctcggtgagggc	16	12	3	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr8:11301807C>A	ENST00000528897.1	-	2	733	c.114G>T	c.(112-114)agG>agT	p.R38S	FAM167A_ENST00000284486.4_Missense_Mutation_p.R38S|FAM167A_ENST00000534308.1_Missense_Mutation_p.R38S|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	38										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGGTCTCCAGCCTCAGTTTCT	0.672																																																	0								ENSG00000154319						63	72	69					8																	11301807		2203	4300	6503	FAM167A	SO:0001583	missense	0			-	HGNC		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"chromosome 8 open reading frame 13"	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.114G>T	8.37:g.11301807C>A	ENSP00000436655:p.Arg38Ser	Somatic	0	65	0		0.589148871452117	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	58	29.27	A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP							pfam_FAM167	p.R38S	ENST00000528897.1	37	c.114	CCDS5981.1	8	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122312	0.56613	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.34	3.53	0.40419	.	0.106557	0.64402	N	0.000006	T	0.08582	0.0213	M	0.64997	1.995	0.46631	D	0.999134	P	0.35174	0.488	B	0.24701	0.055	T	0.09400	-1.0676	10	0.72032	D	0.01	-0.7328	8.2353	0.31622	0.0:0.7224:0.1313:0.1463	.	38	Q96KS9	F167A_HUMAN	S	38	ENSP00000284486:R38S;ENSP00000432232:R38S;ENSP00000436655:R38S;ENSP00000431951:R38S	ENSP00000284486:R38S	R	-	3	2	FAM167A	11339217	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.474000	0.22148	0.806000	0.34183	-0.140000	0.14226	AGG	-	NULL		0.672	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	FAM167A	protein_coding	OTTHUMT00000383901.1	C		-		11301807	-1	no_errors	ENST00000284486	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11301807	C	A	11301807	3	1	200	1	0	0	0	0	1	0	0	0	5485	738	26	3	538	3	FAM167A	8	11301807	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	3125420	11301807	135062215	34	15834											
IFNA16	3449	genome.wustl.edu	37	chr9	21217127	21217127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacacctcctgggggaatcCgaaatcatatctgtccttca	7	12	3	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr9:21217127C>T	ENST00000380216.1	-	1	183	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	60					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGGGGAATCCGAAATCATAT	0.507																																																	0								ENSG00000147885						111	111	111					9																	21217127		2203	4300	6503	IFNA16	SO:0001583	missense	0			-	HGNC		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.178G>A	9.37:g.21217127C>T	ENSP00000369564:p.Gly60Arg	Somatic	0	114	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	105	18.60	Q5VV12	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.G60R	ENST00000380216.1	37	c.178	CCDS34996.1	9	.	.	.	.	.	.	.	.	.	.	-	2.649	-0.282294	0.05642	.	.	ENSG00000147885	ENST00000380216	T	0.03212	4.01	2.51	-0.449	0.12226	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.223100	0.01555	N	0.019843	T	0.04092	0.0114	L	0.38175	1.15	0.09310	N	1	B	0.15473	0.013	B	0.25291	0.059	T	0.42749	-0.9433	10	0.33141	T	0.24	.	2.3694	0.04327	0.4346:0.3074:0.0:0.258	.	60	P05015	IFN16_HUMAN	R	60	ENSP00000369564:G60R	ENSP00000369564:G60R	G	-	1	0	IFNA16	21207127	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.135000	0.03225	-0.015000	0.14150	0.184000	0.17185	GGA	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA16	protein_coding	OTTHUMT00000051892.1	C	NM_002173	-		21217127	-1	no_errors	ENST00000380216	ensembl	human	known	74_37	missense	SNP	0.000	T	T	21217127	C	T	21217127	3	4	200	1	0	0	0	0	1	0	0	0	7537	661	23	1	395	1	IFNA16	9	21217127	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		21217127	119996304	35	15835											
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69423558	69423558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactggctgctgctataagCaaacacagtgaaagtgtgaa	11	7	0	3	rs199996482		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr9:69423558C>T	ENST00000357336.3	+	15	2135	c.1854C>T	c.(1852-1854)agC>agT	p.S618S		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	618										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CTGCTATAAGCAAACACAGTG	0.378																																																	0								ENSG00000172014						5	8	7					9																	69423558		1307	3030	4337	ANKRD20A4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1854C>T	9.37:g.69423558C>T		Somatic	0	19	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	81	19.80		Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S618	ENST00000357336.3	37	c.1854	CCDS43828.1	9																																																																																			-	NULL		0.378	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	protein_coding	OTTHUMT00000143287.3	C	NM_001098805	rs199996482		69423558	1	no_errors	ENST00000357336	ensembl	human	known	74_37	silent	SNP	0.000	T	T	69423558	C	T	69423558	2	4	200	1	0	0	0	0	0	0	0	1	650	709	25	2		2	ANKRD20A4	9	69423558	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	48206431	69423558	71789873	36	15836											
PNPLA7	375775	genome.wustl.edu	37	chr9	140409907	140409907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtttgcgaatggaaggCgcggggacggagtggctcct	17	8	1	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr9:140409907C>T	ENST00000277531.4	-	11	1260	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PNPLA7_ENST00000371457.1_5'UTR|PNPLA7_ENST00000406427.1_Silent_p.A383A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	358					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)			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)		GAATGGAAGGCGCGGGGACGG	0.657																																																	0								ENSG00000130653						18	20	19					9																	140409907		2169	4276	6445	PNPLA7	SO:0001819	synonymous_variant	0			-	HGNC	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.1074G>A	9.37:g.140409907C>T		Somatic	0	109	0		0.589148871452117	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	63	32.26	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A383	ENST00000277531.4	37	c.1149	CCDS7045.1	9																																																																																			-	NULL		0.657	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	C	NM_152286	-		140409907	-1	no_errors	ENST00000406427	ensembl	human	known	74_37	silent	SNP	0.224	T	T	140409907	C	T	140409907	2	4	200	1	0	0	0	0	0	0	0	1	12172	755	27	1		1	PNPLA7	9	140409907	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	70986349	140409907	803524	37	15837											
MTPAP	55149	genome.wustl.edu	37	chr10	30602633	30602633	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagcaagtttttgactgtttCaattgcaaacttattgcttt	6	6	1	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr10:30602633C>A	ENST00000263063.4	-	9	1697	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Nonsense_Mutation_p.E682*	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	552					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTGACTGTTTCAATTGCAAAC	0.388																																																	0								ENSG00000107951						172	164	167					10																	30602633		2203	4300	6503	MTPAP	SO:0001587	stop_gained	0			-	HGNC	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1654G>T	10.37:g.30602633C>A	ENSP00000263063:p.Glu552*	Somatic	0	67	0		0.589148871452117	22	72.15	57	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	53	36.14	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Nonsense_Mutation	SNP							pfam_PAP_assoc	p.E682*	ENST00000263063.4	37	c.2044	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610365	0.66558	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	.	.	.	5.88	4.97	0.65823	.	1.180850	0.05902	N	0.630108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-21.1843	14.434	0.67268	0.0:0.9298:0.0:0.0702	.	.	.	.	X	682;552	.	ENSP00000263063:E552X	E	-	1	0	MTPAP	30642639	1.000000	0.71417	0.042000	0.18584	0.003000	0.03518	3.370000	0.52372	2.780000	0.95670	0.655000	0.94253	GAA	-	NULL		0.388	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	protein_coding	OTTHUMT00000047426.2	C	NM_018109	-		30602633	-1	no_errors	ENST00000358107	ensembl	human	known	74_37	nonsense	SNP	0.994	A	A	30602633	C	A	30602633	4	1	200	1	0	0	0	0	0	1	0	0	9958	835	29	3	98	3	MTPAP	10	30602633	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		30602633	104932114	38	15838											
KRTAP5-3	387266	genome.wustl.edu	37	chr11	1628925	1628925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcactggcagcaaattgGgacacagcagctggactggg	14	10	0	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr11:1628925G>A	ENST00000399685.1	-	1	768	c.691C>T	c.(691-693)Cca>Tca	p.P231S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	231	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CAGCAAATTGGGACACAGCAG	0.587																																																	0								ENSG00000196224						148	156	153					11																	1628925		2202	4299	6501	KRTAP5-3	SO:0001583	missense	0			-	HGNC	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.691C>T	11.37:g.1628925G>A	ENSP00000382592:p.Pro231Ser	Somatic	0	184	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	109	17.42	Q6PL44|Q701N3	Missense_Mutation	SNP							NULL	p.P231S	ENST00000399685.1	37	c.691	CCDS41591.1	11	.	.	.	.	.	.	.	.	.	.	G	4.246	0.044623	0.08196	.	.	ENSG00000196224	ENST00000399685	T	0.01145	5.27	3.34	3.34	0.38264	.	.	.	.	.	T	0.05731	0.0150	M	0.86420	2.815	0.09310	N	1	D	0.69078	0.997	D	0.63703	0.917	T	0.21965	-1.0230	9	0.37606	T	0.19	.	6.8939	0.24245	0.1364:0.0:0.8636:0.0	.	231	Q6L8H2	KRA53_HUMAN	S	231	ENSP00000382592:P231S	ENSP00000382592:P231S	P	-	1	0	KRTAP5-3	1585501	0.427000	0.25514	0.227000	0.23927	0.162000	0.22319	1.297000	0.33400	1.578000	0.49821	0.298000	0.19748	CCA	-	NULL		0.587	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	protein_coding	OTTHUMT00000127924.1	G		-		1628925	-1	no_errors	ENST00000399685	ensembl	human	known	74_37	missense	SNP	0.009	A	A	1628925	G	A	1628925	3	1	200	1	0	0	0	0	1	0	0	0	8564	1232	43	2	29	2	KRTAP5-3	11	1628925	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		1628925	133377591	39	15839											
ANKK1	255239	genome.wustl.edu	37	chr11	113269853	113269853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcccacgaggtagacGtggactgccagacggcctct	14	13	1	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr11:113269853G>A	ENST00000303941.3	+	8	1256	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	388							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CGAGGTAGACGTGGACTGCCA	0.622																																																	0								ENSG00000170209						35	37	37					11																	113269853		2070	4197	6267	ANKK1	SO:0001583	missense	0			-	HGNC	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1162G>A	11.37:g.113269853G>A	ENSP00000306678:p.Val388Met	Somatic	0	61	0		0.589148871452117	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	44	38.03		Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.V388M	ENST00000303941.3	37	c.1162	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	G	7.497	0.651828	0.14516	.	.	ENSG00000170209	ENST00000303941	T	0.68765	-0.35	4.69	1.79	0.24919	Ankyrin repeat-containing domain (4);	0.257069	0.27464	N	0.019242	T	0.77883	0.4197	M	0.77820	2.39	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67122	-0.5750	10	0.72032	D	0.01	-16.893	7.9662	0.30100	0.3264:0.0:0.6736:0.0	.	388	Q8NFD2	ANKK1_HUMAN	M	388	ENSP00000306678:V388M	ENSP00000306678:V388M	V	+	1	0	ANKK1	112775063	0.002000	0.14202	0.022000	0.16811	0.001000	0.01503	0.022000	0.13511	0.211000	0.20683	-1.280000	0.01385	GTG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.622	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	protein_coding	OTTHUMT00000395830.1	G	NM_178510	-		113269853	1	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	SNP	0.025	A	A	113269853	G	A	113269853	3	1	200	1	0	0	0	0	1	0	0	0	631	1145	40	1	1192	1	ANKK1	11	113269853	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	111640928	113269853	21736663	40	15840											
DENND5B	160518	genome.wustl.edu	37	chr12	31648769	31648769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgcatcttgatcaaaaGggttccattctatattctga	6	10	5	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr12:31648769G>C	ENST00000389082.5	-	2	476	c.212C>G	c.(211-213)cCt>cGt	p.P71R	DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Missense_Mutation_p.P106R|DENND5B_ENST00000354285.4_Missense_Mutation_p.P93R|DENND5B_ENST00000536562.1_Missense_Mutation_p.P106R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	71	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTGATCAAAAGGGTTCCATTC	0.358																																																	0								ENSG00000170456						120	114	116					12																	31648769		1844	4097	5941	DENND5B	SO:0001583	missense	0			-	HGNC	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.212C>G	12.37:g.31648769G>C	ENSP00000373734:p.Pro71Arg	Somatic	0	205	0		0.589148871452117	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	163	22.64	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP							pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.P106R	ENST00000389082.5	37	c.317	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731772	0.69189	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.52	4.52	0.55395	uDENN (3);	0.000000	0.64402	D	0.000001	T	0.68100	0.2964	M	0.86028	2.79	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.997	D;D;D	0.76575	0.985;0.988;0.979	T	0.74284	-0.3715	10	0.66056	D	0.02	-18.1295	16.4982	0.84251	0.0:0.0:1.0:0.0	.	93;71;106	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	R	71;106;106;93;23	ENSP00000373734:P71R;ENSP00000306482:P106R;ENSP00000444889:P106R;ENSP00000346238:P93R;ENSP00000442938:P23R	ENSP00000306482:P106R	P	-	2	0	DENND5B	31540036	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.051000	0.76627	2.483000	0.83821	0.650000	0.86243	CCT	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.358	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	protein_coding	OTTHUMT00000402040.1	G	NM_144973	-		31648769	-1	no_errors	ENST00000306833	ensembl	human	known	74_37	missense	SNP	1.000	C	C	31648769	G	C	31648769	3	2	200	1	0	0	0	0	1	0	0	0	4439	1000	35	4	3692	4	DENND5B	12	31648769	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		31648769	102203126	41	15841											
NEUROD4	58158	genome.wustl.edu	37	chr12	55420485	55420485	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccttgagagattcagggctCgaagagtcaaggctaatgcc	13	9	2	3			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr12:55420485C>T	ENST00000242994.3	+	2	640	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	88	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R88*(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATTCAGGGCTCGAAGAGTCAA	0.507																																																	2	Substitution - Nonsense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)						ENSG00000123307						67	67	67					12																	55420485		2203	4300	6503	NEUROD4	SO:0001587	stop_gained	0			-	HGNC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.262C>T	12.37:g.55420485C>T	ENSP00000242994:p.Arg88*	Somatic	0	34	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2RAC9	Nonsense_Mutation	SNP							pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.R88*	ENST00000242994.3	37	c.262	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.232720	0.98154	.	.	ENSG00000123307	ENST00000242994	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4191	11.7335	0.51752	0.1762:0.8238:0.0:0.0	.	.	.	.	X	88	.	ENSP00000242994:R88X	R	+	1	2	NEUROD4	53706752	0.853000	0.29707	1.000000	0.80357	0.996000	0.88848	2.612000	0.46343	2.603000	0.88011	0.655000	0.94253	CGA	-	pfam_bHLH_dom,superfamily_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom		0.507	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	protein_coding	OTTHUMT00000406104.1	C		-		55420485	1	no_errors	ENST00000242994	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	55420485	C	T	55420485	4	4	200	1	0	0	0	0	0	1	0	0	10352	876	31	1	264	1	NEUROD4	12	55420485	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	23771716	55420485	78431410	42	15842											
POLE	5426	genome.wustl.edu	37	chr12	133249233	133249233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctaaaccggcaagggaTatcgctgcggaaaaccccag	10	13	0	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr12:133249233T>C	ENST00000320574.5	-	15	1709	c.1666A>G	c.(1666-1668)Atc>Gtc	p.I556V	POLE_ENST00000535270.1_Missense_Mutation_p.I529V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	556					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CGGCAAGGGATATCGCTGCGG	0.567								DNA polymerases (catalytic subunits)																																									0								ENSG00000177084						92	92	92					12																	133249233		2203	4300	6503	POLE	SO:0001583	missense	0			-	HGNC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1666A>G	12.37:g.133249233T>C	ENSP00000322570:p.Ile556Val	Somatic	0	39	0		0.589148871452117	13	13.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	Q13533|Q86VH9	Missense_Mutation	SNP							pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.I556V	ENST00000320574.5	37	c.1666	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	T	28.4	4.917377	0.92249	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.18174	3.82;3.82;3.84;2.23	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.89715	3.055	0.80722	D	1	D;P	0.60160	0.987;0.899	P;P	0.62382	0.901;0.723	T	0.58657	-0.7598	10	0.72032	D	0.01	.	15.8998	0.79365	0.0:0.0:0.0:1.0	.	529;556	F5H1D6;Q07864	.;DPOE1_HUMAN	V	556;567;529;336;491;174	ENSP00000322570:I556V;ENSP00000406383:I567V;ENSP00000445753:I529V;ENSP00000442519:I336V	ENSP00000322570:I556V	I	-	1	0	POLE	131759306	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.956000	0.87863	2.165000	0.68154	0.260000	0.18958	ATC	-	smart_DNA-dir_DNA_pol_B		0.567	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	protein_coding	OTTHUMT00000397689.2	T	NM_006231	-		133249233	-1	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	SNP	1.000	C	C	133249233	T	C	133249233	3	2	200	1	0	0	0	0	1	0	0	0	12198	1406	49	5	5334	5	POLE	12	133249233	Missense_Mutation	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09	77828748	133249233	602662	43	15843											
C14orf105	55195	genome.wustl.edu	37	chr14	57947400	57947400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgaagggttttcttggCtttatggtcccttggacttt	11	7	1	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr14:57947400C>T	ENST00000216445.3	-	5	704	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	C14orf105_ENST00000422976.2_Missense_Mutation_p.A189T|C14orf105_ENST00000534126.1_Missense_Mutation_p.A189T	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	190										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GTTTTCTTGGCTTTATGGTCC	0.413																																																	0								ENSG00000100557						271	258	262					14																	57947400		2203	4300	6503	C14orf105	SO:0001583	missense	0			-	HGNC	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.568G>A	14.37:g.57947400C>T	ENSP00000216445:p.Ala190Thr	Somatic	0	54	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	71	11.11	Q53G04	Missense_Mutation	SNP							NULL	p.A190T	ENST00000216445.3	37	c.568	CCDS9730.1	14	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244195	0.39697	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	T;T;T	0.53857	0.6;0.6;0.6	5.61	3.75	0.43078	.	0.598055	0.15702	N	0.248870	T	0.39886	0.1095	L	0.29908	0.895	0.40274	D	0.978325	B;B;B;B;B	0.21753	0.035;0.06;0.002;0.008;0.008	B;B;B;B;B	0.23419	0.015;0.046;0.012;0.019;0.019	T	0.24657	-1.0154	10	0.56958	D	0.05	-0.0086	7.9765	0.30157	0.0:0.8042:0.0:0.1958	.	189;189;189;189;190	B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.;.;.;.;CN105_HUMAN	T	190;189;189	ENSP00000216445:A190T;ENSP00000392368:A189T;ENSP00000434003:A189T	ENSP00000216445:A190T	A	-	1	0	C14orf105	57017153	0.002000	0.14202	0.614000	0.29051	0.405000	0.30901	0.250000	0.18235	0.691000	0.31592	0.650000	0.86243	GCC	-	NULL		0.413	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf105	protein_coding	OTTHUMT00000276921.2	C	NM_018168	-		57947400	-1	no_errors	ENST00000216445	ensembl	human	known	74_37	missense	SNP	0.639	T	T	57947400	C	T	57947400	3	4	200	1	0	0	0	0	1	0	0	0	1739	797	28	2	330	2	C14orf105	14	57947400	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		57947400	49402140	44	15844											
ESR2	2100	genome.wustl.edu	37	chr14	64749427	64749427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacagatgtgataactggcGatggaccactaaaggagaaa	11	6	0	3	rs147382781		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr14:64749427G>A	ENST00000341099.4	-	2	694	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	ESR2_ENST00000553796.1_Missense_Mutation_p.R93C|ESR2_ENST00000357782.2_Missense_Mutation_p.R93C|ESR2_ENST00000353772.3_Missense_Mutation_p.R93C|ESR2_ENST00000555278.1_Missense_Mutation_p.R93C|ESR2_ENST00000542956.1_Missense_Mutation_p.R93C|ESR2_ENST00000557772.1_Missense_Mutation_p.R93C|ESR2_ENST00000267525.6_Missense_Mutation_p.R93C|ESR2_ENST00000358599.5_Missense_Mutation_p.R93C|ESR2_ENST00000554572.1_Missense_Mutation_p.R93C|ESR2_ENST00000555483.1_5'UTR	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	93	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATAACTGGCGATGGACCACT	0.507																																																	0								ENSG00000140009	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	101	96	98		277,277,277,277,277	3.2	0.2	14	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	93/496,93/496,93/482,93/473,93/531	64749427	1,13005	2203	4300	6503	ESR2	SO:0001583	missense	0			-	HGNC	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.277C>T	14.37:g.64749427G>A	ENSP00000343925:p.Arg93Cys	Somatic	0	37	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R93C	ENST00000341099.4	37	c.277	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	G	3.700	-0.061802	0.07317	2.27E-4	0.0	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.90004	-2.59;-2.54;-2.52;-2.52;-2.52;-2.6;-2.6;-2.6;-2.6;-2.42;-2.13	5.56	3.24	0.37175	Estrogen receptor beta, N-terminal (1);	0.372430	0.32386	N	0.006163	T	0.62490	0.2432	N	0.00300	-1.685	0.30746	N	0.745669	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001	T	0.58387	-0.7645	10	0.14656	T	0.56	.	9.3477	0.38118	0.8518:0.0:0.1482:0.0	.	93;93;93;93;93	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	C	93	ENSP00000452485:R93C;ENSP00000441792:R93C;ENSP00000450699:R93C;ENSP00000335551:R93C;ENSP00000351412:R93C;ENSP00000450488:R93C;ENSP00000452426:R93C;ENSP00000350427:R93C;ENSP00000451582:R93C;ENSP00000343925:R93C;ENSP00000267525:R93C	ENSP00000267525:R93C	R	-	1	0	ESR2	63819180	1.000000	0.71417	0.152000	0.22495	0.011000	0.07611	2.814000	0.48010	0.413000	0.25759	-0.471000	0.05019	CGC	-	pfam_Estrogen_rcpt_beta_N		0.507	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	protein_coding	OTTHUMT00000280621.1	G		rs147382781		64749427	-1	no_errors	ENST00000341099	ensembl	human	known	74_37	missense	SNP	0.979	A	A	64749427	G	A	64749427	3	1	200	1	0	0	0	0	1	0	0	0	5259	1058	37	1	1433	1	ESR2	14	64749427	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	6802027	64749427	42600113	45	15845											
MTHFD1	4522	genome.wustl.edu	37	chr14	64884678	64884679	+	Frame_Shift_Ins	INS	-	-	G													ggggccccgatgcatgacttINSgcttctgtggaacaatgcca							TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr14:64884678_64884679insG	ENST00000545908.1	+	7	948_949	c.719_720insG	c.(718-723)ttgcttfs	p.L241fs	MTHFD1_ENST00000216605.8_Frame_Shift_Ins_p.L185fs			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	185	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ATGCATGACTTGCTTCTGTGGA	0.559																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												0								ENSG00000100714																																			MTHFD1	SO:0001589	frameshift_variant	0				HGNC	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.720dupG	14.37:g.64884679_64884679dupG	ENSP00000438588:p.Leu241fs	Somatic	0	59	0		0.589148871452117	61	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Frame_Shift_Ins	INS							pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.L185fs	ENST00000545908.1	37	c.551_552		14																																																																																			-	pfam_THF_DH/CycHdrlase_NAD-bd_dom		0.559	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	protein_coding	OTTHUMT00000412167.1	-				64884679	1	no_errors	ENST00000216605	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	G	G	64884679	-	G	64884678	7	5	200	1	0	1	1	0	0	0	0	0	9929	1821	63	0	577	0	MTHFD1	14	64884678	Frame_Shift_Ins	INS	-	TCGA-QQ-A5VA-01A-12D-A32I-09	135251	64884678	42464862	46	15846											
DMXL2	23312	genome.wustl.edu	37	chr15	51828727	51828727	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcattgaggtgaaaTcgatgaccgcaatatctaaa	10	8	2	3			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr15:51828727T>C	ENST00000251076.5	-	12	2237	c.1950A>G	c.(1948-1950)cgA>cgG	p.R650R	DMXL2_ENST00000449909.3_Silent_p.R650R|DMXL2_ENST00000543779.2_Silent_p.R650R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	650						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAGGTGAAATCGATGACCGC	0.393																																																	0								ENSG00000104093						86	84	84					15																	51828727		2195	4293	6488	DMXL2	SO:0001819	synonymous_variant	0			-	HGNC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1950A>G	15.37:g.51828727T>C		Somatic	0	17	0		0.589148871452117	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP							pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R650	ENST00000251076.5	37	c.1950	CCDS10141.1	15																																																																																			-	NULL		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	T	NM_015263	-		51828727	-1	no_errors	ENST00000543779	ensembl	human	known	74_37	silent	SNP	0.822	C	C	51828727	T	C	51828727	2	2	200	1	0	0	0	0	0	0	0	1	4597	1422	50	5		5	DMXL2	15	51828727	Silent	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09		51828727	50702665	47	15847											
COG4	25839	genome.wustl.edu	37	chr16	70530315	70530315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggaaagcccatccgcaGcttattacacagaacatccc	8	14	0	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr16:70530315G>A	ENST00000323786.5	-	12	1522	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	497					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CCCATCCGCAGCTTATTACAC	0.552																																																	0								ENSG00000103051						87	72	77					16																	70530315		2198	4300	6498	COG4	SO:0001819	synonymous_variant	0			-	HGNC	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1501C>T	16.37:g.70530315G>A		Somatic	0	55	0		0.589148871452117	96	14.91	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP							pfam_COG_su4,smart_COG_su4	p.L501	ENST00000323786.5	37	c.1501	CCDS10892.2	16																																																																																			-	pfam_COG_su4,smart_COG_su4		0.552	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	protein_coding	OTTHUMT00000250326.3	G		-		70530315	-1	no_errors	ENST00000323786	ensembl	human	known	74_37	silent	SNP	1.000	A	A	70530315	G	A	70530315	2	1	200	1	0	0	0	0	0	0	0	1	3662	962	34	2		2	COG4	16	70530315	Silent	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09		70530315	19824438	48	15848											
BCMO1	53630	genome.wustl.edu	37	chr16	81279115	81279115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagggaaccctgctcCgcaatgggcctgggatgcac	15	13	0	0	rs201320081		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr16:81279115C>T	ENST00000258168.2	+	2	561	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	BCMO1_ENST00000564552.1_Missense_Mutation_p.R34C|BCMO1_ENST00000425577.2_Missense_Mutation_p.P8L	NM_017429.2	NP_059125.2												p.R34C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AACCCTGCTCCGCAATGGGCC	0.527													C|||	1	0.000199681	0	0	5008	,	,		21364	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	skin(1)						ENSG00000135697						150	146	147					16																	81279115		2202	4300	6502	BCMO1	SO:0001583	missense	0			GMAF=0.0005	HGNC																												ENST00000258168.2:c.100C>T	16.37:g.81279115C>T	ENSP00000258168:p.Arg34Cys	Somatic	0	59	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67		Missense_Mutation	SNP							pfam_Carotenoid_Oase	p.R34C	ENST00000258168.2	37	c.100	CCDS10934.1	16	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	12.56|12.56	1.974608|1.974608	0.34848|0.34848	.|.	.|.	ENSG00000135697|ENSG00000135697	ENST00000425577|ENST00000258168	D|D	0.93366|0.98849	-3.21|-5.18	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99399|0.99399	0.9788|0.9788	H|H	0.94503|0.94503	3.545|3.545	0.45747|0.45747	D|D	0.998646|0.998646	B|D	0.28880|0.89917	0.226|1.0	B|D	0.20184|0.85130	0.028|0.997	D|D	0.98552|0.98552	1.0637|1.0637	9|10	0.87932|0.87932	D|D	0|0	-26.353|-26.353	18.0482|18.0482	0.89340|0.89340	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	8|34	E7EM88|Q9HAY6	.|BCDO1_HUMAN	L|C	8|34	ENSP00000400586:P8L|ENSP00000258168:R34C	ENSP00000400586:P8L|ENSP00000258168:R34C	P|R	+|+	2|1	0|0	BCMO1|BCMO1	79836616|79836616	0.984000|0.984000	0.35163|0.35163	0.243000|0.243000	0.24186|0.24186	0.664000|0.664000	0.39144|0.39144	2.666000|2.666000	0.46799|0.46799	2.411000|2.411000	0.81874|0.81874	0.655000|0.655000	0.94253|0.94253	CCG|CGC	-	pfam_Carotenoid_Oase		0.527	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	protein_coding	OTTHUMT00000269056.1	C		rs201320081		81279115	1	no_errors	ENST00000258168	ensembl	human	known	74_37	missense	SNP	0.998	T	T	81279115	C	T	81279115	3	4	200	1	0	0	0	0	1	0	0	0	1384	652	23	1	106	1	BCMO1	16	81279115	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	10748800	81279115	9075638	49	15849											
FAM92B	339145	genome.wustl.edu	37	chr16	85141485	85141485	+	Silent	SNP	C	C	A													tccgagggtgacttctgcctCagtttctccagtttttccag							TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr16:85141485C>A	ENST00000539556.1	-	4	548	c.393G>T	c.(391-393)ctG>ctT	p.L131L		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						ACTTCTGCCTCAGTTTCTCCA	0.502																																																	0								ENSG00000153789						204	198	200					16																	85141485		2198	4300	6498	FAM92B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.393G>T	16.37:g.85141485C>A		Somatic	0	62	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44		Silent	SNP							pfam_FAM92	p.L131	ENST00000539556.1	37	c.393	CCDS32500.1	16																																																																																			-	pfam_FAM92		0.502	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	protein_coding		C	NM_198491	-		85141485	-1	no_errors	ENST00000539556	ensembl	human	known	74_37	silent	SNP	0.999	A	A	85141485	C	A	85141485	2	1	200	1	0	0	0	0	0	0	0	1	5655	813	29	3		3	FAM92B	16	85141485	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	3862370	85141485	5213268	50	15850	393	2									
FAM92B	339145	genome.wustl.edu	37	chr16	85141486	85141486	+	Missense_Mutation	SNP	A	A	T													ccgagggtgacttctgcctcAgtttctccagtttttccagt							TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr16:85141486A>T	ENST00000539556.1	-	4	547	c.392T>A	c.(391-393)cTg>cAg	p.L131Q		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CTTCTGCCTCAGTTTCTCCAG	0.502																																																	0								ENSG00000153789						207	201	203					16																	85141486		2198	4300	6498	FAM92B	SO:0001583	missense	0			-	HGNC		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.392T>A	16.37:g.85141486A>T	ENSP00000443411:p.Leu131Gln	Somatic	0	62	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00		Missense_Mutation	SNP							pfam_FAM92	p.L131Q	ENST00000539556.1	37	c.392	CCDS32500.1	16	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110945	0.77210	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.64803	-0.12	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000081	T	0.78375	0.4273	M	0.78916	2.43	0.37924	D	0.931773	D	0.69078	0.997	D	0.71656	0.974	T	0.82872	-0.0242	10	0.59425	D	0.04	-27.8268	13.9293	0.63983	1.0:0.0:0.0:0.0	.	131	Q6ZTR7	FA92B_HUMAN	Q	131	ENSP00000443411:L131Q	ENSP00000376937:L131Q	L	-	2	0	FAM92B	83698987	0.991000	0.36638	1.000000	0.80357	0.956000	0.61745	4.599000	0.61076	2.181000	0.69327	0.408000	0.27601	CTG	-	pfam_FAM92		0.502	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	protein_coding		A	NM_198491	-		85141486	-1	no_errors	ENST00000539556	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85141486	A	T	85141486	3	4	200	1	0	0	0	0	1	0	0	0	5655	188	7	5	542	5	FAM92B	16	85141486	Missense_Mutation	SNP	A	TCGA-QQ-A5VA-01A-12D-A32I-09	1	85141486	5213267	51	15851	393	2									
TP53	7157	genome.wustl.edu	37	chr17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctcaggcggctcatAgggcaccaccacactatgtc	9	16	2	1	rs530941076		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr17:7578191A>G	ENST00000269305.4	-	6	847	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220H|TP53_ENST00000413465.2_Missense_Mutation_p.Y220H|TP53_ENST00000455263.2_Missense_Mutation_p.Y220H|TP53_ENST00000445888.2_Missense_Mutation_p.Y220H|TP53_ENST00000359597.4_Missense_Mutation_p.Y220H	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	GGCGGCTCATAGGGCACCACC	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)			A|||	1	0.000199681	8e-04	0	5008	,	,		16888	0		0	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(22)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	breast(10)|biliary_tract(6)|endometrium(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|skin(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|ovary(1)						ENSG00000141510						105	96	99					17																	7578191		2203	4300	6503	TP53	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;	-	HGNC	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.658T>C	17.37:g.7578191A>G	ENSP00000269305:p.Tyr220His	Somatic	1	112	0.88		0.589148871452117	42	59.22	61	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	51	34.62	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220H	ENST00000269305.4	37	c.658	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245298	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	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	5.28	5.28	0.74379	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	0.99729	0.9894	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.995;1.0;0.999;0.998;1.0	D	0.97028	0.9748	10	0.87932	D	0	-1.87	13.4753	0.61306	1.0:0.0:0.0:0.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220H;ENSP00000352610:Y220H;ENSP00000269305:Y220H;ENSP00000398846:Y220H;ENSP00000391127:Y220H;ENSP00000391478:Y220H;ENSP00000425104:Y88H;ENSP00000423862:Y127H	ENSP00000269305:Y220H	Y	-	1	0	TP53	7518916	1.000000	0.71417	0.614000	0.29051	0.991000	0.79684	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	TAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578191	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.998	G	G	7578191	A	G	7578191	3	3	200	1	0	0	0	0	1	0	0	0	16388	420	15	5	636	5	TP53	17	7578191	Missense_Mutation	SNP	A	TCGA-QQ-A5VA-01A-12D-A32I-09		7578191	73617019	52	15852											
RUNDC1	146923	genome.wustl.edu	37	chr17	41143458	41143458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgacagccatccacatgGtgctgacagagcatgaccct	9	13	0	4			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr17:41143458G>T	ENST00000361677.1	+	5	1579	c.1567G>T	c.(1567-1569)Gtg>Ttg	p.V523L		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	523	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CATCCACATGGTGCTGACAGA	0.567																																																	0								ENSG00000198863						88	78	81					17																	41143458		2203	4300	6503	RUNDC1	SO:0001583	missense	0			-	HGNC	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1567G>T	17.37:g.41143458G>T	ENSP00000354622:p.Val523Leu	Somatic	0	68	0		0.589148871452117	28	26.32	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP							pfam_Run,smart_Run,pfscan_Run	p.V523L	ENST00000361677.1	37	c.1567	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720306	0.89205	.	.	ENSG00000198863	ENST00000361677	T	0.24723	1.84	5.02	5.02	0.67125	RUN (2);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.65498	2.005	0.80722	D	1	D	0.61697	0.99	D	0.65323	0.934	T	0.48340	-0.9044	10	0.56958	D	0.05	-26.647	18.5295	0.90986	0.0:0.0:1.0:0.0	.	523	Q96C34	RUND1_HUMAN	L	523	ENSP00000354622:V523L	ENSP00000354622:V523L	V	+	1	0	RUNDC1	38396984	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.607000	0.98328	2.598000	0.87819	0.655000	0.94253	GTG	-	pfam_Run,pfscan_Run		0.567	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	protein_coding	OTTHUMT00000452464.1	G	NM_173079	-		41143458	1	no_errors	ENST00000361677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41143458	G	T	41143458	3	4	200	1	0	0	0	0	1	0	0	0	13750	1261	44	3	1585	3	RUNDC1	17	41143458	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	33565267	41143458	40051752	53	15853											
ZNF652	22834	genome.wustl.edu	37	chr17	47389375	47389375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatgattttccacaggtttCgcatgtaaatggcatgtctt	9	7	1	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr17:47389375C>T	ENST00000362063.2	-	4	1396	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	ZNF652_ENST00000430262.2_Missense_Mutation_p.E360K	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	360					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(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCACAGGTTTCGCATGTAAAT	0.423																																																	0								ENSG00000198740						174	149	157					17																	47389375		2203	4300	6503	ZNF652	SO:0001583	missense	0			-	HGNC	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1078G>A	17.37:g.47389375C>T	ENSP00000354686:p.Glu360Lys	Somatic	0	37	0		0.589148871452117	16	5.88	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	A4QPD9|Q5H9Q0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E360K	ENST00000362063.2	37	c.1078	CCDS32677.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.287203	0.95517	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.06608	3.28;3.28	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	N	0.25245	0.725	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.20306	-1.0279	10	0.30078	T	0.28	-17.85	17.9956	0.89182	0.0:1.0:0.0:0.0	.	360	Q9Y2D9	ZN652_HUMAN	K	360	ENSP00000354686:E360K;ENSP00000416305:E360K	ENSP00000354686:E360K	E	-	1	0	ZNF652	44744374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.547000	0.82146	2.639000	0.89480	0.655000	0.94253	GAA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	protein_coding	OTTHUMT00000364524.1	C	NM_014897	-		47389375	-1	no_errors	ENST00000362063	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47389375	C	T	47389375	3	4	200	1	0	0	0	0	1	0	0	0	18072	893	31	1	754	1	ZNF652	17	47389375	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	6245917	47389375	33805835	54	15854											
VAV1	7409	genome.wustl.edu	37	chr19	6773005	6773005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgtgaggtcaacctgCgcccccagatgtcccaggtg	12	15	1	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr19:6773005C>T	ENST00000602142.1	+	1	269	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	VAV1_ENST00000596764.1_Missense_Mutation_p.R63C|VAV1_ENST00000539284.1_5'UTR|VAV1_ENST00000304076.2_Missense_Mutation_p.R63C	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	63	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGTCAACCTGCGCCCCCAGAT	0.657																																																	0								ENSG00000141968						115	88	97					19																	6773005		2203	4300	6503	VAV1	SO:0001583	missense	0			-	HGNC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.187C>T	19.37:g.6773005C>T	ENSP00000472929:p.Arg63Cys	Somatic	0	98	0		0.589148871452117	38	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.R63C	ENST00000602142.1	37	c.187	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	c	18.41	3.616960	0.66672	.	.	ENSG00000141968	ENST00000304076	T	0.63417	-0.04	4.32	2.1	0.27182	Calponin homology domain (5);	0.091656	0.43416	N	0.000576	T	0.77644	0.4161	M	0.88570	2.965	0.80722	D	1	D;D	0.60160	0.958;0.987	P;D	0.64410	0.757;0.925	T	0.77493	-0.2567	10	0.87932	D	0	.	8.8227	0.35036	0.0:0.806:0.0:0.194	.	63;63	B2R8B5;P15498	.;VAV_HUMAN	C	63	ENSP00000302269:R63C	ENSP00000302269:R63C	R	+	1	0	VAV1	6724005	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	1.657000	0.37366	0.267000	0.21916	0.306000	0.20318	CGC	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.657	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	protein_coding	OTTHUMT00000458475.1	C		-		6773005	1	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6773005	C	T	6773005	3	4	200	1	0	0	0	0	1	0	0	0	17138	768	27	1	189	1	VAV1	19	6773005	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		6773005	52355978	55	15855											
CCDC130	81576	genome.wustl.edu	37	chr19	13865118	13865118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtgaaaggaaagggGtcaacaagtactatcctcca	12	8	1	1			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr19:13865118G>A	ENST00000586600.1	+	4	522	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	CCDC130_ENST00000221554.8_Missense_Mutation_p.V7I			P13994	CC130_HUMAN	coiled-coil domain containing 130	7					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGGAAAGGGGTCAACAAGTA	0.488																																																	0								ENSG00000104957						113	91	98					19																	13865118		2203	4300	6503	CCDC130	SO:0001583	missense	0			-	HGNC	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.19G>A	19.37:g.13865118G>A	ENSP00000465776:p.Val7Ile	Somatic	0	100	0		0.589148871452117	73	21.51	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	48	21.31	Q9BQ72	Missense_Mutation	SNP							pfam_CWC16	p.V7I	ENST00000586600.1	37	c.19	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375940	0.24857	.	.	ENSG00000104957	ENST00000540216;ENST00000221554	T	0.27720	1.65	4.1	1.89	0.25635	.	0.623138	0.16654	N	0.205082	T	0.23054	0.0557	N	0.20807	0.61	0.18873	N	0.999986	B;P	0.42296	0.254;0.775	B;P	0.48873	0.186;0.593	T	0.06427	-1.0827	10	0.41790	T	0.15	-18.043	3.9565	0.09391	0.2248:0.2131:0.5622:0.0	.	7;7	B7Z1U2;P13994	.;CC130_HUMAN	I	7	ENSP00000221554:V7I	ENSP00000221554:V7I	V	+	1	0	CCDC130	13726118	0.585000	0.26774	0.055000	0.19348	0.827000	0.46813	2.602000	0.46257	0.361000	0.24292	0.462000	0.41574	GTC	-	pfam_CWC16		0.488	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	protein_coding	OTTHUMT00000453216.2	G	NM_030818	-		13865118	1	no_errors	ENST00000221554	ensembl	human	known	74_37	missense	SNP	0.211	A	A	13865118	G	A	13865118	3	1	200	1	0	0	0	0	1	0	0	0	2768	1261	44	2	25	2	CCDC130	19	13865118	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	7092113	13865118	45263865	56	15856											
SF4	57794	genome.wustl.edu	37	chr19	19407813	19407813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacctgacagaggcgaggGagaggcatccacgtccctct	12	15	1	3			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr19:19407813G>A	ENST00000247001.5	-	8	1575	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	SUGP1_ENST00000585763.1_5'Flank	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	410					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGAGGCGAGGGAGAGGCATCC	0.582																																																	0								ENSG00000105705						29	25	26					19																	19407813		2203	4300	6503	SUGP1	SO:0001583	missense	0			-	HGNC	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1228C>T	19.37:g.19407813G>A	ENSP00000247001:p.Pro410Ser	Somatic	0	61	0		0.589148871452117	79	17.71	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	54	12.90	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP							pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.P410S	ENST00000247001.5	37	c.1228	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538806	0.27475	.	.	ENSG00000105705	ENST00000247001	T	0.23348	1.91	3.66	3.66	0.41972	.	0.265236	0.37393	N	0.002110	T	0.25121	0.0610	L	0.34521	1.04	0.80722	D	1	D	0.54397	0.966	P	0.48738	0.588	T	0.01617	-1.1311	10	0.34782	T	0.22	.	12.5737	0.56352	0.0:0.0:1.0:0.0	.	410	Q8IWZ8	SUGP1_HUMAN	S	410	ENSP00000247001:P410S	ENSP00000247001:P410S	P	-	1	0	SUGP1	19268813	1.000000	0.71417	0.160000	0.22671	0.717000	0.41224	5.426000	0.66476	2.069000	0.61940	0.491000	0.48974	CCC	-	NULL		0.582	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	protein_coding	OTTHUMT00000460128.4	G	NM_021164	-		19407813	-1	no_errors	ENST00000247001	ensembl	human	known	74_37	missense	SNP	0.859	A	A	19407813	G	A	19407813	3	1	200	1	0	0	0	0	1	0	0	0	14163	1174	41	2	737	2	SF4	19	19407813	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	5542695	19407813	39721170	57	15857											
ZNF808	388558	genome.wustl.edu	37	chr19	53058345	53058345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcatcccttgtatgccatCgtagaattcatagtggtgag	11	8	2	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr19:53058345C>T	ENST00000359798.4	+	5	2356	c.2176C>T	c.(2176-2178)Cgt>Tgt	p.R726C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	726					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTATGCCATCGTAGAATTCA	0.433																																																	0								ENSG00000198482						212	206	208					19																	53058345		2203	4300	6503	ZNF808	SO:0001583	missense	0			-	HGNC	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2176C>T	19.37:g.53058345C>T	ENSP00000352846:p.Arg726Cys	Somatic	0	130	0		0.589148871452117	9	25	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	111	25.00	Q68CN7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R726C	ENST00000359798.4	37	c.2176	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	12.63	1.995357	0.35226	.	.	ENSG00000198482	ENST00000359798	T	0.18502	2.21	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19005	0.0456	L	0.60904	1.88	0.09310	N	0.99999	B	0.18166	0.026	B	0.21546	0.035	T	0.25187	-1.0139	9	0.87932	D	0	.	10.0866	0.42421	0.0:1.0:0.0:0.0	.	726	Q8N4W9	ZN808_HUMAN	C	726	ENSP00000352846:R726C	ENSP00000352846:R726C	R	+	1	0	ZNF808	57750157	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.436000	0.06922	0.846000	0.35142	0.313000	0.20887	CGT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	protein_coding	OTTHUMT00000350447.3	C	NM_001039886	-		53058345	1	no_errors	ENST00000359798	ensembl	human	known	74_37	missense	SNP	0.336	T	T	53058345	C	T	53058345	3	4	200	1	0	0	0	0	1	0	0	0	18180	884	31	1	2186	1	ZNF808	19	53058345	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	33650532	53058345	6070638	58	15858											
MYT1	4661	genome.wustl.edu	37	chr20	62839308	62839308	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtccagcaagcagaaaggCatcctgagtcacgaagagga	13	9	1	3			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr20:62839308C>A	ENST00000328439.1	+	7	1123	c.759C>A	c.(757-759)ggC>ggA	p.G253G	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.G253G	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGAAAGGCATCCTGAGTC	0.597																																					GBM(59;481 1041 20555 21139 33705)												0								ENSG00000196132						29	29	29					20																	62839308		2203	4300	6503	MYT1	SO:0001819	synonymous_variant	0			-	HGNC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.759C>A	20.37:g.62839308C>A		Somatic	0	23	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.G253	ENST00000328439.1	37	c.759	CCDS13558.1	20																																																																																			-	NULL		0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	protein_coding	OTTHUMT00000080297.1	C	NM_004535	-		62839308	1	no_errors	ENST00000536311	ensembl	human	known	74_37	silent	SNP	0.000	A	A	62839308	C	A	62839308	2	1	200	1	0	0	0	0	0	0	0	1	10108	697	25	3		3	MYT1	20	62839308	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		62839308	186212	59	15859											
ATP6V1E1	529	genome.wustl.edu	37	chr22	18082831	18082831	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcctgcaacgaacaaTcattcggggctccagcaact	8	12	1	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr22:18082831T>A	ENST00000253413.5	-	6	579	c.397A>T	c.(397-399)Att>Ttt	p.I133F	ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.I103F|ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.I111F	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	133					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 plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CAACGAACAATCATTCGGGGC	0.443																																																	0								ENSG00000131100						50	54	53					22																	18082831		2203	4300	6503	ATP6V1E1	SO:0001583	missense	0			-	HGNC	X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"ATPases / V-type"	857	protein-coding gene	gene with protein product		108746	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.397A>T	22.37:g.18082831T>A	ENSP00000253413:p.Ile133Phe	Somatic	0	204	0		0.589148871452117	588	25.48	201	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	205	14.23	A8MUE4|A8MUN4	Missense_Mutation	SNP							pfam_ATPase_V1/A1-cplx_esu	p.I133F	ENST00000253413.5	37	c.397	CCDS13745.1	22	.	.	.	.	.	.	.	.	.	.	T	13.81	2.346972	0.41599	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798;ENST00000413576	.	.	.	4.69	2.3	0.28687	.	0.309084	0.36268	N	0.002700	T	0.65984	0.2744	M	0.85630	2.765	0.42755	D	0.993784	B;B;B	0.29341	0.242;0.142;0.242	B;B;B	0.38655	0.278;0.278;0.278	T	0.65319	-0.6197	9	0.56958	D	0.05	-6.2355	6.1587	0.20352	0.1483:0.0:0.2959:0.5559	.	111;103;133	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	F	133;103;111;134	.	ENSP00000253413:I133F	I	-	1	0	ATP6V1E1	16462831	0.998000	0.40836	1.000000	0.80357	0.586000	0.36452	0.898000	0.28404	0.702000	0.31825	0.472000	0.43445	ATT	-	pfam_ATPase_V1/A1-cplx_esu		0.443	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E1	protein_coding	OTTHUMT00000131790.3	T	NM_001696	-		18082831	-1	no_errors	ENST00000253413	ensembl	human	known	74_37	missense	SNP	0.996	A	A	18082831	T	A	18082831	3	1	200	1	0	0	0	0	1	0	0	0	1183	1435	50	5	299	5	ATP6V1E1	22	18082831	Missense_Mutation	SNP	T	TCGA-QQ-A5VA-01A-12D-A32I-09		18082831	33221735	60	15860											
NEFH	4744	genome.wustl.edu	37	chr22	29884864	29884864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaaggtgaagagtgtcGgattggctttggcccaattc	14	8	0	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chr22:29884864G>A	ENST00000310624.6	+	4	1268	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	412	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R412L(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGAGTGTCGGATTGGCTTT	0.448																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000100285						80	82	82					22																	29884864		2203	4300	6503	NEFH	SO:0001583	missense	0			-	HGNC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1235G>A	22.37:g.29884864G>A	ENSP00000311997:p.Arg412Gln	Somatic	0	116	0		0.589148871452117	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	66	17.50	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP							pfam_IF,pfam_DUF1388	p.R412Q	ENST00000310624.6	37	c.1235	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047913	0.75846	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90844	-2.74	6.17	5.16	0.70880	Filament (1);	0.000000	0.47093	D	0.000259	D	0.91442	0.7299	M	0.89968	3.075	0.48341	D	0.999633	P	0.45531	0.86	B	0.37198	0.243	D	0.92586	0.6079	10	0.87932	D	0	.	14.5336	0.67944	0.0692:0.0:0.9308:0.0	.	412	P12036	NFH_HUMAN	Q	412	ENSP00000311997:R412Q	ENSP00000311997:R412Q	R	+	2	0	NEFH	28214864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.246000	0.58740	1.633000	0.50488	0.655000	0.94253	CGG	-	pfam_IF		0.448	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	protein_coding	OTTHUMT00000321553.2	G	NM_021076	-		29884864	1	no_errors	ENST00000310624	ensembl	human	known	74_37	missense	SNP	1.000	A	A	29884864	G	A	29884864	3	1	200	1	0	0	0	0	1	0	0	0	10316	1116	39	1	1249	1	NEFH	22	29884864	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	11802033	29884864	21419702	61	15861											
FAM47B	170062	genome.wustl.edu	37	chrX	34961413	34961413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaaacagctggatccCgagaggaagctggaggacgc	16	9	0	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chrX:34961413C>T	ENST00000329357.5	+	1	501	c.465C>T	c.(463-465)ccC>ccT	p.P155P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	155										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						AGCTGGATCCCGAGAGGAAGC	0.562																																																	0								ENSG00000189132						56	50	52					X																	34961413		2202	4300	6502	FAM47B	SO:0001819	synonymous_variant	0			-	HGNC	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.465C>T	X.37:g.34961413C>T		Somatic	0	132	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	262	78	77.06	Q5JQN5|Q6PIG3	Silent	SNP							NULL	p.P155	ENST00000329357.5	37	c.465	CCDS14236.1	X																																																																																			-	NULL		0.562	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	C	NM_152631	-		34961413	1	no_errors	ENST00000329357	ensembl	human	known	74_37	silent	SNP	0.113	T	T	34961413	C	T	34961413	2	4	200	1	0	0	0	0	0	0	0	1	5572	639	23	1		1	FAM47B	23	34961413	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09		34961413	120309147	62	15862											
FAM47C	442444	genome.wustl.edu	37	chrX	37027073	37027073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgagactcgggtgtcctGtctccccccggagcctccca	10	19	1	1	rs149352851	byFrequency	TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chrX:37027073G>T	ENST00000358047.3	+	1	642	c.590G>T	c.(589-591)tGt>tTt	p.C197F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	197										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGGTGTCCTGTCTCCCCCCG	0.637													N|||	2	0.000529801	0	0.0029	3775	,	,		10975	0		0	False		,,,				2504	0																0								ENSG00000198173	G	PHE/CYS	0,3833		0,0,0,1631,571	28	30	29		590	-0.5	0	X	dbSNP_134	29	3,6725		0,2,1,2426,1871	no	missense	FAM47C	NM_001013736.2	205	0,2,1,4057,2442	TT,TG,T,GG,G		0.0446,0.0,0.0284	possibly-damaging	197/1036	37027073	3,10558	2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.590G>T	X.37:g.37027073G>T	ENSP00000367913:p.Cys197Phe	Somatic	0	192	0		0.589148871452117	1	96.97	32	WXS	Illumina HiSeq 2500	Phase_IV	tier1	405	140	74.31	Q6ZU46	Missense_Mutation	SNP							NULL	p.C197F	ENST00000358047.3	37	c.590	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	0.147	-1.095268	0.01858	0.0	4.46E-4	ENSG00000198173	ENST00000358047	T	0.14640	2.49	0.235	-0.47	0.12131	.	.	.	.	.	T	0.14527	0.0351	L	0.36672	1.1	0.09310	N	1	P	0.41498	0.752	P	0.48598	0.583	T	0.21999	-1.0229	9	0.51188	T	0.08	.	5.2535	0.15534	0.49:0.0:0.51:0.0	.	197	Q5HY64	FA47C_HUMAN	F	197	ENSP00000367913:C197F	ENSP00000367913:C197F	C	+	2	0	FAM47C	36936994	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.872000	0.01136	-1.854000	0.00565	TGT	-	NULL		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	G	NM_001013736	rs149352851		37027073	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.005	T	T	37027073	G	T	37027073	3	4	200	1	0	0	0	0	1	0	0	0	5573	1377	48	3	592	3	FAM47C	23	37027073	Missense_Mutation	SNP	G	TCGA-QQ-A5VA-01A-12D-A32I-09	2065660	37027073	118243487	63	15863											
AR	367	genome.wustl.edu	37	chrX	66765597	66765597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaggaagcagtatcCgaaggcagcagcagcgggag	16	10	0	0			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chrX:66765597C>T	ENST00000374690.3	+	1	1133	c.609C>T	c.(607-609)tcC>tcT	p.S203S	AR_ENST00000396044.3_Silent_p.S203S|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.S203S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	201	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AAGCAGTATCCGAAGGCAGCA	0.587									Androgen Insensitivity Syndrome																																								0			GRCh37	CI920926	AR	I		ENSG00000169083						27	27	27					X																	66765597		2203	4300	6503	AR	SO:0001819	synonymous_variant	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.609C>T	X.37:g.66765597C>T		Somatic	0	121	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	77	16.30	A2RUN2|B1AKD7|Q9UD95	Silent	SNP							pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.S203	ENST00000374690.3	37	c.609	CCDS14387.1	X																																																																																			-	pfam_Andrgn_rcpt		0.587	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	C	NM_000044	-		66765597	1	no_errors	ENST00000374690	ensembl	human	known	74_37	silent	SNP	0.000	T	T	66765597	C	T	66765597	2	4	200	1	0	0	0	0	0	0	0	1	836	639	23	1		1	AR	23	66765597	Silent	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	29738524	66765597	88504963	64	15864											
LUZP4	51213	genome.wustl.edu	37	chrX	114541124	114541124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtcactcaaagagatctCgtagccagggagatcttgtg	12	8	4	2	rs371208058		TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chrX:114541124C>T	ENST00000371920.3	+	4	704	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	LUZP4_ENST00000451986.2_Missense_Mutation_p.R151C	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	233						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAAGAGATCTCGTAGCCAGGG	0.473																																																	0								ENSG00000102021	C	CYS/ARG	1,3834		0,1,1631,571	122	107	112		697	1.4	0	X		112	0,6728		0,0,2428,1872	no	missense	LUZP4	NM_016383.3	180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	233/314	114541124	1,10562	2203	4300	6503	LUZP4	SO:0001583	missense	0			-	HGNC	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.697C>T	X.37:g.114541124C>T	ENSP00000360988:p.Arg233Cys	Somatic	0	45	0		0.589148871452117	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	11.11	B3KSD6	Missense_Mutation	SNP							NULL	p.R233C	ENST00000371920.3	37	c.697	CCDS14567.1	X	.	.	.	.	.	.	.	.	.	.	c	8.738	0.918364	0.17982	2.61E-4	0.0	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78126	-1.15;-1.15	2.3	1.42	0.22433	.	.	.	.	.	T	0.63498	0.2516	N	0.14661	0.345	0.09310	N	1	D;D	0.59767	0.986;0.986	P;B	0.47102	0.537;0.432	T	0.54316	-0.8312	9	0.48119	T	0.1	.	6.4085	0.21678	0.0:0.8324:0.0:0.1676	.	151;233	B3KSD6;Q9P127	.;LUZP4_HUMAN	C	151;233	ENSP00000411212:R151C;ENSP00000360988:R233C	ENSP00000360988:R233C	R	+	1	0	LUZP4	114447380	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.081000	0.11321	0.436000	0.26393	0.284000	0.19432	CGT	-	NULL		0.473	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LUZP4	protein_coding	OTTHUMT00000057972.1	C	NM_016383	-		114541124	1	no_errors	ENST00000371920	ensembl	human	known	74_37	missense	SNP	0.001	T	T	114541124	C	T	114541124	3	4	200	1	0	0	0	0	1	0	0	0	9090	884	31	1	711	1	LUZP4	23	114541124	Missense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	47775527	114541124	40729436	65	15865											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994549	140994549	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctcctctttctcctaCactttattgagtcttttcca	5	12	3	2			TCGA-QQ-A5VA-01A-12D-A32I-09	TCGA-QQ-A5VA-11A-11D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	785de115-c037-46d5-84c5-34a20ade7a78	52b82f28-4796-456a-8523-59c171707336	g.chrX:140994549C>A	ENST00000285879.4	+	4	1645	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	453										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTCCTACACTTTATTGA	0.468										HNSCC(15;0.026)																																							0								ENSG00000155495						94	104	100					X																	140994549		2197	4291	6488	MAGEC1	SO:0001587	stop_gained	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1359C>A	X.37:g.140994549C>A	ENSP00000285879:p.Tyr453*	Somatic	0	117	0		0.589148871452117	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	204	11.30	A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.Y453*	ENST00000285879.4	37	c.1359	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	19.77	3.889818	0.72524	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.131	0.131	0.14755	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9545	0.19265	0.0:0.9994:0.0:6.0E-4	.	.	.	.	X	453	.	ENSP00000285879:Y453X	Y	+	3	2	MAGEC1	140822215	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.370000	0.07523	0.157000	0.19338	0.158000	0.16466	TAC	-	NULL		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140994549	1	no_errors	ENST00000285879	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	140994549	C	A	140994549	4	1	200	1	0	0	0	0	0	1	0	0	9182	489	17	3	1365	3	MAGEC1	23	140994549	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VA-01A-12D-A32I-09	26453425	140994549	14276011	66	15866											
FBLIM1	54751	genome.wustl.edu	37	chr1	16101426	16101426	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattataaagaatattacaGggctgggctgggcgcggtgg	15	5	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:16101426G>T	ENST00000375766.3	+	7	1530				FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.R342M|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1						cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		gaatattacagggctgggctg	0.577																																																	0								ENSG00000162458						28	36	33					1																	16101426		1209	2200	3409	FBLIM1	SO:0001627	intron_variant	0			-	HGNC		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.890+135G>T	1.37:g.16101426G>T		Somatic	0	22	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP							pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R342M	ENST00000375766.3	37	c.1025	CCDS163.1	1	.	.	.	.	.	.	.	.	.	.	G	5.809	0.333617	0.11013	.	.	ENSG00000162458	ENST00000441801	T	0.60920	0.15	0.726	-0.478	0.12093	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.09310	N	1	P	0.50272	0.933	B	0.37451	0.25	T	0.20907	-1.0261	6	.	.	.	.	.	.	.	.	342	Q8WUP2-2	.	M	342	ENSP00000416387:R342M	.	R	+	2	0	FBLIM1	15974013	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.089000	0.15002	-0.183000	0.10585	0.196000	0.17591	AGG	-	NULL		0.577	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FBLIM1	protein_coding	OTTHUMT00000008511.3	G	NM_001024215	-		16101426	1	no_errors	ENST00000441801	ensembl	human	known	74_37	missense	SNP	0.000	T	T	16101426	G	T	16101426	1	4	201	0	1	0	0	0	0	0	0	0	5699	1000	35	3		3	FBLIM1	1	16101426	Intron	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		16101426	233149195	1	15867											
AKR7A2	8574	genome.wustl.edu	37	chr1	19638441	19638441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctccagaaaggcgcgcaCggccgcggcgctggcgggcg	19	15	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:19638441C>A	ENST00000235835.3	-	1	199	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	PQLC2_ENST00000400548.2_5'Flank|PQLC2_ENST00000375155.3_5'Flank|PQLC2_ENST00000375153.3_5'Flank	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	60					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)		AAGGCGCGCACGGCCGCGGCG	0.746																																																	0								ENSG00000053371						6	8	7					1																	19638441		2137	4202	6339	AKR7A2	SO:0001583	missense	0			-	HGNC	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.178G>T	1.37:g.19638441C>A	ENSP00000235835:p.Val60Leu	Somatic	0	12	0		0.599270127213081	12	45.45	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	O75749|Q5TG63	Missense_Mutation	SNP							pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.V60L	ENST00000235835.3	37	c.178	CCDS194.1	1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135666	0.37728	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.18338	2.22;2.22	4.38	4.38	0.52667	NADP-dependent oxidoreductase domain (3);	0.070993	0.56097	D	0.000034	T	0.07999	0.0200	N	0.11427	0.14	0.45607	D	0.99854	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.15052	0.009;0.009;0.012	T	0.10382	-1.0632	10	0.02654	T	1	.	12.6797	0.56914	0.0:0.8327:0.1673:0.0	.	31;31;60	C9JSL3;B4DZX4;O43488	.;.;ARK72_HUMAN	L	60;50	ENSP00000235835:V60L;ENSP00000339084:V50L	ENSP00000235835:V60L	V	-	1	0	AKR7A2	19511028	1.000000	0.71417	0.943000	0.38184	0.369000	0.29798	2.718000	0.47236	2.165000	0.68154	0.305000	0.20034	GTG	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.746	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	protein_coding	OTTHUMT00000007165.2	C	NM_003689	-		19638441	-1	no_errors	ENST00000235835	ensembl	human	known	74_37	missense	SNP	0.994	A	A	19638441	C	A	19638441	3	1	201	1	0	0	0	0	1	0	0	0	475	536	19	3	929	3	AKR7A2	1	19638441	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	3537015	19638441	229612180	2	15868											
MYOM3	127294	genome.wustl.edu	37	chr1	24400760	24400760	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaggatgaccttggacCtggcagagagaggagagcag	15	8	1	4			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:24400760C>G	ENST00000374434.3	-	23	3021		c.e23-1		RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Splice_Site|MYOM3_ENST00000329601.7_Splice_Site|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3							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)		GACCTTGGACCTGGCAGAGAG	0.582																																																	0								ENSG00000142661						60	62	62					1																	24400760		1989	4151	6140	MYOM3	SO:0001630	splice_region_variant	0			-	HGNC	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.2859-1G>C	1.37:g.24400760C>G		Somatic	0	51	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Splice_Site	SNP							-	e22-1	ENST00000374434.3	37	c.2862-1	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223985	0.79576	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.259	0.90028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYOM3	24273347	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.120000	0.71596	2.736000	0.93811	0.655000	0.94253	.	-	-		0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	protein_coding	OTTHUMT00000008272.2	C	NM_152372	-	Intron	24400760	-1	no_errors	ENST00000330966	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	24400760	C	G	24400760	5	3	201	1	0	0	0	0	0	0	1	0	10095	695	24	4	1515	4	MYOM3	1	24400760	Splice_Site	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	4762319	24400760	224849861	3	15869											
PTPRU	10076	genome.wustl.edu	37	chr1	29602104	29602104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactacaccctgggcagcaGccacaaccagaccatccgag	8	17	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:29602104G>C	ENST00000345512.3	+	8	1418	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T	PTPRU_ENST00000428026.2_Missense_Mutation_p.S430T|PTPRU_ENST00000373779.3_Missense_Mutation_p.S430T|PTPRU_ENST00000356870.3_Missense_Mutation_p.S430T|PTPRU_ENST00000323874.8_Missense_Mutation_p.S430T|PTPRU_ENST00000460170.2_Missense_Mutation_p.S430T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	430	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGGCAGCAGCCACAACCAG	0.577																																																	0								ENSG00000060656						147	124	132					1																	29602104		2203	4300	6503	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1289G>C	1.37:g.29602104G>C	ENSP00000334941:p.Ser430Thr	Somatic	0	45	0		0.599270127213081	2	80	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	14	76.67	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S430T	ENST00000345512.3	37	c.1289	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882549	0.33255	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.33438	1.45;1.47;1.47;1.47;1.41;1.47	5.4	5.4	0.78164	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057547	0.64402	D	0.000001	T	0.23611	0.0571	N	0.22421	0.69	0.40185	D	0.977337	B;B;B;B;B	0.13145	0.007;0.007;0.007;0.004;0.004	B;B;B;B;B	0.16289	0.015;0.015;0.015;0.007;0.007	T	0.05818	-1.0862	9	.	.	.	.	18.5309	0.90992	0.0:0.0:1.0:0.0	.	430;430;430;430;430	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	430	ENSP00000334941:S430T;ENSP00000362884:S430T;ENSP00000349333:S430T;ENSP00000314987:S430T;ENSP00000392332:S430T;ENSP00000432906:S430T	.	S	+	2	0	PTPRU	29474691	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.667000	0.68067	2.695000	0.91970	0.643000	0.83706	AGC	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	G		-		29602104	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	1.000	C	C	29602104	G	C	29602104	3	2	201	1	0	0	0	0	1	0	0	0	12821	971	34	4	1319	4	PTPRU	1	29602104	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	5201344	29602104	219648517	4	15870											
JUN	3725	genome.wustl.edu	37	chr1	59248098	59248100	+	In_Frame_Del	DEL	CAT	CAT	-													agccgcgggtgctgcacgggCatctgctggggcaggtggtg							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	CAT	CAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:59248098_59248100delCAT	ENST00000371222.2	-	1	1685_1687	c.643_645delATG	c.(643-645)atgdel	p.M215del	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	215					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GCTGCACGGGCATCTGCTGGGGC	0.739			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0								ENSG00000177606																																			JUN	SO:0001651	inframe_deletion	0				HGNC	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.643_645delATG	1.37:g.59248098_59248100delCAT	ENSP00000360266:p.Met215del	Somatic	0	20	0		0.599270127213081	439	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q6FHM7|Q96G93	In_Frame_Del	DEL							pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.M215in_frame_del	ENST00000371222.2	37	c.645_643	CCDS610.1	1																																																																																			-	pfam_JNK		0.739	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	protein_coding	OTTHUMT00000023042.1	CAT	NM_002228			59248100	-1	no_errors	ENST00000371222	ensembl	human	known	74_37	in_frame_del	DEL	0.997:0.997:0.983	-	-	59248100	CAT	-	59248098	7	5	201	1	0	1	0	1	0	0	0	0	7971	710	25	0	354	0	JUN	1	59248098	In_Frame_Del	DEL	CAT	TCGA-QQ-A5VB-01A-11D-A36J-09	29645994	59248098	190002523	5	15871											
SEC22B	9554	genome.wustl.edu	37	chr1	145112520	145112520	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgaggagaagcactctcagGtatctaaaagcaatgagtct	10	8	3	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:145112520G>C	ENST00000453618.1	+	0	820							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GCACTCTCAGGTATCTAAAAG	0.403																																																	0								ENSG00000223380						153	144	147					1																	145112520		2095	4238	6333	SEC22B			0			-	HGNC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112520G>C		Somatic	0	176	0		0.599270127213081	0	100	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	175	9.79	A8K1G0	Splice_Site	SNP							-	NULL	ENST00000453618.1	37	c.NULL		1																																																																																			-	-		0.403	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	processed_transcript	OTTHUMT00000038523.5	G	NM_004892	-		145112520	1	no_errors	ENST00000453618	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	145112520	G	C	145112520	1	2	201	0	1	0	0	0	0	0	0	0	13997	1275	44	4		4	SEC22B	1	145112520	RNA	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	85864422	145112520	104138101	6	15872											
PLXNA2	5362	genome.wustl.edu	37	chr1	208391096	208391097	+	Frame_Shift_Ins	INS	-	-	A													acatagacggcccccgtcccINSttggtggacggtcaagtggt							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr1:208391096_208391097insA	ENST00000367033.3	-	2	928_929	c.171_172insT	c.(169-174)caagggfs	p.G58fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	58	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCCCCGTCCCTTGGTGGACGG	0.599																																																	0								ENSG00000076356																																			PLXNA2	SO:0001589	frameshift_variant	0				HGNC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.171_172insT	1.37:g.208391096_208391097insA	ENSP00000356000:p.Gly58fs	Somatic	0	54	0		0.599270127213081	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	51	22.73	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G57fs	ENST00000367033.3	37	c.172_171	CCDS31013.1	1																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.599	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	-	NM_025179			208391097	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	frame_shift_ins	INS	0.302:0.070	A	A	208391097	-	A	208391096	7	5	201	1	0	1	1	0	0	0	0	0	12122	681	24	0	5636	0	PLXNA2	1	208391096	Frame_Shift_Ins	INS	-	TCGA-QQ-A5VB-01A-11D-A36J-09	63278576	208391096	40859525	7	15873											
CAD	790	genome.wustl.edu	37	chr2	27455315	27455315	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccctttttctattttaGcacagagctggctgttcgca	8	11	1	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:27455315G>T	ENST00000403525.1	+	17	2600		c.e17-1		CAD_ENST00000464159.1_Splice_Site|CAD_ENST00000264705.4_Splice_Site			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase						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)					TTCTATTTTAGCACAGAGCTG	0.512																																																	0								ENSG00000084774						53	50	51					2																	27455315		2203	4300	6503	CAD	SO:0001630	splice_region_variant	0			-	HGNC	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.2457-1G>T	2.37:g.27455315G>T		Somatic	0	21	0		0.599270127213081	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Splice_Site	SNP							-	e18-1	ENST00000403525.1	37	c.2646-1		2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670245	0.67814	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8357	0.88696	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAD	27308819	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	8.683000	0.91236	2.797000	0.96272	0.650000	0.86243	.	-	-		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	G		-	Intron	27455315	1	no_errors	ENST00000264705	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	27455315	G	T	27455315	5	4	201	1	0	0	0	0	0	0	1	0	2567	985	34	3	2715	3	CAD	2	27455315	Splice_Site	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		27455315	215744058	8	15874											
B3GNT2	10678	genome.wustl.edu	37	chr2	62449968	62449968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatttgagagtgagaagCaccaagacattcttatgtgg	11	5	1	4			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:62449968C>T	ENST00000301998.4	+	2	865	c.613C>T	c.(613-615)Cac>Tac	p.H205Y	B3GNT2_ENST00000405767.1_Missense_Mutation_p.H205Y	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	205					axon guidance (GO:0007411)|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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.H205Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAGTGAGAAGCACCAAGACAT	0.502																																																	1	Substitution - Missense(1)	pancreas(1)						ENSG00000170340						66	61	63					2																	62449968		2203	4300	6503	B3GNT2	SO:0001583	missense	0			-	HGNC	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.613C>T	2.37:g.62449968C>T	ENSP00000305595:p.His205Tyr	Somatic	0	29	0		0.599270127213081	9	65.38	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	26	38.10	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP							pfam_Glyco_trans_31	p.H205Y	ENST00000301998.4	37	c.613	CCDS1870.1	2	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217579	0.22373	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.30714	1.52;1.52	5.74	4.86	0.63082	.	0.044035	0.85682	D	0.000000	T	0.16471	0.0396	N	0.12853	0.265	0.80722	D	1	B	0.18013	0.025	B	0.22880	0.042	T	0.04708	-1.0932	10	0.02654	T	1	.	15.1674	0.72840	0.0:0.9314:0.0:0.0686	.	205	Q9NY97	B3GN2_HUMAN	Y	205	ENSP00000305595:H205Y;ENSP00000384692:H205Y	ENSP00000305595:H205Y	H	+	1	0	B3GNT2	62303472	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.894000	0.56250	2.712000	0.92718	0.650000	0.86243	CAC	-	pfam_Glyco_trans_31		0.502	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT2	protein_coding	OTTHUMT00000251606.2	C	NM_006577	-		62449968	1	no_errors	ENST00000301998	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62449968	C	T	62449968	3	4	201	1	0	0	0	0	1	0	0	0	1257	710	25	2	615	2	B3GNT2	2	62449968	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	34994653	62449968	180749405	9	15875											
C2orf65	130951	genome.wustl.edu	37	chr2	74834340	74834340	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttccaggctgagaagtcAgaatagtaatctgaaaataa	8	6	2	3			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:74834340A>T	ENST00000290536.5	-	4	553	c.437T>A	c.(436-438)cTg>cAg	p.L146Q	M1AP_ENST00000536235.1_Missense_Mutation_p.L146Q|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.L146Q	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	146					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CTGAGAAGTCAGAATAGTAAT	0.438																																																	0								ENSG00000159374						112	109	110					2																	74834340		2203	4300	6503	M1AP	SO:0001583	missense	0			-	HGNC		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.437T>A	2.37:g.74834340A>T	ENSP00000290536:p.Leu146Gln	Somatic	0	54	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP							NULL	p.L146Q	ENST00000290536.5	37	c.437	CCDS33229.1	2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261989	0.80358	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.54279	0.58;0.58;0.58	5.98	5.98	0.97165	.	0.159488	0.44285	D	0.000469	T	0.69958	0.3169	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.73049	-0.4105	10	0.87932	D	0	-5.8058	12.8646	0.57932	1.0:0.0:0.0:0.0	.	146;146;146	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	Q	146	ENSP00000290536:L146Q;ENSP00000386793:L146Q;ENSP00000445662:L146Q	ENSP00000290536:L146Q	L	-	2	0	C2orf65	74687848	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.592000	0.67543	2.296000	0.77279	0.482000	0.46254	CTG	-	NULL		0.438	M1AP-001	KNOWN	basic|CCDS	protein_coding	M1AP	protein_coding	OTTHUMT00000328569.1	A	NM_138804	-		74834340	-1	no_errors	ENST00000290536	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74834340	A	T	74834340	3	4	201	1	0	0	0	0	1	0	0	0	2186	188	7	5	1187	5	C2orf65	2	74834340	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	12384372	74834340	168365033	10	15876											
THSD7B	80731	genome.wustl.edu	37	chr2	138373835	138373835	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaagactcacaggtgCagccttgcctcctgaatgaa	11	11	1	4			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:138373835C>T	ENST00000409968.1	+	18	3692	c.3514C>T	c.(3514-3516)Cag>Tag	p.Q1172*	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.Q1175*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.Q1144*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1174	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCACAGGTGCAGCCTTGCCT	0.438																																																	0								ENSG00000144229						169	180	177					2																	138373835		2098	4223	6321	THSD7B	SO:0001587	stop_gained	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3514C>T	2.37:g.138373835C>T	ENSP00000387145:p.Gln1172*	Somatic	0	39	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Nonsense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Q1175*	ENST00000409968.1	37	c.3523		2	.	.	.	.	.	.	.	.	.	.	C	42	9.770890	0.99260	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.2	4.3	0.51218	.	0.582307	0.19276	N	0.118295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	9.7545	0.40496	0.1587:0.6881:0.1532:0.0	.	.	.	.	X	1172;1175;1144	.	ENSP00000272643:Q1175X	Q	+	1	0	THSD7B	138090305	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.014000	0.40951	1.379000	0.46325	0.650000	0.86243	CAG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.438	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9	-		138373835	1	no_errors	ENST00000272643	ensembl	human	known	74_37	nonsense	SNP	0.993	T	T	138373835	C	T	138373835	4	4	201	1	0	0	0	0	0	1	0	0	15887	711	25	2	3492	2	THSD7B	2	138373835	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	63539495	138373835	104825538	11	15877											
LRP1B	53353	genome.wustl.edu	37	chr2	141660728	141660728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccattgttcagcgaaCactcatctataaaaaggggg	9	10	3	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:141660728C>T	ENST00000389484.3	-	23	4498	c.3527G>A	c.(3526-3528)tGt>tAt	p.C1176Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1176	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GTTCAGCGAACACTCATCTAT	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						73	64	67					2																	141660728		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.3527G>A	2.37:g.141660728C>T	ENSP00000374135:p.Cys1176Tyr	Somatic	0	20	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C1176Y	ENST00000389484.3	37	c.3527	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367376	0.61513	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99966	-10.09;-10.09	5.43	5.43	0.79202	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99984	0.9995	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.99712	1.1007	10	0.59425	D	0.04	.	19.6188	0.95647	0.0:1.0:0.0:0.0	.	359;1176	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Y	1176;1114;321	ENSP00000374135:C1176Y;ENSP00000413239:C321Y	ENSP00000374135:C1176Y	C	-	2	0	LRP1B	141377198	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.722000	0.84778	2.699000	0.92147	0.650000	0.86243	TGT	-	smart_EG-like_dom		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		141660728	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141660728	C	T	141660728	3	4	201	1	0	0	0	0	1	0	0	0	8957	478	17	2	10548	2	LRP1B	2	141660728	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	3286893	141660728	101538645	12	15878											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217343021	217343021	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccactgattacctctacaAggtaatgccagcacatggct	7	12	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:217343021A>G	ENST00000357276.4	+	17	2954	c.2624A>G	c.(2623-2625)aAg>aGg	p.K875R	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Splice_Site_p.K875R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	875					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TACCTCTACAAGGTAATGCCA	0.483									Schimke Immuno-Osseous Dysplasia																																								0								ENSG00000138375						81	85	84					2																	217343021		2203	4300	6503	SMARCAL1	SO:0001630	splice_region_variant	0	Familial Cancer Database	SIOD	-	HGNC	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2625+1A>G	2.37:g.217343021A>G		Somatic	0	40	0		0.599270127213081	22	4.35	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	14	63.16	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP							pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K875R	ENST00000357276.4	37	c.2624	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622589	0.46840	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.86366	-2.11;-2.11;-1.0	5.23	5.23	0.72850	.	0.193434	0.43747	D	0.000528	D	0.84902	0.5575	L	0.59436	1.845	0.43263	D	0.995201	B	0.24882	0.113	B	0.23018	0.043	T	0.82804	-0.0276	10	0.49607	T	0.09	-22.9374	14.4586	0.67433	1.0:0.0:0.0:0.0	.	875	Q9NZC9	SMAL1_HUMAN	R	875;875;717	ENSP00000349823:K875R;ENSP00000350940:K875R;ENSP00000375974:K717R	ENSP00000349823:K875R	K	+	2	0	SMARCAL1	217051266	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	5.737000	0.68606	2.194000	0.70268	0.533000	0.62120	AAG	-	superfamily_P-loop_NTPase		0.483	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	A		-	Missense_Mutation	217343021	1	no_errors	ENST00000357276	ensembl	human	known	74_37	missense	SNP	1.000	G	G	217343021	A	G	217343021	5	3	201	1	0	0	0	0	0	0	1	0	14781	86	3	5	2682	5	SMARCAL1	2	217343021	Splice_Site	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	75682293	217343021	25856352	13	15879											
STK36	27148	genome.wustl.edu	37	chr2	219561892	219561892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggagctttcgctatccaGtccaccaagccctgagccag	11	14	0	1	rs375090724		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:219561892G>A	ENST00000295709.3	+	23	2996	c.2717G>A	c.(2716-2718)aGt>aAt	p.S906N	STK36_ENST00000392105.3_Missense_Mutation_p.S885N|STK36_ENST00000392106.2_Missense_Mutation_p.S885N|STK36_ENST00000440309.1_Missense_Mutation_p.S906N	NM_015690.4	NP_056505.2			serine/threonine kinase 36											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)		TCGCTATCCAGTCCACCAAGC	0.532																																																	0								ENSG00000163482						111	115	114					2																	219561892		2203	4300	6503	STK36	SO:0001583	missense	0			-	HGNC	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.2717G>A	2.37:g.219561892G>A	ENSP00000295709:p.Ser906Asn	Somatic	0	29	0		0.599270127213081	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S906N	ENST00000295709.3	37	c.2717	CCDS2421.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.145565|-2.145565	0.00332|0.00332	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309|ENST00000431040	T;T;T;T|.	0.71461|.	-0.52;-0.56;-0.57;-0.52|.	5.02|5.02	0.0563|0.0563	0.14319|0.14319	.|.	0.279809|.	0.25514|.	N|.	0.030160|.	T|T	0.22820|0.22820	0.0551|0.0551	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.23735|.	0.09;0.082;0.002|.	B;B;B|.	0.26416|.	0.034;0.069;0.003|.	T|T	0.28170|0.28170	-1.0052|-1.0052	10|5	0.28530|.	T|.	0.3|.	3.9809|3.9809	6.4372|6.4372	0.21829|0.21829	0.2873:0.0:0.5925:0.1202|0.2873:0.0:0.5925:0.1202	.|.	885;885;906|.	A8MU99;Q9NRP7-2;Q9NRP7|.	.;.;STK36_HUMAN|.	N|I	906;885;885;906|99	ENSP00000295709:S906N;ENSP00000375955:S885N;ENSP00000375954:S885N;ENSP00000394095:S906N|.	ENSP00000295709:S906N|.	S|V	+|+	2|1	0|0	STK36|STK36	219270136|219270136	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.372000|0.372000	0.20467|0.20467	-0.433000|-0.433000	0.07286|0.07286	-0.797000|-0.797000	0.03246|0.03246	AGT|GTC	-	NULL		0.532	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	protein_coding	OTTHUMT00000256723.2	G		-		219561892	1	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	SNP	0.000	A	A	219561892	G	A	219561892	3	1	201	1	0	0	0	0	1	0	0	0	15309	1029	36	2	2803	2	STK36	2	219561892	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	2218871	219561892	23637481	14	15880											
CHPF	79586	genome.wustl.edu	37	chr2	220405754	220405754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatgtgcacagggtcacGcacagggtgggctgtcaggg	17	9	2	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:220405754G>A	ENST00000243776.6	-	3	1230	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.R166C|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	328					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACAGGGTCACGCACAGGGTGG	0.602																																																	0								ENSG00000123989						87	70	76					2																	220405754		2203	4300	6503	CHPF	SO:0001583	missense	0			-	HGNC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.982C>T	2.37:g.220405754G>A	ENSP00000243776:p.Arg328Cys	Somatic	0	72	0		0.599270127213081	805	33	397	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP							pfam_Chond_GalNAc	p.R328C	ENST00000243776.6	37	c.982	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883049	0.51908	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15834	2.39;2.39	4.63	3.68	0.42216	.	0.802027	0.11649	N	0.542939	T	0.22551	0.0544	L	0.34521	1.04	0.09310	N	0.999995	P	0.42518	0.782	P	0.49140	0.601	T	0.09975	-1.0650	10	0.39692	T	0.17	0.0	14.8615	0.70384	0.0:0.0:0.8564:0.1436	.	328	Q8IZ52	CHSS2_HUMAN	C	328;166	ENSP00000243776:R328C;ENSP00000445571:R166C	ENSP00000243776:R328C	R	-	1	0	CHPF	220113998	0.113000	0.22115	0.687000	0.30102	0.943000	0.58893	1.335000	0.33839	2.575000	0.86900	0.655000	0.94253	CGT	-	pfam_Chond_GalNAc		0.602	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	protein_coding	OTTHUMT00000130268.1	G	NM_024536	-		220405754	-1	no_errors	ENST00000243776	ensembl	human	known	74_37	missense	SNP	0.078	A	A	220405754	G	A	220405754	3	1	201	1	0	0	0	0	1	0	0	0	3370	1087	38	1	1353	1	CHPF	2	220405754	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	843862	220405754	22793619	15	15881											
SPHKAP	80309	genome.wustl.edu	37	chr2	228855866	228855866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accagcaggctcctctggggGctggctgttcccgtaggcgg	16	13	1	0	rs16824283	byFrequency	TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr2:228855866G>T	ENST00000392056.3	-	11	4855	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1574R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1603			S -> R (in dbSNP:rs16824283).			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)		TCCTCTGGGGGCTGGCTGTTC	0.577																																																	0								ENSG00000153820						43	45	44					2																	228855866		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.4809C>A	2.37:g.228855866G>T	ENSP00000375909:p.Ser1603Arg	Somatic	0	33	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.S1603R	ENST00000392056.3	37	c.4809	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759335	0.31137	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06608	3.28;3.28	6.17	-2.19	0.07015	A-kinase anchor 110kDa, C-terminal (1);	0.300797	0.43919	D	0.000501	T	0.11965	0.0291	L	0.48362	1.52	0.80722	P	0.0	D;P	0.54397	0.966;0.935	P;P	0.55923	0.787;0.613	T	0.01657	-1.1302	9	0.59425	D	0.04	.	13.8991	0.63792	0.6506:0.0:0.3494:0.0	.	1603;1574	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	1603;1574	ENSP00000375909:S1603R;ENSP00000339886:S1574R	ENSP00000339886:S1574R	S	-	3	2	SPHKAP	228564110	0.088000	0.21588	0.000000	0.03702	0.090000	0.18270	0.210000	0.17455	-0.511000	0.06514	-0.137000	0.14449	AGC	-	pfam_AKAP_110_C		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	G	NM_030623	-		228855866	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.000	T	T	228855866	G	T	228855866	3	4	201	1	0	0	0	0	1	0	0	0	15055	1194	42	3	301	3	SPHKAP	2	228855866	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	8450112	228855866	14343507	16	15882											
CCR4	1233	genome.wustl.edu	37	chr3	32995907	32995907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgtgctctgccaataCtgtgggctcctccaaattta	7	11	1	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr3:32995907C>T	ENST00000330953.5	+	2	1161	c.993C>T	c.(991-993)taC>taT	p.Y331Y		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	331					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCTGCCAATACTGTGGGCTCC	0.463																																																	0								ENSG00000183813						53	55	54					3																	32995907		2200	4300	6500	CCR4	SO:0001819	synonymous_variant	0			-	HGNC	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.993C>T	3.37:g.32995907C>T		Somatic	0	29	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q9ULY6|Q9ULY7	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.Y331	ENST00000330953.5	37	c.993	CCDS2656.1	3																																																																																			-	prints_Chemokine_CCR4		0.463	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	protein_coding	OTTHUMT00000253252.2	C		-		32995907	1	no_errors	ENST00000330953	ensembl	human	known	74_37	silent	SNP	0.627	T	T	32995907	C	T	32995907	2	4	201	1	0	0	0	0	0	0	0	1	2945	576	20	2		2	CCR4	3	32995907	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09		32995907	165026523	17	15883											
CCR3	1232	genome.wustl.edu	37	chr3	46306890	46306890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctggccatttcggacCtgctcttcctcgtcaccctt	6	17	3	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr3:46306890C>T	ENST00000357422.2	+	4	784	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	CCR3_ENST00000395940.2_Silent_p.L81L|CCR3_ENST00000541018.1_Silent_p.L81L|CCR3_ENST00000545097.1_Silent_p.L102L|CCR3_ENST00000395942.2_Silent_p.L81L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	81				LL -> QG (in Ref. 7; AAL85630). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATTTCGGACCTGCTCTTCCT	0.507																																																	0								ENSG00000183625						187	161	170					3																	46306890		2203	4300	6503	CCR3	SO:0001819	synonymous_variant	0			-	HGNC	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.241C>T	3.37:g.46306890C>T		Somatic	0	21	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.L102	ENST00000357422.2	37	c.304	CCDS2738.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	protein_coding	OTTHUMT00000257380.2	C		-		46306890	1	no_errors	ENST00000545097	ensembl	human	known	74_37	silent	SNP	0.999	T	T	46306890	C	T	46306890	2	4	201	1	0	0	0	0	0	0	0	1	2944	680	24	2		2	CCR3	3	46306890	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	13310983	46306890	151715540	18	15884											
WNT5A	7474	genome.wustl.edu	37	chr3	55514826	55514826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaccaccaagaattggCttcaattacaacctgggcga	7	11	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr3:55514826C>T	ENST00000474267.1	-	3	648	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	WNT5A_ENST00000497027.1_Missense_Mutation_p.A28T|WNT5A_ENST00000264634.4_Missense_Mutation_p.A43T			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	43					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CAAGAATTGGCTTCAATTACA	0.413																																																	0								ENSG00000114251						56	55	55					3																	55514826		1867	4106	5973	WNT5A	SO:0001583	missense	0			-	HGNC	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.127G>A	3.37:g.55514826C>T	ENSP00000417310:p.Ala43Thr	Somatic	0	46	0		0.599270127213081	7	80.56	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	46.94	A8K4A4|Q6P278	Missense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt	p.A43T	ENST00000474267.1	37	c.127	CCDS46850.1	3	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494264	0.44352	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000497027;ENST00000442038;ENST00000482079	T;T;T;D	0.84660	-1.01;-1.01;-1.0;-1.88	5.91	5.91	0.95273	.	0.843002	0.10102	N	0.715819	D	0.84106	0.5399	L	0.43152	1.355	0.48087	D	0.999587	B	0.15141	0.012	B	0.14578	0.011	T	0.72516	-0.4269	10	0.45353	T	0.12	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	43	P41221	WNT5A_HUMAN	T	43;43;28;43;28	ENSP00000417310:A43T;ENSP00000264634:A43T;ENSP00000420104:A28T;ENSP00000418184:A28T	ENSP00000264634:A43T	A	-	1	0	WNT5A	55489866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.109000	0.57824	2.793000	0.96121	0.655000	0.94253	GCC	-	NULL		0.413	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5A	protein_coding	OTTHUMT00000350793.3	C	NM_003392	-		55514826	-1	no_errors	ENST00000264634	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55514826	C	T	55514826	3	4	201	1	0	0	0	0	1	0	0	0	17398	797	28	2	1031	2	WNT5A	3	55514826	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	9207936	55514826	142507604	19	15885											
MYH15	22989	genome.wustl.edu	37	chr3	108158631	108158631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgctttgctcaggctgcTgagcttctcctcctccatgt	8	13	2	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr3:108158631T>C	ENST00000273353.3	-	25	3144	c.3088A>G	c.(3088-3090)Agc>Ggc	p.S1030G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1030						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						CTCAGGCTGCTGAGCTTCTCC	0.468																																																	0								ENSG00000144821						181	187	185					3																	108158631		2193	4297	6490	MYH15	SO:0001583	missense	0			-	HGNC	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.3088A>G	3.37:g.108158631T>C	ENSP00000273353:p.Ser1030Gly	Somatic	0	47	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33		Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.S1030G	ENST00000273353.3	37	c.3088	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442520	0.43326	.	.	ENSG00000144821	ENST00000273353	D	0.87571	-2.27	5.43	-3.52	0.04682	.	.	.	.	.	T	0.82148	0.4974	L	0.56769	1.78	0.25310	N	0.989203	B	0.29936	0.262	B	0.29524	0.103	T	0.72896	-0.4153	9	0.87932	D	0	.	9.0872	0.36587	0.0:0.1222:0.474:0.4038	.	1030	Q9Y2K3	MYH15_HUMAN	G	1030	ENSP00000273353:S1030G	ENSP00000273353:S1030G	S	-	1	0	MYH15	109641321	1.000000	0.71417	0.000000	0.03702	0.008000	0.06430	1.937000	0.40193	-0.359000	0.08150	-1.272000	0.01410	AGC	-	NULL		0.468	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	T	XM_036988	-		108158631	-1	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	SNP	0.650	C	C	108158631	T	C	108158631	3	2	201	1	0	0	0	0	1	0	0	0	10036	1580	55	5	2824	5	MYH15	3	108158631	Missense_Mutation	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09	52643805	108158631	89863799	20	15886											
ZBTB38	253461	genome.wustl.edu	37	chr3	141162834	141162834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatatactcaaaaatcatcAgaagtctttccatgccatcg	4	11	4	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr3:141162834A>G	ENST00000514251.1	+	4	1883	c.1604A>G	c.(1603-1605)cAg>cGg	p.Q535R	ZBTB38_ENST00000321464.5_Missense_Mutation_p.Q536R|ZBTB38_ENST00000441582.2_Missense_Mutation_p.Q535R					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAAAATCATCAGAAGTCTTTC	0.378																																																	0								ENSG00000177311						68	64	65					3																	141162834		1861	4096	5957	ZBTB38	SO:0001583	missense	0			-	HGNC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1604A>G	3.37:g.141162834A>G	ENSP00000426387:p.Gln535Arg	Somatic	0	40	0		0.599270127213081	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00		Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q536R	ENST00000514251.1	37	c.1607	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109455	0.77096	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.10005	3.37;2.92;2.92;2.92	5.39	5.39	0.77823	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	0.31231	0.0790	M	0.68593	2.085	0.47698	D	0.999493	D;D	0.71674	0.998;0.998	D;D	0.78314	0.988;0.991	T	0.01440	-1.1354	9	.	.	.	-24.3094	15.4254	0.75045	1.0:0.0:0.0:0.0	.	536;535	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	R	535;535;535;536	ENSP00000424254:Q535R;ENSP00000426387:Q535R;ENSP00000406955:Q535R;ENSP00000372635:Q536R	.	Q	+	2	0	ZBTB38	142645524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.152000	0.77419	2.058000	0.61347	0.528000	0.53228	CAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	protein_coding	OTTHUMT00000359329.2	A		-		141162834	1	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	SNP	1.000	G	G	141162834	A	G	141162834	3	3	201	1	0	0	0	0	1	0	0	0	17546	188	7	5	1606	5	ZBTB38	3	141162834	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	33004203	141162834	56859596	21	15887											
SI	6476	genome.wustl.edu	37	chr3	164700196	164700196	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatatagtgcttgttaaggtGgtctataaataaagaaaaag	9	2	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr3:164700196G>T	ENST00000264382.3	-	47	5312	c.5250C>A	c.(5248-5250)acC>acA	p.T1750T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1750	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)	TTGTTAAGGTGGTCTATAAAT	0.318										HNSCC(35;0.089)																																							0								ENSG00000090402						88	86	87					3																	164700196		2202	4300	6502	SI	SO:0001819	synonymous_variant	0			-	HGNC	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.5250C>A	3.37:g.164700196G>T		Somatic	0	40	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.T1750	ENST00000264382.3	37	c.5250	CCDS3196.1	3																																																																																			-	NULL		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	G	NM_001041	-		164700196	-1	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	SNP	0.001	T	T	164700196	G	T	164700196	2	4	201	1	0	0	0	0	0	0	0	1	14305	1335	47	3		3	SI	3	164700196	Silent	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	23537362	164700196	33322234	22	15888											
CLNK	116449	genome.wustl.edu	37	chr4	10542196	10542196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccggctcagggggcaagGgttggtacttcttcggaagt	15	9	3	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr4:10542196G>T	ENST00000226951.6	-	11	763	c.524C>A	c.(523-525)cCc>cAc	p.P175H	CLNK_ENST00000507719.1_Missense_Mutation_p.P133H|CLNK_ENST00000442825.2_Missense_Mutation_p.P133H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	175	Pro-rich.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGGGGCAAGGGTTGGTACTT	0.537																																					GBM(87;402 1286 6949 13902 35851)												0								ENSG00000109684						77	81	80					4																	10542196		2012	4187	6199	CLNK	SO:0001583	missense	0			-	HGNC	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.524C>A	4.37:g.10542196G>T	ENSP00000226951:p.Pro175His	Somatic	0	82	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	50	41.18	Q05C27|Q9P2U9	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P175H	ENST00000226951.6	37	c.524	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024029	0.54683	.	.	ENSG00000109684	ENST00000226951;ENST00000442825;ENST00000507719	T;T;T	0.68624	1.29;-0.34;-0.34	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000007	T	0.74861	0.3772	L	0.36672	1.1	0.39121	D	0.961658	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.77760	-0.2467	10	0.72032	D	0.01	-16.7434	15.4761	0.75481	0.0:0.0:1.0:0.0	.	133;175	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	H	175;133;133	ENSP00000226951:P175H;ENSP00000390744:P133H;ENSP00000427208:P133H	ENSP00000226951:P175H	P	-	2	0	CLNK	10151294	1.000000	0.71417	0.982000	0.44146	0.220000	0.24768	4.515000	0.60489	2.713000	0.92767	0.655000	0.94253	CCC	-	NULL		0.537	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	protein_coding	OTTHUMT00000359047.1	G	NM_052964	-		10542196	-1	no_errors	ENST00000226951	ensembl	human	known	74_37	missense	SNP	0.993	T	T	10542196	G	T	10542196	3	4	201	1	0	0	0	0	1	0	0	0	3549	1232	43	3	798	3	CLNK	4	10542196	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		10542196	180612080	23	15889											
WDFY3	23001	genome.wustl.edu	37	chr4	85731189	85731189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggaagacattcatggcGcttatttttcttaggtctga	12	6	3	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr4:85731189G>A	ENST00000295888.4	-	14	2603	c.2196C>T	c.(2194-2196)agC>agT	p.S732S	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Silent_p.S732S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	732					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATTCATGGCGCTTATTTTTC	0.423																																																	0								ENSG00000163625						149	145	147					4																	85731189		2203	4300	6503	WDFY3	SO:0001819	synonymous_variant	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2196C>T	4.37:g.85731189G>A		Somatic	0	65	0		0.599270127213081	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S732	ENST00000295888.4	37	c.2196	CCDS3609.1	4																																																																																			-	superfamily_ARM-type_fold		0.423	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	G	NM_014991	-		85731189	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	SNP	0.999	A	A	85731189	G	A	85731189	2	1	201	1	0	0	0	0	0	0	0	1	17277	1078	38	1		1	WDFY3	4	85731189	Silent	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	75188993	85731189	105423087	24	15890											
LRBA	987	genome.wustl.edu	37	chr4	151829832	151829832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcatgagtgcatgtgGtgaatgaacaaaaattgaag	13	4	0	4			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr4:151829832G>A	ENST00000357115.3	-	10	1582	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S	LRBA_ENST00000510413.1_Missense_Mutation_p.P447S|LRBA_ENST00000535741.1_Missense_Mutation_p.P447S|LRBA_ENST00000507224.1_Missense_Mutation_p.P447S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	447						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)					AGTGCATGTGGTGAATGAACA	0.388																																																	0								ENSG00000198589						148	139	142					4																	151829832		2203	4300	6503	LRBA	SO:0001583	missense	0			-	HGNC	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.1339C>T	4.37:g.151829832G>A	ENSP00000349629:p.Pro447Ser	Somatic	0	48	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.P447S	ENST00000357115.3	37	c.1339	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490966	0.84962	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.76130	-0.3072	10	0.32370	T	0.25	.	19.7083	0.96083	0.0:0.0:1.0:0.0	.	447;447;447	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	S	447	ENSP00000446299:P447S;ENSP00000421552:P447S;ENSP00000349629:P447S;ENSP00000422180:P447S	ENSP00000349629:P447S	P	-	1	0	LRBA	152049282	1.000000	0.71417	0.967000	0.41034	0.977000	0.68977	9.809000	0.99208	2.726000	0.93360	0.563000	0.77884	CCA	-	NULL		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	G		-		151829832	-1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	SNP	1.000	A	A	151829832	G	A	151829832	3	1	201	1	0	0	0	0	1	0	0	0	8933	1261	44	2	7448	2	LRBA	4	151829832	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	66098643	151829832	39324444	25	15891											
SORBS2	8470	genome.wustl.edu	37	chr4	186544971	186544971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcggtggttctagggttaCgggagacagcatgtcatccc	14	9	2	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr4:186544971C>T	ENST00000284776.7	-	13	2109	c.1600G>A	c.(1600-1602)Gta>Ata	p.V534I	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.V438I|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.V534I|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.V634I|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	534					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)		TCTAGGGTTACGGGAGACAGC	0.542																																					Esophageal Squamous(153;41 2433 9491 36028)												0								ENSG00000154556						76	69	72					4																	186544971		2203	4300	6503	SORBS2	SO:0001583	missense	0			-	HGNC		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.1600G>A	4.37:g.186544971C>T	ENSP00000284776:p.Val534Ile	Somatic	0	18	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.V534I	ENST00000284776.7	37	c.1600	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.956246	0.00470	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35421	1.41;1.41;1.31;1.41	5.88	-1.36	0.09085	.	0.477787	0.22867	N	0.054670	T	0.14830	0.0358	N	0.16478	0.41	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.34527	-0.9825	10	0.02654	T	1	-2.105	7.5849	0.27987	0.097:0.4898:0.0:0.4132	.	438;634;534	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	I	534;534;438;634	ENSP00000284776:V534I;ENSP00000411764:V534I;ENSP00000397482:V438I;ENSP00000347852:V634I	ENSP00000284776:V534I	V	-	1	0	SORBS2	186781965	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.113000	0.15499	-0.704000	0.05042	0.561000	0.74099	GTA	-	NULL		0.542	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	C	NM_003603	-		186544971	-1	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	SNP	0.000	T	T	186544971	C	T	186544971	3	4	201	1	0	0	0	0	1	0	0	0	14936	536	19	1	1738	1	SORBS2	4	186544971	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	34715139	186544971	4609305	26	15892											
SLC6A19	340024	genome.wustl.edu	37	chr5	1217031	1217031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcagctggtgttccagAcctgcgacatcaacgccttc	10	15	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:1217031A>G	ENST00000304460.10	+	8	1200	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	382					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGTTCCAGACCTGCGACAT	0.647																																																	0								ENSG00000174358						135	129	131					5																	1217031		2203	4300	6503	SLC6A19	SO:0001583	missense	0			-	HGNC	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1144A>G	5.37:g.1217031A>G	ENSP00000305302:p.Thr382Ala	Somatic	0	37	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K446	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T382A	ENST00000304460.10	37	c.1144	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724646	0.30593	.	.	ENSG00000174358	ENST00000304460	T	0.73152	-0.72	4.85	4.85	0.62838	.	0.578057	0.19119	N	0.122232	T	0.63271	0.2497	L	0.48877	1.53	0.41849	D	0.990161	B	0.16166	0.016	B	0.25405	0.06	T	0.57441	-0.7811	10	0.14656	T	0.56	.	12.982	0.58570	1.0:0.0:0.0:0.0	.	382	Q695T7	S6A19_HUMAN	A	382	ENSP00000305302:T382A	ENSP00000305302:T382A	T	+	1	0	SLC6A19	1270031	0.977000	0.34250	1.000000	0.80357	0.687000	0.40016	1.493000	0.35605	1.817000	0.53016	0.402000	0.26972	ACC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.647	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	protein_coding	OTTHUMT00000365557.1	A	XM_291120	-		1217031	1	no_errors	ENST00000304460	ensembl	human	known	74_37	missense	SNP	1.000	G	G	1217031	A	G	1217031	3	3	201	1	0	0	0	0	1	0	0	0	14690	275	10	5	1174	5	SLC6A19	5	1217031	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09		1217031	179698229	27	15893											
C9	735	genome.wustl.edu	37	chr5	39308430	39308430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatccagatgatacccaAggcatctctttatgtctttt	5	10	2	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:39308430A>G	ENST00000263408.4	-	8	1237	c.1142T>C	c.(1141-1143)cTt>cCt	p.L381P		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	381	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATGATACCCAAGGCATCTCTT	0.343																																																	0								ENSG00000113600						116	113	114					5																	39308430		2203	4300	6503	C9	SO:0001583	missense	0			-	HGNC		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1142T>C	5.37:g.39308430A>G	ENSP00000263408:p.Leu381Pro	Somatic	0	43	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.L381P	ENST00000263408.4	37	c.1142	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192078	0.38707	.	.	ENSG00000113600	ENST00000263408	D	0.85861	-2.04	5.46	5.46	0.80206	Membrane attack complex component/perforin (MACPF) domain (3);	0.146099	0.47093	D	0.000259	D	0.92224	0.7534	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92946	0.6376	10	0.62326	D	0.03	-24.678	12.913	0.58190	1.0:0.0:0.0:0.0	.	381	P02748	CO9_HUMAN	P	381	ENSP00000263408:L381P	ENSP00000263408:L381P	L	-	2	0	C9	39344187	0.998000	0.40836	0.973000	0.42090	0.019000	0.09904	4.935000	0.63498	2.073000	0.62155	0.482000	0.46254	CTT	-	pfam_MACPF,smart_MACPF		0.343	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	protein_coding	OTTHUMT00000211576.3	A		-		39308430	-1	no_errors	ENST00000263408	ensembl	human	known	74_37	missense	SNP	0.999	G	G	39308430	A	G	39308430	3	3	201	1	0	0	0	0	1	0	0	0	2445	72	3	5	553	5	C9	5	39308430	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	38091399	39308430	141606830	28	15894											
ZNF366	167465	genome.wustl.edu	37	chr5	71757176	71757176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaactgggaaaatggccCtcggagagcttccgggaagg	15	10	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:71757176C>T	ENST00000318442.5	-	2	638	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	50					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GAAAATGGCCCTCGGAGAGCT	0.602																																																	0								ENSG00000178175						50	55	53					5																	71757176		2203	4300	6503	ZNF366	SO:0001583	missense	0			-	HGNC	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.148G>A	5.37:g.71757176C>T	ENSP00000313158:p.Gly50Arg	Somatic	0	49	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q5HYI9|Q7RTV4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G50R	ENST00000318442.5	37	c.148	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032673	0.35893	.	.	ENSG00000178175	ENST00000318442;ENST00000414109	T;T	0.44083	0.93;0.93	5.7	5.7	0.88788	.	0.272821	0.32081	N	0.006620	T	0.27866	0.0686	L	0.29908	0.895	0.09310	N	1	P	0.41947	0.766	B	0.37198	0.243	T	0.36866	-0.9730	10	0.66056	D	0.02	-38.8101	6.8502	0.24010	0.0:0.7132:0.1657:0.1211	.	50	Q8N895	ZN366_HUMAN	R	50	ENSP00000313158:G50R;ENSP00000391333:G50R	ENSP00000313158:G50R	G	-	1	0	ZNF366	71792932	0.000000	0.05858	0.998000	0.56505	0.888000	0.51559	0.299000	0.19138	2.695000	0.91970	0.561000	0.74099	GGG	-	NULL		0.602	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	protein_coding	OTTHUMT00000218574.3	C		-		71757176	-1	no_errors	ENST00000318442	ensembl	human	known	74_37	missense	SNP	0.145	T	T	71757176	C	T	71757176	3	4	201	1	0	0	0	0	1	0	0	0	17877	681	24	2	2102	2	ZNF366	5	71757176	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	32448746	71757176	109158084	29	15895											
PCDHA2	56146	genome.wustl.edu	37	chr5	140175282	140175285	+	Frame_Shift_Del	DEL	TCAG	TCAG	-													atgaaccaacttttgcccaaTcagtttacaaagtaaaattg							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	TCAG	TCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:140175282_140175285delTCAG	ENST00000526136.1	+	1	733_736	c.733_736delTCAG	c.(733-738)tcagttfs	p.SV245fs	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Frame_Shift_Del_p.SV245fs|PCDHA2_ENST00000378132.1_Frame_Shift_Del_p.SV245fs|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	245	Cadherin 3. {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(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCCCAATCAGTTTACAAAGT	0.417																																																	0								ENSG00000204969																																			PCDHA2	SO:0001589	frameshift_variant	0				HGNC	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.733_736delTCAG	5.37:g.140175282_140175285delTCAG	ENSP00000431748:p.Ser245fs	Somatic	0	30	0		0.599270127213081	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	O75287|Q9BTV3	Frame_Shift_Del	DEL							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S245fs	ENST00000526136.1	37	c.733_736	CCDS54914.1	5																																																																																			-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.417	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	protein_coding	OTTHUMT00000372877.3	TCAG	NM_018905			140175285	1	no_errors	ENST00000526136	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000	-	-	140175285	TCAG	-	140175282	7	5	201	1	0	1	0	1	0	0	0	0	11526	1435	50	0	735	0	PCDHA2	5	140175282	Frame_Shift_Del	DEL	TCAG	TCGA-QQ-A5VB-01A-11D-A36J-09	68418106	140175282	40739978	30	15896											
RNF14	9604	genome.wustl.edu	37	chr5	141353227	141353227	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatttacgatggagatgaatTtagaaaagcagagtctgtcc	10	5	1	4			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:141353227T>A	ENST00000394520.2	+	3	383	c.74T>A	c.(73-75)tTt>tAt	p.F25Y	RNF14_ENST00000394519.1_Missense_Mutation_p.F25Y|RNF14_ENST00000356143.1_Missense_Mutation_p.F25Y|RNF14_ENST00000347642.3_Missense_Mutation_p.F25Y|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Missense_Mutation_p.F25Y|RNF14_ENST00000394515.3_Missense_Mutation_p.F25Y	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	25	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GGAGATGAATTTAGAAAAGCA	0.388																																																	0								ENSG00000013561						88	90	89					5																	141353227		2203	4300	6503	RNF14	SO:0001583	missense	0			-	HGNC	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.74T>A	5.37:g.141353227T>A	ENSP00000378028:p.Phe25Tyr	Somatic	0	55	0		0.599270127213081	44	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP							pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.F25Y	ENST00000394520.2	37	c.74	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	T	35	5.421024	0.96111	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000506938;ENST00000512565;ENST00000394515;ENST00000507163;ENST00000394519;ENST00000507291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	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	5.82	5.82	0.92795	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.98;0.992;0.999	T	0.78347	-0.2239	10	0.56958	D	0.05	.	16.1639	0.81739	0.0:0.0:0.0:1.0	.	25;25;25	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	Y	25	ENSP00000423420:F25Y;ENSP00000423273:F25Y;ENSP00000421780:F25Y;ENSP00000348462:F25Y;ENSP00000378028:F25Y;ENSP00000324956:F25Y;ENSP00000442490:F25Y;ENSP00000420837:F25Y;ENSP00000426832:F25Y;ENSP00000378023:F25Y;ENSP00000422527:F25Y;ENSP00000378027:F25Y;ENSP00000423294:F25Y	ENSP00000324956:F25Y	F	+	2	0	RNF14	141333411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.983000	0.88140	2.222000	0.72286	0.377000	0.23210	TTT	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain		0.388	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	protein_coding	OTTHUMT00000251860.2	T	NM_004290	-		141353227	1	no_errors	ENST00000347642	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141353227	T	A	141353227	3	1	201	1	0	0	0	0	1	0	0	0	13451	1841	64	5	76	5	RNF14	5	141353227	Missense_Mutation	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09	1177945	141353227	39562033	31	15897											
DBN1	1627	genome.wustl.edu	37	chr5	176887695	176887695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctcttcctcctcatcccGatggtcaccctagaaaccaa	6	16	3	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:176887695G>A	ENST00000309007.5	-	9	1000	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	DBN1_ENST00000292385.5_Missense_Mutation_p.R263W|DBN1_ENST00000393565.1_Missense_Mutation_p.R261W|DBN1_ENST00000393563.4_5'UTR|DBN1_ENST00000512501.1_5'UTR	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	261					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TCCTCATCCCGATGGTCACCC	0.517																																																	0								ENSG00000113758						125	101	109					5																	176887695		2203	4300	6503	DBN1	SO:0001583	missense	0			-	HGNC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.781C>T	5.37:g.176887695G>A	ENSP00000308532:p.Arg261Trp	Somatic	0	67	0		0.599270127213081	101	55.46	127	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	38	42.42	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP							pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.R263W	ENST00000309007.5	37	c.787	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664979	0.67700	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.44083	0.93;0.93;1.49	5.07	3.21	0.36854	.	0.844856	0.10589	N	0.657007	T	0.49864	0.1582	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.991;0.995	P;P;P;P	0.56700	0.804;0.724;0.549;0.629	T	0.38650	-0.9651	10	0.87932	D	0	-4.6837	11.9559	0.52981	0.0:0.0:0.5455:0.4545	.	211;261;261;263	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	W	261;263;261;260	ENSP00000308532:R261W;ENSP00000292385:R263W;ENSP00000377195:R261W	ENSP00000292385:R263W	R	-	1	2	DBN1	176820301	0.090000	0.21635	0.995000	0.50966	0.982000	0.71751	0.891000	0.28309	0.483000	0.27608	0.561000	0.74099	CGG	-	NULL		0.517	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	protein_coding	OTTHUMT00000253429.2	G	NM_080881	-		176887695	-1	no_errors	ENST00000292385	ensembl	human	known	74_37	missense	SNP	0.985	A	A	176887695	G	A	176887695	3	1	201	1	0	0	0	0	1	0	0	0	4254	1057	37	1	1192	1	DBN1	5	176887695	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	35534468	176887695	4027565	32	15898											
DOK3	79930	genome.wustl.edu	37	chr5	176936610	176936610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacaggctggacgggaactCctcacacttccccttctggc	10	15	2	1	rs372299396		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr5:176936610C>T	ENST00000357198.4	-	2	104	c.100G>A	c.(100-102)Gag>Aag	p.E34K	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_5'UTR|DOK3_ENST00000501403.2_5'UTR	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	34					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GACGGGAACTCCTCACACTTC	0.657																																																	0								ENSG00000146094	C	,,LYS/GLU	0,4406		0,0,2203	68	72	71		,,100	1.7	1	5		71	1,8599		0,1,4299	no	intron,utr-5,missense	DOK3	NM_001144875.1,NM_001144876.1,NM_024872.2	,,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,possibly-damaging	,,34/497	176936610	1,13005	2203	4300	6503	DOK3	SO:0001583	missense	0			-	HGNC	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.100G>A	5.37:g.176936610C>T	ENSP00000349727:p.Glu34Lys	Somatic	0	51	0		0.599270127213081	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	22	60.71	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E34K	ENST00000357198.4	37	c.100	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296787	0.60086	0.0	1.16E-4	ENSG00000146094	ENST00000357198	T	0.20069	2.1	4.18	1.67	0.24075	.	1.247490	0.06104	N	0.665998	T	0.15565	0.0375	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26883	-1.0090	10	0.87932	D	0	-16.2589	1.876	0.03218	0.1516:0.4511:0.2376:0.1597	.	34	Q7L591	DOK3_HUMAN	K	34	ENSP00000349727:E34K	ENSP00000349727:E34K	E	-	1	0	DOK3	176869216	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.256000	0.18351	0.173000	0.19788	0.491000	0.48974	GAG	-	NULL		0.657	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	protein_coding	OTTHUMT00000253420.4	C	NM_024872	-		176936610	-1	no_errors	ENST00000357198	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176936610	C	T	176936610	3	4	201	1	0	0	0	0	1	0	0	0	4700	864	30	2	1762	2	DOK3	5	176936610	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	48915	176936610	3978650	33	15899											
SLC22A7	10864	genome.wustl.edu	37	chr6	43269949	43269949	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcaggttcggagtgaActtctcctattacggcctga	9	11	2	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr6:43269949A>T	ENST00000372585.5	+	8	1168	c.1073A>T	c.(1072-1074)aAc>aTc	p.N358I	SLC22A7_ENST00000372589.3_Missense_Mutation_p.N356I|SLC22A7_ENST00000372574.3_Missense_Mutation_p.N356I	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	358					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TTCGGAGTGAACTTCTCCTAT	0.562																																																	0								ENSG00000137204						128	120	122					6																	43269949		2203	4300	6503	SLC22A7	SO:0001583	missense	0			-	HGNC	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1073A>T	6.37:g.43269949A>T	ENSP00000361666:p.Asn358Ile	Somatic	0	86	0		0.599270127213081	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP							pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.N358I	ENST00000372585.5	37	c.1073	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926265	0.73327	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;D	0.82526	0.31;0.31;0.31;-1.62	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.186903	0.47093	D	0.000250	D	0.82430	0.5035	L	0.52266	1.64	0.80722	D	1	P;P;D	0.57899	0.947;0.935;0.981	P;P;P	0.61722	0.893;0.828;0.888	D	0.85399	0.1130	10	0.87932	D	0	.	9.4249	0.38574	0.8211:0.1789:0.0:0.0	.	358;356;356	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	I	356;358;356;51	ENSP00000361670:N356I;ENSP00000361666:N358I;ENSP00000361655:N356I;ENSP00000393836:N51I	ENSP00000361655:N356I	N	+	2	0	SLC22A7	43377927	0.690000	0.27699	1.000000	0.80357	0.990000	0.78478	0.812000	0.27211	1.997000	0.58415	0.379000	0.24179	AAC	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.562	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	protein_coding	OTTHUMT00000040588.1	A		-		43269949	1	no_errors	ENST00000372585	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43269949	A	T	43269949	3	4	201	1	0	0	0	0	1	0	0	0	14467	43	2	5	1099	5	SLC22A7	6	43269949	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09		43269949	127845118	34	15900											
EYS	346007	genome.wustl.edu	37	chr6	66204592	66204592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagacacattcatatgcttGctcatcccaattttctcttt	3	12	3	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr6:66204592G>T	ENST00000370621.3	-	4	1238	c.712C>A	c.(712-714)Caa>Aaa	p.Q238K	EYS_ENST00000503581.1_Missense_Mutation_p.Q238K|EYS_ENST00000393380.2_Missense_Mutation_p.Q238K|EYS_ENST00000342421.5_Missense_Mutation_p.Q238K|EYS_ENST00000370616.2_Missense_Mutation_p.Q238K|EYS_ENST00000370618.3_Missense_Mutation_p.Q238K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	238	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q238K(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCATATGCTTGCTCATCCCAA	0.303																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000188107						21	21	21					6																	66204592		2202	4297	6499	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.712C>A	6.37:g.66204592G>T	ENSP00000359655:p.Gln238Lys	Somatic	0	51	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q238K	ENST00000370621.3	37	c.712		6	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177806	0.06380	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	4.69	1.71	0.24356	.	.	.	.	.	T	0.65428	0.2690	N	0.17345	0.48	0.09310	N	1	P;P;P	0.43826	0.557;0.782;0.818	B;B;P	0.47864	0.116;0.423;0.559	T	0.60535	-0.7244	9	0.44086	T	0.13	.	1.076	0.01632	0.2078:0.1767:0.4332:0.1823	.	238;238;238	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	238	ENSP00000424243:Q238K;ENSP00000359655:Q238K;ENSP00000359650:Q238K;ENSP00000377042:Q238K;ENSP00000341818:Q238K;ENSP00000359652:Q238K	ENSP00000341818:Q238K	Q	-	1	0	EYS	66261313	0.151000	0.22747	0.068000	0.19968	0.416000	0.31233	0.684000	0.25364	1.078000	0.41014	0.591000	0.81541	CAA	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.303	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	G	XM_294050	-		66204592	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.000	T	T	66204592	G	T	66204592	3	4	201	1	0	0	0	0	1	0	0	0	5334	1328	46	3	8844	3	EYS	6	66204592	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	22934643	66204592	104910475	35	15901											
KIAA1244	57221	genome.wustl.edu	37	chr6	138645275	138645275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgagtactggcgcatccGagccatggcccagcaggtaa	14	13	0	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr6:138645275G>A	ENST00000251691.4	+	31	5151	c.4985G>A	c.(4984-4986)cGa>cAa	p.R1662Q		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGCGCATCCGAGCCATGGCC	0.627																																																	0								ENSG00000112379						36	40	38					6																	138645275		2203	4298	6501	KIAA1244	SO:0001583	missense	0			-	HGNC	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4985G>A	6.37:g.138645275G>A	ENSP00000251691:p.Arg1662Gln	Somatic	0	34	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51		Missense_Mutation	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.R1662Q	ENST00000251691.4	37	c.4985	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399651	0.62177	.	.	ENSG00000112379	ENST00000251691	T	0.18016	2.24	5.44	5.44	0.79542	.	0.064498	0.64402	D	0.000010	T	0.07503	0.0189	L	0.33485	1.01	0.39875	D	0.973551	D	0.52996	0.957	B	0.39068	0.289	T	0.27331	-1.0077	10	0.19147	T	0.46	-12.3311	19.6229	0.95667	0.0:0.0:1.0:0.0	.	1662	Q5TH69	BIG3_HUMAN	Q	1662	ENSP00000251691:R1662Q	ENSP00000251691:R1662Q	R	+	2	0	KIAA1244	138686968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.324000	0.79115	2.708000	0.92522	0.650000	0.86243	CGA	-	NULL		0.627	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	protein_coding	OTTHUMT00000042425.4	G	NM_020340	-		138645275	1	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138645275	G	A	138645275	3	1	201	1	0	0	0	0	1	0	0	0	8219	1058	37	1	5107	1	KIAA1244	6	138645275	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	72440683	138645275	32469792	36	15902											
ZBTB2	57621	genome.wustl.edu	37	chr6	151687316	151687316	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtcagctgcattgctacaGagagtcagggggacgcgact	15	9	2	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr6:151687316G>T	ENST00000325144.4	-	3	1025	c.885C>A	c.(883-885)ctC>ctA	p.L295L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	295					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(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CATTGCTACAGAGAGTCAGGG	0.537																																																	0								ENSG00000181472						138	127	131					6																	151687316		2203	4300	6503	ZBTB2	SO:0001819	synonymous_variant	0			-	HGNC	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.885C>A	6.37:g.151687316G>T		Somatic	0	35	0		0.599270127213081	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A8K7C7|Q5SZ81|Q9P245	Silent	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L295	ENST00000325144.4	37	c.885	CCDS5231.1	6																																																																																			-	NULL		0.537	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	protein_coding	OTTHUMT00000042715.1	G	NM_020861	-		151687316	-1	no_errors	ENST00000325144	ensembl	human	known	74_37	silent	SNP	0.053	T	T	151687316	G	T	151687316	2	4	201	1	0	0	0	0	0	0	0	1	17535	929	33	3		3	ZBTB2	6	151687316	Silent	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	13042041	151687316	19427751	37	15903											
FBXO5	26271	genome.wustl.edu	37	chr6	153293556	153293556	+	Frame_Shift_Del	DEL	T	T	-													gaacataacatattctctggTtgaagcatgaggtgaaaatt							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr6:153293556delT	ENST00000229758.3	-	4	1001	c.943delA	c.(943-945)accfs	p.T315fs	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Frame_Shift_Del_p.T269fs	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	315					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TATTCTCTGGTTGAAGCATGA	0.323																																					NSCLC(121;372 1757 17721 17977 29669)												0								ENSG00000112029						98	96	97					6																	153293556		2203	4300	6503	FBXO5	SO:0001589	frameshift_variant	0				HGNC	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.943delA	6.37:g.153293556delT	ENSP00000229758:p.Thr315fs	Somatic	0	48	0		0.599270127213081	57	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Frame_Shift_Del	DEL							pfam_F-box_dom,superfamily_F-box_dom	p.T315fs	ENST00000229758.3	37	c.943	CCDS5242.1	6																																																																																			-	NULL		0.323	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	protein_coding	OTTHUMT00000042757.1	T				153293556	-1	no_errors	ENST00000229758	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	153293556	T	-	153293556	7	5	201	1	0	1	0	1	0	0	0	0	5760	1725	60	0	408	0	FBXO5	6	153293556	Frame_Shift_Del	DEL	T	TCGA-QQ-A5VB-01A-11D-A36J-09	1606240	153293556	17821511	38	15904											
PDE1C	5137	genome.wustl.edu	37	chr7	31855612	31855612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtcacttttgtttgccCgtgttccattgacttgattc	9	9	1	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr7:31855612C>A	ENST00000396191.1	-	15	2194	c.1739G>T	c.(1738-1740)cGg>cTg	p.R580L	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.R580L|PDE1C_ENST00000396184.3_Missense_Mutation_p.R580L|PDE1C_ENST00000396193.1_Missense_Mutation_p.R640L|PDE1C_ENST00000396182.2_Missense_Mutation_p.R580L	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	580					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R580Q(2)|p.R580L(2)|p.R640Q(1)|p.R640L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTTGTTTGCCCGTGTTCCATT	0.468																																																	6	Substitution - Missense(6)	lung(3)|kidney(3)						ENSG00000154678						269	265	266					7																	31855612		2203	4300	6503	PDE1C	SO:0001583	missense	0			-	HGNC	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1739G>T	7.37:g.31855612C>A	ENSP00000379494:p.Arg580Leu	Somatic	0	87	0		0.599270127213081	0	100	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	36	53.25	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R580L	ENST00000396191.1	37	c.1739	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473893	0.26423	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73363	-0.74;-0.73;-0.73;-0.66;-0.66	5.34	5.34	0.76211	.	1.317630	0.05318	N	0.526138	T	0.69033	0.3066	L	0.27053	0.805	0.09310	N	0.999994	B;B;B	0.22146	0.065;0.02;0.006	B;B;B	0.20577	0.03;0.008;0.005	T	0.55648	-0.8108	10	0.48119	T	0.1	.	15.8967	0.79341	0.0:1.0:0.0:0.0	.	580;640;580	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	L	640;580;580;580;580	ENSP00000379496:R640L;ENSP00000379494:R580L;ENSP00000318105:R580L;ENSP00000379487:R580L;ENSP00000379485:R580L	ENSP00000318105:R580L	R	-	2	0	PDE1C	31822137	0.000000	0.05858	0.029000	0.17559	0.005000	0.04900	0.208000	0.17415	2.779000	0.95612	0.655000	0.94253	CGG	-	NULL		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	C		-		31855612	-1	no_errors	ENST00000321453	ensembl	human	known	74_37	missense	SNP	0.122	A	A	31855612	C	A	31855612	3	1	201	1	0	0	0	0	1	0	0	0	11637	652	23	3	177	3	PDE1C	7	31855612	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09		31855612	127283051	39	15905											
MLL3	58508	genome.wustl.edu	37	chr7	151842337	151842337	+	Frame_Shift_Del	DEL	C	C	-													gttccatgagaggatttcggCcgtatcggaaggtataattt							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr7:151842337delC	ENST00000262189.6	-	54	14293	c.14075delG	c.(14074-14076)ggcfs	p.G4692fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.G4749fs|KMT2C_ENST00000485655.2_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4692					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)										AGGATTTCGGCCGTATCGGAA	0.473																																																	0								ENSG00000055609						90	78	82					7																	151842337		2203	4300	6503	KMT2C	SO:0001589	frameshift_variant	0				HGNC	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.14075delG	7.37:g.151842337delC	ENSP00000262189:p.Gly4692fs	Somatic	0	88	0		0.599270127213081	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G4749fs	ENST00000262189.6	37	c.14246	CCDS5931.1	7																																																																																			-	pfam_FYrich_C,smart_FYrich_C		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	C				151842337	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	151842337	C	-	151842337	7	5	201	1	0	1	0	1	0	0	0	0	9624	739	26	0	684	0	MLL3	7	151842337	Frame_Shift_Del	DEL	C	TCGA-QQ-A5VB-01A-11D-A36J-09	119986725	151842337	7296326	40	15906											
MLL3	58508	genome.wustl.edu	37	chr7	151874147	151874148	+	Frame_Shift_Ins	INS	-	-	T													gagttttgttttcttgttccINStttttttttggttcaacaga							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr7:151874147_151874148insT	ENST00000262189.6	-	38	8608_8609	c.8390_8391insA	c.(8389-8391)aagfs	p.K2797fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.K2797fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2797				K -> R (in Ref. 1; AAK00583). {ECO:0000305}.	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)	p.K2797fs*26(20)									TTTCTTGTTCCTTTTTTTTTGG	0.347																																																	20	Deletion - Frameshift(20)	large_intestine(18)|liver(2)						ENSG00000055609																																			KMT2C	SO:0001589	frameshift_variant	0				HGNC	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.8391dupA	7.37:g.151874156_151874156dupT	ENSP00000262189:p.Lys2797fs	Somatic	0	35	0		0.599270127213081	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E2798fs	ENST00000262189.6	37	c.8391_8390	CCDS5931.1	7																																																																																			-	NULL		0.347	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	-				151874148	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	frame_shift_ins	INS	0.017:0.019	T	T	151874148	-	T	151874147	7	5	201	1	0	1	1	0	0	0	0	0	9624	680	24	0	6432	0	MLL3	7	151874147	Frame_Shift_Ins	INS	-	TCGA-QQ-A5VB-01A-11D-A36J-09	31810	151874147	7264516	41	15907											
HMBOX1	79618	genome.wustl.edu	37	chr8	28908583	28908583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccccatctcattagctGtggaaatggcagcagtcaac	9	11	2	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr8:28908583G>A	ENST00000397358.3	+	11	1878	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	HMBOX1_ENST00000444075.1_Missense_Mutation_p.V415M|HMBOX1_ENST00000524238.1_Missense_Mutation_p.V415M|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000355231.5_Intron|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000287701.10_Missense_Mutation_p.V392M	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	392					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CTCATTAGCTGTGGAAATGGC	0.463																																																	0								ENSG00000147421						176	144	155					8																	28908583		2203	4300	6503	HMBOX1	SO:0001583	missense	0			-	HGNC	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.1174G>A	8.37:g.28908583G>A	ENSP00000380516:p.Val392Met	Somatic	0	41	0		0.599270127213081	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP							pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.V415M	ENST00000397358.3	37	c.1243	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830482	0.71258	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000397358;ENST00000524238;ENST00000517340	D;D;D;D	0.99898	-7.54;-7.61;-7.54;-7.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.99	D;D;D	0.70487	0.931;0.943;0.969	D	0.97247	0.9895	10	0.46703	T	0.11	-4.7992	19.6056	0.95580	0.0:0.0:1.0:0.0	.	415;390;392	Q6NT76-5;Q6NT76-3;Q6NT76	.;.;HMBX1_HUMAN	M	392;415;392;415;390	ENSP00000287701:V392M;ENSP00000401769:V415M;ENSP00000380516:V392M;ENSP00000430110:V415M	ENSP00000287701:V392M	V	+	1	0	HMBOX1	28964502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.538000	0.90634	2.625000	0.88918	0.655000	0.94253	GTG	-	NULL		0.463	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	protein_coding	OTTHUMT00000255267.4	G	NM_024567	-		28908583	1	no_errors	ENST00000444075	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28908583	G	A	28908583	3	1	201	1	0	0	0	0	1	0	0	0	7220	1377	48	2	1208	2	HMBOX1	8	28908583	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		28908583	117455439	42	15908											
WRN	7486	genome.wustl.edu	37	chr8	30916696	30916696	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcggaagagtgtttttgaaGatgacctccccttcttagaa	9	8	1	5			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr8:30916696G>T	ENST00000298139.5	+	3	373	c.124G>T	c.(124-126)Gat>Tat	p.D42Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	42	Interaction with WRNIP1. {ECO:0000250}.				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)		TGTTTTTGAAGATGACCTCCC	0.348			"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)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								ENSG00000165392						248	222	231					8																	30916696		2203	4300	6503	WRN	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria	-	HGNC		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.124G>T	8.37:g.30916696G>T	ENSP00000298139:p.Asp42Tyr	Somatic	0	48	0		0.599270127213081	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A1KYY9	Missense_Mutation	SNP							pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.D42Y	ENST00000298139.5	37	c.124	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216443	0.39201	.	.	ENSG00000165392	ENST00000298139	T	0.50001	0.76	5.94	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	M	0.76002	2.32	0.37232	D	0.905722	D	0.89917	1.0	D	0.75020	0.985	T	0.74137	-0.3762	10	0.87932	D	0	-29.7264	11.0953	0.48141	0.0:0.1388:0.7171:0.1442	.	42	Q14191	WRN_HUMAN	Y	42	ENSP00000298139:D42Y	ENSP00000298139:D42Y	D	+	1	0	WRN	31036238	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	3.236000	0.51336	1.506000	0.48736	0.650000	0.86243	GAT	-	NULL		0.348	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	G		-		30916696	1	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	SNP	0.999	T	T	30916696	G	T	30916696	3	4	201	1	0	0	0	0	1	0	0	0	17409	942	33	3	130	3	WRN	8	30916696	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	2008113	30916696	115447326	43	15909											
ANK1	286	genome.wustl.edu	37	chr8	41519417	41519417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtgctcctgggcggcatCggcgctggacaagtctatct	13	13	2	0	rs143987736		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr8:41519417C>T	ENST00000347528.4	-	41	5604	c.5521G>A	c.(5521-5523)Gat>Aat	p.D1841N	ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.D116N|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.D1841N|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.D1841N|ANK1_ENST00000522543.1_Missense_Mutation_p.D116N|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Intron|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.D116N|ANK1_ENST00000265709.8_Missense_Mutation_p.D1882N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1841	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGCGGCATCGGCGCTGGAC	0.572																																																	0								ENSG00000029534	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,	0,4406		0,0,2203	50	54	53		5521,346,5644,5521,5521,5035,346,	2.6	0	8	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,intron	ANK1	NM_000037.3,NM_001142445.1,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2,NM_020478.4,NM_020480.4	23,23,23,23,23,23,23,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	1841/1881,116/157,1882/1898,1841/1857,1841/1882,1679/1720,116/156,	41519417	1,13005	2203	4300	6503	ANK1	SO:0001583	missense	0			-	HGNC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5521G>A	8.37:g.41519417C>T	ENSP00000339620:p.Asp1841Asn	Somatic	0	49	0		0.599270127213081	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D1841N	ENST00000347528.4	37	c.5521	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.964|2.964	-0.213985|-0.213985	0.06101|0.06101	0.0|0.0	1.16E-4|1.16E-4	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709|ENST00000520299	T;T;T;D;D;D;T|.	0.88201|.	-0.26;-0.29;-0.25;-1.82;-2.24;-2.35;-0.2|.	5.42|5.42	2.57|2.57	0.30868|0.30868	.|.	1.133750|.	0.06697|.	N|.	0.770743|.	T|T	0.32763|0.32763	0.0840|0.0840	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D;P;B;B;B;B;B;P;P|.	0.54397|.	0.966;0.549;0.0;0.079;0.324;0.201;0.003;0.893;0.928|.	P;B;B;B;B;B;B;B;P|.	0.47603|.	0.481;0.073;0.001;0.015;0.038;0.057;0.001;0.386;0.551|.	T|T	0.20940|0.20940	-1.0260|-1.0260	10|5	0.17832|.	T|.	0.49|.	.|.	8.6354|8.6354	0.33945|0.33945	0.0:0.6801:0.0:0.3199|0.0:0.6801:0.0:0.3199	.|.	116;1882;1679;1841;1841;1841;995;116;116|.	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7|.	.;.;.;ANK1_HUMAN;.;.;.;.;.|.	N|Q	1841;1841;1841;116;116;116;1882|1000	ENSP00000339620:D1841N;ENSP00000289734:D1841N;ENSP00000380147:D1841N;ENSP00000428750:D116N;ENSP00000430368:D116N;ENSP00000319123:D116N;ENSP00000265709:D1882N|.	ENSP00000265709:D1882N|.	D|R	-|-	1|2	0|0	ANK1|ANK1	41638574|41638574	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	1.702000|1.702000	0.37836|0.37836	0.754000|0.754000	0.32968|0.32968	0.561000|0.561000	0.74099|0.74099	GAT|CGA	-	NULL		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	C	NM_020475	rs143987736		41519417	-1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	SNP	0.000	T	T	41519417	C	T	41519417	3	4	201	1	0	0	0	0	1	0	0	0	620	884	31	1	235	1	ANK1	8	41519417	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	10602721	41519417	104844605	44	15910											
PRKDC	5591	genome.wustl.edu	37	chr8	48701570	48701570	+	Frame_Shift_Del	DEL	G	G	-													caatgttttttttatttacaGgggtttttgctagttcagct							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr8:48701570delG	ENST00000314191.2	-	77	10852	c.10796delC	c.(10795-10797)cctfs	p.P3599fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.P3599fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3600					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTATTTACAGGGGTTTTTGC	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						82	74	76					8																	48701570		1791	4062	5853	PRKDC	SO:0001589	frameshift_variant	0				HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10796delC	8.37:g.48701570delG	ENSP00000313420:p.Pro3599fs	Somatic	0	65	0		0.599270127213081	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	32	63.22	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P3599fs	ENST00000314191.2	37	c.10796		8																																																																																			-	NULL		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		G	NM_001081640			48701570	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_del	DEL	0.002	-	-	48701570	G	-	48701570	7	5	201	1	0	1	0	1	0	0	0	0	12526	1000	35	0	1631	0	PRKDC	8	48701570	Frame_Shift_Del	DEL	G	TCGA-QQ-A5VB-01A-11D-A36J-09	7182153	48701570	97662452	45	15911											
GRIN1	2902	genome.wustl.edu	37	chr9	140059670	140059670	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagcagagcctgacccTaaaaagaaagccacatttag	10	9	0	4			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr9:140059670T>A	ENST00000371561.3	+	19	3719	c.2622T>A	c.(2620-2622)ccT>ccA	p.P874P	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.P895P|GRIN1_ENST00000371555.4_Intron|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371546.4_Silent_p.P895P|GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000315048.3_Silent_p.P874P|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000350902.5_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	874					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCCTGACCCTAAAAAGAAAG	0.522																																					NSCLC(113;717 1653 2089 20474 37618)												0								ENSG00000176884						152	152	152					9																	140059670		2203	4300	6503	GRIN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2622T>A	9.37:g.140059670T>A		Somatic	0	65	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.00	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P874	ENST00000371561.3	37	c.2622	CCDS7031.1	9																																																																																			-	NULL		0.522	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	protein_coding	OTTHUMT00000055267.3	T	NM_007327	-		140059670	1	no_errors	ENST00000371561	ensembl	human	known	74_37	silent	SNP	1.000	A	A	140059670	T	A	140059670	2	1	201	1	0	0	0	0	0	0	0	1	6780	1509	53	5		5	GRIN1	9	140059670	Silent	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09		140059670	1153761	46	15912											
RSU1	6251	genome.wustl.edu	37	chr10	16858999	16858999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatccagcatgttggAgatgccccggtcactcatgt	11	11	2	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr10:16858999A>T	ENST00000377921.3	-	1	383	c.82T>A	c.(82-84)Tcc>Acc	p.S28T	RSU1_ENST00000345264.5_Missense_Mutation_p.S28T|RSU1_ENST00000602389.1_Intron|RSU1_ENST00000464074.2_Intron			Q15404	RSU1_HUMAN	Ras suppressor protein 1	28					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		AGCATGTTGGAGATGCCCCGG	0.557																																																	0								ENSG00000148484						126	108	114					10																	16858999		2203	4300	6503	RSU1	SO:0001583	missense	0			-	HGNC	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.82T>A	10.37:g.16858999A>T	ENSP00000367154:p.Ser28Thr	Somatic	0	67	0		0.599270127213081	217	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S28T	ENST00000377921.3	37	c.82	CCDS7112.1	10	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417758	0.25552	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.50548	0.74;0.74	5.21	4.07	0.47477	.	.	.	.	.	T	0.27933	0.0688	L	0.28344	0.845	0.53688	D	0.999972	B;B	0.18741	0.03;0.0	B;B	0.16289	0.015;0.001	T	0.05683	-1.0870	9	0.07644	T	0.81	.	7.0176	0.24897	0.7758:0.1482:0.076:0.0	.	28;28	B0YJ73;Q15404	.;RSU1_HUMAN	T	28	ENSP00000339521:S28T;ENSP00000367154:S28T	ENSP00000339521:S28T	S	-	1	0	RSU1	16899005	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.438000	0.73426	1.001000	0.39076	0.454000	0.30748	TCC	-	NULL		0.557	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSU1	protein_coding	OTTHUMT00000047006.1	A	NM_012425, NM_152724	-		16858999	-1	no_errors	ENST00000345264	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16858999	A	T	16858999	3	4	201	1	0	0	0	0	1	0	0	0	13724	304	11	5	783	5	RSU1	10	16858999	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09		16858999	118675748	47	15913											
SLC39A12	221074	genome.wustl.edu	37	chr10	18250639	18250639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaggaagagatctgttctTcaaagctcaacatgagtaat	8	7	5	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr10:18250639T>C	ENST00000377369.2	+	3	664	c.391T>C	c.(391-393)Tca>Cca	p.S131P	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S131P|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S131P|SLC39A12_ENST00000539911.1_5'UTR	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	131					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATCTGTTCTTCAAAGCTCAA	0.393																																																	0								ENSG00000148482						92	98	96					10																	18250639		2203	4300	6503	SLC39A12	SO:0001583	missense	0			-	HGNC		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.391T>C	10.37:g.18250639T>C	ENSP00000366586:p.Ser131Pro	Somatic	0	34	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP							pfam_ZIP	p.S131P	ENST00000377369.2	37	c.391	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665573	0.47677	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.23552	1.9;1.9;1.9	5.32	4.2	0.49525	.	0.319390	0.29791	N	0.011200	T	0.31263	0.0791	L	0.61036	1.89	0.80722	D	1	P;P;P	0.43024	0.798;0.696;0.661	P;B;B	0.45639	0.488;0.294;0.338	T	0.04752	-1.0929	10	0.41790	T	0.15	-12.3472	10.5407	0.45031	0.0:0.0759:0.0:0.9241	.	131;131;131	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	P	131;131;131;51	ENSP00000366586:S131P;ENSP00000366591:S131P;ENSP00000366588:S131P	ENSP00000366586:S131P	S	+	1	0	SLC39A12	18290645	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.920000	0.48844	2.005000	0.58758	0.528000	0.53228	TCA	-	NULL		0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	protein_coding		T	NM_152725	-		18250639	1	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	SNP	0.994	C	C	18250639	T	C	18250639	3	2	201	1	0	0	0	0	1	0	0	0	14623	1783	62	5	397	5	SLC39A12	10	18250639	Missense_Mutation	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09	1391640	18250639	117284108	48	15914											
OPN4	94233	genome.wustl.edu	37	chr10	88416016	88416016	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttgctggtgggactcacGgggatgctgggcaacctgac	15	10	2	1	rs370827317		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr10:88416016G>T	ENST00000241891.5	+	2	416	c.249G>T	c.(247-249)acG>acT	p.T83T	OPN4_ENST00000372071.2_Silent_p.T83T	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	83					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TGGGACTCACGGGGATGCTGG	0.627																																																	0								ENSG00000122375						162	149	153					10																	88416016		2203	4300	6503	OPN4	SO:0001819	synonymous_variant	0			-	HGNC	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.249G>T	10.37:g.88416016G>T		Somatic	0	60	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.T83	ENST00000241891.5	37	c.249	CCDS7376.1	10																																																																																			-	prints_GPCR_Rhodpsn		0.627	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	protein_coding	OTTHUMT00000049158.2	G	NM_033282	-		88416016	1	no_errors	ENST00000372071	ensembl	human	known	74_37	silent	SNP	0.150	T	T	88416016	G	T	88416016	2	4	201	1	0	0	0	0	0	0	0	1	10884	1103	39	3		3	OPN4	10	88416016	Silent	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	70165377	88416016	47118731	49	15915											
C10orf26	54838	genome.wustl.edu	37	chr10	104572682	104572683	+	Frame_Shift_Ins	INS	-	-	G													ggcctgggggagctggacccINSgggggccttcctggacaaag					rs138842285|rs146098584	byFrequency	TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr10:104572682_104572683insG	ENST00000369889.4	+	4	765_766	c.623_624insG	c.(622-627)ccggggfs	p.PG208fs	WBP1L_ENST00000448841.1_Frame_Shift_Ins_p.PG229fs	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	208						integral component of membrane (GO:0016021)											GAGCTGGACCCGGGGGCCTTCC	0.619																																																	0								ENSG00000166272																																			WBP1L	SO:0001589	frameshift_variant	0				HGNC	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"outcome predictor in acute leukemia 1"	611129	"chromosome 10 open reading frame 26"	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.628dupG	10.37:g.104572687_104572687dupG	ENSP00000358905:p.Pro208fs	Somatic	0	57	0		0.599270127213081	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Frame_Shift_Ins	INS							pfam_Uncharacterised_WW-bd	p.A231fs	ENST00000369889.4	37	c.686_687	CCDS7540.1	10																																																																																			-	NULL		0.619	WBP1L-001	KNOWN	basic|CCDS	protein_coding	WBP1L	protein_coding	OTTHUMT00000050100.1	-	NM_017787			104572683	1	no_errors	ENST00000448841	ensembl	human	known	74_37	frame_shift_ins	INS	0.540:0.000	G	G	104572683	-	G	104572682	7	5	201	1	0	1	1	0	0	0	0	0	1601	652	23	0	731	0	C10orf26	10	104572682	Frame_Shift_Ins	INS	-	TCGA-QQ-A5VB-01A-11D-A36J-09	16156666	104572682	30962065	50	15916											
ASRGL1	80150	genome.wustl.edu	37	chr11	62156674	62156674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacgcaacctccacaggCggtatcgttaataaaatggt	9	11	0	0	rs150568119	byFrequency	TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr11:62156674C>T	ENST00000415229.2	+	5	776	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Silent_p.G187G|ASRGL1_ENST00000535727.1_Silent_p.G59G	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	187					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCTCCACAGGCGGTATCGTTA	0.542																																																	0								ENSG00000162174	C	,	1,4403		0,1,2201	125	117	120		561,561	-1.4	0.1	11	dbSNP_134	120	6,8592		0,6,4293	no	coding-synonymous,coding-synonymous	ASRGL1	NM_001083926.1,NM_025080.3	,	0,7,6494	TT,TC,CC		0.0698,0.0227,0.0538	,	187/309,187/309	62156674	7,12995	2202	4299	6501	ASRGL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.561C>T	11.37:g.62156674C>T		Somatic	0	86	0		0.599270127213081	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	75	17.58	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP							pfam_Peptidase_T2	p.G187	ENST00000415229.2	37	c.561	CCDS8019.1	11																																																																																			-	pfam_Peptidase_T2		0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASRGL1	protein_coding	OTTHUMT00000394865.1	C	NM_001083926	rs150568119		62156674	1	no_errors	ENST00000301776	ensembl	human	known	74_37	silent	SNP	0.965	T	T	62156674	C	T	62156674	2	4	201	1	0	0	0	0	0	0	0	1	1060	755	27	1		1	ASRGL1	11	62156674	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09		62156674	72849842	51	15917											
SLC22A6	9356	genome.wustl.edu	37	chr11	62749392	62749392	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtggggcacagcgtaggccAcaccagccaggaggaactgg	16	11	0	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr11:62749392A>T	ENST00000377871.3	-	4	985	c.719T>A	c.(718-720)gTg>gAg	p.V240E	SLC22A6_ENST00000421062.2_Missense_Mutation_p.V240E|SLC22A6_ENST00000458333.2_Missense_Mutation_p.V240E|SLC22A6_ENST00000360421.4_Missense_Mutation_p.V240E|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	240					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGCGTAGGCCACACCAGCCAG	0.597																																																	0								ENSG00000197901						61	52	55					11																	62749392		2201	4298	6499	SLC22A6	SO:0001583	missense	0			-	HGNC	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.719T>A	11.37:g.62749392A>T	ENSP00000367102:p.Val240Glu	Somatic	0	43	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Nonsense_Mutation	SNP							NULL	p.C232*	ENST00000377871.3	37	c.696	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768363	0.90020	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.04	2.69	0.31865	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.510670	0.03761	N	0.258237	T	0.71753	0.3377	M	0.83483	2.645	0.19300	N	0.999974	P;P;P;P	0.39094	0.659;0.659;0.537;0.481	P;B;P;B	0.50896	0.522;0.301;0.653;0.394	T	0.52305	-0.8593	10	0.87932	D	0	.	4.6087	0.12391	0.6831:0.214:0.1029:0.0	.	240;240;240;240	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	E	240;219;240;240;240	ENSP00000353597:V240E;ENSP00000367102:V240E;ENSP00000396401:V240E;ENSP00000404441:V240E	ENSP00000353597:V240E	V	-	2	0	SLC22A6	62505968	0.035000	0.19736	0.679000	0.29978	0.743000	0.42351	3.258000	0.51507	0.960000	0.38005	0.402000	0.26972	GTG	-	NULL		0.597	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	protein_coding	OTTHUMT00000396186.1	A	NM_004790	-		62749392	-1	no_errors	ENST00000540654	ensembl	human	known	74_37	nonsense	SNP	0.289	T	T	62749392	A	T	62749392	3	4	201	1	0	0	0	0	1	0	0	0	14466	159	6	5	1000	5	SLC22A6	11	62749392	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	592718	62749392	72257124	52	15918											
NRXN2	9379	genome.wustl.edu	37	chr11	64418820	64418820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgaactggaagaagAggtgcatggaagcataggct	15	5	1	3			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr11:64418820A>G	ENST00000377551.1	-	13	3036	c.2825T>C	c.(2824-2826)cTc>cCc	p.L942P	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.L902P|NRXN2_ENST00000265459.6_Missense_Mutation_p.L942P|NRXN2_ENST00000409571.1_Missense_Mutation_p.L935P			Q9P2S2	NRX2A_HUMAN	neurexin 2	942	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTGGAAGAAGAGGTGCATGGA	0.587											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000110076						94	68	77					11																	64418820		2201	4297	6498	NRXN2	SO:0001583	missense	0			-	HGNC		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2825T>C	11.37:g.64418820A>G	ENSP00000366774:p.Leu942Pro	Somatic	0	39	0	1076	0.599270127213081	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7E2C1|Q9Y2D6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L942P	ENST00000377551.1	37	c.2825	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128272	0.77549	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.38436	U	0.001686	D	0.92430	0.7597	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.97110	1.0;0.99;0.832	D	0.93601	0.6930	10	0.87932	D	0	.	11.2627	0.49093	1.0:0.0:0.0:0.0	.	902;942;688	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	P	942;902;942;902;935	ENSP00000366774:L942P;ENSP00000366782:L902P;ENSP00000265459:L942P;ENSP00000386416:L935P	ENSP00000265459:L942P	L	-	2	0	NRXN2	64175396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.089000	0.94137	1.760000	0.52011	0.454000	0.30748	CTC	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.587	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	protein_coding	OTTHUMT00000104967.3	A	NM_015080	-		64418820	-1	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	SNP	1.000	G	G	64418820	A	G	64418820	3	3	201	1	0	0	0	0	1	0	0	0	10668	304	11	5	2622	5	NRXN2	11	64418820	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	1669428	64418820	70587696	53	15919											
CLEC7A	64581	genome.wustl.edu	37	chr12	10280387	10280387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcaccagtattaccaagCataggattcccaaaattaca	4	11	1	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr12:10280387C>T	ENST00000304084.8	-	2	315	c.161G>A	c.(160-162)tGc>tAc	p.C54Y	CLEC7A_ENST00000353231.5_Missense_Mutation_p.C54Y|CLEC7A_ENST00000310002.4_Missense_Mutation_p.C54Y|CLEC7A_ENST00000298523.5_Missense_Mutation_p.C54Y|CLEC7A_ENST00000525605.1_Missense_Mutation_p.C54Y|CLEC7A_ENST00000533022.1_Missense_Mutation_p.C54Y|CLEC7A_ENST00000396484.2_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	54					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TATTACCAAGCATAGGATTCC	0.453																																																	0								ENSG00000172243						51	47	48					12																	10280387		2203	4299	6502	CLEC7A	SO:0001583	missense	0			-	HGNC	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.161G>A	12.37:g.10280387C>T	ENSP00000302569:p.Cys54Tyr	Somatic	0	52	0		0.599270127213081	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.C54Y	ENST00000304084.8	37	c.161	CCDS41753.1	12	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185391	0.21870	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000304084;ENST00000533022;ENST00000310002;ENST00000525605	T;T;T;T	0.16196	2.36;2.36;3.14;3.14	4.1	2.19	0.27852	C-type lectin-like (1);	0.135973	0.34484	N	0.003923	T	0.39655	0.1086	M	0.81341	2.54	0.09310	N	1	D;D;D;D;D;P;D	0.76494	0.985;0.959;0.978;0.978;0.999;0.941;0.959	P;P;P;P;D;P;P	0.83275	0.785;0.758;0.756;0.773;0.996;0.635;0.675	T	0.11665	-1.0578	10	0.72032	D	0.01	.	9.5862	0.39517	0.3042:0.6958:0.0:0.0	.	54;54;54;54;54;54;54	Q96D32;Q9BXN2-6;Q9BXN2-4;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;CLC7A_HUMAN;.	Y	54	ENSP00000266456:C54Y;ENSP00000298523:C54Y;ENSP00000302569:C54Y;ENSP00000431461:C54Y	ENSP00000298523:C54Y	C	-	2	0	CLEC7A	10171654	0.158000	0.22850	0.017000	0.16124	0.119000	0.20118	0.805000	0.27112	0.632000	0.30432	0.591000	0.81541	TGC	-	NULL		0.453	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC7A	protein_coding	OTTHUMT00000390772.1	C	NM_197954	-		10280387	-1	no_errors	ENST00000304084	ensembl	human	known	74_37	missense	SNP	0.022	T	T	10280387	C	T	10280387	3	4	201	1	0	0	0	0	1	0	0	0	3523	710	25	2	638	2	CLEC7A	12	10280387	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09		10280387	123571508	54	15920											
RPS26	6231	genome.wustl.edu	37	chr12	56436288	56436288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgctgcactaactgtgcccGatgcgtgcccaaggacaagg	12	13	0	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr12:56436288G>T	ENST00000356464.5	+	2	397	c.83G>T	c.(82-84)cGa>cTa	p.R28L	RP11-603J24.4_ENST00000551846.1_RNA|RPS26_ENST00000552361.1_Missense_Mutation_p.R28L			P62854	RS26_HUMAN	ribosomal protein S26	28					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTGTGCCCGATGCGTGCCC	0.527																																																	0								ENSG00000197728						40	41	41					12																	56436288		2202	4274	6476	RPS26	SO:0001583	missense	0			-	HGNC	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"S ribosomal proteins"	10414	protein-coding gene	gene with protein product	"40S ribosomal protein S26"	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.83G>T	12.37:g.56436288G>T	ENSP00000348849:p.Arg28Leu	Somatic	0	70	0		0.599270127213081	459	17.27	96	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	74	12.79	P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Missense_Mutation	SNP							pfam_Ribosomal_S26e	p.R28L	ENST00000356464.5	37	c.83	CCDS31832.1	12	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913742	0.72983	.	.	ENSG00000197728	ENST00000356464;ENST00000552361	D;D	0.92099	-2.97;-2.97	4.43	3.51	0.40186	.	0.000000	0.64402	U	0.000002	D	0.93943	0.8061	M	0.91459	3.21	0.58432	D	0.999999	B	0.29805	0.257	B	0.37304	0.246	D	0.93559	0.6893	10	0.59425	D	0.04	.	12.7216	0.57146	0.0:0.0:0.8336:0.1664	.	28	P62854	RS26_HUMAN	L	28	ENSP00000348849:R28L;ENSP00000450339:R28L	ENSP00000348849:R28L	R	+	2	0	RPS26	54722555	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	9.235000	0.95353	1.156000	0.42514	0.563000	0.77884	CGA	-	pfam_Ribosomal_S26e		0.527	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS26	protein_coding	OTTHUMT00000407616.1	G	NM_001029	-		56436288	1	no_errors	ENST00000356464	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56436288	G	T	56436288	3	4	201	1	0	0	0	0	1	0	0	0	13645	1058	37	3	89	3	RPS26	12	56436288	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	46155901	56436288	77415607	55	15921											
ATP2B1	490	genome.wustl.edu	37	chr12	90028950	90028950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctaacaccacacacactacaGacaagaggattgcagctcct	6	14	0	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr12:90028950G>C	ENST00000428670.3	-	4	941	c.485C>G	c.(484-486)tCt>tGt	p.S162C	ATP2B1_ENST00000359142.3_Missense_Mutation_p.S162C|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S162C|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S162C			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	162					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACACACTACAGACAAGAGGAT	0.413																																																	0								ENSG00000070961						123	105	111					12																	90028950		2203	4300	6503	ATP2B1	SO:0001583	missense	0			-	HGNC	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.485C>G	12.37:g.90028950G>C	ENSP00000392043:p.Ser162Cys	Somatic	0	71	0		0.599270127213081	11	26.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	20.00	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.S162C	ENST00000428670.3	37	c.485	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828077	0.90955	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.94689	0.8287	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.964	D;D	0.85130	0.997;0.946	D	0.93736	0.7046	9	.	.	.	0.6682	20.1615	0.98135	0.0:0.0:1.0:0.0	.	162;162	P20020-3;P20020-2	.;.	C	162	ENSP00000261173:S162C;ENSP00000343599:S162C;ENSP00000352054:S162C;ENSP00000392043:S162C	.	S	-	2	0	ATP2B1	88553081	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	TCT	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase		0.413	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	protein_coding	OTTHUMT00000406653.1	G	NM_001682	-		90028950	-1	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90028950	G	C	90028950	3	2	201	1	0	0	0	0	1	0	0	0	1139	942	33	4	3407	4	ATP2B1	12	90028950	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	33592662	90028950	43822945	56	15922											
GAS2L3	283431	genome.wustl.edu	37	chr12	100994198	100994198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctaagtcctcggagTcctctgactcccagacacgg	9	16	2	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr12:100994198T>C	ENST00000539410.1	+	3	443	c.57T>C	c.(55-57)agT>agC	p.S19S	GAS2L3_ENST00000266754.5_Silent_p.S19S|GAS2L3_ENST00000547754.1_Silent_p.S19S|GAS2L3_ENST00000537247.1_5'UTR			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	19					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GTCCTCGGAGTCCTCTGACTC	0.423																																																	0								ENSG00000139354						141	131	134					12																	100994198		2203	4300	6503	GAS2L3	SO:0001819	synonymous_variant	0			-	HGNC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.57T>C	12.37:g.100994198T>C		Somatic	0	52	0		0.599270127213081	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	53	10.17	B2RCN2	Silent	SNP							pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S19	ENST00000539410.1	37	c.57	CCDS9079.1	12																																																																																			-	NULL		0.423	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	protein_coding	OTTHUMT00000409143.1	T	NM_174942	-		100994198	1	no_errors	ENST00000266754	ensembl	human	known	74_37	silent	SNP	1.000	C	C	100994198	T	C	100994198	2	2	201	1	0	0	0	0	0	0	0	1	6250	1664	58	5		5	GAS2L3	12	100994198	Silent	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09	10965248	100994198	32857697	57	15923											
CUX2	23316	genome.wustl.edu	37	chr12	111472033	111472033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggaagcgatttgatctaCggcgactccaggttagtgcg	13	8	1	1	rs576939929	byFrequency	TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr12:111472033C>T	ENST00000261726.6	+	1	206	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	18					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ATTTGATCTACGGCGACTCCA	0.647													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		4097	0		0	False		,,,				2504	0																0								ENSG00000111249						68	72	71					12																	111472033		2203	4300	6503	CUX2	SO:0001583	missense	0			-	HGNC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.52C>T	12.37:g.111472033C>T	ENSP00000261726:p.Arg18Trp	Somatic	0	31	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A7E2Y4	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R18W	ENST00000261726.6	37	c.52	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651393	0.47362	.	.	ENSG00000111249	ENST00000261726	T	0.30714	1.52	2.52	2.52	0.30459	.	1.179390	0.06457	U	0.728833	T	0.21347	0.0514	N	0.08118	0	0.31003	N	0.720116	D	0.56287	0.975	B	0.42798	0.398	T	0.38134	-0.9675	10	0.66056	D	0.02	-1.6837	13.4269	0.61030	0.0:1.0:0.0:0.0	.	18	O14529	CUX2_HUMAN	W	18	ENSP00000261726:R18W	ENSP00000261726:R18W	R	+	1	2	CUX2	109956416	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	3.811000	0.55620	1.395000	0.46643	0.306000	0.20318	CGG	-	NULL		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	protein_coding	OTTHUMT00000404765.1	C	NM_015267	-		111472033	1	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111472033	C	T	111472033	3	4	201	1	0	0	0	0	1	0	0	0	4067	527	19	1	54	1	CUX2	12	111472033	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	10477835	111472033	22379862	58	15924											
PSPC1	55269	genome.wustl.edu	37	chr13	20325550	20325550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagagccttccatcgagaTgcatactcaaattcaaatgt	6	10	3	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr13:20325550T>C	ENST00000338910.4	-	4	987	c.828A>G	c.(826-828)gcA>gcG	p.A276A		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	276	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCCATCGAGATGCATACTCAA	0.403																																																	0								ENSG00000121390						132	119	123					13																	20325550		1900	4121	6021	PSPC1	SO:0001819	synonymous_variant	0			-	HGNC	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.828A>G	13.37:g.20325550T>C		Somatic	0	68	0		0.599270127213081	17	82.29	79	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Silent	SNP							pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.A276	ENST00000338910.4	37	c.828	CCDS41870.1	13																																																																																			-	pfam_NOPS		0.403	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	protein_coding	OTTHUMT00000044037.2	T		-		20325550	-1	no_errors	ENST00000338910	ensembl	human	known	74_37	silent	SNP	0.983	C	C	20325550	T	C	20325550	2	2	201	1	0	0	0	0	0	0	0	1	12721	1451	51	5		5	PSPC1	13	20325550	Silent	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09		20325550	94844328	59	15925											
RASA3	22821	genome.wustl.edu	37	chr13	114762103	114762103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggtggtagacggtgaggCgcttctggttgcactggctc	17	9	1	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr13:114762103C>T	ENST00000334062.7	-	21	2166	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	RASA3_ENST00000389544.4_Missense_Mutation_p.R650H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	682					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GACGGTGAGGCGCTTCTGGTT	0.637																																																	0								ENSG00000185989						169	125	140					13																	114762103		2203	4300	6503	RASA3	SO:0001583	missense	0			-	HGNC		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2045G>A	13.37:g.114762103C>T	ENSP00000335029:p.Arg682His	Somatic	0	44	0		0.599270127213081	68	20	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP							pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R682H	ENST00000334062.7	37	c.2045	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669587	0.67814	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.93763	-3.28;-3.28	5.37	5.37	0.77165	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97125	0.9814	9	.	.	.	.	19.0948	0.93246	0.0:1.0:0.0:0.0	.	682	Q14644	RASA3_HUMAN	H	682;650	ENSP00000335029:R682H;ENSP00000374195:R650H	.	R	-	2	0	RASA3	113780205	1.000000	0.71417	0.041000	0.18516	0.045000	0.14185	5.426000	0.66476	2.499000	0.84300	0.561000	0.74099	CGC	-	smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif		0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	protein_coding	OTTHUMT00000045957.2	C	NM_007368	-		114762103	-1	no_errors	ENST00000334062	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114762103	C	T	114762103	3	4	201	1	0	0	0	0	1	0	0	0	13070	768	27	1	475	1	RASA3	13	114762103	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	94436553	114762103	407775	60	15926											
TMEM90A	646658	genome.wustl.edu	37	chr14	74876371	74876371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagctgggtggggtctccGggtagggataggggccatgg	20	8	1	0	rs367970781		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr14:74876371G>A	ENST00000554823.1	-	1	138	c.77C>T	c.(76-78)cCg>cTg	p.P26L	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.P26L			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	26					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGGGTCTCCGGGTAGGGATA	0.657																																																	0								ENSG00000183379	G	LEU/PRO	0,3876		0,0,1938	37	42	40		77	2.4	0.5	14		40	1,8275		0,1,4137	no	missense	SYNDIG1L	NM_001105579.1	98	0,1,6075	AA,AG,GG		0.0121,0.0,0.0082	benign	26/239	74876371	1,12151	1938	4138	6076	SYNDIG1L	SO:0001583	missense	0			-	HGNC		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.77C>T	14.37:g.74876371G>A	ENSP00000450439:p.Pro26Leu	Somatic	0	36	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92		Missense_Mutation	SNP							pfam_CD225/Dispanin_fam	p.P26L	ENST00000554823.1	37	c.77	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	G	1.701	-0.501463	0.04261	0.0	1.21E-4	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	D;D	0.95001	-3.58;-3.58	4.44	2.42	0.29668	.	0.438428	0.23197	N	0.050839	D	0.84138	0.5406	N	0.22421	0.69	0.18873	N	0.999983	P	0.38745	0.645	B	0.22880	0.042	T	0.75722	-0.3218	10	0.28530	T	0.3	-12.0407	6.6672	0.23047	0.0:0.2835:0.4563:0.2603	.	26	A6NDD5	SYN1L_HUMAN	L	26	ENSP00000331474:P26L;ENSP00000450439:P26L	ENSP00000331474:P26L	P	-	2	0	SYNDIG1L	73946124	0.489000	0.26004	0.456000	0.27044	0.001000	0.01503	0.788000	0.26872	1.082000	0.41137	-0.463000	0.05309	CCG	-	NULL		0.657	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	protein_coding	OTTHUMT00000412341.1	G	XM_938515	-		74876371	-1	no_errors	ENST00000331628	ensembl	human	known	74_37	missense	SNP	0.047	A	A	74876371	G	A	74876371	3	1	201	1	0	0	0	0	1	0	0	0	16225	1116	39	1	651	1	TMEM90A	14	74876371	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		74876371	32473169	61	15927											
TC2N	123036	genome.wustl.edu	37	chr14	92251695	92251695	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagctaaacattcccaccttCacgaaaaaacctaaaaaatt	3	11	1	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr14:92251695C>A	ENST00000435962.2	-	11	1496	c.1173G>T	c.(1171-1173)gtG>gtT	p.V391V	TC2N_ENST00000340892.5_Silent_p.V391V|TC2N_ENST00000360594.5_Silent_p.V391V|TC2N_ENST00000556018.1_Silent_p.V327V	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	391	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTCCCACCTTCACGAAAAAAC	0.323																																																	0								ENSG00000165929						110	123	118					14																	92251695		2203	4299	6502	TC2N	SO:0001819	synonymous_variant	0			-	HGNC	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1173G>T	14.37:g.92251695C>A		Somatic	0	39	0		0.599270127213081	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83		Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.V391	ENST00000435962.2	37	c.1173	CCDS9897.1	14																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.323	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	protein_coding	OTTHUMT00000411778.1	C	NM_152332	-		92251695	-1	no_errors	ENST00000340892	ensembl	human	known	74_37	silent	SNP	1.000	A	A	92251695	C	A	92251695	2	1	201	1	0	0	0	0	0	0	0	1	15672	813	29	3		3	TC2N	14	92251695	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	17375324	92251695	15097845	62	15928											
KIAA1409	57578	genome.wustl.edu	37	chr14	94008839	94008839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcacacccagtgagaacAcgcctacagaaagcttggcc	9	14	1	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr14:94008839A>C	ENST00000393151.2	+	14	1552	c.1552A>C	c.(1552-1554)Acg>Ccg	p.T518P	UNC79_ENST00000555664.1_Missense_Mutation_p.T518P|UNC79_ENST00000256339.4_Missense_Mutation_p.T341P|UNC79_ENST00000553484.1_Missense_Mutation_p.T518P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	518					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAGTGAGAACACGCCTACAGA	0.468																																																	0								ENSG00000133958						88	71	77					14																	94008839		2203	4300	6503	UNC79	SO:0001583	missense	0			-	HGNC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1552A>C	14.37:g.94008839A>C	ENSP00000376858:p.Thr518Pro	Somatic	0	69	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	75	15.73	B5MDL6|Q6ZUT7	Missense_Mutation	SNP							superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.T518P	ENST00000393151.2	37	c.1552		14	.	.	.	.	.	.	.	.	.	.	A	27.0	4.786510	0.90367	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.25537	-1.0129	10	0.72032	D	0.01	-16.4124	16.1673	0.81777	1.0:0.0:0.0:0.0	.	518	C9JQL1	.	P	341;518;518;518;518	ENSP00000256339:T341P;ENSP00000450868:T518P;ENSP00000451360:T518P;ENSP00000376858:T518P	ENSP00000256339:T341P	T	+	1	0	KIAA1409	93078592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.292000	0.96076	2.207000	0.71202	0.533000	0.62120	ACG	-	NULL		0.468	UNC79-006	KNOWN	basic	protein_coding	UNC79	protein_coding	OTTHUMT00000412766.1	A	XM_028395	-		94008839	1	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	SNP	1.000	C	C	94008839	A	C	94008839	3	2	201	1	0	0	0	0	1	0	0	0	8232	159	6	5	1063	5	KIAA1409	14	94008839	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	1757144	94008839	13340701	63	15929											
MKRN3	7681	genome.wustl.edu	37	chr15	23811912	23811912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaccccaatgaccgccGctttggcattctttccaatt	7	15	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr15:23811912G>A	ENST00000314520.3	+	1	1459	c.983G>A	c.(982-984)cGc>cAc	p.R328H	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	328					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AATGACCGCCGCTTTGGCATT	0.493																																																	0								ENSG00000179455						113	95	101					15																	23811912		2203	4300	6503	MKRN3	SO:0001583	missense	0			-	HGNC	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.983G>A	15.37:g.23811912G>A	ENSP00000313881:p.Arg328His	Somatic	0	49	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00		Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.R328H	ENST00000314520.3	37	c.983	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399679	0.83120	.	.	ENSG00000179455	ENST00000314520	T	0.67698	-0.28	4.07	4.07	0.47477	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85421	0.1143	10	0.72032	D	0.01	.	14.5895	0.68354	0.0:0.0:1.0:0.0	.	328	Q13064	MKRN3_HUMAN	H	328	ENSP00000313881:R328H	ENSP00000313881:R328H	R	+	2	0	MKRN3	21363005	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.986000	0.93492	2.567000	0.86603	0.655000	0.94253	CGC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.493	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	protein_coding	OTTHUMT00000251225.1	G	NM_005664	-		23811912	1	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23811912	G	A	23811912	3	1	201	1	0	0	0	0	1	0	0	0	9610	1087	38	1	985	1	MKRN3	15	23811912	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		23811912	78719480	64	15930											
DUOX2	50506	genome.wustl.edu	37	chr15	45404811	45404811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccggctatgccccgcGtggctgcgttgctgagccgg	17	14	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr15:45404811G>T	ENST00000603300.1	-	4	468	c.266C>A	c.(265-267)aCg>aAg	p.T89K	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.T89K	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	89	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TATGCCCCGCGTGGCTGCGTT	0.672																																																	0								ENSG00000140279						27	30	29					15																	45404811		2191	4277	6468	DUOX2	SO:0001583	missense	0			-	HGNC	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.266C>A	15.37:g.45404811G>T	ENSP00000475084:p.Thr89Lys	Somatic	0	56	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.T89K	ENST00000603300.1	37	c.266	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822498	0.32237	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	-4.17	0.03857	.	0.599472	0.18704	N	0.133484	T	0.41166	0.1147	L	0.56769	1.78	0.09310	N	1	B	0.28208	0.203	B	0.34093	0.175	T	0.45440	-0.9261	9	0.54805	T	0.06	-0.0516	10.917	0.47142	0.198:0.0925:0.7095:0.0	.	89	Q9NRD8	DUOX2_HUMAN	K	89	.	ENSP00000373691:T89K	T	-	2	0	DUOX2	43192103	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.039000	0.13884	-0.650000	0.05423	0.561000	0.74099	ACG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.672	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	protein_coding		G	NM_014080	-		45404811	-1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	SNP	0.000	T	T	45404811	G	T	45404811	3	4	201	1	0	0	0	0	1	0	0	0	4803	1145	40	3	4504	3	DUOX2	15	45404811	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	21592899	45404811	57126581	65	15931											
PAQR5	54852	genome.wustl.edu	37	chr15	69682069	69682069	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgactactacgtggcCctggctgtactgaacaccat	8	13	0	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr15:69682069C>A	ENST00000340965.3	+	6	1130	c.462C>A	c.(460-462)gcC>gcA	p.A154A	PAQR5_ENST00000561153.1_Silent_p.A154A|PAQR5_ENST00000395407.2_Silent_p.A154A|RP11-253M7.6_ENST00000560870.1_RNA|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	154					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACTACGTGGCCCTGGCTGTAC	0.582																																																	0								ENSG00000137819						166	122	137					15																	69682069		2199	4298	6497	PAQR5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.462C>A	15.37:g.69682069C>A		Somatic	0	53	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q8IXU2	Silent	SNP							pfam_HlyIII-related	p.A154	ENST00000340965.3	37	c.462	CCDS10232.1	15																																																																																			-	pfam_HlyIII-related		0.582	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	protein_coding	OTTHUMT00000416671.1	C	NM_017705	-		69682069	1	no_errors	ENST00000340965	ensembl	human	known	74_37	silent	SNP	0.213	A	A	69682069	C	A	69682069	2	1	201	1	0	0	0	0	0	0	0	1	11440	610	22	3		3	PAQR5	15	69682069	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	24277258	69682069	32849323	66	15932											
BNC1	646	genome.wustl.edu	37	chr15	83926276	83926276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttcgactgcgaacagacGaaaacatggtgttgcagcct	11	9	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr15:83926276G>A	ENST00000345382.2	-	5	2988	c.2903C>T	c.(2902-2904)tCg>tTg	p.S968L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S961L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	968					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCGAACAGACGAAAACATGGT	0.498																																																	0								ENSG00000169594						154	148	150					15																	83926276		2203	4300	6503	BNC1	SO:0001583	missense	0			-	HGNC	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2903C>T	15.37:g.83926276G>A	ENSP00000307041:p.Ser968Leu	Somatic	0	58	0		0.599270127213081	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	24	57.14	Q15840	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S968L	ENST00000345382.2	37	c.2903	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.571926	0.96553	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.52983	0.64	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.71464	-0.4585	10	0.87932	D	0	-14.6891	20.3398	0.98759	0.0:0.0:1.0:0.0	.	961;968	F5GY04;Q01954	.;BNC1_HUMAN	L	968;961	ENSP00000307041:S968L	ENSP00000307041:S968L	S	-	2	0	BNC1	81717280	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	9.787000	0.99055	2.811000	0.96726	0.557000	0.71058	TCG	-	smart_Znf_C2H2-like		0.498	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	protein_coding	OTTHUMT00000304006.1	G	NM_001717	-		83926276	-1	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	SNP	1.000	A	A	83926276	G	A	83926276	3	1	201	1	0	0	0	0	1	0	0	0	1474	1059	37	1	85	1	BNC1	15	83926276	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	14244207	83926276	18605116	67	15933											
CES7	221223	genome.wustl.edu	37	chr16	55909115	55909115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattaggatctggcctgggtGcacccaattcccactcattt	8	12	2	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr16:55909115G>T	ENST00000290567.9	-	1	140	c.19C>A	c.(19-21)Cac>Aac	p.H7N	CES5A_ENST00000319165.9_Missense_Mutation_p.H7N|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.H7N|CES5A_ENST00000521992.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	7						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGCCTGGGTGCACCCAATTC	0.567																																																	0								ENSG00000159398						113	108	110					16																	55909115		2198	4300	6498	CES5A	SO:0001583	missense	0			-	HGNC	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.19C>A	16.37:g.55909115G>T	ENSP00000290567:p.His7Asn	Somatic	0	52	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.H7N	ENST00000290567.9	37	c.19	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	G	4.289	0.052877	0.08291	.	.	ENSG00000159398	ENST00000319165;ENST00000290567;ENST00000520435	T;T;T	0.67865	-0.29;-0.18;-0.29	4.31	0.19	0.15125	.	2.038100	0.02043	N	0.049443	T	0.49218	0.1544	N	0.19112	0.55	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.32864	0.107;0.154	T	0.39057	-0.9632	10	0.28530	T	0.3	.	6.6574	0.22994	0.3984:0.0:0.6016:0.0	.	7;7	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	N	7	ENSP00000324271:H7N;ENSP00000290567:H7N;ENSP00000428887:H7N	ENSP00000290567:H7N	H	-	1	0	CES5A	54466616	0.000000	0.05858	0.020000	0.16555	0.029000	0.11900	0.187000	0.16998	0.081000	0.16988	-0.157000	0.13467	CAC	-	NULL		0.567	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	protein_coding	OTTHUMT00000256975.3	G	NM_145024	-		55909115	-1	no_errors	ENST00000290567	ensembl	human	known	74_37	missense	SNP	0.021	T	T	55909115	G	T	55909115	3	4	201	1	0	0	0	0	1	0	0	0	3274	1319	46	3	1760	3	CES7	16	55909115	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		55909115	34445638	68	15934											
COG8	84342	genome.wustl.edu	37	chr16	69368746	69368746	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggagccaactgacccCggaaatcagctcccacccgg	9	16	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr16:69368746C>G	ENST00000306875.4	-	3	1205	c.1091G>C	c.(1090-1092)cGg>cCg	p.R364P	COG8_ENST00000562081.1_Missense_Mutation_p.R364P|RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.R10P	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	364					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAACTGACCCCGGAAATCAGC	0.557																																																	0								ENSG00000213380						62	67	65					16																	69368746		2198	4300	6498	COG8	SO:0001583	missense	0			-	HGNC	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1091G>C	16.37:g.69368746C>G	ENSP00000305459:p.Arg364Pro	Somatic	0	27	0		0.599270127213081	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP							pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant	p.R364P	ENST00000306875.4	37	c.1091	CCDS10876.1	16	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724476	0.68959	.	.	ENSG00000213380	ENST00000306875	T	0.56941	0.43	6.04	5.1	0.69264	Cullin repeat-like-containing domain (1);	0.050275	0.85682	N	0.000000	T	0.78362	0.4271	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83303	-0.0027	10	0.56958	D	0.05	-3.9149	17.6091	0.88047	0.0:0.8767:0.1232:0.0	.	391;364	B4DYU2;Q96MW5	.;COG8_HUMAN	P	364	ENSP00000305459:R364P	ENSP00000305459:R364P	R	-	2	0	COG8	67926247	1.000000	0.71417	0.999000	0.59377	0.534000	0.34807	5.743000	0.68655	1.580000	0.49851	-0.223000	0.12442	CGG	-	pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant		0.557	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	protein_coding	OTTHUMT00000268948.2	C	NM_032382	-		69368746	-1	no_errors	ENST00000306875	ensembl	human	known	74_37	missense	SNP	1.000	G	G	69368746	C	G	69368746	3	3	201	1	0	0	0	0	1	0	0	0	3666	652	23	4	759	4	COG8	16	69368746	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	13459631	69368746	20986007	69	15935											
TP53	7157	genome.wustl.edu	37	chr17	7577114	7577114	+	Frame_Shift_Del	DEL	C	C	-													ggtctctcccaggacaggcaCaaacacgcacctcaaagctg							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr17:7577114delC	ENST00000269305.4	-	8	1013	c.824delG	c.(823-825)tgtfs	p.C275fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.C275fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C275fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.C275fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C275fs|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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		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). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(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)	AGGACAGGCACAAACACGCAC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M		ENSG00000141510						71	61	64					17																	7577114		2203	4300	6503	TP53	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;		HGNC	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.824delG	17.37:g.7577114delC	ENSP00000269305:p.Cys275fs	Somatic	0	32	0		0.599270127213081	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275fs	ENST00000269305.4	37	c.824	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546			7577114	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	7577114	C	-	7577114	7	5	201	1	0	1	0	1	0	0	0	0	16388	478	17	0	462	0	TP53	17	7577114	Frame_Shift_Del	DEL	C	TCGA-QQ-A5VB-01A-11D-A36J-09		7577114	73618096	70	15936											
SREBF1	6720	genome.wustl.edu	37	chr17	17721201	17721201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgttccctccactgcCacaggccgacaccagatcct	8	17	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr17:17721201C>A	ENST00000261646.5	-	7	1397	c.1213G>T	c.(1213-1215)Ggc>Tgc	p.G405C	SREBF1_ENST00000395757.1_Missense_Mutation_p.G151C|SREBF1_ENST00000355815.4_Missense_Mutation_p.G435C|SREBF1_ENST00000435530.2_Missense_Mutation_p.G405C|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Missense_Mutation_p.G405C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	405	Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCTCCACTGCCACAGGCCGAC	0.582																																																	0								ENSG00000072310						85	87	87					17																	17721201		2203	4300	6503	SREBF1	SO:0001583	missense	0			-	HGNC	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1213G>T	17.37:g.17721201C>A	ENSP00000261646:p.Gly405Cys	Somatic	0	46	0		0.599270127213081	141	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G435C	ENST00000261646.5	37	c.1303	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.143|7.143	0.582211|0.582211	0.13749|0.13749	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530|ENST00000395751	T;T;T;T;T|.	0.78816|.	0.49;0.52;0.52;0.94;-1.21|.	4.61|4.61	-1.41|-1.41	0.08941|0.08941	Helix-loop-helix DNA-binding (1);|.	0.370146|.	0.27478|.	N|.	0.019185|.	T|T	0.53867|0.53867	0.1823|0.1823	M|M	0.69823|0.69823	2.125|2.125	0.32490|0.32490	N|N	0.540301|0.540301	B;B;B;B|.	0.27013|.	0.166;0.013;0.025;0.035|.	B;B;B;B|.	0.19666|.	0.017;0.009;0.01;0.026|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.54805|.	T|.	0.06|.	-11.9634|-11.9634	5.8848|5.8848	0.18876|0.18876	0.1263:0.4574:0.0:0.4163|0.1263:0.4574:0.0:0.4163	.|.	405;381;405;435|.	B0I4X3;B0I4X4;P36956;P36956-4|.	.;.;SRBP1_HUMAN;.|.	C|L	405;435;405;151;242;331;405|412	ENSP00000345822:G405C;ENSP00000348069:G435C;ENSP00000261646:G405C;ENSP00000379106:G151C;ENSP00000413389:G405C|.	ENSP00000261646:G405C|.	G|W	-|-	1|2	0|0	SREBF1|SREBF1	17661926|17661926	0.002000|0.002000	0.14202|0.14202	0.024000|0.024000	0.17045|0.17045	0.065000|0.065000	0.16274|0.16274	-0.017000|-0.017000	0.12590|0.12590	0.078000|0.078000	0.16900|0.16900	0.561000|0.561000	0.74099|0.74099	GGC|TGG	-	superfamily_bHLH_dom		0.582	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	protein_coding	OTTHUMT00000131771.1	C	NM_004176	-		17721201	-1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	SNP	0.199	A	A	17721201	C	A	17721201	3	1	201	1	0	0	0	0	1	0	0	0	15148	594	21	3	2282	3	SREBF1	17	17721201	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	10144087	17721201	63474009	71	15937											
ABHD15	116236	genome.wustl.edu	37	chr17	27889595	27889595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttcaccttgtgtatgatCgcttccagttaaagatctcc	6	11	3	2	rs528380562		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr17:27889595C>T	ENST00000307201.4	-	2	1561	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	464						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TGTGTATGATCGCTTCCAGTT	0.567													C|||	1	0.000199681	0	0	5008	,	,		16771	0		0.001	False		,,,				2504	0																0								ENSG00000168792						81	89	86					17																	27889595		2203	4300	6503	ABHD15	SO:0001583	missense	0			-	HGNC	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1391G>A	17.37:g.27889595C>T	ENSP00000302657:p.Arg464Gln	Somatic	0	37	0		0.599270127213081	12	47.83	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	20	47.37	Q96EC5	Missense_Mutation	SNP							pirsf_AB-Hydro_YheT	p.R464Q	ENST00000307201.4	37	c.1391	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.419589	0.96111	.	.	ENSG00000168792	ENST00000307201	T	0.39056	1.1	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.55940	0.1952	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.57100	-0.7869	10	0.87932	D	0	-10.1909	17.4866	0.87691	0.0:1.0:0.0:0.0	.	464	Q6UXT9	ABH15_HUMAN	Q	464	ENSP00000302657:R464Q	ENSP00000302657:R464Q	R	-	2	0	ABHD15	24913721	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	6.412000	0.73303	2.745000	0.94114	0.655000	0.94253	CGA	-	NULL		0.567	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	protein_coding	OTTHUMT00000447796.2	C	NM_198147	-		27889595	-1	no_errors	ENST00000307201	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27889595	C	T	27889595	3	4	201	1	0	0	0	0	1	0	0	0	81	884	31	1	19	1	ABHD15	17	27889595	Missense_Mutation	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	10168394	27889595	53305615	72	15938											
KRTAP4-7	100132476	genome.wustl.edu	37	chr17	39240828	39240828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgctgcctgcgtccaGtctgtggccgagtctcctgc	12	16	2	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr17:39240828G>A	ENST00000391417.4	+	1	370	c.370G>A	c.(370-372)Gtc>Atc	p.V124I		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	179	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cCTGCGTCCAGTCTGTGGCCG	0.657																																																	0								ENSG00000240871						36	36	36					17																	39240828		692	1591	2283	KRTAP4-7	SO:0001583	missense	0			-	HGNC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.370G>A	17.37:g.39240828G>A	ENSP00000375236:p.Val124Ile	Somatic	0	104	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	28	56.06	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP							pfam_Keratin-assoc	p.V124I	ENST00000391417.4	37	c.370	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	13.10	2.136137	0.37728	.	.	ENSG00000240871	ENST00000391417	T	0.00605	6.27	3.17	2.15	0.27550	.	.	.	.	.	T	0.00637	0.0021	.	.	.	0.25808	N	0.98443	P	0.38280	0.625	B	0.38156	0.266	T	0.51309	-0.8722	8	0.72032	D	0.01	.	7.4682	0.27334	0.0:0.0:0.7416:0.2584	.	179	Q9BYR0	KRA47_HUMAN	I	124	ENSP00000375236:V124I	ENSP00000375236:V124I	V	+	1	0	KRTAP4-7	36494354	0.141000	0.22595	0.919000	0.36401	0.874000	0.50279	-0.503000	0.06383	0.610000	0.30035	0.305000	0.20034	GTC	-	NULL		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	protein_coding	OTTHUMT00000257686.1	G		-		39240828	1	no_errors	ENST00000391417	ensembl	human	known	74_37	missense	SNP	0.993	A	A	39240828	G	A	39240828	3	1	201	1	0	0	0	0	1	0	0	0	8557	1029	36	2	372	2	KRTAP4-7	17	39240828	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	11351233	39240828	41954382	73	15939											
KIF19	124602	genome.wustl.edu	37	chr17	72339230	72339230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctatgttcagaccctcaaCgacctcttccgtgccatcga	6	15	4	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr17:72339230C>T	ENST00000389916.4	+	5	525	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	129	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGACCCTCAACGACCTCTTCC	0.592																																																	0								ENSG00000196169						97	75	82					17																	72339230		2203	4300	6503	KIF19	SO:0001819	synonymous_variant	0			-	HGNC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.387C>T	17.37:g.72339230C>T		Somatic	0	46	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.N129	ENST00000389916.4	37	c.387	CCDS32718.2	17																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	C	NM_153209	-		72339230	1	no_errors	ENST00000389916	ensembl	human	known	74_37	silent	SNP	0.903	T	T	72339230	C	T	72339230	2	4	201	1	0	0	0	0	0	0	0	1	8284	535	19	1		1	KIF19	17	72339230	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	33098402	72339230	8855980	74	15940											
PTPRM	5797	genome.wustl.edu	37	chr18	8376094	8376094	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttcacttcactggctgGccggatcatggggtccccta	11	13	3	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr18:8376094G>A	ENST00000332175.8	+	23	4220	c.3183G>A	c.(3181-3183)tgG>tgA	p.W1061*	PTPRM_ENST00000400060.4_Nonsense_Mutation_p.W1075*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.W999*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.W848*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.W1074*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1061	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCACTGGCTGGCCGGATCATG	0.562																																																	0								ENSG00000173482						76	75	76					18																	8376094		2203	4300	6503	PTPRM	SO:0001587	stop_gained	0			-	HGNC	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3183G>A	18.37:g.8376094G>A	ENSP00000331418:p.Trp1061*	Somatic	0	64	0		0.599270127213081	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.W1075*	ENST00000332175.8	37	c.3225	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	51	17.503901	0.99888	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	6.04	6.04	0.98038	.	0.113475	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6524	0.99598	0.0:0.0:1.0:0.0	.	.	.	.	X	1061;1075;999;848	.	ENSP00000331418:W1061X	W	+	3	0	PTPRM	8366094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	TGG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.562	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	G		-		8376094	1	no_errors	ENST00000400060	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	8376094	G	A	8376094	4	1	201	1	0	0	0	0	0	1	0	0	12814	1212	42	2	3320	2	PTPRM	18	8376094	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		8376094	69701154	75	15941											
LAMA3	3909	genome.wustl.edu	37	chr18	21293904	21293904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagttctgtgactattgCaattctgaagaccccaggaa	10	10	2	3			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr18:21293904C>T	ENST00000313654.9	+	2	556	c.315C>T	c.(313-315)tgC>tgT	p.C105C	LAMA3_ENST00000399516.3_Silent_p.C105C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	105	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)					GTGACTATTGCAATTCTGAAG	0.393																																																	0								ENSG00000053747						70	65	67					18																	21293904		1883	4118	6001	LAMA3	SO:0001819	synonymous_variant	0			-	HGNC	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.315C>T	18.37:g.21293904C>T		Somatic	0	40	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.C105	ENST00000313654.9	37	c.315	CCDS42419.1	18																																																																																			-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.393	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129	-		21293904	1	no_errors	ENST00000313654	ensembl	human	known	74_37	silent	SNP	1.000	T	T	21293904	C	T	21293904	2	4	201	1	0	0	0	0	0	0	0	1	8609	718	25	2		2	LAMA3	18	21293904	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	12917810	21293904	56783344	76	15942											
ZNF407	55628	genome.wustl.edu	37	chr18	72775903	72775903	+	Frame_Shift_Del	DEL	T	T	-													aggagcgggcacaggtggccTtcaagaagatggtccagggc							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr18:72775903delT	ENST00000299687.5	+	8	6226	c.6226delT	c.(6226-6228)ttcfs	p.F2076fs		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2076					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACAGGTGGCCTTCAAGAAGAT	0.667																																																	0								ENSG00000215421						43	50	47					18																	72775903		2126	4233	6359	ZNF407	SO:0001589	frameshift_variant	0				HGNC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6226delT	18.37:g.72775903delT	ENSP00000299687:p.Phe2076fs	Somatic	0	33	0		0.599270127213081	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.F2076fs	ENST00000299687.5	37	c.6226	CCDS45885.1	18																																																																																			-	NULL		0.667	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	protein_coding	OTTHUMT00000444903.1	T	NM_017757			72775903	1	no_errors	ENST00000299687	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	72775903	T	-	72775903	7	5	201	1	0	1	0	1	0	0	0	0	17894	1609	56	0	6386	0	ZNF407	18	72775903	Frame_Shift_Del	DEL	T	TCGA-QQ-A5VB-01A-11D-A36J-09	51481999	72775903	5301345	77	15943											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2425956	2425956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacccctggcctgcagggAgccctctggacggtgggtgc	18	13	1	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr19:2425956A>C	ENST00000332578.3	+	17	3050	c.3050A>C	c.(3049-3051)gAg>gCg	p.E1017A	TIMM13_ENST00000215570.3_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	1017	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GCCTGCAGGGAGCCCTCTGGA	0.652																																																	0								ENSG00000178297						61	65	64					19																	2425956		2203	4300	6503	TMPRSS9	SO:0001583	missense	0			-	HGNC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.3050A>C	19.37:g.2425956A>C	ENSP00000330264:p.Glu1017Ala	Somatic	0	175	0		0.599270127213081	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	63	38.83	Q6ZND6|Q7Z411	Missense_Mutation	SNP							pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.E1017A	ENST00000332578.3	37	c.3050	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579642	0.46006	.	.	ENSG00000178297	ENST00000332578	D	0.88586	-2.4	4.66	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000053	D	0.86209	0.5878	N	0.21545	0.675	0.80722	D	1	P	0.50943	0.94	P	0.55011	0.766	D	0.83805	0.0238	10	0.44086	T	0.13	.	9.2498	0.37549	0.9116:0.0:0.0884:0.0	.	1017	Q7Z410	TMPS9_HUMAN	A	1017	ENSP00000330264:E1017A	ENSP00000330264:E1017A	E	+	2	0	TMPRSS9	2376956	1.000000	0.71417	0.997000	0.53966	0.216000	0.24613	6.151000	0.71806	0.627000	0.30340	-0.411000	0.06167	GAG	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.652	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	protein_coding	OTTHUMT00000451330.3	A	NM_182973	-		2425956	1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2425956	A	C	2425956	3	2	201	1	0	0	0	0	1	0	0	0	16260	304	11	5	3116	5	TMPRSS9	19	2425956	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09		2425956	56703027	78	15944											
LRG1	116844	genome.wustl.edu	37	chr19	4538518	4538518	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagagctttcaggccgtgtaGccacgagacctccaggacct	11	14	1	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr19:4538518G>C	ENST00000306390.6	-	2	938	c.478C>G	c.(478-480)Cta>Gta	p.L160V	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	160					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCGTGTAGCCACGAGACC	0.662																																																	0								ENSG00000171236						53	59	57					19																	4538518		2203	4300	6503	LRG1	SO:0001583	missense	0			-	HGNC		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.478C>G	19.37:g.4538518G>C	ENSP00000302621:p.Leu160Val	Somatic	0	60	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	76	15.56	Q8N4F5|Q96QZ4	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L160V	ENST00000306390.6	37	c.478	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	11.24	1.579411	0.28180	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.61742	0.08	4.71	4.71	0.59529	.	0.000000	0.32769	N	0.005663	T	0.73032	0.3535	M	0.73962	2.25	0.18873	N	0.999988	D	0.59767	0.986	D	0.66716	0.946	T	0.66073	-0.6014	10	0.66056	D	0.02	-18.1772	13.0078	0.58715	0.0:0.0:1.0:0.0	.	160	P02750	A2GL_HUMAN	V	160;143	ENSP00000302621:L160V	ENSP00000302621:L160V	L	-	1	2	LRG1	4489518	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	4.161000	0.58170	2.446000	0.82766	0.655000	0.94253	CTA	-	NULL		0.662	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	protein_coding	OTTHUMT00000458654.2	G	NM_052972	-		4538518	-1	no_errors	ENST00000306390	ensembl	human	known	74_37	missense	SNP	0.324	C	C	4538518	G	C	4538518	3	2	201	1	0	0	0	0	1	0	0	0	8944	962	34	4	569	4	LRG1	19	4538518	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	2112562	4538518	54590465	79	15945											
ZNF536	9745	genome.wustl.edu	37	chr19	30935048	30935048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggcgtgggcgtgtgcgCgaggagaaccgcctgctgca	19	10	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692																																																	0								ENSG00000198597						17	13	15					19																	30935048		2193	4290	6483	ZNF536	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.579C>T	19.37:g.30935048C>T		Somatic	0	48	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	A2RU18	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R193	ENST00000355537.3	37	c.579	CCDS32984.1	19																																																																																			-	NULL		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	C	NM_014717	-		30935048	1	no_errors	ENST00000355537	ensembl	human	known	74_37	silent	SNP	0.622	T	T	30935048	C	T	30935048	2	4	201	1	0	0	0	0	0	0	0	1	17981	755	27	1		1	ZNF536	19	30935048	Silent	SNP	C	TCGA-QQ-A5VB-01A-11D-A36J-09	26396530	30935048	28193935	80	15946											
ZNF234	10780	genome.wustl.edu	37	chr19	44653051	44653051	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaacctgctgtcagtggGtgaggacatgagctttctaa	13	8	2	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr19:44653051G>A	ENST00000426739.2	+	4	400		c.e4+1		ZNF234_ENST00000592437.1_Splice_Site	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234						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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CTGTCAGTGGGTGAGGACATG	0.498																																																	0								ENSG00000263002						134	131	132					19																	44653051		2203	4300	6503	ZNF234	SO:0001630	splice_region_variant	0			-	HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.142+1G>A	19.37:g.44653051G>A		Somatic	0	87	0		0.599270127213081	2	95.92	47	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	83	13.40	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Splice_Site	SNP							-	e2+1	ENST00000426739.2	37	c.142+1	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253489	0.39797	.	.	ENSG00000167380	ENST00000426739	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0647	0.71983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF226	49344891	1.000000	0.71417	0.997000	0.53966	0.455000	0.32408	3.745000	0.55119	2.122000	0.65172	0.561000	0.74099	.	-	-		0.498	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	G		-	Intron	44653051	1	no_errors	ENST00000426739	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	44653051	G	A	44653051	5	1	201	1	0	0	0	0	0	0	1	0	17794	1275	44	2	149	2	ZNF234	19	44653051	Splice_Site	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	13718003	44653051	14475932	81	15947											
KCNA7	3743	genome.wustl.edu	37	chr19	49575626	49575626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgcccaccggactGgtagtagtagagcacggcgt	14	14	0	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr19:49575626G>T	ENST00000221444.1	-	1	572	c.217C>A	c.(217-219)Cag>Aag	p.Q73K		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	73					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CCACCGGACTGGTAGTAGTAG	0.726																																					Colon(74;686 1235 3793 23366 48562)												0								ENSG00000104848						10	13	12					19																	49575626		2095	4074	6169	KCNA7	SO:0001583	missense	0			-	HGNC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.217C>A	19.37:g.49575626G>T	ENSP00000221444:p.Gln73Lys	Somatic	0	20	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A1KYX7|Q9BYS4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.Q73K	ENST00000221444.1	37	c.217	CCDS12755.1	19	.	.	.	.	.	.	.	.	.	.	g	31	5.104755	0.94245	.	.	ENSG00000104848	ENST00000221444	T	0.76186	-1.0	3.54	3.54	0.40534	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.065445	0.64402	D	0.000005	D	0.87815	0.6272	M	0.91406	3.205	0.58432	D	0.99999	D	0.76494	0.999	D	0.71184	0.972	D	0.90808	0.4699	10	0.72032	D	0.01	.	14.453	0.67397	0.0:0.0:1.0:0.0	.	73	Q96RP8	KCNA7_HUMAN	K	73	ENSP00000221444:Q73K	ENSP00000221444:Q73K	Q	-	1	0	KCNA7	54267438	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.074000	0.93998	2.031000	0.59945	0.473000	0.43528	CAG	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl		0.726	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	protein_coding	OTTHUMT00000466263.1	G	NM_031886	-		49575626	-1	no_errors	ENST00000221444	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49575626	G	T	49575626	3	4	201	1	0	0	0	0	1	0	0	0	8010	1357	47	3	1161	3	KCNA7	19	49575626	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	4922575	49575626	9553357	82	15948											
CRNKL1	51340	genome.wustl.edu	37	chr20	20024254	20024254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagagttcttgggcatctTgttttgaaattctgtccagg	10	6	3	2			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr20:20024254T>C	ENST00000377340.2	-	8	1368	c.1337A>G	c.(1336-1338)cAa>cGa	p.Q446R	CRNKL1_ENST00000377327.4_Missense_Mutation_p.Q434R|CRNKL1_ENST00000536226.1_Missense_Mutation_p.Q285R	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	446	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTGGGCATCTTGTTTTGAAAT	0.378																																																	0								ENSG00000101343						98	100	99					20																	20024254		2203	4300	6503	CRNKL1	SO:0001583	missense	0			-	HGNC	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1337A>G	20.37:g.20024254T>C	ENSP00000366557:p.Gln446Arg	Somatic	0	60	0		0.599270127213081	10	76.74	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP							pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.Q446R	ENST00000377340.2	37	c.1337	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376385	0.61735	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.08984	3.03;3.03;3.03	6.07	6.07	0.98685	.	0.302356	0.39909	N	0.001229	T	0.10766	0.0263	L	0.43152	1.355	0.58432	D	0.999999	B	0.22480	0.07	B	0.25987	0.065	T	0.12630	-1.0540	10	0.30078	T	0.28	-11.7156	16.6288	0.85011	0.0:0.0:0.0:1.0	.	446	Q9BZJ0	CRNL1_HUMAN	R	434;446;285	ENSP00000366544:Q434R;ENSP00000366557:Q446R;ENSP00000440733:Q285R	ENSP00000366544:Q434R	Q	-	2	0	CRNKL1	19972254	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	6.177000	0.71961	2.326000	0.78906	0.533000	0.62120	CAA	-	smart_HAT		0.378	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	protein_coding	OTTHUMT00000127787.1	T		-		20024254	-1	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	SNP	1.000	C	C	20024254	T	C	20024254	3	2	201	1	0	0	0	0	1	0	0	0	3893	1812	63	5	1241	5	CRNKL1	20	20024254	Missense_Mutation	SNP	T	TCGA-QQ-A5VB-01A-11D-A36J-09		20024254	43001266	83	15949											
MYH7B	57644	genome.wustl.edu	37	chr20	33583296	33583296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcaagctggaggacgAgtgcacggagctcaagaagg	17	10	1	1			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr20:33583296A>G	ENST00000262873.7	+	26	3076	c.2984A>G	c.(2983-2985)gAg>gGg	p.E995G		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	953						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGAGGACGAGTGCACGGAG	0.617																																																	0								ENSG00000078814						64	57	59					20																	33583296		2203	4300	6503	MYH7B	SO:0001583	missense	0			-	HGNC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2984A>G	20.37:g.33583296A>G	ENSP00000262873:p.Glu995Gly	Somatic	0	48	0		0.599270127213081	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E995G	ENST00000262873.7	37	c.2984	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006340	0.93287	.	.	ENSG00000078814	ENST00000262873	D	0.87029	-2.2	5.35	5.35	0.76521	.	0.000000	0.36338	N	0.002653	D	0.95890	0.8662	H	0.97564	4.03	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.97420	1.0008	10	0.87932	D	0	.	15.545	0.76090	1.0:0.0:0.0:0.0	.	953	A7E2Y1	MYH7B_HUMAN	G	995	ENSP00000262873:E995G	ENSP00000262873:E995G	E	+	2	0	MYH7B	33046957	1.000000	0.71417	0.993000	0.49108	0.865000	0.49528	9.135000	0.94478	2.266000	0.75297	0.529000	0.55759	GAG	-	superfamily_tRNA-bd_arm		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	protein_coding	OTTHUMT00000078833.2	A	NM_020884	-		33583296	1	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	SNP	1.000	G	G	33583296	A	G	33583296	3	3	201	1	0	0	0	0	1	0	0	0	10042	304	11	5	3086	5	MYH7B	20	33583296	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	13559042	33583296	29442224	84	15950											
PTPN1	5770	genome.wustl.edu	37	chr20	49195040	49195040	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatcaccagcctcattcttGaactttcttttcaaagtccg	5	12	5	1	rs376902895		TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr20:49195040G>T	ENST00000371621.3	+	6	750	c.576G>T	c.(574-576)ttG>ttT	p.L192F	PTPN1_ENST00000541713.1_Missense_Mutation_p.L119F|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	192	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CCTCATTCTTGAACTTTCTTT	0.507																																																	0								ENSG00000196396						161	166	164					20																	49195040		2203	4300	6503	PTPN1	SO:0001583	missense	0			-	HGNC		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.576G>T	20.37:g.49195040G>T	ENSP00000360683:p.Leu192Phe	Somatic	0	56	0		0.599270127213081	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP							pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L192F	ENST00000371621.3	37	c.576	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383178	0.61845	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.86230	-2.09;-2.09	5.24	-1.62	0.08372	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000055	D	0.91885	0.7431	M	0.92219	3.285	0.58432	D	0.999999	D	0.71674	0.998	D	0.68765	0.96	D	0.87798	0.2623	10	0.87932	D	0	.	3.2933	0.06957	0.0962:0.3702:0.2506:0.283	.	192	P18031	PTN1_HUMAN	F	192;119	ENSP00000360683:L192F;ENSP00000437732:L119F	ENSP00000360683:L192F	L	+	3	2	PTPN1	48628447	0.435000	0.25577	0.976000	0.42696	0.932000	0.56968	-0.208000	0.09371	0.147000	0.19030	0.462000	0.41574	TTG	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.507	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	protein_coding	OTTHUMT00000079694.2	G		-		49195040	1	no_errors	ENST00000371621	ensembl	human	known	74_37	missense	SNP	0.738	T	T	49195040	G	T	49195040	3	4	201	1	0	0	0	0	1	0	0	0	12785	1281	45	3	598	3	PTPN1	20	49195040	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09	15611744	49195040	13830480	85	15951											
LAMA5	3911	genome.wustl.edu	37	chr20	60889624	60889624	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacctggcggctgcccAtgtacatcacaaagcgatcc	10	14	1	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr20:60889624A>T	ENST00000252999.3	-	61	8420	c.8354T>A	c.(8353-8355)aTg>aAg	p.M2785K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2785	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)			GCGGCTGCCCATGTACATCAC	0.637																																																	0								ENSG00000130702						50	54	53					20																	60889624		2203	4298	6501	LAMA5	SO:0001583	missense	0			-	HGNC	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.8354T>A	20.37:g.60889624A>T	ENSP00000252999:p.Met2785Lys	Somatic	0	41	0		0.599270127213081	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.M2785K	ENST00000252999.3	37	c.8354	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	a	20.4	3.986127	0.74589	.	.	ENSG00000130702	ENST00000252999	T	0.77877	-1.13	3.88	3.88	0.44766	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.064906	0.64402	U	0.000006	T	0.79764	0.4502	L	0.51422	1.61	0.80722	D	1	D	0.53619	0.961	P	0.54759	0.76	T	0.81337	-0.0978	10	0.87932	D	0	.	10.9185	0.47150	1.0:0.0:0.0:0.0	.	2785	O15230	LAMA5_HUMAN	K	2785	ENSP00000252999:M2785K	ENSP00000252999:M2785K	M	-	2	0	LAMA5	60323019	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.874000	0.69652	1.396000	0.46663	0.375000	0.23000	ATG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	A	NM_005560	-		60889624	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60889624	A	T	60889624	3	4	201	1	0	0	0	0	1	0	0	0	8611	217	8	5	2813	5	LAMA5	20	60889624	Missense_Mutation	SNP	A	TCGA-QQ-A5VB-01A-11D-A36J-09	11694584	60889624	2135896	86	15952											
PHF21B	112885	genome.wustl.edu	37	chr22	45312449	45312449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgttgggggctgcttgGgtggccggtcccggcccggg	21	10	0	0			TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chr22:45312449G>T	ENST00000313237.5	-	4	425	c.275C>A	c.(274-276)cCc>cAc	p.P92H	PHF21B_ENST00000396103.3_Missense_Mutation_p.P92H|PHF21B_ENST00000447824.3_Missense_Mutation_p.P80H|PHF21B_ENST00000404079.2_Missense_Mutation_p.P80H|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	92							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGCTGCTTGGGTGGCCGGTC	0.637																																																	0								ENSG00000056487						41	47	45					22																	45312449		2203	4300	6503	PHF21B	SO:0001583	missense	0			-	HGNC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.275C>A	22.37:g.45312449G>T	ENSP00000324403:p.Pro92His	Somatic	0	84	0		0.599270127213081	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	85	32.54	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P92H	ENST00000313237.5	37	c.275	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382996	0.82792	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.06	5.06	0.68205	.	0.332745	0.25219	N	0.032248	T	0.36663	0.0975	L	0.40543	1.245	0.36206	D	0.851037	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;P;P	0.68621	0.919;0.959;0.903;0.885	T	0.22382	-1.0218	10	0.21540	T	0.41	-6.2259	18.4696	0.90767	0.0:0.0:1.0:0.0	.	80;92;80;92	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	H	92;92;80;80;80	ENSP00000324403:P92H;ENSP00000379410:P92H;ENSP00000385105:P80H;ENSP00000388619:P80H;ENSP00000401294:P80H	ENSP00000324403:P92H	P	-	2	0	PHF21B	43691113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.575000	0.74018	2.346000	0.79739	0.655000	0.94253	CCC	-	NULL		0.637	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	protein_coding	OTTHUMT00000321731.2	G	NM_138415	-		45312449	-1	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45312449	G	T	45312449	3	4	201	1	0	0	0	0	1	0	0	0	11836	1232	43	3	1360	3	PHF21B	22	45312449	Missense_Mutation	SNP	G	TCGA-QQ-A5VB-01A-11D-A36J-09		45312449	5992117	87	15953											
RBM10	8241	genome.wustl.edu	37	chrX	47030467	47030469	+	In_Frame_Del	DEL	GGC	GGC	-													gggctccgagactcagcgtaGgcggcggcggcggcacaggc							TCGA-QQ-A5VB-01A-11D-A36J-09	TCGA-QQ-A5VB-11B-11D-A36M-09	GGC	GGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d400acc7-dfdd-43c8-87ba-7fa730843de4	48693237-2b03-410f-8ac9-7d5ca5a4edb1	g.chrX:47030467_47030469delGGC	ENST00000377604.3	+	4	984_986	c.242_244delGGC	c.(241-246)aggcgg>agg	p.81_82RR>R	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	81	Poly-Arg.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R85delR(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTCAGCGTAGGCGGCGGCGGCG	0.68																																					Melanoma(171;120 2705 19495 39241)												1	Deletion - In frame(1)	large_intestine(1)						ENSG00000182872		,,,,	44,3546		4,27,9,1518,483					,,,,	3.8	1			15	76,6190		7,32,30,2270,1618	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	11,59,39,3788,2101	A1A1,A1R,A1,RR,R		1.2129,1.2256,1.2175	,,,,	,,,,		120,9736				RBM10	SO:0001651	inframe_deletion	0				HGNC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.242_244delGGC	X.37:g.47030476_47030478delGGC	ENSP00000366829:p.Arg85del	Somatic	0	24	0		0.599270127213081	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL							pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R85in_frame_del	ENST00000377604.3	37	c.242_244	CCDS14274.1	X																																																																																			-	NULL		0.68	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	protein_coding	OTTHUMT00000056381.1	GGC	NM_005676			47030469	1	no_errors	ENST00000377604	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	47030469	GGC	-	47030467	7	5	201	1	0	1	0	1	0	0	0	0	13119	1000	35	0	252	0	RBM10	23	47030467	In_Frame_Del	DEL	GGC	TCGA-QQ-A5VB-01A-11D-A36J-09		47030467	108240093	88	15954											
TAS1R1	80835	genome.wustl.edu	37	chr1	6637055	6637055	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcttgaagggcaccagCgagtggttacgggtttccat	13	9	1	1	rs61740593	byFrequency	TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr1:6637055C>T	ENST00000333172.6	+	5	1712	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.R253*|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	507			R -> Q (in dbSNP:rs35118458).		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)		AGGGCACCAGCGAGTGGTTAC	0.577																																																	0								ENSG00000173662						160	149	153					1																	6637055		2203	4300	6503	TAS1R1	SO:0001587	stop_gained	0			-	HGNC		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.1519C>T	1.37:g.6637055C>T	ENSP00000331867:p.Arg507*	Somatic	0	56	0		0.664348379555697	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	3	93.18	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Nonsense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.R507*	ENST00000333172.6	37	c.1519	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006058	0.93287	.	.	ENSG00000173662	ENST00000333172;ENST00000437392;ENST00000351136	.	.	.	4.86	1.73	0.24493	.	0.259107	0.36932	N	0.002335	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.6943	0.56994	0.6079:0.3921:0.0:0.0	.	.	.	.	X	507;175;253	.	ENSP00000331867:R507X	R	+	1	2	TAS1R1	6559642	0.122000	0.22280	0.001000	0.08648	0.892000	0.51952	1.245000	0.32790	0.043000	0.15746	0.491000	0.48974	CGA	-	pfam_GPCR_3_9-Cys_dom		0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	protein_coding	OTTHUMT00000004211.1	C		-		6637055	1	no_errors	ENST00000333172	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	6637055	C	T	6637055	4	4	202	1	0	0	0	0	0	1	0	0	15569	760	27	1	1537	1	TAS1R1	1	6637055	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		6637055	242613566	1	15955											
VPS13D	55187	genome.wustl.edu	37	chr1	12382722	12382722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctggagtcagactccGttggcacttaccttccaggt	11	13	1	1	rs139303925		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr1:12382722G>A	ENST00000358136.3	+	34	7964	c.7834G>A	c.(7834-7836)Gtt>Att	p.V2612I	VPS13D_ENST00000356315.4_Missense_Mutation_p.V2612I	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)		GTCAGACTCCGTTGGCACTTA	0.483																																																	0								ENSG00000048707	G	ILE/VAL,ILE/VAL	1,4405	4.2+/-10.8	0,1,2202	120	114	116		7834,7834	-2	0	1	dbSNP_134	116	0,8600		0,0,4300	no	missense,missense	VPS13D	NM_015378.2,NM_018156.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	2612/4389,2612/4364	12382722	1,13005	2203	4300	6503	VPS13D	SO:0001583	missense	0			-	HGNC	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.7834G>A	1.37:g.12382722G>A	ENSP00000350854:p.Val2612Ile	Somatic	0	41	0		0.664348379555697	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	23	51.06		Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V2612I	ENST00000358136.3	37	c.7834	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718325	0.30503	2.27E-4	0.0	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52295	0.67;0.67	5.86	-2.03	0.07365	UBA-like (1);	1.403040	0.04658	N	0.408425	T	0.23886	0.0578	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.08452	-1.0721	10	0.35671	T	0.21	.	2.3866	0.04367	0.2188:0.082:0.4165:0.2826	.	519;2612;2612	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	I	2612	ENSP00000348666:V2612I;ENSP00000350854:V2612I	ENSP00000348666:V2612I	V	+	1	0	VPS13D	12305309	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.412000	0.07132	-0.685000	0.05177	-0.126000	0.14955	GTT	-	superfamily_UBA-like		0.483	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	G	NM_015378	rs139303925		12382722	1	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12382722	G	A	12382722	3	1	202	1	0	0	0	0	1	0	0	0	17199	1145	40	1	7964	1	VPS13D	1	12382722	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	5745667	12382722	236867899	2	15956											
AKR7L	246181	genome.wustl.edu	37	chr1	19593931	19593931	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggctggacatgcccaGgatgaccgcgtccccgtggg	14	15	0	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr1:19593931G>A	ENST00000429712.1	-	0	978				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GACATGCCCAGGATGACCGCG	0.647																																																	0								ENSG00000211454						38	41	40					1																	19593931		2202	4277	6479	AKR7L			0			-	HGNC			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19593931G>A		Somatic	0	50	0		0.664348379555697	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	34	44.26	Q5U614	Silent	SNP							pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.L109	ENST00000429712.1	37	c.325		1																																																																																			-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.647	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	polymorphic_pseudogene	OTTHUMT00000007163.3	G	NM_201252	-		19593931	-1	no_errors	ENST00000420396	ensembl	human	known	74_37	silent	SNP	1.000	A	A	19593931	G	A	19593931	1	1	202	0	1	0	0	0	0	0	0	0	477	1000	35	2		2	AKR7L	1	19593931	RNA	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	7211209	19593931	229656690	3	15957											
HOOK1	51361	genome.wustl.edu	37	chr1	60338568	60338568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcggtctttcttagcGcagcaacggcacatcaccaa	9	15	3	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr1:60338568G>A	ENST00000371208.3	+	22	2375	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.A664A	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	706	Sufficient for interaction with AKTIP and VPS18.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTTTCTTAGCGCAGCAACGGC	0.468																																																	0								ENSG00000134709						33	29	31					1																	60338568		2049	3922	5971	HOOK1	SO:0001819	synonymous_variant	0			-	HGNC	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.2118G>A	1.37:g.60338568G>A		Somatic	0	45	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	6	86.36	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP							pfam_Hook-related_fam,superfamily_Prefoldin	p.A706	ENST00000371208.3	37	c.2118	CCDS612.1	1																																																																																			-	pfam_Hook-related_fam		0.468	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	protein_coding	OTTHUMT00000024934.1	G	NM_015888	-		60338568	1	no_errors	ENST00000371208	ensembl	human	known	74_37	silent	SNP	0.835	A	A	60338568	G	A	60338568	2	1	202	1	0	0	0	0	0	0	0	1	7284	1074	38	1		1	HOOK1	1	60338568	Silent	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	40744637	60338568	188912053	4	15958											
RPTN	126638	genome.wustl.edu	37	chr1	152128045	152128045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtctgtctgaccataGtgggaactttggccttgtcc	11	10	3	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr1:152128045G>A	ENST00000316073.3	-	3	1594	c.1530C>T	c.(1528-1530)caC>caT	p.H510H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	510	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGACCATAGTGGGAACTTT	0.502																																																	0								ENSG00000215853						824	716	749					1																	152128045		1568	3582	5150	RPTN	SO:0001819	synonymous_variant	0			-	HGNC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1530C>T	1.37:g.152128045G>A		Somatic	0	141	0		0.664348379555697	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	325	22.06	B7ZBZ3	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H510	ENST00000316073.3	37	c.1530	CCDS41397.1	1																																																																																			-	NULL		0.502	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	protein_coding	OTTHUMT00000333867.1	G	XM_371312	-		152128045	-1	no_errors	ENST00000316073	ensembl	human	known	74_37	silent	SNP	0.000	A	A	152128045	G	A	152128045	2	1	202	1	0	0	0	0	0	0	0	1	13672	1020	36	2		2	RPTN	1	152128045	Silent	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	91789477	152128045	97122576	5	15959											
KPRP	448834	genome.wustl.edu	37	chr1	152733278	152733278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccacctcctgctccacGtccacgtctgcgcccagaac	7	19	1	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr1:152733278G>A	ENST00000606109.1	+	1	1242	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	KPRP_ENST00000368773.1_Missense_Mutation_p.R405H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	405	Pro-rich.					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)			CCTGCTCCACGTCCACGTCTG	0.567																																																	0								ENSG00000203786						158	157	157					1																	152733278		2203	4300	6503	KPRP	SO:0001583	missense	0			-	HGNC	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.1214G>A	1.37:g.152733278G>A	ENSP00000475216:p.Arg405His	Somatic	0	13	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	4	87.10		Missense_Mutation	SNP							NULL	p.R405H	ENST00000606109.1	37	c.1214	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309013	0.60414	.	.	ENSG00000203786	ENST00000368773	T	0.23348	1.91	4.88	3.96	0.45880	.	0.416647	0.20883	N	0.083964	T	0.15435	0.0372	L	0.54323	1.7	0.09310	N	1	D	0.56521	0.976	P	0.48795	0.59	T	0.06770	-1.0808	10	0.66056	D	0.02	-4.6039	6.4326	0.21805	0.0906:0.0:0.7264:0.183	.	405	Q5T749	KPRP_HUMAN	H	405	ENSP00000357762:R405H	ENSP00000357762:R405H	R	+	2	0	KPRP	150999902	0.010000	0.17322	0.010000	0.14722	0.869000	0.49853	1.824000	0.39072	1.439000	0.47511	-0.361000	0.07541	CGT	-	NULL		0.567	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	G	NM_001025231	-		152733278	1	no_errors	ENST00000368773	ensembl	human	known	74_37	missense	SNP	0.049	A	A	152733278	G	A	152733278	3	1	202	1	0	0	0	0	1	0	0	0	8438	1145	40	1	1216	1	KPRP	1	152733278	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	605233	152733278	96517343	6	15960											
LHCGR	3973	genome.wustl.edu	37	chr2	48982755	48982756	+	In_Frame_Ins	INS	-	-	GCTGCA													cagcgctcgtggcagcggcgINSgctgcagcagcagcagcagc					rs188002889|rs376653903|rs58356637|rs142537840	byFrequency	TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr2:48982755_48982756insGCTGCA	ENST00000294954.7	-	1	76_77	c.55_56insTGCAGC	c.(55-57)ccg>cTGCAGCcg	p.18_19insLQ	LHCGR_ENST00000344775.3_In_Frame_Ins_p.18_19insLQ|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_In_Frame_Ins_p.18_19insLQ|LHCGR_ENST00000403273.1_In_Frame_Ins_p.18_19insLQ|LHCGR_ENST00000405626.1_In_Frame_Ins_p.18_19insLQ	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	18			Q -> QLQ (may be associated with earlier age of onset of breast cancer and poor prognosis). {ECO:0000269|PubMed:9851790, ECO:0000269|PubMed:9858858}.	P -> A (in Ref. 3; AAA70231). {ECO:0000305}.	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)	TGgcagcggcggctgcagcagc	0.723														724	0.144569	0.1959	0.1455	5008	,	,		10728	0.0139		0.2624	False		,,,				2504	0.0879																0			GRCh37	CI035605	LHCGR	I	rs188002889	ENSG00000138039		,	191,1163		76,39,562					,	-7.2	0		dbSNP_130	2	644,2246		207,230,1008	no	intron,coding	LHCGR,STON1-GTF2A1L	NM_001198593.1,NM_000233.3	,	283,269,1570	A1A1,A1R,RR		22.2837,14.1064,19.6748	,	,		835,3409				LHCGR	SO:0001652	inframe_insertion	0				HGNC		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.50_55dupTGCAGC	2.37:g.48982756_48982761dupGCTGCA	ENSP00000294954:p.Leu17_Gln18dup	Somatic					0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q14751|Q15996|Q9UEW9	In_Frame_Ins	INS							pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.19in_frame_insLQ	ENST00000294954.7	37	c.56_55	CCDS1842.1	2																																																																																			-	prints_TSH_rcpt		0.723	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	-	NM_000233.3			48982756	-1	no_errors	ENST00000294954	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.001	GCTGCA	GCTGCA	48982756	-	GCTGCA	48982755	7	5	202	1	0	1	1	0	0	0	0	0	8764	1116	39	0	2087	0	LHCGR	2	48982755	In_Frame_Ins	INS	-	TCGA-QQ-A5VC-01A-31D-A32I-09		48982755	194216618	7	15961											
HNRNPA3	220988	genome.wustl.edu	37	chr2	178081298	178081298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctttctaaacaagagatGcagtctgctggatcacagag	10	10	3	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr2:178081298G>T	ENST00000392524.2	+	5	858	c.621G>T	c.(619-621)atG>atT	p.M207I	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.M185I|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.M207I			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	207					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						AACAAGAGATGCAGTCTGCTG	0.363																																																	0								ENSG00000170144						132	132	132					2																	178081298		2203	4300	6503	HNRNPA3	SO:0001583	missense	0			-	HGNC	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.621G>T	2.37:g.178081298G>T	ENSP00000376309:p.Met207Ile	Somatic	0	48	0		0.664348379555697	310	16.67	62	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M207I	ENST00000392524.2	37	c.621	CCDS2273.1	2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301156	0.60195	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	3.68	3.68	0.42216	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.56097	D	0.000024	D	0.87970	0.6312	M	0.70842	2.15	0.80722	D	1	B;B	0.19445	0.036;0.029	B;B	0.12156	0.007;0.005	D	0.87072	0.2160	10	0.52906	T	0.07	.	15.9668	0.79979	0.0:0.0:1.0:0.0	.	185;207	B4DDB6;P51991	.;ROA3_HUMAN	I	207;185;185;185;207;15	ENSP00000376309:M207I;ENSP00000408487:M185I;ENSP00000416340:M207I;ENSP00000400688:M15I	ENSP00000376309:M207I	M	+	3	0	HNRNPA3	177789544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.504000	0.97986	2.085000	0.62840	0.551000	0.68910	ATG	-	NULL		0.363	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPA3	protein_coding	OTTHUMT00000255729.3	G	NM_194247	-		178081298	1	no_errors	ENST00000392524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	178081298	G	T	178081298	3	4	202	1	0	0	0	0	1	0	0	0	7262	1319	46	3	639	3	HNRNPA3	2	178081298	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	129098543	178081298	65118075	8	15962											
TTN	7273	genome.wustl.edu	37	chr2	179623770	179623770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcattactagcaacaaacGtgtaagttccttcatcttct	5	11	3	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr2:179623770G>T	ENST00000591111.1	-	44	10468	c.10244C>A	c.(10243-10245)aCg>aAg	p.T3415K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T3415K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T3415K|TTN_ENST00000360870.5_Missense_Mutation_p.T3415K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3369K|TTN_ENST00000460472.2_Missense_Mutation_p.T3369K|TTN_ENST00000342175.6_Missense_Mutation_p.T3369K			Q8WZ42	TITIN_HUMAN	titin	13731	Ig-like 20.				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)			AGCAACAAACGTGTAAGTTCC	0.383																																																	0								ENSG00000155657						144	131	135					2																	179623770		2203	4300	6503	TTN	SO:0001583	missense	0			-	HGNC	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.10244C>A	2.37:g.179623770G>T	ENSP00000465570:p.Thr3415Lys	Somatic	0	37	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	8	74.19	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T3415K	ENST00000591111.1	37	c.10244		2	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058009	0.55325	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61198	0.2328	L	0.33093	0.98	0.30576	N	0.762973	B;B;B;B;P	0.37612	0.004;0.004;0.034;0.01;0.602	B;B;B;B;B	0.35240	0.013;0.013;0.029;0.029;0.198	T	0.66340	-0.5948	9	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	3369;3369;3369;3415;3415	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	3415;3369;3369;3369;3369;3415;20	ENSP00000343764:T3415K;ENSP00000434586:T3369K;ENSP00000340554:T3369K;ENSP00000352154:T3369K;ENSP00000354117:T3415K	ENSP00000340554:T3369K	T	-	2	0	TTN	179332015	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	7.822000	0.86651	2.804000	0.96469	0.655000	0.94253	ACG	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179623770	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179623770	G	T	179623770	3	4	202	1	0	0	0	0	1	0	0	0	16742	1145	40	3	101020	3	TTN	2	179623770	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	1542472	179623770	63575603	9	15963											
PASK	23178	genome.wustl.edu	37	chr2	242047682	242047682	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgtacagagtgactccCagagaccacatctccagctc	9	14	1	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr2:242047682C>A	ENST00000405260.1	-	16	4265	c.3567G>T	c.(3565-3567)ctG>ctT	p.L1189L	PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Silent_p.L973L|PASK_ENST00000544142.1_Silent_p.L1003L|PASK_ENST00000234040.4_Silent_p.L1189L|PASK_ENST00000358649.4_Silent_p.L1196L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGTGACTCCCAGAGACCACA	0.622																																																	0								ENSG00000115687						109	94	99					2																	242047682		2203	4300	6503	PASK	SO:0001819	synonymous_variant	0			-	HGNC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3567G>T	2.37:g.242047682C>A		Somatic	0	29	0		0.664348379555697	9	35.71	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS	p.L1196	ENST00000405260.1	37	c.3588	CCDS2545.1	2																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.622	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	protein_coding	OTTHUMT00000323753.1	C	NM_015148	-		242047682	-1	no_errors	ENST00000358649	ensembl	human	known	74_37	silent	SNP	1.000	A	A	242047682	C	A	242047682	2	1	202	1	0	0	0	0	0	0	0	1	11474	581	21	3		3	PASK	2	242047682	Silent	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	62423912	242047682	1151691	10	15964											
TOP2B	7155	genome.wustl.edu	37	chr3	25685245	25685245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacctccctgcaattcaTtcctacatcttcatcataca	3	14	4	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:25685245T>C	ENST00000264331.4	-	3	270	c.271A>G	c.(271-273)Atg>Gtg	p.M91V	TOP2B_ENST00000435706.2_Missense_Mutation_p.M86V	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	91					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTGCAATTCATTCCTACATCT	0.303																																																	0								ENSG00000077097						197	189	192					3																	25685245		1832	4085	5917	TOP2B	SO:0001583	missense	0			-	HGNC	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.271A>G	3.37:g.25685245T>C	ENSP00000264331:p.Met91Val	Somatic	0	73	0		0.664348379555697	11	38.89	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP							pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.M91V	ENST00000264331.4	37	c.271		3	.	.	.	.	.	.	.	.	.	.	T	16.22	3.063001	0.55432	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48836	0.8;0.8	5.08	5.08	0.68730	.	0.072072	0.85682	D	0.000000	T	0.52058	0.1711	M	0.76838	2.35	0.80722	D	1	B	0.33694	0.421	B	0.33960	0.173	T	0.59658	-0.7413	10	0.72032	D	0.01	-16.8437	15.125	0.72475	0.0:0.0:0.0:1.0	.	86	Q02880-2	.	V	86;91;86	ENSP00000396704:M86V;ENSP00000264331:M91V	ENSP00000264331:M91V	M	-	1	0	TOP2B	25660249	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.229000	0.58625	2.038000	0.60285	0.533000	0.62120	ATG	-	superfamily_HATPase_ATP-bd		0.303	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	protein_coding		T		-		25685245	-1	no_errors	ENST00000264331	ensembl	human	known	74_37	missense	SNP	1.000	C	C	25685245	T	C	25685245	3	2	202	1	0	0	0	0	1	0	0	0	16373	1493	52	5	4745	5	TOP2B	3	25685245	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		25685245	172337185	11	15965											
SETD2	29072	genome.wustl.edu	37	chr3	47163488	47163488	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagactctgaagagatgaagCaatacctgaactcccaatag	8	9	1	5			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:47163488C>A	ENST00000409792.3	-	3	2680	c.2638G>T	c.(2638-2640)Gct>Tct	p.A880S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	880					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)		AGAGATGAAGCAATACCTGAA	0.403			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								ENSG00000181555						80	82	81					3																	47163488		2203	4300	6503	SETD2	SO:0001583	missense	0			-	HGNC	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.2638G>T	3.37:g.47163488C>A	ENSP00000386759:p.Ala880Ser	Somatic	0	25	0		0.664348379555697	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP							pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.A880S	ENST00000409792.3	37	c.2638	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121014	0.20877	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89270	-2.49;1.38	4.99	4.09	0.47781	.	0.248699	0.28130	N	0.016497	T	0.79690	0.4489	N	0.14661	0.345	0.20703	N	0.999864	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.68849	-0.5300	10	0.42905	T	0.14	.	12.7858	0.57504	0.1694:0.8306:0.0:0.0	.	880;880	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	880;880;880;836	ENSP00000386759:A880S;ENSP00000416401:A836S	ENSP00000386759:A880S	A	-	1	0	SETD2	47138492	1.000000	0.71417	0.912000	0.35992	0.670000	0.39368	3.232000	0.51302	1.254000	0.44035	0.655000	0.94253	GCT	-	NULL		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	protein_coding	OTTHUMT00000257479.2	C	NM_014159	-		47163488	-1	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	SNP	0.944	A	A	47163488	C	A	47163488	3	1	202	1	0	0	0	0	1	0	0	0	14139	710	25	3	5132	3	SETD2	3	47163488	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	21478243	47163488	150858942	12	15966											
QRICH1	54870	genome.wustl.edu	37	chr3	49114374	49114374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccagaaattccttcatcCtgtgttgcgggacagaccgt	10	11	1	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:49114374C>A	ENST00000395443.2	-	2	549	c.77G>T	c.(76-78)aGg>aTg	p.R26M	QRICH1_ENST00000424300.1_Missense_Mutation_p.R26M|QRICH1_ENST00000357496.2_Missense_Mutation_p.R26M	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	26	CARD.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTCCTTCATCCTGTGTTGCGG	0.512																																																	0								ENSG00000198218						128	124	125					3																	49114374		2203	4300	6503	QRICH1	SO:0001583	missense	0			-	HGNC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.77G>T	3.37:g.49114374C>A	ENSP00000378830:p.Arg26Met	Somatic	0	43	0		0.664348379555697	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP							pfam_DUF3504,superfamily_DEATH-like_dom	p.R26M	ENST00000395443.2	37	c.77	CCDS2787.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502553	0.85176	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682;ENST00000430979	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	N	0.24115	0.695	0.58432	D	0.999997	D	0.56968	0.978	P	0.51415	0.669	T	0.58831	-0.7567	10	0.87932	D	0	.	19.2513	0.93926	0.0:1.0:0.0:0.0	.	26	Q2TAL8	QRIC1_HUMAN	M	26	ENSP00000378830:R26M;ENSP00000350094:R26M;ENSP00000412890:R26M;ENSP00000416133:R26M;ENSP00000413051:R26M;ENSP00000412870:R26M;ENSP00000405505:R26M	ENSP00000350094:R26M	R	-	2	0	QRICH1	49089378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.797000	0.55514	2.556000	0.86216	0.655000	0.94253	AGG	-	superfamily_DEATH-like_dom		0.512	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	protein_coding	OTTHUMT00000345669.1	C	NM_017730	-		49114374	-1	no_errors	ENST00000357496	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49114374	C	A	49114374	3	1	202	1	0	0	0	0	1	0	0	0	12887	681	24	3	2289	3	QRICH1	3	49114374	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	1950886	49114374	148908056	13	15967											
APEH	327	genome.wustl.edu	37	chr3	49717990	49717990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagggtcaggtgggagCtggaagttgctcacaattga	16	7	2	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:49717990C>A	ENST00000296456.5	+	14	1627	c.1227C>A	c.(1225-1227)agC>agA	p.S409R	APEH_ENST00000438011.1_Missense_Mutation_p.S409R	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	409					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGTGGGAGCTGGAAGTTGC	0.557																																																	0								ENSG00000164062						126	102	110					3																	49717990		2203	4300	6503	APEH	SO:0001583	missense	0			-	HGNC	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1227C>A	3.37:g.49717990C>A	ENSP00000296456:p.Ser409Arg	Somatic	0	47	0		0.664348379555697	71	44.96	58	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP							pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro	p.S409R	ENST00000296456.5	37	c.1227	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991661	0.74703	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.45668	0.89;0.89	5.2	4.33	0.51752	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.036116	0.85682	D	0.000000	T	0.58977	0.2160	M	0.75615	2.305	0.58432	D	0.999994	D;D	0.62365	0.991;0.985	D;P	0.66196	0.942;0.843	T	0.58875	-0.7559	10	0.39692	T	0.17	-15.4203	9.9568	0.41671	0.0:0.8422:0.0:0.1578	.	409;409	C9JIF9;P13798	.;ACPH_HUMAN	R	409	ENSP00000296456:S409R;ENSP00000415862:S409R	ENSP00000296456:S409R	S	+	3	2	APEH	49692994	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.639000	0.46570	1.325000	0.45301	0.561000	0.74099	AGC	-	NULL		0.557	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	protein_coding	OTTHUMT00000346415.2	C		-		49717990	1	no_errors	ENST00000296456	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49717990	C	A	49717990	3	1	202	1	0	0	0	0	1	0	0	0	768	796	28	3	1281	3	APEH	3	49717990	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	603616	49717990	148304440	14	15968											
MAGI1	9223	genome.wustl.edu	37	chr3	65342712	65342712	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatcgggtgggtaactggActccaatgacggatgctgcc	14	9	0	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:65342712A>T	ENST00000402939.2	-	23	3729	c.3730T>A	c.(3730-3732)Tcc>Acc	p.S1244T	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1273					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)			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)		GGGTAACTGGACTCCAATGAC	0.627																																																	0								ENSG00000151276						104	103	103					3																	65342712		2203	4300	6503	MAGI1	SO:0001583	missense	0			-	HGNC	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	ENST00000402939.2:c.3730T>A	3.37:g.65342712A>T	ENSP00000385450:p.Ser1244Thr	Somatic	0	32	0		0.664348379555697	1	83.33	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	0	93.75	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP							pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.S1244T	ENST00000402939.2	37	c.3730	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979407	0.34942	.	.	ENSG00000151276	ENST00000402939	T	0.13657	2.57	4.6	4.6	0.57074	.	0.064498	0.64402	D	0.000006	T	0.08670	0.0215	L	0.29908	0.895	0.80722	D	1	P	0.36249	0.545	B	0.32677	0.15	T	0.30592	-0.9973	10	0.16896	T	0.51	-4.9093	9.4315	0.38612	0.9152:0.0:0.0848:0.0	.	1244	Q96QZ7-2	.	T	1244	ENSP00000385450:S1244T	ENSP00000385450:S1244T	S	-	1	0	MAGI1	65317752	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.886000	0.56190	1.704000	0.51252	0.402000	0.26972	TCC	-	NULL		0.627	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	protein_coding	OTTHUMT00000349126.1	A	NM_004742	-		65342712	-1	no_errors	ENST00000402939	ensembl	human	known	74_37	missense	SNP	1.000	T	T	65342712	A	T	65342712	3	4	202	1	0	0	0	0	1	0	0	0	9192	275	10	5	662	5	MAGI1	3	65342712	Missense_Mutation	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	15624722	65342712	132679718	15	15969											
C3orf64	285203	genome.wustl.edu	37	chr3	69026829	69026829	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaatacgtggtctgcAgcctgaaggacaagatacat	11	8	1	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:69026829A>G	ENST00000383701.3	-	18	2266	c.1524T>C	c.(1522-1524)gcT>gcC	p.A508A	EOGT_ENST00000540764.1_Silent_p.A407A|EOGT_ENST00000540955.1_Silent_p.A232A|EOGT_ENST00000295571.5_Silent_p.A424A	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	508					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										CGTGGTCTGCAGCCTGAAGGA	0.428																																																	0								ENSG00000163378						111	109	110					3																	69026829		2203	4300	6503	EOGT	SO:0001819	synonymous_variant	0			-	HGNC	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1524T>C	3.37:g.69026829A>G		Somatic	0	57	0		0.664348379555697	0	100	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	8	90.48	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP							pfam_Glycosyltransferase_AER61	p.A508	ENST00000383701.3	37	c.1524		3																																																																																			-	NULL		0.428	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	protein_coding	OTTHUMT00000343722.1	A	NM_173654	-		69026829	-1	no_errors	ENST00000383701	ensembl	human	known	74_37	silent	SNP	0.997	G	G	69026829	A	G	69026829	2	3	202	1	0	0	0	0	0	0	0	1	2242	175	7	5		5	C3orf64	3	69026829	Silent	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	3684117	69026829	128995601	16	15970											
ROBO2	6092	genome.wustl.edu	37	chr3	77651591	77651591	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctcaattcagcaaaaaacaGatctgatgggatttggttat	9	6	3	2	rs144253225		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:77651591G>T	ENST00000461745.1	+	20	3985	c.3085G>T	c.(3085-3087)Gat>Tat	p.D1029Y	ROBO2_ENST00000487694.3_Missense_Mutation_p.D1045Y|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1029Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1029					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.D1029N(1)|p.D1045N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAAAAAACAGATCTGATGGG	0.423																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000185008						114	107	109					3																	77651591		1916	4137	6053	ROBO2	SO:0001583	missense	0			-	HGNC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3085G>T	3.37:g.77651591G>T	ENSP00000417164:p.Asp1029Tyr	Somatic	0	40	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D1029Y	ENST00000461745.1	37	c.3085	CCDS43109.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.55|17.55|17.55	3.418281|3.418281|3.418281	0.62622|0.62622|0.62622	.|.|.	.|.|.	ENSG00000185008|ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000490991|ENST00000471893	T;T;T|.|.	0.62364|.|.	0.03;0.07;0.06|.|.	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	0.000000|.|.	0.47455|.|.	D|.|.	0.000232|.|.	T|T|T	0.64204|0.64204|0.64204	0.2577|0.2577|0.2577	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.34319|.|.	D|.|.	0.686377|.|.	D;D;D|.|.	0.57571|.|.	0.98;0.98;0.98|.|.	P;P;P|.|.	0.56700|.|.	0.641;0.804;0.641|.|.	T|T|T	0.57289|0.57289|0.57289	-0.7837|-0.7837|-0.7837	9|4|4	0.56958|.|.	D|.|.	0.05|.|.	.|.|.	20.1432|20.1432|20.1432	0.98067|0.98067|0.98067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1045;1029;1029|.|.	Q19AB5;F8W703;Q9HCK4|.|.	.;.;ROBO2_HUMAN|.|.	Y|H|I	1045;1045;1049;1029;1029|185|103	ENSP00000417335:D1045Y;ENSP00000417164:D1029Y;ENSP00000327536:D1029Y|.|.	ENSP00000327536:D1029Y|.|.	D|Q|R	+|+|+	1|3|2	0|2|0	ROBO2|ROBO2|ROBO2	77734281|77734281|77734281	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.476000|9.476000|9.476000	0.97823|0.97823|0.97823	2.769000|2.769000|2.769000	0.95229|0.95229|0.95229	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAT|CAG|AGA	-	NULL		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000352600.2	G	XM_031246	-		77651591	1	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77651591	G	T	77651591	3	4	202	1	0	0	0	0	1	0	0	0	13522	942	33	3	3165	3	ROBO2	3	77651591	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	8624762	77651591	120370839	17	15971											
SEC62	7095	genome.wustl.edu	37	chr3	169703617	169703617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtatggatctatgacccaGttcactttaaaacatttgtc	6	8	2	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:169703617G>T	ENST00000337002.4	+	6	632	c.574G>T	c.(574-576)Gtt>Ttt	p.V192F	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.V192F|SEC62_ENST00000470355.1_3'UTR	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	192					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTATGACCCAGTTCACTTTAA	0.299																																																	0								ENSG00000008952						137	139	138					3																	169703617		2203	4299	6502	SEC62	SO:0001583	missense	0			-	HGNC	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.574G>T	3.37:g.169703617G>T	ENSP00000337688:p.Val192Phe	Somatic	0	42	0		0.664348379555697	84	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DNQ0|O00682|O00729	Missense_Mutation	SNP							pfam_Sec62,superfamily_ABC1_TM_dom	p.V192F	ENST00000337002.4	37	c.574	CCDS3210.1	3	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996712	0.93167	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.71490	-0.4577	9	0.10111	T	0.7	-14.2878	18.3811	0.90451	0.0:0.0:1.0:0.0	.	192	Q99442	SEC62_HUMAN	F	192	.	ENSP00000337688:V192F	V	+	1	0	SEC62	171186311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.614000	0.90917	2.648000	0.89879	0.650000	0.86243	GTT	-	pfam_Sec62,superfamily_ABC1_TM_dom		0.299	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC62	protein_coding	OTTHUMT00000352043.1	G		-		169703617	1	no_errors	ENST00000337002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	169703617	G	T	169703617	3	4	202	1	0	0	0	0	1	0	0	0	14012	1029	36	3	596	3	SEC62	3	169703617	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	92052026	169703617	28318813	18	15972											
DGKG	1608	genome.wustl.edu	37	chr3	185979537	185979537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcaccaagaccagcagggGgtgggtacccggggtgggga	19	9	1	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr3:185979537G>T	ENST00000265022.3	-	15	1839	c.1300C>A	c.(1300-1302)Ccc>Acc	p.P434T	DGKG_ENST00000344484.4_Missense_Mutation_p.P434T|DGKG_ENST00000544847.1_Missense_Mutation_p.P375T|DGKG_ENST00000382164.4_Missense_Mutation_p.P395T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	434	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGCAGGGGGTGGGTACCC	0.502																																																	0								ENSG00000058866						24	22	22					3																	185979537		2203	4300	6503	DGKG	SO:0001583	missense	0			-	HGNC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1300C>A	3.37:g.185979537G>T	ENSP00000265022:p.Pro434Thr	Somatic	0	81	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	45	51.09	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P434T	ENST00000265022.3	37	c.1300	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.089601	0.94149	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.44881	0.92;0.91;0.92;0.92	5.52	5.52	0.82312	Diacylglycerol kinase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	H	0.97291	3.975	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	0.86117	0.1566	10	0.87932	D	0	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	375;434;395;434	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	434;434;395;375;398	ENSP00000265022:P434T;ENSP00000339777:P434T;ENSP00000371599:P395T;ENSP00000440507:P375T	ENSP00000265022:P434T	P	-	1	0	DGKG	187462231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.706000	0.98722	2.590000	0.87494	0.563000	0.77884	CCC	-	smart_Diacylglycerol_kinase_cat_dom		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	protein_coding	OTTHUMT00000344800.3	G		-		185979537	-1	no_errors	ENST00000265022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	185979537	G	T	185979537	3	4	202	1	0	0	0	0	1	0	0	0	4471	1232	43	3	1119	3	DGKG	3	185979537	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	16275920	185979537	12042893	19	15973											
ATP8A1	10396	genome.wustl.edu	37	chr4	42554560	42554560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaataatcttgtcaccttctCgctctggcactgctgtgtga	8	11	4	1	rs373156864		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr4:42554560C>T	ENST00000381668.5	-	17	1712	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R479Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	494					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCACCTTCTCGCTCTGGCAC	0.363																																																	0								ENSG00000124406						135	126	129					4																	42554560		2203	4300	6503	ATP8A1	SO:0001583	missense	0			-	HGNC	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1481G>A	4.37:g.42554560C>T	ENSP00000371084:p.Arg494Gln	Somatic	0	30	0		0.664348379555697	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R494Q	ENST00000381668.5	37	c.1481	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363898	0.82353	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.66815	-0.23;-0.23	5.75	5.75	0.90469	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.065654	0.64402	D	0.000008	T	0.76212	0.3956	L	0.41356	1.27	0.80722	D	1	D;B;P	0.69078	0.997;0.346;0.502	D;B;B	0.70227	0.968;0.15;0.223	T	0.72354	-0.4319	10	0.33940	T	0.23	.	19.94	0.97155	0.0:1.0:0.0:0.0	.	479;479;494	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Q	494;479	ENSP00000371084:R494Q;ENSP00000264449:R479Q	ENSP00000264449:R479Q	R	-	2	0	ATP8A1	42249317	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.325000	0.52030	2.721000	0.93114	0.650000	0.86243	CGA	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	protein_coding	OTTHUMT00000216861.2	C	NM_006095	-		42554560	-1	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42554560	C	T	42554560	3	4	202	1	0	0	0	0	1	0	0	0	1192	884	31	1	2097	1	ATP8A1	4	42554560	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		42554560	148599716	20	15974											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-													ataaccccggcttcgaggccGaggaggaggaggaggaggtg							TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0								ENSG00000118762			18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				PKD2	SO:0001651	inframe_deletion	0				HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del	Somatic	0	26	0		0.664348379555697	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL							pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			-	NULL		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	GAG	NM_000297			88929176	1	no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	202	1	0	1	0	1	0	0	0	0	11968	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-QQ-A5VC-01A-31D-A32I-09	46374614	88929174	102225102	21	15975											
KIAA0922	23240	genome.wustl.edu	37	chr4	154544148	154544148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagcgtgcgtgccagcCggggcagctgggggagctgg	21	11	0	0	rs148556115	byFrequency	TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr4:154544148C>T	ENST00000409663.3	+	29	4007	c.3955C>T	c.(3955-3957)Cgg>Tgg	p.R1319W	KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1236W|KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1320W	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1319	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCGTGCCAGCCGGGGCAGCTG	0.622																																																	0								ENSG00000121210	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	60	64	63		3958,3955	3.9	1	4	dbSNP_134	63	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	101,101	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging	1320/1611,1319/1610	154544148	7,12999	2203	4300	6503	KIAA0922	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3955C>T	4.37:g.154544148C>T	ENSP00000386574:p.Arg1319Trp	Somatic	0	16	0		0.664348379555697	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP							pfam_DUF3651_TMEM131	p.R1320W	ENST00000409663.3	37	c.3958	CCDS3783.2	4	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.4	4.287903	0.80803	2.27E-4	6.98E-4	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.50001	1.06;0.76;1.05;0.79	5.69	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63220	-0.6686	10	0.87932	D	0	-11.0617	10.824	0.46620	0.1309:0.8012:0.0:0.0679	.	1236;1320;1319	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	W	1319;1236;1320;1097	ENSP00000386574:R1319W;ENSP00000409663:R1236W;ENSP00000386787:R1320W;ENSP00000240487:R1097W	ENSP00000240487:R1097W	R	+	1	2	KIAA0922	154763598	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.543000	0.45752	0.721000	0.32231	0.655000	0.94253	CGG	-	NULL		0.622	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	protein_coding	OTTHUMT00000330370.1	C	NM_015196	rs148556115		154544148	1	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154544148	C	T	154544148	3	4	202	1	0	0	0	0	1	0	0	0	8203	643	23	1	4072	1	KIAA0922	4	154544148	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	65614974	154544148	36610128	22	15976											
ZFP42	132625	genome.wustl.edu	37	chr4	188924482	188924482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcagaatttgctagaaAgaagccccccataaataaag	8	10	0	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr4:188924482A>G	ENST00000326866.4	+	4	929	c.521A>G	c.(520-522)aAg>aGg	p.K174R	ZFP42_ENST00000509524.1_Missense_Mutation_p.K174R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	174					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)		TTTGCTAGAAAGAAGCCCCCC	0.468																																																	0								ENSG00000179059						97	110	106					4																	188924482		2203	4300	6503	ZFP42	SO:0001583	missense	0			-	HGNC	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.521A>G	4.37:g.188924482A>G	ENSP00000317686:p.Lys174Arg	Somatic	0	14	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	D3DP65|Q8WXE2	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K174R	ENST00000326866.4	37	c.521	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	A	12.11	1.839057	0.32513	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.63255	-0.03;-0.03	4.27	0.326	0.15908	.	0.051145	0.85682	U	0.000000	T	0.43344	0.1243	L	0.46157	1.445	0.09310	N	0.999995	P	0.44877	0.845	B	0.37943	0.261	T	0.38001	-0.9681	10	0.16420	T	0.52	.	5.3096	0.15823	0.4679:0.3591:0.0:0.173	.	174	Q96MM3	ZFP42_HUMAN	R	174	ENSP00000317686:K174R;ENSP00000424662:K174R	ENSP00000317686:K174R	K	+	2	0	ZFP42	189161476	0.000000	0.05858	0.124000	0.21820	0.126000	0.20510	-0.423000	0.07034	0.070000	0.16634	0.533000	0.62120	AAG	-	NULL		0.468	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	protein_coding	OTTHUMT00000359794.1	A	NM_174900	-		188924482	1	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	SNP	0.599	G	G	188924482	A	G	188924482	3	3	202	1	0	0	0	0	1	0	0	0	17657	72	3	5	523	5	ZFP42	4	188924482	Missense_Mutation	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	34380334	188924482	2229794	23	15977											
C6	729	genome.wustl.edu	37	chr5	41153915	41153915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgagctgctactcaccttTttcacaggtgagagagtttg	10	9	2	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr5:41153915T>C	ENST00000263413.3	-	15	2551	c.2287A>G	c.(2287-2289)Aaa>Gaa	p.K763E	C6_ENST00000337836.5_Missense_Mutation_p.K763E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	763	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TACTCACCTTTTTCACAGGTG	0.478																																																	0								ENSG00000039537						77	65	69					5																	41153915		2203	4300	6503	C6	SO:0001583	missense	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2287A>G	5.37:g.41153915T>C	ENSP00000263413:p.Lys763Glu	Somatic	0	58	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.77		Missense_Mutation	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.K763E	ENST00000263413.3	37	c.2287	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375278	0.24857	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60920	0.15;0.15	5.48	-0.314	0.12750	Sushi/SCR/CCP (1);	0.483231	0.24400	N	0.038859	T	0.33962	0.0881	N	0.17379	0.485	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.07347	-1.0777	10	0.18276	T	0.48	.	9.6154	0.39687	0.0:0.067:0.4197:0.5133	.	763	P13671	CO6_HUMAN	E	763	ENSP00000338861:K763E;ENSP00000263413:K763E	ENSP00000263413:K763E	K	-	1	0	C6	41189672	0.936000	0.31750	1.000000	0.80357	0.949000	0.60115	-0.220000	0.09215	0.353000	0.24079	0.374000	0.22700	AAA	-	pfscan_Sushi_SCR_CCP		0.478	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	T		-		41153915	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	SNP	0.998	C	C	41153915	T	C	41153915	3	2	202	1	0	0	0	0	1	0	0	0	2317	1850	64	5	533	5	C6	5	41153915	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		41153915	139761345	24	15978											
PARP8	79668	genome.wustl.edu	37	chr5	50130780	50130780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgatcacctcatctgAcctgcacaaacatggagaga	8	11	3	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr5:50130780A>C	ENST00000281631.5	+	25	2551	c.2393A>C	c.(2392-2394)gAc>gCc	p.D798A	PARP8_ENST00000505697.2_Missense_Mutation_p.D798A|PARP8_ENST00000514067.2_Missense_Mutation_p.D756A|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.D777A|PARP8_ENST00000503750.2_Missense_Mutation_p.D756A	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	798	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D798V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACCTCATCTGACCTGCACAAA	0.373																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000151883						119	113	115					5																	50130780		2203	4300	6503	PARP8	SO:0001583	missense	0			-	HGNC	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2393A>C	5.37:g.50130780A>C	ENSP00000281631:p.Asp798Ala	Somatic	0	35	0		0.664348379555697	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D798A	ENST00000281631.5	37	c.2393	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641329	0.67244	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.81	5.81	0.92471	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.055321	0.64402	D	0.000001	T	0.53594	0.1806	L	0.41356	1.27	0.80722	D	1	B;B;B	0.33694	0.262;0.421;0.262	B;B;B	0.38921	0.285;0.254;0.285	T	0.50013	-0.8877	8	.	.	.	-20.2021	16.1667	0.81768	1.0:0.0:0.0:0.0	.	690;756;798	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	A	798;756;798;756;777	.	.	D	+	2	0	PARP8	50166537	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.339000	0.96797	2.210000	0.71456	0.533000	0.62120	GAC	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.373	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	protein_coding	OTTHUMT00000214035.3	A	NM_024615	-		50130780	1	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50130780	A	C	50130780	3	2	202	1	0	0	0	0	1	0	0	0	11467	275	10	5	2491	5	PARP8	5	50130780	Missense_Mutation	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	8976865	50130780	130784480	25	15979											
ZCCHC9	84240	genome.wustl.edu	37	chr5	80604773	80604773	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgatttttacaggcgaatttCcttttgcaaaatgttttgtt	7	5	0	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr5:80604773C>G	ENST00000254037.2	+	3	3699	c.544C>G	c.(544-546)Cct>Gct	p.P182A	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.P182A|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.P182A|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.P182A			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	182					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AGGCGAATTTCCTTTTGCAAA	0.333																																																	0								ENSG00000131732						104	96	98					5																	80604773		2203	4300	6503	ZCCHC9	SO:0001583	missense	0			-	HGNC	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.544C>G	5.37:g.80604773C>G	ENSP00000254037:p.Pro182Ala	Somatic	0	51	0		0.664348379555697	90	2.17	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B2RAE7|Q9H027	Missense_Mutation	SNP							pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P182A	ENST00000254037.2	37	c.544	CCDS4054.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336601	0.81801	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.02	5.15	0.70609	Zinc finger, CCHC retroviral-type (1);	0.045183	0.85682	D	0.000000	T	0.62159	0.2405	M	0.75085	2.285	0.80722	D	1	D	0.61697	0.99	P	0.56434	0.798	T	0.62210	-0.6902	10	0.45353	T	0.12	-6.3586	14.383	0.66923	0.0:0.9291:0.0:0.0709	.	182	Q8N567	ZCHC9_HUMAN	A	182	ENSP00000254037:P182A;ENSP00000385047:P182A;ENSP00000369546:P182A;ENSP00000412637:P182A	ENSP00000254037:P182A	P	+	1	0	ZCCHC9	80640529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.639000	0.67868	2.865000	0.98341	0.655000	0.94253	CCT	-	superfamily_Znf_CCHC		0.333	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC9	protein_coding	OTTHUMT00000239213.1	C	NM_032280	-		80604773	1	no_errors	ENST00000254037	ensembl	human	known	74_37	missense	SNP	1.000	G	G	80604773	C	G	80604773	3	3	202	1	0	0	0	0	1	0	0	0	17602	855	30	4	554	4	ZCCHC9	5	80604773	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	30473993	80604773	100310487	26	15980											
HIST1H2AG	8969	genome.wustl.edu	37	chr6	27100857	27100857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagttgcgctcgctatgtctGgacgtggcaagcagggaggc	17	9	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr6:27100857G>C	ENST00000359193.2	+	1	26	c.7G>C	c.(7-9)Gga>Cga	p.G3R	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	3						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGCTATGTCTGGACGTGGCAA	0.582																																																	0								ENSG00000196787						41	47	45					6																	27100857		2198	4299	6497	HIST1H2AG	SO:0001583	missense	0			-	HGNC	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.7G>C	6.37:g.27100857G>C	ENSP00000352119:p.Gly3Arg	Somatic	0	42	0		0.664348379555697	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP							pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.G3R	ENST00000359193.2	37	c.7	CCDS4619.1	6	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591516	0.28357	.	.	ENSG00000196787	ENST00000359193	D	0.94376	-3.41	4.08	4.08	0.47627	Histone-fold (2);Histone H2A (1);	0.000000	0.39475	N	0.001347	D	0.95149	0.8428	.	.	.	0.42671	D	0.993519	D	0.63046	0.992	P	0.60886	0.88	D	0.95680	0.8731	9	0.87932	D	0	.	14.6102	0.68510	0.0:0.0:1.0:0.0	.	3	P0C0S8	H2A1_HUMAN	R	3	ENSP00000352119:G3R	ENSP00000352119:G3R	G	+	1	0	HIST1H2AG	27208836	1.000000	0.71417	0.999000	0.59377	0.159000	0.22180	8.726000	0.91474	2.217000	0.71921	0.655000	0.94253	GGA	-	superfamily_Histone-fold,smart_Histone_H2A		0.582	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	protein_coding	OTTHUMT00000040137.1	G	NM_021064	-		27100857	1	no_errors	ENST00000359193	ensembl	human	known	74_37	missense	SNP	1.000	C	C	27100857	G	C	27100857	3	2	202	1	0	0	0	0	1	0	0	0	7135	1349	47	4	9	4	HIST1H2AG	6	27100857	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09		27100857	144014210	27	15981											
PKHD1	5314	genome.wustl.edu	37	chr6	51923201	51923201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaccacatcaggattcaGccaggtgttgtgaatctgga	13	8	3	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr6:51923201G>T	ENST00000371117.3	-	16	1707	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	PKHD1_ENST00000340994.4_Missense_Mutation_p.L478M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	478					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)					TCAGGATTCAGCCAGGTGTTG	0.552																																																	0								ENSG00000170927						183	167	172					6																	51923201		2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	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.1432C>A	6.37:g.51923201G>T	ENSP00000360158:p.Leu478Met	Somatic	0	32	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.L478M	ENST00000371117.3	37	c.1432	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764158	0.69878	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88431	-2.38;-2.38	5.94	4.13	0.48395	.	0.000000	0.56097	D	0.000032	D	0.90577	0.7046	M	0.73598	2.24	0.28944	N	0.890791	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85596	0.1249	10	0.34782	T	0.22	.	12.5954	0.56465	0.1372:0.0:0.8628:0.0	.	478;478	P08F94-2;P08F94	.;PKHD1_HUMAN	M	478	ENSP00000360158:L478M;ENSP00000341097:L478M	ENSP00000341097:L478M	L	-	1	2	PKHD1	52031160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.985000	0.49362	0.811000	0.34303	0.650000	0.86243	CTG	-	NULL		0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	-		51923201	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	1.000	T	T	51923201	G	T	51923201	3	4	202	1	0	0	0	0	1	0	0	0	11973	962	34	3	11039	3	PKHD1	6	51923201	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	24822344	51923201	119191866	28	15982											
MYO6	4646	genome.wustl.edu	37	chr6	76617358	76617358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaaagcagctgctggTactaagaaatatgatcttag	9	9	1	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr6:76617358T>C	ENST00000369977.3	+	31	3352	c.3213T>C	c.(3211-3213)ggT>ggC	p.G1071G	MYO6_ENST00000369975.1_Silent_p.G1048G|MYO6_ENST00000369981.3_Silent_p.G1081G|MYO6_ENST00000369985.4_Silent_p.G1048G	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1080					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCTGCTGGTACTAAGAAAT	0.343																																																	0								ENSG00000196586						110	105	107					6																	76617358		2203	4300	6503	MYO6	SO:0001819	synonymous_variant	0			-	HGNC	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3213T>C	6.37:g.76617358T>C		Somatic	0	50	0		0.664348379555697	8	42.86	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.G1081	ENST00000369977.3	37	c.3243	CCDS34487.1	6																																																																																			-	NULL		0.343	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	protein_coding	OTTHUMT00000041279.2	T	NM_004999	-		76617358	1	no_errors	ENST00000369981	ensembl	human	known	74_37	silent	SNP	0.992	C	C	76617358	T	C	76617358	2	2	202	1	0	0	0	0	0	0	0	1	10083	1625	57	5		5	MYO6	6	76617358	Silent	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09	24694157	76617358	94497709	29	15983											
EPM2A	7957	genome.wustl.edu	37	chr6	145948787	145948787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccttctccagcagcGcatgcagcaggcacaccgcc	10	17	1	0	rs138798058		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr6:145948787G>A	ENST00000367519.3	-	4	1286	c.761C>T	c.(760-762)gCg>gTg	p.A254V		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	254	Tyrosine-protein phosphatase.				autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CTCCAGCAGCGCATGCAGCAG	0.627																																																	0								ENSG00000112425	G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	44	42	42		761,761	3.8	1	6	dbSNP_134	42	0,8600		0,0,4300	no	missense,missense	EPM2A	NM_001018041.1,NM_005670.3	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	254/318,254/332	145948787	1,13005	2203	4300	6503	EPM2A	SO:0001583	missense	0			-	HGNC	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.761C>T	6.37:g.145948787G>A	ENSP00000356489:p.Ala254Val	Somatic	0	34	0		0.664348379555697	16	5.88	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	56	25.33	B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_CBM_fam20,superfamily_Carb-bd-like_fold,smart_Dual-sp_phosphatase_subgr_cat,pfscan_CBM_fam20,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A254V	ENST00000367519.3	37	c.761	CCDS5206.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.074823|4.074823	0.76415|0.76415	2.27E-4|2.27E-4	0.0|0.0	ENSG00000112425|ENSG00000112425	ENST00000367519;ENST00000392304;ENST00000324857|ENST00000435470	D|.	0.86297|.	-2.1|.	5.72|5.72	3.85|3.85	0.44370|0.44370	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);|.	0.141111|.	0.64402|.	D|.	0.000005|.	T|T	0.48333|0.48333	0.1494|0.1494	L|L	0.46157|0.46157	1.445|1.445	0.40506|0.40506	D|D	0.980693|0.980693	P;P;B|.	0.44521|.	0.776;0.837;0.174|.	B;B;B|.	0.38880|.	0.284;0.254;0.054|.	T|T	0.48019|0.48019	-0.9071|-0.9071	10|5	0.42905|.	T|.	0.14|.	-20.5894|-20.5894	14.4639|14.4639	0.67470|0.67470	0.0:0.58:0.42:0.0|0.0:0.58:0.42:0.0	.|.	254;254;116|.	O95278;O95278-2;E1P599|.	EPM2A_HUMAN;.;.|.	V|C	254|174	ENSP00000356489:A254V|.	ENSP00000320279:A254V|.	A|R	-|-	2|1	0|0	EPM2A|EPM2A	145990480|145990480	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.828000|0.828000	0.46876|0.46876	4.388000|4.388000	0.59633|0.59633	1.362000|1.362000	0.46000|0.46000	0.557000|0.557000	0.71058|0.71058	GCG|CGC	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.627	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2A	protein_coding	OTTHUMT00000042564.1	G		rs138798058		145948787	-1	no_errors	ENST00000367519	ensembl	human	known	74_37	missense	SNP	1.000	A	A	145948787	G	A	145948787	3	1	202	1	0	0	0	0	1	0	0	0	5185	1087	38	1	272	1	EPM2A	6	145948787	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	69331429	145948787	25166280	30	15984											
HOXA4	3201	genome.wustl.edu	37	chr7	27169165	27169165	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggttcgagagcgcttaggCtcccctccgttataactggg	13	12	0	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr7:27169165C>G	ENST00000360046.5	-	2	707	c.642G>C	c.(640-642)gaG>gaC	p.E214D	HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.E214D|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	214					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGCGCTTAGGCTCCCCTCCGT	0.577																																																	0								ENSG00000197576						55	55	55					7																	27169165		2203	4300	6503	HOXA4	SO:0001583	missense	0			-	HGNC		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.642G>C	7.37:g.27169165C>G	ENSP00000353151:p.Glu214Asp	Somatic	0	25	0		0.664348379555697	0	100	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	A4D180|O43366	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E214D	ENST00000360046.5	37	c.642	CCDS5405.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.54|13.54	2.267645|2.267645	0.40095|0.40095	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000511914|ENST00000360046;ENST00000428284	.|D;D	.|0.95622	.|-3.76;-3.76	5.29|5.29	1.99|1.99	0.26369|0.26369	.|Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	.|0.000000	.|0.41605	.|D	.|0.000846	D|D	0.92776|0.92776	0.7703|0.7703	L|L	0.60845|0.60845	1.875|1.875	0.32525|0.32525	N|N	0.53568|0.53568	.|B	.|0.21520	.|0.057	.|B	.|0.26770	.|0.073	D|D	0.91177|0.91177	0.4973|0.4973	5|10	.|0.59425	.|D	.|0.04	.|.	8.9809|8.9809	0.35964|0.35964	0.0:0.6358:0.0:0.3642|0.0:0.6358:0.0:0.3642	.|.	.|214	.|Q00056	.|HXA4_HUMAN	P|D	34|214	.|ENSP00000353151:E214D;ENSP00000408845:E214D	.|ENSP00000353151:E214D	A|E	-|-	1|3	0|2	HOXA4|HOXA4	27135690|27135690	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.273000|0.273000	0.18662|0.18662	0.596000|0.596000	0.29794|0.29794	0.555000|0.555000	0.69702|0.69702	GCC|GAG	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom		0.577	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	protein_coding	OTTHUMT00000059534.4	C		-		27169165	-1	no_errors	ENST00000360046	ensembl	human	known	74_37	missense	SNP	1.000	G	G	27169165	C	G	27169165	3	3	202	1	0	0	0	0	1	0	0	0	7296	796	28	4	324	4	HOXA4	7	27169165	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		27169165	131969498	31	15985											
PAX4	5078	genome.wustl.edu	37	chr7	127251688	127251688	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcaggagggacccagtggttCcagggcaggcagggctgctg	19	10	0	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr7:127251688C>A	ENST00000341640.2	-	8	995	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	PAX4_ENST00000338516.3_Missense_Mutation_p.G253V|PAX4_ENST00000378740.2_Nonsense_Mutation_p.E264*|PAX4_ENST00000463946.1_Nonsense_Mutation_p.E262*	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	272					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCAGTGGTTCCAGGGCAGGC	0.562																																					Ovarian(113;737 1605 7858 27720 34092)												0								ENSG00000106331						63	68	66					7																	127251688		2203	4300	6503	PAX4	SO:0001587	stop_gained	0			-	HGNC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.790G>T	7.37:g.127251688C>A	ENSP00000339906:p.Glu264*	Somatic	0	32	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O95161|Q6B0H0	Nonsense_Mutation	SNP							pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.E264*	ENST00000341640.2	37	c.790	CCDS5797.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.269646|4.269646	0.80469|0.80469	.|.	.|.	ENSG00000106331|ENSG00000106331	ENST00000341640;ENST00000378740;ENST00000463946|ENST00000338516	.|D	.|0.93763	.|-3.28	5.24|5.24	2.3|2.3	0.28687|0.28687	.|.	1.737350|.	0.02971|.	N|.	0.144436|.	.|D	.|0.84374	.|0.5458	.|.	.|.	.|.	0.21386|0.21386	N|N	0.999704|0.999704	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72465	.|-0.4285	.|6	0.32370|0.14252	T|T	0.25|0.57	.|.	4.524|4.524	0.11973|0.11973	0.0:0.6192:0.1845:0.1963|0.0:0.6192:0.1845:0.1963	.|.	.|.	.|.	.|.	X|V	264;272;262|253	.|ENSP00000344297:G253V	ENSP00000339906:E264X|ENSP00000344297:G253V	E|G	-|-	1|2	0|0	PAX4|PAX4	127038924|127038924	0.006000|0.006000	0.16342|0.16342	0.625000|0.625000	0.29200|0.29200	0.070000|0.070000	0.16714|0.16714	1.301000|1.301000	0.33447|0.33447	1.352000|1.352000	0.45808|0.45808	0.561000|0.561000	0.74099|0.74099	GAA|GGA	-	NULL		0.562	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	protein_coding	OTTHUMT00000349165.1	C		-		127251688	-1	no_errors	ENST00000341640	ensembl	human	known	74_37	nonsense	SNP	0.212	A	A	127251688	C	A	127251688	4	1	202	1	0	0	0	0	0	1	0	0	11483	864	30	3	249	3	PAX4	7	127251688	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	100082523	127251688	31886975	32	15986											
IRF5	3663	genome.wustl.edu	37	chr7	128587589	128587589	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcagcccccacatgctgcctCgtaaggacccatggctgggc	11	16	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr7:128587589C>A	ENST00000402030.2	+	6	811	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	IRF5_ENST00000477535.1_Intron|IRF5_ENST00000357234.5_Splice_Site_p.L263M|IRF5_ENST00000473745.1_Splice_Site_p.L247M|IRF5_ENST00000249375.4_Splice_Site_p.L247M	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	247					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CATGCTGCCTCGTAAGGACCC	0.652																																																	0								ENSG00000128604						17	19	18					7																	128587589		2108	4170	6278	IRF5	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.739+1C>A	7.37:g.128587589C>A		Somatic	0	33	0		0.664348379555697	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP							pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.L263M	ENST00000402030.2	37	c.787	CCDS5808.1	7	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642444	0.29246	.	.	ENSG00000128604	ENST00000357234;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.26	-7.45	0.01374	SMAD domain-like (1);SMAD/FHA domain (1);	0.532158	0.15805	N	0.243778	D	0.92570	0.7640	N	0.21282	0.65	0.26611	N	0.97285	D;P	0.76494	0.999;0.779	D;P	0.77557	0.99;0.585	D	0.86621	0.1879	10	0.21540	T	0.41	-0.869	15.9499	0.79827	0.0:0.2802:0.0:0.7198	.	247;263	Q13568;Q13568-2	IRF5_HUMAN;.	M	263;247;247;247;237	ENSP00000349770:L263M;ENSP00000385352:L247M;ENSP00000249375:L247M;ENSP00000419149:L247M	ENSP00000249375:L247M	L	+	1	2	IRF5	128374825	0.000000	0.05858	0.016000	0.15963	0.944000	0.59088	-1.501000	0.02281	-1.664000	0.01479	-0.254000	0.11334	CTG	-	superfamily_SMAD_FHA_domain		0.652	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	C	NM_001098627	-	Missense_Mutation	128587589	1	no_errors	ENST00000357234	ensembl	human	known	74_37	missense	SNP	0.005	A	A	128587589	C	A	128587589	5	1	202	1	0	0	0	0	0	0	1	0	7835	898	31	3	805	3	IRF5	7	128587589	Splice_Site	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	1335901	128587589	30551074	33	15987											
MGAM	8972	genome.wustl.edu	37	chr7	141736023	141736023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgaggagctctgtaggCggtggatgcagttgggtgca	17	9	1	1	rs374646574		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr7:141736023C>T	ENST00000549489.2	+	17	2109	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	MGAM_ENST00000475668.2_Missense_Mutation_p.R672W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	672	Maltase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCTGTAGGCGGTGGATGCA	0.483																																																	0								ENSG00000257335	C	TRP/ARG	0,3908		0,0,1954	127	123	125		2014	-0.5	0.4	7		125	1,8303		0,1,4151	no	missense	MGAM	NM_004668.2	101	0,1,6105	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	672/1858	141736023	1,12211	1954	4152	6106	MGAM	SO:0001583	missense	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2014C>T	7.37:g.141736023C>T	ENSP00000447378:p.Arg672Trp	Somatic	0	56	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	63	50.39	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R672W	ENST00000549489.2	37	c.2014	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918703	0.73098	0.0	1.2E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.97430	-4.38	5.34	-0.462	0.12168	Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000101	D	0.99177	0.9715	H	0.99726	4.73	0.39518	D	0.968466	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.87932	D	0	.	17.0597	0.86543	0.7229:0.2771:0.0:0.0	.	672	O43451	MGA_HUMAN	W	672;672;549	ENSP00000447378:R672W	ENSP00000316431:R549W	R	+	1	2	MGAM	141382492	0.763000	0.28462	0.382000	0.26119	0.965000	0.64279	1.089000	0.30890	-0.197000	0.10350	0.650000	0.86243	CGG	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	C		-		141736023	1	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	SNP	0.918	T	T	141736023	C	T	141736023	3	4	202	1	0	0	0	0	1	0	0	0	9543	759	27	1	2076	1	MGAM	7	141736023	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	13148434	141736023	17402640	34	15988											
ADAM28	10863	genome.wustl.edu	37	chr8	24157585	24157585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggccaaagagccagagCaacaggtacagcttttgatt	12	8	0	4			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr8:24157585C>A	ENST00000265769.4	+	2	255	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.Q49K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	49					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGAGCCAGAGCAACAGGTACA	0.353																																					NSCLC(193;488 2149 22258 34798 40734)												0								ENSG00000042980						85	89	88					8																	24157585		2203	4300	6503	ADAM28	SO:0001583	missense	0			-	HGNC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.145C>A	8.37:g.24157585C>A	ENSP00000265769:p.Gln49Lys	Somatic	0	33	0		0.664348379555697	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q49K	ENST00000265769.4	37	c.145	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	C	0.186	-1.057623	0.01965	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.06068	3.35;3.35	3.75	0.597	0.17504	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.21147	N	0.999778	B;B	0.10296	0.002;0.003	B;B	0.12837	0.008;0.002	T	0.46414	-0.9193	9	0.06236	T	0.91	.	9.613	0.39674	0.6805:0.3195:0.0:0.0	.	49;49	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	K	49	ENSP00000265769:Q49K;ENSP00000393699:Q49K	ENSP00000265769:Q49K	Q	+	1	0	ADAM28	24213530	0.000000	0.05858	0.086000	0.20670	0.035000	0.12851	-0.340000	0.07821	0.105000	0.17753	0.313000	0.20887	CAA	-	pfam_Peptidase_M12B_N		0.353	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	protein_coding	OTTHUMT00000375441.2	C	NM_021778	-		24157585	1	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	SNP	0.084	A	A	24157585	C	A	24157585	3	1	202	1	0	0	0	0	1	0	0	0	246	711	25	3	151	3	ADAM28	8	24157585	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		24157585	122206437	35	15989											
PTK2B	2185	genome.wustl.edu	37	chr8	27297937	27297937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaccggccccgcttcaCcgagctggtgtgcagcctca	12	16	2	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr8:27297937C>T	ENST00000397501.1	+	26	2826	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	PTK2B_ENST00000397497.4_Missense_Mutation_p.T419I|PTK2B_ENST00000338238.4_Missense_Mutation_p.T673I|PTK2B_ENST00000544172.1_Missense_Mutation_p.T673I|PTK2B_ENST00000420218.2_Missense_Mutation_p.T673I|PTK2B_ENST00000517339.1_Missense_Mutation_p.T673I|PTK2B_ENST00000346049.5_Missense_Mutation_p.T673I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	673	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CCCCGCTTCACCGAGCTGGTG	0.642																																																	0								ENSG00000120899						50	47	48					8																	27297937		2203	4300	6503	PTK2B	SO:0001583	missense	0			-	HGNC	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2018C>T	8.37:g.27297937C>T	ENSP00000380638:p.Thr673Ile	Somatic	0	34	0		0.664348379555697	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T673I	ENST00000397501.1	37	c.2018	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589283	0.66105	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.73	4.85	0.62838	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.089073	0.85682	D	0.000000	D	0.83492	0.5266	L	0.41632	1.29	0.58432	D	0.999999	P;B;B	0.47302	0.893;0.251;0.007	P;B;B	0.52386	0.697;0.205;0.023	D	0.84586	0.0664	10	0.59425	D	0.04	.	13.8652	0.63583	0.1538:0.8462:0.0:0.0	.	419;673;673	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	I	673;678;673;673;673;673;673;419	ENSP00000380638:T673I;ENSP00000342242:T673I;ENSP00000440926:T673I;ENSP00000332816:T673I;ENSP00000391995:T673I;ENSP00000427931:T673I;ENSP00000380634:T419I	ENSP00000342242:T673I	T	+	2	0	PTK2B	27353854	0.986000	0.35501	0.899000	0.35326	0.908000	0.53690	2.763000	0.47605	1.407000	0.46875	0.655000	0.94253	ACC	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.642	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	protein_coding	OTTHUMT00000219916.1	C	NM_004103	-		27297937	1	no_errors	ENST00000346049	ensembl	human	known	74_37	missense	SNP	0.994	T	T	27297937	C	T	27297937	3	4	202	1	0	0	0	0	1	0	0	0	12769	507	18	2	2096	2	PTK2B	8	27297937	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	3140352	27297937	119066085	36	15990											
VPS13A	23230	genome.wustl.edu	37	chr9	79999548	79999550	+	Intron	DEL	TGA	TGA	-													atgactcacagtagcagtagTgatgatgatgatgatgatga					rs142234061|rs373635958		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr9:79999548_79999550delTGA	ENST00000360280.3	+	68	9449				VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_In_Frame_Del_p.D3089del	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTAGCAGTAGtgatgatgatgat	0.33																																																	0								ENSG00000197969																																			VPS13A	SO:0001627	intron_variant	0				HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9189+2545TGA>-	9.37:g.79999557_79999559delTGA		Somatic	0	15	0		0.664348379555697	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.D3083in_frame_del	ENST00000360280.3	37	c.9237_9239	CCDS6655.1	9																																																																																			-	NULL		0.33	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	TGA	NM_015186			79999550	1	no_errors	ENST00000357409	ensembl	human	known	74_37	in_frame_del	DEL	0.999:0.998:0.997	-	-	79999550	TGA	-	79999548	6	5	202	0	1	1	0	1	0	0	0	0	17196	1693	59	0		0	VPS13A	9	79999548	Intron	DEL	TGA	TCGA-QQ-A5VC-01A-31D-A32I-09		79999548	61213883	37	15991											
FANCC	2176	genome.wustl.edu	37	chr9	98011420	98011420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actacttaccatctctttcaAggcttcatacatcttcctta	2	13	4	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr9:98011420A>T	ENST00000289081.3	-	2	408	c.154T>A	c.(154-156)Ttg>Atg	p.L52M	FANCC_ENST00000375305.1_Missense_Mutation_p.L52M	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	52					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)				ATCTCTTTCAAGGCTTCATAC	0.458			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0								ENSG00000158169						113	105	108					9																	98011420		2203	4300	6503	FANCC	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	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.154T>A	9.37:g.98011420A>T	ENSP00000289081:p.Leu52Met	Somatic	0	27	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	B1ALR8	Missense_Mutation	SNP							pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.L52M	ENST00000289081.3	37	c.154	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608764	0.46527	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.64438	-0.1;-0.1;-0.1	5.13	3.99	0.46301	.	0.079487	0.50627	D	0.000102	T	0.71316	0.3325	M	0.65498	2.005	0.36645	D	0.87707	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73726	-0.3892	10	0.44086	T	0.13	-12.3358	4.2155	0.10531	0.6386:0.0:0.2198:0.1416	.	52;52	B1ALR7;Q00597	.;FANCC_HUMAN	M	52	ENSP00000289081:L52M;ENSP00000364454:L52M;ENSP00000406908:L52M	ENSP00000289081:L52M	L	-	1	2	FANCC	97051241	0.991000	0.36638	0.997000	0.53966	0.972000	0.66771	1.631000	0.37092	1.087000	0.41251	0.528000	0.53228	TTG	-	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi		0.458	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	protein_coding	OTTHUMT00000053219.1	A	NM_000136	-		98011420	-1	no_errors	ENST00000289081	ensembl	human	known	74_37	missense	SNP	0.963	T	T	98011420	A	T	98011420	3	4	202	1	0	0	0	0	1	0	0	0	5666	69	3	5	1578	5	FANCC	9	98011420	Missense_Mutation	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	18011872	98011420	43202011	38	15992											
RXRA	6256	genome.wustl.edu	37	chr9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgcctgccggctctgcgctCcatcgggctcaaatgcctgg	12	17	2	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr9:137328351C>A	ENST00000481739.1	+	10	1332	c.1280C>A	c.(1279-1281)tCc>tAc	p.S427Y	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330Y	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																																	0								ENSG00000186350						132	117	122					9																	137328351		2203	4300	6503	RXRA	SO:0001583	missense	0			-	HGNC	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>A	9.37:g.137328351C>A	ENSP00000419692:p.Ser427Tyr	Somatic	0	40	0		0.664348379555697	208	19.07	49	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	81	15.62	B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt	p.S427Y	ENST00000481739.1	37	c.1280	CCDS35172.1	9	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763145	0.89932	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96913	-4.17;-4.17	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99823	1.1048	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	Y	427;330	ENSP00000419692:S427Y;ENSP00000442123:S330Y	ENSP00000419692:S427Y	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	protein_coding	OTTHUMT00000054949.1	C	NM_002957	-		137328351	1	no_errors	ENST00000481739	ensembl	human	known	74_37	missense	SNP	1.000	A	A	137328351	C	A	137328351	3	1	202	1	0	0	0	0	1	0	0	0	13771	855	30	3	1318	3	RXRA	9	137328351	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	39316931	137328351	3885080	39	15993											
FRMPD2	143162	genome.wustl.edu	37	chr10	49371536	49371536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtctctctctgtttTggccccattgtgcctctctg	8	15	3	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr10:49371536T>C	ENST00000374201.3	-	28	4018	c.3716A>G	c.(3715-3717)cAa>cGa	p.Q1239R	FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q1207R|FRMPD2_ENST00000474573.1_Missense_Mutation_p.Q191R|FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q1214R|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1239					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCTCTGTTTTGGCCCCATTG	0.547																																																	0								ENSG00000170324						1	1	1					10																	49371536		501	1145	1646	FRMPD2	SO:0001583	missense	0			-	HGNC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3716A>G	10.37:g.49371536T>C	ENSP00000363317:p.Gln1239Arg	Somatic	0	36	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	41.18	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP							pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.Q1239R	ENST00000374201.3	37	c.3716	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	T	9.600	1.128464	0.21041	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.64260	3.62;-0.05;-0.09;-0.09	3.42	0.767	0.18482	.	.	.	.	.	T	0.40791	0.1131	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.002;0.001;0.002;0.004	B;B;B;B;B	0.11329	0.006;0.004;0.002;0.004;0.004	T	0.23440	-1.0188	9	0.34782	T	0.22	.	5.4707	0.16668	0.0:0.3725:0.0:0.6275	.	191;1214;1239;1207;250	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	R	191;1239;1214;1207	ENSP00000422446:Q191R;ENSP00000363317:Q1239R;ENSP00000307079:Q1214R;ENSP00000384339:Q1207R	ENSP00000307079:Q1214R	Q	-	2	0	FRMPD2	49041542	0.000000	0.05858	0.025000	0.17156	0.210000	0.24377	-0.560000	0.05964	0.381000	0.24851	0.454000	0.30748	CAA	-	NULL		0.547	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	T	NM_152428	-		49371536	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	SNP	0.011	C	C	49371536	T	C	49371536	3	2	202	1	0	0	0	0	1	0	0	0	6060	1812	63	5	221	5	FRMPD2	10	49371536	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		49371536	86163211	40	15994											
MS4A2	2206	genome.wustl.edu	37	chr11	59857211	59857211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctccccaggaagtatctTcaggcagactattgaagtcg	9	10	3	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr11:59857211T>C	ENST00000278888.3	+	2	205	c.103T>C	c.(103-105)Tca>Cca	p.S35P		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	35					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GGAAGTATCTTCAGGCAGACT	0.468																																																	0								ENSG00000149534						133	128	130					11																	59857211		2201	4295	6496	MS4A2	SO:0001583	missense	0			-	HGNC	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.103T>C	11.37:g.59857211T>C	ENSP00000278888:p.Ser35Pro	Somatic	0	38	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	Q54A81	Missense_Mutation	SNP							pfam_CD20-like	p.S35P	ENST00000278888.3	37	c.103	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	T	7.946	0.743788	0.15642	.	.	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.85411	-1.98;2.06	3.89	-3.36	0.04913	.	13.823300	0.00166	N	0.000000	T	0.70954	0.3283	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57254	-0.7843	10	0.26408	T	0.33	3.3627	5.3408	0.15982	0.1278:0.671:0.0:0.2012	.	35	Q01362	FCERB_HUMAN	P	35	ENSP00000433311:S35P;ENSP00000278888:S35P	ENSP00000278888:S35P	S	+	1	0	MS4A2	59613787	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.849000	0.04322	-0.605000	0.05753	0.377000	0.23210	TCA	-	NULL		0.468	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	protein_coding	OTTHUMT00000393844.1	T		-		59857211	1	no_errors	ENST00000278888	ensembl	human	known	74_37	missense	SNP	0.000	C	C	59857211	T	C	59857211	3	2	202	1	0	0	0	0	1	0	0	0	9862	1783	62	5	109	5	MS4A2	11	59857211	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		59857211	75149305	41	15995											
AHNAK	79026	genome.wustl.edu	37	chr11	62286369	62286369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatctaggccttcgatgtTgatgtcaggtgcacccaagt	11	10	2	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr11:62286369T>C	ENST00000378024.4	-	5	15794	c.15520A>G	c.(15520-15522)Aac>Gac	p.N5174D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5174					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCGATGTTGATGTCAGGT	0.488																																																	0								ENSG00000124942						110	108	109					11																	62286369		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15520A>G	11.37:g.62286369T>C	ENSP00000367263:p.Asn5174Asp	Somatic	0	31	0		0.664348379555697	354	47.48	320	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N5174D	ENST00000378024.4	37	c.15520	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	T	0.523	-0.861495	0.02610	.	.	ENSG00000124942	ENST00000378024	T	0.00557	6.62	4.84	2.36	0.29203	.	0.353012	0.25660	N	0.029143	T	0.00580	0.0019	L	0.38175	1.15	0.19300	N	0.999976	P	0.35507	0.506	B	0.43783	0.431	T	0.42783	-0.9431	10	0.09590	T	0.72	-22.6947	10.0799	0.42384	0.0:0.0:0.3241:0.6759	.	5174	Q09666	AHNK_HUMAN	D	5174	ENSP00000367263:N5174D	ENSP00000367263:N5174D	N	-	1	0	AHNAK	62042945	0.000000	0.05858	0.041000	0.18516	0.035000	0.12851	0.767000	0.26575	0.242000	0.21303	0.523000	0.50628	AAC	-	NULL		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	T	NM_024060	-		62286369	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	0.569	C	C	62286369	T	C	62286369	3	2	202	1	0	0	0	0	1	0	0	0	414	1812	63	5	2272	5	AHNAK	11	62286369	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09	2429158	62286369	72720147	42	15996											
SHANK2	22941	genome.wustl.edu	37	chr11	70332048	70332048	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggttggctggagttcaaCgaaggggactgaggggtgtc	19	5	1	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr11:70332048C>A	ENST00000423696.2	-	15	3249	c.3213G>T	c.(3211-3213)tcG>tcT	p.S1071S	SHANK2_ENST00000449833.2_Silent_p.S855S|SHANK2_ENST00000409161.1_Silent_p.S854S|SHANK2_ENST00000338508.4_Silent_p.S1451S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1071					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGAGTTCAACGAAGGGGACT	0.527																																																	0								ENSG00000162105						78	82	80					11																	70332048		2200	4294	6494	SHANK2	SO:0001819	synonymous_variant	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3213G>T	11.37:g.70332048C>A		Somatic	0	33	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.S1451	ENST00000423696.2	37	c.4353		11																																																																																			-	NULL		0.527	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		C	NM_012309	-		70332048	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	silent	SNP	0.015	A	A	70332048	C	A	70332048	2	1	202	1	0	0	0	0	0	0	0	1	14273	523	19	3		3	SHANK2	11	70332048	Silent	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	8045679	70332048	64674468	43	15997											
PCF11	51585	genome.wustl.edu	37	chr11	82880377	82880377	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtttgaaggccctttagtCcaacaaggaggtggaatgag	14	6	0	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr11:82880377C>T	ENST00000298281.4	+	8	3452	c.3000C>T	c.(2998-3000)gtC>gtT	p.V1000V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1000	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCCCTTTAGTCCAACAAGGAG	0.502																																																	0								ENSG00000165494						88	87	87					11																	82880377		1917	4124	6041	PCF11	SO:0001819	synonymous_variant	0			-	HGNC	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3000C>T	11.37:g.82880377C>T		Somatic	0	62	0		0.664348379555697	16	33.33	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.86	A6H8W7|O43671|Q6P0X8	Silent	SNP							pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.V1000	ENST00000298281.4	37	c.3000	CCDS44689.1	11																																																																																			-	NULL		0.502	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	protein_coding	OTTHUMT00000392548.2	C	NM_015885	-		82880377	1	no_errors	ENST00000298281	ensembl	human	known	74_37	silent	SNP	0.276	T	T	82880377	C	T	82880377	2	4	202	1	0	0	0	0	0	0	0	1	11575	842	30	2		2	PCF11	11	82880377	Silent	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	12548329	82880377	52126139	44	15998											
FAT3	120114	genome.wustl.edu	37	chr11	92531098	92531098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatgggtcagtttgtcctatCcatcaaagtcacagatcagg	10	9	4	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr11:92531098C>A	ENST00000298047.6	+	9	4936	c.4919C>A	c.(4918-4920)tCc>tAc	p.S1640Y	FAT3_ENST00000409404.2_Missense_Mutation_p.S1640Y|FAT3_ENST00000525166.1_Missense_Mutation_p.S1490Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1640	Cadherin 15. {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)				TTTGTCCTATCCATCAAAGTC	0.478										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						105	104	104					11																	92531098		1998	4162	6160	FAT3	SO:0001583	missense	0			-	HGNC	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.4919C>A	11.37:g.92531098C>A	ENSP00000298047:p.Ser1640Tyr	Somatic	0	44	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1640Y	ENST00000298047.6	37	c.4919		11	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783119	0.49891	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52295	0.67;0.67;0.67	5.81	5.81	0.92471	.	.	.	.	.	T	0.59128	0.2171	L	0.31476	0.935	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.56780	-0.7922	9	0.45353	T	0.12	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	1640	Q8TDW7-3	.	Y	1640;1640;1490	ENSP00000298047:S1640Y;ENSP00000387040:S1640Y;ENSP00000432586:S1490Y	ENSP00000298047:S1640Y	S	+	2	0	FAT3	92170746	0.995000	0.38212	0.998000	0.56505	0.020000	0.10135	3.249000	0.51437	2.755000	0.94549	0.650000	0.86243	TCC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.478	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92531098	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A	A	92531098	C	A	92531098	3	1	202	1	0	0	0	0	1	0	0	0	5693	855	30	3	4953	3	FAT3	11	92531098	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	9650721	92531098	42475418	45	15999											
MMP27	64066	genome.wustl.edu	37	chr11	102567418	102567418	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctcaccatagatggactgGattccattgatatcatcctg	8	10	2	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr11:102567418G>T	ENST00000260229.4	-	5	859	c.768C>A	c.(766-768)atC>atA	p.I256I		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	256					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	AGATGGACTGGATTCCATTGA	0.363																																																	0								ENSG00000137675						83	81	82					11																	102567418		2203	4299	6502	MMP27	SO:0001819	synonymous_variant	0			-	HGNC	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.768C>A	11.37:g.102567418G>T		Somatic	0	35	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q6UWK6	Silent	SNP							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.I256	ENST00000260229.4	37	c.768	CCDS8319.1	11																																																																																			-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A		0.363	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	protein_coding	OTTHUMT00000398128.1	G	NM_022122	-		102567418	-1	no_errors	ENST00000260229	ensembl	human	known	74_37	silent	SNP	0.999	T	T	102567418	G	T	102567418	2	4	202	1	0	0	0	0	0	0	0	1	9666	1164	41	3		3	MMP27	11	102567418	Silent	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	10036320	102567418	32439098	46	16000											
KRT75	9119	genome.wustl.edu	37	chr12	52818504	52818504	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctccaatgctgctgccgcTtccatagccactggaaagag	9	14	0	1	rs298104	byFrequency	TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:52818504T>A	ENST00000252245.5	-	9	1673	c.1453A>T	c.(1453-1455)Agc>Tgc	p.S485C	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	485	Tail.		S -> R (in dbSNP:rs298104). {ECO:0000269|PubMed:10692104, ECO:0000269|PubMed:9856802}.		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)		CTGCTGCCGCTTCCATAGCCA	0.617																																																	0								ENSG00000170454						56	58	58					12																	52818504		2203	4300	6503	KRT75	SO:0001583	missense	0			-	HGNC	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.1453A>T	12.37:g.52818504T>A	ENSP00000252245:p.Ser485Cys	Somatic	0	35	0		0.664348379555697	8	42.86	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	49	57.36	B4DQU4|Q9NSA9	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S485C	ENST00000252245.5	37	c.1453	CCDS8827.1	12	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.988626	0.00443	.	.	ENSG00000170454	ENST00000252245	D	0.87809	-2.3	4.88	-3.45	0.04781	.	0.870040	0.09748	N	0.761018	T	0.81536	0.4843	M	0.71581	2.175	0.80722	P	0.0	P	0.51653	0.947	B	0.40199	0.322	T	0.74420	-0.3671	9	0.16896	T	0.51	.	8.4498	0.32864	0.0:0.1452:0.1428:0.712	.	485	O95678	K2C75_HUMAN	C	485	ENSP00000252245:S485C	ENSP00000252245:S485C	S	-	1	0	KRT75	51104771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.323000	0.07997	-1.252000	0.02491	-2.506000	0.00189	AGC	-	NULL		0.617	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	protein_coding	OTTHUMT00000404968.1	T	NM_004693	-		52818504	-1	no_errors	ENST00000252245	ensembl	human	known	74_37	missense	SNP	0.000	A	A	52818504	T	A	52818504	3	1	202	1	0	0	0	0	1	0	0	0	8490	1609	56	5	206	5	KRT75	12	52818504	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		52818504	81033391	47	16001											
OR9K2	441639	genome.wustl.edu	37	chr12	55524485	55524485	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcccatgttgaatcctttGatttactctctgaggaacaa	6	10	1	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:55524485G>A	ENST00000305377.5	+	1	1021	c.933G>A	c.(931-933)ttG>ttA	p.L311L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	311						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGAATCCTTTGATTTACTCTC	0.348																																																	0								ENSG00000170605						112	109	110					12																	55524485		2203	4300	6503	OR9K2	SO:0001819	synonymous_variant	0			-	HGNC	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.933G>A	12.37:g.55524485G>A		Somatic	0	62	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	60	26.83	B9EH19|Q6IFD6	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L311	ENST00000305377.5	37	c.933	CCDS31814.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.348	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	protein_coding	OTTHUMT00000406105.1	G		-		55524485	1	no_errors	ENST00000305377	ensembl	human	known	74_37	silent	SNP	0.901	A	A	55524485	G	A	55524485	2	1	202	1	0	0	0	0	0	0	0	1	11256	1281	45	2		2	OR9K2	12	55524485	Silent	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	2705981	55524485	78327410	48	16002											
C12orf66	144577	genome.wustl.edu	37	chr12	64588028	64588028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaaattaaggacacattgGcagcatcatattttctgatg	7	7	2	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:64588028G>T	ENST00000398055.3	-	3	985	c.932C>A	c.(931-933)gCc>gAc	p.A311D	C12orf66_ENST00000544871.1_Missense_Mutation_p.A258D|C12orf66_ENST00000311915.8_Missense_Mutation_p.A311D	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	311										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GGACACATTGGCAGCATCATA	0.448																																																	0								ENSG00000174206						97	91	93					12																	64588028		1845	4096	5941	C12orf66	SO:0001583	missense	0			-	HGNC		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.932C>A	12.37:g.64588028G>T	ENSP00000381132:p.Ala311Asp	Somatic	0	29	0		0.664348379555697	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	C9JX54|Q8IYA0	Missense_Mutation	SNP							pfam_DUF2003	p.A311D	ENST00000398055.3	37	c.932	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	7.096	0.573064	0.13623	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.34667	1.35;1.35;1.35	6.07	6.07	0.98685	.	0.245141	0.48767	D	0.000165	T	0.40347	0.1113	L	0.47716	1.5	0.35750	D	0.819356	B;B	0.20887	0.039;0.049	B;B	0.42653	0.394;0.107	T	0.49899	-0.8890	9	.	.	.	-22.8935	7.9988	0.30284	0.1837:0.0:0.8163:0.0	.	258;311	F5H2Q3;Q96MD2	.;CL066_HUMAN	D	311;258;311	ENSP00000311486:A311D;ENSP00000445481:A258D;ENSP00000381132:A311D	.	A	-	2	0	C12orf66	62874295	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.112000	0.57845	2.885000	0.99019	0.655000	0.94253	GCC	-	pfam_DUF2003		0.448	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	protein_coding	OTTHUMT00000400921.1	G	NM_152440	-		64588028	-1	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64588028	G	T	64588028	3	4	202	1	0	0	0	0	1	0	0	0	1711	1203	42	3	409	3	C12orf66	12	64588028	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	9063543	64588028	69263867	49	16003											
NAV3	89795	genome.wustl.edu	37	chr12	78334106	78334106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgttcaacagatttacaCtgactgggccaaccactacc	6	14	2	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:78334106C>T	ENST00000397909.2	+	2	424	c.251C>T	c.(250-252)aCt>aTt	p.T84I	NAV3_ENST00000536525.2_Missense_Mutation_p.T84I|NAV3_ENST00000228327.6_Missense_Mutation_p.T84I|NAV3_ENST00000266692.7_Missense_Mutation_p.T84I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	84	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGATTTACACTGACTGGGCC	0.443										HNSCC(70;0.22)																																							0								ENSG00000067798						160	164	163					12																	78334106		1920	4163	6083	NAV3	SO:0001583	missense	0			-	HGNC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.251C>T	12.37:g.78334106C>T	ENSP00000381007:p.Thr84Ile	Somatic	0	23	0		0.664348379555697	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP							pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T84I	ENST00000397909.2	37	c.251		12	.	.	.	.	.	.	.	.	.	.	C	32	5.141575	0.94560	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	5.6	5.6	0.85130	Calponin homology domain (5);	0.000000	0.39274	U	0.001420	D	0.98128	0.9382	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98863	1.0763	10	0.87932	D	0	-19.4668	19.6128	0.95616	0.0:1.0:0.0:0.0	.	84;84	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	I	84	ENSP00000446628:T84I;ENSP00000446132:T84I;ENSP00000381007:T84I;ENSP00000228327:T84I;ENSP00000266692:T84I	ENSP00000228327:T84I	T	+	2	0	NAV3	76858237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.812000	0.86109	2.628000	0.89032	0.637000	0.83480	ACT	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.443	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	C	NM_001024383	-		78334106	1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78334106	C	T	78334106	3	4	202	1	0	0	0	0	1	0	0	0	10187	565	20	2	257	2	NAV3	12	78334106	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	13746078	78334106	55517789	50	16004											
MGAT4C	25834	genome.wustl.edu	37	chr12	86383241	86383241	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatgacaagaactcccaaGaatgacactgtagaacgttt	7	8	0	5	rs138787902		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:86383241G>T	ENST00000604798.1	-	6	1288	c.84C>A	c.(82-84)ttC>ttA	p.F28L	MGAT4C_ENST00000548651.1_Missense_Mutation_p.F28L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.F28L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.F28L|MGAT4C_ENST00000552435.2_Missense_Mutation_p.F28L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F57L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.F28L			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	28					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						GAACTCCCAAGAATGACACTG	0.313																																																	0								ENSG00000182050						91	79	83					12																	86383241		2203	4299	6502	MGAT4C	SO:0001583	missense	0			-	HGNC		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.84C>A	12.37:g.86383241G>T	ENSP00000474896:p.Phe28Leu	Somatic	0	46	0		0.664348379555697	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP							pfam_Glyco_transf_54,superfamily_LSM_dom	p.F57L	ENST00000604798.1	37	c.171	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426896	0.43020	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.41758	1.62;1.58;1.62;1.62;1.62;0.99	5.69	1.84	0.25277	.	0.055996	0.64402	D	0.000001	T	0.23492	0.0568	L	0.32530	0.975	0.38571	D	0.949953	P;B	0.37441	0.595;0.063	B;B	0.31016	0.123;0.023	T	0.10917	-1.0609	10	0.10377	T	0.69	-15.826	9.7365	0.40390	0.339:0.0:0.661:0.0	.	57;28	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	L	28;57;28;28;28;28;28;28	ENSP00000331664:F28L;ENSP00000376900:F57L;ENSP00000449022:F28L;ENSP00000446647:F28L;ENSP00000447253:F28L;ENSP00000449172:F28L	ENSP00000331664:F28L	F	-	3	2	MGAT4C	84907372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	0.331000	0.23511	0.655000	0.94253	TTC	-	superfamily_LSM_dom		0.313	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	protein_coding	OTTHUMT00000406212.2	G	NM_013244	-		86383241	-1	no_errors	ENST00000393205	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86383241	G	T	86383241	3	4	202	1	0	0	0	0	1	0	0	0	9549	933	33	3	1364	3	MGAT4C	12	86383241	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	8049135	86383241	47468654	51	16005											
ATP2B1	490	genome.wustl.edu	37	chr12	90028611	90028611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacatgatctgattcaccaGtcaatgagctttcatcaatt	5	9	5	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:90028611G>A	ENST00000428670.3	-	5	1187	c.731C>T	c.(730-732)aCt>aTt	p.T244I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.T244I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.T244I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.T244I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	244					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGATTCACCAGTCAATGAGCT	0.323																																																	0								ENSG00000070961						57	56	57					12																	90028611		2203	4299	6502	ATP2B1	SO:0001583	missense	0			-	HGNC	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.731C>T	12.37:g.90028611G>A	ENSP00000392043:p.Thr244Ile	Somatic	0	25	0		0.664348379555697	31	34.04	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	62	34.38	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.T244I	ENST00000428670.3	37	c.731	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913527	0.92178	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.99072	1.0834	9	.	.	.	-8.431	20.1615	0.98135	0.0:0.0:1.0:0.0	.	244;244	P20020-3;P20020-2	.;.	I	244	ENSP00000261173:T244I;ENSP00000343599:T244I;ENSP00000352054:T244I;ENSP00000392043:T244I	.	T	-	2	0	ATP2B1	88552742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	ACT	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase		0.323	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	protein_coding	OTTHUMT00000406653.1	G	NM_001682	-		90028611	-1	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90028611	G	A	90028611	3	1	202	1	0	0	0	0	1	0	0	0	1139	1029	36	2	3157	2	ATP2B1	12	90028611	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	3645370	90028611	43823284	52	16006											
RBM19	9904	genome.wustl.edu	37	chr12	114384227	114384227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgatcccagggcactggcAtcctcgctggcttccttctt	10	15	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:114384227A>G	ENST00000545145.2	-	12	1539	c.1461T>C	c.(1459-1461)gaT>gaC	p.D487D	RBM19_ENST00000392561.3_Silent_p.D487D|RBM19_ENST00000261741.5_Silent_p.D487D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	487					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGCACTGGCATCCTCGCTGG	0.557																																																	0								ENSG00000122965						148	114	125					12																	114384227		2203	4300	6503	RBM19	SO:0001819	synonymous_variant	0			-	HGNC	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1461T>C	12.37:g.114384227A>G		Somatic	0	48	0		0.664348379555697	26	16.13	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.D487	ENST00000545145.2	37	c.1461	CCDS9172.1	12																																																																																			-	NULL		0.557	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	protein_coding	OTTHUMT00000405251.1	A	NM_016196	-		114384227	-1	no_errors	ENST00000261741	ensembl	human	known	74_37	silent	SNP	0.000	G	G	114384227	A	G	114384227	2	3	202	1	0	0	0	0	0	0	0	1	13129	214	8	5		5	RBM19	12	114384227	Silent	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	24355616	114384227	19467668	53	16007											
PIWIL1	9271	genome.wustl.edu	37	chr12	130834413	130834413	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccctaggtataacaataaGacatacagagtggatgatat	8	6	0	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr12:130834413G>T	ENST00000245255.3	+	9	1217	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	315	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATAACAATAAGACATACAGAG	0.393																																																	0								ENSG00000125207						81	82	82					12																	130834413		2203	4300	6503	PIWIL1	SO:0001583	missense	0			-	HGNC	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.945G>T	12.37:g.130834413G>T	ENSP00000245255:p.Lys315Asn	Somatic	0	68	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	72	30.77	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.K315N	ENST00000245255.3	37	c.945	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420552	0.42918	.	.	ENSG00000125207	ENST00000245255	T	0.13089	2.62	5.57	-5.04	0.02964	Argonaute/Dicer protein, PAZ (4);	0.090107	0.85682	D	0.000000	T	0.27900	0.0687	M	0.67569	2.06	0.53688	D	0.999974	D;P	0.58268	0.982;0.947	D;P	0.66196	0.942;0.633	T	0.06338	-1.0832	10	0.49607	T	0.09	-21.4515	15.3716	0.74570	0.3395:0.0:0.6605:0.0	.	315;315	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	315	ENSP00000245255:K315N	ENSP00000245255:K315N	K	+	3	2	PIWIL1	129400366	0.999000	0.42202	0.680000	0.29994	0.075000	0.17131	0.622000	0.24433	-0.791000	0.04486	-1.166000	0.01754	AAG	-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	protein_coding	OTTHUMT00000399510.1	G		-		130834413	1	no_errors	ENST00000245255	ensembl	human	known	74_37	missense	SNP	0.843	T	T	130834413	G	T	130834413	3	4	202	1	0	0	0	0	1	0	0	0	11959	933	33	3	975	3	PIWIL1	12	130834413	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	16450186	130834413	3017482	54	16008											
PCDH17	27253	genome.wustl.edu	37	chr13	58206991	58206991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatgccaagtgccagcTgtccctcgaggtgttcgcca	10	15	0	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr13:58206991T>C	ENST00000377918.3	+	1	337	c.311T>C	c.(310-312)cTg>cCg	p.L104P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	104	Cadherin 1. {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(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGTGCCAGCTGTCCCTCGAG	0.612																																					Melanoma(72;952 1291 1619 12849 33676)												0								ENSG00000118946						80	64	70					13																	58206991		2203	4300	6503	PCDH17	SO:0001583	missense	0			-	HGNC	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.311T>C	13.37:g.58206991T>C	ENSP00000367151:p.Leu104Pro	Somatic	0	22	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L104P	ENST00000377918.3	37	c.311	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741635	0.69304	.	.	ENSG00000118946	ENST00000377918	T	0.46819	0.86	5.54	5.54	0.83059	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.983;0.99	T	0.69807	-0.5045	8	.	.	.	.	15.8453	0.78883	0.0:0.0:0.0:1.0	.	104;104	O14917-2;O14917	.;PCD17_HUMAN	P	104	ENSP00000367151:L104P	.	L	+	2	0	PCDH17	57104992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.093000	0.71422	2.330000	0.79161	0.528000	0.53228	CTG	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	protein_coding	OTTHUMT00000045139.1	T	NM_001040429	-		58206991	1	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58206991	T	C	58206991	3	2	202	1	0	0	0	0	1	0	0	0	11514	1580	55	5	313	5	PCDH17	13	58206991	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		58206991	56962887	55	16009											
GAS6	2621	genome.wustl.edu	37	chr13	114549526	114549526	+	Frame_Shift_Del	DEL	T	T	-													cgcaggtggcgaagcctgagTttttggtgtacggagaccca							TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr13:114549526delT	ENST00000327773.6	-	4	463	c.317delA	c.(316-318)aacfs	p.N106fs	GAS6_ENST00000355761.4_Frame_Shift_Del_p.N52fs|GAS6_ENST00000357389.3_Frame_Shift_Del_p.N106fs|GAS6_ENST00000476291.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	106					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GAAGCCTGAGTTTTTGGTGTA	0.542																																																	0								ENSG00000183087						168	147	154					13																	114549526		2203	4300	6503	GAS6	SO:0001589	frameshift_variant	0				HGNC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.317delA	13.37:g.114549526delT	ENSP00000331831:p.Asn106fs	Somatic	0	28	0		0.664348379555697	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Del	DEL							pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.N106fs	ENST00000327773.6	37	c.317	CCDS45072.1	13																																																																																			-	superfamily_GLA_domain		0.542	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	protein_coding	OTTHUMT00000045946.2	T	NM_000820			114549526	-1	no_errors	ENST00000357389	ensembl	human	known	74_37	frame_shift_del	DEL	0.003	-	-	114549526	T	-	114549526	7	5	202	1	0	1	0	1	0	0	0	0	6251	1725	60	0	1767	0	GAS6	13	114549526	Frame_Shift_Del	DEL	T	TCGA-QQ-A5VC-01A-31D-A32I-09	56342535	114549526	620352	56	16010											
GLYR1	84656	genome.wustl.edu	37	chr16	4861209	4861209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggagtcggatggttgaCcgcatcacccagcgcaatgg	14	11	1	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr16:4861209C>T	ENST00000321919.9	-	15	1625	c.1549G>A	c.(1549-1551)Gtc>Atc	p.V517I	GLYR1_ENST00000381983.3_Missense_Mutation_p.V500I|GLYR1_ENST00000591451.1_Missense_Mutation_p.V511I|GLYR1_ENST00000436648.5_Missense_Mutation_p.V436I	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	517					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GGATGGTTGACCGCATCACCC	0.463																																																	0								ENSG00000140632						133	125	128					16																	4861209		2197	4300	6497	GLYR1	SO:0001583	missense	0			-	HGNC	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1549G>A	16.37:g.4861209C>T	ENSP00000322716:p.Val517Ile	Somatic	0	47	0		0.664348379555697	60	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP							pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom	p.V517I	ENST00000321919.9	37	c.1549	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285278	0.40394	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.30714	1.52;1.52;1.52	5.72	5.72	0.89469	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.055471	0.64402	D	0.000001	T	0.35682	0.0940	M	0.64997	1.995	0.58432	D	0.999994	B;B;B;B	0.21520	0.003;0.024;0.01;0.057	B;B;B;B	0.16289	0.005;0.012;0.007;0.015	T	0.07328	-1.0778	10	0.45353	T	0.12	-22.4547	18.6366	0.91380	0.0:1.0:0.0:0.0	.	436;511;500;517	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	I	517;500;436	ENSP00000322716:V517I;ENSP00000371413:V500I;ENSP00000390276:V436I	ENSP00000322716:V517I	V	-	1	0	GLYR1	4801210	1.000000	0.71417	0.991000	0.47740	0.111000	0.19643	5.948000	0.70249	2.700000	0.92200	0.561000	0.74099	GTC	-	superfamily_6-PGluconate_DH_C-like		0.463	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	protein_coding	OTTHUMT00000251717.2	C	NM_032569	-		4861209	-1	no_errors	ENST00000321919	ensembl	human	known	74_37	missense	SNP	1.000	T	T	4861209	C	T	4861209	3	4	202	1	0	0	0	0	1	0	0	0	6485	507	18	2	120	2	GLYR1	16	4861209	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		4861209	85493544	57	16011											
CDH5	1003	genome.wustl.edu	37	chr16	66423366	66423366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccggggggactcgggcaCggccaccgtgctggtcactc	15	16	1	0	rs543649916		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr16:66423366C>T	ENST00000341529.3	+	5	870	c.722C>T	c.(721-723)aCg>aTg	p.T241M	CDH5_ENST00000563425.2_Missense_Mutation_p.T241M	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GACTCGGGCACGGCCACCGTG	0.597													C|||	1	0.000199681	0	0	5008	,	,		16787	0.001		0	False		,,,				2504	0																0								ENSG00000179776						63	62	63					16																	66423366		2202	4300	6502	CDH5	SO:0001583	missense	0			-	HGNC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.722C>T	16.37:g.66423366C>T	ENSP00000344115:p.Thr241Met	Somatic	0	38	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	7	73.08	Q4VAI5|Q4VAI6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T241M	ENST00000341529.3	37	c.722	CCDS10804.1	16	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860284	0.91433	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.57107	0.42	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.78413	0.4279	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82034	-0.0657	9	0.87932	D	0	.	18.8133	0.92068	0.0:1.0:0.0:0.0	.	241	P33151	CADH5_HUMAN	M	241	ENSP00000344115:T241M	ENSP00000344115:T241M	T	+	2	0	CDH5	64980867	1.000000	0.71417	0.985000	0.45067	0.818000	0.46254	5.204000	0.65180	2.692000	0.91855	0.655000	0.94253	ACG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.597	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	protein_coding	OTTHUMT00000268767.1	C	NM_001795	-		66423366	1	no_errors	ENST00000341529	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66423366	C	T	66423366	3	4	202	1	0	0	0	0	1	0	0	0	3115	536	19	1	736	1	CDH5	16	66423366	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	61562157	66423366	23931387	58	16012											
MYH10	4628	genome.wustl.edu	37	chr17	8383788	8383788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcctcttccagctcctCctccagctgtgcgatccgag	8	18	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr17:8383788C>T	ENST00000269243.4	-	37	5365	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1759K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1764K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1774K|NDEL1_ENST00000299734.7_Missense_Mutation_p.S317F	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1743					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGCTCCTCCTCCAGCTGT	0.642																																																	0								ENSG00000133026						85	58	67					17																	8383788		2203	4300	6503	MYH10	SO:0001583	missense	0			-	HGNC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5227G>A	17.37:g.8383788C>T	ENSP00000269243:p.Glu1743Lys	Somatic	0	27	0		0.664348379555697	2	80	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1764K	ENST00000269243.4	37	c.5290	CCDS11144.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.654295|5.654295	0.96724|0.96724	.|.	.|.	ENSG00000133026|ENSG00000166579	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980|ENST00000299734	D;T;T;T|.	0.83755|.	-1.76;-1.15;-1.15;-1.15|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Myosin tail (1);|.	.|1.850330	.|0.02146	.|N	.|0.057635	T|T	0.77935|0.77935	0.4205|0.4205	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40000|.	0.698;0.648;0.698|.	P;P;P|.	0.50934|.	0.654;0.523;0.654|.	T|T	0.62358|0.62358	-0.6871|-0.6871	9|7	0.44086|0.27082	T|T	0.13|0.32	.|.	18.4224|18.4224	0.90595|0.90595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1752;1774;1743|.	B2RWP9;F8VTL3;P35580|.	.;.;MYH10_HUMAN|.	K|F	1743;1774;1764;1759|317	ENSP00000269243:E1743K;ENSP00000353590:E1774K;ENSP00000379539:E1764K;ENSP00000369315:E1759K|.	ENSP00000269243:E1743K|ENSP00000299734:S317F	E|S	-|+	1|2	0|0	MYH10|NDEL1	8324513|8324513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.609000|7.609000	0.82925|0.82925	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GAG|TCC	-	pfam_Myosin_tail		0.642	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	protein_coding	OTTHUMT00000227001.2	C		-		8383788	-1	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8383788	C	T	8383788	3	4	202	1	0	0	0	0	1	0	0	0	10032	864	30	2	723	2	MYH10	17	8383788	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		8383788	72811422	59	16013											
NF1	4763	genome.wustl.edu	37	chr17	29667610	29667610	+	Frame_Shift_Del	DEL	C	C	-													tgtattcagcaggtaccgcaCttcttgaacaaaacctgcat					rs367734104		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr17:29667610delC	ENST00000358273.4	+	47	7392	c.7009delC	c.(7009-7011)cttfs	p.L2338fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.L131fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.L2317fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.L51fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					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.?(3)	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)		AGGTACCGCACTTCTTGAACA	0.443			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000196712						116	103	108					17																	29667610		2203	4300	6503	NF1	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		HGNC		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.7009delC	17.37:g.29667610delC	ENSP00000351015:p.Leu2338fs	Somatic	0	45	0		0.664348379555697	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L2337fs	ENST00000358273.4	37	c.7009	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267			29667610	1	no_errors	ENST00000358273	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	29667610	C	-	29667610	7	5	202	1	0	1	0	1	0	0	0	0	10358	565	20	0	7256	0	NF1	17	29667610	Frame_Shift_Del	DEL	C	TCGA-QQ-A5VC-01A-31D-A32I-09	21283822	29667610	51527600	60	16014	394	2									
NF1	4763	genome.wustl.edu	37	chr17	29667612	29667632	+	In_Frame_Del	DEL	TCTTGAACAAAACCTGCATAC	TCTTGAACAAAACCTGCATAC	-													tattcagcaggtaccgcactTcttgaacaaaacctgcatac					rs371581213		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	TCTTGAACAAAACCTGCATAC	TCTTGAACAAAACCTGCATAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr17:29667612_29667632delTCTTGAACAAAACCTGCATAC	ENST00000358273.4	+	47	7394_7414	c.7011_7031delTCTTGAACAAAACCTGCATAC	c.(7009-7032)cttcttgaacaaaacctgcatact>ctt	p.LEQNLHT2338del	NF1_ENST00000444181.2_In_Frame_Del_p.LEQNLHT131del|NF1_ENST00000356175.3_In_Frame_Del_p.LEQNLHT2317del|NF1_ENST00000417592.2_In_Frame_Del_p.LEQNLHT51del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2338					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.?(3)|p.L2338H(2)|p.L2338fs*8(1)|p.N2341fs*5(1)	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)		GTACCGCACTTCTTGAACAAAACCTGCATACTTTAGATAGT	0.434			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	15	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)|large_intestine(1)	GRCh37	CM994667	NF1	M		ENSG00000196712																																			NF1	SO:0001651	inframe_deletion	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		HGNC		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.7011_7031delTCTTGAACAAAACCTGCATAC	17.37:g.29667612_29667632delTCTTGAACAAAACCTGCATAC	ENSP00000351015:p.Leu2338_Thr2344del	Somatic					0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.EQNLHTL2339in_frame_del	ENST00000358273.4	37	c.7011_7031	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.434	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	TCTTGAACAAAACCTGCATAC	NM_000267			29667632	1	no_errors	ENST00000358273	ensembl	human	known	74_37	in_frame_del	DEL	0.993:1.000:1.000:0.436:1.000:1.000:0.970:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000	-	-	29667632	TCTTGAACAAAACCTGCATAC	-	29667612	7	5	202	1	0	1	0	1	0	0	0	0	10358	1770	62	0	7258	0	NF1	17	29667612	In_Frame_Del	DEL	TCTTGAACAAAACCTGCATAC	TCGA-QQ-A5VC-01A-31D-A32I-09	2	29667612	51527598	61	16015	394	2									
EXOC7	23265	genome.wustl.edu	37	chr17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggttcttggtgaagggcaCgctgccaaacctgaggaggc	16	10	1	2			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr17:74079821C>T	ENST00000335146.7	-	20	2169	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000607838.1_Missense_Mutation_p.V678M			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	706					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612																																																	0								ENSG00000182473						119	92	101					17																	74079821		2203	4300	6503	EXOC7	SO:0001583	missense	0			-	HGNC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2116G>A	17.37:g.74079821C>T	ENSP00000334100:p.Val706Met	Somatic	0	28	0		0.664348379555697	134	32.5	65	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP							pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.V706M	ENST00000335146.7	37	c.2116	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	c	11.03	1.518467	0.27211	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.67	4.67	0.58626	Cullin repeat-like-containing domain (1);	0.064517	0.64402	D	0.000009	T	0.73273	0.3566	L	0.46741	1.465	0.80722	D	1	P;P;D;B;P;P;P	0.67145	0.565;0.57;0.996;0.337;0.865;0.871;0.913	B;B;D;B;B;B;B	0.69479	0.132;0.099;0.964;0.067;0.155;0.31;0.303	T	0.74639	-0.3598	9	0.51188	T	0.08	-21.454	17.759	0.88459	0.0:1.0:0.0:0.0	.	647;678;627;592;706;624;655	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	M	624;544;678;706;655;592;647	.	ENSP00000333806:V624M	V	-	1	0	EXOC7	71591416	1.000000	0.71417	0.996000	0.52242	0.073000	0.16967	3.563000	0.53784	2.427000	0.82271	0.556000	0.70494	GTG	-	pfam_Exo70,superfamily_Cullin_repeat-like_dom		0.612	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	protein_coding	OTTHUMT00000319768.2	C	NM_015219	-		74079821	-1	no_errors	ENST00000335146	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74079821	C	T	74079821	3	4	202	1	0	0	0	0	1	0	0	0	5312	536	19	1	95	1	EXOC7	17	74079821	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	44412209	74079821	7115389	62	16016											
NPTX1	4884	genome.wustl.edu	37	chr17	78447139	78447139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacatgcagacagtgAaggcgtacatctctggcagg	13	10	1	3			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr17:78447139A>G	ENST00000306773.4	-	3	915	c.758T>C	c.(757-759)tTc>tCc	p.F253S	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	253	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCAGACAGTGAAGGCGTACAT	0.582																																																	0								ENSG00000171246						241	206	218					17																	78447139		2203	4300	6503	NPTX1	SO:0001583	missense	0			-	HGNC	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.758T>C	17.37:g.78447139A>G	ENSP00000307549:p.Phe253Ser	Somatic	0	44	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	B3KXH3|Q5FWE6	Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.F253S	ENST00000306773.4	37	c.758	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642771	0.87859	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.68479	-0.33	4.17	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.047750	0.85682	D	0.000000	T	0.75057	0.3798	H	0.94345	3.525	0.80722	D	1	P	0.35793	0.521	B	0.35182	0.197	T	0.81629	-0.0846	10	0.87932	D	0	-23.9425	13.0275	0.58823	1.0:0.0:0.0:0.0	.	253	Q15818	NPTX1_HUMAN	S	253;15	ENSP00000307549:F253S	ENSP00000307549:F253S	F	-	2	0	NPTX1	76061734	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.959000	0.93110	1.729000	0.51567	0.418000	0.28097	TTC	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.582	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	protein_coding	OTTHUMT00000438051.1	A		-		78447139	-1	no_errors	ENST00000306773	ensembl	human	known	74_37	missense	SNP	1.000	G	G	78447139	A	G	78447139	3	3	202	1	0	0	0	0	1	0	0	0	10604	246	9	5	552	5	NPTX1	17	78447139	Missense_Mutation	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	4367318	78447139	2748071	63	16017											
SS18	6760	genome.wustl.edu	37	chr18	23612405	23612405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggtggctgtggtggTccaggctgtgttggtctata	18	6	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr18:23612405T>C	ENST00000415083.2	-	10	1243	c.1188A>G	c.(1186-1188)ggA>ggG	p.G396G	SS18_ENST00000269137.7_Silent_p.G365G|SS18_ENST00000539849.1_Silent_p.G314G|SS18_ENST00000542743.1_Silent_p.G313G|SS18_ENST00000542420.2_Silent_p.G373G|SS18_ENST00000545952.1_Silent_p.G313G	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	396	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTGTGGTGGTCCAGGCTGTG	0.507			T	"SSX1,  SSX2"	synovial sarcoma																																			Dom	yes		18	18q11.2	6760	"synovial sarcoma translocation, chromosome 18"		M	0								ENSG00000141380						224	190	201					18																	23612405		2203	4300	6503	SS18	SO:0001819	synonymous_variant	0			-	HGNC	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1188A>G	18.37:g.23612405T>C		Somatic	0	105	0		0.664348379555697	59	32.95	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	55	34.52	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP							pfam_SS18_fam	p.G396	ENST00000415083.2	37	c.1188	CCDS32807.1	18																																																																																			-	NULL		0.507	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	protein_coding	OTTHUMT00000446226.1	T		-		23612405	-1	no_errors	ENST00000415083	ensembl	human	known	74_37	silent	SNP	1.000	C	C	23612405	T	C	23612405	2	2	202	1	0	0	0	0	0	0	0	1	15182	1654	58	5		5	SS18	18	23612405	Silent	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		23612405	54464843	64	16018											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.664348379555697	52	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	202	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-QQ-A5VC-01A-31D-A32I-09		41173893	17955090	65	16019											
KLK13	26085	genome.wustl.edu	37	chr19	51563083	51563083	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtgtgggtgcataccCtgggggctggtggtggtgcc	18	10	0	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr19:51563083C>A	ENST00000595793.1	-	3	549	c.507G>T	c.(505-507)caG>caT	p.Q169H	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.Q169H	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGTGCATACCCTGGGGGCTGG	0.602																																																	0								ENSG00000167759						36	36	36					19																	51563083		2203	4300	6503	KLK13	SO:0001630	splice_region_variant	0			-	HGNC		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.508+1G>T	19.37:g.51563083C>A		Somatic	0	53	0		0.664348379555697	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	52	34.18	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q169H	ENST00000595793.1	37	c.507	CCDS12822.1	19	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753226	0.31046	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.91	3.91	0.45181	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000745	T	0.43055	0.1230	N	0.20610	0.595	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.16289	0.015;0.015	T	0.43637	-0.9379	9	0.59425	D	0.04	.	13.7712	0.63026	0.0:1.0:0.0:0.0	.	169;169	B5BUM9;Q9UKR3	.;KLK13_HUMAN	H	169	.	ENSP00000156476:Q169H	Q	-	3	2	KLK13	56254895	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	1.205000	0.32308	2.180000	0.69256	0.655000	0.94253	CAG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.602	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	protein_coding	OTTHUMT00000464298.2	C	NM_015596	-	Missense_Mutation	51563083	-1	no_errors	ENST00000595793	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51563083	C	A	51563083	5	1	202	1	0	0	0	0	0	0	1	0	8403	695	24	3	338	3	KLK13	19	51563083	Splice_Site	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	10389190	51563083	7565900	66	16020											
NLRP11	204801	genome.wustl.edu	37	chr19	56320357	56320357	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaggcatatggtgcGtcaacttttccgggtcacgg	11	9	2	0	rs374796362		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr19:56320357G>C	ENST00000589093.1	-	3	1712	c.1619C>G	c.(1618-1620)aCg>aGg	p.T540R	NLRP11_ENST00000443188.1_Missense_Mutation_p.T540R|NLRP11_ENST00000592953.1_Missense_Mutation_p.T441R|NLRP11_ENST00000589824.2_Missense_Mutation_p.T540R|NLRP11_ENST00000360133.3_Missense_Mutation_p.T540R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							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)	p.T540M(2)		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)		CATATGGTGCGTCAACTTTTC	0.448																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)						ENSG00000179873						163	151	155					19																	56320357		2203	4300	6503	NLRP11	SO:0001583	missense	0			-	HGNC	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.1619C>G	19.37:g.56320357G>C	ENSP00000466285:p.Thr540Arg	Somatic	0	18	0		0.664348379555697	4	33.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T540R	ENST00000589093.1	37	c.1619	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504532	0.04261	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74002	-0.8;-0.74	1.99	-3.99	0.04069	.	.	.	.	.	T	0.48187	0.1486	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	9	0.13470	T	0.59	.	0.2614	0.00219	0.3264:0.2693:0.1804:0.224	.	540;540	P59045;P59045-2	NAL11_HUMAN;.	R	540	ENSP00000409898:T540R;ENSP00000353251:T540R	ENSP00000353251:T540R	T	-	2	0	NLRP11	61012169	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.189000	0.00277	-1.949000	0.01031	-1.153000	0.01818	ACG	-	NULL		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	protein_coding	OTTHUMT00000453657.1	G	NM_145007	-		56320357	-1	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	SNP	0.000	C	C	56320357	G	C	56320357	3	2	202	1	0	0	0	0	1	0	0	0	10475	1145	40	4	1514	4	NLRP11	19	56320357	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	4757274	56320357	2808626	67	16021											
ZNF671	79891	genome.wustl.edu	37	chr19	58238816	58238816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcggacagctgccgggagCggcaggcgtctcgatcgggg	20	12	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr19:58238816C>T	ENST00000317398.6	-	1	176	c.81G>A	c.(79-81)ccG>ccA	p.P27P	ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Silent_p.P27P|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTGCCGGGAGCGGCAGGCGTC	0.682																																																	0								ENSG00000083814						26	29	28					19																	58238816		2199	4294	6493	ZNF671	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.81G>A	19.37:g.58238816C>T		Somatic	0	74	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	30	45.61	A6NF07|Q9H5E9	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P27	ENST00000317398.6	37	c.81	CCDS12961.1	19																																																																																			-	NULL		0.682	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	protein_coding	OTTHUMT00000466817.1	C	NM_024833	-		58238816	-1	no_errors	ENST00000317398	ensembl	human	known	74_37	silent	SNP	0.000	T	T	58238816	C	T	58238816	2	4	202	1	0	0	0	0	0	0	0	1	18085	755	27	1		1	ZNF671	19	58238816	Silent	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	1918459	58238816	890167	68	16022											
ASXL1	171023	genome.wustl.edu	37	chr20	31022346	31022346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccggggttggactggcGccaggaccctcgcagacatt	14	14	0	1	rs372418554		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr20:31022346G>A	ENST00000375687.4	+	13	2255	c.1831G>A	c.(1831-1833)Gcc>Acc	p.A611T	ASXL1_ENST00000306058.5_Missense_Mutation_p.A606T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	611	Interaction with NCOA1. {ECO:0000250}.				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.Q592fs*5(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						TTGGACTGGCGCCAGGACCCT	0.632			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000171456	G	THR/ALA	0,4406		0,0,2203	28	30	29		1831	3.5	0.8	20		29	1,8599		0,1,4299	no	missense	ASXL1	NM_015338.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/1542	31022346	1,13005	2203	4300	6503	ASXL1	SO:0001583	missense	0			-	HGNC	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.1831G>A	20.37:g.31022346G>A	ENSP00000364839:p.Ala611Thr	Somatic	0	77	0		0.664348379555697	24	22.58	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	84	27.59	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP							NULL	p.A611T	ENST00000375687.4	37	c.1831	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744085	0.49151	0.0	1.16E-4	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.56941	0.43;0.43	5.41	3.45	0.39498	.	0.109289	0.64402	D	0.000008	T	0.61489	0.2351	M	0.65975	2.015	0.39708	D	0.971284	B;D	0.71674	0.445;0.998	B;P	0.56216	0.022;0.794	T	0.64271	-0.6447	10	0.52906	T	0.07	-4.905	10.3193	0.43756	0.0718:0.4059:0.5222:0.0	.	606;611	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	T	611;611;611;550;606	ENSP00000364839:A611T;ENSP00000305119:A606T	ENSP00000305119:A606T	A	+	1	0	ASXL1	30486007	0.998000	0.40836	0.843000	0.33291	0.961000	0.63080	2.702000	0.47102	0.835000	0.34877	0.561000	0.74099	GCC	-	NULL		0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	G	NM_015338	-		31022346	1	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	SNP	0.406	A	A	31022346	G	A	31022346	3	1	202	1	0	0	0	0	1	0	0	0	1066	1087	38	1	1887	1	ASXL1	20	31022346	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09		31022346	32003174	69	16023											
RIMBP3	85376	genome.wustl.edu	37	chr22	20458271	20458271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtagacccaggtgaTgttggctgatgtggctgtga	16	7	0	4			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr22:20458271T>C	ENST00000426804.1	-	1	3515	c.3031A>G	c.(3031-3033)Atc>Gtc	p.I1011V	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1011	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACCCAGGTGATGTTGGCTGAT	0.602																																																	0								ENSG00000196622						5	8	7					22																	20458271		1603	3705	5308	RIMBP3	SO:0001583	missense	0			-	HGNC	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3031A>G	22.37:g.20458271T>C	ENSP00000391564:p.Ile1011Val	Somatic	0	61	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.I1011V	ENST00000426804.1	37	c.3031	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	T	0.369	-0.934896	0.02340	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.49432	0.78	3.56	1.38	0.22167	Fibronectin, type III (2);	0.383974	0.24557	N	0.037513	T	0.28863	0.0716	N	0.25144	0.715	0.09310	N	1	B	0.18013	0.025	B	0.22152	0.038	T	0.14980	-1.0453	10	0.30854	T	0.27	-9.3439	6.6067	0.22729	0.0:0.2102:0.0:0.7898	.	917	Q9UFD9	RIM3A_HUMAN	V	917;1011	ENSP00000391564:I1011V	ENSP00000347318:I917V	I	-	1	0	RIMBP3	18838271	0.928000	0.31464	0.004000	0.12327	0.060000	0.15804	0.978000	0.29488	0.116000	0.18110	0.327000	0.21459	ATC	-	superfamily_Fibronectin_type3		0.602	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	protein_coding	OTTHUMT00000318945.2	T	NM_015672	-		20458271	-1	no_errors	ENST00000426804	ensembl	human	known	74_37	missense	SNP	0.007	C	C	20458271	T	C	20458271	3	2	202	1	0	0	0	0	1	0	0	0	13372	1464	51	5	1892	5	RIMBP3	22	20458271	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09		20458271	30846295	70	16024											
SAPS2	9701	genome.wustl.edu	37	chr22	50857777	50857777	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctctgtgtgtgtccagcaGgcaggactgtgtggagcagc	15	10	1	0			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chr22:50857777G>T	ENST00000216061.5	+	9	1101		c.e9-1		PPP6R2_ENST00000395741.3_Missense_Mutation_p.R245M|PPP6R2_ENST00000359139.3_Splice_Site|PPP6R2_ENST00000395744.3_Splice_Site			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGTCCAGCAGGCAGGACTGT	0.567																																																	0								ENSG00000100239						105	79	88					22																	50857777		2203	4300	6503	PPP6R2	SO:0001630	splice_region_variant	0			-	HGNC	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.732-1G>T	22.37:g.50857777G>T		Somatic	0	32	0		0.664348379555697	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Splice_Site	SNP							-	e6-1	ENST00000216061.5	37	c.732-1		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.608493|4.608493	0.87258|0.87258	.|.	.|.	ENSG00000100239|ENSG00000100239	ENST00000359139;ENST00000395744;ENST00000216061|ENST00000395741	.|T	.|0.32023	.|1.47	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58750	.|0.2144	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.61997	.|-0.6947	.|8	.|0.87932	.|D	.|0	.|.	17.1792|17.1792	0.86850|0.86850	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|245	.|O75170-3	.|.	.|M	-1|245	.|ENSP00000379090:R245M	.|ENSP00000379090:R245M	.|R	+|+	.|2	.|0	PPP6R2|PPP6R2	49204643|49204643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	9.549000|9.549000	0.98106|0.98106	2.657000|2.657000	0.90304|0.90304	0.549000|0.549000	0.68633|0.68633	.|AGG	-	-		0.567	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	protein_coding	OTTHUMT00000316809.1	G	NM_014678	-	Intron	50857777	1	no_errors	ENST00000216061	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	50857777	G	T	50857777	5	4	202	1	0	0	0	0	0	0	1	0	13845	1014	35	3	753	3	SAPS2	22	50857777	Splice_Site	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	30399506	50857777	446789	71	16025											
KDM5C	8242	genome.wustl.edu	37	chrX	53223903	53223903	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccttctccttctgttccccCtccttgaaggccacgatctg	6	17	3	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chrX:53223903C>G	ENST00000375401.3	-	23	3988	c.3456G>C	c.(3454-3456)gaG>gaC	p.E1152D	KDM5C_ENST00000375383.3_Missense_Mutation_p.E1111D|KDM5C_ENST00000452825.3_Missense_Mutation_p.E1085D|KDM5C_ENST00000404049.3_Missense_Mutation_p.E1151D|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1152D	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1152					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTGTTCCCCCTCCTTGAAGG	0.612			"N, F, S"		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						179	125	143					X																	53223903		2203	4300	6503	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3456G>C	X.37:g.53223903C>G	ENSP00000364550:p.Glu1152Asp	Somatic	0	29	0		0.664348379555697	81	51.2	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	14	51.72	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1152D	ENST00000375401.3	37	c.3456	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	13.64	2.298000	0.40694	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87103	-2.21;-1.92;-1.92;-1.92;-2.06	4.61	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	L	0.54323	1.7	0.36644	D	0.877025	P;P;P	0.37636	0.603;0.468;0.468	B;B;B	0.38842	0.283;0.147;0.147	T	0.80768	-0.1235	10	0.41790	T	0.15	-19.4892	6.655	0.22982	0.0:0.7749:0.0:0.2251	.	1085;1151;1152	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	D	1085;1152;1151;1152;1111	ENSP00000445176:E1085D;ENSP00000364550:E1152D;ENSP00000385394:E1151D;ENSP00000364528:E1152D;ENSP00000364532:E1111D	ENSP00000364528:E1152D	E	-	3	2	KDM5C	53240628	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.606000	0.24194	0.762000	0.33152	0.525000	0.51046	GAG	-	NULL		0.612	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	C	NM_004187	-		53223903	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	1.000	G	G	53223903	C	G	53223903	3	3	202	1	0	0	0	0	1	0	0	0	8137	680	24	4	1340	4	KDM5C	23	53223903	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09		53223903	102046657	72	16026											
PFKFB1	5207	genome.wustl.edu	37	chrX	54978378	54978378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagagtcacctccgatgCggcctctgatgttgagttca	12	12	3	3	rs376959812		TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chrX:54978378C>T	ENST00000375006.3	-	8	876	c.806G>A	c.(805-807)cGc>cAc	p.R269H	PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204H|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	269	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACCTCCGATGCGGCCTCTGAT	0.582																																																	0								ENSG00000158571	C	HIS/ARG	0,3835		0,0,1632,571	117	73	88		806	4.5	1	X		88	1,6727		0,1,2427,1872	no	missense	PFKFB1	NM_002625.2	29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	269/472	54978378	1,10562	2203	4300	6503	PFKFB1	SO:0001583	missense	0			-	HGNC		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.806G>A	X.37:g.54978378C>T	ENSP00000364145:p.Arg269His	Somatic	0	24	0		0.664348379555697	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP							pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R269H	ENST00000375006.3	37	c.806	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860217	0.91433	0.0	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.74315	-0.83;-0.83	4.53	4.53	0.55603	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.86264	0.5891	H	0.95365	3.66	0.80722	D	1	D;P	0.58620	0.983;0.616	P;B	0.51079	0.658;0.096	D	0.90767	0.4669	10	0.62326	D	0.03	-12.7247	15.6194	0.76793	0.0:1.0:0.0:0.0	.	204;269	B4DUN5;P16118	.;F261_HUMAN	H	269;204	ENSP00000364145:R269H;ENSP00000444074:R204H	ENSP00000364145:R269H	R	-	2	0	PFKFB1	54995103	0.924000	0.31332	1.000000	0.80357	0.935000	0.57460	2.997000	0.49457	2.015000	0.59207	0.519000	0.50382	CGC	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin		0.582	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	protein_coding	OTTHUMT00000056847.1	C		-		54978378	-1	no_errors	ENST00000375006	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54978378	C	T	54978378	3	4	202	1	0	0	0	0	1	0	0	0	11762	768	27	1	637	1	PFKFB1	23	54978378	Missense_Mutation	SNP	C	TCGA-QQ-A5VC-01A-31D-A32I-09	1754475	54978378	100292182	73	16027											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106117042	106117042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagatccttgttcctttagGgaggaacctcagtggtcatt	10	8	2	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chrX:106117042G>T	ENST00000357242.5	+	21	3384	c.3210G>T	c.(3208-3210)agG>agT	p.R1070S	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R1064S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1070							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						GTTCCTTTAGGGAGGAACCTC	0.448																																																	0								ENSG00000133138						97	91	93					X																	106117042		2203	4300	6503	TBC1D8B	SO:0001583	missense	0			-	HGNC	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.3210G>T	X.37:g.106117042G>T	ENSP00000349781:p.Arg1070Ser	Somatic	0	56	0		0.664348379555697	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.R1070S	ENST00000357242.5	37	c.3210	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226030	0.01518	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.07567	3.18;3.18	5.62	2.46	0.29980	.	0.695030	0.14264	N	0.330614	T	0.04452	0.0122	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	10	0.09084	T	0.74	-1.1222	7.475	0.27371	0.4323:0.0:0.5677:0.0	.	1070	Q0IIM8	TBC8B_HUMAN	S	1070;1064	ENSP00000349781:R1070S;ENSP00000276175:R1064S	ENSP00000276175:R1064S	R	+	3	2	TBC1D8B	106003698	0.974000	0.33945	0.192000	0.23308	0.228000	0.25075	1.947000	0.40293	0.554000	0.29061	0.586000	0.80456	AGG	-	NULL		0.448	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	G	NM_017752	-		106117042	1	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	SNP	0.021	T	T	106117042	G	T	106117042	3	4	202	1	0	0	0	0	1	0	0	0	15633	1223	43	3	3358	3	TBC1D8B	23	106117042	Missense_Mutation	SNP	G	TCGA-QQ-A5VC-01A-31D-A32I-09	51138664	106117042	49153518	74	16028											
AIFM1	9131	genome.wustl.edu	37	chrX	129290459	129290459	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagctcctactgttgaTaagcccacaataaggactaa	7	12	0	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chrX:129290459T>A	ENST00000287295.3	-	2	455	c.225A>T	c.(223-225)ttA>ttT	p.L75F	AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	75					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)	CTACTGTTGATAAGCCCACAA	0.433																																																	0								ENSG00000156709						170	143	152					X																	129290459		2203	4300	6503	AIFM1	SO:0001583	missense	0			-	HGNC	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.225A>T	X.37:g.129290459T>A	ENSP00000287295:p.Leu75Phe	Somatic	0	59	0		0.664348379555697	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase	p.L75F	ENST00000287295.3	37	c.225	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650896	0.29336	.	.	ENSG00000156709	ENST00000287295	T	0.42900	0.96	5.5	0.576	0.17380	.	0.260161	0.36303	N	0.002666	T	0.31482	0.0798	L	0.50333	1.59	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.06917	-1.0800	10	0.46703	T	0.11	-8.3579	6.259	0.20889	0.0:0.3914:0.1387:0.47	.	75;75	Q1L6K6;O95831	.;AIFM1_HUMAN	F	75	ENSP00000287295:L75F	ENSP00000287295:L75F	L	-	3	2	AIFM1	129118140	0.974000	0.33945	0.999000	0.59377	0.986000	0.74619	-0.164000	0.09983	-0.018000	0.14079	-0.488000	0.04728	TTA	-	NULL		0.433	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	protein_coding	OTTHUMT00000058247.2	T		-		129290459	-1	no_errors	ENST00000287295	ensembl	human	known	74_37	missense	SNP	0.990	A	A	129290459	T	A	129290459	3	1	202	1	0	0	0	0	1	0	0	0	426	1403	49	5	1823	5	AIFM1	23	129290459	Missense_Mutation	SNP	T	TCGA-QQ-A5VC-01A-31D-A32I-09	23173417	129290459	25980101	75	16029											
RAP2C	57826	genome.wustl.edu	37	chrX	131351130	131351130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagttcctgcggtgtccAgaatttccagcacggagggg	14	11	1	1			TCGA-QQ-A5VC-01A-31D-A32I-09	TCGA-QQ-A5VC-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32637db-0977-496a-a037-e5d83bd5b23b	d387978b-317e-41be-bf28-99e243e7d023	g.chrX:131351130A>G	ENST00000342983.2	-	2	913	c.167T>C	c.(166-168)cTg>cCg	p.L56P	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.L56P|RAP2C-AS1_ENST00000441399.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	56					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TGCGGTGTCCAGAATTTCCAG	0.463																																																	0								ENSG00000123728						117	112	113					X																	131351130		2203	4300	6503	RAP2C	SO:0001583	missense	0			-	HGNC	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.167T>C	X.37:g.131351130A>G	ENSP00000340274:p.Leu56Pro	Somatic	0	49	0		0.664348379555697	3	91.67	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	2	92.59	B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L56P	ENST00000342983.2	37	c.167	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	a	24.8	4.572713	0.86542	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.80738	-1.41;-1.41	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92189	0.7523	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94175	0.7427	10	0.87932	D	0	.	14.1647	0.65469	1.0:0.0:0.0:0.0	.	56	Q9Y3L5	RAP2C_HUMAN	P	56	ENSP00000340274:L56P;ENSP00000359911:L56P	ENSP00000340274:L56P	L	-	2	0	RAP2C	131178811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.165000	0.94761	1.791000	0.52520	0.409000	0.27619	CTG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.463	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	protein_coding	OTTHUMT00000058312.1	A	NM_021183	-		131351130	-1	no_errors	ENST00000342983	ensembl	human	known	74_37	missense	SNP	1.000	G	G	131351130	A	G	131351130	3	3	202	1	0	0	0	0	1	0	0	0	13050	188	7	5	392	5	RAP2C	23	131351130	Missense_Mutation	SNP	A	TCGA-QQ-A5VC-01A-31D-A32I-09	2060671	131351130	23919430	76	16030											
ARHGEF16	27237	genome.wustl.edu	37	chr1	3397100	3397100	+	Silent	SNP	G	G	A													atcaccagccgtgtggccgtGgagggcaatgtccgcaggat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:3397100G>A	ENST00000378378.4	+	15	2484	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	ARHGEF16_ENST00000413250.2_Silent_p.V397V|ARHGEF16_ENST00000378373.1_Silent_p.V405V|ARHGEF16_ENST00000378371.2_Silent_p.V405V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	693					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTGTGGCCGTGGAGGGCAATG	0.662																																																	0								ENSG00000130762						49	43	45					1																	3397100		2201	4293	6494	ARHGEF16	SO:0001819	synonymous_variant	0			-	HGNC	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.2079G>A	1.37:g.3397100G>A		Somatic	0	97	0		0.41568620468393	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	53	18.46	Q86TF0|Q99434	Silent	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V693	ENST00000378378.4	37	c.2079	CCDS46.2	1																																																																																			-	NULL		0.662	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	protein_coding	OTTHUMT00000001515.1	G	NM_014448	-		3397100	1	no_errors	ENST00000378378	ensembl	human	known	74_37	silent	SNP	1.000	A	A	3397100	G	A	3397100	2	1	203	1	0	0	0	0	0	0	0	1	899	1335	47	2		2	ARHGEF16	1	3397100	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		3397100	245853521	1	16031	395	2									
ARHGEF16	27237	genome.wustl.edu	37	chr1	3397101	3397101	+	Missense_Mutation	SNP	G	G	A													tcaccagccgtgtggccgtgGagggcaatgtccgcaggatg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:3397101G>A	ENST00000378378.4	+	15	2485	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E398K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E406K|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E406K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	694					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGTGGCCGTGGAGGGCAATGT	0.662																																																	0								ENSG00000130762						48	43	45					1																	3397101		2201	4293	6494	ARHGEF16	SO:0001583	missense	0			-	HGNC	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15515	protein-coding gene	gene with protein product	"putative neuroblastoma protein"						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.2080G>A	1.37:g.3397101G>A	ENSP00000367629:p.Glu694Lys	Somatic	0	96	0		0.41568620468393	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	Q86TF0|Q99434	Missense_Mutation	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E694K	ENST00000378378.4	37	c.2080	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564582	0.86439	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.69561	-0.08;-0.05;-0.05;-0.41	5.21	5.21	0.72293	.	0.056413	0.64402	D	0.000002	T	0.72503	0.3468	L	0.54908	1.71	0.58432	D	0.999999	P;D	0.56035	0.945;0.974	P;P	0.52957	0.459;0.714	T	0.69811	-0.5044	10	0.29301	T	0.29	-36.2096	18.7336	0.91746	0.0:0.0:1.0:0.0	.	398;694	B4DJM7;Q5VV41	.;ARHGG_HUMAN	K	694;406;406;398	ENSP00000367629:E694K;ENSP00000367624:E406K;ENSP00000367622:E406K;ENSP00000408887:E398K	ENSP00000367622:E406K	E	+	1	0	ARHGEF16	3386961	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.748000	0.68697	2.437000	0.82529	0.462000	0.41574	GAG	-	NULL		0.662	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	protein_coding	OTTHUMT00000001515.1	G	NM_014448	-		3397101	1	no_errors	ENST00000378378	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3397101	G	A	3397101	3	1	203	1	0	0	0	0	1	0	0	0	899	1175	41	2	2134	2	ARHGEF16	1	3397101	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	3397101	245853520	2	16032	395	2									
PLEKHG5	57449	genome.wustl.edu	37	chr1	6533332	6533332	+	Silent	SNP	G	G	A													cggccaaaggcgctggtgctGgggccggagctgaaaaagcc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:6533332G>A	ENST00000400915.3	-	9	1008	c.942C>T	c.(940-942)ccC>ccT	p.P314P	PLEKHG5_ENST00000377728.3_Silent_p.P258P|PLEKHG5_ENST00000377737.2_Silent_p.P258P|PLEKHG5_ENST00000377740.3_Silent_p.P335P|PLEKHG5_ENST00000537245.1_Silent_p.P337P|PLEKHG5_ENST00000544978.1_Silent_p.P258P|PLEKHG5_ENST00000340850.5_Silent_p.P258P|PLEKHG5_ENST00000535355.1_Silent_p.P327P|PLEKHG5_ENST00000377732.1_Silent_p.P295P|PLEKHG5_ENST00000377748.1_Silent_p.P335P|PLEKHG5_ENST00000400913.1_Silent_p.P258P|PLEKHG5_ENST00000377725.1_Silent_p.P258P	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	314					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)		CGCTGGTGCTGGGGCCGGAGC	0.662																																																	0								ENSG00000171680						17	22	21					1																	6533332		2197	4296	6493	PLEKHG5	SO:0001819	synonymous_variant	0			-	HGNC	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.942C>T	1.37:g.6533332G>A		Somatic	0	10	0		0.41568620468393	13	13.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P337	ENST00000400915.3	37	c.1011	CCDS41241.1	1																																																																																			-	NULL		0.662	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	G	NM_020631	-		6533332	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	silent	SNP	1.000	A	A	6533332	G	A	6533332	2	1	203	1	0	0	0	0	0	0	0	1	12075	1335	47	2		2	PLEKHG5	1	6533332	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3136231	6533332	242717289	3	16033	396	2									
PLEKHG5	57449	genome.wustl.edu	37	chr1	6533333	6533333	+	Missense_Mutation	SNP	G	G	A													ggccaaaggcgctggtgctgGggccggagctgaaaaagccg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:6533333G>A	ENST00000400915.3	-	9	1007	c.941C>T	c.(940-942)cCc>cTc	p.P314L	PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P258L|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P258L|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P335L|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P337L|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P258L|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P258L|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P327L|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P295L|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.P335L|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P258L|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P258L	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	314					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)		GCTGGTGCTGGGGCCGGAGCT	0.657																																																	0								ENSG00000171680						17	23	21					1																	6533333		2199	4295	6494	PLEKHG5	SO:0001583	missense	0			-	HGNC	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.941C>T	1.37:g.6533333G>A	ENSP00000383706:p.Pro314Leu	Somatic	0	11	0		0.41568620468393	12	14.29	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P337L	ENST00000400915.3	37	c.1010	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180865	0.38511	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.22;-0.22;-0.22;-0.22;-0.2;-0.22;-0.22;-0.23;-0.23;-0.22;-0.23;-0.23	5.24	3.37	0.38596	.	0.149829	0.45606	D	0.000349	T	0.51398	0.1672	L	0.31578	0.945	0.37726	D	0.925109	B;B;B;B;B	0.14012	0.008;0.008;0.009;0.008;0.005	B;B;B;B;B	0.13407	0.005;0.005;0.004;0.009;0.004	T	0.51164	-0.8740	10	0.33940	T	0.23	-27.2896	10.2093	0.43131	0.1633:0.0:0.8367:0.0	.	327;258;335;335;314	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	L	335;258;258;314;335;295;258;258;327;258;164;337;258	ENSP00000366977:P335L;ENSP00000344570:P258L;ENSP00000383704:P258L;ENSP00000383706:P314L;ENSP00000366969:P335L;ENSP00000366961:P295L;ENSP00000366957:P258L;ENSP00000366954:P258L;ENSP00000441445:P327L;ENSP00000366966:P258L;ENSP00000439625:P337L;ENSP00000437710:P258L	ENSP00000344570:P258L	P	-	2	0	PLEKHG5	6455920	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.412000	0.52679	1.230000	0.43646	-0.254000	0.11334	CCC	-	NULL		0.657	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	G	NM_020631	-		6533333	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6533333	G	A	6533333	3	1	203	1	0	0	0	0	1	0	0	0	12075	1232	43	2	2303	2	PLEKHG5	1	6533333	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	6533333	242717288	4	16034	396	2									
PER3	8863	genome.wustl.edu	37	chr1	7886594	7886594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaacatgcagccagcccCtttgacctcggaagaattta	8	13	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:7886594C>T	ENST00000361923.2	+	16	2163	c.1988C>T	c.(1987-1989)cCt>cTt	p.P663L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P671L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	663	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCAGCCCCTTTGACCTCG	0.468																																																	0								ENSG00000049246						60	58	58					1																	7886594		2203	4300	6503	PER3	SO:0001583	missense	0			-	HGNC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1988C>T	1.37:g.7886594C>T	ENSP00000355031:p.Pro663Leu	Somatic	0	74	0		0.41568620468393	10	41.18	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.P663L	ENST00000361923.2	37	c.1988	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987140	0.35036	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.12672	2.69;2.66	4.62	2.68	0.31781	.	0.809048	0.11240	N	0.584697	T	0.19208	0.0461	M	0.64997	1.995	0.09310	N	1	P;P;D;P	0.53885	0.92;0.938;0.963;0.92	P;B;P;P	0.48921	0.468;0.391;0.595;0.468	T	0.14699	-1.0463	10	0.59425	D	0.04	.	4.801	0.13296	0.1789:0.6407:0.0:0.1804	.	663;671;671;663	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	671;663	ENSP00000366755:P671L;ENSP00000355031:P663L	ENSP00000355031:P663L	P	+	2	0	PER3	7809181	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.102000	0.15272	0.516000	0.28340	0.655000	0.94253	CCT	-	NULL		0.468	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	protein_coding	OTTHUMT00000003607.1	C	NM_016831	-		7886594	1	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	SNP	0.001	T	T	7886594	C	T	7886594	3	4	203	1	0	0	0	0	1	0	0	0	11733	681	24	2	2050	2	PER3	1	7886594	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1353261	7886594	241364027	5	16035											
PTCHD2	57540	genome.wustl.edu	37	chr1	11590009	11590009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggacaaccacgtcattgGagacccggtacggggcatgc	15	11	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:11590009G>A	ENST00000294484.6	+	15	3233	c.3095G>A	c.(3094-3096)gGa>gAa	p.G1032E	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1032E	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1032					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACGTCATTGGAGACCCGGTA	0.617																																																	0								ENSG00000204624						65	76	73					1																	11590009		2000	4175	6175	PTCHD2	SO:0001583	missense	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3095G>A	1.37:g.11590009G>A	ENSP00000294484:p.Gly1032Glu	Somatic	0	34	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q5VTU9|Q9UJD6	Missense_Mutation	SNP							pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.G1032E	ENST00000294484.6	37	c.3095	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514361	0.64522	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90261	-2.64;-2.61	5.35	5.35	0.76521	.	0.065095	0.64402	D	0.000011	D	0.83211	0.5205	N	0.14661	0.345	0.58432	D	0.999992	B	0.13145	0.007	B	0.17098	0.017	T	0.77945	-0.2397	10	0.30854	T	0.27	-2.8172	16.2325	0.82356	0.0:0.0:1.0:0.0	.	1032	Q9P2K9	PTHD2_HUMAN	E	1032	ENSP00000294484:G1032E;ENSP00000374226:G1032E	ENSP00000294484:G1032E	G	+	2	0	PTCHD2	11512596	1.000000	0.71417	0.823000	0.32752	0.856000	0.48823	7.016000	0.76393	2.518000	0.84900	0.561000	0.74099	GGA	-	NULL		0.617	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	G	XM_052561	-		11590009	1	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11590009	G	A	11590009	3	1	203	1	0	0	0	0	1	0	0	0	12738	1174	41	2	3149	2	PTCHD2	1	11590009	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3703415	11590009	237660612	6	16036											
PLA2G5	5322	genome.wustl.edu	37	chr1	20416384	20416384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcgtggggcgtggtcacCtgcggtaaggctggggcttc	18	10	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:20416384C>T	ENST00000375108.3	+	4	556	c.288C>T	c.(286-288)acC>acT	p.T96T	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	96					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|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)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GCGTGGTCACCTGCGGTAAGG	0.582																																																	0								ENSG00000127472						88	73	78					1																	20416384		2203	4300	6503	PLA2G5	SO:0001819	synonymous_variant	0			-	HGNC	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.288C>T	1.37:g.20416384C>T		Somatic	0	61	0		0.41568620468393	8	50	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	Q8N435	Silent	SNP							pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.T96	ENST00000375108.3	37	c.288	CCDS202.1	1																																																																																			-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2		0.582	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G5	protein_coding	OTTHUMT00000007668.1	C	NM_000929	-		20416384	1	no_errors	ENST00000375108	ensembl	human	known	74_37	silent	SNP	1.000	T	T	20416384	C	T	20416384	2	4	203	1	0	0	0	0	0	0	0	1	12009	668	24	2		2	PLA2G5	1	20416384	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	8826375	20416384	228834237	7	16037											
CSMD2	114784	genome.wustl.edu	37	chr1	34090122	34090122	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccccttgcccctacctgGatgccagcgccttcggggac	11	19	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:34090122G>A	ENST00000373380.1	-	14	2461	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	CSMD2_ENST00000373381.4_Silent_p.I1874I|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1834	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCCTACCTGGATGCCAGCGC	0.657																																																	0								ENSG00000121904						104	89	94					1																	34090122		2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2241C>T	1.37:g.34090122G>A		Somatic	0	32	0		0.41568620468393	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I1874	ENST00000373380.1	37	c.5622		1																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.657	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	G	NM_052896	-		34090122	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	1.000	A	A	34090122	G	A	34090122	2	1	203	1	0	0	0	0	0	0	0	1	3947	1164	41	2		2	CSMD2	1	34090122	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	13673738	34090122	215160499	8	16038											
ZMYM4	9202	genome.wustl.edu	37	chr1	35857875	35857875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgagaaaagattcgactCcagttatagccaatgtagta	8	8	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:35857875C>T	ENST00000314607.6	+	16	2730	c.2650C>T	c.(2650-2652)Cca>Tca	p.P884S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P795S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	884					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATTCGACTCCAGTTATAGC	0.418																																																	0								ENSG00000146463						77	74	75					1																	35857875		2203	4300	6503	ZMYM4	SO:0001583	missense	0			-	HGNC	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2650C>T	1.37:g.35857875C>T	ENSP00000322915:p.Pro884Ser	Somatic	0	48	0		0.41568620468393	10	28.57	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP							pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.P884S	ENST00000314607.6	37	c.2650	CCDS389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.723103|4.723103	0.89298|0.89298	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.37235|.	1.23;1.21|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.057676|.	0.64402|.	D|.	0.000001|.	T|T	0.76463|0.76463	0.3991|0.3991	M|M	0.74647|0.74647	2.275|2.275	0.58432|0.58432	D|D	0.999997|0.999997	P|.	0.49307|.	0.922|.	P|.	0.51355|.	0.667|.	T|T	0.76691|0.76691	-0.2866|-0.2866	10|5	0.39692|.	T|.	0.17|.	-8.3923|-8.3923	18.5957|18.5957	0.91228|0.91228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	884|.	Q5VZL5|.	ZMYM4_HUMAN|.	S|F	884;795|543	ENSP00000322915:P884S;ENSP00000362394:P795S|.	ENSP00000322915:P884S|.	P|S	+|+	1|2	0|0	ZMYM4|ZMYM4	35630462|35630462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.475000|6.475000	0.73582|0.73582	2.465000|2.465000	0.83290|0.83290	0.591000|0.591000	0.81541|0.81541	CCA|TCC	-	NULL		0.418	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	protein_coding	OTTHUMT00000012207.3	C	NM_005095	-		35857875	1	no_errors	ENST00000314607	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35857875	C	T	35857875	3	4	203	1	0	0	0	0	1	0	0	0	17709	855	30	2	2712	2	ZMYM4	1	35857875	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1767753	35857875	213392746	9	16039											
MACF1	23499	genome.wustl.edu	37	chr1	39788365	39788365	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgccgtcgcatgctttcctCttcagatgccatcactcaag	8	15	4	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:39788365C>A	ENST00000372915.3	+	31	4217	c.4130C>A	c.(4129-4131)tCt>tAt	p.S1377Y	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.S1372Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S1377Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S1377Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S1377Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S1409Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S1377Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1377					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCTTTCCTCTTCAGATGCC	0.478																																																	0								ENSG00000127603						92	95	94					1																	39788365		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4130C>A	1.37:g.39788365C>A	ENSP00000362006:p.Ser1377Tyr	Somatic	0	63	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.S1377Y	ENST00000372915.3	37	c.4130		1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961251	0.92791	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.64803	-0.09;-0.12;-0.09;-0.12;0.07;1.75;1.75	5.73	5.73	0.89815	.	.	.	.	.	T	0.79034	0.4378	M	0.68952	2.095	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.917	D;D;P	0.72075	0.976;0.965;0.789	T	0.79722	-0.1684	9	0.72032	D	0.01	.	19.8919	0.96932	0.0:1.0:0.0:0.0	.	1377;1377;1342	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	Y	1377;1377;1377;1377;1377;1335;1526	ENSP00000439537:S1377Y;ENSP00000362006:S1377Y;ENSP00000354573:S1377Y;ENSP00000313438:S1377Y;ENSP00000444364:S1377Y;ENSP00000435070:S1335Y;ENSP00000437059:S1526Y	ENSP00000313438:S1377Y	S	+	2	0	MACF1	39560952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.699000	0.92147	0.655000	0.94253	TCT	-	smart_Spectrin/alpha-actinin		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	C	NM_033044	-		39788365	1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39788365	C	A	39788365	3	1	203	1	0	0	0	0	1	0	0	0	9146	913	32	3	4252	3	MACF1	1	39788365	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3930490	39788365	209462256	10	16040											
EIF2B3	8891	genome.wustl.edu	37	chr1	45407283	45407283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctaaacaggtccacaaCctcatgtaaggcaacgtctg	8	12	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:45407283C>T	ENST00000360403.2	-	4	475	c.349G>A	c.(349-351)Gtt>Att	p.V117I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.V117I|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	117					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGTCCACAACCTCATGTAAG	0.418																																					Colon(26;357 658 2581 11857 12657)												0								ENSG00000070785						209	187	194					1																	45407283		2203	4300	6503	EIF2B3	SO:0001583	missense	0			-	HGNC	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.349G>A	1.37:g.45407283C>T	ENSP00000353575:p.Val117Ile	Somatic	0	48	0		0.41568620468393	21	34.38	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP							pfam_NTP_transferase	p.V117I	ENST00000360403.2	37	c.349	CCDS517.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886036	0.51908	.	.	ENSG00000070785	ENST00000360403;ENST00000372183;ENST00000372182	D;D;T	0.94046	-3.34;-3.34;-0.7	5.43	5.43	0.79202	Nucleotidyl transferase (1);	0.061489	0.64402	D	0.000004	D	0.88001	0.6320	L	0.31371	0.925	0.58432	D	0.99999	B;B;B	0.26975	0.165;0.075;0.043	B;B;B	0.25140	0.051;0.058;0.058	D	0.84332	0.0522	10	0.28530	T	0.3	-8.6332	12.5645	0.56301	0.0:0.9238:0.0:0.0762	.	117;117;117	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	117	ENSP00000353575:V117I;ENSP00000361257:V117I;ENSP00000361256:V117I	ENSP00000353575:V117I	V	-	1	0	EIF2B3	45179870	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.578000	0.67450	2.552000	0.86080	0.591000	0.81541	GTT	-	pfam_NTP_transferase		0.418	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	protein_coding	OTTHUMT00000023724.1	C	NM_020365	-		45407283	-1	no_errors	ENST00000360403	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45407283	C	T	45407283	3	4	203	1	0	0	0	0	1	0	0	0	5004	507	18	2	1082	2	EIF2B3	1	45407283	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	5618918	45407283	203843338	11	16041											
PGM1	5236	genome.wustl.edu	37	chr1	64104443	64104443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacgcgagcaaactgtcCctttgtggggaggagagctt	15	8	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:64104443C>T	ENST00000371084.3	+	7	1329	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	PGM1_ENST00000371083.4_Silent_p.S390S|PGM1_ENST00000540265.1_Silent_p.S175S	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	372					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAAACTGTCCCTTTGTGGGG	0.483																																																	0								ENSG00000079739						160	151	154					1																	64104443		2203	4300	6503	PGM1	SO:0001819	synonymous_variant	0			-	HGNC	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1116C>T	1.37:g.64104443C>T		Somatic	0	107	0		0.41568620468393	120	27.65	47	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	54	37.93	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP							pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.S390	ENST00000371084.3	37	c.1170	CCDS625.1	1																																																																																			-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.483	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	protein_coding	OTTHUMT00000024868.1	C	NM_002633	-		64104443	1	no_errors	ENST00000371083	ensembl	human	known	74_37	silent	SNP	1.000	T	T	64104443	C	T	64104443	2	4	203	1	0	0	0	0	0	0	0	1	11799	610	22	2		2	PGM1	1	64104443	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	18697160	64104443	185146178	12	16042											
PDE4B	5142	genome.wustl.edu	37	chr1	66723501	66723501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccagcttgcgaagtgtgaGaaacaacttcactatactga	9	9	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:66723501G>A	ENST00000329654.4	+	6	726	c.539G>A	c.(538-540)aGa>aAa	p.R180K	PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Missense_Mutation_p.R180K|PDE4B_ENST00000423207.2_Missense_Mutation_p.R165K	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	180					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CGAAGTGTGAGAAACAACTTC	0.378																																																	0								ENSG00000184588						124	115	118					1																	66723501		2203	4300	6503	PDE4B	SO:0001583	missense	0			-	HGNC	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.539G>A	1.37:g.66723501G>A	ENSP00000332116:p.Arg180Lys	Somatic	0	45	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R180K	ENST00000329654.4	37	c.539	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785068	0.90282	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480	T;T;T;T;D	0.85013	-1.13;-1.13;-1.13;-1.14;-1.93	5.07	4.16	0.48862	.	0.081308	0.85682	D	0.000000	D	0.85839	0.5790	M	0.78916	2.43	0.58432	D	0.999995	P;P;P	0.52170	0.951;0.919;0.919	P;P;P	0.51974	0.686;0.489;0.489	D	0.88044	0.2783	10	0.87932	D	0	.	12.7438	0.57268	0.0798:0.0:0.9202:0.0	.	165;170;180	Q07343-3;Q59GM8;Q07343	.;.;PDE4B_HUMAN	K	180;180;180;165;88	ENSP00000332116:R180K;ENSP00000342637:R180K;ENSP00000360088:R180K;ENSP00000392947:R165K;ENSP00000397548:R88K	ENSP00000332116:R180K	R	+	2	0	PDE4B	66496089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.461000	0.90372	1.505000	0.48720	0.650000	0.86243	AGA	-	NULL		0.378	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	protein_coding	OTTHUMT00000025188.3	G	NM_002600	-		66723501	1	no_errors	ENST00000329654	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66723501	G	A	66723501	3	1	203	1	0	0	0	0	1	0	0	0	11642	942	33	2	797	2	PDE4B	1	66723501	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2619058	66723501	182527120	13	16043											
C1orf173	127254	genome.wustl.edu	37	chr1	75038368	75038368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcctcagggctgccctccGaaacctgcatccggcttgcc	9	18	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:75038368G>A	ENST00000326665.5	-	14	3244	c.3026C>T	c.(3025-3027)tCg>tTg	p.S1009L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1009	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGCCCTCCGAAACCTGCAT	0.542																																																	0								ENSG00000178965						105	97	99					1																	75038368		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.3026C>T	1.37:g.75038368G>A	ENSP00000322609:p.Ser1009Leu	Somatic	0	27	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP							NULL	p.S1009L	ENST00000326665.5	37	c.3026	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423520	0.25639	.	.	ENSG00000178965	ENST00000326665	T	0.11169	2.8	4.48	-4.55	0.03441	.	.	.	.	.	T	0.01558	0.0050	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.45934	-0.9227	9	0.27785	T	0.31	3.1012	5.6937	0.17843	0.3599:0.2455:0.3946:0.0	.	1009	Q5RHP9	CA173_HUMAN	L	1009	ENSP00000322609:S1009L	ENSP00000322609:S1009L	S	-	2	0	C1orf173	74810956	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.566000	0.05922	-1.213000	0.02617	-0.481000	0.04817	TCG	-	NULL		0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	G		-		75038368	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.000	A	A	75038368	G	A	75038368	3	1	203	1	0	0	0	0	1	0	0	0	2016	1059	37	1	1570	1	C1orf173	1	75038368	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	8314867	75038368	174212253	14	16044											
BTBD8	284697	genome.wustl.edu	37	chr1	92554330	92554330	+	Silent	SNP	C	C	G													ttcaaagcacacaaagcagtCcttttagcaagagttcctga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:92554330C>G	ENST00000342818.3	+	2	461	c.225C>G	c.(223-225)gtC>gtG	p.V75V	BTBD8_ENST00000370382.3_Silent_p.V75V|BTBD8_ENST00000540648.1_Silent_p.V75V	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	75	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				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)		ACAAAGCAGTCCTTTTAGCAA	0.368																																																	0								ENSG00000189195						120	119	119					1																	92554330		2203	4299	6502	BTBD8	SO:0001819	synonymous_variant	0			-	HGNC	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.225C>G	1.37:g.92554330C>G		Somatic	0	114	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	Q6V9S5	Silent	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V75	ENST00000342818.3	37	c.225	CCDS737.1	1																																																																																			-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.368	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	protein_coding	OTTHUMT00000028372.1	C	NM_183242	-		92554330	1	no_errors	ENST00000342818	ensembl	human	known	74_37	silent	SNP	1.000	G	G	92554330	C	G	92554330	2	3	203	1	0	0	0	0	0	0	0	1	1549	842	30	4		4	BTBD8	1	92554330	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	17515962	92554330	156696291	15	16045	397	2									
BTBD8	284697	genome.wustl.edu	37	chr1	92554331	92554331	+	Missense_Mutation	SNP	C	C	T													tcaaagcacacaaagcagtcCttttagcaagagttcctgac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:92554331C>T	ENST00000342818.3	+	2	462	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	BTBD8_ENST00000370382.3_Missense_Mutation_p.L76F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L76F	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	76	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				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)		CAAAGCAGTCCTTTTAGCAAG	0.368																																																	0								ENSG00000189195						120	119	119					1																	92554331		2203	4299	6502	BTBD8	SO:0001583	missense	0			-	HGNC	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.226C>T	1.37:g.92554331C>T	ENSP00000343686:p.Leu76Phe	Somatic	0	114	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	Q6V9S5	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L76F	ENST00000342818.3	37	c.226	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856040	0.51376	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	D;D;D	0.89681	-2.55;-2.55;-2.55	5.31	3.42	0.39159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.130764	0.32401	N	0.006157	D	0.88720	0.6513	H	0.94385	3.53	0.36600	D	0.874616	B	0.25563	0.129	B	0.32624	0.149	D	0.87374	0.2352	10	0.87932	D	0	-11.7815	10.4887	0.44737	0.0:0.8472:0.0:0.1528	.	76	Q5XKL5	BTBD8_HUMAN	F	76	ENSP00000359408:L76F;ENSP00000343686:L76F;ENSP00000443397:L76F	ENSP00000343686:L76F	L	+	1	0	BTBD8	92326919	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.014000	0.29950	0.718000	0.32166	0.591000	0.81541	CTT	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.368	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	protein_coding	OTTHUMT00000028372.1	C	NM_183242	-		92554331	1	no_errors	ENST00000342818	ensembl	human	known	74_37	missense	SNP	1.000	T	T	92554331	C	T	92554331	3	4	203	1	0	0	0	0	1	0	0	0	1549	681	24	2	232	2	BTBD8	1	92554331	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	92554331	156696290	16	16046	397	2									
ABCA4	24	genome.wustl.edu	37	chr1	94463579	94463579	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcctgggaagttcccctgGaagaactgctccacagggtt	12	12	0	1	rs63749058		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:94463579G>A	ENST00000370225.3	-	48	6653	c.6567C>T	c.(6565-6567)ttC>ttT	p.F2189F	ABCA4_ENST00000536513.1_Silent_p.F459F|ABCA4_ENST00000535881.1_Silent_p.F308F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2189					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)		AGTTCCCCTGGAAGAACTGCT	0.557																																																	0								ENSG00000198691						124	97	106					1																	94463579		2203	4300	6503	ABCA4	SO:0001819	synonymous_variant	0			-	HGNC	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.6567C>T	1.37:g.94463579G>A		Somatic	0	75	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	47	32.86	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.F2189	ENST00000370225.3	37	c.6567	CCDS747.1	1																																																																																			-	tigrfam_Rim_ABC_transpt		0.557	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	G	NM_000350	-		94463579	-1	no_errors	ENST00000370225	ensembl	human	known	74_37	silent	SNP	1.000	A	A	94463579	G	A	94463579	2	1	203	1	0	0	0	0	0	0	0	1	34	1165	41	2		2	ABCA4	1	94463579	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1909248	94463579	154787042	17	16047											
SNX7	51375	genome.wustl.edu	37	chr1	99157162	99157162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacttcattgagacacgcagGaaggctttacataaattttt	8	7	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:99157162G>A	ENST00000306121.3	+	4	555	c.546G>A	c.(544-546)agG>agA	p.R182R	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000370189.5_Silent_p.R118R	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	118					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGACACGCAGGAAGGCTTTAC	0.343																																																	0								ENSG00000162627						74	73	73					1																	99157162		2203	4300	6503	SNX7	SO:0001819	synonymous_variant	0			-	HGNC	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.546G>A	1.37:g.99157162G>A		Somatic	0	127	0		0.41568620468393	98	36.13	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	75	21.05	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Silent	SNP							pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R182	ENST00000306121.3	37	c.546	CCDS755.2	1																																																																																			-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.343	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	protein_coding	OTTHUMT00000029609.2	G		-		99157162	1	no_errors	ENST00000306121	ensembl	human	known	74_37	silent	SNP	0.998	A	A	99157162	G	A	99157162	2	1	203	1	0	0	0	0	0	0	0	1	14915	1165	41	2		2	SNX7	1	99157162	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4693583	99157162	150093459	18	16048											
GDAP2	54834	genome.wustl.edu	37	chr1	118462869	118462869	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatcgaacagtgtcttcctGaaatatttcagctgtagtat	8	7	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:118462869G>A	ENST00000369443.5	-	2	361	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.Q38*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	38					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTGTCTTCCTGAAATATTTCA	0.383																																																	0								ENSG00000196505						101	100	100					1																	118462869		2203	4300	6503	GDAP2	SO:0001587	stop_gained	0			-	HGNC	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.112C>T	1.37:g.118462869G>A	ENSP00000358451:p.Gln38*	Somatic	0	72	0		0.41568620468393	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	Q96DZ0	Nonsense_Mutation	SNP							pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom	p.Q38*	ENST00000369443.5	37	c.112	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.594304	0.97692	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	4.31	0.51392	.	0.567613	0.18439	N	0.141193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	0.5343	14.0861	0.64957	0.0722:0.0:0.9278:0.0	.	.	.	.	X	38	.	ENSP00000358450:Q38X	Q	-	1	0	GDAP2	118264392	1.000000	0.71417	0.122000	0.21767	0.868000	0.49771	7.431000	0.80335	1.572000	0.49736	0.650000	0.86243	CAG	-	NULL		0.383	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	protein_coding	OTTHUMT00000033732.2	G	NM_017686	-		118462869	-1	no_errors	ENST00000369443	ensembl	human	known	74_37	nonsense	SNP	0.851	A	A	118462869	G	A	118462869	4	1	203	1	0	0	0	0	0	1	0	0	6311	1299	45	2	1478	2	GDAP2	1	118462869	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	19305707	118462869	130787752	19	16049											
BCL9	607	genome.wustl.edu	37	chr1	147094275	147094275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaagactgtggccagctcaGatgacgactcccctccagct	9	15	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:147094275G>A	ENST00000234739.3	+	9	3846	c.3106G>A	c.(3106-3108)Gat>Aat	p.D1036N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1036	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGCCAGCTCAGATGACGACTC	0.483			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0								ENSG00000116128						147	138	141					1																	147094275		2203	4300	6503	BCL9	SO:0001583	missense	0			-	HGNC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3106G>A	1.37:g.147094275G>A	ENSP00000234739:p.Asp1036Asn	Somatic	0	55	0		0.41568620468393	24	4	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.11	Q5T489	Missense_Mutation	SNP							pfam_BCL9_beta-catenin-bd_dom	p.D1036N	ENST00000234739.3	37	c.3106	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.803867	0.96967	.	.	ENSG00000116128	ENST00000234739	T	0.52057	0.68	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.61559	-0.7038	10	0.87932	D	0	-13.4833	20.063	0.97692	0.0:0.0:1.0:0.0	.	1036;1036	Q1JQ81;O00512	.;BCL9_HUMAN	N	1036	ENSP00000234739:D1036N	ENSP00000234739:D1036N	D	+	1	0	BCL9	145560899	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GAT	-	NULL		0.483	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	protein_coding	OTTHUMT00000039468.1	G	NM_004326	-		147094275	1	no_errors	ENST00000234739	ensembl	human	known	74_37	missense	SNP	1.000	A	A	147094275	G	A	147094275	3	1	203	1	0	0	0	0	1	0	0	0	1381	942	33	2	3128	2	BCL9	1	147094275	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	28631406	147094275	102156346	20	16050											
FLG	2312	genome.wustl.edu	37	chr1	152287822	152287822	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttgccgaaattccttttcCagaagttccttcagctcttt	5	11	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:152287822C>A	ENST00000368799.1	-	2	146	c.111G>T	c.(109-111)ctG>ctT	p.L37L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			ATTCCTTTTCCAGAAGTTCCT	0.333									Ichthyosis																																								0								ENSG00000143631						172	176	174					1																	152287822		2203	4300	6503	FLG	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.111G>T	1.37:g.152287822C>A		Somatic	0	49	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.26	Q01720|Q5T583|Q9UC71	Silent	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.L37	ENST00000368799.1	37	c.111	CCDS30860.1	1																																																																																			-	pfam_S100_Ca-bd_sub		0.333	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016	-		152287822	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	SNP	1.000	A	A	152287822	C	A	152287822	2	1	203	1	0	0	0	0	0	0	0	1	5924	581	21	3		3	FLG	1	152287822	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	5193547	152287822	96962799	21	16051											
FLG2	388698	genome.wustl.edu	37	chr1	152323447	152323447	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttggccctgaatgtgtcctGaatgtgtgtgtgagccccat	12	10	0	3	rs554543735		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:152323447G>A	ENST00000388718.5	-	3	6887	c.6815C>T	c.(6814-6816)tCa>tTa	p.S2272L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2272					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTCCTGAATGTGTGTG	0.522													G|||	1	0.000199681	0	0	5008	,	,		25014	0		0	False		,,,				2504	0.001																0								ENSG00000143520						310	286	294					1																	152323447		2203	4300	6503	FLG2	SO:0001583	missense	0			-	HGNC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6815C>T	1.37:g.152323447G>A	ENSP00000373370:p.Ser2272Leu	Somatic	0	138	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	74	19.57	Q9H4U1	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2272L	ENST00000388718.5	37	c.6815	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329507	0.60743	.	.	ENSG00000143520	ENST00000388718	T	0.08370	3.1	3.83	3.83	0.44106	.	.	.	.	.	T	0.14056	0.0340	M	0.68593	2.085	0.09310	N	0.999999	D	0.67145	0.996	D	0.74348	0.983	T	0.03608	-1.1020	9	0.39692	T	0.17	4.7473	12.0961	0.53755	0.0:0.0:1.0:0.0	.	2272	Q5D862	FILA2_HUMAN	L	2272	ENSP00000373370:S2272L	ENSP00000373370:S2272L	S	-	2	0	FLG2	150590071	0.067000	0.21026	0.012000	0.15200	0.037000	0.13140	3.180000	0.50895	2.134000	0.65973	0.449000	0.29647	TCA	-	NULL		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	G	NM_001014342	-		152323447	-1	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	SNP	0.231	A	A	152323447	G	A	152323447	3	1	203	1	0	0	0	0	1	0	0	0	5925	1294	45	2	364	2	FLG2	1	152323447	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	35625	152323447	96927174	22	16052											
NUP210L	91181	genome.wustl.edu	37	chr1	154042818	154042818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttataatcttcgaaatGggctagtgtttcattggagg	11	4	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:154042818G>A	ENST00000368559.3	-	17	2556	c.2485C>T	c.(2485-2487)Cat>Tat	p.H829Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H829Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	829					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTCGAAATGGGCTAGTGTT	0.378																																																	0								ENSG00000143552						150	137	141					1																	154042818		1905	4112	6017	NUP210L	SO:0001583	missense	0			-	HGNC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2485C>T	1.37:g.154042818G>A	ENSP00000357547:p.His829Tyr	Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP							pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.H829Y	ENST00000368559.3	37	c.2485	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536296	0.27475	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.41758	0.99;0.99	5.12	-1.36	0.09085	.	0.785466	0.11330	N	0.575093	T	0.04318	0.0119	N	0.08118	0	0.22142	N	0.999332	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42275	-0.9461	10	0.02654	T	1	-15.3064	4.9854	0.14187	0.3951:0.0:0.463:0.1419	.	829;829	E7EP56;Q5VU65	.;P210L_HUMAN	Y	829	ENSP00000357547:H829Y;ENSP00000271854:H829Y	ENSP00000271854:H829Y	H	-	1	0	NUP210L	152309442	0.986000	0.35501	0.970000	0.41538	0.986000	0.74619	0.224000	0.17738	0.125000	0.18397	0.498000	0.49722	CAT	-	NULL		0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	protein_coding	OTTHUMT00000087270.3	G	NM_207308	-		154042818	-1	no_errors	ENST00000368559	ensembl	human	known	74_37	missense	SNP	0.933	A	A	154042818	G	A	154042818	3	1	203	1	0	0	0	0	1	0	0	0	10763	1348	47	2	3277	2	NUP210L	1	154042818	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1719371	154042818	95207803	23	16053											
NUP210L	91181	genome.wustl.edu	37	chr1	154042843	154042843	+	Missense_Mutation	SNP	C	C	G													agtgtttcattggaggatttCcattctagcattagtgaact							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:154042843C>G	ENST00000368559.3	-	17	2531	c.2460G>C	c.(2458-2460)tgG>tgC	p.W820C	NUP210L_ENST00000271854.3_Missense_Mutation_p.W820C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	820					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAGGATTTCCATTCTAGCA	0.408																																																	0								ENSG00000143552						143	130	134					1																	154042843		1889	4104	5993	NUP210L	SO:0001583	missense	0			-	HGNC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2460G>C	1.37:g.154042843C>G	ENSP00000357547:p.Trp820Cys	Somatic	0	43	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP							pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.W820C	ENST00000368559.3	37	c.2460	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383095	0.61845	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23552	1.9;1.9	5.12	5.12	0.69794	.	0.000000	0.51477	D	0.000092	T	0.44414	0.1292	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.46596	-0.9180	10	0.87932	D	0	-2.7505	15.6471	0.77063	0.0:1.0:0.0:0.0	.	820;820	E7EP56;Q5VU65	.;P210L_HUMAN	C	820	ENSP00000357547:W820C;ENSP00000271854:W820C	ENSP00000271854:W820C	W	-	3	0	NUP210L	152309467	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.713000	0.54882	2.428000	0.82296	0.498000	0.49722	TGG	-	NULL		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	protein_coding	OTTHUMT00000087270.3	C	NM_207308	-		154042843	-1	no_errors	ENST00000368559	ensembl	human	known	74_37	missense	SNP	1.000	G	G	154042843	C	G	154042843	3	3	203	1	0	0	0	0	1	0	0	0	10763	856	30	4	3302	4	NUP210L	1	154042843	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	25	154042843	95207778	24	16054	398	2									
NUP210L	91181	genome.wustl.edu	37	chr1	154042844	154042844	+	Nonsense_Mutation	SNP	C	C	T													gtgtttcattggaggatttcCattctagcattagtgaactg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:154042844C>T	ENST00000368559.3	-	17	2530	c.2459G>A	c.(2458-2460)tGg>tAg	p.W820*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.W820*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	820					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGAGGATTTCCATTCTAGCAT	0.408																																																	0								ENSG00000143552						143	129	134					1																	154042844		1887	4103	5990	NUP210L	SO:0001587	stop_gained	0			-	HGNC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2459G>A	1.37:g.154042844C>T	ENSP00000357547:p.Trp820*	Somatic	0	44	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP							pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.W820*	ENST00000368559.3	37	c.2459	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.501112	0.98322	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	5.12	5.12	0.69794	.	0.000000	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7505	15.6471	0.77063	0.0:1.0:0.0:0.0	.	.	.	.	X	820	.	ENSP00000271854:W820X	W	-	2	0	NUP210L	152309468	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.427000	0.66483	2.428000	0.82296	0.498000	0.49722	TGG	-	NULL		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	protein_coding	OTTHUMT00000087270.3	C	NM_207308	-		154042844	-1	no_errors	ENST00000368559	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	154042844	C	T	154042844	4	4	203	1	0	0	0	0	0	1	0	0	10763	595	21	2	3303	2	NUP210L	1	154042844	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	154042844	95207777	25	16055	398	2									
ADAR	103	genome.wustl.edu	37	chr1	154569412	154569412	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgagctcgccaatcttcctGaccttgttgggcatcatgga	10	12	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:154569412G>A	ENST00000368474.4	-	6	2338	c.2139C>T	c.(2137-2139)gtC>gtT	p.V713V	ADAR_ENST00000292205.5_Silent_p.V756V|ADAR_ENST00000368471.3_Silent_p.V418V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	713					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CAATCTTCCTGACCTTGTTGG	0.493																																																	0								ENSG00000160710						122	103	109					1																	154569412		2203	4300	6503	ADAR	SO:0001819	synonymous_variant	0			-	HGNC	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2139C>T	1.37:g.154569412G>A		Somatic	0	69	0		0.41568620468393	31	22.5	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP							pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.V756	ENST00000368474.4	37	c.2268	CCDS1071.1	1																																																																																			-	NULL		0.493	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	protein_coding	OTTHUMT00000090691.2	G	NM_001111	-		154569412	-1	no_errors	ENST00000292205	ensembl	human	known	74_37	silent	SNP	0.870	A	A	154569412	G	A	154569412	2	1	203	1	0	0	0	0	0	0	0	1	281	1277	45	2		2	ADAR	1	154569412	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	526568	154569412	94681209	26	16056											
CADM3	57863	genome.wustl.edu	37	chr1	159163736	159163736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgacattccaggttacCcgggaggatgatggggcgag	17	8	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:159163736C>T	ENST00000368125.4	+	5	754	c.597C>T	c.(595-597)acC>acT	p.T199T	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T233T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	199	Ig-like C2-type 1.				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)					TCCAGGTTACCCGGGAGGATG	0.498																																																	0								ENSG00000162706						110	95	100					1																	159163736		2203	4300	6503	CADM3	SO:0001819	synonymous_variant	0			-	HGNC	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.597C>T	1.37:g.159163736C>T		Somatic	0	66	0		0.41568620468393	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP							pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.T233	ENST00000368125.4	37	c.699	CCDS44251.1	1																																																																																			-	pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.498	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	protein_coding	OTTHUMT00000090330.1	C	NM_021189	-		159163736	1	no_errors	ENST00000368124	ensembl	human	known	74_37	silent	SNP	0.990	T	T	159163736	C	T	159163736	2	4	203	1	0	0	0	0	0	0	0	1	2570	610	22	2		2	CADM3	1	159163736	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4594324	159163736	90086885	27	16057											
ASTN1	460	genome.wustl.edu	37	chr1	177001985	177001985	+	Splice_Site	SNP	C	C	T													cagcagagcgatcatgccacCctaggaagagaggaccacag					rs143158997		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:177001985C>T	ENST00000367654.3	-	3	683	c.472G>A	c.(472-474)Ggt>Agt	p.G158S	ASTN1_ENST00000361833.2_Splice_Site_p.G158S|ASTN1_ENST00000424564.2_Splice_Site_p.G158S|ASTN1_ENST00000367657.3_Splice_Site_p.G158S|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	158					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCATGCCACCCTAGGAAGAG	0.557																																																	0								ENSG00000152092						46	41	43					1																	177001985		2201	4299	6500	ASTN1	SO:0001630	splice_region_variant	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.472-1G>A	1.37:g.177001985C>T		Somatic	0	23	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.G158S	ENST00000367654.3	37	c.472		1	.	.	.	.	.	.	.	.	.	.	C	33	5.250245	0.95305	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18338	2.22;2.63;2.63;2.22	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02774	-1.1112	10	0.39692	T	0.17	-19.5497	18.8102	0.92054	0.0:1.0:0.0:0.0	.	158;158;158	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	158	ENSP00000356629:G158S;ENSP00000354536:G158S;ENSP00000356626:G158S;ENSP00000395041:G158S	ENSP00000354536:G158S	G	-	1	0	ASTN1	175268608	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.676000	0.84012	2.509000	0.84616	0.655000	0.94253	GGT	-	NULL		0.557	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		C	NM_004319	-	Missense_Mutation	177001985	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	SNP	1.000	T	T	177001985	C	T	177001985	5	4	203	1	0	0	0	0	0	0	1	0	1064	637	22	2	3500	2	ASTN1	1	177001985	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	17838249	177001985	72248636	28	16058	399	2									
ASTN1	460	genome.wustl.edu	37	chr1	177001986	177001986	+	Splice_Site	SNP	C	C	T													agcagagcgatcatgccaccCtaggaagagaggaccacaga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:177001986C>T	ENST00000367654.3	-	3	683		c.e3-1		ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCATGCCACCCTAGGAAGAGA	0.562																																																	0								ENSG00000152092						45	40	42					1																	177001986		2201	4298	6499	ASTN1	SO:0001630	splice_region_variant	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.472-1G>A	1.37:g.177001986C>T		Somatic	0	23	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Splice_Site	SNP							-	e3-1	ENST00000367654.3	37	c.472-1		1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086270	0.76642	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8102	0.92054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTN1	175268609	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.676000	0.84012	2.509000	0.84616	0.655000	0.94253	.	-	-		0.562	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		C	NM_004319	-	Intron	177001986	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	177001986	C	T	177001986	5	4	203	1	0	0	0	0	0	0	1	0	1064	695	24	2	3501	2	ASTN1	1	177001986	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	177001986	72248635	29	16059	399	2									
ABL2	27	genome.wustl.edu	37	chr1	179078352	179078352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaagttacccgtgagttCgtatttcttatggggctgat	12	6	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:179078352C>T	ENST00000502732.1	-	12	2253	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	ABL2_ENST00000367623.4_Missense_Mutation_p.E663K|ABL2_ENST00000504405.1_Missense_Mutation_p.E648K|ABL2_ENST00000512653.1_Missense_Mutation_p.E669K|ABL2_ENST00000344730.3_Missense_Mutation_p.E669K|ABL2_ENST00000507173.1_Missense_Mutation_p.E663K|ABL2_ENST00000511413.1_Missense_Mutation_p.E684K|ABL2_ENST00000408940.3_Missense_Mutation_p.E648K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	684					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|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)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.E648K(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCGTGAGTTCGTATTTCTTA	0.512			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000143322						189	198	195					1																	179078352		2203	4300	6503	ABL2	SO:0001583	missense	0			-	HGNC	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2050G>A	1.37:g.179078352C>T	ENSP00000427562:p.Glu684Lys	Somatic	0	53	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.28	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E684K	ENST00000502732.1	37	c.2050	CCDS30947.1	1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988498	0.53934	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.16196	3.0;3.0;2.36;3.0;2.36;3.0;2.36;2.36	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000097	T	0.37376	0.1001	L	0.48642	1.525	0.80722	D	1	D;D;D;B;P;D;D;D	0.89917	0.997;0.997;0.997;0.069;0.474;1.0;0.979;0.977	P;P;P;B;B;D;P;P	0.79108	0.728;0.654;0.654;0.08;0.056;0.992;0.512;0.481	T	0.01252	-1.1405	10	0.46703	T	0.11	.	18.8208	0.92096	0.0:1.0:0.0:0.0	.	663;663;684;648;684;669;648;669	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	K	684;648;669;669;648;663;663;684	ENSP00000427562:E684K;ENSP00000386152:E648K;ENSP00000339209:E669K;ENSP00000423578:E669K;ENSP00000426831:E648K;ENSP00000356595:E663K;ENSP00000423413:E663K;ENSP00000424697:E684K	ENSP00000339209:E669K	E	-	1	0	ABL2	177344975	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.636000	0.83301	2.686000	0.91538	0.591000	0.81541	GAA	-	NULL		0.512	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	protein_coding	OTTHUMT00000085174.3	C	NM_005158	-		179078352	-1	no_errors	ENST00000502732	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179078352	C	T	179078352	3	4	203	1	0	0	0	0	1	0	0	0	93	893	31	1	1502	1	ABL2	1	179078352	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2076366	179078352	70172269	30	16060											
CACNA1E	777	genome.wustl.edu	37	chr1	181686364	181686364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttactggattgtgctgaGccttgtggcactcaacactg	11	9	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:181686364G>A	ENST00000367573.2	+	11	1451	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	CACNA1E_ENST00000526775.1_Missense_Mutation_p.S484N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S484N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S435N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S484N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S435N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S91N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	484					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						ATTGTGCTGAGCCTTGTGGCA	0.522																																																	0								ENSG00000198216						103	105	104					1																	181686364		1993	4181	6174	CACNA1E	SO:0001583	missense	0			-	HGNC	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.1451G>A	1.37:g.181686364G>A	ENSP00000356545:p.Ser484Asn	Somatic	0	46	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.S484N	ENST00000367573.2	37	c.1451	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417835	0.62622	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	5.32	4.4	0.53042	.	0.197383	0.64402	D	0.000011	D	0.94807	0.8323	L	0.50333	1.59	0.35549	D	0.803677	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	D	0.94474	0.7687	10	0.41790	T	0.15	.	13.587	0.61937	0.0754:0.0:0.9246:0.0	.	484;484	Q15878-2;Q15878-3	.;.	N	484;484;435;435;91;484;484	ENSP00000356542:S484N;ENSP00000434814:S484N;ENSP00000350183:S435N;ENSP00000351101:S435N;ENSP00000356539:S91N;ENSP00000353222:S484N;ENSP00000356545:S484N	ENSP00000350183:S435N	S	+	2	0	CACNA1E	179952987	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.675000	0.98638	1.367000	0.46095	0.655000	0.94253	AGC	-	NULL		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	G	NM_000721	-		181686364	1	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	SNP	1.000	A	A	181686364	G	A	181686364	3	1	203	1	0	0	0	0	1	0	0	0	2544	971	34	2	1493	2	CACNA1E	1	181686364	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2608012	181686364	67564257	31	16061											
CACNA1E	777	genome.wustl.edu	37	chr1	181701549	181701549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcgccggcaccacatgtCcgtgtgggagcagcgtacca	15	13	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:181701549C>T	ENST00000367573.2	+	20	2327	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	CACNA1E_ENST00000526775.1_Missense_Mutation_p.S757F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S757F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S727F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S776F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S708F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S383F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	776					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						CACCACATGTCCGTGTGGGAG	0.677																																																	0								ENSG00000198216						30	43	38					1																	181701549		1742	3193	4935	CACNA1E	SO:0001583	missense	0			-	HGNC	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.2327C>T	1.37:g.181701549C>T	ENSP00000356545:p.Ser776Phe	Somatic	0	46	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.S776F	ENST00000367573.2	37	c.2327	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288889	0.80914	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97529	-4.37;-4.12;-4.42;-4.09;-4.25;-4.12;-4.38	3.82	3.82	0.43975	.	10.743100	0.00166	N	0.000000	D	0.98099	0.9373	L	0.43923	1.385	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.80764	0.994;0.986;0.994	D	0.91844	0.5486	10	0.87932	D	0	.	16.6042	0.84824	0.0:1.0:0.0:0.0	.	757;776;776	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	F	776;757;727;708;383;757;776	ENSP00000356542:S776F;ENSP00000434814:S757F;ENSP00000350183:S727F;ENSP00000351101:S708F;ENSP00000356539:S383F;ENSP00000353222:S757F;ENSP00000356545:S776F	ENSP00000350183:S727F	S	+	2	0	CACNA1E	179968172	1.000000	0.71417	0.956000	0.39512	0.978000	0.69477	7.417000	0.80156	2.437000	0.82529	0.561000	0.74099	TCC	-	NULL		0.677	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721	-		181701549	1	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	SNP	0.999	T	T	181701549	C	T	181701549	3	4	203	1	0	0	0	0	1	0	0	0	2544	855	30	2	2405	2	CACNA1E	1	181701549	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	15185	181701549	67549072	32	16062											
GLT25D2	23127	genome.wustl.edu	37	chr1	183914594	183914594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgagtagtggctgagaAagcagccgatttcacccctt	11	10	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:183914594A>C	ENST00000361927.4	-	9	1612	c.1241T>G	c.(1240-1242)tTt>tGt	p.F414C	COLGALT2_ENST00000367520.3_Missense_Mutation_p.F151C|COLGALT2_ENST00000367521.1_Missense_Mutation_p.F22C|COLGALT2_ENST00000546159.1_Missense_Mutation_p.F414C	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	414					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GTGGCTGAGAAAGCAGCCGAT	0.453																																																	0								ENSG00000198756						115	114	114					1																	183914594		2203	4300	6503	COLGALT2	SO:0001583	missense	0			-	HGNC	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1241T>G	1.37:g.183914594A>C	ENSP00000354960:p.Phe414Cys	Somatic	0	66	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	O60327|Q9BZR0	Missense_Mutation	SNP							pfam_Glyco_trans_25	p.F414C	ENST00000361927.4	37	c.1241	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491180	0.84962	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	T;T	0.80566	-1.38;-1.39	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.94462	0.7677	10	0.87932	D	0	-15.2925	15.3979	0.74812	1.0:0.0:0.0:0.0	.	414;414;151	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	C	414;414;22;151	ENSP00000439112:F414C;ENSP00000354960:F414C	ENSP00000354960:F414C	F	-	2	0	GLT25D2	182181217	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.156000	0.77453	2.042000	0.60477	0.455000	0.32223	TTT	-	pfam_Glyco_trans_25		0.453	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	protein_coding	OTTHUMT00000086128.1	A	NM_015101	-		183914594	-1	no_errors	ENST00000361927	ensembl	human	known	74_37	missense	SNP	1.000	C	C	183914594	A	C	183914594	3	2	203	1	0	0	0	0	1	0	0	0	6469	14	1	5	655	5	GLT25D2	1	183914594	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	2213045	183914594	65336027	33	16063											
HMCN1	83872	genome.wustl.edu	37	chr1	186106679	186106679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcctgcagtgtcacCtgtggaaaaggcatccaaaa	12	9	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:186106679C>T	ENST00000271588.4	+	88	13861	c.13632C>T	c.(13630-13632)acC>acT	p.T4544T	HMCN1_ENST00000367492.2_Silent_p.T4544T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4544	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						GCAGTGTCACCTGTGGAAAAG	0.463																																																	0								ENSG00000143341						69	68	68					1																	186106679		2203	4300	6503	HMCN1	SO:0001819	synonymous_variant	0			-	HGNC	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.13632C>T	1.37:g.186106679C>T		Somatic	0	50	0		0.41568620468393	13	23.53	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.T4544	ENST00000271588.4	37	c.13632	CCDS30956.1	1																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	C	NM_031935	-		186106679	1	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	SNP	1.000	T	T	186106679	C	T	186106679	2	4	203	1	0	0	0	0	0	0	0	1	7222	668	24	2		2	HMCN1	1	186106679	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2192085	186106679	63143942	34	16064											
PRG4	10216	genome.wustl.edu	37	chr1	186281401	186281401	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatccagtgtatggagaaacGacacaggttaggagacgtcg	13	7	0	2	rs565193791		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:186281401G>A	ENST00000445192.2	+	11	3933	c.3888G>A	c.(3886-3888)acG>acA	p.T1296T	RNU6-1240P_ENST00000365155.1_RNA|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367484.3_Silent_p.T825T|PRG4_ENST00000367483.4_Silent_p.T1255T|PRG4_ENST00000367486.3_Silent_p.T1253T|PRG4_ENST00000367485.4_Silent_p.T1203T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1296			T -> M (in dbSNP:rs12134934). {ECO:0000269|Ref.1}.		cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATGGAGAAACGACACAGGTTA	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		15340	0		0	False		,,,				2504	0																0								ENSG00000116690						132	129	130					1																	186281401		2203	4300	6503	PRG4	SO:0001819	synonymous_variant	0			-	HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3888G>A	1.37:g.186281401G>A		Somatic	0	95	0		0.41568620468393	22	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.29	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP							pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.T1296	ENST00000445192.2	37	c.3888	CCDS1369.1	1																																																																																			-	superfamily_Hemopexin-like_dom		0.443	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	G	NM_005807	-		186281401	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	SNP	0.000	A	A	186281401	G	A	186281401	2	1	203	1	0	0	0	0	0	0	0	1	12486	1045	37	1		1	PRG4	1	186281401	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	174722	186281401	62969220	35	16065											
ZNF281	23528	genome.wustl.edu	37	chr1	200378098	200378098	+	Missense_Mutation	SNP	C	C	T													ggcaccttctccatctccaaCcaaagaaggtttggaagatg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:200378098C>T	ENST00000294740.3	-	2	860	c.736G>A	c.(736-738)Gtt>Att	p.V246I	ZNF281_ENST00000367352.3_Missense_Mutation_p.V210I|ZNF281_ENST00000367353.1_Missense_Mutation_p.V246I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	246					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|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)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCATCTCCAACCAAAGAAGGT	0.478																																																	0								ENSG00000162702						150	139	143					1																	200378098		2203	4300	6503	ZNF281	SO:0001583	missense	0			-	HGNC	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.736G>A	1.37:g.200378098C>T	ENSP00000294740:p.Val246Ile	Somatic	0	40	0		0.41568620468393	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V246I	ENST00000294740.3	37	c.736	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382357	0.42207	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.07688	3.17;3.17;3.17	5.64	5.64	0.86602	.	0.294486	0.32147	N	0.006503	T	0.06554	0.0168	N	0.22421	0.69	0.33588	D	0.600737	B;B	0.25105	0.118;0.118	B;B	0.18871	0.023;0.023	T	0.24835	-1.0149	10	0.23302	T	0.38	-6.3344	13.9361	0.64026	0.0:0.9276:0.0:0.0723	.	210;246	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	246;246;210	ENSP00000294740:V246I;ENSP00000356322:V246I;ENSP00000356321:V210I	ENSP00000294740:V246I	V	-	1	0	ZNF281	198644721	0.999000	0.42202	0.543000	0.28128	0.997000	0.91878	4.101000	0.57769	2.644000	0.89710	0.655000	0.94253	GTT	-	NULL		0.478	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	protein_coding	OTTHUMT00000086879.2	C	NM_012482	-		200378098	-1	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	SNP	0.967	T	T	200378098	C	T	200378098	3	4	203	1	0	0	0	0	1	0	0	0	17825	507	18	2	1955	2	ZNF281	1	200378098	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	14096697	200378098	48872523	36	16066	400	2									
ZNF281	23528	genome.wustl.edu	37	chr1	200378099	200378099	+	Silent	SNP	C	C	T													gcaccttctccatctccaacCaaagaaggtttggaagatgc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:200378099C>T	ENST00000294740.3	-	2	859	c.735G>A	c.(733-735)ttG>ttA	p.L245L	ZNF281_ENST00000367352.3_Silent_p.L209L|ZNF281_ENST00000367353.1_Silent_p.L245L	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	245					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|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)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CATCTCCAACCAAAGAAGGTT	0.483																																																	0								ENSG00000162702						150	139	143					1																	200378099		2203	4300	6503	ZNF281	SO:0001819	synonymous_variant	0			-	HGNC	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.735G>A	1.37:g.200378099C>T		Somatic	0	40	0		0.41568620468393	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L245	ENST00000294740.3	37	c.735	CCDS1402.1	1																																																																																			-	NULL		0.483	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	protein_coding	OTTHUMT00000086879.2	C	NM_012482	-		200378099	-1	no_errors	ENST00000294740	ensembl	human	known	74_37	silent	SNP	0.966	T	T	200378099	C	T	200378099	2	4	203	1	0	0	0	0	0	0	0	1	17825	593	21	2		2	ZNF281	1	200378099	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	200378099	48872522	37	16067	400	2									
TMEM183A	92703	genome.wustl.edu	37	chr1	202984051	202984051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggagaagagtatccCatggatatttggctattgct	13	6	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:202984051C>T	ENST00000367242.3	+	4	482	c.402C>T	c.(400-402)ccC>ccT	p.P134P	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	134						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AAGAGTATCCCATGGATATTT	0.413																																																	0								ENSG00000163444						82	80	80					1																	202984051		2203	4300	6503	TMEM183A	SO:0001819	synonymous_variant	0			-	HGNC	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 37"	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.402C>T	1.37:g.202984051C>T		Somatic	0	92	0		0.41568620468393	35	23.91	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	A8K5W1|Q6NW15|Q96E06	Silent	SNP							superfamily_F-box_dom	p.P134	ENST00000367242.3	37	c.402	CCDS1432.1	1																																																																																			-	superfamily_F-box_dom		0.413	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM183A	protein_coding	OTTHUMT00000100129.1	C	NM_138391	-		202984051	1	no_errors	ENST00000367242	ensembl	human	known	74_37	silent	SNP	1.000	T	T	202984051	C	T	202984051	2	4	203	1	0	0	0	0	0	0	0	1	16109	581	21	2		2	TMEM183A	1	202984051	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2605952	202984051	46266570	38	16068											
USH2A	7399	genome.wustl.edu	37	chr1	216373131	216373131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacgcctgtacagaaaaatCgtacttggcaaatggaacca	8	10	0	1	rs202247801		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:216373131C>T	ENST00000307340.3	-	17	4035	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	USH2A_ENST00000366943.2_Missense_Mutation_p.D1217N|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1217N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1217	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D1217N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000042781						84	87	86					1																	216373131		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3649G>A	1.37:g.216373131C>T	ENSP00000305941:p.Asp1217Asn	Somatic	0	68	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	53	18.46	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D1217N	ENST00000307340.3	37	c.3649	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804487	0.02819	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.55052	0.54;0.54;0.54	5.87	-6.0	0.02206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.695440	0.03437	N	0.208746	T	0.16257	0.0391	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.11717	-1.0576	10	0.11182	T	0.66	.	0.3445	0.00339	0.2336:0.2568:0.1986:0.3111	.	1217;1217	O75445-2;O75445	.;USH2A_HUMAN	N	1217	ENSP00000305941:D1217N;ENSP00000355910:D1217N;ENSP00000355909:D1217N	ENSP00000305941:D1217N	D	-	1	0	USH2A	214439754	0.463000	0.25799	0.001000	0.08648	0.023000	0.10783	0.692000	0.25482	-0.944000	0.03686	-2.735000	0.00129	GAT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123	-		216373131	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.000	T	T	216373131	C	T	216373131	3	4	203	1	0	0	0	0	1	0	0	0	17043	884	31	1	12197	1	USH2A	1	216373131	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	13389080	216373131	32877490	39	16069											
TMEM63A	9725	genome.wustl.edu	37	chr1	226049966	226049966	+	Missense_Mutation	SNP	G	G	A													tgacgaaggccattcccaggGgctggtcctggacgtggcgt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:226049966G>A	ENST00000366835.3	-	13	1307	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	TMEM63A_ENST00000537914.1_Missense_Mutation_p.P20L|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	346					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CATTCCCAGGGGCTGGTCCTG	0.577																																																	0								ENSG00000196187						135	106	116					1																	226049966		2203	4300	6503	TMEM63A	SO:0001583	missense	0			-	HGNC		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1037C>T	1.37:g.226049966G>A	ENSP00000355800:p.Pro346Leu	Somatic	0	67	0		0.41568620468393	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP							pfam_DUF221	p.P346L	ENST00000366835.3	37	c.1037	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.773201	0.96922	.	.	ENSG00000196187	ENST00000366835;ENST00000537914	T	0.42513	0.97	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.143303	0.64402	D	0.000004	T	0.68293	0.2985	M	0.82056	2.57	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.68606	-0.5364	10	0.49607	T	0.09	-28.4403	19.9223	0.97091	0.0:0.0:1.0:0.0	.	346	O94886	TM63A_HUMAN	L	346;20	ENSP00000355800:P346L	ENSP00000355800:P346L	P	-	2	0	TMEM63A	224116589	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.615000	0.98356	2.709000	0.92574	0.555000	0.69702	CCC	-	NULL		0.577	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	protein_coding	OTTHUMT00000091154.2	G	NM_014698	-		226049966	-1	no_errors	ENST00000366835	ensembl	human	known	74_37	missense	SNP	1.000	A	A	226049966	G	A	226049966	3	1	203	1	0	0	0	0	1	0	0	0	16197	1232	43	2	1434	2	TMEM63A	1	226049966	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	9676835	226049966	23200655	40	16070	401	2									
TMEM63A	9725	genome.wustl.edu	37	chr1	226049967	226049967	+	Missense_Mutation	SNP	G	G	A													gacgaaggccattcccagggGctggtcctggacgtggcgtt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:226049967G>A	ENST00000366835.3	-	13	1306	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	TMEM63A_ENST00000537914.1_Missense_Mutation_p.P20S|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	346					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ATTCCCAGGGGCTGGTCCTGG	0.572																																																	0								ENSG00000196187						136	107	117					1																	226049967		2203	4300	6503	TMEM63A	SO:0001583	missense	0			-	HGNC		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1036C>T	1.37:g.226049967G>A	ENSP00000355800:p.Pro346Ser	Somatic	0	67	0		0.41568620468393	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP							pfam_DUF221	p.P346S	ENST00000366835.3	37	c.1036	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621386	0.66787	.	.	ENSG00000196187	ENST00000366835;ENST00000537914	T	0.37058	1.22	5.71	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);	0.143303	0.64402	N	0.000004	T	0.52419	0.1733	M	0.82056	2.57	0.58432	D	0.999999	D	0.54964	0.969	P	0.53401	0.725	T	0.54768	-0.8244	10	0.27082	T	0.32	-28.4403	14.79	0.69833	0.0691:0.0:0.9309:0.0	.	346	O94886	TM63A_HUMAN	S	346;20	ENSP00000355800:P346S	ENSP00000355800:P346S	P	-	1	0	TMEM63A	224116590	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.784000	0.85713	1.433000	0.47394	-0.266000	0.10368	CCC	-	NULL		0.572	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	protein_coding	OTTHUMT00000091154.2	G	NM_014698	-		226049967	-1	no_errors	ENST00000366835	ensembl	human	known	74_37	missense	SNP	1.000	A	A	226049967	G	A	226049967	3	1	203	1	0	0	0	0	1	0	0	0	16197	1203	42	2	1435	2	TMEM63A	1	226049967	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	226049967	23200654	41	16071	401	2									
ZNF678	339500	genome.wustl.edu	37	chr1	227842879	227842879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagtttgcaagccttactCgtcataaaagaattcatact	5	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:227842879C>T	ENST00000343776.5	+	4	1273	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.R365C	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAGCCTTACTCGTCATAAAAG	0.393																																																	0								ENSG00000181450						48	53	52					1																	227842879		2203	4298	6501	ZNF678	SO:0001583	missense	0			-	HGNC	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.928C>T	1.37:g.227842879C>T	ENSP00000344828:p.Arg310Cys	Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	Q8IVQ9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R365C	ENST00000343776.5	37	c.1093		1	.	.	.	.	.	.	.	.	.	.	C	4.388	0.071582	0.08436	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.36878	1.23;1.72	1.62	-3.25	0.05079	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48786	0.1519	M	0.69463	2.115	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.41448	-0.9508	9	0.62326	D	0.03	.	4.5004	0.11862	0.5705:0.2381:0.1914:0.0	.	310	Q5SXM1	ZN678_HUMAN	C	310;365	ENSP00000344828:R310C;ENSP00000440403:R365C	ENSP00000344828:R310C	R	+	1	0	ZNF678	225909502	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-3.700000	0.00389	-0.792000	0.04480	-1.297000	0.01338	CGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	protein_coding	OTTHUMT00000091976.2	C	NM_178549	-		227842879	1	no_errors	ENST00000397097	ensembl	human	known	74_37	missense	SNP	0.000	T	T	227842879	C	T	227842879	3	4	203	1	0	0	0	0	1	0	0	0	18092	884	31	1	1107	1	ZNF678	1	227842879	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1792912	227842879	21407742	42	16072											
C1orf69	200205	genome.wustl.edu	37	chr1	228362717	228362717	+	Silent	SNP	C	C	T													ttgtgggattatcaccagcaCcgatacctgcaaggtatggg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:228362717C>T	ENST00000366711.3	+	2	668	c.666C>T	c.(664-666)caC>caT	p.H222H	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.H29H	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	222					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						ATCACCAGCACCGATACCTGC	0.652																																																	0								ENSG00000181873						24	27	26					1																	228362717		2201	4299	6500	IBA57	SO:0001819	synonymous_variant	0			-	HGNC	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.666C>T	1.37:g.228362717C>T		Somatic	0	73	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53		Silent	SNP							pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.H222	ENST00000366711.3	37	c.666	CCDS31046.1	1																																																																																			-	pfam_GCV_T_N,tigrfam_YgfZ/GcvT_CS		0.652	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	protein_coding	OTTHUMT00000095980.1	C	NM_001010867	-		228362717	1	no_errors	ENST00000366711	ensembl	human	known	74_37	silent	SNP	1.000	T	T	228362717	C	T	228362717	2	4	203	1	0	0	0	0	0	0	0	1	2059	506	18	2		2	C1orf69	1	228362717	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	519838	228362717	20887904	43	16073	402	2									
C1orf69	200205	genome.wustl.edu	37	chr1	228362718	228362718	+	Nonsense_Mutation	SNP	C	C	T													tgtgggattatcaccagcacCgatacctgcaaggtatgggt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:228362718C>T	ENST00000366711.3	+	2	669	c.667C>T	c.(667-669)Cga>Tga	p.R223*	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Nonsense_Mutation_p.R30*	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	223					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						TCACCAGCACCGATACCTGCA	0.647																																																	0								ENSG00000181873						24	27	26					1																	228362718		2201	4299	6500	IBA57	SO:0001587	stop_gained	0			-	HGNC	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.667C>T	1.37:g.228362718C>T	ENSP00000355672:p.Arg223*	Somatic	0	72	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53		Nonsense_Mutation	SNP							pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.R223*	ENST00000366711.3	37	c.667	CCDS31046.1	1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554450	0.65425	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	.	.	.	5.07	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3565	8.6573	0.34071	0.2032:0.71:0.0:0.0868	.	.	.	.	X	223;30	.	ENSP00000355672:R223X	R	+	1	2	IBA57	226429341	1.000000	0.71417	0.903000	0.35520	0.165000	0.22458	1.921000	0.40035	1.354000	0.45846	0.655000	0.94253	CGA	-	pfam_GCV_T_N,tigrfam_YgfZ/GcvT_CS		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	protein_coding	OTTHUMT00000095980.1	C	NM_001010867	-		228362718	1	no_errors	ENST00000366711	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	228362718	C	T	228362718	4	4	203	1	0	0	0	0	0	1	0	0	2059	644	23	1	673	1	C1orf69	1	228362718	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	228362718	20887903	44	16074	402	2									
OBSCN	84033	genome.wustl.edu	37	chr1	228466451	228466451	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatggagaagcaccgcggTgtgctggagtgtcaggtgtc	17	9	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:228466451T>G	ENST00000422127.1	+	26	6965	c.6921T>G	c.(6919-6921)ggT>ggG	p.G2307G	RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.G2736G|OBSCN_ENST00000284548.11_Silent_p.G2307G|OBSCN_ENST00000359599.6_Silent_p.G1154G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2307	Ig-like 23.				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)				AGCACCGCGGTGTGCTGGAGT	0.657																																																	0								ENSG00000154358						44	53	50					1																	228466451		2102	4224	6326	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.6921T>G	1.37:g.228466451T>G		Somatic	0	61	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G2307	ENST00000422127.1	37	c.6921	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		T	NM_052843	-		228466451	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.000	G	G	228466451	T	G	228466451	2	3	203	1	0	0	0	0	0	0	0	1	10814	1683	59	5		5	OBSCN	1	228466451	Silent	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	103733	228466451	20784170	45	16075											
LYST	1130	genome.wustl.edu	37	chr1	235929492	235929492	+	Missense_Mutation	SNP	G	G	A													tcaataattccaaatctggaGgagatccaaggacttctgct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:235929492G>A	ENST00000389794.3	-	21	6182	c.6008C>T	c.(6007-6009)cCt>cTt	p.P2003L	LYST_ENST00000389793.2_Missense_Mutation_p.P2003L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2003					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAATCTGGAGGAGATCCAAG	0.378																																																	0								ENSG00000143669						161	176	171					1																	235929492		2203	4300	6503	LYST	SO:0001583	missense	0			-	HGNC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6008C>T	1.37:g.235929492G>A	ENSP00000374444:p.Pro2003Leu	Somatic	0	41	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2003L	ENST00000389794.3	37	c.6008	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.126832	0.94429	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.75260	-0.92;-0.92	5.36	5.36	0.76844	.	0.109062	0.64402	D	0.000007	D	0.85031	0.5604	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	D	0.86170	0.1599	10	0.87932	D	0	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	2003	Q99698	LYST_HUMAN	L	2003	ENSP00000374444:P2003L;ENSP00000374443:P2003L	ENSP00000374443:P2003L	P	-	2	0	LYST	233996115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.534000	0.98061	2.669000	0.90835	0.585000	0.79938	CCT	-	superfamily_ARM-type_fold		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	G		-		235929492	-1	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	SNP	1.000	A	A	235929492	G	A	235929492	3	1	203	1	0	0	0	0	1	0	0	0	9130	1000	35	2	5529	2	LYST	1	235929492	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	7463041	235929492	13321129	46	16076	403	2									
LYST	1130	genome.wustl.edu	37	chr1	235929493	235929493	+	Missense_Mutation	SNP	G	G	A													caataattccaaatctggagGagatccaaggacttctgcta							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:235929493G>A	ENST00000389794.3	-	21	6181	c.6007C>T	c.(6007-6009)Cct>Tct	p.P2003S	LYST_ENST00000389793.2_Missense_Mutation_p.P2003S|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2003					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAATCTGGAGGAGATCCAAGG	0.378																																																	0								ENSG00000143669						161	176	171					1																	235929493		2203	4300	6503	LYST	SO:0001583	missense	0			-	HGNC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6007C>T	1.37:g.235929493G>A	ENSP00000374444:p.Pro2003Ser	Somatic	0	41	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2003S	ENST00000389794.3	37	c.6007	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.364678	0.95877	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.74947	-0.89;-0.89	5.36	5.36	0.76844	.	0.109062	0.64402	D	0.000007	D	0.84000	0.5376	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	P	0.60415	0.874	D	0.85305	0.1075	10	0.72032	D	0.01	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	2003	Q99698	LYST_HUMAN	S	2003	ENSP00000374444:P2003S;ENSP00000374443:P2003S	ENSP00000374443:P2003S	P	-	1	0	LYST	233996116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.534000	0.98061	2.669000	0.90835	0.585000	0.79938	CCT	-	superfamily_ARM-type_fold		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	G		-		235929493	-1	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	SNP	1.000	A	A	235929493	G	A	235929493	3	1	203	1	0	0	0	0	1	0	0	0	9130	1174	41	2	5530	2	LYST	1	235929493	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	235929493	13321128	47	16077	403	2									
RYR2	6262	genome.wustl.edu	37	chr1	237730046	237730046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaggagcttggctcagatGaacgtgcctttgcctttgat	11	9	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:237730046G>A	ENST00000366574.2	+	28	3711	c.3394G>A	c.(3394-3396)Gaa>Aaa	p.E1132K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1130K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1116K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1132	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGCTCAGATGAACGTGCCTT	0.532																																																	0								ENSG00000198626						199	198	198					1																	237730046		2088	4217	6305	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3394G>A	1.37:g.237730046G>A	ENSP00000355533:p.Glu1132Lys	Somatic	0	55	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1130K	ENST00000366574.2	37	c.3388	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512797	0.85389	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.70399	-0.48;-0.48;-0.48	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.260768	0.29861	N	0.011009	T	0.64875	0.2638	L	0.33189	0.99	0.80722	D	1	B	0.33777	0.425	B	0.34418	0.182	T	0.68006	-0.5523	10	0.72032	D	0.01	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1132	Q92736	RYR2_HUMAN	K	1132;1130;1116	ENSP00000355533:E1132K;ENSP00000353174:E1130K;ENSP00000443798:E1116K	ENSP00000353174:E1130K	E	+	1	0	RYR2	235796669	1.000000	0.71417	0.571000	0.28486	0.905000	0.53344	9.864000	0.99589	2.465000	0.83290	0.655000	0.94253	GAA	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237730046	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	A	A	237730046	G	A	237730046	3	1	203	1	0	0	0	0	1	0	0	0	13777	1291	45	2	3504	2	RYR2	1	237730046	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1800553	237730046	11520575	48	16078											
RYR2	6262	genome.wustl.edu	37	chr1	237754098	237754098	+	Silent	SNP	C	C	T													aagacggtggctggagggctCcctggggctggcctttttgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:237754098C>T	ENST00000366574.2	+	31	4283	c.3966C>T	c.(3964-3966)ctC>ctT	p.L1322L	RYR2_ENST00000360064.6_Silent_p.L1320L|RYR2_ENST00000542537.1_Silent_p.L1306L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1322	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGAGGGCTCCCTGGGGCTG	0.512																																																	0								ENSG00000198626						113	110	111					1																	237754098		1923	4134	6057	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3966C>T	1.37:g.237754098C>T		Somatic	0	46	0		0.41568620468393	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q15411|Q546N8|Q5T3P2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L1320	ENST00000366574.2	37	c.3960	CCDS55691.1	1																																																																																			-	NULL		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035	-		237754098	1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	0.088	T	T	237754098	C	T	237754098	2	4	203	1	0	0	0	0	0	0	0	1	13777	842	30	2		2	RYR2	1	237754098	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	24052	237754098	11496523	49	16079	404	2									
RYR2	6262	genome.wustl.edu	37	chr1	237754099	237754099	+	Missense_Mutation	SNP	C	C	T													agacggtggctggagggctcCctggggctggcctttttggg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:237754099C>T	ENST00000366574.2	+	31	4284	c.3967C>T	c.(3967-3969)Cct>Tct	p.P1323S	RYR2_ENST00000360064.6_Missense_Mutation_p.P1321S|RYR2_ENST00000542537.1_Missense_Mutation_p.P1307S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1323	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAGGGCTCCCTGGGGCTGG	0.512																																																	0								ENSG00000198626						112	109	110					1																	237754099		1921	4134	6055	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3967C>T	1.37:g.237754099C>T	ENSP00000355533:p.Pro1323Ser	Somatic	0	45	0		0.41568620468393	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.P1321S	ENST00000366574.2	37	c.3961	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.455900	0.43634	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96554	-4.05;-4.02;-4.04	5.23	4.32	0.51571	.	0.126422	0.35585	N	0.003103	D	0.88840	0.6546	N	0.03608	-0.345	0.58432	D	0.999999	P	0.47762	0.9	B	0.39419	0.299	D	0.89653	0.3871	10	0.36615	T	0.2	.	14.1028	0.65068	0.0:0.9279:0.0:0.0721	.	1323	Q92736	RYR2_HUMAN	S	1323;1321;1307	ENSP00000355533:P1323S;ENSP00000353174:P1321S;ENSP00000443798:P1307S	ENSP00000353174:P1321S	P	+	1	0	RYR2	235820722	0.975000	0.34042	0.443000	0.26883	0.989000	0.77384	3.216000	0.51176	1.576000	0.49790	0.655000	0.94253	CCT	-	NULL		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035	-		237754099	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	0.453	T	T	237754099	C	T	237754099	3	4	203	1	0	0	0	0	1	0	0	0	13777	623	22	2	4089	2	RYR2	1	237754099	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	237754099	11496522	50	16080	404	2									
OR2M2	391194	genome.wustl.edu	37	chr1	248343813	248343813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtctcgggaaatagccCacttcttctgtgaattccct	10	11	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr1:248343813C>T	ENST00000359682.2	+	1	526	c.526C>T	c.(526-528)Cac>Tac	p.H176Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	176						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)			GGAAATAGCCCACTTCTTCTG	0.418																																																	0								ENSG00000198601						234	229	231					1																	248343813		2203	4300	6503	OR2M2	SO:0001583	missense	0			-	HGNC	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.526C>T	1.37:g.248343813C>T	ENSP00000352710:p.His176Tyr	Somatic	0	110	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.54	A3KFT4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H176Y	ENST00000359682.2	37	c.526	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.149317	0.37923	.	.	ENSG00000198601	ENST00000359682	T	0.00183	8.6	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	U	0.006772	T	0.00608	0.0020	M	0.90252	3.1	0.21675	N	0.999599	D	0.69078	0.997	D	0.68943	0.961	T	0.19844	-1.0293	10	0.87932	D	0	.	11.6433	0.51246	0.0:1.0:0.0:0.0	.	176	Q96R28	OR2M2_HUMAN	Y	176	ENSP00000352710:H176Y	ENSP00000352710:H176Y	H	+	1	0	OR2M2	246410436	0.018000	0.18449	0.216000	0.23742	0.030000	0.12068	1.779000	0.38624	1.056000	0.40484	0.454000	0.30748	CAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.418	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	protein_coding	OTTHUMT00000097356.2	C	NM_001004688	-		248343813	1	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	SNP	0.985	T	T	248343813	C	T	248343813	3	4	203	1	0	0	0	0	1	0	0	0	11012	594	21	2	528	2	OR2M2	1	248343813	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	10589714	248343813	906808	51	16081											
IFT172	26160	genome.wustl.edu	37	chr2	27682296	27682296	+	Silent	SNP	G	G	A													gccacgagaggatagtatttGgatgcagtgttccggtcctg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:27682296G>A	ENST00000260570.3	-	25	2839	c.2736C>T	c.(2734-2736)tcC>tcT	p.S912S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	912					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GATAGTATTTGGATGCAGTGT	0.517																																																	0								ENSG00000138002						113	99	104					2																	27682296		2203	4300	6503	IFT172	SO:0001819	synonymous_variant	0			-	HGNC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2736C>T	2.37:g.27682296G>A		Somatic	0	39	0		0.41568620468393	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.S912	ENST00000260570.3	37	c.2736	CCDS1755.1	2																																																																																			-	NULL		0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	protein_coding	OTTHUMT00000250213.2	G	NM_015662	-		27682296	-1	no_errors	ENST00000260570	ensembl	human	known	74_37	silent	SNP	1.000	A	A	27682296	G	A	27682296	2	1	203	1	0	0	0	0	0	0	0	1	7559	1335	47	2		2	IFT172	2	27682296	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		27682296	215517077	52	16082	405	2									
IFT172	26160	genome.wustl.edu	37	chr2	27682297	27682297	+	Missense_Mutation	SNP	G	G	A													ccacgagaggatagtatttgGatgcagtgttccggtcctgt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:27682297G>A	ENST00000260570.3	-	25	2838	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	912					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATAGTATTTGGATGCAGTGTT	0.517																																																	0								ENSG00000138002						113	99	104					2																	27682297		2203	4300	6503	IFT172	SO:0001583	missense	0			-	HGNC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2735C>T	2.37:g.27682297G>A	ENSP00000260570:p.Ser912Phe	Somatic	0	39	0		0.41568620468393	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.S912F	ENST00000260570.3	37	c.2735	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695806	0.48202	.	.	ENSG00000138002	ENST00000260570	T	0.66460	-0.21	5.93	5.04	0.67666	Tetratricopeptide-like helical (1);	0.218844	0.45361	D	0.000362	T	0.48750	0.1517	N	0.03608	-0.345	0.80722	D	1	B	0.25667	0.131	B	0.33690	0.168	T	0.52968	-0.8504	10	0.59425	D	0.04	-7.1097	14.124	0.65208	0.0:0.1502:0.8498:0.0	.	912	Q9UG01	IF172_HUMAN	F	912	ENSP00000260570:S912F	ENSP00000260570:S912F	S	-	2	0	IFT172	27535801	0.988000	0.35896	0.999000	0.59377	0.811000	0.45836	2.384000	0.44362	1.473000	0.48159	0.655000	0.94253	TCC	-	NULL		0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	protein_coding	OTTHUMT00000250213.2	G	NM_015662	-		27682297	-1	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27682297	G	A	27682297	3	1	203	1	0	0	0	0	1	0	0	0	7559	1174	41	2	2610	2	IFT172	2	27682297	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	27682297	215517076	53	16083	405	2									
EHD3	30845	genome.wustl.edu	37	chr2	31484465	31484465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggagatgccctcggtgttCgggaaggacaacaagaagaa	14	7	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:31484465C>A	ENST00000322054.5	+	5	1251	c.966C>A	c.(964-966)ttC>ttA	p.F322L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	322					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCTCGGTGTTCGGGAAGGACA	0.567																																																	0								ENSG00000013016						147	135	139					2																	31484465		2203	4300	6503	EHD3	SO:0001583	missense	0			-	HGNC	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.966C>A	2.37:g.31484465C>A	ENSP00000327116:p.Phe322Leu	Somatic	0	61	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP							pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.F322L	ENST00000322054.5	37	c.966	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436097	0.62955	.	.	ENSG00000013016	ENST00000322054	T	0.19938	2.11	5.83	-8.82	0.00810	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80982	2.52	0.80722	D	1	B	0.23806	0.091	B	0.31101	0.124	T	0.28138	-1.0053	10	0.59425	D	0.04	-17.3813	21.6523	0.99958	0.0:0.0982:0.0:0.9018	.	322	Q9NZN3	EHD3_HUMAN	L	322	ENSP00000327116:F322L	ENSP00000327116:F322L	F	+	3	2	EHD3	31337969	0.276000	0.24211	0.322000	0.25334	0.899000	0.52679	-0.396000	0.07278	-1.997000	0.00969	-0.258000	0.10820	TTC	-	superfamily_P-loop_NTPase		0.567	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	protein_coding	OTTHUMT00000216810.1	C	NM_014600	-		31484465	1	no_errors	ENST00000322054	ensembl	human	known	74_37	missense	SNP	0.751	A	A	31484465	C	A	31484465	3	1	203	1	0	0	0	0	1	0	0	0	4981	883	31	3	984	3	EHD3	2	31484465	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3802168	31484465	211714908	54	16084											
EFEMP1	2202	genome.wustl.edu	37	chr2	56094300	56094300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgtcagcatctccaggtCcacgatatgttctcttggtc	9	12	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:56094300C>T	ENST00000394555.2	-	11	1825	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	EFEMP1_ENST00000355426.3_Missense_Mutation_p.D464N|EFEMP1_ENST00000394554.1_Missense_Mutation_p.D464N|EFEMP1_ENST00000424836.2_Missense_Mutation_p.D326N	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	464	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATCTCCAGGTCCACGATATGT	0.408																																					GBM(92;934 1319 7714 28760 40110)												0								ENSG00000115380						121	104	110					2																	56094300		2203	4300	6503	EFEMP1	SO:0001583	missense	0			-	HGNC	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1390G>A	2.37:g.56094300C>T	ENSP00000378058:p.Asp464Asn	Somatic	0	69	0		0.41568620468393	205	5.96	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.D464N	ENST00000394555.2	37	c.1390	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225947	0.58668	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;T;D	0.84800	-1.9;-1.9;-1.36;-1.9	5.28	4.4	0.53042	.	0.000000	0.64402	D	0.000006	D	0.86422	0.5929	L	0.59436	1.845	0.58432	D	0.999995	D;P	0.59357	0.985;0.742	P;P	0.50352	0.638;0.47	D	0.87307	0.2309	10	0.59425	D	0.04	.	14.0486	0.64719	0.0:0.9266:0.0:0.0734	.	326;464	B4DW75;Q12805	.;FBLN3_HUMAN	N	464;464;320;326;464	ENSP00000378058:D464N;ENSP00000378057:D464N;ENSP00000399145:D326N;ENSP00000347596:D464N	ENSP00000347596:D464N	D	-	1	0	EFEMP1	55947804	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.776000	0.85560	1.358000	0.45922	0.591000	0.81541	GAC	-	NULL		0.408	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	protein_coding	OTTHUMT00000251491.2	C		-		56094300	-1	no_errors	ENST00000355426	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56094300	C	T	56094300	3	4	203	1	0	0	0	0	1	0	0	0	4943	855	30	2	95	2	EFEMP1	2	56094300	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	24609835	56094300	187105073	55	16085											
OTX1	5013	genome.wustl.edu	37	chr2	63281318	63281318	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcaagatcaacctgccGgagtctagagtccaggtgcg	13	12	3	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:63281318G>T	ENST00000282549.2	+	4	510	c.234G>T	c.(232-234)ccG>ccT	p.P78P	OTX1_ENST00000366671.3_Silent_p.P78P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	78					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TCAACCTGCCGGAGTCTAGAG	0.617																																																	0								ENSG00000115507						81	79	80					2																	63281318		2203	4300	6503	OTX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.234G>T	2.37:g.63281318G>T		Somatic	0	38	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6NHA2|B3KTJ4|Q53TG6	Silent	SNP							pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF	p.P78	ENST00000282549.2	37	c.234	CCDS1873.1	2																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.617	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX1	protein_coding	OTTHUMT00000251617.1	G		-		63281318	1	no_errors	ENST00000282549	ensembl	human	known	74_37	silent	SNP	0.000	T	T	63281318	G	T	63281318	2	4	203	1	0	0	0	0	0	0	0	1	11322	1103	39	3		3	OTX1	2	63281318	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	7187018	63281318	179918055	56	16086											
MPHOSPH10	10199	genome.wustl.edu	37	chr2	71360032	71360032	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taattcctcccaataggattCaagagggattggcatcaaag	9	8	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:71360032C>T	ENST00000244230.2	+	2	446	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	MPHOSPH10_ENST00000498451.2_Nonsense_Mutation_p.Q32*|MPHOSPH10_ENST00000468427.1_3'UTR|MCEE_ENST00000244217.5_5'Flank	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	32					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CAATAGGATTCAAGAGGGATT	0.308																																																	0								ENSG00000124383						35	40	39					2																	71360032		2072	4218	6290	MPHOSPH10	SO:0001587	stop_gained	0			-	HGNC	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.94C>T	2.37:g.71360032C>T	ENSP00000244230:p.Gln32*	Somatic	0	85	0		0.41568620468393	19	24	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	66	17.50	A0AVJ8	Nonsense_Mutation	SNP							pfam_Mpp10,pirsf_snoRNP_Mpp10	p.Q32*	ENST00000244230.2	37	c.94	CCDS1916.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.256829	0.98168	.	.	ENSG00000124383	ENST00000244230	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.6902	0.69080	0.0:1.0:0.0:0.0	.	.	.	.	X	32	.	ENSP00000244230:Q32X	Q	+	1	0	MPHOSPH10	71213540	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.251000	0.78297	2.403000	0.81681	0.555000	0.69702	CAA	-	pfam_Mpp10,pirsf_snoRNP_Mpp10		0.308	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	protein_coding	OTTHUMT00000251924.2	C	NM_005791	-		71360032	1	no_errors	ENST00000244230	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	71360032	C	T	71360032	4	4	203	1	0	0	0	0	0	1	0	0	9727	827	29	2	100	2	MPHOSPH10	2	71360032	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	8078714	71360032	171839341	57	16087											
SLC4A5	57835	genome.wustl.edu	37	chr2	74480151	74480151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaatccggatatttggGtcccattctccaggaggaag	12	10	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:74480151G>A	ENST00000377634.4	-	15	1617	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.D406D|SLC4A5_ENST00000357822.5_Silent_p.D406D|SLC4A5_ENST00000346834.4_Silent_p.D406D|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.D406D|SLC4A5_ENST00000377632.1_Silent_p.D406D|SLC4A5_ENST00000359484.4_Silent_p.D342D|SLC4A5_ENST00000358683.4_Silent_p.D342D					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGATATTTGGGTCCCATTCTC	0.517																																																	0								ENSG00000188687						70	67	68					2																	74480151		2203	4300	6503	SLC4A5	SO:0001819	synonymous_variant	0			-	HGNC	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1218C>T	2.37:g.74480151G>A		Somatic	0	91	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92		Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.D406	ENST00000377634.4	37	c.1218	CCDS1936.1	2																																																																																			-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk		0.517	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	G		-		74480151	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74480151	G	A	74480151	2	1	203	1	0	0	0	0	0	0	0	1	14665	1252	44	2		2	SLC4A5	2	74480151	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3120119	74480151	168719222	58	16088											
DQX1	165545	genome.wustl.edu	37	chr2	74752172	74752172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtgcagtcctcctggGggatgctgtatccaacctca	11	15	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:74752172G>A	ENST00000404568.3	-	3	614	c.395C>T	c.(394-396)cCc>cTc	p.P132L	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Missense_Mutation_p.P132L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	132	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTCCTCCTGGGGGATGCTGTA	0.577																																																	0								ENSG00000144045						84	87	86					2																	74752172		2203	4300	6503	DQX1	SO:0001583	missense	0			-	HGNC	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.395C>T	2.37:g.74752172G>A	ENSP00000384621:p.Pro132Leu	Somatic	0	77	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q6B017|Q8NAM8	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.P132L	ENST00000404568.3	37	c.395	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830297	0.71258	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.33438	1.41;1.41;1.41	5.21	5.21	0.72293	DEAD-like helicase (2);	0.069769	0.56097	D	0.000022	T	0.54581	0.1867	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.57195	-0.7853	10	0.87932	D	0	-10.2521	16.2783	0.82656	0.0:0.0:1.0:0.0	.	132	Q8TE96	DQX1_HUMAN	L	132;132;14	ENSP00000377523:P132L;ENSP00000384621:P132L;ENSP00000392969:P14L	ENSP00000377523:P132L	P	-	2	0	DQX1	74605680	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.933000	0.63484	2.694000	0.91930	0.655000	0.94253	CCC	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.577	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	protein_coding	OTTHUMT00000252230.3	G	NM_133637	-		74752172	-1	no_errors	ENST00000393951	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74752172	G	A	74752172	3	1	203	1	0	0	0	0	1	0	0	0	4753	1232	43	2	1798	2	DQX1	2	74752172	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	272021	74752172	168447201	59	16089											
LOXL3	84695	genome.wustl.edu	37	chr2	74776523	74776523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccgcgttgaccctctttTcgctggggaagcccagcatc	12	14	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:74776523T>G	ENST00000264094.3	-	4	736	c.665A>C	c.(664-666)gAa>gCa	p.E222A	LOXL3_ENST00000409249.1_Missense_Mutation_p.E222A|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.E222A|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000484369.1_5'UTR	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	222	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GACCCTCTTTTCGCTGGGGAA	0.652																																																	0								ENSG00000115318						18	19	19					2																	74776523		2203	4300	6503	LOXL3	SO:0001583	missense	0			-	HGNC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.665A>C	2.37:g.74776523T>G	ENSP00000264094:p.Glu222Ala	Somatic	0	101	0		0.41568620468393	10	28.57	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP							pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.E222A	ENST00000264094.3	37	c.665	CCDS1953.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.87|18.87	3.715669|3.715669	0.68844|0.68844	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469|ENST00000420535	T;T;T;T|.	0.55413|.	0.52;0.52;0.52;0.52|.	5.11|5.11	3.93|3.93	0.45458|0.45458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);|.	0.153563|.	0.56097|.	D|.	0.000022|.	T|T	0.30479|0.30479	0.0766|0.0766	N|N	0.04116|0.04116	-0.275|-0.275	0.80722|0.80722	D|D	1|1	P;P|.	0.41420|.	0.722;0.749|.	B;P|.	0.45753|.	0.42;0.492|.	T|T	0.07271|0.07271	-1.0781|-1.0781	10|5	0.02654|.	T|.	1|.	.|.	10.1492|10.1492	0.42782|0.42782	0.0:0.0:0.1682:0.8318|0.0:0.0:0.1682:0.8318	.|.	222;222|.	E7END4;P58215|.	.;LOXL3_HUMAN|.	A|Q	222|22	ENSP00000264094:E222A;ENSP00000387103:E222A;ENSP00000386696:E222A;ENSP00000398260:E222A|.	ENSP00000264094:E222A|.	E|K	-|-	2|1	0|0	LOXL3|LOXL3	74630031|74630031	1.000000|1.000000	0.71417|0.71417	0.207000|0.207000	0.23584|0.23584	0.981000|0.981000	0.71138|0.71138	4.969000|4.969000	0.63735|0.63735	0.926000|0.926000	0.37118|0.37118	0.460000|0.460000	0.39030|0.39030	GAA|AAA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.652	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	protein_coding	OTTHUMT00000252215.1	T	NM_032603	-		74776523	-1	no_errors	ENST00000264094	ensembl	human	known	74_37	missense	SNP	0.996	G	G	74776523	T	G	74776523	3	3	203	1	0	0	0	0	1	0	0	0	8903	1783	62	5	1640	5	LOXL3	2	74776523	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	24351	74776523	168422850	60	16090											
USP39	10713	genome.wustl.edu	37	chr2	85866379	85866379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgagtaccaggagacaatGgtggagtccacttttatgta	12	7	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:85866379G>T	ENST00000323701.6	+	9	1159	c.1149G>T	c.(1147-1149)atG>atT	p.M383I	USP39_ENST00000409470.1_Missense_Mutation_p.M383I|USP39_ENST00000409025.1_Missense_Mutation_p.M383I|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.M280I|USP39_ENST00000409766.3_Missense_Mutation_p.M383I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	383	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGAGACAATGGTGGAGTCCA	0.488																																																	0								ENSG00000168883						131	113	119					2																	85866379		2203	4300	6503	USP39	SO:0001583	missense	0			-	HGNC	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1149G>T	2.37:g.85866379G>T	ENSP00000312981:p.Met383Ile	Somatic	0	78	0		0.41568620468393	77	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.M383I	ENST00000323701.6	37	c.1149	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740362	0.49045	.	.	ENSG00000168883	ENST00000450066;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.27104	1.69;4.26;1.69;1.69;1.69	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	N	0.02379	-0.575	0.58432	D	0.999998	B;B;B;B;B;B	0.13594	0.004;0.001;0.003;0.008;0.004;0.004	B;B;B;B;B;B	0.18871	0.001;0.001;0.007;0.023;0.013;0.001	T	0.19647	-1.0299	10	0.25751	T	0.34	-10.774	17.4249	0.87524	0.0:0.0:1.0:0.0	.	280;305;383;383;383;383	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	I	280;383;383;383;383	ENSP00000396133:M280I;ENSP00000386572:M383I;ENSP00000386864:M383I;ENSP00000312981:M383I;ENSP00000386803:M383I	ENSP00000312981:M383I	M	+	3	0	USP39	85719890	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.477000	0.81069	2.721000	0.93114	0.655000	0.94253	ATG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.488	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	protein_coding	OTTHUMT00000329892.1	G	NM_006590	-		85866379	1	no_errors	ENST00000409470	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85866379	G	T	85866379	3	4	203	1	0	0	0	0	1	0	0	0	17077	1348	47	3	1183	3	USP39	2	85866379	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	11089856	85866379	157332994	61	16091											
AFF3	3899	genome.wustl.edu	37	chr2	100209981	100209981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctaggaccactgcccccGttggcagcggcctccttcag	11	18	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:100209981G>A	ENST00000409236.2	-	13	2254	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	AFF3_ENST00000409579.1_Silent_p.N739N|AFF3_ENST00000317233.4_Silent_p.N714N|AFF3_ENST00000356421.2_Silent_p.N739N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	714					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGCCCCCGTTGGCAGCGG	0.627																																																	0								ENSG00000144218						55	60	58					2																	100209981		2203	4299	6502	AFF3	SO:0001819	synonymous_variant	0			-	HGNC	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2142C>T	2.37:g.100209981G>A		Somatic	0	52	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP							pfam_TF_AF4/FMR2	p.N739	ENST00000409236.2	37	c.2217	CCDS42723.1	2																																																																																			-	pfam_TF_AF4/FMR2		0.627	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	protein_coding	OTTHUMT00000328982.3	G	NM_002285	-		100209981	-1	no_errors	ENST00000356421	ensembl	human	known	74_37	silent	SNP	0.002	A	A	100209981	G	A	100209981	2	1	203	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100209981	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14343602	100209981	142989392	62	16092											
NPHP1	4867	genome.wustl.edu	37	chr2	110917745	110917745	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggcgtacatgtctgctgaGaacctgtatgctcattcctg	11	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:110917745G>A	ENST00000393272.3	-	11	1304	c.1207C>T	c.(1207-1209)Ctc>Ttc	p.L403F	NPHP1_ENST00000316534.4_Missense_Mutation_p.L404F|NPHP1_ENST00000445609.2_Missense_Mutation_p.L348F|NPHP1_ENST00000355301.4_Missense_Mutation_p.L285F|NPHP1_ENST00000417665.1_Missense_Mutation_p.L347F	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	403					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGTCTGCTGAGAACCTGTATG	0.373																																																	0								ENSG00000144061						124	120	121					2																	110917745		2203	4300	6503	NPHP1	SO:0001583	missense	0			-	HGNC	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1207C>T	2.37:g.110917745G>A	ENSP00000376953:p.Leu403Phe	Somatic	0	90	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33	O14837	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L404F	ENST00000393272.3	37	c.1210	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354466	0.82243	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	M	0.65975	2.015	0.80722	D	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	D	0.87827	0.2642	10	0.72032	D	0.01	-15.8168	17.3512	0.87324	0.0:0.0:1.0:0.0	.	347;347;285;403;348;404	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	F	404;348;403;285;347	ENSP00000313169:L404F;ENSP00000389879:L348F;ENSP00000376953:L403F;ENSP00000347452:L285F;ENSP00000402176:L347F	ENSP00000313169:L404F	L	-	1	0	NPHP1	110275034	1.000000	0.71417	0.608000	0.28969	0.984000	0.73092	4.150000	0.58098	2.685000	0.91497	0.563000	0.77884	CTC	-	NULL		0.373	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	protein_coding	OTTHUMT00000253919.3	G	NM_000272	-		110917745	-1	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	SNP	0.987	A	A	110917745	G	A	110917745	3	1	203	1	0	0	0	0	1	0	0	0	10581	942	33	2	1031	2	NPHP1	2	110917745	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	10707764	110917745	132281628	63	16093											
IL1F5	26525	genome.wustl.edu	37	chr2	113820212	113820212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcccgagaatggtggctgGaatgcccccatcacagactt	10	13	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:113820212G>A	ENST00000393200.2	+	5	587	c.426G>A	c.(424-426)tgG>tgA	p.W142*	IL36RN_ENST00000346807.3_Nonsense_Mutation_p.W142*	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	142					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGGTGGCTGGAATGCCCCCA	0.627																																																	0								ENSG00000136695						44	42	43					2																	113820212		2203	4300	6503	IL36RN	SO:0001587	stop_gained	0			-	HGNC	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"Interleukins and interleukin receptors"	15561	protein-coding gene	gene with protein product	"family of interleukin 1-delta", "interleukin-1 receptor antagonist homolog 1", "interleukin-1 HY1", "IL-1 related protein 3"	605507	"interleukin 1 family, member 5 (delta)"	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.426G>A	2.37:g.113820212G>A	ENSP00000376896:p.Trp142*	Somatic	0	62	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	A8K2I4|Q56AT9|Q7RTZ6	Nonsense_Mutation	SNP							pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_alpha/beta	p.W142*	ENST00000393200.2	37	c.426	CCDS2111.1	2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063907	0.36373	.	.	ENSG00000136695	ENST00000346807;ENST00000393200	.	.	.	4.81	2.89	0.33648	.	1.078780	0.07131	N	0.845674	.	.	.	.	.	.	0.47065	D	0.999305	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.0073	11.6017	0.51006	0.0:0.3472:0.6528:0.0	.	.	.	.	X	142	.	ENSP00000259212:W142X	W	+	3	0	IL36RN	113536683	0.152000	0.22762	0.008000	0.14137	0.006000	0.05464	1.293000	0.33353	0.634000	0.30469	0.655000	0.94253	TGG	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1		0.627	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL36RN	protein_coding	OTTHUMT00000330729.1	G	NM_173170	-		113820212	1	no_errors	ENST00000346807	ensembl	human	known	74_37	nonsense	SNP	0.012	A	A	113820212	G	A	113820212	4	1	203	1	0	0	0	0	0	1	0	0	7655	1183	41	2	440	2	IL1F5	2	113820212	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2902467	113820212	129379161	64	16094											
RABL2A	11159	genome.wustl.edu	37	chr2	114398551	114398551	+	Silent	SNP	C	C	T													cgggagttcaggccagagatCccatgcatcgtggtggccaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:114398551C>T	ENST00000393167.3	+	6	603	c.378C>T	c.(376-378)atC>atT	p.I126I	RABL2A_ENST00000409875.1_Silent_p.I126I|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.I126I|RABL2A_ENST00000393166.3_Silent_p.I126I|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	126					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGCCAGAGATCCCATGCATCG	0.517																																																	0								ENSG00000144134						47	47	47					2																	114398551		2201	4295	6496	RABL2A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"RAB, member RAS oncogene"	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.378C>T	2.37:g.114398551C>T		Somatic	0	67	0		0.41568620468393	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B7ZBD6|Q9NU37	Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I126	ENST00000393167.3	37	c.378	CCDS2118.1	2																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.517	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2A	protein_coding	OTTHUMT00000109047.2	C		-		114398551	1	no_errors	ENST00000393166	ensembl	human	known	74_37	silent	SNP	1.000	T	T	114398551	C	T	114398551	2	4	203	1	0	0	0	0	0	0	0	1	12978	845	30	2		2	RABL2A	2	114398551	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	578339	114398551	128800822	65	16095	406	2									
RABL2A	11159	genome.wustl.edu	37	chr2	114398552	114398552	+	Missense_Mutation	SNP	C	C	T													gggagttcaggccagagatcCcatgcatcgtggtggccaat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:114398552C>T	ENST00000393167.3	+	6	604	c.379C>T	c.(379-381)Cca>Tca	p.P127S	RABL2A_ENST00000409875.1_Missense_Mutation_p.P127S|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Missense_Mutation_p.P127S|RABL2A_ENST00000393166.3_Missense_Mutation_p.P127S|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	127					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GCCAGAGATCCCATGCATCGT	0.517																																																	0								ENSG00000144134						47	46	46					2																	114398552		2201	4294	6495	RABL2A	SO:0001583	missense	0			-	HGNC		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"RAB, member RAS oncogene"	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.379C>T	2.37:g.114398552C>T	ENSP00000376872:p.Pro127Ser	Somatic	0	67	0		0.41568620468393	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B7ZBD6|Q9NU37	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P127S	ENST00000393167.3	37	c.379	CCDS2118.1	2	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974544	0.53720	.	.	ENSG00000144134	ENST00000393167;ENST00000393165;ENST00000393166;ENST00000409875	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	3.14	3.14	0.36123	Small GTP-binding protein domain (1);	0.094146	0.85682	N	0.000000	D	0.89849	0.6834	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;0.975;1.0	D;P;D	0.91635	0.999;0.854;0.999	D	0.87284	0.2294	10	0.13470	T	0.59	-11.1265	12.5625	0.56291	0.0:1.0:0.0:0.0	.	127;127;127	Q6IC14;A0AUY0;Q9UBK7	.;.;RBL2A_HUMAN	S	127	ENSP00000376872:P127S;ENSP00000376870:P127S;ENSP00000376871:P127S;ENSP00000387229:P127S	ENSP00000376870:P127S	P	+	1	0	RABL2A	114115022	1.000000	0.71417	0.997000	0.53966	0.141000	0.21300	6.818000	0.75257	1.721000	0.51461	0.505000	0.49811	CCA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.517	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2A	protein_coding	OTTHUMT00000109047.2	C		-		114398552	1	no_errors	ENST00000393166	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114398552	C	T	114398552	3	4	203	1	0	0	0	0	1	0	0	0	12978	623	22	2	397	2	RABL2A	2	114398552	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	114398552	128800821	66	16096	406	2									
SCTR	6344	genome.wustl.edu	37	chr2	120223381	120223381	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccggaaagcacagaggaTgccaagggcgaccaggagca	14	11	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:120223381T>G	ENST00000019103.5	-	5	754	c.487A>C	c.(487-489)Atc>Ctc	p.I163L		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	163					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)	GCACAGAGGATGCCAAGGGCG	0.572																																																	0								ENSG00000080293						160	128	139					2																	120223381		2203	4300	6503	SCTR	SO:0001583	missense	0			-	HGNC		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.487A>C	2.37:g.120223381T>G	ENSP00000019103:p.Ile163Leu	Somatic	0	113	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	Q12961|Q13213|Q53T00	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1	p.I163L	ENST00000019103.5	37	c.487	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146410	0.37923	.	.	ENSG00000080293	ENST00000019103	T	0.52057	0.68	4.91	3.75	0.43078	GPCR, family 2-like (1);	0.220751	0.31772	N	0.007094	T	0.60843	0.2300	M	0.80183	2.485	0.30338	N	0.785953	B	0.33212	0.402	P	0.48982	0.597	T	0.64437	-0.6408	10	0.66056	D	0.02	.	7.4272	0.27107	0.0:0.1859:0.0:0.8141	.	163	P47872	SCTR_HUMAN	L	163	ENSP00000019103:I163L	ENSP00000019103:I163L	I	-	1	0	SCTR	119939851	0.997000	0.39634	1.000000	0.80357	0.045000	0.14185	2.558000	0.45879	0.899000	0.36444	0.533000	0.62120	ATC	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.572	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	protein_coding	OTTHUMT00000254198.2	T		-		120223381	-1	no_errors	ENST00000019103	ensembl	human	known	74_37	missense	SNP	1.000	G	G	120223381	T	G	120223381	3	3	203	1	0	0	0	0	1	0	0	0	13951	1464	51	5	871	5	SCTR	2	120223381	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	5824829	120223381	122975992	67	16097											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125405445	125405445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggactacgggggcagcatgGaacagctggaggccgtgatc	17	9	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:125405445G>A	ENST00000431078.1	+	13	2348	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	662	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		GGGCAGCATGGAACAGCTGGA	0.627																																																	0								ENSG00000155052						34	38	37					2																	125405445		2105	4213	6318	CNTNAP5	SO:0001583	missense	0			-	HGNC	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.1984G>A	2.37:g.125405445G>A	ENSP00000399013:p.Glu662Lys	Somatic	0	45	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.29	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E662K	ENST00000431078.1	37	c.1984	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338688	0.81911	.	.	ENSG00000155052	ENST00000431078	T	0.14144	2.53	5.2	4.32	0.51571	.	0.382971	0.21593	N	0.072070	T	0.19208	0.0461	M	0.78916	2.43	0.58432	D	0.999999	B	0.32573	0.376	B	0.30855	0.121	T	0.02167	-1.1202	10	0.39692	T	0.17	.	13.2541	0.60068	0.0771:0.0:0.9229:0.0	.	662	Q8WYK1	CNTP5_HUMAN	K	662	ENSP00000399013:E662K	ENSP00000399013:E662K	E	+	1	0	CNTNAP5	125121915	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.705000	0.98719	1.329000	0.45376	0.561000	0.74099	GAA	-	NULL		0.627	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G		-		125405445	1	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	SNP	1.000	A	A	125405445	G	A	125405445	3	1	203	1	0	0	0	0	1	0	0	0	3652	1175	41	2	2034	2	CNTNAP5	2	125405445	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5182064	125405445	117793928	68	16098											
CCNT2	905	genome.wustl.edu	37	chr2	135705305	135705305	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaacctgctctgcaacaGtctgcatcttacaaccttct	4	14	5	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:135705305G>C	ENST00000264157.5	+	7	569		c.e7-1		CCNT2_ENST00000295238.6_Splice_Site|CCNT2_ENST00000537343.1_Splice_Site	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2						cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTCTGCAACAGTCTGCATCTT	0.363																																																	0								ENSG00000082258						155	143	147					2																	135705305		2203	4300	6503	CCNT2	SO:0001630	splice_region_variant	0			-	HGNC	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.540-1G>C	2.37:g.135705305G>C		Somatic	0	56	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Splice_Site	SNP							-	e7-1	ENST00000264157.5	37	c.540-1	CCDS2174.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.74|19.74	3.884364|3.884364	0.72410|0.72410	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157|ENST00000452521	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75369	.|0.3840	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73582	.|-0.3937	.|4	.|.	.|.	.|.	.|.	19.338|19.338	0.94326|0.94326	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|2	.|.	.|.	.|Q	+|+	.|3	.|2	CCNT2|CCNT2	135421775|135421775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.727000|9.727000	0.98787|0.98787	2.575000|2.575000	0.86900|0.86900	0.591000|0.591000	0.81541|0.81541	.|CAG	-	-		0.363	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	protein_coding	OTTHUMT00000254629.1	G	NM_058241	-	Intron	135705305	1	no_errors	ENST00000264157	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	135705305	G	C	135705305	5	2	203	1	0	0	0	0	0	0	1	0	2937	1043	36	4	565	4	CCNT2	2	135705305	Splice_Site	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	10299860	135705305	107494068	69	16099											
THSD7B	80731	genome.wustl.edu	37	chr2	138414659	138414659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgttatcactacacatGgaaagcaagtctttggaaca	7	8	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:138414659G>A	ENST00000409968.1	+	24	4482	c.4304G>A	c.(4303-4305)tGg>tAg	p.W1435*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1407*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1438*|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1437						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACTACACATGGAAAGCAAGT	0.403																																																	0								ENSG00000144229						117	114	115					2																	138414659		1933	4145	6078	THSD7B	SO:0001587	stop_gained	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4304G>A	2.37:g.138414659G>A	ENSP00000387145:p.Trp1435*	Somatic	0	67	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65		Nonsense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W1438*	ENST00000409968.1	37	c.4313		2	.	.	.	.	.	.	.	.	.	.	G	45	11.586808	0.99579	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8599	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	1435;1438;1407	.	ENSP00000272643:W1438X	W	+	2	0	THSD7B	138131129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.937000	0.99478	0.650000	0.86243	TGG	-	NULL		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9	-		138414659	1	no_errors	ENST00000272643	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	138414659	G	A	138414659	4	1	203	1	0	0	0	0	0	1	0	0	15887	1357	47	2	4306	2	THSD7B	2	138414659	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2709354	138414659	104784714	70	16100											
LRP1B	53353	genome.wustl.edu	37	chr2	142238083	142238083	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtgattcaaggggcacttGatttctacctcctcgggacc	10	11	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:142238083G>A	ENST00000389484.3	-	3	1196	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	75					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)		AGGGGCACTTGATTTCTACCT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						128	115	120					2																	142238083		2203	4300	6503	LRP1B	SO:0001819	synonymous_variant	0			-	HGNC	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.225C>T	2.37:g.142238083G>A		Somatic	0	74	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q8WY29|Q8WY30|Q8WY31	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I75	ENST00000389484.3	37	c.225	CCDS2182.1	2																																																																																			-	superfamily_LDrepeatLR_classA_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		142238083	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	1.000	A	A	142238083	G	A	142238083	2	1	203	1	0	0	0	0	0	0	0	1	8957	1280	45	2		2	LRP1B	2	142238083	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3823424	142238083	100961290	71	16101											
GALNT13	114805	genome.wustl.edu	37	chr2	155252643	155252643	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttattactcacttggtgagGtatgaattatttattttggt	9	3	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:155252643G>A	ENST00000392825.3	+	10	1863		c.e10+1		GALNT13_ENST00000409237.1_Splice_Site|GALNT13_ENST00000487047.1_Splice_Site	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTTGGTGAGGTATGAATTAT	0.338																																																	0								ENSG00000144278						61	63	62					2																	155252643		2203	4300	6503	GALNT13	SO:0001630	splice_region_variant	0			-	HGNC	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1296+1G>A	2.37:g.155252643G>A		Somatic	0	93	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Splice_Site	SNP							-	e8+1	ENST00000392825.3	37	c.1296+1	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527392	0.85706	.	.	ENSG00000144278	ENST00000392825;ENST00000409237;ENST00000450838	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2651	0.87084	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT13	154960889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.626000	0.98410	2.492000	0.84095	0.650000	0.86243	.	-	-		0.338	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	protein_coding	OTTHUMT00000254870.2	G	NM_052917	-	Intron	155252643	1	no_errors	ENST00000409237	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	155252643	G	A	155252643	5	1	203	1	0	0	0	0	0	0	1	0	6213	1275	44	2	1327	2	GALNT13	2	155252643	Splice_Site	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	13014560	155252643	87946730	72	16102											
GRB14	2888	genome.wustl.edu	37	chr2	165365038	165365038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagagcattttcaggtctCggggccctcccgctttgtta	10	13	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:165365038C>T	ENST00000263915.3	-	8	1488	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	GRB14_ENST00000543549.1_Missense_Mutation_p.R230Q	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	317	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTTCAGGTCTCGGGGCCCTCC	0.463																																																	0								ENSG00000115290						77	75	76					2																	165365038		2203	4300	6503	GRB14	SO:0001583	missense	0			-	HGNC		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.950G>A	2.37:g.165365038C>T	ENSP00000263915:p.Arg317Gln	Somatic	0	32	0		0.41568620468393	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP							pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.R317Q	ENST00000263915.3	37	c.950	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.169184	0.94768	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.28895	1.99;2.01;1.59	5.84	5.84	0.93424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.059140	0.64402	D	0.000003	T	0.18841	0.0452	N	0.25485	0.75	0.80722	D	1	P;P	0.42584	0.642;0.784	B;B	0.30855	0.069;0.121	T	0.03060	-1.1077	10	0.37606	T	0.19	-7.9283	13.3536	0.60615	0.0:0.9283:0.0:0.0717	.	230;317	B7Z7F9;Q14449	.;GRB14_HUMAN	Q	317;230;272	ENSP00000263915:R317Q;ENSP00000443699:R230Q;ENSP00000416786:R272Q	ENSP00000263915:R317Q	R	-	2	0	GRB14	165073284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.485000	0.60279	2.748000	0.94277	0.650000	0.86243	CGA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.463	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	protein_coding	OTTHUMT00000255180.2	C		-		165365038	-1	no_errors	ENST00000263915	ensembl	human	known	74_37	missense	SNP	1.000	T	T	165365038	C	T	165365038	3	4	203	1	0	0	0	0	1	0	0	0	6759	884	31	1	700	1	GRB14	2	165365038	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	10112395	165365038	77834335	73	16103											
OSBPL6	114880	genome.wustl.edu	37	chr2	179260225	179260225	+	Missense_Mutation	SNP	C	C	T													agcctgggtttctaacgacaCctactgggagcttcgaaagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:179260225C>T	ENST00000190611.4	+	25	3120	c.2744C>T	c.(2743-2745)aCc>aTc	p.T915I	OSBPL6_ENST00000409631.1_Missense_Mutation_p.T879I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T940I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T879I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.T884I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T919I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	915					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTAACGACACCTACTGGGAG	0.408																																																	0								ENSG00000079156						112	114	113					2																	179260225		2203	4300	6503	OSBPL6	SO:0001583	missense	0			-	HGNC	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2744C>T	2.37:g.179260225C>T	ENSP00000190611:p.Thr915Ile	Somatic	0	117	0		0.41568620468393	19	26.92	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP							pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T919I	ENST00000190611.4	37	c.2756	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327697	0.81690	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.93	5.93	0.95920	.	0.043712	0.85682	D	0.000000	T	0.58278	0.2111	M	0.88775	2.98	0.80722	D	1	B;P;P;P;P	0.51449	0.298;0.529;0.94;0.945;0.533	B;B;P;P;B	0.54759	0.26;0.156;0.76;0.713;0.334	T	0.59757	-0.7394	10	0.39692	T	0.17	-14.9461	20.3363	0.98740	0.0:1.0:0.0:0.0	.	884;919;879;940;915	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	940;879;884;915;879;919	ENSP00000376293:T940I;ENSP00000352713:T879I;ENSP00000387248:T884I;ENSP00000190611:T915I;ENSP00000386885:T879I;ENSP00000318723:T919I	ENSP00000190611:T915I	T	+	2	0	OSBPL6	178968471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.993000	0.56987	2.814000	0.96858	0.563000	0.77884	ACC	-	pfam_Oxysterol-bd		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	protein_coding	OTTHUMT00000334393.2	C	NM_032523	-		179260225	1	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179260225	C	T	179260225	3	4	203	1	0	0	0	0	1	0	0	0	11283	507	18	2	2956	2	OSBPL6	2	179260225	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	13895187	179260225	63939148	74	16104	407	2									
OSBPL6	114880	genome.wustl.edu	37	chr2	179260226	179260226	+	Silent	SNP	C	C	T													gcctgggtttctaacgacacCtactgggagcttcgaaagga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:179260226C>T	ENST00000190611.4	+	25	3121	c.2745C>T	c.(2743-2745)acC>acT	p.T915T	OSBPL6_ENST00000409631.1_Silent_p.T879T|OSBPL6_ENST00000392505.2_Silent_p.T940T|OSBPL6_ENST00000359685.3_Silent_p.T879T|OSBPL6_ENST00000409045.3_Silent_p.T884T|OSBPL6_ENST00000315022.2_Silent_p.T919T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	915					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTAACGACACCTACTGGGAGC	0.408																																																	0								ENSG00000079156						111	113	112					2																	179260226		2203	4300	6503	OSBPL6	SO:0001819	synonymous_variant	0			-	HGNC	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2745C>T	2.37:g.179260226C>T		Somatic	0	117	0		0.41568620468393	18	28	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP							pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T919	ENST00000190611.4	37	c.2757	CCDS2277.1	2																																																																																			-	pfam_Oxysterol-bd		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	protein_coding	OTTHUMT00000334393.2	C	NM_032523	-		179260226	1	no_errors	ENST00000315022	ensembl	human	known	74_37	silent	SNP	0.998	T	T	179260226	C	T	179260226	2	4	203	1	0	0	0	0	0	0	0	1	11283	668	24	2		2	OSBPL6	2	179260226	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	179260226	63939147	75	16105	407	2									
TTN	7273	genome.wustl.edu	37	chr2	179636198	179636198	+	Splice_Site	SNP	C	C	T													gtggcttggagatggccccaCctttggaacaagagatgtac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:179636198C>T	ENST00000591111.1	-	34	8080	c.7856G>A	c.(7855-7857)gGt>gAt	p.G2619D	TTN_ENST00000342992.6_Splice_Site_p.G2619D|TTN_ENST00000359218.5_Splice_Site_p.G2573D|TTN_ENST00000460472.2_Splice_Site_p.G2573D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.G2619D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.G2573D|TTN_ENST00000360870.5_Splice_Site_p.G2619D			Q8WZ42	TITIN_HUMAN	titin	12942					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)			GATGGCCCCACCTTTGGAACA	0.408																																																	0								ENSG00000155657						90	80	83					2																	179636198		2203	4300	6503	TTN	SO:0001630	splice_region_variant	0			-	HGNC	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.7856-1G>A	2.37:g.179636198C>T		Somatic	0	93	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G2619D	ENST00000591111.1	37	c.7856		2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457479	0.84317	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	6.17	6.17	0.99709	Ribonuclease H-like (1);	.	.	.	.	T	0.69115	0.3075	M	0.77103	2.36	0.51233	D	0.99991	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.69320	-0.5176	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2573;2573;2573;2619;2619	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2619;2573;2573;2573;2573;2619	ENSP00000343764:G2619D;ENSP00000434586:G2573D;ENSP00000340554:G2573D;ENSP00000352154:G2573D;ENSP00000354117:G2619D	ENSP00000340554:G2573D	G	-	2	0	TTN	179344443	1.000000	0.71417	0.942000	0.38095	0.645000	0.38454	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT	-	superfamily_RNaseH-like_dom		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-	Missense_Mutation	179636198	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179636198	C	T	179636198	5	4	203	1	0	0	0	0	0	0	1	0	16742	521	18	2	103448	2	TTN	2	179636198	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	375972	179636198	63563175	76	16106	408	2									
TTN	7273	genome.wustl.edu	37	chr2	179636199	179636199	+	Splice_Site	SNP	C	C	T													tggcttggagatggccccacCtttggaacaagagatgtaca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:179636199C>T	ENST00000591111.1	-	34	8080		c.e34-1		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000360870.5_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						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)			ATGGCCCCACCTTTGGAACAA	0.403																																																	0								ENSG00000155657						88	79	82					2																	179636199		2203	4300	6503	TTN	SO:0001630	splice_region_variant	0			-	HGNC	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.7856-1G>A	2.37:g.179636199C>T		Somatic	0	93	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	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	Splice_Site	SNP							-	e33-1	ENST00000591111.1	37	c.7856-1		2	.	.	.	.	.	.	.	.	.	.	C	36	5.645664	0.96704	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179344444	1.000000	0.71417	0.958000	0.39756	0.633000	0.38033	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	.	-	-		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-	Intron	179636199	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	179636199	C	T	179636199	5	4	203	1	0	0	0	0	0	0	1	0	16742	695	24	2	103449	2	TTN	2	179636199	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	179636199	63563174	77	16107	408	2									
TTN	7273	genome.wustl.edu	37	chr2	179650837	179650837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctactgcagcaacaactgttGctacagcttcagcctttttt	6	12	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:179650837G>T	ENST00000591111.1	-	14	2332	c.2108C>A	c.(2107-2109)gCa>gAa	p.A703E	TTN_ENST00000342992.6_Missense_Mutation_p.A703E|TTN_ENST00000359218.5_Missense_Mutation_p.A657E|TTN_ENST00000460472.2_Missense_Mutation_p.A657E|TTN_ENST00000589042.1_Missense_Mutation_p.A703E|TTN_ENST00000342175.6_Missense_Mutation_p.A657E|TTN_ENST00000360870.5_Missense_Mutation_p.A703E			Q8WZ42	TITIN_HUMAN	titin	0					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)			AACAACTGTTGCTACAGCTTC	0.498																																																	0								ENSG00000155657						52	54	53					2																	179650837		2203	4300	6503	TTN	SO:0001583	missense	0			-	HGNC	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.2108C>A	2.37:g.179650837G>T	ENSP00000465570:p.Ala703Glu	Somatic	0	19	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A703E	ENST00000591111.1	37	c.2108		2	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524913	0.64747	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.71817	-0.6;-0.39;-0.38;-0.39;0.26;0.11	5.99	5.99	0.97316	Ribonuclease H-like (1);	.	.	.	.	T	0.80303	0.4598	L	0.36672	1.1	0.44635	D	0.997618	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.996;0.996;0.996;0.999	T	0.80732	-0.1251	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	657;657;657;703;703	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	703;657;657;657;657;703;207	ENSP00000343764:A703E;ENSP00000434586:A657E;ENSP00000340554:A657E;ENSP00000352154:A657E;ENSP00000354117:A703E;ENSP00000405517:A207E	ENSP00000340554:A657E	A	-	2	0	TTN	179359082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.353000	0.97080	2.840000	0.97914	0.655000	0.94253	GCA	-	superfamily_RNaseH-like_dom		0.498	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179650837	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179650837	G	T	179650837	3	4	203	1	0	0	0	0	1	0	0	0	16742	1319	46	3	109276	3	TTN	2	179650837	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14638	179650837	63548536	78	16108											
TTN	7273	genome.wustl.edu	37	chr2	179655564	179655564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagttatctcagtttcCtgtcttatctgatgtttaga	8	8	3	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:179655564C>T	ENST00000591111.1	-	11	1895	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	TTN_ENST00000342992.6_Silent_p.Q557Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.Q557Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.Q557Q			Q8WZ42	TITIN_HUMAN	titin	0					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)			TCTCAGTTTCCTGTCTTATCT	0.403																																																	0								ENSG00000155657						150	138	143					2																	179655564		2203	4300	6503	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.1671G>A	2.37:g.179655564C>T		Somatic	0	108	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	56	11.11	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q557	ENST00000591111.1	37	c.1671		2																																																																																			-	pfam_Titin_Z,superfamily_RNaseH-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179655564	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	T	T	179655564	C	T	179655564	2	4	203	1	0	0	0	0	0	0	0	1	16742	680	24	2		2	TTN	2	179655564	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4727	179655564	63543809	79	16109											
ZNF385B	151126	genome.wustl.edu	37	chr2	180307985	180307985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttgcagacgttagtacgGagcaaagaggatggaggcag	17	5	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:180307985G>A	ENST00000410066.1	-	10	2011	c.1408C>T	c.(1408-1410)Ccg>Tcg	p.P470S	ZNF385B_ENST00000409343.1_Missense_Mutation_p.P394S|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P368S|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P368S	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CGTTAGTACGGAGCAAAGAGG	0.552																																					Colon(155;204 2491 32774 51842)												0								ENSG00000144331						34	38	37					2																	180307985		2203	4299	6502	ZNF385B	SO:0001583	missense	0			-	HGNC	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1408C>T	2.37:g.180307985G>A	ENSP00000386845:p.Pro470Ser	Somatic	0	161	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	79	15.96	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.P470S	ENST00000410066.1	37	c.1408	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197723	0.58126	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.81163	-1.46;-1.14;-1.33;-1.14	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.89623	0.3850	10	0.87932	D	0	-11.6332	19.3766	0.94512	0.0:0.0:1.0:0.0	.	470;394	Q569K4;Q569K4-2	Z385B_HUMAN;.	S	470;368;394;368	ENSP00000386845:P470S;ENSP00000338225:P368S;ENSP00000386379:P394S;ENSP00000386507:P368S	ENSP00000338225:P368S	P	-	1	0	ZNF385B	180016230	1.000000	0.71417	0.496000	0.27539	0.341000	0.28922	9.258000	0.95555	2.565000	0.86533	0.561000	0.74099	CCG	-	NULL		0.552	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	protein_coding	OTTHUMT00000335972.1	G	NM_152520	-		180307985	-1	no_errors	ENST00000410066	ensembl	human	known	74_37	missense	SNP	1.000	A	A	180307985	G	A	180307985	3	1	203	1	0	0	0	0	1	0	0	0	17884	1174	41	2	11	2	ZNF385B	2	180307985	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	652421	180307985	62891388	80	16110											
DNAJC10	54431	genome.wustl.edu	37	chr2	183582840	183582840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggttaaataaagatgaCtatatcagagacttgaaaag	9	4	2	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:183582840C>T	ENST00000264065.7	+	3	442	c.27C>T	c.(25-27)gaC>gaT	p.D9D	DNAJC10_ENST00000537515.1_Silent_p.D9D|DNAJC10_ENST00000469118.1_Intron	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	9					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATAAAGATGACTATATCAGAG	0.353																																					Pancreas(56;860 1183 25669 35822 48585)												0								ENSG00000077232						95	98	97					2																	183582840		2203	4300	6503	DNAJC10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.27C>T	2.37:g.183582840C>T		Somatic	0	57	0		0.41568620468393	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP							pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin	p.D9	ENST00000264065.7	37	c.27	CCDS33345.1	2																																																																																			-	pirsf_DnaJ_homolog_subfam-C		0.353	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	protein_coding	OTTHUMT00000334418.2	C	NM_018981	-		183582840	1	no_errors	ENST00000264065	ensembl	human	known	74_37	silent	SNP	0.025	T	T	183582840	C	T	183582840	2	4	203	1	0	0	0	0	0	0	0	1	4631	564	20	2		2	DNAJC10	2	183582840	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3274855	183582840	59616533	81	16111											
DNAJC10	54431	genome.wustl.edu	37	chr2	183616418	183616418	+	Missense_Mutation	SNP	C	C	T													atatgatatacttgcctttgCcaaagaaagtgtgaattctc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:183616418C>T	ENST00000264065.7	+	15	1755	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	447	Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTGCCTTTGCCAAAGAAAGT	0.368																																					Pancreas(56;860 1183 25669 35822 48585)												0								ENSG00000077232						142	145	144					2																	183616418		2203	4300	6503	DNAJC10	SO:0001583	missense	0			-	HGNC		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1340C>T	2.37:g.183616418C>T	ENSP00000264065:p.Ala447Val	Somatic	0	90	0		0.41568620468393	14	17.65	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	50	12.28	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP							pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin	p.A447V	ENST00000264065.7	37	c.1340	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.523098	0.96431	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.19105	2.17	6.03	6.03	0.97812	Thioredoxin-like fold (4);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	T	0.01182	-1.1426	10	0.22109	T	0.4	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	401;447	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	V	447;401	ENSP00000264065:A447V	ENSP00000264065:A447V	A	+	2	0	DNAJC10	183324663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.167000	0.77562	2.854000	0.98071	0.655000	0.94253	GCC	-	superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C		0.368	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	protein_coding	OTTHUMT00000334418.2	C	NM_018981	-		183616418	1	no_errors	ENST00000264065	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183616418	C	T	183616418	3	4	203	1	0	0	0	0	1	0	0	0	4631	739	26	2	1390	2	DNAJC10	2	183616418	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	33578	183616418	59582955	82	16112	409	2									
DNAJC10	54431	genome.wustl.edu	37	chr2	183616419	183616419	+	Silent	SNP	C	C	T													tatgatatacttgcctttgcCaaagaaagtgtgaattctca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:183616419C>T	ENST00000264065.7	+	15	1756	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	447	Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGCCTTTGCCAAAGAAAGTG	0.368																																					Pancreas(56;860 1183 25669 35822 48585)												0								ENSG00000077232						143	147	145					2																	183616419		2203	4300	6503	DNAJC10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1341C>T	2.37:g.183616419C>T		Somatic	0	92	0		0.41568620468393	14	17.65	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP							pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin	p.A447	ENST00000264065.7	37	c.1341	CCDS33345.1	2																																																																																			-	superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C		0.368	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	protein_coding	OTTHUMT00000334418.2	C	NM_018981	-		183616419	1	no_errors	ENST00000264065	ensembl	human	known	74_37	silent	SNP	1.000	T	T	183616419	C	T	183616419	2	4	203	1	0	0	0	0	0	0	0	1	4631	581	21	2		2	DNAJC10	2	183616419	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	183616419	59582954	83	16113	409	2									
ZC3H15	55854	genome.wustl.edu	37	chr2	187368861	187368861	+	Missense_Mutation	SNP	C	C	T													tgtatcgtcatgcacttcctCctggatttgtgttgaaaaaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:187368861C>T	ENST00000337859.6	+	6	864	c.637C>T	c.(637-639)Cct>Tct	p.P213S	ZC3H15_ENST00000544130.1_Missense_Mutation_p.P8S|AC018867.2_ENST00000595956.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	213					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGCACTTCCTCCTGGATTTGT	0.388																																																	0								ENSG00000065548						138	127	130					2																	187368861		1835	4087	5922	ZC3H15	SO:0001583	missense	0			-	HGNC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.637C>T	2.37:g.187368861C>T	ENSP00000338788:p.Pro213Ser	Somatic	0	58	0		0.41568620468393	56	34.12	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.P213S	ENST00000337859.6	37	c.637	CCDS42791.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490604	0.84962	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.35973	1.28	5.87	5.87	0.94306	.	0.156231	0.64402	D	0.000019	T	0.54727	0.1876	M	0.79011	2.435	0.48901	D	0.999725	D	0.55605	0.972	P	0.50659	0.647	T	0.55982	-0.8054	10	0.54805	T	0.06	-11.1417	20.5827	0.99408	0.0:1.0:0.0:0.0	.	213	Q8WU90	ZC3HF_HUMAN	S	213;8;213	ENSP00000338788:P213S	ENSP00000338788:P213S	P	+	1	0	ZC3H15	187077106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.798000	0.55522	2.941000	0.99782	0.655000	0.94253	CCT	-	NULL		0.388	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	protein_coding	OTTHUMT00000334547.2	C	NM_018471	-		187368861	1	no_errors	ENST00000337859	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187368861	C	T	187368861	3	4	203	1	0	0	0	0	1	0	0	0	17574	855	30	2	659	2	ZC3H15	2	187368861	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3752442	187368861	55830512	84	16114	410	2									
ZC3H15	55854	genome.wustl.edu	37	chr2	187368862	187368862	+	Missense_Mutation	SNP	C	C	T													gtatcgtcatgcacttcctcCtggatttgtgttgaaaaaag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:187368862C>T	ENST00000337859.6	+	6	865	c.638C>T	c.(637-639)cCt>cTt	p.P213L	ZC3H15_ENST00000544130.1_Missense_Mutation_p.P8L|AC018867.2_ENST00000595956.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	213					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GCACTTCCTCCTGGATTTGTG	0.383																																																	0								ENSG00000065548						135	124	128					2																	187368862		1832	4086	5918	ZC3H15	SO:0001583	missense	0			-	HGNC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.638C>T	2.37:g.187368862C>T	ENSP00000338788:p.Pro213Leu	Somatic	0	59	0		0.41568620468393	56	34.12	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.P213L	ENST00000337859.6	37	c.638	CCDS42791.1	2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609646	0.87258	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.36878	1.23	5.87	4.98	0.66077	.	0.156231	0.64402	D	0.000019	T	0.58850	0.2151	M	0.90595	3.13	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.71616	-0.4539	10	0.72032	D	0.01	-11.1417	17.2558	0.87056	0.0:0.8742:0.1258:0.0	.	213	Q8WU90	ZC3HF_HUMAN	L	213;8;213	ENSP00000338788:P213L	ENSP00000338788:P213L	P	+	2	0	ZC3H15	187077107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.970000	0.70431	1.593000	0.50029	0.655000	0.94253	CCT	-	NULL		0.383	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	protein_coding	OTTHUMT00000334547.2	C	NM_018471	-		187368862	1	no_errors	ENST00000337859	ensembl	human	known	74_37	missense	SNP	1.000	T	T	187368862	C	T	187368862	3	4	203	1	0	0	0	0	1	0	0	0	17574	681	24	2	660	2	ZC3H15	2	187368862	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	187368862	55830511	85	16115	410	2									
PLCL1	5334	genome.wustl.edu	37	chr2	198949937	198949937	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagaagctgaaatgtctCgaaggatgtcggtagattac	12	5	1	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:198949937C>T	ENST00000428675.1	+	2	2094	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R468*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	566	Interaction with GABA A beta subunit. {ECO:0000250}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGAAATGTCTCGAAGGATGTC	0.393																																																	0								ENSG00000115896						80	78	79					2																	198949937		2203	4300	6503	PLCL1	SO:0001587	stop_gained	0			-	HGNC	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1696C>T	2.37:g.198949937C>T	ENSP00000402861:p.Arg566*	Somatic	0	78	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R566*	ENST00000428675.1	37	c.1696	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	38	6.674919	0.97755	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.51	5.51	0.81932	.	0.230919	0.31156	N	0.008142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	.	.	.	X	566;468	.	.	R	+	1	2	PLCL1	198658182	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	5.903000	0.69877	2.873000	0.98535	0.561000	0.74099	CGA	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	C	NM_006226	-		198949937	1	no_errors	ENST00000428675	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	198949937	C	T	198949937	4	4	203	1	0	0	0	0	0	1	0	0	12041	876	31	1	1702	1	PLCL1	2	198949937	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	11581075	198949937	44249436	86	16116											
SATB2	23314	genome.wustl.edu	37	chr2	200246469	200246469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagacatcttgtagcatgtCggccactgtcgcgtcgggtg	13	10	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:200246469C>T	ENST00000417098.1	-	4	1237	c.421G>A	c.(421-423)Gac>Aac	p.D141N	SATB2_ENST00000457245.1_Missense_Mutation_p.D141N|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Missense_Mutation_p.D141N|SATB2_ENST00000443023.1_Missense_Mutation_p.D82N|SATB2_ENST00000428695.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	141					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGCATGTCGGCCACTGTC	0.468																																					Colon(30;262 767 11040 24421 36230)												0								ENSG00000119042						124	115	118					2																	200246469		2203	4300	6503	SATB2	SO:0001583	missense	0			-	HGNC	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.421G>A	2.37:g.200246469C>T	ENSP00000401112:p.Asp141Asn	Somatic	0	83	0		0.41568620468393	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.D141N	ENST00000417098.1	37	c.421	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961567	0.92791	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	L	0.53249	1.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89811	0.3982	10	0.44086	T	0.13	-29.4463	19.976	0.97309	0.0:1.0:0.0:0.0	.	141	Q9UPW6	SATB2_HUMAN	N	141;82;141;141	ENSP00000401112:D141N;ENSP00000388764:D82N;ENSP00000260926:D141N;ENSP00000405420:D141N	ENSP00000260926:D141N	D	-	1	0	SATB2	199954714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	GAC	-	NULL		0.468	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	protein_coding	OTTHUMT00000256140.1	C	NM_015265	-		200246469	-1	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	SNP	1.000	T	T	200246469	C	T	200246469	3	4	203	1	0	0	0	0	1	0	0	0	13862	884	31	1	1812	1	SATB2	2	200246469	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1296532	200246469	42952904	87	16117											
MAP2	4133	genome.wustl.edu	37	chr2	210557733	210557733	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaggatgagtggggttTagttgcccccatatctcctg	11	8	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:210557733T>A	ENST00000360351.4	+	7	1345	c.839T>A	c.(838-840)tTa>tAa	p.L280*	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.L276*|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	280					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)	GAGTGGGGTTTAGTTGCCCCC	0.463																																					Pancreas(27;423 979 28787 29963)												0								ENSG00000078018						51	52	52					2																	210557733		2203	4300	6503	MAP2	SO:0001587	stop_gained	0			-	HGNC		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.839T>A	2.37:g.210557733T>A	ENSP00000353508:p.Leu280*	Somatic	0	57	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP							pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.L280*	ENST00000360351.4	37	c.839	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810152	0.70797	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	.	.	.	5.94	4.81	0.61882	.	0.430258	0.19925	N	0.102988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0767	3.8036	0.08768	0.0:0.2181:0.0:0.7819	.	.	.	.	X	280;362;276	.	ENSP00000353508:L280X	L	+	2	0	MAP2	210265978	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.629000	0.46485	2.286000	0.76751	0.529000	0.55759	TTA	-	NULL		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	T	NM_001039538	-		210557733	1	no_errors	ENST00000360351	ensembl	human	known	74_37	nonsense	SNP	0.993	A	A	210557733	T	A	210557733	4	1	203	1	0	0	0	0	0	1	0	0	9237	1764	61	5	853	5	MAP2	2	210557733	Nonsense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	10311264	210557733	32641640	88	16118											
CHRND	1144	genome.wustl.edu	37	chr2	233399031	233399031	+	Silent	SNP	G	G	A													ttcattgttaaccacatgagGgaccagaacaattacaatga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:233399031G>A	ENST00000258385.3	+	11	1382	c.1350G>A	c.(1348-1350)agG>agA	p.R450R	CHRND_ENST00000543200.1_Silent_p.R435R|CHRND_ENST00000457943.2_Silent_p.R256R	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	450					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ACCACATGAGGGACCAGAACA	0.507																																																	0								ENSG00000135902						73	72	73					2																	233399031		2203	4300	6503	CHRND	SO:0001819	synonymous_variant	0			-	HGNC	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1350G>A	2.37:g.233399031G>A		Somatic	0	38	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	A8K661|B4DT92|Q52LH4	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R450	ENST00000258385.3	37	c.1350	CCDS2494.1	2																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.507	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	protein_coding	OTTHUMT00000257038.2	G		-		233399031	1	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	SNP	0.008	A	A	233399031	G	A	233399031	2	1	203	1	0	0	0	0	0	0	0	1	3396	1223	43	2		2	CHRND	2	233399031	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	22841298	233399031	9800342	89	16119	411	2									
CHRND	1144	genome.wustl.edu	37	chr2	233399032	233399032	+	Missense_Mutation	SNP	G	G	A													tcattgttaaccacatgaggGaccagaacaattacaatgag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:233399032G>A	ENST00000258385.3	+	11	1383	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CHRND_ENST00000543200.1_Missense_Mutation_p.D436N|CHRND_ENST00000457943.2_Missense_Mutation_p.D257N	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	451					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCACATGAGGGACCAGAACAA	0.507																																																	0								ENSG00000135902						73	72	72					2																	233399032		2203	4300	6503	CHRND	SO:0001583	missense	0			-	HGNC	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1351G>A	2.37:g.233399032G>A	ENSP00000258385:p.Asp451Asn	Somatic	0	39	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D451N	ENST00000258385.3	37	c.1351	CCDS2494.1	2	.	.	.	.	.	.	.	.	.	.	g	15.19	2.760849	0.49468	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85258	-1.96;-1.96;-1.96	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.250123	0.45361	D	0.000364	T	0.72875	0.3515	N	0.17723	0.515	0.43054	D	0.994668	P;B;B;B	0.34615	0.459;0.033;0.033;0.033	B;B;B;B	0.35114	0.196;0.064;0.038;0.038	T	0.70022	-0.4986	10	0.09590	T	0.72	.	12.1201	0.53887	0.0786:0.0:0.9214:0.0	.	257;436;451;451	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	N	436;451;257	ENSP00000438380:D436N;ENSP00000258385:D451N;ENSP00000391055:D257N	ENSP00000258385:D451N	D	+	1	0	CHRND	233107276	0.924000	0.31332	0.996000	0.52242	0.990000	0.78478	2.969000	0.49232	2.430000	0.82344	0.457000	0.33378	GAC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.507	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	protein_coding	OTTHUMT00000257038.2	G		-		233399032	1	no_errors	ENST00000258385	ensembl	human	known	74_37	missense	SNP	0.933	A	A	233399032	G	A	233399032	3	1	203	1	0	0	0	0	1	0	0	0	3396	1174	41	2	1393	2	CHRND	2	233399032	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	233399032	9800341	90	16120	411	2									
COL6A3	1293	genome.wustl.edu	37	chr2	238303535	238303535	+	Missense_Mutation	SNP	C	C	T													ctccgtcaccggcccggcttCcagcagccttggtgaggtgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:238303535C>T	ENST00000295550.4	-	3	856	c.404G>A	c.(403-405)gGa>gAa	p.G135E	COL6A3_ENST00000346358.4_Missense_Mutation_p.G135E|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.G135E|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	135	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCCGGCTTCCAGCAGCCTT	0.493																																																	0								ENSG00000163359						76	80	78					2																	238303535		2203	4300	6503	COL6A3	SO:0001583	missense	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.404G>A	2.37:g.238303535C>T	ENSP00000295550:p.Gly135Glu	Somatic	0	33	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G135E	ENST00000295550.4	37	c.404	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572364	0.45798	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.93	4.93	0.64822	von Willebrand factor, type A (3);	0.000000	0.46145	U	0.000301	D	0.94162	0.8127	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95850	0.8874	10	0.62326	D	0.03	.	18.1609	0.89707	0.0:1.0:0.0:0.0	.	135;135	E9PCV6;P12111	.;CO6A3_HUMAN	E	135	ENSP00000295550:G135E;ENSP00000315609:G135E;ENSP00000295546:G135E;ENSP00000389539:G135E	ENSP00000295550:G135E	G	-	2	0	COL6A3	237968274	1.000000	0.71417	0.852000	0.33557	0.842000	0.47809	7.631000	0.83237	2.268000	0.75426	0.455000	0.32223	GGA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238303535	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	SNP	1.000	T	T	238303535	C	T	238303535	3	4	203	1	0	0	0	0	1	0	0	0	3703	855	30	2	9344	2	COL6A3	2	238303535	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4904503	238303535	4895838	91	16121	412	2									
COL6A3	1293	genome.wustl.edu	37	chr2	238303536	238303536	+	Missense_Mutation	SNP	C	C	T													tccgtcaccggcccggcttcCagcagccttggtgaggtggc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:238303536C>T	ENST00000295550.4	-	3	855	c.403G>A	c.(403-405)Gga>Aga	p.G135R	COL6A3_ENST00000346358.4_Missense_Mutation_p.G135R|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.G135R|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	135	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGGCTTCCAGCAGCCTTG	0.493																																																	0								ENSG00000163359						75	80	78					2																	238303536		2203	4300	6503	COL6A3	SO:0001583	missense	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.403G>A	2.37:g.238303536C>T	ENSP00000295550:p.Gly135Arg	Somatic	0	34	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G135R	ENST00000295550.4	37	c.403	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140249	0.37825	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.93	4.93	0.64822	von Willebrand factor, type A (3);	0.000000	0.46145	U	0.000301	D	0.92980	0.7766	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92930	0.6363	10	0.33141	T	0.24	.	18.1609	0.89707	0.0:1.0:0.0:0.0	.	135;135	E9PCV6;P12111	.;CO6A3_HUMAN	R	135	ENSP00000295550:G135R;ENSP00000315609:G135R;ENSP00000295546:G135R;ENSP00000389539:G135R	ENSP00000295550:G135R	G	-	1	0	COL6A3	237968275	1.000000	0.71417	0.819000	0.32651	0.802000	0.45316	5.897000	0.69831	2.268000	0.75426	0.455000	0.32223	GGA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238303536	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	SNP	0.999	T	T	238303536	C	T	238303536	3	4	203	1	0	0	0	0	1	0	0	0	3703	603	21	2	9345	2	COL6A3	2	238303536	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	238303536	4895837	92	16122	412	2									
KLHL30	377007	genome.wustl.edu	37	chr2	239054442	239054442	+	Silent	SNP	G	G	A													cgcaccaaccacgccagcgcGgccctcaatggggagatcta							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:239054442G>A	ENST00000409223.1	+	5	1226	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	KLHL30_ENST00000305959.4_Silent_p.A355A			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	373										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACGCCAGCGCGGCCCTCAATG	0.652																																																	0								ENSG00000168427						25	33	30					2																	239054442		2040	4173	6213	KLHL30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1119G>A	2.37:g.239054442G>A		Somatic	0	65	0		0.41568620468393	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	Q6ZUS1	Silent	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A373	ENST00000409223.1	37	c.1119	CCDS46555.2	2																																																																																			-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	protein_coding	OTTHUMT00000328518.1	G	NM_198582	-		239054442	1	no_errors	ENST00000409223	ensembl	human	known	74_37	silent	SNP	0.005	A	A	239054442	G	A	239054442	2	1	203	1	0	0	0	0	0	0	0	1	8386	1103	39	1		1	KLHL30	2	239054442	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	750906	239054442	4144931	93	16123	413	2									
KLHL30	377007	genome.wustl.edu	37	chr2	239054443	239054443	+	Missense_Mutation	SNP	G	G	A													gcaccaaccacgccagcgcgGccctcaatggggagatctac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr2:239054443G>A	ENST00000409223.1	+	5	1227	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A356T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	374										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGCCAGCGCGGCCCTCAATGG	0.657																																																	0								ENSG00000168427						25	33	30					2																	239054443		2045	4175	6220	KLHL30	SO:0001583	missense	0			-	HGNC		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1120G>A	2.37:g.239054443G>A	ENSP00000386389:p.Ala374Thr	Somatic	0	67	0		0.41568620468393	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q6ZUS1	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A374T	ENST00000409223.1	37	c.1120	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764622	0.31228	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.77620	-1.11;-1.11	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.295460	0.31963	N	0.006783	T	0.63022	0.2476	N	0.17278	0.47	0.09310	N	1	B	0.29378	0.243	B	0.31686	0.134	T	0.55774	-0.8088	10	0.33940	T	0.23	.	11.4977	0.50419	0.0:0.0:0.8202:0.1798	.	374	Q0D2K2	KLH30_HUMAN	T	374;356	ENSP00000386389:A374T;ENSP00000302386:A356T	ENSP00000302386:A356T	A	+	1	0	KLHL30	238719182	0.980000	0.34600	0.111000	0.21465	0.706000	0.40770	3.744000	0.55112	2.113000	0.64589	0.542000	0.68232	GCC	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	protein_coding	OTTHUMT00000328518.1	G	NM_198582	-		239054443	1	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	SNP	0.080	A	A	239054443	G	A	239054443	3	1	203	1	0	0	0	0	1	0	0	0	8386	1203	42	2	1134	2	KLHL30	2	239054443	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	239054443	4144930	94	16124	413	2									
CHL1	10752	genome.wustl.edu	37	chr3	419527	419527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgatggagctaatttgaCcatatctaatgtaactttag	7	5	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:419527C>T	ENST00000256509.2	+	16	2420	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CHL1_ENST00000397491.2_Missense_Mutation_p.T577I|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	379					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)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCTAATTTGACCATATCTAAT	0.338																																																	0								ENSG00000134121						124	119	121					3																	419527		2202	4300	6502	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1778C>T	3.37:g.419527C>T	ENSP00000256509:p.Thr593Ile	Somatic	0	43	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T593I	ENST00000256509.2	37	c.1778	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540246	0.65085	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.11495	2.77;2.77	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.362564	0.30538	N	0.009411	T	0.13884	0.0336	L	0.49699	1.58	0.35269	D	0.780241	P;P;P	0.43857	0.668;0.819;0.778	B;P;B	0.44772	0.363;0.46;0.299	T	0.06770	-1.0808	10	0.72032	D	0.01	.	8.8148	0.34989	0.0:0.8739:0.0:0.1261	.	577;577;593	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	593;577	ENSP00000256509:T593I;ENSP00000380628:T577I	ENSP00000256509:T593I	T	+	2	0	CHL1	394527	0.987000	0.35691	0.965000	0.40720	0.952000	0.60782	2.233000	0.43027	2.695000	0.91970	0.655000	0.94253	ACC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	C	NM_006614	-		419527	1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	0.996	T	T	419527	C	T	419527	3	4	203	1	0	0	0	0	1	0	0	0	3351	507	18	2	1832	2	CHL1	3	419527	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		419527	197602903	95	16125											
SUMF1	285362	genome.wustl.edu	37	chr3	4452606	4452606	+	Nonsense_Mutation	SNP	C	C	T													caccagtctgaagtccattcCcatgcgttccccactatgtt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:4452606C>T	ENST00000272902.5	-	7	932	c.897G>A	c.(895-897)tgG>tgA	p.W299*	SUMF1_ENST00000458465.2_Nonsense_Mutation_p.W167*|SUMF1_ENST00000383843.5_Nonsense_Mutation_p.W274*|SUMF1_ENST00000405420.2_Nonsense_Mutation_p.W299*|SUMF1_ENST00000534863.1_Nonsense_Mutation_p.W299*	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	299					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)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AAGTCCATTCCCATGCGTTCC	0.438																																																	0								ENSG00000144455						202	181	188					3																	4452606		2203	4300	6503	SUMF1	SO:0001587	stop_gained	0			-	HGNC	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.897G>A	3.37:g.4452606C>T	ENSP00000272902:p.Trp299*	Somatic	0	52	0		0.41568620468393	43	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Nonsense_Mutation	SNP							pfam_FGE_dom,superfamily_C-type_lectin_fold	p.W299*	ENST00000272902.5	37	c.897	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368287	0.82463	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	.	.	.	5.42	5.42	0.78866	.	0.105878	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0734	17.9951	0.89181	0.0:1.0:0.0:0.0	.	.	.	.	X	299;299;299;274;167;299	.	ENSP00000272902:W299X	W	-	3	0	SUMF1	4427606	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	TGG	-	pfam_FGE_dom,superfamily_C-type_lectin_fold		0.438	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	protein_coding	OTTHUMT00000206591.2	C	NM_182760	-		4452606	-1	no_errors	ENST00000448413	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	4452606	C	T	4452606	4	4	203	1	0	0	0	0	0	1	0	0	15392	624	22	2	239	2	SUMF1	3	4452606	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4033079	4452606	193569824	96	16126	414	2									
SUMF1	285362	genome.wustl.edu	37	chr3	4452607	4452607	+	Nonsense_Mutation	SNP	C	C	T													accagtctgaagtccattccCatgcgttccccactatgttg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:4452607C>T	ENST00000272902.5	-	7	931	c.896G>A	c.(895-897)tGg>tAg	p.W299*	SUMF1_ENST00000458465.2_Nonsense_Mutation_p.W167*|SUMF1_ENST00000383843.5_Nonsense_Mutation_p.W274*|SUMF1_ENST00000405420.2_Nonsense_Mutation_p.W299*|SUMF1_ENST00000534863.1_Nonsense_Mutation_p.W299*	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	299					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)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AGTCCATTCCCATGCGTTCCC	0.433																																																	0								ENSG00000144455						202	181	188					3																	4452607		2203	4300	6503	SUMF1	SO:0001587	stop_gained	0			-	HGNC	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.896G>A	3.37:g.4452607C>T	ENSP00000272902:p.Trp299*	Somatic	0	53	0		0.41568620468393	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Nonsense_Mutation	SNP							pfam_FGE_dom,superfamily_C-type_lectin_fold	p.W299*	ENST00000272902.5	37	c.896	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162592	0.78226	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	.	.	.	5.42	5.42	0.78866	.	0.105878	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0734	17.9951	0.89181	0.0:1.0:0.0:0.0	.	.	.	.	X	299;299;299;274;167;299	.	ENSP00000272902:W299X	W	-	2	0	SUMF1	4427607	1.000000	0.71417	0.996000	0.52242	0.307000	0.27823	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	TGG	-	pfam_FGE_dom,superfamily_C-type_lectin_fold		0.433	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	protein_coding	OTTHUMT00000206591.2	C	NM_182760	-		4452607	-1	no_errors	ENST00000448413	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	4452607	C	T	4452607	4	4	203	1	0	0	0	0	0	1	0	0	15392	595	21	2	240	2	SUMF1	3	4452607	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	4452607	193569823	97	16127	414	2									
GRM7	2917	genome.wustl.edu	37	chr3	7188273	7188273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgtaaaggccctaggctgGaattatgtgtctaccctcgc	10	10	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:7188273G>A	ENST00000357716.4	+	2	928	c.654G>A	c.(652-654)tgG>tgA	p.W218*	GRM7_ENST00000389336.4_Nonsense_Mutation_p.W218*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.W218*|GRM7_ENST00000486284.1_Nonsense_Mutation_p.W218*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.W218*	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	218					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						CCCTAGGCTGGAATTATGTGT	0.517																																																	0								ENSG00000196277						107	101	103					3																	7188273		2203	4300	6503	GRM7	SO:0001587	stop_gained	0			-	HGNC	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.654G>A	3.37:g.7188273G>A	ENSP00000350348:p.Trp218*	Somatic	0	62	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	Q8NFS2|Q8NFS3|Q8NFS4	Nonsense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.W218*	ENST00000357716.4	37	c.654	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647079	0.87958	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	.	.	.	X	10;218;218;218;218;218;218;218	.	ENSP00000350348:W218X	W	+	3	0	GRM7	7163273	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	TGG	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	protein_coding	OTTHUMT00000246895.3	G	NM_000844	-		7188273	1	no_errors	ENST00000402647	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	7188273	G	A	7188273	4	1	203	1	0	0	0	0	0	1	0	0	6804	1183	41	2	660	2	GRM7	3	7188273	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2735666	7188273	190834157	98	16128											
ZNF385D	79750	genome.wustl.edu	37	chr3	21706429	21706429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagtgtcaagaggaaaGggaagaaatggtttaatatc	13	4	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:21706429G>A	ENST00000281523.2	-	2	632	c.114C>T	c.(112-114)ccC>ccT	p.P38P	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	38						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAAGAGGAAAGGGAAGAAATG	0.502																																																	0								ENSG00000151789						111	104	106					3																	21706429		2203	4300	6503	ZNF385D	SO:0001819	synonymous_variant	0			-	HGNC	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.114C>T	3.37:g.21706429G>A		Somatic	0	92	0		0.41568620468393	16	58.97	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00		Silent	SNP							pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.P38	ENST00000281523.2	37	c.114	CCDS2636.1	3																																																																																			-	NULL		0.502	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	protein_coding	OTTHUMT00000252884.1	G	NM_024697	-		21706429	-1	no_errors	ENST00000281523	ensembl	human	known	74_37	silent	SNP	0.767	A	A	21706429	G	A	21706429	2	1	203	1	0	0	0	0	0	0	0	1	17885	987	35	2		2	ZNF385D	3	21706429	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14518156	21706429	176316001	99	16129											
EOMES	8320	genome.wustl.edu	37	chr3	27763770	27763770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgagctcaccaagagctGctcccctaactgcatgcttt	7	15	1	2	rs200789175	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:27763770G>T	ENST00000295743.4	-	1	219	c.16C>A	c.(16-18)Cag>Aag	p.Q6K	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.Q6K			O95936	EOMES_HUMAN	eomesodermin	6					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACCAAGAGCTGCTCCCCTAAC	0.657																																																	0								ENSG00000163508						12	13	13					3																	27763770		1933	4048	5981	EOMES	SO:0001583	missense	0			-	HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.16C>A	3.37:g.27763770G>T	ENSP00000295743:p.Gln6Lys	Somatic	0	26	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Q6K	ENST00000295743.4	37	c.16	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584510	0.46110	.	.	ENSG00000163508	ENST00000295743;ENST00000449599	D;D	0.85773	-2.03;-2.02	4.68	4.68	0.58851	.	3.542420	0.03256	U	0.182527	D	0.83202	0.5203	L	0.34521	1.04	0.80722	D	1	B;B;B	0.31817	0.341;0.341;0.231	B;B;B	0.32762	0.152;0.08;0.037	T	0.60357	-0.7279	10	0.37606	T	0.19	.	16.5707	0.84612	0.0:0.0:1.0:0.0	.	6;6;6	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	K	6	ENSP00000295743:Q6K;ENSP00000388620:Q6K	ENSP00000295743:Q6K	Q	-	1	0	EOMES	27738774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.676000	0.46883	2.450000	0.82876	0.456000	0.33151	CAG	-	NULL		0.657	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	G	NM_005442	-		27763770	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27763770	G	T	27763770	3	4	203	1	0	0	0	0	1	0	0	0	5149	1328	46	3	2068	3	EOMES	3	27763770	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	6057341	27763770	170258660	100	16130											
TGFBR2	7048	genome.wustl.edu	37	chr3	30713642	30713642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggggaaacaatactggCtgatcaccgccttccacgcc	10	13	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:30713642C>T	ENST00000295754.5	+	4	1349	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	TGFBR2_ENST00000359013.4_Silent_p.L348L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACAATACTGGCTGATCACCGC	0.572																																																	0								ENSG00000163513						92	81	85					3																	30713642		2203	4300	6503	TGFBR2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.967C>T	3.37:g.30713642C>T		Somatic	0	42	0		0.41568620468393	47	2.04	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP							pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.L348	ENST00000295754.5	37	c.1042	CCDS2648.1	3																																																																																			-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.572	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	protein_coding	OTTHUMT00000252994.2	C		-		30713642	1	no_errors	ENST00000359013	ensembl	human	known	74_37	silent	SNP	1.000	T	T	30713642	C	T	30713642	2	4	203	1	0	0	0	0	0	0	0	1	15829	796	28	2		2	TGFBR2	3	30713642	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2949872	30713642	167308788	101	16131											
CCR9	10803	genome.wustl.edu	37	chr3	45943138	45943138	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgcctatgccatgttcatCtccaactgtgccgtttccac	7	15	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:45943138C>T	ENST00000357632.2	+	3	1038	c.858C>T	c.(856-858)atC>atT	p.I286I	CCR9_ENST00000395963.2_Silent_p.I274I|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Silent_p.I274I|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	286					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCATGTTCATCTCCAACTGTG	0.478																																																	0								ENSG00000173585						210	176	188					3																	45943138		2203	4300	6503	CCR9	SO:0001819	synonymous_variant	0			-	HGNC	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.858C>T	3.37:g.45943138C>T		Somatic	0	56	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4	p.I286	ENST00000357632.2	37	c.858	CCDS2732.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_ATII_rcpt		0.478	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	protein_coding	OTTHUMT00000257323.2	C		-		45943138	1	no_errors	ENST00000357632	ensembl	human	known	74_37	silent	SNP	0.000	T	T	45943138	C	T	45943138	2	4	203	1	0	0	0	0	0	0	0	1	2950	903	32	2		2	CCR9	3	45943138	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	15229496	45943138	152079292	102	16132											
PRSS50	29122	genome.wustl.edu	37	chr3	46759225	46759226	+	In_Frame_Ins	INS	-	-	ATA													cacctgcagacctcagcaacINSagaagcagcagcagcagggc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:46759225_46759226insATA	ENST00000460241.1	-	6	1759_1760	c.89_90insTAT	c.(88-90)ctg>ctTATg	p.30_31insM	PRSS50_ENST00000315170.7_In_Frame_Ins_p.30_31insM			Q9UI38	TSP50_HUMAN	protease, serine, 50	30					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACCTCAGCAACAGAAGCAGCAG	0.718																																					Pancreas(41;915 1239 11561 17469)												0								ENSG00000206549																																			PRSS50	SO:0001652	inframe_insertion	0				HGNC	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.89_90insTAT	3.37:g.46759225_46759226insATA	ENSP00000418875:p.Leu30_Leu31insMet	Somatic	0	29	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18		In_Frame_Ins	INS							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.31in_frame_insM	ENST00000460241.1	37	c.90_89	CCDS2745.1	3																																																																																			-	NULL		0.718	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS50	protein_coding	OTTHUMT00000354544.1	-				46759226	-1	no_errors	ENST00000315170	ensembl	human	known	74_37	in_frame_ins	INS	0.978:0.984	ATA	ATA	46759226	-	ATA	46759225	7	5	203	1	0	1	1	0	0	0	0	0	12636	465	17	0	1091	0	PRSS50	3	46759225	In_Frame_Ins	INS	-	TCGA-QQ-A5VD-01A-21D-A32I-09	816087	46759225	151263205	103	16133											
COL7A1	1294	genome.wustl.edu	37	chr3	48626426	48626426	+	Missense_Mutation	SNP	G	G	C													cacacgacccacaggctcagGggctggggacagaggcaagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:48626426G>C	ENST00000328333.8	-	18	2424	c.2317C>G	c.(2317-2319)Cct>Gct	p.P773A	COL7A1_ENST00000454817.1_Missense_Mutation_p.P773A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	773	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				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)		ACAGGCTCAGGGGCTGGGGAC	0.577																																																	0								ENSG00000114270						67	68	68					3																	48626426		2203	4300	6503	COL7A1	SO:0001583	missense	0			-	HGNC	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.2317C>G	3.37:g.48626426G>C	ENSP00000332371:p.Pro773Ala	Somatic	0	30	0		0.41568620468393	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q14054|Q16507	Missense_Mutation	SNP							pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P773A	ENST00000328333.8	37	c.2317	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889885	0.33348	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.52526	0.66;0.66	5.08	5.08	0.68730	Immunoglobulin-like fold (1);	0.166035	0.28371	N	0.015583	T	0.42177	0.1191	L	0.34521	1.04	0.36637	D	0.876655	D	0.55172	0.97	P	0.49332	0.607	T	0.31251	-0.9950	10	0.08837	T	0.75	.	14.3442	0.66649	0.0:0.0:1.0:0.0	.	773	Q02388	CO7A1_HUMAN	A	773	ENSP00000332371:P773A;ENSP00000412569:P773A	ENSP00000332371:P773A	P	-	1	0	COL7A1	48601430	0.989000	0.36119	1.000000	0.80357	0.884000	0.51177	2.621000	0.46418	2.531000	0.85337	0.462000	0.41574	CCT	-	NULL		0.577	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	G	NM_000094	-		48626426	-1	no_errors	ENST00000328333	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48626426	G	C	48626426	3	2	203	1	0	0	0	0	1	0	0	0	3706	1232	43	4	6921	4	COL7A1	3	48626426	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1867201	48626426	149396004	104	16134	415	2									
COL7A1	1294	genome.wustl.edu	37	chr3	48626427	48626427	+	Splice_Site	SNP	G	G	A													acacgacccacaggctcaggGgctggggacagaggcaaggt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:48626427G>A	ENST00000328333.8	-	18	2423	c.2316C>T	c.(2314-2316)gcC>gcT	p.A772A	COL7A1_ENST00000454817.1_Splice_Site_p.A772A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	772	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				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)		CAGGCTCAGGGGCTGGGGACA	0.572																																																	0								ENSG00000114270						67	67	67					3																	48626427		2203	4300	6503	COL7A1	SO:0001630	splice_region_variant	0			-	HGNC	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.2315-1C>T	3.37:g.48626427G>A		Somatic	0	30	0		0.41568620468393	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q14054|Q16507	Silent	SNP							pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A772	ENST00000328333.8	37	c.2316	CCDS2773.1	3																																																																																			-	superfamily_Fibronectin_type3		0.572	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	G	NM_000094	-	Silent	48626427	-1	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48626427	G	A	48626427	5	1	203	1	0	0	0	0	0	0	1	0	3706	1246	43	2	6922	2	COL7A1	3	48626427	Splice_Site	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	48626427	149396003	105	16135	415	2									
RBM5	10181	genome.wustl.edu	37	chr3	50152992	50152992	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgccggcgccagttcccGaacaaagatgccctagtcag	10	15	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:50152992G>A	ENST00000347869.3	+	21	2146	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P	RP11-493K19.3_ENST00000437204.1_RNA|RP11-493K19.3_ENST00000425674.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	657	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAGTTCCCGAACAAAGATG	0.567																																																	0								ENSG00000003756						97	101	100					3																	50152992		2203	4300	6503	RBM5	SO:0001819	synonymous_variant	0			-	HGNC	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1971G>A	3.37:g.50152992G>A		Somatic	0	43	0		0.41568620468393	199	13.1	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP							pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.P657	ENST00000347869.3	37	c.1971	CCDS2810.1	3																																																																																			-	pfscan_Znf_C2H2		0.567	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	protein_coding	OTTHUMT00000345797.3	G	NM_005778	-		50152992	1	no_errors	ENST00000347869	ensembl	human	known	74_37	silent	SNP	0.980	A	A	50152992	G	A	50152992	2	1	203	1	0	0	0	0	0	0	0	1	13151	1045	37	1		1	RBM5	3	50152992	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1526565	50152992	147869438	106	16136											
SENP7	57337	genome.wustl.edu	37	chr3	101083777	101083777	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggtcttgcttagattgtaaCttaagaatttctgaactttt	7	6	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:101083777C>G	ENST00000394095.2	-	10	1430	c.1377G>C	c.(1375-1377)aaG>aaC	p.K459N	SENP7_ENST00000394094.2_Missense_Mutation_p.K394N|SENP7_ENST00000348610.3_Missense_Mutation_p.K426N|SENP7_ENST00000358203.3_Missense_Mutation_p.K295N|SENP7_ENST00000314261.7_Missense_Mutation_p.K393N|SENP7_ENST00000394091.1_Missense_Mutation_p.K295N	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	459						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			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						TAGATTGTAACTTAAGAATTT	0.313																																																	0								ENSG00000138468						96	91	92					3																	101083777		2203	4296	6499	SENP7	SO:0001583	missense	0			-	HGNC		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.1377G>C	3.37:g.101083777C>G	ENSP00000377655:p.Lys459Asn	Somatic	0	59	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP							pfam_Peptidase_C48,pfscan_Peptidase_C48	p.K459N	ENST00000394095.2	37	c.1377	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	7.077	0.569379	0.13560	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18657	2.2;2.22;2.22;2.21;2.21;2.2	5.57	-3.64	0.04515	.	0.506048	0.20347	N	0.094139	T	0.11750	0.0286	L	0.39633	1.23	0.26323	N	0.977638	B;B;B;B	0.20887	0.023;0.049;0.029;0.037	B;B;B;B	0.17433	0.018;0.008;0.012;0.011	T	0.30031	-0.9992	10	0.18710	T	0.47	-16.7391	6.5765	0.22569	0.1443:0.4252:0.0:0.4305	.	295;393;426;459	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	N	459;394;393;295;295;426	ENSP00000377655:K459N;ENSP00000377654:K394N;ENSP00000313624:K393N;ENSP00000377651:K295N;ENSP00000350936:K295N;ENSP00000342159:K426N	ENSP00000313624:K393N	K	-	3	2	SENP7	102566467	0.980000	0.34600	0.907000	0.35723	0.666000	0.39218	-0.142000	0.10311	-0.401000	0.07644	-0.312000	0.09012	AAG	-	NULL		0.313	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	protein_coding	OTTHUMT00000313957.2	C	NM_020654	-		101083777	-1	no_errors	ENST00000394095	ensembl	human	known	74_37	missense	SNP	0.607	G	G	101083777	C	G	101083777	3	3	203	1	0	0	0	0	1	0	0	0	14059	564	20	4	1835	4	SENP7	3	101083777	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	50930785	101083777	96938653	107	16137											
BBX	56987	genome.wustl.edu	37	chr3	107451806	107451806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttttgacttatttagatcCtactcaaatgggaggcctga	9	7	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:107451806C>A	ENST00000325805.8	+	7	892	c.605C>A	c.(604-606)cCt>cAt	p.P202H	BBX_ENST00000406780.1_Missense_Mutation_p.P202H|BBX_ENST00000415149.2_Missense_Mutation_p.P202H|BBX_ENST00000402543.1_Missense_Mutation_p.P202H|BBX_ENST00000416476.2_Missense_Mutation_p.P202H			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	202					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TATTTAGATCCTACTCAAATG	0.403																																																	0								ENSG00000114439						179	151	160					3																	107451806		2203	4300	6503	BBX	SO:0001583	missense	0			-	HGNC	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.605C>A	3.37:g.107451806C>A	ENSP00000319974:p.Pro202His	Somatic	0	59	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP							pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P202H	ENST00000325805.8	37	c.605	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919996	0.92249	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000456419;ENST00000402163;ENST00000406780	D;D;D;D;D;D;D	0.99474	-5.03;-5.05;-5.05;-5.35;-5.97;-5.67;-5.03	5.55	5.55	0.83447	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.000000	0.85682	D	0.000000	D	0.99465	0.9810	M	0.69823	2.125	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;0.999;0.998	D	0.99123	1.0850	10	0.87932	D	0	-9.6754	19.5101	0.95139	0.0:1.0:0.0:0.0	.	202;202;202;202	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	H	202;53;202;202;202;202;202;202	ENSP00000408358:P202H;ENSP00000385317:P202H;ENSP00000319974:P202H;ENSP00000403860:P202H;ENSP00000413274:P202H;ENSP00000385518:P202H;ENSP00000385530:P202H	ENSP00000319742:P53H	P	+	2	0	BBX	108934496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.022000	0.76431	2.606000	0.88127	0.591000	0.81541	CCT	-	pfam_TF_HMG_box_BBX_DUF2028		0.403	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	protein_coding	OTTHUMT00000317820.1	C	NM_020235	-		107451806	1	no_errors	ENST00000325805	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107451806	C	A	107451806	3	1	203	1	0	0	0	0	1	0	0	0	1343	681	24	3	619	3	BBX	3	107451806	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6368029	107451806	90570624	108	16138											
PHLDB2	90102	genome.wustl.edu	37	chr3	111637922	111637922	+	Missense_Mutation	SNP	C	C	T													gtgttgattaatcgcagaccCcagagggtataagtgaagaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:111637922C>T	ENST00000431670.2	+	4	2134	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	PHLDB2_ENST00000393925.3_Missense_Mutation_p.P575S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P602S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P575S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P575S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.P161S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	575						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCGCAGACCCCAGAGGGTAT	0.428																																																	0								ENSG00000144824						126	132	130					3																	111637922		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1723C>T	3.37:g.111637922C>T	ENSP00000405405:p.Pro575Ser	Somatic	0	123	0		0.41568620468393	35	14.63	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P575S	ENST00000431670.2	37	c.1723	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865977	0.71949	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.34472	1.38;1.4;1.39;1.36;1.4;1.39;1.69	5.55	5.55	0.83447	.	0.264236	0.40385	N	0.001113	T	0.39733	0.1089	L	0.38175	1.15	0.36174	D	0.848978	P;D;D;D	0.60575	0.956;0.988;0.974;0.974	P;P;P;P	0.52793	0.549;0.709;0.647;0.647	T	0.20840	-1.0263	10	0.13853	T	0.58	.	16.7824	0.85566	0.0:1.0:0.0:0.0	.	161;575;575;602	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	S	602;602;575;575;575;575;575;161	ENSP00000377500:P602S;ENSP00000405405:P575S;ENSP00000405292:P575S;ENSP00000418296:P575S;ENSP00000377502:P575S;ENSP00000418319:P575S;ENSP00000420303:P161S	ENSP00000352764:P602S	P	+	1	0	PHLDB2	113120612	0.990000	0.36364	1.000000	0.80357	0.976000	0.68499	0.619000	0.24388	2.753000	0.94483	0.655000	0.94253	CCA	-	NULL		0.428	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	C	NM_145753	-		111637922	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111637922	C	T	111637922	3	4	203	1	0	0	0	0	1	0	0	0	11854	623	22	2	1818	2	PHLDB2	3	111637922	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4186116	111637922	86384508	109	16139	416	2									
PHLDB2	90102	genome.wustl.edu	37	chr3	111637923	111637923	+	Missense_Mutation	SNP	C	C	T													tgttgattaatcgcagacccCagagggtataagtgaagaac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:111637923C>T	ENST00000431670.2	+	4	2135	c.1724C>T	c.(1723-1725)cCa>cTa	p.P575L	PHLDB2_ENST00000393925.3_Missense_Mutation_p.P575L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P602L|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P575L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.P575L|PHLDB2_ENST00000495180.1_Missense_Mutation_p.P161L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	575						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCGCAGACCCCAGAGGGTATA	0.433																																																	0								ENSG00000144824						126	133	131					3																	111637923		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1724C>T	3.37:g.111637923C>T	ENSP00000405405:p.Pro575Leu	Somatic	0	124	0		0.41568620468393	33	15.38	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.00	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P575L	ENST00000431670.2	37	c.1724	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509808	0.64522	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.35048	1.35;1.36;1.36;1.33;1.36;1.36;1.61	5.55	5.55	0.83447	.	0.264236	0.40385	N	0.001113	T	0.31702	0.0805	L	0.43152	1.355	0.50171	D	0.999856	P;P;P;P	0.50156	0.69;0.932;0.794;0.794	B;B;B;B	0.39805	0.15;0.288;0.31;0.31	T	0.03933	-1.0991	10	0.26408	T	0.33	.	16.7824	0.85566	0.0:1.0:0.0:0.0	.	161;575;575;602	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	L	602;602;575;575;575;575;575;161	ENSP00000377500:P602L;ENSP00000405405:P575L;ENSP00000405292:P575L;ENSP00000418296:P575L;ENSP00000377502:P575L;ENSP00000418319:P575L;ENSP00000420303:P161L	ENSP00000352764:P602L	P	+	2	0	PHLDB2	113120613	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.054000	0.57434	2.753000	0.94483	0.655000	0.94253	CCA	-	NULL		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	C	NM_145753	-		111637923	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111637923	C	T	111637923	3	4	203	1	0	0	0	0	1	0	0	0	11854	594	21	2	1819	2	PHLDB2	3	111637923	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	111637923	86384507	110	16140	416	2									
ATG3	64422	genome.wustl.edu	37	chr3	112256658	112256658	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaggtcataagttctgGtttgcaaaatagcatcttca	8	6	4	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:112256658G>C	ENST00000283290.5	-	9	1024	c.590C>G	c.(589-591)aCc>aGc	p.T197S	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.T197S	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	197					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ATAAGTTCTGGTTTGCAAAAT	0.338																																																	0								ENSG00000144848						112	106	108					3																	112256658		2203	4300	6503	ATG3	SO:0001583	missense	0			-	HGNC		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.590C>G	3.37:g.112256658G>C	ENSP00000283290:p.Thr197Ser	Somatic	0	98	0		0.41568620468393	188	22.31	54	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	Q6PKC5|Q9H6L9	Missense_Mutation	SNP							pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C	p.T197S	ENST00000283290.5	37	c.590	CCDS2966.1	3	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644782	0.87859	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.82	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.947;1.0	T	0.82633	-0.0361	9	0.41790	T	0.15	-9.9685	16.3503	0.83202	0.0:0.0:0.867:0.133	.	197;197	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	S	197	.	ENSP00000283290:T197S	T	-	2	0	ATG3	113739348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.553000	0.82203	1.442000	0.47568	0.655000	0.94253	ACC	-	NULL		0.338	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	protein_coding	OTTHUMT00000354147.1	G	NM_022488	-		112256658	-1	no_errors	ENST00000283290	ensembl	human	known	74_37	missense	SNP	1.000	C	C	112256658	G	C	112256658	3	2	203	1	0	0	0	0	1	0	0	0	1095	1261	44	4	370	4	ATG3	3	112256658	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	618735	112256658	85765772	111	16141											
KIAA1407	57577	genome.wustl.edu	37	chr3	113755593	113755593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctataaatttttgaacGgtggtactttcctcttcttc	7	8	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:113755593G>A	ENST00000295878.3	-	5	602	c.456C>T	c.(454-456)acC>acT	p.T152T	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	152										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTTTTGAACGGTGGTACTTT	0.343																																																	0								ENSG00000163617						105	99	101					3																	113755593		2203	4300	6503	KIAA1407	SO:0001819	synonymous_variant	0			-	HGNC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.456C>T	3.37:g.113755593G>A		Somatic	0	74	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	B4DYL1|Q9P2E0	Silent	SNP							NULL	p.T152	ENST00000295878.3	37	c.456	CCDS2977.1	3																																																																																			-	NULL		0.343	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	protein_coding	OTTHUMT00000354724.2	G	NM_020817	-		113755593	-1	no_errors	ENST00000295878	ensembl	human	known	74_37	silent	SNP	0.763	A	A	113755593	G	A	113755593	2	1	203	1	0	0	0	0	0	0	0	1	8231	1103	39	1		1	KIAA1407	3	113755593	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1498935	113755593	84266837	112	16142											
UPK1B	7348	genome.wustl.edu	37	chr3	118905609	118905609	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggccaaagacaactcaacTgttcgttgcttccagggcct	9	12	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:118905609T>A	ENST00000264234.3	+	2	170	c.21T>A	c.(19-21)acT>acA	p.T7T	UPK1B_ENST00000460625.1_Silent_p.T7T|UPK1B_ENST00000497685.1_Intron|RP11-484M3.5_ENST00000490594.1_Intron	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	7					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		ACAACTCAACTGTTCGTTGCT	0.393																																																	0								ENSG00000114638						173	158	163					3																	118905609		2203	4300	6503	UPK1B	SO:0001819	synonymous_variant	0			-	HGNC	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"Tetraspanins"	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.21T>A	3.37:g.118905609T>A		Somatic	0	82	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	O60753|Q9UIM2|Q9UNX6	Silent	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T7	ENST00000264234.3	37	c.21	CCDS2985.1	3																																																																																			-	NULL		0.393	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1B	protein_coding	OTTHUMT00000354883.2	T		-		118905609	1	no_errors	ENST00000264234	ensembl	human	known	74_37	silent	SNP	0.410	A	A	118905609	T	A	118905609	2	1	203	1	0	0	0	0	0	0	0	1	17015	1567	55	5		5	UPK1B	3	118905609	Silent	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	5150016	118905609	79116821	113	16143											
COL6A6	131873	genome.wustl.edu	37	chr3	130293270	130293270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagctcattcagatcaccGggactgcagagaaaaaactg	10	10	3	2	rs148700491	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:130293270G>T	ENST00000358511.6	+	7	3479	c.3448G>T	c.(3448-3450)Ggg>Tgg	p.G1150W	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1150W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1150	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGATCACCGGGACTGCAGA	0.532																																																	0								ENSG00000206384						60	64	62					3																	130293270		1999	4167	6166	COL6A6	SO:0001583	missense	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3448G>T	3.37:g.130293270G>T	ENSP00000351310:p.Gly1150Trp	Somatic	0	50	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1150W	ENST00000358511.6	37	c.3448	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233456	0.58886	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79554	-1.28;-1.28	5.18	5.18	0.71444	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000023	D	0.92492	0.7616	M	0.93197	3.39	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.93644	0.6967	10	0.54805	T	0.06	.	18.6465	0.91411	0.0:0.0:1.0:0.0	.	1150	A6NMZ7	CO6A6_HUMAN	W	1150	ENSP00000351310:G1150W;ENSP00000399236:G1150W	ENSP00000351310:G1150W	G	+	1	0	COL6A6	131775960	1.000000	0.71417	0.301000	0.25044	0.260000	0.26232	6.888000	0.75622	2.572000	0.86782	0.655000	0.94253	GGG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	G	NM_001102608	-		130293270	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	SNP	0.994	T	T	130293270	G	T	130293270	3	4	203	1	0	0	0	0	1	0	0	0	3705	1116	39	3	3474	3	COL6A6	3	130293270	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	11387661	130293270	67729160	114	16144											
IGSF10	285313	genome.wustl.edu	37	chr3	151156058	151156058	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagttccattgttgaaaagGgtatatctcctagtcctgtg	9	7	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:151156058G>T	ENST00000282466.3	-	6	6290	c.6291C>A	c.(6289-6291)acC>acA	p.T2097T	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2097	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTGAAAAGGGTATATCTCC	0.458																																																	0								ENSG00000152580						150	145	147					3																	151156058		2203	4300	6503	IGSF10	SO:0001819	synonymous_variant	0			-	HGNC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6291C>A	3.37:g.151156058G>T		Somatic	0	64	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q86YJ9|Q8N772|Q8NA84	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.T2097	ENST00000282466.3	37	c.6291	CCDS3160.1	3																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.458	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	protein_coding	OTTHUMT00000357782.1	G	NM_178822	-		151156058	-1	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	SNP	0.071	T	T	151156058	G	T	151156058	2	4	203	1	0	0	0	0	0	0	0	1	7599	1219	43	3		3	IGSF10	3	151156058	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	20862788	151156058	46866372	115	16145											
ZBBX	79740	genome.wustl.edu	37	chr3	167000220	167000220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaggatgaaaggcaactgGagctttctttaacagagttg	13	5	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:167000220G>A	ENST00000392766.2	-	19	2283	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	ZBBX_ENST00000455345.2_Missense_Mutation_p.S687F|ZBBX_ENST00000307529.5_Missense_Mutation_p.S687F|ZBBX_ENST00000392764.1_Missense_Mutation_p.S619F|ZBBX_ENST00000392767.2_Missense_Mutation_p.S648F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	648	Ser-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAGGCAACTGGAGCTTTCTTT	0.338																																																	0								ENSG00000169064						141	136	138					3																	167000220		1838	4076	5914	ZBBX	SO:0001583	missense	0			-	HGNC	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1943C>T	3.37:g.167000220G>A	ENSP00000376519:p.Ser648Phe	Somatic	0	76	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP							pfam_Znf_B-box	p.S687F	ENST00000392766.2	37	c.2060	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971742	0.18736	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.13089	2.8;2.8;2.8;2.8;2.62	5.28	4.35	0.52113	.	0.155915	0.41605	D	0.000856	T	0.25195	0.0612	L	0.48642	1.525	0.09310	N	1	D;P	0.55385	0.971;0.952	P;P	0.60473	0.875;0.753	T	0.01805	-1.1270	10	0.87932	D	0	-0.8455	11.0602	0.47942	0.0:0.1874:0.8126:0.0	.	687;648	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	648;648;687;687;619	ENSP00000376519:S648F;ENSP00000376520:S648F;ENSP00000390232:S687F;ENSP00000305065:S687F;ENSP00000376517:S619F	ENSP00000305065:S687F	S	-	2	0	ZBBX	168482914	0.044000	0.20184	0.054000	0.19295	0.021000	0.10359	1.356000	0.34079	2.463000	0.83235	0.650000	0.86243	TCC	-	NULL		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	protein_coding	OTTHUMT00000257657.3	G	NM_024687	-		167000220	-1	no_errors	ENST00000307529	ensembl	human	known	74_37	missense	SNP	0.006	A	A	167000220	G	A	167000220	3	1	203	1	0	0	0	0	1	0	0	0	17523	1174	41	2	471	2	ZBBX	3	167000220	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	15844162	167000220	31022210	116	16146											
ECE2	9718	genome.wustl.edu	37	chr3	183975449	183975449	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttcttttgatgtggtgctcGagaagggcacgctggatgcc	14	9	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:183975449G>T	ENST00000402825.3	+	2	385	c.385G>T	c.(385-387)Gag>Tag	p.E129*	ECE2_ENST00000324557.4_Nonsense_Mutation_p.E129*|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	129	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGGTGCTCGAGAAGGGCAC	0.612																																																	0								ENSG00000145194						60	58	59					3																	183975449		2203	4300	6503	ECE2	SO:0001587	stop_gained	0			-	HGNC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.385G>T	3.37:g.183975449G>T	ENSP00000384223:p.Glu129*	Somatic	0	37	0		0.41568620468393	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Nonsense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.E129*	ENST00000402825.3	37	c.385	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	34	5.386457	0.95967	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.926	19.4659	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	129	.	ENSP00000314295:E129X	E	+	1	0	ECE2	185458143	1.000000	0.71417	0.969000	0.41365	0.907000	0.53573	8.692000	0.91284	2.840000	0.97914	0.655000	0.94253	GAG	-	pfam_Methyltransf_11		0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	G	NM_014693	-		183975449	1	no_errors	ENST00000402825	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	183975449	G	T	183975449	4	4	203	1	0	0	0	0	0	1	0	0	4892	1059	37	3	391	3	ECE2	3	183975449	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	16975229	183975449	14046981	117	16147											
EIF4A2	1974	genome.wustl.edu	37	chr3	186502839	186502839	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacagttggagattgagttCaaggagacccaagcactagt	11	8	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:186502839C>T	ENST00000323963.5	+	4	361	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RP11-573D15.9_ENST00000577781.1_RNA|SNORA4_ENST00000584302.1_RNA|EIF4A2_ENST00000356531.5_Intron|SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.F100F|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	99	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGATTGAGTTCAAGGAGACCC	0.443			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0								ENSG00000156976						179	169	173					3																	186502839		2203	4300	6503	EIF4A2	SO:0001819	synonymous_variant	0			-	HGNC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.297C>T	3.37:g.186502839C>T		Somatic	0	44	0		0.41568620468393	130	14.94	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F100	ENST00000323963.5	37	c.300	CCDS3282.1	3																																																																																			-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	protein_coding	OTTHUMT00000344609.1	C	NM_001967	-		186502839	1	no_errors	ENST00000440191	ensembl	human	known	74_37	silent	SNP	1.000	T	T	186502839	C	T	186502839	2	4	203	1	0	0	0	0	0	0	0	1	5027	825	29	2		2	EIF4A2	3	186502839	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2527390	186502839	11519591	118	16148											
KIAA0226	9711	genome.wustl.edu	37	chr3	197444872	197444872	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacggataagcccgtgataGaggatgctctgcatgtccct	11	11	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr3:197444872G>A	ENST00000296343.5	-	2	194	c.195C>T	c.(193-195)ctC>ctT	p.L65L	KIAA0226_ENST00000273582.5_Silent_p.L5L|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000389665.5_Silent_p.L65L|KIAA0226_ENST00000449205.1_Silent_p.L65L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	65	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCCCGTGATAGAGGATGCTCT	0.522																																					Esophageal Squamous(3;167 355 3763 15924)												0								ENSG00000145016						69	71	70					3																	197444872		1974	4152	6126	KIAA0226	SO:0001819	synonymous_variant	0			-	HGNC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.195C>T	3.37:g.197444872G>A		Somatic	0	33	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q96CK5	Silent	SNP							pfam_Run,smart_Run,pfscan_Run	p.L65	ENST00000296343.5	37	c.195	CCDS43195.1	3																																																																																			-	pfam_Run,pfscan_Run		0.522	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	protein_coding	OTTHUMT00000340184.1	G	XM_032901	-		197444872	-1	no_errors	ENST00000296343	ensembl	human	known	74_37	silent	SNP	0.995	A	A	197444872	G	A	197444872	2	1	203	1	0	0	0	0	0	0	0	1	8164	929	33	2		2	KIAA0226	3	197444872	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	10942033	197444872	577558	119	16149											
STK32B	55351	genome.wustl.edu	37	chr4	5448438	5448438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacatggacagaggccccGgatactcgtaccctgtcgac	11	13	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:5448438G>A	ENST00000282908.5	+	7	1023	c.601G>A	c.(601-603)Gga>Aga	p.G201R	STK32B_ENST00000512636.1_Missense_Mutation_p.G124R|STK32B_ENST00000510398.1_Missense_Mutation_p.G154R|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.G201R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAGGCCCCGGATACTCGTA	0.577																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)						ENSG00000152953						88	80	83					4																	5448438		2203	4300	6503	STK32B	SO:0001583	missense	0			-	HGNC	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.601G>A	4.37:g.5448438G>A	ENSP00000282908:p.Gly201Arg	Somatic	0	90	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G201R	ENST00000282908.5	37	c.601	CCDS3380.1	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192624	0.78902	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.66280	-0.2;-0.2;-0.2	5.39	5.39	0.77823	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	0.43747	U	0.000524	T	0.74427	0.3715	L	0.48218	1.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.76589	-0.2904	10	0.87932	D	0	.	16.6579	0.85233	0.0:0.0:1.0:0.0	.	201	Q9NY57	ST32B_HUMAN	R	201;124;154	ENSP00000282908:G201R;ENSP00000423209:G124R;ENSP00000420984:G154R	ENSP00000282908:G201R	G	+	1	0	STK32B	5499339	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	5.332000	0.65911	2.523000	0.85059	0.561000	0.74099	GGA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.577	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	protein_coding	OTTHUMT00000206854.4	G	NM_018401	-		5448438	1	no_errors	ENST00000282908	ensembl	human	known	74_37	missense	SNP	0.986	A	A	5448438	G	A	5448438	3	1	203	1	0	0	0	0	1	0	0	0	15305	1117	39	1	627	1	STK32B	4	5448438	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		5448438	185705838	120	16150											
ARAP2	116984	genome.wustl.edu	37	chr4	36126536	36126536	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctcggttgacccctggaaGagaacgtataaatgctccat	10	10	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:36126536G>A	ENST00000303965.4	-	22	4183	c.3694C>T	c.(3694-3696)Ctt>Ttt	p.L1232F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1232	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						ACCCCTGGAAGAGAACGTATA	0.368																																																	0								ENSG00000047365						177	177	177					4																	36126536		2203	4300	6503	ARAP2	SO:0001583	missense	0			-	HGNC	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.3694C>T	4.37:g.36126536G>A	ENSP00000302895:p.Leu1232Phe	Somatic	0	51	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1232F	ENST00000303965.4	37	c.3694	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863834	0.71949	.	.	ENSG00000047365	ENST00000303965	T	0.42513	0.97	5.24	5.24	0.73138	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.081511	0.49305	D	0.000143	T	0.65678	0.2714	M	0.88979	2.995	0.47441	D	0.99942	D	0.56968	0.978	P	0.58721	0.844	T	0.73379	-0.4001	10	0.87932	D	0	.	14.4331	0.67264	0.0:0.1472:0.8528:0.0	.	1232	Q8WZ64	ARAP2_HUMAN	F	1232	ENSP00000302895:L1232F	ENSP00000302895:L1232F	L	-	1	0	ARAP2	35802931	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	3.708000	0.54845	2.443000	0.82685	0.585000	0.79938	CTT	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	G	NM_015230	-		36126536	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	0.966	A	A	36126536	G	A	36126536	3	1	203	1	0	0	0	0	1	0	0	0	839	942	33	2	1468	2	ARAP2	4	36126536	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	30678098	36126536	155027740	121	16151											
ARAP2	116984	genome.wustl.edu	37	chr4	36214909	36214909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaaaggtctctccataagGaaagatggaagatgaattct	11	5	2	4	rs141950924		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:36214909G>A	ENST00000303965.4	-	4	1486	c.997C>T	c.(997-999)Cct>Tct	p.P333S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	333					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)	p.P333S(1)		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						TCTCCATAAGGAAAGATGGAA	0.323																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000047365						66	71	70					4																	36214909		2202	4299	6501	ARAP2	SO:0001583	missense	0			-	HGNC	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.997C>T	4.37:g.36214909G>A	ENSP00000302895:p.Pro333Ser	Somatic	0	71	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	46	11.54	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.P333S	ENST00000303965.4	37	c.997	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291236	0.80914	.	.	ENSG00000047365	ENST00000303965	T	0.26223	1.75	5.57	5.57	0.84162	.	0.167718	0.42548	D	0.000695	T	0.50051	0.1593	M	0.68952	2.095	0.41384	D	0.98757	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.49380	-0.8946	10	0.87932	D	0	.	15.4084	0.74900	0.0:0.0:1.0:0.0	.	263;333	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	S	333	ENSP00000302895:P333S	ENSP00000302895:P333S	P	-	1	0	ARAP2	35891304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.702000	0.61817	2.785000	0.95823	0.591000	0.81541	CCT	-	NULL		0.323	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	G	NM_015230	rs141950924		36214909	-1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36214909	G	A	36214909	3	1	203	1	0	0	0	0	1	0	0	0	839	1174	41	2	4237	2	ARAP2	4	36214909	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	88373	36214909	154939367	122	16152											
KIAA1211	57482	genome.wustl.edu	37	chr4	57180968	57180968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagaggctcgaagaccagGaacgcctgaaacccgaagga	14	10	0	3	rs112098777	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:57180968G>A	ENST00000504228.1	+	6	1405	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E427K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E434K			Q6ZU35	K1211_HUMAN	KIAA1211	434	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGAAGACCAGGAACGCCTGAA	0.612																																																	0								ENSG00000109265						22	29	27					4																	57180968		2021	4177	6198	KIAA1211	SO:0001583	missense	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1300G>A	4.37:g.57180968G>A	ENSP00000423366:p.Glu434Lys	Somatic	0	176	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	83	17.82	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP							NULL	p.E434K	ENST00000504228.1	37	c.1300	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621063	0.28889	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.13196	2.62;2.62;2.61	5.03	2.99	0.34606	.	.	.	.	.	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.19391	0.025;0.004;0.004	T	0.24728	-1.0152	9	0.66056	D	0.02	-1.7114	5.6485	0.17602	0.2257:0.1635:0.6108:0.0	.	427;427;434	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	434;434;427;344	ENSP00000264229:E434K;ENSP00000423366:E434K;ENSP00000444006:E427K	ENSP00000264229:E434K	E	+	1	0	KIAA1211	56875725	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.474000	0.22148	1.098000	0.41479	0.462000	0.41574	GAA	-	NULL		0.612	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	G	NM_020722	-		57180968	1	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	SNP	0.000	A	A	57180968	G	A	57180968	3	1	203	1	0	0	0	0	1	0	0	0	8217	1175	41	2	1318	2	KIAA1211	4	57180968	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	20966059	57180968	133973308	123	16153											
FRAS1	80144	genome.wustl.edu	37	chr4	79366786	79366786	+	Missense_Mutation	SNP	C	C	T													gtgttcatgaaagcattgagCcaacccatgatatttttagt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:79366786C>T	ENST00000325942.6	+	42	6216	c.5776C>T	c.(5776-5778)Cca>Tca	p.P1926S	FRAS1_ENST00000264895.6_Missense_Mutation_p.P1926S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1926					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						AAGCATTGAGCCAACCCATGA	0.403																																																	0								ENSG00000138759						219	216	217					4																	79366786		1893	4118	6011	FRAS1	SO:0001583	missense	0			-	HGNC	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.5776C>T	4.37:g.79366786C>T	ENSP00000326330:p.Pro1926Ser	Somatic	0	69	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.P1926S	ENST00000325942.6	37	c.5776	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.746216|4.746216	0.89663|0.89663	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000510944;ENST00000512123|ENST00000325942;ENST00000264895	.|T;T	.|0.52754	.|0.65;0.65	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.177571	.|0.51477	.|D	.|0.000095	T|T	0.63510|0.63510	0.2517|0.2517	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.981	.|P;P	.|0.55615	.|0.78;0.715	T|T	0.63198|0.63198	-0.6691|-0.6691	5|10	.|0.62326	.|D	.|0.03	.|.	20.394|20.394	0.98981|0.98981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1926;1926	.|E9PHH6;A2RRR8	.|.;.	V|S	375;154|1926	.|ENSP00000326330:P1926S;ENSP00000264895:P1926S	.|ENSP00000264895:P1926S	A|P	+|+	2|1	0|0	FRAS1|FRAS1	79585810|79585810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.741000|3.741000	0.55090|0.55090	2.830000|2.830000	0.97506|0.97506	0.585000|0.585000	0.79938|0.79938	GCC|CCA	-	NULL		0.403	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	C		-		79366786	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79366786	C	T	79366786	3	4	203	1	0	0	0	0	1	0	0	0	6044	739	26	2	5942	2	FRAS1	4	79366786	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	22185818	79366786	111787490	124	16154	417	2									
FRAS1	80144	genome.wustl.edu	37	chr4	79366787	79366787	+	Missense_Mutation	SNP	C	C	T													tgttcatgaaagcattgagcCaacccatgatatttttagtt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:79366787C>T	ENST00000325942.6	+	42	6217	c.5777C>T	c.(5776-5778)cCa>cTa	p.P1926L	FRAS1_ENST00000264895.6_Missense_Mutation_p.P1926L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1926					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						AGCATTGAGCCAACCCATGAT	0.403																																																	0								ENSG00000138759						219	216	217					4																	79366787		1893	4117	6010	FRAS1	SO:0001583	missense	0			-	HGNC	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.5777C>T	4.37:g.79366787C>T	ENSP00000326330:p.Pro1926Leu	Somatic	0	67	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.P1926L	ENST00000325942.6	37	c.5777	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961506	0.74016	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.53423	0.62;0.62	5.96	5.96	0.96718	.	0.177571	0.51477	D	0.000095	T	0.67011	0.2848	M	0.83384	2.64	0.80722	D	1	D;D	0.58620	0.983;0.963	P;P	0.53006	0.677;0.715	T	0.71013	-0.4715	10	0.72032	D	0.01	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	1926;1926	E9PHH6;A2RRR8	.;.	L	1926	ENSP00000326330:P1926L;ENSP00000264895:P1926L	ENSP00000264895:P1926L	P	+	2	0	FRAS1	79585811	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	3.633000	0.54295	2.830000	0.97506	0.585000	0.79938	CCA	-	NULL		0.403	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	C		-		79366787	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	79366787	C	T	79366787	3	4	203	1	0	0	0	0	1	0	0	0	6044	594	21	2	5943	2	FRAS1	4	79366787	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	79366787	111787489	125	16155	417	2									
MMRN1	22915	genome.wustl.edu	37	chr4	90874525	90874525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacaattccagccaagtttCcccctgttactacatttagt	5	12	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:90874525C>T	ENST00000394980.1	+	9	3962	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	MMRN1_ENST00000264790.2_Missense_Mutation_p.P1215S|MMRN1_ENST00000394981.1_Missense_Mutation_p.P518S|MMRN1_ENST00000508372.1_Missense_Mutation_p.P957S			Q13201	MMRN1_HUMAN	multimerin 1	1215	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGCCAAGTTTCCCCCTGTTAC	0.363																																																	0								ENSG00000138722						60	61	61					4																	90874525		2203	4300	6503	MMRN1	SO:0001583	missense	0			-	HGNC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3643C>T	4.37:g.90874525C>T	ENSP00000378431:p.Pro1215Ser	Somatic	0	80	0		0.41568620468393	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP							pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.P1215S	ENST00000394980.1	37	c.3643	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819990	0.71028	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.25	5.25	0.73442	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000006	D	0.84786	0.5549	M	0.62723	1.935	0.43512	D	0.99577	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85022	0.0912	10	0.59425	D	0.04	.	17.9019	0.88906	0.0:1.0:0.0:0.0	.	518;1215	Q13201-2;Q13201	.;MMRN1_HUMAN	S	1215;1215;518;957	ENSP00000378431:P1215S;ENSP00000264790:P1215S;ENSP00000378432:P518S;ENSP00000426461:P957S	ENSP00000264790:P1215S	P	+	1	0	MMRN1	91093548	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	4.991000	0.63883	2.833000	0.97629	0.585000	0.79938	CCC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	C	NM_007351	-		90874525	1	no_errors	ENST00000264790	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90874525	C	T	90874525	3	4	203	1	0	0	0	0	1	0	0	0	9672	855	30	2	3673	2	MMRN1	4	90874525	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	11507738	90874525	100279751	126	16156											
BDH2	56898	genome.wustl.edu	37	chr4	104006543	104006543	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacctgatgccctgctggatGaaatctgcagccacagattt	9	12	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:104006543G>A	ENST00000296424.4	-	7	615	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	165					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CCTGCTGGATGAAATCTGCAG	0.493																																																	0								ENSG00000164039						57	47	51					4																	104006543		2203	4299	6502	BDH2	SO:0001819	synonymous_variant	0			-	HGNC	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.495C>T	4.37:g.104006543G>A		Somatic	0	74	0		0.41568620468393	57	8.06	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.F165	ENST00000296424.4	37	c.495	CCDS3663.1	4																																																																																			-	prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR		0.493	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	protein_coding	OTTHUMT00000157159.2	G	NM_020139	-		104006543	-1	no_errors	ENST00000296424	ensembl	human	known	74_37	silent	SNP	1.000	A	A	104006543	G	A	104006543	2	1	203	1	0	0	0	0	0	0	0	1	1391	1281	45	2		2	BDH2	4	104006543	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	13132018	104006543	87147733	127	16157											
COL25A1	84570	genome.wustl.edu	37	chr4	109753543	109753543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaacaacttactctttctCctttgggacctgcagggcca	8	13	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:109753543C>T	ENST00000399132.1	-	32	2233	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E	COL25A1_ENST00000399126.1_Missense_Mutation_p.G568E|COL25A1_ENST00000399127.1_Missense_Mutation_p.G580E	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)		TACTCTTTCTCCTTTGGGACC	0.378																																																	0								ENSG00000188517						61	58	59					4																	109753543		1816	4077	5893	COL25A1	SO:0001583	missense	0			-	HGNC	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.1703G>A	4.37:g.109753543C>T	ENSP00000382083:p.Gly568Glu	Somatic	0	48	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62		Missense_Mutation	SNP							pfam_Collagen	p.G568E	ENST00000399132.1	37	c.1703	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240039	0.58995	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126	D;D;D	0.99619	-6.28;-5.77;-6.28	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.95470	3.675	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97383	0.9984	9	.	.	.	-7.9316	20.1325	0.98004	0.0:1.0:0.0:0.0	.	568;568	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	568;570;549;580;568	ENSP00000382083:G568E;ENSP00000382078:G580E;ENSP00000382077:G568E	.	G	-	2	0	COL25A1	109972992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.871000	0.69628	2.839000	0.97877	0.650000	0.86243	GGA	-	pfam_Collagen		0.378	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	protein_coding	OTTHUMT00000315938.2	C	NM_032518	-		109753543	-1	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109753543	C	T	109753543	3	4	203	1	0	0	0	0	1	0	0	0	3686	855	30	2	373	2	COL25A1	4	109753543	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	5747000	109753543	81400733	128	16158											
C4orf21	55345	genome.wustl.edu	37	chr4	113460790	113460790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttcaaaataatctttaagGagatggttcagctgtggttc	9	5	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:113460790G>A	ENST00000505019.1	-	28	6353	c.6228C>T	c.(6226-6228)ctC>ctT	p.L2076L	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2076						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATCTTTAAGGAGATGGTTCA	0.318																																																	0								ENSG00000138658						82	79	80					4																	113460790		2203	4300	6503	C4orf21	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000505019.1:c.6228C>T	4.37:g.113460790G>A		Somatic	0	66	0		0.41568620468393	12	14.29	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP							pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.L2076	ENST00000505019.1	37	c.6228		4																																																																																			-	NULL		0.318	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	protein_coding	OTTHUMT00000256413.1	G		-		113460790	-1	no_errors	ENST00000505019	ensembl	human	known	74_37	silent	SNP	0.325	A	A	113460790	G	A	113460790	2	1	203	1	0	0	0	0	0	0	0	1	2256	1161	41	2		2	C4orf21	4	113460790	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3707247	113460790	77693486	129	16159											
ANK2	287	genome.wustl.edu	37	chr4	114275648	114275648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaacagctgggaaaactgaGaagcacctgcctgtgtcacc	10	12	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:114275648G>A	ENST00000357077.4	+	38	5927	c.5874G>A	c.(5872-5874)gaG>gaA	p.E1958E	ANK2_ENST00000264366.6_Silent_p.E1925E|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1958	Repeat-rich region.				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)		GGAAAACTGAGAAGCACCTGC	0.512																																																	0								ENSG00000145362						79	80	80					4																	114275648		2203	4300	6503	ANK2	SO:0001819	synonymous_variant	0			-	HGNC	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.5874G>A	4.37:g.114275648G>A		Somatic	0	76	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E1958	ENST00000357077.4	37	c.5874	CCDS3702.1	4																																																																																			-	NULL		0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	G	NM_001148	-		114275648	1	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	SNP	0.161	A	A	114275648	G	A	114275648	2	1	203	1	0	0	0	0	0	0	0	1	621	933	33	2		2	ANK2	4	114275648	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	814858	114275648	76878628	130	16160											
FAT4	79633	genome.wustl.edu	37	chr4	126241960	126241960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatcattcaacagatgccaaGaggcaaccactttaccatag	6	11	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:126241960G>A	ENST00000394329.3	+	1	4407	c.4394G>A	c.(4393-4395)aGa>aAa	p.R1465K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1465	Cadherin 14. {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						CAGATGCCAAGAGGCAACCAC	0.398																																																	0								ENSG00000196159						118	106	110					4																	126241960		1899	4121	6020	FAT4	SO:0001583	missense	0			-	HGNC	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.4394G>A	4.37:g.126241960G>A	ENSP00000377862:p.Arg1465Lys	Somatic	0	37	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R1465K	ENST00000394329.3	37	c.4394	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759699	0.69763	.	.	ENSG00000196159	ENST00000394329	T	0.60672	0.17	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.32055	U	0.006651	T	0.54498	0.1862	N	0.05414	-0.055	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.48703	-0.9012	10	0.06625	T	0.88	.	18.1883	0.89799	0.0:0.0:1.0:0.0	.	1465	Q6V0I7	FAT4_HUMAN	K	1465	ENSP00000377862:R1465K	ENSP00000377862:R1465K	R	+	2	0	FAT4	126461410	1.000000	0.71417	0.989000	0.46669	0.926000	0.56050	7.480000	0.81109	2.535000	0.85469	0.655000	0.94253	AGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	G	NM_024582	-		126241960	1	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	SNP	0.967	A	A	126241960	G	A	126241960	3	1	203	1	0	0	0	0	1	0	0	0	5694	942	33	2	4396	2	FAT4	4	126241960	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	11966312	126241960	64912316	131	16161											
TLR2	7097	genome.wustl.edu	37	chr4	154624495	154624495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggggaaacatctctttttTctcatctcacaaaattgcaa	5	9	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:154624495T>G	ENST00000260010.6	+	1	1844	c.436T>G	c.(436-438)Tct>Gct	p.S146A		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	146					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	ATCTCTTTTTTCTCATCTCAC	0.373																																																	0								ENSG00000137462						45	50	48					4																	154624495		2196	4299	6495	TLR2	SO:0001583	missense	0			-	HGNC	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.436T>G	4.37:g.154624495T>G	ENSP00000260010:p.Ser146Ala	Somatic	0	31	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP							pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S146A	ENST00000260010.6	37	c.436	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	T	9.680	1.148970	0.21288	.	.	ENSG00000137462	ENST00000260010	T	0.01025	5.43	5.81	1.58	0.23477	.	0.559647	0.19389	N	0.115446	T	0.00845	0.0028	N	0.20845	0.615	0.23416	N	0.997723	B	0.11235	0.004	B	0.27887	0.084	T	0.47898	-0.9081	10	0.25751	T	0.34	.	8.2469	0.31693	0.0:0.0678:0.3764:0.5557	.	146	O60603	TLR2_HUMAN	A	146	ENSP00000260010:S146A	ENSP00000260010:S146A	S	+	1	0	TLR2	154843945	0.029000	0.19370	0.874000	0.34290	0.856000	0.48823	0.132000	0.15891	0.395000	0.25257	0.533000	0.62120	TCT	-	pirsf_Toll-like_receptor		0.373	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	protein_coding	OTTHUMT00000365205.1	T		-		154624495	1	no_errors	ENST00000260010	ensembl	human	known	74_37	missense	SNP	0.987	G	G	154624495	T	G	154624495	3	3	203	1	0	0	0	0	1	0	0	0	15958	1783	62	5	438	5	TLR2	4	154624495	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	28382535	154624495	36529781	132	16162											
NEK1	4750	genome.wustl.edu	37	chr4	170359399	170359399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtttgtacttttccccttCgggagaaatctctgtgaaaa	10	8	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:170359399C>T	ENST00000439128.2	-	26	3155	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	NEK1_ENST00000507142.1_Missense_Mutation_p.E867K|NEK1_ENST00000511633.1_Missense_Mutation_p.E823K|NEK1_ENST00000512193.1_Missense_Mutation_p.E770K|NEK1_ENST00000510533.1_Missense_Mutation_p.E795K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	839					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTTCCCCTTCGGGAGAAATC	0.343																																																	0								ENSG00000137601						99	88	91					4																	170359399		1780	4037	5817	NEK1	SO:0001583	missense	0			-	HGNC	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2515G>A	4.37:g.170359399C>T	ENSP00000408020:p.Glu839Lys	Somatic	0	35	0		0.41568620468393	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E867K	ENST00000439128.2	37	c.2599	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809600	0.16537	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.68903	-0.36;-0.35;-0.36;-0.36;-0.35	5.52	2.55	0.30701	.	0.969423	0.08514	N	0.934452	T	0.50274	0.1606	L	0.31294	0.92	0.30983	N	0.722271	B;B;B;B;B	0.20550	0.046;0.018;0.005;0.046;0.001	B;B;B;B;B	0.13407	0.006;0.009;0.006;0.009;0.002	T	0.47182	-0.9137	10	0.18710	T	0.47	.	6.3677	0.21463	0.0:0.6657:0.1507:0.1836	.	770;823;867;795;839	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	K	839;823;795;867;770	ENSP00000408020:E839K;ENSP00000423332:E823K;ENSP00000427653:E795K;ENSP00000424757:E867K;ENSP00000424938:E770K	ENSP00000408020:E839K	E	-	1	0	NEK1	170595974	0.967000	0.33354	0.811000	0.32455	0.054000	0.15201	0.516000	0.22817	0.678000	0.31325	0.650000	0.86243	GAA	-	NULL		0.343	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	protein_coding	OTTHUMT00000363157.3	C		-		170359399	-1	no_errors	ENST00000507142	ensembl	human	known	74_37	missense	SNP	0.896	T	T	170359399	C	T	170359399	3	4	203	1	0	0	0	0	1	0	0	0	10323	893	31	1	1297	1	NEK1	4	170359399	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	15734904	170359399	20794877	133	16163											
CCDC111	201973	genome.wustl.edu	37	chr4	185599481	185599481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagataacaaattttttCctatacagtcaaaagatgtt	5	6	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:185599481C>T	ENST00000314970.6	+	8	1373	c.940C>T	c.(940-942)Cct>Tct	p.P314S	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.P314S|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.P185S|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.P314S	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	314					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										CAAATTTTTTCCTATACAGTC	0.328																																																	0								ENSG00000164306						49	51	51					4																	185599481		2201	4291	6492	PRIMPOL	SO:0001583	missense	0			-	HGNC	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.940C>T	4.37:g.185599481C>T	ENSP00000313816:p.Pro314Ser	Somatic	0	47	0		0.41568620468393	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP							pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S	p.P314S	ENST00000314970.6	37	c.940	CCDS3837.1	4	.	.	.	.	.	.	.	.	.	.	C	7.407	0.633957	0.14322	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.32515	1.46;1.45;1.46;1.45	5.95	5.95	0.96441	.	0.310402	0.34700	N	0.003759	T	0.29355	0.0731	M	0.66506	2.035	0.40883	D	0.984013	B;B	0.31227	0.314;0.177	B;B	0.25405	0.06;0.048	T	0.10086	-1.0645	10	0.07813	T	0.8	-22.4777	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	314;314	Q96LW4;D6RDM1	CC111_HUMAN;.	S	314;185;314;314	ENSP00000313816:P314S;ENSP00000421913:P185S;ENSP00000420860:P314S;ENSP00000425316:P314S	ENSP00000313816:P314S	P	+	1	0	CCDC111	185836475	0.672000	0.27530	0.976000	0.42696	0.049000	0.14656	2.444000	0.44890	2.824000	0.97209	0.655000	0.94253	CCT	-	NULL		0.328	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRIMPOL	protein_coding	OTTHUMT00000360827.1	C	NM_152683	-		185599481	1	no_errors	ENST00000314970	ensembl	human	known	74_37	missense	SNP	0.921	T	T	185599481	C	T	185599481	3	4	203	1	0	0	0	0	1	0	0	0	2750	855	30	2	962	2	CCDC111	4	185599481	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	15240082	185599481	5554795	134	16164											
TLR3	7098	genome.wustl.edu	37	chr4	187003983	187003983	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcacaggattgataaacctGaaatacttaagtctatccaa	5	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:187003983G>A	ENST00000296795.3	+	4	1247	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L	TLR3_ENST00000504367.1_Silent_p.L104L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	381					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGATAAACCTGAAATACTTAA	0.338																																																	0								ENSG00000164342						59	57	58					4																	187003983		2203	4300	6503	TLR3	SO:0001819	synonymous_variant	0			-	HGNC	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1143G>A	4.37:g.187003983G>A		Somatic	0	35	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP							pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L381	ENST00000296795.3	37	c.1143	CCDS3846.1	4																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.338	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	G		-		187003983	1	no_errors	ENST00000296795	ensembl	human	known	74_37	silent	SNP	0.939	A	A	187003983	G	A	187003983	2	1	203	1	0	0	0	0	0	0	0	1	15959	1277	45	2		2	TLR3	4	187003983	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1404502	187003983	4150293	135	16165											
F11	2160	genome.wustl.edu	37	chr4	187207625	187207625	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagaaatgtaatatacactGattgctgggtgactggatgg	12	4	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr4:187207625G>A	ENST00000403665.2	+	13	1889	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	F11_ENST00000264692.4_Missense_Mutation_p.D461N|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	513	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AATATACACTGATTGCTGGGT	0.378																																																	0								ENSG00000088926						144	156	152					4																	187207625		2203	4300	6503	F11	SO:0001583	missense	0			-	HGNC	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1537G>A	4.37:g.187207625G>A	ENSP00000384957:p.Asp513Asn	Somatic	0	64	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.D513N	ENST00000403665.2	37	c.1537	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.251032	0.01469	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.88431	-2.38;-2.38	5.25	4.41	0.53225	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.423693	0.24269	N	0.040015	T	0.71434	0.3339	N	0.02916	-0.46	0.31756	N	0.63394	B	0.13145	0.007	B	0.12156	0.007	T	0.63629	-0.6594	10	0.05620	T	0.96	.	12.7894	0.57523	0.076:0.0:0.924:0.0	.	513	P03951	FA11_HUMAN	N	513;461	ENSP00000384957:D513N;ENSP00000264692:D461N	ENSP00000264692:D461N	D	+	1	0	F11	187444619	0.026000	0.19158	0.046000	0.18839	0.064000	0.16182	0.229000	0.17833	1.578000	0.49821	0.655000	0.94253	GAT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.378	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	protein_coding	OTTHUMT00000317519.4	G		-		187207625	1	no_errors	ENST00000403665	ensembl	human	known	74_37	missense	SNP	0.851	A	A	187207625	G	A	187207625	3	1	203	1	0	0	0	0	1	0	0	0	5339	1290	45	2	1583	2	F11	4	187207625	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	203642	187207625	3946651	136	16166											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	162045	162045	+	Missense_Mutation	SNP	G	G	A													ccaggtggacccgctcgtccGagttgtgcgagacggtaaga					rs568109142		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:162045G>A	ENST00000283426.6	+	10	1617	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	523							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCGCTCGTCCGAGTTGTGCGA	0.627													G|||	1	0.000199681	0	0	5008	,	,		15391	0.001		0	False		,,,				2504	0																0								ENSG00000153404						63	52	56					5																	162045		2203	4300	6503	PLEKHG4B	SO:0001583	missense	0			-	HGNC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1567G>A	5.37:g.162045G>A	ENSP00000283426:p.Glu523Lys	Somatic	0	67	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21		Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E523K	ENST00000283426.6	37	c.1567	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157777	0.21454	.	.	ENSG00000153404	ENST00000283426	D	0.92348	-3.02	2.59	-0.499	0.12015	.	.	.	.	.	D	0.82651	0.5083	L	0.29908	0.895	0.09310	N	1	B	0.23058	0.079	B	0.15052	0.012	T	0.65203	-0.6225	9	0.15499	T	0.54	.	5.4779	0.16706	0.4516:0.0:0.5484:0.0	.	523	Q96PX9	PKH4B_HUMAN	K	523	ENSP00000283426:E523K	ENSP00000283426:E523K	E	+	1	0	PLEKHG4B	215045	0.992000	0.36948	0.000000	0.03702	0.001000	0.01503	1.197000	0.32211	-0.530000	0.06349	-0.375000	0.07067	GAG	-	NULL		0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	G	NM_052909	-		162045	1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	SNP	0.001	A	A	162045	G	A	162045	3	1	203	1	0	0	0	0	1	0	0	0	12074	1059	37	1	1605	1	PLEKHG4B	5	162045	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		162045	180753215	137	16167	418	2									
PLEKHG4B	153478	genome.wustl.edu	37	chr5	162046	162046	+	Missense_Mutation	SNP	A	A	C													caggtggacccgctcgtccgAgttgtgcgagacggtaagag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:162046A>C	ENST00000283426.6	+	10	1618	c.1568A>C	c.(1567-1569)gAg>gCg	p.E523A		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	523							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGCTCGTCCGAGTTGTGCGAG	0.632																																																	0								ENSG00000153404						64	53	57					5																	162046		2203	4300	6503	PLEKHG4B	SO:0001583	missense	0			-	HGNC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1568A>C	5.37:g.162046A>C	ENSP00000283426:p.Glu523Ala	Somatic	0	66	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33		Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E523A	ENST00000283426.6	37	c.1568	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	A	8.287	0.816753	0.16607	.	.	ENSG00000153404	ENST00000283426	D	0.92249	-3.0	2.59	-0.487	0.12060	.	.	.	.	.	D	0.83142	0.5190	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65315	-0.6198	9	0.14252	T	0.57	.	6.6947	0.23193	0.523:0.477:0.0:0.0	.	523	Q96PX9	PKH4B_HUMAN	A	523	ENSP00000283426:E523A	ENSP00000283426:E523A	E	+	2	0	PLEKHG4B	215046	0.999000	0.42202	0.000000	0.03702	0.002000	0.02628	3.227000	0.51262	-0.363000	0.08101	-0.661000	0.03856	GAG	-	NULL		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	A	NM_052909	-		162046	1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	SNP	0.003	C	C	162046	A	C	162046	3	2	203	1	0	0	0	0	1	0	0	0	12074	304	11	5	1606	5	PLEKHG4B	5	162046	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	1	162046	180753214	138	16168	418	2									
CDH10	1008	genome.wustl.edu	37	chr5	24537506	24537506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctacaacagacatttcgGgaacactagctgtatagatt	7	9	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:24537506G>A	ENST00000264463.4	-	3	1016	c.509C>T	c.(508-510)cCc>cTc	p.P170L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	170	Cadherin 2. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGACATTTCGGGAACACTAGC	0.338										HNSCC(23;0.051)																																							0								ENSG00000040731						137	142	141					5																	24537506		2203	4299	6502	CDH10	SO:0001583	missense	0			-	HGNC	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.509C>T	5.37:g.24537506G>A	ENSP00000264463:p.Pro170Leu	Somatic	0	49	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	Q9ULB3	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P170L	ENST00000264463.4	37	c.509	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139410	0.56936	.	.	ENSG00000040731	ENST00000264463	T	0.55234	0.53	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68100	-0.5498	10	0.87932	D	0	.	18.8595	0.92266	0.0:0.0:1.0:0.0	.	170	Q9Y6N8	CAD10_HUMAN	L	170	ENSP00000264463:P170L	ENSP00000264463:P170L	P	-	2	0	CDH10	24573263	1.000000	0.71417	0.995000	0.50966	0.062000	0.15995	9.869000	0.99810	2.701000	0.92244	0.557000	0.71058	CCC	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.338	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	protein_coding	OTTHUMT00000207345.2	G	NM_006727	-		24537506	-1	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24537506	G	A	24537506	3	1	203	1	0	0	0	0	1	0	0	0	3098	1232	43	2	1897	2	CDH10	5	24537506	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	24375460	24537506	156377754	139	16169											
SPEF2	79925	genome.wustl.edu	37	chr5	35753864	35753864	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcttttccctgatgcagGtaagagcagctggtcacaat	9	9	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:35753864G>A	ENST00000356031.3	+	24	3622		c.e24+1		CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Splice_Site	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGATGCAGGTAAGAGCAGC	0.478																																																	0								ENSG00000152582						103	107	106					5																	35753864		1954	4157	6111	SPEF2	SO:0001630	splice_region_variant	0			-	HGNC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3468+1G>A	5.37:g.35753864G>A		Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Splice_Site	SNP							-	e24+1	ENST00000356031.3	37	c.3468+1	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503168	0.64298	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0136	0.92884	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPEF2	35789621	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.039000	0.76544	2.673000	0.90976	0.491000	0.48974	.	-	-		0.478	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	protein_coding	OTTHUMT00000367199.1	G	NM_144722	-	Intron	35753864	1	no_errors	ENST00000356031	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	35753864	G	A	35753864	5	1	203	1	0	0	0	0	0	0	1	0	15042	1275	44	2	3584	2	SPEF2	5	35753864	Splice_Site	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	11216358	35753864	145161396	140	16170											
C9	735	genome.wustl.edu	37	chr5	39341679	39341679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgcattgaaagtcatTtccgcagtcatcctcagcat	7	11	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:39341679T>C	ENST00000263408.4	-	3	402	c.307A>G	c.(307-309)Aat>Gat	p.N103D	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	103	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGAAAGTCATTTCCGCAGTCA	0.448																																																	0								ENSG00000113600						112	99	103					5																	39341679		2203	4300	6503	C9	SO:0001583	missense	0			-	HGNC		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.307A>G	5.37:g.39341679T>C	ENSP00000263408:p.Asn103Asp	Somatic	0	58	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43		Missense_Mutation	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.N103D	ENST00000263408.4	37	c.307	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352547	0.24512	.	.	ENSG00000113600	ENST00000263408	D	0.87809	-2.3	5.51	3.14	0.36123	.	0.262157	0.42964	D	0.000633	T	0.72598	0.3480	N	0.11131	0.1	0.32329	N	0.561303	P	0.43231	0.801	B	0.40741	0.339	T	0.73591	-0.3934	10	0.22706	T	0.39	-20.6868	8.7657	0.34702	0.0:0.1572:0.0:0.8428	.	103	P02748	CO9_HUMAN	D	103	ENSP00000263408:N103D	ENSP00000263408:N103D	N	-	1	0	C9	39377436	0.000000	0.05858	0.745000	0.31077	0.084000	0.17831	0.089000	0.15002	0.920000	0.36970	0.459000	0.35465	AAT	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.448	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	protein_coding	OTTHUMT00000211576.3	T		-		39341679	-1	no_errors	ENST00000263408	ensembl	human	known	74_37	missense	SNP	0.922	C	C	39341679	T	C	39341679	3	2	203	1	0	0	0	0	1	0	0	0	2445	1841	64	5	1408	5	C9	5	39341679	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	3587815	39341679	141573581	141	16171											
EMB	133418	genome.wustl.edu	37	chr5	49701670	49701670	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatcaatggcttgtttttCccatgaagttcagggactga	11	7	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:49701670C>T	ENST00000303221.5	-	5	704	c.489G>A	c.(487-489)ggG>ggA	p.G163G	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Silent_p.G113G|EMB_ENST00000508934.1_Silent_p.G109G	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	163	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCTTGTTTTTCCCATGAAGTT	0.338																																																	0								ENSG00000170571						37	39	38					5																	49701670		2198	4285	6483	EMB	SO:0001819	synonymous_variant	0			-	HGNC	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.489G>A	5.37:g.49701670C>T		Somatic	0	111	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	B7Z6S3|B7Z902	Silent	SNP							pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G163	ENST00000303221.5	37	c.489	CCDS3953.1	5																																																																																			-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.338	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	protein_coding	OTTHUMT00000253853.1	C	NM_198449	-		49701670	-1	no_errors	ENST00000303221	ensembl	human	known	74_37	silent	SNP	0.853	T	T	49701670	C	T	49701670	2	4	203	1	0	0	0	0	0	0	0	1	5087	842	30	2		2	EMB	5	49701670	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	10359991	49701670	131213590	142	16172											
ERCC8	1161	genome.wustl.edu	37	chr5	60198336	60198336	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatatttcttgtctgtgacCtgcaaatacaactatatgaa	5	7	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:60198336C>T	ENST00000265038.5	-	7	593		c.e7-1		ERCC8_ENST00000543101.1_Splice_Site|ERCC8_ENST00000462279.1_Splice_Site|ERCC8_ENST00000426742.2_Splice_Site	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TGTCTGTGACCTGCAAATACA	0.338																																																	0			GRCh37	CS073474	ERCC8	S		ENSG00000049167						94	98	97					5																	60198336		2203	4297	6500	ERCC8	SO:0001630	splice_region_variant	0			-	HGNC	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.551-1G>A	5.37:g.60198336C>T		Somatic	0	130	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	67	17.28	B2RB64|Q6FHX5|Q96GB9	Splice_Site	SNP							-	e7-1	ENST00000265038.5	37	c.551-1	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390282	0.82902	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596;ENST00000439176	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.414	0.87494	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC8	60234093	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.685000	0.74543	2.529000	0.85273	0.655000	0.94253	.	-	-		0.338	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	protein_coding	OTTHUMT00000214971.2	C	NM_000082	-	Intron	60198336	-1	no_errors	ENST00000265038	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	60198336	C	T	60198336	5	4	203	1	0	0	0	0	0	0	1	0	5221	695	24	2	664	2	ERCC8	5	60198336	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	10496666	60198336	120716924	143	16173											
MSH3	4437	genome.wustl.edu	37	chr5	80064660	80064660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgattttttagagttggGgataaaactgaattatttaa	8	1	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:80064660G>A	ENST00000265081.6	+	15	2171	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	697					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTAGAGTTGGGGATAAAACTG	0.313								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318						70	81	77					5																	80064660		2197	4289	6486	MSH3	SO:0001819	synonymous_variant	0			-	HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2091G>A	5.37:g.80064660G>A		Somatic	0	90	0		0.41568620468393	8	38.46	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.G697	ENST00000265081.6	37	c.2091	CCDS34195.1	5																																																																																			-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.313	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	G	NM_002439	-		80064660	1	no_errors	ENST00000265081	ensembl	human	known	74_37	silent	SNP	0.992	A	A	80064660	G	A	80064660	2	1	203	1	0	0	0	0	0	0	0	1	9873	1219	43	2		2	MSH3	5	80064660	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	19866324	80064660	100850600	144	16174											
GPR98	84059	genome.wustl.edu	37	chr5	89988518	89988518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaatgatgatccttatGgtacagtagcctttgctcag	9	10	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:89988518G>A	ENST00000405460.2	+	32	7144	c.7048G>A	c.(7048-7050)Ggt>Agt	p.G2350S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2350					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)			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)		TGATCCTTATGGTACAGTAGC	0.408																																																	0								ENSG00000164199						96	91	93					5																	89988518		1868	4099	5967	GPR98	SO:0001583	missense	0			-	HGNC	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.7048G>A	5.37:g.89988518G>A	ENSP00000384582:p.Gly2350Ser	Somatic	0	67	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G2350S	ENST00000405460.2	37	c.7048	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.580593	0.96565	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.47869	0.83	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81335	-0.0979	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2350	Q8WXG9	GPR98_HUMAN	S	2350	ENSP00000384582:G2350S	ENSP00000296619:G2350S	G	+	1	0	GPR98	90024274	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.587000	0.98229	2.824000	0.97209	0.655000	0.94253	GGT	-	NULL		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		89988518	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89988518	G	A	89988518	3	1	203	1	0	0	0	0	1	0	0	0	6723	1348	47	2	7174	2	GPR98	5	89988518	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	9923858	89988518	90926742	145	16175											
MCTP1	79772	genome.wustl.edu	37	chr5	94224612	94224612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcagccattaacccttcCgctctgatgactttcacctg	7	15	2	2	rs571380057		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:94224612C>T	ENST00000515393.1	-	12	1904	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	MCTP1_ENST00000429576.2_Silent_p.A368A|MCTP1_ENST00000505078.1_Silent_p.A151A|MCTP1_ENST00000312216.8_Silent_p.A414A|MCTP1_ENST00000505208.1_Silent_p.A414A	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	635	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTAACCCTTCCGCTCTGATGA	0.438													C|||	1	0.000199681	0	0	5008	,	,		15818	0		0.001	False		,,,				2504	0																0								ENSG00000175471						108	108	108					5																	94224612		2203	4300	6503	MCTP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1905G>A	5.37:g.94224612C>T		Somatic	0	71	0		0.41568620468393	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP							pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.A635	ENST00000515393.1	37	c.1905	CCDS34203.1	5	.	.	.	.	.	.	.	.	.	.	C	9.987	1.229860	0.22542	.	.	ENSG00000175471	ENST00000415885	.	.	.	5.65	-2.62	0.06152	.	.	.	.	.	T	0.58566	0.2131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59611	-0.7422	5	0.72032	D	0.01	-14.0663	6.7496	0.23480	0.1033:0.2565:0.0:0.6402	.	.	.	.	R	236	.	ENSP00000405735:G236R	G	-	1	0	MCTP1	94250368	0.099000	0.21834	0.977000	0.42913	0.948000	0.59901	-0.728000	0.04925	-0.615000	0.05679	-1.099000	0.02127	GGA	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.438	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	protein_coding	OTTHUMT00000370280.3	C	NM_024717	-		94224612	-1	no_errors	ENST00000515393	ensembl	human	known	74_37	silent	SNP	0.905	T	T	94224612	C	T	94224612	2	4	203	1	0	0	0	0	0	0	0	1	9402	639	23	1		1	MCTP1	5	94224612	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4236094	94224612	86690648	146	16176											
PCSK1	5122	genome.wustl.edu	37	chr5	95728839	95728839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtctttaagctgggaagGtttgttcagcttttccaggg	13	6	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:95728839G>A	ENST00000311106.3	-	14	2365	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	PCSK1_ENST00000508626.1_Missense_Mutation_p.P663S|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	710					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGCTGGGAAGGTTTGTTCAGC	0.418																																																	0								ENSG00000175426						123	129	127					5																	95728839		2203	4300	6503	PCSK1	SO:0001583	missense	0			-	HGNC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2128C>T	5.37:g.95728839G>A	ENSP00000308024:p.Pro710Ser	Somatic	0	80	0		0.41568620468393	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.P710S	ENST00000311106.3	37	c.2128	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829656	0.50845	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.65178	0.02;-0.14	5.76	5.76	0.90799	.	0.187119	0.47852	D	0.000202	T	0.54062	0.1835	L	0.47716	1.5	0.40281	D	0.97839	B;B	0.30068	0.267;0.075	B;B	0.22753	0.041;0.018	T	0.51639	-0.8680	10	0.26408	T	0.33	-15.1607	15.903	0.79397	0.0:0.1354:0.8646:0.0	.	663;710	E9PHA1;P29120	.;NEC1_HUMAN	S	710;663	ENSP00000308024:P710S;ENSP00000421600:P663S	ENSP00000308024:P710S	P	-	1	0	PCSK1	95754595	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	3.901000	0.56303	2.713000	0.92767	0.655000	0.94253	CCT	-	NULL		0.418	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	protein_coding	OTTHUMT00000242851.1	G	NM_000439	-		95728839	-1	no_errors	ENST00000311106	ensembl	human	known	74_37	missense	SNP	0.970	A	A	95728839	G	A	95728839	3	1	203	1	0	0	0	0	1	0	0	0	11602	1261	44	2	137	2	PCSK1	5	95728839	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1504227	95728839	85186421	147	16177											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111643171	111643171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacgtggtcaaggacaacgGaacctttcgttgacttctgc	10	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:111643171G>A	ENST00000261486.5	-	2	392	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	39	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AAGGACAACGGAACCTTTCGT	0.388																																																	0								ENSG00000129595						97	91	93					5																	111643171		1868	4104	5972	EPB41L4A	SO:0001583	missense	0			-	HGNC	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.116C>T	5.37:g.111643171G>A	ENSP00000261486:p.Ser39Phe	Somatic	0	58	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A4FUI6	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.S39F	ENST00000261486.5	37	c.116	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991934	0.54041	.	.	ENSG00000129595	ENST00000261486	T	0.78126	-1.15	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.131611	0.53938	D	0.000055	T	0.78566	0.4303	L	0.56340	1.77	0.41865	D	0.990243	P	0.35551	0.509	B	0.38712	0.28	T	0.79715	-0.1687	10	0.87932	D	0	.	19.7087	0.96084	0.0:0.0:1.0:0.0	.	39	Q9HCS5	E41LA_HUMAN	F	39	ENSP00000261486:S39F	ENSP00000261486:S39F	S	-	2	0	EPB41L4A	111671070	1.000000	0.71417	0.426000	0.26672	0.972000	0.66771	5.671000	0.68095	2.754000	0.94517	0.643000	0.83706	TCC	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like		0.388	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	protein_coding	OTTHUMT00000370969.1	G		-		111643171	-1	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	SNP	0.917	A	A	111643171	G	A	111643171	3	1	203	1	0	0	0	0	1	0	0	0	5157	1174	41	2	2032	2	EPB41L4A	5	111643171	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	15914332	111643171	69272089	148	16178											
TSSK1B	83942	genome.wustl.edu	37	chr5	112769637	112769637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtcagagccaggttcGggggtccacaagggttcagt	14	9	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:112769637G>A	ENST00000390666.3	-	1	1091	c.900C>T	c.(898-900)ccC>ccT	p.P300P	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	300					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGCCAGGTTCGGGGGTCCACA	0.622																																																	0								ENSG00000212122						34	38	37					5																	112769637		2110	4256	6366	TSSK1B	SO:0001819	synonymous_variant	0			-	HGNC	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.900C>T	5.37:g.112769637G>A		Somatic	0	63	0		0.41568620468393	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	B2R8D9	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P300	ENST00000390666.3	37	c.900	CCDS4112.1	5																																																																																			-	superfamily_Kinase-like_dom		0.622	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	protein_coding	OTTHUMT00000250774.2	G	NM_032028	-		112769637	-1	no_errors	ENST00000390666	ensembl	human	known	74_37	silent	SNP	0.574	A	A	112769637	G	A	112769637	2	1	203	1	0	0	0	0	0	0	0	1	16675	1103	39	1		1	TSSK1B	5	112769637	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1126466	112769637	68145623	149	16179											
FBN2	2201	genome.wustl.edu	37	chr5	127627260	127627260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagatagtacaaagccagGggggcagaggcactggaagc	15	8	1	2	rs34845843	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:127627260G>A	ENST00000508053.1	-	55	7227	c.6253C>T	c.(6253-6255)Cct>Tct	p.P2085S	FBN2_ENST00000262464.4_Missense_Mutation_p.P2085S			P35556	FBN2_HUMAN	fibrillin 2	2085	EGF-like 35; 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)			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)		ACAAAGCCAGGGGGGCAGAGG	0.438																																																	0								ENSG00000138829						91	101	98					5																	127627260		2203	4300	6503	FBN2	SO:0001583	missense	0			-	HGNC	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.6253C>T	5.37:g.127627260G>A	ENSP00000424571:p.Pro2085Ser	Somatic	0	45	0		0.41568620468393	6	40	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B4DU01|Q59ES6	Missense_Mutation	SNP							pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P2085S	ENST00000508053.1	37	c.6253	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248488	0.39797	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91686	-2.89;-2.89	5.35	4.42	0.53409	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.093773	0.46758	D	0.000270	D	0.87014	0.6072	L	0.28504	0.86	0.32896	D	0.512551	B	0.23735	0.09	B	0.28385	0.089	D	0.85494	0.1187	10	0.32370	T	0.25	.	13.8806	0.63680	0.0:0.0:0.7934:0.2066	.	2085	P35556	FBN2_HUMAN	S	2085	ENSP00000262464:P2085S;ENSP00000424571:P2085S	ENSP00000262464:P2085S	P	-	1	0	FBN2	127655159	0.930000	0.31532	1.000000	0.80357	0.914000	0.54420	1.532000	0.36029	2.941000	0.99782	0.655000	0.94253	CCT	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	G	NM_001999	-		127627260	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	SNP	0.964	A	A	127627260	G	A	127627260	3	1	203	1	0	0	0	0	1	0	0	0	5705	1232	43	2	2553	2	FBN2	5	127627260	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14857623	127627260	53288000	150	16180											
CTNNA1	1495	genome.wustl.edu	37	chr5	138268381	138268381	+	Missense_Mutation	SNP	G	G	A													ccgaggtgcagaatctcggcGgggagcttgttgtctctggg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:138268381G>A	ENST00000302763.7	+	17	2503	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	CTNNA1_ENST00000355078.5_Missense_Mutation_p.G702R|CTNNA1_ENST00000540387.1_Missense_Mutation_p.G435R|CTNNA1_ENST00000518825.1_Missense_Mutation_p.G805R	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	805					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.G805R(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATCTCGGCGGGGAGCTTGT	0.557																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000044115						55	54	54					5																	138268381		2203	4300	6503	CTNNA1	SO:0001583	missense	0			-	HGNC	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2413G>A	5.37:g.138268381G>A	ENSP00000304669:p.Gly805Arg	Somatic	0	51	0		0.41568620468393	377	15.06	67	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	27.78	Q12795|Q8N1C0	Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.G805R	ENST00000302763.7	37	c.2413	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.108831	0.94292	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.65	5.65	0.86999	.	0.116551	0.64402	D	0.000012	T	0.66228	0.2768	M	0.74647	2.275	0.80722	D	1	D;D;P	0.76494	0.999;0.994;0.944	D;P;P	0.68483	0.958;0.903;0.745	T	0.67078	-0.5761	10	0.72032	D	0.01	-17.5493	19.5069	0.95121	0.0:0.0:1.0:0.0	.	805;682;805	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	R	702;805;805;790;805;435	ENSP00000347190:G702R;ENSP00000304669:G805R;ENSP00000427821:G805R;ENSP00000438476:G435R	ENSP00000304669:G805R	G	+	1	0	CTNNA1	138296280	1.000000	0.71417	0.827000	0.32855	0.766000	0.43426	9.574000	0.98184	2.941000	0.99782	0.655000	0.94253	GGG	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.557	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	protein_coding	OTTHUMT00000373868.1	G	NM_001903	-		138268381	1	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138268381	G	A	138268381	3	1	203	1	0	0	0	0	1	0	0	0	4014	1116	39	1	2475	1	CTNNA1	5	138268381	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	10641121	138268381	42646879	151	16181	419	2									
CTNNA1	1495	genome.wustl.edu	37	chr5	138268382	138268382	+	Missense_Mutation	SNP	G	G	A													cgaggtgcagaatctcggcgGggagcttgttgtctctgggg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:138268382G>A	ENST00000302763.7	+	17	2504	c.2414G>A	c.(2413-2415)gGg>gAg	p.G805E	CTNNA1_ENST00000355078.5_Missense_Mutation_p.G702E|CTNNA1_ENST00000540387.1_Missense_Mutation_p.G435E|CTNNA1_ENST00000518825.1_Missense_Mutation_p.G805E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	805					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATCTCGGCGGGGAGCTTGTT	0.557																																																	0								ENSG00000044115						55	54	55					5																	138268382		2203	4300	6503	CTNNA1	SO:0001583	missense	0			-	HGNC	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2414G>A	5.37:g.138268382G>A	ENSP00000304669:p.Gly805Glu	Somatic	0	51	0		0.41568620468393	405	16.12	78	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	Q12795|Q8N1C0	Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.G805E	ENST00000302763.7	37	c.2414	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881585	0.91740	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.65	5.65	0.86999	.	0.116551	0.64402	D	0.000012	T	0.62986	0.2473	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.989	D;D;D	0.80764	0.994;0.983;0.964	T	0.63157	-0.6700	10	0.66056	D	0.02	-17.5493	19.5069	0.95121	0.0:0.0:1.0:0.0	.	805;682;805	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	E	702;805;805;790;805;435	ENSP00000347190:G702E;ENSP00000304669:G805E;ENSP00000427821:G805E;ENSP00000438476:G435E	ENSP00000304669:G805E	G	+	2	0	CTNNA1	138296281	1.000000	0.71417	0.842000	0.33263	0.753000	0.42808	9.574000	0.98184	2.941000	0.99782	0.655000	0.94253	GGG	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.557	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	protein_coding	OTTHUMT00000373868.1	G	NM_001903	-		138268382	1	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138268382	G	A	138268382	3	1	203	1	0	0	0	0	1	0	0	0	4014	1232	43	2	2476	2	CTNNA1	5	138268382	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	138268382	42646878	152	16182	419	2									
PCDHA9	9752	genome.wustl.edu	37	chr5	140230348	140230348	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactcgcagcagaggaggcaGagggtgtgctctggcgaggg	19	8	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:140230348G>A	ENST00000532602.1	+	1	3301	c.2268G>A	c.(2266-2268)caG>caA	p.Q756Q	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.Q756Q|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	756	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGCAGAGGGTGTGCT	0.647																																					Melanoma(55;1800 1972 14909)												0								ENSG00000204961						87	84	85					5																	140230348		2197	4270	6467	PCDHA9	SO:0001819	synonymous_variant	0			-	HGNC	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2268G>A	5.37:g.140230348G>A		Somatic	0	64	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	O15053|Q2M3S5	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q756	ENST00000532602.1	37	c.2268	CCDS54920.1	5																																																																																			-	NULL		0.647	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	protein_coding	OTTHUMT00000372896.2	G	NM_031857	-		140230348	1	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	SNP	0.945	A	A	140230348	G	A	140230348	2	1	203	1	0	0	0	0	0	0	0	1	11533	933	33	2		2	PCDHA9	5	140230348	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1961966	140230348	40684912	153	16183											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750935	140750935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggaagcaaaggatggtgGacatcacactgcatattgta	13	6	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:140750935G>A	ENST00000576222.1	+	1	1105	c.974G>A	c.(973-975)gGa>gAa	p.G325E	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	325	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGATGGTGGACATCACACT	0.428																																																	0								ENSG00000262209						98	100	99					5																	140750935		1966	4148	6114	PCDHGB3	SO:0001583	missense	0			-	HGNC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.974G>A	5.37:g.140750935G>A	ENSP00000461862:p.Gly325Glu	Somatic	0	43	0		0.41568620468393	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.38	A7E229|Q9Y5C7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G325E	ENST00000576222.1	37	c.974	CCDS58980.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	protein_coding	OTTHUMT00000437094.1	G	NM_018924	-		140750935	1	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140750935	G	A	140750935	3	1	203	1	0	0	0	0	1	0	0	0	11566	1174	41	2	976	2	PCDHGB3	5	140750935	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	520587	140750935	40164325	154	16184											
PCDHGC3	5098	genome.wustl.edu	37	chr5	140855792	140855792	+	Missense_Mutation	SNP	A	A	T													ccacggtcattcactatgagAtcccggaggaaagagagaag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:140855792A>T	ENST00000308177.3	+	1	213	c.109A>T	c.(109-111)Atc>Ttc	p.I37F	PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	37	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTATGAGATCCCGGAGGA	0.582																																																	0								ENSG00000240184						143	150	147					5																	140855792		2203	4300	6503	PCDHGC3	SO:0001583	missense	0			-	HGNC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.109A>T	5.37:g.140855792A>T	ENSP00000312070:p.Ile37Phe	Somatic	0	29	0		0.41568620468393	7	56.25	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I37F	ENST00000308177.3	37	c.109	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155305	0.57259	.	.	ENSG00000240184	ENST00000308177	T	0.36157	1.27	5.65	4.5	0.54988	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.49064	0.1535	M	0.75264	2.295	0.33940	D	0.643177	D;P	0.54601	0.967;0.928	P;P	0.54759	0.76;0.696	T	0.63479	-0.6628	9	0.48119	T	0.1	.	8.1684	0.31241	0.7962:0.1347:0.0691:0.0	.	37;37	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	F	37	ENSP00000312070:I37F	ENSP00000312070:I37F	I	+	1	0	PCDHGC3	140835976	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	2.759000	0.47573	1.161000	0.42604	-0.250000	0.11733	ATC	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	protein_coding	OTTHUMT00000251808.2	A	NM_002588	-		140855792	1	no_errors	ENST00000308177	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140855792	A	T	140855792	3	4	203	1	0	0	0	0	1	0	0	0	11571	333	12	5	111	5	PCDHGC3	5	140855792	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	104857	140855792	40059468	155	16185	420	2									
PCDHGC3	5098	genome.wustl.edu	37	chr5	140855793	140855793	+	Missense_Mutation	SNP	T	T	C													cacggtcattcactatgagaTcccggaggaaagagagaagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:140855793T>C	ENST00000308177.3	+	1	214	c.110T>C	c.(109-111)aTc>aCc	p.I37T	PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	37	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTATGAGATCCCGGAGGAA	0.582																																																	0								ENSG00000240184						143	150	148					5																	140855793		2203	4300	6503	PCDHGC3	SO:0001583	missense	0			-	HGNC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.110T>C	5.37:g.140855793T>C	ENSP00000312070:p.Ile37Thr	Somatic	0	28	0		0.41568620468393	7	56.25	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I37T	ENST00000308177.3	37	c.110	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738152	0.69304	.	.	ENSG00000240184	ENST00000308177	T	0.35973	1.28	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.57548	0.2061	M	0.86864	2.845	0.34702	D	0.72687	D;P	0.54601	0.967;0.928	P;B	0.52159	0.691;0.44	T	0.75563	-0.3274	9	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	37;37	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	T	37	ENSP00000312070:I37T	ENSP00000312070:I37T	I	+	2	0	PCDHGC3	140835977	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.941000	0.70195	2.371000	0.80710	0.533000	0.62120	ATC	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	protein_coding	OTTHUMT00000251808.2	T	NM_002588	-		140855793	1	no_errors	ENST00000308177	ensembl	human	known	74_37	missense	SNP	1.000	C	C	140855793	T	C	140855793	3	2	203	1	0	0	0	0	1	0	0	0	11571	1435	50	5	112	5	PCDHGC3	5	140855793	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	1	140855793	40059467	156	16186	420	2									
ANXA6	309	genome.wustl.edu	37	chr5	150509073	150509073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcggatcagggtgttGtcccgagtccccaggccctg	14	12	1	1	rs557062451		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:150509073G>T	ENST00000354546.5	-	12	1040	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ANXA6_ENST00000523714.1_Missense_Mutation_p.D239E|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.D271E|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	271					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGGGTGTTGTCCCGAGTCC	0.527													G|||	1	0.000199681	0	0	5008	,	,		17882	0		0	False		,,,				2504	0.001																0								ENSG00000197043						47	48	47					5																	150509073		1986	4157	6143	ANXA6	SO:0001583	missense	0			-	HGNC	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.813C>A	5.37:g.150509073G>T	ENSP00000346550:p.Asp271Glu	Somatic	0	56	0		0.41568620468393	849	0.12	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV	p.D271E	ENST00000354546.5	37	c.813	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	G	17.40	3.378912	0.61735	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.02158	4.42;4.42;4.42	5.05	5.05	0.67936	Annexin repeat, conserved site (1);	0.044136	0.85682	N	0.000000	T	0.03608	0.0103	L	0.43701	1.375	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.49072	-0.8977	10	0.46703	T	0.11	.	17.1866	0.86868	0.0:0.0:1.0:0.0	.	271;271	A6NN80;P08133	.;ANXA6_HUMAN	E	271;239;271;145	ENSP00000346550:D271E;ENSP00000430517:D239E;ENSP00000348889:D271E	ENSP00000346550:D271E	D	-	3	2	ANXA6	150489266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.350000	0.52224	2.358000	0.79984	0.511000	0.50034	GAC	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin		0.527	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	protein_coding	OTTHUMT00000377668.2	G	NM_001155	-		150509073	-1	no_errors	ENST00000354546	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150509073	G	T	150509073	3	4	203	1	0	0	0	0	1	0	0	0	722	1368	48	3	1268	3	ANXA6	5	150509073	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	9653280	150509073	30406187	157	16187											
FAT2	2196	genome.wustl.edu	37	chr5	150887105	150887105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taactcctgctgcccccagtCccccctttggatctcgggag	9	17	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:150887105C>T	ENST00000261800.5	-	22	12139	c.12127G>A	c.(12127-12129)Gac>Aac	p.D4043N	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4043					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)			TGCCCCCAGTCCCCCCTTTGG	0.562																																																	0								ENSG00000086570						53	51	51					5																	150887105		2203	4300	6503	FAT2	SO:0001583	missense	0			-	HGNC	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.12127G>A	5.37:g.150887105C>T	ENSP00000261800:p.Asp4043Asn	Somatic	0	80	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	O75091|Q9NSR7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D4043N	ENST00000261800.5	37	c.12127	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.40|10.40	1.340452|1.340452	0.24339|0.24339	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|T	0.69306|0.71934	-0.39|-0.61	5.46|5.46	4.59|4.59	0.56863|0.56863	Concanavalin A-like lectin/glucanase, subgroup (1);|.	0.425701|.	0.22025|.	N|.	0.065670|.	T|T	0.62060|0.62060	0.2397|0.2397	N|N	0.24115|0.24115	0.695|0.695	0.30538|0.30538	N|N	0.766764|0.766764	B;P|.	0.44195|.	0.255;0.828|.	B;B|.	0.29663|.	0.053;0.105|.	T|T	0.62431|0.62431	-0.6856|-0.6856	10|7	0.06625|0.37606	T|T	0.88|0.19	.|.	11.2964|11.2964	0.49280|0.49280	0.0:0.9166:0.0:0.0834|0.0:0.9166:0.0:0.0834	.|.	4043;1148|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	N|E	4043|815	ENSP00000261800:D4043N|ENSP00000429678:G815E	ENSP00000261800:D4043N|ENSP00000429678:G815E	D|G	-|-	1|2	0|0	FAT2|FAT2	150867298|150867298	0.923000|0.923000	0.31300|0.31300	0.994000|0.994000	0.49952|0.49952	0.547000|0.547000	0.35210|0.35210	1.823000|1.823000	0.39062|0.39062	1.295000|1.295000	0.44724|0.44724	0.655000|0.655000	0.94253|0.94253	GAC|GGA	-	NULL		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	C	NM_001447	-		150887105	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	SNP	0.999	T	T	150887105	C	T	150887105	3	4	203	1	0	0	0	0	1	0	0	0	5692	855	30	2	930	2	FAT2	5	150887105	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	378032	150887105	30028155	158	16188											
FAT2	2196	genome.wustl.edu	37	chr5	150931138	150931138	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgctgcctgtggtcttctCaatgtcaaagtccatgtcct	9	11	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:150931138C>T	ENST00000261800.5	-	6	4198	c.4186G>A	c.(4186-4188)Gag>Aag	p.E1396K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1396	Cadherin 12. {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)			GTGGTCTTCTCAATGTCAAAG	0.498																																																	0								ENSG00000086570						189	160	170					5																	150931138		2203	4300	6503	FAT2	SO:0001583	missense	0			-	HGNC	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.4186G>A	5.37:g.150931138C>T	ENSP00000261800:p.Glu1396Lys	Somatic	0	53	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	O75091|Q9NSR7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E1396K	ENST00000261800.5	37	c.4186	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044697	0.93685	.	.	ENSG00000086570	ENST00000261800	T	0.38560	1.13	5.43	5.43	0.79202	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	T	0.64283	0.2584	M	0.77712	2.385	0.49915	D	0.999836	D	0.62365	0.991	P	0.60012	0.867	T	0.66264	-0.5967	10	0.51188	T	0.08	.	19.2351	0.93855	0.0:1.0:0.0:0.0	.	1396	Q9NYQ8	FAT2_HUMAN	K	1396	ENSP00000261800:E1396K	ENSP00000261800:E1396K	E	-	1	0	FAT2	150911331	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.562000	0.60816	2.538000	0.85594	0.561000	0.74099	GAG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	C	NM_001447	-		150931138	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150931138	C	T	150931138	3	4	203	1	0	0	0	0	1	0	0	0	5692	835	29	2	8935	2	FAT2	5	150931138	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	44033	150931138	29984122	159	16189											
DOCK2	1794	genome.wustl.edu	37	chr5	169494579	169494579	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccaatgagaagatcctgatGatgataaaccagtaccagag	10	8	0	6	rs148502872	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr5:169494579G>A	ENST00000256935.8	+	45	4613	c.4533G>A	c.(4531-4533)atG>atA	p.M1511I	DOCK2_ENST00000520908.1_Missense_Mutation_p.M1003I|DOCK2_ENST00000540750.1_Missense_Mutation_p.M572I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1511	DHR-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)			AGATCCTGATGATGATAAACC	0.502																																																	0								ENSG00000134516						189	170	176					5																	169494579		2203	4300	6503	DOCK2	SO:0001583	missense	0			-	HGNC	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.4533G>A	5.37:g.169494579G>A	ENSP00000256935:p.Met1511Ile	Somatic	0	105	0		0.41568620468393	30	3.23	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	Q2M3I0|Q96AK7	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.M1511I	ENST00000256935.8	37	c.4533	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630704	0.46944	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17054	2.3;2.3;2.3	4.71	4.71	0.59529	.	0.097056	0.64402	D	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.36266	D	0.854833	B;B;B	0.31485	0.325;0.073;0.181	B;B;B	0.34385	0.073;0.181;0.024	T	0.25641	-1.0126	10	0.37606	T	0.19	.	14.5027	0.67732	0.0:0.1476:0.8524:0.0	.	1003;67;1511	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	I	1511;1003;572	ENSP00000256935:M1511I;ENSP00000429283:M1003I;ENSP00000438827:M572I	ENSP00000256935:M1511I	M	+	3	0	DOCK2	169427157	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.486000	0.53215	2.322000	0.78497	0.467000	0.42956	ATG	-	pfam_DOCK_C		0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	G	NM_004946	-		169494579	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169494579	G	A	169494579	3	1	203	1	0	0	0	0	1	0	0	0	4689	1290	45	2	4711	2	DOCK2	5	169494579	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	18563441	169494579	11420681	160	16190											
RIPK1	8737	genome.wustl.edu	37	chr6	3089836	3089836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaagaaaaatttaggcCtttttatttaagtcaattag	6	4	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:3089836C>T	ENST00000259808.4	+	7	1158	c.860C>T	c.(859-861)cCt>cTt	p.P287L	RNA5SP201_ENST00000410316.1_RNA|RIPK1_ENST00000541791.1_Missense_Mutation_p.P241L|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.P287L			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAATTTAGGCCTTTTTATTTA	0.254																																																	0								ENSG00000137275						47	55	53					6																	3089836		2189	4283	6472	RIPK1	SO:0001583	missense	0			-	HGNC	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.860C>T	6.37:g.3089836C>T	ENSP00000259808:p.Pro287Leu	Somatic	0	152	0		0.41568620468393	9	43.75	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	79	21.00	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P287L	ENST00000259808.4	37	c.860	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768800	0.90020	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.79554	-1.28;-0.67;-1.28	6.17	6.17	0.99709	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044218	0.85682	D	0.000000	D	0.86293	0.5898	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86427	0.1758	10	0.87932	D	0	-11.5138	17.7962	0.88572	0.0:1.0:0.0:0.0	.	241;287	Q13546-2;Q13546	.;RIPK1_HUMAN	L	287;241;287	ENSP00000259808:P287L;ENSP00000442294:P241L;ENSP00000369773:P287L	ENSP00000259808:P287L	P	+	2	0	RIPK1	3034835	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.921000	0.48852	2.941000	0.99782	0.655000	0.94253	CCT	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.254	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	protein_coding	OTTHUMT00000039659.2	C	NM_003804	-		3089836	1	no_errors	ENST00000259808	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3089836	C	T	3089836	3	4	203	1	0	0	0	0	1	0	0	0	13388	681	24	2	882	2	RIPK1	6	3089836	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		3089836	168025231	161	16191											
HIVEP1	3096	genome.wustl.edu	37	chr6	12161889	12161889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggatgtcaggatcacCgattgcttttctggggtaca	13	8	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:12161889C>T	ENST00000379388.2	+	8	7037	c.6705C>T	c.(6703-6705)acC>acT	p.T2235T	HIVEP1_ENST00000541134.1_Silent_p.T100T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2235					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)				TCAGGATCACCGATTGCTTTT	0.552																																																	0								ENSG00000095951						93	100	98					6																	12161889		2129	4250	6379	HIVEP1	SO:0001819	synonymous_variant	0			-	HGNC	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.6705C>T	6.37:g.12161889C>T		Somatic	0	28	0		0.41568620468393	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T2235	ENST00000379388.2	37	c.6705	CCDS43426.1	6																																																																																			-	NULL		0.552	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	protein_coding	OTTHUMT00000039870.2	C	NM_002114	-		12161889	1	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	SNP	0.000	T	T	12161889	C	T	12161889	2	4	203	1	0	0	0	0	0	0	0	1	7188	639	23	1		1	HIVEP1	6	12161889	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	9072053	12161889	158953178	162	16192											
KIF13A	63971	genome.wustl.edu	37	chr6	17849721	17849721	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgactttctccccggaattCtagttataggaaacgagaga	9	9	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:17849721C>A	ENST00000259711.6	-	9	823		c.e9-1		KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378826.2_Splice_Site|KIF13A_ENST00000378843.2_Splice_Site|KIF13A_ENST00000378814.5_Splice_Site	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCCCGGAATTCTAGTTATAGG	0.423																																																	0								ENSG00000137177						77	66	69					6																	17849721		1822	4094	5916	KIF13A	SO:0001630	splice_region_variant	0			-	HGNC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.718-1G>T	6.37:g.17849721C>A		Somatic	0	48	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Splice_Site	SNP							-	e9-1	ENST00000259711.6	37	c.718-1	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445840	0.84101	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3174	0.94220	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13A	17957700	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	7.768000	0.85345	2.569000	0.86673	0.650000	0.86243	.	-	-		0.423	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	protein_coding	OTTHUMT00000039954.4	C		-	Intron	17849721	-1	no_errors	ENST00000259711	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	17849721	C	A	17849721	5	1	203	1	0	0	0	0	0	0	1	0	8276	927	32	3	4849	3	KIF13A	6	17849721	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	5687832	17849721	153265346	163	16193											
OR11A1	26531	genome.wustl.edu	37	chr6	29395205	29395205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcggaggtgtagagaatatCcaggaaggacagattcgcca	14	7	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:29395205C>T	ENST00000377149.1	-	5	686	c.214G>A	c.(214-216)Gat>Aat	p.D72N	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.D72N|OR11A1_ENST00000377148.1_Missense_Mutation_p.D72N			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TAGAGAATATCCAGGAAGGAC	0.458																																																	0								ENSG00000204694						79	73	75					6																	29395205		1511	2709	4220	OR11A1	SO:0001583	missense	0			-	HGNC		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.214G>A	6.37:g.29395205C>T	ENSP00000366354:p.Asp72Asn	Somatic	0	38	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.D72N	ENST00000377149.1	37	c.214	CCDS34363.1	6	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586864	0.66105	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.01165	5.24;5.24;5.24	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.248228	0.20658	U	0.088078	T	0.02047	0.0064	M	0.89214	3.015	0.32989	D	0.524751	P	0.41710	0.76	P	0.45037	0.467	T	0.03662	-1.1015	10	0.87932	D	0	-12.1833	14.4235	0.67200	0.0:1.0:0.0:0.0	.	72	Q9GZK7	O11A1_HUMAN	N	72	ENSP00000366353:D72N;ENSP00000366354:D72N;ENSP00000366352:D72N	ENSP00000366352:D72N	D	-	1	0	OR11A1	29503184	0.890000	0.30428	0.991000	0.47740	0.419000	0.31324	3.223000	0.51231	1.931000	0.55961	0.411000	0.27672	GAT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	protein_coding	OTTHUMT00000193778.1	C		-		29395205	-1	no_errors	ENST00000377147	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29395205	C	T	29395205	3	4	203	1	0	0	0	0	1	0	0	0	10926	855	30	2	737	2	OR11A1	6	29395205	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	11545484	29395205	141719862	164	16194											
HLA-DOA	3111	genome.wustl.edu	37	chr6	32975875	32975875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccggccagcccgccctgCgggtcaaagcgggcaaagtc	14	15	1	0	rs550573091		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:32975875C>T	ENST00000229829.5	-	2	321	c.246G>A	c.(244-246)ccG>ccA	p.P82P	HLA-DOA_ENST00000450833.2_Silent_p.P52P|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	82	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCGCCCTGCGGGTCAAAGC	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		16508	0		0	False		,,,				2504	0																0								ENSG00000204252						50	50	50					6																	32975875		1511	2709	4220	HLA-DOA	SO:0001819	synonymous_variant	0			-	HGNC	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.246G>A	6.37:g.32975875C>T		Somatic	0	103	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP							pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P82	ENST00000229829.5	37	c.246	CCDS4763.1	6																																																																																			-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.607	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DOA	protein_coding	OTTHUMT00000076426.2	C	NM_002119	-		32975875	-1	no_errors	ENST00000229829	ensembl	human	known	74_37	silent	SNP	0.123	T	T	32975875	C	T	32975875	2	4	203	1	0	0	0	0	0	0	0	1	7202	755	27	1		1	HLA-DOA	6	32975875	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3580670	32975875	138139192	165	16195											
ITPR3	3710	genome.wustl.edu	37	chr6	33630708	33630708	+	Silent	SNP	C	C	T													gtggtccaccacgacccctgCcgtggaggagctgggcactg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:33630708C>T	ENST00000374316.5	+	10	1939	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ITPR3_ENST00000605930.1_Silent_p.C293C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	293					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)	ACGACCCCTGCCGTGGAGGAG	0.627																																																	0								ENSG00000096433						61	51	55					6																	33630708		2203	4300	6503	ITPR3	SO:0001819	synonymous_variant	0			-	HGNC	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.879C>T	6.37:g.33630708C>T		Somatic	0	44	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	Q14649|Q5TAQ2	Silent	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.C293	ENST00000374316.5	37	c.879	CCDS4783.1	6																																																																																			-	pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	protein_coding	OTTHUMT00000040204.2	C	NM_002224	-		33630708	1	no_errors	ENST00000374316	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33630708	C	T	33630708	2	4	203	1	0	0	0	0	0	0	0	1	7924	747	26	2		2	ITPR3	6	33630708	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	654833	33630708	137484359	166	16196	421	2									
ITPR3	3710	genome.wustl.edu	37	chr6	33630709	33630709	+	Missense_Mutation	SNP	C	C	T													tggtccaccacgacccctgcCgtggaggagctgggcactgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:33630709C>T	ENST00000374316.5	+	10	1940	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R294C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	294					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.R294C(1)		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)	CGACCCCTGCCGTGGAGGAGC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000096433						61	51	55					6																	33630709		2203	4300	6503	ITPR3	SO:0001583	missense	0			-	HGNC	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.880C>T	6.37:g.33630709C>T	ENSP00000363435:p.Arg294Cys	Somatic	0	45	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	37.50	Q14649|Q5TAQ2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R294C	ENST00000374316.5	37	c.880	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	c	23.1	4.378282	0.82682	.	.	ENSG00000096433	ENST00000374316	D	0.88277	-2.36	5.34	5.34	0.76211	MIR (2);	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95124	0.8249	10	0.87932	D	0	-13.3863	13.9414	0.64057	0.1519:0.8481:0.0:0.0	.	294	Q14573	ITPR3_HUMAN	C	294	ENSP00000363435:R294C	ENSP00000363435:R294C	R	+	1	0	ITPR3	33738687	1.000000	0.71417	0.996000	0.52242	0.767000	0.43475	2.408000	0.44574	2.494000	0.84150	0.306000	0.20318	CGT	-	pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	protein_coding	OTTHUMT00000040204.2	C	NM_002224	-		33630709	1	no_errors	ENST00000374316	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33630709	C	T	33630709	3	4	203	1	0	0	0	0	1	0	0	0	7924	652	23	1	914	1	ITPR3	6	33630709	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	33630709	137484358	167	16197	421	2									
TDRD6	221400	genome.wustl.edu	37	chr6	46659235	46659235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactattttagataagtcaTtgaaggctttagttgtagca	9	4	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:46659235T>G	ENST00000316081.6	+	1	3370	c.3370T>G	c.(3370-3372)Ttg>Gtg	p.L1124V	TDRD6_ENST00000544460.1_Missense_Mutation_p.L1124V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1124					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATAAGTCATTGAAGGCTTT	0.358																																																	0								ENSG00000180113						118	120	119					6																	46659235		2203	4300	6503	TDRD6	SO:0001583	missense	0			-	HGNC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3370T>G	6.37:g.46659235T>G	ENSP00000346065:p.Leu1124Val	Somatic	0	69	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP							pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L1124V	ENST00000316081.6	37	c.3370	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	T	9.712	1.157357	0.21454	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.19806	2.12;2.13	5.73	-8.21	0.01041	.	0.129757	0.52532	D	0.000069	T	0.11580	0.0282	M	0.68317	2.08	0.21652	N	0.999607	P;P	0.41673	0.759;0.646	P;B	0.49829	0.623;0.419	T	0.06607	-1.0817	10	0.44086	T	0.13	-2.2102	9.8493	0.41046	0.1455:0.4356:0.0:0.4189	.	1124;1124	F5H5M3;O60522	.;TDRD6_HUMAN	V	1124	ENSP00000443299:L1124V;ENSP00000346065:L1124V	ENSP00000346065:L1124V	L	+	1	2	TDRD6	46767194	0.001000	0.12720	0.301000	0.25044	0.244000	0.25665	-0.130000	0.10498	-2.050000	0.00905	-2.200000	0.00306	TTG	-	NULL		0.358	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	T	XM_166443	-		46659235	1	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	SNP	0.000	G	G	46659235	T	G	46659235	3	3	203	1	0	0	0	0	1	0	0	0	15741	1490	52	5	3372	5	TDRD6	6	46659235	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	13028526	46659235	124455832	168	16198											
GPR116	221395	genome.wustl.edu	37	chr6	46830777	46830777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccggcatagcttctggaTgactttccccggctctccga	10	14	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:46830777T>C	ENST00000283296.7	-	15	2335	c.2047A>G	c.(2047-2049)Atc>Gtc	p.I683V	GPR116_ENST00000265417.7_Missense_Mutation_p.I683V|GPR116_ENST00000545669.1_Missense_Mutation_p.I112V|GPR116_ENST00000456426.2_Missense_Mutation_p.I541V|GPR116_ENST00000362015.4_Missense_Mutation_p.I683V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	683					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCTTCTGGATGACTTTCCCC	0.507																																					NSCLC(59;410 1274 8751 36715 50546)												0								ENSG00000069122						92	87	89					6																	46830777		2203	4300	6503	GPR116	SO:0001583	missense	0			-	HGNC	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2047A>G	6.37:g.46830777T>C	ENSP00000283296:p.Ile683Val	Somatic	0	46	0		0.41568620468393	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.I683V	ENST00000283296.7	37	c.2047	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559197	0.27827	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.25912	1.81;2.19;1.83;1.81;1.77	5.33	2.92	0.33932	.	0.417811	0.22259	N	0.062430	T	0.07638	0.0192	M	0.72118	2.19	0.23524	N	0.997495	P;B;P;B;P	0.36027	0.459;0.063;0.533;0.064;0.533	B;B;B;B;B	0.30943	0.122;0.032;0.076;0.07;0.076	T	0.31530	-0.9940	10	0.17369	T	0.5	-16.4765	4.0825	0.09932	0.1506:0.1661:0.0:0.6833	.	112;238;683;541;683	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	V	683;683;683;541;54;683;112	ENSP00000283296:I683V;ENSP00000354563:I683V;ENSP00000412866:I541V;ENSP00000265417:I683V;ENSP00000441581:I112V	ENSP00000265417:I683V	I	-	1	0	GPR116	46938736	0.434000	0.25570	0.998000	0.56505	0.587000	0.36485	1.070000	0.30653	0.422000	0.26005	-0.290000	0.09829	ATC	-	prints_GPCR_2_Ig-hepta_rcpt		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	T	NM_015234	-		46830777	-1	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	SNP	0.987	C	C	46830777	T	C	46830777	3	2	203	1	0	0	0	0	1	0	0	0	6635	1464	51	5	2021	5	GPR116	6	46830777	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	171542	46830777	124284290	169	16199											
COL9A1	1297	genome.wustl.edu	37	chr6	70950397	70950397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaaaaatcttacaagttCccccctttctcctgcttcac	2	14	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:70950397C>T	ENST00000357250.6	-	32	2232	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E449K|COL9A1_ENST00000320755.7_Missense_Mutation_p.E449K	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	692	Collagen-like 7.|Triple-helical region (COL2).				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)			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						CTTACAAGTTCCCCCCTTTCT	0.323																																																	0								ENSG00000112280						76	94	88					6																	70950397		2203	4300	6503	COL9A1	SO:0001583	missense	0			-	HGNC		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.2074G>A	6.37:g.70950397C>T	ENSP00000349790:p.Glu692Lys	Somatic	0	54	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E692K	ENST00000357250.6	37	c.2074	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721241	0.68959	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93659	-3.26;-3.26;-3.26	5.61	5.61	0.85477	.	0.281587	0.44097	D	0.000483	D	0.92961	0.7760	L	0.41124	1.26	0.54753	D	0.999989	P;P;B	0.51653	0.947;0.731;0.379	P;B;B	0.56563	0.801;0.397;0.11	D	0.91959	0.5577	10	0.39692	T	0.17	.	19.6282	0.95689	0.0:1.0:0.0:0.0	.	692;449;241	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	K	692;449;449	ENSP00000349790:E692K;ENSP00000315252:E449K;ENSP00000359530:E449K	ENSP00000315252:E449K	E	-	1	0	COL9A1	71007118	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	6.170000	0.71920	2.633000	0.89246	0.650000	0.86243	GAA	-	pfam_Collagen		0.323	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	protein_coding	OTTHUMT00000041131.2	C		-		70950397	-1	no_errors	ENST00000357250	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70950397	C	T	70950397	3	4	203	1	0	0	0	0	1	0	0	0	3709	864	30	2	719	2	COL9A1	6	70950397	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	24119620	70950397	100164670	170	16200											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90576756	90576756	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatataaagaactctcaatcCgaagagcgctccttggaagt	8	9	1	2	rs376295745		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:90576756C>T	ENST00000551025.1	+	0	5184									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACTCTCAATCCGAAGAGCGCT	0.373													C|||	1	0.000199681	0	0	5008	,	,		18055	0		0	False		,,,				2504	0.001				Colon(187;1656 2025 17045 31481 39901)												0								ENSG00000118412	C	,,	1,3677		0,1,1838	37	38	38		3747,3747,3747	-1.9	0	6		38	2,8174		0,2,4086	no	coding-synonymous,coding-synonymous,coding-synonymous	CASP8AP2	NM_001137667.1,NM_001137668.1,NM_012115.3	,,	0,3,5924	TT,TC,CC		0.0245,0.0272,0.0253	,,	1249/1967,1249/1967,1249/1967	90576756	3,11851	1839	4088	5927	CASP8AP2			0			-	HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576756C>T		Somatic	0	25	0		0.41568620468393	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44		RNA	SNP							-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.373	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		C	NM_001137667	-		90576756	1	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	SNP	0.000	T	T	90576756	C	T	90576756	1	4	203	0	1	0	0	0	0	0	0	0	2680	639	23	1		1	CASP8AP2	6	90576756	RNA	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	19626359	90576756	80538311	171	16201											
GPR63	81491	genome.wustl.edu	37	chr6	97247514	97247514	+	Missense_Mutation	SNP	G	G	C													aggatgctggaatggtggagGgagtgtaatattcatgtagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:97247514G>C	ENST00000229955.3	-	2	439	c.94C>G	c.(94-96)Cct>Gct	p.P32A	GPR63_ENST00000417980.1_Missense_Mutation_p.P32A	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P32T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AATGGTGGAGGGAGTGTAATA	0.458																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000112218						127	115	119					6																	97247514		2203	4300	6503	GPR63	SO:0001583	missense	0			-	HGNC	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.94C>G	6.37:g.97247514G>C	ENSP00000229955:p.Pro32Ala	Somatic	0	79	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	Q9UJH3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P32A	ENST00000229955.3	37	c.94	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027870	0.19512	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.59083	0.29;0.29;0.29	5.15	5.15	0.70609	.	0.164450	0.28841	N	0.013965	T	0.29288	0.0729	N	0.14661	0.345	0.41960	D	0.990708	B	0.06786	0.001	B	0.04013	0.001	T	0.18681	-1.0329	10	0.66056	D	0.02	-5.1132	16.0686	0.80907	0.0:0.134:0.866:0.0	.	32	Q9BZJ6	GPR63_HUMAN	A	56;32;32;32	ENSP00000393170:P32A;ENSP00000229955:P32A;ENSP00000358273:P32A	ENSP00000229955:P32A	P	-	1	0	GPR63	97354235	0.998000	0.40836	0.116000	0.21606	0.642000	0.38348	2.747000	0.47475	2.569000	0.86673	0.650000	0.86243	CCT	-	NULL		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	protein_coding	OTTHUMT00000041566.2	G		-		97247514	-1	no_errors	ENST00000229955	ensembl	human	known	74_37	missense	SNP	0.895	C	C	97247514	G	C	97247514	3	2	203	1	0	0	0	0	1	0	0	0	6706	1232	43	4	1169	4	GPR63	6	97247514	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	6670758	97247514	73867553	172	16202	422	2									
GPR63	81491	genome.wustl.edu	37	chr6	97247515	97247515	+	Silent	SNP	G	G	A													ggatgctggaatggtggaggGagtgtaatattcatgtaggt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:97247515G>A	ENST00000229955.3	-	2	438	c.93C>T	c.(91-93)ctC>ctT	p.L31L	GPR63_ENST00000417980.1_Silent_p.L31L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ATGGTGGAGGGAGTGTAATAT	0.458																																																	0								ENSG00000112218						127	116	119					6																	97247515		2203	4300	6503	GPR63	SO:0001819	synonymous_variant	0			-	HGNC	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.93C>T	6.37:g.97247515G>A		Somatic	0	80	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	Q9UJH3	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L31	ENST00000229955.3	37	c.93	CCDS5036.1	6																																																																																			-	NULL		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	protein_coding	OTTHUMT00000041566.2	G		-		97247515	-1	no_errors	ENST00000229955	ensembl	human	known	74_37	silent	SNP	0.252	A	A	97247515	G	A	97247515	2	1	203	1	0	0	0	0	0	0	0	1	6706	1161	41	2		2	GPR63	6	97247515	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	97247515	73867552	173	16203	422	2									
AKD1	221264	genome.wustl.edu	37	chr6	109837058	109837058	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcgtttgctgaaattAcctttacagggtcccaatag	10	9	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:109837058A>C	ENST00000424296.2	-	31	4142		c.e31+1			NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						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)										TGCTGAAATTACCTTTACAGG	0.358																																																	0								ENSG00000155085						124	101	108					6																	109837058		692	1591	2283	AK9	SO:0001630	splice_region_variant	0			-	HGNC	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.4065+1T>G	6.37:g.109837058A>C		Somatic	0	116	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	SNP							-	e30+2	ENST00000424296.2	37	c.4065+2	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152565	0.78001	.	.	ENSG00000155085	ENST00000424296;ENST00000470564	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7043	0.77565	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKD1	109943751	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	8.331000	0.90022	2.127000	0.65507	0.528000	0.53228	.	-	-		0.358	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	protein_coding		A	NM_001145128	-	Intron	109837058	-1	no_errors	ENST00000424296	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	109837058	A	C	109837058	5	2	203	1	0	0	0	0	0	0	1	0	460	405	14	5	1712	5	AKD1	6	109837058	Splice_Site	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	12589543	109837058	61278009	174	16204											
MOXD1	26002	genome.wustl.edu	37	chr6	132619016	132619016	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagaccttcctttttagtCcatttaaacttattcatagc	5	9	1	1	rs140134245		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:132619016C>T	ENST00000367963.3	-	11	1705	c.1587G>A	c.(1585-1587)tgG>tgA	p.W529*	MOXD1_ENST00000336749.3_Nonsense_Mutation_p.W461*	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	529						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCTTTTTAGTCCATTTAAACT	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		15939	0		0	False		,,,				2504	0																0								ENSG00000079931						114	105	108					6																	132619016		2203	4300	6503	MOXD1	SO:0001587	stop_gained	0			GMAF=0.0005	HGNC	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1587G>A	6.37:g.132619016C>T	ENSP00000356940:p.Trp529*	Somatic	0	83	0		0.41568620468393	52	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	48	15.79	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Nonsense_Mutation	SNP							pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.W529*	ENST00000367963.3	37	c.1587	CCDS5152.2	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.475749	0.98306	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6999	18.8014	0.92018	0.0:1.0:0.0:0.0	.	.	.	.	X	529;461	.	ENSP00000336998:W461X	W	-	3	0	MOXD1	132660709	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.628000	0.67791	2.882000	0.98803	0.655000	0.94253	TGG	-	NULL		0.403	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	protein_coding	OTTHUMT00000125837.1	C	NM_015529	rs140134245		132619016	-1	no_errors	ENST00000367963	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	132619016	C	T	132619016	4	4	203	1	0	0	0	0	0	1	0	0	9722	856	30	2	262	2	MOXD1	6	132619016	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	22781958	132619016	38496051	175	16205											
HEBP2	23593	genome.wustl.edu	37	chr6	138727221	138727221	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccctctgaacagcaatttGatccacccaggcctttagag	7	13	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:138727221G>A	ENST00000607197.1	+	3	629	c.352G>A	c.(352-354)Gat>Aat	p.D118N	HEBP2_ENST00000367697.3_Intron|HEBP2_ENST00000448741.1_Intron	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	118					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		ACAGCAATTTGATCCACCCAG	0.443																																																	0								ENSG00000051620						190	184	186					6																	138727221		2203	4300	6503	HEBP2	SO:0001583	missense	0			-	HGNC	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.352G>A	6.37:g.138727221G>A	ENSP00000475750:p.Asp118Asn	Somatic	0	87	0		0.41568620468393	312	16.8	63	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.62	Q96P57	Missense_Mutation	SNP							pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom	p.D118N	ENST00000607197.1	37	c.352	CCDS5191.1	6	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394262	0.42410	.	.	ENSG00000051620	ENST00000058691	T	0.21191	2.02	5.33	5.33	0.75918	Regulatory factor, effector, bacterial (1);	0.295226	0.40908	D	0.000990	T	0.05777	0.0151	N	0.21545	0.675	0.80722	D	1	B	0.15141	0.012	B	0.16289	0.015	T	0.24119	-1.0169	9	.	.	.	.	10.0863	0.42421	0.0921:0.0:0.9079:0.0	.	118	Q9Y5Z4	HEBP2_HUMAN	N	118	ENSP00000058691:D118N	.	D	+	1	0	HEBP2	138768914	0.980000	0.34600	0.949000	0.38748	0.872000	0.50106	1.939000	0.40213	2.498000	0.84270	0.491000	0.48974	GAT	-	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom		0.443	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEBP2	protein_coding	OTTHUMT00000042426.2	G		-		138727221	1	no_errors	ENST00000607197	ensembl	human	known	74_37	missense	SNP	0.985	A	A	138727221	G	A	138727221	3	1	203	1	0	0	0	0	1	0	0	0	7039	1290	45	2	362	2	HEBP2	6	138727221	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	6108205	138727221	32387846	176	16206											
HIVEP2	3097	genome.wustl.edu	37	chr6	143094200	143094200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgagtgacttcctctcaaaGaaggaggaatagttagatta	10	5	1	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:143094200G>A	ENST00000367604.1	-	4	2315	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S559F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S559F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	559					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.S559Y(1)		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)		TCCTCTCAAAGAAGGAGGAAT	0.468																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000010818						90	89	89					6																	143094200		1902	4127	6029	HIVEP2	SO:0001583	missense	0			-	HGNC	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.1676C>T	6.37:g.143094200G>A	ENSP00000356576:p.Ser559Phe	Somatic	0	38	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S559F	ENST00000367604.1	37	c.1676	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462779	0.43736	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.11930	2.73;2.73;2.73	5.48	5.48	0.80851	.	0.374019	0.31624	N	0.007324	T	0.08935	0.0221	L	0.53249	1.67	0.31908	N	0.615116	P	0.49961	0.93	B	0.41723	0.365	T	0.03240	-1.1057	10	0.72032	D	0.01	-21.5276	14.217	0.65800	0.0:0.0:0.8507:0.1493	.	559	P31629	ZEP2_HUMAN	F	559	ENSP00000356576:S559F;ENSP00000356575:S559F;ENSP00000012134:S559F	ENSP00000012134:S559F	S	-	2	0	HIVEP2	143135893	0.981000	0.34729	1.000000	0.80357	0.996000	0.88848	3.893000	0.56243	2.566000	0.86566	0.655000	0.94253	TCT	-	NULL		0.468	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	G		-		143094200	-1	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	SNP	0.998	A	A	143094200	G	A	143094200	3	1	203	1	0	0	0	0	1	0	0	0	7189	942	33	2	5688	2	HIVEP2	6	143094200	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4366979	143094200	28020867	177	16207											
LTV1	84946	genome.wustl.edu	37	chr6	144178505	144178505	+	Missense_Mutation	SNP	C	C	T													atgattttgactttgatgatCcagataatctgcttgaggat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:144178505C>T	ENST00000367576.5	+	5	597	c.463C>T	c.(463-465)Cca>Tca	p.P155S		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	155	Asp-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CTTTGATGATCCAGATAATCT	0.393																																																	0								ENSG00000135521						309	300	303					6																	144178505		2203	4300	6503	LTV1	SO:0001583	missense	0			-	HGNC	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.463C>T	6.37:g.144178505C>T	ENSP00000356548:p.Pro155Ser	Somatic	0	59	0		0.41568620468393	11	15.38	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	Q96JX8	Missense_Mutation	SNP							pfam_LTV	p.P155S	ENST00000367576.5	37	c.463	CCDS5201.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929459	0.92389	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72821	-0.4177	9	0.33141	T	0.24	.	19.07	0.93130	0.0:1.0:0.0:0.0	.	155	Q96GA3	LTV1_HUMAN	S	155	.	ENSP00000356548:P155S	P	+	1	0	LTV1	144220198	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.441000	0.80485	2.522000	0.85027	0.585000	0.79938	CCA	-	pfam_LTV		0.393	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	protein_coding	OTTHUMT00000042532.1	C	NM_032860	-		144178505	1	no_errors	ENST00000367576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144178505	C	T	144178505	3	4	203	1	0	0	0	0	1	0	0	0	9083	855	30	2	481	2	LTV1	6	144178505	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1084305	144178505	26936562	178	16208	423	2									
LTV1	84946	genome.wustl.edu	37	chr6	144178506	144178506	+	Missense_Mutation	SNP	C	C	T													tgattttgactttgatgatcCagataatctgcttgaggatg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:144178506C>T	ENST00000367576.5	+	5	598	c.464C>T	c.(463-465)cCa>cTa	p.P155L		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	155	Asp-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTTGATGATCCAGATAATCTG	0.398																																																	0								ENSG00000135521						308	299	302					6																	144178506		2203	4300	6503	LTV1	SO:0001583	missense	0			-	HGNC	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.464C>T	6.37:g.144178506C>T	ENSP00000356548:p.Pro155Leu	Somatic	0	58	0		0.41568620468393	12	7.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q96JX8	Missense_Mutation	SNP							pfam_LTV	p.P155L	ENST00000367576.5	37	c.464	CCDS5201.1	6	.	.	.	.	.	.	.	.	.	.	C	30	5.056871	0.93846	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84098	0.0394	9	0.48119	T	0.1	.	19.07	0.93130	0.0:1.0:0.0:0.0	.	155	Q96GA3	LTV1_HUMAN	L	155	.	ENSP00000356548:P155L	P	+	2	0	LTV1	144220199	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.441000	0.80485	2.522000	0.85027	0.585000	0.79938	CCA	-	pfam_LTV		0.398	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	protein_coding	OTTHUMT00000042532.1	C	NM_032860	-		144178506	1	no_errors	ENST00000367576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144178506	C	T	144178506	3	4	203	1	0	0	0	0	1	0	0	0	9083	594	21	2	482	2	LTV1	6	144178506	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	144178506	26936561	179	16209	423	2									
PHF10	55274	genome.wustl.edu	37	chr6	170118904	170118904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggatatttccttttaaagGaggtcacacccaaatattca	6	9	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr6:170118904G>A	ENST00000339209.4	-	3	428	c.305C>T	c.(304-306)tCc>tTc	p.S102F	PHF10_ENST00000366780.4_Missense_Mutation_p.S102F|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	102	Essential to induce neural progenitor proliferation. {ECO:0000250}.|SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCTTTTAAAGGAGGTCACACC	0.313																																																	0								ENSG00000130024						79	85	83					6																	170118904		2203	4293	6496	PHF10	SO:0001583	missense	0			-	HGNC	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.305C>T	6.37:g.170118904G>A	ENSP00000341805:p.Ser102Phe	Somatic	0	83	0		0.41568620468393	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S102F	ENST00000339209.4	37	c.305	CCDS5308.2	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497240	0.85069	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.31510	1.49;1.49	5.49	5.49	0.81192	.	0.105878	0.64402	D	0.000002	T	0.52354	0.1729	M	0.80616	2.505	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.79108	0.992;0.903	T	0.56685	-0.7938	10	0.87932	D	0	-17.0443	16.8851	0.86074	0.0:0.0:1.0:0.0	.	102;102	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	F	102	ENSP00000355743:S102F;ENSP00000341805:S102F	ENSP00000341805:S102F	S	-	2	0	PHF10	169860829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.084000	0.94076	2.724000	0.93272	0.557000	0.71058	TCC	-	NULL		0.313	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	protein_coding	OTTHUMT00000346732.1	G	NM_018288	-		170118904	-1	no_errors	ENST00000339209	ensembl	human	known	74_37	missense	SNP	1.000	A	A	170118904	G	A	170118904	3	1	203	1	0	0	0	0	1	0	0	0	11823	1174	41	2	1231	2	PHF10	6	170118904	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	25940398	170118904	996163	180	16210											
RBAK	57786	genome.wustl.edu	37	chr7	5104552	5104552	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaatcccatgaatgtagtGaatgtggaaagttctctcag	10	6	2	3	rs539259619		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:5104552G>T	ENST00000353796.3	+	6	1789	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	RBAK_ENST00000396912.1_Nonsense_Mutation_p.E489*|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	489	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGAATGTAGTGAATGTGGAAA	0.378																																																	0								ENSG00000146587						64	64	64					7																	5104552		2203	4299	6502	RBAK	SO:0001587	stop_gained	0			-	HGNC	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1465G>T	7.37:g.5104552G>T	ENSP00000275423:p.Glu489*	Somatic	0	72	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E489*	ENST00000353796.3	37	c.1465	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.041349	0.98021	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	.	.	.	3.77	3.77	0.43336	.	0.129029	0.35495	N	0.003169	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8757	0.63651	0.0:0.0:1.0:0.0	.	.	.	.	X	489	.	.	E	+	1	0	RBAK	5071078	0.000000	0.05858	0.991000	0.47740	0.993000	0.82548	0.296000	0.19083	2.391000	0.81399	0.561000	0.74099	GAA	-	smart_Znf_C2H2-like		0.378	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	protein_coding	OTTHUMT00000241640.2	G	NM_021163	-		5104552	1	no_errors	ENST00000353796	ensembl	human	known	74_37	nonsense	SNP	0.358	T	T	5104552	G	T	5104552	4	4	203	1	0	0	0	0	0	1	0	0	13108	1291	45	3	1479	3	RBAK	7	5104552	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		5104552	154034111	181	16211											
RAPGEF5	9771	genome.wustl.edu	37	chr7	22259605	22259605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggagcttgcacatcacCcctgccttaagagttggaga	10	12	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:22259605C>T	ENST00000405243.1	-	9	959	c.876G>A	c.(874-876)ggG>ggA	p.G292G	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000344041.6_Silent_p.G139G			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGCACATCACCCCTGCCTTAA	0.418																																																	0								ENSG00000136237						73	69	70					7																	22259605		1879	4104	5983	RAPGEF5	SO:0001819	synonymous_variant	0			-	HGNC	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.876G>A	7.37:g.22259605C>T		Somatic	0	56	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	A4D140|Q8IXU5	Silent	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G139	ENST00000405243.1	37	c.417		7																																																																																			-	NULL		0.418	RAPGEF5-002	PUTATIVE	basic	protein_coding	RAPGEF5	protein_coding	OTTHUMT00000326591.1	C	NM_012294	-		22259605	-1	no_errors	ENST00000344041	ensembl	human	known	74_37	silent	SNP	0.951	T	T	22259605	C	T	22259605	2	4	203	1	0	0	0	0	0	0	0	1	13055	610	22	2		2	RAPGEF5	7	22259605	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	17155053	22259605	136879058	182	16212											
SKAP2	8935	genome.wustl.edu	37	chr7	26724359	26724359	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtatcttcttaccttgCtaagaatgtaaatcacatca	7	8	4	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:26724359C>A	ENST00000345317.2	-	11	1296	c.983G>T	c.(982-984)aGc>aTc	p.S328I	SKAP2_ENST00000539623.1_Missense_Mutation_p.S156I	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCTTACCTTGCTAAGAATGTA	0.373																																																	0								ENSG00000005020						95	88	90					7																	26724359		2203	4300	6503	SKAP2	SO:0001583	missense	0			-	HGNC		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.983G>T	7.37:g.26724359C>A	ENSP00000005587:p.Ser328Ile	Somatic	0	49	0		0.41568620468393	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.S328I	ENST00000345317.2	37	c.983	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770292	0.90108	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.32515	1.45;1.45	6.17	6.17	0.99709	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60964	-0.7158	10	0.87932	D	0	-14.2648	20.8794	0.99867	0.0:1.0:0.0:0.0	.	313;328	B7Z5N4;O75563	.;SKAP2_HUMAN	I	328;156;313	ENSP00000005587:S328I;ENSP00000443593:S156I	ENSP00000005587:S328I	S	-	2	0	SKAP2	26690884	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.270000	0.78493	2.941000	0.99782	0.655000	0.94253	AGC	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	protein_coding	OTTHUMT00000214128.1	C		-		26724359	-1	no_errors	ENST00000345317	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26724359	C	A	26724359	3	1	203	1	0	0	0	0	1	0	0	0	14364	797	28	3	104	3	SKAP2	7	26724359	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4464754	26724359	132414304	183	16213											
KIAA0895	23366	genome.wustl.edu	37	chr7	36423537	36423537	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttggccttttctctcCctgtaaaaataaaaagattt	6	8	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:36423537C>T	ENST00000297063.6	-	2	159	c.109G>A	c.(109-111)Gga>Aga	p.G37R		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	37	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTTTCTCTCCCTGTAAAAAT	0.294																																																	0								ENSG00000164542						105	94	97					7																	36423537		1806	4073	5879	KIAA0895	SO:0001630	splice_region_variant	0			-	HGNC	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.109-1G>A	7.37:g.36423537C>T		Somatic	0	81	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP							pfam_DUF1704	p.G37R	ENST00000297063.6	37	c.109	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	9.101	1.004049	0.19199	.	.	ENSG00000164542	ENST00000297063;ENST00000429651	.	.	.	4.05	2.04	0.26737	.	.	.	.	.	T	0.26629	0.0651	N	0.22421	0.69	0.28434	N	0.917148	B	0.20052	0.041	B	0.18871	0.023	T	0.21930	-1.0231	8	0.66056	D	0.02	.	5.368	0.16125	0.0:0.7052:0.0:0.2948	.	37	Q8NCT3	K0895_HUMAN	R	37	.	ENSP00000297063:G37R	G	-	1	0	KIAA0895	36390062	0.315000	0.24571	0.464000	0.27143	0.962000	0.63368	0.384000	0.20668	0.550000	0.28991	0.561000	0.74099	GGA	-	NULL		0.294	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	protein_coding	OTTHUMT00000337717.1	C	NM_015314	-	Missense_Mutation	36423537	-1	no_errors	ENST00000297063	ensembl	human	known	74_37	missense	SNP	0.502	T	T	36423537	C	T	36423537	5	4	203	1	0	0	0	0	0	0	1	0	8199	637	22	2	1506	2	KIAA0895	7	36423537	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	9699178	36423537	122715126	184	16214											
CCM2	83605	genome.wustl.edu	37	chr7	45104166	45104166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggacggggaggatatcatCctcagggtgcccatccatga	14	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:45104166C>T	ENST00000258781.6	+	4	542	c.393C>T	c.(391-393)atC>atT	p.I131I	CCM2_ENST00000541586.1_Silent_p.I73I|CCM2_ENST00000544363.1_Silent_p.I131I|CCM2_ENST00000474617.1_Silent_p.I125I|CCM2_ENST00000475551.1_Silent_p.I125I|CCM2_ENST00000381112.3_Silent_p.I152I|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	131	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATCATCCTCAGGGTGC	0.607																																																	0								ENSG00000136280						88	57	67					7																	45104166		2203	4300	6503	CCM2	SO:0001819	synonymous_variant	0			-	HGNC	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.393C>T	7.37:g.45104166C>T		Somatic	0	32	0		0.41568620468393	155	24.02	49	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP							pfscan_PTB/PI_dom	p.I152	ENST00000258781.6	37	c.456	CCDS5500.1	7																																																																																			-	pfscan_PTB/PI_dom		0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	protein_coding	OTTHUMT00000251348.1	C	NM_031443	-		45104166	1	no_errors	ENST00000381112	ensembl	human	known	74_37	silent	SNP	1.000	T	T	45104166	C	T	45104166	2	4	203	1	0	0	0	0	0	0	0	1	2910	845	30	2		2	CCM2	7	45104166	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	8680629	45104166	114034497	185	16215											
SRCRB4D	136853	genome.wustl.edu	37	chr7	76029884	76029884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcggccccggcagcggCtggggccccccaccagcctc	14	21	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:76029884C>T	ENST00000275560.3	-	4	541	c.194G>A	c.(193-195)aGc>aAc	p.S65N	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														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						CCGGCAGCGGCTGGGGCCCCC	0.657																																																	0								ENSG00000146700						4	4	4					7																	76029884		1823	3669	5492	SRCRB4D	SO:0001583	missense	0			-	HGNC																												ENST00000275560.3:c.194G>A	7.37:g.76029884C>T	ENSP00000275560:p.Ser65Asn	Somatic	0	39	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18		Missense_Mutation	SNP							pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.S65N	ENST00000275560.3	37	c.194	CCDS5585.1	7	.	.	.	.	.	.	.	.	.	.	C	7.579	0.668304	0.14776	.	.	ENSG00000146700	ENST00000275560	T	0.31510	1.49	4.73	3.83	0.44106	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.195628	0.53938	D	0.000055	T	0.21387	0.0515	L	0.28115	0.83	0.80722	D	1	P	0.35575	0.51	B	0.41813	0.367	T	0.03761	-1.1006	10	0.09590	T	0.72	.	8.1213	0.30974	0.0:0.755:0.1611:0.0838	.	65	Q8WTU2	SRB4D_HUMAN	N	65	ENSP00000275560:S65N	ENSP00000275560:S65N	S	-	2	0	SRCRB4D	75867820	1.000000	0.71417	0.950000	0.38849	0.910000	0.53928	1.750000	0.38329	1.331000	0.45412	-0.302000	0.09304	AGC	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.657	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	protein_coding	OTTHUMT00000253001.3	C		-		76029884	-1	no_errors	ENST00000275560	ensembl	human	known	74_37	missense	SNP	0.928	T	T	76029884	C	T	76029884	3	4	203	1	0	0	0	0	1	0	0	0	15144	797	28	2	1565	2	SRCRB4D	7	76029884	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	30925718	76029884	83108779	186	16216											
HGF	3082	genome.wustl.edu	37	chr7	81374338	81374338	+	Missense_Mutation	SNP	G	G	A													ttcaggcaagaatttgtgccGgtgtggtgtctgatgatccc					rs202185530		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:81374338G>A	ENST00000222390.5	-	6	950	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	HGF_ENST00000453411.1_Missense_Mutation_p.R237W|HGF_ENST00000444829.2_Missense_Mutation_p.R242W|HGF_ENST00000457544.2_Missense_Mutation_p.R237W	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	242	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATTTGTGCCGGTGTGGTGTC	0.408																																																	0								ENSG00000019991						87	85	86					7																	81374338		2203	4300	6503	HGF	SO:0001583	missense	0			-	HGNC		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.724C>T	7.37:g.81374338G>A	ENSP00000222390:p.Arg242Trp	Somatic	0	66	0		0.41568620468393	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.42	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP							pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R242W	ENST00000222390.5	37	c.724	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135641	0.77662	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.63	3.68	0.42216	Kringle (4);Kringle-like fold (1);	0.099482	0.64402	D	0.000005	T	0.71937	0.3399	L	0.45137	1.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;D;D	0.69142	0.957;0.885;0.962;0.953	T	0.72047	-0.4408	10	0.54805	T	0.06	.	10.5082	0.44847	0.0:0.0:0.6236:0.3764	.	237;242;237;242	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	W	242;237;242;237;242	ENSP00000222390:R242W;ENSP00000391238:R237W;ENSP00000389854:R242W;ENSP00000408270:R237W	ENSP00000222390:R242W	R	-	1	2	HGF	81212274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.255000	0.51484	2.562000	0.86427	0.655000	0.94253	CGG	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.408	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	protein_coding	OTTHUMT00000253315.2	G	NM_000601	rs202185530		81374338	-1	no_errors	ENST00000222390	ensembl	human	known	74_37	missense	SNP	1.000	A	A	81374338	G	A	81374338	3	1	203	1	0	0	0	0	1	0	0	0	7087	1115	39	1	1526	1	HGF	7	81374338	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5344454	81374338	77764325	187	16217	424	2									
HGF	3082	genome.wustl.edu	37	chr7	81374339	81374339	+	Silent	SNP	G	G	A													tcaggcaagaatttgtgccgGtgtggtgtctgatgatccca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:81374339G>A	ENST00000222390.5	-	6	949	c.723C>T	c.(721-723)caC>caT	p.H241H	HGF_ENST00000453411.1_Silent_p.H236H|HGF_ENST00000444829.2_Silent_p.H241H|HGF_ENST00000457544.2_Silent_p.H236H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	241	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATTTGTGCCGGTGTGGTGTCT	0.408																																																	0								ENSG00000019991						89	87	87					7																	81374339		2203	4300	6503	HGF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.723C>T	7.37:g.81374339G>A		Somatic	0	67	0		0.41568620468393	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP							pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.H241	ENST00000222390.5	37	c.723	CCDS5597.1	7																																																																																			-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.408	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	protein_coding	OTTHUMT00000253315.2	G	NM_000601	-		81374339	-1	no_errors	ENST00000222390	ensembl	human	known	74_37	silent	SNP	0.994	A	A	81374339	G	A	81374339	2	1	203	1	0	0	0	0	0	0	0	1	7087	1252	44	2		2	HGF	7	81374339	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	81374339	77764324	188	16218	424	2									
PCLO	27445	genome.wustl.edu	37	chr7	82764729	82764729	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttggctgaaggagagccatGaagggttggttgtttcacta	14	6	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:82764729G>A	ENST00000333891.9	-	3	2474	c.2137C>T	c.(2137-2139)Cat>Tat	p.H713Y	PCLO_ENST00000423517.2_Missense_Mutation_p.H713Y	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						GGAGAGCCATGAAGGGTTGGT	0.537																																																	0								ENSG00000186472						164	161	162					7																	82764729		1965	4158	6123	PCLO	SO:0001583	missense	0			-	HGNC	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.2137C>T	7.37:g.82764729G>A	ENSP00000334319:p.His713Tyr	Somatic	0	73	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.H713Y	ENST00000333891.9	37	c.2137	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	7.072	0.568444	0.13560	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.38	5.79	4.91	0.64330	.	.	.	.	.	T	0.13798	0.0334	L	0.29908	0.895	0.80722	D	1	P;P	0.47604	0.898;0.898	B;B	0.40165	0.321;0.321	T	0.01405	-1.1363	9	0.87932	D	0	.	12.5743	0.56355	0.0761:0.0:0.9239:0.0	.	713;713	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	659;713;713	ENSP00000334319:H713Y;ENSP00000388393:H713Y	ENSP00000334319:H713Y	H	-	1	0	PCLO	82602665	0.270000	0.24152	0.974000	0.42286	0.360000	0.29518	1.801000	0.38843	2.735000	0.93741	0.591000	0.81541	CAT	-	NULL		0.537	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82764729	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	0.888	A	A	82764729	G	A	82764729	3	1	203	1	0	0	0	0	1	0	0	0	11585	1290	45	2	13400	2	PCLO	7	82764729	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1390390	82764729	76373934	189	16219											
ABCB4	5244	genome.wustl.edu	37	chr7	87046812	87046812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatattctgtgcaattaaaGccaacctggttcctgtggcc	8	11	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:87046812G>A	ENST00000265723.4	-	21	2609	c.2498C>T	c.(2497-2499)gCt>gTt	p.A833V	ABCB4_ENST00000358400.3_Missense_Mutation_p.A833V|ABCB4_ENST00000359206.3_Missense_Mutation_p.A833V|ABCB4_ENST00000545634.1_Missense_Mutation_p.A833V|ABCB4_ENST00000453593.1_Missense_Mutation_p.A833V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	833	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TGCAATTAAAGCCAACCTGGT	0.423																																																	0								ENSG00000005471						64	60	62					7																	87046812		2203	4300	6503	ABCB4	SO:0001583	missense	0			-	HGNC	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2498C>T	7.37:g.87046812G>A	ENSP00000265723:p.Ala833Val	Somatic	0	65	0		0.41568620468393	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A833V	ENST00000265723.4	37	c.2498	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643561	0.87859	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.82	5.82	0.92795	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.921;1.0;1.0	D	0.95582	0.8647	10	0.87932	D	0	-12.3133	15.5827	0.76459	0.0:0.137:0.863:0.0	.	833;833;833	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	833	ENSP00000352135:A833V;ENSP00000351172:A833V;ENSP00000265723:A833V;ENSP00000392983:A833V;ENSP00000437465:A833V	ENSP00000265723:A833V	A	-	2	0	ABCB4	86884748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.980000	0.93460	2.765000	0.95021	0.650000	0.86243	GCT	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.423	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	protein_coding	OTTHUMT00000336083.1	G	NM_000443	-		87046812	-1	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	SNP	1.000	A	A	87046812	G	A	87046812	3	1	203	1	0	0	0	0	1	0	0	0	43	971	34	2	1394	2	ABCB4	7	87046812	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4282083	87046812	72091851	190	16220											
SAMD9	54809	genome.wustl.edu	37	chr7	92734623	92734623	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatcatcagattgaaaTggttaatgagggcttccttg	10	5	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:92734623T>G	ENST00000379958.2	-	3	1057	c.788A>C	c.(787-789)cAt>cCt	p.H263P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	263						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGATTGAAATGGTTAATGAG	0.393																																																	0								ENSG00000205413						159	154	156					7																	92734623		2203	4300	6503	SAMD9	SO:0001583	missense	0			-	HGNC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.788A>C	7.37:g.92734623T>G	ENSP00000369292:p.His263Pro	Somatic	0	37	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	22.73	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.H263P	ENST00000379958.2	37	c.788	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221948	0.39300	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14893	2.47;2.47	4.34	3.17	0.36434	.	0.180712	0.35124	U	0.003440	T	0.20861	0.0502	L	0.52573	1.65	0.09310	N	0.999998	D	0.56968	0.978	P	0.49012	0.598	T	0.05115	-1.0905	10	0.56958	D	0.05	-6.9793	9.035	0.36282	0.0:0.0907:0.0:0.9093	.	263	Q5K651	SAMD9_HUMAN	P	263	ENSP00000369292:H263P;ENSP00000414529:H263P	ENSP00000369292:H263P	H	-	2	0	SAMD9	92572559	0.002000	0.14202	0.929000	0.37066	0.712000	0.41017	0.549000	0.23329	0.800000	0.34041	0.491000	0.48974	CAT	-	NULL		0.393	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	protein_coding	OTTHUMT00000341761.1	T	NM_017654	-		92734623	-1	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	SNP	0.263	G	G	92734623	T	G	92734623	3	3	203	1	0	0	0	0	1	0	0	0	13834	1464	51	5	3985	5	SAMD9	7	92734623	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	5687811	92734623	66404040	191	16221											
TFR2	7036	genome.wustl.edu	37	chr7	100224890	100224890	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtgggcctcttgaaccttGaggtccccagagaactcgtt	13	11	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:100224890G>A	ENST00000462107.1	-	17	2279	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	TFR2_ENST00000223051.3_Silent_p.L664L|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Silent_p.L205L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	664					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CTTGAACCTTGAGGTCCCCAG	0.657																																																	0								ENSG00000106327						9	8	8					7																	100224890		1949	3789	5738	TFR2	SO:0001819	synonymous_variant	0			-	HGNC	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1992C>T	7.37:g.100224890G>A		Somatic	0	188	0		0.41568620468393	4	55.56	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	96	19.33	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP							pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.L664	ENST00000462107.1	37	c.1992	CCDS34707.1	7																																																																																			-	superfamily_TFR-like_dimer_dom		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	protein_coding	OTTHUMT00000356392.3	G	NM_003227	-		100224890	-1	no_errors	ENST00000223051	ensembl	human	known	74_37	silent	SNP	1.000	A	A	100224890	G	A	100224890	2	1	203	1	0	0	0	0	0	0	0	1	15818	1277	45	2		2	TFR2	7	100224890	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	7490267	100224890	58913773	192	16222											
MUC17	140453	genome.wustl.edu	37	chr7	100676336	100676336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacctgtgaccacttctagtGaagccagttcatcttctaca	6	13	4	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:100676336G>A	ENST00000306151.4	+	3	1703	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	547	59 X approximate tandem repeats.|Ser-rich.				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)					CACTTCTAGTGAAGCCAGTTC	0.498																																																	0								ENSG00000169876						331	342	338					7																	100676336		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.1639G>A	7.37:g.100676336G>A	ENSP00000302716:p.Glu547Lys	Somatic	0	121	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	64	15.79	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.E547K	ENST00000306151.4	37	c.1639	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.136	0.210732	0.09757	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.45	0.485	0.16830	.	.	.	.	.	T	0.01124	0.0037	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.24297	-1.0164	9	0.06236	T	0.91	.	2.1815	0.03876	0.1965:0.0:0.4938:0.3097	.	547	Q685J3	MUC17_HUMAN	K	547	ENSP00000302716:E547K	ENSP00000302716:E547K	E	+	1	0	MUC17	100463056	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.028000	0.13644	0.178000	0.19917	0.501000	0.49751	GAA	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105	-		100676336	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	A	A	100676336	G	A	100676336	3	1	203	1	0	0	0	0	1	0	0	0	9976	1291	45	2	1649	2	MUC17	7	100676336	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	451446	100676336	58462327	193	16223											
MLL5	55904	genome.wustl.edu	37	chr7	104714102	104714102	+	Silent	SNP	C	C	T													agggcagtgctactacaacgCcggaaaagggaaaatatgtc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:104714102C>T	ENST00000311117.3	+	7	1079	c.534C>T	c.(532-534)cgC>cgT	p.R178R	KMT2E_ENST00000334877.4_Silent_p.R178R|KMT2E_ENST00000476671.1_Silent_p.R178R|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.R178R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	178					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TACTACAACGCCGGAAAAGGG	0.323																																																	0								ENSG00000005483						59	60	60					7																	104714102		2203	4300	6503	KMT2E	SO:0001819	synonymous_variant	0			-	HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.534C>T	7.37:g.104714102C>T		Somatic	0	201	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	86	24.35	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP							pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.R178	ENST00000311117.3	37	c.534	CCDS34723.1	7																																																																																			-	NULL		0.323	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	C		-		104714102	1	no_errors	ENST00000257745	ensembl	human	known	74_37	silent	SNP	1.000	T	T	104714102	C	T	104714102	2	4	203	1	0	0	0	0	0	0	0	1	9626	726	26	2		2	MLL5	7	104714102	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4037766	104714102	54424561	194	16224	425	2									
MLL5	55904	genome.wustl.edu	37	chr7	104714103	104714103	+	Silent	SNP	C	C	A													gggcagtgctactacaacgcCggaaaagggaaaatatgtca					rs199652176		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:104714103C>A	ENST00000311117.3	+	7	1080	c.535C>A	c.(535-537)Cgg>Agg	p.R179R	KMT2E_ENST00000334877.4_Silent_p.R179R|KMT2E_ENST00000476671.1_Silent_p.R179R|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.R179R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	179					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACTACAACGCCGGAAAAGGGA	0.328																																																	0								ENSG00000005483						59	60	60					7																	104714103		2203	4300	6503	KMT2E	SO:0001819	synonymous_variant	0			-	HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.535C>A	7.37:g.104714103C>A		Somatic	0	200	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	88	24.14	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP							pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.R179	ENST00000311117.3	37	c.535	CCDS34723.1	7																																																																																			-	NULL		0.328	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	C		-		104714103	1	no_errors	ENST00000257745	ensembl	human	known	74_37	silent	SNP	1.000	A	A	104714103	C	A	104714103	2	1	203	1	0	0	0	0	0	0	0	1	9626	643	23	3		3	MLL5	7	104714103	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	104714103	54424560	195	16225	425	2									
LAMB1	3912	genome.wustl.edu	37	chr7	107626666	107626666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaatatcgagaatcacaaAttatgtcatcgacttttttc	5	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:107626666A>T	ENST00000222399.6	-	6	796	c.566T>A	c.(565-567)aTt>aAt	p.I189N	LAMB1_ENST00000393560.1_Missense_Mutation_p.I189N|LAMB1_ENST00000393561.1_Missense_Mutation_p.I213N	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGAATCACAAATTATGTCATC	0.398																																																	0								ENSG00000091136						110	108	109					7																	107626666		2203	4300	6503	LAMB1	SO:0001583	missense	0			-	HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.566T>A	7.37:g.107626666A>T	ENSP00000222399:p.Ile189Asn	Somatic	0	81	0		0.41568620468393	18	25	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	Q14D91	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.I189N	ENST00000222399.6	37	c.566	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769300	0.90020	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.79454	-1.27;-1.27;-1.27	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.88680	0.6502	M	0.83953	2.67	0.80722	D	1	D;D;D	0.76494	0.989;0.998;0.999	D;D;D	0.71414	0.928;0.972;0.973	D	0.90257	0.4298	9	0.87932	D	0	.	16.2565	0.82519	1.0:0.0:0.0:0.0	.	189;189;213	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	N	213;189;189	ENSP00000377191:I213N;ENSP00000222399:I189N;ENSP00000377190:I189N	ENSP00000222399:I189N	I	-	2	0	LAMB1	107413902	1.000000	0.71417	0.973000	0.42090	0.913000	0.54294	9.339000	0.96797	2.235000	0.73313	0.533000	0.62120	ATT	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.398	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	A	NM_002291	-		107626666	-1	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107626666	A	T	107626666	3	4	203	1	0	0	0	0	1	0	0	0	8612	101	4	5	4910	5	LAMB1	7	107626666	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	2912563	107626666	51511997	196	16226											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121668615	121668615	+	Silent	SNP	C	C	T													tttatttccaggaaatgcttCcagactgcacacttttactt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:121668615C>T	ENST00000393386.2	+	14	5409	c.4998C>T	c.(4996-4998)ttC>ttT	p.F1666F	PTPRZ1_ENST00000449182.1_Silent_p.F806F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1666					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGAAATGCTTCCAGACTGCAC	0.363																																																	0								ENSG00000106278						153	133	139					7																	121668615		2203	4300	6503	PTPRZ1	SO:0001819	synonymous_variant	0			-	HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4998C>T	7.37:g.121668615C>T		Somatic	0	61	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.F1666	ENST00000393386.2	37	c.4998	CCDS34740.1	7																																																																																			-	NULL		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	C	NM_002851	-		121668615	1	no_errors	ENST00000393386	ensembl	human	known	74_37	silent	SNP	1.000	T	T	121668615	C	T	121668615	2	4	203	1	0	0	0	0	0	0	0	1	12822	854	30	2		2	PTPRZ1	7	121668615	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	14041949	121668615	37470048	197	16227	426	2									
PTPRZ1	5803	genome.wustl.edu	37	chr7	121668616	121668616	+	Nonsense_Mutation	SNP	C	C	T													ttatttccaggaaatgcttcCagactgcacacttttactta							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:121668616C>T	ENST00000393386.2	+	14	5410	c.4999C>T	c.(4999-5001)Cag>Tag	p.Q1667*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Q807*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1667					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAATGCTTCCAGACTGCACA	0.363																																																	0								ENSG00000106278						152	132	139					7																	121668616		2203	4300	6503	PTPRZ1	SO:0001587	stop_gained	0			-	HGNC	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4999C>T	7.37:g.121668616C>T	ENSP00000377047:p.Gln1667*	Somatic	0	61	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1667*	ENST00000393386.2	37	c.4999	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	42	9.744281	0.99253	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	.	.	.	X	1667;807	.	ENSP00000377047:Q1667X	Q	+	1	0	PTPRZ1	121455852	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.373000	0.79623	2.751000	0.94390	0.650000	0.86243	CAG	-	NULL		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	C	NM_002851	-		121668616	1	no_errors	ENST00000393386	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	121668616	C	T	121668616	4	4	203	1	0	0	0	0	0	1	0	0	12822	595	21	2	5053	2	PTPRZ1	7	121668616	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	121668616	37470047	198	16228	426	2									
FEZF1	389549	genome.wustl.edu	37	chr7	121943276	121943276	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagggtgcttgcttgcctGaaaccttttccgcacacttt	8	13	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:121943276G>A	ENST00000442488.2	-	2	958	c.891C>T	c.(889-891)ttC>ttT	p.F297F	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Silent_p.F247F|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Silent_p.F293F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	297					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|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)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTGCTTGCCTGAAACCTTTTC	0.458																																																	0								ENSG00000128610						144	137	139					7																	121943276		2203	4300	6503	FEZF1	SO:0001819	synonymous_variant	0			-	HGNC	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.891C>T	7.37:g.121943276G>A		Somatic	0	103	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F297	ENST00000442488.2	37	c.891	CCDS34741.2	7																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	protein_coding	OTTHUMT00000347410.1	G	NM_001024613	-		121943276	-1	no_errors	ENST00000442488	ensembl	human	known	74_37	silent	SNP	1.000	A	A	121943276	G	A	121943276	2	1	203	1	0	0	0	0	0	0	0	1	5827	1281	45	2		2	FEZF1	7	121943276	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	274660	121943276	37195387	199	16229											
PAX4	5078	genome.wustl.edu	37	chr7	127255454	127255454	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaggtgctggcccattaCcttaaggatccgtgagatgt	12	8	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:127255454C>T	ENST00000341640.2	-	1	326		c.e1+1		PAX4_ENST00000378740.2_Splice_Site|PAX4_ENST00000338516.3_Splice_Site|PAX4_ENST00000463946.1_5'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4						cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGGCCCATTACCTTAAGGATC	0.592																																					Ovarian(113;737 1605 7858 27720 34092)												0								ENSG00000106331						81	82	81					7																	127255454		2203	4300	6503	PAX4	SO:0001630	splice_region_variant	0			-	HGNC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.120+1G>A	7.37:g.127255454C>T		Somatic	0	58	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	O95161|Q6B0H0	Splice_Site	SNP							-	e1+1	ENST00000341640.2	37	c.120+1	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795384	0.70452	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4002	0.87458	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PAX4	127042690	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.381000	0.79718	2.693000	0.91896	0.655000	0.94253	.	-	-		0.592	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	protein_coding	OTTHUMT00000349165.1	C		-	Intron	127255454	-1	no_errors	ENST00000341640	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	127255454	C	T	127255454	5	4	203	1	0	0	0	0	0	0	1	0	11483	521	18	2	946	2	PAX4	7	127255454	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	5312178	127255454	31883209	200	16230											
DENND2A	27147	genome.wustl.edu	37	chr7	140273686	140273686	+	Silent	SNP	G	G	A													tcatcagggctgctgggagtGgagggagggctgattttgga					rs528367786		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:140273686G>A	ENST00000275884.6	-	5	1785	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	DENND2A_ENST00000492720.1_Silent_p.S456S|DENND2A_ENST00000496613.1_Silent_p.S456S|DENND2A_ENST00000537639.1_Silent_p.S456S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	456					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGCTGGGAGTGGAGGGAGGGC	0.502																																																	0								ENSG00000146966						223	222	222					7																	140273686		1922	4133	6055	DENND2A	SO:0001819	synonymous_variant	0			-	HGNC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1368C>T	7.37:g.140273686G>A		Somatic	0	100	0		0.41568620468393	21	12.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	74	22.92	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S456	ENST00000275884.6	37	c.1368	CCDS43659.1	7																																																																																			-	NULL		0.502	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	protein_coding	OTTHUMT00000348742.1	G	NM_015689	-		140273686	-1	no_errors	ENST00000275884	ensembl	human	known	74_37	silent	SNP	0.990	A	A	140273686	G	A	140273686	2	1	203	1	0	0	0	0	0	0	0	1	4431	1335	47	2		2	DENND2A	7	140273686	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	13018232	140273686	18864977	201	16231	427	2									
DENND2A	27147	genome.wustl.edu	37	chr7	140273687	140273687	+	Missense_Mutation	SNP	G	G	A													catcagggctgctgggagtgGagggagggctgattttggaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:140273687G>A	ENST00000275884.6	-	5	1784	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	DENND2A_ENST00000492720.1_Missense_Mutation_p.S456F|DENND2A_ENST00000496613.1_Missense_Mutation_p.S456F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S456F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	456					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTGGGAGTGGAGGGAGGGCT	0.502																																																	0								ENSG00000146966						225	223	223					7																	140273687		1918	4133	6051	DENND2A	SO:0001583	missense	0			-	HGNC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1367C>T	7.37:g.140273687G>A	ENSP00000275884:p.Ser456Phe	Somatic	0	102	0		0.41568620468393	21	12.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	73	23.96	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S456F	ENST00000275884.6	37	c.1367	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219045	0.79464	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000475837	T;T;T;T	0.14893	3.17;3.17;3.17;2.47	4.85	4.85	0.62838	.	0.138886	0.49916	D	0.000130	T	0.37489	0.1005	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.971	T	0.10154	-1.0642	10	0.87932	D	0	-32.0878	18.5136	0.90926	0.0:0.0:1.0:0.0	.	456;456	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	F	456;456;456;456;79	ENSP00000275884:S456F;ENSP00000442245:S456F;ENSP00000419654:S456F;ENSP00000419464:S456F	ENSP00000275884:S456F	S	-	2	0	DENND2A	139920156	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.115000	0.94336	2.683000	0.91414	0.313000	0.20887	TCC	-	NULL		0.502	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	protein_coding	OTTHUMT00000348742.1	G	NM_015689	-		140273687	-1	no_errors	ENST00000275884	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140273687	G	A	140273687	3	1	203	1	0	0	0	0	1	0	0	0	4431	1174	41	2	1722	2	DENND2A	7	140273687	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	140273687	18864976	202	16232	427	2									
TAS2R40	259286	genome.wustl.edu	37	chr7	142919827	142919827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccaccctgctgatcctctCtctcaagagacacaccctac	5	18	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:142919827C>T	ENST00000408947.3	+	1	698	c.656C>T	c.(655-657)tCt>tTt	p.S219F	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	219					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)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTGATCCTCTCTCTCAAGAGA	0.507																																																	0								ENSG00000221937						112	108	109					7																	142919827		1947	4146	6093	TAS2R40	SO:0001583	missense	0			-	HGNC	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.656C>T	7.37:g.142919827C>T	ENSP00000386210:p.Ser219Phe	Somatic	0	34	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A4D2I2|Q645W6	Missense_Mutation	SNP							pfam_TAS2_rcpt	p.S219F	ENST00000408947.3	37	c.656	CCDS43662.1	7	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377720	0.82682	.	.	ENSG00000221937	ENST00000408947	T	0.01572	4.76	5.74	5.74	0.90152	.	0.178264	0.37393	U	0.002110	T	0.14743	0.0356	M	0.89414	3.03	0.48341	D	0.999636	D	0.89917	1.0	D	0.97110	1.0	T	0.00126	-1.2020	10	0.87932	D	0	.	18.9022	0.92448	0.0:1.0:0.0:0.0	.	219	P59535	T2R40_HUMAN	F	219	ENSP00000386210:S219F	ENSP00000386210:S219F	S	+	2	0	TAS2R40	142629949	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	5.285000	0.65633	2.700000	0.92200	0.655000	0.94253	TCT	-	pfam_TAS2_rcpt		0.507	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R40	protein_coding	OTTHUMT00000327097.1	C		-		142919827	1	no_errors	ENST00000408947	ensembl	human	known	74_37	missense	SNP	1.000	T	T	142919827	C	T	142919827	3	4	203	1	0	0	0	0	1	0	0	0	15585	913	32	2	658	2	TAS2R40	7	142919827	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2646140	142919827	16218836	203	16233											
OR2A14	135941	genome.wustl.edu	37	chr7	143826735	143826736	+	Frame_Shift_Del	DEL	TC	TC	-													tcatgaaatcaaccacttctTctgtgaaatcctgtctgtcc					rs527649074	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:143826735_143826736delTC	ENST00000408899.2	+	1	585_586	c.530_531delTC	c.(529-531)ttcfs	p.F177fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AACCACTTCTTCTGTGAAATCC	0.559																																																	0								ENSG00000221938																																			OR2A14	SO:0001589	frameshift_variant	0				HGNC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.530_531delTC	7.37:g.143826735_143826736delTC	ENSP00000386137:p.Phe177fs	Somatic	0	57	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	Q6IF41|Q8NGT8	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177fs	ENST00000408899.2	37	c.530_531	CCDS43672.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.559	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	protein_coding	OTTHUMT00000349980.1	TC				143826736	1	no_errors	ENST00000408899	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	143826736	TC	-	143826735	7	5	203	1	0	1	0	1	0	0	0	0	10978	1783	62	0	532	0	OR2A14	7	143826735	Frame_Shift_Del	DEL	TC	TCGA-QQ-A5VD-01A-21D-A32I-09	906908	143826735	15311928	204	16234											
CTAGE4	100142659	genome.wustl.edu	37	chr7	143965765	143965765	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttaaatgtcttgcagatGattttggcttcagctatttg	8	5	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:143965765G>A	ENST00000487179.1	-	1	616	c.579C>T	c.(577-579)atC>atT	p.I193I	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA			P0CG41	CTGE8_HUMAN	CTAGE family, member 8	193						integral component of membrane (GO:0016021)											TCTTGCAGATGATTTTGGCTT	0.348																																																	0								ENSG00000244693																																			CTAGE8	SO:0001819	synonymous_variant	0			-	HGNC	AK292236	CCDS64791.1	7q35	2014-08-13			ENSG00000244693	ENSG00000244693			37294	protein-coding gene	gene with protein product							Standard	NM_001278507		Approved			P0CG41	OTTHUMG00000158009	ENST00000487179.1:c.579C>T	7.37:g.143965765G>A		Somatic	0	21	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00		Silent	SNP							NULL	p.I193	ENST00000487179.1	37	c.579		7																																																																																			-	NULL		0.348	CTAGE8-001	KNOWN	basic|appris_principal	protein_coding	CTAGE8	protein_coding	OTTHUMT00000349996.1	G		-		143965765	-1	no_errors	ENST00000487179	ensembl	human	known	74_37	silent	SNP	0.094	A	A	143965765	G	A	143965765	2	1	203	1	0	0	0	0	0	0	0	1	3995	1280	45	2		2	CTAGE4	7	143965765	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	139030	143965765	15172898	205	16235											
NCAPG2	54892	genome.wustl.edu	37	chr7	158486169	158486169	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctagtaattcatttaggctGaaaggatcagaggcctcttt	9	7	4	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr7:158486169G>A	ENST00000409423.1	-	4	271	c.99C>T	c.(97-99)ttC>ttT	p.F33F	NCAPG2_ENST00000449727.2_Silent_p.F33F|NCAPG2_ENST00000479022.1_5'UTR|NCAPG2_ENST00000356309.3_Silent_p.F33F|NCAPG2_ENST00000409339.3_Silent_p.F33F	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	33					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATTTAGGCTGAAAGGATCAG	0.318																																																	0								ENSG00000146918						95	85	88					7																	158486169		1816	4087	5903	NCAPG2	SO:0001819	synonymous_variant	0			-	HGNC	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.99C>T	7.37:g.158486169G>A		Somatic	0	27	0		0.41568620468393	3	80	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP							pfam_Condensin2_G2,superfamily_ARM-type_fold	p.F33	ENST00000409423.1	37	c.99	CCDS43686.1	7																																																																																			-	superfamily_ARM-type_fold		0.318	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	protein_coding	OTTHUMT00000327111.1	G	NM_017760	-		158486169	-1	no_errors	ENST00000409339	ensembl	human	known	74_37	silent	SNP	1.000	A	A	158486169	G	A	158486169	2	1	203	1	0	0	0	0	0	0	0	1	10210	1281	45	2		2	NCAPG2	7	158486169	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14520404	158486169	652494	206	16236											
CSMD1	64478	genome.wustl.edu	37	chr8	2820869	2820869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccccagcggaaatcacttCcctccactgttccattctgc	6	17	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:2820869C>T	ENST00000520002.1	-	61	9887	c.9332G>A	c.(9331-9333)gGa>gAa	p.G3111E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2934E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3110E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2933E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2934E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3111E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3111	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GAAATCACTTCCCTCCACTGT	0.582																																																	0								ENSG00000183117						137	143	141					8																	2820869		1942	4158	6100	CSMD1	SO:0001583	missense	0			-	HGNC			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.9332G>A	8.37:g.2820869C>T	ENSP00000430733:p.Gly3111Glu	Somatic	0	39	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G3111E	ENST00000520002.1	37	c.9332		8	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184531	0.57909	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.93	5.93	0.95920	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.60287	0.2257	M	0.86573	2.825	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	T	0.64032	-0.6502	10	0.66056	D	0.02	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	3111;3111;2933	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	E	2934;3111;2972;3110;2933	ENSP00000383047:G2934E;ENSP00000430733:G3111E;ENSP00000441462:G3110E;ENSP00000446243:G2933E	ENSP00000320445:G2972E	G	-	2	0	CSMD1	2808276	1.000000	0.71417	0.963000	0.40424	0.099000	0.18886	7.642000	0.83385	2.797000	0.96272	0.655000	0.94253	GGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.582	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225	-		2820869	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2820869	C	T	2820869	3	4	203	1	0	0	0	0	1	0	0	0	3946	855	30	2	1409	2	CSMD1	8	2820869	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		2820869	143543153	207	16237											
FAM167A	83648	genome.wustl.edu	37	chr8	11301820	11301820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagcctcagtttctcgGtgagggccttcaggctccgg	12	14	4	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:11301820G>A	ENST00000528897.1	-	2	720	c.101C>T	c.(100-102)aCc>aTc	p.T34I	FAM167A_ENST00000284486.4_Missense_Mutation_p.T34I|FAM167A_ENST00000534308.1_Missense_Mutation_p.T34I|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	34										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CAGTTTCTCGGTGAGGGCCTT	0.667																																																	0								ENSG00000154319						67	76	73					8																	11301820		2203	4300	6503	FAM167A	SO:0001583	missense	0			-	HGNC		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"chromosome 8 open reading frame 13"	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.101C>T	8.37:g.11301820G>A	ENSP00000436655:p.Thr34Ile	Somatic	0	60	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP							pfam_FAM167	p.T34I	ENST00000528897.1	37	c.101	CCDS5981.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471133	0.84533	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.34	4.47	0.54385	.	0.118903	0.56097	N	0.000034	T	0.14960	0.0361	M	0.76574	2.34	0.53005	D	0.999968	P	0.47106	0.89	B	0.43623	0.425	T	0.01869	-1.1257	10	0.87932	D	0	-41.5097	13.0846	0.59133	0.0766:0.0:0.9234:0.0	.	34	Q96KS9	F167A_HUMAN	I	34	ENSP00000284486:T34I;ENSP00000432232:T34I;ENSP00000436655:T34I;ENSP00000431951:T34I	ENSP00000284486:T34I	T	-	2	0	FAM167A	11339230	1.000000	0.71417	0.785000	0.31869	0.980000	0.70556	9.080000	0.94040	1.497000	0.48584	0.655000	0.94253	ACC	-	NULL		0.667	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	FAM167A	protein_coding	OTTHUMT00000383901.1	G		-		11301820	-1	no_errors	ENST00000284486	ensembl	human	known	74_37	missense	SNP	0.995	A	A	11301820	G	A	11301820	3	1	203	1	0	0	0	0	1	0	0	0	5485	1261	44	2	551	2	FAM167A	8	11301820	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	8480951	11301820	135062202	208	16238											
DLC1	10395	genome.wustl.edu	37	chr8	13357080	13357080	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaattcagtttcaccAgctattccccaggagttaga	8	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:13357080A>G	ENST00000276297.4	-	2	910	c.501T>C	c.(499-501)gcT>gcC	p.A167A	DLC1_ENST00000511869.1_Silent_p.A167A|DLC1_ENST00000316609.5_Silent_p.A167A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	167					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						CAGTTTCACCAGCTATTCCCC	0.413																																																	0								ENSG00000164741						127	132	131					8																	13357080		2202	4298	6500	DLC1	SO:0001819	synonymous_variant	0			-	HGNC	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.501T>C	8.37:g.13357080A>G		Somatic	0	28	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP							pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.A167	ENST00000276297.4	37	c.501	CCDS5989.1	8																																																																																			-	NULL		0.413	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	A	NM_182643, NM_006094	-		13357080	-1	no_errors	ENST00000276297	ensembl	human	known	74_37	silent	SNP	0.002	G	G	13357080	A	G	13357080	2	3	203	1	0	0	0	0	0	0	0	1	4552	175	7	5		5	DLC1	8	13357080	Silent	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	2055260	13357080	133006942	209	16239											
EXTL3	2137	genome.wustl.edu	37	chr8	28595072	28595072	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgggaccgcatcgtgggcttCcctggccgttaccacgcatg	13	15	0	0	rs375444536		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:28595072C>G	ENST00000220562.4	+	5	3215	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F387L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	771					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCGTGGGCTTCCCTGGCCGTT	0.542																																																	0								ENSG00000012232						195	158	171					8																	28595072		2203	4300	6503	EXTL3	SO:0001583	missense	0			-	HGNC	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2313C>G	8.37:g.28595072C>G	ENSP00000220562:p.Phe771Leu	Somatic	0	111	0		0.41568620468393	21	43.24	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	87	18.69	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP							pfam_HexNAc_Trfase_a,pfam_Exostosin	p.F771L	ENST00000220562.4	37	c.2313	CCDS6070.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.84|15.84	2.953181|2.953181	0.53293|0.53293	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000523149;ENST00000220562;ENST00000521532;ENST00000517738|ENST00000521473	D;D;D;D|.	0.87256|.	-2.23;-2.23;-2.23;-2.23|.	5.18|5.18	2.2|2.2	0.27929|0.27929	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63977|0.63977	0.2557|0.2557	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	P|.	0.40431|.	0.717|.	P|.	0.49853|.	0.624|.	T|T	0.61520|0.61520	-0.7046|-0.7046	10|5	0.62326|.	D|.	0.03|.	-27.5837|-27.5837	9.0632|9.0632	0.36447|0.36447	0.0:0.6792:0.0:0.3208|0.0:0.6792:0.0:0.3208	.|.	771|.	O43909|.	EXTL3_HUMAN|.	L|A	387;771;69;17|105	ENSP00000428691:F387L;ENSP00000220562:F771L;ENSP00000431013:F69L;ENSP00000430652:F17L|.	ENSP00000220562:F771L|.	F|P	+|+	3|1	2|0	EXTL3|EXTL3	28650991|28650991	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.567000|0.567000	0.23608|0.23608	0.763000|0.763000	0.33175|0.33175	0.650000|0.650000	0.86243|0.86243	TTC|CCC	-	pfam_HexNAc_Trfase_a		0.542	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	protein_coding	OTTHUMT00000219987.3	C	NM_001440	-		28595072	1	no_errors	ENST00000220562	ensembl	human	known	74_37	missense	SNP	1.000	G	G	28595072	C	G	28595072	3	3	203	1	0	0	0	0	1	0	0	0	5329	854	30	4	2323	4	EXTL3	8	28595072	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	15237992	28595072	117768950	210	16240											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37730425	37730425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtttgcaactctgccttaGggagcaagggtggtccttca	12	10	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:37730425G>T	ENST00000330843.4	-	4	1907	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	632					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)			CTCTGCCTTAGGGAGCAAGGG	0.498																																																	0								ENSG00000156675						112	105	107					8																	37730425		2203	4300	6503	RAB11FIP1	SO:0001583	missense	0			-	HGNC	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.1895C>A	8.37:g.37730425G>T	ENSP00000331342:p.Pro632His	Somatic	0	46	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P632H	ENST00000330843.4	37	c.1895	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347401	0.41599	.	.	ENSG00000156675	ENST00000330843	T	0.11712	2.75	5.49	1.81	0.25067	.	0.532845	0.17216	N	0.182508	T	0.05364	0.0142	N	0.14661	0.345	0.25769	N	0.98486	B	0.06786	0.001	B	0.04013	0.001	T	0.33904	-0.9850	10	0.45353	T	0.12	-4.8755	3.4883	0.07627	0.5704:0.0:0.2688:0.1608	.	632	Q6WKZ4	RFIP1_HUMAN	H	632	ENSP00000331342:P632H	ENSP00000331342:P632H	P	-	2	0	RAB11FIP1	37849583	0.012000	0.17670	0.003000	0.11579	0.008000	0.06430	0.370000	0.20433	0.064000	0.16427	-0.302000	0.09304	CCT	-	NULL		0.498	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	G	NM_025151	-		37730425	-1	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	SNP	0.009	T	T	37730425	G	T	37730425	3	4	203	1	0	0	0	0	1	0	0	0	12901	1000	35	3	1968	3	RAB11FIP1	8	37730425	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	9135353	37730425	108633597	211	16241											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37732414	37732414	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggcctctgagtttgcgGgggccatgttttccctgagg	15	9	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:37732414G>C	ENST00000330843.4	-	3	1253	c.1241C>G	c.(1240-1242)cCc>cGc	p.P414R	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P266R|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P414R|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P266R	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	414					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)			TGAGTTTGCGGGGGCCATGTT	0.562																																																	0								ENSG00000156675						62	59	60					8																	37732414		2203	4300	6503	RAB11FIP1	SO:0001583	missense	0			-	HGNC	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.1241C>G	8.37:g.37732414G>C	ENSP00000331342:p.Pro414Arg	Somatic	0	35	0		0.41568620468393	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P414R	ENST00000330843.4	37	c.1241	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980784	0.18812	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.32272	2.22;2.53;1.5;1.46	4.91	2.09	0.27110	.	0.411423	0.23404	N	0.048548	T	0.48059	0.1479	M	0.72894	2.215	0.09310	N	1	D;P;D;P	0.63880	0.993;0.904;0.979;0.933	D;P;P;P	0.62955	0.909;0.667;0.777;0.564	T	0.37865	-0.9687	10	0.59425	D	0.04	0.2384	10.4391	0.44455	0.2174:0.0:0.7826:0.0	.	266;266;414;414	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	R	414;414;266;266	ENSP00000287263:P414R;ENSP00000331342:P414R;ENSP00000430009:P266R;ENSP00000430680:P266R	ENSP00000287263:P414R	P	-	2	0	RAB11FIP1	37851572	0.016000	0.18221	0.001000	0.08648	0.015000	0.08874	1.363000	0.34159	0.123000	0.18342	-0.253000	0.11424	CCC	-	NULL		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	G	NM_025151	-		37732414	-1	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	SNP	0.014	C	C	37732414	G	C	37732414	3	2	203	1	0	0	0	0	1	0	0	0	12901	1232	43	4	2626	4	RAB11FIP1	8	37732414	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1989	37732414	108631608	212	16242											
FGFR1	2260	genome.wustl.edu	37	chr8	38279355	38279355	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagagtgatgggagagtccGatagagttacccgccaagca	14	9	0	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:38279355G>A	ENST00000447712.2	-	8	1982	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	FGFR1_ENST00000532791.1_Silent_p.I347I|FGFR1_ENST00000397091.5_Silent_p.I345I|FGFR1_ENST00000397113.2_Silent_p.I345I|FGFR1_ENST00000397108.4_Silent_p.I345I|FGFR1_ENST00000326324.6_Silent_p.I256I|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000356207.5_Silent_p.I258I|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000425967.3_Silent_p.I378I|FGFR1_ENST00000335922.5_Silent_p.I339I	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	347	Ig-like C2-type 3.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGAGAGTCCGATAGAGTTAC	0.537		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0								ENSG00000077782						108	113	111					8																	38279355		2142	4288	6430	FGFR1	SO:0001819	synonymous_variant	0			-	HGNC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1041C>T	8.37:g.38279355G>A		Somatic	0	60	0		0.41568620468393	132	29.79	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I378	ENST00000447712.2	37	c.1134	CCDS6107.2	8																																																																																			-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.537	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	protein_coding		G		-		38279355	-1	no_errors	ENST00000425967	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38279355	G	A	38279355	2	1	203	1	0	0	0	0	0	0	0	1	5865	1048	37	1		1	FGFR1	8	38279355	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	546941	38279355	108084667	213	16243											
RUNX1T1	862	genome.wustl.edu	37	chr8	93017458	93017458	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgctgggcgaggtacTgggcagggttctgtttggcc	17	8	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:93017458T>A	ENST00000523629.1	-	6	1080	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q172L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q220L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q209L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q182L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q172L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.Q172L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q182L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q172L	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)	209	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)			GGCGAGGTACTGGGCAGGGTT	0.582																																																	0								ENSG00000079102						168	131	144					8																	93017458		2203	4300	6503	RUNX1T1	SO:0001583	missense	0			-	HGNC	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.626A>T	8.37:g.93017458T>A	ENSP00000428543:p.Gln209Leu	Somatic	0	26	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP							pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.Q220L	ENST00000523629.1	37	c.659	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	T	29.6	5.021530	0.93462	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992	T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.67	5.67	0.87782	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.73962	2.25	0.80722	D	1	D;P;D	0.71674	0.988;0.954;0.998	D;D;D	0.87578	0.963;0.932;0.998	T	0.73385	-0.3999	10	0.87932	D	0	-16.6896	15.8933	0.79318	0.0:0.0:0.0:1.0	.	220;209;182	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	209;182;209;172;172;172;220;182;172;209	ENSP00000428543:Q209L;ENSP00000379520:Q182L;ENSP00000265814:Q209L;ENSP00000353504:Q172L;ENSP00000390137:Q172L;ENSP00000428742:Q172L;ENSP00000402257:Q220L;ENSP00000430728:Q182L;ENSP00000429728:Q172L;ENSP00000431094:Q209L	ENSP00000265814:Q209L	Q	-	2	0	RUNX1T1	93086634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.158000	0.67659	0.533000	0.62120	CAG	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO		0.582	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	T	NM_004349, NM_175635	-		93017458	-1	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93017458	T	A	93017458	3	1	203	1	0	0	0	0	1	0	0	0	13755	1580	55	5	1216	5	RUNX1T1	8	93017458	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	54738103	93017458	53346564	214	16244											
CSMD3	114788	genome.wustl.edu	37	chr8	113267508	113267508	+	Nonsense_Mutation	SNP	C	C	T													cagtgaggtgatgaaccactCcaagtgccatctgcttgaca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:113267508C>T	ENST00000297405.5	-	62	10255	c.10011G>A	c.(10009-10011)tgG>tgA	p.W3337*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3267*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3168*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3297*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3337	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						ATGAACCACTCCAAGTGCCAT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						126	115	119					8																	113267508		2203	4299	6502	CSMD3	SO:0001587	stop_gained	0			-	HGNC	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.10011G>A	8.37:g.113267508C>T	ENSP00000297405:p.Trp3337*	Somatic	0	75	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	Q96PZ3	Nonsense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.W3337*	ENST00000297405.5	37	c.10011	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	52	19.202818	0.99916	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9452	0.92620	0.0:1.0:0.0:0.0	.	.	.	.	X	3297;3337;2607;3168;3267	.	ENSP00000297405:W3337X	W	-	3	0	CSMD3	113336684	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.581000	0.82535	2.712000	0.92718	0.655000	0.94253	TGG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113267508	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	113267508	C	T	113267508	4	4	203	1	0	0	0	0	0	1	0	0	3948	856	30	2	1152	2	CSMD3	8	113267508	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	20250050	113267508	33096514	215	16245	428	2									
CSMD3	114788	genome.wustl.edu	37	chr8	113267509	113267509	+	Missense_Mutation	SNP	C	C	G													agtgaggtgatgaaccactcCaagtgccatctgcttgacat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:113267509C>G	ENST00000297405.5	-	62	10254	c.10010G>C	c.(10009-10011)tGg>tCg	p.W3337S	CSMD3_ENST00000352409.3_Missense_Mutation_p.W3267S|CSMD3_ENST00000455883.2_Missense_Mutation_p.W3168S|CSMD3_ENST00000343508.3_Missense_Mutation_p.W3297S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3337	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TGAACCACTCCAAGTGCCATC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						127	115	119					8																	113267509		2203	4299	6502	CSMD3	SO:0001583	missense	0			-	HGNC	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.10010G>C	8.37:g.113267509C>G	ENSP00000297405:p.Trp3337Ser	Somatic	0	76	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.W3337S	ENST00000297405.5	37	c.10010	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927068	0.73327	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.2	5.2	0.72013	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.95007	0.8384	H	0.99705	4.715	0.80722	D	1	D;D;B	0.89917	0.999;1.0;0.146	D;D;B	0.91635	0.977;0.999;0.099	D	0.97261	0.9904	10	0.87932	D	0	.	18.9452	0.92620	0.0:1.0:0.0:0.0	.	3168;3337;3297	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	3297;3337;2607;3168;3267	ENSP00000345799:W3297S;ENSP00000297405:W3337S;ENSP00000341558:W2607S;ENSP00000412263:W3168S;ENSP00000343124:W3267S	ENSP00000297405:W3337S	W	-	2	0	CSMD3	113336685	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.581000	0.82535	2.712000	0.92718	0.655000	0.94253	TGG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113267509	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	G	G	113267509	C	G	113267509	3	3	203	1	0	0	0	0	1	0	0	0	3948	595	21	4	1153	4	CSMD3	8	113267509	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	113267509	33096513	216	16246	428	2									
CSMD3	114788	genome.wustl.edu	37	chr8	113694742	113694742	+	Missense_Mutation	SNP	C	C	T													tacatgtaattgtttctgttCcctgggttttaataaatcct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:113694742C>T	ENST00000297405.5	-	16	2850	c.2606G>A	c.(2605-2607)gGa>gAa	p.G869E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G869E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G829E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TGTTTCTGTTCCCTGGGTTTT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						136	132	134					8																	113694742		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.2606G>A	8.37:g.113694742C>T	ENSP00000297405:p.Gly869Glu	Somatic	0	76	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	50	18.03	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G869E	ENST00000297405.5	37	c.2606	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964959	0.92855	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90256	0.6953	H	0.96996	3.92	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92986	0.6410	10	0.87932	D	0	.	19.7925	0.96464	0.0:1.0:0.0:0.0	.	765;869;829	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	829;869;209;765;869	ENSP00000345799:G829E;ENSP00000297405:G869E;ENSP00000341558:G209E;ENSP00000412263:G765E;ENSP00000343124:G869E	ENSP00000297405:G869E	G	-	2	0	CSMD3	113763918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.681000	0.91329	0.650000	0.86243	GGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113694742	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113694742	C	T	113694742	3	4	203	1	0	0	0	0	1	0	0	0	3948	855	30	2	8741	2	CSMD3	8	113694742	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	427233	113694742	32669280	217	16247	429	2									
CSMD3	114788	genome.wustl.edu	37	chr8	113694743	113694743	+	Missense_Mutation	SNP	C	C	T													acatgtaattgtttctgttcCctgggttttaataaatcctt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:113694743C>T	ENST00000297405.5	-	16	2849	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G869R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G829R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						GTTTCTGTTCCCTGGGTTTTA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						135	132	133					8																	113694743		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	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.2605G>A	8.37:g.113694743C>T	ENSP00000297405:p.Gly869Arg	Somatic	0	79	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.03	Q96PZ3	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G869R	ENST00000297405.5	37	c.2605	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.078377	0.94000	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.89312	0.6679	H	0.94734	3.575	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91663	0.5344	10	0.87932	D	0	.	19.7925	0.96464	0.0:1.0:0.0:0.0	.	765;869;829	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	829;869;209;765;869	ENSP00000345799:G829R;ENSP00000297405:G869R;ENSP00000341558:G209R;ENSP00000412263:G765R;ENSP00000343124:G869R	ENSP00000297405:G869R	G	-	1	0	CSMD3	113763919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.681000	0.91329	0.650000	0.86243	GGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113694743	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113694743	C	T	113694743	3	4	203	1	0	0	0	0	1	0	0	0	3948	632	22	2	8742	2	CSMD3	8	113694743	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	113694743	32669279	218	16248	429	2									
SLA	6503	genome.wustl.edu	37	chr8	134060111	134060111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgatcatgaaggagcCgacctttgtgtctggcagct	11	11	3	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:134060111C>T	ENST00000338087.5	-	6	1135	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.G123S|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.G123S|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000427060.2_Missense_Mutation_p.G146S|SLA_ENST00000518565.1_5'Flank	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	106	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.G146R(1)|p.G106R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ATGAAGGAGCCGACCTTTGTG	0.577																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000155926						74	73	73					8																	134060111		2203	4300	6503	SLA	SO:0001583	missense	0			-	HGNC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.316G>A	8.37:g.134060111C>T	ENSP00000337548:p.Gly106Ser	Somatic	0	50	0		0.41568620468393	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP							pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.G146S	ENST00000338087.5	37	c.436	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.535530	0.96460	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	D;D;D;D;D	0.99158	-1.86;-1.86;-1.86;-5.5;-5.5	5.6	5.6	0.85130	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.77004	0.978;0.98;0.968;0.989;0.98	D	0.98078	1.0402	10	0.87932	D	0	-50.5173	17.4647	0.87629	0.0:1.0:0.0:0.0	.	123;106;106;106;106	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	S	106;146;123;123;106	ENSP00000337548:G106S;ENSP00000394049:G146S;ENSP00000378759:G123S;ENSP00000428559:G123S;ENSP00000430596:G106S	ENSP00000337548:G106S	G	-	1	0	SLA	134129293	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.095000	0.76952	2.793000	0.96121	0.563000	0.77884	GGC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.577	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	protein_coding	OTTHUMT00000378771.1	C		-		134060111	-1	no_errors	ENST00000427060	ensembl	human	known	74_37	missense	SNP	1.000	T	T	134060111	C	T	134060111	3	4	203	1	0	0	0	0	1	0	0	0	14371	652	23	1	530	1	SLA	8	134060111	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	20365368	134060111	12303911	219	16249											
ADCK5	203054	genome.wustl.edu	37	chr8	145616875	145616875	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcgcacttcccctacgtCgtggtgccccgcgtgcactg	12	17	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:145616875C>T	ENST00000308860.6	+	8	938	c.894C>T	c.(892-894)gtC>gtT	p.V298V	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	298	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCCCTACGTCGTGGTGCCCC	0.697																																																	0								ENSG00000173137						14	15	15					8																	145616875		2120	4194	6314	ADCK5	SO:0001819	synonymous_variant	0			-	HGNC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.894C>T	8.37:g.145616875C>T		Somatic	0	33	0		0.41568620468393	9	43.75	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP							pfam_UbiB_dom,superfamily_Kinase-like_dom	p.V298	ENST00000308860.6	37	c.894	CCDS34965.1	8																																																																																			-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.697	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	protein_coding	OTTHUMT00000382556.2	C	NM_174922	-		145616875	1	no_errors	ENST00000308860	ensembl	human	known	74_37	silent	SNP	0.074	T	T	145616875	C	T	145616875	2	4	203	1	0	0	0	0	0	0	0	1	291	871	31	1		1	ADCK5	8	145616875	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	11556764	145616875	747147	220	16250											
PPP1R16A	84988	genome.wustl.edu	37	chr8	145726915	145726915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgcaggaggacaaccccGaagtggtcaggccgcacaat	13	14	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr8:145726915G>A	ENST00000292539.4	+	11	2133	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000528431.1_5'Flank|GPT_ENST00000394955.2_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.E406K			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	406						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGACAACCCCGAAGTGGTCAG	0.632																																																	0								ENSG00000160972						17	16	17					8																	145726915		2179	4277	6456	PPP1R16A	SO:0001583	missense	0			-	HGNC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1216G>A	8.37:g.145726915G>A	ENSP00000292539:p.Glu406Lys	Somatic	0	90	0		0.41568620468393	83	19.42	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	D3DWM5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E406K	ENST00000292539.4	37	c.1216	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601591	0.28534	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.70399	-0.48;-0.48	4.48	2.67	0.31697	.	1.149250	0.06470	N	0.731033	T	0.56202	0.1969	L	0.44542	1.39	0.09310	N	1	P	0.34587	0.458	B	0.21917	0.037	T	0.29243	-1.0018	10	0.09338	T	0.73	.	8.5492	0.33440	0.1841:0.0:0.8159:0.0	.	406	Q96I34	PP16A_HUMAN	K	406	ENSP00000292539:E406K;ENSP00000391126:E406K	ENSP00000292539:E406K	E	+	1	0	PPP1R16A	145697723	0.196000	0.23350	0.001000	0.08648	0.007000	0.05969	2.380000	0.44327	0.337000	0.23665	0.462000	0.41574	GAA	-	pirsf_Pase-1_reg_su_16AB_euk		0.632	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	protein_coding	OTTHUMT00000382459.1	G	NM_032902	-		145726915	1	no_errors	ENST00000292539	ensembl	human	known	74_37	missense	SNP	0.033	A	A	145726915	G	A	145726915	3	1	203	1	0	0	0	0	1	0	0	0	12370	1059	37	1	1254	1	PPP1R16A	8	145726915	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	110040	145726915	637107	221	16251											
DMRT1	1761	genome.wustl.edu	37	chr9	894113	894113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggggaggtgggaaatcCcctcgggggatcccctgtga	16	10	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:894113C>T	ENST00000382276.3	+	3	889	c.740C>T	c.(739-741)cCc>cTc	p.P247L	DMRT1_ENST00000569227.1_Missense_Mutation_p.P89L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	247					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTGGGAAATCCCCTCGGGGGA	0.537											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000137090						77	78	78					9																	894113		2203	4300	6503	DMRT1	SO:0001583	missense	0			-	HGNC	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.740C>T	9.37:g.894113C>T	ENSP00000371711:p.Pro247Leu	Somatic	0	49	0	591	0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP							pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P247L	ENST00000382276.3	37	c.740	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445074	0.63178	.	.	ENSG00000137090	ENST00000382276	T	0.18016	2.24	5.92	5.92	0.95590	.	0.494722	0.22737	N	0.056260	T	0.19127	0.0459	L	0.43152	1.355	0.20821	N	0.999846	B;B	0.24092	0.049;0.097	B;B	0.24701	0.026;0.055	T	0.10314	-1.0635	10	0.28530	T	0.3	.	18.5462	0.91047	0.0:1.0:0.0:0.0	.	247;247	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	L	247	ENSP00000371711:P247L	ENSP00000371711:P247L	P	+	2	0	DMRT1	884113	0.036000	0.19791	0.203000	0.23512	0.888000	0.51559	3.419000	0.52728	2.820000	0.97059	0.650000	0.86243	CCC	-	NULL		0.537	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	protein_coding	OTTHUMT00000051489.2	C	NM_021951	-		894113	1	no_errors	ENST00000382276	ensembl	human	known	74_37	missense	SNP	0.090	T	T	894113	C	T	894113	3	4	203	1	0	0	0	0	1	0	0	0	4587	623	22	2	750	2	DMRT1	9	894113	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		894113	140319318	222	16252											
GLIS3	169792	genome.wustl.edu	37	chr9	4118551	4118551	+	Silent	SNP	G	G	A													aaatctatcccgatgccatcGgacagcggggacaaggacag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:4118551G>A	ENST00000324333.10	-	3	655	c.462C>T	c.(460-462)tcC>tcT	p.S154S	GLIS3_ENST00000381971.3_Silent_p.S309S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	154	Ser-rich.				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)		CGATGCCATCGGACAGCGGGG	0.612																																																	0								ENSG00000107249						106	92	97					9																	4118551		2203	4300	6503	GLIS3	SO:0001819	synonymous_variant	0			-	HGNC	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.462C>T	9.37:g.4118551G>A		Somatic	0	46	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	B1AL19|Q1PHK5	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S309	ENST00000324333.10	37	c.927	CCDS6451.1	9																																																																																			-	NULL		0.612	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	protein_coding	OTTHUMT00000051559.1	G	NM_152629	-		4118551	-1	no_errors	ENST00000381971	ensembl	human	known	74_37	silent	SNP	0.020	A	A	4118551	G	A	4118551	2	1	203	1	0	0	0	0	0	0	0	1	6449	1103	39	1		1	GLIS3	9	4118551	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3224438	4118551	137094880	223	16253	430	2									
GLIS3	169792	genome.wustl.edu	37	chr9	4118552	4118552	+	Missense_Mutation	SNP	G	G	C													aatctatcccgatgccatcgGacagcggggacaaggacagc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:4118552G>C	ENST00000324333.10	-	3	654	c.461C>G	c.(460-462)tCc>tGc	p.S154C	GLIS3_ENST00000381971.3_Missense_Mutation_p.S309C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	154	Ser-rich.				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)		GATGCCATCGGACAGCGGGGA	0.607																																																	0								ENSG00000107249						106	93	97					9																	4118552		2203	4300	6503	GLIS3	SO:0001583	missense	0			-	HGNC	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.461C>G	9.37:g.4118552G>C	ENSP00000325494:p.Ser154Cys	Somatic	0	46	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	B1AL19|Q1PHK5	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S309C	ENST00000324333.10	37	c.926	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285315	0.59867	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.38401	1.14;1.15	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000092	T	0.67002	0.2847	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.71800	-0.4483	10	0.87932	D	0	.	19.5869	0.95493	0.0:0.0:1.0:0.0	.	309;154	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	C	154;309	ENSP00000325494:S154C;ENSP00000371398:S309C	ENSP00000325494:S154C	S	-	2	0	GLIS3	4108552	1.000000	0.71417	0.581000	0.28614	0.279000	0.26890	9.793000	0.99091	2.633000	0.89246	0.655000	0.94253	TCC	-	NULL		0.607	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	protein_coding	OTTHUMT00000051559.1	G	NM_152629	-		4118552	-1	no_errors	ENST00000381971	ensembl	human	known	74_37	missense	SNP	1.000	C	C	4118552	G	C	4118552	3	2	203	1	0	0	0	0	1	0	0	0	6449	1174	41	4	1898	4	GLIS3	9	4118552	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	4118552	137094879	224	16254	430	2									
KIF24	347240	genome.wustl.edu	37	chr9	34255997	34255997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtggggtgagtgtaggtCcagaatggggtacccccata	15	8	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:34255997C>T	ENST00000402558.2	-	10	3632	c.3608G>A	c.(3607-3609)gGa>gAa	p.G1203E	KIF24_ENST00000345050.2_Missense_Mutation_p.G1069E|KIF24_ENST00000379166.2_Missense_Mutation_p.G1203E|KIF24_ENST00000379174.3_Missense_Mutation_p.G1069E			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1203					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAGTGTAGGTCCAGAATGGGG	0.557																																																	0								ENSG00000186638						114	111	112					9																	34255997		2203	4300	6503	KIF24	SO:0001583	missense	0			-	HGNC	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3608G>A	9.37:g.34255997C>T	ENSP00000384433:p.Gly1203Glu	Somatic	0	46	0		0.41568620468393	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	35	30.00	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G1203E	ENST00000402558.2	37	c.3608	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076739	0.20227	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.71341	-0.35;-0.56;-0.35;-0.56	4.44	0.341	0.15991	.	1.057170	0.07441	N	0.897362	T	0.49729	0.1574	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.26258	-1.0108	9	.	.	.	.	5.0606	0.14555	0.0:0.4612:0.345:0.1938	.	1203	Q5T7B8	KIF24_HUMAN	E	1203;1069;1203;1069	ENSP00000384433:G1203E;ENSP00000368472:G1069E;ENSP00000368464:G1203E;ENSP00000340179:G1069E	.	G	-	2	0	KIF24	34245997	0.002000	0.14202	0.076000	0.20297	0.623000	0.37688	0.096000	0.15147	-0.028000	0.13850	0.655000	0.94253	GGA	-	NULL		0.557	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	protein_coding	OTTHUMT00000052150.5	C		-		34255997	-1	no_errors	ENST00000379166	ensembl	human	known	74_37	missense	SNP	0.010	T	T	34255997	C	T	34255997	3	4	203	1	0	0	0	0	1	0	0	0	8294	855	30	2	510	2	KIF24	9	34255997	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	30137445	34255997	106957434	225	16255											
HINT2	84681	genome.wustl.edu	37	chr9	35813317	35813317	+	Missense_Mutation	SNP	G	G	A													tgctgtctgcttggccacaaGgagtaggtgtcctagaagct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:35813317G>A	ENST00000259667.5	-	4	387	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000396638.2_5'Flank|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	116	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCCACAAGGAGTAGGTGT	0.552											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(185;1694 2122 5473 25431 37228)												0								ENSG00000137133						138	135	136					9																	35813317		2203	4300	6503	HINT2	SO:0001583	missense	0			-	HGNC	AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.346C>T	9.37:g.35813317G>A	ENSP00000259667:p.Leu116Phe	Somatic	0	48	0	858	0.41568620468393	261	17.41	55	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	Q5TCW3	Missense_Mutation	SNP							pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like,prints_Histidine_triad_HIT	p.L116F	ENST00000259667.5	37	c.346	CCDS6594.1	9	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968614	0.53614	.	.	ENSG00000137133	ENST00000259667	T	0.76578	-1.03	4.64	3.74	0.42951	Histidine triad motif (1);Histidine triad-like motif (1);	0.153902	0.41294	D	0.000917	T	0.72993	0.3530	L	0.47078	1.49	0.44619	D	0.997598	P	0.36171	0.541	B	0.43274	0.414	T	0.69989	-0.4995	10	0.40728	T	0.16	-9.9644	7.8897	0.29672	0.0:0.1777:0.6382:0.1841	.	116	Q9BX68	HINT2_HUMAN	F	116	ENSP00000259667:L116F	ENSP00000259667:L116F	L	-	1	0	HINT2	35803317	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.639000	0.37176	1.160000	0.42584	-0.152000	0.13540	CTT	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like		0.552	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HINT2	protein_coding	OTTHUMT00000052390.1	G	NM_032593	-		35813317	-1	no_errors	ENST00000259667	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35813317	G	A	35813317	3	1	203	1	0	0	0	0	1	0	0	0	7114	1000	35	2	153	2	HINT2	9	35813317	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1557320	35813317	105400114	226	16256	431	2									
HINT2	84681	genome.wustl.edu	37	chr9	35813318	35813318	+	Silent	SNP	G	G	C													gctgtctgcttggccacaagGagtaggtgtcctagaagcta							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:35813318G>C	ENST00000259667.5	-	4	386	c.345C>G	c.(343-345)ctC>ctG	p.L115L	HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000396638.2_5'Flank|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	115	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCACAAGGAGTAGGTGTC	0.547											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(185;1694 2122 5473 25431 37228)												0								ENSG00000137133						138	135	136					9																	35813318		2203	4300	6503	HINT2	SO:0001819	synonymous_variant	0			-	HGNC	AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.345C>G	9.37:g.35813318G>C		Somatic	0	47	0	858	0.41568620468393	256	17.95	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	Q5TCW3	Silent	SNP							pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like,prints_Histidine_triad_HIT	p.L115	ENST00000259667.5	37	c.345	CCDS6594.1	9																																																																																			-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like		0.547	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HINT2	protein_coding	OTTHUMT00000052390.1	G	NM_032593	-		35813318	-1	no_errors	ENST00000259667	ensembl	human	known	74_37	silent	SNP	1.000	C	C	35813318	G	C	35813318	2	2	203	1	0	0	0	0	0	0	0	1	7114	1161	41	4		4	HINT2	9	35813318	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	35813318	105400113	227	16257	431	2									
GNE	10020	genome.wustl.edu	37	chr9	36223481	36223481	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaggattgaactgagtatActtcttaactatttcaccct	5	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:36223481A>T	ENST00000539815.1	-	7	1340	c.1300T>A	c.(1300-1302)Tat>Aat	p.Y434N	GNE_ENST00000447283.2_Missense_Mutation_p.Y434N|GNE_ENST00000539208.1_Missense_Mutation_p.Y324N|GNE_ENST00000377902.5_Missense_Mutation_p.Y434N|GNE_ENST00000396594.3_Missense_Mutation_p.Y465N|GNE_ENST00000543356.2_Missense_Mutation_p.Y429N			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	434	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AACTGAGTATACTTCTTAACT	0.368																																					GBM(184;106 2118 20004 35750 50727)												0								ENSG00000159921						75	77	76					9																	36223481		2203	4299	6502	GNE	SO:0001583	missense	0			-	HGNC	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1300T>A	9.37:g.36223481A>T	ENSP00000439155:p.Tyr434Asn	Somatic	0	60	0		0.41568620468393	8	33.33	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP							pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.Y465N	ENST00000539815.1	37	c.1393	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140953	0.56936	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99545	-3.95;-3.95;-3.95;-3.95;-6.13	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97592	0.9211	N	0.14661	0.345	0.80722	D	1	B;B;B;B;P	0.42827	0.032;0.078;0.078;0.096;0.791	B;B;B;B;B	0.38056	0.015;0.023;0.023;0.023;0.264	D	0.98667	1.0686	10	0.46703	T	0.11	-25.9119	14.1732	0.65525	1.0:0.0:0.0:0.0	.	324;393;465;434;434	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	N	434;465;429;434;406;324;434	ENSP00000367134:Y434N;ENSP00000379839:Y465N;ENSP00000439155:Y434N;ENSP00000445117:Y324N;ENSP00000414760:Y434N	ENSP00000340770:Y429N	Y	-	1	0	GNE	36213481	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	2.296000	0.77279	0.482000	0.46254	TAT	-	pfam_ROK		0.368	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	protein_coding	OTTHUMT00000052412.4	A	NM_005476	-		36223481	-1	no_errors	ENST00000396594	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36223481	A	T	36223481	3	4	203	1	0	0	0	0	1	0	0	0	6524	391	14	5	888	5	GNE	9	36223481	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	410163	36223481	104989950	228	16258											
FBXO10	26267	genome.wustl.edu	37	chr9	37537587	37537587	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagggctctggctgccctcGataacaatgtcacaggtctt	11	11	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:37537587G>A	ENST00000432825.2	-	3	987	c.939C>T	c.(937-939)atC>atT	p.I313I	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	313					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGCTGCCCTCGATAACAATGT	0.587																																																	0								ENSG00000147912						31	34	33					9																	37537587		1955	4130	6085	FBXO10	SO:0001819	synonymous_variant	0			-	HGNC	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.939C>T	9.37:g.37537587G>A		Somatic	0	47	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP							pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.I313	ENST00000432825.2	37	c.939	CCDS47966.1	9																																																																																			-	NULL		0.587	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	protein_coding	OTTHUMT00000052472.3	G		-		37537587	-1	no_errors	ENST00000432825	ensembl	human	known	74_37	silent	SNP	0.117	A	A	37537587	G	A	37537587	2	1	203	1	0	0	0	0	0	0	0	1	5728	1048	37	1		1	FBXO10	9	37537587	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1314106	37537587	103675844	229	16259											
TLE1	7088	genome.wustl.edu	37	chr9	84230928	84230928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttggatttcaaagaagtgGaacttgccgaggaggccgtg	14	7	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:84230928G>A	ENST00000376499.3	-	11	1951	c.887C>T	c.(886-888)tCc>tTc	p.S296F	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_Intron|TLE1_ENST00000376484.1_5'Flank	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	296	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CAAAGAAGTGGAACTTGCCGA	0.483																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								ENSG00000196781						86	86	86					9																	84230928		2203	4300	6503	TLE1	SO:0001583	missense	0			-	HGNC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.887C>T	9.37:g.84230928G>A	ENSP00000365682:p.Ser296Phe	Somatic	0	39	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP							pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S296F	ENST00000376499.3	37	c.887	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326086	0.81580	.	.	ENSG00000196781	ENST00000376499	T	0.48836	0.8	5.41	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.61218	1.895	0.80722	D	1	P;B;P;P	0.49862	0.86;0.349;0.929;0.577	P;B;P;B	0.60789	0.879;0.304;0.775;0.304	T	0.68557	-0.5377	10	0.87932	D	0	-8.7108	15.7589	0.78063	0.0:0.0:0.8628:0.1371	.	222;296;323;296	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	F	296	ENSP00000365682:S296F	ENSP00000365682:S296F	S	-	2	0	TLE1	83420748	1.000000	0.71417	0.930000	0.37139	0.660000	0.38997	9.657000	0.98554	1.516000	0.48900	0.655000	0.94253	TCC	-	NULL		0.483	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	protein_coding	OTTHUMT00000055407.1	G	NM_005077	-		84230928	-1	no_errors	ENST00000376499	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84230928	G	A	84230928	3	1	203	1	0	0	0	0	1	0	0	0	15945	1174	41	2	1465	2	TLE1	9	84230928	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	46693341	84230928	56982503	230	16260											
MURC	347273	genome.wustl.edu	37	chr9	103348640	103348640	+	Silent	SNP	C	C	T													ccccatgaaggaagggaaatCcccacccccgagcctttaaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:103348640C>T	ENST00000307584.5	+	2	1067	c.1002C>T	c.(1000-1002)atC>atT	p.I334I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	334					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAAGGGAAATCCCCACCCCCG	0.473																																																	0								ENSG00000170681						45	49	48					9																	103348640		2203	4300	6503	MURC	SO:0001819	synonymous_variant	0			-	HGNC	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.1002C>T	9.37:g.103348640C>T		Somatic	0	81	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B1PRL3|B4DT88	Silent	SNP							NULL	p.I334	ENST00000307584.5	37	c.1002	CCDS35083.1	9																																																																																			-	NULL		0.473	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	protein_coding	OTTHUMT00000053419.2	C	NM_001018116	-		103348640	1	no_errors	ENST00000307584	ensembl	human	known	74_37	silent	SNP	0.000	T	T	103348640	C	T	103348640	2	4	203	1	0	0	0	0	0	0	0	1	9989	845	30	2		2	MURC	9	103348640	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	19117712	103348640	37864791	231	16261	432	2									
MURC	347273	genome.wustl.edu	37	chr9	103348641	103348641	+	Missense_Mutation	SNP	C	C	T													cccatgaaggaagggaaatcCccacccccgagcctttaaaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:103348641C>T	ENST00000307584.5	+	2	1068	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	335					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAGGGAAATCCCCACCCCCGA	0.473																																																	0								ENSG00000170681						45	49	48					9																	103348641		2203	4300	6503	MURC	SO:0001583	missense	0			-	HGNC	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.1003C>T	9.37:g.103348641C>T	ENSP00000418668:p.Pro335Ser	Somatic	0	83	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B1PRL3|B4DT88	Missense_Mutation	SNP							NULL	p.P335S	ENST00000307584.5	37	c.1003	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707626	0.15239	.	.	ENSG00000170681	ENST00000307584	T	0.62941	-0.01	5.28	-3.93	0.04143	.	1.190580	0.05886	N	0.627338	T	0.35682	0.0940	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13764	-1.0497	10	0.12103	T	0.63	0.027	2.3459	0.04271	0.1162:0.3142:0.3429:0.2267	.	335	Q5BKX8	MURC_HUMAN	S	335	ENSP00000418668:P335S	ENSP00000418668:P335S	P	+	1	0	MURC	102388462	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.172000	0.03112	-0.548000	0.06199	0.555000	0.69702	CCC	-	NULL		0.473	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	protein_coding	OTTHUMT00000053419.2	C	NM_001018116	-		103348641	1	no_errors	ENST00000307584	ensembl	human	known	74_37	missense	SNP	0.000	T	T	103348641	C	T	103348641	3	4	203	1	0	0	0	0	1	0	0	0	9989	623	22	2	1009	2	MURC	9	103348641	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	103348641	37864790	232	16262	432	2									
C9orf50	375759	genome.wustl.edu	37	chr9	132381854	132381854	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcacccttcaggggccccaGaataggtgtctgctggagcg	13	12	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:132381854G>A	ENST00000372478.4	-	3	862	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	221										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AGGGGCCCCAGAATAGGTGTC	0.547																																																	0								ENSG00000179058						99	99	99					9																	132381854		2203	4300	6503	C9orf50	SO:0001819	synonymous_variant	0			-	HGNC	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.661C>T	9.37:g.132381854G>A		Somatic	0	82	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	Q2M1I2|Q8NA65	Silent	SNP							NULL	p.L221	ENST00000372478.4	37	c.661	CCDS35159.1	9																																																																																			-	NULL		0.547	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	protein_coding	OTTHUMT00000054593.1	G	NM_199350	-		132381854	-1	no_errors	ENST00000372478	ensembl	human	known	74_37	silent	SNP	0.001	A	A	132381854	G	A	132381854	2	1	203	1	0	0	0	0	0	0	0	1	2489	933	33	2		2	C9orf50	9	132381854	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	29033213	132381854	8831577	233	16263											
ABL1	25	genome.wustl.edu	37	chr9	133750394	133750394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcaaatggactgcacccGagagcctggcctacaacaag	9	14	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:133750394G>A	ENST00000318560.5	+	7	1606	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.?(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)	GACTGCACCCGAGAGCCTGGC	0.542			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000097007						101	80	88					9																	133750394		2203	4300	6503	ABL1	SO:0001583	missense	0			-	HGNC	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.1225G>A	9.37:g.133750394G>A	ENSP00000323315:p.Glu409Lys	Somatic	0	86	0		0.41568620468393	34	30.61	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	52	15.87	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP							pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E428K	ENST00000318560.5	37	c.1282	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.788883	0.96945	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.84370	-1.84;-1.84	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98771	1.0728	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	409;446	P00519;Q59FK4	ABL1_HUMAN;.	K	224;428;409	ENSP00000361423:E428K;ENSP00000323315:E409K	ENSP00000323315:E409K	E	+	1	0	ABL1	132740215	1.000000	0.71417	0.774000	0.31636	0.977000	0.68977	9.858000	0.99539	2.450000	0.82876	0.655000	0.94253	GAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.542	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	protein_coding	OTTHUMT00000054684.1	G	NM_007313	-		133750394	1	no_errors	ENST00000372348	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133750394	G	A	133750394	3	1	203	1	0	0	0	0	1	0	0	0	92	1059	37	1	1391	1	ABL1	9	133750394	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1368540	133750394	7463037	234	16264											
UBAC1	10422	genome.wustl.edu	37	chr9	138831595	138831595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaccccatctccatcaggGaaatgacggcctagaggaca	10	13	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:138831595G>A	ENST00000371756.3	-	8	1104	c.887C>T	c.(886-888)tCc>tTc	p.S296F	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	296	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTCCATCAGGGAAATGACGGC	0.622																																					NSCLC(78;973 1398 27381 29552 42415)												0								ENSG00000130560						234	192	206					9																	138831595		2203	4300	6503	UBAC1	SO:0001583	missense	0			-	HGNC	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.887C>T	9.37:g.138831595G>A	ENSP00000360821:p.Ser296Phe	Somatic	0	29	0		0.41568620468393	113	20.42	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	O75500|Q9UMW7	Missense_Mutation	SNP							pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk	p.S296F	ENST00000371756.3	37	c.887	CCDS35177.1	9	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567490	0.65651	.	.	ENSG00000130560	ENST00000371756	T	0.23754	1.89	5.01	5.01	0.66863	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.051080	0.85682	D	0.000000	T	0.50051	0.1593	M	0.86343	2.81	0.58432	D	0.999998	P	0.44281	0.831	P	0.51657	0.676	T	0.58896	-0.7555	10	0.62326	D	0.03	-23.4188	17.3218	0.87238	0.0:0.0:1.0:0.0	.	296	Q9BSL1	UBAC1_HUMAN	F	296	ENSP00000360821:S296F	ENSP00000360821:S296F	S	-	2	0	UBAC1	137971416	1.000000	0.71417	0.993000	0.49108	0.141000	0.21300	9.033000	0.93741	2.334000	0.79466	0.561000	0.74099	TCC	-	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.622	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAC1	protein_coding	OTTHUMT00000055034.1	G	NM_016172	-		138831595	-1	no_errors	ENST00000371756	ensembl	human	known	74_37	missense	SNP	1.000	A	A	138831595	G	A	138831595	3	1	203	1	0	0	0	0	1	0	0	0	16841	1174	41	2	342	2	UBAC1	9	138831595	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5081201	138831595	2381836	235	16265											
UAP1L1	91373	genome.wustl.edu	37	chr9	139975182	139975182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcgggaggaggaattttCcccactgaagaacgcagagc	14	10	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr9:139975182C>T	ENST00000409858.3	+	7	1252	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	UAP1L1_ENST00000360271.3_Missense_Mutation_p.S284F	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	407							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GAGGAATTTTCCCCACTGAAG	0.667																																																	0								ENSG00000197355						76	80	79					9																	139975182		2203	4298	6501	UAP1L1	SO:0001583	missense	0			-	HGNC	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1220C>T	9.37:g.139975182C>T	ENSP00000386935:p.Ser407Phe	Somatic	0	69	0		0.41568620468393	17	22.73	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP							pfam_UDPGP_trans	p.S407F	ENST00000409858.3	37	c.1220	CCDS7028.2	9	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912197	0.72983	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.20332	2.08;2.08	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74542	-0.3631	10	0.87932	D	0	.	15.6034	0.76642	0.0:1.0:0.0:0.0	.	407;284	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	F	407;284	ENSP00000386935:S407F;ENSP00000353409:S284F	ENSP00000353409:S284F	S	+	2	0	UAP1L1	139095003	1.000000	0.71417	0.999000	0.59377	0.624000	0.37722	5.884000	0.69729	1.914000	0.55421	0.484000	0.47621	TCC	-	pfam_UDPGP_trans		0.667	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	protein_coding	OTTHUMT00000055216.2	C	XM_038063	-		139975182	1	no_errors	ENST00000409858	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139975182	C	T	139975182	3	4	203	1	0	0	0	0	1	0	0	0	16833	855	30	2	1246	2	UAP1L1	9	139975182	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1143587	139975182	1238249	236	16266											
CUBN	8029	genome.wustl.edu	37	chr10	16957152	16957152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaatggtgtttccacaGtatctgcccaagatgtttcc	9	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:16957152G>A	ENST00000377833.4	-	47	7295	c.7230C>T	c.(7228-7230)taC>taT	p.Y2410Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2410	CUB 17. {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)			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)	TGTTTCCACAGTATCTGCCCA	0.438																																																	0								ENSG00000107611						111	99	103					10																	16957152		2203	4300	6503	CUBN	SO:0001819	synonymous_variant	0			-	HGNC	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.7230C>T	10.37:g.16957152G>A		Somatic	0	92	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.Y2410	ENST00000377833.4	37	c.7230	CCDS7113.1	10																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	G	NM_001081	-		16957152	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	silent	SNP	1.000	A	A	16957152	G	A	16957152	2	1	203	1	0	0	0	0	0	0	0	1	4053	1024	36	2		2	CUBN	10	16957152	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		16957152	118577595	237	16267											
CUBN	8029	genome.wustl.edu	37	chr10	17165618	17165618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggacagatacaaaaaaagGaatcatgcagattgaggcag	13	5	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:17165618G>A	ENST00000377833.4	-	5	523	c.458C>T	c.(457-459)tCc>tTc	p.S153F	CUBN_ENST00000377823.1_Missense_Mutation_p.S153F	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	153	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)	ACAAAAAAAGGAATCATGCAG	0.443																																																	0								ENSG00000107611						74	63	67					10																	17165618		2203	4300	6503	CUBN	SO:0001583	missense	0			-	HGNC	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.458C>T	10.37:g.17165618G>A	ENSP00000367064:p.Ser153Phe	Somatic	0	34	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.S153F	ENST00000377833.4	37	c.458	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917183	0.73098	.	.	ENSG00000107611	ENST00000377833;ENST00000433666;ENST00000377823	D;D;D	0.92699	-3.09;-3.09;-3.09	5.36	5.36	0.76844	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.39407	N	0.001374	D	0.96312	0.8797	M	0.88181	2.935	0.45390	D	0.998376	D	0.69078	0.997	D	0.67103	0.949	D	0.96547	0.9405	10	0.56958	D	0.05	.	15.6722	0.77286	0.0:0.1467:0.8533:0.0	.	153	O60494	CUBN_HUMAN	F	153;40;153	ENSP00000367064:S153F;ENSP00000415970:S40F;ENSP00000367054:S153F	ENSP00000367054:S153F	S	-	2	0	CUBN	17205624	1.000000	0.71417	0.530000	0.27963	0.967000	0.64934	6.730000	0.74780	2.513000	0.84729	0.655000	0.94253	TCC	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	G	NM_001081	-		17165618	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	SNP	0.979	A	A	17165618	G	A	17165618	3	1	203	1	0	0	0	0	1	0	0	0	4053	1174	41	2	10665	2	CUBN	10	17165618	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	208466	17165618	118369129	238	16268											
LYZL2	119180	genome.wustl.edu	37	chr10	30900941	30900941	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctcccctcacagtgtttCttccagccttgcctgaggac	7	16	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:30900941C>T	ENST00000375318.2	-	5	584	c.528G>A	c.(526-528)aaG>aaA	p.K176K		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	130					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CACAGTGTTTCTTCCAGCCTT	0.493																																																	0								ENSG00000151033						249	229	236					10																	30900941		2203	4300	6503	LYZL2	SO:0001819	synonymous_variant	0			-	HGNC	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.528G>A	10.37:g.30900941C>T		Somatic	0	111	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	Q6NZ69	Silent	SNP							pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.K176	ENST00000375318.2	37	c.528	CCDS7167.2	10																																																																																			-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys		0.493	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL2	protein_coding	OTTHUMT00000047434.1	C	NM_183058	-		30900941	-1	no_errors	ENST00000375318	ensembl	human	known	74_37	silent	SNP	0.982	T	T	30900941	C	T	30900941	2	4	203	1	0	0	0	0	0	0	0	1	9134	912	32	2		2	LYZL2	10	30900941	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	13735323	30900941	104633806	239	16269											
CCDC7	79741	genome.wustl.edu	37	chr10	32833209	32833209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaagagtttaaaataaaaGaagatttggatcaagtacag	8	2	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:32833209G>A	ENST00000362006.5	+	14	1657	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	CCDC7_ENST00000277657.6_Missense_Mutation_p.E372K|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	372										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TAAAATAAAAGAAGATTTGGA	0.303																																																	0								ENSG00000216937						82	85	84					10																	32833209		2203	4287	6490	CCDC7	SO:0001583	missense	0			-	HGNC	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1114G>A	10.37:g.32833209G>A	ENSP00000355078:p.Glu372Lys	Somatic	0	50	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP							NULL	p.E372K	ENST00000362006.5	37	c.1114	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283173	0.40394	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.55588	1.17;1.17;0.51	2.91	2.91	0.33838	.	.	.	.	.	T	0.27063	0.0663	N	0.14661	0.345	0.80722	D	1	P	0.41947	0.766	B	0.31101	0.124	T	0.06516	-1.0822	9	0.27785	T	0.31	.	9.519	0.39124	0.0:0.0:1.0:0.0	.	372	Q96M83	CCDC7_HUMAN	K	372;372;41	ENSP00000277657:E372K;ENSP00000355078:E372K;ENSP00000401923:E41K	ENSP00000277657:E372K	E	+	1	0	CCDC7	32873215	0.132000	0.22450	0.558000	0.28319	0.289000	0.27227	2.049000	0.41288	1.898000	0.54952	0.650000	0.86243	GAA	-	NULL		0.303	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	protein_coding	OTTHUMT00000047490.1	G	NM_145023	-		32833209	1	no_errors	ENST00000277657	ensembl	human	known	74_37	missense	SNP	0.671	A	A	32833209	G	A	32833209	3	1	203	1	0	0	0	0	1	0	0	0	2844	943	33	2	1164	2	CCDC7	10	32833209	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1932268	32833209	102701538	240	16270											
SYT15	83849	genome.wustl.edu	37	chr10	46965865	46965865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaacttcagcaccctctgGgtgatggtcttgctggacac	12	11	3	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:46965865G>A	ENST00000374321.4	-	5	738	c.672C>T	c.(670-672)acC>acT	p.T224T	SYT15_ENST00000374323.4_Silent_p.T277T|SYT15_ENST00000374325.3_Silent_p.T224T|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.T224T	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	224	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCACCCTCTGGGTGATGGTCT	0.592																																					Ovarian(57;1152 1428 19651 37745)												0								ENSG00000204176						39	42	41					10																	46965865		2121	4238	6359	SYT15	SO:0001819	synonymous_variant	0			-	HGNC	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.672C>T	10.37:g.46965865G>A		Somatic	0	68	0		0.41568620468393	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T277	ENST00000374321.4	37	c.831	CCDS44376.1	10																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.592	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	protein_coding	OTTHUMT00000367008.1	G	NM_031912	-		46965865	-1	no_errors	ENST00000374323	ensembl	human	known	74_37	silent	SNP	0.031	A	A	46965865	G	A	46965865	2	1	203	1	0	0	0	0	0	0	0	1	15478	1219	43	2		2	SYT15	10	46965865	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14132656	46965865	88568882	241	16271											
DDX21	9188	genome.wustl.edu	37	chr10	70719688	70719688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagttgacatgaattctCctaaatccaaaaaggcaaaa	6	8	1	3	rs374486646		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:70719688C>T	ENST00000354185.4	+	2	312	c.214C>T	c.(214-216)Cct>Tct	p.P72S		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	72					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATGAATTCTCCTAAATCCAA	0.358																																																	0								ENSG00000165732						46	50	49					10																	70719688		2203	4300	6503	DDX21	SO:0001583	missense	0			-	HGNC	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.214C>T	10.37:g.70719688C>T	ENSP00000346120:p.Pro72Ser	Somatic	0	58	0		0.41568620468393	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P72S	ENST00000354185.4	37	c.214	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	C	6.271	0.418145	0.11870	.	.	ENSG00000165732	ENST00000354185;ENST00000541642	T	0.23147	1.92	5.76	3.93	0.45458	.	1.914650	0.01979	N	0.044670	T	0.21427	0.0516	N	0.19112	0.55	0.33950	D	0.644369	B	0.12630	0.006	B	0.10450	0.005	T	0.12993	-1.0526	10	0.38643	T	0.18	-22.1039	9.1223	0.36795	0.0:0.8322:0.0:0.1678	.	72	Q9NR30	DDX21_HUMAN	S	72	ENSP00000346120:P72S	ENSP00000346120:P72S	P	+	1	0	DDX21	70389694	0.914000	0.31030	0.984000	0.44739	0.202000	0.24057	1.036000	0.30228	0.908000	0.36671	-0.143000	0.13931	CCT	-	NULL		0.358	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	protein_coding	OTTHUMT00000048374.1	C	NM_004728	-		70719688	1	no_errors	ENST00000354185	ensembl	human	known	74_37	missense	SNP	0.999	T	T	70719688	C	T	70719688	3	4	203	1	0	0	0	0	1	0	0	0	4351	855	30	2	220	2	DDX21	10	70719688	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	23753823	70719688	64815059	242	16272											
LCOR	84458	genome.wustl.edu	37	chr10	98714935	98714935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacagaatcatggacaacaCttaatattatccagggaagc	7	8	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:98714935C>A	ENST00000371097.4	+	8	1104	c.558C>A	c.(556-558)caC>caA	p.H186Q	LCOR_ENST00000371103.3_Missense_Mutation_p.H186Q|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000540664.1_Missense_Mutation_p.H186Q|LCOR_ENST00000356016.3_Missense_Mutation_p.H186Q			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	186					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATGGACAACACTTAATATTAT	0.478																																																	0								ENSG00000196233						67	65	66					10																	98714935		2203	4300	6503	LCOR	SO:0001583	missense	0			-	HGNC		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.558C>A	10.37:g.98714935C>A	ENSP00000360138:p.His186Gln	Somatic	0	51	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP							pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.H186Q	ENST00000371097.4	37	c.558	CCDS7451.1	10	.	.	.	.	.	.	.	.	.	.	C	6.037	0.375172	0.11409	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.34	4.39	0.52855	.	0.333409	0.32416	N	0.006125	T	0.18002	0.0432	N	0.08118	0	0.28624	N	0.90802	P;P	0.42827	0.791;0.689	B;B	0.37508	0.128;0.252	T	0.06023	-1.0850	9	0.18276	T	0.48	-3.6359	13.3432	0.60557	0.0:0.919:0.0:0.081	.	186;186	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	Q	186	.	ENSP00000348298:H186Q	H	+	3	2	LCOR	98704925	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.742000	0.38248	1.296000	0.44742	-0.355000	0.07637	CAC	-	NULL		0.478	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	protein_coding	OTTHUMT00000049628.2	C		-		98714935	1	no_errors	ENST00000356016	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98714935	C	A	98714935	3	1	203	1	0	0	0	0	1	0	0	0	8691	564	20	3	568	3	LCOR	10	98714935	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	27995247	98714935	36819812	243	16273											
ATRNL1	26033	genome.wustl.edu	37	chr10	117059681	117059681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttttgtgcatatctggaAagggctgcagtggcaggctt	16	6	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:117059681A>G	ENST00000355044.3	+	16	2679	c.2553A>G	c.(2551-2553)gaA>gaG	p.E851E	ATRNL1_ENST00000423111.2_5'Flank|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	851	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)		CATATCTGGAAAGGGCTGCAG	0.438																																																	0								ENSG00000107518						93	89	91					10																	117059681		2203	4300	6503	ATRNL1	SO:0001819	synonymous_variant	0			-	HGNC	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.2553A>G	10.37:g.117059681A>G		Somatic	0	78	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E851	ENST00000355044.3	37	c.2553	CCDS7592.1	10																																																																																			-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.438	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	A	XM_049349	-		117059681	1	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	SNP	0.997	G	G	117059681	A	G	117059681	2	3	203	1	0	0	0	0	0	0	0	1	1207	11	1	5		5	ATRNL1	10	117059681	Silent	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	18344746	117059681	18475066	244	16274											
DHX32	55760	genome.wustl.edu	37	chr10	127569269	127569269	+	Missense_Mutation	SNP	G	G	A													aatatggcaatccatcaaagGggttaagttccaaatcctca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:127569269G>A	ENST00000284690.3	-	1	615	c.125C>T	c.(124-126)cCc>cTc	p.P42L	DHX32_ENST00000284688.6_Missense_Mutation_p.P42L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	42						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)				TCCATCAAAGGGGTTAAGTTC	0.403																																																	0								ENSG00000089876						106	107	107					10																	127569269		2203	4300	6503	DHX32	SO:0001583	missense	0			-	HGNC		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.125C>T	10.37:g.127569269G>A	ENSP00000284690:p.Pro42Leu	Somatic	0	90	0		0.41568620468393	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.P42L	ENST00000284690.3	37	c.125	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299968	0.60195	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.16743	2.32;2.32;2.32	4.95	4.95	0.65309	.	0.119914	0.64402	D	0.000019	T	0.22666	0.0547	M	0.71581	2.175	0.39010	D	0.959529	P	0.43094	0.799	B	0.35859	0.212	T	0.24404	-1.0161	10	0.87932	D	0	-22.4599	18.3724	0.90411	0.0:0.0:1.0:0.0	.	42	Q7L7V1	DHX32_HUMAN	L	42	ENSP00000284690:P42L;ENSP00000284688:P42L;ENSP00000406781:P42L	ENSP00000284688:P42L	P	-	2	0	DHX32	127559259	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.170000	0.71920	2.561000	0.86390	0.561000	0.74099	CCC	-	superfamily_P-loop_NTPase		0.403	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	protein_coding	OTTHUMT00000050945.2	G	NM_018180	-		127569269	-1	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127569269	G	A	127569269	3	1	203	1	0	0	0	0	1	0	0	0	4507	1232	43	2	2150	2	DHX32	10	127569269	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	10509588	127569269	7965478	245	16275	433	2									
DHX32	55760	genome.wustl.edu	37	chr10	127569270	127569270	+	Missense_Mutation	SNP	G	G	A													atatggcaatccatcaaaggGgttaagttccaaatcctcac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:127569270G>A	ENST00000284690.3	-	1	614	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	DHX32_ENST00000284688.6_Missense_Mutation_p.P42S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	42						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)				CCATCAAAGGGGTTAAGTTCC	0.398																																																	0								ENSG00000089876						107	108	108					10																	127569270		2203	4300	6503	DHX32	SO:0001583	missense	0			-	HGNC		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.124C>T	10.37:g.127569270G>A	ENSP00000284690:p.Pro42Ser	Somatic	0	88	0		0.41568620468393	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.P42S	ENST00000284690.3	37	c.124	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148457	0.57151	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.16457	2.34;2.34;2.34	4.95	4.95	0.65309	.	0.119914	0.64402	D	0.000019	T	0.16685	0.0401	L	0.49778	1.585	0.27682	N	0.946423	P	0.39282	0.666	B	0.33339	0.162	T	0.17961	-1.0352	10	0.87932	D	0	-22.4599	14.1468	0.65355	0.0:0.0:0.8496:0.1504	.	42	Q7L7V1	DHX32_HUMAN	S	42	ENSP00000284690:P42S;ENSP00000284688:P42S;ENSP00000406781:P42S	ENSP00000284688:P42S	P	-	1	0	DHX32	127559260	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.378000	0.66190	2.561000	0.86390	0.561000	0.74099	CCC	-	superfamily_P-loop_NTPase		0.398	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	protein_coding	OTTHUMT00000050945.2	G	NM_018180	-		127569270	-1	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127569270	G	A	127569270	3	1	203	1	0	0	0	0	1	0	0	0	4507	1232	43	2	2151	2	DHX32	10	127569270	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	127569270	7965477	246	16276	433	2									
PAOX	196743	genome.wustl.edu	37	chr10	135197627	135197627	+	Silent	SNP	G	G	A													ctgatccagctggtgtgggaGgacacgtcgcccctggagga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:135197627G>A	ENST00000278060.5	+	4	1115	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	PAOX_ENST00000357296.3_Silent_p.E344E|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	482					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGGTGTGGGAGGACACGTCGC	0.572																																																	0								ENSG00000148832						118	100	106					10																	135197627		2203	4300	6503	PAOX	SO:0001819	synonymous_variant	0			-	HGNC	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1032G>A	10.37:g.135197627G>A		Somatic	0	54	0		0.41568620468393	19	24	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP							pfam_Amino_oxidase	p.E344	ENST00000278060.5	37	c.1032	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	g	0.796	-0.757222	0.03019	.	.	ENSG00000148832	ENST00000368542	.	.	.	5.19	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0338	0.19694	0.2397:0.2607:0.4996:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAOX	135047617	0.993000	0.37304	0.464000	0.27143	0.194000	0.23727	0.209000	0.17435	-0.157000	0.11059	-1.329000	0.01275	.	-	pfam_Amino_oxidase		0.572	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	protein_coding	OTTHUMT00000051146.2	G	NM_152911	-		135197627	1	no_errors	ENST00000278060	ensembl	human	known	74_37	silent	SNP	0.998	A	A	135197627	G	A	135197627	2	1	203	1	0	0	0	0	0	0	0	1	11425	991	35	2		2	PAOX	10	135197627	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	7628357	135197627	337120	247	16277	434	2									
PAOX	196743	genome.wustl.edu	37	chr10	135197628	135197628	+	Missense_Mutation	SNP	G	G	A													tgatccagctggtgtgggagGacacgtcgcccctggaggat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr10:135197628G>A	ENST00000278060.5	+	4	1116	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAOX_ENST00000357296.3_Missense_Mutation_p.D345N|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	483					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GGTGTGGGAGGACACGTCGCC	0.572																																																	0								ENSG00000148832						120	101	107					10																	135197628		2203	4300	6503	PAOX	SO:0001583	missense	0			-	HGNC	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1033G>A	10.37:g.135197628G>A	ENSP00000278060:p.Asp345Asn	Somatic	0	53	0		0.41568620468393	19	24	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP							pfam_Amino_oxidase	p.D345N	ENST00000278060.5	37	c.1033	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	g	18.59	3.656630	0.67586	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296	D;D	0.93189	-3.18;-3.18	5.19	4.28	0.50868	.	0.197546	0.52532	D	0.000061	D	0.95108	0.8415	M	0.66506	2.035	0.80722	D	1	P;D	0.69078	0.602;0.997	P;D	0.64687	0.469;0.928	D	0.94445	0.7662	10	0.48119	T	0.1	-28.7253	11.2699	0.49133	0.0883:0.0:0.9117:0.0	.	345;345	Q6QHF9-4;Q6QHF9-2	.;.	N	297;345;345	ENSP00000278060:D345N;ENSP00000349847:D345N	ENSP00000278060:D345N	D	+	1	0	PAOX	135047618	1.000000	0.71417	0.447000	0.26932	0.180000	0.23129	6.010000	0.70753	1.407000	0.46875	0.558000	0.71614	GAC	-	pfam_Amino_oxidase		0.572	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	protein_coding	OTTHUMT00000051146.2	G	NM_152911	-		135197628	1	no_errors	ENST00000278060	ensembl	human	known	74_37	missense	SNP	1.000	A	A	135197628	G	A	135197628	3	1	203	1	0	0	0	0	1	0	0	0	11425	1174	41	2	1047	2	PAOX	10	135197628	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	135197628	337119	248	16278	434	2									
MUC5B	727897	genome.wustl.edu	37	chr11	1270733	1270733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaccgtgagcaggtggGgaagttcaagatgtgcttca	15	7	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:1270733G>A	ENST00000529681.1	+	31	12681	c.12623G>A	c.(12622-12624)gGg>gAg	p.G4208E	MUC5B_ENST00000447027.1_Missense_Mutation_p.G4211E|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4208	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)		GAGCAGGTGGGGAAGTTCAAG	0.632																																																	0								ENSG00000117983																																			MUC5B	SO:0001583	missense	0			-	HGNC	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.12623G>A	11.37:g.1270733G>A	ENSP00000436812:p.Gly4208Glu	Somatic	0	96	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	59	11.94	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G4211E	ENST00000529681.1	37	c.12632	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	8.627	0.892820	0.17613	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.37	3.69	3.69	0.42338	.	.	.	.	.	T	0.34542	0.0901	L	0.58583	1.82	0.09310	N	1	P;P	0.52316	0.952;0.952	P;P	0.57371	0.819;0.819	T	0.12502	-1.0545	9	0.87932	D	0	.	15.8489	0.78912	0.0:0.0:1.0:0.0	.	4681;4211	A7Y9J9;E9PBJ0	.;.	E	4208;4211;4152;4058	ENSP00000436812:G4208E;ENSP00000415793:G4211E	ENSP00000343037:G4152E	G	+	2	0	MUC5B	1227309	0.071000	0.21146	0.006000	0.13384	0.004000	0.04260	0.903000	0.28475	1.819000	0.53055	0.393000	0.25936	GGG	-	NULL		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1270733	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.096	A	A	1270733	G	A	1270733	3	1	203	1	0	0	0	0	1	0	0	0	9981	1232	43	2	12754	2	MUC5B	11	1270733	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		1270733	133735783	249	16279											
UBQLN3	50613	genome.wustl.edu	37	chr11	5529535	5529535	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaccttgtccagtactgttCtctgtggggtatctcaggaa	10	11	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:5529535C>T	ENST00000311659.4	-	2	1401	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	418										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTACTGTTCTCTGTGGGGT	0.557																																					Ovarian(72;684 1260 12332 41642 52180)												0								ENSG00000175520						115	116	116					11																	5529535		2201	4297	6498	UBQLN3	SO:0001819	synonymous_variant	0			-	HGNC	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1254G>A	11.37:g.5529535C>T		Somatic	0	112	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	57	31.33	Q9NRE0	Silent	SNP							pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.E418	ENST00000311659.4	37	c.1254	CCDS7758.1	11																																																																																			-	NULL		0.557	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	protein_coding	OTTHUMT00000143348.1	C	NM_017481	-		5529535	-1	no_errors	ENST00000311659	ensembl	human	known	74_37	silent	SNP	0.000	T	T	5529535	C	T	5529535	2	4	203	1	0	0	0	0	0	0	0	1	16905	912	32	2		2	UBQLN3	11	5529535	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4258802	5529535	129476981	250	16280											
CNGA4	1262	genome.wustl.edu	37	chr11	6265537	6265537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgagagtggccaatgccCgaggacctggctgaggctga	15	11	0	3	rs560979109		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:6265537C>T	ENST00000379936.2	+	6	1741	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	542					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P542P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCAATGCCCGAGGACCTGG	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		17683	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)						ENSG00000132259						51	53	53					11																	6265537		2201	4296	6497	CNGA4	SO:0001819	synonymous_variant	0			-	HGNC	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1626C>T	11.37:g.6265537C>T		Somatic	0	59	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95		Silent	SNP							pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P542	ENST00000379936.2	37	c.1626	CCDS31408.1	11																																																																																			-	NULL		0.607	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	protein_coding	OTTHUMT00000383765.2	C	NM_001037329	-		6265537	1	no_errors	ENST00000379936	ensembl	human	known	74_37	silent	SNP	0.065	T	T	6265537	C	T	6265537	2	4	203	1	0	0	0	0	0	0	0	1	3601	639	23	1		1	CNGA4	11	6265537	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	736002	6265537	128740979	251	16281											
ZNF214	7761	genome.wustl.edu	37	chr11	7021487	7021487	+	Missense_Mutation	SNP	C	C	T													aactcttactgaagcccttcCcacattcaggacaagtatag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:7021487C>T	ENST00000278314.4	-	3	1742	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G476E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAAGCCCTTCCCACATTCAGG	0.443																																					Ovarian(22;251 657 736 21522 46864)												0								ENSG00000149050						97	102	100					11																	7021487		2201	4295	6496	ZNF214	SO:0001583	missense	0			-	HGNC	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1427G>A	11.37:g.7021487C>T	ENSP00000278314:p.Gly476Glu	Somatic	0	59	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	B2R8Q1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G476E	ENST00000278314.4	37	c.1427	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971033	0.53614	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.58210	0.35;0.35	4.05	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151699	0.31145	N	0.008166	T	0.44644	0.1303	L	0.46157	1.445	0.29359	N	0.864781	P	0.49447	0.924	B	0.42555	0.391	T	0.48328	-0.9045	10	0.51188	T	0.08	.	9.8562	0.41088	0.0:0.8972:0.0:0.1028	.	476	Q9UL59	ZN214_HUMAN	E	476	ENSP00000278314:G476E;ENSP00000445373:G476E	ENSP00000278314:G476E	G	-	2	0	ZNF214	6978063	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.533000	0.53561	1.284000	0.44531	0.561000	0.74099	GGG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	protein_coding	OTTHUMT00000385349.1	C		-		7021487	-1	no_errors	ENST00000278314	ensembl	human	known	74_37	missense	SNP	0.999	T	T	7021487	C	T	7021487	3	4	203	1	0	0	0	0	1	0	0	0	17777	623	22	2	397	2	ZNF214	11	7021487	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	755950	7021487	127985029	252	16282	435	2									
ZNF214	7761	genome.wustl.edu	37	chr11	7021488	7021488	+	Missense_Mutation	SNP	C	C	T													actcttactgaagcccttccCacattcaggacaagtatagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:7021488C>T	ENST00000278314.4	-	3	1741	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G476R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAGCCCTTCCCACATTCAGGA	0.438																																					Ovarian(22;251 657 736 21522 46864)												0								ENSG00000149050						96	101	100					11																	7021488		2201	4295	6496	ZNF214	SO:0001583	missense	0			-	HGNC	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1426G>A	11.37:g.7021488C>T	ENSP00000278314:p.Gly476Arg	Somatic	0	58	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	B2R8Q1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G476R	ENST00000278314.4	37	c.1426	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519883	0.64634	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.58506	0.33;0.33	4.05	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151699	0.31145	N	0.008166	T	0.52435	0.1734	M	0.70787	2.145	0.31921	N	0.61348	P	0.46142	0.873	B	0.38264	0.269	T	0.67397	-0.5681	10	0.87932	D	0	.	9.9786	0.41800	0.0:0.8982:0.0:0.1018	.	476	Q9UL59	ZN214_HUMAN	R	476	ENSP00000278314:G476R;ENSP00000445373:G476R	ENSP00000278314:G476R	G	-	1	0	ZNF214	6978064	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.885000	0.48570	1.286000	0.44565	0.561000	0.74099	GGG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	protein_coding	OTTHUMT00000385349.1	C		-		7021488	-1	no_errors	ENST00000278314	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7021488	C	T	7021488	3	4	203	1	0	0	0	0	1	0	0	0	17777	594	21	2	398	2	ZNF214	11	7021488	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	7021488	127985028	253	16283	435	2									
SYT9	143425	genome.wustl.edu	37	chr11	7324340	7324340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttggcgtgtctctcttCgtatcttggaaactctgctg	9	11	5	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:7324340C>T	ENST00000318881.6	+	2	453	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SYT9_ENST00000396716.2_Silent_p.F40F	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	72					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGTCTCTCTTCGTATCTTGGA	0.527																																																	0								ENSG00000170743						224	201	209					11																	7324340		2201	4296	6497	SYT9	SO:0001819	synonymous_variant	0			-	HGNC	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.216C>T	11.37:g.7324340C>T		Somatic	0	49	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65		Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.F72	ENST00000318881.6	37	c.216	CCDS7778.1	11																																																																																			-	NULL		0.527	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	protein_coding	OTTHUMT00000384483.1	C	NM_175733	-		7324340	1	no_errors	ENST00000318881	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7324340	C	T	7324340	2	4	203	1	0	0	0	0	0	0	0	1	15488	883	31	1		1	SYT9	11	7324340	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	302852	7324340	127682176	254	16284											
CALCB	797	genome.wustl.edu	37	chr11	15096298	15096298	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttctcccccttcctggctCtcagtatcttggtcctgtac	7	15	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:15096298C>T	ENST00000533448.1	+	2	145	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	CALCB_ENST00000523376.1_Missense_Mutation_p.L23F|CALCB_ENST00000324229.6_Missense_Mutation_p.L12F			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	12					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CTTCCTGGCTCTCAGTATCTT	0.602											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000175868						92	87	88					11																	15096298		2200	4294	6494	CALCB	SO:0001583	missense	0			-	HGNC		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.34C>T	11.37:g.15096298C>T	ENSP00000433490:p.Leu12Phe	Somatic	0	58	0	700	0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP							pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.L12F	ENST00000533448.1	37	c.34	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505903	0.26949	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.23348	1.91;1.91;1.91	5.39	-7.25	0.01470	.	0.801389	0.10911	N	0.620549	T	0.16811	0.0404	L	0.46157	1.445	0.22968	N	0.998492	B	0.11235	0.004	B	0.14578	0.011	T	0.27606	-1.0069	10	0.33940	T	0.23	-7.0976	7.9852	0.30207	0.0:0.3216:0.3404:0.338	.	12	P10092	CALCB_HUMAN	F	23;12;12	ENSP00000428882:L23F;ENSP00000346017:L12F;ENSP00000433490:L12F	ENSP00000346017:L12F	L	+	1	0	CALCB	15052874	0.994000	0.37717	0.869000	0.34112	0.147000	0.21601	0.113000	0.15499	-0.940000	0.03705	-0.136000	0.14681	CTC	-	pfam_Procalcitonin/adrenomedullin		0.602	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	protein_coding	OTTHUMT00000387433.1	C	NM_000728	-		15096298	1	no_errors	ENST00000324229	ensembl	human	known	74_37	missense	SNP	0.972	T	T	15096298	C	T	15096298	3	4	203	1	0	0	0	0	1	0	0	0	2578	913	32	2	36	2	CALCB	11	15096298	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7771958	15096298	119910218	255	16285											
IGSF22	283284	genome.wustl.edu	37	chr11	18735572	18735572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccatgccatccttgtacCatgtcactttgggcagtggt	9	12	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:18735572C>A	ENST00000513874.1	-	14	2061	c.1922G>T	c.(1921-1923)tGg>tTg	p.W641L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	641	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCCTTGTACCATGTCACTTT	0.597																																																	0								ENSG00000179057						117	122	120					11																	18735572		2176	4259	6435	IGSF22	SO:0001583	missense	0			-	HGNC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1922G>T	11.37:g.18735572C>A	ENSP00000421191:p.Trp641Leu	Somatic	0	69	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NNA0|D6RGV7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W641L	ENST00000513874.1	37	c.1922	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876618	0.72180	.	.	ENSG00000179057	ENST00000513874	D	0.96265	-3.96	4.11	2.2	0.27929	.	0.000000	0.32503	U	0.006018	D	0.98807	0.9598	H	0.99834	4.825	0.24000	N	0.996212	D	0.64830	0.994	D	0.76575	0.988	D	0.93987	0.7263	10	0.45353	T	0.12	.	7.7158	0.28704	0.0:0.7948:0.0:0.2052	.	641	D6RGV7	.	L	641	ENSP00000421191:W641L	ENSP00000322422:W641L	W	-	2	0	IGSF22	18692148	1.000000	0.71417	0.945000	0.38365	0.991000	0.79684	4.140000	0.58031	0.384000	0.24942	0.551000	0.68910	TGG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.597	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	C	NM_173588	-		18735572	-1	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18735572	C	A	18735572	3	1	203	1	0	0	0	0	1	0	0	0	7602	595	21	3	2098	3	IGSF22	11	18735572	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3639274	18735572	116270944	256	16286											
PTPN5	84867	genome.wustl.edu	37	chr11	18759455	18759455	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggttttgtaccggttcttCcgcaccagcccagggatgtc	11	12	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:18759455C>T	ENST00000358540.2	-	9	1402	c.972G>A	c.(970-972)cgG>cgA	p.R324R	PTPN5_ENST00000396167.2_Silent_p.R292R|PTPN5_ENST00000496201.2_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Silent_p.R324R|PTPN5_ENST00000396168.1_Silent_p.R300R|PTPN5_ENST00000396170.1_Silent_p.R292R|PTPN5_ENST00000477854.1_Silent_p.R128R	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	324	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						ACCGGTTCTTCCGCACCAGCC	0.582																																																	0								ENSG00000110786						158	128	138					11																	18759455		2199	4293	6492	PTPN5	SO:0001819	synonymous_variant	0			-	HGNC	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.972G>A	11.37:g.18759455C>T		Somatic	0	94	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP							pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R324	ENST00000358540.2	37	c.972	CCDS7845.1	11																																																																																			-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.582	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	protein_coding	OTTHUMT00000259196.2	C	NM_001039970	-		18759455	-1	no_errors	ENST00000358540	ensembl	human	known	74_37	silent	SNP	0.992	T	T	18759455	C	T	18759455	2	4	203	1	0	0	0	0	0	0	0	1	12799	842	30	2		2	PTPN5	11	18759455	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	23883	18759455	116247061	257	16287											
E2F8	79733	genome.wustl.edu	37	chr11	19246951	19246951	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagacaactgcacattGggtgagatgagtcccaggtg	14	9	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:19246951G>T	ENST00000527884.1	-	12	2470	c.2238C>A	c.(2236-2238)ccC>ccA	p.P746P	E2F8_ENST00000529188.1_5'Flank|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.P746P	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	746					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						ACTGCACATTGGGTGAGATGA	0.542																																																	0								ENSG00000129173						124	108	114					11																	19246951		2199	4293	6492	E2F8	SO:0001819	synonymous_variant	0			-	HGNC		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.2238C>A	11.37:g.19246951G>T		Somatic	0	54	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP							pfam_E2F_TDP	p.P746	ENST00000527884.1	37	c.2238	CCDS7849.1	11																																																																																			-	NULL		0.542	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	protein_coding	OTTHUMT00000387830.1	G	NM_024680	-		19246951	-1	no_errors	ENST00000250024	ensembl	human	known	74_37	silent	SNP	0.079	T	T	19246951	G	T	19246951	2	4	203	1	0	0	0	0	0	0	0	1	4875	1335	47	3		3	E2F8	11	19246951	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	487496	19246951	115759565	258	16288											
PSMC3	5702	genome.wustl.edu	37	chr11	47445599	47445599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccgtgcctccctcacctCctggatctgcttgtccaaac	7	18	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:47445599C>T	ENST00000298852.3	-	6	746	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PSMC3_ENST00000602866.1_Missense_Mutation_p.E181K|PSMC3_ENST00000530912.1_Missense_Mutation_p.E155K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	197					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCCCTCACCTCCTGGATCTGC	0.557																																																	0								ENSG00000165916						207	165	180					11																	47445599		2201	4298	6499	PSMC3	SO:0001583	missense	0			-	HGNC	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.589G>A	11.37:g.47445599C>T	ENSP00000298852:p.Glu197Lys	Somatic	0	37	0		0.41568620468393	390	31.35	179	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E197K	ENST00000298852.3	37	c.589	CCDS7935.1	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042803	0.93685	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906	D;D	0.94931	-3.56;-3.56	5.63	5.63	0.86233	.	0.046723	0.85682	D	0.000000	D	0.95551	0.8554	M	0.87617	2.895	0.80722	D	1	P;P	0.46621	0.881;0.794	B;B	0.42319	0.383;0.17	D	0.96242	0.9176	10	0.87932	D	0	-31.0377	19.6809	0.95962	0.0:1.0:0.0:0.0	.	155;197	E9PM69;P17980	.;PRS6A_HUMAN	K	197;155;141;162;162;162	ENSP00000298852:E197K;ENSP00000433097:E155K	ENSP00000298852:E197K	E	-	1	0	PSMC3	47402175	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	GAG	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45		0.557	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMC3	protein_coding	OTTHUMT00000395660.2	C	NM_002804	-		47445599	-1	no_errors	ENST00000298852	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47445599	C	T	47445599	3	4	203	1	0	0	0	0	1	0	0	0	12692	864	30	2	758	2	PSMC3	11	47445599	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	28198648	47445599	87560917	259	16289											
OR4C13	283092	genome.wustl.edu	37	chr11	49974639	49974639	+	Missense_Mutation	SNP	C	C	T													ctgcgtggtcatactgtactCcttaaagacccacagcttag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:49974639C>T	ENST00000555099.1	+	1	697	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATACTGTACTCCTTAAAGACC	0.478																																																	0								ENSG00000258817						182	149	160					11																	49974639		2201	4296	6497	OR4C13	SO:0001583	missense	0			-	HGNC	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.665C>T	11.37:g.49974639C>T	ENSP00000452277:p.Ser222Phe	Somatic	0	71	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S222F	ENST00000555099.1	37	c.665	CCDS31495.1	11	.	.	.	.	.	.	.	.	.	.	.	5.452	0.268448	0.10349	.	.	ENSG00000258817	ENST00000555099	T	0.00091	8.74	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000304	T	0.00300	0.0009	M	0.81682	2.555	0.09310	N	1	B	0.31383	0.321	B	0.43728	0.429	T	0.06303	-1.0834	9	.	.	.	.	11.1932	0.48698	0.0:1.0:0.0:0.0	.	222	Q8NGP0	OR4CD_HUMAN	F	222	ENSP00000452277:S222F	.	S	+	2	0	OR4C13	49931215	0.002000	0.14202	0.024000	0.17045	0.167000	0.22549	1.523000	0.35932	1.524000	0.49035	0.186000	0.17326	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	protein_coding	OTTHUMT00000391103.1	C	NM_001001955	-		49974639	1	no_errors	ENST00000555099	ensembl	human	known	74_37	missense	SNP	0.096	T	T	49974639	C	T	49974639	3	4	203	1	0	0	0	0	1	0	0	0	11049	855	30	2	667	2	OR4C13	11	49974639	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2529040	49974639	85031877	260	16290	436	2									
OR4C13	283092	genome.wustl.edu	37	chr11	49974640	49974640	+	Silent	SNP	C	C	T													tgcgtggtcatactgtactcCttaaagacccacagcttaga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:49974640C>T	ENST00000555099.1	+	1	698	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S222S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACTGTACTCCTTAAAGACCC	0.478																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000258817						180	148	159					11																	49974640		2201	4296	6497	OR4C13	SO:0001819	synonymous_variant	0			-	HGNC	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.666C>T	11.37:g.49974640C>T		Somatic	0	69	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S222	ENST00000555099.1	37	c.666	CCDS31495.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	protein_coding	OTTHUMT00000391103.1	C	NM_001001955	-		49974640	1	no_errors	ENST00000555099	ensembl	human	known	74_37	silent	SNP	0.040	T	T	49974640	C	T	49974640	2	4	203	1	0	0	0	0	0	0	0	1	11049	668	24	2		2	OR4C13	11	49974640	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	49974640	85031876	261	16291	436	2									
OR5M1	390168	genome.wustl.edu	37	chr11	56380933	56380933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggtcgtctgtcagtcCcaagagaatgaattctgtca	10	10	4	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:56380933C>T	ENST00000526538.1	-	1	45	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	16						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTGTCAGTCCCAAGAGAATG	0.448																																																	0								ENSG00000255012						161	149	152					11																	56380933		1908	4121	6029	OR5M1	SO:0001583	missense	0			-	HGNC	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.46G>A	11.37:g.56380933C>T	ENSP00000435416:p.Gly16Arg	Somatic	0	113	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	48	21.31	Q6IF60|Q96RB6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G16R	ENST00000526538.1	37	c.46	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249091	0.59103	.	.	ENSG00000255012	ENST00000526538	T	0.00659	5.94	3.71	3.71	0.42584	.	0.000000	0.38778	N	0.001568	T	0.04092	0.0114	M	0.93939	3.475	0.39667	D	0.970698	P	0.45594	0.862	P	0.50192	0.634	T	0.06972	-1.0797	10	0.87932	D	0	-19.9813	14.3562	0.66740	0.0:1.0:0.0:0.0	.	16	Q8NGP8	OR5M1_HUMAN	R	16	ENSP00000435416:G16R	ENSP00000435416:G16R	G	-	1	0	OR5M1	56137509	0.879000	0.30193	0.996000	0.52242	0.682000	0.39822	4.291000	0.59025	1.949000	0.56562	0.280000	0.19369	GGA	-	NULL		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	C	NM_001004740	-		56380933	-1	no_errors	ENST00000526538	ensembl	human	known	74_37	missense	SNP	0.996	T	T	56380933	C	T	56380933	3	4	203	1	0	0	0	0	1	0	0	0	11174	632	22	2	905	2	OR5M1	11	56380933	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6406293	56380933	78625583	262	16292											
MPEG1	219972	genome.wustl.edu	37	chr11	58978337	58978337	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaggtgataacaacagccaGaatggtggtgacccccactg	11	11	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:58978337G>A	ENST00000361050.3	-	1	2087	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	668						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ACAACAGCCAGAATGGTGGTG	0.557																																																	0								ENSG00000197629						119	125	123					11																	58978337		2046	4178	6224	MPEG1	SO:0001819	synonymous_variant	0			-	HGNC	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2002C>T	11.37:g.58978337G>A		Somatic	0	33	0		0.41568620468393	48	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	Q2M1T6|Q8TEF8	Silent	SNP							pfam_MACPF,smart_MACPF	p.L668	ENST00000361050.3	37	c.2002	CCDS41650.1	11																																																																																			-	NULL		0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	protein_coding	OTTHUMT00000370027.1	G	NM_001039396	-		58978337	-1	no_errors	ENST00000361050	ensembl	human	known	74_37	silent	SNP	0.081	A	A	58978337	G	A	58978337	2	1	203	1	0	0	0	0	0	0	0	1	9725	933	33	2		2	MPEG1	11	58978337	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2597404	58978337	76028179	263	16293											
SLC22A24	283238	genome.wustl.edu	37	chr11	62849038	62849038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcttgtacctcaatatGgtggggacgagctcgttgtg	13	8	2	0	rs567410787		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:62849038G>A	ENST00000417740.1	-	8	1827	c.1386C>T	c.(1384-1386)acC>acT	p.T462T		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						ACCTCAATATGGTGGGGACGA	0.418													G|||	0	0	0	0	5008	,	,		2806	0		0	False		,,,				2504	0																0								ENSG00000197658						129	106	113					11																	62849038		692	1591	2283	SLC22A24	SO:0001819	synonymous_variant	0			-	HGNC		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1386C>T	11.37:g.62849038G>A		Somatic	0	68	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24		Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T462	ENST00000417740.1	37	c.1386		11																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.418	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	protein_coding	OTTHUMT00000383747.1	G	NM_173586	-		62849038	-1	no_errors	ENST00000417740	ensembl	human	putative	74_37	silent	SNP	0.004	A	A	62849038	G	A	62849038	2	1	203	1	0	0	0	0	0	0	0	1	14461	1335	47	2		2	SLC22A24	11	62849038	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3870701	62849038	72157478	264	16294											
SLC22A10	387775	genome.wustl.edu	37	chr11	63057946	63057946	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcttcttcacctgaatggGactatccacagcacaagtga	8	12	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:63057946G>A	ENST00000332793.6	+	1	311	c.309G>A	c.(307-309)ggG>ggA	p.G103G	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.G51G	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	103						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ACCTGAATGGGACTATCCACA	0.498																																																	0								ENSG00000184999						96	101	99					11																	63057946		2201	4298	6499	SLC22A10	SO:0001819	synonymous_variant	0			-	HGNC	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.309G>A	11.37:g.63057946G>A		Somatic	0	64	0		0.41568620468393	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	Q68CJ0	Silent	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G103	ENST00000332793.6	37	c.309	CCDS41661.1	11																																																																																			-	NULL		0.498	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	protein_coding	OTTHUMT00000382622.3	G	NM_001039752	-		63057946	1	no_errors	ENST00000332793	ensembl	human	known	74_37	silent	SNP	0.000	A	A	63057946	G	A	63057946	2	1	203	1	0	0	0	0	0	0	0	1	14449	1161	41	2		2	SLC22A10	11	63057946	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	208908	63057946	71948570	265	16295											
SLC22A10	387775	genome.wustl.edu	37	chr11	63064849	63064849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgctgccttcgctcCcaccttccctgtttactgtg	7	18	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:63064849C>T	ENST00000332793.6	+	3	583	c.581C>T	c.(580-582)cCc>cTc	p.P194L	SLC22A10_ENST00000544661.1_Missense_Mutation_p.P39L|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	194						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GCCTTCGCTCCCACCTTCCCT	0.433																																																	0								ENSG00000184999						173	173	173					11																	63064849		2075	4240	6315	SLC22A10	SO:0001583	missense	0			-	HGNC	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.581C>T	11.37:g.63064849C>T	ENSP00000327569:p.Pro194Leu	Somatic	0	49	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	Q68CJ0	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P194L	ENST00000332793.6	37	c.581	CCDS41661.1	11	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928663	0.52759	.	.	ENSG00000184999	ENST00000544661;ENST00000332793	T;T	0.61158	0.13;0.13	3.26	2.23	0.28157	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.213097	0.39759	U	0.001263	T	0.81987	0.4939	H	0.97783	4.075	0.41389	D	0.987608	D	0.89917	1.0	D	0.91635	0.999	D	0.85754	0.1345	10	0.87932	D	0	.	9.5176	0.39115	0.2104:0.7896:0.0:0.0	.	194	Q63ZE4	S22AA_HUMAN	L	39;194	ENSP00000445667:P39L;ENSP00000327569:P194L	ENSP00000327569:P194L	P	+	2	0	SLC22A10	62821425	0.022000	0.18835	0.101000	0.21167	0.008000	0.06430	1.920000	0.40025	1.882000	0.54519	0.447000	0.29281	CCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.433	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	protein_coding	OTTHUMT00000382622.3	C	NM_001039752	-		63064849	1	no_errors	ENST00000332793	ensembl	human	known	74_37	missense	SNP	0.909	T	T	63064849	C	T	63064849	3	4	203	1	0	0	0	0	1	0	0	0	14449	623	22	2	591	2	SLC22A10	11	63064849	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6903	63064849	71941667	266	16296											
OTUB1	55611	genome.wustl.edu	37	chr11	63764973	63764973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagggctccgagcccaaggtCtaccttctctaccggcctgg	12	15	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:63764973C>T	ENST00000538426.1	+	7	815	c.771C>T	c.(769-771)gtC>gtT	p.V257V	OTUB1_ENST00000543988.1_Silent_p.V227V|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000422031.2_Silent_p.V294V|OTUB1_ENST00000541478.1_Silent_p.V156V|OTUB1_ENST00000543004.1_Silent_p.V266V|OTUB1_ENST00000428192.2_Silent_p.V257V	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	257	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						AGCCCAAGGTCTACCTTCTCT	0.642																																																	0								ENSG00000167770						100	97	98					11																	63764973		2201	4297	6498	OTUB1	SO:0001819	synonymous_variant	0			-	HGNC	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.771C>T	11.37:g.63764973C>T		Somatic	0	35	0		0.41568620468393	332	25.23	112	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Silent	SNP							pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.V294	ENST00000538426.1	37	c.882	CCDS8055.1	11																																																																																			-	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU		0.642	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUB1	protein_coding	OTTHUMT00000396277.1	C	NM_017670	-		63764973	1	no_errors	ENST00000422031	ensembl	human	known	74_37	silent	SNP	1.000	T	T	63764973	C	T	63764973	2	4	203	1	0	0	0	0	0	0	0	1	11313	900	32	2		2	OTUB1	11	63764973	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	700124	63764973	71241543	267	16297											
CABP2	51475	genome.wustl.edu	37	chr11	67287292	67287292	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgaccagaccgtccccattGaggtccacgtcctggaggat	11	14	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:67287292G>A	ENST00000294288.4	-	6	678	c.609C>T	c.(607-609)ctC>ctT	p.L203L	CABP2_ENST00000353903.5_Silent_p.L146L	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	203	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CGTCCCCATTGAGGTCCACGT	0.652																																																	0								ENSG00000167791						93	90	91					11																	67287292		2200	4295	6495	CABP2	SO:0001819	synonymous_variant	0			-	HGNC	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"EF-hand domain containing"	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.609C>T	11.37:g.67287292G>A		Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00		Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.L203	ENST00000294288.4	37	c.609	CCDS8170.1	11																																																																																			-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom		0.652	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	protein_coding	OTTHUMT00000397516.1	G		-		67287292	-1	no_errors	ENST00000294288	ensembl	human	known	74_37	silent	SNP	1.000	A	A	67287292	G	A	67287292	2	1	203	1	0	0	0	0	0	0	0	1	2534	1277	45	2		2	CABP2	11	67287292	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3522319	67287292	67719224	268	16298											
MTL5	9633	genome.wustl.edu	37	chr11	68478401	68478401	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaggtaatggctgccTtccaaacctccagtctgcat	11	12	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:68478401T>A	ENST00000255087.5	-	9	1458	c.1275A>T	c.(1273-1275)gaA>gaT	p.E425D		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	425					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			AATGGCTGCCTTCCAAACCTC	0.423																																																	0								ENSG00000132749						130	114	120					11																	68478401		2200	4294	6494	MTL5	SO:0001583	missense	0			-	HGNC	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1275A>T	11.37:g.68478401T>A	ENSP00000255087:p.Glu425Asp	Somatic	0	76	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP							pfam_CRC,superfamily_Thionin	p.E425D	ENST00000255087.5	37	c.1275	CCDS8184.1	11	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184254	0.38609	.	.	ENSG00000132749	ENST00000255087	T	0.32988	1.43	5.02	-1.12	0.09808	.	0.434976	0.21958	N	0.066640	T	0.23572	0.0570	M	0.65975	2.015	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.07809	-1.0753	10	0.20519	T	0.43	-16.9072	4.6648	0.12660	0.0:0.2281:0.3295:0.4424	.	425	Q9Y4I5	MTL5_HUMAN	D	425	ENSP00000255087:E425D	ENSP00000255087:E425D	E	-	3	2	MTL5	68234977	0.981000	0.34729	0.019000	0.16419	0.090000	0.18270	0.280000	0.18790	-0.477000	0.06832	0.454000	0.30748	GAA	-	NULL		0.423	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	protein_coding	OTTHUMT00000396844.1	T	NM_004923	-		68478401	-1	no_errors	ENST00000255087	ensembl	human	known	74_37	missense	SNP	0.981	A	A	68478401	T	A	68478401	3	1	203	1	0	0	0	0	1	0	0	0	9938	1606	56	5	259	5	MTL5	11	68478401	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	1191109	68478401	66528115	269	16299											
SHANK2	22941	genome.wustl.edu	37	chr11	70319210	70319210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggcttatttgagattgGctgttgcagtatcgaggggg	15	4	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:70319210G>A	ENST00000423696.2	-	16	4213	c.4177C>T	c.(4177-4179)Cca>Tca	p.P1393S	SHANK2_ENST00000449833.2_Missense_Mutation_p.P1177S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1176S|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1773S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1393					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTGAGATTGGCTGTTGCAGT	0.498																																																	0								ENSG00000162105						116	116	116					11																	70319210		2200	4294	6494	SHANK2	SO:0001583	missense	0			-	HGNC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4177C>T	11.37:g.70319210G>A	ENSP00000394536:p.Pro1393Ser	Somatic	0	85	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1773S	ENST00000423696.2	37	c.5317		11	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774293	0.69992	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.49720	2.16;2.17;2.89;0.77;2.26;2.29	5.91	5.91	0.95273	.	0.488053	0.25450	N	0.030587	T	0.57154	0.2034	L	0.50333	1.59	0.80722	D	1	B;D;P	0.57571	0.397;0.98;0.708	B;P;B	0.54664	0.057;0.758;0.227	T	0.42783	-0.9431	10	0.15952	T	0.53	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1393;1772;1177	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	1177;1176;1051;1773;1393;1411;1396	ENSP00000399423:P1177S;ENSP00000386491:P1176S;ENSP00000402944:P1051S;ENSP00000345193:P1773S;ENSP00000394536:P1393S;ENSP00000294018:P1396S	ENSP00000294018:P1396S	P	-	1	0	SHANK2	69996858	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.811000	0.69187	2.799000	0.96334	0.650000	0.86243	CCA	-	NULL		0.498	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	protein_coding		G	NM_012309	-		70319210	-1	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70319210	G	A	70319210	3	1	203	1	0	0	0	0	1	0	0	0	14273	1203	42	2	239	2	SHANK2	11	70319210	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1840809	70319210	64687306	270	16300											
CREBZF	58487	genome.wustl.edu	37	chr11	85375532	85375532	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctccgccagacgaggagaGaggccccggcgagctaagcc	15	15	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:85375532G>A	ENST00000527447.1	-	1	614	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	CREBZF_ENST00000398294.2_Missense_Mutation_p.L48F|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	130					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GACGAGGAGAGAGGCCCCGGC	0.657																																					NSCLC(172;674 2044 9050 18334 41735)												0								ENSG00000137504						34	40	38					11																	85375532		1934	4142	6076	CREBZF	SO:0001583	missense	0			-	HGNC	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.388C>T	11.37:g.85375532G>A	ENSP00000433459:p.Leu130Phe	Somatic	0	68	0		0.41568620468393	22	21.43	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP							pfam_bZIP	p.L130F	ENST00000527447.1	37	c.388	CCDS41697.1	11	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758015	0.89843	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.41	4.41	0.53225	.	0.000000	0.32987	N	0.005402	T	0.54951	0.1890	N	0.19112	0.55	0.35076	D	0.762984	D	0.71674	0.998	D	0.75484	0.986	T	0.62011	-0.6944	8	.	.	.	-8.8899	12.3863	0.55335	0.0:0.0:1.0:0.0	.	130	Q9NS37	ZHANG_HUMAN	F	48;130	.	.	L	-	1	0	CREBZF	85053180	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.585000	0.53943	2.289000	0.77006	0.561000	0.74099	CTC	-	NULL		0.657	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	protein_coding	OTTHUMT00000390191.2	G	NM_001039618	-		85375532	-1	no_errors	ENST00000525639	ensembl	human	known	74_37	missense	SNP	0.998	A	A	85375532	G	A	85375532	3	1	203	1	0	0	0	0	1	0	0	0	3865	942	33	2	680	2	CREBZF	11	85375532	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	15056322	85375532	49630984	271	16301											
FAT3	120114	genome.wustl.edu	37	chr11	92523348	92523348	+	Silent	SNP	C	C	T													tatactgccgagaggctggaCcatgaggcccaggacaagca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:92523348C>T	ENST00000298047.6	+	7	4592	c.4575C>T	c.(4573-4575)gaC>gaT	p.D1525D	FAT3_ENST00000409404.2_Silent_p.D1525D|FAT3_ENST00000525166.1_Silent_p.D1375D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1525	Cadherin 14. {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)				AGAGGCTGGACCATGAGGCCC	0.493										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						144	140	141					11																	92523348		2017	4192	6209	FAT3	SO:0001819	synonymous_variant	0			-	HGNC	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.4575C>T	11.37:g.92523348C>T		Somatic	0	17	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B5MDB0|Q96AU6	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D1525	ENST00000298047.6	37	c.4575		11																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92523348	1	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	SNP	1.000	T	T	92523348	C	T	92523348	2	4	203	1	0	0	0	0	0	0	0	1	5693	506	18	2		2	FAT3	11	92523348	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7147816	92523348	42483168	272	16302	437	2									
FAT3	120114	genome.wustl.edu	37	chr11	92523349	92523349	+	Missense_Mutation	SNP	C	C	G													atactgccgagaggctggacCatgaggcccaggacaagcac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:92523349C>G	ENST00000298047.6	+	7	4593	c.4576C>G	c.(4576-4578)Cat>Gat	p.H1526D	FAT3_ENST00000409404.2_Missense_Mutation_p.H1526D|FAT3_ENST00000525166.1_Missense_Mutation_p.H1376D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1526	Cadherin 14. {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)				GAGGCTGGACCATGAGGCCCA	0.498										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						144	139	141					11																	92523349		2015	4191	6206	FAT3	SO:0001583	missense	0			-	HGNC	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.4576C>G	11.37:g.92523349C>G	ENSP00000298047:p.His1526Asp	Somatic	0	17	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B5MDB0|Q96AU6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H1526D	ENST00000298047.6	37	c.4576		11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045869	0.93685	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01725	4.67;4.67;4.67	6.17	6.17	0.99709	.	.	.	.	.	T	0.11196	0.0273	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00595	-1.1653	9	0.38643	T	0.18	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1526	Q8TDW7-3	.	D	1526;1526;1376	ENSP00000298047:H1526D;ENSP00000387040:H1526D;ENSP00000432586:H1376D	ENSP00000298047:H1526D	H	+	1	0	FAT3	92162997	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.037000	0.70956	2.941000	0.99782	0.655000	0.94253	CAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		C	NM_001008781	-		92523349	1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	G	G	92523349	C	G	92523349	3	3	203	1	0	0	0	0	1	0	0	0	5693	594	21	4	4602	4	FAT3	11	92523349	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	92523349	42483167	273	16303	437	2									
MMP27	64066	genome.wustl.edu	37	chr11	102567514	102567514	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttgatcattggagtgagaGagccccagtgcatgaccaaa	12	8	1	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:102567514G>A	ENST00000260229.4	-	5	763	c.672C>T	c.(670-672)ctC>ctT	p.L224L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	224					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TGGAGTGAGAGAGCCCCAGTG	0.418																																																	0								ENSG00000137675						88	76	80					11																	102567514		2203	4299	6502	MMP27	SO:0001819	synonymous_variant	0			-	HGNC	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.672C>T	11.37:g.102567514G>A		Somatic	0	51	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q6UWK6	Silent	SNP							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.L224	ENST00000260229.4	37	c.672	CCDS8319.1	11																																																																																			-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A		0.418	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	protein_coding	OTTHUMT00000398128.1	G	NM_022122	-		102567514	-1	no_errors	ENST00000260229	ensembl	human	known	74_37	silent	SNP	0.985	A	A	102567514	G	A	102567514	2	1	203	1	0	0	0	0	0	0	0	1	9666	929	33	2		2	MMP27	11	102567514	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	10044165	102567514	32439002	274	16304											
CASP4	837	genome.wustl.edu	37	chr11	104825485	104825485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcttaccttttttattgGgggatatttggtctatgtta	9	5	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:104825485G>A	ENST00000444739.2	-	2	1161	c.251C>T	c.(250-252)cCc>cTc	p.P84L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.P28L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	84	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TTTTTTATTGGGGGATATTTG	0.393																																																	0								ENSG00000196954						110	113	112					11																	104825485		2201	4299	6500	CASP4	SO:0001583	missense	0			-	HGNC	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.251C>T	11.37:g.104825485G>A	ENSP00000388566:p.Pro84Leu	Somatic	0	45	0		0.41568620468393	76	1.27	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	A2NHL8|A2NHM0	Missense_Mutation	SNP							pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.P84L	ENST00000444739.2	37	c.251	CCDS8327.1	11	.	.	.	.	.	.	.	.	.	.	G	6.191	0.403493	0.11754	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.12361	2.69;4.49;2.69	3.6	0.0656	0.14357	DEATH-like (2);Caspase Recruitment (1);	0.683220	0.15095	N	0.280852	T	0.08670	0.0215	L	0.36672	1.1	0.09310	N	1	B;B;B	0.27351	0.176;0.013;0.029	B;B;B	0.27500	0.08;0.006;0.029	T	0.36504	-0.9745	10	0.19590	T	0.45	.	5.4086	0.16336	0.1148:0.0:0.4845:0.4006	.	84;84;84	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	L	84;28;37;84	ENSP00000388566:P84L;ENSP00000376857:P28L;ENSP00000401673:P84L	ENSP00000347741:P37L	P	-	2	0	CASP4	104330695	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.124000	0.10595	0.239000	0.21243	0.655000	0.94253	CCC	-	superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta		0.393	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP4	protein_coding	OTTHUMT00000387751.1	G	NM_001225	-		104825485	-1	no_errors	ENST00000444739	ensembl	human	known	74_37	missense	SNP	0.000	A	A	104825485	G	A	104825485	3	1	203	1	0	0	0	0	1	0	0	0	2675	1232	43	2	910	2	CASP4	11	104825485	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2257971	104825485	30181031	275	16305											
EXPH5	23086	genome.wustl.edu	37	chr11	108381888	108381888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaatggctctaccactcCctgtacactcccaagaactt	6	14	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:108381888C>T	ENST00000265843.4	-	6	4456	c.4346G>A	c.(4345-4347)gGg>gAg	p.G1449E	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.G1442E|EXPH5_ENST00000428840.1_Missense_Mutation_p.G1373E|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1261E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1449					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTACCACTCCCTGTACACTC	0.458																																																	0								ENSG00000110723						84	77	79					11																	108381888		2201	4298	6499	EXPH5	SO:0001583	missense	0			-	HGNC		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4346G>A	11.37:g.108381888C>T	ENSP00000265843:p.Gly1449Glu	Somatic	0	44	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.G1449E	ENST00000265843.4	37	c.4346	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984982	0.53934	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03094	4.27;4.2;4.05;4.27;4.11	5.73	-1.43	0.08884	.	0.889159	0.09667	N	0.771653	T	0.02929	0.0087	L	0.60455	1.87	0.09310	N	1	B	0.27700	0.186	B	0.25759	0.063	T	0.47394	-0.9121	10	0.02654	T	1	0.1292	1.6895	0.02849	0.1159:0.3762:0.2268:0.281	.	1449	Q8NEV8	EXPH5_HUMAN	E	1449;1373;1261;1442;1373	ENSP00000265843:G1449E;ENSP00000391966:G1373E;ENSP00000411390:G1261E;ENSP00000432546:G1442E;ENSP00000432683:G1373E	ENSP00000265843:G1449E	G	-	2	0	EXPH5	107887098	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	-0.550000	0.06034	0.071000	0.16664	0.591000	0.81541	GGG	-	NULL		0.458	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	protein_coding	OTTHUMT00000390279.1	C	NM_015065	-		108381888	-1	no_errors	ENST00000265843	ensembl	human	known	74_37	missense	SNP	0.000	T	T	108381888	C	T	108381888	3	4	203	1	0	0	0	0	1	0	0	0	5324	623	22	2	1627	2	EXPH5	11	108381888	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3556403	108381888	26624628	276	16306											
TECTA	7007	genome.wustl.edu	37	chr11	121016456	121016456	+	Missense_Mutation	SNP	G	G	A													gtctgtgtggccgctacaacGgcaaccctgatgatgacctg					rs200218954		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:121016456G>A	ENST00000392793.1	+	12	4007	c.3736G>A	c.(3736-3738)Ggc>Agc	p.G1246S	TECTA_ENST00000264037.2_Missense_Mutation_p.G1246S|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1246	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCGCTACAACGGCAACCCTGA	0.542													G|||	1	0.000199681	0	0	5008	,	,		22553	0.001		0	False		,,,				2504	0																0								ENSG00000109927						151	123	132					11																	121016456		2203	4299	6502	TECTA	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3736G>A	11.37:g.121016456G>A	ENSP00000376543:p.Gly1246Ser	Somatic	0	48	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51		Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.G1246S	ENST00000392793.1	37	c.3736	CCDS8434.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.33	2.802809	0.50315	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.63913	-0.07;-0.07	5.76	2.37	0.29283	von Willebrand factor, type D domain (3);	0.277684	0.31370	N	0.007773	T	0.52869	0.1761	L	0.53561	1.675	0.35851	D	0.826744	B	0.27316	0.175	B	0.19148	0.024	T	0.54931	-0.8219	10	0.46703	T	0.11	.	10.4479	0.44505	0.2416:0.0:0.7584:0.0	.	1246	O75443	TECTA_HUMAN	S	1246	ENSP00000376543:G1246S;ENSP00000264037:G1246S	ENSP00000264037:G1246S	G	+	1	0	TECTA	120521666	0.992000	0.36948	0.805000	0.32314	0.925000	0.55904	2.123000	0.41996	0.180000	0.19960	-0.216000	0.12614	GGC	-	pfam_VWF_type-D,smart_VWF_type-D		0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	G	NM_005422	rs200218954		121016456	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	0.996	A	A	121016456	G	A	121016456	3	1	203	1	0	0	0	0	1	0	0	0	15754	1116	39	1	3778	1	TECTA	11	121016456	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	12634568	121016456	13990060	277	16307	438	2									
TECTA	7007	genome.wustl.edu	37	chr11	121016457	121016457	+	Missense_Mutation	SNP	G	G	A													tctgtgtggccgctacaacgGcaaccctgatgatgacctgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr11:121016457G>A	ENST00000392793.1	+	12	4008	c.3737G>A	c.(3736-3738)gGc>gAc	p.G1246D	TECTA_ENST00000264037.2_Missense_Mutation_p.G1246D|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1246	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCTACAACGGCAACCCTGAT	0.547																																																	0								ENSG00000109927						152	123	133					11																	121016457		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3737G>A	11.37:g.121016457G>A	ENSP00000376543:p.Gly1246Asp	Somatic	0	48	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51		Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.G1246D	ENST00000392793.1	37	c.3737	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052780	0.55218	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.63096	-0.02;-0.02	5.76	5.76	0.90799	von Willebrand factor, type D domain (3);	0.277684	0.31370	N	0.007773	T	0.58793	0.2147	L	0.56396	1.775	0.39703	D	0.971215	B	0.10296	0.003	B	0.12156	0.007	T	0.55010	-0.8207	10	0.33141	T	0.24	.	14.1598	0.65438	0.0716:0.0:0.9284:0.0	.	1246	O75443	TECTA_HUMAN	D	1246	ENSP00000376543:G1246D;ENSP00000264037:G1246D	ENSP00000264037:G1246D	G	+	2	0	TECTA	120521667	1.000000	0.71417	0.930000	0.37139	0.929000	0.56500	4.264000	0.58859	2.721000	0.93114	0.591000	0.81541	GGC	-	pfam_VWF_type-D,smart_VWF_type-D		0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	G	NM_005422	-		121016457	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121016457	G	A	121016457	3	1	203	1	0	0	0	0	1	0	0	0	15754	1203	42	2	3779	2	TECTA	11	121016457	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	121016457	13990059	278	16308	438	2									
USP5	8078	genome.wustl.edu	37	chr12	6973341	6973341	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctcccgggaccaggccttGaaagcgctgcgggccacggt	14	14	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:6973341G>A	ENST00000229268.8	+	17	2278	c.2226G>A	c.(2224-2226)ttG>ttA	p.L742L	USP5_ENST00000389231.5_Silent_p.L719L|TPI1_ENST00000229270.4_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	742	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCAGGCCTTGAAAGCGCTGC	0.647																																																	0								ENSG00000111667						52	55	54					12																	6973341		2203	4300	6503	USP5	SO:0001819	synonymous_variant	0			-	HGNC	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2226G>A	12.37:g.6973341G>A		Somatic	0	49	0		0.41568620468393	173	13.5	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	D3DUS7|D3DUS8|Q96J22	Silent	SNP							pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L742	ENST00000229268.8	37	c.2226	CCDS41743.1	12																																																																																			-	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67		0.647	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	protein_coding	OTTHUMT00000402982.1	G		-		6973341	1	no_errors	ENST00000229268	ensembl	human	known	74_37	silent	SNP	1.000	A	A	6973341	G	A	6973341	2	1	203	1	0	0	0	0	0	0	0	1	17088	1281	45	2		2	USP5	12	6973341	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		6973341	126878554	279	16309											
ACSM4	341392	genome.wustl.edu	37	chr12	7459150	7459150	+	Missense_Mutation	SNP	C	C	T													caggggagagaccagctaacCcagccctgtggtgggtgaat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:7459150C>T	ENST00000399422.4	+	2	271	c.223C>T	c.(223-225)Cca>Tca	p.P75S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	75					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCAGCTAACCCAGCCCTGTG	0.532																																																	0								ENSG00000215009						36	45	42					12																	7459150		2054	4242	6296	ACSM4	SO:0001583	missense	0			-	HGNC		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.223C>T	12.37:g.7459150C>T	ENSP00000382349:p.Pro75Ser	Somatic	0	106	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	A8MTI6	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.P75S	ENST00000399422.4	37	c.223	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723826	0.68959	.	.	ENSG00000215009	ENST00000399422	T	0.12361	2.69	5.13	5.13	0.70059	.	0.000000	0.38959	U	0.001514	T	0.21761	0.0524	L	0.60067	1.865	0.43110	D	0.994811	D	0.55800	0.973	P	0.48552	0.581	T	0.01262	-1.1402	10	0.28530	T	0.3	-21.8173	16.4313	0.83844	0.0:1.0:0.0:0.0	.	75	P0C7M7	ACSM4_HUMAN	S	75	ENSP00000382349:P75S	ENSP00000382349:P75S	P	+	1	0	ACSM4	7350417	0.997000	0.39634	0.997000	0.53966	0.695000	0.40330	3.743000	0.55104	2.557000	0.86248	0.655000	0.94253	CCA	-	NULL		0.532	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	protein_coding	OTTHUMT00000337866.2	C	NM_001080454	-		7459150	1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	SNP	1.000	T	T	7459150	C	T	7459150	3	4	203	1	0	0	0	0	1	0	0	0	186	623	22	2	229	2	ACSM4	12	7459150	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	485809	7459150	126392745	280	16310	439	2									
ACSM4	341392	genome.wustl.edu	37	chr12	7459151	7459151	+	Missense_Mutation	SNP	C	C	T													aggggagagaccagctaaccCagccctgtggtgggtgaatg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:7459151C>T	ENST00000399422.4	+	2	272	c.224C>T	c.(223-225)cCa>cTa	p.P75L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	75					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CCAGCTAACCCAGCCCTGTGG	0.532																																																	0								ENSG00000215009						37	45	42					12																	7459151		2055	4242	6297	ACSM4	SO:0001583	missense	0			-	HGNC		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.224C>T	12.37:g.7459151C>T	ENSP00000382349:p.Pro75Leu	Somatic	0	106	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	A8MTI6	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.P75L	ENST00000399422.4	37	c.224	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429342	0.43122	.	.	ENSG00000215009	ENST00000399422	T	0.11277	2.79	5.13	5.13	0.70059	.	0.000000	0.38959	U	0.001514	T	0.17619	0.0423	N	0.25144	0.715	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.07809	-1.0753	10	0.09084	T	0.74	-21.8173	16.4313	0.83844	0.0:1.0:0.0:0.0	.	75	P0C7M7	ACSM4_HUMAN	L	75	ENSP00000382349:P75L	ENSP00000382349:P75L	P	+	2	0	ACSM4	7350418	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.398000	0.73244	2.557000	0.86248	0.655000	0.94253	CCA	-	NULL		0.532	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	protein_coding	OTTHUMT00000337866.2	C	NM_001080454	-		7459151	1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	SNP	1.000	T	T	7459151	C	T	7459151	3	4	203	1	0	0	0	0	1	0	0	0	186	594	21	2	230	2	ACSM4	12	7459151	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	7459151	126392744	281	16311	439	2									
ATF7IP	55729	genome.wustl.edu	37	chr12	14609520	14609520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaacccaccagtatcacCaggaaaaactgtaaatgatg	6	12	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:14609520C>A	ENST00000540793.1	+	6	2176	c.2021C>A	c.(2020-2022)cCa>cAa	p.P674Q	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P673Q|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P674Q|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P673Q|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P682Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	674	Interaction with SETDB1.				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						CCAGTATCACCAGGAAAAACT	0.338																																																	0								ENSG00000171681						109	98	101					12																	14609520		2203	4300	6503	ATF7IP	SO:0001583	missense	0			-	HGNC	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.2021C>A	12.37:g.14609520C>A	ENSP00000444589:p.Pro674Gln	Somatic	0	58	0		0.41568620468393	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP							superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P674Q	ENST00000540793.1	37	c.2021	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596047	0.66332	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.26373	1.85;1.74;1.85;1.85;1.85	5.75	5.75	0.90469	.	0.085896	0.51477	D	0.000090	T	0.50257	0.1605	L	0.59436	1.845	0.47341	D	0.999395	D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.998;1.0;1.0	D;D;P;D;D;D	0.81914	0.974;0.995;0.899;0.962;0.992;0.995	T	0.43572	-0.9383	10	0.87932	D	0	-14.0076	19.2924	0.94105	0.0:1.0:0.0:0.0	.	682;673;673;674;673;285	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	Q	674;673;673;682;674	ENSP00000261168:P674Q;ENSP00000443179:P673Q;ENSP00000445955:P673Q;ENSP00000440440:P682Q;ENSP00000444589:P674Q	ENSP00000261168:P674Q	P	+	2	0	ATF7IP	14500787	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	4.686000	0.61700	2.878000	0.98634	0.650000	0.86243	CCA	-	NULL		0.338	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	protein_coding	OTTHUMT00000401400.1	C	NM_018179	-		14609520	1	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	SNP	1.000	A	A	14609520	C	A	14609520	3	1	203	1	0	0	0	0	1	0	0	0	1087	594	21	3	2043	3	ATF7IP	12	14609520	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7150369	14609520	119242375	282	16312											
GUCY2C	2984	genome.wustl.edu	37	chr12	14825853	14825853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaccatggtactgtcaAcatccccccagtcatccaag	7	15	2	0	rs147742759		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:14825853A>G	ENST00000261170.3	-	9	1260	c.1124T>C	c.(1123-1125)gTt>gCt	p.V375A	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	375					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)	GGTACTGTCAACATCCCCCCA	0.483													A|||	1	0.000199681	0	0	5008	,	,		16901	0.001		0	False		,,,				2504	0																0								ENSG00000070019	A	ALA/VAL	0,4406		0,0,2203	195	163	174		1124	5	0.2	12	dbSNP_134	174	4,8596	3.7+/-12.6	0,4,4296	no	missense	GUCY2C	NM_004963.3	64	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	benign	375/1074	14825853	4,13002	2203	4300	6503	GUCY2C	SO:0001583	missense	0			GMAF=0	HGNC		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.1124T>C	12.37:g.14825853A>G	ENSP00000261170:p.Val375Ala	Somatic	0	57	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	B2RMY6	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.V375A	ENST00000261170.3	37	c.1124	CCDS8664.1	12	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	8.160	0.789274	0.16258	0.0	4.65E-4	ENSG00000070019	ENST00000261170	T	0.73469	-0.75	4.99	4.99	0.66335	Extracellular ligand-binding receptor (1);	0.193487	0.42294	D	0.000736	T	0.61035	0.2315	N	0.22421	0.69	0.09310	N	0.99999	B	0.25719	0.132	B	0.27262	0.078	T	0.54549	-0.8277	10	0.39692	T	0.17	.	11.3817	0.49761	1.0:0.0:0.0:0.0	.	375	P25092	GUC2C_HUMAN	A	375	ENSP00000261170:V375A	ENSP00000261170:V375A	V	-	2	0	GUCY2C	14717120	0.998000	0.40836	0.166000	0.22797	0.017000	0.09413	4.534000	0.60622	2.005000	0.58758	0.533000	0.62120	GTT	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.483	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	protein_coding	OTTHUMT00000400835.1	A		rs147742759		14825853	-1	no_errors	ENST00000261170	ensembl	human	known	74_37	missense	SNP	0.459	G	G	14825853	A	G	14825853	3	3	203	1	0	0	0	0	1	0	0	0	6898	43	2	5	2173	5	GUCY2C	12	14825853	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	216333	14825853	119026042	283	16313											
SLCO1A2	6579	genome.wustl.edu	37	chr12	21445200	21445200	+	Missense_Mutation	SNP	C	C	G													gcatcaaggaacagtcaggtCctttgtcgcacagcccaaga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:21445200C>G	ENST00000307378.6	-	13	2228	c.1508G>C	c.(1507-1509)gGa>gCa	p.G503A	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G503A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G501A|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G371A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G371A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	503					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACAGTCAGGTCCTTTGTCGCA	0.403																																																	0								ENSG00000084453						82	80	81					12																	21445200		2203	4300	6503	SLCO1A2	SO:0001583	missense	0			-	HGNC		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1508G>C	12.37:g.21445200C>G	ENSP00000305974:p.Gly503Ala	Somatic	0	82	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	Q9UGP7|Q9UL38	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.G503A	ENST00000307378.6	37	c.1508	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409889	0.42715	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.482210	0.23821	N	0.044231	T	0.41627	0.1167	M	0.64170	1.965	0.23708	N	0.997057	P;B	0.48162	0.906;0.051	P;B	0.50440	0.641;0.098	T	0.31916	-0.9926	10	0.09338	T	0.73	.	12.273	0.54716	0.0:0.9195:0.0:0.0805	.	501;503	P46721-2;P46721	.;SO1A2_HUMAN	A	503;503;371;371;501	ENSP00000305974:G503A;ENSP00000393973:G503A;ENSP00000394854:G371A;ENSP00000439401:G371A;ENSP00000375088:G501A	ENSP00000305974:G503A	G	-	2	0	SLCO1A2	21336467	0.367000	0.25023	0.946000	0.38457	0.578000	0.36192	0.750000	0.26334	2.646000	0.89796	0.563000	0.77884	GGA	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	C	NM_021094	-		21445200	-1	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	SNP	0.428	G	G	21445200	C	G	21445200	3	3	203	1	0	0	0	0	1	0	0	0	14730	855	30	4	520	4	SLCO1A2	12	21445200	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6619347	21445200	112406695	284	16314	440	2									
SLCO1A2	6579	genome.wustl.edu	37	chr12	21445201	21445201	+	Missense_Mutation	SNP	C	C	T													catcaaggaacagtcaggtcCtttgtcgcacagcccaagaa					rs373572811		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:21445201C>T	ENST00000307378.6	-	13	2227	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G503R|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G501R|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G371R|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G371R	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	503					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CAGTCAGGTCCTTTGTCGCAC	0.403																																																	0								ENSG00000084453	C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	81	80	81		1507,1507	4.1	1	12		81	0,8600		0,0,4300	no	missense,missense	SLCO1A2	NM_134431.3,NM_021094.3	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	503/671,503/671	21445201	1,13005	2203	4300	6503	SLCO1A2	SO:0001583	missense	0			-	HGNC		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1507G>A	12.37:g.21445201C>T	ENSP00000305974:p.Gly503Arg	Somatic	0	83	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	53	19.70	Q9UGP7|Q9UL38	Missense_Mutation	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.G503R	ENST00000307378.6	37	c.1507	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267301	0.23136	2.27E-4	0.0	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.09	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.482210	0.23821	N	0.044231	T	0.35480	0.0933	M	0.64170	1.965	0.24791	N	0.992752	B;B	0.29301	0.241;0.004	B;B	0.34242	0.178;0.02	T	0.15752	-1.0426	10	0.30854	T	0.27	.	9.5238	0.39152	0.0:0.7636:0.1487:0.0877	.	501;503	P46721-2;P46721	.;SO1A2_HUMAN	R	503;503;371;371;501	ENSP00000305974:G503R;ENSP00000393973:G503R;ENSP00000394854:G371R;ENSP00000439401:G371R;ENSP00000375088:G501R	ENSP00000305974:G503R	G	-	1	0	SLCO1A2	21336468	0.790000	0.28787	0.984000	0.44739	0.629000	0.37895	1.163000	0.31798	2.646000	0.89796	0.563000	0.77884	GGA	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	C	NM_021094	-		21445201	-1	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	SNP	0.442	T	T	21445201	C	T	21445201	3	4	203	1	0	0	0	0	1	0	0	0	14730	690	24	2	521	2	SLCO1A2	12	21445201	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	21445201	112406694	285	16315	440	2									
ALG10	84920	genome.wustl.edu	37	chr12	34179346	34179346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttttcctttcctcatctCctgtctcctagcaaaattaa	2	12	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:34179346C>T	ENST00000266483.2	+	3	1237	c.918C>T	c.(916-918)ctC>ctT	p.L306L	AC046130.1_ENST00000401300.2_RNA|RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	306					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTCCTCATCTCCTGTCTCCTA	0.343																																																	0								ENSG00000139133						126	134	131					12																	34179346		2203	4296	6499	ALG10	SO:0001819	synonymous_variant	0			-	HGNC	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.918C>T	12.37:g.34179346C>T		Somatic	0	62	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96	Q6NS98|Q96DU0|Q96SM6	Silent	SNP							pfam_Alg10,pirsf_Alg10	p.L306	ENST00000266483.2	37	c.918	CCDS41769.1	12																																																																																			-	pfam_Alg10,pirsf_Alg10		0.343	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	protein_coding	OTTHUMT00000403309.1	C	NM_032834	-		34179346	1	no_errors	ENST00000266483	ensembl	human	known	74_37	silent	SNP	0.938	T	T	34179346	C	T	34179346	2	4	203	1	0	0	0	0	0	0	0	1	511	842	30	2		2	ALG10	12	34179346	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	12734145	34179346	99672549	286	16316											
PDZRN4	29951	genome.wustl.edu	37	chr12	41961623	41961623	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagatgaaaggaatgaattCttagaggagttaaacttgga	12	2	1	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:41961623C>T	ENST00000402685.2	+	9	1514	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	PDZRN4_ENST00000298919.7_Silent_p.F242F|PDZRN4_ENST00000539469.2_Silent_p.F244F	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	502							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAATGAATTCTTAGAGGAGT	0.393																																																	0								ENSG00000165966						83	79	80					12																	41961623		2203	4300	6503	PDZRN4	SO:0001819	synonymous_variant	0			-	HGNC	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1506C>T	12.37:g.41961623C>T		Somatic	0	114	0		0.41568620468393	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	51	28.17	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP							pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.F502	ENST00000402685.2	37	c.1506	CCDS53777.1	12																																																																																			-	NULL		0.393	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	protein_coding	OTTHUMT00000403701.1	C	NM_013377	-		41961623	1	no_errors	ENST00000402685	ensembl	human	known	74_37	silent	SNP	1.000	T	T	41961623	C	T	41961623	2	4	203	1	0	0	0	0	0	0	0	1	11712	912	32	2		2	PDZRN4	12	41961623	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7782277	41961623	91890272	287	16317											
SLC38A1	81539	genome.wustl.edu	37	chr12	46623406	46623406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacttcttctactttcacGatcagaaataaacttgctgt	6	9	4	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:46623406G>A	ENST00000398637.5	-	4	833	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.R47C|SLC38A1_ENST00000546893.1_Missense_Mutation_p.R47C|SLC38A1_ENST00000549049.1_Missense_Mutation_p.R47C|SLC38A1_ENST00000552197.1_Missense_Mutation_p.R47C	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	47					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTACTTTCACGATCAGAAATA	0.284																																																	0								ENSG00000111371						109	104	105					12																	46623406		1818	4078	5896	SLC38A1	SO:0001583	missense	0			-	HGNC	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.139C>T	12.37:g.46623406G>A	ENSP00000381634:p.Arg47Cys	Somatic	0	42	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.R47C	ENST00000398637.5	37	c.139	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998963	0.74818	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.07567	3.34;3.34;3.34;3.34;3.18	5.32	4.38	0.52667	.	0.208899	0.33916	N	0.004429	T	0.08492	0.0211	N	0.08118	0	0.49915	D	0.99983	B;P;D	0.64830	0.103;0.584;0.994	B;B;P	0.50440	0.006;0.059;0.641	T	0.37820	-0.9689	10	0.56958	D	0.05	-12.4356	16.6068	0.84832	0.0:0.1297:0.8703:0.0	.	47;47;47	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	C	47	ENSP00000449607:R47C;ENSP00000398142:R47C;ENSP00000381634:R47C;ENSP00000447853:R47C;ENSP00000449756:R47C	ENSP00000381634:R47C	R	-	1	0	SLC38A1	44909673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.622000	0.54217	2.661000	0.90470	0.650000	0.86243	CGT	-	NULL		0.284	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	protein_coding	OTTHUMT00000404218.2	G		-		46623406	-1	no_errors	ENST00000398637	ensembl	human	known	74_37	missense	SNP	0.998	A	A	46623406	G	A	46623406	3	1	203	1	0	0	0	0	1	0	0	0	14609	1058	37	1	1380	1	SLC38A1	12	46623406	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4661783	46623406	87228489	288	16318											
PFKM	5213	genome.wustl.edu	37	chr12	48535750	48535750	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaagcagtttgatgagctCtgcatcccatttgtggtcat	11	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:48535750C>T	ENST00000312352.7	+	17	1593	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	PFKM_ENST00000547587.1_Silent_p.L518L|PFKM_ENST00000359794.5_Silent_p.L518L|PFKM_ENST00000551804.1_Silent_p.L487L|PFKM_ENST00000340802.6_Silent_p.L589L|PFKM_ENST00000395233.2_Silent_p.L487L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	518	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTGATGAGCTCTGCATCCCAT	0.537																																																	0								ENSG00000152556						209	164	179					12																	48535750		2203	4300	6503	PFKM	SO:0001819	synonymous_variant	0			-	HGNC	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1554C>T	12.37:g.48535750C>T		Somatic	0	57	0		0.41568620468393	54	43.75	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.08	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP							pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.L518	ENST00000312352.7	37	c.1554	CCDS8760.1	12																																																																																			-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.537	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	protein_coding	OTTHUMT00000406490.1	C	NM_000289	-		48535750	1	no_errors	ENST00000312352	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48535750	C	T	48535750	2	4	203	1	0	0	0	0	0	0	0	1	11767	900	32	2		2	PFKM	12	48535750	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1912344	48535750	85316145	289	16319											
NCKAP5L	57701	genome.wustl.edu	37	chr12	50190165	50190165	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggggaggggctgccgtctGagccactgttccgacagggg	19	10	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:50190165G>A	ENST00000335999.6	-	8	1679	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	489	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGCCGTCTGAGCCACTGTT	0.692																																																	0								ENSG00000167566						11	13	13					12																	50190165		1958	4149	6107	NCKAP5L	SO:0001583	missense	0			-	HGNC	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1478C>T	12.37:g.50190165G>A	ENSP00000337998:p.Ser493Leu	Somatic	0	26	0		0.41568620468393	12	29.41	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP							NULL	p.S493L	ENST00000335999.6	37	c.1478	CCDS41781.2	12	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469711	0.43839	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.46063	0.88	4.73	4.73	0.59995	.	0.000000	0.38272	N	0.001755	T	0.27313	0.0670	N	0.19112	0.55	0.33213	D	0.553631	B;B	0.33103	0.397;0.397	B;B	0.37047	0.24;0.24	T	0.29852	-0.9998	10	0.11794	T	0.64	-13.9629	10.7924	0.46440	0.0:0.0:0.6949:0.3051	.	489;489	E2QRB5;Q9HCH0-2	.;.	L	493;489	ENSP00000337998:S493L	ENSP00000337998:S493L	S	-	2	0	NCKAP5L	48476432	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	3.414000	0.52693	2.374000	0.81015	0.561000	0.74099	TCA	-	NULL		0.692	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	protein_coding	OTTHUMT00000346884.2	G	XM_035497	-		50190165	-1	no_errors	ENST00000335999	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50190165	G	A	50190165	3	1	203	1	0	0	0	0	1	0	0	0	10226	1294	45	2	2550	2	NCKAP5L	12	50190165	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1654415	50190165	83661730	290	16320											
ACVR1B	91	genome.wustl.edu	37	chr12	52369177	52369177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacctgcatccccaaagtgGagctggtccctgccgggaag	13	14	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:52369177G>A	ENST00000257963.4	+	2	297	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ACVR1B_ENST00000542485.1_Missense_Mutation_p.E22K|ACVR1B_ENST00000415850.2_Missense_Mutation_p.E74K|ACVR1B_ENST00000541224.1_Missense_Mutation_p.E74K|ACVR1B_ENST00000426655.2_Missense_Mutation_p.E74K	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	74					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CCCCAAAGTGGAGCTGGTCCC	0.577																																																	0								ENSG00000135503						112	89	97					12																	52369177		2203	4300	6503	ACVR1B	SO:0001583	missense	0			-	HGNC		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.220G>A	12.37:g.52369177G>A	ENSP00000257963:p.Glu74Lys	Somatic	0	33	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E74K	ENST00000257963.4	37	c.220	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119990	0.56613	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	D;D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53;-4.53	4.88	4.88	0.63580	TGF-beta receptor/activin receptor, type I/II (1);	0.438446	0.25839	N	0.027967	D	0.93048	0.7787	N	0.16201	0.385	0.30282	N	0.791178	B;B;B;B	0.13145	0.002;0.001;0.002;0.007	B;B;B;B	0.15052	0.008;0.008;0.012;0.011	D	0.88846	0.3316	10	0.49607	T	0.09	.	10.2452	0.43336	0.1259:0.0:0.8741:0.0	.	74;74;74;74	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	K	74;74;74;22;74;22	ENSP00000257963:E74K;ENSP00000442656:E74K;ENSP00000390477:E74K;ENSP00000443218:E22K;ENSP00000397550:E74K;ENSP00000442885:E22K	ENSP00000257963:E74K	E	+	1	0	ACVR1B	50655444	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	1.490000	0.35573	2.643000	0.89663	0.650000	0.86243	GAG	-	pfam_Activin_rcpt		0.577	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	protein_coding	OTTHUMT00000397000.1	G	NM_020328	-		52369177	1	no_errors	ENST00000257963	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52369177	G	A	52369177	3	1	203	1	0	0	0	0	1	0	0	0	221	1175	41	2	226	2	ACVR1B	12	52369177	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2179012	52369177	81482718	291	16321											
ESPL1	9700	genome.wustl.edu	37	chr12	53680600	53680600	+	Silent	SNP	C	C	T													aggcaagctggccctcatgtCcccttcacggtgtttgagga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:53680600C>T	ENST00000257934.4	+	18	4171	c.4080C>T	c.(4078-4080)gtC>gtT	p.V1360V	ESPL1_ENST00000552462.1_Silent_p.V1360V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1360					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCCTCATGTCCCCTTCACGG	0.582																																					Colon(53;1069 1201 2587 5382)												0								ENSG00000135476						73	53	60					12																	53680600		2203	4300	6503	ESPL1	SO:0001819	synonymous_variant	0			-	HGNC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4080C>T	12.37:g.53680600C>T		Somatic	0	51	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62		Silent	SNP							pfam_Peptidase_C50,superfamily_DsrEFH-like	p.V1360	ENST00000257934.4	37	c.4080	CCDS8852.1	12																																																																																			-	NULL		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	C	NM_012291	-		53680600	1	no_errors	ENST00000257934	ensembl	human	known	74_37	silent	SNP	0.855	T	T	53680600	C	T	53680600	2	4	203	1	0	0	0	0	0	0	0	1	5255	842	30	2		2	ESPL1	12	53680600	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1311423	53680600	80171295	292	16322	441	2									
ESPL1	9700	genome.wustl.edu	37	chr12	53680601	53680601	+	Missense_Mutation	SNP	C	C	T													ggcaagctggccctcatgtcCccttcacggtgtttgaggaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:53680601C>T	ENST00000257934.4	+	18	4172	c.4081C>T	c.(4081-4083)Ccc>Tcc	p.P1361S	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1361S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1361					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCTCATGTCCCCTTCACGGT	0.582																																					Colon(53;1069 1201 2587 5382)												0								ENSG00000135476						73	53	60					12																	53680601		2203	4300	6503	ESPL1	SO:0001583	missense	0			-	HGNC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4081C>T	12.37:g.53680601C>T	ENSP00000257934:p.Pro1361Ser	Somatic	0	50	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80		Missense_Mutation	SNP							pfam_Peptidase_C50,superfamily_DsrEFH-like	p.P1361S	ENST00000257934.4	37	c.4081	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381317	0.42207	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12361	2.69;2.69	5.19	4.28	0.50868	.	0.122077	0.56097	D	0.000022	T	0.13586	0.0329	M	0.71581	2.175	0.34442	D	0.699688	P	0.36144	0.539	B	0.28011	0.085	T	0.10776	-1.0615	10	0.31617	T	0.26	.	9.7788	0.40637	0.0:0.9049:0.0:0.0951	.	1361	Q14674	ESPL1_HUMAN	S	1361;1036;1361	ENSP00000257934:P1361S;ENSP00000449831:P1361S	ENSP00000257934:P1361S	P	+	1	0	ESPL1	51966868	0.635000	0.27199	0.983000	0.44433	0.683000	0.39861	2.609000	0.46317	2.709000	0.92574	0.655000	0.94253	CCC	-	NULL		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	C	NM_012291	-		53680601	1	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	SNP	0.948	T	T	53680601	C	T	53680601	3	4	203	1	0	0	0	0	1	0	0	0	5255	623	22	2	4147	2	ESPL1	12	53680601	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	53680601	80171294	293	16323	441	2									
NCKAP1L	3071	genome.wustl.edu	37	chr12	54929946	54929946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaggaatataaggtggCctgcctgctcttgatctttc	12	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:54929946C>T	ENST00000293373.6	+	28	3069	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A947V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	997					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TATAAGGTGGCCTGCCTGCTC	0.443																																																	0								ENSG00000123338						182	150	161					12																	54929946		2203	4300	6503	NCKAP1L	SO:0001583	missense	0			-	HGNC	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2990C>T	12.37:g.54929946C>T	ENSP00000293373:p.Ala997Val	Somatic	0	61	0		0.41568620468393	86	2.27	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	B4DUT5|Q52LW0	Missense_Mutation	SNP							pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.A997V	ENST00000293373.6	37	c.2990	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912441	0.52439	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.31247	1.5;1.5	4.31	4.31	0.51392	.	0.129745	0.51477	D	0.000098	T	0.38188	0.1031	L	0.39245	1.2	0.43054	D	0.994662	D	0.65815	0.995	D	0.64595	0.927	T	0.10154	-1.0642	10	0.02654	T	1	-14.6766	14.6721	0.68951	0.0:1.0:0.0:0.0	.	997	P55160	NCKPL_HUMAN	V	997;947	ENSP00000293373:A997V;ENSP00000445596:A947V	ENSP00000293373:A997V	A	+	2	0	NCKAP1L	53216213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.201000	0.65163	2.407000	0.81776	0.655000	0.94253	GCC	-	pfam_Nck-associated_protein-1		0.443	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	protein_coding	OTTHUMT00000406195.1	C	NM_005337	-		54929946	1	no_errors	ENST00000293373	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54929946	C	T	54929946	3	4	203	1	0	0	0	0	1	0	0	0	10224	739	26	2	3100	2	NCKAP1L	12	54929946	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1249345	54929946	78921949	294	16324											
ERBB3	2065	genome.wustl.edu	37	chr12	56490844	56490844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttagcatatgctggccattGgcagcctggaccatgcccac	10	14	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:56490844G>T	ENST00000267101.3	+	20	2730	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	ERBB3_ENST00000450146.2_Missense_Mutation_p.G121C|ERBB3_ENST00000553131.1_Missense_Mutation_p.G5C|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.G705C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTGGCCATTGGCAGCCTGGA	0.532																																																	0								ENSG00000065361						98	81	87					12																	56490844		2203	4300	6503	ERBB3	SO:0001583	missense	0			-	HGNC	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2290G>T	12.37:g.56490844G>T	ENSP00000267101:p.Gly764Cys	Somatic	0	40	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G764C	ENST00000267101.3	37	c.2290	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641271	0.87859	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.59	5.59	0.84812	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	0.000002	D	0.86310	0.5902	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87890	0.2683	10	0.87932	D	0	.	18.7303	0.91733	0.0:0.0:1.0:0.0	.	764	P21860	ERBB3_HUMAN	C	764;121;705;5	ENSP00000267101:G764C;ENSP00000399178:G121C;ENSP00000408340:G705C;ENSP00000449129:G5C	ENSP00000267101:G764C	G	+	1	0	ERBB3	54777111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.321000	0.79088	2.793000	0.96121	0.561000	0.74099	GGC	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	protein_coding	OTTHUMT00000407619.3	G		-		56490844	1	no_errors	ENST00000267101	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56490844	G	T	56490844	3	4	203	1	0	0	0	0	1	0	0	0	5210	1348	47	3	2499	3	ERBB3	12	56490844	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1560898	56490844	77361051	295	16325											
TSPAN8	7103	genome.wustl.edu	37	chr12	71533551	71533551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcccaggaagcccagaatCatgatgatggcacctacagc	9	13	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:71533551C>T	ENST00000393330.2	-	7	753	c.201G>A	c.(199-201)atG>atA	p.M67I	TSPAN8_ENST00000552786.1_5'Flank|TSPAN8_ENST00000247829.3_Missense_Mutation_p.M67I|TSPAN8_ENST00000552128.1_5'Flank|TSPAN8_ENST00000546561.1_Missense_Mutation_p.M67I			P19075	TSN8_HUMAN	tetraspanin 8	67					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AGCCCAGAATCATGATGATGG	0.443																																																	0								ENSG00000127324						167	161	163					12																	71533551		2203	4300	6503	TSPAN8	SO:0001583	missense	0			-	HGNC	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.201G>A	12.37:g.71533551C>T	ENSP00000377003:p.Met67Ile	Somatic	0	33	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	B2R7T7|Q9BS78	Missense_Mutation	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.M67I	ENST00000393330.2	37	c.201	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871811	0.51695	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.78707	-1.2;-1.2;-1.2	5.18	5.18	0.71444	Tetraspanin, conserved site (1);	0.131415	0.64402	D	0.000004	D	0.87676	0.6237	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.87253	0.2274	10	0.40728	T	0.16	.	16.5795	0.84711	0.0:1.0:0.0:0.0	.	67	P19075	TSN8_HUMAN	I	67	ENSP00000377003:M67I;ENSP00000247829:M67I;ENSP00000447160:M67I	ENSP00000247829:M67I	M	-	3	0	TSPAN8	69819818	1.000000	0.71417	0.997000	0.53966	0.126000	0.20510	2.495000	0.45337	2.572000	0.86782	0.655000	0.94253	ATG	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.443	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	protein_coding	OTTHUMT00000404737.1	C	NM_004616	-		71533551	-1	no_errors	ENST00000247829	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71533551	C	T	71533551	3	4	203	1	0	0	0	0	1	0	0	0	16660	826	29	2	536	2	TSPAN8	12	71533551	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	15042707	71533551	62318344	296	16326											
C12orf63	144535	genome.wustl.edu	37	chr12	97073485	97073485	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aataccataacagatcaatcCgacacagcagaaagttgctt	6	10	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:97073485C>A	ENST00000524981.4	+	40	5694	c.5671C>A	c.(5671-5673)Cga>Aga	p.R1891R				Q96N23	CL055_HUMAN		0																	CAGATCAATCCGACACAGCAG	0.453																																																	0								ENSG00000188596						161	154	157					12																	97073485		2203	4300	6503	C12orf55	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000524981.4:c.5671C>A	12.37:g.97073485C>A		Somatic	0	36	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11		Silent	SNP							superfamily_Fibronectin_type3	p.R1891	ENST00000524981.4	37	c.5671		12																																																																																			-	NULL		0.453	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	C		-		97073485	1	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	SNP	0.976	A	A	97073485	C	A	97073485	2	1	203	1	0	0	0	0	0	0	0	1	1708	644	23	3		3	C12orf63	12	97073485	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	25539934	97073485	36778410	297	16327											
ANKS1B	56899	genome.wustl.edu	37	chr12	99145269	99145269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcgacttcgaatgcctgtCccagggttaggatgatttca	11	9	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:99145269C>T	ENST00000547776.2	-	25	3535	c.3536G>A	c.(3535-3537)gGa>gAa	p.G1179E	ANKS1B_ENST00000549493.2_Missense_Mutation_p.G429E|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G345E|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G345E|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G695E|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G369E|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G185E|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G277E|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G405E|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G369E|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1179E|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G209E|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G314E	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1179	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAATGCCTGTCCCAGGGTTAG	0.458																																																	0								ENSG00000185046						160	159	160					12																	99145269		1895	4101	5996	ANKS1B	SO:0001583	missense	0			-	HGNC	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3536G>A	12.37:g.99145269C>T	ENSP00000449629:p.Gly1179Glu	Somatic	0	87	0		0.41568620468393	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G1179E	ENST00000547776.2	37	c.3536	CCDS55872.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.017736|5.017736	0.93404|0.93404	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.26957	.|1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.61689|0.61689	0.2367|0.2367	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|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;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	T|T	0.72257|0.72257	-0.4346|-0.4346	5|10	.|0.87932	.|D	.|0	-10.7863|-10.7863	18.4626|18.4626	0.90745|0.90745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|314;209;209;405;369;319;393;345;429;277;695;1179;345	.|F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	N|E	451|185;345;1179;695;1179;694;369;277;429;314;209;345;369;270;405	.|ENSP00000345510:G185E;ENSP00000448993:G345E;ENSP00000449629:G1179E;ENSP00000448512:G695E;ENSP00000331381:G1179E;ENSP00000447999:G369E;ENSP00000447312:G277E;ENSP00000448203:G429E;ENSP00000450015:G314E;ENSP00000331256:G209E;ENSP00000448205:G345E;ENSP00000332683:G369E;ENSP00000447839:G405E	.|ENSP00000331381:G1179E	D|G	-|-	1|2	0|0	ANKS1B|ANKS1B	97669400|97669400	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	7.772000|7.772000	0.85439|0.85439	2.368000|2.368000	0.80403|0.80403	0.561000|0.561000	0.74099|0.74099	GAC|GGA	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.458	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	protein_coding	OTTHUMT00000408421.3	C	NM_020140	-		99145269	-1	no_errors	ENST00000329257	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99145269	C	T	99145269	3	4	203	1	0	0	0	0	1	0	0	0	689	855	30	2	333	2	ANKS1B	12	99145269	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2071784	99145269	34706626	298	16328											
CRY1	1407	genome.wustl.edu	37	chr12	107393622	107393622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccataaagggaaaggggagGggaactgttcttctttacct	12	8	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr12:107393622G>A	ENST00000008527.5	-	7	1711	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	282					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GAAAGGGGAGGGGAACTGTTC	0.333																																																	0								ENSG00000008405						44	47	46					12																	107393622		2203	4300	6503	CRY1	SO:0001583	missense	0			-	HGNC	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.844C>T	12.37:g.107393622G>A	ENSP00000008527:p.Pro282Ser	Somatic	0	74	0		0.41568620468393	42	32.26	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	16.28		Missense_Mutation	SNP							pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.P282S	ENST00000008527.5	37	c.844	CCDS9112.1	12	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996798	0.93167	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.88	5.88	0.94601	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	T	0.65598	-0.6129	9	0.44086	T	0.13	-14.7658	20.2381	0.98363	0.0:0.0:1.0:0.0	.	282	Q16526	CRY1_HUMAN	S	282	.	ENSP00000008527:P282S	P	-	1	0	CRY1	105917752	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.865000	0.99609	2.779000	0.95612	0.650000	0.86243	CCT	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C		0.333	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	protein_coding	OTTHUMT00000406827.1	G	NM_004075	-		107393622	-1	no_errors	ENST00000008527	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107393622	G	A	107393622	3	1	203	1	0	0	0	0	1	0	0	0	3905	1232	43	2	940	2	CRY1	12	107393622	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	8248353	107393622	26458273	299	16329											
GJB2	2706	genome.wustl.edu	37	chr13	20763342	20763342	+	Missense_Mutation	SNP	G	G	A													ccacagggagccttcgatgcGgaccttctgggttttgatct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:20763342G>A	ENST00000382844.1	-	1	577	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	GJB2_ENST00000382848.4_Missense_Mutation_p.R127C			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	127			R -> H (very common polymorphism in India; dbSNP:rs111033196). {ECO:0000269|PubMed:12746422, ECO:0000269|PubMed:14722929, ECO:0000269|PubMed:15666300}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCTTCGATGCGGACCTTCTGG	0.512									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CM014710	GJB2	M		ENSG00000165474						114	107	109					13																	20763342		2203	4300	6503	GJB2	SO:0001583	missense	0	Familial Cancer Database	KID syndrome	-	HGNC	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.379C>T	13.37:g.20763342G>A	ENSP00000372295:p.Arg127Cys	Somatic	0	33	0	743	0.41568620468393	63	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin26	p.R127C	ENST00000382844.1	37	c.379	CCDS9290.1	13	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694148	0.68386	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.97791	-4.54;-4.54	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	D	0.96188	0.8757	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	B	0.43536	0.423	D	0.95978	0.8975	10	0.56958	D	0.05	.	14.5272	0.67897	0.0:0.0:0.8535:0.1465	.	127	P29033	CXB2_HUMAN	C	127	ENSP00000372299:R127C;ENSP00000372295:R127C	ENSP00000372295:R127C	R	-	1	0	GJB2	19661342	0.998000	0.40836	0.999000	0.59377	0.862000	0.49288	4.443000	0.59994	2.723000	0.93209	0.655000	0.94253	CGC	-	NULL		0.512	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB2	protein_coding	OTTHUMT00000044064.1	G		-		20763342	-1	no_errors	ENST00000382844	ensembl	human	known	74_37	missense	SNP	0.995	A	A	20763342	G	A	20763342	3	1	203	1	0	0	0	0	1	0	0	0	6410	1116	39	1	305	1	GJB2	13	20763342	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		20763342	94406536	300	16330	442	2									
GJB2	2706	genome.wustl.edu	37	chr13	20763343	20763343	+	Silent	SNP	G	G	A													cacagggagccttcgatgcgGaccttctgggttttgatctc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:20763343G>A	ENST00000382844.1	-	1	576	c.378C>T	c.(376-378)gtC>gtT	p.V126V	GJB2_ENST00000382848.4_Silent_p.V126V			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	126					cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CTTCGATGCGGACCTTCTGGG	0.507									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000165474						115	108	110					13																	20763343		2203	4300	6503	GJB2	SO:0001819	synonymous_variant	0	Familial Cancer Database	KID syndrome	-	HGNC	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.378C>T	13.37:g.20763343G>A		Somatic	0	32	0	743	0.41568620468393	55	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin26	p.V126	ENST00000382844.1	37	c.378	CCDS9290.1	13																																																																																			-	NULL		0.507	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB2	protein_coding	OTTHUMT00000044064.1	G		-		20763343	-1	no_errors	ENST00000382844	ensembl	human	known	74_37	silent	SNP	0.979	A	A	20763343	G	A	20763343	2	1	203	1	0	0	0	0	0	0	0	1	6410	1161	41	2		2	GJB2	13	20763343	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	20763343	94406535	301	16331	442	2									
RNF17	56163	genome.wustl.edu	37	chr13	25367256	25367256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaggaactttcttgttacGatacatacccaccgctagaa	6	10	1	1	rs572750591		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:25367256G>A	ENST00000255324.5	+	10	1064	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.D338N|RNF17_ENST00000255325.6_Missense_Mutation_p.D338N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	338					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTCTTGTTACGATACATACCC	0.343													G|||	1	0.000199681	0	0	5008	,	,		20340	0		0	False		,,,				2504	0.001																0								ENSG00000132972						136	133	134					13																	25367256		2203	4300	6503	RNF17	SO:0001583	missense	0			-	HGNC	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1012G>A	13.37:g.25367256G>A	ENSP00000255324:p.Asp338Asn	Somatic	0	69	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP							pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.D338N	ENST00000255324.5	37	c.1012	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	3.363	-0.129990	0.06753	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.30448	2.64;2.66;1.53	5.07	3.33	0.38152	.	0.281525	0.30611	N	0.009250	T	0.33644	0.0870	L	0.32530	0.975	0.09310	N	1	P;P;D	0.89917	0.913;0.913;1.0	B;B;D	0.63703	0.163;0.163;0.917	T	0.11591	-1.0581	10	0.17369	T	0.5	.	6.8838	0.24189	0.0933:0.1763:0.7303:0.0	.	338;338;338	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	N	338;338;197;339;338	ENSP00000255324:D338N;ENSP00000371346:D338N;ENSP00000255325:D339N	ENSP00000255324:D338N	D	+	1	0	RNF17	24265256	0.042000	0.20092	0.003000	0.11579	0.001000	0.01503	1.518000	0.35877	0.723000	0.32274	-0.142000	0.14014	GAT	-	NULL		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	protein_coding	OTTHUMT00000044217.1	G	NM_031994	-		25367256	1	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	SNP	0.006	A	A	25367256	G	A	25367256	3	1	203	1	0	0	0	0	1	0	0	0	13469	1058	37	1	1050	1	RNF17	13	25367256	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4603913	25367256	89802622	302	16332											
FREM2	341640	genome.wustl.edu	37	chr13	39265511	39265511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctttggtttatattattCgttatgggccaggacatggc	10	6	1	0	rs114409305	byFrequency	TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:39265511C>T	ENST00000280481.7	+	1	4246	c.4030C>T	c.(4030-4032)Cgt>Tgt	p.R1344C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1344					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)		TTATATTATTCGTTATGGGCC	0.363																																																	0								ENSG00000150893						72	75	74					13																	39265511		2203	4300	6503	FREM2	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.4030C>T	13.37:g.39265511C>T	ENSP00000280481:p.Arg1344Cys	Somatic	0	71	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R1344C	ENST00000280481.7	37	c.4030	CCDS31960.1	13	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.39	3.377434	0.61735	.	.	ENSG00000150893	ENST00000280481	T	0.54866	0.55	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.63488	0.915	T	0.79727	-0.1682	10	0.72032	D	0.01	.	15.7452	0.77936	0.1446:0.8554:0.0:0.0	.	1344	Q5SZK8	FREM2_HUMAN	C	1344	ENSP00000280481:R1344C	ENSP00000280481:R1344C	R	+	1	0	FREM2	38163511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.190000	0.72057	2.746000	0.94184	0.655000	0.94253	CGT	-	NULL		0.363	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361	rs114409305		39265511	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39265511	C	T	39265511	3	4	203	1	0	0	0	0	1	0	0	0	6047	884	31	1	4032	1	FREM2	13	39265511	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	13898255	39265511	75904367	303	16333											
C13orf23	80209	genome.wustl.edu	37	chr13	39587630	39587630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagatctgaggtacctgGgtgggggccacgcaaaaggg	17	8	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:39587630G>A	ENST00000352251.3	-	11	2592	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	PROSER1_ENST00000350125.3_Missense_Mutation_p.P565S|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	587	Ser-rich.																GAGGTACCTGGGTGGGGGCCA	0.532																																																	0								ENSG00000120685						102	110	108					13																	39587630		2203	4300	6503	PROSER1	SO:0001583	missense	0			-	HGNC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1759C>T	13.37:g.39587630G>A	ENSP00000332034:p.Pro587Ser	Somatic	0	50	0		0.41568620468393	15	11.76	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP							NULL	p.P587S	ENST00000352251.3	37	c.1759	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095222	0.36952	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.32988	1.43;1.43	5.05	-1.06	0.10002	.	.	.	.	.	T	0.18509	0.0444	L	0.27053	0.805	0.09310	N	1	P;P	0.42296	0.775;0.775	B;B	0.39660	0.306;0.23	T	0.15464	-1.0436	8	.	.	.	-0.048	7.004	0.24826	0.2118:0.3783:0.4099:0.0	.	565;587	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	587;565	ENSP00000332034:P587S;ENSP00000339123:P565S	.	P	-	1	0	PROSER1	38485630	1.000000	0.71417	0.000000	0.03702	0.447000	0.32167	0.939000	0.28978	-0.486000	0.06744	-0.258000	0.10820	CCA	-	NULL		0.532	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	protein_coding	OTTHUMT00000044607.5	G	NM_025138	-		39587630	-1	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	SNP	0.001	A	A	39587630	G	A	39587630	3	1	203	1	0	0	0	0	1	0	0	0	1723	1232	43	2	1087	2	C13orf23	13	39587630	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	322119	39587630	75582248	304	16334											
COG6	57511	genome.wustl.edu	37	chr13	40253752	40253752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgtacaaatcaacaaacGgcagggtgagtaactgctca	10	9	2	1	rs147738794		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:40253752G>A	ENST00000455146.3	+	6	668	c.618G>A	c.(616-618)acG>acA	p.T206T	COG6_ENST00000416691.1_Silent_p.T206T|COG6_ENST00000465775.1_3'UTR	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	206					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATCAACAAACGGCAGGGTGAG	0.328																																																	0								ENSG00000133103	G	,	2,4404	4.2+/-10.8	0,2,2201	97	90	93		618,618	-6.1	1	13	dbSNP_134	93	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	COG6	NM_001145079.1,NM_020751.2	,	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,	206/616,206/658	40253752	2,13002	2203	4299	6502	COG6	SO:0001819	synonymous_variant	0			-	HGNC	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.618G>A	13.37:g.40253752G>A		Somatic	0	47	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP							pfam_COG6	p.T206	ENST00000455146.3	37	c.618	CCDS9370.1	13																																																																																			-	pfam_COG6		0.328	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	protein_coding	OTTHUMT00000044622.3	G		rs147738794		40253752	1	no_errors	ENST00000455146	ensembl	human	known	74_37	silent	SNP	0.642	A	A	40253752	G	A	40253752	2	1	203	1	0	0	0	0	0	0	0	1	3664	1103	39	1		1	COG6	13	40253752	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	666122	40253752	74916126	305	16335											
RB1	5925	genome.wustl.edu	37	chr13	48954210	48954210	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaagaacgattatccattCaaaattttaggtaaattttt	5	4	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:48954210C>T	ENST00000267163.4	+	15	1549	c.1411C>T	c.(1411-1413)Caa>Taa	p.Q471*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	471	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.Q471*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATTATCCATTCAAAATTTTAG	0.199		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	24	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|skin(1)						ENSG00000139687						5	5	5					13																	48954210		1731	3825	5556	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1411C>T	13.37:g.48954210C>T	ENSP00000267163:p.Gln471*	Somatic	0	38	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q471*	ENST00000267163.4	37	c.1411	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.537207	0.98345	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.58	5.58	0.84498	.	0.113654	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	450;471	.	ENSP00000267163:Q471X	Q	+	1	0	RB1	47852211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.962000	0.76048	2.780000	0.95670	0.655000	0.94253	CAA	-	pfam_RB_A,superfamily_Cyclin-like		0.199	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		-		48954210	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48954210	C	T	48954210	4	4	203	1	0	0	0	0	0	1	0	0	13106	827	29	2	1469	2	RB1	13	48954210	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	8700458	48954210	66215668	306	16336											
RB1	5925	genome.wustl.edu	37	chr13	49039374	49039374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaatacctcacattcctCgaagcccttacaagtttcct	3	16	1	0	rs137853293		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:49039374C>T	ENST00000267163.4	+	23	2497	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	787	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCACATTCCTCGAAGCCCTTA	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	30	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(4)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|oesophagus(1)|ovary(1)|prostate(1)|liver(1)	GRCh37	CM900196	RB1	M	rs137853293	ENSG00000139687						155	160	158					13																	49039374		2203	4300	6503	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2359C>T	13.37:g.49039374C>T	ENSP00000267163:p.Arg787*	Somatic	0	69	0		0.41568620468393	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R787*	ENST00000267163.4	37	c.2359	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.630709	0.98399	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.072182	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6067	0.62052	0.271:0.729:0.0:0.0	.	.	.	.	X	766;787	.	ENSP00000267163:R787X	R	+	1	2	RB1	47937375	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.152000	0.42272	2.779000	0.95612	0.591000	0.81541	CGA	-	pfam_RB_C		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		rs137853293		49039374	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	49039374	C	T	49039374	4	4	203	1	0	0	0	0	0	1	0	0	13106	876	31	1	2449	1	RB1	13	49039374	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	85164	49039374	66130504	307	16337											
OLFM4	10562	genome.wustl.edu	37	chr13	53624877	53624877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggttaccttctgaattatGatctttctgtcttgcagaag	8	7	4	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:53624877G>A	ENST00000219022.2	+	5	1582	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	502	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTGAATTATGATCTTTCTGT	0.358																																																	0								ENSG00000102837						73	75	74					13																	53624877		2203	4299	6502	OLFM4	SO:0001583	missense	0			-	HGNC	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1504G>A	13.37:g.53624877G>A	ENSP00000219022:p.Asp502Asn	Somatic	0	55	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP							pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.D502N	ENST00000219022.2	37	c.1504	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643717	0.47258	.	.	ENSG00000102837	ENST00000219022	T	0.19669	2.13	5.64	4.8	0.61643	Olfactomedin-like (3);	0.222293	0.45867	D	0.000336	T	0.22936	0.0554	L	0.50919	1.6	0.47441	D	0.999427	B	0.21905	0.062	B	0.31016	0.123	T	0.03545	-1.1026	10	0.18710	T	0.47	.	14.4363	0.67282	0.0708:0.0:0.9292:0.0	.	502	Q6UX06	OLFM4_HUMAN	N	502	ENSP00000219022:D502N	ENSP00000219022:D502N	D	+	1	0	OLFM4	52522878	0.814000	0.29104	0.780000	0.31762	0.708000	0.40852	1.115000	0.31209	1.378000	0.46305	0.585000	0.79938	GAT	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like		0.358	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	protein_coding	OTTHUMT00000045112.2	G	NM_006418	-		53624877	1	no_errors	ENST00000219022	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53624877	G	A	53624877	3	1	203	1	0	0	0	0	1	0	0	0	10857	1290	45	2	1522	2	OLFM4	13	53624877	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4585503	53624877	61545001	308	16338											
LMO7	4008	genome.wustl.edu	37	chr13	76374986	76374986	+	Missense_Mutation	SNP	C	C	T													gaggtcattgacaagctgctCctctgatatcacgttgagag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:76374986C>T	ENST00000341547.4	+	8	2045	c.785C>T	c.(784-786)tCc>tTc	p.S262F	LMO7_ENST00000526202.1_Missense_Mutation_p.S171F|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.S262F|LMO7_ENST00000377534.3_Missense_Mutation_p.S262F	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	262					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAAGCTGCTCCTCTGATATC	0.468																																																	0								ENSG00000136153						173	180	178					13																	76374986		2203	4300	6503	LMO7	SO:0001583	missense	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.785C>T	13.37:g.76374986C>T	ENSP00000342112:p.Ser262Phe	Somatic	0	71	0		0.41568620468393	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP							pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S262F	ENST00000341547.4	37	c.785	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279443	0.80692	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.61392	0.74;0.57;0.58;0.25;0.11	5.61	2.9	0.33743	.	0.137650	0.51477	N	0.000095	T	0.71753	0.3377	M	0.75777	2.31	0.49213	D	0.999767	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.70605	-0.4826	10	0.87932	D	0	-2.3194	8.6695	0.34140	0.0:0.7364:0.126:0.1376	.	171;262;210	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	F	262;262;262;210;171	ENSP00000342112:S262F;ENSP00000349571:S262F;ENSP00000366757:S262F;ENSP00000366719:S210F;ENSP00000431129:S171F	ENSP00000342112:S262F	S	+	2	0	LMO7	75272987	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	2.902000	0.48703	0.298000	0.22638	0.591000	0.81541	TCC	-	NULL		0.468	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	protein_coding	OTTHUMT00000045297.1	C	NM_005358	-		76374986	1	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76374986	C	T	76374986	3	4	203	1	0	0	0	0	1	0	0	0	8857	855	30	2	815	2	LMO7	13	76374986	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	22750109	76374986	38794892	309	16339	443	2									
LMO7	4008	genome.wustl.edu	37	chr13	76374987	76374987	+	Silent	SNP	C	C	T													aggtcattgacaagctgctcCtctgatatcacgttgagagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:76374987C>T	ENST00000341547.4	+	8	2046	c.786C>T	c.(784-786)tcC>tcT	p.S262S	LMO7_ENST00000526202.1_Silent_p.S171S|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Silent_p.S262S|LMO7_ENST00000377534.3_Silent_p.S262S	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	262					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAGCTGCTCCTCTGATATCA	0.463																																																	0								ENSG00000136153						173	180	178					13																	76374987		2203	4300	6503	LMO7	SO:0001819	synonymous_variant	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.786C>T	13.37:g.76374987C>T		Somatic	0	72	0		0.41568620468393	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP							pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S262	ENST00000341547.4	37	c.786	CCDS9454.1	13																																																																																			-	NULL		0.463	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	protein_coding	OTTHUMT00000045297.1	C	NM_005358	-		76374987	1	no_errors	ENST00000357063	ensembl	human	known	74_37	silent	SNP	1.000	T	T	76374987	C	T	76374987	2	4	203	1	0	0	0	0	0	0	0	1	8857	668	24	2		2	LMO7	13	76374987	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	76374987	38794891	310	16340	443	2									
SLAIN1	122060	genome.wustl.edu	37	chr13	78318545	78318545	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacctcactgatgttcagatCatggctcgtctgcaagaaga	10	10	4	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:78318545C>T	ENST00000466548.1	+	4	854	c.828C>T	c.(826-828)atC>atT	p.I276I	SLAIN1_ENST00000267219.8_Silent_p.I57I|SLAIN1_ENST00000488699.1_Silent_p.I134I|SLAIN1_ENST00000351546.3_Silent_p.I13I|SLAIN1_ENST00000418532.1_Silent_p.I57I|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_Silent_p.I13I|SLAIN1_ENST00000314070.5_Silent_p.I13I	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	276										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		ATGTTCAGATCATGGCTCGTC	0.438																																																	0								ENSG00000139737						82	75	77					13																	78318545		2203	4300	6503	SLAIN1	SO:0001819	synonymous_variant	0			-	HGNC	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"chromosome 13 open reading frame 32"	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.828C>T	13.37:g.78318545C>T		Somatic	0	61	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP							NULL	p.I276	ENST00000466548.1	37	c.828		13																																																																																			-	NULL		0.438	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	SLAIN1	protein_coding	OTTHUMT00000355018.1	C	NM_144595	-		78318545	1	no_errors	ENST00000466548	ensembl	human	known	74_37	silent	SNP	1.000	T	T	78318545	C	T	78318545	2	4	203	1	0	0	0	0	0	0	0	1	14373	816	29	2		2	SLAIN1	13	78318545	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1943558	78318545	36851333	311	16341											
ARGLU1	55082	genome.wustl.edu	37	chr13	107220058	107220058	+	Silent	SNP	C	C	T													gacgaggcgcgctcccggtcCcgctcgcgccgggacacggc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:107220058C>T	ENST00000400198.3	-	1	454	c.210G>A	c.(208-210)cgG>cgA	p.R70R		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	70	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GCTCCCGGTCCCGCTCGCGCC	0.692																																																	0								ENSG00000134884						20	21	21					13																	107220058		1879	4080	5959	ARGLU1	SO:0001819	synonymous_variant	0			-	HGNC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.210G>A	13.37:g.107220058C>T		Somatic	0	44	0		0.41568620468393	34	30.61	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	B4E0Y3|Q5T257|Q6IQ34	Silent	SNP							NULL	p.R70	ENST00000400198.3	37	c.210	CCDS41906.1	13																																																																																			-	NULL		0.692	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	protein_coding	OTTHUMT00000045727.1	C	NM_018011	-		107220058	-1	no_errors	ENST00000400198	ensembl	human	known	74_37	silent	SNP	1.000	T	T	107220058	C	T	107220058	2	4	203	1	0	0	0	0	0	0	0	1	860	610	22	2		2	ARGLU1	13	107220058	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	28901513	107220058	7949820	312	16342	444	2									
ARGLU1	55082	genome.wustl.edu	37	chr13	107220059	107220059	+	Missense_Mutation	SNP	C	C	T													acgaggcgcgctcccggtccCgctcgcgccgggacacggcc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr13:107220059C>T	ENST00000400198.3	-	1	453	c.209G>A	c.(208-210)cGg>cAg	p.R70Q		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	70	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTCCCGGTCCCGCTCGCGCCG	0.692																																																	0								ENSG00000134884						20	21	20					13																	107220059		1875	4074	5949	ARGLU1	SO:0001583	missense	0			-	HGNC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.209G>A	13.37:g.107220059C>T	ENSP00000383059:p.Arg70Gln	Somatic	0	46	0		0.41568620468393	32	30.43	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP							NULL	p.R70Q	ENST00000400198.3	37	c.209	CCDS41906.1	13	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369388	0.82463	.	.	ENSG00000134884	ENST00000400198	T	0.22539	1.95	3.89	3.89	0.44902	.	0.000000	0.47093	D	0.000243	T	0.22205	0.0535	L	0.49778	1.585	0.80722	D	1	P	0.47302	0.893	B	0.43360	0.417	T	0.05683	-1.0870	10	0.15066	T	0.55	-4.5609	16.0497	0.80745	0.0:1.0:0.0:0.0	.	70	Q9NWB6	ARGL1_HUMAN	Q	70	ENSP00000383059:R70Q	ENSP00000383059:R70Q	R	-	2	0	ARGLU1	106018060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.028000	0.57246	1.997000	0.58415	0.462000	0.41574	CGG	-	NULL		0.692	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	protein_coding	OTTHUMT00000045727.1	C	NM_018011	-		107220059	-1	no_errors	ENST00000400198	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107220059	C	T	107220059	3	4	203	1	0	0	0	0	1	0	0	0	860	652	23	1	628	1	ARGLU1	13	107220059	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	107220059	7949819	313	16343	444	2									
OR4K15	81127	genome.wustl.edu	37	chr14	20443867	20443867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttatctagcaattctgTtgggcaactttctcatcatc	5	10	4	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:20443867T>C	ENST00000305051.5	+	1	265	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCAATTCTGTTGGGCAACTT	0.438																																																	0								ENSG00000169488						106	122	116					14																	20443867		2203	4299	6502	OR4K15	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.190T>C	14.37:g.20443867T>C		Somatic	0	95	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	89	15.24	B9EIL3|Q6IEZ4	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64	ENST00000305051.5	37	c.190	CCDS32026.1	14																																																																																			-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.438	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K15	protein_coding	OTTHUMT00000409883.1	T		-		20443867	1	no_errors	ENST00000305051	ensembl	human	known	74_37	silent	SNP	0.004	C	C	20443867	T	C	20443867	2	2	203	1	0	0	0	0	0	0	0	1	11072	1722	60	5		5	OR4K15	14	20443867	Silent	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09		20443867	86905673	314	16344											
OR11H6	122748	genome.wustl.edu	37	chr14	20692781	20692781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgactccattcttaaatCcccttatctatagtcttcga	3	12	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:20692781C>T	ENST00000315519.2	+	1	991	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATTCTTAAATCCCCTTATCTA	0.413																																																	0								ENSG00000176219						102	104	104					14																	20692781		2203	4300	6503	OR11H6	SO:0001583	missense	0			-	HGNC		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.913C>T	14.37:g.20692781C>T	ENSP00000319071:p.Pro305Ser	Somatic	0	48	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	Q6IF08	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P305S	ENST00000315519.2	37	c.913	CCDS32033.1	14	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276246	0.40294	.	.	ENSG00000176219	ENST00000315519	T	0.63417	-0.04	5.0	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	D	0.84051	0.5387	H	0.96301	3.8	0.36515	D	0.869831	D	0.89917	1.0	D	0.97110	1.0	D	0.90024	0.4130	10	0.87932	D	0	.	11.3302	0.49470	0.0:0.9108:0.0:0.0892	.	305	Q8NGC7	O11H6_HUMAN	S	305	ENSP00000319071:P305S	ENSP00000319071:P305S	P	+	1	0	OR11H6	19762621	1.000000	0.71417	0.987000	0.45799	0.146000	0.21551	7.193000	0.77780	1.328000	0.45358	0.471000	0.43371	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.413	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	protein_coding	OTTHUMT00000410676.1	C		-		20692781	1	no_errors	ENST00000315519	ensembl	human	known	74_37	missense	SNP	0.999	T	T	20692781	C	T	20692781	3	4	203	1	0	0	0	0	1	0	0	0	10931	855	30	2	915	2	OR11H6	14	20692781	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	248914	20692781	86656759	315	16345											
NOVA1	4857	genome.wustl.edu	37	chr14	26949207	26949207	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgcgatctggattaacGgtggtctggggttgtagaat	15	4	2	2	rs114949068		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:26949207G>T	ENST00000344429.5	-	3	426	c.423C>A	c.(421-423)acC>acA	p.T141T	NOVA1_ENST00000465357.2_Silent_p.T141T|NOVA1_ENST00000547619.1_Silent_p.T141T|NOVA1_ENST00000539517.2_Silent_p.T141T|NOVA1_ENST00000574031.1_Silent_p.T141T|NOVA1_ENST00000267422.7_Silent_p.T19T	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	144					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGGATTAACGGTGGTCTGGG	0.398																																																	0								ENSG00000139910						223	188	200					14																	26949207		2203	4300	6503	NOVA1	SO:0001819	synonymous_variant	0			-	HGNC	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.423C>A	14.37:g.26949207G>T		Somatic	0	54	0		0.41568620468393	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.T141	ENST00000344429.5	37	c.423	CCDS9635.1	14																																																																																			-	NULL		0.398	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	protein_coding	OTTHUMT00000276557.1	G	NM_006491	-		26949207	-1	no_errors	ENST00000539517	ensembl	human	known	74_37	silent	SNP	0.996	T	T	26949207	G	T	26949207	2	4	203	1	0	0	0	0	0	0	0	1	10556	1103	39	3		3	NOVA1	14	26949207	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	6256426	26949207	80400333	316	16346											
FSCB	84075	genome.wustl.edu	37	chr14	44974210	44974210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggcctcctcagctggtgGaggctgaacttcagcggggg	19	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:44974210G>A	ENST00000340446.4	-	1	2272	c.1981C>T	c.(1981-1983)Cca>Tca	p.P661S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	661	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCTGGTGGAGGCTGAACT	0.627																																																	0								ENSG00000189139						3	4	4					14																	44974210		1321	2998	4319	FSCB	SO:0001583	missense	0			-	HGNC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1981C>T	14.37:g.44974210G>A	ENSP00000344579:p.Pro661Ser	Somatic	0	81	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP							NULL	p.P661S	ENST00000340446.4	37	c.1981	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	8.904	0.957018	0.18507	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14516	2.5	3.94	2.04	0.26737	.	.	.	.	.	T	0.23688	0.0573	L	0.55481	1.735	0.09310	N	1	D	0.65815	0.995	D	0.63877	0.919	T	0.13202	-1.0518	9	0.20046	T	0.44	.	7.0687	0.25167	0.1014:0.1756:0.7231:0.0	.	661	Q5H9T9	FSCB_HUMAN	S	661;554	ENSP00000344579:P661S	ENSP00000344579:P661S	P	-	1	0	FSCB	44043960	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.192000	0.09587	0.425000	0.26087	-0.687000	0.03738	CCA	-	NULL		0.627	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	protein_coding	OTTHUMT00000276788.1	G	NM_032135	-		44974210	-1	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	SNP	0.074	A	A	44974210	G	A	44974210	3	1	203	1	0	0	0	0	1	0	0	0	6068	1174	41	2	500	2	FSCB	14	44974210	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	18025003	44974210	62375330	317	16347											
DDHD1	80821	genome.wustl.edu	37	chr14	53522448	53522448	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggacaaaactggtgaggtCacagggcttggtatggttga	16	6	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:53522448C>T	ENST00000323669.5	-	10	2174	c.2175G>A	c.(2173-2175)gtG>gtA	p.V725V	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000395606.1_Silent_p.V732V|DDHD1_ENST00000357758.3_Silent_p.V725V	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	725	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTGGTGAGGTCACAGGGCTTG	0.398																																																	0								ENSG00000100523						202	196	198					14																	53522448		2203	4300	6503	DDHD1	SO:0001819	synonymous_variant	0			-	HGNC	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.2175G>A	14.37:g.53522448C>T		Somatic	0	104	0		0.41568620468393	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	70	23.08	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP							pfam_DDHD,pfscan_DDHD	p.V725	ENST00000323669.5	37	c.2175	CCDS53895.1	14																																																																																			-	pfam_DDHD,pfscan_DDHD		0.398	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	protein_coding	OTTHUMT00000276901.1	C		-		53522448	-1	no_errors	ENST00000323669	ensembl	human	known	74_37	silent	SNP	0.841	T	T	53522448	C	T	53522448	2	4	203	1	0	0	0	0	0	0	0	1	4328	813	29	2		2	DDHD1	14	53522448	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	8548238	53522448	53827092	318	16348											
DACT1	51339	genome.wustl.edu	37	chr14	59113171	59113171	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaacgcgggccgggagcaaGaagtgtcgcttcccagatga	14	10	0	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:59113171G>A	ENST00000335867.4	+	4	1854	c.1830G>A	c.(1828-1830)aaG>aaA	p.K610K	DACT1_ENST00000395153.3_Silent_p.K573K|DACT1_ENST00000556859.1_Silent_p.K329K|DACT1_ENST00000541264.2_Silent_p.K329K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	610					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGGGAGCAAGAAGTGTCGCT	0.622																																																	0								ENSG00000165617						18	21	20					14																	59113171		2192	4296	6488	DACT1	SO:0001819	synonymous_variant	0			-	HGNC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1830G>A	14.37:g.59113171G>A		Somatic	0	65	0		0.41568620468393	12	42.86	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	A8MYJ2|Q86TY0	Silent	SNP							NULL	p.K610	ENST00000335867.4	37	c.1830	CCDS9736.1	14																																																																																			-	NULL		0.622	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	G	NM_016651	-		59113171	1	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	SNP	1.000	A	A	59113171	G	A	59113171	2	1	203	1	0	0	0	0	0	0	0	1	4224	933	33	2		2	DACT1	14	59113171	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5590723	59113171	48236369	319	16349											
SNW1	22938	genome.wustl.edu	37	chr14	78184492	78184492	+	Missense_Mutation	SNP	G	G	C													tggggcggctgctatctgagGgtcttttagagccaccatgc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:78184492G>C	ENST00000261531.7	-	14	1612	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P355R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P544A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	517					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTATCTGAGGGTCTTTTAGA	0.488																																																	0								ENSG00000100603						176	177	177					14																	78184492		2203	4300	6503	SNW1	SO:0001583	missense	0			-	HGNC	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1550C>G	14.37:g.78184492G>C	ENSP00000261531:p.Pro517Arg	Somatic	0	53	0		0.41568620468393	222	23.45	68	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP							pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.P517R	ENST00000261531.7	37	c.1550	CCDS9867.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.03|11.03	1.518385|1.518385	0.27211|0.27211	.|.	.|.	ENSG00000100603|ENSG00000100603	ENST00000555761|ENST00000261531;ENST00000554775	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.35711|0.35711	0.0941|0.0941	N|N	0.08118|0.08118	0|0	0.32546|0.32546	N|N	0.533049|0.533049	B|B	0.02656|0.15719	0.0|0.014	B|B	0.04013|0.11329	0.001|0.006	T|T	0.24621|0.24621	-1.0155|-1.0155	8|9	.|0.19147	.|T	.|0.46	.|.	19.7896|19.7896	0.96452|0.96452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	544|517	G3V3A4|Q13573	.|SNW1_HUMAN	A|R	544|517;355	.|.	.|ENSP00000261531:P517R	P|P	-|-	1|2	0|0	SNW1|SNW1	77254245|77254245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.143000|9.143000	0.94623|0.94623	2.694000|2.694000	0.91930|0.91930	0.467000|0.467000	0.42956|0.42956	CCT|CCC	-	NULL		0.488	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	protein_coding	OTTHUMT00000413912.1	G	NM_012245	-		78184492	-1	no_errors	ENST00000261531	ensembl	human	known	74_37	missense	SNP	1.000	C	C	78184492	G	C	78184492	3	2	203	1	0	0	0	0	1	0	0	0	14887	1232	43	4	64	4	SNW1	14	78184492	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	19071321	78184492	29165048	320	16350	445	2									
SNW1	22938	genome.wustl.edu	37	chr14	78184493	78184493	+	Missense_Mutation	SNP	G	G	A													ggggcggctgctatctgaggGtcttttagagccaccatgct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:78184493G>A	ENST00000261531.7	-	14	1611	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P355S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Silent_p.D543D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	517					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTATCTGAGGGTCTTTTAGAG	0.488																																																	0								ENSG00000100603						176	177	177					14																	78184493		2203	4300	6503	SNW1	SO:0001583	missense	0			-	HGNC	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1549C>T	14.37:g.78184493G>A	ENSP00000261531:p.Pro517Ser	Somatic	0	53	0		0.41568620468393	222	23.71	69	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP							pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.P517S	ENST00000261531.7	37	c.1549	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178103	0.38511	.	.	ENSG00000100603	ENST00000261531;ENST00000554775	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	N	0.08118	0	0.80722	D	1	P	0.43750	0.816	B	0.38264	0.269	T	0.17440	-1.0369	9	0.13853	T	0.58	.	19.7896	0.96452	0.0:0.0:1.0:0.0	.	517	Q13573	SNW1_HUMAN	S	517;355	.	ENSP00000261531:P517S	P	-	1	0	SNW1	77254246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.143000	0.94623	2.694000	0.91930	0.467000	0.42956	CCC	-	NULL		0.488	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	protein_coding	OTTHUMT00000413912.1	G	NM_012245	-		78184493	-1	no_errors	ENST00000261531	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78184493	G	A	78184493	3	1	203	1	0	0	0	0	1	0	0	0	14887	1261	44	2	65	2	SNW1	14	78184493	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	78184493	29165047	321	16351	445	2									
KCNK10	54207	genome.wustl.edu	37	chr14	88693813	88693813	+	Missense_Mutation	SNP	C	C	T													agaaaccaaagagtggaattCcaaagatggcatataaaata							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:88693813C>T	ENST00000340700.5	-	4	1023	c.572G>A	c.(571-573)gGa>gAa	p.G191E	KCNK10_ENST00000312350.5_Missense_Mutation_p.G196E|KCNK10_ENST00000319231.5_Missense_Mutation_p.G196E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	191					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGTGGAATTCCAAAGATGGC	0.423																																																	0								ENSG00000100433						121	125	123					14																	88693813		2203	4300	6503	KCNK10	SO:0001583	missense	0			-	HGNC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.572G>A	14.37:g.88693813C>T	ENSP00000343104:p.Gly191Glu	Somatic	0	88	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.G196E	ENST00000340700.5	37	c.587	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523811	0.85600	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.61859	0.07;0.07;0.07	6.17	5.28	0.74379	Ion transport 2 (1);	0.045672	0.85682	D	0.000000	D	0.85392	0.5686	H	0.98218	4.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.91365	0.5115	10	0.87932	D	0	.	17.0009	0.86381	0.1285:0.8715:0.0:0.0	.	191;196;196	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	E	191;196;196	ENSP00000343104:G191E;ENSP00000310568:G196E;ENSP00000312811:G196E	ENSP00000310568:G196E	G	-	2	0	KCNK10	87763566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	1.606000	0.50161	-0.182000	0.12963	GGA	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl		0.423	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	protein_coding	OTTHUMT00000410167.1	C	NM_021161	-		88693813	-1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88693813	C	T	88693813	3	4	203	1	0	0	0	0	1	0	0	0	8061	855	30	2	1060	2	KCNK10	14	88693813	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	10509320	88693813	18655727	322	16352	446	2									
KCNK10	54207	genome.wustl.edu	37	chr14	88693814	88693814	+	Missense_Mutation	SNP	C	C	T													gaaaccaaagagtggaattcCaaagatggcatataaaatac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:88693814C>T	ENST00000340700.5	-	4	1022	c.571G>A	c.(571-573)Gga>Aga	p.G191R	KCNK10_ENST00000312350.5_Missense_Mutation_p.G196R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G196R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	191					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGTGGAATTCCAAAGATGGCA	0.428																																																	0								ENSG00000100433						120	125	123					14																	88693814		2203	4300	6503	KCNK10	SO:0001583	missense	0			-	HGNC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.571G>A	14.37:g.88693814C>T	ENSP00000343104:p.Gly191Arg	Somatic	0	89	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.G196R	ENST00000340700.5	37	c.586	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.213041	0.95069	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.61627	0.09;0.09;0.09	6.17	6.17	0.99709	Ion transport 2 (1);	0.045672	0.85682	D	0.000000	D	0.86514	0.5951	H	0.98218	4.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.994;0.996	D	0.90179	0.4241	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	191;196;196	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	191;196;196	ENSP00000343104:G191R;ENSP00000310568:G196R;ENSP00000312811:G196R	ENSP00000310568:G196R	G	-	1	0	KCNK10	87763567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl		0.428	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	protein_coding	OTTHUMT00000410167.1	C	NM_021161	-		88693814	-1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88693814	C	T	88693814	3	4	203	1	0	0	0	0	1	0	0	0	8061	603	21	2	1061	2	KCNK10	14	88693814	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	88693814	18655726	323	16353	446	2									
RIN3	79890	genome.wustl.edu	37	chr14	93119342	93119342	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattcgcaccatgatgaccCagctcaagagctacctgctg	9	13	1	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:93119342C>T	ENST00000216487.7	+	6	2107	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	650	Interaction with RAB5B.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CATGATGACCCAGCTCAAGAG	0.637																																																	0								ENSG00000100599						44	37	39					14																	93119342		2203	4300	6503	RIN3	SO:0001587	stop_gained	0			-	HGNC	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1948C>T	14.37:g.93119342C>T	ENSP00000216487:p.Gln650*	Somatic	0	26	0		0.41568620468393	55	3.51	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Nonsense_Mutation	SNP							pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.Q650*	ENST00000216487.7	37	c.1948	CCDS32144.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.042801|9.042801	0.99046|0.99046	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	.|.	.|.	.|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76601|.	0.4010|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80460|.	-0.1373|.	4|.	.|0.66056	.|D	.|0.02	-16.3007|-16.3007	17.4162|17.4162	0.87500|0.87500	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	166|650;574	.|.	.|ENSP00000216487:Q650X	P|Q	+|+	2|1	0|0	RIN3|RIN3	92189095|92189095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.681000|7.681000	0.84073|0.84073	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	CCA|CAG	-	NULL		0.637	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	protein_coding	OTTHUMT00000412269.1	C		-		93119342	1	no_errors	ENST00000216487	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	93119342	C	T	93119342	4	4	203	1	0	0	0	0	0	1	0	0	13381	595	21	2	1970	2	RIN3	14	93119342	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4425528	93119342	14230198	324	16354											
C14orf109	64112	genome.wustl.edu	37	chr14	93652900	93652900	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcttgtacaagagctgatCccaaaacagtgggctactgt	9	10	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:93652900C>T	ENST00000556883.1	-	0	0				TMEM251_ENST00000283534.4_Missense_Mutation_p.P94S|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000415050.2_Missense_Mutation_p.P132S			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		AAGAGCTGATCCCAAAACAGT	0.418																																																	0								ENSG00000153485						175	168	170					14																	93652900		1924	4128	6052	TMEM251	SO:0001631	upstream_gene_variant	0			-	HGNC	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652900C>T	Exception_encountered	Somatic	0	64	0		0.41568620468393	70	21.35	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP							NULL	p.P132S	ENST00000556883.1	37	c.394	CCDS9908.1	14	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774703	0.90108	.	.	ENSG00000153485	ENST00000283534;ENST00000415050	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.29908	0.895	0.80722	D	1	D	0.61080	0.989	D	0.63957	0.92	T	0.68938	-0.5277	9	0.87932	D	0	-13.9157	20.2526	0.98410	0.0:1.0:0.0:0.0	.	126	Q8N6I4	CN109_HUMAN	S	94;132	.	ENSP00000283534:P94S	P	+	1	0	C14orf109	92722653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.670000	0.83925	2.789000	0.95967	0.558000	0.71614	CCC	-	NULL		0.418	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM251	protein_coding	OTTHUMT00000412685.1	C		-		93652900	1	no_errors	ENST00000415050	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93652900	C	T	93652900	1	4	203	0	1	0	0	0	0	0	0	0	1741	855	30	2		2	C14orf109	14	93652900	5'Flank	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	533558	93652900	13696640	325	16355											
SERPINA1	5265	genome.wustl.edu	37	chr14	94847281	94847281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggtgctgtagtttccCctcatcaggcaggaagaaga	11	10	2	2	rs370923940		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:94847281C>T	ENST00000448921.1	-	5	1416	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	SERPINA1_ENST00000437397.1_Missense_Mutation_p.G282R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G282R|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G282R|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G282R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G282R|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G282R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G282R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G282R	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	282					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGTAGTTTCCCCTCATCAGGC	0.498																																																	0								ENSG00000197249	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	152	142	146		844,844,844,844,844,844,844,844,844,844,844	5.1	0	14		146	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SERPINA1	NM_000295.4,NM_001002235.2,NM_001002236.2,NM_001127700.1,NM_001127701.1,NM_001127702.1,NM_001127703.1,NM_001127704.1,NM_001127705.1,NM_001127706.1,NM_001127707.1	125,125,125,125,125,125,125,125,125,125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/419,282/419,282/419,282/419,282/419,282/419,282/419,282/419,282/419,282/419,282/419	94847281	1,13005	2203	4300	6503	SERPINA1	SO:0001583	missense	0			-	HGNC	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.844G>A	14.37:g.94847281C>T	ENSP00000416066:p.Gly282Arg	Somatic	0	66	0		0.41568620468393	141	2.76	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	53	27.40	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G282R	ENST00000448921.1	37	c.844	CCDS9925.1	14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024621	0.75390	2.27E-4	0.0	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.05	5.05	0.67936	Serpin domain (3);	0.000000	0.64402	D	0.000004	D	0.92873	0.7733	M	0.76938	2.355	0.58432	D	0.999995	P;D	0.69078	0.854;0.997	P;D	0.63877	0.46;0.919	D	0.93723	0.7034	10	0.87932	D	0	.	17.5559	0.87889	0.0:1.0:0.0:0.0	.	282;282	P01009-2;P01009	.;A1AT_HUMAN	R	282	ENSP00000390299:G282R;ENSP00000416066:G282R;ENSP00000408474:G282R;ENSP00000348068:G282R;ENSP00000376802:G282R;ENSP00000376803:G282R;ENSP00000385960:G282R;ENSP00000416354:G282R;ENSP00000386094:G282R	ENSP00000348068:G282R	G	-	1	0	SERPINA1	93917034	0.199000	0.23386	0.039000	0.18376	0.026000	0.11368	3.375000	0.52410	2.536000	0.85505	0.455000	0.32223	GGG	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.498	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	protein_coding	OTTHUMT00000317768.2	C	NM_001002235	-		94847281	-1	no_errors	ENST00000355814	ensembl	human	known	74_37	missense	SNP	0.976	T	T	94847281	C	T	94847281	3	4	203	1	0	0	0	0	1	0	0	0	14094	623	22	2	424	2	SERPINA1	14	94847281	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1194381	94847281	12502259	326	16356											
PPP2R5C	5527	genome.wustl.edu	37	chr14	102359442	102359442	+	Silent	SNP	C	C	G													tctctgagtgtctaccatccCcaggtaaggggcagcaggac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:102359442C>G	ENST00000334743.5	+	7	843	c.795C>G	c.(793-795)ccC>ccG	p.P265P	PPP2R5C_ENST00000557095.1_Silent_p.P265P|PPP2R5C_ENST00000328724.5_Silent_p.P320P|PPP2R5C_ENST00000445439.3_Silent_p.P265P|PPP2R5C_ENST00000350249.3_Silent_p.P265P|PPP2R5C_ENST00000422945.2_Silent_p.P296P	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	265					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTACCATCCCCAGGTAAGGG	0.438																																																	0								ENSG00000078304						66	61	62					14																	102359442		2203	4300	6503	PPP2R5C	SO:0001819	synonymous_variant	0			-	HGNC	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.795C>G	14.37:g.102359442C>G		Somatic	0	55	0		0.41568620468393	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Silent	SNP							pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.P296	ENST00000334743.5	37	c.888	CCDS9964.1	14																																																																																			-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.438	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	protein_coding	OTTHUMT00000414373.2	C	NM_002719	-		102359442	1	no_errors	ENST00000422945	ensembl	human	known	74_37	silent	SNP	0.210	G	G	102359442	C	G	102359442	2	3	203	1	0	0	0	0	0	0	0	1	12399	610	22	4		4	PPP2R5C	14	102359442	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7512161	102359442	4990098	327	16357	447	2									
PPP2R5C	5527	genome.wustl.edu	37	chr14	102359443	102359443	+	Nonsense_Mutation	SNP	C	C	T													ctctgagtgtctaccatcccCaggtaaggggcagcaggact							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:102359443C>T	ENST00000334743.5	+	7	844	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.Q266*|PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.Q321*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.Q266*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.Q266*|PPP2R5C_ENST00000422945.2_Nonsense_Mutation_p.Q297*	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	266					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTACCATCCCCAGGTAAGGGG	0.438																																																	0								ENSG00000078304						64	59	61					14																	102359443		2203	4300	6503	PPP2R5C	SO:0001587	stop_gained	0			-	HGNC	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.796C>T	14.37:g.102359443C>T	ENSP00000333905:p.Gln266*	Somatic	0	56	0		0.41568620468393	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Nonsense_Mutation	SNP							pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.Q297*	ENST00000334743.5	37	c.889	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.163614	0.97338	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.467	19.3508	0.94384	0.0:1.0:0.0:0.0	.	.	.	.	X	297;321;295;266;164;266;266;266;62	.	ENSP00000329009:Q321X	Q	+	1	0	PPP2R5C	101429196	1.000000	0.71417	0.974000	0.42286	0.880000	0.50808	7.776000	0.85560	2.567000	0.86603	0.591000	0.81541	CAG	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.438	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	protein_coding	OTTHUMT00000414373.2	C	NM_002719	-		102359443	1	no_errors	ENST00000422945	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	102359443	C	T	102359443	4	4	203	1	0	0	0	0	0	1	0	0	12399	595	21	2	1191	2	PPP2R5C	14	102359443	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	102359443	4990097	328	16358	447	2									
KIF26A	26153	genome.wustl.edu	37	chr14	104639375	104639375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggcatcgtgccctgCgccatctcctggctcttcag	11	16	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr14:104639375C>T	ENST00000423312.2	+	8	1482	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	KIF26A_ENST00000315264.7_Silent_p.C355C	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	494	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TCGTGCCCTGCGCCATCTCCT	0.687																																																	0								ENSG00000066735						21	27	25					14																	104639375		2118	4212	6330	KIF26A	SO:0001819	synonymous_variant	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1482C>T	14.37:g.104639375C>T		Somatic	0	37	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.C494	ENST00000423312.2	37	c.1482	CCDS45171.1	14																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.687	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	C		-		104639375	1	no_errors	ENST00000423312	ensembl	human	known	74_37	silent	SNP	0.984	T	T	104639375	C	T	104639375	2	4	203	1	0	0	0	0	0	0	0	1	8296	776	27	1		1	KIF26A	14	104639375	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2279932	104639375	2710165	329	16359											
MEIS2	4212	genome.wustl.edu	37	chr15	37242598	37242598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctcttcggaagggtacgGatgctaatggaaaaacaaat	11	7	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:37242598G>A	ENST00000561208.1	-	9	1322	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S	MEIS2_ENST00000397620.2_Missense_Mutation_p.P214S|MEIS2_ENST00000557796.2_Missense_Mutation_p.P289S|MEIS2_ENST00000340545.5_Missense_Mutation_p.P289S|MEIS2_ENST00000559085.1_Missense_Mutation_p.P289S|MEIS2_ENST00000559561.1_Missense_Mutation_p.P302S|MEIS2_ENST00000382766.2_Missense_Mutation_p.P302S|MEIS2_ENST00000219869.9_Missense_Mutation_p.P156S|MEIS2_ENST00000397624.3_Missense_Mutation_p.P214S|MEIS2_ENST00000338564.5_Missense_Mutation_p.P302S|MEIS2_ENST00000424352.2_Missense_Mutation_p.P302S|MEIS2_ENST00000444725.1_Missense_Mutation_p.P302S			O14770	MEIS2_HUMAN	Meis homeobox 2	302					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GAAGGGTACGGATGCTAATGG	0.373																																																	0								ENSG00000134138						173	164	167					15																	37242598		2201	4297	6498	MEIS2	SO:0001583	missense	0			-	HGNC	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.904C>T	15.37:g.37242598G>A	ENSP00000453793:p.Pro302Ser	Somatic	0	70	0		0.41568620468393	14	26.32	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P302S	ENST00000561208.1	37	c.904	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706889	0.68615	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62;-2.1;-5.62;-5.62	5.49	5.49	0.81192	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.103326	0.64402	D	0.000002	D	0.99612	0.9859	H	0.94620	3.56	0.80722	D	1	P;D;D;D;D;D;D;D	0.89917	0.95;0.985;0.998;0.987;1.0;0.998;1.0;0.975	P;P;D;P;D;D;D;D	0.97110	0.859;0.868;0.98;0.858;0.999;0.971;1.0;0.919	D	0.98206	1.0470	10	0.54805	T	0.06	-1.0548	19.5721	0.95425	0.0:0.0:1.0:0.0	.	289;302;302;302;302;156;214;289	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	S	302;302;302;302;302;289;289;214;156	ENSP00000341400:P302S;ENSP00000372216:P302S;ENSP00000404185:P302S;ENSP00000391887:P302S;ENSP00000339549:P289S;ENSP00000380749:P289S;ENSP00000380745:P214S;ENSP00000219869:P156S	ENSP00000219869:P156S	P	-	1	0	MEIS2	35029890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.857000	0.98124	0.650000	0.86243	CCG	-	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.373	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	protein_coding	OTTHUMT00000252003.2	G	NM_170677	-		37242598	-1	no_errors	ENST00000561208	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37242598	G	A	37242598	3	1	203	1	0	0	0	0	1	0	0	0	9470	1174	41	2	608	2	MEIS2	15	37242598	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		37242598	65288794	330	16360											
DISP2	85455	genome.wustl.edu	37	chr15	40661929	40661929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatggtccgtgctgttccCggcccccaccagcccctgcc	10	19	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:40661929C>A	ENST00000267889.3	+	8	3703	c.3616C>A	c.(3616-3618)Cgg>Agg	p.R1206R	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1206					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGCTGTTCCCGGCCCCCACC	0.647																																																	0								ENSG00000140323						40	45	43					15																	40661929		2203	4299	6502	DISP2	SO:0001819	synonymous_variant	0			-	HGNC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3616C>A	15.37:g.40661929C>A		Somatic	0	60	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.43	Q6AHW3|Q9C0C1	Silent	SNP							pfscan_SSD	p.R1206	ENST00000267889.3	37	c.3616	CCDS10056.1	15																																																																																			-	NULL		0.647	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	protein_coding	OTTHUMT00000252249.1	C	NM_033510	-		40661929	1	no_errors	ENST00000267889	ensembl	human	known	74_37	silent	SNP	0.023	A	A	40661929	C	A	40661929	2	1	203	1	0	0	0	0	0	0	0	1	4542	643	23	3		3	DISP2	15	40661929	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3419331	40661929	61869463	331	16361											
CASC5	57082	genome.wustl.edu	37	chr15	40913904	40913904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactatttattccggagAggagaacatggacattacca	9	7	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:40913904A>G	ENST00000346991.5	+	11	1910	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.E481G			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	507	Interaction with BUB1 and BUB1B.				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)		TATTCCGGAGAGGAGAACATG	0.358																																																	0								ENSG00000137812						50	49	49					15																	40913904		1862	4093	5955	CASC5	SO:0001583	missense	0			-	HGNC	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.1520A>G	15.37:g.40913904A>G	ENSP00000335463:p.Glu507Gly	Somatic	0	43	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP							NULL	p.E507G	ENST00000346991.5	37	c.1520	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935273	0.34189	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.21361	2.01;2.01	5.94	5.94	0.96194	.	0.118602	0.37809	N	0.001921	T	0.36552	0.0971	L	0.39898	1.24	0.32474	N	0.542415	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.964;0.964;0.974	T	0.46721	-0.9171	10	0.59425	D	0.04	.	13.3885	0.60809	0.8693:0.1307:0.0:0.0	.	481;507;481	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	507;481;481	ENSP00000335463:E507G;ENSP00000382576:E481G	ENSP00000260369:E481G	E	+	2	0	CASC5	38701196	0.748000	0.28294	1.000000	0.80357	0.764000	0.43329	1.289000	0.33307	2.269000	0.75478	0.455000	0.32223	GAG	-	NULL		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	protein_coding	OTTHUMT00000390224.2	A	NM_144508	-		40913904	1	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	SNP	0.991	G	G	40913904	A	G	40913904	3	3	203	1	0	0	0	0	1	0	0	0	2665	304	11	5	1558	5	CASC5	15	40913904	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	251975	40913904	61617488	332	16362											
TYRO3	7301	genome.wustl.edu	37	chr15	41854857	41854857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgttaccattgtctggtGgagaggaactacgaagatcg	12	8	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:41854857G>A	ENST00000263798.3	+	4	745	c.521G>A	c.(520-522)tGg>tAg	p.W174*	TYRO3_ENST00000559066.1_Nonsense_Mutation_p.W129*	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	174	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)		ATTGTCTGGTGGAGAGGAACT	0.552																																																	0								ENSG00000092445						65	60	62					15																	41854857		2203	4300	6503	TYRO3	SO:0001587	stop_gained	0			-	HGNC	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.521G>A	15.37:g.41854857G>A	ENSP00000263798:p.Trp174*	Somatic	0	102	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	70	23.91	O14953|Q86VR3	Nonsense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W174*	ENST00000263798.3	37	c.521	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	g	36	5.911855	0.97093	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	4.8	4.8	0.61643	.	0.000000	0.36628	N	0.002492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.8229	18.0396	0.89315	0.0:0.0:1.0:0.0	.	.	.	.	X	106;174	.	ENSP00000263798:W174X	W	+	2	0	TYRO3	39642149	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.701000	0.84566	2.481000	0.83766	0.472000	0.43445	TGG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.552	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	protein_coding	OTTHUMT00000252693.2	G		-		41854857	1	no_errors	ENST00000263798	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	41854857	G	A	41854857	4	1	203	1	0	0	0	0	0	1	0	0	16821	1357	47	2	535	2	TYRO3	15	41854857	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	940953	41854857	60676535	333	16363											
CAPN3	825	genome.wustl.edu	37	chr15	42678474	42678474	+	Silent	SNP	C	C	T													gaaaactacgcagggatcttCcacttccaggtgaggtaatg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:42678474C>T	ENST00000397163.3	+	3	708	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CAPN3_ENST00000357568.3_Silent_p.F163F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.F76F|CAPN3_ENST00000318023.7_Silent_p.F163F|CAPN3_ENST00000349748.3_Silent_p.F163F	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	163	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGGGATCTTCCACTTCCAGG	0.542																																																	0								ENSG00000092529						115	99	104					15																	42678474		2203	4299	6502	CAPN3	SO:0001819	synonymous_variant	0			-	HGNC	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.489C>T	15.37:g.42678474C>T		Somatic	0	42	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.F163	ENST00000397163.3	37	c.489	CCDS45245.1	15																																																																																			-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	protein_coding	OTTHUMT00000421075.1	C		-		42678474	1	no_errors	ENST00000397163	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42678474	C	T	42678474	2	4	203	1	0	0	0	0	0	0	0	1	2630	854	30	2		2	CAPN3	15	42678474	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	823617	42678474	59852918	334	16364	448	2									
CAPN3	825	genome.wustl.edu	37	chr15	42678475	42678475	+	Missense_Mutation	SNP	C	C	T													aaaactacgcagggatcttcCacttccaggtgaggtaatga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:42678475C>T	ENST00000397163.3	+	3	709	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	CAPN3_ENST00000357568.3_Missense_Mutation_p.H164Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.H77Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H164Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.H164Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	164	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGGGATCTTCCACTTCCAGGT	0.537																																																	0								ENSG00000092529						113	98	103					15																	42678475		2203	4299	6502	CAPN3	SO:0001583	missense	0			-	HGNC	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.490C>T	15.37:g.42678475C>T	ENSP00000380349:p.His164Tyr	Somatic	0	42	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.H164Y	ENST00000397163.3	37	c.490	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.341464	0.95783	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	6.07	6.07	0.98685	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.96990	0.9017	H	0.97440	4.005	0.80722	D	1	P;D;D;D;D;D	0.89917	0.95;0.989;1.0;1.0;1.0;0.99	P;P;D;D;D;D	0.97110	0.577;0.831;1.0;0.998;1.0;0.917	D	0.97465	1.0037	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	77;77;164;164;164;77	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Y	77;164;164;164;164	ENSP00000348667:H77Y;ENSP00000380349:H164Y;ENSP00000350181:H164Y;ENSP00000183936:H164Y;ENSP00000326281:H164Y	ENSP00000326281:H164Y	H	+	1	0	CAPN3	40465767	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.763000	0.85283	2.890000	0.99128	0.650000	0.86243	CAC	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	protein_coding	OTTHUMT00000421075.1	C		-		42678475	1	no_errors	ENST00000397163	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42678475	C	T	42678475	3	4	203	1	0	0	0	0	1	0	0	0	2630	594	21	2	552	2	CAPN3	15	42678475	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	42678475	59852917	335	16365	448	2									
MAP1A	4130	genome.wustl.edu	37	chr15	43814473	43814473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agattgtgcgtgtgctttttCcaggaaatgctccccaaaac	9	10	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:43814473C>T	ENST00000300231.5	+	4	1252	c.802C>T	c.(802-804)Cca>Tca	p.P268S	MAP1A_ENST00000399453.1_Missense_Mutation_p.P268S|MAP1A_ENST00000382031.1_Missense_Mutation_p.P506S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	268					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTGCTTTTTCCAGGAAATGC	0.542																																																	0								ENSG00000166963						78	78	78					15																	43814473		1955	4133	6088	MAP1A	SO:0001583	missense	0			-	HGNC	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.802C>T	15.37:g.43814473C>T	ENSP00000300231:p.Pro268Ser	Somatic	0	50	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP							NULL	p.P268S	ENST00000300231.5	37	c.802	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017601	0.54576	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.04083	3.71;3.71;3.71	5.07	5.07	0.68467	.	0.000000	0.33670	N	0.004661	T	0.23611	0.0571	M	0.86420	2.815	0.80722	D	1	P	0.50443	0.935	P	0.58210	0.835	T	0.01583	-1.1319	10	0.87932	D	0	-8.8513	18.6371	0.91383	0.0:1.0:0.0:0.0	.	268	P78559	MAP1A_HUMAN	S	506;268;268;268	ENSP00000371462:P506S;ENSP00000382380:P268S;ENSP00000300231:P268S	ENSP00000300231:P268S	P	+	1	0	MAP1A	41601765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.653000	0.90120	0.561000	0.74099	CCA	-	NULL		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	protein_coding	OTTHUMT00000132894.5	C	NM_002373	-		43814473	1	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43814473	C	T	43814473	3	4	203	1	0	0	0	0	1	0	0	0	9229	855	30	2	804	2	MAP1A	15	43814473	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1135998	43814473	58716919	336	16366											
SPG11	80208	genome.wustl.edu	37	chr15	44925817	44925817	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaatttactgtgtccagctGacgattttctatcccggcct	8	11	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:44925817G>A	ENST00000261866.7	-	8	1637	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	SPG11_ENST00000559193.1_Nonsense_Mutation_p.Q541*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q541*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q541*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q541*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	541					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)		GTGTCCAGCTGACGATTTTCT	0.318																																																	0								ENSG00000104133						47	49	49					15																	44925817		2198	4298	6496	SPG11	SO:0001587	stop_gained	0			-	HGNC		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.1621C>T	15.37:g.44925817G>A	ENSP00000261866:p.Gln541*	Somatic	0	126	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	71	8.97	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP							NULL	p.Q541*	ENST00000261866.7	37	c.1621	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.594314	0.96602	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.5014	16.685	0.85303	0.0:0.0:1.0:0.0	.	.	.	.	X	541	.	ENSP00000261866:Q541X	Q	-	1	0	SPG11	42713109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.558000	0.82253	2.479000	0.83701	0.655000	0.94253	CAG	-	NULL		0.318	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	G		-		44925817	-1	no_errors	ENST00000261866	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	44925817	G	A	44925817	4	1	203	1	0	0	0	0	0	1	0	0	15048	1299	45	2	5842	2	SPG11	15	44925817	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1111344	44925817	57605575	337	16367											
DUOX1	53905	genome.wustl.edu	37	chr15	45457031	45457031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcatgaccaagaatgtgGaaaaggcctgtcagctcatc	11	10	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:45457031G>A	ENST00000321429.4	+	35	4995	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1176K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1530K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1530					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)		CAAGAATGTGGAAAAGGCCTG	0.572																																																	0								ENSG00000137857						186	178	181					15																	45457031		2198	4298	6496	DUOX1	SO:0001583	missense	0			-	HGNC	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.4588G>A	15.37:g.45457031G>A	ENSP00000317997:p.Glu1530Lys	Somatic	0	68	0		0.41568620468393	16	15.79	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP							pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.E1530K	ENST00000321429.4	37	c.4588	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.148643	0.94603	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.94376	-3.41;-3.41	4.32	4.32	0.51571	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92115	0.5699	10	0.28530	T	0.3	-13.9361	14.3496	0.66691	0.0:0.0:1.0:0.0	.	1530	Q9NRD9	DUOX1_HUMAN	K	1530	ENSP00000317997:E1530K;ENSP00000373689:E1530K	ENSP00000317997:E1530K	E	+	1	0	DUOX1	43244323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.607000	0.98328	2.226000	0.72624	0.561000	0.74099	GAA	-	pfam_Fe_red_NAD-bd_6		0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	G	NM_017434	-		45457031	1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45457031	G	A	45457031	3	1	203	1	0	0	0	0	1	0	0	0	4802	1175	41	2	4718	2	DUOX1	15	45457031	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	531214	45457031	57074361	338	16368											
ATP8B4	79895	genome.wustl.edu	37	chr15	50215658	50215658	+	Missense_Mutation	SNP	G	G	A													gaatagtatctgctcctttgGaataaagctttatctgtcct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:50215658G>A	ENST00000284509.6	-	17	1817	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S559F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	559						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCTCCTTTGGAATAAAGCTT	0.373																																																	0								ENSG00000104043						69	65	66					15																	50215658		2196	4295	6491	ATP8B4	SO:0001583	missense	0			-	HGNC	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1676C>T	15.37:g.50215658G>A	ENSP00000284509:p.Ser559Phe	Somatic	0	79	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03	Q9H727	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S559F	ENST00000284509.6	37	c.1676	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897852	0.52227	.	.	ENSG00000104043	ENST00000284509	D	0.82526	-1.62	4.93	1.54	0.23209	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.449057	0.22048	N	0.065360	D	0.88351	0.6413	M	0.86097	2.795	0.35412	D	0.792505	P	0.36222	0.544	P	0.47705	0.555	D	0.92210	0.5775	10	0.87932	D	0	.	14.278	0.66194	0.0:0.6405:0.3595:0.0	.	559	Q8TF62	AT8B4_HUMAN	F	559	ENSP00000284509:S559F	ENSP00000284509:S559F	S	-	2	0	ATP8B4	48002950	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	1.823000	0.39062	0.570000	0.29347	-0.165000	0.13383	TCC	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.373	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	protein_coding	OTTHUMT00000418100.1	G	NM_024837	-		50215658	-1	no_errors	ENST00000284509	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50215658	G	A	50215658	3	1	203	1	0	0	0	0	1	0	0	0	1197	1174	41	2	1950	2	ATP8B4	15	50215658	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4758627	50215658	52315734	339	16369	449	2									
ATP8B4	79895	genome.wustl.edu	37	chr15	50215659	50215659	+	Missense_Mutation	SNP	A	A	C													aatagtatctgctcctttggAataaagctttatctgtcctt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:50215659A>C	ENST00000284509.6	-	17	1816	c.1675T>G	c.(1675-1677)Tcc>Gcc	p.S559A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S559A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	559						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTCCTTTGGAATAAAGCTTT	0.378																																																	0								ENSG00000104043						68	65	66					15																	50215659		2196	4295	6491	ATP8B4	SO:0001583	missense	0			-	HGNC	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1675T>G	15.37:g.50215659A>C	ENSP00000284509:p.Ser559Ala	Somatic	0	81	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	21.67	Q9H727	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S559A	ENST00000284509.6	37	c.1675	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114995	0.56505	.	.	ENSG00000104043	ENST00000284509	D	0.82167	-1.58	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.449057	0.22048	N	0.065360	T	0.79851	0.4517	L	0.54323	1.7	0.31675	N	0.643829	B	0.02656	0.0	B	0.12837	0.008	T	0.80804	-0.1219	10	0.72032	D	0.01	.	12.8303	0.57742	1.0:0.0:0.0:0.0	.	559	Q8TF62	AT8B4_HUMAN	A	559	ENSP00000284509:S559A	ENSP00000284509:S559A	S	-	1	0	ATP8B4	48002951	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.037000	0.93765	1.979000	0.57680	0.533000	0.62120	TCC	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.378	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	protein_coding	OTTHUMT00000418100.1	A	NM_024837	-		50215659	-1	no_errors	ENST00000284509	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50215659	A	C	50215659	3	2	203	1	0	0	0	0	1	0	0	0	1197	246	9	5	1951	5	ATP8B4	15	50215659	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	1	50215659	52315733	340	16370	449	2									
HDC	3067	genome.wustl.edu	37	chr15	50540514	50540514	+	Silent	SNP	C	C	T													cagagtttaacagagcgaaaCcgtcggctcagggggatctg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:50540514C>T	ENST00000267845.3	-	10	1470	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CAGAGCGAAACCGTCGGCTCA	0.532																																					GBM(95;1627 1936 6910 9570)												0								ENSG00000140287						85	76	79					15																	50540514		2196	4295	6491	HDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1068G>A	15.37:g.50540514C>T		Somatic	0	66	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29		Silent	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R356	ENST00000267845.3	37	c.1068	CCDS10134.1	15																																																																																			-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC		0.532	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	C		-		50540514	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	silent	SNP	0.956	T	T	50540514	C	T	50540514	2	4	203	1	0	0	0	0	0	0	0	1	7017	494	18	2		2	HDC	15	50540514	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	324855	50540514	51990878	341	16371	450	2									
HDC	3067	genome.wustl.edu	37	chr15	50540515	50540515	+	Missense_Mutation	SNP	C	C	T													agagtttaacagagcgaaacCgtcggctcagggggatctgc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:50540515C>T	ENST00000267845.3	-	10	1469	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGAGCGAAACCGTCGGCTCAG	0.532																																					GBM(95;1627 1936 6910 9570)												0								ENSG00000140287						84	75	78					15																	50540515		2196	4295	6491	HDC	SO:0001583	missense	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1067G>A	15.37:g.50540515C>T	ENSP00000267845:p.Arg356Gln	Somatic	0	66	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29		Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R356Q	ENST00000267845.3	37	c.1067	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.888796	0.97068	.	.	ENSG00000140287	ENST00000267845	T	0.46819	0.86	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.109619	0.64402	D	0.000006	T	0.80747	0.4682	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.87687	0.2551	10	0.87932	D	0	-26.9886	19.4109	0.94671	0.0:1.0:0.0:0.0	.	356	P19113	DCHS_HUMAN	Q	356	ENSP00000267845:R356Q	ENSP00000267845:R356Q	R	-	2	0	HDC	48327807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.543000	0.82106	2.579000	0.87056	0.650000	0.86243	CGG	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC		0.532	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	C		-		50540515	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50540515	C	T	50540515	3	4	203	1	0	0	0	0	1	0	0	0	7017	652	23	1	933	1	HDC	15	50540515	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	50540515	51990877	342	16372	450	2									
LEO1	123169	genome.wustl.edu	37	chr15	52246731	52246731	+	Frame_Shift_Del	DEL	T	T	-													ctttctttaatttcatttccTtcttcatctcggcgtatcct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:52246731delT	ENST00000299601.5	-	7	1347	c.1287delA	c.(1285-1287)gaafs	p.E429fs	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	429					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)		TTTCATTTCCTTCTTCATCTC	0.388																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0								ENSG00000166477						236	203	214					15																	52246731		2195	4293	6488	LEO1	SO:0001589	frameshift_variant	0				HGNC	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.1287delA	15.37:g.52246731delT	ENSP00000299601:p.Glu429fs	Somatic	0	42	0		0.41568620468393	69	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q96N99	Frame_Shift_Del	DEL							pfam_Leo1	p.G430fs	ENST00000299601.5	37	c.1287	CCDS10146.1	15																																																																																			-	pfam_Leo1		0.388	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	protein_coding	OTTHUMT00000254791.2	T	NM_138792			52246731	-1	no_errors	ENST00000299601	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	52246731	T	-	52246731	7	5	203	1	0	1	0	1	0	0	0	0	8728	1606	56	0	737	0	LEO1	15	52246731	Frame_Shift_Del	DEL	T	TCGA-QQ-A5VD-01A-21D-A32I-09	1706216	52246731	50284661	343	16373	451	2									
LEO1	123169	genome.wustl.edu	37	chr15	52246734	52246734	+	Silent	SNP	T	T	C													tctttaatttcatttccttcTtcatctcggcgtatcctcca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:52246734T>C	ENST00000299601.5	-	7	1344	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	428					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)		CATTTCCTTCTTCATCTCGGC	0.383																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0								ENSG00000166477						234	201	212					15																	52246734		2195	4293	6488	LEO1	SO:0001819	synonymous_variant	0			-	HGNC	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.1284A>G	15.37:g.52246734T>C		Somatic	0	42	0		0.41568620468393	60	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q96N99	Silent	SNP							pfam_Leo1	p.E428	ENST00000299601.5	37	c.1284	CCDS10146.1	15																																																																																			-	pfam_Leo1		0.383	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	protein_coding	OTTHUMT00000254791.2	T	NM_138792	-		52246734	-1	no_errors	ENST00000299601	ensembl	human	known	74_37	silent	SNP	0.997	C	C	52246734	T	C	52246734	2	2	203	1	0	0	0	0	0	0	0	1	8728	1606	56	5		5	LEO1	15	52246734	Silent	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	3	52246734	50284658	344	16374	451	2									
UNC13C	440279	genome.wustl.edu	37	chr15	54305705	54305705	+	Missense_Mutation	SNP	C	C	T													ctcagactcagagttaagcaCcatgaaaaaatcctggggaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:54305705C>T	ENST00000260323.11	+	1	605	c.605C>T	c.(604-606)aCc>aTc	p.T202I	UNC13C_ENST00000537900.1_Missense_Mutation_p.T202I|UNC13C_ENST00000545554.1_Missense_Mutation_p.T202I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	202					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGTTAAGCACCATGAAAAAA	0.458																																																	0								ENSG00000137766						94	93	93					15																	54305705		1846	4086	5932	UNC13C	SO:0001583	missense	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.605C>T	15.37:g.54305705C>T	ENSP00000260323:p.Thr202Ile	Somatic	0	50	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T202I	ENST00000260323.11	37	c.605	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792765	0.31685	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79749	-1.3;-1.3;-1.3	4.97	4.97	0.65823	.	.	.	.	.	T	0.74366	0.3707	N	0.19112	0.55	0.34978	D	0.753859	P	0.44578	0.838	B	0.44315	0.446	D	0.83447	0.0046	9	0.72032	D	0.01	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	202	Q8NB66	UN13C_HUMAN	I	202	ENSP00000260323:T202I;ENSP00000438156:T202I;ENSP00000442569:T202I	ENSP00000260323:T202I	T	+	2	0	UNC13C	52092997	1.000000	0.71417	0.932000	0.37286	0.587000	0.36485	4.816000	0.62642	2.281000	0.76405	0.650000	0.86243	ACC	-	NULL		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166	-		54305705	1	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	SNP	0.995	T	T	54305705	C	T	54305705	3	4	203	1	0	0	0	0	1	0	0	0	16993	507	18	2	607	2	UNC13C	15	54305705	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2058971	54305705	48225687	345	16375	452	2									
UNC13C	440279	genome.wustl.edu	37	chr15	54305706	54305706	+	Silent	SNP	C	C	T													tcagactcagagttaagcacCatgaaaaaatcctggggaat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:54305706C>T	ENST00000260323.11	+	1	606	c.606C>T	c.(604-606)acC>acT	p.T202T	UNC13C_ENST00000537900.1_Silent_p.T202T|UNC13C_ENST00000545554.1_Silent_p.T202T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	202					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTTAAGCACCATGAAAAAAT	0.453																																																	0								ENSG00000137766						95	94	94					15																	54305706		1845	4087	5932	UNC13C	SO:0001819	synonymous_variant	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.606C>T	15.37:g.54305706C>T		Somatic	0	50	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q0P613|Q8ND48|Q96NP3	Silent	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T202	ENST00000260323.11	37	c.606	CCDS45264.1	15																																																																																			-	NULL		0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166	-		54305706	1	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	SNP	0.311	T	T	54305706	C	T	54305706	2	4	203	1	0	0	0	0	0	0	0	1	16993	581	21	2		2	UNC13C	15	54305706	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	54305706	48225686	346	16376	452	2									
LIPC	3990	genome.wustl.edu	37	chr15	58837997	58837997	+	Missense_Mutation	SNP	C	C	T													cccccagcaatcgtctttctCcagatgatgccaattttgtg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:58837997C>T	ENST00000356113.6	+	7	1246	c.631C>T	c.(631-633)Cca>Tca	p.P211S	LIPC_ENST00000414170.3_Missense_Mutation_p.P211S|LIPC_ENST00000433326.2_Missense_Mutation_p.P150S|LIPC_ENST00000299022.5_Missense_Mutation_p.P211S			P11150	LIPC_HUMAN	lipase, hepatic	211					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCGTCTTTCTCCAGATGATGC	0.537																																																	0								ENSG00000166035						98	93	95					15																	58837997		2192	4292	6484	LIPC	SO:0001583	missense	0			-	HGNC		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.631C>T	15.37:g.58837997C>T	ENSP00000348425:p.Pro211Ser	Somatic	0	59	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	39	29.09	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP							pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.P211S	ENST00000356113.6	37	c.631	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413784	0.83449	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.44	5.44	0.79542	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	L	0.57130	1.785	0.80722	D	1	P;D	0.89917	0.798;1.0	P;D	0.97110	0.475;1.0	D	0.94499	0.7708	10	0.59425	D	0.04	.	19.2665	0.93988	0.0:1.0:0.0:0.0	.	150;211	E7EUK6;P11150	.;LIPC_HUMAN	S	211;211;211;150	ENSP00000348425:P211S;ENSP00000395569:P211S;ENSP00000299022:P211S;ENSP00000395002:P150S	ENSP00000299022:P211S	P	+	1	0	LIPC	56625289	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.066000	0.71185	2.548000	0.85928	0.563000	0.77884	CCA	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.537	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	protein_coding	OTTHUMT00000416209.1	C		-		58837997	1	no_errors	ENST00000299022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58837997	C	T	58837997	3	4	203	1	0	0	0	0	1	0	0	0	8822	855	30	2	649	2	LIPC	15	58837997	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4532291	58837997	43693395	347	16377	453	2									
LIPC	3990	genome.wustl.edu	37	chr15	58837998	58837998	+	Missense_Mutation	SNP	C	C	T													ccccagcaatcgtctttctcCagatgatgccaattttgtgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:58837998C>T	ENST00000356113.6	+	7	1247	c.632C>T	c.(631-633)cCa>cTa	p.P211L	LIPC_ENST00000414170.3_Missense_Mutation_p.P211L|LIPC_ENST00000433326.2_Missense_Mutation_p.P150L|LIPC_ENST00000299022.5_Missense_Mutation_p.P211L			P11150	LIPC_HUMAN	lipase, hepatic	211					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CGTCTTTCTCCAGATGATGCC	0.532																																																	0								ENSG00000166035						99	94	96					15																	58837998		2192	4292	6484	LIPC	SO:0001583	missense	0			-	HGNC		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.632C>T	15.37:g.58837998C>T	ENSP00000348425:p.Pro211Leu	Somatic	0	59	0		0.41568620468393	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP							pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.P211L	ENST00000356113.6	37	c.632	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500349	0.85176	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.44	5.44	0.79542	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.954;1.0	D	0.96936	0.9684	10	0.87932	D	0	.	19.2665	0.93988	0.0:1.0:0.0:0.0	.	150;211	E7EUK6;P11150	.;LIPC_HUMAN	L	211;211;211;150	ENSP00000348425:P211L;ENSP00000395569:P211L;ENSP00000299022:P211L;ENSP00000395002:P150L	ENSP00000299022:P211L	P	+	2	0	LIPC	56625290	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	6.072000	0.71238	2.548000	0.85928	0.563000	0.77884	CCA	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	protein_coding	OTTHUMT00000416209.1	C		-		58837998	1	no_errors	ENST00000299022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58837998	C	T	58837998	3	4	203	1	0	0	0	0	1	0	0	0	8822	594	21	2	650	2	LIPC	15	58837998	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	58837998	43693394	348	16378	453	2									
TLN2	83660	genome.wustl.edu	37	chr15	62945393	62945393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaatactccttaatcCaagaaactattgaagaaaag	6	6	0	5			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:62945393C>T	ENST00000561311.1	+	6	627	c.397C>T	c.(397-399)Caa>Taa	p.Q133*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.Q133*			Q9Y4G6	TLN2_HUMAN	talin 2	133	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCCTTAATCCAAGAAACTAT	0.358																																																	0								ENSG00000171914						54	50	51					15																	62945393		2203	4300	6503	TLN2	SO:0001587	stop_gained	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.397C>T	15.37:g.62945393C>T	ENSP00000453508:p.Gln133*	Somatic	0	51	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	A6NLB8	Nonsense_Mutation	SNP							pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.Q133*	ENST00000561311.1	37	c.397	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	40	7.937982	0.98571	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.2852	19.3813	0.94536	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000303476:Q133X	Q	+	1	0	TLN2	60732685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.693000	0.84214	2.824000	0.97209	0.655000	0.94253	CAA	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.358	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	C		-		62945393	1	no_errors	ENST00000306829	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	62945393	C	T	62945393	4	4	203	1	0	0	0	0	0	1	0	0	15955	595	21	2	411	2	TLN2	15	62945393	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4107395	62945393	39585999	349	16379											
DENND4A	10260	genome.wustl.edu	37	chr15	66015249	66015249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttacatggcttctttgGaagtatcttccaggctacat	7	8	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:66015249G>A	ENST00000431932.2	-	12	1733	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	DENND4A_ENST00000443035.3_Missense_Mutation_p.P509S	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	509					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCTTCTTTGGAAGTATCTTC	0.318																																																	0								ENSG00000174485						109	92	97					15																	66015249		1801	4066	5867	DENND4A	SO:0001583	missense	0			-	HGNC	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1525C>T	15.37:g.66015249G>A	ENSP00000396830:p.Pro509Ser	Somatic	0	85	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.71	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.P509S	ENST00000431932.2	37	c.1525	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968831	0.92855	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.11930	2.73;2.79	5.12	5.12	0.69794	.	0.182641	0.53938	N	0.000060	T	0.39655	0.1086	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.23332	-1.0191	10	0.87932	D	0	.	18.9095	0.92477	0.0:0.0:1.0:0.0	.	509;509;509	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	S	509	ENSP00000391167:P509S;ENSP00000396830:P509S	ENSP00000396830:P509S	P	-	1	0	DENND4A	63802303	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.767000	0.98960	2.533000	0.85409	0.655000	0.94253	CCA	-	NULL		0.318	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	protein_coding	OTTHUMT00000419611.1	G	NM_005848	-		66015249	-1	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66015249	G	A	66015249	3	1	203	1	0	0	0	0	1	0	0	0	4435	1174	41	2	4283	2	DENND4A	15	66015249	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3069856	66015249	36516143	350	16380											
BBS4	585	genome.wustl.edu	37	chr15	73029293	73029293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagctgcatacaggaCgctcccctcaggtaggacca	10	14	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:73029293C>T	ENST00000268057.4	+	15	1480	c.1439C>T	c.(1438-1440)aCg>aTg	p.T480M	BBS4_ENST00000395205.2_Missense_Mutation_p.T488M|BBS4_ENST00000539603.1_Missense_Mutation_p.T468M|BBS4_ENST00000542334.1_Missense_Mutation_p.T308M	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	480	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GCATACAGGACGCTCCCCTCA	0.522									Bardet-Biedl syndrome																																								0								ENSG00000140463						111	112	112					15																	73029293		2198	4297	6495	BBS4	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	-	HGNC	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1439C>T	15.37:g.73029293C>T	ENSP00000268057:p.Thr480Met	Somatic	0	31	0		0.41568620468393	48	4	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP							pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T488M	ENST00000268057.4	37	c.1463	CCDS10246.1	15	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871444	0.33069	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.73	2.12	0.27331	.	0.217699	0.48286	D	0.000190	T	0.66416	0.2787	N	0.08118	0	0.22684	N	0.998855	P;P;P	0.52577	0.954;0.954;0.923	B;B;B	0.40782	0.34;0.34;0.118	T	0.62267	-0.6890	10	0.54805	T	0.06	-11.6378	12.8258	0.57718	0.5427:0.4573:0.0:0.0	.	468;488;480	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	M	308;480;468;488	ENSP00000445964:T308M;ENSP00000268057:T480M;ENSP00000442492:T468M;ENSP00000378631:T488M	ENSP00000268057:T480M	T	+	2	0	BBS4	70816346	1.000000	0.71417	0.009000	0.14445	0.739000	0.42172	1.813000	0.38962	0.107000	0.17824	-0.262000	0.10625	ACG	-	NULL		0.522	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	protein_coding	OTTHUMT00000257473.2	C	NM_033028	-		73029293	1	no_errors	ENST00000395205	ensembl	human	known	74_37	missense	SNP	0.713	T	T	73029293	C	T	73029293	3	4	203	1	0	0	0	0	1	0	0	0	1339	536	19	1	1497	1	BBS4	15	73029293	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7014044	73029293	29502099	351	16381											
HCN4	10021	genome.wustl.edu	37	chr15	73617297	73617297	+	Splice_Site	SNP	T	T	G													gggcccagggctgcctcaccTccaaagtaggagccgtcggc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:73617297T>G	ENST00000261917.3	-	6	2970	c.1977A>C	c.(1975-1977)ggA>ggC	p.G659G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	659					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)		CTGCCTCACCTCCAAAGTAGG	0.627																																																	0								ENSG00000138622						48	44	45					15																	73617297		2198	4297	6495	HCN4	SO:0001630	splice_region_variant	0			-	HGNC	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.1978+1A>C	15.37:g.73617297T>G		Somatic	0	36	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	Q9UMQ7	Silent	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.G659	ENST00000261917.3	37	c.1977	CCDS10248.1	15																																																																																			-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.627	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	protein_coding	OTTHUMT00000268900.2	T	NM_005477	-	Silent	73617297	-1	no_errors	ENST00000261917	ensembl	human	known	74_37	silent	SNP	1.000	G	G	73617297	T	G	73617297	5	3	203	1	0	0	0	0	0	0	1	0	7001	1565	54	5	1646	5	HCN4	15	73617297	Splice_Site	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	588004	73617297	28914095	352	16382	454	2									
HCN4	10021	genome.wustl.edu	37	chr15	73617298	73617298	+	Missense_Mutation	SNP	C	C	T													ggcccagggctgcctcacctCcaaagtaggagccgtcggcc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:73617298C>T	ENST00000261917.3	-	6	2969	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	659					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)		TGCCTCACCTCCAAAGTAGGA	0.627																																																	0								ENSG00000138622						48	44	46					15																	73617298		2198	4297	6495	HCN4	SO:0001583	missense	0			-	HGNC	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.1976G>A	15.37:g.73617298C>T	ENSP00000261917:p.Gly659Glu	Somatic	0	36	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	Q9UMQ7	Missense_Mutation	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.G659E	ENST00000261917.3	37	c.1976	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684655	0.68157	.	.	ENSG00000138622	ENST00000261917	D	0.99667	-6.34	3.58	3.58	0.41010	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.99819	0.9920	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96386	0.9285	9	0.87932	D	0	.	15.3802	0.74648	0.0:1.0:0.0:0.0	.	659	Q9Y3Q4	HCN4_HUMAN	E	659	ENSP00000261917:G659E	ENSP00000261917:G659E	G	-	2	0	HCN4	71404351	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.522000	0.81844	1.841000	0.53522	0.491000	0.48974	GGA	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.627	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	protein_coding	OTTHUMT00000268900.2	C	NM_005477	-		73617298	-1	no_errors	ENST00000261917	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73617298	C	T	73617298	3	4	203	1	0	0	0	0	1	0	0	0	7001	855	30	2	1647	2	HCN4	15	73617298	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	73617298	28914094	353	16383	454	2									
LINGO1	84894	genome.wustl.edu	37	chr15	77907555	77907555	+	Missense_Mutation	SNP	C	C	T													cagcctcttgaaggagtagtCccggatggcattgatgttga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:77907555C>T	ENST00000355300.6	-	2	868	c.694G>A	c.(694-696)Gac>Aac	p.D232N	LINGO1_ENST00000561030.1_Missense_Mutation_p.D226N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	232					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGGAGTAGTCCCGGATGGCA	0.592																																																	0								ENSG00000169783						112	122	119					15																	77907555		2174	4268	6442	LINGO1	SO:0001583	missense	0			-	HGNC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.694G>A	15.37:g.77907555C>T	ENSP00000347451:p.Asp232Asn	Somatic	0	29	0		0.41568620468393	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	28	26.32	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D232N	ENST00000355300.6	37	c.694	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423543	0.25639	.	.	ENSG00000169783	ENST00000355300	T	0.54866	0.55	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	L	0.53780	1.695	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.44081	-0.9351	10	0.19590	T	0.45	.	19.3317	0.94293	0.0:1.0:0.0:0.0	.	232	Q96FE5	LIGO1_HUMAN	N	232	ENSP00000347451:D232N	ENSP00000347451:D232N	D	-	1	0	LINGO1	75694610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.999000	0.70665	2.582000	0.87167	0.561000	0.74099	GAC	-	smart_Leu-rich_rpt_typical-subtyp		0.592	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	protein_coding	OTTHUMT00000419546.1	C	NM_032808	-		77907555	-1	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77907555	C	T	77907555	3	4	203	1	0	0	0	0	1	0	0	0	8816	855	30	2	1172	2	LINGO1	15	77907555	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4290257	77907555	24623837	354	16384	455	2									
LINGO1	84894	genome.wustl.edu	37	chr15	77907556	77907556	+	Silent	SNP	C	C	T													agcctcttgaaggagtagtcCcggatggcattgatgttgag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:77907556C>T	ENST00000355300.6	-	2	867	c.693G>A	c.(691-693)cgG>cgA	p.R231R	LINGO1_ENST00000561030.1_Silent_p.R225R	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	231					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGAGTAGTCCCGGATGGCAT	0.592																																																	0								ENSG00000169783						111	121	118					15																	77907556		2174	4268	6442	LINGO1	SO:0001819	synonymous_variant	0			-	HGNC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.693G>A	15.37:g.77907556C>T		Somatic	0	29	0		0.41568620468393	13	13.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R231	ENST00000355300.6	37	c.693	CCDS45313.1	15																																																																																			-	smart_Leu-rich_rpt_typical-subtyp		0.592	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	protein_coding	OTTHUMT00000419546.1	C	NM_032808	-		77907556	-1	no_errors	ENST00000355300	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77907556	C	T	77907556	2	4	203	1	0	0	0	0	0	0	0	1	8816	610	22	2		2	LINGO1	15	77907556	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	77907556	24623836	355	16385	455	2									
EFTUD1	79631	genome.wustl.edu	37	chr15	82444423	82444423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtcttctgatgaatcAtgtgagtattttcaccctca	8	9	5	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:82444423A>G	ENST00000268206.7	-	18	2540	c.2372T>C	c.(2371-2373)aTg>aCg	p.M791T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.M740T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	791					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)			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						CTGATGAATCATGTGAGTATT	0.408																																																	0								ENSG00000140598						94	86	89					15																	82444423		1845	4099	5944	EFTUD1	SO:0001583	missense	0			-	HGNC	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.2372T>C	15.37:g.82444423A>G	ENSP00000268206:p.Met791Thr	Somatic	0	43	0		0.41568620468393	7	50	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP							pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.M791T	ENST00000268206.7	37	c.2372	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.101217	0.00360	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.26957	1.7;1.7	5.94	-0.787	0.10943	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	3.010640	0.01413	N	0.014073	T	0.12561	0.0305	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	0.16276	-1.0408	10	0.15499	T	0.54	-10.8567	5.2591	0.15563	0.2291:0.0:0.3345:0.4364	.	740;791	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	T	791;740	ENSP00000268206:M791T;ENSP00000352418:M740T	ENSP00000268206:M791T	M	-	2	0	EFTUD1	80231478	0.007000	0.16637	0.000000	0.03702	0.018000	0.09664	0.787000	0.26858	-0.153000	0.11137	0.460000	0.39030	ATG	-	superfamily_Ribosomal_S5_D2-typ_fold		0.408	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	protein_coding	OTTHUMT00000419252.1	A	NM_024580	-		82444423	-1	no_errors	ENST00000268206	ensembl	human	known	74_37	missense	SNP	0.000	G	G	82444423	A	G	82444423	3	3	203	1	0	0	0	0	1	0	0	0	4962	217	8	5	1002	5	EFTUD1	15	82444423	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	4536867	82444423	20086969	356	16386											
ZSCAN2	54993	genome.wustl.edu	37	chr15	85165025	85165025	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagaagccctacaaatgcctCatgtgcggcaagagcttcag	11	11	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:85165025C>T	ENST00000448803.2	+	3	1891	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.L533L|ZSCAN2_ENST00000327179.6_Silent_p.L532L|ZSCAN2_ENST00000358472.3_Silent_p.L383L	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	533					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACAAATGCCTCATGTGCGGCA	0.592																																																	0								ENSG00000176371						105	108	107					15																	85165025		2203	4299	6502	ZSCAN2	SO:0001819	synonymous_variant	0			-	HGNC	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1599C>T	15.37:g.85165025C>T		Somatic	0	42	0		0.41568620468393	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L533	ENST00000448803.2	37	c.1599	CCDS10329.2	15																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	protein_coding	OTTHUMT00000396956.1	C	NM_017894	-		85165025	1	no_errors	ENST00000448803	ensembl	human	known	74_37	silent	SNP	0.249	T	T	85165025	C	T	85165025	2	4	203	1	0	0	0	0	0	0	0	1	18238	813	29	2		2	ZSCAN2	15	85165025	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2720602	85165025	17366367	357	16387											
TTLL13	440307	genome.wustl.edu	37	chr15	90799449	90799449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagacagtggctgtcagGgacgtggcatcttcattacc	12	11	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr15:90799449G>A	ENST00000339615.5	+	6	915	c.625G>A	c.(625-627)Gga>Aga	p.G209R	TTLL13_ENST00000438251.1_Missense_Mutation_p.G209R|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGGCTGTCAGGGACGTGGCAT	0.547																																																	0								ENSG00000213471						99	94	96					15																	90799449		2199	4298	6497	TTLL13	SO:0001583	missense	0			-	HGNC	BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.625G>A	15.37:g.90799449G>A	ENSP00000345294:p.Gly209Arg	Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22		Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.G209R	ENST00000339615.5	37	c.625	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.109563	0.94292	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.18016	2.24;2.24	5.09	5.09	0.68999	.	0.154217	0.45361	D	0.000379	T	0.63070	0.2480	H	0.99074	4.42	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.80188	-0.1486	10	0.87932	D	0	.	17.6537	0.88172	0.0:0.0:1.0:0.0	.	209	A6NNM8-2	.	R	209	ENSP00000413362:G209R;ENSP00000345294:G209R	ENSP00000345294:G209R	G	+	1	0	TTLL13	88600453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.046000	0.93817	2.658000	0.90341	0.491000	0.48974	GGA	-	pfam_TTL/TTLL_fam		0.547	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	protein_coding	OTTHUMT00000435854.1	G	NM_001029964	-		90799449	1	no_errors	ENST00000438251	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90799449	G	A	90799449	3	1	203	1	0	0	0	0	1	0	0	0	16733	1233	43	2	643	2	TTLL13	15	90799449	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5634424	90799449	11731943	358	16388											
TBL3	10607	genome.wustl.edu	37	chr16	2027654	2027654	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactggggccagtgactccCgagtcatcctctggaaggtt	12	12	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:2027654C>T	ENST00000568546.1	+	17	2010	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	628					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGTGACTCCCGAGTCATCCT	0.652																																					Melanoma(118;616 1651 35077 38081 48633)												0								ENSG00000183751						31	34	33					16																	2027654		2151	4209	6360	TBL3	SO:0001587	stop_gained	0			-	HGNC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1882C>T	16.37:g.2027654C>T	ENSP00000454836:p.Arg628*	Somatic	0	54	0		0.41568620468393	89	4.3	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	Q59GD6|Q8IVB7|Q96A78	Nonsense_Mutation	SNP							pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R628*	ENST00000568546.1	37	c.1882	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.353536	0.97498	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.54	-1.21	0.09524	.	0.634652	0.18146	N	0.150255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.9817	6.7648	0.23560	0.0:0.3893:0.1236:0.4871	.	.	.	.	X	628	.	ENSP00000331815:R628X	R	+	1	2	TBL3	1967655	0.001000	0.12720	0.925000	0.36789	0.840000	0.47671	-0.077000	0.11394	-0.224000	0.09928	0.561000	0.74099	CGA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	protein_coding	OTTHUMT00000250615.3	C	NM_006453	-		2027654	1	no_errors	ENST00000568546	ensembl	human	known	74_37	nonsense	SNP	0.398	T	T	2027654	C	T	2027654	4	4	203	1	0	0	0	0	0	1	0	0	15650	644	23	1	1948	1	TBL3	16	2027654	Nonsense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		2027654	88327099	359	16389											
SRRM2	23524	genome.wustl.edu	37	chr16	2815847	2815847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctcgtggactccagaggtCccgttcccgctcaaggagag	13	14	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:2815847C>T	ENST00000301740.8	+	11	5867	c.5318C>T	c.(5317-5319)tCc>tTc	p.S1773F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1773	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)			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						CTCCAGAGGTCCCGTTCCCGC	0.582																																																	0								ENSG00000167978						51	54	53					16																	2815847		2198	4300	6498	SRRM2	SO:0001583	missense	0			-	HGNC	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	ENST00000301740.8:c.5318C>T	16.37:g.2815847C>T	ENSP00000301740:p.Ser1773Phe	Somatic	0	100	0		0.41568620468393	52	36.59	30	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	59	26.25	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP							pfam_mRNA_splic_Cwf21	p.S1773F	ENST00000301740.8	37	c.5318	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868451	0.17322	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.36699	1.24	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000013	T	0.41673	0.1169	N	0.08118	0	0.39573	D	0.969305	D	0.71674	0.998	D	0.80764	0.994	T	0.55244	-0.8171	10	0.87932	D	0	-8.7336	16.7967	0.85604	0.0:1.0:0.0:0.0	.	1773	Q9UQ35	SRRM2_HUMAN	F	1773;1773;1025	ENSP00000301740:S1773F	ENSP00000301740:S1773F	S	+	2	0	SRRM2	2755848	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	4.475000	0.60210	2.562000	0.86427	0.650000	0.86243	TCC	-	NULL		0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	C		-		2815847	1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2815847	C	T	2815847	3	4	203	1	0	0	0	0	1	0	0	0	15176	855	30	2	5356	2	SRRM2	16	2815847	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	788193	2815847	87538906	360	16390											
NLRC3	197358	genome.wustl.edu	37	chr16	3614928	3614928	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggcctgggagccttgaCtgcccttcccagccagcaga	14	15	0	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:3614928C>T	ENST00000301749.7	-	0	515				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGCCTTGACTGCCCTTCCC	0.706																																																	0								ENSG00000167984						20	25	24					16																	3614928		1934	4116	6050	NLRC3			0			-	HGNC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614928C>T		Somatic	0	19	0		0.41568620468393	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.S84N	ENST00000301749.7	37	c.251		16	.	.	.	.	.	.	.	.	.	.	C	4.809	0.150408	0.09185	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;D	0.81579	-0.6;-0.64;-0.56;-1.51	4.33	2.19	0.27852	.	0.878451	0.09868	N	0.745297	T	0.64271	0.2583	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49093	-0.8975	9	0.25751	T	0.34	.	3.8534	0.08965	0.0:0.5723:0.2046:0.2232	.	84	C9JLH9	.	N	37;37;37;84;54	ENSP00000301749:S37N;ENSP00000352039:S37N;ENSP00000414415:S84N;ENSP00000323897:S54N	ENSP00000301749:S37N	S	-	2	0	NLRC3	3554929	0.000000	0.05858	0.061000	0.19648	0.100000	0.18952	-0.174000	0.09839	0.833000	0.34828	0.650000	0.86243	AGT	-	NULL		0.706	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	polymorphic_pseudogene		C	NM_178844	-		3614928	-1	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	SNP	0.079	T	T	3614928	C	T	3614928	1	4	203	0	1	0	0	0	0	0	0	0	10470	565	20	2		2	NLRC3	16	3614928	RNA	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	799081	3614928	86739825	361	16391											
PALB2	79728	genome.wustl.edu	37	chr16	23647329	23647329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttttgctactgatttcttCctgttcctttagtcttttcc	4	10	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:23647329C>T	ENST00000261584.4	-	4	690	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	180	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGATTTCTTCCTGTTCCTTT	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0								ENSG00000083093						168	167	168					16																	23647329		2197	4300	6497	PALB2	SO:0001583	missense	0			-	HGNC		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.538G>A	16.37:g.23647329C>T	ENSP00000261584:p.Glu180Lys	Somatic	0	43	0		0.41568620468393	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP							superfamily_WD40_repeat_dom	p.E180K	ENST00000261584.4	37	c.538	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036877	0.35893	.	.	ENSG00000083093	ENST00000261584	T	0.16743	2.32	6.08	1.97	0.26223	.	0.583945	0.17460	N	0.173483	T	0.13884	0.0336	M	0.63428	1.95	0.09310	N	1	B	0.32653	0.379	B	0.28553	0.091	T	0.21314	-1.0249	10	0.25106	T	0.35	-5.317	4.8954	0.13748	0.1484:0.623:0.0:0.2286	.	180	Q86YC2	PALB2_HUMAN	K	180	ENSP00000261584:E180K	ENSP00000261584:E180K	E	-	1	0	PALB2	23554830	0.025000	0.19082	0.001000	0.08648	0.102000	0.19082	0.280000	0.18790	0.154000	0.19237	-0.469000	0.05056	GAA	-	NULL		0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	protein_coding	OTTHUMT00000435287.2	C	NM_024675	-		23647329	-1	no_errors	ENST00000261584	ensembl	human	known	74_37	missense	SNP	0.002	T	T	23647329	C	T	23647329	3	4	203	1	0	0	0	0	1	0	0	0	11408	864	30	2	3062	2	PALB2	16	23647329	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	20032401	23647329	66707424	362	16392											
CLN3	1201	genome.wustl.edu	37	chr16	28497920	28497920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggtagaaggcagtgaggGagaggaaggtgacctcccca	18	7	0	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:28497920G>A	ENST00000569430.1	-	9	1331	c.512C>T	c.(511-513)tCc>tTc	p.S171F	CLN3_ENST00000568224.1_Missense_Mutation_p.S93F|CLN3_ENST00000567963.1_Missense_Mutation_p.S171F|CLN3_ENST00000355477.5_Missense_Mutation_p.S171F|CLN3_ENST00000395653.4_Missense_Mutation_p.S71F|CLN3_ENST00000535392.1_Missense_Mutation_p.S93F|CLN3_ENST00000357857.9_Missense_Mutation_p.S117F|CLN3_ENST00000354630.5_Missense_Mutation_p.S171F|CLN3_ENST00000360019.2_Missense_Mutation_p.S171F|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.S171F|CLN3_ENST00000359984.7_Missense_Mutation_p.S171F|CLN3_ENST00000333496.9_Missense_Mutation_p.S147F			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	171					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGCAGTGAGGGAGAGGAAGGT	0.592																																																	0								ENSG00000188603						86	65	72					16																	28497920		2196	4299	6495	CLN3	SO:0001583	missense	0			-	HGNC	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.512C>T	16.37:g.28497920G>A	ENSP00000454229:p.Ser171Phe	Somatic	0	71	0		0.41568620468393	65	25.56	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP							pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.S171F	ENST00000569430.1	37	c.512	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313632	0.81358	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);	0.221723	0.39687	N	0.001292	T	0.75932	0.3917	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.984;0.999;0.999;0.997;0.999;0.996;0.998	D;D;P;D;D;D;D;D;D	0.76071	0.972;0.975;0.862;0.943;0.987;0.966;0.966;0.957;0.975	T	0.78234	-0.2283	10	0.66056	D	0.02	-8.2826	13.0166	0.58762	0.0:0.1618:0.8381:0.0	.	71;147;171;171;222;117;71;171;171	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95086;B4DMY6;Q13286-2;Q13286	.;.;.;.;.;.;.;.;CLN3_HUMAN	F	93;171;171;171;171;117;71	ENSP00000443221:S93F;ENSP00000353073:S171F;ENSP00000353116:S171F;ENSP00000346650:S171F;ENSP00000347660:S171F;ENSP00000350523:S117F;ENSP00000379014:S71F	ENSP00000346650:S171F	S	-	2	0	CLN3	28405421	0.975000	0.34042	0.996000	0.52242	0.956000	0.61745	5.803000	0.69129	2.716000	0.92895	0.586000	0.80456	TCC	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3		0.592	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	protein_coding	OTTHUMT00000214115.2	G		-		28497920	-1	no_errors	ENST00000359984	ensembl	human	known	74_37	missense	SNP	0.846	A	A	28497920	G	A	28497920	3	1	203	1	0	0	0	0	1	0	0	0	3545	1174	41	2	840	2	CLN3	16	28497920	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4850591	28497920	61856833	363	16393											
PRRT2	112476	genome.wustl.edu	37	chr16	29824915	29824915	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgtaggggaaaagcaagaGaatggggcagtggtgcccct	17	6	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:29824915G>A	ENST00000358758.7	+	2	823	c.540G>A	c.(538-540)gaG>gaA	p.E180E	AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Silent_p.E180E|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Silent_p.E180E	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	180	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AAAAGCAAGAGAATGGGGCAG	0.612																																																	0								ENSG00000167371						26	28	27					16																	29824915		2194	4298	6492	PRRT2	SO:0001819	synonymous_variant	0			-	HGNC	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.540G>A	16.37:g.29824915G>A		Somatic	0	62	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Silent	SNP							pfam_CD225/Dispanin_fam	p.E180	ENST00000358758.7	37	c.540	CCDS10654.1	16																																																																																			-	NULL		0.612	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	protein_coding	OTTHUMT00000255161.3	G	NM_145239	-		29824915	1	no_errors	ENST00000567659	ensembl	human	known	74_37	silent	SNP	0.998	A	A	29824915	G	A	29824915	2	1	203	1	0	0	0	0	0	0	0	1	12615	933	33	2		2	PRRT2	16	29824915	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1326995	29824915	60529838	364	16394											
TOX3	27324	genome.wustl.edu	37	chr16	52473609	52473609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagccaaccatggtcgttCccatggagcttatcagtgga	11	11	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:52473609C>T	ENST00000219746.9	-	7	1543	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	TOX3_ENST00000407228.3_Missense_Mutation_p.G415E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	420					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						CATGGTCGTTCCCATGGAGCT	0.542																																																	0								ENSG00000103460						153	150	151					16																	52473609		2173	4282	6455	TOX3	SO:0001583	missense	0			-	HGNC	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.1259G>A	16.37:g.52473609C>T	ENSP00000219746:p.Gly420Glu	Somatic	0	61	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	45	16.67	B4DRD0|B5MCW4	Missense_Mutation	SNP							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G420E	ENST00000219746.9	37	c.1259	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156177	0.57259	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.11063	2.82;2.81	5.49	4.54	0.55810	.	0.363259	0.28790	N	0.014125	T	0.06508	0.0167	L	0.27053	0.805	0.80722	D	1	P;P	0.38535	0.635;0.635	B;B	0.32805	0.153;0.153	T	0.08493	-1.0719	10	0.02654	T	1	.	14.4399	0.67309	0.0:0.9288:0.0:0.0712	.	415;420	B4DRD0;O15405	.;TOX3_HUMAN	E	420;415	ENSP00000219746:G420E;ENSP00000385705:G415E	ENSP00000219746:G420E	G	-	2	0	TOX3	51031110	1.000000	0.71417	0.862000	0.33874	0.987000	0.75469	7.253000	0.78320	1.308000	0.44962	0.655000	0.94253	GGA	-	NULL		0.542	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	protein_coding	OTTHUMT00000422534.1	C	XM_049037	-		52473609	-1	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	SNP	0.998	T	T	52473609	C	T	52473609	3	4	203	1	0	0	0	0	1	0	0	0	16386	855	30	2	475	2	TOX3	16	52473609	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	22648694	52473609	37881144	365	16395											
CHD9	80205	genome.wustl.edu	37	chr16	53326964	53326964	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatagaaagacagcaaaGgtaagacaataacactaaat	7	6	0	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:53326964G>T	ENST00000398510.3	+	28	5597	c.5510G>T	c.(5509-5511)aGa>aTa	p.R1837I	CHD9_ENST00000566029.1_Splice_Site_p.R1837I|CHD9_ENST00000564845.1_Splice_Site_p.R1837I|CHD9_ENST00000447540.1_Splice_Site_p.R1837I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1837					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGACAGCAAAGGTAAGACAAT	0.378																																																	0								ENSG00000177200						45	39	41					16																	53326964		1867	4107	5974	CHD9	SO:0001630	splice_region_variant	0			-	HGNC	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5510+1G>T	16.37:g.53326964G>T		Somatic	0	44	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1837I	ENST00000398510.3	37	c.5510		16	.	.	.	.	.	.	.	.	.	.	G	31	5.071650	0.93950	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.92911	-3.13;-3.13	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000010	D	0.96528	0.8867	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.71674	0.995;0.998;0.995;0.997	D;D;D;D	0.78314	0.979;0.986;0.979;0.991	D	0.96993	0.9723	10	0.87932	D	0	-14.7544	19.0531	0.93053	0.0:0.0:1.0:0.0	.	205;1837;1837;1837	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	I	1837;1837;205	ENSP00000396345:R1837I;ENSP00000381522:R1837I	ENSP00000381522:R1837I	R	+	2	0	CHD9	51884465	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.322000	0.96357	2.500000	0.84329	0.591000	0.81541	AGA	-	NULL		0.378	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	G	NM_025134	-	Missense_Mutation	53326964	1	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	53326964	G	T	53326964	5	4	203	1	0	0	0	0	0	0	1	0	3334	1014	35	3	5620	3	CHD9	16	53326964	Splice_Site	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	853355	53326964	37027789	366	16396											
GPR97	222487	genome.wustl.edu	37	chr16	57719753	57719753	+	Silent	SNP	G	G	A													ctgctgggcctctcgagcctGgtgggtgtgacatgggggtt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:57719753G>A	ENST00000333493.4	+	11	1616	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	GPR97_ENST00000327655.6_Silent_p.L275L|GPR97_ENST00000450388.3_Silent_p.L365L|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	485					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCGAGCCTGGTGGGTGTGA	0.602																																																	0								ENSG00000182885						110	95	100					16																	57719753		2198	4300	6498	GPR97	SO:0001819	synonymous_variant	0			-	HGNC	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1455G>A	16.37:g.57719753G>A		Somatic	0	58	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.L485	ENST00000333493.4	37	c.1455	CCDS10786.1	16																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.602	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	protein_coding	OTTHUMT00000257333.2	G	NM_170776	-		57719753	1	no_errors	ENST00000333493	ensembl	human	known	74_37	silent	SNP	0.999	A	A	57719753	G	A	57719753	2	1	203	1	0	0	0	0	0	0	0	1	6722	1335	47	2		2	GPR97	16	57719753	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4392789	57719753	32635000	367	16397	456	2									
GPR97	222487	genome.wustl.edu	37	chr16	57719754	57719754	+	Missense_Mutation	SNP	G	G	C													tgctgggcctctcgagcctgGtgggtgtgacatgggggttg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:57719754G>C	ENST00000333493.4	+	11	1617	c.1456G>C	c.(1456-1458)Gtg>Ctg	p.V486L	GPR97_ENST00000327655.6_Missense_Mutation_p.V276L|GPR97_ENST00000450388.3_Missense_Mutation_p.V366L|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	486					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCGAGCCTGGTGGGTGTGAC	0.607																																																	0								ENSG00000182885						111	95	100					16																	57719754		2198	4300	6498	GPR97	SO:0001583	missense	0			-	HGNC	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1456G>C	16.37:g.57719754G>C	ENSP00000332900:p.Val486Leu	Somatic	0	56	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.V486L	ENST00000333493.4	37	c.1456	CCDS10786.1	16	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787506	0.16258	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.24723	1.84;1.84;1.84	5.62	1.29	0.21616	GPCR, family 2-like (1);	0.541334	0.16523	N	0.210712	T	0.07143	0.0181	N	0.01464	-0.85	0.26545	N	0.974018	B	0.09022	0.002	B	0.14023	0.01	T	0.40478	-0.9561	10	0.02654	T	1	.	8.3447	0.32266	0.0654:0.3954:0.4409:0.0983	.	486	Q86Y34	GPR97_HUMAN	L	486;276;366	ENSP00000332900:V486L;ENSP00000331199:V276L;ENSP00000404803:V366L	ENSP00000331199:V276L	V	+	1	0	GPR97	56277255	1.000000	0.71417	0.991000	0.47740	0.352000	0.29268	1.142000	0.31540	-0.182000	0.10602	-0.808000	0.03180	GTG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.607	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	protein_coding	OTTHUMT00000257333.2	G	NM_170776	-		57719754	1	no_errors	ENST00000333493	ensembl	human	known	74_37	missense	SNP	0.999	C	C	57719754	G	C	57719754	3	2	203	1	0	0	0	0	1	0	0	0	6722	1261	44	4	1498	4	GPR97	16	57719754	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	57719754	32634999	368	16398	456	2									
C16orf70	80262	genome.wustl.edu	37	chr16	67174002	67174002	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctctccacacaaagtcttCtataaatcagaagacaaggt	7	10	4	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:67174002C>T	ENST00000219139.3	+	9	965	c.777C>T	c.(775-777)ttC>ttT	p.F259F	C16orf70_ENST00000569600.1_Silent_p.F259F	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	259										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACAAAGTCTTCTATAAATCAG	0.368																																																	0								ENSG00000125149						82	75	78					16																	67174002		2199	4300	6499	C16orf70	SO:0001819	synonymous_variant	0			-	HGNC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.777C>T	16.37:g.67174002C>T		Somatic	0	82	0		0.41568620468393	10	9.09	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	Q9HA86	Silent	SNP							pfam_UPF0183	p.F259	ENST00000219139.3	37	c.777	CCDS10828.1	16																																																																																			-	pfam_UPF0183		0.368	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	protein_coding	OTTHUMT00000268829.2	C	NM_025187	-		67174002	1	no_errors	ENST00000219139	ensembl	human	known	74_37	silent	SNP	1.000	T	T	67174002	C	T	67174002	2	4	203	1	0	0	0	0	0	0	0	1	1831	912	32	2		2	C16orf70	16	67174002	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	9454248	67174002	23180751	369	16399											
E2F4	1874	genome.wustl.edu	37	chr16	67228596	67228596	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacccatctctagggtctcaAtgggcagaagaagtaccaga	10	11	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:67228596A>T	ENST00000379378.3	+	6	580	c.521A>T	c.(520-522)aAt>aTt	p.N174I	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	174	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TAGGGTCTCAATGGGCAGAAG	0.562																																																	0								ENSG00000205250						90	90	90					16																	67228596		2198	4300	6498	E2F4	SO:0001583	missense	0			-	HGNC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.521A>T	16.37:g.67228596A>T	ENSP00000368686:p.Asn174Ile	Somatic	0	38	0		0.41568620468393	87	27.87	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP							pfam_E2F_TDP	p.N174I	ENST00000379378.3	37	c.521	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	A	14.47	2.546045	0.45383	.	.	ENSG00000205250	ENST00000379378	D	0.85861	-2.04	5.72	5.72	0.89469	.	0.043913	0.85682	D	0.000000	D	0.88269	0.6391	L	0.41415	1.275	0.58432	D	0.999999	D	0.71674	0.998	D	0.63488	0.915	D	0.89380	0.3681	10	0.72032	D	0.01	-14.6752	14.8506	0.70295	1.0:0.0:0.0:0.0	.	174	Q16254	E2F4_HUMAN	I	174	ENSP00000368686:N174I	ENSP00000368686:N174I	N	+	2	0	E2F4	65786097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.292000	0.72725	2.189000	0.69895	0.533000	0.62120	AAT	-	NULL		0.562	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	protein_coding	OTTHUMT00000421565.1	A	NM_001950	-		67228596	1	no_errors	ENST00000379378	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67228596	A	T	67228596	3	4	203	1	0	0	0	0	1	0	0	0	4871	101	4	5	543	5	E2F4	16	67228596	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	54594	67228596	23126157	370	16400											
E2F4	1874	genome.wustl.edu	37	chr16	67229880	67229880	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaacccttctacctcctTtgagcccatcaaggcagacc	5	18	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:67229880T>G	ENST00000379378.3	+	7	1063	c.1004T>G	c.(1003-1005)tTt>tGt	p.F335C		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	335					blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCTACCTCCTTTGAGCCCATC	0.592																																																	0								ENSG00000205250						87	88	88					16																	67229880		2198	4300	6498	E2F4	SO:0001583	missense	0			-	HGNC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.1004T>G	16.37:g.67229880T>G	ENSP00000368686:p.Phe335Cys	Somatic	0	117	0		0.41568620468393	117	27.33	44	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	59	29.76	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP							pfam_E2F_TDP	p.F335C	ENST00000379378.3	37	c.1004	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263617	0.80358	.	.	ENSG00000205250	ENST00000379378	D	0.89810	-2.57	5.17	5.17	0.71159	.	0.702414	0.14442	N	0.319352	D	0.91002	0.7170	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.89392	0.3689	10	0.41790	T	0.15	-3.7679	13.8463	0.63470	0.0:0.0:0.0:1.0	.	335	Q16254	E2F4_HUMAN	C	335	ENSP00000368686:F335C	ENSP00000368686:F335C	F	+	2	0	E2F4	65787381	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.326000	0.72905	1.950000	0.56595	0.533000	0.62120	TTT	-	NULL		0.592	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	protein_coding	OTTHUMT00000421565.1	T	NM_001950	-		67229880	1	no_errors	ENST00000379378	ensembl	human	known	74_37	missense	SNP	1.000	G	G	67229880	T	G	67229880	3	3	203	1	0	0	0	0	1	0	0	0	4871	1841	64	5	1030	5	E2F4	16	67229880	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	1284	67229880	23124873	371	16401											
WDR59	79726	genome.wustl.edu	37	chr16	74983665	74983665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagctggtaaccaggaGgtcaggctcaaacaccgccc	11	14	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:74983665G>A	ENST00000262144.6	-	5	488	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	WDR59_ENST00000562331.1_5'Flank	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	120										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTAACCAGGAGGTCAGGCTCA	0.463																																																	0								ENSG00000103091						95	86	89					16																	74983665		2198	4300	6498	WDR59	SO:0001583	missense	0			-	HGNC	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.358C>T	16.37:g.74983665G>A	ENSP00000262144:p.Leu120Phe	Somatic	0	72	0		0.41568620468393	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L120F	ENST00000262144.6	37	c.358	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507313	0.44558	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.61274	0.12	5.62	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.142094	0.47852	D	0.000220	T	0.46171	0.1379	L	0.36672	1.1	0.42291	D	0.992134	B;B	0.14438	0.01;0.005	B;B	0.18263	0.021;0.007	T	0.41342	-0.9514	10	0.41790	T	0.15	-19.8962	10.9341	0.47235	0.0785:0.1333:0.7882:0.0	.	120;120	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	F	120;99	ENSP00000262144:L120F	ENSP00000262144:L120F	L	-	1	0	WDR59	73541166	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.887000	0.39698	2.656000	0.90262	0.563000	0.77884	CTC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	protein_coding	OTTHUMT00000410601.3	G	NM_030581	-		74983665	-1	no_errors	ENST00000262144	ensembl	human	known	74_37	missense	SNP	0.999	A	A	74983665	G	A	74983665	3	1	203	1	0	0	0	0	1	0	0	0	17315	1000	35	2	2654	2	WDR59	16	74983665	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	7753785	74983665	15371088	372	16402											
ADAT1	23536	genome.wustl.edu	37	chr16	75654573	75654573	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcaggccttgtcagctggaGattgtatcttcaccaccgct	10	13	3	1	rs138703520		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:75654573G>T	ENST00000307921.3	-	3	270	c.125C>A	c.(124-126)tCt>tAt	p.S42Y		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	42					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTCAGCTGGAGATTGTATCTT	0.502																																																	0								ENSG00000065457						114	112	113					16																	75654573		2198	4300	6498	ADAT1	SO:0001583	missense	0			-	HGNC	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.125C>A	16.37:g.75654573G>T	ENSP00000310015:p.Ser42Tyr	Somatic	0	51	0		0.41568620468393	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q9NVB7|Q9UNG3	Missense_Mutation	SNP							pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.S42Y	ENST00000307921.3	37	c.125	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632773	0.87660	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.15952	2.38	5.57	1.37	0.22104	Adenosine deaminase/editase (1);	0.989943	0.08255	N	0.974050	T	0.22437	0.0541	L	0.53249	1.67	0.09310	N	1	P	0.48998	0.918	P	0.47645	0.553	T	0.18871	-1.0323	10	0.62326	D	0.03	.	7.2583	0.26189	0.1959:0.1256:0.6785:0.0	.	42	Q9BUB4	ADAT1_HUMAN	Y	42;13	ENSP00000310015:S42Y	ENSP00000310015:S42Y	S	-	2	0	ADAT1	74212074	0.013000	0.17824	0.000000	0.03702	0.826000	0.46750	1.792000	0.38754	0.045000	0.15804	0.561000	0.74099	TCT	-	smart_A_deamin		0.502	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	protein_coding	OTTHUMT00000269027.1	G	NM_012091	-		75654573	-1	no_errors	ENST00000307921	ensembl	human	known	74_37	missense	SNP	0.002	T	T	75654573	G	T	75654573	3	4	203	1	0	0	0	0	1	0	0	0	284	942	33	3	1419	3	ADAT1	16	75654573	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	670908	75654573	14700180	373	16403											
LRRC50	123872	genome.wustl.edu	37	chr16	84203831	84203831	+	Missense_Mutation	SNP	G	G	A													tggagatcaagagccagaggGgaccctcccagctgagaccc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:84203831G>A	ENST00000378553.5	+	8	1521	c.1397G>A	c.(1396-1398)gGg>gAg	p.G466E	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	466	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAGCCAGAGGGGACCCTCCCA	0.632																																																	0								ENSG00000154099						53	52	52					16																	84203831		2199	4300	6499	DNAAF1	SO:0001583	missense	0			-	HGNC	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1397G>A	16.37:g.84203831G>A	ENSP00000367815:p.Gly466Glu	Somatic	0	146	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	92	8.82	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP							NULL	p.G466E	ENST00000378553.5	37	c.1397	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929345	0.34096	.	.	ENSG00000154099	ENST00000378553	T	0.26373	1.74	0.622	-0.42	0.12336	.	.	.	.	.	T	0.21962	0.0529	L	0.40543	1.245	0.51482	D	0.999921	B;D	0.67145	0.264;0.996	B;P	0.50314	0.041;0.637	T	0.21759	-1.0236	8	0.09843	T	0.71	.	.	.	.	.	230;466	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	E	466	ENSP00000367815:G466E	ENSP00000367815:G466E	G	+	2	0	DNAAF1	82761332	0.019000	0.18553	0.015000	0.15790	0.272000	0.26649	-0.238000	0.08977	-0.186000	0.10533	-0.360000	0.07572	GGG	-	NULL		0.632	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	protein_coding	OTTHUMT00000250328.3	G	NM_178452	-		84203831	1	no_errors	ENST00000378553	ensembl	human	known	74_37	missense	SNP	0.819	A	A	84203831	G	A	84203831	3	1	203	1	0	0	0	0	1	0	0	0	9011	1232	43	2	1427	2	LRRC50	16	84203831	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	8549258	84203831	6150922	374	16404	457	2									
LRRC50	123872	genome.wustl.edu	37	chr16	84203832	84203832	+	Silent	SNP	G	G	A													ggagatcaagagccagagggGaccctcccagctgagaccct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr16:84203832G>A	ENST00000378553.5	+	8	1522	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	466	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCCAGAGGGGACCCTCCCAG	0.632																																																	0								ENSG00000154099						53	52	52					16																	84203832		2199	4300	6499	DNAAF1	SO:0001819	synonymous_variant	0			-	HGNC	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1398G>A	16.37:g.84203832G>A		Somatic	0	146	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	93	8.82	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP							NULL	p.G466	ENST00000378553.5	37	c.1398	CCDS10943.2	16																																																																																			-	NULL		0.632	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	protein_coding	OTTHUMT00000250328.3	G	NM_178452	-		84203832	1	no_errors	ENST00000378553	ensembl	human	known	74_37	silent	SNP	0.858	A	A	84203832	G	A	84203832	2	1	203	1	0	0	0	0	0	0	0	1	9011	1161	41	2		2	LRRC50	16	84203832	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	84203832	6150921	375	16405	457	2									
KIF1C	10749	genome.wustl.edu	37	chr17	4925690	4925690	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccacgggcgggctgagattGaggccctggccgccctcaag	16	14	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:4925690G>A	ENST00000320785.5	+	22	2671	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	772					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						GGCTGAGATTGAGGCCCTGGC	0.682																																					Melanoma(96;1023 1447 10250 19259 33730)												0								ENSG00000129250						21	20	20					17																	4925690		2198	4291	6489	KIF1C	SO:0001583	missense	0			-	HGNC	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.2314G>A	17.37:g.4925690G>A	ENSP00000320821:p.Glu772Lys	Somatic	0	30	0		0.41568620468393	211	16.6	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E772K	ENST00000320785.5	37	c.2314	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.675335	0.96764	.	.	ENSG00000129250	ENST00000320785	T	0.73363	-0.74	4.67	4.67	0.58626	.	.	.	.	.	T	0.81356	0.4805	L	0.47190	1.495	0.51012	D	0.999901	D	0.63880	0.993	D	0.68192	0.956	T	0.82762	-0.0297	9	0.62326	D	0.03	.	15.1017	0.72284	0.0:0.0:1.0:0.0	.	772	O43896	KIF1C_HUMAN	K	772	ENSP00000320821:E772K	ENSP00000320821:E772K	E	+	1	0	KIF1C	4866414	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.679000	0.84048	2.436000	0.82500	0.655000	0.94253	GAG	-	NULL		0.682	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	protein_coding	OTTHUMT00000216916.1	G		-		4925690	1	no_errors	ENST00000320785	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4925690	G	A	4925690	3	1	203	1	0	0	0	0	1	0	0	0	8287	1291	45	2	2392	2	KIF1C	17	4925690	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		4925690	76269520	376	16406											
RABEP1	9135	genome.wustl.edu	37	chr17	5284765	5284765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagatgtcagtgagcaagtcCagagggattttgtaaagctt	12	5	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:5284765C>A	ENST00000546142.2	+	17	2639	c.2452C>A	c.(2452-2454)Cag>Aag	p.Q818K	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Missense_Mutation_p.Q818K|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q785K|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q775K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q785K			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	818					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAGCAAGTCCAGAGGGATTT	0.428																																																	0								ENSG00000029725						87	89	88					17																	5284765		1880	4110	5990	RABEP1	SO:0001583	missense	0			-	HGNC	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2452C>A	17.37:g.5284765C>A	ENSP00000437701:p.Gln818Lys	Somatic	0	91	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP							pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.Q818K	ENST00000546142.2	37	c.2452	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983100	0.74474	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.66815	-0.22;-0.18;-0.22;-0.18;-0.23	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.78049	2.395	0.80722	D	1	B;B;B	0.33940	0.433;0.376;0.3	B;B;B	0.29598	0.104;0.06;0.104	T	0.64736	-0.6337	10	0.17832	T	0.49	-16.4194	17.4148	0.87497	0.0:1.0:0.0:0.0	.	775;818;785	F5H355;Q15276;Q15276-2	.;RABE1_HUMAN;.	K	818;785;818;785;775	ENSP00000262477:Q818K;ENSP00000386150:Q785K;ENSP00000437701:Q818K;ENSP00000339569:Q785K;ENSP00000445408:Q775K	ENSP00000262477:Q818K	Q	+	1	0	RABEP1	5225489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.468000	0.80943	2.655000	0.90218	0.655000	0.94253	CAG	-	NULL		0.428	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	protein_coding	OTTHUMT00000439349.1	C	NM_004703	-		5284765	1	no_errors	ENST00000262477	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5284765	C	A	5284765	3	1	203	1	0	0	0	0	1	0	0	0	12969	595	21	3	2518	3	RABEP1	17	5284765	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	359075	5284765	75910445	377	16407											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A													gatggtgaggatgggcctccGgttcatgccgcccatgcagg					rs397516437|rs121912651		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	ENSG00000141510						151	112	125					17																	7577539		2203	4300	6503	TP53	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;	-	HGNC	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	Somatic	0	50	0		0.41568620468393	21	50	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	rs121912651		7577539	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7577539	G	A	7577539	3	1	203	1	0	0	0	0	1	0	0	0	16388	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2292774	7577539	73617671	378	16408	458	2									
TP53	7157	genome.wustl.edu	37	chr17	7577540	7577540	+	Silent	SNP	G	G	A													atggtgaggatgggcctccgGttcatgccgcccatgcagga					rs397516437		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:7577540G>A	ENST00000269305.4	-	7	930	c.741C>T	c.(739-741)aaC>aaT	p.N247N	TP53_ENST00000445888.2_Silent_p.N247N|TP53_ENST00000455263.2_Silent_p.N247N|TP53_ENST00000359597.4_Silent_p.N247N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Silent_p.N247N|TP53_ENST00000420246.2_Silent_p.N247N	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	247	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (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.R248W(16)|p.N247N(10)|p.0?(8)|p.?(5)|p.N247K(2)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.N247I(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(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)	TGGGCCTCCGGTTCATGCCGC	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	52	Substitution - Missense(19)|Substitution - coding silent(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Complex - compound substitution(3)|Deletion - Frameshift(1)	skin(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(4)|breast(4)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|central_nervous_system(2)|oesophagus(2)|ovary(2)|peritoneum(1)|soft_tissue(1)|liver(1)|large_intestine(1)|penis(1)|pancreas(1)						ENSG00000141510						152	113	126					17																	7577540		2203	4300	6503	TP53	SO:0001819	synonymous_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;	-	HGNC	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.741C>T	17.37:g.7577540G>A		Somatic	0	50	0		0.41568620468393	20	47.37	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N247	ENST00000269305.4	37	c.741	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	-		7577540	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7577540	G	A	7577540	2	1	203	1	0	0	0	0	0	0	0	1	16388	1252	44	2		2	TP53	17	7577540	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	7577540	73617670	379	16409	458	2									
MYH2	4620	genome.wustl.edu	37	chr17	10448734	10448734	+	Missense_Mutation	SNP	C	C	T													gggcctcctggcgctttttgCctcggtaggctgtcaccacc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:10448734C>T	ENST00000245503.5	-	5	818	c.434G>A	c.(433-435)gGc>gAc	p.G145D	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G145D|MYH2_ENST00000532183.2_Missense_Mutation_p.G145D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	145	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCTTTTTGCCTCGGTAGGC	0.537																																																	0								ENSG00000125414						140	142	141					17																	10448734		2203	4300	6503	MYH2	SO:0001583	missense	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.434G>A	17.37:g.10448734C>T	ENSP00000245503:p.Gly145Asp	Somatic	0	157	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G145D	ENST00000245503.5	37	c.434	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479266	0.63849	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.40064	U	0.001181	D	0.96827	0.8964	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.976	D;D	0.97110	1.0;0.963	D	0.97169	0.9843	10	0.87932	D	0	.	18.8439	0.92196	0.0:1.0:0.0:0.0	.	145;145	Q567P6;Q9UKX2	.;MYH2_HUMAN	D	145	ENSP00000433944:G145D;ENSP00000245503:G145D;ENSP00000380367:G145D;ENSP00000399348:G145D	ENSP00000245503:G145D	G	-	2	0	MYH2	10389459	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.815000	0.86186	2.706000	0.92434	0.650000	0.86243	GGC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.537	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	C	NM_017534	-		10448734	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10448734	C	T	10448734	3	4	203	1	0	0	0	0	1	0	0	0	10037	739	26	2	5535	2	MYH2	17	10448734	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2871194	10448734	70746476	380	16410	459	2									
MYH2	4620	genome.wustl.edu	37	chr17	10448735	10448735	+	Missense_Mutation	SNP	C	C	A													ggcctcctggcgctttttgcCtcggtaggctgtcaccacct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:10448735C>A	ENST00000245503.5	-	5	817	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G145C|MYH2_ENST00000532183.2_Missense_Mutation_p.G145C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	145	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTTTTTGCCTCGGTAGGCT	0.532																																																	0								ENSG00000125414						138	140	140					17																	10448735		2203	4300	6503	MYH2	SO:0001583	missense	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.433G>T	17.37:g.10448735C>A	ENSP00000245503:p.Gly145Cys	Somatic	0	159	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	54	21.74	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G145C	ENST00000245503.5	37	c.433	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239110	0.58995	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.40064	U	0.001181	D	0.97766	0.9267	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.99	D	0.98802	1.0740	10	0.87932	D	0	.	18.8439	0.92196	0.0:1.0:0.0:0.0	.	145;145	Q567P6;Q9UKX2	.;MYH2_HUMAN	C	145	ENSP00000433944:G145C;ENSP00000245503:G145C;ENSP00000380367:G145C;ENSP00000399348:G145C	ENSP00000245503:G145C	G	-	1	0	MYH2	10389460	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.815000	0.86186	2.706000	0.92434	0.650000	0.86243	GGC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	C	NM_017534	-		10448735	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10448735	C	A	10448735	3	1	203	1	0	0	0	0	1	0	0	0	10037	681	24	3	5536	3	MYH2	17	10448735	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	10448735	70746475	381	16411	459	2									
ZNF287	57336	genome.wustl.edu	37	chr17	16469915	16469915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcctctggggtatcttggGaaagggtagagttttgagga	15	5	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:16469915G>A	ENST00000395824.1	-	3	1042	c.425C>T	c.(424-426)tCc>tTc	p.S142F	ZNF287_ENST00000395825.3_Missense_Mutation_p.S142F|ZNF287_ENST00000461555.1_5'Flank			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	135					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GGTATCTTGGGAAAGGGTAGA	0.458																																																	0								ENSG00000141040						140	145	143					17																	16469915		2203	4300	6503	ZNF287	SO:0001583	missense	0			-	HGNC	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.425C>T	17.37:g.16469915G>A	ENSP00000379168:p.Ser142Phe	Somatic	0	76	0		0.41568620468393	30	26.83	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	Q6IAG1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S142F	ENST00000395824.1	37	c.425	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976530	0.34848	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.06068	3.35;3.35	4.28	1.11	0.20524	Transcription regulator SCAN (1);	0.517876	0.16498	N	0.211800	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	10	0.32370	T	0.25	.	6.3516	0.21379	0.0992:0.361:0.5398:0.0	.	135	Q9HBT7	ZN287_HUMAN	F	142	ENSP00000379169:S142F;ENSP00000379168:S142F	ENSP00000379168:S142F	S	-	2	0	ZNF287	16410640	0.998000	0.40836	0.069000	0.20011	0.993000	0.82548	2.951000	0.49089	0.314000	0.23086	0.655000	0.94253	TCC	-	smart_Tscrpt_reg_SCAN		0.458	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	protein_coding	OTTHUMT00000130504.1	G		-		16469915	-1	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	SNP	0.096	A	A	16469915	G	A	16469915	3	1	203	1	0	0	0	0	1	0	0	0	17832	1174	41	2	1876	2	ZNF287	17	16469915	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	6021180	16469915	64725295	382	16412											
ULK2	9706	genome.wustl.edu	37	chr17	19687131	19687131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcctctgctcctggagggGaagagccgaagcctgggcca	15	13	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:19687131G>A	ENST00000395544.4	-	22	2838	c.2339C>T	c.(2338-2340)tCc>tTc	p.S780F	ULK2_ENST00000361658.2_Missense_Mutation_p.S780F	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	780					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCCTGGAGGGGAAGAGCCGAA	0.642																																																	0								ENSG00000083290						47	55	52					17																	19687131		2203	4300	6503	ULK2	SO:0001583	missense	0			-	HGNC	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2339C>T	17.37:g.19687131G>A	ENSP00000378914:p.Ser780Phe	Somatic	0	36	0		0.41568620468393	18	21.74	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A8MY69|O75119	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S780F	ENST00000395544.4	37	c.2339	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740146	0.49045	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.68765	-0.35;-0.35	5.58	5.58	0.84498	.	0.107756	0.64402	D	0.000003	T	0.67344	0.2883	L	0.57536	1.79	0.50632	D	0.99988	P	0.48503	0.911	P	0.46585	0.521	T	0.63418	-0.6642	10	0.10111	T	0.7	-2.7762	18.5624	0.91105	0.0:0.0:1.0:0.0	.	780	Q8IYT8	ULK2_HUMAN	F	780	ENSP00000354877:S780F;ENSP00000378914:S780F	ENSP00000354877:S780F	S	-	2	0	ULK2	19627723	1.000000	0.71417	0.841000	0.33234	0.074000	0.17049	9.165000	0.94761	2.611000	0.88343	0.655000	0.94253	TCC	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.642	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	protein_coding	OTTHUMT00000132375.2	G	NM_014683	-		19687131	-1	no_errors	ENST00000361658	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19687131	G	A	19687131	3	1	203	1	0	0	0	0	1	0	0	0	16983	1174	41	2	795	2	ULK2	17	19687131	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3217216	19687131	61508079	383	16413											
ERAL1	26284	genome.wustl.edu	37	chr17	27185427	27185427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctcagacaagtggacaCggaaccagctcagcccccag	10	14	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:27185427C>T	ENST00000254928.5	+	6	731	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	212	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CAAGTGGACACGGAACCAGCT	0.517																																																	0								ENSG00000132591						144	107	120					17																	27185427		2203	4300	6503	ERAL1	SO:0001583	missense	0			-	HGNC	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.634C>T	17.37:g.27185427C>T	ENSP00000254928:p.Arg212Trp	Somatic	0	51	0		0.41568620468393	80	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP							pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.R212W	ENST00000254928.5	37	c.634	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667915	0.29604	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95554	-3.74	5.37	3.24	0.37175	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.099564	0.64402	D	0.000002	D	0.97907	0.9312	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98468	1.0599	10	0.87932	D	0	-26.4873	12.3641	0.55219	0.4445:0.5555:0.0:0.0	.	212	O75616	ERAL1_HUMAN	W	212;152	ENSP00000254928:R212W	ENSP00000254928:R212W	R	+	1	2	ERAL1	24209553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.629000	0.37071	1.449000	0.47699	0.650000	0.86243	CGG	-	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom		0.517	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	protein_coding	OTTHUMT00000255937.2	C		-		27185427	1	no_errors	ENST00000254928	ensembl	human	known	74_37	missense	SNP	0.999	T	T	27185427	C	T	27185427	3	4	203	1	0	0	0	0	1	0	0	0	5204	527	19	1	656	1	ERAL1	17	27185427	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7498296	27185427	54009783	384	16414											
PHF12	57649	genome.wustl.edu	37	chr17	27233377	27233377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagctgccatggtgcaGtaaggctgtgccctcccagc	13	12	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:27233377G>A	ENST00000332830.4	-	15	3649	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATGGTGCAGTAAGGCTGTG	0.617																																																	0								ENSG00000109118						53	54	54					17																	27233377		2203	4300	6503	PHF12	SO:0001819	synonymous_variant	0			-	HGNC	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2839C>T	17.37:g.27233377G>A		Somatic	0	46	0		0.41568620468393	77	19.59	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00		Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.L947	ENST00000332830.4	37	c.2839	CCDS32598.1	17																																																																																			-	NULL		0.617	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	protein_coding	OTTHUMT00000255941.1	G	NM_020889	-		27233377	-1	no_errors	ENST00000332830	ensembl	human	known	74_37	silent	SNP	1.000	A	A	27233377	G	A	27233377	2	1	203	1	0	0	0	0	0	0	0	1	11825	1020	36	2		2	PHF12	17	27233377	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	47950	27233377	53961833	385	16415											
SLFN13	146857	genome.wustl.edu	37	chr17	33772391	33772391	+	Silent	SNP	C	C	T													ttaacaaaaatataaaaacaCcttccgtgttgcttagtctc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:33772391C>T	ENST00000285013.6	-	3	584	c.309G>A	c.(307-309)agG>agA	p.R103R	SLFN13_ENST00000526861.1_Silent_p.R103R|SLFN13_ENST00000533791.1_Silent_p.R103R|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Silent_p.R103R|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	103						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TATAAAAACACCTTCCGTGTT	0.383																																																	0								ENSG00000154760						67	68	68					17																	33772391		2203	4300	6503	SLFN13	SO:0001819	synonymous_variant	0			-	HGNC	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.309G>A	17.37:g.33772391C>T		Somatic	0	46	0		0.41568620468393	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	E1P645|Q658M1|Q6ZS51|Q96A81	Splice_Site	SNP							-	e1+1	ENST00000285013.6	37	c.308+1	CCDS32620.1	17																																																																																			-	-		0.383	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	protein_coding	OTTHUMT00000381883.1	C	NM_144682	-		33772391	-1	no_errors	ENST00000530782	ensembl	human	known	74_37	splice_site	SNP	0.000	T	T	33772391	C	T	33772391	2	4	203	1	0	0	0	0	0	0	0	1	14744	506	18	2		2	SLFN13	17	33772391	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6539014	33772391	47422819	386	16416	460	2									
SLFN13	146857	genome.wustl.edu	37	chr17	33772392	33772392	+	Missense_Mutation	SNP	C	C	T													taacaaaaatataaaaacacCttccgtgttgcttagtctca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:33772392C>T	ENST00000285013.6	-	3	583	c.308G>A	c.(307-309)aGg>aAg	p.R103K	SLFN13_ENST00000526861.1_Missense_Mutation_p.R103K|SLFN13_ENST00000533791.1_Missense_Mutation_p.R103K|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.R103K|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	103						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATAAAAACACCTTCCGTGTTG	0.388																																																	0								ENSG00000154760						68	69	69					17																	33772392		2203	4300	6503	SLFN13	SO:0001583	missense	0			-	HGNC	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.308G>A	17.37:g.33772392C>T	ENSP00000285013:p.Arg103Lys	Somatic	0	45	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.R103K	ENST00000285013.6	37	c.308	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	C	7.723	0.697587	0.15106	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635;ENST00000524511	T;T;T;T	0.21361	4.64;4.64;4.64;2.01	3.28	-3.01	0.05463	.	0.864394	0.09594	N	0.781145	T	0.08223	0.0205	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39921	-0.9590	10	0.05959	T	0.93	.	4.2809	0.10833	0.0:0.2811:0.1891:0.5297	.	103	Q68D06	SLN13_HUMAN	K	103	ENSP00000285013:R103K;ENSP00000434439:R103K;ENSP00000444016:R103K;ENSP00000433181:R103K	ENSP00000285013:R103K	R	-	2	0	SLFN13	30796505	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.589000	0.02104	-0.447000	0.07138	0.205000	0.17691	AGG	-	NULL		0.388	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	protein_coding	OTTHUMT00000381883.1	C	NM_144682	-		33772392	-1	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	SNP	0.000	T	T	33772392	C	T	33772392	3	4	203	1	0	0	0	0	1	0	0	0	14744	681	24	2	2401	2	SLFN13	17	33772392	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	33772392	47422818	387	16417	460	2									
WNK4	65266	genome.wustl.edu	37	chr17	40947104	40947104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttctctccccacgacttctCcacctacgttctctcccact	3	20	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:40947104C>T	ENST00000246914.5	+	14	2686	c.2665C>T	c.(2665-2667)Cca>Tca	p.P889S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	889					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)			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)		CACGACTTCTCCACCTACGTT	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								ENSG00000126562						265	244	251					17																	40947104		2203	4300	6503	WNK4	SO:0001583	missense	0			-	HGNC	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.2665C>T	17.37:g.40947104C>T	ENSP00000246914:p.Pro889Ser	Somatic	0	60	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P889S	ENST00000246914.5	37	c.2665	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	8.722	0.914617	0.17907	.	.	ENSG00000126562	ENST00000246914	T	0.24151	1.87	5.32	4.34	0.51931	.	0.000000	0.45867	D	0.000326	T	0.15782	0.0380	N	0.14661	0.345	0.37810	D	0.928	B;B;B	0.32753	0.383;0.264;0.264	B;B;B	0.32724	0.151;0.072;0.072	T	0.13415	-1.0510	10	0.33940	T	0.23	-3.5549	13.4092	0.60933	0.0:0.9227:0.0:0.0773	.	889;889;889	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	S	889	ENSP00000246914:P889S	ENSP00000246914:P889S	P	+	1	0	WNK4	38200630	0.000000	0.05858	0.645000	0.29479	0.058000	0.15608	-0.468000	0.06656	2.651000	0.90000	0.591000	0.81541	CCA	-	NULL		0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	protein_coding	OTTHUMT00000452389.1	C		-		40947104	1	no_errors	ENST00000246914	ensembl	human	known	74_37	missense	SNP	0.984	T	T	40947104	C	T	40947104	3	4	203	1	0	0	0	0	1	0	0	0	17387	855	30	2	2719	2	WNK4	17	40947104	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7174712	40947104	40248106	388	16418											
IFI35	3430	genome.wustl.edu	37	chr17	41165591	41165591	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggacaagctagagatcttCtttggcaagactaggaacgg	12	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:41165591C>T	ENST00000415816.2	+	5	697	c.474C>T	c.(472-474)ttC>ttT	p.F158F	IFI35_ENST00000438323.2_Silent_p.F160F	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	158					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TAGAGATCTTCTTTGGCAAGA	0.577																																																	0								ENSG00000068079						246	244	245					17																	41165591		2203	4300	6503	IFI35	SO:0001819	synonymous_variant	0			-	HGNC	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.474C>T	17.37:g.41165591C>T		Somatic	0	23	0		0.41568620468393	184	24.28	59	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	C9JGX1|Q92984|Q99537|Q9BV98	Silent	SNP							pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N	p.F160	ENST00000415816.2	37	c.480		17																																																																																			-	pfam_Nmi/IFP35_dom		0.577	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	protein_coding	OTTHUMT00000395851.1	C	NM_005533	-		41165591	1	no_errors	ENST00000438323	ensembl	human	known	74_37	silent	SNP	1.000	T	T	41165591	C	T	41165591	2	4	203	1	0	0	0	0	0	0	0	1	7518	912	32	2		2	IFI35	17	41165591	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	218487	41165591	40029619	389	16419											
OSBPL7	114881	genome.wustl.edu	37	chr17	45891082	45891082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgacaccttggacagGtctttgccgatgttgttgcg	13	9	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:45891082G>A	ENST00000007414.3	-	15	1661	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	OSBPL7_ENST00000392507.3_Silent_p.D490D	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	490					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCTTGGACAGGTCTTTGCCGA	0.657																																																	0								ENSG00000006025						67	62	64					17																	45891082		2203	4300	6503	OSBPL7	SO:0001819	synonymous_variant	0			-	HGNC	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1470C>T	17.37:g.45891082G>A		Somatic	0	76	0		0.41568620468393	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	D3DTT6|Q6PIV6	Silent	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D490	ENST00000007414.3	37	c.1470	CCDS11515.1	17																																																																																			-	pfam_Oxysterol-bd		0.657	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	protein_coding	OTTHUMT00000441367.1	G	NM_017731	-		45891082	-1	no_errors	ENST00000007414	ensembl	human	known	74_37	silent	SNP	1.000	A	A	45891082	G	A	45891082	2	1	203	1	0	0	0	0	0	0	0	1	11284	1252	44	2		2	OSBPL7	17	45891082	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4725491	45891082	35304128	390	16420											
PPP1R9B	84687	genome.wustl.edu	37	chr17	48213002	48213002	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcagtctcctttttcagGaactcgatctccctgggcac	9	13	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:48213002G>A	ENST00000316878.6	-	11	2312	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	770	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCTTTTTCAGGAACTCGATCT	0.607																																																	0								ENSG00000108819						39	40	39					17																	48213002		2030	4160	6190	PPP1R9B	SO:0001819	synonymous_variant	0			-	HGNC	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.2310C>T	17.37:g.48213002G>A		Somatic	0	38	0		0.41568620468393	133	10.74	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q8TCR9	Silent	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F770	ENST00000316878.6	37	c.2310		17																																																																																			-	NULL		0.607	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	protein_coding		G	NM_032595	-		48213002	-1	no_errors	ENST00000316878	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48213002	G	A	48213002	2	1	203	1	0	0	0	0	0	0	0	1	12384	1165	41	2		2	PPP1R9B	17	48213002	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2321920	48213002	32982208	391	16421											
ABCC3	8714	genome.wustl.edu	37	chr17	48755231	48755231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggcctacaaccgcagccggGattttgagatcatcagtgat	12	10	2	2	rs139738090		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:48755231G>C	ENST00000285238.8	+	24	3585	c.3505G>C	c.(3505-3507)Gat>Cat	p.D1169H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1169	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	CCGCAGCCGGGATTTTGAGAT	0.562																																																	0								ENSG00000108846						112	118	116					17																	48755231		2203	4300	6503	ABCC3	SO:0001583	missense	0			-	HGNC	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.3505G>C	17.37:g.48755231G>C	ENSP00000285238:p.Asp1169His	Somatic	0	43	0		0.41568620468393	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.D1169H	ENST00000285238.8	37	c.3505	CCDS32681.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.973412|1.973412	0.34848|0.34848	.|.	.|.	ENSG00000108846|ENSG00000108846	ENST00000285238|ENST00000513745	D|.	0.89617|.	-2.54|.	5.7|5.7	5.7|5.7	0.88788|0.88788	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.355758|.	0.30723|.	N|.	0.009011|.	T|T	0.46151|0.46151	0.1378|0.1378	L|L	0.45228|0.45228	1.405|1.405	0.31440|0.31440	N|N	0.672027|0.672027	D|.	0.63046|.	0.992|.	P|.	0.62813|.	0.907|.	T|T	0.52457|0.52457	-0.8573|-0.8573	10|5	0.87932|.	D|.	0|.	-27.572|-27.572	8.8074|8.8074	0.34945|0.34945	0.0729:0.0:0.7071:0.22|0.0729:0.0:0.7071:0.22	.|.	1169|.	O15438|.	MRP3_HUMAN|.	H|A	1169|272	ENSP00000285238:D1169H|.	ENSP00000285238:D1169H|.	D|G	+|+	1|2	0|0	ABCC3|ABCC3	46110230|46110230	0.077000|0.077000	0.21312|0.21312	0.821000|0.821000	0.32701|0.32701	0.020000|0.020000	0.10135|0.10135	2.629000|2.629000	0.46485|0.46485	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAT|GGA	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.562	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	G	NM_020038	-		48755231	1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	SNP	0.922	C	C	48755231	G	C	48755231	3	2	203	1	0	0	0	0	1	0	0	0	54	1174	41	4	3683	4	ABCC3	17	48755231	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	542229	48755231	32439979	392	16422											
MMD	23531	genome.wustl.edu	37	chr17	53488776	53488776	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgatggccggaacaatgagGaactgagggaaagataaaga	14	5	0	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:53488776G>A	ENST00000262065.3	-	3	407	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	37					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GAACAATGAGGAACTGAGGGA	0.428																																																	0								ENSG00000108960						61	59	60					17																	53488776		2203	4300	6503	MMD	SO:0001819	synonymous_variant	0			-	HGNC	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.111C>T	17.37:g.53488776G>A		Somatic	0	65	0		0.41568620468393	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	B2R6X9|D3DTY6|Q8TAN7	Silent	SNP							pfam_HlyIII-related,tigrfam_HylIII	p.F37	ENST00000262065.3	37	c.111	CCDS11586.1	17																																																																																			-	pfam_HlyIII-related,tigrfam_HylIII		0.428	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	protein_coding	OTTHUMT00000439214.1	G		-		53488776	-1	no_errors	ENST00000262065	ensembl	human	known	74_37	silent	SNP	1.000	A	A	53488776	G	A	53488776	2	1	203	1	0	0	0	0	0	0	0	1	9645	1165	41	2		2	MMD	17	53488776	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4733545	53488776	27706434	393	16423											
ABCA9	10350	genome.wustl.edu	37	chr17	66979869	66979869	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcctgctgagcagcctGggggaaaagcctcaggatct	12	12	2	1	rs537889906		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:66979869G>A	ENST00000340001.4	-	36	4832	c.4621C>T	c.(4621-4623)Cag>Tag	p.Q1541*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1503*|ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1541					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAGCAGCCTGGGGGAAAAGC	0.458																																																	0								ENSG00000154258						103	99	100					17																	66979869		2203	4300	6503	ABCA9	SO:0001587	stop_gained	0			-	HGNC	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4621C>T	17.37:g.66979869G>A	ENSP00000342216:p.Gln1541*	Somatic	0	65	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	36	29.41	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q1541*	ENST00000340001.4	37	c.4621	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.401955	0.99159	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	.	.	.	4.91	3.88	0.44766	.	0.156137	0.29444	N	0.012137	.	.	.	.	.	.	0.35264	D	0.779829	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	10.3747	0.44075	0.0:0.1231:0.6594:0.2175	.	.	.	.	X	1541;1486	.	ENSP00000342216:Q1541X	Q	-	1	0	ABCA9	64491464	0.001000	0.12720	1.000000	0.80357	0.952000	0.60782	1.052000	0.30429	2.447000	0.82792	0.655000	0.94253	CAG	-	NULL		0.458	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	protein_coding	OTTHUMT00000277072.2	G	NM_172386	-		66979869	-1	no_errors	ENST00000340001	ensembl	human	known	74_37	nonsense	SNP	0.372	A	A	66979869	G	A	66979869	4	1	203	1	0	0	0	0	0	1	0	0	39	1357	47	2	269	2	ABCA9	17	66979869	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	13491093	66979869	14215341	394	16424											
EVPL	2125	genome.wustl.edu	37	chr17	74006348	74006348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccgcttgccctcctcctCcacctgggccttcaccctgg	8	22	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:74006348C>T	ENST00000301607.3	-	22	3191	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1002K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	980	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCTCCTCCTCCACCTGGGCC	0.652																																																	0								ENSG00000167880						41	44	43					17																	74006348		2203	4300	6503	EVPL	SO:0001583	missense	0			-	HGNC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2938G>A	17.37:g.74006348C>T	ENSP00000301607:p.Glu980Lys	Somatic	0	51	0		0.41568620468393	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	A0AUV5	Missense_Mutation	SNP							pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E980K	ENST00000301607.3	37	c.2938	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	7.676	0.688086	0.14973	.	.	ENSG00000167880	ENST00000301607	T	0.65178	-0.14	4.57	4.57	0.56435	.	0.181442	0.47852	D	0.000206	T	0.67970	0.2950	M	0.72118	2.19	0.42298	D	0.992164	B;P	0.52577	0.177;0.954	B;P	0.47206	0.022;0.541	T	0.71965	-0.4433	10	0.40728	T	0.16	-38.3436	17.7297	0.88374	0.0:1.0:0.0:0.0	.	1002;980	B7ZLH8;Q92817	.;EVPL_HUMAN	K	980	ENSP00000301607:E980K	ENSP00000301607:E980K	E	-	1	0	EVPL	71517943	1.000000	0.71417	0.722000	0.30670	0.020000	0.10135	3.962000	0.56766	2.246000	0.74042	0.491000	0.48974	GAG	-	NULL		0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	C	NM_001988	-		74006348	-1	no_errors	ENST00000301607	ensembl	human	known	74_37	missense	SNP	0.999	T	T	74006348	C	T	74006348	3	4	203	1	0	0	0	0	1	0	0	0	5294	864	30	2	3167	2	EVPL	17	74006348	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7026479	74006348	7188862	395	16425											
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74622777	74622777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgattgcccaatataaGgagtgactgggtcagggaga	13	9	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:74622777G>A	ENST00000156626.7	-	5	1466	c.1267C>T	c.(1267-1269)Ctt>Ttt	p.L423F	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	423					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CCCAATATAAGGAGTGACTGG	0.552																																																	0								ENSG00000070526						287	306	299					17																	74622777		2203	4300	6503	ST6GALNAC1	SO:0001583	missense	0			-	HGNC	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1267C>T	17.37:g.74622777G>A	ENSP00000156626:p.Leu423Phe	Somatic	0	69	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	Q6UW90|Q9NSC6	Missense_Mutation	SNP							pfam_Glyco_trans_29	p.L423F	ENST00000156626.7	37	c.1267	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	G	16.31	3.085964	0.55861	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.26810	1.72;1.71	5.06	-5.06	0.02946	.	0.914872	0.09164	N	0.839823	T	0.27489	0.0675	M	0.75264	2.295	0.09310	N	1	P	0.45348	0.856	P	0.47470	0.548	T	0.20075	-1.0286	10	0.45353	T	0.12	-5.505	2.0532	0.03575	0.1366:0.203:0.2476:0.4129	.	423	Q9NSC7	SIA7A_HUMAN	F	423	ENSP00000156626:L423F;ENSP00000351991:L423F	ENSP00000156626:L423F	L	-	1	0	ST6GALNAC1	72134372	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.842000	0.04354	-0.626000	0.05596	0.609000	0.83330	CTT	-	pfam_Glyco_trans_29		0.552	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	protein_coding	OTTHUMT00000450974.1	G	NM_018414	-		74622777	-1	no_errors	ENST00000156626	ensembl	human	known	74_37	missense	SNP	0.000	A	A	74622777	G	A	74622777	3	1	203	1	0	0	0	0	1	0	0	0	15230	1000	35	2	555	2	ST6GALNAC1	17	74622777	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	616429	74622777	6572433	396	16426											
DNAH17	8632	genome.wustl.edu	37	chr17	76567361	76567361	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagggtcacaggctcacCttcagtgacgttggtgtaaa	12	9	3	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:76567361C>T	ENST00000585328.1	-	5	956	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	DNAH17_ENST00000389840.5_Splice_Site_p.G278R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	278	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGCTCACCTTCAGTGACG	0.522																																																	0								ENSG00000187775						79	81	81					17																	76567361		2164	4250	6414	DNAH17	SO:0001630	splice_region_variant	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.832+1G>A	17.37:g.76567361C>T		Somatic	0	39	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.G278R	ENST00000585328.1	37	c.832		17	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537374	0.45176	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54279	0.58	4.31	4.31	0.51392	.	.	.	.	.	T	0.52805	0.1757	L	0.48642	1.525	0.36577	D	0.873319	.	.	.	.	.	.	T	0.58323	-0.7656	6	.	.	.	.	9.7717	0.40593	0.0:0.9002:0.0:0.0998	.	.	.	.	R	278	ENSP00000374490:G278R	.	G	-	1	0	DNAH17	74078956	0.999000	0.42202	0.706000	0.30403	0.034000	0.12701	4.635000	0.61332	2.115000	0.64714	0.561000	0.74099	GGG	-	pfam_Dynein_heavy_dom-1		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	C	NM_173628	-	Missense_Mutation	76567361	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	0.974	T	T	76567361	C	T	76567361	5	4	203	1	0	0	0	0	0	0	1	0	4603	695	24	2	12864	2	DNAH17	17	76567361	Splice_Site	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1944584	76567361	4627849	397	16427											
TSPAN10	83882	genome.wustl.edu	37	chr17	79612610	79612611	+	RNA	DEL	TG	TG	-													cgaccaagtccagctcgggcTgaggtgctgcggagctgcct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr17:79612610_79612611delTG	ENST00000572675.1	+	0	629_630				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAGCTCGGGCTGAGGTGCTGCG	0.658																																																	0								ENSG00000182612																																			TSPAN10			0				HGNC	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612610_79612611delTG		Somatic	0	44	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q8N548	Frame_Shift_Del	DEL							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L210fs	ENST00000572675.1	37	c.629_630		17																																																																																			-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.658	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	TSPAN10	polymorphic_pseudogene	OTTHUMT00000440313.1	TG	NM_031945			79612611	1	no_errors	ENST00000328585	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	79612611	TG	-	79612610	6	5	203	0	1	1	0	1	0	0	0	0	16641	1580	55	0		0	TSPAN10	17	79612610	RNA	DEL	TG	TCGA-QQ-A5VD-01A-21D-A32I-09	3045249	79612610	1582600	398	16428											
SMCHD1	23347	genome.wustl.edu	37	chr18	2762122	2762122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttatagttgaagtcctgcCtaatcaacctgtgaagttag	10	7	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:2762122C>T	ENST00000320876.6	+	36	4792	c.4454C>T	c.(4453-4455)cCt>cTt	p.P1485L	SMCHD1_ENST00000261598.8_Missense_Mutation_p.P1485L|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1485					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						GAAGTCCTGCCTAATCAACCT	0.378																																																	0								ENSG00000101596						186	171	176					18																	2762122		1850	4103	5953	SMCHD1	SO:0001583	missense	0			-	HGNC	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.4454C>T	18.37:g.2762122C>T	ENSP00000326603:p.Pro1485Leu	Somatic	0	48	0		0.41568620468393	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP							pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge	p.P1485L	ENST00000320876.6	37	c.4454	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537834	0.85917	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.36699	1.24;1.26	5.34	5.34	0.76211	.	0.113873	0.64402	D	0.000012	T	0.62109	0.2401	M	0.71581	2.175	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.65455	-0.6164	10	0.87932	D	0	-12.6505	19.0383	0.92987	0.0:1.0:0.0:0.0	.	1485	A6NHR9	SMHD1_HUMAN	L	1485	ENSP00000326603:P1485L;ENSP00000261598:P1485L	ENSP00000261598:P1485L	P	+	2	0	SMCHD1	2752122	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.614000	0.67695	2.492000	0.84095	0.650000	0.86243	CCT	-	NULL		0.378	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	protein_coding	OTTHUMT00000441082.2	C		-		2762122	1	no_errors	ENST00000320876	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2762122	C	T	2762122	3	4	203	1	0	0	0	0	1	0	0	0	14796	681	24	2	4596	2	SMCHD1	18	2762122	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		2762122	75315126	399	16429											
LAMA1	284217	genome.wustl.edu	37	chr18	6958555	6958555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacgtcccctctccctctgGaattcccccgacgtacagat	7	17	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:6958555G>A	ENST00000389658.3	-	55	7978	c.7885C>T	c.(7885-7887)Cca>Tca	p.P2629S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2629	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				TCTCCCTCTGGAATTCCCCCG	0.463																																																	0								ENSG00000101680						158	117	131					18																	6958555		2203	4300	6503	LAMA1	SO:0001583	missense	0			-	HGNC	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.7885C>T	18.37:g.6958555G>A	ENSP00000374309:p.Pro2629Ser	Somatic	0	52	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00		Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P2629S	ENST00000389658.3	37	c.7885	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089667	0.55968	.	.	ENSG00000101680	ENST00000389658;ENST00000344342	D	0.81499	-1.5	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89691	0.6788	M	0.70903	2.155	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.90136	0.4210	10	0.87932	D	0	.	19.7112	0.96096	0.0:0.0:1.0:0.0	.	2629	P25391	LAMA1_HUMAN	S	2629;82	ENSP00000374309:P2629S	ENSP00000341000:P82S	P	-	1	0	LAMA1	6948555	1.000000	0.71417	0.240000	0.24138	0.197000	0.23852	7.401000	0.79962	2.722000	0.93159	0.655000	0.94253	CCA	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559	-		6958555	-1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	SNP	0.957	A	A	6958555	G	A	6958555	3	1	203	1	0	0	0	0	1	0	0	0	8607	1174	41	2	1378	2	LAMA1	18	6958555	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	4196433	6958555	71118693	400	16430											
C18orf1	753	genome.wustl.edu	37	chr18	13645200	13645200	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggatcgcttcagccgcttCcagcccacctacccctatgt	8	17	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:13645200C>T	ENST00000359446.5	+	6	933	c.465C>T	c.(463-465)ttC>ttT	p.F155F	LDLRAD4_ENST00000587757.1_Silent_p.F118F|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000361205.4_Silent_p.F155F|LDLRAD4_ENST00000585931.1_Silent_p.F78F|LDLRAD4_ENST00000586765.1_Silent_p.F100F|LDLRAD4_ENST00000592991.1_Silent_p.F57F|LDLRAD4_ENST00000399848.3_Silent_p.F137F	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	155					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										TCAGCCGCTTCCAGCCCACCT	0.607																																																	0								ENSG00000168675						101	101	101					18																	13645200		2203	4300	6503	LDLRAD4	SO:0001819	synonymous_variant	0			-	HGNC	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.465C>T	18.37:g.13645200C>T		Somatic	0	53	0		0.41568620468393	23	34.29	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP							pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.F155	ENST00000359446.5	37	c.465	CCDS32793.1	18																																																																																			-	NULL		0.607	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	protein_coding	OTTHUMT00000458326.1	C	NM_181481	-		13645200	1	no_errors	ENST00000359446	ensembl	human	known	74_37	silent	SNP	1.000	T	T	13645200	C	T	13645200	2	4	203	1	0	0	0	0	0	0	0	1	1896	854	30	2		2	C18orf1	18	13645200	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6686645	13645200	64432048	401	16431											
RIOK3	8780	genome.wustl.edu	37	chr18	21055005	21055005	+	Silent	SNP	C	C	T													ggccatgatcaagttccagcCcctaaattaaaagaagtaaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:21055005C>T	ENST00000339486.3	+	9	1724	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	RIOK3_ENST00000577501.1_Silent_p.A369A|RIOK3_ENST00000581585.1_Silent_p.A353A	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	369	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTCCAGCCCCTAAATTAA	0.348																																																	0								ENSG00000101782						75	73	74					18																	21055005		2203	4300	6503	RIOK3	SO:0001819	synonymous_variant	0			-	HGNC	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1107C>T	18.37:g.21055005C>T		Somatic	0	94	0		0.41568620468393	17	26.09	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	Q8IXN9	Silent	SNP							pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.A369	ENST00000339486.3	37	c.1107	CCDS11877.1	18																																																																																			-	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3		0.348	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	protein_coding	OTTHUMT00000254756.1	C	NM_003831	-		21055005	1	no_errors	ENST00000339486	ensembl	human	known	74_37	silent	SNP	0.971	T	T	21055005	C	T	21055005	2	4	203	1	0	0	0	0	0	0	0	1	13387	610	22	2		2	RIOK3	18	21055005	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	7409805	21055005	57022243	402	16432	461	2									
RIOK3	8780	genome.wustl.edu	37	chr18	21055006	21055006	+	Missense_Mutation	SNP	C	C	T													gccatgatcaagttccagccCctaaattaaaagaagtaaag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:21055006C>T	ENST00000339486.3	+	9	1725	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	RIOK3_ENST00000577501.1_Missense_Mutation_p.P370S|RIOK3_ENST00000581585.1_Missense_Mutation_p.P354S	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	370	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTTCCAGCCCCTAAATTAAA	0.353																																																	0								ENSG00000101782						74	73	73					18																	21055006		2203	4300	6503	RIOK3	SO:0001583	missense	0			-	HGNC	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1108C>T	18.37:g.21055006C>T	ENSP00000341874:p.Pro370Ser	Somatic	0	94	0		0.41568620468393	17	32	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	Q8IXN9	Missense_Mutation	SNP							pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.P370S	ENST00000339486.3	37	c.1108	CCDS11877.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.132530	0.94473	.	.	ENSG00000101782	ENST00000339486	T	0.07567	3.18	5.98	5.98	0.97165	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.993;0.996	T	0.45585	-0.9251	10	0.87932	D	0	-28.0463	20.521	0.99222	0.0:1.0:0.0:0.0	.	114;354;370;370	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	S	370	ENSP00000341874:P370S	ENSP00000341874:P370S	P	+	1	0	RIOK3	19309004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.861000	0.98227	0.650000	0.86243	CCT	-	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3		0.353	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	protein_coding	OTTHUMT00000254756.1	C	NM_003831	-		21055006	1	no_errors	ENST00000339486	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21055006	C	T	21055006	3	4	203	1	0	0	0	0	1	0	0	0	13387	623	22	2	1142	2	RIOK3	18	21055006	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	21055006	57022242	403	16433	461	2									
ASXL3	80816	genome.wustl.edu	37	chr18	31251776	31251776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaacatgggcaaaaatctCccactggaaaacaaacaagt	7	9	1	1	rs267605172		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:31251776C>T	ENST00000269197.5	+	7	661	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	221					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						GCAAAAATCTCCCACTGGAAA	0.318																																																	0								ENSG00000141431						68	62	64					18																	31251776		1808	4078	5886	ASXL3	SO:0001583	missense	0			-	HGNC	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.661C>T	18.37:g.31251776C>T	ENSP00000269197:p.Pro221Ser	Somatic	0	102	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	52	23.53	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD	p.P221S	ENST00000269197.5	37	c.661	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220671	0.58560	.	.	ENSG00000141431	ENST00000269197	T	0.14893	2.47	5.67	5.67	0.87782	.	.	.	.	.	T	0.23133	0.0559	N	0.08118	0	0.45867	D	0.998724	D	0.89917	1.0	D	0.85130	0.997	T	0.22452	-1.0216	9	0.12766	T	0.61	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	221	Q9C0F0	ASXL3_HUMAN	S	221	ENSP00000269197:P221S	ENSP00000269197:P221S	P	+	1	0	ASXL3	29505774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.634000	0.67833	2.835000	0.97688	0.591000	0.81541	CCC	-	NULL		0.318	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	C		-		31251776	1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31251776	C	T	31251776	3	4	203	1	0	0	0	0	1	0	0	0	1068	855	30	2	687	2	ASXL3	18	31251776	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	10196770	31251776	46825472	404	16434											
ZNF397OS	100101467	genome.wustl.edu	37	chr18	32843492	32843492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctctctcctggaaagCctgggactcctgagtctcag	9	15	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:32843492C>T	ENST00000420878.3	-	4	993	c.538G>A	c.(538-540)Gct>Act	p.A180T	ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_3'UTR|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.A180T|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.A180T|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.A180T	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	180					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)			large_intestine(5)|lung(3)|urinary_tract(1)	9						TCCTGGAAAGCCTGGGACTCC	0.537																																																	0								ENSG00000186814						105	97	100					18																	32843492		1568	3582	5150	ZSCAN30	SO:0001583	missense	0			-	HGNC	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"-", "Zinc fingers, C2H2-type"	33517	protein-coding gene	gene with protein product			"zinc finger protein 397 opposite strand", "ZNF397 opposite strand"	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.538G>A	18.37:g.32843492C>T	ENSP00000392371:p.Ala180Thr	Somatic	0	59	0		0.41568620468393	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A180T	ENST00000420878.3	37	c.538	CCDS42427.1	18	.	.	.	.	.	.	.	.	.	.	C	3.218	-0.160082	0.06502	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000383091	T;T;T	0.06687	3.27;3.27;4.27	3.78	0.901	0.19284	.	.	.	.	.	T	0.05547	0.0146	L	0.34521	1.04	0.09310	N	1	B;B	0.17465	0.022;0.003	B;B	0.12837	0.008;0.004	T	0.46911	-0.9157	9	0.10111	T	0.7	.	6.5582	0.22471	0.0:0.677:0.0:0.323	.	180;180	C9JCM2;Q86W11	.;ZSC30_HUMAN	T	180	ENSP00000392371:A180T;ENSP00000329738:A180T;ENSP00000372569:A180T	ENSP00000329738:A180T	A	-	1	0	ZSCAN30	31097490	0.000000	0.05858	0.068000	0.19968	0.661000	0.39034	-0.861000	0.04268	0.172000	0.19760	0.455000	0.32223	GCT	-	NULL		0.537	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZSCAN30	protein_coding	OTTHUMT00000442510.1	C	NM_001112734	-		32843492	-1	no_errors	ENST00000333206	ensembl	human	known	74_37	missense	SNP	0.078	T	T	32843492	C	T	32843492	3	4	203	1	0	0	0	0	1	0	0	0	17891	739	26	2	954	2	ZNF397OS	18	32843492	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1591716	32843492	45233756	405	16435											
PIGN	23556	genome.wustl.edu	37	chr18	59824376	59824376	+	Missense_Mutation	SNP	G	G	A													tcttacctttggcaaacataGgcaggatatctgggcttccc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:59824376G>A	ENST00000357637.5	-	6	843	c.428C>T	c.(427-429)cCt>cTt	p.P143L	PIGN_ENST00000400334.3_Missense_Mutation_p.P143L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	143					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GGCAAACATAGGCAGGATATC	0.358																																																	0								ENSG00000197563						69	67	67					18																	59824376		1834	4098	5932	PIGN	SO:0001583	missense	0			-	HGNC	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.428C>T	18.37:g.59824376G>A	ENSP00000350263:p.Pro143Leu	Somatic	0	61	0		0.41568620468393	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP							pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P143L	ENST00000357637.5	37	c.428	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619616	0.66787	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.70986	-0.53;-0.53	5.17	5.17	0.71159	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.304009	0.36268	N	0.002699	D	0.83811	0.5335	M	0.82823	2.61	0.80722	D	1	P;P	0.52170	0.951;0.874	P;P	0.58873	0.847;0.695	D	0.84785	0.0775	9	.	.	.	-3.4853	19.028	0.92941	0.0:0.0:1.0:0.0	.	143;143	B2RCI8;O95427	.;PIGN_HUMAN	L	143	ENSP00000350263:P143L;ENSP00000383188:P143L	.	P	-	2	0	PIGN	57975356	1.000000	0.71417	0.955000	0.39395	0.928000	0.56348	5.556000	0.67307	2.554000	0.86153	0.561000	0.74099	CCT	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.358	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	protein_coding	OTTHUMT00000449757.2	G	NM_176787	-		59824376	-1	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59824376	G	A	59824376	3	1	203	1	0	0	0	0	1	0	0	0	11895	1000	35	2	2471	2	PIGN	18	59824376	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	26980884	59824376	18252872	406	16436	462	2									
PIGN	23556	genome.wustl.edu	37	chr18	59824377	59824377	+	Missense_Mutation	SNP	G	G	A													cttacctttggcaaacatagGcaggatatctgggcttcccc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:59824377G>A	ENST00000357637.5	-	6	842	c.427C>T	c.(427-429)Cct>Tct	p.P143S	PIGN_ENST00000400334.3_Missense_Mutation_p.P143S	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	143					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GCAAACATAGGCAGGATATCT	0.358																																																	0								ENSG00000197563						68	66	67					18																	59824377		1834	4097	5931	PIGN	SO:0001583	missense	0			-	HGNC	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.427C>T	18.37:g.59824377G>A	ENSP00000350263:p.Pro143Ser	Somatic	0	60	0		0.41568620468393	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP							pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P143S	ENST00000357637.5	37	c.427	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538908	0.45176	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.70986	-0.53;-0.53	5.17	0.82	0.18793	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.304009	0.36268	N	0.002699	T	0.64538	0.2607	M	0.62088	1.915	0.58432	D	0.999991	B;B	0.34147	0.438;0.219	B;B	0.41646	0.362;0.261	T	0.53194	-0.8473	9	.	.	.	-3.4853	3.2932	0.06957	0.1625:0.1353:0.5721:0.1301	.	143;143	B2RCI8;O95427	.;PIGN_HUMAN	S	143	ENSP00000350263:P143S;ENSP00000383188:P143S	.	P	-	1	0	PIGN	57975357	1.000000	0.71417	0.760000	0.31359	0.905000	0.53344	3.187000	0.50950	-0.106000	0.12110	0.561000	0.74099	CCT	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.358	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	protein_coding	OTTHUMT00000449757.2	G	NM_176787	-		59824377	-1	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	SNP	1.000	A	A	59824377	G	A	59824377	3	1	203	1	0	0	0	0	1	0	0	0	11895	1203	42	2	2472	2	PIGN	18	59824377	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	59824377	18252871	407	16437	462	2									
SERPINB12	89777	genome.wustl.edu	37	chr18	61233951	61233951	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccctggaagacagctatGatctcaattccattttacaa	5	11	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr18:61233951G>A	ENST00000269491.1	+	7	925	c.925G>A	c.(925-927)Gat>Aat	p.D309N	SERPINB12_ENST00000382768.1_Missense_Mutation_p.D329N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	309					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						AGACAGCTATGATCTCAATTC	0.453																																																	0								ENSG00000166634						190	186	187					18																	61233951		2203	4300	6503	SERPINB12	SO:0001583	missense	0			-	HGNC	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.925G>A	18.37:g.61233951G>A	ENSP00000269491:p.Asp309Asn	Somatic	0	59	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q3SYB4	Missense_Mutation	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D309N	ENST00000269491.1	37	c.925	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259999	0.23051	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.83914	-1.78;-1.78	5.81	3.1	0.35709	Serpin domain (3);	0.346611	0.27991	N	0.017029	T	0.73853	0.3640	L	0.42529	1.33	0.09310	N	1	B;B	0.28419	0.128;0.211	B;B	0.29524	0.103;0.053	T	0.63256	-0.6678	10	0.46703	T	0.11	.	5.8332	0.18593	0.2669:0.0:0.6097:0.1234	.	329;309	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	309;329	ENSP00000269491:D309N;ENSP00000372218:D329N	ENSP00000269491:D309N	D	+	1	0	SERPINB12	59384931	0.000000	0.05858	0.002000	0.10522	0.632000	0.37999	0.954000	0.29175	0.394000	0.25230	-0.136000	0.14681	GAT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	protein_coding	OTTHUMT00000256197.1	G	NM_080474	-		61233951	1	no_errors	ENST00000269491	ensembl	human	known	74_37	missense	SNP	0.000	A	A	61233951	G	A	61233951	3	1	203	1	0	0	0	0	1	0	0	0	14107	1290	45	2	951	2	SERPINB12	18	61233951	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1409574	61233951	16843297	408	16438											
MUC16	94025	genome.wustl.edu	37	chr19	9086552	9086552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccacatcaggagttgtagGagatgaggttagagggatgc	15	5	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:9086552G>A	ENST00000397910.4	-	1	5466	c.5263C>T	c.(5263-5265)Cct>Tct	p.P1755S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1755	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						GGAGTTGTAGGAGATGAGGTT	0.498																																																	0								ENSG00000181143						127	118	121					19																	9086552		1969	4157	6126	MUC16	SO:0001583	missense	0			-	HGNC	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.5263C>T	19.37:g.9086552G>A	ENSP00000381008:p.Pro1755Ser	Somatic	0	40	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P1755S	ENST00000397910.4	37	c.5263	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.413	-0.912388	0.02415	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	.	.	.	B	0.19817	0.039	B	0.14023	0.01	T	0.44787	-0.9305	8	0.87932	D	0	.	0.8391	0.01146	0.2293:0.3808:0.1943:0.1956	.	1755	B5ME49	.	S	1755	ENSP00000381008:P1755S	ENSP00000381008:P1755S	P	-	1	0	MUC16	8947552	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.207000	0.01230	-2.224000	0.00725	0.313000	0.20887	CCT	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9086552	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9086552	G	A	9086552	3	1	203	1	0	0	0	0	1	0	0	0	9975	1174	41	2	38596	2	MUC16	19	9086552	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		9086552	50042431	409	16439											
DNMT1	1786	genome.wustl.edu	37	chr19	10265626	10265628	+	In_Frame_Del	DEL	CTG	CTG	-													taggtcgagtcggaattgctCtgcaggaactccaccacaat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:10265626_10265628delCTG	ENST00000340748.4	-	19	1784_1786	c.1549_1551delCAG	c.(1549-1551)cagdel	p.Q517del	DNMT1_ENST00000359526.4_In_Frame_Del_p.Q533del|DNMT1_ENST00000540357.1_In_Frame_Del_p.Q517del			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	517	DNA replication foci-targeting sequence. {ECO:0000250}.|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)	p.Q517P(1)		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)	CGGAATTGCTCTGCAGGAACTCC	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000130816																																			DNMT1	SO:0001651	inframe_deletion	0				HGNC	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.1549_1551delCAG	19.37:g.10265626_10265628delCTG	ENSP00000345739:p.Gln517del	Somatic	0	74	0		0.41568620468393	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	In_Frame_Del	DEL							pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.Q533in_frame_del	ENST00000340748.4	37	c.1599_1597	CCDS12228.1	19																																																																																			-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD		0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	protein_coding	OTTHUMT00000451166.1	CTG	NM_001379			10265628	-1	no_errors	ENST00000359526	ensembl	human	known	74_37	in_frame_del	DEL	0.985:1.000:1.000	-	-	10265628	CTG	-	10265626	7	5	203	1	0	1	0	1	0	0	0	0	4677	912	32	0	3387	0	DNMT1	19	10265626	In_Frame_Del	DEL	CTG	TCGA-QQ-A5VD-01A-21D-A32I-09	1179074	10265626	48863357	410	16440											
ZNF709	163051	genome.wustl.edu	37	chr19	12575311	12575311	+	Silent	SNP	G	G	A													ccacactgtttacattcataGggtttctctccagtgtgaat							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:12575311G>A	ENST00000397732.3	-	4	1596	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.P475P	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACATTCATAGGGTTTCTCTC	0.398																																					GBM(33;565 669 12371 29134 51667)												0								ENSG00000242852						89	96	93					19																	12575311		2202	4300	6502	ZNF709	SO:0001819	synonymous_variant	0			-	HGNC	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1425C>T	19.37:g.12575311G>A		Somatic	0	133	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	67	27.96	A8K4E6	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P475	ENST00000397732.3	37	c.1425	CCDS42504.1	19																																																																																			-	pfscan_Znf_C2H2		0.398	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF709	protein_coding	OTTHUMT00000344088.1	G	NM_152601	-		12575311	-1	no_errors	ENST00000397732	ensembl	human	known	74_37	silent	SNP	0.034	A	A	12575311	G	A	12575311	2	1	203	1	0	0	0	0	0	0	0	1	18120	987	35	2		2	ZNF709	19	12575311	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2309685	12575311	46553672	411	16441	463	2									
ZNF709	163051	genome.wustl.edu	37	chr19	12575312	12575312	+	Missense_Mutation	SNP	G	G	A													cacactgtttacattcatagGgtttctctccagtgtgaatt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:12575312G>A	ENST00000397732.3	-	4	1595	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.P475L	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTCATAGGGTTTCTCTCC	0.403																																					GBM(33;565 669 12371 29134 51667)												0								ENSG00000242852						90	96	94					19																	12575312		2203	4300	6503	ZNF709	SO:0001583	missense	0			-	HGNC	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1424C>T	19.37:g.12575312G>A	ENSP00000380840:p.Pro475Leu	Somatic	0	133	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	66	29.03	A8K4E6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P475L	ENST00000397732.3	37	c.1424	CCDS42504.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604007	0.87157	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.17054	2.3;2.3	3.05	3.05	0.35203	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33772	N	0.004580	T	0.32496	0.0831	M	0.78223	2.4	0.43982	D	0.996673	P	0.52316	0.952	P	0.51945	0.685	T	0.36817	-0.9732	10	0.62326	D	0.03	.	13.9868	0.64341	0.0:0.0:1.0:0.0	.	475	Q8N972	ZN709_HUMAN	L	475	ENSP00000380840:P475L;ENSP00000404127:P475L	ENSP00000404127:P475L	P	-	2	0	ZNF709;CTD-2192J16.17	12436312	0.513000	0.26194	0.118000	0.21660	0.998000	0.95712	1.256000	0.32921	2.032000	0.59987	0.591000	0.81541	CCC	-	pfscan_Znf_C2H2		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF709	protein_coding	OTTHUMT00000344088.1	G	NM_152601	-		12575312	-1	no_errors	ENST00000397732	ensembl	human	known	74_37	missense	SNP	0.967	A	A	12575312	G	A	12575312	3	1	203	1	0	0	0	0	1	0	0	0	18120	1232	43	2	505	2	ZNF709	19	12575312	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	12575312	46553671	412	16442	463	2									
ZNF431	170959	genome.wustl.edu	37	chr19	21326387	21326387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagtgtatcctctcaagGaagcaagtggatgccctggg	14	8	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:21326387G>A	ENST00000311048.7	+	2	181	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	ZNF431_ENST00000594425.1_Missense_Mutation_p.E13K|ZNF431_ENST00000600692.1_Missense_Mutation_p.E13K|ZNF431_ENST00000599296.1_Missense_Mutation_p.E13K	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	13					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTCTCAAGGAAGCAAGTGG	0.423																																																	0								ENSG00000196705						101	96	98					19																	21326387		2203	4300	6503	ZNF431	SO:0001583	missense	0			-	HGNC	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.37G>A	19.37:g.21326387G>A	ENSP00000308578:p.Glu13Lys	Somatic	0	107	0		0.41568620468393	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	A8KAK7|Q8IWC4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E13K	ENST00000311048.7	37	c.37	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	2.886	-0.230689	0.05983	.	.	ENSG00000196705	ENST00000311048	T	0.05855	3.38	0.461	-0.922	0.10468	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.18263	0.021	T	0.47058	-0.9146	8	0.07325	T	0.83	.	.	.	.	.	13	Q8TF32	ZN431_HUMAN	K	13	ENSP00000308578:E13K	ENSP00000308578:E13K	E	+	1	0	ZNF431	21118227	0.002000	0.14202	0.001000	0.08648	0.054000	0.15201	0.523000	0.22925	-0.484000	0.06763	0.298000	0.19748	GAA	-	NULL		0.423	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	protein_coding	OTTHUMT00000463943.1	G	XM_086098	-		21326387	1	no_errors	ENST00000311048	ensembl	human	known	74_37	missense	SNP	0.001	A	A	21326387	G	A	21326387	3	1	203	1	0	0	0	0	1	0	0	0	17912	1175	41	2	43	2	ZNF431	19	21326387	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	8751075	21326387	37802596	413	16443											
HPN	3249	genome.wustl.edu	37	chr19	35550807	35550807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactccgagctggacgtgcGaacggcgggcgccaatggca	15	14	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:35550807G>A	ENST00000262626.2	+	6	1145	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.R107Q|HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	107	SRCR.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGGACGTGCGAACGGCGGGC	0.706																																																	0								ENSG00000105707						10	10	10					19																	35550807		2171	4244	6415	HPN	SO:0001583	missense	0			-	HGNC		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.320G>A	19.37:g.35550807G>A	ENSP00000262626:p.Arg107Gln	Somatic	0	33	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	B2RDS4	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R107Q	ENST00000262626.2	37	c.320	CCDS32993.1	19	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917251	0.33815	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	T;T	0.60920	0.15;0.15	5.17	4.07	0.47477	Speract/scavenger receptor-related (1);Hepsin, SRCR (2);	0.218535	0.40469	N	0.001082	T	0.33411	0.0862	L	0.27053	0.805	0.80722	D	1	B;B	0.31581	0.329;0.098	B;B	0.14578	0.011;0.006	T	0.13791	-1.0496	10	0.13853	T	0.58	.	6.5301	0.22322	0.0964:0.1846:0.719:0.0	.	79;107	B7Z1L4;P05981	.;HEPS_HUMAN	Q	107;107;79	ENSP00000262626:R107Q;ENSP00000376060:R107Q	ENSP00000262626:R107Q	R	+	2	0	HPN	40242647	0.861000	0.29849	0.992000	0.48379	0.513000	0.34164	1.570000	0.36439	2.420000	0.82092	0.505000	0.49811	CGA	-	pfam_Hepsin-SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel		0.706	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	protein_coding	OTTHUMT00000461573.1	G	NM_002151	-		35550807	1	no_errors	ENST00000262626	ensembl	human	known	74_37	missense	SNP	0.886	A	A	35550807	G	A	35550807	3	1	203	1	0	0	0	0	1	0	0	0	7338	1058	37	1	338	1	HPN	19	35550807	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14224420	35550807	23578176	414	16444											
ZNF566	84924	genome.wustl.edu	37	chr19	36940504	36940504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgagtgagtcttgagGgatgtctaaaggactttcca	13	5	2	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:36940504G>A	ENST00000434377.2	-	5	713	c.632C>T	c.(631-633)cCc>cTc	p.P211L	ZNF566_ENST00000392170.2_Missense_Mutation_p.P212L|ZNF566_ENST00000424129.2_Missense_Mutation_p.P211L|ZNF566_ENST00000454319.1_Missense_Mutation_p.P212L|ZNF566_ENST00000493391.1_Missense_Mutation_p.P107L	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	211					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(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GAGTCTTGAGGGATGTCTAAA	0.383																																																	0								ENSG00000186017						80	81	80					19																	36940504		2203	4300	6503	ZNF566	SO:0001583	missense	0			-	HGNC	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.632C>T	19.37:g.36940504G>A	ENSP00000415520:p.Pro211Leu	Somatic	0	68	0		0.41568620468393	1	75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	B7ZL95|Q2M3J1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P212L	ENST00000434377.2	37	c.635	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	G	2.050	-0.417870	0.04766	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.53	3.98	0.264	0.15607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.158580	0.30177	N	0.010233	T	0.06508	0.0167	L	0.28740	0.885	0.37435	D	0.914209	B;B	0.06786	0.001;0.001	B;B	0.16722	0.003;0.016	T	0.28776	-1.0033	10	0.10636	T	0.68	.	1.9429	0.03350	0.1181:0.2031:0.4699:0.2089	.	212;211	B7ZL95;Q969W8	.;ZN566_HUMAN	L	212;211;212;211;211	ENSP00000394207:P212L;ENSP00000415520:P211L;ENSP00000376010:P212L;ENSP00000401259:P211L;ENSP00000411526:P211L	ENSP00000376010:P212L	P	-	2	0	ZNF566	41632344	0.001000	0.12720	0.986000	0.45419	0.767000	0.43475	0.285000	0.18883	0.432000	0.26286	0.555000	0.69702	CCC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	protein_coding	OTTHUMT00000341054.1	G	NM_032838	-		36940504	-1	no_errors	ENST00000392170	ensembl	human	known	74_37	missense	SNP	0.950	A	A	36940504	G	A	36940504	3	1	203	1	0	0	0	0	1	0	0	0	18004	1232	43	2	628	2	ZNF566	19	36940504	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1389697	36940504	22188479	415	16445											
ZNF570	148268	genome.wustl.edu	37	chr19	37975503	37975503	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcagagagttcacacgggaGagaaaccctatgaatgtatc	10	8	2	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:37975503G>T	ENST00000330173.1	+	5	1508	c.979G>T	c.(979-981)Gag>Tag	p.E327*	ZNF570_ENST00000388801.3_Nonsense_Mutation_p.E124*|ZNF570_ENST00000586475.1_Nonsense_Mutation_p.E383*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	327					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(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACGGGAGAGAAACCCTA	0.438																																																	0								ENSG00000171827						92	88	89					19																	37975503		2203	4300	6503	ZNF570	SO:0001587	stop_gained	0			-	HGNC	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.979G>T	19.37:g.37975503G>T	ENSP00000331540:p.Glu327*	Somatic	0	58	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A1L472|B4DMP1	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E327*	ENST00000330173.1	37	c.979	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.454091	0.99175	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	.	.	.	4.18	4.18	0.49190	.	0.000000	0.43110	D	0.000608	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.7734	0.78190	0.0:0.0:1.0:0.0	.	.	.	.	X	327;124	.	ENSP00000331540:E327X	E	+	1	0	ZNF570	42667343	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.355000	0.59424	2.317000	0.78254	0.563000	0.77884	GAG	-	pfscan_Znf_C2H2		0.438	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	protein_coding	OTTHUMT00000109600.1	G	NM_144694	-		37975503	1	no_errors	ENST00000330173	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	37975503	G	T	37975503	4	4	203	1	0	0	0	0	0	1	0	0	18009	943	33	3	993	3	ZNF570	19	37975503	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1034999	37975503	21153480	416	16446											
RYR1	6261	genome.wustl.edu	37	chr19	39051805	39051805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaatccagttcctgctttCgtgctccgaagcggatgaga	11	10	0	2	rs193922847		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:39051805C>T	ENST00000359596.3	+	90	12335	c.12335C>T	c.(12334-12336)tCg>tTg	p.S4112L	RYR1_ENST00000360985.3_Missense_Mutation_p.S4107L|RYR1_ENST00000355481.4_Missense_Mutation_p.S4107L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4112					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)	TTCCTGCTTTCGTGCTCCGAA	0.597																																																	0			GRCh37	CM071983	RYR1	M		ENSG00000196218						60	55	57					19																	39051805		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.12335C>T	19.37:g.39051805C>T	ENSP00000352608:p.Ser4112Leu	Somatic	0	72	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	43	24.56	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S4112L	ENST00000359596.3	37	c.12335	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665540	0.47677	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.79454	-1.27;-1.27;-1.27	3.52	3.52	0.40303	EF-hand-like domain (1);	0.000000	0.64402	U	0.000004	D	0.87204	0.6119	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79108	0.986;0.986;0.992	D	0.89130	0.3509	10	0.62326	D	0.03	.	15.2699	0.73693	0.0:1.0:0.0:0.0	.	4107;4107;4112	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	L	4112;4107;4107	ENSP00000352608:S4112L;ENSP00000347667:S4107L;ENSP00000354254:S4107L	ENSP00000347667:S4107L	S	+	2	0	RYR1	43743645	1.000000	0.71417	0.981000	0.43875	0.844000	0.47949	7.569000	0.82380	1.992000	0.58205	0.478000	0.44815	TCG	-	NULL		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		rs193922847		39051805	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	0.999	T	T	39051805	C	T	39051805	3	4	203	1	0	0	0	0	1	0	0	0	13776	893	31	1	12693	1	RYR1	19	39051805	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1076302	39051805	20077178	417	16447											
SUPT5H	6829	genome.wustl.edu	37	chr19	39961028	39961028	+	Frame_Shift_Del	DEL	C	C	-													ccctggcagctgaaggtgctCccccgggacctgcagctctg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:39961028delC	ENST00000599117.1	+	19	1909	c.1542delC	c.(1540-1542)ctcfs	p.L514fs	SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.L514fs|SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.L510fs|SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.L514fs|SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.L510fs			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	514					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)			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)			TGAAGGTGCTCCCCCGGGACC	0.647																																																	0								ENSG00000196235						81	80	80					19																	39961028		2203	4300	6503	SUPT5H	SO:0001589	frameshift_variant	0				HGNC	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.1542delC	19.37:g.39961028delC	ENSP00000470252:p.Leu514fs	Somatic	0	44	0		0.41568620468393	54	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	O43279|Q59G52|Q99639	Frame_Shift_Del	DEL							pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.R516fs	ENST00000599117.1	37	c.1542	CCDS12536.1	19																																																																																			-	superfamily_Translation_prot_SH3-like,pirsf_TF_Spt5		0.647	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	protein_coding	OTTHUMT00000464918.1	C	NM_003169			39961028	1	no_errors	ENST00000432763	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	39961028	C	-	39961028	7	5	203	1	0	1	0	1	0	0	0	0	15406	842	30	0	1608	0	SUPT5H	19	39961028	Frame_Shift_Del	DEL	C	TCGA-QQ-A5VD-01A-21D-A32I-09	909223	39961028	19167955	418	16448	464	2									
SUPT5H	6829	genome.wustl.edu	37	chr19	39961030	39961030	+	Missense_Mutation	SNP	C	C	T													ctggcagctgaaggtgctccCccgggacctgcagctctgct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:39961030C>T	ENST00000599117.1	+	19	1911	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	SUPT5H_ENST00000432763.2_Missense_Mutation_p.P515L|SUPT5H_ENST00000402194.2_Missense_Mutation_p.P511L|SUPT5H_ENST00000598725.1_Missense_Mutation_p.P515L|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P511L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	515					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)			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)			AAGGTGCTCCCCCGGGACCTG	0.647																																																	0								ENSG00000196235						81	80	80					19																	39961030		2203	4300	6503	SUPT5H	SO:0001583	missense	0			-	HGNC	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.1544C>T	19.37:g.39961030C>T	ENSP00000470252:p.Pro515Leu	Somatic	0	44	0		0.41568620468393	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	O43279|Q59G52|Q99639	Missense_Mutation	SNP							pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.P515L	ENST00000599117.1	37	c.1544	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.211557	0.95069	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.89	5.89	0.94794	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.83954	0.5366	M	0.86178	2.8	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.984	P;D;P	0.69824	0.904;0.966;0.885	D	0.84683	0.0718	8	.	.	.	-20.0724	19.0242	0.92926	0.0:1.0:0.0:0.0	.	307;511;515	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	L	515;511;493;515	.	.	P	+	2	0	SUPT5H	44652870	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.939000	0.70179	2.788000	0.95919	0.557000	0.71058	CCC	-	superfamily_Translation_prot_SH3-like,pirsf_TF_Spt5		0.647	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	protein_coding	OTTHUMT00000464918.1	C	NM_003169	-		39961030	1	no_errors	ENST00000432763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39961030	C	T	39961030	3	4	203	1	0	0	0	0	1	0	0	0	15406	623	22	2	1610	2	SUPT5H	19	39961030	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2	39961030	19167953	419	16449	464	2									
FCGBP	8857	genome.wustl.edu	37	chr19	40362864	40362864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcggaagtactcagagGgactcagcaccgcctggcag	14	11	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:40362864G>A	ENST00000221347.6	-	32	15213	c.15206C>T	c.(15205-15207)cCc>cTc	p.P5069L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5069						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)			GTACTCAGAGGGACTCAGCAC	0.647																																																	0								ENSG00000090920						88	93	92					19																	40362864		2203	4300	6503	FCGBP	SO:0001583	missense	0			-	HGNC	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.15206C>T	19.37:g.40362864G>A	ENSP00000221347:p.Pro5069Leu	Somatic	0	54	0		0.41568620468393	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P5069L	ENST00000221347.6	37	c.15206	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636101	0.67130	.	.	ENSG00000090920	ENST00000221347	T	0.79033	-1.23	4.68	3.61	0.41365	Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.88566	0.6471	M	0.89715	3.055	0.52099	D	0.999944	D	0.71674	0.998	D	0.76575	0.988	D	0.89115	0.3499	10	0.54805	T	0.06	.	11.0378	0.47811	0.0:0.0:0.8062:0.1938	.	5069	Q9Y6R7	FCGBP_HUMAN	L	5069	ENSP00000221347:P5069L	ENSP00000221347:P5069L	P	-	2	0	FCGBP	45054704	1.000000	0.71417	0.773000	0.31616	0.498000	0.33706	7.498000	0.81546	1.137000	0.42214	0.462000	0.41574	CCC	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890	-		40362864	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.998	A	A	40362864	G	A	40362864	3	1	203	1	0	0	0	0	1	0	0	0	5780	1232	43	2	1031	2	FCGBP	19	40362864	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	401834	40362864	18766119	420	16450											
LIPE	3991	genome.wustl.edu	37	chr19	42912445	42912445	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accagcccaatggagatggtCtgcaggaatggccggatggc	15	10	1	1	rs140139139		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:42912445C>T	ENST00000244289.4	-	3	1725	c.1449G>A	c.(1447-1449)caG>caA	p.Q483Q	LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	483					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGAGATGGTCTGCAGGAATG	0.617																																																	0								ENSG00000079435	C		1,4405	2.1+/-5.4	0,1,2202	164	154	157		1449	4.3	1	19	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous	LIPE	NM_005357.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		483/1077	42912445	1,13005	2203	4300	6503	LIPE	SO:0001819	synonymous_variant	0			-	HGNC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1449G>A	19.37:g.42912445C>T		Somatic	0	27	0		0.41568620468393	114	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q3LRT2|Q6NSL7	Silent	SNP							pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.Q483	ENST00000244289.4	37	c.1449	CCDS12607.1	19																																																																																			-	pfam_HSL_N		0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	protein_coding	OTTHUMT00000463861.1	C	NM_005357	rs140139139		42912445	-1	no_errors	ENST00000244289	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42912445	C	T	42912445	2	4	203	1	0	0	0	0	0	0	0	1	8823	912	32	2		2	LIPE	19	42912445	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2549581	42912445	16216538	421	16451											
CEACAM1	634	genome.wustl.edu	37	chr19	43031473	43031473	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaggagaagaacctccttCccctctgcaacattgaatgg	8	12	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:43031473C>T	ENST00000161559.6	-	2	278	c.144G>A	c.(142-144)ggG>ggA	p.G48G	CEACAM1_ENST00000599389.1_Silent_p.G48G|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Silent_p.G48G|CEACAM1_ENST00000403461.1_Silent_p.G48G|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000358394.3_Silent_p.G48G|CEACAM1_ENST00000308072.4_Silent_p.G8G|CEACAM1_ENST00000351134.3_Silent_p.G48G|CEACAM1_ENST00000403444.3_Silent_p.G48G|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	48	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GAACCTCCTTCCCCTCTGCAA	0.512																																																	0								ENSG00000079385						181	154	163					19																	43031473		2203	4300	6503	CEACAM1	SO:0001819	synonymous_variant	0			-	HGNC	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.144G>A	19.37:g.43031473C>T		Somatic	0	118	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	65	19.75	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G48	ENST00000161559.6	37	c.144	CCDS12609.1	19																																																																																			-	pfam_Ig_V-set,smart_Ig_sub		0.512	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	protein_coding	OTTHUMT00000321190.2	C	NM_001712	-		43031473	-1	no_errors	ENST00000161559	ensembl	human	known	74_37	silent	SNP	0.002	T	T	43031473	C	T	43031473	2	4	203	1	0	0	0	0	0	0	0	1	3189	842	30	2		2	CEACAM1	19	43031473	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	119028	43031473	16097510	422	16452											
PSG11	5680	genome.wustl.edu	37	chr19	43519381	43519381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagggataaagagctttTgtcctgatagctgaaacttc	10	7	1	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:43519381T>C	ENST00000401740.1	-	4	954	c.851A>G	c.(850-852)cAa>cGa	p.Q284R	PSG11_ENST00000403486.1_Missense_Mutation_p.Q162R|PSG11_ENST00000320078.7_Missense_Mutation_p.Q284R|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000306322.7_Missense_Mutation_p.Q162R			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	293	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AAAGAGCTTTTGTCCTGATAG	0.463																																																	0								ENSG00000243130						166	167	167					19																	43519381		2199	4297	6496	PSG11	SO:0001583	missense	0			-	HGNC	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.851A>G	19.37:g.43519381T>C	ENSP00000384995:p.Gln284Arg	Somatic	0	238	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	153	19.90	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q284R	ENST00000401740.1	37	c.851	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	t	3.858	-0.030480	0.07543	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	0.976	-1.1	0.09872	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10165	0.0249	L	0.38692	1.165	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.27608	0.081;0.017	T	0.39683	-0.9602	9	0.56958	D	0.05	.	3.2439	0.06791	0.0:0.0:0.4496:0.5504	.	162;284	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	R	284;162;162;284	ENSP00000319140:Q284R;ENSP00000385427:Q162R;ENSP00000304913:Q162R;ENSP00000384995:Q284R	ENSP00000304913:Q162R	Q	-	2	0	PSG11	48211221	0.001000	0.12720	0.005000	0.12908	0.012000	0.07955	0.056000	0.14256	0.382000	0.24878	0.155000	0.16302	CAA	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.463	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	protein_coding	OTTHUMT00000323079.1	T	NM_002785	-		43519381	-1	no_errors	ENST00000320078	ensembl	human	known	74_37	missense	SNP	0.001	C	C	43519381	T	C	43519381	3	2	203	1	0	0	0	0	1	0	0	0	12659	1812	63	5	164	5	PSG11	19	43519381	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	487908	43519381	15609602	423	16453											
ZNF428	126299	genome.wustl.edu	37	chr19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-													aggttccctcctcctcctctTcctcctcctcctcccgccca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	153	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66																																																	0								ENSG00000131116																																			ZNF428	SO:0001651	inframe_deletion	0				HGNC	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"Zinc fingers, C2H2-type"	20804	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 37"	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.459_461delGGA	19.37:g.44111884_44111886delTCC	ENSP00000300811:p.Glu158del	Somatic	0	55	0		0.41568620468393	131	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O95054|Q6X3Y3	In_Frame_Del	DEL							pfscan_Znf_C2H2	p.E157in_frame_del	ENST00000300811.3	37	c.461_459	CCDS12626.1	19																																																																																			-	NULL		0.66	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF428	protein_coding	OTTHUMT00000463349.1	TCC	NM_182498			44111877	-1	no_errors	ENST00000300811	ensembl	human	known	74_37	in_frame_del	DEL	0.006:0.005:0.000	-	-	44111877	TCC	-	44111875	7	5	203	1	0	1	0	1	0	0	0	0	17908	1783	62	0	109	0	ZNF428	19	44111875	In_Frame_Del	DEL	TCC	TCGA-QQ-A5VD-01A-21D-A32I-09	592494	44111875	15017108	424	16454											
ZNF404	342908	genome.wustl.edu	37	chr19	44378125	44378125	+	Missense_Mutation	SNP	G	G	A													tctgaaaataaacctcataaGgttgaaggttttatttcttt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:44378125G>A	ENST00000587539.1	-	3	240	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	ZNF404_ENST00000324394.6_Missense_Mutation_p.L79F	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	81					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(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AACCTCATAAGGTTGAAGGTT	0.328																																																	0								ENSG00000176222						91	94	93					19																	44378125		1834	4076	5910	ZNF404	SO:0001583	missense	0			-	HGNC	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.241C>T	19.37:g.44378125G>A	ENSP00000466051:p.Leu81Phe	Somatic	0	44	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A4FU30|K7ELF2	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L81F	ENST00000587539.1	37	c.241	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.408304	0.01155	.	.	ENSG00000176222	ENST00000324394	T	0.07688	3.17	3.57	-1.53	0.08611	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.32543	0.375	B	0.39590	0.304	T	0.44711	-0.9310	9	0.09084	T	0.74	.	4.1465	0.10219	0.5617:0.1971:0.2412:0.0	.	81	Q494X3	ZN404_HUMAN	F	79	ENSP00000319479:L79F	ENSP00000319479:L79F	L	-	1	0	ZNF404	49069965	0.000000	0.05858	0.011000	0.14972	0.346000	0.29079	-0.022000	0.12480	-0.089000	0.12484	0.536000	0.68110	CTT	-	NULL		0.328	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	protein_coding	OTTHUMT00000460019.1	G	NM_001033719	-		44378125	-1	no_errors	ENST00000587539	ensembl	human	known	74_37	missense	SNP	0.015	A	A	44378125	G	A	44378125	3	1	203	1	0	0	0	0	1	0	0	0	17893	1000	35	2	1421	2	ZNF404	19	44378125	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	266250	44378125	14750858	425	16455	465	2									
ZNF404	342908	genome.wustl.edu	37	chr19	44378126	44378126	+	Silent	SNP	G	G	A													ctgaaaataaacctcataagGttgaaggttttatttctttt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:44378126G>A	ENST00000587539.1	-	3	239	c.240C>T	c.(238-240)aaC>aaT	p.N80N	ZNF404_ENST00000324394.6_Silent_p.N78N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	80					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(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ACCTCATAAGGTTGAAGGTTT	0.328																																																	0								ENSG00000176222						90	92	92					19																	44378126		1834	4077	5911	ZNF404	SO:0001819	synonymous_variant	0			-	HGNC	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.240C>T	19.37:g.44378126G>A		Somatic	0	44	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	A4FU30|K7ELF2	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N80	ENST00000587539.1	37	c.240	CCDS59394.1	19																																																																																			-	NULL		0.328	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	protein_coding	OTTHUMT00000460019.1	G	NM_001033719	-		44378126	-1	no_errors	ENST00000587539	ensembl	human	known	74_37	silent	SNP	0.004	A	A	44378126	G	A	44378126	2	1	203	1	0	0	0	0	0	0	0	1	17893	1252	44	2		2	ZNF404	19	44378126	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	44378126	14750857	426	16456	465	2									
ALDH16A1	126133	genome.wustl.edu	37	chr19	49964114	49964114	+	Frame_Shift_Del	DEL	T	T	-													tcctgccacccacattctccTtccttgagatgatgtggagg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:49964114delT	ENST00000293350.4	+	5	698	c.535delT	c.(535-537)ttcfs	p.F179fs	ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.F14fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.F179fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.F16fs|CTD-3148I10.9_ENST00000599536.1_5'Flank	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	179						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)		CACATTCTCCTTCCTTGAGAT	0.547																																																	0								ENSG00000161618						98	89	92					19																	49964114		2203	4299	6502	ALDH16A1	SO:0001589	frameshift_variant	0				HGNC	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.535delT	19.37:g.49964114delT	ENSP00000293350:p.Phe179fs	Somatic	0	33	0		0.41568620468393	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Frame_Shift_Del	DEL							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.F179fs	ENST00000293350.4	37	c.535	CCDS12766.1	19																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.547	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	protein_coding	OTTHUMT00000465358.1	T	NM_153329			49964114	1	no_errors	ENST00000293350	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-	-	49964114	T	-	49964114	7	5	203	1	0	1	0	1	0	0	0	0	488	1609	56	0	553	0	ALDH16A1	19	49964114	Frame_Shift_Del	DEL	T	TCGA-QQ-A5VD-01A-21D-A32I-09	5585988	49964114	9164869	427	16457											
SIGLEC10	89790	genome.wustl.edu	37	chr19	51919600	51919600	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaatgctgataacaaggtCtctgggggcatctgcaacaa	11	8	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:51919600C>T	ENST00000339313.5	-	4	834	c.718G>A	c.(718-720)Gac>Aac	p.D240N	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.D240N|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.D157N|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.D182N|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.D240N|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.D240N|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.D182N|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.D182N|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.D192N			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	240					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATAACAAGGTCTCTGGGGGCA	0.522																																																	0								ENSG00000142512						117	117	117					19																	51919600		2203	4300	6503	SIGLEC10	SO:0001583	missense	0			-	HGNC	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.718G>A	19.37:g.51919600C>T	ENSP00000345243:p.Asp240Asn	Somatic	0	334	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	160	26.27	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D240N	ENST00000339313.5	37	c.718	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	2.814	-0.246397	0.05867	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;T;T;T;T;T;T;T;T	0.60920	1.06;2.15;1.77;0.93;2.12;1.96;0.78;2.03;0.93;0.15	4.41	-4.18	0.03846	Immunoglobulin-like fold (1);	1.268410	0.05440	N	0.547427	T	0.23370	0.0565	N	0.02960	-0.455	0.09310	N	1	B;B;B;B;B;B;B	0.27765	0.058;0.188;0.014;0.044;0.095;0.003;0.026	B;B;B;B;B;B;B	0.26969	0.023;0.062;0.013;0.051;0.075;0.006;0.056	T	0.10543	-1.0625	10	0.11485	T	0.65	.	1.5562	0.02585	0.1396:0.3743:0.1297:0.3564	.	192;240;182;240;182;182;240	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	N	240;157;182;240;182;240;182;192;240;54	ENSP00000342389:D240N;ENSP00000396742:D157N;ENSP00000395475:D182N;ENSP00000348646:D240N;ENSP00000408387:D182N;ENSP00000431444:D240N;ENSP00000389132:D182N;ENSP00000414324:D192N;ENSP00000345243:D240N;ENSP00000435281:D54N	ENSP00000345243:D240N	D	-	1	0	SIGLEC10	56611412	0.000000	0.05858	0.004000	0.12327	0.279000	0.26890	-0.765000	0.04730	-0.542000	0.06249	0.313000	0.20887	GAC	-	NULL		0.522	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	protein_coding	OTTHUMT00000384620.2	C	NM_033130	-		51919600	-1	no_errors	ENST00000339313	ensembl	human	known	74_37	missense	SNP	0.004	T	T	51919600	C	T	51919600	3	4	203	1	0	0	0	0	1	0	0	0	14314	913	32	2	1407	2	SIGLEC10	19	51919600	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1955486	51919600	7209383	428	16458											
CEACAM18	729767	genome.wustl.edu	37	chr19	51981872	51981872	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtctctggagggacccctCctcctggaggaccccaggca	13	15	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:51981872C>T	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Silent_p.L53L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGACCCCTCCTCCTGGAGG	0.627																																																	0								ENSG00000213822						30	35	33					19																	51981872		1976	4142	6118	CEACAM18	SO:0001631	upstream_gene_variant	0			-	HGNC			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981872C>T	Exception_encountered	Somatic	0	58	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	57	14.93	C9JN24	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L53	ENST00000396477.4	37	c.159		19																																																																																			-	NULL		0.627	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	protein_coding	OTTHUMT00000323114.2	C		-		51981872	1	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	SNP	0.000	T	T	51981872	C	T	51981872	1	4	203	0	1	0	0	0	0	0	0	0	3191	842	30	2		2	CEACAM18	19	51981872	5'Flank	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	62272	51981872	7147111	429	16459											
ZNF613	79898	genome.wustl.edu	37	chr19	52443920	52443920	+	Missense_Mutation	SNP	C	C	T													tcaagttggaacaaggagagCcatggacagtagaaaatgaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:52443920C>T	ENST00000293471.6	+	5	872	c.193C>T	c.(193-195)Cca>Tca	p.P65S	ZNF613_ENST00000391794.4_Missense_Mutation_p.P29S	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	65	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACAAGGAGAGCCATGGACAGT	0.468																																																	0								ENSG00000176024						137	116	123					19																	52443920		2203	4300	6503	ZNF613	SO:0001583	missense	0			-	HGNC	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.193C>T	19.37:g.52443920C>T	ENSP00000293471:p.Pro65Ser	Somatic	0	53	0		0.41568620468393	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q96SS9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P65S	ENST00000293471.6	37	c.193	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412563	0.04799	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.08282	3.21;3.11	2.78	1.73	0.24493	Krueppel-associated box (2);	3.297840	0.01124	N	0.005844	T	0.13157	0.0319	M	0.73319	2.225	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.32455	-0.9906	10	0.54805	T	0.06	.	5.8151	0.18488	0.0:0.8509:0.0:0.1491	.	65	Q6PF04	ZN613_HUMAN	S	65;29	ENSP00000293471:P65S;ENSP00000375671:P29S	ENSP00000293471:P65S	P	+	1	0	ZNF613	57135732	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	0.005000	0.13129	0.738000	0.32606	0.563000	0.77884	CCA	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	protein_coding	OTTHUMT00000461104.2	C	NM_024840	-		52443920	1	no_errors	ENST00000293471	ensembl	human	known	74_37	missense	SNP	0.002	T	T	52443920	C	T	52443920	3	4	203	1	0	0	0	0	1	0	0	0	18045	739	26	2	203	2	ZNF613	19	52443920	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	462048	52443920	6685063	430	16460	466	2									
ZNF613	79898	genome.wustl.edu	37	chr19	52443921	52443921	+	Missense_Mutation	SNP	C	C	T													caagttggaacaaggagagcCatggacagtagaaaatgaaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:52443921C>T	ENST00000293471.6	+	5	873	c.194C>T	c.(193-195)cCa>cTa	p.P65L	ZNF613_ENST00000391794.4_Missense_Mutation_p.P29L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	65	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CAAGGAGAGCCATGGACAGTA	0.463																																																	0								ENSG00000176024						135	114	121					19																	52443921		2203	4300	6503	ZNF613	SO:0001583	missense	0			-	HGNC	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.194C>T	19.37:g.52443921C>T	ENSP00000293471:p.Pro65Leu	Somatic	0	53	0		0.41568620468393	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	Q96SS9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P65L	ENST00000293471.6	37	c.194	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805693	0.16467	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.08458	3.17;3.09	2.78	-3.34	0.04943	Krueppel-associated box (2);	3.297840	0.01124	N	0.005844	T	0.08758	0.0217	L	0.49513	1.565	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.35226	-0.9797	10	0.42905	T	0.14	.	4.1519	0.10242	0.0:0.3505:0.1819:0.4676	.	65	Q6PF04	ZN613_HUMAN	L	65;29	ENSP00000293471:P65L;ENSP00000375671:P29L	ENSP00000293471:P65L	P	+	2	0	ZNF613	57135733	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.291000	0.02775	-0.672000	0.05266	-0.253000	0.11424	CCA	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.463	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	protein_coding	OTTHUMT00000461104.2	C	NM_024840	-		52443921	1	no_errors	ENST00000293471	ensembl	human	known	74_37	missense	SNP	0.000	T	T	52443921	C	T	52443921	3	4	203	1	0	0	0	0	1	0	0	0	18045	594	21	2	204	2	ZNF613	19	52443921	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	52443921	6685062	431	16461	466	2									
ZNF324B	388569	genome.wustl.edu	37	chr19	58966802	58966802	+	Missense_Mutation	SNP	C	C	T													catcagcctgcgactgacctCcccactcaggccccccaaga							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:58966802C>T	ENST00000336614.4	+	4	598	c.491C>T	c.(490-492)tCc>tTc	p.S164F	ZNF324B_ENST00000391696.1_Missense_Mutation_p.S154F|ZNF324B_ENST00000545523.1_Missense_Mutation_p.S164F	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	164					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(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)		CGACTGACCTCCCCACTCAGG	0.652																																																	0								ENSG00000249471						52	59	57					19																	58966802		2203	4300	6503	ZNF324B	SO:0001583	missense	0			-	HGNC	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.491C>T	19.37:g.58966802C>T	ENSP00000337473:p.Ser164Phe	Somatic	0	60	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S164F	ENST00000336614.4	37	c.491	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091918	0.36952	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.08720	3.3;3.3;3.06	2.53	1.47	0.22746	.	0.198935	0.25250	N	0.032032	T	0.09069	0.0224	L	0.36672	1.1	0.09310	N	1	D;P	0.67145	0.996;0.69	P;B	0.55087	0.768;0.206	T	0.20571	-1.0271	10	0.11794	T	0.64	.	4.6745	0.12705	0.0:0.6926:0.0:0.3074	.	164;154	Q6AW86;C9JTQ8	Z324B_HUMAN;.	F	164;164;154	ENSP00000337473:S164F;ENSP00000438930:S164F;ENSP00000375578:S154F	ENSP00000337473:S164F	S	+	2	0	ZNF324B	63658614	0.433000	0.25562	0.013000	0.15412	0.044000	0.14063	-0.022000	0.12480	0.611000	0.30052	0.491000	0.48974	TCC	-	NULL		0.652	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	C	NM_207395	-		58966802	1	no_errors	ENST00000336614	ensembl	human	known	74_37	missense	SNP	0.032	T	T	58966802	C	T	58966802	3	4	203	1	0	0	0	0	1	0	0	0	17852	855	30	2	501	2	ZNF324B	19	58966802	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	6522881	58966802	162181	432	16462	467	2									
ZNF324B	388569	genome.wustl.edu	37	chr19	58966803	58966803	+	Silent	SNP	C	C	T													atcagcctgcgactgacctcCccactcaggccccccaagag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr19:58966803C>T	ENST00000336614.4	+	4	599	c.492C>T	c.(490-492)tcC>tcT	p.S164S	ZNF324B_ENST00000391696.1_Silent_p.S154S|ZNF324B_ENST00000545523.1_Silent_p.S164S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	164					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(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)		GACTGACCTCCCCACTCAGGC	0.652																																																	0								ENSG00000249471						52	59	56					19																	58966803		2203	4300	6503	ZNF324B	SO:0001819	synonymous_variant	0			-	HGNC	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.492C>T	19.37:g.58966803C>T		Somatic	0	60	0		0.41568620468393	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S164	ENST00000336614.4	37	c.492	CCDS33138.1	19																																																																																			-	NULL		0.652	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	C	NM_207395	-		58966803	1	no_errors	ENST00000336614	ensembl	human	known	74_37	silent	SNP	0.000	T	T	58966803	C	T	58966803	2	4	203	1	0	0	0	0	0	0	0	1	17852	610	22	2		2	ZNF324B	19	58966803	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	58966803	162180	433	16463	467	2									
SIRPB1	10326	genome.wustl.edu	37	chr20	1600523	1600523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcagtgctcacctgtgagtCtccccagcagtagcgtcatc	11	14	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:1600523C>T	ENST00000381605.4	-	1	132	c.68G>A	c.(67-69)aGa>aAa	p.R23K	SIRPB1_ENST00000381603.3_Missense_Mutation_p.R23K|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R23K|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R23K|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R23K	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	23			R -> G (in dbSNP:rs1535882).		cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTGTGAGTCTCCCCAGCAG	0.562																																																	0								ENSG00000101307						97	87	90					20																	1600523		2203	4300	6503	SIRPB1	SO:0001583	missense	0			-	HGNC	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.68G>A	20.37:g.1600523C>T	ENSP00000371018:p.Arg23Lys	Somatic	0	89	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP							pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R23K	ENST00000381605.4	37	c.68	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145458	0.09134	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.10192	4.44;4.77;2.9	1.85	-3.11	0.05299	Immunoglobulin-like (2);	3.043770	0.01395	U	0.013381	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17465	0.0;0.004;0.022	B;B;B	0.22601	0.002;0.002;0.04	T	0.26258	-1.0108	10	0.29301	T	0.29	.	0.2242	0.00172	0.2091:0.2806:0.2066:0.3037	.	23;23;23	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	K	23	ENSP00000371018:R23K;ENSP00000371016:R23K;ENSP00000279477:R23K	ENSP00000279477:R23K	R	-	2	0	SIRPB1	1548523	0.135000	0.22499	0.006000	0.13384	0.002000	0.02628	-0.391000	0.07323	-0.886000	0.03966	-0.485000	0.04761	AGA	-	pfscan_Ig-like_dom		0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	protein_coding	OTTHUMT00000077555.2	C	NM_006065	-		1600523	-1	no_errors	ENST00000279477	ensembl	human	known	74_37	missense	SNP	0.008	T	T	1600523	C	T	1600523	3	4	203	1	0	0	0	0	1	0	0	0	14341	913	32	2	2285	2	SIRPB1	20	1600523	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		1600523	61424997	434	16464											
CDC25B	994	genome.wustl.edu	37	chr20	3781927	3781927	+	Silent	SNP	A	A	G													agtcctgaccggaagatggaAgtggaggagctcagccccct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:3781927A>G	ENST00000245960.5	+	8	1429	c.732A>G	c.(730-732)gaA>gaG	p.E244E	CDC25B_ENST00000439880.2_Silent_p.E230E|CDC25B_ENST00000379598.5_Silent_p.E180E|CDC25B_ENST00000344256.6_Silent_p.E180E|CDC25B_ENST00000340833.4_Silent_p.E203E|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	244					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGAAGATGGAAGTGGAGGAGC	0.552																																																	0								ENSG00000101224						110	105	107					20																	3781927		2203	4300	6503	CDC25B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.732A>G	20.37:g.3781927A>G		Somatic	0	72	0		0.41568620468393	39	9.3	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP							pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E244	ENST00000245960.5	37	c.732	CCDS13067.1	20																																																																																			-	pfam_MPI_Phosphatase		0.552	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	protein_coding	OTTHUMT00000077779.2	A	NM_021874	-		3781927	1	no_errors	ENST00000245960	ensembl	human	known	74_37	silent	SNP	0.007	G	G	3781927	A	G	3781927	2	3	203	1	0	0	0	0	0	0	0	1	3065	69	3	5		5	CDC25B	20	3781927	Silent	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	2181404	3781927	59243593	435	16465	468	2									
CDC25B	994	genome.wustl.edu	37	chr20	3781928	3781928	+	Missense_Mutation	SNP	G	G	A													gtcctgaccggaagatggaaGtggaggagctcagccccctg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:3781928G>A	ENST00000245960.5	+	8	1430	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	CDC25B_ENST00000439880.2_Missense_Mutation_p.V231M|CDC25B_ENST00000379598.5_Missense_Mutation_p.V181M|CDC25B_ENST00000344256.6_Missense_Mutation_p.V181M|CDC25B_ENST00000340833.4_Missense_Mutation_p.V204M|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	245					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAAGATGGAAGTGGAGGAGCT	0.547																																																	0								ENSG00000101224						111	106	108					20																	3781928		2203	4300	6503	CDC25B	SO:0001583	missense	0			-	HGNC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.733G>A	20.37:g.3781928G>A	ENSP00000245960:p.Val245Met	Somatic	0	71	0		0.41568620468393	39	9.3	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP							pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.V245M	ENST00000245960.5	37	c.733	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	0.745	-0.774758	0.02951	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	4.53	0.302	0.15786	.	1.046520	0.07505	N	0.907851	T	0.16085	0.0387	N	0.12569	0.235	0.09310	N	1	B;B;B;B;B;B	0.22541	0.033;0.071;0.029;0.023;0.023;0.051	B;B;B;B;B;B	0.31016	0.055;0.123;0.078;0.029;0.047;0.071	T	0.40831	-0.9542	10	0.39692	T	0.17	-2.0736	7.5661	0.27879	0.3752:0.0:0.6248:0.0	.	181;167;181;204;231;245	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	M	181;181;245;231;204	ENSP00000339125:V181M;ENSP00000368918:V181M;ENSP00000245960:V245M;ENSP00000405972:V231M;ENSP00000339170:V204M	ENSP00000245960:V245M	V	+	1	0	CDC25B	3729928	0.000000	0.05858	0.026000	0.17262	0.043000	0.13939	0.285000	0.18883	-0.004000	0.14419	-1.069000	0.02264	GTG	-	pfam_MPI_Phosphatase		0.547	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	protein_coding	OTTHUMT00000077779.2	G	NM_021874	-		3781928	1	no_errors	ENST00000245960	ensembl	human	known	74_37	missense	SNP	0.001	A	A	3781928	G	A	3781928	3	1	203	1	0	0	0	0	1	0	0	0	3065	1029	36	2	763	2	CDC25B	20	3781928	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	3781928	59243592	436	16466	468	2									
C20orf196	149840	genome.wustl.edu	37	chr20	5843685	5843686	+	Frame_Shift_Del	DEL	AT	AT	-													tgcagacaccagtaacttaaAtatagaacaaaataactcct							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:5843685_5843686delAT	ENST00000303142.6	+	3	281_282	c.194_195delAT	c.(193-195)aatfs	p.N65fs		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	65										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGTAACTTAAATATAGAACAAA	0.421																																																	0								ENSG00000171984																																			C20orf196	SO:0001589	frameshift_variant	0				HGNC	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.194_195delAT	20.37:g.5843687_5843688delAT	ENSP00000305875:p.Asn65fs	Somatic	0	28	0		0.41568620468393	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	A8K9J3|Q5TGA9|Q96LU1	Frame_Shift_Del	DEL							NULL	p.I66fs	ENST00000303142.6	37	c.194_195	CCDS13091.1	20																																																																																			-	NULL		0.421	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	protein_coding	OTTHUMT00000077882.2	AT	NM_152504			5843686	1	no_errors	ENST00000303142	ensembl	human	known	74_37	frame_shift_del	DEL	0.004:0.003	-	-	5843686	AT	-	5843685	7	5	203	1	0	1	0	1	0	0	0	0	2103	101	4	0	200	0	C20orf196	20	5843685	Frame_Shift_Del	DEL	AT	TCGA-QQ-A5VD-01A-21D-A32I-09	2061757	5843685	57181835	437	16467											
PLCB1	23236	genome.wustl.edu	37	chr20	8708034	8708034	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtctccagtggaatTtgtagagtatccttgatttg	9	8	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:8708034T>A	ENST00000338037.6	+	17	1784	c.1757T>A	c.(1756-1758)tTt>tAt	p.F586Y	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.F586Y|PLCB1_ENST00000378641.3_Missense_Mutation_p.F586Y	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	586	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAGTGGAATTTGTAGAGTAT	0.358																																																	0								ENSG00000182621						78	74	76					20																	8708034		2203	4299	6502	PLCB1	SO:0001583	missense	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1757T>A	20.37:g.8708034T>A	ENSP00000338185:p.Phe586Tyr	Somatic	0	50	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP							pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F586Y	ENST00000338037.6	37	c.1757	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	T	32	5.158398	0.94686	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.68624	-0.34;-0.34;-0.34	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.124882	0.64402	D	0.000015	D	0.84297	0.5441	M	0.86953	2.85	0.58432	D	0.999998	P;D	0.76494	0.844;0.999	D;D	0.91635	0.93;0.999	D	0.87072	0.2160	10	0.87932	D	0	.	16.3892	0.83528	0.0:0.0:0.0:1.0	.	586;586	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Y	586;586;586;506;506	ENSP00000367908:F586Y;ENSP00000338185:F586Y;ENSP00000367904:F586Y	ENSP00000338185:F586Y	F	+	2	0	PLCB1	8656034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	TTT	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.358	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	T		-		8708034	1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8708034	T	A	8708034	3	1	203	1	0	0	0	0	1	0	0	0	12029	1841	64	5	1823	5	PLCB1	20	8708034	Missense_Mutation	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	2864349	8708034	54317486	438	16468											
CST9L	128821	genome.wustl.edu	37	chr20	23548949	23548949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactccactgtggcagggaGgtaacgagccatgacattgt	12	9	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:23548949G>A	ENST00000376979.3	-	1	437	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	47						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTGGCAGGGAGGTAACGAGCC	0.517																																																	0								ENSG00000101435						159	123	135					20																	23548949		2203	4300	6503	CST9L	SO:0001583	missense	0			-	HGNC		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.139C>T	20.37:g.23548949G>A	ENSP00000366178:p.Leu47Phe	Somatic	0	84	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	B2R5A1	Missense_Mutation	SNP							pfam_Prot_inh_cystat	p.L47F	ENST00000376979.3	37	c.139	CCDS13157.1	20	.	.	.	.	.	.	.	.	.	.	G	2.015	-0.426236	0.04701	.	.	ENSG00000101435	ENST00000376979	T	0.13307	2.6	1.36	-0.841	0.10752	Proteinase inhibitor I25, cystatin (1);	1.562760	0.04631	N	0.403623	T	0.07324	0.0185	N	0.11698	0.16	0.09310	N	1	B	0.17268	0.021	B	0.22386	0.039	T	0.37526	-0.9702	10	0.20046	T	0.44	.	3.9494	0.09363	0.4735:0.0:0.5265:0.0	.	47	Q9H4G1	CST9L_HUMAN	F	47	ENSP00000366178:L47F	ENSP00000366178:L47F	L	-	1	0	CST9L	23496949	0.000000	0.05858	0.006000	0.13384	0.771000	0.43674	-0.615000	0.05597	-0.264000	0.09365	0.313000	0.20887	CTC	-	NULL		0.517	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST9L	protein_coding	OTTHUMT00000078338.1	G	NM_080610	-		23548949	-1	no_errors	ENST00000376979	ensembl	human	known	74_37	missense	SNP	0.008	A	A	23548949	G	A	23548949	3	1	203	1	0	0	0	0	1	0	0	0	3982	1000	35	2	316	2	CST9L	20	23548949	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	14840915	23548949	39476571	439	16469											
C20orf3	57136	genome.wustl.edu	37	chr20	24952105	24952105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtcacatacgtttccaggGatttacttcaaatagtccct	6	10	2	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:24952105G>A	ENST00000217456.2	-	5	819	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Missense_Mutation_p.P177S	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	177					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CGTTTCCAGGGATTTACTTCA	0.418																																																	0								ENSG00000101474						59	59	59					20																	24952105		2203	4300	6503	APMAP	SO:0001583	missense	0			-	HGNC	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.529C>T	20.37:g.24952105G>A	ENSP00000217456:p.Pro177Ser	Somatic	0	73	0		0.41568620468393	76	30.28	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP							pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.P177S	ENST00000217456.2	37	c.529	CCDS13166.1	20	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572105	0.86542	.	.	ENSG00000101474	ENST00000217456;ENST00000447138	T;T	0.34275	1.37;1.37	5.17	5.17	0.71159	Six-bladed beta-propeller, TolB-like (1);	0.049489	0.85682	D	0.000000	T	0.52996	0.1769	M	0.77712	2.385	0.80722	D	1	D;P;P	0.61697	0.99;0.932;0.882	P;P;P	0.60886	0.88;0.469;0.473	T	0.51787	-0.8661	10	0.08381	T	0.77	-18.7832	14.5206	0.67847	0.0:0.0:1.0:0.0	.	177;161;177	Q9HDC9-2;A2A2F9;Q9HDC9	.;.;APMAP_HUMAN	S	177	ENSP00000217456:P177S;ENSP00000415373:P177S	ENSP00000217456:P177S	P	-	1	0	C20orf3	24900105	1.000000	0.71417	0.935000	0.37517	0.968000	0.65278	6.859000	0.75467	2.563000	0.86464	0.561000	0.74099	CCC	-	pfam_SGL		0.418	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	protein_coding	OTTHUMT00000078380.2	G	NM_020531	-		24952105	-1	no_errors	ENST00000217456	ensembl	human	known	74_37	missense	SNP	0.998	A	A	24952105	G	A	24952105	3	1	203	1	0	0	0	0	1	0	0	0	2111	1174	41	2	741	2	C20orf3	20	24952105	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1403156	24952105	38073415	440	16470											
POFUT1	23509	genome.wustl.edu	37	chr20	30822451	30822451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggccccctaagctgcGggacgagttctgattctggc	14	12	2	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:30822451G>T	ENST00000375749.3	+	7	1216	c.1154G>T	c.(1153-1155)cGg>cTg	p.R385L	POFUT1_ENST00000539210.1_Missense_Mutation_p.R174L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	385					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAAGCTGCGGGACGAGTTC	0.627																																																	0								ENSG00000101346						56	56	56					20																	30822451		2203	4300	6503	POFUT1	SO:0001583	missense	0			-	HGNC	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.1154G>T	20.37:g.30822451G>T	ENSP00000364902:p.Arg385Leu	Somatic	0	20	0		0.41568620468393	43	2.17	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP							pfam_GDP-Fuc_O-FucTrfase	p.R385L	ENST00000375749.3	37	c.1154	CCDS13198.1	20	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705015	0.68615	.	.	ENSG00000101346	ENST00000375749;ENST00000539210	T;T	0.33865	1.39;1.4	5.37	5.37	0.77165	.	0.249820	0.40728	N	0.001039	T	0.34948	0.0915	L	0.56769	1.78	0.51482	D	0.999923	P	0.40794	0.729	B	0.37480	0.251	T	0.18241	-1.0343	10	0.49607	T	0.09	-24.0802	12.7758	0.57445	0.0753:0.0:0.9247:0.0	.	385	Q9H488	OFUT1_HUMAN	L	385;174	ENSP00000364902:R385L;ENSP00000446154:R174L	ENSP00000364902:R385L	R	+	2	0	POFUT1	30286112	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.368000	0.73104	2.670000	0.90874	0.650000	0.86243	CGG	-	NULL		0.627	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT1	protein_coding	OTTHUMT00000078613.1	G	NM_015352	-		30822451	1	no_errors	ENST00000375749	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30822451	G	T	30822451	3	4	203	1	0	0	0	0	1	0	0	0	12185	1116	39	3	1227	3	POFUT1	20	30822451	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5870346	30822451	32203069	441	16471											
CPNE1	8904	genome.wustl.edu	37	chr20	34214297	34214297	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtctgtgccaatgcctcccGaggggcctgccaagaaaagg	14	12	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:34214297G>T	ENST00000317619.3	-	18	1874	c.1480C>A	c.(1480-1482)Cgg>Agg	p.R494R	CPNE1_ENST00000397446.1_Silent_p.R494R|CPNE1_ENST00000397442.1_Silent_p.R438R|CPNE1_ENST00000317677.5_Silent_p.R499R|CPNE1_ENST00000397445.1_Silent_p.R494R|CPNE1_ENST00000397443.1_Silent_p.R494R|CPNE1_ENST00000352393.4_Silent_p.R494R			Q99829	CPNE1_HUMAN	copine I	494	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AATGCCTCCCGAGGGGCCTGC	0.572																																																	0								ENSG00000214078						63	73	70					20																	34214297		2203	4300	6503	CPNE1	SO:0001819	synonymous_variant	0			-	HGNC	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1480C>A	20.37:g.34214297G>T		Somatic	0	62	0		0.41568620468393	256	44.59	206	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.R499	ENST00000317619.3	37	c.1495	CCDS13260.1	20																																																																																			-	NULL		0.572	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	protein_coding	OTTHUMT00000078909.3	G	NM_152930	-		34214297	-1	no_errors	ENST00000317677	ensembl	human	known	74_37	silent	SNP	0.923	T	T	34214297	G	T	34214297	2	4	203	1	0	0	0	0	0	0	0	1	3813	1057	37	3		3	CPNE1	20	34214297	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3391846	34214297	28811223	442	16472											
HNF4A	3172	genome.wustl.edu	37	chr20	43057040	43057040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatgcaggaacatatgGgaaccaacgtcatcgttgcc	10	11	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:43057040G>A	ENST00000316099.4	+	9	1284	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	HNF4A_ENST00000457232.1_Missense_Mutation_p.G377R|HNF4A_ENST00000415691.2_Missense_Mutation_p.G399R|HNF4A_ENST00000316673.4_Missense_Mutation_p.G377R	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	399					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACATATGGGAACCAACGT	0.602																																					Colon(79;2 1269 8820 14841 52347)												0								ENSG00000101076						119	85	97					20																	43057040		2203	4300	6503	HNF4A	SO:0001583	missense	0			-	HGNC	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1195G>A	20.37:g.43057040G>A	ENSP00000312987:p.Gly399Arg	Somatic	0	61	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.G399R	ENST00000316099.4	37	c.1195	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546189	0.45383	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.93	4.99	0.66335	.	0.461691	0.25091	N	0.033210	T	0.58566	0.2131	N	0.22421	0.69	0.42205	D	0.991783	B;B;B;B;B	0.12013	0.001;0.003;0.001;0.005;0.002	B;B;B;B;B	0.12837	0.003;0.006;0.003;0.006;0.008	T	0.54330	-0.8310	10	0.38643	T	0.18	.	15.0935	0.72215	0.0677:0.0:0.9323:0.0	.	392;399;399;377;377	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	R	377;377;399;429;399	ENSP00000315180:G377R;ENSP00000396216:G377R;ENSP00000312987:G399R;ENSP00000412111:G399R	ENSP00000312987:G399R	G	+	1	0	HNF4A	42490454	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.264000	0.78432	1.526000	0.49068	-0.251000	0.11542	GGA	-	NULL		0.602	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	protein_coding	OTTHUMT00000079363.3	G		-		43057040	1	no_errors	ENST00000316099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	43057040	G	A	43057040	3	1	203	1	0	0	0	0	1	0	0	0	7255	1233	43	2	1407	2	HNF4A	20	43057040	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	8842743	43057040	19968480	443	16473											
GNAS	2778	genome.wustl.edu	37	chr20	57430110	57430110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttcagcatcggcgaaAtcgccgccgccgaaagcccc	11	16	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:57430110A>G	ENST00000371100.4	+	1	2342	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.N597S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.I534V|GNAS_ENST00000371099.2_Missense_Mutation_p.N597S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATCGGCGAAATCGCCGCCGC	0.627			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0								ENSG00000087460						20	26	24					20																	57430110		2001	4165	6166	GNAS	SO:0001583	missense	0			-	HGNC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1790A>G	20.37:g.57430110A>G	ENSP00000360141:p.Asn597Ser	Somatic	0	47	0		0.41568620468393	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.N597S	ENST00000371100.4	37	c.1790	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.112|6.112	0.388856|0.388856	0.11581|0.11581	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102	.|D;D	.|0.88354	.|-2.37;-2.37	3.84|3.84	-1.0|-1.0	0.10196|0.10196	.|.	.|65.754300	.|0.00166	.|N	.|0.000000	D|D	0.85248|0.85248	0.5653|0.5653	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.65878|0.65878	-0.6061|-0.6061	6|10	0.06365|0.56958	T|D	0.9|0.05	.|.	3.6402|3.6402	0.08163|0.08163	0.4888:0.1994:0.3119:0.0|0.4888:0.1994:0.3119:0.0	.|.	.|597	.|Q5JWF2	.|GNAS1_HUMAN	V|S	534|597	.|ENSP00000360141:N597S;ENSP00000360143:N597S	ENSP00000302237:I534V|ENSP00000360140:N597S	I|N	+|+	1|2	0|0	GNAS|GNAS	56863505|56863505	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.088000|0.088000	0.18126|0.18126	-0.105000|-0.105000	0.10907|0.10907	-0.147000|-0.147000	0.11254|0.11254	0.379000|0.379000	0.24179|0.24179	ATC|AAT	-	NULL		0.627	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	protein_coding	OTTHUMT00000080417.3	A	NM_000516	-		57430110	1	no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	SNP	0.000	G	G	57430110	A	G	57430110	3	3	203	1	0	0	0	0	1	0	0	0	6512	101	4	5	2534	5	GNAS	20	57430110	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	14373070	57430110	5595410	444	16474											
ZNF831	128611	genome.wustl.edu	37	chr20	57766556	57766556	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccagtgttctagagaAgcacatccggtcccacacgg	11	13	1	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:57766556A>C	ENST00000371030.2	+	1	482	c.482A>C	c.(481-483)aAg>aCg	p.K161T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	161							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTTCTAGAGAAGCACATCCGG	0.637																																																	0								ENSG00000124203						82	88	86					20																	57766556		2096	4225	6321	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.482A>C	20.37:g.57766556A>C	ENSP00000360069:p.Lys161Thr	Somatic	0	57	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K161T	ENST00000371030.2	37	c.482	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703903	0.68501	.	.	ENSG00000124203	ENST00000371030	T	0.20463	2.07	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34077	0.0885	N	0.26092	0.79	0.47009	D	0.999287	D	0.89917	1.0	D	0.91635	0.999	T	0.13764	-1.0497	9	0.72032	D	0.01	-19.0563	14.6234	0.68602	1.0:0.0:0.0:0.0	.	161	Q5JPB2	ZN831_HUMAN	T	161	ENSP00000360069:K161T	ENSP00000360069:K161T	K	+	2	0	ZNF831	57199951	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.427000	0.80284	2.053000	0.61076	0.459000	0.35465	AAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	A	NM_178457	-		57766556	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	1.000	C	C	57766556	A	C	57766556	3	2	203	1	0	0	0	0	1	0	0	0	18192	72	3	5	484	5	ZNF831	20	57766556	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	336446	57766556	5258964	445	16475											
COL9A3	1299	genome.wustl.edu	37	chr20	61467646	61467646	+	Silent	SNP	C	C	T													cctctgggcctgcagggcgtCccgggtgttcctggcatcac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:61467646C>T	ENST00000343916.3	+	28	1512	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	503	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	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)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGCAGGGCGTCCCGGGTGTTC	0.657																																																	0								ENSG00000092758						32	41	38					20																	61467646		2201	4300	6501	COL9A3	SO:0001819	synonymous_variant	0			-	HGNC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1509C>T	20.37:g.61467646C>T		Somatic	0	67	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	Q13681|Q9H4G9|Q9UPE2	Silent	SNP							pfam_Collagen	p.V503	ENST00000343916.3	37	c.1509	CCDS13505.1	20																																																																																			-	pfam_Collagen		0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	protein_coding	OTTHUMT00000080071.2	C	NM_001853	-		61467646	1	no_errors	ENST00000343916	ensembl	human	known	74_37	silent	SNP	0.043	T	T	61467646	C	T	61467646	2	4	203	1	0	0	0	0	0	0	0	1	3711	842	30	2		2	COL9A3	20	61467646	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	3701090	61467646	1557874	446	16476	469	2									
COL9A3	1299	genome.wustl.edu	37	chr20	61467647	61467647	+	Missense_Mutation	SNP	C	C	T													ctctgggcctgcagggcgtcCcgggtgttcctggcatcacg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr20:61467647C>T	ENST00000343916.3	+	28	1513	c.1510C>T	c.(1510-1512)Ccg>Tcg	p.P504S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	504	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	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)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCAGGGCGTCCCGGGTGTTCC	0.657																																																	0								ENSG00000092758						33	41	38					20																	61467647		2200	4300	6500	COL9A3	SO:0001583	missense	0			-	HGNC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1510C>T	20.37:g.61467647C>T	ENSP00000341640:p.Pro504Ser	Somatic	0	67	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP							pfam_Collagen	p.P504S	ENST00000343916.3	37	c.1510	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556310	0.27827	.	.	ENSG00000092758	ENST00000343916	D	0.96587	-4.06	4.63	4.63	0.57726	.	0.192922	0.46758	D	0.000274	D	0.92655	0.7666	L	0.37630	1.12	0.25112	N	0.990702	B	0.16802	0.019	B	0.19148	0.024	T	0.81951	-0.0698	10	0.19590	T	0.45	.	14.0257	0.64584	0.1515:0.8485:0.0:0.0	.	504	Q14050	CO9A3_HUMAN	S	504	ENSP00000341640:P504S	ENSP00000341640:P504S	P	+	1	0	COL9A3	60938092	0.983000	0.35010	0.003000	0.11579	0.002000	0.02628	3.620000	0.54203	2.117000	0.64856	0.561000	0.74099	CCG	-	pfam_Collagen		0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	protein_coding	OTTHUMT00000080071.2	C	NM_001853	-		61467647	1	no_errors	ENST00000343916	ensembl	human	known	74_37	missense	SNP	0.684	T	T	61467647	C	T	61467647	3	4	203	1	0	0	0	0	1	0	0	0	3711	623	22	2	1620	2	COL9A3	20	61467647	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	61467647	1557873	447	16477	469	2									
N6AMT1	29104	genome.wustl.edu	37	chr21	30248727	30248727	+	Missense_Mutation	SNP	G	G	A													ctaagacttggtgaacttgaGgactgaaagagtttcttggc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr21:30248727G>A	ENST00000303775.5	-	6	650	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F	N6AMT1_ENST00000351429.3_Missense_Mutation_p.L181F	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	209					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.L209I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GTGAACTTGAGGACTGAAAGA	0.368																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000156239						190	164	173					21																	30248727		2203	4300	6503	N6AMT1	SO:0001583	missense	0			-	HGNC	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.625C>T	21.37:g.30248727G>A	ENSP00000303584:p.Leu209Phe	Somatic	0	58	0		0.41568620468393	12	33.33	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q96F73	Missense_Mutation	SNP							pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_PrmC_related	p.L209F	ENST00000303775.5	37	c.625	CCDS33526.1	21	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828184	0.71143	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.28454	2.29;1.61	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	T	0.50120	0.1597	M	0.85373	2.75	0.58432	D	0.999991	D;D	0.57899	0.981;0.969	P;P	0.52758	0.664;0.708	T	0.57636	-0.7777	10	0.59425	D	0.04	-18.3497	13.507	0.61489	0.0:0.0:1.0:0.0	.	181;209	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	F	209;181	ENSP00000303584:L209F;ENSP00000286764:L181F	ENSP00000303584:L209F	L	-	1	0	N6AMT1	29170598	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.868000	0.56055	2.564000	0.86499	0.467000	0.42956	CTC	-	tigrfam_PrmC_related		0.368	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	protein_coding	OTTHUMT00000171738.1	G	NM_013240	-		30248727	-1	no_errors	ENST00000303775	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30248727	G	A	30248727	3	1	203	1	0	0	0	0	1	0	0	0	10116	1000	35	2	23	2	N6AMT1	21	30248727	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		30248727	17881168	448	16478	470	2									
N6AMT1	29104	genome.wustl.edu	37	chr21	30248728	30248728	+	Silent	SNP	G	G	A													taagacttggtgaacttgagGactgaaagagtttcttggcc							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr21:30248728G>A	ENST00000303775.5	-	6	649	c.624C>T	c.(622-624)gtC>gtT	p.V208V	N6AMT1_ENST00000351429.3_Silent_p.V180V	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	208					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGAACTTGAGGACTGAAAGAG	0.368																																																	0								ENSG00000156239						192	166	175					21																	30248728		2203	4300	6503	N6AMT1	SO:0001819	synonymous_variant	0			-	HGNC	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.624C>T	21.37:g.30248728G>A		Somatic	0	59	0		0.41568620468393	12	33.33	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q96F73	Silent	SNP							pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_PrmC_related	p.V208	ENST00000303775.5	37	c.624	CCDS33526.1	21																																																																																			-	tigrfam_PrmC_related		0.368	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	protein_coding	OTTHUMT00000171738.1	G	NM_013240	-		30248728	-1	no_errors	ENST00000303775	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30248728	G	A	30248728	2	1	203	1	0	0	0	0	0	0	0	1	10116	1161	41	2		2	N6AMT1	21	30248728	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	30248728	17881167	449	16479	470	2									
KRTAP24-1	643803	genome.wustl.edu	37	chr21	31654816	31654816	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcagttggaaccgttgcgGagggtttggcaggctttgga	17	6	0	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr21:31654816G>A	ENST00000340345.4	-	1	460	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	145						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AACCGTTGCGGAGGGTTTGGC	0.498																																																	0								ENSG00000188694						119	122	121					21																	31654816		1984	4170	6154	KRTAP24-1	SO:0001819	synonymous_variant	0			-	HGNC	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.435C>T	21.37:g.31654816G>A		Somatic	0	82	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.06	Q1XDX0	Silent	SNP							pfam_KRTAP_PMG	p.L145	ENST00000340345.4	37	c.435	CCDS42915.1	21																																																																																			-	pfam_KRTAP_PMG		0.498	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	protein_coding	OTTHUMT00000246806.2	G	NM_001085455	-		31654816	-1	no_errors	ENST00000340345	ensembl	human	known	74_37	silent	SNP	0.000	A	A	31654816	G	A	31654816	2	1	203	1	0	0	0	0	0	0	0	1	8544	1161	41	2		2	KRTAP24-1	21	31654816	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1406088	31654816	16475079	450	16480											
GCFC1	94104	genome.wustl.edu	37	chr21	34131506	34131506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctttcaatagccctggtaGagtccactcggctttgcaga	9	11	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr21:34131506G>A	ENST00000331923.4	-	7	1457	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.S423F	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	423	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCCCTGGTAGAGTCCACTCG	0.418																																																	0								ENSG00000159086						135	133	134					21																	34131506		2203	4300	6503	PAXBP1	SO:0001583	missense	0			-	HGNC	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1268C>T	21.37:g.34131506G>A	ENSP00000328992:p.Ser423Phe	Somatic	0	56	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP							pfam_GCFC_dom	p.S423F	ENST00000331923.4	37	c.1268	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461131	0.84317	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.37584	1.61;1.19	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	T	0.64262	-0.6449	10	0.56958	D	0.05	-15.1574	19.7959	0.96481	0.0:0.0:1.0:0.0	.	423;423	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	F	423	ENSP00000328992:S423F;ENSP00000290178:S423F	ENSP00000290178:S423F	S	-	2	0	GCFC1	33053377	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	9.349000	0.97066	2.767000	0.95098	0.591000	0.81541	TCT	-	NULL		0.418	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	protein_coding	OTTHUMT00000139563.1	G	NM_013329	-		34131506	-1	no_errors	ENST00000331923	ensembl	human	known	74_37	missense	SNP	1.000	A	A	34131506	G	A	34131506	3	1	203	1	0	0	0	0	1	0	0	0	6291	942	33	2	1651	2	GCFC1	21	34131506	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2476690	34131506	13998389	451	16481											
PSMG1	8624	genome.wustl.edu	37	chr21	40552220	40552220	+	Silent	SNP	G	G	A													gtcccacctaccgagggattGgattttagatgataaaacac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr21:40552220G>A	ENST00000331573.3	-	3	849	c.384C>T	c.(382-384)tcC>tcT	p.S128S	PSMG1_ENST00000380900.2_Silent_p.S128S	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	128					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CCGAGGGATTGGATTTTAGAT	0.368																																																	0								ENSG00000183527						81	75	77					21																	40552220		2203	4300	6503	PSMG1	SO:0001819	synonymous_variant	0			-	HGNC	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.384C>T	21.37:g.40552220G>A		Somatic	0	80	0		0.41568620468393	33	23.26	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Silent	SNP							pirsf_Proteasome_assmbl_chp_1	p.S128	ENST00000331573.3	37	c.384	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	7.825	0.718541	0.15372	.	.	ENSG00000183527	ENST00000440607	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.8084	7.2123	0.25941	0.0752:0.0923:0.2058:0.6267	.	.	.	.	X	49	.	.	Q	-	1	0	PSMG1	39474090	0.013000	0.17824	0.000000	0.03702	0.790000	0.44656	-1.856000	0.01662	-2.235000	0.00714	0.557000	0.71058	CAA	-	pirsf_Proteasome_assmbl_chp_1		0.368	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	protein_coding	OTTHUMT00000141404.2	G	NM_003720	-		40552220	-1	no_errors	ENST00000331573	ensembl	human	known	74_37	silent	SNP	0.001	A	A	40552220	G	A	40552220	2	1	203	1	0	0	0	0	0	0	0	1	12716	1335	47	2		2	PSMG1	21	40552220	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	6420714	40552220	7577675	452	16482	471	2									
PSMG1	8624	genome.wustl.edu	37	chr21	40552221	40552221	+	Missense_Mutation	SNP	G	G	A													tcccacctaccgagggattgGattttagatgataaaacaca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr21:40552221G>A	ENST00000331573.3	-	3	848	c.383C>T	c.(382-384)tCc>tTc	p.S128F	PSMG1_ENST00000380900.2_Missense_Mutation_p.S128F	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	128					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CGAGGGATTGGATTTTAGATG	0.368																																																	0								ENSG00000183527						81	75	77					21																	40552221		2203	4300	6503	PSMG1	SO:0001583	missense	0			-	HGNC	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.383C>T	21.37:g.40552221G>A	ENSP00000329915:p.Ser128Phe	Somatic	0	82	0		0.41568620468393	33	23.26	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Missense_Mutation	SNP							pirsf_Proteasome_assmbl_chp_1	p.S128F	ENST00000331573.3	37	c.383	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778471	0.49786	.	.	ENSG00000183527	ENST00000331573;ENST00000380900	T;T	0.52295	0.67;0.67	5.7	3.87	0.44632	.	0.563750	0.19642	N	0.109435	T	0.55081	0.1898	M	0.69823	2.125	0.09310	N	0.999993	P;P	0.45212	0.853;0.853	P;P	0.49999	0.628;0.558	T	0.50915	-0.8771	10	0.87932	D	0	-2.8084	8.816	0.34996	0.0804:0.1501:0.7695:0.0	.	128;128	O95456-2;O95456	.;PSMG1_HUMAN	F	128	ENSP00000329915:S128F;ENSP00000370286:S128F	ENSP00000329915:S128F	S	-	2	0	PSMG1	39474091	0.999000	0.42202	0.008000	0.14137	0.788000	0.44548	3.527000	0.53517	0.731000	0.32448	0.557000	0.71058	TCC	-	pirsf_Proteasome_assmbl_chp_1		0.368	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	protein_coding	OTTHUMT00000141404.2	G	NM_003720	-		40552221	-1	no_errors	ENST00000331573	ensembl	human	known	74_37	missense	SNP	0.083	A	A	40552221	G	A	40552221	3	1	203	1	0	0	0	0	1	0	0	0	12716	1174	41	2	503	2	PSMG1	21	40552221	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	40552221	7577674	453	16483	471	2									
TMPRSS6	164656	genome.wustl.edu	37	chr22	37480403	37480403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcctcctcagtgcataGgcatcaaaccagagggccaa	9	13	3	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:37480403G>A	ENST00000346753.3	-	10	1271	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	TMPRSS6_ENST00000406725.1_Silent_p.A376A|TMPRSS6_ENST00000442782.2_Silent_p.A385A|TMPRSS6_ENST00000381792.2_Silent_p.A376A|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Silent_p.A376A	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	385	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCAGTGCATAGGCATCAAACC	0.612																																																	0								ENSG00000187045						107	69	82					22																	37480403		2203	4300	6503	TMPRSS6	SO:0001819	synonymous_variant	0			-	HGNC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1155C>T	22.37:g.37480403G>A		Somatic	0	43	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP							pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.A376	ENST00000346753.3	37	c.1128	CCDS13941.1	22																																																																																			-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom		0.612	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	protein_coding	OTTHUMT00000318822.1	G	NM_153609	-		37480403	-1	no_errors	ENST00000381792	ensembl	human	known	74_37	silent	SNP	1.000	A	A	37480403	G	A	37480403	2	1	203	1	0	0	0	0	0	0	0	1	16258	987	35	2		2	TMPRSS6	22	37480403	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09		37480403	13824163	454	16484											
IL2RB	3560	genome.wustl.edu	37	chr22	37524772	37524772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgggctcaggcaccttgtcCtgctgcaggagcagctgcgt	15	13	1	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:37524772C>A	ENST00000216223.5	-	10	1218	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	340					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCACCTTGTCCTGCTGCAGGA	0.607																																																	0								ENSG00000100385						73	62	66					22																	37524772		2203	4300	6503	IL2RB	SO:0001583	missense	0			-	HGNC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1020G>T	22.37:g.37524772C>A	ENSP00000216223:p.Gln340His	Somatic	0	46	0		0.41568620468393	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B2R765	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q340H	ENST00000216223.5	37	c.1020	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515613	0.44763	.	.	ENSG00000100385	ENST00000216223	T	0.09163	3.01	4.64	2.36	0.29203	.	1.225600	0.05641	N	0.583505	T	0.23727	0.0574	L	0.57536	1.79	0.09310	N	1	D	0.62365	0.991	P	0.60473	0.875	T	0.10917	-1.0609	10	0.46703	T	0.11	-12.6628	5.0629	0.14566	0.0:0.612:0.1761:0.2119	.	340	P14784	IL2RB_HUMAN	H	340	ENSP00000216223:Q340H	ENSP00000216223:Q340H	Q	-	3	2	IL2RB	35854718	0.017000	0.18338	0.960000	0.40013	0.498000	0.33706	0.509000	0.22707	1.060000	0.40578	0.655000	0.94253	CAG	-	NULL		0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	protein_coding	OTTHUMT00000318792.1	C		-		37524772	-1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	SNP	0.005	A	A	37524772	C	A	37524772	3	1	203	1	0	0	0	0	1	0	0	0	7689	680	24	3	639	3	IL2RB	22	37524772	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	44369	37524772	13779794	455	16485											
FAM83F	113828	genome.wustl.edu	37	chr22	40417726	40417726	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaaggatggcaggatggtCtctcacatgcacagagacct	12	10	2	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:40417726C>T	ENST00000333407.6	+	4	1306	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	FAM83F_ENST00000473717.1_Silent_p.V236V	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	404										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GCAGGATGGTCTCTCACATGC	0.657																																																	0								ENSG00000133477						36	29	31					22																	40417726		2203	4300	6503	FAM83F	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1212C>T	22.37:g.40417726C>T		Somatic	0	101	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	Q96FD6	Silent	SNP							pfam_DUF1669	p.V404	ENST00000333407.6	37	c.1212	CCDS14000.2	22																																																																																			-	NULL		0.657	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	protein_coding	OTTHUMT00000319624.3	C	NM_138435	-		40417726	1	no_errors	ENST00000333407	ensembl	human	known	74_37	silent	SNP	0.001	T	T	40417726	C	T	40417726	2	4	203	1	0	0	0	0	0	0	0	1	5640	900	32	2		2	FAM83F	22	40417726	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	2892954	40417726	10886840	456	16486											
WNT7B	7477	genome.wustl.edu	37	chr22	46345806	46345806	+	Nonsense_Mutation	SNP	G	G	A													agaggcgcccttacctactcGgagctcttgcccgaagacgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:46345806G>A	ENST00000339464.4	-	2	666	c.292C>T	c.(292-294)Cga>Tga	p.R98*	WNT7B_ENST00000410058.1_Nonsense_Mutation_p.R98*|WNT7B_ENST00000409496.3_Nonsense_Mutation_p.R102*|WNT7B_ENST00000410089.1_Nonsense_Mutation_p.R82*	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	98					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTACCTACTCGGAGCTCTTGC	0.657																																																	0								ENSG00000188064						30	27	28					22																	46345806		2203	4300	6503	WNT7B	SO:0001587	stop_gained	0			-	HGNC	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.292C>T	22.37:g.46345806G>A	ENSP00000341032:p.Arg98*	Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	26.32	B8A596|Q96Q12	Nonsense_Mutation	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R98*	ENST00000339464.4	37	c.292	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	38	6.966030	0.97967	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	.	.	.	3.81	2.75	0.32379	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	11.5026	0.50446	0.0:0.0:0.8192:0.1808	.	.	.	.	X	98;82;102;98;31	.	ENSP00000341032:R98X	R	-	1	2	WNT7B	44724470	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.655000	0.37345	0.763000	0.33175	0.555000	0.69702	CGA	-	pfam_Wnt,smart_Wnt		0.657	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	protein_coding	OTTHUMT00000336418.1	G	NM_058238	-		46345806	-1	no_errors	ENST00000339464	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	46345806	G	A	46345806	4	1	203	1	0	0	0	0	0	1	0	0	17402	1124	39	1	769	1	WNT7B	22	46345806	Nonsense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	5928080	46345806	4958760	457	16487	472	2									
WNT7B	7477	genome.wustl.edu	37	chr22	46345807	46345807	+	Silent	SNP	G	G	A													gaggcgcccttacctactcgGagctcttgcccgaagacggt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:46345807G>A	ENST00000339464.4	-	2	665	c.291C>T	c.(289-291)ctC>ctT	p.L97L	WNT7B_ENST00000410058.1_Silent_p.L97L|WNT7B_ENST00000409496.3_Silent_p.L101L|WNT7B_ENST00000410089.1_Silent_p.L81L	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	97					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TACCTACTCGGAGCTCTTGCC	0.652																																																	0								ENSG00000188064						30	28	29					22																	46345807		2203	4300	6503	WNT7B	SO:0001819	synonymous_variant	0			-	HGNC	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.291C>T	22.37:g.46345807G>A		Somatic	0	47	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B8A596|Q96Q12	Silent	SNP							pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.L97	ENST00000339464.4	37	c.291	CCDS33667.1	22																																																																																			-	pfam_Wnt,smart_Wnt		0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	protein_coding	OTTHUMT00000336418.1	G	NM_058238	-		46345807	-1	no_errors	ENST00000339464	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46345807	G	A	46345807	2	1	203	1	0	0	0	0	0	0	0	1	17402	1161	41	2		2	WNT7B	22	46345807	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1	46345807	4958759	458	16488	472	2									
ALG12	79087	genome.wustl.edu	37	chr22	50297506	50297506	+	Silent	SNP	T	T	G													tcaggacggccgggggagccTctccagaagcaccagctttg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:50297506T>G	ENST00000330817.6	-	10	1720	c.1447A>C	c.(1447-1449)Agg>Cgg	p.R483R	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	483					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGGGAGCCTCTCCAGAAGC	0.622																																																	0								ENSG00000182858						51	58	56					22																	50297506		2203	4300	6503	ALG12	SO:0001819	synonymous_variant	0			-	HGNC	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1447A>C	22.37:g.50297506T>G		Somatic	0	104	0		0.41568620468393	71	18.39	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	63	23.17	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP							pfam_GPI_mannosylTrfase	p.R483	ENST00000330817.6	37	c.1447	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822241	0.32237	.	.	ENSG00000182858	ENST00000332276	.	.	.	5.41	0.494	0.16884	.	.	.	.	.	T	0.72914	0.3520	.	.	.	0.40763	D	0.983027	.	.	.	.	.	.	T	0.76291	-0.3013	5	0.87932	D	0	-14.8882	14.707	0.69198	0.0:0.0:0.5648:0.4352	.	.	.	.	A	128	.	ENSP00000329560:E128A	E	-	2	0	ALG12	48683510	0.997000	0.39634	0.221000	0.23827	0.361000	0.29550	0.797000	0.26999	-0.185000	0.10550	0.533000	0.62120	GAG	-	NULL		0.622	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	protein_coding	OTTHUMT00000317405.2	T	NM_024105	-		50297506	-1	no_errors	ENST00000330817	ensembl	human	known	74_37	silent	SNP	0.646	G	G	50297506	T	G	50297506	2	3	203	1	0	0	0	0	0	0	0	1	514	1550	54	5		5	ALG12	22	50297506	Silent	SNP	T	TCGA-QQ-A5VD-01A-21D-A32I-09	3951699	50297506	1007060	459	16489	473	2									
ALG12	79087	genome.wustl.edu	37	chr22	50297507	50297507	+	Silent	SNP	C	C	T													caggacggccgggggagcctCtccagaagcaccagctttgt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chr22:50297507C>T	ENST00000330817.6	-	10	1719	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	482					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGGAGCCTCTCCAGAAGCA	0.627																																																	0								ENSG00000182858						51	59	56					22																	50297507		2203	4300	6503	ALG12	SO:0001819	synonymous_variant	0			-	HGNC	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1446G>A	22.37:g.50297507C>T		Somatic	0	105	0		0.41568620468393	72	17.24	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	63	21.25	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP							pfam_GPI_mannosylTrfase	p.E482	ENST00000330817.6	37	c.1446	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603097	0.28534	.	.	ENSG00000182858	ENST00000332276	.	.	.	5.41	-0.383	0.12477	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56914	-0.7900	6	0.87932	D	0	-9.7553	5.9982	0.19505	0.0:0.3912:0.1322:0.4766	.	.	.	.	K	128	.	ENSP00000329560:E128K	E	-	1	0	ALG12	48683511	0.998000	0.40836	0.236000	0.24074	0.375000	0.29983	0.808000	0.27154	0.025000	0.15241	-0.140000	0.14226	GAG	-	NULL		0.627	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	protein_coding	OTTHUMT00000317405.2	C	NM_024105	-		50297507	-1	no_errors	ENST00000330817	ensembl	human	known	74_37	silent	SNP	0.643	T	T	50297507	C	T	50297507	2	4	203	1	0	0	0	0	0	0	0	1	514	912	32	2		2	ALG12	22	50297507	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	50297507	1007059	460	16490	473	2									
DCAF8L1	139425	genome.wustl.edu	37	chrX	27998918	27998918	+	Silent	SNP	C	C	T													cgctgcacaaaggttcttgcCccacaggcctcatatacaaa							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:27998918C>T	ENST00000441525.1	-	1	648	c.534G>A	c.(532-534)ggG>ggA	p.G178G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	178										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGTTCTTGCCCCACAGGCCT	0.572																																																	0								ENSG00000226372						36	32	33					X																	27998918		2202	4300	6502	DCAF8L1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.534G>A	X.37:g.27998918C>T		Somatic	0	28	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67	B3KXX1	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G178	ENST00000441525.1	37	c.534	CCDS35222.1	X																																																																																			-	NULL		0.572	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	protein_coding	OTTHUMT00000056150.2	C	XM_066690	-		27998918	-1	no_errors	ENST00000441525	ensembl	human	known	74_37	silent	SNP	1.000	T	T	27998918	C	T	27998918	2	4	203	1	0	0	0	0	0	0	0	1	4279	610	22	2		2	DCAF8L1	23	27998918	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09		27998918	127271642	461	16491	474	2									
DCAF8L1	139425	genome.wustl.edu	37	chrX	27998919	27998919	+	Missense_Mutation	SNP	C	C	T													gctgcacaaaggttcttgccCcacaggcctcatatacaaag							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:27998919C>T	ENST00000441525.1	-	1	647	c.533G>A	c.(532-534)gGg>gAg	p.G178E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	178										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGTTCTTGCCCCACAGGCCTC	0.567																																																	0								ENSG00000226372						36	32	33					X																	27998919		2202	4300	6502	DCAF8L1	SO:0001583	missense	0			-	HGNC		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.533G>A	X.37:g.27998919C>T	ENSP00000405222:p.Gly178Glu	Somatic	0	28	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	5	66.67	B3KXX1	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G178E	ENST00000441525.1	37	c.533	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425960	0.62733	.	.	ENSG00000226372	ENST00000441525	T	0.69175	-0.38	0.842	0.842	0.18927	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.68317	2.08	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.74121	-0.3767	10	0.87932	D	0	-15.0133	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	178	A6NGE4	DC8L1_HUMAN	E	178	ENSP00000405222:G178E	ENSP00000405222:G178E	G	-	2	0	DCAF8L1	27908840	1.000000	0.71417	0.374000	0.26016	0.418000	0.31294	4.465000	0.60141	0.691000	0.31592	0.284000	0.19432	GGG	-	NULL		0.567	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	protein_coding	OTTHUMT00000056150.2	C	XM_066690	-		27998919	-1	no_errors	ENST00000441525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27998919	C	T	27998919	3	4	203	1	0	0	0	0	1	0	0	0	4279	623	22	2	1273	2	DCAF8L1	23	27998919	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	27998919	127271641	462	16492	474	2									
PIM2	11040	genome.wustl.edu	37	chrX	48771445	48771445	+	Missense_Mutation	SNP	C	C	T													aggccaaaggggcagggcctCctttggaggggttgaggggt							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:48771445C>T	ENST00000376509.4	-	6	1088	c.899G>A	c.(898-900)gGa>gAa	p.G300E	SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000452555.2_5'Flank|SLC35A2_ENST00000376512.1_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|SLC35A2_ENST00000376521.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	300					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GGCAGGGCCTCCTTTGGAGGG	0.627																																																	0								ENSG00000102096						24	20	21					X																	48771445		2155	4222	6377	PIM2	SO:0001583	missense	0			-	HGNC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.899G>A	X.37:g.48771445C>T	ENSP00000365692:p.Gly300Glu	Somatic	0	93	0		0.41568620468393	15	31.82	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	25	57.63	A8K4G6|Q99739	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G300E	ENST00000376509.4	37	c.899	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	2.357	-0.347389	0.05208	.	.	ENSG00000102096	ENST00000376509	T	0.67345	-0.26	4.86	4.86	0.63082	.	0.611497	0.16108	N	0.229235	T	0.39436	0.1078	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.15870	0.014	T	0.05954	-1.0854	10	0.02654	T	1	.	13.9013	0.63806	0.0:1.0:0.0:0.0	.	300	Q9P1W9	PIM2_HUMAN	E	300	ENSP00000365692:G300E	ENSP00000365692:G300E	G	-	2	0	PIM2	48656389	0.811000	0.29063	0.052000	0.19188	0.022000	0.10575	0.644000	0.24766	2.250000	0.74265	0.600000	0.82982	GGA	-	NULL		0.627	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	protein_coding	OTTHUMT00000060805.1	C		-		48771445	-1	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	SNP	0.074	T	T	48771445	C	T	48771445	3	4	203	1	0	0	0	0	1	0	0	0	11930	855	30	2	40	2	PIM2	23	48771445	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	20772526	48771445	106499115	463	16493	475	2									
PIM2	11040	genome.wustl.edu	37	chrX	48771446	48771446	+	Missense_Mutation	SNP	C	C	T													ggccaaaggggcagggcctcCtttggaggggttgaggggta							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:48771446C>T	ENST00000376509.4	-	6	1087	c.898G>A	c.(898-900)Gga>Aga	p.G300R	SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000452555.2_5'Flank|SLC35A2_ENST00000376512.1_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|SLC35A2_ENST00000376521.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	300					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GCAGGGCCTCCTTTGGAGGGG	0.627																																																	0								ENSG00000102096						24	20	21					X																	48771446		2153	4228	6381	PIM2	SO:0001583	missense	0			-	HGNC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.898G>A	X.37:g.48771446C>T	ENSP00000365692:p.Gly300Arg	Somatic	0	93	0		0.41568620468393	15	31.82	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	24	57.89	A8K4G6|Q99739	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G300R	ENST00000376509.4	37	c.898	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	2.021	-0.424831	0.04734	.	.	ENSG00000102096	ENST00000376509	T	0.67865	-0.29	4.86	2.98	0.34508	.	0.611497	0.16108	N	0.229235	T	0.43809	0.1264	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19844	-1.0293	10	0.14656	T	0.56	.	8.3915	0.32531	0.1728:0.6631:0.164:0.0	.	300	Q9P1W9	PIM2_HUMAN	R	300	ENSP00000365692:G300R	ENSP00000365692:G300R	G	-	1	0	PIM2	48656390	0.940000	0.31905	0.051000	0.19133	0.018000	0.09664	1.367000	0.34204	1.027000	0.39758	-0.237000	0.12165	GGA	-	NULL		0.627	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	protein_coding	OTTHUMT00000060805.1	C		-		48771446	-1	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	SNP	0.066	T	T	48771446	C	T	48771446	3	4	203	1	0	0	0	0	1	0	0	0	11930	690	24	2	41	2	PIM2	23	48771446	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	48771446	106499114	464	16494	475	2									
FAM120C	54954	genome.wustl.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133																0								ENSG00000184083																																			FAM120C	SO:0001652	inframe_insertion	0				HGNC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup	Somatic					0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RMT7	In_Frame_Ins	INS							NULL	p.112in_frame_insPP	ENST00000375180.2	37	c.330_329	CCDS14356.1	X																																																																																			-	NULL		0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	-	NM_017848			54209303	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	in_frame_ins	INS	0.999:0.998	GGCGGC	GGCGGC	54209303	-	GGCGGC	54209302	7	5	203	1	0	1	1	0	0	0	0	0	5420	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-QQ-A5VD-01A-21D-A32I-09	5437856	54209302	101061258	465	16495											
ZDHHC15	158866	genome.wustl.edu	37	chrX	74742745	74742745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcagagttcaaagacgtAggcatagtaggaccagagca	13	8	1	3			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:74742745A>G	ENST00000373367.3	-	1	345	c.115T>C	c.(115-117)Tac>Cac	p.Y39H	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.Y39H|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.Y39H|ZDHHC15_ENST00000482827.1_5'UTR	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	39					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TCAAAGACGTAGGCATAGTAG	0.562																																																	0								ENSG00000102383						107	82	91					X																	74742745		2203	4300	6503	ZDHHC15	SO:0001583	missense	0			-	HGNC	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.115T>C	X.37:g.74742745A>G	ENSP00000362465:p.Tyr39His	Somatic	0	68	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.Y39H	ENST00000373367.3	37	c.115	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668477	0.88348	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.77098	0.74;1.04;-1.07	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.972	D;D;P	0.85130	0.997;0.99;0.832	D	0.89107	0.3493	10	0.51188	T	0.08	-15.1548	12.4271	0.55553	1.0:0.0:0.0:0.0	.	39;39;39	Q96MV8-2;B3KVG7;Q96MV8	.;.;ZDH15_HUMAN	H	39	ENSP00000362465:Y39H;ENSP00000445420:Y39H;ENSP00000362459:Y39H	ENSP00000362459:Y39H	Y	-	1	0	ZDHHC15	74659470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.618000	0.83043	1.840000	0.53500	0.430000	0.28490	TAC	-	NULL		0.562	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	protein_coding	OTTHUMT00000057283.1	A	NM_144969	-		74742745	-1	no_errors	ENST00000373367	ensembl	human	known	74_37	missense	SNP	1.000	G	G	74742745	A	G	74742745	3	3	203	1	0	0	0	0	1	0	0	0	17612	420	15	5	1022	5	ZDHHC15	23	74742745	Missense_Mutation	SNP	A	TCGA-QQ-A5VD-01A-21D-A32I-09	20533443	74742745	80527815	466	16496											
DRP2	1821	genome.wustl.edu	37	chrX	100513529	100513529	+	Silent	SNP	C	C	T													cagcgtctgagggagcttctCctgcaggtgaggatggagac							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:100513529C>T	ENST00000395209.3	+	22	3149	c.2622C>T	c.(2620-2622)ctC>ctT	p.L874L	DRP2_ENST00000541709.1_Silent_p.L796L|DRP2_ENST00000402866.1_Silent_p.L874L|DRP2_ENST00000538510.1_Silent_p.L874L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	874					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGGAGCTTCTCCTGCAGGTGA	0.592																																																	0								ENSG00000102385						9	8	8					X																	100513529		2177	4230	6407	DRP2	SO:0001819	synonymous_variant	0			-	HGNC	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2622C>T	X.37:g.100513529C>T		Somatic	0	30	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP							pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.L874	ENST00000395209.3	37	c.2622	CCDS14480.2	X																																																																																			-	pirsf_Dystrophin-related_2		0.592	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	protein_coding	OTTHUMT00000057522.3	C	NM_001939	-		100513529	1	no_errors	ENST00000395209	ensembl	human	known	74_37	silent	SNP	0.999	T	T	100513529	C	T	100513529	2	4	203	1	0	0	0	0	0	0	0	1	4766	842	30	2		2	DRP2	23	100513529	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	25770784	100513529	54757031	467	16497	476	2									
DRP2	1821	genome.wustl.edu	37	chrX	100513530	100513530	+	Silent	SNP	C	C	T													agcgtctgagggagcttctcCtgcaggtgaggatggagaca							TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:100513530C>T	ENST00000395209.3	+	22	3150	c.2623C>T	c.(2623-2625)Ctg>Ttg	p.L875L	DRP2_ENST00000541709.1_Silent_p.L797L|DRP2_ENST00000402866.1_Silent_p.L875L|DRP2_ENST00000538510.1_Silent_p.L875L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	875					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAGCTTCTCCTGCAGGTGAG	0.592																																																	0								ENSG00000102385						9	8	8					X																	100513530		2176	4227	6403	DRP2	SO:0001819	synonymous_variant	0			-	HGNC	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2623C>T	X.37:g.100513530C>T		Somatic	0	29	0		0.41568620468393	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP							pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.L875	ENST00000395209.3	37	c.2623	CCDS14480.2	X																																																																																			-	pirsf_Dystrophin-related_2		0.592	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	protein_coding	OTTHUMT00000057522.3	C	NM_001939	-		100513530	1	no_errors	ENST00000395209	ensembl	human	known	74_37	silent	SNP	1.000	T	T	100513530	C	T	100513530	2	4	203	1	0	0	0	0	0	0	0	1	4766	680	24	2		2	DRP2	23	100513530	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	1	100513530	54757030	468	16498	476	2									
GPR119	139760	genome.wustl.edu	37	chrX	129518774	129518774	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttgaagtcgctgggagtCcgtggggatcgataacctcc	14	10	0	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:129518774C>T	ENST00000276218.2	-	1	737	c.648G>A	c.(646-648)cgG>cgA	p.R216R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	216					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CGCTGGGAGTCCGTGGGGATC	0.532																																																	0								ENSG00000147262						98	79	85					X																	129518774		2203	4300	6503	GPR119	SO:0001819	synonymous_variant	0			-	HGNC	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.648G>A	X.37:g.129518774C>T		Somatic	0	15	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	9	52.63	Q495H7|Q4VBN3	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R216	ENST00000276218.2	37	c.648	CCDS14625.1	X																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.532	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR119	protein_coding	OTTHUMT00000058270.1	C	NM_178471	-		129518774	-1	no_errors	ENST00000276218	ensembl	human	known	74_37	silent	SNP	0.011	T	T	129518774	C	T	129518774	2	4	203	1	0	0	0	0	0	0	0	1	6636	842	30	2		2	GPR119	23	129518774	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	29005244	129518774	25751786	469	16499											
GPC3	2719	genome.wustl.edu	37	chrX	132887634	132887634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccattcacaagttcttcaaGggacagaatgtattctctcc	7	11	4	1			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:132887634G>T	ENST00000370818.3	-	3	1352	c.907C>A	c.(907-909)Ctt>Att	p.L303I	GPC3_ENST00000543339.1_Missense_Mutation_p.L249I|GPC3_ENST00000394299.2_Missense_Mutation_p.L303I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	303					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTTCAAGGGACAGAATG	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0								ENSG00000147257						606	392	465					X																	132887634		2203	4300	6503	GPC3	SO:0001583	missense	0	Familial Cancer Database	SGBS	-	HGNC	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.907C>A	X.37:g.132887634G>T	ENSP00000359854:p.Leu303Ile	Somatic	0	26	0		0.41568620468393	239	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP							pfam_Glypican	p.L303I	ENST00000370818.3	37	c.907	CCDS14638.1	X	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889360	0.52014	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.64085	-0.08;-0.08;-0.08	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	L	0.61218	1.895	0.43693	D	0.996147	D;D;P;D	0.55605	0.972;0.966;0.88;0.972	P;P;P;P	0.60415	0.874;0.872;0.773;0.773	T	0.72581	-0.4250	10	0.54805	T	0.06	.	8.1831	0.31322	0.0828:0.0:0.7602:0.157	.	287;249;303;303	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	I	303;303;249	ENSP00000359854:L303I;ENSP00000377836:L303I;ENSP00000444222:L249I	ENSP00000359854:L303I	L	-	1	0	GPC3	132715300	1.000000	0.71417	0.982000	0.44146	0.935000	0.57460	3.709000	0.54853	2.397000	0.81536	0.594000	0.82650	CTT	-	pfam_Glypican		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	protein_coding	OTTHUMT00000058356.1	G	NM_004484	-		132887634	-1	no_errors	ENST00000394299	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132887634	G	T	132887634	3	4	203	1	0	0	0	0	1	0	0	0	6601	1000	35	3	932	3	GPC3	23	132887634	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	3368860	132887634	22382926	470	16500											
FGF13	2258	genome.wustl.edu	37	chrX	137715093	137715093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggttggggtcccgcttCcagatcgggagaactccgtg	14	11	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:137715093C>T	ENST00000315930.6	-	5	1317	c.656G>A	c.(655-657)gGa>gAa	p.G219E	FGF13_ENST00000370603.3_Missense_Mutation_p.G229E|FGF13_ENST00000441825.2_Missense_Mutation_p.G200E|FGF13_ENST00000541469.1_Missense_Mutation_p.G173E|FGF13_ENST00000305414.4_Missense_Mutation_p.G166E	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	219					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCGCTTCCAGATCGGGA	0.512																																																	0								ENSG00000129682						159	124	136					X																	137715093		2203	4300	6503	FGF13	SO:0001583	missense	0			-	HGNC	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.656G>A	X.37:g.137715093C>T	ENSP00000322390:p.Gly219Glu	Somatic	0	42	0		0.41568620468393	3	80	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP							pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.G229E	ENST00000315930.6	37	c.686	CCDS14665.1	X	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265814	0.59540	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469	T;T;T;T;T	0.78364	-0.96;-1.13;-1.14;-1.17;-1.14	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	N	0.22421	0.69	0.80722	D	1	B;P;P;B	0.38863	0.138;0.65;0.486;0.243	B;B;B;B	0.36922	0.065;0.186;0.236;0.065	T	0.65109	-0.6248	10	0.20519	T	0.43	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	173;229;166;219	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	E	219;166;200;229;173	ENSP00000322390:G219E;ENSP00000303391:G166E;ENSP00000409276:G200E;ENSP00000359635:G229E;ENSP00000437903:G173E	ENSP00000303391:G166E	G	-	2	0	FGF13	137542759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	GGA	-	NULL		0.512	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	protein_coding	OTTHUMT00000058534.2	C	NM_004114	-		137715093	-1	no_errors	ENST00000370603	ensembl	human	known	74_37	missense	SNP	1.000	T	T	137715093	C	T	137715093	3	4	203	1	0	0	0	0	1	0	0	0	5844	855	30	2	85	2	FGF13	23	137715093	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	4827459	137715093	17555467	471	16501											
CDR1	1038	genome.wustl.edu	37	chrX	139866052	139866052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacaatccaagtcttccGgataatttgggtcttcctga	7	12	2	1	rs146276960		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:139866052G>A	ENST00000370532.2	-	1	671	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	160	6 X 6 AA approximate repeats.							p.S160S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAAGTCTTCCGGATAATTTGG	0.443													G|||	1	0.000264901	0	0	3775	,	,		15094	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000184258	G		1,3832		0,1,1630,571	134	140	138		480	-7	0	X	dbSNP_134	138	1,6727		0,1,2427,1872	no	coding-synonymous	CDR1	NM_004065.2		0,2,4057,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		160/263	139866052	2,10559	2202	4300	6502	CDR1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.480C>T	X.37:g.139866052G>A		Somatic	0	55	0		0.41568620468393	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	Q5JXH6	Silent	SNP							NULL	p.S160	ENST00000370532.2	37	c.480	CCDS14670.1	X																																																																																			-	NULL		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	protein_coding	OTTHUMT00000058583.1	G	NM_004065	rs146276960		139866052	-1	no_errors	ENST00000370532	ensembl	human	known	74_37	silent	SNP	0.000	A	A	139866052	G	A	139866052	2	1	203	1	0	0	0	0	0	0	0	1	3173	1103	39	1		1	CDR1	23	139866052	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	2150959	139866052	15404508	472	16502											
SPANXC	64663	genome.wustl.edu	37	chrX	140336558	140336558	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattcacaggggacgctcctCttcaccccgccggcactgga	11	16	3	0			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:140336558C>T	ENST00000358993.2	-	1	71	c.33G>A	c.(31-33)aaG>aaA	p.K11K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GGACGCTCCTCTTCACCCCGC	0.507																																																	0								ENSG00000198573						88	119	108					X																	140336558		2198	4292	6490	SPANXC	SO:0001819	synonymous_variant	0			-	HGNC	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 3"	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.33G>A	X.37:g.140336558C>T		Somatic	0	187	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	70	40.68	Q32WL9|Q5JX88	Silent	SNP							pfam_SPANX_prot	p.K11	ENST00000358993.2	37	c.33	CCDS14673.1	X																																																																																			-	pfam_SPANX_prot		0.507	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	protein_coding	OTTHUMT00000058590.1	C	NM_022661	-		140336558	-1	no_errors	ENST00000358993	ensembl	human	known	74_37	silent	SNP	0.001	T	T	140336558	C	T	140336558	2	4	203	1	0	0	0	0	0	0	0	1	14995	912	32	2		2	SPANXC	23	140336558	Silent	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	470506	140336558	14934002	473	16503											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994128	140994128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgagctcctcctcctcctCcactttattgagtcttttcc	5	15	1	2			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:140994128C>T	ENST00000285879.4	+	4	1224	c.938C>T	c.(937-939)tCc>tTc	p.S313F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	313										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCACTTTATTG	0.483										HNSCC(15;0.026)																																							0								ENSG00000155495						131	125	127					X																	140994128		2197	4270	6467	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.938C>T	X.37:g.140994128C>T	ENSP00000285879:p.Ser313Phe	Somatic	0	122	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	49	37.18	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.S313F	ENST00000285879.4	37	c.938	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	7.593	0.671135	0.14776	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.18657	4.2;2.2	.	.	.	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.37731	D	0.925261	D	0.54964	0.969	P	0.49361	0.608	T	0.19451	-1.0305	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	313	O60732	MAGC1_HUMAN	F	313;115;114	ENSP00000285879:S313F;ENSP00000359542:S115F	ENSP00000285879:S313F	S	+	2	0	MAGEC1	140821794	0.002000	0.14202	0.027000	0.17364	0.027000	0.11550	0.428000	0.21395	0.148000	0.19059	0.150000	0.16122	TCC	-	NULL		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140994128	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.259	T	T	140994128	C	T	140994128	3	4	203	1	0	0	0	0	1	0	0	0	9182	855	30	2	944	2	MAGEC1	23	140994128	Missense_Mutation	SNP	C	TCGA-QQ-A5VD-01A-21D-A32I-09	657570	140994128	14276432	474	16504											
MAGEC1	9947	genome.wustl.edu	37	chrX	140995998	140995998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaggcagagatgctgacGaatgtcatcagcaggtacac	11	9	2	2	rs368536858		TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468										HNSCC(15;0.026)																																							0								ENSG00000155495	G		0,3835		0,0,0,1632,571	156	145	149		2808	-0.2	0	X		149	1,6727		0,0,1,2428,1871	no	coding-synonymous	MAGEC1	NM_005462.4		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		936/1143	140995998	1,10562	2203	4300	6503	MAGEC1	SO:0001819	synonymous_variant	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2808G>A	X.37:g.140995998G>A		Somatic	0	17	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	A0PK03|O75451|Q8TCV4	Silent	SNP							pfam_MAGE,pfscan_MAGE	p.T936	ENST00000285879.4	37	c.2808	CCDS35417.1	X																																																																																			-	pfam_MAGE,pfscan_MAGE		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	G	NM_005462	-		140995998	1	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	SNP	0.001	A	A	140995998	G	A	140995998	2	1	203	1	0	0	0	0	0	0	0	1	9182	1045	37	1		1	MAGEC1	23	140995998	Silent	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	1870	140995998	14274562	475	16505											
AFF2	2334	genome.wustl.edu	37	chrX	148035201	148035201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagagcagctctgagtcgGattcagacactgaaagtagc	13	9	2	4			TCGA-QQ-A5VD-01A-21D-A32I-09	TCGA-QQ-A5VD-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c9fa8fc-5b5a-438e-882c-ff14c5a3405a	e9ecae33-6999-4f53-a303-69e56ddb9c3e	g.chrX:148035201G>A	ENST00000370460.2	+	10	1968	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	AFF2_ENST00000286437.5_Missense_Mutation_p.D138N|AFF2_ENST00000342251.3_Missense_Mutation_p.D464N|AFF2_ENST00000370457.5_Missense_Mutation_p.D464N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	497					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.D497Y(2)|p.D138Y(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)					CTCTGAGTCGGATTCAGACAC	0.587																																																	3	Substitution - Missense(3)	lung(3)						ENSG00000155966						128	120	122					X																	148035201		2203	4300	6503	AFF2	SO:0001583	missense	0			-	HGNC	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.1489G>A	X.37:g.148035201G>A	ENSP00000359489:p.Asp497Asn	Somatic	0	32	0		0.41568620468393	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.D497N	ENST00000370460.2	37	c.1489	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807960	0.50421	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.01	5.01	0.66863	.	0.054538	0.64402	N	0.000002	D	0.87704	0.6244	M	0.74647	2.275	0.58432	D	0.999997	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	0.91635	0.999;0.998;0.998;0.998;0.998;0.999	D	0.87628	0.2514	10	0.42905	T	0.14	.	17.756	0.88449	0.0:0.0:1.0:0.0	.	138;462;464;458;487;497	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	497;464;464;138	ENSP00000359489:D497N;ENSP00000359486:D464N;ENSP00000345459:D464N;ENSP00000286437:D138N	ENSP00000286437:D138N	D	+	1	0	AFF2	147842901	1.000000	0.71417	0.839000	0.33178	0.127000	0.20565	8.782000	0.91809	2.211000	0.71520	0.600000	0.82982	GAT	-	pfam_TF_AF4/FMR2		0.587	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	-		148035201	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	0.999	A	A	148035201	G	A	148035201	3	1	203	1	0	0	0	0	1	0	0	0	357	1174	41	2	1582	2	AFF2	23	148035201	Missense_Mutation	SNP	G	TCGA-QQ-A5VD-01A-21D-A32I-09	7039203	148035201	7235359	476	16506											
POTEE	445582	genome.wustl.edu	37	chr2	132022031	132022031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacacagtgctgtctggCggcaccaccatgtaccctgg	10	15	1	0			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr2:132022031C>T	ENST00000356920.5	+	15	3097	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	1001	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTGTCTGGCGGCACCACCA	0.537																																																	0								ENSG00000188219						1	1	1					2																	132022031		335	417	752	POTEE	SO:0001819	synonymous_variant	0			-	HGNC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.3003C>T	2.37:g.132022031C>T		Somatic	0	19	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	29.41	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.G1001	ENST00000356920.5	37	c.3003	CCDS46414.1	2																																																																																			-	pfam_Actin-related,smart_Actin-related		0.537	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	protein_coding		C	NM_001083538	-		132022031	1	no_errors	ENST00000356920	ensembl	human	known	74_37	silent	SNP	1.000	T	T	132022031	C	T	132022031	2	4	204	1	0	0	0	0	0	0	0	1	12266	755	27	1		1	POTEE	2	132022031	Silent	SNP	C	TCGA-QQ-A8VD-01A-42D-A38Z-09		132022031	111177342	1	16507											
COL4A3	1285	genome.wustl.edu	37	chr2	228104874	228104874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagggggagaagggctttCctggaccccccggttctcct	13	13	1	1			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr2:228104874C>T	ENST00000396578.3	+	3	322	c.160C>T	c.(160-162)Cct>Tct	p.P54S	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	54	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGGGCTTTCCTGGACCCCC	0.502																																																	0								ENSG00000169031						51	53	52					2																	228104874		1889	4125	6014	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.160C>T	2.37:g.228104874C>T	ENSP00000379823:p.Pro54Ser	Somatic	0	35	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P54S	ENST00000396578.3	37	c.160	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412277	0.62511	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97665	-4.48	5.87	5.87	0.94306	.	0.112285	0.41097	D	0.000960	D	0.98099	0.9373	M	0.79614	2.46	0.36485	D	0.86806	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.967;0.982;0.999;0.995	D	0.99271	1.0893	10	0.21014	T	0.42	.	15.7708	0.78167	0.0:1.0:0.0:0.0	.	54;54;54;54	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	S	54	ENSP00000379823:P54S	ENSP00000323334:P54S	P	+	1	0	COL4A3	227813118	0.530000	0.26330	0.447000	0.26932	0.402000	0.30811	1.140000	0.31516	2.792000	0.96026	0.650000	0.86243	CCT	-	pfam_Collagen		0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	C	NM_000091	-		228104874	1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.853	T	T	228104874	C	T	228104874	3	4	204	1	0	0	0	0	1	0	0	0	3693	855	30	2	170	2	COL4A3	2	228104874	Missense_Mutation	SNP	C	TCGA-QQ-A8VD-01A-42D-A38Z-09	96082843	228104874	15094499	2	16508											
AMIGO3	29925	genome.wustl.edu	37	chr3	49755642	49755643	+	3'UTR	INS	-	-	CAGCGGCGG													gcgggctgggtgtttggggcINScagcggcggcagcggcaggc					rs576080161|rs543098573	byFrequency	TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr3:49755642_49755643insCAGCGGCGG	ENST00000480687.1	-	0	4741_4742				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_In_Frame_Ins_p.418_419insCRR|AMIGO3_ENST00000320431.7_In_Frame_Ins_p.418_419insCRR|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGTTTGGGGCcagcggcggca	0.693																																																	0								ENSG00000176020																																			AMIGO3	SO:0001624	3_prime_UTR_variant	0				HGNC	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3543->CCGCCGCTG	3.37:g.49755643_49755651dupCAGCGGCGG		Somatic					0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K6N5|Q9H7U3	In_Frame_Ins	INS							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.419in_frame_insCRR	ENST00000480687.1	37	c.1257_1256	CCDS2803.1	3																																																																																			-	NULL		0.693	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	protein_coding	OTTHUMT00000350291.1	-	NM_013334			49755643	-1	no_errors	ENST00000320431	ensembl	human	known	74_37	in_frame_ins	INS	0.999:0.938	CAGCGGCGG	CAGCGGCGG	49755643	-	CAGCGGCGG	49755642	6	5	204	0	1	1	1	0	0	0	0	0	577	740	26	0		0	AMIGO3	3	49755642	3'UTR	INS	-	TCGA-QQ-A8VD-01A-42D-A38Z-09		49755642	148266788	3	16509											
SLC13A4	26266	genome.wustl.edu	37	chr7	135377097	135377097	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagaaagaatcccagccaggGacaaagccaggctcccgggt	12	12	0	2			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr7:135377097G>C	ENST00000354042.4	-	11	1883	c.1194C>G	c.(1192-1194)gtC>gtG	p.V398V	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	398					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CCCAGCCAGGGACAAAGCCAG	0.438																																																	0								ENSG00000164707						65	75	71					7																	135377097		2203	4300	6503	SLC13A4	SO:0001819	synonymous_variant	0			-	HGNC	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1194C>G	7.37:g.135377097G>C		Somatic	0	82	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	122	13.48	A4D1Q4|Q8N631	Silent	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.V398	ENST00000354042.4	37	c.1194	CCDS5840.1	7																																																																																			-	pfam_Na/sul_symport		0.438	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	protein_coding	OTTHUMT00000340558.1	G	NM_012450	-		135377097	-1	no_errors	ENST00000354042	ensembl	human	known	74_37	silent	SNP	0.997	C	C	135377097	G	C	135377097	2	2	204	1	0	0	0	0	0	0	0	1	14402	1161	41	4		4	SLC13A4	7	135377097	Silent	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09		135377097	23761566	4	16510											
MUC5B	727897	genome.wustl.edu	37	chr11	1265292	1265292	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaccgtgagcaggtgggGaagttcaagatgtgcttcaa	15	6	2	2	rs60084884	byFrequency	TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr11:1265292G>A	ENST00000529681.1	+	31	7240	c.7182G>A	c.(7180-7182)ggG>ggA	p.G2394G	MUC5B_ENST00000447027.1_Silent_p.G2397G|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2394	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)		AGCAGGTGGGGAAGTTCAAGA	0.627													g|||	251	0.0501198	0.0817	0.0403	5008	,	,		19083	0.002		0.0388	False		,,,				2504	0.0757																0								ENSG00000117983	G		88,1378		1,86,646	4	6	5		7182	-1.7	0	11		5	142,4258		6,130,2064	no	coding-synonymous	MUC5B	NM_002458.2		7,216,2710	AA,AG,GG		3.2273,6.0027,3.9209		2394/5763	1265292	230,5636	733	2200	2933	MUC5B	SO:0001819	synonymous_variant	0			-	HGNC	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.7182G>A	11.37:g.1265292G>A		Somatic	0	17	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	14	46.15	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G2397	ENST00000529681.1	37	c.7191	CCDS44515.2	11																																																																																			-	NULL		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1265292	1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	SNP	0.000	A	A	1265292	G	A	1265292	2	1	204	1	0	0	0	0	0	0	0	1	9981	1161	41	2		2	MUC5B	11	1265292	Silent	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09		1265292	133741224	5	16511											
GRIP1	23426	genome.wustl.edu	37	chr12	67072671	67072671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgacaacggcatttaaaaGagacagctatcattcttgct	7	8	2	2			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr12:67072671G>C	ENST00000398016.3	-	1	82	c.14C>G	c.(13-15)tCt>tGt	p.S5C	GRIP1_ENST00000359742.4_Missense_Mutation_p.S5C|GRIP1_ENST00000286445.7_Missense_Mutation_p.S5C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	79					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			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)		GCATTTAAAAGAGACAGCTAT	0.463																																																	0								ENSG00000155974						109	104	106					12																	67072671		1952	4154	6106	GRIP1	SO:0001583	missense	0			-	HGNC	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.14C>G	12.37:g.67072671G>C	ENSP00000381098:p.Ser5Cys	Somatic	0	41	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S5C	ENST00000398016.3	37	c.14	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407165	0.62399	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000545666	T;T;T;T;T	0.34472	1.88;1.85;1.87;1.89;1.36	5.61	5.61	0.85477	.	0.287831	0.34555	N	0.003878	T	0.44726	0.1307	N	0.14661	0.345	0.38248	D	0.941512	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.44590	-0.9318	9	.	.	.	-10.9598	19.6209	0.95654	0.0:0.0:1.0:0.0	.	5;5	F5H4N6;Q9Y3R0-3	.;.	C	5	ENSP00000381098:S5C;ENSP00000352780:S5C;ENSP00000286445:S5C;ENSP00000446047:S5C;ENSP00000439124:S5C	.	S	-	2	0	GRIP1	65358938	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.111000	0.77077	2.643000	0.89663	0.462000	0.41574	TCT	-	NULL		0.463	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	G		-		67072671	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67072671	G	C	67072671	3	2	204	1	0	0	0	0	1	0	0	0	6789	942	33	4	3312	4	GRIP1	12	67072671	Missense_Mutation	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09		67072671	66779224	6	16512											
MLXIP	22877	genome.wustl.edu	37	chr12	122614518	122614518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtattggcacaagcacGgggatggatggaagaccccc	14	10	0	1			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr12:122614518G>T	ENST00000319080.7	+	6	901	c.769G>T	c.(769-771)Ggg>Tgg	p.G257W	MLXIP_ENST00000538698.1_5'Flank					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GCACAAGCACGGGGATGGATG	0.542																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0								ENSG00000175727						68	70	69					12																	122614518		2077	4220	6297	MLXIP	SO:0001583	missense	0			-	HGNC	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.769G>T	12.37:g.122614518G>T	ENSP00000312834:p.Gly257Trp	Somatic	0	36	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G257W	ENST00000319080.7	37	c.769		12	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209512	0.39003	.	.	ENSG00000175727	ENST00000319080;ENST00000535430	T;T	0.33438	2.4;1.41	5.19	0.0971	0.14493	.	0.567049	0.19489	N	0.113040	T	0.45776	0.1359	.	.	.	0.40161	D	0.977062	D;D	0.89917	1.0;0.988	D;P	0.83275	0.996;0.708	T	0.32214	-0.9915	9	0.37606	T	0.19	-6.7613	5.5304	0.16980	0.3305:0.2424:0.427:0.0	.	257;257	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	W	257;8	ENSP00000312834:G257W;ENSP00000438206:G8W	ENSP00000312834:G257W	G	+	1	0	MLXIP	121180471	0.936000	0.31750	0.045000	0.18777	0.458000	0.32498	1.197000	0.32211	-0.287000	0.09064	-1.036000	0.02392	GGG	-	NULL		0.542	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	protein_coding	OTTHUMT00000401718.2	G	NM_014938	-		122614518	1	no_errors	ENST00000319080	ensembl	human	known	74_37	missense	SNP	0.007	T	T	122614518	G	T	122614518	3	4	204	1	0	0	0	0	1	0	0	0	9638	1116	39	3	791	3	MLXIP	12	122614518	Missense_Mutation	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09	55541847	122614518	11237377	7	16513											
C14orf115	55237	genome.wustl.edu	37	chr14	74824312	74824312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccctggagctgctcaacCgtgaacctggcctcagctac	10	15	2	2	rs377542755		TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr14:74824312C>T	ENST00000256362.4	+	2	1067	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	276					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGCTCAACCGTGAACCTGG	0.652																																																	0								ENSG00000133980	C	CYS/ARG	0,4406		0,0,2203	44	42	42		826	3.4	0.1	14		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	VRTN	NM_018228.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	276/703	74824312	1,13005	2203	4300	6503	VRTN	SO:0001583	missense	0			-	HGNC	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.826C>T	14.37:g.74824312C>T	ENSP00000256362:p.Arg276Cys	Somatic	0	43	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	Q9NVC7	Missense_Mutation	SNP							pfam_Transposase_8	p.R276C	ENST00000256362.4	37	c.826	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873727	0.33069	0.0	1.16E-4	ENSG00000133980	ENST00000256362	T	0.46819	0.86	5.2	3.39	0.38822	.	0.791785	0.11486	N	0.559193	T	0.42607	0.1210	N	0.14661	0.345	0.45554	D	0.998508	D	0.76494	0.999	P	0.57846	0.828	T	0.33979	-0.9847	10	0.87932	D	0	-6.7824	4.9155	0.13844	0.2107:0.6157:0.0:0.1736	.	276	Q9H8Y1	VRTN_HUMAN	C	276	ENSP00000256362:R276C	ENSP00000256362:R276C	R	+	1	0	VRTN	73894065	1.000000	0.71417	0.050000	0.19076	0.047000	0.14425	5.128000	0.64733	0.780000	0.33566	0.561000	0.74099	CGT	-	pfam_Transposase_8		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	protein_coding	OTTHUMT00000412339.1	C	NM_018228	-		74824312	1	no_errors	ENST00000256362	ensembl	human	known	74_37	missense	SNP	0.846	T	T	74824312	C	T	74824312	3	4	204	1	0	0	0	0	1	0	0	0	1742	652	23	1	828	1	C14orf115	14	74824312	Missense_Mutation	SNP	C	TCGA-QQ-A8VD-01A-42D-A38Z-09		74824312	32525228	8	16514											
APBA2	321	genome.wustl.edu	37	chr15	29393906	29393906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccccggtcagcctctcaGgactgcatcgagaccacgcc	10	17	2	1			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr15:29393906G>T	ENST00000558402.1	+	11	2042	c.1443G>T	c.(1441-1443)caG>caT	p.Q481H	APBA2_ENST00000558330.1_Missense_Mutation_p.Q469H|APBA2_ENST00000561069.1_Missense_Mutation_p.Q481H|APBA2_ENST00000558259.1_Missense_Mutation_p.Q481H|APBA2_ENST00000411764.1_Missense_Mutation_p.Q469H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	481	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)		CAGCCTCTCAGGACTGCATCG	0.577																																																	0								ENSG00000034053						86	62	71					15																	29393906		2203	4300	6503	APBA2	SO:0001583	missense	0			-	HGNC	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.1443G>T	15.37:g.29393906G>T	ENSP00000453293:p.Gln481His	Somatic	0	26	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP							pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.Q481H	ENST00000558402.1	37	c.1443	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519651	0.64634	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.55760	0.5	4.47	-0.63	0.11530	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.133176	0.50627	D	0.000118	T	0.62429	0.2427	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	D;D;D;D	0.91635	0.972;0.986;0.999;0.979	T	0.62267	-0.6890	10	0.87932	D	0	.	10.3879	0.44152	0.4494:0.0:0.5506:0.0	.	469;173;469;481	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	H	469;481;173	ENSP00000409312:Q469H	ENSP00000219865:Q481H	Q	+	3	2	APBA2	27181198	1.000000	0.71417	0.971000	0.41717	0.976000	0.68499	0.729000	0.26028	0.002000	0.14630	-0.150000	0.13652	CAG	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.577	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	protein_coding	OTTHUMT00000251362.3	G	NM_005503	-		29393906	1	no_errors	ENST00000558259	ensembl	human	known	74_37	missense	SNP	0.998	T	T	29393906	G	T	29393906	3	4	204	1	0	0	0	0	1	0	0	0	757	991	35	3	1469	3	APBA2	15	29393906	Missense_Mutation	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09		29393906	73137486	9	16515											
PHF23	79142	genome.wustl.edu	37	chr17	7140765	7140765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgcagaatttgttgaaaTcctcaattgttctccgccgt	7	10	2	2			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr17:7140765T>C	ENST00000320316.3	-	3	324	c.98A>G	c.(97-99)gAt>gGt	p.D33G	PHF23_ENST00000454255.2_Missense_Mutation_p.D29G|PHF23_ENST00000571362.1_Missense_Mutation_p.D33G|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	33							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TTTGTTGAAATCCTCAATTGT	0.453																																																	0								ENSG00000040633						135	140	139					17																	7140765		1898	4139	6037	PHF23	SO:0001583	missense	0			-	HGNC	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.98A>G	17.37:g.7140765T>C	ENSP00000322579:p.Asp33Gly	Somatic	0	78	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	85	8.60	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.D33G	ENST00000320316.3	37	c.98	CCDS42250.1	17	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803065	0.90623	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.60424	0.19;0.23	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	L	0.52905	1.665	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.73541	-0.3950	10	0.87932	D	0	-9.1676	12.7759	0.57448	0.0:0.0:0.0:1.0	.	33;33	B4DLK6;Q9BUL5	.;PHF23_HUMAN	G	33;29;33	ENSP00000322579:D33G;ENSP00000414607:D29G	ENSP00000043410:D33G	D	-	2	0	PHF23	7081489	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.358000	0.79466	1.898000	0.54952	0.455000	0.32223	GAT	-	NULL		0.453	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	protein_coding	OTTHUMT00000440047.1	T	NM_024297	-		7140765	-1	no_errors	ENST00000320316	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7140765	T	C	7140765	3	2	204	1	0	0	0	0	1	0	0	0	11837	1435	50	5	1125	5	PHF23	17	7140765	Missense_Mutation	SNP	T	TCGA-QQ-A8VD-01A-42D-A38Z-09		7140765	74054445	10	16516											
LRRC48	83450	genome.wustl.edu	37	chr17	17896105	17896105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctccggcggttcaagtgCctgcggacgctcagcctctc	11	16	3	0			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr17:17896105C>T	ENST00000399187.1	+	6	689	c.471C>T	c.(469-471)tgC>tgT	p.C157C	LRRC48_ENST00000411504.2_Silent_p.C157C|LRRC48_ENST00000313838.8_Silent_p.C157C|LRRC48_ENST00000584166.1_Silent_p.C157C|LRRC48_ENST00000399182.1_Silent_p.C157C	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	157						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGTTCAAGTGCCTGCGGACGC	0.532																																																	0								ENSG00000171962						58	59	59					17																	17896105		2036	4172	6208	LRRC48	SO:0001819	synonymous_variant	0			-	HGNC	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.471C>T	17.37:g.17896105C>T		Somatic	0	46	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP							NULL	p.C157	ENST00000399187.1	37	c.471	CCDS45622.1	17																																																																																			-	NULL		0.532	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	protein_coding	OTTHUMT00000131945.3	C	NM_031294	-		17896105	1	no_errors	ENST00000313838	ensembl	human	known	74_37	silent	SNP	0.739	T	T	17896105	C	T	17896105	2	4	204	1	0	0	0	0	0	0	0	1	9007	747	26	2		2	LRRC48	17	17896105	Silent	SNP	C	TCGA-QQ-A8VD-01A-42D-A38Z-09	10755340	17896105	63299105	11	16517											
ZNF28	7576	genome.wustl.edu	37	chr19	53303182	53303182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgaaggtcttgccacacTcattacacttgtaaggtttc	8	10	2	1	rs142391659		TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr19:53303182T>C	ENST00000457749.2	-	4	2035	c.1916A>G	c.(1915-1917)gAg>gGg	p.E639G	ZNF28_ENST00000438150.2_Missense_Mutation_p.E586G|ZNF28_ENST00000360272.4_Missense_Mutation_p.E586G|ZNF28_ENST00000414252.2_Missense_Mutation_p.E586G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	639					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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CTTGCCACACTCATTACACTT	0.428																																																	0								ENSG00000198538						193	181	185					19																	53303182		2203	4300	6503	ZNF28	SO:0001583	missense	0			-	HGNC	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1916A>G	19.37:g.53303182T>C	ENSP00000397693:p.Glu639Gly	Somatic	0	48	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E639G	ENST00000457749.2	37	c.1916	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465403	0.26335	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	1.81	0.634	0.17718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	L	0.47716	1.5	0.09310	N	1	D	0.60575	0.988	P	0.55615	0.78	T	0.22695	-1.0209	9	0.72032	D	0.01	.	5.8153	0.18490	0.2376:0.0:0.0:0.7624	.	639	P17035	ZNF28_HUMAN	G	586;639;586;586	ENSP00000412143:E586G;ENSP00000397693:E639G;ENSP00000353410:E586G;ENSP00000444965:E586G	ENSP00000353410:E586G	E	-	2	0	ZNF28	57994994	0.000000	0.05858	0.024000	0.17045	0.568000	0.35870	-0.093000	0.11111	-0.035000	0.13691	0.248000	0.18094	GAG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	protein_coding	OTTHUMT00000336038.2	T	NM_006969	rs142391659		53303182	-1	no_errors	ENST00000457749	ensembl	human	known	74_37	missense	SNP	0.006	C	C	53303182	T	C	53303182	3	2	204	1	0	0	0	0	1	0	0	0	17820	1551	54	5	244	5	ZNF28	19	53303182	Missense_Mutation	SNP	T	TCGA-QQ-A8VD-01A-42D-A38Z-09		53303182	5825801	12	16518											
CHD6	84181	genome.wustl.edu	37	chr20	40102151	40102151	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatcaattcgctcataGgtgtatctgaggggacccaa	10	12	3	1			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr20:40102151G>T	ENST00000373233.3	-	17	2652	c.2475C>A	c.(2473-2475)acC>acA	p.T825T	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	825	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCGCTCATAGGTGTATCTGA	0.512																																																	0								ENSG00000124177						71	64	66					20																	40102151		2203	4300	6503	CHD6	SO:0001819	synonymous_variant	0			-	HGNC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2475C>A	20.37:g.40102151G>T		Somatic	0	34	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP							pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T825	ENST00000373233.3	37	c.2475	CCDS13317.1	20																																																																																			-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.512	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	G		-		40102151	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	SNP	1.000	T	T	40102151	G	T	40102151	2	4	204	1	0	0	0	0	0	0	0	1	3331	987	35	3		3	CHD6	20	40102151	Silent	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09		40102151	22923369	13	16519											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47626792	47626792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccatccgggacatggCgatccgctgcattgcccaga	10	16	0	1			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chr20:47626792C>T	ENST00000371917.4	+	27	3608	c.3608C>T	c.(3607-3609)gCg>gTg	p.A1203V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1203					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)	p.A1203V(1)		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)			CGGGACATGGCGATCCGCTGC	0.537																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												1	Substitution - Missense(1)	endometrium(1)						ENSG00000124198						123	111	115					20																	47626792		2203	4300	6503	ARFGEF2	SO:0001583	missense	0			-	HGNC	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.3608C>T	20.37:g.47626792C>T	ENSP00000360985:p.Ala1203Val	Somatic	0	30	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q5TFT9|Q9NTS1	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.A1203V	ENST00000371917.4	37	c.3608	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976386	0.18736	.	.	ENSG00000124198	ENST00000371917	T	0.74632	-0.86	5.33	4.23	0.50019	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.059297	0.64402	N	0.000003	T	0.21801	0.0525	N	0.00006	-3.2	0.28184	N	0.928024	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.02654	T	1	.	11.2531	0.49037	0.0:0.0717:0.0:0.9283	.	1203	Q9Y6D5	BIG2_HUMAN	V	1203	ENSP00000360985:A1203V	ENSP00000360985:A1203V	A	+	2	0	ARFGEF2	47060199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.256000	0.72473	0.979000	0.38497	-0.238000	0.12139	GCG	-	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold		0.537	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	protein_coding	OTTHUMT00000079627.1	C	NM_006420	-		47626792	1	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47626792	C	T	47626792	3	4	204	1	0	0	0	0	1	0	0	0	853	768	27	1	3714	1	ARFGEF2	20	47626792	Missense_Mutation	SNP	C	TCGA-QQ-A8VD-01A-42D-A38Z-09	7524641	47626792	15398728	14	16520											
PLXNB3	5365	genome.wustl.edu	37	chrX	153033837	153033837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctctccaggcagatgGgcacatgatagccttcctgg	13	12	1	2			TCGA-QQ-A8VD-01A-42D-A38Z-09	TCGA-QQ-A8VD-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076d23f5-8017-4f0b-b9a1-462386d9e1ed	34a49c5e-6a61-43d0-82b6-2b597c3cbab8	g.chrX:153033837G>T	ENST00000361971.5	+	4	1334	c.1220G>T	c.(1219-1221)gGg>gTg	p.G407V	PLXNB3_ENST00000538282.1_Missense_Mutation_p.G60V|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.G60V|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.G430V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	407	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAGATGGGCACATGATA	0.697																																																	0								ENSG00000198753						39	37	38					X																	153033837		2202	4297	6499	PLXNB3	SO:0001583	missense	0			-	HGNC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1220G>T	X.37:g.153033837G>T	ENSP00000355378:p.Gly407Val	Somatic	0	17	0		0.512518232618712				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G430V	ENST00000361971.5	37	c.1289	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030184	0.54790	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.11495	2.77;2.77;3.46;3.46	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.283230	0.32987	N	0.005408	T	0.34366	0.0895	M	0.83118	2.625	0.58432	D	0.999992	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.973;0.997;0.984;0.991	T	0.12091	-1.0561	10	0.59425	D	0.04	.	11.9485	0.52942	0.0:0.1716:0.8284:0.0	.	60;89;430;407	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	V	430;407;60;60	ENSP00000442736:G430V;ENSP00000355378:G407V;ENSP00000445569:G60V;ENSP00000441919:G60V	ENSP00000355378:G407V	G	+	2	0	PLXNB3	152687031	1.000000	0.71417	0.849000	0.33467	0.471000	0.32888	3.242000	0.51384	2.113000	0.64589	0.513000	0.50165	GGG	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	protein_coding	OTTHUMT00000061063.1	G		-		153033837	1	no_errors	ENST00000538966	ensembl	human	known	74_37	missense	SNP	0.996	T	T	153033837	G	T	153033837	3	4	204	1	0	0	0	0	1	0	0	0	12127	1232	43	3	1348	3	PLXNB3	23	153033837	Missense_Mutation	SNP	G	TCGA-QQ-A8VD-01A-42D-A38Z-09		153033837	2236723	15	16521											
TNFRSF8	943	genome.wustl.edu	37	chr1	12183373	12183373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaccacctttgaggcgCcacccctggggacccagccg	12	17	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:12183373C>T	ENST00000263932.2	+	9	1201	c.979C>T	c.(979-981)Cca>Tca	p.P327S	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P216S|TNFRSF8_ENST00000413146.2_5'Flank	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	327					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTTTGAGGCGCCACCCCTGGG	0.617																																																	0								ENSG00000120949						32	33	33					1																	12183373		2203	4300	6503	TNFRSF8	SO:0001583	missense	0			-	HGNC	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.979C>T	1.37:g.12183373C>T	ENSP00000263932:p.Pro327Ser	Somatic	1	161	0.61		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	160	11.60	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP							pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.P327S	ENST00000263932.2	37	c.979	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532268	0.45073	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.27104	1.69;1.69	3.0	3.0	0.34707	.	61.967200	0.00166	N	0.000000	T	0.39886	0.1095	L	0.47190	1.495	0.09310	N	1	D;P	0.76494	0.999;0.82	P;B	0.59761	0.863;0.427	T	0.35425	-0.9789	10	0.14252	T	0.57	-1.6098	9.7261	0.40333	0.0:1.0:0.0:0.0	.	216;327	D3YTD8;P28908	.;TNR8_HUMAN	S	327;216	ENSP00000263932:P327S;ENSP00000390650:P216S	ENSP00000263932:P327S	P	+	1	0	TNFRSF8	12105960	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.004000	0.29822	2.009000	0.58944	0.561000	0.74099	CCA	-	NULL		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	protein_coding	OTTHUMT00000005130.1	C		-		12183373	1	no_errors	ENST00000263932	ensembl	human	known	74_37	missense	SNP	0.004	T	T	12183373	C	T	12183373	3	4	205	1	0	0	0	0	1	0	0	0	16306	739	26	2	1013	2	TNFRSF8	1	12183373	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		12183373	237067248	1	16522											
PRAMEF12	390999	genome.wustl.edu	37	chr1	12835790	12835790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggccctgagtaagagacGaacagcagggaactgtccaa	13	9	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:12835790G>A	ENST00000357726.4	+	2	419	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	131					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(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAGAGACGAACAGCAGGG	0.542																																																	0								ENSG00000116726						108	122	118					1																	12835790		2177	4296	6473	PRAMEF12	SO:0001583	missense	0			-	HGNC		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.392G>A	1.37:g.12835790G>A	ENSP00000350358:p.Arg131Gln	Somatic	0	87	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	105	19.08		Missense_Mutation	SNP							NULL	p.R131Q	ENST00000357726.4	37	c.392	CCDS41254.1	1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.499776	0.01001	.	.	ENSG00000116726	ENST00000357726	T	0.12361	2.69	2.8	-5.6	0.02497	.	6.292790	0.00896	N	0.002291	T	0.02230	0.0069	N	0.00317	-1.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.02654	T	1	.	1.0684	0.01616	0.2012:0.1765:0.3636:0.2587	.	131	O95522	PRA12_HUMAN	Q	131	ENSP00000350358:R131Q	ENSP00000350358:R131Q	R	+	2	0	PRAMEF12	12758377	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.925000	0.03992	-1.812000	0.01227	-0.752000	0.03492	CGA	-	NULL		0.542	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	protein_coding	OTTHUMT00000005457.1	G	XM_372760	-		12835790	1	no_errors	ENST00000357726	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12835790	G	A	12835790	3	1	205	1	0	0	0	0	1	0	0	0	12433	1058	37	1	398	1	PRAMEF12	1	12835790	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	652417	12835790	236414831	2	16523											
SPEN	23013	genome.wustl.edu	37	chr1	16260291	16260291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactccatctccagctcttcCcccagacacaaaggcctctg	5	18	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:16260291C>T	ENST00000375759.3	+	11	7760	c.7556C>T	c.(7555-7557)cCc>cTc	p.P2519L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2519	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)		CCAGCTCTTCCCCCAGACACA	0.567																																																	0								ENSG00000065526						151	156	154					1																	16260291		2203	4300	6503	SPEN	SO:0001583	missense	0			-	HGNC		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.7556C>T	1.37:g.16260291C>T	ENSP00000364912:p.Pro2519Leu	Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP							pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2519L	ENST00000375759.3	37	c.7556	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203910	0.58234	.	.	ENSG00000065526	ENST00000375759	T	0.37915	1.17	5.16	5.16	0.70880	.	.	.	.	.	T	0.58133	0.2101	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56792	-0.7920	9	0.45353	T	0.12	-15.021	18.6444	0.91406	0.0:1.0:0.0:0.0	.	2519	Q96T58	MINT_HUMAN	L	2519	ENSP00000364912:P2519L	ENSP00000364912:P2519L	P	+	2	0	SPEN	16132878	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.408000	0.80041	2.418000	0.82041	0.561000	0.74099	CCC	-	NULL		0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	C	NM_015001	-		16260291	1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16260291	C	T	16260291	3	4	205	1	0	0	0	0	1	0	0	0	15045	623	22	2	7598	2	SPEN	1	16260291	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3424501	16260291	232990330	3	16524											
EPHA2	1969	genome.wustl.edu	37	chr1	16456750	16456750	+	Silent	SNP	G	G	A													aagtcagccagggtcttgagGgagtcaggggcacgaatgag							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:16456750G>A	ENST00000358432.5	-	15	2794	c.2640C>T	c.(2638-2640)tcC>tcT	p.S880S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	880	Mediates interaction with ARHGEF16 and ELMO2.				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)	GGGTCTTGAGGGAGTCAGGGG	0.572																																																	0								ENSG00000142627						98	93	95					1																	16456750		2203	4300	6503	EPHA2	SO:0001819	synonymous_variant	0			-	HGNC	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.2640C>T	1.37:g.16456750G>A		Somatic	0	86	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	91	11.65	B5A968|Q8N3Z2	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S880	ENST00000358432.5	37	c.2640	CCDS169.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom		0.572	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	G	NM_004431	-		16456750	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	SNP	1.000	A	A	16456750	G	A	16456750	2	1	205	1	0	0	0	0	0	0	0	1	5169	1219	43	2		2	EPHA2	1	16456750	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	196459	16456750	232793871	4	16525	477	2									
EPHA2	1969	genome.wustl.edu	37	chr1	16456751	16456751	+	Missense_Mutation	SNP	G	G	A													agtcagccagggtcttgaggGagtcaggggcacgaatgagc							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:16456751G>A	ENST00000358432.5	-	15	2793	c.2639C>T	c.(2638-2640)tCc>tTc	p.S880F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	880	Mediates interaction with ARHGEF16 and ELMO2.				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)	GGTCTTGAGGGAGTCAGGGGC	0.572																																																	0								ENSG00000142627						97	93	94					1																	16456751		2203	4300	6503	EPHA2	SO:0001583	missense	0			-	HGNC	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.2639C>T	1.37:g.16456751G>A	ENSP00000351209:p.Ser880Phe	Somatic	0	87	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	91	12.50	B5A968|Q8N3Z2	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S880F	ENST00000358432.5	37	c.2639	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465089	0.84425	.	.	ENSG00000142627	ENST00000358432	T	0.62639	0.01	5.63	5.63	0.86233	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000023	D	0.82435	0.5036	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85126	0.0972	10	0.87932	D	0	.	18.2443	0.89979	0.0:0.0:1.0:0.0	.	880	P29317	EPHA2_HUMAN	F	880	ENSP00000351209:S880F	ENSP00000351209:S880F	S	-	2	0	EPHA2	16329338	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.933000	0.56545	2.670000	0.90874	0.655000	0.94253	TCC	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom		0.572	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	G	NM_004431	-		16456751	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16456751	G	A	16456751	3	1	205	1	0	0	0	0	1	0	0	0	5169	1174	41	2	303	2	EPHA2	1	16456751	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1	16456751	232793870	5	16526	477	2									
PADI2	11240	genome.wustl.edu	37	chr1	17422425	17422425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgggttgttcttctcCaccacaccatcccggtctgc	7	15	4	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:17422425C>T	ENST00000375486.4	-	4	453	c.390G>A	c.(388-390)gtG>gtA	p.V130V	PADI2_ENST00000444885.2_Silent_p.V130V|PADI2_ENST00000375481.1_Silent_p.V130V	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	130					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)			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)	TGTTCTTCTCCACCACACCAT	0.617																																																	0								ENSG00000117115						211	182	192					1																	17422425		2203	4300	6503	PADI2	SO:0001819	synonymous_variant	0			-	HGNC	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.390G>A	1.37:g.17422425C>T		Somatic	0	64	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	Q96DA7|Q9UPN2	Silent	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V130	ENST00000375486.4	37	c.390	CCDS177.1	1																																																																																			-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.617	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	C		-		17422425	-1	no_errors	ENST00000375486	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17422425	C	T	17422425	2	4	205	1	0	0	0	0	0	0	0	1	11380	581	21	2		2	PADI2	1	17422425	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	965674	17422425	231828196	6	16527											
PTPRU	10076	genome.wustl.edu	37	chr1	29611337	29611337	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgcaggggggcttgctgtCctcatccttctcctgggtgc	14	12	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:29611337C>T	ENST00000345512.3	+	14	2403	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	PTPRU_ENST00000373779.3_Silent_p.V758V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.V758V|PTPRU_ENST00000428026.2_Silent_p.V758V|PTPRU_ENST00000356870.3_Silent_p.V758V|PTPRU_ENST00000460170.2_Silent_p.V758V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	758					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGCTTGCTGTCCTCATCCTTC	0.617																																																	0								ENSG00000060656						97	85	89					1																	29611337		2203	4300	6503	PTPRU	SO:0001819	synonymous_variant	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2274C>T	1.37:g.29611337C>T		Somatic	0	66	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V758	ENST00000345512.3	37	c.2274	CCDS334.1	1																																																																																			-	NULL		0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	C		-		29611337	1	no_errors	ENST00000345512	ensembl	human	known	74_37	silent	SNP	0.997	T	T	29611337	C	T	29611337	2	4	205	1	0	0	0	0	0	0	0	1	12821	842	30	2		2	PTPRU	1	29611337	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	12188912	29611337	219639284	7	16528											
COL16A1	1307	genome.wustl.edu	37	chr1	32124108	32124108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggggccagggtgtccaGgggggccgggctggcctggg	24	10	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:32124108G>A	ENST00000373672.3	-	64	4517	c.4001C>T	c.(4000-4002)cCt>cTt	p.P1334L	RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000591929.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.P1334L|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1334	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGGTGTCCAGGGGGGCCGGG	0.602																																					Colon(143;498 1786 21362 25193 36625)												0								ENSG00000084636						12	14	13					1																	32124108		1863	4096	5959	COL16A1	SO:0001583	missense	0			-	HGNC	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4001C>T	1.37:g.32124108G>A	ENSP00000362776:p.Pro1334Leu	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P1334L	ENST00000373672.3	37	c.4001	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678725	0.68042	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.94232	-3.38;-3.38;-3.17	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.96445	0.8840	M	0.84082	2.675	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.64776	0.852;0.929	D	0.96547	0.9405	10	0.51188	T	0.08	.	16.8521	0.85996	0.0:0.0:1.0:0.0	.	1334;1332	Q07092;Q07092-2	COGA1_HUMAN;.	L	1334;1334;191	ENSP00000362776:P1334L;ENSP00000271069:P1334L;ENSP00000390281:P191L	ENSP00000271069:P1334L	P	-	2	0	COL16A1	31896695	1.000000	0.71417	0.943000	0.38184	0.995000	0.86356	5.206000	0.65192	2.321000	0.78463	0.655000	0.94253	CCT	-	NULL		0.602	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	protein_coding	OTTHUMT00000011057.2	G	NM_001856	-		32124108	-1	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	SNP	0.998	A	A	32124108	G	A	32124108	3	1	205	1	0	0	0	0	1	0	0	0	3675	1000	35	2	845	2	COL16A1	1	32124108	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2512771	32124108	217126513	8	16529											
CSMD2	114784	genome.wustl.edu	37	chr1	34209095	34209095	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggccaggtggatgcggctCtcaggcctggccaggatgag	17	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:34209095C>T	ENST00000373381.4	-	14	2135	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	613	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGCGGCTCTCAGGCCTGG	0.607																																																	0								ENSG00000121904						79	80	79					1																	34209095		2203	4300	6503	CSMD2	SO:0001819	synonymous_variant	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1959G>A	1.37:g.34209095C>T		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E653	ENST00000373381.4	37	c.1959		1																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		C	NM_052896	-		34209095	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	SNP	1.000	T	T	34209095	C	T	34209095	2	4	205	1	0	0	0	0	0	0	0	1	3947	912	32	2		2	CSMD2	1	34209095	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2084987	34209095	215041526	9	16530											
DLGAP3	58512	genome.wustl.edu	37	chr1	35370254	35370254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcccccttgcggtccttgCtcttgctcctcttgccgtgc	8	18	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:35370254C>T	ENST00000373347.1	-	3	999	c.731G>A	c.(730-732)aGc>aAc	p.S244N	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.S244N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	244					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			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)				GCGGTCCTTGCTCTTGCTCCT	0.657																																																	0								ENSG00000116544						124	107	113					1																	35370254		2203	4300	6503	DLGAP3	SO:0001583	missense	0			-	HGNC	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.731G>A	1.37:g.35370254C>T	ENSP00000362444:p.Ser244Asn	Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	65	20.73	Q5TDD5|Q9H3X7	Missense_Mutation	SNP							pfam_GKAP	p.S244N	ENST00000373347.1	37	c.731	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358488	0.82243	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.36157	1.27;1.27	4.85	4.85	0.62838	.	0.094445	0.64402	D	0.000001	T	0.59689	0.2212	M	0.66439	2.03	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.62676	-0.6804	10	0.59425	D	0.04	-14.8034	18.335	0.90285	0.0:1.0:0.0:0.0	.	244	O95886	DLGP3_HUMAN	N	244	ENSP00000362444:S244N;ENSP00000235180:S244N	ENSP00000235180:S244N	S	-	2	0	DLGAP3	35142841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.931000	0.70113	2.409000	0.81822	0.655000	0.94253	AGC	-	NULL		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	protein_coding	OTTHUMT00000011554.1	C	NM_021234	-		35370254	-1	no_errors	ENST00000235180	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35370254	C	T	35370254	3	4	205	1	0	0	0	0	1	0	0	0	4563	797	28	2	2248	2	DLGAP3	1	35370254	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1161159	35370254	213880367	10	16531											
C1orf87	127795	genome.wustl.edu	37	chr1	60463384	60463384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttcacagctggattcacGaagggctgggagactggcct	13	10	3	1	rs368478097		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:60463384G>A	ENST00000371201.3	-	11	1484	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	C1orf87_ENST00000395552.1_Silent_p.F93F|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.F230F	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	459							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGATTCACGAAGGGCTGGG	0.502																																					NSCLC(75;811 1386 4923 13371 51772)												0								ENSG00000162598	G		0,4406		0,0,2203	119	115	117		1377	-10.6	0	1		117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C1orf87	NM_152377.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		459/547	60463384	2,13004	2203	4300	6503	C1orf87	SO:0001819	synonymous_variant	0			-	HGNC	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1377C>T	1.37:g.60463384G>A		Somatic	0	70	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	87	20.18	Q6ZU07|Q8IVS0	Silent	SNP							NULL	p.F459	ENST00000371201.3	37	c.1377	CCDS614.1	1																																																																																			-	NULL		0.502	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	protein_coding	OTTHUMT00000024943.1	G	NM_152377	-		60463384	-1	no_errors	ENST00000371201	ensembl	human	known	74_37	silent	SNP	0.000	A	A	60463384	G	A	60463384	2	1	205	1	0	0	0	0	0	0	0	1	2066	1049	37	1		1	C1orf87	1	60463384	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	25093130	60463384	188787237	11	16532											
ELTD1	64123	genome.wustl.edu	37	chr1	79392644	79392644	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtttgagctcattgagactGaaattactgaagatatgact	10	5	1	6			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:79392644G>A	ENST00000370742.3	-	8	1073	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	337					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CATTGAGACTGAAATTACTGA	0.333																																																	0								ENSG00000162618						127	116	119					1																	79392644		1831	4086	5917	ELTD1	SO:0001583	missense	0			-	HGNC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1010C>T	1.37:g.79392644G>A	ENSP00000359778:p.Ser337Leu	Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	44	20.00	B1AR71|Q5KU34	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S337L	ENST00000370742.3	37	c.1010	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194743	0.78902	.	.	ENSG00000162618	ENST00000370742	T	0.11604	2.76	6.02	6.02	0.97574	Domain of unknown function DUF3497 (1);	0.049908	0.85682	D	0.000000	T	0.16300	0.0392	L	0.47716	1.5	0.43531	D	0.995817	P	0.46578	0.88	P	0.56088	0.791	T	0.00465	-1.1723	9	.	.	.	.	20.5345	0.99232	0.0:0.0:1.0:0.0	.	337	Q9HBW9	ELTD1_HUMAN	L	337	ENSP00000359778:S337L	.	S	-	2	0	ELTD1	79165232	1.000000	0.71417	0.998000	0.56505	0.535000	0.34838	6.665000	0.74442	2.859000	0.98148	0.544000	0.68410	TCA	-	pfam_DUF3497		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	protein_coding	OTTHUMT00000026859.1	G	NM_022159	-		79392644	-1	no_errors	ENST00000370742	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79392644	G	A	79392644	3	1	205	1	0	0	0	0	1	0	0	0	5086	1294	45	2	1094	2	ELTD1	1	79392644	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	18929260	79392644	169857977	12	16533											
LPHN2	23266	genome.wustl.edu	37	chr1	82372860	82372860	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgtgatgctgacccatttCagatggagaatacagactgc	10	8	1	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:82372860C>T	ENST00000370728.1	+	6	877	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q78*			O95490	LPHN2_HUMAN	latrophilin 2	78	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGACCCATTTCAGATGGAGAA	0.423																																																	0								ENSG00000117114						171	157	162					1																	82372860		2203	4300	6503	LPHN2	SO:0001587	stop_gained	0			-	HGNC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.232C>T	1.37:g.82372860C>T	ENSP00000359763:p.Gln78*	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	12.99	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP							pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.Q78*	ENST00000370728.1	37	c.232		1	.	.	.	.	.	.	.	.	.	.	C	42	9.791055	0.99264	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.8804	0.92353	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000271029:Q78X	Q	+	1	0	LPHN2	82145448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.794000	0.69067	2.527000	0.85204	0.557000	0.71058	CAG	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	C	NM_012302	-		82372860	1	no_errors	ENST00000370717	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	82372860	C	T	82372860	4	4	205	1	0	0	0	0	0	1	0	0	8918	827	29	2	238	2	LPHN2	1	82372860	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2980216	82372860	166877761	13	16534											
CLCA1	1179	genome.wustl.edu	37	chr1	86959980	86959980	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attacagtgacttccaaaacGaacaaggacaccagcaaatt	6	10	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:86959980G>A	ENST00000234701.3	+	12	2142	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_ENST00000394711.1_Silent_p.T597T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	597					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517																																																	0								ENSG00000016490						101	88	92					1																	86959980		2203	4300	6503	CLCA1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1791G>A	1.37:g.86959980G>A		Somatic	0	66	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	61	17.57	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP							pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.T597	ENST00000234701.3	37	c.1791	CCDS709.1	1																																																																																			-	pfam_DUF1973,tigrfam_CaCC_prot		0.517	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	protein_coding	OTTHUMT00000028277.1	G	NM_001285	-		86959980	1	no_errors	ENST00000234701	ensembl	human	known	74_37	silent	SNP	0.994	A	A	86959980	G	A	86959980	2	1	205	1	0	0	0	0	0	0	0	1	3459	1045	37	1		1	CLCA1	1	86959980	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4587120	86959980	162290641	14	16535											
GBP2	2634	genome.wustl.edu	37	chr1	89582835	89582835	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttaggagcgggccaatcGaagacgaagcacttcctctt	10	11	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:89582835G>A	ENST00000370466.3	-	6	976	c.708C>T	c.(706-708)ttC>ttT	p.F236F	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	236	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CGGGCCAATCGAAGACGAAGC	0.428																																																	0								ENSG00000162645						98	92	94					1																	89582835		2203	4300	6503	GBP2	SO:0001819	synonymous_variant	0			-	HGNC	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.708C>T	1.37:g.89582835G>A		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	58	10.77	Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.F236	ENST00000370466.3	37	c.708	CCDS719.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.428	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	protein_coding	OTTHUMT00000029406.2	G	NM_004120	-		89582835	-1	no_errors	ENST00000370466	ensembl	human	known	74_37	silent	SNP	0.954	A	A	89582835	G	A	89582835	2	1	205	1	0	0	0	0	0	0	0	1	6276	1049	37	1		1	GBP2	1	89582835	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2622855	89582835	159667786	15	16536											
RPL5	6125	genome.wustl.edu	37	chr1	93306153	93306153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgctgctatacgagagaatCcagtctatgaaaagaagccc	9	9	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:93306153C>T	ENST00000370321.3	+	7	841	c.751C>T	c.(751-753)Cca>Tca	p.P251S	SNORA66_ENST00000515986.1_RNA|SNORA66_ENST00000384792.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	251					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ACGAGAGAATCCAGTCTATGA	0.378																																																	0								ENSG00000122406						110	115	113					1																	93306153		2203	4298	6501	RPL5	SO:0001583	missense	0			-	HGNC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.751C>T	1.37:g.93306153C>T	ENSP00000359345:p.Pro251Ser	Somatic	0	69	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP							pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.P251S	ENST00000370321.3	37	c.751	CCDS741.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993760	0.93167	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	T	0.65549	-0.16	5.26	5.26	0.73747	.	0.053407	0.85682	D	0.000000	T	0.77032	0.4071	M	0.93150	3.385	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.52309	0.695;0.695	D	0.83708	0.0186	10	0.66056	D	0.02	.	19.2432	0.93891	0.0:1.0:0.0:0.0	.	251;251	A2RUM7;P46777	.;RL5_HUMAN	S	201;251	ENSP00000359345:P251S	ENSP00000359345:P251S	P	+	1	0	RPL5	93078741	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.763000	0.85283	2.609000	0.88269	0.655000	0.94253	CCA	-	NULL		0.378	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	protein_coding	OTTHUMT00000030058.2	C	NM_000969	-		93306153	1	no_errors	ENST00000370321	ensembl	human	known	74_37	missense	SNP	1.000	T	T	93306153	C	T	93306153	3	4	205	1	0	0	0	0	1	0	0	0	13605	855	30	2	777	2	RPL5	1	93306153	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3723318	93306153	155944468	16	16537											
S1PR1	1901	genome.wustl.edu	37	chr1	101704967	101704967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatcgccattgagcgcTatatcacaatgctgaaaatg	8	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:101704967T>C	ENST00000305352.6	+	2	802	c.427T>C	c.(427-429)Tat>Cat	p.Y143H	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	143					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CATTGAGCGCTATATCACAAT	0.552											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000170989						93	87	89					1																	101704967		2203	4300	6503	S1PR1	SO:0001583	missense	0			-	HGNC	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.427T>C	1.37:g.101704967T>C	ENSP00000305416:p.Tyr143His	Somatic	0	23	0	1360	0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.Y143H	ENST00000305352.6	37	c.427	CCDS777.1	1	.	.	.	.	.	.	.	.	.	.	T	2.279	-0.365174	0.05103	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	D	0.87966	-2.32	5.61	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.110345	0.64402	D	0.000006	T	0.53867	0.1823	N	0.11892	0.195	0.52501	D	0.999958	B	0.06786	0.001	B	0.06405	0.002	T	0.53005	-0.8499	10	0.02654	T	1	.	11.4157	0.49951	0.0:0.0706:0.0:0.9294	.	143	P21453	S1PR1_HUMAN	H	143	ENSP00000305416:Y143H	ENSP00000305416:Y143H	Y	+	1	0	S1PR1	101477555	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.789000	0.69029	0.967000	0.38186	0.374000	0.22700	TAT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	protein_coding	OTTHUMT00000029908.1	T	NM_001400	-		101704967	1	no_errors	ENST00000305352	ensembl	human	known	74_37	missense	SNP	1.000	C	C	101704967	T	C	101704967	3	2	205	1	0	0	0	0	1	0	0	0	13801	1522	53	5	429	5	S1PR1	1	101704967	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	8398814	101704967	147545654	17	16538											
COL11A1	1301	genome.wustl.edu	37	chr1	103355091	103355091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgttctcctggaggacCaatcaggccaattaaaccag	8	13	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:103355091C>T	ENST00000370096.3	-	59	4696	c.4384G>A	c.(4384-4386)Ggt>Agt	p.G1462S	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1346S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1423S|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1474S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1462	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGAGGACCAATCAGGCCA	0.388																																																	0								ENSG00000060718						66	62	64					1																	103355091		2203	4300	6503	COL11A1	SO:0001583	missense	0			-	HGNC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4384G>A	1.37:g.103355091C>T	ENSP00000359114:p.Gly1462Ser	Somatic	0	107	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	102	19.69	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1474S	ENST00000370096.3	37	c.4420	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690420	0.88735	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.94542	3.55	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	0.998;0.999;0.999;1.0;0.999	D	0.97219	0.9876	10	0.87932	D	0	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	1346;1423;1474;1462;682	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1462;1474;1423;682;1346	ENSP00000359114:G1462S;ENSP00000351163:G1474S;ENSP00000302551:G1423S;ENSP00000426533:G1346S	ENSP00000302551:G1423S	G	-	1	0	COL11A1	103127679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.560000	0.86352	0.563000	0.77884	GGT	-	pfam_Collagen		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	C	NM_080630	-		103355091	-1	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103355091	C	T	103355091	3	4	205	1	0	0	0	0	1	0	0	0	3669	594	21	2	1072	2	COL11A1	1	103355091	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1650124	103355091	145895530	18	16539											
FNDC7	163479	genome.wustl.edu	37	chr1	109261651	109261651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaatccctggggatgactCcacctgcaatcagagaacaa	9	12	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:109261651C>T	ENST00000370017.3	+	4	855	c.578C>T	c.(577-579)tCc>tTc	p.S193F	FNDC7_ENST00000271311.2_Missense_Mutation_p.S194F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	193	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GGGGATGACTCCACCTGCAAT	0.473																																																	0								ENSG00000143107						72	61	65					1																	109261651		692	1591	2283	FNDC7	SO:0001583	missense	0			-	HGNC		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.578C>T	1.37:g.109261651C>T	ENSP00000359034:p.Ser193Phe	Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S194F	ENST00000370017.3	37	c.581	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822751	0.16678	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.27720	1.93;1.65	5.78	5.78	0.91487	.	0.236518	0.42053	D	0.000772	T	0.07007	0.0178	N	0.15975	0.35	0.35584	D	0.806494	B	0.13145	0.007	B	0.12156	0.007	T	0.22417	-1.0217	10	0.11794	T	0.64	-23.3045	10.1086	0.42548	0.0:0.8471:0.0:0.1529	.	193	E9PAZ5	.	F	193;194	ENSP00000359034:S193F;ENSP00000271311:S194F	ENSP00000271311:S194F	S	+	2	0	FNDC7	109063174	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.047000	0.30367	2.736000	0.93811	0.650000	0.86243	TCC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	protein_coding	OTTHUMT00000030589.4	C	NM_173532	-		109261651	1	no_errors	ENST00000271311	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109261651	C	T	109261651	3	4	205	1	0	0	0	0	1	0	0	0	5975	855	30	2	592	2	FNDC7	1	109261651	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5906560	109261651	139988970	19	16540											
AKNAD1	254268	genome.wustl.edu	37	chr1	109391374	109391374	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggataaaattcattacCagcttcttgtcttgcaaatg	7	8	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:109391374C>T	ENST00000370001.3	-	5	1513	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	AKNAD1_ENST00000357393.4_Splice_Site_p.L122L|AKNAD1_ENST00000369994.1_Splice_Site_p.L415L|AKNAD1_ENST00000369995.3_Splice_Site_p.L415L	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	415						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AATTCATTACCAGCTTCTTGT	0.333																																																	0								ENSG00000162641						85	98	94					1																	109391374		2202	4298	6500	AKNAD1	SO:0001630	splice_region_variant	0			-	HGNC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1245+1G>A	1.37:g.109391374C>T		Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	65	12.16	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP							pfam_TF_AT-hook	p.L415	ENST00000370001.3	37	c.1245	CCDS791.2	1																																																																																			-	pfam_TF_AT-hook		0.333	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	protein_coding	OTTHUMT00000030923.2	C	NM_152763	-	Silent	109391374	-1	no_errors	ENST00000370001	ensembl	human	known	74_37	silent	SNP	0.995	T	T	109391374	C	T	109391374	5	4	205	1	0	0	0	0	0	0	1	0	464	608	21	2	1313	2	AKNAD1	1	109391374	Splice_Site	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	129723	109391374	139859247	20	16541											
LRIG2	9860	genome.wustl.edu	37	chr1	113662088	113662088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagagagccatctgcctttCccaccaaccatgagaggata	8	13	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:113662088C>T	ENST00000361127.5	+	17	3112	c.2914C>T	c.(2914-2916)Ccc>Tcc	p.P972S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	972					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATCTGCCTTTCCCACCAACCA	0.453																																																	0								ENSG00000198799						120	114	116					1																	113662088		2203	4300	6503	LRIG2	SO:0001583	missense	0			-	HGNC	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2914C>T	1.37:g.113662088C>T	ENSP00000355396:p.Pro972Ser	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	Q9NSN2	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P972S	ENST00000361127.5	37	c.2914	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783680	0.49891	.	.	ENSG00000198799	ENST00000361127	T	0.61980	0.06	5.3	5.3	0.74995	.	0.081359	0.49305	D	0.000160	T	0.40546	0.1121	L	0.28054	0.825	0.42283	D	0.992103	B	0.02656	0.0	B	0.04013	0.001	T	0.29366	-1.0014	10	0.51188	T	0.08	.	19.3081	0.94173	0.0:1.0:0.0:0.0	.	972	O94898	LRIG2_HUMAN	S	972	ENSP00000355396:P972S	ENSP00000355396:P972S	P	+	1	0	LRIG2	113463611	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	2.579000	0.46059	2.638000	0.89438	0.591000	0.81541	CCC	-	NULL		0.453	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	protein_coding	OTTHUMT00000033549.2	C	NM_014813	-		113662088	1	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113662088	C	T	113662088	3	4	205	1	0	0	0	0	1	0	0	0	8947	855	30	2	2980	2	LRIG2	1	113662088	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	4270714	113662088	135588533	21	16542											
RPRD2	23248	genome.wustl.edu	37	chr1	150444277	150444277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagcttgtctcaatctacCactgggcatctcagtttgcc	7	12	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:150444277C>T	ENST00000369068.4	+	11	2857	c.2853C>T	c.(2851-2853)acC>acT	p.T951T	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000401000.4_Silent_p.T925T	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	951						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCAATCTACCACTGGGCATC	0.517																																																	0								ENSG00000163125						295	304	301					1																	150444277		2082	4221	6303	RPRD2	SO:0001819	synonymous_variant	0			-	HGNC	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2853C>T	1.37:g.150444277C>T		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	61	22.50	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP							pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom	p.T951	ENST00000369068.4	37	c.2853	CCDS44216.1	1																																																																																			-	NULL		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	protein_coding	OTTHUMT00000035844.1	C	NM_015203	-		150444277	1	no_errors	ENST00000369068	ensembl	human	known	74_37	silent	SNP	0.657	T	T	150444277	C	T	150444277	2	4	205	1	0	0	0	0	0	0	0	1	13625	581	21	2		2	RPRD2	1	150444277	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	36782189	150444277	98806344	22	16543											
ZNF687	5298	genome.wustl.edu	37	chr1	151263000	151263000	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcagcttggggcccagtCccctggccgggggaccacct	14	16	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:151263000C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.V1077V			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			GGGGCCCAGTCCCCTGGCCGG	0.622																																					Colon(154;765 1838 9854 28443 37492)												0								ENSG00000143373						59	67	64					1																	151263000		2203	4300	6503	ZNF687	SO:0001628	intergenic_variant	0			-	HGNC	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151263000C>T		Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	48	26.15	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1057F	ENST00000368873.1	37	c.3170		1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509963	0.64522	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000426871;ENST00000436614	T;T	0.00966	5.49;5.49	5.09	5.09	0.68999	.	0.000000	0.33854	U	0.004495	T	0.01592	0.0051	L	0.54323	1.7	0.80722	D	1	D	0.62365	0.991	P	0.55161	0.77	T	0.67499	-0.5655	10	0.59425	D	0.04	.	16.0337	0.80603	0.0:1.0:0.0:0.0	.	1057	Q8N1G0	ZN687_HUMAN	F	1057;1057;680;25	ENSP00000336620:S1057F;ENSP00000319829:S1057F	ENSP00000319829:S1057F	S	+	2	0	ZNF687	149529624	0.929000	0.31497	1.000000	0.80357	0.749000	0.42624	3.239000	0.51360	2.635000	0.89317	0.563000	0.77884	TCC	-	NULL		0.622	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	protein_coding	OTTHUMT00000034400.3	C	NM_002651	-		151263000	1	no_errors	ENST00000324048	ensembl	human	known	74_37	missense	SNP	0.994	T	T	151263000	C	T	151263000	1	4	205	0	1	0	0	0	0	0	0	0	18099	855	30	2		2	ZNF687	1	151263000	IGR	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	818723	151263000	97987621	23	16544											
CRNN	49860	genome.wustl.edu	37	chr1	152383410	152383410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatccacagttgctggatCgtggggtttctgaggagaag	14	8	2	2	rs187547075	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:152383410C>T	ENST00000271835.3	-	3	210	c.148G>A	c.(148-150)Gat>Aat	p.D50N	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	50	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGCTGGATCGTGGGGTTTC	0.547																																																	0								ENSG00000143536						34	34	34					1																	152383410		2176	4254	6430	CRNN	SO:0001583	missense	0			-	HGNC	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.148G>A	1.37:g.152383410C>T	ENSP00000271835:p.Asp50Asn	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	B2RE60|Q8N613	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D50N	ENST00000271835.3	37	c.148	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858241	0.51376	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.14766	2.48	4.73	4.73	0.59995	EF-hand-like domain (1);	0.000000	0.48286	D	0.000183	T	0.29458	0.0734	M	0.82923	2.615	0.31956	N	0.609071	D	0.89917	1.0	D	0.91635	0.999	T	0.10177	-1.0641	10	0.66056	D	0.02	.	13.0803	0.59109	0.0:1.0:0.0:0.0	.	50	Q9UBG3	CRNN_HUMAN	N	50	ENSP00000271835:D50N	ENSP00000271835:D50N	D	-	1	0	CRNN	150650034	0.914000	0.31030	0.425000	0.26659	0.103000	0.19146	3.788000	0.55446	2.449000	0.82847	0.305000	0.20034	GAT	-	pfscan_EF_hand_dom		0.547	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	protein_coding	OTTHUMT00000034503.1	C	NM_016190	-		152383410	-1	no_errors	ENST00000271835	ensembl	human	known	74_37	missense	SNP	0.752	T	T	152383410	C	T	152383410	3	4	205	1	0	0	0	0	1	0	0	0	3894	884	31	1	1343	1	CRNN	1	152383410	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1120410	152383410	96867211	24	16545											
ASH1L	55870	genome.wustl.edu	37	chr1	155450339	155450339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttggcaatcggcgtttaagGaagtcatgatctacaaatga	10	6	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:155450339G>A	ENST00000368346.3	-	3	2961	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	ASH1L_ENST00000392403.3_Silent_p.F774F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	774					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCGTTTAAGGAAGTCATGAT	0.383																																																	0								ENSG00000116539						152	153	152					1																	155450339		2202	4296	6498	ASH1L	SO:0001819	synonymous_variant	0			-	HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2322C>T	1.37:g.155450339G>A		Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP							pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.F774	ENST00000368346.3	37	c.2322		1																																																																																			-	NULL		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	G	NM_018489	-		155450339	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	silent	SNP	1.000	A	A	155450339	G	A	155450339	2	1	205	1	0	0	0	0	0	0	0	1	1041	1165	41	2		2	ASH1L	1	155450339	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3066929	155450339	93800282	25	16546											
GON4L	54856	genome.wustl.edu	37	chr1	155723175	155723175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccaccaactcatggggctCcttgctcttgtaggatttgc	10	13	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:155723175C>T	ENST00000368331.1	-	29	5710	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	GON4L_ENST00000271883.5_Missense_Mutation_p.E1888K|GON4L_ENST00000437809.1_Missense_Mutation_p.E1888K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1888					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCATGGGGCTCCTTGCTCTTG	0.567																																																	0								ENSG00000116580						116	114	114					1																	155723175		1928	4132	6060	GON4L	SO:0001583	missense	0			-	HGNC	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5662G>A	1.37:g.155723175C>T	ENSP00000357315:p.Glu1888Lys	Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	24.49	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP							pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1888K	ENST00000368331.1	37	c.5662		1	.	.	.	.	.	.	.	.	.	.	C	33	5.234159	0.95207	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10763	2.84;2.84;2.84	5.15	5.15	0.70609	.	0.233058	0.38837	N	0.001557	T	0.09992	0.0245	N	0.22421	0.69	0.42153	D	0.991565	P;D	0.55605	0.953;0.972	P;P	0.53912	0.551;0.737	T	0.10497	-1.0627	10	0.51188	T	0.08	.	18.4163	0.90571	0.0:1.0:0.0:0.0	.	1888;1888	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	K	1888	ENSP00000396117:E1888K;ENSP00000357315:E1888K;ENSP00000271883:E1888K	ENSP00000271883:E1888K	E	-	1	0	GON4L	153989799	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.185000	0.65076	2.683000	0.91414	0.455000	0.32223	GAG	-	NULL		0.567	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	protein_coding		C	NM_032292	-		155723175	-1	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155723175	C	T	155723175	3	4	205	1	0	0	0	0	1	0	0	0	6574	864	30	2	1076	2	GON4L	1	155723175	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	272836	155723175	93527446	26	16547											
FCRL1	115350	genome.wustl.edu	37	chr1	157771909	157771909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctctcagggcctcacagtGaagctccagcacatcctcca	8	17	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:157771909G>A	ENST00000368176.3	-	5	749	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	FCRL1_ENST00000491942.1_Missense_Mutation_p.H228Y|FCRL1_ENST00000358292.3_Missense_Mutation_p.H228Y|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	228	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCTCACAGTGAAGCTCCAGC	0.612																																					GBM(54;482 1003 11223 30131 35730)												0								ENSG00000163534						40	41	40					1																	157771909		2203	4300	6503	FCRL1	SO:0001583	missense	0			-	HGNC	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.682C>T	1.37:g.157771909G>A	ENSP00000357158:p.His228Tyr	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP							pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H228Y	ENST00000368176.3	37	c.682	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736339	0.30774	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03004	4.08;4.08;4.08	4.86	2.99	0.34606	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.766837	0.12271	N	0.483812	T	0.07052	0.0179	M	0.90977	3.165	0.26818	N	0.96885	P;P;P	0.49559	0.679;0.776;0.925	P;P;P	0.52514	0.535;0.517;0.701	T	0.14811	-1.0459	9	.	.	.	.	7.3763	0.26831	0.1972:0.0:0.8028:0.0	.	228;228;228	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	Y	228	ENSP00000351039:H228Y;ENSP00000357158:H228Y;ENSP00000418130:H228Y	.	H	-	1	0	FCRL1	156038533	0.384000	0.25164	0.964000	0.40570	0.008000	0.06430	1.009000	0.29886	0.751000	0.32900	-0.140000	0.14226	CAC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.612	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	protein_coding	OTTHUMT00000051401.1	G	NM_052938	-		157771909	-1	no_errors	ENST00000368176	ensembl	human	known	74_37	missense	SNP	0.947	A	A	157771909	G	A	157771909	3	1	205	1	0	0	0	0	1	0	0	0	5796	1290	45	2	701	2	FCRL1	1	157771909	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2048734	157771909	91478712	27	16548											
OR10K1	391109	genome.wustl.edu	37	chr1	158435387	158435387	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagactgtggtgagagagttCgtcgtcctcggcttctcatc	12	10	1	3	rs200159566	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:158435387C>T	ENST00000289451.2	+	1	116	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGAGAGAGTTCGTCGTCCTCG	0.512													C|||	2	0.000399361	0	0.0014	5008	,	,		19245	0		0	False		,,,				2504	0.001																0								ENSG00000173285						97	85	89					1																	158435387		2203	4300	6503	OR10K1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.36C>T	1.37:g.158435387C>T		Somatic	0	58	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	75	9.52	Q6IFS2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F12	ENST00000289451.2	37	c.36	CCDS30897.1	1																																																																																			-	NULL		0.512	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	protein_coding	OTTHUMT00000046367.1	C		rs200159566		158435387	1	no_errors	ENST00000289451	ensembl	human	known	74_37	silent	SNP	0.858	T	T	158435387	C	T	158435387	2	4	205	1	0	0	0	0	0	0	0	1	10915	883	31	1		1	OR10K1	1	158435387	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	663478	158435387	90815234	28	16549											
SPTA1	6708	genome.wustl.edu	37	chr1	158612247	158612247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcgctacactcaatcaggGagttccccaggttgatgacg	11	11	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:158612247G>A	ENST00000368147.4	-	33	4871	c.4691C>T	c.(4690-4692)tCc>tTc	p.S1564F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1564					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S1564Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCAATCAGGGAGTTCCCCAG	0.473																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000163554						104	104	104					1																	158612247		1991	4172	6163	SPTA1	SO:0001583	missense	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4691C>T	1.37:g.158612247G>A	ENSP00000357129:p.Ser1564Phe	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S1564F	ENST00000368147.4	37	c.4691	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683251	0.68157	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	5.26	5.26	0.73747	.	0.278867	0.19449	N	0.113989	T	0.59142	0.2172	M	0.70275	2.135	0.46954	D	0.999269	P	0.44659	0.84	P	0.57009	0.811	T	0.60414	-0.7268	10	0.66056	D	0.02	.	17.63	0.88103	0.0:0.0:1.0:0.0	.	1564	P02549	SPTA1_HUMAN	F	1564	ENSP00000357130:S1564F;ENSP00000357129:S1564F	ENSP00000357129:S1564F	S	-	2	0	SPTA1	156878871	1.000000	0.71417	0.749000	0.31150	0.297000	0.27493	8.584000	0.90798	2.733000	0.93635	0.655000	0.94253	TCC	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	G	NM_003126	-		158612247	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	SNP	1.000	A	A	158612247	G	A	158612247	3	1	205	1	0	0	0	0	1	0	0	0	15123	1174	41	2	2648	2	SPTA1	1	158612247	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	176860	158612247	90638374	29	16550											
IGSF9	57549	genome.wustl.edu	37	chr1	159899162	159899162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgacttcccggtcGgagagaagataagaggtgga	16	7	0	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:159899162G>A	ENST00000368094.1	-	18	2545	c.2348C>T	c.(2347-2349)cCg>cTg	p.P783L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P767L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	783					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCCCGGTCGGAGAGAAGAT	0.512																																																	0								ENSG00000085552						123	115	118					1																	159899162		2203	4300	6503	IGSF9	SO:0001583	missense	0			-	HGNC	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2348C>T	1.37:g.159899162G>A	ENSP00000357073:p.Pro783Leu	Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22		Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P783L	ENST00000368094.1	37	c.2348	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553786	0.27739	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.64438	-0.1;-0.01	5.28	1.32	0.21799	.	0.000000	0.38605	N	0.001624	T	0.24624	0.0597	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21245	-1.0251	9	.	.	.	-6.3751	1.754	0.02978	0.2304:0.1412:0.4834:0.145	.	783	Q9P2J2	TUTLA_HUMAN	L	767;783	ENSP00000355049:P767L;ENSP00000357073:P783L	.	P	-	2	0	IGSF9	158165786	0.998000	0.40836	0.007000	0.13788	0.110000	0.19582	3.203000	0.51075	-0.010000	0.14271	0.561000	0.74099	CCG	-	NULL		0.512	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	protein_coding	OTTHUMT00000059115.1	G	NM_020789	-		159899162	-1	no_errors	ENST00000368094	ensembl	human	known	74_37	missense	SNP	0.004	A	A	159899162	G	A	159899162	3	1	205	1	0	0	0	0	1	0	0	0	7607	1116	39	1	1207	1	IGSF9	1	159899162	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1286915	159899162	89351459	30	16551											
NCSTN	23385	genome.wustl.edu	37	chr1	160326887	160326887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctaatgagacggaccgactCccccggtgtgtgcgttctac	11	13	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:160326887C>T	ENST00000294785.5	+	16	1976	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	NCSTN_ENST00000368063.1_Silent_p.L597L|NCSTN_ENST00000535857.1_Silent_p.L479L|NCSTN_ENST00000368065.4_Silent_p.L359L|NCSTN_ENST00000392212.4_Silent_p.L597L	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	617					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGACCGACTCCCCCGGTGTG	0.537																																																	0								ENSG00000162736						186	158	167					1																	160326887		2203	4300	6503	NCSTN	SO:0001819	synonymous_variant	0			-	HGNC	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1851C>T	1.37:g.160326887C>T		Somatic	0	68	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	Q5T207|Q5T208|Q86VV5	Silent	SNP							pfam_Nicastrin	p.L617	ENST00000294785.5	37	c.1851	CCDS1203.1	1																																																																																			-	NULL		0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	protein_coding	OTTHUMT00000080622.1	C	NM_015331	-		160326887	1	no_errors	ENST00000294785	ensembl	human	known	74_37	silent	SNP	0.872	T	T	160326887	C	T	160326887	2	4	205	1	0	0	0	0	0	0	0	1	10243	842	30	2		2	NCSTN	1	160326887	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	427725	160326887	88923734	31	16552											
LMX1A	4009	genome.wustl.edu	37	chr1	165175183	165175183	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgtagacactctgctcGatggccaggagctgctgtgg	15	10	1	1	rs267598145		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:165175183G>A	ENST00000342310.3	-	8	1288	c.906C>T	c.(904-906)atC>atT	p.I302I	LMX1A_ENST00000367893.4_Silent_p.I302I|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Silent_p.I302I	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	302					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CACTCTGCTCGATGGCCAGGA	0.577																																																	0								ENSG00000162761						115	114	114					1																	165175183		2203	4300	6503	LMX1A	SO:0001819	synonymous_variant	0			-	HGNC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.906C>T	1.37:g.165175183G>A		Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP							pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.I302	ENST00000342310.3	37	c.906	CCDS1247.1	1																																																																																			-	NULL		0.577	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	protein_coding	OTTHUMT00000083668.2	G	NM_177398	-		165175183	-1	no_errors	ENST00000294816	ensembl	human	known	74_37	silent	SNP	0.532	A	A	165175183	G	A	165175183	2	1	205	1	0	0	0	0	0	0	0	1	8863	1048	37	1		1	LMX1A	1	165175183	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4848296	165175183	84075438	32	16553											
ASTN1	460	genome.wustl.edu	37	chr1	176913033	176913033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcacactcaccagtcaGgaagtcagggtcaggggtgg	16	9	4	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:176913033G>A	ENST00000367654.3	-	14	2606	c.2395C>T	c.(2395-2397)Ctg>Ttg	p.L799L	ASTN1_ENST00000424564.2_Silent_p.L791L|ASTN1_ENST00000367657.3_Silent_p.L791L|ASTN1_ENST00000361833.2_Silent_p.L791L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	799					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACCAGTCAGGAAGTCAGGG	0.493																																																	0								ENSG00000152092						88	76	80					1																	176913033		2203	4300	6503	ASTN1	SO:0001819	synonymous_variant	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2395C>T	1.37:g.176913033G>A		Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP							superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L799	ENST00000367654.3	37	c.2395		1																																																																																			-	NULL		0.493	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		G	NM_004319	-		176913033	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	SNP	1.000	A	A	176913033	G	A	176913033	2	1	205	1	0	0	0	0	0	0	0	1	1064	991	35	2		2	ASTN1	1	176913033	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	11737850	176913033	72337588	33	16554											
RNASEL	6041	genome.wustl.edu	37	chr1	182555704	182555704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagggtcagcaccatgacGaagcagaagttccacaatgt	10	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:182555704G>A	ENST00000367559.3	-	2	491	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	RNASEL_ENST00000539397.1_Missense_Mutation_p.R80C|RNASEL_ENST00000444138.1_Missense_Mutation_p.R80C	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	80					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCACCATGACGAAGCAGAAGT	0.522																																																	0								ENSG00000135828						103	89	94					1																	182555704		2203	4300	6503	RNASEL	SO:0001583	missense	0			-	HGNC	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.238C>T	1.37:g.182555704G>A	ENSP00000356530:p.Arg80Cys	Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	Q5W0L2|Q6AI46	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R80C	ENST00000367559.3	37	c.238	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170515	0.38315	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.64991	-0.13;-0.13;-0.13	4.71	-5.89	0.02282	Ankyrin repeat-containing domain (3);	2.343740	0.01503	N	0.017597	T	0.59362	0.2188	M	0.68317	2.08	0.09310	N	1	B;B;B	0.21147	0.052;0.052;0.052	B;B;B	0.16289	0.015;0.009;0.015	T	0.55592	-0.8117	10	0.49607	T	0.09	2.9407	11.6386	0.51220	0.0:0.592:0.1355:0.2725	.	80;80;80	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	C	80	ENSP00000356530:R80C;ENSP00000411147:R80C;ENSP00000440844:R80C	ENSP00000356530:R80C	R	-	1	0	RNASEL	180822327	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.186000	0.09670	-0.550000	0.06183	0.467000	0.42956	CGT	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.522	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	protein_coding	OTTHUMT00000085189.1	G	NM_021133	-		182555704	-1	no_errors	ENST00000367559	ensembl	human	known	74_37	missense	SNP	0.000	A	A	182555704	G	A	182555704	3	1	205	1	0	0	0	0	1	0	0	0	13424	1058	37	1	2011	1	RNASEL	1	182555704	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5642671	182555704	66694917	34	16555											
LAMC1	3915	genome.wustl.edu	37	chr1	183086567	183086567	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctactttcctcggtacttCattgctcctggtaagtaagg	9	10	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:183086567C>T	ENST00000258341.4	+	9	1934	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	559	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)			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						CTCGGTACTTCATTGCTCCTG	0.507																																																	0								ENSG00000135862						132	111	118					1																	183086567		2203	4300	6503	LAMC1	SO:0001819	synonymous_variant	0			-	HGNC	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.1677C>T	1.37:g.183086567C>T		Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	Q5VYE7	Silent	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.F559	ENST00000258341.4	37	c.1677	CCDS1351.1	1																																																																																			-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.507	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	C	NM_002293	-		183086567	1	no_errors	ENST00000258341	ensembl	human	known	74_37	silent	SNP	1.000	T	T	183086567	C	T	183086567	2	4	205	1	0	0	0	0	0	0	0	1	8616	825	29	2		2	LAMC1	1	183086567	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	530863	183086567	66164054	35	16556											
FAM5C	339479	genome.wustl.edu	37	chr1	190423993	190423993	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccatcagagagaacaattCagcaccagctctgcttcgcc	8	14	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:190423993C>T	ENST00000367462.3	-	2	259	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	10					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)											GAGAACAATTCAGCACCAGCT	0.488																																																	0								ENSG00000162670						77	77	77					1																	190423993		2203	4300	6503	BRINP3	SO:0001583	missense	0			-	HGNC	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.28G>A	1.37:g.190423993C>T	ENSP00000356432:p.Glu10Lys	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.E10K	ENST00000367462.3	37	c.28	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920968	0.33908	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.42131	2.56;0.98	5.57	4.66	0.58398	.	0.268305	0.32518	N	0.006000	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	B	0.25667	0.131	B	0.19666	0.026	T	0.05500	-1.0881	10	0.38643	T	0.18	.	12.1985	0.54311	0.0:0.9176:0.0:0.0824	.	10	Q76B58	FAM5C_HUMAN	K	10	ENSP00000356432:E10K;ENSP00000393441:E10K	ENSP00000356432:E10K	E	-	1	0	FAM5C	188690616	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.457000	0.66672	1.363000	0.46019	-0.136000	0.14681	GAA	-	NULL		0.488	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	protein_coding	OTTHUMT00000086278.1	C	NM_199051	-		190423993	-1	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	SNP	1.000	T	T	190423993	C	T	190423993	3	4	205	1	0	0	0	0	1	0	0	0	5596	835	29	2	2300	2	FAM5C	1	190423993	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7337426	190423993	58826628	36	16557											
KCNT2	343450	genome.wustl.edu	37	chr1	196438156	196438156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaactgcattaattatttCcaagatgaagggtattcgta	10	5	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:196438156C>T	ENST00000294725.9	-	6	1342	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_ENST00000367433.5_Missense_Mutation_p.E143K|KCNT2_ENST00000609185.1_Missense_Mutation_p.E143K|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E143K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	143					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)			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						TTAATTATTTCCAAGATGAAG	0.313																																																	0								ENSG00000162687						45	46	45					1																	196438156		2200	4297	6497	KCNT2	SO:0001583	missense	0			-	HGNC	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.427G>A	1.37:g.196438156C>T	ENSP00000294725:p.Glu143Lys	Somatic	0	91	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	121	14.79	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.E143K	ENST00000294725.9	37	c.427	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.391978	0.95988	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.19938	2.11;2.15;2.36	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000015	T	0.49558	0.1564	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.998;0.999	D;D;D;D	0.75020	0.968;0.985;0.985;0.968	T	0.50482	-0.8823	10	0.87932	D	0	-24.2561	18.1303	0.89599	0.0:1.0:0.0:0.0	.	143;143;143;143	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	K	143	ENSP00000356403:E143K;ENSP00000356401:E143K;ENSP00000294725:E143K	ENSP00000294725:E143K	E	-	1	0	KCNT2	194704779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.776000	0.75023	2.812000	0.96745	0.557000	0.71058	GAA	-	NULL		0.313	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503	-		196438156	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196438156	C	T	196438156	3	4	205	1	0	0	0	0	1	0	0	0	8094	864	30	2	3072	2	KCNT2	1	196438156	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6014163	196438156	52812465	37	16558											
CACNA1S	779	genome.wustl.edu	37	chr1	201020239	201020239	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccatagctgcaggccagtAggatctcctgccaggcctca	10	15	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:201020239A>T	ENST00000362061.3	-	33	4212	c.3986T>A	c.(3985-3987)cTa>cAa	p.L1329Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1310Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1329					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)	GCAGGCCAGTAGGATCTCCTG	0.572																																																	0								ENSG00000081248						129	110	116					1																	201020239		2203	4300	6503	CACNA1S	SO:0001583	missense	0			-	HGNC	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.3986T>A	1.37:g.201020239A>T	ENSP00000355192:p.Leu1329Gln	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.L1329Q	ENST00000362061.3	37	c.3986	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.301138	0.81136	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98762	-5.12;-5.12	4.43	4.43	0.53597	Ion transport (1);	0.115815	0.56097	D	0.000025	D	0.98893	0.9625	M	0.77406	2.37	0.48395	D	0.999641	D	0.57899	0.981	D	0.67725	0.953	D	0.99698	1.1003	10	0.87932	D	0	.	14.0248	0.64580	1.0:0.0:0.0:0.0	.	1329	Q13698	CAC1S_HUMAN	Q	1329;1310	ENSP00000355192:L1329Q;ENSP00000356307:L1310Q	ENSP00000355192:L1329Q	L	-	2	0	CACNA1S	199286862	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.309000	0.96252	1.775000	0.52247	0.374000	0.22700	CTA	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	A	NM_000069	-		201020239	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	SNP	1.000	T	T	201020239	A	T	201020239	3	4	205	1	0	0	0	0	1	0	0	0	2549	420	15	5	1683	5	CACNA1S	1	201020239	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	4582083	201020239	48230382	38	16559											
LGR6	59352	genome.wustl.edu	37	chr1	202283984	202283984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggactcaaagccacaccCcagtgtccagtgtagcccta	10	14	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:202283984C>T	ENST00000367278.3	+	17	1711	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L	LGR6_ENST00000439764.2_Missense_Mutation_p.P402L|LGR6_ENST00000255432.7_Missense_Mutation_p.P489L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	541					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AAGCCACACCCCAGTGTCCAG	0.562																																																	0								ENSG00000133067						102	90	94					1																	202283984		2203	4300	6503	LGR6	SO:0001583	missense	0			-	HGNC	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1622C>T	1.37:g.202283984C>T	ENSP00000356247:p.Pro541Leu	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.P541L	ENST00000367278.3	37	c.1622	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	6.378	0.437769	0.12104	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	D;D;D	0.85556	-2.0;-2.0;-2.0	5.56	3.68	0.42216	.	0.345254	0.31404	N	0.007709	T	0.77896	0.4199	L	0.53249	1.67	0.42288	D	0.992125	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.13407	0.009;0.005;0.003	T	0.65957	-0.6042	10	0.10636	T	0.68	.	8.4279	0.32739	0.2756:0.6542:0.0:0.0701	.	402;489;541	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	L	541;489;402	ENSP00000356247:P541L;ENSP00000255432:P489L;ENSP00000387869:P402L	ENSP00000255432:P489L	P	+	2	0	LGR6	200550607	0.990000	0.36364	0.944000	0.38274	0.341000	0.28922	1.203000	0.32284	0.706000	0.31912	-0.147000	0.13772	CCC	-	NULL		0.562	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	protein_coding	OTTHUMT00000099143.1	C	NM_021636	-		202283984	1	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	SNP	0.992	T	T	202283984	C	T	202283984	3	4	205	1	0	0	0	0	1	0	0	0	8760	623	22	2	1835	2	LGR6	1	202283984	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1263745	202283984	46966637	39	16560											
MYOG	4656	genome.wustl.edu	37	chr1	203054910	203054910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcactggcctggacaGtgctcgggggtccccagccc	16	15	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:203054910G>A	ENST00000241651.4	-	1	254	c.180C>T	c.(178-180)caC>caT	p.H60H		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	60					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|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)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GGCCTGGACAGTGCTCGGGGG	0.697																																																	0								ENSG00000122180						47	54	52					1																	203054910		2203	4299	6502	MYOG	SO:0001819	synonymous_variant	0			-	HGNC	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"Basic helix-loop-helix proteins"	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.180C>T	1.37:g.203054910G>A		Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	Q53XW6	Silent	SNP							pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.H60	ENST00000241651.4	37	c.180	CCDS1433.1	1																																																																																			-	pfam_Basic,smart_Basic		0.697	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOG	protein_coding	OTTHUMT00000100279.1	G	NM_002479	-		203054910	-1	no_errors	ENST00000241651	ensembl	human	known	74_37	silent	SNP	1.000	A	A	203054910	G	A	203054910	2	1	205	1	0	0	0	0	0	0	0	1	10092	1020	36	2		2	MYOG	1	203054910	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	770926	203054910	46195711	40	16561											
ETNK2	55224	genome.wustl.edu	37	chr1	204115825	204115825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgcatcttgtgccagaGgatgggcttgggcaggctgc	16	8	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:204115825G>A	ENST00000367202.4	-	3	736	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	ETNK2_ENST00000367201.3_Missense_Mutation_p.L196F|ETNK2_ENST00000367198.2_Missense_Mutation_p.L18F|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	196					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTGCCAGAGGATGGGCTTG	0.493																																																	0								ENSG00000143845						181	154	163					1																	204115825		2203	4300	6503	ETNK2	SO:0001583	missense	0			-	HGNC	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.586C>T	1.37:g.204115825G>A	ENSP00000356170:p.Leu196Phe	Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP							pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.L196F	ENST00000367202.4	37	c.586	CCDS1442.2	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885259	0.91814	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.34	5.34	0.76211	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.124581	0.56097	D	0.000030	T	0.78799	0.4340	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.984	T	0.81378	-0.0960	10	0.66056	D	0.02	-13.2836	16.9799	0.86324	0.0:0.0:1.0:0.0	.	196;196	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	F	196;196;62;18;62;53	ENSP00000356169:L196F;ENSP00000356170:L196F;ENSP00000356166:L18F;ENSP00000405497:L62F;ENSP00000398091:L53F	ENSP00000356166:L18F	L	-	1	0	ETNK2	202382448	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	6.727000	0.74764	2.781000	0.95711	0.655000	0.94253	CTC	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.493	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	protein_coding	OTTHUMT00000087893.1	G	NM_018208	-		204115825	-1	no_errors	ENST00000367201	ensembl	human	known	74_37	missense	SNP	0.999	A	A	204115825	G	A	204115825	3	1	205	1	0	0	0	0	1	0	0	0	5276	1000	35	2	598	2	ETNK2	1	204115825	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1060915	204115825	45134796	41	16562											
SLC26A9	115019	genome.wustl.edu	37	chr1	205897105	205897105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgatgacgtagctcacGatggctagggagaaggctgt	16	6	1	3	rs530666216		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:205897105G>A	ENST00000367135.3	-	9	1139	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SLC26A9_ENST00000367134.2_Silent_p.I342I|SLC26A9_ENST00000340781.4_Silent_p.I342I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	342					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGTAGCTCACGATGGCTAGGG	0.622													G|||	1	0.000199681	0	0	5008	,	,		20760	0.001		0	False		,,,				2504	0																0								ENSG00000174502						91	77	82					1																	205897105		2203	4300	6503	SLC26A9	SO:0001819	synonymous_variant	0			-	HGNC	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1026C>T	1.37:g.205897105G>A		Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I342	ENST00000367135.3	37	c.1026	CCDS30990.1	1																																																																																			-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.622	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	protein_coding	OTTHUMT00000087742.1	G	NM_052934	-		205897105	-1	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	SNP	0.873	A	A	205897105	G	A	205897105	2	1	205	1	0	0	0	0	0	0	0	1	14532	1048	37	1		1	SLC26A9	1	205897105	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1781280	205897105	43353516	42	16563											
IRF6	3664	genome.wustl.edu	37	chr1	209961786	209961786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggggaggcagggcaggGggcagttgcatgctgggggt	22	6	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:209961786G>A	ENST00000367021.3	-	9	1555	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Silent_p.P366P	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	461					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCAGGGCAGGGGGCAGTTGCA	0.468										HNSCC(57;0.16)																																							0								ENSG00000117595						57	61	60					1																	209961786		2203	4300	6503	IRF6	SO:0001819	synonymous_variant	0			-	HGNC	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1383C>T	1.37:g.209961786G>A		Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	79	29.46	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP							pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.P461	ENST00000367021.3	37	c.1383	CCDS1492.1	1																																																																																			-	NULL		0.468	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	protein_coding	OTTHUMT00000088827.1	G	NM_006147	-		209961786	-1	no_errors	ENST00000367021	ensembl	human	known	74_37	silent	SNP	0.061	A	A	209961786	G	A	209961786	2	1	205	1	0	0	0	0	0	0	0	1	7836	1219	43	2		2	IRF6	1	209961786	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4064681	209961786	39288835	43	16564											
IRF6	3664	genome.wustl.edu	37	chr1	209961873	209961873	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgcttcagctgagcaacGatgttatccttgatgtctgg	11	9	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:209961873G>A	ENST00000367021.3	-	9	1468	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Silent_p.I337I	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	432					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557										HNSCC(57;0.16)																																							0								ENSG00000117595						98	88	92					1																	209961873		2203	4300	6503	IRF6	SO:0001819	synonymous_variant	0			-	HGNC	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1296C>T	1.37:g.209961873G>A		Somatic	0	67	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	81	17.35	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Silent	SNP							pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.I432	ENST00000367021.3	37	c.1296	CCDS1492.1	1																																																																																			-	superfamily_SMAD_FHA_domain		0.557	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	protein_coding	OTTHUMT00000088827.1	G	NM_006147	-		209961873	-1	no_errors	ENST00000367021	ensembl	human	known	74_37	silent	SNP	0.134	A	A	209961873	G	A	209961873	2	1	205	1	0	0	0	0	0	0	0	1	7836	1048	37	1		1	IRF6	1	209961873	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	87	209961873	39288748	44	16565											
SPATA17	128153	genome.wustl.edu	37	chr1	217955540	217955540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccgagatatcaccgaaGtattagaacaacgctacagg	8	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:217955540G>A	ENST00000366933.4	+	8	803	c.748G>A	c.(748-750)Gta>Ata	p.V250I	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	250						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TATCACCGAAGTATTAGAACA	0.458																																																	0								ENSG00000162814						82	85	84					1																	217955540		2203	4300	6503	SPATA17	SO:0001583	missense	0			-	HGNC	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.748G>A	1.37:g.217955540G>A	ENSP00000355900:p.Val250Ile	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	38	24.00	A5D6N2	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.V250I	ENST00000366933.4	37	c.748	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.431637	0.96150	.	.	ENSG00000162814	ENST00000366933	T	0.60797	0.16	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000002	T	0.77598	0.4154	M	0.81942	2.565	0.43103	D	0.994798	D	0.89917	1.0	D	0.73708	0.981	T	0.82063	-0.0643	10	0.87932	D	0	0.6466	18.0694	0.89400	0.0:0.0:1.0:0.0	.	250	Q96L03	SPT17_HUMAN	I	250	ENSP00000355900:V250I	ENSP00000355900:V250I	V	+	1	0	SPATA17	216022163	1.000000	0.71417	0.097000	0.21041	0.655000	0.38815	7.784000	0.85713	2.346000	0.79739	0.650000	0.86243	GTA	-	NULL		0.458	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	protein_coding	OTTHUMT00000092433.2	G	NM_138796	-		217955540	1	no_errors	ENST00000366933	ensembl	human	known	74_37	missense	SNP	1.000	A	A	217955540	G	A	217955540	3	1	205	1	0	0	0	0	1	0	0	0	15009	1029	36	2	778	2	SPATA17	1	217955540	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7993667	217955540	31295081	45	16566											
OBSCN	84033	genome.wustl.edu	37	chr1	228547866	228547866	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggaggagggcaccatgGaggaggcgggagaggaagag	23	4	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:228547866G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366709.4_Missense_Mutation_p.E3544K|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.E6425K|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				GGGCACCATGGAGGAGGCGGG	0.642																																																	0								ENSG00000154358						43	54	50					1																	228547866		2162	4269	6431	OBSCN	SO:0001627	intron_variant	0			-	HGNC	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.18662-2411G>A	1.37:g.228547866G>A		Somatic	0	22	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain	p.E3544K	ENST00000422127.1	37	c.10630	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733217	0.30684	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.56444	0.46;0.61	4.1	3.19	0.36642	.	.	.	.	.	T	0.31702	0.0805	N	0.21448	0.665	0.09310	N	1	P	0.38335	0.627	B	0.34652	0.187	T	0.09037	-1.0693	9	0.07813	T	0.8	.	9.1993	0.37249	0.0856:0.2191:0.6952:0.0	.	6425	Q5VST9-3	.	K	6425;3544	ENSP00000284548:E6425K;ENSP00000355670:E3544K	ENSP00000284548:E6425K	E	+	1	0	OBSCN	226614489	0.001000	0.12720	0.046000	0.18839	0.056000	0.15407	0.678000	0.25277	0.945000	0.37605	0.411000	0.27672	GAG	-	NULL		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228547866	1	no_errors	ENST00000366709	ensembl	human	known	74_37	missense	SNP	0.012	A	A	228547866	G	A	228547866	1	1	205	0	1	0	0	0	0	0	0	0	10814	1175	41	2		2	OBSCN	1	228547866	Intron	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	10592326	228547866	20702755	46	16567											
RAB4A	5867	genome.wustl.edu	37	chr1	229422292	229422292	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggcaaatcttgcttacttCatcagtttattgaaaaaaaa	5	7	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:229422292C>T	ENST00000366690.4	+	2	299	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	RAB4A_ENST00000473894.1_Intron	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	31					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TTGCTTACTTCATCAGTTTAT	0.323																																					Esophageal Squamous(11;250 603 9619 16563)												0								ENSG00000168118						94	92	92					1																	229422292		2202	4300	6502	RAB4A	SO:0001583	missense	0			-	HGNC	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.91C>T	1.37:g.229422292C>T	ENSP00000355651:p.His31Tyr	Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	62	12.68	Q5T7P7|Q9BQ44	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H31Y	ENST00000366690.4	37	c.91	CCDS31050.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344568	0.61073	.	.	ENSG00000168118	ENST00000366690	T	0.79352	-1.26	5.24	5.24	0.73138	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.31476	0.935	0.80722	D	1	B	0.25743	0.133	B	0.36378	0.223	T	0.69072	-0.5242	10	0.38643	T	0.18	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	26	P20338	RAB4A_HUMAN	Y	31	ENSP00000355651:H31Y	ENSP00000355651:H31Y	H	+	1	0	RAB4A	227488915	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.062000	0.76706	2.884000	0.98904	0.655000	0.94253	CAT	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.323	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4A	protein_coding	OTTHUMT00000091727.3	C	NM_004578	-		229422292	1	no_errors	ENST00000366690	ensembl	human	known	74_37	missense	SNP	1.000	T	T	229422292	C	T	229422292	3	4	205	1	0	0	0	0	1	0	0	0	12954	826	29	2	97	2	RAB4A	1	229422292	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	874426	229422292	19828329	47	16568											
NID1	4811	genome.wustl.edu	37	chr1	236201485	236201485	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtggcgtagtccctgcactCtgcgtgcaccgagcactggt	13	14	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:236201485C>T	ENST00000264187.6	-	5	1286	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	NID1_ENST00000366595.3_Missense_Mutation_p.E402K	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	402	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TCCCTGCACTCTGCGTGCACC	0.517																																																	0								ENSG00000116962						124	115	118					1																	236201485		2203	4300	6503	NID1	SO:0001583	missense	0			-	HGNC	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1204G>A	1.37:g.236201485C>T	ENSP00000264187:p.Glu402Lys	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP							pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E402K	ENST00000264187.6	37	c.1204	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025600	0.54683	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.87103	-2.21;-2.21	5.52	4.58	0.56647	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.316268	0.38837	N	0.001556	T	0.69214	0.3086	N	0.16833	0.445	0.28472	N	0.91539	B;P	0.42871	0.444;0.792	B;B	0.31614	0.044;0.133	T	0.64411	-0.6414	10	0.29301	T	0.29	.	5.5286	0.16972	0.1446:0.635:0.1402:0.0801	.	402;402	P14543-2;P14543	.;NID1_HUMAN	K	402	ENSP00000264187:E402K;ENSP00000355554:E402K	ENSP00000264187:E402K	E	-	1	0	NID1	234268108	0.911000	0.30947	0.951000	0.38953	0.963000	0.63663	1.835000	0.39181	2.602000	0.87976	0.650000	0.86243	GAG	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.517	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	protein_coding	OTTHUMT00000096647.2	C	NM_002508	-		236201485	-1	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	SNP	0.951	T	T	236201485	C	T	236201485	3	4	205	1	0	0	0	0	1	0	0	0	10416	922	32	2	2603	2	NID1	1	236201485	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6779193	236201485	13049136	48	16569											
OR2L13	284521	genome.wustl.edu	37	chr1	248263537	248263537	+	Frame_Shift_Del	DEL	T	T	-													tacccccatgctcaatcccaTtatctacagcctgaggaata							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr1:248263537delT	ENST00000358120.2	+	2	1005	c.860delT	c.(859-861)attfs	p.I288fs	OR2L13_ENST00000366478.2_Frame_Shift_Del_p.I288fs			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTCAATCCCATTATCTACAGC	0.493																																																	0								ENSG00000196071						68	70	69					1																	248263537		2203	4300	6503	OR2L13	SO:0001589	frameshift_variant	0				HGNC	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.860delT	1.37:g.248263537delT	ENSP00000350836:p.Ile288fs	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	70	12.50	Q5VUR5	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I288fs	ENST00000358120.2	37	c.860	CCDS1637.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.493	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	protein_coding	OTTHUMT00000097342.1	T	NM_175911			248263537	1	no_errors	ENST00000358120	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	248263537	T	-	248263537	7	5	205	1	0	1	0	1	0	0	0	0	11008	1493	52	0	862	0	OR2L13	1	248263537	Frame_Shift_Del	DEL	T	TCGA-QQ-A8VG-01A-11D-A37C-09	12062052	248263537	987084	49	16570											
OTOF	9381	genome.wustl.edu	37	chr2	26687736	26687736	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatccagtgccccattaCcgttctcgtcctcaatctca	5	17	3	0	rs80356602		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:26687736C>T	ENST00000272371.2	-	39	5087		c.e39+1		OTOF_ENST00000402415.3_Splice_Site|OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000339598.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCCATTACCGTTCTCGTC	0.647																																					GBM(102;732 1451 20652 24062 31372)												0								ENSG00000115155						47	53	51					2																	26687736		2203	4300	6503	OTOF	SO:0001630	splice_region_variant	0			-	HGNC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4960+1G>A	2.37:g.26687736C>T		Somatic	0	90	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	125	17.76	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Splice_Site	SNP							-	e39+1	ENST00000272371.2	37	c.4960+1	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717636	0.48622	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7125	0.88326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OTOF	26541240	1.000000	0.71417	0.997000	0.53966	0.267000	0.26476	7.818000	0.86416	2.260000	0.74910	0.561000	0.74099	.	-	-		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	C		-	Intron	26687736	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	26687736	C	T	26687736	5	4	205	1	0	0	0	0	0	0	1	0	11305	521	18	2	1249	2	OTOF	2	26687736	Splice_Site	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		26687736	216511637	50	16571											
CAPN13	92291	genome.wustl.edu	37	chr2	30976012	30976012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccagggtaattggaatttCgctacatataaacatggcga	10	7	0	0	rs373913163		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:30976012C>T	ENST00000295055.8	-	10	1170	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E332K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	332	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTGGAATTTCGCTACATATA	0.423																																																	0								ENSG00000162949						238	217	224					2																	30976012		1914	4117	6031	CAPN13	SO:0001583	missense	0			-	HGNC		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.994G>A	2.37:g.30976012C>T	ENSP00000295055:p.Glu332Lys	Somatic	0	78	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	89	16.67	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E332K	ENST00000295055.8	37	c.994	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389080	0.11581	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.15603	2.41;2.41	5.27	3.36	0.38483	Peptidase C2, calpain, catalytic domain (2);	0.294464	0.24766	N	0.035775	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B	0.29270	0.24	B	0.25506	0.061	T	0.22695	-1.0209	10	0.62326	D	0.03	.	11.4637	0.50225	0.0:0.3567:0.6433:0.0	.	332	Q6MZZ7	CAN13_HUMAN	K	332	ENSP00000295055:E332K;ENSP00000431298:E332K	ENSP00000295055:E332K	E	-	1	0	CAPN13	30829516	0.888000	0.30383	0.411000	0.26484	0.114000	0.19823	0.525000	0.22956	1.227000	0.43598	-0.234000	0.12200	GAA	-	smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.423	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	protein_coding	OTTHUMT00000325101.2	C	NM_144575	-		30976012	-1	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	SNP	0.222	T	T	30976012	C	T	30976012	3	4	205	1	0	0	0	0	1	0	0	0	2628	893	31	1	1067	1	CAPN13	2	30976012	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	4288276	30976012	212223361	51	16572											
SPTBN1	6711	genome.wustl.edu	37	chr2	54839468	54839468	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaccatcatcctgcgcttCcaggtaagggtctctgccca	10	14	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:54839468C>T	ENST00000356805.4	+	4	752	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SPTBN1_ENST00000333896.5_Silent_p.F144F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	157	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTGCGCTTCCAGGTAAGGG	0.557																																																	0								ENSG00000115306						102	93	96					2																	54839468		2203	4300	6503	SPTBN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.471C>T	2.37:g.54839468C>T		Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	62	8.82	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.F157	ENST00000356805.4	37	c.471	CCDS33198.1	2																																																																																			-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain		0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	protein_coding	OTTHUMT00000258115.3	C		-		54839468	1	no_errors	ENST00000356805	ensembl	human	known	74_37	silent	SNP	1.000	T	T	54839468	C	T	54839468	2	4	205	1	0	0	0	0	0	0	0	1	15126	854	30	2		2	SPTBN1	2	54839468	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	23863456	54839468	188359905	52	16573											
AAK1	22848	genome.wustl.edu	37	chr2	69746219	69746219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggcctgggcctgaGcgggcagaccctgggcctga	20	11	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:69746219G>A	ENST00000409085.4	-	12	1740	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	AAK1_ENST00000409068.1_Missense_Mutation_p.A455V|SNORA36C_ENST00000384289.1_RNA|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000406297.3_Missense_Mutation_p.A455V	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	455	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTGGGCCTGAGCGGGCAGACC	0.672																																																	0								ENSG00000115977						36	42	40					2																	69746219		2118	4205	6323	AAK1	SO:0001583	missense	0			-	HGNC	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1364C>T	2.37:g.69746219G>A	ENSP00000386456:p.Ala455Val	Somatic	0	94	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	131	16.56	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A455V	ENST00000409085.4	37	c.1364	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355526	0.41700	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.30981	1.51;1.51;1.51	4.57	4.57	0.56435	.	2.171060	0.01614	N	0.022678	T	0.25195	0.0612	N	0.12182	0.205	0.23848	N	0.996674	B;B;B	0.13594	0.005;0.008;0.005	B;B;B	0.18561	0.01;0.022;0.01	T	0.16958	-1.0385	10	0.30078	T	0.28	0.0638	14.2027	0.65714	0.0:0.0:1.0:0.0	.	455;455;455	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	V	455	ENSP00000386342:A455V;ENSP00000386456:A455V;ENSP00000385181:A455V	ENSP00000385181:A455V	A	-	2	0	AAK1	69599723	0.877000	0.30153	0.472000	0.27241	0.757000	0.42996	3.804000	0.55568	2.364000	0.80123	0.655000	0.94253	GCT	-	NULL		0.672	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	protein_coding	OTTHUMT00000251847.4	G	NM_014911	-		69746219	-1	no_errors	ENST00000409085	ensembl	human	known	74_37	missense	SNP	0.736	A	A	69746219	G	A	69746219	3	1	205	1	0	0	0	0	1	0	0	0	16	971	34	2	1565	2	AAK1	2	69746219	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	14906751	69746219	173453154	53	16574											
ACTG2	72	genome.wustl.edu	37	chr2	74146599	74146599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtactcagtctggatcgGgggctctatcctggcctctc	12	12	4	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:74146599G>A	ENST00000409624.1	+	10	1671	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E	ACTG2_ENST00000345517.3_Missense_Mutation_p.G343E|ACTG2_ENST00000409731.3_Missense_Mutation_p.G300E			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	343					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GTCTGGATCGGGGGCTCTATC	0.532																																																	0								ENSG00000163017						81	84	83					2																	74146599		2203	4300	6503	ACTG2	SO:0001583	missense	0			-	HGNC		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1028G>A	2.37:g.74146599G>A	ENSP00000386857:p.Gly343Glu	Somatic	0	61	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.29	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.G343E	ENST00000409624.1	37	c.1028	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265937	0.59540	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.99906	-7.75;-7.75;-7.75	4.95	4.06	0.47325	.	0.374825	0.20808	N	0.085303	D	0.99951	0.9979	H	0.99962	5.075	0.46028	D	0.998824	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96102	0.9070	10	0.87932	D	0	.	13.9034	0.63819	0.0:0.0:0.846:0.154	.	300;343	E9PG30;P63267	.;ACTH_HUMAN	E	300;343;343	ENSP00000386929:G300E;ENSP00000295137:G343E;ENSP00000386857:G343E	ENSP00000295137:G343E	G	+	2	0	ACTG2	74000107	1.000000	0.71417	0.881000	0.34555	0.944000	0.59088	9.601000	0.98297	1.421000	0.47157	0.591000	0.81541	GGG	-	pfam_Actin-related,smart_Actin-related		0.532	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	protein_coding	OTTHUMT00000328086.1	G	NM_001615	-		74146599	1	no_errors	ENST00000345517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	74146599	G	A	74146599	3	1	205	1	0	0	0	0	1	0	0	0	197	1232	43	2	1058	2	ACTG2	2	74146599	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4400380	74146599	169052774	54	16575											
REG3G	130120	genome.wustl.edu	37	chr2	79254218	79254218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgctcagtggggctgaggGatccttcgtgtcctccctgg	15	11	1	1	rs557732692	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:79254218G>A	ENST00000272324.5	+	4	438	c.254G>A	c.(253-255)gGa>gAa	p.G85E	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.G85E	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	85	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGCTGAGGGATCCTTCGTG	0.552																																																	0								ENSG00000143954						168	154	159					2																	79254218		2203	4300	6503	REG3G	SO:0001583	missense	0			-	HGNC	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.254G>A	2.37:g.79254218G>A	ENSP00000272324:p.Gly85Glu	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G85E	ENST00000272324.5	37	c.254	CCDS1962.1	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353226	0.41700	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.17854	2.25;2.25	4.83	-1.65	0.08291	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.563830	0.15977	N	0.235475	T	0.17365	0.0417	N	0.16478	0.41	0.22096	N	0.999362	B	0.22480	0.07	P	0.49477	0.612	T	0.54043	-0.8352	10	0.24483	T	0.36	.	7.2685	0.26244	0.1096:0.1863:0.6173:0.0869	.	85	Q6UW15	REG3G_HUMAN	E	85	ENSP00000377475:G85E;ENSP00000272324:G85E	ENSP00000272324:G85E	G	+	2	0	REG3G	79107726	0.005000	0.15991	0.050000	0.19076	0.543000	0.35085	-0.653000	0.05360	-0.189000	0.10482	0.655000	0.94253	GGA	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	protein_coding	OTTHUMT00000328247.1	G	NM_198448	-		79254218	1	no_errors	ENST00000272324	ensembl	human	known	74_37	missense	SNP	0.040	A	A	79254218	G	A	79254218	3	1	205	1	0	0	0	0	1	0	0	0	13221	1174	41	2	264	2	REG3G	2	79254218	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5107619	79254218	163945155	55	16576											
REG3A	5068	genome.wustl.edu	37	chr2	79385793	79385793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacatctgcatctgtccagGattttggtgacaaaaacaag	8	9	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:79385793G>A	ENST00000409839.3	-	3	215	c.179C>T	c.(178-180)tCc>tTc	p.S60F	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.S60F|REG3A_ENST00000305165.2_Missense_Mutation_p.S60F	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	60	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATCTGTCCAGGATTTTGGTGA	0.552																																																	0								ENSG00000172016						129	117	121					2																	79385793		2203	4300	6503	REG3A	SO:0001583	missense	0			-	HGNC	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.179C>T	2.37:g.79385793G>A	ENSP00000386630:p.Ser60Phe	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S60F	ENST00000409839.3	37	c.179	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120115	0.37436	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.22539	1.95;1.95;1.95	4.02	1.15	0.20763	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.385935	0.22627	N	0.057623	T	0.46367	0.1389	M	0.93507	3.425	0.09310	N	1	D	0.60160	0.987	D	0.68192	0.956	T	0.37079	-0.9721	10	0.87932	D	0	.	2.624	0.04924	0.1046:0.1861:0.5173:0.192	.	60	Q06141	REG3A_HUMAN	F	60	ENSP00000386630:S60F;ENSP00000377456:S60F;ENSP00000304311:S60F	ENSP00000304311:S60F	S	-	2	0	REG3A	79239301	0.134000	0.22483	0.045000	0.18777	0.001000	0.01503	0.272000	0.18644	0.241000	0.21283	-0.249000	0.11873	TCC	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	protein_coding	OTTHUMT00000252290.2	G	NM_002580	-		79385793	-1	no_errors	ENST00000305165	ensembl	human	known	74_37	missense	SNP	0.051	A	A	79385793	G	A	79385793	3	1	205	1	0	0	0	0	1	0	0	0	13220	1174	41	2	364	2	REG3A	2	79385793	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	131575	79385793	163813580	56	16577											
DNAH6	1768	genome.wustl.edu	37	chr2	84784863	84784863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctctttaacaggatgGtattttgggtgcagttaatc	9	6	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:84784863G>A	ENST00000237449.6	+	10	1615	c.1607G>A	c.(1606-1608)gGt>gAt	p.G536D	DNAH6_ENST00000398278.2_Missense_Mutation_p.G536D|DNAH6_ENST00000389394.3_Missense_Mutation_p.G536D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	536	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G536V(1)|p.G115V(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAACAGGATGGTATTTTGGGT	0.313																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000115423						137	129	131					2																	84784863		2203	4300	6503	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1607G>A	2.37:g.84784863G>A	ENSP00000237449:p.Gly536Asp	Somatic	0	60	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	83	15.31	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G536D	ENST00000237449.6	37	c.1607	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	0.764	-0.768110	0.02974	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24151	1.87;1.99;1.87	5.22	4.35	0.52113	.	0.117524	0.38217	N	0.001772	T	0.30603	0.0770	M	0.67953	2.075	0.29694	N	0.840672	B;P	0.47910	0.079;0.902	B;P	0.46718	0.065;0.525	T	0.21245	-1.0251	10	0.34782	T	0.22	.	7.9736	0.30143	0.0813:0.0:0.7573:0.1614	.	536;115	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	D	536	ENSP00000374045:G536D;ENSP00000381326:G536D;ENSP00000237449:G536D	ENSP00000237449:G536D	G	+	2	0	DNAH6	84638374	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	2.164000	0.42387	1.210000	0.43336	-0.122000	0.15005	GGT	-	NULL		0.313	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	G	NM_001370	-		84784863	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84784863	G	A	84784863	3	1	205	1	0	0	0	0	1	0	0	0	4607	1261	44	2	1645	2	DNAH6	2	84784863	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5399070	84784863	158414510	57	16578											
SH2D6	284948	genome.wustl.edu	37	chr2	85662200	85662200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttctagaaggaaggaaatCgtctcttccctctgtagccc	8	12	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:85662200C>T	ENST00000340326.2	+	1	283	c.122C>T	c.(121-123)tCg>tTg	p.S41L	SH2D6_ENST00000481426.2_3'UTR|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.S37L	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	41										central_nervous_system(1)|lung(2)	3						GGAAGGAAATCGTCTCTTCCC	0.627																																																	0								ENSG00000152292						27	27	27					2																	85662200		2202	4300	6502	SH2D6	SO:0001583	missense	0			-	HGNC	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.122C>T	2.37:g.85662200C>T	ENSP00000341867:p.Ser41Leu	Somatic	0	74	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	70	19.10	A6ND14|Q6R306	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2	p.S41L	ENST00000340326.2	37	c.122	CCDS1976.1	2	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140376	0.01728	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	T	0.78364	-1.17	3.36	-1.37	0.09056	.	4.273530	0.00792	N	0.001341	T	0.53433	0.1796	N	0.03050	-0.425	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47355	-0.9124	10	0.15499	T	0.54	0.5663	7.2111	0.25935	0.0:0.5296:0.0:0.4704	.	41	Q7Z4S9	SH2D6_HUMAN	L	37;41	ENSP00000341867:S41L	ENSP00000341867:S41L	S	+	2	0	SH2D6	85515711	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.156000	0.10100	-0.311000	0.08754	-0.463000	0.05309	TCG	-	NULL		0.627	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D6	protein_coding	OTTHUMT00000252493.2	C	NM_198482	-		85662200	1	no_errors	ENST00000340326	ensembl	human	known	74_37	missense	SNP	0.000	T	T	85662200	C	T	85662200	3	4	205	1	0	0	0	0	1	0	0	0	14246	893	31	1	124	1	SH2D6	2	85662200	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	877337	85662200	157537173	58	16579											
SMYD1	150572	genome.wustl.edu	37	chr2	88409874	88409874	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtatctgtgtcccacaggCcatgcgggtgcagacggaga	15	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:88409874C>T	ENST00000419482.2	+	10	1401	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	SMYD1_ENST00000444564.2_Splice_Site_p.A426V|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	439					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTCCCACAGGCCATGCGGGTG	0.527																																																	0								ENSG00000115593						69	54	59					2																	88409874		2203	4300	6503	SMYD1	SO:0001630	splice_region_variant	0			-	HGNC	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1315-1C>T	2.37:g.88409874C>T		Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	A0AV30|A6NE13	Missense_Mutation	SNP							pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.A439V	ENST00000419482.2	37	c.1316	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345867	0.41599	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.23950	1.88;1.89	5.13	3.25	0.37280	.	0.222920	0.45606	D	0.000345	T	0.14270	0.0345	N	0.22421	0.69	0.80722	D	1	B	0.16166	0.016	B	0.11329	0.006	T	0.10177	-1.0641	10	0.29301	T	0.29	.	5.487	0.16755	0.0:0.4949:0.3461:0.159	.	439	Q8NB12	SMYD1_HUMAN	V	439;426;260	ENSP00000393453:A439V;ENSP00000407888:A426V	ENSP00000295833:A260V	A	+	2	0	SMYD1	88190989	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.005000	0.49521	0.505000	0.28104	0.655000	0.94253	GCC	-	NULL		0.527	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	protein_coding	OTTHUMT00000338229.2	C	XM_097915	-	Missense_Mutation	88409874	1	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88409874	C	T	88409874	5	4	205	1	0	0	0	0	0	0	1	0	14829	753	26	2	1354	2	SMYD1	2	88409874	Splice_Site	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2747674	88409874	154789499	59	16580											
ASTL	431705	genome.wustl.edu	37	chr2	96799753	96799753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgacaccactaccaccCatgggccatttgttgctggt	8	15	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:96799753C>T	ENST00000342380.2	-	4	287	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACTACCACCCATGGGCCATT	0.602																																																	0								ENSG00000188886						140	93	109					2																	96799753		2203	4300	6503	ASTL	SO:0001583	missense	0			-	HGNC	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.288G>A	2.37:g.96799753C>T	ENSP00000343674:p.Met96Ile	Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	36	36.84		Missense_Mutation	SNP							pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.M96I	ENST00000342380.2	37	c.288	CCDS33249.1	2	.	.	.	.	.	.	.	.	.	.	C	5.492	0.275777	0.10403	.	.	ENSG00000188886	ENST00000342380	T	0.62788	0.0	2.62	1.73	0.24493	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.591385	0.14014	N	0.347247	T	0.30230	0.0758	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	10	0.72032	D	0.01	-9.2287	5.2841	0.15692	0.0:0.8372:0.0:0.1628	.	96	Q6HA08	ASTL_HUMAN	I	96	ENSP00000343674:M96I	ENSP00000343674:M96I	M	-	3	0	ASTL	96163480	0.912000	0.30974	0.249000	0.24280	0.049000	0.14656	2.011000	0.40922	0.660000	0.30964	0.644000	0.83932	ATG	-	smart_Peptidase_Metallo		0.602	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	protein_coding	OTTHUMT00000338801.1	C		-		96799753	-1	no_errors	ENST00000342380	ensembl	human	known	74_37	missense	SNP	0.341	T	T	96799753	C	T	96799753	3	4	205	1	0	0	0	0	1	0	0	0	1063	594	21	2	1030	2	ASTL	2	96799753	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	8389879	96799753	146399620	60	16581											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107460171	107460171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaggccccgcatgaaagGaaccggctgggtgggcgcgg	17	13	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:107460171G>A	ENST00000409382.3	-	2	873	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S88F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S88F|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	88					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCATGAAAGGAACCGGCTGG	0.632																																																	0								ENSG00000144057						27	33	31					2																	107460171		2167	4258	6425	ST6GAL2	SO:0001583	missense	0			-	HGNC	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.263C>T	2.37:g.107460171G>A	ENSP00000386942:p.Ser88Phe	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	64	17.95	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP							pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.S88F	ENST00000409382.3	37	c.263	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936928	0.52972	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.34275	2.39;2.39;1.37	5.24	3.38	0.38709	.	1.240020	0.05282	N	0.519507	T	0.33644	0.0870	L	0.27053	0.805	0.09310	N	1	P;P	0.48503	0.911;0.641	P;B	0.44946	0.465;0.135	T	0.28713	-1.0035	10	0.54805	T	0.06	-5.564	9.5743	0.39447	0.0784:0.1435:0.7781:0.0	.	88;88	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	F	88	ENSP00000355273:S88F;ENSP00000386942:S88F;ENSP00000387332:S88F	ENSP00000355273:S88F	S	-	2	0	ST6GAL2	106826603	0.498000	0.26075	0.001000	0.08648	0.002000	0.02628	4.308000	0.59129	0.543000	0.28864	0.563000	0.77884	TCC	-	NULL		0.632	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	protein_coding	OTTHUMT00000330065.1	G	NM_032528	-		107460171	-1	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	SNP	0.003	A	A	107460171	G	A	107460171	3	1	205	1	0	0	0	0	1	0	0	0	15229	1174	41	2	1433	2	ST6GAL2	2	107460171	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	10660418	107460171	135739202	61	16582											
C2orf76	130355	genome.wustl.edu	37	chr2	120097419	120097419	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataccttgctttagaaatacGataaattcctttacagtttg	5	7	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:120097419G>A	ENST00000409466.2	-	3	638	c.117C>T	c.(115-117)atC>atT	p.I39I	C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000334816.7_Silent_p.I39I|C2orf76_ENST00000409877.1_Silent_p.I39I|C2orf76_ENST00000409523.1_Silent_p.I39I			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	39										large_intestine(1)|lung(3)|pancreas(1)	5						TTAGAAATACGATAAATTCCT	0.338																																																	0								ENSG00000186132						104	96	99					2																	120097419		1839	4107	5946	C2orf76	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.117C>T	2.37:g.120097419G>A		Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	B7ZLS8|Q4VC35	Silent	SNP							pfam_UPF0538	p.I39	ENST00000409466.2	37	c.117	CCDS42739.1	2																																																																																			-	pfam_UPF0538		0.338	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf76	protein_coding	OTTHUMT00000330582.2	G	NM_001017927	-		120097419	-1	no_errors	ENST00000334816	ensembl	human	known	74_37	silent	SNP	0.997	A	A	120097419	G	A	120097419	2	1	205	1	0	0	0	0	0	0	0	1	2195	1048	37	1		1	C2orf76	2	120097419	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	12637248	120097419	123101954	62	16583											
MYO7B	4648	genome.wustl.edu	37	chr2	128341770	128341770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagcacgtgttcaccatgGagcaagaggagtaccgctcg	13	11	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:128341770G>A	ENST00000409816.2	+	12	1449	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	MYO7B_ENST00000389524.4_Missense_Mutation_p.E473K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E473K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	473	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTTCACCATGGAGCAAGAGGA	0.582																																																	0								ENSG00000169994						78	84	82					2																	128341770		2201	4300	6501	MYO7B	SO:0001583	missense	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1417G>A	2.37:g.128341770G>A	ENSP00000386461:p.Glu473Lys	Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	Q14786|Q8TEE1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E473K	ENST00000409816.2	37	c.1417	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.571173	0.96553	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.91996	-2.95;-2.95;-2.95	4.7	4.7	0.59300	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99357	1.0916	10	0.87932	D	0	.	18.1758	0.89761	0.0:0.0:1.0:0.0	.	473	Q6PIF6	MYO7B_HUMAN	K	473	ENSP00000374175:E473K;ENSP00000415090:E473K;ENSP00000386461:E473K	ENSP00000374175:E473K	E	+	1	0	MYO7B	128058240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.531000	0.98054	2.603000	0.88011	0.655000	0.94253	GAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.582	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	G	XM_291001	-		128341770	1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128341770	G	A	128341770	3	1	205	1	0	0	0	0	1	0	0	0	10085	1175	41	2	1463	2	MYO7B	2	128341770	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	8244351	128341770	114857603	63	16584											
ZRANB3	84083	genome.wustl.edu	37	chr2	135975070	135975070	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtttggtttgttgctttgtGatctcttccaaagcaagaat	9	6	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:135975070G>A	ENST00000264159.6	-	17	2576	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.I818I|ZRANB3_ENST00000401392.1_Silent_p.I818I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	820					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTTGCTTTGTGATCTCTTCCA	0.363																																																	0								ENSG00000121988						125	113	117					2																	135975070		1836	4084	5920	ZRANB3	SO:0001819	synonymous_variant	0			-	HGNC	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2460C>T	2.37:g.135975070G>A		Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	75	12.79	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I820	ENST00000264159.6	37	c.2460	CCDS46419.1	2																																																																																			-	NULL		0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	protein_coding	OTTHUMT00000318254.1	G	NM_032143	-		135975070	-1	no_errors	ENST00000264159	ensembl	human	known	74_37	silent	SNP	0.942	A	A	135975070	G	A	135975070	2	1	205	1	0	0	0	0	0	0	0	1	18231	1280	45	2		2	ZRANB3	2	135975070	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7633300	135975070	107224303	64	16585											
LRP1B	53353	genome.wustl.edu	37	chr2	141359181	141359181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatcccaggctctgtgaTaggcaagtccttccacagaa	10	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:141359181T>C	ENST00000389484.3	-	42	7798	c.6827A>G	c.(6826-6828)tAt>tGt	p.Y2276C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2276					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)		GGCTCTGTGATAGGCAAGTCC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						115	101	106					2																	141359181		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.6827A>G	2.37:g.141359181T>C	ENSP00000374135:p.Tyr2276Cys	Somatic	0	54	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	55	25.68	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.Y2276C	ENST00000389484.3	37	c.6827	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475032	0.84640	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91407	-2.84	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000002	D	0.95364	0.8495	M	0.82193	2.58	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95953	0.8956	10	0.72032	D	0.01	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2276	Q9NZR2	LRP1B_HUMAN	C	2276;2214	ENSP00000374135:Y2276C	ENSP00000374135:Y2276C	Y	-	2	0	LRP1B	141075651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.949000	0.87791	2.015000	0.59207	0.459000	0.35465	TAT	-	smart_LDLR_classB_rpt		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	T	NM_018557	-		141359181	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141359181	T	C	141359181	3	2	205	1	0	0	0	0	1	0	0	0	8957	1406	49	5	7172	5	LRP1B	2	141359181	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	5384111	141359181	101840192	65	16586											
SLC38A11	151258	genome.wustl.edu	37	chr2	165802202	165802202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtatctgttccagagaGggcccctccttttatcaata	9	10	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:165802202G>A	ENST00000409149.3	-	3	388	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	SLC38A11_ENST00000303735.4_Missense_Mutation_p.L33F|SLC38A11_ENST00000409058.1_Missense_Mutation_p.L64F|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L33F	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	33					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GTTCCAGAGAGGGCCCCTCCT	0.363																																																	0								ENSG00000169507						91	99	96					2																	165802202		2203	4300	6503	SLC38A11	SO:0001583	missense	0			-	HGNC		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.97C>T	2.37:g.165802202G>A	ENSP00000386272:p.Leu33Phe	Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	64	17.95	B4DF99|Q8N887	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.L33F	ENST00000409149.3	37	c.97	CCDS56142.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699915	0.88924	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02323	4.34;4.34;4.34;4.34	5.98	5.98	0.97165	.	0.059444	0.64402	D	0.000001	T	0.15609	0.0376	M	0.82323	2.585	0.54753	D	0.999986	D;D	0.63880	0.993;0.992	D;D	0.69142	0.962;0.937	T	0.00023	-1.2329	10	0.46703	T	0.11	-16.1672	14.1106	0.65120	0.0:0.0:0.8496:0.1504	.	33;33	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	F	33;33;64;33	ENSP00000306178:L33F;ENSP00000386272:L33F;ENSP00000387345:L64F;ENSP00000386774:L33F	ENSP00000306178:L33F	L	-	1	0	SLC38A11	165510448	1.000000	0.71417	0.984000	0.44739	0.948000	0.59901	4.425000	0.59875	2.835000	0.97688	0.650000	0.86243	CTC	-	pfam_AA_transpt_TM		0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	protein_coding	OTTHUMT00000333390.1	G	NM_173512	-		165802202	-1	no_errors	ENST00000409149	ensembl	human	known	74_37	missense	SNP	0.998	A	A	165802202	G	A	165802202	3	1	205	1	0	0	0	0	1	0	0	0	14611	1000	35	2	1089	2	SLC38A11	2	165802202	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	24443021	165802202	77397171	66	16587											
SCN3A	6328	genome.wustl.edu	37	chr2	165947040	165947040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgccataaacctgtcttCcatctgtattcgaagggcat	8	10	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:165947040C>T	ENST00000360093.3	-	28	6114	c.5623G>A	c.(5623-5625)Gaa>Aaa	p.E1875K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E1826K|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1875K|SCN3A_ENST00000540861.1_Missense_Mutation_p.E358K|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1875					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)	AACCTGTCTTCCATCTGTATT	0.448																																																	0								ENSG00000153253						84	77	80					2																	165947040		2203	4300	6503	SCN3A	SO:0001583	missense	0			-	HGNC	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.5623G>A	2.37:g.165947040C>T	ENSP00000353206:p.Glu1875Lys	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E1875K	ENST00000360093.3	37	c.5623		2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345948	0.82022	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.97303	-4.12;-4.12;-4.04;-4.33	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	D	0.98871	0.9618	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	0.993;0.985;1.0	D;D;D	0.91635	0.989;0.967;0.999	D	0.99297	1.0900	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1826;1826;1875	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	K	1875;1875;1826;358	ENSP00000353206:E1875K;ENSP00000283254:E1875K;ENSP00000386726:E1826K;ENSP00000439920:E358K	ENSP00000283254:E1875K	E	-	1	0	SCN3A	165655286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.804000	0.96469	0.655000	0.94253	GAA	-	NULL		0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		C	NM_006922	-		165947040	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	SNP	1.000	T	T	165947040	C	T	165947040	3	4	205	1	0	0	0	0	1	0	0	0	13926	864	30	2	383	2	SCN3A	2	165947040	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	144838	165947040	77252333	67	16588											
SCN2A	6326	genome.wustl.edu	37	chr2	166179976	166179976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccctggtcgggggcccttCtaccctcacatctgctgggc	11	17	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:166179976C>T	ENST00000375437.2	+	12	2272	c.1982C>T	c.(1981-1983)tCt>tTt	p.S661F	SCN2A_ENST00000375427.2_Missense_Mutation_p.S661F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S661F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S661F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	661					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGGGCCCTTCTACCCTCACA	0.572																																																	0								ENSG00000136531						31	30	30					2																	166179976		2201	4300	6501	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1982C>T	2.37:g.166179976C>T	ENSP00000364586:p.Ser661Phe	Somatic	0	19	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.S661F	ENST00000375437.2	37	c.1982	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288629	0.80914	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.53	5.53	0.82687	Domain of unknown function DUF3451 (1);	0.382752	0.19037	U	0.124386	D	0.94387	0.8195	M	0.78916	2.43	0.51012	D	0.999901	B;P	0.44877	0.432;0.845	B;P	0.58077	0.121;0.832	D	0.93938	0.7220	10	0.51188	T	0.08	.	14.9951	0.71425	0.0:0.8578:0.1421:0.0	.	661;661	Q99250-2;Q99250	.;SCN2A_HUMAN	F	661	ENSP00000364586:S661F;ENSP00000349973:S661F;ENSP00000283256:S661F;ENSP00000364576:S661F	ENSP00000283256:S661F	S	+	2	0	SCN2A	165888222	0.882000	0.30256	0.979000	0.43373	0.964000	0.63967	5.818000	0.69236	2.595000	0.87683	0.637000	0.83480	TCT	-	pfam_DUF3451		0.572	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	C	NM_021007	-		166179976	1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	0.992	T	T	166179976	C	T	166179976	3	4	205	1	0	0	0	0	1	0	0	0	13924	913	32	2	2120	2	SCN2A	2	166179976	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	232936	166179976	77019397	68	16589											
TTN	7273	genome.wustl.edu	37	chr2	179427137	179427137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgcaggtgctccacttttCactccctttagtctgcattt	7	12	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:179427137C>T	ENST00000591111.1	-	276	79023	c.78799G>A	c.(78799-78801)Gaa>Aaa	p.E26267K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18968K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19035K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18843K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27908K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25340K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26267	Fibronectin type-III 91. {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)			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)			CTCCACTTTTCACTCCCTTTA	0.433																																																	0								ENSG00000155657						100	96	98					2																	179427137		1939	4153	6092	TTN	SO:0001583	missense	0			-	HGNC	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.78799G>A	2.37:g.179427137C>T	ENSP00000465570:p.Glu26267Lys	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	55	26.32	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E25340K	ENST00000591111.1	37	c.76018		2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228079	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.89	5.89	0.94794	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57417	0.2052	L	0.46819	1.47	0.58432	D	0.999998	P;P;P;P	0.43231	0.801;0.801;0.801;0.684	B;B;B;B	0.40741	0.339;0.339;0.339;0.258	T	0.61802	-0.6988	9	0.87932	D	0	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	18843;18968;19035;26267	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25340;18843;19035;18968;18841	ENSP00000343764:E25340K;ENSP00000434586:E18843K;ENSP00000340554:E19035K;ENSP00000352154:E18968K	ENSP00000340554:E19035K	E	-	1	0	TTN	179135383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.361000	0.52306	2.793000	0.96121	0.655000	0.94253	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179427137	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179427137	C	T	179427137	3	4	205	1	0	0	0	0	1	0	0	0	16742	835	29	2	24405	2	TTN	2	179427137	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	13247161	179427137	63772236	69	16590											
TTN	7273	genome.wustl.edu	37	chr2	179593002	179593002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagatatttcttttccatCcttaaaccactgagcactaa	4	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:179593002C>T	ENST00000591111.1	-	65	18822	c.18598G>A	c.(18598-18600)Gat>Aat	p.D6200N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D6517N|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5273N			Q8WZ42	TITIN_HUMAN	titin	12980	Ig-like 43.				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)			TCTTTTCCATCCTTAAACCAC	0.378																																																	0								ENSG00000155657						74	70	72					2																	179593002		1860	4097	5957	TTN	SO:0001583	missense	0			-	HGNC	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.18598G>A	2.37:g.179593002C>T	ENSP00000465570:p.Asp6200Asn	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	36	21.74	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D5273N	ENST00000591111.1	37	c.15817		2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295097	0.40594	.	.	ENSG00000155657	ENST00000342992	T	0.40756	1.02	5.78	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53658	0.1810	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.58418	-0.7640	9	0.87932	D	0	.	15.2633	0.73640	0.0:0.9325:0.0:0.0675	.	6200	Q8WZ42	TITIN_HUMAN	N	5273	ENSP00000343764:D5273N	ENSP00000343764:D5273N	D	-	1	0	TTN	179301247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.040000	0.70980	1.584000	0.49913	0.591000	0.81541	GAT	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179593002	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179593002	C	T	179593002	3	4	205	1	0	0	0	0	1	0	0	0	16742	855	30	2	85164	2	TTN	2	179593002	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	165865	179593002	63606371	70	16591											
TTN	7273	genome.wustl.edu	37	chr2	179594530	179594530	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaaggaaatgccatgtttCtgaatggctgttatttcatt	9	5	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:179594530C>T	ENST00000591111.1	-	61	17723	c.17499G>A	c.(17497-17499)caG>caA	p.Q5833Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.Q6150Q|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.Q4906Q			Q8WZ42	TITIN_HUMAN	titin	12632	Ig-like 39.				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)			TGCCATGTTTCTGAATGGCTG	0.423																																																	0								ENSG00000155657						89	86	87					2																	179594530		1899	4128	6027	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.17499G>A	2.37:g.179594530C>T		Somatic	0	31	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q4906	ENST00000591111.1	37	c.14718		2																																																																																			-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179594530	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.076	T	T	179594530	C	T	179594530	2	4	205	1	0	0	0	0	0	0	0	1	16742	912	32	2		2	TTN	2	179594530	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1528	179594530	63604843	71	16592											
ZNF804A	91752	genome.wustl.edu	37	chr2	185800578	185800578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaaactgtaatgaaatttCccaacgagttgttgtggatt	9	5	0	2	rs147922206		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:185800578C>T	ENST00000302277.6	+	4	1049	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	152							metal ion binding (GO:0046872)	p.S152F(1)|p.S152Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATGAAATTTCCCAACGAGTT	0.368																																																	2	Substitution - Missense(2)	lung(1)|skin(1)						ENSG00000170396						57	56	56					2																	185800578		2203	4300	6503	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.455C>T	2.37:g.185800578C>T	ENSP00000303252:p.Ser152Phe	Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.S152F	ENST00000302277.6	37	c.455	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614733	0.46631	.	.	ENSG00000170396	ENST00000302277	T	0.06608	3.28	5.18	4.24	0.50183	.	0.415884	0.20585	N	0.089452	T	0.08492	0.0211	L	0.50333	1.59	0.09310	N	1	P	0.44578	0.838	P	0.44990	0.466	T	0.18116	-1.0347	10	0.42905	T	0.14	-1.7788	7.3606	0.26744	0.1685:0.7468:0.0:0.0847	.	152	Q7Z570	Z804A_HUMAN	F	152	ENSP00000303252:S152F	ENSP00000303252:S152F	S	+	2	0	ZNF804A	185508823	0.011000	0.17503	0.548000	0.28192	0.931000	0.56810	1.420000	0.34804	2.418000	0.82041	0.467000	0.42956	TCC	-	NULL		0.368	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	C	NM_194250	rs147922206		185800578	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	0.005	T	T	185800578	C	T	185800578	3	4	205	1	0	0	0	0	1	0	0	0	18177	855	30	2	469	2	ZNF804A	2	185800578	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6206048	185800578	57398795	72	16593											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803113	185803113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggctgcgttataattcagGaatccttaacacacaaccac	7	11	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:185803113G>A	ENST00000302277.6	+	4	3584	c.2990G>A	c.(2989-2991)gGa>gAa	p.G997E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	997							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TATAATTCAGGAATCCTTAAC	0.433																																																	0								ENSG00000170396						108	101	103					2																	185803113		2203	4300	6503	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2990G>A	2.37:g.185803113G>A	ENSP00000303252:p.Gly997Glu	Somatic	0	31	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.G997E	ENST00000302277.6	37	c.2990	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867198	0.51588	.	.	ENSG00000170396	ENST00000302277	T	0.12465	2.68	5.14	4.24	0.50183	.	0.591289	0.15004	N	0.285965	T	0.33030	0.0849	L	0.57536	1.79	0.39152	D	0.962233	D	0.76494	0.999	D	0.69824	0.966	T	0.08289	-1.0729	10	0.87932	D	0	-11.7385	13.2689	0.60150	0.0:0.3041:0.6959:0.0	.	997	Q7Z570	Z804A_HUMAN	E	997	ENSP00000303252:G997E	ENSP00000303252:G997E	G	+	2	0	ZNF804A	185511358	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.733000	0.47360	1.108000	0.41662	0.467000	0.42956	GGA	-	NULL		0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	G	NM_194250	-		185803113	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	1.000	A	A	185803113	G	A	185803113	3	1	205	1	0	0	0	0	1	0	0	0	18177	1174	41	2	3004	2	ZNF804A	2	185803113	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2535	185803113	57396260	73	16594											
CALCRL	10203	genome.wustl.edu	37	chr2	188247945	188247945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cataatcttttggtaacattCatattgagctgtcatgattt	6	6	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:188247945C>T	ENST00000409998.1	-	6	920	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CALCRL_ENST00000410068.1_Missense_Mutation_p.E47K|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.E47K|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	47					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGGTAACATTCATATTGAGCT	0.338																																																	0								ENSG00000064989						172	163	166					2																	188247945		2203	4300	6503	CALCRL	SO:0001583	missense	0			-	HGNC	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.139G>A	2.37:g.188247945C>T	ENSP00000386972:p.Glu47Lys	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.E47K	ENST00000409998.1	37	c.139	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132197	0.77662	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.78	5.78	0.91487	GPCR, family 2, extracellular hormone receptor domain (1);	0.000000	0.64402	D	0.000009	T	0.37758	0.1015	L	0.45137	1.4	0.80722	D	1	B	0.25105	0.118	B	0.25405	0.06	T	0.19712	-1.0297	10	0.02654	T	1	.	15.5166	0.75830	0.0:1.0:0.0:0.0	.	47	Q16602	CALRL_HUMAN	K	47	ENSP00000376177:E47K;ENSP00000386972:E47K;ENSP00000387190:E47K;ENSP00000415626:E47K	ENSP00000376177:E47K	E	-	1	0	CALCRL	187956190	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.174000	0.71943	2.736000	0.93811	0.557000	0.71058	GAA	-	pfscan_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_calcitonin_rcpt		0.338	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	protein_coding	OTTHUMT00000334648.1	C	NM_005795	-		188247945	-1	no_errors	ENST00000392370	ensembl	human	known	74_37	missense	SNP	1.000	T	T	188247945	C	T	188247945	3	4	205	1	0	0	0	0	1	0	0	0	2582	835	29	2	1290	2	CALCRL	2	188247945	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2444832	188247945	54951428	74	16595											
COL5A2	1290	genome.wustl.edu	37	chr2	189906326	189906326	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttacctcaggtcctgcttCtcctacactgcctcgtacac	5	17	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:189906326C>T	ENST00000374866.3	-	50	3893	c.3619G>A	c.(3619-3621)Gaa>Aaa	p.E1207K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1207					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTCCTGCTTCTCCTACACTG	0.502																																																	0								ENSG00000204262						158	154	155					2																	189906326		2203	4300	6503	COL5A2	SO:0001583	missense	0			-	HGNC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3619G>A	2.37:g.189906326C>T	ENSP00000364000:p.Glu1207Lys	Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1207K	ENST00000374866.3	37	c.3619	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737661	0.89573	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.92752	-3.1	5.56	5.56	0.83823	.	0.000000	0.51477	D	0.000085	D	0.93051	0.7788	L	0.50919	1.6	0.80722	D	1	P;P	0.51449	0.856;0.945	P;P	0.55055	0.578;0.767	D	0.89656	0.3873	10	0.13470	T	0.59	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	847;1207	Q5PR22;P05997	.;CO5A2_HUMAN	K	1207;847	ENSP00000364000:E1207K	ENSP00000364000:E1207K	E	-	1	0	COL5A2	189614571	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.635000	0.83286	2.781000	0.95711	0.650000	0.86243	GAA	-	pfam_Collagen		0.502	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	C	NM_000393	-		189906326	-1	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	SNP	1.000	T	T	189906326	C	T	189906326	3	4	205	1	0	0	0	0	1	0	0	0	3699	922	32	2	900	2	COL5A2	2	189906326	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1658381	189906326	53293047	75	16596											
DNAH7	56171	genome.wustl.edu	37	chr2	196729166	196729166	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcttccagaaaagactcttCtttaatttgagtatctgtaa	5	7	4	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:196729166C>T	ENST00000312428.6	-	41	7313	c.7213G>A	c.(7213-7215)Gaa>Aaa	p.E2405K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2405	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGACTCTTCTTTAATTTGA	0.383																																																	0								ENSG00000118997						91	87	88					2																	196729166		1883	4106	5989	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7213G>A	2.37:g.196729166C>T	ENSP00000311273:p.Glu2405Lys	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.E2405K	ENST00000312428.6	37	c.7213	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	8.342	0.828912	0.16749	.	.	ENSG00000118997	ENST00000312428	T	0.39997	1.05	5.34	2.88	0.33553	Dynein heavy chain, P-loop containing D4 domain (1);	0.397553	0.26907	N	0.021899	T	0.36054	0.0953	L	0.57130	1.785	0.09310	N	1	B	0.06786	0.001	B	0.17722	0.019	T	0.27123	-1.0083	10	0.34782	T	0.22	.	7.7812	0.29066	0.0:0.0686:0.2614:0.67	.	2405	Q8WXX0	DYH7_HUMAN	K	2405	ENSP00000311273:E2405K	ENSP00000311273:E2405K	E	-	1	0	DNAH7	196437411	0.636000	0.27207	0.504000	0.27639	0.646000	0.38490	1.648000	0.37271	0.113000	0.18004	-1.179000	0.01719	GAA	-	superfamily_P-loop_NTPase		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-		196729166	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	0.038	T	T	196729166	C	T	196729166	3	4	205	1	0	0	0	0	1	0	0	0	4608	922	32	2	4961	2	DNAH7	2	196729166	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6822840	196729166	46470207	76	16597											
PGAP1	80055	genome.wustl.edu	37	chr2	197750179	197750179	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagcagttcagctttccatGataaatcaaccccttgcagg	8	12	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:197750179G>A	ENST00000354764.4	-	12	1355	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	PGAP1_ENST00000409475.1_Missense_Mutation_p.S414L|PGAP1_ENST00000409188.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	414					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGCTTTCCATGATAAATCAAC	0.264																																																	0								ENSG00000197121						57	65	63					2																	197750179		2197	4292	6489	PGAP1	SO:0001583	missense	0			-	HGNC		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1241C>T	2.37:g.197750179G>A	ENSP00000346809:p.Ser414Leu	Somatic	0	100	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	102	14.88	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP							pfam_PGAP1-like	p.S414L	ENST00000354764.4	37	c.1241	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732167	0.89390	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.992;0.981	P;D	0.69824	0.755;0.966	T	0.64334	-0.6432	9	0.52906	T	0.07	-16.0594	14.225	0.65853	0.0:0.0:1.0:0.0	.	414;414	Q75T13-3;Q75T13	.;PGAP1_HUMAN	L	194;414;414	.	ENSP00000346809:S414L	S	-	2	0	PGAP1	197458424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.318000	0.65829	2.732000	0.93576	0.591000	0.81541	TCA	-	NULL		0.264	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	protein_coding	OTTHUMT00000256103.5	G	NM_024989	-		197750179	-1	no_errors	ENST00000354764	ensembl	human	known	74_37	missense	SNP	1.000	A	A	197750179	G	A	197750179	3	1	205	1	0	0	0	0	1	0	0	0	11779	1294	45	2	1591	2	PGAP1	2	197750179	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1021013	197750179	45449194	77	16598											
ERBB4	2066	genome.wustl.edu	37	chr2	212483964	212483964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaatcttaatagccacagGaatcttcacagtttctcctt	5	10	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:212483964G>A	ENST00000342788.4	-	19	2549	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P747S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P737S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	747	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATAGCCACAGGAATCTTCACA	0.373										TSP Lung(8;0.080)																																							0								ENSG00000178568						118	116	117					2																	212483964		2203	4300	6503	ERBB4	SO:0001583	missense	0			-	HGNC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2239C>T	2.37:g.212483964G>A	ENSP00000342235:p.Pro747Ser	Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P747S	ENST00000342788.4	37	c.2239	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042367	0.93685	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.81996	-1.56;-1.56;-1.56	4.91	4.91	0.64330	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	0.86506	0.5949	L	0.38692	1.165	0.80722	D	1	D;D;D;D	0.67145	0.978;0.996;0.961;0.982	P;D;B;P	0.63192	0.492;0.912;0.27;0.626	D	0.88285	0.2939	10	0.87932	D	0	.	18.0478	0.89338	0.0:0.0:1.0:0.0	.	737;737;747;747	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	747;747;737	ENSP00000342235:P747S;ENSP00000403204:P747S;ENSP00000385565:P737S	ENSP00000342235:P747S	P	-	1	0	ERBB4	212192209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.349000	0.97066	2.436000	0.82500	0.655000	0.94253	CCT	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	protein_coding	OTTHUMT00000256597.1	G	NM_001042599	-		212483964	-1	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	SNP	1.000	A	A	212483964	G	A	212483964	3	1	205	1	0	0	0	0	1	0	0	0	5211	1174	41	2	1727	2	ERBB4	2	212483964	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	14733785	212483964	30715409	78	16599											
CCDC108	255101	genome.wustl.edu	37	chr2	219903267	219903267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgagcatcatgtccttggGacacagtccaaagggagcac	13	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:219903267G>A	ENST00000341552.5	-	4	270	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	CCDC108_ENST00000410037.1_5'UTR|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000441968.1_Missense_Mutation_p.P63S|CCDC108_ENST00000295729.2_5'UTR|CCDC108_ENST00000453220.1_Missense_Mutation_p.P63S|CCDC108_ENST00000409865.3_Missense_Mutation_p.P52S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	63						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTCCTTGGGACACAGTCCA	0.577																																																	0								ENSG00000181378						59	47	51					2																	219903267		2203	4300	6503	CCDC108	SO:0001583	missense	0			-	HGNC	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.187C>T	2.37:g.219903267G>A	ENSP00000340776:p.Pro63Ser	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP							superfamily_PapD-like,pfscan_MSP_dom	p.P63S	ENST00000341552.5	37	c.187	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319819	0.23994	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000457968	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	3.74	1.33	0.21861	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.26292	-1.0107	9	0.27785	T	0.31	0.206	2.1592	0.03820	0.5935:0.0:0.1588:0.2477	.	52;63	E9PG25;Q6ZU64	.;CC108_HUMAN	S	63;63;63;52;52	ENSP00000340776:P63S;ENSP00000413377:P63S;ENSP00000409117:P63S;ENSP00000386945:P52S;ENSP00000393483:P52S	ENSP00000340776:P63S	P	-	1	0	CCDC108	219611511	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.332000	0.19751	0.271000	0.22005	-0.169000	0.13324	CCC	-	NULL		0.577	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	G	NM_194302	-		219903267	-1	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	SNP	0.007	A	A	219903267	G	A	219903267	3	1	205	1	0	0	0	0	1	0	0	0	2745	1174	41	2	5866	2	CCDC108	2	219903267	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7419303	219903267	23296106	79	16600											
EPHA4	2043	genome.wustl.edu	37	chr2	222290846	222290846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtgatggctgtgatacCaattcttgccaggtccctgt	12	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:222290846C>T	ENST00000281821.2	-	17	2904	c.2863G>A	c.(2863-2865)Ggt>Agt	p.G955S	EPHA4_ENST00000469354.1_5'Flank|EPHA4_ENST00000409938.1_Missense_Mutation_p.G955S|EPHA4_ENST00000392071.4_Missense_Mutation_p.G904S|EPHA4_ENST00000409854.1_3'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	955	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTGTGATACCAATTCTTGCC	0.498																																																	0								ENSG00000116106						172	149	156					2																	222290846		2203	4300	6503	EPHA4	SO:0001583	missense	0			-	HGNC	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2863G>A	2.37:g.222290846C>T	ENSP00000281821:p.Gly955Ser	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G955S	ENST00000281821.2	37	c.2863	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808663	0.90707	.	.	ENSG00000116106	ENST00000281821;ENST00000409938;ENST00000392071	D;D;D	0.92149	-2.98;-2.98;-2.98	5.77	5.77	0.91146	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98074	1.0400	10	0.87932	D	0	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	955	P54764	EPHA4_HUMAN	S	955;955;904	ENSP00000281821:G955S;ENSP00000386829:G955S;ENSP00000375923:G904S	ENSP00000281821:G955S	G	-	1	0	EPHA4	221999090	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.723000	0.93209	0.655000	0.94253	GGT	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.498	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	protein_coding	OTTHUMT00000256836.3	C		-		222290846	-1	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	SNP	1.000	T	T	222290846	C	T	222290846	3	4	205	1	0	0	0	0	1	0	0	0	5171	594	21	2	101	2	EPHA4	2	222290846	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2387579	222290846	20908527	80	16601											
SP140	11262	genome.wustl.edu	37	chr2	231103060	231103060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggattaacctgatggcctatCctgatttaaacgagatttac	8	8	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:231103060C>T	ENST00000392045.3	+	3	484	c.370C>T	c.(370-372)Cct>Tct	p.P124S	SP140_ENST00000417495.3_Missense_Mutation_p.P124S|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.P124S|SP140_ENST00000343805.6_Missense_Mutation_p.P124S|SP140_ENST00000420434.3_Missense_Mutation_p.P124S|SP140_ENST00000350136.5_Missense_Mutation_p.P104S|SP140_ENST00000486687.2_Missense_Mutation_p.P124S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	124	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATGGCCTATCCTGATTTAAA	0.413																																																	0								ENSG00000079263						96	86	89					2																	231103060		2203	4300	6503	SP140	SO:0001583	missense	0			-	HGNC	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.370C>T	2.37:g.231103060C>T	ENSP00000375899:p.Pro124Ser	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP							pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.P124S	ENST00000392045.3	37	c.370	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720210	0.48728	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	3.7	2.82	0.32997	Sp100 (2);	.	.	.	.	D	0.97040	0.9033	M	0.80332	2.49	0.20764	N	0.999858	D;D;D;D;D;P	0.89917	0.975;0.975;0.969;1.0;0.975;0.952	P;P;P;D;P;P	0.97110	0.897;0.865;0.835;1.0;0.872;0.753	D	0.90389	0.4394	9	0.87932	D	0	-10.0593	7.0994	0.25327	0.0:0.8769:0.0:0.1231	.	124;124;124;124;124;124	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	S	124;124;124;104;124;124;124;124;124	ENSP00000440107:P124S;ENSP00000345846:P104S;ENSP00000375899:P124S;ENSP00000342096:P124S;ENSP00000398210:P124S;ENSP00000362749:P124S	ENSP00000342096:P124S	P	+	1	0	SP140	230811304	0.066000	0.20996	0.364000	0.25888	0.748000	0.42578	1.760000	0.38430	1.124000	0.41980	0.655000	0.94253	CCT	-	pfam_Sp100		0.413	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	protein_coding	OTTHUMT00000332015.1	C	NM_007237	-		231103060	1	no_errors	ENST00000392045	ensembl	human	known	74_37	missense	SNP	0.529	T	T	231103060	C	T	231103060	3	4	205	1	0	0	0	0	1	0	0	0	14970	855	30	2	380	2	SP140	2	231103060	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	8812214	231103060	12096313	81	16602											
COL6A3	1293	genome.wustl.edu	37	chr2	238280646	238280646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagatgaggaccaggaaCtgcgggacgccctcttcaat	13	11	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:238280646C>T	ENST00000295550.4	-	9	4466	c.4014G>A	c.(4012-4014)caG>caA	p.Q1338Q	COL6A3_ENST00000392004.3_Silent_p.Q1132Q|COL6A3_ENST00000472056.1_Silent_p.Q731Q|COL6A3_ENST00000346358.4_Silent_p.Q1138Q|COL6A3_ENST00000347401.3_Silent_p.Q1137Q|COL6A3_ENST00000392003.2_Silent_p.Q931Q|COL6A3_ENST00000409809.1_Silent_p.Q1132Q|COL6A3_ENST00000353578.4_Silent_p.Q1132Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1338	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCAGGAACTGCGGGACGC	0.617																																																	0								ENSG00000163359						36	33	34					2																	238280646		2203	4300	6503	COL6A3	SO:0001819	synonymous_variant	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4014G>A	2.37:g.238280646C>T		Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q1338	ENST00000295550.4	37	c.4014	CCDS33412.1	2																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238280646	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	SNP	1.000	T	T	238280646	C	T	238280646	2	4	205	1	0	0	0	0	0	0	0	1	3703	564	20	2		2	COL6A3	2	238280646	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7177586	238280646	4918727	82	16603											
LRRFIP1	9208	genome.wustl.edu	37	chr2	238668788	238668788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataatgttggataccaaggtCctaccaagatgacaaaagaa	8	7	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:238668788C>T	ENST00000392000.4	+	10	946	c.829C>T	c.(829-831)Cct>Tct	p.P277S	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.P221S|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.P467S|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.P253S	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	277					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)		ATACCAAGGTCCTACCAAGAT	0.438																																																	0								ENSG00000124831						111	105	107					2																	238668788		2203	4300	6503	LRRFIP1	SO:0001583	missense	0			-	HGNC	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.829C>T	2.37:g.238668788C>T	ENSP00000375857:p.Pro277Ser	Somatic	0	62	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	70	14.63	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP							pfam_Leu-rich_rep_flightless-int_pr	p.P277S	ENST00000392000.4	37	c.829	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567784	0.45798	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.61	-1.84	0.07809	.	0.642245	0.15702	N	0.248900	T	0.31104	0.0786	L	0.28192	0.835	0.09310	N	1	B;P;P;P;B	0.49635	0.008;0.89;0.926;0.89;0.002	B;P;P;P;B	0.53593	0.026;0.503;0.73;0.526;0.008	T	0.32402	-0.9908	10	0.09843	T	0.71	-0.1469	5.8257	0.18552	0.0:0.3652:0.2379:0.3969	.	221;221;277;253;467	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	S	467;221;457;253;277	ENSP00000310109:P467S;ENSP00000289175:P221S;ENSP00000244815:P253S;ENSP00000375857:P277S	ENSP00000244815:P253S	P	+	1	0	LRRFIP1	238333527	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	0.068000	0.14531	-0.311000	0.08754	0.655000	0.94253	CCT	-	pfam_Leu-rich_rep_flightless-int_pr		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	protein_coding	OTTHUMT00000317198.1	C	NM_004735	-		238668788	1	no_errors	ENST00000392000	ensembl	human	known	74_37	missense	SNP	0.000	T	T	238668788	C	T	238668788	3	4	205	1	0	0	0	0	1	0	0	0	9029	855	30	2	1543	2	LRRFIP1	2	238668788	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	388142	238668788	4530585	83	16604											
AQP12B	653437	genome.wustl.edu	37	chr2	241622024	241622024	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtgcgccaggaagagcagGaagagcagggtgagcagcag	18	9	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:241622024G>A	ENST00000407834.3	-	1	293	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	65						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGAAGAGCAGGAAGAGCAGGG	0.682																																																	0								ENSG00000185176						50	51	51					2																	241622024		2203	4296	6499	AQP12B	SO:0001819	synonymous_variant	0			-	HGNC	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.231C>T	2.37:g.241622024G>A		Somatic	0	97	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	134	16.25	A4QPB9	Silent	SNP							pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.F77	ENST00000407834.3	37	c.231	CCDS46560.1	2																																																																																			-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP		0.682	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	protein_coding	OTTHUMT00000325625.1	G		-		241622024	-1	no_errors	ENST00000407834	ensembl	human	known	74_37	silent	SNP	1.000	A	A	241622024	G	A	241622024	2	1	205	1	0	0	0	0	0	0	0	1	825	1165	41	2		2	AQP12B	2	241622024	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2953236	241622024	1577349	84	16605											
FARP2	9855	genome.wustl.edu	37	chr2	242371175	242371175	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagatttcttatcaaacttCatccagaggttcatgtaagt	6	7	4	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr2:242371175C>T	ENST00000264042.3	+	9	1023	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	FARP2_ENST00000373287.4_Missense_Mutation_p.H285Y|FARP2_ENST00000545004.1_Missense_Mutation_p.H285Y	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H285Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TATCAAACTTCATCCAGAGGT	0.313																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000006607						102	96	98					2																	242371175		2203	4300	6503	FARP2	SO:0001583	missense	0			-	HGNC	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.853C>T	2.37:g.242371175C>T	ENSP00000264042:p.His285Tyr	Somatic	0	69	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	77	19.79	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.H285Y	ENST00000264042.3	37	c.853	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	c	15.42	2.829417	0.50845	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	D;D;D	0.87179	-2.22;-2.22;-2.22	4.84	3.97	0.46021	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.058923	0.64402	D	0.000003	D	0.91865	0.7425	M	0.86953	2.85	0.58432	D	0.999999	P;P;P	0.48407	0.886;0.716;0.91	P;B;P	0.53266	0.59;0.381;0.722	D	0.92851	0.6297	10	0.87932	D	0	.	13.2927	0.60280	0.0:0.9225:0.0:0.0775	.	285;285;285	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	Y	285	ENSP00000264042:H285Y;ENSP00000443876:H285Y;ENSP00000362384:H285Y	ENSP00000264042:H285Y	H	+	1	0	FARP2	242019848	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.735000	0.62051	1.170000	0.42753	0.558000	0.71614	CAT	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.313	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	protein_coding	OTTHUMT00000323153.1	C		-		242371175	1	no_errors	ENST00000264042	ensembl	human	known	74_37	missense	SNP	1.000	T	T	242371175	C	T	242371175	3	4	205	1	0	0	0	0	1	0	0	0	5679	826	29	2	883	2	FARP2	2	242371175	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	749151	242371175	828198	85	16606											
CNTN6	27255	genome.wustl.edu	37	chr3	1418690	1418690	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcttggttatttttagtCcctgttgtggcaccagtaaa	8	8	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:1418690C>T	ENST00000446702.2	+	17	2724	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	CNTN6_ENST00000350110.2_Splice_Site_p.V699V|CNTN6_ENST00000539053.1_Splice_Site_p.V627V			Q9UQ52	CNTN6_HUMAN	contactin 6	699					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)		TATTTTTAGTCCCTGTTGTGG	0.383																																																	0								ENSG00000134115						178	170	173					3																	1418690		2203	4300	6503	CNTN6	SO:0001630	splice_region_variant	0			-	HGNC	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.2096-1C>T	3.37:g.1418690C>T		Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	81	19.80	Q2KHM2	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V699	ENST00000446702.2	37	c.2097	CCDS2557.1	3																																																																																			-	NULL		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	protein_coding	OTTHUMT00000239235.2	C	NM_014461	-	Silent	1418690	1	no_errors	ENST00000350110	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1418690	C	T	1418690	5	4	205	1	0	0	0	0	0	0	1	0	3647	869	30	2	2159	2	CNTN6	3	1418690	Splice_Site	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		1418690	196603740	86	16607											
ATP2B2	491	genome.wustl.edu	37	chr3	10417133	10417133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcaccgaataggccaacGagatggtgacggccagaggg	14	11	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:10417133G>A	ENST00000352432.4	-	10	1466	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	ATP2B2_ENST00000397077.1_Missense_Mutation_p.S421L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S466L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.S452L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.S421L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	466					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						ATAGGCCAACGAGATGGTGAC	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)												0								ENSG00000157087						58	63	61					3																	10417133		2203	4300	6503	ATP2B2	SO:0001583	missense	0			-	HGNC	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.1397C>T	3.37:g.10417133G>A	ENSP00000324172:p.Ser466Leu	Somatic	0	23	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	31	24.39	O00766|Q12994|Q16818	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.S466L	ENST00000352432.4	37	c.1397	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362807	0.61403	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	4.34	4.34	0.51931	ATPase, P-type, ATPase-associated domain (1);	0.062054	0.64402	D	0.000002	D	0.93871	0.8039	M	0.82323	2.585	0.80722	D	1	B;P;D	0.56746	0.016;0.845;0.977	B;B;P	0.53185	0.009;0.344;0.72	D	0.95112	0.8239	10	0.87932	D	0	-14.2901	17.0685	0.86567	0.0:0.0:1.0:0.0	.	401;433;466	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	466;421;421;466;452;401;322;466	ENSP00000324172:S466L;ENSP00000373311:S421L;ENSP00000380267:S421L;ENSP00000353414:S466L;ENSP00000344677:S452L;ENSP00000414854:S322L	ENSP00000342954:S466L	S	-	2	0	ATP2B2	10392133	1.000000	0.71417	0.932000	0.37286	0.708000	0.40852	9.657000	0.98554	2.234000	0.73211	0.561000	0.74099	TCG	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase		0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	protein_coding	OTTHUMT00000250576.2	G	NM_001683	-		10417133	-1	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10417133	G	A	10417133	3	1	205	1	0	0	0	0	1	0	0	0	1140	1059	37	1	2386	1	ATP2B2	3	10417133	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	8998443	10417133	187605297	87	16608											
TSEN2	80746	genome.wustl.edu	37	chr3	12571292	12571292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcgagctagttgatgacCattttgaaggctctctccgc	9	10	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:12571292C>T	ENST00000284995.6	+	10	1555	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000314571.7_Missense_Mutation_p.H364Y|TSEN2_ENST00000415684.1_Missense_Mutation_p.H364Y|TSEN2_ENST00000402228.3_Missense_Mutation_p.H390Y|TSEN2_ENST00000454502.2_Missense_Mutation_p.H331Y|TSEN2_ENST00000444864.1_Missense_Mutation_p.H364Y|TSEN2_ENST00000383797.5_Missense_Mutation_p.H373Y	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	390					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGTTGATGACCATTTTGAAGG	0.388																																																	0								ENSG00000154743						105	102	103					3																	12571292		2203	4300	6503	TSEN2	SO:0001583	missense	0			-	HGNC	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1168C>T	3.37:g.12571292C>T	ENSP00000284995:p.His390Tyr	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	68	12.82	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP							pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2	p.H390Y	ENST00000284995.6	37	c.1168	CCDS2611.1	3	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249369	0.39797	.	.	ENSG00000154743	ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.49;0.47	5.99	1.64	0.23874	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	1.203660	0.05571	N	0.571098	T	0.34774	0.0909	N	0.05230	-0.09	0.09310	N	1	P;B;P;P	0.42827	0.791;0.014;0.461;0.516	B;B;B;B	0.43508	0.422;0.011;0.072;0.106	T	0.28364	-1.0046	10	0.62326	D	0.03	-0.1619	5.1013	0.14760	0.421:0.404:0.1011:0.074	.	364;390;364;331	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Y	364;331;373;390;390;364;363;364	ENSP00000323188:H364Y;ENSP00000392029:H331Y;ENSP00000373307:H373Y;ENSP00000385976:H390Y;ENSP00000284995:H390Y;ENSP00000407974:H364Y;ENSP00000416510:H364Y	ENSP00000284995:H390Y	H	+	1	0	TSEN2	12546292	0.000000	0.05858	0.005000	0.12908	0.727000	0.41649	-0.194000	0.09559	0.387000	0.25024	-0.169000	0.13324	CAT	-	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2		0.388	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN2	protein_coding	OTTHUMT00000251981.1	C	NM_025265	-		12571292	1	no_errors	ENST00000284995	ensembl	human	known	74_37	missense	SNP	0.000	T	T	12571292	C	T	12571292	3	4	205	1	0	0	0	0	1	0	0	0	16619	594	21	2	1202	2	TSEN2	3	12571292	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2154159	12571292	185451138	88	16609											
COLQ	8292	genome.wustl.edu	37	chr3	15515533	15515533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacattccaggaaatcCtgggaaaccctgtgaaaaga	8	12	0	2	rs374783562		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:15515533C>T	ENST00000383788.5	-	10	735	c.610G>A	c.(610-612)Gga>Aga	p.G204R	COLQ_ENST00000383781.4_Missense_Mutation_p.G194R|COLQ_ENST00000383787.2_Missense_Mutation_p.G195R|COLQ_ENST00000383785.2_Missense_Mutation_p.G204R|COLQ_ENST00000435459.2_Intron|COLQ_ENST00000603808.1_Missense_Mutation_p.G204R|COLQ_ENST00000383786.5_Missense_Mutation_p.G170R	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	204	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCAGGAAATCCTGGGAAACCC	0.408																																																	0								ENSG00000206561	C	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	100	91	94		610,580,508	5.8	1	3		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COLQ	NM_005677.3,NM_080538.2,NM_080539.3	125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	204/456,194/446,170/422	15515533	1,13005	2203	4300	6503	COLQ	SO:0001583	missense	0			-	HGNC	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.610G>A	3.37:g.15515533C>T	ENSP00000373298:p.Gly204Arg	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	58	20.55	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP							pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.G204R	ENST00000383788.5	37	c.610	CCDS33709.1	3	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639006	0.67130	0.0	1.16E-4	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D	0.99488	-6.0;-6.0;-6.0;-6.0;-6.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99347	4.525	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;D;D;D	0.97110	1.0;0.938;0.999;1.0	D	0.96939	0.9686	10	0.87932	D	0	-8.6204	16.9129	0.86144	0.0:1.0:0.0:0.0	.	170;195;204;194	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	R	195;194;204;204;194;204;170;147	ENSP00000373297:G195R;ENSP00000373291:G194R;ENSP00000373295:G204R;ENSP00000373298:G204R;ENSP00000373296:G170R	ENSP00000373291:G194R	G	-	1	0	COLQ	15490537	1.000000	0.71417	0.981000	0.43875	0.951000	0.60555	5.772000	0.68889	2.744000	0.94065	0.561000	0.74099	GGA	-	NULL		0.408	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	protein_coding	OTTHUMT00000343575.1	C	NM_005677	-		15515533	-1	no_errors	ENST00000383788	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15515533	C	T	15515533	3	4	205	1	0	0	0	0	1	0	0	0	3715	690	24	2	789	2	COLQ	3	15515533	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2944241	15515533	182506897	89	16610											
TRANK1	9881	genome.wustl.edu	37	chr3	36940674	36940674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctctgcacaagtcgcAgaccctcaaaaaacatgcga	8	13	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:36940674A>G	ENST00000429976.2	-	3	474	c.227T>C	c.(226-228)cTg>cCg	p.L76P	TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	76							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACAAGTCGCAGACCCTCAAA	0.493																																																	0								ENSG00000168016						59	62	61					3																	36940674		692	1591	2283	TRANK1	SO:0001583	missense	0			-	HGNC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.227T>C	3.37:g.36940674A>G	ENSP00000416168:p.Leu76Pro	Somatic	0	60	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	78	22.00	Q8N8K0	Missense_Mutation	SNP							pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L76P	ENST00000429976.2	37	c.227	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154352	0.78114	.	.	ENSG00000168016	ENST00000429976	T	0.25250	1.81	5.61	5.61	0.85477	.	.	.	.	.	T	0.50137	0.1598	M	0.83118	2.625	0.80722	D	1	.	.	.	.	.	.	T	0.55964	-0.8057	7	0.72032	D	0.01	.	13.6407	0.62249	1.0:0.0:0.0:0.0	.	.	.	.	P	76	ENSP00000416168:L76P	ENSP00000416168:L76P	L	-	2	0	TRANK1	36915678	0.998000	0.40836	0.986000	0.45419	0.829000	0.46940	5.040000	0.64191	2.272000	0.75746	0.460000	0.39030	CTG	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	protein_coding		A	NM_014831	-		36940674	-1	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	SNP	0.990	G	G	36940674	A	G	36940674	3	3	205	1	0	0	0	0	1	0	0	0	16461	188	7	5	8634	5	TRANK1	3	36940674	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	21425141	36940674	161081756	90	16611											
SCN10A	6336	genome.wustl.edu	37	chr3	38783839	38783839	+	Silent	SNP	G	G	A													ctcatgccatggtgctccatGgccatgaagatggtgttcac							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:38783839G>A	ENST00000449082.2	-	13	2048	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	683					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGTGCTCCATGGCCATGAAGA	0.557																																																	0								ENSG00000185313						131	102	112					3																	38783839		2203	4300	6503	SCN10A	SO:0001819	synonymous_variant	0			-	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2049C>T	3.37:g.38783839G>A		Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	A6NDQ1	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.A683	ENST00000449082.2	37	c.2049	CCDS33736.1	3																																																																																			-	NULL		0.557	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	G	NM_006514	-		38783839	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38783839	G	A	38783839	2	1	205	1	0	0	0	0	0	0	0	1	13920	1335	47	2		2	SCN10A	3	38783839	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1843165	38783839	159238591	91	16612	478	2									
SCN10A	6336	genome.wustl.edu	37	chr3	38783840	38783840	+	Missense_Mutation	SNP	G	G	A													tcatgccatggtgctccatgGccatgaagatggtgttcacc							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:38783840G>A	ENST00000449082.2	-	13	2047	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	683					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTGCTCCATGGCCATGAAGAT	0.552																																																	0								ENSG00000185313						132	103	113					3																	38783840		2203	4300	6503	SCN10A	SO:0001583	missense	0			-	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2048C>T	3.37:g.38783840G>A	ENSP00000390600:p.Ala683Val	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	A6NDQ1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.A683V	ENST00000449082.2	37	c.2048	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328768	0.81690	.	.	ENSG00000185313	ENST00000449082	D	0.97404	-4.37	4.42	4.42	0.53409	.	0.059628	0.64402	D	0.000003	D	0.97838	0.9290	M	0.91196	3.185	0.44780	D	0.997783	P	0.46706	0.883	P	0.47346	0.544	D	0.99620	1.0983	10	0.87932	D	0	.	17.1821	0.86858	0.0:0.0:1.0:0.0	.	683	Q9Y5Y9	SCNAA_HUMAN	V	683	ENSP00000390600:A683V	ENSP00000390600:A683V	A	-	2	0	SCN10A	38758844	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.503000	0.97984	2.445000	0.82738	0.585000	0.79938	GCC	-	NULL		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	G	NM_006514	-		38783840	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38783840	G	A	38783840	3	1	205	1	0	0	0	0	1	0	0	0	13920	1203	42	2	3882	2	SCN10A	3	38783840	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1	38783840	159238590	92	16613	478	2									
SCN11A	11280	genome.wustl.edu	37	chr3	38938429	38938429	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacattcccacatattttcGatccattccccgcagaggat	5	13	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:38938429G>A	ENST00000302328.3	-	14	2508	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	SCN11A_ENST00000444237.2_Silent_p.I770I|SCN11A_ENST00000456224.3_Silent_p.I770I|SCN11A_ENST00000450244.1_Silent_p.I770I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	770					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATATTTTCGATCCATTCCC	0.473																																																	0								ENSG00000168356						123	114	117					3																	38938429		2203	4300	6503	SCN11A	SO:0001819	synonymous_variant	0			-	HGNC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2310C>T	3.37:g.38938429G>A		Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.I770	ENST00000302328.3	37	c.2310	CCDS33737.1	3																																																																																			-	pfam_Ion_trans_dom		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	protein_coding	OTTHUMT00000109746.4	G	NM_014139	-		38938429	-1	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	SNP	0.086	A	A	38938429	G	A	38938429	2	1	205	1	0	0	0	0	0	0	0	1	13921	1048	37	1		1	SCN11A	3	38938429	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	154589	38938429	159084001	93	16614											
CDCP1	64866	genome.wustl.edu	37	chr3	45153654	45153654	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaggtgtaaggccattttCactccttcttgcatcttgat	10	9	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:45153654C>T	ENST00000296129.1	-	3	710	c.576G>A	c.(574-576)gtG>gtA	p.V192V	CDCP1_ENST00000425231.2_Silent_p.V192V|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	192						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGCCATTTTCACTCCTTCTT	0.537																																																	0								ENSG00000163814						168	159	162					3																	45153654		2203	4300	6503	CDCP1	SO:0001819	synonymous_variant	0			-	HGNC	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.576G>A	3.37:g.45153654C>T		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP							superfamily_CUB_dom	p.V192	ENST00000296129.1	37	c.576	CCDS2727.1	3																																																																																			-	NULL		0.537	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	protein_coding	OTTHUMT00000256748.3	C	NM_022842	-		45153654	-1	no_errors	ENST00000296129	ensembl	human	known	74_37	silent	SNP	0.125	T	T	45153654	C	T	45153654	2	4	205	1	0	0	0	0	0	0	0	1	3095	813	29	2		2	CDCP1	3	45153654	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6215225	45153654	152868776	94	16615											
FYCO1	79443	genome.wustl.edu	37	chr3	46014638	46014638	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcgacgccaggtcaaactGaacctcagtcagctcataga	8	14	4	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:46014638G>A	ENST00000296137.2	-	6	686	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.Q161*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	161	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGGTCAAACTGAACCTCAGTC	0.493																																																	0								ENSG00000163820						108	102	104					3																	46014638		2203	4300	6503	FYCO1	SO:0001587	stop_gained	0			-	HGNC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.481C>T	3.37:g.46014638G>A	ENSP00000296137:p.Gln161*	Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.29	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Nonsense_Mutation	SNP							pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.Q161*	ENST00000296137.2	37	c.481	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.768480	0.98480	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	6.08	6.08	0.98989	.	0.117022	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.5731	18.844	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000296137:Q161X	Q	-	1	0	FYCO1	45989642	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	9.496000	0.97967	2.894000	0.99253	0.655000	0.94253	CAG	-	pfam_Run,pfscan_Run		0.493	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	protein_coding	OTTHUMT00000257320.2	G	NM_024513	-		46014638	-1	no_errors	ENST00000535325	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	46014638	G	A	46014638	4	1	205	1	0	0	0	0	0	1	0	0	6127	1299	45	2	4007	2	FYCO1	3	46014638	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	860984	46014638	152007792	95	16616											
TMIE	259236	genome.wustl.edu	37	chr3	46751105	46751105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagaagaaggacaGtgtggacacagtggccatca	14	6	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:46751105G>A	ENST00000326431.3	+	4	553	c.398G>A	c.(397-399)aGt>aAt	p.S133N		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	133	Lys-rich.				inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		aagaagGACAGTGTGGACACA	0.512																																																	0								ENSG00000181585						115	122	120					3																	46751105		1982	4161	6143	TMIE	SO:0001583	missense	0			-	HGNC	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.398G>A	3.37:g.46751105G>A	ENSP00000324775:p.Ser133Asn	Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	A0AV93|A8K0R0	Missense_Mutation	SNP							NULL	p.S133N	ENST00000326431.3	37	c.398	CCDS43081.1	3	.	.	.	.	.	.	.	.	.	.	g	16.96	3.265260	0.59431	.	.	ENSG00000181585	ENST00000326431	D	0.91011	-2.77	4.45	2.52	0.30459	.	0.517070	0.20876	N	0.084086	T	0.81922	0.4925	L	0.29908	0.895	0.20307	N	0.999912	P	0.36535	0.557	B	0.29785	0.107	T	0.74100	-0.3774	10	0.46703	T	0.11	-7.1931	10.5533	0.45101	0.0:0.3831:0.6169:0.0	.	133	Q8NEW7	TMIE_HUMAN	N	133	ENSP00000324775:S133N	ENSP00000324775:S133N	S	+	2	0	TMIE	46726109	0.988000	0.35896	0.998000	0.56505	0.973000	0.67179	1.535000	0.36061	1.231000	0.43661	-0.121000	0.15023	AGT	-	NULL		0.512	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIE	protein_coding	OTTHUMT00000313853.1	G	NM_147196	-		46751105	1	no_errors	ENST00000326431	ensembl	human	known	74_37	missense	SNP	0.981	A	A	46751105	G	A	46751105	3	1	205	1	0	0	0	0	1	0	0	0	16236	1029	36	2	412	2	TMIE	3	46751105	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	736467	46751105	151271325	96	16617											
IQCF2	389123	genome.wustl.edu	37	chr3	51897111	51897111	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctcagggcctggataattCagtgctggtggcggatgacg	15	10	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:51897111C>T	ENST00000333127.3	+	3	249	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	74										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGATAATTCAGTGCTGGTG	0.582																																																	0								ENSG00000184345						79	79	79					3																	51897111		2203	4300	6503	IQCF2	SO:0001587	stop_gained	0			-	HGNC	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.220C>T	3.37:g.51897111C>T	ENSP00000329904:p.Gln74*	Somatic	0	36	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00		Nonsense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q74*	ENST00000333127.3	37	c.220	CCDS2835.1	3	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550416	0.65311	.	.	ENSG00000184345	ENST00000333127	.	.	.	5.23	5.23	0.72850	.	0.000000	0.48767	D	0.000174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-33.3138	14.4995	0.67711	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000329904:Q74X	Q	+	1	0	IQCF2	51872151	0.992000	0.36948	0.981000	0.43875	0.701000	0.40568	2.148000	0.42235	2.871000	0.98454	0.655000	0.94253	CAG	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS		0.582	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF2	protein_coding	OTTHUMT00000346594.1	C	NM_203424	-		51897111	1	no_errors	ENST00000333127	ensembl	human	known	74_37	nonsense	SNP	0.996	T	T	51897111	C	T	51897111	4	4	205	1	0	0	0	0	0	1	0	0	7810	827	29	2	230	2	IQCF2	3	51897111	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5146006	51897111	146125319	97	16618											
SEMA3G	56920	genome.wustl.edu	37	chr3	52473941	52473941	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccacgcggtccaccacGatctggtgtagctgctgggc	13	15	1	0	rs149338010		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:52473941G>A	ENST00000231721.2	-	11	1316	c.1317C>T	c.(1315-1317)atC>atT	p.I439I		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	439	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGTCCACCACGATCTGGTGTA	0.637																																																	0								ENSG00000010319						75	76	76					3																	52473941		2203	4300	6503	SEMA3G	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1317C>T	3.37:g.52473941G>A		Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	62	16.22	Q7L9D9|Q9H7Q3	Silent	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I439	ENST00000231721.2	37	c.1317	CCDS2856.1	3																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.637	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	protein_coding	OTTHUMT00000351354.1	G	NM_020163	-		52473941	-1	no_errors	ENST00000231721	ensembl	human	known	74_37	silent	SNP	0.030	A	A	52473941	G	A	52473941	2	1	205	1	0	0	0	0	0	0	0	1	14038	1048	37	1		1	SEMA3G	3	52473941	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	576830	52473941	145548489	98	16619											
ITIH1	3697	genome.wustl.edu	37	chr3	52820317	52820317	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcaactctcaggagggaCaagaattcagtataacctgc	8	11	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:52820317C>T	ENST00000273283.2	+	13	1624	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	ITIH1_ENST00000537050.1_Nonsense_Mutation_p.Q246*|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000542827.1_Nonsense_Mutation_p.Q534*|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.Q392*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	534	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCAGGAGGGACAAGAATTCAG	0.577																																																	0								ENSG00000055957						58	43	48					3																	52820317		2202	4296	6498	ITIH1	SO:0001587	stop_gained	0			-	HGNC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1600C>T	3.37:g.52820317C>T	ENSP00000273283:p.Gln534*	Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Nonsense_Mutation	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.Q534*	ENST00000273283.2	37	c.1600	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.176339	0.98114	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	.	.	.	5.49	4.56	0.56223	.	0.699813	0.14655	N	0.306358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4059	10.7457	0.46179	0.1896:0.8104:0.0:0.0	.	.	.	.	X	534;534;392;246;87	.	ENSP00000273283:Q534X	Q	+	1	0	ITIH1	52795357	0.010000	0.17322	0.997000	0.53966	0.640000	0.38277	2.312000	0.43726	2.582000	0.87167	0.462000	0.41574	CAA	-	NULL		0.577	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	protein_coding	OTTHUMT00000317522.1	C	NM_002215	-		52820317	1	no_errors	ENST00000273283	ensembl	human	known	74_37	nonsense	SNP	0.997	T	T	52820317	C	T	52820317	4	4	205	1	0	0	0	0	0	1	0	0	7905	479	17	2	1650	2	ITIH1	3	52820317	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	346376	52820317	145202113	99	16620											
CACNA1D	776	genome.wustl.edu	37	chr3	53778779	53778779	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccctagatccagtgccatCtccgttgtgaagattctgag	9	11	2	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:53778779C>T	ENST00000350061.5	+	23	3442	c.2931C>T	c.(2929-2931)atC>atT	p.I977I	CACNA1D_ENST00000422281.2_Silent_p.I977I|CACNA1D_ENST00000288139.4_Silent_p.I997I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	977					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGTGCCATCTCCGTTGTGA	0.507																																																	0								ENSG00000157388						171	135	147					3																	53778779		2203	4300	6503	CACNA1D	SO:0001819	synonymous_variant	0			-	HGNC	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2931C>T	3.37:g.53778779C>T		Somatic	0	54	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	62	20.51	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.I997	ENST00000350061.5	37	c.2991	CCDS46848.1	3																																																																																			-	pfam_Ion_trans_dom		0.507	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	C	NM_000720	-		53778779	1	no_errors	ENST00000288139	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53778779	C	T	53778779	2	4	205	1	0	0	0	0	0	0	0	1	2543	903	32	2		2	CACNA1D	3	53778779	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	958462	53778779	144243651	100	16621											
DNAH12	201625	genome.wustl.edu	37	chr3	57443834	57443834	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatttatcataccgagggaaGaaaagacgtttcttttcaag	8	6	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:57443834G>A	ENST00000351747.2	-	21	3156	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	992	Stem. {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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ACCGAGGGAAGAAAAGACGTT	0.294																																																	0								ENSG00000174844						118	101	106					3																	57443834		692	1591	2283	DNAH12	SO:0001819	synonymous_variant	0			-	HGNC	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2976C>T	3.37:g.57443834G>A		Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.75	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F992	ENST00000351747.2	37	c.2976		3																																																																																			-	pfam_Dynein_heavy_dom-2		0.294	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	protein_coding		G	NM_178504	-		57443834	-1	no_errors	ENST00000351747	ensembl	human	known	74_37	silent	SNP	1.000	A	A	57443834	G	A	57443834	2	1	205	1	0	0	0	0	0	0	0	1	4602	933	33	2		2	DNAH12	3	57443834	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3665055	57443834	140578596	101	16622											
PDHB	5162	genome.wustl.edu	37	chr3	58413849	58413849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctttgcataaggcataGggacatcagcaccagtgaca	10	9	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:58413849G>A	ENST00000302746.6	-	10	1034	c.992C>T	c.(991-993)cCt>cTt	p.P331L	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_Missense_Mutation_p.P313L|PDHB_ENST00000474765.1_3'UTR	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	331					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	ATAAGGCATAGGGACATCAGC	0.423																																																	0								ENSG00000168291						76	71	73					3																	58413849		2203	4300	6503	PDHB	SO:0001583	missense	0			-	HGNC		CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.992C>T	3.37:g.58413849G>A	ENSP00000307241:p.Pro331Leu	Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP							pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.P331L	ENST00000302746.6	37	c.992	CCDS2890.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.400289	0.96030	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460	D;D;D	0.92911	-3.13;-3.13;-3.13	6.16	6.16	0.99307	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	H	0.99074	4.42	0.80722	D	1	D;D;D	0.71674	0.992;0.984;0.998	D;D;P	0.76071	0.987;0.936;0.897	D	0.98619	1.0666	10	0.87932	D	0	-5.9473	20.8598	0.99761	0.0:0.0:1.0:0.0	.	313;313;331	B4DDD7;P11177-2;P11177	.;.;ODPB_HUMAN	L	331;313;313	ENSP00000307241:P331L;ENSP00000373220:P313L;ENSP00000417267:P313L	ENSP00000307241:P331L	P	-	2	0	PDHB	58388889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.434000	0.97515	2.937000	0.99478	0.650000	0.86243	CCT	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.423	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHB	protein_coding	OTTHUMT00000353558.1	G		-		58413849	-1	no_errors	ENST00000302746	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58413849	G	A	58413849	3	1	205	1	0	0	0	0	1	0	0	0	11668	1000	35	2	91	2	PDHB	3	58413849	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	970015	58413849	139608581	102	16623											
OR5K4	403278	genome.wustl.edu	37	chr3	98072975	98072975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgaggatagaattatttCcctgtatgaatgtatggcac	9	6	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:98072975C>T	ENST00000354924.2	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	93						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(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGAATTATTTCCCTGTATGAA	0.433																																																	0								ENSG00000196098						233	243	240					3																	98072975		2203	4300	6503	OR5K4	SO:0001583	missense	0			-	HGNC		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.278C>T	3.37:g.98072975C>T	ENSP00000347003:p.Ser93Phe	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S93F	ENST00000354924.2	37	c.278	CCDS33802.1	3	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048956	0.55110	.	.	ENSG00000196098	ENST00000354924	T	0.00745	5.75	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32430	U	0.006117	T	0.07143	0.0181	H	0.94183	3.505	0.49051	D	0.999745	D	0.76494	0.999	D	0.69824	0.966	T	0.00521	-1.1691	10	0.87932	D	0	-34.1048	15.6545	0.77124	0.0:1.0:0.0:0.0	.	93	A6NMS3	OR5K4_HUMAN	F	93	ENSP00000347003:S93F	ENSP00000347003:S93F	S	+	2	0	OR5K4	99555665	0.764000	0.28473	1.000000	0.80357	0.269000	0.26545	3.357000	0.52277	2.618000	0.88619	0.603000	0.83216	TCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	protein_coding	OTTHUMT00000359114.1	C		-		98072975	1	no_errors	ENST00000354924	ensembl	human	known	74_37	missense	SNP	1.000	T	T	98072975	C	T	98072975	3	4	205	1	0	0	0	0	1	0	0	0	11171	855	30	2	280	2	OR5K4	3	98072975	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	39659126	98072975	99949455	103	16624											
MORC1	27136	genome.wustl.edu	37	chr3	108836856	108836856	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcacgagttggcgtggatGaaatccagacgcagctgggc	14	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:108836856G>A	ENST00000483760.1	-	1	94	c.51C>T	c.(49-51)ttC>ttT	p.F17F	MORC1_ENST00000232603.5_Silent_p.F17F					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGCGTGGATGAAATCCAGAC	0.637																																																	0								ENSG00000114487						29	23	25					3																	108836856		2202	4297	6499	MORC1	SO:0001819	synonymous_variant	0			-	HGNC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.51C>T	3.37:g.108836856G>A		Somatic	0	153	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	167	16.50		Silent	SNP							pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.F17	ENST00000483760.1	37	c.51		3																																																																																			-	NULL		0.637	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	G		-		108836856	-1	no_errors	ENST00000232603	ensembl	human	known	74_37	silent	SNP	1.000	A	A	108836856	G	A	108836856	2	1	205	1	0	0	0	0	0	0	0	1	9703	1281	45	2		2	MORC1	3	108836856	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	10763881	108836856	89185574	104	16625											
PHLDB2	90102	genome.wustl.edu	37	chr3	111632168	111632168	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcctccctgtgttccaggaGagacagcgtctggagaccat	11	13	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:111632168G>A	ENST00000431670.2	+	3	1749	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	PHLDB2_ENST00000495180.1_Silent_p.E32E|PHLDB2_ENST00000412622.1_Silent_p.E446E|PHLDB2_ENST00000481953.1_Silent_p.E446E|PHLDB2_ENST00000477695.1_Silent_p.E446E|PHLDB2_ENST00000393925.3_Silent_p.E446E|PHLDB2_ENST00000393923.3_Silent_p.E473E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	446						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.E446D(2)|p.E473D(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTTCCAGGAGAGACAGCGTC	0.498																																																	3	Substitution - Missense(3)	endometrium(3)						ENSG00000144824						118	118	118					3																	111632168		2203	4300	6503	PHLDB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1338G>A	3.37:g.111632168G>A		Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E446	ENST00000431670.2	37	c.1338	CCDS46886.1	3																																																																																			-	NULL		0.498	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	G	NM_145753	-		111632168	1	no_errors	ENST00000393925	ensembl	human	known	74_37	silent	SNP	1.000	A	A	111632168	G	A	111632168	2	1	205	1	0	0	0	0	0	0	0	1	11854	933	33	2		2	PHLDB2	3	111632168	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2795312	111632168	86390262	105	16626											
ZDHHC23	254887	genome.wustl.edu	37	chr3	113675255	113675255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgatcttcttgctcacCtcggtgtatgggatcacact	8	11	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:113675255C>T	ENST00000330212.3	+	4	1241	c.942C>T	c.(940-942)acC>acT	p.T314T	ZDHHC23_ENST00000498275.1_Silent_p.T308T	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	314					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TCTTGCTCACCTCGGTGTATG	0.393																																																	0								ENSG00000184307						219	207	211					3																	113675255		2203	4300	6503	ZDHHC23	SO:0001819	synonymous_variant	0			-	HGNC	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.942C>T	3.37:g.113675255C>T		Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	51	22.73	D3DN76	Silent	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.T314	ENST00000330212.3	37	c.942	CCDS33827.1	3																																																																																			-	NULL		0.393	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	protein_coding	OTTHUMT00000354702.1	C	NM_173570	-		113675255	1	no_errors	ENST00000478793	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113675255	C	T	113675255	2	4	205	1	0	0	0	0	0	0	0	1	17621	668	24	2		2	ZDHHC23	3	113675255	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2043087	113675255	84347175	106	16627											
KALRN	8997	genome.wustl.edu	37	chr3	124207076	124207076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaacttgctgtgaagaagGgaaaggggagctcaaggatg	15	4	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:124207076G>A	ENST00000240874.3	+	29	4461	c.4304G>A	c.(4303-4305)gGg>gAg	p.G1435E	KALRN_ENST00000460856.1_Missense_Mutation_p.G1426E|KALRN_ENST00000360013.3_Missense_Mutation_p.G1435E	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1435	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGAAGAAGGGAAAGGGGAG	0.522																																																	0								ENSG00000160145						114	93	100					3																	124207076		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4304G>A	3.37:g.124207076G>A	ENSP00000240874:p.Gly1435Glu	Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G1435E	ENST00000240874.3	37	c.4304	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.906228|4.906228	0.92107|0.92107	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|T	0.61392|0.63096	0.11;0.11;0.11|-0.02	4.84|4.84	4.84|4.84	0.62591|0.62591	Dbl homology (DH) domain (5);|.	0.063724|0.063724	0.64402|0.64402	N|D	0.000007|0.000007	T|T	0.67515|0.67515	0.2901|0.2901	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.993;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.92;0.997;1.0|.	T|T	0.70930|0.70930	-0.4738|-0.4738	10|8	0.59425|0.87932	D|D	0.04|0	.|.	18.5078|18.5078	0.90904|0.90904	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1426;781;1435;1435|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	E|R	1426;1435;1435|1404	ENSP00000418611:G1426E;ENSP00000240874:G1435E;ENSP00000353109:G1435E|ENSP00000346122:G1404R	ENSP00000240874:G1435E|ENSP00000346122:G1404R	G|G	+|+	2|1	0|0	KALRN|KALRN	125689766|125689766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.601000|9.601000	0.98297|0.98297	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	GGG|GGA	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.522	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000258843.4	G	NM_003947	-		124207076	1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124207076	G	A	124207076	3	1	205	1	0	0	0	0	1	0	0	0	7977	1232	43	2	4418	2	KALRN	3	124207076	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	10531821	124207076	73815354	107	16628											
COL6A5	256076	genome.wustl.edu	37	chr3	130107651	130107651	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatttctgatgcaatagataGaatgtctctcatcaatgaag	7	6	4	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:130107651G>A	ENST00000432398.2	+	6	2584	c.2090G>A	c.(2089-2091)aGa>aAa	p.R697K	COL6A5_ENST00000265379.6_Missense_Mutation_p.R697K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	697	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCAATAGATAGAATGTCTCTC	0.393																																																	0								ENSG00000172752						48	42	44					3																	130107651		692	1591	2283	COL6A5	SO:0001583	missense	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2090G>A	3.37:g.130107651G>A	ENSP00000390895:p.Arg697Lys	Somatic	0	36	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	50	24.24	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R697K	ENST00000432398.2	37	c.2090		3	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673705	0.29693	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.77229	-1.08;-1.08	5.59	3.72	0.42706	.	.	.	.	.	T	0.73194	0.3556	L	0.42008	1.315	0.09310	N	0.999993	B	0.31705	0.336	B	0.38755	0.281	T	0.57075	-0.7873	9	0.13108	T	0.6	.	14.8133	0.70010	0.0:0.2747:0.7253:0.0	.	697	A8TX70-2	.	K	697	ENSP00000390895:R697K;ENSP00000265379:R697K	ENSP00000265379:R697K	R	+	2	0	COL6A5	131590341	0.000000	0.05858	0.081000	0.20488	0.875000	0.50365	-0.402000	0.07223	0.661000	0.30985	0.650000	0.86243	AGA	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		G	NM_153264	-		130107651	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	SNP	0.679	A	A	130107651	G	A	130107651	3	1	205	1	0	0	0	0	1	0	0	0	3704	942	33	2	2108	2	COL6A5	3	130107651	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5900575	130107651	67914779	108	16629											
PRR23C	389152	genome.wustl.edu	37	chr3	138762997	138762997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagagtccgcgtcctcctCgtaggcctcttcctcggcag	10	17	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:138762997C>T	ENST00000413199.1	-	1	737	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PRR23C_ENST00000502927.2_Missense_Mutation_p.E156K|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	156										breast(2)|lung(7)|skin(2)	11						GCGTCCTCCTCGTAGGCCTCT	0.632																																																	0								ENSG00000233701						32	35	34					3																	138762997		692	1591	2283	PRR23C	SO:0001583	missense	0			-	HGNC		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.466G>A	3.37:g.138762997C>T	ENSP00000396648:p.Glu156Lys	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.39		Missense_Mutation	SNP							pfam_UPF0572	p.E156K	ENST00000413199.1	37	c.466	CCDS46924.1	3	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650348	0.47362	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.08	-2.66	0.06077	.	1.910920	0.03139	N	0.166321	T	0.57036	0.2026	M	0.68952	2.095	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.50110	-0.8866	9	0.39692	T	0.17	.	4.0409	0.09751	0.0:0.3061:0.3452:0.3487	.	156	Q6ZRP0	PR23C_HUMAN	K	156	.	ENSP00000396648:E156K	E	-	1	0	PRR23C	140245687	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.192000	0.09587	-0.641000	0.05487	0.455000	0.32223	GAG	-	pfam_UPF0572		0.632	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	protein_coding	OTTHUMT00000361502.1	C	NM_001134657	-		138762997	-1	no_errors	ENST00000413199	ensembl	human	known	74_37	missense	SNP	0.000	T	T	138762997	C	T	138762997	3	4	205	1	0	0	0	0	1	0	0	0	12601	893	31	1	326	1	PRR23C	3	138762997	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	8655346	138762997	59259433	109	16630											
PRR23C	389152	genome.wustl.edu	37	chr3	138763066	138763066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcgacgacgacgtcttCcccgtgagcgcccaggaaaa	11	15	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:138763066C>T	ENST00000413199.1	-	1	668	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	PRR23C_ENST00000502927.2_Missense_Mutation_p.E133K|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	133										breast(2)|lung(7)|skin(2)	11						ACGACGTCTTCCCCGTGAGCG	0.647																																																	0								ENSG00000233701						44	43	44					3																	138763066		692	1591	2283	PRR23C	SO:0001583	missense	0			-	HGNC		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.397G>A	3.37:g.138763066C>T	ENSP00000396648:p.Glu133Lys	Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35		Missense_Mutation	SNP							pfam_UPF0572	p.E133K	ENST00000413199.1	37	c.397	CCDS46924.1	3	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989141	0.53934	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.39	1.48	0.22813	.	2.146400	0.02220	N	0.063973	T	0.56381	0.1981	L	0.50333	1.59	0.09310	N	1	D	0.59767	0.986	P	0.58970	0.849	T	0.40776	-0.9545	9	0.72032	D	0.01	.	9.3561	0.38168	0.0:0.5683:0.4317:0.0	.	133	Q6ZRP0	PR23C_HUMAN	K	133	.	ENSP00000396648:E133K	E	-	1	0	PRR23C	140245756	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	-0.057000	0.11768	0.408000	0.25621	0.455000	0.32223	GAA	-	pfam_UPF0572		0.647	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	protein_coding	OTTHUMT00000361502.1	C	NM_001134657	-		138763066	-1	no_errors	ENST00000413199	ensembl	human	known	74_37	missense	SNP	0.006	T	T	138763066	C	T	138763066	3	4	205	1	0	0	0	0	1	0	0	0	12601	864	30	2	395	2	PRR23C	3	138763066	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	69	138763066	59259364	110	16631											
GRK7	131890	genome.wustl.edu	37	chr3	141499263	141499263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaagatgtatgcctgtaaGaaactggacaagaagcggct	14	6	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:141499263G>A	ENST00000264952.2	+	2	797	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGCCTGTAAGAAACTGGACA	0.453																																																	0								ENSG00000114124						77	77	77					3																	141499263		2203	4300	6503	GRK7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.660G>A	3.37:g.141499263G>A		Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.K220	ENST00000264952.2	37	c.660	CCDS3120.1	3																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.453	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	protein_coding	OTTHUMT00000353168.1	G	NM_139209	-		141499263	1	no_errors	ENST00000264952	ensembl	human	known	74_37	silent	SNP	1.000	A	A	141499263	G	A	141499263	2	1	205	1	0	0	0	0	0	0	0	1	6796	933	33	2		2	GRK7	3	141499263	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2736197	141499263	56523167	111	16632											
GMPS	8833	genome.wustl.edu	37	chr3	155649568	155649568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagggtgactgtcgttcCtacagttacgtgtgtggaat	12	7	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:155649568C>T	ENST00000496455.2	+	13	1910	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	GMPS_ENST00000295920.7_Silent_p.S426S	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	525					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	ACTGTCGTTCCTACAGTTACG	0.333			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0								ENSG00000163655						156	142	146					3																	155649568		1835	4081	5916	GMPS	SO:0001819	synonymous_variant	0			-	HGNC	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1575C>T	3.37:g.155649568C>T		Somatic	0	54	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	A8K639|B4DXV7|F8W720	Silent	SNP							pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.S525	ENST00000496455.2	37	c.1575	CCDS46941.1	3																																																																																			-	pfam_GMP_synth_C		0.333	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	protein_coding	OTTHUMT00000351260.2	C		-		155649568	1	no_errors	ENST00000496455	ensembl	human	known	74_37	silent	SNP	0.999	T	T	155649568	C	T	155649568	2	4	205	1	0	0	0	0	0	0	0	1	6500	668	24	2		2	GMPS	3	155649568	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	14150305	155649568	42372862	112	16633											
ABCF3	55324	genome.wustl.edu	37	chr3	183909015	183909015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcagtcgcctctctgtgtCtgctgatctcgagtctcgca	9	14	5	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:183909015C>T	ENST00000429586.2	+	16	1726	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.S508F	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	514	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCTCTGTGTCTGCTGATCTC	0.532																																																	0								ENSG00000161204						197	170	179					3																	183909015		2203	4300	6503	ABCF3	SO:0001583	missense	0			-	HGNC	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1541C>T	3.37:g.183909015C>T	ENSP00000411471:p.Ser514Phe	Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	94	17.54	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S514F	ENST00000429586.2	37	c.1541	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951016	0.92660	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	T;T	0.81415	-1.49;-1.49	5.93	5.93	0.95920	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	M	0.70787	2.145	0.80722	D	1	D;D	0.69078	0.997;0.988	D;P	0.70487	0.969;0.805	D	0.89592	0.3828	10	0.87932	D	0	-13.9017	19.3249	0.94258	0.0:1.0:0.0:0.0	.	508;514	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	F	514;508	ENSP00000411471:S514F;ENSP00000292808:S508F	ENSP00000292808:S508F	S	+	2	0	ABCF3	185391709	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.779000	0.68948	2.805000	0.96524	0.655000	0.94253	TCT	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.532	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	protein_coding	OTTHUMT00000346047.1	C	NM_018358	-		183909015	1	no_errors	ENST00000429586	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183909015	C	T	183909015	3	4	205	1	0	0	0	0	1	0	0	0	67	913	32	2	1603	2	ABCF3	3	183909015	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	28259447	183909015	14113415	113	16634											
LEPREL1	55214	genome.wustl.edu	37	chr3	189690672	189690672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatctcaccagacagggCtgttcggcagaccatgtgtg	12	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr3:189690672C>T	ENST00000319332.5	-	11	1887	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	LEPREL1_ENST00000427335.2_Missense_Mutation_p.A383T	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	564	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGACAGGGCTGTTCGGCAG	0.403																																																	0								ENSG00000090530						107	103	104					3																	189690672		2203	4300	6503	LEPREL1	SO:0001583	missense	0			-	HGNC		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1690G>A	3.37:g.189690672C>T	ENSP00000316881:p.Ala564Thr	Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	66	17.50	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP							pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.A564T	ENST00000319332.5	37	c.1690	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638749	0.87760	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.65732	-0.17;-0.17	5.71	4.8	0.61643	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.047535	0.85682	D	0.000000	T	0.68595	0.3018	M	0.81802	2.56	0.80722	D	1	P	0.37525	0.598	B	0.40864	0.342	T	0.70967	-0.4728	9	.	.	.	-13.7952	17.5051	0.87742	0.0:0.8659:0.1341:0.0	.	564	Q8IVL5	P3H2_HUMAN	T	564;383	ENSP00000316881:A564T;ENSP00000408947:A383T	.	A	-	1	0	LEPREL1	191173366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.775000	0.68915	2.686000	0.91538	0.650000	0.86243	GCC	-	smart_Pro_4_hyd_alph		0.403	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	protein_coding	OTTHUMT00000343855.1	C	NM_018192	-		189690672	-1	no_errors	ENST00000319332	ensembl	human	known	74_37	missense	SNP	1.000	T	T	189690672	C	T	189690672	3	4	205	1	0	0	0	0	1	0	0	0	8732	797	28	2	456	2	LEPREL1	3	189690672	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5781657	189690672	8331758	114	16635											
FGFR3	2261	genome.wustl.edu	37	chr4	1806225	1806225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaccgtgcacaagatctCccgcttcccgctcaagcgac	7	20	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:1806225C>T	ENST00000260795.2	+	8	1346	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	FGFR3_ENST00000340107.4_Missense_Mutation_p.S417F|FGFR3_ENST00000440486.2_Missense_Mutation_p.S415F|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.S415F			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	415					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CACAAGATCTCCCGCTTCCCG	0.657		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0								ENSG00000068078						139	156	150					4																	1806225		2203	4299	6502	FGFR3	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	-	HGNC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1244C>T	4.37:g.1806225C>T	ENSP00000260795:p.Ser415Phe	Somatic	0	72	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	75	15.56	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S417F	ENST00000260795.2	37	c.1250	CCDS3353.1	4	.	.	.	.	.	.	.	.	.	.	c	27.2	4.805701	0.90623	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	M	0.86651	2.83	0.80722	D	1	D;D;D	0.76494	0.997;0.995;0.999	D;P;D	0.74348	0.981;0.905;0.983	D	0.94400	0.7622	10	0.48119	T	0.1	.	17.4357	0.87552	0.0:1.0:0.0:0.0	.	417;415;415	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	F	415;417;415;415	ENSP00000420533:S415F;ENSP00000339824:S417F;ENSP00000414914:S415F;ENSP00000260795:S415F	ENSP00000260795:S415F	S	+	2	0	FGFR3	1776023	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.271000	0.78506	2.189000	0.69895	0.462000	0.41574	TCC	-	pirsf_FGF_rcpt_fam		0.657	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	protein_coding	OTTHUMT00000241632.2	C	NM_000142	-		1806225	1	no_errors	ENST00000340107	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1806225	C	T	1806225	3	4	205	1	0	0	0	0	1	0	0	0	5869	855	30	2	1429	2	FGFR3	4	1806225	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		1806225	189348051	115	16636											
KIAA0232	9778	genome.wustl.edu	37	chr4	6864253	6864253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaacttgtagtccatggtCccattcagaagaaacacgtt	8	9	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:6864253C>T	ENST00000307659.5	+	7	2599	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S715F	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	715							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTCCATGGTCCCATTCAGAA	0.343																																																	0								ENSG00000170871						65	60	62					4																	6864253		1842	4090	5932	KIAA0232	SO:0001583	missense	0			-	HGNC	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2144C>T	4.37:g.6864253C>T	ENSP00000303928:p.Ser715Phe	Somatic	0	28	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A7E2D2	Missense_Mutation	SNP							NULL	p.S715F	ENST00000307659.5	37	c.2144	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059204	0.76074	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80254	-0.1459	9	0.87932	D	0	-20.5855	19.8991	0.96978	0.0:1.0:0.0:0.0	.	715	Q92628	K0232_HUMAN	F	715	.	ENSP00000303928:S715F	S	+	2	0	KIAA0232	6915154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.385000	0.79763	2.708000	0.92522	0.655000	0.94253	TCC	-	NULL		0.343	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	protein_coding	OTTHUMT00000359102.2	C	NM_014743	-		6864253	1	no_errors	ENST00000307659	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6864253	C	T	6864253	3	4	205	1	0	0	0	0	1	0	0	0	8165	855	30	2	2162	2	KIAA0232	4	6864253	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5058028	6864253	184290023	116	16637											
SEL1L3	23231	genome.wustl.edu	37	chr4	25806367	25806367	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatacagattcattttggttCcttggcactgtaaataacac	7	8	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:25806367C>T	ENST00000399878.3	-	10	1694	c.1572G>A	c.(1570-1572)agG>agA	p.R524R	SEL1L3_ENST00000264868.5_Silent_p.R489R|SEL1L3_ENST00000502949.1_Silent_p.R371R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	524						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATTTTGGTTCCTTGGCACTG	0.388																																																	0								ENSG00000091490						89	84	86					4																	25806367		1861	4102	5963	SEL1L3	SO:0001819	synonymous_variant	0			-	HGNC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1572G>A	4.37:g.25806367C>T		Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	52	13.33	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP							pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.R524	ENST00000399878.3	37	c.1572	CCDS47037.1	4																																																																																			-	NULL		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	protein_coding	OTTHUMT00000360261.1	C	NM_015187	-		25806367	-1	no_errors	ENST00000399878	ensembl	human	known	74_37	silent	SNP	0.815	T	T	25806367	C	T	25806367	2	4	205	1	0	0	0	0	0	0	0	1	14020	854	30	2		2	SEL1L3	4	25806367	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	18942114	25806367	165347909	117	16638											
SHISA3	152573	genome.wustl.edu	37	chr4	42403081	42403081	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccatcttcattgcgttcatCatcctgggctctgtagtggc	9	12	5	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:42403081C>T	ENST00000319234.4	+	2	548	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	110					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCGTTCATCATCCTGGGCT	0.507																																																	0								ENSG00000178343						220	221	221					4																	42403081		2203	4300	6503	SHISA3	SO:0001819	synonymous_variant	0			-	HGNC	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.330C>T	4.37:g.42403081C>T		Somatic	0	84	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	87	15.53	A0PJX3|Q96EQ5	Silent	SNP							NULL	p.I110	ENST00000319234.4	37	c.330	CCDS33979.1	4																																																																																			-	NULL		0.507	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA3	protein_coding	OTTHUMT00000363539.1	C	NM_001080505	-		42403081	1	no_errors	ENST00000319234	ensembl	human	known	74_37	silent	SNP	0.997	T	T	42403081	C	T	42403081	2	4	205	1	0	0	0	0	0	0	0	1	14289	816	29	2		2	SHISA3	4	42403081	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	16596714	42403081	148751195	118	16639											
TEC	7006	genome.wustl.edu	37	chr4	48230594	48230594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctgctgtgaccttTtaataagaatctcctccaaa	4	10	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:48230594T>C	ENST00000381501.3	-	2	195	c.38A>G	c.(37-39)aAa>aGa	p.K13R		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	13	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTGTGACCTTTTAATAAGAAT	0.388																																																	0								ENSG00000135605						136	129	131					4																	48230594		2203	4300	6503	TEC	SO:0001583	missense	0			-	HGNC	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.38A>G	4.37:g.48230594T>C	ENSP00000370912:p.Lys13Arg	Somatic	0	60	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	64	20.00	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.K13R	ENST00000381501.3	37	c.38	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469883	0.84533	.	.	ENSG00000135605	ENST00000381501	D	0.96554	-4.05	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.193417	0.42420	D	0.000707	D	0.98419	0.9474	M	0.91818	3.245	0.53005	D	0.999967	D	0.69078	0.997	D	0.79108	0.992	D	0.99667	1.0995	10	0.87932	D	0	.	15.5343	0.75990	0.0:0.0:0.0:1.0	.	13	P42680	TEC_HUMAN	R	13	ENSP00000370912:K13R	ENSP00000370912:K13R	K	-	2	0	TEC	47925351	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.748000	0.74877	2.125000	0.65367	0.482000	0.46254	AAA	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.388	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	protein_coding	OTTHUMT00000250492.3	T		-		48230594	-1	no_errors	ENST00000381501	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48230594	T	C	48230594	3	2	205	1	0	0	0	0	1	0	0	0	15749	1841	64	5	1925	5	TEC	4	48230594	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	5827513	48230594	142923682	119	16640											
KIT	3815	genome.wustl.edu	37	chr4	55589796	55589796	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctcgtgaatggcatgctCcaatgtgtggcagcaggatt	14	8	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:55589796C>T	ENST00000288135.5	+	8	1375	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		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	426	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)	ATGGCATGCTCCAATGTGTGG	0.448		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																														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								ENSG00000157404						109	97	101					4																	55589796		2203	4300	6503	KIT	SO:0001819	synonymous_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)	-	HGNC	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.1278C>T	4.37:g.55589796C>T		Somatic	0	95	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	102	16.39	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L426	ENST00000288135.5	37	c.1278	CCDS3496.1	4																																																																																			-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.448	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	C		-		55589796	1	no_errors	ENST00000288135	ensembl	human	known	74_37	silent	SNP	0.654	T	T	55589796	C	T	55589796	2	4	205	1	0	0	0	0	0	0	0	1	8331	842	30	2		2	KIT	4	55589796	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7359202	55589796	135564480	120	16641											
SLC10A6	345274	genome.wustl.edu	37	chr4	87744874	87744874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgtggccaactggctcGagagccctgtggcaatccat	13	11	0	2	rs569333477		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:87744874G>A	ENST00000273905.6	-	6	1248	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	367					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CAACTGGCTCGAGAGCCCTGT	0.542																																																	0								ENSG00000145283						112	94	100					4																	87744874		2203	4300	6503	SLC10A6	SO:0001819	synonymous_variant	0			-	HGNC	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1101C>T	4.37:g.87744874G>A		Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	69	18.82	Q70EX7	Silent	SNP							pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L367	ENST00000273905.6	37	c.1101	CCDS3614.1	4																																																																																			-	NULL		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	protein_coding	OTTHUMT00000253043.2	G	NM_197965	-		87744874	-1	no_errors	ENST00000273905	ensembl	human	known	74_37	silent	SNP	0.000	A	A	87744874	G	A	87744874	2	1	205	1	0	0	0	0	0	0	0	1	14386	1045	37	1		1	SLC10A6	4	87744874	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	32155078	87744874	103409402	121	16642											
GRID2	2895	genome.wustl.edu	37	chr4	94436461	94436461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgcatgaaaggactgaatCcttttgagagggacagcatg	12	8	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:94436461C>T	ENST00000282020.4	+	13	2350	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	GRID2_ENST00000510992.1_Missense_Mutation_p.P603S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	698					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGGACTGAATCCTTTTGAGAG	0.478																																																	0								ENSG00000152208						120	106	110					4																	94436461		2203	4300	6503	GRID2	SO:0001583	missense	0			-	HGNC	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2092C>T	4.37:g.94436461C>T	ENSP00000282020:p.Pro698Ser	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	68	16.05	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P698S	ENST00000282020.4	37	c.2092	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976546	0.92982	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.14766	2.53;2.48	5.1	5.1	0.69264	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.985;0.996	T	0.36456	-0.9747	10	0.72032	D	0.01	.	18.8725	0.92320	0.0:1.0:0.0:0.0	.	603;698	E9PH24;O43424	.;GRID2_HUMAN	S	698;603	ENSP00000282020:P698S;ENSP00000421257:P603S	ENSP00000282020:P698S	P	+	1	0	GRID2	94655484	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.772000	0.85439	2.529000	0.85273	0.585000	0.79938	CCT	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	protein_coding	OTTHUMT00000253588.2	C		-		94436461	1	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94436461	C	T	94436461	3	4	205	1	0	0	0	0	1	0	0	0	6774	855	30	2	2142	2	GRID2	4	94436461	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6691587	94436461	96717815	122	16643											
MTTP	4547	genome.wustl.edu	37	chr4	100515993	100515993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaaagtacacggccattCccattgtggggcaggtcttc	10	11	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:100515993C>T	ENST00000265517.5	+	7	1065	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	MTTP_ENST00000511045.1_Missense_Mutation_p.P315S|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.P288S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	288	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CACGGCCATTCCCATTGTGGG	0.448																																																	0								ENSG00000138823						115	105	108					4																	100515993		2203	4300	6503	MTTP	SO:0001583	missense	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.862C>T	4.37:g.100515993C>T	ENSP00000265517:p.Pro288Ser	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP							pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P288S	ENST00000265517.5	37	c.862	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	6.945	0.544108	0.13312	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.56776	0.44;0.44;0.44	4.96	4.12	0.48240	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (1);	0.104471	0.64402	D	0.000003	T	0.42787	0.1218	L	0.48877	1.53	0.38066	D	0.936215	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.005	T	0.35025	-0.9805	10	0.18710	T	0.47	-34.4157	10.7807	0.46376	0.0:0.8454:0.0:0.1546	.	315;288	E9PBP6;P55157	.;MTP_HUMAN	S	315;288;288;288	ENSP00000427679:P315S;ENSP00000400821:P288S;ENSP00000265517:P288S	ENSP00000265517:P288S	P	+	1	0	MTTP	100735016	1.000000	0.71417	0.988000	0.46212	0.110000	0.19582	0.792000	0.26929	1.209000	0.43321	0.563000	0.77884	CCC	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.448	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	C		-		100515993	1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	SNP	0.951	T	T	100515993	C	T	100515993	3	4	205	1	0	0	0	0	1	0	0	0	9966	855	30	2	888	2	MTTP	4	100515993	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6079532	100515993	90638283	123	16644											
FAT4	79633	genome.wustl.edu	37	chr4	126373193	126373193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattcccagccaaggtcCacagatggcacgtttgatct	9	12	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:126373193C>T	ENST00000394329.3	+	9	11035	c.11022C>T	c.(11020-11022)tcC>tcT	p.S3674S	FAT4_ENST00000335110.5_Silent_p.S1972S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3674					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						AGCCAAGGTCCACAGATGGCA	0.483																																																	0								ENSG00000196159						144	137	140					4																	126373193		2203	4300	6503	FAT4	SO:0001819	synonymous_variant	0			-	HGNC	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.11022C>T	4.37:g.126373193C>T		Somatic	0	29	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S3674	ENST00000394329.3	37	c.11022	CCDS3732.3	4																																																																																			-	superfamily_Cadherin-like		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	C	NM_024582	-		126373193	1	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	SNP	0.574	T	T	126373193	C	T	126373193	2	4	205	1	0	0	0	0	0	0	0	1	5694	581	21	2		2	FAT4	4	126373193	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	25857200	126373193	64781083	124	16645											
RNF150	57484	genome.wustl.edu	37	chr4	141847187	141847187	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgggacaggtacgatggtCtagaagccaggggtcaacac	14	9	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:141847187C>A	ENST00000515673.2	-	5	964	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RNF150_ENST00000379512.2_Missense_Mutation_p.D170Y|RNF150_ENST00000507500.1_Missense_Mutation_p.D311Y|RNF150_ENST00000306799.3_Missense_Mutation_p.D269Y|RNF150_ENST00000420921.2_Missense_Mutation_p.D170Y			Q9ULK6	RN150_HUMAN	ring finger protein 150	311						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTACGATGGTCTAGAAGCCAG	0.488																																																	0								ENSG00000170153						135	131	133					4																	141847187		2203	4300	6503	RNF150	SO:0001583	missense	0			-	HGNC	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.931G>T	4.37:g.141847187C>A	ENSP00000425840:p.Asp311Tyr	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D311Y	ENST00000515673.2	37	c.931	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958210	0.92726	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.051761	0.85682	D	0.000000	T	0.45054	0.1323	L	0.27944	0.81	0.80722	D	1	P;P;B	0.45768	0.866;0.516;0.389	P;B;B	0.48815	0.591;0.187;0.403	T	0.40496	-0.9560	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	269;311;311	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	Y	170;170;269;311;311;142	ENSP00000368827:D170Y;ENSP00000394581:D170Y;ENSP00000304321:D269Y;ENSP00000425840:D311Y;ENSP00000425568:D311Y;ENSP00000425947:D142Y	ENSP00000304321:D269Y	D	-	1	0	RNF150	142066637	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.566000	0.82347	2.824000	0.97209	0.655000	0.94253	GAC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.488	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	protein_coding	OTTHUMT00000364739.2	C	XM_291090	-		141847187	-1	no_errors	ENST00000515673	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141847187	C	A	141847187	3	1	205	1	0	0	0	0	1	0	0	0	13459	913	32	3	397	3	RNF150	4	141847187	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	15473994	141847187	49307089	125	16646											
TLR2	7097	genome.wustl.edu	37	chr4	154624787	154624787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccatttttcagaactatCcactggtgaaacaaattcat	4	9	2	2	rs547628858	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:154624787C>T	ENST00000260010.6	+	1	2136	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	243					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCAGAACTATCCACTGGTGAA	0.323																																																	0								ENSG00000137462						52	52	52					4																	154624787		2203	4299	6502	TLR2	SO:0001583	missense	0			-	HGNC	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.728C>T	4.37:g.154624787C>T	ENSP00000260010:p.Ser243Phe	Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	68	15.00	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP							pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S243F	ENST00000260010.6	37	c.728	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	C	6.712	0.500038	0.12762	.	.	ENSG00000137462	ENST00000260010	T	0.54675	0.56	5.61	3.9	0.45041	.	0.491092	0.22772	N	0.055824	T	0.39009	0.1062	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21415	-1.0246	10	0.25106	T	0.35	.	5.6505	0.17614	0.0:0.6125:0.1533:0.2342	.	243	O60603	TLR2_HUMAN	F	243	ENSP00000260010:S243F	ENSP00000260010:S243F	S	+	2	0	TLR2	154844237	0.000000	0.05858	0.003000	0.11579	0.466000	0.32739	0.527000	0.22987	0.857000	0.35407	0.655000	0.94253	TCC	-	pirsf_Toll-like_receptor		0.323	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	protein_coding	OTTHUMT00000365205.1	C		-		154624787	1	no_errors	ENST00000260010	ensembl	human	known	74_37	missense	SNP	0.002	T	T	154624787	C	T	154624787	3	4	205	1	0	0	0	0	1	0	0	0	15958	855	30	2	730	2	TLR2	4	154624787	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	12777600	154624787	36529489	126	16647											
DCHS2	54798	genome.wustl.edu	37	chr4	155156102	155156102	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccaactaagaagataattCcagtgatagttgtcttttcc	6	9	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:155156102C>T	ENST00000357232.4	-	25	8336	c.8337G>A	c.(8335-8337)tgG>tgA	p.W2779*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2779					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)		GAAGATAATTCCAGTGATAGT	0.398																																																	0								ENSG00000197410						114	112	112					4																	155156102		2203	4300	6503	DCHS2	SO:0001587	stop_gained	0			-	HGNC	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.8337G>A	4.37:g.155156102C>T	ENSP00000349768:p.Trp2779*	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W2779*	ENST00000357232.4	37	c.8337	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	49	15.519626	0.99836	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	.	.	.	X	2779	.	ENSP00000349768:W2779X	W	-	3	0	DCHS2	155375552	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	6.095000	0.71439	2.812000	0.96745	0.557000	0.71058	TGG	-	NULL		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552	-		155156102	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	155156102	C	T	155156102	4	4	205	1	0	0	0	0	0	1	0	0	4290	856	30	2	417	2	DCHS2	4	155156102	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	531315	155156102	35998174	127	16648											
SORBS2	8470	genome.wustl.edu	37	chr4	186578613	186578613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggattccggattcatccaCgggcccgatccctgggtaat	13	12	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:186578613C>T	ENST00000284776.7	-	6	741	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000431808.1_Missense_Mutation_p.V78M|SORBS2_ENST00000319471.9_Missense_Mutation_p.V164M|SORBS2_ENST00000437304.2_Missense_Mutation_p.V257M|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000449407.2_Missense_Mutation_p.V164M|SORBS2_ENST00000448662.2_Missense_Mutation_p.V147M|SORBS2_ENST00000393528.3_Missense_Mutation_p.V124M|SORBS2_ENST00000355634.5_Missense_Mutation_p.V178M	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	78	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				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)		GATTCATCCACGGGCCCGATC	0.567																																					Esophageal Squamous(153;41 2433 9491 36028)												0								ENSG00000154556						98	95	96					4																	186578613		2203	4300	6503	SORBS2	SO:0001583	missense	0			-	HGNC		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.232G>A	4.37:g.186578613C>T	ENSP00000284776:p.Val78Met	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.V78M	ENST00000284776.7	37	c.232	CCDS3845.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.012035|4.012035	0.75046|0.75046	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000438278|ENST00000284776;ENST00000448662;ENST00000431808;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343;ENST00000439914;ENST00000444771	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	4.88|4.88	4.88|4.88	0.63580|0.63580	.|Sorbin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48169|0.48169	0.1485|0.1485	L|L	0.39245|0.39245	1.2|1.2	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;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.999;0.999;1.0;0.999;0.999;0.997;0.99;0.999;0.999;0.999	T|T	0.33803|0.33803	-0.9854|-0.9854	5|10	.|0.41790	.|T	.|0.15	-22.7382|-22.7382	18.5848|18.5848	0.91185|0.91185	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;124;147;124;178;78;164;257;147;124;78;124	.|B7Z3D7;G3XAI0;C9JKV9;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.|.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	H|M	21|78;147;78;257;164;164;178;124;124;78;78;78	.|ENSP00000284776:V78M;ENSP00000409158:V147M;ENSP00000411764:V78M;ENSP00000396008:V257M;ENSP00000322182:V164M;ENSP00000397262:V164M;ENSP00000347852:V178M;ENSP00000377162:V124M;ENSP00000321983:V124M;ENSP00000399048:V78M;ENSP00000408909:V78M;ENSP00000410483:V78M	.|ENSP00000284776:V78M	R|V	-|-	2|1	0|0	SORBS2|SORBS2	186815607|186815607	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.939000|0.939000	0.58152|0.58152	7.085000|7.085000	0.76875|0.76875	2.697000|2.697000	0.92050|0.92050	0.563000|0.563000	0.77884|0.77884	CGT|GTG	-	pfam_Sorb,smart_Sorb,pfscan_Sorb		0.567	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	C	NM_003603	-		186578613	-1	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	SNP	1.000	T	T	186578613	C	T	186578613	3	4	205	1	0	0	0	0	1	0	0	0	14936	536	19	1	3474	1	SORBS2	4	186578613	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	31422511	186578613	4575663	128	16649											
FAT1	2195	genome.wustl.edu	37	chr4	187541765	187541765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaatgtttcggcctcggtgGaattctctttcactaccgca	8	12	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr4:187541765G>A	ENST00000441802.2	-	10	6184	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1992	Cadherin 18. {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						GGCCTCGGTGGAATTCTCTTT	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						220	220	220					4																	187541765		1861	4102	5963	FAT1	SO:0001583	missense	0			-	HGNC	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.5975C>T	4.37:g.187541765G>A	ENSP00000406229:p.Ser1992Phe	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	59	21.33		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S1992F	ENST00000441802.2	37	c.5975	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897372	0.17686	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01821	4.62	5.26	5.26	0.73747	Cadherin (3);Cadherin-like (1);	0.114186	0.64402	D	0.000006	T	0.05227	0.0139	M	0.80982	2.52	0.54753	D	0.999987	B	0.12013	0.005	B	0.18871	0.023	T	0.19289	-1.0310	10	0.56958	D	0.05	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	1992	Q14517	FAT1_HUMAN	F	1992;1994	ENSP00000406229:S1992F	ENSP00000260147:S1994F	S	-	2	0	FAT1	187778759	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	6.451000	0.73481	2.740000	0.93945	0.561000	0.74099	TCC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187541765	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	A	A	187541765	G	A	187541765	3	1	205	1	0	0	0	0	1	0	0	0	5691	1174	41	2	7863	2	FAT1	4	187541765	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	963152	187541765	3612511	129	16650											
SLC12A7	10723	genome.wustl.edu	37	chr5	1081838	1081838	+	Frame_Shift_Del	DEL	G	G	-													ccacaaacgcccccgcgtgcGcgtacgtactccacaggttc					rs376127373		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:1081838delG	ENST00000264930.5	-	9	1194	c.1151delC	c.(1150-1152)gcgfs	p.A384fs		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	384					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCCGCGTGCGCGTACGTACT	0.672																																																	0								ENSG00000113504						66	65	65					5																	1081838		2201	4300	6501	SLC12A7	SO:0001589	frameshift_variant	0				HGNC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1151delC	5.37:g.1081838delG	ENSP00000264930:p.Ala384fs	Somatic	0	81	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	71	16.47	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Frame_Shift_Del	DEL							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A384fs	ENST00000264930.5	37	c.1151	CCDS34129.1	5																																																																																			-	tigrfam_Na/K/Cl_cotransptS		0.672	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	protein_coding	OTTHUMT00000366446.2	G	NM_006598			1081838	-1	no_errors	ENST00000264930	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	1081838	G	-	1081838	7	5	205	1	0	1	0	1	0	0	0	0	14396	1087	38	0	2164	0	SLC12A7	5	1081838	Frame_Shift_Del	DEL	G	TCGA-QQ-A8VG-01A-11D-A37C-09		1081838	179833422	130	16651	479	3									
SLC12A7	10723	genome.wustl.edu	37	chr5	1081840	1081840	+	Silent	SNP	G	G	A													acaaacgcccccgcgtgcgcGtacgtactccacaggttctc					rs199523332		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:1081840G>A	ENST00000264930.5	-	9	1192	c.1149C>T	c.(1147-1149)taC>taT	p.Y383Y		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	383					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCGCGTGCGCGTACGTACTCC	0.667																																																	0								ENSG00000113504	G		0,4402		0,0,2201	64	63	63		1149	-6.4	0	5		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		383/1084	1081840	1,13001	2201	4300	6501	SLC12A7	SO:0001819	synonymous_variant	0			-	HGNC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1149C>T	5.37:g.1081840G>A		Somatic	0	82	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	68	17.07	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Y383	ENST00000264930.5	37	c.1149	CCDS34129.1	5																																																																																			-	tigrfam_Na/K/Cl_cotransptS		0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	protein_coding	OTTHUMT00000366446.2	G	NM_006598	rs199523332		1081840	-1	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	SNP	0.001	A	A	1081840	G	A	1081840	2	1	205	1	0	0	0	0	0	0	0	1	14396	1140	40	1		1	SLC12A7	5	1081840	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2	1081840	179833420	131	16652	479	3									
SLC12A7	10723	genome.wustl.edu	37	chr5	1081841	1081841	+	Missense_Mutation	SNP	T	T	G													caaacgcccccgcgtgcgcgTacgtactccacaggttctct							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:1081841T>G	ENST00000264930.5	-	9	1191	c.1148A>C	c.(1147-1149)tAc>tCc	p.Y383S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	383					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGCGTGCGCGTACGTACTCCA	0.667																																																	0								ENSG00000113504						64	63	63					5																	1081841		2201	4300	6501	SLC12A7	SO:0001583	missense	0			-	HGNC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1148A>C	5.37:g.1081841T>G	ENSP00000264930:p.Tyr383Ser	Somatic	0	81	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	66	17.50	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Y383S	ENST00000264930.5	37	c.1148	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636736	0.67130	.	.	ENSG00000113504	ENST00000264930	T	0.70516	-0.49	4.09	4.09	0.47781	.	0.065439	0.64402	N	0.000005	D	0.83496	0.5267	M	0.88181	2.935	0.58432	D	0.999999	D	0.64830	0.994	P	0.61275	0.886	D	0.86258	0.1653	10	0.66056	D	0.02	.	11.8858	0.52602	0.0:0.0:0.0:1.0	.	383	Q9Y666	S12A7_HUMAN	S	383	ENSP00000264930:Y383S	ENSP00000264930:Y383S	Y	-	2	0	SLC12A7	1134841	1.000000	0.71417	0.006000	0.13384	0.044000	0.14063	7.172000	0.77604	1.497000	0.48584	0.402000	0.26972	TAC	-	tigrfam_Na/K/Cl_cotransptS		0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	protein_coding	OTTHUMT00000366446.2	T	NM_006598	-		1081841	-1	no_errors	ENST00000264930	ensembl	human	known	74_37	missense	SNP	0.903	G	G	1081841	T	G	1081841	3	3	205	1	0	0	0	0	1	0	0	0	14396	1638	57	5	2167	5	SLC12A7	5	1081841	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	1	1081841	179833419	132	16653	479	3									
CTNND2	1501	genome.wustl.edu	37	chr5	11023048	11023048	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtgttgttgctgttgttCcctcctggaagcctgtggac	13	10	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:11023048C>T	ENST00000304623.8	-	17	3021	c.2832G>A	c.(2830-2832)ggG>ggA	p.G944G	CTNND2_ENST00000458100.2_Silent_p.G511G|CTNND2_ENST00000503622.1_Silent_p.G607G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.G853G|CTNND2_ENST00000359640.2_Silent_p.G886G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	944					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTTGTTCCCTCCTGGAA	0.493																																																	0								ENSG00000169862						213	162	179					5																	11023048		2203	4300	6503	CTNND2	SO:0001819	synonymous_variant	0			-	HGNC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2832G>A	5.37:g.11023048C>T		Somatic	0	74	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	99	11.61	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP							pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G944	ENST00000304623.8	37	c.2832	CCDS3881.1	5																																																																																			-	superfamily_ARM-type_fold		0.493	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	C	NM_001332	-		11023048	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	SNP	0.971	T	T	11023048	C	T	11023048	2	4	205	1	0	0	0	0	0	0	0	1	4022	842	30	2		2	CTNND2	5	11023048	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	9941207	11023048	169892212	133	16654											
CDH9	1007	genome.wustl.edu	37	chr5	26885786	26885786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctcaggccggctgaaaGgatcagggcttctgcggtgc	16	11	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:26885786G>A	ENST00000231021.4	-	11	1991	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	607	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGGCTGAAAGGATCAGGGCT	0.502																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						82	68	73					5																	26885786		2203	4300	6503	CDH9	SO:0001583	missense	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1819C>T	5.37:g.26885786G>A	ENSP00000231021:p.Leu607Phe	Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	Q3B7I5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L607F	ENST00000231021.4	37	c.1819	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931030	0.34096	.	.	ENSG00000113100	ENST00000231021	T	0.56275	0.47	5.89	5.89	0.94794	.	0.249277	0.41097	D	0.000947	T	0.41213	0.1149	L	0.35542	1.07	0.39753	D	0.971916	B;B	0.17465	0.004;0.022	B;B	0.19666	0.019;0.026	T	0.26538	-1.0100	9	.	.	.	.	12.1795	0.54204	0.0781:0.0:0.9219:0.0	.	200;607	B4DFP0;Q9ULB4	.;CADH9_HUMAN	F	607	ENSP00000231021:L607F	.	L	-	1	0	CDH9	26921543	1.000000	0.71417	0.272000	0.24630	0.534000	0.34807	3.834000	0.55798	2.797000	0.96272	0.563000	0.77884	CTT	-	NULL		0.502	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	G	NM_016279	-		26885786	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26885786	G	A	26885786	3	1	205	1	0	0	0	0	1	0	0	0	3119	1000	35	2	558	2	CDH9	5	26885786	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	15862738	26885786	154029474	134	16655											
GOLPH3	64083	genome.wustl.edu	37	chr5	32126496	32126496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcatgagccaggtaaAtgagggccagcaagcgcctg	15	11	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:32126496A>T	ENST00000265070.6	-	4	1034	c.719T>A	c.(718-720)aTt>aAt	p.I240N	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	240					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						AGCCAGGTAAATGAGGGCCAG	0.527																																																	0								ENSG00000113384						145	127	133					5																	32126496		2203	4300	6503	GOLPH3	SO:0001583	missense	0			-	HGNC	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.719T>A	5.37:g.32126496A>T	ENSP00000265070:p.Ile240Asn	Somatic	0	123	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	143	13.33	Q9UIW5	Missense_Mutation	SNP							pfam_GPP34	p.I240N	ENST00000265070.6	37	c.719	CCDS3896.1	5	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797799	0.31777	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	5.02	0.67125	.	0.044892	0.85682	D	0.000000	T	0.80232	0.4585	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82760	-0.0298	9	0.87932	D	0	-4.8608	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	240	Q9H4A6	GOLP3_HUMAN	N	240;223	.	ENSP00000265070:I240N	I	-	2	0	GOLPH3	32162253	1.000000	0.71417	0.867000	0.34043	0.001000	0.01503	8.904000	0.92590	1.161000	0.42604	-0.250000	0.11733	ATT	-	pfam_GPP34		0.527	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	protein_coding	OTTHUMT00000207363.2	A	NM_022130	-		32126496	-1	no_errors	ENST00000265070	ensembl	human	known	74_37	missense	SNP	0.999	T	T	32126496	A	T	32126496	3	4	205	1	0	0	0	0	1	0	0	0	6570	101	4	5	181	5	GOLPH3	5	32126496	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	5240710	32126496	148788764	135	16656											
C9	735	genome.wustl.edu	37	chr5	39315915	39315915	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaaatagttggtaagtttCatttttggaatatgaaaacc	7	4	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:39315915C>T	ENST00000263408.4	-	6	927	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	278	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGTAAGTTTCATTTTTGGAA	0.338																																																	0								ENSG00000113600						68	69	69					5																	39315915		2203	4300	6503	C9	SO:0001583	missense	0			-	HGNC		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.832G>A	5.37:g.39315915C>T	ENSP00000263408:p.Glu278Lys	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	57	12.31		Missense_Mutation	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.E278K	ENST00000263408.4	37	c.832	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812765	0.32053	.	.	ENSG00000113600	ENST00000263408	D	0.83914	-1.78	4.57	0.367	0.16140	Membrane attack complex component/perforin (MACPF) domain (2);	0.903874	0.09510	N	0.792392	T	0.68869	0.3048	L	0.38531	1.155	0.09310	N	1	B	0.21071	0.051	B	0.19946	0.027	T	0.50923	-0.8770	10	0.07644	T	0.81	-21.4696	4.5591	0.12151	0.0:0.3904:0.1614:0.4482	.	278	P02748	CO9_HUMAN	K	278	ENSP00000263408:E278K	ENSP00000263408:E278K	E	-	1	0	C9	39351672	0.000000	0.05858	0.030000	0.17652	0.471000	0.32888	0.082000	0.14847	0.231000	0.21079	0.655000	0.94253	GAA	-	pfam_MACPF		0.338	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	protein_coding	OTTHUMT00000211576.3	C		-		39315915	-1	no_errors	ENST00000263408	ensembl	human	known	74_37	missense	SNP	0.011	T	T	39315915	C	T	39315915	3	4	205	1	0	0	0	0	1	0	0	0	2445	835	29	2	871	2	C9	5	39315915	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7189419	39315915	141599345	136	16657											
C7	730	genome.wustl.edu	37	chr5	40947843	40947843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatgactacagtgcctaccGaagattaatcgaccagtacg	9	10	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:40947843G>A	ENST00000313164.9	+	8	1237	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	293	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)				AGTGCCTACCGAAGATTAATC	0.413																																																	0								ENSG00000112936						90	86	87					5																	40947843		1839	4091	5930	C7	SO:0001583	missense	0			-	HGNC	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.878G>A	5.37:g.40947843G>A	ENSP00000322061:p.Arg293Gln	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q6P3T5|Q92489	Missense_Mutation	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R293Q	ENST00000313164.9	37	c.878	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549069	0.86127	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.84873	-1.91	5.9	5.9	0.94986	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	M	0.84326	2.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93136	0.6537	10	0.62326	D	0.03	-13.7453	18.4666	0.90758	0.0:0.0:1.0:0.0	.	293	P10643	CO7_HUMAN	Q	293	ENSP00000322061:R293Q	ENSP00000322061:R293Q	R	+	2	0	C7	40983600	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.833000	0.86765	2.786000	0.95864	0.650000	0.86243	CGA	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	protein_coding	OTTHUMT00000317680.1	G		-		40947843	1	no_errors	ENST00000313164	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40947843	G	A	40947843	3	1	205	1	0	0	0	0	1	0	0	0	2377	1058	37	1	908	1	C7	5	40947843	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1631928	40947843	139967417	137	16658											
C6	729	genome.wustl.edu	37	chr5	41176764	41176764	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgcagatctttagctttCgttgtgaagtttaagacttt	10	5	1	3	rs146851023		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:41176764C>T	ENST00000263413.3	-	8	1245	c.981G>A	c.(979-981)acG>acA	p.T327T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T327T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	327	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)		p.T327T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTAGCTTTCGTTGTGAAGT	0.338																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000039537	C	,	2,4404	2.1+/-5.4	0,2,2201	109	111	110		981,981	5.7	1	5	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C6	NM_000065.2,NM_001115131.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	327/935,327/935	41176764	2,13004	2203	4300	6503	C6	SO:0001819	synonymous_variant	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.981G>A	5.37:g.41176764C>T		Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44		Silent	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.T327	ENST00000263413.3	37	c.981	CCDS3936.1	5																																																																																			-	pfam_MACPF,smart_MACPF		0.338	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	C		rs146851023		41176764	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	silent	SNP	1.000	T	T	41176764	C	T	41176764	2	4	205	1	0	0	0	0	0	0	0	1	2317	871	31	1		1	C6	5	41176764	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	228921	41176764	139738496	138	16659											
GZMK	3003	genome.wustl.edu	37	chr5	54327291	54327291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcaaggttactggctggGgagccaccgatccagattca	12	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:54327291G>A	ENST00000231009.2	+	4	533	c.463G>A	c.(463-465)Gga>Aga	p.G155R	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TACTGGCTGGGGAGCCACCGA	0.443																																																	0								ENSG00000113088						86	89	88					5																	54327291		2203	4300	6503	GZMK	SO:0001583	missense	0			-	HGNC	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.463G>A	5.37:g.54327291G>A	ENSP00000231009:p.Gly155Arg	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	58	23.68	B2R563	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G155R	ENST00000231009.2	37	c.463	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998501	0.74818	.	.	ENSG00000113088	ENST00000231009	D	0.94000	-3.33	5.16	4.29	0.51040	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.064055	0.64402	D	0.000007	D	0.98182	0.9399	H	0.99600	4.65	0.47511	D	0.999441	D	0.89917	1.0	D	0.97110	1.0	D	0.98528	1.0626	10	0.87932	D	0	.	12.714	0.57105	0.0807:0.0:0.9193:0.0	.	155	P49863	GRAK_HUMAN	R	155	ENSP00000231009:G155R	ENSP00000231009:G155R	G	+	1	0	GZMK	54363048	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	5.517000	0.67061	1.411000	0.46957	0.655000	0.94253	GGA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.443	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	protein_coding	OTTHUMT00000214098.1	G	NM_002104	-		54327291	1	no_errors	ENST00000231009	ensembl	human	known	74_37	missense	SNP	1.000	A	A	54327291	G	A	54327291	3	1	205	1	0	0	0	0	1	0	0	0	6920	1233	43	2	477	2	GZMK	5	54327291	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	13150527	54327291	126587969	139	16660											
PPWD1	23398	genome.wustl.edu	37	chr5	64867822	64867823	+	Frame_Shift_Ins	INS	-	-	A													aactccatacatcacctcttINSactcagatacggctaaaccc							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:64867822_64867823insA	ENST00000261308.5	+	5	750_751	c.678_679insA	c.(679-681)actfs	p.T227fs	PPWD1_ENST00000538977.1_Frame_Shift_Ins_p.T71fs|PPWD1_ENST00000535264.1_Frame_Shift_Ins_p.T197fs	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	227					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)		CATCACCTCTTACTCAGATACG	0.406																																																	0								ENSG00000113593																																			PPWD1	SO:0001589	frameshift_variant	0				HGNC	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.679dupA	5.37:g.64867823_64867823dupA	ENSP00000261308:p.Thr227fs	Somatic	0	59	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	50	12.28	B4DWR9|Q15002|Q7KZ89	Frame_Shift_Ins	INS							pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T226fs	ENST00000261308.5	37	c.678_679	CCDS3985.1	5																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.406	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	protein_coding	OTTHUMT00000253970.2	-	NM_015342			64867823	1	no_errors	ENST00000261308	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	64867823	-	A	64867822	7	5	205	1	0	1	1	0	0	0	0	0	12419	1741	61	0	696	0	PPWD1	5	64867822	Frame_Shift_Ins	INS	-	TCGA-QQ-A8VG-01A-11D-A37C-09	10540531	64867822	116047438	140	16661											
TNPO1	3842	genome.wustl.edu	37	chr5	72171473	72171473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagctggtgatgaagaacCagaggtacggaaaaatgtgt	13	4	0	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:72171473C>T	ENST00000337273.5	+	8	1136	c.710C>T	c.(709-711)cCa>cTa	p.P237L	TNPO1_ENST00000523768.1_Missense_Mutation_p.P187L|TNPO1_ENST00000454282.1_Missense_Mutation_p.P187L|MIR4804_ENST00000581683.1_RNA|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000506351.2_Missense_Mutation_p.P229L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	237					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GATGAAGAACCAGAGGTACGG	0.398																																																	0								ENSG00000083312						102	101	102					5																	72171473		2203	4300	6503	TNPO1	SO:0001583	missense	0			-	HGNC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.710C>T	5.37:g.72171473C>T	ENSP00000336712:p.Pro237Leu	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.57	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP							pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P237L	ENST00000337273.5	37	c.710	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893194	0.72524	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.84	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.049125	0.85682	D	0.000000	T	0.69333	0.3099	M	0.73319	2.225	0.80722	D	1	B;B	0.17667	0.023;0.017	B;B	0.23852	0.049;0.014	T	0.69745	-0.5062	10	0.66056	D	0.02	-4.6034	18.3092	0.90193	0.0:1.0:0.0:0.0	.	187;237	Q92973-3;Q92973	.;TNPO1_HUMAN	L	237;187;187;229	ENSP00000336712:P237L;ENSP00000398524:P187L;ENSP00000428899:P187L;ENSP00000425118:P229L	ENSP00000336712:P237L	P	+	2	0	TNPO1	72207229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.395000	0.81488	0.585000	0.79938	CCA	-	pfam_HEAT,superfamily_ARM-type_fold		0.398	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	protein_coding	OTTHUMT00000218577.3	C	NM_002270	-		72171473	1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72171473	C	T	72171473	3	4	205	1	0	0	0	0	1	0	0	0	16342	594	21	2	740	2	TNPO1	5	72171473	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7303651	72171473	108743787	141	16662											
BHMT2	23743	genome.wustl.edu	37	chr5	78373369	78373369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagctttctcattactctgGagaagagaggctatgtgaag	12	7	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:78373369G>A	ENST00000255192.3	+	2	166	c.100G>A	c.(100-102)Gag>Aag	p.E34K	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.E34K	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	34	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CATTACTCTGGAGAAGAGAGG	0.527																																																	0								ENSG00000132840						146	146	146					5																	78373369		2203	4300	6503	BHMT2	SO:0001583	missense	0			-	HGNC		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.100G>A	5.37:g.78373369G>A	ENSP00000255192:p.Glu34Lys	Somatic	0	67	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	B7Z516|Q9NXX7	Missense_Mutation	SNP							pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.E34K	ENST00000255192.3	37	c.100	CCDS4045.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499226	0.85069	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.12039	2.72;2.72	4.83	4.83	0.62350	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	M	0.91663	3.23	0.37862	D	0.929756	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.64960	-0.6284	10	0.66056	D	0.02	-22.3212	17.9262	0.88983	0.0:0.0:1.0:0.0	.	34;34	B7Z516;Q9H2M3	.;BHMT2_HUMAN	K	34	ENSP00000255192:E34K;ENSP00000430278:E34K	ENSP00000255192:E34K	E	+	1	0	BHMT2	78409125	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.444000	0.97578	2.226000	0.72624	0.557000	0.71058	GAG	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase		0.527	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT2	protein_coding	OTTHUMT00000226962.2	G	NM_017614	-		78373369	1	no_errors	ENST00000255192	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78373369	G	A	78373369	3	1	205	1	0	0	0	0	1	0	0	0	1426	1175	41	2	106	2	BHMT2	5	78373369	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	6201896	78373369	102541891	142	16663											
GPR98	84059	genome.wustl.edu	37	chr5	90052412	90052412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatgatagaagaaaatgacGatcccagaggaatttttatg	9	4	0	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:90052412G>A	ENST00000405460.2	+	56	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3908	Calx-beta 26. {ECO:0000255}.				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)			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)		AGAAAATGACGATCCCAGAGG	0.443																																																	0								ENSG00000164199						80	77	78					5																	90052412		1886	4107	5993	GPR98	SO:0001583	missense	0			-	HGNC	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.11722G>A	5.37:g.90052412G>A	ENSP00000384582:p.Asp3908Asn	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D3908N	ENST00000405460.2	37	c.11722	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880361	0.91740	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.37915	1.17	5.82	5.82	0.92795	Na-Ca exchanger/integrin-beta4 (1);	0.042722	0.85682	D	0.000000	T	0.57504	0.2058	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.64506	0.797;0.926	T	0.47736	-0.9094	10	0.32370	T	0.25	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	3908;3908	E7ETI5;Q8WXG9	.;GPR98_HUMAN	N	3908	ENSP00000384582:D3908N	ENSP00000296619:D3908N	D	+	1	0	GPR98	90088168	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	9.008000	0.93601	2.753000	0.94483	0.467000	0.42956	GAT	-	smart_Calx_beta		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		90052412	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90052412	G	A	90052412	3	1	205	1	0	0	0	0	1	0	0	0	6723	1058	37	1	11944	1	GPR98	5	90052412	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	11679043	90052412	90862848	143	16664											
LIX1	167410	genome.wustl.edu	37	chr5	96443162	96443162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagttgatcagggccaCtttagctgcatcccgcctgg	14	11	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:96443162C>T	ENST00000274382.4	-	3	584	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	97										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ATCAGGGCCACTTTAGCTGCA	0.502																																																	0								ENSG00000145721						111	101	104					5																	96443162		2203	4300	6503	LIX1	SO:0001583	missense	0			-	HGNC		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.289G>A	5.37:g.96443162C>T	ENSP00000274382:p.Val97Met	Somatic	0	79	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	82	15.46	A8K4R9|Q8N7I2	Missense_Mutation	SNP							NULL	p.V97M	ENST00000274382.4	37	c.289	CCDS4088.1	5	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739778	0.89573	.	.	ENSG00000145721	ENST00000274382	T	0.55234	0.53	6.17	6.17	0.99709	.	0.053976	0.85682	D	0.000000	T	0.68595	0.3018	L	0.50333	1.59	0.58432	D	0.999993	D	0.65815	0.995	D	0.63877	0.919	T	0.67632	-0.5621	10	0.87932	D	0	-28.7501	20.4745	0.99168	0.0:1.0:0.0:0.0	.	97	Q8N485	LIX1_HUMAN	M	97	ENSP00000274382:V97M	ENSP00000274382:V97M	V	-	1	0	LIX1	96468918	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.048000	0.41278	2.941000	0.99782	0.655000	0.94253	GTG	-	NULL		0.502	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	protein_coding	OTTHUMT00000250625.1	C	NM_153234	-		96443162	-1	no_errors	ENST00000274382	ensembl	human	known	74_37	missense	SNP	1.000	T	T	96443162	C	T	96443162	3	4	205	1	0	0	0	0	1	0	0	0	8833	565	20	2	575	2	LIX1	5	96443162	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6390750	96443162	84472098	144	16665											
WDR36	134430	genome.wustl.edu	37	chr5	110448791	110448791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcttttagtcctgatggtCgttggttaataagtgctgcg	13	6	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:110448791C>T	ENST00000513710.2	+	16	1907	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	WDR36_ENST00000506538.2_Missense_Mutation_p.R635C			Q8NI36	WDR36_HUMAN	WD repeat domain 36	635					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCTGATGGTCGTTGGTTAAT	0.274																																																	0								ENSG00000134987						146	138	141					5																	110448791		2202	4300	6502	WDR36	SO:0001583	missense	0			-	HGNC	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1903C>T	5.37:g.110448791C>T	ENSP00000424628:p.Arg635Cys	Somatic	0	99	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	104	18.75	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP							pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R635C	ENST00000513710.2	37	c.1903	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984511	0.93044	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.60299	0.2;0.2	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80188	-0.1486	10	0.87932	D	0	-17.7885	20.6397	0.99537	0.0:1.0:0.0:0.0	.	635	Q8NI36	WDR36_HUMAN	C	635	ENSP00000423067:R635C;ENSP00000424628:R635C	ENSP00000423067:R635C	R	+	1	0	WDR36	110476690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.762000	0.68809	2.880000	0.98712	0.650000	0.86243	CGT	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.274	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	protein_coding	OTTHUMT00000373504.3	C	NM_139281	-		110448791	1	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110448791	C	T	110448791	3	4	205	1	0	0	0	0	1	0	0	0	17297	884	31	1	1965	1	WDR36	5	110448791	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	14005629	110448791	70466469	145	16666											
MEGF10	84466	genome.wustl.edu	37	chr5	126732295	126732295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggggctctgtgcaacCccatcaccggggcttgccac	11	14	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:126732295C>T	ENST00000274473.6	+	7	751	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	MEGF10_ENST00000508365.1_Missense_Mutation_p.P162S|MEGF10_ENST00000503335.2_Missense_Mutation_p.P162S|MEGF10_ENST00000418761.2_Missense_Mutation_p.P162S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	162	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|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)		TCTGTGCAACCCCATCACCGG	0.607																																																	0								ENSG00000145794						59	66	63					5																	126732295		2201	4298	6499	MEGF10	SO:0001583	missense	0			-	HGNC	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.484C>T	5.37:g.126732295C>T	ENSP00000274473:p.Pro162Ser	Somatic	0	106	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	103	24.26	Q68DE5|Q8WUL3	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.P162S	ENST00000274473.6	37	c.484	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.458377	0.96240	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.56	5.56	0.83823	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.73806	0.3634	M	0.73962	2.25	0.80722	D	1	P;D	0.89917	0.863;1.0	P;D	0.97110	0.8;1.0	T	0.72944	-0.4138	10	0.44086	T	0.13	-16.8581	19.532	0.95232	0.0:1.0:0.0:0.0	.	162;162	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	S	162	ENSP00000423354:P162S;ENSP00000423195:P162S;ENSP00000416284:P162S;ENSP00000274473:P162S	ENSP00000274473:P162S	P	+	1	0	MEGF10	126760194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.621000	0.88768	0.655000	0.94253	CCC	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom		0.607	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	protein_coding	OTTHUMT00000250973.2	C	NM_032446	-		126732295	1	no_errors	ENST00000274473	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126732295	C	T	126732295	3	4	205	1	0	0	0	0	1	0	0	0	9462	623	22	2	502	2	MEGF10	5	126732295	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	16283504	126732295	54182965	146	16667											
PCDHA1	56147	genome.wustl.edu	37	chr5	140165938	140165938	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctttggcttctgctcctCgcagcctgggaggtggggag	15	11	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:140165938C>T	ENST00000504120.2	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA1_ENST00000394633.3_Silent_p.L21L|PCDHA1_ENST00000378133.3_Silent_p.L21L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	21					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)			TTCTGCTCCTCGCAGCCTGGG	0.597																																																	0								ENSG00000204970						54	67	63					5																	140165938		2203	4300	6503	PCDHA1	SO:0001819	synonymous_variant	0			-	HGNC	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.63C>T	5.37:g.140165938C>T		Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	74	17.78	O75288|Q9NRT7	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L21	ENST00000504120.2	37	c.63	CCDS54913.1	5																																																																																			-	NULL		0.597	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	C	NM_018900	-		140165938	1	no_errors	ENST00000504120	ensembl	human	known	74_37	silent	SNP	0.000	T	T	140165938	C	T	140165938	2	4	205	1	0	0	0	0	0	0	0	1	11521	871	31	1		1	PCDHA1	5	140165938	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	13433643	140165938	40749322	147	16668											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188055	140188055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctggtggtgaccgcgcGagacgggggctcgccttcgc	18	12	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:140188055G>A	ENST00000530339.1	+	1	1283	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	PCDHA4_ENST00000512229.2_Missense_Mutation_p.R428Q|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R428Q	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	428	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)			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)			GTGACCGCGCGAGACGGGGGC	0.617																																																	0								ENSG00000204967						113	113	113					5																	140188055		2203	4300	6503	PCDHA4	SO:0001583	missense	0			-	HGNC	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.1283G>A	5.37:g.140188055G>A	ENSP00000435300:p.Arg428Gln	Somatic	0	95	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	152	16.94	O75285|Q2M253	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R428Q	ENST00000530339.1	37	c.1283	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	9.602	1.128935	0.21041	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52754	0.65;0.65;0.65	4.5	1.73	0.24493	Cadherin (5);Cadherin-like (1);	0.532290	0.13534	N	0.380741	T	0.24084	0.0583	N	0.17248	0.465	0.09310	N	1	B;P;P	0.36789	0.362;0.57;0.57	B;B;B	0.30251	0.072;0.113;0.1	T	0.09015	-1.0694	10	0.40728	T	0.16	.	4.48	0.11762	0.4567:0.0:0.3951:0.1482	.	428;428;428	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	Q	428	ENSP00000423470:R428Q;ENSP00000349344:R428Q;ENSP00000435300:R428Q	ENSP00000349344:R428Q	R	+	2	0	PCDHA4	140168239	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-0.995000	0.03712	0.138000	0.18790	-0.210000	0.12710	CGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.617	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	G	NM_018907	-		140188055	1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	SNP	0.000	A	A	140188055	G	A	140188055	3	1	205	1	0	0	0	0	1	0	0	0	11528	1058	37	1	1285	1	PCDHA4	5	140188055	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	22117	140188055	40727205	148	16669											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221013	140221013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctccactactccgtccCcgaggaggccaaacacggca	9	18	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:140221013C>T	ENST00000531613.1	+	1	107	c.107C>T	c.(106-108)cCc>cTc	p.P36L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P36L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	36	Cadherin 1. {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)			TACTCCGTCCCCGAGGAGGCC	0.667																																																	0								ENSG00000204962						51	56	54					5																	140221013		2203	4299	6502	PCDHA8	SO:0001583	missense	0			-	HGNC	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.107C>T	5.37:g.140221013C>T	ENSP00000434655:p.Pro36Leu	Somatic	0	93	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	102	18.40	B9EGT7|O75281	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P36L	ENST00000531613.1	37	c.107	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761384	0.15914	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.39229	1.09;1.09	3.95	0.945	0.19543	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.221355	0.22360	U	0.061087	T	0.32852	0.0843	L	0.49778	1.585	0.09310	N	1	B;B	0.20261	0.003;0.043	B;B	0.21151	0.01;0.033	T	0.24083	-1.0170	10	0.46703	T	0.11	.	7.3397	0.26630	0.0:0.6919:0.14:0.1681	.	36;36	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	36	ENSP00000434655:P36L;ENSP00000367363:P36L	ENSP00000367363:P36L	P	+	2	0	PCDHA8	140201197	0.000000	0.05858	0.003000	0.11579	0.171000	0.22731	1.064000	0.30579	0.236000	0.21180	0.557000	0.71058	CCC	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	C	NM_018911	-		140221013	1	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	SNP	0.019	T	T	140221013	C	T	140221013	3	4	205	1	0	0	0	0	1	0	0	0	11532	623	22	2	109	2	PCDHA8	5	140221013	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	32958	140221013	40694247	149	16670											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140348244	140348244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagacttctgacctggaCctctttaaggtagagctgca	10	12	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:140348244C>T	ENST00000289269.5	+	1	2425	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	631	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(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCTGGACCTCTTTAAGG	0.502																																					Melanoma(190;638 2083 3390 11909 52360)												0								ENSG00000243232						66	65	65					5																	140348244		2203	4300	6503	PCDHAC2	SO:0001819	synonymous_variant	0			-	HGNC	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1893C>T	5.37:g.140348244C>T		Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	31.15	Q2M3V1|Q9Y5F4	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D631	ENST00000289269.5	37	c.1893	CCDS4242.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	protein_coding	OTTHUMT00000251802.2	C	NM_018899	-		140348244	1	no_errors	ENST00000289269	ensembl	human	known	74_37	silent	SNP	1.000	T	T	140348244	C	T	140348244	2	4	205	1	0	0	0	0	0	0	0	1	11535	506	18	2		2	PCDHAC2	5	140348244	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	127231	140348244	40567016	150	16671											
PCDHB2	56133	genome.wustl.edu	37	chr5	140474915	140474915	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagtcccaatttccactttCatcttaatttacaagacagt	3	11	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:140474915C>T	ENST00000194155.4	+	1	689	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	181	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(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCCACTTTCATCTTAATTT	0.448																																																	0								ENSG00000112852						30	32	31					5																	140474915		2203	4300	6503	PCDHB2	SO:0001583	missense	0			-	HGNC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.541C>T	5.37:g.140474915C>T	ENSP00000194155:p.His181Tyr	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	Q4KMU1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H181Y	ENST00000194155.4	37	c.541	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	C	3.965	-0.009442	0.07727	.	.	ENSG00000112852	ENST00000194155	T	0.59224	0.28	5.32	5.32	0.75619	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45875	0.1364	L	0.35487	1.065	0.09310	N	1	B	0.16396	0.017	B	0.23852	0.049	T	0.26155	-1.0111	9	0.45353	T	0.12	.	7.1005	0.25333	0.2901:0.6293:0.0:0.0806	.	181	Q9Y5E7	PCDB2_HUMAN	Y	181	ENSP00000194155:H181Y	ENSP00000194155:H181Y	H	+	1	0	PCDHB2	140455099	0.000000	0.05858	0.999000	0.59377	0.260000	0.26232	-1.368000	0.02580	2.648000	0.89879	0.655000	0.94253	CAT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	C	NM_018936	-		140474915	1	no_errors	ENST00000194155	ensembl	human	known	74_37	missense	SNP	0.022	T	T	140474915	C	T	140474915	3	4	205	1	0	0	0	0	1	0	0	0	11544	826	29	2	543	2	PCDHB2	5	140474915	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	126671	140474915	40440345	151	16672											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595022	140595022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatgaccgtgctgatcgccGatgtcaatgacaacgctccc	9	13	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:140595022G>A	ENST00000341948.4	+	1	1514	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	443	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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGATCGCCGATGTCAATGA	0.552																																																	0								ENSG00000187372						154	137	143					5																	140595022		2203	4300	6503	PCDHB13	SO:0001583	missense	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1327G>A	5.37:g.140595022G>A	ENSP00000345491:p.Asp443Asn	Somatic	0	141	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	147	17.88	A8K9V6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D443N	ENST00000341948.4	37	c.1327	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	N	28.6	4.936319	0.92458	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.67698	-0.28	3.5	3.5	0.40072	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85522	0.5716	M	0.93283	3.4	0.48511	D	0.999664	D	0.89917	1.0	D	0.97110	1.0	D	0.90040	0.4141	9	0.87932	D	0	.	15.0196	0.71621	0.0:0.0:1.0:0.0	.	443	Q9Y5F0	PCDBD_HUMAN	N	443	ENSP00000345491:D443N	ENSP00000345491:D443N	D	+	1	0	PCDHB13	140575206	1.000000	0.71417	0.772000	0.31596	0.132000	0.20833	7.889000	0.87307	1.671000	0.50874	0.298000	0.19748	GAT	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	G	NM_018933	-		140595022	1	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140595022	G	A	140595022	3	1	205	1	0	0	0	0	1	0	0	0	11540	1058	37	1	1329	1	PCDHB13	5	140595022	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	120107	140595022	40320238	152	16673											
GEMIN5	25929	genome.wustl.edu	37	chr5	154305483	154305483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcatagttgttctttatgGagagtgtattccatacacgg	9	7	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:154305483G>A	ENST00000285873.7	-	8	1307	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	411					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTCTTTATGGAGAGTGTATT	0.423																																																	0								ENSG00000082516						87	85	86					5																	154305483		2203	4300	6503	GEMIN5	SO:0001583	missense	0			-	HGNC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1232C>T	5.37:g.154305483G>A	ENSP00000285873:p.Ser411Phe	Somatic	0	22	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S411F	ENST00000285873.7	37	c.1232	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987635	0.93106	.	.	ENSG00000082516	ENST00000285873	T	0.73047	-0.71	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058498	0.64402	D	0.000001	D	0.86682	0.5991	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.86731	0.1948	10	0.87932	D	0	-15.5731	20.8794	0.99867	0.0:0.0:1.0:0.0	.	410;411	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	F	411	ENSP00000285873:S411F	ENSP00000285873:S411F	S	-	2	0	GEMIN5	154285676	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	6.728000	0.74769	2.941000	0.99782	0.655000	0.94253	TCC	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.423	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	protein_coding	OTTHUMT00000252507.1	G		-		154305483	-1	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	SNP	1.000	A	A	154305483	G	A	154305483	3	1	205	1	0	0	0	0	1	0	0	0	6333	1174	41	2	3378	2	GEMIN5	5	154305483	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	13710461	154305483	26609777	153	16674											
FAM71B	153745	genome.wustl.edu	37	chr5	156589653	156589653	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgaaccaggagtggccctGaggctccttaaaaaagagct	11	9	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:156589653G>A	ENST00000302938.4	-	2	1718	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	541						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTGGCCCTGAGGCTCCTTA	0.463																																																	0								ENSG00000170613						145	147	146					5																	156589653		2203	4300	6503	FAM71B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1623C>T	5.37:g.156589653G>A		Somatic	0	75	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	65	18.75	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP							pfam_DUF3699	p.L541	ENST00000302938.4	37	c.1623	CCDS4335.1	5																																																																																			-	NULL		0.463	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	protein_coding	OTTHUMT00000252570.2	G	NM_130899	-		156589653	-1	no_errors	ENST00000302938	ensembl	human	known	74_37	silent	SNP	0.002	A	A	156589653	G	A	156589653	2	1	205	1	0	0	0	0	0	0	0	1	5610	1277	45	2		2	FAM71B	5	156589653	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2284170	156589653	24325607	154	16675											
ITK	3702	genome.wustl.edu	37	chr5	156668658	156668658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcaatcaacccaggcCtggtgactcgactccggtat	9	13	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:156668658C>T	ENST00000422843.3	+	11	1140	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	330	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CAACCCAGGCCTGGTGACTCG	0.448			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0								ENSG00000113263						84	70	75					5																	156668658		2203	4300	6503	ITK	SO:0001819	synonymous_variant	0			-	HGNC	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.988C>T	5.37:g.156668658C>T		Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.22	B2R752|Q32ML7	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L330	ENST00000422843.3	37	c.988	CCDS4336.1	5																																																																																			-	pfscan_SH2		0.448	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	protein_coding	OTTHUMT00000252569.2	C		-		156668658	1	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	SNP	1.000	T	T	156668658	C	T	156668658	2	4	205	1	0	0	0	0	0	0	0	1	7911	680	24	2		2	ITK	5	156668658	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	79005	156668658	24246602	155	16676											
GABRA6	2559	genome.wustl.edu	37	chr5	161118974	161118974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttttaactatgaccaCtttgagcatcagtgcccggc	8	12	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:161118974C>T	ENST00000274545.5	+	8	1287	c.854C>T	c.(853-855)aCt>aTt	p.T285I	GABRA6_ENST00000523217.1_Missense_Mutation_p.T275I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	285					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|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)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)	ACTATGACCACTTTGAGCATC	0.403										TCGA Ovarian(5;0.080)																																							0								ENSG00000145863						133	126	128					5																	161118974		2203	4300	6503	GABRA6	SO:0001583	missense	0			-	HGNC		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.854C>T	5.37:g.161118974C>T	ENSP00000274545:p.Thr285Ile	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64	A8K096|Q4VAV2	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.T285I	ENST00000274545.5	37	c.854	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647968	0.87958	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85339	-1.97;-1.97	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.046562	0.85682	D	0.000000	D	0.94978	0.8375	H	0.95402	3.665	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96308	0.9226	10	0.87932	D	0	.	18.9984	0.92822	0.0:1.0:0.0:0.0	.	285	Q16445	GBRA6_HUMAN	I	285;275	ENSP00000274545:T285I;ENSP00000430527:T275I	ENSP00000274545:T285I	T	+	2	0	GABRA6	161051552	1.000000	0.71417	0.916000	0.36221	0.936000	0.57629	7.726000	0.84824	2.468000	0.83385	0.650000	0.86243	ACT	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	protein_coding	OTTHUMT00000252707.2	C		-		161118974	1	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	SNP	1.000	T	T	161118974	C	T	161118974	3	4	205	1	0	0	0	0	1	0	0	0	6167	565	20	2	884	2	GABRA6	5	161118974	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	4450316	161118974	19796286	156	16677											
DOCK2	1794	genome.wustl.edu	37	chr5	169506118	169506118	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagcgtagtttttgcggatGagaaagcagctgcagagtcg	15	7	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:169506118G>C	ENST00000256935.8	+	49	5214	c.5134G>C	c.(5134-5136)Gag>Cag	p.E1712Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.E1204Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E773Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1712					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)			TTTTGCGGATGAGAAAGCAGC	0.572																																																	0								ENSG00000134516						67	64	65					5																	169506118		2203	4300	6503	DOCK2	SO:0001583	missense	0			-	HGNC	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.5134G>C	5.37:g.169506118G>C	ENSP00000256935:p.Glu1712Gln	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	Q2M3I0|Q96AK7	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.E1712Q	ENST00000256935.8	37	c.5134	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811958	0.32053	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10860	3.54;3.14;2.83	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	L	0.32530	0.975	0.39940	D	0.974401	P;P;P	0.52577	0.954;0.938;0.457	P;B;B	0.46452	0.517;0.368;0.287	T	0.20571	-1.0271	10	0.19147	T	0.46	.	17.0938	0.86628	0.0:0.0:1.0:0.0	.	1204;268;1712	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1712;1204;773	ENSP00000256935:E1712Q;ENSP00000429283:E1204Q;ENSP00000438827:E773Q	ENSP00000256935:E1712Q	E	+	1	0	DOCK2	169438696	1.000000	0.71417	0.952000	0.39060	0.013000	0.08279	6.631000	0.74277	2.389000	0.81357	0.650000	0.86243	GAG	-	NULL		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	G	NM_004946	-		169506118	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	1.000	C	C	169506118	G	C	169506118	3	2	205	1	0	0	0	0	1	0	0	0	4689	1291	45	4	5328	4	DOCK2	5	169506118	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	8387144	169506118	11409142	157	16678											
DOCK2	1794	genome.wustl.edu	37	chr5	169508871	169508871	+	Silent	SNP	C	C	T													gcgctctcagtggcaggcatCcctgggttggatgaggccaa							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:169508871C>T	ENST00000256935.8	+	51	5393	c.5313C>T	c.(5311-5313)atC>atT	p.I1771I	DOCK2_ENST00000520908.1_Silent_p.I1263I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.I832I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1771					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)			TGGCAGGCATCCCTGGGTTGG	0.602																																																	0								ENSG00000134516						72	63	66					5																	169508871		2203	4300	6503	DOCK2	SO:0001819	synonymous_variant	0			-	HGNC	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.5313C>T	5.37:g.169508871C>T		Somatic	0	79	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	64	17.95	Q2M3I0|Q96AK7	Silent	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.I1771	ENST00000256935.8	37	c.5313	CCDS4371.1	5																																																																																			-	NULL		0.602	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	-		169508871	1	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	SNP	0.000	T	T	169508871	C	T	169508871	2	4	205	1	0	0	0	0	0	0	0	1	4689	845	30	2		2	DOCK2	5	169508871	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2753	169508871	11406389	158	16679	480	2									
DOCK2	1794	genome.wustl.edu	37	chr5	169508872	169508872	+	Missense_Mutation	SNP	C	C	T													cgctctcagtggcaggcatcCctgggttggatgaggccaac							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:169508872C>T	ENST00000256935.8	+	51	5394	c.5314C>T	c.(5314-5316)Cct>Tct	p.P1772S	DOCK2_ENST00000520908.1_Missense_Mutation_p.P1264S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P833S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1772					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)			GGCAGGCATCCCTGGGTTGGA	0.597																																																	0								ENSG00000134516						73	64	67					5																	169508872		2203	4300	6503	DOCK2	SO:0001583	missense	0			-	HGNC	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.5314C>T	5.37:g.169508872C>T	ENSP00000256935:p.Pro1772Ser	Somatic	0	81	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	Q2M3I0|Q96AK7	Missense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.P1772S	ENST00000256935.8	37	c.5314	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442033	0.25900	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08008	3.8;3.42;3.14	4.84	0.668	0.17912	.	0.458070	0.21983	N	0.066270	T	0.04227	0.0117	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.42899	-0.9424	10	0.19590	T	0.45	.	5.1018	0.14764	0.1365:0.515:0.2666:0.0818	.	1264;328;1772	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	S	1772;1264;833	ENSP00000256935:P1772S;ENSP00000429283:P1264S;ENSP00000438827:P833S	ENSP00000256935:P1772S	P	+	1	0	DOCK2	169441450	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	1.306000	0.33505	0.124000	0.18369	0.655000	0.94253	CCT	-	NULL		0.597	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	C	NM_004946	-		169508872	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	SNP	0.000	T	T	169508872	C	T	169508872	3	4	205	1	0	0	0	0	1	0	0	0	4689	623	22	2	5516	2	DOCK2	5	169508872	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1	169508872	11406388	159	16680	480	2									
FOXI1	2299	genome.wustl.edu	37	chr5	169533045	169533045	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccaggagccccccgagatGaacctctactatgagaactt	10	13	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:169533045G>A	ENST00000306268.6	+	1	145	c.84G>A	c.(82-84)atG>atA	p.M28I	FOXI1_ENST00000449804.2_Missense_Mutation_p.M28I			Q12951	FOXI1_HUMAN	forkhead box I1	28	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCCGAGATGAACCTCTACT	0.697									Pendred syndrome																																								0								ENSG00000168269						26	29	28					5																	169533045		2203	4299	6502	FOXI1	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	-	HGNC	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.84G>A	5.37:g.169533045G>A	ENSP00000304286:p.Met28Ile	Somatic	0	82	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	93	8.82	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.M28I	ENST00000306268.6	37	c.84	CCDS4372.1	5	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859483	0.51376	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94723	-3.39;-3.5	4.5	3.61	0.41365	.	0.180841	0.51477	D	0.000094	D	0.93802	0.8018	M	0.82716	2.605	0.51233	D	0.999914	B;B	0.30914	0.3;0.199	B;B	0.26094	0.066;0.03	D	0.92344	0.5884	10	0.72032	D	0.01	.	14.2615	0.66088	0.0:0.1504:0.8496:0.0	.	28;28	Q12951-2;Q12951	.;FOXI1_HUMAN	I	28	ENSP00000304286:M28I;ENSP00000415483:M28I	ENSP00000304286:M28I	M	+	3	0	FOXI1	169465623	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.484000	0.60271	0.853000	0.35312	0.491000	0.48974	ATG	-	NULL		0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188	-		169533045	1	no_errors	ENST00000306268	ensembl	human	known	74_37	missense	SNP	1.000	A	A	169533045	G	A	169533045	3	1	205	1	0	0	0	0	1	0	0	0	6011	1290	45	2	86	2	FOXI1	5	169533045	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	24173	169533045	11382215	160	16681											
C5orf41	153222	genome.wustl.edu	37	chr5	172537591	172537591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactccaaatcctaaaaaacTcctccagataggcaatgaac	5	12	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:172537591T>C	ENST00000296953.2	+	6	1803	c.1484T>C	c.(1483-1485)cTc>cCc	p.L495P	CREBRF_ENST00000540014.1_Missense_Mutation_p.L497P	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	495					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCTAAAAAACTCCTCCAGATA	0.413																																																	0								ENSG00000164463						79	80	80					5																	172537591		2203	4300	6503	CREBRF	SO:0001583	missense	0			-	HGNC	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1484T>C	5.37:g.172537591T>C	ENSP00000296953:p.Leu495Pro	Somatic	0	29	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP							NULL	p.L497P	ENST00000296953.2	37	c.1490	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471348	0.84533	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.24908	1.83;1.83	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.53099	-0.8486	10	0.87932	D	0	.	15.8962	0.79336	0.0:0.0:0.0:1.0	.	495	Q8IUR6	CE041_HUMAN	P	495;497;495;495	ENSP00000296953:L495P;ENSP00000440075:L497P	ENSP00000296953:L495P	L	+	2	0	C5orf41	172470197	1.000000	0.71417	0.895000	0.35142	0.968000	0.65278	8.031000	0.88826	2.161000	0.67846	0.455000	0.32223	CTC	-	NULL		0.413	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	protein_coding	OTTHUMT00000372667.1	T	NM_153607	-		172537591	1	no_errors	ENST00000540014	ensembl	human	known	74_37	missense	SNP	0.998	C	C	172537591	T	C	172537591	3	2	205	1	0	0	0	0	1	0	0	0	2302	1551	54	5	1534	5	C5orf41	5	172537591	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	3004546	172537591	8377669	161	16682											
GPRIN1	114787	genome.wustl.edu	37	chr5	176025456	176025456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggtcctcccttctggaGgacaccgggtcctcttttcc	11	14	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:176025456G>A	ENST00000303991.4	-	2	1557	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	460					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTTCTGGAGGACACCGGGT	0.517																																																	0								ENSG00000169258						90	100	97					5																	176025456		2203	4300	6503	GPRIN1	SO:0001819	synonymous_variant	0			-	HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1380C>T	5.37:g.176025456G>A		Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	C9JM70|Q8ND74|Q96PZ4	Silent	SNP							NULL	p.S460	ENST00000303991.4	37	c.1380	CCDS4405.1	5																																																																																			-	NULL		0.517	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	G	NM_052899	-		176025456	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	silent	SNP	0.000	A	A	176025456	G	A	176025456	2	1	205	1	0	0	0	0	0	0	0	1	6731	987	35	2		2	GPRIN1	5	176025456	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3487865	176025456	4889804	162	16683											
UNC5A	90249	genome.wustl.edu	37	chr5	176301366	176301366	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcccagccccaagttcCagctcaccaatgggcacctg	10	16	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:176301366C>T	ENST00000329542.4	+	8	1451	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	UNC5A_ENST00000261961.3_Nonsense_Mutation_p.Q353*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	393					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCAAGTTCCAGCTCACCAA	0.672																																																	0								ENSG00000113763						85	97	93					5																	176301366		2203	4300	6503	UNC5A	SO:0001587	stop_gained	0			-	HGNC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1177C>T	5.37:g.176301366C>T	ENSP00000332737:p.Gln393*	Somatic	0	86	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	110	16.03	B2RXE6|Q8TF26|Q96GP4	Nonsense_Mutation	SNP							pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.Q393*	ENST00000329542.4	37	c.1177	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.524282	0.97637	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	.	.	.	5.34	4.41	0.53225	.	0.359267	0.30483	N	0.009527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-14.7331	15.4457	0.75228	0.0:0.8608:0.1392:0.0	.	.	.	.	X	393;353	.	ENSP00000261961:Q353X	Q	+	1	0	UNC5A	176233972	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.485000	0.45250	2.512000	0.84698	0.484000	0.47621	CAG	-	NULL		0.672	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	protein_coding	OTTHUMT00000372166.1	C	XM_030300	-		176301366	1	no_errors	ENST00000329542	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	176301366	C	T	176301366	4	4	205	1	0	0	0	0	0	1	0	0	16998	595	21	2	1207	2	UNC5A	5	176301366	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	275910	176301366	4613894	163	16684											
FGFR4	2264	genome.wustl.edu	37	chr5	176517791	176517791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaccccaagtcccataGggacccctcgaataggcaca	10	14	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:176517791G>A	ENST00000292408.4	+	4	646	c.401G>A	c.(400-402)aGg>aAg	p.R134K	FGFR4_ENST00000393648.2_Missense_Mutation_p.R134K|FGFR4_ENST00000393637.1_Missense_Mutation_p.R134K|FGFR4_ENST00000292410.3_Missense_Mutation_p.R134K|FGFR4_ENST00000502906.1_Missense_Mutation_p.R134K	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	134					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	AAGTCCCATAGGGACCCCTCG	0.567										TSP Lung(9;0.080)																																							0								ENSG00000160867						115	106	109					5																	176517791		2203	4300	6503	FGFR4	SO:0001583	missense	0			-	HGNC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.401G>A	5.37:g.176517791G>A	ENSP00000292408:p.Arg134Lys	Somatic	0	87	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	83	21.70	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R134K	ENST00000292408.4	37	c.401	CCDS4410.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.272|2.272	-0.366854|-0.366854	0.05069|0.05069	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000377207|ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637	.|T;T;T;T;T;T	.|0.78364	.|-1.17;-0.89;-1.11;-1.17;-1.17;-1.17	5.01|5.01	0.895|0.895	0.19247|0.19247	.|.	7739.210000|.	0.00166|.	N|.	0.000000|.	T|T	0.52240|0.52240	0.1722|0.1722	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.16802	.|0.002;0.019;0.0;0.012;0.0	.|B;B;B;B;B	.|0.14578	.|0.001;0.011;0.001;0.008;0.001	T|T	0.33445|0.33445	-0.9868|-0.9868	7|9	0.87932|0.19147	D|T	0|0.46	.|.	4.3323|4.3323	0.11069|0.11069	0.282:0.0:0.566:0.1521|0.282:0.0:0.566:0.1521	.|.	.|134;134;134;134;134	.|B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.|.;.;.;.;FGFR4_HUMAN	R|K	209|134	.|ENSP00000292408:R134K;ENSP00000424905:R134K;ENSP00000377259:R134K;ENSP00000424960:R134K;ENSP00000292410:R134K;ENSP00000377254:R134K	ENSP00000366412:G209R|ENSP00000292408:R134K	G|R	+|+	1|2	0|0	FGFR4|FGFR4	176450397|176450397	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.047000|0.047000	0.14425|0.14425	1.513000|1.513000	0.35823|0.35823	0.102000|0.102000	0.17638|0.17638	-0.678000|-0.678000	0.03780|0.03780	GGG|AGG	-	pirsf_FGF_rcpt_fam		0.567	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	G		-		176517791	1	no_errors	ENST00000292408	ensembl	human	known	74_37	missense	SNP	0.001	A	A	176517791	G	A	176517791	3	1	205	1	0	0	0	0	1	0	0	0	5870	1000	35	2	411	2	FGFR4	5	176517791	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	216425	176517791	4397469	164	16685											
SLC34A1	6569	genome.wustl.edu	37	chr5	176815283	176815283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcttgcccacagctggaCgagtctgtgataaccagcat	9	12	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr5:176815283C>T	ENST00000324417.5	+	8	937	c.846C>T	c.(844-846)gaC>gaT	p.D282D	SLC34A1_ENST00000512593.1_Silent_p.D282D	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	282					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CACAGCTGGACGAGTCTGTGA	0.592																																																	0								ENSG00000131183						126	113	118					5																	176815283		2203	4300	6503	SLC34A1	SO:0001819	synonymous_variant	0			-	HGNC	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.846C>T	5.37:g.176815283C>T		Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	B4DPE3	Silent	SNP							pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.D282	ENST00000324417.5	37	c.846	CCDS4418.1	5																																																																																			-	tigrfam_Na/Pi_transpt		0.592	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	protein_coding	OTTHUMT00000253431.1	C	NM_003052	-		176815283	1	no_errors	ENST00000324417	ensembl	human	known	74_37	silent	SNP	1.000	T	T	176815283	C	T	176815283	2	4	205	1	0	0	0	0	0	0	0	1	14575	535	19	1		1	SLC34A1	5	176815283	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	297492	176815283	4099977	165	16686											
DSP	1832	genome.wustl.edu	37	chr6	7568118	7568118	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcccctgcagcacctgctGgaacagatcaaggagctgga	12	12	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:7568118G>T	ENST00000379802.3	+	10	1586	c.1245G>T	c.(1243-1245)ctG>ctT	p.L415L	DSP_ENST00000418664.2_Silent_p.L415L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	415	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCACCTGCTGGAACAGATCA	0.542																																																	0								ENSG00000096696						65	55	59					6																	7568118		2203	4300	6503	DSP	SO:0001819	synonymous_variant	0			-	HGNC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1245G>T	6.37:g.7568118G>T		Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP							pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L415	ENST00000379802.3	37	c.1245	CCDS4501.1	6																																																																																			-	NULL		0.542	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	protein_coding	OTTHUMT00000039786.2	G	NM_004415	-		7568118	1	no_errors	ENST00000379802	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7568118	G	T	7568118	2	4	205	1	0	0	0	0	0	0	0	1	4783	1335	47	3		3	DSP	6	7568118	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		7568118	163546949	166	16687											
HLA-E	3133	genome.wustl.edu	37	chr6	30458215	30458215	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgaggcggagcaccagaGagcctacctggaagacacat	12	12	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:30458215G>A	ENST00000376630.4	+	3	598	c.533G>A	c.(532-534)aGa>aAa	p.R178K		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	178	Alpha-2.		R -> G (in allele E*01:04; dbSNP:rs41562314).		antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GAGCACCAGAGAGCCTACCTG	0.592																																																	0								ENSG00000204592						65	63	63					6																	30458215		1509	2709	4218	HLA-E	SO:0001583	missense	0			-	HGNC	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.533G>A	6.37:g.30458215G>A	ENSP00000365817:p.Arg178Lys	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP							pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.R178K	ENST00000376630.4	37	c.533	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860434	0.51482	.	.	ENSG00000204592	ENST00000376630	T	0.00760	5.73	1.67	0.706	0.18133	.	0.191155	0.21408	U	0.075030	T	0.00724	0.0024	L	0.35723	1.085	0.09310	N	1	P;P	0.46512	0.879;0.879	D;D	0.70016	0.967;0.967	T	0.53961	-0.8364	10	0.72032	D	0.01	.	4.4634	0.11676	0.2213:0.0:0.7787:0.0	.	219;178	E7ENN9;Q6DU44	.;.	K	178	ENSP00000365817:R178K	ENSP00000365817:R178K	R	+	2	0	HLA-E	30566194	0.000000	0.05858	0.080000	0.20451	0.042000	0.13812	-0.059000	0.11731	0.217000	0.20800	0.462000	0.41574	AGA	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a		0.592	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	protein_coding	OTTHUMT00000076282.2	G	NM_005516	-		30458215	1	no_errors	ENST00000376630	ensembl	human	known	74_37	missense	SNP	0.094	A	A	30458215	G	A	30458215	3	1	205	1	0	0	0	0	1	0	0	0	7212	942	33	2	543	2	HLA-E	6	30458215	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	22890097	30458215	140656852	167	16688											
TUBB	203068	genome.wustl.edu	37	chr6	30692042	30692042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactggtacacaggcgaGggcatggacgagatggagtt	15	9	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:30692042G>A	ENST00000327892.8	+	4	1509	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	TUBB_ENST00000330914.3_Silent_p.E329E|TUBB_ENST00000396389.1_Silent_p.E383E|TUBB_ENST00000396384.1_Silent_p.E329E|TUBB_ENST00000435534.1_Silent_p.E200E|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	401			E -> K (in CDCBM6; arrests the assembly pathway of alpha/beta-tubulin; the mutant protein is unable to coassemble into a tubulin heterodimer but is instead distributed throughout the cytoplasm). {ECO:0000269|PubMed:23246003}.		cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|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)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	ACACAGGCGAGGGCATGGACG	0.577																																																	0								ENSG00000196230						78	71	73					6																	30692042		2203	4298	6501	TUBB	SO:0001819	synonymous_variant	0			-	HGNC	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.1203G>A	6.37:g.30692042G>A		Somatic	0	64	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	110	12.00	P05218|Q8WUC1|Q9CY33	Silent	SNP							pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E401	ENST00000327892.8	37	c.1203	CCDS4687.1	6																																																																																			-	superfamily_Tub_FtsZ_C,prints_Delta_tubulin		0.577	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	protein_coding	OTTHUMT00000076074.2	G	NM_178014	-		30692042	1	no_errors	ENST00000327892	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30692042	G	A	30692042	2	1	205	1	0	0	0	0	0	0	0	1	16759	991	35	2		2	TUBB	6	30692042	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	233827	30692042	140423025	168	16689											
CCHCR1	54535	genome.wustl.edu	37	chr6	31113065	31113065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcacgtctgtgaccggtGgtggtaggggacagctggga	19	8	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:31113065G>A	ENST00000376266.5	-	13	1609	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L	CCHCR1_ENST00000451521.2_Missense_Mutation_p.P549L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.P443L|CCHCR1_ENST00000396268.3_Missense_Mutation_p.P585L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	496					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGTGACCGGTGGTGGTAGGGG	0.587																																																	0								ENSG00000204536						37	32	34					6																	31113065		1511	2709	4220	CCHCR1	SO:0001583	missense	0			-	HGNC	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1487C>T	6.37:g.31113065G>A	ENSP00000365442:p.Pro496Leu	Somatic	0	61	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	62	13.89	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP							pfam_HCR	p.P585L	ENST00000376266.5	37	c.1754	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920591	0.17982	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	5.0	4.1	0.47936	.	0.307281	0.26761	N	0.022637	T	0.01489	0.0048	L	0.40543	1.245	0.39691	D	0.97104	B;B;B;B;B	0.18166	0.007;0.001;0.006;0.026;0.026	B;B;B;B;B	0.19391	0.018;0.007;0.017;0.025;0.015	T	0.46470	-0.9189	10	0.29301	T	0.29	-0.434	10.3852	0.44136	0.0:0.0:0.8038:0.1962	.	496;496;496;549;585	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	L	585;496;443;496;549	ENSP00000379566:P585L;ENSP00000365442:P496L;ENSP00000379561:P443L;ENSP00000401039:P549L	ENSP00000365442:P496L	P	-	2	0	CCHCR1	31221044	0.970000	0.33590	0.311000	0.25182	0.155000	0.21991	2.344000	0.44010	1.039000	0.40074	0.478000	0.44815	CCA	-	pfam_HCR		0.587	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	protein_coding	OTTHUMT00000076190.5	G	NM_019052	-		31113065	-1	no_errors	ENST00000396268	ensembl	human	known	74_37	missense	SNP	0.831	A	A	31113065	G	A	31113065	3	1	205	1	0	0	0	0	1	0	0	0	2879	1348	47	2	885	2	CCHCR1	6	31113065	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	421023	31113065	140002002	169	16690											
LY6G6C	80740	genome.wustl.edu	37	chr6	31686914	31686914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccagccaaggaggtaaGgaagacaaggcccagggctg	16	9	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:31686914G>A	ENST00000375819.2	-	3	502	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F	LY6G6C_ENST00000495859.1_Missense_Mutation_p.L57F	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	113						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AAGGAGGTAAGGAAGACAAGG	0.612																																																	0								ENSG00000204421						103	93	97					6																	31686914		2203	4300	6503	LY6G6C	SO:0001583	missense	0			-	HGNC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.337C>T	6.37:g.31686914G>A	ENSP00000364978:p.Leu113Phe	Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	50	19.35	Q5SRS8|Q8IY94	Missense_Mutation	SNP							NULL	p.L113F	ENST00000375819.2	37	c.337	CCDS4714.1	6	.	.	.	.	.	.	.	.	.	.	g	11.03	1.517573	0.27123	.	.	ENSG00000204421	ENST00000495859;ENST00000375819	T;T	0.61510	0.1;0.12	4.98	2.0	0.26442	.	0.465144	0.18288	N	0.145802	T	0.19087	0.0458	L	0.27053	0.805	0.20307	N	0.999913	B	0.23735	0.09	B	0.23419	0.046	T	0.13469	-1.0508	10	0.41790	T	0.15	-16.2034	4.4903	0.11810	0.2049:0.1852:0.6099:0.0	.	113	O95867	LY66C_HUMAN	F	57;113	ENSP00000433207:L57F;ENSP00000364978:L113F	ENSP00000364978:L113F	L	-	1	0	LY6G6C	31794893	0.872000	0.30054	0.967000	0.41034	0.231000	0.25187	0.549000	0.23329	0.512000	0.28257	0.282000	0.19409	CTT	-	NULL		0.612	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6C	protein_coding	OTTHUMT00000076530.2	G		-		31686914	-1	no_errors	ENST00000375819	ensembl	human	known	74_37	missense	SNP	0.697	A	A	31686914	G	A	31686914	3	1	205	1	0	0	0	0	1	0	0	0	9096	1000	35	2	44	2	LY6G6C	6	31686914	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	573849	31686914	139428153	170	16691											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33408709	33408709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaaccctcaccctcattgCcaaggtcatccagaacctgg	7	16	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:33408709C>T	ENST00000418600.2	+	11	1981	c.1880C>T	c.(1879-1881)gCc>gTc	p.A627V	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A568V|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A627V|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	627	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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						ACCCTCATTGCCAAGGTCATC	0.597																																																	0								ENSG00000197283						89	73	79					6																	33408709		2203	4300	6503	SYNGAP1	SO:0001583	missense	0			-	HGNC	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.1880C>T	6.37:g.33408709C>T	ENSP00000403636:p.Ala627Val	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP							pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.A627V	ENST00000418600.2	37	c.1880	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045194	0.93685	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.34859	1.34;1.34;1.34	5.03	5.03	0.67393	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.66979	0.948;0.913;0.913	T	0.65631	-0.6121	10	0.87932	D	0	.	15.8854	0.79244	0.0:1.0:0.0:0.0	.	627;627;627	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	V	627;627;627;568	ENSP00000293748:A627V;ENSP00000403636:A627V;ENSP00000412475:A568V	ENSP00000293748:A627V	A	+	2	0	SYNGAP1	33516687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.615000	0.88500	0.655000	0.94253	GCC	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.597	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407	-		33408709	1	no_errors	ENST00000418600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33408709	C	T	33408709	3	4	205	1	0	0	0	0	1	0	0	0	15454	739	26	2	1922	2	SYNGAP1	6	33408709	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1721795	33408709	137706358	171	16692											
ANKS1A	23294	genome.wustl.edu	37	chr6	35051241	35051241	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaccatcatcctgtccatCacatacaaaggtgtcaagtt	5	14	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:35051241C>T	ENST00000360359.3	+	20	3093	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	985	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCTGTCCATCACATACAAAG	0.547																																																	0								ENSG00000064999						230	182	199					6																	35051241		2203	4300	6503	ANKS1A	SO:0001819	synonymous_variant	0			-	HGNC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2955C>T	6.37:g.35051241C>T		Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.I985	ENST00000360359.3	37	c.2955	CCDS4798.1	6																																																																																			-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.547	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	protein_coding	OTTHUMT00000040262.1	C	XM_166478	-		35051241	1	no_errors	ENST00000360359	ensembl	human	known	74_37	silent	SNP	1.000	T	T	35051241	C	T	35051241	2	4	205	1	0	0	0	0	0	0	0	1	688	816	29	2		2	ANKS1A	6	35051241	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1642532	35051241	136063826	172	16693											
C6orf89	221477	genome.wustl.edu	37	chr6	36882452	36882452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctttcctgagcggtggttCccatttccttatccatggtg	10	11	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:36882452C>T	ENST00000480824.2	+	6	972	c.678C>T	c.(676-678)ttC>ttT	p.F226F	C6orf89_ENST00000510325.2_Silent_p.F120F|C6orf89_ENST00000355190.3_Silent_p.F233F|C6orf89_ENST00000373685.1_Silent_p.F226F|C6orf89_ENST00000359359.2_Silent_p.F120F			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	226					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AGCGGTGGTTCCCATTTCCTT	0.547																																																	0								ENSG00000198663						146	152	150					6																	36882452		2203	4300	6503	C6orf89	SO:0001819	synonymous_variant	0			-	HGNC	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.678C>T	6.37:g.36882452C>T		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP							NULL	p.F233	ENST00000480824.2	37	c.699		6																																																																																			-	NULL		0.547	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	protein_coding	OTTHUMT00000040387.2	C	NM_152734	-		36882452	1	no_errors	ENST00000355190	ensembl	human	known	74_37	silent	SNP	1.000	T	T	36882452	C	T	36882452	2	4	205	1	0	0	0	0	0	0	0	1	2375	854	30	2		2	C6orf89	6	36882452	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1831211	36882452	134232615	173	16694											
PI16	221476	genome.wustl.edu	37	chr6	36931377	36931377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtgccctggctctgcagtCgtccttgccaggtaaggccc	13	15	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:36931377C>T	ENST00000373674.3	+	5	1587	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	420					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTCTGCAGTCGTCCTTGCCA	0.607																																																	0								ENSG00000164530						56	56	56					6																	36931377		2203	4300	6503	PI16	SO:0001583	missense	0			-	HGNC		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.1259C>T	6.37:g.36931377C>T	ENSP00000362778:p.Ser420Leu	Somatic	0	14	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP							pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.S420L	ENST00000373674.3	37	c.1259	CCDS34440.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941714	0.73557	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.17370	2.28	4.94	4.08	0.47627	.	0.000000	0.40469	N	0.001084	T	0.05731	0.0150	L	0.32530	0.975	0.80722	D	1	B	0.33549	0.417	B	0.25987	0.065	T	0.12941	-1.0528	10	0.87932	D	0	.	11.1757	0.48598	0.0:0.9107:0.0:0.0893	.	420	Q6UXB8	PI16_HUMAN	L	420;272	ENSP00000362778:S420L	ENSP00000362778:S420L	S	+	2	0	PI16	37039355	0.957000	0.32711	0.883000	0.34634	0.781000	0.44180	2.361000	0.44160	1.318000	0.45170	0.561000	0.74099	TCG	-	NULL		0.607	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	protein_coding	OTTHUMT00000040380.1	C	NM_153370	-		36931377	1	no_errors	ENST00000373674	ensembl	human	known	74_37	missense	SNP	0.901	T	T	36931377	C	T	36931377	3	4	205	1	0	0	0	0	1	0	0	0	11871	893	31	1	1277	1	PI16	6	36931377	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	48925	36931377	134183690	174	16695											
KCNK5	8645	genome.wustl.edu	37	chr6	39159187	39159187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgccttgaggccccaGccctgggcccgggcccgtct	12	21	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:39159187G>A	ENST00000359534.3	-	5	1317	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	327					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGAGGCCCCAGCCCTGGGCCC	0.627																																																	0								ENSG00000164626						56	60	58					6																	39159187		2203	4299	6502	KCNK5	SO:0001819	synonymous_variant	0			-	HGNC	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.979C>T	6.37:g.39159187G>A		Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	B2RAQ6|B5TJL2|Q5VV76	Silent	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.L327	ENST00000359534.3	37	c.979	CCDS4841.1	6																																																																																			-	NULL		0.627	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	protein_coding	OTTHUMT00000040449.1	G	NM_003740	-		39159187	-1	no_errors	ENST00000359534	ensembl	human	known	74_37	silent	SNP	0.058	A	A	39159187	G	A	39159187	2	1	205	1	0	0	0	0	0	0	0	1	8071	962	34	2		2	KCNK5	6	39159187	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2227810	39159187	131955880	175	16696											
CUL7	9820	genome.wustl.edu	37	chr6	43019973	43019973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggaggacagggcttgtAtcatccggcctgcactccag	13	12	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:43019973A>G	ENST00000265348.3	-	2	639	c.554T>C	c.(553-555)aTa>aCa	p.I185T	CUL7_ENST00000535468.1_Missense_Mutation_p.I237T			Q14999	CUL7_HUMAN	cullin 7	185					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGGGCTTGTATCATCCGGCC	0.577																																																	0								ENSG00000044090						64	57	60					6																	43019973		2203	4300	6503	CUL7	SO:0001583	missense	0			-	HGNC	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.554T>C	6.37:g.43019973A>G	ENSP00000265348:p.Ile185Thr	Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP							pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.I237T	ENST00000265348.3	37	c.710	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873008	0.72180	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.69175	-0.34;-0.38	5.6	4.44	0.53790	Armadillo-like helical (1);	0.429940	0.24158	N	0.041018	T	0.28400	0.0702	N	0.08118	0	0.80722	D	1	B;B	0.33637	0.42;0.322	B;B	0.29176	0.099;0.086	T	0.35525	-0.9785	10	0.87932	D	0	-20.4604	11.2114	0.48802	0.9281:0.0:0.0719:0.0	.	237;185	F5H0L1;Q14999	.;CUL7_HUMAN	T	185;237	ENSP00000265348:I185T;ENSP00000438788:I237T	ENSP00000265348:I185T	I	-	2	0	CUL7	43127951	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.462000	0.80851	0.958000	0.37956	0.459000	0.35465	ATA	-	superfamily_ARM-type_fold		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	protein_coding	OTTHUMT00000040575.1	A	NM_014780	-		43019973	-1	no_errors	ENST00000535468	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43019973	A	G	43019973	3	3	205	1	0	0	0	0	1	0	0	0	4062	449	16	5	4738	5	CUL7	6	43019973	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	3860786	43019973	128095094	176	16697											
HSP90AB1	3326	genome.wustl.edu	37	chr6	44218310	44218310	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctacaagagcctcactaatGactgggaagaccacttggca	9	11	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:44218310G>T	ENST00000371554.1	+	6	1145	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D311Y|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D311Y			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	311					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTCACTAATGACTGGGAAGA	0.463																																																	0								ENSG00000096384						73	69	71					6																	44218310		2203	4300	6503	HSP90AB1	SO:0001583	missense	0			-	HGNC	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.931G>T	6.37:g.44218310G>T	ENSP00000360609:p.Asp311Tyr	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP							pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.D311Y	ENST00000371554.1	37	c.931	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519223	0.85495	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.15487	2.42;2.42;2.42	4.41	4.41	0.53225	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000001	T	0.58793	0.2147	H	0.99719	4.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.999	T	0.80906	-0.1173	10	0.87932	D	0	-31.7124	17.0182	0.86425	0.0:0.0:1.0:0.0	.	273;301;311	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Y	311	ENSP00000360709:D311Y;ENSP00000325875:D311Y;ENSP00000360609:D311Y	ENSP00000325875:D311Y	D	+	1	0	HSP90AB1	44326288	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.852000	0.99516	2.018000	0.59344	0.460000	0.39030	GAC	-	pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam		0.463	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	protein_coding	OTTHUMT00000040730.1	G	NM_007355	-		44218310	1	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44218310	G	T	44218310	3	4	205	1	0	0	0	0	1	0	0	0	7404	1290	45	3	949	3	HSP90AB1	6	44218310	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1198337	44218310	126896757	177	16698											
GPR115	221393	genome.wustl.edu	37	chr6	47681807	47681807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttaggaatggtacagattCccaggcaagagctaaggaag	12	7	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:47681807C>T	ENST00000283303.2	+	6	1084	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	GPR115_ENST00000327753.3_Missense_Mutation_p.P276S|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.P333S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	276					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						GGTACAGATTCCCAGGCAAGA	0.448																																					GBM(22;431 510 9010 26644 32828)												0								ENSG00000153294						57	59	58					6																	47681807		2203	4300	6503	GPR115	SO:0001583	missense	0			-	HGNC	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.826C>T	6.37:g.47681807C>T	ENSP00000283303:p.Pro276Ser	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.P333S	ENST00000283303.2	37	c.997	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	C	5.258	0.232964	0.09969	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.39056	1.33;1.1;1.1	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000002	T	0.10766	0.0263	L	0.37630	1.12	0.30510	N	0.769502	P	0.37141	0.584	B	0.30251	0.113	T	0.13361	-1.0512	10	0.02654	T	1	-22.5927	11.5523	0.50726	0.0:0.9181:0.0:0.0819	.	276	Q8IZF3	GP115_HUMAN	S	333;276;276	ENSP00000360264:P333S;ENSP00000328319:P276S;ENSP00000283303:P276S	ENSP00000283303:P276S	P	+	1	0	GPR115	47789766	1.000000	0.71417	0.999000	0.59377	0.117000	0.20001	2.322000	0.43814	2.578000	0.87016	0.655000	0.94253	CCC	-	NULL		0.448	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	C	NM_153838	-		47681807	1	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	SNP	0.989	T	T	47681807	C	T	47681807	3	4	205	1	0	0	0	0	1	0	0	0	6634	855	30	2	844	2	GPR115	6	47681807	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3463497	47681807	123433260	178	16699											
COL19A1	1310	genome.wustl.edu	37	chr6	70637854	70637854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagtagctgccatgtttcGagtacgaagaaacgccaaaa	9	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:70637854G>A	ENST00000322773.4	+	5	422	c.320G>A	c.(319-321)cGa>cAa	p.R107Q		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	107	Laminin G-like.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). {ECO:0000305}.	cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCATGTTTCGAGTACGAAGA	0.438																																																	0								ENSG00000082293						132	131	131					6																	70637854		2203	4300	6503	COL19A1	SO:0001583	missense	0			-	HGNC		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.320G>A	6.37:g.70637854G>A	ENSP00000316030:p.Arg107Gln	Somatic	0	65	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.67	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP							pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R107Q	ENST00000322773.4	37	c.320	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292174	0.40594	.	.	ENSG00000082293	ENST00000322773	T	0.02258	4.37	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.09598	0.0236	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02333	-1.1175	10	0.59425	D	0.04	.	19.8644	0.96799	0.0:0.0:1.0:0.0	.	107	Q14993	COJA1_HUMAN	Q	107	ENSP00000316030:R107Q	ENSP00000316030:R107Q	R	+	2	0	COL19A1	70694575	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	5.202000	0.65169	2.691000	0.91804	0.655000	0.94253	CGA	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.438	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	protein_coding	OTTHUMT00000041127.1	G		-		70637854	1	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70637854	G	A	70637854	3	1	205	1	0	0	0	0	1	0	0	0	3678	1058	37	1	334	1	COL19A1	6	70637854	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	22956047	70637854	100477213	179	16700											
ME1	4199	genome.wustl.edu	37	chr6	84025054	84025054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaactgcctccatgaattCgtccaaaaaatcatcatatt	4	10	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:84025054C>T	ENST00000369705.3	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ME1_ENST00000543031.1_Missense_Mutation_p.E152K|ME1_ENST00000541327.1_Missense_Mutation_p.E61K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	227					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TCCATGAATTCGTCCAAAAAA	0.303																																																	0								ENSG00000065833						107	109	109					6																	84025054		2203	4299	6502	ME1	SO:0001583	missense	0			-	HGNC	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.679G>A	6.37:g.84025054C>T	ENSP00000358719:p.Glu227Lys	Somatic	0	95	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	97	18.33	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP							pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.E227K	ENST00000369705.3	37	c.679	CCDS34492.1	6	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786789	0.70337	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.34072	1.38;1.38;1.38	5.76	4.88	0.63580	Malic enzyme, N-terminal (2);	0.095142	0.64402	D	0.000001	T	0.37892	0.1020	M	0.62723	1.935	0.53005	D	0.999961	D	0.55605	0.972	P	0.53450	0.726	T	0.39761	-0.9598	10	0.87932	D	0	-11.155	13.4751	0.61303	0.157:0.843:0.0:0.0	.	227	P48163	MAOX_HUMAN	K	227;61;152	ENSP00000358719:E227K;ENSP00000439912:E61K;ENSP00000446114:E152K	ENSP00000358719:E227K	E	-	1	0	ME1	84081773	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	5.588000	0.67517	1.430000	0.47334	-0.195000	0.12781	GAA	-	pfam_Malic_N		0.303	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME1	protein_coding	OTTHUMT00000041350.1	C		-		84025054	-1	no_errors	ENST00000369705	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84025054	C	T	84025054	3	4	205	1	0	0	0	0	1	0	0	0	9419	893	31	1	1075	1	ME1	6	84025054	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	13387200	84025054	87090013	180	16701											
POU3F2	5454	genome.wustl.edu	37	chr6	99283814	99283814	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcgcaagggcgcaagcgGaaaaagcggacctccatcga	14	12	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:99283814G>A	ENST00000328345.5	+	1	1235	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	355					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGCGCAAGCGGAAAAAGCGGA	0.617																																																	0								ENSG00000184486						74	82	79					6																	99283814		2203	4300	6503	POU3F2	SO:0001819	synonymous_variant	0			-	HGNC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1065G>A	6.37:g.99283814G>A		Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	64	17.95	Q14960|Q86V54|Q9UJL0	Silent	SNP							pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.R355	ENST00000328345.5	37	c.1065	CCDS5040.1	6																																																																																			-	pirsf_Transcription_factor_POU,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU		0.617	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	protein_coding	OTTHUMT00000041586.2	G		-		99283814	1	no_errors	ENST00000328345	ensembl	human	known	74_37	silent	SNP	1.000	A	A	99283814	G	A	99283814	2	1	205	1	0	0	0	0	0	0	0	1	12277	1161	41	2		2	POU3F2	6	99283814	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	15258760	99283814	71831253	181	16702											
AKD1	221264	genome.wustl.edu	37	chr6	109907239	109907239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccagcctccatattttgGggcaccaggaaacctatcct	7	13	0	0	rs374212368		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:109907239G>A	ENST00000424296.2	-	18	1955	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	AK9_ENST00000368948.2_Missense_Mutation_p.P627S|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	627					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)										CCATATTTTGGGGCACCAGGA	0.378																																																	0								ENSG00000155085						108	87	93					6																	109907239		692	1591	2283	AK9	SO:0001583	missense	0			-	HGNC	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.1879C>T	6.37:g.109907239G>A	ENSP00000410186:p.Pro627Ser	Somatic	0	54	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP							pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P627S	ENST00000424296.2	37	c.1879	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764909	0.31228	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	T;T	0.66280	-0.2;1.63	5.43	4.55	0.56014	.	0.000000	0.52532	D	0.000080	T	0.33990	0.0882	L	0.36672	1.1	0.80722	D	1	B	0.30193	0.272	B	0.28553	0.091	T	0.19484	-1.0304	9	.	.	.	-8.9231	13.3295	0.60479	0.0:0.0:0.8406:0.1594	.	627	Q5TCS8	AKD1_HUMAN	S	627	ENSP00000410186:P627S;ENSP00000357944:P627S	.	P	-	1	0	AKD1	110013932	1.000000	0.71417	0.933000	0.37362	0.507000	0.33981	2.319000	0.43788	1.291000	0.44653	-0.194000	0.12790	CCA	-	superfamily_P-loop_NTPase		0.378	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	protein_coding		G	NM_001145128	-		109907239	-1	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	SNP	0.970	A	A	109907239	G	A	109907239	3	1	205	1	0	0	0	0	1	0	0	0	460	1232	43	2	3952	2	AKD1	6	109907239	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	10623425	109907239	61207828	182	16703											
DSE	29940	genome.wustl.edu	37	chr6	116758475	116758475	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagctgtattttattatgGttgtactcttcttgttccca	7	7	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:116758475G>A	ENST00000331677.3	+	7	3288	c.2844G>A	c.(2842-2844)tgG>tgA	p.W948*	DSE_ENST00000359564.2_Nonsense_Mutation_p.W948*|DSE_ENST00000452085.3_Nonsense_Mutation_p.W948*|DSE_ENST00000537543.1_Nonsense_Mutation_p.W967*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	948					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTTATTATGGTTGTACTCTT	0.373																																																	0								ENSG00000111817						57	60	59					6																	116758475		2203	4300	6503	DSE	SO:0001587	stop_gained	0			-	HGNC	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2844G>A	6.37:g.116758475G>A	ENSP00000332151:p.Trp948*	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	Q5R3K6	Nonsense_Mutation	SNP							superfamily_Chondroitin_lyas	p.W967*	ENST00000331677.3	37	c.2901	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.932228	0.97944	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	6.02	6.02	0.97574	.	0.112086	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5895	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	948;967;948;948	.	ENSP00000332151:W948X	W	+	3	0	DSE	116865168	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.127000	0.64727	2.857000	0.98124	0.650000	0.86243	TGG	-	NULL		0.373	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	protein_coding	OTTHUMT00000041940.2	G	NM_013352	-		116758475	1	no_errors	ENST00000537543	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	116758475	G	A	116758475	4	1	205	1	0	0	0	0	0	1	0	0	4776	1270	44	2	2862	2	DSE	6	116758475	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	6851236	116758475	54356592	183	16704											
RFX6	222546	genome.wustl.edu	37	chr6	117237188	117237188	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggttgatacgctcataatGatgtacaaaactcactgcca	7	9	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:117237188G>A	ENST00000332958.2	+	8	814	c.798G>A	c.(796-798)atG>atA	p.M266I	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	266					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGCTCATAATGATGTACAAAA	0.328																																																	0								ENSG00000185002						134	133	133					6																	117237188		2203	4300	6503	RFX6	SO:0001583	missense	0			-	HGNC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.798G>A	6.37:g.117237188G>A	ENSP00000332208:p.Met266Ile	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.42	Q5T6B3	Missense_Mutation	SNP							pfam_DNA-bd_RFX	p.M266I	ENST00000332958.2	37	c.798	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739609	0.69304	.	.	ENSG00000185002	ENST00000332958	T	0.56444	0.46	5.97	5.97	0.96955	.	0.075813	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10972	0.075	0.80722	D	1	B	0.26041	0.14	B	0.23150	0.044	T	0.06826	-1.0805	10	0.37606	T	0.19	-19.7342	20.4324	0.99085	0.0:0.0:1.0:0.0	.	266	Q8HWS3	RFX6_HUMAN	I	266	ENSP00000332208:M266I	ENSP00000332208:M266I	M	+	3	0	RFX6	117343881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	ATG	-	NULL		0.328	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	protein_coding	OTTHUMT00000041970.2	G	NM_173560	-		117237188	1	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117237188	G	A	117237188	3	1	205	1	0	0	0	0	1	0	0	0	13275	1290	45	2	828	2	RFX6	6	117237188	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	478713	117237188	53877879	184	16705											
LAMA2	3908	genome.wustl.edu	37	chr6	129674347	129674347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcagtccaggcaaccctgGaggctcctgccaagaatgtg	13	12	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:129674347G>A	ENST00000421865.2	+	32	4611	c.4562G>A	c.(4561-4563)gGa>gAa	p.G1521E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1521	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)			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)		GGCAACCCTGGAGGCTCCTGC	0.537																																																	0								ENSG00000196569						63	56	58					6																	129674347		2203	4300	6503	LAMA2	SO:0001583	missense	0			-	HGNC	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.4562G>A	6.37:g.129674347G>A	ENSP00000400365:p.Gly1521Glu	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	57	9.52	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP							pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G1521E	ENST00000421865.2	37	c.4562	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642590	0.87859	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61510	0.1	5.75	5.75	0.90469	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86384	0.1731	10	0.62326	D	0.03	.	19.9569	0.97222	0.0:0.0:1.0:0.0	.	1521;1521	A6NF00;P24043	.;LAMA2_HUMAN	E	1521	ENSP00000400365:G1521E	ENSP00000346769:G1521E	G	+	2	0	LAMA2	129716040	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	8.510000	0.90532	2.729000	0.93468	0.460000	0.39030	GGA	-	pfam_EGF_laminin,smart_EGF_laminin		0.537	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	G		-		129674347	1	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	SNP	1.000	A	A	129674347	G	A	129674347	3	1	205	1	0	0	0	0	1	0	0	0	8608	1174	41	2	4688	2	LAMA2	6	129674347	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	12437159	129674347	41440720	185	16706											
SYNE1	23345	genome.wustl.edu	37	chr6	152730338	152730338	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtctttctgtttgtaattCattttgttcttggcagtttc	7	6	4	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr6:152730338C>T	ENST00000367255.5	-	44	7006	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	SYNE1_ENST00000341594.5_Missense_Mutation_p.M2172I|RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.M2142I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M2135I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M2142I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2135					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)		GTTTGTAATTCATTTTGTTCT	0.313										HNSCC(10;0.0054)																																							0								ENSG00000131018						126	121	123					6																	152730338		2203	4299	6502	SYNE1	SO:0001583	missense	0			-	HGNC	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.6405G>A	6.37:g.152730338C>T	ENSP00000356224:p.Met2135Ile	Somatic	0	58	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	69	24.18	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.M2135I	ENST00000367255.5	37	c.6405	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103516	0.37145	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.57	5.57	0.84162	.	0.077386	0.56097	D	0.000040	T	0.15349	0.0370	L	0.56769	1.78	0.80722	D	1	P;P;P;P	0.40083	0.702;0.518;0.518;0.459	B;B;B;B	0.34418	0.182;0.114;0.114;0.173	T	0.02852	-1.1102	10	0.30854	T	0.27	.	10.9517	0.47334	0.1446:0.7158:0.1396:0.0	.	2118;2135;2135;2142	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	2135;2142;2135;2142;2172	ENSP00000356224:M2135I;ENSP00000396024:M2142I;ENSP00000265368:M2135I;ENSP00000390975:M2142I;ENSP00000341887:M2172I	ENSP00000265368:M2135I	M	-	3	0	SYNE1	152772031	1.000000	0.71417	0.984000	0.44739	0.855000	0.48748	2.504000	0.45416	2.630000	0.89119	0.655000	0.94253	ATG	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.313	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	C	NM_182961	-		152730338	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	1.000	T	T	152730338	C	T	152730338	3	4	205	1	0	0	0	0	1	0	0	0	15452	826	29	2	20473	2	SYNE1	6	152730338	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	23055991	152730338	18384729	186	16707											
PDGFA	5154	genome.wustl.edu	37	chr7	550608	550608	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgtaaatgaccgtcctggtCttgcagacagcggggacagc	13	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:550608C>T	ENST00000354513.5	-	4	683	c.291G>A	c.(289-291)aaG>aaA	p.K97K	PDGFA_ENST00000426681.2_5'Flank|PDGFA_ENST00000402802.3_Silent_p.K97K	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	97					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CCGTCCTGGTCTTGCAGACAG	0.677																																																	0								ENSG00000197461						55	46	49					7																	550608		2203	4298	6501	PDGFA	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"PDGF A-chain", "platelet-derived growth factor alpha chain"	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.291G>A	7.37:g.550608C>T		Somatic	0	70	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	74	26.73	B5BU73	Silent	SNP							pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.K97	ENST00000354513.5	37	c.291	CCDS34578.1	7	.	.	.	.	.	.	.	.	.	.	c	3.821	-0.037842	0.07497	.	.	ENSG00000197461	ENST00000400761	.	.	.	4.69	3.67	0.42095	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51164	-0.8740	4	.	.	.	-31.0506	5.5239	0.16947	0.0:0.6388:0.0:0.3612	.	.	.	.	N	104	.	.	D	-	1	0	PDGFA	517134	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	2.611000	0.46334	2.153000	0.67306	0.558000	0.71614	GAC	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom		0.677	PDGFA-002	KNOWN	basic|CCDS	protein_coding	PDGFA	protein_coding	OTTHUMT00000322534.1	C		-		550608	-1	no_errors	ENST00000354513	ensembl	human	known	74_37	silent	SNP	1.000	T	T	550608	C	T	550608	2	4	205	1	0	0	0	0	0	0	0	1	11659	912	32	2		2	PDGFA	7	550608	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		550608	158588055	187	16708											
IQCE	23288	genome.wustl.edu	37	chr7	2627481	2627481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtggagcaagccccgGctgctgaggcgcattgtgga	18	9	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:2627481G>A	ENST00000402050.2	+	13	1198	c.1014G>A	c.(1012-1014)cgG>cgA	p.R338R	IQCE_ENST00000438376.2_Silent_p.R322R|IQCE_ENST00000404984.1_Silent_p.R287R|IQCE_ENST00000325979.7_Silent_p.R273R	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	338						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCAAGCCCCGGCTGCTGAGGC	0.627																																																	0								ENSG00000106012						103	116	112					7																	2627481		2123	4237	6360	IQCE	SO:0001819	synonymous_variant	0			-	HGNC	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1014G>A	7.37:g.2627481G>A		Somatic	0	86	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	99	18.18	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP							pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R338	ENST00000402050.2	37	c.1014	CCDS43542.1	7																																																																																			-	NULL		0.627	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	protein_coding	OTTHUMT00000325063.2	G	NM_152558	-		2627481	1	no_errors	ENST00000402050	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2627481	G	A	2627481	2	1	205	1	0	0	0	0	0	0	0	1	7808	1190	42	2		2	IQCE	7	2627481	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2076873	2627481	156511182	188	16709											
SDK1	221935	genome.wustl.edu	37	chr7	4304978	4304978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acacccccgctggccccggcGcgcgaactccgctcaccggc	11	22	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:4304978G>C	ENST00000404826.2	+	45	6743	c.6604G>C	c.(6604-6606)Gcg>Ccg	p.A2202P	SDK1_ENST00000389531.3_Missense_Mutation_p.A2182P|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2202					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)		TGGCCCCGGCGCGCGAACTCC	0.692																																																	0								ENSG00000146555						4	4	4					7																	4304978		1895	3821	5716	SDK1	SO:0001583	missense	0			-	HGNC	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.6604G>C	7.37:g.4304978G>C	ENSP00000385899:p.Ala2202Pro	Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	54	21.74	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A2202P	ENST00000404826.2	37	c.6604	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062858	0.36373	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.61859	0.07;0.09	4.49	1.24	0.21308	.	0.372941	0.24933	N	0.034458	T	0.49592	0.1566	L	0.36672	1.1	0.30645	N	0.756032	D;P;P	0.54397	0.966;0.946;0.622	P;P;B	0.51453	0.67;0.521;0.208	T	0.53272	-0.8462	10	0.87932	D	0	.	3.7189	0.08449	0.2311:0.0:0.4242:0.3447	.	2182;262;2202	F8W6X9;Q7Z5N4-2;Q7Z5N4	.;.;SDK1_HUMAN	P	2202;450;2182	ENSP00000385899:A2202P;ENSP00000374182:A2182P	ENSP00000374182:A2182P	A	+	1	0	SDK1	4271504	1.000000	0.71417	0.983000	0.44433	0.515000	0.34225	0.627000	0.24506	0.347000	0.23924	0.456000	0.33151	GCG	-	NULL		0.692	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	G	NM_152744	-		4304978	1	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	SNP	1.000	C	C	4304978	G	C	4304978	3	2	205	1	0	0	0	0	1	0	0	0	13976	1087	38	4	6782	4	SDK1	7	4304978	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1677497	4304978	154833685	189	16710											
TNRC18	84629	genome.wustl.edu	37	chr7	5427839	5427839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcagcgaccacggcgGcctcctcttcggcgcggctg	16	15	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:5427839G>A	ENST00000430969.1	-	5	1964	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A539V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	539							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACCACGGCGGCCTCCTCTTC	0.701																																																	0								ENSG00000182095						5	7	6					7																	5427839		1866	4016	5882	TNRC18	SO:0001583	missense	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1616C>T	7.37:g.5427839G>A	ENSP00000395538:p.Ala539Val	Somatic	0	11	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A539V	ENST00000430969.1	37	c.1616	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	7.095	0.573014	0.13623	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.13901	2.55;2.55	4.68	1.65	0.23941	.	.	.	.	.	T	0.12732	0.0309	L	0.54323	1.7	0.18873	N	0.999989	B	0.10296	0.003	B	0.06405	0.002	T	0.25293	-1.0136	9	0.42905	T	0.14	.	5.7887	0.18349	0.0975:0.0:0.6006:0.3019	.	539	O15417	TNC18_HUMAN	V	539	ENSP00000382452:A539V;ENSP00000395538:A539V	ENSP00000382452:A539V	A	-	2	0	TNRC18	5394365	0.994000	0.37717	0.235000	0.24058	0.386000	0.30323	1.962000	0.40442	0.342000	0.23796	0.450000	0.29827	GCC	-	NULL		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		G		-		5427839	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	SNP	0.196	A	A	5427839	G	A	5427839	3	1	205	1	0	0	0	0	1	0	0	0	16346	1203	42	2	7394	2	TNRC18	7	5427839	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1122861	5427839	153710824	190	16711											
ABCB5	340273	genome.wustl.edu	37	chr7	20762706	20762706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggactttcagttatcatttCctttatatatggatgggaga	10	5	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:20762706C>T	ENST00000404938.2	+	21	3141	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	ABCB5_ENST00000258738.6_Missense_Mutation_p.S385F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	830	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTATCATTTCCTTTATATAT	0.413																																																	0								ENSG00000004846						162	158	159					7																	20762706		2203	4300	6503	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2489C>T	7.37:g.20762706C>T	ENSP00000384881:p.Ser830Phe	Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.30	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S385F	ENST00000404938.2	37	c.1154	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641347	0.47153	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.80304	-1.36;-1.36	4.75	4.75	0.60458	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.103861	0.41712	D	0.000832	D	0.90504	0.7025	M	0.86420	2.815	0.50632	D	0.999885	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.79108	0.977;0.982;0.992	D	0.91960	0.5578	10	0.87932	D	0	.	15.6473	0.77065	0.0:1.0:0.0:0.0	.	830;8;385	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	F	830;385	ENSP00000384881:S830F;ENSP00000258738:S385F	ENSP00000258738:S385F	S	+	2	0	ABCB5	20729231	1.000000	0.71417	0.707000	0.30419	0.025000	0.11179	6.241000	0.72369	2.636000	0.89361	0.655000	0.94253	TCC	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.413	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	C	NM_178559	-		20762706	1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20762706	C	T	20762706	3	4	205	1	0	0	0	0	1	0	0	0	44	855	30	2	2608	2	ABCB5	7	20762706	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	15334867	20762706	138375957	191	16712											
INHBA	3624	genome.wustl.edu	37	chr7	41729832	41729832	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagggagctcttgccctGgtccagcaaccgctggatgc	13	14	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:41729832G>A	ENST00000242208.4	-	3	943	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q233*|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	233					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTTGCCCTGGTCCAGCAAC	0.562										TSP Lung(11;0.080)																																							0								ENSG00000122641						51	49	50					7																	41729832		2203	4300	6503	INHBA	SO:0001587	stop_gained	0			-	HGNC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.697C>T	7.37:g.41729832G>A	ENSP00000242208:p.Gln233*	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	58	19.44	Q14599	Nonsense_Mutation	SNP							pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.Q233*	ENST00000242208.4	37	c.697	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	37	6.634614	0.97722	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	.	.	.	6.06	6.06	0.98353	.	0.352984	0.31082	N	0.008290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-26.8379	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000242208:Q233X	Q	-	1	0	INHBA	41696357	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.119000	0.41958	2.882000	0.98803	0.655000	0.94253	CAG	-	pfam_TGF-b_N		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	protein_coding	OTTHUMT00000250793.1	G		-		41729832	-1	no_errors	ENST00000242208	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	41729832	G	A	41729832	4	1	205	1	0	0	0	0	0	1	0	0	7743	1357	47	2	587	2	INHBA	7	41729832	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	20967126	41729832	117408831	192	16713											
ADCY1	107	genome.wustl.edu	37	chr7	45697426	45697426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgcgcaagtggcagtacGacgtgtggtccaatgatgtg	15	8	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:45697426G>A	ENST00000297323.7	+	6	1271	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	ADCY1_ENST00000432715.1_Missense_Mutation_p.D192N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	417					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTGGCAGTACGACGTGTGGTC	0.617																																																	0								ENSG00000164742						117	85	96					7																	45697426		2203	4300	6503	ADCY1	SO:0001583	missense	0			-	HGNC	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1249G>A	7.37:g.45697426G>A	ENSP00000297323:p.Asp417Asn	Somatic	0	68	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	A4D2L8|Q75MI1	Missense_Mutation	SNP							pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D417N	ENST00000297323.7	37	c.1249	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592770	0.86953	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.85411	-1.98;-1.98	4.44	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95686	0.8597	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97292	0.9925	10	0.87932	D	0	.	14.9371	0.70964	0.0:0.0:1.0:0.0	.	417;192	Q08828;C9J1J0	ADCY1_HUMAN;.	N	192;417;417	ENSP00000392721:D192N;ENSP00000297323:D417N	ENSP00000297323:D417N	D	+	1	0	ADCY1	45663951	1.000000	0.71417	0.102000	0.21198	0.728000	0.41692	8.926000	0.92839	2.446000	0.82766	0.655000	0.94253	GAC	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.617	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	protein_coding	OTTHUMT00000340055.2	G	NM_021116	-		45697426	1	no_errors	ENST00000297323	ensembl	human	known	74_37	missense	SNP	0.998	A	A	45697426	G	A	45697426	3	1	205	1	0	0	0	0	1	0	0	0	292	1058	37	1	1271	1	ADCY1	7	45697426	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3967594	45697426	113441237	193	16714											
ELN	2006	genome.wustl.edu	37	chr7	73470692	73470692	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgtcggagtcggaggtatCcctggagtcgcaggtgtccc	17	10	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:73470692C>T	ENST00000252034.7	+	20	1641	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	ELN_ENST00000320492.7_Intron|ELN_ENST00000445912.1_Silent_p.I414I|ELN_ENST00000358929.4_Silent_p.I414I|ELN_ENST00000380553.4_Silent_p.I297I|ELN_ENST00000357036.5_Silent_p.I419I|ELN_ENST00000380584.4_Silent_p.I400I|ELN_ENST00000458204.1_Silent_p.I404I|ELN_ENST00000429192.1_Silent_p.I419I|ELN_ENST00000414324.1_Silent_p.I409I|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380575.4_Silent_p.I404I|ELN_ENST00000380562.4_Silent_p.I414I|ELN_ENST00000320399.6_Silent_p.I414I|ELN_ENST00000380576.5_Silent_p.I414I	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				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)			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)				TCGGAGGTATCCCTGGAGTCG	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0								ENSG00000049540						114	116	115					7																	73470692		2203	4300	6503	ELN	SO:0001819	synonymous_variant	0			-	HGNC		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.1242C>T	7.37:g.73470692C>T		Somatic	0	110	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	101	12.17	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP							prints_Tropoelastin	p.I414	ENST00000252034.7	37	c.1242	CCDS5562.2	7																																																																																			-	NULL		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	C	NM_000501	-		73470692	1	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	SNP	0.009	T	T	73470692	C	T	73470692	2	4	205	1	0	0	0	0	0	0	0	1	5073	845	30	2		2	ELN	7	73470692	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	27773266	73470692	85667971	194	16715											
NCF1	653361	genome.wustl.edu	37	chr7	74197917	74197917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggctggatcccagcgtcCttcctcgagcccctggacag	12	16	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:74197917C>T	ENST00000289473.4	+	7	694	c.624C>T	c.(622-624)tcC>tcT	p.S208S	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	208	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	TCCCAGCGTCCTTCCTCGAGC	0.637																																																	0								ENSG00000158517						69	61	64					7																	74197917		2202	4298	6500	NCF1	SO:0001819	synonymous_variant	0			-	HGNC	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.624C>T	7.37:g.74197917C>T		Somatic	0	86	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	80	13.98	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP							pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX	p.S208	ENST00000289473.4	37	c.624	CCDS34657.1	7																																																																																			-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	protein_coding	OTTHUMT00000314560.1	C	NM_000265	-		74197917	1	no_errors	ENST00000289473	ensembl	human	known	74_37	silent	SNP	0.998	T	T	74197917	C	T	74197917	2	4	205	1	0	0	0	0	0	0	0	1	10218	668	24	2		2	NCF1	7	74197917	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	727225	74197917	84940746	195	16716											
PCLO	27445	genome.wustl.edu	37	chr7	82579048	82579048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagtaaaggactttggggGatttgggtggggaaggagcc	20	3	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:82579048G>A	ENST00000333891.9	-	6	11193	c.10856C>T	c.(10855-10857)tCc>tTc	p.S3619F	PCLO_ENST00000437081.1_Missense_Mutation_p.S339F|PCLO_ENST00000423517.2_Missense_Mutation_p.S3619F	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						GACTTTGGGGGATTTGGGTGG	0.483																																																	0								ENSG00000186472						103	104	104					7																	82579048		2014	4197	6211	PCLO	SO:0001583	missense	0			-	HGNC	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.10856C>T	7.37:g.82579048G>A	ENSP00000334319:p.Ser3619Phe	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S3619F	ENST00000333891.9	37	c.10856	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640055	0.67244	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.30981	1.51;1.57	5.61	5.61	0.85477	.	.	.	.	.	T	0.59280	0.2182	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.61768	-0.6995	9	0.87932	D	0	.	19.6465	0.95778	0.0:0.0:1.0:0.0	.	3550;3619;3619	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	3550;3619;3619;339	ENSP00000334319:S3619F;ENSP00000388393:S3619F	ENSP00000334319:S3619F	S	-	2	0	PCLO	82416984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.642000	0.89623	0.650000	0.86243	TCC	-	NULL		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	G	NM_014510	-		82579048	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82579048	G	A	82579048	3	1	205	1	0	0	0	0	1	0	0	0	11585	1174	41	2	4669	2	PCLO	7	82579048	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	8381131	82579048	76559615	196	16717											
CYP3A4	1576	genome.wustl.edu	37	chr7	99358558	99358558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtccacttccaaaggGtgtgtatatgtaaggatcta	11	7	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:99358558G>A	ENST00000336411.2	-	12	1483	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	CYP3A4_ENST00000354593.2_Missense_Mutation_p.P284S	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	434					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CTTCCAAAGGGTGTGTATATG	0.403																																																	0								ENSG00000160868						363	318	333					7																	99358558		2203	4300	6503	CYP3A4	SO:0001583	missense	0			-	HGNC	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1300C>T	7.37:g.99358558G>A	ENSP00000337915:p.Pro434Ser	Somatic	0	82	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	98	16.95	P05184|Q16757|Q9UK50	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.P434S	ENST00000336411.2	37	c.1300	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513318	0.44660	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	D;D	0.83837	-1.77;-1.77	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.93471	0.7917	H	0.95151	3.63	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	0.999;1.0;0.997;0.997;0.997	D	0.95319	0.8419	10	0.87932	D	0	.	14.9515	0.71077	0.0:0.0:1.0:0.0	.	284;361;434;434;434	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	S	284;434	ENSP00000346607:P284S;ENSP00000337915:P434S	ENSP00000337915:P434S	P	-	1	0	CYP3A4	99196494	1.000000	0.71417	0.896000	0.35187	0.036000	0.12997	6.202000	0.72131	2.192000	0.70111	0.563000	0.77884	CCC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B		0.403	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	protein_coding	OTTHUMT00000345059.1	G		-		99358558	-1	no_errors	ENST00000336411	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99358558	G	A	99358558	3	1	205	1	0	0	0	0	1	0	0	0	4180	1261	44	2	219	2	CYP3A4	7	99358558	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	16779510	99358558	59780105	197	16718											
RELN	5649	genome.wustl.edu	37	chr7	103301848	103301848	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaagtaaaacctcaggttCccataaccggtagtgtccat	7	11	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:103301848C>T	ENST00000428762.1	-	12	1575	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	RELN_ENST00000424685.2_Silent_p.G472G|RELN_ENST00000343529.5_Silent_p.G472G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	472					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)		ACCTCAGGTTCCCATAACCGG	0.438																																					NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056						166	118	134					7																	103301848		2203	4300	6503	RELN	SO:0001819	synonymous_variant	0			-	HGNC		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.1416G>A	7.37:g.103301848C>T		Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.42	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP							pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G472	ENST00000428762.1	37	c.1416	CCDS47680.1	7																																																																																			-	NULL		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	C	NM_005045	-		103301848	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	SNP	0.998	T	T	103301848	C	T	103301848	2	4	205	1	0	0	0	0	0	0	0	1	13228	842	30	2		2	RELN	7	103301848	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3943290	103301848	55836815	198	16719											
SLC13A1	6561	genome.wustl.edu	37	chr7	122759271	122759271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaggagataatttatttCctatccacttagataatcca	5	9	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:122759271C>T	ENST00000194130.2	-	13	1415	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	459					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)	TAATTTATTTCCTATCCACTT	0.323																																																	0								ENSG00000081800						70	75	73					7																	122759271		2203	4300	6503	SLC13A1	SO:0001583	missense	0			-	HGNC		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.1376G>A	7.37:g.122759271C>T	ENSP00000194130:p.Gly459Glu	Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q9H5Z0	Missense_Mutation	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.G459E	ENST00000194130.2	37	c.1376	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508554	0.64410	.	.	ENSG00000081800	ENST00000194130	T	0.04706	3.57	5.53	4.62	0.57501	.	0.106551	0.64402	D	0.000008	T	0.32164	0.0820	H	0.95950	3.745	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	T	0.52480	-0.8570	10	0.87932	D	0	.	14.5294	0.67915	0.0:0.501:0.499:0.0	.	459;459	A4D0X1;Q9BZW2	.;S13A1_HUMAN	E	459	ENSP00000194130:G459E	ENSP00000194130:G459E	G	-	2	0	SLC13A1	122546507	0.652000	0.27349	1.000000	0.80357	0.943000	0.58893	1.238000	0.32707	1.219000	0.43474	0.591000	0.81541	GGA	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom		0.323	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	protein_coding	OTTHUMT00000347404.1	C	NM_022444	-		122759271	-1	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	SNP	0.895	T	T	122759271	C	T	122759271	3	4	205	1	0	0	0	0	1	0	0	0	14399	855	30	2	423	2	SLC13A1	7	122759271	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	19457423	122759271	36379392	199	16720											
SLC13A1	6561	genome.wustl.edu	37	chr7	122774576	122774576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaggcaacgacagtcagGatagcgtctgtgtgaaaaca	13	7	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:122774576G>A	ENST00000194130.2	-	8	859	c.820C>T	c.(820-822)Cct>Tct	p.P274S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	274					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)	CGACAGTCAGGATAGCGTCTG	0.483																																																	0								ENSG00000081800						167	136	146					7																	122774576		2203	4300	6503	SLC13A1	SO:0001583	missense	0			-	HGNC		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.820C>T	7.37:g.122774576G>A	ENSP00000194130:p.Pro274Ser	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	Q9H5Z0	Missense_Mutation	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.P274S	ENST00000194130.2	37	c.820	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841172	0.71488	.	.	ENSG00000081800	ENST00000194130	T	0.02631	4.22	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00382	-1.1775	10	0.87932	D	0	-12.1307	17.7332	0.88384	0.0:0.0:1.0:0.0	.	274;274	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	274	ENSP00000194130:P274S	ENSP00000194130:P274S	P	-	1	0	SLC13A1	122561812	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	6.253000	0.72453	2.865000	0.98341	0.655000	0.94253	CCT	-	pfam_Na/sul_symport		0.483	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	protein_coding	OTTHUMT00000347404.1	G	NM_022444	-		122774576	-1	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122774576	G	A	122774576	3	1	205	1	0	0	0	0	1	0	0	0	14399	1174	41	2	999	2	SLC13A1	7	122774576	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	15305	122774576	36364087	200	16721											
KIAA1549	57670	genome.wustl.edu	37	chr7	138583853	138583853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtaccggattgtcatctCcctccagcctcgacacattt	7	15	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:138583853C>T	ENST00000422774.1	-	9	3743	c.3695G>A	c.(3694-3696)gGa>gAa	p.G1232E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1182E|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1232E			Q9HCM3	K1549_HUMAN	KIAA1549	1232						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTGTCATCTCCCTCCAGCCT	0.463			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0								ENSG00000122778						211	197	201					7																	138583853		2002	4169	6171	KIAA1549	SO:0001583	missense	0			-	HGNC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3695G>A	7.37:g.138583853C>T	ENSP00000416040:p.Gly1232Glu	Somatic	0	59	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	68	18.07	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP							NULL	p.G1232E	ENST00000422774.1	37	c.3695	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607600	0.87157	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.65549	-0.14;-0.11;-0.16	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.78456	2.415	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	T	0.81795	-0.0769	10	0.56958	D	0.05	.	16.4521	0.83994	0.0:1.0:0.0:0.0	.	1232;16;1232;16	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	E	1232;1182;1232	ENSP00000406661:G1232E;ENSP00000242365:G1182E;ENSP00000416040:G1232E	ENSP00000242365:G1182E	G	-	2	0	KIAA1549	138234393	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	5.535000	0.67173	2.331000	0.79229	0.462000	0.41574	GGA	-	NULL		0.463	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	protein_coding	OTTHUMT00000348092.1	C		-		138583853	-1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	SNP	1.000	T	T	138583853	C	T	138583853	3	4	205	1	0	0	0	0	1	0	0	0	8246	855	30	2	2205	2	KIAA1549	7	138583853	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	15809277	138583853	20554810	201	16722											
WEE2	494551	genome.wustl.edu	37	chr7	141427177	141427177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatacagttctccggccttCcctgggaaaaacagaagagc	9	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:141427177C>T	ENST00000397541.2	+	10	1872	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	489					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)					CTCCGGCCTTCCCTGGGAAAA	0.468																																																	0								ENSG00000214102						118	117	117					7																	141427177		1850	4093	5943	WEE2	SO:0001583	missense	0			-	HGNC	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.1466C>T	7.37:g.141427177C>T	ENSP00000380675:p.Ser489Phe	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	p.S489F	ENST00000397541.2	37	c.1466	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	C	4.343	0.063010	0.08388	.	.	ENSG00000214102	ENST00000397541	T	0.38887	1.11	5.6	2.81	0.32909	Protein kinase-like domain (1);	0.498360	0.20028	N	0.100776	T	0.29061	0.0722	L	0.46157	1.445	0.18873	N	0.999988	B	0.13145	0.007	B	0.08055	0.003	T	0.28618	-1.0038	10	0.08837	T	0.75	.	7.1265	0.25475	0.0:0.5918:0.2657:0.1424	.	489	P0C1S8	WEE2_HUMAN	F	489	ENSP00000380675:S489F	ENSP00000380675:S489F	S	+	2	0	WEE2	141073646	0.043000	0.20138	0.364000	0.25888	0.038000	0.13279	0.478000	0.22212	0.401000	0.25424	-0.127000	0.14921	TCC	-	superfamily_Kinase-like_dom,pirsf_Wee1-like_protein_kinase		0.468	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	protein_coding	OTTHUMT00000349091.1	C	NM_001105558	-		141427177	1	no_errors	ENST00000397541	ensembl	human	known	74_37	missense	SNP	0.467	T	T	141427177	C	T	141427177	3	4	205	1	0	0	0	0	1	0	0	0	17352	855	30	2	1504	2	WEE2	7	141427177	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2843324	141427177	17711486	202	16723											
TAS2R38	5726	genome.wustl.edu	37	chr7	141673292	141673292	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaacagcagtccatgcagGaaaagccggctgatgctgag	14	9	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:141673292G>A	ENST00000547270.1	-	1	281	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	66					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)					GTCCATGCAGGAAAAGCCGGC	0.493																																																	0								ENSG00000257138						126	119	121					7																	141673292		2203	4300	6503	TAS2R38	SO:0001819	synonymous_variant	0			-	HGNC	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.198C>T	7.37:g.141673292G>A		Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP							pfam_TAS2_rcpt	p.F66	ENST00000547270.1	37	c.198	CCDS34765.1	7																																																																																			-	pfam_TAS2_rcpt		0.493	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	protein_coding	OTTHUMT00000350810.2	G	NM_176817	-		141673292	-1	no_errors	ENST00000547270	ensembl	human	known	74_37	silent	SNP	0.912	A	A	141673292	G	A	141673292	2	1	205	1	0	0	0	0	0	0	0	1	15582	1165	41	2		2	TAS2R38	7	141673292	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	246115	141673292	17465371	203	16724											
MGAM	8972	genome.wustl.edu	37	chr7	141756678	141756678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacataccgcaccacaggggGagttctggacttttatgtgt	12	9	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:141756678G>A	ENST00000549489.2	+	30	3724	c.3629G>A	c.(3628-3630)gGa>gAa	p.G1210E	MGAM_ENST00000475668.2_Missense_Mutation_p.G1210E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1210	Glucoamylase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACCACAGGGGGAGTTCTGGAC	0.493																																																	0								ENSG00000257335						88	85	86					7																	141756678		1931	4134	6065	MGAM	SO:0001583	missense	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3629G>A	7.37:g.141756678G>A	ENSP00000447378:p.Gly1210Glu	Somatic	0	78	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	122	17.01	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G1210E	ENST00000549489.2	37	c.3629	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894886	0.72639	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.88354	-2.37	4.17	4.17	0.49024	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.35291	N	0.003319	D	0.95705	0.8603	M	0.93197	3.39	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	D	0.96986	0.9718	10	0.87932	D	0	.	15.2099	0.73214	0.0:0.0:1.0:0.0	.	1210	O43451	MGA_HUMAN	E	1210;1210;1087	ENSP00000447378:G1210E	ENSP00000316431:G1087E	G	+	2	0	MGAM	141403147	1.000000	0.71417	0.991000	0.47740	0.575000	0.36095	9.735000	0.98825	1.857000	0.53885	0.313000	0.20887	GGA	-	superfamily_Gal_mutarotase_SF_dom		0.493	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	G		-		141756678	1	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	SNP	1.000	A	A	141756678	G	A	141756678	3	1	205	1	0	0	0	0	1	0	0	0	9543	1174	41	2	3743	2	MGAM	7	141756678	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	83386	141756678	17381985	204	16725											
C7orf34	3792	genome.wustl.edu	37	chr7	142636666	142636666	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcaggaggtgcacggatCctgctgggcactgggagcag	20	9	0	0	rs200663678		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:142636666C>T	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.S8F	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTGCACGGATCCTGCTGGGCA	0.627																																																	0								ENSG00000165131	C	PHE/SER	5,1379		0,5,687	42	50	48		23	-1.4	0	7		48	0,3182		0,0,1591	yes	missense	C7orf34	NM_178829.4	155	0,5,2278	TT,TC,CC		0.0,0.3613,0.1095		8/148	142636666	5,4561	692	1591	2283	C7orf34	SO:0001628	intergenic_variant	0			-	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636666C>T		Somatic	0	25	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP							NULL	p.S8F	ENST00000355265.2	37	c.23	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	c	10.39	1.338103	0.24253	0.003613	0.0	ENSG00000165131	ENST00000409607	.	.	.	3.66	-1.38	0.09027	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43393	-0.9394	5	0.62326	D	0.03	.	8.2631	0.31797	0.0:0.329:0.5656:0.1055	.	.	.	.	F	8	.	ENSP00000386450:S8F	S	+	2	0	C7orf34	142346788	0.766000	0.28496	0.000000	0.03702	0.038000	0.13279	0.711000	0.25764	-0.271000	0.09272	-0.280000	0.10049	TCC	-	NULL		0.627	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf34	protein_coding	OTTHUMT00000347671.2	C	NM_000420	rs200663678		142636666	1	no_errors	ENST00000409607	ensembl	human	known	74_37	missense	SNP	0.000	T	T	142636666	C	T	142636666	1	4	205	0	1	0	0	0	0	0	0	0	2391	855	30	2		2	C7orf34	7	142636666	IGR	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	879988	142636666	16501997	205	16726											
OR2A14	135941	genome.wustl.edu	37	chr7	143826692	143826692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccctttagttctcatcCtgagcctgcccttctgcggg	10	14	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr7:143826692C>T	ENST00000408899.2	+	1	542	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGTTCTCATCCTGAGCCTGCC	0.542																																																	0								ENSG00000221938						212	231	225					7																	143826692		2095	4236	6331	OR2A14	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.487C>T	7.37:g.143826692C>T		Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	Q6IF41|Q8NGT8	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L163	ENST00000408899.2	37	c.487	CCDS43672.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	protein_coding	OTTHUMT00000349980.1	C		-		143826692	1	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	SNP	0.002	T	T	143826692	C	T	143826692	2	4	205	1	0	0	0	0	0	0	0	1	10978	680	24	2		2	OR2A14	7	143826692	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1190026	143826692	15311971	206	16727											
SGK223	157285	genome.wustl.edu	37	chr8	8235440	8235440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtgcaggccgaccatgGtgtaagctgggggacagcga	18	8	0	0	rs566296772		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:8235440G>A	ENST00000520004.1	-	3	743	c.479C>T	c.(478-480)aCc>aTc	p.T160I	SGK223_ENST00000330777.4_Missense_Mutation_p.T160I			Q86YV5	SG223_HUMAN		160							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCCGACCATGGTGTAAGCTGG	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		18388	0		0	False		,,,				2504	0				GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						71	78	75					8																	8235440		2034	4183	6217	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.479C>T	8.37:g.8235440G>A	ENSP00000428054:p.Thr160Ile	Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	69	17.86	Q8N3N5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.T160I	ENST00000520004.1	37	c.479	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215304	0.39102	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58060	0.36;0.36	4.98	4.98	0.66077	.	0.993514	0.08159	N	0.988766	T	0.43433	0.1247	N	0.19112	0.55	0.36421	D	0.864291	B	0.26672	0.156	B	0.21917	0.037	T	0.34825	-0.9813	10	0.49607	T	0.09	.	16.2821	0.82697	0.0:0.0:1.0:0.0	.	160	Q86YV5	SG223_HUMAN	I	160	ENSP00000330930:T160I;ENSP00000428054:T160I	ENSP00000330930:T160I	T	-	2	0	AC068353.1	8272850	1.000000	0.71417	0.921000	0.36526	0.694000	0.40290	5.708000	0.68377	2.686000	0.91538	0.655000	0.94253	ACC	-	NULL		0.612	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	G		-		8235440	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.990	A	A	8235440	G	A	8235440	3	1	205	1	0	0	0	0	1	0	0	0	14218	1261	44	2	3745	2	SGK223	8	8235440	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		8235440	138128582	207	16728											
BMP1	649	genome.wustl.edu	37	chr8	22033795	22033795	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtgtgtggcccgatggggtCatcccctttgtcattggggg	16	10	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:22033795C>T	ENST00000306385.5	+	3	1072	c.402C>T	c.(400-402)gtC>gtT	p.V134V	BMP1_ENST00000354870.5_Silent_p.V134V|BMP1_ENST00000397816.3_Silent_p.V134V|BMP1_ENST00000306349.8_Silent_p.V134V|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000397814.3_Silent_p.V134V	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	134	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCGATGGGGTCATCCCCTTTG	0.647																																																	0								ENSG00000168487						104	82	89					8																	22033795		2203	4300	6503	BMP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.402C>T	8.37:g.22033795C>T		Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP							pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.V134	ENST00000306385.5	37	c.402	CCDS6026.1	8																																																																																			-	pirsf_BMP_1/tolloid-like,pfam_Peptidase_M12A,smart_Peptidase_Metallo		0.647	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	protein_coding	OTTHUMT00000214995.2	C	NM_006132	-		22033795	1	no_errors	ENST00000306385	ensembl	human	known	74_37	silent	SNP	1.000	T	T	22033795	C	T	22033795	2	4	205	1	0	0	0	0	0	0	0	1	1456	813	29	2		2	BMP1	8	22033795	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	13798355	22033795	124330227	208	16729											
ADAM28	10863	genome.wustl.edu	37	chr8	24193162	24193162	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggggaccaggtaggagGacaaatcctttcccctgtgc	13	11	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:24193162G>A	ENST00000265769.4	+	14	1677				RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.R292R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.R525R	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGTAGGAGGACAAATCCTT	0.517																																					NSCLC(193;488 2149 22258 34798 40734)												0								ENSG00000042980						76	70	72					8																	24193162		2203	4300	6503	ADAM28	SO:0001627	intron_variant	0			-	HGNC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1567+8G>A	8.37:g.24193162G>A		Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R525	ENST00000265769.4	37	c.1575	CCDS34865.1	8																																																																																			-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.517	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	protein_coding	OTTHUMT00000375441.2	G	NM_021778	-		24193162	1	no_errors	ENST00000437154	ensembl	human	known	74_37	silent	SNP	0.000	A	A	24193162	G	A	24193162	1	1	205	0	1	0	0	0	0	0	0	0	246	1165	41	2		2	ADAM28	8	24193162	Intron	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2159367	24193162	122170860	209	16730											
ADAM7	8756	genome.wustl.edu	37	chr8	24364997	24364997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttatttattatagaaacCtgcaagtaaagattcaagag	6	4	1	3	rs80271195	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:24364997C>T	ENST00000175238.6	+	21	2296	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P760L|ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	738						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATAGAAACCTGCAAGTAAA	0.398													C|||	5	0.000998403	0.003	0	5008	,	,		17297	0		0.001	False		,,,				2504	0																0								ENSG00000069206	C	LEU/PRO	8,4398	14.3+/-33.2	0,8,2195	81	87	85		2213	2.2	0.9	8	dbSNP_131	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADAM7	NM_003817.2	98	0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692	probably-damaging	738/755	24364997	9,12997	2203	4300	6503	ADAM7	SO:0001583	missense	0			GMAF=0	HGNC	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2213C>T	8.37:g.24364997C>T	ENSP00000175238:p.Pro738Leu	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	49	15.52	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P738L	ENST00000175238.6	37	c.2213	CCDS6045.1	8	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.43	2.534026	0.45073	0.001816	1.16E-4	ENSG00000069206	ENST00000175238;ENST00000380789	T;T	0.27720	1.65;1.65	4.08	2.21	0.28008	.	0.640100	0.13950	N	0.351583	T	0.25121	0.0610	L	0.51422	1.61	0.58432	D	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.12502	-1.0545	10	0.72032	D	0.01	.	4.7721	0.13160	0.2128:0.6765:0.0:0.1107	.	738	Q9H2U9	ADAM7_HUMAN	L	738;760	ENSP00000175238:P738L;ENSP00000370166:P760L	ENSP00000175238:P738L	P	+	2	0	ADAM7	24420887	0.999000	0.42202	0.915000	0.36163	0.717000	0.41224	0.936000	0.28938	0.627000	0.30340	0.455000	0.32223	CCT	-	NULL		0.398	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	protein_coding	OTTHUMT00000215150.1	C	NM_003817	rs80271195		24364997	1	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	SNP	0.936	T	T	24364997	C	T	24364997	3	4	205	1	0	0	0	0	1	0	0	0	251	681	24	2	2295	2	ADAM7	8	24364997	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	171835	24364997	121999025	210	16731											
PENK	5179	genome.wustl.edu	37	chr8	57353921	57353921	+	Silent	SNP	G	G	A													tcgtcggagggcagagcctcGgcaaagcgcttcaggaaacc							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:57353921G>A	ENST00000314922.3	-	2	790	c.714C>T	c.(712-714)gcC>gcT	p.A238A	PENK_ENST00000451791.2_Silent_p.A238A|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	238					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCAGAGCCTCGGCAAAGCGCT	0.478																																																	0								ENSG00000181195						81	87	85					8																	57353921		2203	4300	6503	PENK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.714C>T	8.37:g.57353921G>A		Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	57	13.64	B2RC23|Q6FHC6|Q6FHE6	Silent	SNP							pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.A238	ENST00000314922.3	37	c.714	CCDS6168.1	8																																																																																			-	NULL		0.478	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	protein_coding	OTTHUMT00000378645.1	G		-		57353921	-1	no_errors	ENST00000314922	ensembl	human	known	74_37	silent	SNP	0.003	A	A	57353921	G	A	57353921	2	1	205	1	0	0	0	0	0	0	0	1	11729	1103	39	1		1	PENK	8	57353921	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	32988924	57353921	89010101	211	16732	481	2									
PENK	5179	genome.wustl.edu	37	chr8	57353922	57353922	+	Missense_Mutation	SNP	G	G	A													cgtcggagggcagagcctcgGcaaagcgcttcaggaaacct							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:57353922G>A	ENST00000314922.3	-	2	789	c.713C>T	c.(712-714)gCc>gTc	p.A238V	PENK_ENST00000451791.2_Missense_Mutation_p.A238V|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	238					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGAGCCTCGGCAAAGCGCTT	0.478																																																	0								ENSG00000181195						81	87	85					8																	57353922		2203	4300	6503	PENK	SO:0001583	missense	0			-	HGNC		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.713C>T	8.37:g.57353922G>A	ENSP00000324248:p.Ala238Val	Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP							pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.A238V	ENST00000314922.3	37	c.713	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845347	0.51164	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.19806	2.12;2.12	5.91	5.02	0.67125	.	0.115747	0.56097	D	0.000029	T	0.21267	0.0512	L	0.49126	1.545	0.80722	D	1	P	0.40578	0.722	B	0.36719	0.231	T	0.01869	-1.1257	10	0.29301	T	0.29	-16.6266	16.111	0.81263	0.0:0.1337:0.8663:0.0	.	238	P01210	PENK_HUMAN	V	238	ENSP00000324248:A238V;ENSP00000400894:A238V	ENSP00000324248:A238V	A	-	2	0	PENK	57516476	0.892000	0.30473	0.599000	0.28851	0.914000	0.54420	4.084000	0.57650	1.459000	0.47892	0.655000	0.94253	GCC	-	NULL		0.478	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	protein_coding	OTTHUMT00000378645.1	G		-		57353922	-1	no_errors	ENST00000314922	ensembl	human	known	74_37	missense	SNP	0.850	A	A	57353922	G	A	57353922	3	1	205	1	0	0	0	0	1	0	0	0	11729	1203	42	2	94	2	PENK	8	57353922	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1	57353922	89010100	212	16733	481	2									
ASPH	444	genome.wustl.edu	37	chr8	62415936	62415936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaaattgctggaaggctGcgtctctgctgtggtgtcag	14	8	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:62415936G>A	ENST00000379454.4	-	25	2446	c.2259C>T	c.(2257-2259)cgC>cgT	p.R753R	ASPH_ENST00000541428.1_Silent_p.R724R	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	753					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTGGAAGGCTGCGTCTCTGCT	0.502																																																	0								ENSG00000198363						86	72	77					8																	62415936		2203	4300	6503	ASPH	SO:0001819	synonymous_variant	0			-	HGNC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2259C>T	8.37:g.62415936G>A		Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP							pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R753	ENST00000379454.4	37	c.2259	CCDS34898.1	8																																																																																			-	NULL		0.502	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	protein_coding	OTTHUMT00000378510.3	G	NM_004318	-		62415936	-1	no_errors	ENST00000379454	ensembl	human	known	74_37	silent	SNP	0.984	A	A	62415936	G	A	62415936	2	1	205	1	0	0	0	0	0	0	0	1	1053	1306	46	2		2	ASPH	8	62415936	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5062014	62415936	83948086	213	16734											
C8orf34	116328	genome.wustl.edu	37	chr8	69552622	69552622	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttacagaggatcttaatGatttaagaatggagggagta	12	2	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:69552622G>A	ENST00000539993.1	+	8	1408	c.859G>A	c.(859-861)Gat>Aat	p.D287N	C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N|C8orf34_ENST00000337103.4_Missense_Mutation_p.D262N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	287										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398																																																	0								ENSG00000165084						74	70	71					8																	69552622		2203	4300	6503	C8orf34	SO:0001583	missense	0			-	HGNC	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.859G>A	8.37:g.69552622G>A	ENSP00000438159:p.Asp287Asn	Somatic	0	60	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	70	17.65	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP							superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D373N	ENST00000539993.1	37	c.1117		8	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806582	0.90623	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.64260	0.08;0.15;0.1;-0.09	5.47	5.47	0.80525	.	0.183958	0.56097	D	0.000026	T	0.77691	0.4168	M	0.61703	1.905	0.58432	D	0.999992	D	0.71674	0.998	D	0.81914	0.995	T	0.76008	-0.3116	9	.	.	.	-17.0818	19.333	0.94299	0.0:0.0:1.0:0.0	.	287	Q49A92	CH034_HUMAN	N	373;287;262;31	ENSP00000427820:D373N;ENSP00000438159:D287N;ENSP00000337174:D262N;ENSP00000319532:D31N	.	D	+	1	0	C8orf34	69715176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.571000	0.86741	0.591000	0.81541	GAT	-	NULL		0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	protein_coding		G	NM_052958	-		69552622	1	no_errors	ENST00000518698	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69552622	G	A	69552622	3	1	205	1	0	0	0	0	1	0	0	0	2424	1290	45	2	810	2	C8orf34	8	69552622	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7136686	69552622	76811400	214	16735											
CA2	760	genome.wustl.edu	37	chr8	86392944	86392944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaatggggagggtgaacccGaagaactgatggtggacaac	15	7	1	3	rs143666045		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:86392944G>A	ENST00000285379.5	+	7	939	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	237					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGGTGAACCCGAAGAACTGAT	0.398																																																	0								ENSG00000104267	G	LYS/GLU	0,4406		0,0,2203	101	94	96		709	3.8	0.1	8	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CA2	NM_000067.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	237/261	86392944	1,13005	2203	4300	6503	CA2	SO:0001583	missense	0			-	HGNC	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.709G>A	8.37:g.86392944G>A	ENSP00000285379:p.Glu237Lys	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.E237K	ENST00000285379.5	37	c.709	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386703	0.82902	0.0	1.16E-4	ENSG00000104267	ENST00000285379	D	0.84070	-1.8	5.85	3.84	0.44239	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.365842	0.26045	N	0.026667	T	0.69187	0.3083	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46345	-0.9198	10	0.13108	T	0.6	-0.0349	5.777	0.18285	0.0737:0.1377:0.646:0.1426	.	237	P00918	CAH2_HUMAN	K	237	ENSP00000285379:E237K	ENSP00000285379:E237K	E	+	1	0	CA2	86580196	0.000000	0.05858	0.121000	0.21740	0.881000	0.50899	0.711000	0.25764	2.753000	0.94483	0.655000	0.94253	GAA	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.398	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	protein_coding	OTTHUMT00000381097.2	G	NM_000067	rs143666045		86392944	1	no_errors	ENST00000285379	ensembl	human	known	74_37	missense	SNP	0.003	A	A	86392944	G	A	86392944	3	1	205	1	0	0	0	0	1	0	0	0	2518	1059	37	1	735	1	CA2	8	86392944	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	16840322	86392944	59971078	215	16736											
MMP16	4325	genome.wustl.edu	37	chr8	89086866	89086866	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaattcccgtcgctattttCataaactgcatcgatactag	5	10	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:89086866C>T	ENST00000286614.6	-	7	1470	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	397					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCGCTATTTTCATAAACTGCA	0.418																																																	0								ENSG00000156103						116	116	116					8																	89086866		2203	4300	6503	MMP16	SO:0001583	missense	0			-	HGNC	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1189G>A	8.37:g.89086866C>T	ENSP00000286614:p.Glu397Lys	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	61	15.28	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.E397K	ENST00000286614.6	37	c.1189	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.485540	0.96323	.	.	ENSG00000156103	ENST00000286614	T	0.03004	4.08	4.64	4.64	0.57946	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	M	0.93854	3.465	0.80722	D	1	P;D	0.67145	0.907;0.996	P;D	0.71656	0.702;0.974	T	0.40040	-0.9584	10	0.87932	D	0	.	17.8943	0.88881	0.0:1.0:0.0:0.0	.	397;397	P51512-2;P51512	.;MMP16_HUMAN	K	397	ENSP00000286614:E397K	ENSP00000286614:E397K	E	-	1	0	MMP16	89155982	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.280000	0.76307	0.650000	0.86243	GAA	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	protein_coding	OTTHUMT00000375304.2	C	NM_005941	-		89086866	-1	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89086866	C	T	89086866	3	4	205	1	0	0	0	0	1	0	0	0	9657	835	29	2	806	2	MMP16	8	89086866	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2693922	89086866	57277156	216	16737											
DPY19L4	286148	genome.wustl.edu	37	chr8	95746906	95746906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcattggctgtcttgcagCggttactagtggtatgatgt	12	6	2	1	rs147410800		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:95746906C>T	ENST00000414645.2	+	3	275	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	59						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGTCTTGCAGCGGTTACTAGT	0.348													C|||	1	0.000199681	0	0	5008	,	,		19094	0		0.001	False		,,,				2504	0																0								ENSG00000156162						101	93	96					8																	95746906		2203	4300	6503	DPY19L4	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.176C>T	8.37:g.95746906C>T	ENSP00000389630:p.Ala59Val	Somatic	0	66	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	64	15.79	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP							pfam_Dpy-19	p.A59V	ENST00000414645.2	37	c.176	CCDS34924.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.5	5.008505	0.93346	.	.	ENSG00000156162	ENST00000414645;ENST00000519176	T;T	0.61158	0.13;0.13	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77859	-0.2431	10	0.66056	D	0.02	-13.6839	18.7653	0.91869	0.0:1.0:0.0:0.0	.	59	Q7Z388	D19L4_HUMAN	V	59;30	ENSP00000389630:A59V;ENSP00000430417:A30V	ENSP00000389630:A59V	A	+	2	0	DPY19L4	95816082	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.602000	0.74141	2.480000	0.83734	0.591000	0.81541	GCG	-	pfam_Dpy-19		0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	protein_coding	OTTHUMT00000379339.1	C	NM_181787	rs147410800		95746906	1	no_errors	ENST00000414645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95746906	C	T	95746906	3	4	205	1	0	0	0	0	1	0	0	0	4745	768	27	1	186	1	DPY19L4	8	95746906	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6660040	95746906	50617116	217	16738											
SDC2	6383	genome.wustl.edu	37	chr8	97620692	97620692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttaaacggacagaagtcCtagcaggtgagtagcctggt	13	7	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:97620692C>T	ENST00000302190.4	+	4	1357	c.436C>T	c.(436-438)Cta>Tta	p.L146L	SDC2_ENST00000522911.1_Silent_p.L117L|SDC2_ENST00000518385.1_Silent_p.L110L|SDC2_ENST00000519914.1_Silent_p.L117L	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	146					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GACAGAAGTCCTAGCAGGTGA	0.478																																																	0								ENSG00000169439						81	81	81					8																	97620692		2203	4300	6503	SDC2	SO:0001819	synonymous_variant	0			-	HGNC	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.436C>T	8.37:g.97620692C>T		Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	B3KQA3|Q6PIS6|Q9H6V1	Silent	SNP							pfam_Syndecan/Neurexin_dom,smart_Neurexin-like	p.L146	ENST00000302190.4	37	c.436	CCDS6272.1	8																																																																																			-	pfam_Syndecan/Neurexin_dom		0.478	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC2	protein_coding	OTTHUMT00000379750.1	C	NM_002998	-		97620692	1	no_errors	ENST00000302190	ensembl	human	known	74_37	silent	SNP	1.000	T	T	97620692	C	T	97620692	2	4	205	1	0	0	0	0	0	0	0	1	13960	680	24	2		2	SDC2	8	97620692	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1873786	97620692	48743330	218	16739											
RIMS2	9699	genome.wustl.edu	37	chr8	105260948	105260948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgattttccctggtgttCgcttggcctctgatagccag	11	11	2	2	rs539179964		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:105260948C>T	ENST00000436393.2	+	25	3791	c.3550C>T	c.(3550-3552)Cgc>Tgc	p.R1184C	RIMS2_ENST00000507740.1_Missense_Mutation_p.R980C|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1005C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R102C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1166C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1228					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R980C(2)|p.R1166C(1)|p.R1184C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTGGTGTTCGCTTGGCCTC	0.463										HNSCC(12;0.0054)																																							4	Substitution - Missense(4)	endometrium(4)						ENSG00000176406						113	110	111					8																	105260948		2106	4251	6357	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3550C>T	8.37:g.105260948C>T	ENSP00000390665:p.Arg1184Cys	Somatic	0	73	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	78	20.41	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R1166C	ENST00000436393.2	37	c.3496		8	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531471	0.64972	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21361	2.53;2.24;2.24;2.01;2.44;2.05;2.03	5.34	4.41	0.53225	.	.	.	.	.	T	0.35998	0.0951	L	0.37697	1.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0	D;D;D;P;P	0.76575	0.982;0.988;0.975;0.901;0.901	T	0.08371	-1.0725	9	0.87932	D	0	.	14.5838	0.68310	0.2185:0.7815:0.0:0.0	.	1228;1184;1005;980;1166	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1203;1166;1228;1005;980;1173;1184;102;102	ENSP00000384892:R1166C;ENSP00000262231:R1005C;ENSP00000423559:R980C;ENSP00000386228:R1173C;ENSP00000390665:R1184C;ENSP00000428478:R102C;ENSP00000342051:R102C	ENSP00000262231:R1005C	R	+	1	0	RIMS2	105330124	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.562000	0.45914	2.664000	0.90586	0.650000	0.86243	CGC	-	NULL		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	C	NM_001100117	-		105260948	1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	T	T	105260948	C	T	105260948	3	4	205	1	0	0	0	0	1	0	0	0	13376	884	31	1	3774	1	RIMS2	8	105260948	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7640256	105260948	41103074	219	16740											
COL22A1	169044	genome.wustl.edu	37	chr8	139833396	139833396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgtcaatgggcacactgtCgtagaggcgcttgccaatca	11	12	2	1	rs150603745		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr8:139833396C>T	ENST00000303045.6	-	7	1674	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	COL22A1_ENST00000435777.1_Missense_Mutation_p.D410N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	410	Laminin G-like.				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)			GGCACACTGTCGTAGAGGCGC	0.592										HNSCC(7;0.00092)																																							0								ENSG00000169436	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	161	114	130		1228	5.2	1	8	dbSNP_134	130	0,8600		0,0,4300	no	missense	COL22A1	NM_152888.1	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	410/1627	139833396	1,13005	2203	4300	6503	COL22A1	SO:0001583	missense	0			-	HGNC	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.1228G>A	8.37:g.139833396C>T	ENSP00000303153:p.Asp410Asn	Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP							pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.D410N	ENST00000303045.6	37	c.1228	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514002	0.85389	2.27E-4	0.0	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.02177	4.41;4.41	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.52532	D	0.000075	T	0.09862	0.0242	L	0.50333	1.59	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	T	0.12293	-1.0553	9	.	.	.	.	18.1827	0.89783	0.0:1.0:0.0:0.0	.	410	Q8NFW1	COMA1_HUMAN	N	410	ENSP00000303153:D410N;ENSP00000387655:D410N	.	D	-	1	0	COL22A1	139902578	1.000000	0.71417	0.960000	0.40013	0.843000	0.47879	5.788000	0.69020	2.616000	0.88540	0.558000	0.71614	GAC	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	C	XM_291257	rs150603745		139833396	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	SNP	0.999	T	T	139833396	C	T	139833396	3	4	205	1	0	0	0	0	1	0	0	0	3683	884	31	1	3888	1	COL22A1	8	139833396	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	34572448	139833396	6530626	220	16741											
DMRT3	58524	genome.wustl.edu	37	chr9	990189	990189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagatagtgtccgtggaGgaagggggatacgctgtcca	16	8	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:990189G>A	ENST00000190165.2	+	2	641	c.603G>A	c.(601-603)gaG>gaA	p.E201E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	201					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)		TGTCCGTGGAGGAAGGGGGAT	0.582																																																	0								ENSG00000064218						55	61	59					9																	990189		2203	4300	6503	DMRT3	SO:0001819	synonymous_variant	0			-	HGNC	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.603G>A	9.37:g.990189G>A		Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	30	33.33	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP							pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.E201	ENST00000190165.2	37	c.603	CCDS6443.1	9																																																																																			-	NULL		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	protein_coding	OTTHUMT00000051490.1	G	NM_021240	-		990189	1	no_errors	ENST00000190165	ensembl	human	known	74_37	silent	SNP	0.909	A	A	990189	G	A	990189	2	1	205	1	0	0	0	0	0	0	0	1	4589	991	35	2		2	DMRT3	9	990189	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		990189	140223242	221	16742											
DMRT2	10655	genome.wustl.edu	37	chr9	1056594	1056594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacttatagacagtatcCcttgtcctcaagatttttag	5	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:1056594C>T	ENST00000358146.2	+	3	1007	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.P336L|DMRT2_ENST00000302441.6_Missense_Mutation_p.P336L|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	336					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|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)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGACAGTATCCCTTGTCCTCA	0.478																																																	0								ENSG00000173253						97	102	100					9																	1056594		2203	4300	6503	DMRT2	SO:0001583	missense	0			-	HGNC	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1007C>T	9.37:g.1056594C>T	ENSP00000350865:p.Pro336Leu	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP							pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P336L	ENST00000358146.2	37	c.1007	CCDS6444.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092363	0.76756	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.47869	0.83;0.83;0.83	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71031	-0.4710	10	0.87932	D	0	-17.206	19.2807	0.94051	0.0:1.0:0.0:0.0	.	336;180	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	L	336	ENSP00000371686:P336L;ENSP00000305785:P336L;ENSP00000350865:P336L	ENSP00000305785:P336L	P	+	2	0	DMRT2	1046594	1.000000	0.71417	0.978000	0.43139	0.936000	0.57629	7.276000	0.78559	2.665000	0.90641	0.650000	0.86243	CCC	-	NULL		0.478	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	protein_coding	OTTHUMT00000051492.1	C	NM_006557	-		1056594	1	no_errors	ENST00000302441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1056594	C	T	1056594	3	4	205	1	0	0	0	0	1	0	0	0	4588	623	22	2	1074	2	DMRT2	9	1056594	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	66405	1056594	140156837	222	16743											
C9orf93	203238	genome.wustl.edu	37	chr9	15578931	15578931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaagtctggaatatgacCtagctgttgctagaaaggaa	11	6	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:15578931C>T	ENST00000380701.3	+	4	590	c.262C>T	c.(262-264)Cta>Tta	p.L88L	CCDC171_ENST00000297641.3_Silent_p.L88L|CCDC171_ENST00000535968.1_Silent_p.L88L	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	88																	GGAATATGACCTAGCTGTTGC	0.473																																																	0								ENSG00000164989						114	108	110					9																	15578931		2203	4300	6503	CCDC171	SO:0001819	synonymous_variant	0			-	HGNC	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.262C>T	9.37:g.15578931C>T		Somatic	0	76	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	53	28.38	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP							superfamily_STAT_TF_coiled-coil	p.L88	ENST00000380701.3	37	c.262	CCDS6481.1	9																																																																																			-	NULL		0.473	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	protein_coding	OTTHUMT00000051768.4	C	NM_173550	-		15578931	1	no_errors	ENST00000380701	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15578931	C	T	15578931	2	4	205	1	0	0	0	0	0	0	0	1	2508	680	24	2		2	C9orf93	9	15578931	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	14522337	15578931	125634500	223	16744											
CNTFR	1271	genome.wustl.edu	37	chr9	34552181	34552181	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagagactgctggcagTggcggcagcggcagccaggg	18	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:34552181T>G	ENST00000378980.3	-	9	1389	c.1096A>C	c.(1096-1098)Act>Cct	p.T366P	CNTFR_ENST00000351266.4_Missense_Mutation_p.T366P	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	366					brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CTGCTGGCAGTGGCGGCAGCG	0.682																																																	0								ENSG00000122756						9	11	10					9																	34552181		2136	4226	6362	CNTFR	SO:0001583	missense	0			-	HGNC	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.1096A>C	9.37:g.34552181T>G	ENSP00000368265:p.Thr366Pro	Somatic	0	18	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84	Q5U050	Missense_Mutation	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T366P	ENST00000378980.3	37	c.1096	CCDS6558.1	9	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681468	0.29872	.	.	ENSG00000122756	ENST00000378980;ENST00000351266	T;T	0.54071	0.59;0.59	4.68	-0.302	0.12796	.	0.323032	0.22421	N	0.060291	T	0.28896	0.0717	N	0.25647	0.755	0.31302	N	0.6881550000000001	B	0.31655	0.334	B	0.20577	0.03	T	0.15037	-1.0451	9	0.56958	D	0.05	.	3.7716	0.08643	0.0:0.2972:0.1939:0.5089	.	366	P26992	CNTFR_HUMAN	P	366	ENSP00000368265:T366P;ENSP00000242338:T366P	ENSP00000242338:T366P	T	-	1	0	CNTFR	34542181	1.000000	0.71417	0.951000	0.38953	0.596000	0.36781	1.049000	0.30392	0.172000	0.19760	0.374000	0.22700	ACT	-	NULL		0.682	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	protein_coding	OTTHUMT00000052176.1	T		-		34552181	-1	no_errors	ENST00000351266	ensembl	human	known	74_37	missense	SNP	0.544	G	G	34552181	T	G	34552181	3	3	205	1	0	0	0	0	1	0	0	0	3640	1696	59	5	30	5	CNTFR	9	34552181	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	18973250	34552181	106661250	224	16745											
FAM75A6	389730	genome.wustl.edu	37	chr9	43626627	43626627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacccccagaaccttcCgtgggaagcttttcatgtcc	8	14	2	1	rs559633705	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:43626627C>T	ENST00000332857.6	-	4	2088	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	687					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGAACCTTCCGTGGGAAGCT	0.512													C|||	18	0.00359425	0	0	5008	,	,		13063	0.005		0.001	False		,,,				2504	0.0123																0								ENSG00000185775						1	1	1					9																	43626627		15	131	146	SPATA31A6	SO:0001583	missense	0			-	HGNC		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.2060G>A	9.37:g.43626627C>T	ENSP00000329825:p.Arg687Gln	Somatic	0	144	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	186	15.07		Missense_Mutation	SNP							NULL	p.R687Q	ENST00000332857.6	37	c.2060	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	C	3.858	-0.030503	0.07543	.	.	ENSG00000185775	ENST00000332857	T	0.06371	3.31	2.36	-4.71	0.03279	.	1.927400	0.02603	N	0.101203	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.27229	0.172	B	0.15484	0.013	T	0.36744	-0.9735	10	0.13108	T	0.6	3.304	3.6235	0.08104	0.2763:0.3711:0.0:0.3527	.	687	Q5VVP1	F75A6_HUMAN	Q	687	ENSP00000329825:R687Q	ENSP00000329825:R687Q	R	-	2	0	FAM75A6	43566623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.133000	0.10451	-1.173000	0.02758	-0.932000	0.02703	CGG	-	NULL		0.512	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	protein_coding	OTTHUMT00000036987.1	C	NM_001145196	-		43626627	-1	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43626627	C	T	43626627	3	4	205	1	0	0	0	0	1	0	0	0	5624	652	23	1	1975	1	FAM75A6	9	43626627	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	9074446	43626627	97586804	225	16746											
ABCA1	19	genome.wustl.edu	37	chr9	107555470	107555470	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctgggcctgatgaagaatCtgtactggatcagaacagta	11	8	2	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:107555470C>T	ENST00000374736.3	-	41	6012	c.5618G>A	c.(5617-5619)aGa>aAa	p.R1873K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1873					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GATGAAGAATCTGTACTGGAT	0.527																																																	0								ENSG00000165029						137	126	130					9																	107555470		2203	4300	6503	ABCA1	SO:0001583	missense	0			-	HGNC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5618G>A	9.37:g.107555470C>T	ENSP00000363868:p.Arg1873Lys	Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	40	38.46	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1873K	ENST00000374736.3	37	c.5618	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011113	0.54361	.	.	ENSG00000165029	ENST00000374736	T	0.74002	-0.8	5.97	5.07	0.68467	.	0.203550	0.47093	D	0.000260	T	0.63331	0.2502	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58194	-0.7679	10	0.37606	T	0.19	.	14.8147	0.70024	0.0:0.9304:0.0:0.0696	.	1873	O95477	ABCA1_HUMAN	K	1873	ENSP00000363868:R1873K	ENSP00000363868:R1873K	R	-	2	0	ABCA1	106595291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.673000	0.54591	1.539000	0.49286	0.655000	0.94253	AGA	-	NULL		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	protein_coding	OTTHUMT00000053491.1	C	NM_005502	-		107555470	-1	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107555470	C	T	107555470	3	4	205	1	0	0	0	0	1	0	0	0	28	913	32	2	1207	2	ABCA1	9	107555470	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	63928843	107555470	33657961	226	16747											
ROD1	9991	genome.wustl.edu	37	chr9	115038213	115038213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcggtgacatcacatgGaatttttcgaagatggagaa	11	6	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:115038213G>A	ENST00000374255.2	-	4	346	c.199C>T	c.(199-201)Cca>Tca	p.P67S	PTBP3_ENST00000374257.1_Missense_Mutation_p.P39S|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000334318.6_Missense_Mutation_p.P70S|PTBP3_ENST00000458258.1_Missense_Mutation_p.P73S|PTBP3_ENST00000343327.2_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	67	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ACATCACATGGAATTTTTCGA	0.373																																																	0								ENSG00000119314						122	115	117					9																	115038213		2203	4300	6503	PTBP3	SO:0001583	missense	0			-	HGNC	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.199C>T	9.37:g.115038213G>A	ENSP00000363373:p.Pro67Ser	Somatic	0	64	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	69	30.30	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P73S	ENST00000374255.2	37	c.217	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.353051	0.95830	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000210227;ENST00000450374	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.91952	0.7451	M	0.90759	3.145	0.80722	D	1	P;D;D;D;D	0.89917	0.947;0.997;1.0;0.999;0.999	P;D;D;D;D	0.87578	0.656;0.985;0.998;0.993;0.977	D	0.92882	0.6324	10	0.62326	D	0.03	-4.0889	19.3944	0.94601	0.0:0.0:1.0:0.0	.	39;39;70;67;73	B1ALY5;O95758-2;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	S	39;70;73;67;73;70	ENSP00000363375:P39S;ENSP00000334499:P70S;ENSP00000414921:P73S;ENSP00000363373:P67S;ENSP00000210227:P73S	ENSP00000210227:P73S	P	-	1	0	ROD1	114078034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.574000	0.86865	0.591000	0.81541	CCA	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	protein_coding	OTTHUMT00000053679.1	G		-		115038213	-1	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	SNP	1.000	A	A	115038213	G	A	115038213	3	1	205	1	0	0	0	0	1	0	0	0	13527	1174	41	2	1507	2	ROD1	9	115038213	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7482743	115038213	26175218	227	16748											
DBC1	1620	genome.wustl.edu	37	chr9	121929585	121929585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagcatcactgacgaagagGaatagaactggccgccctgt	13	10	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:121929585G>A	ENST00000265922.3	-	8	2524	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	688					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)											TGACGAAGAGGAATAGAACTG	0.582																																																	0								ENSG00000078725						138	133	135					9																	121929585		2203	4300	6503	BRINP1	SO:0001583	missense	0			-	HGNC	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.2063C>T	9.37:g.121929585G>A	ENSP00000265922:p.Ser688Phe	Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.S688F	ENST00000265922.3	37	c.2063	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948209	0.53186	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.16073	2.37	5.73	4.83	0.62350	.	0.119025	0.64402	D	0.000012	T	0.18923	0.0454	L	0.36672	1.1	0.80722	D	1	B	0.26258	0.145	B	0.31191	0.125	T	0.03641	-1.1017	10	0.87932	D	0	-20.1001	17.0691	0.86568	0.0:0.1271:0.8729:0.0	.	688	O60477	DBC1_HUMAN	F	688	ENSP00000265922:S688F	ENSP00000265922:S688F	S	-	2	0	DBC1	120969406	1.000000	0.71417	0.619000	0.29118	0.500000	0.33767	9.734000	0.98822	1.550000	0.49438	0.650000	0.86243	TCC	-	NULL		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	protein_coding	OTTHUMT00000055440.2	G	NM_014618	-		121929585	-1	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121929585	G	A	121929585	3	1	205	1	0	0	0	0	1	0	0	0	4249	1174	41	2	226	2	DBC1	9	121929585	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	6891372	121929585	19283846	228	16749											
DBC1	1620	genome.wustl.edu	37	chr9	122075558	122075558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggtctgtcccagctggttCctggtgggagggctgcactg	16	10	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:122075558C>T	ENST00000265922.3	-	2	537	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	BRINP1_ENST00000373964.2_Missense_Mutation_p.E26K	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	26					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)		p.E26K(1)									CCAGCTGGTTCCTGGTGGGAG	0.517																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000078725						115	110	111					9																	122075558		2203	4300	6503	BRINP1	SO:0001583	missense	0			-	HGNC	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.76G>A	9.37:g.122075558C>T	ENSP00000265922:p.Glu26Lys	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	54	30.38	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.E26K	ENST00000265922.3	37	c.76	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935373	0.73442	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.44881	2.5;0.91	5.39	5.39	0.77823	.	0.096535	0.64402	D	0.000001	T	0.27205	0.0667	N	0.14661	0.345	0.58432	D	0.999995	B;B	0.31318	0.241;0.319	B;B	0.24155	0.051;0.037	T	0.06716	-1.0811	10	0.18710	T	0.47	-11.9944	19.1592	0.93524	0.0:1.0:0.0:0.0	.	26;26	O60477-2;O60477	.;DBC1_HUMAN	K	26	ENSP00000265922:E26K;ENSP00000363075:E26K	ENSP00000265922:E26K	E	-	1	0	DBC1	121115379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.741000	0.68638	2.543000	0.85770	0.655000	0.94253	GAA	-	NULL		0.517	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	protein_coding	OTTHUMT00000055440.2	C	NM_014618	-		122075558	-1	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122075558	C	T	122075558	3	4	205	1	0	0	0	0	1	0	0	0	4249	864	30	2	2237	2	DBC1	9	122075558	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	145973	122075558	19137873	229	16750											
ZER1	10444	genome.wustl.edu	37	chr9	131516096	131516096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtctcacctgcttgcGgatggcctccaggtcctggt	14	13	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:131516096G>A	ENST00000291900.2	-	3	707	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	101					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ACCTGCTTGCGGATGGCCTCC	0.697																																																	0								ENSG00000160445						26	21	23					9																	131516096		2200	4297	6497	ZER1	SO:0001583	missense	0			-	HGNC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.301C>T	9.37:g.131516096G>A	ENSP00000291900:p.Arg101Cys	Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	33	42.11	O00156|Q5T272|Q5T273	Missense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo	p.R101C	ENST00000291900.2	37	c.301	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228173	0.79576	.	.	ENSG00000160445	ENST00000291900;ENST00000414921;ENST00000427848	T;T	0.16457	2.34;2.34	5.25	5.25	0.73442	.	0.099309	0.64402	D	0.000005	T	0.16642	0.0400	L	0.29908	0.895	0.58432	D	0.999998	D	0.69078	0.997	P	0.47470	0.548	T	0.00759	-1.1578	10	0.39692	T	0.17	-34.67	11.9776	0.53100	0.0:0.0:0.7272:0.2728	.	101	Q7Z7L7	ZER1_HUMAN	C	101	ENSP00000291900:R101C;ENSP00000393051:R101C	ENSP00000291900:R101C	R	-	1	0	ZER1	130555917	0.996000	0.38824	0.999000	0.59377	0.958000	0.62258	3.470000	0.53100	2.617000	0.88574	0.555000	0.69702	CGC	-	NULL		0.697	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	protein_coding	OTTHUMT00000054491.1	G	NM_006336	-		131516096	-1	no_errors	ENST00000291900	ensembl	human	known	74_37	missense	SNP	0.991	A	A	131516096	G	A	131516096	3	1	205	1	0	0	0	0	1	0	0	0	17632	1116	39	1	2055	1	ZER1	9	131516096	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	9440538	131516096	9697335	230	16751											
ASS1	445	genome.wustl.edu	37	chr9	133370324	133370324	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaggagcgagtggaaggGaaagtgcaggtgtccgtcct	16	9	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:133370324G>A	ENST00000372394.1	+	14	1522	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	ASS1_ENST00000372393.3_Silent_p.G347G|ASS1_ENST00000352480.5_Silent_p.G347G			P00966	ASSY_HUMAN	argininosuccinate synthase 1	347			G -> R (in CTLN1; severe clinical course).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GAGTGGAAGGGAAAGTGCAGG	0.582																																																	0								ENSG00000130707						131	120	124					9																	133370324		2203	4300	6503	ASS1	SO:0001819	synonymous_variant	0			-	HGNC	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.1041G>A	9.37:g.133370324G>A		Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP							pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.G347	ENST00000372394.1	37	c.1041	CCDS6933.1	9																																																																																			-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.582	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	protein_coding	OTTHUMT00000054652.1	G	NM_000050	-		133370324	1	no_errors	ENST00000352480	ensembl	human	known	74_37	silent	SNP	0.998	A	A	133370324	G	A	133370324	2	1	205	1	0	0	0	0	0	0	0	1	1061	1161	41	2		2	ASS1	9	133370324	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1854228	133370324	7843107	231	16752											
TTF1	7270	genome.wustl.edu	37	chr9	135277166	135277166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgaggctctcaggcatgGccactgcctcaaattcctgg	10	14	3	0	rs151288177	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr9:135277166G>A	ENST00000334270.2	-	2	1082	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	348					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCAGGCATGGCCACTGCCTC	0.483																																																	0								ENSG00000125482						124	120	121					9																	135277166		2203	4300	6503	TTF1	SO:0001583	missense	0			-	HGNC	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1043C>T	9.37:g.135277166G>A	ENSP00000333920:p.Ala348Val	Somatic	0	52	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	45	31.34	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP							superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A348V	ENST00000334270.2	37	c.1043	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442189	0.43326	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10960	2.82	4.14	0.825	0.18824	.	1.025780	0.07779	N	0.953118	T	0.07188	0.0182	L	0.43152	1.355	0.09310	N	1	P	0.39480	0.675	B	0.26202	0.067	T	0.34601	-0.9822	10	0.46703	T	0.11	.	3.8561	0.08976	0.1219:0.0:0.4467:0.4314	.	348	Q15361	TTF1_HUMAN	V	348	ENSP00000333920:A348V	ENSP00000245588:A348V	A	-	2	0	TTF1	134266987	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.254000	0.18314	0.769000	0.33313	0.655000	0.94253	GCC	-	NULL		0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	protein_coding	OTTHUMT00000054784.2	G	NM_007344	-		135277166	-1	no_errors	ENST00000334270	ensembl	human	known	74_37	missense	SNP	0.000	A	A	135277166	G	A	135277166	3	1	205	1	0	0	0	0	1	0	0	0	16725	1203	42	2	1714	2	TTF1	9	135277166	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1906842	135277166	5936265	232	16753											
PRKCQ	5588	genome.wustl.edu	37	chr10	6540470	6540470	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgatggcaccccggcgctGatgcaaagcaaagaagcctt	11	12	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:6540470G>A	ENST00000263125.5	-	5	529	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	PRKCQ_ENST00000539722.1_Nonsense_Mutation_p.Q19*|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.Q144*	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	144					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CCCCGGCGCTGATGCAAAGCA	0.517																																					Ovarian(50;572 1126 10530 25349 30594)												0								ENSG00000065675						208	170	183					10																	6540470		2203	4300	6503	PRKCQ	SO:0001587	stop_gained	0			-	HGNC	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.430C>T	10.37:g.6540470G>A	ENSP00000263125:p.Gln144*	Somatic	0	52	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	61	19.74	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q144*	ENST00000263125.5	37	c.430	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426689	0.83667	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	.	.	.	5.62	5.62	0.85841	.	0.356526	0.33180	N	0.005188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;19	.	ENSP00000263125:Q144X	Q	-	1	0	PRKCQ	6580476	1.000000	0.71417	0.972000	0.41901	0.170000	0.22686	7.731000	0.84895	2.634000	0.89283	0.655000	0.94253	CAG	-	pirsf_Prot_kin_PKC_delta		0.517	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	protein_coding	OTTHUMT00000046665.1	G	NM_006257	-		6540470	-1	no_errors	ENST00000263125	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	6540470	G	A	6540470	4	1	205	1	0	0	0	0	0	1	0	0	12520	1299	45	2	1746	2	PRKCQ	10	6540470	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		6540470	128994277	233	16754											
ITIH5	80760	genome.wustl.edu	37	chr10	7679438	7679438	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaatatttcagtccccttCtctctgtcaggaaaaaggaa	7	10	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:7679438C>T	ENST00000256861.6	-	5	483	c.405G>A	c.(403-405)gaG>gaA	p.E135E	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.E135E|ITIH5_ENST00000397145.2_Silent_p.E135E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	135	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTCCCCTTCTCTCTGTCAG	0.547																																																	0								ENSG00000123243						55	61	59					10																	7679438		2203	4300	6503	ITIH5	SO:0001819	synonymous_variant	0			-	HGNC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.405G>A	10.37:g.7679438C>T		Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	20.51	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP							pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.E135	ENST00000256861.6	37	c.405		10																																																																																			-	pfam_VIT,smart_VIT		0.547	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	C	NM_030569	-		7679438	-1	no_errors	ENST00000256861	ensembl	human	known	74_37	silent	SNP	0.980	T	T	7679438	C	T	7679438	2	4	205	1	0	0	0	0	0	0	0	1	7909	912	32	2		2	ITIH5	10	7679438	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1138968	7679438	127855309	234	16755											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37430649	37430649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattgtgtgtttggcagaagGaacatctgcaggaacacctg	13	7	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:37430649G>A	ENST00000602533.1	+	7	755	c.656G>A	c.(655-657)gGa>gAa	p.G219E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G219E|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.G219E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	275					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						TTGGCAGAAGGAACATCTGCA	0.463																																																	0								ENSG00000148513						24	25	25					10																	37430649		1867	4096	5963	ANKRD30A	SO:0001583	missense	0			-	HGNC	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	ENST00000602533.1:c.656G>A	10.37:g.37430649G>A	ENSP00000473551:p.Gly219Glu	Somatic	0	72	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	84	18.45	Q5W025	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G219E	ENST00000602533.1	37	c.656		10	.	.	.	.	.	.	.	.	.	.	.	2.913	-0.224929	0.06022	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.30981	1.56;1.51	0.128	-0.256	0.12984	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.29620	0.0739	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.16719	-1.0393	8	0.34782	T	0.22	.	.	.	.	.	275	Q9BXX3	AN30A_HUMAN	E	219	ENSP00000354432:G219E;ENSP00000363792:G219E	ENSP00000354432:G219E	G	+	2	0	ANKRD30A	37470655	0.773000	0.28580	0.129000	0.21949	0.208000	0.24298	-0.037000	0.12164	-0.779000	0.04560	-0.763000	0.03452	GGA	-	NULL		0.463	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	protein_coding	OTTHUMT00000047588.2	G	NM_052997	-		37430649	1	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	SNP	0.177	A	A	37430649	G	A	37430649	3	1	205	1	0	0	0	0	1	0	0	0	658	1174	41	2	682	2	ANKRD30A	10	37430649	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	29751211	37430649	98104098	235	16756											
CHAT	1103	genome.wustl.edu	37	chr10	50857626	50857626	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccccggaggctgcggtgGaaatgctccccggaaattca	13	14	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:50857626G>A	ENST00000337653.2	+	10	1608	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	CHAT_ENST00000351556.3_Nonsense_Mutation_p.W367*|CHAT_ENST00000455728.2_Nonsense_Mutation_p.W367*|CHAT_ENST00000395559.2_Nonsense_Mutation_p.W367*|CHAT_ENST00000339797.1_Nonsense_Mutation_p.W367*|CHAT_ENST00000395562.2_Nonsense_Mutation_p.W403*	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	485					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGCTGCGGTGGAAATGCTCCC	0.612																																																	0								ENSG00000070748						40	47	44					10																	50857626		2202	4300	6502	CHAT	SO:0001587	stop_gained	0			-	HGNC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1455G>A	10.37:g.50857626G>A	ENSP00000337103:p.Trp485*	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Nonsense_Mutation	SNP							pfam_Carn_acyl_trans	p.W485*	ENST00000337653.2	37	c.1455	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.814878	0.98964	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0619	18.3655	0.90389	0.0:0.0:1.0:0.0	.	.	.	.	X	367;367;367;485;403;367	.	ENSP00000337103:W485X	W	+	3	0	CHAT	50527632	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.476000	0.97823	2.322000	0.78497	0.462000	0.41574	TGG	-	pfam_Carn_acyl_trans		0.612	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	protein_coding	OTTHUMT00000047997.1	G	NM_020549	-		50857626	1	no_errors	ENST00000337653	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	50857626	G	A	50857626	4	1	205	1	0	0	0	0	0	1	0	0	3315	1183	41	2	1537	2	CHAT	10	50857626	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	13426977	50857626	84677121	236	16757											
OGDHL	55753	genome.wustl.edu	37	chr10	50952755	50952755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttatccttggacctgCcataagcctcctcacagatc	5	14	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:50952755C>T	ENST00000374103.4	-	13	1758	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	OGDHL_ENST00000432695.1_Missense_Mutation_p.G349D|OGDHL_ENST00000419399.1_Missense_Mutation_p.G501D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	558					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						CTTGGACCTGCCATAAGCCTC	0.557																																																	0								ENSG00000197444						132	126	128					10																	50952755		2203	4300	6503	OGDHL	SO:0001583	missense	0			-	HGNC	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.1673G>A	10.37:g.50952755C>T	ENSP00000363216:p.Gly558Asp	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	55	9.84	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP							pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.G558D	ENST00000374103.4	37	c.1673	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366494	0.41902	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95412	-3.7;-3.7;-3.7	5.45	4.48	0.54585	Dehydrogenase, E1 component (1);	0.308709	0.35349	N	0.003263	D	0.83862	0.5346	N	0.00890	-1.11	0.35925	D	0.832071	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.81682	-0.0822	10	0.16896	T	0.51	.	14.939	0.70978	0.0:0.7381:0.2619:0.0	.	501;349;558	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	D	558;501;349	ENSP00000363216:G558D;ENSP00000401356:G501D;ENSP00000390240:G349D	ENSP00000363216:G558D	G	-	2	0	OGDHL	50622761	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.996000	0.57009	2.732000	0.93576	0.650000	0.86243	GGC	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.557	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	C	NM_018245	-		50952755	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50952755	C	T	50952755	3	4	205	1	0	0	0	0	1	0	0	0	10842	739	26	2	1403	2	OGDHL	10	50952755	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	95129	50952755	84581992	237	16758											
AGAP8	119016	genome.wustl.edu	37	chr10	51246208	51246208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggcatctcccggtcacGaacgtggtgcatgtggaggt	14	10	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:51246208G>A	ENST00000425119.2	-	1	327	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	AGAP8_ENST00000484805.1_5'UTR|AGAP8_ENST00000602930.1_Missense_Mutation_p.R29C	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		68					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCCCGGTCACGAACGTGGTGC	0.597																																																	0								ENSG00000174194						1	1	1					10																	51246208		282	464	746	AGAP8	SO:0001583	missense	0			-	HGNC																												ENST00000425119.2:c.202C>T	10.37:g.51246208G>A	ENSP00000415452:p.Arg68Cys	Somatic	0	22	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45		Missense_Mutation	SNP							pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.R68C	ENST00000425119.2	37	c.202	CCDS41522.1	10	.	.	.	.	.	.	.	.	.	.	G	3.256	-0.152133	0.06585	.	.	ENSG00000174194	ENST00000425119	D	0.90133	-2.62	1.38	0.0976	0.14494	.	0.187111	0.47093	D	0.000253	T	0.76513	0.3998	N	0.11427	0.14	0.21064	N	0.999797	P;P;P	0.47106	0.614;0.89;0.614	B;B;B	0.40636	0.18;0.335;0.041	T	0.71991	-0.4425	10	0.72032	D	0.01	.	4.1621	0.10289	0.0:0.0:0.3852:0.6148	.	68;68;68	C9JET2;Q5VW22-2;Q5SRD3	.;.;AGAP8_HUMAN	C	68	ENSP00000415452:R68C	ENSP00000415452:R68C	R	-	1	0	AGAP8	50916214	0.148000	0.22702	0.936000	0.37596	0.012000	0.07955	-0.413000	0.07123	0.024000	0.15214	0.175000	0.17021	CGT	-	NULL		0.597	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP8	protein_coding	OTTHUMT00000048022.2	G		-		51246208	-1	no_errors	ENST00000425119	ensembl	human	known	74_37	missense	SNP	0.945	A	A	51246208	G	A	51246208	3	1	205	1	0	0	0	0	1	0	0	0	374	1058	37	1	1817	1	AGAP8	10	51246208	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	293453	51246208	84288539	238	16759											
SH2D4B	387694	genome.wustl.edu	37	chr10	82298269	82298269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcctccaaagaccaagcGaggtacgtggctgggagtca	14	11	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:82298269G>A	ENST00000470604.2	+	1	182	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	SH2D4B_ENST00000313455.4_5'Flank|RP11-137H2.4_ENST00000417559.1_RNA|SH2D4B_ENST00000339284.2_Missense_Mutation_p.R61Q			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	61										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGACCAAGCGAGGTACGTGG	0.607																																																	0								ENSG00000178217						21	24	23					10																	82298269		2147	4232	6379	SH2D4B	SO:0001583	missense	0			-	HGNC		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.182G>A	10.37:g.82298269G>A	ENSP00000417953:p.Arg61Gln	Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R61Q	ENST00000470604.2	37	c.182		10	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967001	0.34754	.	.	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604	T;T	0.12672	2.66;2.75	5.19	3.31	0.37934	.	0.502662	0.18827	N	0.130089	T	0.09069	0.0224	L	0.27053	0.805	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.14392	-1.0474	10	0.35671	T	0.21	-3.4473	7.5946	0.28041	0.1921:0.0:0.8079:0.0	.	61	Q5SQS7-2	.	Q	61	ENSP00000345295:R61Q;ENSP00000417953:R61Q	ENSP00000345295:R61Q	R	+	2	0	SH2D4B	82288249	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	0.734000	0.26101	1.311000	0.45024	0.557000	0.71058	CGA	-	NULL		0.607	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	protein_coding		G	XM_351984	-		82298269	1	no_errors	ENST00000470604	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82298269	G	A	82298269	3	1	205	1	0	0	0	0	1	0	0	0	14244	1058	37	1	184	1	SH2D4B	10	82298269	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	31052061	82298269	53236478	239	16760											
PDE6C	5146	genome.wustl.edu	37	chr10	95422806	95422806	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agttctcacggtttcacaaaGaaatcacacctatgctgagt	7	10	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:95422806G>A	ENST00000371447.3	+	21	2527	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	797					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GTTTCACAAAGAAATCACACC	0.383																																																	0								ENSG00000095464						67	70	69					10																	95422806		2203	4300	6503	PDE6C	SO:0001583	missense	0			-	HGNC	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2389G>A	10.37:g.95422806G>A	ENSP00000360502:p.Glu797Lys	Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	49	19.67	A6NCR6|Q5VY29	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E797K	ENST00000371447.3	37	c.2389	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656961	0.88154	.	.	ENSG00000095464	ENST00000371447	T	0.80909	-1.43	5.02	5.02	0.67125	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044828	0.85682	N	0.000000	D	0.84951	0.5586	L	0.37750	1.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82331	-0.0510	10	0.27785	T	0.31	.	18.126	0.89586	0.0:0.0:1.0:0.0	.	797	P51160	PDE6C_HUMAN	K	797	ENSP00000360502:E797K	ENSP00000360502:E797K	E	+	1	0	PDE6C	95412796	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.365000	0.79537	2.607000	0.88179	0.655000	0.94253	GAA	-	pfam_PDEase_catalytic_dom		0.383	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	protein_coding	OTTHUMT00000049437.1	G	NM_006204	-		95422806	1	no_errors	ENST00000371447	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95422806	G	A	95422806	3	1	205	1	0	0	0	0	1	0	0	0	11649	943	33	2	2471	2	PDE6C	10	95422806	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	13124537	95422806	40111941	240	16761											
CYP2C18	1562	genome.wustl.edu	37	chr10	96495020	96495020	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctatgtctcttattttcagGaaaacggatgtgtatgggag	11	6	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:96495020G>A	ENST00000285979.6	+	9	1491	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Splice_Site_p.G372E	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	431					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTATTTTCAGGAAAACGGATG	0.408																																																	0								ENSG00000108242						84	80	81					10																	96495020		2203	4300	6503	CYP2C18	SO:0001630	splice_region_variant	0			-	HGNC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1292-1G>A	10.37:g.96495020G>A		Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	80	13.04	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G431E	ENST00000285979.6	37	c.1292	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	15.61	2.884892	0.51908	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	D;D	0.98849	-5.18;-5.18	4.09	4.09	0.47781	Cytochrome P450, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99447	0.9804	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.83275	0.92;0.996	D	0.98052	1.0388	9	.	.	.	.	13.8369	0.63415	0.0:0.0:1.0:0.0	.	372;431	Q4VAT5;P33260	.;CP2CI_HUMAN	E	372;431	ENSP00000341293:G372E;ENSP00000285979:G431E	.	G	+	2	0	CYP2C18	96485010	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	7.930000	0.87610	2.079000	0.62486	0.455000	0.32223	GGA	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.408	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	protein_coding	OTTHUMT00000049486.1	G	NM_000772	-	Missense_Mutation	96495020	1	no_errors	ENST00000285979	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96495020	G	A	96495020	5	1	205	1	0	0	0	0	0	0	1	0	4167	1188	41	2	1326	2	CYP2C18	10	96495020	Splice_Site	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1072214	96495020	39039727	241	16762											
CYP2C19	1557	genome.wustl.edu	37	chr10	96609693	96609693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcacaaccatattaacttCcctcacttctgtgctacatg	6	13	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:96609693C>T	ENST00000371321.3	+	8	1251	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	390					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATATTAACTTCCCTCACTTCT	0.393																																																	0								ENSG00000165841						172	158	163					10																	96609693		2203	4300	6503	CYP2C19	SO:0001583	missense	0			-	HGNC	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1169C>T	10.37:g.96609693C>T	ENSP00000360372:p.Ser390Phe	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	89	14.42	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S390F	ENST00000371321.3	37	c.1169	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	C	2.687	-0.274058	0.05679	.	.	ENSG00000165841	ENST00000371321	T	0.13657	2.57	3.5	1.02	0.19986	.	0.431057	0.18979	U	0.125924	T	0.09598	0.0236	L	0.39397	1.21	0.09310	N	1	P	0.44877	0.845	B	0.40101	0.319	T	0.17930	-1.0353	10	0.48119	T	0.1	.	4.5192	0.11950	0.0:0.5021:0.0:0.4979	.	390	P33261	CP2CJ_HUMAN	F	390	ENSP00000360372:S390F	ENSP00000360372:S390F	S	+	2	0	CYP2C19	96599683	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.123000	0.15708	0.576000	0.29452	0.603000	0.83216	TCC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.393	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	protein_coding	OTTHUMT00000049490.1	C	NM_000769	-		96609693	1	no_errors	ENST00000371321	ensembl	human	known	74_37	missense	SNP	0.000	T	T	96609693	C	T	96609693	3	4	205	1	0	0	0	0	1	0	0	0	4168	855	30	2	1199	2	CYP2C19	10	96609693	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	114673	96609693	38925054	242	16763											
OPALIN	93377	genome.wustl.edu	37	chr10	98105735	98105735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggcacaagccaccacaatCccctccttctttccatttct	4	17	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:98105735C>T	ENST00000371172.3	-	6	794	c.389G>A	c.(388-390)gGa>gAa	p.G130E	OPALIN_ENST00000419479.1_Missense_Mutation_p.G120E|OPALIN_ENST00000393871.1_Missense_Mutation_p.G107E|OPALIN_ENST00000393870.2_Missense_Mutation_p.G119E|OPALIN_ENST00000536387.1_Missense_Mutation_p.G120E	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	130						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCACCACAATCCCCTCCTTCT	0.522																																																	0								ENSG00000197430						156	135	142					10																	98105735		2203	4300	6503	OPALIN	SO:0001583	missense	0			-	HGNC	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"transmembrane protein 10"	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.389G>A	10.37:g.98105735C>T	ENSP00000360214:p.Gly130Glu	Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	74	20.43	A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP							NULL	p.G130E	ENST00000371172.3	37	c.389	CCDS7448.1	10	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793423	0.50102	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	2.17	0.27698	.	0.474665	0.18221	N	0.147886	T	0.50017	0.1591	L	0.34521	1.04	0.09310	N	1	D;D;P	0.89917	1.0;1.0;0.944	D;D;P	0.97110	1.0;1.0;0.624	T	0.37549	-0.9701	9	0.87932	D	0	-12.9564	10.3513	0.43937	0.0:0.611:0.389:0.0	.	107;130;120	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	E	130;107;120;119;120	.	ENSP00000360214:G130E	G	-	2	0	OPALIN	98095725	0.002000	0.14202	0.055000	0.19348	0.836000	0.47400	0.621000	0.24418	0.459000	0.27016	0.650000	0.86243	GGA	-	NULL		0.522	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPALIN	protein_coding	OTTHUMT00000049606.1	C	NM_033207	-		98105735	-1	no_errors	ENST00000371172	ensembl	human	known	74_37	missense	SNP	0.016	T	T	98105735	C	T	98105735	3	4	205	1	0	0	0	0	1	0	0	0	10875	855	30	2	40	2	OPALIN	10	98105735	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1496042	98105735	37429012	243	16764											
LOXL4	84171	genome.wustl.edu	37	chr10	100022501	100022501	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcaccagtcactcaccCtccccttggccgtacttggc	10	17	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:100022501C>T	ENST00000260702.3	-	2	426	c.276G>A	c.(274-276)gaG>gaA	p.E92E		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	92	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTCACTCACCCTCCCCTTGGC	0.582											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000138131						78	77	77					10																	100022501		2202	4296	6498	LOXL4	SO:0001630	splice_region_variant	0			-	HGNC	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.277+1G>A	10.37:g.100022501C>T		Somatic	0	89	0	1348	0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	105	16.00	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP							pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.E92	ENST00000260702.3	37	c.276	CCDS7473.1	10																																																																																			-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.582	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	protein_coding	OTTHUMT00000049766.1	C	NM_032211	-	Silent	100022501	-1	no_errors	ENST00000260702	ensembl	human	known	74_37	silent	SNP	0.997	T	T	100022501	C	T	100022501	5	4	205	1	0	0	0	0	0	0	1	0	8904	695	24	2	2050	2	LOXL4	10	100022501	Splice_Site	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1916766	100022501	35512246	244	16765											
SEC31B	25956	genome.wustl.edu	37	chr10	102275970	102275970	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaatctagctgttgggcaGatgttcctaggcacaagaaa	12	7	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:102275970G>A	ENST00000370345.3	-	3	183	c.86C>T	c.(85-87)tCt>tTt	p.S29F	SEC31B_ENST00000451524.1_Missense_Mutation_p.S29F|SEC31B_ENST00000535773.1_5'UTR|SEC31B_ENST00000370329.5_Missense_Mutation_p.S29F|NDUFB8_ENST00000531258.1_3'UTR|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	29					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTGTTGGGCAGATGTTCCTAG	0.428																																																	0								ENSG00000075826						88	81	84					10																	102275970		2203	4300	6503	SEC31B	SO:0001583	missense	0			-	HGNC	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.86C>T	10.37:g.102275970G>A	ENSP00000359370:p.Ser29Phe	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S29F	ENST00000370345.3	37	c.86	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724102	0.68959	.	.	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000370329	T;T;T	0.58358	0.65;0.34;0.45	5.89	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.278705	0.41938	D	0.000794	T	0.71871	0.3391	M	0.75264	2.295	0.80722	D	1	B;P;B;B	0.35774	0.017;0.519;0.007;0.384	B;P;B;P	0.56127	0.017;0.792;0.007;0.625	T	0.74737	-0.3564	10	0.87932	D	0	-9.5841	15.571	0.76337	0.0:0.0:0.8612:0.1388	.	29;29;29;29	B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;SC31B_HUMAN	F	29	ENSP00000359370:S29F;ENSP00000391178:S29F;ENSP00000359354:S29F	ENSP00000359354:S29F	S	-	2	0	SEC31B	102265960	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.790000	0.99075	1.492000	0.48499	-0.324000	0.08512	TCT	-	superfamily_WD40_repeat_dom		0.428	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	protein_coding	OTTHUMT00000051198.1	G	NM_015490	-		102275970	-1	no_errors	ENST00000370345	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102275970	G	A	102275970	3	1	205	1	0	0	0	0	1	0	0	0	14007	942	33	2	3549	2	SEC31B	10	102275970	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2253469	102275970	33258777	245	16766											
GPAM	57678	genome.wustl.edu	37	chr10	113915640	113915640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatatactgcaacatttcTttctgttctggttattaggt	6	8	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:113915640T>C	ENST00000348367.4	-	20	2490	c.2293A>G	c.(2293-2295)Aga>Gga	p.R765G	GPAM_ENST00000369425.1_3'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.R765G			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	765					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GCAACATTTCTTTCTGTTCTG	0.328																																					Ovarian(161;1017 2606 18293 52943)												0								ENSG00000119927						110	103	106					10																	113915640		2203	4300	6503	GPAM	SO:0001583	missense	0			-	HGNC	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2293A>G	10.37:g.113915640T>C	ENSP00000265276:p.Arg765Gly	Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	19.77	Q5VW51|Q86TA3	Missense_Mutation	SNP							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R765G	ENST00000348367.4	37	c.2293	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688804	0.29962	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	T;T	0.68765	-0.35;-0.35	5.08	3.91	0.45181	.	0.109566	0.64402	D	0.000010	T	0.50650	0.1628	L	0.27053	0.805	0.42793	D	0.993902	P	0.34522	0.455	B	0.34346	0.18	T	0.41980	-0.9478	10	0.25106	T	0.35	-18.9467	10.895	0.47017	0.0:0.0:0.1575:0.8425	.	765	Q9HCL2	GPAT1_HUMAN	G	765	ENSP00000265276:R765G;ENSP00000409242:R765G	ENSP00000265276:R765G	R	-	1	2	GPAM	113905630	0.965000	0.33210	0.669000	0.29828	0.967000	0.64934	3.547000	0.53663	0.838000	0.34948	0.533000	0.62120	AGA	-	NULL		0.328	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	protein_coding	OTTHUMT00000050377.1	T	NM_020918	-		113915640	-1	no_errors	ENST00000348367	ensembl	human	known	74_37	missense	SNP	1.000	C	C	113915640	T	C	113915640	3	2	205	1	0	0	0	0	1	0	0	0	6590	1617	56	5	205	5	GPAM	10	113915640	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	11639670	113915640	21619107	246	16767											
TACC2	10579	genome.wustl.edu	37	chr10	123845786	123845786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggagtgaaagctgtttcCtctgcagaccccagagctcc	11	12	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:123845786C>T	ENST00000369005.1	+	4	4111	c.3771C>T	c.(3769-3771)tcC>tcT	p.S1257S	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.S1257S|TACC2_ENST00000515273.1_Silent_p.S1257S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.S1257S|TACC2_ENST00000515603.1_Silent_p.S1257S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1257					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)				AAGCTGTTTCCTCTGCAGACC	0.592																																																	0								ENSG00000138162						74	82	79					10																	123845786		2203	4300	6503	TACC2	SO:0001819	synonymous_variant	0			-	HGNC	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.3771C>T	10.37:g.123845786C>T		Somatic	0	29	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP							pfam_TACC	p.S1257	ENST00000369005.1	37	c.3771	CCDS7626.1	10																																																																																			-	NULL		0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	C		-		123845786	1	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	SNP	0.000	T	T	123845786	C	T	123845786	2	4	205	1	0	0	0	0	0	0	0	1	15509	668	24	2		2	TACC2	10	123845786	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	9930146	123845786	11688961	247	16768											
TACC2	10579	genome.wustl.edu	37	chr10	124008163	124008163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctctcctgccagaggacGaacagagagagaagtcagtc	13	10	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:124008163G>A	ENST00000369005.1	+	20	8738	c.8398G>A	c.(8398-8400)Gaa>Aaa	p.E2800K	TACC2_ENST00000368999.1_Missense_Mutation_p.E890K|TACC2_ENST00000513429.1_Missense_Mutation_p.E946K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2800K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2727K|TACC2_ENST00000369004.3_Missense_Mutation_p.E860K|TACC2_ENST00000358010.1_Missense_Mutation_p.E946K|TACC2_ENST00000360561.3_Missense_Mutation_p.E848K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2727K|TACC2_ENST00000369000.1_Missense_Mutation_p.E423K|TACC2_ENST00000369001.1_Missense_Mutation_p.E427K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2678K|TACC2_ENST00000260733.3_Missense_Mutation_p.E878K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2800					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)				GCCAGAGGACGAACAGAGAGA	0.597																																																	0								ENSG00000138162						92	100	97					10																	124008163		2203	4300	6503	TACC2	SO:0001583	missense	0			-	HGNC	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.8398G>A	10.37:g.124008163G>A	ENSP00000358001:p.Glu2800Lys	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	43	32.81	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP							pfam_TACC	p.E2800K	ENST00000369005.1	37	c.8398	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841609	0.51057	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	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	5.29	5.29	0.74685	.	0.000000	0.37669	N	0.001984	T	0.54967	0.1891	L	0.41632	1.29	0.30932	N	0.726771	D;D;D;D;P;B;B;B;D	0.76494	0.998;0.958;0.999;0.999;0.949;0.034;0.06;0.106;0.999	D;B;D;D;B;B;B;B;D	0.72625	0.97;0.419;0.978;0.978;0.355;0.008;0.04;0.017;0.978	T	0.50508	-0.8820	10	0.16896	T	0.51	-10.6815	19.2993	0.94136	0.0:0.0:1.0:0.0	.	2727;860;2678;2727;848;878;423;946;2800	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	K	2800;946;2727;2678;2800;946;2727;2713;427;423;848;890;860;878	ENSP00000358001:E2800K;ENSP00000425062:E946K;ENSP00000424467:E2727K;ENSP00000427618:E2678K;ENSP00000334280:E2800K;ENSP00000350701:E946K;ENSP00000395048:E2727K;ENSP00000357997:E427K;ENSP00000357996:E423K;ENSP00000353763:E848K;ENSP00000357995:E890K;ENSP00000422815:E860K;ENSP00000260733:E878K	ENSP00000260733:E878K	E	+	1	0	TACC2	123998153	1.000000	0.71417	0.730000	0.30809	0.096000	0.18686	9.662000	0.98603	2.617000	0.88574	0.655000	0.94253	GAA	-	pfam_TACC		0.597	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	G		-		124008163	1	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	SNP	0.997	A	A	124008163	G	A	124008163	3	1	205	1	0	0	0	0	1	0	0	0	15509	1059	37	1	8544	1	TACC2	10	124008163	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	162377	124008163	11526584	248	16769											
DMBT1	1755	genome.wustl.edu	37	chr10	124389895	124389895	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctggggaaaatctgtaatGataccaggcaaatatttaca	9	6	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:124389895G>A	ENST00000338354.3	+	45	5633	c.5527G>A	c.(5527-5529)Gat>Aat	p.D1843N	DMBT1_ENST00000330163.4_Missense_Mutation_p.D1215N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1833N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1215N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D563N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1833N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1843N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1843	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATCTGTAATGATACCAGGCA	0.388																																					Ovarian(182;93 2026 18125 22222 38972)												0								ENSG00000187908						135	126	129					10																	124389895		1860	4109	5969	DMBT1	SO:0001583	missense	0			-	HGNC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5527G>A	10.37:g.124389895G>A	ENSP00000342210:p.Asp1843Asn	Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP							pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.D1843N	ENST00000338354.3	37	c.5527		10	.	.	.	.	.	.	.	.	.	.	G	6.763	0.509681	0.12883	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	4.45	-4.9	0.03094	CUB (5);	.	.	.	.	T	0.20333	0.0489	N	0.17082	0.46	0.09310	N	1	B;D;B;D;B;D;B	0.60575	0.002;0.978;0.002;0.988;0.002;0.983;0.078	B;P;B;P;B;P;B	0.61070	0.001;0.832;0.001;0.883;0.002;0.79;0.246	T	0.08911	-1.0699	9	0.36615	T	0.2	.	1.7551	0.02980	0.4462:0.1029:0.2429:0.208	.	563;1823;1092;1972;1215;1833;1843	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	1843;1972;1843;1843;1843;1843;1215;1833;1215;1215;1843;1833;1215;563	ENSP00000342210:D1843N;ENSP00000343175:D1833N;ENSP00000327747:D1215N;ENSP00000357905:D1843N;ENSP00000357951:D1833N;ENSP00000357952:D1215N;ENSP00000352593:D563N	ENSP00000331522:D1215N	D	+	1	0	DMBT1	124379885	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.517000	0.00954	-0.848000	0.04163	-0.140000	0.14226	GAT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.388	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	G	NM_004406	-		124389895	1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	SNP	0.000	A	A	124389895	G	A	124389895	3	1	205	1	0	0	0	0	1	0	0	0	4579	1290	45	2	5705	2	DMBT1	10	124389895	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	381732	124389895	11144852	249	16770											
CUZD1	50624	genome.wustl.edu	37	chr10	124600736	124600736	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgcttttgttttctggtCtttctattgtccaggtgcag	10	7	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr10:124600736C>T	ENST00000368904.1	-	4	1140	c.191G>A	c.(190-192)aGa>aAa	p.R64K	CUZD1_ENST00000545804.1_Missense_Mutation_p.R64K|CUZD1_ENST00000392790.1_Missense_Mutation_p.R64K					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTTTTCTGGTCTTTCTATTGT	0.448																																																	0								ENSG00000138161						177	167	171					10																	124600736		2203	4300	6503	CUZD1	SO:0001583	missense	0			-	HGNC	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.191G>A	10.37:g.124600736C>T	ENSP00000357900:p.Arg64Lys	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92		Missense_Mutation	SNP							pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom	p.R64K	ENST00000368904.1	37	c.191	CCDS7631.1	10	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372850	0.24857	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.34275	1.37;1.37;1.37	5.42	1.38	0.22167	CUB (5);	0.409722	0.26058	N	0.026583	T	0.29749	0.0743	M	0.67953	2.075	0.32002	N	0.60326	B	0.12630	0.006	B	0.17098	0.017	T	0.42965	-0.9420	10	0.07030	T	0.85	-6.2359	9.3896	0.38365	0.0:0.6933:0.0:0.3067	.	64	Q86UP6	CUZD1_HUMAN	K	64	ENSP00000357900:R64K;ENSP00000441590:R64K;ENSP00000376540:R64K	ENSP00000357900:R64K	R	-	2	0	CUZD1	124590726	0.931000	0.31567	0.101000	0.21167	0.855000	0.48748	1.325000	0.33724	-0.016000	0.14127	-0.244000	0.11960	AGA	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.448	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	protein_coding	OTTHUMT00000050829.2	C	NM_022034	-		124600736	-1	no_errors	ENST00000368904	ensembl	human	known	74_37	missense	SNP	0.949	T	T	124600736	C	T	124600736	3	4	205	1	0	0	0	0	1	0	0	0	4068	913	32	2	1664	2	CUZD1	10	124600736	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	210841	124600736	10934011	250	16771											
NLRP6	171389	genome.wustl.edu	37	chr11	285284	285284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacccacaacctcccaagGaactcatctcgaccttctga	5	18	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:285284G>A	ENST00000312165.5	+	8	2659	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000525217.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.E886K	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	887					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACCTCCCAAGGAACTCATCTC	0.592																																																	0								ENSG00000174885						73	62	66					11																	285284		2203	4300	6503	NLRP6	SO:0001583	missense	0			-	HGNC	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2659G>A	11.37:g.285284G>A	ENSP00000309767:p.Glu887Lys	Somatic	0	66	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	87	11.22	A8K9F3|E9PJZ8	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E887K	ENST00000312165.5	37	c.2659	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	6.976	0.550032	0.13374	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74632	-0.86;-0.83	2.17	1.24	0.21308	.	.	.	.	.	T	0.47358	0.1441	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.26430	-1.0103	9	0.19147	T	0.46	.	3.3712	0.07222	0.1663:0.2762:0.5575:0.0	.	886;887	E9PJZ8;P59044	.;NALP6_HUMAN	K	886;887	ENSP00000433617:E886K;ENSP00000309767:E887K	ENSP00000309767:E887K	E	+	1	0	NLRP6	275284	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.489000	0.22387	0.479000	0.27511	0.557000	0.71058	GAA	-	NULL		0.592	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	protein_coding	OTTHUMT00000239283.1	G	NM_138329	-		285284	1	no_errors	ENST00000312165	ensembl	human	known	74_37	missense	SNP	0.001	A	A	285284	G	A	285284	3	1	205	1	0	0	0	0	1	0	0	0	10483	1175	41	2	2689	2	NLRP6	11	285284	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		285284	134721232	251	16772											
MUC2	4583	genome.wustl.edu	37	chr11	1084347	1084347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccttgcgtccataacaacGacctgtattcttccggcgcc	8	16	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:1084347G>A	ENST00000441003.2	+	19	2506	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	MUC2_ENST00000359061.5_Missense_Mutation_p.D827N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	827					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCATAACAACGACCTGTATTC	0.632																																																	0								ENSG00000198788						96	108	104					11																	1084347		2155	4260	6415	MUC2	SO:0001583	missense	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2479G>A	11.37:g.1084347G>A	ENSP00000415183:p.Asp827Asn	Somatic	0	91	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	87	13.86	Q14878	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.D827N	ENST00000441003.2	37	c.2479		11	.	.	.	.	.	.	.	.	.	.	G	3.159	-0.172553	0.06421	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.31510	1.49;1.49	4.22	2.19	0.27852	.	1.641150	0.03993	N	0.295255	T	0.21347	0.0514	N	0.25094	0.71	0.09310	N	1	B	0.31351	0.32	B	0.24848	0.056	T	0.22941	-1.0202	10	0.17832	T	0.49	.	10.0388	0.42144	0.0:0.1504:0.6935:0.1561	.	827	E7EUV1	.	N	827	ENSP00000415183:D827N;ENSP00000351956:D827N	ENSP00000351956:D827N	D	+	1	0	MUC2	1074347	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.910000	0.28571	0.349000	0.23975	0.555000	0.69702	GAC	-	smart_VWC_out,smart_VWF_C		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1084347	1	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	SNP	0.001	A	A	1084347	G	A	1084347	3	1	205	1	0	0	0	0	1	0	0	0	9977	1058	37	1	2553	1	MUC2	11	1084347	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	799063	1084347	133922169	252	16773											
TNNT3	7140	genome.wustl.edu	37	chr11	1955791	1955791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggctgaccagaagagaGgcaagaagcagacagcccgg	15	10	0	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:1955791G>A	ENST00000397301.1	+	14	537	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	TNNT3_ENST00000397304.2_Missense_Mutation_p.G147S|TNNT3_ENST00000278317.6_Missense_Mutation_p.G166S|TNNT3_ENST00000381561.4_Missense_Mutation_p.G169S|TNNT3_ENST00000381579.3_Missense_Mutation_p.G158S|TNNT3_ENST00000381549.3_Missense_Mutation_p.G158S|TNNT3_ENST00000381589.3_Missense_Mutation_p.G164S|TNNT3_ENST00000381548.3_Missense_Mutation_p.G168S|TNNT3_ENST00000360603.3_Missense_Mutation_p.G160S|TNNT3_ENST00000381558.1_Missense_Mutation_p.G158S|TNNT3_ENST00000446240.1_Missense_Mutation_p.G147S|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	177					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCAGAAGAGAGGCAAGAAGCA	0.587																																																	0								ENSG00000130595						28	29	28					11																	1955791		2197	4294	6491	TNNT3	SO:0001583	missense	0			-	HGNC	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.529G>A	11.37:g.1955791G>A	ENSP00000380468:p.Gly177Ser	Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	48	15.79	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP							pfam_Troponin	p.G177S	ENST00000397301.1	37	c.529		11	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757188	0.69648	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	L	0.56124	1.755	0.80722	D	1	D;D;D;P;D	0.56287	0.969;0.969;0.969;0.919;0.975	P;P;P;P;P	0.57620	0.73;0.73;0.73;0.73;0.824	D	0.94584	0.7782	10	0.87932	D	0	-17.3625	16.3717	0.83364	0.0:0.0:1.0:0.0	.	166;158;164;158;177	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	S	166;62;178;169;168;160;158;164;158;152;147;169;153;158;177;147;147	ENSP00000278317:G166S;ENSP00000370973:G169S;ENSP00000370960:G168S;ENSP00000353815:G160S;ENSP00000370961:G158S;ENSP00000371001:G164S;ENSP00000370991:G158S;ENSP00000370969:G152S;ENSP00000415614:G147S;ENSP00000370975:G169S;ENSP00000344870:G153S;ENSP00000370970:G158S;ENSP00000380468:G177S;ENSP00000380471:G147S;ENSP00000413203:G147S	ENSP00000278317:G166S	G	+	1	0	TNNT3	1912367	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	5.980000	0.70516	2.171000	0.68590	0.313000	0.20887	GGC	-	pfam_Troponin		0.587	TNNT3-010	KNOWN	basic	protein_coding	TNNT3	protein_coding	OTTHUMT00000142920.3	G	NM_006757	-		1955791	1	no_errors	ENST00000397301	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1955791	G	A	1955791	3	1	205	1	0	0	0	0	1	0	0	0	16339	1000	35	2	583	2	TNNT3	11	1955791	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	871444	1955791	133050725	253	16774											
OR51A2	401667	genome.wustl.edu	37	chr11	4976386	4976386	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagaacaggccaacttcatGacatcctggtggagacagta	10	10	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:4976386G>A	ENST00000380371.1	-	1	557	c.558C>T	c.(556-558)gtC>gtT	p.V186V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAACTTCATGACATCCTGGT	0.413																																																	0								ENSG00000205496						57	49	52					11																	4976386		2126	4006	6132	OR51A2	SO:0001819	synonymous_variant	0			-	HGNC	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.558C>T	11.37:g.4976386G>A		Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V186	ENST00000380371.1	37	c.558	CCDS31368.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.413	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A2	protein_coding	OTTHUMT00000142809.1	G	NM_001004748	-		4976386	-1	no_errors	ENST00000380371	ensembl	human	known	74_37	silent	SNP	0.750	A	A	4976386	G	A	4976386	2	1	205	1	0	0	0	0	0	0	0	1	11088	1277	45	2		2	OR51A2	11	4976386	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3020595	4976386	130030130	254	16775											
C11orf42	160298	genome.wustl.edu	37	chr11	6232180	6232180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcagccctccaccaggaGcccagggtgggggccccagg	15	18	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:6232180G>A	ENST00000316375.2	+	3	960	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	304	Pro-rich.									endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACCAGGAGCCCAGGGTGG	0.627																																																	0								ENSG00000180878						17	21	20					11																	6232180		2193	4292	6485	C11orf42	SO:0001583	missense	0			-	HGNC	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.910G>A	11.37:g.6232180G>A	ENSP00000321021:p.Ala304Thr	Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19		Missense_Mutation	SNP							NULL	p.A304T	ENST00000316375.2	37	c.910	CCDS7759.1	11	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050534	0.19827	.	.	ENSG00000180878	ENST00000316375	T	0.50001	0.76	4.84	3.84	0.44239	.	0.673420	0.13674	N	0.370674	T	0.26702	0.0653	N	0.12182	0.205	0.26858	N	0.968019	B	0.09022	0.002	B	0.06405	0.002	T	0.04991	-1.0913	10	0.29301	T	0.29	-1.0635	7.1991	0.25871	0.1229:0.0:0.8771:0.0	.	304	Q8N5U0	CK042_HUMAN	T	304	ENSP00000321021:A304T	ENSP00000321021:A304T	A	+	1	0	C11orf42	6188756	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.121000	0.41977	2.497000	0.84241	0.484000	0.47621	GCC	-	NULL		0.627	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf42	protein_coding	OTTHUMT00000257227.2	G	NM_173525	-		6232180	1	no_errors	ENST00000316375	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6232180	G	A	6232180	3	1	205	1	0	0	0	0	1	0	0	0	1643	971	34	2	920	2	C11orf42	11	6232180	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1255794	6232180	128774336	255	16776											
STK33	65975	genome.wustl.edu	37	chr11	8457588	8457588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttaccacagtcacttatgGaattccagactgcattttca	5	11	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:8457588G>A	ENST00000447869.1	-	9	1964	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	STK33_ENST00000315204.1_Missense_Mutation_p.S349F|STK33_ENST00000396672.1_Missense_Mutation_p.S349F|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.S308F|STK33_ENST00000358872.3_Missense_Mutation_p.S162F|STK33_ENST00000396673.1_Missense_Mutation_p.S349F			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	349	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)		GTCACTTATGGAATTCCAGAC	0.338																																																	0								ENSG00000130413						65	60	62					11																	8457588		2201	4296	6497	STK33	SO:0001583	missense	0			-	HGNC	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.1046C>T	11.37:g.8457588G>A	ENSP00000416750:p.Ser349Phe	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	86	21.10	Q658S6|Q8NEF5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S349F	ENST00000447869.1	37	c.1046	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	G	8.797	0.931907	0.18131	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.6	3.63	0.41609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178860	0.49916	D	0.000128	T	0.59404	0.2191	L	0.49571	1.57	0.19775	N	0.99995	B;B	0.14805	0.011;0.006	B;B	0.21151	0.025;0.033	T	0.56938	-0.7896	10	0.59425	D	0.04	.	10.4936	0.44764	0.0705:0.2337:0.6958:0.0	.	308;349	B4DDH2;Q9BYT3	.;STK33_HUMAN	F	349;349;349;162;349;104;308	ENSP00000416750:S349F;ENSP00000320754:S349F;ENSP00000379905:S349F;ENSP00000351743:S162F;ENSP00000379906:S349F;ENSP00000415688:S104F;ENSP00000436418:S308F	ENSP00000320754:S349F	S	-	2	0	STK33	8414164	0.060000	0.20803	0.885000	0.34714	0.375000	0.29983	1.310000	0.33551	1.502000	0.48669	-0.143000	0.13931	TCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.338	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	protein_coding	OTTHUMT00000276819.2	G	NM_030906	-		8457588	-1	no_errors	ENST00000315204	ensembl	human	known	74_37	missense	SNP	0.227	A	A	8457588	G	A	8457588	3	1	205	1	0	0	0	0	1	0	0	0	15307	1174	41	2	514	2	STK33	11	8457588	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2225408	8457588	126548928	256	16777											
IGSF22	283284	genome.wustl.edu	37	chr11	18731163	18731163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccctctgcaggctcccgCcaggccagggaaatgctgga	12	15	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:18731163C>T	ENST00000513874.1	-	18	2908	c.2769G>A	c.(2767-2769)tgG>tgA	p.W923*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	822										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAGGCTCCCGCCAGGCCAGGG	0.577																																																	0								ENSG00000179057						45	48	48					11																	18731163		1930	4131	6061	IGSF22	SO:0001587	stop_gained	0			-	HGNC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2769G>A	11.37:g.18731163C>T	ENSP00000421191:p.Trp923*	Somatic	0	25	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	A6NNA0|D6RGV7	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W923*	ENST00000513874.1	37	c.2769	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	41	8.580188	0.98872	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.58	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3447	0.21343	0.0:0.6807:0.1512:0.168	.	.	.	.	X	923	.	ENSP00000322422:W822X	W	-	3	0	IGSF22	18687739	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	3.407000	0.52644	0.540000	0.28808	0.655000	0.94253	TGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.577	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	C	NM_173588	-		18731163	-1	no_errors	ENST00000513874	ensembl	human	known	74_37	nonsense	SNP	0.996	T	T	18731163	C	T	18731163	4	4	205	1	0	0	0	0	0	1	0	0	7602	740	26	2	1235	2	IGSF22	11	18731163	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	10273575	18731163	116275353	257	16778											
SLC6A5	9152	genome.wustl.edu	37	chr11	20673895	20673895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctatggctcttaccgctatCctaactggtccatggtgctc	8	14	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:20673895C>T	ENST00000525748.1	+	15	2404	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	711					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P711N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTACCGCTATCCTAACTGGTC	0.488																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000165970						234	210	218					11																	20673895		2203	4300	6503	SLC6A5	SO:0001583	missense	0			-	HGNC	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2131C>T	11.37:g.20673895C>T	ENSP00000434364:p.Pro711Ser	Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.P711S	ENST00000525748.1	37	c.2131	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792828	0.90453	.	.	ENSG00000165970	ENST00000525748	D	0.86694	-2.16	5.88	5.88	0.94601	.	0.098661	0.64402	D	0.000001	D	0.91791	0.7403	M	0.81942	2.565	0.80722	D	1	B	0.31077	0.307	B	0.43155	0.41	D	0.90666	0.4594	10	0.87932	D	0	.	20.3017	0.98615	0.0:1.0:0.0:0.0	.	711	Q9Y345	SC6A5_HUMAN	S	711	ENSP00000434364:P711S	ENSP00000434364:P711S	P	+	1	0	SLC6A5	20630471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.432000	0.80349	2.800000	0.96347	0.650000	0.86243	CCT	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.488	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	protein_coding	OTTHUMT00000387497.2	C	NM_004211	-		20673895	1	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20673895	C	T	20673895	3	4	205	1	0	0	0	0	1	0	0	0	14695	855	30	2	2189	2	SLC6A5	11	20673895	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1942732	20673895	114332621	258	16779											
SLC17A6	57084	genome.wustl.edu	37	chr11	22399270	22399270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcacatagctataaggaccGagttgattattcataacaaa	6	8	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:22399270G>A	ENST00000263160.3	+	12	2170	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	578					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TATAAGGACCGAGTTGATTAT	0.353																																																	0								ENSG00000091664						36	37	37					11																	22399270		2203	4300	6503	SLC17A6	SO:0001583	missense	0			-	HGNC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1733G>A	11.37:g.22399270G>A	ENSP00000263160:p.Arg578Gln	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A6NKS2	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R578Q	ENST00000263160.3	37	c.1733	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	6.032	0.374216	0.11409	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.60672	0.17	5.85	1.94	0.25998	.	0.594351	0.17503	N	0.171907	T	0.34308	0.0893	N	0.19112	0.55	0.25321	N	0.989117	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.14252	T	0.57	.	5.7573	0.18180	0.2981:0.1457:0.5562:0.0	.	578	Q9P2U8	VGLU2_HUMAN	Q	578;466	ENSP00000263160:R578Q	ENSP00000263160:R578Q	R	+	2	0	SLC17A6	22355846	0.990000	0.36364	0.987000	0.45799	0.794000	0.44872	0.380000	0.20602	0.109000	0.17891	-0.993000	0.02533	CGA	-	NULL		0.353	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	protein_coding	OTTHUMT00000387671.1	G	NM_020346	-		22399270	1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	SNP	0.998	A	A	22399270	G	A	22399270	3	1	205	1	0	0	0	0	1	0	0	0	14429	1058	37	1	1779	1	SLC17A6	11	22399270	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1725375	22399270	112607246	259	16780											
ABTB2	25841	genome.wustl.edu	37	chr11	34180930	34180930	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttattggtcattagtgtcttGaacctggagcaaaggagaca	11	6	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:34180930G>A	ENST00000435224.2	-	14	3034	c.2610C>T	c.(2608-2610)ttC>ttT	p.F870F	ABTB2_ENST00000298992.2_Silent_p.F684F	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	870	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TTAGTGTCTTGAACCTGGAGC	0.483																																																	0								ENSG00000166016						226	166	186					11																	34180930		2202	4298	6500	ABTB2	SO:0001819	synonymous_variant	0			-	HGNC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2610C>T	11.37:g.34180930G>A		Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP							pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.F870	ENST00000435224.2	37	c.2610	CCDS7890.2	11																																																																																			-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.483	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	protein_coding	OTTHUMT00000388703.3	G	NM_145804	-		34180930	-1	no_errors	ENST00000435224	ensembl	human	known	74_37	silent	SNP	1.000	A	A	34180930	G	A	34180930	2	1	205	1	0	0	0	0	0	0	0	1	103	1281	45	2		2	ABTB2	11	34180930	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	11781660	34180930	100825586	260	16781											
CREB3L1	90993	genome.wustl.edu	37	chr11	46333926	46333926	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgacagaggaggagaagcgGaccctgattgctgagggcta	16	8	0	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:46333926G>A	ENST00000529193.1	+	6	1255	c.804G>A	c.(802-804)cgG>cgA	p.R268R	CREB3L1_ENST00000288400.3_Silent_p.R268R			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	268					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGAGAAGCGGACCCTGATTG	0.547			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0								ENSG00000157613						34	38	37					11																	46333926		2154	4285	6439	CREB3L1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.804G>A	11.37:g.46333926G>A		Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q8N2D5|Q96CP0	Silent	SNP							pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.R268	ENST00000529193.1	37	c.804	CCDS53620.1	11																																																																																			-	superfamily_TF_DNA-bd		0.547	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	protein_coding	OTTHUMT00000389702.1	G	NM_052854	-		46333926	1	no_errors	ENST00000288400	ensembl	human	known	74_37	silent	SNP	0.030	A	A	46333926	G	A	46333926	2	1	205	1	0	0	0	0	0	0	0	1	3858	1161	41	2		2	CREB3L1	11	46333926	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	12152996	46333926	88672590	261	16782											
OR4X2	119764	genome.wustl.edu	37	chr11	48266853	48266853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatggagatctgctactcCtccgctacagcccccaaact	6	16	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:48266853C>T	ENST00000302329.3	+	1	246	c.198C>T	c.(196-198)tcC>tcT	p.S66S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGCTACTCCTCCGCTACAG	0.502																																																	0								ENSG00000172208						149	142	145					11																	48266853		2201	4298	6499	OR4X2	SO:0001819	synonymous_variant	0			-	HGNC	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.198C>T	11.37:g.48266853C>T		Somatic	0	67	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	78	14.29	B2RNK3|Q6IF73|Q96R63	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S66	ENST00000302329.3	37	c.198	CCDS31486.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	protein_coding	OTTHUMT00000383376.2	C	NM_001004727	-		48266853	1	no_errors	ENST00000302329	ensembl	human	known	74_37	silent	SNP	0.741	T	T	48266853	C	T	48266853	2	4	205	1	0	0	0	0	0	0	0	1	11087	668	24	2		2	OR4X2	11	48266853	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1932927	48266853	86739663	262	16783											
OR4C15	81309	genome.wustl.edu	37	chr11	55322124	55322124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtgtctcctatgtacttCttcttgggcttcctgtcctt	8	12	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:55322124C>T	ENST00000314644.2	+	1	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTATGTACTTCTTCTTGGGCT	0.443										HNSCC(20;0.049)																																							0								ENSG00000181939						179	142	155					11																	55322124		2201	4296	6497	OR4C15	SO:0001819	synonymous_variant	0			-	HGNC	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.342C>T	11.37:g.55322124C>T		Somatic	0	65	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.57	Q6IFE2	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F114	ENST00000314644.2	37	c.342	CCDS31501.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	C	NM_001001920	-		55322124	1	no_errors	ENST00000314644	ensembl	human	known	74_37	silent	SNP	0.976	T	T	55322124	C	T	55322124	2	4	205	1	0	0	0	0	0	0	0	1	11050	912	32	2		2	OR4C15	11	55322124	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7055271	55322124	79684392	263	16784											
OR5D14	219436	genome.wustl.edu	37	chr11	55563415	55563415	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgaccgctttgtggccatCtgcaatcctctgctttatac	7	12	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:55563415C>T	ENST00000335605.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	128						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(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTGTGGCCATCTGCAATCCTC	0.537																																																	0								ENSG00000186113						105	91	96					11																	55563415		2200	4296	6496	OR5D14	SO:0001819	synonymous_variant	0			-	HGNC	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.384C>T	11.37:g.55563415C>T		Somatic	0	77	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	89	15.89	Q6IF69|Q6IFD4|Q96RB5	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I128	ENST00000335605.1	37	c.384	CCDS31508.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	protein_coding	OTTHUMT00000391513.1	C	NM_001004735	-		55563415	1	no_errors	ENST00000335605	ensembl	human	known	74_37	silent	SNP	0.994	T	T	55563415	C	T	55563415	2	4	205	1	0	0	0	0	0	0	0	1	11157	903	32	2		2	OR5D14	11	55563415	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	241291	55563415	79443101	264	16785											
OR8K5	219453	genome.wustl.edu	37	chr11	55927455	55927455	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggccatggctgacaggatGaaaaattcactgataatgaa	10	6	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:55927455G>A	ENST00000313447.1	-	1	338	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTGACAGGATGAAAAATTCAC	0.428																																																	0								ENSG00000181752						85	85	85					11																	55927455		2201	4295	6496	OR8K5	SO:0001819	synonymous_variant	0			-	HGNC	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.339C>T	11.37:g.55927455G>A		Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	Q6IFB5	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F113	ENST00000313447.1	37	c.339	CCDS31521.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	protein_coding	OTTHUMT00000391543.1	G	NM_001004058	-		55927455	-1	no_errors	ENST00000313447	ensembl	human	known	74_37	silent	SNP	0.015	A	A	55927455	G	A	55927455	2	1	205	1	0	0	0	0	0	0	0	1	11247	1281	45	2		2	OR8K5	11	55927455	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	364040	55927455	79079061	265	16786											
OR10W1	81341	genome.wustl.edu	37	chr11	58035306	58035306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcagttctgggcaggaggGataggccaggaacacaaatt	14	7	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:58035306G>A	ENST00000395079.2	-	1	426	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P9S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGGCAGGAGGGATAGGCCAGG	0.453																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000172772						64	57	59					11																	58035306		2201	4295	6496	OR10W1	SO:0001583	missense	0			-	HGNC	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.25C>T	11.37:g.58035306G>A	ENSP00000378516:p.Pro9Ser	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P9S	ENST00000395079.2	37	c.25	CCDS7968.1	11	.	.	.	.	.	.	.	.	.	.	G	2.353	-0.348457	0.05208	.	.	ENSG00000172772	ENST00000395079	T	0.00495	6.99	4.82	3.86	0.44501	.	0.000000	0.48767	D	0.000173	T	0.00271	0.0008	N	0.00630	-1.315	0.31888	N	0.617536	D	0.60160	0.987	P	0.56612	0.802	T	0.64824	-0.6316	10	0.02654	T	1	.	11.7879	0.52053	0.0:0.0:0.8252:0.1748	.	9	Q8NGF6	O10W1_HUMAN	S	9	ENSP00000378516:P9S	ENSP00000378516:P9S	P	-	1	0	OR10W1	57791882	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.686000	0.05161	2.507000	0.84556	0.591000	0.81541	CCC	-	NULL		0.453	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	protein_coding	OTTHUMT00000394704.1	G	NM_207374	-		58035306	-1	no_errors	ENST00000395079	ensembl	human	known	74_37	missense	SNP	0.983	A	A	58035306	G	A	58035306	3	1	205	1	0	0	0	0	1	0	0	0	10923	1174	41	2	896	2	OR10W1	11	58035306	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2107851	58035306	76971210	266	16787											
OR5B2	390190	genome.wustl.edu	37	chr11	58190110	58190110	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagataaagataactagaaGaacaaaaaagatattaaagc	8	3	0	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:58190110G>A	ENST00000302581.2	-	1	676	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATAACTAGAAGAACAAAAAAG	0.388																																																	0								ENSG00000172365						62	61	61					11																	58190110		2201	4295	6496	OR5B2	SO:0001583	missense	0			-	HGNC	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.625C>T	11.37:g.58190110G>A	ENSP00000303076:p.Leu209Phe	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L209F	ENST00000302581.2	37	c.625	CCDS31550.1	11	.	.	.	.	.	.	.	.	.	.	G	3.378	-0.127046	0.06795	.	.	ENSG00000172365	ENST00000302581	T	0.40476	1.03	3.73	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.269510	0.19656	U	0.109086	T	0.23766	0.0575	N	0.15975	0.35	0.09310	N	1	B	0.20368	0.044	B	0.32022	0.139	T	0.07751	-1.0756	10	0.44086	T	0.13	-13.5428	2.8595	0.05582	0.2152:0.0:0.5482:0.2366	.	209	Q96R09	OR5B2_HUMAN	F	209	ENSP00000303076:L209F	ENSP00000303076:L209F	L	-	1	0	OR5B2	57946686	0.000000	0.05858	0.762000	0.31397	0.043000	0.13939	-0.671000	0.05250	2.098000	0.63641	0.585000	0.79938	CTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.388	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B2	protein_coding	OTTHUMT00000394887.2	G	NM_001005566	-		58190110	-1	no_errors	ENST00000302581	ensembl	human	known	74_37	missense	SNP	0.004	A	A	58190110	G	A	58190110	3	1	205	1	0	0	0	0	1	0	0	0	11152	942	33	2	308	2	OR5B2	11	58190110	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	154804	58190110	76816406	267	16788											
OR4D9	390199	genome.wustl.edu	37	chr11	59283138	59283138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgtggtgaccctgcatttCgtgccctgcatctatgtcta	9	13	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:59283138C>T	ENST00000329328.3	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	251						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(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562																																																	0								ENSG00000172742						254	223	234					11																	59283138		2201	4295	6496	OR4D9	SO:0001819	synonymous_variant	0			-	HGNC	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.753C>T	11.37:g.59283138C>T		Somatic	0	70	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	109	18.66	Q6IFF3	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F251	ENST00000329328.3	37	c.753	CCDS31564.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	protein_coding	OTTHUMT00000394237.1	C	NM_001004711	-		59283138	1	no_errors	ENST00000329328	ensembl	human	known	74_37	silent	SNP	0.087	T	T	59283138	C	T	59283138	2	4	205	1	0	0	0	0	0	0	0	1	11061	883	31	1		1	OR4D9	11	59283138	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1093028	59283138	75723378	268	16789											
FADS1	9415	genome.wustl.edu	37	chr11	61584070	61584070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgatgacccgggagcccCctggatgccggcgggtgaac	17	13	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:61584070C>T	ENST00000522056.1	+	1	195	c.16C>T	c.(16-18)Cct>Tct	p.P6S	FADS2_ENST00000257261.6_Intron|FADS1_ENST00000350997.7_Missense_Mutation_p.G111E|FADS1_ENST00000542506.1_5'Flank|FADS1_ENST00000541683.1_5'UTR|FADS2_ENST00000522639.1_Intron|MIR1908_ENST00000410394.1_RNA|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_5'Flank|FADS2_ENST00000517839.1_Missense_Mutation_p.P6S			O95864	FADS2_HUMAN	fatty acid desaturase 2	0					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCGGGAGCCCCCTGGATGCCG	0.692																																																	0								ENSG00000149485						12	15	14					11																	61584070		1946	4117	6063	FADS1	SO:0001583	missense	0			-	HGNC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000522056.1:c.16C>T	11.37:g.61584070C>T	ENSP00000429500:p.Pro6Ser	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	83	15.31	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP							pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.G111E	ENST00000522056.1	37	c.332		11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.8|26.8|26.8	4.771385|4.771385|4.771385	0.90108|0.90108|0.90108	.|.|.	.|.|.	ENSG00000149485|ENSG00000149485|ENSG00000134824	ENST00000350997|ENST00000491310|ENST00000522056;ENST00000517839	D|D|T	0.93488|0.93547|0.19669	-3.23|-3.24|2.13	4.5|4.5|4.5	2.62|2.62|2.62	0.31277|0.31277|0.31277	Cytochrome b5 (5);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.39572|0.39572|0.39572	0.1083|0.1083|0.1083	H|H|H	0.98155|0.98155|0.98155	4.16|4.16|4.16	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|B	0.69078|.|0.27882	0.997|.|0.192	D|.|B	0.74348|.|0.23716	0.983|.|0.048	T|T|T	0.45234|0.45234|0.45234	-0.9275|-0.9275|-0.9275	9|6|8	0.87932|.|.	D|.|.	0|.|.	1.4335|1.4335|1.4335	10.8036|10.8036|10.8036	0.46504|0.46504|0.46504	0.0:0.8389:0.0:0.1611|0.0:0.8389:0.0:0.1611|0.0:0.8389:0.0:0.1611	.|.|.	54|.|6	O60427|.|B7Z634	FADS1_HUMAN|.|.	E|R|S	111|61|6	ENSP00000322229:G111E|ENSP00000429016:G61R|ENSP00000429500:P6S	ENSP00000322229:G111E|.|.	G|G|P	-|-|+	2|1|1	0|0|0	FADS1|FADS1|FADS2	61340646|61340646|61340646	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.667000|0.667000|0.667000	0.29798|0.29798|0.29798	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	5.372000|5.372000|5.372000	0.66156|0.66156|0.66156	0.598000|0.598000|0.598000	0.29829|0.29829|0.29829	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGG|GGG|CCT	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd		0.692	FADS2-002	PUTATIVE	basic|exp_conf	protein_coding	FADS1	protein_coding	OTTHUMT00000375583.1	C	NM_004265	-		61584070	-1	no_errors	ENST00000350997	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61584070	C	T	61584070	3	4	205	1	0	0	0	0	1	0	0	0	5367	623	22	2	1221	2	FADS1	11	61584070	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2300932	61584070	73422446	269	16790											
NXF1	10482	genome.wustl.edu	37	chr11	62568587	62568587	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatttccagaaaggtttagGatcttcaggttgggtgcctt	11	7	3	1	rs144471031		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:62568587G>A	ENST00000532297.1	-	10	1514	c.885C>T	c.(883-885)atC>atT	p.I295I	NXF1_ENST00000294172.2_Silent_p.I295I|NXF1_ENST00000531131.1_Silent_p.I158I|NXF1_ENST00000439713.2_Silent_p.I295I|NXF1_ENST00000531709.2_Silent_p.I295I			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	295					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGTTTAGGATCTTCAGGT	0.463																																																	0								ENSG00000162231	G	,	0,4402		0,0,2201	112	101	105		885,885	3.5	1	11	dbSNP_134	105	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	NXF1	NM_001081491.1,NM_006362.4	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	295/357,295/620	62568587	1,12999	2201	4299	6500	NXF1	SO:0001819	synonymous_variant	0			-	HGNC	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.885C>T	11.37:g.62568587G>A		Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	44	31.25	B4E269|Q99799|Q9UQL2	Silent	SNP							pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.I295	ENST00000532297.1	37	c.885	CCDS8037.1	11																																																																																			-	pfam_Leu-rich_rpt		0.463	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	protein_coding	OTTHUMT00000395365.2	G	NM_006362	rs144471031		62568587	-1	no_errors	ENST00000294172	ensembl	human	known	74_37	silent	SNP	1.000	A	A	62568587	G	A	62568587	2	1	205	1	0	0	0	0	0	0	0	1	10784	1164	41	2		2	NXF1	11	62568587	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	984517	62568587	72437929	270	16791											
RELA	5970	genome.wustl.edu	37	chr11	65429171	65429171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcacctgtggatgcagcGgtccgggcagagctcagcct	13	14	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:65429171G>A	ENST00000406246.3	-	4	583	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	RELA_ENST00000525693.1_Missense_Mutation_p.R108C|RELA_ENST00000308639.9_Missense_Mutation_p.R108C	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	108	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|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)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|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 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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGATGCAGCGGTCCGGGCAG	0.622																																																	0								ENSG00000173039						66	61	62					11																	65429171		2201	4297	6498	RELA	SO:0001583	missense	0			-	HGNC	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.322C>T	11.37:g.65429171G>A	ENSP00000384273:p.Arg108Cys	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	Q6GTV1|Q6SLK1	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R108C	ENST00000406246.3	37	c.322	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253308	0.80135	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749;ENST00000532879;ENST00000533187;ENST00000527874	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.45	5.45	0.79879	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.051448	0.85682	D	0.000000	T	0.67915	0.2944	M	0.85373	2.75	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.997;0.999;0.999;0.999;1.0;0.999	P;P;P;P;D;D	0.66716	0.834;0.782;0.782;0.861;0.946;0.92	T	0.73506	-0.3961	10	0.87932	D	0	-21.0697	16.7753	0.85549	0.0:0.0:1.0:0.0	.	108;95;108;108;119;108	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	C	108;108;108;108;119;119;99;77;108;77;77	ENSP00000384273:R108C;ENSP00000432537:R108C;ENSP00000311508:R108C;ENSP00000433526:R119C;ENSP00000434372:R99C;ENSP00000436545:R77C;ENSP00000431153:R108C;ENSP00000434098:R77C;ENSP00000435531:R77C	ENSP00000311508:R108C	R	-	1	0	RELA	65185747	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.470000	0.66756	2.571000	0.86741	0.555000	0.69702	CGC	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	protein_coding	OTTHUMT00000390457.2	G	NM_021975	-		65429171	-1	no_errors	ENST00000406246	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65429171	G	A	65429171	3	1	205	1	0	0	0	0	1	0	0	0	13224	1116	39	1	1365	1	RELA	11	65429171	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2860584	65429171	69577345	271	16792											
CHRDL2	25884	genome.wustl.edu	37	chr11	74413853	74413853	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccttttaccagcttcCagaggtagatctccaccaag	6	14	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:74413853C>T	ENST00000376332.3	-	9	1602	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.W369*|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	369					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TACCAGCTTCCAGAGGTAGAT	0.637											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000054938						103	100	101					11																	74413853		2200	4293	6493	CHRDL2	SO:0001587	stop_gained	0			-	HGNC	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1106G>A	11.37:g.74413853C>T	ENSP00000365510:p.Trp369*	Somatic	0	41	0	1152	0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Nonsense_Mutation	SNP							pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.W369*	ENST00000376332.3	37	c.1106		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.841818|6.841818	0.97877|0.97877	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000525413|ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.35278|.	0.0926|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31475|.	-0.9942|.	3|.	.|0.02654	.|T	.|1	-13.294|-13.294	14.339|14.339	0.66611|0.66611	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	169|369;369;255;253;304	.|.	.|ENSP00000263671:W369X	G|W	-|-	1|2	0|0	CHRDL2|CHRDL2	74091501|74091501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.707000|4.707000	0.61852|0.61852	2.517000|2.517000	0.84864|0.84864	0.561000|0.561000	0.74099|0.74099	GGA|TGG	-	NULL		0.637	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	protein_coding	OTTHUMT00000385391.1	C		-		74413853	-1	no_errors	ENST00000263671	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	74413853	C	T	74413853	4	4	205	1	0	0	0	0	0	1	0	0	3376	595	21	2	265	2	CHRDL2	11	74413853	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	8984682	74413853	60592663	272	16793											
RSF1	51773	genome.wustl.edu	37	chr11	77378474	77378474	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcttcggccccgctttcGaactgaccgctttgattctt	9	13	1	2	rs374487749		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:77378474G>A	ENST00000308488.6	-	16	4116	c.3814C>T	c.(3814-3816)Cga>Tga	p.R1272*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R1020*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R1241*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1272					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1272*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCCCGCTTTCGAACTGACCGC	0.483																																																	1	Substitution - Nonsense(1)	large_intestine(1)						ENSG00000048649						74	74	74					11																	77378474		2200	4292	6492	RSF1	SO:0001587	stop_gained	0			-	HGNC	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3814C>T	11.37:g.77378474G>A	ENSP00000311513:p.Arg1272*	Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R1272*	ENST00000308488.6	37	c.3814	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	G	48	13.910734	0.99770	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	.	.	.	5.13	4.22	0.49857	.	0.182394	0.26987	N	0.021485	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4901	13.1533	0.59503	0.0776:0.0:0.9223:0.0	.	.	.	.	X	1272;1020;1241	.	ENSP00000311513:R1272X	R	-	1	2	RSF1	77056122	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.917000	0.56424	1.397000	0.46682	0.462000	0.41574	CGA	-	NULL		0.483	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	protein_coding	OTTHUMT00000318075.2	G	NM_016578	-		77378474	-1	no_errors	ENST00000308488	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	77378474	G	A	77378474	4	1	205	1	0	0	0	0	0	1	0	0	13707	1066	37	1	515	1	RSF1	11	77378474	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2964621	77378474	57628042	273	16794											
NOX4	50507	genome.wustl.edu	37	chr11	89177369	89177369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcactgagaagttgagGgcattcaccagatgggcagc	12	8	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:89177369G>A	ENST00000263317.4	-	5	619	c.381C>T	c.(379-381)gcC>gcT	p.A127A	NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.A103A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Silent_p.A103A|NOX4_ENST00000343727.5_Silent_p.A103A|NOX4_ENST00000535633.1_Silent_p.A103A|NOX4_ENST00000413594.2_Silent_p.A148A|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000534731.1_Silent_p.A127A|NOX4_ENST00000424319.1_Silent_p.A103A|NOX4_ENST00000525196.1_Silent_p.A127A|NOX4_ENST00000528341.1_Silent_p.A102A|NOX4_ENST00000542487.1_Silent_p.A103A			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	127	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|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 protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGAAGTTGAGGGCATTCACCA	0.453																																																	0								ENSG00000086991						133	112	119					11																	89177369		2201	4299	6500	NOX4	SO:0001819	synonymous_variant	0			-	HGNC	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.381C>T	11.37:g.89177369G>A		Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP							pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.A148	ENST00000263317.4	37	c.444	CCDS8285.1	11																																																																																			-	pfam_Fe3_Rdtase_TM_dom		0.453	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	protein_coding	OTTHUMT00000394054.1	G	NM_016931	-		89177369	-1	no_errors	ENST00000413594	ensembl	human	known	74_37	silent	SNP	0.996	A	A	89177369	G	A	89177369	2	1	205	1	0	0	0	0	0	0	0	1	10560	1219	43	2		2	NOX4	11	89177369	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	11798895	89177369	45829147	274	16795											
TRPC6	7225	genome.wustl.edu	37	chr11	101359678	101359678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatacataccttgctgcatGgagcaaaccagtaaatgaga	8	9	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:101359678G>A	ENST00000344327.3	-	4	1707	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.P428L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	428					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGCTGCATGGAGCAAACCA	0.438																																					Colon(166;1315 1927 11094 12848 34731)												0								ENSG00000137672						88	88	88					11																	101359678		2203	4299	6502	TRPC6	SO:0001583	missense	0			-	HGNC	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1283C>T	11.37:g.101359678G>A	ENSP00000340913:p.Pro428Leu	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.P428L	ENST00000344327.3	37	c.1283	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989516	0.74589	.	.	ENSG00000137672	ENST00000344327;ENST00000532133	T;T	0.63744	-0.06;-0.06	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89062	0.3463	10	0.87932	D	0	-13.4116	19.9928	0.97374	0.0:0.0:1.0:0.0	.	428	Q9Y210	TRPC6_HUMAN	L	428	ENSP00000340913:P428L;ENSP00000435574:P428L	ENSP00000340913:P428L	P	-	2	0	TRPC6	100864888	1.000000	0.71417	0.993000	0.49108	0.730000	0.41778	9.797000	0.99108	2.745000	0.94114	0.650000	0.86243	CCA	-	tigrfam_TRP_channel		0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	protein_coding	OTTHUMT00000394770.1	G	NM_004621	-		101359678	-1	no_errors	ENST00000344327	ensembl	human	known	74_37	missense	SNP	1.000	A	A	101359678	G	A	101359678	3	1	205	1	0	0	0	0	1	0	0	0	16590	1348	47	2	1552	2	TRPC6	11	101359678	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	12182309	101359678	33646838	275	16796											
SLN	6588	genome.wustl.edu	37	chr11	107578584	107578584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgataggacctcacaaGgagccacataagaataaccg	9	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:107578584G>A	ENST00000531293.1	-	3	425	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	SLN_ENST00000525934.1_Missense_Mutation_p.L25F|SLN_ENST00000305991.2_Missense_Mutation_p.L25F			O00631	SARCO_HUMAN	sarcolipin	25					calcium ion transport (GO:0006816)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein complex disassembly (GO:0043242)|positive regulation of protein depolymerization (GO:1901881)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of relaxation of muscle (GO:1901077)|sarcoplasmic reticulum calcium ion transport (GO:0070296)	integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	ATPase binding (GO:0051117)|enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		GACCTCACAAGGAGCCACATA	0.517																																																	0								ENSG00000170290						124	122	123					11																	107578584		2201	4298	6499	SLN	SO:0001583	missense	0			-	HGNC	U96094	CCDS31667.1	11q22.3	2014-04-11			ENSG00000170290	ENSG00000170290			11089	protein-coding gene	gene with protein product		602203				9367679	Standard	NM_003063		Approved	MGC12301, MGC125854, MGC125855	uc001pjp.3	O00631	OTTHUMG00000166364	ENST00000531293.1:c.73C>T	11.37:g.107578584G>A	ENSP00000435380:p.Leu25Phe	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	Q6ICV3	Missense_Mutation	SNP							pfam_Sarcolipin	p.L25F	ENST00000531293.1	37	c.73	CCDS31667.1	11	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308427	0.40895	.	.	ENSG00000170290	ENST00000531293;ENST00000305991;ENST00000525934	.	.	.	5.66	3.78	0.43462	.	0.000000	0.35615	N	0.003086	T	0.63721	0.2535	.	.	.	0.31486	N	0.666536	D	0.69078	0.997	D	0.81914	0.995	T	0.68405	-0.5417	8	0.87932	D	0	.	7.6793	0.28505	0.1843:0.0:0.8157:0.0	.	25	O00631	SARCO_HUMAN	F	25	.	ENSP00000304707:L25F	L	-	1	0	SLN	107083794	1.000000	0.71417	0.996000	0.52242	0.806000	0.45545	3.100000	0.50275	1.392000	0.46585	0.650000	0.86243	CTT	-	pfam_Sarcolipin		0.517	SLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLN	protein_coding	OTTHUMT00000389414.1	G	NM_003063	-		107578584	-1	no_errors	ENST00000305991	ensembl	human	known	74_37	missense	SNP	0.996	A	A	107578584	G	A	107578584	3	1	205	1	0	0	0	0	1	0	0	0	14760	1000	35	2	26	2	SLN	11	107578584	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	6218906	107578584	27427932	276	16797											
ATM	472	genome.wustl.edu	37	chr11	108159767	108159767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattaaagcaacatttgcCtatatcagcaattgtcataa	6	7	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:108159767C>T	ENST00000452508.2	+	29	4362	c.4173C>T	c.(4171-4173)gcC>gcT	p.A1391A	ATM_ENST00000278616.4_Silent_p.A1391A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1391					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.Y1392fs*7(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAACATTTGCCTATATCAGCA	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000149311						88	85	86					11																	108159767		2201	4297	6498	ATM	SO:0001819	synonymous_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	HGNC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4173C>T	11.37:g.108159767C>T		Somatic	0	62	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	88	21.43	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A1391	ENST00000452508.2	37	c.4173	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	10.06	1.248095	0.22880	.	.	ENSG00000149311	ENST00000531525	.	.	.	5.36	0.638	0.17742	.	.	.	.	.	T	0.53384	0.1793	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42965	-0.9420	4	.	.	.	.	6.7175	0.23312	0.0:0.5471:0.1308:0.3222	.	.	.	.	L	61	.	.	P	+	2	0	ATM	107664977	0.748000	0.28294	1.000000	0.80357	0.998000	0.95712	-0.109000	0.10840	0.213000	0.20722	0.650000	0.86243	CCT	-	superfamily_ARM-type_fold		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	protein_coding	OTTHUMT00000389938.1	C	NM_000051	-		108159767	1	no_errors	ENST00000278616	ensembl	human	known	74_37	silent	SNP	0.994	T	T	108159767	C	T	108159767	2	4	205	1	0	0	0	0	0	0	0	1	1109	668	24	2		2	ATM	11	108159767	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	581183	108159767	26846749	277	16798											
DLAT	1737	genome.wustl.edu	37	chr11	111904147	111904147	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtacttcttcctgccctctCtcccaccatgaccatgggca	7	17	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:111904147C>T	ENST00000280346.6	+	5	1339	c.680C>T	c.(679-681)tCt>tTt	p.S227F	DLAT_ENST00000393051.1_Intron|DLAT_ENST00000537636.1_Intron|RNU6-893P_ENST00000458841.1_RNA	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	227	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCTGCCCTCTCTCCCACCATG	0.428																																																	0								ENSG00000150768						72	69	70					11																	111904147		2201	4297	6498	DLAT	SO:0001583	missense	0			-	HGNC	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.680C>T	11.37:g.111904147C>T	ENSP00000280346:p.Ser227Phe	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	62	15.07	Q16783|Q53EP3	Missense_Mutation	SNP							pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1	p.S227F	ENST00000280346.6	37	c.680	CCDS8354.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.289575	0.95546	.	.	ENSG00000150768	ENST00000280346;ENST00000534998	T	0.59638	0.25	6.16	6.16	0.99307	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83320	-0.0018	10	0.87932	D	0	-21.203	20.8598	0.99761	0.0:1.0:0.0:0.0	.	227	P10515	ODP2_HUMAN	F	227;195	ENSP00000280346:S227F	ENSP00000280346:S227F	S	+	2	0	DLAT	111409357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.937000	0.99478	0.650000	0.86243	TCT	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1		0.428	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	protein_coding	OTTHUMT00000258167.1	C	NM_001931	-		111904147	1	no_errors	ENST00000280346	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111904147	C	T	111904147	3	4	205	1	0	0	0	0	1	0	0	0	4551	913	32	2	698	2	DLAT	11	111904147	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3744380	111904147	23102369	278	16799											
ANKK1	255239	genome.wustl.edu	37	chr11	113270707	113270707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtccagaggagcaccttCctgagtgtcatcaacctcct	10	14	2	2	rs564355960	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:113270707C>T	ENST00000303941.3	+	8	2110	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	672							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGAGCACCTTCCTGAGTGTCA	0.632													C|||	2	0.000399361	0	0	5008	,	,		20403	0		0	False		,,,				2504	0.002																0								ENSG00000170209						69	77	74					11																	113270707		2083	4203	6286	ANKK1	SO:0001819	synonymous_variant	0			-	HGNC	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2016C>T	11.37:g.113270707C>T		Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44		Silent	SNP							pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.F672	ENST00000303941.3	37	c.2016	CCDS44734.1	11																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	protein_coding	OTTHUMT00000395830.1	C	NM_178510	-		113270707	1	no_errors	ENST00000303941	ensembl	human	known	74_37	silent	SNP	0.998	T	T	113270707	C	T	113270707	2	4	205	1	0	0	0	0	0	0	0	1	631	854	30	2		2	ANKK1	11	113270707	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1366560	113270707	21735809	279	16800											
MLL	4297	genome.wustl.edu	37	chr11	118348798	118348798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagtaaagaaaggacgtCgatcgaggcggtgtgggcag	16	8	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:118348798C>T	ENST00000389506.5	+	5	3451	c.3451C>T	c.(3451-3453)Cga>Tga	p.R1151*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R1151*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1151*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1151					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAAAGGACGTCGATCGAGGCG	0.512																																																	0								ENSG00000118058						182	181	181					11																	118348798		2200	4296	6496	KMT2A	SO:0001587	stop_gained	0			-	HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3451C>T	11.37:g.118348798C>T	ENSP00000374157:p.Arg1151*	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	48	14.29	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R1151*	ENST00000389506.5	37	c.3451	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.126688	0.98667	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000533790	.	.	.	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3208	0.66484	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1151;1184;1151;1151;61;229	.	ENSP00000346516:R1151X	R	+	1	2	MLL	117854008	0.998000	0.40836	0.993000	0.49108	0.963000	0.63663	2.392000	0.44433	1.550000	0.49438	0.655000	0.94253	CGA	-	pfam_Znf_CXXC,pirsf_MeTrfase_trithorax,pfscan_Znf_CXXC		0.512	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	C	NM_005933	-		118348798	1	no_errors	ENST00000389506	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	118348798	C	T	118348798	4	4	205	1	0	0	0	0	0	1	0	0	9622	876	31	1	3469	1	MLL	11	118348798	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5078091	118348798	16657718	280	16801											
ESAM	90952	genome.wustl.edu	37	chr11	124626140	124626140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtctggaaggatggaagCtgccgatcccactggtattg	13	8	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr11:124626140C>T	ENST00000278927.5	-	4	699	c.570G>A	c.(568-570)caG>caA	p.Q190Q	ESAM_ENST00000442070.2_Intron|RP11-677M14.3_ENST00000504932.2_RNA	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	190	Ig-like C2-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AGGATGGAAGCTGCCGATCCC	0.572																																																	0								ENSG00000149564						62	54	56					11																	124626140		2201	4299	6500	ESAM	SO:0001819	synonymous_variant	0			-	HGNC	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.570G>A	11.37:g.124626140C>T		Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	86	16.50	B4DVN8|Q96T50	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q190	ENST00000278927.5	37	c.570	CCDS8453.1	11																																																																																			-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.572	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESAM	protein_coding	OTTHUMT00000324686.1	C	NM_138961	-		124626140	-1	no_errors	ENST00000278927	ensembl	human	known	74_37	silent	SNP	0.000	T	T	124626140	C	T	124626140	2	4	205	1	0	0	0	0	0	0	0	1	5249	796	28	2		2	ESAM	11	124626140	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6277342	124626140	10380376	281	16802											
A2M	2	genome.wustl.edu	37	chr12	9225050	9225050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaaaggggaactcttcCttttctgggagaatattgta	10	6	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:9225050C>T	ENST00000318602.7	-	31	4315	c.4008G>A	c.(4006-4008)aaG>aaA	p.K1336K		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1336					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAACTCTTCCTTTTCTGGGA	0.443																																																	0								ENSG00000175899						106	104	104					12																	9225050		1969	4190	6159	A2M	SO:0001819	synonymous_variant	0			-	HGNC	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4008G>A	12.37:g.9225050C>T		Somatic	0	58	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	61	19.74	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.K1336	ENST00000318602.7	37	c.4008	CCDS44827.1	12																																																																																			-	NULL		0.443	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	protein_coding	OTTHUMT00000317233.2	C	NM_000014	-		9225050	-1	no_errors	ENST00000318602	ensembl	human	known	74_37	silent	SNP	0.000	T	T	9225050	C	T	9225050	2	4	205	1	0	0	0	0	0	0	0	1	4	680	24	2		2	A2M	12	9225050	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		9225050	124626845	282	16803											
GRIN2B	2904	genome.wustl.edu	37	chr12	13906442	13906442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagagatgagcccagtgggGaactccgcaggcactgtgtc	14	11	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:13906442G>A	ENST00000609686.1	-	3	1028	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	273					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCCAGTGGGGAACTCCGCAG	0.542																																																	0								ENSG00000273079						85	77	80					12																	13906442		2203	4300	6503	GRIN2B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.819C>T	12.37:g.13906442G>A		Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP							pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F273	ENST00000609686.1	37	c.819	CCDS8662.1	12																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	protein_coding	OTTHUMT00000268014.2	G		-		13906442	-1	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	SNP	1.000	A	A	13906442	G	A	13906442	2	1	205	1	0	0	0	0	0	0	0	1	6782	1165	41	2		2	GRIN2B	12	13906442	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4681392	13906442	119945453	283	16804											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18715756	18715756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagacttttcctcaggaatCctgtttgctgagtacaacta	7	10	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:18715756C>T	ENST00000266497.5	+	25	3625	c.3587C>T	c.(3586-3588)tCc>tTc	p.S1196F	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1237F|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S1196F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1196					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCTCAGGAATCCTGTTTGCTG	0.398																																																	0								ENSG00000139144						110	108	108					12																	18715756		1866	4103	5969	PIK3C2G	SO:0001583	missense	0			-	HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3587C>T	12.37:g.18715756C>T	ENSP00000266497:p.Ser1196Phe	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A1L3U0	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S1237F	ENST00000266497.5	37	c.3710	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301362	0.23736	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.61040	0.14;0.14;0.16	3.9	2.99	0.34606	Phox homologous domain (2);	1.607240	0.03435	N	0.208438	T	0.62159	0.2405	L	0.54323	1.7	0.34608	D	0.717277	P;P;P	0.50443	0.893;0.935;0.868	B;P;B	0.48815	0.387;0.591;0.312	T	0.56854	-0.7910	10	0.20519	T	0.43	-4.9419	10.8801	0.46933	0.0:0.5987:0.4012:0.0	.	1236;1237;1196	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	F	1196;1196;1237	ENSP00000404845:S1196F;ENSP00000266497:S1196F;ENSP00000445381:S1237F	ENSP00000266497:S1196F	S	+	2	0	PIK3C2G	18607023	0.214000	0.23563	0.966000	0.40874	0.275000	0.26752	1.535000	0.36061	1.213000	0.43380	0.591000	0.81541	TCC	-	superfamily_Phox		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	C	NM_004570	-		18715756	1	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	SNP	0.887	T	T	18715756	C	T	18715756	3	4	205	1	0	0	0	0	1	0	0	0	11913	855	30	2	3685	2	PIK3C2G	12	18715756	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	4809314	18715756	115136139	284	16805											
PLCZ1	89869	genome.wustl.edu	37	chr12	18852761	18852761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttttcgggcttgtgtctCcccaatagaattattttcat	7	8	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:18852761C>T	ENST00000538330.1	-	6	868	c.487G>A	c.(487-489)Gag>Aag	p.E163K	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E381K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E186K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E188K|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E379K|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E244K					phospholipase C, zeta 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)					GCTTGTGTCTCCCCAATAGAA	0.323																																																	0								ENSG00000139151						46	51	49					12																	18852761		2202	4294	6496	PLCZ1	SO:0001583	missense	0			-	HGNC	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	ENST00000538330.1:c.487G>A	12.37:g.18852761C>T	ENSP00000445880:p.Glu163Lys	Somatic	0	104	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	122	18.67		Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E381K	ENST00000538330.1	37	c.1141		12	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048366	0.93740	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-0.2	5.88	5.88	0.94601	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	H	0.95470	3.675	0.49299	D	0.999774	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.93563	0.6897	10	0.87932	D	0	.	16.9709	0.86298	0.0:1.0:0.0:0.0	.	381;163	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	K	163;381;379;186;244;188;116;122	ENSP00000445880:E163K;ENSP00000266505:E381K;ENSP00000402358:E379K;ENSP00000400504:E186K;ENSP00000443349:E244K;ENSP00000445026:E188K;ENSP00000445889:E116K;ENSP00000443762:E122K	ENSP00000266505:E381K	E	-	1	0	PLCZ1	18744028	1.000000	0.71417	0.901000	0.35422	0.991000	0.79684	5.556000	0.67307	2.779000	0.95612	0.650000	0.86243	GAG	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.323	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	protein_coding	OTTHUMT00000401666.3	C	NM_033123	-		18852761	-1	no_errors	ENST00000266505	ensembl	human	known	74_37	missense	SNP	0.996	T	T	18852761	C	T	18852761	3	4	205	1	0	0	0	0	1	0	0	0	12046	864	30	2	709	2	PLCZ1	12	18852761	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	137005	18852761	114999134	285	16806											
SYT10	341359	genome.wustl.edu	37	chr12	33538212	33538212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaaacatgatttcaccCaggtctatactttcctagaa	7	9	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:33538212C>T	ENST00000228567.3	-	4	1388	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	SYT10_ENST00000535526.1_Silent_p.L183L	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	364					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGATTTCACCCAGGTCTATAC	0.398																																																	0								ENSG00000110975						103	87	93					12																	33538212		2203	4300	6503	SYT10	SO:0001819	synonymous_variant	0			-	HGNC	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1092G>A	12.37:g.33538212C>T		Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	Q495U2	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.L364	ENST00000228567.3	37	c.1092	CCDS8732.1	12																																																																																			-	superfamily_C2_dom		0.398	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	protein_coding	OTTHUMT00000403222.1	C	NM_198992	-		33538212	-1	no_errors	ENST00000228567	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33538212	C	T	33538212	2	4	205	1	0	0	0	0	0	0	0	1	15473	581	21	2		2	SYT10	12	33538212	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	14685451	33538212	100313683	286	16807											
KRT86	3892	genome.wustl.edu	37	chr12	52699530	52699530	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaacgagctgaaccgcatGatccagaggctgacggctga	12	11	1	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:52699530G>A	ENST00000423955.2	+	8	1162	c.984G>A	c.(982-984)atG>atA	p.M328I	KRT86_ENST00000293525.5_Missense_Mutation_p.M328I|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Missense_Mutation_p.M328I			O43790	KRT86_HUMAN	keratin 86	328	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAACCGCATGATCCAGAGGC	0.592																																																	0								ENSG00000170442						122	110	114					12																	52699530		2203	4300	6503	KRT86	SO:0001583	missense	0			-	HGNC	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.984G>A	12.37:g.52699530G>A	ENSP00000444533:p.Met328Ile	Somatic	1	103	0.96		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	135	17.18	P78387	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.M328I	ENST00000423955.2	37	c.984	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449156	0.43531	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.88664	-2.41;-2.41;-2.41	4.84	1.84	0.25277	Filament (1);	0.379626	0.21954	N	0.066699	D	0.86674	0.5989	M	0.64080	1.96	0.29632	N	0.845405	B	0.02656	0.0	B	0.06405	0.002	T	0.78653	-0.2120	10	0.49607	T	0.09	.	14.713	0.69247	0.0:0.3129:0.6871:0.0	.	328	O43790	KRT86_HUMAN	I	328	ENSP00000443169:M328I;ENSP00000444533:M328I;ENSP00000293525:M328I	ENSP00000293525:M328I	M	+	3	0	AC021066.1;KRT86	50985797	0.679000	0.27596	0.994000	0.49952	0.961000	0.63080	0.965000	0.29319	0.080000	0.16959	0.505000	0.49811	ATG	-	pfam_IF,superfamily_Prefoldin		0.592	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	protein_coding	OTTHUMT00000404911.1	G	NM_002284	-		52699530	1	no_errors	ENST00000293525	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52699530	G	A	52699530	3	1	205	1	0	0	0	0	1	0	0	0	8502	1290	45	2	1006	2	KRT86	12	52699530	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	19161318	52699530	81152365	287	16808											
KRT75	9119	genome.wustl.edu	37	chr12	52826886	52826886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttcaagcctgcccctctCggtggtgatgctttccagct	10	14	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:52826886C>T	ENST00000252245.5	-	2	869	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	217	Coil 1B.|Rod.				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)		CTGCCCCTCTCGGTGGTGATG	0.557																																																	0								ENSG00000170454						115	107	110					12																	52826886		2203	4300	6503	KRT75	SO:0001583	missense	0			-	HGNC	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.649G>A	12.37:g.52826886C>T	ENSP00000252245:p.Glu217Lys	Somatic	0	31	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	B4DQU4|Q9NSA9	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E217K	ENST00000252245.5	37	c.649	CCDS8827.1	12	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191405	0.78902	.	.	ENSG00000170454	ENST00000252245	D	0.90324	-2.65	5.77	3.95	0.45737	Filament (1);	0.000000	0.53938	D	0.000042	D	0.95790	0.8630	M	0.93241	3.395	0.41051	D	0.985301	D	0.65815	0.995	D	0.63381	0.914	D	0.96056	0.9035	10	0.87932	D	0	.	12.7179	0.57125	0.0:0.866:0.0:0.134	.	217	O95678	K2C75_HUMAN	K	217	ENSP00000252245:E217K	ENSP00000252245:E217K	E	-	1	0	KRT75	51113153	1.000000	0.71417	0.640000	0.29408	0.511000	0.34104	6.042000	0.70996	0.788000	0.33755	0.655000	0.94253	GAG	-	pfam_IF		0.557	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	protein_coding	OTTHUMT00000404968.1	C	NM_004693	-		52826886	-1	no_errors	ENST00000252245	ensembl	human	known	74_37	missense	SNP	0.998	T	T	52826886	C	T	52826886	3	4	205	1	0	0	0	0	1	0	0	0	8490	893	31	1	1038	1	KRT75	12	52826886	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	127356	52826886	81025009	288	16809											
SP1	6667	genome.wustl.edu	37	chr12	53800456	53800456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaggaaggagaaaacaGcccagatgcccaaccccaag	12	11	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:53800456G>A	ENST00000327443.4	+	4	1861	c.1763G>A	c.(1762-1764)aGc>aAc	p.S588N	SP1_ENST00000426431.2_Missense_Mutation_p.S581N	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	588	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|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)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGAGAAAACAGCCCAGATGCC	0.557																																																	0								ENSG00000185591						84	83	83					12																	53800456		2203	4300	6503	SP1	SO:0001583	missense	0			-	HGNC	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1763G>A	12.37:g.53800456G>A	ENSP00000329357:p.Ser588Asn	Somatic	0	77	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	85	17.31	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S588N	ENST00000327443.4	37	c.1763	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723228	0.89298	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08896	3.05;3.04	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	T	0.23451	0.0567	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.00366	-1.1786	10	0.32370	T	0.25	.	16.9838	0.86335	0.0:0.0:1.0:0.0	.	588	P08047	SP1_HUMAN	N	588;581	ENSP00000329357:S588N;ENSP00000404263:S581N	ENSP00000329357:S588N	S	+	2	0	SP1	52086723	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.500000	0.66943	2.632000	0.89209	0.462000	0.41574	AGC	-	NULL		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	protein_coding	OTTHUMT00000407044.1	G		-		53800456	1	no_errors	ENST00000327443	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53800456	G	A	53800456	3	1	205	1	0	0	0	0	1	0	0	0	14967	971	34	2	1777	2	SP1	12	53800456	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	973570	53800456	80051439	289	16810											
OR6C3	254786	genome.wustl.edu	37	chr12	55726200	55726200	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaggctttctccacttgttCttctcacatgattgtcattt	5	10	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:55726200C>T	ENST00000379667.1	+	1	716	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	239					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCCACTTGTTCTTCTCACATG	0.358																																																	0								ENSG00000205329						132	129	130					12																	55726200		2203	4300	6503	OR6C3	SO:0001583	missense	0			-	HGNC	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.716C>T	12.37:g.55726200C>T	ENSP00000368989:p.Ser239Phe	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	47	18.97		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239F	ENST00000379667.1	37	c.716	CCDS31819.1	12	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413128	0.25465	.	.	ENSG00000205329	ENST00000379667	T	0.37058	1.22	5.13	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000194	T	0.61438	0.2347	M	0.86864	2.845	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56366	-0.7991	10	0.72032	D	0.01	.	9.2948	0.37808	0.0:0.6445:0.2793:0.0762	.	239	Q9NZP0	OR6C3_HUMAN	F	239	ENSP00000368989:S239F	ENSP00000368989:S239F	S	+	2	0	OR6C3	54012467	0.000000	0.05858	0.998000	0.56505	0.145000	0.21501	-1.107000	0.03316	1.495000	0.48549	0.650000	0.86243	TCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.358	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C3	protein_coding	OTTHUMT00000406309.1	C		-		55726200	1	no_errors	ENST00000379667	ensembl	human	known	74_37	missense	SNP	0.098	T	T	55726200	C	T	55726200	3	4	205	1	0	0	0	0	1	0	0	0	11194	913	32	2	718	2	OR6C3	12	55726200	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1925744	55726200	78125695	290	16811											
CAND1	55832	genome.wustl.edu	37	chr12	67699121	67699121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctttagatcagccttcctCgtttgatgcaactccttata	5	12	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:67699121C>T	ENST00000545606.1	+	10	2110	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	558					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)		CAGCCTTCCTCGTTTGATGCA	0.388																																																	0								ENSG00000111530						147	143	144					12																	67699121		2203	4300	6503	CAND1	SO:0001583	missense	0			-	HGNC		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.1673C>T	12.37:g.67699121C>T	ENSP00000442318:p.Ser558Leu	Somatic	0	36	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP							pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S558L	ENST00000545606.1	37	c.1673	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	C	8.925	0.961953	0.18583	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.69306	-0.39	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.334869	0.35838	N	0.002948	T	0.63082	0.2481	L	0.49126	1.545	0.51767	D	0.999937	B	0.02656	0.0	B	0.01281	0.0	T	0.56854	-0.7910	9	.	.	.	-8.4492	19.5983	0.95549	0.0:1.0:0.0:0.0	.	558	Q86VP6	CAND1_HUMAN	L	558	ENSP00000442318:S558L	.	S	+	2	0	CAND1	65985388	0.957000	0.32711	0.982000	0.44146	0.967000	0.64934	2.240000	0.43088	2.704000	0.92352	0.650000	0.86243	TCG	-	superfamily_ARM-type_fold		0.388	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	C	NM_018448	-		67699121	1	no_errors	ENST00000545606	ensembl	human	known	74_37	missense	SNP	0.994	T	T	67699121	C	T	67699121	3	4	205	1	0	0	0	0	1	0	0	0	2617	893	31	1	1711	1	CAND1	12	67699121	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	11972921	67699121	66152774	291	16812											
KCNMB4	27345	genome.wustl.edu	37	chr12	70824430	70824430	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaagcgcaagttctcTtaaaggggaaggaggcttgt	14	5	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:70824430T>C	ENST00000258111.4	+	3	1089	c.630T>C	c.(628-630)tcT>tcC	p.S210S		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	210					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCAAGTTCTCTTAAAGGGGAA	0.547																																																	0								ENSG00000135643						63	56	58					12																	70824430		2203	4300	6503	KCNMB4	SO:0001819	synonymous_variant	0			-	HGNC	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.630T>C	12.37:g.70824430T>C		Somatic	0	36	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q8IVR3|Q9NPA4|Q9P0G5	Silent	SNP							pfam_K_chnl_Ca-activ_BK_bsu	p.S210	ENST00000258111.4	37	c.630	CCDS8997.1	12																																																																																			-	NULL		0.547	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB4	protein_coding	OTTHUMT00000395208.1	T	NM_014505	-		70824430	1	no_errors	ENST00000258111	ensembl	human	known	74_37	silent	SNP	0.997	C	C	70824430	T	C	70824430	2	2	205	1	0	0	0	0	0	0	0	1	8079	1596	56	5		5	KCNMB4	12	70824430	Silent	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	3125309	70824430	63027465	292	16813											
PTPRB	5787	genome.wustl.edu	37	chr12	70988263	70988263	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacctgtcctgactagtttCcacctgtagttttgcagccc	7	13	0	1	rs267603653		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:70988263C>T	ENST00000261266.5	-	4	875	c.846G>A	c.(844-846)tgG>tgA	p.W282*	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.W282*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.W282*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.W282*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.W500*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.W500*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.W499*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	282	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGACTAGTTTCCACCTGTAGT	0.428																																																	0								ENSG00000127329						117	114	115					12																	70988263		1933	4136	6069	PTPRB	SO:0001587	stop_gained	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.846G>A	12.37:g.70988263C>T	ENSP00000261266:p.Trp282*	Somatic	0	72	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	77	14.44	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.W500*	ENST00000261266.5	37	c.1500	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.191638	0.94923	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.	.	.	5.61	2.52	0.30459	.	0.336013	0.32884	N	0.005531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.1898	0.15203	0.3355:0.4876:0.0:0.1769	.	.	.	.	X	500;282;500;500;282;282;282;499;379	.	ENSP00000261266:W282X	W	-	3	0	PTPRB	69274530	0.999000	0.42202	0.400000	0.26346	0.879000	0.50718	1.024000	0.30077	0.738000	0.32606	0.655000	0.94253	TGG	-	pfscan_Fibronectin_type3		0.428	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	C		-		70988263	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	nonsense	SNP	0.765	T	T	70988263	C	T	70988263	4	4	205	1	0	0	0	0	0	1	0	0	12804	856	30	2	5263	2	PTPRB	12	70988263	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	163833	70988263	62863632	293	16814											
IGF1	3479	genome.wustl.edu	37	chr12	102796307	102796307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatcctgtagttcttgtttCctgcactccctctacttgcg	6	14	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:102796307C>T	ENST00000424202.2	-	4	541	c.392G>A	c.(391-393)gGa>gAa	p.G131E	IGF1_ENST00000456098.1_3'UTR|IGF1_ENST00000481539.1_5'UTR|IGF1_ENST00000392904.1_3'UTR|IGF1_ENST00000337514.6_Missense_Mutation_p.G147E	NM_001111284.1	NP_001104754.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	0					blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GTTCTTGTTTCCTGCACTCCC	0.408																																																	0								ENSG00000017427						294	257	269					12																	102796307		2203	4300	6503	IGF1	SO:0001583	missense	0			-	HGNC	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"Endogenous ligands"	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000424202.2:c.392G>A	12.37:g.102796307C>T	ENSP00000416811:p.Gly131Glu	Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP							pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF-I,prints_Insulin_family,prints_Insulin-like_growth_factor	p.G147E	ENST00000424202.2	37	c.440	CCDS44960.1	12	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927403	0.52759	.	.	ENSG00000017427	ENST00000337514;ENST00000424202	D;D	0.98329	-4.87;-4.84	5.77	5.77	0.91146	.	.	.	.	.	D	0.97845	0.9292	M	0.85197	2.74	0.80722	D	1	B;B	0.28900	0.227;0.005	B;B	0.22152	0.038;0.005	D	0.96394	0.9291	9	0.72032	D	0.01	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	178;131	Q59GC5;Q14620	.;.	E	147;131	ENSP00000337612:G147E;ENSP00000416811:G131E	ENSP00000337612:G147E	G	-	2	0	IGF1	101320437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.317000	0.65822	2.885000	0.99019	0.655000	0.94253	GGA	-	NULL		0.408	IGF1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	IGF1	protein_coding	OTTHUMT00000313857.1	C	NM_000618	-		102796307	-1	no_errors	ENST00000337514	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102796307	C	T	102796307	3	4	205	1	0	0	0	0	1	0	0	0	7572	855	30	2	25	2	IGF1	12	102796307	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	31808044	102796307	31055588	294	16815											
CMKLR1	1240	genome.wustl.edu	37	chr12	108685801	108685801	+	Silent	SNP	G	G	A													cccatgaaaacatacagaatGgggttcatgcagctgttggc							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:108685801G>A	ENST00000312143.7	-	3	1302	c.939C>T	c.(937-939)ccC>ccT	p.P313P	CMKLR1_ENST00000552995.1_Silent_p.P311P|CMKLR1_ENST00000412676.1_Silent_p.P313P|CMKLR1_ENST00000550402.1_Silent_p.P313P|CMKLR1_ENST00000397688.2_Silent_p.P311P	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	313					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CATACAGAATGGGGTTCATGC	0.542																																																	0								ENSG00000174600						72	75	74					12																	108685801		2004	4174	6178	CMKLR1	SO:0001819	synonymous_variant	0			-	HGNC	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.939C>T	12.37:g.108685801G>A		Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.P313	ENST00000312143.7	37	c.939	CCDS44965.1	12																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	protein_coding	OTTHUMT00000404867.1	G		-		108685801	-1	no_errors	ENST00000312143	ensembl	human	known	74_37	silent	SNP	0.998	A	A	108685801	G	A	108685801	2	1	205	1	0	0	0	0	0	0	0	1	3581	1335	47	2		2	CMKLR1	12	108685801	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5889494	108685801	25166094	295	16816	482	2									
CMKLR1	1240	genome.wustl.edu	37	chr12	108685802	108685802	+	Missense_Mutation	SNP	G	G	A													ccatgaaaacatacagaatgGggttcatgcagctgttggca							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:108685802G>A	ENST00000312143.7	-	3	1301	c.938C>T	c.(937-939)cCc>cTc	p.P313L	CMKLR1_ENST00000552995.1_Missense_Mutation_p.P311L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.P313L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.P313L|CMKLR1_ENST00000397688.2_Missense_Mutation_p.P311L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	313					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATACAGAATGGGGTTCATGCA	0.542																																																	0								ENSG00000174600						72	75	74					12																	108685802		2006	4174	6180	CMKLR1	SO:0001583	missense	0			-	HGNC	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.938C>T	12.37:g.108685802G>A	ENSP00000311733:p.Pro313Leu	Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.P313L	ENST00000312143.7	37	c.938	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	26.7	4.758293	0.89843	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97965	1.0340	10	0.87932	D	0	.	18.065	0.89388	0.0:0.0:1.0:0.0	.	313	Q99788	CML1_HUMAN	L	313;313;311;311;313	ENSP00000311733:P313L;ENSP00000401293:P313L;ENSP00000380803:P311L;ENSP00000447579:P311L;ENSP00000449716:P313L	ENSP00000311733:P313L	P	-	2	0	CMKLR1	107209932	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.857000	0.99534	2.494000	0.84150	0.550000	0.68814	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	protein_coding	OTTHUMT00000404867.1	G		-		108685802	-1	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108685802	G	A	108685802	3	1	205	1	0	0	0	0	1	0	0	0	3581	1232	43	2	187	2	CMKLR1	12	108685802	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1	108685802	25166093	296	16817	482	2									
TMEM119	338773	genome.wustl.edu	37	chr12	108985691	108985691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcctgctgtcgggggCtctgtcggggacctcactga	16	13	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:108985691C>T	ENST00000392806.3	-	2	637	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	157					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CTGTCGGGGGCTCTGTCGGGG	0.682																																																	0								ENSG00000183160						14	19	17					12																	108985691		2182	4274	6456	TMEM119	SO:0001583	missense	0			-	HGNC	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.469G>A	12.37:g.108985691C>T	ENSP00000376553:p.Ala157Thr	Somatic	0	71	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	93	15.45	Q6UXE5|Q8N2F5	Missense_Mutation	SNP							NULL	p.A157T	ENST00000392806.3	37	c.469	CCDS9119.1	12	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914320	0.33815	.	.	ENSG00000183160	ENST00000392806;ENST00000433191	T	0.50813	0.73	4.53	3.56	0.40772	.	0.248895	0.40469	N	0.001086	T	0.45236	0.1332	L	0.53249	1.67	0.31606	N	0.65212	P	0.40431	0.717	B	0.41271	0.352	T	0.57556	-0.7791	10	0.40728	T	0.16	-8.9073	13.8515	0.63499	0.0:0.728:0.272:0.0	.	157	Q4V9L6	TM119_HUMAN	T	157;91	ENSP00000376553:A157T	ENSP00000376553:A157T	A	-	1	0	TMEM119	107509820	0.489000	0.26004	0.443000	0.26883	0.621000	0.37620	1.126000	0.31344	2.257000	0.74773	0.407000	0.27541	GCC	-	NULL		0.682	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM119	protein_coding	OTTHUMT00000403900.1	C	NM_181724	-		108985691	-1	no_errors	ENST00000392806	ensembl	human	known	74_37	missense	SNP	0.911	T	T	108985691	C	T	108985691	3	4	205	1	0	0	0	0	1	0	0	0	16039	797	28	2	386	2	TMEM119	12	108985691	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	299889	108985691	24866204	297	16818											
HVCN1	84329	genome.wustl.edu	37	chr12	111087228	111087228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtctagttcacttcaCcaagaagtccatgctgtcgc	9	13	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:111087228C>T	ENST00000356742.5	-	7	1562	c.809G>A	c.(808-810)gGt>gAt	p.G270D	TCTN1_ENST00000551590.1_3'UTR|HVCN1_ENST00000439744.2_Missense_Mutation_p.G250D|HVCN1_ENST00000548312.1_Intron|HVCN1_ENST00000242607.8_Missense_Mutation_p.G270D			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	270					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTTCACTTCACCAAGAAGTCC	0.493																																																	0								ENSG00000122986						88	69	76					12																	111087228		2203	4300	6503	HVCN1	SO:0001583	missense	0			-	HGNC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.809G>A	12.37:g.111087228C>T	ENSP00000349181:p.Gly270Asp	Somatic	0	91	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	83	14.43	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.G270D	ENST00000356742.5	37	c.809	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484772	0.26598	.	.	ENSG00000122986	ENST00000242607;ENST00000356742;ENST00000439744	T;T;T	0.45668	0.89;0.89;0.93	5.76	3.68	0.42216	.	0.547448	0.21181	N	0.078803	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.18561	0.022	T	0.11842	-1.0571	10	0.36615	T	0.2	-11.4303	8.4508	0.32869	0.0:0.77:0.0:0.23	.	270	Q96D96	HVCN1_HUMAN	D	270;270;250	ENSP00000242607:G270D;ENSP00000349181:G270D;ENSP00000412052:G250D	ENSP00000242607:G270D	G	-	2	0	HVCN1	109571611	0.000000	0.05858	0.029000	0.17559	0.494000	0.33585	0.364000	0.20325	1.412000	0.46977	0.561000	0.74099	GGT	-	NULL		0.493	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	protein_coding	OTTHUMT00000404653.1	C	NM_032369	-		111087228	-1	no_errors	ENST00000242607	ensembl	human	known	74_37	missense	SNP	0.002	T	T	111087228	C	T	111087228	3	4	205	1	0	0	0	0	1	0	0	0	7464	507	18	2	16	2	HVCN1	12	111087228	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2101537	111087228	22764667	298	16819											
PTPN11	5781	genome.wustl.edu	37	chr12	112888139	112888139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagaaatggagctgtcaCccacatcaagattcagaaca	8	9	3	4	rs397507503		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:112888139C>T	ENST00000351677.2	+	3	353	c.155C>T	c.(154-156)aCc>aTc	p.T52I	PTPN11_ENST00000392597.1_Missense_Mutation_p.T52I	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	52	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.T52S(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						GGAGCTGTCACCCACATCAAG	0.433			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)						ENSG00000179295						121	115	117					12																	112888139		2203	4300	6503	PTPN11	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	-	HGNC	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.155C>T	12.37:g.112888139C>T	ENSP00000340944:p.Thr52Ile	Somatic	0	31	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	A8K1D9|Q96HD7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.T52I	ENST00000351677.2	37	c.155	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949981	0.92660	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.88896	-2.44;-2.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.962	D	0.93416	0.6773	10	0.87932	D	0	.	19.6978	0.96034	0.0:1.0:0.0:0.0	.	52;52	Q06124-2;Q06124-3	.;.	I	52	ENSP00000376376:T52I;ENSP00000340944:T52I	ENSP00000340944:T52I	T	+	2	0	PTPN11	111372522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.481000	0.81124	2.649000	0.89929	0.650000	0.86243	ACC	-	pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2		0.433	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	C		-		112888139	1	no_errors	ENST00000351677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112888139	C	T	112888139	3	4	205	1	0	0	0	0	1	0	0	0	12786	507	18	2	165	2	PTPN11	12	112888139	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1800911	112888139	20963756	299	16820											
PTPN11	5781	genome.wustl.edu	37	chr12	112926909	112926909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtccagacagaagcacAgtaccgatttatctatatgg	10	8	1	2	rs121918470		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	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																															Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0			GRCh37	CM043070|CM052358	PTPN11	M	rs121918470	ENSG00000179295						182	170	174					12																	112926909		2203	4300	6503	PTPN11	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	-	HGNC	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	Somatic	0	36	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	A8K1D9|Q96HD7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	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	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.498	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	A		-		112926909	1	no_errors	ENST00000351677	ensembl	human	known	74_37	missense	SNP	1.000	T	T	112926909	A	T	112926909	3	4	205	1	0	0	0	0	1	0	0	0	12786	188	7	5	1579	5	PTPN11	12	112926909	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	38770	112926909	20924986	300	16821											
RNFT2	84900	genome.wustl.edu	37	chr12	117217132	117217132	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtggccctgcccaagatCatcctggctgtcaagtccaa	9	14	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:117217132C>T	ENST00000257575.4	+	7	1094	c.861C>T	c.(859-861)atC>atT	p.I287I	RNU6-558P_ENST00000364512.1_RNA|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.I287I|RNFT2_ENST00000392549.2_Silent_p.I287I			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	287						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TGCCCAAGATCATCCTGGCTG	0.547																																																	0								ENSG00000135119						121	95	104					12																	117217132		2203	4300	6503	RNFT2	SO:0001819	synonymous_variant	0			-	HGNC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.861C>T	12.37:g.117217132C>T		Somatic	0	59	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	70	22.22	E9PAM7|Q96SU5	Silent	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I287	ENST00000257575.4	37	c.861	CCDS44987.1	12																																																																																			-	NULL		0.547	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	protein_coding	OTTHUMT00000320417.1	C	NM_032814	-		117217132	1	no_errors	ENST00000257575	ensembl	human	known	74_37	silent	SNP	1.000	T	T	117217132	C	T	117217132	2	4	205	1	0	0	0	0	0	0	0	1	13510	816	29	2		2	RNFT2	12	117217132	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	4290223	117217132	16634763	301	16822											
C12orf43	64897	genome.wustl.edu	37	chr12	121442845	121442845	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctttcggcggggttggggaGactcttccttctcacggcct	14	12	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:121442845G>A	ENST00000288757.3	-	5	435	c.413C>T	c.(412-414)tCt>tTt	p.S138F	C12orf43_ENST00000537817.1_Missense_Mutation_p.S139F|C12orf43_ENST00000539736.1_Missense_Mutation_p.S127F|C12orf43_ENST00000366211.2_Missense_Mutation_p.S96F|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000445832.3_Missense_Mutation_p.S108F	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	138										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGTTGGGGAGACTCTTCCTT	0.512																																																	0								ENSG00000157895						59	62	61					12																	121442845		2199	4295	6494	C12orf43	SO:0001583	missense	0			-	HGNC	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.413C>T	12.37:g.121442845G>A	ENSP00000288757:p.Ser138Phe	Somatic	0	147	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	132	19.51	Q53HF0|Q9H9Z7	Missense_Mutation	SNP							NULL	p.S138F	ENST00000288757.3	37	c.413	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.342549|2.342549	0.41498|0.41498	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000546272|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	.|T;T;T;T;T	.|0.54675	.|0.58;0.56;0.57;0.68;0.61	5.86|5.86	4.03|4.03	0.46877|0.46877	.|.	.|0.765941	.|0.12831	.|N	.|0.435652	T|T	0.58308|0.58308	0.2113|0.2113	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|D;D;P;D;P	.|0.53151	.|0.958;0.958;0.919;0.958;0.919	.|P;P;P;P;B	.|0.54312	.|0.748;0.66;0.507;0.748;0.329	T|T	0.46638|0.46638	-0.9177|-0.9177	5|10	.|0.49607	.|T	.|0.09	2.4198|2.4198	9.6629|9.6629	0.39965|0.39965	0.0:0.1529:0.6882:0.159|0.0:0.1529:0.6882:0.159	.|.	.|127;96;139;127;138	.|G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;.;CL043_HUMAN	F|F	91|108;138;139;96;127;75;92	.|ENSP00000409788:S108F;ENSP00000288757:S138F;ENSP00000442224:S139F;ENSP00000437803:S127F;ENSP00000442041:S75F	.|ENSP00000288757:S138F	L|S	-|-	1|2	0|0	C12orf43|C12orf43	119927228|119927228	0.007000|0.007000	0.16637|0.16637	0.003000|0.003000	0.11579|0.11579	0.052000|0.052000	0.14988|0.14988	1.538000|1.538000	0.36094|0.36094	0.921000|0.921000	0.36994|0.36994	0.650000|0.650000	0.86243|0.86243	CTC|TCT	-	NULL		0.512	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	protein_coding		G	NM_022895	-		121442845	-1	no_errors	ENST00000288757	ensembl	human	known	74_37	missense	SNP	0.031	A	A	121442845	G	A	121442845	3	1	205	1	0	0	0	0	1	0	0	0	1691	942	33	2	383	2	C12orf43	12	121442845	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4225713	121442845	12409050	302	16823											
DNAH10	196385	genome.wustl.edu	37	chr12	124343772	124343772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggcccaccagagggGgcaagtccgtcgtcattaac	15	11	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:124343772G>A	ENST00000409039.3	+	37	6377	c.6352G>A	c.(6352-6354)Ggc>Agc	p.G2118S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2118	AAA 2. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACCAGAGGGGGCAAGTCCGT	0.567																																																	0								ENSG00000197653						35	37	37					12																	124343772		1901	4115	6016	DNAH10	SO:0001583	missense	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6352G>A	12.37:g.124343772G>A	ENSP00000386770:p.Gly2118Ser	Somatic	0	52	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.15	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.G2118S	ENST00000409039.3	37	c.6352	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708491	0.89018	.	.	ENSG00000197653	ENST00000409039	D	0.92048	-2.96	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	U	0.000006	D	0.97636	0.9225	H	0.96996	3.92	0.80722	D	1	D	0.64830	0.994	D	0.73708	0.981	D	0.98660	1.0683	10	0.72032	D	0.01	.	19.2736	0.94021	0.0:0.0:1.0:0.0	.	2118	Q8IVF4	DYH10_HUMAN	S	2118	ENSP00000386770:G2118S	ENSP00000386770:G2118S	G	+	1	0	DNAH10	122909725	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	9.764000	0.98949	2.546000	0.85860	0.563000	0.77884	GGC	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	G		-		124343772	1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124343772	G	A	124343772	3	1	205	1	0	0	0	0	1	0	0	0	4600	1232	43	2	6498	2	DNAH10	12	124343772	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2900927	124343772	9508123	303	16824											
DNAH10	196385	genome.wustl.edu	37	chr12	124363844	124363844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagatggtgagagtctgGaggaatgagtgtctgagagt	17	5	2	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:124363844G>A	ENST00000409039.3	+	48	8077	c.8052G>A	c.(8050-8052)tgG>tgA	p.W2684*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2684					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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGAGTCTGGAGGAATGAGT	0.512																																																	0								ENSG00000197653						46	46	46					12																	124363844		1968	4165	6133	DNAH10	SO:0001587	stop_gained	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8052G>A	12.37:g.124363844G>A	ENSP00000386770:p.Trp2684*	Somatic	0	25	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.22	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.W2684*	ENST00000409039.3	37	c.8052	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	50	16.335834	0.99861	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2617	0.98447	0.0:0.0:1.0:0.0	.	.	.	.	X	2684	.	ENSP00000386770:W2684X	W	+	3	0	DNAH10	122929797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	TGG	-	superfamily_P-loop_NTPase		0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	G		-		124363844	1	no_errors	ENST00000409039	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	124363844	G	A	124363844	4	1	205	1	0	0	0	0	0	1	0	0	4600	1183	41	2	8242	2	DNAH10	12	124363844	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	20072	124363844	9488051	304	16825											
ULK1	8408	genome.wustl.edu	37	chr12	132402037	132402037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttccccggtggtcttcaCcgtgggctctcccccgagcg	11	19	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr12:132402037C>T	ENST00000321867.4	+	22	2615	c.2264C>T	c.(2263-2265)aCc>aTc	p.T755I	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	755					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTGGTCTTCACCGTGGGCTCT	0.697																																																	0								ENSG00000177169						10	14	12					12																	132402037		2162	4270	6432	ULK1	SO:0001583	missense	0			-	HGNC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2264C>T	12.37:g.132402037C>T	ENSP00000324560:p.Thr755Ile	Somatic	0	74	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	86	12.24	Q9UQ28	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T755I	ENST00000321867.4	37	c.2264	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	c	20.6	4.014811	0.75161	.	.	ENSG00000177169	ENST00000321867;ENST00000541761	T;T	0.56941	0.43;0.43	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77635	-0.2514	10	0.59425	D	0.04	-47.7772	17.8905	0.88870	0.0:1.0:0.0:0.0	.	755	O75385	ULK1_HUMAN	I	755;103	ENSP00000324560:T755I;ENSP00000444298:T103I	ENSP00000324560:T755I	T	+	2	0	ULK1	130967990	1.000000	0.71417	0.703000	0.30354	0.432000	0.31715	7.308000	0.78929	2.277000	0.76020	0.424000	0.28305	ACC	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.697	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	protein_coding	OTTHUMT00000397769.3	C		-		132402037	1	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132402037	C	T	132402037	3	4	205	1	0	0	0	0	1	0	0	0	16982	507	18	2	2350	2	ULK1	12	132402037	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	8038193	132402037	1449858	305	16826											
RASL11A	387496	genome.wustl.edu	37	chr13	27847334	27847334	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctaaagcccctgtcatcatCgtgggcaacaagggggacct	11	12	3	0	rs149565737		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr13:27847334C>T	ENST00000241463.4	+	4	1050	c.432C>T	c.(430-432)atC>atT	p.I144I	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CTGTCATCATCGTGGGCAACA	0.532													C|||	1	0.000199681	0	0	5008	,	,		18223	0		0.001	False		,,,				2504	0																0								ENSG00000122035						92	74	80					13																	27847334		2203	4300	6503	RASL11A	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.432C>T	13.37:g.27847334C>T		Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00		Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I144	ENST00000241463.4	37	c.432	CCDS9321.1	13																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.532	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11A	protein_coding	OTTHUMT00000044265.2	C	NM_206827	rs149565737		27847334	1	no_errors	ENST00000241463	ensembl	human	known	74_37	silent	SNP	0.943	T	T	27847334	C	T	27847334	2	4	205	1	0	0	0	0	0	0	0	1	13089	874	31	1		1	RASL11A	13	27847334	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		27847334	87322544	306	16827											
KL	9365	genome.wustl.edu	37	chr13	33628363	33628363	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagggaccaccaagagagatGatgccaaatatatgtattac	9	8	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr13:33628363G>A	ENST00000380099.3	+	2	1287	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N	KL_ENST00000426690.2_Missense_Mutation_p.D120N|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	427	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAAGAGAGATGATGCCAAATA	0.383																																																	0								ENSG00000133116						100	106	104					13																	33628363		2201	4300	6501	KL	SO:0001583	missense	0			-	HGNC	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1279G>A	13.37:g.33628363G>A	ENSP00000369442:p.Asp427Asn	Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP							pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.D427N	ENST00000380099.3	37	c.1279	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.383349	0.95967	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.62498	0.08;0.02	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;0.969	D;P	0.87578	0.998;0.795	D	0.92150	0.5727	10	0.87932	D	0	-28.9902	20.2822	0.98520	0.0:0.0:1.0:0.0	.	427;120	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	N	120;427	ENSP00000399513:D120N;ENSP00000369442:D427N	ENSP00000369442:D427N	D	+	1	0	KL	32526363	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.574000	0.98184	2.806000	0.96561	0.655000	0.94253	GAT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.383	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	protein_coding	OTTHUMT00000045987.1	G		-		33628363	1	no_errors	ENST00000380099	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33628363	G	A	33628363	3	1	205	1	0	0	0	0	1	0	0	0	8333	1290	45	2	1285	2	KL	13	33628363	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	5781029	33628363	81541515	307	16828											
KCNRG	283518	genome.wustl.edu	37	chr13	50594376	50594376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctataaaacctgataaccGaaaattggccaacggaacaa	6	9	1	1	rs369440174		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr13:50594376G>A	ENST00000312942.1	+	2	845	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	202					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCTGATAACCGAAAATTGGCC	0.348													G|||	1	0.000199681	8e-04	0	5008	,	,		16433	0		0	False		,,,				2504	0																0								ENSG00000198553	G	GLN/ARG,	2,4404	4.2+/-10.8	0,2,2201	70	69	69		605,	4.6	1	13		69	0,8600		0,0,4300	no	missense,utr-3	KCNRG	NM_173605.1,NM_199464.1	43,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,	202/273,	50594376	2,13004	2203	4300	6503	KCNRG	SO:0001583	missense	0			-	HGNC		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.605G>A	13.37:g.50594376G>A	ENSP00000324191:p.Arg202Gln	Somatic	0	66	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	57	34.83	A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP							pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R202Q	ENST00000312942.1	37	c.605	CCDS9424.1	13	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586965	0.66105	4.54E-4	0.0	ENSG00000198553	ENST00000312942	T	0.64803	-0.12	5.49	4.64	0.57946	.	0.099608	0.41500	N	0.000869	T	0.46229	0.1382	L	0.34521	1.04	0.31333	N	0.684538	P	0.40360	0.714	B	0.25140	0.058	T	0.59386	-0.7464	10	0.87932	D	0	.	14.0751	0.64885	0.0723:0.0:0.9277:0.0	.	202	Q8N5I3	KCNRG_HUMAN	Q	202	ENSP00000324191:R202Q	ENSP00000324191:R202Q	R	+	2	0	KCNRG	49492377	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	2.981000	0.49329	1.335000	0.45486	0.557000	0.71058	CGA	-	NULL		0.348	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNRG	protein_coding	OTTHUMT00000276308.1	G		-		50594376	1	no_errors	ENST00000312942	ensembl	human	known	74_37	missense	SNP	0.988	A	A	50594376	G	A	50594376	3	1	205	1	0	0	0	0	1	0	0	0	8089	1058	37	1	713	1	KCNRG	13	50594376	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	16966013	50594376	64575502	308	16829											
OXGR1	27199	genome.wustl.edu	37	chr13	97639515	97639515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgatcaagaaggtcatcgGaatgacagctaccagtgaaa	11	7	2	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr13:97639515G>A	ENST00000298440.1	-	4	742	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	OXGR1_ENST00000543457.1_Missense_Mutation_p.P167S	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAGGTCATCGGAATGACAGCT	0.458																																																	0								ENSG00000165621						138	102	114					13																	97639515		2203	4300	6503	OXGR1	SO:0001583	missense	0			-	HGNC	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.499C>T	13.37:g.97639515G>A	ENSP00000298440:p.Pro167Ser	Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	Q5T5A7|Q86TL1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P167S	ENST00000298440.1	37	c.499	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312001	0.81358	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.50001	0.76;0.76	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.78456	2.415	0.52099	D	0.999949	D	0.89917	1.0	D	0.97110	1.0	T	0.72581	-0.4250	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	167	Q96P68	OXGR1_HUMAN	S	167	ENSP00000298440:P167S;ENSP00000438800:P167S	ENSP00000298440:P167S	P	-	1	0	OXGR1	96437516	1.000000	0.71417	0.989000	0.46669	0.899000	0.52679	5.499000	0.66937	2.941000	0.99782	0.655000	0.94253	CCG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	protein_coding	OTTHUMT00000045521.3	G	NM_080818	-		97639515	-1	no_errors	ENST00000298440	ensembl	human	known	74_37	missense	SNP	1.000	A	A	97639515	G	A	97639515	3	1	205	1	0	0	0	0	1	0	0	0	11334	1174	41	2	518	2	OXGR1	13	97639515	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	47045139	97639515	17530363	309	16830											
OR4K13	390433	genome.wustl.edu	37	chr14	20502851	20502851	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagaagaataaaatctgaaGattttgagatttggaaagtc	9	3	1	5	rs372530966		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:20502851G>A	ENST00000315693.2	-	1	68	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAATCTGAAGATTTTGAGAT	0.388																																																	0								ENSG00000176253						55	57	56					14																	20502851		2202	4299	6501	OR4K13	SO:0001583	missense	0			-	HGNC		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.67C>T	14.37:g.20502851G>A	ENSP00000319322:p.Leu23Phe	Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	Q6IF13	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23F	ENST00000315693.2	37	c.67	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	9.369	1.070109	0.20147	.	.	ENSG00000176253	ENST00000315693	T	0.03330	3.97	3.51	1.49	0.22878	.	0.568981	0.13357	U	0.393943	T	0.05868	0.0153	L	0.60067	1.865	0.09310	N	1	B	0.26672	0.156	B	0.30105	0.111	T	0.26467	-1.0102	10	0.66056	D	0.02	.	9.804	0.40781	0.0:0.0:0.4642:0.5358	.	23	Q8NH42	OR4KD_HUMAN	F	23	ENSP00000319322:L23F	ENSP00000319322:L23F	L	-	1	0	OR4K13	19572691	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.268000	0.08607	0.132000	0.18615	0.536000	0.68110	CTT	-	NULL		0.388	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	protein_coding	OTTHUMT00000410344.1	G		-		20502851	-1	no_errors	ENST00000315693	ensembl	human	known	74_37	missense	SNP	0.001	A	A	20502851	G	A	20502851	3	1	205	1	0	0	0	0	1	0	0	0	11070	942	33	2	849	2	OR4K13	14	20502851	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		20502851	86846689	310	16831											
OSGEP	55644	genome.wustl.edu	37	chr14	20915590	20915590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcactcacctctgtgtaAccccagaatcactgagtggg	9	12	4	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:20915590A>G	ENST00000206542.4	-	10	1380	c.959T>C	c.(958-960)gTt>gCt	p.V320A	OSGEP_ENST00000555656.1_Missense_Mutation_p.V121A|OSGEP_ENST00000554249.1_Missense_Mutation_p.V138A	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CCTCTGTGTAACCCCAGAATC	0.502																																																	0								ENSG00000092094						63	58	60					14																	20915590		2203	4300	6503	OSGEP	SO:0001583	missense	0			-	HGNC	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.959T>C	14.37:g.20915590A>G	ENSP00000206542:p.Val320Ala	Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.59		Missense_Mutation	SNP							pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD	p.V320A	ENST00000206542.4	37	c.959	CCDS9549.1	14	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446495	0.63178	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249	T	0.48201	0.82	5.23	5.23	0.72850	.	0.267028	0.41396	D	0.000894	T	0.51261	0.1664	M	0.76328	2.33	0.33957	D	0.645162	B	0.11235	0.004	B	0.22601	0.04	T	0.62992	-0.6736	10	0.59425	D	0.04	-1.7066	14.0954	0.65019	1.0:0.0:0.0:0.0	.	320	Q9NPF4	OSGEP_HUMAN	A	121;320;138	ENSP00000206542:V320A	ENSP00000206542:V320A	V	-	2	0	OSGEP	19985430	1.000000	0.71417	0.776000	0.31678	0.977000	0.68977	8.600000	0.90860	1.973000	0.57446	0.455000	0.32223	GTT	-	NULL		0.502	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEP	protein_coding	OTTHUMT00000073635.3	A	NM_017807	-		20915590	-1	no_errors	ENST00000206542	ensembl	human	known	74_37	missense	SNP	1.000	G	G	20915590	A	G	20915590	3	3	205	1	0	0	0	0	1	0	0	0	11289	43	2	5	56	5	OSGEP	14	20915590	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	412739	20915590	86433950	311	16832											
HAUS4	54930	genome.wustl.edu	37	chr14	23421835	23421835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcttgctgaagtatGggttctgtaacaggtcctct	13	7	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:23421835G>A	ENST00000206474.7	-	3	365	c.113C>T	c.(112-114)cCa>cTa	p.P38L	HAUS4_ENST00000555367.1_Missense_Mutation_p.P38L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.P38L|HAUS4_ENST00000490506.1_Intron|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000397409.4_Missense_Mutation_p.P38L|HAUS4_ENST00000347758.2_Missense_Mutation_p.P38L|HAUS4_ENST00000555986.1_Missense_Mutation_p.P38L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.P38L|HAUS4_ENST00000554446.1_5'UTR			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	38					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCTGAAGTATGGGTTCTGTAA	0.468																																																	0								ENSG00000092036						101	97	99					14																	23421835		2203	4300	6503	HAUS4	SO:0001583	missense	0			-	HGNC	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.113C>T	14.37:g.23421835G>A	ENSP00000206474:p.Pro38Leu	Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP							NULL	p.P38L	ENST00000206474.7	37	c.113	CCDS9580.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556879|4.556879	0.86231|0.86231	.|.	.|.	ENSG00000092036|ENSG00000092036	ENST00000553420|ENST00000206474;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000556915;ENST00000554516;ENST00000557591	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.61703|0.61703	1.905|1.905	0.36633|0.36633	D|D	0.876438|0.876438	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	T|T	0.82016|0.82016	-0.0666|-0.0666	5|9	.|0.87932	.|D	.|0	-13.4203|-13.4203	16.8031|16.8031	0.85619|0.85619	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|38;38;38	.|Q9H6D7-4;Q9H6D7-2;Q9H6D7	.|.;.;HAUS4_HUMAN	Y|L	20|38	.|.	.|ENSP00000206474:P38L	H|P	-|-	1|2	0|0	HAUS4|HAUS4	22491675|22491675	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.996000|0.996000	0.88848|0.88848	6.059000|6.059000	0.71133|0.71133	2.706000|2.706000	0.92434|0.92434	0.561000|0.561000	0.74099|0.74099	CAT|CCA	-	NULL		0.468	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	protein_coding	OTTHUMT00000071680.3	G		-		23421835	-1	no_errors	ENST00000206474	ensembl	human	known	74_37	missense	SNP	0.991	A	A	23421835	G	A	23421835	3	1	205	1	0	0	0	0	1	0	0	0	6970	1348	47	2	1010	2	HAUS4	14	23421835	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2506245	23421835	83927705	312	16833											
MYH7	4625	genome.wustl.edu	37	chr14	23899003	23899003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagtgccgtctggctcCgcctgctcctcccgctgctt	9	19	2	0	rs572672362		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:23899003C>T	ENST00000355349.3	-	12	1281	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	373	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)	p.A373A(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGTCTGGCTCCGCCTGCTCCT	0.532													c|||	1	0.000199681	8e-04	0	5008	,	,		18578	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	endometrium(1)						ENSG00000092054						80	75	77					14																	23899003		2203	4300	6503	MYH7	SO:0001819	synonymous_variant	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1119G>A	14.37:g.23899003C>T		Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	60	22.08	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A373	ENST00000355349.3	37	c.1119	CCDS9601.1	14																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	C	NM_000257	-		23899003	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	SNP	0.106	T	T	23899003	C	T	23899003	2	4	205	1	0	0	0	0	0	0	0	1	10041	639	23	1		1	MYH7	14	23899003	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	477168	23899003	83450537	313	16834											
PRKCH	5583	genome.wustl.edu	37	chr14	61997257	61997257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctttgaggccatactgaatGatgaggtggtctaccctacc	10	10	2	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:61997257G>A	ENST00000332981.5	+	12	2090	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.M73I|PRKCH_ENST00000555082.1_Missense_Mutation_p.D408N	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CATACTGAATGATGAGGTGGT	0.498																																					Melanoma(135;863 1779 8064 14443 26348)												0								ENSG00000027075						195	155	169					14																	61997257		2203	4300	6503	PRKCH	SO:0001583	missense	0			-	HGNC	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1705G>A	14.37:g.61997257G>A	ENSP00000329127:p.Asp569Asn	Somatic	0	83	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	107	13.71	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.D569N	ENST00000332981.5	37	c.1705	CCDS9752.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.493615|5.493615	0.96339|0.96339	.|.	.|.	ENSG00000027075|ENSG00000258989	ENST00000555185;ENST00000332981;ENST00000555082|ENST00000556347	T;T;T|.	0.64991|.	-0.13;0.63;0.63|.	5.64|5.64	5.64|5.64	0.86602|0.86602	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|.	0.64402|.	D|.	0.000006|.	T|T	0.54822|0.54822	0.1882|0.1882	N|N	0.17872|0.17872	0.535|0.535	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	D|.	0.65874|.	0.939|.	T|T	0.48115|0.48115	-0.9063|-0.9063	10|5	0.56958|.	D|.	0.05|.	.|.	19.7167|19.7167	0.96124|0.96124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	569|.	P24723|.	KPCL_HUMAN|.	N|I	137;569;408|73	ENSP00000451871:D137N;ENSP00000329127:D569N;ENSP00000450981:D408N|.	ENSP00000329127:D569N|.	D|M	+|+	1|3	0|0	PRKCH|RP11-47I22.4	61067010|61067010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	9.796000|9.796000	0.99103|0.99103	2.667000|2.667000	0.90743|0.90743	0.655000|0.655000	0.94253|0.94253	GAT|ATG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom		0.498	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	protein_coding	OTTHUMT00000276974.2	G	NM_006255	-		61997257	1	no_errors	ENST00000332981	ensembl	human	known	74_37	missense	SNP	1.000	A	A	61997257	G	A	61997257	3	1	205	1	0	0	0	0	1	0	0	0	12518	1290	45	2	1751	2	PRKCH	14	61997257	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	38098254	61997257	45352283	314	16835											
DCAF5	8816	genome.wustl.edu	37	chr14	69521402	69521402	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggagatataagagtagcgGagccacttgtaagctttata	11	5	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:69521402G>A	ENST00000341516.5	-	9	2148	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	DCAF5_ENST00000557386.1_Silent_p.L666L|DCAF5_ENST00000554215.1_Silent_p.L585L|DCAF5_ENST00000556847.1_Silent_p.L585L|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	667					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGAGTAGCGGAGCCACTTGT	0.478																																																	0								ENSG00000139990						66	73	71					14																	69521402		2203	4300	6503	DCAF5	SO:0001819	synonymous_variant	0			-	HGNC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2001C>T	14.37:g.69521402G>A		Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	84	16.00	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L667	ENST00000341516.5	37	c.2001	CCDS32106.1	14																																																																																			-	NULL		0.478	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	protein_coding	OTTHUMT00000414806.2	G	NM_003861	-		69521402	-1	no_errors	ENST00000341516	ensembl	human	known	74_37	silent	SNP	0.964	A	A	69521402	G	A	69521402	2	1	205	1	0	0	0	0	0	0	0	1	4275	1161	41	2		2	DCAF5	14	69521402	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7524145	69521402	37828138	315	16836											
DCAF4	26094	genome.wustl.edu	37	chr14	73409712	73409712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttctgcagtttagcccacGagctgcgtctcagctgcatg	11	12	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:73409712G>A	ENST00000358377.2	+	6	662	c.442G>A	c.(442-444)Gag>Aag	p.E148K	DCAF4_ENST00000553457.1_Missense_Mutation_p.E48K|DCAF4_ENST00000394234.2_Missense_Mutation_p.E48K|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Missense_Mutation_p.E148K	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	148					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TTTAGCCCACGAGCTGCGTCT	0.567																																																	0								ENSG00000119599						88	76	80					14																	73409712		2203	4300	6503	DCAF4	SO:0001583	missense	0			-	HGNC	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.442G>A	14.37:g.73409712G>A	ENSP00000351147:p.Glu148Lys	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E148K	ENST00000358377.2	37	c.442	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.307846	0.95629	.	.	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000555042;ENST00000553457	T;T;T;T	0.70399	-0.05;-0.42;-0.48;0.68	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.74881	2.28	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.96	D	0.85161	0.0992	10	0.72032	D	0.01	.	16.7076	0.85376	0.0:0.0:1.0:0.0	.	126;148;148;148	B4DN30;Q8WV16-2;G3V522;Q8WV16	.;.;.;DCAF4_HUMAN	K	148;48;148;48	ENSP00000351147:E148K;ENSP00000377781:E48K;ENSP00000452131:E148K;ENSP00000451186:E48K	ENSP00000351147:E148K	E	+	1	0	DCAF4	72479465	1.000000	0.71417	0.980000	0.43619	0.909000	0.53808	7.113000	0.77095	2.722000	0.93159	0.555000	0.69702	GAG	-	NULL		0.567	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	protein_coding	OTTHUMT00000361058.1	G	NM_015604	-		73409712	1	no_errors	ENST00000358377	ensembl	human	known	74_37	missense	SNP	0.999	A	A	73409712	G	A	73409712	3	1	205	1	0	0	0	0	1	0	0	0	4272	1059	37	1	460	1	DCAF4	14	73409712	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3888310	73409712	33939828	316	16837											
YLPM1	56252	genome.wustl.edu	37	chr14	75266069	75266069	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggagagaagaaagaaatCgagagcatgggtatgatcga	15	3	0	5			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:75266069C>T	ENST00000325680.7	+	5	4193	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1162					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R1357*(1)|p.R1162*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGAAATCGAGAGCATGG	0.473																																																	2	Substitution - Nonsense(2)	large_intestine(2)						ENSG00000119596						170	160	163					14																	75266069		1882	4122	6004	YLPM1	SO:0001587	stop_gained	0			-	HGNC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4069C>T	14.37:g.75266069C>T	ENSP00000324463:p.Arg1357*	Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP							superfamily_P-loop_NTPase	p.R1357*	ENST00000325680.7	37	c.4069	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.382028	0.97520	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.01	0.66863	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5401	13.708	0.62651	0.2119:0.7881:0.0:0.0	.	.	.	.	X	1357;1162;1070	.	ENSP00000238571:R1162X	R	+	1	2	YLPM1	74335822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	2.855000	0.98099	0.537000	0.68136	CGA	-	NULL		0.473	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	protein_coding	OTTHUMT00000404451.1	C	NM_019589	-		75266069	1	no_errors	ENST00000325680	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	75266069	C	T	75266069	4	4	205	1	0	0	0	0	0	1	0	0	17493	876	31	1	4087	1	YLPM1	14	75266069	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1856357	75266069	32083471	317	16838											
EML5	161436	genome.wustl.edu	37	chr14	89202819	89202819	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taattagaaaaggtttatttCtttcttgcaccacaatttca	4	7	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:89202819C>T	ENST00000380664.5	-	7	937	c.938G>A	c.(937-939)aGa>aAa	p.R313K	EML5_ENST00000352093.5_Missense_Mutation_p.R313K|EML5_ENST00000554922.1_Missense_Mutation_p.R313K			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	313						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGGTTTATTTCTTTCTTGCAC	0.408																																																	0								ENSG00000165521						171	169	169					14																	89202819		1901	4108	6009	EML5	SO:0001583	missense	0			-	HGNC	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.938G>A	14.37:g.89202819C>T	ENSP00000370039:p.Arg313Lys	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R313K	ENST00000380664.5	37	c.938	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814590	0.50527	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01246	5.12;5.12;5.11	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.120532	0.56097	D	0.000025	T	0.02156	0.0067	L	0.50333	1.59	0.54753	D	0.999986	B	0.19200	0.034	B	0.24006	0.05	T	0.46261	-0.9204	10	0.05620	T	0.96	-27.4633	18.8169	0.92079	0.0:1.0:0.0:0.0	.	313	Q05BV3	EMAL5_HUMAN	K	313	ENSP00000451998:R313K;ENSP00000298315:R313K;ENSP00000370039:R313K	ENSP00000298315:R313K	R	-	2	0	EML5	88272572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.682000	0.91365	0.655000	0.94253	AGA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.408	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	protein_coding	OTTHUMT00000410491.1	C		-		89202819	-1	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89202819	C	T	89202819	3	4	205	1	0	0	0	0	1	0	0	0	5102	913	32	2	5143	2	EML5	14	89202819	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	13936750	89202819	18146721	318	16839											
FBLN5	10516	genome.wustl.edu	37	chr14	92403475	92403475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccggggaatgcataaataCccgccattttggttaacaca	9	10	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:92403475C>T	ENST00000342058.4	-	4	788	c.195G>A	c.(193-195)ggG>ggA	p.G65G	FBLN5_ENST00000556154.1_Silent_p.G70G|FBLN5_ENST00000267620.10_Silent_p.G106G	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	65	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCATAAATACCCGCCATTTT	0.552																																																	0								ENSG00000140092						93	85	87					14																	92403475		2203	4300	6503	FBLN5	SO:0001819	synonymous_variant	0			-	HGNC	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.195G>A	14.37:g.92403475C>T		Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	77	13.48	O75966|Q6IAL4|Q6UWA3	Silent	SNP							pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.G65	ENST00000342058.4	37	c.195	CCDS9898.1	14																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom		0.552	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBLN5	protein_coding	OTTHUMT00000411787.1	C		-		92403475	-1	no_errors	ENST00000342058	ensembl	human	known	74_37	silent	SNP	0.978	T	T	92403475	C	T	92403475	2	4	205	1	0	0	0	0	0	0	0	1	5702	494	18	2		2	FBLN5	14	92403475	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3200656	92403475	14946065	319	16840											
ATG2B	55102	genome.wustl.edu	37	chr14	96768417	96768417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggacctgccagattctGgacacacgtgtaaggctttc	13	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:96768417G>A	ENST00000359933.4	-	34	5959	c.5066C>T	c.(5065-5067)cCa>cTa	p.P1689L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1689					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCCAGATTCTGGACACACGTG	0.453																																																	0								ENSG00000066739						81	71	75					14																	96768417		2203	4300	6503	ATG2B	SO:0001583	missense	0			-	HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5066C>T	14.37:g.96768417G>A	ENSP00000353010:p.Pro1689Leu	Somatic	0	67	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	68	18.07	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP							pfam_Autophagy-rel_C	p.P1689L	ENST00000359933.4	37	c.5066	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	35	5.439457	0.96168	.	.	ENSG00000066739	ENST00000359933	T	0.18810	2.19	5.75	5.75	0.90469	.	0.205916	0.52532	D	0.000073	T	0.55386	0.1917	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57619	-0.7780	10	0.54805	T	0.06	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	1689	Q96BY7	ATG2B_HUMAN	L	1689	ENSP00000353010:P1689L	ENSP00000261834:P333L	P	-	2	0	ATG2B	95838170	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	9.118000	0.94355	2.880000	0.98712	0.655000	0.94253	CCA	-	NULL		0.453	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	G	NM_018036	-		96768417	-1	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96768417	G	A	96768417	3	1	205	1	0	0	0	0	1	0	0	0	1094	1348	47	2	1206	2	ATG2B	14	96768417	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4364942	96768417	10581123	320	16841											
HHIPL1	84439	genome.wustl.edu	37	chr14	100118632	100118632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcgcacggtgcccggGctctgccaggattactgcct	12	17	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:100118632G>A	ENST00000330710.5	+	2	425	c.327G>A	c.(325-327)ggG>ggA	p.G109G	HHIPL1_ENST00000357223.2_Silent_p.G109G	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	109					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGGTGCCCGGGCTCTGCCAGG	0.617																																																	0								ENSG00000182218						65	65	65					14																	100118632		2203	4300	6503	HHIPL1	SO:0001819	synonymous_variant	0			-	HGNC	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.327G>A	14.37:g.100118632G>A		Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	A2RUF8|B2RN09|Q6UXX2	Silent	SNP							pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G109	ENST00000330710.5	37	c.327	CCDS45162.1	14																																																																																			-	pfam_Folate_rcpt-like		0.617	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	protein_coding	OTTHUMT00000413811.1	G	XM_041566	-		100118632	1	no_errors	ENST00000330710	ensembl	human	known	74_37	silent	SNP	0.984	A	A	100118632	G	A	100118632	2	1	205	1	0	0	0	0	0	0	0	1	7095	1190	42	2		2	HHIPL1	14	100118632	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3350215	100118632	7230908	321	16842											
HHIPL1	84439	genome.wustl.edu	37	chr14	100119155	100119155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagtggatccgcatcagcGagttcagagtctccgaggat	14	9	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:100119155G>A	ENST00000330710.5	+	2	948	c.850G>A	c.(850-852)Gag>Aag	p.E284K	HHIPL1_ENST00000357223.2_Missense_Mutation_p.E284K	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	284					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCGCATCAGCGAGTTCAGAGT	0.612																																																	0								ENSG00000182218						41	38	39					14																	100119155		2203	4300	6503	HHIPL1	SO:0001583	missense	0			-	HGNC	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.850G>A	14.37:g.100119155G>A	ENSP00000330601:p.Glu284Lys	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP							pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.E284K	ENST00000330710.5	37	c.850	CCDS45162.1	14	.	.	.	.	.	.	.	.	.	.	g	29.5	5.014100	0.93404	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.10763	2.84;2.84	4.61	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.062472	0.64402	D	0.000006	T	0.36608	0.0973	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.37150	-0.9718	10	0.87932	D	0	.	17.4611	0.87620	0.0:0.0:1.0:0.0	.	284;284	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	K	284	ENSP00000330601:E284K;ENSP00000349757:E284K	ENSP00000330601:E284K	E	+	1	0	HHIPL1	99188908	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.017000	0.88712	2.106000	0.64143	0.563000	0.77884	GAG	-	superfamily_Quinoprot_gluc/sorb_DH		0.612	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	protein_coding	OTTHUMT00000413811.1	G	XM_041566	-		100119155	1	no_errors	ENST00000330710	ensembl	human	known	74_37	missense	SNP	1.000	A	A	100119155	G	A	100119155	3	1	205	1	0	0	0	0	1	0	0	0	7095	1059	37	1	856	1	HHIPL1	14	100119155	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	523	100119155	7230385	322	16843											
RTL1	388015	genome.wustl.edu	37	chr14	101350316	101350316	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcggacatggcctccagGaaggctgggaagtctccgat	13	11	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:101350316G>A	ENST00000534062.1	-	1	868	c.810C>T	c.(808-810)ttC>ttT	p.F270F	MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	270					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGCCTCCAGGAAGGCTGGGA	0.577																																																	0								ENSG00000254656						66	58	60					14																	101350316		692	1591	2283	RTL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.810C>T	14.37:g.101350316G>A		Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	E9PKS8	Silent	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.F270	ENST00000534062.1	37	c.810	CCDS53910.1	14																																																																																			-	pfam_Retrotrans_gag_dom		0.577	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	G	NM_001134888	-		101350316	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	silent	SNP	1.000	A	A	101350316	G	A	101350316	2	1	205	1	0	0	0	0	0	0	0	1	13732	1165	41	2		2	RTL1	14	101350316	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1231161	101350316	5999224	323	16844											
AMN	81693	genome.wustl.edu	37	chr14	103394780	103394780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctgccgctggatggGgaactcgtcctggcttcagg	14	13	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:103394780G>A	ENST00000299155.5	+	4	258	c.225G>A	c.(223-225)ggG>ggA	p.G75G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	75					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCTGGATGGGGAACTCGTCC	0.746																																																	0								ENSG00000166126						14	14	14					14																	103394780		2192	4287	6479	AMN	SO:0001819	synonymous_variant	0			-	HGNC	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.225G>A	14.37:g.103394780G>A		Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	53	14.29	Q6UX83	Silent	SNP							NULL	p.G75	ENST00000299155.5	37	c.225	CCDS9977.1	14																																																																																			-	NULL		0.746	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMN	protein_coding	OTTHUMT00000415704.1	G		-		103394780	1	no_errors	ENST00000299155	ensembl	human	known	74_37	silent	SNP	0.261	A	A	103394780	G	A	103394780	2	1	205	1	0	0	0	0	0	0	0	1	580	1219	43	2		2	AMN	14	103394780	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2044464	103394780	3954760	324	16845											
INF2	64423	genome.wustl.edu	37	chr14	105180850	105180850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcccctcaagttctcCagcaaccagccccctgcagc	7	19	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr14:105180850C>T	ENST00000392634.4	+	21	3463	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	INF2_ENST00000330634.7_Silent_p.S1117S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1117					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCAAGTTCTCCAGCAACCAGC	0.642																																																	0								ENSG00000203485						36	43	41					14																	105180850		2026	4178	6204	INF2	SO:0001819	synonymous_variant	0			-	HGNC	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3351C>T	14.37:g.105180850C>T		Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.S1117	ENST00000392634.4	37	c.3351	CCDS9989.2	14																																																																																			-	NULL		0.642	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	protein_coding	OTTHUMT00000074371.4	C	NM_022489	-		105180850	1	no_errors	ENST00000392634	ensembl	human	known	74_37	silent	SNP	0.000	T	T	105180850	C	T	105180850	2	4	205	1	0	0	0	0	0	0	0	1	7736	581	21	2		2	INF2	14	105180850	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1786070	105180850	2168690	325	16846											
BAHD1	22893	genome.wustl.edu	37	chr15	40754377	40754377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaaggctgcccgcaggCctagccaccccaagcagcca	12	17	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:40754377C>T	ENST00000416165.1	+	3	1770	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	BAHD1_ENST00000560846.1_Missense_Mutation_p.P567S|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.P566S	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	567	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGCCCGCAGGCCTAGCCACCC	0.677																																																	0								ENSG00000140320						46	49	48					15																	40754377		2200	4297	6497	BAHD1	SO:0001583	missense	0			-	HGNC	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1699C>T	15.37:g.40754377C>T	ENSP00000396976:p.Pro567Ser	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P567S	ENST00000416165.1	37	c.1699	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857696	0.32791	.	.	ENSG00000140320	ENST00000416165	T	0.17213	2.29	5.98	5.05	0.67936	.	0.204155	0.42821	D	0.000655	T	0.08802	0.0218	N	0.03608	-0.345	0.36819	D	0.886308	B;B;B	0.31548	0.328;0.22;0.328	B;B;B	0.34242	0.178;0.086;0.178	T	0.18085	-1.0348	10	0.07644	T	0.81	-9.2222	17.1988	0.86901	0.0:0.8738:0.1262:0.0	.	567;567;566	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	S	567	ENSP00000396976:P567S	ENSP00000396976:P567S	P	+	1	0	BAHD1	38541669	0.142000	0.22610	1.000000	0.80357	0.266000	0.26442	1.748000	0.38308	1.519000	0.48950	0.585000	0.79938	CCT	-	NULL		0.677	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	protein_coding	OTTHUMT00000252248.1	C	NM_014952	-		40754377	1	no_errors	ENST00000416165	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40754377	C	T	40754377	3	4	205	1	0	0	0	0	1	0	0	0	1297	739	26	2	1705	2	BAHD1	15	40754377	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		40754377	61777015	326	16847											
WDR72	256764	genome.wustl.edu	37	chr15	53994475	53994475	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccaactttggtctaatttCgaagagagaccatgtggata	9	7	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:53994475C>T	ENST00000396328.1	-	12	1664	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	WDR72_ENST00000360509.5_Silent_p.S475S|WDR72_ENST00000557913.1_Silent_p.S472S|WDR72_ENST00000559418.1_Silent_p.S485S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGTCTAATTTCGAAGAGAGAC	0.388																																																	0								ENSG00000166415						123	119	120					15																	53994475		2194	4293	6487	WDR72	SO:0001819	synonymous_variant	0			-	HGNC	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1425G>A	15.37:g.53994475C>T		Somatic	0	70	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.44	Q7Z3I3|Q8N8X2	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S475	ENST00000396328.1	37	c.1425	CCDS10151.1	15																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	protein_coding	OTTHUMT00000254893.2	C	NM_182758	-		53994475	-1	no_errors	ENST00000360509	ensembl	human	known	74_37	silent	SNP	0.786	T	T	53994475	C	T	53994475	2	4	205	1	0	0	0	0	0	0	0	1	17329	871	31	1		1	WDR72	15	53994475	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	13240098	53994475	48536917	327	16848											
TCF12	6938	genome.wustl.edu	37	chr15	57574769	57574769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttagtgaaactaccaaccCtatgggtcatatgtaaacat	7	9	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:57574769C>T	ENST00000267811.5	+	19	2337	c.2033C>T	c.(2032-2034)cCt>cTt	p.P678L	TCF12_ENST00000559703.1_Missense_Mutation_p.P335L|TCF12_ENST00000543579.1_Missense_Mutation_p.P532L|TCF12_ENST00000333725.5_Missense_Mutation_p.P702L|TCF12_ENST00000452095.2_Missense_Mutation_p.P698L|TCF12_ENST00000438423.2_Missense_Mutation_p.P702L|TCF12_ENST00000343827.3_Missense_Mutation_p.P508L|TCF12_ENST00000537840.1_Missense_Mutation_p.P442L|TCF12_ENST00000557843.1_Missense_Mutation_p.P678L|TCF12_ENST00000559710.1_Missense_Mutation_p.P312L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	678					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTACCAACCCTATGGGTCAT	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0								ENSG00000140262						131	131	131					15																	57574769		2192	4292	6484	TCF12	SO:0001583	missense	0			-	HGNC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.2033C>T	15.37:g.57574769C>T	ENSP00000267811:p.Pro678Leu	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	57	16.18	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P702L	ENST00000267811.5	37	c.2105	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277830	0.80692	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.28895	2.17;2.17;2.17;2.17;1.94;1.59;1.95	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.998;0.991;0.999;0.998;0.996;0.998	T	0.54302	-0.8314	10	0.72032	D	0.01	-7.566	19.8788	0.96888	0.0:1.0:0.0:0.0	.	312;532;442;698;532;508;678;702	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	L	678;702;698;702;532;442;508;290	ENSP00000267811:P678L;ENSP00000388940:P702L;ENSP00000396881:P698L;ENSP00000331057:P702L;ENSP00000440017:P532L;ENSP00000444696:P442L;ENSP00000342459:P508L	ENSP00000267811:P678L	P	+	2	0	TCF12	55362061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.708000	0.92522	0.650000	0.86243	CCT	-	NULL		0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	protein_coding	OTTHUMT00000255069.3	C	NM_003205	-		57574769	1	no_errors	ENST00000438423	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57574769	C	T	57574769	3	4	205	1	0	0	0	0	1	0	0	0	15694	681	24	2	2252	2	TCF12	15	57574769	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3580294	57574769	44956623	328	16849											
CGNL1	84952	genome.wustl.edu	37	chr15	57821011	57821011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggctggtcaagcagatgGaggtctgtgggccgtacagt	17	8	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:57821011G>A	ENST00000281282.5	+	13	3277	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1067						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAAGCAGATGGAGGTCTGTGG	0.582																																																	0								ENSG00000128849						47	41	43					15																	57821011		2192	4292	6484	CGNL1	SO:0001583	missense	0			-	HGNC	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3199G>A	15.37:g.57821011G>A	ENSP00000281282:p.Glu1067Lys	Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP							pfam_Myosin_tail,prints_Tropomyosin	p.E1067K	ENST00000281282.5	37	c.3199	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.438638	0.96168	.	.	ENSG00000128849	ENST00000281282	D	0.85861	-2.04	5.02	5.02	0.67125	Myosin tail (1);	0.286456	0.25622	N	0.029403	D	0.93959	0.8066	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95050	0.8186	10	0.87932	D	0	-38.0483	18.7116	0.91659	0.0:0.0:1.0:0.0	.	1067	Q0VF96	CGNL1_HUMAN	K	1067	ENSP00000281282:E1067K	ENSP00000281282:E1067K	E	+	1	0	CGNL1	55608303	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.759000	0.91667	2.469000	0.83416	0.563000	0.77884	GAG	-	pfam_Myosin_tail		0.582	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	protein_coding	OTTHUMT00000255482.2	G	NM_032866	-		57821011	1	no_errors	ENST00000281282	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57821011	G	A	57821011	3	1	205	1	0	0	0	0	1	0	0	0	3306	1175	41	2	3245	2	CGNL1	15	57821011	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	246242	57821011	44710381	329	16850											
CILP	8483	genome.wustl.edu	37	chr15	65499297	65499297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggacgggcacatacacggtCcccatagtagaagcgaatgg	14	10	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:65499297C>T	ENST00000261883.4	-	4	413	c.247G>A	c.(247-249)Gac>Aac	p.D83N		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	83					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATACACGGTCCCCATAGTAG	0.627																																																	0								ENSG00000138615						48	40	43					15																	65499297		2201	4299	6500	CILP	SO:0001583	missense	0			-	HGNC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.247G>A	15.37:g.65499297C>T	ENSP00000261883:p.Asp83Asn	Somatic	0	52	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	55	12.70	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.D83N	ENST00000261883.4	37	c.247	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969073	0.53614	.	.	ENSG00000138615	ENST00000261883	T	0.16196	2.36	5.58	4.66	0.58398	.	0.582262	0.20357	N	0.093936	T	0.13329	0.0323	L	0.34521	1.04	0.26101	N	0.980828	B	0.27316	0.175	B	0.30943	0.122	T	0.20505	-1.0273	10	0.29301	T	0.29	-18.6526	8.0872	0.30780	0.0:0.7555:0.1608:0.0837	.	83	O75339	CILP1_HUMAN	N	83	ENSP00000261883:D83N	ENSP00000261883:D83N	D	-	1	0	CILP	63286350	0.606000	0.26949	0.937000	0.37676	0.993000	0.82548	2.260000	0.43267	1.342000	0.45619	0.561000	0.74099	GAC	-	NULL		0.627	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	protein_coding	OTTHUMT00000256829.1	C	NM_003613	-		65499297	-1	no_errors	ENST00000261883	ensembl	human	known	74_37	missense	SNP	0.917	T	T	65499297	C	T	65499297	3	4	205	1	0	0	0	0	1	0	0	0	3431	855	30	2	3331	2	CILP	15	65499297	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7678286	65499297	37032095	330	16851											
CYP1A2	1544	genome.wustl.edu	37	chr15	75042719	75042719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacttccctgagagtagcGatgagatgctcagcctcgtg	12	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:75042719G>A	ENST00000343932.4	+	2	703	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	214					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	TGAGAGTAGCGATGAGATGCT	0.577																																																	0								ENSG00000140505						283	234	251					15																	75042719		2197	4296	6493	CYP1A2	SO:0001583	missense	0			-	HGNC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.640G>A	15.37:g.75042719G>A	ENSP00000342007:p.Asp214Asn	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D214N	ENST00000343932.4	37	c.640	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023373	0.19433	.	.	ENSG00000140505	ENST00000343932	T	0.79554	-1.28	4.98	0.641	0.17759	.	0.384909	0.32301	N	0.006289	T	0.63153	0.2487	N	0.16266	0.395	0.25696	N	0.985636	B	0.23185	0.081	B	0.22601	0.04	T	0.56147	-0.8027	10	0.56958	D	0.05	.	8.0346	0.30484	0.1694:0.3419:0.4887:0.0	.	214	P05177-2	.	N	214	ENSP00000342007:D214N	ENSP00000342007:D214N	D	+	1	0	CYP1A2	72829772	0.013000	0.17824	0.071000	0.20095	0.009000	0.06853	0.042000	0.13949	0.268000	0.21939	0.561000	0.74099	GAT	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	G	NM_000761	-		75042719	1	no_errors	ENST00000343932	ensembl	human	known	74_37	missense	SNP	0.621	A	A	75042719	G	A	75042719	3	1	205	1	0	0	0	0	1	0	0	0	4152	1058	37	1	642	1	CYP1A2	15	75042719	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	9543422	75042719	27488673	331	16852											
MEX3B	84206	genome.wustl.edu	37	chr15	82336250	82336250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctcagggcggggctagGggggctgtagtccgccaggc	19	10	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:82336250G>A	ENST00000329713.4	-	2	1396	c.961C>T	c.(961-963)Cct>Tct	p.P321S	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	321					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						GCGGGGCTAGGGGGGCTGTAG	0.627																																																	0								ENSG00000183496						41	48	46					15																	82336250		2197	4268	6465	MEX3B	SO:0001583	missense	0			-	HGNC	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.961C>T	15.37:g.82336250G>A	ENSP00000329918:p.Pro321Ser	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.P321S	ENST00000329713.4	37	c.961	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238204	0.39598	.	.	ENSG00000183496	ENST00000329713	T	0.23754	1.89	4.85	4.85	0.62838	.	0.142623	0.46758	D	0.000275	T	0.19725	0.0474	L	0.35414	1.06	0.80722	D	1	B	0.24721	0.11	B	0.25884	0.064	T	0.03945	-1.0990	10	0.09590	T	0.72	-23.6302	15.9169	0.79527	0.0:0.0:1.0:0.0	.	321	Q6ZN04	MEX3B_HUMAN	S	321	ENSP00000329918:P321S	ENSP00000329918:P321S	P	-	1	0	MEX3B	80123305	0.906000	0.30813	0.999000	0.59377	0.988000	0.76386	1.237000	0.32695	2.515000	0.84797	0.563000	0.77884	CCT	-	NULL		0.627	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	protein_coding	OTTHUMT00000304000.1	G	XM_290645	-		82336250	-1	no_errors	ENST00000329713	ensembl	human	known	74_37	missense	SNP	1.000	A	A	82336250	G	A	82336250	3	1	205	1	0	0	0	0	1	0	0	0	9512	1232	43	2	752	2	MEX3B	15	82336250	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7293531	82336250	20195142	332	16853											
FSD2	123722	genome.wustl.edu	37	chr15	83430979	83430979	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatccacctccacctcCcagtaatggtgccctcggac	7	18	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:83430979C>T	ENST00000334574.8	-	12	2053	c.1872G>A	c.(1870-1872)tgG>tgA	p.W624*	FSD2_ENST00000541889.1_Nonsense_Mutation_p.W579*			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	624	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCTCCACCTCCCAGTAATGGT	0.522																																																	0								ENSG00000186628						105	105	105					15																	83430979		2049	4187	6236	FSD2	SO:0001587	stop_gained	0			-	HGNC	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.1872G>A	15.37:g.83430979C>T	ENSP00000335651:p.Trp624*	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B3KVG1|B7ZM02	Nonsense_Mutation	SNP							pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.W624*	ENST00000334574.8	37	c.1872	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.800938	0.98498	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	.	.	.	5.73	5.73	0.89815	.	0.112278	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8359	18.8873	0.92383	0.0:1.0:0.0:0.0	.	.	.	.	X	624;579	.	ENSP00000335651:W624X	W	-	3	0	FSD2	81228033	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.212000	0.77941	2.708000	0.92522	0.655000	0.94253	TGG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	protein_coding	OTTHUMT00000418385.1	C	NM_001007122	-		83430979	-1	no_errors	ENST00000334574	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	83430979	C	T	83430979	4	4	205	1	0	0	0	0	0	1	0	0	6073	624	22	2	385	2	FSD2	15	83430979	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1094729	83430979	19100413	333	16854											
ACAN	176	genome.wustl.edu	37	chr15	89382065	89382065	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggagccgtgtgtccaaggAgaaggaggtagtgctgctgg	19	6	0	1	rs373267308		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:89382065A>T	ENST00000561243.1	+	2	242	c.242A>T	c.(241-243)gAg>gTg	p.E81V	ACAN_ENST00000439576.2_Missense_Mutation_p.E81V|ACAN_ENST00000558207.1_Missense_Mutation_p.E81V|ACAN_ENST00000352105.7_Missense_Mutation_p.E81V|ACAN_ENST00000559004.1_Missense_Mutation_p.E81V			P16112	PGCA_HUMAN	aggrecan	81	G1-A.|Ig-like V-type.				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)			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)			GTGTCCAAGGAGAAGGAGGTA	0.612																																																	0								ENSG00000157766						106	122	117					15																	89382065		2107	4230	6337	ACAN	SO:0001583	missense	0			-	HGNC	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.242A>T	15.37:g.89382065A>T	ENSP00000453342:p.Glu81Val	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.E81V	ENST00000561243.1	37	c.242	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	A	16.56	3.157871	0.57368	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.67171	-0.25;-0.25	5.66	3.39	0.38822	.	.	.	.	.	T	0.68265	0.2982	L	0.42245	1.32	0.31557	N	0.658006	D;D;P	0.58970	0.984;0.984;0.459	P;P;B	0.57679	0.825;0.825;0.222	T	0.69105	-0.5233	9	0.56958	D	0.05	-12.5453	7.7781	0.29049	0.8336:0.0:0.1664:0.0	.	81;81;81	E7ENV9;E7EX88;Q6PID9	.;.;.	V	81	ENSP00000387356:E81V;ENSP00000341615:E81V	ENSP00000268134:E81V	E	+	2	0	ACAN	87183069	0.908000	0.30866	1.000000	0.80357	0.929000	0.56500	2.233000	0.43027	2.171000	0.68590	0.482000	0.46254	GAG	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	A	NM_001135	-		89382065	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89382065	A	T	89382065	3	4	205	1	0	0	0	0	1	0	0	0	117	304	11	5	248	5	ACAN	15	89382065	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	5951086	89382065	13149327	334	16855											
TARSL2	123283	genome.wustl.edu	37	chr15	102215839	102215839	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatctcaatctctcctagGaagttttccggccttgttga	7	12	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr15:102215839G>A	ENST00000335968.3	-	13	1968	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	584					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCTCCTAGGAAGTTTTCCG	0.423																																																	0								ENSG00000185418						150	143	146					15																	102215839		2203	4300	6503	TARSL2	SO:0001819	synonymous_variant	0			-	HGNC	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1752C>T	15.37:g.102215839G>A		Somatic	0	57	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	98	10.91	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.F584	ENST00000335968.3	37	c.1752	CCDS10394.1	15																																																																																			-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa		0.423	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	protein_coding	OTTHUMT00000313619.3	G	NM_152334	-		102215839	-1	no_errors	ENST00000335968	ensembl	human	known	74_37	silent	SNP	1.000	A	A	102215839	G	A	102215839	2	1	205	1	0	0	0	0	0	0	0	1	15568	1165	41	2		2	TARSL2	15	102215839	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	12833774	102215839	315553	335	16856											
CCDC78	124093	genome.wustl.edu	37	chr16	775537	775537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccctggctggtgccatctCctcgcagctccagctccagt	10	17	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:775537C>T	ENST00000293889.6	-	4	416	c.311G>A	c.(310-312)gGa>gAa	p.G104E	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	104					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGTGCCATCTCCTCGCAGCTC	0.662																																																	0								ENSG00000162004						51	49	50					16																	775537		2193	4298	6491	CCDC78	SO:0001583	missense	0			-	HGNC	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.311G>A	16.37:g.775537C>T	ENSP00000293889:p.Gly104Glu	Somatic	0	26	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP							NULL	p.G104E	ENST00000293889.6	37	c.311	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335081	0.60853	.	.	ENSG00000162004	ENST00000293889	T	0.44881	0.91	4.68	4.68	0.58851	.	0.855421	0.10284	N	0.693117	T	0.57373	0.2049	L	0.50333	1.59	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.98	D;D;D;P	0.66351	0.924;0.924;0.943;0.762	T	0.46911	-0.9157	10	0.37606	T	0.19	-0.2685	13.4286	0.61042	0.0:1.0:0.0:0.0	.	104;104;178;104	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	E	104	ENSP00000293889:G104E	ENSP00000293889:G104E	G	-	2	0	CCDC78	715538	0.003000	0.15002	0.006000	0.13384	0.065000	0.16274	1.595000	0.36708	2.344000	0.79699	0.436000	0.28706	GGA	-	NULL		0.662	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	protein_coding	OTTHUMT00000241665.3	C	NM_173476	-		775537	-1	no_errors	ENST00000293889	ensembl	human	known	74_37	missense	SNP	0.026	T	T	775537	C	T	775537	3	4	205	1	0	0	0	0	1	0	0	0	2854	855	30	2	1049	2	CCDC78	16	775537	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		775537	89579216	336	16857											
PTX4	390667	genome.wustl.edu	37	chr16	1536178	1536178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcctggcccagcacgaggGaccctccgggggggatctca	15	14	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:1536178G>A	ENST00000447419.2	-	3	1224	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.S395F			Q96A99	PTX4_HUMAN	pentraxin 4, long	400	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CAGCACGAGGGACCCTCCGGG	0.677																																																	0								ENSG00000251692						36	36	36					16																	1536178		2199	4300	6499	PTX4	SO:0001583	missense	0			-	HGNC		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1199C>T	16.37:g.1536178G>A	ENSP00000445277:p.Ser400Phe	Somatic	0	90	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	85	22.02		Missense_Mutation	SNP							pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S400F	ENST00000447419.2	37	c.1199		16	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847280	0.32606	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.08720	3.06;3.06	5.45	4.46	0.54185	.	0.215178	0.40302	N	0.001125	T	0.23171	0.0560	L	0.58101	1.795	0.39136	D	0.961944	D	0.56968	0.978	D	0.66847	0.947	T	0.00548	-1.1677	10	0.54805	T	0.06	.	14.1245	0.65210	0.0:0.1504:0.8496:0.0	.	395	Q96A99-2	.	F	400;395	ENSP00000445277:S400F;ENSP00000293922:S395F	ENSP00000293922:S395F	S	-	2	0	PTX4	1476179	0.998000	0.40836	0.984000	0.44739	0.229000	0.25112	4.143000	0.58051	2.569000	0.86673	0.563000	0.77884	TCC	-	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.677	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	protein_coding	OTTHUMT00000432526.1	G	NM_001013658	-		1536178	-1	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	SNP	0.927	A	A	1536178	G	A	1536178	3	1	205	1	0	0	0	0	1	0	0	0	12831	1174	41	2	240	2	PTX4	16	1536178	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	760641	1536178	88818575	337	16858											
ZNF597	146434	genome.wustl.edu	37	chr16	3486648	3486648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataagctcagagaaacaagGaaaggtcatgtcacagtcag	10	7	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:3486648G>A	ENST00000301744.4	-	4	1286	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	351					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(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						gagaaacaaggaaaggtcatg	0.453																																																	0								ENSG00000167981						53	49	51					16																	3486648		2197	4300	6497	ZNF597	SO:0001583	missense	0			-	HGNC	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.1051C>T	16.37:g.3486648G>A	ENSP00000301744:p.Pro351Ser	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P351S	ENST00000301744.4	37	c.1051	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903597	0.17760	.	.	ENSG00000167981	ENST00000301744	T	0.26373	1.74	4.76	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.519308	0.14416	N	0.320947	T	0.06371	0.0164	N	0.01228	-0.945	0.22001	N	0.999425	B	0.29432	0.244	B	0.26770	0.073	T	0.35450	-0.9788	10	0.02654	T	1	-3.2393	6.4229	0.21754	0.1006:0.2855:0.6139:0.0	.	351	Q96LX8	ZN597_HUMAN	S	351	ENSP00000301744:P351S	ENSP00000301744:P351S	P	-	1	0	ZNF597	3426649	0.000000	0.05858	0.263000	0.24496	0.971000	0.66376	0.003000	0.13083	1.356000	0.45884	0.650000	0.86243	CCT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	protein_coding	OTTHUMT00000251511.2	G	NM_152457	-		3486648	-1	no_errors	ENST00000301744	ensembl	human	known	74_37	missense	SNP	0.569	A	A	3486648	G	A	3486648	3	1	205	1	0	0	0	0	1	0	0	0	18034	1174	41	2	227	2	ZNF597	16	3486648	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1950470	3486648	86868105	338	16859											
NLRC3	197358	genome.wustl.edu	37	chr16	3614547	3614547	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggacagacacccgggagaGaggcaggaagagccggtcca	17	10	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:3614547G>A	ENST00000301749.7	-	0	796				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGGGAGAGAGGCAGGAAG	0.701																																																	0								ENSG00000167984						21	27	25					16																	3614547		1905	4090	5995	NLRC3			0			-	HGNC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614547G>A		Somatic	0	19	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L178F	ENST00000301749.7	37	c.532		16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941869	0.73557	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.78816	-0.66;-0.69;-0.67;-1.21	4.73	3.77	0.43336	.	0.000000	0.64402	D	0.000006	D	0.85044	0.5607	.	.	.	0.28666	N	0.905881	D	0.89917	1.0	D	0.85130	0.997	T	0.78122	-0.2327	9	0.39692	T	0.17	.	10.4868	0.44726	0.0958:0.0:0.9042:0.0	.	178	C9JLH9	.	F	131;131;131;178;113	ENSP00000301749:L131F;ENSP00000352039:L131F;ENSP00000414415:L178F;ENSP00000323897:L113F	ENSP00000301749:L131F	L	-	1	0	NLRC3	3554548	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	6.378000	0.73150	0.975000	0.38392	0.655000	0.94253	CTC	-	superfamily_P-loop_NTPase		0.701	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	polymorphic_pseudogene		G	NM_178844	-		3614547	-1	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	SNP	0.999	A	A	3614547	G	A	3614547	1	1	205	0	1	0	0	0	0	0	0	0	10470	942	33	2		2	NLRC3	16	3614547	RNA	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	127899	3614547	86740206	339	16860											
TMC7	79905	genome.wustl.edu	37	chr16	19020580	19020580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaccggtccattgcacgtAggagaacgactgtccattcc	10	13	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:19020580A>G	ENST00000304381.5	+	2	284	c.154A>G	c.(154-156)Agg>Ggg	p.R52G	RNU6-1340P_ENST00000384438.1_RNA|TMC7_ENST00000569532.1_Missense_Mutation_p.R52G|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	52					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CATTGCACGTAGGAGAACGAC	0.493																																																	0								ENSG00000170537						95	89	91					16																	19020580		2197	4300	6497	TMC7	SO:0001583	missense	0			-	HGNC	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.154A>G	16.37:g.19020580A>G	ENSP00000304710:p.Arg52Gly	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP							pfam_TMC	p.R52G	ENST00000304381.5	37	c.154	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333452	0.60853	.	.	ENSG00000170537	ENST00000304381	T	0.72835	-0.69	5.33	1.41	0.22369	.	0.170845	0.49916	D	0.000128	T	0.76478	0.3993	L	0.58810	1.83	0.28670	N	0.905652	D;P;P	0.63880	0.993;0.822;0.469	P;B;B	0.62382	0.901;0.424;0.223	T	0.70916	-0.4742	10	0.87932	D	0	.	10.394	0.44190	0.494:0.506:0.0:0.0	.	52;52;52	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	G	52	ENSP00000304710:R52G	ENSP00000304710:R52G	R	+	1	2	TMC7	18928081	0.675000	0.27558	0.681000	0.30009	0.774000	0.43823	1.843000	0.39259	0.365000	0.24400	0.528000	0.53228	AGG	-	NULL		0.493	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	protein_coding	OTTHUMT00000254276.3	A	NM_024847	-		19020580	1	no_errors	ENST00000304381	ensembl	human	known	74_37	missense	SNP	0.463	G	G	19020580	A	G	19020580	3	3	205	1	0	0	0	0	1	0	0	0	15997	411	15	5	160	5	TMC7	16	19020580	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	15406033	19020580	71334173	340	16861											
VWA3A	146177	genome.wustl.edu	37	chr16	22157664	22157664	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagtggctgctgtcCggtgagcctgcccactgccc	14	15	0	1	rs377486149	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:22157664C>T	ENST00000389398.5	+	27	2934	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	VWA3A_ENST00000563755.1_Splice_Site_p.S24S|VWA3A_ENST00000389397.4_Splice_Site_p.S24S	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	946						extracellular region (GO:0005576)		p.S142S(1)|p.S24S(1)|p.S946S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGCTGCTGTCCGGTGAGCCTG	0.602													C|||	2	0.000399361	8e-04	0	5008	,	,		15252	0		0	False		,,,				2504	0.001																3	Substitution - coding silent(3)	large_intestine(3)						ENSG00000175267	C		1,4223		0,1,2111	61	64	63		2838	-4.1	1	16		63	0,8460		0,0,4230	no	coding-synonymous-near-splice	VWA3A	NM_173615.3		0,1,6341	TT,TC,CC		0.0,0.0237,0.0079		946/1185	22157664	1,12683	2112	4230	6342	VWA3A	SO:0001630	splice_region_variant	0			-	HGNC	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2839+1C>T	16.37:g.22157664C>T		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP							pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S946	ENST00000389398.5	37	c.2838	CCDS45441.1	16																																																																																			-	NULL		0.602	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	protein_coding	OTTHUMT00000430052.1	C		-	Silent	22157664	1	no_errors	ENST00000389398	ensembl	human	known	74_37	silent	SNP	0.976	T	T	22157664	C	T	22157664	5	4	205	1	0	0	0	0	0	0	1	0	17247	666	23	1	2944	1	VWA3A	16	22157664	Splice_Site	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3137084	22157664	68197089	341	16862											
SEPT1	1731	genome.wustl.edu	37	chr16	30392489	30392489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctggggcatcagagcatCcgctttgccaatgactggga	12	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:30392489C>T	ENST00000571393.1	-	7	703	c.517G>A	c.(517-519)Gat>Aat	p.D173N	SEPT1_ENST00000605106.1_Missense_Mutation_p.D178N|SEPT1_ENST00000321367.3_Missense_Mutation_p.D220N|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	173	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			ATCAGAGCATCCGCTTTGCCA	0.552																																																	0								ENSG00000180096						190	174	179					16																	30392489		2197	4300	6497	SEPT1	SO:0001583	missense	0			-	HGNC	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.517G>A	16.37:g.30392489C>T	ENSP00000460441:p.Asp173Asn	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	70	17.65	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP							pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.D220N	ENST00000571393.1	37	c.658		16	.	.	.	.	.	.	.	.	.	.	C	33	5.209959	0.95069	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	D	0.87617	0.6222	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90164	0.4230	9	0.87932	D	0	.	19.1152	0.93336	0.0:1.0:0.0:0.0	.	173	Q8WYJ6	SEPT1_HUMAN	N	173	.	ENSP00000324511:D173N	D	-	1	0	SEPT1	30299990	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	7.818000	0.86416	2.815000	0.96918	0.561000	0.74099	GAT	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin		0.552	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	protein_coding		C	NM_052838	-		30392489	-1	no_errors	ENST00000321367	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30392489	C	T	30392489	3	4	205	1	0	0	0	0	1	0	0	0	14067	855	30	2	610	2	SEPT1	16	30392489	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	8234825	30392489	59962264	342	16863											
ITGAX	3687	genome.wustl.edu	37	chr16	31371384	31371384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccgccatccaaaatgtCgtgtgagtcctgatttcttc	8	13	1	2	rs372032821		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:31371384C>T	ENST00000268296.4	+	7	826	c.705C>T	c.(703-705)gtC>gtT	p.V235V	ITGAX_ENST00000562522.1_Silent_p.V235V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	235	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			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						TCCAAAATGTCGTGTGAGTCC	0.552																																																	0								ENSG00000140678						80	79	80					16																	31371384		2197	4300	6497	ITGAX	SO:0001819	synonymous_variant	0			-	HGNC	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.705C>T	16.37:g.31371384C>T		Somatic	0	28	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	Q8IVA6	Silent	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V235	ENST00000268296.4	37	c.705	CCDS10711.1	16																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.552	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	protein_coding	OTTHUMT00000255628.2	C	NM_000887	-		31371384	1	no_errors	ENST00000268296	ensembl	human	known	74_37	silent	SNP	0.723	T	T	31371384	C	T	31371384	2	4	205	1	0	0	0	0	0	0	0	1	7891	871	31	1		1	ITGAX	16	31371384	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	978895	31371384	58983369	343	16864											
ABCC12	94160	genome.wustl.edu	37	chr16	48145570	48145570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcattgtaaaggtgttcagGatcctggagacaaaatgaaa	11	5	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:48145570G>A	ENST00000311303.3	-	15	2473	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.P710S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	710						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGTGTTCAGGATCCTGGAGA	0.498																																																	0								ENSG00000140798						200	208	206					16																	48145570		2201	4300	6501	ABCC12	SO:0001583	missense	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2128C>T	16.37:g.48145570G>A	ENSP00000311030:p.Pro710Ser	Somatic	0	60	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P710S	ENST00000311303.3	37	c.2128	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346201	0.24426	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.92495	-2.78;-3.05	5.19	5.19	0.71726	.	0.401974	0.25151	N	0.032757	D	0.87830	0.6276	L	0.45470	1.425	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.82510	-0.0421	10	0.10377	T	0.69	.	14.2008	0.65703	0.0:0.0:1.0:0.0	.	710	Q96J65	MRP9_HUMAN	S	710;710;652	ENSP00000311030:P710S;ENSP00000401855:P710S	ENSP00000311030:P710S	P	-	1	0	ABCC12	46703071	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	5.182000	0.65059	2.417000	0.82017	0.561000	0.74099	CCT	-	NULL		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	G	NM_033226	-		48145570	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48145570	G	A	48145570	3	1	205	1	0	0	0	0	1	0	0	0	52	1174	41	2	2011	2	ABCC12	16	48145570	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	16774186	48145570	42209183	344	16865											
ADCY7	113	genome.wustl.edu	37	chr16	50325793	50325793	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttcacgacacccagtgtCcgggtggggctgcaggtgag	17	11	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:50325793C>T	ENST00000394697.2	+	4	862	c.522C>T	c.(520-522)gtC>gtT	p.V174V	ADCY7_ENST00000537579.1_Silent_p.V174V|ADCY7_ENST00000538642.1_Silent_p.V174V|ADCY7_ENST00000254235.3_Silent_p.V174V|ADCY7_ENST00000566433.2_Silent_p.V174V|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	174					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CACCCAGTGTCCGGGTGGGGC	0.652																																																	0								ENSG00000121281						53	52	52					16																	50325793		2198	4300	6498	ADCY7	SO:0001819	synonymous_variant	0			-	HGNC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.522C>T	16.37:g.50325793C>T		Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78	A0AVA6	Silent	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V174	ENST00000394697.2	37	c.522	CCDS10741.1	16																																																																																			-	NULL		0.652	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	protein_coding	OTTHUMT00000256877.3	C		-		50325793	1	no_errors	ENST00000254235	ensembl	human	known	74_37	silent	SNP	0.000	T	T	50325793	C	T	50325793	2	4	205	1	0	0	0	0	0	0	0	1	299	842	30	2		2	ADCY7	16	50325793	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2180223	50325793	40028960	345	16866											
SALL1	6299	genome.wustl.edu	37	chr16	51175382	51175382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacagcaatatttggtgacGaatctgttcgatcaattgca	8	8	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:51175382G>A	ENST00000251020.4	-	2	784	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R154C	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	251					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)	p.R251C(1)		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)			ATTTGGTGACGAATCTGTTCG	0.532																																					GBM(103;1352 1446 1855 4775 8890)												1	Substitution - Missense(1)	lung(1)						ENSG00000103449						85	88	87					16																	51175382		2198	4300	6498	SALL1	SO:0001583	missense	0			-	HGNC	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.751C>T	16.37:g.51175382G>A	ENSP00000251020:p.Arg251Cys	Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.55	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R251C	ENST00000251020.4	37	c.751	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871584	0.72065	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09350	3.02;2.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00611	-1.1645	10	0.54805	T	0.06	.	19.11	0.93313	0.0:0.0:1.0:0.0	.	251	Q9NSC2	SALL1_HUMAN	C	251;154;215	ENSP00000251020:R251C;ENSP00000407914:R154C	ENSP00000251020:R251C	R	-	1	0	SALL1	49732883	1.000000	0.71417	0.475000	0.27278	0.971000	0.66376	9.850000	0.99511	2.493000	0.84123	0.561000	0.74099	CGT	-	NULL		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	G	NM_002968	-		51175382	-1	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51175382	G	A	51175382	3	1	205	1	0	0	0	0	1	0	0	0	13818	1058	37	1	3231	1	SALL1	16	51175382	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	849589	51175382	39179371	346	16867											
CCDC113	29070	genome.wustl.edu	37	chr16	58312541	58312541	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagtggagatagcagaGgtgagccacggggagcccca	17	8	0	3	rs374568797		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:58312541G>T	ENST00000219299.4	+	8	1126	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	CCDC113_ENST00000443128.2_Splice_Site_p.E295D	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	349						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATAGCAGAGGTGAGCCACG	0.483																																																	0								ENSG00000103021						58	60	59					16																	58312541		2198	4300	6498	CCDC113	SO:0001630	splice_region_variant	0			-	HGNC	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.1047+1G>T	16.37:g.58312541G>T		Somatic	0	17	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP							NULL	p.E349D	ENST00000219299.4	37	c.1047	CCDS10795.1	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807476	0.90623	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.39056	1.17;1.1	5.67	5.67	0.87782	.	0.102167	0.64402	D	0.000003	T	0.68384	0.2995	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70788	-0.4777	10	0.54805	T	0.06	-19.0197	17.2642	0.87081	0.0:0.0:1.0:0.0	.	295;349	B4DR20;Q9H0I3	.;CC113_HUMAN	D	295;349	ENSP00000402588:E295D;ENSP00000219299:E349D	ENSP00000219299:E349D	E	+	3	2	CCDC113	56870042	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.161000	0.77505	2.676000	0.91093	0.561000	0.74099	GAG	-	NULL		0.483	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC113	protein_coding	OTTHUMT00000257387.2	G	NM_014157	-	Missense_Mutation	58312541	1	no_errors	ENST00000219299	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58312541	G	T	58312541	5	4	205	1	0	0	0	0	0	0	1	0	2752	1014	35	3	1077	3	CCDC113	16	58312541	Splice_Site	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7137159	58312541	32042212	347	16868											
NDRG4	65009	genome.wustl.edu	37	chr16	58545342	58545342	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagtgccctcagccagcatGacccgcctggcacgctcccg	10	19	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:58545342G>A	ENST00000570248.1	+	15	1027	c.921G>A	c.(919-921)atG>atA	p.M307I	NDRG4_ENST00000568640.1_Missense_Mutation_p.M312I|NDRG4_ENST00000566192.1_Missense_Mutation_p.M294I|NDRG4_ENST00000394279.2_Missense_Mutation_p.M326I|NDRG4_ENST00000356752.4_Missense_Mutation_p.M324I|NDRG4_ENST00000258187.5_Missense_Mutation_p.M326I|NDRG4_ENST00000394282.4_Missense_Mutation_p.M346I|NDRG4_ENST00000563799.1_Missense_Mutation_p.M312I|NDRG4_ENST00000562999.1_Missense_Mutation_p.M282I|NDRG4_ENST00000569923.1_Missense_Mutation_p.M239I	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	307					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CAGCCAGCATGACCCGCCTGG	0.672																																																	0								ENSG00000103034						67	66	66					16																	58545342		2198	4298	6496	NDRG4	SO:0001583	missense	0			-	HGNC	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.921G>A	16.37:g.58545342G>A	ENSP00000457659:p.Met307Ile	Somatic	0	70	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	108	21.17	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP							pfam_Ndr	p.M346I	ENST00000570248.1	37	c.1038	CCDS58466.1	16	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343119	0.82022	.	.	ENSG00000103034	ENST00000258187;ENST00000421602;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.19806	2.13;2.12;2.13;2.12	5.57	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.71871	2.18	0.51767	D	0.999934	P;D;D;P;P;P;P	0.60160	0.945;0.987;0.973;0.803;0.931;0.949;0.949	B;P;P;B;B;P;P	0.51516	0.388;0.625;0.672;0.221;0.294;0.546;0.546	T	0.10382	-1.0632	10	0.66056	D	0.02	-33.1248	9.2156	0.37344	0.0758:0.1472:0.777:0.0	.	312;324;312;294;307;346;326	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	I	326;252;346;326;324	ENSP00000258187:M326I;ENSP00000377823:M346I;ENSP00000377820:M326I;ENSP00000349193:M324I	ENSP00000258187:M326I	M	+	3	0	NDRG4	57102843	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.690000	0.84178	1.338000	0.45544	0.655000	0.94253	ATG	-	NULL		0.672	NDRG4-009	KNOWN	basic|CCDS	protein_coding	NDRG4	protein_coding	OTTHUMT00000422671.2	G		-		58545342	1	no_errors	ENST00000394282	ensembl	human	known	74_37	missense	SNP	1.000	A	A	58545342	G	A	58545342	3	1	205	1	0	0	0	0	1	0	0	0	10256	1290	45	2	1100	2	NDRG4	16	58545342	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	232801	58545342	31809411	348	16869											
CDH16	1014	genome.wustl.edu	37	chr16	66949219	66949219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcaggatgtggaatcgaaGatccgagttggctgtgcctg	15	8	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:66949219G>A	ENST00000299752.4	-	6	680	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	CDH16_ENST00000570262.1_Missense_Mutation_p.L83F|CDH16_ENST00000394055.3_Missense_Mutation_p.L163F|CDH16_ENST00000565796.1_Missense_Mutation_p.L163F|CDH16_ENST00000568632.1_Intron	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	163	Cadherin 2. {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)		TGGAATCGAAGATCCGAGTTG	0.612																																																	0								ENSG00000166589						64	64	64					16																	66949219		2200	4300	6500	CDH16	SO:0001583	missense	0			-	HGNC	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.487C>T	16.37:g.66949219G>A	ENSP00000299752:p.Leu163Phe	Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	45	27.42	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L163F	ENST00000299752.4	37	c.487	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608270	0.46527	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53640	0.61;0.61	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000013	T	0.70386	0.3218	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.75127	-0.3427	10	0.72032	D	0.01	-12.4344	14.0719	0.64865	0.0:0.0:1.0:0.0	.	163;163	O75309-2;O75309	.;CAD16_HUMAN	F	163;163;127	ENSP00000377619:L163F;ENSP00000299752:L163F	ENSP00000299752:L163F	L	-	1	0	CDH16	65506720	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.696000	0.61774	2.382000	0.81193	0.563000	0.77884	CTT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	protein_coding	OTTHUMT00000268839.2	G	NM_004062	-		66949219	-1	no_errors	ENST00000299752	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66949219	G	A	66949219	3	1	205	1	0	0	0	0	1	0	0	0	3103	942	33	2	2054	2	CDH16	16	66949219	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	8403877	66949219	23405534	349	16870											
CENPT	80152	genome.wustl.edu	37	chr16	67864385	67864385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgaggcgtgcagggcaggGagtgatacacgttgggggag	21	5	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:67864385G>A	ENST00000562787.1	-	11	1318	c.770C>T	c.(769-771)tCc>tTc	p.S257F	CENPT_ENST00000440851.2_Missense_Mutation_p.S257F|CENPT_ENST00000564817.1_Missense_Mutation_p.S257F|CENPT_ENST00000219172.3_Missense_Mutation_p.S257F|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	257	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCAGGGCAGGGAGTGATACAC	0.592																																																	0								ENSG00000102901						84	98	93					16																	67864385		2119	4231	6350	CENPT	SO:0001583	missense	0			-	HGNC	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.770C>T	16.37:g.67864385G>A	ENSP00000457810:p.Ser257Phe	Somatic	0	27	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP							superfamily_Histone-fold	p.S257F	ENST00000562787.1	37	c.770	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700472	0.48307	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	T;T	0.50548	0.74;0.74	5.2	2.1	0.27182	.	0.310402	0.28488	N	0.015178	T	0.43765	0.1262	M	0.74881	2.28	0.09310	N	0.999999	B;B	0.24882	0.113;0.053	B;B	0.26864	0.074;0.037	T	0.45234	-0.9275	10	0.62326	D	0.03	-6.7762	5.1451	0.14981	0.178:0.0:0.6561:0.1659	.	257;257	Q96BT3;B3KPB2	CENPT_HUMAN;.	F	257	ENSP00000400140:S257F;ENSP00000219172:S257F	ENSP00000219172:S257F	S	-	2	0	CENPT	66421886	1.000000	0.71417	0.008000	0.14137	0.025000	0.11179	2.675000	0.46875	0.395000	0.25257	0.563000	0.77884	TCC	-	NULL		0.592	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	protein_coding	OTTHUMT00000422020.1	G	NM_025082	-		67864385	-1	no_errors	ENST00000219172	ensembl	human	known	74_37	missense	SNP	0.036	A	A	67864385	G	A	67864385	3	1	205	1	0	0	0	0	1	0	0	0	3244	1174	41	2	939	2	CENPT	16	67864385	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	915166	67864385	22490368	350	16871											
SMPD3	55512	genome.wustl.edu	37	chr16	68405025	68405025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagtccaggttggcggGgaagaaggcggagacctcat	17	8	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:68405025G>A	ENST00000219334.5	-	3	1663	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Missense_Mutation_p.P354S|SMPD3_ENST00000563226.1_Missense_Mutation_p.P354S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	354					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGGTTGGCGGGGAAGAAGGCG	0.602																																																	0								ENSG00000103056						55	52	53					16																	68405025		2198	4300	6498	SMPD3	SO:0001583	missense	0			-	HGNC	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1060C>T	16.37:g.68405025G>A	ENSP00000219334:p.Pro354Ser	Somatic	0	71	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	77	28.04	B7ZL82|Q2M1S8	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.P354S	ENST00000219334.5	37	c.1060	CCDS10867.1	16	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464502	0.84425	.	.	ENSG00000103056	ENST00000219334	T	0.28454	1.61	5.48	5.48	0.80851	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.49513	1.565	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.97110	0.911;1.0;1.0	T	0.51196	-0.8736	10	0.87932	D	0	-14.6389	16.8363	0.85957	0.0:0.0:1.0:0.0	.	354;354;354	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	S	354	ENSP00000219334:P354S	ENSP00000219334:P354S	P	-	1	0	SMPD3	66962526	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.435000	0.97529	2.563000	0.86464	0.563000	0.77884	CCC	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.602	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	protein_coding	OTTHUMT00000268895.3	G	NM_018667	-		68405025	-1	no_errors	ENST00000219334	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68405025	G	A	68405025	3	1	205	1	0	0	0	0	1	0	0	0	14814	1232	43	2	935	2	SMPD3	16	68405025	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	540640	68405025	21949728	351	16872											
NFAT5	10725	genome.wustl.edu	37	chr16	69681482	69681482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggcaactcaaaagcgGgaaatgggttggtattcaca	11	7	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr16:69681482G>A	ENST00000354436.2	+	3	1069	c.751G>A	c.(751-753)Gga>Aga	p.G251R	NFAT5_ENST00000567239.1_Missense_Mutation_p.G269R|NFAT5_ENST00000566899.1_Missense_Mutation_p.G175R|NFAT5_ENST00000393742.2_Missense_Mutation_p.G175R|NFAT5_ENST00000432919.1_Missense_Mutation_p.G269R|NFAT5_ENST00000349945.1_Missense_Mutation_p.G175R	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	251					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCAAAAGCGGGAAATGGGTT	0.358																																																	0								ENSG00000102908						63	62	62					16																	69681482		2193	4293	6486	NFAT5	SO:0001583	missense	0			-	HGNC	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.751G>A	16.37:g.69681482G>A	ENSP00000346420:p.Gly251Arg	Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.G269R	ENST00000354436.2	37	c.805	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653884	0.67472	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.52295	0.68;0.67;0.68;0.67	5.47	5.47	0.80525	.	0.178871	0.50627	D	0.000113	T	0.56891	0.2016	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.96;0.988;0.988	T	0.61879	-0.6972	10	0.62326	D	0.03	-1.9472	19.3142	0.94206	0.0:0.0:1.0:0.0	.	269;251;269	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	R	269;269;175;251;175	ENSP00000396538:G269R;ENSP00000338806:G175R;ENSP00000346420:G251R;ENSP00000377343:G175R	ENSP00000338806:G175R	G	+	1	0	NFAT5	68238983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.596000	0.74113	2.550000	0.86006	0.585000	0.79938	GGA	-	NULL		0.358	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	protein_coding	OTTHUMT00000268952.2	G	NM_138714	-		69681482	1	no_errors	ENST00000432919	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69681482	G	A	69681482	3	1	205	1	0	0	0	0	1	0	0	0	10362	1233	43	2	819	2	NFAT5	16	69681482	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1276457	69681482	20673271	352	16873											
ABR	29	genome.wustl.edu	37	chr17	913999	913999	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgaaggctgggtagagtcGgtccgtgaggagcggctcgg	19	8	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:913999G>C	ENST00000302538.5	-	20	2352	c.2206C>G	c.(2206-2208)Cga>Gga	p.R736G	ABR_ENST00000544583.2_Missense_Mutation_p.R690G|ABR_ENST00000536794.2_Missense_Mutation_p.R518G|ABR_ENST00000291107.2_Missense_Mutation_p.R699G|ABR_ENST00000574437.1_Missense_Mutation_p.R690G|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.R187G	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	736	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGTAGAGTCGGTCCGTGAGG	0.627																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0								ENSG00000159842						79	76	77					17																	913999		2203	4300	6503	ABR	SO:0001583	missense	0			-	HGNC	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2206C>G	17.37:g.913999G>C	ENSP00000303909:p.Arg736Gly	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.R736G	ENST00000302538.5	37	c.2206	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942326	0.34283	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.13	-1.89	0.07689	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.068887	0.56097	D	0.000036	T	0.22360	0.0539	L	0.45228	1.405	0.27717	N	0.945272	B;D;P;D;B;P	0.62365	0.006;0.991;0.546;0.975;0.013;0.638	B;P;B;P;B;P	0.52217	0.023;0.693;0.206;0.653;0.023;0.499	T	0.20140	-1.0284	10	0.35671	T	0.21	.	10.9798	0.47488	0.0:0.1026:0.1922:0.7052	.	518;187;344;699;646;736	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	G	736;690;699;518;187;345	ENSP00000303909:R736G;ENSP00000442048:R690G;ENSP00000291107:R699G;ENSP00000437429:R518G;ENSP00000445198:R187G	ENSP00000291107:R699G	R	-	1	2	ABR	860749	0.024000	0.19004	0.991000	0.47740	0.909000	0.53808	-0.129000	0.10515	-0.112000	0.11979	0.558000	0.71614	CGA	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	protein_coding	OTTHUMT00000206675.4	G		-		913999	-1	no_errors	ENST00000302538	ensembl	human	known	74_37	missense	SNP	0.994	C	C	913999	G	C	913999	3	2	205	1	0	0	0	0	1	0	0	0	99	1124	39	4	389	4	ABR	17	913999	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		913999	80281211	353	16874											
ACAP1	9744	genome.wustl.edu	37	chr17	7253484	7253484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacggggagctgatctggGggctcgagactctgaaggca	17	8	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:7253484G>A	ENST00000158762.3	+	20	2206	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E	KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|ACAP1_ENST00000574499.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	667	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCTGATCTGGGGGCTCGAGAC	0.632																																																	0								ENSG00000072818						73	76	75					17																	7253484		2203	4300	6503	ACAP1	SO:0001583	missense	0			-	HGNC	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.2000G>A	17.37:g.7253484G>A	ENSP00000158762:p.Gly667Glu	Somatic	0	94	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	112	18.12	Q53XN9	Missense_Mutation	SNP							pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.G667E	ENST00000158762.3	37	c.2000	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491888	0.44352	.	.	ENSG00000072818	ENST00000158762	T	0.32753	1.44	5.26	4.3	0.51218	Ankyrin repeat-containing domain (4);	0.288882	0.38005	N	0.001853	T	0.14743	0.0356	N	0.11789	0.175	0.80722	D	1	B	0.21905	0.062	B	0.27608	0.081	T	0.07046	-1.0793	10	0.07175	T	0.84	.	7.8982	0.29719	0.1799:0.0:0.82:0.0	.	667	Q15027	ACAP1_HUMAN	E	667	ENSP00000158762:G667E	ENSP00000158762:G667E	G	+	2	0	ACAP1	7194208	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.451000	0.66632	1.461000	0.47929	-0.404000	0.06349	GGG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.632	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	protein_coding	OTTHUMT00000220049.4	G	NM_014716	-		7253484	1	no_errors	ENST00000158762	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7253484	G	A	7253484	3	1	205	1	0	0	0	0	1	0	0	0	118	1232	43	2	2078	2	ACAP1	17	7253484	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	6339485	7253484	73941726	354	16875											
MYH1	4619	genome.wustl.edu	37	chr17	10398388	10398388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgggcgctggtgtcctgttCcttcttcagctcctcagcca	10	14	3	0	rs141339850		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:10398388C>T	ENST00000226207.5	-	37	5420	c.5326G>A	c.(5326-5328)Gaa>Aaa	p.E1776K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1776					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1776K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGTCCTGTTCCTTCTTCAGC	0.507																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000109061						165	159	161					17																	10398388		2203	4300	6503	MYH1	SO:0001583	missense	0			-	HGNC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5326G>A	17.37:g.10398388C>T	ENSP00000226207:p.Glu1776Lys	Somatic	0	132	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	133	23.86	Q14CA4|Q9Y622	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1776K	ENST00000226207.5	37	c.5326	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.709374	0.96821	.	.	ENSG00000109061	ENST00000226207	D	0.90504	-2.68	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.43579	U	0.000557	D	0.96778	0.8948	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.97294	0.9926	10	0.59425	D	0.04	.	19.2282	0.93825	0.0:1.0:0.0:0.0	.	1776	P12882	MYH1_HUMAN	K	1776	ENSP00000226207:E1776K	ENSP00000226207:E1776K	E	-	1	0	MYH1	10339113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.748000	0.85085	2.616000	0.88540	0.561000	0.74099	GAA	-	pfam_Myosin_tail		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	C	NM_005963	rs141339850		10398388	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10398388	C	T	10398388	3	4	205	1	0	0	0	0	1	0	0	0	10031	864	30	2	509	2	MYH1	17	10398388	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3144904	10398388	70796822	355	16876											
CCDC144A	9720	genome.wustl.edu	37	chr17	16593774	16593774	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggtctccgaagccggcagtCtacgccacgaggaagacccc	13	15	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:16593774C>T	ENST00000360524.8	+	1	136	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CCDC144A_ENST00000340621.5_Silent_p.V20V|CCDC144A_ENST00000456009.1_Silent_p.V20V|RP11-219A15.1_ENST00000448331.3_Silent_p.V20V|CCDC144A_ENST00000436374.1_3'UTR|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000443444.2_Silent_p.V20V|CCDC144A_ENST00000399273.1_Silent_p.V20V	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	20																	AGCCGGCAGTCTACGCCACGA	0.667																																																	0								ENSG00000170160						23	26	25					17																	16593774		2202	4300	6502	CCDC144A	SO:0001819	synonymous_variant	0			-	HGNC	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.60C>T	17.37:g.16593774C>T		Somatic	0	91	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	109	10.66	O60311|Q6ZU57	Silent	SNP							pfam_DUF3496	p.V20	ENST00000360524.8	37	c.60	CCDS45621.1	17																																																																																			-	NULL		0.667	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	protein_coding	OTTHUMT00000444093.1	C		-		16593774	1	no_errors	ENST00000360524	ensembl	human	known	74_37	silent	SNP	0.006	T	T	16593774	C	T	16593774	2	4	205	1	0	0	0	0	0	0	0	1	2779	900	32	2		2	CCDC144A	17	16593774	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	6195386	16593774	64601436	356	16877											
CCDC144A	9720	genome.wustl.edu	37	chr17	16638166	16638166	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctgtgaaagaaaagaatGataaccttcaaaaaattata	7	4	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:16638166G>A	ENST00000360524.8	+	12	2657	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N	CCDC144A_ENST00000456009.1_Missense_Mutation_p.D581N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D861N|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D861N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D861N	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	861																	AGAAAAGAATGATAACCTTCA	0.323																																																	0								ENSG00000170160						5	5	5					17																	16638166		1670	3759	5429	CCDC144A	SO:0001583	missense	0			-	HGNC	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2581G>A	17.37:g.16638166G>A	ENSP00000353717:p.Asp861Asn	Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	16.67	O60311|Q6ZU57	Missense_Mutation	SNP							pfam_DUF3496	p.D861N	ENST00000360524.8	37	c.2581	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.91|11.91	1.780373|1.780373	0.31502|0.31502	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009|ENST00000328495	T;T;T;T|.	0.17054|.	2.3;2.3;2.3;2.3|.	2.08|2.08	2.08|2.08	0.27032|0.27032	.|.	.|.	.|.	.|.	.|.	T|T	0.42177|0.42177	0.1191|0.1191	L|L	0.49126|0.49126	1.545|1.545	0.20489|0.20489	N|N	0.999897|0.999897	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.75484|.	0.986;0.946|.	T|T	0.27806|0.27806	-1.0063|-1.0063	9|5	0.66056|.	D|.	0.02|.	.|.	9.8235|9.8235	0.40896|0.40896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	581;861|.	A2RUR9-3;A2RUR9|.	.;C144A_HUMAN|.	N|I	861;861;861;581|344	ENSP00000382215:D861N;ENSP00000439262:D861N;ENSP00000353717:D861N;ENSP00000394201:D581N|.	ENSP00000353717:D861N|.	D|M	+|+	1|3	0|0	CCDC144A|CCDC144A	16578891|16578891	1.000000|1.000000	0.71417|0.71417	0.259000|0.259000	0.24435|0.24435	0.023000|0.023000	0.10783|0.10783	5.407000|5.407000	0.66363|0.66363	1.153000|1.153000	0.42468|0.42468	0.393000|0.393000	0.25936|0.25936	GAT|ATG	-	NULL		0.323	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	protein_coding	OTTHUMT00000444093.1	G		-		16638166	1	no_errors	ENST00000360524	ensembl	human	known	74_37	missense	SNP	0.986	A	A	16638166	G	A	16638166	3	1	205	1	0	0	0	0	1	0	0	0	2779	1290	45	2	2627	2	CCDC144A	17	16638166	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	44392	16638166	64557044	357	16878											
MYO15A	51168	genome.wustl.edu	37	chr17	18059639	18059639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtagatgacttcatcttgGagctgaagaaggtcaggatc	13	6	3	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:18059639G>A	ENST00000205890.5	+	48	8928	c.8590G>A	c.(8590-8592)Gag>Aag	p.E2864K	MYO15A_ENST00000418233.3_Missense_Mutation_p.E128K	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2864	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCATCTTGGAGCTGAAGAA	0.547																																																	0								ENSG00000091536						72	70	71					17																	18059639		1972	4159	6131	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8590G>A	17.37:g.18059639G>A	ENSP00000205890:p.Glu2864Lys	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B4DFC7	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2864K	ENST00000205890.5	37	c.8590	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758906	0.49468	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.89939	-2.59	4.41	4.41	0.53225	.	.	.	.	.	D	0.93003	0.7773	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.994;0.987;0.999	P;P;D	0.80764	0.856;0.904;0.994	D	0.92874	0.6317	9	0.44086	T	0.13	.	15.9789	0.80091	0.0:0.0:1.0:0.0	.	63;128;2864	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	K	2864;63	ENSP00000205890:E2864K	ENSP00000205890:E2864K	E	+	1	0	MYO15A	18000364	1.000000	0.71417	0.998000	0.56505	0.627000	0.37826	9.402000	0.97298	2.005000	0.58758	0.462000	0.41574	GAG	-	NULL		0.547	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	G	NM_016239	-		18059639	1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18059639	G	A	18059639	3	1	205	1	0	0	0	0	1	0	0	0	10065	1175	41	2	8772	2	MYO15A	17	18059639	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1421473	18059639	63135571	358	16879											
CCDC144B	284047	genome.wustl.edu	37	chr17	18511275	18511275	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctgatgtcagctccaagtCttgttctgctgcaaaatcca	7	12	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:18511275C>A	ENST00000442583.1	-	0	0				RN7SL639P_ENST00000578843.1_RNA			Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						AGCTCCAAGTCTTGTTCTGCT	0.323																																																	0								ENSG00000154874						31	28	29					17																	18511275		1786	4031	5817	CCDC144B			0			-	HGNC	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"coiled-coil domain containing 144B"			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18511275C>A		Somatic	0	173	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	208	14.40	Q6P5Q3|Q8N200	RNA	SNP							-	NULL	ENST00000442583.1	37	NULL		17																																																																																			-	-		0.323	CCDC144B-006	KNOWN	basic	processed_transcript	CCDC144B	pseudogene	OTTHUMT00000132102.1	C	NM_182568	-		18511275	-1	no_errors	ENST00000455629	ensembl	human	known	74_37	rna	SNP	0.012	A	A	18511275	C	A	18511275	1	1	205	0	1	0	0	0	0	0	0	0	2780	913	32	3		3	CCDC144B	17	18511275	RNA	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	451636	18511275	62683935	359	16880											
NOS2	4843	genome.wustl.edu	37	chr17	26107795	26107795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctcagcctacttacttGggatgttccatggccacctc	7	16	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:26107795G>A	ENST00000313735.6	-	9	1235	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	334					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTACTTACTTGGGATGTTCCA	0.587																																																	0								ENSG00000007171						72	63	66					17																	26107795		2203	4300	6503	NOS2	SO:0001819	synonymous_variant	0			-	HGNC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1002C>T	17.37:g.26107795G>A		Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	53	24.29	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P334	ENST00000313735.6	37	c.1002	CCDS11223.1	17																																																																																			-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.587	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	protein_coding	OTTHUMT00000255597.1	G	NM_000625	-		26107795	-1	no_errors	ENST00000313735	ensembl	human	known	74_37	silent	SNP	1.000	A	A	26107795	G	A	26107795	2	1	205	1	0	0	0	0	0	0	0	1	10545	1335	47	2		2	NOS2	17	26107795	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7596520	26107795	55087415	360	16881											
MYO18A	399687	genome.wustl.edu	37	chr17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgcttcttctccagttCgtggttgcggacctgctggc	11	14	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1455					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCTCCAGTTCGTGGTTGCGG	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0								ENSG00000196535						31	35	34					17																	27423801		2051	4212	6263	MYO18A	SO:0001583	missense	0			-	HGNC	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4363G>A	17.37:g.27423801C>T	ENSP00000437073:p.Glu1455Lys	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.E1455K	ENST00000527372.1	37	c.4363	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830253	0.91036	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.53	5.53	0.82687	Myosin tail (1);	0.043406	0.85682	D	0.000000	T	0.47358	0.1441	L	0.58810	1.83	0.53688	D	0.999975	D;P;P;P;D	0.63046	0.992;0.948;0.948;0.948;0.967	P;B;B;B;B	0.54270	0.747;0.176;0.24;0.176;0.353	T	0.40515	-0.9559	10	0.54805	T	0.06	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1124;1067;1455;1455;1455	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1455;1455;1455;1455;1455;351;351;1067	ENSP00000346291:E1455K;ENSP00000435932:E1455K;ENSP00000434228:E1455K;ENSP00000437073:E1455K	ENSP00000346291:E1455K	E	-	1	0	MYO18A	24447927	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.453000	0.80700	2.606000	0.88127	0.591000	0.81541	GAA	-	pfam_Myosin_tail		0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	protein_coding	OTTHUMT00000389396.1	C	NM_078471	-		27423801	-1	no_errors	ENST00000354329	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27423801	C	T	27423801	3	4	205	1	0	0	0	0	1	0	0	0	10067	893	31	1	1861	1	MYO18A	17	27423801	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1316006	27423801	53771409	361	16882											
EFCAB5	374786	genome.wustl.edu	37	chr17	28405481	28405481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagacaagtggggtgtccCtagagccggtgtatagtgag	16	7	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:28405481C>T	ENST00000394835.3	+	15	3178	c.2986C>T	c.(2986-2988)Cta>Tta	p.L996L	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.L872L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	996							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGGGTGTCCCTAGAGCCGGT	0.483																																																	0								ENSG00000176927						46	46	46					17																	28405481		1950	4144	6094	EFCAB5	SO:0001819	synonymous_variant	0			-	HGNC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2986C>T	17.37:g.28405481C>T		Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP							pfscan_EF_hand_dom	p.L996	ENST00000394835.3	37	c.2986	CCDS11254.2	17																																																																																			-	NULL		0.483	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	protein_coding	OTTHUMT00000256120.4	C	NM_198529	-		28405481	1	no_errors	ENST00000394835	ensembl	human	known	74_37	silent	SNP	0.263	T	T	28405481	C	T	28405481	2	4	205	1	0	0	0	0	0	0	0	1	4940	680	24	2		2	EFCAB5	17	28405481	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	981680	28405481	52789729	362	16883											
NF1	4763	genome.wustl.edu	37	chr17	29576111	29576111	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaattcccccctcaacttCgaagtgtgtgccactgttta	7	13	1	1	rs137854560		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:29576111C>T	ENST00000358273.4	+	30	4467	c.4084C>T	c.(4084-4086)Cga>Tga	p.R1362*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1362*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1362	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.R1362*(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)		CCCTCAACTTCGAAGTGTGTG	0.403			"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)																													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(10)|autonomic_ganglia(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	GRCh37	CM971046	NF1	M	rs137854560	ENSG00000196712						171	155	160					17																	29576111		2203	4300	6503	NF1	SO:0001587	stop_gained	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.4084C>T	17.37:g.29576111C>T	ENSP00000351015:p.Arg1362*	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R1362*	ENST00000358273.4	37	c.4084	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.889364	0.99704	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.74	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5214	0.84318	0.1319:0.8681:0.0:0.0	.	.	.	.	X	1362;1362;1028	.	ENSP00000348498:R1362X	R	+	1	2	NF1	26600237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.630000	0.54273	1.551000	0.49450	0.563000	0.77884	CGA	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP		0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	rs137854560		29576111	1	no_errors	ENST00000358273	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	29576111	C	T	29576111	4	4	205	1	0	0	0	0	0	1	0	0	10358	876	31	1	4263	1	NF1	17	29576111	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1170630	29576111	51619099	363	16884											
RAB11FIP4	84440	genome.wustl.edu	37	chr17	29844724	29844724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctcatccccagggaacCcggcttttttcccgaggacg	11	15	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:29844724C>T	ENST00000325874.8	+	4	621	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.P29L|RN7SL45P_ENST00000578050.1_RNA	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	131	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCCAGGGAACCCGGCTTTTTT	0.617																																																	0								ENSG00000131242						27	25	26					17																	29844724		2202	4298	6500	RAB11FIP4	SO:0001583	missense	0			-	HGNC	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.392C>T	17.37:g.29844724C>T	ENSP00000312837:p.Pro131Leu	Somatic	0	64	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	69	20.69	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom	p.P131L	ENST00000325874.8	37	c.392	CCDS11267.1	17	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738692	0.30774	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.54	5.54	0.83059	.	0.390489	0.26939	N	0.021732	T	0.37544	0.1007	L	0.34521	1.04	0.24412	N	0.994654	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.12604	-1.0541	8	.	.	.	-12.5249	14.9838	0.71330	0.0:1.0:0.0:0.0	.	29;131	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	L	131	.	.	P	+	2	0	RAB11FIP4	26868844	0.109000	0.22037	0.671000	0.29857	0.747000	0.42532	2.076000	0.41548	2.616000	0.88540	0.505000	0.49811	CCC	-	NULL		0.617	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP4	protein_coding	OTTHUMT00000256195.2	C	NM_032932	-		29844724	1	no_errors	ENST00000325874	ensembl	human	known	74_37	missense	SNP	0.313	T	T	29844724	C	T	29844724	3	4	205	1	0	0	0	0	1	0	0	0	12904	623	22	2	406	2	RAB11FIP4	17	29844724	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	268613	29844724	51350486	364	16885											
UTP6	55813	genome.wustl.edu	37	chr17	30202316	30202316	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcagggctctttgactcGatcagcacctgcagcttcag	10	12	4	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:30202316G>A	ENST00000261708.4	-	14	1379	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	414					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCTTTGACTCGATCAGCACCT	0.468																																																	0								ENSG00000108651						88	86	87					17																	30202316		2203	4300	6503	UTP6	SO:0001819	synonymous_variant	0			-	HGNC	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1242C>T	17.37:g.30202316G>A		Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	84	13.40	Q8IX96|Q96BL2|Q9NQ91	Silent	SNP							pfam_U3_snoRNA_assoc-6,smart_HAT	p.I414	ENST00000261708.4	37	c.1242	CCDS11269.1	17																																																																																			-	NULL		0.468	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP6	protein_coding	OTTHUMT00000256265.2	G	NM_018428	-		30202316	-1	no_errors	ENST00000261708	ensembl	human	known	74_37	silent	SNP	0.009	A	A	30202316	G	A	30202316	2	1	205	1	0	0	0	0	0	0	0	1	17109	1048	37	1		1	UTP6	17	30202316	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	357592	30202316	50992894	365	16886											
GPR179	440435	genome.wustl.edu	37	chr17	36499244	36499244	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaaagccctgtacacTcttgggtccccctcggccac	9	17	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:36499244T>G	ENST00000342292.4	-	1	449	c.429A>C	c.(427-429)agA>agC	p.R143S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	143					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCTGTACACTCTTGGGTCCC	0.627																																																	0								ENSG00000188888						52	55	54					17																	36499244		2104	4218	6322	GPR179	SO:0001583	missense	0			-	HGNC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.429A>C	17.37:g.36499244T>G	ENSP00000345060:p.Arg143Ser	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	59	13.24		Missense_Mutation	SNP							pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.R143S	ENST00000342292.4	37	c.429	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	T	3.964	-0.009825	0.07727	.	.	ENSG00000188888	ENST00000342292	T	0.77750	-1.12	5.67	0.0208	0.14126	.	0.466449	0.22036	N	0.065531	T	0.60287	0.2257	L	0.43152	1.355	0.09310	N	1	P	0.44734	0.842	B	0.36030	0.216	T	0.53676	-0.8405	10	0.23302	T	0.38	-11.7207	6.1618	0.20368	0.0:0.3868:0.1293:0.4839	.	143	Q6PRD1	GP179_HUMAN	S	143	ENSP00000345060:R143S	ENSP00000345060:R143S	R	-	3	2	GPR179	33752770	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	-1.174000	0.03105	-0.102000	0.12197	-0.766000	0.03442	AGA	-	NULL		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	protein_coding	OTTHUMT00000255329.2	T		-		36499244	-1	no_errors	ENST00000342292	ensembl	human	known	74_37	missense	SNP	0.000	G	G	36499244	T	G	36499244	3	3	205	1	0	0	0	0	1	0	0	0	6676	1548	54	5	6718	5	GPR179	17	36499244	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	6296928	36499244	44695966	366	16887											
KRT33A	3883	genome.wustl.edu	37	chr17	39503390	39503390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactcctggtctcattcaGgacctggttcaggtccacag	10	13	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:39503390G>A	ENST00000007735.3	-	4	717	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	225	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GTCTCATTCAGGACCTGGTTC	0.602																																																	0								ENSG00000006059						86	78	81					17																	39503390		2203	4300	6503	KRT33A	SO:0001819	synonymous_variant	0			-	HGNC	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.673C>T	17.37:g.39503390G>A		Somatic	0	81	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	108	17.42	B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L225	ENST00000007735.3	37	c.673	CCDS11388.1	17																																																																																			-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.602	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	protein_coding	OTTHUMT00000257295.1	G	NM_004138	-		39503390	-1	no_errors	ENST00000007735	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39503390	G	A	39503390	2	1	205	1	0	0	0	0	0	0	0	1	8471	991	35	2		2	KRT33A	17	39503390	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3004146	39503390	41691820	367	16888											
CACNA1G	8913	genome.wustl.edu	37	chr17	48695414	48695414	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccttttttccaggtgggGaacctgggacttctcttcat	9	11	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:48695414G>A	ENST00000359106.5	+	31	5232	c.5232G>A	c.(5230-5232)ggG>ggA	p.G1744G	CACNA1G_ENST00000507336.1_Silent_p.G1733G|CACNA1G_ENST00000358244.5_Silent_p.G1710G|CACNA1G_ENST00000354983.4_Silent_p.G1710G|CACNA1G_ENST00000510115.1_Silent_p.G1710G|CACNA1G_ENST00000514181.1_Silent_p.G1719G|CACNA1G_ENST00000515411.1_Silent_p.G1726G|CACNA1G_ENST00000514079.1_Silent_p.G1751G|CACNA1G_ENST00000514717.1_Silent_p.G1687G|CACNA1G_ENST00000505165.1_Silent_p.G1744G|CACNA1G_ENST00000512389.1_Silent_p.G1733G|CACNA1G_ENST00000513964.1_Silent_p.G1699G|CACNA1G_ENST00000507609.1_Silent_p.G1737G|CACNA1G_ENST00000513689.2_Silent_p.G1699G|CACNA1G_ENST00000442258.2_Silent_p.G1703G|CACNA1G_ENST00000507510.2_Silent_p.G1744G|CACNA1G_ENST00000502264.1_Silent_p.G1721G|CACNA1G_ENST00000360761.4_Silent_p.G1721G|CACNA1G_ENST00000515165.1_Silent_p.G1744G|CACNA1G_ENST00000510366.1_Silent_p.G1692G|CACNA1G_ENST00000503485.1_Silent_p.G1710G|CACNA1G_ENST00000429973.2_Silent_p.G1726G|CACNA1G_ENST00000352832.5_Silent_p.G1710G|CACNA1G_ENST00000515765.1_Silent_p.G1733G|CACNA1G_ENST00000507896.1_Silent_p.G1733G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1744					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)	TCCAGGTGGGGAACCTGGGAC	0.557																																																	0								ENSG00000006283						80	78	79					17																	48695414		1853	4105	5958	CACNA1G	SO:0001819	synonymous_variant	0			-	HGNC	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.5232G>A	17.37:g.48695414G>A		Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	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							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G1744	ENST00000359106.5	37	c.5232	CCDS45730.1	17																																																																																			-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.557	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	G	NM_018896	-		48695414	1	no_errors	ENST00000359106	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48695414	G	A	48695414	2	1	205	1	0	0	0	0	0	0	0	1	2546	1161	41	2		2	CACNA1G	17	48695414	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	9192024	48695414	32499796	368	16889											
ABCC3	8714	genome.wustl.edu	37	chr17	48745306	48745306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggcctttgtgtctgtgtCcttgtttaatatcttaagac	9	7	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:48745306C>T	ENST00000285238.8	+	13	1798	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	573	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	GTGTCTGTGTCCTTGTTTAAT	0.542																																																	0								ENSG00000108846						198	165	176					17																	48745306		2203	4300	6503	ABCC3	SO:0001583	missense	0			-	HGNC	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.1718C>T	17.37:g.48745306C>T	ENSP00000285238:p.Ser573Phe	Somatic	0	28	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.S573F	ENST00000285238.8	37	c.1718	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120419	0.77323	.	.	ENSG00000108846	ENST00000285238	D	0.90563	-2.69	4.32	4.32	0.51571	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.072454	0.56097	D	0.000023	D	0.96895	0.8986	H	0.96861	3.895	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	D	0.98411	1.0572	10	0.87932	D	0	-23.7676	17.385	0.87413	0.0:1.0:0.0:0.0	.	573	O15438	MRP3_HUMAN	F	573	ENSP00000285238:S573F	ENSP00000285238:S573F	S	+	2	0	ABCC3	46100305	1.000000	0.71417	0.989000	0.46669	0.527000	0.34593	7.651000	0.83577	2.406000	0.81754	0.591000	0.81541	TCC	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.542	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	C	NM_020038	-		48745306	1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48745306	C	T	48745306	3	4	205	1	0	0	0	0	1	0	0	0	54	855	30	2	1852	2	ABCC3	17	48745306	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	49892	48745306	32449904	369	16890											
SFRS1	6426	genome.wustl.edu	37	chr17	56084431	56084431	+	Missense_Mutation	SNP	A	A	G													tggttcggatgtctggaggtAagttacccacgtagatgcgg							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:56084431A>G	ENST00000258962.4	-	1	276	c.68T>C	c.(67-69)tTa>tCa	p.L23S	SRSF1_ENST00000584773.1_Missense_Mutation_p.L23S|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.L23S|SRSF1_ENST00000585096.1_Missense_Mutation_p.L23S|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	23	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGGAGGTAAGTTACCCAC	0.587																																																	0								ENSG00000136450						217	161	180					17																	56084431		2203	4300	6503	SRSF1	SO:0001583	missense	0			-	HGNC		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.68T>C	17.37:g.56084431A>G	ENSP00000258962:p.Leu23Ser	Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L23S	ENST00000258962.4	37	c.68	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796828	0.50208	.	.	ENSG00000136450	ENST00000258962	T	0.21734	1.99	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.65037	0.2653	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79617	-0.1729	10	0.87932	D	0	.	15.6847	0.77400	1.0:0.0:0.0:0.0	.	55;23	Q59FA2;Q07955	.;SRSF1_HUMAN	S	23	ENSP00000258962:L23S	ENSP00000258962:L23S	L	-	2	0	SRSF1	53439430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.353000	0.90077	2.343000	0.79666	0.533000	0.62120	TTA	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.587	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	protein_coding	OTTHUMT00000443335.1	A	NM_006924	-		56084431	-1	no_errors	ENST00000258962	ensembl	human	known	74_37	missense	SNP	1.000	G	G	56084431	A	G	56084431	3	3	205	1	0	0	0	0	1	0	0	0	14173	372	13	5	748	5	SFRS1	17	56084431	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	7339125	56084431	25110779	370	16891	483	2									
SFRS1	6426	genome.wustl.edu	37	chr17	56084432	56084432	+	Missense_Mutation	SNP	A	A	T													ggttcggatgtctggaggtaAgttacccacgtagatgcggc							TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:56084432A>T	ENST00000258962.4	-	1	275	c.67T>A	c.(67-69)Tta>Ata	p.L23I	SRSF1_ENST00000584773.1_Missense_Mutation_p.L23I|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.L23I|SRSF1_ENST00000585096.1_Missense_Mutation_p.L23I|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	23	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGGAGGTAAGTTACCCACG	0.587																																																	0								ENSG00000136450						218	162	181					17																	56084432		2203	4300	6503	SRSF1	SO:0001583	missense	0			-	HGNC		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.67T>A	17.37:g.56084432A>T	ENSP00000258962:p.Leu23Ile	Somatic	0	42	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	62	20.51	B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L23I	ENST00000258962.4	37	c.67	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751714	0.49362	.	.	ENSG00000136450	ENST00000258962	T	0.17054	2.3	6.11	2.59	0.31030	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.28134	0.0694	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01715	-1.1289	10	0.66056	D	0.02	.	6.3574	0.21408	0.4911:0.0:0.5089:0.0	.	55;23	Q59FA2;Q07955	.;SRSF1_HUMAN	I	23	ENSP00000258962:L23I	ENSP00000258962:L23I	L	-	1	2	SRSF1	53439431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.610000	0.54125	0.566000	0.29273	0.533000	0.62120	TTA	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.587	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	protein_coding	OTTHUMT00000443335.1	A	NM_006924	-		56084432	-1	no_errors	ENST00000258962	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56084432	A	T	56084432	3	4	205	1	0	0	0	0	1	0	0	0	14173	69	3	5	749	5	SFRS1	17	56084432	Missense_Mutation	SNP	A	TCGA-QQ-A8VG-01A-11D-A37C-09	1	56084432	25110778	371	16892	483	2									
KPNA2	3838	genome.wustl.edu	37	chr17	66041988	66041988	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaaaccatgaaaatgagtCtgtgtataaggcttcgttaa	8	6	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:66041988C>T	ENST00000537025.2	+	10	2068	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.S483F			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	483					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAAATGAGTCTGTGTATAAG	0.348																																																	0								ENSG00000182481						110	117	115					17																	66041988		2203	4295	6498	KPNA2	SO:0001583	missense	0			-	HGNC	U09559	CCDS32713.1	17q24.2	2013-02-14						"Importins", "Armadillo repeat containing"	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1448C>T	17.37:g.66041988C>T	ENSP00000438483:p.Ser483Phe	Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.44	B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP							pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.S483F	ENST00000537025.2	37	c.1448	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006515	0.35415	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.63580	-0.05;-0.05	5.17	2.9	0.33743	Armadillo-like helical (1);Armadillo-type fold (1);	0.697426	0.13187	U	0.407027	T	0.50769	0.1635	L	0.59436	1.845	0.32262	N	0.570039	B	0.28324	0.207	B	0.21546	0.035	T	0.60752	-0.7201	10	0.87932	D	0	.	1.6529	0.02775	0.3993:0.3298:0.147:0.1239	.	483	P52292	IMA2_HUMAN	F	483	ENSP00000332455:S483F;ENSP00000438483:S483F	ENSP00000332455:S483F	S	+	2	0	KPNA2	63472450	0.661000	0.27430	1.000000	0.80357	0.981000	0.71138	0.827000	0.27421	1.139000	0.42245	0.461000	0.40582	TCT	-	superfamily_ARM-type_fold		0.348	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	protein_coding	OTTHUMT00000448111.1	C	NM_002266	-		66041988	1	no_errors	ENST00000330459	ensembl	human	known	74_37	missense	SNP	0.849	T	T	66041988	C	T	66041988	3	4	205	1	0	0	0	0	1	0	0	0	8432	913	32	2	1482	2	KPNA2	17	66041988	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	9957556	66041988	15153222	372	16893											
KIAA0195	9772	genome.wustl.edu	37	chr17	73494563	73494563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggtttgaggactttgCcaatggactgctgtcggctc	13	10	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:73494563C>T	ENST00000314256.7	+	29	4071	c.3677C>T	c.(3676-3678)gCc>gTc	p.A1226V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1236V|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A877V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1226						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGGACTTTGCCAATGGACTG	0.642																																																	0								ENSG00000177728						61	55	57					17																	73494563		2203	4300	6503	KIAA0195	SO:0001583	missense	0			-	HGNC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3677C>T	17.37:g.73494563C>T	ENSP00000313885:p.Ala1226Val	Somatic	0	31	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	O75536|Q86XF1	Missense_Mutation	SNP							pfam_ATPase_P-typ_cation-transptr_C	p.A1226V	ENST00000314256.7	37	c.3677	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205006	0.58234	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.88124	-2.34;-2.34	5.07	5.07	0.68467	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.065918	0.64402	D	0.000008	T	0.73345	0.3575	N	0.08118	0	0.41578	D	0.988722	B;B;P;B	0.39665	0.273;0.275;0.682;0.322	B;B;B;B	0.34824	0.134;0.12;0.158;0.19	T	0.74954	-0.3488	10	0.22109	T	0.4	-24.8984	15.5517	0.76158	0.0:0.8619:0.1381:0.0	.	1236;1236;1226;1226	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	V	1226;1236	ENSP00000313885:A1226V;ENSP00000364397:A1236V	ENSP00000313885:A1226V	A	+	2	0	KIAA0195	71006158	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.376000	0.59556	2.346000	0.79739	0.467000	0.42956	GCC	-	pfam_ATPase_P-typ_cation-transptr_C		0.642	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	protein_coding	OTTHUMT00000447303.1	C	NM_014738	-		73494563	1	no_errors	ENST00000314256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73494563	C	T	73494563	3	4	205	1	0	0	0	0	1	0	0	0	8162	739	26	2	3787	2	KIAA0195	17	73494563	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7452575	73494563	7700647	373	16894											
DNAH17	8632	genome.wustl.edu	37	chr17	76482056	76482056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttacctgcagtgggacatCgggatccagctcaaaggagg	14	9	1	0	rs201273328		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:76482056C>T	ENST00000585328.1	-	46	7370	c.7246G>A	c.(7246-7248)Gat>Aat	p.D2416N	DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.D2407N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2407	AAA 3. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTGGGACATCGGGATCCAGC	0.537													C|||	1	0.000199681	0	0	5008	,	,		18872	0		0.001	False		,,,				2504	0																0								ENSG00000187775	C	ASN/ASP	0,3942		0,0,1971	75	73	73		7261	4.3	0	17		73	9,8287		0,9,4139	yes	missense	DNAH17	NM_173628.3	23	0,9,6110	TT,TC,CC		0.1085,0.0,0.0735		2421/4463	76482056	9,12229	1971	4148	6119	DNAH17	SO:0001583	missense	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7246G>A	17.37:g.76482056C>T	ENSP00000465516:p.Asp2416Asn	Somatic	0	51	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	62	10.14	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.D2407N	ENST00000585328.1	37	c.7219		17	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267633	0.59540	0.0	0.001085	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39056	1.1	4.29	4.29	0.51040	.	.	.	.	.	T	0.52386	0.1731	L	0.49640	1.575	0.49299	D	0.99977	.	.	.	.	.	.	T	0.52631	-0.8550	7	0.44086	T	0.13	.	16.93	0.86188	0.0:1.0:0.0:0.0	.	.	.	.	N	2416;2407	ENSP00000374490:D2407N	ENSP00000300671:D2416N	D	-	1	0	DNAH17	73993651	1.000000	0.71417	0.040000	0.18447	0.080000	0.17528	7.394000	0.79862	2.232000	0.73038	0.462000	0.41574	GAT	-	superfamily_P-loop_NTPase		0.537	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	C	NM_173628	rs201273328		76482056	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	0.990	T	T	76482056	C	T	76482056	3	4	205	1	0	0	0	0	1	0	0	0	4603	884	31	1	6271	1	DNAH17	17	76482056	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2987493	76482056	4713154	374	16895											
CBX8	57332	genome.wustl.edu	37	chr17	77769185	77769185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctctgcgcggcaggtgCtgctggtgctggtgctgctc	18	12	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:77769185C>T	ENST00000269385.4	-	5	536	c.419G>A	c.(418-420)aGc>aAc	p.S140N	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	140					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGGCAGGTGCTGCTGGTGCT	0.711																																																	0								ENSG00000141570						23	21	21					17																	77769185		2202	4298	6500	CBX8	SO:0001583	missense	0			-	HGNC	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.419G>A	17.37:g.77769185C>T	ENSP00000269385:p.Ser140Asn	Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	Q96H39|Q9NR07	Missense_Mutation	SNP							pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.S140N	ENST00000269385.4	37	c.419	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204170	0.38905	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.35236	1.57;1.32;1.57	4.66	4.66	0.58398	.	0.879904	0.09848	N	0.747941	T	0.22666	0.0547	N	0.19112	0.55	0.24283	N	0.995192	B	0.30326	0.276	B	0.28553	0.091	T	0.10428	-1.0630	10	0.30078	T	0.28	-18.7718	6.7362	0.23411	0.0:0.7211:0.1819:0.097	.	140	Q9HC52	CBX8_HUMAN	N	140;115;130	ENSP00000269385:S140N;ENSP00000408753:S115N;ENSP00000405058:S130N	ENSP00000269385:S140N	S	-	2	0	CBX8	75383780	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	1.168000	0.31859	2.110000	0.64415	0.462000	0.41574	AGC	-	NULL		0.711	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	protein_coding	OTTHUMT00000318011.1	C	NM_020649	-		77769185	-1	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77769185	C	T	77769185	3	4	205	1	0	0	0	0	1	0	0	0	2726	796	28	2	729	2	CBX8	17	77769185	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1287129	77769185	3426025	375	16896											
TSPAN10	83882	genome.wustl.edu	37	chr17	79612351	79612351	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagaccccatgctggggCtggcactgggagggctggtg	18	12	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr17:79612351C>T	ENST00000572675.1	+	0	370				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CATGCTGGGGCTGGCACTGGG	0.692																																																	0								ENSG00000182612						25	32	30					17																	79612351		1944	4149	6093	TSPAN10			0			-	HGNC	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612351C>T		Somatic	0	103	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	161	20.30	Q8N548	Silent	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L124	ENST00000572675.1	37	c.370		17																																																																																			-	pfam_Tetraspanin/Peripherin		0.692	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	TSPAN10	polymorphic_pseudogene	OTTHUMT00000440313.1	C	NM_031945	-		79612351	1	no_errors	ENST00000328585	ensembl	human	known	74_37	silent	SNP	0.084	T	T	79612351	C	T	79612351	1	4	205	0	1	0	0	0	0	0	0	0	16641	796	28	2		2	TSPAN10	17	79612351	RNA	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1843166	79612351	1582859	376	16897											
RAB31	11031	genome.wustl.edu	37	chr18	9815151	9815151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaatgggtcaaggagctGaaagaacatggtccagaaaa	12	5	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr18:9815151G>A	ENST00000578921.1	+	5	553	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	103					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TCAAGGAGCTGAAAGAACATG	0.368																																																	0								ENSG00000168461						72	74	73					18																	9815151		1922	4102	6024	RAB31	SO:0001819	synonymous_variant	0			-	HGNC	U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"RAB, member RAS oncogene"	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.312G>A	18.37:g.9815151G>A		Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.00	B2RBT7|Q15770|Q9HC00	Silent	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L104	ENST00000578921.1	37	c.312	CCDS45826.1	18																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.368	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	protein_coding	OTTHUMT00000442280.3	G		-		9815151	1	no_errors	ENST00000578921	ensembl	human	known	74_37	silent	SNP	1.000	A	A	9815151	G	A	9815151	2	1	205	1	0	0	0	0	0	0	0	1	12928	1277	45	2		2	RAB31	18	9815151	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		9815151	68262097	377	16898											
DSC3	1825	genome.wustl.edu	37	chr18	28588263	28588263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccatttctattttcggGgtcatatgccttatagccgt	8	9	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr18:28588263G>A	ENST00000360428.4	-	10	1572	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S	DSC3_ENST00000434452.1_Missense_Mutation_p.P498S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	498	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTATTTTCGGGGTCATATGCC	0.368																																																	0								ENSG00000134762						81	73	76					18																	28588263		2203	4300	6503	DSC3	SO:0001583	missense	0			-	HGNC	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1492C>T	18.37:g.28588263G>A	ENSP00000353608:p.Pro498Ser	Somatic	0	54	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	56	23.29	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.P498S	ENST00000360428.4	37	c.1492	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268671	0.59540	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.61980	0.06;0.06	5.34	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.256960	0.20591	N	0.089355	T	0.80188	0.4577	M	0.87097	2.86	0.80722	D	1	D;D	0.67145	0.977;0.996	D;D	0.67900	0.936;0.954	D	0.84908	0.0846	10	0.87932	D	0	.	14.7792	0.69754	0.0:0.0:0.7397:0.2603	.	498;498	Q14574;Q14574-2	DSC3_HUMAN;.	S	498	ENSP00000353608:P498S;ENSP00000392068:P498S	ENSP00000353608:P498S	P	-	1	0	DSC3	26842261	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	2.954000	0.49113	1.610000	0.50200	0.650000	0.86243	CCC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	protein_coding	OTTHUMT00000447384.1	G	NM_001941, NM_024423	-		28588263	-1	no_errors	ENST00000360428	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28588263	G	A	28588263	3	1	205	1	0	0	0	0	1	0	0	0	4769	1232	43	2	1257	2	DSC3	18	28588263	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	18773112	28588263	49488985	378	16899											
ASXL3	80816	genome.wustl.edu	37	chr18	31324429	31324429	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagatcacagttccactttCattgctgcttcggcagcaaa	7	11	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr18:31324429C>T	ENST00000269197.5	+	12	4617	c.4617C>T	c.(4615-4617)ttC>ttT	p.F1539F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1539					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						GTTCCACTTTCATTGCTGCTT	0.507											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000141431						35	37	36					18																	31324429		2080	4214	6294	ASXL3	SO:0001819	synonymous_variant	0			-	HGNC	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.4617C>T	18.37:g.31324429C>T		Somatic	0	42	0	823	0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP							superfamily_Znf_FYVE_PHD	p.F1539	ENST00000269197.5	37	c.4617	CCDS45847.1	18																																																																																			-	NULL		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	C		-		31324429	1	no_errors	ENST00000269197	ensembl	human	known	74_37	silent	SNP	0.586	T	T	31324429	C	T	31324429	2	4	205	1	0	0	0	0	0	0	0	1	1068	825	29	2		2	ASXL3	18	31324429	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2736166	31324429	46752819	379	16900											
DYM	54808	genome.wustl.edu	37	chr18	46645158	46645158	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaatgaaggatgagttcGaaattgttcaaagagatcgc	11	5	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr18:46645158G>A	ENST00000269445.6	-	15	2159	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	DYM_ENST00000442713.2_Nonsense_Mutation_p.R378*|RP11-15F12.3_ENST00000585251.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	568					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATGAGTTCGAAATTGTTCA	0.358																																																	0								ENSG00000141627						155	136	142					18																	46645158		2203	4300	6503	DYM	SO:0001587	stop_gained	0			-	HGNC	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1702C>T	18.37:g.46645158G>A	ENSP00000269445:p.Arg568*	Somatic	0	66	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	61	22.78	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Nonsense_Mutation	SNP							pfam_Dymeclin,superfamily_ARM-type_fold	p.R568*	ENST00000269445.6	37	c.1702	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	G	43	10.379701	0.99394	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	.	.	.	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3625	14.6584	0.68850	0.07:0.0:0.93:0.0	.	.	.	.	X	378;568	.	ENSP00000269445:R568X	R	-	1	2	DYM	44899156	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	3.421000	0.52742	1.384000	0.46424	0.650000	0.86243	CGA	-	pfam_Dymeclin,superfamily_ARM-type_fold		0.358	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	protein_coding	OTTHUMT00000255912.3	G	NM_017653	-		46645158	-1	no_errors	ENST00000269445	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	46645158	G	A	46645158	4	1	205	1	0	0	0	0	0	1	0	0	4842	1066	37	1	319	1	DYM	18	46645158	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	15320729	46645158	31432090	380	16901											
DCC	1630	genome.wustl.edu	37	chr18	50683867	50683867	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcacggtctttttctccaGagaaggtgacaacaggtagg	11	8	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr18:50683867G>A	ENST00000442544.2	+	8	2019	c.1403G>A	c.(1402-1404)aGa>aAa	p.R468K	DCC_ENST00000412726.1_Missense_Mutation_p.R316K|DCC_ENST00000581580.1_Missense_Mutation_p.R123K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	468	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTTTCTCCAGAGAAGGTGAC	0.483																																																	0								ENSG00000187323						64	58	60					18																	50683867		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1403G>A	18.37:g.50683867G>A	ENSP00000389140:p.Arg468Lys	Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00		Missense_Mutation	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R468K	ENST00000442544.2	37	c.1403	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739596	0.49045	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.55234	0.53;0.53	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.076236	0.53938	D	0.000041	T	0.30070	0.0753	N	0.13272	0.32	0.33932	D	0.642197	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.27226	-1.0080	10	0.02654	T	1	.	11.4507	0.50151	0.0834:0.0:0.9166:0.0	.	316;316;468	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	468;401;316	ENSP00000389140:R468K;ENSP00000397322:R316K	ENSP00000304146:R401K	R	+	2	0	DCC	48937865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.496000	0.66918	2.546000	0.85860	0.561000	0.74099	AGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50683867	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50683867	G	A	50683867	3	1	205	1	0	0	0	0	1	0	0	0	4284	942	33	2	1433	2	DCC	18	50683867	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4038709	50683867	27393381	381	16902											
TCF4	6925	genome.wustl.edu	37	chr18	52921843	52921843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtccccatgaccaccaGgcatagctgtggatgggccc	12	14	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr18:52921843G>A	ENST00000356073.4	-	15	1846	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L	TCF4_ENST00000566286.1_Missense_Mutation_p.P409L|TCF4_ENST00000567880.1_Missense_Mutation_p.P352L|TCF4_ENST00000543082.1_Missense_Mutation_p.P370L|TCF4_ENST00000561992.1_Missense_Mutation_p.P282L|TCF4_ENST00000544241.2_Missense_Mutation_p.P341L|TCF4_ENST00000540999.1_Missense_Mutation_p.P388L|TCF4_ENST00000570287.2_Missense_Mutation_p.P252L|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000537578.1_Missense_Mutation_p.P388L|TCF4_ENST00000564403.2_Missense_Mutation_p.P418L|TCF4_ENST00000561831.3_Missense_Mutation_p.P252L|TCF4_ENST00000566279.1_Missense_Mutation_p.P352L|TCF4_ENST00000568673.1_Missense_Mutation_p.P388L|TCF4_ENST00000457482.3_Missense_Mutation_p.P252L|TCF4_ENST00000565018.2_Missense_Mutation_p.P412L|TCF4_ENST00000398339.1_Missense_Mutation_p.P514L|TCF4_ENST00000568740.1_Missense_Mutation_p.P387L|TCF4_ENST00000537856.3_Missense_Mutation_p.P282L|TCF4_ENST00000564228.1_Missense_Mutation_p.P341L|TCF4_ENST00000354452.3_Missense_Mutation_p.P412L|TCF4_ENST00000564999.1_Missense_Mutation_p.P412L|TCF4_ENST00000570177.2_Missense_Mutation_p.P282L	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	412					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)		ATGACCACCAGGCATAGCTGT	0.507																																																	0								ENSG00000196628						109	100	103					18																	52921843		2203	4300	6503	TCF4	SO:0001583	missense	0			-	HGNC	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.1235C>T	18.37:g.52921843G>A	ENSP00000348374:p.Pro412Leu	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P514L	ENST00000356073.4	37	c.1541	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377568	0.82682	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.62	5.62	0.85841	.	0.176896	0.51477	D	0.000096	T	0.70193	0.3196	M	0.62723	1.935	0.80722	D	1	P;P;P;P;B;P;P;B;P	0.52316	0.599;0.721;0.846;0.952;0.139;0.864;0.864;0.131;0.763	B;P;P;P;B;B;B;B;B	0.55455	0.356;0.476;0.543;0.776;0.039;0.434;0.434;0.087;0.173	T	0.72137	-0.4381	10	0.66056	D	0.02	-12.6024	18.4277	0.90614	0.0:0.0:1.0:0.0	.	388;412;252;514;412;370;341;252;409	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	L	412;252;412;370;388;388;341;282;514	ENSP00000346440:P412L;ENSP00000409447:P252L;ENSP00000348374:P412L;ENSP00000439656:P370L;ENSP00000445202:P388L;ENSP00000440731:P388L;ENSP00000441562:P341L;ENSP00000439827:P282L;ENSP00000381382:P514L	ENSP00000346440:P412L	P	-	2	0	TCF4	51072841	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.912000	0.87465	2.653000	0.90120	0.585000	0.79938	CCT	-	NULL		0.507	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	protein_coding	OTTHUMT00000256014.1	G	NM_003199	-		52921843	-1	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52921843	G	A	52921843	3	1	205	1	0	0	0	0	1	0	0	0	15702	1000	35	2	800	2	TCF4	18	52921843	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2237976	52921843	25155405	382	16903											
ARID3A	1820	genome.wustl.edu	37	chr19	972055	972055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatctacctcaaataactCgttgccttaaccgcatcact	3	15	3	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:972055C>T	ENST00000263620.3	+	9	2099	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	591						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		TCAAATAACTCGTTGCCTTAA	0.692																																					Pancreas(29;54 1022 32760 50921)												0								ENSG00000116017						44	41	42					19																	972055		2158	4224	6382	ARID3A	SO:0001583	missense	0			-	HGNC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1772C>T	19.37:g.972055C>T	ENSP00000263620:p.Ser591Leu	Somatic	0	105	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	118	19.18	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP							pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S591L	ENST00000263620.3	37	c.1772	CCDS12050.1	19	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394405	0.62066	.	.	ENSG00000116017	ENST00000263620	T	0.49139	0.79	5.03	5.03	0.67393	.	12.725600	0.00166	N	0.000010	T	0.43831	0.1265	L	0.44542	1.39	0.30744	N	0.745881	P	0.43662	0.814	B	0.30943	0.122	T	0.52881	-0.8516	10	0.62326	D	0.03	-10.0608	13.8475	0.63477	0.0:1.0:0.0:0.0	.	591	Q99856	ARI3A_HUMAN	L	591	ENSP00000263620:S591L	ENSP00000263620:S591L	S	+	2	0	ARID3A	923055	0.989000	0.36119	0.992000	0.48379	0.970000	0.65996	3.106000	0.50322	2.328000	0.79073	0.561000	0.74099	TCG	-	NULL		0.692	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	protein_coding	OTTHUMT00000458219.1	C	NM_005224	-		972055	1	no_errors	ENST00000263620	ensembl	human	known	74_37	missense	SNP	0.983	T	T	972055	C	T	972055	3	4	205	1	0	0	0	0	1	0	0	0	916	893	31	1	1802	1	ARID3A	19	972055	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		972055	58156928	383	16904											
REXO1	57455	genome.wustl.edu	37	chr19	1828546	1828546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccagcacatccgggcgcGgctcctcccccaggcccagg	11	20	0	0	rs147534740		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:1828546G>A	ENST00000170168.4	-	2	336	c.242C>T	c.(241-243)cCg>cTg	p.P81L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	81						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		ATCCGGGCGCGGCTCCTCCCC	0.682																																																	0								ENSG00000079313	G	LEU/PRO	1,4403		0,1,2201	19	21	20		242	3.4	0	19	dbSNP_134	20	0,8584		0,0,4292	no	missense	REXO1	NM_020695.3	98	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	81/1222	1828546	1,12987	2202	4292	6494	REXO1	SO:0001583	missense	0			-	HGNC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.242C>T	19.37:g.1828546G>A	ENSP00000170168:p.Pro81Leu	Somatic	0	117	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	141	16.57	Q9ULT2	Missense_Mutation	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.P81L	ENST00000170168.4	37	c.242	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	G	6.493	0.459075	0.12342	2.27E-4	0.0	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.10960	2.82	3.4	3.4	0.38934	.	0.325837	0.27609	U	0.018605	T	0.09468	0.0233	L	0.53249	1.67	0.09310	N	1	P;P	0.51240	0.876;0.943	B;B	0.35470	0.091;0.203	T	0.30416	-0.9979	10	0.35671	T	0.21	-10.5892	12.0404	0.53450	0.0:0.1751:0.8248:0.0	.	35;81	F5H016;Q8N1G1	.;REXO1_HUMAN	L	81;35	ENSP00000170168:P81L	ENSP00000170168:P81L	P	-	2	0	REXO1	1779546	0.740000	0.28207	0.006000	0.13384	0.034000	0.12701	1.267000	0.33050	1.893000	0.54813	0.462000	0.41574	CCG	-	NULL		0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	protein_coding	OTTHUMT00000449200.1	G	NM_020695	rs147534740		1828546	-1	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	SNP	0.006	A	A	1828546	G	A	1828546	3	1	205	1	0	0	0	0	1	0	0	0	13249	1116	39	1	3483	1	REXO1	19	1828546	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	856491	1828546	57300437	384	16905											
CSNK1G2	1455	genome.wustl.edu	37	chr19	1980163	1980163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcagatgctgctgtttcttCaagaggagaaagagaaaatc	10	7	3	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:1980163C>T	ENST00000255641.8	+	12	1704	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	403					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GCTGTTTCTTCAAGAGGAGAA	0.652																																					Ovarian(91;880 1392 21236 36928 37598)												0								ENSG00000133275						52	54	53					19																	1980163		2203	4300	6503	CSNK1G2	SO:0001819	synonymous_variant	0			-	HGNC	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.1209C>T	19.37:g.1980163C>T		Somatic	0	73	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	83	16.16	B5BU42|O00704|Q8WUB1	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F403	ENST00000255641.8	37	c.1209	CCDS12077.1	19																																																																																			-	NULL		0.652	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2	protein_coding	OTTHUMT00000449287.1	C	NM_001319	-		1980163	1	no_errors	ENST00000255641	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1980163	C	T	1980163	2	4	205	1	0	0	0	0	0	0	0	1	3957	825	29	2		2	CSNK1G2	19	1980163	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	151617	1980163	57148820	385	16906											
TJP3	27134	genome.wustl.edu	37	chr19	3747891	3747891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgcgttaacagcgactacGagacggacggcgagggcggc	17	12	0	1	rs144472063	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:3747891G>A	ENST00000541714.2	+	19	2884	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	TJP3_ENST00000587686.1_Missense_Mutation_p.E827K|TJP3_ENST00000262968.9_Missense_Mutation_p.E841K|TJP3_ENST00000539908.2_Missense_Mutation_p.E772K|TJP3_ENST00000589378.1_Missense_Mutation_p.E817K|TJP3_ENST00000382008.3_Missense_Mutation_p.E822K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	808					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGACTACGAGACGGACGG	0.677													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		16795	0		0	False		,,,				2504	0																0								ENSG00000105289	G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	35	30	32		2521	4.5	0.8	19	dbSNP_134	32	0,8596		0,0,4298	no	missense	TJP3	NM_014428.1	56	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	841/953	3747891	1,12999	2202	4298	6500	TJP3	SO:0001583	missense	0			GMAF=0.0005	HGNC	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2422G>A	19.37:g.3747891G>A	ENSP00000439278:p.Glu808Lys	Somatic	1	165	0.6		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	139	18.24	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP							pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens	p.E841K	ENST00000541714.2	37	c.2521	CCDS32873.2	19	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.2	4.114574	0.77210	2.27E-4	0.0	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.11821	2.76;2.93;2.74;2.81	4.54	4.54	0.55810	.	0.112463	0.64402	D	0.000016	T	0.39410	0.1077	M	0.77820	2.39	0.51482	D	0.999924	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.76575	0.946;0.988;0.771;0.946	T	0.40850	-0.9541	10	0.87932	D	0	.	16.2624	0.82553	0.0:0.0:1.0:0.0	.	827;841;822;808	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	K	808;772;822;841	ENSP00000439278:E808K;ENSP00000439991:E772K;ENSP00000371438:E822K;ENSP00000262968:E841K	ENSP00000262968:E841K	E	+	1	0	TJP3	3698891	1.000000	0.71417	0.841000	0.33234	0.048000	0.14542	7.375000	0.79646	2.062000	0.61559	0.561000	0.74099	GAG	-	prints_ZonOcculdens		0.677	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	protein_coding	OTTHUMT00000453434.1	G		rs144472063		3747891	1	no_errors	ENST00000262968	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3747891	G	A	3747891	3	1	205	1	0	0	0	0	1	0	0	0	15938	1059	37	1	2591	1	TJP3	19	3747891	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1767728	3747891	55381092	386	16907											
PLIN4	729359	genome.wustl.edu	37	chr19	4512775	4512775	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtggacatcgtgtctttCgtacccatgaccatagactt	8	12	1	2	rs371797406|rs386806141	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:4512775C>T	ENST00000301286.3	-	3	1154	c.1155G>A	c.(1153-1155)acG>acA	p.T385T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	385	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCGTGTCTTTCGTACCCATGA	0.567													c|||	9	0.00179712	0.003	0.0014	5008	,	,		18819	0		0.001	False		,,,				2504	0.0031																0								ENSG00000167676	C		0,2920		0,0,1460	60	79	74		1155	-3.8	0.5	19		74	8,8242		1,6,4118	no	coding-synonymous	PLIN4	NM_001080400.1		1,6,5578	TT,TC,CC		0.097,0.0,0.0716		385/1358	4512775	8,11162	1460	4125	5585	PLIN4	SO:0001819	synonymous_variant	0			-	HGNC	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1155G>A	19.37:g.4512775C>T		Somatic	0	73	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	80	17.53	A6NEI2	Silent	SNP							pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.T385	ENST00000301286.3	37	c.1155	CCDS45927.1	19																																																																																			-	superfamily_Ankyrin_rpt-contain_dom		0.567	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	protein_coding	OTTHUMT00000395095.1	C	XM_170901	-		4512775	-1	no_errors	ENST00000301286	ensembl	human	novel	74_37	silent	SNP	0.176	T	T	4512775	C	T	4512775	2	4	205	1	0	0	0	0	0	0	0	1	12094	871	31	1		1	PLIN4	19	4512775	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	764884	4512775	54616208	387	16908											
PTPRS	5802	genome.wustl.edu	37	chr19	5244376	5244376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggcccgtcttggctcttgGatttatattcgatgacgtaa	10	9	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:5244376G>A	ENST00000587303.1	-	10	1205	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	PTPRS_ENST00000372412.4_Missense_Mutation_p.S370F|PTPRS_ENST00000592099.1_Missense_Mutation_p.S356F|PTPRS_ENST00000348075.2_Missense_Mutation_p.S356F|PTPRS_ENST00000357368.4_Missense_Mutation_p.S369F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.S356F|PTPRS_ENST00000262963.6_Missense_Mutation_p.S365F|PTPRS_ENST00000353284.2_Missense_Mutation_p.S356F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	369	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGGCTCTTGGATTTATATTC	0.547																																																	0								ENSG00000105426						117	102	107					19																	5244376		2203	4300	6503	PTPRS	SO:0001583	missense	0			-	HGNC	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1106C>T	19.37:g.5244376G>A	ENSP00000467537:p.Ser369Phe	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.59	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.S370F	ENST00000587303.1	37	c.1109	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534918	0.64972	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.085624	0.48767	U	0.000162	T	0.68081	0.2962	L	0.51422	1.61	0.32268	N	0.569281	P;B;P;D;P;P	0.63046	0.725;0.021;0.928;0.992;0.956;0.927	B;B;P;P;P;P	0.62435	0.431;0.043;0.543;0.902;0.873;0.596	T	0.75921	-0.3147	10	0.59425	D	0.04	.	16.0206	0.80486	0.0:0.0:1.0:0.0	.	369;356;360;356;369;382	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	F	382;370;369;369;369;365;356;369;360;356	ENSP00000361489:S370F;ENSP00000349932:S369F;ENSP00000262963:S365F;ENSP00000269907:S356F;ENSP00000327313:S356F	ENSP00000262963:S365F	S	-	2	0	PTPRS	5195376	1.000000	0.71417	0.999000	0.59377	0.497000	0.33675	7.567000	0.82357	2.018000	0.59344	0.561000	0.74099	TCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	protein_coding	OTTHUMT00000450762.2	G		-		5244376	-1	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5244376	G	A	5244376	3	1	205	1	0	0	0	0	1	0	0	0	12819	1174	41	2	4852	2	PTPRS	19	5244376	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	731601	5244376	53884607	388	16909											
KHSRP	8570	genome.wustl.edu	37	chr19	6416548	6416548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggtcaatctgctgggGtgaaccccggatgatgaaca	15	9	2	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:6416548G>A	ENST00000398148.3	-	14	1533	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	481	Gly-rich.|KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						ATCTGCTGGGGTGAACCCCGG	0.592																																					Colon(55;593 1006 2067 9135 22980)												0								ENSG00000088247						39	42	41					19																	6416548		1897	4119	6016	KHSRP	SO:0001583	missense	0			-	HGNC	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1441C>T	19.37:g.6416548G>A	ENSP00000381216:p.Pro481Ser	Somatic	0	62	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	73	24.74	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP							pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.P481S	ENST00000398148.3	37	c.1441	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023094	0.75275	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.35048	1.33	5.21	5.21	0.72293	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.051547	0.85682	D	0.000000	T	0.54481	0.1861	L	0.48935	1.535	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.54323	-0.8311	10	0.54805	T	0.06	.	17.5431	0.87853	0.0:0.0:1.0:0.0	.	481	Q92945	FUBP2_HUMAN	S	481	ENSP00000381216:P481S	ENSP00000201886:P481S	P	-	1	0	KHSRP	6367548	1.000000	0.71417	0.959000	0.39883	0.984000	0.73092	9.531000	0.98054	2.425000	0.82216	0.655000	0.94253	CCC	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.592	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	protein_coding	OTTHUMT00000453305.1	G		-		6416548	-1	no_errors	ENST00000398148	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6416548	G	A	6416548	3	1	205	1	0	0	0	0	1	0	0	0	8153	1261	44	2	722	2	KHSRP	19	6416548	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1172172	6416548	52712435	389	16910											
ZNF358	140467	genome.wustl.edu	37	chr19	7585743	7585743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgccctgacccctgttctCccactcgtggcactgtcagc	8	19	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:7585743C>T	ENST00000597229.1	+	2	1785	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.P539S|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	539					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCCCTGTTCTCCCACTCGTGG	0.652																																																	0								ENSG00000198816						105	81	89					19																	7585743		2203	4300	6503	ZNF358	SO:0001583	missense	0			-	HGNC	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1615C>T	19.37:g.7585743C>T	ENSP00000472305:p.Pro539Ser	Somatic	0	47	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78	Q9BTM7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P539S	ENST00000597229.1	37	c.1615	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535410	0.45176	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07216	3.21	4.23	0.812	0.18744	.	.	.	.	.	T	0.03783	0.0107	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45629	-0.9248	9	0.02654	T	1	.	2.6012	0.04867	0.3344:0.4093:0.1628:0.0936	.	539	Q9NW07	ZN358_HUMAN	S	539	ENSP00000377873:P539S	ENSP00000354703:P539S	P	+	1	0	ZNF358	7491743	0.000000	0.05858	0.016000	0.15963	0.008000	0.06430	-0.327000	0.07955	0.295000	0.22570	-0.182000	0.12963	CCC	-	NULL		0.652	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	protein_coding	OTTHUMT00000316747.1	C		-		7585743	1	no_errors	ENST00000394341	ensembl	human	known	74_37	missense	SNP	0.011	T	T	7585743	C	T	7585743	3	4	205	1	0	0	0	0	1	0	0	0	17874	855	30	2	1617	2	ZNF358	19	7585743	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1169195	7585743	51543240	390	16911											
HNRNPM	4670	genome.wustl.edu	37	chr19	8538588	8538588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttggaataaataaaatGggaggtaagaaatttaaaat	10	0	0	1	rs140407642	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:8538588G>A	ENST00000325495.4	+	11	1079	c.1038G>A	c.(1036-1038)atG>atA	p.M346I	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M307I	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	346					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TAAATAAAATGGGAGGTAAGA	0.303													G|||	3	0.000599042	0.0023	0	5008	,	,		16919	0		0	False		,,,				2504	0																0								ENSG00000099783	G	ILE/MET,ILE/MET	4,4402	8.1+/-20.4	0,4,2199	67	67	67		1038,921	1.5	1	19	dbSNP_134	67	0,8592		0,0,4296	no	missense,missense	HNRNPM	NM_005968.4,NM_031203.3	10,10	0,4,6495	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	346/731,307/692	8538588	4,12994	2203	4296	6499	HNRNPM	SO:0001583	missense	0			-	HGNC	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1038G>A	19.37:g.8538588G>A	ENSP00000325376:p.Met346Ile	Somatic	0	23	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP							pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.M346I	ENST00000325495.4	37	c.1038	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	G	9.363	1.068499	0.20067	9.08E-4	0.0	ENSG00000099783	ENST00000325495;ENST00000348943	T;T	0.15256	2.44;2.74	4.9	1.48	0.22813	.	0.444441	0.23389	N	0.048702	T	0.12135	0.0295	L	0.52126	1.63	0.41948	D	0.990644	B;B	0.17667	0.023;0.001	B;B	0.14578	0.011;0.002	T	0.15549	-1.0433	10	0.13108	T	0.6	.	5.6068	0.17385	0.0792:0.1392:0.6374:0.1441	.	346;307	P52272;P52272-2	HNRPM_HUMAN;.	I	346;307	ENSP00000325376:M346I;ENSP00000325732:M307I	ENSP00000325376:M346I	M	+	3	0	HNRNPM	8444588	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	2.396000	0.44468	0.194000	0.20326	0.485000	0.47835	ATG	-	NULL		0.303	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	protein_coding	OTTHUMT00000460894.1	G		rs140407642		8538588	1	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	SNP	1.000	A	A	8538588	G	A	8538588	3	1	205	1	0	0	0	0	1	0	0	0	7273	1348	47	2	1080	2	HNRNPM	19	8538588	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	952845	8538588	50590395	391	16912											
PRAM1	84106	genome.wustl.edu	37	chr19	8563136	8563136	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcaggctgtcggtcctgGaagtggagcccagcggccga	15	12	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:8563136G>A	ENST00000423345.4	-	3	1990	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	PRAM1_ENST00000255612.3_Silent_p.F490F			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	538	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GTCGGTCCTGGAAGTGGAGCC	0.667																																																	0								ENSG00000133246						27	30	29					19																	8563136		2011	4164	6175	PRAM1	SO:0001819	synonymous_variant	0			-	HGNC	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1470C>T	19.37:g.8563136G>A		Somatic	0	125	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	116	17.14	Q8N6W7	Silent	SNP							superfamily_SH3_domain	p.F490	ENST00000423345.4	37	c.1470	CCDS45954.2	19																																																																																			-	NULL		0.667	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	protein_coding	OTTHUMT00000397040.3	G	NM_032152	-		8563136	-1	no_errors	ENST00000423345	ensembl	human	known	74_37	silent	SNP	0.037	A	A	8563136	G	A	8563136	2	1	205	1	0	0	0	0	0	0	0	1	12428	1165	41	2		2	PRAM1	19	8563136	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	24548	8563136	50565847	392	16913											
MUC16	94025	genome.wustl.edu	37	chr19	9056817	9056817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggaggccagtctggggatGatgtttttgcagaagaggtg	17	5	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:9056817G>A	ENST00000397910.4	-	3	30832	c.30629C>T	c.(30628-30630)tCa>tTa	p.S10210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10212	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						GTCTGGGGATGATGTTTTTGC	0.468																																																	0								ENSG00000181143						130	128	129					19																	9056817		1951	4161	6112	MUC16	SO:0001583	missense	0			-	HGNC	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.30629C>T	19.37:g.9056817G>A	ENSP00000381008:p.Ser10210Leu	Somatic	0	24	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S10210L	ENST00000397910.4	37	c.30629	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.235	0.600087	0.13939	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.14	0.885	0.19188	.	.	.	.	.	T	0.02571	0.0078	L	0.34521	1.04	.	.	.	B	0.21381	0.055	B	0.18871	0.023	T	0.29088	-1.0023	8	0.87932	D	0	.	4.7225	0.12926	0.3369:0.0:0.6631:0.0	.	10210	B5ME49	.	L	10210	ENSP00000381008:S10210L	ENSP00000381008:S10210L	S	-	2	0	MUC16	8917817	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.098000	0.15189	0.289000	0.22422	0.467000	0.42956	TCA	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9056817	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.000	A	A	9056817	G	A	9056817	3	1	205	1	0	0	0	0	1	0	0	0	9975	1294	45	2	13222	2	MUC16	19	9056817	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	493681	9056817	50072166	393	16914											
MUC16	94025	genome.wustl.edu	37	chr19	9076249	9076249	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcccagtcaagagtggacaGagaatcaaacagaaaagtgg	12	7	2	3	rs564259362		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:9076249G>A	ENST00000397910.4	-	3	11400	c.11197C>T	c.(11197-11199)Ctg>Ttg	p.L3733L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3734	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						AGAGTGGACAGAGAATCAAAC	0.498																																																	0								ENSG00000181143						126	125	126					19																	9076249		1983	4173	6156	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.11197C>T	19.37:g.9076249G>A		Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L3733	ENST00000397910.4	37	c.11197	CCDS54212.1	19																																																																																			-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9076249	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.002	A	A	9076249	G	A	9076249	2	1	205	1	0	0	0	0	0	0	0	1	9975	933	33	2		2	MUC16	19	9076249	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	19432	9076249	50052734	394	16915											
ZNF560	147741	genome.wustl.edu	37	chr19	9581134	9581134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtttctctgagctgggtCcagtaaagtccactcttcct	9	12	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:9581134C>T	ENST00000301480.4	-	7	595	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	128	KRAB 2. {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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAGCTGGGTCCAGTAAAGTC	0.483																																																	0								ENSG00000198028						161	136	144					19																	9581134		2203	4300	6503	ZNF560	SO:0001583	missense	0			-	HGNC	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.382G>A	19.37:g.9581134C>T	ENSP00000301480:p.Asp128Asn	Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	Q495S9|Q495T1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D128N	ENST00000301480.4	37	c.382	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379760	0.24944	.	.	ENSG00000198028	ENST00000301480	T	0.02525	4.26	2.09	-0.0934	0.13649	Krueppel-associated box (4);	.	.	.	.	T	0.05273	0.0140	L	0.53671	1.685	0.09310	N	1	D	0.54397	0.966	P	0.52909	0.713	T	0.38845	-0.9642	9	0.29301	T	0.29	.	4.7791	0.13194	0.0:0.4947:0.0:0.5053	.	128	Q96MR9	ZN560_HUMAN	N	128	ENSP00000301480:D128N	ENSP00000301480:D128N	D	-	1	0	ZNF560	9442134	0.006000	0.16342	0.002000	0.10522	0.405000	0.30901	0.033000	0.13754	0.030000	0.15379	0.557000	0.71058	GAC	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	protein_coding	OTTHUMT00000449901.1	C	NM_152476	-		9581134	-1	no_errors	ENST00000301480	ensembl	human	known	74_37	missense	SNP	0.004	T	T	9581134	C	T	9581134	3	4	205	1	0	0	0	0	1	0	0	0	17998	855	30	2	2006	2	ZNF560	19	9581134	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	504885	9581134	49547849	395	16916											
PIN1	5300	genome.wustl.edu	37	chr19	9949265	9949265	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagccagtcacggcggccctCgtcctggcggcaggagaaga	15	14	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:9949265C>A	ENST00000247970.4	+	2	234	c.212C>A	c.(211-213)tCg>tAg	p.S71*	PIN1_ENST00000587625.1_Nonsense_Mutation_p.S71*|PIN1_ENST00000588695.1_Nonsense_Mutation_p.S71*|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	71	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						CGGCGGCCCTCGTCCTGGCGG	0.677																																																	0								ENSG00000127445						9	11	10					19																	9949265		2152	4205	6357	PIN1	SO:0001587	stop_gained	0			-	HGNC		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.212C>A	19.37:g.9949265C>A	ENSP00000247970:p.Ser71*	Somatic	0	122	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	164	13.16	A8K4V9|Q53X75	Nonsense_Mutation	SNP							pfam_PPIase_PpiC,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,pfscan_PPIase_PpiC	p.S71*	ENST00000247970.4	37	c.212	CCDS12220.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.848189	0.97023	.	.	ENSG00000127445	ENST00000247970;ENST00000424497	.	.	.	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.2126	14.7168	0.69275	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	.	S	+	2	0	PIN1	9810265	0.999000	0.42202	0.951000	0.38953	0.991000	0.79684	4.219000	0.58561	2.340000	0.79590	0.555000	0.69702	TCG	-	pfam_PPIase_PpiC,pfscan_PPIase_PpiC		0.677	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1	protein_coding	OTTHUMT00000451107.1	C		-		9949265	1	no_errors	ENST00000247970	ensembl	human	known	74_37	nonsense	SNP	0.995	A	A	9949265	C	A	9949265	4	1	205	1	0	0	0	0	0	1	0	0	11932	893	31	3	218	3	PIN1	19	9949265	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	368131	9949265	49179718	396	16917											
BEST2	54831	genome.wustl.edu	37	chr19	12867020	12867020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaaggacttgtactgGgatgcagccgaggctcgcgc	16	10	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:12867020G>A	ENST00000549706.1	+	9	1338	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	BEST2_ENST00000553030.1_Nonsense_Mutation_p.W338*|BEST2_ENST00000042931.1_Nonsense_Mutation_p.W338*			Q8NFU1	BEST2_HUMAN	bestrophin 2	338					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.W338C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						ACTTGTACTGGGATGCAGCCG	0.587																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000039987						143	150	148					19																	12867020		2147	4248	6395	BEST2	SO:0001587	stop_gained	0			-	HGNC	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1014G>A	19.37:g.12867020G>A	ENSP00000448310:p.Trp338*	Somatic	0	36	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	Q53YQ8|Q9NXP0	Nonsense_Mutation	SNP							pfam_Bestrophin/UPF0187	p.W338*	ENST00000549706.1	37	c.1014	CCDS42506.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.201520|6.201520	0.97371|0.97371	.|.	.|.	ENSG00000039987|ENSG00000039987	ENST00000552539|ENST00000549706;ENST00000553030;ENST00000042931	.|.	.|.	.|.	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|.	0.35098|.	0.0920|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32455|.	-0.9906|.	3|.	.|0.02654	.|T	.|1	-6.7081|-6.7081	15.0879|15.0879	0.72170|0.72170	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	48|338	.|.	.|ENSP00000042931:W338X	G|W	+|+	2|3	0|0	BEST2|BEST2	12728020|12728020	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.278000|0.278000	0.26855|0.26855	7.577000|7.577000	0.82486|0.82486	2.086000|2.086000	0.62901|0.62901	0.491000|0.491000	0.48974|0.48974	GGG|TGG	-	NULL		0.587	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	protein_coding	OTTHUMT00000403343.1	G	NM_017682	-		12867020	1	no_errors	ENST00000042931	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	12867020	G	A	12867020	4	1	205	1	0	0	0	0	0	1	0	0	1405	1241	43	2	1044	2	BEST2	19	12867020	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2917755	12867020	46261963	397	16918											
CPAMD8	27151	genome.wustl.edu	37	chr19	17025498	17025498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcaggaccctgcccacgGccaggaaggagccatcggcc	13	15	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:17025498G>A	ENST00000443236.1	-	28	3927	c.3896C>T	c.(3895-3897)gCc>gTc	p.A1299V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1252						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGCCCACGGCCAGGAAGGA	0.662																																																	0								ENSG00000160111						30	35	33					19																	17025498		1975	4171	6146	CPAMD8	SO:0001583	missense	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3896C>T	19.37:g.17025498G>A	ENSP00000402505:p.Ala1299Val	Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	58	20.55	Q8NC09|Q9ULD7	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.A1299V	ENST00000443236.1	37	c.3896	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.892564|2.892564	0.52121|0.52121	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.93|2.93	2.93|2.93	0.34026|0.34026	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	P|.	0.49090|.	0.919|.	P|.	0.50537|.	0.643|.	T|T	0.57785|0.57785	-0.7751|-0.7751	9|5	0.35671|.	T|.	0.21|.	.|.	13.7993|13.7993	0.63190|0.63190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1252|.	Q8IZJ3|.	CPMD8_HUMAN|.	V|S	1299|1310	.|.	ENSP00000291440:A1299V|.	A|P	-|-	2|1	0|0	CPAMD8|CPAMD8	16886498|16886498	1.000000|1.000000	0.71417|0.71417	0.269000|0.269000	0.24586|0.24586	0.218000|0.218000	0.24690|0.24690	4.869000|4.869000	0.63028|0.63028	1.202000|1.202000	0.43218|0.43218	0.555000|0.555000	0.69702|0.69702	GCC|CCG	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.662	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	G	NM_015692	-		17025498	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	SNP	0.995	A	A	17025498	G	A	17025498	3	1	205	1	0	0	0	0	1	0	0	0	3797	1203	42	2	1962	2	CPAMD8	19	17025498	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4158478	17025498	42103485	398	16919											
ELL	8178	genome.wustl.edu	37	chr19	18576666	18576666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgtcgcggccgatgttGgagaggtagaaggagaacgt	19	5	0	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:18576666G>A	ENST00000262809.4	-	3	317	c.246C>T	c.(244-246)tcC>tcT	p.S82S	ELL_ENST00000596124.3_5'UTR	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	82					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)			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)		GGCCGATGTTGGAGAGGTAGA	0.677			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0								ENSG00000105656						43	45	44					19																	18576666		2203	4300	6503	ELL	SO:0001819	synonymous_variant	0			-	HGNC	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.246C>T	19.37:g.18576666G>A		Somatic	0	73	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	82	21.15		Silent	SNP							pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S82	ENST00000262809.4	37	c.246	CCDS12380.1	19																																																																																			-	pfam_RNA_pol_II_elong_fac_ELL		0.677	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	protein_coding	OTTHUMT00000466362.1	G	NM_006532	-		18576666	-1	no_errors	ENST00000262809	ensembl	human	known	74_37	silent	SNP	0.998	A	A	18576666	G	A	18576666	2	1	205	1	0	0	0	0	0	0	0	1	5064	1335	47	2		2	ELL	19	18576666	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1551168	18576666	40552317	399	16920											
ZNF536	9745	genome.wustl.edu	37	chr19	31039417	31039417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaacccagtggcaagtcctCccagaggaagtccgagaaat	11	11	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:31039417C>T	ENST00000355537.3	+	4	3038	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	964					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCAAGTCCTCCCAGAGGAAG	0.582																																																	0								ENSG00000198597						97	106	103					19																	31039417		2203	4300	6503	ZNF536	SO:0001583	missense	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2891C>T	19.37:g.31039417C>T	ENSP00000347730:p.Ser964Phe	Somatic	0	37	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	A2RU18	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S964F	ENST00000355537.3	37	c.2891	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	1.987	-0.432635	0.04669	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.78	2.52	0.30459	.	0.700532	0.15160	N	0.277184	T	0.07954	0.0199	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.21225	0.053;0.053	B;B	0.18263	0.021;0.021	T	0.29882	-0.9997	10	0.49607	T	0.09	-5.8649	8.3396	0.32235	0.0:0.7312:0.1289:0.1399	.	964;964	A7E228;O15090	.;ZN536_HUMAN	F	964	ENSP00000347730:S964F	ENSP00000347730:S964F	S	+	2	0	ZNF536	35731257	0.870000	0.30015	0.056000	0.19401	0.688000	0.40055	1.383000	0.34385	0.374000	0.24650	0.561000	0.74099	TCC	-	NULL		0.582	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	C	NM_014717	-		31039417	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	SNP	0.234	T	T	31039417	C	T	31039417	3	4	205	1	0	0	0	0	1	0	0	0	17981	855	30	2	2901	2	ZNF536	19	31039417	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	12462751	31039417	28089566	400	16921											
ZBTB32	27033	genome.wustl.edu	37	chr19	36207192	36207192	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atggagacgcactaccgagtCcacacaggtatgggcgccct	12	13	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:36207192C>G	ENST00000392197.2	+	6	1500	c.1182C>G	c.(1180-1182)gtC>gtG	p.V394V	ZBTB32_ENST00000262630.3_Silent_p.V394V|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	394					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTACCGAGTCCACACAGGTA	0.617																																																	0								ENSG00000011590						32	30	31					19																	36207192		2203	4300	6503	ZBTB32	SO:0001819	synonymous_variant	0			-	HGNC	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1182C>G	19.37:g.36207192C>G		Somatic	0	40	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q8WVP2	Silent	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V394	ENST00000392197.2	37	c.1182	CCDS12471.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB32	protein_coding	OTTHUMT00000109491.3	C	NM_014383	-		36207192	1	no_errors	ENST00000262630	ensembl	human	known	74_37	silent	SNP	0.996	G	G	36207192	C	G	36207192	2	3	205	1	0	0	0	0	0	0	0	1	17542	842	30	4		4	ZBTB32	19	36207192	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5167775	36207192	22921791	401	16922											
IL28A	282616	genome.wustl.edu	37	chr19	39759385	39759385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaccgtgactggagcagttCctgtcgccaggctccacggg	14	13	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:39759385C>T	ENST00000331982.5	+	2	134	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	27					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGGAGCAGTTCCTGTCGCCAG	0.622																																																	0								ENSG00000183709						51	54	53					19																	39759385		2200	4300	6500	IFNL2	SO:0001583	missense	0			-	HGNC	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.79C>T	19.37:g.39759385C>T	ENSP00000333639:p.Pro27Ser	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.57	Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP							NULL	p.P27S	ENST00000331982.5	37	c.79	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750484	0.49257	.	.	ENSG00000183709	ENST00000331982	T	0.16743	2.32	2.97	2.97	0.34412	.	0.244071	0.29106	N	0.013136	T	0.37785	0.1016	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.04255	-1.0965	10	0.72032	D	0.01	-1.611	9.5434	0.39266	0.0:1.0:0.0:0.0	.	27	Q8IZJ0	IL28A_HUMAN	S	27	ENSP00000333639:P27S	ENSP00000333639:P27S	P	+	1	0	IL28A	44451225	0.015000	0.18098	0.016000	0.15963	0.224000	0.24922	1.763000	0.38461	1.679000	0.50963	0.195000	0.17529	CCT	-	NULL		0.622	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	protein_coding	OTTHUMT00000463833.1	C	NM_172138	-		39759385	1	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	SNP	0.030	T	T	39759385	C	T	39759385	3	4	205	1	0	0	0	0	1	0	0	0	7684	855	30	2	85	2	IL28A	19	39759385	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	3552193	39759385	19369598	402	16923											
FCGBP	8857	genome.wustl.edu	37	chr19	40408491	40408491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatacttcttctccagctCgggaggacacttgtggctgg	12	11	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:40408491C>T	ENST00000221347.6	-	8	4355	c.4348G>A	c.(4348-4350)Gag>Aag	p.E1450K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1450	VWFD 3. {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)			TTCTCCAGCTCGGGAGGACAC	0.657																																																	0								ENSG00000090920						55	60	58					19																	40408491		2203	4300	6503	FCGBP	SO:0001583	missense	0			-	HGNC	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.4348G>A	19.37:g.40408491C>T	ENSP00000221347:p.Glu1450Lys	Somatic	0	87	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	114	19.15	O95784	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E1450K	ENST00000221347.6	37	c.4348	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	c	7.649	0.682589	0.14907	.	.	ENSG00000090920	ENST00000221347	T	0.19532	2.14	4.77	2.38	0.29361	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.10852	0.0265	L	0.45698	1.435	0.23204	N	0.998123	P	0.43885	0.82	B	0.27796	0.083	T	0.16364	-1.0405	9	0.17832	T	0.49	.	2.8511	0.05558	0.19:0.5256:0.184:0.1004	.	1450	Q9Y6R7	FCGBP_HUMAN	K	1450	ENSP00000221347:E1450K	ENSP00000221347:E1450K	E	-	1	0	FCGBP	45100331	.	.	0.309000	0.25155	0.016000	0.09150	.	.	0.946000	0.37632	0.644000	0.83932	GAG	-	NULL		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890	-		40408491	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	SNP	0.894	T	T	40408491	C	T	40408491	3	4	205	1	0	0	0	0	1	0	0	0	5780	893	31	1	11985	1	FCGBP	19	40408491	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	649106	40408491	18720492	403	16924											
DMRTC2	63946	genome.wustl.edu	37	chr19	42351926	42351926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaaccacttcagaaaggGaaccactcagccacaggtcc	7	16	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:42351926G>A	ENST00000269945.3	+	3	398	c.347G>A	c.(346-348)gGa>gAa	p.G116E	DMRTC2_ENST00000596827.1_Missense_Mutation_p.G116E|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	116					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G116V(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTCAGAAAGGGAACCACTCAG	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000142025						32	29	30					19																	42351926		2202	4299	6501	DMRTC2	SO:0001583	missense	0			-	HGNC	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.347G>A	19.37:g.42351926G>A	ENSP00000269945:p.Gly116Glu	Somatic	0	34	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP							pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.G116E	ENST00000269945.3	37	c.347	CCDS33034.1	19	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439210	0.12104	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.23	-0.899	0.10547	.	2.581580	0.01941	N	0.041882	T	0.31544	0.0800	L	0.46157	1.445	0.09310	N	0.999995	B;B	0.12630	0.006;0.005	B;B	0.10450	0.005;0.004	T	0.03829	-1.1000	9	0.14656	T	0.56	0.0185	1.8656	0.03198	0.1719:0.3018:0.3711:0.1552	.	116;116	B4DX56;Q8IXT2	.;DMRTD_HUMAN	E	116	.	ENSP00000269945:G116E	G	+	2	0	DMRTC2	47043766	0.352000	0.24895	0.044000	0.18714	0.010000	0.07245	0.251000	0.18257	0.021000	0.15133	-0.170000	0.13304	GGA	-	NULL		0.597	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	protein_coding	OTTHUMT00000463045.1	G	NM_001040283	-		42351926	1	no_errors	ENST00000269945	ensembl	human	known	74_37	missense	SNP	0.062	A	A	42351926	G	A	42351926	3	1	205	1	0	0	0	0	1	0	0	0	4593	1174	41	2	353	2	DMRTC2	19	42351926	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1943435	42351926	16777057	404	16925											
PSG5	5673	genome.wustl.edu	37	chr19	43680253	43680253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctaagacatccttattctCcctgggttttgagttgttga	10	8	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:43680253C>T	ENST00000366175.3	-	3	608	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.E253K|PSG5_ENST00000342951.6_Missense_Mutation_p.E160K|PSG5_ENST00000404580.1_Missense_Mutation_p.E160K|PSG5_ENST00000407356.1_Missense_Mutation_p.E160K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E160K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCTTATTCTCCCTGGGTTTT	0.493																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000204941						238	223	228					19																	43680253		2202	4296	6498	PSG5	SO:0001583	missense	0			-	HGNC		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.478G>A	19.37:g.43680253C>T	ENSP00000382334:p.Glu160Lys	Somatic	0	147	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	158	17.71	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E160K	ENST00000366175.3	37	c.478	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	c	13.03	2.116264	0.37339	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	1.23	1.23	0.21249	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35278	0.0926	M	0.85197	2.74	0.09310	N	0.999995	D;P	0.69078	0.997;0.874	D;P	0.79784	0.993;0.853	T	0.06197	-1.0840	9	0.72032	D	0.01	.	5.7748	0.18273	0.0:1.0:0.0:0.0	.	253;160	Q15228;Q15238	.;PSG5_HUMAN	K	160	ENSP00000382334:E160K;ENSP00000386008:E160K;ENSP00000344413:E160K;ENSP00000385250:E160K	ENSP00000344413:E160K	E	-	1	0	PSG5	48372093	0.009000	0.17119	0.007000	0.13788	0.015000	0.08874	0.036000	0.13819	0.630000	0.30394	0.184000	0.17185	GAG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	protein_coding	OTTHUMT00000323055.1	C	NM_002781	-		43680253	-1	no_errors	ENST00000342951	ensembl	human	known	74_37	missense	SNP	0.024	T	T	43680253	C	T	43680253	3	4	205	1	0	0	0	0	1	0	0	0	12663	864	30	2	541	2	PSG5	19	43680253	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1328327	43680253	15448730	405	16926											
RSPH6A	81492	genome.wustl.edu	37	chr19	46308052	46308052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctcctccacctcctcctCctctgcctcctcctcgccct	2	25	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:46308052C>T	ENST00000221538.3	-	3	1253	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E371K|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E107K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	371	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						acctcctcctcctctgcctcc	0.652																																																	0								ENSG00000104941						83	68	73					19																	46308052		2203	4300	6503	RSPH6A	SO:0001583	missense	0			-	HGNC	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1111G>A	19.37:g.46308052C>T	ENSP00000221538:p.Glu371Lys	Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	94	12.15	Q53FE2|Q6PEZ9	Missense_Mutation	SNP							pfam_Radial_spoke	p.E371K	ENST00000221538.3	37	c.1111	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545857	0.45280	.	.	ENSG00000104941	ENST00000221538	T	0.19105	2.17	3.76	3.76	0.43208	.	0.131525	0.47093	D	0.000254	T	0.16938	0.0407	L	0.58428	1.81	0.33704	D	0.614909	B	0.24963	0.115	B	0.25140	0.058	T	0.09729	-1.0661	10	0.09338	T	0.73	-2.5473	7.4235	0.27085	0.0:0.8831:0.0:0.1169	.	371	Q9H0K4	RSH6A_HUMAN	K	371	ENSP00000221538:E371K	ENSP00000221538:E371K	E	-	1	0	RSPH6A	50999892	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	5.383000	0.66219	2.391000	0.81399	0.456000	0.33151	GAG	-	pfam_Radial_spoke		0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	protein_coding	OTTHUMT00000461657.1	C		-		46308052	-1	no_errors	ENST00000221538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46308052	C	T	46308052	3	4	205	1	0	0	0	0	1	0	0	0	13715	864	30	2	1058	2	RSPH6A	19	46308052	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2627799	46308052	12820931	406	16927											
CCDC114	93233	genome.wustl.edu	37	chr19	48801542	48801542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctggtcttgaccccaagGaggtcatcgatcatgctgct	11	11	3	1	rs267605561		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:48801542G>A	ENST00000315396.7	-	11	1867	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	395					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGACCCCAAGGAGGTCATCGA	0.602																																																	0								ENSG00000105479						107	99	102					19																	48801542		2203	4300	6503	CCDC114	SO:0001819	synonymous_variant	0			-	HGNC	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1185C>T	19.37:g.48801542G>A		Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	52	17.46	Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP							NULL	p.L395	ENST00000315396.7	37	c.1185	CCDS12714.2	19																																																																																			-	NULL		0.602	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	protein_coding	OTTHUMT00000343207.1	G	NM_144577	-		48801542	-1	no_errors	ENST00000315396	ensembl	human	known	74_37	silent	SNP	0.996	A	A	48801542	G	A	48801542	2	1	205	1	0	0	0	0	0	0	0	1	2753	1161	41	2		2	CCDC114	19	48801542	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2493490	48801542	10327441	407	16928											
SHANK1	50944	genome.wustl.edu	37	chr19	51170823	51170823	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgcggggccgggggcTccgtccccagctgcagcagg	20	14	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:51170823T>A	ENST00000293441.1	-	22	4412	c.4394A>T	c.(4393-4395)gAg>gTg	p.E1465V	SHANK1_ENST00000359082.3_Missense_Mutation_p.E1456V|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1473V|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.E852V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1465					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)			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)		GGCCGGGGGCTCCGTCCCCAG	0.751																																																	0								ENSG00000161681						3	5	4					19																	51170823		1184	2684	3868	SHANK1	SO:0001583	missense	0			-	HGNC	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.4394A>T	19.37:g.51170823T>A	ENSP00000293441:p.Glu1465Val	Somatic	0	10	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E1473V	ENST00000293441.1	37	c.4418	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	T	1.435	-0.569232	0.03910	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39997	1.18;1.67;1.15;1.05	1.78	1.78	0.24846	.	0.653207	0.12883	U	0.431300	T	0.23210	0.0561	N	0.12746	0.255	0.30661	N	0.754409	P;D	0.55172	0.949;0.97	B;B	0.43225	0.234;0.412	T	0.10894	-1.0610	10	0.30078	T	0.28	.	7.1988	0.25868	0.0:0.0:0.0:1.0	.	1465;852	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	V	1465;852;1456;1473	ENSP00000293441:E1465V;ENSP00000375689:E852V;ENSP00000351984:E1456V;ENSP00000375690:E1473V	ENSP00000293441:E1465V	E	-	2	0	SHANK1	55862635	0.320000	0.24616	0.453000	0.27007	0.125000	0.20455	0.957000	0.29215	0.833000	0.34828	0.164000	0.16699	GAG	-	NULL		0.751	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	T	NM_016148	-		51170823	-1	no_errors	ENST00000391814	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51170823	T	A	51170823	3	1	205	1	0	0	0	0	1	0	0	0	14272	1551	54	5	2099	5	SHANK1	19	51170823	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	2369281	51170823	7958160	408	16929											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51645996	51645996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcggggagatacttctttCgtatggagaaaggaaatata	12	4	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:51645996C>T	ENST00000317643.6	+	1	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124C|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124C	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	124					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R124C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000168995						88	90	89					19																	51645996		2203	4300	6503	SIGLEC7	SO:0001583	missense	0			-	HGNC	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10876	protein-coding gene	gene with protein product		604410	"sialic acid binding Ig-like lectin 19, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 2"	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.370C>T	19.37:g.51645996C>T	ENSP00000323328:p.Arg124Cys	Somatic	0	50	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	53	17.19	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R124C	ENST00000317643.6	37	c.370	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149449	0.37923	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.66638	-0.22;-0.22;-0.22	2.89	-1.1	0.09872	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.072930	0.07459	N	0.900226	T	0.79736	0.4497	M	0.90977	3.165	0.09310	N	0.999998	D;D;D	0.89917	0.997;1.0;0.999	P;P;P	0.61533	0.72;0.753;0.89	T	0.64097	-0.6487	10	0.49607	T	0.09	.	3.6718	0.08277	0.0:0.541:0.2071:0.2519	.	124;124;124	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	C	124	ENSP00000323328:R124C;ENSP00000306757:R124C;ENSP00000437609:R124C	ENSP00000306757:R124C	R	+	1	0	SIGLEC7	56337808	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.092000	0.03366	-0.177000	0.10690	-0.487000	0.04747	CGT	-	pfam_Ig_V-set,smart_Ig_sub		0.478	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	C	NM_016543	-		51645996	1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	SNP	0.000	T	T	51645996	C	T	51645996	3	4	205	1	0	0	0	0	1	0	0	0	14321	884	31	1	372	1	SIGLEC7	19	51645996	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	475173	51645996	7482987	409	16930											
FPR3	2359	genome.wustl.edu	37	chr19	52327005	52327005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcaggtgtgggaagatgGaaaccaacttctccattcct	10	9	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:52327005G>A	ENST00000339223.4	+	2	183	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	FPR3_ENST00000595991.1_Missense_Mutation_p.E2K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	2					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGGGAAGATGGAAACCAACTT	0.478																																																	0								ENSG00000187474						84	68	74					19																	52327005		2203	4300	6503	FPR3	SO:0001583	missense	0			-	HGNC		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.4G>A	19.37:g.52327005G>A	ENSP00000341821:p.Glu2Lys	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	70	22.22		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.E2K	ENST00000339223.4	37	c.4	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559623	0.45590	.	.	ENSG00000187474	ENST00000339223	T	0.70869	-0.52	2.32	2.32	0.28847	.	0.566557	0.16051	N	0.231951	T	0.60274	0.2256	N	0.08118	0	0.23581	N	0.997362	D	0.59767	0.986	P	0.55455	0.776	T	0.52208	-0.8606	10	0.66056	D	0.02	.	8.6337	0.33935	0.0:0.0:1.0:0.0	.	2	P25089	FPR3_HUMAN	K	2	ENSP00000341821:E2K	ENSP00000341821:E2K	E	+	1	0	FPR3	57018817	0.998000	0.40836	0.927000	0.36925	0.408000	0.30992	1.948000	0.40303	1.223000	0.43536	0.467000	0.42956	GAA	-	NULL		0.478	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	protein_coding	OTTHUMT00000466914.1	G	NM_002030	-		52327005	1	no_errors	ENST00000339223	ensembl	human	known	74_37	missense	SNP	0.958	A	A	52327005	G	A	52327005	3	1	205	1	0	0	0	0	1	0	0	0	6042	1175	41	2	6	2	FPR3	19	52327005	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	681009	52327005	6801978	410	16931											
ZNF160	90338	genome.wustl.edu	37	chr19	53571974	53571974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaaagttaggcttgaacGatcactaaaggctctgccac	9	9	2	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:53571974G>A	ENST00000429604.1	-	7	2228	c.1813C>T	c.(1813-1815)Cgt>Tgt	p.R605C	ZNF160_ENST00000599056.1_Missense_Mutation_p.R605C|ZNF160_ENST00000418871.1_Missense_Mutation_p.R605C|ZNF160_ENST00000601421.1_Missense_Mutation_p.R569C	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	605					hemopoiesis (GO:0030097)|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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGGCTTGAACGATCACTAAAG	0.408																																																	0								ENSG00000170949						86	85	86					19																	53571974		2203	4300	6503	ZNF160	SO:0001583	missense	0			-	HGNC	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1813C>T	19.37:g.53571974G>A	ENSP00000406201:p.Arg605Cys	Somatic	0	53	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	55	15.38	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R605C	ENST00000429604.1	37	c.1813	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672137	0.29693	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.36157	1.27;1.27	2.36	-4.71	0.03279	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37183	0.0994	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	P	0.57371	0.819	T	0.28522	-1.0041	9	0.40728	T	0.16	.	4.8442	0.13505	0.146:0.0:0.3679:0.4861	.	605	Q9HCG1	ZN160_HUMAN	C	605	ENSP00000406201:R605C;ENSP00000409597:R605C	ENSP00000409597:R605C	R	-	1	0	ZNF160	58263786	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.918000	0.00170	-0.739000	0.04809	0.655000	0.94253	CGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	protein_coding	OTTHUMT00000463994.2	G	NM_033288	-		53571974	-1	no_errors	ENST00000418871	ensembl	human	known	74_37	missense	SNP	0.000	A	A	53571974	G	A	53571974	3	1	205	1	0	0	0	0	1	0	0	0	17746	1058	37	1	647	1	ZNF160	19	53571974	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	1244969	53571974	5557009	411	16932											
VN1R2	317701	genome.wustl.edu	37	chr19	53762706	53762706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactaatcattgcctgttttCcaactattagcccttttgtt	4	11	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:53762706C>T	ENST00000341702.3	+	1	1162	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	360					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGCCTGTTTTCCAACTATTAG	0.443																																																	0								ENSG00000196131						215	197	203					19																	53762706		2203	4300	6503	VN1R2	SO:0001583	missense	0			-	HGNC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1078C>T	19.37:g.53762706C>T	ENSP00000351244:p.Pro360Ser	Somatic	0	45	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	A1L411|Q8TDU4	Missense_Mutation	SNP							pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.P360S	ENST00000341702.3	37	c.1078	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483670	0.44147	.	.	ENSG00000196131	ENST00000341702	T	0.34275	1.37	2.94	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46560	0.1399	L	0.46819	1.47	0.22446	N	0.999098	D	0.64830	0.994	D	0.67725	0.953	T	0.18398	-1.0338	9	0.59425	D	0.04	.	6.1279	0.20189	0.0:0.861:0.0:0.139	.	360	Q8NFZ6	VN1R2_HUMAN	S	360	ENSP00000351244:P360S	ENSP00000351244:P360S	P	+	1	0	VN1R2	58454518	0.110000	0.22057	0.240000	0.24138	0.044000	0.14063	0.447000	0.21710	1.989000	0.58080	0.596000	0.82720	CCA	-	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	protein_coding	OTTHUMT00000464285.1	C	NM_173856	-		53762706	1	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	SNP	0.593	T	T	53762706	C	T	53762706	3	4	205	1	0	0	0	0	1	0	0	0	17186	855	30	2	1080	2	VN1R2	19	53762706	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	190732	53762706	5366277	412	16933											
ZNF331	55422	genome.wustl.edu	37	chr19	54080238	54080238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtgggaaggcctttagtCgtggctatcaacttagtcaa	11	8	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:54080238C>T	ENST00000253144.9	+	7	1757	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	ZNF331_ENST00000511154.1_Missense_Mutation_p.R142C|ZNF331_ENST00000411977.2_Missense_Mutation_p.R142C|ZNF331_ENST00000511593.2_Missense_Mutation_p.R142C|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.R142C|ZNF331_ENST00000449416.1_Missense_Mutation_p.R142C|ZNF331_ENST00000513999.1_Missense_Mutation_p.R142C	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGCCTTTAGTCGTGGCTATCA	0.433			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0								ENSG00000130844						99	104	102					19																	54080238		2203	4300	6503	ZNF331	SO:0001583	missense	0			-	HGNC	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.424C>T	19.37:g.54080238C>T	ENSP00000253144:p.Arg142Cys	Somatic	0	33	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	44	22.81	Q96GJ4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R142C	ENST00000253144.9	37	c.424	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603397	0.46423	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387;ENST00000514022;ENST00000505949	T;T;T;T;T;T;T;T;T	0.61627	3.18;3.18;3.18;3.18;3.18;3.18;3.18;2.14;0.09	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003107	T	0.50752	0.1634	L	0.35249	1.045	0.09310	N	1	D	0.76494	0.999	P	0.50754	0.649	T	0.40608	-0.9554	10	0.40728	T	0.16	.	8.6448	0.33998	0.2285:0.7715:0.0:0.0	.	142	Q9NQX6	ZN331_HUMAN	C	142	ENSP00000253144:R142C;ENSP00000427439:R142C;ENSP00000393817:R142C;ENSP00000393336:R142C;ENSP00000421014:R142C;ENSP00000423156:R142C;ENSP00000421728:R142C;ENSP00000422471:R142C;ENSP00000427532:R142C	ENSP00000253144:R142C	R	+	1	0	ZNF331	58772050	0.000000	0.05858	0.960000	0.40013	0.961000	0.63080	-0.821000	0.04452	2.049000	0.60858	0.563000	0.77884	CGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	protein_coding	OTTHUMT00000371366.1	C	NM_018555	-		54080238	1	no_errors	ENST00000253144	ensembl	human	known	74_37	missense	SNP	0.026	T	T	54080238	C	T	54080238	3	4	205	1	0	0	0	0	1	0	0	0	17856	884	31	1	434	1	ZNF331	19	54080238	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	317532	54080238	5048745	413	16934											
LILRA3	11026	genome.wustl.edu	37	chr19	54802114	54802114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcagctgccccctccttGgtcaaaaggaaagtgtgcat	10	11	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:54802114G>A	ENST00000251390.3	-	6	1165	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	LILRA3_ENST00000391745.1_Silent_p.T375T|LILRA3_ENST00000391744.3_Silent_p.T294T	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	358	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCCTCCTTGGTCAAAAGGA	0.592																																																	0								ENSG00000170866						98	86	90					19																	54802114		2194	4158	6352	LILRA3	SO:0001819	synonymous_variant	0			-	HGNC	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1074C>T	19.37:g.54802114G>A		Somatic	0	82	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	94	18.26	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP							pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.T358	ENST00000251390.3	37	c.1074	CCDS12887.1	19																																																																																			-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	protein_coding	OTTHUMT00000140236.1	G		-		54802114	-1	no_errors	ENST00000251390	ensembl	human	known	74_37	silent	SNP	0.026	A	A	54802114	G	A	54802114	2	1	205	1	0	0	0	0	0	0	0	1	8788	1335	47	2		2	LILRA3	19	54802114	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	721876	54802114	4326869	414	16935											
NLRP2	55655	genome.wustl.edu	37	chr19	55501975	55501975	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccaagaaccccattggGaatacaggggtgaagtttct	12	8	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:55501975G>A	ENST00000543010.1	+	10	2786	c.2643G>A	c.(2641-2643)ggG>ggA	p.G881G	NLRP2_ENST00000537859.1_Silent_p.G859G|NLRP2_ENST00000391721.4_Silent_p.G857G|NLRP2_ENST00000263437.6_Silent_p.G878G|NLRP2_ENST00000538819.1_Silent_p.G857G|NLRP2_ENST00000448584.2_Silent_p.G881G|NLRP2_ENST00000427260.2_Silent_p.G858G|NLRP2_ENST00000339757.7_Silent_p.G859G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	881					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCATTGGGAATACAGGGG	0.542																																																	0								ENSG00000022556						135	133	133					19																	55501975		2203	4300	6503	NLRP2	SO:0001819	synonymous_variant	0			-	HGNC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2643G>A	19.37:g.55501975G>A		Somatic	0	58	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G881	ENST00000543010.1	37	c.2643	CCDS12913.1	19																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	protein_coding	OTTHUMT00000396152.1	G	NM_017852	-		55501975	1	no_errors	ENST00000448584	ensembl	human	known	74_37	silent	SNP	0.000	A	A	55501975	G	A	55501975	2	1	205	1	0	0	0	0	0	0	0	1	10479	1161	41	2		2	NLRP2	19	55501975	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	699861	55501975	3627008	415	16936											
ZNF628	89887	genome.wustl.edu	37	chr19	55994117	55994117	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccagtgcggcctcaccttCaagtggtcgtcccactacca	10	16	2	0	rs551631262		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:55994117C>T	ENST00000598519.1	+	3	2110	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Silent_p.F515F			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	519					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)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCCTCACCTTCAAGTGGTCGT	0.682													N|||	1	0.000199681	8e-04	0	5008	,	,		10604	0		0	False		,,,				2504	0																0								ENSG00000197483						38	39	39					19																	55994117		2203	4297	6500	ZNF628	SO:0001819	synonymous_variant	0			-	HGNC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1557C>T	19.37:g.55994117C>T		Somatic	0	75	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	83	11.70	Q86X34	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F519	ENST00000598519.1	37	c.1557	CCDS33116.3	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	protein_coding	OTTHUMT00000317934.2	C	XM_058964	-		55994117	1	no_errors	ENST00000598519	ensembl	human	known	74_37	silent	SNP	1.000	T	T	55994117	C	T	55994117	2	4	205	1	0	0	0	0	0	0	0	1	18059	825	29	2		2	ZNF628	19	55994117	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	492142	55994117	3134866	416	16937											
ZSCAN18	65982	genome.wustl.edu	37	chr19	58596421	58596421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccctgcgctgtcgccGgagctagagacgccctcgag	13	16	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:58596421G>A	ENST00000240727.6	-	7	1563	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	ZSCAN18_ENST00000600404.1_Silent_p.S444S|ZSCAN18_ENST00000601144.1_Silent_p.S388S|ZSCAN18_ENST00000421612.2_Silent_p.S252S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	388					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCTGTCGCCGGAGCTAGAGA	0.736																																																	0								ENSG00000121413						14	16	16					19																	58596421		2195	4296	6491	ZSCAN18	SO:0001819	synonymous_variant	0			-	HGNC	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1164C>T	19.37:g.58596421G>A		Somatic	0	25	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP							pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S444	ENST00000240727.6	37	c.1332	CCDS12971.1	19																																																																																			-	NULL		0.736	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	protein_coding	OTTHUMT00000466706.1	G	NM_023926	-		58596421	-1	no_errors	ENST00000600404	ensembl	human	known	74_37	silent	SNP	0.000	A	A	58596421	G	A	58596421	2	1	205	1	0	0	0	0	0	0	0	1	18237	1103	39	1		1	ZSCAN18	19	58596421	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	2602304	58596421	532562	417	16938											
RPS5	6193	genome.wustl.edu	37	chr19	58904510	58904510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctcatgactgtgcgcatCgtcaagcatgccttcgagat	10	11	2	2	rs61731810	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr19:58904510C>T	ENST00000596046.1	+	2	1125	c.276C>T	c.(274-276)atC>atT	p.I92I	RPS5_ENST00000196551.3_Silent_p.I92I|RPS5_ENST00000598098.1_Intron|RPS5_ENST00000601521.1_Silent_p.I92I|RPS5_ENST00000598495.1_Silent_p.I113I|AC012313.1_ENST00000601382.1_5'Flank			P46782	RS5_HUMAN	ribosomal protein S5	92					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 translational fidelity (GO:0006450)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CTGTGCGCATCGTCAAGCATG	0.582																																																	0								ENSG00000083845						98	79	85					19																	58904510		2203	4300	6503	RPS5	SO:0001819	synonymous_variant	0			-	HGNC	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.276C>T	19.37:g.58904510C>T		Somatic	0	35	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	B2R4T2|Q96BN0	Silent	SNP							pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.I92	ENST00000596046.1	37	c.276	CCDS12978.1	19																																																																																			-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc		0.582	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	protein_coding	OTTHUMT00000467016.1	C	NM_001009	-		58904510	1	no_errors	ENST00000196551	ensembl	human	known	74_37	silent	SNP	0.899	T	T	58904510	C	T	58904510	2	4	205	1	0	0	0	0	0	0	0	1	13656	874	31	1		1	RPS5	19	58904510	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	308089	58904510	224473	418	16939											
SIRPB2	284759	genome.wustl.edu	37	chr20	1460499	1460499	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggttctgatgtccgttgGatcatgggcattaccccagg	13	9	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:1460499G>A	ENST00000359801.3	-	2	333	c.297C>T	c.(295-297)atC>atT	p.I99I	SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	92	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGTCCGTTGGATCATGGGCA	0.453																																																	0								ENSG00000196209						141	126	130					20																	1460499		1568	3582	5150	SIRPB2	SO:0001819	synonymous_variant	0			-	HGNC	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.297C>T	20.37:g.1460499G>A		Somatic	0	55	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	77	12.50	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I99	ENST00000359801.3	37	c.297	CCDS42849.1	20																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.453	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	protein_coding	OTTHUMT00000077544.1	G	NM_178459	-		1460499	-1	no_errors	ENST00000359801	ensembl	human	known	74_37	silent	SNP	0.147	A	A	1460499	G	A	1460499	2	1	205	1	0	0	0	0	0	0	0	1	14342	1164	41	2		2	SIRPB2	20	1460499	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09		1460499	61565021	419	16940											
PLCB4	5332	genome.wustl.edu	37	chr20	9370585	9370585	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagaatatcctgtaattctCtcctttgaaaatcactgcag	5	10	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:9370585C>T	ENST00000378493.1	+	13	1233	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	PLCB4_ENST00000334005.3_Silent_p.L406L|PLCB4_ENST00000414679.2_Silent_p.L406L|PLCB4_ENST00000278655.4_Silent_p.L406L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.L406L|PLCB4_ENST00000378501.2_Silent_p.L406L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	406	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTGTAATTCTCTCCTTTGAAA	0.368																																																	0								ENSG00000101333						124	122	123					20																	9370585		2203	4300	6503	PLCB4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1218C>T	20.37:g.9370585C>T		Somatic	0	22	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP							pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L406	ENST00000378493.1	37	c.1218	CCDS13105.1	20																																																																																			-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.368	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	C		-		9370585	1	no_errors	ENST00000334005	ensembl	human	known	74_37	silent	SNP	1.000	T	T	9370585	C	T	9370585	2	4	205	1	0	0	0	0	0	0	0	1	12032	900	32	2		2	PLCB4	20	9370585	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7910086	9370585	53654935	420	16941											
C20orf79	140856	genome.wustl.edu	37	chr20	18794541	18794541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcgaggttctgggttcaGttccagaacctgccatgcca	11	11	2	1	rs575292008		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:18794541G>A	ENST00000377428.2	+	1	172	c.82G>A	c.(82-84)Gtt>Att	p.V28I	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	28																	TCTGGGTTCAGTTCCAGAACC	0.517																																																	0								ENSG00000132631						90	85	86					20																	18794541		2203	4300	6503	SCP2D1	SO:0001583	missense	0			-	HGNC	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"sterol carrier protein 2-like protein"		"chromosome 20 open reading frame 79"	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.82G>A	20.37:g.18794541G>A	ENSP00000366645:p.Val28Ile	Somatic	0	39	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	50	12.28	Q548A4	Missense_Mutation	SNP							pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	p.V28I	ENST00000377428.2	37	c.82	CCDS13139.1	20	.	.	.	.	.	.	.	.	.	.	G	3.460	-0.110186	0.06924	.	.	ENSG00000132631	ENST00000377428	T	0.22539	1.95	5.85	4.89	0.63831	.	0.317484	0.27031	N	0.021262	T	0.13114	0.0318	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.18116	-1.0347	10	0.33141	T	0.24	-4.1328	12.1954	0.54294	0.0:0.0:0.8294:0.1706	.	28	Q9UJQ7	CT079_HUMAN	I	28	ENSP00000366645:V28I	ENSP00000366645:V28I	V	+	1	0	C20orf79	18742541	0.184000	0.23200	0.018000	0.16275	0.074000	0.17049	1.910000	0.39927	1.441000	0.47550	0.467000	0.42956	GTT	-	NULL		0.517	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCP2D1	protein_coding	OTTHUMT00000078193.1	G	NM_178483	-		18794541	1	no_errors	ENST00000377428	ensembl	human	known	74_37	missense	SNP	0.075	A	A	18794541	G	A	18794541	3	1	205	1	0	0	0	0	1	0	0	0	2121	1029	36	2	84	2	C20orf79	20	18794541	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	9423956	18794541	44230979	421	16942											
CST1	1469	genome.wustl.edu	37	chr20	23728456	23728456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggcacagatccctaGgattcttgacacctggattt	10	11	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:23728456G>A	ENST00000304749.2	-	3	493	c.423C>T	c.(421-423)tcC>tcT	p.S141S	CST1_ENST00000398402.1_Silent_p.S141S	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	141					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S141*(1)|p.S141S(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGATCCCTAGGATTCTTGAC	0.587																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(2)						ENSG00000170373						103	88	93					20																	23728456		2203	4300	6503	CST1	SO:0001819	synonymous_variant	0			-	HGNC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.423C>T	20.37:g.23728456G>A		Somatic	0	62	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	Q96LE6|Q9UCQ6	Silent	SNP							pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.S141	ENST00000304749.2	37	c.423	CCDS13160.1	20																																																																																			-	NULL		0.587	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	protein_coding	OTTHUMT00000078351.2	G	NM_001898	-		23728456	-1	no_errors	ENST00000304749	ensembl	human	known	74_37	silent	SNP	0.000	A	A	23728456	G	A	23728456	2	1	205	1	0	0	0	0	0	0	0	1	3972	987	35	2		2	CST1	20	23728456	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4933915	23728456	39297064	422	16943											
MYH7B	57644	genome.wustl.edu	37	chr20	33572897	33572897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccgcattcactttggtcCctctgggaagctggcatccg	10	14	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:33572897C>T	ENST00000262873.7	+	11	988	c.896C>T	c.(895-897)cCc>cTc	p.P299L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	257	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACTTTGGTCCCTCTGGGAAG	0.667																																																	0								ENSG00000078814						72	77	76					20																	33572897		2106	4219	6325	MYH7B	SO:0001583	missense	0			-	HGNC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.896C>T	20.37:g.33572897C>T	ENSP00000262873:p.Pro299Leu	Somatic	1	114	0.87		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	139	12.58	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P299L	ENST00000262873.7	37	c.896	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912210	0.72983	.	.	ENSG00000078814	ENST00000262873	D	0.86164	-2.08	5.15	5.15	0.70609	Myosin head, motor domain (2);	0.000000	0.35555	N	0.003129	D	0.84456	0.5476	N	0.21282	0.65	0.58432	D	0.999999	P	0.43578	0.811	P	0.46419	0.516	D	0.85476	0.1176	10	0.48119	T	0.1	.	18.9917	0.92794	0.0:1.0:0.0:0.0	.	257	A7E2Y1	MYH7B_HUMAN	L	299	ENSP00000262873:P299L	ENSP00000262873:P299L	P	+	2	0	MYH7B	33036558	0.658000	0.27402	1.000000	0.80357	0.972000	0.66771	3.925000	0.56484	2.555000	0.86185	0.655000	0.94253	CCC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.667	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	protein_coding	OTTHUMT00000078833.2	C	NM_020884	-		33572897	1	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	SNP	0.989	T	T	33572897	C	T	33572897	3	4	205	1	0	0	0	0	1	0	0	0	10042	623	22	2	938	2	MYH7B	20	33572897	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	9844441	33572897	29452623	423	16944											
TRPC4AP	26133	genome.wustl.edu	37	chr20	33632313	33632313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggagactttaccttgaTtgatttcagctgcagaaggc	10	8	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:33632313T>G	ENST00000252015.2	-	7	949	c.860A>C	c.(859-861)aAt>aCt	p.N287T	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.N248T|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.N287T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	287	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)			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)			TTTACCTTGATTGATTTCAGC	0.378																																																	0								ENSG00000100991						89	91	90					20																	33632313		2203	4300	6503	TRPC4AP	SO:0001583	missense	0			-	HGNC	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.860A>C	20.37:g.33632313T>G	ENSP00000252015:p.Asn287Thr	Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP							pfam_DUF3689	p.N287T	ENST00000252015.2	37	c.860	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638110	0.87760	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	T;T;T	0.30981	1.51;1.51;1.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.83275	0.984;0.996;0.996	T	0.56860	-0.7909	10	0.87932	D	0	.	16.043	0.80698	0.0:0.0:0.0:1.0	.	248;287;287	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	T	287;287;248;272	ENSP00000252015:N287T;ENSP00000400614:N287T;ENSP00000400497:N248T	ENSP00000252015:N287T	N	-	2	0	TRPC4AP	33095974	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.783000	0.85696	2.187000	0.69744	0.477000	0.44152	AAT	-	NULL		0.378	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	protein_coding	OTTHUMT00000078832.2	T	NM_015638	-		33632313	-1	no_errors	ENST00000252015	ensembl	human	known	74_37	missense	SNP	1.000	G	G	33632313	T	G	33632313	3	3	205	1	0	0	0	0	1	0	0	0	16588	1493	52	5	1585	5	TRPC4AP	20	33632313	Missense_Mutation	SNP	T	TCGA-QQ-A8VG-01A-11D-A37C-09	59416	33632313	29393207	424	16945											
RPN2	6185	genome.wustl.edu	37	chr20	35826834	35826834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagatctaaccttgatcCcagcaatgtggattccctct	6	13	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:35826834C>T	ENST00000237530.6	+	3	553	c.242C>T	c.(241-243)cCc>cTc	p.P81L	RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	81					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AACCTTGATCCCAGCAATGTG	0.493																																																	0								ENSG00000118705						147	123	131					20																	35826834		2203	4300	6503	RPN2	SO:0001583	missense	0			-	HGNC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.242C>T	20.37:g.35826834C>T	ENSP00000237530:p.Pro81Leu	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP							pfam_Swp1	p.P81L	ENST00000237530.6	37	c.242	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588764	0.66105	.	.	ENSG00000118705	ENST00000237530;ENST00000373632;ENST00000338768	T;T	0.42513	0.97;0.97	5.25	4.31	0.51392	.	0.239125	0.43579	D	0.000543	T	0.35799	0.0944	L	0.44542	1.39	0.80722	D	1	P;P	0.36086	0.536;0.536	B;B	0.40256	0.324;0.229	T	0.07539	-1.0767	10	0.15499	T	0.54	-10.3348	11.3069	0.49340	0.0:0.9132:0.0:0.0868	.	81;81	P04844;B2RE46	RPN2_HUMAN;.	L	81	ENSP00000237530:P81L;ENSP00000362735:P81L	ENSP00000237530:P81L	P	+	2	0	RPN2	35260248	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.383000	0.66219	1.444000	0.47605	0.563000	0.77884	CCC	-	pfam_Swp1		0.493	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	protein_coding	OTTHUMT00000079076.2	C	NM_002951	-		35826834	1	no_errors	ENST00000237530	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35826834	C	T	35826834	3	4	205	1	0	0	0	0	1	0	0	0	13616	623	22	2	252	2	RPN2	20	35826834	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	2194521	35826834	27198686	425	16946											
ZNF335	63925	genome.wustl.edu	37	chr20	44582452	44582452	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtcaggagggcctagctGgctctcggctgctgcaccgc	15	13	2	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr20:44582452G>A	ENST00000322927.2	-	18	2678	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*	ZNF335_ENST00000426788.1_Nonsense_Mutation_p.Q705*	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	860					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCCTAGCTGGCTCTCGGCT	0.647																																																	0								ENSG00000198026						74	63	66					20																	44582452		2203	4300	6503	ZNF335	SO:0001587	stop_gained	0			-	HGNC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2578C>T	20.37:g.44582452G>A	ENSP00000325326:p.Gln860*	Somatic	0	56	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	77	17.20	B4DLG7|Q548D0|Q9H684	Nonsense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q860*	ENST00000322927.2	37	c.2578	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.162494	0.97338	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	.	.	.	5.15	4.2	0.49525	.	0.235442	0.34700	N	0.003758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-17.6722	13.346	0.60573	0.0:0.1576:0.8424:0.0	.	.	.	.	X	860;637;705	.	ENSP00000243961:Q637X	Q	-	1	0	ZNF335	44015859	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	4.736000	0.62059	1.400000	0.46741	0.655000	0.94253	CAG	-	NULL		0.647	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	G	NM_022095	-		44582452	-1	no_errors	ENST00000322927	ensembl	human	known	74_37	nonsense	SNP	0.971	A	A	44582452	G	A	44582452	4	1	205	1	0	0	0	0	0	1	0	0	17859	1357	47	2	1494	2	ZNF335	20	44582452	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	8755618	44582452	18443068	426	16947											
CHODL	140578	genome.wustl.edu	37	chr21	19629360	19629360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaccaaccaactgccaatCctggccttgggggtccctac	8	16	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr21:19629360C>T	ENST00000299295.2	+	3	854	c.463C>T	c.(463-465)Cct>Tct	p.P155S	CHODL_ENST00000543733.1_Missense_Mutation_p.P136S|CHODL_ENST00000400128.1_Missense_Mutation_p.P114S|CHODL_ENST00000338326.3_Missense_Mutation_p.P114S|CHODL_ENST00000400131.1_Missense_Mutation_p.P114S|CHODL_ENST00000400127.1_Missense_Mutation_p.P114S|CHODL_ENST00000400135.1_Missense_Mutation_p.P114S	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	155	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AACTGCCAATCCTGGCCTTGG	0.438																																																	0								ENSG00000154645						92	87	89					21																	19629360		2203	4300	6503	CHODL	SO:0001583	missense	0			-	HGNC	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.463C>T	21.37:g.19629360C>T	ENSP00000299295:p.Pro155Ser	Somatic	0	41	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	35	14.63	B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P155S	ENST00000299295.2	37	c.463	CCDS13570.1	21	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345987	0.82022	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19250	2.19;2.16;2.16;2.19;2.16;2.16;2.18	5.57	5.57	0.84162	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.047421	0.85682	D	0.000000	T	0.36963	0.0986	L	0.35644	1.08	0.53688	D	0.999973	P;D;D	0.76494	0.798;0.999;0.959	B;D;P	0.68943	0.285;0.961;0.749	T	0.01657	-1.1302	9	.	.	.	-14.685	18.5511	0.91065	0.0:1.0:0.0:0.0	.	155;136;114	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	S	114;114;114;114;155;114;136	ENSP00000382993:P114S;ENSP00000382996:P114S;ENSP00000383001:P114S;ENSP00000382992:P114S;ENSP00000299295:P155S;ENSP00000339975:P114S;ENSP00000443566:P136S	.	P	+	1	0	CHODL	18551231	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.748000	0.55142	2.619000	0.88677	0.650000	0.86243	CCT	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.438	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	protein_coding	OTTHUMT00000158232.1	C	NM_024944	-		19629360	1	no_errors	ENST00000299295	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19629360	C	T	19629360	3	4	205	1	0	0	0	0	1	0	0	0	3366	855	30	2	473	2	CHODL	21	19629360	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		19629360	28500535	427	16948											
GRIK1	2897	genome.wustl.edu	37	chr21	30959769	30959769	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggagacagggggttgagGaaggagaaaacgcctggatt	17	5	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr21:30959769G>A	ENST00000399907.1	-	12	2121	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	GRIK1_ENST00000399909.1_Silent_p.F555F|GRIK1_ENST00000389124.2_Silent_p.F570F|GRIK1_ENST00000309434.7_Silent_p.F572F|GRIK1_ENST00000535441.1_Silent_p.F572F|GRIK1_ENST00000327783.4_Silent_p.F570F|GRIK1_ENST00000399914.1_Silent_p.F555F|GRIK1_ENST00000389125.3_Silent_p.F555F|GRIK1_ENST00000399913.1_Silent_p.F570F	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	570					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGGGGTTGAGGAAGGAGAAAA	0.483																																																	0								ENSG00000171189						96	81	86					21																	30959769		2203	4300	6503	GRIK1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1710C>T	21.37:g.30959769G>A		Somatic	0	44	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q13001|Q86SU9	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F572	ENST00000399907.1	37	c.1716	CCDS42913.1	21																																																																																			-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.483	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	protein_coding	OTTHUMT00000171979.1	G		-		30959769	-1	no_errors	ENST00000535441	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30959769	G	A	30959769	2	1	205	1	0	0	0	0	0	0	0	1	6775	1165	41	2		2	GRIK1	21	30959769	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	11330409	30959769	17170126	428	16949											
LRRC3	81543	genome.wustl.edu	37	chr21	45877037	45877037	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgactctgtggacgagatCgcctgccacacctcagtgca	10	16	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr21:45877037C>T	ENST00000291592.4	+	2	827	c.510C>T	c.(508-510)atC>atT	p.I170I	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	170						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TGGACGAGATCGCCTGCCACA	0.657																																																	0								ENSG00000160233						63	62	63					21																	45877037		2203	4300	6503	LRRC3	SO:0001819	synonymous_variant	0			-	HGNC	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.510C>T	21.37:g.45877037C>T		Somatic	0	48	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	31.82	Q0VDJ2	Silent	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.I170	ENST00000291592.4	37	c.510	CCDS13711.1	21																																																																																			-	NULL		0.657	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC3	protein_coding	OTTHUMT00000098095.3	C		-		45877037	1	no_errors	ENST00000291592	ensembl	human	known	74_37	silent	SNP	0.550	T	T	45877037	C	T	45877037	2	4	205	1	0	0	0	0	0	0	0	1	8986	874	31	1		1	LRRC3	21	45877037	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	14917268	45877037	2252858	429	16950											
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46067223	46067223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgccgccccgcaagctCccgcctggcctgctacagcc	9	22	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr21:46067223C>T	ENST00000334670.8	+	1	893	c.848C>T	c.(847-849)tCc>tTc	p.S283F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	283						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCGCAAGCTCCCGCCTGGCC	0.647																																																	0								ENSG00000243489						35	43	40					21																	46067223		2191	4276	6467	KRTAP10-11	SO:0001583	missense	0			-	HGNC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.848C>T	21.37:g.46067223C>T	ENSP00000334197:p.Ser283Phe	Somatic	0	128	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	A2RRF9	Missense_Mutation	SNP							NULL	p.S283F	ENST00000334670.8	37	c.848	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	9.066	0.995651	0.19043	.	.	ENSG00000243489	ENST00000334670	T	0.00832	5.64	3.87	2.94	0.34122	.	.	.	.	.	T	0.03739	0.0106	M	0.76170	2.325	0.09310	N	1	D	0.59767	0.986	P	0.59825	0.864	T	0.26744	-1.0094	9	0.62326	D	0.03	.	10.5927	0.45318	0.0:0.7436:0.2564:0.0	.	283	P60412	KR10B_HUMAN	F	283	ENSP00000334197:S283F	ENSP00000334197:S283F	S	+	2	0	KRTAP10-11	44891651	0.005000	0.15991	0.005000	0.12908	0.013000	0.08279	0.339000	0.19875	1.704000	0.51252	0.462000	0.41574	TCC	-	NULL		0.647	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	protein_coding	OTTHUMT00000128029.1	C	NM_198692	-		46067223	1	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	SNP	0.002	T	T	46067223	C	T	46067223	3	4	205	1	0	0	0	0	1	0	0	0	8509	855	30	2	850	2	KRTAP10-11	21	46067223	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	190186	46067223	2062672	430	16951											
SEC14L4	284904	genome.wustl.edu	37	chr22	30887889	30887889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccgcggcccacggacctCgtgtgctcatactgcagcct	12	16	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:30887889C>T	ENST00000255858.7	-	10	926	c.843G>A	c.(841-843)acG>acA	p.T281T	SEC14L4_ENST00000392772.2_Silent_p.T227T|SEC14L4_ENST00000381982.3_Silent_p.T281T|SEC14L4_ENST00000540456.1_Silent_p.T266T|RP4-539M6.14_ENST00000442126.1_RNA|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	281	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCACGGACCTCGTGTGCTCAT	0.622																																																	0								ENSG00000133488						41	35	37					22																	30887889		2203	4300	6503	SEC14L4	SO:0001819	synonymous_variant	0			-	HGNC	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.843G>A	22.37:g.30887889C>T		Somatic	0	61	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	52	28.77	A5D6W7|A6NCV4	Silent	SNP							pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.T281	ENST00000255858.7	37	c.843	CCDS13878.1	22																																																																																			-	superfamily_GOLD,pfscan_GOLD		0.622	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	protein_coding	OTTHUMT00000321946.1	C	NM_174977	-		30887889	-1	no_errors	ENST00000255858	ensembl	human	known	74_37	silent	SNP	0.000	T	T	30887889	C	T	30887889	2	4	205	1	0	0	0	0	0	0	0	1	13992	871	31	1		1	SEC14L4	22	30887889	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		30887889	20416677	431	16952											
C22orf42	150297	genome.wustl.edu	37	chr22	32548573	32548573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtcatattctcctcCacaccgccgtgtgcagacgc	8	15	3	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:32548573C>T	ENST00000382097.3	-	3	420	c.348G>A	c.(346-348)gtG>gtA	p.V116V	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	116										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TATTCTCCTCCACACCGCCGT	0.458																																																	0								ENSG00000205856						43	52	49					22																	32548573		2201	4299	6500	C22orf42	SO:0001819	synonymous_variant	0			-	HGNC	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.348G>A	22.37:g.32548573C>T		Somatic	0	49	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	77	17.20	A4QPH5	Silent	SNP							NULL	p.V116	ENST00000382097.3	37	c.348	CCDS33639.1	22																																																																																			-	NULL		0.458	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	protein_coding	OTTHUMT00000075268.2	C	NM_001010859	-		32548573	-1	no_errors	ENST00000382097	ensembl	human	known	74_37	silent	SNP	0.003	T	T	32548573	C	T	32548573	2	4	205	1	0	0	0	0	0	0	0	1	2151	581	21	2		2	C22orf42	22	32548573	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1660684	32548573	18755993	432	16953											
NCF4	4689	genome.wustl.edu	37	chr22	37273721	37273721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaccgggacgctgagggGgatctggttcggctgctgtc	16	9	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:37273721G>A	ENST00000248899.6	+	10	1060	c.876G>A	c.(874-876)ggG>ggA	p.G292G	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	292	OPR.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	ACGCTGAGGGGGATCTGGTTC	0.597																																																	0								ENSG00000100365						62	59	60					22																	37273721		2203	4300	6503	NCF4	SO:0001819	synonymous_variant	0			-	HGNC	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.876G>A	22.37:g.37273721G>A		Somatic	0	59	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	70	14.63	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP							pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.G292	ENST00000248899.6	37	c.876	CCDS13934.1	22																																																																																			-	pfam_OPR_PB1,smart_OPR_PB1		0.597	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	protein_coding	OTTHUMT00000318863.1	G	NM_000631	-		37273721	1	no_errors	ENST00000248899	ensembl	human	known	74_37	silent	SNP	0.952	A	A	37273721	G	A	37273721	2	1	205	1	0	0	0	0	0	0	0	1	10220	1219	43	2		2	NCF4	22	37273721	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	4725148	37273721	14030845	433	16954											
IL2RB	3560	genome.wustl.edu	37	chr22	37532306	37532306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaggggctggctccagGggctccaggtcgtgaactcg	17	12	0	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:37532306G>A	ENST00000216223.5	-	7	863	c.665C>T	c.(664-666)cCc>cTc	p.P222L	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	222	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGGCTCCAGGGGCTCCAGGT	0.647																																																	0								ENSG00000100385						26	28	28					22																	37532306		2203	4300	6503	IL2RB	SO:0001583	missense	0			-	HGNC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.665C>T	22.37:g.37532306G>A	ENSP00000216223:p.Pro222Leu	Somatic	0	106	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	110	22.54	B2R765	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P222L	ENST00000216223.5	37	c.665	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982155	0.34942	.	.	ENSG00000100385	ENST00000216223	D	0.96334	-3.98	4.5	2.35	0.29111	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.374117	0.27000	N	0.021440	D	0.91576	0.7339	L	0.43152	1.355	0.48452	D	0.999656	D	0.53745	0.962	B	0.40009	0.316	D	0.88223	0.2898	10	0.59425	D	0.04	-19.3523	4.7807	0.13201	0.1038:0.0:0.511:0.3852	.	222	P14784	IL2RB_HUMAN	L	222	ENSP00000216223:P222L	ENSP00000216223:P222L	P	-	2	0	IL2RB	35862252	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.102000	0.41796	0.858000	0.35431	0.462000	0.41574	CCC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	protein_coding	OTTHUMT00000318792.1	G		-		37532306	-1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37532306	G	A	37532306	3	1	205	1	0	0	0	0	1	0	0	0	7689	1232	43	2	1006	2	IL2RB	22	37532306	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	258585	37532306	13772260	434	16955											
TRIOBP	11078	genome.wustl.edu	37	chr22	38121467	38121467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcctcctttggccccacCcagtacaacttgccatcccg	6	19	0	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:38121467C>T	ENST00000406386.3	+	7	3159	c.2904C>T	c.(2902-2904)acC>acT	p.T968T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	968					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTGGCCCCACCCAGTACAACT	0.642																																																	0								ENSG00000100106						117	138	131					22																	38121467		2055	4204	6259	TRIOBP	SO:0001819	synonymous_variant	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2904C>T	22.37:g.38121467C>T		Somatic	0	38	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T968	ENST00000406386.3	37	c.2904	CCDS43015.1	22																																																																																			-	NULL		0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	C		-		38121467	1	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	SNP	0.000	T	T	38121467	C	T	38121467	2	4	205	1	0	0	0	0	0	0	0	1	16560	610	22	2		2	TRIOBP	22	38121467	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	589161	38121467	13183099	435	16956											
PDGFB	5155	genome.wustl.edu	37	chr22	39626130	39626130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcttcgggtcacaggcCgtgcagctgccactgtctca	13	15	2	0	rs146204796	byFrequency	TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:39626130C>T	ENST00000331163.6	-	5	1347	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	PDGFB_ENST00000381551.4_Missense_Mutation_p.R172Q	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	187					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGTCACAGGCCGTGCAGCTGC	0.617			T	COL1A1	DFSP								C|||	2	0.000399361	0.0015	0	5008	,	,		14595	0		0	False		,,,				2504	0							Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0								ENSG00000100311	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	59	59	59		560,515	3.6	0.1	22	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense	PDGFB	NM_002608.2,NM_033016.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	187/242,172/227	39626130	2,13004	2203	4300	6503	PDGFB	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.560G>A	22.37:g.39626130C>T	ENSP00000330382:p.Arg187Gln	Somatic	0	84	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	90	21.05	G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP							pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.R187Q	ENST00000331163.6	37	c.560	CCDS13987.1	22	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.17	3.565045	0.65651	4.54E-4	0.0	ENSG00000100311	ENST00000331163;ENST00000381551	T;T	0.44083	0.93;0.94	4.65	3.61	0.41365	.	3.738860	0.02873	U	0.131873	T	0.24470	0.0593	N	0.19112	0.55	0.09310	N	0.999994	P;P	0.39352	0.513;0.669	B;B	0.25291	0.033;0.059	T	0.15694	-1.0428	10	0.27785	T	0.31	-19.4671	6.2833	0.21019	0.0:0.6893:0.2081:0.1026	.	187;172	P01127;G3XAG8	PDGFB_HUMAN;.	Q	187;172	ENSP00000330382:R187Q;ENSP00000370963:R172Q	ENSP00000330382:R187Q	R	-	2	0	PDGFB	37956076	0.004000	0.15560	0.133000	0.22050	0.721000	0.41392	0.282000	0.18829	2.308000	0.77769	0.561000	0.74099	CGG	-	NULL		0.617	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFB	protein_coding	OTTHUMT00000321043.1	C	NM_002608	rs146204796		39626130	-1	no_errors	ENST00000331163	ensembl	human	known	74_37	missense	SNP	0.101	T	T	39626130	C	T	39626130	3	4	205	1	0	0	0	0	1	0	0	0	11660	652	23	1	173	1	PDGFB	22	39626130	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	1504663	39626130	11678436	436	16957											
MPPED1	758	genome.wustl.edu	37	chr22	43831086	43831086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatccacgctggggacttCactgagctggggctcccgag	14	13	1	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:43831086C>T	ENST00000417669.2	+	3	801	c.357C>T	c.(355-357)ttC>ttT	p.F119F	MPPED1_ENST00000414469.2_Silent_p.F13F|MPPED1_ENST00000443721.1_Silent_p.F119F|MPPED1_ENST00000542779.1_Silent_p.F119F|MPPED1_ENST00000538182.1_Silent_p.F152F|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	119							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGGGGACTTCACTGAGCTGG	0.657																																																	0								ENSG00000186732						63	74	70					22																	43831086		2071	4193	6264	MPPED1	SO:0001819	synonymous_variant	0			-	HGNC	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.357C>T	22.37:g.43831086C>T		Somatic	0	75	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	60	23.75	A8K159|B7Z2S9|Q8N361	Silent	SNP							pfam_PEstase_dom	p.F152	ENST00000417669.2	37	c.456	CCDS46723.1	22																																																																																			-	pfam_PEstase_dom		0.657	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	protein_coding	OTTHUMT00000318938.2	C	NM_001044370	-		43831086	1	no_errors	ENST00000538182	ensembl	human	known	74_37	silent	SNP	1.000	T	T	43831086	C	T	43831086	2	4	205	1	0	0	0	0	0	0	0	1	9743	825	29	2		2	MPPED1	22	43831086	Silent	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	4204956	43831086	7473480	437	16958											
EFCAB6	64800	genome.wustl.edu	37	chr22	44079699	44079699	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtctaaataactttgtgatGatgttttccttgtgagattc	8	5	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chr22:44079699G>A	ENST00000262726.7	-	12	1432	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	EFCAB6_ENST00000396231.2_Silent_p.I241I|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	393					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)				ACTTTGTGATGATGTTTTCCT	0.343																																																	0								ENSG00000186976						285	258	267					22																	44079699		2203	4300	6503	EFCAB6	SO:0001819	synonymous_variant	0			-	HGNC	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.1179C>T	22.37:g.44079699G>A		Somatic	0	62	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	41	22.64	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP							pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.I393	ENST00000262726.7	37	c.1179	CCDS14049.1	22																																																																																			-	NULL		0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	protein_coding	OTTHUMT00000353176.1	G	NM_022785	-		44079699	-1	no_errors	ENST00000262726	ensembl	human	known	74_37	silent	SNP	0.000	A	A	44079699	G	A	44079699	2	1	205	1	0	0	0	0	0	0	0	1	4941	1280	45	2		2	EFCAB6	22	44079699	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	248613	44079699	7224867	438	16959											
MXRA5	25878	genome.wustl.edu	37	chrX	3235787	3235787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccaggaaatttggggggCtggggtccctttggccagac	16	9	0	1	rs146622359		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:3235787C>T	ENST00000217939.6	-	6	6089	c.5935G>A	c.(5935-5937)Gcc>Acc	p.A1979T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1979	Ig-like C2-type 4.					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)				ATTTGGGGGGCTGGGGTCCCT	0.587																																																	0								ENSG00000101825						59	55	56					X																	3235787		2203	4300	6503	MXRA5	SO:0001583	missense	0			-	HGNC	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.5935G>A	X.37:g.3235787C>T	ENSP00000217939:p.Ala1979Thr	Somatic	0	46	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A1979T	ENST00000217939.6	37	c.5935	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.463820	0.01062	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66099	-0.19	3.64	1.67	0.24075	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.482604	0.14952	U	0.288846	T	0.27900	0.0687	N	0.02412	-0.56	0.09310	N	1	B	0.24618	0.107	B	0.27076	0.076	T	0.17379	-1.0371	10	0.13853	T	0.58	.	1.9323	0.03330	0.1578:0.2067:0.4562:0.1794	.	1979	Q9NR99	MXRA5_HUMAN	T	1979	ENSP00000217939:A1979T	ENSP00000217939:A1979T	A	-	1	0	MXRA5	3245787	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.182000	0.16900	0.392000	0.25172	0.600000	0.82982	GCC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	C	NM_015419	-		3235787	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	SNP	0.000	T	T	3235787	C	T	3235787	3	4	205	1	0	0	0	0	1	0	0	0	10005	797	28	2	2559	2	MXRA5	23	3235787	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09		3235787	152034773	439	16960											
MXRA5	25878	genome.wustl.edu	37	chrX	3242793	3242793	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctccactggggcagttgGaatttctccaggatgagctg	13	9	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:3242793G>A	ENST00000217939.6	-	5	1087	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	311						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)				GGGGCAGTTGGAATTTCTCCA	0.498																																																	0								ENSG00000101825						104	83	90					X																	3242793		2203	4300	6503	MXRA5	SO:0001819	synonymous_variant	0			-	HGNC	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.933C>T	X.37:g.3242793G>A		Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q6P1M7|Q9Y3Y8	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F311	ENST00000217939.6	37	c.933	CCDS14124.1	X																																																																																			-	NULL		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	G	NM_015419	-		3242793	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	SNP	0.239	A	A	3242793	G	A	3242793	2	1	205	1	0	0	0	0	0	0	0	1	10005	1165	41	2		2	MXRA5	23	3242793	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	7006	3242793	152027767	440	16961											
ZFX	7543	genome.wustl.edu	37	chrX	24229432	24229432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtactgcaagaaaggcttccGaagaccttcagaaaagaacc	9	10	1	4			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:24229432G>A	ENST00000379177.1	+	11	2784	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	ZFX_ENST00000338565.3_Missense_Mutation_p.R736Q|ZFX_ENST00000379188.3_Missense_Mutation_p.R786Q|ZFX_ENST00000539115.1_Missense_Mutation_p.R557Q|ZFX_ENST00000304543.5_Missense_Mutation_p.R786Q|ZFX_ENST00000540034.1_Missense_Mutation_p.R825Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	786					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.R786Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGGCTTCCGAAGACCTTCA	0.443																																					Esophageal Squamous(20;306 562 7346 32868 37983)												1	Substitution - Missense(1)	endometrium(1)						ENSG00000005889						81	68	72					X																	24229432		2203	4300	6503	ZFX	SO:0001583	missense	0			-	HGNC		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2357G>A	X.37:g.24229432G>A	ENSP00000368475:p.Arg786Gln	Somatic	0	20	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP							pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R825Q	ENST00000379177.1	37	c.2474	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112457	0.77210	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.53640	0.61;3.09;3.09;3.09;3.1;3.12	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000040	T	0.52996	0.1769	L	0.59436	1.845	0.54753	D	0.999983	P;P;P	0.51449	0.945;0.904;0.836	B;P;B	0.45681	0.351;0.49;0.153	T	0.59413	-0.7459	10	0.72032	D	0.01	-6.7409	18.539	0.91020	0.0:0.0:1.0:0.0	.	825;508;786	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	Q	557;786;508;786;786;825;736	ENSP00000438233:R557Q;ENSP00000368486:R786Q;ENSP00000368475:R786Q;ENSP00000304985:R786Q;ENSP00000441382:R825Q;ENSP00000343384:R736Q	ENSP00000304985:R786Q	R	+	2	0	ZFX	24139353	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.407000	0.81776	0.594000	0.82650	CGA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	protein_coding	OTTHUMT00000056084.1	G	NM_003410	-		24229432	1	no_errors	ENST00000540034	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24229432	G	A	24229432	3	1	205	1	0	0	0	0	1	0	0	0	17668	1058	37	1	2442	1	ZFX	23	24229432	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	20986639	24229432	131041128	441	16962											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766187	27766187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaagatcagtttgtaaGgatttatgaccagaggaaaa	11	4	1	3			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:27766187G>A	ENST00000451261.2	+	5	1574	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	392										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CAGTTTGTAAGGATTTATGAC	0.378																																																	0								ENSG00000189186						163	112	128					X																	27766187		692	1591	2283	DCAF8L2	SO:0001583	missense	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1175G>A	X.37:g.27766187G>A	ENSP00000462745:p.Arg392Lys	Somatic	0	23	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	B2RXH9|J3KT06	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R392K	ENST00000451261.2	37	c.1175	CCDS59162.1	X																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.378	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	G	XM_293354	-		27766187	1	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	SNP	0.979	A	A	27766187	G	A	27766187	3	1	205	1	0	0	0	0	1	0	0	0	4280	1000	35	2	1177	2	DCAF8L2	23	27766187	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	3536755	27766187	127504373	442	16963											
ZMYM3	9203	genome.wustl.edu	37	chrX	70462039	70462039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgccctttcctctggcgGactggggcatagtagcggat	13	13	1	0			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:70462039G>A	ENST00000353904.2	-	23	3970	c.3783C>T	c.(3781-3783)gtC>gtT	p.V1261V	ZMYM3_ENST00000373998.1_Silent_p.V1249V|ZMYM3_ENST00000314425.5_Silent_p.V1261V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373988.1_Silent_p.V1263V|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1261					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCCTCTGGCGGACTGGGGCAT	0.617																																																	0								ENSG00000147130						39	26	31					X																	70462039		2200	4295	6495	ZMYM3	SO:0001819	synonymous_variant	0			-	HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3783C>T	X.37:g.70462039G>A		Somatic	0	58	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	45	36.62	D3DVV3|O15089|Q96E26	Silent	SNP							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.V1263	ENST00000353904.2	37	c.3789	CCDS14409.1	X																																																																																			-	pfam_DUF3504		0.617	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	G	NM_201599	-		70462039	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	silent	SNP	0.115	A	A	70462039	G	A	70462039	2	1	205	1	0	0	0	0	0	0	0	1	17708	1161	41	2		2	ZMYM3	23	70462039	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	42695852	70462039	84808521	443	16964											
COL4A6	1288	genome.wustl.edu	37	chrX	107424153	107424153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccgggagtgcctggaaatCctgatggaccgtatgaccca	12	11	0	2			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:107424153C>T	ENST00000372216.4	-	24	2100	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	COL4A6_ENST00000394872.2_Missense_Mutation_p.G667E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G666E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G666E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G666E	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	667	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCTGGAAATCCTGATGGACC	0.488									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0								ENSG00000197565						121	100	107					X																	107424153		2203	4300	6503	COL4A6	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2000G>A	X.37:g.107424153C>T	ENSP00000361290:p.Gly667Glu	Somatic	0	32	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G667E	ENST00000372216.4	37	c.2000	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094027	0.56075	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	4.77	4.77	0.60923	.	0.000000	0.41605	D	0.000850	D	0.99694	0.9884	H	0.98295	4.195	0.47905	D	0.999545	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	0.97102	0.9798	10	0.87932	D	0	.	17.6736	0.88224	0.0:1.0:0.0:0.0	.	666;666;667;666	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	E	667;666;667;666;666;666	ENSP00000361290:G667E;ENSP00000334733:G666E;ENSP00000378340:G667E;ENSP00000443707:G666E;ENSP00000445236:G666E	ENSP00000334733:G666E	G	-	2	0	COL4A6	107310809	1.000000	0.71417	0.936000	0.37596	0.763000	0.43281	5.760000	0.68793	2.299000	0.77371	0.506000	0.49869	GGA	-	pfam_Collagen		0.488	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	protein_coding	OTTHUMT00000057875.2	C		-		107424153	-1	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	SNP	0.996	T	T	107424153	C	T	107424153	3	4	205	1	0	0	0	0	1	0	0	0	3697	855	30	2	3163	2	COL4A6	23	107424153	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	36962114	107424153	47846407	444	16965											
COL4A5	1287	genome.wustl.edu	37	chrX	107898618	107898618	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtatcaaaggttctgtgggaGatcctggtttgcccggatta	13	7	2	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:107898618G>A	ENST00000361603.2	+	37	3548	c.3304G>A	c.(3304-3306)Gat>Aat	p.D1102N	COL4A5_ENST00000328300.6_Missense_Mutation_p.D1102N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1102	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCTGTGGGAGATCCTGGTTT	0.478									Alport syndrome with Diffuse Leiomyomatosis																																								0								ENSG00000188153						80	76	77					X																	107898618		2203	4300	6503	COL4A5	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3304G>A	X.37:g.107898618G>A	ENSP00000354505:p.Asp1102Asn	Somatic	0	30	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D1102N	ENST00000361603.2	37	c.3304	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	7.943	0.743251	0.15642	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93604	-3.25;-3.25	5.52	2.75	0.32379	.	0.906441	0.09669	N	0.771433	D	0.88969	0.6582	L	0.58428	1.81	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.73572	-0.3940	10	0.16420	T	0.52	.	3.4096	0.07353	0.3713:0.1895:0.4392:0.0	.	1102;1102	E7EVY4;P29400	.;CO4A5_HUMAN	N	1102	ENSP00000331902:D1102N;ENSP00000354505:D1102N	ENSP00000331902:D1102N	D	+	1	0	COL4A5	107785274	0.995000	0.38212	0.074000	0.20217	0.564000	0.35744	1.515000	0.35845	0.606000	0.29965	0.594000	0.82650	GAT	-	pfam_Collagen		0.478	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	protein_coding	OTTHUMT00000057880.2	G		-		107898618	1	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	SNP	0.489	A	A	107898618	G	A	107898618	3	1	205	1	0	0	0	0	1	0	0	0	3696	942	33	2	3450	2	COL4A5	23	107898618	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	474465	107898618	47371942	445	16966											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994946	140994946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcctcagagccctcagGgggaggactccctgtctcct	10	15	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:140994946G>A	ENST00000285879.4	+	4	2042	c.1756G>A	c.(1756-1758)Ggg>Agg	p.G586R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	586										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCAGGGGGAGGACTC	0.587										HNSCC(15;0.026)																																							0								ENSG00000155495						232	249	243					X																	140994946		2203	4300	6503	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1756G>A	X.37:g.140994946G>A	ENSP00000285879:p.Gly586Arg	Somatic	0	43	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	26.67	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.G586R	ENST00000285879.4	37	c.1756	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	11.41	1.631021	0.28978	.	.	ENSG00000155495	ENST00000285879	T	0.02863	4.13	0.92	-0.333	0.12671	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.47037	D	0.999296	D	0.76494	0.999	D	0.83275	0.996	T	0.60141	-0.7321	9	0.87932	D	0	.	1.4078	0.02284	0.3159:0.0:0.3341:0.35	.	586	O60732	MAGC1_HUMAN	R	586	ENSP00000285879:G586R	ENSP00000285879:G586R	G	+	1	0	MAGEC1	140822612	0.019000	0.18553	0.029000	0.17559	0.029000	0.11900	0.292000	0.19011	0.179000	0.19938	0.181000	0.17075	GGG	-	NULL		0.587	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	G	NM_005462	-		140994946	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.675	A	A	140994946	G	A	140994946	3	1	205	1	0	0	0	0	1	0	0	0	9182	1232	43	2	1762	2	MAGEC1	23	140994946	Missense_Mutation	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	33096328	140994946	14275614	446	16967											
AFF2	2334	genome.wustl.edu	37	chrX	148062301	148062301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtcgcacagataccctctCcatgggtaagcaatggaaag	10	10	1	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:148062301C>T	ENST00000370460.2	+	19	4083	c.3604C>T	c.(3604-3606)Cca>Tca	p.P1202S	AFF2_ENST00000286437.5_Missense_Mutation_p.P843S|AFF2_ENST00000370457.5_Missense_Mutation_p.P1167S|AFF2_ENST00000342251.3_Missense_Mutation_p.P1169S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1202					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)			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)					GATACCCTCTCCATGGGTAAG	0.353																																																	0								ENSG00000155966						91	89	90					X																	148062301		2203	4300	6503	AFF2	SO:0001583	missense	0			-	HGNC	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.3604C>T	X.37:g.148062301C>T	ENSP00000359489:p.Pro1202Ser	Somatic	0	22	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	42.86	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP							pfam_TF_AF4/FMR2	p.P1202S	ENST00000370460.2	37	c.3604	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	8.198	0.797598	0.16327	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.74	4.88	0.63580	.	0.177981	0.48767	N	0.000177	T	0.79587	0.4471	M	0.63428	1.95	0.53688	D	0.999973	B;B;B;P;P;P	0.43024	0.001;0.003;0.0;0.759;0.759;0.798	B;B;B;B;B;B	0.38921	0.014;0.019;0.008;0.187;0.187;0.285	T	0.79478	-0.1787	10	0.49607	T	0.09	.	11.2694	0.49129	0.0:0.8045:0.1239:0.0716	.	843;1167;1167;1163;1192;1202	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	S	1202;1167;1169;843	ENSP00000359489:P1202S;ENSP00000359486:P1167S;ENSP00000345459:P1169S;ENSP00000286437:P843S	ENSP00000286437:P843S	P	+	1	0	AFF2	147869985	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	3.657000	0.54474	1.320000	0.45209	0.600000	0.82982	CCA	-	pfam_TF_AF4/FMR2		0.353	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	C	NM_002025	-		148062301	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148062301	C	T	148062301	3	4	205	1	0	0	0	0	1	0	0	0	357	855	30	2	3733	2	AFF2	23	148062301	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	7067355	148062301	7208259	447	16968											
HCFC1	3054	genome.wustl.edu	37	chrX	153222933	153222933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatggtggtgggcttgccatCtgctgaggtcaccagcttca	14	10	3	1			TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:153222933C>T	ENST00000310441.7	-	13	3151	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	HCFC1_ENST00000369984.4_Missense_Mutation_p.D729N|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.D660N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	729					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)					GGCTTGCCATCTGCTGAGGTC	0.627																																																	0								ENSG00000172534						90	90	90					X																	153222933		2133	4211	6344	HCFC1	SO:0001583	missense	0			-	HGNC		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.2185G>A	X.37:g.153222933C>T	ENSP00000309555:p.Asp729Asn	Somatic	0	63	0		0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51	Q6P4G5	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.D729N	ENST00000310441.7	37	c.2185	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.515256	0.96402	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03181	4.05;4.05;4.02	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.29908	0.895	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.42396	-0.9454	10	0.26408	T	0.33	.	17.3314	0.87265	0.0:1.0:0.0:0.0	.	729	P51610	HCFC1_HUMAN	N	729;729;660	ENSP00000309555:D729N;ENSP00000359001:D729N;ENSP00000346174:D660N	ENSP00000309555:D729N	D	-	1	0	HCFC1	152876127	1.000000	0.71417	0.939000	0.37840	0.978000	0.69477	7.318000	0.79029	2.360000	0.80028	0.600000	0.82982	GAT	-	NULL		0.627	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	C	NM_005334	-		153222933	-1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153222933	C	T	153222933	3	4	205	1	0	0	0	0	1	0	0	0	6993	913	32	2	3978	2	HCFC1	23	153222933	Missense_Mutation	SNP	C	TCGA-QQ-A8VG-01A-11D-A37C-09	5160632	153222933	2047627	448	16969											
FLNA	2316	genome.wustl.edu	37	chrX	153583286	153583286	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggccgtgtagaagatgtcGaaagtgccgtcctcattctc	13	10	2	2	rs368399445		TCGA-QQ-A8VG-01A-11D-A37C-09	TCGA-QQ-A8VG-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5b6759-0ab9-4272-b4b4-22cd138ed5a8	3f6bb728-6cc8-483f-85a4-4841d1d31718	g.chrX:153583286G>A	ENST00000369850.3	-	31	5360	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	FLNA_ENST00000422373.1_Silent_p.F1700F|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.F1700F|FLNA_ENST00000344736.4_Silent_p.F1700F	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1708					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					AGAAGATGTCGAAAGTGCCGT	0.597											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000196924	G	,	0,3791		0,0,1610,571	58	60	59		5124,5100	-4.3	0.9	X		59	1,6661		0,1,2413,1834	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,1,4023,2405	AA,AG,GG,G		0.015,0.0,0.0096	,	1708/2648,1700/2640	153583286	1,10452	2181	4248	6429	FLNA	SO:0001819	synonymous_variant	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5124C>T	X.37:g.153583286G>A		Somatic	0	39	0	1756	0.374080251328739				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	36	30.77	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F1708	ENST00000369850.3	37	c.5124	CCDS48194.1	X																																																																																			-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	G		-		153583286	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	SNP	0.965	A	A	153583286	G	A	153583286	2	1	205	1	0	0	0	0	0	0	0	1	5935	1049	37	1		1	FLNA	23	153583286	Silent	SNP	G	TCGA-QQ-A8VG-01A-11D-A37C-09	360353	153583286	1687274	449	16970											
HNRNPCL1	343069	genome.wustl.edu	37	chr1	12907990	12907990	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatattgaacgaaggcaaaGcccttatgaacagagcagcc	9	10	1	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr1:12907990G>T	ENST00000317869.6	-	2	378	c.153C>A	c.(151-153)ggC>ggA	p.G51G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	51	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CGAAGGCAAAGCCCTTATGAA	0.458																																																	0								ENSG00000179172						90	89	90					1																	12907990		2203	4297	6500	HNRNPCL1	SO:0001819	synonymous_variant	0			-	HGNC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.153C>A	1.37:g.12907990G>T		Somatic	0	283	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	290	13.43	B2RP44	Silent	SNP							pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.G51	ENST00000317869.6	37	c.153	CCDS30591.1	1																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	protein_coding	OTTHUMT00000005462.1	G	NM_001013631	-		12907990	-1	no_errors	ENST00000317869	ensembl	human	known	74_37	silent	SNP	1.000	T	T	12907990	G	T	12907990	2	4	206	1	0	0	0	0	0	0	0	1	7265	958	34	3		3	HNRNPCL1	1	12907990	Silent	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		12907990	236342631	1	16971											
NBPF1	55672	genome.wustl.edu	37	chr1	16907298	16907298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggattctctgtctacaacCagagctgagttgactttgtc	10	9	2	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr1:16907298C>T	ENST00000430580.2	-	16	2420	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	511	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTCTACAACCAGAGCTGAGT	0.463																																																	0								ENSG00000219481						1126	1132	1130					1																	16907298		2203	4300	6503	NBPF1	SO:0001819	synonymous_variant	0			-	HGNC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1533G>A	1.37:g.16907298C>T		Somatic	0	1438	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	131	1492	8.07	Q8N4E8|Q9C0H0	Silent	SNP							pfam_NBPF_dom	p.L511	ENST00000430580.2	37	c.1533		1																																																																																			-	pfam_NBPF_dom		0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	protein_coding	OTTHUMT00000106436.3	C	NM_017940	-		16907298	-1	no_errors	ENST00000430580	ensembl	human	novel	74_37	silent	SNP	0.005	T	T	16907298	C	T	16907298	2	4	206	1	0	0	0	0	0	0	0	1	10194	581	21	2		2	NBPF1	1	16907298	Silent	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	3999308	16907298	232343323	2	16972											
PTPRU	10076	genome.wustl.edu	37	chr1	29630418	29630418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagcctcctggggggctCcccgaggcgtccctgtggcc	15	17	0	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr1:29630418C>T	ENST00000345512.3	+	17	2687	c.2558C>T	c.(2557-2559)tCc>tTc	p.S853F	PTPRU_ENST00000428026.2_Missense_Mutation_p.S843F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S843F|PTPRU_ENST00000460170.2_Missense_Mutation_p.S843F|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.S843F|PTPRU_ENST00000323874.8_Missense_Mutation_p.S843F	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	853	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGGGGGCTCCCCGAGGCGT	0.647																																																	0								ENSG00000060656						35	41	39					1																	29630418		2203	4297	6500	PTPRU	SO:0001583	missense	0			-	HGNC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2558C>T	1.37:g.29630418C>T	ENSP00000334941:p.Ser853Phe	Somatic	0	65	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	33	48.44	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S853F	ENST00000345512.3	37	c.2558	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875156	0.51695	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.32988	1.45;1.49;1.49;1.49;1.43;1.49	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.995;0.995;0.991;0.997	D;D;D;P;P	0.63957	0.92;0.92;0.92;0.835;0.822	T	0.38329	-0.9666	9	.	.	.	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	843;843;843;843;853	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	F	853;843;843;843;843;843	ENSP00000334941:S853F;ENSP00000362884:S843F;ENSP00000349333:S843F;ENSP00000314987:S843F;ENSP00000392332:S843F;ENSP00000432906:S843F	.	S	+	2	0	PTPRU	29503005	1.000000	0.71417	0.955000	0.39395	0.834000	0.47266	7.535000	0.82014	2.592000	0.87571	0.561000	0.74099	TCC	-	NULL		0.647	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	C		-		29630418	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	SNP	0.999	T	T	29630418	C	T	29630418	3	4	206	1	0	0	0	0	1	0	0	0	12821	855	30	2	2624	2	PTPRU	1	29630418	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	12723120	29630418	219620203	3	16973											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161022582	161022582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgccacccactctccacctCaccacctgggaaaagaaaag	6	17	2	1	rs202221316		TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr1:161022582C>T	ENST00000368013.3	-	7	990	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E224K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E47K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	224					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E224K(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTCCACCTCACCACCTGGG	0.592													C|||	1	0.000199681	0	0.0014	5008	,	,		17359	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	ovary(2)						ENSG00000186517						37	40	39					1																	161022582		2203	4300	6503	ARHGAP30	SO:0001583	missense	0			GMAF=0.0005	HGNC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.670G>A	1.37:g.161022582C>T	ENSP00000356992:p.Glu224Lys	Somatic	0	23	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E224K	ENST00000368013.3	37	c.670	CCDS30918.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.56	1.974546	0.34848	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.32753	3.02;2.99;1.44	4.2	3.28	0.37604	.	0.687394	0.13762	N	0.364560	T	0.13841	0.0335	L	0.47016	1.485	0.30095	N	0.807953	B;B	0.25206	0.027;0.12	B;B	0.29176	0.04;0.099	T	0.15521	-1.0434	10	0.56958	D	0.05	.	9.9491	0.41628	0.0:0.7937:0.2063:0.0	.	224;224	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	K	224;224;76;47	ENSP00000356995:E224K;ENSP00000356992:E224K;ENSP00000356994:E47K	ENSP00000356992:E224K	E	-	1	0	ARHGAP30	159289206	0.990000	0.36364	0.066000	0.19879	0.454000	0.32378	4.780000	0.62382	0.973000	0.38340	-0.324000	0.08512	GAG	-	NULL		0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	protein_coding	OTTHUMT00000077090.2	C	NM_181720	rs202221316		161022582	-1	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	SNP	0.926	T	T	161022582	C	T	161022582	3	4	206	1	0	0	0	0	1	0	0	0	879	835	29	2	2659	2	ARHGAP30	1	161022582	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	131392164	161022582	88228039	4	16974											
KCNH1	3756	genome.wustl.edu	37	chr1	210977435	210977435	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acactgttgagcatctcatgGtatctgttggtgttggcata	11	7	2	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr1:210977435G>T	ENST00000271751.4	-	8	1563	c.1536C>A	c.(1534-1536)taC>taA	p.Y512*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.Y485*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	512					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCATCTCATGGTATCTGTTGG	0.468																																																	0								ENSG00000143473						168	152	158					1																	210977435		2203	4300	6503	KCNH1	SO:0001587	stop_gained	0			-	HGNC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1536C>A	1.37:g.210977435G>T	ENSP00000271751:p.Tyr512*	Somatic	0	102	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	49	37.18	B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.Y512*	ENST00000271751.4	37	c.1536	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.516838	0.98332	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.6	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8208	0.40880	0.2742:0.0:0.7258:0.0	.	.	.	.	X	512;485	.	ENSP00000271751:Y512X	Y	-	3	2	KCNH1	209044058	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.126000	0.31344	0.714000	0.32081	0.511000	0.50034	TAC	-	superfamily_cNMP-bd-like		0.468	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	protein_coding	OTTHUMT00000088332.1	G	NM_002238	-		210977435	-1	no_errors	ENST00000271751	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	210977435	G	T	210977435	4	4	206	1	0	0	0	0	0	1	0	0	8033	1256	44	3	1449	3	KCNH1	1	210977435	Nonsense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	49954853	210977435	38273186	5	16975											
LHCGR	3973	genome.wustl.edu	37	chr2	48936105	48936105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggttttcggccctgtgGccccacggaaggctccattg	12	13	0	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr2:48936105G>A	ENST00000294954.7	-	8	683	c.662C>T	c.(661-663)gCc>gTc	p.A221V	LHCGR_ENST00000344775.3_Missense_Mutation_p.A221V|LHCGR_ENST00000401907.1_Missense_Mutation_p.A221V|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.A221V|LHCGR_ENST00000403273.1_Missense_Mutation_p.A221V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	221					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)	CGGCCCTGTGGCCCCACGGAA	0.547																																																	0								ENSG00000138039						234	201	212					2																	48936105		2203	4300	6503	LHCGR	SO:0001583	missense	0			-	HGNC		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.662C>T	2.37:g.48936105G>A	ENSP00000294954:p.Ala221Val	Somatic	0	110	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	85	38.41	Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.A221V	ENST00000294954.7	37	c.662	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521523	0.85600	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D;D	0.91237	-2.81;-2.81;-1.72;-2.81;-2.81	5.04	5.04	0.67666	.	0.053409	0.85682	D	0.000000	D	0.90445	0.7008	L	0.56199	1.76	0.25284	N	0.989418	P	0.51653	0.947	P	0.48901	0.594	D	0.85095	0.0954	9	.	.	.	.	15.2364	0.73436	0.0:0.0:1.0:0.0	.	221	P22888	LSHR_HUMAN	V	221	ENSP00000344301:A221V;ENSP00000294954:A221V;ENSP00000386033:A221V;ENSP00000385847:A221V;ENSP00000385406:A221V	.	A	-	2	0	LHCGR	48789609	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	4.584000	0.60971	2.617000	0.88574	0.655000	0.94253	GCC	-	prints_TSH_rcpt		0.547	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	G	NM_000233.3	-		48936105	-1	no_errors	ENST00000294954	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48936105	G	A	48936105	3	1	206	1	0	0	0	0	1	0	0	0	8764	1203	42	2	1453	2	LHCGR	2	48936105	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		48936105	194263268	6	16976											
IFIH1	64135	genome.wustl.edu	37	chr2	163136618	163136618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgcatcaagattggcaCatagctggaaaagagacatt	9	6	1	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr2:163136618C>T	ENST00000263642.2	-	8	1924	c.1529G>A	c.(1528-1530)tGt>tAt	p.C510Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	510					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AAGATTGGCACATAGCTGGAA	0.308																																																	0								ENSG00000115267						92	88	89					2																	163136618		2202	4300	6502	IFIH1	SO:0001583	missense	0			-	HGNC	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1529G>A	2.37:g.163136618C>T	ENSP00000263642:p.Cys510Tyr	Somatic	0	92	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	42	47.50	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP							pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.C510Y	ENST00000263642.2	37	c.1529	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932007	0.73442	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.08896	3.04	5.4	5.4	0.78164	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	M	0.90082	3.085	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.45071	-0.9286	10	0.87932	D	0	-15.0688	19.5284	0.95215	0.0:1.0:0.0:0.0	.	510	Q9BYX4	IFIH1_HUMAN	Y	510	ENSP00000263642:C510Y	ENSP00000263642:C510Y	C	-	2	0	IFIH1	162844864	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.955000	0.70306	2.685000	0.91497	0.655000	0.94253	TGT	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd		0.308	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	protein_coding	OTTHUMT00000255078.2	C	NM_022168	-		163136618	-1	no_errors	ENST00000263642	ensembl	human	known	74_37	missense	SNP	1.000	T	T	163136618	C	T	163136618	3	4	206	1	0	0	0	0	1	0	0	0	7522	478	17	2	1584	2	IFIH1	2	163136618	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	114200513	163136618	80062755	7	16977											
DNAH7	56171	genome.wustl.edu	37	chr2	196799353	196799353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataactctctctaattcaaCcaaccacttctccacttgac	1	16	4	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr2:196799353C>A	ENST00000312428.6	-	21	3533	c.3433G>T	c.(3433-3435)Gtt>Ttt	p.V1145F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1145	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAATTCAACCAACCACTTC	0.363																																																	0								ENSG00000118997						187	181	183					2																	196799353		1854	4106	5960	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3433G>T	2.37:g.196799353C>A	ENSP00000311273:p.Val1145Phe	Somatic	0	59	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.V1145F	ENST00000312428.6	37	c.3433	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466661	0.43839	.	.	ENSG00000118997	ENST00000312428	T	0.57107	0.42	5.72	2.77	0.32553	Dynein heavy chain, domain-2 (1);	0.239703	0.34223	N	0.004149	T	0.48077	0.1480	L	0.51422	1.61	0.80722	D	1	B	0.10296	0.003	B	0.15870	0.014	T	0.35226	-0.9797	10	0.28530	T	0.3	.	17.1738	0.86836	0.0:0.5584:0.4416:0.0	.	1145	Q8WXX0	DYH7_HUMAN	F	1145	ENSP00000311273:V1145F	ENSP00000311273:V1145F	V	-	1	0	DNAH7	196507598	0.128000	0.22383	0.998000	0.56505	0.994000	0.84299	0.160000	0.16462	0.228000	0.21019	0.655000	0.94253	GTT	-	pfam_Dynein_heavy_dom-2		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-		196799353	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	A	A	196799353	C	A	196799353	3	1	206	1	0	0	0	0	1	0	0	0	4608	507	18	3	8821	3	DNAH7	2	196799353	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	33662735	196799353	46400020	8	16978											
IGFBP5	3488	genome.wustl.edu	37	chr2	217559222	217559222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccgcggccgtgcagcaGggcgtgcagcggcttctcct	14	16	1	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr2:217559222G>A	ENST00000233813.4	-	1	1026	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	93	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGCAGCAGGGCGTGCAGC	0.701																																																	0								ENSG00000115461						7	7	7					2																	217559222		1863	3711	5574	IGFBP5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.277C>T	2.37:g.217559222G>A		Somatic	0	65	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	Q5U0A3	Silent	SNP							pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5	p.L93	ENST00000233813.4	37	c.277	CCDS2405.1	2																																																																																			-	superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,prints_IGFBP_1-6_chordata		0.701	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP5	protein_coding	OTTHUMT00000256674.2	G	NM_000599	-		217559222	-1	no_errors	ENST00000233813	ensembl	human	known	74_37	silent	SNP	1.000	A	A	217559222	G	A	217559222	2	1	206	1	0	0	0	0	0	0	0	1	7584	991	35	2		2	IGFBP5	2	217559222	Silent	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	20759869	217559222	25640151	9	16979											
KCNH8	131096	genome.wustl.edu	37	chr3	19432128	19432128	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgctttcaacgtcacaGtggtgagtaaagagctcccc	10	10	2	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr3:19432128G>T	ENST00000328405.2	+	6	1233	c.967G>T	c.(967-969)Gtg>Ttg	p.V323L	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	323					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						CAACGTCACAGTGGTGAGTAA	0.423																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						105	110	108					3																	19432128		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	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.967G>T	3.37:g.19432128G>T	ENSP00000328813:p.Val323Leu	Somatic	0	87	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	B7Z2I7|Q59GQ6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.V323L	ENST00000328405.2	37	c.967	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.555364	0.96514	.	.	ENSG00000183960	ENST00000328405	D	0.98135	-4.74	5.41	5.41	0.78517	Ion transport (1);	.	.	.	.	D	0.97508	0.9184	L	0.38692	1.165	0.80722	D	1	P;D	0.56287	0.902;0.975	B;P	0.60541	0.411;0.876	D	0.97205	0.9867	8	.	.	.	.	19.2076	0.93739	0.0:0.0:1.0:0.0	.	323;323	B7Z398;Q96L42	.;KCNH8_HUMAN	L	323	ENSP00000328813:V323L	.	V	+	1	0	KCNH8	19407132	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.517000	0.84864	0.650000	0.86243	GTG	-	pfam_Ion_trans_dom		0.423	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	G	NM_144633	-		19432128	1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19432128	G	T	19432128	3	4	206	1	0	0	0	0	1	0	0	0	8040	1029	36	3	989	3	KCNH8	3	19432128	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		19432128	178590302	10	16980											
KIT	3815	genome.wustl.edu	37	chr4	55603360	55603360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgacataatgaagactTgctgggatgcagatccccta	11	8	0	4			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr4:55603360T>C	ENST00000288135.5	+	20	2813	c.2716T>C	c.(2716-2718)Tgc>Cgc	p.C906R		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	906	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	AATGAAGACTTGCTGGGATGC	0.433		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																														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								ENSG00000157404						126	110	116					4																	55603360		2203	4300	6503	KIT	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)	-	HGNC	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.2716T>C	4.37:g.55603360T>C	ENSP00000288135:p.Cys906Arg	Somatic	0	28	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP							pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C906R	ENST00000288135.5	37	c.2716	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976496	0.74360	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.90004	-2.6;-2.6	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.092585	0.47852	D	0.000209	D	0.96291	0.8790	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.981	D	0.97620	1.0135	10	0.87932	D	0	.	15.7887	0.78332	0.0:0.0:0.0:1.0	.	902;906	P10721-2;P10721	.;KIT_HUMAN	R	906;902	ENSP00000288135:C906R;ENSP00000390987:C902R	ENSP00000288135:C906R	C	+	1	0	KIT	55298117	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.040000	0.89188	2.193000	0.70182	0.528000	0.53228	TGC	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.433	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	T		-		55603360	1	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	SNP	1.000	C	C	55603360	T	C	55603360	3	2	206	1	0	0	0	0	1	0	0	0	8331	1812	63	5	2794	5	KIT	4	55603360	Missense_Mutation	SNP	T	TCGA-QQ-A8VH-01A-11D-A37C-09		55603360	135550916	11	16981											
SLC4A4	8671	genome.wustl.edu	37	chr4	72412066	72412066	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttgttatctctttctacaGaaaggagcagggtatcactt	8	7	3	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr4:72412066G>A	ENST00000264485.5	+	19	2559		c.e19-1		SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TCTTTCTACAGAAAGGAGCAG	0.433																																																	0								ENSG00000080493						214	182	193					4																	72412066		2203	4300	6503	SLC4A4	SO:0001630	splice_region_variant	0			-	HGNC	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2443-1G>A	4.37:g.72412066G>A		Somatic	0	103	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	38	47.95	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP							-	e18-1	ENST00000264485.5	37	c.2443-1	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723939	0.89298	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5157	0.95162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72630930	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.869000	0.99810	2.602000	0.87976	0.650000	0.86243	.	-	-		0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	protein_coding	OTTHUMT00000362090.1	G	NM_003759	-	Intron	72412066	1	no_errors	ENST00000425175	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	72412066	G	A	72412066	5	1	206	1	0	0	0	0	0	0	1	0	14664	956	33	2	2633	2	SLC4A4	4	72412066	Splice_Site	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	16808706	72412066	118742210	12	16982											
APC	324	genome.wustl.edu	37	chr5	112128170	112128170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagccagaattcagcaaatcGaaaaggacatacttcgtata	7	8	1	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr5:112128170G>A	ENST00000457016.1	+	7	1053	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	APC_ENST00000508376.2_Missense_Mutation_p.E225K|APC_ENST00000257430.4_Missense_Mutation_p.E225K			P25054	APC_HUMAN	adenomatous polyposis coli	225	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAGCAAATCGAAAAGGACAT	0.313		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	0			GRCh37	CM023006	APC	M		ENSG00000134982						74	72	73					5																	112128170		2202	4300	6502	APC	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	-	HGNC	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.673G>A	5.37:g.112128170G>A	ENSP00000413133:p.Glu225Lys	Somatic	0	83	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	36	49.32	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP							pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E225K	ENST00000457016.1	37	c.673	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535380	0.85812	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.19	5.19	0.71726	.	0.103447	0.64402	D	0.000005	D	0.94866	0.8341	M	0.73598	2.24	0.50813	D	0.999898	D	0.89917	1.0	D	0.64687	0.928	D	0.95164	0.8284	10	0.72032	D	0.01	-6.6066	19.0649	0.93106	0.0:0.0:1.0:0.0	.	225	P25054	APC_HUMAN	K	225	ENSP00000413133:E225K;ENSP00000257430:E225K;ENSP00000427089:E225K;ENSP00000423828:E225K	ENSP00000257430:E225K	E	+	1	0	APC	112156069	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	6.841000	0.75374	2.568000	0.86640	0.650000	0.86243	GAA	-	NULL		0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	G	NM_000038	-		112128170	1	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112128170	G	A	112128170	3	1	206	1	0	0	0	0	1	0	0	0	763	1059	37	1	695	1	APC	5	112128170	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		112128170	68787090	13	16983											
ZBTB12	221527	genome.wustl.edu	37	chr6	31868321	31868321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcggtggggctacagtGctggggggaacgctgctctg	18	11	1	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr6:31868321G>C	ENST00000375527.2	-	2	937	c.762C>G	c.(760-762)agC>agG	p.S254R	C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375537.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	254	Gly-rich.				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(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCTACAGTGCTGGGGGGAA	0.682																																																	0								ENSG00000204366						21	22	21					6																	31868321		1860	3682	5542	ZBTB12	SO:0001583	missense	0			-	HGNC	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.762C>G	6.37:g.31868321G>C	ENSP00000364677:p.Ser254Arg	Somatic	0	80	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	67	40.71	B0UY00|Q5JQ98	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S254R	ENST00000375527.2	37	c.762	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	G	6.273	0.418389	0.11870	.	.	ENSG00000204366	ENST00000375527	T	0.12984	2.63	3.7	2.73	0.32206	.	0.478737	0.21100	U	0.080172	T	0.02083	0.0065	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	10	0.16896	T	0.51	.	8.4715	0.32988	0.0:0.0:0.534:0.466	.	254	Q9Y330	ZBT12_HUMAN	R	254	ENSP00000364677:S254R	ENSP00000364677:S254R	S	-	3	2	ZBTB12	31976300	0.010000	0.17322	0.998000	0.56505	0.853000	0.48598	1.158000	0.31737	1.611000	0.50210	0.313000	0.20887	AGC	-	NULL		0.682	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	protein_coding	OTTHUMT00000076315.2	G	NM_181842	-		31868321	-1	no_errors	ENST00000375527	ensembl	human	known	74_37	missense	SNP	0.004	C	C	31868321	G	C	31868321	3	2	206	1	0	0	0	0	1	0	0	0	17532	1310	46	4	621	4	ZBTB12	6	31868321	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		31868321	139246746	14	16984											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33411019	33411019	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctctcccaggggagtggctCatccatcacggcggctggca	13	15	3	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr6:33411019C>T	ENST00000418600.2	+	15	2791	c.2690C>T	c.(2689-2691)tCa>tTa	p.S897L	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S838L|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S897L|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	897					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						GGGAGTGGCTCATCCATCACG	0.677																																																	0								ENSG00000197283						65	65	65					6																	33411019		2201	4298	6499	SYNGAP1	SO:0001583	missense	0			-	HGNC	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.2690C>T	6.37:g.33411019C>T	ENSP00000403636:p.Ser897Leu	Somatic	0	72	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP							pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.S897L	ENST00000418600.2	37	c.2690	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452566	0.43531	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.12672	2.66;2.66;2.66	4.45	3.56	0.40772	.	0.523732	0.18978	N	0.125952	T	0.07052	0.0179	L	0.34521	1.04	0.32522	N	0.536111	P;P;P	0.47841	0.901;0.879;0.879	P;P;P	0.50270	0.636;0.503;0.503	T	0.23476	-1.0187	10	0.27785	T	0.31	.	10.1441	0.42753	0.0:0.7973:0.2027:0.0	.	897;897;897	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	L	897;897;883;838	ENSP00000293748:S897L;ENSP00000403636:S897L;ENSP00000412475:S838L	ENSP00000293748:S897L	S	+	2	0	SYNGAP1	33518997	0.995000	0.38212	0.806000	0.32338	0.993000	0.82548	2.702000	0.47102	1.044000	0.40200	0.591000	0.81541	TCA	-	pfam_DUF3498		0.677	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407	-		33411019	1	no_errors	ENST00000418600	ensembl	human	known	74_37	missense	SNP	0.909	T	T	33411019	C	T	33411019	3	4	206	1	0	0	0	0	1	0	0	0	15454	838	29	2	2748	2	SYNGAP1	6	33411019	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	1542698	33411019	137704048	15	16985											
TNFRSF21	27242	genome.wustl.edu	37	chr6	47252150	47252150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taacagaggcagaagagttgGattctgttgagttcatgcct	12	6	2	4			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr6:47252150G>T	ENST00000296861.2	-	3	1160	c.767C>A	c.(766-768)tCc>tAc	p.S256Y		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	256					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AGAAGAGTTGGATTCTGTTGA	0.483																																																	0								ENSG00000146072						117	104	108					6																	47252150		2203	4300	6503	TNFRSF21	SO:0001583	missense	0			-	HGNC	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.767C>A	6.37:g.47252150G>T	ENSP00000296861:p.Ser256Tyr	Somatic	0	67	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP							pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.S256Y	ENST00000296861.2	37	c.767	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	G	12.34	1.910117	0.33721	.	.	ENSG00000146072	ENST00000296861	T	0.65549	-0.16	5.38	2.68	0.31781	.	0.548033	0.21480	N	0.073842	T	0.32971	0.0847	L	0.47716	1.5	0.34643	D	0.720872	P	0.35383	0.498	B	0.27500	0.08	T	0.12811	-1.0533	10	0.59425	D	0.04	.	10.1032	0.42517	0.2751:0.0:0.7249:0.0	.	256	O75509	TNR21_HUMAN	Y	256	ENSP00000296861:S256Y	ENSP00000296861:S256Y	S	-	2	0	TNFRSF21	47360109	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.752000	0.47516	0.415000	0.25817	0.655000	0.94253	TCC	-	NULL		0.483	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	protein_coding	OTTHUMT00000040814.1	G	NM_014452	-		47252150	-1	no_errors	ENST00000296861	ensembl	human	known	74_37	missense	SNP	0.999	T	T	47252150	G	T	47252150	3	4	206	1	0	0	0	0	1	0	0	0	16302	1174	41	3	1216	3	TNFRSF21	6	47252150	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	13841131	47252150	123862917	16	16986											
SHPRH	257218	genome.wustl.edu	37	chr6	146256227	146256227	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacacctcatgctgacGgtgatagaaatgcctttcca	9	12	1	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr6:146256227G>C	ENST00000367505.2	-	13	3070	c.2806C>G	c.(2806-2808)Cgt>Ggt	p.R936G	SHPRH_ENST00000367503.3_Missense_Mutation_p.R936G|SHPRH_ENST00000438092.2_Missense_Mutation_p.R936G|SHPRH_ENST00000275233.7_Missense_Mutation_p.R936G			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	936					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCATGCTGACGGTGATAGAAA	0.463																																																	0								ENSG00000146414						80	79	79					6																	146256227		1927	4151	6078	SHPRH	SO:0001583	missense	0			-	HGNC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2806C>G	6.37:g.146256227G>C	ENSP00000356475:p.Arg936Gly	Somatic	0	69	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.52	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.R936G	ENST00000367505.2	37	c.2806	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	31	5.067870	0.93950	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.91	5.91	0.95273	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	M	0.68593	2.085	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	D	0.84022	0.0354	10	0.66056	D	0.02	-19.5051	20.2983	0.98569	0.0:0.0:1.0:0.0	.	825;936;936	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	G	936	ENSP00000356475:R936G;ENSP00000356473:R936G;ENSP00000412797:R936G;ENSP00000275233:R936G	ENSP00000275233:R936G	R	-	1	0	SHPRH	146297920	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	CGT	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.463	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	protein_coding	OTTHUMT00000042571.2	G	NM_173082	-		146256227	-1	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	SNP	1.000	C	C	146256227	G	C	146256227	3	2	206	1	0	0	0	0	1	0	0	0	14299	1116	39	4	2361	4	SHPRH	6	146256227	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	99004077	146256227	24858840	17	16987											
SDK1	221935	genome.wustl.edu	37	chr7	4169647	4169647	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcaagttcgtgctctaCgagctccaggtgctggcgtt	13	12	1	0	rs371541591		TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr7:4169647C>G	ENST00000404826.2	+	27	4186	c.4047C>G	c.(4045-4047)taC>taG	p.Y1349*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Y1349*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1349	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCGTGCTCTACGAGCTCCAGG	0.667																																																	0								ENSG00000146555						53	50	51					7																	4169647		2203	4300	6503	SDK1	SO:0001587	stop_gained	0			-	HGNC	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.4047C>G	7.37:g.4169647C>G	ENSP00000385899:p.Tyr1349*	Somatic	0	78	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	40	45.21	Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y1349*	ENST00000404826.2	37	c.4047	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	46	12.339733	0.99658	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.67	-1.19	0.09585	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.511	0.56005	0.0:0.3676:0.0:0.6324	.	.	.	.	X	1349	.	ENSP00000374182:Y1349X	Y	+	3	2	SDK1	4136173	0.069000	0.21087	0.996000	0.52242	0.983000	0.72400	-0.759000	0.04761	-0.096000	0.12329	0.655000	0.94253	TAC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.667	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	C	NM_152744	-		4169647	1	no_errors	ENST00000404826	ensembl	human	known	74_37	nonsense	SNP	0.933	G	G	4169647	C	G	4169647	4	3	206	1	0	0	0	0	0	1	0	0	13976	547	19	4	4153	4	SDK1	7	4169647	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09		4169647	154969016	18	16988											
GIGYF1	64599	genome.wustl.edu	37	chr7	100281500	100281500	+	Frame_Shift_Del	DEL	A	A	-													ggcccgaatctggcaccgacAaggaccggctcatcgtcggg							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr7:100281500delA	ENST00000275732.5	-	16	3119	c.1910delT	c.(1909-1911)ttgfs	p.L637fs	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	637					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGCACCGACAAGGACCGGCT	0.612																																																	0								ENSG00000146830						25	30	28					7																	100281500		2177	4252	6429	GIGYF1	SO:0001589	frameshift_variant	0				HGNC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1910delT	7.37:g.100281500delA	ENSP00000275732:p.Leu637fs	Somatic	0	55	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q6Y7W7|Q8WZ38	Frame_Shift_Del	DEL							pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.L637fs	ENST00000275732.5	37	c.1910	CCDS34708.1	7																																																																																			-	NULL		0.612	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	A	NM_022574			100281500	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	100281500	A	-	100281500	7	5	206	1	0	1	0	1	0	0	0	0	6379	131	5	0	1233	0	GIGYF1	7	100281500	Frame_Shift_Del	DEL	A	TCGA-QQ-A8VH-01A-11D-A37C-09	96111853	100281500	58857163	19	16989											
GCC1	79571	genome.wustl.edu	37	chr7	127225067	127225067	+	Frame_Shift_Del	DEL	T	T	-													cgtgggataccgacagcaccTtgatgctggcctctaatgcc							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr7:127225067delT	ENST00000321407.2	-	1	594	c.170delA	c.(169-171)aagfs	p.K57fs	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	57					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CGACAGCACCTTGATGCTGGC	0.572																																																	0								ENSG00000179562						107	102	104					7																	127225067		2203	4300	6503	GCC1	SO:0001589	frameshift_variant	0				HGNC	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.170delA	7.37:g.127225067delT	ENSP00000318821:p.Lys57fs	Somatic	0	65	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	Q9H6N7	Frame_Shift_Del	DEL							pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.K57fs	ENST00000321407.2	37	c.170	CCDS5796.1	7																																																																																			-	NULL		0.572	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	protein_coding	OTTHUMT00000059911.3	T	NM_024523			127225067	-1	no_errors	ENST00000321407	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	127225067	T	-	127225067	7	5	206	1	0	1	0	1	0	0	0	0	6287	1609	56	0	2165	0	GCC1	7	127225067	Frame_Shift_Del	DEL	T	TCGA-QQ-A8VH-01A-11D-A37C-09	26943567	127225067	31913596	20	16990											
LETM2	137994	genome.wustl.edu	37	chr8	38261910	38261910	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcccctcccgttctccaGtggcaggacctccacctgaa	8	17	1	1	rs574669200	byFrequency	TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr8:38261910G>T	ENST00000379957.4	+	8	1231		c.e8-1		LETM2_ENST00000297720.5_Splice_Site|LETM2_ENST00000523983.2_Splice_Site|LETM2_ENST00000524874.1_Splice_Site|LETM2_ENST00000528827.1_Splice_Site|LETM2_ENST00000527710.1_Splice_Site|RP11-350N15.3_ENST00000533301.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2							integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCGTTCTCCAGTGGCAGGACC	0.582																																																	0								ENSG00000165046						147	110	123					8																	38261910		2203	4300	6503	LETM2	SO:0001630	splice_region_variant	0			-	HGNC	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1105-1G>T	8.37:g.38261910G>T		Somatic	0	105	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6NMG3|Q8NCR2|Q96LL1	Splice_Site	SNP							-	e7-1	ENST00000379957.4	37	c.1105-1		8	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118144	0.77323	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0831	0.97789	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETM2	38381067	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.291000	0.96070	2.755000	0.94549	0.644000	0.83932	.	-	-		0.582	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	protein_coding	OTTHUMT00000381816.1	G	NM_144652	-	Intron	38261910	1	no_errors	ENST00000379957	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	38261910	G	T	38261910	5	4	206	1	0	0	0	0	0	0	1	0	8737	1043	36	3	837	3	LETM2	8	38261910	Splice_Site	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		38261910	108102112	21	16991											
AGPAT6	137964	genome.wustl.edu	37	chr8	41467400	41467400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaaccaattataacttccaGtacatcagccttcggctcac	5	13	2	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr8:41467400G>C	ENST00000396987.3	+	4	1389	c.462G>C	c.(460-462)caG>caC	p.Q154H	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	154					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ATAACTTCCAGTACATCAGCC	0.537																																																	0								ENSG00000158669						98	97	97					8																	41467400		2203	4300	6503	AGPAT6	SO:0001583	missense	0			-	HGNC	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.462G>C	8.37:g.41467400G>C	ENSP00000380184:p.Gln154His	Somatic	0	47	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	7	77.42	Q86V89	Missense_Mutation	SNP							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.Q154H	ENST00000396987.3	37	c.462	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263084	0.23051	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.43688	0.94	4.69	0.839	0.18907	.	0.200086	0.53938	D	0.000048	T	0.16811	0.0404	N	0.08118	0	0.48185	D	0.999601	B	0.02656	0.0	B	0.04013	0.001	T	0.11060	-1.0603	10	0.08837	T	0.75	.	7.2751	0.26279	0.2911:0.1162:0.5927:0.0	.	154	Q86UL3	GPAT4_HUMAN	H	154;108	ENSP00000380184:Q154H	ENSP00000380184:Q154H	Q	+	3	2	AGPAT6	41586557	0.846000	0.29590	1.000000	0.80357	0.953000	0.61014	-0.127000	0.10547	0.281000	0.22233	-0.350000	0.07774	CAG	-	NULL		0.537	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	protein_coding	OTTHUMT00000377158.1	G	NM_178819	-		41467400	1	no_errors	ENST00000396987	ensembl	human	known	74_37	missense	SNP	0.983	C	C	41467400	G	C	41467400	3	2	206	1	0	0	0	0	1	0	0	0	391	1020	36	4	472	4	AGPAT6	8	41467400	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	3205490	41467400	104896622	22	16992											
MAPK15	225689	genome.wustl.edu	37	chr8	144801595	144801595	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacccctgttccccggcacgTccaccctccaccagctggag	9	20	0	0	rs139010308		TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr8:144801595T>A	ENST00000338033.4	+	7	783	c.664T>A	c.(664-666)Tcc>Acc	p.S222T	MAPK15_ENST00000395107.4_Missense_Mutation_p.S239T|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.S222T	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCCGGCACGTCCACCCTCCA	0.662																																																	0								ENSG00000181085	T	THR/SER	2,4404	4.2+/-10.8	0,2,2201	43	43	43		664	4.1	0.3	8	dbSNP_134	43	0,8600		0,0,4300	no	missense	MAPK15	NM_139021.2	58	0,2,6501	AA,AT,TT		0.0,0.0454,0.0154	possibly-damaging	222/545	144801595	2,13004	2203	4300	6503	MAPK15	SO:0001583	missense	0			-	HGNC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.664T>A	8.37:g.144801595T>A	ENSP00000337691:p.Ser222Thr	Somatic	0	166	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	14	87.29	Q2TCF9|Q8N362	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S222T	ENST00000338033.4	37	c.664	CCDS6409.2	8	.	.	.	.	.	.	.	.	.	.	t	17.67	3.446212	0.63178	4.54E-4	0.0	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.47528	0.84;0.84;0.84	4.14	4.14	0.48551	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	0.55257	0.1909	L	0.31120	0.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59112	-0.7515	10	0.66056	D	0.02	-19.5563	12.4546	0.55697	0.0:0.0:0.0:1.0	.	222	Q8TD08	MK15_HUMAN	T	222;239;222	ENSP00000337691:S222T;ENSP00000378539:S239T;ENSP00000378540:S222T	ENSP00000337691:S222T	S	+	1	0	MAPK15	144873583	1.000000	0.71417	0.252000	0.24328	0.353000	0.29299	5.762000	0.68809	1.711000	0.51337	0.402000	0.26972	TCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	protein_coding	OTTHUMT00000300348.1	T	NM_139021	rs139010308		144801595	1	no_errors	ENST00000338033	ensembl	human	known	74_37	missense	SNP	0.997	A	A	144801595	T	A	144801595	3	1	206	1	0	0	0	0	1	0	0	0	9279	1667	58	5	690	5	MAPK15	8	144801595	Missense_Mutation	SNP	T	TCGA-QQ-A8VH-01A-11D-A37C-09	103334195	144801595	1562427	23	16993											
SLC28A3	64078	genome.wustl.edu	37	chr9	86907608	86907608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacaaatatattgccagaaGcaactacagattcaatagga	6	8	1	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr9:86907608G>T	ENST00000376238.4	-	10	1047	c.998C>A	c.(997-999)gCt>gAt	p.A333D	SLC28A3_ENST00000537648.1_Missense_Mutation_p.A264D|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	333					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ATTGCCAGAAGCAACTACAGA	0.348																																					Ovarian(106;425 1539 34835 42413 43572)												0								ENSG00000197506						93	84	87					9																	86907608		2203	4300	6503	SLC28A3	SO:0001583	missense	0			-	HGNC	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.998C>A	9.37:g.86907608G>T	ENSP00000365413:p.Ala333Asp	Somatic	0	60	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP							pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.A333D	ENST00000376238.4	37	c.998	CCDS6670.1	9	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725722	0.89298	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.32988	1.43;1.43	6.08	6.08	0.98989	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	H	0.96748	3.875	0.58432	D	0.999998	D;D	0.76494	0.997;0.999	D;D	0.79784	0.987;0.993	T	0.80656	-0.1285	10	0.87932	D	0	-20.5706	20.6721	0.99693	0.0:0.0:1.0:0.0	.	264;333	B4E2S8;Q9HAS3	.;S28A3_HUMAN	D	333;264	ENSP00000365413:A333D;ENSP00000446438:A264D	ENSP00000365413:A333D	A	-	2	0	SLC28A3	86097428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.894000	0.99253	0.591000	0.81541	GCT	-	pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac		0.348	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	protein_coding	OTTHUMT00000052874.1	G	NM_022127	-		86907608	-1	no_errors	ENST00000376238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	86907608	G	T	86907608	3	4	206	1	0	0	0	0	1	0	0	0	14541	971	34	3	1113	3	SLC28A3	9	86907608	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		86907608	54305823	24	16994											
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130653162	130653162	+	Frame_Shift_Del	DEL	T	T	-													tggaatgggccacgacgcggTaggtggtcttgttgcccaca							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr9:130653162delT	ENST00000373146.1	-	5	637	c.458delA	c.(457-459)tacfs	p.Y153fs	ST6GALNAC6_ENST00000291839.5_Frame_Shift_Del_p.Y153fs|ST6GALNAC6_ENST00000373144.3_Frame_Shift_Del_p.Y119fs|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373141.1_Frame_Shift_Del_p.Y119fs|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Frame_Shift_Del_p.Y153fs			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	153					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACGACGCGGTAGGTGGTCTT	0.607																																																	0								ENSG00000160408						95	86	89					9																	130653162		2203	4300	6503	ST6GALNAC6	SO:0001589	frameshift_variant	0				HGNC	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.458delA	9.37:g.130653162delT	ENSP00000362239:p.Tyr153fs	Somatic	0	48	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Frame_Shift_Del	DEL							pfam_Glyco_trans_29	p.Y153fs	ENST00000373146.1	37	c.458	CCDS6882.1	9																																																																																			-	pfam_Glyco_trans_29		0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	protein_coding	OTTHUMT00000054278.1	T	NM_013443			130653162	-1	no_errors	ENST00000291839	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	130653162	T	-	130653162	7	5	206	1	0	1	0	1	0	0	0	0	15235	1638	57	0	555	0	ST6GALNAC6	9	130653162	Frame_Shift_Del	DEL	T	TCGA-QQ-A8VH-01A-11D-A37C-09	43745554	130653162	10560269	25	16995											
C9orf96	169436	genome.wustl.edu	37	chr9	136270476	136270476	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgagtgacagcagcgccttCagcaaaccaggcctccctcc	10	16	1	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr9:136270476C>G	ENST00000371957.3	+	18	2081	c.1974C>G	c.(1972-1974)ttC>ttG	p.F658L	C9orf96_ENST00000371955.1_Missense_Mutation_p.F191L	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		658							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCAGCGCCTTCAGCAAACCAG	0.592																																																	0								ENSG00000198870						43	39	40					9																	136270476		2203	4300	6503	C9orf96	SO:0001583	missense	0			-	HGNC																												ENST00000371957.3:c.1974C>G	9.37:g.136270476C>G	ENSP00000361025:p.Phe658Leu	Somatic	0	13	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	45.45	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F658L	ENST00000371957.3	37	c.1974	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.715893	0.00706	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.61392	0.11;1.24	2.09	-1.06	0.10002	.	5.213390	0.00508	N	0.000173	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14200	-1.0481	10	0.08599	T	0.76	0.8648	2.8233	0.05478	0.0:0.4243:0.2468:0.3289	.	658	Q8NE28	SGK71_HUMAN	L	658;191	ENSP00000361025:F658L;ENSP00000361023:F191L	ENSP00000361023:F191L	F	+	3	2	C9orf96	135260297	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.068000	0.11561	-0.278000	0.09180	-0.254000	0.11334	TTC	-	NULL		0.592	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	protein_coding	OTTHUMT00000054855.1	C		-		136270476	1	no_errors	ENST00000371957	ensembl	human	known	74_37	missense	SNP	0.000	G	G	136270476	C	G	136270476	3	3	206	1	0	0	0	0	1	0	0	0	2510	825	29	4	2044	4	C9orf96	9	136270476	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	5617314	136270476	4942955	26	16996											
ACBD5	91452	genome.wustl.edu	37	chr10	27499800	27499800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgcctcgcttctcccggtGtggtgctccgctgttattcc	10	16	1	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr10:27499800G>T	ENST00000375888.1	-	9	1238	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N	ACBD5_ENST00000375905.4_Missense_Mutation_p.H348N|ACBD5_ENST00000396271.3_Missense_Mutation_p.H383N|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.H206N|ACBD5_ENST00000375901.1_Missense_Mutation_p.H274N			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	392					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TTCTCCCGGTGTGGTGCTCCG	0.458																																																	0								ENSG00000107897						196	184	188					10																	27499800		2203	4300	6503	ACBD5	SO:0001583	missense	0			-	HGNC	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1174C>A	10.37:g.27499800G>T	ENSP00000365049:p.His392Asn	Somatic	0	93	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	30	50.82	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP							pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.H392N	ENST00000375888.1	37	c.1174		10	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810833	0.32053	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	D;T;T;T;T	0.83250	-1.7;2.2;1.46;1.47;2.46	5.49	5.49	0.81192	.	0.660669	0.17226	N	0.182121	D	0.83663	0.5303	M	0.68317	2.08	0.36909	D	0.890818	P;P;B;B	0.49862	0.604;0.929;0.282;0.411	B;B;B;B	0.42827	0.302;0.399;0.159;0.159	D	0.87646	0.2525	10	0.54805	T	0.06	0.1782	17.5683	0.87927	0.0:0.0:1.0:0.0	.	383;206;381;392	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	N	389;383;348;274;206;392	ENSP00000379568:H383N;ENSP00000365070:H348N;ENSP00000365066:H274N;ENSP00000365062:H206N;ENSP00000365049:H392N	ENSP00000365049:H392N	H	-	1	0	ACBD5	27539806	1.000000	0.71417	0.854000	0.33618	0.289000	0.27227	3.326000	0.52037	2.569000	0.86673	0.555000	0.69702	CAC	-	pirsf_M-assoc_diazepam-bd-inh		0.458	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	protein_coding	OTTHUMT00000047314.1	G	NM_145698	-		27499800	-1	no_errors	ENST00000375888	ensembl	human	known	74_37	missense	SNP	0.958	T	T	27499800	G	T	27499800	3	4	206	1	0	0	0	0	1	0	0	0	125	1377	48	3	450	3	ACBD5	10	27499800	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		27499800	108034947	27	16997											
OPN4	94233	genome.wustl.edu	37	chr10	88418324	88418324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgccctggaccgctacCtggtaatcacacgcccgctg	9	18	1	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr10:88418324C>T	ENST00000241891.5	+	4	675	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	OPN4_ENST00000372071.2_Silent_p.L181L	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	170					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGACCGCTACCTGGTAATCAC	0.612																																																	0								ENSG00000122375						92	82	85					10																	88418324		2203	4300	6503	OPN4	SO:0001819	synonymous_variant	0			-	HGNC	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.508C>T	10.37:g.88418324C>T		Somatic	0	76	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	12	67.57	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.L181	ENST00000241891.5	37	c.541	CCDS7376.1	10																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.612	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	protein_coding	OTTHUMT00000049158.2	C	NM_033282	-		88418324	1	no_errors	ENST00000372071	ensembl	human	known	74_37	silent	SNP	1.000	T	T	88418324	C	T	88418324	2	4	206	1	0	0	0	0	0	0	0	1	10884	680	24	2		2	OPN4	10	88418324	Silent	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	60918524	88418324	47116423	28	16998											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651159	1651169	+	Frame_Shift_Del	DEL	GCTGTGGCTCT	GCTGTGGCTCT	-													ctgtggctccggctgtggagGctgtggctctggctgtgggg					rs71454095|rs71454094	byFrequency	TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	GCTGTGGCTCT	GCTGTGGCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr11:1651159_1651169delGCTGTGGCTCT	ENST00000399676.2	+	1	127_137	c.89_99delGCTGTGGCTCT	c.(88-99)ggctgtggctctfs	p.GCGS30fs		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggctgtggaggctgtggctctggctgtgggg	0.711																																																	0								ENSG00000185940			98,3952		6,86,1933						0.1	0			32	211,7787		8,195,3796	no	frameshift	KRTAP5-5	NM_001001480.2		14,281,5729	A1A1,A1R,RR		2.6382,2.4198,2.5647				309,11739				KRTAP5-5	SO:0001589	frameshift_variant	0				HGNC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.89_99delGCTGTGGCTCT	11.37:g.1651159_1651169delGCTGTGGCTCT	ENSP00000382584:p.Gly30fs	Somatic					0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MWN2	Frame_Shift_Del	DEL							NULL	p.C31fs	ENST00000399676.2	37	c.89_99	CCDS41592.1	11																																																																																			-	NULL		0.711	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	GCTGTGGCTCT				1651169	1	no_errors	ENST00000399676	ensembl	human	known	74_37	frame_shift_del	DEL	0.384:0.317:0.302:0.301:0.281:0.273:0.283:0.273:0.229:0.033:0.002	-	-	1651169	GCTGTGGCTCT	-	1651159	7	5	206	1	0	1	0	1	0	0	0	0	8566	1203	42	0	91	0	KRTAP5-5	11	1651159	Frame_Shift_Del	DEL	GCTGTGGCTCT	TCGA-QQ-A8VH-01A-11D-A37C-09		1651159	133355357	29	16999											
ZDHHC13	54503	genome.wustl.edu	37	chr11	19184856	19184856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttggctttaacatttagCaggagcccctttctatttca	6	10	2	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr11:19184856C>A	ENST00000446113.2	+	11	1236	c.1115C>A	c.(1114-1116)gCa>gAa	p.A372E	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.A242E	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	372	Phe-rich.				metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TAACATTTAGCAGGAGCCCCT	0.353																																																	0								ENSG00000177054						107	99	102					11																	19184856		1829	4068	5897	ZDHHC13	SO:0001583	missense	0			-	HGNC	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1115C>A	11.37:g.19184856C>A	ENSP00000400113:p.Ala372Glu	Somatic	0	95	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	98	26.87	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase	p.A372E	ENST00000446113.2	37	c.1115	CCDS44550.1	11	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104768	0.20632	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.35789	1.29;2.01	5.32	3.41	0.39046	.	.	.	.	.	T	0.29749	0.0743	L	0.36672	1.1	0.23795	N	0.996828	B	0.17038	0.02	B	0.09377	0.004	T	0.14615	-1.0466	9	0.28530	T	0.3	.	13.9811	0.64306	0.0:0.7101:0.2899:0.0	.	372	Q8IUH4	ZDH13_HUMAN	E	372;242	ENSP00000400113:A372E;ENSP00000382288:A242E	ENSP00000382288:A242E	A	+	2	0	ZDHHC13	19141432	0.782000	0.28689	0.948000	0.38648	0.654000	0.38779	1.084000	0.30828	0.705000	0.31890	0.655000	0.94253	GCA	-	NULL		0.353	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZDHHC13	protein_coding	OTTHUMT00000387821.1	C	NM_019028	-		19184856	1	no_errors	ENST00000446113	ensembl	human	known	74_37	missense	SNP	0.999	A	A	19184856	C	A	19184856	3	1	206	1	0	0	0	0	1	0	0	0	17610	710	25	3	1157	3	ZDHHC13	11	19184856	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	17533697	19184856	115821660	30	17000											
AGBL2	79841	genome.wustl.edu	37	chr11	47711627	47711627	+	Splice_Site	DEL	C	C	-													tcaacagataaaaagtctcaCcttttgatcatgttcctggt							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr11:47711627delC	ENST00000525123.1	-	10	1917		c.e10+1		AGBL2_ENST00000528244.1_Splice_Site|AGBL2_ENST00000357610.3_Splice_Site|AGBL2_ENST00000529712.1_Splice_Site|AGBL2_ENST00000298861.4_Splice_Site	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2							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						AAAAGTCTCACCTTTTGATCA	0.428																																																	0								ENSG00000165923						54	47	49					11																	47711627		2201	4298	6499	AGBL2	SO:0001630	splice_region_variant	0				HGNC		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.1631+1G>-	11.37:g.47711627delC		Somatic	0	32	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	45	25.00	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Splice_Site	DEL							-	e9+1	ENST00000525123.1	37	c.1631+1	CCDS7944.1	11																																																																																			-	-		0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	protein_coding	OTTHUMT00000383726.2	C	NM_024783		Intron	47711627	-1	no_errors	ENST00000357610	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	47711627	C	-	47711627	8	5	206	1	0	1	0	1	0	0	1	0	376	521	18	0	1116	0	AGBL2	11	47711627	Splice_Site	DEL	C	TCGA-QQ-A8VH-01A-11D-A37C-09	28526771	47711627	87294889	31	17001											
RSF1	51773	genome.wustl.edu	37	chr11	77378084	77378084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattggaggctaggcttgCactggctgtgctgttgtcct	13	11	0	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr11:77378084C>T	ENST00000308488.6	-	16	4506	c.4204G>A	c.(4204-4206)Gca>Aca	p.A1402T	RSF1_ENST00000360355.2_Missense_Mutation_p.A1371T|RSF1_ENST00000480887.1_Missense_Mutation_p.A1150T			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1402					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCTAGGCTTGCACTGGCTGTG	0.522																																																	0								ENSG00000048649						133	109	117					11																	77378084		2200	4292	6492	RSF1	SO:0001583	missense	0			-	HGNC	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.4204G>A	11.37:g.77378084C>T	ENSP00000311513:p.Ala1402Thr	Somatic	0	55	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	38	38.71	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A1402T	ENST00000308488.6	37	c.4204	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011158	0.35511	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	D;D;D	0.89617	-2.52;-2.54;-2.51	4.99	4.99	0.66335	.	0.141173	0.32753	N	0.005690	D	0.82926	0.5143	L	0.29908	0.895	0.38130	D	0.938118	B	0.29531	0.247	B	0.31016	0.123	D	0.83549	0.0100	10	0.66056	D	0.02	-7.3213	12.1931	0.54282	0.0:0.9218:0.0:0.0782	.	1402	Q96T23	RSF1_HUMAN	T	1402;1150;1371	ENSP00000311513:A1402T;ENSP00000434509:A1150T;ENSP00000353511:A1371T	ENSP00000311513:A1402T	A	-	1	0	RSF1	77055732	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.823000	0.55715	2.757000	0.94681	0.462000	0.41574	GCA	-	NULL		0.522	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	protein_coding	OTTHUMT00000318075.2	C	NM_016578	-		77378084	-1	no_errors	ENST00000308488	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77378084	C	T	77378084	3	4	206	1	0	0	0	0	1	0	0	0	13707	710	25	2	125	2	RSF1	11	77378084	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	29666457	77378084	57628432	32	17002											
TECTA	7007	genome.wustl.edu	37	chr11	121037373	121037373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcaagctcttccagctcGgttttgagagggagggcgtg	16	8	1	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr11:121037373G>A	ENST00000392793.1	+	18	5741	c.5470G>A	c.(5470-5472)Ggt>Agt	p.G1824S	TECTA_ENST00000264037.2_Missense_Mutation_p.G1824S			O75443	TECTA_HUMAN	tectorin alpha	1824	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		G -> D (in DFNA12; prelingual and stable deafness). {ECO:0000269|PubMed:9590290}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G1824C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTCCAGCTCGGTTTTGAGAG	0.488																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000109927						135	116	122					11																	121037373		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5470G>A	11.37:g.121037373G>A	ENSP00000376543:p.Gly1824Ser	Somatic	0	72	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51		Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.G1824S	ENST00000392793.1	37	c.5470	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.672229	0.96754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.83250	-1.7;-1.7	6.05	6.05	0.98169	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90947	0.4802	10	0.62326	D	0.03	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	1824	O75443	TECTA_HUMAN	S	1824	ENSP00000376543:G1824S;ENSP00000264037:G1824S	ENSP00000264037:G1824S	G	+	1	0	TECTA	120542583	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.429000	0.97481	2.866000	0.98385	0.650000	0.86243	GGT	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	G	NM_005422	-		121037373	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	1.000	A	A	121037373	G	A	121037373	3	1	206	1	0	0	0	0	1	0	0	0	15754	1116	39	1	5536	1	TECTA	11	121037373	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	43659289	121037373	13969143	33	17003											
A2ML1	144568	genome.wustl.edu	37	chr12	8995729	8995729	+	Splice_Site	DEL	G	G	-													ctctctctcttttattctcaGggaaagtttcaaatggaaga							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr12:8995729delG	ENST00000299698.7	+	12	1428		c.e12-1		A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.?(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTATTCTCAGGGAAAGTTTC	0.433																																																	1	Unknown(1)	lung(1)						ENSG00000166535						61	61	61					12																	8995729		1878	4112	5990	A2ML1	SO:0001630	splice_region_variant	0				HGNC	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1249-1G>-	12.37:g.8995729delG		Somatic	0	44	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29		Splice_Site	DEL							-	e12-1	ENST00000299698.7	37	c.1249-1	CCDS8596.2	12																																																																																			-	-		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	protein_coding	OTTHUMT00000250304.3	G	NM_144670		Intron	8995729	1	no_errors	ENST00000299698	ensembl	human	known	74_37	splice_site_del	DEL	0.965	-	-	8995729	G	-	8995729	8	5	206	1	0	1	0	1	0	0	1	0	5	1014	35	0	1294	0	A2ML1	12	8995729	Splice_Site	DEL	G	TCGA-QQ-A8VH-01A-11D-A37C-09		8995729	124856166	34	17004											
BCAT1	586	genome.wustl.edu	37	chr12	24995082	24995082	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagtgatctgatggtcctCtccatagagccacaggacct	9	12	3	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr12:24995082C>A	ENST00000261192.7	-	7	1277	c.751G>T	c.(751-753)Gag>Tag	p.E251*	BCAT1_ENST00000539780.1_Nonsense_Mutation_p.E214*|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.E250*|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Nonsense_Mutation_p.E190*|BCAT1_ENST00000539282.1_Nonsense_Mutation_p.E263*	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	251				E -> R (in Ref. 1; AAB08528). {ECO:0000305}.	branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TGATGGTCCTCTCCATAGAGC	0.413																																																	0								ENSG00000060982						94	90	91					12																	24995082		1916	4150	6066	BCAT1	SO:0001587	stop_gained	0			-	HGNC		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.751G>T	12.37:g.24995082C>A	ENSP00000261192:p.Glu251*	Somatic	0	41	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	11.54	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Nonsense_Mutation	SNP							pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.E251*	ENST00000261192.7	37	c.751	CCDS44845.1	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892674	0.91889	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	.	.	.	5.35	1.89	0.25635	.	0.641603	0.15986	N	0.235046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-15.788	8.6948	0.34289	0.1175:0.7113:0.0:0.1712	.	.	.	.	X	251;250;190;263;214	.	ENSP00000261192:E251X	E	-	1	0	BCAT1	24886349	1.000000	0.71417	0.007000	0.13788	0.128000	0.20619	1.904000	0.39868	-0.144000	0.11314	-1.119000	0.02030	GAG	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII		0.413	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	protein_coding	OTTHUMT00000402080.1	C	NM_005504	-		24995082	-1	no_errors	ENST00000261192	ensembl	human	known	74_37	nonsense	SNP	0.957	A	A	24995082	C	A	24995082	4	1	206	1	0	0	0	0	0	1	0	0	1354	922	32	3	429	3	BCAT1	12	24995082	Nonsense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	15999353	24995082	108856813	35	17005											
RASSF9	9182	genome.wustl.edu	37	chr12	86198968	86198968	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtattcggtaatattTcagtcgttcttccagctgtt	8	7	2	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr12:86198968T>A	ENST00000361228.3	-	2	1188	c.820A>T	c.(820-822)Aaa>Taa	p.K274*		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	274					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)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGGTAATATTTCAGTCGTTCT	0.408																																																	0								ENSG00000198774						112	107	109					12																	86198968		1876	4106	5982	RASSF9	SO:0001587	stop_gained	0			-	HGNC		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.820A>T	12.37:g.86198968T>A	ENSP00000354884:p.Lys274*	Somatic	0	42	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	B3KMQ4|Q8N5U8	Nonsense_Mutation	SNP							smart_Ras-assoc,pfscan_Ras-assoc	p.K274*	ENST00000361228.3	37	c.820	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293561	0.80914	.	.	ENSG00000198774	ENST00000361228	.	.	.	4.9	-0.962	0.10333	.	0.874620	0.10040	U	0.723517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-4.9129	6.007	0.19551	0.0:0.1503:0.2603:0.5894	.	.	.	.	X	274	.	ENSP00000354884:K274X	K	-	1	0	RASSF9	84723099	0.001000	0.12720	0.025000	0.17156	0.441000	0.31987	0.500000	0.22562	-0.008000	0.14320	0.528000	0.53228	AAA	-	NULL		0.408	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	protein_coding	OTTHUMT00000406109.1	T		-		86198968	-1	no_errors	ENST00000361228	ensembl	human	known	74_37	nonsense	SNP	0.017	A	A	86198968	T	A	86198968	4	1	206	1	0	0	0	0	0	1	0	0	13101	1792	62	5	491	5	RASSF9	12	86198968	Nonsense_Mutation	SNP	T	TCGA-QQ-A8VH-01A-11D-A37C-09	61203886	86198968	47652927	36	17006											
RNASE8	122665	genome.wustl.edu	37	chr14	21526082	21526084	+	In_Frame_Del	DEL	CTG	CTG	-													ccagagcaggatgctgccccCtgctgctgctgcttctgggg							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr14:21526082_21526084delCTG	ENST00000308227.2	+	1	102_104	c.31_33delCTG	c.(31-33)ctgdel	p.L16del	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	16					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		ATGCTGCCCCCTGCTGCTGCTGC	0.557																																																	0								ENSG00000173431																																			RNASE8	SO:0001651	inframe_deletion	0				HGNC	AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"Ribonucleases, RNase A"	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.31_33delCTG	14.37:g.21526091_21526093delCTG	ENSP00000311398:p.Leu16del	Somatic	0	49	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B2RPP6|B2RPP7	In_Frame_Del	DEL							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.L14in_frame_del	ENST00000308227.2	37	c.31_33	CCDS9567.1	14																																																																																			-	NULL		0.557	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE8	protein_coding	OTTHUMT00000073925.3	CTG	NM_138331			21526084	1	no_errors	ENST00000308227	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.002:0.001	-	-	21526084	CTG	-	21526082	7	5	206	1	0	1	0	1	0	0	0	0	13417	680	24	0	33	0	RNASE8	14	21526082	In_Frame_Del	DEL	CTG	TCGA-QQ-A8VH-01A-11D-A37C-09		21526082	85823458	37	17007											
DCAF11	80344	genome.wustl.edu	37	chr14	24590047	24590047	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccacctttggattcatagGgtgatgcccggtatctgatc	10	10	2	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr14:24590047G>T	ENST00000446197.3	+	12	1820	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	DCAF11_ENST00000396941.4_Splice_Site_p.G339C|DCAF11_ENST00000396936.1_Splice_Site_p.G265C|DCAF11_ENST00000559115.1_Splice_Site_p.G365C|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	365					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGATTCATAGGGTGATGCCCG	0.512																																																	0								ENSG00000100897						117	118	117					14																	24590047		2203	4300	6503	DCAF11	SO:0001630	splice_region_variant	0			-	HGNC	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1093-1G>T	14.37:g.24590047G>T		Somatic	0	33	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	24	52.00	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G365C	ENST00000446197.3	37	c.1093	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	24.0	4.477993	0.84747	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.60548	0.18;0.18	6.07	6.07	0.98685	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	0.69415	0.3108	L	0.41124	1.26	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0	D;D;D;D;D	0.85130	0.997;0.988;0.986;0.959;0.993	T	0.64419	-0.6412	9	.	.	.	3.3686	18.1378	0.89627	0.0:0.0:1.0:0.0	.	288;339;265;365;365	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	C	365;339;265;339	ENSP00000380142:G265C;ENSP00000380146:G339C	.	G	+	1	0	DCAF11	23659887	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.630000	0.90987	2.884000	0.98904	0.655000	0.94253	GGT	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.512	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	protein_coding	OTTHUMT00000071907.4	G		-	Missense_Mutation	24590047	1	no_errors	ENST00000446197	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24590047	G	T	24590047	5	4	206	1	0	0	0	0	0	0	1	0	4264	1246	43	3	1135	3	DCAF11	14	24590047	Splice_Site	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	3063965	24590047	82759493	38	17008											
DICER1	23405	genome.wustl.edu	37	chr14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtagtccaaaatcgcatCtcccaggaattctaagcgct	9	11	2	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> E (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.|D -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	1	Substitution - Missense(1)	endometrium(1)						ENSG00000100697						69	73	72					14																	95560464		2203	4300	6503	DICER1	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	-	HGNC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5125G>A	14.37:g.95560464C>T	ENSP00000437256:p.Asp1709Asn	Somatic	0	49	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	7	85.11	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP							pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.D1709N	ENST00000526495.1	37	c.5125	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.678665	0.96764	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.43	5.43	0.79202	Ribonuclease III (6);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.995	D	0.99785	1.1029	10	0.87932	D	0	-27.7505	19.2735	0.94021	0.0:1.0:0.0:0.0	.	607;1709	B3KRG4;Q9UPY3	.;DICER_HUMAN	N	1709;1709;1709;1709;607;1709	ENSP00000343745:D1709N;ENSP00000437256:D1709N;ENSP00000376783:D1709N;ENSP00000435681:D1709N;ENSP00000451041:D607N;ENSP00000444719:D1709N	ENSP00000343745:D1709N	D	-	1	0	DICER1	94630217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.421000	0.80204	2.549000	0.85964	0.655000	0.94253	GAT	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom		0.527	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	protein_coding	OTTHUMT00000387997.1	C		-		95560464	-1	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95560464	C	T	95560464	3	4	206	1	0	0	0	0	1	0	0	0	4523	913	32	2	659	2	DICER1	14	95560464	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	70970417	95560464	11789076	39	17009											
ALDH1A3	220	genome.wustl.edu	37	chr15	101438364	101438364	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgggggggaagaaccCctgcatcgtgtgtgcggacg	19	9	0	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr15:101438364C>G	ENST00000329841.5	+	8	1389	c.857C>G	c.(856-858)cCc>cGc	p.P286R	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.P179R|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	286					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)	GGGAAGAACCCCTGCATCGTG	0.587																																																	0								ENSG00000184254						69	66	67					15																	101438364		2203	4300	6503	ALDH1A3	SO:0001583	missense	0			-	HGNC	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.857C>G	15.37:g.101438364C>G	ENSP00000332256:p.Pro286Arg	Somatic	0	27	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	31	53.73	Q6NT64	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.P286R	ENST00000329841.5	37	c.857	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932822	0.73442	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.22134	1.97	5.76	5.76	0.90799	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84558	0.0648	10	0.87932	D	0	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	190;286	Q7Z3A2;P47895	.;AL1A3_HUMAN	R	286;190	ENSP00000332256:P286R	ENSP00000332256:P286R	P	+	2	0	ALDH1A3	99255887	1.000000	0.71417	0.968000	0.41197	0.228000	0.25075	7.380000	0.79704	2.719000	0.93026	0.555000	0.69702	CCC	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.587	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	protein_coding	OTTHUMT00000313620.2	C		-		101438364	1	no_errors	ENST00000329841	ensembl	human	known	74_37	missense	SNP	1.000	G	G	101438364	C	G	101438364	3	3	206	1	0	0	0	0	1	0	0	0	492	623	22	4	887	4	ALDH1A3	15	101438364	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09		101438364	1093028	40	17010											
CLEC16A	23274	genome.wustl.edu	37	chr16	11066825	11066825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggccatgctgcactacatccGagataaaactgctgttcctt	8	12	0	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr16:11066825G>T	ENST00000409790.1	+	7	865	c.635G>T	c.(634-636)cGa>cTa	p.R212L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R210L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACTACATCCGAGATAAAACT	0.408																																																	0								ENSG00000038532						100	92	94					16																	11066825		1936	4144	6080	CLEC16A	SO:0001583	missense	0			-	HGNC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.635G>T	16.37:g.11066825G>T	ENSP00000387122:p.Arg212Leu	Somatic	0	55	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP							pfam_Uncharacterised_FPL	p.R212L	ENST00000409790.1	37	c.635	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.135436	0.94517	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50001	0.76	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.35542	1.07	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.992;0.994	T	0.49133	-0.8971	10	0.23302	T	0.38	-14.3544	19.2671	0.93993	0.0:0.0:1.0:0.0	.	212;210	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	212;212;210	ENSP00000387122:R212L	ENSP00000386495:R210L	R	+	2	0	CLEC16A	10974326	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.751000	0.98889	2.788000	0.95919	0.650000	0.86243	CGA	-	NULL		0.408	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	protein_coding	OTTHUMT00000328540.2	G	NM_015226	-		11066825	1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11066825	G	T	11066825	3	4	206	1	0	0	0	0	1	0	0	0	3502	1058	37	3	657	3	CLEC16A	16	11066825	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		11066825	79287928	41	17011											
LAT	27040	genome.wustl.edu	37	chr16	28997518	28997518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacccacccctgagccagCcagacctgctccccatcccg	6	23	0	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr16:28997518C>T	ENST00000360872.5	+	4	304	c.226C>T	c.(226-228)Cca>Tca	p.P76S	LAT_ENST00000454369.2_Missense_Mutation_p.P76S|RP11-264B17.3_ENST00000569969.1_RNA|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000566177.1_Missense_Mutation_p.P76S|LAT_ENST00000354453.4_Missense_Mutation_p.P76S|LAT_ENST00000563964.1_Intron|LAT_ENST00000395456.2_Missense_Mutation_p.P76S|LAT_ENST00000564277.1_Missense_Mutation_p.P76S|LAT_ENST00000395461.3_Missense_Mutation_p.P112S			O43561	LAT_HUMAN	linker for activation of T cells	76					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CCTGAGCCAGCCAGACCTGCT	0.607																																																	0								ENSG00000213658						81	78	79					16																	28997518		2197	4300	6497	LAT	SO:0001583	missense	0			-	HGNC	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.226C>T	16.37:g.28997518C>T	ENSP00000354119:p.Pro76Ser	Somatic	0	42	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP							prints_Linker_for_activat_Tcells_prot	p.P112S	ENST00000360872.5	37	c.334	CCDS10647.1	16	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589032	0.46110	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	4.33	3.37	0.38596	.	.	.	.	.	T	0.45397	0.1340	N	0.20986	0.625	0.31238	N	0.69548	D;P;P;D;P	0.89917	1.0;0.873;0.873;1.0;0.873	D;B;B;D;B	0.71870	0.975;0.441;0.441;0.975;0.441	T	0.45175	-0.9279	8	0.87932	D	0	-3.9714	7.4242	0.27090	0.0:0.884:0.0:0.116	.	76;76;112;76;76	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	S	112;76;76;76;76	.	ENSP00000346441:P76S	P	+	1	0	LAT	28905019	0.991000	0.36638	0.999000	0.59377	0.474000	0.32979	1.010000	0.29898	2.421000	0.82119	0.462000	0.41574	CCA	-	prints_Linker_for_activat_Tcells_prot		0.607	LAT-001	KNOWN	basic|CCDS	protein_coding	LAT	protein_coding	OTTHUMT00000254688.2	C		-		28997518	1	no_errors	ENST00000395461	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28997518	C	T	28997518	3	4	206	1	0	0	0	0	1	0	0	0	8646	739	26	2	352	2	LAT	16	28997518	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	17930693	28997518	61357235	42	17012											
TP53	7157	genome.wustl.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	15	10	0	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr17:7578443A>T	ENST00000269305.4	-	5	676	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N|TP53_ENST00000455263.2_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000420246.2_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)						ENSG00000141510						53	54	53					17																	7578443		2203	4300	6503	TP53	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;	-	HGNC	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.487T>A	17.37:g.7578443A>T	ENSP00000269305:p.Tyr163Asn	Somatic	0	32	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	5	81.48	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y163N	ENST00000269305.4	37	c.487	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958850	0.53400	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.58432	D	0.999997	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	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163N;ENSP00000352610:Y163N;ENSP00000269305:Y163N;ENSP00000398846:Y163N;ENSP00000391127:Y163N;ENSP00000391478:Y163N;ENSP00000425104:Y31N;ENSP00000423862:Y70N;ENSP00000424104:Y163N	ENSP00000269305:Y163N	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578443	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7578443	A	T	7578443	3	4	206	1	0	0	0	0	1	0	0	0	16388	420	15	5	811	5	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-QQ-A8VH-01A-11D-A37C-09		7578443	73616767	43	17013											
NF1	4763	genome.wustl.edu	37	chr17	29553702	29553702	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaatatgatgtcaacaGgtaaatgtgaatagtggttt	10	4	2	2			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr17:29553702G>C	ENST00000358273.4	+	18	2634	c.2251G>C	c.(2251-2253)Gga>Cga	p.G751R	NF1_ENST00000356175.3_Splice_Site_p.G751R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	751					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.G751*(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)		GATGTCAACAGGTAAATGTGA	0.403			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	GRCh37	CS076636	NF1	S		ENSG00000196712						118	105	110					17																	29553702		2203	4300	6503	NF1	SO:0001630	splice_region_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		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.2251+1G>C	17.37:g.29553702G>C		Somatic	0	48	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.G751R	ENST00000358273.4	37	c.2251	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905136	0.92035	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.63913	-0.07;-0.07;0.74	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.98;0.998;0.986	T	0.78122	-0.2327	10	0.87932	D	0	.	20.0278	0.97529	0.0:0.0:1.0:0.0	.	751;751;751	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	R	751;751;417	ENSP00000351015:G751R;ENSP00000348498:G751R;ENSP00000389907:G417R	ENSP00000348498:G751R	G	+	1	0	NF1	26577828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.288000	0.96055	2.717000	0.92951	0.650000	0.86243	GGA	-	superfamily_ARM-type_fold		0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	G	NM_000267	-	Missense_Mutation	29553702	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	SNP	1.000	C	C	29553702	G	C	29553702	5	2	206	1	0	0	0	0	0	0	1	0	10358	1014	35	4	2382	4	NF1	17	29553702	Splice_Site	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	21975259	29553702	51641508	44	17014											
FKBP10	60681	genome.wustl.edu	37	chr17	39974436	39974436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtgagcacattgctgCgcccgccccactgcccccgc	11	19	0	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr17:39974436C>T	ENST00000321562.4	+	3	591	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	163					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACATTGCTGCGCCCGCCCCA	0.622																																																	0								ENSG00000141756						64	59	61					17																	39974436		2203	4300	6503	FKBP10	SO:0001583	missense	0			-	HGNC	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.487C>T	17.37:g.39974436C>T	ENSP00000317232:p.Arg163Cys	Somatic	0	49	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP							pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.R163C	ENST00000321562.4	37	c.487	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612185	0.66672	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352	T	0.55588	0.51	5.53	5.53	0.82687	.	0.255230	0.30630	N	0.009204	T	0.56978	0.2022	M	0.78049	2.395	0.80722	D	1	D	0.56287	0.975	P	0.44561	0.453	T	0.64193	-0.6465	10	0.59425	D	0.04	-10.2049	12.3863	0.55335	0.2793:0.7207:0.0:0.0	.	163	Q96AY3	FKB10_HUMAN	C	163	ENSP00000317232:R163C	ENSP00000269598:R163C	R	+	1	0	FKBP10	37227962	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	3.832000	0.55783	2.628000	0.89032	0.561000	0.74099	CGC	-	NULL		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	protein_coding	OTTHUMT00000257410.2	C	NM_021939	-		39974436	1	no_errors	ENST00000321562	ensembl	human	known	74_37	missense	SNP	0.970	T	T	39974436	C	T	39974436	3	4	206	1	0	0	0	0	1	0	0	0	5904	768	27	1	497	1	FKBP10	17	39974436	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	10420734	39974436	41220774	45	17015											
QRICH2	84074	genome.wustl.edu	37	chr17	74288739	74288739	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcaccaggttggaccAagccaggctgatatgcacca	11	12	1	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr17:74288739A>T	ENST00000262765.5	-	4	1750	c.1571T>A	c.(1570-1572)tTg>tAg	p.L524*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	524	Gln-rich.									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						AGGTTGGACCAAGCCAGGCTG	0.532																																																	0								ENSG00000129646						159	130	139					17																	74288739		2203	4300	6503	QRICH2	SO:0001587	stop_gained	0			-	HGNC	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.1571T>A	17.37:g.74288739A>T	ENSP00000262765:p.Leu524*	Somatic	0	89	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	51	46.32	A2RRE1|Q96LM3	Nonsense_Mutation	SNP							NULL	p.L524*	ENST00000262765.5	37	c.1571	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	a	37	6.314379	0.97467	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4829	13.3237	0.60447	1.0:0.0:0.0:0.0	.	.	.	.	X	524	.	ENSP00000262765:L524X	L	-	2	0	QRICH2	71800334	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-0.108000	0.10857	2.031000	0.59945	0.459000	0.35465	TTG	-	NULL		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	A	NM_032134	-		74288739	-1	no_errors	ENST00000262765	ensembl	human	known	74_37	nonsense	SNP	0.010	T	T	74288739	A	T	74288739	4	4	206	1	0	0	0	0	0	1	0	0	12888	131	5	5	3484	5	QRICH2	17	74288739	Nonsense_Mutation	SNP	A	TCGA-QQ-A8VH-01A-11D-A37C-09	34314303	74288739	6906471	46	17016											
MYO9B	4650	genome.wustl.edu	37	chr19	17294679	17294680	+	Splice_Site	INS	-	-	A													aagcagatcattccaaaggtINSaaaaaaaaaaacacaccccg							TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																																	2	Unknown(2)	soft_tissue(2)						ENSG00000099331																																			MYO9B	SO:0001630	splice_region_variant	0				HGNC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2373+2->A	19.37:g.17294690_17294690dupA		Somatic	0	42	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS							-	e15+2	ENST00000594824.1	37	c.2373+2_2373+1		19																																																																																			-	-		0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	protein_coding	OTTHUMT00000463236.1	-			Intron	17294680	1	no_errors	ENST00000594824	ensembl	human	known	74_37	splice_site_ins	INS	1.000:1.000	A	A	17294680	-	A	17294679	8	5	206	1	0	1	1	0	0	0	1	0	10087	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-QQ-A8VH-01A-11D-A37C-09		17294679	41834304	47	17017											
ZNF568	374900	genome.wustl.edu	37	chr19	37440596	37440596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctatgactgtgactcaCttgataagggtttggaacat	10	7	2	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr19:37440596C>T	ENST00000333987.7	+	7	1047	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.L117F|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	181					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTGACTCACTTGATAAGGG	0.338																																																	0								ENSG00000198453						100	93	95					19																	37440596		1865	4105	5970	ZNF568	SO:0001583	missense	0			-	HGNC	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.541C>T	19.37:g.37440596C>T	ENSP00000334685:p.Leu181Phe	Somatic	0	47	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	87	10.31	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L181F	ENST00000333987.7	37	c.541	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	C	0.685	-0.796543	0.02862	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.13778	2.56;2.56	4.01	-8.02	0.01118	.	0.764305	0.10763	N	0.636863	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	10	0.34782	T	0.22	.	3.1904	0.06615	0.105:0.1657:0.4143:0.315	.	181	Q3ZCX4	ZN568_HUMAN	F	181;117	ENSP00000334685:L181F;ENSP00000394514:L117F	ENSP00000334685:L181F	L	+	1	0	ZNF568	42132436	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-5.168000	0.00145	-1.325000	0.02269	-0.137000	0.14449	CTT	-	NULL		0.338	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	protein_coding	OTTHUMT00000109572.2	C	NM_198539	-		37440596	1	no_errors	ENST00000333987	ensembl	human	known	74_37	missense	SNP	0.000	T	T	37440596	C	T	37440596	3	4	206	1	0	0	0	0	1	0	0	0	18006	565	20	2	559	2	ZNF568	19	37440596	Missense_Mutation	SNP	C	TCGA-QQ-A8VH-01A-11D-A37C-09	20145917	37440596	21688387	48	17018											
CD3EAP	10849	genome.wustl.edu	37	chr19	45912057	45912057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaacagattaacactgaGcctctagaagacacagtcct	8	11	1	4	rs370766397		TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr19:45912057G>A	ENST00000309424.3	+	3	1319	c.831G>A	c.(829-831)gaG>gaA	p.E277E	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.E279E|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	277					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TTAACACTGAGCCTCTAGAAG	0.527																																																	0								ENSG00000117877	G	,,	0,4406		0,0,2203	76	75	76		,,831	-1.8	0	19		76	1,8599	2.2+/-6.3	0,1,4299	no	utr-3,utr-3,coding-synonymous	ERCC1,CD3EAP	NM_001166049.1,NM_001983.3,NM_012099.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,277/511	45912057	1,13005	2203	4300	6503	CD3EAP	SO:0001819	synonymous_variant	0			-	HGNC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.831G>A	19.37:g.45912057G>A		Somatic	0	44	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP							pfam_DNA-dir_RNA_pol1_su_RPA34	p.E279	ENST00000309424.3	37	c.837	CCDS12661.1	19																																																																																			-	NULL		0.527	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	protein_coding	OTTHUMT00000459538.1	G	NM_012099	-		45912057	1	no_errors	ENST00000589804	ensembl	human	known	74_37	silent	SNP	0.006	A	A	45912057	G	A	45912057	2	1	206	1	0	0	0	0	0	0	0	1	3014	962	34	2		2	CD3EAP	19	45912057	Silent	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	8471461	45912057	13216926	49	17019											
DGCR6	8214	genome.wustl.edu	37	chr22	18898464	18898464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagatcgtcctggagctgGaccggaaggtggctgaccag	16	9	0	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chr22:18898464G>A	ENST00000331444.6	+	4	588	c.436G>A	c.(436-438)Gac>Aac	p.D146N	DGCR6_ENST00000413981.1_Missense_Mutation_p.D10N|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	146					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCTGGAGCTGGACCGGAAGGT	0.692																																																	0								ENSG00000183628						97	80	86					22																	18898464		2203	4299	6502	DGCR6	SO:0001583	missense	0			-	HGNC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.436G>A	22.37:g.18898464G>A	ENSP00000331681:p.Asp146Asn	Somatic	0	99	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	104	27.27	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP							pfam_DGCR6	p.D146N	ENST00000331444.6	37	c.436	CCDS13753.1	22	.	.	.	.	.	.	.	.	.	.	g	34	5.380687	0.95945	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.54675	0.56	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79591	-0.1740	10	0.87932	D	0	-39.6603	14.6638	0.68893	0.0:0.0:1.0:0.0	.	146	Q14129	DGCR6_HUMAN	N	146;66	ENSP00000331681:D146N	ENSP00000331681:D146N	D	+	1	0	DGCR6	17278464	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.478000	0.73596	2.421000	0.82119	0.430000	0.28490	GAC	-	pfam_DGCR6		0.692	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	protein_coding	OTTHUMT00000316631.2	G	NM_005675	-		18898464	1	no_errors	ENST00000331444	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18898464	G	A	18898464	3	1	206	1	0	0	0	0	1	0	0	0	4464	1174	41	2	450	2	DGCR6	22	18898464	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		18898464	32406102	50	17020											
FAM47C	442444	genome.wustl.edu	37	chrX	37026574	37026574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgccttccaagtacttcGcgaagcgcaagcacaggcgc	10	15	0	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chrX:37026574G>A	ENST00000358047.3	+	1	143	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGTACTTCGCGAAGCGCAA	0.642																																																	0								ENSG00000198173						27	25	26					X																	37026574		2202	4299	6501	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.91G>A	X.37:g.37026574G>A	ENSP00000367913:p.Ala31Thr	Somatic	0	104	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	40	42.03	Q6ZU46	Missense_Mutation	SNP							NULL	p.A31T	ENST00000358047.3	37	c.91	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364786	0.24684	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.462	-0.871	0.10642	.	.	.	.	.	T	0.13372	0.0324	L	0.39898	1.24	0.09310	N	1	P	0.44241	0.829	B	0.39706	0.307	T	0.19745	-1.0296	8	0.23302	T	0.38	.	.	.	.	.	31	Q5HY64	FA47C_HUMAN	T	31	ENSP00000367913:A31T	ENSP00000367913:A31T	A	+	1	0	FAM47C	36936495	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.328000	0.07945	-0.487000	0.06735	-0.888000	0.02935	GCG	-	NULL		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	G	NM_001013736	-		37026574	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.002	A	A	37026574	G	A	37026574	3	1	206	1	0	0	0	0	1	0	0	0	5573	1087	38	1	93	1	FAM47C	23	37026574	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09		37026574	118243986	51	17021											
FAM47C	442444	genome.wustl.edu	37	chrX	37026659	37026659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggcatggacgacttccGctacggctgtcagtctcctg	14	12	2	0			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chrX:37026659G>A	ENST00000358047.3	+	1	228	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	59								p.R59L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACGACTTCCGCTACGGCTGT	0.557																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000198173						81	71	74					X																	37026659		2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.176G>A	X.37:g.37026659G>A	ENSP00000367913:p.Arg59His	Somatic	0	106	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	54	37.93	Q6ZU46	Missense_Mutation	SNP							NULL	p.R59H	ENST00000358047.3	37	c.176	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	6.630	0.484669	0.12641	.	.	ENSG00000198173	ENST00000358047	T	0.21191	2.02	0.502	-1.0	0.10196	.	.	.	.	.	T	0.15435	0.0372	L	0.52823	1.66	0.09310	N	1	B	0.31949	0.348	B	0.29716	0.106	T	0.23655	-1.0182	8	0.62326	D	0.03	.	.	.	.	.	59	Q5HY64	FA47C_HUMAN	H	59	ENSP00000367913:R59H	ENSP00000367913:R59H	R	+	2	0	FAM47C	36936580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.279000	0.08479	-1.720000	0.01380	-2.143000	0.00337	CGC	-	NULL		0.557	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	G	NM_001013736	-		37026659	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.000	A	A	37026659	G	A	37026659	3	1	206	1	0	0	0	0	1	0	0	0	5573	1087	38	1	178	1	FAM47C	23	37026659	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	85	37026659	118243901	52	17022											
ZC4H2	55906	genome.wustl.edu	37	chrX	64140081	64140081	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcatgcagcctccttgtaGactctagcagcttgtttagg	9	11	2	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chrX:64140081G>T	ENST00000374839.3	-	3	384	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S70Y|ZC4H2_ENST00000545618.1_Missense_Mutation_p.S88Y|ZC4H2_ENST00000447788.2_Missense_Mutation_p.S93Y	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	93					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTCCTTGTAGACTCTAGCAG	0.468																																																	0								ENSG00000126970						181	152	162					X																	64140081		2203	4300	6503	ZC4H2	SO:0001583	missense	0			-	HGNC	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.278C>A	X.37:g.64140081G>T	ENSP00000363972:p.Ser93Tyr	Somatic	0	83	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP							pfam_Znf-C4H2	p.S93Y	ENST00000374839.3	37	c.278	CCDS14380.1	X	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787393	0.31593	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.15	5.15	0.70609	.	0.101633	0.64402	D	0.000002	T	0.48077	0.1480	N	0.08118	0	0.58432	D	0.999999	D;P	0.55385	0.971;0.728	P;B	0.57679	0.825;0.217	T	0.53387	-0.8446	9	0.38643	T	0.18	.	15.3201	0.74115	0.0:0.0:1.0:0.0	.	93;93	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	Y	93;88;93;70	.	ENSP00000338650:S70Y	S	-	2	0	ZC4H2	64056806	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.264000	0.95635	2.297000	0.77311	0.529000	0.55759	TCT	-	pfam_Znf-C4H2		0.468	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC4H2	protein_coding	OTTHUMT00000056958.1	G	NM_018684	-		64140081	-1	no_errors	ENST00000374839	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64140081	G	T	64140081	3	4	206	1	0	0	0	0	1	0	0	0	17585	942	33	3	427	3	ZC4H2	23	64140081	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	27113422	64140081	91130479	53	17023											
ZCCHC12	170261	genome.wustl.edu	37	chrX	117959328	117959328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctataatggccagcatgGcagacagaaacatgaagttg	11	8	0	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chrX:117959328G>T	ENST00000310164.2	+	4	628	c.121G>T	c.(121-123)Gca>Tca	p.A41S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	41					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGCCAGCATGGCAGACAgaaa	0.577																																																	0								ENSG00000174460						76	68	71					X																	117959328		2203	4300	6503	ZCCHC12	SO:0001583	missense	0			-	HGNC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.121G>T	X.37:g.117959328G>T	ENSP00000308921:p.Ala41Ser	Somatic	0	54	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP							superfamily_Znf_CCHC	p.A41S	ENST00000310164.2	37	c.121	CCDS14574.1	X	.	.	.	.	.	.	.	.	.	.	G	13.77	2.334970	0.41398	.	.	ENSG00000174460	ENST00000310164	T	0.10288	2.89	3.09	3.09	0.35607	.	0.000000	0.32753	N	0.005687	T	0.18173	0.0436	M	0.80616	2.505	0.27285	N	0.957982	P	0.50443	0.935	P	0.49829	0.623	T	0.07046	-1.0793	10	0.14656	T	0.56	-0.9852	8.7855	0.34818	0.0:0.0:1.0:0.0	.	41	Q6PEW1	ZCH12_HUMAN	S	41	ENSP00000308921:A41S	ENSP00000308921:A41S	A	+	1	0	ZCCHC12	117843356	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	2.359000	0.44142	1.801000	0.52704	0.594000	0.82650	GCA	-	NULL		0.577	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	protein_coding	OTTHUMT00000058014.1	G	NM_173798	-		117959328	1	no_errors	ENST00000310164	ensembl	human	known	74_37	missense	SNP	0.996	T	T	117959328	G	T	117959328	3	4	206	1	0	0	0	0	1	0	0	0	17588	1203	42	3	123	3	ZCCHC12	23	117959328	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	53819247	117959328	37311232	54	17024											
GRIA3	2892	genome.wustl.edu	37	chrX	122616781	122616781	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgggcagagtccaaacgcatGaaactcacaaagaacaccca	8	13	1	3			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chrX:122616781G>T	ENST00000371251.1	+	15	2623	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	GRIA3_ENST00000264357.5_Missense_Mutation_p.M857I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M857I|GRIA3_ENST00000542149.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	857					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CCAAACGCATGAAACTCACAA	0.463																																																	0								ENSG00000125675						126	103	111					X																	122616781		2203	4300	6503	GRIA3	SO:0001583	missense	0			-	HGNC	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2571G>T	X.37:g.122616781G>T	ENSP00000360297:p.Met857Ile	Somatic	0	97	0		0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M857I	ENST00000371251.1	37	c.2571	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393577	0.42410	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.12465	2.68;2.7;2.68	5.81	5.81	0.92471	.	0.039534	0.85682	D	0.000000	T	0.20861	0.0502	M	0.76574	2.34	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.06405	0.001;0.002	T	0.02728	-1.1118	10	0.27082	T	0.32	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	857;857	P42263;P42263-2	GRIA3_HUMAN;.	I	857	ENSP00000264357:M857I;ENSP00000360302:M857I;ENSP00000360297:M857I	ENSP00000264357:M857I	M	+	3	0	GRIA3	122444462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.440000	0.73435	2.436000	0.82500	0.600000	0.82982	ATG	-	NULL		0.463	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	protein_coding	OTTHUMT00000058854.1	G	NM_000828	-		122616781	1	no_errors	ENST00000264357	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122616781	G	T	122616781	3	4	206	1	0	0	0	0	1	0	0	0	6771	1290	45	3	2748	3	GRIA3	23	122616781	Missense_Mutation	SNP	G	TCGA-QQ-A8VH-01A-11D-A37C-09	4657453	122616781	32653779	55	17025											
FLNA	2316	genome.wustl.edu	37	chrX	153583396	153583396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccttagtgtccacagtgaTcaccgtctcctccccaatct	6	17	3	1			TCGA-QQ-A8VH-01A-11D-A37C-09	TCGA-QQ-A8VH-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b5a400-a49b-41a3-bff0-f3b8c36e36dd	a65e8e60-03c3-468b-acb5-075ff9096122	g.chrX:153583396T>C	ENST00000369850.3	-	31	5250	c.5014A>G	c.(5014-5016)Atc>Gtc	p.I1672V	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000422373.1_Missense_Mutation_p.I1664V|FLNA_ENST00000344736.4_Missense_Mutation_p.I1664V|FLNA_ENST00000360319.4_Missense_Mutation_p.I1664V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1672					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TCCACAGTGATCACCGTCTCC	0.627											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000196924						62	62	62					X																	153583396		2154	4215	6369	FLNA	SO:0001583	missense	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5014A>G	X.37:g.153583396T>C	ENSP00000358866:p.Ile1672Val	Somatic	0	45	0	1756	0.703934627948404				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I1672V	ENST00000369850.3	37	c.5014	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661937	0.47572	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.53	4.36	0.52297	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	L	0.39633	1.23	0.80722	D	1	B;D	0.55172	0.164;0.97	B;D	0.64877	0.087;0.93	D	0.83794	0.0232	10	0.49607	T	0.09	.	6.4462	0.21877	0.1494:0.0796:0.0:0.771	.	1664;1672	P21333-2;P21333	.;FLNA_HUMAN	V	1664;1645;1664;1672;1664	ENSP00000353467:I1664V;ENSP00000416926:I1664V;ENSP00000358866:I1672V;ENSP00000358863:I1664V	ENSP00000358863:I1664V	I	-	1	0	FLNA	153236590	0.914000	0.31030	0.935000	0.37517	0.709000	0.40893	1.131000	0.31406	0.729000	0.32403	0.417000	0.27973	ATC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	T		-		153583396	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	missense	SNP	1.000	C	C	153583396	T	C	153583396	3	2	206	1	0	0	0	0	1	0	0	0	5935	1435	50	5	3001	5	FLNA	23	153583396	Missense_Mutation	SNP	T	TCGA-QQ-A8VH-01A-11D-A37C-09	30966615	153583396	1687164	56	17026											
IL1A	3552	genome.wustl.edu	37	chr2	113535602	113535602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatcttgggcagtcaCatacaattgagtttttgaga	9	7	4	2	rs547288438	byFrequency	TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr2:113535602C>A	ENST00000263339.3	-	6	732	c.577G>T	c.(577-579)Gtg>Ttg	p.V193L		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	193					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TGGGCAGTCACATACAATTGA	0.388																																																	0								ENSG00000115008						192	174	180					2																	113535602		2203	4300	6503	IL1A	SO:0001583	missense	0			-	HGNC	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.577G>T	2.37:g.113535602C>A	ENSP00000263339:p.Val193Leu	Somatic	0	52	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	96	11.11	Q53QF9|Q7RU02	Missense_Mutation	SNP							pfam_IL-1_propep,pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1	p.V193L	ENST00000263339.3	37	c.577	CCDS2101.1	2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715957	0.48622	.	.	ENSG00000115008	ENST00000263339	T	0.09073	3.02	5.48	2.52	0.30459	.	0.132879	0.34460	N	0.003945	T	0.06142	0.0159	L	0.41079	1.255	0.09310	N	1	B	0.23058	0.079	B	0.28991	0.097	T	0.42783	-0.9431	10	0.02654	T	1	-17.9785	7.9375	0.29939	0.3259:0.5164:0.1577:0.0	.	193	P01583	IL1A_HUMAN	L	193	ENSP00000263339:V193L	ENSP00000263339:V193L	V	-	1	0	IL1A	113252073	0.731000	0.28111	0.220000	0.23810	0.514000	0.34195	0.352000	0.20113	0.781000	0.33589	0.655000	0.94253	GTG	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1		0.388	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	protein_coding	OTTHUMT00000254084.1	C	NM_000575	-		113535602	-1	no_errors	ENST00000263339	ensembl	human	known	74_37	missense	SNP	0.048	A	A	113535602	C	A	113535602	3	1	207	1	0	0	0	0	1	0	0	0	7652	478	17	3	246	3	IL1A	2	113535602	Missense_Mutation	SNP	C	TCGA-RN-A68Q-01A-11D-A307-09		113535602	129663771	1	17027											
HAUS3	79441	genome.wustl.edu	37	chr4	2241964	2241964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatatctaaaagttgaaaaTtgtcttcatttgaactttca	5	5	4	2	rs368361238	byFrequency	TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr4:2241964T>C	ENST00000243706.4	-	2	939	c.710A>G	c.(709-711)aAt>aGt	p.N237S	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.N237S|HAUS3_ENST00000506763.1_Missense_Mutation_p.N237S	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	237					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAGTTGAAAATTGTCTTCATT	0.368													T|||	2	0.000399361	0.0015	0	5008	,	,		21564	0		0	False		,,,				2504	0																0								ENSG00000214367	T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	61	60	60		710	5.3	1	4		60	0,8596		0,0,4298	no	missense	HAUS3	NM_024511.5	46	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign	237/604	2241964	1,13001	2203	4298	6501	HAUS3	SO:0001583	missense	0			-	HGNC	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.710A>G	4.37:g.2241964T>C	ENSP00000243706:p.Asn237Ser	Somatic	0	84	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	123	16.33	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP							NULL	p.N237S	ENST00000243706.4	37	c.710	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969210	0.34754	2.27E-4	0.0	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.39406	1.08;1.08	5.29	5.29	0.74685	.	0.203710	0.42964	U	0.000632	T	0.35970	0.0950	M	0.72118	2.19	0.29586	N	0.848777	P;P	0.35011	0.48;0.48	B;B	0.31495	0.131;0.131	T	0.36163	-0.9759	10	0.07175	T	0.84	-42.4448	10.7332	0.46109	0.0:0.0774:0.0:0.9226	.	237;237	B4DF64;Q68CZ6	.;HAUS3_HUMAN	S	237	ENSP00000243706:N237S;ENSP00000392903:N237S	ENSP00000243706:N237S	N	-	2	0	HAUS3	2211762	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	1.611000	0.36879	2.111000	0.64477	0.533000	0.62120	AAT	-	NULL		0.368	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	protein_coding	OTTHUMT00000357446.1	T	NM_024511	-		2241964	-1	no_errors	ENST00000243706	ensembl	human	known	74_37	missense	SNP	1.000	C	C	2241964	T	C	2241964	3	2	207	1	0	0	0	0	1	0	0	0	6969	1493	52	5	1117	5	HAUS3	4	2241964	Missense_Mutation	SNP	T	TCGA-RN-A68Q-01A-11D-A307-09		2241964	188912312	2	17028											
LARP1	23367	genome.wustl.edu	37	chr5	154191148	154191148	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatttggacattgaccccaAactgcaagaatacctcggca	7	11	0	2			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr5:154191148A>T	ENST00000336314.4	+	18	2822	c.2798A>T	c.(2797-2799)aAa>aTa	p.K933I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1010					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTGACCCCAAACTGCAAGAA	0.443																																																	0								ENSG00000155506						97	99	99					5																	154191148		2203	4300	6503	LARP1	SO:0001583	missense	0			-	HGNC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2798A>T	5.37:g.154191148A>T	ENSP00000336721:p.Lys933Ile	Somatic	0	26	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP							pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.K933I	ENST00000336314.4	37	c.2798	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667303	0.67814	.	.	ENSG00000155506	ENST00000336314	T	0.27890	1.64	5.89	5.89	0.94794	.	0.046337	0.85682	D	0.000000	T	0.40498	0.1119	M	0.85041	2.73	0.58432	D	0.999996	B;B	0.26041	0.086;0.14	B;B	0.27170	0.035;0.077	T	0.41070	-0.9529	10	0.66056	D	0.02	-13.2127	11.4016	0.49873	0.8652:0.0:0.0:0.1348	.	1010;933	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	I	933	ENSP00000336721:K933I	ENSP00000336721:K933I	K	+	2	0	LARP1	154171341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.264000	0.78432	2.254000	0.74563	0.459000	0.35465	AAA	-	NULL		0.443	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	protein_coding	OTTHUMT00000252509.1	A	NM_033551	-		154191148	1	no_errors	ENST00000336314	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154191148	A	T	154191148	3	4	207	1	0	0	0	0	1	0	0	0	8630	14	1	5	2868	5	LARP1	5	154191148	Missense_Mutation	SNP	A	TCGA-RN-A68Q-01A-11D-A307-09		154191148	26724112	3	17029											
GPT	2875	genome.wustl.edu	37	chr8	145730424	145730424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagctgatccgggaggaCgtggcgcggtacattgagag	16	9	0	2			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr8:145730424C>T	ENST00000528431.1	+	5	562	c.405C>T	c.(403-405)gaC>gaT	p.D135D	GPT_ENST00000394955.2_Silent_p.D135D			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	135					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TCCGGGAGGACGTGGCGCGGT	0.642																																																	0								ENSG00000167701						79	80	80					8																	145730424		2203	4300	6503	GPT	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.405C>T	8.37:g.145730424C>T		Somatic	0	63	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	81	19.00	B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP							pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.D135	ENST00000528431.1	37	c.405	CCDS6430.1	8																																																																																			-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.642	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	protein_coding	OTTHUMT00000382471.1	C		-		145730424	1	no_errors	ENST00000394955	ensembl	human	known	74_37	silent	SNP	0.985	T	T	145730424	C	T	145730424	2	4	207	1	0	0	0	0	0	0	0	1	6739	535	19	1		1	GPT	8	145730424	Silent	SNP	C	TCGA-RN-A68Q-01A-11D-A307-09		145730424	633598	4	17030											
WNK1	65125	genome.wustl.edu	37	chr12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A													gttggtacgggaggagcaagINSaaaaaaaaaagcaggaagag							TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					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)	p.?(1)		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)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)						ENSG00000060237																																			WNK1	SO:0001589	frameshift_variant	0				HGNC	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.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs	Somatic	0	45	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	61	8.96	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			-	NULL		0.47	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	-	NM_018979			970297	1	no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	970297	-	A	970296	7	5	207	1	0	1	1	0	0	0	0	0	17384	943	33	0	1764	0	WNK1	12	970296	Frame_Shift_Ins	INS	-	TCGA-RN-A68Q-01A-11D-A307-09		970296	132881599	5	17031											
VWF	7450	genome.wustl.edu	37	chr12	6143932	6143932	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtagtgggccatgccgatCgtggagcacgtggcatcaca	15	10	1	0			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr12:6143932C>T	ENST00000261405.5	-	20	2861	c.2607G>A	c.(2605-2607)acG>acA	p.T869T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	869	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCATGCCGATCGTGGAGCACG	0.582																																																	0								ENSG00000110799						186	147	160					12																	6143932		2203	4300	6503	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2607G>A	12.37:g.6143932C>T		Somatic	0	115	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	171	20.83	Q8TCE8|Q99806	Silent	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.T869	ENST00000261405.5	37	c.2607	CCDS8539.1	12																																																																																			-	pirsf_VWF,pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	C	NM_000552	-		6143932	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	0.000	T	T	6143932	C	T	6143932	2	4	207	1	0	0	0	0	0	0	0	1	17253	871	31	1		1	VWF	12	6143932	Silent	SNP	C	TCGA-RN-A68Q-01A-11D-A307-09	5173636	6143932	127707963	6	17032											
ABAT	18	genome.wustl.edu	37	chr16	8862051	8862051	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatatttcttggttttaggCccctggctgccccgactaca	9	12	1	1			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr16:8862051C>G	ENST00000396600.2	+	10	1543	c.605C>G	c.(604-606)gCc>gGc	p.A202G	ABAT_ENST00000567812.1_Splice_Site_p.A217G|ABAT_ENST00000268251.8_Splice_Site_p.A202G|ABAT_ENST00000425191.2_Splice_Site_p.A202G|ABAT_ENST00000569156.1_Splice_Site_p.A202G	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	202					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGTTTTAGGCCCCTGGCTGC	0.522																																																	0								ENSG00000183044						100	93	95					16																	8862051		2197	4300	6497	ABAT	SO:0001630	splice_region_variant	0			-	HGNC	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.604-1C>G	16.37:g.8862051C>G		Somatic	0	70	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	121	19.87	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP							pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk	p.A202G	ENST00000396600.2	37	c.605	CCDS10534.1	16	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848145	0.32699	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.76839	-1.05;-1.05;-1.05	5.61	3.41	0.39046	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.647844	0.17199	N	0.183210	T	0.69842	0.3156	L	0.56124	1.755	0.26815	N	0.968928	B	0.14438	0.01	B	0.20767	0.031	T	0.60682	-0.7215	10	0.41790	T	0.15	-8.754	6.416	0.21717	0.1404:0.6545:0.1278:0.0773	.	202	P80404	GABT_HUMAN	G	202	ENSP00000268251:A202G;ENSP00000379845:A202G;ENSP00000411916:A202G	ENSP00000268251:A202G	A	+	2	0	ABAT	8769552	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	2.235000	0.43044	1.339000	0.45563	0.555000	0.69702	GCC	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk		0.522	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	protein_coding	OTTHUMT00000433620.2	C	NM_020686	-	Missense_Mutation	8862051	1	no_errors	ENST00000268251	ensembl	human	known	74_37	missense	SNP	0.989	G	G	8862051	C	G	8862051	5	3	207	1	0	0	0	0	0	0	1	0	27	753	26	4	639	4	ABAT	16	8862051	Splice_Site	SNP	C	TCGA-RN-A68Q-01A-11D-A307-09		8862051	81492702	7	17033											
LPPR3	79948	genome.wustl.edu	37	chr19	814640	814640	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggttggggtcagggagggctCcccacgggtcagcaagaggg	20	9	2	1			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr19:814640C>G	ENST00000520876.3	-	7	736				LPPR3_ENST00000359894.2_Missense_Mutation_p.E237Q|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN								integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AGGGAGGGCTCCCCACGGGTC	0.652																																																	0								ENSG00000129951						52	54	53					19																	814640		2196	4299	6495	LPPR3	SO:0001627	intron_variant	0			-	Uniprot_gn																												ENST00000520876.3:c.658-33G>C	19.37:g.814640C>G		Somatic	0	77	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	138	15.76	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E237Q	ENST00000520876.3	37	c.709	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	C	7.593	0.671074	0.14776	.	.	ENSG00000129951	ENST00000359894	T	0.22539	1.95	2.58	0.142	0.14816	.	15.374300	0.00424	U	0.000075	T	0.12050	0.0293	.	.	.	0.09310	N	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.16778	-1.0391	8	.	.	.	.	3.5333	0.07785	0.0:0.5025:0.2083:0.2891	.	237	Q6T4P5-3	.	Q	237	ENSP00000352962:E237Q	.	E	-	1	0	AC006273.1	765640	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-3.086000	0.00611	0.057000	0.16193	0.305000	0.20034	GAG	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.652	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	protein_coding	OTTHUMT00000379096.3	C		-		814640	-1	no_errors	ENST00000359894	ensembl	human	known	74_37	missense	SNP	0.000	G	G	814640	C	G	814640	1	3	207	0	1	0	0	0	0	0	0	0	8928	864	30	4		4	LPPR3	19	814640	Intron	SNP	C	TCGA-RN-A68Q-01A-11D-A307-09		814640	58314343	8	17034											
ZFR2	23217	genome.wustl.edu	37	chr19	3834851	3834851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcctggccggagtgggGctggtatccaccgtaccctg	15	12	0	0			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr19:3834851G>T	ENST00000262961.4	-	2	194	c.184C>A	c.(184-186)Ccc>Acc	p.P62T	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	62							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCGGAGTGGGGCTGGTATCCA	0.657																																																	0								ENSG00000105278						20	25	23					19																	3834851		1962	4142	6104	ZFR2	SO:0001583	missense	0			-	HGNC	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.184C>A	19.37:g.3834851G>T	ENSP00000262961:p.Pro62Thr	Somatic	0	89	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	169	11.52		Missense_Mutation	SNP							pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.P62T	ENST00000262961.4	37	c.184	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	G	7.981	0.751289	0.15778	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.15139	3.24;2.45	3.39	2.25	0.28309	.	0.774714	0.11008	U	0.609817	T	0.08268	0.0206	L	0.34521	1.04	0.80722	D	1	P	0.39480	0.675	B	0.29176	0.099	T	0.20107	-1.0285	10	0.05351	T	0.99	-7.5765	7.6561	0.28375	0.0:0.2934:0.7066:0.0	.	62	Q9UPR6	ZFR2_HUMAN	T	62	ENSP00000262961:P62T;ENSP00000388974:P62T	ENSP00000262961:P62T	P	-	1	0	ZFR2	3785851	0.103000	0.21917	0.230000	0.23976	0.010000	0.07245	0.257000	0.18369	1.742000	0.51746	0.542000	0.68232	CCC	-	NULL		0.657	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	protein_coding	OTTHUMT00000453648.2	G	NM_015174	-		3834851	-1	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	SNP	0.956	T	T	3834851	G	T	3834851	3	4	207	1	0	0	0	0	1	0	0	0	17667	1203	42	3	2707	3	ZFR2	19	3834851	Missense_Mutation	SNP	G	TCGA-RN-A68Q-01A-11D-A307-09	3020211	3834851	55294132	9	17035											
OR7D4	125958	genome.wustl.edu	37	chr19	9325401	9325401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaggttccccagcaccGtgaccaggtacatggacagg	13	12	0	2	rs148654687	byFrequency	TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr19:9325401G>A	ENST00000308682.2	-	1	141	c.113C>T	c.(112-114)aCg>aTg	p.T38M		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	38						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						CCCCAGCACCGTGACCAGGTA	0.522													G|||	2	0.000399361	8e-04	0	5008	,	,		18844	0.001		0	False		,,,				2504	0																0								ENSG00000174667	G	MET/THR	5,4401	9.9+/-24.2	0,5,2198	76	73	74		113	2.8	0.6	19	dbSNP_134	74	0,8600		0,0,4300	no	missense	OR7D4	NM_001005191.2	81	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	38/313	9325401	5,13001	2203	4300	6503	OR7D4	SO:0001583	missense	0			-	HGNC		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.113C>T	19.37:g.9325401G>A	ENSP00000310488:p.Thr38Met	Somatic	0	80	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	122	16.44	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T38M	ENST00000308682.2	37	c.113	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873143	0.17322	0.001135	0.0	ENSG00000174667	ENST00000308682	T	0.00504	6.94	3.92	2.84	0.33178	.	0.330554	0.26355	N	0.024852	T	0.00998	0.0033	H	0.96604	3.85	0.25703	N	0.985567	P	0.51653	0.947	B	0.39531	0.302	T	0.42361	-0.9456	10	0.87932	D	0	.	6.7623	0.23548	0.1002:0.1818:0.718:0.0	.	38	Q8NG98	OR7D4_HUMAN	M	38	ENSP00000310488:T38M	ENSP00000310488:T38M	T	-	2	0	OR7D4	9186401	0.004000	0.15560	0.577000	0.28562	0.010000	0.07245	1.564000	0.36375	0.979000	0.38497	0.436000	0.28706	ACG	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	G		rs148654687		9325401	-1	no_errors	ENST00000308682	ensembl	human	known	74_37	missense	SNP	0.586	A	A	9325401	G	A	9325401	3	1	207	1	0	0	0	0	1	0	0	0	11222	1145	40	1	829	1	OR7D4	19	9325401	Missense_Mutation	SNP	G	TCGA-RN-A68Q-01A-11D-A307-09	5490550	9325401	49803582	10	17036											
OLFM2	93145	genome.wustl.edu	37	chr19	9965243	9965243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccagagcccgctctcGtccaccatgaagtccatgtc	8	17	1	2	rs200166801		TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr19:9965243G>A	ENST00000264833.4	-	6	1169	c.984C>T	c.(982-984)gaC>gaT	p.D328D	OLFM2_ENST00000590841.1_Silent_p.D250D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	328	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCCGCTCTCGTCCACCATGA	0.657																																																	0								ENSG00000105088	G		0,4406		0,0,2203	61	59	60		984	2.4	1	19		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OLFM2	NM_058164.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		328/455	9965243	1,13005	2203	4300	6503	OLFM2	SO:0001819	synonymous_variant	0			-	HGNC	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.984C>T	19.37:g.9965243G>A		Somatic	0	64	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	53	28.38	Q6IMJ3|Q96FC2	Silent	SNP							pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.D328	ENST00000264833.4	37	c.984	CCDS12221.1	19																																																																																			-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like		0.657	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	protein_coding	OTTHUMT00000451119.1	G		rs200166801		9965243	-1	no_errors	ENST00000264833	ensembl	human	known	74_37	silent	SNP	1.000	A	A	9965243	G	A	9965243	2	1	207	1	0	0	0	0	0	0	0	1	10855	1136	40	1		1	OLFM2	19	9965243	Silent	SNP	G	TCGA-RN-A68Q-01A-11D-A307-09	639842	9965243	49163740	11	17037											
KRTAP12-1	353332	genome.wustl.edu	37	chr21	46101928	46101928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggctggcttgaagctcacGggcacgcacacggaggactg	15	12	1	1			TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr21:46101928G>A	ENST00000391617.1	-	1	150	c.111C>T	c.(109-111)ccC>ccT	p.P37P	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	37	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						TGAAGCTCACGGGCACGCACA	0.692																																																	0								ENSG00000187175						61	71	67					21																	46101928		2188	4274	6462	KRTAP12-1	SO:0001819	synonymous_variant	0			-	HGNC	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"Keratin associated proteins"	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.111C>T	21.37:g.46101928G>A		Somatic	0	115	0		0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	118	21.85	Q0VAS3	Silent	SNP							NULL	p.P37	ENST00000391617.1	37	c.111	CCDS42966.1	21																																																																																			-	NULL		0.692	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-1	protein_coding	OTTHUMT00000128043.1	G	NM_181686	-		46101928	-1	no_errors	ENST00000391617	ensembl	human	known	74_37	silent	SNP	0.014	A	A	46101928	G	A	46101928	2	1	207	1	0	0	0	0	0	0	0	1	8520	1103	39	1		1	KRTAP12-1	21	46101928	Silent	SNP	G	TCGA-RN-A68Q-01A-11D-A307-09		46101928	2027967	12	17038											
SOX10	6663	genome.wustl.edu	37	chr22	38374051	38374052	+	In_Frame_Ins	INS	-	-	GTACTT													ttcttccgccgcctgggctgINSgtacttgtagtccgggtggt							TCGA-RN-A68Q-01A-11D-A307-09	TCGA-RN-A68Q-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c3787ae-7994-4448-a01f-347bcb22368c	61a568f9-beb4-45a9-92b9-30cf2001d4fe	g.chr22:38374051_38374052insGTACTT	ENST00000396884.2	-	3	801_802	c.519_520insAAGTAC	c.(517-522)taccag>tacAAGTACcag	p.172_173insYK	SOX10_ENST00000470555.1_5'Flank|SOX10_ENST00000360880.2_In_Frame_Ins_p.172_173insYK|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	172					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CGCCTGGGCTGGTACTTGTAGT	0.668																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)												0								ENSG00000100146																																			SOX10	SO:0001652	inframe_insertion	0				HGNC		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.514_519dupAAGTAC	22.37:g.38374052_38374057dupGTACTT	ENSP00000380093:p.Tyr171_Lys172dup	Somatic					0.435581778729005				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4DV62|Q6FHW7	In_Frame_Ins	INS							pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.173in_frame_insKY	ENST00000396884.2	37	c.520_519	CCDS13964.1	22																																																																																			-	superfamily_HMG_box_dom,smart_HMG_box_dom		0.668	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	protein_coding	OTTHUMT00000313875.1	-	NM_006941			38374052	-1	no_errors	ENST00000360880	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	GTACTT	GTACTT	38374052	-	GTACTT	38374051	7	5	207	1	0	1	1	0	0	0	0	0	14949	1357	47	0	888	0	SOX10	22	38374051	In_Frame_Ins	INS	-	TCGA-RN-A68Q-01A-11D-A307-09		38374051	12930515	13	17039											
AMY2B	280	genome.wustl.edu	37	chr1	104117892	104117892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgacagagcacttgTctttgtggataaccatgaca	9	10	2	3	rs140209167	byFrequency	TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr1:104117892T>G	ENST00000361355.4	+	8	1542	c.926T>G	c.(925-927)gTc>gGc	p.V309G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	309					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAGCACTTGTCTTTGTGGAT	0.408																																																	0								ENSG00000240038						275	274	275					1																	104117892		2203	4298	6501	AMY2B	SO:0001583	missense	0			-	HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.926T>G	1.37:g.104117892T>G	ENSP00000354610:p.Val309Gly	Somatic	0	187	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	107	31.85	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP							pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.V309G	ENST00000361355.4	37	c.926	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269586	0.80469	.	.	ENSG00000240038	ENST00000361355	D	0.98512	-4.97	5.26	4.12	0.48240	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.98351	4.21	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98678	1.0691	10	0.87932	D	0	.	11.3322	0.49484	0.0:0.0734:0.0:0.9266	.	309	P19961	AMY2B_HUMAN	G	309	ENSP00000354610:V309G	ENSP00000354610:V309G	V	+	2	0	AMY2B	103919415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.096000	0.64535	1.992000	0.58205	0.456000	0.33151	GTC	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase		0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	T	NM_020978	-		104117892	1	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104117892	T	G	104117892	3	3	208	1	0	0	0	0	1	0	0	0	595	1667	58	5	948	5	AMY2B	1	104117892	Missense_Mutation	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09		104117892	145132729	1	17040											
NBPF10	100132406	genome.wustl.edu	37	chr1	145295521	145295521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaagcaagctgaggagCtcaggtgaggggaccccata	15	9	1	3	rs75821470		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr1:145295521C>T	ENST00000342960.5	+	2	309	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	92						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGCTGAGGAGCTCAGGTGAGG	0.532																																																	0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.274C>T	1.37:g.145295521C>T	ENSP00000345684:p.Leu92Phe	Somatic	0	28	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	Q5RHC0|Q9NWN6	Missense_Mutation	SNP							pfam_NBPF_dom	p.L92F	ENST00000342960.5	37	c.274	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536580	0.27475	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03242	4.0	1.15	1.15	0.20763	.	.	.	.	.	T	0.02230	0.0069	L	0.59436	1.845	0.09310	N	1	.	.	.	.	.	.	T	0.45934	-0.9227	7	0.37606	T	0.19	.	5.8185	0.18514	0.0:1.0:0.0:0.0	.	.	.	.	F	92	ENSP00000345684:L92F	ENSP00000345684:L92F	L	+	1	0	NBPF10	144006878	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-0.401000	0.07232	0.963000	0.38082	0.121000	0.15741	CTC	-	NULL		0.532	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	protein_coding		C	NM_001039703	rs75821470		145295521	1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.005	T	T	145295521	C	T	145295521	3	4	208	1	0	0	0	0	1	0	0	0	10195	797	28	2	280	2	NBPF10	1	145295521	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	41177629	145295521	103955100	2	17041											
FCRL1	115350	genome.wustl.edu	37	chr1	157776895	157776895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagtgcaactcaccggCaggttcacagagtggagctg	14	9	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr1:157776895C>A	ENST00000368176.3	-	2	116	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	FCRL1_ENST00000489998.1_5'Flank|FCRL1_ENST00000491942.1_Missense_Mutation_p.A17S|FCRL1_ENST00000358292.3_Missense_Mutation_p.A17S	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	17	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AACTCACCGGCAGGTTCACAG	0.483																																					GBM(54;482 1003 11223 30131 35730)												0								ENSG00000163534						73	70	71					1																	157776895		2203	4300	6503	FCRL1	SO:0001583	missense	0			-	HGNC	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.49G>T	1.37:g.157776895C>A	ENSP00000357158:p.Ala17Ser	Somatic	0	48	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP							pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A17S	ENST00000368176.3	37	c.49	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846234	0.16963	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.42513	0.97;1.16;1.16	4.56	-4.09	0.03951	Immunoglobulin-like (1);	4.483100	0.01863	U	0.036766	T	0.08268	0.0206	N	0.22421	0.69	0.09310	N	1	B;B;B	0.19073	0.019;0.033;0.004	B;B;B	0.12156	0.002;0.003;0.007	T	0.07366	-1.0776	10	0.07482	T	0.82	.	8.5577	0.33492	0.1531:0.6702:0.0:0.1767	.	17;17;17	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	S	17	ENSP00000351039:A17S;ENSP00000357158:A17S;ENSP00000418130:A17S	ENSP00000351039:A17S	A	-	1	0	FCRL1	156043519	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-1.139000	0.03213	-0.499000	0.06623	-0.290000	0.09829	GCC	-	pfscan_Ig-like_dom		0.483	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	protein_coding	OTTHUMT00000051401.1	C	NM_052938	-		157776895	-1	no_errors	ENST00000368176	ensembl	human	known	74_37	missense	SNP	0.000	A	A	157776895	C	A	157776895	3	1	208	1	0	0	0	0	1	0	0	0	5796	710	25	3	1346	3	FCRL1	1	157776895	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	12481374	157776895	91473726	3	17042											
KIRREL	55243	genome.wustl.edu	37	chr1	158064643	158064643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcccacaccccctggCcctgctgccccagctggcac	9	22	0	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr1:158064643C>T	ENST00000359209.6	+	15	2074	c.2007C>T	c.(2005-2007)ggC>ggT	p.G669G	KIRREL_ENST00000360089.4_Silent_p.G505G|KIRREL_ENST00000416935.2_Silent_p.G569G|KIRREL_ENST00000368173.3_Silent_p.G685G|KIRREL_ENST00000392272.2_Silent_p.G566G|KIRREL_ENST00000368172.1_Silent_p.G483G			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	669					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACCCCCTGGCCCTGCTGCCC	0.637																																																	0								ENSG00000183853						48	49	49					1																	158064643		2203	4300	6503	KIRREL	SO:0001819	synonymous_variant	0			-	HGNC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2007C>T	1.37:g.158064643C>T		Somatic	0	81	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G685	ENST00000359209.6	37	c.2055	CCDS1172.2	1																																																																																			-	NULL		0.637	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	protein_coding	OTTHUMT00000058342.3	C	NM_018240	-		158064643	1	no_errors	ENST00000368173	ensembl	human	known	74_37	silent	SNP	0.932	T	T	158064643	C	T	158064643	2	4	208	1	0	0	0	0	0	0	0	1	8326	726	26	2		2	KIRREL	1	158064643	Silent	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	287748	158064643	91185978	4	17043											
GPR37L1	9283	genome.wustl.edu	37	chr1	202092707	202092722	+	Splice_Site	DEL	GTGCCCTTCATGGAGG	GTGCCCTTCATGGAGG	-													gtgacgtttcttgtcgtgccGtgcccttcatggaggtgagt					rs142090957	byFrequency	TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	GTGCCCTTCATGGAGG	GTGCCCTTCATGGAGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr1:202092707_202092722delGTGCCCTTCATGGAGG	ENST00000367282.5	+	1	722_736	c.616_630delGTGCCCTTCATGGAGG	c.(616-630)gtgcccttcatggagdel	p.VPFME206fs		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	206					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V206M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTGTCGTGCCGTGCCCTTCATGGAGGTGAGTGTGTG	0.519																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000170075																																			GPR37L1	SO:0001630	splice_region_variant	0				HGNC	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.630+1GTGCCCTTCATGGAGG>-	1.37:g.202092707_202092722delGTGCCCTTCATGGAGG		Somatic					0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R7M9|Q5SXP7|Q86VP7	Splice_Site	DEL							-	e2-1	ENST00000367282.5	37	c.630+16_630+1	CCDS1420.1	1																																																																																			-	-		0.519	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	protein_coding	OTTHUMT00000087496.2	GTGCCCTTCATGGAGG	NM_004767		Frame_Shift_Del	202092722	1	no_errors	ENST00000367282	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.998:1.000:1.000:1.000:1.000:1.000:1.000	-	-	202092722	GTGCCCTTCATGGAGG	-	202092707	8	5	208	1	0	1	0	1	0	0	1	0	6694	1145	40	0	618	0	GPR37L1	1	202092707	Splice_Site	DEL	GTGCCCTTCATGGAGG	TCGA-RN-AAAQ-01A-21D-A38Z-09	44028064	202092707	47157914	5	17044											
ZNF638	27332	genome.wustl.edu	37	chr2	71651102	71651102	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactggattacagagatatAacaaaacaatctcaggaaac	6	7	1	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr2:71651102A>C	ENST00000409544.1	+	22	5088	c.4458A>C	c.(4456-4458)atA>atC	p.I1486I	ZNF638_ENST00000264447.4_Silent_p.I1486I|ZNF638_ENST00000409407.1_Silent_p.I426I|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1486					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						ACAGAGATATAACAAAACAAT	0.458																																																	0								ENSG00000075292						56	54	54					2																	71651102		2203	4300	6503	ZNF638	SO:0001819	synonymous_variant	0			-	HGNC	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.4458A>C	2.37:g.71651102A>C		Somatic	0	28	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP							pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.I1486	ENST00000409544.1	37	c.4458	CCDS1917.1	2																																																																																			-	NULL		0.458	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	A	NM_014497	-		71651102	1	no_errors	ENST00000264447	ensembl	human	known	74_37	silent	SNP	0.997	C	C	71651102	A	C	71651102	2	2	208	1	0	0	0	0	0	0	0	1	18062	352	13	5		5	ZNF638	2	71651102	Silent	SNP	A	TCGA-RN-AAAQ-01A-21D-A38Z-09		71651102	171548271	6	17045											
LMAN2L	81562	genome.wustl.edu	37	chr2	97373089	97373089	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacaccagggagaaaaagacGatgaggaagagggccaggcc	15	8	0	4			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr2:97373089G>T	ENST00000264963.4	-	8	973	c.951C>A	c.(949-951)atC>atA	p.I317I	LMAN2L_ENST00000426463.2_Silent_p.I183I|LMAN2L_ENST00000377079.4_Silent_p.I328I|FER1L5_ENST00000457909.1_RNA|LMAN2L_ENST00000534882.1_Silent_p.I172I|LMAN2L_ENST00000537039.1_Silent_p.I179I	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	317					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGAAAAAGACGATGAGGAAGA	0.517																																																	0								ENSG00000114988						48	43	45					2																	97373089		2203	4300	6503	LMAN2L	SO:0001819	synonymous_variant	0			-	HGNC	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.951C>A	2.37:g.97373089G>T		Somatic	0	27	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP							pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.I328	ENST00000264963.4	37	c.984	CCDS2023.1	2																																																																																			-	NULL		0.517	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	protein_coding	OTTHUMT00000252844.1	G	NM_030805	-		97373089	-1	no_errors	ENST00000377079	ensembl	human	known	74_37	silent	SNP	0.991	T	T	97373089	G	T	97373089	2	4	208	1	0	0	0	0	0	0	0	1	8841	1048	37	3		3	LMAN2L	2	97373089	Silent	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	25721987	97373089	145826284	7	17046											
SYN2	7079	genome.wustl.edu	37	chr3	12203603	12203603	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagagcctttcattgactCcaagtatgacatccgggtcc	9	12	1	3	rs552553854		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr3:12203603C>T	ENST00000287814.4	-	0	0				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TTCATTGACTCCAAGTATGAC	0.478																																					Melanoma(199;1446 2144 30617 38794 51714)												0								ENSG00000157152						75	78	77					3																	12203603		2172	4293	6465	SYN2	SO:0001631	upstream_gene_variant	0			-	HGNC	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12203603C>T	Exception_encountered	Somatic	0	50	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2R7K6	RNA	SNP							-	NULL	ENST00000287814.4	37	NULL	CCDS2608.1	3	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928295	0.52759	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.95	4.95	0.65309	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.184059	0.48286	D	0.000194	T	0.74007	0.3660	M	0.73962	2.25	0.45718	D	0.998625	P;P	0.49783	0.928;0.829	P;B	0.52343	0.696;0.386	T	0.78460	-0.2195	9	0.87932	D	0	-8.0276	18.4057	0.90535	0.0:1.0:0.0:0.0	.	310;310	Q92777;Q92777-2	SYN2_HUMAN;.	F	242	.	ENSP00000442512:S242F	S	+	2	0	SYN2	12178603	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	7.646000	0.83445	2.576000	0.86940	0.655000	0.94253	TCC	-	-		0.478	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN2	protein_coding	OTTHUMT00000251978.1	C	NM_003256	-		12203603	1	no_errors	ENST00000425297	ensembl	human	known	74_37	rna	SNP	1.000	T	T	12203603	C	T	12203603	1	4	208	0	1	0	0	0	0	0	0	0	15448	855	30	2		2	SYN2	3	12203603	5'Flank	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		12203603	185818827	8	17047											
GNAT1	2779	genome.wustl.edu	37	chr3	50230725	50230725	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggacgggtactcgctGgaagagtgcctcgagtttat	13	10	0	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr3:50230725G>T	ENST00000433068.1	+	3	233	c.177G>T	c.(175-177)ctG>ctT	p.L59L	GNAT1_ENST00000232461.3_Silent_p.L59L	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	59					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTACTCGCTGGAAGAGTGCC	0.602											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000114349						111	99	103					3																	50230725		2203	4300	6503	GNAT1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.177G>T	3.37:g.50230725G>T		Somatic	0	43	0	968	0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q4VBN2	Silent	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.L59	ENST00000433068.1	37	c.177	CCDS2812.1	3																																																																																			-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.602	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GNAT1	protein_coding	OTTHUMT00000345957.1	G	NM_000172	-		50230725	1	no_errors	ENST00000232461	ensembl	human	known	74_37	silent	SNP	1.000	T	T	50230725	G	T	50230725	2	4	208	1	0	0	0	0	0	0	0	1	6513	1335	47	3		3	GNAT1	3	50230725	Silent	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	38027122	50230725	147791705	9	17048											
LMOD3	56203	genome.wustl.edu	37	chr3	69171266	69171266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggatttcacaaaggtgacaGgaactcgttcctcttccagc	9	12	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr3:69171266G>T	ENST00000420581.2	-	1	451	c.272C>A	c.(271-273)cCt>cAt	p.P91H	LMOD3_ENST00000489031.1_Missense_Mutation_p.P91H|LMOD3_ENST00000475434.1_Missense_Mutation_p.P91H	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	91	Glu-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AAAGGTGACAGGAACTCGTTC	0.453																																																	0								ENSG00000163380						72	67	68					3																	69171266		1901	4119	6020	LMOD3	SO:0001583	missense	0			-	HGNC	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.272C>A	3.37:g.69171266G>T	ENSP00000414670:p.Pro91His	Somatic	0	66	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP							pfam_Tropomodulin	p.P91H	ENST00000420581.2	37	c.272	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746485	0.69418	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.59638	0.25;0.25;0.25	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69654	-0.5087	10	0.18710	T	0.47	-10.8286	19.8051	0.96529	0.0:0.0:1.0:0.0	.	91	Q0VAK6	LMOD3_HUMAN	H	91	ENSP00000414670:P91H;ENSP00000417210:P91H;ENSP00000418645:P91H	ENSP00000414670:P91H	P	-	2	0	LMOD3	69253956	1.000000	0.71417	0.995000	0.50966	0.432000	0.31715	9.869000	0.99810	2.702000	0.92279	0.591000	0.81541	CCT	-	pfam_Tropomodulin		0.453	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	protein_coding	OTTHUMT00000352138.1	G	XM_067529	-		69171266	-1	no_errors	ENST00000420581	ensembl	human	known	74_37	missense	SNP	1.000	T	T	69171266	G	T	69171266	3	4	208	1	0	0	0	0	1	0	0	0	8860	1000	35	3	1422	3	LMOD3	3	69171266	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	18940541	69171266	128851164	10	17049											
ZNF732	654254	genome.wustl.edu	37	chr4	265156	265156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgtaaggtttctctccaGtatgaattgtcttatgttta	7	6	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr4:265156G>A	ENST00000419098.1	-	4	1500	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	497					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.T497S(1)		endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAATTGT	0.378																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000186777						60	55	56					4																	265156		692	1591	2283	ZNF732	SO:0001583	missense	0			-	HGNC	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1490C>T	4.37:g.265156G>A	ENSP00000415774:p.Thr497Ile	Somatic	0	56	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	42	30.00		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T497I	ENST00000419098.1	37	c.1490	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629873	0.28978	.	.	ENSG00000186777	ENST00000419098	T	0.25749	1.78	0.977	-0.566	0.11767	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	M	0.63843	1.955	0.27926	N	0.938059	B	0.25105	0.118	B	0.24006	0.05	T	0.25047	-1.0143	9	0.72032	D	0.01	.	5.3022	0.15783	0.2526:0.0:0.7474:0.0	.	497	B4DXR9	ZN732_HUMAN	I	497	ENSP00000415774:T497I	ENSP00000415774:T497I	T	-	2	0	ZNF732	255156	0.044000	0.20184	0.073000	0.20177	0.068000	0.16541	1.088000	0.30877	-0.502000	0.06596	-0.497000	0.04613	ACT	-	pfscan_Znf_C2H2		0.378	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	protein_coding	OTTHUMT00000357937.2	G	NM_001137608	-		265156	-1	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	SNP	0.996	A	A	265156	G	A	265156	3	1	208	1	0	0	0	0	1	0	0	0	18130	1029	36	2	271	2	ZNF732	4	265156	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		265156	190889120	11	17050											
SLC4A4	8671	genome.wustl.edu	37	chr4	72121054	72121054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaatctctgagaactActctgacaaatcagatattg	9	7	3	4			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr4:72121054A>G	ENST00000264485.5	+	3	308	c.191A>G	c.(190-192)tAc>tGc	p.Y64C	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Y64C|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Y64C	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	64					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TCTGAGAACTACTCTGACAAA	0.463																																																	0								ENSG00000080493						142	147	145					4																	72121054		1933	4131	6064	SLC4A4	SO:0001583	missense	0			-	HGNC	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.191A>G	4.37:g.72121054A>G	ENSP00000264485:p.Tyr64Cys	Somatic	0	50	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	79	18.56	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.Y64C	ENST00000264485.5	37	c.191	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664450	0.47572	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	T;T;T	0.77750	-1.12;-1.12;-0.74	5.7	5.7	0.88788	.	0.136545	0.49916	D	0.000140	T	0.60728	0.2291	N	0.03608	-0.345	0.80722	D	1	P;B;P	0.41265	0.744;0.32;0.744	B;B;B	0.40659	0.336;0.325;0.336	T	0.68891	-0.5289	10	0.48119	T	0.1	.	15.1587	0.72764	1.0:0.0:0.0:0.0	.	64;64;64	A5JJ20;Q9Y6R1-4;Q9Y6R1	.;.;S4A4_HUMAN	C	64	ENSP00000264485:Y64C;ENSP00000393557:Y64C;ENSP00000307349:Y64C	ENSP00000264485:Y64C	Y	+	2	0	SLC4A4	72339918	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.231000	0.58639	2.173000	0.68751	0.528000	0.53228	TAC	-	NULL		0.463	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	protein_coding	OTTHUMT00000362090.1	A	NM_003759	-		72121054	1	no_errors	ENST00000425175	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72121054	A	G	72121054	3	3	208	1	0	0	0	0	1	0	0	0	14664	391	14	5	197	5	SLC4A4	4	72121054	Missense_Mutation	SNP	A	TCGA-RN-AAAQ-01A-21D-A38Z-09	71855898	72121054	119033222	12	17051											
COPS4	51138	genome.wustl.edu	37	chr4	83978560	83978560	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgatcttagcatcagcAggtaaacacgtaataattta	7	7	2	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr4:83978560A>T	ENST00000264389.2	+	6	849	c.714A>T	c.(712-714)gcA>gcT	p.A238A	COPS4_ENST00000503682.1_Splice_Site_p.A238A|COPS4_ENST00000511653.1_Splice_Site_p.A238A|COPS4_ENST00000509093.1_Splice_Site_p.A238A	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	238	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TAGCATCAGCAGGTAAACACG	0.348																																																	0								ENSG00000138663						67	66	66					4																	83978560		2203	4300	6503	COPS4	SO:0001630	splice_region_variant	0			-	HGNC	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4", "COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.715+1A>T	4.37:g.83978560A>T		Somatic	0	52	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Silent	SNP							pfam_PCI_dom,smart_PCI_dom	p.A238	ENST00000264389.2	37	c.714	CCDS3600.1	4																																																																																			-	NULL		0.348	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS4	protein_coding	OTTHUMT00000252643.1	A		-	Silent	83978560	1	no_errors	ENST00000264389	ensembl	human	known	74_37	silent	SNP	1.000	T	T	83978560	A	T	83978560	5	4	208	1	0	0	0	0	0	0	1	0	3737	202	7	5	736	5	COPS4	4	83978560	Splice_Site	SNP	A	TCGA-RN-AAAQ-01A-21D-A38Z-09	11857506	83978560	107175716	13	17052											
NR3C2	4306	genome.wustl.edu	37	chr4	149356399	149356399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaagattggtctctagcCgatcgtgataaagatattgt	11	5	1	3	rs146153919		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr4:149356399C>T	ENST00000358102.3	-	2	1976	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S	NR3C2_ENST00000355292.3_Silent_p.S538S|NR3C2_ENST00000512865.1_Silent_p.S538S|NR3C2_ENST00000511528.1_Silent_p.S538S|NR3C2_ENST00000344721.4_Silent_p.S538S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	538	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GGTCTCTAGCCGATCGTGATA	0.478																																					Melanoma(27;428 957 40335 51025 51111)												0								ENSG00000151623	C	,	0,4406		0,0,2203	117	109	111		1614,1614	-11	0	4	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NR3C2	NM_000901.4,NM_001166104.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	538/985,538/868	149356399	1,13005	2203	4300	6503	NR3C2	SO:0001819	synonymous_variant	0			-	HGNC	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1614G>A	4.37:g.149356399C>T		Somatic	0	87	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	84	26.32	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S538	ENST00000358102.3	37	c.1614	CCDS3772.1	4																																																																																			-	NULL		0.478	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	protein_coding	OTTHUMT00000364986.1	C		rs146153919		149356399	-1	no_errors	ENST00000355292	ensembl	human	known	74_37	silent	SNP	0.002	T	T	149356399	C	T	149356399	2	4	208	1	0	0	0	0	0	0	0	1	10633	639	23	1		1	NR3C2	4	149356399	Silent	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	65377839	149356399	41797877	14	17053											
NKD2	85409	genome.wustl.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-													agcaccaccaccaccacgagCaccaccaccaccaccaccac					rs3840989		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000382730.2_In_Frame_Del_p.P86del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																																	0								ENSG00000145506																																			NKD2	SO:0001651	inframe_deletion	0				HGNC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del	Somatic	0	25	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q96EK8|Q9BSN0	In_Frame_Del	DEL							pfscan_EF_hand_dom	p.H442in_frame_del	ENST00000296849.5	37	c.1315_1317	CCDS3859.1	5																																																																																			-	NULL		0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	protein_coding	OTTHUMT00000206720.2	CAC	NM_033120			1038449	1	no_errors	ENST00000296849	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	1038449	CAC	-	1038447	7	5	208	1	0	1	0	1	0	0	0	0	10444	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-RN-AAAQ-01A-21D-A38Z-09		1038447	179876813	15	17054											
C6	729	genome.wustl.edu	37	chr5	41172432	41172432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcctgacacagtgtttggCttcttcctcggttaaaccta	7	11	1	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr5:41172432C>A	ENST00000263413.3	-	9	1450	c.1186G>T	c.(1186-1188)Gcc>Tcc	p.A396S	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.A396S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	396	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGTGTTTGGCTTCTTCCTCG	0.423																																																	0								ENSG00000039537						168	144	152					5																	41172432		2203	4300	6503	C6	SO:0001583	missense	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1186G>T	5.37:g.41172432C>A	ENSP00000263413:p.Ala396Ser	Somatic	0	52	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	89	21.24		Missense_Mutation	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.A396S	ENST00000263413.3	37	c.1186	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	2.400	-0.337875	0.05278	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84146	-1.81;-1.81	4.89	-9.78	0.00496	Membrane attack complex component/perforin (MACPF) domain (3);	1.779850	0.02509	N	0.091324	T	0.64649	0.2617	N	0.05124	-0.11	0.19575	N	0.999967	B	0.02656	0.0	B	0.06405	0.002	T	0.59627	-0.7419	10	0.08599	T	0.76	3.9864	10.7087	0.45971	0.2925:0.5281:0.0:0.1794	.	396	P13671	CO6_HUMAN	S	396	ENSP00000338861:A396S;ENSP00000263413:A396S	ENSP00000263413:A396S	A	-	1	0	C6	41208189	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.520000	0.06252	-3.142000	0.00233	-1.117000	0.02048	GCC	-	pfam_MACPF,smart_MACPF		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	C		-		41172432	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	SNP	0.000	A	A	41172432	C	A	41172432	3	1	208	1	0	0	0	0	1	0	0	0	2317	797	28	3	1658	3	C6	5	41172432	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	40133985	41172432	139742828	16	17055											
RIPK1	8737	genome.wustl.edu	37	chr6	3105965	3105965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagggtctcccatgaccCttttgcacagcaaagacctt	8	14	1	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr6:3105965C>T	ENST00000259808.4	+	9	1554	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	RIPK1_ENST00000541791.1_Missense_Mutation_p.P373L|RIPK1_ENST00000380409.2_Missense_Mutation_p.P419L|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	419	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCCCATGACCCTTTTGCACAG	0.517																																																	0								ENSG00000137275						61	63	62					6																	3105965		2203	4300	6503	RIPK1	SO:0001583	missense	0			-	HGNC	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1256C>T	6.37:g.3105965C>T	ENSP00000259808:p.Pro419Leu	Somatic	0	29	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	9	59.09	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P419L	ENST00000259808.4	37	c.1256	CCDS4482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.743848|4.743848	0.89663|0.89663	.|.	.|.	ENSG00000137275|ENSG00000137275	ENST00000453483|ENST00000259808;ENST00000541791;ENST00000380409	.|T;T;T	.|0.79554	.|-1.28;-0.93;-1.28	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.051124	.|0.85682	.|D	.|0.000000	D|D	0.87704|0.87704	0.6244|0.6244	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.72075	.|0.976;0.928	D|D	0.88251|0.88251	0.2916|0.2916	6|10	0.42905|0.87932	T|D	0.14|0	-16.2055|-16.2055	19.6085|19.6085	0.95589|0.95589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;419	.|Q13546-2;Q13546	.|.;RIPK1_HUMAN	F|L	50|419;373;419	.|ENSP00000259808:P419L;ENSP00000442294:P373L;ENSP00000369773:P419L	ENSP00000415981:L50F|ENSP00000259808:P419L	L|P	+|+	1|2	0|0	RIPK1|RIPK1	3050964|3050964	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.006000|5.006000	0.63978|0.63978	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	CTT|CCT	-	NULL		0.517	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	protein_coding	OTTHUMT00000039659.2	C	NM_003804	-		3105965	1	no_errors	ENST00000259808	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3105965	C	T	3105965	3	4	208	1	0	0	0	0	1	0	0	0	13388	681	24	2	1286	2	RIPK1	6	3105965	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		3105965	168009102	17	17056											
TBPL1	9519	genome.wustl.edu	37	chr6	134301277	134301277	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccccaatggatgcagacaGtgatgttgcattggacattc	10	10	0	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr6:134301277G>C	ENST00000237264.4	+	2	289	c.14G>C	c.(13-15)aGt>aCt	p.S5T	TBPL1_ENST00000367871.1_Missense_Mutation_p.S5T	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	5					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GATGCAGACAGTGATGTTGCA	0.328																																																	0								ENSG00000028839						122	113	116					6																	134301277		2203	4300	6503	TBPL1	SO:0001583	missense	0			-	HGNC	AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.14G>C	6.37:g.134301277G>C	ENSP00000237264:p.Ser5Thr	Somatic	0	100	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	89	17.59	A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP							pfam_TBP,prints_TBP	p.S5T	ENST00000237264.4	37	c.14	CCDS5168.1	6	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117650	0.56505	.	.	ENSG00000028839	ENST00000416965;ENST00000457715;ENST00000367871;ENST00000237264;ENST00000367869	.	.	.	5.9	5.9	0.94986	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.037775	0.85682	D	0.000000	T	0.27524	0.0676	N	0.19112	0.55	0.46874	D	0.999235	B	0.31026	0.304	B	0.18871	0.023	T	0.11690	-1.0577	9	0.20046	T	0.44	-19.3454	19.2586	0.93957	0.0:0.0:1.0:0.0	.	5	P62380	TBPL1_HUMAN	T	5	.	ENSP00000237264:S5T	S	+	2	0	TBPL1	134342970	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.816000	0.75247	2.793000	0.96121	0.591000	0.81541	AGT	-	NULL		0.328	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL1	protein_coding	OTTHUMT00000042294.2	G		-		134301277	1	no_errors	ENST00000237264	ensembl	human	known	74_37	missense	SNP	1.000	C	C	134301277	G	C	134301277	3	2	208	1	0	0	0	0	1	0	0	0	15652	1029	36	4	16	4	TBPL1	6	134301277	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	131195312	134301277	36813790	18	17057											
SDK1	221935	genome.wustl.edu	37	chr7	4153058	4153058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtgagaccagcctgcGgcttcgctgggtggtgagtg	17	10	0	2	rs377301442		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr7:4153058G>A	ENST00000404826.2	+	24	3711	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R1191Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1191	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ACCAGCCTGCGGCTTCGCTGG	0.637																																																	0								ENSG00000146555	G	GLN/ARG	0,4406		0,0,2203	78	84	82		3572	5.2	1	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1191/2214	4153058	1,13005	2203	4300	6503	SDK1	SO:0001583	missense	0			-	HGNC	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.3572G>A	7.37:g.4153058G>A	ENSP00000385899:p.Arg1191Gln	Somatic	0	20	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1191Q	ENST00000404826.2	37	c.3572	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243833	0.58995	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56444	0.46;0.46	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220091	0.32357	N	0.006210	T	0.53578	0.1805	M	0.67397	2.05	0.40876	D	0.98395	B;B	0.24092	0.05;0.097	B;B	0.20184	0.014;0.028	T	0.52351	-0.8587	10	0.30078	T	0.28	.	18.8007	0.92015	0.0:0.0:1.0:0.0	.	1191;1191	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	1191	ENSP00000385899:R1191Q;ENSP00000374182:R1191Q	ENSP00000374182:R1191Q	R	+	2	0	SDK1	4119584	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.213000	0.72194	2.437000	0.82529	0.655000	0.94253	CGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	G	NM_152744	-		4153058	1	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4153058	G	A	4153058	3	1	208	1	0	0	0	0	1	0	0	0	13976	1116	39	1	3666	1	SDK1	7	4153058	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		4153058	154985605	19	17058											
COL28A1	340267	genome.wustl.edu	37	chr7	7571323	7571323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttaaatgtctgcaggtCcttccaggaagaaaaaggtg	11	8	1	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr7:7571323C>T	ENST00000399429.3	-	3	477	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	113	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTCTGCAGGTCCTTCCAGGAA	0.438																																																	0								ENSG00000215018						68	64	65					7																	7571323		1884	4121	6005	COL28A1	SO:0001583	missense	0			-	HGNC	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.337G>A	7.37:g.7571323C>T	ENSP00000382356:p.Asp113Asn	Somatic	0	47	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP							pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.D113N	ENST00000399429.3	37	c.337	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847931	0.51164	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	T	0.55760	0.5	4.2	3.32	0.38043	von Willebrand factor, type A (3);	0.162448	0.37955	U	0.001869	T	0.32823	0.0842	L	0.31926	0.97	0.27738	N	0.944584	B	0.29552	0.248	B	0.29524	0.103	T	0.26189	-1.0110	10	0.05436	T	0.98	-9.1901	7.7814	0.29066	0.0:0.7545:0.0:0.2455	.	113	Q2UY09	COSA1_HUMAN	N	113	ENSP00000382356:D113N	ENSP00000382347:D113N	D	-	1	0	COL28A1	7537848	0.985000	0.35326	0.999000	0.59377	0.991000	0.79684	1.905000	0.39878	1.140000	0.42260	0.655000	0.94253	GAC	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.438	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	protein_coding	OTTHUMT00000315899.1	C	NM_001037763	-		7571323	-1	no_errors	ENST00000399429	ensembl	human	known	74_37	missense	SNP	0.999	T	T	7571323	C	T	7571323	3	4	208	1	0	0	0	0	1	0	0	0	3688	855	30	2	3172	2	COL28A1	7	7571323	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	3418265	7571323	151567340	20	17059											
WBSCR17	64409	genome.wustl.edu	37	chr7	71036308	71036308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgttcgtggtcaacaGgaagttcttcggtgaaattg	12	8	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr7:71036308G>T	ENST00000333538.5	+	6	1635	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	334	Catalytic subdomain B.				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)				GTGGTCAACAGGAAGTTCTTC	0.502																																																	0								ENSG00000185274						219	206	211					7																	71036308		2203	4300	6503	WBSCR17	SO:0001583	missense	0			-	HGNC	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.1001G>T	7.37:g.71036308G>T	ENSP00000329654:p.Arg334Met	Somatic	0	96	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	87	17.14	Q8NFV9|Q9NTA8	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R334M	ENST00000333538.5	37	c.1001	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681073	0.88542	.	.	ENSG00000185274	ENST00000333538	T	0.69306	-0.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90790	0.4686	10	0.87932	D	0	.	15.5099	0.75772	0.0:0.0:1.0:0.0	.	334	Q6IS24	GLTL3_HUMAN	M	334	ENSP00000329654:R334M	ENSP00000329654:R334M	R	+	2	0	WBSCR17	70674244	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.459000	0.90367	2.689000	0.91719	0.637000	0.83480	AGG	-	NULL		0.502	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	G	NM_022479	-		71036308	1	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71036308	G	T	71036308	3	4	208	1	0	0	0	0	1	0	0	0	17271	1000	35	3	1023	3	WBSCR17	7	71036308	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	63464985	71036308	88102355	21	17060											
CPXM2	119587	genome.wustl.edu	37	chr10	125506534	125506534	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaatccccatcgttggCtgtgaaaaagaaaaccaggg	10	10	0	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr10:125506534C>T	ENST00000241305.3	-	14	2172		c.e14-1		CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCATCGTTGGCTGTGAAAAAG	0.552																																																	0								ENSG00000121898						119	128	125					10																	125506534		2203	4300	6503	CPXM2	SO:0001630	splice_region_variant	0			-	HGNC	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2018-1G>A	10.37:g.125506534C>T		Somatic	0	39	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B4E3Q2	Splice_Site	SNP							-	e14-1	ENST00000241305.3	37	c.2018-1	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009160	0.54361	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	4.95	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3701	0.60709	0.0:0.9241:0.0:0.0758	.	.	.	.	.	-1	.	.	.	-	.	.	CPXM2	125496524	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.645000	0.83430	1.307000	0.44944	-0.136000	0.14681	.	-	-		0.552	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	protein_coding	OTTHUMT00000050853.1	C	NM_198148	-	Intron	125506534	-1	no_errors	ENST00000241305	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	125506534	C	T	125506534	5	4	208	1	0	0	0	0	0	0	1	0	3840	811	28	2	257	2	CPXM2	10	125506534	Splice_Site	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		125506534	10028213	22	17061											
MYO7A	4647	genome.wustl.edu	37	chr11	76918448	76918448	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaaattgcagacaagGtgggtcctttgccaccttcg	10	10	1	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr11:76918448G>T	ENST00000409709.3	+	42	6128		c.e42+1		MYO7A_ENST00000458637.2_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000605744.1_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCAGACAAGGTGGGTCCTTT	0.562																																																	0								ENSG00000137474						36	39	38					11																	76918448		2015	4168	6183	MYO7A	SO:0001630	splice_region_variant	0			-	HGNC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5856+1G>T	11.37:g.76918448G>T		Somatic	0	41	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	SNP							-	e41+1	ENST00000409709.3	37	c.5856+1	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	19.34	3.808802	0.70797	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3515	0.90339	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO7A	76596096	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	9.324000	0.96373	2.326000	0.78906	0.550000	0.68814	.	-	-		0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	protein_coding	OTTHUMT00000328133.1	G	NM_000260	-	Intron	76918448	1	no_errors	ENST00000409709	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	76918448	G	T	76918448	5	4	208	1	0	0	0	0	0	0	1	0	10084	1275	44	3	6053	3	MYO7A	11	76918448	Splice_Site	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		76918448	58088068	23	17062											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18499601	18499601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagaaggtaacaactgaaCtatccacatccatctaccag	6	11	1	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr12:18499601C>A	ENST00000266497.5	+	10	1494	c.1456C>A	c.(1456-1458)Cta>Ata	p.L486I	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.L486I|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.L486I|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.L486I			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	486	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACAACTGAACTATCCACATC	0.383																																																	0								ENSG00000139144						165	167	166					12																	18499601		1915	4124	6039	PIK3C2G	SO:0001583	missense	0			-	HGNC	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1456C>A	12.37:g.18499601C>A	ENSP00000266497:p.Leu486Ile	Somatic	0	34	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	65	10.96	A1L3U0	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L486I	ENST00000266497.5	37	c.1456	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810711	0.50421	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.74737	0.27;-0.87;-0.87;-0.59	3.98	2.06	0.26882	Phosphoinositide 3-kinase, C2 (1);	0.981870	0.08291	N	0.968395	D	0.83622	0.5294	M	0.76328	2.33	0.38645	D	0.951703	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.994	T	0.76228	-0.3036	10	0.35671	T	0.21	-10.4744	7.4208	0.27071	0.0:0.7804:0.0:0.2196	.	485;486;486	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	I	486	ENSP00000443850:L486I;ENSP00000404845:L486I;ENSP00000266497:L486I;ENSP00000445381:L486I	ENSP00000266497:L486I	L	+	1	2	PIK3C2G	18390868	1.000000	0.71417	0.872000	0.34217	0.768000	0.43524	2.923000	0.48868	0.579000	0.29504	-0.300000	0.09419	CTA	-	NULL		0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	C	NM_004570	-		18499601	1	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	SNP	0.998	A	A	18499601	C	A	18499601	3	1	208	1	0	0	0	0	1	0	0	0	11913	564	20	3	1494	3	PIK3C2G	12	18499601	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		18499601	115352294	24	17063											
CCDC41	51134	genome.wustl.edu	37	chr12	94772610	94772610	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcagccaactgccgcAcctgtattctttgggcattt	8	13	2	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr12:94772610A>T	ENST00000397809.5	-	7	1307	c.758T>A	c.(757-759)gTg>gAg	p.V253E	CCDC41_ENST00000339839.5_Missense_Mutation_p.V253E|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.V253E|CCDC41_ENST00000397807.2_Missense_Mutation_p.V220E	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		245					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CAACTGCCGCACCTGTATTCT	0.423																																																	0								ENSG00000173588						122	121	121					12																	94772610		1883	4127	6010	CCDC41	SO:0001583	missense	0			-	HGNC																												ENST00000397809.5:c.758T>A	12.37:g.94772610A>T	ENSP00000380911:p.Val253Glu	Somatic	0	65	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	48	18.64	A4FVB1|Q08AP1	Missense_Mutation	SNP							NULL	p.V253E	ENST00000397809.5	37	c.758	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627075	0.66901	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.69	5.69	0.88448	.	.	.	.	.	T	0.22820	0.0551	M	0.61703	1.905	0.42729	D	0.993705	D;D;D	0.57571	0.98;0.958;0.96	P;P;P	0.51229	0.663;0.587;0.663	T	0.11665	-1.0578	9	0.02654	T	1	-10.0299	11.8105	0.52179	0.9296:0.0:0.0704:0.0	.	253;220;245	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	E	253;253;220;253	ENSP00000344655:V253E;ENSP00000380911:V253E;ENSP00000380909:V220E;ENSP00000448913:V253E	ENSP00000344655:V253E	V	-	2	0	CCDC41	93296741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.094000	0.64523	2.173000	0.68751	0.477000	0.44152	GTG	-	NULL		0.423	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	protein_coding	OTTHUMT00000408147.3	A		-		94772610	-1	no_errors	ENST00000339839	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94772610	A	T	94772610	3	4	208	1	0	0	0	0	1	0	0	0	2815	159	6	5	1391	5	CCDC41	12	94772610	Missense_Mutation	SNP	A	TCGA-RN-AAAQ-01A-21D-A38Z-09	76273009	94772610	39079285	25	17064											
BTBD11	121551	genome.wustl.edu	37	chr12	107974745	107974745	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtcaccggtgcggtccgGatgtctccaaaggctctccc	14	14	3	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr12:107974745G>A	ENST00000280758.5	+	4	2018				BTBD11_ENST00000490090.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.G21E|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTGCGGTCCGGATGTCTCCAA	0.617																																																	0								ENSG00000151136						14	18	17					12																	107974745		1717	3776	5493	BTBD11	SO:0001627	intron_variant	0			-	HGNC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1491-184G>A	12.37:g.107974745G>A		Somatic	0	56	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	58	25.64	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.G21E	ENST00000280758.5	37	c.62	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716282	0.48622	.	.	ENSG00000151136	ENST00000357167	T	0.42513	0.97	4.18	4.18	0.49190	.	.	.	.	.	T	0.44932	0.1317	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.41610	-0.9499	9	0.40728	T	0.16	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	21	E9PHS4	.	E	21	ENSP00000349690:G21E	ENSP00000349690:G21E	G	+	2	0	BTBD11	106498875	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	4.446000	0.60014	2.265000	0.75225	0.491000	0.48974	GGA	-	NULL		0.617	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	protein_coding	OTTHUMT00000318003.1	G	NM_152322	-		107974745	1	no_errors	ENST00000357167	ensembl	human	known	74_37	missense	SNP	0.998	A	A	107974745	G	A	107974745	1	1	208	0	1	0	0	0	0	0	0	0	1541	1174	41	2		2	BTBD11	12	107974745	Intron	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	13202135	107974745	25877150	26	17065											
SRRM4	84530	genome.wustl.edu	37	chr12	119554776	119554778	+	In_Frame_Del	DEL	AAG	AAG	-													gcccatcgcctgtcaagaaaAagaagaagaaaagttccaag							TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr12:119554776_119554778delAAG	ENST00000267260.4	+	4	788_790	c.400_402delAAG	c.(400-402)aagdel	p.K137del	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	137	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTCAAGAAAAAGAAGAAGAAAA	0.488																																																	0								ENSG00000139767																																			SRRM4	SO:0001651	inframe_deletion	0				HGNC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.400_402delAAG	12.37:g.119554782_119554784delAAG	ENSP00000267260:p.Lys137del	Somatic	0	45	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	59	11.94	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	In_Frame_Del	DEL							NULL	p.K137in_frame_del	ENST00000267260.4	37	c.400_402	CCDS44994.1	12																																																																																			-	NULL		0.488	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	protein_coding	OTTHUMT00000401640.2	AAG	NM_194286			119554778	1	no_errors	ENST00000267260	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	119554778	AAG	-	119554776	7	5	208	1	0	1	0	1	0	0	0	0	15178	15	1	0	414	0	SRRM4	12	119554776	In_Frame_Del	DEL	AAG	TCGA-RN-AAAQ-01A-21D-A38Z-09	11580031	119554776	14297119	27	17066											
HTR2A	3356	genome.wustl.edu	37	chr13	47409498	47409498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccctatggatcgacCgctggaagagcttttctgaa	11	11	1	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr13:47409498C>T	ENST00000378688.4	-	3	1021	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	HTR2A_ENST00000542664.1_Missense_Mutation_p.R297Q|HTR2A_ENST00000543956.1_Missense_Mutation_p.R213Q			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	297					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGGATCGACCGCTGGAAGAG	0.507																																																	0								ENSG00000102468						91	79	83					13																	47409498		2203	4300	6503	HTR2A	SO:0001583	missense	0			-	HGNC	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.890G>A	13.37:g.47409498C>T	ENSP00000367959:p.Arg297Gln	Somatic	0	26	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R297Q	ENST00000378688.4	37	c.890	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109251	0.56398	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.61859	0.36;0.07;0.36	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.124540	0.53938	D	0.000048	T	0.48077	0.1480	L	0.39514	1.22	0.44500	D	0.997443	P;P	0.39601	0.476;0.68	B;B	0.34590	0.186;0.121	T	0.40327	-0.9569	10	0.13470	T	0.59	.	19.3632	0.94451	0.0:1.0:0.0:0.0	.	213;297	F5GWE8;P28223	.;5HT2A_HUMAN	Q	297;213;297	ENSP00000367959:R297Q;ENSP00000441861:R213Q;ENSP00000437737:R297Q	ENSP00000367959:R297Q	R	-	2	0	HTR2A	46307499	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.483000	0.81158	2.894000	0.99253	0.591000	0.81541	CGG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt		0.507	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	protein_coding	OTTHUMT00000044835.3	C	NM_000621	-		47409498	-1	no_errors	ENST00000378688	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47409498	C	T	47409498	3	4	208	1	0	0	0	0	1	0	0	0	7443	652	23	1	529	1	HTR2A	13	47409498	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		47409498	67760380	28	17067											
SOX1	6656	genome.wustl.edu	37	chr13	112722436	112722441	+	In_Frame_Del	DEL	TGGGCG	TGGGCG	-													cggcggcgcggctgtggccaTgggcgtgggcgtgggcgtgg					rs554658976	byFrequency	TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	TGGGCG	TGGGCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr13:112722436_112722441delTGGGCG	ENST00000330949.1	+	1	524_529	c.464_469delTGGGCG	c.(463-471)atgggcgtg>atg	p.GV160del		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	160					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		gcTGTGGCCATGGGCGTGGGCGTGGG	0.786														537	0.107228	0.1195	0.0692	5008	,	,		2991	0.0794		0.0895	False		,,,				2504	0.1646																0								ENSG00000182968			29,551		13,3,274						-1	1			2	50,1202		20,10,596	no	coding	SOX1	NM_005986.2		33,13,870	A1A1,A1R,RR		3.9936,5.0,4.3122				79,1753				SOX1	SO:0001651	inframe_deletion	0				HGNC		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.464_469delTGGGCG	13.37:g.112722442_112722447delTGGGCG	ENSP00000330218:p.Gly160_Val161del	Somatic					0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5W0Q1	In_Frame_Del	DEL							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.VG159in_frame_del	ENST00000330949.1	37	c.464_469	CCDS9523.1	13																																																																																			-	pfam_TF_SOX		0.786	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	protein_coding	OTTHUMT00000045817.3	TGGGCG	NM_005986			112722441	1	no_errors	ENST00000330949	ensembl	human	known	74_37	in_frame_del	DEL	0.985:0.996:1.000:1.000:0.975:0.961	-	-	112722441	TGGGCG	-	112722436	7	5	208	1	0	1	0	1	0	0	0	0	14948	1464	51	0	466	0	SOX1	13	112722436	In_Frame_Del	DEL	TGGGCG	TCGA-RN-AAAQ-01A-21D-A38Z-09	65312938	112722436	2447442	29	17068											
PRKD1	5587	genome.wustl.edu	37	chr14	30046656	30046656	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgcaaatctaaccaggtctGatagtcctgaagaagaaatt	8	8	2	4			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr14:30046656G>C	ENST00000331968.5	-	18	2756	c.2527C>G	c.(2527-2529)Cag>Gag	p.Q843E	PRKD1_ENST00000415220.2_Missense_Mutation_p.Q851E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	843					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)		AACCAGGTCTGATAGTCCTGA	0.428																																																	0								ENSG00000184304						80	76	77					14																	30046656		2203	4300	6503	PRKD1	SO:0001583	missense	0			-	HGNC		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.2527C>G	14.37:g.30046656G>C	ENSP00000333568:p.Gln843Glu	Somatic	0	30	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A6NL64|B2RAF6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.Q843E	ENST00000331968.5	37	c.2527	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966780	0.53507	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82344	-1.6;-1.6	6.17	5.25	0.73442	Protein kinase-like domain (1);	0.067021	0.64402	D	0.000016	T	0.81692	0.4876	L	0.60455	1.87	0.80722	D	1	B	0.13145	0.007	B	0.16722	0.016	T	0.76974	-0.2760	10	0.49607	T	0.09	-24.6786	17.6654	0.88201	0.0:0.1224:0.8776:0.0	.	843	Q15139	KPCD1_HUMAN	E	843;851	ENSP00000333568:Q843E;ENSP00000390535:Q851E	ENSP00000333568:Q843E	Q	-	1	0	PRKD1	29116407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.995000	0.88328	2.941000	0.99782	0.655000	0.94253	CAG	-	superfamily_Kinase-like_dom		0.428	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742	-		30046656	-1	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	SNP	1.000	C	C	30046656	G	C	30046656	3	2	208	1	0	0	0	0	1	0	0	0	12523	1299	45	4	215	4	PRKD1	14	30046656	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		30046656	77302884	30	17069											
KLHL28	54813	genome.wustl.edu	37	chr14	45414684	45414684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccaaataaaggtcacGgcaaccatatgtttctgcaa	9	10	2	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr14:45414684G>A	ENST00000396128.4	-	2	567	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	KLHL28_ENST00000355081.2_Missense_Mutation_p.R164C	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	150										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAAAGGTCACGGCAACCATAT	0.383																																																	0								ENSG00000179454						62	62	62					14																	45414684		2203	4300	6503	KLHL28	SO:0001583	missense	0			-	HGNC	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.448C>T	14.37:g.45414684G>A	ENSP00000379434:p.Arg150Cys	Somatic	0	63	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	44	34.33	Q0VAL5	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R150C	ENST00000396128.4	37	c.448	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011052	0.54361	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500	T;T;T	0.76578	-0.41;-0.41;-1.03	5.7	5.7	0.88788	BTB/Kelch-associated (2);	0.082747	0.85682	D	0.000000	T	0.73001	0.3531	L	0.39467	1.215	0.45087	D	0.998109	B;P	0.48640	0.001;0.913	B;B	0.40825	0.0;0.341	T	0.74976	-0.3480	10	0.46703	T	0.11	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	150;150	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	C	150;164;150	ENSP00000379434:R150C;ENSP00000347193:R164C;ENSP00000452061:R150C	ENSP00000347193:R164C	R	-	1	0	KLHL28	44484434	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.415000	0.80131	2.696000	0.92011	0.655000	0.94253	CGT	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.383	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	protein_coding	OTTHUMT00000276790.3	G		-		45414684	-1	no_errors	ENST00000396128	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45414684	G	A	45414684	3	1	208	1	0	0	0	0	1	0	0	0	8384	1116	39	1	1283	1	KLHL28	14	45414684	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	15368028	45414684	61934856	31	17070											
FLRT2	23768	genome.wustl.edu	37	chr14	86088593	86088593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaattcgctgtcccacccTcctcccgatctcccaggtac	6	19	1	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr14:86088593T>C	ENST00000330753.4	+	2	1502	c.735T>C	c.(733-735)ccT>ccC	p.P245P	FLRT2_ENST00000554746.1_Silent_p.P245P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	245					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)		TGTCCCACCCTCCTCCCGATC	0.512																																																	0								ENSG00000185070						84	83	84					14																	86088593		2203	4300	6503	FLRT2	SO:0001819	synonymous_variant	0			-	HGNC	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.735T>C	14.37:g.86088593T>C		Somatic	0	25	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	A0AV84|B7ZLP3	Silent	SNP							pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.P245	ENST00000330753.4	37	c.735	CCDS9877.1	14																																																																																			-	NULL		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	protein_coding	OTTHUMT00000413193.1	T		-		86088593	1	no_errors	ENST00000330753	ensembl	human	known	74_37	silent	SNP	0.002	C	C	86088593	T	C	86088593	2	2	208	1	0	0	0	0	0	0	0	1	5941	1538	54	5		5	FLRT2	14	86088593	Silent	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09	40673909	86088593	21260947	32	17071											
SEMA6D	80031	genome.wustl.edu	37	chr15	48055236	48055236	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacactttcttcatgccataGaatatggaaactatgtctat	5	9	3	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr15:48055236G>T	ENST00000316364.5	+	9	1121	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.E228*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.E228*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	228	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)		TCATGCCATAGAATATGGAAA	0.363																																																	0								ENSG00000137872						79	75	76					15																	48055236		2198	4296	6494	SEMA6D	SO:0001587	stop_gained	0			-	HGNC	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.682G>T	15.37:g.48055236G>T	ENSP00000324857:p.Glu228*	Somatic	0	29	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Nonsense_Mutation	SNP							pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E228*	ENST00000316364.5	37	c.682	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	41	9.023450	0.99040	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	.	.	.	5.8	5.8	0.92144	.	0.044796	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000324857:E228X	E	+	1	0	SEMA6D	45842528	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	GAA	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.363	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	G	NM_024966	-		48055236	1	no_errors	ENST00000316364	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48055236	G	T	48055236	4	4	208	1	0	0	0	0	0	1	0	0	14050	943	33	3	712	3	SEMA6D	15	48055236	Nonsense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		48055236	54476156	33	17072											
METTL9	51108	genome.wustl.edu	37	chr16	21629371	21629371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttctgaaactatgatatGgcagcttcagaaaaagaaat	8	6	2	4			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr16:21629371G>T	ENST00000358154.3	+	3	800	c.542G>T	c.(541-543)tGg>tTg	p.W181L	METTL9_ENST00000396014.4_Missense_Mutation_p.W181L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	181										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ACTATGATATGGCAGCTTCAG	0.318																																																	0								ENSG00000197006						67	70	69					16																	21629371		2199	4300	6499	METTL9	SO:0001583	missense	0			-	HGNC	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.542G>T	16.37:g.21629371G>T	ENSP00000350874:p.Trp181Leu	Somatic	0	119	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	122	12.86	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP							pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11	p.W181L	ENST00000358154.3	37	c.542	CCDS10598.2	16	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881813	0.91740	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.78314	0.991;0.918	T	0.74124	-0.3766	9	0.37606	T	0.19	-5.2864	18.3732	0.90420	0.0:0.0:1.0:0.0	.	181;181	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	L	181;181;145	.	ENSP00000350874:W181L	W	+	2	0	METTL9	21536872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.500000	0.97977	2.941000	0.99782	0.655000	0.94253	TGG	-	pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11		0.318	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL9	protein_coding	OTTHUMT00000254465.1	G	NM_016025	-		21629371	1	no_errors	ENST00000358154	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21629371	G	T	21629371	3	4	208	1	0	0	0	0	1	0	0	0	9510	1357	47	3	552	3	METTL9	16	21629371	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		21629371	68725382	34	17073											
IL21R	50615	genome.wustl.edu	37	chr16	27448886	27448886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacaatgccacgcatgCcacctacacctgccacatgg	8	18	0	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr16:27448886C>T	ENST00000337929.3	+	4	703	c.230C>T	c.(229-231)gCc>gTc	p.A77V	IL21R_ENST00000564089.1_Missense_Mutation_p.A77V|IL21R_ENST00000395754.4_Missense_Mutation_p.A77V|IL21R_ENST00000395755.1_Missense_Mutation_p.A77V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	77	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCCACGCATGCCACCTACACC	0.562			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0								ENSG00000103522						143	108	120					16																	27448886		2197	4300	6497	IL21R	SO:0001583	missense	0			-	HGNC	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.230C>T	16.37:g.27448886C>T	ENSP00000338010:p.Ala77Val	Somatic	0	56	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP							superfamily_Fibronectin_type3	p.A77V	ENST00000337929.3	37	c.230	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.039581	0.00402	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.94650	-3.48;-3.48;-3.48	4.65	0.333	0.15943	Fibronectin, type III (1);	2.642770	0.01193	N	0.007374	D	0.89378	0.6698	L	0.27053	0.805	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.77501	-0.2564	10	0.17369	T	0.5	-0.7133	7.3116	0.26477	0.0:0.5763:0.0:0.4237	.	77	Q9HBE5	IL21R_HUMAN	V	77	ENSP00000338010:A77V;ENSP00000379104:A77V;ENSP00000379103:A77V	ENSP00000338010:A77V	A	+	2	0	IL21R	27356387	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.939000	0.28978	0.128000	0.18479	0.650000	0.86243	GCC	-	superfamily_Fibronectin_type3		0.562	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	protein_coding	OTTHUMT00000254578.2	C	NM_181078	-		27448886	1	no_errors	ENST00000337929	ensembl	human	known	74_37	missense	SNP	0.000	T	T	27448886	C	T	27448886	3	4	208	1	0	0	0	0	1	0	0	0	7673	739	26	2	240	2	IL21R	16	27448886	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	5819515	27448886	62905867	35	17074											
NLGN2	57555	genome.wustl.edu	37	chr17	7320563	7320563	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgccaccctgcctccCgagcccgagcccgagcccgg	11	23	0	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr17:7320563C>A	ENST00000302926.2	+	7	2026	c.1953C>A	c.(1951-1953)ccC>ccA	p.P651P	RP11-104H15.7_ENST00000575310.1_RNA|NLGN2_ENST00000575301.1_Silent_p.P651P	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	651					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCCTGCCTCCCGAGCCCGAGC	0.776																																																	0								ENSG00000169992						6	6	6					17																	7320563		2096	4110	6206	NLGN2	SO:0001819	synonymous_variant	0			-	HGNC	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1953C>A	17.37:g.7320563C>A		Somatic	0	33	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q9P2I1	Silent	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P651	ENST00000302926.2	37	c.1953	CCDS11103.1	17																																																																																			-	NULL		0.776	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	protein_coding	OTTHUMT00000226941.2	C	NM_020795	-		7320563	1	no_errors	ENST00000302926	ensembl	human	known	74_37	silent	SNP	0.121	A	A	7320563	C	A	7320563	2	1	208	1	0	0	0	0	0	0	0	1	10464	639	23	3		3	NLGN2	17	7320563	Silent	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		7320563	73874647	36	17075											
PER1	5187	genome.wustl.edu	37	chr17	8048212	8048212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagccccactggacggTaggcgtctggggctgggtca	17	11	3	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr17:8048212T>C	ENST00000317276.4	-	18	2555	c.2318A>G	c.(2317-2319)tAc>tGc	p.Y773C	PER1_ENST00000354903.5_Missense_Mutation_p.Y757C|PER1_ENST00000581082.1_Missense_Mutation_p.Y753C|PER1_ENST00000578089.1_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	773	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|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)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACTGGACGGTAGGCGTctgg	0.672			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								ENSG00000179094						23	19	21					17																	8048212		2202	4297	6499	PER1	SO:0001583	missense	0			-	HGNC	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2318A>G	17.37:g.8048212T>C	ENSP00000314420:p.Tyr773Cys	Somatic	0	78	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	20.00	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP							pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.Y773C	ENST00000317276.4	37	c.2318	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471206	0.63625	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.37915	2.56;1.17	5.38	5.38	0.77491	.	0.440302	0.23832	N	0.044131	T	0.57504	0.2058	M	0.72894	2.215	0.43118	D	0.994834	D;D	0.76494	0.997;0.999	P;D	0.79784	0.783;0.993	T	0.60895	-0.7172	10	0.59425	D	0.04	-16.9496	11.7859	0.52043	0.0:0.0:0.0:1.0	.	757;773	B4DI49;O15534	.;PER1_HUMAN	C	773;757	ENSP00000314420:Y773C;ENSP00000346979:Y757C	ENSP00000314420:Y773C	Y	-	2	0	PER1	7988937	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.711000	0.37930	2.052000	0.61016	0.533000	0.62120	TAC	-	NULL		0.672	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	protein_coding	OTTHUMT00000441481.2	T		-		8048212	-1	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	SNP	1.000	C	C	8048212	T	C	8048212	3	2	208	1	0	0	0	0	1	0	0	0	11731	1638	57	5	1578	5	PER1	17	8048212	Missense_Mutation	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09	727649	8048212	73146998	37	17076											
KIAA0802	23255	genome.wustl.edu	37	chr18	8825190	8825190	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccgggagacaccaagGgaggccctccagaacccatg	14	14	0	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr18:8825190G>T	ENST00000306329.11	+	13	4639	c.4639G>T	c.(4639-4641)Gga>Tga	p.G1547*	SOGA2_ENST00000517570.1_Nonsense_Mutation_p.G1187*|SOGA2_ENST00000359865.3_Nonsense_Mutation_p.G1228*|SOGA2_ENST00000306285.7_Nonsense_Mutation_p.G553*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.G1187*|SOGA2_ENST00000518815.1_Nonsense_Mutation_p.G553*																							AGACACCAAGGGAGGCCCTCC	0.687																																																	0								ENSG00000168502						18	21	20					18																	8825190		2194	4291	6485	SOGA2	SO:0001587	stop_gained	0			-	HGNC																												ENST00000306329.11:c.4639G>T	18.37:g.8825190G>T	ENSP00000305027:p.Gly1547*	Somatic	0	69	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	123	18.00		Nonsense_Mutation	SNP							pfam_SOGA	p.G1228*	ENST00000306329.11	37	c.3682		18	.	.	.	.	.	.	.	.	.	.	G	37	6.315699	0.97467	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	.	.	.	5.24	4.36	0.52297	.	0.000000	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-31.8832	8.6938	0.34282	0.0764:0.0:0.7737:0.15	.	.	.	.	X	1249;1187;1228;1187;553	.	ENSP00000303670:G553X	G	+	1	0	CCDC165	8815190	1.000000	0.71417	0.196000	0.23383	0.846000	0.48090	5.465000	0.66725	1.208000	0.43306	0.655000	0.94253	GGA	-	NULL		0.687	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	protein_coding	OTTHUMT00000444141.1	G		-		8825190	1	no_errors	ENST00000359865	ensembl	human	known	74_37	nonsense	SNP	0.992	T	T	8825190	G	T	8825190	4	4	208	1	0	0	0	0	0	1	0	0	8196	1233	43	3	3732	3	KIAA0802	18	8825190	Nonsense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		8825190	69252058	38	17077											
TJP3	27134	genome.wustl.edu	37	chr19	3731993	3731993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattacagattcgggcctggCtgcccggcaccgtgggctgc	14	14	0	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:3731993C>A	ENST00000541714.2	+	6	1136	c.674C>A	c.(673-675)gCt>gAt	p.A225D	TJP3_ENST00000539908.2_Missense_Mutation_p.A189D|TJP3_ENST00000382008.3_Missense_Mutation_p.A225D|TJP3_ENST00000262968.9_Missense_Mutation_p.A244D|TJP3_ENST00000589378.1_Missense_Mutation_p.A234D|TJP3_ENST00000587686.1_Missense_Mutation_p.A244D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	225	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCCTGGCTGCCCGGCAC	0.597																																																	0								ENSG00000105289						47	43	44					19																	3731993		2203	4300	6503	TJP3	SO:0001583	missense	0			-	HGNC	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.674C>A	19.37:g.3731993C>A	ENSP00000439278:p.Ala225Asp	Somatic	0	45	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP							pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens	p.A244D	ENST00000541714.2	37	c.731	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191248	0.58017	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.37	4.37	0.52481	PDZ/DHR/GLGF (4);	0.127275	0.51477	D	0.000092	D	0.89632	0.6771	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.92245	0.5804	10	0.56958	D	0.05	.	16.0665	0.80887	0.0:1.0:0.0:0.0	.	244;244;225;225	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	D	225;189;225;244	ENSP00000439278:A225D;ENSP00000439991:A189D;ENSP00000371438:A225D;ENSP00000262968:A244D	ENSP00000262968:A244D	A	+	2	0	TJP3	3682993	1.000000	0.71417	0.957000	0.39632	0.076000	0.17211	7.166000	0.77553	2.257000	0.74773	0.313000	0.20887	GCT	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	protein_coding	OTTHUMT00000453434.1	C		-		3731993	1	no_errors	ENST00000262968	ensembl	human	known	74_37	missense	SNP	0.998	A	A	3731993	C	A	3731993	3	1	208	1	0	0	0	0	1	0	0	0	15938	797	28	3	749	3	TJP3	19	3731993	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		3731993	55396990	39	17078											
CHAF1A	10036	genome.wustl.edu	37	chr19	4428833	4428833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacctcaaaggccggcagcCcctgaggtccggacccacgc	12	17	1	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:4428833C>A	ENST00000301280.5	+	8	1651	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	517					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGGCAGCCCCTGAGGTCC	0.592								Chromatin Structure																																									0								ENSG00000167670						37	41	40					19																	4428833		2203	4300	6503	CHAF1A	SO:0001583	missense	0			-	HGNC	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1550C>A	19.37:g.4428833C>A	ENSP00000301280:p.Pro517His	Somatic	0	13	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP							pfam_CAF1A	p.P517H	ENST00000301280.5	37	c.1550	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642632	0.67244	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.17854	2.25	5.24	5.24	0.73138	.	.	.	.	.	T	0.42630	0.1211	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33420	-0.9869	9	0.87932	D	0	-29.7216	17.7889	0.88547	0.0:1.0:0.0:0.0	.	517	Q13111	CAF1A_HUMAN	H	517	ENSP00000301280:P517H	ENSP00000301280:P517H	P	+	2	0	CHAF1A	4379833	1.000000	0.71417	0.878000	0.34440	0.222000	0.24845	5.043000	0.64208	2.433000	0.82419	0.555000	0.69702	CCC	-	NULL		0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	protein_coding	OTTHUMT00000458310.2	C	NM_005483	-		4428833	1	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4428833	C	A	4428833	3	1	208	1	0	0	0	0	1	0	0	0	3313	623	22	3	1580	3	CHAF1A	19	4428833	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	696840	4428833	54700150	40	17079											
ZNF443	10224	genome.wustl.edu	37	chr19	12542630	12542630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaactctgatgtaacaaTtaagggatgaatgacccatg	8	9	1	3			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:12542630T>C	ENST00000301547.5	-	4	553	c.356A>G	c.(355-357)aAt>aGt	p.N119S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	119					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GATGTAACAATTAAGGGATGA	0.433																																																	0								ENSG00000180855						137	119	125					19																	12542630		2203	4300	6503	ZNF443	SO:0001583	missense	0			-	HGNC	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.356A>G	19.37:g.12542630T>C	ENSP00000301547:p.Asn119Ser	Somatic	0	77	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	30	36.17		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N119S	ENST00000301547.5	37	c.356	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	T	6.268	0.417547	0.11870	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07908	3.15	1.37	-1.12	0.09808	.	.	.	.	.	T	0.06096	0.0158	L	0.41710	1.295	0.09310	N	1	P	0.51147	0.942	P	0.44897	0.463	T	0.24261	-1.0165	9	0.08837	T	0.75	.	3.7012	0.08383	0.0:0.1497:0.221:0.6292	.	119	Q9Y2A4	ZN443_HUMAN	S	119	ENSP00000301547:N119S	ENSP00000301547:N119S	N	-	2	0	ZNF443	12403630	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.609000	0.05635	-0.408000	0.07565	0.378000	0.23410	AAT	-	NULL		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	protein_coding	OTTHUMT00000344084.1	T	NM_005815	-		12542630	-1	no_errors	ENST00000301547	ensembl	human	known	74_37	missense	SNP	0.001	C	C	12542630	T	C	12542630	3	2	208	1	0	0	0	0	1	0	0	0	17923	1493	52	5	1663	5	ZNF443	19	12542630	Missense_Mutation	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09	8113797	12542630	46586353	41	17080											
ANKLE1	126549	genome.wustl.edu	37	chr19	17396619	17396619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgggaggcgtgtattgtgGaagccctaggtgggtgcctg	18	8	0	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:17396619G>A	ENST00000394458.3	+	8	1942	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Intron|ANKLE1_ENST00000404085.1_Missense_Mutation_p.E552K|ANKLE1_ENST00000594072.1_Missense_Mutation_p.E519K	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	556	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GTGTATTGTGGAAGCCCTAGG	0.527																																																	0								ENSG00000160117						81	70	74					19																	17396619		2203	4300	6503	ANKLE1	SO:0001583	missense	0			-	HGNC	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1666G>A	19.37:g.17396619G>A	ENSP00000377971:p.Glu556Lys	Somatic	0	52	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	A8VU82|Q8N8J8	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom	p.E556K	ENST00000394458.3	37	c.1666	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023019	0.75275	.	.	ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458	T	0.73363	-0.74	5.19	5.19	0.71726	.	0.192252	0.43260	D	0.000600	T	0.73450	0.3588	L	0.54323	1.7	0.80722	D	1	P;P;P	0.44195	0.828;0.501;0.651	B;B;B	0.42771	0.397;0.054;0.165	T	0.77918	-0.2408	10	0.72032	D	0.01	.	16.1999	0.82063	0.0:0.0:1.0:0.0	.	516;556;519	Q8NAG6-1;Q8NAG6;A0JLW0	.;ANKL1_HUMAN;.	K	556;552;519	ENSP00000384008:E552K	ENSP00000377971:E519K	E	+	1	0	ANKLE1	17257619	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	8.848000	0.92172	2.424000	0.82194	0.491000	0.48974	GAA	-	NULL		0.527	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	protein_coding	OTTHUMT00000325392.2	G	NM_152363	-		17396619	1	no_errors	ENST00000394458	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17396619	G	A	17396619	3	1	208	1	0	0	0	0	1	0	0	0	632	1175	41	2	1696	2	ANKLE1	19	17396619	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	4853989	17396619	41732364	42	17081											
NCAN	1463	genome.wustl.edu	37	chr19	19349080	19349080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaccgagggctgtgaccGcggctggcataagttccagg	15	11	0	2	rs564014772		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:19349080G>A	ENST00000252575.6	+	11	3368	c.3269G>A	c.(3268-3270)cGc>cAc	p.R1090H	NCAN_ENST00000538881.1_Missense_Mutation_p.R541H	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1090	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCTGTGACCGCGGCTGGCAT	0.662													G|||	1	0.000199681	0	0	5008	,	,		16299	0		0	False		,,,				2504	0.001																0								ENSG00000130287						52	54	53					19																	19349080		2203	4300	6503	NCAN	SO:0001583	missense	0			-	HGNC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3269G>A	19.37:g.19349080G>A	ENSP00000252575:p.Arg1090His	Somatic	0	98	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	75	14.77	Q9UPK6	Missense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.R1090H	ENST00000252575.6	37	c.3269	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898454	0.02472	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.17213	2.29;2.29	4.75	-0.177	0.13307	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.395872	0.18712	N	0.133272	T	0.06050	0.0157	N	0.04320	-0.23	0.28245	N	0.925504	B;B	0.24768	0.111;0.014	B;B	0.14578	0.011;0.004	T	0.33854	-0.9852	10	0.27082	T	0.32	.	7.3008	0.26420	0.4445:0.0:0.5555:0.0	.	1104;1090	Q4LE67;O14594	.;NCAN_HUMAN	H	1104;1090;541	ENSP00000252575:R1090H;ENSP00000442202:R541H	ENSP00000252575:R1090H	R	+	2	0	NCAN	19210080	0.716000	0.27956	0.266000	0.24541	0.645000	0.38454	1.442000	0.35046	0.160000	0.19432	0.561000	0.74099	CGC	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII		0.662	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	protein_coding	OTTHUMT00000460111.2	G	NM_004386	-		19349080	1	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	SNP	0.428	A	A	19349080	G	A	19349080	3	1	208	1	0	0	0	0	1	0	0	0	10206	1087	38	1	3307	1	NCAN	19	19349080	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	1952461	19349080	39779903	43	17082											
CHST8	64377	genome.wustl.edu	37	chr19	34263521	34263521	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacaagtttgagcaccccaaCagctactatcacccggtctt	7	14	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:34263521C>G	ENST00000262622.4	+	4	1586	c.828C>G	c.(826-828)aaC>aaG	p.N276K	CHST8_ENST00000434302.1_Missense_Mutation_p.N276K|CHST8_ENST00000438847.3_Missense_Mutation_p.N276K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	276					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCACCCCAACAGCTACTATC	0.632																																																	0								ENSG00000124302						95	90	92					19																	34263521		2203	4300	6503	CHST8	SO:0001583	missense	0			-	HGNC	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.828C>G	19.37:g.34263521C>G	ENSP00000262622:p.Asn276Lys	Somatic	0	77	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	Q9H3N2	Missense_Mutation	SNP							pfam_Sulfotransferase	p.N276K	ENST00000262622.4	37	c.828	CCDS12433.1	19	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589114	0.66105	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73258	-0.73;-0.73;-0.73	5.15	-2.94	0.05581	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.70842	2.15	0.36187	D	0.849804	D	0.69078	0.997	D	0.76071	0.987	T	0.79806	-0.1648	10	0.49607	T	0.09	-23.1987	11.755	0.51870	0.0:0.5311:0.0:0.4689	.	276	Q9H2A9	CHST8_HUMAN	K	276	ENSP00000392604:N276K;ENSP00000393879:N276K;ENSP00000262622:N276K	ENSP00000262622:N276K	N	+	3	2	CHST8	38955361	0.953000	0.32496	0.992000	0.48379	0.883000	0.51084	0.162000	0.16501	-0.261000	0.09405	0.297000	0.19635	AAC	-	pfam_Sulfotransferase		0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	protein_coding	OTTHUMT00000451453.1	C	NM_022467	-		34263521	1	no_errors	ENST00000262622	ensembl	human	known	74_37	missense	SNP	0.956	G	G	34263521	C	G	34263521	3	3	208	1	0	0	0	0	1	0	0	0	3412	477	17	4	838	4	CHST8	19	34263521	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09	14914441	34263521	24865462	44	17083											
CBLC	23624	genome.wustl.edu	37	chr19	45285744	45285744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgcagggacaagccaGgcaggtaaagggtccagggc	17	10	0	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:45285744G>T	ENST00000270279.3	+	4	838	c.775G>T	c.(775-777)Ggc>Tgc	p.G259C	CBLC_ENST00000341505.4_Missense_Mutation_p.G259C	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	259	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGACAAGCCAGGCAGGTAAAG	0.607			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0								ENSG00000142273						55	51	53					19																	45285744		2203	4300	6503	CBLC	SO:0001583	missense	0			-	HGNC	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.775G>T	19.37:g.45285744G>T	ENSP00000270279:p.Gly259Cys	Somatic	0	28	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP							pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.G259C	ENST00000270279.3	37	c.775	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	15.47	2.842180	0.51057	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.86956	-2.19;-1.96	4.7	4.7	0.59300	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.56097	D	0.000028	D	0.93074	0.7795	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93743	0.7052	10	0.87932	D	0	-32.6705	15.4982	0.75673	0.0:0.0:1.0:0.0	.	259;259	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	C	259	ENSP00000270279:G259C;ENSP00000340250:G259C	ENSP00000270279:G259C	G	+	1	0	CBLC	49977584	1.000000	0.71417	0.988000	0.46212	0.015000	0.08874	9.116000	0.94341	2.603000	0.88011	0.561000	0.74099	GGC	-	pfam_Adaptor_Cbl_SH2-like		0.607	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	protein_coding	OTTHUMT00000319732.2	G	NM_012116	-		45285744	1	no_errors	ENST00000270279	ensembl	human	known	74_37	missense	SNP	0.999	T	T	45285744	G	T	45285744	3	4	208	1	0	0	0	0	1	0	0	0	2704	1000	35	3	789	3	CBLC	19	45285744	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	11022223	45285744	13843239	45	17084											
CACNG8	59283	genome.wustl.edu	37	chr19	54466532	54466532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcactgactactggctcTacacgcgcgccctcatctgc	8	17	4	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:54466532T>G	ENST00000270458.2	+	1	239	c.136T>G	c.(136-138)Tac>Gac	p.Y46D		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	46					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CTACTGGCTCTACACGCGCGC	0.701																																																	0								ENSG00000142408						39	38	38					19																	54466532		2203	4299	6502	CACNG8	SO:0001583	missense	0			-	HGNC	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.136T>G	19.37:g.54466532T>G	ENSP00000270458:p.Tyr46Asp	Somatic	0	30	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	Q9BXT0|Q9BY23	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.Y46D	ENST00000270458.2	37	c.136	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271520	0.80469	.	.	ENSG00000142408	ENST00000270458	D	0.89270	-2.49	3.66	3.66	0.41972	.	0.000000	0.64402	U	0.000003	D	0.93913	0.8052	M	0.85197	2.74	0.36917	D	0.891196	D	0.89917	1.0	D	0.79784	0.993	D	0.95959	0.8960	9	0.87932	D	0	-11.2159	10.5633	0.45159	0.0:0.0:0.0:1.0	.	46	Q8WXS5	CCG8_HUMAN	D	46	ENSP00000270458:Y46D	ENSP00000270458:Y46D	Y	+	1	0	CACNG8	59158344	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.161000	0.77505	1.451000	0.47736	0.247000	0.18012	TAC	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu		0.701	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	protein_coding	OTTHUMT00000139361.3	T		-		54466532	1	no_errors	ENST00000270458	ensembl	human	known	74_37	missense	SNP	1.000	G	G	54466532	T	G	54466532	3	3	208	1	0	0	0	0	1	0	0	0	2565	1522	53	5	138	5	CACNG8	19	54466532	Missense_Mutation	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09	9180788	54466532	4662451	46	17085											
ZNF776	284309	genome.wustl.edu	37	chr19	58264667	58264667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttcttttaggttgttggTatggagcaaaagacgagaca	11	4	1	2			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr19:58264667T>C	ENST00000317178.5	+	3	432	c.169T>C	c.(169-171)Tat>Cat	p.Y57H	AC003006.7_ENST00000594684.1_Missense_Mutation_p.Y57H|ZNF776_ENST00000431353.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	57	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)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGGTTGTTGGTATGGAGCAAA	0.428																																																	0								ENSG00000152443						119	121	120					19																	58264667		2203	4300	6503	ZNF776	SO:0001583	missense	0			-	HGNC	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.169T>C	19.37:g.58264667T>C	ENSP00000321812:p.Tyr57His	Somatic	0	94	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	86	18.10	Q6ZS36|Q8N968	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y57H	ENST00000317178.5	37	c.169	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	T	4.605	0.112524	0.08831	.	.	ENSG00000152443	ENST00000317178	T	0.00784	5.7	2.08	-4.16	0.03869	Krueppel-associated box (3);	.	.	.	.	T	0.00328	0.0010	N	0.01874	-0.695	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.40850	-0.9541	9	0.10111	T	0.7	.	3.9202	0.09240	0.1729:0.3999:0.0:0.4272	.	57;57	Q68DI1;B4DSC6	ZN776_HUMAN;.	H	57	ENSP00000321812:Y57H	ENSP00000321812:Y57H	Y	+	1	0	ZNF776	62956479	0.000000	0.05858	0.008000	0.14137	0.655000	0.38815	-2.267000	0.01170	-0.828000	0.04273	0.260000	0.18958	TAT	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	protein_coding	OTTHUMT00000346722.2	T	NM_173632	-		58264667	1	no_errors	ENST00000317178	ensembl	human	known	74_37	missense	SNP	0.000	C	C	58264667	T	C	58264667	3	2	208	1	0	0	0	0	1	0	0	0	18156	1638	57	5	179	5	ZNF776	19	58264667	Missense_Mutation	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09	3798135	58264667	864316	47	17086											
FAM83C	128876	genome.wustl.edu	37	chr20	33879944	33879944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtaggcagcctcacccCgctccaggagggcgtcggcc	15	16	1	0			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr20:33879944C>T	ENST00000374408.3	-	1	260	c.164G>A	c.(163-165)cGg>cAg	p.R55Q		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	55										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGCCTCACCCCGCTCCAGGAG	0.711																																																	0								ENSG00000125998																																			FAM83C	SO:0001583	missense	0			-	HGNC	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.164G>A	20.37:g.33879944C>T	ENSP00000363529:p.Arg55Gln	Somatic	0	41	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP							pfam_DUF1669	p.R55Q	ENST00000374408.3	37	c.164	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429783	0.43122	.	.	ENSG00000125998	ENST00000374408	T	0.11821	2.74	5.09	2.06	0.26882	.	0.541532	0.19373	N	0.115859	T	0.07188	0.0182	N	0.17474	0.49	0.33091	D	0.537981	B	0.26120	0.142	B	0.19946	0.027	T	0.29366	-1.0014	10	0.18276	T	0.48	-6.0677	9.1969	0.37233	0.0:0.6782:0.0:0.3218	.	55	Q9BQN1	FA83C_HUMAN	Q	55	ENSP00000363529:R55Q	ENSP00000363529:R55Q	R	-	2	0	FAM83C	33343358	0.841000	0.29509	0.981000	0.43875	0.853000	0.48598	0.056000	0.14256	0.674000	0.31244	0.462000	0.41574	CGG	-	pfam_DUF1669		0.711	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	protein_coding	OTTHUMT00000078854.3	C		-		33879944	-1	no_errors	ENST00000374408	ensembl	human	known	74_37	missense	SNP	0.826	T	T	33879944	C	T	33879944	3	4	208	1	0	0	0	0	1	0	0	0	5637	652	23	1	2095	1	FAM83C	20	33879944	Missense_Mutation	SNP	C	TCGA-RN-AAAQ-01A-21D-A38Z-09		33879944	29145576	48	17087											
SLC5A3	6526	genome.wustl.edu	37	chr21	35469189	35469189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctccccaaaagaggaaccAtaccaaatgcaagaaaagag	8	10	0	3	rs199799705		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr21:35469189A>G	ENST00000381151.3	+	2	2204	c.1692A>G	c.(1690-1692)ccA>ccG	p.P564P	SLC5A3_ENST00000608209.1_Silent_p.P564P|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	564					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AAGAGGAACCATACCAAATGC	0.463																																																	0								ENSG00000198743						106	95	99					21																	35469189		2203	4300	6503	SLC5A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1692A>G	21.37:g.35469189A>G		Somatic	0	34	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	O43489	Silent	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P564	ENST00000381151.3	37	c.1692	CCDS33549.1	21																																																																																			-	NULL		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	protein_coding	OTTHUMT00000141037.1	A		-		35469189	1	no_errors	ENST00000381151	ensembl	human	known	74_37	silent	SNP	0.000	G	G	35469189	A	G	35469189	2	3	208	1	0	0	0	0	0	0	0	1	14674	204	8	5		5	SLC5A3	21	35469189	Silent	SNP	A	TCGA-RN-AAAQ-01A-21D-A38Z-09		35469189	12660706	49	17088											
CBS	875	genome.wustl.edu	37	chr21	44483184	44483184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccttcgggatccaccccaAtgatctgcagagggcgcggc	12	15	1	2	rs5742905		TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr21:44483184A>G	ENST00000398165.3	-	10	1092	c.833T>C	c.(832-834)aTt>aCt	p.I278T	CBS_ENST00000544202.1_Missense_Mutation_p.I190T|CBS_ENST00000398168.1_Missense_Mutation_p.I278T|CBS_ENST00000398158.1_Missense_Mutation_p.I278T|CBS_ENST00000352178.5_Missense_Mutation_p.I278T|CBS_ENST00000359624.3_Missense_Mutation_p.I278T	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	278			I -> S (in CBSD; loss of activity). {ECO:0000269|PubMed:21520339}.|I -> T (in CBSD; mild to severe form; common mutation; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates; dbSNP:rs5742905). {ECO:0000269|PubMed:11013450, ECO:0000269|PubMed:11359213, ECO:0000269|PubMed:12007221, ECO:0000269|PubMed:12124992, ECO:0000269|PubMed:1301198, ECO:0000269|PubMed:14635102, ECO:0000269|PubMed:15146473, ECO:0000269|PubMed:15993874, ECO:0000269|PubMed:21240075, ECO:0000269|PubMed:7506602, ECO:0000269|PubMed:7611293, ECO:0000269|PubMed:8528202, ECO:0000269|PubMed:8803779, ECO:0000269|PubMed:9156316, ECO:0000269|PubMed:9266356, ECO:0000269|PubMed:9361025, ECO:0000269|PubMed:9889017}.		cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ATCCACCCCAATGATCTGCAG	0.587													A|||	1	0.000199681	0	0	5008	,	,		18957	0		0.001	False		,,,				2504	0																0			GRCh37	CM920136	CBS	M	rs5742905	ENSG00000160200	A	THR/ILE,THR/ILE,THR/ILE	16,4390	9.9+/-24.2	1,14,2188	82	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	833,833,833	3.5	0.3	21	dbSNP_114	75	24,8576	11.9+/-42.8	0,24,4276	yes	missense,missense,missense	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	89,89,89	1,38,6464	GG,GA,AA		0.2791,0.3631,0.3076	possibly-damaging,possibly-damaging,possibly-damaging	278/552,278/552,278/552	44483184	40,12966	2203	4300	6503	CBS	SO:0001583	missense	0			-	HGNC	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.833T>C	21.37:g.44483184A>G	ENSP00000381231:p.Ile278Thr	Somatic	0	41	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP							pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth	p.I278T	ENST00000398165.3	37	c.833	CCDS13693.1	21	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122269	0.37436	0.003631	0.002791	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.67	3.52	0.40303	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.175508	0.49305	D	0.000157	D	0.98134	0.9384	M	0.82823	2.61	0.37297	A	0.908532	D;D	0.54601	0.967;0.967	P;P	0.62382	0.901;0.901	D	0.99856	1.1077	9	0.56958	D	0.05	-11.7082	8.4981	0.33141	0.9096:0.0:0.0904:0.0	rs5742905;rs12329790;rs59005818;rs5742905	278;235	P35520;B7Z2D6	CBS_HUMAN;.	T	278;278;278;278;278;235;190	ENSP00000381225:I278T;ENSP00000381231:I278T;ENSP00000352643:I278T;ENSP00000344460:I278T;ENSP00000381234:I278T;ENSP00000439332:I190T	ENSP00000344460:I278T	I	-	2	0	CBS	43356253	1.000000	0.71417	0.290000	0.24890	0.036000	0.12997	7.928000	0.87587	0.653000	0.30826	-0.353000	0.07706	ATT	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth		0.587	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	protein_coding	OTTHUMT00000195525.1	A	NM_000071	rs5742905		44483184	-1	no_errors	ENST00000398168	ensembl	human	known	74_37	missense	SNP	0.966	G	G	44483184	A	G	44483184	3	3	208	1	0	0	0	0	1	0	0	0	2713	101	4	5	854	5	CBS	21	44483184	Missense_Mutation	SNP	A	TCGA-RN-AAAQ-01A-21D-A38Z-09	9013995	44483184	3646711	50	17089											
COL18A1	80781	genome.wustl.edu	37	chr21	46924426	46924434	+	In_Frame_Del	DEL	GGCCCCCCA	GGCCCCCCA	-													ccagcctgcccggcccccccGgccccccaggccccccaggc					rs28696990|rs149296338|rs201180574|rs78227997	byFrequency	TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	GGCCCCCCA	GGCCCCCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr21:46924426_46924434delGGCCCCCCA	ENST00000359759.4	+	33	4090_4098	c.4069_4077delGGCCCCCCA	c.(4069-4077)ggccccccadel	p.GPP1360del	COL18A1_ENST00000400337.2_In_Frame_Del_p.GPP945del|COL18A1_ENST00000355480.5_In_Frame_Del_p.GPP1125del|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1360	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		cggcccccccggccccccaggccccccag	0.708																																																	0								ENSG00000182871																																			COL18A1	SO:0001651	inframe_deletion	0				HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4069_4077delGGCCCCCCA	21.37:g.46924435_46924443delGGCCCCCCA	ENSP00000352798:p.Gly1360_Pro1362del	Somatic					0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.GPP1360in_frame_del	ENST00000359759.4	37	c.4069_4077		21																																																																																			-	NULL		0.708	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	GGCCCCCCA				46924434	1	no_errors	ENST00000359759	ensembl	human	known	74_37	in_frame_del	DEL	0.307:0.391:0.336:0.964:0.952:0.917:0.918:0.919:0.837	-	-	46924434	GGCCCCCCA	-	46924426	7	5	208	1	0	1	0	1	0	0	0	0	3677	1130	39	0	4313	0	COL18A1	21	46924426	In_Frame_Del	DEL	GGCCCCCCA	TCGA-RN-AAAQ-01A-21D-A38Z-09	2441242	46924426	1205469	51	17090											
THOC5	8563	genome.wustl.edu	37	chr22	29927861	29927861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgaacaaagaggacaTagaggggaggcggcaggtgt	18	6	0	3			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chr22:29927861T>C	ENST00000490103.1	-	8	928	c.806A>G	c.(805-807)tAt>tGt	p.Y269C	THOC5_ENST00000397872.1_Missense_Mutation_p.Y269C|THOC5_ENST00000397873.2_Missense_Mutation_p.Y269C|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Y269C	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	269					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						AAAGAGGACATAGAGGGGAGG	0.597																																																	0								ENSG00000100296						84	69	74					22																	29927861		2203	4300	6503	THOC5	SO:0001583	missense	0			-	HGNC	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.806A>G	22.37:g.29927861T>C	ENSP00000420306:p.Tyr269Cys	Somatic	0	48	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	73	12.05	O60839|Q9UPZ5	Missense_Mutation	SNP							pfam_THO_Thoc5	p.Y269C	ENST00000490103.1	37	c.806	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882206	0.91740	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75665	-0.3239	10	0.72032	D	0.01	-32.9831	16.5885	0.84745	0.0:0.0:0.0:1.0	.	269	Q13769	THOC5_HUMAN	C	269	ENSP00000420306:Y269C;ENSP00000380970:Y269C;ENSP00000380969:Y269C;ENSP00000380971:Y269C	ENSP00000380969:Y269C	Y	-	2	0	THOC5	28257861	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.875000	0.87205	2.317000	0.78254	0.460000	0.39030	TAT	-	pfam_THO_Thoc5		0.597	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	protein_coding	OTTHUMT00000322097.1	T	NM_003678	-		29927861	-1	no_errors	ENST00000397871	ensembl	human	known	74_37	missense	SNP	1.000	C	C	29927861	T	C	29927861	3	2	208	1	0	0	0	0	1	0	0	0	15875	1406	49	5	1297	5	THOC5	22	29927861	Missense_Mutation	SNP	T	TCGA-RN-AAAQ-01A-21D-A38Z-09		29927861	21376705	52	17091											
DGKK	139189	genome.wustl.edu	37	chrX	50213484	50213484	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtcgcctctggacagGgacctggagcaagctctgga	15	11	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chrX:50213484G>T	ENST00000376025.2	-	0	253							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTCTGGACAGGGACCTGGAGC	0.672																																																	0								ENSG00000204466						52	61	58					X																	50213484		1924	4118	6042	DGKK			0			-	HGNC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213484G>T		Somatic	0	78	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	66	40.00	B2RP91	RNA	SNP							-	NULL	ENST00000376025.2	37	NULL		X																																																																																			-	-		0.672	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742	-		50213484	-1	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	SNP	0.001	T	T	50213484	G	T	50213484	1	4	208	0	1	0	0	0	0	0	0	0	4474	1232	43	3		3	DGKK	23	50213484	RNA	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09		50213484	105057076	53	17092											
CUL4B	8450	genome.wustl.edu	37	chrX	119694212	119694212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcttcttctgtatcggtacGtggctggaagcagccactga	12	10	2	1			TCGA-RN-AAAQ-01A-21D-A38Z-09	TCGA-RN-AAAQ-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af916933-1e8c-423a-9d74-39fcb5a59e68	cb44b945-75a0-4ace-8e93-7593624f09eb	g.chrX:119694212G>T	ENST00000404115.3	-	3	737	c.336C>A	c.(334-336)caC>caA	p.H112Q	CUL4B_ENST00000371322.5_Missense_Mutation_p.H94Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.H99Q	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	112	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTATCGGTACGTGGCTGGAAG	0.542																																																	0								ENSG00000158290						73	60	64					X																	119694212		2203	4300	6503	CUL4B	SO:0001583	missense	0			-	HGNC	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.336C>A	X.37:g.119694212G>T	ENSP00000384109:p.His112Gln	Somatic	0	37	0		0.4924942182234				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.H112Q	ENST00000404115.3	37	c.336	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950353	0.34377	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.67698	-0.27;-0.28;-0.28	5.76	4.79	0.61399	.	0.181066	0.52532	D	0.000069	T	0.48352	0.1495	N	0.25647	0.755	0.33758	D	0.621508	B;B	0.26195	0.089;0.144	B;B	0.30943	0.057;0.122	T	0.53472	-0.8434	9	.	.	.	-4.9253	4.1864	0.10400	0.2484:0.0:0.7516:0.0	.	112;94	Q13620;Q13620-1	CUL4B_HUMAN;.	Q	94;99;112	ENSP00000360373:H94Q;ENSP00000338919:H99Q;ENSP00000384109:H112Q	.	H	-	3	2	CUL4B	119578240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.213000	0.51153	2.436000	0.82500	0.523000	0.50628	CAC	-	NULL		0.542	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	protein_coding	OTTHUMT00000058103.1	G	NM_003588	-		119694212	-1	no_errors	ENST00000404115	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119694212	G	T	119694212	3	4	208	1	0	0	0	0	1	0	0	0	4060	1136	40	3	2485	3	CUL4B	23	119694212	Missense_Mutation	SNP	G	TCGA-RN-AAAQ-01A-21D-A38Z-09	69480728	119694212	35576348	54	17093											
SF3A3	10946	genome.wustl.edu	37	chr1	38442606	38442606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttctagaaaagcaatgtCtttgttcctttcagtgtctc	8	9	4	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:38442606C>T	ENST00000373019.4	-	12	1910	c.955G>A	c.(955-957)Gac>Aac	p.D319N	SF3A3_ENST00000448721.2_Missense_Mutation_p.D266N|SF3A3_ENST00000489537.1_5'Flank	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	319					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGCAATGTCTTTGTTCCTT	0.388																																																	0								ENSG00000183431						142	144	143					1																	38442606		2202	4300	6502	SF3A3	SO:0001583	missense	0			-	HGNC	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.955G>A	1.37:g.38442606C>T	ENSP00000362110:p.Asp319Asn	Somatic	0	65	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	41	43.06	D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP							pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.D319N	ENST00000373019.4	37	c.955	CCDS428.1	1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871834	0.72180	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.69	4.78	0.61160	.	0.142736	0.64402	D	0.000007	T	0.51924	0.1703	L	0.39898	1.24	0.49130	D	0.999752	B;B	0.24258	0.014;0.1	B;B	0.15870	0.004;0.014	T	0.46512	-0.9186	9	0.28530	T	0.3	-21.6152	14.1002	0.65049	0.0:0.9273:0.0:0.0727	.	266;319	E7EUT8;Q12874	.;SF3A3_HUMAN	N	319;266	.	ENSP00000362110:D319N	D	-	1	0	SF3A3	38215193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	1.426000	0.47256	0.585000	0.79938	GAC	-	NULL		0.388	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	protein_coding	OTTHUMT00000012976.1	C	NM_006802	-		38442606	-1	no_errors	ENST00000373019	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38442606	C	T	38442606	3	4	209	1	0	0	0	0	1	0	0	0	14156	913	32	2	574	2	SF3A3	1	38442606	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		38442606	210808015	1	17094											
MACF1	23499	genome.wustl.edu	37	chr1	39752957	39752957	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcttcttccatttcaGggtcatgcgtcttcaggatg	8	10	6	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:39752957G>T	ENST00000372915.3	+	14	1610		c.e14-1		MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCCATTTCAGGGTCATGCGT	0.363																																																	0								ENSG00000127603						112	106	108					1																	39752957		2203	4300	6503	MACF1	SO:0001630	splice_region_variant	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1524-1G>T	1.37:g.39752957G>T		Somatic	0	44	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	30	50.00	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	SNP							-	e14-1	ENST00000372915.3	37	c.1524-1		1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467528	0.84533	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACF1	39525544	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.312000	0.96287	2.773000	0.95371	0.655000	0.94253	.	-	-		0.363	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-	Intron	39752957	1	no_errors	ENST00000317713	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	39752957	G	T	39752957	5	4	209	1	0	0	0	0	0	0	1	0	9146	1014	35	3	1577	3	MACF1	1	39752957	Splice_Site	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	1310351	39752957	209497664	2	17095											
KCNC4	3749	genome.wustl.edu	37	chr1	110768794	110768794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgccgatggtagtgtcCggaaaggtatggcttcccaa	13	11	0	0	rs200184574		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:110768794C>T	ENST00000369787.3	+	3	1840	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R605W|KCNC4_ENST00000413138.3_Missense_Mutation_p.R605W	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	605					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|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)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGTAGTGTCCGGAAAGGTAT	0.647																																																	0								ENSG00000116396						52	58	56					1																	110768794		2203	4300	6503	KCNC4	SO:0001583	missense	0			-	HGNC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1813C>T	1.37:g.110768794C>T	ENSP00000358802:p.Arg605Trp	Somatic	0	140	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	14	73.58	Q3MIM4|Q5TBI6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.R605W	ENST00000369787.3	37	c.1813	CCDS821.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656015	0.88056	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.98221	-4.8;-4.63;-4.69	5.19	5.19	0.71726	.	0.134642	0.30723	N	0.009019	D	0.97579	0.9207	L	0.59436	1.845	0.43073	D	0.99471	D;D	0.71674	0.997;0.998	P;P	0.50754	0.551;0.649	D	0.98158	1.0445	10	0.87932	D	0	.	18.7013	0.91621	0.0:1.0:0.0:0.0	.	605;605	Q03721;Q03721-3	KCNC4_HUMAN;.	W	605	ENSP00000358802:R605W;ENSP00000388029:R605W;ENSP00000393655:R605W	ENSP00000358802:R605W	R	+	1	2	KCNC4	110570317	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.651000	0.61447	2.430000	0.82344	0.462000	0.41574	CGG	-	NULL		0.647	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	protein_coding	OTTHUMT00000052146.2	C	NM_001039574	rs200184574		110768794	1	no_errors	ENST00000369787	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110768794	C	T	110768794	3	4	209	1	0	0	0	0	1	0	0	0	8019	643	23	1	1957	1	KCNC4	1	110768794	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	71015837	110768794	138481827	3	17096											
VANGL1	81839	genome.wustl.edu	37	chr1	116206718	116206718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttggactctcgggaccGgaattaccagggcattgtgc	12	10	1	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:116206718G>T	ENST00000355485.2	+	4	912	c.641G>T	c.(640-642)cGg>cTg	p.R214L	VANGL1_ENST00000310260.3_Missense_Mutation_p.R214L|VANGL1_ENST00000369510.4_Missense_Mutation_p.R212L|VANGL1_ENST00000369509.1_Missense_Mutation_p.R214L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	214					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCTCGGGACCGGAATTACCAG	0.522																																																	0								ENSG00000173218						190	192	191					1																	116206718		2203	4300	6503	VANGL1	SO:0001583	missense	0			-	HGNC	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.641G>T	1.37:g.116206718G>T	ENSP00000347672:p.Arg214Leu	Somatic	0	69	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP							pfam_Strabismus,pirsf_Strabismus	p.R214L	ENST00000355485.2	37	c.641	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431398	0.25813	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.73	3.86	0.44501	.	0.446972	0.24771	N	0.035732	T	0.48607	0.1509	L	0.42245	1.32	0.25900	N	0.983362	B;B	0.09022	0.001;0.002	B;B	0.10450	0.003;0.005	T	0.33599	-0.9862	10	0.27785	T	0.31	-13.1007	2.0005	0.03466	0.2309:0.1441:0.4929:0.1321	.	212;214	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	L	214;212;214;214	ENSP00000347672:R214L;ENSP00000358523:R212L;ENSP00000310800:R214L;ENSP00000358522:R214L	ENSP00000310800:R214L	R	+	2	0	VANGL1	116008241	0.992000	0.36948	0.739000	0.30968	0.943000	0.58893	2.611000	0.46334	0.883000	0.36040	-0.142000	0.14014	CGG	-	pfam_Strabismus,pirsf_Strabismus		0.522	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	protein_coding	OTTHUMT00000033096.1	G		-		116206718	1	no_errors	ENST00000310260	ensembl	human	known	74_37	missense	SNP	0.633	T	T	116206718	G	T	116206718	3	4	209	1	0	0	0	0	1	0	0	0	17126	1116	39	3	651	3	VANGL1	1	116206718	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	5437924	116206718	133043903	4	17097											
FAM5C	339479	genome.wustl.edu	37	chr1	190067251	190067251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcactagtagacagcTtgagtctatgacgaagcaag	9	11	2	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:190067251T>A	ENST00000367462.3	-	8	2429	c.2198A>T	c.(2197-2199)aAg>aTg	p.K733M	BRINP3_ENST00000534846.1_Missense_Mutation_p.K631M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	733					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)											AGTAGACAGCTTGAGTCTATG	0.443																																																	0								ENSG00000162670						122	117	119					1																	190067251		2203	4300	6503	BRINP3	SO:0001583	missense	0			-	HGNC	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.2198A>T	1.37:g.190067251T>A	ENSP00000356432:p.Lys733Met	Somatic	0	41	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	0	100.00	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.K733M	ENST00000367462.3	37	c.2198	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173536	0.57584	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26373	1.99;1.74	5.54	5.54	0.83059	.	0.049414	0.85682	D	0.000000	T	0.50257	0.1605	M	0.73962	2.25	0.53005	D	0.999963	D;D	0.69078	0.997;0.995	D;D	0.71870	0.975;0.945	T	0.54437	-0.8294	10	0.87932	D	0	.	13.6231	0.62149	0.0:0.0:0.0:1.0	.	631;733	B7Z260;Q76B58	.;FAM5C_HUMAN	M	733;631	ENSP00000356432:K733M;ENSP00000438022:K631M	ENSP00000356432:K733M	K	-	2	0	FAM5C	188333874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.208000	0.72165	2.096000	0.63516	0.528000	0.53228	AAG	-	NULL		0.443	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	protein_coding	OTTHUMT00000086278.1	T	NM_199051	-		190067251	-1	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	SNP	1.000	A	A	190067251	T	A	190067251	3	1	209	1	0	0	0	0	1	0	0	0	5596	1609	56	5	106	5	FAM5C	1	190067251	Missense_Mutation	SNP	T	TCGA-SG-A6Z4-01A-22D-A33E-09	73860533	190067251	59183370	5	17098											
SLC45A3	85414	genome.wustl.edu	37	chr1	205632049	205632049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacgaaatccgtgtaaaaCagcgtgaaggtcatgagtgc	11	10	1	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:205632049C>A	ENST00000367145.3	-	3	1165	c.870G>T	c.(868-870)ctG>ctT	p.L290L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	290					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCGTGTAAAACAGCGTGAAGG	0.647			T	"ETV1, ETV5, ELK4, ERG"	prostate																																			Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	0								ENSG00000158715						40	44	43					1																	205632049		2203	4300	6503	SLC45A3	SO:0001819	synonymous_variant	0			-	HGNC	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.870G>T	1.37:g.205632049C>A		Somatic	0	100	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K2U9	Silent	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L290	ENST00000367145.3	37	c.870	CCDS1458.1	1																																																																																			-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.647	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	protein_coding	OTTHUMT00000090619.1	C	NM_033102	-		205632049	-1	no_errors	ENST00000367145	ensembl	human	known	74_37	silent	SNP	0.998	A	A	205632049	C	A	205632049	2	1	209	1	0	0	0	0	0	0	0	1	14650	465	17	3		3	SLC45A3	1	205632049	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	15564798	205632049	43618572	6	17099											
C1orf116	79098	genome.wustl.edu	37	chr1	207198249	207198249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccccggggagtgggttggGttatgggcagtgctcggaaa	18	7	0	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:207198249G>T	ENST00000359470.5	-	3	515	c.266C>A	c.(265-267)aCc>aAc	p.T89N	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	89						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTGGGTTGGGTTATGGGCAG	0.597																																																	0								ENSG00000182795						95	101	99					1																	207198249		2203	4300	6503	C1orf116	SO:0001583	missense	0			-	HGNC		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.266C>A	1.37:g.207198249G>T	ENSP00000352447:p.Thr89Asn	Somatic	0	61	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	C9JV41|Q658X3	Missense_Mutation	SNP							NULL	p.T89N	ENST00000359470.5	37	c.266	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428811	0.43122	.	.	ENSG00000182795	ENST00000359470	T	0.09350	2.99	4.39	-0.122	0.13531	.	1.309000	0.04622	N	0.402222	T	0.10078	0.0247	L	0.51422	1.61	0.20196	N	0.999924	P	0.43701	0.815	B	0.36989	0.238	T	0.30851	-0.9964	10	0.62326	D	0.03	-1.6746	3.2343	0.06758	0.164:0.3226:0.3958:0.1176	.	89	Q9BW04	SARG_HUMAN	N	89	ENSP00000352447:T89N	ENSP00000352447:T89N	T	-	2	0	C1orf116	205264872	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.096000	0.11059	0.168000	0.19655	0.655000	0.94253	ACC	-	NULL		0.597	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	protein_coding	OTTHUMT00000088973.1	G	NM_024115	-		207198249	-1	no_errors	ENST00000359470	ensembl	human	known	74_37	missense	SNP	0.000	T	T	207198249	G	T	207198249	3	4	209	1	0	0	0	0	1	0	0	0	1991	1261	44	3	1547	3	C1orf116	1	207198249	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	1566200	207198249	42052372	7	17100											
MTR	4548	genome.wustl.edu	37	chr1	236978947	236978947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttttgaggagaaatatgCtccccggcctatctttgtaa	8	9	2	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr1:236978947C>A	ENST00000366577.5	+	7	1047	c.653C>A	c.(652-654)gCt>gAt	p.A218D	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.A218D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	218	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAGAAATATGCTCCCCGGCCT	0.383																																																	0								ENSG00000116984						96	96	96					1																	236978947		2203	4300	6503	MTR	SO:0001583	missense	0			-	HGNC	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.653C>A	1.37:g.236978947C>A	ENSP00000355536:p.Ala218Asp	Somatic	0	45	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP							pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.A218D	ENST00000366577.5	37	c.653	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430475	0.25726	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.11604	2.76;2.76	6.07	2.89	0.33648	Homocysteine S-methyltransferase (4);	0.649258	0.16392	N	0.216418	T	0.06096	0.0158	N	0.11131	0.1	0.18873	N	0.999988	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.33394	-0.9870	10	0.42905	T	0.14	-3.4169	9.8668	0.41148	0.327:0.6022:0.0:0.0708	.	218;218;218	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	D	218	ENSP00000355536:A218D;ENSP00000441845:A218D	ENSP00000355536:A218D	A	+	2	0	MTR	235045570	0.901000	0.30685	0.828000	0.32881	0.687000	0.40016	0.787000	0.26858	0.888000	0.36160	-0.182000	0.12963	GCT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH		0.383	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	protein_coding	OTTHUMT00000096632.2	C	NM_000254	-		236978947	1	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	SNP	0.271	A	A	236978947	C	A	236978947	3	1	209	1	0	0	0	0	1	0	0	0	9960	797	28	3	679	3	MTR	1	236978947	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	29780698	236978947	12271674	8	17101											
OSR1	130497	genome.wustl.edu	37	chr2	19553480	19553480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaaggcactgtgggcagGccgttcactgcctgaaggaa	14	11	1	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:19553480G>A	ENST00000272223.2	-	2	431	c.87C>T	c.(85-87)ggC>ggT	p.G29G	OSR1_ENST00000536433.1_Silent_p.G29G	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	29					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTGTGGGCAGGCCGTTCACTG	0.612																																																	0								ENSG00000143867						51	49	50					2																	19553480		2203	4300	6503	OSR1	SO:0001819	synonymous_variant	0			-	HGNC	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.87C>T	2.37:g.19553480G>A		Somatic	0	67	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B3KV97|D6W521	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G29	ENST00000272223.2	37	c.87	CCDS1694.1	2																																																																																			-	NULL		0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	protein_coding	OTTHUMT00000201432.2	G	NM_145260	-		19553480	-1	no_errors	ENST00000272223	ensembl	human	known	74_37	silent	SNP	0.969	A	A	19553480	G	A	19553480	2	1	209	1	0	0	0	0	0	0	0	1	11295	1190	42	2		2	OSR1	2	19553480	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		19553480	223645893	9	17102											
EPAS1	2034	genome.wustl.edu	37	chr2	46605046	46605046	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacagggaatcagaacttCgaggagtcctcagcctatgg	11	11	2	1	rs142534349		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:46605046C>T	ENST00000263734.3	+	10	1773	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	421					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)			ATCAGAACTTCGAGGAGTCCT	0.637																																																	0								ENSG00000116016						29	28	28					2																	46605046		2146	4196	6342	EPAS1	SO:0001819	synonymous_variant	0			-	HGNC	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.1263C>T	2.37:g.46605046C>T		Somatic	0	66	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	Q86VA2|Q99630	Silent	SNP							pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.F421	ENST00000263734.3	37	c.1263	CCDS1825.1	2																																																																																			-	NULL		0.637	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	protein_coding	OTTHUMT00000250752.2	C	NM_001430	-		46605046	1	no_errors	ENST00000263734	ensembl	human	known	74_37	silent	SNP	0.731	T	T	46605046	C	T	46605046	2	4	209	1	0	0	0	0	0	0	0	1	5152	883	31	1		1	EPAS1	2	46605046	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	27051566	46605046	196594327	10	17103											
RAB11FIP5	26056	genome.wustl.edu	37	chr2	73316336	73316336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgtccttcatggacAggtcaaacatactggcgctc	10	11	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:73316336A>G	ENST00000258098.6	-	2	779	c.539T>C	c.(538-540)cTg>cCg	p.L180P	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	180					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTCATGGACAGGTCAAACAT	0.527																																																	0								ENSG00000135631						275	273	274					2																	73316336		2203	4300	6503	RAB11FIP5	SO:0001583	missense	0			-	HGNC	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.539T>C	2.37:g.73316336A>G	ENSP00000258098:p.Leu180Pro	Somatic	0	51	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O94939|Q9P0M1	Missense_Mutation	SNP							pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L180P	ENST00000258098.6	37	c.539	CCDS1923.1	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010130	0.75046	.	.	ENSG00000135631	ENST00000258098	T	0.48522	0.81	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000015	T	0.64681	0.2620	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.64045	-0.6499	10	0.37606	T	0.19	-10.7927	13.2544	0.60070	1.0:0.0:0.0:0.0	.	180;180	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	P	180	ENSP00000258098:L180P	ENSP00000258098:L180P	L	-	2	0	RAB11FIP5	73169844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.077000	0.62373	0.459000	0.35465	CTG	-	superfamily_C2_dom		0.527	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	protein_coding	OTTHUMT00000251995.1	A	NM_015470	-		73316336	-1	no_errors	ENST00000258098	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73316336	A	G	73316336	3	3	209	1	0	0	0	0	1	0	0	0	12905	188	7	5	1438	5	RAB11FIP5	2	73316336	Missense_Mutation	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09	26711290	73316336	169883037	11	17104											
MOGS	7841	genome.wustl.edu	37	chr2	74688578	74688578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgtggagtttggcagCccgagcctggtgaggaccct	14	13	1	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:74688578C>T	ENST00000233616.4	-	4	2500	c.2338G>A	c.(2338-2340)Gct>Act	p.A780T	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.A674T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	780					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGTTTGGCAGCCCGAGCCTGG	0.602																																																	0								ENSG00000115275						77	84	82					2																	74688578		2082	4210	6292	MOGS	SO:0001583	missense	0			-	HGNC	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2338G>A	2.37:g.74688578C>T	ENSP00000233616:p.Ala780Thr	Somatic	0	63	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	14.81	A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP							pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.A780T	ENST00000233616.4	37	c.2338	CCDS42700.1	2	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667383	0.67814	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.41400	1.0;1.0	4.48	4.48	0.54585	Six-hairpin glycosidase-like (1);	0.122568	0.53938	D	0.000043	T	0.64023	0.2561	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.66352	-0.5945	10	0.48119	T	0.1	-7.6399	10.1336	0.42693	0.1996:0.8004:0.0:0.0	.	780	Q13724	MOGS_HUMAN	T	780;674	ENSP00000233616:A780T;ENSP00000388201:A674T	ENSP00000233616:A780T	A	-	1	0	MOGS	74542086	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	5.077000	0.64419	2.488000	0.83962	0.563000	0.77884	GCT	-	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like		0.602	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	protein_coding	OTTHUMT00000328382.1	C	NM_006302	-		74688578	-1	no_errors	ENST00000233616	ensembl	human	known	74_37	missense	SNP	0.998	T	T	74688578	C	T	74688578	3	4	209	1	0	0	0	0	1	0	0	0	9699	739	26	2	179	2	MOGS	2	74688578	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	1372242	74688578	168510795	12	17105											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746658	77746658	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttggagcttagaattaattCtttcagtctacggatccctt	8	8	3	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:77746658C>T	ENST00000409093.1	-	3	673	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	LRRTM4_ENST00000409884.1_Missense_Mutation_p.E113K|LRRTM4_ENST00000409088.3_Missense_Mutation_p.E113K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E114K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E114K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	113					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGAATTAATTCTTTCAGTCTA	0.393																																																	0								ENSG00000176204						149	135	140					2																	77746658		1843	4088	5931	LRRTM4	SO:0001583	missense	0			-	HGNC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.337G>A	2.37:g.77746658C>T	ENSP00000386357:p.Glu113Lys	Somatic	0	33	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	9	82.00	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E114K	ENST00000409093.1	37	c.340	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350664	0.82132	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.96	5.96	0.96718	.	0.048793	0.85682	D	0.000000	T	0.65729	0.2719	L	0.37697	1.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.62709	-0.6797	10	0.45353	T	0.12	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	114;113;113	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	114;113;113;113;114	ENSP00000387228:E114K;ENSP00000387297:E113K;ENSP00000386357:E113K;ENSP00000386236:E113K;ENSP00000386286:E114K	ENSP00000386236:E113K	E	-	1	0	LRRTM4	77600166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAA	-	smart_Leu-rich_rpt_typical-subtyp		0.393	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	protein_coding	OTTHUMT00000328225.1	C	NM_024993	-		77746658	-1	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77746658	C	T	77746658	3	4	209	1	0	0	0	0	1	0	0	0	9044	922	32	2	1449	2	LRRTM4	2	77746658	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	3058080	77746658	165452715	13	17106											
DDX18	8886	genome.wustl.edu	37	chr2	118582579	118582579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacattccttaagaagaacCgaaagaagaagcttatggtc	8	7	0	4			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:118582579C>T	ENST00000263239.2	+	9	1398	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	424	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAGAAGAACCGAAAGAAGAA	0.383																																																	0								ENSG00000088205						119	116	117					2																	118582579		2203	4300	6503	DDX18	SO:0001587	stop_gained	0			-	HGNC	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1270C>T	2.37:g.118582579C>T	ENSP00000263239:p.Arg424*	Somatic	0	30	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Nonsense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R424*	ENST00000263239.2	37	c.1270	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.174587	0.97348	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	.	.	.	5.17	4.28	0.50868	.	0.290919	0.38605	N	0.001635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	15.3142	0.74059	0.1412:0.8588:0.0:0.0	.	.	.	.	X	424;163;88	.	ENSP00000263239:R424X	R	+	1	2	DDX18	118299049	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.502000	0.66956	1.303000	0.44873	-0.188000	0.12872	CGA	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.383	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	protein_coding	OTTHUMT00000129632.3	C	NM_006773	-		118582579	1	no_errors	ENST00000263239	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	118582579	C	T	118582579	4	4	209	1	0	0	0	0	0	1	0	0	4347	644	23	1	1304	1	DDX18	2	118582579	Nonsense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	40835921	118582579	124616794	14	17107											
POTEF	728378	genome.wustl.edu	37	chr2	130832537	130832537	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacagggacagcacagcctgGatggccacgtacatggctgg	14	11	0	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:130832537G>A	ENST00000409914.2	-	17	2907	c.2508C>T	c.(2506-2508)atC>atT	p.I836I	POTEF_ENST00000357462.5_Silent_p.I836I	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	836	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.I836M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCACAGCCTGGATGGCCACGT	0.582																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000196604						107	129	122					2																	130832537		2197	4288	6485	POTEF	SO:0001819	synonymous_variant	0			-	HGNC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2508C>T	2.37:g.130832537G>A		Somatic	0	63	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NC34	Silent	SNP							pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.I836	ENST00000409914.2	37	c.2508	CCDS46409.1	2																																																																																			-	pfam_Actin-related,smart_Actin-related		0.582	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	protein_coding	OTTHUMT00000331889.2	G	NM_001099771	-		130832537	-1	no_errors	ENST00000357462	ensembl	human	known	74_37	silent	SNP	1.000	A	A	130832537	G	A	130832537	2	1	209	1	0	0	0	0	0	0	0	1	12267	1164	41	2		2	POTEF	2	130832537	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	12249958	130832537	112366836	15	17108											
FAM123C	205147	genome.wustl.edu	37	chr2	131521735	131521735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggccgcatggcctcCaaggcaagacatgggcagtg	14	15	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:131521735C>A	ENST00000423981.1	+	2	2200	c.2090C>A	c.(2089-2091)cCa>cAa	p.P697Q	AMER3_ENST00000321420.4_Missense_Mutation_p.P697Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	697					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCATGGCCTCCAAGGCAAGAC	0.647																																																	0								ENSG00000178171						23	24	24					2																	131521735		2201	4299	6500	AMER3	SO:0001583	missense	0			-	HGNC	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2090C>A	2.37:g.131521735C>A	ENSP00000392700:p.Pro697Gln	Somatic	0	47	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B7ZLH6	Missense_Mutation	SNP							pfam_Uncharacterised_FAM123	p.P697Q	ENST00000423981.1	37	c.2090	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	C	7.344	0.621427	0.14193	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.50277	0.75;0.75	4.61	-0.928	0.10448	.	0.816316	0.10278	N	0.693886	T	0.28466	0.0704	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.21211	-1.0252	10	0.22109	T	0.4	-7.6317	3.5173	0.07730	0.2075:0.3121:0.0:0.4804	.	697	Q8N944	F123C_HUMAN	Q	697	ENSP00000314914:P697Q;ENSP00000392700:P697Q	ENSP00000314914:P697Q	P	+	2	0	FAM123C	131238205	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.053000	0.11846	-0.121000	0.11787	-0.379000	0.06801	CCA	-	NULL		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	protein_coding	OTTHUMT00000254531.3	C	NM_152698	-		131521735	1	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	SNP	0.000	A	A	131521735	C	A	131521735	3	1	209	1	0	0	0	0	1	0	0	0	5426	594	21	3	2092	3	FAM123C	2	131521735	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	689198	131521735	111677638	16	17109											
LRP1B	53353	genome.wustl.edu	37	chr2	141533723	141533723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccccagaagtcttattcCgtaggatggtggggtttctt	11	9	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:141533723C>A	ENST00000389484.3	-	33	6415	c.5444G>T	c.(5443-5445)cGg>cTg	p.R1815L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1815					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)		AGTCTTATTCCGTAGGATGGT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						135	129	131					2																	141533723		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	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.5444G>T	2.37:g.141533723C>A	ENSP00000374135:p.Arg1815Leu	Somatic	0	87	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.23	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R1815L	ENST00000389484.3	37	c.5444	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338822	0.60963	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.94778	0.8314	M	0.79475	2.455	0.54753	D	0.999986	D	0.89917	1.0	D	0.81914	0.995	D	0.91743	0.5406	10	0.10377	T	0.69	.	19.8051	0.96529	0.0:1.0:0.0:0.0	.	1815	Q9NZR2	LRP1B_HUMAN	L	1815;1753	ENSP00000374135:R1815L	ENSP00000374135:R1815L	R	-	2	0	LRP1B	141250193	0.941000	0.31946	0.689000	0.30133	0.063000	0.16089	7.692000	0.84203	2.702000	0.92279	0.591000	0.81541	CGG	-	NULL		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	-		141533723	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	0.985	A	A	141533723	C	A	141533723	3	1	209	1	0	0	0	0	1	0	0	0	8957	652	23	3	8591	3	LRP1B	2	141533723	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	10011988	141533723	101665650	17	17110											
SCN9A	6335	genome.wustl.edu	37	chr2	167138320	167138321	+	Splice_Site	INS	-	-	A													tatttgattggtcgtgccctINSaaaaaaaaaatcaattaatg					rs35888674|rs202239471	byFrequency	TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:167138320_167138321insA	ENST00000409435.1	-	12	1974		c.e12-2		SCN9A_ENST00000409672.1_Splice_Site|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCGTGCCCTAAAAAAAAAAT	0.337													|||unknown(HR)	286	0.0571086	0.0772	0.0375	5008	,	,		20055	0.0308		0.0835	False		,,,				2504	0.044																0								ENSG00000169432																																			SCN9A	SO:0001630	splice_region_variant	0				HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1975-2->T	2.37:g.167138330_167138330dupA		Somatic	0	22	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	INS							-	e12-2	ENST00000409435.1	37	c.1978-3_1978-2	CCDS46441.1	2																																																																																			-	-		0.337	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	-	NM_002977		Intron	167138321	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.002	A	A	167138321	-	A	167138320	8	5	209	1	0	1	1	0	0	0	1	0	13933	1536	53	0	4053	0	SCN9A	2	167138320	Splice_Site	INS	-	TCGA-SG-A6Z4-01A-22D-A33E-09	25604597	167138320	76061053	18	17111											
ITGA6	3655	genome.wustl.edu	37	chr2	173349540	173349540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacttgaagctgaaaaagAaagaagaaaatctgggctat	9	6	1	5			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:173349540A>G	ENST00000264106.6	+	13	1900	c.1697A>G	c.(1696-1698)gAa>gGa	p.E566G	ITGA6_ENST00000409532.1_Missense_Mutation_p.E408G|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.E566G|ITGA6_ENST00000343713.4_Missense_Mutation_p.E522G|ITGA6_ENST00000409080.1_Missense_Mutation_p.E527G|ITGA6_ENST00000264107.7_Missense_Mutation_p.E527G			P23229	ITA6_HUMAN	integrin, alpha 6	566					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCTGAAAAAGAAAGAAGAAAA	0.383																																																	0								ENSG00000091409						58	59	58					2																	173349540		2203	4300	6503	ITGA6	SO:0001583	missense	0			-	HGNC		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1697A>G	2.37:g.173349540A>G	ENSP00000264106:p.Glu566Gly	Somatic	0	31	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	4	76.47	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E566G	ENST00000264106.6	37	c.1697		2	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143188	0.57044	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.77	5.77	0.91146	.	0.245405	0.47852	D	0.000220	T	0.50633	0.1627	M	0.63428	1.95	0.45762	D	0.998656	B;B;B;B	0.30193	0.026;0.272;0.156;0.141	B;B;B;B	0.35182	0.025;0.197;0.197;0.197	T	0.53521	-0.8427	10	0.66056	D	0.02	.	14.3323	0.66566	1.0:0.0:0.0:0.0	.	522;566;527;527	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	G	408;527;566;566;522;527;566;522	ENSP00000386614:E408G;ENSP00000264107:E527G;ENSP00000264106:E566G;ENSP00000364369:E566G;ENSP00000341078:E522G;ENSP00000386896:E527G;ENSP00000406694:E566G;ENSP00000394169:E522G	ENSP00000264106:E566G	E	+	2	0	ITGA6	173057786	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.338000	0.52128	2.200000	0.70718	0.459000	0.35465	GAA	-	pfam_Integrin_alpha-2		0.383	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	protein_coding		A		-		173349540	1	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	SNP	0.998	G	G	173349540	A	G	173349540	3	3	209	1	0	0	0	0	1	0	0	0	7882	246	9	5	1626	5	ITGA6	2	173349540	Missense_Mutation	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09	6211220	173349540	69849833	19	17112											
DNAH7	56171	genome.wustl.edu	37	chr2	196681510	196681510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcaataggacgatagccCatgcgggtggtgtcaatctt	13	8	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr2:196681510C>A	ENST00000312428.6	-	51	9703	c.9603G>T	c.(9601-9603)atG>atT	p.M3201I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3201					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GACGATAGCCCATGCGGGTGG	0.428																																																	0								ENSG00000118997						153	155	154					2																	196681510		1890	4116	6006	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9603G>T	2.37:g.196681510C>A	ENSP00000311273:p.Met3201Ile	Somatic	0	41	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.M3201I	ENST00000312428.6	37	c.9603	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187948	0.38609	.	.	ENSG00000118997	ENST00000312428	D	0.86366	-2.11	5.11	5.11	0.69529	.	0.277839	0.41938	D	0.000787	D	0.88514	0.6457	M	0.79926	2.475	0.80722	D	1	B	0.20164	0.042	B	0.19946	0.027	D	0.86040	0.1519	10	0.52906	T	0.07	.	18.3163	0.90223	0.0:1.0:0.0:0.0	.	3201	Q8WXX0	DYH7_HUMAN	I	3201	ENSP00000311273:M3201I	ENSP00000311273:M3201I	M	-	3	0	DNAH7	196389755	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	4.761000	0.62243	2.652000	0.90054	0.591000	0.81541	ATG	-	NULL		0.428	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-		196681510	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	A	A	196681510	C	A	196681510	3	1	209	1	0	0	0	0	1	0	0	0	4608	594	21	3	2531	3	DNAH7	2	196681510	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	23331970	196681510	46517863	20	17113											
TADA3	10474	genome.wustl.edu	37	chr3	9822210	9822210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgctgcctcagctcctgcCggctcacctcctcctttgcc	7	22	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr3:9822210C>A	ENST00000301964.2	-	9	1688	c.1130G>T	c.(1129-1131)cGg>cTg	p.R377L	TADA3_ENST00000440161.1_Missense_Mutation_p.R377L	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	377					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CAGCTCCTGCCGGCTCACCTC	0.642																																																	0								ENSG00000171148						34	31	32					3																	9822210		2203	4300	6503	TADA3	SO:0001583	missense	0			-	HGNC	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1130G>T	3.37:g.9822210C>A	ENSP00000307684:p.Arg377Leu	Somatic	0	27	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q6FI83|Q9UFS2	Missense_Mutation	SNP							pfam_Histone_AcTrfase_su3	p.R377L	ENST00000301964.2	37	c.1130	CCDS2583.1	3	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661445	0.67700	.	.	ENSG00000171148	ENST00000301964;ENST00000440161	.	.	.	5.72	5.72	0.89469	.	0.058899	0.64402	D	0.000002	T	0.57257	0.2041	L	0.52011	1.625	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.52426	-0.8577	9	0.14656	T	0.56	-16.931	18.0605	0.89375	0.0:1.0:0.0:0.0	.	377;377	O75528;A8K899	TADA3_HUMAN;.	L	377	.	ENSP00000307684:R377L	R	-	2	0	TADA3	9797210	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	4.657000	0.61490	2.708000	0.92522	0.561000	0.74099	CGG	-	pfam_Histone_AcTrfase_su3		0.642	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	protein_coding	OTTHUMT00000250236.1	C		-		9822210	-1	no_errors	ENST00000301964	ensembl	human	known	74_37	missense	SNP	0.997	A	A	9822210	C	A	9822210	3	1	209	1	0	0	0	0	1	0	0	0	15519	652	23	3	172	3	TADA3	3	9822210	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		9822210	188200220	21	17114											
SCN10A	6336	genome.wustl.edu	37	chr3	38798178	38798178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacctcctgctccttcCggagcatctcgagggcctcc	8	18	1	0	rs143033805	byFrequency	TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr3:38798178C>T	ENST00000449082.2	-	9	1276	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	426					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCTCCTTCCGGAGCATCTC	0.502													C|||	2	0.000399361	0	0	5008	,	,		19817	0.002		0	False		,,,				2504	0																0								ENSG00000185313	C	GLN/ARG	0,4406		0,0,2203	126	124	124		1277	-1.6	0.9	3	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SCN10A	NM_006514.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	426/1957	38798178	2,13004	2203	4300	6503	SCN10A	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1277G>A	3.37:g.38798178C>T	ENSP00000390600:p.Arg426Gln	Somatic	0	34	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	A6NDQ1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.R426Q	ENST00000449082.2	37	c.1277	CCDS33736.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.40	1.339362	0.24339	0.0	2.33E-4	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	5.21	-1.65	0.08291	.	0.468395	0.19915	N	0.103210	D	0.89026	0.6598	N	0.17631	0.505	0.22034	N	0.999407	B	0.14012	0.009	B	0.04013	0.001	T	0.77446	-0.2585	10	0.44086	T	0.13	.	12.469	0.55775	0.0:0.2858:0.0:0.7142	.	426	Q9Y5Y9	SCNAA_HUMAN	Q	426	ENSP00000390600:R426Q	ENSP00000390600:R426Q	R	-	2	0	SCN10A	38773182	0.044000	0.20184	0.850000	0.33497	0.401000	0.30781	0.288000	0.18939	-0.431000	0.07307	-0.224000	0.12420	CGG	-	NULL		0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	protein_coding	OTTHUMT00000109745.3	C	NM_006514	rs143033805		38798178	-1	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	SNP	0.950	T	T	38798178	C	T	38798178	3	4	209	1	0	0	0	0	1	0	0	0	13920	652	23	1	4669	1	SCN10A	3	38798178	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	28975968	38798178	159224252	22	17115											
ZNF502	91392	genome.wustl.edu	37	chr3	44762851	44762851	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaactcatactggagagaGaccctacacatgtgaggaat	11	8	1	4			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr3:44762851G>T	ENST00000296091.4	+	4	798	c.542G>T	c.(541-543)aGa>aTa	p.R181I	ZNF502_ENST00000436624.2_Missense_Mutation_p.R181I|ZNF502_ENST00000449836.1_Missense_Mutation_p.R181I	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	181					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)		ACTGGAGAGAGACCCTACACA	0.413																																																	0								ENSG00000196653						139	150	147					3																	44762851		2203	4300	6503	ZNF502	SO:0001583	missense	0			-	HGNC	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.542G>T	3.37:g.44762851G>T	ENSP00000296091:p.Arg181Ile	Somatic	0	51	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R181I	ENST00000296091.4	37	c.542	CCDS2719.1	3	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192676	0.58017	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783	T;T;T	0.20332	2.08;2.08;2.08	4.79	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45915	0.1366	M	0.90595	3.13	0.39010	D	0.95953	D	0.76494	0.999	D	0.72338	0.977	T	0.50725	-0.8794	9	0.87932	D	0	-15.907	4.1256	0.10126	0.2657:0.1759:0.5585:0.0	.	181	Q8TBZ5	ZN502_HUMAN	I	181	ENSP00000397390:R181I;ENSP00000296091:R181I;ENSP00000406469:R181I	ENSP00000296091:R181I	R	+	2	0	ZNF502	44737855	0.026000	0.19158	0.042000	0.18584	0.980000	0.70556	0.155000	0.16362	1.360000	0.45960	0.655000	0.94253	AGA	-	pfscan_Znf_C2H2		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	protein_coding	OTTHUMT00000256744.4	G	NM_033210	-		44762851	1	no_errors	ENST00000296091	ensembl	human	known	74_37	missense	SNP	0.747	T	T	44762851	G	T	44762851	3	4	209	1	0	0	0	0	1	0	0	0	17957	942	33	3	548	3	ZNF502	3	44762851	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	5964673	44762851	153259579	23	17116											
BSN	8927	genome.wustl.edu	37	chr3	49695575	49695575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccccaccgccgaagaGtctgccaaagagagattctc	9	15	3	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr3:49695575G>T	ENST00000296452.4	+	5	8700	c.8586G>T	c.(8584-8586)gaG>gaT	p.E2862D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2862					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)		CCGCCGAAGAGTCTGCCAAAG	0.652																																																	0								ENSG00000164061						32	36	35					3																	49695575		2202	4300	6502	BSN	SO:0001583	missense	0			-	HGNC	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.8586G>T	3.37:g.49695575G>T	ENSP00000296452:p.Glu2862Asp	Somatic	0	113	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	O43161|Q7LGH3	Missense_Mutation	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E2862D	ENST00000296452.4	37	c.8586	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	7.487	0.649844	0.14516	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.56	1.59	0.23543	.	0.169729	0.52532	D	0.000062	T	0.06554	0.0168	N	0.11651	0.15	0.32857	D	0.507503	B	0.26445	0.149	B	0.20384	0.029	T	0.14062	-1.0486	10	0.40728	T	0.16	-22.8193	2.0138	0.03493	0.2081:0.2472:0.4175:0.1272	.	2862	Q9UPA5	BSN_HUMAN	D	2862	ENSP00000296452:E2862D	ENSP00000296452:E2862D	E	+	3	2	BSN	49670579	0.966000	0.33281	1.000000	0.80357	0.911000	0.54048	0.061000	0.14366	0.326000	0.23384	-0.361000	0.07541	GAG	-	NULL		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	G	NM_003458	-		49695575	1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	0.996	T	T	49695575	G	T	49695575	3	4	209	1	0	0	0	0	1	0	0	0	1532	1020	36	3	8604	3	BSN	3	49695575	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	4932724	49695575	148326855	24	17117											
LRTM1	57408	genome.wustl.edu	37	chr3	54952905	54952905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgattcacagatgatgcCgtctgttagtccccctttaa	9	10	2	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr3:54952905C>A	ENST00000273286.5	-	3	781	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G131C|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	207	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAGATGATGCCGTCTGTTAGT	0.468																																																	0								ENSG00000144771						43	41	42					3																	54952905		2203	4300	6503	LRTM1	SO:0001583	missense	0			-	HGNC	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.619G>T	3.37:g.54952905C>A	ENSP00000273286:p.Gly207Cys	Somatic	0	35	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q8IUU2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G207C	ENST00000273286.5	37	c.619	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302110	0.23736	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.89681	4.26;-2.55	6.07	3.16	0.36331	Cysteine-rich flanking region, C-terminal (1);	0.418861	0.28706	N	0.014407	D	0.88444	0.6438	L	0.31664	0.95	0.09310	N	1	D	0.71674	0.998	P	0.58970	0.849	T	0.81462	-0.0922	10	0.59425	D	0.04	.	11.851	0.52412	0.0:0.8383:0.0:0.1617	.	207	Q9HBL6	LRTM1_HUMAN	C	207;131	ENSP00000273286:G207C;ENSP00000419772:G131C	ENSP00000273286:G207C	G	-	1	0	LRTM1	54927945	0.011000	0.17503	0.010000	0.14722	0.006000	0.05464	1.646000	0.37249	0.329000	0.23460	-0.150000	0.13652	GGC	-	smart_Cys-rich_flank_reg_C		0.468	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	protein_coding	OTTHUMT00000351399.1	C	NM_020678	-		54952905	-1	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	SNP	0.049	A	A	54952905	C	A	54952905	3	1	209	1	0	0	0	0	1	0	0	0	9046	652	23	3	422	3	LRTM1	3	54952905	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	5257330	54952905	143069525	25	17118											
MAP9	79884	genome.wustl.edu	37	chr4	156268989	156268989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctccacggaggaagtgcCtcactttcaagaaaggaatg	13	9	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr4:156268989C>A	ENST00000311277.4	-	14	2153	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.E606D|AC097467.2_ENST00000595760.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000512269.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000593486.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597955.1_RNA|AC097467.2_ENST00000608092.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	630					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GAGGAAGTGCCTCACTTTCAA	0.343																																																	0								ENSG00000164114						105	102	103					4																	156268989		2202	4300	6502	MAP9	SO:0001583	missense	0			-	HGNC	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1890G>T	4.37:g.156268989C>A	ENSP00000310593:p.Glu630Asp	Somatic	0	29	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP							NULL	p.E630D	ENST00000311277.4	37	c.1890	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506728	0.44558	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.27256	1.68;1.78	5.72	-0.192	0.13248	.	0.235520	0.42053	N	0.000777	T	0.17831	0.0428	L	0.52364	1.645	0.23585	N	0.997353	B;B	0.19583	0.021;0.037	B;B	0.19148	0.016;0.024	T	0.18587	-1.0332	10	0.25106	T	0.35	-2.9678	5.7028	0.17891	0.0:0.4113:0.2561:0.3325	.	605;630	B4DVG9;Q49MG5	.;MAP9_HUMAN	D	630;606	ENSP00000310593:E630D;ENSP00000427402:E606D	ENSP00000310593:E630D	E	-	3	2	MAP9	156488439	0.018000	0.18449	0.025000	0.17156	0.932000	0.56968	-0.232000	0.09055	-0.061000	0.13110	-1.202000	0.01658	GAG	-	NULL		0.343	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	protein_coding	OTTHUMT00000257771.3	C	NM_001039580	-		156268989	-1	no_errors	ENST00000311277	ensembl	human	known	74_37	missense	SNP	0.015	A	A	156268989	C	A	156268989	3	1	209	1	0	0	0	0	1	0	0	0	9272	680	24	3	57	3	MAP9	4	156268989	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		156268989	34885287	26	17119											
ODZ3	55714	genome.wustl.edu	37	chr4	183713453	183713453	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctgcttcatagccaGcggcagtacatcttcgaata	8	11	4	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr4:183713453G>T	ENST00000511685.1	+	26	5751	c.5628G>T	c.(5626-5628)caG>caT	p.Q1876H	TENM3_ENST00000406950.2_Missense_Mutation_p.Q1876H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1876					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)										TTCATAGCCAGCGGCAGTACA	0.498																																																	0								ENSG00000218336						100	101	101					4																	183713453		2034	4193	6227	TENM3	SO:0001583	missense	0			-	HGNC	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.5628G>T	4.37:g.183713453G>T	ENSP00000424226:p.Gln1876His	Somatic	0	55	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q1876H	ENST00000511685.1	37	c.5628	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547896	0.45383	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87412	-2.25;-2.25	5.18	4.34	0.51931	.	.	.	.	.	D	0.92221	0.7533	M	0.83603	2.65	0.58432	D	0.999993	D	0.61697	0.99	D	0.70487	0.969	D	0.91193	0.4985	9	0.39692	T	0.17	.	9.3319	0.38027	0.2227:0.0:0.7773:0.0	.	1876	Q9P273	TEN3_HUMAN	H	1876	ENSP00000424226:Q1876H;ENSP00000385276:Q1876H	ENSP00000385276:Q1876H	Q	+	3	2	ODZ3	183950447	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.407000	0.34657	1.418000	0.47098	0.591000	0.81541	CAG	-	NULL		0.498	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	G		-		183713453	1	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	SNP	1.000	T	T	183713453	G	T	183713453	3	4	209	1	0	0	0	0	1	0	0	0	10838	962	34	3	5726	3	ODZ3	4	183713453	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	27444464	183713453	7440823	27	17120											
MARCH11	441061	genome.wustl.edu	37	chr5	16067845	16067845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacatcccagtgcaaattcAcagctcgccagcgcttaaac	6	15	1	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr5:16067845A>G	ENST00000332432.8	-	4	1143	c.944T>C	c.(943-945)gTg>gCg	p.V315A		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	315					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GTGCAAATTCACAGCTCGCCA	0.418																																																	0								ENSG00000183654						60	59	59					5																	16067845		1897	4134	6031	MARCH11	SO:0001583	missense	0			-	HGNC	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.944T>C	5.37:g.16067845A>G	ENSP00000333181:p.Val315Ala	Somatic	0	29	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	A7E2S6	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.V315A	ENST00000332432.8	37	c.944	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590370	0.66105	.	.	ENSG00000183654	ENST00000332432	T	0.23754	1.89	5.54	5.54	0.83059	.	0.000000	0.48767	D	0.000180	T	0.48466	0.1501	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.68192	0.956	T	0.49523	-0.8931	10	0.87932	D	0	-15.3288	15.971	0.80019	1.0:0.0:0.0:0.0	.	315	A6NNE9	MARHB_HUMAN	A	315	ENSP00000333181:V315A	ENSP00000333181:V315A	V	-	2	0	MARCH11	16120845	1.000000	0.71417	0.949000	0.38748	0.980000	0.70556	8.673000	0.91186	2.223000	0.72356	0.533000	0.62120	GTG	-	NULL		0.418	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	protein_coding	OTTHUMT00000366096.2	A	NM_001102562	-		16067845	-1	no_errors	ENST00000332432	ensembl	human	known	74_37	missense	SNP	0.999	G	G	16067845	A	G	16067845	3	3	209	1	0	0	0	0	1	0	0	0	9302	159	6	5	268	5	MARCH11	5	16067845	Missense_Mutation	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09		16067845	164847415	28	17121											
MTMR12	54545	genome.wustl.edu	37	chr5	32268807	32268807	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaacccagaagatatttacCtgtattgttttgtgcagcag	9	7	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr5:32268807C>G	ENST00000382142.3	-	6	753	c.583G>C	c.(583-585)Gtc>Ctc	p.V195L	MTMR12_ENST00000264934.5_Splice_Site_p.V195L|MTMR12_ENST00000280285.5_Splice_Site_p.V195L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	195						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGATATTTACCTGTATTGTTT	0.403																																																	0								ENSG00000150712						91	85	87					5																	32268807		2203	4300	6503	MTMR12	SO:0001630	splice_region_variant	0			-	HGNC	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.583+1G>C	5.37:g.32268807C>G		Somatic	0	40	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP							pfam_Myotubularin_assoc	p.V195L	ENST00000382142.3	37	c.583	CCDS34138.1	5	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552433	0.45487	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95518	-3.73;-3.39;-3.25	5.22	4.34	0.51931	.	0.921001	0.09249	N	0.828100	D	0.92789	0.7707	L	0.36672	1.1	0.34377	D	0.69265	B;B;B	0.21606	0.058;0.034;0.006	B;B;B	0.22601	0.04;0.033;0.014	D	0.87687	0.2551	9	.	.	.	.	15.7546	0.78013	0.0:0.8631:0.1369:0.0	.	195;195;195	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	L	195	ENSP00000280285:V195L;ENSP00000371577:V195L;ENSP00000264934:V195L	.	V	-	1	0	MTMR12	32304564	1.000000	0.71417	0.761000	0.31378	0.946000	0.59487	3.527000	0.53517	1.171000	0.42768	0.650000	0.86243	GTC	-	NULL		0.403	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	protein_coding	OTTHUMT00000366579.1	C	NM_019061	-	Missense_Mutation	32268807	-1	no_errors	ENST00000382142	ensembl	human	known	74_37	missense	SNP	0.996	G	G	32268807	C	G	32268807	5	3	209	1	0	0	0	0	0	0	1	0	9943	695	24	4	1704	4	MTMR12	5	32268807	Splice_Site	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	16200962	32268807	148646453	29	17122											
UGT3A1	133688	genome.wustl.edu	37	chr5	35965701	35965701	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcccattggctcctggaGaaactaaagaacatcagaaa	8	9	1	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr5:35965701G>A	ENST00000274278.3	-	4	987	c.630C>T	c.(628-630)ttC>ttT	p.F210F	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Silent_p.F156F|UGT3A1_ENST00000507113.1_Silent_p.F176F|UGT3A1_ENST00000503189.1_Silent_p.F210F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	210						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCTCCTGGAGAAACTAAAGA	0.458																																																	0								ENSG00000145626						96	100	99					5																	35965701		2203	4300	6503	UGT3A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.630C>T	5.37:g.35965701G>A		Somatic	0	57	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	30	61.04	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.F210	ENST00000274278.3	37	c.630	CCDS3913.1	5																																																																																			-	pfam_UDP_glucos_trans		0.458	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	protein_coding	OTTHUMT00000253770.2	G	NM_152404	-		35965701	-1	no_errors	ENST00000274278	ensembl	human	known	74_37	silent	SNP	0.001	A	A	35965701	G	A	35965701	2	1	209	1	0	0	0	0	0	0	0	1	16970	933	33	2		2	UGT3A1	5	35965701	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	3696894	35965701	144949559	30	17123											
F2RL2	2151	genome.wustl.edu	37	chr5	75914149	75914149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttggtgtagaatacagtgGtacagatggatctggtcctg	15	5	1	2	rs373076521		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr5:75914149G>T	ENST00000296641.4	-	2	586	c.383C>A	c.(382-384)aCc>aAc	p.T128N	IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T106N|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	128					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GAATACAGTGGTACAGATGGA	0.443																																																	0								ENSG00000164220						83	84	84					5																	75914149		2203	4300	6503	F2RL2	SO:0001583	missense	0			-	HGNC	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.383C>A	5.37:g.75914149G>T	ENSP00000296641:p.Thr128Asn	Somatic	0	48	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.T128N	ENST00000296641.4	37	c.383	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617412	0.14129	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.41065	1.01;1.01	5.15	0.136	0.14780	GPCR, rhodopsin-like superfamily (1);	0.372482	0.29459	N	0.012094	T	0.35248	0.0925	L	0.46614	1.455	0.09310	N	1	P	0.40302	0.712	B	0.41440	0.357	T	0.20940	-1.0260	10	0.41790	T	0.15	-2.3704	10.4863	0.44724	0.434:0.0:0.566:0.0	.	128	O00254	PAR3_HUMAN	N	128;106	ENSP00000296641:T128N;ENSP00000426703:T106N	ENSP00000296641:T128N	T	-	2	0	F2RL2	75949905	0.618000	0.27051	0.000000	0.03702	0.116000	0.19942	1.719000	0.38011	-0.209000	0.10156	-0.259000	0.10710	ACC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn		0.443	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	protein_coding	OTTHUMT00000219958.3	G		-		75914149	-1	no_errors	ENST00000296641	ensembl	human	known	74_37	missense	SNP	0.000	T	T	75914149	G	T	75914149	3	4	209	1	0	0	0	0	1	0	0	0	5347	1261	44	3	745	3	F2RL2	5	75914149	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	39948448	75914149	105001111	31	17124											
OTP	23440	genome.wustl.edu	37	chr5	76932753	76932753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaactcgttgagctgtgCgggggtgaagcgcgtccggt	16	11	0	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr5:76932753C>T	ENST00000306422.3	-	2	1478	c.340G>A	c.(340-342)Gca>Aca	p.A114T	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	114					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TTGAGCTGTGCGGGGGTGAAG	0.667																																																	0								ENSG00000171540						108	110	110					5																	76932753		2203	4300	6503	OTP	SO:0001583	missense	0			-	HGNC		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.340G>A	5.37:g.76932753C>T	ENSP00000302814:p.Ala114Thr	Somatic	0	82	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	26	40.91		Missense_Mutation	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom	p.A114T	ENST00000306422.3	37	c.340	CCDS4039.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.282106	0.95489	.	.	ENSG00000171540	ENST00000306422	D	0.96104	-3.91	5.18	5.18	0.71444	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	L	0.27975	0.815	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95434	0.8519	10	0.39692	T	0.17	.	17.6239	0.88089	0.0:1.0:0.0:0.0	.	114	Q5XKR4	OTP_HUMAN	T	114	ENSP00000302814:A114T	ENSP00000302814:A114T	A	-	1	0	OTP	76968509	1.000000	0.71417	0.850000	0.33497	0.935000	0.57460	4.699000	0.61796	2.589000	0.87451	0.655000	0.94253	GCA	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.667	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTP	protein_coding	OTTHUMT00000220016.2	C		-		76932753	-1	no_errors	ENST00000306422	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76932753	C	T	76932753	3	4	209	1	0	0	0	0	1	0	0	0	11312	768	27	1	645	1	OTP	5	76932753	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	1018604	76932753	103982507	32	17125											
FCHSD1	89848	genome.wustl.edu	37	chr5	141030652	141030652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggatgctcagctgttccagGaagcgaagcttcacctcctg	11	12	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr5:141030652G>T	ENST00000435817.2	-	2	104	c.54C>A	c.(52-54)ttC>ttA	p.F18L	FCHSD1_ENST00000519800.1_Missense_Mutation_p.F18L|FCHSD1_ENST00000522126.1_5'UTR|ARAP3_ENST00000512390.1_5'Flank|FCHSD1_ENST00000522783.1_Missense_Mutation_p.F18L	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	18	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.								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)			GCTGTTCCAGGAAGCGAAGCT	0.597																																																	0								ENSG00000197948						25	27	26					5																	141030652		1996	4168	6164	FCHSD1	SO:0001583	missense	0			-	HGNC	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.54C>A	5.37:g.141030652G>T	ENSP00000399259:p.Phe18Leu	Somatic	0	89	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.F18L	ENST00000435817.2	37	c.54	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233506	0.39498	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000519800	T;T;T	0.33216	2.26;2.05;1.42	4.34	2.49	0.30216	Fps/Fes/Fer/CIP4 homology (1);	0.000000	0.64402	D	0.000001	T	0.19406	0.0466	L	0.44542	1.39	0.32540	N	0.533787	B	0.24576	0.106	B	0.32533	0.147	T	0.30387	-0.9980	10	0.02654	T	1	-13.688	3.2704	0.06879	0.3087:0.0:0.5078:0.1836	.	18	Q86WN1	FCSD1_HUMAN	L	18	ENSP00000399259:F18L;ENSP00000428677:F18L;ENSP00000428776:F18L	ENSP00000399259:F18L	F	-	3	2	FCHSD1	141010836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	0.422000	0.26005	0.561000	0.74099	TTC	-	smart_FCH_dom,pfscan_FCH_dom		0.597	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	protein_coding	OTTHUMT00000375282.2	G	NM_033449	-		141030652	-1	no_errors	ENST00000435817	ensembl	human	known	74_37	missense	SNP	1.000	T	T	141030652	G	T	141030652	3	4	209	1	0	0	0	0	1	0	0	0	5791	1165	41	3	2094	3	FCHSD1	5	141030652	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	64097899	141030652	39884608	33	17126											
DNAH8	1769	genome.wustl.edu	37	chr6	38816506	38816506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atataattgaagagtggctcGtagtacagaacctttgggtt	11	5	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr6:38816506G>A	ENST00000359357.3	+	35	4731	c.4477G>A	c.(4477-4479)Gta>Ata	p.V1493I	DNAH8_ENST00000441566.1_Missense_Mutation_p.V1493I|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1710I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1493					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGTGGCTCGTAGTACAGAA	0.368																																																	0								ENSG00000124721						80	87	85					6																	38816506		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4477G>A	6.37:g.38816506G>A	ENSP00000352312:p.Val1493Ile	Somatic	0	29	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	46	44.33	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V1493I	ENST00000359357.3	37	c.4477		6	.	.	.	.	.	.	.	.	.	.	G	6.451	0.451347	0.12223	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60920	0.15;0.15;0.15	5.78	-3.56	0.04626	Dynein heavy chain, domain-2 (1);	0.798663	0.11567	N	0.551143	T	0.19167	0.0460	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17992	-1.0351	10	0.36615	T	0.2	.	14.7748	0.69724	0.6568:0.0:0.3432:0.0	.	1493	Q96JB1	DYH8_HUMAN	I	1698;1698;1493;1493	ENSP00000333363:V1698I;ENSP00000352312:V1493I;ENSP00000402294:V1493I	ENSP00000333363:V1698I	V	+	1	0	DNAH8	38924484	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.162000	0.10012	-0.791000	0.04486	-1.105000	0.02106	GTA	-	pfam_Dynein_heavy_dom-2		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38816506	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	0.001	A	A	38816506	G	A	38816506	3	1	209	1	0	0	0	0	1	0	0	0	4609	1145	40	1	4607	1	DNAH8	6	38816506	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		38816506	132298561	34	17127											
TNFRSF21	27242	genome.wustl.edu	37	chr6	47202418	47202418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtacctttggtaataaAggaaccgttcctgctcagcg	10	12	1	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr6:47202418A>G	ENST00000296861.2	-	5	2119	c.1726T>C	c.(1726-1728)Ttt>Ctt	p.F576L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	576					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTGGTAATAAAGGAACCGTTC	0.582																																																	0								ENSG00000146072						44	43	43					6																	47202418		2203	4300	6503	TNFRSF21	SO:0001583	missense	0			-	HGNC	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1726T>C	6.37:g.47202418A>G	ENSP00000296861:p.Phe576Leu	Somatic	0	36	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP							pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.F576L	ENST00000296861.2	37	c.1726	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	A	34	5.332286	0.95733	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.74421	-0.84	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80039	-0.1549	10	0.87932	D	0	.	15.5142	0.75809	1.0:0.0:0.0:0.0	.	576	O75509	TNR21_HUMAN	L	576;265	ENSP00000296861:F576L	ENSP00000296861:F576L	F	-	1	0	TNFRSF21	47310377	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.278000	0.95766	2.129000	0.65627	0.529000	0.55759	TTT	-	NULL		0.582	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	protein_coding	OTTHUMT00000040814.1	A	NM_014452	-		47202418	-1	no_errors	ENST00000296861	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47202418	A	G	47202418	3	3	209	1	0	0	0	0	1	0	0	0	16302	72	3	5	249	5	TNFRSF21	6	47202418	Missense_Mutation	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09	8385912	47202418	123912649	35	17128											
PKHD1	5314	genome.wustl.edu	37	chr6	51619707	51619707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactattttgtcatgggggCgccaatccactgcatcttct	10	11	3	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr6:51619707C>T	ENST00000371117.3	-	56	8947	c.8672G>A	c.(8671-8673)cGc>cAc	p.R2891H	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2891H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2891					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)					GTCATGGGGGCGCCAATCCAC	0.433																																																	0								ENSG00000170927						155	146	149					6																	51619707		2203	4300	6503	PKHD1	SO:0001583	missense	0			-	HGNC	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.8672G>A	6.37:g.51619707C>T	ENSP00000360158:p.Arg2891His	Somatic	0	8	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	9	70.00	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.R2891H	ENST00000371117.3	37	c.8672	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603129	0.46423	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83755	-1.76;-1.76	5.63	-4.53	0.03462	.	0.940169	0.08899	N	0.877580	T	0.66896	0.2836	L	0.45051	1.395	0.09310	N	1	D;D;P	0.56521	0.976;0.975;0.947	B;P;B	0.45474	0.306;0.482;0.306	T	0.67601	-0.5629	10	0.62326	D	0.03	.	14.2904	0.66273	0.0:0.3183:0.0:0.6817	.	2891;2891;2891	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	H	2891	ENSP00000360158:R2891H;ENSP00000341097:R2891H	ENSP00000341097:R2891H	R	-	2	0	PKHD1	51727666	0.007000	0.16637	0.389000	0.26208	0.414000	0.31173	-0.412000	0.07132	-0.887000	0.03961	-0.123000	0.14984	CGC	-	NULL		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	C	NM_138694	-		51619707	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	SNP	0.009	T	T	51619707	C	T	51619707	3	4	209	1	0	0	0	0	1	0	0	0	11973	768	27	1	3639	1	PKHD1	6	51619707	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	4417289	51619707	119495360	36	17129											
GRIK2	2898	genome.wustl.edu	37	chr6	102250236	102250236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctcacaggcagaataActttcaacaaaaccaatggc	7	11	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr6:102250236A>G	ENST00000421544.1	+	8	1616	c.1126A>G	c.(1126-1128)Act>Gct	p.T376A	GRIK2_ENST00000318991.6_Missense_Mutation_p.T376A|GRIK2_ENST00000369138.1_Missense_Mutation_p.T376A|GRIK2_ENST00000413795.1_Missense_Mutation_p.T376A|GRIK2_ENST00000369137.3_Missense_Mutation_p.T376A|GRIK2_ENST00000369134.4_Missense_Mutation_p.T327A	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	376					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)	AGGCAGAATAACTTTCAACAA	0.348																																																	0								ENSG00000164418						115	116	115					6																	102250236		2203	4299	6502	GRIK2	SO:0001583	missense	0			-	HGNC		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.1126A>G	6.37:g.102250236A>G	ENSP00000397026:p.Thr376Ala	Somatic	0	39	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	38	47.22	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T376A	ENST00000421544.1	37	c.1126	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	9.980	1.227841	0.22542	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.61	5.61	0.85477	Extracellular ligand-binding receptor (1);	0.249412	0.39544	N	0.001329	T	0.54255	0.1847	N	0.14661	0.345	0.33887	D	0.636911	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.007;0.007;0.004	T	0.47129	-0.9141	10	0.11794	T	0.64	.	15.8049	0.78491	1.0:0.0:0.0:0.0	.	376;376;376	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	A	376;376;376;376;376;376;327;338;89	ENSP00000397026:T376A;ENSP00000405596:T376A;ENSP00000358134:T376A;ENSP00000358133:T376A;ENSP00000313276:T376A;ENSP00000358130:T327A;ENSP00000391988:T89A	ENSP00000313276:T376A	T	+	1	0	GRIK2	102356929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.358000	0.59442	2.127000	0.65507	0.445000	0.29226	ACT	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.348	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	A		-		102250236	1	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	SNP	1.000	G	G	102250236	A	G	102250236	3	3	209	1	0	0	0	0	1	0	0	0	6776	43	2	5	1156	5	GRIK2	6	102250236	Missense_Mutation	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09	50630529	102250236	68864831	37	17130											
ATG5	9474	genome.wustl.edu	37	chr6	106696116	106696116	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcccaaaactggtcaaatCtgtctgtaatgatataaatt	7	7	3	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr6:106696116C>A	ENST00000369076.3	-	6	805	c.482G>T	c.(481-483)aGa>aTa	p.R161I	ATG5_ENST00000343245.3_Missense_Mutation_p.R161I|ATG5_ENST00000360666.4_Missense_Mutation_p.D38Y|ATG5_ENST00000369070.1_Missense_Mutation_p.R83I	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	161					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CTGGTCAAATCTGTCTGTAAT	0.313																																																	0								ENSG00000057663						58	60	59					6																	106696116		2203	4300	6503	ATG5	SO:0001583	missense	0			-	HGNC	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.482G>T	6.37:g.106696116C>A	ENSP00000358072:p.Arg161Ile	Somatic	0	93	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	110	39.23	O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP							pfam_Atg5	p.R161I	ENST00000369076.3	37	c.482	CCDS5055.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.75|16.75	3.208271|3.208271	0.58343|0.58343	.|.	.|.	ENSG00000057663|ENSG00000057663	ENST00000360666|ENST00000369076;ENST00000343245;ENST00000369070	.|.	.|.	.|.	5.88|5.88	3.87|3.87	0.44632|0.44632	.|.	.|0.042198	.|0.85682	.|D	.|0.000000	T|T	0.18718|0.18718	0.0449|0.0449	L|L	0.43152|0.43152	1.355|1.355	0.30630|0.30630	N|N	0.757555|0.757555	P|B;B	0.42649|0.15719	0.786|0.014;0.006	B|B;B	0.44044|0.16722	0.439|0.016;0.015	T|T	0.09640|0.09640	-1.0665|-1.0665	8|9	0.87932|0.56958	D|D	0|0.05	-4.8443|-4.8443	4.4552|4.4552	0.11640|0.11640	0.0:0.5706:0.0:0.4294|0.0:0.5706:0.0:0.4294	.|.	38|83;161	Q7Z3H3|Q9H1Y0-2;Q9H1Y0	.|.;ATG5_HUMAN	Y|I	38|161;161;83	.|.	ENSP00000353884:D38Y|ENSP00000343313:R161I	D|R	-|-	1|2	0|0	ATG5|ATG5	106802809|106802809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.399000|5.399000	0.66314|0.66314	1.485000|1.485000	0.48380|0.48380	0.591000|0.591000	0.81541|0.81541	GAT|AGA	-	pfam_Atg5		0.313	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	protein_coding	OTTHUMT00000043476.1	C	NM_004849	-		106696116	-1	no_errors	ENST00000343245	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106696116	C	A	106696116	3	1	209	1	0	0	0	0	1	0	0	0	1100	913	32	3	357	3	ATG5	6	106696116	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	4445880	106696116	64418951	38	17131											
HECW1	23072	genome.wustl.edu	37	chr7	43351444	43351444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccgacgccggtgcaaggAgccgctccgatacagctaca	13	14	0	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr7:43351444A>G	ENST00000395891.2	+	4	715	c.110A>G	c.(109-111)gAg>gGg	p.E37G	HECW1_ENST00000453890.1_Missense_Mutation_p.E37G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	37					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						CGGTGCAAGGAGCCGCTCCGA	0.607																																																	0								ENSG00000002746						53	61	59					7																	43351444		1985	4142	6127	HECW1	SO:0001583	missense	0			-	HGNC	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.110A>G	7.37:g.43351444A>G	ENSP00000379228:p.Glu37Gly	Somatic	0	27	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP							pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E37G	ENST00000395891.2	37	c.110	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293083	0.80914	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.37411	1.2;1.2	5.96	5.96	0.96718	.	0.099811	0.64402	D	0.000002	T	0.45915	0.1366	L	0.47716	1.5	0.47214	D	0.999357	P;P;D	0.59767	0.919;0.877;0.986	B;B;P	0.53266	0.375;0.339;0.722	T	0.29305	-1.0016	10	0.40728	T	0.16	.	16.422	0.83766	1.0:0.0:0.0:0.0	.	37;69;37	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	G	37;37;36	ENSP00000379228:E37G;ENSP00000407774:E37G	ENSP00000265522:E36G	E	+	2	0	HECW1	43317969	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.843000	0.69424	2.270000	0.75569	0.533000	0.62120	GAG	-	NULL		0.607	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	A	NM_015052	-		43351444	1	no_errors	ENST00000395891	ensembl	human	known	74_37	missense	SNP	1.000	G	G	43351444	A	G	43351444	3	3	209	1	0	0	0	0	1	0	0	0	7044	304	11	5	116	5	HECW1	7	43351444	Missense_Mutation	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09		43351444	115787219	39	17132											
TSGA13	114960	genome.wustl.edu	37	chr7	130370043	130370043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttggtttgtctcttttgGctcattgctgttgactgcta	9	8	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr7:130370043G>T	ENST00000456951.1	-	3	857	c.6C>A	c.(4-6)agC>agA	p.S2R	TSGA13_ENST00000356588.3_Missense_Mutation_p.S2R			Q96PP4	TSG13_HUMAN	testis specific, 13	2										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTCTCTTTTGGCTCATTGCTG	0.433																																																	0								ENSG00000213265						211	190	197					7																	130370043		2203	4300	6503	TSGA13	SO:0001583	missense	0			-	HGNC	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.6C>A	7.37:g.130370043G>T	ENSP00000406047:p.Ser2Arg	Somatic	0	51	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KSC9	Missense_Mutation	SNP							NULL	p.S2R	ENST00000456951.1	37	c.6	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	G	8.220	0.802282	0.16397	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	4.47	3.59	0.41128	.	1.298600	0.05525	N	0.562811	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	0.999998	P	0.35982	0.531	B	0.31686	0.134	T	0.19353	-1.0308	9	0.62326	D	0.03	0.0287	8.3212	0.32130	0.1045:0.0:0.8955:0.0	.	2	Q96PP4	TSG13_HUMAN	R	2	.	ENSP00000348996:S2R	S	-	3	2	TSGA13	130020583	0.965000	0.33210	0.558000	0.28319	0.016000	0.09150	1.046000	0.30354	1.481000	0.48307	0.557000	0.71058	AGC	-	NULL		0.433	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	protein_coding	OTTHUMT00000337997.1	G	NM_052933	-		130370043	-1	no_errors	ENST00000356588	ensembl	human	known	74_37	missense	SNP	0.566	T	T	130370043	G	T	130370043	3	4	209	1	0	0	0	0	1	0	0	0	16626	1194	42	3	849	3	TSGA13	7	130370043	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	87018599	130370043	28768620	40	17133											
C7orf34	3792	genome.wustl.edu	37	chr7	142636688	142636688	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcactgggagcaggGggcggccaaaggcagtgggt	21	8	0	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr7:142636688G>T	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Silent_p.G15G	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGAGCAGGGGGCGGCCAAA	0.637																																																	0								ENSG00000165131						39	42	41					7																	142636688		2203	4300	6503	C7orf34	SO:0001628	intergenic_variant	0			-	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636688G>T		Somatic	0	23	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	B2RBV4|Q96RS8|Q99885	Silent	SNP							NULL	p.G15	ENST00000355265.2	37	c.45	CCDS34766.1	7																																																																																			-	NULL		0.637	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf34	protein_coding	OTTHUMT00000347671.2	G	NM_000420	-		142636688	1	no_errors	ENST00000409607	ensembl	human	known	74_37	silent	SNP	0.014	T	T	142636688	G	T	142636688	1	4	209	0	1	0	0	0	0	0	0	0	2391	1219	43	3		3	C7orf34	7	142636688	IGR	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	12266645	142636688	16501975	41	17134											
CASP2	835	genome.wustl.edu	37	chr7	142991867	142991867	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgaccagactgcacagGtacctgaggtgggaaaaatt	12	7	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr7:142991867G>T	ENST00000310447.5	+	6	988		c.e6+1		CASP2_ENST00000493642.1_Splice_Site	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase						aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GACTGCACAGGTACCTGAGGT	0.473																																																	0								ENSG00000106144						64	54	57					7																	142991867		2203	4300	6503	CASP2	SO:0001630	splice_region_variant	0			-	HGNC	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.747+1G>T	7.37:g.142991867G>T		Somatic	0	74	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Splice_Site	SNP							-	e6+1	ENST00000310447.5	37	c.747+1	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687330	0.68157	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.069	0.97712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASP2	142701989	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.755000	0.91646	2.820000	0.97059	0.650000	0.86243	.	-	-		0.473	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	protein_coding	OTTHUMT00000059962.3	G	NM_032982	-	Intron	142991867	1	no_errors	ENST00000310447	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	142991867	G	T	142991867	5	4	209	1	0	0	0	0	0	0	1	0	2673	1275	44	3	770	3	CASP2	7	142991867	Splice_Site	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	355179	142991867	16146796	42	17135											
SLC30A8	169026	genome.wustl.edu	37	chr8	118147610	118147610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtgaatgataaagctgCcaagatgtatgctttcacac	8	8	2	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr8:118147610C>A	ENST00000456015.2	+	1	44	c.44C>A	c.(43-45)gCc>gAc	p.A15D	SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000519688.1_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	15					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATAAAGCTGCCAAGATGTAT	0.418																																					Ovarian(162;1202 1922 6011 16223 52092)												0								ENSG00000164756						210	199	203					8																	118147610		2203	4299	6502	SLC30A8	SO:0001583	missense	0			-	HGNC		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.44C>A	8.37:g.118147610C>A	ENSP00000415011:p.Ala15Asp	Somatic	0	26	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	72	15.29	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP							pfam_Cation_efflux,tigrfam_Cation_efflux	p.A15D	ENST00000456015.2	37	c.44	CCDS6322.1	8	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535905	0.27475	.	.	ENSG00000164756	ENST00000456015	T	0.67865	-0.29	5.64	4.77	0.60923	.	0.390908	0.25114	N	0.033038	T	0.43634	0.1256	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28618	-1.0038	10	0.24483	T	0.36	-14.3176	9.9637	0.41712	0.0:0.8403:0.0:0.1597	.	15	Q8IWU4	ZNT8_HUMAN	D	15	ENSP00000415011:A15D	ENSP00000415011:A15D	A	+	2	0	SLC30A8	118216791	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	2.212000	0.42835	1.389000	0.46526	0.655000	0.94253	GCC	-	NULL		0.418	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	protein_coding	OTTHUMT00000381205.1	C	NM_173851	-		118147610	1	no_errors	ENST00000456015	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118147610	C	A	118147610	3	1	209	1	0	0	0	0	1	0	0	0	14569	739	26	3	46	3	SLC30A8	8	118147610	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		118147610	28216412	43	17136											
ASAP1	50807	genome.wustl.edu	37	chr8	131414143	131414143	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactcaccgattccatagtGaatctctcgacgaaaaactg	6	12	3	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr8:131414143G>T	ENST00000518721.1	-	2	274	c.47C>A	c.(46-48)tCa>tAa	p.S16*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.S16*|ASAP1_ENST00000520625.1_5'UTR	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	16					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATTCCATAGTGAATCTCTCGA	0.493																																																	0								ENSG00000153317						79	77	78					8																	131414143		2203	4300	6503	ASAP1	SO:0001587	stop_gained	0			-	HGNC	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.47C>A	8.37:g.131414143G>T	ENSP00000429900:p.Ser16*	Somatic	0	35	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RNV3	Nonsense_Mutation	SNP							pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.S16*	ENST00000518721.1	37	c.47	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	G	41	9.059190	0.99051	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	.	.	.	6.03	6.03	0.97812	.	0.221918	0.29493	N	0.011995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	18.0535	0.89357	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000344591:S16X	S	-	2	0	ASAP1	131483325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.003000	0.70701	2.868000	0.98415	0.555000	0.69702	TCA	-	NULL		0.493	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	protein_coding	OTTHUMT00000380170.1	G	NM_018482	-		131414143	-1	no_errors	ENST00000357668	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	131414143	G	T	131414143	4	4	209	1	0	0	0	0	0	1	0	0	1010	1294	45	3	3458	3	ASAP1	8	131414143	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	13266533	131414143	14949879	44	17137											
BAT2L1	84726	genome.wustl.edu	37	chr9	134350137	134350137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggcagttgggatgttaGccaccagccagagaccgctg	15	10	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr9:134350137G>T	ENST00000357304.4	+	15	2676	c.2621G>T	c.(2620-2622)aGc>aTc	p.S874I	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	874							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGGATGTTAGCCACCAGCCA	0.592																																																	0								ENSG00000130723						18	20	19					9																	134350137		2030	4194	6224	PRRC2B	SO:0001583	missense	0			-	HGNC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2621G>T	9.37:g.134350137G>T	ENSP00000349856:p.Ser874Ile	Somatic	0	35	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP							pfam_BAT2_N	p.S874I	ENST00000357304.4	37	c.2621	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167241	0.21621	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.09630	2.96;2.96	5.7	3.87	0.44632	.	.	.	.	.	T	0.09069	0.0224	N	0.14661	0.345	0.19300	N	0.99998	P;P	0.46220	0.874;0.8	P;B	0.48141	0.568;0.143	T	0.23976	-1.0173	9	0.32370	T	0.25	.	7.5054	0.27542	0.1452:0.1352:0.7196:0.0	.	170;874	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	I	874;170;143	ENSP00000349856:S874I;ENSP00000400608:S143I	ENSP00000349856:S874I	S	+	2	0	PRRC2B	133339958	0.132000	0.22450	0.027000	0.17364	0.868000	0.49771	0.872000	0.28037	0.768000	0.33290	0.655000	0.94253	AGC	-	NULL		0.592	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		G		-		134350137	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	SNP	0.010	T	T	134350137	G	T	134350137	3	4	209	1	0	0	0	0	1	0	0	0	1320	971	34	3	2679	3	BAT2L1	9	134350137	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		134350137	6863294	45	17138											
ADARB2	105	genome.wustl.edu	37	chr10	1313200	1313200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggcgggcgtgcatgggcGtgaggtccgtcgtcacctcg	17	11	1	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr10:1313200G>A	ENST00000381312.1	-	4	1467	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	381					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCATGGGCGTGAGGTCCGT	0.552																																																	0								ENSG00000185736						102	80	87					10																	1313200		2203	4300	6503	ADARB2	SO:0001583	missense	0			-	HGNC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1142C>T	10.37:g.1313200G>A	ENSP00000370713:p.Thr381Met	Somatic	0	45	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	16	56.76	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP							pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.T381M	ENST00000381312.1	37	c.1142	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667346	0.29604	.	.	ENSG00000185736	ENST00000381312	T	0.24350	1.86	5.42	4.52	0.55395	Adenosine deaminase/editase (1);	0.487597	0.23724	N	0.045194	T	0.42426	0.1202	M	0.66939	2.045	0.26398	N	0.976477	D	0.60160	0.987	P	0.55260	0.772	T	0.37009	-0.9724	10	0.66056	D	0.02	-8.9961	14.4261	0.67218	0.0711:0.0:0.9289:0.0	.	381	Q9NS39	RED2_HUMAN	M	381	ENSP00000370713:T381M	ENSP00000370713:T381M	T	-	2	0	ADARB2	1303200	0.979000	0.34478	0.040000	0.18447	0.008000	0.06430	2.505000	0.45424	1.300000	0.44818	-0.333000	0.08304	ACG	-	smart_A_deamin		0.552	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	protein_coding	OTTHUMT00000046426.1	G	NM_018702	-		1313200	-1	no_errors	ENST00000381312	ensembl	human	known	74_37	missense	SNP	0.034	A	A	1313200	G	A	1313200	3	1	209	1	0	0	0	0	1	0	0	0	283	1145	40	1	1105	1	ADARB2	10	1313200	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		1313200	134221547	46	17139											
PCDH15	65217	genome.wustl.edu	37	chr10	55569141	55569141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgattcctcttttatcagCtaatcctctaactttcttaa	2	11	4	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr10:55569141C>A	ENST00000395445.1	-	36	5063	c.4669G>T	c.(4669-4671)Gct>Tct	p.A1557S	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.A422S|PCDH15_ENST00000395446.1_Missense_Mutation_p.A753S|PCDH15_ENST00000395440.1_Missense_Mutation_p.A491S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				CTTTTATCAGCTAATCCTCTA	0.418										HNSCC(58;0.16)																																							0								ENSG00000150275						163	146	151					10																	55569141		1568	3582	5150	PCDH15	SO:0001583	missense	0			-	HGNC	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	ENST00000395445.1:c.4669G>T	10.37:g.55569141C>A	ENSP00000378832:p.Ala1557Ser	Somatic	0	45	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A1557S	ENST00000395445.1	37	c.4669		10	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512741	0.44660	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.66815	-0.13;-0.23;0.09;-0.04	5.88	5.88	0.94601	.	.	.	.	.	T	0.54046	0.1834	N	0.14661	0.345	0.80722	D	1	B;B	0.31318	0.319;0.319	B;B	0.31751	0.135;0.135	T	0.56220	-0.8015	9	0.54805	T	0.06	.	18.001	0.89197	0.0:1.0:0.0:0.0	.	1555;1557	C6ZEF5;A2A3E2	.;.	S	1557;753;422;491	ENSP00000378832:A1557S;ENSP00000378833:A753S;ENSP00000378829:A422S;ENSP00000378827:A491S	ENSP00000378827:A491S	A	-	1	0	PCDH15	55239147	0.743000	0.28239	0.639000	0.29394	0.052000	0.14988	2.076000	0.41548	2.778000	0.95560	0.655000	0.94253	GCT	-	NULL		0.418	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	protein_coding	OTTHUMT00000291335.1	C	NM_033056	-		55569141	-1	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	SNP	0.978	A	A	55569141	C	A	55569141	3	1	209	1	0	0	0	0	1	0	0	0	11513	797	28	3	1247	3	PCDH15	10	55569141	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	54255941	55569141	79965606	47	17140											
SUPV3L1	6832	genome.wustl.edu	37	chr10	70968644	70968644	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttgcttccagattggtGcagcaaggactcctcactcc	8	15	1	1	rs141290422		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr10:70968644G>T	ENST00000359655.4	+	15	2274	c.2214G>T	c.(2212-2214)gtG>gtT	p.V738V		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	738	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGATTGGTGCAGCAAGGAC	0.512																																																	0								ENSG00000156502						72	64	66					10																	70968644		2203	4300	6503	SUPV3L1	SO:0001819	synonymous_variant	0			-	HGNC	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2214G>T	10.37:g.70968644G>T		Somatic	0	29	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K301|O43630	Silent	SNP							pfam_SUV3_C,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	p.V738	ENST00000359655.4	37	c.2214	CCDS7287.1	10																																																																																			-	NULL		0.512	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	protein_coding	OTTHUMT00000048396.2	G	NM_003171	-		70968644	1	no_errors	ENST00000359655	ensembl	human	known	74_37	silent	SNP	1.000	T	T	70968644	G	T	70968644	2	4	209	1	0	0	0	0	0	0	0	1	15409	1306	46	3		3	SUPV3L1	10	70968644	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	15399503	70968644	64566103	48	17141											
DUSP13	51207	genome.wustl.edu	37	chr10	76854531	76854531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgcggtgggcctgcaccGtctggatggcctctaccagc	13	13	2	0	rs150329504		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr10:76854531G>A	ENST00000472493.2	-	4	578	c.500C>T	c.(499-501)aCg>aTg	p.T167M	DUSP13_ENST00000605915.1_Missense_Mutation_p.T189M|DUSP13_ENST00000478873.2_Missense_Mutation_p.T303M|DUSP13_ENST00000372700.3_Missense_Mutation_p.T217M|DUSP13_ENST00000607131.1_Missense_Mutation_p.T260M|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Missense_Mutation_p.T116M|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000491677.2_Missense_Mutation_p.T296M	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	167	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCCTGCACCGTCTGGATGGC	0.607																																					NSCLC(174;1655 2059 12324 40663 42963)												0								ENSG00000079393	G	,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	101	73	82		,650,779,500	1.6	1	10	dbSNP_134	82	0,8600		0,0,4300	no	utr-3,missense,missense,missense	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1,NM_016364.3	,81,81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,probably-damaging,probably-damaging,probably-damaging	,217/249,260/292,167/199	76854531	2,13004	2203	4300	6503	DUSP13	SO:0001583	missense	0			-	HGNC	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.500C>T	10.37:g.76854531G>A	ENSP00000444580:p.Thr167Met	Somatic	0	49	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	11	56.00	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.T296M	ENST00000472493.2	37	c.887	CCDS7346.1	10	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308733	0.60305	4.54E-4	0.0	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.52	1.56	0.23342	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.452569	0.27876	N	0.017486	D	0.82751	0.5105	N	0.26042	0.785	0.26901	N	0.967107	D;D;D	0.76494	0.998;0.999;0.987	P;D;P	0.67103	0.874;0.949;0.688	T	0.72228	-0.4354	10	0.34782	T	0.22	-5.5811	5.5206	0.16931	0.1743:0.0:0.576:0.2497	.	217;296;167	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	M	167;167;296;260;116;217	ENSP00000311051:T167M;ENSP00000444580:T167M;ENSP00000436312:T296M;ENSP00000434041:T116M;ENSP00000361785:T217M	ENSP00000311051:T167M	T	-	2	0	DUSP13	76524537	0.944000	0.32072	0.994000	0.49952	0.995000	0.86356	2.308000	0.43690	0.025000	0.15241	-0.136000	0.14681	ACG	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.607	DUSP13-004	KNOWN	basic|CCDS	protein_coding	DUSP13	protein_coding	OTTHUMT00000048786.3	G		rs150329504		76854531	-1	no_errors	ENST00000491677	ensembl	human	known	74_37	missense	SNP	0.897	A	A	76854531	G	A	76854531	3	1	209	1	0	0	0	0	1	0	0	0	4815	1145	40	1	100	1	DUSP13	10	76854531	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	5885887	76854531	58680216	49	17142											
POLL	27343	genome.wustl.edu	37	chr10	103344559	103344559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccaggacagcaggggctgGgctaggctcacaatctccct	12	13	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr10:103344559G>T	ENST00000370162.3	-	5	1185	c.691C>A	c.(691-693)Cca>Aca	p.P231T	POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_Silent_p.A88A|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.P143T|POLL_ENST00000299206.4_Missense_Mutation_p.P231T|POLL_ENST00000370158.3_Intron|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.P231T|POLL_ENST00000370168.3_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	231					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCAGGGGCTGGGCTAGGCTCA	0.567								DNA polymerases (catalytic subunits)																																									0								ENSG00000166169						57	54	55					10																	103344559		2203	4300	6503	POLL	SO:0001583	missense	0			-	HGNC	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.691C>A	10.37:g.103344559G>T	ENSP00000359181:p.Pro231Thr	Somatic	0	32	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP							pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.P231T	ENST00000370162.3	37	c.691	CCDS7513.1	10	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497779	0.12762	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000426919;ENST00000413344	T;T;T;T;T;T	0.50277	2.63;2.63;2.61;2.63;1.41;0.75	5.92	5.01	0.66863	.	0.285867	0.39985	N	0.001219	T	0.39332	0.1074	L	0.60455	1.87	0.09310	N	0.999993	B	0.26195	0.144	B	0.15870	0.014	T	0.24119	-1.0169	10	0.17369	T	0.5	-36.5448	9.827	0.40919	0.0:0.3146:0.4554:0.23	.	231	Q9UGP5	DPOLL_HUMAN	T	231;231;231;143;231;231;242;231	ENSP00000299206:P231T;ENSP00000359188:P231T;ENSP00000359191:P143T;ENSP00000359181:P231T;ENSP00000411678:P242T;ENSP00000400517:P231T	ENSP00000299206:P231T	P	-	1	0	POLL	103334549	0.354000	0.24912	0.142000	0.22268	0.025000	0.11179	2.520000	0.45554	1.495000	0.48549	0.561000	0.74099	CCA	-	NULL		0.567	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	POLL	protein_coding	OTTHUMT00000049946.1	G	NM_013274	-		103344559	-1	no_errors	ENST00000299206	ensembl	human	known	74_37	missense	SNP	0.002	T	T	103344559	G	T	103344559	3	4	209	1	0	0	0	0	1	0	0	0	12207	1232	43	3	1056	3	POLL	10	103344559	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	26490028	103344559	32190188	50	17143											
PRDX3	10935	genome.wustl.edu	37	chr10	120927997	120927997	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atacacatgggtgatctactGatttaccttctgaaagtact	7	8	2	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr10:120927997G>T	ENST00000298510.2	-	7	808	c.766C>A	c.(766-768)Cag>Aag	p.Q256K	PRDX3_ENST00000356951.3_Missense_Mutation_p.Q238K|SFXN4_ENST00000330036.6_5'Flank|SFXN4_ENST00000461438.1_5'Flank|SFXN4_ENST00000355697.2_5'Flank|PRDX3_ENST00000494433.1_5'UTR	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	256					cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		GTGATCTACTGATTTACCTTC	0.368																																					Pancreas(36;562 1096 2447 42526)												0								ENSG00000165672						107	97	100					10																	120927997		2203	4300	6503	PRDX3	SO:0001583	missense	0			-	HGNC	D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"antioxidant protein 1"	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.766C>A	10.37:g.120927997G>T	ENSP00000298510:p.Gln256Lys	Somatic	0	91	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP							pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.Q256K	ENST00000298510.2	37	c.766	CCDS7611.1	10	.	.	.	.	.	.	.	.	.	.	G	4.250	0.045402	0.08196	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.11169	2.8;2.8	5.19	2.17	0.27698	Thioredoxin-like fold (1);	0.478584	0.21221	N	0.078144	T	0.02848	0.0085	N	0.00801	-1.175	0.26142	N	0.980264	B	0.02656	0.0	B	0.04013	0.001	T	0.39643	-0.9604	10	0.33141	T	0.24	-12.7321	6.1141	0.20117	0.1714:0.0:0.6247:0.2039	.	256	P30048	PRDX3_HUMAN	K	238;256	ENSP00000349432:Q238K;ENSP00000298510:Q256K	ENSP00000298510:Q256K	Q	-	1	0	PRDX3	120917987	1.000000	0.71417	0.983000	0.44433	0.889000	0.51656	1.079000	0.30766	0.703000	0.31848	0.561000	0.74099	CAG	-	superfamily_Thioredoxin-like_fold		0.368	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX3	protein_coding	OTTHUMT00000050639.1	G	NM_006793	-		120927997	-1	no_errors	ENST00000298510	ensembl	human	known	74_37	missense	SNP	0.995	T	T	120927997	G	T	120927997	3	4	209	1	0	0	0	0	1	0	0	0	12471	1299	45	3	8	3	PRDX3	10	120927997	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	17583438	120927997	14606750	51	17144											
MUC2	4583	genome.wustl.edu	37	chr11	1096490	1096490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgatcccaacgacaaggtgtCctgtccccgcaccctcatcg	8	18	1	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:1096490C>A	ENST00000441003.2	+	34	6542	c.6515C>A	c.(6514-6516)tCc>tAc	p.S2172Y	MUC2_ENST00000361558.6_Missense_Mutation_p.S310Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4534					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACAAGGTGTCCTGTCCCCGC	0.597																																																	0								ENSG00000198788						105	117	113					11																	1096490		2184	4266	6450	MUC2	SO:0001583	missense	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6515C>A	11.37:g.1096490C>A	ENSP00000415183:p.Ser2172Tyr	Somatic	0	49	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q14878	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2172Y	ENST00000441003.2	37	c.6515		11	.	.	.	.	.	.	.	.	.	.	c	18.59	3.656964	0.67586	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.61040	0.14;0.14	3.95	3.02	0.34903	.	.	.	.	.	T	0.75110	0.3805	M	0.79805	2.47	0.31441	N	0.671975	D	0.76494	0.999	D	0.77557	0.99	T	0.77349	-0.2621	9	0.87932	D	0	.	11.9496	0.52948	0.0:0.9128:0.0:0.0872	.	2172	E7EUV1	.	Y	2172;310	ENSP00000415183:S2172Y;ENSP00000354885:S310Y	ENSP00000354885:S310Y	S	+	2	0	MUC2	1086490	1.000000	0.71417	0.972000	0.41901	0.877000	0.50540	7.361000	0.79497	0.830000	0.34757	0.479000	0.44913	TCC	-	pfam_VWF_type-D,smart_VWF_type-D		0.597	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	C	NM_002457	-		1096490	1	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1096490	C	A	1096490	3	1	209	1	0	0	0	0	1	0	0	0	9977	855	30	3	6641	3	MUC2	11	1096490	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		1096490	133910026	52	17145											
MUC5B	727897	genome.wustl.edu	37	chr11	1267347	1267347	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccttgggaccaccgggacCctcccagaacagaccaccac	8	19	0	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:1267347C>A	ENST00000529681.1	+	31	9295	c.9237C>A	c.(9235-9237)acC>acA	p.T3079T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3082T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3079	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		CCACCGGGACCCTCCCAGAAC	0.607																																																	0								ENSG00000117983						154	174	167					11																	1267347		2100	4197	6297	MUC5B	SO:0001819	synonymous_variant	0			-	HGNC	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.9237C>A	11.37:g.1267347C>A		Somatic	0	75	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T3082	ENST00000529681.1	37	c.9246	CCDS44515.2	11																																																																																			-	NULL		0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093	-		1267347	1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	SNP	0.031	A	A	1267347	C	A	1267347	2	1	209	1	0	0	0	0	0	0	0	1	9981	610	22	3		3	MUC5B	11	1267347	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	170857	1267347	133739169	53	17146											
TRIM34	53840	genome.wustl.edu	37	chr11	5655947	5655947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaggagcagagagagctGcaaagattggaagaagaaga	15	3	0	7			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:5655947G>A	ENST00000514226.1	+	4	943	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM34_ENST00000429814.2_Silent_p.L202L|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L556L|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Silent_p.L202L	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	202					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGAGCTGCAAAGATTGG	0.438																																																	0								ENSG00000258588						80	74	76					11																	5655947		2201	4297	6498	TRIM6-TRIM34	SO:0001819	synonymous_variant	0			-	HGNC	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.606G>A	11.37:g.5655947G>A		Somatic	0	51	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Silent	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L556	ENST00000514226.1	37	c.1668	CCDS31391.1	11																																																																																			-	NULL		0.438	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	protein_coding	OTTHUMT00000143357.2	G	NM_001003827	-		5655947	1	no_errors	ENST00000354852	ensembl	human	known	74_37	silent	SNP	0.017	A	A	5655947	G	A	5655947	2	1	209	1	0	0	0	0	0	0	0	1	16515	1306	46	2		2	TRIM34	11	5655947	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	4388600	5655947	129350569	54	17147											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16838747	16838747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagtcacttggcaggtttCggggaggtggcgaggagccc	18	8	1	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:16838747C>T	ENST00000355661.3	-	11	1476	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R489Q|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R489Q|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	489					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGCAGGTTTCGGGGAGGTGG	0.642																																																	0								ENSG00000166689						62	70	68					11																	16838747		2200	4294	6494	PLEKHA7	SO:0001583	missense	0			-	HGNC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1466G>A	11.37:g.16838747C>T	ENSP00000347883:p.Arg489Gln	Somatic	0	75	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.R489Q	ENST00000355661.3	37	c.1466	CCDS31434.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159224|3.159224	0.57368|0.57368	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.06768	.|3.26;3.26;3.26	4.97|4.97	4.05|4.05	0.47172|0.47172	.|.	.|0.495687	.|0.22213	.|N	.|0.063064	T|T	0.06826|0.06826	0.0174|0.0174	L|L	0.43923|0.43923	1.385|1.385	0.47308|0.47308	D|D	0.999382|0.999382	.|B;P;P;P	.|0.49862	.|0.418;0.883;0.911;0.929	.|B;B;B;B	.|0.33750	.|0.028;0.117;0.097;0.169	T|T	0.36335|0.36335	-0.9752|-0.9752	5|10	.|0.38643	.|T	.|0.18	-19.3802|-19.3802	12.7035|12.7035	0.57046|0.57046	0.0:0.9204:0.0:0.0796|0.0:0.9204:0.0:0.0796	.|.	.|63;489;489;489	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	K|Q	120|489	.|ENSP00000435389:R489Q;ENSP00000347883:R489Q;ENSP00000416895:R489Q	.|ENSP00000347883:R489Q	E|R	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16795323|16795323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	3.614000|3.614000	0.54160|0.54160	2.311000|2.311000	0.77944|0.77944	0.462000|0.462000	0.41574|0.41574	GAA|CGA	-	NULL		0.642	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	protein_coding	OTTHUMT00000387242.2	C	NM_175058	-		16838747	-1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16838747	C	T	16838747	3	4	209	1	0	0	0	0	1	0	0	0	12063	884	31	1	1951	1	PLEKHA7	11	16838747	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	11182800	16838747	118167769	55	17148											
OR10Q1	219960	genome.wustl.edu	37	chr11	57996225	57996225	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgtgttgccacagaggatCatcaagtagaggaggaggaa	15	6	2	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:57996225C>T	ENST00000316770.2	-	1	165	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CACAGAGGATCATCAAGTAGA	0.527																																																	0								ENSG00000180475						114	122	119					11																	57996225		2200	4294	6494	OR10Q1	SO:0001583	missense	0			-	HGNC	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.123G>A	11.37:g.57996225C>T	ENSP00000314324:p.Met41Ile	Somatic	0	41	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	5	80.77	Q6IFG4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M41I	ENST00000316770.2	37	c.123	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779975	0.16120	.	.	ENSG00000180475	ENST00000316770	T	0.00392	7.58	5.28	2.25	0.28309	.	0.123417	0.36555	N	0.002525	T	0.00178	0.0005	N	0.13168	0.305	0.09310	N	1	B	0.34181	0.44	B	0.30646	0.118	T	0.31558	-0.9939	10	0.10377	T	0.69	.	11.4267	0.50015	0.136:0.3334:0.5306:0.0	.	41	Q8NGQ4	O10Q1_HUMAN	I	41	ENSP00000314324:M41I	ENSP00000314324:M41I	M	-	3	0	OR10Q1	57752801	0.000000	0.05858	0.013000	0.15412	0.626000	0.37791	-0.168000	0.09925	0.305000	0.22832	0.650000	0.86243	ATG	-	prints_GPCR_Rhodpsn		0.527	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	protein_coding	OTTHUMT00000394706.1	C	NM_001004471	-		57996225	-1	no_errors	ENST00000316770	ensembl	human	known	74_37	missense	SNP	0.003	T	T	57996225	C	T	57996225	3	4	209	1	0	0	0	0	1	0	0	0	10918	826	29	2	840	2	OR10Q1	11	57996225	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	41157478	57996225	77010291	56	17149											
DPP3	10072	genome.wustl.edu	37	chr11	66272210	66272210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcgtaaggaatctcGgaagctcattgttcagccca	11	11	3	0	rs200822369		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:66272210G>T	ENST00000360510.2	+	17	2071	c.2006G>T	c.(2005-2007)cGg>cTg	p.R669L	DPP3_ENST00000531863.1_Missense_Mutation_p.R689L|DPP3_ENST00000532677.1_Missense_Mutation_p.R688L|DPP3_ENST00000541961.1_Missense_Mutation_p.R669L|DPP3_ENST00000530165.1_Missense_Mutation_p.R639L|DPP3_ENST00000453114.1_Missense_Mutation_p.R669L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	669					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						AAGGAATCTCGGAAGCTCATT	0.592																																																	0								ENSG00000254986						124	108	113					11																	66272210		2200	4295	6495	DPP3	SO:0001583	missense	0			-	HGNC	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.2006G>T	11.37:g.66272210G>T	ENSP00000353701:p.Arg669Leu	Somatic	0	58	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP							pirsf_Dipeptidyl-peptase3	p.R669L	ENST00000360510.2	37	c.2006	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.277569	0.95459	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70296	-0.4911	10	0.33141	T	0.24	.	16.8871	0.86078	0.0:0.0:1.0:0.0	.	688;669	G3V1D3;Q9NY33	.;DPP3_HUMAN	L	689;688;669;669;669;639;567;249	ENSP00000432782:R689L;ENSP00000435284:R688L;ENSP00000353701:R669L;ENSP00000389943:R669L;ENSP00000440502:R669L;ENSP00000436941:R639L	ENSP00000309957:R249L	R	+	2	0	DPP3	66028786	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.402000	0.90205	2.608000	0.88229	0.543000	0.68304	CGG	-	pirsf_Dipeptidyl-peptase3		0.592	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	G		-		66272210	1	no_errors	ENST00000360510	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66272210	G	T	66272210	3	4	209	1	0	0	0	0	1	0	0	0	4730	1116	39	3	2068	3	DPP3	11	66272210	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	8275985	66272210	68734306	57	17150											
CTTN	2017	genome.wustl.edu	37	chr11	70281823	70281823	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgggaaatctgcctatGtcataccgtgacagcccgca	10	12	2	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:70281823G>A	ENST00000301843.8	+	0	2414				CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000538675.1_Missense_Mutation_p.C305Y|CTTN_ENST00000376561.3_Missense_Mutation_p.C584Y	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATCTGCCTATGTCATACCGTG	0.562																																																	0								ENSG00000085733						39	36	37					11																	70281823		873	1985	2858	CTTN	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.*555G>A	11.37:g.70281823G>A		Somatic	0	105	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	56	37.08	Q8N707|Q96H99	Missense_Mutation	SNP							pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.C305Y	ENST00000301843.8	37	c.914	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	G	4.729	0.135612	0.09032	.	.	ENSG00000085733	ENST00000376561;ENST00000538675	T;T	0.36157	1.27;1.49	3.73	-7.46	0.01369	.	.	.	.	.	T	0.13927	0.0337	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	0.28396	-1.0045	9	0.87932	D	0	.	2.4196	0.04445	0.1091:0.3516:0.274:0.2653	.	305;584	B4E358;Q8N707	.;.	Y	584;305	ENSP00000365745:C584Y;ENSP00000439762:C305Y	ENSP00000365745:C584Y	C	+	2	0	CTTN	69959471	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.776000	0.04674	-4.185000	0.00066	-0.181000	0.13052	TGT	-	NULL		0.562	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	protein_coding	OTTHUMT00000259233.2	G	NM_138565	-		70281823	1	no_errors	ENST00000538675	ensembl	human	known	74_37	missense	SNP	0.000	A	A	70281823	G	A	70281823	1	1	209	0	1	0	0	0	0	0	0	0	4046	1377	48	2		2	CTTN	11	70281823	3'UTR	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	4009613	70281823	64724693	58	17151											
USP28	57646	genome.wustl.edu	37	chr11	113711444	113711444	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttcacagcgttttctctttGagcgtttagtttctgcagag	9	9	3	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:113711444G>T	ENST00000003302.4	-	5	478	c.410C>A	c.(409-411)tCa>tAa	p.S137*	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Nonsense_Mutation_p.S137*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S137*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S12*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	137					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTTTCTCTTTGAGCGTTTAGT	0.428																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0								ENSG00000048028						114	98	103					11																	113711444		2201	4296	6497	USP28	SO:0001587	stop_gained	0			-	HGNC	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.410C>A	11.37:g.113711444G>T	ENSP00000003302:p.Ser137*	Somatic	0	65	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP							pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.S137*	ENST00000003302.4	37	c.410	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.750612	0.96890	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	5.75	5.75	0.90469	.	0.118599	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-11.9303	19.5331	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	X	137;137;12;137;65	.	ENSP00000003302:S137X	S	-	2	0	USP28	113216654	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.526000	0.53509	2.701000	0.92244	0.585000	0.79938	TCA	-	NULL		0.428	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	protein_coding	OTTHUMT00000398789.1	G		-		113711444	-1	no_errors	ENST00000003302	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	113711444	G	T	113711444	4	4	209	1	0	0	0	0	0	1	0	0	17065	1294	45	3	2907	3	USP28	11	113711444	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	43429621	113711444	21295072	59	17152											
CD3G	917	genome.wustl.edu	37	chr11	118222368	118222368	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaagcagactctgttgccCaatgaccagctctaccaggt	9	13	2	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:118222368C>A	ENST00000532917.1	+	5	533	c.465C>A	c.(463-465)ccC>ccA	p.P155P	CD3G_ENST00000392883.2_Silent_p.P51P|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	155	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CTCTGTTGCCCAATGACCAGC	0.398																																																	0								ENSG00000160654						157	152	154					11																	118222368		2200	4296	6496	CD3G	SO:0001819	synonymous_variant	0			-	HGNC	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.465C>A	11.37:g.118222368C>A		Somatic	0	56	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q2HIZ6	Silent	SNP							pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.P155	ENST00000532917.1	37	c.465	CCDS8395.1	11																																																																																			-	pfscan_Phos_immunorcpt_sig_ITAM		0.398	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3G	protein_coding	OTTHUMT00000392135.1	C	NM_000073	-		118222368	1	no_errors	ENST00000532917	ensembl	human	known	74_37	silent	SNP	0.989	A	A	118222368	C	A	118222368	2	1	209	1	0	0	0	0	0	0	0	1	3015	581	21	3		3	CD3G	11	118222368	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	4510924	118222368	16784148	60	17153											
PUS3	83480	genome.wustl.edu	37	chr11	125765477	125765477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacgagggaaaaaatagcGgtaagtccgctcaaggcagc	13	9	1	0	rs370110541		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:125765477G>T	ENST00000530811.1	-	2	631	c.586C>A	c.(586-588)Cgc>Agc	p.R196S	HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.R196S|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	196					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AAAAAATAGCGGTAAGTCCGC	0.468																																																	0								ENSG00000110060						63	66	65					11																	125765477		2201	4299	6500	PUS3	SO:0001583	missense	0			-	HGNC	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.586C>A	11.37:g.125765477G>T	ENSP00000432386:p.Arg196Ser	Somatic	0	40	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP							pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.R196S	ENST00000530811.1	37	c.586	CCDS8466.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245073	0.79912	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.56776	0.44;0.44	5.97	5.97	0.96955	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.79805	2.47	0.80722	D	1	P	0.51449	0.945	P	0.48454	0.578	T	0.71279	-0.4640	10	0.72032	D	0.01	-3.6941	20.4135	0.99023	0.0:0.0:1.0:0.0	.	196	Q9BZE2	PUS3_HUMAN	S	196	ENSP00000227474:R196S;ENSP00000432386:R196S	ENSP00000227474:R196S	R	-	1	0	PUS3	125270687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.368000	0.79567	2.835000	0.97688	0.591000	0.81541	CGC	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA		0.468	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS3	protein_coding	OTTHUMT00000386783.1	G	NM_031307	-		125765477	-1	no_errors	ENST00000227474	ensembl	human	known	74_37	missense	SNP	1.000	T	T	125765477	G	T	125765477	3	4	209	1	0	0	0	0	1	0	0	0	12840	1116	39	3	867	3	PUS3	11	125765477	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	7543109	125765477	9241039	61	17154											
CDON	50937	genome.wustl.edu	37	chr11	125831755	125831755	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcaactggccacaatcaggGactgcggaagtcaggcatac	13	11	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr11:125831755G>T	ENST00000392693.3	-	19	3622	c.3495C>A	c.(3493-3495)gtC>gtA	p.V1165V	CDON_ENST00000263577.7_Silent_p.V1165V|CDON_ENST00000531738.1_Silent_p.V542V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1165					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)		CACAATCAGGGACTGCGGAAG	0.547																																																	0								ENSG00000064309						96	77	83					11																	125831755		2201	4299	6500	CDON	SO:0001819	synonymous_variant	0			-	HGNC	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.3495C>A	11.37:g.125831755G>T		Somatic	0	28	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	O14631	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1165	ENST00000392693.3	37	c.3495	CCDS58192.1	11																																																																																			-	NULL		0.547	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	G	NM_016952	-		125831755	-1	no_errors	ENST00000392693	ensembl	human	known	74_37	silent	SNP	0.755	T	T	125831755	G	T	125831755	2	4	209	1	0	0	0	0	0	0	0	1	3172	1161	41	3		3	CDON	11	125831755	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	66278	125831755	9174761	62	17155											
GPR19	2842	genome.wustl.edu	37	chr12	12815222	12815222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcacatagtgaaggtctGtttggttgctcatccaactg	10	9	3	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr12:12815222G>T	ENST00000540510.1	-	2	353	c.161C>A	c.(160-162)aCa>aAa	p.T54K	GPR19_ENST00000332427.2_Missense_Mutation_p.T54K			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTGAAGGTCTGTTTGGTTGCT	0.507																																																	0								ENSG00000183150						163	150	155					12																	12815222		2203	4300	6503	GPR19	SO:0001583	missense	0			-	HGNC		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.161C>A	12.37:g.12815222G>T	ENSP00000441832:p.Thr54Lys	Somatic	0	76	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T54K	ENST00000540510.1	37	c.161	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165345	0.21538	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.54071	0.59;0.59	5.28	5.28	0.74379	.	0.072136	0.51477	D	0.000096	T	0.38348	0.1037	N	0.19112	0.55	0.19300	N	0.999971	B	0.12630	0.006	B	0.15052	0.012	T	0.22312	-1.0220	10	0.39692	T	0.17	-17.1782	13.6594	0.62357	0.0:0.0:0.8454:0.1546	.	54	Q15760	GPR19_HUMAN	K	54	ENSP00000441832:T54K;ENSP00000333744:T54K	ENSP00000333744:T54K	T	-	2	0	GPR19	12706489	0.998000	0.40836	0.035000	0.18076	0.003000	0.03518	5.789000	0.69029	2.744000	0.94065	0.655000	0.94253	ACA	-	NULL		0.507	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	protein_coding	OTTHUMT00000400662.1	G	NM_006143	-		12815222	-1	no_errors	ENST00000332427	ensembl	human	known	74_37	missense	SNP	0.140	T	T	12815222	G	T	12815222	3	4	209	1	0	0	0	0	1	0	0	0	6681	1377	48	3	1090	3	GPR19	12	12815222	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		12815222	121036673	63	17156											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21028281	21028281	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataccattttttttcttgccGaaaaatccaaataaaccaca	2	10	1	0	rs555631927		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr12:21028281G>A	ENST00000381545.3	+	9	1059	c.840G>A	c.(838-840)ccG>ccA	p.P280P	SLCO1B3_ENST00000553473.1_Silent_p.P280P|SLCO1B3_ENST00000261196.2_Silent_p.P280P|LST3_ENST00000540229.1_Silent_p.P280P|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	280					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.P280P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTCTTGCCGAAAAATCCAA	0.358													.|||	1	0.000199681	0	0	5008	,	,		16452	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	lung(1)						ENSG00000111700						115	112	113					12																	21028281		2203	4300	6503	SLCO1B3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.840G>A	12.37:g.21028281G>A		Somatic	0	74	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	E7EMT8|Q5JAR4	Silent	SNP							pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P280	ENST00000381545.3	37	c.840	CCDS8684.1	12																																																																																			-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	protein_coding	OTTHUMT00000401936.1	G	NM_019844	-		21028281	1	no_errors	ENST00000553473	ensembl	human	known	74_37	silent	SNP	0.016	A	A	21028281	G	A	21028281	2	1	209	1	0	0	0	0	0	0	0	1	14732	1045	37	1		1	SLCO1B3	12	21028281	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	8213059	21028281	112823614	64	17157											
KRT77	374454	genome.wustl.edu	37	chr12	53086400	53086400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctctctcctcagcatccGaaatgagtgactgcatctgt	8	14	3	2	rs201690097		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr12:53086400G>A	ENST00000341809.3	-	7	1260	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	KRT77_ENST00000537195.1_Missense_Mutation_p.S178L|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	411	Coil 2.|Rod.					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						CTCAGCATCCGAAATGAGTGA	0.572													G|||	1	0.000199681	0	0.0014	5008	,	,		21686	0		0	False		,,,				2504	0																0								ENSG00000189182	G	LEU/SER	0,4404		0,0,2202	50	45	46		1232	2.6	0.1	12		46	2,8534	2.2+/-6.3	1,0,4267	yes	missense	KRT77	NM_175078.2	145	1,0,6469	AA,AG,GG		0.0234,0.0,0.0155	benign	411/579	53086400	2,12938	2202	4268	6470	KRT77	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.1232C>T	12.37:g.53086400G>A	ENSP00000342710:p.Ser411Leu	Somatic	0	39	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	11	54.17	Q7RTS8	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S411L	ENST00000341809.3	37	c.1232	CCDS8837.1	12	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.63	1.402766	0.25291	0.0	2.34E-4	ENSG00000189182	ENST00000341809;ENST00000537195	T;D	0.83837	-0.96;-1.77	4.47	2.57	0.30868	Filament (1);	.	.	.	.	T	0.78541	0.4299	L	0.45698	1.435	0.23043	N	0.998387	B	0.28584	0.216	B	0.32928	0.155	T	0.69465	-0.5138	9	0.87932	D	0	.	9.6207	0.39719	0.079:0.1424:0.7786:0.0	.	411	Q7Z794	K2C1B_HUMAN	L	411;178	ENSP00000342710:S411L;ENSP00000440803:S178L	ENSP00000342710:S411L	S	-	2	0	KRT77	51372667	0.875000	0.30112	0.149000	0.22428	0.095000	0.18619	4.604000	0.61112	0.432000	0.26286	0.400000	0.26472	TCG	-	pfam_IF		0.572	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT77	protein_coding	OTTHUMT00000404111.1	G	NM_175078	rs201690097		53086400	-1	no_errors	ENST00000341809	ensembl	human	known	74_37	missense	SNP	0.560	A	A	53086400	G	A	53086400	3	1	209	1	0	0	0	0	1	0	0	0	8492	1059	37	1	516	1	KRT77	12	53086400	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	32058119	53086400	80765495	65	17158											
PA2G4	5036	genome.wustl.edu	37	chr12	56505265	56505265	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttcctgttttccaggccctCctccagagttctgcaagtcg	8	15	1	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr12:56505265C>A	ENST00000303305.6	+	12	1490	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	357	Necessary for nucleolar localization.				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)			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)			TCCAGGCCCTCCTCCAGAGTT	0.398																																																	0								ENSG00000170515						105	110	108					12																	56505265		2202	4299	6501	PA2G4	SO:0001819	synonymous_variant	0			-	HGNC	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.1071C>A	12.37:g.56505265C>A		Somatic	0	45	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O43846|Q9UM59	Silent	SNP							pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.L357	ENST00000303305.6	37	c.1071	CCDS8902.1	12																																																																																			-	tigrfam_Pap_1		0.398	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	protein_coding	OTTHUMT00000407767.1	C	NM_006191	-		56505265	1	no_errors	ENST00000303305	ensembl	human	known	74_37	silent	SNP	1.000	A	A	56505265	C	A	56505265	2	1	209	1	0	0	0	0	0	0	0	1	11363	842	30	3		3	PA2G4	12	56505265	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	3418865	56505265	77346630	66	17159											
FZD10	11211	genome.wustl.edu	37	chr12	130649050	130649050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggatcaccagcgggatgtgGatttggacctccaagactct	13	10	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr12:130649050G>T	ENST00000229030.4	+	1	2047	c.1563G>T	c.(1561-1563)tgG>tgT	p.W521C	FZD10_ENST00000539839.1_3'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	521					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCGGGATGTGGATTTGGACCT	0.582																																																	0								ENSG00000111432						41	43	42					12																	130649050		2203	4300	6503	FZD10	SO:0001583	missense	0			-	HGNC	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1563G>T	12.37:g.130649050G>T	ENSP00000229030:p.Trp521Cys	Somatic	0	78	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.W521C	ENST00000229030.4	37	c.1563	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060296	0.55432	.	.	ENSG00000111432	ENST00000229030	D	0.91464	-2.85	4.87	4.87	0.63330	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.97009	0.9023	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98539	1.0631	10	0.87932	D	0	.	18.0183	0.89248	0.0:0.0:1.0:0.0	.	521	Q9ULW2	FZD10_HUMAN	C	521	ENSP00000229030:W521C	ENSP00000229030:W521C	W	+	3	0	FZD10	129215003	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	9.638000	0.98445	2.236000	0.73375	0.561000	0.74099	TGG	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.582	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	protein_coding		G		-		130649050	1	no_errors	ENST00000229030	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130649050	G	T	130649050	3	4	209	1	0	0	0	0	1	0	0	0	6131	1183	41	3	1565	3	FZD10	12	130649050	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	74143785	130649050	3202845	67	17160											
GPR12	2835	genome.wustl.edu	37	chr13	27333536	27333536	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatggtacgtcagagcgtaGtacagtgagaggtagcggtc	16	6	1	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr13:27333536G>T	ENST00000381436.2	-	1	891	c.429C>A	c.(427-429)taC>taA	p.Y143*	GPR12_ENST00000405846.3_Nonsense_Mutation_p.Y143*			P47775	GPR12_HUMAN	G protein-coupled receptor 12	143					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCAGAGCGTAGTACAGTGAGA	0.572																																																	0								ENSG00000132975						106	89	95					13																	27333536		2203	4300	6503	GPR12	SO:0001587	stop_gained	0			-	HGNC	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.429C>A	13.37:g.27333536G>T	ENSP00000370844:p.Tyr143*	Somatic	0	47	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q5T8P3	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.Y143*	ENST00000381436.2	37	c.429	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.646163	0.96704	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	.	.	.	5.36	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2982	0.43637	0.5703:0.0:0.4297:0.0	.	.	.	.	X	143	.	ENSP00000370844:Y143X	Y	-	3	2	GPR12	26231536	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	1.764000	0.38471	-0.165000	0.10908	-0.258000	0.10820	TAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan		0.572	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	protein_coding	OTTHUMT00000044257.2	G		-		27333536	-1	no_errors	ENST00000381436	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	27333536	G	T	27333536	4	4	209	1	0	0	0	0	0	1	0	0	6637	1024	36	3	579	3	GPR12	13	27333536	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		27333536	87836342	68	17161											
KLHL1	57626	genome.wustl.edu	37	chr13	70681572	70681572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattcagcggattgaaggaaGaggaggaagaggacggggag	19	4	1	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr13:70681572G>T	ENST00000377844.4	-	1	1019	c.260C>A	c.(259-261)tCt>tAt	p.S87Y	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	87	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGAaggaagaggaggaaga	0.587																																																	0								ENSG00000150361						67	70	69					13																	70681572		2203	4300	6503	KLHL1	SO:0001583	missense	0			-	HGNC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.260C>A	13.37:g.70681572G>T	ENSP00000367075:p.Ser87Tyr	Somatic	0	68	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.S87Y	ENST00000377844.4	37	c.260	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227491	0.39399	.	.	ENSG00000150361	ENST00000377844	T	0.73897	-0.79	5.3	5.3	0.74995	.	2.007420	0.02094	N	0.053415	T	0.69548	0.3123	L	0.36672	1.1	0.80722	D	1	P;P	0.38642	0.641;0.641	B;B	0.31614	0.087;0.133	T	0.58929	-0.7549	10	0.72032	D	0.01	.	13.7654	0.62992	0.0:0.1534:0.8466:0.0	.	87;87	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	Y	87	ENSP00000367075:S87Y	ENSP00000367075:S87Y	S	-	2	0	KLHL1	69579573	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.895000	0.56258	2.477000	0.83638	0.650000	0.86243	TCT	-	NULL		0.587	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	protein_coding	OTTHUMT00000045231.3	G	NM_020866	-		70681572	-1	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70681572	G	T	70681572	3	4	209	1	0	0	0	0	1	0	0	0	8367	942	33	3	2030	3	KLHL1	13	70681572	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	43348036	70681572	44488306	69	17162											
ADCY4	196883	genome.wustl.edu	37	chr14	24802126	24802126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccgggaagcgaggccCagcagcagcgagaagccgcc	15	15	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr14:24802126C>T	ENST00000310677.4	-	3	341	c.228G>A	c.(226-228)ctG>ctA	p.L76L	ADCY4_ENST00000554068.2_Silent_p.L76L|ADCY4_ENST00000558563.1_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.G143R|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.L76L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	76					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AAGCGAGGCCCAGCAGCAGCG	0.667											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000258973						23	31	28					14																	24802126		2203	4300	6503	RP11-934B9.3	SO:0001819	synonymous_variant	0			-	Clone_based_vega_gene	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.228G>A	14.37:g.24802126C>T		Somatic	0	35	0	774	0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP							NULL	p.G143R	ENST00000310677.4	37	c.427	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695148	0.68386	.	.	ENSG00000258973	ENST00000555591	.	.	.	5.66	4.73	0.59995	.	.	.	.	.	T	0.69214	0.3086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67154	-0.5742	4	.	.	.	.	13.8862	0.63710	0.0:0.7665:0.2334:0.0	.	.	.	.	R	143	.	.	G	-	1	0	RP11-934B9.3	23871966	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.838000	0.39211	2.663000	0.90544	0.555000	0.69702	GGG	-	NULL		0.667	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258973	protein_coding	OTTHUMT00000073200.4	C		-		24802126	-1	no_errors	ENST00000555591	ensembl	human	putative	74_37	missense	SNP	0.999	T	T	24802126	C	T	24802126	2	4	209	1	0	0	0	0	0	0	0	1	296	581	21	2		2	ADCY4	14	24802126	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		24802126	82547414	70	17163											
AKAP6	9472	genome.wustl.edu	37	chr14	33014696	33014696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttacttacggtagctgcTgactctatctctaccaatgg	9	10	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr14:33014696T>C	ENST00000280979.4	+	4	1007	c.837T>C	c.(835-837)gcT>gcC	p.A279A	AKAP6_ENST00000557354.1_Silent_p.A279A|AKAP6_ENST00000557272.1_Silent_p.A279A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	279					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGGTAGCTGCTGACTCTATCT	0.453																																					Melanoma(49;821 1200 7288 13647 42351)												0								ENSG00000151320						134	120	124					14																	33014696		2203	4300	6503	AKAP6	SO:0001819	synonymous_variant	0			-	HGNC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.837T>C	14.37:g.33014696T>C		Somatic	0	18	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	A7E242|A7E2D4|O15028	Silent	SNP							smart_Spectrin/alpha-actinin	p.A279	ENST00000280979.4	37	c.837	CCDS9644.1	14																																																																																			-	NULL		0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	T	NM_004274	-		33014696	1	no_errors	ENST00000280979	ensembl	human	known	74_37	silent	SNP	0.977	C	C	33014696	T	C	33014696	2	2	209	1	0	0	0	0	0	0	0	1	455	1567	55	5		5	AKAP6	14	33014696	Silent	SNP	T	TCGA-SG-A6Z4-01A-22D-A33E-09	8212570	33014696	74334844	71	17164											
SPTB	6710	genome.wustl.edu	37	chr14	65260164	65260164	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaagttctcagcatcctgGaggttcttcttgcagaaggc	10	9	3	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr14:65260164G>T	ENST00000389721.5	-	13	2249	c.2217C>A	c.(2215-2217)ctC>ctA	p.L739L	SPTB_ENST00000556626.1_Silent_p.L739L|SPTB_ENST00000542895.1_Silent_p.L739L|SPTB_ENST00000389720.3_Silent_p.L739L|SPTB_ENST00000389722.3_Silent_p.L739L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	739					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)		CAGCATCCTGGAGGTTCTTCT	0.597																																																	0								ENSG00000070182						48	47	47					14																	65260164		2203	4300	6503	SPTB	SO:0001819	synonymous_variant	0			-	HGNC		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.2217C>A	14.37:g.65260164G>T		Somatic	0	55	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q15510|Q15519	Silent	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L739	ENST00000389721.5	37	c.2217	CCDS32100.1	14																																																																																			-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	G		-		65260164	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	SNP	1.000	T	T	65260164	G	T	65260164	2	4	209	1	0	0	0	0	0	0	0	1	15125	1161	41	3		3	SPTB	14	65260164	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	32245468	65260164	42089376	72	17165											
KCNK13	56659	genome.wustl.edu	37	chr14	90650876	90650876	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccagaacgcccactatgaGagccaaggcctctatcgctt	9	14	1	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr14:90650876G>T	ENST00000282146.4	+	2	1197	c.756G>T	c.(754-756)gaG>gaT	p.E252D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	252					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)				CCCACTATGAGAGCCAAGGCC	0.493																																																	0								ENSG00000152315						118	105	109					14																	90650876		2203	4300	6503	KCNK13	SO:0001583	missense	0			-	HGNC	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.756G>T	14.37:g.90650876G>T	ENSP00000282146:p.Glu252Asp	Somatic	0	39	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B5TJL8|Q96E79	Missense_Mutation	SNP							pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.E252D	ENST00000282146.4	37	c.756	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075325	0.07184	.	.	ENSG00000152315	ENST00000282146	T	0.41400	1.0	5.42	-10.8	0.00216	Ion transport 2 (1);	0.955768	0.08571	N	0.926120	T	0.23289	0.0563	L	0.39020	1.185	0.26135	N	0.980355	B	0.02656	0.0	B	0.10450	0.005	T	0.09729	-1.0661	10	0.17832	T	0.49	.	8.8549	0.35223	0.0519:0.5188:0.2338:0.1956	.	252	Q9HB14	KCNKD_HUMAN	D	252	ENSP00000282146:E252D	ENSP00000282146:E252D	E	+	3	2	KCNK13	89720629	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-3.167000	0.00575	-2.275000	0.00679	-0.175000	0.13238	GAG	-	pfam_2pore_dom_K_chnl_dom		0.493	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	protein_coding	OTTHUMT00000411251.1	G	NM_022054	-		90650876	1	no_errors	ENST00000282146	ensembl	human	known	74_37	missense	SNP	0.035	T	T	90650876	G	T	90650876	3	4	209	1	0	0	0	0	1	0	0	0	8063	933	33	3	762	3	KCNK13	14	90650876	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	25390712	90650876	16698664	73	17166											
MTFMT	123263	genome.wustl.edu	37	chr15	65295423	65295423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgcattgttgcatagCaacagtttttttctgcttct	6	9	3	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr15:65295423C>A	ENST00000220058.4	-	9	1160	c.1147G>T	c.(1147-1149)Gct>Tct	p.A383S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	383						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TGTTGCATAGCAACAGTTTTT	0.353																																																	0								ENSG00000103707						110	97	101					15																	65295423		1825	4083	5908	MTFMT	SO:0001583	missense	0			-	HGNC	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1147G>T	15.37:g.65295423C>A	ENSP00000220058:p.Ala383Ser	Somatic	0	49	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	33	21.43	B7Z734	Missense_Mutation	SNP							pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt	p.A383S	ENST00000220058.4	37	c.1147	CCDS45280.1	15	.	.	.	.	.	.	.	.	.	.	C	0.761	-0.769382	0.02974	.	.	ENSG00000103707	ENST00000220058	T	0.63255	-0.03	5.65	4.73	0.59995	.	0.466252	0.21179	N	0.078856	T	0.45438	0.1342	N	0.12182	0.205	0.22050	N	0.999394	P	0.36144	0.539	B	0.33454	0.164	T	0.39901	-0.9591	10	0.72032	D	0.01	-5.667	15.2689	0.73683	0.0:0.9257:0.0:0.0743	.	383	Q96DP5	FMT_HUMAN	S	383	ENSP00000220058:A383S	ENSP00000220058:A383S	A	-	1	0	MTFMT	63082476	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	2.128000	0.42045	0.858000	0.35431	-0.813000	0.03139	GCT	-	NULL		0.353	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFMT	protein_coding	OTTHUMT00000418155.1	C	NM_139242	-		65295423	-1	no_errors	ENST00000220058	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65295423	C	A	65295423	3	1	209	1	0	0	0	0	1	0	0	0	9926	710	25	3	26	3	MTFMT	15	65295423	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		65295423	37235969	74	17167											
CCDC33	80125	genome.wustl.edu	37	chr15	74564053	74564053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctccagatctttctcCggggagtcaacgagcccctg	9	16	4	1	rs201603982	byFrequency	TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr15:74564053C>T	ENST00000398814.3	+	6	987	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CCDC33_ENST00000321288.5_Missense_Mutation_p.R389W	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	389										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						GATCTTTCTCCGGGGAGTCAA	0.582													c|||	2	0.000399361	0.0015	0	5008	,	,		17269	0		0	False		,,,				2504	0																0								ENSG00000140481						35	38	37					15																	74564053		1999	4150	6149	CCDC33	SO:0001583	missense	0			-	HGNC	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.556C>T	15.37:g.74564053C>T	ENSP00000381795:p.Arg186Trp	Somatic	0	71	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom	p.R389W	ENST00000398814.3	37	c.1165	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	c	13.24	2.179487	0.38511	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.26373	1.74;2.1	4.48	2.42	0.29668	.	0.773622	0.11104	N	0.599308	T	0.20577	0.0495	L	0.40543	1.245	0.22648	N	0.998893	B;B	0.19935	0.04;0.022	B;B	0.12837	0.008;0.007	T	0.20438	-1.0275	10	0.72032	D	0.01	.	7.2644	0.26222	0.1924:0.6212:0.1864:0.0	.	389;186	C9JFX2;Q8N5R6-6	.;.	W	389;186	ENSP00000325012:R389W;ENSP00000381795:R186W	ENSP00000325012:R389W	R	+	1	2	CCDC33	72351106	0.000000	0.05858	0.964000	0.40570	0.932000	0.56968	-0.024000	0.12435	1.062000	0.40625	0.558000	0.71614	CGG	-	NULL		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	protein_coding	OTTHUMT00000419491.2	C	NM_182791	rs201603982		74564053	1	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	SNP	0.812	T	T	74564053	C	T	74564053	3	4	209	1	0	0	0	0	1	0	0	0	2808	643	23	1	578	1	CCDC33	15	74564053	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	9268630	74564053	27967339	75	17168											
CACNA1H	8912	genome.wustl.edu	37	chr16	1250294	1250294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcggccgtactaccagaCggaggagggcgaggagaacc	16	12	0	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr16:1250294C>T	ENST00000348261.5	+	7	1090	c.842C>T	c.(841-843)aCg>aTg	p.T281M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.T281M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.T281M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	281					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TACTACCAGACGGAGGAGGGC	0.642																																																	0								ENSG00000196557						30	30	30					16																	1250294		2088	4201	6289	CACNA1H	SO:0001583	missense	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.842C>T	16.37:g.1250294C>T	ENSP00000334198:p.Thr281Met	Somatic	0	122	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	65	26.14	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.T281M	ENST00000348261.5	37	c.842	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356868	0.61293	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96913	-4.17;-4.11	4.4	4.4	0.53042	Ion transport (1);	1.387780	0.04533	N	0.386779	D	0.97489	0.9178	M	0.85462	2.755	0.09310	N	1	D;P	0.56287	0.975;0.956	P;P	0.51895	0.653;0.683	D	0.89417	0.3707	10	0.62326	D	0.03	.	9.8648	0.41136	0.0:0.906:0.0:0.094	.	281;281	O95180-2;O95180	.;CAC1H_HUMAN	M	281	ENSP00000334198:T281M;ENSP00000351401:T281M	ENSP00000334198:T281M	T	+	2	0	CACNA1H	1190295	0.015000	0.18098	1.000000	0.80357	0.998000	0.95712	2.693000	0.47027	2.275000	0.75901	0.586000	0.80456	ACG	-	pfam_Ion_trans_dom		0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	C	NM_001005407	-		1250294	1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	SNP	0.341	T	T	1250294	C	T	1250294	3	4	209	1	0	0	0	0	1	0	0	0	2547	536	19	1	864	1	CACNA1H	16	1250294	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		1250294	89104459	76	17169											
HS3ST6	64711	genome.wustl.edu	37	chr16	1961876	1961876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaccagacgctccccGctgacgaacaggaagtggga	13	13	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr16:1961876G>A	ENST00000293937.3	-	2	743	c.744C>T	c.(742-744)agC>agT	p.S248S	HS3ST6_ENST00000443547.1_Silent_p.S217S|HS3ST6_ENST00000454677.2_Silent_p.S265S			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	248					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GACGCTCCCCGCTGACGAACA	0.667																																																	0								ENSG00000162040						44	54	50					16																	1961876		2190	4295	6485	HS3ST6	SO:0001819	synonymous_variant	0			-	HGNC			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.744C>T	16.37:g.1961876G>A		Somatic	1	131	0.76		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	59	43.27	Q96RX7	Silent	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S248	ENST00000293937.3	37	c.744		16																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.667	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	HS3ST6	protein_coding		G	NM_001009606	-		1961876	-1	no_errors	ENST00000293937	ensembl	human	known	74_37	silent	SNP	0.988	A	A	1961876	G	A	1961876	2	1	209	1	0	0	0	0	0	0	0	1	7371	1078	38	1		1	HS3ST6	16	1961876	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	711582	1961876	88392877	77	17170											
C16orf53	79447	genome.wustl.edu	37	chr16	29828598	29828598	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaggactccctgattgacCggagacgcaccccaggtaca	10	14	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr16:29828598C>A	ENST00000320330.6	+	2	1112	c.550C>A	c.(550-552)Cgg>Agg	p.R184R	AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA|PAGR1_ENST00000609618.1_Silent_p.R184R|AC009133.12_ENST00000564980.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	184						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCTGATTGACCGGAGACGCAC	0.547											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000263136						111	89	97					16																	29828598		2197	4300	6497	PAGR1	SO:0001819	synonymous_variant	0			-	Uniprot_gn	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.550C>A	16.37:g.29828598C>A		Somatic	0	73	0	812	0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A2ICR6	Silent	SNP							NULL	p.R184	ENST00000320330.6	37	c.550	CCDS10655.1	16																																																																																			-	NULL		0.547	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	PAGR1	protein_coding	OTTHUMT00000473165.1	C	NM_024516	-		29828598	1	no_errors	ENST00000609618	ensembl	human	known	74_37	silent	SNP	1.000	A	A	29828598	C	A	29828598	2	1	209	1	0	0	0	0	0	0	0	1	1820	643	23	3		3	C16orf53	16	29828598	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	27866722	29828598	60526155	78	17171											
DHX38	9785	genome.wustl.edu	37	chr16	72135400	72135400	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacctttttccttttcaggCtcagcacaaacactgggaac	7	12	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr16:72135400C>A	ENST00000268482.3	+	11	1897	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	463					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)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCTTTTCAGGCTCAGCACAAA	0.532																																					Melanoma(97;711 1442 7855 13832 28836)												0								ENSG00000140829						58	42	48					16																	72135400		2100	4096	6196	DHX38	SO:0001630	splice_region_variant	0			-	HGNC	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1387-1C>A	16.37:g.72135400C>A		Somatic	0	51	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A463D	ENST00000268482.3	37	c.1388	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253513	0.59212	.	.	ENSG00000140829	ENST00000268482	T	0.43294	0.95	5.06	4.1	0.47936	.	0.058236	0.64402	N	0.000002	T	0.44159	0.1280	M	0.78801	2.425	0.80722	D	1	B	0.25351	0.124	B	0.24269	0.052	T	0.37641	-0.9697	10	0.17832	T	0.49	.	14.8731	0.70474	0.1445:0.8555:0.0:0.0	.	463	Q92620	PRP16_HUMAN	D	463	ENSP00000268482:A463D	ENSP00000268482:A463D	A	+	2	0	DHX38	70692901	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.226000	0.78060	1.114000	0.41781	0.655000	0.94253	GCT	-	NULL		0.532	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	protein_coding	OTTHUMT00000269004.3	C	NM_014003	-	Missense_Mutation	72135400	1	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	SNP	1.000	A	A	72135400	C	A	72135400	5	1	209	1	0	0	0	0	0	0	1	0	4513	811	28	3	1426	3	DHX38	16	72135400	Splice_Site	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	42306802	72135400	18219353	79	17172											
KIAA0182	23199	genome.wustl.edu	37	chr16	85694912	85694912	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccttggagacgcggcgggccGaaagccactctctgcacagc	13	15	1	1	rs528060260		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr16:85694912G>T	ENST00000253458.7	+	9	1977	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	GSE1_ENST00000405402.2_Nonsense_Mutation_p.E497*|GSE1_ENST00000393243.1_Nonsense_Mutation_p.E528*|RN7SL381P_ENST00000577658.1_RNA	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	601	Pro-rich.																GCGGCGGGCCGAAAGCCACTC	0.662																																																	0								ENSG00000131149						30	34	33					16																	85694912		2180	4266	6446	GSE1	SO:0001587	stop_gained	0			-	HGNC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1801G>T	16.37:g.85694912G>T	ENSP00000253458:p.Glu601*	Somatic	0	58	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Nonsense_Mutation	SNP							pfam_GSE-like	p.E601*	ENST00000253458.7	37	c.1801	CCDS10952.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.781875	0.97833	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	.	.	.	5.17	5.17	0.71159	.	0.207319	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-15.9308	18.2613	0.90037	0.0:0.0:1.0:0.0	.	.	.	.	X	497;601;528	.	ENSP00000253458:E601X	E	+	1	0	KIAA0182	84252413	1.000000	0.71417	0.789000	0.31954	0.079000	0.17450	3.188000	0.50958	2.403000	0.81681	0.561000	0.74099	GAA	-	NULL		0.662	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	protein_coding	OTTHUMT00000325527.1	G	NM_014615	-		85694912	1	no_errors	ENST00000253458	ensembl	human	known	74_37	nonsense	SNP	0.947	T	T	85694912	G	T	85694912	4	4	209	1	0	0	0	0	0	1	0	0	8161	1059	37	3	1835	3	KIAA0182	16	85694912	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	13559512	85694912	4659841	80	17173											
GLOD4	51031	genome.wustl.edu	37	chr17	681981	681981	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaaattcctcatgccgcaGaacctggtgtgagatttaga	9	9	2	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr17:681981G>T	ENST00000301328.5	-	3	169				GLOD4_ENST00000536578.1_De_novo_Start_OutOfFrame|GLOD4_ENST00000301329.6_Missense_Mutation_p.L32M			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCATGCCGCAGAACCTGGTGT	0.398																																																	0								ENSG00000167699						76	71	73					17																	681981		2203	4300	6503	GLOD4	SO:0001627	intron_variant	0			-	HGNC	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.146-80C>A	17.37:g.681981G>T		Somatic	0	60	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP							NULL	p.L32M	ENST00000301328.5	37	c.94		17	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301596	0.40694	.	.	ENSG00000167699	ENST00000301329;ENST00000397393	T	0.65732	-0.17	5.14	4.17	0.49024	.	0.649796	0.13933	N	0.352726	T	0.72439	0.3460	M	0.92923	3.36	0.80722	D	1	B	0.29253	0.239	B	0.32393	0.145	T	0.74816	-0.3536	10	0.87932	D	0	-1.1096	12.9956	0.58644	0.0787:0.0:0.9213:0.0	.	32	Q9HC38-2	.	M	32;235	ENSP00000301329:L32M	ENSP00000301329:L32M	L	-	1	2	GLOD4	628731	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	2.863000	0.48396	1.172000	0.42781	-0.122000	0.15005	CTG	-	NULL		0.398	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	protein_coding	OTTHUMT00000437190.1	G	NM_016080	-		681981	-1	no_errors	ENST00000301329	ensembl	human	known	74_37	missense	SNP	1.000	T	T	681981	G	T	681981	1	4	209	0	1	0	0	0	0	0	0	0	6452	933	33	3		3	GLOD4	17	681981	Intron	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		681981	80513229	81	17174											
TP53	7157	genome.wustl.edu	37	chr17	7574034	7574034	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagcgctcacgcccacggatCtgcagcaacagaggaggggg	15	12	2	1	rs587782272		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr17:7574034C>G	ENST00000269305.4	-	10	1183		c.e10-1		TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_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.?(9)|p.0?(8)|p.I332fs*49(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)	GCCCACGGATCTGCAGCAACA	0.512		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	18	Unknown(9)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|stomach(1)|breast(1)|ovary(1)	GRCh37	CS002470|CS033842	TP53	S		ENSG00000141510						44	36	39					17																	7574034		2203	4300	6503	TP53	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;	-	HGNC	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.994-1G>C	17.37:g.7574034C>G		Somatic	0	43	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	6	83.33	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							-	e9-1	ENST00000269305.4	37	c.994-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051594	0.36181	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4323	0.83853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514759	1.000000	0.71417	0.997000	0.53966	0.143000	0.21401	6.410000	0.73294	2.549000	0.85964	0.561000	0.74099	.	-	-		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7574034	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	7574034	C	G	7574034	5	3	209	1	0	0	0	0	0	0	1	0	16388	927	32	4	196	4	TP53	17	7574034	Splice_Site	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	6892053	7574034	73621176	82	17175											
CCDC103	388389	genome.wustl.edu	37	chr17	42978433	42978433	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaggctgcactcactgctGatgagaagtacaaacgggag	13	9	1	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr17:42978433G>T	ENST00000417826.2	+	2	162	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	CCDC103_ENST00000410006.2_Missense_Mutation_p.D23Y|EFTUD2_ENST00000591382.1_5'Flank|CCDC103_ENST00000410027.1_Missense_Mutation_p.D23Y|EFTUD2_ENST00000592576.1_5'Flank|EFTUD2_ENST00000426333.2_5'Flank|AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000331733.4_5'UTR|EFTUD2_ENST00000402521.3_5'Flank|FAM187A_ENST00000412523.2_5'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	23					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				ACTCACTGCTGATGAGAAGTA	0.502																																																	0								ENSG00000167131						122	103	110					17																	42978433		2203	4300	6503	CCDC103	SO:0001583	missense	0			-	HGNC	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.67G>T	17.37:g.42978433G>T	ENSP00000391692:p.Asp23Tyr	Somatic	0	52	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K145|B8ZZU0	Missense_Mutation	SNP							NULL	p.D23Y	ENST00000417826.2	37	c.67	CCDS11490.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778981	0.90195	.	.	ENSG00000167131	ENST00000357776;ENST00000410027;ENST00000417826;ENST00000410006	D;D;D	0.87334	-2.23;-2.24;-2.24	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000014	D	0.94255	0.8155	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94424	0.7643	10	0.87932	D	0	-18.3531	19.551	0.95319	0.0:0.0:1.0:0.0	.	23	Q8IW40	CC103_HUMAN	Y	23	ENSP00000350420:D23Y;ENSP00000391692:D23Y;ENSP00000387252:D23Y	ENSP00000350420:D23Y	D	+	1	0	CCDC103	40333959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.228000	0.89789	2.728000	0.93425	0.462000	0.41574	GAT	-	NULL		0.502	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC103	protein_coding	OTTHUMT00000334578.1	G	NM_213607	-		42978433	1	no_errors	ENST00000410006	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42978433	G	T	42978433	3	4	209	1	0	0	0	0	1	0	0	0	2740	1290	45	3	69	3	CCDC103	17	42978433	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	35404399	42978433	38216777	83	17176											
POLG2	11232	genome.wustl.edu	37	chr17	62479040	62479040	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactcatttaactcacctgtCttagttccaatgtggggcct	7	11	3	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr17:62479040C>A	ENST00000539111.2	-	6	1254	c.1187G>T	c.(1186-1188)aGa>aTa	p.R396I	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	396					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ACTCACCTGTCTTAGTTCCAA	0.393																																					Colon(3;18 21 435 17652 48887)												0								ENSG00000256525						67	67	67					17																	62479040		2203	4300	6503	POLG2	SO:0001583	missense	0			-	HGNC	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1187G>T	17.37:g.62479040C>A	ENSP00000442563:p.Arg396Ile	Somatic	0	70	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP							pfam_Anticodon-bd,superfamily_Anticodon-bd	p.R396I	ENST00000539111.2	37	c.1187	CCDS32706.1	17	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503841	0.64410	.	.	ENSG00000256525	ENST00000539111	D	0.82526	-1.62	5.91	5.91	0.95273	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90651	0.4582	10	0.72032	D	0.01	-19.4102	18.5344	0.91004	0.0:1.0:0.0:0.0	.	396	Q9UHN1	DPOG2_HUMAN	I	396	ENSP00000442563:R396I	ENSP00000442563:R396I	R	-	2	0	POLG2	59909502	1.000000	0.71417	0.996000	0.52242	0.146000	0.21551	6.265000	0.72534	2.816000	0.96949	0.644000	0.83932	AGA	-	pfam_Anticodon-bd,superfamily_Anticodon-bd		0.393	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	protein_coding	OTTHUMT00000443820.1	C	NM_007215	-		62479040	-1	no_errors	ENST00000539111	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62479040	C	A	62479040	3	1	209	1	0	0	0	0	1	0	0	0	12203	913	32	3	282	3	POLG2	17	62479040	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	19500607	62479040	18716170	84	17177											
HEXDC	284004	genome.wustl.edu	37	chr17	80400419	80400419	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcagcccctgggggAgagactagaaaacacagaag	14	11	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr17:80400419A>G	ENST00000327949.9	+	0	1631				HEXDC_ENST00000337014.6_Missense_Mutation_p.E570G|HEXDC_ENST00000577944.1_Missense_Mutation_p.R543G			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCCTGGGGGAGAGACTAGAA	0.582																																																	0								ENSG00000169660						72	82	79					17																	80400419		1960	4155	6115	HEXDC	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*159A>G	17.37:g.80400419A>G		Somatic	0	76	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP							pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.E570G	ENST00000327949.9	37	c.1709		17	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030934	0.07543	.	.	ENSG00000169660	ENST00000337014	T	0.39229	1.09	3.14	-6.28	0.02020	.	2581.410000	0.00357	N	0.000023	T	0.26448	0.0646	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.10590	-1.0623	9	0.87932	D	0	.	1.0689	0.01617	0.467:0.119:0.1752:0.2388	.	570	Q8WVB3-2	.	G	570	ENSP00000337854:E570G	ENSP00000337854:E570G	E	+	2	0	HEXDC	77993708	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.906000	0.01590	-2.174000	0.00772	-1.288000	0.01363	GAG	-	NULL		0.582	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	protein_coding	OTTHUMT00000443513.1	A	NM_173620	-		80400419	1	no_errors	ENST00000337014	ensembl	human	known	74_37	missense	SNP	0.000	G	G	80400419	A	G	80400419	1	3	209	0	1	0	0	0	0	0	0	0	7077	304	11	5		5	HEXDC	17	80400419	3'UTR	SNP	A	TCGA-SG-A6Z4-01A-22D-A33E-09	17921379	80400419	794791	85	17178											
LAMA3	3909	genome.wustl.edu	37	chr18	21407358	21407358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacacttcctgcttgatgGggagccaagacccgtggcag	13	12	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr18:21407358G>T	ENST00000313654.9	+	23	2991	c.2750G>T	c.(2749-2751)gGg>gTg	p.G917V	LAMA3_ENST00000399516.3_Missense_Mutation_p.G917V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	917	Domain IV 1 (domain IV B).				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)					CTGCTTGATGGGGAGCCAAGA	0.542																																																	0								ENSG00000053747						103	106	105					18																	21407358		2016	4175	6191	LAMA3	SO:0001583	missense	0			-	HGNC	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.2750G>T	18.37:g.21407358G>T	ENSP00000324532:p.Gly917Val	Somatic	0	21	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G917V	ENST00000313654.9	37	c.2750	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969080	0.18659	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19105	2.18;2.17	5.65	4.78	0.61160	.	.	.	.	.	T	0.24353	0.0590	M	0.73962	2.25	0.58432	D	0.999999	P;P	0.52316	0.836;0.952	B;B	0.40636	0.23;0.335	T	0.07046	-1.0793	9	0.72032	D	0.01	.	8.6421	0.33983	0.078:0.0:0.7722:0.1498	.	917;917	Q6VU67;Q16787	.;LAMA3_HUMAN	V	917;917;915	ENSP00000324532:G917V;ENSP00000382432:G917V	ENSP00000324532:G917V	G	+	2	0	LAMA3	19661356	1.000000	0.71417	0.114000	0.21550	0.071000	0.16799	3.500000	0.53318	1.376000	0.46267	0.655000	0.94253	GGG	-	NULL		0.542	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129	-		21407358	1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	SNP	0.015	T	T	21407358	G	T	21407358	3	4	209	1	0	0	0	0	1	0	0	0	8609	1232	43	3	2840	3	LAMA3	18	21407358	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		21407358	56669890	86	17179											
DCC	1630	genome.wustl.edu	37	chr18	50985606	50985606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactttgttccataggaaaCgggccacccacagtgctggc	10	12	0	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr18:50985606C>T	ENST00000442544.2	+	24	4013	c.3397C>T	c.(3397-3399)Cgg>Tgg	p.R1133W	DCC_ENST00000581580.1_Missense_Mutation_p.R768W	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1133					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCATAGGAAACGGGCCACCCA	0.443																																																	0								ENSG00000187323						49	49	49					18																	50985606		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3397C>T	18.37:g.50985606C>T	ENSP00000389140:p.Arg1133Trp	Somatic	0	52	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	11	63.33		Missense_Mutation	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1133W	ENST00000442544.2	37	c.3397	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326766	0.24080	.	.	ENSG00000187323	ENST00000442544	T	0.55588	0.51	5.93	5.01	0.66863	.	0.148193	0.43260	D	0.000595	T	0.68568	0.3015	L	0.58101	1.795	0.45634	D	0.998562	D	0.89917	1.0	D	0.87578	0.998	T	0.70208	-0.4935	10	0.87932	D	0	-8.3898	14.8726	0.70471	0.1442:0.8558:0.0:0.0	.	1133	P43146	DCC_HUMAN	W	1133	ENSP00000389140:R1133W	ENSP00000389140:R1133W	R	+	1	2	DCC	49239604	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	3.604000	0.54081	2.826000	0.97356	0.655000	0.94253	CGG	-	pfam_Neogenin_C		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	C	NM_005215	-		50985606	1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50985606	C	T	50985606	3	4	209	1	0	0	0	0	1	0	0	0	4284	527	19	1	3491	1	DCC	18	50985606	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	29578248	50985606	27091642	87	17180											
AP3D1	8943	genome.wustl.edu	37	chr19	2129394	2129394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagcggggccagggacaGgtagttcttagggttgcgtc	17	7	1	1	rs199695826		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:2129394G>A	ENST00000345016.5	-	7	886	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Silent_p.L219L|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	219					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCCAGGGACAGGTAGTTCTTA	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		16927	0		0	False		,,,				2504	0																0								ENSG00000065000	G	,	4,3952		0,4,1974	137	141	140		,655	3.5	1	19		140	14,8306		0,14,4146	no	intron,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	0,18,6120	AA,AG,GG		0.1683,0.1011,0.1466	,	,219/1154	2129394	18,12258	1978	4160	6138	AP3D1	SO:0001819	synonymous_variant	0			-	HGNC	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.655C>T	19.37:g.2129394G>A		Somatic	0	78	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP							pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.L219	ENST00000345016.5	37	c.655	CCDS42459.1	19																																																																																			-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.562	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	protein_coding	OTTHUMT00000450912.1	G		rs199695826		2129394	-1	no_errors	ENST00000355272	ensembl	human	known	74_37	silent	SNP	1.000	A	A	2129394	G	A	2129394	2	1	209	1	0	0	0	0	0	0	0	1	746	991	35	2		2	AP3D1	19	2129394	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		2129394	56999589	88	17181											
TMEM205	374882	genome.wustl.edu	37	chr19	11453523	11453523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttccagggcaaggccagCgagacagagcccattgctca	11	12	1	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:11453523C>T	ENST00000354882.5	-	3	964	c.538G>A	c.(538-540)Gct>Act	p.A180T	TMEM205_ENST00000586218.1_Missense_Mutation_p.A119T|CCDC159_ENST00000588790.1_5'Flank|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Missense_Mutation_p.A180T|TMEM205_ENST00000447337.1_Missense_Mutation_p.A180T|TMEM205_ENST00000593256.2_Missense_Mutation_p.A180T|TMEM205_ENST00000587948.1_Missense_Mutation_p.A180T|TMEM205_ENST00000586590.1_Missense_Mutation_p.A180T|TMEM205_ENST00000586956.1_Missense_Mutation_p.A180T|TMEM205_ENST00000588560.1_Missense_Mutation_p.A180T			Q6UW68	TM205_HUMAN	transmembrane protein 205	180						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GCAAGGCCAGCGAGACAGAGC	0.527																																																	0								ENSG00000105518						113	117	115					19																	11453523		2203	4300	6503	TMEM205	SO:0001583	missense	0			-	HGNC	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.538G>A	19.37:g.11453523C>T	ENSP00000346954:p.Ala180Thr	Somatic	0	105	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20		Missense_Mutation	SNP							NULL	p.A180T	ENST00000354882.5	37	c.538	CCDS32909.1	19	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594299	0.28445	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.75	3.72	0.42706	.	0.340681	0.27056	U	0.021151	T	0.31979	0.0814	L	0.54323	1.7	0.09310	N	1	P	0.35551	0.509	B	0.24541	0.054	T	0.12837	-1.0532	9	0.23302	T	0.38	-1.8862	11.9236	0.52806	0.0:0.9135:0.0:0.0865	.	180	Q6UW68	TM205_HUMAN	T	180	.	ENSP00000346954:A180T	A	-	1	0	TMEM205	11314523	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	1.007000	0.29860	1.133000	0.42147	0.655000	0.94253	GCT	-	NULL		0.527	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM205	protein_coding	OTTHUMT00000458743.1	C	NM_198536	-		11453523	-1	no_errors	ENST00000354882	ensembl	human	known	74_37	missense	SNP	0.034	T	T	11453523	C	T	11453523	3	4	209	1	0	0	0	0	1	0	0	0	16137	768	27	1	35	1	TMEM205	19	11453523	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	9324129	11453523	47675460	89	17182											
ZNF823	55552	genome.wustl.edu	37	chr19	11832715	11832715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtgaattctttcaTgtcgtagaaggcaagtgagc	11	8	2	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:11832715T>C	ENST00000341191.6	-	4	1787	c.1634A>G	c.(1633-1635)cAt>cGt	p.H545R	ZNF823_ENST00000545749.1_Missense_Mutation_p.H363R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	545					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(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AATTCTTTCATGTCGTAGAAG	0.413										HNSCC(68;0.2)																																							0								ENSG00000197933						74	75	75					19																	11832715		2203	4299	6502	ZNF823	SO:0001583	missense	0			-	HGNC	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1634A>G	19.37:g.11832715T>C	ENSP00000340683:p.His545Arg	Somatic	0	82	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	27	60.29	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H545R	ENST00000341191.6	37	c.1634	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	-	17.92	3.507361	0.64410	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	D;D	0.86865	-2.18;-2.18	0.856	-0.266	0.12942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91778	0.7399	H	0.95043	3.615	0.27262	N	0.958603	D	0.53312	0.959	P	0.52554	0.702	D	0.84236	0.0469	9	0.87932	D	0	.	5.0443	0.14475	0.0:0.1987:0.0:0.8013	.	545	P16415	ZN823_HUMAN	R	363;545	ENSP00000440162:H363R;ENSP00000340683:H545R	ENSP00000340683:H545R	H	-	2	0	ZNF823	11693715	0.998000	0.40836	0.004000	0.12327	0.752000	0.42762	3.387000	0.52501	-0.159000	0.11021	0.254000	0.18369	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	protein_coding	OTTHUMT00000344516.2	T	NM_001080493	-		11832715	-1	no_errors	ENST00000341191	ensembl	human	known	74_37	missense	SNP	0.952	C	C	11832715	T	C	11832715	3	2	209	1	0	0	0	0	1	0	0	0	18186	1464	51	5	202	5	ZNF823	19	11832715	Missense_Mutation	SNP	T	TCGA-SG-A6Z4-01A-22D-A33E-09	379192	11832715	47296268	90	17183											
LYL1	4066	genome.wustl.edu	37	chr19	13211670	13211670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgaggaaggggtgagGgtggtagtgcagggccaaag	20	5	0	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:13211670G>T	ENST00000264824.4	-	2	676	c.316C>A	c.(316-318)Cct>Act	p.P106T		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	106					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|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)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			AAGGGGTGAGGGTGGTAGTGC	0.667			T	TRB@	T-ALL																																			Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	0								ENSG00000104903						16	19	18					19																	13211670		2131	4147	6278	LYL1	SO:0001583	missense	0			-	HGNC		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.316C>A	19.37:g.13211670G>T	ENSP00000264824:p.Pro106Thr	Somatic	0	51	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	O76102	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P106T	ENST00000264824.4	37	c.316	CCDS12292.1	19	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442071	0.63067	.	.	ENSG00000104903	ENST00000264824	D	0.97870	-4.58	4.67	4.67	0.58626	.	0.000000	0.56097	D	0.000034	D	0.97614	0.9218	L	0.44542	1.39	0.34504	D	0.706342	D	0.64830	0.994	P	0.61328	0.887	D	0.99972	1.2043	10	0.72032	D	0.01	-6.2263	16.352	0.83215	0.0:0.0:1.0:0.0	.	106	P12980	LYL1_HUMAN	T	106	ENSP00000264824:P106T	ENSP00000264824:P106T	P	-	1	0	LYL1	13072670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.931000	0.48932	2.139000	0.66308	0.555000	0.69702	CCT	-	NULL		0.667	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYL1	protein_coding	OTTHUMT00000452827.1	G	NM_005583	-		13211670	-1	no_errors	ENST00000264824	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13211670	G	T	13211670	3	4	209	1	0	0	0	0	1	0	0	0	9108	1232	43	3	538	3	LYL1	19	13211670	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	1378955	13211670	45917313	91	17184											
NOTCH3	4854	genome.wustl.edu	37	chr19	15300239	15300239	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccaggtgacacaggaggCctgggaagtggtaagcagaa	15	8	0	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:15300239C>A	ENST00000263388.2	-	7	1112	c.1037G>T	c.(1036-1038)gGc>gTc	p.G346V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	346	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACACAGGAGGCCTGGGAAGTG	0.527																																																	0								ENSG00000074181						82	89	87					19																	15300239		2203	4300	6503	NOTCH3	SO:0001630	splice_region_variant	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1037-1G>T	19.37:g.15300239C>A		Somatic	0	31	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G346V	ENST00000263388.2	37	c.1037	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161838	0.78226	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.98280	-4.84	4.68	4.68	0.58851	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99411	0.9792	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98175	1.0454	9	0.87932	D	0	.	16.4553	0.84011	0.0:1.0:0.0:0.0	.	349;346	Q59FL3;Q9UM47	.;NOTC3_HUMAN	V	346;348	ENSP00000263388:G346V	ENSP00000263388:G346V	G	-	2	0	NOTCH3	15161239	1.000000	0.71417	0.995000	0.50966	0.867000	0.49689	7.336000	0.79245	2.175000	0.68902	0.306000	0.20318	GGC	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.527	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	C	NM_000435	-	Missense_Mutation	15300239	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15300239	C	A	15300239	5	1	209	1	0	0	0	0	0	0	1	0	10552	753	26	3	6036	3	NOTCH3	19	15300239	Splice_Site	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	2088569	15300239	43828744	92	17185											
TEX101	83639	genome.wustl.edu	37	chr19	43920058	43920058	+	5'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccagctcctcccagacctCtccagaagaagccatgggaa	9	15	1	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:43920058C>A	ENST00000598265.1	+	0	153				TEX101_ENST00000602198.1_Missense_Mutation_p.S14Y|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.S14Y	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101							acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCCCAGACCTCTCCAGAAGAA	0.527																																																	0								ENSG00000131126						182	177	179					19																	43920058		2203	4300	6503	TEX101	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.-14C>A	19.37:g.43920058C>A		Somatic	0	62	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q7L5R2|Q9BPY7	Missense_Mutation	SNP							pfam_LY6_UPAR	p.S14Y	ENST00000598265.1	37	c.41	CCDS59393.1	19	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316224	0.40996	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.11385	2.78	3.61	1.28	0.21552	.	1.064920	0.07418	N	0.893529	T	0.23965	0.0580	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.67382	0.951	T	0.13953	-1.0490	9	0.56958	D	0.05	-1.4809	4.615	0.12422	0.2136:0.6682:0.0:0.1182	.	14	Q9BY14-2	.	Y	14;9	ENSP00000253435:S14Y	ENSP00000253435:S14Y	S	+	2	0	TEX101	48611898	0.126000	0.22350	0.004000	0.12327	0.028000	0.11728	2.019000	0.41001	0.439000	0.26476	0.563000	0.77884	TCT	-	NULL		0.527	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	TEX101	protein_coding	OTTHUMT00000463176.1	C	NM_031451	-		43920058	1	no_errors	ENST00000253435	ensembl	human	known	74_37	missense	SNP	0.005	A	A	43920058	C	A	43920058	1	1	209	0	1	0	0	0	0	0	0	0	15780	913	32	3		3	TEX101	19	43920058	5'UTR	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	28619819	43920058	15208925	93	17186											
ZNF404	342908	genome.wustl.edu	37	chr19	44377052	44377052	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacattccttacattcataGggtttctccccagcatgaat	5	13	2	1	rs545094704		TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:44377052G>T	ENST00000587539.1	-	3	1313	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	ZNF404_ENST00000324394.6_Silent_p.P436P	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	438					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(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TACATTCATAGGGTTTCTCCC	0.358																																																	0								ENSG00000176222						41	44	43					19																	44377052		2194	4297	6491	ZNF404	SO:0001819	synonymous_variant	0			-	HGNC	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1314C>A	19.37:g.44377052G>T		Somatic	0	43	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A4FU30|K7ELF2	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P438	ENST00000587539.1	37	c.1314	CCDS59394.1	19																																																																																			-	pfscan_Znf_C2H2		0.358	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	protein_coding	OTTHUMT00000460019.1	G	NM_001033719	-		44377052	-1	no_errors	ENST00000587539	ensembl	human	known	74_37	silent	SNP	0.747	T	T	44377052	G	T	44377052	2	4	209	1	0	0	0	0	0	0	0	1	17893	987	35	3		3	ZNF404	19	44377052	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	456994	44377052	14751931	94	17187											
KLK12	43849	genome.wustl.edu	37	chr19	51534120	51534120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggatacacaccatggCaggtggcatgggagacgatg	15	10	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:51534120C>A	ENST00000525263.1	-	4	634	c.515G>T	c.(514-516)tGc>tTc	p.C172F	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Silent_p.L85L|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000319590.4_Missense_Mutation_p.C172F|KLK12_ENST00000250351.4_Missense_Mutation_p.C172F|KLK12_ENST00000250352.11_Missense_Mutation_p.C62F|KLK11_ENST00000391804.3_5'Flank			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CACACCATGGCAGGTGGCATG	0.627																																																	0								ENSG00000186474						166	151	156					19																	51534120		2203	4300	6503	KLK12	SO:0001583	missense	0			-	HGNC		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.515G>T	19.37:g.51534120C>A	ENSP00000436458:p.Cys172Phe	Somatic	0	56	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q9UKR1|Q9UKR2	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C172F	ENST00000525263.1	37	c.515	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	c	14.27	2.485393	0.44147	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351	D;D;T;D	0.96992	-4.2;-4.2;0.5;-4.2	4.62	4.62	0.57501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39020	N	0.001489	D	0.98789	0.9592	H	0.97732	4.065	0.52501	D	0.999953	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	0.99327	1.0908	10	0.87932	D	0	.	14.9862	0.71351	0.0:1.0:0.0:0.0	.	62;62;172;172	B9EGA9;Q49AM7;Q9UKR0-2;Q9UKR0	.;.;.;KLK12_HUMAN	F	172;172;62;172	ENSP00000436458:C172F;ENSP00000324181:C172F;ENSP00000250352:C62F;ENSP00000250351:C172F	ENSP00000250351:C172F	C	-	2	0	KLK12	56225932	0.986000	0.35501	0.680000	0.29994	0.024000	0.10985	4.692000	0.61746	2.395000	0.81488	0.555000	0.69702	TGC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.627	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	protein_coding	OTTHUMT00000386288.1	C	NM_019598	-		51534120	-1	no_errors	ENST00000250351	ensembl	human	known	74_37	missense	SNP	0.930	A	A	51534120	C	A	51534120	3	1	209	1	0	0	0	0	1	0	0	0	8402	710	25	3	301	3	KLK12	19	51534120	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	7157068	51534120	7594863	95	17188											
PRKCG	5582	genome.wustl.edu	37	chr19	54395787	54395787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagccaggggatgtggaGcgccggctcagcgtggaggt	19	9	1	1	rs116236420	byFrequency	TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr19:54395787G>A	ENST00000263431.3	+	7	993	c.711G>A	c.(709-711)gaG>gaA	p.E237E	PRKCG_ENST00000536044.1_Silent_p.E237E|PRKCG_ENST00000540413.1_Silent_p.E237E|PRKCG_ENST00000542049.1_Silent_p.E124E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	237	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	GGGATGTGGAGCGCCGGCTCA	0.667																																																	0								ENSG00000126583						46	34	38					19																	54395787		2203	4300	6503	PRKCG	SO:0001819	synonymous_variant	0			-	HGNC	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.711G>A	19.37:g.54395787G>A		Somatic	0	204	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	79	30.70	B7Z8Q0	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.E237	ENST00000263431.3	37	c.711	CCDS12867.1	19																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom		0.667	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	protein_coding	OTTHUMT00000139233.3	G	NM_002739	-		54395787	1	no_errors	ENST00000540413	ensembl	human	known	74_37	silent	SNP	1.000	A	A	54395787	G	A	54395787	2	1	209	1	0	0	0	0	0	0	0	1	12517	962	34	2		2	PRKCG	19	54395787	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	2861667	54395787	4733196	96	17189											
LPIN3	64900	genome.wustl.edu	37	chr20	39977780	39977780	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaaagacatctacccCtactcggatggcgagtggcc	10	15	1	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr20:39977780C>A	ENST00000373257.3	+	5	697	c.606C>A	c.(604-606)ccC>ccA	p.P202P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	202					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACATCTACCCCTACTCGGATG	0.567																																																	0								ENSG00000132793						97	97	97					20																	39977780		2203	4300	6503	LPIN3	SO:0001819	synonymous_variant	0			-	HGNC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.606C>A	20.37:g.39977780C>A		Somatic	0	48	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP							pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.P202	ENST00000373257.3	37	c.606	CCDS33469.1	20																																																																																			-	NULL		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	protein_coding	OTTHUMT00000080393.1	C	NM_022896	-		39977780	1	no_errors	ENST00000373257	ensembl	human	known	74_37	silent	SNP	1.000	A	A	39977780	C	A	39977780	2	1	209	1	0	0	0	0	0	0	0	1	8922	668	24	3		3	LPIN3	20	39977780	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		39977780	23047740	97	17190											
SLC2A10	81031	genome.wustl.edu	37	chr20	45354435	45354435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccaacgtgctgtgctatGcctccaccatcttcagctcc	7	17	2	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr20:45354435G>T	ENST00000359271.2	+	2	1010	c.760G>T	c.(760-762)Gcc>Tcc	p.A254S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	254					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCTGTGCTATGCCTCCACCAT	0.632																																																	0								ENSG00000197496						120	108	112					20																	45354435		2203	4300	6503	SLC2A10	SO:0001583	missense	0			-	HGNC	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.760G>T	20.37:g.45354435G>T	ENSP00000352216:p.Ala254Ser	Somatic	0	27	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.A254S	ENST00000359271.2	37	c.760	CCDS13402.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.176295	0.94846	.	.	ENSG00000197496	ENST00000359271	T	0.73789	-0.78	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049209	0.85682	N	0.000000	T	0.81039	0.4740	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76745	-0.2846	10	0.27785	T	0.31	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	254	O95528	GTR10_HUMAN	S	254	ENSP00000352216:A254S	ENSP00000352216:A254S	A	+	1	0	SLC2A10	44787842	1.000000	0.71417	0.946000	0.38457	0.896000	0.52359	9.729000	0.98795	2.775000	0.95449	0.655000	0.94253	GCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SLC2A10	protein_coding	OTTHUMT00000079578.2	G		-		45354435	1	no_errors	ENST00000359271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45354435	G	T	45354435	3	4	209	1	0	0	0	0	1	0	0	0	14547	1319	46	3	766	3	SLC2A10	20	45354435	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	5376655	45354435	17671085	98	17191											
RSPH1	89765	genome.wustl.edu	37	chr21	43905899	43905899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtctccgcgtataaataGgtgccttgcccatgcctggt	10	14	1	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr21:43905899G>A	ENST00000291536.3	-	5	548	c.381C>T	c.(379-381)acC>acT	p.T127T	RSPH1_ENST00000398352.3_Silent_p.T89T	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	127					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CGTATAAATAGGTGCCTTGCC	0.517																																					Esophageal Squamous(23;63 706 6286 10288 12913)												0								ENSG00000160188						152	132	139					21																	43905899		2203	4300	6503	RSPH1	SO:0001819	synonymous_variant	0			-	HGNC	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.381C>T	21.37:g.43905899G>A		Somatic	0	53	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	A8MWV0|B2RBN9|Q3MJA1	Silent	SNP							pfam_MORN,smart_MORN	p.T127	ENST00000291536.3	37	c.381	CCDS13688.1	21																																																																																			-	pfam_MORN,smart_MORN		0.517	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	protein_coding	OTTHUMT00000195379.1	G		-		43905899	-1	no_errors	ENST00000291536	ensembl	human	known	74_37	silent	SNP	1.000	A	A	43905899	G	A	43905899	2	1	209	1	0	0	0	0	0	0	0	1	13710	987	35	2		2	RSPH1	21	43905899	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09		43905899	4223996	99	17192											
MYH9	4627	genome.wustl.edu	37	chr22	36680174	36680174	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggagctgacttcgcggttCatggcatcggccgtctcagt	14	11	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chr22:36680174C>A	ENST00000216181.5	-	40	5960	c.5730G>T	c.(5728-5730)atG>atT	p.M1910I	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1910					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTTCGCGGTTCATGGCATCGG	0.647			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								ENSG00000100345						69	78	75					22																	36680174		2203	4300	6503	MYH9	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5730G>T	22.37:g.36680174C>A	ENSP00000216181:p.Met1910Ile	Somatic	0	43	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1910I	ENST00000216181.5	37	c.5730	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502166	0.85176	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.77489	-1.1	4.57	4.57	0.56435	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	L	0.58428	1.81	0.80722	D	1	B	0.32365	0.367	B	0.39771	0.309	T	0.80848	-0.1199	10	0.56958	D	0.05	.	17.702	0.88298	0.0:1.0:0.0:0.0	.	1910	P35579	MYH9_HUMAN	I	1332;512;1910	ENSP00000216181:M1910I	ENSP00000216181:M1910I	M	-	3	0	MYH9	35010120	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.682000	0.84083	2.240000	0.73641	0.305000	0.20034	ATG	-	pfam_Myosin_tail		0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	C	NM_002473	-		36680174	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36680174	C	A	36680174	3	1	209	1	0	0	0	0	1	0	0	0	10044	826	29	3	160	3	MYH9	22	36680174	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		36680174	14624392	100	17193											
MXRA5	25878	genome.wustl.edu	37	chrX	3241893	3241893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atccttctgtttggaagaatCcagctaaggtgggcttcggg	13	8	1	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:3241893C>A	ENST00000217939.6	-	5	1987	c.1833G>T	c.(1831-1833)tgG>tgT	p.W611C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	611	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)				TTGGAAGAATCCAGCTAAGGT	0.458																																																	0								ENSG00000101825						83	72	76					X																	3241893		2203	4300	6503	MXRA5	SO:0001583	missense	0			-	HGNC	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.1833G>T	X.37:g.3241893C>A	ENSP00000217939:p.Trp611Cys	Somatic	0	35	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W611C	ENST00000217939.6	37	c.1833	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557994	0.45590	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.54675	0.56	3.95	3.95	0.45737	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38058	U	0.001838	T	0.80894	0.4711	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88041	0.2781	10	0.87932	D	0	.	15.7074	0.77594	0.0:1.0:0.0:0.0	.	611	Q9NR99	MXRA5_HUMAN	C	611	ENSP00000217939:W611C	ENSP00000217939:W611C	W	-	3	0	MXRA5	3251893	1.000000	0.71417	0.181000	0.23098	0.328000	0.28507	6.358000	0.73055	1.597000	0.50072	0.525000	0.51046	TGG	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	C	NM_015419	-		3241893	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	SNP	1.000	A	A	3241893	C	A	3241893	3	1	209	1	0	0	0	0	1	0	0	0	10005	856	30	3	6665	3	MXRA5	23	3241893	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09		3241893	152028667	101	17194											
CACNA1F	778	genome.wustl.edu	37	chrX	49075837	49075837	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcggccagggacacactgctGaggatgatgaacaccaggat	14	10	0	3			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:49075837G>T	ENST00000376265.2	-	21	2710	c.2649C>A	c.(2647-2649)ctC>ctA	p.L883L	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000376251.1_Silent_p.L818L|CACNA1F_ENST00000323022.5_Silent_p.L872L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	883					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACACACTGCTGAGGATGATGA	0.597																																																	0								ENSG00000102001						103	81	88					X																	49075837		2203	4300	6503	CACNA1F	SO:0001819	synonymous_variant	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2649C>A	X.37:g.49075837G>T		Somatic	0	42	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L883	ENST00000376265.2	37	c.2649	CCDS35253.1	X																																																																																			-	NULL		0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	G	NM_005183	-		49075837	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49075837	G	T	49075837	2	4	209	1	0	0	0	0	0	0	0	1	2545	1277	45	3		3	CACNA1F	23	49075837	Silent	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	45833944	49075837	106194723	102	17195											
SHROOM4	57477	genome.wustl.edu	37	chrX	50377783	50377784	+	Frame_Shift_Ins	INS	-	-	C													ggagctccatccctttgctgINScccctggtatcaaggtgcac							TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:50377783_50377784insC	ENST00000289292.7	-	4	1572_1573	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	SHROOM4_ENST00000376020.2_Frame_Shift_Ins_p.G430fs|SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.G314fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	430					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCCTTTGCTGCCCCTGGTATC	0.594																																																	0								ENSG00000158352																																			SHROOM4	SO:0001589	frameshift_variant	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1290dupG	X.37:g.50377787_50377787dupC	ENSP00000289292:p.Gly430fs	Somatic	0	15	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Ins	INS							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S431fs	ENST00000289292.7	37	c.1290_1289	CCDS35277.1	X																																																																																			-	NULL		0.594	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50377784	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.005	C	C	50377784	-	C	50377783	7	5	209	1	0	1	1	0	0	0	0	0	14304	1306	46	0	3215	0	SHROOM4	23	50377783	Frame_Shift_Ins	INS	-	TCGA-SG-A6Z4-01A-22D-A33E-09	1301946	50377783	104892777	103	17196											
PGAM4	441531	genome.wustl.edu	37	chrX	77224422	77224422	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttctatggctttgcacacCgtctcttcatcccccagaaa	6	15	3	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:77224422C>A	ENST00000458128.1	-	1	713	c.714G>T	c.(712-714)acG>acT	p.T238T	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	238					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CTTTGCACACCGTCTCTTCAT	0.557																																																	0								ENSG00000226784						64	59	61					X																	77224422		2203	4296	6499	PGAM4	SO:0001819	synonymous_variant	0			-	HGNC	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.714G>T	X.37:g.77224422C>A		Somatic	0	72	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP							pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.T238	ENST00000458128.1	37	c.714	CCDS35338.1	X																																																																																			-	tigrfam_Phosphogly_mut1		0.557	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM4	protein_coding	OTTHUMT00000128371.2	C	NM_001029891	-		77224422	-1	no_errors	ENST00000458128	ensembl	human	known	74_37	silent	SNP	0.991	A	A	77224422	C	A	77224422	2	1	209	1	0	0	0	0	0	0	0	1	11777	639	23	3		3	PGAM4	23	77224422	Silent	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	26846639	77224422	78046138	104	17197											
DACH2	117154	genome.wustl.edu	37	chrX	85404005	85404005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgtactgttgagcaGgtccggatcctccgcgggct	16	10	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:85404005G>T	ENST00000373125.4	+	1	381	c.381G>T	c.(379-381)caG>caT	p.Q127H	DACH2_ENST00000373131.1_Missense_Mutation_p.Q127H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	127	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGTTGAGCAGGTCCGGATCC	0.542																																																	0								ENSG00000126733						73	69	70					X																	85404005		2202	4300	6502	DACH2	SO:0001583	missense	0			-	HGNC	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.381G>T	X.37:g.85404005G>T	ENSP00000362217:p.Gln127His	Somatic	0	67	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP							pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.Q127H	ENST00000373125.4	37	c.381	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208734	0.58343	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.89746	-2.56;-2.56	4.5	3.41	0.39046	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.48286	D	0.000194	D	0.93446	0.7909	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92697	0.6171	10	0.87932	D	0	.	9.6764	0.40043	0.1291:0.0:0.8709:0.0	.	127;127	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	H	127	ENSP00000362223:Q127H;ENSP00000362217:Q127H	ENSP00000345134:Q127H	Q	+	3	2	DACH2	85290661	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.949000	0.75971	0.659000	0.30945	0.544000	0.68410	CAG	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.542	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	protein_coding	OTTHUMT00000359266.1	G	NM_053281	-		85404005	1	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85404005	G	T	85404005	3	4	209	1	0	0	0	0	1	0	0	0	4223	991	35	3	383	3	DACH2	23	85404005	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	8179583	85404005	69866555	105	17198											
SEPT6	23157	genome.wustl.edu	37	chrX	118797518	118797518	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttagcctcacgttgctctCttggaggtcataggtattag	10	9	3	0			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:118797518C>A	ENST00000343984.5	-	3	532	c.268G>T	c.(268-270)Gag>Tag	p.E90*	SEPT6_ENST00000354416.3_Nonsense_Mutation_p.E90*|SEPT6_ENST00000360156.7_Nonsense_Mutation_p.E90*|SEPT6_ENST00000394610.1_Nonsense_Mutation_p.E90*|SEPT6_ENST00000489216.1_Nonsense_Mutation_p.E90*|SEPT6_ENST00000394617.2_Nonsense_Mutation_p.E120*|SEPT6_ENST00000394616.4_Nonsense_Mutation_p.E32*|SEPT6_ENST00000354228.4_Nonsense_Mutation_p.E90*	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	90	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ACGTTGCTCTCTTGGAGGTCA	0.552			T	MLL	AML																																			Dom	yes		X	Xq24	23157	septin 6		L	0								ENSG00000125354						251	239	243					X																	118797518		2203	4300	6503	SEPT6	SO:0001587	stop_gained	0			-	HGNC	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.268G>T	X.37:g.118797518C>A	ENSP00000341524:p.Glu90*	Somatic	0	40	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Nonsense_Mutation	SNP							pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.E120*	ENST00000343984.5	37	c.358	CCDS14584.1	X	.	.	.	.	.	.	.	.	.	.	c	39	7.538332	0.98345	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	.	.	.	4.58	4.58	0.56647	.	0.092177	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1652	0.81750	0.0:1.0:0.0:0.0	.	.	.	.	X	90;90;90;90;90;90;32;120;90	.	ENSP00000341524:E90X	E	-	1	0	SEPT6	118681546	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.439000	0.80444	2.211000	0.71520	0.597000	0.82753	GAG	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin		0.552	SEPT6-001	KNOWN	basic|CCDS	protein_coding	SEPT6	protein_coding	OTTHUMT00000058059.1	C	NM_145802	-		118797518	-1	no_errors	ENST00000394617	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	118797518	C	A	118797518	4	1	209	1	0	0	0	0	0	1	0	0	14076	922	32	3	1090	3	SEPT6	23	118797518	Nonsense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	33393513	118797518	36473042	106	17199											
OCRL	4952	genome.wustl.edu	37	chrX	128703302	128703302	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagaggaacaaatgttaatCagcttaattatcggagtcac	10	6	2	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:128703302C>A	ENST00000371113.4	+	15	1693	c.1528C>A	c.(1528-1530)Cag>Aag	p.Q510K	OCRL_ENST00000357121.5_Missense_Mutation_p.Q510K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	510	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAATGTTAATCAGCTTAATTA	0.423																																																	0								ENSG00000122126						173	160	164					X																	128703302		2203	4300	6503	OCRL	SO:0001583	missense	0			-	HGNC	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1528C>A	X.37:g.128703302C>A	ENSP00000360154:p.Gln510Lys	Somatic	0	38	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q510K	ENST00000371113.4	37	c.1528	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565694	0.86439	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95238	-3.65;-3.65	5.82	4.96	0.65561	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.170703	0.53938	D	0.000054	D	0.97692	0.9243	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.963	D	0.97423	1.0010	10	0.34782	T	0.22	.	12.714	0.57105	0.0:0.9183:0.0:0.0817	.	510;510	Q01968-2;Q01968	.;OCRL_HUMAN	K	510	ENSP00000360154:Q510K;ENSP00000349635:Q510K	ENSP00000349635:Q510K	Q	+	1	0	OCRL	128530983	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.476000	0.81055	1.206000	0.43276	0.500000	0.49745	CAG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	protein_coding	OTTHUMT00000058917.1	C	NM_000276	-		128703302	1	no_errors	ENST00000371113	ensembl	human	known	74_37	missense	SNP	1.000	A	A	128703302	C	A	128703302	3	1	209	1	0	0	0	0	1	0	0	0	10825	827	29	3	1586	3	OCRL	23	128703302	Missense_Mutation	SNP	C	TCGA-SG-A6Z4-01A-22D-A33E-09	9905784	128703302	26567258	107	17200											
MAGEA11	4110	genome.wustl.edu	37	chrX	148798137	148798137	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaggggaactgcatccctGaagaggttatgtgggaagtc	16	6	0	2			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:148798137G>T	ENST00000355220.5	+	5	1093	c.991G>T	c.(991-993)Gaa>Taa	p.E331*	MAGEA11_ENST00000333104.4_Nonsense_Mutation_p.E302*	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	331	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGCATCCCTGAAGAGGTTAT	0.507																																																	0								ENSG00000185247						133	131	132					X																	148798137		2203	4300	6503	MAGEA11	SO:0001587	stop_gained	0			-	HGNC		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.991G>T	X.37:g.148798137G>T	ENSP00000347358:p.Glu331*	Somatic	0	26	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q5ETU4|Q6ZRZ5	Nonsense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E331*	ENST00000355220.5	37	c.991	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	10.14	1.267162	0.23136	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	.	.	.	0.909	0.909	0.19332	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8361	0.13466	0.0:0.0:1.0:0.0	.	.	.	.	X	302;331	.	.	E	+	1	0	MAGEA11	148576268	0.138000	0.22547	0.004000	0.12327	0.007000	0.05969	2.052000	0.41316	0.721000	0.32231	0.377000	0.23210	GAA	-	pfam_MAGE,pfscan_MAGE		0.507	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	protein_coding	OTTHUMT00000058725.4	G	NM_005366	-		148798137	1	no_errors	ENST00000355220	ensembl	human	known	74_37	nonsense	SNP	0.004	T	T	148798137	G	T	148798137	4	4	209	1	0	0	0	0	0	1	0	0	9167	1291	45	3	1018	3	MAGEA11	23	148798137	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	20094835	148798137	6472423	108	17201											
GPR50	9248	genome.wustl.edu	37	chrX	150349083	150349083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccgtgcccatgctcGcgaccaagctcgtgaacaag	11	17	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:150349083G>A	ENST00000218316.3	+	2	1097	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	343	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCATGCTCGCGACCAAGCT	0.577																																																	0								ENSG00000102195						98	102	101					X																	150349083		2130	4211	6341	GPR50	SO:0001583	missense	0			-	HGNC	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1028G>A	X.37:g.150349083G>A	ENSP00000218316:p.Arg343His	Somatic	0	20	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	0	100.00	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.R343H	ENST00000218316.3	37	c.1028	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597722	0.46318	.	.	ENSG00000102195	ENST00000218316	T	0.59638	0.25	3.9	2.07	0.26955	.	0.962914	0.08481	N	0.939498	T	0.41442	0.1159	N	0.24115	0.695	0.09310	N	1	B	0.25486	0.127	B	0.17722	0.019	T	0.30995	-0.9959	10	0.54805	T	0.06	-1.4039	6.943	0.24502	0.1079:0.1733:0.7187:0.0	.	343	Q13585	MTR1L_HUMAN	H	343	ENSP00000218316:R343H	ENSP00000218316:R343H	R	+	2	0	GPR50	150099741	0.217000	0.23597	0.010000	0.14722	0.005000	0.04900	0.199000	0.17237	0.255000	0.21593	-0.344000	0.07964	CGC	-	prints_Mel_rcpt_1X		0.577	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	protein_coding	OTTHUMT00000060874.1	G	NM_004224	-		150349083	1	no_errors	ENST00000218316	ensembl	human	known	74_37	missense	SNP	0.041	A	A	150349083	G	A	150349083	3	1	209	1	0	0	0	0	1	0	0	0	6699	1087	38	1	1034	1	GPR50	23	150349083	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	1550946	150349083	4921477	109	17202											
DUSP9	1852	genome.wustl.edu	37	chrX	152915639	152915639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactttgagcgcagcttgcGgctggaggagcgccactcgc	16	12	0	1			TCGA-SG-A6Z4-01A-22D-A33E-09	TCGA-SG-A6Z4-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f4df9e0-c36b-46fd-b7f3-4912fcb9fc49	eb6b6f4d-e3e1-4475-b6be-0e23e379f2a5	g.chrX:152915639G>T	ENST00000342782.3	+	4	1299	c.1034G>T	c.(1033-1035)cGg>cTg	p.R345L	DUSP9_ENST00000370167.4_Missense_Mutation_p.R345L			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	345	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCTTGCGGCTGGAGGAG	0.612																																																	0								ENSG00000130829						135	120	125					X																	152915639		2203	4300	6503	DUSP9	SO:0001583	missense	0			-	HGNC	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1034G>T	X.37:g.152915639G>T	ENSP00000345853:p.Arg345Leu	Somatic	0	38	0		0.589146060132756				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	D3DWU5	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.R345L	ENST00000342782.3	37	c.1034	CCDS14724.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.73|11.73	1.726264|1.726264	0.30593|0.30593	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|T;T	.|0.58940	.|0.3;0.3	4.53|4.53	0.781|0.781	0.18561|0.18561	.|Dual specificity phosphatase, subgroup, catalytic domain (1);	.|1.080270	.|0.07212	.|N	.|0.859447	T|T	0.44138|0.44138	0.1279|0.1279	L|L	0.31371|0.31371	0.925|0.925	0.39684|0.39684	D|D	0.970946|0.970946	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.17319|0.17319	-1.0373|-1.0373	5|10	.|0.28530	.|T	.|0.3	.|.	9.0401|9.0401	0.36311|0.36311	0.3625:0.0:0.6375:0.0|0.3625:0.0:0.6375:0.0	.|.	.|345	.|Q99956	.|DUS9_HUMAN	C|L	316|345	.|ENSP00000359186:R345L;ENSP00000345853:R345L	.|ENSP00000345853:R345L	G|R	+|+	1|2	0|0	DUSP9|DUSP9	152568833|152568833	1.000000|1.000000	0.71417|0.71417	0.075000|0.075000	0.20258|0.20258	0.389000|0.389000	0.30415|0.30415	4.836000|4.836000	0.62789|0.62789	0.137000|0.137000	0.18759|0.18759	0.529000|0.529000	0.55759|0.55759	GGC|CGG	-	pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat		0.612	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	protein_coding	OTTHUMT00000061022.3	G	NM_001395	-		152915639	1	no_errors	ENST00000342782	ensembl	human	known	74_37	missense	SNP	0.993	T	T	152915639	G	T	152915639	3	4	209	1	0	0	0	0	1	0	0	0	4834	1116	39	3	1044	3	DUSP9	23	152915639	Missense_Mutation	SNP	G	TCGA-SG-A6Z4-01A-22D-A33E-09	2566556	152915639	2354921	110	17203											
CCDC27	148870	genome.wustl.edu	37	chr1	3683994	3683994	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacacccgcgtggccctggaGagctcccagtccagggtatg	13	15	0	1	rs145881374		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:3683994G>C	ENST00000294600.2	+	10	1812	c.1728G>C	c.(1726-1728)gaG>gaC	p.E576D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	576										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGCCCTGGAGAGCTCCCAGT	0.647																																																	0								ENSG00000162592						39	33	35					1																	3683994		2203	4300	6503	CCDC27	SO:0001583	missense	0			-	HGNC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1728G>C	1.37:g.3683994G>C	ENSP00000294600:p.Glu576Asp	Somatic	0	28	0		0.682009056863981	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	50.00	Q5TBV3|Q96M50	Missense_Mutation	SNP							superfamily_Prefoldin	p.E576D	ENST00000294600.2	37	c.1728	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411804	0.25465	.	.	ENSG00000162592	ENST00000294600	T	0.34072	1.38	5.3	2.4	0.29515	.	0.000000	0.56097	D	0.000027	T	0.53384	0.1793	M	0.65498	2.005	0.22620	N	0.998928	D	0.71674	0.998	D	0.77557	0.99	T	0.45775	-0.9238	10	0.54805	T	0.06	-35.3497	9.921	0.41464	0.2497:0.0:0.7503:0.0	.	576	Q2M243	CCD27_HUMAN	D	576	ENSP00000294600:E576D	ENSP00000294600:E576D	E	+	3	2	CCDC27	3673854	0.985000	0.35326	0.139000	0.22197	0.430000	0.31655	1.813000	0.38962	-0.002000	0.14469	-0.797000	0.03246	GAG	-	NULL		0.647	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	G	NM_152492	-		3683994	1	no_errors	ENST00000294600	ensembl	human	known	74_37	missense	SNP	0.288	C	C	3683994	G	C	3683994	3	2	210	1	0	0	0	0	1	0	0	0	2803	933	33	4	1766	4	CCDC27	1	3683994	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09		3683994	245566627	1	17204											
LRP8	7804	genome.wustl.edu	37	chr1	53728180	53728180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgccggtccacaccgTtgagcccagatttctcaatc	9	13	1	2	rs201950519		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:53728180T>C	ENST00000306052.6	-	11	1813	c.1712A>G	c.(1711-1713)aAc>aGc	p.N571S	LRP8_ENST00000465675.1_Missense_Mutation_p.N124S|LRP8_ENST00000371454.2_Missense_Mutation_p.N571S|LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000347547.2_Missense_Mutation_p.N401S|LRP8_ENST00000354412.3_Missense_Mutation_p.N442S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	571					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTCCACACCGTTGAGCCCAGA	0.517													T|||	1	0.000199681	0	0	5008	,	,		20210	0		0.001	False		,,,				2504	0																0								ENSG00000157193	T	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	226	223	224		1712,1712,1325,1202	5.6	1	1		224	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	LRP8	NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3	46,46,46,46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	571/905,571/964,442/701,401/794	53728180	3,13003	2203	4300	6503	LRP8	SO:0001583	missense	0			-	HGNC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1712A>G	1.37:g.53728180T>C	ENSP00000303634:p.Asn571Ser	Somatic	0	85	0		0.682009056863981	3	78.57	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	60	44.95	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.N571S	ENST00000306052.6	37	c.1712	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020248	0.93462	0.0	3.49E-4	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.95837	0.8645	L	0.58510	1.815	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;0.988;0.998;1.0;1.0	D;D;D;P;D;D	0.83275	0.996;0.986;0.933;0.899;0.993;0.996	D	0.96244	0.9178	9	0.87932	D	0	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	124;442;401;571;571;124	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	S	571;571;124;442;401	ENSP00000303634:N571S;ENSP00000360509:N571S;ENSP00000437009:N124S;ENSP00000346391:N442S;ENSP00000334522:N401S	ENSP00000303634:N571S	N	-	2	0	LRP8	53500768	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.795000	0.85887	2.367000	0.80283	0.528000	0.53228	AAC	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.517	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	protein_coding	OTTHUMT00000024699.1	T	NM_004631	rs201950519		53728180	-1	no_errors	ENST00000306052	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53728180	T	C	53728180	3	2	210	1	0	0	0	0	1	0	0	0	8965	1725	60	5	1215	5	LRP8	1	53728180	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09	50044186	53728180	195522441	2	17205											
IL12RB2	3595	genome.wustl.edu	37	chr1	67787498	67787498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttccccttggtacaaCcttgtttgtctgcaaactgg	9	11	2	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:67787498C>T	ENST00000262345.1	+	3	930	c.290C>T	c.(289-291)aCc>aTc	p.T97I	IL12RB2_ENST00000544434.1_Missense_Mutation_p.T97I|IL12RB2_ENST00000541374.1_Missense_Mutation_p.T97I|IL12RB2_ENST00000371000.1_Missense_Mutation_p.T97I	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	97					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTTGGTACAACCTTGTTTGTC	0.398																																																	0								ENSG00000081985						174	165	168					1																	67787498		2203	4300	6503	IL12RB2	SO:0001583	missense	0			-	HGNC	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.290C>T	1.37:g.67787498C>T	ENSP00000262345:p.Thr97Ile	Somatic	0	54	0		0.682009056863981	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	63	21.25	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T97I	ENST00000262345.1	37	c.290	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483132	0.63962	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.95	5.95	0.96441	Immunoglobulin C2-set-like, ligand-binding (1);	0.185546	0.56097	D	0.000021	T	0.76688	0.4022	L	0.36672	1.1	0.29554	N	0.851157	D;D;D;D	0.76494	0.966;0.996;0.997;0.999	P;D;D;D	0.77557	0.779;0.918;0.954;0.99	T	0.70981	-0.4724	10	0.29301	T	0.29	-28.3281	15.8928	0.79312	0.0:1.0:0.0:0.0	.	97;97;97;97	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	I	97	ENSP00000262345:T97I;ENSP00000360039:T97I;ENSP00000445276:T97I;ENSP00000442443:T97I	ENSP00000262345:T97I	T	+	2	0	IL12RB2	67560086	0.106000	0.21978	0.100000	0.21137	0.003000	0.03518	2.328000	0.43867	2.819000	0.97034	0.650000	0.86243	ACC	-	pfam_IgC2-like_lig-bd		0.398	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	protein_coding	OTTHUMT00000025202.2	C	NM_001559	-		67787498	1	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	SNP	0.385	T	T	67787498	C	T	67787498	3	4	210	1	0	0	0	0	1	0	0	0	7629	507	18	2	296	2	IL12RB2	1	67787498	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	14059318	67787498	181463123	3	17206											
KCNA3	3738	genome.wustl.edu	37	chr1	111215812	111215812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggggtctgggggaaagcGctatggttcatacccccctc	13	11	2	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:111215812G>A	ENST00000369769.2	-	1	1843	c.1620C>T	c.(1618-1620)agC>agT	p.S540S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	540				S -> T (in Ref. 5; AAA36425). {ECO:0000305}.	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)			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)	GGGGGAAAGCGCTATGGTTCA	0.498																																																	0								ENSG00000177272						135	124	128					1																	111215812		2203	4300	6503	KCNA3	SO:0001819	synonymous_variant	0			-	HGNC	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.1620C>T	1.37:g.111215812G>A		Somatic	0	64	0		0.682009056863981	3	76.92	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	41	45.45	Q5VWN2	Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S540	ENST00000369769.2	37	c.1620	CCDS828.2	1																																																																																			-	NULL		0.498	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	protein_coding	OTTHUMT00000083391.1	G	NM_002232	-		111215812	-1	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	SNP	0.998	A	A	111215812	G	A	111215812	2	1	210	1	0	0	0	0	0	0	0	1	8006	1078	38	1		1	KCNA3	1	111215812	Silent	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	43428314	111215812	138034809	4	17207											
PI4KB	5298	genome.wustl.edu	37	chr1	151288732	151288732	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accatccccattgaccaactCcagtggggtgcctctgctag	9	15	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:151288732C>A	ENST00000368873.1	-	2	394	c.226G>T	c.(226-228)Gag>Tag	p.E76*	PI4KB_ENST00000368875.2_Nonsense_Mutation_p.E88*|PI4KB_ENST00000271657.5_Nonsense_Mutation_p.E88*|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Nonsense_Mutation_p.E76*|PI4KB_ENST00000368874.4_Nonsense_Mutation_p.E76*			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	76	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			TTGACCAACTCCAGTGGGGTG	0.587																																					Colon(154;765 1838 9854 28443 37492)												0								ENSG00000143393						109	90	96					1																	151288732		2203	4300	6503	PI4KB	SO:0001587	stop_gained	0			-	HGNC	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.226G>T	1.37:g.151288732C>A	ENSP00000357867:p.Glu76*	Somatic	0	27	0		0.682009056863981	269	15.94	51	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E88*	ENST00000368873.1	37	c.262		1	.	.	.	.	.	.	.	.	.	.	C	37	5.997883	0.97184	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	.	.	.	5.53	3.64	0.41730	.	0.461817	0.23356	N	0.049062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-7.6825	10.0429	0.42169	0.0:0.7862:0.1387:0.0751	.	.	.	.	X	76;88;88;76;76;76	.	ENSP00000271657:E88X	E	-	1	0	PI4KB	149555356	0.131000	0.22433	0.997000	0.53966	0.859000	0.49053	1.375000	0.34295	0.872000	0.35775	0.655000	0.94253	GAG	-	NULL		0.587	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	protein_coding	OTTHUMT00000034400.3	C	NM_002651	-		151288732	-1	no_errors	ENST00000271657	ensembl	human	known	74_37	nonsense	SNP	0.991	A	A	151288732	C	A	151288732	4	1	210	1	0	0	0	0	0	1	0	0	11876	864	30	3	2268	3	PI4KB	1	151288732	Nonsense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	40072920	151288732	97961889	5	17208											
LCE2B	26239	genome.wustl.edu	37	chr1	152659563	152659563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacaggccccgtctcttcCaccggcgccggcaccagagc	10	20	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:152659563C>A	ENST00000368780.3	+	2	298	c.244C>A	c.(244-246)Cac>Aac	p.H82N	LCE2B_ENST00000417924.2_Missense_Mutation_p.H82N	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	82	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTCTCTTCCACCGGCGCCG	0.682																																																	0								ENSG00000159455						47	62	57					1																	152659563		2201	4295	6496	LCE2B	SO:0001583	missense	0			-	HGNC	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.244C>A	1.37:g.152659563C>A	ENSP00000357769:p.His82Asn	Somatic	0	67	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	160	10.11	Q5TA80	Missense_Mutation	SNP							NULL	p.H82N	ENST00000368780.3	37	c.244	CCDS1020.1	1	.	.	.	.	.	.	.	.	.	.	C	7.352	0.623157	0.14193	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03951	3.75;3.75	2.24	2.24	0.28232	.	.	.	.	.	T	0.02610	0.0079	M	0.83012	2.62	0.09310	N	1	P	0.40619	0.724	B	0.29267	0.1	T	0.31081	-0.9956	9	0.87932	D	0	.	7.9165	0.29820	0.0:1.0:0.0:0.0	.	82	O14633	LCE2B_HUMAN	N	82	ENSP00000414043:H82N;ENSP00000357769:H82N	ENSP00000357769:H82N	H	+	1	0	LCE2B	150926187	0.001000	0.12720	0.002000	0.10522	0.323000	0.28346	0.992000	0.29667	1.235000	0.43724	0.313000	0.20887	CAC	-	NULL		0.682	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	protein_coding	OTTHUMT00000034524.1	C	NM_014357	-		152659563	1	no_errors	ENST00000368780	ensembl	human	known	74_37	missense	SNP	0.004	A	A	152659563	C	A	152659563	3	1	210	1	0	0	0	0	1	0	0	0	8668	594	21	3	246	3	LCE2B	1	152659563	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	1370831	152659563	96591058	6	17209			1	94		2	2	30	C		5.90161e-05
LCE2B	26239	genome.wustl.edu	37	chr1	152659592	152659592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaccagagccccgactgCtgtgagagtgaaccttctgg	13	13	1	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:152659592C>T	ENST00000368780.3	+	2	327	c.273C>T	c.(271-273)tgC>tgT	p.C91C	LCE2B_ENST00000417924.2_Silent_p.C91C	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	91	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCGACTGCTGTGAGAGTG	0.632																																																	0								ENSG00000159455						36	48	44					1																	152659592		2198	4287	6485	LCE2B	SO:0001819	synonymous_variant	0			-	HGNC	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.273C>T	1.37:g.152659592C>T		Somatic	0	87	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	187	12.62	Q5TA80	Silent	SNP							NULL	p.C91	ENST00000368780.3	37	c.273	CCDS1020.1	1																																																																																			-	NULL		0.632	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2B	protein_coding	OTTHUMT00000034524.1	C	NM_014357	-		152659592	1	no_errors	ENST00000368780	ensembl	human	known	74_37	silent	SNP	0.532	T	T	152659592	C	T	152659592	2	4	210	1	0	0	0	0	0	0	0	1	8668	805	28	2		2	LCE2B	1	152659592	Silent	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	29	152659592	96591029	7	17210			1	94		2	2	30	C		5.90161e-05
LCE1A	353131	genome.wustl.edu	37	chr1	152800190	152800190	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacaggtcccaccgtcacaGactccagagctctggctgct	9	17	2	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr1:152800190G>A	ENST00000335123.2	+	1	242	c.242G>A	c.(241-243)aGa>aAa	p.R81K		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	81	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	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)			CACCGTCACAGACTCCAGAGC	0.697																																																	0								ENSG00000186844						20	25	23					1																	152800190		2187	4290	6477	LCE1A	SO:0001583	missense	0			-	HGNC		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.242G>A	1.37:g.152800190G>A	ENSP00000334869:p.Arg81Lys	Somatic	0	29	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	72	11.11		Missense_Mutation	SNP							NULL	p.R81K	ENST00000335123.2	37	c.242	CCDS1028.1	1	.	.	.	.	.	.	.	.	.	.	G	2.564	-0.301115	0.05495	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.03860	3.78;3.78	4.13	-0.0229	0.13945	.	0.195264	0.25380	N	0.031086	T	0.02418	0.0074	M	0.81112	2.525	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33548	-0.9864	10	0.87932	D	0	.	6.334	0.21287	0.4733:0.0:0.5267:0.0	.	81	Q5T7P2	LCE1A_HUMAN	K	81	ENSP00000357755:R81K;ENSP00000334869:R81K	ENSP00000334869:R81K	R	+	2	0	LCE1A	151066814	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.254000	0.18314	-0.091000	0.12440	-0.253000	0.11424	AGA	-	NULL		0.697	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1A	protein_coding	OTTHUMT00000034660.2	G	NM_178348	-		152800190	1	no_errors	ENST00000335123	ensembl	human	known	74_37	missense	SNP	0.002	A	A	152800190	G	A	152800190	3	1	210	1	0	0	0	0	1	0	0	0	8661	942	33	2	244	2	LCE1A	1	152800190	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	140598	152800190	96450431	8	17211											
NOL10	79954	genome.wustl.edu	37	chr2	10811749	10811749	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctcccaaactttggtattCtggttttgtagtaaaaacct	6	9	2	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr2:10811749C>G	ENST00000381685.5	-	6	500	c.395G>C	c.(394-396)aGa>aCa	p.R132T	NOL10_ENST00000345985.3_Missense_Mutation_p.R132T|NOL10_ENST00000542668.1_Missense_Mutation_p.R82T|NOL10_ENST00000538384.1_Missense_Mutation_p.R106T	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	132						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTTGGTATTCTGGTTTTGTA	0.338																																																	0								ENSG00000115761						90	88	89					2																	10811749		2203	4299	6502	NOL10	SO:0001583	missense	0			-	HGNC	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.395G>C	2.37:g.10811749C>G	ENSP00000371101:p.Arg132Thr	Somatic	0	81	0		0.682009056863981	22	33.33	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	63	41.12	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP							pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R132T	ENST00000381685.5	37	c.395	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805517	0.90623	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384;ENST00000431319	D;T;D;T;D	0.87029	-2.2;2.85;-2.2;2.77;-2.2	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95878	0.8658	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.992;0.997	D	0.96610	0.9451	10	0.87932	D	0	-24.2709	19.8195	0.96586	0.0:1.0:0.0:0.0	.	106;132;132	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	T	132;132;82;106;23	ENSP00000263837:R132T;ENSP00000371101:R132T;ENSP00000437625:R82T;ENSP00000439663:R106T;ENSP00000403170:R23T	ENSP00000263837:R132T	R	-	2	0	NOL10	10729200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	2.756000	0.94617	0.655000	0.94253	AGA	-	superfamily_WD40_repeat_dom		0.338	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	protein_coding	OTTHUMT00000239227.1	C	NM_024894	-		10811749	-1	no_errors	ENST00000381685	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10811749	C	G	10811749	3	3	210	1	0	0	0	0	1	0	0	0	10522	913	32	4	1735	4	NOL10	2	10811749	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		10811749	232387624	9	17212											
STK17B	9262	genome.wustl.edu	37	chr2	197028089	197028089	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctgaaatacttcggcaatCaaatctcctcctcgacatgt	6	13	2	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr2:197028089C>G	ENST00000263955.4	-	2	305	c.19G>C	c.(19-21)Gat>Cat	p.D7H	STK17B_ENST00000409228.1_Missense_Mutation_p.D7H	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	7					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTTCGGCAATCAAATCTCCTC	0.338																																																	0								ENSG00000081320						79	82	81					2																	197028089		2203	4300	6503	STK17B	SO:0001583	missense	0			-	HGNC	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.19G>C	2.37:g.197028089C>G	ENSP00000263955:p.Asp7His	Somatic	0	118	0		0.682009056863981	58	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	126	24.55		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D7H	ENST00000263955.4	37	c.19	CCDS2315.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003750	0.74932	.	.	ENSG00000081320	ENST00000263955;ENST00000409228;ENST00000420683	T;T;T	0.68624	-0.34;-0.34;1.37	5.38	5.38	0.77491	.	0.128787	0.34700	N	0.003745	T	0.58323	0.2114	N	0.19112	0.55	0.52501	D	0.999959	P	0.49961	0.93	P	0.44732	0.459	T	0.65005	-0.6273	10	0.72032	D	0.01	.	17.5001	0.87728	0.0:1.0:0.0:0.0	.	7	O94768	ST17B_HUMAN	H	7	ENSP00000263955:D7H;ENSP00000386853:D7H;ENSP00000399755:D7H	ENSP00000263955:D7H	D	-	1	0	STK17B	196736334	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.009000	0.49552	2.813000	0.96785	0.655000	0.94253	GAT	-	NULL		0.338	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	protein_coding	OTTHUMT00000256092.2	C		-		197028089	-1	no_errors	ENST00000263955	ensembl	human	known	74_37	missense	SNP	1.000	G	G	197028089	C	G	197028089	3	3	210	1	0	0	0	0	1	0	0	0	15298	826	29	4	1127	4	STK17B	2	197028089	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	186216340	197028089	46171284	10	17213			2	95		2	2	12	C		2.238583e-05
STK17B	9262	genome.wustl.edu	37	chr2	197028100	197028100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcaatcaaatctcctcCtcgacatgttaggtgattcc	7	12	2	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr2:197028100C>T	ENST00000263955.4	-	2	294	c.8G>A	c.(7-9)aGg>aAg	p.R3K	STK17B_ENST00000409228.1_Missense_Mutation_p.R3K	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	3					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AAATCTCCTCCTCGACATGTT	0.343																																																	0								ENSG00000081320						74	77	76					2																	197028100		2203	4300	6503	STK17B	SO:0001583	missense	0			-	HGNC	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.8G>A	2.37:g.197028100C>T	ENSP00000263955:p.Arg3Lys	Somatic	0	125	0		0.682009056863981	70	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	129	25.43		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R3K	ENST00000263955.4	37	c.8	CCDS2315.1	2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532232	0.45073	.	.	ENSG00000081320	ENST00000263955;ENST00000409228;ENST00000420683;ENST00000449152	T;T;T	0.67171	-0.25;-0.25;0.92	5.38	5.38	0.77491	.	0.000000	0.50627	D	0.000112	T	0.71091	0.3299	N	0.24115	0.695	0.46901	D	0.999249	P	0.52842	0.956	D	0.65010	0.931	T	0.72040	-0.4410	10	0.49607	T	0.09	.	17.5001	0.87728	0.0:1.0:0.0:0.0	.	3	O94768	ST17B_HUMAN	K	3	ENSP00000263955:R3K;ENSP00000386853:R3K;ENSP00000399755:R3K	ENSP00000263955:R3K	R	-	2	0	STK17B	196736345	0.950000	0.32346	0.948000	0.38648	0.344000	0.29017	3.029000	0.49712	2.813000	0.96785	0.655000	0.94253	AGG	-	NULL		0.343	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	protein_coding	OTTHUMT00000256092.2	C		-		197028100	-1	no_errors	ENST00000263955	ensembl	human	known	74_37	missense	SNP	0.982	T	T	197028100	C	T	197028100	3	4	210	1	0	0	0	0	1	0	0	0	15298	681	24	2	1138	2	STK17B	2	197028100	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	11	197028100	46171273	11	17214			2	95		2	2	12	C		2.238583e-05
PASK	23178	genome.wustl.edu	37	chr2	242062177	242062177	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttccttgtccacagcagtCcacacgaagccgaaggcccc	8	16	0	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr2:242062177C>T	ENST00000405260.1	-	12	3740	c.3042G>A	c.(3040-3042)tgG>tgA	p.W1014*	PASK_ENST00000539818.1_Nonsense_Mutation_p.W798*|PASK_ENST00000358649.4_Nonsense_Mutation_p.W1014*|PASK_ENST00000403638.3_Nonsense_Mutation_p.W1014*|PASK_ENST00000234040.4_Nonsense_Mutation_p.W1014*|PASK_ENST00000544142.1_Nonsense_Mutation_p.W828*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCACAGCAGTCCACACGAAGC	0.602																																																	0								ENSG00000115687						90	96	94					2																	242062177		2203	4300	6503	PASK	SO:0001587	stop_gained	0			-	HGNC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3042G>A	2.37:g.242062177C>T	ENSP00000384016:p.Trp1014*	Somatic	0	36	0		0.682009056863981	15	48.28	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	42	56.25	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS	p.W1014*	ENST00000405260.1	37	c.3042	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	C	47	13.549198	0.99749	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	4.57	4.57	0.56435	.	0.000000	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4983	0.75673	0.0:1.0:0.0:0.0	.	.	.	.	X	1014;828;1014;1014;798;1014	.	ENSP00000234040:W1014X	W	-	3	0	PASK	241710850	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	6.073000	0.71245	2.240000	0.73641	0.555000	0.69702	TGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	protein_coding	OTTHUMT00000323753.1	C	NM_015148	-		242062177	-1	no_errors	ENST00000358649	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	242062177	C	T	242062177	4	4	210	1	0	0	0	0	0	1	0	0	11474	856	30	2	957	2	PASK	2	242062177	Nonsense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	45034077	242062177	1137196	12	17215											
PASK	23178	genome.wustl.edu	37	chr2	242062301	242062301	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggctcctcaaaccagggtCtggctctgagcacctgcaat	12	13	3	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr2:242062301C>T	ENST00000405260.1	-	12	3616	c.2918G>A	c.(2917-2919)aGa>aAa	p.R973K	PASK_ENST00000539818.1_Missense_Mutation_p.R757K|PASK_ENST00000358649.4_Missense_Mutation_p.R973K|PASK_ENST00000403638.3_Missense_Mutation_p.R973K|PASK_ENST00000234040.4_Missense_Mutation_p.R973K|PASK_ENST00000544142.1_Missense_Mutation_p.R787K	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	973					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAACCAGGGTCTGGCTCTGAG	0.622																																																	0								ENSG00000115687						51	53	53					2																	242062301		2203	4300	6503	PASK	SO:0001583	missense	0			-	HGNC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2918G>A	2.37:g.242062301C>T	ENSP00000384016:p.Arg973Lys	Somatic	0	32	0		0.682009056863981	28	30	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	40	48.72	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS	p.R973K	ENST00000405260.1	37	c.2918	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.000945	0.00431	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.07;-0.11;0.93	4.57	1.8	0.24995	.	0.627629	0.13999	N	0.348234	T	0.16514	0.0397	N	0.00138	-2.015	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.36841	-0.9731	10	0.02654	T	1	.	4.419	0.11470	0.0:0.2195:0.2218:0.5587	.	938;787;973;973;973	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	K	973;787;973;973;757;973	ENSP00000234040:R973K;ENSP00000441374:R787K;ENSP00000384016:R973K;ENSP00000351475:R973K;ENSP00000443083:R757K;ENSP00000384438:R973K	ENSP00000234040:R973K	R	-	2	0	PASK	241710974	0.001000	0.12720	0.608000	0.28969	0.058000	0.15608	-0.530000	0.06179	0.175000	0.19841	-0.474000	0.04947	AGA	-	NULL		0.622	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	protein_coding	OTTHUMT00000323753.1	C	NM_015148	-		242062301	-1	no_errors	ENST00000358649	ensembl	human	known	74_37	missense	SNP	0.010	T	T	242062301	C	T	242062301	3	4	210	1	0	0	0	0	1	0	0	0	11474	913	32	2	1081	2	PASK	2	242062301	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	124	242062301	1137072	13	17216											
VIPR1	7433	genome.wustl.edu	37	chr3	42569500	42569500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaagctccactgcacgcGgaactacatccacatgcacc	8	16	0	0	rs201431086		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr3:42569500G>T	ENST00000325123.4	+	6	634	c.521G>T	c.(520-522)cGg>cTg	p.R174L	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.R133L|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.R126L|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	174					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)			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)		CACTGCACGCGGAACTACATC	0.592																																																	0								ENSG00000114812						197	165	176					3																	42569500		2203	4300	6503	VIPR1	SO:0001583	missense	0			-	HGNC	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.521G>T	3.37:g.42569500G>T	ENSP00000327246:p.Arg174Leu	Somatic	0	47	0		0.682009056863981	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.R174L	ENST00000325123.4	37	c.521	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300624	0.81136	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000325123	T;T;T	0.35789	1.29;1.29;1.29	4.73	4.73	0.59995	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	T	0.57184	0.2036	H	0.94886	3.595	0.80722	D	1	B;B;B	0.22683	0.073;0.006;0.073	B;B;B	0.32624	0.149;0.01;0.149	T	0.66567	-0.5891	10	0.87932	D	0	.	16.4438	0.83909	0.0:0.0:1.0:0.0	.	147;126;174	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	L	133;126;174	ENSP00000394950:R133L;ENSP00000445701:R126L;ENSP00000327246:R174L	ENSP00000327246:R174L	R	+	2	0	VIPR1	42544504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.744000	0.98853	2.156000	0.67533	0.591000	0.81541	CGG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.592	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	protein_coding	OTTHUMT00000254728.4	G	NM_004624	-		42569500	1	no_errors	ENST00000325123	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42569500	G	T	42569500	3	4	210	1	0	0	0	0	1	0	0	0	17176	1116	39	3	543	3	VIPR1	3	42569500	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09		42569500	155452930	14	17217											
PLCH1	23007	genome.wustl.edu	37	chr3	155200815	155200815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttatacttgctttcccTtttcttctgccatctttatc	2	12	4	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr3:155200815T>C	ENST00000340059.7	-	23	3023	c.3024A>G	c.(3022-3024)aaA>aaG	p.K1008K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.K970K|PLCH1_ENST00000414191.1_Silent_p.K970K|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.K970K|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1008					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCTTTCCCTTTTCTTCTGC	0.393																																																	0								ENSG00000114805						135	144	141					3																	155200815		2203	4300	6503	PLCH1	SO:0001819	synonymous_variant	0			-	HGNC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3024A>G	3.37:g.155200815T>C		Somatic	0	31	0		0.682009056863981	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K1008	ENST00000340059.7	37	c.3024	CCDS46939.1	3																																																																																			-	NULL		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	T	NM_014996	-		155200815	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	silent	SNP	0.000	C	C	155200815	T	C	155200815	2	2	210	1	0	0	0	0	0	0	0	1	12039	1606	56	5		5	PLCH1	3	155200815	Silent	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09	112631315	155200815	42821615	15	17218											
TIPARP	25976	genome.wustl.edu	37	chr3	156396350	156396350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgattctcaggagcaCttggaaagattttactgtaa	8	6	2	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr3:156396350C>T	ENST00000461166.1	+	2	1452	c.864C>T	c.(862-864)caC>caT	p.H288H	TIPARP_ENST00000542783.1_Silent_p.H288H|TIPARP_ENST00000295924.7_Silent_p.H288H|TIPARP_ENST00000486483.1_Silent_p.H288H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	288					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCAGGAGCACTTGGAAAGAT	0.368																																					Ovarian(171;276 1987 3319 6837 11197)												0								ENSG00000163659						75	76	76					3																	156396350		2203	4300	6503	TIPARP	SO:0001819	synonymous_variant	0			-	HGNC	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.864C>T	3.37:g.156396350C>T		Somatic	0	51	0		0.682009056863981	38	48.65	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	15	50.00	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.H288	ENST00000461166.1	37	c.864	CCDS3177.1	3																																																																																			-	NULL		0.368	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	protein_coding	OTTHUMT00000351618.1	C	NM_015508	-		156396350	1	no_errors	ENST00000295924	ensembl	human	known	74_37	silent	SNP	1.000	T	T	156396350	C	T	156396350	2	4	210	1	0	0	0	0	0	0	0	1	15931	564	20	2		2	TIPARP	3	156396350	Silent	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	1195535	156396350	41626080	16	17219											
SLIT2	9353	genome.wustl.edu	37	chr4	20611715	20611715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctttgtccgtggatGgtgggaaccccaaaatcatc	10	11	3	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr4:20611715G>A	ENST00000504154.1	+	34	4024	c.3772G>A	c.(3772-3774)Ggt>Agt	p.G1258S	SLIT2_ENST00000273739.5_Missense_Mutation_p.G1271S|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1254S|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1250S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1258	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCCGTGGATGGTGGGAACCC	0.433																																																	0								ENSG00000145147						180	163	169					4																	20611715		2203	4300	6503	SLIT2	SO:0001583	missense	0			-	HGNC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3772G>A	4.37:g.20611715G>A	ENSP00000422591:p.Gly1258Ser	Somatic	0	71	0		0.682009056863981	66	53.19	75	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	38	44.12	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G1258S	ENST00000504154.1	37	c.3772	CCDS3426.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.296264|5.296264	0.95574|0.95574	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837|ENST00000512993	T;T;T;T|.	0.73047|.	-0.71;-0.71;-0.71;-0.71|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.052988|.	0.85682|.	D|.	0.000000|.	T|T	0.70868|0.70868	0.3273|0.3273	L|L	0.48218|0.48218	1.51|1.51	0.80722|0.80722	D|D	1|1	P;D|.	0.56746|.	0.694;0.977|.	B;P|.	0.61722|.	0.379;0.893|.	T|T	0.64106|0.64106	-0.6485|-0.6485	10|5	0.21014|.	T|.	0.42|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1250;1258|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	S|I	1250;1258;1271;1254;1254|41	ENSP00000427548:G1250S;ENSP00000422591:G1258S;ENSP00000273739:G1271S;ENSP00000422261:G1254S|.	ENSP00000273739:G1271S|.	G|M	+|+	1|3	0|0	SLIT2|SLIT2	20220813|20220813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	9.810000|9.810000	0.99221|0.99221	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGT|ATG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	G		-		20611715	1	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20611715	G	A	20611715	3	1	210	1	0	0	0	0	1	0	0	0	14748	1348	47	2	3906	2	SLIT2	4	20611715	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09		20611715	170542561	17	17220											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23833358	23833358	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagcaagtttgcctcaTtctcttcatctatcttctgc	5	13	6	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr4:23833358T>A	ENST00000264867.2	-	3	370	c.251A>T	c.(250-252)aAt>aTt	p.N84I	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	84					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTTGCCTCATTCTCTTCATC	0.463																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0								ENSG00000109819						256	216	230					4																	23833358		2203	4300	6503	PPARGC1A	SO:0001583	missense	0			-	HGNC	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.251A>T	4.37:g.23833358T>A	ENSP00000264867:p.Asn84Ile	Somatic	0	39	0		0.682009056863981	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N84I	ENST00000264867.2	37	c.251	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	T	17.48	3.401158	0.62288	.	.	ENSG00000109819	ENST00000264867	T	0.39592	1.07	6.03	4.84	0.62591	.	0.040398	0.85682	D	0.000000	T	0.62196	0.2408	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.59288	0.855	T	0.67473	-0.5662	10	0.87932	D	0	-7.6645	10.869	0.46872	0.0:0.1303:0.0:0.8697	.	84	Q9UBK2	PRGC1_HUMAN	I	84	ENSP00000264867:N84I	ENSP00000264867:N84I	N	-	2	0	PPARGC1A	23442456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.244000	0.51399	1.090000	0.41315	0.533000	0.62120	AAT	-	NULL		0.463	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	protein_coding	OTTHUMT00000214976.1	T	NM_013261	-		23833358	-1	no_errors	ENST00000264867	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23833358	T	A	23833358	3	1	210	1	0	0	0	0	1	0	0	0	12302	1493	52	5	2189	5	PPARGC1A	4	23833358	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09	3221643	23833358	167320918	18	17221											
HSD17B11	51170	genome.wustl.edu	37	chr4	88303510	88303510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcagctgtttcctccagtCcatgctagaaaaagcaaaaa	8	10	0	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr4:88303510C>T	ENST00000358290.4	-	2	530	c.215G>A	c.(214-216)gGa>gAa	p.G72E	HSD17B11_ENST00000507286.1_Missense_Mutation_p.G72E	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	72					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTCCTCCAGTCCATGCTAGAA	0.373																																																	0								ENSG00000198189						129	134	132					4																	88303510		2203	4300	6503	HSD17B11	SO:0001583	missense	0			-	HGNC	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.215G>A	4.37:g.88303510C>T	ENSP00000351035:p.Gly72Glu	Somatic	0	85	0		0.682009056863981	234	11.7	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.54	Q96HF6|Q9UKU4	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G72E	ENST00000358290.4	37	c.215	CCDS3619.1	4	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415141	0.83449	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.89746	-2.56;0.73	5.47	5.47	0.80525	NAD(P)-binding domain (1);	0.074260	0.56097	D	0.000032	D	0.92306	0.7559	L	0.40543	1.245	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	D	0.92960	0.6388	10	0.72032	D	0.01	.	18.9346	0.92580	0.0:1.0:0.0:0.0	.	72	Q8NBQ5	DHB11_HUMAN	E	72	ENSP00000351035:G72E;ENSP00000423775:G72E	ENSP00000351035:G72E	G	-	2	0	HSD17B11	88522534	0.995000	0.38212	1.000000	0.80357	0.946000	0.59487	4.997000	0.63921	2.552000	0.86080	0.591000	0.81541	GGA	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.373	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	protein_coding	OTTHUMT00000253041.1	C	NM_016245	-		88303510	-1	no_errors	ENST00000358290	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88303510	C	T	88303510	3	4	210	1	0	0	0	0	1	0	0	0	7382	855	30	2	711	2	HSD17B11	4	88303510	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	64470152	88303510	102850766	19	17222											
ENPEP	2028	genome.wustl.edu	37	chr4	111397679	111397679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattaatagtgggacttgccGtgggcttgaccagatcgtgt	14	7	0	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr4:111397679G>A	ENST00000265162.5	+	1	451	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	37					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)		GGGACTTGCCGTGGGCTTGAC	0.607																																																	0								ENSG00000138792						196	181	186					4																	111397679		2203	4300	6503	ENPEP	SO:0001583	missense	0			-	HGNC	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.109G>A	4.37:g.111397679G>A	ENSP00000265162:p.Val37Met	Somatic	0	40	0		0.682009056863981	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q504U2	Missense_Mutation	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V37M	ENST00000265162.5	37	c.109	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893019	0.72524	.	.	ENSG00000138792	ENST00000265162	T	0.01430	4.9	5.57	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	M	0.66939	2.045	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.05146	-1.0903	10	0.72032	D	0.01	.	10.3745	0.44075	0.0699:0.0:0.7964:0.1337	.	37	Q07075	AMPE_HUMAN	M	37	ENSP00000265162:V37M	ENSP00000265162:V37M	V	+	1	0	ENPEP	111617128	1.000000	0.71417	0.869000	0.34112	0.891000	0.51852	4.321000	0.59209	1.372000	0.46190	-0.698000	0.03680	GTG	-	NULL		0.607	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	protein_coding	OTTHUMT00000255747.2	G		-		111397679	1	no_errors	ENST00000265162	ensembl	human	known	74_37	missense	SNP	0.975	A	A	111397679	G	A	111397679	3	1	210	1	0	0	0	0	1	0	0	0	5130	1145	40	1	111	1	ENPEP	4	111397679	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	23094169	111397679	79756597	20	17223											
FAT4	79633	genome.wustl.edu	37	chr4	126371057	126371057	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagatcgaggtaaaccttcCttaattagtgagacaacagt	8	8	1	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr4:126371057C>A	ENST00000394329.3	+	9	8899	c.8886C>A	c.(8884-8886)tcC>tcA	p.S2962S	FAT4_ENST00000335110.5_Silent_p.S1260S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2962	Cadherin 28. {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						GTAAACCTTCCTTAATTAGTG	0.333																																																	0								ENSG00000196159						66	68	68					4																	126371057		2203	4299	6502	FAT4	SO:0001819	synonymous_variant	0			-	HGNC	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.8886C>A	4.37:g.126371057C>A		Somatic	0	53	0		0.682009056863981	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2962	ENST00000394329.3	37	c.8886	CCDS3732.3	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.333	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	C	NM_024582	-		126371057	1	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	SNP	0.000	A	A	126371057	C	A	126371057	2	1	210	1	0	0	0	0	0	0	0	1	5694	668	24	3		3	FAT4	4	126371057	Silent	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	14973378	126371057	64783219	21	17224											
FAT1	2195	genome.wustl.edu	37	chr4	187629366	187629366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagccccagtctgatgcaCgaatcctcagagtataaacc	8	13	2	2	rs368802187		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr4:187629366C>T	ENST00000441802.2	-	2	1825	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	539	Cadherin 4. {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						GTCTGATGCACGAATCCTCAG	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857	C	HIS/ARG	0,3880		0,0,1940	81	78	79		1616	5.6	0.1	4		79	1,8253		0,1,4126	no	missense	FAT1	NM_005245.3	29	0,1,6066	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	539/4589	187629366	1,12133	1940	4127	6067	FAT1	SO:0001583	missense	0			-	HGNC	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.1616G>A	4.37:g.187629366C>T	ENSP00000406229:p.Arg539His	Somatic	0	39	0		0.682009056863981	52	16.13	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60		Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.R539H	ENST00000441802.2	37	c.1616	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527316	0.64860	0.0	1.21E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.20738	2.05	5.58	5.58	0.84498	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04915	-1.0918	10	0.33141	T	0.24	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	539	Q14517	FAT1_HUMAN	H	539	ENSP00000406229:R539H	ENSP00000260147:R539H	R	-	2	0	FAT1	187866360	1.000000	0.71417	0.087000	0.20705	0.180000	0.23129	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	CGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245	-		187629366	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	0.973	T	T	187629366	C	T	187629366	3	4	210	1	0	0	0	0	1	0	0	0	5691	536	19	1	12254	1	FAT1	4	187629366	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	61258309	187629366	3524910	22	17225											
ELL2	22936	genome.wustl.edu	37	chr5	95249513	95249513	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtttgataacttttgtgcttCggttgcgggattcctcctct	10	9	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr5:95249513C>G	ENST00000237853.4	-	4	792	c.443G>C	c.(442-444)cGa>cCa	p.R148P	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	148					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTTGTGCTTCGGTTGCGGGA	0.418																																																	0								ENSG00000118985						191	191	191					5																	95249513		2203	4300	6503	ELL2	SO:0001583	missense	0			-	HGNC	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.443G>C	5.37:g.95249513C>G	ENSP00000237853:p.Arg148Pro	Somatic	0	52	0		0.682009056863981	107	42.47	79	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	31	46.55	B4DNK7	Missense_Mutation	SNP							pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R148P	ENST00000237853.4	37	c.443	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870765	0.91587	.	.	ENSG00000118985	ENST00000237853	T	0.32753	1.44	5.49	5.49	0.81192	.	0.182978	0.49916	D	0.000137	T	0.60612	0.2282	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64245	-0.6453	10	0.87932	D	0	-2.0343	19.3344	0.94309	0.0:1.0:0.0:0.0	.	148	O00472	ELL2_HUMAN	P	148	ENSP00000237853:R148P	ENSP00000237853:R148P	R	-	2	0	ELL2	95275269	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.030000	0.57260	2.740000	0.93945	0.563000	0.77884	CGA	-	pfam_RNA_pol_II_elong_fac_ELL		0.418	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	protein_coding	OTTHUMT00000242846.1	C	NM_012081	-		95249513	-1	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	SNP	1.000	G	G	95249513	C	G	95249513	3	3	210	1	0	0	0	0	1	0	0	0	5065	884	31	4	1515	4	ELL2	5	95249513	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		95249513	85665747	23	17226											
WWC1	23286	genome.wustl.edu	37	chr5	167881030	167881032	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaagaggaggaggaggtGgaggaggaggagggagaaga					rs111457550|rs28429769|rs28421695|rs376909223	byFrequency	TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr5:167881030_167881032delGGA	ENST00000265293.4	+	18	3085_3087	c.2583_2585delGGA	c.(2581-2586)gtggag>gtg	p.E865del	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_In_Frame_Del_p.E865del	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	865	Glu-rich.|Interaction with histone H3.			Missing (in Ref. 6; AAO73817). {ECO:0000305}.	cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aggaggaggtggaggaggaggag	0.547																																																	0								ENSG00000113645		,,	2323,1941		637,1049,446					,,	-0.6	0.1		dbSNP_132	92	1828,6426		217,1394,2516	no	coding,coding,coding	WWC1	NM_015238.2,NM_001161662.1,NM_001161661.1	,,	854,2443,2962	A1A1,A1R,RR		22.1468,45.5206,33.1602	,,	,,		4151,8367				WWC1	SO:0001651	inframe_deletion	0				HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2583_2585delGGA	5.37:g.167881039_167881041delGGA	ENSP00000265293:p.Glu865del	Somatic	0	35	0		0.682009056863981	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	In_Frame_Del	DEL							pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E865in_frame_del	ENST00000265293.4	37	c.2583_2585	CCDS4366.1	5																																																																																			-	NULL		0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	GGA	NM_015238			167881032	1	no_errors	ENST00000265293	ensembl	human	known	74_37	in_frame_del	DEL	0.823:0.847:0.815	-	-	167881032	GGA	-	167881030	7	5	210	1	0	1	0	1	0	0	0	0	17418	1335	47	0	2653	0	WWC1	5	167881030	In_Frame_Del	DEL	GGA	TCGA-SG-A6Z7-01A-12D-A32I-09	72631517	167881030	13034230	24	17227											
ABT1	29777	genome.wustl.edu	37	chr6	26597314	26597314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaatccgaagaagCggcctgtggcagcaagaaac	15	9	0	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr6:26597314C>T	ENST00000274849.1	+	1	135	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	35					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCCGAAGAAGCGGCCTGTGGC	0.622																																																	0								ENSG00000146109						70	80	77					6																	26597314		2203	4300	6503	ABT1	SO:0001583	missense	0			-	HGNC	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.104C>T	6.37:g.26597314C>T	ENSP00000274849:p.Ala35Val	Somatic	0	33	0		0.682009056863981	239	31.53	111	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	46	36.99		Missense_Mutation	SNP							NULL	p.A35V	ENST00000274849.1	37	c.104	CCDS4616.1	6	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437563	0.25900	.	.	ENSG00000146109	ENST00000274849	.	.	.	4.27	2.44	0.29823	.	0.932943	0.09022	N	0.860004	T	0.10294	0.0252	L	0.47716	1.5	0.09310	N	1	B	0.30824	0.296	B	0.25140	0.058	T	0.28744	-1.0034	9	0.29301	T	0.29	-5.2338	2.6808	0.05093	0.208:0.5321:0.1561:0.1038	.	35	Q9ULW3	ABT1_HUMAN	V	35	.	ENSP00000274849:A35V	A	+	2	0	ABT1	26705293	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.179000	0.09768	0.709000	0.31976	-0.137000	0.14449	GCG	-	NULL		0.622	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABT1	protein_coding	OTTHUMT00000043698.1	C		-		26597314	1	no_errors	ENST00000274849	ensembl	human	known	74_37	missense	SNP	0.001	T	T	26597314	C	T	26597314	3	4	210	1	0	0	0	0	1	0	0	0	101	768	27	1	106	1	ABT1	6	26597314	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		26597314	144517753	25	17228											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90564622	90564622	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggaactgcaaaggagGcaacatataatgatgtatgg	12	4	0	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr6:90564622G>A	ENST00000551025.1	+	0	1648									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGCAAAGGAGGCAACATATAA	0.373																																					Colon(187;1656 2025 17045 31481 39901)												0								ENSG00000118412						67	61	63					6																	90564622		1850	4096	5946	CASP8AP2			0			-	HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90564622G>A		Somatic	0	36	0		0.682009056863981	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67		RNA	SNP							-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.373	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		G	NM_001137667	-		90564622	1	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	SNP	1.000	A	A	90564622	G	A	90564622	1	1	210	0	1	0	0	0	0	0	0	0	2680	1203	42	2		2	CASP8AP2	6	90564622	RNA	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	63967308	90564622	80550445	26	17229											
DSE	29940	genome.wustl.edu	37	chr6	116757666	116757666	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagcttcactgtccacggaGactctcagcaactggatgtg	11	11	2	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr6:116757666G>A	ENST00000331677.3	+	7	2479	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	DSE_ENST00000452085.3_Missense_Mutation_p.D679N|DSE_ENST00000359564.2_Missense_Mutation_p.D679N|DSE_ENST00000537543.1_Missense_Mutation_p.D698N			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	679					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGTCCACGGAGACTCTCAGCA	0.527																																																	0								ENSG00000111817						102	97	98					6																	116757666		2203	4300	6503	DSE	SO:0001583	missense	0			-	HGNC	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2035G>A	6.37:g.116757666G>A	ENSP00000332151:p.Asp679Asn	Somatic	0	33	0		0.682009056863981	242	3.2	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	73	8.75	Q5R3K6	Missense_Mutation	SNP							superfamily_Chondroitin_lyas	p.D698N	ENST00000331677.3	37	c.2092	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066582	0.36470	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	6.01	5.14	0.70334	.	0.086719	0.85682	D	0.000000	T	0.48314	0.1493	L	0.43152	1.355	0.80722	D	1	B;B	0.34181	0.44;0.44	B;B	0.40864	0.342;0.256	T	0.53982	-0.8361	10	0.45353	T	0.12	-16.6199	15.1954	0.73084	0.0673:0.0:0.9327:0.0	.	698;679	B7Z765;Q9UL01	.;DSE_HUMAN	N	679;698;679;679	ENSP00000404049:D679N;ENSP00000441152:D698N;ENSP00000332151:D679N;ENSP00000352567:D679N	ENSP00000332151:D679N	D	+	1	0	DSE	116864359	1.000000	0.71417	0.099000	0.21106	0.062000	0.15995	8.012000	0.88631	1.552000	0.49463	0.650000	0.86243	GAC	-	NULL		0.527	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	protein_coding	OTTHUMT00000041940.2	G	NM_013352	-		116757666	1	no_errors	ENST00000537543	ensembl	human	known	74_37	missense	SNP	0.998	A	A	116757666	G	A	116757666	3	1	210	1	0	0	0	0	1	0	0	0	4776	942	33	2	2053	2	DSE	6	116757666	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	26193044	116757666	54357401	27	17230											
RWDD1	51389	genome.wustl.edu	37	chr6	116910071	116910071	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtgcaagaaaaattaaatGaaatagtagatcagataaaa	7	3	1	4			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr6:116910071G>T	ENST00000466444.2	+	4	553	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	RWDD1_ENST00000487832.2_Nonsense_Mutation_p.E17*|RWDD1_ENST00000392526.1_Nonsense_Mutation_p.E17*	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	113	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AAAATTAAATGAAATAGTAGA	0.318																																																	0								ENSG00000111832						48	51	50					6																	116910071		2203	4293	6496	RWDD1	SO:0001587	stop_gained	0			-	HGNC	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.337G>T	6.37:g.116910071G>T	ENSP00000420357:p.Glu113*	Somatic	0	17	0		0.682009056863981	315	0.32	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	28.81	A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Nonsense_Mutation	SNP							pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.E113*	ENST00000466444.2	37	c.337	CCDS34520.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.791473	0.98492	.	.	ENSG00000111832	ENST00000466444;ENST00000368590;ENST00000392526;ENST00000487832;ENST00000518117;ENST00000468204	.	.	.	5.22	5.22	0.72569	.	0.045996	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.6256	18.738	0.91763	0.0:0.0:1.0:0.0	.	.	.	.	X	113;17;17;17;17;17	.	ENSP00000429070:E17X	E	+	1	0	RWDD1	117016764	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.878000	0.87231	2.413000	0.81919	0.585000	0.79938	GAA	-	superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain		0.318	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD1	protein_coding	OTTHUMT00000041952.2	G	NM_015952	-		116910071	1	no_errors	ENST00000466444	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	116910071	G	T	116910071	4	4	210	1	0	0	0	0	0	1	0	0	13762	1291	45	3	351	3	RWDD1	6	116910071	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	152405	116910071	54204996	28	17231											
TRDN	10345	genome.wustl.edu	37	chr6	123824870	123824870	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaatgtttacctttctGttcatgctttgacacagctg	7	10	3	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr6:123824870G>C	ENST00000398178.3	-	8	808	c.787C>G	c.(787-789)Cag>Gag	p.Q263E	TRDN_ENST00000334268.4_Missense_Mutation_p.Q263E|TRDN_ENST00000546248.1_Missense_Mutation_p.Q263E	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	263					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTACCTTTCTGTTCATGCTTT	0.398																																																	0								ENSG00000186439						161	147	152					6																	123824870		1914	4135	6049	TRDN	SO:0001583	missense	0			-	HGNC	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.787C>G	6.37:g.123824870G>C	ENSP00000381240:p.Gln263Glu	Somatic	0	47	0		0.682009056863981	0	100	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	31	64.77	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom	p.Q263E	ENST00000398178.3	37	c.787	CCDS55053.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.81|10.81	1.456804|1.456804	0.26161|0.26161	.|.	.|.	ENSG00000186439|ENSG00000186439	ENST00000361029|ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000333613	.|T;T;T	.|0.78126	.|0.08;0.08;-1.15	5.81|5.81	4.89|4.89	0.63831|0.63831	.|Aspartyl beta-hydroxylase/Triadin domain (1);	.|0.235206	.|0.35067	.|N	.|0.003473	T|T	0.69726|0.69726	0.3143|0.3143	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.44090	.|0.571;0.826;0.826;0.826	.|B;P;B;P	.|0.45195	.|0.173;0.473;0.388;0.473	T|T	0.69359|0.69359	-0.5166|-0.5166	5|10	.|0.32370	.|T	.|0.25	-5.9821|-5.9821	11.3322|11.3322	0.49484|0.49484	0.0:0.0:0.7462:0.2538|0.0:0.0:0.7462:0.2538	.|.	.|263;263;263;263	.|F5H2W7;Q5SWK9;Q8IVK2;Q13061	.|.;.;.;TRDN_HUMAN	K|E	101|263;263;263;263;263;263;168	.|ENSP00000381240:Q263E;ENSP00000333984:Q263E;ENSP00000439281:Q263E	.|ENSP00000329278:Q168E	N|Q	-|-	3|1	2|0	TRDN|TRDN	123866569|123866569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.755000|0.755000	0.42902|0.42902	1.952000|1.952000	0.40343|0.40343	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	AAC|CAG	-	pfam_Asp-B-hydro/Triadin_dom		0.398	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	protein_coding		G		-		123824870	-1	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	SNP	1.000	C	C	123824870	G	C	123824870	3	2	210	1	0	0	0	0	1	0	0	0	16475	1386	48	4	1538	4	TRDN	6	123824870	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	6914799	123824870	47290197	29	17232											
SYNE1	23345	genome.wustl.edu	37	chr6	152647594	152647594	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccaggttactatggaactGatcctctgtactgaaaaatt	7	9	1	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr6:152647594G>T	ENST00000367255.5	-	79	15731	c.15130C>A	c.(15130-15132)Cag>Aag	p.Q5044K	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q5044K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4973K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4973K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q4791K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5044					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)		CTATGGAACTGATCCTCTGTA	0.512										HNSCC(10;0.0054)																																							0								ENSG00000131018						98	101	100					6																	152647594		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.15130C>A	6.37:g.152647594G>T	ENSP00000356224:p.Gln5044Lys	Somatic	0	41	0		0.682009056863981	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q5044K	ENST00000367255.5	37	c.15130	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990517	0.35131	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.75	3.83	0.44106	.	0.111999	0.39909	N	0.001222	T	0.15349	0.0370	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.17465	0.022;0.003;0.003;0.006	B;B;B;B	0.14023	0.01;0.003;0.003;0.007	T	0.04495	-1.0947	10	0.25106	T	0.35	.	12.7034	0.57046	0.0:0.244:0.6433:0.1127	.	5044;5044;5044;4973	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	5044;4973;5044;4973;4791	ENSP00000356224:Q5044K;ENSP00000396024:Q4973K;ENSP00000265368:Q5044K;ENSP00000390975:Q4973K;ENSP00000341887:Q4791K	ENSP00000265368:Q5044K	Q	-	1	0	SYNE1	152689287	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	3.733000	0.55029	1.402000	0.46780	0.655000	0.94253	CAG	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961	-		152647594	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	0.992	T	T	152647594	G	T	152647594	3	4	210	1	0	0	0	0	1	0	0	0	15452	1299	45	3	11608	3	SYNE1	6	152647594	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	28822724	152647594	18467473	30	17233											
EGFR	1956	genome.wustl.edu	37	chr7	55231506	55231506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccatgaacatcacctGcacaggacgggtaagagccc	11	13	2	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr7:55231506G>A	ENST00000275493.2	+	14	1889	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	EGFR_ENST00000455089.1_Missense_Mutation_p.C526Y|EGFR_ENST00000342916.3_Missense_Mutation_p.C571Y|EGFR_ENST00000344576.2_Missense_Mutation_p.C571Y|EGFR_ENST00000442591.1_Missense_Mutation_p.C571Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C518Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	571					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)	AACATCACCTGCACAGGACGG	0.557		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													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								ENSG00000146648						133	124	127					7																	55231506		2203	4300	6503	EGFR	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	-	HGNC		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.1712G>A	7.37:g.55231506G>A	ENSP00000275493:p.Cys571Tyr	Somatic	0	23	0		0.682009056863981	64	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C571Y	ENST00000275493.2	37	c.1712	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584131	0.65992	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.65	5.65	0.86999	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88123	0.6352	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	D	0.91443	0.5175	10	0.87932	D	0	.	18.3001	0.90160	0.0:0.0:1.0:0.0	.	526;571;571;571	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	Y	526;571;441;571;571;571;518;365	ENSP00000415559:C526Y;ENSP00000342376:C571Y;ENSP00000345973:C571Y;ENSP00000275493:C571Y;ENSP00000410031:C571Y;ENSP00000395243:C518Y	ENSP00000275493:C571Y	C	+	2	0	EGFR	55199000	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	9.098000	0.94202	2.678000	0.91216	0.655000	0.94253	TGC	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat		0.557	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	protein_coding	OTTHUMT00000251456.2	G	NM_005228	-		55231506	1	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55231506	G	A	55231506	3	1	210	1	0	0	0	0	1	0	0	0	4969	1319	46	2	1777	2	EGFR	7	55231506	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09		55231506	103907157	31	17234											
OR2F1	26211	genome.wustl.edu	37	chr7	143658017	143658017	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcaaagctggcaacttgActcatgagtatgacttagag	9	8	2	4			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr7:143658017A>G	ENST00000392899.1	+	1	991	c.954A>G	c.(952-954)tgA>tgG	p.*318W	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	0					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGCAACTTGACTCATGAGTA	0.458																																																	0								ENSG00000213215						39	40	40					7																	143658017		2201	4298	6499	OR2F1	SO:0001578	stop_lost	0			-	HGNC	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.954A>G	7.37:g.143658017A>G	ENSP00000376633:p.*318Trpext*6	Somatic	0	51	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Nonstop_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*318W	ENST00000392899.1	37	c.954	CCDS5887.1	7	.	.	.	.	.	.	.	.	.	.	A	9.243	1.038684	0.19669	.	.	ENSG00000213215	ENST00000392899	.	.	.	5.11	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3629	0.26756	0.9024:0.0:0.0976:0.0	.	.	.	.	W	318	.	.	X	+	3	0	OR2F1	143288950	0.604000	0.26932	0.162000	0.22713	0.002000	0.02628	0.540000	0.23191	0.969000	0.38237	0.533000	0.62120	TGA	-	NULL		0.458	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	protein_coding	OTTHUMT00000349581.1	A		-		143658017	1	no_errors	ENST00000392899	ensembl	human	known	74_37	nonstop	SNP	0.360	G	G	143658017	A	G	143658017	4	3	210	1	0	0	0	0	0	0	0	0	10998	288	10	5	956	5	OR2F1	7	143658017	Nonstop_Mutation	SNP	A	TCGA-SG-A6Z7-01A-12D-A32I-09	88426511	143658017	15480646	32	17235											
MFHAS1	9258	genome.wustl.edu	37	chr8	8748843	8748843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccagtgcctcgtccaCcaccttggccaagcggctca	11	18	1	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr8:8748843C>T	ENST00000276282.6	-	1	2312	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	576	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCCTCGTCCACCACCTTGGCC	0.647																																					Melanoma(103;1201 2045 17515 28966)												0								ENSG00000147324						49	43	45					8																	8748843		2203	4300	6503	MFHAS1	SO:0001583	missense	0			-	HGNC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1726G>A	8.37:g.8748843C>T	ENSP00000276282:p.Val576Met	Somatic	0	43	0		0.682009056863981	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q96CI0	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp	p.V576M	ENST00000276282.6	37	c.1726	CCDS34844.1	8	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707556	0.68615	.	.	ENSG00000147324	ENST00000276282	T	0.37058	1.22	5.15	5.15	0.70609	ROC GTPase (1);	0.000000	0.64402	D	0.000002	T	0.39517	0.1081	L	0.43152	1.355	0.58432	D	0.999998	D	0.57257	0.979	P	0.47044	0.535	T	0.11966	-1.0566	10	0.39692	T	0.17	.	17.8055	0.88600	0.0:1.0:0.0:0.0	.	576	Q9Y4C4	MFHA1_HUMAN	M	576	ENSP00000276282:V576M	ENSP00000276282:V576M	V	-	1	0	MFHAS1	8786253	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.294000	0.78760	2.668000	0.90789	0.563000	0.77884	GTG	-	superfamily_P-loop_NTPase		0.647	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	protein_coding	OTTHUMT00000374724.2	C	NM_004225	-		8748843	-1	no_errors	ENST00000276282	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8748843	C	T	8748843	3	4	210	1	0	0	0	0	1	0	0	0	9523	507	18	2	1444	2	MFHAS1	8	8748843	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		8748843	137615179	33	17236											
PRKDC	5591	genome.wustl.edu	37	chr8	48765289	48765289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctagaacttctgctgcagcgGcatacacttctttatatctt	6	11	3	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr8:48765289G>C	ENST00000314191.2	-	53	7003	c.6947C>G	c.(6946-6948)gCc>gGc	p.A2316G	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2316G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2317					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGCTGCAGCGGCATACACTTC	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						90	81	84					8																	48765289		1850	4099	5949	PRKDC	SO:0001583	missense	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6947C>G	8.37:g.48765289G>C	ENSP00000313420:p.Ala2316Gly	Somatic	0	48	0		0.682009056863981	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A2316G	ENST00000314191.2	37	c.6947		8	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649349	0.29336	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66099	-0.19;-0.19	4.63	4.63	0.57726	Armadillo-type fold (1);	0.074348	0.52532	D	0.000071	T	0.59555	0.2202	M	0.73598	2.24	0.41370	D	0.987484	B;B	0.18013	0.025;0.025	B;B	0.16289	0.015;0.015	T	0.59445	-0.7453	10	0.37606	T	0.19	.	10.1487	0.42780	0.0944:0.0:0.9056:0.0	.	2316;2317	E7EUY0;P78527	.;PRKDC_HUMAN	G	2316	ENSP00000313420:A2316G;ENSP00000345182:A2316G	ENSP00000313420:A2316G	A	-	2	0	PRKDC	48927842	1.000000	0.71417	0.998000	0.56505	0.561000	0.35649	4.088000	0.57678	2.260000	0.74910	0.655000	0.94253	GCC	-	superfamily_ARM-type_fold		0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		G	NM_001081640	-		48765289	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	SNP	1.000	C	C	48765289	G	C	48765289	3	2	210	1	0	0	0	0	1	0	0	0	12526	1203	42	4	5576	4	PRKDC	8	48765289	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	40016446	48765289	97598733	34	17237											
INSL4	3641	genome.wustl.edu	37	chr9	5233767	5233767	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgaagggcagccatcaTtgaagaaaataatactttcc	8	8	2	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr9:5233767T>A	ENST00000239316.4	+	2	415	c.310T>A	c.(310-312)Ttg>Atg	p.L104M		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	104					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GCAGCCATCATTGAAGAAAAT	0.398																																																	0								ENSG00000120211						83	77	79					9																	5233767		2203	4300	6503	INSL4	SO:0001583	missense	0			-	HGNC		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.310T>A	9.37:g.5233767T>A	ENSP00000239316:p.Leu104Met	Somatic	0	63	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	34	50.72	A8K678|Q5W127	Missense_Mutation	SNP							superfamily_Insulin-like,prints_Placentin,prints_Relaxin	p.L104M	ENST00000239316.4	37	c.310	CCDS6459.1	9	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972434	0.18736	.	.	ENSG00000120211	ENST00000239316	T	0.30981	1.51	2.03	0.735	0.18300	.	3.212140	0.02905	U	0.135906	T	0.31827	0.0809	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	P	0.55011	0.766	T	0.15838	-1.0423	10	0.66056	D	0.02	.	4.1382	0.10181	0.0:0.1909:0.0:0.8091	.	104	Q14641	INSL4_HUMAN	M	104	ENSP00000239316:L104M	ENSP00000239316:L104M	L	+	1	2	INSL4	5223767	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.456000	0.06754	0.181000	0.19994	0.358000	0.22013	TTG	-	superfamily_Insulin-like		0.398	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL4	protein_coding	OTTHUMT00000051616.2	T	NM_002195	-		5233767	1	no_errors	ENST00000239316	ensembl	human	known	74_37	missense	SNP	0.001	A	A	5233767	T	A	5233767	3	1	210	1	0	0	0	0	1	0	0	0	7770	1490	52	5	316	5	INSL4	9	5233767	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09		5233767	135979664	35	17238											
VCP	7415	genome.wustl.edu	37	chr9	35060455	35060455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagccaggaggtccaTagaacagaactcccttggaa	9	13	0	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr9:35060455T>C	ENST00000358901.6	-	13	2445	c.1550A>G	c.(1549-1551)tAt>tGt	p.Y517C		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	517					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAGGTCCATAGAACAGAAC	0.498																																																	0								ENSG00000165280						102	87	92					9																	35060455		2203	4300	6503	VCP	SO:0001583	missense	0			-	HGNC	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1550A>G	9.37:g.35060455T>C	ENSP00000351777:p.Tyr517Cys	Somatic	0	48	0		0.682009056863981	265	46.91	235	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	45	38.36	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.Y517C	ENST00000358901.6	37	c.1550	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002817	0.74932	.	.	ENSG00000165280	ENST00000358901	D	0.94092	-3.35	5.85	5.85	0.93711	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96930	0.9680	10	0.87932	D	0	-35.6377	16.2303	0.82332	0.0:0.0:0.0:1.0	.	517	P55072	TERA_HUMAN	C	517	ENSP00000351777:Y517C	ENSP00000351777:Y517C	Y	-	2	0	VCP	35050455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.233000	0.73108	0.533000	0.62120	TAT	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48		0.498	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	protein_coding	OTTHUMT00000052290.1	T	NM_007126	-		35060455	-1	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	SNP	1.000	C	C	35060455	T	C	35060455	3	2	210	1	0	0	0	0	1	0	0	0	17147	1406	49	5	890	5	VCP	9	35060455	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09	29826688	35060455	106152976	36	17239											
DAPK1	1612	genome.wustl.edu	37	chr9	90321149	90321149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtccgtggagaccccaCgggcgctgcaccactaccgg	13	16	0	1	rs370890284		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr9:90321149C>T	ENST00000408954.3	+	26	3498	c.3163C>T	c.(3163-3165)Cgg>Tgg	p.R1055W	DAPK1_ENST00000469640.2_Missense_Mutation_p.R1080W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1055W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1055W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R989W	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1055					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGAGACCCCACGGGCGCTGCA	0.632									Chronic Lymphocytic Leukemia, Familial Clustering of				C|||	1	0.000199681	8e-04	0	5008	,	,		16965	0		0	False		,,,				2504	0																0								ENSG00000196730	C	TRP/ARG	1,4111		0,1,2055	31	36	34		3163	3.7	0.9	9		34	0,8402		0,0,4201	no	missense	DAPK1	NM_004938.2	101	0,1,6256	TT,TC,CC		0.0,0.0243,0.0080	possibly-damaging	1055/1431	90321149	1,12513	2056	4201	6257	DAPK1	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	-	HGNC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3163C>T	9.37:g.90321149C>T	ENSP00000386135:p.Arg1055Trp	Somatic	0	61	0		0.682009056863981	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R1080W	ENST00000408954.3	37	c.3238	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663192	0.47572	2.43E-4	0.0	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67698	-0.26;-0.26;-0.28;-0.26;-0.26	5.72	3.68	0.42216	.	0.180292	0.25631	N	0.029343	T	0.62514	0.2434	N	0.22421	0.69	0.31790	N	0.629839	P;D;P	0.59767	0.916;0.986;0.916	B;P;B	0.52343	0.312;0.696;0.19	T	0.70956	-0.4731	10	0.66056	D	0.02	.	13.571	0.61847	0.43:0.57:0.0:0.0	.	989;1055;1055	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	W	1055;1055;1080;1055;989	ENSP00000350785:R1055W;ENSP00000417076:R1055W;ENSP00000418885:R1080W;ENSP00000386135:R1055W;ENSP00000419026:R989W	ENSP00000350785:R1055W	R	+	1	2	DAPK1	89510969	0.997000	0.39634	0.872000	0.34217	0.950000	0.60333	3.537000	0.53590	1.410000	0.46936	0.655000	0.94253	CGG	-	NULL		0.632	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	C	NM_004938	-		90321149	1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	SNP	0.762	T	T	90321149	C	T	90321149	3	4	210	1	0	0	0	0	1	0	0	0	4237	527	19	1	3261	1	DAPK1	9	90321149	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	55260694	90321149	50892282	37	17240											
C9orf139	401563	genome.wustl.edu	37	chr9	139927527	139927527	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctgggatggccctgcgGggtcaccctgagccccagcc	15	16	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr9:139927527G>T	ENST00000314330.2	+	2	1526	c.12G>T	c.(10-12)cgG>cgT	p.R4R	FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	4										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGGCCCTGCGGGGTCACCCTG	0.667																																																	0								ENSG00000180539						109	99	102					9																	139927527		2202	4292	6494	C9orf139	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.12G>T	9.37:g.139927527G>T		Somatic	0	36	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	A2RUA3|B9EGW2|Q5SPY0|Q8N224	Silent	SNP							NULL	p.R4	ENST00000314330.2	37	c.12	CCDS7023.1	9																																																																																			-	NULL		0.667	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	protein_coding	OTTHUMT00000055213.2	G	NM_207511	-		139927527	1	no_errors	ENST00000314330	ensembl	human	known	74_37	silent	SNP	0.006	T	T	139927527	G	T	139927527	2	4	210	1	0	0	0	0	0	0	0	1	2461	1219	43	3		3	C9orf139	9	139927527	Silent	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	49606378	139927527	1285904	38	17241											
LRDD	55367	genome.wustl.edu	37	chr11	803282	803282	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtccagcagattctgagagaGatcgaggcgctgcagggtgg	17	8	1	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr11:803282G>C	ENST00000347755.5	-	3	742	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.L201V	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					TTCTGAGAGAGATCGAGGCGC	0.667																																																	0								ENSG00000177595						50	58	55					11																	803282		2203	4299	6502	PIDD	SO:0001583	missense	0			-	HGNC																												ENST00000347755.5:c.601C>G	11.37:g.803282G>C	ENSP00000337797:p.Leu201Val	Somatic	0	59	0		0.682009056863981	27	3.57	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	30.19		Missense_Mutation	SNP							pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.L201V	ENST00000347755.5	37	c.601	CCDS7716.1	11	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527791	0.44969	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.74421	-0.84;-0.84	4.42	4.42	0.53409	.	0.092812	0.45867	D	0.000332	T	0.73552	0.3601	M	0.62016	1.91	0.42222	D	0.991851	P;P;P	0.44478	0.836;0.803;0.803	B;B;B	0.40982	0.345;0.234;0.234	T	0.80067	-0.1537	10	0.72032	D	0.01	.	17.1972	0.86895	0.0:0.0:1.0:0.0	.	201;55;201	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	V	201	ENSP00000416801:L201V;ENSP00000337797:L201V	ENSP00000337797:L201V	L	-	1	0	PIDD	793282	1.000000	0.71417	0.966000	0.40874	0.686000	0.39977	5.146000	0.64845	2.299000	0.77371	0.455000	0.32223	CTC	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.667	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	protein_coding	OTTHUMT00000257103.1	G		-		803282	-1	no_errors	ENST00000347755	ensembl	human	known	74_37	missense	SNP	1.000	C	C	803282	G	C	803282	3	2	210	1	0	0	0	0	1	0	0	0	8938	942	33	4	2187	4	LRDD	11	803282	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09		803282	134203234	39	17242			3	96		3	3	264	G		1.426405e-07
LRDD	55367	genome.wustl.edu	37	chr11	803302	803302	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatcgaggcgctgcagggtgGatagggcccccagtgctggg	19	10	0	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr11:803302G>T	ENST00000347755.5	-	3	722	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.S194Y	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CTGCAGGGTGGATAGGGCCCC	0.652																																																	0								ENSG00000177595						55	66	62					11																	803302		2203	4299	6502	PIDD	SO:0001583	missense	0			-	HGNC																												ENST00000347755.5:c.581C>A	11.37:g.803302G>T	ENSP00000337797:p.Ser194Tyr	Somatic	0	65	0		0.682009056863981	34	2.86	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	39	33.90		Missense_Mutation	SNP							pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.S194Y	ENST00000347755.5	37	c.581	CCDS7716.1	11	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837588	0.50951	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.19806	2.12;2.12	4.42	1.18	0.20946	.	1.274370	0.05473	N	0.553386	T	0.37517	0.1006	M	0.78049	2.395	0.09310	N	1	P;P;P	0.49696	0.927;0.846;0.911	P;B;P	0.52267	0.694;0.367;0.66	T	0.21042	-1.0257	10	0.72032	D	0.01	.	6.8056	0.23777	0.1624:0.4191:0.4185:0.0	.	194;48;194	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	Y	194	ENSP00000416801:S194Y;ENSP00000337797:S194Y	ENSP00000337797:S194Y	S	-	2	0	PIDD	793302	0.001000	0.12720	0.014000	0.15608	0.928000	0.56348	1.002000	0.29796	0.454000	0.26884	0.455000	0.32223	TCC	-	smart_Leu-rich_rpt_typical-subtyp		0.652	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	protein_coding	OTTHUMT00000257103.1	G		-		803302	-1	no_errors	ENST00000347755	ensembl	human	known	74_37	missense	SNP	0.000	T	T	803302	G	T	803302	3	4	210	1	0	0	0	0	1	0	0	0	8938	1174	41	3	2207	3	LRDD	11	803302	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	20	803302	134203214	40	17243			3	96		3	3	264	G		1.426405e-07
LRDD	55367	genome.wustl.edu	37	chr11	803545	803545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggcaggttggtcaggGcaccccggagacaggcaccc	16	14	1	1	rs138805631		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr11:803545G>T	ENST00000347755.5	-	3	479	c.338C>A	c.(337-339)gCc>gAc	p.A113D	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.A113D	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GTTGGTCAGGGCACCCCGGAG	0.682																																																	0								ENSG00000177595						36	41	40					11																	803545		2203	4297	6500	PIDD	SO:0001583	missense	0			-	HGNC																												ENST00000347755.5:c.338C>A	11.37:g.803545G>T	ENSP00000337797:p.Ala113Asp	Somatic	0	35	0		0.682009056863981	35	10.26	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		Missense_Mutation	SNP							pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.A113D	ENST00000347755.5	37	c.338	CCDS7716.1	11	.	.	.	.	.	.	.	.	.	.	G	4.704	0.130863	0.08981	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.41758	1.08;0.99	4.34	2.43	0.29744	.	0.931884	0.09093	N	0.849673	T	0.15652	0.0377	N	0.08118	0	0.20764	N	0.999859	B;B	0.34015	0.309;0.435	B;B	0.21917	0.016;0.037	T	0.14811	-1.0459	10	0.12430	T	0.62	.	2.2896	0.04135	0.1672:0.1668:0.5116:0.1544	.	113;113	Q9HB75;Q9HB75-2	PIDD_HUMAN;.	D	113	ENSP00000416801:A113D;ENSP00000337797:A113D	ENSP00000337797:A113D	A	-	2	0	PIDD	793545	1.000000	0.71417	0.052000	0.19188	0.560000	0.35617	2.398000	0.44486	0.448000	0.26722	0.462000	0.41574	GCC	-	NULL		0.682	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	protein_coding	OTTHUMT00000257103.1	G		-		803545	-1	no_errors	ENST00000347755	ensembl	human	known	74_37	missense	SNP	0.888	T	T	803545	G	T	803545	3	4	210	1	0	0	0	0	1	0	0	0	8938	1203	42	3	2450	3	LRDD	11	803545	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	243	803545	134202971	41	17244			3	96		3	3	264	G		1.426405e-07
MUC5B	727897	genome.wustl.edu	37	chr11	1263664	1263664	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggtgctgacctgcagcctgGagacggggctgacctgcaag	16	11	0	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr11:1263664G>T	ENST00000529681.1	+	31	5612	c.5554G>T	c.(5554-5556)Gag>Tag	p.E1852*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.E1855*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1852	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)		CTGCAGCCTGGAGACGGGGCT	0.587																																																	0								ENSG00000117983						55	71	65					11																	1263664		2175	4267	6442	MUC5B	SO:0001587	stop_gained	0			-	HGNC	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.5554G>T	11.37:g.1263664G>T	ENSP00000436812:p.Glu1852*	Somatic	0	47	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.E1855*	ENST00000529681.1	37	c.5563	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	42	9.584036	0.99211	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.64	-9.29	0.00653	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.4634	0.38798	0.2075:0.6086:0.111:0.0729	.	.	.	.	X	1852;1855;1853;1922	.	ENSP00000343037:E1853X	E	+	1	0	MUC5B	1220240	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-3.861000	0.00348	-2.071000	0.00880	0.306000	0.20318	GAG	-	NULL		0.587	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	-		1263664	1	no_errors	ENST00000447027	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	1263664	G	T	1263664	4	4	210	1	0	0	0	0	0	1	0	0	9981	1175	41	3	5685	3	MUC5B	11	1263664	Nonsense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	460119	1263664	133742852	42	17245											
CTR9	9646	genome.wustl.edu	37	chr11	10772978	10772978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcatgtcgcggggctccatcGagattcccctccgggacact	11	15	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr11:10772978G>C	ENST00000361367.2	+	1	445	c.19G>C	c.(19-21)Gag>Cag	p.E7Q		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	7					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|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)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGGCTCCATCGAGATTCCCCT	0.627																																																	0								ENSG00000198730						45	45	45					11																	10772978		2201	4294	6495	CTR9	SO:0001583	missense	0			-	HGNC	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.19G>C	11.37:g.10772978G>C	ENSP00000355013:p.Glu7Gln	Somatic	0	45	0		0.682009056863981	36	14.29	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	38	17.39	D3DQV8|Q15015	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E7Q	ENST00000361367.2	37	c.19	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.819469	0.96982	.	.	ENSG00000198730	ENST00000361367	T	0.50548	0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.84219	2.685	0.80722	D	1	D	0.63880	0.993	P	0.51550	0.673	T	0.67313	-0.5702	10	0.48119	T	0.1	-27.3762	18.1653	0.89723	0.0:0.0:1.0:0.0	.	7	Q6PD62	CTR9_HUMAN	Q	7	ENSP00000355013:E7Q	ENSP00000355013:E7Q	E	+	1	0	CTR9	10729554	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.006000	0.93592	2.805000	0.96524	0.650000	0.86243	GAG	-	NULL		0.627	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	protein_coding	OTTHUMT00000386215.1	G	NM_014633	-		10772978	1	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10772978	G	C	10772978	3	2	210	1	0	0	0	0	1	0	0	0	4026	1059	37	4	21	4	CTR9	11	10772978	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	9509314	10772978	124233538	43	17246											
CALCB	797	genome.wustl.edu	37	chr11	15098923	15098923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagggggcatggtgaagAgcaacttcgtgcccaccaat	13	10	1	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr11:15098923A>T	ENST00000533448.1	+	4	427	c.316A>T	c.(316-318)Agc>Tgc	p.S106C	CALCB_ENST00000523376.1_Missense_Mutation_p.S117C|CALCB_ENST00000324229.6_Missense_Mutation_p.S106C			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	106					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CATGGTGAAGAGCAACTTCGT	0.572																																																	0								ENSG00000175868						62	58	59					11																	15098923		2200	4294	6494	CALCB	SO:0001583	missense	0			-	HGNC		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.316A>T	11.37:g.15098923A>T	ENSP00000433490:p.Ser106Cys	Somatic	0	27	0		0.682009056863981	3	72.73	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	7	82.50	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP							pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.S106C	ENST00000533448.1	37	c.316	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518912	0.64634	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.24350	1.86;1.86;1.86	4.87	2.56	0.30785	Calcitonin peptide-like (1);	0.905584	0.09411	N	0.805874	T	0.41604	0.1166	M	0.65975	2.015	0.27334	N	0.956703	D	0.61697	0.99	P	0.57371	0.819	T	0.19353	-1.0308	10	0.59425	D	0.04	-0.0815	7.9838	0.30198	0.8442:0.0:0.1558:0.0	.	106	P10092	CALCB_HUMAN	C	117;106;106	ENSP00000428882:S117C;ENSP00000346017:S106C;ENSP00000433490:S106C	ENSP00000346017:S106C	S	+	1	0	CALCB	15055499	1.000000	0.71417	0.995000	0.50966	0.756000	0.42949	3.463000	0.53050	0.315000	0.23110	0.379000	0.24179	AGC	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep		0.572	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	protein_coding	OTTHUMT00000387433.1	A	NM_000728	-		15098923	1	no_errors	ENST00000324229	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15098923	A	T	15098923	3	4	210	1	0	0	0	0	1	0	0	0	2578	304	11	5	326	5	CALCB	11	15098923	Missense_Mutation	SNP	A	TCGA-SG-A6Z7-01A-12D-A32I-09	4325945	15098923	119907593	44	17247											
LRRK2	120892	genome.wustl.edu	37	chr12	40688653	40688653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattttttaataggggcccAtttttgatcatgaagattta	7	4	1	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr12:40688653A>G	ENST00000298910.7	+	22	2873	c.2815A>G	c.(2815-2817)Att>Gtt	p.I939V	LRRK2_ENST00000343742.2_Missense_Mutation_p.I939V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	939					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ataGGGGCCCATTTTTGATCA	0.264																																																	0								ENSG00000188906						26	29	28					12																	40688653		2200	4282	6482	LRRK2	SO:0001583	missense	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2815A>G	12.37:g.40688653A>G	ENSP00000298910:p.Ile939Val	Somatic	0	118	0		0.682009056863981	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	40	54.55	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.I939V	ENST00000298910.7	37	c.2815	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.450939	0.01080	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.70399	2.36;-0.48	5.52	-4.96	0.03038	.	0.909994	0.09601	N	0.780129	T	0.38957	0.1060	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	0.30621	-0.9972	10	0.12766	T	0.61	.	7.1657	0.25689	0.2514:0.0:0.5124:0.2362	.	939;939	E9PC85;Q5S007	.;LRRK2_HUMAN	V	939	ENSP00000341930:I939V;ENSP00000298910:I939V	ENSP00000298910:I939V	I	+	1	0	LRRK2	38974920	0.304000	0.24472	0.701000	0.30321	0.501000	0.33797	0.298000	0.19120	-1.208000	0.02634	-0.326000	0.08463	ATT	-	NULL		0.264	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	A	XM_058513	-		40688653	1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	SNP	0.303	G	G	40688653	A	G	40688653	3	3	210	1	0	0	0	0	1	0	0	0	9035	217	8	5	2901	5	LRRK2	12	40688653	Missense_Mutation	SNP	A	TCGA-SG-A6Z7-01A-12D-A32I-09		40688653	93163242	45	17248											
HOXC8	3224	genome.wustl.edu	37	chr12	54403298	54403298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctaccagcagaacccgtGctcgcttagctgccacggag	12	14	0	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr12:54403298G>T	ENST00000040584.4	+	1	467	c.230G>T	c.(229-231)tGc>tTc	p.C77F	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	77					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CAGAACCCGTGCTCGCTTAGC	0.622																																					GBM(197;701 2226 7002 18822 41696)												0								ENSG00000037965						124	134	131					12																	54403298		2203	4300	6503	HOXC8	SO:0001583	missense	0			-	HGNC	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.230G>T	12.37:g.54403298G>T	ENSP00000040584:p.Cys77Phe	Somatic	0	67	0		0.682009056863981	14	17.65	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	50	32.00	A8K4J4|O15221|O15362	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.C77F	ENST00000040584.4	37	c.230	CCDS8870.1	12	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748832	0.69533	.	.	ENSG00000037965	ENST00000040584	T	0.47869	0.83	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	M	0.87180	2.865	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.75479	-0.3303	10	0.41790	T	0.15	.	15.1195	0.72432	0.0:0.0:1.0:0.0	.	77	P31273	HXC8_HUMAN	F	77	ENSP00000040584:C77F	ENSP00000040584:C77F	C	+	2	0	HOXC8	52689565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.728000	0.98792	1.904000	0.55121	0.462000	0.41574	TGC	-	NULL		0.622	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	protein_coding	OTTHUMT00000358957.2	G		-		54403298	1	no_errors	ENST00000040584	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54403298	G	T	54403298	3	4	210	1	0	0	0	0	1	0	0	0	7318	1319	46	3	232	3	HOXC8	12	54403298	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	13714645	54403298	79448597	46	17249											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72038834	72038834	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aagctgtaattcagatagttCctcttcatcttcaccaagtt	5	10	5	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr12:72038834C>G	ENST00000378743.3	-	4	1460	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	368					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						TCAGATAGTTCCTCTTCATCT	0.323																																																	0								ENSG00000133858						73	62	65					12																	72038834		1807	4072	5879	ZFC3H1	SO:0001583	missense	0			-	HGNC	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.1102G>C	12.37:g.72038834C>G	ENSP00000368017:p.Glu368Gln	Somatic	0	64	0		0.682009056863981	23	30.3	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	73	21.51	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP							pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.E368Q	ENST00000378743.3	37	c.1102	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866294	0.91511	.	.	ENSG00000133858	ENST00000378743	T	0.40225	1.04	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.55065	0.1897	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.55477	-0.8135	10	0.51188	T	0.08	.	19.2963	0.94124	0.0:1.0:0.0:0.0	.	368	O60293	ZC3H1_HUMAN	Q	368	ENSP00000368017:E368Q	ENSP00000368017:E368Q	E	-	1	0	ZFC3H1	70325101	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	6.742000	0.74843	2.560000	0.86352	0.557000	0.71058	GAA	-	NULL		0.323	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	C	NM_144982	-		72038834	-1	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72038834	C	G	72038834	3	3	210	1	0	0	0	0	1	0	0	0	17640	864	30	4	4995	4	ZFC3H1	12	72038834	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	17635536	72038834	61813061	47	17250											
RNF219	79596	genome.wustl.edu	37	chr13	79190272	79190272	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgactctgacatcattgaatCcaactcagagattttgtcaa	6	9	4	4			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr13:79190272C>G	ENST00000282003.6	-	6	1682	c.1624G>C	c.(1624-1626)Gat>Cat	p.D542H	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	542	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ATCATTGAATCCAACTCAGAG	0.413																																																	0								ENSG00000152193						141	142	142					13																	79190272		2203	4300	6503	RNF219	SO:0001583	missense	0			-	HGNC	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1624G>C	13.37:g.79190272C>G	ENSP00000282003:p.Asp542His	Somatic	0	39	0		0.682009056863981	9	18.18	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP							pfscan_Znf_RING	p.D542H	ENST00000282003.6	37	c.1624	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745050	0.69418	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.38878	0.1057	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.03524	-1.1028	10	0.87932	D	0	-11.0944	20.2019	0.98263	0.0:1.0:0.0:0.0	.	542	Q5W0B1	RN219_HUMAN	H	542	ENSP00000282003:D542H	ENSP00000282003:D542H	D	-	1	0	RNF219	78088273	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.152000	0.77419	2.776000	0.95493	0.655000	0.94253	GAT	-	NULL		0.413	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	protein_coding	OTTHUMT00000045363.1	C	NM_024546	-		79190272	-1	no_errors	ENST00000282003	ensembl	human	known	74_37	missense	SNP	1.000	G	G	79190272	C	G	79190272	3	3	210	1	0	0	0	0	1	0	0	0	13490	855	30	4	560	4	RNF219	13	79190272	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		79190272	35979606	48	17251											
SYNE2	23224	genome.wustl.edu	37	chr14	64465047	64465047	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaatagtttactagagagGtaaactctttttaaaaacaa	5	4	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr14:64465047G>A	ENST00000344113.4	+	26	3565		c.e26+1		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.?(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TACTAGAGAGGTAAACTCTTT	0.338																																																	1	Unknown(1)	skin(1)						ENSG00000054654						62	56	57					14																	64465047		1805	4076	5881	SYNE2	SO:0001630	splice_region_variant	0			-	HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3353+1G>A	14.37:g.64465047G>A		Somatic	0	79	0		0.682009056863981	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	92	8.00	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP							-	e25+1	ENST00000344113.4	37	c.3353+1	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552885	0.65425	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1134	0.72380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63534800	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.808000	0.62583	2.708000	0.92522	0.650000	0.86243	.	-	-		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914	-	Intron	64465047	1	no_errors	ENST00000358025	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	64465047	G	A	64465047	5	1	210	1	0	0	0	0	0	0	1	0	15453	1275	44	2	3452	2	SYNE2	14	64465047	Splice_Site	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09		64465047	42884493	49	17252											
GPHN	10243	genome.wustl.edu	37	chr14	67647600	67647600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaaagacagaacagtaCgtggagctccacaaaggcga	10	12	0	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr14:67647600C>T	ENST00000315266.5	+	22	3278	c.2157C>T	c.(2155-2157)taC>taT	p.Y719Y	GPHN_ENST00000305960.9_Silent_p.Y688Y|GPHN_ENST00000543237.1_Silent_p.Y765Y|GPHN_ENST00000478722.1_Silent_p.Y752Y|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	719	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CAGAACAGTACGTGGAGCTCC	0.468			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0								ENSG00000171723						179	137	151					14																	67647600		2203	4300	6503	GPHN	SO:0001819	synonymous_variant	0			-	HGNC	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.2157C>T	14.37:g.67647600C>T		Somatic	0	50	0		0.682009056863981	58	14.49	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	65	13.33	Q9H4E9|Q9P2G2	Silent	SNP							pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	p.Y752	ENST00000315266.5	37	c.2256	CCDS32103.1	14																																																																																			-	pfam_MoeA_C_domain_IV,superfamily_MoeA_C_domain_IV		0.468	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	protein_coding	OTTHUMT00000074299.2	C	NM_020806	-		67647600	1	no_errors	ENST00000478722	ensembl	human	known	74_37	silent	SNP	0.174	T	T	67647600	C	T	67647600	2	4	210	1	0	0	0	0	0	0	0	1	6612	547	19	1		1	GPHN	14	67647600	Silent	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	3182553	67647600	39701940	50	17253											
MTHFS	10588	genome.wustl.edu	37	chr15	80181626	80181626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgatctcttctgtcTcaatttcatcttgcatgctc	5	12	5	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr15:80181626T>C	ENST00000258874.3	-	2	248	c.188A>G	c.(187-189)gAg>gGg	p.E63G	MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.E39G|ST20-MTHFS_ENST00000494999.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	63					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		CTCTTCTGTCTCAATTTCATC	0.393																																																	0								ENSG00000136371						171	149	156					15																	80181626		2203	4300	6503	MTHFS	SO:0001583	missense	0			-	HGNC	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.188A>G	15.37:g.80181626T>C	ENSP00000258874:p.Glu63Gly	Somatic	0	89	0		0.682009056863981	16	44.83	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	45	47.67	H3BQ75	Missense_Mutation	SNP							pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase	p.E63G	ENST00000258874.3	37	c.188	CCDS10311.1	15	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544089	0.45280	.	.	ENSG00000136371	ENST00000258874	T	0.41400	1.0	5.32	5.32	0.75619	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.672064	0.15434	N	0.262566	T	0.32793	0.0841	L	0.33485	1.01	0.34670	D	0.723626	P	0.39601	0.68	B	0.32583	0.148	T	0.50432	-0.8829	10	0.51188	T	0.08	-28.1776	15.2906	0.73862	0.0:0.0:0.0:1.0	.	63	P49914	MTHFS_HUMAN	G	63	ENSP00000258874:E63G	ENSP00000258874:E63G	E	-	2	0	MTHFS	77968681	1.000000	0.71417	0.860000	0.33809	0.795000	0.44927	3.215000	0.51169	2.023000	0.59567	0.528000	0.53228	GAG	-	pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase		0.393	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFS	protein_coding	OTTHUMT00000291374.2	T	NM_006441	-		80181626	-1	no_errors	ENST00000258874	ensembl	human	known	74_37	missense	SNP	0.994	C	C	80181626	T	C	80181626	3	2	210	1	0	0	0	0	1	0	0	0	9934	1551	54	5	431	5	MTHFS	15	80181626	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09		80181626	22349766	51	17254											
MKL2	57496	genome.wustl.edu	37	chr16	14340547	14340547	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acacaacactgtgactagctCagtctctactctcaaggcag	7	13	3	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr16:14340547C>T	ENST00000341243.5	+	10	1397	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	MKL2_ENST00000574045.1_Missense_Mutation_p.S477L|MKL2_ENST00000318282.5_Missense_Mutation_p.S477L|MKL2_ENST00000571589.1_Missense_Mutation_p.S477L			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	466					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGACTAGCTCAGTCTCTACT	0.527																																																	0								ENSG00000186260						205	180	189					16																	14340547		2197	4300	6497	MKL2	SO:0001583	missense	0			-	HGNC	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1397C>T	16.37:g.14340547C>T	ENSP00000345841:p.Ser466Leu	Somatic	0	58	0		0.682009056863981	8	50	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	35	51.39	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.S466L	ENST00000341243.5	37	c.1397		16	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751548	0.31046	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.75	5.75	0.90469	.	0.678240	0.14953	N	0.288814	T	0.54759	0.1878	M	0.66939	2.045	0.09310	N	1	B;B	0.18741	0.03;0.01	B;B	0.21151	0.014;0.033	T	0.44982	-0.9292	9	0.19590	T	0.45	-4.7302	18.9126	0.92491	0.0:1.0:0.0:0.0	.	477;477	B4DGT8;Q9ULH7-4	.;.	L	477;466	.	ENSP00000339086:S477L	S	+	2	0	MKL2	14248048	0.113000	0.22115	0.006000	0.13384	0.096000	0.18686	3.120000	0.50430	2.712000	0.92718	0.655000	0.94253	TCA	-	NULL		0.527	MKL2-202	KNOWN	basic	protein_coding	MKL2	protein_coding		C	NM_014048	-		14340547	1	no_errors	ENST00000341243	ensembl	human	known	74_37	missense	SNP	0.090	T	T	14340547	C	T	14340547	3	4	210	1	0	0	0	0	1	0	0	0	9604	838	29	2	1468	2	MKL2	16	14340547	Missense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		14340547	76014206	52	17255											
CNGB1	1258	genome.wustl.edu	37	chr16	57954314	57954314	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttggggctctcctcatcaGaggtgacgtcagggtcaatg	14	10	5	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr16:57954314G>T	ENST00000251102.8	-	19	1838	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y	CNGB1_ENST00000564448.1_Missense_Mutation_p.S587Y	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	593					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|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(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTCCTCATCAGAGGTGACGTC	0.572																																					Colon(156;1293 1853 16336 28962 38659)												0								ENSG00000070729						80	83	82					16																	57954314		1945	4137	6082	CNGB1	SO:0001583	missense	0			-	HGNC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1778C>A	16.37:g.57954314G>T	ENSP00000251102:p.Ser593Tyr	Somatic	0	57	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	40	42.03	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S593Y	ENST00000251102.8	37	c.1778	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643316	0.87859	.	.	ENSG00000070729	ENST00000251102	D	0.98280	-4.84	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000008	D	0.98874	0.9619	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99873	1.1100	10	0.87932	D	0	.	18.2255	0.89916	0.0:0.0:1.0:0.0	.	593	Q14028	CNGB1_HUMAN	Y	593	ENSP00000251102:S593Y	ENSP00000251102:S593Y	S	-	2	0	CNGB1	56511815	1.000000	0.71417	0.952000	0.39060	0.914000	0.54420	7.647000	0.83462	2.557000	0.86248	0.555000	0.69702	TCT	-	NULL		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	protein_coding	OTTHUMT00000337167.2	G	NM_001297	-		57954314	-1	no_errors	ENST00000251102	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57954314	G	T	57954314	3	4	210	1	0	0	0	0	1	0	0	0	3602	942	33	3	2037	3	CNGB1	16	57954314	Missense_Mutation	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	43613767	57954314	32400439	53	17256											
CKLF	51192	genome.wustl.edu	37	chr16	66597032	66597032	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtttttaggatattaTcaactcactggtaacaacag	8	6	2	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr16:66597032T>A	ENST00000264001.4	+	3	394	c.245T>A	c.(244-246)aTc>aAc	p.I82N	CKLF_ENST00000351137.4_Missense_Mutation_p.I29N|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.I82N|CKLF-CMTM1_ENST00000532838.1_Missense_Mutation_p.I29N	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	82	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TAGGATATTATCAACTCACTG	0.368																																																	0								ENSG00000217555						184	160	168					16																	66597032		2201	4300	6501	CKLF	SO:0001583	missense	0			-	HGNC	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"chemokine-like factor 1"	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.245T>A	16.37:g.66597032T>A	ENSP00000264001:p.Ile82Asn	Somatic	0	71	0		0.682009056863981	118	41.58	84	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	46	41.77	C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP							NULL	p.I82N	ENST00000264001.4	37	c.245	CCDS10807.1	16	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286687	0.59867	.	.	ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000217555;ENSG00000254788	ENST00000264001;ENST00000351137;ENST00000361141;ENST00000417030;ENST00000532838;ENST00000529718	T;T	0.51817	0.69;0.71	4.9	3.81	0.43845	Marvel (1);	.	.	.	.	T	0.58032	0.2094	L	0.59436	1.845	0.80722	D	1	P;D;P	0.69078	0.815;0.997;0.904	P;D;P	0.65010	0.592;0.931;0.667	T	0.58747	-0.7582	9	0.87932	D	0	-11.5711	7.0049	0.24830	0.0:0.1016:0.0:0.8984	.	82;82;29	Q9UBR5-5;Q9UBR5;Q5BJH6	.;CKLF_HUMAN;.	N	82;29;82;82;29;1	ENSP00000264001:I82N;ENSP00000416678:I82N	ENSP00000433503:I1N	I	+	2	0	CKLF;CKLF-CMTM1	65154533	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.612000	0.54142	0.905000	0.36596	0.528000	0.53228	ATC	-	NULL		0.368	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKLF	protein_coding	OTTHUMT00000268816.2	T	NM_016326	-		66597032	1	no_errors	ENST00000264001	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66597032	T	A	66597032	3	1	210	1	0	0	0	0	1	0	0	0	3449	1435	50	5	255	5	CKLF	16	66597032	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09	8642718	66597032	23757721	54	17257											
MYH3	4621	genome.wustl.edu	37	chr17	10533415	10533415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgttccacttacctggtaCgtcagctccttgaccctccg	8	16	1	1			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr17:10533415C>T	ENST00000583535.1	-	38	5643	c.5556G>A	c.(5554-5556)acG>acA	p.T1852T	MYH3_ENST00000226209.7_Silent_p.T1852T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1852					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTACCTGGTACGTCAGCTCCT	0.517																																																	0								ENSG00000109063						274	262	266					17																	10533415		2203	4300	6503	MYH3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5556G>A	17.37:g.10533415C>T		Somatic	0	63	0		0.682009056863981	1	90	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	1	97.62	Q15492	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1852	ENST00000583535.1	37	c.5556	CCDS11157.1	17																																																																																			-	pfam_Myosin_tail		0.517	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	protein_coding	OTTHUMT00000252734.2	C	NM_002470	-		10533415	-1	no_errors	ENST00000226209	ensembl	human	known	74_37	silent	SNP	0.172	T	T	10533415	C	T	10533415	2	4	210	1	0	0	0	0	0	0	0	1	10038	523	19	1		1	MYH3	17	10533415	Silent	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		10533415	70661795	55	17258											
BLMH	642	genome.wustl.edu	37	chr17	28616399	28616399	+	Frame_Shift_Del	DEL	A	A	-													tctgtcccataccttgtcccAaaaaaacaggtaagattggc							TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr17:28616399delA	ENST00000261714.6	-	3	487	c.313delT	c.(313-315)tggfs	p.W105fs	BLMH_ENST00000394819.3_Intron|RNU6-1267P_ENST00000410747.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	105					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	ACCTTGTCCCAAAAAAACAGG	0.383																																					Pancreas(127;628 1772 12912 33293 36203)												0								ENSG00000108578						83	81	82					17																	28616399		2203	4300	6503	BLMH	SO:0001589	frameshift_variant	0				HGNC	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.313delT	17.37:g.28616399delA	ENSP00000261714:p.Trp105fs	Somatic	0	41	0		0.682009056863981	29	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B2R796|Q53F86|Q9UER9	Frame_Shift_Del	DEL							pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.W105fs	ENST00000261714.6	37	c.313	CCDS32604.1	17																																																																																			-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B		0.383	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	protein_coding	OTTHUMT00000447940.1	A	NM_000386			28616399	-1	no_errors	ENST00000261714	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	28616399	A	-	28616399	7	5	210	1	0	1	0	1	0	0	0	0	1446	130	5	0	1094	0	BLMH	17	28616399	Frame_Shift_Del	DEL	A	TCGA-SG-A6Z7-01A-12D-A32I-09	18082984	28616399	52578811	56	17259											
SLFN5	162394	genome.wustl.edu	37	chr17	33585788	33585788	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacccttgggactcagCagaggcaggagatggaccct	13	11	2	2			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr17:33585788C>T	ENST00000299977.4	+	2	227	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	SLFN5_ENST00000542451.1_Nonsense_Mutation_p.Q27*|SLFN5_ENST00000592325.1_Nonsense_Mutation_p.Q27*	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	27					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGGGACTCAGCAGAGGCAGGA	0.498																																																	0								ENSG00000166750						77	74	75					17																	33585788		2203	4300	6503	SLFN5	SO:0001587	stop_gained	0			-	HGNC	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.79C>T	17.37:g.33585788C>T	ENSP00000299977:p.Gln27*	Somatic	0	77	0		0.682009056863981	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q08AF2|Q8WU54|Q96A82	Nonsense_Mutation	SNP							pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.Q27*	ENST00000299977.4	37	c.79	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582888	0.46006	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	.	.	.	3.7	-0.953	0.10362	.	0.258391	0.20622	N	0.088771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.8704	0.41170	0.6913:0.3087:0.0:0.0	.	.	.	.	X	27	.	ENSP00000299977:Q27X	Q	+	1	0	SLFN5	30609901	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.295000	0.02764	-0.003000	0.14444	0.655000	0.94253	CAG	-	NULL		0.498	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	protein_coding	OTTHUMT00000448649.2	C	NM_144975	-		33585788	1	no_errors	ENST00000299977	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	33585788	C	T	33585788	4	4	210	1	0	0	0	0	0	1	0	0	14745	711	25	2	81	2	SLFN5	17	33585788	Nonsense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	4969389	33585788	47609422	57	17260											
SLC4A1	6521	genome.wustl.edu	37	chr17	42327873	42327873	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcccgaccttcctcctCatcaaaggttgccttggcat	6	15	3	0			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr17:42327873C>A	ENST00000262418.6	-	20	2844	c.2689G>T	c.(2689-2691)Gag>Tag	p.E897*	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	897	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTCCTCCTCATCAAAGGTT	0.632																																																	0								ENSG00000004939						115	77	90					17																	42327873		2203	4300	6503	SLC4A1	SO:0001587	stop_gained	0			-	HGNC		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2689G>T	17.37:g.42327873C>A	ENSP00000262418:p.Glu897*	Somatic	0	53	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Nonsense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.E897*	ENST00000262418.6	37	c.2689	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.517791	0.98332	.	.	ENSG00000004939	ENST00000262418	.	.	.	4.66	3.68	0.42216	.	0.271361	0.35096	N	0.003454	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9836	0.64319	0.0:0.8466:0.1534:0.0	.	.	.	.	X	897	.	ENSP00000262418:E897X	E	-	1	0	SLC4A1	39683399	1.000000	0.71417	0.265000	0.24526	0.394000	0.30568	4.695000	0.61767	1.312000	0.45043	0.561000	0.74099	GAG	-	tigrfam_HCO3_transpt_euk		0.632	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	protein_coding	OTTHUMT00000346194.1	C	NM_000342	-		42327873	-1	no_errors	ENST00000262418	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	42327873	C	A	42327873	4	1	210	1	0	0	0	0	0	1	0	0	14658	835	29	3	50	3	SLC4A1	17	42327873	Nonsense_Mutation	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09	8742085	42327873	38867337	58	17261											
AQP4	361	genome.wustl.edu	37	chr18	24442473	24442473	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataagcatggccagaaattcCgctgtgactgctttccagaa	9	10	0	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr18:24442473C>A	ENST00000383168.4	-	2	248	c.120G>T	c.(118-120)gcG>gcT	p.A40A	AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000581374.1_Silent_p.A18A|AQP4-AS1_ENST00000568797.1_RNA|AQP4_ENST00000440832.3_Silent_p.A18A|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	40					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCAGAAATTCCGCTGTGACTG	0.473																																																	0								ENSG00000171885						142	145	144					18																	24442473		2203	4300	6503	AQP4	SO:0001819	synonymous_variant	0			-	HGNC	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.120G>T	18.37:g.24442473C>A		Somatic	0	35	0		0.682009056863981	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	P78564	Missense_Mutation	SNP							NULL	p.R39L	ENST00000383168.4	37	c.116	CCDS11889.1	18																																																																																			-	NULL		0.473	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4	protein_coding	OTTHUMT00000254914.2	C	NM_001650, NM_004028	-		24442473	-1	no_errors	ENST00000383170	ensembl	human	known	74_37	missense	SNP	0.855	A	A	24442473	C	A	24442473	2	1	210	1	0	0	0	0	0	0	0	1	828	639	23	3		3	AQP4	18	24442473	Silent	SNP	C	TCGA-SG-A6Z7-01A-12D-A32I-09		24442473	53634775	59	17262											
ZSWIM4	65249	genome.wustl.edu	37	chr19	13915823	13915823	+	Frame_Shift_Del	DEL	G	G	-													cggctgcccatctccgagacGctctcccagatgaaccggga							TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr19:13915823delG	ENST00000254323.2	+	3	762	c.573delG	c.(571-573)acgfs	p.T191fs	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	191							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCTCCGAGACGCTCTCCCAGA	0.632											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132003						55	49	51					19																	13915823		2203	4300	6503	ZSWIM4	SO:0001589	frameshift_variant	0				HGNC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.573delG	19.37:g.13915823delG	ENSP00000254323:p.Thr191fs	Somatic	0	26	0	691	0.682009056863981	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53		Frame_Shift_Del	DEL							pfscan_Znf_SWIM	p.L192fs	ENST00000254323.2	37	c.573	CCDS32924.1	19																																																																																			-	NULL		0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	protein_coding	OTTHUMT00000457457.1	G	XM_031342			13915823	1	no_errors	ENST00000254323	ensembl	human	known	74_37	frame_shift_del	DEL	0.091	-	-	13915823	G	-	13915823	7	5	210	1	0	1	0	1	0	0	0	0	18250	1074	38	0	583	0	ZSWIM4	19	13915823	Frame_Shift_Del	DEL	G	TCGA-SG-A6Z7-01A-12D-A32I-09		13915823	45213160	60	17263											
SLC1A6	6511	genome.wustl.edu	37	chr19	15072975	15072975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattggcggagccaggcacGggtacagtctcctcaaagct	12	13	2	0	rs148368814		TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chr19:15072975G>T	ENST00000221742.3	-	5	781	c.774C>A	c.(772-774)ccC>ccA	p.P258P	SLC1A6_ENST00000544886.2_Silent_p.P258P|SLC1A6_ENST00000430939.2_Silent_p.P194P|SLC1A6_ENST00000598504.1_Silent_p.P258P|SLC1A6_ENST00000600144.1_Silent_p.P258P	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	258					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AGCCAGGCACGGGTACAGTCT	0.582																																																	0								ENSG00000105143						94	87	90					19																	15072975		2203	4300	6503	SLC1A6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.774C>A	19.37:g.15072975G>T		Somatic	0	55	0		0.682009056863981	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q8N753	Silent	SNP							pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.P258	ENST00000221742.3	37	c.774	CCDS12321.1	19																																																																																			-	pfam_Na-dicarboxylate_symporter		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	protein_coding	OTTHUMT00000466283.1	G	NM_005071	-		15072975	-1	no_errors	ENST00000221742	ensembl	human	known	74_37	silent	SNP	0.049	T	T	15072975	G	T	15072975	2	4	210	1	0	0	0	0	0	0	0	1	14444	1103	39	3		3	SLC1A6	19	15072975	Silent	SNP	G	TCGA-SG-A6Z7-01A-12D-A32I-09	1157152	15072975	44056008	61	17264											
ZXDA	7789	genome.wustl.edu	37	chrX	57936796	57936798	+	In_Frame_Del	DEL	CCG	CCG	-													ggccgccacccgcggggataCcgccgccgccgccgccctgt							TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	CCG	CCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chrX:57936796_57936798delCCG	ENST00000358697.4	-	1	269_271	c.57_59delCGG	c.(55-60)ggcggt>ggt	p.19_20GG>G		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	19	Poly-Gly.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CGCGGGGATACCGCCGCCGCCGC	0.744																																																	0								ENSG00000198205																																			ZXDA	SO:0001651	inframe_deletion	0				HGNC	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.57_59delCGG	X.37:g.57936805_57936807delCCG	ENSP00000351530:p.Gly20del	Somatic	0	16	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q9UJP7	In_Frame_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G20in_frame_del	ENST00000358697.4	37	c.59_57	CCDS14376.1	X																																																																																			-	NULL		0.744	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	protein_coding	OTTHUMT00000056925.1	CCG	NM_007156			57936798	-1	no_errors	ENST00000358697	ensembl	human	known	74_37	in_frame_del	DEL	0.010:0.009:0.008	-	-	57936798	CCG	-	57936796	7	5	210	1	0	1	0	1	0	0	0	0	18257	507	18	0	2344	0	ZXDA	23	57936796	In_Frame_Del	DEL	CCG	TCGA-SG-A6Z7-01A-12D-A32I-09		57936796	97333764	62	17265											
F8	2157	genome.wustl.edu	37	chrX	154159234	154159234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagtaaggggagatgacTttttgccaaatagagtggta	12	5	1	3			TCGA-SG-A6Z7-01A-12D-A32I-09	TCGA-SG-A6Z7-11A-21D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a9b5304-f9e7-4b7f-9c10-bb5e0b659ce7	150e85f0-08f1-445f-86af-41a5bb0f3590	g.chrX:154159234T>G	ENST00000360256.4	-	14	3031	c.2831A>C	c.(2830-2832)aAg>aCg	p.K944T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	944	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGAGATGACTTTTTGCCAAA	0.388																																																	0			GRCh37	CD083298	F8	D		ENSG00000185010						76	75	76					X																	154159234		2202	4298	6500	F8	SO:0001583	missense	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2831A>C	X.37:g.154159234T>G	ENSP00000353393:p.Lys944Thr	Somatic	0	28	0		0.682009056863981	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q14286|Q5HY69	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.K944T	ENST00000360256.4	37	c.2831	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011027	0.07912	.	.	ENSG00000185010	ENST00000360256	D	0.99264	-5.65	5.19	1.06	0.20224	.	0.357105	0.28784	N	0.014153	D	0.96510	0.8861	L	0.50333	1.59	0.09310	N	1	P	0.39665	0.682	B	0.32864	0.154	D	0.93167	0.6563	10	0.44086	T	0.13	-2.2376	3.3649	0.07199	0.36:0.1013:0.0:0.5387	.	944	P00451	FA8_HUMAN	T	944	ENSP00000353393:K944T	ENSP00000353393:K944T	K	-	2	0	F8	153812428	0.121000	0.22262	0.013000	0.15412	0.020000	0.10135	0.904000	0.28491	0.230000	0.21059	-0.544000	0.04233	AAG	-	NULL		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	T		-		154159234	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	SNP	0.028	G	G	154159234	T	G	154159234	3	3	210	1	0	0	0	0	1	0	0	0	5352	1609	56	5	4304	5	F8	23	154159234	Missense_Mutation	SNP	T	TCGA-SG-A6Z7-01A-12D-A32I-09	96222438	154159234	1111326	63	17266											
ACTL8	81569	genome.wustl.edu	37	chr1	18152586	18152586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggaggccctggactttCgtgagaggcagcagagtgcc	18	9	0	2	rs267598220		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:18152586C>T	ENST00000375406.1	+	3	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	225					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|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;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000117148						48	52	50					1																	18152586		2203	4300	6503	ACTL8	SO:0001583	missense	0			-	HGNC	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.673C>T	1.37:g.18152586C>T	ENSP00000364555:p.Arg225Cys	Somatic	0	77	0	723	0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	Q13104|Q96M75	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R225C	ENST00000375406.1	37	c.673	CCDS183.1	1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665005	0.29604	.	.	ENSG00000117148	ENST00000375406	T	0.08008	3.14	4.07	-4.68	0.03309	.	2.015510	0.02199	N	0.062080	T	0.05456	0.0144	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.36817	-0.9732	10	0.87932	D	0	0.0	2.1038	0.03686	0.1422:0.2066:0.1406:0.5106	.	225	Q9H568	ACTL8_HUMAN	C	225	ENSP00000364555:R225C	ENSP00000364555:R225C	R	+	1	0	ACTL8	18025173	0.096000	0.21769	0.000000	0.03702	0.076000	0.17211	0.882000	0.28186	-1.024000	0.03338	0.591000	0.81541	CGT	-	pfam_Actin-related,smart_Actin-related		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	protein_coding	OTTHUMT00000007143.1	C	NM_030812	-		18152586	1	no_errors	ENST00000375406	ensembl	human	known	74_37	missense	SNP	0.000	T	T	18152586	C	T	18152586	3	4	211	1	0	0	0	0	1	0	0	0	202	884	31	1	679	1	ACTL8	1	18152586	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09		18152586	231098035	1	17267											
COL8A2	1296	genome.wustl.edu	37	chr1	36563894	36563920	+	In_Frame_Del	DEL	CCTGAGGGACCCCTCAGGCCAGGCTGC	CCTGAGGGACCCCTCAGGCCAGGCTGC	-													gaccctggagtcctgggattCctgagggacccctcaggcca					rs80358191		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	CCTGAGGGACCCCTCAGGCCAGGCTGC	CCTGAGGGACCCCTCAGGCCAGGCTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:36563894_36563920delCCTGAGGGACCCCTCAGGCCAGGCTGC	ENST00000397799.1	-	4	1586_1612	c.1362_1388delGCAGCCTGGCCTGAGGGGTCCCTCAGG	c.(1360-1389)gggcagcctggcctgaggggtccctcagga>gga	p.454_463GQPGLRGPSG>G	COL8A2_ENST00000303143.4_In_Frame_Del_p.454_463GQPGLRGPSG>G|COL8A2_ENST00000481785.1_In_Frame_Del_p.389_398GQPGLRGPSG>G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	454	Triple-helical region.		Q -> K (in FECD1 and PPCD2). {ECO:0000269|PubMed:11689488}.		angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCC	0.7																																																	0			GRCh37	CM013254|CX086575	COL8A2	M|X	rs80358191	ENSG00000171812																																			COL8A2	SO:0001651	inframe_deletion	0				HGNC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1362_1388delGCAGCCTGGCCTGAGGGGTCCCTCAGG	1.37:g.36563894_36563920delCCTGAGGGACCCCTCAGGCCAGGCTGC	ENSP00000380901:p.Gly454_Ser462del	Somatic					0.366510328418816	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5JV31|Q8TEJ5	In_Frame_Del	DEL							pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.QPGLRGPSG455in_frame_del	ENST00000397799.1	37	c.1388_1362	CCDS403.1	1																																																																																			-	pfam_Collagen		0.7	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	protein_coding	OTTHUMT00000313674.1	CCTGAGGGACCCCTCAGGCCAGGCTGC	NM_005202			36563920	-1	no_errors	ENST00000303143	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.941:1.000:1.000:0.996:1.000:1.000:0.958:1.000:1.000:0.986:1.000:0.996:0.997:0.999:0.990:0.626:1.000:1.000:0.941:1.000:1.000:1.000:1.000:1.000:0.998	-	-	36563920	CCTGAGGGACCCCTCAGGCCAGGCTGC	-	36563894	7	5	211	1	0	1	0	1	0	0	0	0	3708	855	30	0	727	0	COL8A2	1	36563894	In_Frame_Del	DEL	CCTGAGGGACCCCTCAGGCCAGGCTGC	TCGA-SG-A849-01A-11D-A351-09	18411308	36563894	212686727	2	17268											
IL23R	149233	genome.wustl.edu	37	chr1	67724171	67724171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcctaggaaaatagtgAacttatgaataataattcca	5	5	0	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:67724171A>G	ENST00000347310.5	+	11	1421	c.1250A>G	c.(1249-1251)gAa>gGa	p.E417G	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.E162G	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	417					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GAAAATAGTGAACTTATGAAT	0.323																																																	0								ENSG00000162594						84	101	96					1																	67724171		2197	4299	6496	IL23R	SO:0001583	missense	0			-	HGNC	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1250A>G	1.37:g.67724171A>G	ENSP00000321345:p.Glu417Gly	Somatic	0	62	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP							superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E417G	ENST00000347310.5	37	c.1250	CCDS637.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.71|12.71	2.019593|2.019593	0.35606|0.35606	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.42131|.	0.98;1.16|.	6.07|6.07	3.73|3.73	0.42828|0.42828	.|.	0.394223|.	0.24154|.	N|.	0.041056|.	T|T	0.25419|0.25419	0.0618|0.0618	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.23249|.	0.047;0.021;0.082;0.047;0.047;0.047;0.037|.	B;B;B;B;B;B;B|.	0.25140|.	0.039;0.016;0.058;0.039;0.039;0.039;0.039|.	T|T	0.29731|0.29731	-1.0002|-1.0002	10|5	0.54805|.	T|.	0.06|.	.|.	5.1728|5.1728	0.15120|0.15120	0.7523:0.0:0.0842:0.1635|0.7523:0.0:0.0842:0.1635	.|.	163;241;52;175;15;162;417|.	Q5VWK5-2;B6HY71;Q5VWK5-5;E9PHX4;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;IL23R_HUMAN|.	G|D	417;246;175;162|179	ENSP00000321345:E417G;ENSP00000378652:E162G|.	ENSP00000321345:E417G|.	E|N	+|+	2|1	0|0	IL23R|IL23R	67496759|67496759	0.958000|0.958000	0.32768|0.32768	0.115000|0.115000	0.21578|0.21578	0.040000|0.040000	0.13550|0.13550	1.996000|1.996000	0.40776|0.40776	0.509000|0.509000	0.28195|0.28195	0.533000|0.533000	0.62120|0.62120	GAA|AAC	-	NULL		0.323	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	protein_coding	OTTHUMT00000025199.2	A	NM_144701	-		67724171	1	no_errors	ENST00000347310	ensembl	human	known	74_37	missense	SNP	0.194	G	G	67724171	A	G	67724171	3	3	211	1	0	0	0	0	1	0	0	0	7678	246	9	5	1288	5	IL23R	1	67724171	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09	31160277	67724171	181526450	3	17269											
SELP	6403	genome.wustl.edu	37	chr1	169580819	169580819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtagccgggctggcacTcaaatttacagctggagcca	11	12	2	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:169580819T>C	ENST00000263686.6	-	7	1095	c.1058A>G	c.(1057-1059)gAg>gGg	p.E353G	SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.E291G|SELP_ENST00000367793.2_Missense_Mutation_p.E291G	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	353	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGGCTGGCACTCAAATTTACA	0.557																																																	0								ENSG00000174175						109	107	108					1																	169580819		2203	4300	6503	SELP	SO:0001583	missense	0			-	HGNC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1058A>G	1.37:g.169580819T>C	ENSP00000263686:p.Glu353Gly	Somatic	0	99	0		0.366510328418816	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	84	13.40	Q5R344|Q8IVD1	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.E353G	ENST00000263686.6	37	c.1058	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	T	7.638	0.680205	0.14907	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	T;T;T	0.66638	-0.22;-0.22;-0.22	5.22	1.55	0.23275	Complement control module (2);Sushi/SCR/CCP (3);	1.039030	0.07562	N	0.917208	T	0.34803	0.0910	L	0.43646	1.37	0.09310	N	1	B;B;P	0.41848	0.425;0.425;0.763	B;B;B	0.37508	0.252;0.182;0.229	T	0.27226	-1.0080	10	0.51188	T	0.08	-0.3812	3.6344	0.08143	0.0:0.28:0.2205:0.4995	.	353;353;353	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	G	353;352;353;353;291;291	ENSP00000263686:E353G;ENSP00000356767:E291G;ENSP00000356762:E291G	ENSP00000263686:E353G	E	-	2	0	SELP	167847443	0.000000	0.05858	0.334000	0.25495	0.212000	0.24457	-0.096000	0.11059	0.844000	0.35094	0.533000	0.62120	GAG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.557	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	protein_coding	OTTHUMT00000083916.4	T	NM_003005	-		169580819	-1	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	SNP	0.010	C	C	169580819	T	C	169580819	3	2	211	1	0	0	0	0	1	0	0	0	14027	1551	54	5	1474	5	SELP	1	169580819	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	101856648	169580819	79669802	4	17270											
OR2G3	81469	genome.wustl.edu	37	chr1	247769075	247769075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccccaatgtacttttttcTcagcaacctctctttactgg	4	13	2	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:247769075T>C	ENST00000320002.2	+	1	220	c.188T>C	c.(187-189)cTc>cCc	p.L63P	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TACTTTTTTCTCAGCAACCTC	0.438																																																	0								ENSG00000177476						267	257	260					1																	247769075		2203	4300	6503	OR2G3	SO:0001583	missense	0			-	HGNC	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.188T>C	1.37:g.247769075T>C	ENSP00000326301:p.Leu63Pro	Somatic	0	57	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L63P	ENST00000320002.2	37	c.188	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440438	0.43326	.	.	ENSG00000177476	ENST00000320002	T	0.14893	2.47	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33272	U	0.005083	T	0.61652	0.2364	H	0.99906	4.925	0.52099	D	0.999945	D	0.89917	1.0	D	0.74023	0.982	T	0.77222	-0.2667	10	0.87932	D	0	.	10.8362	0.46688	0.0:0.0:0.0:1.0	.	63	Q8NGZ4	OR2G3_HUMAN	P	63	ENSP00000326301:L63P	ENSP00000326301:L63P	L	+	2	0	OR2G3	245835698	0.447000	0.25673	0.592000	0.28758	0.206000	0.24218	4.593000	0.61034	1.719000	0.51432	0.398000	0.26397	CTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.438	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	protein_coding	OTTHUMT00000097624.1	T		-		247769075	1	no_errors	ENST00000320002	ensembl	human	known	74_37	missense	SNP	0.968	C	C	247769075	T	C	247769075	3	2	211	1	0	0	0	0	1	0	0	0	11001	1551	54	5	190	5	OR2G3	1	247769075	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	78188256	247769075	1481546	5	17271											
BIRC6	57448	genome.wustl.edu	37	chr2	32728303	32728303	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcataactttgcacccctcGgtaagaaaagtgttactaaa	6	9	1	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:32728303G>T	ENST00000421745.2	+	49	9633	c.9499G>T	c.(9499-9501)Ggt>Tgt	p.G3167C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3167					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCACCCCTCGGTAAGAAAAG	0.348																																					Pancreas(94;175 1509 16028 18060 45422)												0								ENSG00000115760						57	56	56					2																	32728303		2203	4300	6503	BIRC6	SO:0001630	splice_region_variant	0			-	HGNC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9499+1G>T	2.37:g.32728303G>T		Somatic	0	15	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	Q9ULD1	Missense_Mutation	SNP							pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.G3167C	ENST00000421745.2	37	c.9499	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803379	0.50315	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79434	-0.1805	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3167	Q9NR09	BIRC6_HUMAN	C	3167	ENSP00000393596:G3167C	ENSP00000393596:G3167C	G	+	1	0	BIRC6	32581807	1.000000	0.71417	0.971000	0.41717	0.668000	0.39293	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT	-	NULL		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	G	NM_016252	-	Missense_Mutation	32728303	1	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32728303	G	T	32728303	5	4	211	1	0	0	0	0	0	0	1	0	1438	1130	39	3	9693	3	BIRC6	2	32728303	Splice_Site	SNP	G	TCGA-SG-A849-01A-11D-A351-09		32728303	210471070	6	17272											
DYSF	8291	genome.wustl.edu	37	chr2	71896858	71896858	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacctgccagctgagcaagtCtgtaccattgccaagaaggt	10	11	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:71896858C>A	ENST00000258104.3	+	50	5926	c.5649C>A	c.(5647-5649)gtC>gtA	p.V1883V	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.V1922V|DYSF_ENST00000409582.3_Silent_p.V1921V|DYSF_ENST00000413539.2_Silent_p.V1914V|DYSF_ENST00000409366.1_Silent_p.V1905V|DYSF_ENST00000409744.1_Silent_p.V1891V|DYSF_ENST00000394120.2_Silent_p.V1884V|DYSF_ENST00000429174.2_Silent_p.V1904V|DYSF_ENST00000409651.1_Silent_p.V1915V|DYSF_ENST00000409762.1_Silent_p.V1900V|DYSF_ENST00000410041.1_Silent_p.V1901V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1883	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						CTGAGCAAGTCTGTACCATTG	0.537																																																	0								ENSG00000135636						172	142	152					2																	71896858		2203	4300	6503	DYSF	SO:0001819	synonymous_variant	0			-	HGNC	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.5649C>A	2.37:g.71896858C>A		Somatic	0	91	0		0.366510328418816	167	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP							pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.V1914	ENST00000258104.3	37	c.5742	CCDS1918.1	2																																																																																			-	superfamily_C2_dom,smart_C2_dom		0.537	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	C	NM_003494	-		71896858	1	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	SNP	0.999	A	A	71896858	C	A	71896858	2	1	211	1	0	0	0	0	0	0	0	1	4861	900	32	3		3	DYSF	2	71896858	Silent	SNP	C	TCGA-SG-A849-01A-11D-A351-09	39168555	71896858	171302515	7	17273											
SLC4A3	6508	genome.wustl.edu	37	chr2	220500504	220500504	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgaggcgccggtacccGcactaccccagtgacctgcg	13	15	0	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:220500504G>T	ENST00000358055.3	+	14	2594	c.2082G>T	c.(2080-2082)ccG>ccT	p.P694P	SLC4A3_ENST00000373760.2_Silent_p.P694P|SLC4A3_ENST00000373762.3_Silent_p.P721P|SLC4A3_ENST00000317151.3_Silent_p.P694P|SLC4A3_ENST00000273063.6_Silent_p.P721P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	694					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)		GCCGGTACCCGCACTACCCCA	0.642																																																	0								ENSG00000114923						35	35	35					2																	220500504		2203	4300	6503	SLC4A3	SO:0001819	synonymous_variant	0			-	HGNC		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.2082G>T	2.37:g.220500504G>T		Somatic	0	74	0		0.366510328418816	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.P721	ENST00000358055.3	37	c.2163	CCDS2445.1	2																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	G	NM_005070	-		220500504	1	no_errors	ENST00000273063	ensembl	human	known	74_37	silent	SNP	0.021	T	T	220500504	G	T	220500504	2	4	211	1	0	0	0	0	0	0	0	1	14663	1074	38	3		3	SLC4A3	2	220500504	Silent	SNP	G	TCGA-SG-A849-01A-11D-A351-09	148603646	220500504	22698869	8	17274											
EOMES	8320	genome.wustl.edu	37	chr3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC													ggcggcggcggcggcggcggINSctgcagcggcggagggcagc					rs368178421|rs1874198|rs3062761	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767														2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0								ENSG00000163508			101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				EOMES	SO:0001652	inframe_insertion	0				HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla	Somatic					0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																			-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	-	NM_005442			27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	INS	0.116:0.075	CGGCGC	CGGCGC	27763428	-	CGGCGC	27763427	7	5	211	1	0	1	1	0	0	0	0	0	5149	1203	42	0	1725	0	EOMES	3	27763427	In_Frame_Ins	INS	-	TCGA-SG-A849-01A-11D-A351-09		27763427	170259003	9	17275											
CCR3	1232	genome.wustl.edu	37	chr3	46307342	46307343	+	Frame_Shift_Ins	INS	-	-	A													cgctgctgaggtgccccagtINSaaaaaaaagtacaaggccat							TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:46307342_46307343insA	ENST00000357422.2	+	4	1236_1237	c.693_694insA	c.(694-696)aaafs	p.K232fs	CCR3_ENST00000541018.1_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000395940.2_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000395942.2_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000545097.1_Frame_Shift_Ins_p.K253fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	232					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGCCCCAGTAAAAAAAAGTA	0.465																																																	0								ENSG00000183625																																			CCR3	SO:0001589	frameshift_variant	0				HGNC	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.701dupA	3.37:g.46307350_46307350dupA	ENSP00000350003:p.Lys232fs	Somatic	0	38	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Ins	INS							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.Y255fs	ENST00000357422.2	37	c.756_757	CCDS2738.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1		0.465	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	protein_coding	OTTHUMT00000257380.2	-				46307343	1	no_errors	ENST00000545097	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	A	A	46307343	-	A	46307342	7	5	211	1	0	1	1	0	0	0	0	0	2944	1635	57	0	762	0	CCR3	3	46307342	Frame_Shift_Ins	INS	-	TCGA-SG-A849-01A-11D-A351-09	18543915	46307342	151715088	10	17276											
C3orf15	89876	genome.wustl.edu	37	chr3	119462961	119462961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggctgagcgccagcGgcgggtacgagaggctgaag	18	10	0	3	rs556802557		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:119462961G>A	ENST00000273390.5	+	14	1897	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	443						mitochondrion (GO:0005739)											GAGCGCCAGCGGCGGGTACGA	0.587																																																	0								ENSG00000183833						74	70	71					3																	119462961		2203	4300	6503	MAATS1	SO:0001583	missense	0			-	HGNC	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1820G>A	3.37:g.119462961G>A	ENSP00000273390:p.Arg607Gln	Somatic	0	36	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP							superfamily_S-AdoMet_deCO2ase_core	p.R607Q	ENST00000273390.5	37	c.1820	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.844809	0.97016	.	.	ENSG00000183833	ENST00000273390	T	0.60040	0.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83537	0.0094	10	0.87932	D	0	-12.1194	19.7305	0.96180	0.0:0.0:1.0:0.0	.	443;545;607	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	Q	607	ENSP00000273390:R607Q	ENSP00000273390:R607Q	R	+	2	0	C3orf15	120945651	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGG	-	NULL		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	protein_coding	OTTHUMT00000355222.1	G	NM_033364	-		119462961	1	no_errors	ENST00000273390	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119462961	G	A	119462961	3	1	211	1	0	0	0	0	1	0	0	0	2211	1116	39	1	1874	1	C3orf15	3	119462961	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	73155619	119462961	78559469	11	17277											
KCNIP4	80333	genome.wustl.edu	37	chr4	20852198	20852198	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgtaaaggatctgaagctCtttcttggtaaatttgctct	8	7	5	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:20852198C>G	ENST00000382152.2	-	3	423	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	KCNIP4_ENST00000382148.3_Missense_Mutation_p.E61Q|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E24Q|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E52Q|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E65Q|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E24Q	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	86	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATCTGAAGCTCTTTCTTGGTA	0.453																																																	0								ENSG00000185774						84	89	87					4																	20852198		2203	4300	6503	KCNIP4	SO:0001583	missense	0			-	HGNC	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.256G>C	4.37:g.20852198C>G	ENSP00000371587:p.Glu86Gln	Somatic	0	76	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	53	15.87	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP							pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E65Q	ENST00000382152.2	37	c.193	CCDS43216.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.376147	0.95945	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.42	5.42	0.78866	EF-hand-like domain (1);	0.228496	0.46758	D	0.000266	T	0.57227	0.2039	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.69078	0.985;0.985;0.997;0.993	P;P;P;P	0.55749	0.71;0.783;0.783;0.769	T	0.66480	-0.5913	10	0.87932	D	0	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	61;65;69;86	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	Q	61;52;65;24;86;24;24	ENSP00000371583:E61Q;ENSP00000399080:E52Q;ENSP00000371585:E65Q;ENSP00000371587:E86Q;ENSP00000423257:E24Q;ENSP00000351892:E24Q	ENSP00000351892:E24Q	E	-	1	0	KCNIP4	20461296	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.521000	0.84997	0.655000	0.94253	GAG	-	prints_Recoverin		0.453	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	KCNIP4	protein_coding	OTTHUMT00000360407.3	C	NM_025221	-		20852198	-1	no_errors	ENST00000382150	ensembl	human	known	74_37	missense	SNP	1.000	G	G	20852198	C	G	20852198	3	3	211	1	0	0	0	0	1	0	0	0	8044	922	32	4	524	4	KCNIP4	4	20852198	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09		20852198	170302078	12	17278											
ADH7	131	genome.wustl.edu	37	chr4	100349015	100349015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagctgcatcatcaAtcttagcaacagaagattca	9	9	4	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:100349015A>G	ENST00000209665.4	-	5	755	c.515T>C	c.(514-516)aTt>aCt	p.I172T	ADH7_ENST00000476959.1_Missense_Mutation_p.I180T|ADH7_ENST00000482593.1_Missense_Mutation_p.I103T|ADH7_ENST00000437033.2_Missense_Mutation_p.I160T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	172					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TGCATCATCAATCTTAGCAAC	0.453																																																	0								ENSG00000196344						218	176	190					4																	100349015		2203	4299	6502	ADH7	SO:0001583	missense	0			-	HGNC	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.515T>C	4.37:g.100349015A>G	ENSP00000209665:p.Ile172Thr	Somatic	0	66	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	53	15.87	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP							pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.I172T	ENST00000209665.4	37	c.515	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290545	0.59976	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	4.81	0.978	0.19740	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.228762	0.43579	D	0.000552	T	0.23727	0.0574	M	0.89840	3.065	0.23991	N	0.996246	D	0.59767	0.986	D	0.71870	0.975	T	0.04333	-1.0959	10	0.87932	D	0	-18.024	6.1393	0.20251	0.7232:0.1356:0.1413:0.0	.	172	P40394	ADH7_HUMAN	T	160;172;103;180;103	ENSP00000414254:I160T;ENSP00000209665:I172T;ENSP00000420613:I103T;ENSP00000420269:I180T;ENSP00000420300:I103T	ENSP00000209665:I172T	I	-	2	0	ADH7	100568038	0.168000	0.22989	0.000000	0.03702	0.086000	0.17979	2.451000	0.44952	0.037000	0.15575	0.533000	0.62120	ATT	-	pfam_ADH_GroES-like,superfamily_GroES-like		0.453	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	protein_coding		A	NM_000673	-		100349015	-1	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	SNP	0.348	G	G	100349015	A	G	100349015	3	3	211	1	0	0	0	0	1	0	0	0	313	101	4	5	665	5	ADH7	4	100349015	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09	79496817	100349015	90805261	13	17279											
TBC1D9	23158	genome.wustl.edu	37	chr4	141548601	141548601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtcacttaccatgtgTacattctggggtaatatctt	8	7	3	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:141548601T>C	ENST00000442267.2	-	18	2967	c.2893A>G	c.(2893-2895)Aca>Gca	p.T965A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	965							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTACCATGTGTACATTCTGGG	0.403																																																	0								ENSG00000109436						75	74	75					4																	141548601		1855	4084	5939	TBC1D9	SO:0001583	missense	0			-	HGNC	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2893A>G	4.37:g.141548601T>C	ENSP00000411197:p.Thr965Ala	Somatic	0	61	0		0.366510328418816	15	42.31	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.T965A	ENST00000442267.2	37	c.2893	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523315	0.44866	.	.	ENSG00000109436	ENST00000442267	T	0.07688	3.17	5.7	5.7	0.88788	.	0.127081	0.53938	D	0.000052	T	0.07728	0.0194	L	0.38838	1.175	0.48762	D	0.999702	B	0.02656	0.0	B	0.04013	0.001	T	0.12941	-1.0528	10	0.06891	T	0.86	-5.3443	15.9767	0.80071	0.0:0.0:0.0:1.0	.	965	Q6ZT07	TBCD9_HUMAN	A	965	ENSP00000411197:T965A	ENSP00000411197:T965A	T	-	1	0	TBC1D9	141768051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.485000	0.66850	2.186000	0.69663	0.533000	0.62120	ACA	-	NULL		0.403	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	protein_coding	OTTHUMT00000364806.1	T	NM_015130	-		141548601	-1	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141548601	T	C	141548601	3	2	211	1	0	0	0	0	1	0	0	0	15634	1638	57	5	923	5	TBC1D9	4	141548601	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	41199586	141548601	49605675	14	17280											
RBM27	54439	genome.wustl.edu	37	chr5	145640406	145640406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccctcaggaattgaacaAcattaccaagctcaatgaac	5	11	2	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr5:145640406A>G	ENST00000265271.5	+	12	2004	c.1838A>G	c.(1837-1839)aAc>aGc	p.N613S	RBM27_ENST00000506502.1_Missense_Mutation_p.N558S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	613	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTGAACAACATTACCAAG	0.358																																																	0								ENSG00000091009						158	138	144					5																	145640406		1568	3582	5150	RBM27	SO:0001583	missense	0			-	HGNC	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1838A>G	5.37:g.145640406A>G	ENSP00000265271:p.Asn613Ser	Somatic	0	91	0		0.366510328418816	4	76.47	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	45	27.42	Q8IYW9	Missense_Mutation	SNP							pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.N613S	ENST00000265271.5	37	c.1838	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930378	0.92389	.	.	ENSG00000091009	ENST00000265271	T	0.50001	0.76	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.46614	1.455	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.956;0.978	T	0.58775	-0.7577	10	0.36615	T	0.2	-14.8407	16.8222	0.85835	1.0:0.0:0.0:0.0	.	613;558	Q9P2N5;B3KY61	RBM27_HUMAN;.	S	613	ENSP00000265271:N613S	ENSP00000265271:N613S	N	+	2	0	RBM27	145620599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.810000	0.75216	2.371000	0.80710	0.533000	0.62120	AAC	-	smart_RRM_dom,pfscan_RRM_dom		0.358	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	protein_coding	OTTHUMT00000373420.1	A	XM_291128	-		145640406	1	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	SNP	1.000	G	G	145640406	A	G	145640406	3	3	211	1	0	0	0	0	1	0	0	0	13135	43	2	5	1884	5	RBM27	5	145640406	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09		145640406	35274854	15	17281											
FGFR4	2264	genome.wustl.edu	37	chr5	176523681	176523681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcatcccggtggaggagCtgttctcgctgctgcgggag	17	11	1	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr5:176523681C>T	ENST00000292408.4	+	16	2337	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	FGFR4_ENST00000292410.3_Silent_p.L658L|FGFR4_ENST00000393637.1_Silent_p.L658L|FGFR4_ENST00000502906.1_Silent_p.L698L|FGFR4_ENST00000393648.2_Silent_p.L630L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	GGTGGAGGAGCTGTTCTCGCT	0.652										TSP Lung(9;0.080)																																							0								ENSG00000160867						70	68	69					5																	176523681		2203	4300	6503	FGFR4	SO:0001819	synonymous_variant	0			-	HGNC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2092C>T	5.37:g.176523681C>T		Somatic	0	104	0		0.366510328418816	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.32	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L698	ENST00000292408.4	37	c.2092	CCDS4410.1	5																																																																																			-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	C		-		176523681	1	no_errors	ENST00000292408	ensembl	human	known	74_37	silent	SNP	1.000	T	T	176523681	C	T	176523681	2	4	211	1	0	0	0	0	0	0	0	1	5870	796	28	2		2	FGFR4	5	176523681	Silent	SNP	C	TCGA-SG-A849-01A-11D-A351-09	30883275	176523681	4391579	16	17282											
JARID2	3720	genome.wustl.edu	37	chr6	15497191	15497191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacatcgagtcggtccgcGctcaggtggagaagttcggg	15	10	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:15497191G>T	ENST00000341776.2	+	7	1979	c.1735G>T	c.(1735-1737)Gct>Tct	p.A579S	JARID2_ENST00000397311.3_Missense_Mutation_p.A407S|JARID2_ENST00000541660.1_Missense_Mutation_p.A541S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	579	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTCGGTCCGCGCTCAGGTGGA	0.647																																																	0								ENSG00000008083						61	54	57					6																	15497191		2203	4300	6503	JARID2	SO:0001583	missense	0			-	HGNC	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1735G>T	6.37:g.15497191G>T	ENSP00000341280:p.Ala579Ser	Somatic	1	105	0.94		0.366510328418816	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	48	14.29	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.A579S	ENST00000341776.2	37	c.1735	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679954	0.47886	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.19532	2.14;2.14;2.14	5.23	3.39	0.38822	Transcription factor jumonji, JmjN (3);	0.164146	0.53938	D	0.000052	T	0.06645	0.0170	N	0.16201	0.385	0.37124	D	0.900951	B;B;B	0.28820	0.224;0.064;0.1	B;B;B	0.31869	0.137;0.068;0.107	T	0.12578	-1.0542	10	0.42905	T	0.14	-0.2998	15.5962	0.76583	0.0:0.4104:0.5896:0.0	.	541;443;579	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	S	443;579;407;541	ENSP00000341280:A579S;ENSP00000380478:A407S;ENSP00000444623:A541S	ENSP00000341280:A579S	A	+	1	0	JARID2	15605170	1.000000	0.71417	0.945000	0.38365	0.994000	0.84299	5.446000	0.66600	0.548000	0.28955	0.511000	0.50034	GCT	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.647	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	protein_coding	OTTHUMT00000039926.1	G	NM_004973	-		15497191	1	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15497191	G	T	15497191	3	4	211	1	0	0	0	0	1	0	0	0	7947	1087	38	3	1761	3	JARID2	6	15497191	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09		15497191	155617876	17	17283											
KIF6	221458	genome.wustl.edu	37	chr6	39328280	39328280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatctccaccttcagggctTtcaggcgagtgaacattgtt	10	11	3	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:39328280T>G	ENST00000287152.7	-	18	2067	c.1973A>C	c.(1972-1974)aAa>aCa	p.K658T	KIF6_ENST00000541946.1_Missense_Mutation_p.K109T|KIF6_ENST00000373213.4_Missense_Mutation_p.K497T|KIF6_ENST00000538893.1_Missense_Mutation_p.K602T|KIF6_ENST00000229913.5_Missense_Mutation_p.K109T|KIF6_ENST00000394362.1_Missense_Mutation_p.K109T|KIF6_ENST00000373215.3_Missense_Mutation_p.K641T|KIF6_ENST00000373216.3_Missense_Mutation_p.K658T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	658					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTCAGGGCTTTCAGGCGAGT	0.527																																																	0								ENSG00000164627						99	88	92					6																	39328280		2203	4300	6503	KIF6	SO:0001583	missense	0			-	HGNC	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1973A>C	6.37:g.39328280T>G	ENSP00000287152:p.Lys658Thr	Somatic	0	55	0		0.366510328418816	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K658T	ENST00000287152.7	37	c.1973	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.279679|4.279679	0.80692|0.80692	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	T|T;T;T;T;T;T;T;T	0.43688|0.46063	0.94|0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|.	.|.	.|.	.|.	T|T	0.54431|0.54431	0.1858|0.1858	M|M	0.71036|0.71036	2.16|2.16	0.52501|0.52501	D|D	0.999951|0.999951	.|D;D;D;D	.|0.89917	.|1.0;0.994;0.996;1.0	.|D;P;D;D	.|0.83275	.|0.993;0.891;0.923;0.996	T|T	0.60984|0.60984	-0.7154|-0.7154	7|9	0.56958|0.66056	D|D	0.05|0.02	.|.	13.7038|13.7038	0.62624|0.62624	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|641;602;658;658	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	Q|T	550|658;109;658;497;109;641;602;109;109	ENSP00000409417:K550Q|ENSP00000287152:K658T;ENSP00000377889:K109T;ENSP00000362312:K658T;ENSP00000362309:K497T;ENSP00000229913:K109T;ENSP00000362311:K641T;ENSP00000441435:K602T;ENSP00000439064:K109T	ENSP00000409417:K550Q|ENSP00000229913:K109T	K|K	-|-	1|2	0|0	KIF6|KIF6	39436258|39436258	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	6.575000|6.575000	0.74018|0.74018	1.796000|1.796000	0.52611|0.52611	0.379000|0.379000	0.24179|0.24179	AAG|AAA	-	NULL		0.527	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	protein_coding	OTTHUMT00000040455.2	T	NM_145027	-		39328280	-1	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	SNP	1.000	G	G	39328280	T	G	39328280	3	3	211	1	0	0	0	0	1	0	0	0	8310	1841	64	5	495	5	KIF6	6	39328280	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	23831089	39328280	131786787	18	17284											
TIAM2	26230	genome.wustl.edu	37	chr6	155469272	155469272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagacagatctagaaaactGggtcactgctgtacactctg	9	11	3	3			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:155469272G>T	ENST00000461783.3	+	9	3105	c.1832G>T	c.(1831-1833)tGg>tTg	p.W611L	TIAM2_ENST00000360366.4_Missense_Mutation_p.W611L|TIAM2_ENST00000318981.5_Missense_Mutation_p.W611L|TIAM2_ENST00000529824.2_Missense_Mutation_p.W611L|TIAM2_ENST00000456877.2_5'Flank|TIAM2_ENST00000528391.2_5'Flank|TIAM2_ENST00000456144.1_Missense_Mutation_p.W611L|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	611	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTAGAAAACTGGGTCACTGCT	0.498																																																	0								ENSG00000146426						124	123	123					6																	155469272		2203	4300	6503	TIAM2	SO:0001583	missense	0			-	HGNC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1832G>T	6.37:g.155469272G>T	ENSP00000437188:p.Trp611Leu	Somatic	0	73	0		0.366510328418816	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.W611L	ENST00000461783.3	37	c.1832	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023718	0.93462	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	D;D;D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72;-5.72;-5.72	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99194	1.0871	10	0.87932	D	0	.	19.1024	0.93279	0.0:0.0:1.0:0.0	.	611;611	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	L	611;857;611;611;611;611;611	ENSP00000437188:W611L;ENSP00000434901:W611L;ENSP00000407746:W611L;ENSP00000327315:W611L;ENSP00000353528:W611L;ENSP00000433348:W611L	ENSP00000327315:W611L	W	+	2	0	TIAM2	155510964	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.476000	0.97823	2.503000	0.84419	0.563000	0.77884	TGG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	protein_coding	OTTHUMT00000387980.2	G	NM_012454	-		155469272	1	no_errors	ENST00000456144	ensembl	human	known	74_37	missense	SNP	1.000	T	T	155469272	G	T	155469272	3	4	211	1	0	0	0	0	1	0	0	0	15898	1357	47	3	1846	3	TIAM2	6	155469272	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	116140992	155469272	15645795	19	17285											
ASL	435	genome.wustl.edu	37	chr7	65548130	65548130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgggcctcctctgggagCtcattaggaccatggtggat	13	11	3	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:65548130C>A	ENST00000304874.9	+	6	517	c.415C>A	c.(415-417)Ctc>Atc	p.L139I	ASL_ENST00000380839.4_Missense_Mutation_p.L139I|ASL_ENST00000395331.3_Missense_Mutation_p.L139I|ASL_ENST00000395332.3_Missense_Mutation_p.L139I	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	139					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCTCTGGGAGCTCATTAGGAC	0.632																																																	0								ENSG00000126522						46	42	44					7																	65548130		2203	4300	6503	ASL	SO:0001583	missense	0			-	HGNC		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.415C>A	7.37:g.65548130C>A	ENSP00000307188:p.Leu139Ile	Somatic	0	28	0		0.366510328418816	103	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP							pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.L139I	ENST00000304874.9	37	c.415	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605100	0.46423	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87	4.82	3.0	0.34707	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.82132	2.575	0.80722	D	1	B;P;B;B	0.40681	0.288;0.727;0.335;0.381	P;P;P;P	0.49887	0.625;0.6;0.493;0.614	D	0.98543	1.0633	10	0.66056	D	0.02	.	8.9066	0.35528	0.148:0.7739:0.0:0.078	.	139;139;139;139	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	I	139;139;139;74;139	ENSP00000307188:L139I;ENSP00000370219:L139I;ENSP00000378741:L139I;ENSP00000354710:L74I;ENSP00000378740:L139I	ENSP00000307188:L139I	L	+	1	0	ASL	65185565	1.000000	0.71417	0.910000	0.35882	0.003000	0.03518	4.072000	0.57563	0.627000	0.30340	-1.278000	0.01390	CTC	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase		0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	protein_coding	OTTHUMT00000251695.2	C	NM_000048	-		65548130	1	no_errors	ENST00000304874	ensembl	human	known	74_37	missense	SNP	0.994	A	A	65548130	C	A	65548130	3	1	211	1	0	0	0	0	1	0	0	0	1044	797	28	3	433	3	ASL	7	65548130	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09		65548130	93590533	20	17286											
GRM3	2913	genome.wustl.edu	37	chr7	86415654	86415654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaactcagtgataagtcGcgctatgattactttgccag	9	10	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:86415654G>A	ENST00000361669.2	+	3	1645	c.546G>A	c.(544-546)tcG>tcA	p.S182S	GRM3_ENST00000439827.1_Silent_p.S182S|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.S180S|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.S54S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	182					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)					GTGATAAGTCGCGCTATGATT	0.567																																					GBM(52;969 1098 3139 52280)												0								ENSG00000198822						134	130	131					7																	86415654		2203	4300	6503	GRM3	SO:0001819	synonymous_variant	0			-	HGNC		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.546G>A	7.37:g.86415654G>A		Somatic	0	71	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	72	11.11	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.S182	ENST00000361669.2	37	c.546	CCDS5600.1	7																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G		-		86415654	1	no_errors	ENST00000361669	ensembl	human	known	74_37	silent	SNP	0.026	A	A	86415654	G	A	86415654	2	1	211	1	0	0	0	0	0	0	0	1	6800	1074	38	1		1	GRM3	7	86415654	Silent	SNP	G	TCGA-SG-A849-01A-11D-A351-09	20867524	86415654	72723009	21	17287											
LRRC17	10234	genome.wustl.edu	37	chr7	102575070	102575070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcatcaagcctgaggTggactcaactttttgccaca	8	13	3	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:102575070T>C	ENST00000339431.4	+	2	1005	c.710T>C	c.(709-711)gTg>gCg	p.V237A	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.V237A	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	237	LRRNT.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAGCCTGAGGTGGACTCAACT	0.408																																																	0								ENSG00000128606						56	59	58					7																	102575070		2201	4300	6501	LRRC17	SO:0001583	missense	0			-	HGNC	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.710T>C	7.37:g.102575070T>C	ENSP00000344242:p.Val237Ala	Somatic	0	98	0		0.366510328418816	81	25.69	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	85	14.14	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V237A	ENST00000339431.4	37	c.710	CCDS34721.1	7	.	.	.	.	.	.	.	.	.	.	T	6.816	0.519718	0.13005	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.60171	3.57;0.21	5.58	-1.87	0.07737	.	0.894077	0.09306	N	0.820242	T	0.28001	0.0690	N	0.08118	0	0.25068	N	0.991015	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25779	-1.0122	10	0.07325	T	0.83	-1.9423	6.223	0.20691	0.1143:0.3416:0.0:0.5441	.	237;237	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	A	237	ENSP00000344242:V237A;ENSP00000249377:V237A	ENSP00000249377:V237A	V	+	2	0	LRRC17	102362306	0.713000	0.27926	0.967000	0.41034	0.960000	0.62799	1.203000	0.32284	-0.179000	0.10654	0.460000	0.39030	GTG	-	NULL		0.408	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	protein_coding	OTTHUMT00000347930.1	T	NM_005824	-		102575070	1	no_errors	ENST00000339431	ensembl	human	known	74_37	missense	SNP	0.548	C	C	102575070	T	C	102575070	3	2	211	1	0	0	0	0	1	0	0	0	8975	1696	59	5	712	5	LRRC17	7	102575070	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	16159416	102575070	56563593	22	17288											
CFTR	1080	genome.wustl.edu	37	chr7	117246748	117246748	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgggattcttaatagattcTccaaagatatagcaattttg	8	5	2	2	rs137975784		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:117246748T>A	ENST00000003084.6	+	18	3061	c.2929T>A	c.(2929-2931)Tcc>Acc	p.S977T	CFTR_ENST00000454343.1_Missense_Mutation_p.S916T|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	977	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TAATAGATTCTCCAAAGATAT	0.284									Cystic Fibrosis																																								0			GRCh37	CM960285	CFTR	M	rs137975784	ENSG00000001626						134	140	138					7																	117246748		2203	4292	6495	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2929T>A	7.37:g.117246748T>A	ENSP00000003084:p.Ser977Thr	Somatic	0	66	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.S977T	ENST00000003084.6	37	c.2929	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496481	0.26861	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.88431	-2.38;-2.38;-2.38	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048752	0.85682	D	0.000000	D	0.86024	0.5834	L	0.48362	1.52	0.51012	D	0.999906	B	0.06786	0.001	B	0.15052	0.012	T	0.82143	-0.0603	10	0.44086	T	0.13	-14.9531	15.7338	0.77827	0.0:0.0:0.0:1.0	.	977	P13569	CFTR_HUMAN	T	977;916;947	ENSP00000003084:S977T;ENSP00000403677:S916T;ENSP00000389119:S947T	ENSP00000003084:S977T	S	+	1	0	CFTR	117033984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.864000	0.56024	2.185000	0.69588	0.528000	0.53228	TCC	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel		0.284	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	T	NM_000492	-		117246748	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117246748	T	A	117246748	3	1	211	1	0	0	0	0	1	0	0	0	3296	1551	54	5	2999	5	CFTR	7	117246748	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	14671678	117246748	41891915	23	17289											
RDH10	157506	genome.wustl.edu	37	chr8	74234977	74234977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaagcaggccatgaaGgccatcctcactgaccagcc	11	13	1	3			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr8:74234977G>T	ENST00000240285.5	+	5	1512	c.834G>T	c.(832-834)aaG>aaT	p.K278N	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.K113N	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	278					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			AGGCCATGAAGGCCATCCTCA	0.463																																																	0								ENSG00000121039						106	95	98					8																	74234977		2203	4300	6503	RDH10	SO:0001583	missense	0			-	HGNC	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.834G>T	8.37:g.74234977G>T	ENSP00000240285:p.Lys278Asn	Somatic	0	57	0		0.366510328418816	18	14.29	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50		Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.K278N	ENST00000240285.5	37	c.834	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146478	0.06627	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.89617	-2.54;0.69	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.190862	0.53938	D	0.000041	T	0.70701	0.3254	N	0.03324	-0.35	0.32256	N	0.570744	B	0.02656	0.0	B	0.04013	0.001	T	0.65734	-0.6096	10	0.13853	T	0.58	.	6.2482	0.20832	0.2936:0.0:0.7064:0.0	.	278	Q8IZV5	RDH10_HUMAN	N	278;113	ENSP00000240285:K278N;ENSP00000428132:K113N	ENSP00000240285:K278N	K	+	3	2	RDH10	74397531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.642000	0.37207	1.584000	0.49913	0.591000	0.81541	AAG	-	NULL		0.463	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	protein_coding	OTTHUMT00000378982.1	G		-		74234977	1	no_errors	ENST00000240285	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74234977	G	T	74234977	3	4	211	1	0	0	0	0	1	0	0	0	13197	991	35	3	852	3	RDH10	8	74234977	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09		74234977	72129045	24	17290											
KIAA0020	9933	genome.wustl.edu	37	chr9	2833369	2833369	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctacttacagttttaattttCccttgaatcaacttctgcaa	3	10	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:2833369C>A	ENST00000397885.2	-	5	710	c.504G>T	c.(502-504)ggG>ggT	p.G168G		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	168	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTTTAATTTTCCCTTGAATCA	0.348																																																	0								ENSG00000080608						102	90	94					9																	2833369		2200	4297	6497	KIAA0020	SO:0001819	synonymous_variant	0			-	HGNC	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.504G>T	9.37:g.2833369C>A		Somatic	0	86	0		0.366510328418816	5	90.48	57	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	27	52.63	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP							pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.G168	ENST00000397885.2	37	c.504	CCDS6448.2	9																																																																																			-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.348	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	protein_coding	OTTHUMT00000051529.3	C	NM_014878	-		2833369	-1	no_errors	ENST00000397885	ensembl	human	known	74_37	silent	SNP	0.822	A	A	2833369	C	A	2833369	2	1	211	1	0	0	0	0	0	0	0	1	8154	842	30	3		3	KIAA0020	9	2833369	Silent	SNP	C	TCGA-SG-A849-01A-11D-A351-09		2833369	138380062	25	17291											
TRPM6	140803	genome.wustl.edu	37	chr9	77377882	77377882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcttggccaggagagcCtcatcctcttgcaaagtgtc	9	12	3	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:77377882C>T	ENST00000360774.1	-	26	3942	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	TRPM6_ENST00000361255.3_Silent_p.E1230E|TRPM6_ENST00000449912.2_Silent_p.E1230E|TRPM6_ENST00000451710.3_Silent_p.E1235E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.E1235E|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1235					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAGGAGAGCCTCATCCTCTT	0.517																																																	0								ENSG00000119121						104	103	103					9																	77377882		2203	4300	6503	TRPM6	SO:0001819	synonymous_variant	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3705G>A	9.37:g.77377882C>T		Somatic	0	44	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP							pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E1235	ENST00000360774.1	37	c.3705	CCDS6647.1	9																																																																																			-	NULL		0.517	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	C	NM_017662	-		77377882	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	silent	SNP	1.000	T	T	77377882	C	T	77377882	2	4	211	1	0	0	0	0	0	0	0	1	16597	680	24	2		2	TRPM6	9	77377882	Silent	SNP	C	TCGA-SG-A849-01A-11D-A351-09	74544513	77377882	63835549	26	17292											
ASTN2	23245	genome.wustl.edu	37	chr9	119488226	119488226	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttgagaacattagtgAagcctggacaagagaggagc	14	6	1	3			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:119488226A>T	ENST00000313400.4	-	16	2730	c.2630T>A	c.(2629-2631)tTc>tAc	p.F877Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.F826Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.F873Y			O75129	ASTN2_HUMAN	astrotactin 2	877					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AACATTAGTGAAGCCTGGACA	0.527																																																	0								ENSG00000148219						99	91	93					9																	119488226		2203	4300	6503	ASTN2	SO:0001583	missense	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2630T>A	9.37:g.119488226A>T	ENSP00000314038:p.Phe877Tyr	Somatic	0	43	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.F877Y	ENST00000313400.4	37	c.2630		9	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376331	0.61735	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.93	5.93	0.95920	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.59436	1.845	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.995	P;D;D	0.76071	0.851;0.987;0.945	D	0.93576	0.6908	9	.	.	.	-29.1558	16.3797	0.83452	1.0:0.0:0.0:0.0	.	826;877;873	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	877;873;600;826	ENSP00000314038:F877Y;ENSP00000363108:F873Y;ENSP00000363098:F600Y;ENSP00000354504:F826Y	.	F	-	2	0	ASTN2	118528047	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	9.300000	0.96151	2.271000	0.75665	0.533000	0.62120	TTC	-	pfam_MACPF,smart_MACPF		0.527	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		A	NM_014010	-		119488226	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	SNP	1.000	T	T	119488226	A	T	119488226	3	4	211	1	0	0	0	0	1	0	0	0	1065	246	9	5	1653	5	ASTN2	9	119488226	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09	42110344	119488226	21725205	27	17293											
NUP188	23511	genome.wustl.edu	37	chr9	131755818	131755818	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgcaggaattcagccttggGatgtggagctgtctccatgc	13	9	2	0	rs374088721		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:131755818G>T	ENST00000372577.2	+	27	2883	c.2862G>T	c.(2860-2862)ggG>ggT	p.G954G		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	954					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)|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 pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCAGCCTTGGGATGTGGAGCT	0.557																																																	0								ENSG00000095319						182	166	171					9																	131755818		2203	4300	6503	NUP188	SO:0001819	synonymous_variant	0			-	HGNC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2862G>T	9.37:g.131755818G>T		Somatic	0	50	0		0.366510328418816	57	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP							pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.G954	ENST00000372577.2	37	c.2862	CCDS35156.1	9																																																																																			-	superfamily_ARM-type_fold		0.557	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	protein_coding	OTTHUMT00000054529.2	G		-		131755818	1	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	SNP	0.293	T	T	131755818	G	T	131755818	2	4	211	1	0	0	0	0	0	0	0	1	10760	1161	41	3		3	NUP188	9	131755818	Silent	SNP	G	TCGA-SG-A849-01A-11D-A351-09	12267592	131755818	9457613	28	17294											
BMS1	9790	genome.wustl.edu	37	chr10	43326420	43326422	+	In_Frame_Del	DEL	AGG	AGG	-													gcacttcagagccaagcagaAggaggaggaggagaagctga					rs787800		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr10:43326420_43326422delAGG	ENST00000374518.5	+	23	3788_3790	c.3725_3727delAGG	c.(3724-3729)aaggag>aag	p.E1246del	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1246					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			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						GCCAAGCAGAAGGAGGAGGAGGA	0.522																																																	0								ENSG00000165733																																			BMS1	SO:0001651	inframe_deletion	0				HGNC	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.3725_3727delAGG	10.37:g.43326429_43326431delAGG	ENSP00000363642:p.Glu1246del	Somatic	0	41	0		0.366510328418816	265	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q5QPT5|Q86XJ9	In_Frame_Del	DEL							pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.E1246in_frame_del	ENST00000374518.5	37	c.3725_3727	CCDS7199.1	10																																																																																			-	NULL		0.522	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	AGG	NM_014753			43326422	1	no_errors	ENST00000374518	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	43326422	AGG	-	43326420	7	5	211	1	0	1	0	1	0	0	0	0	1472	72	3	0	3811	0	BMS1	10	43326420	In_Frame_Del	DEL	AGG	TCGA-SG-A849-01A-11D-A351-09		43326420	92208327	29	17295											
PANK1	53354	genome.wustl.edu	37	chr10	91359232	91359232	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaatcagacagtccagttCatccagtttatgcagctgca	8	11	2	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr10:91359232C>A	ENST00000307534.4	-	3	1242	c.1087G>T	c.(1087-1089)Gaa>Taa	p.E363*	PANK1_ENST00000371774.2_Nonsense_Mutation_p.E165*|PANK1_ENST00000322191.6_Nonsense_Mutation_p.E138*|PANK1_ENST00000342512.3_Nonsense_Mutation_p.E138*	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	363					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CAGTCCAGTTCATCCAGTTTA	0.438																																																	0								ENSG00000152782						84	79	81					10																	91359232		2203	4300	6503	PANK1	SO:0001587	stop_gained	0			-	HGNC	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1087G>T	10.37:g.91359232C>A	ENSP00000302108:p.Glu363*	Somatic	0	72	0		0.366510328418816	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.43	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Nonsense_Mutation	SNP							pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.E363*	ENST00000307534.4	37	c.1087	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.612879	0.97705	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	.	.	.	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	.	.	.	X	138;138;165;363;226	.	ENSP00000302108:E363X	E	-	1	0	PANK1	91349212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.799000	0.96334	0.650000	0.86243	GAA	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.438	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	protein_coding		C		-		91359232	-1	no_errors	ENST00000307534	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	91359232	C	A	91359232	4	1	211	1	0	0	0	0	0	1	0	0	11418	835	29	3	729	3	PANK1	10	91359232	Nonsense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09	48032812	91359232	44175515	30	17296											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98386535	98386535	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctctggtctgggcacTgggacagggggcctgctggc	19	10	2	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr10:98386535T>A	ENST00000339364.5	-	10	1718	c.1599A>T	c.(1597-1599)ccA>ccT	p.P533P	PIK3AP1_ENST00000371109.3_Silent_p.P132P|PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371110.2_Silent_p.P355P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	533					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCTGGGCACTGGGACAGGGG	0.532																																																	0								ENSG00000155629						115	106	109					10																	98386535		2203	4300	6503	PIK3AP1	SO:0001819	synonymous_variant	0			-	HGNC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1599A>T	10.37:g.98386535T>A		Somatic	0	76	0		0.366510328418816	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP							superfamily_Ankyrin_rpt-contain_dom	p.P533	ENST00000339364.5	37	c.1599	CCDS31259.1	10																																																																																			-	NULL		0.532	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	protein_coding	OTTHUMT00000049619.2	T	NM_152309	-		98386535	-1	no_errors	ENST00000339364	ensembl	human	known	74_37	silent	SNP	0.425	A	A	98386535	T	A	98386535	2	1	211	1	0	0	0	0	0	0	0	1	11910	1567	55	5		5	PIK3AP1	10	98386535	Silent	SNP	T	TCGA-SG-A849-01A-11D-A351-09	7027303	98386535	37148212	31	17297											
OR52A1	23538	genome.wustl.edu	37	chr11	5172926	5172926	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacgaaaaactgtgataAatatctggatgtaggacaat	9	5	1	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:5172926A>T	ENST00000380367.1	-	2	1091	c.674T>A	c.(673-675)tTt>tAt	p.F225Y	OR52A1_ENST00000328942.1_Missense_Mutation_p.F225Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	225					sensory perception of smell (GO:0007608)|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)|transmembrane signaling receptor activity (GO:0004888)	p.F225C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTGTGATAAATATCTGGAT	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000182070						169	157	161					11																	5172926		2201	4298	6499	OR52A1	SO:0001583	missense	0			-	HGNC	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.674T>A	11.37:g.5172926A>T	ENSP00000369725:p.Phe225Tyr	Somatic	0	72	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	Q6IF31	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F225Y	ENST00000380367.1	37	c.674	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684297	0.68157	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00227	8.5;8.5	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.127327	0.35903	N	0.002907	T	0.00695	0.0023	M	0.88241	2.94	0.23581	N	0.997367	D	0.89917	1.0	D	0.91635	0.999	T	0.35325	-0.9793	10	0.87932	D	0	.	14.3327	0.66569	1.0:0.0:0.0:0.0	.	225	Q9UKL2	O52A1_HUMAN	Y	225	ENSP00000369725:F225Y;ENSP00000333684:F225Y	ENSP00000333684:F225Y	F	-	2	0	OR52A1	5129502	0.977000	0.34250	0.772000	0.31596	0.700000	0.40528	5.254000	0.65457	2.254000	0.74563	0.529000	0.55759	TTT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	protein_coding	OTTHUMT00000142810.2	A	NM_012375	-		5172926	-1	no_errors	ENST00000328942	ensembl	human	known	74_37	missense	SNP	0.825	T	T	5172926	A	T	5172926	3	4	211	1	0	0	0	0	1	0	0	0	11110	14	1	5	266	5	OR52A1	11	5172926	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09		5172926	129833590	32	17298											
FOLH1	2346	genome.wustl.edu	37	chr11	49194970	49194970	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacagctgctccactctgAgggtcaataccaccaaacac	6	15	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:49194970A>C	ENST00000256999.2	-	10	1424	c.1164T>G	c.(1162-1164)ccT>ccG	p.P388P	FOLH1_ENST00000343844.4_Silent_p.P80P|FOLH1_ENST00000356696.3_Silent_p.P388P|FOLH1_ENST00000533034.1_Silent_p.P373P|FOLH1_ENST00000340334.7_Silent_p.P373P|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	388	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CTCCACTCTGAGGGTCAATAC	0.408																																																	0								ENSG00000086205						168	158	161					11																	49194970		2201	4298	6499	FOLH1	SO:0001819	synonymous_variant	0			-	HGNC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1164T>G	11.37:g.49194970A>C		Somatic	0	110	0		0.366510328418816	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	73	10.98	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP							pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.P388	ENST00000256999.2	37	c.1164	CCDS7946.1	11																																																																																			-	pfam_Peptidase_M28		0.408	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	protein_coding	OTTHUMT00000390896.1	A	NM_004476	-		49194970	-1	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	SNP	1.000	C	C	49194970	A	C	49194970	2	2	211	1	0	0	0	0	0	0	0	1	5981	291	11	5		5	FOLH1	11	49194970	Silent	SNP	A	TCGA-SG-A849-01A-11D-A351-09	44022044	49194970	85811546	33	17299											
OR5F1	338674	genome.wustl.edu	37	chr11	55762040	55762040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggataatctgtagctccAgcgtgtctgctaatcccaat	9	10	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:55762040A>G	ENST00000278409.1	-	1	61	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	21					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)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGTAGCTCCAGCGTGTCTGC	0.363																																																	0								ENSG00000149133						63	64	64					11																	55762040		2201	4296	6497	OR5F1	SO:0001583	missense	0			-	HGNC	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.62T>C	11.37:g.55762040A>G	ENSP00000278409:p.Leu21Pro	Somatic	0	58	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	Q495D1|Q6IFB9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L21P	ENST00000278409.1	37	c.62	CCDS31515.1	11	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.952871	0.00470	.	.	ENSG00000149133	ENST00000278409	T	0.00441	7.41	3.03	-5.97	0.02227	.	.	.	.	.	T	0.00073	0.0002	N	0.00335	-1.625	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.34129	-0.9841	9	0.02654	T	1	.	3.911	0.09204	0.1462:0.2558:0.4711:0.1268	.	21	O95221	OR5F1_HUMAN	P	21	ENSP00000278409:L21P	ENSP00000278409:L21P	L	-	2	0	OR5F1	55518616	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.692000	0.01918	-1.203000	0.02652	0.247000	0.18012	CTG	-	NULL		0.363	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	protein_coding	OTTHUMT00000391532.1	A	NM_003697	-		55762040	-1	no_errors	ENST00000278409	ensembl	human	known	74_37	missense	SNP	0.000	G	G	55762040	A	G	55762040	3	3	211	1	0	0	0	0	1	0	0	0	11160	188	7	5	885	5	OR5F1	11	55762040	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09	6567070	55762040	79244476	34	17300											
FAT3	120114	genome.wustl.edu	37	chr11	92623796	92623796	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgattactacctgggTggttatgacattgacagtga	13	6	0	4			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:92623796T>A	ENST00000298047.6	+	27	13304	c.13287T>A	c.(13285-13287)ggT>ggA	p.G4429G	FAT3_ENST00000533797.1_Silent_p.G732G|FAT3_ENST00000409404.2_Silent_p.G4397G|FAT3_ENST00000525166.1_Silent_p.G4279G|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4429					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)				ACTACCTGGGTGGTTATGACA	0.562										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						53	61	58					11																	92623796		2050	4193	6243	FAT3	SO:0001819	synonymous_variant	0			-	HGNC	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.13287T>A	11.37:g.92623796T>A		Somatic	0	58	0		0.366510328418816	0	100	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	B5MDB0|Q96AU6	Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4429	ENST00000298047.6	37	c.13287		11																																																																																			-	NULL		0.562	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		T	NM_001008781	-		92623796	1	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	SNP	0.927	A	A	92623796	T	A	92623796	2	1	211	1	0	0	0	0	0	0	0	1	5693	1683	59	5		5	FAT3	11	92623796	Silent	SNP	T	TCGA-SG-A849-01A-11D-A351-09	36861756	92623796	42382720	35	17301											
RECQL	5965	genome.wustl.edu	37	chr12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T													tttattttctttgtcaggacINStttttttttctgaataagct							TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	41					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function																																									1	Deletion - Frameshift(1)	large_intestine(1)						ENSG00000004700		,	10,4254		0,10,2122					,	3.3	0.2			53	10,8244		0,10,4117	no	frameshift,frameshift	RECQL	NM_032941.2,NM_002907.3	,	0,20,6239	A1A1,A1R,RR		0.1212,0.2345,0.1598	,	,		20,12498				RECQL	SO:0001589	frameshift_variant	0				HGNC	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.121dupA	12.37:g.21644555_21644555dupT	ENSP00000416739:p.Val41fs	Somatic	0	33	0		0.366510328418816	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K6G2	Frame_Shift_Ins	INS							pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.V40fs	ENST00000444129.2	37	c.121_120	CCDS31756.1	12																																																																																			-	NULL		0.381	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	protein_coding	OTTHUMT00000402371.1	-	NM_002907			21644547	-1	no_errors	ENST00000421138	ensembl	human	known	74_37	frame_shift_ins	INS	0.028:0.001	T	T	21644547	-	T	21644546	7	5	211	1	0	1	1	0	0	0	0	0	13209	565	20	0	1880	0	RECQL	12	21644546	Frame_Shift_Ins	INS	-	TCGA-SG-A849-01A-11D-A351-09		21644546	112207349	36	17302											
PTPRB	5787	genome.wustl.edu	37	chr12	71003064	71003064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggatagacacagaatggctgGaggccttggactccgccagg	15	10	0	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:71003064G>C	ENST00000261266.5	-	2	139	c.110C>G	c.(109-111)tCc>tGc	p.S37C	PTPRB_ENST00000550358.1_Missense_Mutation_p.S255C|PTPRB_ENST00000334414.6_Missense_Mutation_p.S255C|PTPRB_ENST00000538708.1_Missense_Mutation_p.S37C|PTPRB_ENST00000551525.1_Missense_Mutation_p.S254C|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S37C|PTPRB_ENST00000451516.2_Missense_Mutation_p.S37C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	37	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAATGGCTGGAGGCCTTGGA	0.537																																																	0								ENSG00000127329						55	59	58					12																	71003064		1915	4111	6026	PTPRB	SO:0001583	missense	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.110C>G	12.37:g.71003064G>C	ENSP00000261266:p.Ser37Cys	Somatic	0	67	0		0.366510328418816	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S255C	ENST00000261266.5	37	c.764	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945049	0.34283	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	4.89	4.01	0.46588	Fibronectin, type III (3);	0.436137	0.23110	N	0.051817	T	0.18759	0.0450	L	0.60455	1.87	0.23287	N	0.997973	D;D;D;D;P;D;P;D	0.89917	1.0;1.0;0.995;0.999;0.946;0.989;0.953;0.996	D;D;D;D;P;P;P;P	0.72075	0.976;0.976;0.933;0.954;0.716;0.83;0.859;0.893	T	0.01661	-1.1301	10	0.66056	D	0.02	.	10.5869	0.45288	0.0906:0.0:0.9094:0.0	.	37;37;134;255;254;255;37;255	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	C	255;37;255;255;37;37;37;254;134	ENSP00000334928:S255C;ENSP00000393028:S37C;ENSP00000448058:S255C;ENSP00000438927:S37C;ENSP00000447302:S37C;ENSP00000261266:S37C;ENSP00000448349:S254C;ENSP00000446982:S134C	ENSP00000261266:S37C	S	-	2	0	PTPRB	69289331	1.000000	0.71417	0.991000	0.47740	0.031000	0.12232	2.544000	0.45761	1.278000	0.44430	0.591000	0.81541	TCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.537	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	G		-		71003064	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71003064	G	C	71003064	3	2	211	1	0	0	0	0	1	0	0	0	12804	1174	41	4	6007	4	PTPRB	12	71003064	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	49358518	71003064	62848831	37	17303											
C12orf51	283450	genome.wustl.edu	37	chr12	112638508	112638508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtccttcggtagcctGctgggggcctttccaacatg	13	12	0	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:112638508G>A	ENST00000430131.2	-	54	8380	c.7235C>T	c.(7234-7236)gCa>gTa	p.A2412V	HECTD4_ENST00000377560.5_Missense_Mutation_p.A2662V|HECTD4_ENST00000550722.1_Missense_Mutation_p.A2688V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2412					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCGGTAGCCTGCTGGGGGCCT	0.512																																																	0								ENSG00000173064						120	119	119					12																	112638508		2022	4186	6208	HECTD4	SO:0001583	missense	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7235C>T	12.37:g.112638508G>A	ENSP00000404379:p.Ala2412Val	Somatic	0	122	0		0.366510328418816	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	82	13.68	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.A2662V	ENST00000430131.2	37	c.7985		12	.	.	.	.	.	.	.	.	.	.	G	37	6.174018	0.97348	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000548896	T;T;T	0.47177	0.85;0.85;0.85	5.86	5.86	0.93980	.	.	.	.	.	T	0.58221	0.2107	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60576	-0.7236	9	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	2412	Q9Y4D8	K0614_HUMAN	V	2662;2412;2688;43	ENSP00000366783:A2662V;ENSP00000404379:A2412V;ENSP00000449784:A2688V	ENSP00000366783:A2662V	A	-	2	0	C12orf51	111122891	1.000000	0.71417	0.820000	0.32676	0.997000	0.91878	9.141000	0.94612	2.937000	0.99478	0.650000	0.86243	GCA	-	NULL		0.512	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		G	NM_173813	-		112638508	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112638508	G	A	112638508	3	1	211	1	0	0	0	0	1	0	0	0	1698	1319	46	2	4843	2	C12orf51	12	112638508	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	41635444	112638508	21213387	38	17304											
RPH3A	22895	genome.wustl.edu	37	chr12	113306340	113306340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagcctgtcagtgagCctgctgcccctgaacagcct	10	17	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:113306340C>T	ENST00000389385.4	+	8	1047	c.550C>T	c.(550-552)Cct>Tct	p.P184S	RPH3A_ENST00000420983.2_Missense_Mutation_p.P184S|RPH3A_ENST00000543106.2_Missense_Mutation_p.P184S|RPH3A_ENST00000551052.1_Missense_Mutation_p.P180S|RPH3A_ENST00000415485.3_Missense_Mutation_p.P184S|RPH3A_ENST00000548866.1_Missense_Mutation_p.P135S|RPH3A_ENST00000447659.2_Missense_Mutation_p.P135S|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	184	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGTCAGTGAGCCTGCTGCCCC	0.582																																																	0								ENSG00000089169						46	46	46					12																	113306340		2203	4300	6503	RPH3A	SO:0001583	missense	0			-	HGNC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.550C>T	12.37:g.113306340C>T	ENSP00000374036:p.Pro184Ser	Somatic	0	59	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B7Z3C3|Q96AE0	Missense_Mutation	SNP							pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P184S	ENST00000389385.4	37	c.550	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667126	0.29604	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61859	0.08;0.08;0.07;0.08;0.08;0.07;0.08	5.05	4.15	0.48705	.	0.119542	0.37906	N	0.001891	T	0.40322	0.1112	N	0.24115	0.695	0.34303	D	0.684551	B;B;B;B	0.26081	0.018;0.087;0.087;0.141	B;B;B;B	0.26202	0.007;0.03;0.03;0.067	T	0.48387	-0.9040	10	0.29301	T	0.29	.	8.8341	0.35102	0.0:0.8252:0.0:0.1748	.	135;184;184;180	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	184;184;135;180;184;135;184	ENSP00000440384:P184S;ENSP00000374036:P184S;ENSP00000413254:P135S;ENSP00000448297:P180S;ENSP00000405357:P184S;ENSP00000450347:P135S;ENSP00000408889:P184S	ENSP00000374036:P184S	P	+	1	0	RPH3A	111790723	1.000000	0.71417	0.792000	0.32020	0.181000	0.23173	1.626000	0.37039	1.126000	0.42016	0.655000	0.94253	CCT	-	NULL		0.582	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	protein_coding	OTTHUMT00000405561.1	C	NM_014954	-		113306340	1	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	SNP	0.937	T	T	113306340	C	T	113306340	3	4	211	1	0	0	0	0	1	0	0	0	13559	739	26	2	572	2	RPH3A	12	113306340	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09	667832	113306340	20545555	39	17305											
MARK3	4140	genome.wustl.edu	37	chr14	103969310	103969310	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaaaccactagttcaAtggatcccggggacatgatg	11	9	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr14:103969310A>T	ENST00000429436.2	+	18	2518	c.2008A>T	c.(2008-2010)Atg>Ttg	p.M670L	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.M669L|MARK3_ENST00000440884.3_Missense_Mutation_p.M576L|MARK3_ENST00000553942.1_Missense_Mutation_p.M661L|MARK3_ENST00000303622.9_Missense_Mutation_p.M646L|MARK3_ENST00000335102.5_Missense_Mutation_p.M693L|MARK3_ENST00000216288.7_Missense_Mutation_p.M630L	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	670						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CACTAGTTCAATGGATCCCGG	0.502																																																	0								ENSG00000075413						74	76	75					14																	103969310		2047	4215	6262	MARK3	SO:0001583	missense	0			-	HGNC	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2008A>T	14.37:g.103969310A>T	ENSP00000411397:p.Met670Leu	Somatic	0	110	0		0.366510328418816	464	15.45	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	90	12.50	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M670L	ENST00000429436.2	37	c.2008	CCDS45165.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.18|12.18	1.859241|1.859241	0.32884|0.32884	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76|.	6.08|6.08	4.91|4.91	0.64330|0.64330	Kinase-associated KA1 (2);|.	0.032827|.	0.85682|.	N|.	0.000000|.	T|T	0.59321|0.59321	0.2185|0.2185	L|L	0.45228|0.45228	1.405|1.405	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B;B;B;B;B;B;B|.	0.20459|.	0.045;0.004;0.003;0.002;0.007;0.0;0.0;0.008;0.008|.	B;B;B;B;B;B;B;B;B|.	0.29353|.	0.101;0.007;0.017;0.003;0.017;0.008;0.001;0.036;0.026|.	T|T	0.55179|0.55179	-0.8181|-0.8181	10|5	0.22706|.	T|.	0.39|.	.|.	13.3725|13.3725	0.60721|0.60721	0.8685:0.1315:0.0:0.0|0.8685:0.1315:0.0:0.0	.|.	677;248;669;379;630;670;576;661;646|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	L|H	693;362;576;669;670;646;630;661;248|421	ENSP00000335347:M693L;ENSP00000402104:M576L;ENSP00000408092:M669L;ENSP00000411397:M670L;ENSP00000303698:M646L;ENSP00000216288:M630L;ENSP00000450772:M661L;ENSP00000451623:M248L|.	ENSP00000216288:M661L|.	M|Q	+|+	1|3	0|2	MARK3|MARK3	103039063|103039063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.654000|0.654000	0.38779|0.38779	7.401000|7.401000	0.79962|0.79962	1.087000|1.087000	0.41251|0.41251	0.533000|0.533000	0.62120|0.62120	ATG|CAA	-	superfamily_KA1/Ssp2_C		0.502	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	protein_coding	OTTHUMT00000415144.1	A	NM_001128918	-		103969310	1	no_errors	ENST00000429436	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103969310	A	T	103969310	3	4	211	1	0	0	0	0	1	0	0	0	9316	101	4	5	2078	5	MARK3	14	103969310	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09		103969310	3380230	40	17306											
ZNF280D	54816	genome.wustl.edu	37	chr15	56999299	56999299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttggttgaaaagggttGtcgcccatcaagctgcagag	12	8	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr15:56999299G>A	ENST00000267807.7	-	3	225	c.9C>T	c.(7-9)gaC>gaT	p.D3D	ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000558320.1_Silent_p.D3D|ZNF280D_ENST00000559000.1_Intron|ZNF280D_ENST00000559237.1_Intron	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	3					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)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAAAAGGGTTGTCGCCCATCA	0.373																																																	0								ENSG00000137871						107	94	98					15																	56999299		2192	4292	6484	ZNF280D	SO:0001819	synonymous_variant	0			-	HGNC	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.9C>T	15.37:g.56999299G>A		Somatic	0	109	0		0.366510328418816	56	16.42	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	91	14.95	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D3	ENST00000267807.7	37	c.9	CCDS32245.1	15																																																																																			-	NULL		0.373	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	protein_coding	OTTHUMT00000418891.2	G	XM_370867	-		56999299	-1	no_errors	ENST00000267807	ensembl	human	known	74_37	silent	SNP	0.987	A	A	56999299	G	A	56999299	2	1	211	1	0	0	0	0	0	0	0	1	17824	1368	48	2		2	ZNF280D	15	56999299	Silent	SNP	G	TCGA-SG-A849-01A-11D-A351-09		56999299	45532093	41	17307											
LMAN1L	79748	genome.wustl.edu	37	chr15	75108829	75108829	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggggggctggcttcgtGggacggcatcgggatcttct	17	10	2	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr15:75108829G>A	ENST00000309664.5	+	3	531	c.392G>A	c.(391-393)tGg>tAg	p.W131*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.W131*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	131	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCTTCGTGGGACGGCATC	0.672																																																	0								ENSG00000140506						79	80	80					15																	75108829		2197	4296	6493	LMAN1L	SO:0001587	stop_gained	0			-	HGNC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.392G>A	15.37:g.75108829G>A	ENSP00000310431:p.Trp131*	Somatic	0	108	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	79	13.19	Q6UWN2	Nonsense_Mutation	SNP							pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.W131*	ENST00000309664.5	37	c.392	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327849	0.41197	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	.	.	.	5.29	4.35	0.52113	.	0.642064	0.15546	N	0.256700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0346	0.47793	0.0:0.0:0.8141:0.1859	.	.	.	.	X	131	.	ENSP00000310431:W131X	W	+	2	0	LMAN1L	72895882	0.989000	0.36119	0.409000	0.26459	0.072000	0.16883	2.683000	0.46943	1.180000	0.42898	0.484000	0.47621	TGG	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.672	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	protein_coding	OTTHUMT00000286397.4	G		-		75108829	1	no_errors	ENST00000309664	ensembl	human	known	74_37	nonsense	SNP	0.944	A	A	75108829	G	A	75108829	4	1	211	1	0	0	0	0	0	1	0	0	8839	1357	47	2	402	2	LMAN1L	15	75108829	Nonsense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	18109530	75108829	27422563	42	17308											
MEFV	4210	genome.wustl.edu	37	chr16	3293509	3293509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccatgctgtcttgtctcCaacctccacctcccagtaac	5	17	2	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr16:3293509C>T	ENST00000219596.1	-	10	2017	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	MEFV_ENST00000339854.4_Missense_Mutation_p.G480R|MEFV_ENST00000536379.1_Missense_Mutation_p.G449R|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	660	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	p.G660*(1)		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						GTCTTGTCTCCAACCTCCACC	0.542																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000103313						114	110	111					16																	3293509		2197	4300	6497	MEFV	SO:0001583	missense	0			-	HGNC	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.1978G>A	16.37:g.3293509C>T	ENSP00000219596:p.Gly660Arg	Somatic	0	43	0		0.366510328418816	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP							pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G660R	ENST00000219596.1	37	c.1978	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858895	0.32884	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.63096	-0.02;-0.02;-0.02	5.18	3.23	0.37069	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.538685	0.17060	N	0.188581	T	0.77089	0.4079	M	0.81942	2.565	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.66838	-0.5822	10	0.87932	D	0	-40.5261	10.0663	0.42306	0.0:0.8336:0.0:0.1664	.	660	O15553	MEFV_HUMAN	R	660;660;480;449	ENSP00000219596:G660R;ENSP00000339639:G480R;ENSP00000445079:G449R	ENSP00000219596:G660R	G	-	1	0	MEFV	3233510	0.037000	0.19845	0.852000	0.33557	0.552000	0.35366	1.067000	0.30616	0.691000	0.31592	-0.133000	0.14855	GGA	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	C	NM_000243	-		3293509	-1	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	SNP	0.163	T	T	3293509	C	T	3293509	3	4	211	1	0	0	0	0	1	0	0	0	9461	603	21	2	371	2	MEFV	16	3293509	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09		3293509	87061244	43	17309											
SLC12A4	6560	genome.wustl.edu	37	chr16	67986113	67986113	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgggagggtcaaatatagaCtttatgcccccagcatagat	10	9	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr16:67986113C>G	ENST00000316341.3	-	7	1031	c.891G>C	c.(889-891)aaG>aaC	p.K297N	SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K249N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K297N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K291N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K297N|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K299N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K266N	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	297					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAAATATAGACTTTATGCCCC	0.498																																																	0								ENSG00000124067						98	98	98					16																	67986113		2198	4300	6498	SLC12A4	SO:0001583	missense	0			-	HGNC		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.891G>C	16.37:g.67986113C>G	ENSP00000318557:p.Lys297Asn	Somatic	0	53	0		0.366510328418816	22	24.14	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.K299N	ENST00000316341.3	37	c.897	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291474	0.59976	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	4.94	3.96	0.45880	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.82323	2.585	0.58432	D	0.999997	B;B;D;B;B;B	0.59357	0.018;0.08;0.985;0.138;0.039;0.08	B;B;P;B;B;B	0.60415	0.012;0.081;0.874;0.049;0.021;0.055	D	0.97754	1.0216	10	0.15066	T	0.55	.	10.5908	0.45308	0.0:0.8457:0.0:0.1543	.	299;297;266;291;297;297	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	N	299;266;291;297;297	ENSP00000395983:K299N;ENSP00000438334:K266N;ENSP00000445962:K291N;ENSP00000343374:K297N;ENSP00000318557:K297N	ENSP00000318557:K297N	K	-	3	2	SLC12A4	66543614	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.288000	0.33296	2.463000	0.83235	0.585000	0.79938	AAG	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.498	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	protein_coding	OTTHUMT00000268864.4	C	NM_005072	-		67986113	-1	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	SNP	1.000	G	G	67986113	C	G	67986113	3	3	211	1	0	0	0	0	1	0	0	0	14393	564	20	4	2438	4	SLC12A4	16	67986113	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09	64692604	67986113	22368640	44	17310											
USP6	9098	genome.wustl.edu	37	chr17	5058807	5058807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgcactgtgcataccCggaagaaagacctatatgat	8	10	0	3	rs148034086		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr17:5058807C>T	ENST00000574788.1	+	31	4964	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R595W|USP6_ENST00000250066.6_Missense_Mutation_p.R912W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	912	USP.		R -> Q (in dbSNP:rs9899177). {ECO:0000269|PubMed:1565468}.		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						TGTGCATACCCGGAAGAAAGA	0.483			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0								ENSG00000129204	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	182	157	165		2734	2.9	1	17	dbSNP_134	165	0,8600		0,0,4300	no	missense	USP6	NM_004505.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	912/1407	5058807	1,13005	2203	4300	6503	USP6	SO:0001583	missense	0			-	HGNC	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.2734C>T	17.37:g.5058807C>T	ENSP00000460380:p.Arg912Trp	Somatic	0	119	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	90	11.76	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.R912W	ENST00000574788.1	37	c.2734	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317223	0.60524	2.27E-4	0.0	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14266	2.92;2.52	2.91	2.91	0.33838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.099183	0.64402	D	0.000002	T	0.29684	0.0741	M	0.68952	2.095	0.37984	D	0.933683	D;D	0.89917	1.0;1.0	D;D	0.75484	0.971;0.986	T	0.10989	-1.0606	10	0.66056	D	0.02	.	7.3281	0.26567	0.2619:0.7381:0.0:0.0	.	595;912	P35125-2;P35125	.;UBP6_HUMAN	W	912;595	ENSP00000250066:R912W;ENSP00000305473:R595W	ENSP00000250066:R912W	R	+	1	2	USP6	4999531	0.999000	0.42202	1.000000	0.80357	0.938000	0.57974	3.542000	0.53625	1.614000	0.50241	0.398000	0.26397	CGG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.483	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	protein_coding	OTTHUMT00000438990.1	C	NM_004505	rs148034086		5058807	1	no_errors	ENST00000250066	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5058807	C	T	5058807	3	4	211	1	0	0	0	0	1	0	0	0	17093	643	23	1	2820	1	USP6	17	5058807	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09		5058807	76136403	45	17311											
LPO	4025	genome.wustl.edu	37	chr17	56342328	56342328	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaacacttggaggatggtCaaagatggtatgccctttca	10	8	3	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr17:56342328C>T	ENST00000262290.4	+	10	1828	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	LPO_ENST00000421678.2_Silent_p.V421V|LPO_ENST00000582328.1_Silent_p.V421V|LPO_ENST00000543544.1_Silent_p.V445V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	504					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGGATGGTCAAAGATGGTA	0.527																																																	0								ENSG00000167419						87	70	75					17																	56342328		2203	4300	6503	LPO	SO:0001819	synonymous_variant	0			-	HGNC	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1512C>T	17.37:g.56342328C>T		Somatic	0	78	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	78	9.30	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.V504	ENST00000262290.4	37	c.1512	CCDS32689.1	17																																																																																			-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	protein_coding	OTTHUMT00000443961.1	C		-		56342328	1	no_errors	ENST00000262290	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56342328	C	T	56342328	2	4	211	1	0	0	0	0	0	0	0	1	8924	813	29	2		2	LPO	17	56342328	Silent	SNP	C	TCGA-SG-A849-01A-11D-A351-09	51283521	56342328	24852882	46	17312											
DNMT1	1786	genome.wustl.edu	37	chr19	10251834	10251834	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacgggcatggttgggaggaTcttcaaagcttttgctcttt	12	7	3	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:10251834T>A	ENST00000340748.4	-	30	3528	c.3293A>T	c.(3292-3294)gAt>gTt	p.D1098V	DNMT1_ENST00000540357.1_Missense_Mutation_p.D1098V|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.D1114V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1098	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)	GTTGGGAGGATCTTCAAAGCT	0.448																																																	0								ENSG00000130816						178	168	171					19																	10251834		2203	4300	6503	DNMT1	SO:0001583	missense	0			-	HGNC	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.3293A>T	19.37:g.10251834T>A	ENSP00000345739:p.Asp1098Val	Somatic	0	45	0		0.366510328418816	156	20.81	41	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP							pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.D1114V	ENST00000340748.4	37	c.3341	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794646	0.90453	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.86164	-2.08;-2.08;-2.08	5.6	5.6	0.85130	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	M	0.70275	2.135	0.80722	D	1	P;P;P	0.46395	0.851;0.712;0.877	P;B;P	0.51742	0.55;0.395;0.678	D	0.89874	0.4025	10	0.42905	T	0.14	.	14.7486	0.69508	0.0:0.0:0.0:1.0	.	1098;1114;1098	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	V	1114;1098;1098;966	ENSP00000352516:D1114V;ENSP00000440457:D1098V;ENSP00000345739:D1098V	ENSP00000345739:D1098V	D	-	2	0	DNMT1	10112834	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.930000	0.87610	2.136000	0.66102	0.533000	0.62120	GAT	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.448	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	protein_coding	OTTHUMT00000451166.1	T	NM_001379	-		10251834	-1	no_errors	ENST00000359526	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10251834	T	A	10251834	3	1	211	1	0	0	0	0	1	0	0	0	4677	1435	50	5	1601	5	DNMT1	19	10251834	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09		10251834	48877149	47	17313											
FARSA	2193	genome.wustl.edu	37	chr19	13041116	13041116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtcccccccggaccaGctggagccgccgctgcacct	11	20	0	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:13041116G>T	ENST00000314606.4	-	4	442	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	FARSA_ENST00000588025.1_Missense_Mutation_p.L182M|FARSA_ENST00000423140.2_Missense_Mutation_p.L142M|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	142					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCCCGGACCAGCTGGAGCCGC	0.652																																																	0								ENSG00000179115						75	64	68					19																	13041116		2203	4300	6503	FARSA	SO:0001583	missense	0			-	HGNC	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.424C>A	19.37:g.13041116G>T	ENSP00000320309:p.Leu142Met	Somatic	0	38	0		0.366510328418816	256	0.39	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP							pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.L142M	ENST00000314606.4	37	c.424	CCDS12287.1	19	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949831	0.34377	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64803	-0.12;0.5	5.66	1.07	0.20283	.	0.235944	0.36066	N	0.002816	T	0.54013	0.1832	M	0.66939	2.045	0.44531	D	0.997487	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.49466	-0.8937	10	0.46703	T	0.11	-4.4226	6.9893	0.24745	0.2005:0.0:0.6784:0.1211	.	142;142;142	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	M	142	ENSP00000320309:L142M;ENSP00000396548:L142M	ENSP00000320309:L142M	L	-	1	2	FARSA	12902116	1.000000	0.71417	0.450000	0.26969	0.800000	0.45204	1.920000	0.40025	0.342000	0.23796	-0.261000	0.10672	CTG	-	NULL		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	protein_coding	OTTHUMT00000451935.1	G	NM_004461	-		13041116	-1	no_errors	ENST00000314606	ensembl	human	known	74_37	missense	SNP	0.984	T	T	13041116	G	T	13041116	3	4	211	1	0	0	0	0	1	0	0	0	5681	962	34	3	1142	3	FARSA	19	13041116	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	2789282	13041116	46087867	48	17314											
IL12RB1	3594	genome.wustl.edu	37	chr19	18186635	18186635	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgccgtcgtcggagctgGaattcctgggccacattcat	12	12	1	0			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:18186635G>A	ENST00000600835.2	-	8	922	c.624C>T	c.(622-624)ttC>ttT	p.F208F	IL12RB1_ENST00000322153.7_Silent_p.F208F|IL12RB1_ENST00000593993.2_Silent_p.F208F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	208	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCGGAGCTGGAATTCCTGGG	0.597																																																	0								ENSG00000096996						58	63	61					19																	18186635		2203	4300	6503	IL12RB1	SO:0001819	synonymous_variant	0			-	HGNC	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.624C>T	19.37:g.18186635G>A		Somatic	0	106	0		0.366510328418816	69	4.17	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	97	12.61	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP							pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.F208	ENST00000600835.2	37	c.624	CCDS54232.1	19																																																																																			-	superfamily_Fibronectin_type3		0.597	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	G		-		18186635	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	silent	SNP	0.247	A	A	18186635	G	A	18186635	2	1	211	1	0	0	0	0	0	0	0	1	7628	1165	41	2		2	IL12RB1	19	18186635	Silent	SNP	G	TCGA-SG-A849-01A-11D-A351-09	5145519	18186635	40942348	49	17315											
ZNF677	342926	genome.wustl.edu	37	chr19	53741760	53741760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtataattcctcttTattattttcctttggtgata	6	6	1	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:53741760T>C	ENST00000598513.1	-	5	370	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.K74E	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	74	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)|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)		AATTCCTCTTTATTATTTTCC	0.343																																																	0								ENSG00000197928						43	43	43					19																	53741760		2200	4269	6469	ZNF677	SO:0001583	missense	0			-	HGNC	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.220A>G	19.37:g.53741760T>C	ENSP00000469391:p.Lys74Glu	Somatic	0	33	0		0.366510328418816	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K74E	ENST00000598513.1	37	c.220	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754721	0.31046	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07327	3.2	2.29	1.23	0.21249	Krueppel-associated box (1);	0.275854	0.20181	N	0.097528	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.45818	-0.9235	10	0.06891	T	0.86	.	5.0722	0.14613	0.4957:0.0:0.0:0.5042	.	74	Q86XU0	ZN677_HUMAN	E	74	ENSP00000334394:K74E	ENSP00000334394:K74E	K	-	1	0	ZNF677	58433572	0.000000	0.05858	0.058000	0.19502	0.046000	0.14306	-0.886000	0.04157	0.294000	0.22547	0.533000	0.62120	AAA	-	pfscan_Krueppel-associated_box		0.343	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	protein_coding	OTTHUMT00000464189.1	T	NM_182609	-		53741760	-1	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	SNP	0.012	C	C	53741760	T	C	53741760	3	2	211	1	0	0	0	0	1	0	0	0	18091	1763	61	5	1538	5	ZNF677	19	53741760	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	35555125	53741760	5387223	50	17316											
TPX2	22974	genome.wustl.edu	37	chr20	30371630	30371630	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatttggaaattgagaaaaGaatccaggagcgagaatcaa	11	4	1	4			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:30371630G>T	ENST00000300403.6	+	12	1847	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	TPX2_ENST00000340513.4_Missense_Mutation_p.R476I	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	440					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATTGAGAAAAGAATCCAGGAG	0.438																																																	0								ENSG00000088325						120	120	120					20																	30371630		2203	4300	6503	TPX2	SO:0001583	missense	0			-	HGNC	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1319G>T	20.37:g.30371630G>T	ENSP00000300403:p.Arg440Ile	Somatic	0	129	0		0.366510328418816	222	23.45	68	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	106	12.40	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP							pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.R476I	ENST00000300403.6	37	c.1427	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645135	0.87859	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.46063	0.88	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77482	-0.2571	10	0.72032	D	0.01	-15.2574	15.6553	0.77129	0.0:0.1374:0.8626:0.0	.	476;440	Q96RR5;Q9ULW0	.;TPX2_HUMAN	I	440;476	ENSP00000341145:R476I	ENSP00000300403:R440I	R	+	2	0	TPX2	29835291	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	8.510000	0.90532	1.366000	0.46076	0.650000	0.86243	AGA	-	pfam_TPX2_central_dom		0.438	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	protein_coding	OTTHUMT00000078569.2	G		-		30371630	1	no_errors	ENST00000340513	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30371630	G	T	30371630	3	4	211	1	0	0	0	0	1	0	0	0	16439	942	33	3	1357	3	TPX2	20	30371630	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09		30371630	32653890	51	17317											
FAM65C	140876	genome.wustl.edu	37	chr20	49211978	49211978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctccagaacgtgcttttGctgtgccacttcttccagga	9	12	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:49211978G>T	ENST00000327979.2	-	16	2377	c.1966C>A	c.(1966-1968)Caa>Aaa	p.Q656K	FAM65C_ENST00000045083.2_Missense_Mutation_p.Q656K|FAM65C_ENST00000535356.1_Missense_Mutation_p.Q660K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	656										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTGCTTTTGCTGTGCCACT	0.522																																																	0								ENSG00000042062						120	122	121					20																	49211978		2028	4183	6211	FAM65C	SO:0001583	missense	0			-	HGNC	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1966C>A	20.37:g.49211978G>T	ENSP00000332663:p.Gln656Lys	Somatic	0	57	0		0.366510328418816	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP							superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.Q660K	ENST00000327979.2	37	c.1978	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150493	0.57151	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	D;D;D	0.82526	-1.62;-1.62;-1.62	5.17	5.17	0.71159	.	0.000000	0.64402	U	0.000005	D	0.90776	0.7104	M	0.72894	2.215	0.54753	D	0.999983	D;D	0.89917	1.0;0.998	D;D	0.85130	0.995;0.997	D	0.91474	0.5199	10	0.72032	D	0.01	-10.3443	18.6183	0.91312	0.0:0.0:1.0:0.0	.	660;656	F5H0X2;Q96MK2	.;FA65C_HUMAN	K	656;656;660	ENSP00000332663:Q656K;ENSP00000045083:Q656K;ENSP00000439802:Q660K	ENSP00000045083:Q656K	Q	-	1	0	FAM65C	48645385	1.000000	0.71417	0.941000	0.38009	0.062000	0.15995	5.930000	0.70104	2.580000	0.87095	0.561000	0.74099	CAA	-	NULL		0.522	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	protein_coding	OTTHUMT00000257962.1	G		-		49211978	-1	no_errors	ENST00000535356	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49211978	G	T	49211978	3	4	211	1	0	0	0	0	1	0	0	0	5603	1328	46	3	902	3	FAM65C	20	49211978	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	18840348	49211978	13813542	52	17318											
MC3R	4159	genome.wustl.edu	37	chr20	54824448	54824448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgttcatcgtctactcGgagagcaaaatggtcattgt	12	7	3	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:54824448G>A	ENST00000243911.2	+	1	661	c.549G>A	c.(547-549)tcG>tcA	p.S183S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	183					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCGTCTACTCGGAGAGCAAAA	0.572																																																	0								ENSG00000124089						216	191	200					20																	54824448		2203	4300	6503	MC3R	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.549G>A	20.37:g.54824448G>A		Somatic	0	27	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	Q4KN27|Q9H517	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.S183	ENST00000243911.2	37	c.549	CCDS13449.2	20																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt		0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	protein_coding	OTTHUMT00000079786.2	G		-		54824448	1	no_errors	ENST00000243911	ensembl	human	known	74_37	silent	SNP	0.312	A	A	54824448	G	A	54824448	2	1	211	1	0	0	0	0	0	0	0	1	9367	1103	39	1		1	MC3R	20	54824448	Silent	SNP	G	TCGA-SG-A849-01A-11D-A351-09	5612470	54824448	8201072	53	17319											
RTEL1	51750	genome.wustl.edu	37	chr20	62320973	62320973	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagttcctggatgagaTgaagggccagggtggggctg	19	6	0	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:62320973T>G	ENST00000360203.5	+	23	2322	c.1997T>G	c.(1996-1998)aTg>aGg	p.M666R	RTEL1_ENST00000318100.4_Missense_Mutation_p.M666R|RTEL1_ENST00000508582.2_Missense_Mutation_p.M690R|RTEL1_ENST00000370018.3_Missense_Mutation_p.M666R|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.M666R|RTEL1_ENST00000370003.1_5'Flank					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGATGAGATGAAGGGCCAG	0.657																																																	0								ENSG00000258366						31	36	34					20																	62320973		2197	4290	6487	RTEL1	SO:0001583	missense	0			-	HGNC	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1997T>G	20.37:g.62320973T>G	ENSP00000353332:p.Met666Arg	Somatic	0	76	0		0.366510328418816	28	6.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	79	13.19		Missense_Mutation	SNP							pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.M666R	ENST00000360203.5	37	c.1997		20	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588130	0.46110	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	4.46	4.46	0.54185	Helicase, ATP-dependent, c2 type (1);	0.173963	0.64402	D	0.000009	D	0.87935	0.6303	N	0.20845	0.615	0.49582	D	0.999805	P;B;B	0.52170	0.951;0.205;0.01	P;B;B	0.53809	0.735;0.102;0.037	D	0.86803	0.1993	10	0.30854	T	0.27	-21.6642	13.8302	0.63375	0.0:0.0:0.0:1.0	.	690;666;666	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	R	666;666;690;666	ENSP00000359035:M666R;ENSP00000322287:M666R;ENSP00000424307:M690R;ENSP00000353332:M666R	ENSP00000353332:M666R	M	+	2	0	AL353715.1	61791417	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	5.625000	0.67770	2.001000	0.58596	0.460000	0.39030	ATG	-	superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.657	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	protein_coding	OTTHUMT00000289781.1	T	NM_032957	-		62320973	1	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62320973	T	G	62320973	3	3	211	1	0	0	0	0	1	0	0	0	13728	1464	51	5	2083	5	RTEL1	20	62320973	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09	7496525	62320973	704547	54	17320											
GRIK1	2897	genome.wustl.edu	37	chr21	30927609	30927609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatagcaatagtaattttatCccggtaaggagaacctggaa	9	6	0	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr21:30927609C>T	ENST00000399907.1	-	16	2782	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	GRIK1_ENST00000309434.7_Missense_Mutation_p.D793N|GRIK1_ENST00000399914.1_Missense_Mutation_p.D776N|GRIK1_ENST00000327783.4_Missense_Mutation_p.D791N|GRIK1_ENST00000389125.3_Missense_Mutation_p.D776N|GRIK1_ENST00000399913.1_Missense_Mutation_p.D791N|GRIK1_ENST00000535441.1_Missense_Mutation_p.D793N|GRIK1_ENST00000389124.2_Missense_Mutation_p.D791N|GRIK1_ENST00000399909.1_Missense_Mutation_p.D776N	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	791					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTAATTTTATCCCGGTAAGGA	0.408																																																	0								ENSG00000171189						76	79	78					21																	30927609		2203	4299	6502	GRIK1	SO:0001583	missense	0			-	HGNC		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2371G>A	21.37:g.30927609C>T	ENSP00000382791:p.Asp791Asn	Somatic	0	46	0		0.366510328418816	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	Q13001|Q86SU9	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D793N	ENST00000399907.1	37	c.2377	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873492	0.91664	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.78	4.78	0.61160	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.80616	2.505	0.80722	D	1	P;P;P;P	0.52316	0.905;0.952;0.944;0.941	P;P;P;P	0.55713	0.782;0.685;0.782;0.558	T	0.05767	-1.0865	10	0.25751	T	0.34	.	17.9518	0.89056	0.0:1.0:0.0:0.0	.	776;791;791;776	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	N	791;776;791;776;793;652;791;791;776;793	ENSP00000327687:D791N;ENSP00000373777:D776N;ENSP00000382797:D791N;ENSP00000382798:D776N;ENSP00000446326:D793N;ENSP00000373776:D791N;ENSP00000382791:D791N;ENSP00000382793:D776N;ENSP00000311646:D793N	ENSP00000311646:D793N	D	-	1	0	GRIK1	29849480	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.548000	0.82154	2.629000	0.89072	0.650000	0.86243	GAT	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	protein_coding	OTTHUMT00000171979.1	C		-		30927609	-1	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30927609	C	T	30927609	3	4	211	1	0	0	0	0	1	0	0	0	6775	855	30	2	553	2	GRIK1	21	30927609	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09		30927609	17202286	55	17321											
COL18A1	80781	genome.wustl.edu	37	chr21	46923945	46923945	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcagtttccgtttgactttCttcagttggaggctgaaatg	12	7	2	2	rs565276532|rs371849586	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr21:46923945C>T	ENST00000359759.4	+	32	3970	c.3949C>T	c.(3949-3951)Ctt>Ttt	p.L1317F	COL18A1_ENST00000355480.5_Missense_Mutation_p.L1082F|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.L902F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1317	Nonhelical region 8 (NC8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GTTTGACTTTCTTCAGTTGGA	0.617																																																	0								ENSG00000182871						85	92	90					21																	46923945		1949	4143	6092	COL18A1	SO:0001583	missense	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3949C>T	21.37:g.46923945C>T	ENSP00000352798:p.Leu1317Phe	Somatic	0	106	0		0.366510328418816	189	21.58	52	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	48	12.73	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP							pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.L1317F	ENST00000359759.4	37	c.3949		21	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324465	0.10900	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.93426	-2.79;-2.79;-2.67;-3.22	3.85	-0.633	0.11519	.	0.756424	0.12344	N	0.477162	D	0.83912	0.5357	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.005;0.008;0.008	B;B;B	0.11329	0.003;0.006;0.006	T	0.70252	-0.4923	10	0.32370	T	0.25	.	2.7517	0.05282	0.2072:0.4247:0.0:0.3681	.	1317;1082;902	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	F	902;902;1082;1317;1317;249	ENSP00000383191:L902F;ENSP00000347665:L1082F;ENSP00000352798:L1317F;ENSP00000339118:L249F	ENSP00000339118:L249F	L	+	1	0	COL18A1	45748373	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.479000	0.06567	0.044000	0.15775	0.655000	0.94253	CTT	-	NULL		0.617	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	C		-		46923945	1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	SNP	0.000	T	T	46923945	C	T	46923945	3	4	211	1	0	0	0	0	1	0	0	0	3677	913	32	2	4189	2	COL18A1	21	46923945	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09	15996336	46923945	1205950	56	17322											
CLTCL1	8218	genome.wustl.edu	37	chr22	19208953	19208953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataggcaacacaggccagatGggggtctcgcttctcacagt	12	11	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr22:19208953G>C	ENST00000263200.10	-	17	2815	c.2743C>G	c.(2743-2745)Cat>Gat	p.H915D	CLTCL1_ENST00000427926.1_Missense_Mutation_p.H915D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.H915D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	915	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAGGCCAGATGGGGGTCTCGC	0.577			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0								ENSG00000070371						29	30	30					22																	19208953		2064	4221	6285	CLTCL1	SO:0001583	missense	0			-	HGNC		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2743C>G	22.37:g.19208953G>C	ENSP00000445677:p.His915Asp	Somatic	0	50	0		0.366510328418816	1	85.71	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP							pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.H915D	ENST00000263200.10	37	c.2743	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040133	0.75732	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19938	2.11;2.11;2.11	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	M	0.87682	2.9	0.80722	D	1	D;D	0.76494	0.976;0.999	D;D	0.91635	0.927;0.999	T	0.63497	-0.6624	10	0.72032	D	0.01	-11.7766	15.1756	0.72907	0.0:0.0:1.0:0.0	.	915;915	P53675-2;P53675	.;CLH2_HUMAN	D	915	ENSP00000439662:H915D;ENSP00000445677:H915D;ENSP00000441158:H915D	ENSP00000445677:H915D	H	-	1	0	CLTCL1	17588953	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	6.913000	0.75759	1.813000	0.52934	0.313000	0.20887	CAT	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.577	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	protein_coding	OTTHUMT00000316397.5	G	NM_007098	-		19208953	-1	no_errors	ENST00000263200	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19208953	G	C	19208953	3	2	211	1	0	0	0	0	1	0	0	0	3569	1348	47	4	2243	4	CLTCL1	22	19208953	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09		19208953	32095613	57	17323											
GRAP2	9402	genome.wustl.edu	37	chr22	40362092	40362092	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atccctaaataagctggtagActactacaggacaaattcca	6	10	0	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr22:40362092A>T	ENST00000344138.4	+	5	652	c.389A>T	c.(388-390)gAc>gTc	p.D130V	RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000407075.3_Missense_Mutation_p.D130V|GRAP2_ENST00000540310.1_Missense_Mutation_p.D64V|GRAP2_ENST00000543252.1_Missense_Mutation_p.D90V|GRAP2_ENST00000544756.1_Missense_Mutation_p.D58V|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_3'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	130	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AAGCTGGTAGACTACTACAGG	0.463																																																	0								ENSG00000100351						121	103	109					22																	40362092		2203	4300	6503	GRAP2	SO:0001583	missense	0			-	HGNC	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.389A>T	22.37:g.40362092A>T	ENSP00000339186:p.Asp130Val	Somatic	0	85	0		0.366510328418816	15	11.76	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	74	11.90	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP							pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.D130V	ENST00000344138.4	37	c.389	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	A	33	5.215817	0.95104	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000407075	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	6.03	6.03	0.97812	SH2 motif (5);	0.277631	0.44483	D	0.000446	D	0.94009	0.8081	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.67145	0.982;0.996;0.991;0.982	P;D;D;P	0.65010	0.88;0.931;0.93;0.88	D	0.94549	0.7752	10	0.87932	D	0	-46.4399	16.5582	0.84512	1.0:0.0:0.0:0.0	.	130;64;104;130	Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;GRAP2_HUMAN	V	130;90;104;64;58;130	ENSP00000339186:D130V;ENSP00000446350:D90V;ENSP00000444734:D64V;ENSP00000442195:D58V;ENSP00000385607:D130V	ENSP00000339186:D130V	D	+	2	0	GRAP2	38692038	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.308000	0.77769	0.533000	0.62120	GAC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.463	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	protein_coding	OTTHUMT00000321295.1	A	NM_004810	-		40362092	1	no_errors	ENST00000344138	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40362092	A	T	40362092	3	4	211	1	0	0	0	0	1	0	0	0	6756	275	10	5	403	5	GRAP2	22	40362092	Missense_Mutation	SNP	A	TCGA-SG-A849-01A-11D-A351-09	21153139	40362092	10942474	58	17324											
KLHDC7B	113730	genome.wustl.edu	37	chr22	50988102	50988102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcttcgacctgctgcggGgcgtgggcgccgccgtgatg	17	14	0	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr22:50988102G>A	ENST00000395676.2	+	1	1641	c.1507G>A	c.(1507-1509)Ggc>Agc	p.G503S	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	503								p.G404S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGCTGCGGGGCGTGGGCGC	0.697																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000130487						35	40	39					22																	50988102		2200	4289	6489	KLHDC7B	SO:0001583	missense	0			-	HGNC	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1507G>A	22.37:g.50988102G>A	ENSP00000379034:p.Gly503Ser	Somatic	0	91	0		0.366510328418816	66	21.43	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64		Missense_Mutation	SNP							pfam_Kelch_1,smart_Kelch_1	p.G503S	ENST00000395676.2	37	c.1507	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	9.051	0.992081	0.18966	.	.	ENSG00000130487	ENST00000395676	T	0.10005	2.92	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.42420	U	0.000717	T	0.11665	0.0284	L	0.37850	1.14	0.38186	D	0.939773	B	0.24823	0.112	B	0.24974	0.057	T	0.08680	-1.0710	10	0.42905	T	0.14	.	16.5472	0.84450	0.0:0.0:1.0:0.0	.	503	Q96G42	KLD7B_HUMAN	S	503	ENSP00000379034:G503S	ENSP00000379034:G503S	G	+	1	0	KLHDC7B	49334968	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	4.540000	0.60664	2.528000	0.85240	0.491000	0.48974	GGC	-	NULL		0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	protein_coding	OTTHUMT00000317089.2	G	NM_138433	-		50988102	1	no_errors	ENST00000395676	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50988102	G	A	50988102	3	1	211	1	0	0	0	0	1	0	0	0	8363	1232	43	2	1509	2	KLHDC7B	22	50988102	Missense_Mutation	SNP	G	TCGA-SG-A849-01A-11D-A351-09	10626010	50988102	316464	59	17325											
CSF2RA	1438	genome.wustl.edu	37	chrX	1419414	1419414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgatttggaaaatagaTacaactttccaagctctgag	9	7	1	3			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:1419414T>C	ENST00000381524.3	+	10	1027	c.841T>C	c.(841-843)Tac>Cac	p.Y281H	CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y281H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y281H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y281H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y281H|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y148H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y281H|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y281H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y281H|CSF2RA_ENST00000494969.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	281	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GGAAAATAGATACAACTTTCC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0								ENSG00000198223						119	121	120					X																	1419414		2203	4296	6499	CSF2RA	SO:0001583	missense	0			-	HGNC	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.841T>C	X.37:g.1419414T>C	ENSP00000370935:p.Tyr281His	Somatic	0	339	0		0.366510328418816	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	236	9.23	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.Y281H	ENST00000381524.3	37	c.841	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	5.882	0.346959	0.11126	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	0.798	0.798	0.18660	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000117	D	0.85336	0.5673	.	.	.	0.09310	N	1	P;P;P;P;P	0.51653	0.455;0.89;0.947;0.759;0.8	B;B;P;B;B	0.52554	0.232;0.425;0.702;0.256;0.284	T	0.75651	-0.3244	9	0.52906	T	0.07	.	3.8498	0.08949	0.0:0.0:0.0:1.0	.	281;281;281;281;281	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	281;281;281;148;281;281;281;281;281	ENSP00000370940:Y281H;ENSP00000416437:Y281H;ENSP00000354836:Y281H;ENSP00000440491:Y148H;ENSP00000370935:Y281H;ENSP00000370920:Y281H;ENSP00000347606:Y281H;ENSP00000394227:Y281H;ENSP00000370911:Y281H	ENSP00000347606:Y281H	Y	+	1	0	CSF2RA	1379414	0.002000	0.14202	0.009000	0.14445	0.177000	0.22998	0.121000	0.15667	0.615000	0.30124	0.084000	0.15446	TAC	-	superfamily_Fibronectin_type3		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	protein_coding	OTTHUMT00000035013.2	T		-		1419414	1	no_errors	ENST00000417535	ensembl	human	known	74_37	missense	SNP	0.010	C	C	1419414	T	C	1419414	3	2	211	1	0	0	0	0	1	0	0	0	3936	1406	49	5	871	5	CSF2RA	23	1419414	Missense_Mutation	SNP	T	TCGA-SG-A849-01A-11D-A351-09		1419414	153851146	60	17326											
ZFX	7543	genome.wustl.edu	37	chrX	24197842	24197842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggatccctgtggaccagCaggatgatgacaaaggcaac	13	9	0	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:24197842C>A	ENST00000379177.1	+	6	1028	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	ZFX_ENST00000539115.1_Intron|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.Q240K|ZFX_ENST00000304543.5_Missense_Mutation_p.Q201K|ZFX_ENST00000338565.3_Missense_Mutation_p.Q201K|ZFX_ENST00000379188.3_Missense_Mutation_p.Q201K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	201					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGTGGACCAGCAGGATGATGA	0.468																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0								ENSG00000005889						152	145	147					X																	24197842		2203	4300	6503	ZFX	SO:0001583	missense	0			-	HGNC		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.601C>A	X.37:g.24197842C>A	ENSP00000368475:p.Gln201Lys	Somatic	0	43	0		0.366510328418816	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP							pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q240K	ENST00000379177.1	37	c.718	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842957	0.32606	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.52	5.52	0.82312	Transcriptional activator, Zfx / Zfy domain (1);	0.214441	0.32473	N	0.006053	T	0.34308	0.0893	L	0.46157	1.445	0.80722	D	1	B;P;B;P	0.38827	0.12;0.649;0.007;0.507	B;B;B;B	0.36567	0.076;0.228;0.016;0.119	T	0.12142	-1.0559	9	.	.	.	-0.4742	10.0257	0.42070	0.153:0.702:0.145:0.0	.	240;201;201;205	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	201;201;201;201;240;201	ENSP00000368486:Q201K;ENSP00000368475:Q201K;ENSP00000304985:Q201K;ENSP00000441382:Q240K;ENSP00000343384:Q201K	.	Q	+	1	0	ZFX	24107763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.471000	0.45127	2.320000	0.78422	0.600000	0.82982	CAG	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.468	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	protein_coding	OTTHUMT00000056084.1	C	NM_003410	-		24197842	1	no_errors	ENST00000540034	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24197842	C	A	24197842	3	1	211	1	0	0	0	0	1	0	0	0	17668	711	25	3	607	3	ZFX	23	24197842	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09	22778428	24197842	131072718	61	17327											
F9	2158	genome.wustl.edu	37	chrX	138612959	138612959	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatcatggcagaatcaccAggcctcatcaccatctgcct	7	14	5	2			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:138612959A>G	ENST00000218099.2	+	1	43	c.36A>G	c.(34-36)ccA>ccG	p.P12P	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Silent_p.P12P	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	12					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CAGAATCACCAGGCCTCATCA	0.408																																																	0								ENSG00000101981						287	231	250					X																	138612959		2203	4300	6503	F9	SO:0001819	synonymous_variant	0			-	HGNC	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.36A>G	X.37:g.138612959A>G		Somatic	0	28	0		0.366510328418816	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP							pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain	p.P12	ENST00000218099.2	37	c.36	CCDS14666.1	X																																																																																			-	pirsf_Pept_S1A_FX		0.408	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	protein_coding	OTTHUMT00000058557.1	A		-		138612959	1	no_errors	ENST00000218099	ensembl	human	known	74_37	silent	SNP	0.001	G	G	138612959	A	G	138612959	2	3	211	1	0	0	0	0	0	0	0	1	5353	175	7	5		5	F9	23	138612959	Silent	SNP	A	TCGA-SG-A849-01A-11D-A351-09	114415117	138612959	16657601	62	17328											
VAMP7	6845	genome.wustl.edu	37	chrX	155119268	155119268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataacaaactaacgtactcaCatggcaagtgagttctgttc	7	9	2	1			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:155119268C>A	ENST00000286448.6	+	2	304	c.139C>A	c.(139-141)Cat>Aat	p.H47N	VAMP7_ENST00000262640.6_Missense_Mutation_p.H47N|VAMP7_ENST00000460621.1_Intron|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	47	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	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)					AACGTACTCACATGGCAAGTG	0.418																																																	0								ENSG00000124333						204	191	195					X																	155119268		2203	4296	6499	VAMP7	SO:0001583	missense	0			-	HGNC	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.139C>A	X.37:g.155119268C>A	ENSP00000286448:p.His47Asn	Somatic	0	314	0		0.366510328418816	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	145	21.20	Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP							superfamily_Longin-like_dom,pfscan_Longin_dom	p.H47N	ENST00000286448.6	37	c.139	CCDS14770.4	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715076	0.48622	.	.	ENSG00000124333	ENST00000286448;ENST00000262640	T;T	0.23950	1.88;1.88	2.83	2.83	0.33086	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	.	.	.	0.09310	N	1	P;D	0.67145	0.904;0.996	P;D	0.72982	0.766;0.979	T	0.09185	-1.0686	9	0.34782	T	0.22	.	10.9779	0.47478	0.0:1.0:0.0:0.0	.	47;47	P51809-2;P51809	.;VAMP7_HUMAN	N	47	ENSP00000286448:H47N;ENSP00000262640:H47N	ENSP00000262640:H47N	H	+	1	0	VAMP7	154772462	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.648000	0.83479	1.712000	0.51347	0.287000	0.19450	CAT	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.418	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP7	protein_coding	OTTHUMT00000058843.1	C	NM_005638	-		155119268	1	no_errors	ENST00000262640	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155119268	C	A	155119268	3	1	211	1	0	0	0	0	1	0	0	0	17124	478	17	3	141	3	VAMP7	23	155119268	Missense_Mutation	SNP	C	TCGA-SG-A849-01A-11D-A351-09	16506309	155119268	151292	63	17329											
FAM159A	348378	genome.wustl.edu	37	chr1	53099179	53099179	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcgatgagcggcgcctGcacgagctacgtgagcgcag	18	12	0	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr1:53099179G>C	ENST00000517870.1	+	1	164	c.14G>C	c.(13-15)tGc>tCc	p.C5S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	5						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCGGCGCCTGCACGAGCTAC	0.771																																																	0								ENSG00000182183						6	7	6					1																	53099179		1811	3938	5749	FAM159A	SO:0001583	missense	0			-	HGNC		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.14G>C	1.37:g.53099179G>C	ENSP00000429726:p.Cys5Ser	Somatic	0	13	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	Q6ZRG4	Missense_Mutation	SNP							NULL	p.C5S	ENST00000517870.1	37	c.14	CCDS41336.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756636	0.89843	.	.	ENSG00000182183	ENST00000517870	.	.	.	3.44	3.44	0.39384	.	0.000000	0.64402	U	0.000003	T	0.75317	0.3833	L	0.59436	1.845	0.46203	D	0.998924	D	0.76494	0.999	D	0.83275	0.996	T	0.79736	-0.1678	9	0.87932	D	0	.	15.773	0.78187	0.0:0.0:1.0:0.0	.	5	Q6UWV7	F159A_HUMAN	S	5	.	ENSP00000429726:C5S	C	+	2	0	FAM159A	52871767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.602000	0.90868	1.860000	0.53959	0.455000	0.32223	TGC	-	NULL		0.771	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM159A	protein_coding	OTTHUMT00000022934.2	G	NM_001042693	-		53099179	1	no_errors	ENST00000517870	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53099179	G	C	53099179	3	2	212	1	0	0	0	0	1	0	0	0	5470	1319	46	4	16	4	FAM159A	1	53099179	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		53099179	196151442	1	17330											
DAB1	1600	genome.wustl.edu	37	chr1	57476849	57476849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcttttgctgggacttTcaaagccctcttcaaagatg	8	11	3	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr1:57476849T>C	ENST00000371231.1	-	14	1674	c.1640A>G	c.(1639-1641)gAa>gGa	p.E547G	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.E512G|DAB1_ENST00000371234.4_Missense_Mutation_p.E514G|DAB1_ENST00000371236.2_Missense_Mutation_p.E514G|DAB1_ENST00000439789.2_Missense_Mutation_p.E428G|DAB1_ENST00000414851.2_Missense_Mutation_p.E496G			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	547					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTGGGACTTTCAAAGCCCTC	0.438																																																	0								ENSG00000173406						135	137	136					1																	57476849		2203	4300	6503	DAB1	SO:0001583	missense	0			-	HGNC	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1640A>G	1.37:g.57476849T>C	ENSP00000360275:p.Glu547Gly	Somatic	0	45	0		0.555890421609159	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP							pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.E547G	ENST00000371231.1	37	c.1640		1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473270	0.26423	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.42131	0.99;0.99;0.98;0.98;2.0;0.98	4.96	4.96	0.65561	.	0.152990	0.64402	D	0.000015	T	0.22475	0.0542	N	0.05441	-0.05	0.47441	D	0.999421	B;B;B;B;B	0.14805	0.011;0.002;0.004;0.003;0.006	B;B;B;B;B	0.18263	0.006;0.009;0.009;0.004;0.021	T	0.08764	-1.0706	10	0.07325	T	0.83	-47.9219	15.0778	0.72090	0.0:0.0:0.0:1.0	.	496;547;514;428;512	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	G	514;514;514;512;496;428;547	ENSP00000360280:E514G;ENSP00000360278:E514G;ENSP00000395296:E512G;ENSP00000387581:E496G;ENSP00000409328:E428G;ENSP00000360275:E547G	ENSP00000360275:E547G	E	-	2	0	DAB1	57249437	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.112000	0.57845	2.199000	0.70637	0.454000	0.30748	GAA	-	NULL		0.438	DAB1-010	KNOWN	basic	protein_coding	DAB1	protein_coding	OTTHUMT00000027962.1	T	NM_021080	-		57476849	-1	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57476849	T	C	57476849	3	2	212	1	0	0	0	0	1	0	0	0	4219	1783	62	5	134	5	DAB1	1	57476849	Missense_Mutation	SNP	T	TCGA-SI-A71O-01A-12D-A33E-09	4377670	57476849	191773772	2	17331											
LOR	4014	genome.wustl.edu	37	chr1	153234265	153234265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggttcctctggaggcggCggcggcggctcctccgtggg	20	12	1	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr1:153234265C>T	ENST00000368742.3	+	2	897	c.840C>T	c.(838-840)ggC>ggT	p.G280G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	280					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGAGGCGGCGGCGGCGGCT	0.716																																																	0								ENSG00000203782						5	7	6					1																	153234265		1332	3138	4470	LOR	SO:0001819	synonymous_variant	0			-	HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.840C>T	1.37:g.153234265C>T		Somatic	0	25	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	45.16	Q5T869|Q5XKF8	Silent	SNP							NULL	p.G280	ENST00000368742.3	37	c.840	CCDS30870.1	1	.	.	.	.	.	.	.	.	.	.	C	0.499	-0.871780	0.02570	.	.	ENSG00000203782	ENST00000392652	.	.	.	3.68	1.69	0.24217	.	.	.	.	.	T	0.21227	0.0511	.	.	.	0.26840	N	0.96839	.	.	.	.	.	.	T	0.23868	-1.0176	5	0.87932	D	0	-3.1075	4.9757	0.14138	0.0:0.6614:0.215:0.1236	.	.	.	.	W	280	.	ENSP00000376422:R280W	R	+	1	2	LOR	151500889	1.000000	0.71417	0.036000	0.18154	0.179000	0.23085	1.734000	0.38166	0.199000	0.20427	0.563000	0.77884	CGG	-	NULL		0.716	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	C	NM_000427	-		153234265	1	no_errors	ENST00000368742	ensembl	human	known	74_37	silent	SNP	0.088	T	T	153234265	C	T	153234265	2	4	212	1	0	0	0	0	0	0	0	1	8899	755	27	1		1	LOR	1	153234265	Silent	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	95757416	153234265	96016356	3	17332											
KCNJ9	3765	genome.wustl.edu	37	chr1	160057465	160057465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccgcccgccttgatgCccatctctactggtccatcc	9	18	1	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr1:160057465C>T	ENST00000368088.3	+	3	1282	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	347					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCCTTGATGCCCATCTCTAC	0.637																																																	0								ENSG00000162728						35	35	35					1																	160057465		2197	4294	6491	KCNJ9	SO:0001583	missense	0			-	HGNC	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.1040C>T	1.37:g.160057465C>T	ENSP00000357067:p.Ala347Val	Somatic	0	25	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q5JW75	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.A347V	ENST00000368088.3	37	c.1040	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	c	15.85	2.954112	0.53293	.	.	ENSG00000162728	ENST00000368088	D	0.94000	-3.33	4.42	4.42	0.53409	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.077539	0.50627	U	0.000118	T	0.76212	0.3956	N	0.04508	-0.205	0.50171	D	0.999858	B	0.13594	0.008	B	0.12156	0.007	T	0.72773	-0.4192	10	0.28530	T	0.3	.	13.9907	0.64364	0.0:1.0:0.0:0.0	.	347	Q92806	IRK9_HUMAN	V	347	ENSP00000357067:A347V	ENSP00000357067:A347V	A	+	2	0	KCNJ9	158324089	0.998000	0.40836	0.994000	0.49952	0.915000	0.54546	2.215000	0.42862	2.025000	0.59659	0.550000	0.68814	GCC	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3		0.637	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	protein_coding	OTTHUMT00000060628.1	C	NM_004983	-		160057465	1	no_errors	ENST00000368088	ensembl	human	known	74_37	missense	SNP	1.000	T	T	160057465	C	T	160057465	3	4	212	1	0	0	0	0	1	0	0	0	8059	739	26	2	1046	2	KCNJ9	1	160057465	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	6823200	160057465	89193156	4	17333											
CAPN2	824	genome.wustl.edu	37	chr1	223954074	223954074	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gattttgtcttttaggccaaGatatcaagtcagatggcttc	9	7	3	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr1:223954074G>T	ENST00000295006.5	+	16	2005	c.1696G>T	c.(1696-1698)Gat>Tat	p.D566Y	CAPN2_ENST00000433674.2_Missense_Mutation_p.D488Y|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	566	Domain IV.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTAGGCCAAGATATCAAGTC	0.423																																																	0								ENSG00000162909						139	123	128					1																	223954074		2203	4300	6503	CAPN2	SO:0001583	missense	0			-	HGNC	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1696G>T	1.37:g.223954074G>T	ENSP00000295006:p.Asp566Tyr	Somatic	0	49	0		0.555890421609159	372	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	10.34	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D566Y	ENST00000295006.5	37	c.1696	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689514	0.68271	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	T;T	0.32988	1.43;1.43	5.47	5.47	0.80525	EF-hand-like domain (1);	0.412660	0.29980	N	0.010711	T	0.50922	0.1644	M	0.79475	2.455	0.80722	D	1	B;P;B	0.35348	0.018;0.496;0.121	B;P;B	0.46144	0.134;0.505;0.105	T	0.54262	-0.8320	10	0.87932	D	0	.	19.3228	0.94248	0.0:0.0:1.0:0.0	.	488;149;566	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	Y	488;566;595	ENSP00000413158:D488Y;ENSP00000295006:D566Y	ENSP00000295006:D566Y	D	+	1	0	CAPN2	222020697	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.473000	0.97714	2.559000	0.86315	0.561000	0.74099	GAT	-	NULL		0.423	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	protein_coding	OTTHUMT00000090973.1	G	NM_001748	-		223954074	1	no_errors	ENST00000295006	ensembl	human	known	74_37	missense	SNP	1.000	T	T	223954074	G	T	223954074	3	4	212	1	0	0	0	0	1	0	0	0	2629	942	33	3	1765	3	CAPN2	1	223954074	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	63896609	223954074	25296547	5	17334											
TAF1B	9014	genome.wustl.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A													aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg					rs528368939		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																																	1	Insertion - Frameshift(1)	upper_aerodigestive_tract(1)						ENSG00000115750																																			TAF1B	SO:0001589	frameshift_variant	0				HGNC	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs	Somatic	0	30	0		0.555890421609159	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS							pfam_TF_Rrn7	p.N65fs	ENST00000263663.5	37	c.186_187	CCDS33143.1	2																																																																																			-	NULL		0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	protein_coding	OTTHUMT00000323426.2	-	NM_005680			9989571	1	no_errors	ENST00000263663	ensembl	human	known	74_37	frame_shift_ins	INS	0.992:0.991	A	A	9989571	-	A	9989570	7	5	212	1	0	1	1	0	0	0	0	0	15527	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-SI-A71O-01A-12D-A33E-09		9989570	233209803	6	17335											
PUM2	23369	genome.wustl.edu	37	chr2	20518400	20518400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaactttttggtagGcaaaagctatttggaggaaa	9	6	0	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:20518400G>A	ENST00000361078.2	-	2	80	c.58C>T	c.(58-60)Cct>Tct	p.P20S	PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000338086.5_Missense_Mutation_p.P20S|PUM2_ENST00000403432.1_Missense_Mutation_p.P20S|PUM2_ENST00000319801.5_Missense_Mutation_p.P20S|PUM2_ENST00000536417.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	20	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTGGTAGGCAAAAGCTAT	0.328																																																	0								ENSG00000055917						89	83	85					2																	20518400		2203	4300	6503	PUM2	SO:0001583	missense	0			-	HGNC	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.58C>T	2.37:g.20518400G>A	ENSP00000354370:p.Pro20Ser	Somatic	0	44	0		0.555890421609159	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP							pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.P20S	ENST00000361078.2	37	c.58		2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013512	0.75161	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000403432;ENST00000442400;ENST00000424110	T;T;T;T	0.21361	2.01;2.27;2.18;2.01	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.26955	0.0660	L	0.31065	0.9	0.80722	D	1	B;P	0.48230	0.003;0.907	B;P	0.52554	0.009;0.702	T	0.02093	-1.1215	10	0.56958	D	0.05	-12.1649	14.4969	0.67694	0.0702:0.0:0.9298:0.0	.	20;20	B7ZL34;Q8TB72-3	.;.	S	20	ENSP00000338173:P20S;ENSP00000354370:P20S;ENSP00000326746:P20S;ENSP00000385992:P20S	ENSP00000326746:P20S	P	-	1	0	PUM2	20381881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	1.425000	0.47237	0.591000	0.81541	CCT	-	NULL		0.328	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	protein_coding		G	NM_015317	-		20518400	-1	no_errors	ENST00000361078	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20518400	G	A	20518400	3	1	212	1	0	0	0	0	1	0	0	0	12834	1203	42	2	3212	2	PUM2	2	20518400	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	10528830	20518400	222680973	7	17336											
EHBP1	23301	genome.wustl.edu	37	chr2	63220684	63220684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtggcacagaagatctccGgactgaacgattacaaaaaa	10	8	1	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:63220684G>T	ENST00000263991.5	+	19	3448	c.2966G>T	c.(2965-2967)cGg>cTg	p.R989L	EHBP1_ENST00000405289.1_Missense_Mutation_p.R954L|EHBP1_ENST00000405015.3_Missense_Mutation_p.R918L|EHBP1_ENST00000431489.1_Missense_Mutation_p.R918L|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Missense_Mutation_p.R954L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	989						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAGATCTCCGGACTGAACGA	0.358																																																	0								ENSG00000115504						80	77	78					2																	63220684		2203	4299	6502	EHBP1	SO:0001583	missense	0			-	HGNC	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2966G>T	2.37:g.63220684G>T	ENSP00000263991:p.Arg989Leu	Somatic	0	25	0		0.555890421609159	130	1.49	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R989L	ENST00000263991.5	37	c.2966	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742426	0.15642	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.76578	-0.91;-0.91;-1.03;-1.02;-1.02	5.92	1.13	0.20643	.	0.280447	0.33496	N	0.004844	T	0.65439	0.2691	L	0.47716	1.5	0.41354	D	0.987388	P;P;P	0.46142	0.873;0.712;0.61	B;B;B	0.37692	0.256;0.196;0.12	T	0.59700	-0.7405	10	0.29301	T	0.29	.	10.1778	0.42948	0.3223:0.0:0.6777:0.0	.	954;918;989	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	L	918;918;989;954;954	ENSP00000384143:R918L;ENSP00000403783:R918L;ENSP00000263991:R989L;ENSP00000346482:R954L;ENSP00000385524:R954L	ENSP00000263991:R989L	R	+	2	0	EHBP1	63074188	1.000000	0.71417	0.933000	0.37362	0.965000	0.64279	2.631000	0.46502	0.128000	0.18479	-0.143000	0.13931	CGG	-	NULL		0.358	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	protein_coding	OTTHUMT00000251616.1	G	NM_015252	-		63220684	1	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	SNP	0.744	T	T	63220684	G	T	63220684	3	4	212	1	0	0	0	0	1	0	0	0	4977	1116	39	3	3036	3	EHBP1	2	63220684	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	42702284	63220684	179978689	8	17337											
INPP4A	3631	genome.wustl.edu	37	chr2	99182628	99182628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagcagcagacactggccGagaggtgcgtgccggctcct	15	12	0	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:99182628G>A	ENST00000523221.1	+	20	2431	c.2431G>A	c.(2431-2433)Gag>Aag	p.E811K	INPP4A_ENST00000409540.3_Missense_Mutation_p.E772K|INPP4A_ENST00000409463.1_Missense_Mutation_p.E140K|INPP4A_ENST00000409016.4_Missense_Mutation_p.E772K|INPP4A_ENST00000545415.1_Missense_Mutation_p.E772K|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000074304.5_Missense_Mutation_p.E811K|INPP4A_ENST00000409851.3_Missense_Mutation_p.E806K			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	811					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GACACTGGCCGAGAGGTGCGT	0.622																																																	0								ENSG00000040933						13	16	15					2																	99182628		2060	4202	6262	INPP4A	SO:0001583	missense	0			-	HGNC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2431G>A	2.37:g.99182628G>A	ENSP00000427722:p.Glu811Lys	Somatic	0	69	0		0.555890421609159	19	13.64	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP							superfamily_C2_dom	p.E811K	ENST00000523221.1	37	c.2431	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950173	0.92660	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.46451	1.79;2.15;0.87;2.15;1.79;1.77;2.15	5.22	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.994;1.0;1.0	D;D;P;D;D	0.85130	0.994;0.994;0.859;0.997;0.997	T	0.70281	-0.4915	10	0.54805	T	0.06	-26.9683	14.4079	0.67096	0.0:0.0:0.8514:0.1486	.	772;772;140;811;806	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	K	772;806;140;811;772;772;811	ENSP00000386704:E772K;ENSP00000386777:E806K;ENSP00000386329:E140K;ENSP00000074304:E811K;ENSP00000442149:E772K;ENSP00000387294:E772K;ENSP00000427722:E811K	ENSP00000074304:E811K	E	+	1	0	INPP4A	98549060	1.000000	0.71417	0.993000	0.49108	0.700000	0.40528	9.657000	0.98554	1.433000	0.47394	0.650000	0.86243	GAG	-	NULL		0.622	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	protein_coding	OTTHUMT00000376095.1	G	NM_001566	-		99182628	1	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99182628	G	A	99182628	3	1	212	1	0	0	0	0	1	0	0	0	7754	1059	37	1	2509	1	INPP4A	2	99182628	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	35961944	99182628	144016745	9	17338											
BUB1	699	genome.wustl.edu	37	chr2	111430293	111430293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggttttgaattcctctctGaaggacagcactggcatgct	10	10	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:111430293G>T	ENST00000302759.6	-	4	485	c.367C>A	c.(367-369)Cag>Aag	p.Q123K	BUB1_ENST00000535254.1_Missense_Mutation_p.Q103K|BUB1_ENST00000409311.1_Missense_Mutation_p.Q123K	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	123	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for interaction with CASC5.|Necessary for kinetochore localization.				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)		ATTCCTCTCTGAAGGACAGCA	0.493																																																	0								ENSG00000169679						125	124	124					2																	111430293		2203	4300	6503	BUB1	SO:0001583	missense	0			-	HGNC	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.367C>A	2.37:g.111430293G>T	ENSP00000302530:p.Gln123Lys	Somatic	0	45	0		0.555890421609159	44	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP							pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.Q123K	ENST00000302759.6	37	c.367	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702288	0.48307	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.55	5.55	0.83447	Mad3/BUB1 homology region 1 (3);	0.422461	0.25854	N	0.027876	T	0.48314	0.1493	L	0.37630	1.12	0.37208	D	0.904674	B;B;P	0.34562	0.007;0.283;0.457	B;B;B	0.25140	0.007;0.042;0.058	T	0.52533	-0.8563	10	0.11485	T	0.65	-7.1753	17.0095	0.86401	0.0:0.0:1.0:0.0	.	103;123;123	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	K	103;123;123;123;114;114	ENSP00000441013:Q103K;ENSP00000386701:Q123K;ENSP00000302530:Q123K;ENSP00000402883:Q114K;ENSP00000409713:Q114K	ENSP00000302530:Q123K	Q	-	1	0	BUB1	111146764	0.984000	0.35163	0.781000	0.31783	0.819000	0.46315	6.189000	0.72051	2.602000	0.87976	0.650000	0.86243	CAG	-	pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I		0.493	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	protein_coding	OTTHUMT00000331925.1	G	NM_004336	-		111430293	-1	no_errors	ENST00000302759	ensembl	human	known	74_37	missense	SNP	0.604	T	T	111430293	G	T	111430293	3	4	212	1	0	0	0	0	1	0	0	0	1572	1299	45	3	2978	3	BUB1	2	111430293	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	12247665	111430293	131769080	10	17339											
SMPD4	55627	genome.wustl.edu	37	chr2	130934161	130934161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaggtgagggaacGccatagcagcctccagtgga	15	11	0	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:130934161G>T	ENST00000409031.1	-	2	1270	c.122C>A	c.(121-123)gCg>gAg	p.A41E	SMPD4_ENST00000453750.1_Missense_Mutation_p.A41E|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.A41E|SMPD4_ENST00000351288.6_Missense_Mutation_p.A41E|SMPD4_ENST00000339679.7_5'UTR	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	2					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.A41V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GTGAGGGAACGCCATAGCAGC	0.458																																																	1	Substitution - Missense(1)	urinary_tract(1)						ENSG00000136699						72	71	71					2																	130934161		2203	4300	6503	SMPD4	SO:0001583	missense	0			-	HGNC	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.122C>A	2.37:g.130934161G>T	ENSP00000386531:p.Ala41Glu	Somatic	0	107	0		0.555890421609159	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP							NULL	p.A41E	ENST00000409031.1	37	c.122	CCDS42751.1	2	.	.	.	.	.	.	.	.	.	.	g	15.52	2.858527	0.51376	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000441135	.	.	.	3.27	3.27	0.37495	.	0.067163	0.64402	D	0.000016	T	0.70684	0.3252	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.999	T	0.73563	-0.3943	9	0.87932	D	0	.	10.195	0.43049	0.0:0.0:1.0:0.0	.	41;41;2;41	E7ESA2;B4DM23;Q9NXE4;B1PBA3	.;.;NSMA3_HUMAN;.	E	41;41;41;41;2	.	ENSP00000259217:A41E	A	-	2	0	SMPD4	130650631	1.000000	0.71417	0.966000	0.40874	0.808000	0.45660	6.726000	0.74758	1.801000	0.52704	0.455000	0.32223	GCG	-	NULL		0.458	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	protein_coding	OTTHUMT00000254516.3	G	NM_017751	-		130934161	-1	no_errors	ENST00000409031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	130934161	G	T	130934161	3	4	212	1	0	0	0	0	1	0	0	0	14815	1087	38	3	2554	3	SMPD4	2	130934161	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	19503868	130934161	112265212	11	17340											
TMEM163	81615	genome.wustl.edu	37	chr2	135470881	135470881	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcaggcgggtgctgctttCtagtaagcctgacaaaaaca	10	9	2	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:135470881C>A	ENST00000281924.6	-	2	275	c.211G>T	c.(211-213)Gaa>Taa	p.E71*		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	71						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTGCTGCTTTCTAGTAAGCCT	0.483																																																	0								ENSG00000152128						169	149	156					2																	135470881		2203	4300	6503	TMEM163	SO:0001587	stop_gained	0			-	HGNC		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.211G>T	2.37:g.135470881C>A	ENSP00000281924:p.Glu71*	Somatic	0	75	0		0.555890421609159	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Nonsense_Mutation	SNP							NULL	p.E71*	ENST00000281924.6	37	c.211	CCDS2172.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.404437	0.97542	.	.	ENSG00000152128	ENST00000281924;ENST00000537539	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.7075	0.91644	0.0:1.0:0.0:0.0	.	.	.	.	X	71;10	.	ENSP00000281924:E71X	E	-	1	0	TMEM163	135187351	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.495000	0.81514	2.656000	0.90262	0.591000	0.81541	GAA	-	NULL		0.483	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	protein_coding	OTTHUMT00000254631.2	C	NM_030923	-		135470881	-1	no_errors	ENST00000281924	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	135470881	C	A	135470881	4	1	212	1	0	0	0	0	0	1	0	0	16085	922	32	3	686	3	TMEM163	2	135470881	Nonsense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	4536720	135470881	107728492	12	17341											
GRB14	2888	genome.wustl.edu	37	chr2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T													tagttagtcggtgctccatgINStttttttttgcctgccagtg							TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																																	2	Deletion - Frameshift(2)	ovary(1)|breast(1)						ENSG00000115290																																			GRB14	SO:0001589	frameshift_variant	0				HGNC		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs	Somatic	0	26	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS							pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.H297fs	ENST00000263915.3	37	c.892_891	CCDS2222.1	2																																																																																			-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	protein_coding	OTTHUMT00000255180.2	-				165365288	-1	no_errors	ENST00000263915	ensembl	human	known	74_37	frame_shift_ins	INS	0.105:0.015	T	T	165365288	-	T	165365287	7	5	212	1	0	1	1	0	0	0	0	0	6759	1377	48	0	762	0	GRB14	2	165365287	Frame_Shift_Ins	INS	-	TCGA-SI-A71O-01A-12D-A33E-09	29894406	165365287	77834086	13	17342											
TTN	7273	genome.wustl.edu	37	chr2	179615352	179615352	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaatctcatgttttcTtccttctgttcggttttgaa	5	8	4	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:179615352T>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E3925D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TCATGTTTTCTTCCTTCTGTT	0.343																																																	0								ENSG00000155657						49	50	50					2																	179615352		2201	4296	6497	TTN	SO:0001627	intron_variant	0			-	HGNC	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.10360+2498A>T	2.37:g.179615352T>A		Somatic	0	23	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	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							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E3925D	ENST00000591111.1	37	c.11775		2	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076222	0.36662	.	.	ENSG00000155657	ENST00000360870	T	0.60672	0.17	5.55	-5.16	0.02857	.	.	.	.	.	T	0.31949	0.0813	N	0.14661	0.345	0.19775	N	0.999957	B	0.12630	0.006	B	0.10450	0.005	T	0.26360	-1.0105	9	0.15952	T	0.53	.	8.4886	0.33086	0.0:0.4189:0.2005:0.3806	.	3925	Q8WZ42-6	.	D	3925	ENSP00000354117:E3925D	ENSP00000354117:E3925D	E	-	3	2	TTN	179323597	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.191000	0.09601	-1.107000	0.03004	-2.997000	0.00077	GAA	-	NULL		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179615352	-1	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	SNP	0.000	A	A	179615352	T	A	179615352	1	1	212	0	1	0	0	0	0	0	0	0	16742	1606	56	5		5	TTN	2	179615352	Intron	SNP	T	TCGA-SI-A71O-01A-12D-A33E-09	14250065	179615352	63584021	14	17343											
PLCL1	5334	genome.wustl.edu	37	chr2	199011618	199011618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagcagcagtgctgagGccaagagcaagcgcagcctg	13	15	0	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:199011618G>A	ENST00000428675.1	+	6	3618	c.3220G>A	c.(3220-3222)Gcc>Acc	p.A1074T	PLCL1_ENST00000437704.2_Missense_Mutation_p.A976T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1074					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGTGCTGAGGCCAAGAGCAA	0.512																																																	0								ENSG00000115896						88	71	77					2																	199011618		2203	4300	6503	PLCL1	SO:0001583	missense	0			-	HGNC	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3220G>A	2.37:g.199011618G>A	ENSP00000402861:p.Ala1074Thr	Somatic	0	38	0		0.555890421609159	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A1074T	ENST00000428675.1	37	c.3220	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299815	0.40694	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.17213	2.29;2.31	5.97	2.01	0.26516	.	0.110421	0.40302	N	0.001125	T	0.11367	0.0277	L	0.36672	1.1	0.37415	D	0.913411	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21861	-1.0233	9	.	.	.	.	7.2005	0.25879	0.2115:0.1218:0.6668:0.0	.	1074;1000	Q15111;B4DYZ4	PLCL1_HUMAN;.	T	1074;976	ENSP00000402861:A1074T;ENSP00000414138:A976T	.	A	+	1	0	PLCL1	198719863	0.998000	0.40836	0.926000	0.36857	0.822000	0.46500	1.334000	0.33827	0.083000	0.17047	0.650000	0.86243	GCC	-	NULL		0.512	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	G	NM_006226	-		199011618	1	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	SNP	0.986	A	A	199011618	G	A	199011618	3	1	212	1	0	0	0	0	1	0	0	0	12041	1203	42	2	3242	2	PLCL1	2	199011618	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	19396266	199011618	44187755	15	17344											
SPHKAP	80309	genome.wustl.edu	37	chr2	228855785	228855785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccagttcagaggcagctatCcactgcagagtggctcggag	13	12	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:228855785C>G	ENST00000392056.3	-	11	4936	c.4890G>C	c.(4888-4890)tgG>tgC	p.W1630C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.W1601C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1630						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)		AGGCAGCTATCCACTGCAGAG	0.512																																																	0								ENSG00000153820						65	67	66					2																	228855785		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.4890G>C	2.37:g.228855785C>G	ENSP00000375909:p.Trp1630Cys	Somatic	0	17	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	10	62.96	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.W1630C	ENST00000392056.3	37	c.4890	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344393	0.82022	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.17691	2.26;2.26	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47169	-0.9138	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1630;1601	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	C	1630;1601	ENSP00000375909:W1630C;ENSP00000339886:W1601C	ENSP00000339886:W1601C	W	-	3	0	SPHKAP	228564029	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.194000	0.77789	2.941000	0.99782	0.655000	0.94253	TGG	-	pfam_AKAP_110_C		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	C	NM_030623	-		228855785	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	1.000	G	G	228855785	C	G	228855785	3	3	212	1	0	0	0	0	1	0	0	0	15055	856	30	4	220	4	SPHKAP	2	228855785	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	29844167	228855785	14343588	16	17345											
SPHKAP	80309	genome.wustl.edu	37	chr2	228856032	228856032	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttaagaatcttcttttcttCtactaattcactttgggaga	5	7	5	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:228856032C>T	ENST00000392056.3	-	10	4778	c.4732G>A	c.(4732-4734)Gaa>Aaa	p.E1578K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1549K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1578						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)		TTCTTTTCTTCTACTAATTCA	0.393																																																	0								ENSG00000153820						148	146	147					2																	228856032		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		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.4732G>A	2.37:g.228856032C>T	ENSP00000375909:p.Glu1578Lys	Somatic	0	33	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	14	61.11	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP							pfam_AKAP_110_C	p.E1578K	ENST00000392056.3	37	c.4732	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417579	0.83449	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.16457	2.34;2.57	6.04	6.04	0.98038	.	0.257949	0.42964	D	0.000637	T	0.41604	0.1166	M	0.65975	2.015	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01532	-1.1331	10	0.33141	T	0.24	.	17.7508	0.88432	0.0:1.0:0.0:0.0	.	1578;1549	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	1578;1549	ENSP00000375909:E1578K;ENSP00000339886:E1549K	ENSP00000339886:E1549K	E	-	1	0	SPHKAP	228564276	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.502000	0.53332	2.873000	0.98535	0.563000	0.77884	GAA	-	NULL		0.393	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	C	NM_030623	-		228856032	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	1.000	T	T	228856032	C	T	228856032	3	4	212	1	0	0	0	0	1	0	0	0	15055	922	32	2	382	2	SPHKAP	2	228856032	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	247	228856032	14343341	17	17346											
SP110	3431	genome.wustl.edu	37	chr2	231067394	231067394	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctttcttttgaggaacctGatccacccttttgagcttct	6	11	3	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr2:231067394G>T	ENST00000358662.4	-	9	1027	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	SP110_ENST00000258382.5_Missense_Mutation_p.Q317K|SP110_ENST00000338556.3_Intron|SP110_ENST00000258381.6_Missense_Mutation_p.Q317K|SP110_ENST00000392048.3_Missense_Mutation_p.Q315K|SP110_ENST00000540870.1_Missense_Mutation_p.Q323K|SP110_ENST00000486146.2_5'Flank	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	317					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAGGAACCTGATCCACCCTT	0.458																																																	0								ENSG00000135899						213	196	202					2																	231067394		2203	4300	6503	SP110	SO:0001583	missense	0			-	HGNC	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.949C>A	2.37:g.231067394G>T	ENSP00000351488:p.Gln317Lys	Somatic	0	42	0		0.555890421609159	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP							pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.Q317K	ENST00000358662.4	37	c.949	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224406	0.09863	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.68765	0.91;0.8;-0.25;-0.35;-0.33	3.72	1.87	0.25490	.	.	.	.	.	T	0.47432	0.1445	L	0.32530	0.975	0.09310	N	0.999998	B;B;B;B	0.33612	0.419;0.419;0.077;0.079	B;B;B;B	0.26864	0.074;0.074;0.012;0.018	T	0.32079	-0.9920	9	0.40728	T	0.16	.	4.4921	0.11819	0.1172:0.0:0.6639:0.2189	.	315;323;317;317	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	K	317;317;315;317;323	ENSP00000258381:Q317K;ENSP00000351488:Q317K;ENSP00000375902:Q315K;ENSP00000258382:Q317K;ENSP00000439558:Q323K	ENSP00000258381:Q317K	Q	-	1	0	SP110	230775638	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.431000	0.21444	0.535000	0.28714	0.563000	0.77884	CAG	-	NULL		0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	protein_coding	OTTHUMT00000332414.1	G	NM_080424	-		231067394	-1	no_errors	ENST00000258381	ensembl	human	known	74_37	missense	SNP	0.000	T	T	231067394	G	T	231067394	3	4	212	1	0	0	0	0	1	0	0	0	14969	1299	45	3	1300	3	SP110	2	231067394	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	2211362	231067394	12131979	18	17347											
CDCP1	64866	genome.wustl.edu	37	chr3	45127316	45127316	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcatatggtgggtggGgagggaggacagacccccat	18	8	0	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr3:45127316G>T	ENST00000296129.1	-	9	2459	c.2325C>A	c.(2323-2325)tcC>tcA	p.S775S		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	775						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGGTGGGTGGGGAGGGAGGAC	0.612																																																	0								ENSG00000163814						86	83	84					3																	45127316		2203	4300	6503	CDCP1	SO:0001819	synonymous_variant	0			-	HGNC	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2325C>A	3.37:g.45127316G>T		Somatic	0	35	0		0.555890421609159	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP							superfamily_CUB_dom	p.S775	ENST00000296129.1	37	c.2325	CCDS2727.1	3																																																																																			-	NULL		0.612	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	protein_coding	OTTHUMT00000256748.3	G	NM_022842	-		45127316	-1	no_errors	ENST00000296129	ensembl	human	known	74_37	silent	SNP	0.996	T	T	45127316	G	T	45127316	2	4	212	1	0	0	0	0	0	0	0	1	3095	1219	43	3		3	CDCP1	3	45127316	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		45127316	152895114	19	17348											
SEMA5B	54437	genome.wustl.edu	37	chr3	122642544	122642544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaatgggccattgaaagCctgggagatagcactgaggt	15	7	0	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr3:122642544C>T	ENST00000357599.3	-	10	1578	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	SEMA5B_ENST00000195173.4_Missense_Mutation_p.A398T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A452T	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	398	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCATTGAAAGCCTGGGAGATA	0.567																																																	0								ENSG00000082684						110	109	109					3																	122642544		2203	4300	6503	SEMA5B	SO:0001583	missense	0			-	HGNC	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1192G>A	3.37:g.122642544C>T	ENSP00000350215:p.Ala398Thr	Somatic	0	91	0		0.555890421609159	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.87	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.A452T	ENST00000357599.3	37	c.1354	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430297	0.62844	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.173358	0.49916	D	0.000126	T	0.17704	0.0425	L	0.56124	1.755	0.58432	D	0.999995	B;B;B	0.30889	0.093;0.299;0.187	B;B;B	0.30251	0.068;0.113;0.113	T	0.01613	-1.1312	10	0.48119	T	0.1	.	18.3337	0.90280	0.0:1.0:0.0:0.0	.	340;398;398	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	T	398;398;340;452;398	ENSP00000350215:A398T;ENSP00000195173:A398T;ENSP00000389588:A452T;ENSP00000377208:A398T	ENSP00000195173:A398T	A	-	1	0	SEMA5B	124125234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.717000	0.61923	2.885000	0.99019	0.655000	0.94253	GCT	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.567	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	protein_coding	OTTHUMT00000277165.1	C	NM_001031702	-		122642544	-1	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122642544	C	T	122642544	3	4	212	1	0	0	0	0	1	0	0	0	14046	739	26	2	2319	2	SEMA5B	3	122642544	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	77515228	122642544	75379886	20	17349											
APBB2	323	genome.wustl.edu	37	chr4	40818138	40818138	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggtgacagggcgtttctGtttcaaagtgtcaatgaggg	14	6	3	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr4:40818138G>A	ENST00000295974.8	-	18	2877	c.2248C>T	c.(2248-2250)Cag>Tag	p.Q750*	APBB2_ENST00000508593.1_Nonsense_Mutation_p.Q751*|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Nonsense_Mutation_p.Q729*|APBB2_ENST00000543538.1_Nonsense_Mutation_p.Q202*|APBB2_ENST00000502841.1_Nonsense_Mutation_p.Q202*|APBB2_ENST00000504305.1_Nonsense_Mutation_p.Q202*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.Q728*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	750					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGGCGTTTCTGTTTCAAAGTG	0.463																																					Ovarian(3;20 75 16686 49997)												0								ENSG00000163697						264	258	260					4																	40818138		1970	4151	6121	APBB2	SO:0001587	stop_gained	0			-	HGNC	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2248C>T	4.37:g.40818138G>A	ENSP00000295974:p.Gln750*	Somatic	0	53	0		0.555890421609159	57	38.71	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	35	42.62	B4DSL4|E9PG87|Q8IUI6	Nonsense_Mutation	SNP							pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.Q750*	ENST00000295974.8	37	c.2248	CCDS54761.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.931005|9.931005	0.99298|0.99298	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305|ENST00000513611	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.054103|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75459	.|0.3852	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73500	.|-0.3963	.|4	0.02654|.	T|.	1|.	-17.704|-17.704	19.4755|19.4755	0.94985|0.94985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	750;749;202;728;751;202;729;202|719	.|.	ENSP00000295974:Q750X|.	Q|T	-|-	1|2	0|0	APBB2|APBB2	40512895|40512895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.787000|7.787000	0.85759|0.85759	2.605000|2.605000	0.88082|0.88082	0.650000|0.650000	0.86243|0.86243	CAG|ACA	-	NULL		0.463	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	protein_coding	OTTHUMT00000360523.3	G	NM_173075	-		40818138	-1	no_errors	ENST00000295974	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	40818138	G	A	40818138	4	1	212	1	0	0	0	0	0	1	0	0	761	1386	48	2	32	2	APBB2	4	40818138	Nonsense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		40818138	150336138	21	17350											
SEC24D	9871	genome.wustl.edu	37	chr4	119666217	119666218	+	Splice_Site	INS	-	-	A													cccaggacagtctgctgcctINSaaaaaaaaaaaaaaacccaa					rs78494615|rs35951660		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr4:119666217_119666218insA	ENST00000280551.6	-	14	1946		c.e14-2		SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000429811.2_Splice_Site|SEC24D_ENST00000379735.5_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTCTGCTGCCTAAAAAAAAAAA	0.381																																																	0								ENSG00000150961																																			SEC24D	SO:0001630	splice_region_variant	0				HGNC	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1708-2->T	4.37:g.119666228_119666228dupA		Somatic	0	11	0		0.555890421609159	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q8IYI7	Splice_Site	INS							-	e13-2	ENST00000280551.6	37	c.1711-3_1711-2	CCDS3710.1	4																																																																																			-	-		0.381	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	protein_coding	OTTHUMT00000256514.4	-			Intron	119666218	-1	no_errors	ENST00000379735	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.975	A	A	119666218	-	A	119666217	8	5	212	1	0	1	1	0	0	0	1	0	14005	1536	53	0	1432	0	SEC24D	4	119666217	Splice_Site	INS	-	TCGA-SI-A71O-01A-12D-A33E-09	78848079	119666217	71488059	22	17351											
ABCE1	6059	genome.wustl.edu	37	chr4	146048725	146048725	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactttttcttggatgattaGactgactctgagaatattga	8	5	2	5			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr4:146048725G>T	ENST00000296577.4	+	18	2315	c.1800G>T	c.(1798-1800)taG>taT	p.*600Y	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	0					negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGGATGATTAGACTGACTCTG	0.313																																																	0								ENSG00000164163						102	106	104					4																	146048725		2203	4300	6503	ABCE1	SO:0001578	stop_lost	0			-	HGNC	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1800G>T	4.37:g.146048725G>T	ENSP00000296577:p.*600Tyrext*17	Somatic	0	69	0		0.555890421609159	108	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Nonstop_Mutation	SNP							pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.*600Y	ENST00000296577.4	37	c.1800	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821536	0.71028	.	.	ENSG00000164163	ENST00000296577	.	.	.	5.24	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3715	0.16142	0.5599:0.0:0.4401:0.0	.	.	.	.	Y	600	.	.	X	+	3	2	ABCE1	146268175	0.983000	0.35010	0.997000	0.53966	0.794000	0.44872	1.399000	0.34566	0.721000	0.32231	0.650000	0.86243	TAG	-	NULL		0.313	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	protein_coding	OTTHUMT00000365104.1	G	NM_002940	-		146048725	1	no_errors	ENST00000296577	ensembl	human	known	74_37	nonstop	SNP	1.000	T	T	146048725	G	T	146048725	4	4	212	1	0	0	0	0	0	0	0	0	64	937	33	3	1866	3	ABCE1	4	146048725	Nonstop_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	26382508	146048725	45105551	23	17352											
PCDHA1	56147	genome.wustl.edu	37	chr5	140167900	140167900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggagagcggccaggcGccaaaggcgtcttcgcgggc	18	12	1	1	rs143057294	byFrequency	TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr5:140167900G>A	ENST00000504120.2	+	1	2025	c.2025G>A	c.(2023-2025)gcG>gcA	p.A675A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A675A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	675	Cadherin 6. {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)|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)			GCGGCCAGGCGCCAAAGGCGT	0.657																																																	0								ENSG00000204970	G	,,	2,4400	4.2+/-10.8	0,2,2199	40	46	44		2025,2025,	-6.1	0	5	dbSNP_134	44	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,intron	PCDHA1	NM_018900.2,NM_031410.1,NM_031411.1	,,	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	,,	675/951,675/808,	140167900	2,12998	2201	4299	6500	PCDHA1	SO:0001819	synonymous_variant	0			-	HGNC	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.2025G>A	5.37:g.140167900G>A		Somatic	0	61	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	O75288|Q9NRT7	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A675	ENST00000504120.2	37	c.2025	CCDS54913.1	5																																																																																			-	smart_Cadherin,pfscan_Cadherin		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	G	NM_018900	rs143057294		140167900	1	no_errors	ENST00000504120	ensembl	human	known	74_37	silent	SNP	0.004	A	A	140167900	G	A	140167900	2	1	212	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA1	5	140167900	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		140167900	40747360	24	17353											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503450	140503450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaggtgCgcaccgccaggctgctgagc	17	13	0	1	rs372114502		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr5:140503450C>T	ENST00000194152.1	+	1	1870	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	624	Cadherin 6. {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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.697																																																	0								ENSG00000081818						27	27	27					5																	140503450		2031	4040	6071	PCDHB4	SO:0001583	missense	0			-	HGNC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1870C>T	5.37:g.140503450C>T	ENSP00000194152:p.Arg624Cys	Somatic	0	64	0		0.555890421609159	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q4V761	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R624C	ENST00000194152.1	37	c.1870	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899529	0.52227	.	.	ENSG00000081818	ENST00000194152	T	0.52754	0.65	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78742	0.4331	H	0.98295	4.195	0.48341	D	0.999639	D	0.89917	1.0	D	0.87578	0.998	D	0.84923	0.0855	9	0.72032	D	0.01	.	10.939	0.47262	0.3132:0.6868:0.0:0.0	.	624	Q9Y5E5	PCDB4_HUMAN	C	624	ENSP00000194152:R624C	ENSP00000194152:R624C	R	+	1	0	PCDHB4	140483634	0.796000	0.28864	1.000000	0.80357	0.997000	0.91878	0.439000	0.21575	2.307000	0.77673	0.485000	0.47835	CGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	C	NM_018938	-		140503450	1	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	SNP	1.000	T	T	140503450	C	T	140503450	3	4	212	1	0	0	0	0	1	0	0	0	11546	768	27	1	1872	1	PCDHB4	5	140503450	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	335550	140503450	40411810	25	17354											
PCYOX1L	78991	genome.wustl.edu	37	chr5	148743621	148743627	+	Frame_Shift_Del	DEL	GGTGGGC	GGTGGGC	-													ctgaggcaccggcgcgaggtGgtgggcaggagcgccatctt							TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	GGTGGGC	GGTGGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr5:148743621_148743627delGGTGGGC	ENST00000274569.4	+	3	380_386	c.318_324delGGTGGGC	c.(316-324)gtggtgggcfs	p.VVG106fs	PCYOX1L_ENST00000514349.1_Frame_Shift_Del_p.VVG16fs	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	106					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGAGGTGGTGGGCAGGAGCGCCA	0.609																																					Ovarian(62;1136 1477 27277 27495)												0								ENSG00000145882																																			PCYOX1L	SO:0001589	frameshift_variant	0				HGNC		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.318_324delGGTGGGC	5.37:g.148743621_148743627delGGTGGGC	ENSP00000274569:p.Val106fs	Somatic					0.555890421609159	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Frame_Shift_Del	DEL							pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.V107fs	ENST00000274569.4	37	c.318_324	CCDS4296.1	5																																																																																			-	pirsf_Prenylcysteine_Oxase		0.609	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	protein_coding	OTTHUMT00000252331.2	GGTGGGC	NM_024028			148743627	1	no_errors	ENST00000274569	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:0.931:1.000:1.000:0.995	-	-	148743627	GGTGGGC	-	148743621	7	5	212	1	0	1	0	1	0	0	0	0	11611	1335	47	0	328	0	PCYOX1L	5	148743621	Frame_Shift_Del	DEL	GGTGGGC	TCGA-SI-A71O-01A-12D-A33E-09	8240171	148743621	32171639	26	17355											
ARHGEF37	389337	genome.wustl.edu	37	chr5	149001563	149001564	+	Frame_Shift_Del	DEL	GT	GT	-													gccagatcatgtgcacattcGtgaccctccagagggacctt							TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr5:149001563_149001564delGT	ENST00000333677.6	+	9	1436_1437	c.1273_1274delGT	c.(1273-1275)gtgfs	p.V425fs		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	425	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTGCACATTCGTGACCCTCCAG	0.589																																																	0								ENSG00000183111																																			ARHGEF37	SO:0001589	frameshift_variant	0				HGNC	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1273_1274delGT	5.37:g.149001563_149001564delGT	ENSP00000328083:p.Val425fs	Somatic	0	19	0		0.555890421609159	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q6ZW51	Frame_Shift_Del	DEL							pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.V425fs	ENST00000333677.6	37	c.1273_1274	CCDS43385.1	5																																																																																			-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.589	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	protein_coding	OTTHUMT00000373763.1	GT	NM_001001669			149001564	1	no_errors	ENST00000333677	ensembl	human	known	74_37	frame_shift_del	DEL	0.979:1.000	-	-	149001564	GT	-	149001563	7	5	212	1	0	1	0	1	0	0	0	0	906	1145	40	0	1303	0	ARHGEF37	5	149001563	Frame_Shift_Del	DEL	GT	TCGA-SI-A71O-01A-12D-A33E-09	257942	149001563	31913697	27	17356											
NMUR2	56923	genome.wustl.edu	37	chr5	151784153	151784153	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcagggagaagagcacGgagaagccccagacgatgcc	16	10	0	4			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr5:151784153G>T	ENST00000255262.3	-	1	687	c.522C>A	c.(520-522)tcC>tcA	p.S174S	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	174					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)	p.S174S(1)		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)			AGAAGAGCACGGAGAAGCCCC	0.637																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000132911						77	82	80					5																	151784153		2203	4300	6503	NMUR2	SO:0001819	synonymous_variant	0			-	HGNC	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.522C>A	5.37:g.151784153G>T		Somatic	0	49	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q7LC54|Q96AM5|Q9NRA6	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.S174	ENST00000255262.3	37	c.522	CCDS4321.1	5																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.637	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	protein_coding	OTTHUMT00000252439.1	G	NM_020167	-		151784153	-1	no_errors	ENST00000255262	ensembl	human	known	74_37	silent	SNP	0.000	T	T	151784153	G	T	151784153	2	4	212	1	0	0	0	0	0	0	0	1	10509	1103	39	3		3	NMUR2	5	151784153	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	2782590	151784153	29131107	28	17357											
WRNIP1	56897	genome.wustl.edu	37	chr6	2770552	2770552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgtcctagactctagcCgtcccactgaccctctgagc	7	18	2	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr6:2770552C>T	ENST00000380773.4	+	3	1422	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	WRNIP1_ENST00000380771.4_Missense_Mutation_p.R380C|WRNIP1_ENST00000380764.1_Missense_Mutation_p.R21C|WRNIP1_ENST00000380769.4_Missense_Mutation_p.R185C	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1									p.R405S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGACTCTAGCCGTCCCACTGA	0.547																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000124535						81	76	77					6																	2770552		2203	4300	6503	WRNIP1	SO:0001583	missense	0			-	HGNC	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1213C>T	6.37:g.2770552C>T	ENSP00000370150:p.Arg405Cys	Somatic	0	63	0		0.555890421609159	135	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP							pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.R405C	ENST00000380773.4	37	c.1213	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957836	0.53400	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.50001	0.76;0.81;0.81	5.79	3.88	0.44766	.	0.622335	0.17681	N	0.165626	T	0.26593	0.0650	L	0.46157	1.445	0.40048	D	0.975733	B;B	0.23058	0.079;0.018	B;B	0.16289	0.015;0.007	T	0.24368	-1.0162	10	0.66056	D	0.02	-34.9001	10.8255	0.46629	0.15:0.7189:0.1311:0.0	.	380;405	Q96S55-2;Q96S55	.;WRIP1_HUMAN	C	405;380;185;21	ENSP00000370150:R405C;ENSP00000370148:R380C;ENSP00000370146:R185C	ENSP00000370141:R21C	R	+	1	0	WRNIP1	2715551	0.991000	0.36638	0.997000	0.53966	0.997000	0.91878	2.082000	0.41605	2.731000	0.93534	0.650000	0.86243	CGT	-	superfamily_P-loop_NTPase		0.547	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	protein_coding	OTTHUMT00000039641.1	C	NM_130395	-		2770552	1	no_errors	ENST00000380773	ensembl	human	known	74_37	missense	SNP	0.912	T	T	2770552	C	T	2770552	3	4	212	1	0	0	0	0	1	0	0	0	17410	652	23	1	1223	1	WRNIP1	6	2770552	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09		2770552	168344515	29	17358											
BCLAF1	9774	genome.wustl.edu	37	chr6	136582417	136582417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttataccttttcttccttgcGtctgtccttcttttcttcat	3	12	5	0	rs62431283		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr6:136582417G>A	ENST00000531224.1	-	12	2995	c.2743C>T	c.(2743-2745)Cgc>Tgc	p.R915C	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R742C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R864C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R866C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R913C|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R133C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R864C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	915					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCCTTGCGTCTGTCCTTC	0.343																																					Colon(142;1534 1789 5427 7063 28491)												0								ENSG00000029363						159	156	157					6																	136582417		2203	4300	6503	BCLAF1	SO:0001583	missense	0			-	HGNC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2743C>T	6.37:g.136582417G>A	ENSP00000435210:p.Arg915Cys	Somatic	0	45	0		0.555890421609159	166	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	68	19.05	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP							NULL	p.R915C	ENST00000531224.1	37	c.2743	CCDS5177.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.704940|2.704940	0.48412|0.48412	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.50001|.	4.26;4.26;4.26;2.36;4.26;0.76;4.26|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.32823|0.32823	0.0842|0.0842	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.85130|.	0.988;0.997;0.988;0.988;0.988|.	T|T	0.30822|0.30822	-0.9965|-0.9965	10|5	0.59425|.	D|.	0.04|.	-2.0E-4|-2.0E-4	18.034|18.034	0.89293|0.89293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs62431283|rs62431283	913;194;864;915;742|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	C|M	915;864;866;742;913;133;864|181	ENSP00000435210:R915C;ENSP00000229446:R864C;ENSP00000435441:R866C;ENSP00000436501:R742C;ENSP00000434826:R913C;ENSP00000031135:R133C;ENSP00000376159:R864C|.	ENSP00000031135:R133C|.	R|T	-|-	1|2	0|0	BCLAF1|BCLAF1	136624110|136624110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.363000|5.363000	0.66104|0.66104	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	CGC|ACG	-	NULL		0.343	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	protein_coding	OTTHUMT00000042375.2	G	NM_014739	rs62431283		136582417	-1	no_errors	ENST00000531224	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136582417	G	A	136582417	3	1	212	1	0	0	0	0	1	0	0	0	1383	1145	40	1	27	1	BCLAF1	6	136582417	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	133811865	136582417	34532650	30	17359											
ABCB1	5243	genome.wustl.edu	37	chr7	87175223	87175223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctttctctttcatgaGttcatcatgatttcctttct	4	10	5	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr7:87175223G>T	ENST00000265724.3	-	16	2260	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I	ABCB1_ENST00000543898.1_Missense_Mutation_p.L551I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTTTCATGAGTTCATCATGA	0.383																																																	0								ENSG00000085563						158	128	138					7																	87175223		2203	4300	6503	ABCB1	SO:0001583	missense	0			-	HGNC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1843C>A	7.37:g.87175223G>T	ENSP00000265724:p.Leu615Ile	Somatic	0	31	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L615I	ENST00000265724.3	37	c.1843	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541284	0.85917	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.95035	-3.59;-3.59	5.86	4.97	0.65823	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.75150	2.29	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72625	0.978;0.971	D	0.96462	0.9342	10	0.87932	D	0	-15.6955	14.2928	0.66292	0.1196:0.0:0.8804:0.0	.	551;615	B5AK60;P08183	.;MDR1_HUMAN	I	396;615;551	ENSP00000265724:L615I;ENSP00000444095:L551I	ENSP00000265724:L615I	L	-	1	0	ABCB1	87013159	1.000000	0.71417	0.973000	0.42090	0.817000	0.46193	4.743000	0.62110	2.937000	0.99478	0.650000	0.86243	CTC	-	pfscan_ABC_transporter-like		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	protein_coding	OTTHUMT00000335444.2	G	NM_000927	-		87175223	-1	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	SNP	1.000	T	T	87175223	G	T	87175223	3	4	212	1	0	0	0	0	1	0	0	0	40	1029	36	3	2055	3	ABCB1	7	87175223	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		87175223	71963440	31	17360											
PRSS1	5644	genome.wustl.edu	37	chr7	142459667	142459667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacaacatcgaagtcctGgaggggaatgagcagttcat	13	8	1	1	rs142476093		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr7:142459667G>A	ENST00000311737.7	+	3	249	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PRSS1_ENST00000486171.1_Silent_p.L95L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCGAAGTCCTGGAGGGGAATG	0.542																																																	0								ENSG00000204983						213	200	204					7																	142459667		2203	4300	6503	PRSS1	SO:0001819	synonymous_variant	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.243G>A	7.37:g.142459667G>A		Somatic	0	63	0		0.555890421609159	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	94	8.74	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L81	ENST00000311737.7	37	c.243	CCDS5872.1	7																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	G		-		142459667	1	no_errors	ENST00000311737	ensembl	human	known	74_37	silent	SNP	0.003	A	A	142459667	G	A	142459667	2	1	212	1	0	0	0	0	0	0	0	1	12619	1335	47	2		2	PRSS1	7	142459667	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	55284444	142459667	16678996	32	17361											
C8orf80	389643	genome.wustl.edu	37	chr8	27927170	27927170	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgtgattccaatttttcatCtggaattaacagagagatgt	8	7	2	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr8:27927170C>A	ENST00000413272.2	-	4	291		c.e4-1		NUGGC_ENST00000341513.6_Splice_Site	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated						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)										AATTTTTCATCTGGAATTAAC	0.438																																																	0								ENSG00000189233						106	102	103					8																	27927170		1859	4111	5970	NUGGC	SO:0001630	splice_region_variant	0			-	HGNC	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.149-1G>T	8.37:g.27927170C>A		Somatic	0	32	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q6ZP73	Splice_Site	SNP							-	e3-1	ENST00000413272.2	37	c.149-1	CCDS47833.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.72|11.72	1.721576|1.721576	0.30503|0.30503	.|.	.|.	ENSG00000189233|ENSG00000189233	ENST00000413272;ENST00000341513|ENST00000418860	.|T	.|0.55760	.|0.5	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67702	.|0.2921	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70777	.|-0.4780	.|6	.|0.87932	.|D	.|0	.|.	14.8985|14.8985	0.70661|0.70661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Y	-1|74	.|ENSP00000388515:D74Y	.|ENSP00000388515:D74Y	.|D	-|-	.|1	.|0	C8orf80|C8orf80	27983089|27983089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.213000|0.213000	0.24496|0.24496	4.037000|4.037000	0.57311|0.57311	2.654000|2.654000	0.90174|0.90174	0.650000|0.650000	0.86243|0.86243	.|GAT	-	-		0.438	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906	-	Intron	27927170	-1	no_errors	ENST00000341513	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	27927170	C	A	27927170	5	1	212	1	0	0	0	0	0	0	1	0	2441	927	32	3	2306	3	C8orf80	8	27927170	Splice_Site	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09		27927170	118436852	33	17362											
PRKDC	5591	genome.wustl.edu	37	chr8	48801762	48801763	+	Frame_Shift_Ins	INS	-	-	A													actctcatcaggtgtgtattINSacacaagtccttcttcagga							TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr8:48801762_48801763insA	ENST00000314191.2	-	34	4145_4146	c.4089_4090insT	c.(4087-4092)tgtaatfs	p.N1364fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N1364fs|PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1365					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGTGTGTATTACACAAGTCCT	0.485								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729																																			PRKDC	SO:0001589	frameshift_variant	0				HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4090dupT	8.37:g.48801763_48801763dupA	ENSP00000313420:p.Asn1364fs	Somatic	0	17	0		0.555890421609159	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.N1363fs	ENST00000314191.2	37	c.4090_4089		8																																																																																			-	NULL		0.485	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		-	NM_001081640			48801763	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_ins	INS	0.070:0.066	A	A	48801763	-	A	48801762	7	5	212	1	0	1	1	0	0	0	0	0	12526	1754	61	0	8509	0	PRKDC	8	48801762	Frame_Shift_Ins	INS	-	TCGA-SI-A71O-01A-12D-A33E-09	20874592	48801762	97562260	34	17363											
EYA1	2138	genome.wustl.edu	37	chr8	72123391	72123392	+	Splice_Site	INS	-	-	T													accatctaggaatgctcaccINSttttttgctccttgttcttc					rs397517919|rs143798228		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr8:72123391_72123392insT	ENST00000340726.3	-	17	2336_2337	c.1697_1698insA	c.(1696-1698)aag>aaAg	p.K566fs	EYA1_ENST00000388741.2_Splice_Site_p.K532fs|EYA1_ENST00000388742.4_Splice_Site_p.K566fs|EYA1_ENST00000419131.1_Splice_Site_p.K531fs|EYA1_ENST00000388740.3_Splice_Site_p.K533fs|EYA1_ENST00000388743.2_Splice_Site_p.K565fs|EYA1_ENST00000303824.7_Splice_Site_p.K560fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	566					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTCC	0.361																																																	0			GRCh37	CI082242	EYA1	I		ENSG00000104313																																			EYA1	SO:0001630	splice_region_variant	0				HGNC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1698+1->A	8.37:g.72123397_72123397dupT		Somatic	0	38	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Frame_Shift_Ins	INS							pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.H567fs	ENST00000340726.3	37	c.1698_1697	CCDS34906.1	8																																																																																			-	superfamily_HAD-like_dom,tigrfam_EYA		0.361	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	protein_coding	OTTHUMT00000313788.2	-	NM_000503, NM_172060		Frame_Shift_Ins	72123392	-1	no_errors	ENST00000340726	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	72123392	-	T	72123391	8	5	212	1	0	1	1	0	0	0	1	0	5330	695	24	0	88	0	EYA1	8	72123391	Splice_Site	INS	-	TCGA-SI-A71O-01A-12D-A33E-09	23321629	72123391	74240631	35	17364											
SCRIB	23513	genome.wustl.edu	37	chr8	144895522	144895522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccagatccagctgttccaGcttgaccagaaatgacaggg	10	12	0	4			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr8:144895522G>T	ENST00000320476.3	-	6	532	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	SCRIB_ENST00000377533.3_Missense_Mutation_p.L95M|SCRIB_ENST00000356994.2_Missense_Mutation_p.L176M|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	176	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)			AGCTGTTCCAGCTTGACCAGA	0.642																																					Pancreas(51;966 1133 10533 14576 29674)												0								ENSG00000180900						74	75	75					8																	144895522		2203	4300	6503	SCRIB	SO:0001583	missense	0			-	HGNC	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.526C>A	8.37:g.144895522G>T	ENSP00000322938:p.Leu176Met	Somatic	0	34	0		0.555890421609159	157	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	13.33	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP							pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L176M	ENST00000320476.3	37	c.526	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442011	0.83993	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.61392	0.11;0.11;0.11	4.28	4.28	0.50868	.	.	.	.	.	T	0.78444	0.4284	M	0.91717	3.235	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82220	-0.0565	9	0.87932	D	0	.	9.8765	0.41207	0.1095:0.0:0.8905:0.0	.	176;176	Q14160;Q14160-3	SCRIB_HUMAN;.	M	176;176;95	ENSP00000349486:L176M;ENSP00000322938:L176M;ENSP00000366756:L95M	ENSP00000322938:L176M	L	-	1	2	SCRIB	144967510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.903000	0.56318	2.069000	0.61940	0.563000	0.77884	CTG	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	protein_coding	OTTHUMT00000382215.1	G	NM_015356	-		144895522	-1	no_errors	ENST00000320476	ensembl	human	known	74_37	missense	SNP	1.000	T	T	144895522	G	T	144895522	3	4	212	1	0	0	0	0	1	0	0	0	13945	962	34	3	4569	3	SCRIB	8	144895522	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	72772131	144895522	1468500	36	17365											
SURF1	6834	genome.wustl.edu	37	chr9	136221533	136221533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctggcagagggacagGctcagccagaactctggact	14	12	2	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr9:136221533G>T	ENST00000371974.3	-	4	335	c.304C>A	c.(304-306)Cct>Act	p.P102T	SURF2_ENST00000371964.4_5'Flank|SURF1_ENST00000495952.1_5'Flank	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	102					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGAGGGACAGGCTCAGCCAGA	0.587																																																	0								ENSG00000148290						131	134	133					9																	136221533		2203	4300	6503	SURF1	SO:0001583	missense	0			-	HGNC		CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"Mitochondrial respiratory chain complex assembly factors"	11474	protein-coding gene	gene with protein product	"surfeit locus protein 1"	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.304C>A	9.37:g.136221533G>T	ENSP00000361042:p.Pro102Thr	Somatic	0	36	0		0.555890421609159	133	0.75	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q5T8T3|Q5T8T4	Missense_Mutation	SNP							pfam_Surf1/Shy1,pfscan_Surf1/Shy1	p.P102T	ENST00000371974.3	37	c.304	CCDS6966.1	9	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676828	0.67928	.	.	ENSG00000148290	ENST00000371974;ENST00000437995	D	0.95137	-3.62	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.98295	0.9435	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99818	1.1045	10	0.87932	D	0	-20.6655	17.3282	0.87255	0.0:0.0:1.0:0.0	.	102	Q15526	SURF1_HUMAN	T	102;84	ENSP00000361042:P102T	ENSP00000361042:P102T	P	-	1	0	SURF1	135211354	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	9.031000	0.93731	2.310000	0.77875	0.563000	0.77884	CCT	-	pfam_Surf1/Shy1,pfscan_Surf1/Shy1		0.587	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF1	protein_coding	OTTHUMT00000054879.1	G	NM_003172	-		136221533	-1	no_errors	ENST00000371974	ensembl	human	known	74_37	missense	SNP	1.000	T	T	136221533	G	T	136221533	3	4	212	1	0	0	0	0	1	0	0	0	15410	1203	42	3	622	3	SURF1	9	136221533	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		136221533	4991898	37	17366											
SFXN4	119559	genome.wustl.edu	37	chr10	120905850	120905850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacaatgaccctgggtttttCctgaaatactgggtcctgta	9	10	0	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr10:120905850C>A	ENST00000355697.2	-	13	853	c.834G>T	c.(832-834)agG>agT	p.R278S	SFXN4_ENST00000330036.6_Missense_Mutation_p.R269S|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	278					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CTGGGTTTTTCCTGAAATACT	0.433																																																	0								ENSG00000183605						132	124	127					10																	120905850		2203	4300	6503	SFXN4	SO:0001583	missense	0			-	HGNC		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.834G>T	10.37:g.120905850C>A	ENSP00000347924:p.Arg278Ser	Somatic	0	79	0		0.555890421609159	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q6WSU4|Q86TD9	Missense_Mutation	SNP							pfam_Mtc	p.R278S	ENST00000355697.2	37	c.834	CCDS7610.1	10	.	.	.	.	.	.	.	.	.	.	C	7.535	0.659435	0.14645	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.31510	1.49;1.49;1.49	4.99	1.9	0.25705	.	1.370110	0.05101	N	0.487143	T	0.19287	0.0463	N	0.22421	0.69	0.09310	N	1	B	0.18013	0.025	B	0.24006	0.05	T	0.29427	-1.0012	10	0.20519	T	0.43	0.1459	2.4215	0.04449	0.193:0.5103:0.1875:0.1092	.	278	Q6P4A7	SFXN4_HUMAN	S	278;269;161;162	ENSP00000347924:R278S;ENSP00000333200:R269S;ENSP00000358127:R162S	ENSP00000333200:R269S	R	-	3	2	SFXN4	120895840	0.009000	0.17119	0.008000	0.14137	0.003000	0.03518	0.476000	0.22180	1.215000	0.43411	0.650000	0.86243	AGG	-	pfam_Mtc		0.433	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	protein_coding	OTTHUMT00000050642.3	C	XM_058406	-		120905850	-1	no_errors	ENST00000355697	ensembl	human	known	74_37	missense	SNP	0.001	A	A	120905850	C	A	120905850	3	1	212	1	0	0	0	0	1	0	0	0	14205	854	30	3	187	3	SFXN4	10	120905850	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09		120905850	14628897	38	17367											
LGR4	55366	genome.wustl.edu	37	chr11	27390228	27390228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattcccctctatggaaaAggggaaaacagcctgctact	8	10	1	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr11:27390228A>G	ENST00000379214.4	-	18	2485	c.2042T>C	c.(2041-2043)cTt>cCt	p.L681P	LGR4_ENST00000389858.4_Missense_Mutation_p.L657P	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	681				L -> I (in Ref. 4; AAH33039). {ECO:0000305}.	bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TCTATGGAAAAGGGGAAAACA	0.428																																																	0								ENSG00000205213						90	82	85					11																	27390228		2202	4299	6501	LGR4	SO:0001583	missense	0			-	HGNC	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2042T>C	11.37:g.27390228A>G	ENSP00000368516:p.Leu681Pro	Somatic	0	56	0		0.555890421609159	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.L681P	ENST00000379214.4	37	c.2042	CCDS31449.1	11	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454559	0.63290	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.75260	-0.92;0.94	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.185608	0.48767	D	0.000173	D	0.85991	0.5826	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.87651	0.2528	10	0.87932	D	0	.	15.9971	0.80260	1.0:0.0:0.0:0.0	.	657;681	G5E9B3;Q9BXB1	.;LGR4_HUMAN	P	681;657	ENSP00000368516:L681P;ENSP00000374508:L657P	ENSP00000368516:L681P	L	-	2	0	LGR4	27346804	1.000000	0.71417	0.838000	0.33150	0.743000	0.42351	8.756000	0.91651	2.175000	0.68902	0.528000	0.53228	CTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	protein_coding	OTTHUMT00000257467.1	A	NM_018490	-		27390228	-1	no_errors	ENST00000379214	ensembl	human	known	74_37	missense	SNP	1.000	G	G	27390228	A	G	27390228	3	3	212	1	0	0	0	0	1	0	0	0	8758	72	3	5	817	5	LGR4	11	27390228	Missense_Mutation	SNP	A	TCGA-SI-A71O-01A-12D-A33E-09		27390228	107616288	39	17368											
CCDC81	60494	genome.wustl.edu	37	chr11	86119267	86119267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgagagactcatacaGcagtatcagatgttaaagga	11	5	2	4			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr11:86119267G>T	ENST00000445632.2	+	9	1340	c.1068G>T	c.(1066-1068)caG>caT	p.Q356H	CCDC81_ENST00000354755.1_Missense_Mutation_p.Q266H|CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000278487.3_Intron	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	356										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GACTCATACAGCAGTATCAGA	0.413																																																	0								ENSG00000149201						116	107	110					11																	86119267		2202	4299	6501	CCDC81	SO:0001583	missense	0			-	HGNC	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1068G>T	11.37:g.86119267G>T	ENSP00000415528:p.Gln356His	Somatic	0	34	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP							superfamily_IHF-like_DNA-bd_dom	p.Q356H	ENST00000445632.2	37	c.1068	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344969	0.41498	.	.	ENSG00000149201	ENST00000354755;ENST00000445632	T;T	0.44482	0.92;0.92	5.42	-1.54	0.08584	.	0.361069	0.25789	N	0.028286	T	0.54695	0.1874	M	0.78801	2.425	0.31618	N	0.650622	D;B	0.89917	1.0;0.002	D;B	0.78314	0.991;0.005	T	0.56396	-0.7986	9	.	.	.	-1.4803	4.3271	0.11045	0.2725:0.0:0.3972:0.3303	.	356;266	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	H	266;356	ENSP00000346800:Q266H;ENSP00000415528:Q356H	.	Q	+	3	2	CCDC81	85796915	0.984000	0.35163	0.041000	0.18516	0.357000	0.29423	0.097000	0.15168	-0.613000	0.05694	0.563000	0.77884	CAG	-	NULL		0.413	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	protein_coding	OTTHUMT00000393756.1	G	NM_021827	-		86119267	1	no_errors	ENST00000445632	ensembl	human	known	74_37	missense	SNP	0.196	T	T	86119267	G	T	86119267	3	4	212	1	0	0	0	0	1	0	0	0	2857	962	34	3	1102	3	CCDC81	11	86119267	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	58729039	86119267	48887249	40	17369											
GPR83	10888	genome.wustl.edu	37	chr11	94113534	94113534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctttagctcaatcctgaaGttctcgttcagccagcagta	8	12	3	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr11:94113534G>C	ENST00000243673.2	-	4	1224	c.1053C>G	c.(1051-1053)aaC>aaG	p.N351K	GPR83_ENST00000539203.2_Missense_Mutation_p.N309K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	351					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATCCTGAAGTTCTCGTTCA	0.532																																																	0								ENSG00000123901						163	142	149					11																	94113534		2201	4298	6499	GPR83	SO:0001583	missense	0			-	HGNC	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1053C>G	11.37:g.94113534G>C	ENSP00000243673:p.Asn351Lys	Somatic	0	15	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	2	89.47	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.N351K	ENST00000243673.2	37	c.1053	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906494	0.33628	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.54071	0.59;0.59	5.75	1.78	0.24846	.	0.277603	0.45361	D	0.000374	T	0.38532	0.1044	L	0.42245	1.32	0.44247	D	0.997097	P	0.38020	0.615	B	0.33454	0.164	T	0.08597	-1.0714	10	0.22706	T	0.39	.	11.1818	0.48633	0.3363:0.0:0.6637:0.0	.	351	Q9NYM4	GPR83_HUMAN	K	351;309	ENSP00000243673:N351K;ENSP00000441550:N309K	ENSP00000243673:N351K	N	-	3	2	GPR83	93753182	1.000000	0.71417	0.997000	0.53966	0.282000	0.26991	0.767000	0.26575	0.100000	0.17581	-0.797000	0.03246	AAC	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.532	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	protein_coding	OTTHUMT00000396232.1	G	NM_016540	-		94113534	-1	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	SNP	0.999	C	C	94113534	G	C	94113534	3	2	212	1	0	0	0	0	1	0	0	0	6715	1020	36	4	222	4	GPR83	11	94113534	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	7994267	94113534	40892982	41	17370											
C2CD2L	9854	genome.wustl.edu	37	chr11	118984690	118984690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactctcatcatctctggtGtttccaaggtaacagggctc	9	12	3	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr11:118984690G>T	ENST00000528586.1	+	8	929	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	C2CD2L_ENST00000336702.3_Missense_Mutation_p.V540F			O14523	C2C2L_HUMAN	C2CD2-like	539						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CATCTCTGGTGTTTCCAAGGT	0.602																																																	0								ENSG00000172375						58	58	58					11																	118984690		2200	4295	6495	C2CD2L	SO:0001583	missense	0			-	HGNC	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.859G>T	11.37:g.118984690G>T	ENSP00000433600:p.Val287Phe	Somatic	0	52	0		0.555890421609159	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP							superfamily_C2_dom	p.V540F	ENST00000528586.1	37	c.1618		11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283751	0.80803	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.78246	-1.16;-1.16	5.25	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85388	0.5685	L	0.60455	1.87	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86968	0.2096	10	0.87932	D	0	-5.0121	14.3075	0.66393	0.0:0.0:0.8504:0.1496	.	539;540	O14523;O14523-2	C2C2L_HUMAN;.	F	540;287	ENSP00000338885:V540F;ENSP00000433600:V287F	ENSP00000338885:V540F	V	+	1	0	C2CD2L	118489900	1.000000	0.71417	0.925000	0.36789	0.994000	0.84299	5.993000	0.70616	1.402000	0.46780	0.655000	0.94253	GTT	-	NULL		0.602	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	protein_coding	OTTHUMT00000388199.2	G	NM_014807	-		118984690	1	no_errors	ENST00000336702	ensembl	human	known	74_37	missense	SNP	0.998	T	T	118984690	G	T	118984690	3	4	212	1	0	0	0	0	1	0	0	0	2155	1377	48	3	1664	3	C2CD2L	11	118984690	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	24871156	118984690	16021826	42	17371											
OR10G9	219870	genome.wustl.edu	37	chr11	123893856	123893856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcctcatcctgctggTgatcagggtggattctcacc	10	13	3	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr11:123893856T>C	ENST00000375024.1	+	1	137	c.137T>C	c.(136-138)gTg>gCg	p.V46A		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	46						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCCTGCTGGTGATCAGGGTG	0.567																																																	0								ENSG00000236981						87	80	82					11																	123893856		2201	4295	6496	OR10G9	SO:0001583	missense	0			-	HGNC	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.137T>C	11.37:g.123893856T>C	ENSP00000364164:p.Val46Ala	Somatic	0	76	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	27	60.29		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V46A	ENST00000375024.1	37	c.137	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	T	5.004	0.186447	0.09495	.	.	ENSG00000236981	ENST00000375024	T	0.01126	5.3	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000479	T	0.00754	0.0025	N	0.05487	-0.04	0.09310	N	1	B	0.09022	0.002	B	0.18263	0.021	T	0.49428	-0.8941	10	0.33940	T	0.23	.	6.0061	0.19547	0.0:0.1762:0.0:0.8238	.	46	Q8NGN4	O10G9_HUMAN	A	46	ENSP00000364164:V46A	ENSP00000364164:V46A	V	+	2	0	OR10G9	123399066	0.001000	0.12720	0.995000	0.50966	0.988000	0.76386	0.932000	0.28884	1.512000	0.48834	0.533000	0.62120	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	protein_coding	OTTHUMT00000387269.1	T	NM_001001953	-		123893856	1	no_errors	ENST00000375024	ensembl	human	known	74_37	missense	SNP	0.038	C	C	123893856	T	C	123893856	3	2	212	1	0	0	0	0	1	0	0	0	10906	1696	59	5	139	5	OR10G9	11	123893856	Missense_Mutation	SNP	T	TCGA-SI-A71O-01A-12D-A33E-09	4909166	123893856	11112660	43	17372											
KIF21A	55605	genome.wustl.edu	37	chr12	39740286	39740286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttctttcttctcgattgCtttcctcaagtttctgtagc	5	12	5	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr12:39740286C>A	ENST00000361418.5	-	12	1709	c.1694G>T	c.(1693-1695)aGc>aTc	p.S565I	KIF21A_ENST00000395670.3_Missense_Mutation_p.S565I|KIF21A_ENST00000361961.3_Intron|KIF21A_ENST00000544797.2_Intron|KIF21A_ENST00000541463.2_Intron			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	565					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTCGATTGCTTTCCTCAAG	0.363																																																	0								ENSG00000139116																																			KIF21A	SO:0001583	missense	0			-	HGNC	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1694G>T	12.37:g.39740286C>A	ENSP00000354878:p.Ser565Ile	Somatic	0	70	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	130	21.08	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S565I	ENST00000361418.5	37	c.1694	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244361	0.39697	.	.	ENSG00000139116	ENST00000395670;ENST00000341813;ENST00000361418	T;T	0.70045	-0.45;-0.41	5.42	5.42	0.78866	.	.	.	.	.	T	0.51770	0.1694	N	0.22421	0.69	0.38924	D	0.957795	P	0.44578	0.838	B	0.35413	0.202	T	0.59590	-0.7426	9	0.42905	T	0.14	.	17.4003	0.87458	0.0:1.0:0.0:0.0	.	565	Q7Z4S6	KI21A_HUMAN	I	565	ENSP00000379029:S565I;ENSP00000354878:S565I	ENSP00000344501:S565I	S	-	2	0	KIF21A	38026553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.975000	0.49281	2.542000	0.85734	0.655000	0.94253	AGC	-	superfamily_ARM-type_fold		0.363	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	C	NM_017641	-		39740286	-1	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39740286	C	A	39740286	3	1	212	1	0	0	0	0	1	0	0	0	8290	797	28	3	3438	3	KIF21A	12	39740286	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09		39740286	94111609	44	17373											
DIP2B	57609	genome.wustl.edu	37	chr12	51121576	51121576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagtgtctccacaactgGcatgcttacaggagtgaagg	11	8	1	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr12:51121576G>A	ENST00000301180.5	+	29	3525	c.3491G>A	c.(3490-3492)gGc>gAc	p.G1164D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1164						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCCACAACTGGCATGCTTACA	0.458																																																	0								ENSG00000066084						167	160	163					12																	51121576		2203	4300	6503	DIP2B	SO:0001583	missense	0			-	HGNC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3491G>A	12.37:g.51121576G>A	ENSP00000301180:p.Gly1164Asp	Somatic	0	32	0		0.555890421609159	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.G1164D	ENST00000301180.5	37	c.3491	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689969	0.88735	.	.	ENSG00000066084	ENST00000301180	T	0.67865	-0.29	4.27	4.27	0.50696	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85933	0.1453	10	0.72032	D	0.01	-13.2736	18.006	0.89209	0.0:0.0:1.0:0.0	.	1164	Q9P265	DIP2B_HUMAN	D	1164	ENSP00000301180:G1164D	ENSP00000301180:G1164D	G	+	2	0	DIP2B	49407843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.668000	0.90789	0.655000	0.94253	GGC	-	pfam_AMP-dep_Synth/Lig		0.458	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	protein_coding	OTTHUMT00000404243.1	G	NM_173602	-		51121576	1	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51121576	G	A	51121576	3	1	212	1	0	0	0	0	1	0	0	0	4530	1203	42	2	3605	2	DIP2B	12	51121576	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	11381290	51121576	82730319	45	17374											
KRT4	3851	genome.wustl.edu	37	chr12	53205597	53205597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcttcagctcagactgCaggcgccctttgtcattgcc	10	13	4	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr12:53205597C>T	ENST00000551956.1	-	2	1119	c.627G>A	c.(625-627)ctG>ctA	p.L209L	KRT4_ENST00000458244.2_Silent_p.L189L|KRT4_ENST00000293774.4_Silent_p.L283L			P19013	K2C4_HUMAN	keratin 4	223	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTCAGACTGCAGGCGCCCTT	0.562																																					Pancreas(190;284 2995 41444 45903)												0								ENSG00000170477						103	106	105					12																	53205597		2050	4211	6261	KRT4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.627G>A	12.37:g.53205597C>T		Somatic	0	47	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L283	ENST00000551956.1	37	c.849	CCDS41787.2	12																																																																																			-	pfam_IF		0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	protein_coding	OTTHUMT00000405931.1	C	NM_002272	-		53205597	-1	no_errors	ENST00000293774	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53205597	C	T	53205597	2	4	212	1	0	0	0	0	0	0	0	1	8479	697	25	2		2	KRT4	12	53205597	Silent	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	2084021	53205597	80646298	46	17375											
BAZ2A	11176	genome.wustl.edu	37	chr12	57011279	57011279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagcaggtgcagggggAaggccagtaaagttaaaatg	17	5	0	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr12:57011279A>G	ENST00000551812.1	-	2	235	c.42T>C	c.(40-42)ctT>ctC	p.L14L	BAZ2A_ENST00000379441.3_Silent_p.L14L|BAZ2A_ENST00000179765.5_Silent_p.L12L|BAZ2A_ENST00000549884.1_Silent_p.L12L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	14					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGCAGGGGGAAGGCCAGTAA	0.522																																																	0								ENSG00000076108						42	46	44					12																	57011279		1943	4141	6084	BAZ2A	SO:0001819	synonymous_variant	0			-	HGNC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.42T>C	12.37:g.57011279A>G		Somatic	0	57	0		0.555890421609159	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP							pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L14	ENST00000551812.1	37	c.42	CCDS44924.1	12																																																																																			-	NULL		0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	A	NM_013449	-		57011279	-1	no_errors	ENST00000551812	ensembl	human	known	74_37	silent	SNP	1.000	G	G	57011279	A	G	57011279	2	3	212	1	0	0	0	0	0	0	0	1	1331	233	9	5		5	BAZ2A	12	57011279	Silent	SNP	A	TCGA-SI-A71O-01A-12D-A33E-09	3805682	57011279	76840616	47	17376											
ATP2A2	488	genome.wustl.edu	37	chr12	110719652	110719652	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggccacttcggcgtcaacGagagtacggggctgagcctg	16	11	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr12:110719652G>T	ENST00000539276.2	+	1	167	c.58G>T	c.(58-60)Gag>Tag	p.E20*	ATP2A2_ENST00000395494.2_Nonsense_Mutation_p.E20*|ATP2A2_ENST00000308664.6_Nonsense_Mutation_p.E20*|ATP2A2_ENST00000552636.1_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	20					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						CGGCGTCAACGAGAGTACGGG	0.706																																																	0								ENSG00000174437						69	56	60					12																	110719652		2191	4296	6487	ATP2A2	SO:0001587	stop_gained	0			-	HGNC		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.58G>T	12.37:g.110719652G>T	ENSP00000440045:p.Glu20*	Somatic	0	43	0		0.555890421609159	109	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A6NDN7|B4DF05|P16614|Q86VJ2	Nonsense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.E20*	ENST00000539276.2	37	c.58	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.701271	0.99453	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	.	.	.	5.14	3.28	0.37604	.	0.121675	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	10.1806	0.42965	0.0747:0.1379:0.7874:0.0	.	.	.	.	X	20	.	ENSP00000311186:E20X	E	+	1	0	ATP2A2	109204035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.380000	0.79704	1.151000	0.42436	0.561000	0.74099	GAG	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N		0.706	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	protein_coding	OTTHUMT00000403539.1	G	NM_001681	-		110719652	1	no_errors	ENST00000539276	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	110719652	G	T	110719652	4	4	212	1	0	0	0	0	0	1	0	0	1137	1059	37	3	60	3	ATP2A2	12	110719652	Nonsense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	53708373	110719652	23132243	48	17377											
NCOR2	9612	genome.wustl.edu	37	chr12	124911219	124911219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacatgttcatgacctggCggtctttgtacaccttcatg	8	12	3	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr12:124911219C>T	ENST00000405201.1	-	11	1277	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	NCOR2_ENST00000356219.3_Missense_Mutation_p.R426H|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.R426H|NCOR2_ENST00000404621.1_Missense_Mutation_p.R425H|NCOR2_ENST00000429285.2_Missense_Mutation_p.R425H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	426					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATGACCTGGCGGTCTTTGTA	0.607																																																	0								ENSG00000196498						89	96	94					12																	124911219		2088	4209	6297	NCOR2	SO:0001583	missense	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1277G>A	12.37:g.124911219C>T	ENSP00000384018:p.Arg426His	Somatic	0	26	0		0.555890421609159	152	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R426H	ENST00000405201.1	37	c.1277	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	c	17.64	3.439013	0.63067	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.07	5.07	0.68467	.	0.129222	0.52532	D	0.000072	D	0.89901	0.6849	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.90778	0.4677	10	0.87932	D	0	-36.8489	18.8326	0.92145	0.0:1.0:0.0:0.0	.	425;426;426	C9J0Q5;C9J239;C9JFD3	.;.;.	H	426;425;426;426;426;425;426;426	ENSP00000384018:R426H;ENSP00000384202:R425H;ENSP00000348551:R426H;ENSP00000380513:R426H;ENSP00000400281:R425H;ENSP00000402808:R426H;ENSP00000405367:R426H	ENSP00000348551:R426H	R	-	2	0	NCOR2	123477172	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.795000	0.85887	2.533000	0.85409	0.556000	0.70494	CGC	-	superfamily_Homeodomain-like		0.607	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	C	NM_006312	-		124911219	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124911219	C	T	124911219	3	4	212	1	0	0	0	0	1	0	0	0	10238	768	27	1	6439	1	NCOR2	12	124911219	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	14191567	124911219	8940676	49	17378											
SACS	26278	genome.wustl.edu	37	chr13	23911370	23911370	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggttttgtcagaaatggaagGaagcggattgtttgatattt	13	2	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr13:23911370G>C	ENST00000382292.3	-	9	6918	c.6645C>G	c.(6643-6645)ttC>ttG	p.F2215L	SACS_ENST00000382298.3_Missense_Mutation_p.F2215L|SACS_ENST00000402364.1_Missense_Mutation_p.F1465L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2215					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)		GAAATGGAAGGAAGCGGATTG	0.388																																																	0								ENSG00000151835						56	57	57					13																	23911370		2203	4299	6502	SACS	SO:0001583	missense	0			-	HGNC	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.6645C>G	13.37:g.23911370G>C	ENSP00000371729:p.Phe2215Leu	Somatic	0	40	0		0.555890421609159	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	28	46.15	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.F2215L	ENST00000382292.3	37	c.6645	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016836	0.35606	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.91124	-2.66;-2.79;-2.66	5.93	0.0973	0.14493	.	0.000000	0.85682	D	0.000000	D	0.87633	0.6226	M	0.61703	1.905	0.37045	D	0.897301	B	0.21381	0.055	B	0.23419	0.046	T	0.82402	-0.0475	10	0.59425	D	0.04	.	11.8631	0.52478	0.4879:0.0:0.5121:0.0	.	2215	Q9NZJ4	SACS_HUMAN	L	2215;1465;2215	ENSP00000371729:F2215L;ENSP00000385844:F1465L;ENSP00000371735:F2215L	ENSP00000371729:F2215L	F	-	3	2	SACS	22809370	0.997000	0.39634	0.995000	0.50966	0.982000	0.71751	0.330000	0.19715	-0.076000	0.12775	0.650000	0.86243	TTC	-	NULL		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	G	NM_014363	-		23911370	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	SNP	0.975	C	C	23911370	G	C	23911370	3	2	212	1	0	0	0	0	1	0	0	0	13812	1165	41	4	7098	4	SACS	13	23911370	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		23911370	91258508	50	17379											
RCBTB1	55213	genome.wustl.edu	37	chr13	50123666	50123666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggtgcaggagaagtGggtgaggtgcgggaggatca	21	5	1	2	rs200826424		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr13:50123666G>T	ENST00000378302.2	-	9	1233	c.973C>A	c.(973-975)Cac>Aac	p.H325N	RCBTB1_ENST00000546015.1_Missense_Mutation_p.H325N|RCBTB1_ENST00000258646.3_Missense_Mutation_p.H325N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	325					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CAGGAGAAGTGGGTGAGGTGC	0.647																																																	0								ENSG00000136144						94	69	78					13																	50123666		2203	4300	6503	RCBTB1	SO:0001583	missense	0			-	HGNC	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.973C>A	13.37:g.50123666G>T	ENSP00000367552:p.His325Asn	Somatic	0	68	0		0.555890421609159	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q8IY29|Q969U9	Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.H325N	ENST00000378302.2	37	c.973	CCDS9418.1	13	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802263	0.70682	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.39229	1.31;1.31;1.09	5.15	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.61703	1.905	0.53688	D	0.999974	B	0.17268	0.021	B	0.18561	0.022	T	0.27262	-1.0079	10	0.08381	T	0.77	-5.4607	15.0288	0.71691	0.0:0.0:0.8566:0.1434	.	325	Q8NDN9	RCBT1_HUMAN	N	325	ENSP00000258646:H325N;ENSP00000367552:H325N;ENSP00000443293:H325N	ENSP00000258646:H325N	H	-	1	0	RCBTB1	49021667	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	7.630000	0.83225	1.138000	0.42230	0.462000	0.41574	CAC	-	NULL		0.647	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB1	protein_coding	OTTHUMT00000044912.2	G	NM_018191	-		50123666	-1	no_errors	ENST00000258646	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50123666	G	T	50123666	3	4	212	1	0	0	0	0	1	0	0	0	13179	1348	47	3	642	3	RCBTB1	13	50123666	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	26212296	50123666	65046212	51	17380											
DACT1	51339	genome.wustl.edu	37	chr14	59113290	59113290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaggcccgcgggcggggGccacagggcggggagcaggg	24	12	0	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr14:59113290G>A	ENST00000335867.4	+	4	1973	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	DACT1_ENST00000556859.1_Missense_Mutation_p.G369D|DACT1_ENST00000395153.3_Missense_Mutation_p.G613D|DACT1_ENST00000541264.2_Missense_Mutation_p.G369D			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	650					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGGGCGGGGGCCACAGGGCG	0.667																																																	0								ENSG00000165617						6	6	6					14																	59113290		2118	4117	6235	DACT1	SO:0001583	missense	0			-	HGNC	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1949G>A	14.37:g.59113290G>A	ENSP00000337439:p.Gly650Asp	Somatic	1	151	0.66		0.555890421609159	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	107	12.20	A8MYJ2|Q86TY0	Missense_Mutation	SNP							NULL	p.G650D	ENST00000335867.4	37	c.1949	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	G	8.555	0.876345	0.17395	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.8	1.63	0.23807	.	0.879811	0.09918	N	0.738827	T	0.44138	0.1279	L	0.56769	1.78	0.09310	N	1	P;P	0.49090	0.634;0.919	B;P	0.46275	0.165;0.51	T	0.38001	-0.9681	10	0.54805	T	0.06	-11.3579	2.2448	0.04029	0.1036:0.1706:0.4473:0.2785	.	613;650	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	D	369;369;613;650;369	ENSP00000451598:G369D;ENSP00000378581:G369D;ENSP00000378582:G613D;ENSP00000337439:G650D;ENSP00000442850:G369D	ENSP00000337439:G650D	G	+	2	0	DACT1	58183043	0.002000	0.14202	0.013000	0.15412	0.152000	0.21847	0.826000	0.27407	0.587000	0.29643	0.563000	0.77884	GGC	-	NULL		0.667	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	G	NM_016651	-		59113290	1	no_errors	ENST00000335867	ensembl	human	known	74_37	missense	SNP	0.002	A	A	59113290	G	A	59113290	3	1	212	1	0	0	0	0	1	0	0	0	4224	1203	42	2	1963	2	DACT1	14	59113290	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		59113290	48236250	52	17381											
PLEKHH1	57475	genome.wustl.edu	37	chr14	68029200	68029200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttcagcttcctggggtgaGggtctggttactgctcagag	15	8	3	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr14:68029200G>T	ENST00000329153.5	+	7	984	c.852G>T	c.(850-852)gaG>gaT	p.E284D		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	284						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)		CCTGGGGTGAGGGTCTGGTTA	0.582																																																	0								ENSG00000054690						59	69	66					14																	68029200		1954	4153	6107	PLEKHH1	SO:0001583	missense	0			-	HGNC	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.852G>T	14.37:g.68029200G>T	ENSP00000330278:p.Glu284Asp	Somatic	0	35	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E284D	ENST00000329153.5	37	c.852	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623445	0.14193	.	.	ENSG00000054690	ENST00000329153	T	0.72835	-0.69	5.08	-1.78	0.07957	.	0.651971	0.16492	N	0.212056	T	0.56978	0.2022	L	0.57536	1.79	0.25080	N	0.990933	B	0.09022	0.002	B	0.06405	0.002	T	0.40572	-0.9556	10	0.23891	T	0.37	.	5.0247	0.14379	0.4771:0.1551:0.3678:0.0	.	284	Q9ULM0	PKHH1_HUMAN	D	284	ENSP00000330278:E284D	ENSP00000330278:E284D	E	+	3	2	PLEKHH1	67098953	0.001000	0.12720	0.535000	0.28026	0.129000	0.20672	-0.480000	0.06559	-0.190000	0.10465	0.491000	0.48974	GAG	-	NULL		0.582	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	protein_coding	OTTHUMT00000412730.3	G	XM_031054	-		68029200	1	no_errors	ENST00000329153	ensembl	human	known	74_37	missense	SNP	0.071	T	T	68029200	G	T	68029200	3	4	212	1	0	0	0	0	1	0	0	0	12078	991	35	3	874	3	PLEKHH1	14	68029200	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	8915910	68029200	39320340	53	17382											
EML5	161436	genome.wustl.edu	37	chr14	89212617	89212617	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctttgaatcaagtccaactGaaaccaagcgctgatttatg	7	9	2	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr14:89212617G>A	ENST00000380664.5	-	3	367	c.368C>T	c.(367-369)tCa>tTa	p.S123L	EML5_ENST00000554922.1_Missense_Mutation_p.S123L|EML5_ENST00000352093.5_Missense_Mutation_p.S123L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	123						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTCCAACTGAAACCAAGCG	0.368																																																	0								ENSG00000165521						124	113	116					14																	89212617		1840	4085	5925	EML5	SO:0001583	missense	0			-	HGNC	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.368C>T	14.37:g.89212617G>A	ENSP00000370039:p.Ser123Leu	Somatic	0	27	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S123L	ENST00000380664.5	37	c.368	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.179757	0.94846	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01584	4.75;4.75;4.75	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.13841	0.0335	H	0.98111	4.15	0.80722	D	1	P	0.46142	0.873	P	0.47941	0.562	T	0.16276	-1.0408	10	0.72032	D	0.01	-10.3827	19.6102	0.95602	0.0:0.0:1.0:0.0	.	123	Q05BV3	EMAL5_HUMAN	L	123	ENSP00000451998:S123L;ENSP00000298315:S123L;ENSP00000370039:S123L	ENSP00000298315:S123L	S	-	2	0	EML5	88282370	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.630000	0.89119	0.563000	0.77884	TCA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	protein_coding	OTTHUMT00000410491.1	G		-		89212617	-1	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89212617	G	A	89212617	3	1	212	1	0	0	0	0	1	0	0	0	5102	1294	45	2	5729	2	EML5	14	89212617	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	21183417	89212617	18136923	54	17383											
FOXN3	1112	genome.wustl.edu	37	chr14	89628792	89628792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccttttgctctttctgcCcctttgccgtccgattggtg	8	13	2	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr14:89628792C>T	ENST00000345097.4	-	7	1555	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E	FOXN3_ENST00000555353.1_Missense_Mutation_p.G458E|FOXN3_ENST00000557258.1_Missense_Mutation_p.G458E|FOXN3_ENST00000261302.5_Missense_Mutation_p.G480E	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	480					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTTTCTGCCCCTTTGCCGT	0.443																																																	0								ENSG00000053254						64	65	65					14																	89628792		2203	4300	6503	FOXN3	SO:0001583	missense	0			-	HGNC		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1439G>A	14.37:g.89628792C>T	ENSP00000343288:p.Gly480Glu	Somatic	0	43	0		0.555890421609159	52	16.13	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q96II7|Q9UIE7	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G480E	ENST00000345097.4	37	c.1439	CCDS41977.1	14	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284854	0.80803	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.974	T	0.77086	-0.2718	10	0.66056	D	0.02	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	480;458	O00409;O00409-2	FOXN3_HUMAN;.	E	480;480;458;458	ENSP00000343288:G480E;ENSP00000261302:G480E;ENSP00000452005:G458E;ENSP00000452227:G458E	ENSP00000261302:G480E	G	-	2	0	FOXN3	88698545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.907000	0.69908	2.824000	0.97209	0.655000	0.94253	GGG	-	NULL		0.443	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	protein_coding	OTTHUMT00000410902.2	C	NM_005197	-		89628792	-1	no_errors	ENST00000261302	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89628792	C	T	89628792	3	4	212	1	0	0	0	0	1	0	0	0	6023	623	22	2	37	2	FOXN3	14	89628792	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	416175	89628792	17720748	55	17384											
BAG5	9529	genome.wustl.edu	37	chr14	104027121	104027121	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcctcagaatgatatcttgGatgccttcttcaaactcatc	6	11	5	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr14:104027121G>T	ENST00000445922.2	-	2	627	c.381C>A	c.(379-381)atC>atA	p.I127I	RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000299204.4_Silent_p.I127I|BAG5_ENST00000337322.4_Silent_p.I168I|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000556253.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	127	BAG 2. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGATATCTTGGATGCCTTCTT	0.423																																					NSCLC(171;1832 2055 18950 31566 41632)												0								ENSG00000166170						125	122	123					14																	104027121		2203	4300	6503	BAG5	SO:0001819	synonymous_variant	0			-	HGNC	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.381C>A	14.37:g.104027121G>T		Somatic	0	51	0		0.555890421609159	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O94950|Q86W59	Silent	SNP							pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.I168	ENST00000445922.2	37	c.504	CCDS9982.1	14																																																																																			-	NULL		0.423	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG5	protein_coding	OTTHUMT00000414990.1	G		-		104027121	-1	no_errors	ENST00000337322	ensembl	human	known	74_37	silent	SNP	0.998	T	T	104027121	G	T	104027121	2	4	212	1	0	0	0	0	0	0	0	1	1290	1164	41	3		3	BAG5	14	104027121	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	14398329	104027121	3322419	56	17385											
HDC	3067	genome.wustl.edu	37	chr15	50546363	50546363	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccccgctgcttgtcttcctcGatggccttctgaagagcttc	9	15	2	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr15:50546363G>T	ENST00000267845.3	-	6	1086	c.684C>A	c.(682-684)atC>atA	p.I228I	HDC_ENST00000543581.1_Silent_p.I228I	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.I228M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TGTCTTCCTCGATGGCCTTCT	0.478																																					GBM(95;1627 1936 6910 9570)												1	Substitution - Missense(1)	lung(1)						ENSG00000140287						70	66	68					15																	50546363		2196	4295	6491	HDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.684C>A	15.37:g.50546363G>T		Somatic	0	63	0		0.555890421609159	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11		Silent	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.I228	ENST00000267845.3	37	c.684	CCDS10134.1	15																																																																																			-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.478	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	G		-		50546363	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	silent	SNP	0.443	T	T	50546363	G	T	50546363	2	4	212	1	0	0	0	0	0	0	0	1	7017	1048	37	3		3	HDC	15	50546363	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		50546363	51985029	57	17386											
RGMA	56963	genome.wustl.edu	37	chr15	93595268	93595268	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcagcacaggcgtgttGgtgacctgcacgttcaggta	15	11	1	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr15:93595268G>T	ENST00000329082.7	-	3	871	c.600C>A	c.(598-600)acC>acA	p.T200T	RGMA_ENST00000425933.2_Silent_p.T184T|RGMA_ENST00000538818.1_Silent_p.T91T|RGMA_ENST00000556087.1_Silent_p.T184T|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000543599.1_Silent_p.T184T|RGMA_ENST00000557301.1_Silent_p.T208T|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000542321.2_Silent_p.T184T|RGMA_ENST00000556658.1_Silent_p.T91T	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	200					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CAGGCGTGTTGGTGACCTGCA	0.647																																																	0								ENSG00000182175						33	38	36					15																	93595268		2083	4220	6303	RGMA	SO:0001819	synonymous_variant	0			-	HGNC	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.600C>A	15.37:g.93595268G>T		Somatic	0	63	0		0.555890421609159	14	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP							pfam_RGM_N,pfam_RGM_C	p.T200	ENST00000329082.7	37	c.600	CCDS45357.1	15																																																																																			-	pfam_RGM_N		0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	protein_coding	OTTHUMT00000415091.1	G	NM_020211	-		93595268	-1	no_errors	ENST00000329082	ensembl	human	known	74_37	silent	SNP	1.000	T	T	93595268	G	T	93595268	2	4	212	1	0	0	0	0	0	0	0	1	13288	1335	47	3		3	RGMA	15	93595268	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	43048905	93595268	8936124	58	17387											
SLC25A39	51629	genome.wustl.edu	37	chr17	42397786	42397786	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttaccacgtcaaagggtaGagtcagcactgcagccacct	9	13	2	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr17:42397786G>T	ENST00000377095.5	-	10	939	c.820C>A	c.(820-822)Cta>Ata	p.L274I	SLC25A39_ENST00000225308.8_Missense_Mutation_p.L266I|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L142I|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L251I|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L266I	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	274					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAAAGGGTAGAGTCAGCACT	0.657																																																	0								ENSG00000013306						39	39	39					17																	42397786		2203	4300	6503	SLC25A39	SO:0001583	missense	0			-	HGNC	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.820C>A	17.37:g.42397786G>T	ENSP00000366299:p.Leu274Ile	Somatic	0	70	0		0.555890421609159	479	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L274I	ENST00000377095.5	37	c.820	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724212	0.48728	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78595	-1.19;-1.19;-1.19	5.14	3.05	0.35203	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000003	T	0.80633	0.4660	L	0.46885	1.475	0.48236	D	0.999613	P;D;P	0.89917	0.77;1.0;0.728	P;D;B	0.80764	0.463;0.994;0.333	T	0.75221	-0.3394	10	0.24483	T	0.36	-17.544	8.5324	0.33342	0.2668:0.0:0.7332:0.0	.	251;274;266	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	I	266;274;251	ENSP00000225308:L266I;ENSP00000366299:L274I;ENSP00000444540:L251I	ENSP00000225308:L266I	L	-	1	2	SLC25A39	39753312	0.884000	0.30299	0.680000	0.29994	0.617000	0.37484	1.294000	0.33365	0.673000	0.31224	-0.345000	0.07892	CTA	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.657	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	protein_coding	OTTHUMT00000457745.1	G	NM_016016	-		42397786	-1	no_errors	ENST00000377095	ensembl	human	known	74_37	missense	SNP	0.774	T	T	42397786	G	T	42397786	3	4	212	1	0	0	0	0	1	0	0	0	14511	933	33	3	271	3	SLC25A39	17	42397786	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		42397786	38797424	59	17388											
BZRAP1	9256	genome.wustl.edu	37	chr17	56393418	56393418	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctcatccatgttgccataGatgtagatgtactcgccagc	8	12	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr17:56393418G>T	ENST00000343736.4	-	16	2227	c.2064C>A	c.(2062-2064)atC>atA	p.I688I	BZRAP1_ENST00000268893.6_Silent_p.I628I|BZRAP1_ENST00000355701.3_Silent_p.I688I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	688	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTTGCCATAGATGTAGATGT	0.522																																																	0								ENSG00000005379						211	178	189					17																	56393418		2203	4300	6503	BZRAP1	SO:0001819	synonymous_variant	0			-	HGNC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2064C>A	17.37:g.56393418G>T		Somatic	0	37	0		0.555890421609159	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	O75111|Q8N5W3	Silent	SNP							pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.I688	ENST00000343736.4	37	c.2064	CCDS11605.1	17																																																																																			-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.522	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	protein_coding	OTTHUMT00000443980.1	G	NM_004758	-		56393418	-1	no_errors	ENST00000355701	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56393418	G	T	56393418	2	4	212	1	0	0	0	0	0	0	0	1	1579	932	33	3		3	BZRAP1	17	56393418	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	13995632	56393418	24801792	60	17389											
KCNH6	81033	genome.wustl.edu	37	chr17	61619796	61619796	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttcaacctgcgggacGtgagtcagggccaggtgggc	15	12	3	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr17:61619796G>A	ENST00000583023.1	+	9	2159		c.e9+1		KCNH6_ENST00000581784.1_Splice_Site|KCNH6_ENST00000314672.5_Splice_Site|KCNH6_ENST00000456941.2_Splice_Site	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6						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)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTGCGGGACGTGAGTCAGGG	0.622																																																	0								ENSG00000173826						70	61	64					17																	61619796		2203	4300	6503	KCNH6	SO:0001630	splice_region_variant	0			-	HGNC	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2148+1G>A	17.37:g.61619796G>A		Somatic	0	45	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	Q9BRD7	Splice_Site	SNP							-	e9+1	ENST00000583023.1	37	c.2148+1	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194766	0.78902	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9667	0.89101	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH6	58973528	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.062000	0.89475	2.213000	0.71641	0.563000	0.77884	.	-	-		0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	protein_coding	OTTHUMT00000443853.1	G	NM_030779	-	Intron	61619796	1	no_errors	ENST00000583023	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	61619796	G	A	61619796	5	1	212	1	0	0	0	0	0	0	1	0	8038	1159	40	1	2183	1	KCNH6	17	61619796	Splice_Site	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	5226378	61619796	19575414	61	17390											
SALL3	27164	genome.wustl.edu	37	chr18	76753242	76753242	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccagcgccgaggacccgttCttcaagcacaaatgccgctt	10	15	2	0	rs200930481		TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr18:76753242C>A	ENST00000537592.2	+	2	1251	c.1251C>A	c.(1249-1251)ttC>ttA	p.F417L	SALL3_ENST00000575389.2_Missense_Mutation_p.F417L|SALL3_ENST00000536229.3_Missense_Mutation_p.F284L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	417					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGGACCCGTTCTTCAAGCACA	0.647																																																	0								ENSG00000256463						27	20	22					18																	76753242		2202	4294	6496	SALL3	SO:0001583	missense	0			-	HGNC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1251C>A	18.37:g.76753242C>A	ENSP00000441823:p.Phe417Leu	Somatic	0	27	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q9UGH1	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F417L	ENST00000537592.2	37	c.1251	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	9.223	1.033978	0.19590	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09723	2.95	4.54	1.5	0.22942	.	0.000000	0.64402	D	0.000018	T	0.11153	0.0272	L	0.42245	1.32	0.54753	D	0.99998	P;B	0.40794	0.729;0.039	B;B	0.43225	0.412;0.082	T	0.07908	-1.0748	10	0.44086	T	0.13	-36.0439	9.2624	0.37621	0.0:0.6537:0.0:0.3463	.	149;417	F5GXY4;Q9BXA9	.;SALL3_HUMAN	L	417;417;149	ENSP00000441823:F417L	ENSP00000299466:F417L	F	+	3	2	SALL3	74854230	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	1.252000	0.32874	0.188000	0.20168	-1.628000	0.00784	TTC	-	NULL		0.647	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	C	NM_171999	-		76753242	1	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	SNP	1.000	A	A	76753242	C	A	76753242	3	1	212	1	0	0	0	0	1	0	0	0	13820	912	32	3	1257	3	SALL3	18	76753242	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09		76753242	1324006	62	17391											
MCOLN1	57192	genome.wustl.edu	37	chr19	7591462	7591462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctacacgcgggagcagctGtaccaggccatcttccatgc	11	15	1	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr19:7591462G>A	ENST00000264079.6	+	3	500	c.375G>A	c.(373-375)ctG>ctA	p.L125L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	125					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGAGCAGCTGTACCAGGCCA	0.662																																																	0								ENSG00000090674						113	93	100					19																	7591462		2203	4300	6503	MCOLN1	SO:0001819	synonymous_variant	0			-	HGNC	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.375G>A	19.37:g.7591462G>A		Somatic	0	35	0		0.555890421609159	185	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP							pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.L125	ENST00000264079.6	37	c.375	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460919	0.43736	.	.	ENSG00000090674	ENST00000394321	.	.	.	5.48	-4.16	0.03869	.	.	.	.	.	T	0.27134	0.0665	.	.	.	0.22050	N	0.999392	B	0.06786	0.001	B	0.04013	0.001	T	0.34403	-0.9830	7	0.87932	D	0	.	6.3879	0.21572	0.2061:0.3031:0.426:0.0647	.	12	Q9GZU1-2	.	Y	12	.	ENSP00000377856:C12Y	C	+	2	0	MCOLN1	7497462	0.000000	0.05858	0.967000	0.41034	0.937000	0.57800	-2.331000	0.01110	-0.518000	0.06452	-1.291000	0.01355	TGT	-	NULL		0.662	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	protein_coding	OTTHUMT00000458974.2	G	NM_020533	-		7591462	1	no_errors	ENST00000264079	ensembl	human	known	74_37	silent	SNP	0.969	A	A	7591462	G	A	7591462	2	1	212	1	0	0	0	0	0	0	0	1	9397	1364	48	2		2	MCOLN1	19	7591462	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		7591462	51537521	63	17392											
ZNF101	94039	genome.wustl.edu	37	chr19	19790091	19790091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaacaagaaaagtcaaactgGagtgaaaccatgcaaatgca	9	7	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr19:19790091G>T	ENST00000592502.1	+	4	403	c.293G>T	c.(292-294)gGa>gTa	p.G98V	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	98					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(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGTCAAACTGGAGTGAAACCA	0.473																																																	0								ENSG00000181896						101	85	91					19																	19790091		2203	4300	6503	ZNF101	SO:0001583	missense	0			-	HGNC	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.293G>T	19.37:g.19790091G>T	ENSP00000468049:p.Gly98Val	Somatic	0	28	0		0.555890421609159	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	C9JU83|Q0VDG9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G98V	ENST00000592502.1	37	c.293	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858619	0.51376	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	T	0.21734	1.99	0.235	0.235	0.15431	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32346	0.0826	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.09975	-1.0650	9	0.62326	D	0.03	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	98	Q8IZC7	ZN101_HUMAN	V	98	ENSP00000319716:G98V	ENSP00000319716:G98V	G	+	2	0	ZNF101	19651091	0.978000	0.34361	0.454000	0.27019	0.460000	0.32559	2.309000	0.43699	0.308000	0.22923	0.313000	0.20887	GGA	-	NULL		0.473	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	protein_coding	OTTHUMT00000460559.1	G	NM_033204	-		19790091	1	no_errors	ENST00000318110	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19790091	G	T	19790091	3	4	212	1	0	0	0	0	1	0	0	0	17721	1174	41	3	307	3	ZNF101	19	19790091	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	12198629	19790091	39338892	64	17393											
ZNF181	339318	genome.wustl.edu	37	chr19	35232821	35232821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtacatcagagaattcacaCtggagaaaagccatataaat	7	8	2	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr19:35232821C>A	ENST00000492450.1	+	4	1624	c.1535C>A	c.(1534-1536)aCt>aAt	p.T512N	ZNF181_ENST00000459757.2_Missense_Mutation_p.T511N|ZNF181_ENST00000392232.3_Missense_Mutation_p.T556N			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	512					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAATTCACACTGGAGAAAAG	0.383																																																	0								ENSG00000197841						58	64	62					19																	35232821		2203	4300	6503	ZNF181	SO:0001583	missense	0			-	HGNC	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1535C>A	19.37:g.35232821C>A	ENSP00000420727:p.Thr512Asn	Somatic	0	116	0		0.555890421609159	11	35.29	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	B7ZKX3|Q49A75	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T556N	ENST00000492450.1	37	c.1667	CCDS32990.2	19	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354025	0.61293	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	T;T;T	0.26067	1.76;1.76;1.76	2.72	2.72	0.32119	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.71920	2.185	0.34271	D	0.681017	P;P	0.49358	0.923;0.923	P;P	0.55965	0.788;0.788	T	0.60505	-0.7250	9	0.87932	D	0	.	11.6139	0.51078	0.0:1.0:0.0:0.0	.	511;512	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	N	556;512;511	ENSP00000376065:T556N;ENSP00000420727:T512N;ENSP00000419435:T511N	ENSP00000376065:T556N	T	+	2	0	ZNF181	39924661	0.438000	0.25602	1.000000	0.80357	0.996000	0.88848	0.982000	0.29539	1.839000	0.53478	0.655000	0.94253	ACT	-	smart_Znf_BED_prd,pfscan_Znf_C2H2		0.383	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	protein_coding	OTTHUMT00000349005.3	C	NM_001029997	-		35232821	1	no_errors	ENST00000392232	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35232821	C	A	35232821	3	1	212	1	0	0	0	0	1	0	0	0	17756	565	20	3	1549	3	ZNF181	19	35232821	Missense_Mutation	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	15442730	35232821	23896162	65	17394											
SCN1B	6324	genome.wustl.edu	37	chr19	35524582	35524582	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctaccgcctgctcttcttCgaaaactacgagcacaacac	6	15	3	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr19:35524582C>T	ENST00000262631.5	+	3	524	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Silent_p.F129F|SCN1B_ENST00000595652.1_Intron|CTD-2527I21.9_ENST00000601692.1_RNA	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	129	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTCTTCTTCGAAAACTACG	0.552																																																	0								ENSG00000105711						162	125	137					19																	35524582		2203	4300	6503	SCN1B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.387C>T	19.37:g.35524582C>T		Somatic	0	72	0		0.555890421609159	89	1.11	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5TZZ4|Q6TN97	Silent	SNP							pfam_Immunoglobulin,pfam_Ig_V-set	p.F129	ENST00000262631.5	37	c.387	CCDS12441.1	19																																																																																			-	pfam_Ig_V-set		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	protein_coding	OTTHUMT00000461567.1	C		-		35524582	1	no_errors	ENST00000262631	ensembl	human	known	74_37	silent	SNP	0.277	T	T	35524582	C	T	35524582	2	4	212	1	0	0	0	0	0	0	0	1	13923	883	31	1		1	SCN1B	19	35524582	Silent	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	291761	35524582	23604401	66	17395											
SPRED3	399473	genome.wustl.edu	37	chr19	38886200	38886200	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagggggcctggggtggggCggccgcggctacgaggatta	22	9	0	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr19:38886200C>A	ENST00000338502.4	+	5	751	c.648C>A	c.(646-648)ggC>ggA	p.G216G	SPRED3_ENST00000587013.1_Silent_p.G260G|SPRED3_ENST00000586301.1_Silent_p.G216G|AC005789.11_ENST00000588453.1_lincRNA	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	216	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGGGTGGGGCGGCCGCGGCT	0.716																																																	0								ENSG00000188766						6	6	6					19																	38886200		1736	3911	5647	SPRED3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.648C>A	19.37:g.38886200C>A		Somatic	0	29	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	Q2MJR1	Silent	SNP							pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.G216	ENST00000338502.4	37	c.648	CCDS42560.1	19																																																																																			-	NULL		0.716	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED3	protein_coding	OTTHUMT00000459216.1	C	XM_351191	-		38886200	1	no_errors	ENST00000338502	ensembl	human	known	74_37	silent	SNP	0.992	A	A	38886200	C	A	38886200	2	1	212	1	0	0	0	0	0	0	0	1	15101	755	27	3		3	SPRED3	19	38886200	Silent	SNP	C	TCGA-SI-A71O-01A-12D-A33E-09	3361618	38886200	20242783	67	17396											
C19orf18	147685	genome.wustl.edu	37	chr19	58470001	58470001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttttccattatgtgacGcattctttgttttgttttct	5	8	2	1	rs139357251	byFrequency	TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr19:58470001G>A	ENST00000314391.3	-	6	718	c.617C>T	c.(616-618)gCg>gTg	p.A206V		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A206V(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATTATGTGACGCATTCTTTGT	0.403													G|||	6	0.00119808	0	0	5008	,	,		17255	0		0	False		,,,				2504	0.0061																1	Substitution - Missense(1)	lung(1)						ENSG00000177025	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71	67	69		617	-2.2	0	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf18	NM_152474.4	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	206/216	58470001	2,13004	2203	4300	6503	C19orf18	SO:0001583	missense	0			-	HGNC	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.617C>T	19.37:g.58470001G>A	ENSP00000321519:p.Ala206Val	Somatic	0	67	0		0.555890421609159	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP							NULL	p.A206V	ENST00000314391.3	37	c.617	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319556	0.41096	2.27E-4	1.16E-4	ENSG00000177025	ENST00000314391	T	0.50277	0.75	2.96	-2.15	0.07102	.	.	.	.	.	T	0.20618	0.0496	N	0.14661	0.345	0.09310	N	1	B	0.27498	0.18	B	0.15484	0.013	T	0.12785	-1.0534	9	0.30078	T	0.28	-6.121	0.7039	0.00912	0.238:0.1861:0.3857:0.1901	.	206	Q8NEA5	CS018_HUMAN	V	206	ENSP00000321519:A206V	ENSP00000321519:A206V	A	-	2	0	C19orf18	63161813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	-0.305000	0.08831	-0.458000	0.05436	GCG	-	NULL		0.403	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	protein_coding	OTTHUMT00000466704.1	G	NM_152474	rs139357251		58470001	-1	no_errors	ENST00000314391	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58470001	G	A	58470001	3	1	212	1	0	0	0	0	1	0	0	0	1912	1087	38	1	34	1	C19orf18	19	58470001	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	19583801	58470001	658982	68	17397											
CST3	1471	genome.wustl.edu	37	chr20	23616002	23616002	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtagttcaccccagctacGatctacacatgtgaaagagc	8	11	2	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr20:23616002G>T	ENST00000398411.1	-	2	328	c.246C>A	c.(244-246)atC>atA	p.I82I	CST3_ENST00000376925.3_Silent_p.I82I|CST3_ENST00000398409.1_Silent_p.I82I			P01034	CYTC_HUMAN	cystatin C	82					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)	p.I82I(1)		large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCAGCTACGATCTACACAT	0.567																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000101439						110	84	93					20																	23616002		2203	4300	6503	CST3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"cystatin C (amyloid angiopathy and cerebral hemorrhage)"			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.246C>A	20.37:g.23616002G>T		Somatic	0	41	0		0.555890421609159	1685	0.59	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	B2R5J9|D3DW42|Q6FGW9	Silent	SNP							pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.I82	ENST00000398411.1	37	c.246	CCDS13158.1	20																																																																																			-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.567	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CST3	protein_coding	OTTHUMT00000256831.1	G	NM_000099	-		23616002	-1	no_errors	ENST00000376925	ensembl	human	known	74_37	silent	SNP	0.008	T	T	23616002	G	T	23616002	2	4	212	1	0	0	0	0	0	0	0	1	3975	1048	37	3		3	CST3	20	23616002	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		23616002	39409518	69	17398											
DIP2A	23181	genome.wustl.edu	37	chr21	47966879	47966879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgggctgatggtcactggaGttcgcagacacaatgcagat	13	9	1	3			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chr21:47966879G>T	ENST00000417564.2	+	21	2467	c.2446G>T	c.(2446-2448)Gtt>Ttt	p.V816F	DIP2A_ENST00000427143.2_Missense_Mutation_p.V752F|DIP2A_ENST00000435722.3_Missense_Mutation_p.V816F|DIP2A_ENST00000466639.1_Missense_Mutation_p.V773F|DIP2A_ENST00000400274.1_Missense_Mutation_p.V812F|DIP2A_ENST00000318711.7_Missense_Mutation_p.V817F|DIP2A_ENST00000457905.3_Missense_Mutation_p.V816F			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	816					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTCACTGGAGTTCGCAGACA	0.602																																																	0								ENSG00000160305						80	88	86					21																	47966879		2155	4272	6427	DIP2A	SO:0001583	missense	0			-	HGNC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2446G>T	21.37:g.47966879G>T	ENSP00000392066:p.Val816Phe	Somatic	0	79	0		0.555890421609159	38	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V817F	ENST00000417564.2	37	c.2449	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952212	0.18431	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87	4.58	-2.33	0.06724	.	0.549672	0.17026	N	0.189907	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.10450	0.003;0.001;0.004;0.005;0.003;0.003	T	0.29912	-0.9996	10	0.59425	D	0.04	-0.2178	1.547	0.02567	0.2228:0.1173:0.4203:0.2397	.	817;752;773;752;816;816	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4	.;.;.;.;DIP2A_HUMAN;.	F	812;752;817;773;816;773;816;816	ENSP00000383133:V812F;ENSP00000400528:V752F;ENSP00000323633:V817F;ENSP00000393434:V816F;ENSP00000430249:V773F;ENSP00000415089:V816F;ENSP00000392066:V816F	ENSP00000323633:V817F	V	+	1	0	DIP2A	46791307	0.873000	0.30073	0.000000	0.03702	0.349000	0.29174	2.592000	0.46171	-0.115000	0.11915	-0.229000	0.12294	GTT	-	NULL		0.602	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	protein_coding	OTTHUMT00000376736.1	G	NM_015151	-		47966879	1	no_errors	ENST00000318711	ensembl	human	known	74_37	missense	SNP	0.025	T	T	47966879	G	T	47966879	3	4	212	1	0	0	0	0	1	0	0	0	4529	1029	36	3	2573	3	DIP2A	21	47966879	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		47966879	163016	70	17399											
ARHGAP6	395	genome.wustl.edu	37	chrX	11187750	11187750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacttctgcttgtgcagcaGgttgggtccaaatatggtgg	14	7	1	1			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chrX:11187750G>C	ENST00000337414.4	-	9	2556	c.1684C>G	c.(1684-1686)Ctg>Gtg	p.L562V	ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L359V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.L594V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L359V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.L562V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.L387V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.L371V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	562	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTGTGCAGCAGGTTGGGTCCA	0.448																																																	0								ENSG00000047648						150	124	133					X																	11187750		2203	4300	6503	ARHGAP6	SO:0001583	missense	0			-	HGNC	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1684C>G	X.37:g.11187750G>C	ENSP00000338967:p.Leu562Val	Somatic	0	13	0		0.555890421609159	2	83.33	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	3	88.00	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L562V	ENST00000337414.4	37	c.1684	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872023	0.72180	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.42172	D	0.000742	T	0.72463	0.3463	M	0.70108	2.13	0.58432	D	0.999999	D;D;D;D;D	0.69078	0.981;0.972;0.981;0.994;0.997	P;P;P;D;D	0.74348	0.871;0.891;0.855;0.954;0.983	T	0.75482	-0.3302	10	0.87932	D	0	.	10.5651	0.45167	0.1538:0.0:0.8462:0.0	.	371;359;562;562;562	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	387;359;359;562;398;562;371;594	ENSP00000438135:L387V;ENSP00000370112:L359V;ENSP00000302312:L359V;ENSP00000338967:L562V;ENSP00000370093:L398V;ENSP00000370094:L562V;ENSP00000389394:L371V;ENSP00000370108:L594V	ENSP00000302312:L359V	L	-	1	2	ARHGAP6	11097671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.234000	0.65343	2.385000	0.81259	0.600000	0.82982	CTG	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	protein_coding	OTTHUMT00000055760.2	G	NM_013427	-		11187750	-1	no_errors	ENST00000337414	ensembl	human	known	74_37	missense	SNP	1.000	C	C	11187750	G	C	11187750	3	2	212	1	0	0	0	0	1	0	0	0	887	991	35	4	1382	4	ARHGAP6	23	11187750	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09		11187750	144082810	71	17400											
ZNF81	347344	genome.wustl.edu	37	chrX	47775688	47775688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caataaacaccagaccattcAcactggagagaaaccctatg	6	12	1	2			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chrX:47775688A>C	ENST00000376954.1	+	6	2011	c.1643A>C	c.(1642-1644)cAc>cCc	p.H548P	ZNF81_ENST00000338637.7_Missense_Mutation_p.H548P			P51508	ZNF81_HUMAN	zinc finger protein 81	548					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAGACCATTCACACTGGAGAG	0.433																																																	0								ENSG00000197779						60	59	59					X																	47775688		2147	4268	6415	ZNF81	SO:0001583	missense	0			-	HGNC	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1643A>C	X.37:g.47775688A>C	ENSP00000366153:p.His548Pro	Somatic	0	13	0		0.555890421609159	0	100	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	2	91.30	Q6RX22|Q96QH6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H548P	ENST00000376954.1	37	c.1643	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146565	0.57044	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.67698	-0.28;-0.28	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000801	D	0.85805	0.5782	H	0.96398	3.815	0.36240	D	0.853239	D	0.89917	1.0	D	0.91635	0.999	D	0.91159	0.4959	10	0.87932	D	0	.	10.5689	0.45188	1.0:0.0:0.0:0.0	.	548	P51508	ZNF81_HUMAN	P	548	ENSP00000366153:H548P;ENSP00000341151:H548P	ENSP00000341151:H548P	H	+	2	0	ZNF81	47660632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.608000	0.90895	1.858000	0.53909	0.441000	0.28932	CAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	protein_coding	OTTHUMT00000056455.2	A	NM_007137	-		47775688	1	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	SNP	1.000	C	C	47775688	A	C	47775688	3	2	212	1	0	0	0	0	1	0	0	0	18181	159	6	5	1657	5	ZNF81	23	47775688	Missense_Mutation	SNP	A	TCGA-SI-A71O-01A-12D-A33E-09	36587938	47775688	107494872	72	17401											
SOX3	6658	genome.wustl.edu	37	chrX	139586860	139586860	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcgcaccaccgctgctGccgccgcccgagttcgcgcc	11	22	0	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chrX:139586860G>T	ENST00000370536.2	-	1	365	c.366C>A	c.(364-366)ggC>ggA	p.G122G		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	122					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CACCGCTGCTGCCGCCGCCCG	0.731																																																	0								ENSG00000134595						13	15	14					X																	139586860		2197	4286	6483	SOX3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.366C>A	X.37:g.139586860G>T		Somatic	0	40	0		0.555890421609159	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	P35714|Q5JWI3|Q9NP49	Silent	SNP							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G122	ENST00000370536.2	37	c.366	CCDS14669.1	X																																																																																			-	superfamily_HMG_box_dom		0.731	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	protein_coding	OTTHUMT00000058577.1	G		-		139586860	-1	no_errors	ENST00000370536	ensembl	human	known	74_37	silent	SNP	1.000	T	T	139586860	G	T	139586860	2	4	212	1	0	0	0	0	0	0	0	1	14959	1306	46	3		3	SOX3	23	139586860	Silent	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	91811172	139586860	15683700	73	17402											
IDS	3423	genome.wustl.edu	37	chrX	148568507	148568507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtcgaggtaagggaaaaGcttctcgcctgcctccggaa	14	10	1	0			TCGA-SI-A71O-01A-12D-A33E-09	TCGA-SI-A71O-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33159557-eb32-44de-aaa2-80a9752b3a96	7054e42b-ba0b-4d61-86b0-970d4d7dd6bc	g.chrX:148568507G>T	ENST00000340855.6	-	8	1338	c.1129C>A	c.(1129-1131)Ctt>Att	p.L377I	IDS_ENST00000541269.1_Missense_Mutation_p.L166I|IDS_ENST00000422081.2_Missense_Mutation_p.L166I|IDS_ENST00000537071.1_Intron|IDS_ENST00000490775.1_5'Flank	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	377					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TAAGGGAAAAGCTTCTCGCCT	0.453																																																	0								ENSG00000010404						86	79	81					X																	148568507		2203	4300	6503	IDS	SO:0001583	missense	0			-	HGNC	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1129C>A	X.37:g.148568507G>T	ENSP00000339801:p.Leu377Ile	Somatic	0	33	0		0.555890421609159	278	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP							pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L377I	ENST00000340855.6	37	c.1129	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	g	7.359	0.624429	0.14193	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.99462	-5.72;-5.94	5.27	2.57	0.30868	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.485593	0.23083	N	0.052124	D	0.96430	0.8835	N	0.16478	0.41	0.80722	D	1	B;B	0.17038	0.007;0.02	B;B	0.20384	0.007;0.029	D	0.91708	0.5379	10	0.21540	T	0.41	.	5.3212	0.15881	0.27:0.1987:0.5313:0.0	.	287;377	B4DGD7;P22304	.;IDS_HUMAN	I	377;166	ENSP00000339801:L377I;ENSP00000441261:L166I	ENSP00000339801:L377I	L	-	1	0	IDS	148376412	0.032000	0.19561	0.886000	0.34754	0.151000	0.21798	0.288000	0.18939	0.194000	0.20326	0.525000	0.51046	CTT	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.453	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	protein_coding	OTTHUMT00000058677.3	G		-		148568507	-1	no_errors	ENST00000340855	ensembl	human	known	74_37	missense	SNP	0.990	T	T	148568507	G	T	148568507	3	4	212	1	0	0	0	0	1	0	0	0	7505	971	34	3	531	3	IDS	23	148568507	Missense_Mutation	SNP	G	TCGA-SI-A71O-01A-12D-A33E-09	8981647	148568507	6702053	74	17403											
LRP8	7804	genome.wustl.edu	37	chr1	53792620	53792620	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagaggggatgcagcgctCgttccggcactggaattggt	15	10	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr1:53792620C>A	ENST00000306052.6	-	2	270	c.169G>T	c.(169-171)Gag>Tag	p.E57*	LRP8_ENST00000371454.2_Nonsense_Mutation_p.E57*|LRP8_ENST00000347547.2_Nonsense_Mutation_p.E57*|LRP8_ENST00000354412.3_Nonsense_Mutation_p.E57*|RP4-784A16.5_ENST00000445039.2_lincRNA|LRP8_ENST00000465675.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	57	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATGCAGCGCTCGTTCCGGCAC	0.652																																																	0								ENSG00000157193						95	86	89					1																	53792620		2203	4300	6503	LRP8	SO:0001587	stop_gained	0			-	HGNC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.169G>T	1.37:g.53792620C>A	ENSP00000303634:p.Glu57*	Somatic	0	79	0		0.41204293964108	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Nonsense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E57*	ENST00000306052.6	37	c.169	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.101832	0.98063	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	.	.	.	4.46	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.6108	0.22751	0.0:0.6911:0.1458:0.1631	.	.	.	.	X	57	.	ENSP00000303634:E57X	E	-	1	0	LRP8	53565208	0.133000	0.22466	0.989000	0.46669	0.856000	0.48823	0.634000	0.24614	1.107000	0.41642	0.462000	0.41574	GAG	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.652	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	protein_coding	OTTHUMT00000024699.1	C	NM_004631	-		53792620	-1	no_errors	ENST00000306052	ensembl	human	known	74_37	nonsense	SNP	0.996	A	A	53792620	C	A	53792620	4	1	213	1	0	0	0	0	0	1	0	0	8965	893	31	3	2794	3	LRP8	1	53792620	Nonsense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		53792620	195458001	1	17404											
LASS2	29956	genome.wustl.edu	37	chr1	150940932	150940932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcgttgggaggtgccCgcagccgagttttctccttt	15	10	1	0	rs587616340	byFrequency	TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr1:150940932C>T	ENST00000271688.6	-	3	616	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.R77Q|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.R77Q|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	77					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGGAGGTGCCCGCAGCCGAGT	0.557													C|||	2	0.000399361	0	0	5008	,	,		17379	0		0	False		,,,				2504	0.002																0								ENSG00000143418						82	78	79					1																	150940932		2203	4300	6503	CERS2	SO:0001583	missense	0			-	HGNC	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.230G>A	1.37:g.150940932C>T	ENSP00000271688:p.Arg77Gln	Somatic	0	133	0		0.41204293964108	617	23.01	185	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	94	13.76	D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP							pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.R77Q	ENST00000271688.6	37	c.230	CCDS973.1	1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237511	0.39498	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.08	5.08	0.68730	Homeobox (2);Homeodomain-like (1);	0.134129	0.49305	D	0.000157	T	0.12774	0.0310	L	0.41710	1.295	0.54753	D	0.999985	B	0.20368	0.044	B	0.20184	0.028	T	0.04347	-1.0958	10	0.31617	T	0.26	-21.7859	9.9949	0.41893	0.0:0.8747:0.0:0.1253	.	77	Q96G23	CERS2_HUMAN	Q	77;77;97;77;77;77	ENSP00000357950:R77Q;ENSP00000271688:R77Q;ENSP00000357945:R97Q;ENSP00000355020:R77Q;ENSP00000393239:R77Q;ENSP00000394012:R77Q	ENSP00000271688:R77Q	R	-	2	0	CERS2	149207556	0.989000	0.36119	1.000000	0.80357	0.924000	0.55760	1.429000	0.34903	2.646000	0.89796	0.655000	0.94253	CGG	-	superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom		0.557	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	protein_coding	OTTHUMT00000084897.2	C	NM_022075	-		150940932	-1	no_errors	ENST00000271688	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150940932	C	T	150940932	3	4	213	1	0	0	0	0	1	0	0	0	8641	652	23	1	948	1	LASS2	1	150940932	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	97148312	150940932	98309689	2	17405											
CHIT1	1118	genome.wustl.edu	37	chr1	203186975	203186975	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catggccccgcccagtccctTctgcttcagatagctgacct	8	17	2	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr1:203186975T>A	ENST00000367229.1	-	10	1082	c.1048A>T	c.(1048-1050)Aag>Tag	p.K350*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.K331*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.K341*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	350					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CCCAGTCCCTTCTGCTTCAGA	0.637																																																	0								ENSG00000133063						43	35	38					1																	203186975		2203	4300	6503	CHIT1	SO:0001587	stop_gained	0			-	HGNC	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.1048A>T	1.37:g.203186975T>A	ENSP00000356198:p.Lys350*	Somatic	0	75	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP							pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.K350*	ENST00000367229.1	37	c.1048	CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429057	0.83667	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.71	2.1	0.27182	.	0.819792	0.10465	N	0.671455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-6.7144	6.0807	0.19940	0.1611:0.0:0.167:0.6718	.	.	.	.	X	350;331;341	.	ENSP00000255427:K331X	K	-	1	0	CHIT1	201453598	0.987000	0.35691	0.883000	0.34634	0.428000	0.31595	1.045000	0.30341	0.720000	0.32209	0.460000	0.39030	AAG	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.637	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	protein_coding	OTTHUMT00000100275.2	T	NM_003465	-		203186975	-1	no_errors	ENST00000367229	ensembl	human	known	74_37	nonsense	SNP	0.332	A	A	203186975	T	A	203186975	4	1	213	1	0	0	0	0	0	1	0	0	3348	1792	62	5	360	5	CHIT1	1	203186975	Nonsense_Mutation	SNP	T	TCGA-SI-A71P-01A-12D-A33E-09	52246043	203186975	46063646	3	17406											
LRRN2	10446	genome.wustl.edu	37	chr1	204588925	204588925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgcctgcggggagtgCcggggggactgccgtcagga	20	10	1	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr1:204588925C>T	ENST00000367175.1	-	1	2408	c.196G>A	c.(196-198)Gca>Aca	p.A66T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A66T|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.A66T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	66	LRRNT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			GCGGGGAGTGCCGGGGGGACT	0.632																																																	0								ENSG00000170382						53	52	52					1																	204588925		2203	4300	6503	LRRN2	SO:0001583	missense	0			-	HGNC	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.196G>A	1.37:g.204588925C>T	ENSP00000356143:p.Ala66Thr	Somatic	0	51	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A66T	ENST00000367175.1	37	c.196	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.446599	0.01089	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.21932	1.98;1.98;1.98	5.67	3.73	0.42828	Leucine-rich repeat-containing N-terminal (1);	1.155900	0.06676	N	0.767169	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.39057	-0.9632	10	0.14656	T	0.56	.	5.5513	0.17091	0.1421:0.6417:0.0:0.2162	.	66	O75325	LRRN2_HUMAN	T	66	ENSP00000356144:A66T;ENSP00000356145:A66T;ENSP00000356143:A66T	ENSP00000356143:A66T	A	-	1	0	LRRN2	202855548	0.000000	0.05858	0.036000	0.18154	0.032000	0.12392	0.346000	0.19997	0.701000	0.31803	0.650000	0.86243	GCA	-	NULL		0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	protein_coding	OTTHUMT00000089894.1	C	NM_006338	-		204588925	-1	no_errors	ENST00000367175	ensembl	human	known	74_37	missense	SNP	0.003	T	T	204588925	C	T	204588925	3	4	213	1	0	0	0	0	1	0	0	0	9037	739	26	2	1949	2	LRRN2	1	204588925	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	1401950	204588925	44661696	4	17407											
OR2T8	343172	genome.wustl.edu	37	chr1	248084909	248084909	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcttcgaaaacgccaTgtacatctgctgtgtgttaa	8	9	3	0	rs34508376	byFrequency	TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr1:248084909T>G	ENST00000319968.4	+	1	590	c.590T>G	c.(589-591)aTg>aGg	p.M197R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	197			M -> R (in dbSNP:rs4474294).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAACGCCATGTACATCTGC	0.527													T|||	1511	0.301717	0.1029	0.4337	5008	,	,		14434	0.2778		0.4652	False		,,,				2504	0.3333																0								ENSG00000177462						4	3	4					1																	248084909		1815	3480	5295	OR2T8	SO:0001583	missense	0			-	HGNC		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.590T>G	1.37:g.248084909T>G	ENSP00000326225:p.Met197Arg	Somatic	0	32	0		0.41204293964108	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M197R	ENST00000319968.4	37	c.590	CCDS31100.1	1	1010	0.4624542124542125	65	0.13211382113821138	233	0.643646408839779	209	0.36538461538461536	503	0.6635883905013192	T	14.19	2.460615	0.43736	.	.	ENSG00000177462	ENST00000319968	T	0.00130	8.69	3.56	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	D	0.57899	0.981	D	0.65987	0.94	T	0.13255	-1.0516	9	0.72032	D	0.01	.	4.6079	0.12387	0.1689:0.1007:0.0:0.7304	rs34508376	197	A6NH00	OR2T8_HUMAN	R	197	ENSP00000326225:M197R	ENSP00000326225:M197R	M	+	2	0	OR2T8	246151532	0.000000	0.05858	0.009000	0.14445	0.396000	0.30629	-0.130000	0.10498	0.012000	0.14892	0.332000	0.21555	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	protein_coding	OTTHUMT00000096862.1	T	NM_001005522	rs34508376		248084909	1	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	SNP	0.000	G	G	248084909	T	G	248084909	3	3	213	1	0	0	0	0	1	0	0	0	11032	1464	51	5	592	5	OR2T8	1	248084909	Missense_Mutation	SNP	T	TCGA-SI-A71P-01A-12D-A33E-09	43495984	248084909	1165712	5	17408											
C2orf39	92749	genome.wustl.edu	37	chr2	26624902	26624902	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccctggacccgaacgtggaCgagcacttgtccacccagat	11	15	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:26624902C>G	ENST00000288710.2	+	1	119	c.45C>G	c.(43-45)gaC>gaG	p.D15E		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	15					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CGAACGTGGACGAGCACTTGT	0.677																																																	0								ENSG00000157856						34	30	31					2																	26624902		2203	4300	6503	DRC1	SO:0001583	missense	0			-	HGNC	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.45C>G	2.37:g.26624902C>G	ENSP00000288710:p.Asp15Glu	Somatic	0	249	0		0.41204293964108	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	178	8.21	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP							NULL	p.D15E	ENST00000288710.2	37	c.45	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.391562	0.01185	.	.	ENSG00000157856	ENST00000288710	T	0.11930	2.73	4.97	-0.914	0.10497	.	0.295281	0.27455	N	0.019294	T	0.03095	0.0091	N	0.01668	-0.77	0.09310	N	0.999992	B	0.06786	0.001	B	0.08055	0.003	T	0.43015	-0.9417	10	0.02654	T	1	-3.8821	7.8279	0.29326	0.1349:0.4747:0.3904:0.0	.	15	Q96MC2	CC164_HUMAN	E	15	ENSP00000288710:D15E	ENSP00000288710:D15E	D	+	3	2	CCDC164	26478406	0.268000	0.24133	0.052000	0.19188	0.011000	0.07611	-0.966000	0.03825	-0.390000	0.07774	0.655000	0.94253	GAC	-	NULL		0.677	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	protein_coding	OTTHUMT00000246862.1	C	NM_145038	-		26624902	1	no_errors	ENST00000288710	ensembl	human	known	74_37	missense	SNP	0.356	G	G	26624902	C	G	26624902	3	3	213	1	0	0	0	0	1	0	0	0	2166	535	19	4	47	4	C2orf39	2	26624902	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		26624902	216574471	6	17409											
C2orf71	388939	genome.wustl.edu	37	chr2	29295870	29295870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgtggctgaacctttgCcataggagcccctgagagca	12	12	0	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:29295870C>A	ENST00000331664.5	-	1	1257	c.1258G>T	c.(1258-1260)Gca>Tca	p.A420S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	420					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGAACCTTTGCCATAGGAGCC	0.582																																																	0								ENSG00000179270						85	88	87					2																	29295870		2003	4168	6171	C2orf71	SO:0001583	missense	0			-	HGNC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1258G>T	2.37:g.29295870C>A	ENSP00000332809:p.Ala420Ser	Somatic	0	81	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	23.73		Missense_Mutation	SNP							NULL	p.A420S	ENST00000331664.5	37	c.1258	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822160	0.50739	.	.	ENSG00000179270	ENST00000331664	T	0.20463	2.07	4.98	2.13	0.27403	.	0.508000	0.20508	N	0.090941	T	0.19327	0.0464	M	0.62723	1.935	0.09310	N	1	P	0.34462	0.454	B	0.34452	0.183	T	0.14755	-1.0461	10	0.17369	T	0.5	-4.2415	9.4086	0.38477	0.0:0.7612:0.0:0.2388	.	420	A6NGG8	CB071_HUMAN	S	420	ENSP00000332809:A420S	ENSP00000332809:A420S	A	-	1	0	C2orf71	29149374	0.005000	0.15991	0.011000	0.14972	0.640000	0.38277	1.608000	0.36847	0.620000	0.30215	0.561000	0.74099	GCA	-	NULL		0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	protein_coding	OTTHUMT00000324924.3	C	NM_001029883	-		29295870	-1	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	SNP	0.004	A	A	29295870	C	A	29295870	3	1	213	1	0	0	0	0	1	0	0	0	2193	739	26	3	2616	3	C2orf71	2	29295870	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	2670968	29295870	213903503	7	17410											
UGP2	7360	genome.wustl.edu	37	chr2	64109761	64109761	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaatgagaatacctttctGgatctgactgttcagcaaat	9	7	3	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:64109761G>T	ENST00000337130.5	+	4	893	c.417G>T	c.(415-417)ctG>ctT	p.L139L	ACA59_ENST00000515966.1_RNA|UGP2_ENST00000467648.2_Silent_p.L128L|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000394417.2_Silent_p.L128L|UGP2_ENST00000445915.2_Silent_p.L148L	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	139					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATACCTTTCTGGATCTGACTG	0.363																																																	0								ENSG00000169764						136	138	137					2																	64109761		2203	4300	6503	UGP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.417G>T	2.37:g.64109761G>T		Somatic	0	59	0		0.41204293964108	177	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q07131|Q0P6K2|Q86Y81|Q9BU15	Silent	SNP							pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.L139	ENST00000337130.5	37	c.417	CCDS1875.1	2																																																																																			-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.363	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	protein_coding	OTTHUMT00000251688.1	G	NM_006759	-		64109761	1	no_errors	ENST00000337130	ensembl	human	known	74_37	silent	SNP	1.000	T	T	64109761	G	T	64109761	2	4	213	1	0	0	0	0	0	0	0	1	16950	1335	47	3		3	UGP2	2	64109761	Silent	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	34813891	64109761	179089612	8	17411											
FBXO41	150726	genome.wustl.edu	37	chr2	73486154	73486154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaatcttagagaagcCgggcctccgtcgcagagcct	13	12	1	3			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:73486154C>T	ENST00000521871.1	-	13	2999	c.2584G>A	c.(2584-2586)Ggc>Agc	p.G862S	FBXO41_ENST00000295133.5_Missense_Mutation_p.G923S|FBXO41_ENST00000520530.2_Missense_Mutation_p.G862S			Q8TF61	FBX41_HUMAN	F-box protein 41	862										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TTAGAGAAGCCGGGCCTCCGT	0.672																																																	0								ENSG00000163013						23	28	26					2																	73486154		1912	4091	6003	FBXO41	SO:0001583	missense	0			-	HGNC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2584G>A	2.37:g.73486154C>T	ENSP00000428646:p.Gly862Ser	Somatic	0	92	0		0.41204293964108	9	18.18	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	G3V0Z7|Q2M1V8	Missense_Mutation	SNP							superfamily_F-box_dom	p.G923S	ENST00000521871.1	37	c.2767	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	31	5.103791	0.94245	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56456	-0.7976	9	0.17832	T	0.49	-9.3665	17.386	0.87416	0.0:1.0:0.0:0.0	.	862	Q8TF61	FBX41_HUMAN	S	923;862	.	ENSP00000295133:G923S	G	-	1	0	FBXO41	73339662	0.996000	0.38824	1.000000	0.80357	0.860000	0.49131	3.398000	0.52579	2.774000	0.95407	0.561000	0.74099	GGC	-	NULL		0.672	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	protein_coding	OTTHUMT00000377381.1	C		-		73486154	-1	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73486154	C	T	73486154	3	4	213	1	0	0	0	0	1	0	0	0	5752	652	23	1	47	1	FBXO41	2	73486154	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	9376393	73486154	169713219	9	17412											
DCTN1	1639	genome.wustl.edu	37	chr2	74597633	74597633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcattctgctcctcaaGctgcttgagctgataactgg	12	11	2	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:74597633G>T	ENST00000361874.3	-	11	1404	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I	DCTN1_ENST00000409567.3_Missense_Mutation_p.L343I|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.L229I|DCTN1_ENST00000394003.3_Missense_Mutation_p.L356I|DCTN1_ENST00000409868.1_Missense_Mutation_p.L346I|DCTN1_ENST00000407639.2_Missense_Mutation_p.L229I|DCTN1_ENST00000409240.1_Missense_Mutation_p.L326I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	363					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)			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						TGCTCCTCAAGCTGCTTGAGC	0.532																																																	0								ENSG00000204843						96	85	89					2																	74597633		2203	4300	6503	DCTN1	SO:0001583	missense	0			-	HGNC		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.1087C>A	2.37:g.74597633G>T	ENSP00000354791:p.Leu363Ile	Somatic	0	57	0		0.41204293964108	265	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP							pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.L363I	ENST00000361874.3	37	c.1087	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943958	0.92593	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.76578	-1.02;-1.02;-1.02;-1.02;-1.02;-1.03;-1.02	4.98	4.98	0.66077	.	0.000000	0.37906	N	0.001883	D	0.88213	0.6376	M	0.80028	2.48	0.80722	D	1	D;P;D;D;D;D	0.69078	0.994;0.756;0.993;0.989;0.997;0.974	D;B;D;P;D;D	0.71870	0.931;0.293;0.952;0.893;0.975;0.953	D	0.89602	0.3835	10	0.72032	D	0.01	-5.7611	17.1844	0.86863	0.0:0.0:1.0:0.0	.	343;326;363;356;229;229	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	I	363;356;346;229;229;326;346;343	ENSP00000354791:L363I;ENSP00000377571:L356I;ENSP00000384844:L229I;ENSP00000387270:L229I;ENSP00000386406:L326I;ENSP00000387327:L346I;ENSP00000386843:L343I	ENSP00000354791:L363I	L	-	1	0	DCTN1	74451141	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.431000	0.73395	2.591000	0.87537	0.655000	0.94253	CTT	-	NULL		0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	protein_coding	OTTHUMT00000252227.3	G	NM_004082	-		74597633	-1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74597633	G	T	74597633	3	4	213	1	0	0	0	0	1	0	0	0	4308	971	34	3	2837	3	DCTN1	2	74597633	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	1111479	74597633	168601740	10	17413											
LONRF2	164832	genome.wustl.edu	37	chr2	100915748	100915748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcccctgactttcttctGtctcagagtttgggctcctt	9	12	3	3			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:100915748G>A	ENST00000393437.3	-	6	1940	c.1301C>T	c.(1300-1302)aCa>aTa	p.T434I	LONRF2_ENST00000409647.1_Missense_Mutation_p.T191I	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	434							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACTTTCTTCTGTCTCAGAGTT	0.433																																																	0								ENSG00000170500						82	83	82					2																	100915748		2203	4300	6503	LONRF2	SO:0001583	missense	0			-	HGNC	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1301C>T	2.37:g.100915748G>A	ENSP00000377086:p.Thr434Ile	Somatic	0	71	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	17.95	B9A006|Q6ZSR4	Missense_Mutation	SNP							pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.T434I	ENST00000393437.3	37	c.1301	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349399	0.11182	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86030	-1.9;-2.06	3.96	-7.93	0.01156	Zinc finger, RING/FYVE/PHD-type (1);	3.484580	0.00520	N	0.000191	T	0.71367	0.3331	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61700	-0.7009	10	0.18710	T	0.47	14.1699	7.1238	0.25461	0.1823:0.1025:0.5782:0.1371	.	434	Q1L5Z9	LONF2_HUMAN	I	434;191	ENSP00000377086:T434I;ENSP00000386823:T191I	ENSP00000377086:T434I	T	-	2	0	LONRF2	100282180	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.517000	0.06275	-2.638000	0.00430	-1.090000	0.02178	ACA	-	NULL		0.433	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	protein_coding	OTTHUMT00000253161.2	G	NM_198461	-		100915748	-1	no_errors	ENST00000393437	ensembl	human	known	74_37	missense	SNP	0.000	A	A	100915748	G	A	100915748	3	1	213	1	0	0	0	0	1	0	0	0	8897	1377	48	2	991	2	LONRF2	2	100915748	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	26318115	100915748	142283625	11	17414											
ATIC	471	genome.wustl.edu	37	chr2	216197214	216197214	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgctgcctctttcaaAcatgtcagcccagcaggtaa	8	15	3	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr2:216197214A>G	ENST00000236959.9	+	8	1124	c.798A>G	c.(796-798)aaA>aaG	p.K266K	ATIC_ENST00000435675.1_Silent_p.K265K|ATIC_ENST00000540518.1_Silent_p.K207K	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	266		Transition state stabilizer. {ECO:0000255}.			'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CCTCTTTCAAACATGTCAGCC	0.438			T	ALK	ALCL																																			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0								ENSG00000138363						41	45	44					2																	216197214		2203	4300	6503	ATIC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.798A>G	2.37:g.216197214A>G		Somatic	0	56	0		0.41204293964108	108	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.45	A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP							pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas	p.K266	ENST00000236959.9	37	c.798	CCDS2398.1	2																																																																																			-	pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas		0.438	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATIC	protein_coding	OTTHUMT00000256610.1	A	NM_004044	-		216197214	1	no_errors	ENST00000236959	ensembl	human	known	74_37	silent	SNP	0.985	G	G	216197214	A	G	216197214	2	3	213	1	0	0	0	0	0	0	0	1	1105	40	2	5		5	ATIC	2	216197214	Silent	SNP	A	TCGA-SI-A71P-01A-12D-A33E-09	115281466	216197214	27002159	12	17415											
PLXNB1	5364	genome.wustl.edu	37	chr3	48451087	48451087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagcggcacggggcggCtggtgctgagaatcacctgg	18	11	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr3:48451087C>A	ENST00000358536.4	-	33	6100	c.5831G>T	c.(5830-5832)aGc>aTc	p.S1944I	PLXNB1_ENST00000358459.4_Missense_Mutation_p.S1761I|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S1761I|PLXNB1_ENST00000448774.2_Missense_Mutation_p.S555I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S1944I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1944					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)		CACGGGGCGGCTGGTGCTGAG	0.592																																																	0								ENSG00000164050						60	59	59					3																	48451087		2203	4300	6503	PLXNB1	SO:0001583	missense	0			-	HGNC	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.5831G>T	3.37:g.48451087C>A	ENSP00000351338:p.Ser1944Ile	Somatic	0	60	0		0.41204293964108	56	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.S1944I	ENST00000358536.4	37	c.5831	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	c	15.77	2.932114	0.52866	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	4.16	4.16	0.48862	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.043298	0.85682	D	0.000000	T	0.32526	0.0832	M	0.69823	2.125	0.48571	D	0.999674	D;D	0.71674	0.998;0.979	D;P	0.73380	0.98;0.755	T	0.02743	-1.1116	10	0.38643	T	0.18	.	11.1918	0.48690	0.0:0.905:0.0:0.095	.	1944;1761	O43157;O43157-2	PLXB1_HUMAN;.	I	1944;1761;1944;555;1761	ENSP00000296440:S1944I;ENSP00000351242:S1761I;ENSP00000351338:S1944I;ENSP00000389320:S555I;ENSP00000414199:S1761I	ENSP00000296440:S1944I	S	-	2	0	PLXNB1	48426091	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	4.858000	0.62947	1.868000	0.54150	0.306000	0.20318	AGC	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.592	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	C	NM_002673	-		48451087	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48451087	C	A	48451087	3	1	213	1	0	0	0	0	1	0	0	0	12125	797	28	3	600	3	PLXNB1	3	48451087	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		48451087	149571343	13	17416											
PLXNB1	5364	genome.wustl.edu	37	chr3	48452412	48452412	+	Frame_Shift_Del	DEL	C	C	-													cacgccctgggcctctcctgCcccaggccccacagccaata							TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr3:48452412delC	ENST00000358536.4	-	29	5550	c.5281delG	c.(5281-5283)gcafs	p.A1761fs	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Frame_Shift_Del_p.A1578fs|PLXNB1_ENST00000456774.1_Frame_Shift_Del_p.A1578fs|PLXNB1_ENST00000448774.2_Frame_Shift_Del_p.A372fs|PLXNB1_ENST00000296440.6_Frame_Shift_Del_p.A1761fs	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1761					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)		GCCTCTCCTGCCCCAGGCCCC	0.572																																																	0								ENSG00000164050						47	43	45					3																	48452412		2203	4300	6503	PLXNB1	SO:0001589	frameshift_variant	0				HGNC	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.5281delG	3.37:g.48452412delC	ENSP00000351338:p.Ala1761fs	Somatic	0	49	0		0.41204293964108	53	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Del	DEL							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1761fs	ENST00000358536.4	37	c.5281	CCDS2765.1	3																																																																																			-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.572	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	C	NM_002673			48452412	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	frame_shift_del	DEL	0.002	-	-	48452412	C	-	48452412	7	5	213	1	0	1	0	1	0	0	0	0	12125	739	26	0	1166	0	PLXNB1	3	48452412	Frame_Shift_Del	DEL	C	TCGA-SI-A71P-01A-12D-A33E-09	1325	48452412	149570018	14	17417											
TKT	7086	genome.wustl.edu	37	chr3	53274298	53274298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagtatttgccggtgtaggCcatcccacaagcggccccga	12	13	0	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr3:53274298C>G	ENST00000462138.1	-	4	494	c.406G>C	c.(406-408)Gcc>Ccc	p.A136P	TKT_ENST00000423516.1_Missense_Mutation_p.A136P|TKT_ENST00000296289.6_Missense_Mutation_p.A89P|TKT_ENST00000423525.2_Missense_Mutation_p.A136P			P29401	TKT_HUMAN	transketolase	136					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCGGTGTAGGCCATCCCACAA	0.592																																					Colon(133;1506 2347 35238 42177)												0								ENSG00000163931						90	84	86					3																	53274298		2203	4300	6503	TKT	SO:0001583	missense	0			-	HGNC		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.406G>C	3.37:g.53274298C>G	ENSP00000417773:p.Ala136Pro	Somatic	0	119	0		0.41204293964108	333	22.56	97	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP							pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.A136P	ENST00000462138.1	37	c.406	CCDS2871.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344778	0.82022	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.07	5.17	0.71159	Transketolase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82467	0.5043	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88117	0.2829	10	0.87932	D	0	-3.5466	16.8452	0.85978	0.1289:0.8711:0.0:0.0	.	136;136	E7EPA7;P29401	.;TKT_HUMAN	P	136;136;136;89	ENSP00000417773:A136P;ENSP00000405455:A136P;ENSP00000391481:A136P;ENSP00000296289:A89P	ENSP00000296289:A89P	A	-	1	0	TKT	53249338	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	6.067000	0.71193	2.884000	0.98904	0.655000	0.94253	GCC	-	pfam_Transketolase_N,pfam_DH_E1		0.592	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	protein_coding	OTTHUMT00000350356.1	C		-		53274298	-1	no_errors	ENST00000423525	ensembl	human	known	74_37	missense	SNP	1.000	G	G	53274298	C	G	53274298	3	3	213	1	0	0	0	0	1	0	0	0	15941	739	26	4	1509	4	TKT	3	53274298	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	4821886	53274298	144748132	15	17418											
ARL6	84100	genome.wustl.edu	37	chr3	97487021	97487021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttcatgttttgtgccttGggctagataatagtggcaaa	12	5	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr3:97487021G>A	ENST00000463745.1	+	2	547	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	ARL6_ENST00000335979.2_Missense_Mutation_p.G24R|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.G24R	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	24					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTTGTGCCTTGGGCTAGATAA	0.363																																																	0								ENSG00000113966						127	123	124					3																	97487021		2203	4300	6503	ARL6	SO:0001583	missense	0			-	HGNC	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.70G>A	3.37:g.97487021G>A	ENSP00000419619:p.Gly24Arg	Somatic	0	89	0		0.41204293964108	9	30.77	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07	A8KA93|D3DN31	Missense_Mutation	SNP							pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.G24R	ENST00000463745.1	37	c.70	CCDS2928.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691272	0.88735	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7	5.76	4.87	0.63330	Small GTP-binding protein domain (1);	0.046877	0.85682	N	0.000000	D	0.99739	0.9897	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96729	0.9538	10	0.87932	D	0	.	16.6081	0.84836	0.0:0.1302:0.8698:0.0	.	24	Q9H0F7	ARL6_HUMAN	R	24	ENSP00000419619:G24R;ENSP00000418740:G24R;ENSP00000337722:G24R;ENSP00000377756:G24R	ENSP00000337722:G24R	G	+	1	0	ARL6	98969711	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	9.229000	0.95273	1.391000	0.46566	0.655000	0.94253	GGG	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.363	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6	protein_coding	OTTHUMT00000353756.1	G	NM_032146	-		97487021	1	no_errors	ENST00000335979	ensembl	human	known	74_37	missense	SNP	1.000	A	A	97487021	G	A	97487021	3	1	213	1	0	0	0	0	1	0	0	0	941	1348	47	2	72	2	ARL6	3	97487021	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	44212723	97487021	100535409	16	17419											
FAT1	2195	genome.wustl.edu	37	chr4	187540522	187540522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacacaggtcacgaaatgCccatgaggggcgtgctcgct	12	11	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr4:187540522C>T	ENST00000441802.2	-	10	7427	c.7218G>A	c.(7216-7218)ggG>ggA	p.G2406G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2406	Cadherin 22. {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						TCACGAAATGCCCATGAGGGG	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						49	51	50					4																	187540522		1983	4157	6140	FAT1	SO:0001819	synonymous_variant	0			-	HGNC	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.7218G>A	4.37:g.187540522C>T		Somatic	0	47	0		0.41204293964108	112	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.G2406	ENST00000441802.2	37	c.7218	CCDS47177.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245	-		187540522	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	silent	SNP	0.998	T	T	187540522	C	T	187540522	2	4	213	1	0	0	0	0	0	0	0	1	5691	726	26	2		2	FAT1	4	187540522	Silent	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		187540522	3613754	17	17420											
PSD2	84249	genome.wustl.edu	37	chr5	139201548	139201548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctcacacacttctccCgccggtactgccagtgcaac	9	17	2	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr5:139201548C>A	ENST00000274710.3	+	6	1373	c.1168C>A	c.(1168-1170)Cgc>Agc	p.R390S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	390	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTTCTCCCGCCGGTACTG	0.607																																																	0								ENSG00000146005						161	124	137					5																	139201548		2203	4300	6503	PSD2	SO:0001583	missense	0			-	HGNC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1168C>A	5.37:g.139201548C>A	ENSP00000274710:p.Arg390Ser	Somatic	0	38	0		0.41204293964108	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D3DQD3|Q8N3J8	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.R390S	ENST00000274710.3	37	c.1168	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	c	15.28	2.787102	0.49997	.	.	ENSG00000146005	ENST00000274710	T	0.54071	0.59	5.1	4.09	0.47781	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.165537	0.50627	D	0.000111	T	0.36826	0.0981	N	0.16066	0.365	0.40954	D	0.984567	B	0.09022	0.002	B	0.20577	0.03	T	0.20840	-1.0263	10	0.35671	T	0.21	.	14.9782	0.71293	0.1863:0.8137:0.0:0.0	.	390	Q9BQI7	PSD2_HUMAN	S	390	ENSP00000274710:R390S	ENSP00000274710:R390S	R	+	1	0	PSD2	139181732	0.977000	0.34250	1.000000	0.80357	0.983000	0.72400	2.393000	0.44442	2.539000	0.85634	0.509000	0.49947	CGC	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.607	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	protein_coding	OTTHUMT00000251339.1	C	NM_032289	-		139201548	1	no_errors	ENST00000274710	ensembl	human	known	74_37	missense	SNP	0.999	A	A	139201548	C	A	139201548	3	1	213	1	0	0	0	0	1	0	0	0	12652	652	23	3	1186	3	PSD2	5	139201548	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		139201548	41713712	18	17421											
TIGD6	81789	genome.wustl.edu	37	chr5	149375002	149375002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcagtacagttggaggGcagatacccaacctgaatcc	11	11	0	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr5:149375002G>A	ENST00000296736.3	-	2	1684	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	TIGD6_ENST00000515406.2_Missense_Mutation_p.P304S	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	304	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGTTGGAGGGCAGATACCCA	0.493																																																	0								ENSG00000164296						93	83	86					5																	149375002		2203	4300	6503	TIGD6	SO:0001583	missense	0			-	HGNC	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.910C>T	5.37:g.149375002G>A	ENSP00000296736:p.Pro304Ser	Somatic	0	59	0		0.41204293964108	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP							pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.P304S	ENST00000296736.3	37	c.910	CCDS4301.1	5	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784602	0.49997	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	D;D	0.87966	-2.32;-2.32	5.14	2.32	0.28847	.	0.000000	0.33610	U	0.004731	D	0.83358	0.5237	M	0.68728	2.09	0.24354	N	0.994907	B	0.23806	0.091	B	0.27262	0.078	T	0.74659	-0.3591	10	0.51188	T	0.08	.	6.4459	0.21875	0.1725:0.1538:0.6737:0.0	.	304	Q17RP2	TIGD6_HUMAN	S	304	ENSP00000296736:P304S;ENSP00000425318:P304S	ENSP00000296736:P304S	P	-	1	0	TIGD6	149355195	0.982000	0.34865	0.999000	0.59377	0.980000	0.70556	1.096000	0.30976	0.655000	0.30866	0.563000	0.77884	CCC	-	pfam_DDE_SF_endonuclease_CENPB-like		0.493	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	protein_coding	OTTHUMT00000252324.1	G	NM_030953	-		149375002	-1	no_errors	ENST00000296736	ensembl	human	known	74_37	missense	SNP	0.998	A	A	149375002	G	A	149375002	3	1	213	1	0	0	0	0	1	0	0	0	15907	1203	42	2	659	2	TIGD6	5	149375002	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	10173454	149375002	31540258	19	17422											
DUSP1	1843	genome.wustl.edu	37	chr5	172195870	172195870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacacggtggtggtggaGgtgcctcggtcgagcacagc	17	9	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr5:172195870G>A	ENST00000239223.3	-	4	1241	c.999C>T	c.(997-999)acC>acT	p.T333T	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	333	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)		TGGTGGTGGAGGTGCCTCGGT	0.632																																																	0								ENSG00000120129						98	93	95					5																	172195870		2203	4300	6503	DUSP1	SO:0001819	synonymous_variant	0			-	HGNC	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.999C>T	5.37:g.172195870G>A		Somatic	0	78	0		0.41204293964108	1069	6.21	71	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	D3DQL9|Q2V508	Silent	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.T333	ENST00000239223.3	37	c.999	CCDS4380.1	5																																																																																			-	pirsf_MKP		0.632	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP1	protein_coding	OTTHUMT00000252943.3	G	NM_004417	-		172195870	-1	no_errors	ENST00000239223	ensembl	human	known	74_37	silent	SNP	0.773	A	A	172195870	G	A	172195870	2	1	213	1	0	0	0	0	0	0	0	1	4811	987	35	2		2	DUSP1	5	172195870	Silent	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	22820868	172195870	8719390	20	17423											
SCAND3	114821	genome.wustl.edu	37	chr6	28540383	28540383	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggctgtccaattcacatCtttaaaaagttgggaccaca	7	10	3	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr6:28540383C>A	ENST00000452236.2	-	4	3900	c.3283G>T	c.(3283-3285)Gat>Tat	p.D1095Y		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						caattcacatctttaaaaagt	0.358																																																	0								ENSG00000232040						58	60	59					6																	28540383		2203	4297	6500	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.3283G>T	6.37:g.28540383C>A	ENSP00000395259:p.Asp1095Tyr	Somatic	0	62	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.D1095Y	ENST00000452236.2	37	c.3283	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188577	0.38609	.	.	ENSG00000232040	ENST00000452236	T	0.42513	0.97	2.27	2.27	0.28462	Ribonuclease H-like (1);	3.282620	0.01950	N	0.042540	T	0.56124	0.1964	M	0.82823	2.61	0.30275	N	0.791861	D	0.71674	0.998	D	0.79784	0.993	T	0.14062	-1.0486	10	0.72032	D	0.01	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	1095	Q6R2W3	SCND3_HUMAN	Y	1095	ENSP00000395259:D1095Y	ENSP00000395259:D1095Y	D	-	1	0	SCAND3	28648362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.730000	0.26043	1.581000	0.49865	0.655000	0.94253	GAT	-	superfamily_RNaseH-like_dom		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	C		-		28540383	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28540383	C	A	28540383	3	1	213	1	0	0	0	0	1	0	0	0	13884	913	32	3	698	3	SCAND3	6	28540383	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		28540383	142574684	21	17424											
QKI	9444	genome.wustl.edu	37	chr6	163984490	163984490	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcaacagcccaggctGctccaaggatcattactggg	11	12	1	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr6:163984490G>C	ENST00000361752.3	+	6	1224	c.673G>C	c.(673-675)Gct>Cct	p.A225P	QKI_ENST00000453779.2_Missense_Mutation_p.A225P|QKI_ENST00000424802.3_Missense_Mutation_p.A217P|QKI_ENST00000361195.2_Missense_Mutation_p.A217P|QKI_ENST00000275262.7_Missense_Mutation_p.A225P|QKI_ENST00000392127.2_Missense_Mutation_p.A225P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	225					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGCCCAGGCTGCTCCAAGGAT	0.488																																																	0								ENSG00000112531						42	42	42					6																	163984490		2203	4300	6503	QKI	SO:0001583	missense	0			-	HGNC	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.673G>C	6.37:g.163984490G>C	ENSP00000355094:p.Ala225Pro	Somatic	0	29	0		0.41204293964108	319	40.93	221	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom	p.A225P	ENST00000361752.3	37	c.673	CCDS5285.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768390|2.768390	0.49680|0.49680	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544823|ENST00000537883;ENST00000544361	T;T|.	0.18338|.	2.22;2.22|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.225115|.	0.37669|.	N|.	0.001996|.	T|T	0.38692|0.38692	0.1050|0.1050	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	D;D;P;D;D;D|.	0.76494|.	0.979;0.984;0.919;0.999;0.986;0.986|.	P;P;P;D;P;P|.	0.80764|.	0.736;0.548;0.616;0.994;0.656;0.656|.	T|T	0.13872|0.13872	-1.0493|-1.0493	10|5	0.37606|.	T|.	0.19|.	-2.0224|-2.0224	13.3096|13.3096	0.60371|0.60371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	217;225;217;225;225;225|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	P|S	225;225;225;225;217;217;170|121;58	ENSP00000354867:A217P;ENSP00000408382:A217P|.	ENSP00000275262:A225P|.	A|C	+|+	1|2	0|0	QKI|QKI	163904480|163904480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GCT|TGC	-	NULL		0.488	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	protein_coding	OTTHUMT00000043016.2	G	NM_006775	-		163984490	1	no_errors	ENST00000361752	ensembl	human	known	74_37	missense	SNP	1.000	C	C	163984490	G	C	163984490	3	2	213	1	0	0	0	0	1	0	0	0	12881	1319	46	4	695	4	QKI	6	163984490	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	135444107	163984490	7130577	22	17425											
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138764595	138764595	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgccttggtcattcgtccaGgatgtgaggctcttccagtt	12	11	2	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr7:138764595G>T	ENST00000242351.5	-	4	1408	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	ZC3HAV1_ENST00000464606.1_Silent_p.S364S|ZC3HAV1_ENST00000471652.1_Silent_p.S364S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	364					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CATTCGTCCAGGATGTGAGGC	0.537																																																	0								ENSG00000105939						124	130	128					7																	138764595		2203	4300	6503	ZC3HAV1	SO:0001819	synonymous_variant	0			-	HGNC	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1092C>A	7.37:g.138764595G>T		Somatic	0	53	0		0.41204293964108	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S364	ENST00000242351.5	37	c.1092	CCDS5851.1	7																																																																																			-	NULL		0.537	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	protein_coding	OTTHUMT00000348915.1	G	NM_020119	-		138764595	-1	no_errors	ENST00000242351	ensembl	human	known	74_37	silent	SNP	0.001	T	T	138764595	G	T	138764595	2	4	213	1	0	0	0	0	0	0	0	1	17582	987	35	3		3	ZC3HAV1	7	138764595	Silent	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09		138764595	20374068	23	17426											
PCM1	5108	genome.wustl.edu	37	chr8	17810512	17810512	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacaatagaagacaggcaGaaagtctttcattaactagg	9	7	2	4	rs375635025		TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr8:17810512G>T	ENST00000519253.1	+	9	1356	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	PCM1_ENST00000518537.1_Nonsense_Mutation_p.E408*|PCM1_ENST00000325083.8_Nonsense_Mutation_p.E369*|PCM1_ENST00000524226.1_Nonsense_Mutation_p.E369*			Q15154	PCM1_HUMAN	pericentriolar material 1	369					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGACAGGCAGAAAGTCTTTC	0.358			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0								ENSG00000078674						41	37	39					8																	17810512		1817	4082	5899	PCM1	SO:0001587	stop_gained	0			-	HGNC		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1105G>T	8.37:g.17810512G>T	ENSP00000431099:p.Glu369*	Somatic	0	55	0		0.41204293964108	55	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP							NULL	p.E369*	ENST00000519253.1	37	c.1105		8	.	.	.	.	.	.	.	.	.	.	G	32	5.122270	0.94429	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	.	.	.	5.28	5.28	0.74379	.	0.044247	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-19.9898	18.2963	0.90147	0.0:0.0:1.0:0.0	.	.	.	.	X	369;408;408;408;369;369;369	.	ENSP00000327077:E369X	E	+	1	0	PCM1	17854792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.175000	0.77632	2.658000	0.90341	0.585000	0.79938	GAA	-	NULL		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	protein_coding	OTTHUMT00000374800.1	G	NM_006197	-		17810512	1	no_errors	ENST00000325083	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	17810512	G	T	17810512	4	4	213	1	0	0	0	0	0	1	0	0	11586	943	33	3	1131	3	PCM1	8	17810512	Nonsense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09		17810512	128553510	24	17427											
ST18	9705	genome.wustl.edu	37	chr8	53084453	53084453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatccagctctttgtagGtgttatggaaaacacaacct	7	10	1	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr8:53084453G>A	ENST00000276480.7	-	10	1651	c.968C>T	c.(967-969)aCc>aTc	p.T323I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	323					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCTTTGTAGGTGTTATGGAA	0.478																																																	0								ENSG00000147488						116	108	111					8																	53084453		2203	4300	6503	ST18	SO:0001583	missense	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.968C>T	8.37:g.53084453G>A	ENSP00000276480:p.Thr323Ile	Somatic	0	95	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q17RY1	Missense_Mutation	SNP							pfam_Myelin_TF,pfam_Znf_C2HC	p.T323I	ENST00000276480.7	37	c.968	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265224	0.80358	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.46063	0.9;0.88	5.72	4.84	0.62591	.	0.097482	0.64402	D	0.000001	T	0.60663	0.2286	M	0.65975	2.015	0.47949	D	0.999551	D	0.69078	0.997	D	0.63033	0.91	T	0.63651	-0.6589	10	0.51188	T	0.08	-9.6033	16.1358	0.81487	0.0:0.0:0.8653:0.1347	.	323	O60284	ST18_HUMAN	I	323	ENSP00000276480:T323I;ENSP00000428521:T323I	ENSP00000276480:T323I	T	-	2	0	ST18	53247006	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	6.194000	0.72082	1.397000	0.46682	0.655000	0.94253	ACC	-	NULL		0.478	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	G		-		53084453	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53084453	G	A	53084453	3	1	213	1	0	0	0	0	1	0	0	0	15219	1261	44	2	2243	2	ST18	8	53084453	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	35273941	53084453	93279569	25	17428											
LCN2	3934	genome.wustl.edu	37	chr9	130913979	130913979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagcccggcgagttcaCgctgggcaacattaagagtg	13	11	1	1	rs150975968	byFrequency	TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr9:130913979C>T	ENST00000373017.1	+	4	575	c.338C>T	c.(337-339)aCg>aTg	p.T113M	LCN2_ENST00000373013.2_Missense_Mutation_p.T115M|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Missense_Mutation_p.T115M|LCN2_ENST00000540948.1_Missense_Mutation_p.T113M|LCN2_ENST00000277480.2_Missense_Mutation_p.T113M			P80188	NGAL_HUMAN	lipocalin 2	113					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGCGAGTTCACGCTGGGCAAC	0.582													C|||	2	0.000399361	0	0.0029	5008	,	,		20739	0		0	False		,,,				2504	0																0								ENSG00000148346	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	58	51	54		338	-8.9	0	9	dbSNP_134	54	0,8600		0,0,4300	yes	missense	LCN2	NM_005564.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	113/199	130913979	1,13005	2203	4300	6503	LCN2	SO:0001583	missense	0			GMAF=0.0005	HGNC		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"Lipocalins"	6526	protein-coding gene	gene with protein product	"oncogene 24p3", "neutrophil gelatinase-associated lipocalin", "siderocalin"	600181	"lipocalin 2 (oncogene 24p3)"			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.338C>T	9.37:g.130913979C>T	ENSP00000362108:p.Thr113Met	Somatic	0	119	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln	p.T115M	ENST00000373017.1	37	c.344	CCDS6892.1	9	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.048	0.377173	0.11466	2.27E-4	0.0	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	4.48	-8.95	0.00765	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.463730	0.04186	N	0.327364	T	0.22704	0.0548	M	0.72894	2.215	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75484	0.958;0.986	T	0.54377	-0.8303	10	0.72032	D	0.01	-14.1116	9.2736	0.37686	0.104:0.5852:0.2306:0.0802	.	113;113	P80188-2;P80188	.;NGAL_HUMAN	M	113;113;115;113;115	ENSP00000362108:T113M;ENSP00000277480:T113M;ENSP00000362104:T115M;ENSP00000441666:T113M;ENSP00000362089:T115M	ENSP00000277480:T113M	T	+	2	0	LCN2	129953800	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.762000	0.00785	-3.051000	0.00260	-1.405000	0.01134	ACG	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase		0.582	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LCN2	protein_coding	OTTHUMT00000054375.1	C	NM_005564	rs150975968		130913979	1	no_errors	ENST00000372998	ensembl	human	known	74_37	missense	SNP	0.000	T	T	130913979	C	T	130913979	3	4	213	1	0	0	0	0	1	0	0	0	8686	536	19	1	348	1	LCN2	9	130913979	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		130913979	10299452	26	17429											
C10orf18	54906	genome.wustl.edu	37	chr10	5788196	5788196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacttctaatcttgtgcttTcgggtattggaagtacacaa	9	7	2	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr10:5788196T>C	ENST00000328090.5	+	15	3437	c.2812T>C	c.(2812-2814)Tcg>Ccg	p.S938P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	938																	TCTTGTGCTTTCGGGTATTGG	0.383																																																	0								ENSG00000108021						129	130	130					10																	5788196		1853	4102	5955	FAM208B	SO:0001583	missense	0			-	HGNC	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.2812T>C	10.37:g.5788196T>C	ENSP00000328426:p.Ser938Pro	Somatic	0	174	0		0.41204293964108	3	72.73	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	101	14.29	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP							pfam_DUF3715,pfam_DUF3699	p.S938P	ENST00000328090.5	37	c.2812	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	9.777	1.174323	0.21704	.	.	ENSG00000108021	ENST00000328090	D	0.98455	-4.94	5.6	4.46	0.54185	.	0.128560	0.36134	N	0.002779	D	0.95959	0.8684	L	0.43701	1.375	0.29636	N	0.845077	B	0.34161	0.439	B	0.37422	0.249	D	0.93239	0.6624	10	0.51188	T	0.08	.	8.3516	0.32305	0.0:0.0892:0.0:0.9108	.	938	Q5VWN6	F208B_HUMAN	P	938	ENSP00000328426:S938P	ENSP00000328426:S938P	S	+	1	0	C10orf18	5828202	0.110000	0.22057	0.478000	0.27316	0.222000	0.24845	0.517000	0.22832	0.934000	0.37316	0.533000	0.62120	TCG	-	pfam_DUF3715		0.383	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	protein_coding	OTTHUMT00000046571.2	T	NM_017782	-		5788196	1	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	SNP	0.962	C	C	5788196	T	C	5788196	3	2	213	1	0	0	0	0	1	0	0	0	1598	1783	62	5	2858	5	C10orf18	10	5788196	Missense_Mutation	SNP	T	TCGA-SI-A71P-01A-12D-A33E-09		5788196	129746551	27	17430											
JMJD1C	221037	genome.wustl.edu	37	chr10	64974302	64974302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatagagtgttttgaatcaCtaacattaggatccattttc	6	7	1	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr10:64974302C>A	ENST00000399262.2	-	8	1843	c.1625G>T	c.(1624-1626)aGt>aTt	p.S542I	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S323I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S323I|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S360I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	542					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)					TTTTGAATCACTAACATTAGG	0.363																																																	0								ENSG00000171988						114	104	107					10																	64974302		1835	4089	5924	JMJD1C	SO:0001583	missense	0			-	HGNC	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.1625G>T	10.37:g.64974302C>A	ENSP00000382204:p.Ser542Ile	Somatic	0	52	0		0.41204293964108	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP							pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S542I	ENST00000399262.2	37	c.1625	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955806	0.53293	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.81	2.97	0.34412	.	0.272597	0.43260	D	0.000588	T	0.55465	0.1922	L	0.54323	1.7	0.30940	N	0.725914	D;D	0.63880	0.993;0.991	P;P	0.57548	0.823;0.77	T	0.60850	-0.7181	10	0.56958	D	0.05	-4.0514	11.3913	0.49815	0.0:0.8021:0.0:0.1979	.	542;360	Q15652;A0T124	JHD2C_HUMAN;.	I	542;323;323;360	ENSP00000382204:S542I;ENSP00000384990:S323I;ENSP00000382195:S323I;ENSP00000444682:S360I	ENSP00000382195:S323I	S	-	2	0	JMJD1C	64644308	0.704000	0.27836	1.000000	0.80357	0.968000	0.65278	0.812000	0.27211	0.811000	0.34303	0.655000	0.94253	AGT	-	NULL		0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	protein_coding	OTTHUMT00000048249.2	C	NM_004241	-		64974302	-1	no_errors	ENST00000399262	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64974302	C	A	64974302	3	1	213	1	0	0	0	0	1	0	0	0	7952	565	20	3	6073	3	JMJD1C	10	64974302	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	59186106	64974302	70560445	28	17431											
ODF3	113746	genome.wustl.edu	37	chr11	197587	197587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcacacgcccaccaagCtgcgtgcaccggcctacagc	10	17	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr11:197587C>A	ENST00000325113.4	+	3	453	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	ODF3_ENST00000525282.1_Missense_Mutation_p.L46M|ODF3_ENST00000342593.5_Missense_Mutation_p.L46M|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCACCAAGCTGCGTGCACC	0.637																																																	0								ENSG00000177947						40	39	40					11																	197587		2203	4300	6503	ODF3	SO:0001583	missense	0			-	HGNC	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"cancer/testis antigen 135"	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.136C>A	11.37:g.197587C>A	ENSP00000325868:p.Leu46Met	Somatic	0	84	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B7ZLT0|Q69YX0	Missense_Mutation	SNP							pfam_SHIPPO-rpt	p.L46M	ENST00000325113.4	37	c.136	CCDS7688.1	11	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993045	0.19043	.	.	ENSG00000177947	ENST00000325113;ENST00000540150;ENST00000342593;ENST00000525282	T;T;T	0.31247	1.5;1.53;1.51	5.02	3.15	0.36227	.	0.979822	0.08319	N	0.964239	T	0.32224	0.0822	N	0.24115	0.695	0.23174	N	0.99817	P;P;P	0.52577	0.891;0.852;0.954	P;P;P	0.55222	0.694;0.653;0.771	T	0.18681	-1.0329	10	0.30078	T	0.28	-5.7958	7.8334	0.29355	0.0:0.8069:0.0:0.1931	.	46;46;46	B7ZLT0;F8W6Z3;Q96PU9	.;.;ODF3A_HUMAN	M	46	ENSP00000325868:L46M;ENSP00000339623:L46M;ENSP00000436588:L46M	ENSP00000325868:L46M	L	+	1	2	ODF3	187587	0.053000	0.20554	0.496000	0.27539	0.003000	0.03518	0.502000	0.22594	0.641000	0.30601	0.561000	0.74099	CTG	-	NULL		0.637	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3	protein_coding	OTTHUMT00000239287.1	C		-		197587	1	no_errors	ENST00000325113	ensembl	human	known	74_37	missense	SNP	0.569	A	A	197587	C	A	197587	3	1	213	1	0	0	0	0	1	0	0	0	10831	796	28	3	142	3	ODF3	11	197587	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		197587	134808929	29	17432											
SLC22A8	9376	genome.wustl.edu	37	chr11	62782355	62782355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgttgaggatcgggaGgcccagtatggctacatgca	15	9	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr11:62782355G>A	ENST00000336232.2	-	2	211	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.L26F|SLC22A8_ENST00000430500.2_Missense_Mutation_p.L26F|SLC22A8_ENST00000545207.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	26					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGGATCGGGAGGCCCAGTATG	0.617																																																	0								ENSG00000149452						177	169	172					11																	62782355		2201	4298	6499	SLC22A8	SO:0001583	missense	0			-	HGNC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.76C>T	11.37:g.62782355G>A	ENSP00000337335:p.Leu26Phe	Somatic	0	80	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.38	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L26F	ENST00000336232.2	37	c.76	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206460	0.06180	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.56611	0.45;0.45;0.45	4.76	-5.73	0.02398	.	0.694331	0.13875	N	0.356743	T	0.32556	0.0833	L	0.42744	1.35	0.26524	N	0.974376	B;B	0.12013	0.005;0.003	B;B	0.19148	0.024;0.011	T	0.21008	-1.0258	10	0.48119	T	0.1	.	1.3625	0.02194	0.3246:0.1017:0.1386:0.4352	.	26;26	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	F	26	ENSP00000337335:L26F;ENSP00000311463:L26F;ENSP00000398548:L26F	ENSP00000311463:L26F	L	-	1	0	SLC22A8	62538931	0.017000	0.18338	0.040000	0.18447	0.080000	0.17528	-0.278000	0.08490	-0.702000	0.05056	-1.047000	0.02352	CTC	-	tigrfam_Orgcat_transp		0.617	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	G	NM_004254	-		62782355	-1	no_errors	ENST00000336232	ensembl	human	known	74_37	missense	SNP	0.008	A	A	62782355	G	A	62782355	3	1	213	1	0	0	0	0	1	0	0	0	14468	1000	35	2	1592	2	SLC22A8	11	62782355	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	62584768	62782355	72224161	30	17433											
MTMR2	8898	genome.wustl.edu	37	chr11	95595500	95595500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttcctcgtacagcgccaGtgaatggacatatataagtt	10	8	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr11:95595500G>T	ENST00000346299.5	-	4	633	c.293C>A	c.(292-294)aCt>aAt	p.T98N	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000409459.1_Missense_Mutation_p.T26N|MTMR2_ENST00000352297.7_Missense_Mutation_p.T26N|MTMR2_ENST00000393223.3_Missense_Mutation_p.T26N	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	98	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGCGCCAGTGAATGGACA	0.353																																																	0								ENSG00000087053						71	70	70					11																	95595500		2201	4298	6499	MTMR2	SO:0001583	missense	0			-	HGNC	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.293C>A	11.37:g.95595500G>T	ENSP00000345752:p.Thr98Asn	Somatic	0	46	0		0.41204293964108	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NN98|Q9UPS9	Missense_Mutation	SNP							pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.T98N	ENST00000346299.5	37	c.293	CCDS8305.1	11	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251277	0.22880	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.8	5.8	0.92144	GRAM (2);	0.232813	0.51477	D	0.000090	T	0.60130	0.2245	N	0.04203	-0.255	0.39793	D	0.972461	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.59495	-0.7444	10	0.07325	T	0.83	.	15.534	0.75986	0.0:0.1375:0.8625:0.0	.	98;98	A8K5G2;Q13614	.;MTMR2_HUMAN	N	98;26;26;26;26;81	ENSP00000345752:T98N;ENSP00000376915:T26N;ENSP00000386882:T26N;ENSP00000343737:T26N;ENSP00000396020:T26N	ENSP00000345752:T98N	T	-	2	0	MTMR2	95235148	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.259000	0.51515	2.730000	0.93505	0.563000	0.77884	ACT	-	pfam_GRAM,smart_GRAM		0.353	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	protein_coding	OTTHUMT00000332620.1	G	NM_016156	-		95595500	-1	no_errors	ENST00000346299	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95595500	G	T	95595500	3	4	213	1	0	0	0	0	1	0	0	0	9946	1029	36	3	1686	3	MTMR2	11	95595500	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	32813145	95595500	39411016	31	17434											
MLL	4297	genome.wustl.edu	37	chr11	118376704	118376704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagttccaggacacgtcaCcttaaccaacccaaggttgc	8	14	2	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr11:118376704C>A	ENST00000389506.5	+	27	10088	c.10088C>A	c.(10087-10089)aCc>aAc	p.T3363N	KMT2A_ENST00000354520.4_Missense_Mutation_p.T3325N|KMT2A_ENST00000534358.1_Missense_Mutation_p.T3366N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3363					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GGACACGTCACCTTAACCAAC	0.488																																																	0								ENSG00000118058						193	194	193					11																	118376704		2200	4295	6495	KMT2A	SO:0001583	missense	0			-	HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10088C>A	11.37:g.118376704C>A	ENSP00000374157:p.Thr3363Asn	Somatic	0	59	0		0.41204293964108	22	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.00	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.T3363N	ENST00000389506.5	37	c.10088	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572438	0.28092	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82619	-1.63;-1.63;-1.59	5.92	5.92	0.95590	.	0.232366	0.45606	D	0.000343	T	0.76630	0.4014	L	0.40543	1.245	0.33613	D	0.603804	B;B	0.27559	0.181;0.181	B;B	0.20577	0.03;0.03	T	0.79690	-0.1698	10	0.45353	T	0.12	.	14.4639	0.67470	0.0:0.9302:0.0:0.0698	.	3366;3363	E9PQG7;Q03164	.;MLL1_HUMAN	N	3366;3363;3325;2273	ENSP00000436786:T3366N;ENSP00000374157:T3363N;ENSP00000346516:T3325N	ENSP00000346516:T3325N	T	+	2	0	MLL	117881914	0.993000	0.37304	0.547000	0.28179	0.745000	0.42441	5.774000	0.68906	2.809000	0.96659	0.467000	0.42956	ACC	-	pirsf_MeTrfase_trithorax		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	C	NM_005933	-		118376704	1	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	SNP	0.540	A	A	118376704	C	A	118376704	3	1	213	1	0	0	0	0	1	0	0	0	9622	507	18	3	10194	3	MLL	11	118376704	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	22781204	118376704	16629812	32	17435											
GOLGA3	2802	genome.wustl.edu	37	chr12	133349865	133349865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctccatctggcgctgcagGctgtccatctcctgcctggg	11	16	2	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr12:133349865G>T	ENST00000450791.2	-	23	4506	c.4323C>A	c.(4321-4323)agC>agA	p.S1441R	GOLGA3_ENST00000204726.3_Missense_Mutation_p.S1441R			Q08378	GOGA3_HUMAN	golgin A3	1441					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGCGCTGCAGGCTGTCCATCT	0.662																																																	0								ENSG00000090615						23	20	21					12																	133349865		2199	4288	6487	GOLGA3	SO:0001583	missense	0			-	HGNC	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4323C>A	12.37:g.133349865G>T	ENSP00000410378:p.Ser1441Arg	Somatic	0	50	0		0.41204293964108	109	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP							superfamily_Prefoldin	p.S1441R	ENST00000450791.2	37	c.4323	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119575	0.77323	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.27402	1.67;1.67	5.81	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17379	-1.0371	10	0.72032	D	0.01	.	9.3616	0.38199	0.4023:0.0:0.5977:0.0	.	1441	Q08378	GOGA3_HUMAN	R	1441	ENSP00000204726:S1441R;ENSP00000410378:S1441R	ENSP00000204726:S1441R	S	-	3	2	GOLGA3	131859938	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.289000	0.51747	0.549000	0.28973	-0.143000	0.13931	AGC	-	NULL		0.662	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	protein_coding	OTTHUMT00000397569.2	G	NM_005895	-		133349865	-1	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	SNP	1.000	T	T	133349865	G	T	133349865	3	4	213	1	0	0	0	0	1	0	0	0	6556	1194	42	3	177	3	GOLGA3	12	133349865	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09		133349865	502030	33	17436											
THTPA	79178	genome.wustl.edu	37	chr14	24026503	24026503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagatccacaggctcagCagcatgcttggtgagggaga	15	8	1	4			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr14:24026503C>A	ENST00000288014.6	+	1	1273	c.537C>A	c.(535-537)agC>agA	p.S179R	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554970.1_Intron|THTPA_ENST00000556015.1_Intron|THTPA_ENST00000404535.3_Missense_Mutation_p.S179R|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Intron|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	179	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		ACAGGCTCAGCAGCATGCTTG	0.577																																																	0								ENSG00000259431						31	25	27					14																	24026503		2203	4300	6503	THTPA	SO:0001583	missense	0			-	HGNC	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.537C>A	14.37:g.24026503C>A	ENSP00000288014:p.Ser179Arg	Somatic	0	30	0		0.41204293964108	47	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	D3DS50|G3V4J3	Missense_Mutation	SNP							pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	p.S179R	ENST00000288014.6	37	c.537	CCDS32053.1	14	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338974	0.60963	.	.	ENSG00000157306	ENST00000404535;ENST00000288014	T;T	0.41758	0.99;0.99	5.04	4.14	0.48551	CYTH domain (2);CYTH-like domain (1);	0.189795	0.56097	D	0.000025	T	0.58104	0.2099	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58358	-0.7650	10	0.51188	T	0.08	-5.898	8.4213	0.32703	0.0:0.8929:0.0:0.1071	.	179	Q9BU02	THTPA_HUMAN	R	179	ENSP00000384580:S179R;ENSP00000288014:S179R	ENSP00000288014:S179R	S	+	3	2	THTPA	23096343	0.899000	0.30636	1.000000	0.80357	0.963000	0.63663	1.267000	0.33050	1.312000	0.45043	0.561000	0.74099	AGC	-	pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase		0.577	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THTPA	protein_coding	OTTHUMT00000413800.2	C		-		24026503	1	no_errors	ENST00000288014	ensembl	human	known	74_37	missense	SNP	0.994	A	A	24026503	C	A	24026503	3	1	213	1	0	0	0	0	1	0	0	0	15888	709	25	3	539	3	THTPA	14	24026503	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		24026503	83323037	34	17437											
FSCB	84075	genome.wustl.edu	37	chr14	44975802	44975802	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacggctggtctgctgagatCtgtccatttttagttgaact	10	8	2	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr14:44975802C>A	ENST00000340446.4	-	1	680	c.389G>T	c.(388-390)aGa>aTa	p.R130I	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	130						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGAGATCTGTCCATTTT	0.423																																																	0								ENSG00000189139						194	196	195					14																	44975802		2203	4300	6503	FSCB	SO:0001583	missense	0			-	HGNC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.389G>T	14.37:g.44975802C>A	ENSP00000344579:p.Arg130Ile	Somatic	0	52	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP							NULL	p.R130I	ENST00000340446.4	37	c.389	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947788	0.53186	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.27104	1.69	5.26	5.26	0.73747	.	.	.	.	.	T	0.44498	0.1296	L	0.59436	1.845	0.42819	D	0.993982	D	0.89917	1.0	D	0.80764	0.994	T	0.37596	-0.9699	9	0.87932	D	0	-15.1677	10.2356	0.43282	0.0:0.9098:0.0:0.0902	.	130	Q5H9T9	FSCB_HUMAN	I	130	ENSP00000344579:R130I	ENSP00000344579:R130I	R	-	2	0	FSCB	44045552	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	1.106000	0.31098	2.648000	0.89879	0.561000	0.74099	AGA	-	NULL		0.423	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	protein_coding	OTTHUMT00000276788.1	C	NM_032135	-		44975802	-1	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44975802	C	A	44975802	3	1	213	1	0	0	0	0	1	0	0	0	6068	913	32	3	2092	3	FSCB	14	44975802	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	20949299	44975802	62373738	35	17438											
HIF1A	3091	genome.wustl.edu	37	chr14	62199177	62199177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagccagaagaacttttagGccgctcaatttatgaatatt	8	7	1	4			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr14:62199177G>T	ENST00000337138.4	+	7	1080	c.815G>T	c.(814-816)gGc>gTc	p.G272V	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.G273V|HIF1A_ENST00000323441.6_Missense_Mutation_p.G272V|HIF1A_ENST00000557538.1_Missense_Mutation_p.G213V|HIF1A_ENST00000539097.1_Missense_Mutation_p.G296V|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	272	Interaction with TSGA10. {ECO:0000250}.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|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, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|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)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GAACTTTTAGGCCGCTCAATT	0.318																																																	0								ENSG00000100644						139	142	141					14																	62199177		2203	4300	6503	HIF1A	SO:0001583	missense	0			-	HGNC	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.815G>T	14.37:g.62199177G>T	ENSP00000338018:p.Gly272Val	Somatic	0	31	0		0.41204293964108	462	0.21	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP							pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.G296V	ENST00000337138.4	37	c.887	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932551	0.73442	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.57	4.68	0.58851	PAS fold-3 (1);PAS (3);	0.143104	0.64402	D	0.000005	T	0.64918	0.2642	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.997	T	0.72472	-0.4283	10	0.87932	D	0	.	14.4042	0.67071	0.0711:0.0:0.9289:0.0	.	273;272;272	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	V	23;213;272;273;272;213;296	ENSP00000338018:G272V;ENSP00000378446:G273V;ENSP00000323326:G272V;ENSP00000451696:G213V;ENSP00000437955:G296V	ENSP00000323326:G272V	G	+	2	0	HIF1A	61268930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.262000	0.65501	1.348000	0.45733	0.650000	0.86243	GGC	-	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,tigrfam_PAS		0.318	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	protein_coding	OTTHUMT00000276977.2	G	NM_001530	-		62199177	1	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62199177	G	T	62199177	3	4	213	1	0	0	0	0	1	0	0	0	7105	1203	42	3	841	3	HIF1A	14	62199177	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	17223375	62199177	45150363	36	17439											
DCAF5	8816	genome.wustl.edu	37	chr14	69521851	69521851	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgtttgtcttggtagcGccgcagagcagacagacgct	15	10	1	3			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr14:69521851G>C	ENST00000341516.5	-	9	1699	c.1552C>G	c.(1552-1554)Cgc>Ggc	p.R518G	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Missense_Mutation_p.R517G|DCAF5_ENST00000554215.1_Missense_Mutation_p.R436G|DCAF5_ENST00000556847.1_Missense_Mutation_p.R436G	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	518					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCTTGGTAGCGCCGCAGAGCA	0.587																																																	0								ENSG00000139990						52	51	52					14																	69521851		2203	4300	6503	DCAF5	SO:0001583	missense	0			-	HGNC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1552C>G	14.37:g.69521851G>C	ENSP00000341351:p.Arg518Gly	Somatic	0	38	0		0.41204293964108	40	28.57	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R518G	ENST00000341516.5	37	c.1552	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565126	0.27915	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.74842	-0.88;-0.71;-0.71;-0.31	5.23	4.25	0.50352	.	0.212334	0.34555	N	0.003869	T	0.62962	0.2471	L	0.27053	0.805	0.80722	D	1	P;P	0.41748	0.761;0.649	B;B	0.38378	0.272;0.14	T	0.70963	-0.4729	10	0.87932	D	0	-15.0753	14.8422	0.70233	0.0:0.0:0.7814:0.2185	.	517;518	G3V4J7;Q96JK2	.;DCAF5_HUMAN	G	518;436;436;517	ENSP00000341351:R518G;ENSP00000451551:R436G;ENSP00000452052:R436G;ENSP00000451845:R517G	ENSP00000341351:R518G	R	-	1	0	DCAF5	68591604	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.491000	0.35583	2.431000	0.82371	0.561000	0.74099	CGC	-	NULL		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	protein_coding	OTTHUMT00000414806.2	G	NM_003861	-		69521851	-1	no_errors	ENST00000341516	ensembl	human	known	74_37	missense	SNP	0.999	C	C	69521851	G	C	69521851	3	2	213	1	0	0	0	0	1	0	0	0	4275	1087	38	4	1280	4	DCAF5	14	69521851	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	7322674	69521851	37827689	37	17440											
C14orf143	90141	genome.wustl.edu	37	chr14	90420965	90420965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgttccgagggactggcttCccacgtccgcgacctggctc	13	15	0	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr14:90420965C>T	ENST00000316738.7	-	1	68	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	TDP1_ENST00000393454.2_5'Flank|TDP1_ENST00000393452.3_5'Flank|TDP1_ENST00000335725.4_5'Flank|TDP1_ENST00000357382.3_5'Flank|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000538485.2_Missense_Mutation_p.E14K|EFCAB11_ENST00000555872.1_5'Flank|EFCAB11_ENST00000556005.1_5'Flank|EFCAB11_ENST00000556609.1_Intron|EFCAB11_ENST00000267544.9_5'UTR	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	14							calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						GGACTGGCTTCCCACGTCCGC	0.632																																																	0								ENSG00000140025						56	47	50					14																	90420965		2203	4300	6503	EFCAB11	SO:0001583	missense	0			-	HGNC	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"EF-hand domain containing"	20357	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 143"	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.40G>A	14.37:g.90420965C>T	ENSP00000326267:p.Glu14Lys	Somatic	1	267	0.37		0.41204293964108	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	150	17.49	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.E14K	ENST00000316738.7	37	c.40	CCDS9887.1	14	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726064	0.69074	.	.	ENSG00000140025	ENST00000316738;ENST00000538485	T;T	0.57436	0.4;2.93	5.51	5.51	0.81932	EF-hand-like domain (1);	0.074115	0.53938	D	0.000044	T	0.68384	0.2995	L	0.57536	1.79	0.80722	D	1	P;D	0.63880	0.518;0.993	B;D	0.72625	0.186;0.978	T	0.69161	-0.5218	10	0.72032	D	0.01	-30.2005	14.7928	0.69854	0.0:1.0:0.0:0.0	.	14;14	B7Z5G9;Q9BUY7	.;EFC11_HUMAN	K	14	ENSP00000326267:E14K;ENSP00000438072:E14K	ENSP00000326267:E14K	E	-	1	0	EFCAB11	89490718	0.077000	0.21312	0.776000	0.31678	0.484000	0.33280	1.773000	0.38563	2.873000	0.98535	0.561000	0.74099	GAA	-	NULL		0.632	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	protein_coding	OTTHUMT00000309022.2	C	NM_145231	-		90420965	-1	no_errors	ENST00000316738	ensembl	human	known	74_37	missense	SNP	0.658	T	T	90420965	C	T	90420965	3	4	213	1	0	0	0	0	1	0	0	0	1750	864	30	2	475	2	C14orf143	14	90420965	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	20899114	90420965	16928575	38	17441											
RYR3	6263	genome.wustl.edu	37	chr15	33954925	33954925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaaactcattggaaccCtgctggtcatgggcgtgttt	12	9	2	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr15:33954925C>T	ENST00000389232.4	+	35	5264	c.5194C>T	c.(5194-5196)Ctg>Ttg	p.L1732L	RYR3_ENST00000415757.3_Silent_p.L1732L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1732	4 X approximate repeats.				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)		CATTGGAACCCTGCTGGTCAT	0.577																																																	0								ENSG00000198838						101	109	107					15																	33954925		2145	4267	6412	RYR3	SO:0001819	synonymous_variant	0			-	HGNC		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.5194C>T	15.37:g.33954925C>T		Somatic	0	98	0		0.41204293964108	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	52	28.77	O15175|Q15412	Silent	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L1732	ENST00000389232.4	37	c.5194	CCDS45210.1	15																																																																																			-	NULL		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		33954925	1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	SNP	0.543	T	T	33954925	C	T	33954925	2	4	213	1	0	0	0	0	0	0	0	1	13778	680	24	2		2	RYR3	15	33954925	Silent	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		33954925	68576467	39	17442											
SIN3A	25942	genome.wustl.edu	37	chr15	75684814	75684814	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atccattcctcttaatttttGagctgctgtgttactaaaca	5	9	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr15:75684814G>C	ENST00000394947.3	-	15	2934	c.2620C>G	c.(2620-2622)Caa>Gaa	p.Q874E	SIN3A_ENST00000360439.4_Missense_Mutation_p.Q874E|SIN3A_ENST00000394949.4_Missense_Mutation_p.Q874E	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTTAATTTTTGAGCTGCTGTG	0.443																																																	0								ENSG00000169375						146	145	146					15																	75684814		2197	4294	6491	SIN3A	SO:0001583	missense	0			-	HGNC	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2620C>G	15.37:g.75684814G>C	ENSP00000378402:p.Gln874Glu	Somatic	0	56	0		0.41204293964108	48	40.74	33	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	57	26.92		Missense_Mutation	SNP							pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.Q874E	ENST00000394947.3	37	c.2620	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900738	0.17686	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.39592	1.07;1.07;1.07	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.60455	1.87	0.80722	D	1	B	0.13594	0.008	B	0.15870	0.014	T	0.40496	-0.9560	10	0.02654	T	1	-19.4734	19.0195	0.92908	0.0:0.0:1.0:0.0	.	874	Q96ST3	SIN3A_HUMAN	E	874	ENSP00000378402:Q874E;ENSP00000378403:Q874E;ENSP00000353622:Q874E	ENSP00000353622:Q874E	Q	-	1	0	SIN3A	73471867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.829000	0.99411	2.746000	0.94184	0.655000	0.94253	CAA	-	NULL		0.443	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	protein_coding	OTTHUMT00000286469.1	G	NM_015477	-		75684814	-1	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	SNP	1.000	C	C	75684814	G	C	75684814	3	2	213	1	0	0	0	0	1	0	0	0	14333	1299	45	4	1229	4	SIN3A	15	75684814	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	41729889	75684814	26846578	40	17443											
APOB48R	55911	genome.wustl.edu	37	chr16	28507458	28507458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggaggaggccgggacaGcctcaggaggggacgaggcc	22	9	1	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr16:28507458G>A	ENST00000431282.1	+	3	1079	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	APOBR_ENST00000564831.1_Missense_Mutation_p.A366T|APOBR_ENST00000328423.5_Missense_Mutation_p.A357T|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	357	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCCGGGACAGCCTCAGGAGG	0.667																																																	0								ENSG00000184730						16	19	18					16																	28507458		1959	4109	6068	APOBR	SO:0001583	missense	0			-	HGNC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1069G>A	16.37:g.28507458G>A	ENSP00000416094:p.Ala357Thr	Somatic	0	46	0		0.41204293964108	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP							NULL	p.A366T	ENST00000431282.1	37	c.1096		16	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288719	0.40494	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60299	0.2;0.2	3.92	-4.9	0.03094	.	.	.	.	.	T	0.34395	0.0896	N	0.19112	0.55	0.09310	N	1	B	0.30146	0.27	B	0.29524	0.103	T	0.20371	-1.0277	9	0.34782	T	0.22	6.3641	6.5262	0.22303	0.3857:0.1261:0.4882:0.0	.	357	Q9NS13	.	T	357	ENSP00000327669:A357T;ENSP00000416094:A357T	ENSP00000327669:A357T	A	+	1	0	APOBR	28414959	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.026000	0.01434	-0.919000	0.03803	-0.382000	0.06688	GCC	-	NULL		0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	protein_coding		G	NM_182804	-		28507458	1	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	SNP	0.002	A	A	28507458	G	A	28507458	3	1	213	1	0	0	0	0	1	0	0	0	786	971	34	2	1079	2	APOB48R	16	28507458	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09		28507458	61847295	41	17444											
RNF40	9810	genome.wustl.edu	37	chr16	30785330	30785330	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaagtgcttccacgttttCtgcttcgagtgcgtgcgggg	13	11	1	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr16:30785330C>T	ENST00000324685.6	+	20	3336	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	RNF40_ENST00000357890.5_Silent_p.F867F|RNF40_ENST00000402121.3_Silent_p.F659F|RNF40_ENST00000563683.1_Silent_p.F927F	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	967					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TCCACGTTTTCTGCTTCGAGT	0.602																																																	0								ENSG00000103549						171	126	141					16																	30785330		2197	4300	6497	RNF40	SO:0001819	synonymous_variant	0			-	HGNC	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2901C>T	16.37:g.30785330C>T		Somatic	0	88	0		0.41204293964108	166	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP							smart_Znf_RING,pfscan_Znf_RING	p.F967	ENST00000324685.6	37	c.2901	CCDS10691.1	16																																																																																			-	smart_Znf_RING,pfscan_Znf_RING		0.602	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	protein_coding	OTTHUMT00000255524.2	C	NM_014771	-		30785330	1	no_errors	ENST00000324685	ensembl	human	known	74_37	silent	SNP	1.000	T	T	30785330	C	T	30785330	2	4	213	1	0	0	0	0	0	0	0	1	13501	912	32	2		2	RNF40	16	30785330	Silent	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	2277872	30785330	59569423	42	17445											
CETP	1071	genome.wustl.edu	37	chr16	56996959	56996959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggtgatccagaccgccttCcagcgagccagctacccaga	10	15	0	3	rs201282006		TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr16:56996959C>A	ENST00000200676.3	+	2	286	c.156C>A	c.(154-156)ttC>ttA	p.F52L	CETP_ENST00000379780.2_Missense_Mutation_p.F52L|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGACCGCCTTCCAGCGAGCCA	0.627																																																	0								ENSG00000087237						98	72	81					16																	56996959		2198	4300	6498	CETP	SO:0001583	missense	0			-	HGNC	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.156C>A	16.37:g.56996959C>A	ENSP00000200676:p.Phe52Leu	Somatic	0	68	0		0.41204293964108	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.F52L	ENST00000200676.3	37	c.156	CCDS10772.1	16	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081231	0.20309	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.02446	4.29;4.29	4.68	3.72	0.42706	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	U	0.000000	T	0.05777	0.0151	L	0.36672	1.1	0.80722	D	1	D;B	0.56035	0.974;0.15	D;B	0.67725	0.953;0.412	T	0.38542	-0.9656	10	0.02654	T	1	-7.1235	9.6839	0.40087	0.0:0.9008:0.0:0.0992	.	52;52	P11597-2;P11597	.;CETP_HUMAN	L	52	ENSP00000200676:F52L;ENSP00000369106:F52L	ENSP00000200676:F52L	F	+	3	2	CETP	55554460	1.000000	0.71417	0.119000	0.21687	0.031000	0.12232	2.475000	0.45162	0.938000	0.37419	0.591000	0.81541	TTC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer		0.627	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETP	protein_coding	OTTHUMT00000257059.1	C	NM_000078	-		56996959	1	no_errors	ENST00000200676	ensembl	human	known	74_37	missense	SNP	0.997	A	A	56996959	C	A	56996959	3	1	213	1	0	0	0	0	1	0	0	0	3279	854	30	3	162	3	CETP	16	56996959	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	26211629	56996959	33357794	43	17446											
C16orf48	84080	genome.wustl.edu	37	chr16	67697350	67697350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttggtcagtgtttccaGccgctggttctcaggcatgc	12	12	2	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr16:67697350G>T	ENST00000243878.4	-	6	1174	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	285	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											AGTGTTTCCAGCCGCTGGTTC	0.701																																																	0								ENSG00000124074						38	44	42					16																	67697350		2198	4300	6498	ENKD1	SO:0001583	missense	0			-	HGNC	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.853C>A	16.37:g.67697350G>T	ENSP00000243878:p.Leu285Met	Somatic	0	38	0		0.41204293964108	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q6UWD7	Missense_Mutation	SNP							NULL	p.L285M	ENST00000243878.4	37	c.853	CCDS10844.1	16	.	.	.	.	.	.	.	.	.	.	g	16.56	3.157911	0.57368	.	.	ENSG00000124074	ENST00000243878	.	.	.	4.72	4.72	0.59763	.	0.129202	0.53938	D	0.000057	T	0.78622	0.4312	M	0.78456	2.415	0.46478	D	0.999065	D;D	0.76494	0.963;0.999	P;D	0.70016	0.812;0.967	T	0.78265	-0.2271	9	0.36615	T	0.2	-1.1495	17.4698	0.87642	0.0:0.0:1.0:0.0	.	285;167	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	M	285	.	ENSP00000243878:L285M	L	-	1	2	C16orf48	66254851	1.000000	0.71417	0.994000	0.49952	0.053000	0.15095	4.424000	0.59868	2.452000	0.82932	0.556000	0.70494	CTG	-	NULL		0.701	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENKD1	protein_coding	OTTHUMT00000268884.1	G	NM_032140	-		67697350	-1	no_errors	ENST00000243878	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67697350	G	T	67697350	3	4	213	1	0	0	0	0	1	0	0	0	1818	962	34	3	195	3	C16orf48	16	67697350	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	10700391	67697350	22657403	44	17447											
ANKRD11	29123	genome.wustl.edu	37	chr16	89348191	89348191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtccttctgggacaGcatcctctcgaagctggtca	10	14	3	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr16:89348191G>A	ENST00000301030.4	-	9	5219	c.4759C>T	c.(4759-4761)Ctg>Ttg	p.L1587L	ANKRD11_ENST00000378330.2_Silent_p.L1587L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1587	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTGGGACAGCATCCTCTCG	0.602																																																	0								ENSG00000167522						77	71	73					16																	89348191		2198	4300	6498	ANKRD11	SO:0001819	synonymous_variant	0			-	HGNC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4759C>T	16.37:g.89348191G>A		Somatic	0	43	0		0.41204293964108	107	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q6NTG1|Q6QMF8	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1587	ENST00000301030.4	37	c.4759	CCDS32513.1	16																																																																																			-	NULL		0.602	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	protein_coding	OTTHUMT00000430462.3	G	NM_013275	-		89348191	-1	no_errors	ENST00000301030	ensembl	human	known	74_37	silent	SNP	1.000	A	A	89348191	G	A	89348191	2	1	213	1	0	0	0	0	0	0	0	1	639	962	34	2		2	ANKRD11	16	89348191	Silent	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	21650841	89348191	1006562	45	17448											
KIF1C	10749	genome.wustl.edu	37	chr17	4925906	4925906	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgacaagctgacggggattCtgcaggaggtgaagctgcag	16	8	1	2			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr17:4925906C>A	ENST00000320785.5	+	22	2887	c.2530C>A	c.(2530-2532)Ctg>Atg	p.L844M	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	844					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						GACGGGGATTCTGCAGGAGGT	0.677																																					Melanoma(96;1023 1447 10250 19259 33730)												0								ENSG00000129250						30	31	31					17																	4925906		2201	4299	6500	KIF1C	SO:0001583	missense	0			-	HGNC	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.2530C>A	17.37:g.4925906C>A	ENSP00000320821:p.Leu844Met	Somatic	0	45	0		0.41204293964108	183	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L844M	ENST00000320785.5	37	c.2530	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738621	0.69304	.	.	ENSG00000129250	ENST00000320785	T	0.74632	-0.86	4.67	4.67	0.58626	.	.	.	.	.	T	0.82084	0.4960	L	0.47190	1.495	0.33128	D	0.542648	D	0.71674	0.998	D	0.77557	0.99	D	0.86117	0.1566	9	0.87932	D	0	.	15.1018	0.72284	0.0:1.0:0.0:0.0	.	844	O43896	KIF1C_HUMAN	M	844	ENSP00000320821:L844M	ENSP00000320821:L844M	L	+	1	2	KIF1C	4866630	0.281000	0.24258	1.000000	0.80357	0.999000	0.98932	0.926000	0.28804	2.436000	0.82500	0.655000	0.94253	CTG	-	NULL		0.677	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	protein_coding	OTTHUMT00000216916.1	C		-		4925906	1	no_errors	ENST00000320785	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4925906	C	A	4925906	3	1	213	1	0	0	0	0	1	0	0	0	8287	912	32	3	2608	3	KIF1C	17	4925906	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		4925906	76269304	46	17449											
NCOR1	9611	genome.wustl.edu	37	chr17	16049780	16049780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctttctttagctttcCtccgaggattattttctatt	5	8	2	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr17:16049780C>T	ENST00000268712.3	-	10	1249	c.992G>A	c.(991-993)aGg>aAg	p.R331K	NCOR1_ENST00000395851.1_Missense_Mutation_p.R331K|NCOR1_ENST00000395848.1_Missense_Mutation_p.R222K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	331	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTAGCTTTCCTCCGAGGATT	0.383																																																	0								ENSG00000141027						158	147	151					17																	16049780		2203	4300	6503	NCOR1	SO:0001583	missense	0			-	HGNC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.992G>A	17.37:g.16049780C>T	ENSP00000268712:p.Arg331Lys	Somatic	0	86	0		0.41204293964108	17	30.77	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R331K	ENST00000268712.3	37	c.992	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387515	0.61956	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.34521	1.04	0.80722	D	1	P;P;P;B;P;D	0.67145	0.719;0.719;0.719;0.402;0.534;0.996	B;B;B;B;P;D	0.76071	0.348;0.348;0.348;0.235;0.518;0.987	T	0.58434	-0.7637	10	0.46703	T	0.11	-9.6499	18.5255	0.90971	0.0:1.0:0.0:0.0	.	340;331;331;222;331;331	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	K	331;331;222;340;222;331;340	ENSP00000268712:R331K;ENSP00000379192:R331K;ENSP00000379189:R222K;ENSP00000407998:R331K;ENSP00000387727:R340K	ENSP00000268712:R331K	R	-	2	0	NCOR1	15990505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.696000	0.92011	0.561000	0.74099	AGG	-	NULL		0.383	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	protein_coding	OTTHUMT00000131751.5	C	NM_006311	-		16049780	-1	no_errors	ENST00000268712	ensembl	human	known	74_37	missense	SNP	1.000	T	T	16049780	C	T	16049780	3	4	213	1	0	0	0	0	1	0	0	0	10237	681	24	2	6478	2	NCOR1	17	16049780	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	11123874	16049780	65145430	47	17450											
NF1	4763	genome.wustl.edu	37	chr17	29541587	29541588	+	Frame_Shift_Ins	INS	-	-	A													aaactaattcatgcagatccINSaaagctcttgctttgtgtaa							TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr17:29541587_29541588insA	ENST00000358273.4	+	13	1894_1895	c.1511_1512insA	c.(1510-1515)ccaaagfs	p.PK504fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.PK504fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.PK504fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	504					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.?(5)	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)		CATGCAGATCCAAAGCTCTTGC	0.337			"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)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)						ENSG00000196712																																			NF1	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		HGNC		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.1514dupA	17.37:g.29541590_29541590dupA	ENSP00000351015:p.Pro504fs	Somatic	0	156	0		0.41204293964108	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	175	18.60	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS							pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L506fs	ENST00000358273.4	37	c.1511_1512	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.337	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	-	NM_000267			29541588	1	no_errors	ENST00000358273	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:0.999	A	A	29541588	-	A	29541587	7	5	213	1	0	1	1	0	0	0	0	0	10358	594	21	0	1561	0	NF1	17	29541587	Frame_Shift_Ins	INS	-	TCGA-SI-A71P-01A-12D-A33E-09	13491807	29541587	51653623	48	17451											
BPTF	2186	genome.wustl.edu	37	chr17	65955782	65955783	+	In_Frame_Ins	INS	-	-	GCC													cagcccctccagcccctccaINSccttcacctccccctccacc					rs60308484		TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr17:65955782_65955783insGCC	ENST00000321892.4	+	26	8491_8492	c.8430_8431insGCC	c.(8431-8433)cct>GCCcct	p.2810_2811insA	BPTF_ENST00000424123.3_In_Frame_Ins_p.2528_2529insA|BPTF_ENST00000306378.6_In_Frame_Ins_p.2684_2685insA|BPTF_ENST00000335221.5_In_Frame_Ins_p.2667_2668insA			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2810	Pro-rich.				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)			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)			cagcccctccaCCTTCACCTCC	0.589																																																	0								ENSG00000171634																																			BPTF	SO:0001652	inframe_insertion	0				HGNC	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	Exception_encountered	17.37:g.65955782_65955783insGCC	ENSP00000315454:p.Pro2810_Pro2811insAla	Somatic	0	42	0		0.41204293964108	41	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Ins	INS							pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.2810in_frame_insA	ENST00000321892.4	37	c.8430_8431		17																																																																																			-	superfamily_Bromodomain		0.589	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		-	NM_182641, NM_004459			65955783	1	no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_ins	INS	0.069:0.577	GCC	GCC	65955783	-	GCC	65955782	7	5	213	1	0	1	1	0	0	0	0	0	1497	146	6	0	8532	0	BPTF	17	65955782	In_Frame_Ins	INS	-	TCGA-SI-A71P-01A-12D-A33E-09	36414195	65955782	15239428	49	17452											
CXXC1	30827	genome.wustl.edu	37	chr18	47810148	47810148	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaggaaacacagaagAtctgcaggtctgtgtcatca	10	11	4	2	rs138609805		TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr18:47810148A>T	ENST00000285106.6	-	11	2165	c.1451T>A	c.(1450-1452)aTc>aAc	p.I484N	MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.I488N|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.I484N	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	484					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AACACAGAAGATCTGCAGGTC	0.577																																																	0								ENSG00000154832						145	123	130					18																	47810148		2203	4300	6503	CXXC1	SO:0001583	missense	0			-	HGNC	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1451T>A	18.37:g.47810148A>T	ENSP00000285106:p.Ile484Asn	Somatic	0	60	0		0.41204293964108	63	23.17	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP							pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.I488N	ENST00000285106.6	37	c.1463	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085296	0.76642	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27256	1.68;1.68	4.65	4.65	0.58169	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.977;0.987;0.985	T	0.44832	-0.9302	10	0.87932	D	0	-12.8846	12.3149	0.54951	1.0:0.0:0.0:0.0	.	488;484;351	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	N	484;488	ENSP00000285106:I484N;ENSP00000390475:I488N	ENSP00000285106:I484N	I	-	2	0	CXXC1	46064146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.508000	0.90525	1.856000	0.53863	0.383000	0.25322	ATC	-	pfam_CpG-bd_C		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	protein_coding	OTTHUMT00000255927.2	A	NM_014593	-		47810148	-1	no_errors	ENST00000412036	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47810148	A	T	47810148	3	4	213	1	0	0	0	0	1	0	0	0	4099	333	12	5	539	5	CXXC1	18	47810148	Missense_Mutation	SNP	A	TCGA-SI-A71P-01A-12D-A33E-09		47810148	30267100	50	17453											
ZNF407	55628	genome.wustl.edu	37	chr18	72346148	72346148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattactacgcggtgactcGtcgcgagatgaccaggcatg	13	11	0	3	rs368385934		TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr18:72346148G>A	ENST00000299687.5	+	1	3173	c.3173G>A	c.(3172-3174)cGt>cAt	p.R1058H	ZNF407_ENST00000309902.6_Missense_Mutation_p.R1058H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R1058H|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1058H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1058					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.R1058H(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCGGTGACTCGTCGCGAGATG	0.458													G|||	1	0.000199681	0	0	5008	,	,		20502	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	endometrium(2)						ENSG00000215421	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4064		0,0,2032	104	101	102		3173,3173,3173	4.3	0.8	18		102	1,8415		0,1,4207	no	missense,missense,missense	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	29,29,29	0,1,6239	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging	1058/1816,1058/1661,1058/2249	72346148	1,12479	2032	4208	6240	ZNF407	SO:0001583	missense	0			-	HGNC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3173G>A	18.37:g.72346148G>A	ENSP00000299687:p.Arg1058His	Somatic	0	22	0		0.41204293964108	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.R1058H	ENST00000299687.5	37	c.3173	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478642	0.44044	0.0	1.19E-4	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12569	2.67;3.17	6.16	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.355700	0.25875	N	0.027723	T	0.10294	0.0252	L	0.32530	0.975	0.28231	N	0.926098	B;B;B	0.32939	0.391;0.219;0.14	B;B;B	0.26202	0.067;0.034;0.015	T	0.13442	-1.0509	10	0.51188	T	0.08	.	9.6873	0.40107	0.2224:0.0:0.7776:0.0	.	1058;1058;1058	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	1058	ENSP00000299687:R1058H;ENSP00000310359:R1058H	ENSP00000299687:R1058H	R	+	2	0	ZNF407	70475136	1.000000	0.71417	0.821000	0.32701	0.996000	0.88848	3.181000	0.50903	-0.812000	0.04363	0.528000	0.53228	CGT	-	smart_Znf_C2H2-like,smart_Znf_U1		0.458	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	protein_coding	OTTHUMT00000444903.1	G	NM_017757	-		72346148	1	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	SNP	0.994	A	A	72346148	G	A	72346148	3	1	213	1	0	0	0	0	1	0	0	0	17894	1145	40	1	3175	1	ZNF407	18	72346148	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	24536000	72346148	5731100	51	17454											
C19orf29	58509	genome.wustl.edu	37	chr19	3624126	3624126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctccggcttcgcatccCtgagcgctgccaccgctctt	12	17	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr19:3624126C>T	ENST00000429344.2	-	2	254	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	CACTIN_ENST00000221899.3_5'UTR|CACTIN_ENST00000248420.5_Missense_Mutation_p.G68R	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	68					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTTCGCATCCCTGAGCGCTGC	0.632																																																	0								ENSG00000105298						55	65	62					19																	3624126		1999	4104	6103	CACTIN	SO:0001583	missense	0			-	HGNC	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.202G>A	19.37:g.3624126C>T	ENSP00000415078:p.Gly68Arg	Somatic	0	58	0		0.41204293964108	24	22.58	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP							pfam_Cactin_dom,pfam_Cactin_C	p.G68R	ENST00000429344.2	37	c.202	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283977	0.23392	.	.	ENSG00000105298	ENST00000429344;ENST00000248420	.	.	.	4.71	-4.18	0.03846	.	.	.	.	.	T	0.07279	0.0184	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	8	0.08837	T	0.75	.	1.2739	0.02027	0.1361:0.346:0.2668:0.2511	.	68	Q8WUQ7	CS029_HUMAN	R	68	.	ENSP00000248420:G68R	G	-	1	0	C19orf29	3575126	0.000000	0.05858	0.012000	0.15200	0.342000	0.28953	-0.526000	0.06207	-0.173000	0.10761	0.561000	0.74099	GGG	-	NULL		0.632	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	protein_coding	OTTHUMT00000457370.2	C		-		3624126	-1	no_errors	ENST00000248420	ensembl	human	known	74_37	missense	SNP	0.001	T	T	3624126	C	T	3624126	3	4	213	1	0	0	0	0	1	0	0	0	1920	681	24	2	2110	2	C19orf29	19	3624126	Missense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09		3624126	55504857	52	17455											
SYMPK	8189	genome.wustl.edu	37	chr19	46328479	46328479	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgatgtcggcgatggcttCagtgtacacggccgccagtt	13	11	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr19:46328479C>A	ENST00000245934.7	-	18	2684	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	814					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCGATGGCTTCAGTGTACACG	0.637																																																	0								ENSG00000125755						166	112	130					19																	46328479		2203	4300	6503	SYMPK	SO:0001587	stop_gained	0			-	HGNC	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2440G>T	19.37:g.46328479C>A	ENSP00000245934:p.Glu814*	Somatic	0	69	0		0.41204293964108	187	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O00521|O00689|O00733|Q59GT5|Q8N2U5	Nonsense_Mutation	SNP							pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.E814*	ENST00000245934.7	37	c.2440	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	42	9.357693	0.99147	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	15.5945	0.76569	0.0:1.0:0.0:0.0	.	.	.	.	X	814	.	ENSP00000245934:E814X	E	-	1	0	SYMPK	51020319	1.000000	0.71417	0.986000	0.45419	0.879000	0.50718	7.178000	0.77657	2.358000	0.79984	0.555000	0.69702	GAA	-	superfamily_ARM-type_fold		0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	protein_coding	OTTHUMT00000316581.1	C	NM_004819	-		46328479	-1	no_errors	ENST00000245934	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	46328479	C	A	46328479	4	1	213	1	0	0	0	0	0	1	0	0	15446	835	29	3	1424	3	SYMPK	19	46328479	Nonsense_Mutation	SNP	C	TCGA-SI-A71P-01A-12D-A33E-09	42704353	46328479	12800504	53	17456											
NLRP12	91662	genome.wustl.edu	37	chr19	54313886	54313886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccaaagccgtgggccGtgtggtgatgagcaaagata	13	9	1	3	rs112159191	byFrequency	TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr19:54313886G>A	ENST00000324134.6	-	3	1195	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NLRP12_ENST00000351894.4_Missense_Mutation_p.R343W|NLRP12_ENST00000391773.1_Missense_Mutation_p.R343W|NLRP12_ENST00000391772.1_Missense_Mutation_p.R343W|NLRP12_ENST00000345770.5_Missense_Mutation_p.R343W|NLRP12_ENST00000354278.3_Missense_Mutation_p.R343W|NLRP12_ENST00000535162.1_Missense_Mutation_p.R343W|NLRP12_ENST00000391775.3_Missense_Mutation_p.R343W	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	343	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGTGGGCCGTGTGGTGATG	0.557																																																	0								ENSG00000142405						79	84	82					19																	54313886		2203	4300	6503	NLRP12	SO:0001583	missense	0			-	HGNC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1027C>T	19.37:g.54313886G>A	ENSP00000319377:p.Arg343Trp	Somatic	0	46	0		0.41204293964108	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R343W	ENST00000324134.6	37	c.1027	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212315	0.39102	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	4.64	-2.5	0.06384	NACHT nucleoside triphosphatase (1);	0.000000	0.39759	N	0.001272	D	0.92616	0.7654	M	0.91818	3.245	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	0.90544	0.4504	10	0.87932	D	0	.	8.4404	0.32812	0.0794:0.0:0.3846:0.5361	.	343;343;343;343	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	W	343	ENSP00000319377:R343W;ENSP00000438030:R343W;ENSP00000340473:R343W;ENSP00000346231:R343W;ENSP00000375655:R343W;ENSP00000375653:R343W;ENSP00000375652:R343W	ENSP00000319377:R343W	R	-	1	2	NLRP12	59005698	0.000000	0.05858	0.646000	0.29493	0.315000	0.28087	-0.717000	0.04986	-0.148000	0.11234	-0.467000	0.05162	CGG	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	G	NM_144687	rs112159191		54313886	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	SNP	0.375	A	A	54313886	G	A	54313886	3	1	213	1	0	0	0	0	1	0	0	0	10476	1144	40	1	2286	1	NLRP12	19	54313886	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09	7985407	54313886	4815097	54	17457											
ZNF133	7692	genome.wustl.edu	37	chr20	18296306	18296306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgggggagaagccaattGtgtgcagggagtgtggacga	18	6	0	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr20:18296306G>A	ENST00000316358.4	+	4	908	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Missense_Mutation_p.V274M|ZNF133_ENST00000402618.2_Missense_Mutation_p.V208M|ZNF133_ENST00000377671.3_Missense_Mutation_p.V270M|ZNF133_ENST00000535822.1_Missense_Mutation_p.V176M|ZNF133_ENST00000538547.1_Missense_Mutation_p.V176M|ZNF133_ENST00000401790.1_Missense_Mutation_p.V271M|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	271					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						GAAGCCAATTGTGTGCAGGGA	0.547																																																	0								ENSG00000125846						74	63	67					20																	18296306		2203	4300	6503	ZNF133	SO:0001583	missense	0			-	HGNC	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.811G>A	20.37:g.18296306G>A	ENSP00000346090:p.Val271Met	Somatic	0	58	0		0.41204293964108	31	41.82	23	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	50	25.37	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V274M	ENST00000316358.4	37	c.820		20	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588688	0.46110	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.34472	2.2;2.2;1.36;2.2;1.36;1.36;2.2	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000842	T	0.39733	0.1089	N	0.16266	0.395	0.24271	N	0.995244	D;P;D;D	0.71674	0.998;0.941;0.975;0.995	D;P;P;D	0.75020	0.985;0.854;0.823;0.964	T	0.12811	-1.0533	10	0.48119	T	0.1	-19.9332	10.5004	0.44802	0.0:0.1966:0.8034:0.0	.	208;274;271;270	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	M	270;274;208;271;176;176;271	ENSP00000366899:V270M;ENSP00000400897:V274M;ENSP00000385279:V208M;ENSP00000383945:V271M;ENSP00000442978:V176M;ENSP00000439427:V176M;ENSP00000346090:V271M	ENSP00000346090:V271M	V	+	1	0	ZNF133	18244306	0.000000	0.05858	0.977000	0.42913	0.895000	0.52256	-0.601000	0.05687	2.667000	0.90743	0.561000	0.74099	GTG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	protein_coding	OTTHUMT00000127616.1	G	NM_003434	-		18296306	1	no_errors	ENST00000396026	ensembl	human	known	74_37	missense	SNP	0.891	A	A	18296306	G	A	18296306	3	1	213	1	0	0	0	0	1	0	0	0	17730	1377	48	2	818	2	ZNF133	20	18296306	Missense_Mutation	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09		18296306	44729214	55	17458											
PTTG1IP	754	genome.wustl.edu	37	chr21	46276197	46276197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctcctcttcctcctgcaGcagcagcagcagcagatggc	11	16	1	1			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr21:46276197G>A	ENST00000330938.3	-	4	580	c.360C>T	c.(358-360)tgC>tgT	p.C120C	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_Silent_p.C99C	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	120	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCCTCCTGCAGCAGCAGCAGC	0.612																																																	0								ENSG00000183255						112	90	97					21																	46276197		2203	4300	6503	PTTG1IP	SO:0001819	synonymous_variant	0			-	HGNC	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.360C>T	21.37:g.46276197G>A		Somatic	0	107	0		0.41204293964108	589	23.38	180	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	77	10.34	B2RDP7|D3DSL9|Q9NS09	Silent	SNP							smart_Plexin-like_fold	p.C120	ENST00000330938.3	37	c.360	CCDS13715.1	21																																																																																			-	NULL		0.612	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1IP	protein_coding	OTTHUMT00000206553.1	G		-		46276197	-1	no_errors	ENST00000330938	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46276197	G	A	46276197	2	1	213	1	0	0	0	0	0	0	0	1	12828	963	34	2		2	PTTG1IP	21	46276197	Silent	SNP	G	TCGA-SI-A71P-01A-12D-A33E-09		46276197	1853698	56	17459											
MYH9	4627	genome.wustl.edu	37	chr22	36688042	36688042	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccacacacctggtcaaacTtcttctgcttcttctccagg	7	15	5	0			TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chr22:36688042T>G	ENST00000216181.5	-	31	4564	c.4334A>C	c.(4333-4335)aAg>aCg	p.K1445T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1445					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTCAAACTTCTTCTGCTT	0.592			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0								ENSG00000100345						75	67	70					22																	36688042		2203	4300	6503	MYH9	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4334A>C	22.37:g.36688042T>G	ENSP00000216181:p.Lys1445Thr	Somatic	0	67	0		0.41204293964108	499	19.26	119	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	28	31.71	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1445T	ENST00000216181.5	37	c.4334	CCDS13927.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.505516|4.505516	0.85282|0.85282	.|.	.|.	ENSG00000100345|ENSG00000100345	ENST00000337818;ENST00000216181|ENST00000397231	D|.	0.85629|.	-2.01|.	4.8|4.8	4.8|4.8	0.61643|0.61643	Myosin tail (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74604|0.74604	0.3738|0.3738	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	D|.	0.64144|.	0.922|.	T|T	0.77672|0.77672	-0.2500|-0.2500	10|6	0.72032|0.56958	D|D	0.01|0.05	.|.	14.631|14.631	0.68655|0.68655	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1445|.	P35579|.	MYH9_HUMAN|.	T|R	867;1445|48	ENSP00000216181:K1445T|.	ENSP00000216181:K1445T|ENSP00000380408:S48R	K|S	-|-	2|1	0|0	MYH9|MYH9	35017988|35017988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.919000|7.919000	0.87513|0.87513	1.906000|1.906000	0.55180|0.55180	0.379000|0.379000	0.24179|0.24179	AAG|AGT	-	pfam_Myosin_tail		0.592	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	T	NM_002473	-		36688042	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	SNP	1.000	G	G	36688042	T	G	36688042	3	3	213	1	0	0	0	0	1	0	0	0	10044	1609	56	5	1592	5	MYH9	22	36688042	Missense_Mutation	SNP	T	TCGA-SI-A71P-01A-12D-A33E-09		36688042	14616524	57	17460											
ZMYM3	9203	genome.wustl.edu	37	chrX	70465194	70465194	+	Frame_Shift_Del	DEL	G	G	-													tccaatcttactcactcttaGggaagtctgcctccaagtct							TCGA-SI-A71P-01A-12D-A33E-09	TCGA-SI-A71P-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	666434c3-057c-46d5-875f-5243314915c1	a4b6f436-9bf6-4964-a64b-b792e75e0697	g.chrX:70465194delG	ENST00000353904.2	-	18	3189	c.3002delC	c.(3001-3003)cctfs	p.P1001fs	ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P1003fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P1003fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.P989fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P1001fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1001					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCACTCTTAGGGAAGTCTGC	0.532																																																	0								ENSG00000147130						108	77	87					X																	70465194		2203	4300	6503	ZMYM3	SO:0001589	frameshift_variant	0				HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3002delC	X.37:g.70465194delG	ENSP00000343909:p.Pro1001fs	Somatic	0	33	0		0.41204293964108	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.P1003fs	ENST00000353904.2	37	c.3008	CCDS14409.1	X																																																																																			-	NULL		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	G	NM_201599			70465194	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70465194	G	-	70465194	7	5	213	1	0	1	0	1	0	0	0	0	17708	1000	35	0	1142	0	ZMYM3	23	70465194	Frame_Shift_Del	DEL	G	TCGA-SI-A71P-01A-12D-A33E-09		70465194	84805366	58	17461											
SLC2A5	6518	genome.wustl.edu	37	chr1	9097956	9097956	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccccgggccccactcacCtggatgaacgggaagatcaa	13	14	2	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:9097956C>A	ENST00000377424.4	-	11	1481	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	SLC2A5_ENST00000536305.1_Splice_Site_p.Q375H|SLC2A5_ENST00000535586.1_Splice_Site_p.Q319H	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	434					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACTCACCTGGATGAACG	0.627																																																	0								ENSG00000142583						58	55	56					1																	9097956		2203	4300	6503	SLC2A5	SO:0001630	splice_region_variant	0			-	HGNC	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1302+1G>T	1.37:g.9097956C>A		Somatic	0	67	0		0.591229292315791	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt	p.Q434H	ENST00000377424.4	37	c.1302	CCDS99.1	1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653714	0.47362	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.58652	0.32;0.32;0.32	5.65	-1.74	0.08056	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.179262	0.50627	D	0.000116	T	0.75384	0.3842	M	0.89353	3.025	0.43095	D	0.994772	D;D;D	0.63046	0.992;0.99;0.961	P;D;P	0.67103	0.878;0.949;0.878	T	0.77635	-0.2514	9	.	.	.	.	14.7243	0.69332	0.0:0.8758:0.0:0.1242	.	390;375;434	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	H	434;417;375;319	ENSP00000366641:Q434H;ENSP00000440688:Q375H;ENSP00000442744:Q319H	.	Q	-	3	2	SLC2A5	9020543	0.998000	0.40836	0.436000	0.26797	0.089000	0.18198	1.102000	0.31050	-0.673000	0.05259	0.655000	0.94253	CAG	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.627	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A5	protein_coding	OTTHUMT00000004932.1	C	NM_003039	-	Missense_Mutation	9097956	-1	no_errors	ENST00000377424	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9097956	C	A	9097956	5	1	214	1	0	0	0	0	0	0	1	0	14556	695	24	3	211	3	SLC2A5	1	9097956	Splice_Site	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09		9097956	240152665	1	17462											
EIF4G3	8672	genome.wustl.edu	37	chr1	21307715	21307715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctgtatttgaggcctctgGaaaaactgggaaggggagaa	16	5	1	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:21307715G>T	ENST00000264211.8	-	3	230	c.36C>A	c.(34-36)ttC>ttA	p.F12L	EIF4G3_ENST00000374927.4_Missense_Mutation_p.F12L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.F23L|EIF4G3_ENST00000602326.1_Missense_Mutation_p.F19L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.F19L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.F12L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.F12L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	12					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAGGCCTCTGGAAAAACTGGG	0.408																																																	0								ENSG00000075151						63	61	62					1																	21307715		2203	4300	6503	EIF4G3	SO:0001583	missense	0			-	HGNC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.36C>A	1.37:g.21307715G>T	ENSP00000264211:p.Phe12Leu	Somatic	0	32	0		0.591229292315791	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	10.81	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP							pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.F19L	ENST00000264211.8	37	c.57	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311323	0.60414	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.97	3.79	0.43588	.	0.106752	0.64402	D	0.000004	T	0.38108	0.1028	L	0.50333	1.59	0.58432	D	0.999996	D;D;D;D;D;D	0.71674	0.998;0.997;0.982;0.99;0.997;0.997	D;D;D;D;D;D	0.80764	0.994;0.97;0.952;0.979;0.97;0.97	T	0.14839	-1.0458	10	0.56958	D	0.05	-9.7188	12.2398	0.54536	0.2026:0.0:0.7974:0.0	.	12;208;12;138;19;12	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	L	12;209;12;12;19;138;12;23;12;50	ENSP00000264211:F12L;ENSP00000383274:F12L;ENSP00000364071:F12L;ENSP00000364073:F19L;ENSP00000364062:F12L;ENSP00000395381:F12L;ENSP00000396083:F50L	ENSP00000264211:F12L	F	-	3	2	EIF4G3	21180302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.948000	0.40303	1.541000	0.49316	0.650000	0.86243	TTC	-	NULL		0.408	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	G	NM_003760	-		21307715	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21307715	G	T	21307715	3	4	214	1	0	0	0	0	1	0	0	0	5040	1165	41	3	4837	3	EIF4G3	1	21307715	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	12209759	21307715	227942906	2	17463											
ARID1A	8289	genome.wustl.edu	37	chr1	27106528	27106528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgagctgcaacaaagtgGagtggtggtgggactgcttg	19	5	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:27106528G>A	ENST00000324856.7	+	20	6510	c.6139G>A	c.(6139-6141)Gag>Aag	p.E2047K	ARID1A_ENST00000457599.2_Missense_Mutation_p.E1830K|ARID1A_ENST00000540690.1_Missense_Mutation_p.E375K|ARID1A_ENST00000374152.2_Missense_Mutation_p.E1664K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2047					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)	p.E2047*(3)	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)		CAACAAAGTGGAGTGGTGGTG	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Substitution - Nonsense(3)	endometrium(2)|ovary(1)						ENSG00000117713						153	152	152					1																	27106528		2203	4300	6503	ARID1A	SO:0001583	missense	0			-	HGNC	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.6139G>A	1.37:g.27106528G>A	ENSP00000320485:p.Glu2047Lys	Somatic	0	53	0		0.591229292315791	126	45.92	107	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	31	39.22	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP							pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E2047K	ENST00000324856.7	37	c.6139	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.147329|4.147329	0.77888|0.77888	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19|.	5.0|5.0	4.08|4.08	0.47627|0.47627	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75140|0.75140	0.3809|0.3809	M|M	0.79475|0.79475	2.455|2.455	0.54753|0.54753	D|D	0.999986|0.999986	D;D;D|.	0.61697|.	0.986;0.99;0.972|.	P;P;P|.	0.60173|.	0.737;0.87;0.737|.	T|T	0.77466|0.77466	-0.2577|-0.2577	10|5	0.54805|.	T|.	0.06|.	-13.4302|-13.4302	15.2799|15.2799	0.73773|0.73773	0.0:0.0:0.8588:0.1412|0.0:0.0:0.8588:0.1412	.|.	1664;2047;1830|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	K|E	2047;1830;1664;375|943	ENSP00000320485:E2047K;ENSP00000387636:E1830K;ENSP00000363267:E1664K;ENSP00000442437:E375K|.	ENSP00000320485:E2047K|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26979115|26979115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.020000|9.020000	0.93667|0.93667	1.460000|1.460000	0.47911|0.47911	0.591000|0.591000	0.81541|0.81541	GAG|GGA	-	pfam_DUF3518		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	G	NM_139135	-		27106528	1	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27106528	G	A	27106528	3	1	214	1	0	0	0	0	1	0	0	0	913	1175	41	2	6217	2	ARID1A	1	27106528	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	5798813	27106528	222144093	3	17464											
DLGAP3	58512	genome.wustl.edu	37	chr1	35351792	35351792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgcatgcggaaacagCcgggcaggtccagggcgtcc	16	14	0	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:35351792C>T	ENST00000373347.1	-	6	1749	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G494D			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	494					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			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)				GCGGAAACAGCCGGGCAGGTC	0.687																																																	0								ENSG00000116544						17	21	19					1																	35351792		2199	4296	6495	DLGAP3	SO:0001583	missense	0			-	HGNC	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.1481G>A	1.37:g.35351792C>T	ENSP00000362444:p.Gly494Asp	Somatic	0	42	0		0.591229292315791	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q5TDD5|Q9H3X7	Missense_Mutation	SNP							pfam_GKAP	p.G494D	ENST00000373347.1	37	c.1481	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.440685	0.96168	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	D;D	0.88586	-2.4;-2.4	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93897	0.8047	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	P	0.61874	0.895	D	0.94503	0.7711	10	0.87932	D	0	-19.7087	18.6083	0.91275	0.0:1.0:0.0:0.0	.	494	O95886	DLGP3_HUMAN	D	494	ENSP00000362444:G494D;ENSP00000235180:G494D	ENSP00000235180:G494D	G	-	2	0	DLGAP3	35124379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.872000	0.69636	2.625000	0.88918	0.555000	0.69702	GGC	-	NULL		0.687	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	protein_coding	OTTHUMT00000011554.1	C	NM_021234	-		35351792	-1	no_errors	ENST00000235180	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35351792	C	T	35351792	3	4	214	1	0	0	0	0	1	0	0	0	4563	739	26	2	1486	2	DLGAP3	1	35351792	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	8245264	35351792	213898829	4	17465											
OSCP1	127700	genome.wustl.edu	37	chr1	36888990	36888990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcctggaacttcagttccCcaaggaacaggcccggacac	10	14	1	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:36888990C>A	ENST00000356637.5	-	6	687	c.624G>T	c.(622-624)tgG>tgT	p.W208C	OSCP1_ENST00000315643.9_Missense_Mutation_p.W208C|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.W153C|OSCP1_ENST00000235532.5_Missense_Mutation_p.W198C			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	208					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CTTCAGTTCCCCAAGGAACAG	0.463																																																	0								ENSG00000116885						88	90	89					1																	36888990		2203	4300	6503	OSCP1	SO:0001583	missense	0			-	HGNC		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"oxidored nitro domain containing protein"	608854	"chromosome 1 open reading frame 102"	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.624G>T	1.37:g.36888990C>A	ENSP00000349052:p.Trp208Cys	Somatic	0	46	0		0.591229292315791	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	46	11.54	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP							pfam_OSCP1	p.W198C	ENST00000356637.5	37	c.594		1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.619973	0.28801	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643	T;T;T;T;T	0.30448	1.95;1.96;1.54;1.53;1.95	5.34	5.34	0.76211	.	0.264107	0.41194	D	0.000939	T	0.34019	0.0883	L	0.59912	1.85	0.58432	D	0.999999	B;B	0.16802	0.019;0.011	B;B	0.16722	0.016;0.007	T	0.06935	-1.0799	10	0.32370	T	0.25	.	18.0306	0.89282	0.0:1.0:0.0:0.0	.	198;208	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	C	198;208;153;168;208	ENSP00000235532:W198C;ENSP00000349052:W208C;ENSP00000390820:W153C;ENSP00000396417:W168C;ENSP00000314541:W208C	ENSP00000235532:W198C	W	-	3	0	OSCP1	36661577	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.471000	0.60182	2.511000	0.84671	0.650000	0.86243	TGG	-	NULL		0.463	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	protein_coding	OTTHUMT00000389759.1	C	NM_145047	-		36888990	-1	no_errors	ENST00000235532	ensembl	human	known	74_37	missense	SNP	1.000	A	A	36888990	C	A	36888990	3	1	214	1	0	0	0	0	1	0	0	0	11288	624	22	3	569	3	OSCP1	1	36888990	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	1537198	36888990	212361631	5	17466											
CTPS	1503	genome.wustl.edu	37	chr1	41461588	41461588	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttgcttttttctaaacaGgtgatctgtgtccacgatgt	8	8	2	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:41461588G>T	ENST00000372621.4	+	8	1228		c.e8-1		CTPS1_ENST00000543104.1_Splice_Site|CTPS1_ENST00000372616.1_Splice_Site|CTPS1_ENST00000541520.1_Splice_Site	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TTTCTAAACAGGTGATCTGTG	0.388																																																	0								ENSG00000171793						88	93	91					1																	41461588		2203	4300	6503	CTPS1	SO:0001630	splice_region_variant	0			-	HGNC	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.721-1G>T	1.37:g.41461588G>T		Somatic	0	46	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Splice_Site	SNP							-	e7-1	ENST00000372621.4	37	c.721-1	CCDS459.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982345	0.74474	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.718	0.88343	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTPS	41234175	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.450000	0.97607	2.521000	0.84997	0.563000	0.77884	.	-	-		0.388	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	protein_coding	OTTHUMT00000015629.1	G	NM_001905	-	Intron	41461588	1	no_errors	ENST00000372616	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	41461588	G	T	41461588	5	4	214	1	0	0	0	0	0	0	1	0	4024	1014	35	3	746	3	CTPS	1	41461588	Splice_Site	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	4572598	41461588	207789033	6	17467											
BSND	7809	genome.wustl.edu	37	chr1	55464975	55464975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctacggcaccttctatgCcatgggcagcgtcatggtga	13	11	3	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:55464975C>T	ENST00000371265.4	+	1	370	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	39					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTTCTATGCCATGGGCAGC	0.617																																					Ovarian(191;1657 2078 22894 42033 48899)												0								ENSG00000162399						92	80	84					1																	55464975		2203	4300	6503	BSND	SO:0001583	missense	0			-	HGNC	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.116C>T	1.37:g.55464975C>T	ENSP00000360312:p.Ala39Val	Somatic	0	69	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q6NT28	Missense_Mutation	SNP							NULL	p.A39V	ENST00000371265.4	37	c.116	CCDS602.1	1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241629	0.39598	.	.	ENSG00000162399	ENST00000371265	T	0.66995	-0.24	4.44	3.51	0.40186	.	0.122641	0.35291	N	0.003307	T	0.63593	0.2524	M	0.70595	2.14	0.37606	D	0.920744	P	0.46142	0.873	B	0.40101	0.319	T	0.72004	-0.4421	10	0.40728	T	0.16	-20.737	12.9175	0.58214	0.0:0.9139:0.0:0.0861	.	39	Q8WZ55	BSND_HUMAN	V	39	ENSP00000360312:A39V	ENSP00000360312:A39V	A	+	2	0	BSND	55237563	0.997000	0.39634	1.000000	0.80357	0.611000	0.37282	1.948000	0.40303	2.194000	0.70268	0.478000	0.44815	GCC	-	NULL		0.617	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	protein_coding	OTTHUMT00000022213.4	C	NM_057176	-		55464975	1	no_errors	ENST00000371265	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55464975	C	T	55464975	3	4	214	1	0	0	0	0	1	0	0	0	1533	739	26	2	118	2	BSND	1	55464975	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	14003387	55464975	193785646	7	17468											
FUBP1	8880	genome.wustl.edu	37	chr1	78429257	78429257	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaagagtttaaaatacattGccttttcctattattaatcc	3	7	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:78429257G>T	ENST00000370768.2	-	13	1265		c.e13+1		FUBP1_ENST00000370767.1_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AAAATACATTGCCTTTTCCTA	0.373			"F, N"		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0								ENSG00000162613						65	69	67					1																	78429257		2203	4300	6503	FUBP1	SO:0001630	splice_region_variant	0			-	HGNC	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1183+1C>A	1.37:g.78429257G>T		Somatic	0	27	0		0.591229292315791	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q12828	Splice_Site	SNP							-	e14+2	ENST00000370768.2	37	c.1246+2	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644439	0.47258	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.64	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1991	0.31413	0.3798:0.0:0.6202:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FUBP1	78201845	0.998000	0.40836	1.000000	0.80357	0.959000	0.62525	0.580000	0.23803	0.348000	0.23949	-0.136000	0.14681	.	-	-		0.373	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	protein_coding	OTTHUMT00000098030.3	G	NM_003902	-	Intron	78429257	-1	no_errors	ENST00000436586	ensembl	human	known	74_37	splice_site	SNP	0.999	T	T	78429257	G	T	78429257	5	4	214	1	0	0	0	0	0	0	1	0	6094	1333	46	3	781	3	FUBP1	1	78429257	Splice_Site	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	22964282	78429257	170821364	8	17469											
FMOD	2331	genome.wustl.edu	37	chr1	203316940	203316940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctctccaggtgcctcagCttggagaagaccttcctgcc	10	15	2	2	rs183197075		TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr1:203316940C>A	ENST00000354955.4	-	2	922	c.459G>T	c.(457-459)aaG>aaT	p.K153N	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	153					carbohydrate metabolic process (GO:0005975)|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)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTGCCTCAGCTTGGAGAAGA	0.592																																																	0								ENSG00000122176						91	90	90					1																	203316940		2203	4300	6503	FMOD	SO:0001583	missense	0			-	HGNC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.459G>T	1.37:g.203316940C>A	ENSP00000347041:p.Lys153Asn	Somatic	0	35	0		0.591229292315791	2532	0.2	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q15331|Q8IV47	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.K153N	ENST00000354955.4	37	c.459	CCDS30976.1	1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590169	0.66105	.	.	ENSG00000122176	ENST00000435105;ENST00000354955;ENST00000539467	T	0.55588	0.51	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	N	0.21324	0.655	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	T	0.60672	-0.7217	10	0.72032	D	0.01	-19.1085	11.2396	0.48962	0.0:0.9162:0.0:0.0838	.	153	Q06828	FMOD_HUMAN	N	140;153;133	ENSP00000347041:K153N	ENSP00000347041:K153N	K	-	3	2	FMOD	201583563	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.115000	0.31209	2.525000	0.85131	0.655000	0.94253	AAG	-	NULL		0.592	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	protein_coding	OTTHUMT00000087472.1	C	NM_002023	-		203316940	-1	no_errors	ENST00000354955	ensembl	human	known	74_37	missense	SNP	1.000	A	A	203316940	C	A	203316940	3	1	214	1	0	0	0	0	1	0	0	0	5961	796	28	3	679	3	FMOD	1	203316940	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	124887683	203316940	45933681	9	17470											
GALNT14	79623	genome.wustl.edu	37	chr2	31168687	31168687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactcgatgtaggtgaagGtgtccaggttaatgatatcg	13	6	0	3	rs370991103		TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:31168687G>A	ENST00000349752.5	-	7	1343	c.704C>T	c.(703-705)aCc>aTc	p.T235I	GALNT14_ENST00000356174.3_Missense_Mutation_p.T202I|GALNT14_ENST00000324589.5_Missense_Mutation_p.T240I|GALNT14_ENST00000406653.1_Missense_Mutation_p.T215I|GALNT14_ENST00000420311.2_Missense_Mutation_p.T200I|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	235					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTAGGTGAAGGTGTCCAGGTT	0.532																																																	0								ENSG00000158089	G	ILE/THR	0,4406		0,0,2203	106	84	91		704	1.7	1	2		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GALNT14	NM_024572.2	89	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	235/553	31168687	2,13004	2203	4300	6503	GALNT14	SO:0001583	missense	0			-	HGNC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.704C>T	2.37:g.31168687G>A	ENSP00000288988:p.Thr235Ile	Somatic	0	42	0		0.591229292315791	51	35.44	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	56	34.12	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T235I	ENST00000349752.5	37	c.704	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215495	0.79352	0.0	2.33E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	4.85	1.73	0.24493	Glycosyl transferase, family 2 (1);	0.105465	0.64402	D	0.000005	T	0.80644	0.4662	H	0.95712	3.71	0.53688	D	0.999976	P;D;D;P;D	0.64830	0.917;0.966;0.994;0.921;0.991	P;P;D;D;D	0.67725	0.697;0.836;0.928;0.912;0.953	D	0.84536	0.0636	10	0.87932	D	0	.	13.4737	0.61295	0.0:0.0:0.5342:0.4658	.	200;202;240;235;215	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	I	235;240;215;202;200;202	ENSP00000288988:T235I;ENSP00000314500:T240I;ENSP00000385435:T215I;ENSP00000348497:T202I;ENSP00000415514:T200I;ENSP00000406399:T202I	ENSP00000314500:T240I	T	-	2	0	GALNT14	31022191	0.960000	0.32886	0.994000	0.49952	0.964000	0.63967	1.001000	0.29783	0.086000	0.17137	0.455000	0.32223	ACC	-	pfam_Glyco_trans_2		0.532	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	G	NM_024572	-		31168687	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	SNP	0.998	A	A	31168687	G	A	31168687	3	1	214	1	0	0	0	0	1	0	0	0	6214	1261	44	2	990	2	GALNT14	2	31168687	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		31168687	212030686	10	17471											
TGFBRAP1	9392	genome.wustl.edu	37	chr2	105896857	105896857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttttgtgcttctctagcCaggcagcactgtccgtcaga	9	12	2	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:105896857C>A	ENST00000393359.2	-	6	1871	c.1445G>T	c.(1444-1446)tGg>tTg	p.W482L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.W482L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	482					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTTCTCTAGCCAGGCAGCACT	0.547																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0								ENSG00000135966						69	53	59					2																	105896857		2203	4300	6503	TGFBRAP1	SO:0001583	missense	0			-	HGNC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1445G>T	2.37:g.105896857C>A	ENSP00000377027:p.Trp482Leu	Somatic	0	31	0		0.591229292315791	42	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.33	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP							pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.W482L	ENST00000393359.2	37	c.1445	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622296	0.66787	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.38240	1.15;1.15	5.41	5.41	0.78517	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1 (1);	0.059022	0.64402	D	0.000001	T	0.40886	0.1135	L	0.55103	1.725	0.80722	D	1	P	0.39624	0.681	P	0.45232	0.474	T	0.15896	-1.0421	10	0.06891	T	0.86	-15.6839	19.2011	0.93712	0.0:1.0:0.0:0.0	.	482	Q8WUH2	TGFA1_HUMAN	L	482	ENSP00000377027:W482L;ENSP00000258449:W482L	ENSP00000258449:W482L	W	-	2	0	TGFBRAP1	105263289	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.022000	0.70839	2.523000	0.85059	0.650000	0.86243	TGG	-	pfam_VPS39/TGF_beta_rcpt-assoc_1		0.547	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	protein_coding	OTTHUMT00000253354.2	C	NM_004257	-		105896857	-1	no_errors	ENST00000258449	ensembl	human	known	74_37	missense	SNP	1.000	A	A	105896857	C	A	105896857	3	1	214	1	0	0	0	0	1	0	0	0	15831	595	21	3	1165	3	TGFBRAP1	2	105896857	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	74728170	105896857	137302516	11	17472											
PTPN4	5775	genome.wustl.edu	37	chr2	120704097	120704097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattctctttttaagggaGgatatgatcagaagatgcct	9	6	2	3			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:120704097G>A	ENST00000263708.2	+	18	2374	c.1603G>A	c.(1603-1605)Gga>Aga	p.G535R	PTPN4_ENST00000544261.1_Missense_Mutation_p.G168R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	535	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTTAAGGGAGGATATGATCA	0.299																																																	0								ENSG00000088179						101	101	101					2																	120704097		2203	4299	6502	PTPN4	SO:0001583	missense	0			-	HGNC		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1603G>A	2.37:g.120704097G>A	ENSP00000263708:p.Gly535Arg	Somatic	0	53	0		0.591229292315791	15	28.57	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	76	21.65	B2RBV8|Q9UDA7	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.G535R	ENST00000263708.2	37	c.1603	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371536	0.82573	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.31769	1.48;1.48;1.48	5.09	5.09	0.68999	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81195	-0.1043	10	0.87932	D	0	.	18.8463	0.92208	0.0:0.0:1.0:0.0	.	535	P29074	PTN4_HUMAN	R	535;168;161	ENSP00000263708:G535R;ENSP00000445841:G168R;ENSP00000387457:G161R	ENSP00000263708:G535R	G	+	1	0	PTPN4	120420567	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.522000	0.73783	2.513000	0.84729	0.591000	0.81541	GGA	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_PDZ		0.299	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	protein_coding	OTTHUMT00000254233.2	G		-		120704097	1	no_errors	ENST00000263708	ensembl	human	known	74_37	missense	SNP	1.000	A	A	120704097	G	A	120704097	3	1	214	1	0	0	0	0	1	0	0	0	12798	1001	35	2	1669	2	PTPN4	2	120704097	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	14807240	120704097	122495276	12	17473											
KCNH7	90134	genome.wustl.edu	37	chr2	163256864	163256864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaacctttacttgcccCccgaaaggctttgcagtttt	8	12	0	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:163256864C>A	ENST00000332142.5	-	10	2341	c.2242G>T	c.(2242-2244)Ggg>Tgg	p.G748W		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	748					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G748W(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTACTTGCCCCCCGAAAGGCT	0.483																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	lung(1)						ENSG00000184611						131	134	133					2																	163256864		2203	4300	6503	KCNH7	SO:0001583	missense	0			-	HGNC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2242G>T	2.37:g.163256864C>A	ENSP00000331727:p.Gly748Trp	Somatic	0	45	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.G748W	ENST00000332142.5	37	c.2242	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498798	0.85069	.	.	ENSG00000184611	ENST00000332142	D	0.97066	-4.23	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.99087	1.0839	10	0.72032	D	0.01	.	19.333	0.94299	0.0:1.0:0.0:0.0	.	748	Q9NS40	KCNH7_HUMAN	W	748	ENSP00000331727:G748W	ENSP00000331727:G748W	G	-	1	0	KCNH7	162965110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.571000	0.86741	0.591000	0.81541	GGG	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.483	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	protein_coding	OTTHUMT00000255093.1	C	NM_033272	-		163256864	-1	no_errors	ENST00000332142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	163256864	C	A	163256864	3	1	214	1	0	0	0	0	1	0	0	0	8039	623	22	3	1376	3	KCNH7	2	163256864	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	42552767	163256864	79942509	13	17474											
HNRNPA3	220988	genome.wustl.edu	37	chr2	178080861	178080861	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacaggcagagtggaaaaaaGagaggatttgcttttgtaac	13	4	0	2	rs199989994		TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:178080861G>T	ENST00000392524.2	+	4	735	c.498G>T	c.(496-498)aaG>aaT	p.K166N	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.K144N|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.K166N			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTGGAAAAAAGAGAGGATTTG	0.318																																																	0								ENSG00000170144						26	27	27					2																	178080861		2199	4256	6455	HNRNPA3	SO:0001583	missense	0			-	HGNC	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.498G>T	2.37:g.178080861G>T	ENSP00000376309:p.Lys166Asn	Somatic	0	31	0		0.591229292315791	392	0.25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K166N	ENST00000392524.2	37	c.498	CCDS2273.1	2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801226	0.50315	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.92495	-3.05;-3.05;-3.05	4.11	-0.176	0.13311	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.48286	U	0.000187	D	0.91798	0.7405	L	0.37630	1.12	0.53688	D	0.999977	D;D	0.89917	1.0;0.998	D;D	0.71414	0.973;0.943	D	0.89221	0.3571	10	0.72032	D	0.01	.	9.4697	0.38835	0.6151:0.0:0.3849:0.0	.	144;166	B4DDB6;P51991	.;ROA3_HUMAN	N	166;144;144;144;166	ENSP00000376309:K166N;ENSP00000408487:K144N;ENSP00000416340:K166N	ENSP00000376309:K166N	K	+	3	2	HNRNPA3	177789107	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	1.290000	0.33319	-0.025000	0.13918	-0.373000	0.07131	AAG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.318	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPA3	protein_coding	OTTHUMT00000255729.3	G	NM_194247	-		178080861	1	no_errors	ENST00000392524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	178080861	G	T	178080861	3	4	214	1	0	0	0	0	1	0	0	0	7262	933	33	3	512	3	HNRNPA3	2	178080861	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	14823997	178080861	65118512	14	17475											
PGAP1	80055	genome.wustl.edu	37	chr2	197707533	197707533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtttacatggatcaggatTaagtttaaaataatacctat	7	4	1	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:197707533T>G	ENST00000354764.4	-	26	2656	c.2542A>C	c.(2542-2544)Aat>Cat	p.N848H		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	848					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GGATCAGGATTAAGTTTAAAA	0.279																																																	0								ENSG00000197121						59	68	65					2																	197707533		2200	4289	6489	PGAP1	SO:0001583	missense	0			-	HGNC		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2542A>C	2.37:g.197707533T>G	ENSP00000346809:p.Asn848His	Somatic	0	41	0		0.591229292315791	35	23.91	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	105	27.08	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP							pfam_PGAP1-like	p.N848H	ENST00000354764.4	37	c.2542	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737798	0.30774	.	.	ENSG00000197121	ENST00000354764	.	.	.	5.35	4.17	0.49024	.	0.447709	0.25361	N	0.031228	T	0.25791	0.0628	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14364	-1.0475	9	0.45353	T	0.12	-5.5324	0.6207	0.00777	0.1797:0.1662:0.1878:0.4663	.	848	Q75T13	PGAP1_HUMAN	H	848	.	ENSP00000346809:N848H	N	-	1	0	PGAP1	197415778	0.995000	0.38212	0.996000	0.52242	0.951000	0.60555	0.279000	0.18771	1.014000	0.39417	0.533000	0.62120	AAT	-	NULL		0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	protein_coding	OTTHUMT00000256103.5	T	NM_024989	-		197707533	-1	no_errors	ENST00000354764	ensembl	human	known	74_37	missense	SNP	0.968	G	G	197707533	T	G	197707533	3	3	214	1	0	0	0	0	1	0	0	0	11779	1754	61	5	234	5	PGAP1	2	197707533	Missense_Mutation	SNP	T	TCGA-SI-A71Q-01A-12D-A33E-09	19626672	197707533	45491840	15	17476											
ZDBF2	57683	genome.wustl.edu	37	chr2	207173469	207173469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataagagctataaattagGtgattttgatgtaagttatg	10	1	0	4			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:207173469G>T	ENST00000374423.3	+	5	4603	c.4217G>T	c.(4216-4218)gGt>gTt	p.G1406V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1406							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TATAAATTAGGTGATTTTGAT	0.348																																																	0								ENSG00000204186						55	53	54					2																	207173469		1828	4083	5911	ZDBF2	SO:0001583	missense	0			-	HGNC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4217G>T	2.37:g.207173469G>T	ENSP00000363545:p.Gly1406Val	Somatic	0	39	0		0.591229292315791	25	19.35	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	115	25.16	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP							pfam_Znf_DBF,smart_Znf_DBF	p.G1406V	ENST00000374423.3	37	c.4217	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947191	0.34377	.	.	ENSG00000204186	ENST00000374423	T	0.40225	1.04	3.76	1.78	0.24846	.	.	.	.	.	T	0.27278	0.0669	L	0.34521	1.04	0.39928	D	0.97425	B	0.21225	0.053	B	0.23574	0.047	T	0.06643	-1.0815	9	0.25751	T	0.34	.	5.3549	0.16055	0.0:0.1753:0.5218:0.3029	.	1406	Q9HCK1	ZDBF2_HUMAN	V	1406	ENSP00000363545:G1406V	ENSP00000363545:G1406V	G	+	2	0	ZDBF2	206881714	0.587000	0.26791	0.956000	0.39512	0.826000	0.46750	0.527000	0.22987	0.468000	0.27243	0.650000	0.86243	GGT	-	NULL		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	G	NM_020923	-		207173469	1	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	SNP	0.975	T	T	207173469	G	T	207173469	3	4	214	1	0	0	0	0	1	0	0	0	17606	1261	44	3	4227	3	ZDBF2	2	207173469	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	9465936	207173469	36025904	16	17477											
TRIP12	9320	genome.wustl.edu	37	chr2	230679988	230679988	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatacaatatatacttaCaatatcaaaattgtgctcca	2	7	1	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr2:230679988C>A	ENST00000283943.5	-	9	1670		c.e9+1		TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000389045.3_Splice_Site	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TATATACTTACAATATCAAAA	0.279																																																	0								ENSG00000153827						30	31	31					2																	230679988		2176	4290	6466	TRIP12	SO:0001630	splice_region_variant	0			-	HGNC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1491+1G>T	2.37:g.230679988C>A		Somatic	0	35	0		0.591229292315791	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	SNP							-	e8+1	ENST00000283943.5	37	c.1491+1	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470200	0.84533	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8049	0.96527	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIP12	230388232	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.364000	0.79526	2.672000	0.90937	0.558000	0.71614	.	-	-		0.279	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	protein_coding	OTTHUMT00000331861.3	C	NM_004238	-	Intron	230679988	-1	no_errors	ENST00000283943	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	230679988	C	A	230679988	5	1	214	1	0	0	0	0	0	0	1	0	16563	492	17	3	4618	3	TRIP12	2	230679988	Splice_Site	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	23506519	230679988	12519385	17	17478											
EXOC1	55763	genome.wustl.edu	37	chr4	56736871	56736871	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagtcaatcatggcatctGaaaaacaagtcaacatcctg	6	11	4	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr4:56736871G>T	ENST00000381295.2	+	6	979	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E211*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E211*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	211					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CATGGCATCTGAAAAACAAGT	0.348																																																	0								ENSG00000090989						82	81	81					4																	56736871		2203	4300	6503	EXOC1	SO:0001587	stop_gained	0			-	HGNC	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.631G>T	4.37:g.56736871G>T	ENSP00000370695:p.Glu211*	Somatic	0	40	0		0.591229292315791	70	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Nonsense_Mutation	SNP							pfam_Exocyst_Exoc1/SEC3	p.E211*	ENST00000381295.2	37	c.631	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.762517	0.98943	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	ENSP00000326514:E211X	E	+	1	0	EXOC1	56431628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	GAA	-	pfam_Exocyst_Exoc1/SEC3		0.348	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	protein_coding	OTTHUMT00000361799.1	G	NM_018261	-		56736871	1	no_errors	ENST00000346134	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	56736871	G	T	56736871	4	4	214	1	0	0	0	0	0	1	0	0	5303	1291	45	3	649	3	EXOC1	4	56736871	Nonsense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		56736871	134417405	18	17479											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5303702	5303702	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtgctcacacacctgtggGaaggggtggaggaagcgggc	18	9	1	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr5:5303702G>T	ENST00000274181.7	+	20	3147	c.3009G>T	c.(3007-3009)ggG>ggT	p.G1003G		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1003	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						ACACCTGTGGGAAGGGGTGGA	0.637																																																	0								ENSG00000145536						53	62	59					5																	5303702		2161	4262	6423	ADAMTS16	SO:0001819	synonymous_variant	0			-	HGNC	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.3009G>T	5.37:g.5303702G>T		Somatic	0	43	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	C6G490|Q8IVE2	Silent	SNP							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G1003	ENST00000274181.7	37	c.3009	CCDS43299.1	5																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.637	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	protein_coding	OTTHUMT00000365657.1	G	NM_139056	-		5303702	1	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	SNP	0.998	T	T	5303702	G	T	5303702	2	4	214	1	0	0	0	0	0	0	0	1	261	1161	41	3		3	ADAMTS16	5	5303702	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		5303702	175611558	19	17480											
ADCY2	108	genome.wustl.edu	37	chr5	7396579	7396579	+	Frame_Shift_Del	DEL	C	C	-													gctgctcatcgtcatgggctCctgcctcgccctgctcgccg							TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr5:7396579delC	ENST00000338316.4	+	1	259	c.170delC	c.(169-171)tccfs	p.S57fs		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	57					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTCATGGGCTCCTGCCTCGCC	0.706																																																	0								ENSG00000078295						51	43	46					5																	7396579		2203	4296	6499	ADCY2	SO:0001589	frameshift_variant	0				HGNC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.170delC	5.37:g.7396579delC	ENSP00000342952:p.Ser57fs	Somatic	0	15	0		0.591229292315791	22	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Frame_Shift_Del	DEL							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.C58fs	ENST00000338316.4	37	c.170	CCDS3872.2	5																																																																																			-	NULL		0.706	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	C	NM_020546			7396579	1	no_errors	ENST00000338316	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	7396579	C	-	7396579	7	5	214	1	0	1	0	1	0	0	0	0	294	855	30	0	172	0	ADCY2	5	7396579	Frame_Shift_Del	DEL	C	TCGA-SI-A71Q-01A-12D-A33E-09	2092877	7396579	173518681	20	17481											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129072798	129072798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggagatcagtggccaGtgtactgccgagtgatacgt	15	9	1	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr5:129072798G>T	ENST00000274487.4	+	23	3656	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1171	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCAGTGGCCAGTGTACTGCCG	0.463																																																	0								ENSG00000145808						133	123	127					5																	129072798		2203	4300	6503	ADAMTS19	SO:0001583	missense	0			-	HGNC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3511G>T	5.37:g.129072798G>T	ENSP00000274487:p.Val1171Leu	Somatic	0	21	0		0.591229292315791	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	6	78.57		Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1171L	ENST00000274487.4	37	c.3511	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623779	0.66901	.	.	ENSG00000145808	ENST00000274487	T	0.64085	-0.08	4.12	4.12	0.48240	PLAC (2);	0.000000	0.45126	D	0.000394	T	0.66436	0.2789	N	0.19112	0.55	0.53688	D	0.99997	D	0.76494	0.999	D	0.85130	0.997	T	0.65228	-0.6219	9	.	.	.	.	17.6813	0.88243	0.0:0.0:1.0:0.0	.	1171	Q8TE59	ATS19_HUMAN	L	1171	ENSP00000274487:V1171L	.	V	+	1	0	ADAMTS19	129100697	1.000000	0.71417	0.913000	0.36048	0.603000	0.37013	8.517000	0.90555	2.599000	0.87857	0.650000	0.86243	GTG	-	pfam_PLAC,pfscan_PLAC		0.463	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	protein_coding	OTTHUMT00000250979.2	G	NM_133638	-		129072798	1	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	SNP	0.999	T	T	129072798	G	T	129072798	3	4	214	1	0	0	0	0	1	0	0	0	264	1029	36	3	3601	3	ADAMTS19	5	129072798	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	121676219	129072798	51842462	21	17482											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagagtggcccaaatatttCgtttagattcttacacagga	8	8	1	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	293	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.R293C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000204956						61	62	62					5																	140711128		2203	4300	6503	PCDHGA1	SO:0001583	missense	0			-	HGNC	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.877C>T	5.37:g.140711128C>T	ENSP00000431083:p.Arg293Cys	Somatic	0	36	0		0.591229292315791	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.50	Q2M273|Q9Y5D6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R293C	ENST00000517417.1	37	c.877	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922233	0.17982	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.55930	0.49;0.49	4.19	4.19	0.49359	Cadherin (4);Cadherin-like (1);	0.151865	0.30419	N	0.009671	T	0.49081	0.1536	M	0.69523	2.12	0.25748	N	0.985084	B;B	0.13145	0.001;0.007	B;B	0.13407	0.002;0.009	T	0.44498	-0.9324	10	0.46703	T	0.11	.	8.8528	0.35210	0.1661:0.6725:0.1614:0.0	.	293;293	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	293	ENSP00000431083:R293C;ENSP00000367345:R293C	ENSP00000367345:R293C	R	+	1	0	PCDHGA1	140691312	0.000000	0.05858	0.996000	0.52242	0.912000	0.54170	-0.755000	0.04782	2.345000	0.79718	0.650000	0.86243	CGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.428	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	C	NM_018912	rs145926133		140711128	1	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	SNP	0.609	T	T	140711128	C	T	140711128	3	4	214	1	0	0	0	0	1	0	0	0	11552	884	31	1	879	1	PCDHGA1	5	140711128	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	11638330	140711128	40204132	22	17483											
OR11A1	26531	genome.wustl.edu	37	chr6	29395185	29395185	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatttttggcatcacTgcggaggtgtagagaatatc	11	8	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr6:29395185T>A	ENST00000377149.1	-	5	706	c.234A>T	c.(232-234)gcA>gcT	p.A78A	OR11A1_ENST00000377148.1_Silent_p.A78A|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.A78A			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TTGGCATCACTGCGGAGGTGT	0.488																																																	0								ENSG00000204694						71	65	67					6																	29395185		1510	2709	4219	OR11A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.234A>T	6.37:g.29395185T>A		Somatic	0	31	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.A78	ENST00000377149.1	37	c.234	CCDS34363.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	protein_coding	OTTHUMT00000193778.1	T		-		29395185	-1	no_errors	ENST00000377147	ensembl	human	known	74_37	silent	SNP	0.044	A	A	29395185	T	A	29395185	2	1	214	1	0	0	0	0	0	0	0	1	10926	1567	55	5		5	OR11A1	6	29395185	Silent	SNP	T	TCGA-SI-A71Q-01A-12D-A33E-09		29395185	141719882	23	17484											
VARS	7407	genome.wustl.edu	37	chr6	31750593	31750593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaacttcatagtcattttGgtcatgtgcgggggtgatct	11	9	4	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr6:31750593G>T	ENST00000375663.3	-	15	2232	c.1792C>A	c.(1792-1794)Caa>Aaa	p.Q598K	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	598					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)	TAGTCATTTTGGTCATGTGCG	0.582																																																	0								ENSG00000204394						54	52	53					6																	31750593		1509	2708	4217	VARS	SO:0001583	missense	0			-	HGNC	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.1792C>A	6.37:g.31750593G>T	ENSP00000364815:p.Gln598Lys	Somatic	0	36	0		0.591229292315791	116	0.85	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.Q598K	ENST00000375663.3	37	c.1792	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530471	0.64860	.	.	ENSG00000204394	ENST00000375663	T	0.34859	1.34	5.09	4.22	0.49857	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.113134	0.64402	D	0.000009	T	0.09512	0.0234	N	0.20845	0.615	0.80722	D	1	P	0.38729	0.644	B	0.41135	0.348	T	0.05484	-1.0882	10	0.02654	T	1	-15.5249	11.0924	0.48123	0.0914:0.0:0.9085:0.0	.	598	P26640	SYVC_HUMAN	K	598	ENSP00000364815:Q598K	ENSP00000364815:Q598K	Q	-	1	0	VARS	31858572	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.966000	0.76073	1.135000	0.42183	0.563000	0.77884	CAA	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase		0.582	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	protein_coding	OTTHUMT00000076619.2	G	NM_006295	-		31750593	-1	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31750593	G	T	31750593	3	4	214	1	0	0	0	0	1	0	0	0	17130	1357	47	3	2066	3	VARS	6	31750593	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	2355408	31750593	139364474	24	17485											
DAXX	1616	genome.wustl.edu	37	chr6	33289082	33289082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgtgggagggttattcCcagagggctcattggaggtg	19	5	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr6:33289082C>A	ENST00000374542.5	-	3	674	c.470G>T	c.(469-471)gGg>gTg	p.G157V	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.G82V|DAXX_ENST00000266000.6_Missense_Mutation_p.G157V	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	157	Necessary for interaction with USP7 and ATRX.				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)			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						AGGGTTATTCCCAGAGGGCTC	0.562			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0								ENSG00000204209						82	85	84					6																	33289082		2203	4300	6503	DAXX	SO:0001583	missense	0			-	HGNC	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.470G>T	6.37:g.33289082C>A	ENSP00000363668:p.Gly157Val	Somatic	0	52	0		0.591229292315791	73	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP							pfam_Daxx	p.G157V	ENST00000374542.5	37	c.470	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046186	0.36085	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083;ENST00000446403	.	.	.	5.25	1.51	0.23008	.	0.530450	0.21001	N	0.081876	T	0.53481	0.1799	L	0.58669	1.825	0.46131	D	0.998887	P;D;D	0.64830	0.946;0.994;0.994	P;D;D	0.67900	0.745;0.954;0.954	T	0.52275	-0.8597	9	0.40728	T	0.16	-13.2289	7.1098	0.25384	0.0:0.6371:0.0:0.3629	.	169;157;157	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	V	157;157;82;157	.	ENSP00000266000:G157V	G	-	2	0	DAXX	33397060	0.086000	0.21541	0.187000	0.23214	0.977000	0.68977	0.516000	0.22817	0.091000	0.17302	-0.163000	0.13421	GGG	-	pfam_Daxx		0.562	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	protein_coding	OTTHUMT00000076403.1	C		-		33289082	-1	no_errors	ENST00000266000	ensembl	human	known	74_37	missense	SNP	0.135	A	A	33289082	C	A	33289082	3	1	214	1	0	0	0	0	1	0	0	0	4245	623	22	3	1776	3	DAXX	6	33289082	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	1538489	33289082	137825985	25	17486											
CD2AP	23607	genome.wustl.edu	37	chr6	47573998	47573998	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaaggttgccgggccgtttCaatggtggacattctgtgag	15	7	2	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr6:47573998C>T	ENST00000359314.5	+	14	1971	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	505					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CGGGCCGTTTCAATGGTGGAC	0.398																																																	0								ENSG00000198087						116	107	110					6																	47573998		2203	4300	6503	CD2AP	SO:0001819	synonymous_variant	0			-	HGNC	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1515C>T	6.37:g.47573998C>T		Somatic	0	48	0		0.591229292315791	24	4	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	92	22.03	A6NL34|Q5VYA3|Q9UG97	Silent	SNP							pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.F505	ENST00000359314.5	37	c.1515	CCDS34472.1	6																																																																																			-	NULL		0.398	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	protein_coding	OTTHUMT00000040817.2	C		-		47573998	1	no_errors	ENST00000359314	ensembl	human	known	74_37	silent	SNP	1.000	T	T	47573998	C	T	47573998	2	4	214	1	0	0	0	0	0	0	0	1	2996	825	29	2		2	CD2AP	6	47573998	Silent	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	14284916	47573998	123541069	26	17487											
DPPA5	340168	genome.wustl.edu	37	chr6	74063926	74063926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcacccacggcgggatatgtCtacgtgccgggagagttccc	13	13	2	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr6:74063926C>G	ENST00000370370.3	-	1	92	c.23G>C	c.(22-24)aGa>aCa	p.R8T		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	8					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						CGGGATATGTCTACGTGCCGG	0.577																																																	0								ENSG00000203909						64	57	59					6																	74063926		2203	4300	6503	DPPA5	SO:0001583	missense	0			-	HGNC		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.23G>C	6.37:g.74063926C>G	ENSP00000359396:p.Arg8Thr	Somatic	0	86	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	59	42.16	B2RPQ7	Missense_Mutation	SNP							NULL	p.R8T	ENST00000370370.3	37	c.23	CCDS34483.1	6	.	.	.	.	.	.	.	.	.	.	C	6.202	0.405474	0.11754	.	.	ENSG00000203909	ENST00000370370	T	0.29397	1.57	3.6	-0.837	0.10766	.	0.540328	0.16982	N	0.191662	T	0.05547	0.0146	N	0.24115	0.695	0.09310	N	1	B	0.18310	0.027	B	0.16289	0.015	T	0.39396	-0.9616	10	0.26408	T	0.33	.	6.6106	0.22749	0.0:0.465:0.0:0.535	.	8	A6NC42	DPPA5_HUMAN	T	8	ENSP00000359396:R8T	ENSP00000359396:R8T	R	-	2	0	DPPA5	74120647	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.398000	0.20899	-0.117000	0.11872	-0.350000	0.07774	AGA	-	NULL		0.577	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA5	protein_coding	OTTHUMT00000041203.3	C	NM_001025290	-		74063926	-1	no_errors	ENST00000370370	ensembl	human	known	74_37	missense	SNP	0.000	G	G	74063926	C	G	74063926	3	3	214	1	0	0	0	0	1	0	0	0	4739	913	32	4	339	4	DPPA5	6	74063926	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	26489928	74063926	97051141	27	17488											
HACE1	57531	genome.wustl.edu	37	chr6	105219148	105219148	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctccaaacacatcagtctCaacagaaaaagttagttcta	5	10	3	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr6:105219148C>G	ENST00000262903.4	-	19	2407	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	711	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ACATCAGTCTCAACAGAAAAA	0.373																																																	0								ENSG00000085382						107	110	109					6																	105219148		2203	4300	6503	HACE1	SO:0001583	missense	0			-	HGNC	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2131G>C	6.37:g.105219148C>G	ENSP00000262903:p.Glu711Gln	Somatic	0	56	0		0.591229292315791	42	10.64	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	100	20.47	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP							pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.E711Q	ENST00000262903.4	37	c.2131	CCDS5050.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.632366|4.632366	0.87660|0.87660	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903|ENST00000518503;ENST00000518402	T|.	0.58358|.	0.34|.	5.62|5.62	5.62|5.62	0.85841|0.85841	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.65554|.	0.2702|.	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.87578|.	0.977;0.998;0.998|.	T|.	0.61676|.	-0.7014|.	10|.	0.87932|.	D|.	0|.	.|.	19.6632|19.6632	0.95882|0.95882	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	200;711;364|.	B4DFM6;Q8IYU2;Q8IYU2-3|.	.;HACE1_HUMAN;.|.	Q|S	711|193;145	ENSP00000262903:E711Q|.	ENSP00000262903:E711Q|.	E|X	-|-	1|2	0|2	HACE1|HACE1	105325841|105325841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.466000|7.466000	0.80914|0.80914	2.625000|2.625000	0.88918|0.88918	0.655000|0.655000	0.94253|0.94253	GAG|TGA	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.373	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	protein_coding	OTTHUMT00000041643.2	C	XM_045095	-		105219148	-1	no_errors	ENST00000262903	ensembl	human	known	74_37	missense	SNP	1.000	G	G	105219148	C	G	105219148	3	3	214	1	0	0	0	0	1	0	0	0	6942	835	29	4	622	4	HACE1	6	105219148	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	31155222	105219148	65895919	28	17489											
CHRM2	1129	genome.wustl.edu	37	chr7	136699910	136699910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtgtgtgacctttggCtagccctggactatgtggtc	14	9	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr7:136699910C>A	ENST00000445907.2	+	3	826	c.298C>A	c.(298-300)Cta>Ata	p.L100I	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L100I|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L100I|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L100I|CHRM2_ENST00000401861.1_Missense_Mutation_p.L100I|CHRM2_ENST00000453373.1_Missense_Mutation_p.L100I|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGACCTTTGGCTAGCCCTGGA	0.478																																																	0								ENSG00000181072						186	176	179					7																	136699910		2203	4300	6503	CHRM2	SO:0001583	missense	0			-	HGNC		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.298C>A	7.37:g.136699910C>A	ENSP00000399745:p.Leu100Ile	Somatic	0	27	0		0.591229292315791	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q4VBK6|Q9P1X9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.L100I	ENST00000445907.2	37	c.298	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807076	0.50421	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.61	0.728	0.18260	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.42040	0.1185	L	0.46947	1.48	0.54753	D	0.999986	D	0.76494	0.999	D	0.85130	0.997	T	0.10989	-1.0606	10	0.37606	T	0.19	-12.6405	9.5222	0.39143	0.0:0.5962:0.0:0.4038	.	100	P08172	ACM2_HUMAN	I	100	ENSP00000399745:L100I;ENSP00000415386:L100I;ENSP00000319984:L100I;ENSP00000380733:L100I;ENSP00000384937:L100I;ENSP00000384401:L100I	ENSP00000319984:L100I	L	+	1	2	CHRM2	136350450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.115000	0.31209	0.335000	0.23614	0.650000	0.86243	CTA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	C		-		136699910	1	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	SNP	0.997	A	A	136699910	C	A	136699910	3	1	214	1	0	0	0	0	1	0	0	0	3379	796	28	3	300	3	CHRM2	7	136699910	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09		136699910	22438753	29	17490											
DGKI	9162	genome.wustl.edu	37	chr7	137080395	137080395	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatccaccagaagctggcaCacagcccggttccgctggca	11	16	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr7:137080395C>A	ENST00000288490.5	-	33	3030	c.3030G>T	c.(3028-3030)gtG>gtT	p.V1010V	DGKI_ENST00000446122.1_Silent_p.V992V|DGKI_ENST00000424189.2_Silent_p.V1023V|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Silent_p.V679V	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1010					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAAGCTGGCACACAGCCCGGT	0.562																																																	0								ENSG00000157680						79	68	72					7																	137080395		2203	4300	6503	DGKI	SO:0001819	synonymous_variant	0			-	HGNC	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3030G>T	7.37:g.137080395C>A		Somatic	0	60	0		0.591229292315791	8	33.33	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	73	28.43	A4D1Q9|Q9NZ49	Silent	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V1010	ENST00000288490.5	37	c.3030	CCDS5845.1	7																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.562	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	protein_coding	OTTHUMT00000341286.3	C	NM_004717	-		137080395	-1	no_errors	ENST00000288490	ensembl	human	known	74_37	silent	SNP	1.000	A	A	137080395	C	A	137080395	2	1	214	1	0	0	0	0	0	0	0	1	4473	465	17	3		3	DGKI	7	137080395	Silent	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	380485	137080395	22058268	30	17491											
RP1L1	94137	genome.wustl.edu	37	chr8	10470651	10470651	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctccacggacaggctGccgtcctcattcatgcggac	9	15	4	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr8:10470651G>T	ENST00000382483.3	-	4	1180	c.957C>A	c.(955-957)ggC>ggA	p.G319G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	319					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)				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)		CGGACAGGCTGCCGTCCTCAT	0.662																																																	0								ENSG00000183638						87	96	93					8																	10470651		2136	4243	6379	RP1L1	SO:0001819	synonymous_variant	0			-	HGNC	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.957C>A	8.37:g.10470651G>T		Somatic	0	94	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G319	ENST00000382483.3	37	c.957	CCDS43708.1	8																																																																																			-	NULL		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G		-		10470651	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	SNP	1.000	T	T	10470651	G	T	10470651	2	4	214	1	0	0	0	0	0	0	0	1	13541	1306	46	3		3	RP1L1	8	10470651	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		10470651	135893371	31	17492											
KIAA1967	57805	genome.wustl.edu	37	chr8	22463645	22463645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctcctggtttgctcactCctcctgtggccacagaactg	8	16	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr8:22463645C>A	ENST00000308511.4	+	3	355	c.106C>A	c.(106-108)Cct>Act	p.P36T	CCAR2_ENST00000389279.3_Missense_Mutation_p.P36T|CCAR2_ENST00000520861.1_5'Flank|CCAR2_ENST00000521301.1_Missense_Mutation_p.P36T			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	36					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TTTGCTCACTCCTCCTGTGGC	0.552																																																	0								ENSG00000158941						244	247	246					8																	22463645		2203	4300	6503	CCAR2	SO:0001583	missense	0			-	HGNC	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.106C>A	8.37:g.22463645C>A	ENSP00000310670:p.Pro36Thr	Somatic	0	105	0		0.591229292315791	58	1.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	12.90	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP							superfamily_NA-bd_OB-fold	p.P36T	ENST00000308511.4	37	c.106	CCDS34863.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444590|3.444590	0.63178|0.63178	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000521301;ENST00000389279;ENST00000521837;ENST00000523349|ENST00000523801	T;T|.	0.35421|.	1.31;1.31|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.56097|.	D|.	0.000024|.	T|T	0.40791|0.40791	0.1131|0.1131	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.25293|0.25293	-1.0136|-1.0136	10|5	0.09338|.	T|.	0.73|.	-15.9416|-15.9416	16.9036|16.9036	0.86119|0.86119	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36|.	Q8N163|.	K1967_HUMAN|.	T|Y	36|43	ENSP00000310670:P36T;ENSP00000373930:P36T|.	ENSP00000310670:P36T|.	P|S	+|+	1|2	0|0	KIAA1967|KIAA1967	22519590|22519590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.602000|2.602000	0.46257|0.46257	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	NULL		0.552	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR2	protein_coding	OTTHUMT00000375865.1	C	NM_021174	-		22463645	1	no_errors	ENST00000308511	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22463645	C	A	22463645	3	1	214	1	0	0	0	0	1	0	0	0	8267	855	30	3	112	3	KIAA1967	8	22463645	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	11992994	22463645	123900377	32	17493											
RHOBTB2	23221	genome.wustl.edu	37	chr8	22861951	22861951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctcaggtcccgtttaatgGattctgacatggattatgaa	9	9	2	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr8:22861951G>T	ENST00000251822.6	+	2	541	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D24Y|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D9Y|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	2	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGTTTAATGGATTCTGACAT	0.617											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000008853						103	78	87					8																	22861951		2203	4300	6503	RHOBTB2	SO:0001583	missense	0			-	HGNC	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.4G>T	8.37:g.22861951G>T	ENSP00000251822:p.Asp2Tyr	Somatic	0	70	0	759	0.591229292315791	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.D2Y	ENST00000251822.6	37	c.4	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594623	0.86953	.	.	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.30182	2.83;1.54;2.65;2.39	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	N	0.14661	0.345	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.74023	0.982;0.982;0.894	T	0.46005	-0.9222	10	0.87932	D	0	.	16.4336	0.83861	0.0:0.0:1.0:0.0	.	9;2;24	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	Y	24;24;9;2	ENSP00000427926:D24Y;ENSP00000430785:D24Y;ENSP00000429141:D9Y;ENSP00000251822:D2Y	ENSP00000251822:D2Y	D	+	1	0	RHOBTB2	22917896	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.644000	0.98468	2.456000	0.83038	0.561000	0.74099	GAT	-	NULL		0.617	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	protein_coding	OTTHUMT00000215101.2	G		-		22861951	1	no_errors	ENST00000251822	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22861951	G	T	22861951	3	4	214	1	0	0	0	0	1	0	0	0	13342	1174	41	3	91	3	RHOBTB2	8	22861951	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	398306	22861951	123502071	33	17494											
TNFRSF10B	8795	genome.wustl.edu	37	chr8	22880256	22880256	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaacaagtggtcctcaatCttctgcttggcaagtctctc	7	13	5	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr8:22880256C>A	ENST00000276431.4	-	9	1535	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.K237N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.K388N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	417	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGTCCTCAATCTTCTGCTTGG	0.502																																					GBM(94;1064 1342 1839 21060 42553)												0								ENSG00000120889						122	111	115					8																	22880256		2203	4300	6503	TNFRSF10B	SO:0001583	missense	0			-	HGNC	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1251G>T	8.37:g.22880256C>A	ENSP00000276431:p.Lys417Asn	Somatic	0	42	0		0.591229292315791	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP							pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.K417N	ENST00000276431.4	37	c.1251	CCDS6035.1	8	.	.	.	.	.	.	.	.	.	.	c	17.41	3.382281	0.61845	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	D;D;D	0.86164	-2.08;-2.08;-2.08	4.96	-5.42	0.02640	Death (3);DEATH-like (2);	4.401270	0.01173	U	0.006902	D	0.85470	0.5704	L	0.38175	1.15	0.09310	N	1	P;B;B;D;P	0.56035	0.901;0.411;0.411;0.974;0.543	P;B;B;P;B	0.56343	0.71;0.321;0.321;0.796;0.42	T	0.75637	-0.3249	10	0.22109	T	0.4	.	7.2517	0.26152	0.0:0.2847:0.5028:0.2126	.	237;417;417;388;182	B7Z588;B5BU36;O14763;O14763-2;Q7Z2I8	.;.;TR10B_HUMAN;.;.	N	417;388;237	ENSP00000276431:K417N;ENSP00000317859:K388N;ENSP00000443386:K237N	ENSP00000276431:K417N	K	-	3	2	TNFRSF10B	22936201	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.863000	0.01651	-0.545000	0.06224	-0.910000	0.02820	AAG	-	pirsf_TNFR_10,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain		0.502	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF10B	protein_coding	OTTHUMT00000215099.2	C	NM_147187	-		22880256	-1	no_errors	ENST00000276431	ensembl	human	known	74_37	missense	SNP	0.000	A	A	22880256	C	A	22880256	3	1	214	1	0	0	0	0	1	0	0	0	16288	912	32	3	75	3	TNFRSF10B	8	22880256	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	18305	22880256	123483766	34	17495											
FGFR1	2260	genome.wustl.edu	37	chr8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcaggcccccagcagGttgatgatattcttatgctt	11	10	1	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	central_nervous_system(4)						ENSG00000077782						87	95	92					8																	38274849		2154	4289	6443	FGFR1	SO:0001583	missense	0			-	HGNC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1638C>A	8.37:g.38274849G>T	ENSP00000400162:p.Asn546Lys	Somatic	0	26	0		0.591229292315791	1288	26.22	458	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.N577K	ENST00000447712.2	37	c.1731	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406498	0.83230	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.57	3.76	0.43208	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	0.87577	0.6212	N	0.04387	-0.21	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	D	0.88572	0.3130	10	0.87932	D	0	.	9.3132	0.37919	0.2169:0.0:0.7831:0.0	.	455;455;546;536;544	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	544;577;546;546;546;544;544;457;536;455;457;544	ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K	ENSP00000311337:N546K	N	-	3	2	FGFR1	38394006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.491000	0.48482	0.655000	0.94253	AAC	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	protein_coding		G		-		38274849	-1	no_errors	ENST00000425967	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38274849	G	T	38274849	3	4	214	1	0	0	0	0	1	0	0	0	5865	1252	44	3	858	3	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	15394593	38274849	108089173	35	17496											
ATAD2	29028	genome.wustl.edu	37	chr8	124382158	124382159	+	In_Frame_Ins	INS	-	-	TCA													cttcttcatcttcatcatctINStcatcatcatcatcatcatc					rs373904648|rs374184884|rs145137934|rs112640031|rs371096883|rs373069275|rs113064839	byFrequency	TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr8:124382158_124382159insTCA	ENST00000287394.5	-	7	940_941	c.833_834insTGA	c.(832-834)gaa>gaTGAa	p.277_278insD	ATAD2_ENST00000521903.1_De_novo_Start_InFrame|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	277	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcttcatcatcatc	0.376																																																	0								ENSG00000156802																																			ATAD2	SO:0001652	inframe_insertion	0				HGNC	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.831_833dupTGA	8.37:g.124382165_124382167dupTCA	ENSP00000287394:p.Asp279_Asp280dup	Somatic	0	16	0		0.591229292315791	118	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	49	26.87	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	In_Frame_Ins	INS							pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.278in_frame_insD	ENST00000287394.5	37	c.834_833	CCDS6343.1	8																																																																																			-	NULL		0.376	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	protein_coding	OTTHUMT00000381766.2	-	NM_014109			124382159	-1	no_errors	ENST00000287394	ensembl	human	known	74_37	in_frame_ins	INS	0.866:0.899	TCA	TCA	124382159	-	TCA	124382158	7	5	214	1	0	1	1	0	0	0	0	0	1071	1606	56	0	3426	0	ATAD2	8	124382158	In_Frame_Ins	INS	-	TCGA-SI-A71Q-01A-12D-A33E-09	86107309	124382158	21981864	36	17497											
CBWD1	55871	genome.wustl.edu	37	chr9	122049	122049	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagctcatggacaccctgGacaatcacttgttgtgattt	9	9	2	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr9:122049G>A	ENST00000356521.4	-	14	1081	c.993C>T	c.(991-993)gtC>gtT	p.V331V	CBWD1_ENST00000475411.1_5'UTR|CBWD1_ENST00000314367.10_Silent_p.V295V|CBWD1_ENST00000382447.4_Silent_p.V312V|CBWD1_ENST00000377400.4_Silent_p.V283V	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	331	CobW C-terminal.						ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGACACCCTGGACAATCACTT	0.433																																																	0								ENSG00000172785						1	1	1					9																	122049		584	1229	1813	CBWD1	SO:0001819	synonymous_variant	0			-	HGNC	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.993C>T	9.37:g.122049G>A		Somatic	0	181	0		0.591229292315791	42	31.15	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	108	5	95.58	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP							pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C	p.V331	ENST00000356521.4	37	c.993	CCDS6438.1	9																																																																																			-	pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C		0.433	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	protein_coding	OTTHUMT00000051463.1	G	NM_018491	-		122049	-1	no_errors	ENST00000356521	ensembl	human	known	74_37	silent	SNP	1.000	A	A	122049	G	A	122049	2	1	214	1	0	0	0	0	0	0	0	1	2714	1161	41	2		2	CBWD1	9	122049	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		122049	141091382	37	17498											
DENND4C	55667	genome.wustl.edu	37	chr9	19371794	19371794	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttcttatcattagtgtctCtaggaagagagaatattgat	8	5	4	3			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr9:19371794C>A	ENST00000380432.2	+	27	4894	c.4861C>A	c.(4861-4863)Cta>Ata	p.L1621I	RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000602925.1_Missense_Mutation_p.L1857I|DENND4C_ENST00000434457.2_Missense_Mutation_p.L1906I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1621					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATTAGTGTCTCTAGGAAGAGA	0.264																																																	0								ENSG00000137145						56	63	61					9																	19371794		2193	4273	6466	DENND4C	SO:0001583	missense	0			-	HGNC	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4861C>A	9.37:g.19371794C>A	ENSP00000369797:p.Leu1621Ile	Somatic	0	52	0		0.591229292315791	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP							pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L1857I	ENST00000380432.2	37	c.5569		9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276081	0.80580	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432;ENST00000361024	T;T	0.34275	1.38;1.37	5.37	5.37	0.77165	.	0.144445	0.45126	D	0.000395	T	0.57242	0.2040	L	0.53561	1.675	0.47153	D	0.999332	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	T	0.52873	-0.8517	9	.	.	.	-16.902	19.0971	0.93257	0.0:1.0:0.0:0.0	.	951;1621	B7Z660;Q5VZ89	.;DEN4C_HUMAN	I	1621;1094;951;1094;618	ENSP00000305795:L1094I;ENSP00000443804:L951I	.	L	+	1	2	DENND4C	19361794	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.012000	0.57131	2.494000	0.84150	0.655000	0.94253	CTA	-	NULL		0.264	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	protein_coding		C	NM_017925	-		19371794	1	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	SNP	1.000	A	A	19371794	C	A	19371794	3	1	214	1	0	0	0	0	1	0	0	0	4437	912	32	3	4967	3	DENND4C	9	19371794	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	19249745	19371794	121841637	38	17499											
CDKN2A	1029	genome.wustl.edu	37	chr9	21968231	21968288	+	Splice_Site	DEL	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	-													gagcctctctggttctttcaAtcggggatgtctgcagaggg							TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr9:21968231_21968288delATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	ENST00000304494.5	-	3	728_738	c.458_468delCTTTGACCTCAGGTTTCTAACGCCTGTTTTCTTTCTGCCCTCTGCAGACATCCCCGAT	c.(457-468)gctttgacctca>g	p.ALTS153fs	CDKN2A_ENST00000498628.2_Splice_Site_p.ALTS102fs|CDKN2A_ENST00000579122.1_Splice_Site_p.RFDLR128fs|CDKN2A_ENST00000498124.1_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000578845.2_Splice_Site_p.ALTS102fs|CDKN2A_ENST00000494262.1_Splice_Site_p.ALTS102fs|CDKN2A_ENST00000361570.3_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	153					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTTCTTTCAATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAGATGTGTGGCA	0.543		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1329	Whole gene deletion(1316)|Unknown(13)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(163)|lung(141)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(51)|oesophagus(48)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)						ENSG00000147889																																			CDKN2A	SO:0001630	splice_region_variant	0				HGNC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.458-1CTTTGACCTCAGGTTTCTAACGCCTGTTTTCTTTCTGCCCTCTGCAGACATCCCCGAT>-	9.37:g.21968231_21968288delATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG		Somatic					0.591229292315791	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL							superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.D153fs	ENST00000304494.5	37	c.468_458	CCDS6510.1	9																																																																																			-	NULL		0.543	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	protein_coding	OTTHUMT00000051915.1	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	NM_000077		Frame_Shift_Del	21968288	-1	no_errors	ENST00000304494	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.014	-	-	21968288	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	-	21968231	8	5	214	1	0	1	0	1	0	0	1	0	3163	98	4	0	6	0	CDKN2A	9	21968231	Splice_Site	DEL	ATCGGGGATGTCTGCAGAGGGCAGAAAGAAAACAGGCGTTAGAAACCTGAGGTCAAAG	TCGA-SI-A71Q-01A-12D-A33E-09	2596437	21968231	119245200	39	17500											
CD72	971	genome.wustl.edu	37	chr9	35616663	35616663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcaggccgagcaggaGgtatcgcaggcaggttgtgc	19	8	0	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr9:35616663G>T	ENST00000396757.1	-	5	450	c.286C>A	c.(286-288)Ctc>Atc	p.L96I	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.L96I|CD72_ENST00000259633.4_Missense_Mutation_p.L96I			P21854	CD72_HUMAN	CD72 molecule	96					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGAGCAGGAGGTATCGCAGG	0.612																																																	0								ENSG00000137101						104	78	87					9																	35616663		2203	4300	6503	CD72	SO:0001583	missense	0			-	HGNC		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.286C>A	9.37:g.35616663G>T	ENSP00000379980:p.Leu96Ile	Somatic	0	69	0		0.591229292315791	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L96I	ENST00000396757.1	37	c.286	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503250	0.12822	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633;ENST00000378431	T;T;T	0.62639	1.16;1.16;0.01	4.58	-2.76	0.05896	.	0.892392	0.09461	N	0.798965	T	0.38612	0.1047	L	0.35414	1.06	0.09310	N	1	B;B;B	0.17465	0.006;0.022;0.022	B;B;B	0.13407	0.008;0.009;0.009	T	0.26503	-1.0101	10	0.08599	T	0.76	-0.3628	2.2078	0.03940	0.181:0.3259:0.34:0.1531	.	96;96;96	Q5T4Q8;Q5TLG3;P21854	.;.;CD72_HUMAN	I	96	ENSP00000379980:L96I;ENSP00000259633:L96I;ENSP00000367688:L96I	ENSP00000259633:L96I	L	-	1	0	CD72	35606663	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.570000	0.05895	-0.469000	0.06911	-1.134000	0.01955	CTC	-	NULL		0.612	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	protein_coding	OTTHUMT00000052336.1	G	NM_001782	-		35616663	-1	no_errors	ENST00000259633	ensembl	human	known	74_37	missense	SNP	0.000	T	T	35616663	G	T	35616663	3	4	214	1	0	0	0	0	1	0	0	0	3036	1000	35	3	813	3	CD72	9	35616663	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	13648432	35616663	105596768	40	17501											
MURC	347273	genome.wustl.edu	37	chr9	103340465	103340465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaatgctgataaaatcCaccagaatcgcctgtcgagt	7	11	1	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr9:103340465C>A	ENST00000307584.5	+	1	105	c.40C>A	c.(40-42)Cac>Aac	p.H14N	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	14					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATAAAATCCACCAGAATCG	0.433																																																	0								ENSG00000170681						106	98	101					9																	103340465		2203	4300	6503	MURC	SO:0001583	missense	0			-	HGNC	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.40C>A	9.37:g.103340465C>A	ENSP00000418668:p.His14Asn	Somatic	0	29	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B1PRL3|B4DT88	Missense_Mutation	SNP							NULL	p.H14N	ENST00000307584.5	37	c.40	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	C	8.984	0.975984	0.18736	.	.	ENSG00000170681	ENST00000307584	T	0.64438	-0.1	5.39	4.5	0.54988	.	0.496290	0.20888	N	0.083871	T	0.38161	0.1030	N	0.19112	0.55	0.29341	N	0.865995	B	0.16396	0.017	B	0.12156	0.007	T	0.32798	-0.9893	10	0.02654	T	1	-6.9808	6.791	0.23699	0.1752:0.7359:0.0:0.0889	.	14	Q5BKX8	MURC_HUMAN	N	14	ENSP00000418668:H14N	ENSP00000418668:H14N	H	+	1	0	MURC	102380286	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.229000	0.51278	1.282000	0.44496	0.655000	0.94253	CAC	-	NULL		0.433	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	protein_coding	OTTHUMT00000053419.2	C	NM_001018116	-		103340465	1	no_errors	ENST00000307584	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103340465	C	A	103340465	3	1	214	1	0	0	0	0	1	0	0	0	9989	594	21	3	42	3	MURC	9	103340465	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	67723802	103340465	37872966	41	17502											
ABCC2	1244	genome.wustl.edu	37	chr10	101595898	101595898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtctggactctgtcacCaggtccccaatctactctca	8	15	5	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr10:101595898C>T	ENST00000370449.4	+	25	3578	c.3465C>T	c.(3463-3465)acC>acT	p.T1155T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1155	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACTCTGTCACCAGGTCCCCAA	0.512																																																	0								ENSG00000023839						137	126	130					10																	101595898		2203	4300	6503	ABCC2	SO:0001819	synonymous_variant	0			-	HGNC	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3465C>T	10.37:g.101595898C>T		Somatic	0	55	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	32	57.89	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.T1155	ENST00000370449.4	37	c.3465	CCDS7484.1	10																																																																																			-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.512	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	C	NM_000392	-		101595898	1	no_errors	ENST00000370449	ensembl	human	known	74_37	silent	SNP	0.997	T	T	101595898	C	T	101595898	2	4	214	1	0	0	0	0	0	0	0	1	53	581	21	2		2	ABCC2	10	101595898	Silent	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09		101595898	33938849	42	17503											
LOC653486	147199	genome.wustl.edu	37	chr11	194424	194424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgccttccaggtgcaaGtgctgggcagtcaggacggt	15	10	2	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:194424G>A	ENST00000342878.2	+	3	282	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	ODF3_ENST00000525282.1_5'Flank|ODF3_ENST00000342593.5_5'Flank|ODF3_ENST00000325113.4_5'Flank|BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	88						extracellular region (GO:0005576)				endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCAGGTGCAAGTGCTGGGCAG	0.602																																																	0								ENSG00000188076						157	163	161					11																	194424		2158	4256	6414	SCGB1C1	SO:0001583	missense	0			-	HGNC	AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"Secretoglobins"	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.262G>A	11.37:g.194424G>A	ENSP00000344545:p.Val88Met	Somatic	0	101	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	75	12.79	A8MSI9|Q14DW0	Missense_Mutation	SNP							pfam_Secretoglobin,superfamily_Secretoglobin	p.V88M	ENST00000342878.2	37	c.262	CCDS41581.1	11	.	.	.	.	.	.	.	.	.	.	.	13.63	2.294603	0.40594	.	.	ENSG00000188076	ENST00000342878	T	0.19394	2.15	4.14	4.14	0.48551	.	0.105822	0.41712	D	0.000833	T	0.43590	0.1254	.	.	.	0.32908	D	0.51415	D	0.76494	0.999	D	0.91635	0.999	T	0.55945	-0.8060	9	0.72032	D	0.01	-48.5404	12.2031	0.54337	0.0:0.0:1.0:0.0	.	88	Q8TD33	SG1C1_HUMAN	M	88	ENSP00000344545:V88M	ENSP00000344545:V88M	V	+	1	0	SCGB1C1	184424	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	3.182000	0.50910	2.604000	0.88044	0.491000	0.48974	GTG	-	pfam_Secretoglobin,superfamily_Secretoglobin		0.602	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1C1	protein_coding	OTTHUMT00000384759.1	G	NM_145651	-		194424	1	no_errors	ENST00000342878	ensembl	human	known	74_37	missense	SNP	1.000	A	A	194424	G	A	194424	3	1	214	1	0	0	0	0	1	0	0	0	8888	1029	36	2	272	2	LOC653486	11	194424	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		194424	134812092	43	17504											
IFITM3	10410	genome.wustl.edu	37	chr11	320723	320723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggggcgcccccagcaCagccacctcgtgctcctcct	11	18	0	0	rs199582787	byFrequency	TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:320723C>T	ENST00000399808.4	-	1	327	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	IFITM3_ENST00000526811.1_Missense_Mutation_p.V10M|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.V10M	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	31					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCCCAGCACAGCCACCTCG	0.612																																																	0								ENSG00000142089						87	98	95					11																	320723		1967	4140	6107	IFITM3	SO:0001583	missense	0			-	HGNC	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"interferon induced transmembrane protein 3 (1-8U)"			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.91G>A	11.37:g.320723C>T	ENSP00000382707:p.Val31Met	Somatic	0	63	0		0.591229292315791	1270	4.57	61	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP							pfam_CD225/Dispanin_fam	p.V31M	ENST00000399808.4	37	c.91	CCDS41585.1	11	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526447	0.27299	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.79454	-1.03;-1.27	4.61	-4.91	0.03085	.	11.488500	0.02440	N	0.084490	T	0.64516	0.2605	L	0.39147	1.195	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.46400	-0.9194	10	0.13108	T	0.6	0.9022	6.4601	0.21952	0.1231:0.361:0.0:0.5159	.	31	Q01628	IFM3_HUMAN	M	31;15;10	ENSP00000382707:V31M;ENSP00000432108:V10M	ENSP00000372047:V15M	V	-	1	0	IFITM3	310723	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.638000	0.02013	-0.562000	0.06086	-1.790000	0.00627	GTG	-	NULL		0.612	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM3	protein_coding	OTTHUMT00000384765.1	C	NM_021034	rs199582787		320723	-1	no_errors	ENST00000399808	ensembl	human	known	74_37	missense	SNP	0.000	T	T	320723	C	T	320723	3	4	214	1	0	0	0	0	1	0	0	0	7530	478	17	2	318	2	IFITM3	11	320723	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	126299	320723	134685793	44	17505											
AP2A2	161	genome.wustl.edu	37	chr11	970176	970176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttttctgtaggtgacaaGgctcttgatggctatagtaa	10	7	2	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:970176G>T	ENST00000448903.2	+	3	285	c.144G>T	c.(142-144)aaG>aaT	p.K48N	AP2A2_ENST00000534328.1_Missense_Mutation_p.K48N|AP2A2_ENST00000332231.5_Missense_Mutation_p.K48N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	48	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TAGGTGACAAGGCTCTTGATG	0.512																																																	0								ENSG00000183020						129	132	131					11																	970176		1966	4151	6117	AP2A2	SO:0001583	missense	0			-	HGNC	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.144G>T	11.37:g.970176G>T	ENSP00000413234:p.Lys48Asn	Somatic	0	69	0		0.591229292315791	71	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.K48N	ENST00000448903.2	37	c.144	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171484	0.38315	.	.	ENSG00000183020	ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310;ENST00000531548;ENST00000534485;ENST00000527024	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	3.26	1.37	0.22104	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.77820	2.39	0.58432	D	0.999997	B;B	0.30281	0.233;0.275	B;B	0.31751	0.083;0.135	T	0.25117	-1.0141	10	0.46703	T	0.11	-18.9098	6.9552	0.24568	0.388:0.0:0.612:0.0	.	48;48	O94973-2;O94973	.;AP2A2_HUMAN	N	48;48;48;48;48;48;48;54;38;42	ENSP00000436059:K48N;ENSP00000413234:K48N;ENSP00000327694:K48N;ENSP00000433498:K54N;ENSP00000435756:K38N;ENSP00000434563:K42N	ENSP00000327694:K48N	K	+	3	2	AP2A2	960176	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.006000	0.57083	0.404000	0.25506	0.563000	0.77884	AAG	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.512	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	protein_coding	OTTHUMT00000385431.2	G	NM_012305	-		970176	1	no_errors	ENST00000332231	ensembl	human	known	74_37	missense	SNP	1.000	T	T	970176	G	T	970176	3	4	214	1	0	0	0	0	1	0	0	0	740	991	35	3	154	3	AP2A2	11	970176	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	649453	970176	134036340	45	17506											
DCHS1	8642	genome.wustl.edu	37	chr11	6661596	6661596	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatagatgacgctgtcttGggtgcttagggcaaagtggc	15	7	1	3			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:6661596G>T	ENST00000299441.3	-	2	1660	c.1249C>A	c.(1249-1251)Caa>Aaa	p.Q417K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q417fs*24(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCTGTCTTGGGTGCTTAGG	0.562																																																	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000166341						53	48	50					11																	6661596		2201	4296	6497	DCHS1	SO:0001583	missense	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1249C>A	11.37:g.6661596G>T	ENSP00000299441:p.Gln417Lys	Somatic	0	70	0		0.591229292315791	48	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	O15098	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q417K	ENST00000299441.3	37	c.1249	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	3.812	-0.039532	0.07497	.	.	ENSG00000166341	ENST00000299441	T	0.50001	0.76	5.67	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.000000	0.43110	D	0.000602	T	0.30696	0.0773	N	0.03281	-0.365	0.41973	D	0.990761	B	0.27416	0.178	B	0.43783	0.431	T	0.20107	-1.0285	10	0.06365	T	0.9	.	11.6327	0.51185	0.0:0.0:0.6851:0.3149	.	417	Q96JQ0	PCD16_HUMAN	K	417	ENSP00000299441:Q417K	ENSP00000299441:Q417K	Q	-	1	0	DCHS1	6618172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.667000	0.68067	2.661000	0.90470	0.637000	0.83480	CAA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	G	NM_003737	-		6661596	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6661596	G	T	6661596	3	4	214	1	0	0	0	0	1	0	0	0	4289	1357	47	3	8727	3	DCHS1	11	6661596	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	5691420	6661596	128344920	46	17507											
DCHS1	8642	genome.wustl.edu	37	chr11	6662445	6662445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatggtcgttgatgtcagCcactcgcactgtaacttcta	9	11	2	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:6662445C>A	ENST00000299441.3	-	2	811	c.400G>T	c.(400-402)Gct>Tct	p.A134S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	134	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGTCAGCCACTCGCACT	0.617																																																	0								ENSG00000166341						88	60	69					11																	6662445		2201	4296	6497	DCHS1	SO:0001583	missense	0			-	HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.400G>T	11.37:g.6662445C>A	ENSP00000299441:p.Ala134Ser	Somatic	0	43	0		0.591229292315791	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O15098	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A134S	ENST00000299441.3	37	c.400	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	9.888	1.203407	0.22121	.	.	ENSG00000166341	ENST00000299441	T	0.37752	1.18	5.41	3.54	0.40534	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.146701	0.31438	N	0.007655	T	0.25269	0.0614	N	0.03948	-0.315	0.25003	N	0.99145	D	0.53312	0.959	P	0.61070	0.883	T	0.14615	-1.0466	10	0.09338	T	0.73	.	8.1618	0.31202	0.0:0.7511:0.0:0.2489	.	134	Q96JQ0	PCD16_HUMAN	S	134	ENSP00000299441:A134S	ENSP00000299441:A134S	A	-	1	0	DCHS1	6619021	0.976000	0.34144	1.000000	0.80357	0.986000	0.74619	2.064000	0.41432	1.290000	0.44636	-0.148000	0.13756	GCT	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	C	NM_003737	-		6662445	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	SNP	0.990	A	A	6662445	C	A	6662445	3	1	214	1	0	0	0	0	1	0	0	0	4289	739	26	3	9576	3	DCHS1	11	6662445	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	849	6662445	128344071	47	17508											
BTBD10	84280	genome.wustl.edu	37	chr11	13441262	13441262	+	Frame_Shift_Del	DEL	G	G	-													tttgaggacgcggactgcttGgacgagaggaactgtgatct							TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:13441262delG	ENST00000278174.5	-	4	574	c.329delC	c.(328-330)ccafs	p.P110fs	BTBD10_ENST00000528120.1_Frame_Shift_Del_p.P62fs|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000530907.1_Frame_Shift_Del_p.P118fs	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	110	Ser-rich.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CGGACTGCTTGGACGAGAGGA	0.388																																																	0								ENSG00000148925						148	143	145					11																	13441262		2200	4294	6494	BTBD10	SO:0001589	frameshift_variant	0				HGNC	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.329delC	11.37:g.13441262delG	ENSP00000278174:p.Pro110fs	Somatic	0	38	0		0.591229292315791	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	14	82.50	B7Z228|Q86WG1	Frame_Shift_Del	DEL							superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.P110fs	ENST00000278174.5	37	c.329	CCDS7811.1	11																																																																																			-	NULL		0.388	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD10	protein_coding	OTTHUMT00000386200.1	G	NM_032320			13441262	-1	no_errors	ENST00000278174	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	13441262	G	-	13441262	7	5	214	1	0	1	0	1	0	0	0	0	1540	1348	47	0	1122	0	BTBD10	11	13441262	Frame_Shift_Del	DEL	G	TCGA-SI-A71Q-01A-12D-A33E-09	6778817	13441262	121565254	48	17509											
SPTY2D1	144108	genome.wustl.edu	37	chr11	18636260	18636260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagctactaactgtttgccCaggtcccaagctgctcactg	9	13	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:18636260C>A	ENST00000336349.5	-	3	1796	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	521	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTGTTTGCCCAGGTCCCAAG	0.502																																																	0								ENSG00000179119						57	56	56					11																	18636260		2199	4293	6492	SPTY2D1	SO:0001583	missense	0			-	HGNC	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1561G>T	11.37:g.18636260C>A	ENSP00000337991:p.Gly521Trp	Somatic	0	52	0		0.591229292315791	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP							pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.G521W	ENST00000336349.5	37	c.1561	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614703	0.66672	.	.	ENSG00000179119	ENST00000336349	T	0.34859	1.34	6.08	6.08	0.98989	.	0.388801	0.29328	N	0.012478	T	0.64394	0.2594	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63829	-0.6548	10	0.72032	D	0.01	-15.0826	20.6647	0.99678	0.0:1.0:0.0:0.0	.	521	Q68D10	SPT2_HUMAN	W	521	ENSP00000337991:G521W	ENSP00000337991:G521W	G	-	1	0	SPTY2D1	18592836	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	1.228000	0.32588	2.890000	0.99128	0.655000	0.94253	GGG	-	NULL		0.502	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	protein_coding	OTTHUMT00000395941.1	C	NM_194285	-		18636260	-1	no_errors	ENST00000336349	ensembl	human	known	74_37	missense	SNP	1.000	A	A	18636260	C	A	18636260	3	1	214	1	0	0	0	0	1	0	0	0	15133	594	21	3	512	3	SPTY2D1	11	18636260	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	5194998	18636260	116370256	49	17510											
GIF	2694	genome.wustl.edu	37	chr11	59612858	59612858	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatactcacagcatgaactCtgggtctgggtactagtccc	9	12	4	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:59612858C>A	ENST00000257248.2	-	1	116	c.69G>T	c.(67-69)caG>caT	p.Q23H	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	23			Q -> R (in dbSNP:rs35211634). {ECO:0000269|PubMed:14695536, ECO:0000269|PubMed:15738392}.		cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AGCATGAACTCTGGGTCTGGG	0.532																																					NSCLC(53;1139 1245 16872 38474 42853)												0								ENSG00000134812						152	150	150					11																	59612858		2201	4295	6496	GIF	SO:0001583	missense	0			-	HGNC	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.69G>T	11.37:g.59612858C>A	ENSP00000257248:p.Gln23His	Somatic	0	42	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RAN8|B4DVZ1	Missense_Mutation	SNP							pfam_Cbl-bd_transpt_euk	p.Q23H	ENST00000257248.2	37	c.69	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607595	0.28623	.	.	ENSG00000134812	ENST00000257248	T	0.35973	1.28	5.46	-1.87	0.07737	.	0.905508	0.09152	N	0.841440	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.32425	0.371;0.371	B;B	0.41466	0.358;0.358	T	0.44907	-0.9297	10	0.35671	T	0.21	2.9968	11.1349	0.48368	0.0:0.6163:0.0:0.3837	.	23;23	B4DVY6;P27352	.;IF_HUMAN	H	23	ENSP00000257248:Q23H	ENSP00000257248:Q23H	Q	-	3	2	GIF	59369434	0.000000	0.05858	0.005000	0.12908	0.053000	0.15095	-0.337000	0.07852	-0.195000	0.10382	0.561000	0.74099	CAG	-	pfam_Cbl-bd_transpt_euk		0.532	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	protein_coding	OTTHUMT00000394497.1	C	NM_005142	-		59612858	-1	no_errors	ENST00000257248	ensembl	human	known	74_37	missense	SNP	0.000	A	A	59612858	C	A	59612858	3	1	214	1	0	0	0	0	1	0	0	0	6378	912	32	3	1220	3	GIF	11	59612858	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	40976598	59612858	75393658	50	17511											
METTL12	751071	genome.wustl.edu	37	chr11	62434093	62434093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctctacaccaaatctcCacacccagtggatgtgctgg	9	14	2	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:62434093C>A	ENST00000532971.1	+	3	550	c.293C>A	c.(292-294)cCa>cAa	p.P98Q	C11orf48_ENST00000532208.1_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000354588.3_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	98						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						ACCAAATCTCCACACCCAGTG	0.597																																																	0								ENSG00000214756						57	63	61					11																	62434093		1954	4139	6093	METTL12	SO:0001583	missense	0			-	HGNC	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.293C>A	11.37:g.62434093C>A	ENSP00000431287:p.Pro98Gln	Somatic	0	36	0		0.591229292315791	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B7Z4C1	Missense_Mutation	SNP							pfam_Methyltransf_11	p.P98Q	ENST00000532971.1	37	c.293	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712328	0.68730	.	.	ENSG00000214756	ENST00000532971	T	0.52983	0.64	4.5	4.5	0.54988	Methyltransferase type 11 (1);	0.103466	0.37530	U	0.002048	T	0.67618	0.2912	M	0.79475	2.455	0.34396	D	0.694715	D	0.76494	0.999	D	0.75484	0.986	T	0.75221	-0.3394	10	0.35671	T	0.21	-11.3642	15.1079	0.72334	0.0:1.0:0.0:0.0	.	98	A8MUP2	MTL12_HUMAN	Q	98	ENSP00000431287:P98Q	ENSP00000431287:P98Q	P	+	2	0	METTL12	62190669	0.083000	0.21467	0.974000	0.42286	0.994000	0.84299	2.696000	0.47052	2.503000	0.84419	0.655000	0.94253	CCA	-	pfam_Methyltransf_11		0.597	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	protein_coding	OTTHUMT00000394990.1	C	NM_001043229	-		62434093	1	no_errors	ENST00000532971	ensembl	human	known	74_37	missense	SNP	0.977	A	A	62434093	C	A	62434093	3	1	214	1	0	0	0	0	1	0	0	0	9498	594	21	3	299	3	METTL12	11	62434093	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	2821235	62434093	72572423	51	17512											
TSKU	25987	genome.wustl.edu	37	chr11	76507195	76507195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgccccaccccacgaggGccggcctgcctgcgcccacc	11	22	0	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:76507195G>T	ENST00000527881.1	+	2	1561	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S	TSKU_ENST00000333090.4_Missense_Mutation_p.A179S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	179					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)					CCCCACGAGGGCCGGCCTGCC	0.667																																																	0								ENSG00000182704						60	68	65					11																	76507195		2200	4292	6492	TSKU	SO:0001583	missense	0			-	HGNC	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.535G>T	11.37:g.76507195G>T	ENSP00000434847:p.Ala179Ser	Somatic	0	34	0		0.591229292315791	331	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A179S	ENST00000527881.1	37	c.535	CCDS8246.1	11	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692351	0.03303	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.33654	1.4;1.4	5.01	2.81	0.32909	.	0.409578	0.18086	N	0.152153	T	0.28167	0.0695	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	10	0.54805	T	0.06	-23.3784	4.3034	0.10935	0.1674:0.0:0.5662:0.2664	.	179	Q8WUA8	TSK_HUMAN	S	179;147;179	ENSP00000332668:A179S;ENSP00000434847:A179S	ENSP00000332668:A179S	A	+	1	0	TSKU	76184843	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.294000	0.19047	1.043000	0.40175	0.655000	0.94253	GCC	-	NULL		0.667	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSKU	protein_coding	OTTHUMT00000382871.1	G	NM_015516	-		76507195	1	no_errors	ENST00000333090	ensembl	human	known	74_37	missense	SNP	0.009	T	T	76507195	G	T	76507195	3	4	214	1	0	0	0	0	1	0	0	0	16634	1203	42	3	537	3	TSKU	11	76507195	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	14073102	76507195	58499321	52	17513											
SIK3	23387	genome.wustl.edu	37	chr11	116729350	116729350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaaccccgggactggtccGaaaacagatgggggtgtaaa	16	8	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:116729350G>A	ENST00000292055.4	-	20	2548	c.2513C>T	c.(2512-2514)tCg>tTg	p.S838L	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.S896L	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	838	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGACTGGTCCGAAAACAGATG	0.557																																																	0								ENSG00000160584						74	78	76					11																	116729350		2201	4296	6497	SIK3	SO:0001583	missense	0			-	HGNC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2513C>T	11.37:g.116729350G>A	ENSP00000292055:p.Ser838Leu	Somatic	0	54	0		0.591229292315791	14	26.32	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.S896L	ENST00000292055.4	37	c.2687	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373041	0.61624	.	.	ENSG00000160584	ENST00000375300;ENST00000292055	T;T	0.73789	-0.75;-0.78	5.67	4.72	0.59763	.	0.439086	0.16781	N	0.199764	T	0.57475	0.2056	N	0.24115	0.695	0.80722	D	1	P;P	0.49635	0.926;0.878	B;B	0.33960	0.173;0.084	T	0.61178	-0.7115	10	0.51188	T	0.08	.	13.6458	0.62281	0.0787:0.0:0.9213:0.0	.	838;838	Q9Y2K2-3;Q9Y2K2	.;SIK3_HUMAN	L	896;838	ENSP00000364449:S896L;ENSP00000292055:S838L	ENSP00000292055:S838L	S	-	2	0	SIK3	116234560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.581000	0.74045	1.289000	0.44618	-0.345000	0.07892	TCG	-	NULL		0.557	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	protein_coding		G	NM_025164	-		116729350	-1	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	SNP	1.000	A	A	116729350	G	A	116729350	3	1	214	1	0	0	0	0	1	0	0	0	14327	1059	37	1	1294	1	SIK3	11	116729350	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	40222155	116729350	18277166	53	17514											
MLL	4297	genome.wustl.edu	37	chr11	118344494	118344495	+	Frame_Shift_Del	DEL	AG	AG	-													gcgtggagaaggacaagagtAgagagagagaccgggagaga					rs369821804		TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:118344494_118344495delAG	ENST00000389506.5	+	3	2620_2621	c.2620_2621delAG	c.(2620-2622)agafs	p.R874fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.R874fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.R874fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	874					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ggacaagagtagagagagagac	0.48																																																	0								ENSG00000118058																																			KMT2A	SO:0001589	frameshift_variant	0				HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2620_2621delAG	11.37:g.118344502_118344503delAG	ENSP00000374157:p.Arg874fs	Somatic	0	41	0		0.591229292315791	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.D877fs	ENST00000389506.5	37	c.2620_2621	CCDS31686.1	11																																																																																			-	pirsf_MeTrfase_trithorax		0.48	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	AG	NM_005933			118344495	1	no_errors	ENST00000389506	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	118344495	AG	-	118344494	7	5	214	1	0	1	0	1	0	0	0	0	9622	412	15	0	2630	0	MLL	11	118344494	Frame_Shift_Del	DEL	AG	TCGA-SI-A71Q-01A-12D-A33E-09	1615144	118344494	16662022	54	17515											
C2CD2L	1798	genome.wustl.edu	37	chr11	118981867	118981867	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcagggcttgctctgccCcaggaggcctggtgagttgg	15	12	2	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr11:118981867C>A	ENST00000409993.2	-	0	0				C2CD2L_ENST00000336702.3_Missense_Mutation_p.P263T|C2CD2L_ENST00000528586.1_Missense_Mutation_p.P11T			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|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)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTGCTCTGCCCCAGGAGGCCT	0.517																																																	0								ENSG00000172375						144	144	144					11																	118981867		2200	4295	6495	C2CD2L	SO:0001631	upstream_gene_variant	0			-	HGNC	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981867C>A	Exception_encountered	Somatic	0	74	0		0.591229292315791	17	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP							superfamily_C2_dom	p.P263T	ENST00000409993.2	37	c.787	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188499	0.21954	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.80393	-1.37;-1.37	4.7	2.73	0.32206	.	0.388845	0.28166	N	0.016352	T	0.65207	0.2669	N	0.24115	0.695	0.43857	D	0.996454	B;B	0.16802	0.019;0.019	B;B	0.18561	0.022;0.022	T	0.53308	-0.8457	10	0.23891	T	0.37	-30.9038	8.6886	0.34254	0.2734:0.4602:0.2664:0.0	.	263;263	O14523;O14523-2	C2C2L_HUMAN;.	T	263;11	ENSP00000338885:P263T;ENSP00000433600:P11T	ENSP00000338885:P263T	P	+	1	0	C2CD2L	118487077	.	.	1.000000	0.80357	0.911000	0.54048	.	.	0.531000	0.28639	0.563000	0.77884	CCA	-	NULL		0.517	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	protein_coding	OTTHUMT00000331527.2	C	NM_001382	-		118981867	1	no_errors	ENST00000336702	ensembl	human	known	74_37	missense	SNP	0.996	A	A	118981867	C	A	118981867	1	1	214	0	1	0	0	0	0	0	0	0	2155	623	22	3		3	C2CD2L	11	118981867	5'Flank	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	637373	118981867	16024649	55	17516											
KRT6C	286887	genome.wustl.edu	37	chr12	52865298	52865298	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtaggcagcatccacAtcctggggaaagagccaaca	10	11	1	1	rs201562541	byFrequency	TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr12:52865298A>G	ENST00000252250.6	-	4	866	c.819T>C	c.(817-819)gaT>gaC	p.D273D		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	273	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAGCATCCACATCCTGGGGAA	0.507																																																	0								ENSG00000170465						48	48	48					12																	52865298		2203	4297	6500	KRT6C	SO:0001819	synonymous_variant	0			-	HGNC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.819T>C	12.37:g.52865298A>G		Somatic	0	50	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	111	9.02	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.D273	ENST00000252250.6	37	c.819	CCDS8829.1	12																																																																																			-	pfam_IF		0.507	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	protein_coding	OTTHUMT00000404976.1	A	NM_173086	rs201562541		52865298	-1	no_errors	ENST00000252250	ensembl	human	known	74_37	silent	SNP	0.998	G	G	52865298	A	G	52865298	2	3	214	1	0	0	0	0	0	0	0	1	8484	214	8	5		5	KRT6C	12	52865298	Silent	SNP	A	TCGA-SI-A71Q-01A-12D-A33E-09		52865298	80986597	56	17517											
LCP1	3936	genome.wustl.edu	37	chr13	46717443	46717443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcttcatattgcctccCagtttggggtatggcggttt	10	10	2	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr13:46717443C>T	ENST00000398576.2	-	15	1738	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	LCP1_ENST00000323076.2_Silent_p.L450L|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	450	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TATTGCCTCCCAGTTTGGGGT	0.438			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0								ENSG00000136167						179	146	157					13																	46717443		2203	4300	6503	LCP1	SO:0001819	synonymous_variant	0			-	HGNC	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1350G>A	13.37:g.46717443C>T		Somatic	0	89	0		0.591229292315791	17	15	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	94	23.58	B2R613|B4DUA0|Q5TBN4	Silent	SNP							pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.L450	ENST00000398576.2	37	c.1350	CCDS9403.1	13																																																																																			-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.438	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	protein_coding	OTTHUMT00000044800.3	C	NM_002298	-		46717443	-1	no_errors	ENST00000323076	ensembl	human	known	74_37	silent	SNP	1.000	T	T	46717443	C	T	46717443	2	4	214	1	0	0	0	0	0	0	0	1	8693	581	21	2		2	LCP1	13	46717443	Silent	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09		46717443	68452435	57	17518											
NIN	51199	genome.wustl.edu	37	chr14	51243731	51243731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttccggttcaggTgaccatcacgggtgatcccc	10	15	3	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr14:51243731T>A	ENST00000382041.3	-	7	792	c.602A>T	c.(601-603)cAc>cTc	p.H201L	NIN_ENST00000245441.5_Missense_Mutation_p.H201L|NIN_ENST00000530997.2_Missense_Mutation_p.H201L|NIN_ENST00000382043.4_Missense_Mutation_p.H201L|NIN_ENST00000453196.1_Missense_Mutation_p.H201L|NIN_ENST00000389868.3_Missense_Mutation_p.H201L|NIN_ENST00000324330.9_Missense_Mutation_p.H201L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	201	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					CCGGTTCAGGTGACCATCACG	0.463			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								ENSG00000100503						120	109	113					14																	51243731		2203	4300	6503	NIN	SO:0001583	missense	0			-	HGNC	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.602A>T	14.37:g.51243731T>A	ENSP00000371472:p.His201Leu	Somatic	0	25	0		0.591229292315791	15	21.05	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	54	35.71	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP							superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.H201L	ENST00000382041.3	37	c.602	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632136	0.67015	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.76	5.76	0.90799	EF-hand-like domain (1);	0.441675	0.29501	N	0.011969	T	0.36608	0.0973	N	0.24115	0.695	0.30734	N	0.746946	P;D;D;P;D	0.89917	0.923;0.999;1.0;0.915;0.999	P;D;D;B;D	0.85130	0.652;0.95;0.997;0.217;0.994	T	0.25433	-1.0132	10	0.28530	T	0.3	-17.4188	15.5501	0.76145	0.0:0.0:0.0:1.0	.	207;201;201;201;201	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	L	201;201;201;201;207;201;201;201;163	ENSP00000245441:H201L;ENSP00000374518:H201L;ENSP00000371474:H201L;ENSP00000371472:H201L;ENSP00000324210:H201L;ENSP00000412391:H201L;ENSP00000398641:H163L	ENSP00000245441:H201L	H	-	2	0	NIN	50313481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.275000	0.43399	2.315000	0.78130	0.533000	0.62120	CAC	-	NULL		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	protein_coding	OTTHUMT00000395207.2	T	NM_182946	-		51243731	-1	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51243731	T	A	51243731	3	1	214	1	0	0	0	0	1	0	0	0	10419	1696	59	5	6047	5	NIN	14	51243731	Missense_Mutation	SNP	T	TCGA-SI-A71Q-01A-12D-A33E-09		51243731	56105809	58	17519											
MGA	23269	genome.wustl.edu	37	chr15	41961309	41961309	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctgattgtactgtgGgtggaatcactgttaccctc	10	10	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr15:41961309G>C	ENST00000570161.1	+	1	217	c.217G>C	c.(217-219)Ggt>Cgt	p.G73R	MGA_ENST00000389936.4_Missense_Mutation_p.G73R|MGA_ENST00000219905.7_Missense_Mutation_p.G73R|MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.G73R|MGA_ENST00000566586.1_Missense_Mutation_p.G73R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Ser/Thr-rich.				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)	TTGTACTGTGGGTGGAATCAC	0.423																																																	0								ENSG00000174197						132	130	130					15																	41961309		1905	4127	6032	MGA	SO:0001583	missense	0			-	HGNC	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.217G>C	15.37:g.41961309G>C	ENSP00000457035:p.Gly73Arg	Somatic	0	50	0		0.591229292315791	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	78	27.78	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.G73R	ENST00000570161.1	37	c.217	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345102	0.61073	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84298	-1.82;-1.83;-1.8	5.51	5.51	0.81932	.	0.107905	0.64402	D	0.000005	D	0.87669	0.6235	L	0.29908	0.895	0.41525	D	0.988428	P;D	0.59767	0.891;0.986	P;P	0.61477	0.74;0.889	D	0.87769	0.2604	10	0.49607	T	0.09	.	19.7791	0.96410	0.0:0.0:1.0:0.0	.	73;73	F5H7K2;E7ENI0	.;.	R	73	ENSP00000219905:G73R;ENSP00000374586:G73R;ENSP00000442467:G73R	ENSP00000219905:G73R	G	+	1	0	MGA	39748601	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.245000	0.65405	2.763000	0.94921	0.650000	0.86243	GGT	-	NULL		0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1	-		41961309	1	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	SNP	1.000	C	C	41961309	G	C	41961309	3	2	214	1	0	0	0	0	1	0	0	0	9542	1232	43	4	219	4	MGA	15	41961309	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		41961309	60570083	59	17520											
PAQR4	124222	genome.wustl.edu	37	chr16	3021235	3021235	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaaggatggctggctgGgaggcacacattgcgtggcc	18	9	0	0	rs377141489		TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr16:3021235G>T	ENST00000318782.8	+	2	674	c.244G>T	c.(244-246)Gga>Tga	p.G82*	PAQR4_ENST00000576565.1_Nonsense_Mutation_p.G15*|PAQR4_ENST00000574988.1_Nonsense_Mutation_p.G15*|PAQR4_ENST00000293978.8_Intron|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000572687.1_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	82						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGGCTGGCTGGGAGGCACACA	0.642																																																	0								ENSG00000162073						54	53	53					16																	3021235		2197	4300	6497	PAQR4	SO:0001587	stop_gained	0			-	HGNC		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.244G>T	16.37:g.3021235G>T	ENSP00000321804:p.Gly82*	Somatic	0	65	0		0.591229292315791	72	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Nonsense_Mutation	SNP							pfam_HlyIII-related	p.G82*	ENST00000318782.8	37	c.244	CCDS10485.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.078786	0.94050	.	.	ENSG00000162073	ENST00000318782	.	.	.	4.73	3.76	0.43208	.	0.114835	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-3.6598	11.7466	0.51823	0.0:0.0:0.8128:0.1871	.	.	.	.	X	82	.	ENSP00000321804:G82X	G	+	1	0	PAQR4	2961236	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	2.626000	0.46460	0.949000	0.37715	0.462000	0.41574	GGA	-	pfam_HlyIII-related		0.642	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR4	protein_coding	OTTHUMT00000250966.1	G	NM_152341	-		3021235	1	no_errors	ENST00000318782	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	3021235	G	T	3021235	4	4	214	1	0	0	0	0	0	1	0	0	11439	1233	43	3	250	3	PAQR4	16	3021235	Nonsense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		3021235	87333518	60	17521											
SLC38A8	146167	genome.wustl.edu	37	chr16	84063139	84063139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggggaagacactgaacacaGaggtccaggaggcagggctg	17	8	0	3	rs146442665	byFrequency	TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr16:84063139G>A	ENST00000299709.3	-	5	649	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	217					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACTGAACACAGAGGTCCAGGA	0.502																																																	0								ENSG00000166558						92	90	90					16																	84063139		2200	4300	6500	SLC38A8	SO:0001583	missense	0			-	HGNC		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.650C>T	16.37:g.84063139G>A	ENSP00000299709:p.Ser217Phe	Somatic	0	105	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31		Missense_Mutation	SNP							pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.S217F	ENST00000299709.3	37	c.650	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033913	0.54896	.	.	ENSG00000166558	ENST00000299709	T	0.02498	4.27	5.25	4.28	0.50868	.	0.115957	0.64402	D	0.000010	T	0.04770	0.0129	L	0.47716	1.5	0.80722	D	1	B	0.33494	0.414	B	0.38378	0.272	T	0.43972	-0.9358	10	0.48119	T	0.1	.	13.2767	0.60191	0.0775:0.0:0.9225:0.0	.	217	A6NNN8	S38A8_HUMAN	F	217	ENSP00000299709:S217F	ENSP00000299709:S217F	S	-	2	0	SLC38A8	82620640	1.000000	0.71417	0.955000	0.39395	0.905000	0.53344	6.957000	0.76019	2.621000	0.88768	0.643000	0.83706	TCT	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease		0.502	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	protein_coding	OTTHUMT00000432623.1	G	NM_001080442	-		84063139	-1	no_errors	ENST00000299709	ensembl	human	known	74_37	missense	SNP	0.998	A	A	84063139	G	A	84063139	3	1	214	1	0	0	0	0	1	0	0	0	14618	942	33	2	681	2	SLC38A8	16	84063139	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	81041904	84063139	6291614	61	17522											
CASC3	22794	genome.wustl.edu	37	chr17	38324174	38324174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagggcatgcttgtgCagccaggaatgaaccttccc	10	14	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr17:38324174C>T	ENST00000264645.7	+	10	1949	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	575	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGCTTGTGCAGCCAGGAAT	0.517																																																	0								ENSG00000108349						145	125	132					17																	38324174		2203	4300	6503	CASC3	SO:0001587	stop_gained	0			-	HGNC	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1723C>T	17.37:g.38324174C>T	ENSP00000264645:p.Gln575*	Somatic	0	79	0		0.591229292315791	127	14.19	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	49	55.86	A8K8R0	Nonsense_Mutation	SNP							pfam_Btz_dom	p.Q575*	ENST00000264645.7	37	c.1723	CCDS11362.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.712659	0.98925	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.09	5.09	0.68999	.	0.186120	0.48286	D	0.000190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.0313	18.2998	0.90160	0.0:1.0:0.0:0.0	.	.	.	.	X	575	.	ENSP00000264645:Q575X	Q	+	1	0	CASC3	35577700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.059000	0.76684	2.651000	0.90000	0.563000	0.77884	CAG	-	NULL		0.517	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	protein_coding	OTTHUMT00000257127.3	C	NM_007359	-		38324174	1	no_errors	ENST00000264645	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	38324174	C	T	38324174	4	4	214	1	0	0	0	0	0	1	0	0	2663	711	25	2	1761	2	CASC3	17	38324174	Nonsense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09		38324174	42871036	62	17523											
MRC2	9902	genome.wustl.edu	37	chr17	60758429	60758429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggcttctccagttctccCgggcccaggagcagcactgg	12	16	2	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr17:60758429C>A	ENST00000303375.5	+	18	3043	c.2641C>A	c.(2641-2643)Cgg>Agg	p.R881R	MRC2_ENST00000446119.2_5'Flank|RNU6-446P_ENST00000362827.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	881	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAGTTCTCCCGGGCCCAGGA	0.682																																																	0								ENSG00000011028						28	26	27					17																	60758429		2203	4300	6503	MRC2	SO:0001819	synonymous_variant	0			-	HGNC	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2641C>A	17.37:g.60758429C>A		Somatic	0	57	0		0.591229292315791	932	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.R881	ENST00000303375.5	37	c.2641	CCDS11634.1	17																																																																																			-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.682	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	protein_coding	OTTHUMT00000445152.1	C		-		60758429	1	no_errors	ENST00000303375	ensembl	human	known	74_37	silent	SNP	0.993	A	A	60758429	C	A	60758429	2	1	214	1	0	0	0	0	0	0	0	1	9760	643	23	3		3	MRC2	17	60758429	Silent	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	22434255	60758429	20436781	63	17524											
DCC	1630	genome.wustl.edu	37	chr18	49867196	49867196	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgggtacccaagctGgcttttgtactcttcggagc	12	9	1	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr18:49867196G>T	ENST00000442544.2	+	1	655	c.39G>T	c.(37-39)ctG>ctT	p.L13L	RP11-25O3.1_ENST00000582700.1_lincRNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	13					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TACCCAAGCTGGCTTTTGTAC	0.547																																																	0								ENSG00000187323						250	211	224					18																	49867196		2203	4300	6503	DCC	SO:0001819	synonymous_variant	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.39G>T	18.37:g.49867196G>T		Somatic	0	51	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Silent	SNP							pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L13	ENST00000442544.2	37	c.39	CCDS11952.1	18																																																																																			-	pfscan_Ig-like_dom		0.547	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		49867196	1	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	SNP	1.000	T	T	49867196	G	T	49867196	2	4	214	1	0	0	0	0	0	0	0	1	4284	1335	47	3		3	DCC	18	49867196	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		49867196	28210052	64	17525											
ARRDC5	645432	genome.wustl.edu	37	chr19	4891074	4891074	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacttaattctggtgatctGggttcacgggtaacactccg	11	10	3	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:4891074G>C	ENST00000381781.2	-	3	1012	c.1013C>G	c.(1012-1014)cCa>cGa	p.P338R	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	338										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CTGGTGATCTGGGTTCACGGG	0.502																																																	0								ENSG00000205784						69	70	70					19																	4891074		1981	4173	6154	ARRDC5	SO:0001583	missense	0			-	HGNC		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.1013C>G	19.37:g.4891074G>C	ENSP00000371200:p.Pro338Arg	Somatic	0	73	0		0.591229292315791	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	100	37.80		Missense_Mutation	SNP							pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.P338R	ENST00000381781.2	37	c.1013	CCDS45929.1	19	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116419	0.06881	.	.	ENSG00000205784	ENST00000381781	T	0.17213	2.29	3.68	-7.36	0.01417	Immunoglobulin E-set (1);	2.856690	0.02009	N	0.046854	T	0.11153	0.0272	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21381	-1.0247	10	0.66056	D	0.02	0.3088	6.3208	0.21217	0.0867:0.2957:0.4985:0.1191	.	338	A6NEK1	ARRD5_HUMAN	R	338	ENSP00000371200:P338R	ENSP00000371200:P338R	P	-	2	0	ARRDC5	4842074	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.387000	0.00488	-4.044000	0.00079	-1.075000	0.02238	CCA	-	superfamily_Ig_E-set		0.502	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	protein_coding	OTTHUMT00000450443.1	G	XM_292803	-		4891074	-1	no_errors	ENST00000381781	ensembl	human	known	74_37	missense	SNP	0.000	C	C	4891074	G	C	4891074	3	2	214	1	0	0	0	0	1	0	0	0	986	1348	47	4	19	4	ARRDC5	19	4891074	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09		4891074	54237909	65	17526											
ARRDC5	645432	genome.wustl.edu	37	chr19	4891142	4891142	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccactgaggcgctggtgatGatgatgggaactttggcctt	14	8	0	4			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:4891142G>T	ENST00000381781.2	-	3	944	c.945C>A	c.(943-945)atC>atA	p.I315I	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	315										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CGCTGGTGATGATGATGGGAA	0.572																																																	0								ENSG00000205784						116	121	119					19																	4891142		2154	4248	6402	ARRDC5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.945C>A	19.37:g.4891142G>T		Somatic	0	47	0		0.591229292315791	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	72	27.27		Silent	SNP							pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.I315	ENST00000381781.2	37	c.945	CCDS45929.1	19																																																																																			-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.572	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	protein_coding	OTTHUMT00000450443.1	G	XM_292803	-		4891142	-1	no_errors	ENST00000381781	ensembl	human	known	74_37	silent	SNP	0.019	T	T	4891142	G	T	4891142	2	4	214	1	0	0	0	0	0	0	0	1	986	1280	45	3		3	ARRDC5	19	4891142	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	68	4891142	54237841	66	17527											
TYK2	7297	genome.wustl.edu	37	chr19	10463610	10463610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctggtcaccagaacacGgggctgtccccatcctcgcg	11	18	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:10463610G>A	ENST00000525621.1	-	22	3673	c.3192C>T	c.(3190-3192)ccC>ccT	p.P1064P	TYK2_ENST00000524462.1_Silent_p.P879P|TYK2_ENST00000264818.6_Silent_p.P1064P|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1064	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACCAGAACACGGGGCTGTCCC	0.627																																																	0								ENSG00000105397						74	66	69					19																	10463610		2203	4300	6503	TYK2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3192C>T	19.37:g.10463610G>A		Somatic	0	54	0		0.591229292315791	54	42.71	41	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	12	55.56	Q6QB10|Q96CH0	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.P1064	ENST00000525621.1	37	c.3192	CCDS12236.1	19																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.627	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	protein_coding	OTTHUMT00000389443.1	G		-		10463610	-1	no_errors	ENST00000264818	ensembl	human	known	74_37	silent	SNP	0.036	A	A	10463610	G	A	10463610	2	1	214	1	0	0	0	0	0	0	0	1	16817	1103	39	1		1	TYK2	19	10463610	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	5572468	10463610	48665373	67	17528											
KEAP1	9817	genome.wustl.edu	37	chr19	10610197	10610197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccaggaagtcactGcaggcacggacaacgctgtc	12	13	1	0			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:10610197G>A	ENST00000171111.5	-	2	1060	c.513C>T	c.(511-513)tgC>tgT	p.C171C	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.C171C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	171					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGAAGTCACTGCAGGCACGGA	0.597																																																	0								ENSG00000079999						155	123	134					19																	10610197		2203	4300	6503	KEAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.513C>T	19.37:g.10610197G>A		Somatic	0	23	0		0.591229292315791	169	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C171	ENST00000171111.5	37	c.513	CCDS12239.1	19																																																																																			-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	protein_coding	OTTHUMT00000452000.1	G	NM_012289	-		10610197	-1	no_errors	ENST00000171111	ensembl	human	known	74_37	silent	SNP	1.000	A	A	10610197	G	A	10610197	2	1	214	1	0	0	0	0	0	0	0	1	8143	1311	46	2		2	KEAP1	19	10610197	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	146587	10610197	48518786	68	17529											
SLC1A6	6511	genome.wustl.edu	37	chr19	15082594	15082594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtaacaccagcatctgcaGcatcctcatcagaagctctc	7	14	4	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:15082594G>T	ENST00000221742.3	-	2	305	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	SLC1A6_ENST00000598504.1_Missense_Mutation_p.L100M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.L100M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.L100M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.A104D	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	100					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AGCATCTGCAGCATCCTCATC	0.577																																																	0								ENSG00000105143						147	125	133					19																	15082594		2203	4300	6503	SLC1A6	SO:0001583	missense	0			-	HGNC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.298C>A	19.37:g.15082594G>T	ENSP00000221742:p.Leu100Met	Somatic	0	71	0		0.591229292315791	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8N753	Missense_Mutation	SNP							pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L100M	ENST00000221742.3	37	c.298	CCDS12321.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488119|3.488119	0.64074|0.64074	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.73047|0.70399	-0.71|-0.48;-0.48	4.02|4.02	1.81|1.81	0.25067|0.25067	.|Sodium:dicarboxylate symporter, conserved site (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.81814|0.81814	0.4902|0.4902	M|M	0.82433|0.82433	2.59|2.59	0.48511|0.48511	D|D	0.99966|0.99966	P|D;D;D	0.44429|0.89917	0.835|1.0;1.0;1.0	B|D;D;D	0.42245|0.87578	0.381|0.994;0.998;0.997	T|T	0.81788|0.81788	-0.0772|-0.0772	9|10	0.31617|0.87932	T|D	0.26|0	-10.7462|-10.7462	8.2377|8.2377	0.31636|0.31636	0.2087:0.0:0.7913:0.0|0.2087:0.0:0.7913:0.0	.|.	104|100;101;100	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	D|M	104|100;100;101	ENSP00000409386:A104D|ENSP00000221742:L100M;ENSP00000446175:L100M	ENSP00000409386:A104D|ENSP00000221742:L100M	A|L	-|-	2|1	0|2	SLC1A6|SLC1A6	14943594|14943594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.981000|2.981000	0.49329|0.49329	0.904000|0.904000	0.36572|0.36572	0.561000|0.561000	0.74099|0.74099	GCT|CTG	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.577	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	protein_coding	OTTHUMT00000466283.1	G	NM_005071	-		15082594	-1	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15082594	G	T	15082594	3	4	214	1	0	0	0	0	1	0	0	0	14444	962	34	3	1428	3	SLC1A6	19	15082594	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	4472397	15082594	44046389	69	17530											
CEACAM5	1048	genome.wustl.edu	37	chr19	42224076	42224076	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctatgtatgtggaatcCagaactcagtgagtgcaaac	11	8	1	2			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:42224076C>T	ENST00000221992.6	+	7	1834	c.1720C>T	c.(1720-1722)Cag>Tag	p.Q574*	CEACAM5_ENST00000405816.1_Nonsense_Mutation_p.Q574*|CEACAM5_ENST00000398599.4_Nonsense_Mutation_p.Q573*|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	574	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ATGTGGAATCCAGAACTCAGT	0.522																																																	0								ENSG00000105388						206	188	194					19																	42224076		2203	4300	6503	CEACAM5	SO:0001587	stop_gained	0			-	HGNC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1720C>T	19.37:g.42224076C>T	ENSP00000221992:p.Gln574*	Somatic	0	107	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	136	32.67	H9KVA7	Nonsense_Mutation	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q574*	ENST00000221992.6	37	c.1720	CCDS12584.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.58|14.58	2.578622|2.578622	0.46006|0.46006	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|.	.|.	.|.	2.51|2.51	-4.18|-4.18	0.03846|0.03846	.|.	.|.	.|.	.|.	.|.	T|.	0.17195|.	0.0413|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	3|.	.|0.18710	.|T	.|0.47	.|.	3.6785|3.6785	0.08301|0.08301	0.2046:0.4366:0.0:0.3588|0.2046:0.4366:0.0:0.3588	.|.	.|.	.|.	.|.	L|X	569|574;574;292	.|.	.|ENSP00000221992:Q574X	P|Q	+|+	2|1	0|0	CEACAM5|CEACAM5	46915916|46915916	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-3.663000|-3.663000	0.00400|0.00400	-1.160000|-1.160000	0.02804|0.02804	0.460000|0.460000	0.39030|0.39030	CCA|CAG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	protein_coding	OTTHUMT00000321132.2	C	NM_004363	-		42224076	1	no_errors	ENST00000221992	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	42224076	C	T	42224076	4	4	214	1	0	0	0	0	0	1	0	0	3197	595	21	2	1746	2	CEACAM5	19	42224076	Nonsense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	27141482	42224076	16904907	70	17531											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47424830	47424830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcaccaccgaagaGgtgtttaactccccccgggc	11	15	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:47424830G>T	ENST00000404338.3	+	1	2898	c.2898G>T	c.(2896-2898)gaG>gaT	p.E966D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	966					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)										CCACCGAAGAGGTGTTTAACT	0.468																																																	0								ENSG00000160007						57	57	57					19																	47424830		1923	4129	6052	ARHGAP35	SO:0001583	missense	0			-	HGNC	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.2898G>T	19.37:g.47424830G>T	ENSP00000385720:p.Glu966Asp	Somatic	0	39	0		0.591229292315791	91	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E966D	ENST00000404338.3	37	c.2898	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	1.170	-0.641287	0.03557	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.06687	3.27	5.86	-0.628	0.11537	.	0.157011	0.64402	D	0.000018	T	0.03348	0.0097	N	0.08118	0	0.41139	D	0.985946	B	0.02656	0.0	B	0.11329	0.006	T	0.47114	-0.9142	10	0.10377	T	0.69	-38.1694	9.5372	0.39229	0.5345:0.0:0.4655:0.0	.	966	Q9NRY4-2	.	D	966	ENSP00000385720:E966D	ENSP00000324820:E966D	E	+	3	2	ARHGAP35	52116670	0.877000	0.30153	0.994000	0.49952	0.981000	0.71138	0.101000	0.15251	0.099000	0.17552	0.655000	0.94253	GAG	-	NULL		0.468	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	G	NM_004491	-		47424830	1	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	SNP	0.984	T	T	47424830	G	T	47424830	3	4	214	1	0	0	0	0	1	0	0	0	6797	991	35	3	2900	3	ARHGAP35	19	47424830	Missense_Mutation	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	5200754	47424830	11704153	71	17532											
CCDC155	147872	genome.wustl.edu	37	chr19	49910870	49910870	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctttcggctttcctagcGcactcgcgatgtggagagcc	13	12	0	1	rs535323954		TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:49910870G>A	ENST00000447857.3	+	12	1140	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	312						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CTTTCCTAGCGCACTCGCGAT	0.642													g|||	1	0.000199681	0	0	5008	,	,		13852	0		0	False		,,,				2504	0.001																0								ENSG00000161609						38	42	41					19																	49910870		1948	4139	6087	CCDC155	SO:0001630	splice_region_variant	0			-	HGNC		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.934-1G>A	19.37:g.49910870G>A		Somatic	0	112	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	118	32.18	Q96MC3	Missense_Mutation	SNP							NULL	p.R312H	ENST00000447857.3	37	c.935	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	g	18.09	3.545249	0.65198	.	.	ENSG00000161609	ENST00000447857	T	0.35789	1.29	4.83	4.83	0.62350	.	0.274240	0.30101	N	0.010402	T	0.59500	0.2198	M	0.75447	2.3	0.35404	D	0.791875	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69606	-0.5100	10	0.56958	D	0.05	-18.8095	14.1996	0.65693	0.0:0.0:1.0:0.0	.	312;312	C9JGW3;Q8N6L0	.;CC155_HUMAN	H	312	ENSP00000404220:R312H	ENSP00000404220:R312H	R	+	2	0	CCDC155	54602682	0.991000	0.36638	0.996000	0.52242	0.351000	0.29236	2.029000	0.41098	2.636000	0.89361	0.645000	0.84053	CGC	-	NULL		0.642	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	protein_coding	OTTHUMT00000465436.2	G	NM_144688	-	Missense_Mutation	49910870	1	no_errors	ENST00000447857	ensembl	human	known	74_37	missense	SNP	0.998	A	A	49910870	G	A	49910870	5	1	214	1	0	0	0	0	0	0	1	0	2790	1101	38	1	977	1	CCDC155	19	49910870	Splice_Site	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	2486040	49910870	9218113	72	17533											
SHANK1	50944	genome.wustl.edu	37	chr19	51191180	51191180	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagtggccgcaggagcacCtttcttgtgcactgcctcat	12	12	2	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chr19:51191180C>A	ENST00000293441.1	-	17	2326	c.2308G>T	c.(2308-2310)Gca>Tca	p.A770S	SHANK1_ENST00000391813.1_Splice_Site_p.A157S|SHANK1_ENST00000359082.3_Splice_Site_p.A761S|SHANK1_ENST00000391814.1_Splice_Site_p.A770S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	770					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)			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)		GCAGGAGCACCTTTCTTGTGC	0.642																																																	0								ENSG00000161681						139	93	109					19																	51191180		2203	4300	6503	SHANK1	SO:0001630	splice_region_variant	0			-	HGNC	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.2308+1G>T	19.37:g.51191180C>A		Somatic	0	42	0		0.591229292315791	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A770S	ENST00000293441.1	37	c.2308	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321610	0.41096	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.43688	1.04;1.43;0.96;0.94	3.66	3.66	0.41972	.	0.527728	0.16218	U	0.224146	T	0.57607	0.2065	M	0.68952	2.095	0.33597	D	0.601849	B;P	0.52692	0.192;0.955	B;P	0.58520	0.09;0.84	T	0.68788	-0.5316	9	.	.	.	-2.2426	14.6423	0.68734	0.0:1.0:0.0:0.0	.	770;157	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	S	770;157;761;770	ENSP00000293441:A770S;ENSP00000375689:A157S;ENSP00000351984:A761S;ENSP00000375690:A770S	.	A	-	1	0	SHANK1	55882992	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.510000	0.67018	2.074000	0.62210	0.289000	0.19496	GCA	-	NULL		0.642	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	C	NM_016148	-	Missense_Mutation	51191180	-1	no_errors	ENST00000391814	ensembl	human	known	74_37	missense	SNP	1.000	A	A	51191180	C	A	51191180	5	1	214	1	0	0	0	0	0	0	1	0	14272	695	24	3	4205	3	SHANK1	19	51191180	Splice_Site	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	1280310	51191180	7937803	73	17534											
KLF8	11279	genome.wustl.edu	37	chrX	56292123	56292123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcctgcagatgggggcCctgcagccattacagtccca	11	14	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chrX:56292123C>A	ENST00000468660.1	+	3	880	c.592C>A	c.(592-594)Cct>Act	p.P198T	KLF8_ENST00000374928.3_Missense_Mutation_p.P198T	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGATGGGGGCCCTGCAGCCAT	0.498																																																	0								ENSG00000102349						55	49	51					X																	56292123		2203	4300	6503	KLF8	SO:0001583	missense	0			-	HGNC	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.592C>A	X.37:g.56292123C>A	ENSP00000417303:p.Pro198Thr	Somatic	0	17	0		0.591229292315791	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	47	29.85	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P198T	ENST00000468660.1	37	c.592	CCDS14373.1	X	.	.	.	.	.	.	.	.	.	.	C	3.294	-0.144236	0.06627	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.25579	1.79;1.79	4.35	3.38	0.38709	.	0.246250	0.34338	N	0.004054	T	0.15955	0.0384	L	0.41079	1.255	0.31757	N	0.633807	P;B;B	0.37466	0.596;0.216;0.027	B;B;B	0.37989	0.262;0.085;0.006	T	0.08330	-1.0727	10	0.02654	T	1	.	7.9918	0.30246	0.3775:0.6225:0.0:0.0	.	198;198;198	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	T	198	ENSP00000364063:P198T;ENSP00000417303:P198T	ENSP00000431911:P198T	P	+	1	0	KLF8	56308848	0.978000	0.34361	0.997000	0.53966	0.984000	0.73092	2.250000	0.43178	2.088000	0.63022	0.600000	0.82982	CCT	-	NULL		0.498	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	protein_coding	OTTHUMT00000056887.2	C	NM_007250	-		56292123	1	no_errors	ENST00000468660	ensembl	human	known	74_37	missense	SNP	0.992	A	A	56292123	C	A	56292123	3	1	214	1	0	0	0	0	1	0	0	0	8354	623	22	3	602	3	KLF8	23	56292123	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09		56292123	98978437	74	17535											
MTMR8	55613	genome.wustl.edu	37	chrX	63563503	63563503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attattacctttgtaatgaaAattccagcatccataatagc	4	8	0	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chrX:63563503A>C	ENST00000374852.3	-	8	1030	c.963T>G	c.(961-963)atT>atG	p.I321M	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.I321M	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	321	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						TTGTAATGAAAATTCCAGCAT	0.348																																																	1	Whole gene deletion(1)	ovary(1)						ENSG00000102043						61	51	54					X																	63563503		2203	4299	6502	MTMR8	SO:0001583	missense	0			-	HGNC	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.963T>G	X.37:g.63563503A>C	ENSP00000363985:p.Ile321Met	Somatic	0	98	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	128	20.50	Q5JT99|Q9NXP6	Missense_Mutation	SNP							pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.I321M	ENST00000374852.3	37	c.963	CCDS14379.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.34|15.34	2.803252|2.803252	0.50315|0.50315	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000453546;ENST00000374852;ENST00000247400	.|D;D	.|0.90504	.|-2.68;-2.68	3.12|3.12	1.98|1.98	0.26296|0.26296	.|Myotubularin phosphatase domain (1);	.|0.149340	.|0.30630	.|U	.|0.009201	D|D	0.90314|0.90314	0.6970|0.6970	M|M	0.74647|0.74647	2.275|2.275	0.26616|0.26616	N|N	0.972746|0.972746	.|P;P	.|0.46706	.|0.879;0.883	.|B;P	.|0.50192	.|0.295;0.634	D|D	0.83673|0.83673	0.0167|0.0167	5|10	.|0.72032	.|D	.|0.01	.|.	4.991|4.991	0.14214|0.14214	0.7603:0.0:0.2397:0.0|0.7603:0.0:0.2397:0.0	.|.	.|321;321	.|B4DQL0;Q96EF0	.|.;MTMR8_HUMAN	V|M	125|321;321;207	.|ENSP00000394003:I321M;ENSP00000363985:I321M	.|ENSP00000247400:I207M	F|I	-|-	1|3	0|3	MTMR8|MTMR8	63480228|63480228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.269000|1.269000	0.33074|0.33074	1.283000|1.283000	0.44513|0.44513	0.417000|0.417000	0.27973|0.27973	TTT|ATT	-	smart_Tyr_Pase_cat		0.348	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	protein_coding	OTTHUMT00000056949.2	A	NM_017677	-		63563503	-1	no_errors	ENST00000374852	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63563503	A	C	63563503	3	2	214	1	0	0	0	0	1	0	0	0	9951	10	1	5	1179	5	MTMR8	23	63563503	Missense_Mutation	SNP	A	TCGA-SI-A71Q-01A-12D-A33E-09	7271380	63563503	91707057	75	17536											
NRK	203447	genome.wustl.edu	37	chrX	105153297	105153297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctggagcagaaccaggCacctgaacagccagaggtac	13	11	0	4			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chrX:105153297C>T	ENST00000243300.9	+	13	1967	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V	NRK_ENST00000428173.2_Missense_Mutation_p.A556V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	555	Gln-rich.				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)			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						CAGAACCAGGCACCTGAACAG	0.562										HNSCC(51;0.14)																																							0								ENSG00000123572						38	39	39					X																	105153297		2019	4161	6180	NRK	SO:0001583	missense	0			-	HGNC	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.1664C>T	X.37:g.105153297C>T	ENSP00000434830:p.Ala555Val	Somatic	0	19	0		0.591229292315791	66	1.49	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	26	50.00	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.A556V	ENST00000243300.9	37	c.1667		X	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.286823	0.00020	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.23552	1.9;1.9	4.38	-5.72	0.02406	.	0.966392	0.08488	N	0.938442	T	0.07863	0.0197	N	0.04090	-0.28	0.09310	N	0.999993	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.23119	-1.0197	10	0.30854	T	0.27	.	0.1017	0.00049	0.2971:0.2501:0.188:0.2648	.	223;555	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	V	555;556	ENSP00000434830:A555V;ENSP00000438378:A556V	ENSP00000434830:A555V	A	+	2	0	NRK	105039953	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.905000	0.00702	-2.086000	0.00863	-2.635000	0.00153	GCA	-	NULL		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	protein_coding	OTTHUMT00000106480.6	C	NM_198465	-		105153297	1	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	SNP	0.000	T	T	105153297	C	T	105153297	3	4	214	1	0	0	0	0	1	0	0	0	10657	710	25	2	1714	2	NRK	23	105153297	Missense_Mutation	SNP	C	TCGA-SI-A71Q-01A-12D-A33E-09	41589794	105153297	50117263	76	17537											
KCNE1L	23630	genome.wustl.edu	37	chrX	108868055	108868055	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggcgtagaagatcatgatGagcaggatgtagagataggc	15	5	1	5			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chrX:108868055G>T	ENST00000372101.2	-	1	338	c.195C>A	c.(193-195)ctC>ctA	p.L65L		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	65					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|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 transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGATCATGATGAGCAGGATGT	0.657																																																	0								ENSG00000176076						45	40	42					X																	108868055		2202	4300	6502	KCNE1L	SO:0001819	synonymous_variant	0			-	HGNC	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"Potassium channels"	6241	protein-coding gene	gene with protein product		300328	"potassium voltage-gated channel, Isk-related family, member 1-like"			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.195C>A	X.37:g.108868055G>T		Somatic	0	64	0		0.591229292315791	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.77		Silent	SNP							NULL	p.L65	ENST00000372101.2	37	c.195	CCDS14547.1	X																																																																																			-	NULL		0.657	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE1L	protein_coding	OTTHUMT00000057892.1	G	NM_012282	-		108868055	-1	no_errors	ENST00000372101	ensembl	human	known	74_37	silent	SNP	1.000	T	T	108868055	G	T	108868055	2	4	214	1	0	0	0	0	0	0	0	1	8024	1277	45	3		3	KCNE1L	23	108868055	Silent	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	3714758	108868055	46402505	77	17538											
GPR112	139378	genome.wustl.edu	37	chrX	135487944	135487944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccatgttctgcactgtTcttgttcaactgaattctgt	6	11	5	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chrX:135487944T>C	ENST00000394143.1	+	23	9039	c.8748T>C	c.(8746-8748)gtT>gtC	p.V2916V	GPR112_ENST00000412101.1_Silent_p.V2711V|GPR112_ENST00000394141.1_Silent_p.V2711V|GPR112_ENST00000370652.1_Silent_p.V2916V|GPR112_ENST00000287534.4_Silent_p.V2669V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2916					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)	p.V2916V(1)		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)					TCTGCACTGTTCTTGTTCAAC	0.403																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000156920						166	142	150					X																	135487944		2203	4300	6503	GPR112	SO:0001819	synonymous_variant	0			-	HGNC	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.8748T>C	X.37:g.135487944T>C		Somatic	0	49	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	65	27.78	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V2916	ENST00000394143.1	37	c.8748	CCDS35409.1	X																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	T		-		135487944	1	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	SNP	0.998	C	C	135487944	T	C	135487944	2	2	214	1	0	0	0	0	0	0	0	1	6631	1770	62	5		5	GPR112	23	135487944	Silent	SNP	T	TCGA-SI-A71Q-01A-12D-A33E-09	26619889	135487944	19782616	78	17539											
PLXNB3	5365	genome.wustl.edu	37	chrX	153043144	153043144	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatctggaagaccaacagGtgcctttcctgctgccccac	8	16	1	1			TCGA-SI-A71Q-01A-12D-A33E-09	TCGA-SI-A71Q-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289dd857-9301-4214-8ae5-3ae1f84be485	bbc63b41-0a71-4886-9194-ffdeae6bb13f	g.chrX:153043144G>T	ENST00000361971.5	+	31	5375		c.e31+1		SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000538966.1_Splice_Site	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGACCAACAGGTGCCTTTCCT	0.597																																																	0								ENSG00000198753						162	125	138					X																	153043144		2203	4300	6503	PLXNB3	SO:0001630	splice_region_variant	0			-	HGNC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5261+1G>T	X.37:g.153043144G>T		Somatic	0	76	0		0.591229292315791	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	B7Z3E6|F5H773|Q9HDA4	Splice_Site	SNP							-	e30+1	ENST00000361971.5	37	c.5330+1	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764672	0.31228	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000448847	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8103	0.78557	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNB3	152696338	1.000000	0.71417	0.989000	0.46669	0.235000	0.25334	9.731000	0.98807	2.065000	0.61736	0.529000	0.55759	.	-	-		0.597	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	protein_coding	OTTHUMT00000061063.1	G		-	Intron	153043144	1	no_errors	ENST00000538966	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	153043144	G	T	153043144	5	4	214	1	0	0	0	0	0	0	1	0	12127	1275	44	3	5498	3	PLXNB3	23	153043144	Splice_Site	SNP	G	TCGA-SI-A71Q-01A-12D-A33E-09	17555200	153043144	2227416	79	17540											
C1orf106	55765	genome.wustl.edu	37	chr1	200880698	200880698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccgcgaccaagcccccGctgccccacgccgcctgcca	8	23	0	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr1:200880698G>A	ENST00000367342.4	+	9	1532	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	C1orf106_ENST00000413687.2_Silent_p.P359P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	444										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCAAGCCCCCGCTGCCCCACG	0.687																																																	0								ENSG00000163362						74	87	83					1																	200880698		2203	4300	6503	C1orf106	SO:0001819	synonymous_variant	0			-	HGNC	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1332G>A	1.37:g.200880698G>A		Somatic	0	98	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	50	32.89	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP							pfam_DUF3338	p.P444	ENST00000367342.4	37	c.1332		1																																																																																			-	NULL		0.687	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	protein_coding	OTTHUMT00000087057.2	G	NM_018265	-		200880698	1	no_errors	ENST00000367342	ensembl	human	known	74_37	silent	SNP	0.687	A	A	200880698	G	A	200880698	2	1	215	1	0	0	0	0	0	0	0	1	1982	1074	38	1		1	C1orf106	1	200880698	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		200880698	48369923	1	17541											
ZP4	57829	genome.wustl.edu	37	chr1	238053862	238053862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacactggaataatctggtGcctcaggcttatgctggcca	11	11	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr1:238053862G>T	ENST00000366570.4	-	1	232	c.74C>A	c.(73-75)gCa>gAa	p.A25E	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	25					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATAATCTGGTGCCTCAGGCTT	0.532																																					NSCLC(166;160 2029 11600 18754 19936)												0								ENSG00000116996						58	55	56					1																	238053862		2203	4300	6503	ZP4	SO:0001583	missense	0			-	HGNC	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.74C>A	1.37:g.238053862G>T	ENSP00000355529:p.Ala25Glu	Somatic	0	34	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2RAE1	Missense_Mutation	SNP							pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A25E	ENST00000366570.4	37	c.74	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.099175	0.01843	.	.	ENSG00000116996	ENST00000366570	T	0.74737	-0.87	4.09	-1.55	0.08558	.	0.813731	0.10112	N	0.714619	T	0.54791	0.1880	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33266	-0.9875	10	0.11485	T	0.65	-2.0E-4	3.4304	0.07426	0.4246:0.0:0.3961:0.1793	.	25	Q12836	ZP4_HUMAN	E	25	ENSP00000355529:A25E	ENSP00000355529:A25E	A	-	2	0	ZP4	236120485	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.594000	0.05733	-0.073000	0.12842	0.563000	0.77884	GCA	-	NULL		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	protein_coding	OTTHUMT00000095476.1	G		-		238053862	-1	no_errors	ENST00000366570	ensembl	human	known	74_37	missense	SNP	0.000	T	T	238053862	G	T	238053862	3	4	215	1	0	0	0	0	1	0	0	0	18225	1319	46	3	1596	3	ZP4	1	238053862	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	37173164	238053862	11196759	2	17542											
OR2T1	26696	genome.wustl.edu	37	chr1	248569970	248569970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaattcccgggagattaaCcacttcttctgtgaggcacc	9	12	2	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr1:248569970C>A	ENST00000366474.1	+	1	675	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N225K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GGGAGATTAACCACTTCTTCT	0.512																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000175143						144	131	135					1																	248569970		2203	4300	6503	OR2T1	SO:0001583	missense	0			-	HGNC	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.675C>A	1.37:g.248569970C>A	ENSP00000355430:p.Asn225Lys	Somatic	0	44	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	5	88.10	Q6IEZ9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N225K	ENST00000366474.1	37	c.675	CCDS31115.1	1	.	.	.	.	.	.	.	.	.	.	c	15.68	2.905883	0.52333	.	.	ENSG00000175143	ENST00000366474	T	0.00115	8.71	4.75	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	U	0.001253	T	0.00271	0.0008	L	0.58428	1.81	0.09310	N	1	D	0.56746	0.977	P	0.62560	0.904	T	0.48725	-0.9010	10	0.72032	D	0.01	.	5.4531	0.16576	0.0:0.5441:0.1374:0.3185	.	225	O43869	OR2T1_HUMAN	K	225	ENSP00000355430:N225K	ENSP00000355430:N225K	N	+	3	2	OR2T1	246636593	0.004000	0.15560	0.213000	0.23690	0.856000	0.48823	-0.657000	0.05335	0.218000	0.20820	0.650000	0.86243	AAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	protein_coding	OTTHUMT00000097346.2	C		-		248569970	1	no_errors	ENST00000366474	ensembl	human	known	74_37	missense	SNP	0.054	A	A	248569970	C	A	248569970	3	1	215	1	0	0	0	0	1	0	0	0	11018	506	18	3	677	3	OR2T1	1	248569970	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	10516108	248569970	680651	3	17543											
CAPN7	23473	genome.wustl.edu	37	chr3	15253704	15253704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctggaaagagttcaaGctctacattcagcaggttag	10	7	4	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr3:15253704G>A	ENST00000253693.2	+	2	449	c.196G>A	c.(196-198)Gct>Act	p.A66T		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	66					positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AAGAGTTCAAGCTCTACATTC	0.363																																																	0								ENSG00000131375						76	77	76					3																	15253704		2203	4300	6503	CAPN7	SO:0001583	missense	0			-	HGNC	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.196G>A	3.37:g.15253704G>A	ENSP00000253693:p.Ala66Thr	Somatic	0	65	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	42	40.85		Missense_Mutation	SNP							pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	p.A66T	ENST00000253693.2	37	c.196	CCDS2624.1	3	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262019	0.23051	.	.	ENSG00000131375	ENST00000253693	T	0.69306	-0.39	5.49	5.49	0.81192	MIT (2);	0.115965	0.64402	D	0.000019	T	0.51398	0.1672	N	0.20986	0.625	0.51767	D	0.999934	B	0.14012	0.009	B	0.15052	0.012	T	0.51068	-0.8752	10	0.05351	T	0.99	-14.1306	18.9685	0.92706	0.0:0.0:1.0:0.0	.	66	Q9Y6W3	CAN7_HUMAN	T	66	ENSP00000253693:A66T	ENSP00000253693:A66T	A	+	1	0	CAPN7	15228708	1.000000	0.71417	0.996000	0.52242	0.805000	0.45488	6.713000	0.74686	2.591000	0.87537	0.555000	0.69702	GCT	-	pfam_MIT,smart_MIT		0.363	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	protein_coding	OTTHUMT00000252105.2	G	NM_014296	-		15253704	1	no_errors	ENST00000253693	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15253704	G	A	15253704	3	1	215	1	0	0	0	0	1	0	0	0	2633	971	34	2	202	2	CAPN7	3	15253704	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		15253704	182768726	4	17544											
SATB1	6304	genome.wustl.edu	37	chr3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-													ggctgtggaggcggcggtgcCtgctgctgctgctgctgctg							TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606																																																	0								ENSG00000182568		,,	7,190,3727		2,0,3,5,180,1772					,,	-1.4	0			13	18,388,7346		2,0,14,7,374,3479	no	codingComplex,codingComplex,codingComplex	SATB1	NM_002971.4,NM_001195470.1,NM_001131010.2	,,	4,0,17,12,554,5251	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2374,5.0204,5.1644	,,	,,		25,578,11073				SATB1	SO:0001651	inframe_deletion	0				HGNC		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1819_1821delCAG	3.37:g.18391142_18391144delCTG	ENSP00000341024:p.Gln607del	Somatic	0	42	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.Q639in_frame_del	ENST00000338745.6	37	c.1917_1915	CCDS2631.1	3																																																																																			-	NULL		0.606	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	CTG	NM_001131010			18391135	-1	no_errors	ENST00000417717	ensembl	human	known	74_37	in_frame_del	DEL	0.002:0.133:0.926	-	-	18391135	CTG	-	18391133	7	5	215	1	0	1	0	1	0	0	0	0	13861	680	24	0	474	0	SATB1	3	18391133	In_Frame_Del	DEL	CTG	TCGA-SI-AA8B-01A-11D-A387-09	3137429	18391133	179631297	5	17545											
BAP1	8314	genome.wustl.edu	37	chr3	52438591	52438591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccacacctgccgccagGtcttcttcctcctgggacaa	9	18	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr3:52438591G>A	ENST00000460680.1	-	12	1599	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	BAP1_ENST00000296288.5_Silent_p.D358D	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCGCCAGGTCTTCTTCCT	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0								ENSG00000163930						43	38	39					3																	52438591		2203	4300	6503	BAP1	SO:0001819	synonymous_variant	0			-	HGNC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1128C>T	3.37:g.52438591G>A		Somatic	0	52	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP							pfam_Peptidase_C12,prints_Peptidase_C12	p.D376	ENST00000460680.1	37	c.1128	CCDS2853.1	3																																																																																			-	NULL		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	protein_coding	OTTHUMT00000350895.1	G		-		52438591	-1	no_errors	ENST00000460680	ensembl	human	known	74_37	silent	SNP	1.000	A	A	52438591	G	A	52438591	2	1	215	1	0	0	0	0	0	0	0	1	1311	1252	44	2		2	BAP1	3	52438591	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	34047458	52438591	145583839	6	17546											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55107538	55107538	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtggtggacagcagctgcctCtgtgaatctgtggcccccat	13	12	2	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr3:55107538C>G	ENST00000474759.1	+	36	3102	c.3054C>G	c.(3052-3054)ctC>ctG	p.L1018L	CACNA2D3_ENST00000490478.1_Silent_p.L924L|CACNA2D3_ENST00000478261.1_Intron|CACNA2D3_ENST00000288197.5_Silent_p.L1018L|CACNA2D3_ENST00000415676.2_Silent_p.L1018L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1018						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)	GCAGCTGCCTCTGTGAATCTG	0.512																																																	0								ENSG00000157445						87	89	88					3																	55107538		2035	4185	6220	CACNA2D3	SO:0001819	synonymous_variant	0			-	HGNC	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.3054C>G	3.37:g.55107538C>G		Somatic	0	89	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	71	45.38	B2RPL6|Q9NY16|Q9NY18	Silent	SNP							pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L1018	ENST00000474759.1	37	c.3054	CCDS54598.1	3																																																																																			-	NULL		0.512	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	C		-		55107538	1	no_errors	ENST00000288197	ensembl	human	known	74_37	silent	SNP	1.000	G	G	55107538	C	G	55107538	2	3	215	1	0	0	0	0	0	0	0	1	2552	900	32	4		4	CACNA2D3	3	55107538	Silent	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	2668947	55107538	142914892	7	17547											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125877353	125877353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggggatgaattggctgCagaagggcaggacgttgagc	17	7	0	3			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr3:125877353C>A	ENST00000393434.2	-	3	606	c.257G>T	c.(256-258)tGc>tTc	p.C86F	ALDH1L1_ENST00000413612.1_5'Flank|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.C86F|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.C86F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.C96F|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.C86F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	86	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GAATTGGCTGCAGAAGGGCAG	0.587																																																	0								ENSG00000144908						85	76	79					3																	125877353		2203	4300	6503	ALDH1L1	SO:0001583	missense	0			-	HGNC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.257G>T	3.37:g.125877353C>A	ENSP00000377083:p.Cys86Phe	Somatic	0	64	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.29	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.C86F	ENST00000393434.2	37	c.257	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673835	0.67928	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356;ENST00000509952	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.84	4.84	0.62591	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	N	0.25426	0.745	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.79004	-0.1980	10	0.87932	D	0	.	15.4491	0.75259	0.0:1.0:0.0:0.0	.	86;138;86	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	F	96;86;86;86;86;86;86;86;86	ENSP00000273450:C96F;ENSP00000420293:C86F;ENSP00000395881:C86F;ENSP00000377083:C86F;ENSP00000377081:C86F;ENSP00000418711:C86F;ENSP00000419826:C86F;ENSP00000419955:C86F;ENSP00000426594:C86F	ENSP00000273450:C96F	C	-	2	0	ALDH1L1	127360043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.441000	0.80485	2.525000	0.85131	0.491000	0.48974	TGC	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH		0.587	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	protein_coding	OTTHUMT00000354391.1	C	NM_012190	-		125877353	-1	no_errors	ENST00000393434	ensembl	human	known	74_37	missense	SNP	1.000	A	A	125877353	C	A	125877353	3	1	215	1	0	0	0	0	1	0	0	0	494	710	25	3	2535	3	ALDH1L1	3	125877353	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	70769815	125877353	72145077	8	17548											
WHSC1	7468	genome.wustl.edu	37	chr4	1918632	1918632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgccagtatcacgtacaGttctttggtgacgccccaga	10	13	2	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr4:1918632G>A	ENST00000382895.3	+	6	1226	c.795G>A	c.(793-795)caG>caA	p.Q265Q	WHSC1_ENST00000420906.2_Silent_p.Q265Q|WHSC1_ENST00000382891.5_Silent_p.Q265Q|WHSC1_ENST00000398261.1_Silent_p.Q265Q|WHSC1_ENST00000503128.1_Silent_p.Q265Q|WHSC1_ENST00000508803.1_Silent_p.Q265Q|WHSC1_ENST00000514045.1_Silent_p.Q265Q|WHSC1_ENST00000382892.2_Silent_p.Q265Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	265	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATCACGTACAGTTCTTTGGTG	0.393			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0								ENSG00000109685						86	91	89					4																	1918632		2203	4300	6503	WHSC1	SO:0001819	synonymous_variant	0			-	HGNC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.795G>A	4.37:g.1918632G>A		Somatic	0	80	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	50	55.36	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.Q265	ENST00000382895.3	37	c.795	CCDS33940.1	4																																																																																			-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.393	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	protein_coding	OTTHUMT00000366269.2	G	NM_133330	-		1918632	1	no_errors	ENST00000382891	ensembl	human	known	74_37	silent	SNP	1.000	A	A	1918632	G	A	1918632	2	1	215	1	0	0	0	0	0	0	0	1	17369	1020	36	2		2	WHSC1	4	1918632	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		1918632	189235644	9	17549											
SLIT2	9353	genome.wustl.edu	37	chr4	20530661	20530661	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtgaaggaaccacagtaGattgctctaatcaaaagctc	9	9	2	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr4:20530661G>T	ENST00000504154.1	+	16	1804	c.1552G>T	c.(1552-1554)Gat>Tat	p.D518Y	SLIT2_ENST00000503837.1_Missense_Mutation_p.D514Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D522Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.D510Y|MIR218-1_ENST00000384999.1_RNA	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	518	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AACCACAGTAGATTGCTCTAA	0.443																																																	0								ENSG00000145147						125	124	124					4																	20530661		2203	4300	6503	SLIT2	SO:0001583	missense	0			-	HGNC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1552G>T	4.37:g.20530661G>T	ENSP00000422591:p.Asp518Tyr	Somatic	0	50	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	74	9.76	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.D518Y	ENST00000504154.1	37	c.1552	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083795	0.76642	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.87578	0.716;0.998	D	0.98206	1.0470	10	0.66056	D	0.02	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	510;518	O94813-3;O94813	.;SLIT2_HUMAN	Y	510;518;522;514;514	ENSP00000427548:D510Y;ENSP00000422591:D518Y;ENSP00000273739:D522Y;ENSP00000422261:D514Y	ENSP00000273739:D522Y	D	+	1	0	SLIT2	20139759	1.000000	0.71417	0.928000	0.36995	0.873000	0.50193	9.467000	0.97671	2.798000	0.96311	0.655000	0.94253	GAT	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	G		-		20530661	1	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20530661	G	T	20530661	3	4	215	1	0	0	0	0	1	0	0	0	14748	942	33	3	1614	3	SLIT2	4	20530661	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	18612029	20530661	170623615	10	17550											
LIAS	6133	genome.wustl.edu	37	chr4	39462463	39462464	+	5'Flank	INS	-	-	A													cgttaagctccttgccagatINSaaaaaaaaggaactcctaca							TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr4:39462463_39462464insA	ENST00000449470.2	-	0	0				LIAS_ENST00000381846.1_Frame_Shift_Ins_p.K34fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000261434.3_Frame_Shift_Ins_p.K34fs|LIAS_ENST00000513731.1_Frame_Shift_Ins_p.K34fs|LIAS_ENST00000340169.2_Frame_Shift_Ins_p.K34fs|RPL9_ENST00000295955.9_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						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.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CCTTGCCAGATAAAAAAAAGGA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)						ENSG00000121897																																			LIAS	SO:0001631	upstream_gene_variant	0				HGNC	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		4.37:g.39462471_39462471dupA	Exception_encountered	Somatic	0	34	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80		Frame_Shift_Ins	INS							pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	p.E36fs	ENST00000449470.2	37	c.99_100	CCDS3452.1	4																																																																																			-	pirsf_Lipoyl_synth		0.391	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIAS	protein_coding	OTTHUMT00000361018.1	-				39462464	1	no_errors	ENST00000261434	ensembl	human	known	74_37	frame_shift_ins	INS	0.695:0.641	A	A	39462464	-	A	39462463	6	5	215	0	1	1	1	0	0	0	0	0	8780	1403	49	0		0	LIAS	4	39462463	5'Flank	INS	-	TCGA-SI-AA8B-01A-11D-A387-09	18931802	39462463	151691813	11	17551											
SLAIN2	57606	genome.wustl.edu	37	chr4	48380035	48380035	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatcctcaaccccagtgCgacctcctatagtcaaacag	5	17	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr4:48380035C>T	ENST00000264313.6	+	3	1079	c.661C>T	c.(661-663)Cga>Tga	p.R221*	SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.R28*|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	221					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AACCCCAGTGCGACCTCCTAT	0.408																																																	0								ENSG00000109171						121	120	120					4																	48380035		1884	4110	5994	SLAIN2	SO:0001587	stop_gained	0			-	HGNC	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.661C>T	4.37:g.48380035C>T	ENSP00000264313:p.Arg221*	Somatic	0	68	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.29	A8K4P1|Q8N5R3	Nonsense_Mutation	SNP							NULL	p.R221*	ENST00000264313.6	37	c.661	CCDS47051.1	4	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062404	0.76187	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.96	4.01	0.46588	.	0.123592	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-6.4436	12.3262	0.55011	0.5695:0.4305:0.0:0.0	.	.	.	.	X	221;28	.	ENSP00000264313:R221X	R	+	1	2	SLAIN2	48074792	1.000000	0.71417	0.997000	0.53966	0.385000	0.30292	2.594000	0.46189	1.462000	0.47948	0.655000	0.94253	CGA	-	NULL		0.408	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	protein_coding	OTTHUMT00000365807.4	C	NM_020846	-		48380035	1	no_errors	ENST00000264313	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48380035	C	T	48380035	4	4	215	1	0	0	0	0	0	1	0	0	14374	760	27	1	671	1	SLAIN2	4	48380035	Nonsense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	8917572	48380035	142774241	12	17552											
GRM6	2916	genome.wustl.edu	37	chr5	178413971	178413971	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgttgaacatcacaggGgttcctgcgctgcctggaga	12	11	2	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr5:178413971G>T	ENST00000517717.1	-	8	1406	c.1368C>A	c.(1366-1368)acC>acA	p.T456T	GRM6_ENST00000231188.5_Silent_p.T456T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	456					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|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)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		ACATCACAGGGGTTCCTGCGC	0.647																																																	0								ENSG00000113262						63	55	57					5																	178413971		2203	4300	6503	GRM6	SO:0001819	synonymous_variant	0			-	HGNC	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1368C>A	5.37:g.178413971G>T		Somatic	0	42	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43		Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.T456	ENST00000517717.1	37	c.1368	CCDS4442.1	5																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	protein_coding	OTTHUMT00000253474.2	G		-		178413971	-1	no_errors	ENST00000231188	ensembl	human	known	74_37	silent	SNP	1.000	T	T	178413971	G	T	178413971	2	4	215	1	0	0	0	0	0	0	0	1	6803	1219	43	3		3	GRM6	5	178413971	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		178413971	2501289	13	17553											
SCAND3	114821	genome.wustl.edu	37	chr6	28540109	28540109	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aataaaattcaaaacattctAacaaatttgtaagatgttca	3	5	3	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr6:28540109A>T	ENST00000452236.2	-	4	4174	c.3557T>A	c.(3556-3558)tTa>tAa	p.L1186*		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						aaaacattctaacaaatttgt	0.279																																																	0								ENSG00000232040						28	27	27					6																	28540109		2196	4283	6479	SCAND3	SO:0001587	stop_gained	0			-	HGNC																												ENST00000452236.2:c.3557T>A	6.37:g.28540109A>T	ENSP00000395259:p.Leu1186*	Somatic	0	91	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	53	30.26		Nonsense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.L1186*	ENST00000452236.2	37	c.3557	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	A	44	11.073195	0.99511	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.53	1.35	0.21983	.	0.418923	0.16610	U	0.206938	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	4.3809	0.11293	0.8374:0.0:0.1626:0.0	.	.	.	.	X	1186	.	ENSP00000395259:L1186X	L	-	2	0	SCAND3	28648088	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	1.021000	0.30040	0.391000	0.25143	0.533000	0.62120	TTA	-	superfamily_RNaseH-like_dom		0.279	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	A		-		28540109	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	nonsense	SNP	0.992	T	T	28540109	A	T	28540109	4	4	215	1	0	0	0	0	0	1	0	0	13884	372	13	5	424	5	SCAND3	6	28540109	Nonsense_Mutation	SNP	A	TCGA-SI-AA8B-01A-11D-A387-09		28540109	142574958	14	17554											
C6orf142	90523	genome.wustl.edu	37	chr6	53986311	53986311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccactgtcagaagactaCcaacccatactcagttggct	6	15	2	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr6:53986311C>A	ENST00000274897.5	+	2	243	c.130C>A	c.(130-132)Cca>Aca	p.P44T	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Missense_Mutation_p.P38T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000514921.1_Missense_Mutation_p.P44T|MLIP_ENST00000502396.1_Missense_Mutation_p.P55T	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	44						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAGAAGACTACCAACCCATAC	0.408																																																	0								ENSG00000146147						128	124	126					6																	53986311		2203	4300	6503	MLIP	SO:0001583	missense	0			-	HGNC	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.130C>A	6.37:g.53986311C>A	ENSP00000274897:p.Pro44Thr	Somatic	0	53	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	68	16.05	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP							NULL	p.P44T	ENST00000274897.5	37	c.130	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927572	0.73327	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T	0.61859	0.88;0.17;0.23;0.07;0.51	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000026	T	0.66406	0.2786	M	0.64997	1.995	0.31866	N	0.620329	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.976;0.999	T	0.68205	-0.5470	10	0.87932	D	0	-6.1984	14.626	0.68621	0.0:1.0:0.0:0.0	.	55;44;44	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	T	44;44;55;38;45	ENSP00000274897:P44T;ENSP00000425142:P44T;ENSP00000426290:P55T;ENSP00000351019:P38T;ENSP00000421444:P45T	ENSP00000274897:P44T	P	+	1	0	MLIP	54094270	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.199000	0.58426	2.599000	0.87857	0.655000	0.94253	CCA	-	NULL		0.408	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	protein_coding	OTTHUMT00000040979.3	C	NM_138569	-		53986311	1	no_errors	ENST00000274897	ensembl	human	known	74_37	missense	SNP	1.000	A	A	53986311	C	A	53986311	3	1	215	1	0	0	0	0	1	0	0	0	2335	507	18	3	136	3	C6orf142	6	53986311	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	25446202	53986311	117128756	15	17555											
ETV1	2115	genome.wustl.edu	37	chr7	13971306	13971306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggcgttggtacataggaCgtccttcccttggcatcgtc	11	12	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr7:13971306C>A	ENST00000430479.1	-	9	1290	c.623G>T	c.(622-624)cGt>cTt	p.R208L	ETV1_ENST00000242066.5_Missense_Mutation_p.R190L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Missense_Mutation_p.R208L|ETV1_ENST00000403685.1_Missense_Mutation_p.R190L|ETV1_ENST00000403527.1_Missense_Mutation_p.R168L|ETV1_ENST00000420159.2_Missense_Mutation_p.R150L|ETV1_ENST00000405358.4_Missense_Mutation_p.R222L|ETV1_ENST00000343495.5_Missense_Mutation_p.R190L|ETV1_ENST00000405218.2_Missense_Mutation_p.R208L|ETV1_ENST00000399357.3_Missense_Mutation_p.R105L	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	208					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTACATAGGACGTCCTTCCCT	0.502			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																			Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0								ENSG00000006468						137	134	135					7																	13971306		2044	4191	6235	ETV1	SO:0001583	missense	0			-	HGNC		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.623G>T	7.37:g.13971306C>A	ENSP00000405327:p.Arg208Leu	Somatic	0	90	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	183	18.58	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP							pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R208L	ENST00000430479.1	37	c.623	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.168572	0.94768	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	L	0.47716	1.5	0.53688	D	0.999973	D;D;P;P;D;D;D;P	0.89917	0.982;1.0;0.82;0.891;0.997;0.998;0.966;0.898	P;D;B;P;D;D;P;P	0.85130	0.81;0.985;0.385;0.457;0.997;0.992;0.737;0.796	T	0.02983	-1.1086	10	0.27082	T	0.32	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	219;190;222;150;105;168;150;208	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	L	208;190;190;150;105;208;222;168;208;190;150;105	ENSP00000405327:R208L;ENSP00000242066:R190L;ENSP00000340853:R190L;ENSP00000411626:R150L;ENSP00000382293:R105L;ENSP00000385381:R208L;ENSP00000384085:R222L;ENSP00000384138:R168L;ENSP00000385551:R208L;ENSP00000385686:R190L;ENSP00000393078:R150L;ENSP00000394710:R105L	ENSP00000242066:R190L	R	-	2	0	ETV1	13937831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	CGT	-	pfam_ETS_PEA3_N		0.502	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	protein_coding	OTTHUMT00000326111.1	C	NM_004956	-		13971306	-1	no_errors	ENST00000405218	ensembl	human	known	74_37	missense	SNP	1.000	A	A	13971306	C	A	13971306	3	1	215	1	0	0	0	0	1	0	0	0	5279	536	19	3	834	3	ETV1	7	13971306	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09		13971306	145167357	16	17556											
PIWIL2	55124	genome.wustl.edu	37	chr8	22138936	22138936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctaatctggtacgcaaGgacagggaggaactctctcc	11	11	3	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr8:22138936G>A	ENST00000454009.2	+	4	842	c.333G>A	c.(331-333)aaG>aaA	p.K111K	PIWIL2_ENST00000521356.1_Silent_p.K111K|PIWIL2_ENST00000356766.6_Silent_p.K111K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	111					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGTACGCAAGGACAGGGAGG	0.493																																																	0								ENSG00000197181						154	153	154					8																	22138936		2203	4300	6503	PIWIL2	SO:0001819	synonymous_variant	0			-	HGNC	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.333G>A	8.37:g.22138936G>A		Somatic	0	65	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	78	18.75	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP							pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.K111	ENST00000454009.2	37	c.333	CCDS6029.1	8																																																																																			-	NULL		0.493	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	protein_coding	OTTHUMT00000375438.1	G		-		22138936	1	no_errors	ENST00000356766	ensembl	human	known	74_37	silent	SNP	0.984	A	A	22138936	G	A	22138936	2	1	215	1	0	0	0	0	0	0	0	1	11960	991	35	2		2	PIWIL2	8	22138936	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		22138936	124225086	17	17557											
OPRK1	4986	genome.wustl.edu	37	chr8	54163589	54163589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggaagatctggatcggGgagtccatggtggggcgatt	18	8	1	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr8:54163589G>A	ENST00000265572.3	-	2	306	c.9C>T	c.(7-9)tcC>tcT	p.S3S	OPRK1_ENST00000520287.1_Silent_p.S3S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	3					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCTGGATCGGGGAGTCCATGG	0.711																																																	0								ENSG00000082556						6	9	8					8																	54163589		1954	4010	5964	OPRK1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.9C>T	8.37:g.54163589G>A		Somatic	0	29	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	48.08	E5RHC9|Q499G4	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S3	ENST00000265572.3	37	c.9	CCDS6152.1	8																																																																																			-	NULL		0.711	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	protein_coding	OTTHUMT00000378048.1	G		-		54163589	-1	no_errors	ENST00000265572	ensembl	human	known	74_37	silent	SNP	0.999	A	A	54163589	G	A	54163589	2	1	215	1	0	0	0	0	0	0	0	1	10887	1219	43	2		2	OPRK1	8	54163589	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	32024653	54163589	92200433	18	17558											
C9orf93	203238	genome.wustl.edu	37	chr9	15744289	15744290	+	Frame_Shift_Ins	INS	-	-	A													gaaatttcaagaaattgctgINSaaaaaaacatggaaaaattg					rs35013909	byFrequency	TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr9:15744289_15744290insA	ENST00000380701.3	+	17	2396_2397	c.2068_2069insA	c.(2068-2070)gaafs	p.E690fs	CCDC171_ENST00000297641.3_Frame_Shift_Ins_p.E690fs	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	690																	AGAAATTGCTGAAAAAAACATG	0.297																																																	0								ENSG00000164989																																			CCDC171	SO:0001589	frameshift_variant	0				HGNC	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.2075dupA	9.37:g.15744296_15744296dupA	ENSP00000370077:p.Glu690fs	Somatic	0	64	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Frame_Shift_Ins	INS							superfamily_STAT_TF_coiled-coil	p.N692fs	ENST00000380701.3	37	c.2068_2069	CCDS6481.1	9																																																																																			-	superfamily_STAT_TF_coiled-coil		0.297	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	protein_coding	OTTHUMT00000051768.4	-	NM_173550			15744290	1	no_errors	ENST00000380701	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	15744290	-	A	15744289	7	5	215	1	0	1	1	0	0	0	0	0	2508	1291	45	0	2130	0	C9orf93	9	15744289	Frame_Shift_Ins	INS	-	TCGA-SI-AA8B-01A-11D-A387-09		15744289	125469142	19	17559											
TMEM8C	389827	genome.wustl.edu	37	chr9	136384035	136384035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatggctgtgccgatgggGcccgagtacaccccgtagcc	15	13	0	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr9:136384035G>A	ENST00000339996.3	-	3	461	c.360C>T	c.(358-360)ggC>ggT	p.G120G	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	120					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TGCCGATGGGGCCCGAGTACA	0.612																																																	0								ENSG00000187616						97	84	89					9																	136384035		2203	4300	6503	TMEM8C	SO:0001819	synonymous_variant	0			-	HGNC	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.360C>T	9.37:g.136384035G>A		Somatic	0	60	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	44	32.31		Silent	SNP							pfam_DUF3522	p.G120	ENST00000339996.3	37	c.360	CCDS35170.1	9																																																																																			-	pfam_DUF3522		0.612	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	protein_coding	OTTHUMT00000356200.2	G	NM_001080483	-		136384035	-1	no_errors	ENST00000339996	ensembl	human	known	74_37	silent	SNP	0.983	A	A	136384035	G	A	136384035	2	1	215	1	0	0	0	0	0	0	0	1	16223	1190	42	2		2	TMEM8C	9	136384035	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	120639746	136384035	4829396	20	17560											
PRKCQ	5588	genome.wustl.edu	37	chr10	6553127	6553127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgggtacatggtagGctttttctggatatacatct	12	7	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr10:6553127G>T	ENST00000263125.5	-	3	247	c.148C>A	c.(148-150)Cct>Act	p.P50T	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Missense_Mutation_p.P50T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	50	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TACATGGTAGGCTTTTTCTGG	0.448																																					Ovarian(50;572 1126 10530 25349 30594)												0								ENSG00000065675						159	140	146					10																	6553127		2203	4300	6503	PRKCQ	SO:0001583	missense	0			-	HGNC	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.148C>A	10.37:g.6553127G>T	ENSP00000263125:p.Pro50Thr	Somatic	0	44	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P50T	ENST00000263125.5	37	c.148	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734439	0.89482	.	.	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.68025	-0.3;-0.26	5.33	5.33	0.75918	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.82309	-0.0521	10	0.49607	T	0.09	.	19.4129	0.94683	0.0:0.0:1.0:0.0	.	50;50	Q04759-2;Q04759	.;KPCT_HUMAN	T	50	ENSP00000263125:P50T;ENSP00000380361:P50T	ENSP00000263125:P50T	P	-	1	0	PRKCQ	6593133	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.562000	0.98145	2.652000	0.90054	0.655000	0.94253	CCT	-	superfamily_C2_dom,pirsf_Prot_kin_PKC_delta		0.448	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	protein_coding	OTTHUMT00000046665.1	G	NM_006257	-		6553127	-1	no_errors	ENST00000263125	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6553127	G	T	6553127	3	4	215	1	0	0	0	0	1	0	0	0	12520	1203	42	3	2036	3	PRKCQ	10	6553127	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		6553127	128981620	21	17561											
SGPL1	8879	genome.wustl.edu	37	chr10	72619225	72619225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggatagcttgttcccTgttcaatgggggaccagatt	13	8	1	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr10:72619225T>C	ENST00000373202.3	+	7	784	c.584T>C	c.(583-585)cTg>cCg	p.L195P		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	195					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCTTGTTCCCTGTTCAATGGG	0.418																																					Colon(151;1054 2458 6676 40971)												0								ENSG00000166224						114	100	105					10																	72619225		2203	4300	6503	SGPL1	SO:0001583	missense	0			-	HGNC	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.584T>C	10.37:g.72619225T>C	ENSP00000362298:p.Leu195Pro	Somatic	0	153	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	62	41.51	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.L195P	ENST00000373202.3	37	c.584	CCDS31216.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.545706|4.545706	0.86022|0.86022	.|.	.|.	ENSG00000166224|ENSG00000166224	ENST00000409118|ENST00000373202;ENST00000299297	.|T;T	.|0.63580	.|0.22;-0.05	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85613|0.85613	0.5737|0.5737	H|H	0.96142|0.96142	3.775|3.775	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.90257|0.90257	0.4298|0.4298	5|10	.|0.87932	.|D	.|0	-8.3496|-8.3496	15.3946|15.3946	0.74781|0.74781	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|195	.|O95470	.|SGPL1_HUMAN	R|P	109|195;178	.|ENSP00000362298:L195P;ENSP00000299297:L178P	.|ENSP00000299297:L178P	C|L	+|+	1|2	0|0	SGPL1|SGPL1	72289231|72289231	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.975000|0.975000	0.68041|0.68041	7.305000|7.305000	0.78891|0.78891	2.113000|2.113000	0.64589|0.64589	0.533000|0.533000	0.62120|0.62120	TGT|CTG	-	superfamily_PyrdxlP-dep_Trfase		0.418	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	protein_coding	OTTHUMT00000048533.1	T	NM_003901	-		72619225	1	no_errors	ENST00000373202	ensembl	human	known	74_37	missense	SNP	1.000	C	C	72619225	T	C	72619225	3	2	215	1	0	0	0	0	1	0	0	0	14226	1580	55	5	606	5	SGPL1	10	72619225	Missense_Mutation	SNP	T	TCGA-SI-AA8B-01A-11D-A387-09	66066098	72619225	62915522	22	17562											
IFIT5	24138	genome.wustl.edu	37	chr10	91177561	91177561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaagagcttttctctggGgcctttgagaaaggctgtta	12	6	1	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr10:91177561G>T	ENST00000371795.4	+	2	818	c.605G>T	c.(604-606)gGg>gTg	p.G202V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	202					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TTTTCTCTGGGGCCTTTGAGA	0.448																																																	0								ENSG00000152778						72	77	75					10																	91177561		2203	4300	6503	IFIT5	SO:0001583	missense	0			-	HGNC	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.605G>T	10.37:g.91177561G>T	ENSP00000360860:p.Gly202Val	Somatic	0	52	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP							pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G202V	ENST00000371795.4	37	c.605	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618329	0.28801	.	.	ENSG00000152778	ENST00000371795	T	0.47869	0.83	6.03	3.14	0.36123	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.295210	0.36665	N	0.002465	T	0.20170	0.0485	N	0.08118	0	0.49389	D	0.999781	P	0.38335	0.627	B	0.29663	0.105	T	0.04607	-1.0939	10	0.40728	T	0.16	-7.7837	6.3862	0.21561	0.3802:0.0:0.6198:0.0	.	202	Q13325	IFIT5_HUMAN	V	202	ENSP00000360860:G202V	ENSP00000360860:G202V	G	+	2	0	IFIT5	91167541	0.348000	0.24861	0.998000	0.56505	0.996000	0.88848	2.309000	0.43699	1.529000	0.49120	0.655000	0.94253	GGG	-	pfscan_TPR-contain_dom		0.448	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	protein_coding	OTTHUMT00000049303.1	G	NM_012420	-		91177561	1	no_errors	ENST00000371795	ensembl	human	known	74_37	missense	SNP	0.657	T	T	91177561	G	T	91177561	3	4	215	1	0	0	0	0	1	0	0	0	7527	1232	43	3	611	3	IFIT5	10	91177561	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	18558336	91177561	44357186	23	17563											
GBF1	8729	genome.wustl.edu	37	chr10	104117849	104117849	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaaatggaagaaacagaaGagatcccctcggcccccacg	9	14	0	3			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr10:104117849G>T	ENST00000369983.3	+	9	953	c.693G>T	c.(691-693)aaG>aaT	p.K231N		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	231					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAAACAGAAGAGATCCCCTC	0.478																																																	0								ENSG00000107862						166	166	166					10																	104117849		2203	4300	6503	GBF1	SO:0001583	missense	0			-	HGNC	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.693G>T	10.37:g.104117849G>T	ENSP00000359000:p.Lys231Asn	Somatic	0	72	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP							pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.K231N	ENST00000369983.3	37	c.693	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711323	0.48517	.	.	ENSG00000107862	ENST00000369983	T	0.10573	2.86	5.92	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.66939	2.045	0.58432	D	0.999998	P;B;P;D	0.56035	0.509;0.322;0.956;0.974	B;B;B;P	0.51415	0.064;0.029;0.366;0.669	T	0.05599	-1.0875	10	0.16420	T	0.52	-20.9727	12.9667	0.58488	0.1328:0.0:0.8672:0.0	.	231;231;231;231	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	N	231	ENSP00000359000:K231N	ENSP00000359000:K231N	K	+	3	2	GBF1	104107839	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	1.427000	0.34881	0.816000	0.34421	0.555000	0.69702	AAG	-	superfamily_ARM-type_fold		0.478	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	protein_coding	OTTHUMT00000050051.1	G		-		104117849	1	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104117849	G	T	104117849	3	4	215	1	0	0	0	0	1	0	0	0	6273	933	33	3	723	3	GBF1	10	104117849	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	12940288	104117849	31416898	24	17564											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135094822	135094822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagtcactggtgctaTagatgctcagccgggccagg	13	12	3	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr10:135094822T>C	ENST00000252936.3	-	16	2567	c.2528A>G	c.(2527-2529)tAt>tGt	p.Y843C	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y713C|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.Y843C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y436C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y871C			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	843					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACTGGTGCTATAGATGCTCAG	0.632																																																	0								ENSG00000130640						98	84	88					10																	135094822		2203	4300	6503	TUBGCP2	SO:0001583	missense	0			-	HGNC	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2528A>G	10.37:g.135094822T>C	ENSP00000252936:p.Tyr843Cys	Somatic	0	76	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.30	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP							pfam_TUBGCP,superfamily_Ocr	p.Y871C	ENST00000252936.3	37	c.2612	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697961	0.48307	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.33865	2.38;2.13;2.38;1.39;2.41	4.49	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.65975	2.015	0.58432	D	0.999995	B;B;P	0.47762	0.03;0.018;0.9	B;B;P	0.48227	0.072;0.033;0.571	T	0.29119	-1.0022	10	0.38643	T	0.18	-20.1466	9.9607	0.41695	0.1522:0.0:0.0:0.8478	.	871;871;843	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	C	843;713;843;436;871	ENSP00000252936:Y843C;ENSP00000395666:Y713C;ENSP00000357551:Y843C;ENSP00000357550:Y436C;ENSP00000446093:Y871C	ENSP00000252936:Y843C	Y	-	2	0	TUBGCP2	134944812	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	4.655000	0.61476	2.036000	0.60181	0.459000	0.35465	TAT	-	NULL		0.632	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	protein_coding	OTTHUMT00000051148.1	T		-		135094822	-1	no_errors	ENST00000543663	ensembl	human	known	74_37	missense	SNP	1.000	C	C	135094822	T	C	135094822	3	2	215	1	0	0	0	0	1	0	0	0	16773	1406	49	5	188	5	TUBGCP2	10	135094822	Missense_Mutation	SNP	T	TCGA-SI-AA8B-01A-11D-A387-09	30976973	135094822	439925	25	17565											
OR52M1	119772	genome.wustl.edu	37	chr11	4566606	4566606	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcaccagcccatgtaCtttttcttgtgcatgttggc	9	12	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr11:4566606C>G	ENST00000360213.1	+	1	186	c.186C>G	c.(184-186)taC>taG	p.Y62*		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATGTACTTTTTCTTGT	0.517																																																	0								ENSG00000197790						147	137	140					11																	4566606		2201	4298	6499	OR52M1	SO:0001587	stop_gained	0			-	HGNC	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.186C>G	11.37:g.4566606C>G	ENSP00000353343:p.Tyr62*	Somatic	0	66	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	91	18.02		Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y62*	ENST00000360213.1	37	c.186	CCDS31353.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170650	0.78452	.	.	ENSG00000197790	ENST00000360213	.	.	.	4.71	1.83	0.25207	.	0.000000	0.42964	D	0.000635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6777	0.40050	0.0:0.7504:0.0:0.2496	.	.	.	.	X	62	.	ENSP00000353343:Y62X	Y	+	3	2	OR52M1	4523182	0.079000	0.21365	1.000000	0.80357	0.956000	0.61745	0.583000	0.23849	0.706000	0.31912	-0.136000	0.14681	TAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52M1	protein_coding	OTTHUMT00000385847.1	C	NM_001004137	-		4566606	1	no_errors	ENST00000360213	ensembl	human	known	74_37	nonsense	SNP	0.685	G	G	4566606	C	G	4566606	4	3	215	1	0	0	0	0	0	1	0	0	11128	576	20	4	188	4	OR52M1	11	4566606	Nonsense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09		4566606	130439910	26	17566											
MRGPRX4	117196	genome.wustl.edu	37	chr11	18195645	18195645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggctcctttaggcagcGtcaaaataggcagaacctga	12	10	1	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr11:18195645G>A	ENST00000314254.3	+	1	1262	c.842G>A	c.(841-843)cGt>cAt	p.R281H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTAGGCAGCGTCAAAATAGG	0.498																																																	0								ENSG00000179817						88	89	89					11																	18195645		2199	4290	6489	MRGPRX4	SO:0001583	missense	0			-	HGNC	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.842G>A	11.37:g.18195645G>A	ENSP00000314042:p.Arg281His	Somatic	0	67	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	33	61.18	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R281H	ENST00000314254.3	37	c.842	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698303	0.15106	.	.	ENSG00000179817	ENST00000314254	T	0.39592	1.07	2.85	-5.7	0.02421	.	0.934257	0.08943	N	0.871317	T	0.35158	0.0922	M	0.79011	2.435	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.21724	-1.0237	10	0.21540	T	0.41	.	5.1213	0.14862	0.3667:0.0:0.4739:0.1594	.	281	Q96LA9	MRGX4_HUMAN	H	281	ENSP00000314042:R281H	ENSP00000314042:R281H	R	+	2	0	MRGPRX4	18152221	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.029000	0.03585	-2.234000	0.00715	-1.179000	0.01719	CGT	-	NULL		0.498	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	protein_coding	OTTHUMT00000389788.1	G	NM_054032	-		18195645	1	no_errors	ENST00000314254	ensembl	human	known	74_37	missense	SNP	0.000	A	A	18195645	G	A	18195645	3	1	215	1	0	0	0	0	1	0	0	0	9771	1145	40	1	844	1	MRGPRX4	11	18195645	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	13629039	18195645	116810871	27	17567											
TTC17	55761	genome.wustl.edu	37	chr11	43418289	43418289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggtactgtataacatgGcttcattttactggagaatt	10	6	1	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr11:43418289G>T	ENST00000039989.4	+	6	708	c.694G>T	c.(694-696)Gct>Tct	p.A232S	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.A232S|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	232					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTATAACATGGCTTCATTTTA	0.388																																																	0								ENSG00000052841						131	125	127					11																	43418289		2202	4300	6502	TTC17	SO:0001583	missense	0			-	HGNC	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.694G>T	11.37:g.43418289G>T	ENSP00000039989:p.Ala232Ser	Somatic	0	41	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	G3XAB3|Q8NEC0	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A232S	ENST00000039989.4	37	c.694	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.512314	0.96402	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.57273	0.41;0.41	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.68952	2.095	0.80722	D	1	D;P;D	0.89917	1.0;0.879;1.0	D;P;D	0.91635	0.998;0.76;0.999	T	0.69939	-0.5009	10	0.44086	T	0.13	-12.1418	19.9855	0.97347	0.0:0.0:1.0:0.0	.	232;232;232	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	S	232	ENSP00000299240:A232S;ENSP00000039989:A232S	ENSP00000039989:A232S	A	+	1	0	TTC17	43374865	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.806000	0.96561	0.655000	0.94253	GCT	-	NULL		0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	protein_coding	OTTHUMT00000389577.2	G	NM_018259	-		43418289	1	no_errors	ENST00000039989	ensembl	human	known	74_37	missense	SNP	1.000	T	T	43418289	G	T	43418289	3	4	215	1	0	0	0	0	1	0	0	0	16691	1203	42	3	716	3	TTC17	11	43418289	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	25222644	43418289	91588227	28	17568											
EPS8	2059	genome.wustl.edu	37	chr12	15776223	15776224	+	Splice_Site	INS	-	-	A													ccaagactattgacagtcctINSaaaaaaaaaaaaaggaaaaa					rs147977740|rs35885542		TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr12:15776223_15776224insA	ENST00000281172.5	-	20	2662		c.e20-2		EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000543612.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site|EPS8_ENST00000543523.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.?(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTGACAGTCCTAAAAAAAAAAA	0.366																																																	1	Unknown(1)	lung(1)						ENSG00000151491																																			EPS8	SO:0001630	splice_region_variant	0				HGNC	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2226-2->T	12.37:g.15776234_15776234dupA		Somatic	0	51	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Splice_Site	INS							-	e19-2	ENST00000281172.5	37	c.2226-3_2226-2	CCDS31753.1	12																																																																																			-	-		0.366	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	protein_coding	OTTHUMT00000401093.1	-			Intron	15776224	-1	no_errors	ENST00000281172	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.000	A	A	15776224	-	A	15776223	8	5	215	1	0	1	1	0	0	0	1	0	5196	1536	53	0	252	0	EPS8	12	15776223	Splice_Site	INS	-	TCGA-SI-AA8B-01A-11D-A387-09		15776223	118075672	29	17569											
RASSF8	11228	genome.wustl.edu	37	chr12	26218075	26218075	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacttcaagaaataagacagAaaataacagaatgtgaaaac	6	5	1	5			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr12:26218075A>T	ENST00000405154.2	+	3	947	c.748A>T	c.(748-750)Aaa>Taa	p.K250*	RASSF8_ENST00000282884.9_Nonsense_Mutation_p.K250*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.K250*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.K250*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.K250*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	250	Glu-rich.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AATAAGACAGAAAATAACAGA	0.358																																																	0								ENSG00000123094						100	107	105					12																	26218075		2203	4300	6503	RASSF8	SO:0001587	stop_gained	0			-	HGNC	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.748A>T	12.37:g.26218075A>T	ENSP00000384491:p.Lys250*	Somatic	0	40	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	A8K1Z0|O95647|Q5SCI2|Q76KB6	Nonsense_Mutation	SNP							pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.K250*	ENST00000405154.2	37	c.748	CCDS53765.1	12	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077193	0.76415	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	.	.	.	5.21	4.03	0.46877	.	0.152790	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3533	11.5375	0.50645	0.7179:0.2821:0.0:0.0	.	.	.	.	X	250	.	ENSP00000282884:K250X	K	+	1	0	RASSF8	26109342	1.000000	0.71417	0.958000	0.39756	0.947000	0.59692	4.359000	0.59449	0.898000	0.36418	0.460000	0.39030	AAA	-	NULL		0.358	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF8	protein_coding	OTTHUMT00000402209.2	A	NM_007211	-		26218075	1	no_errors	ENST00000282884	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	26218075	A	T	26218075	4	4	215	1	0	0	0	0	0	1	0	0	13100	247	9	5	754	5	RASSF8	12	26218075	Nonsense_Mutation	SNP	A	TCGA-SI-AA8B-01A-11D-A387-09	10441852	26218075	107633820	30	17570											
SILV	6490	genome.wustl.edu	37	chr12	56349572	56349572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacactcacccgccttggCaggacacagtcagctcaaat	9	14	3	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr12:56349572C>T	ENST00000548747.1	-	8	2209	c.1547G>A	c.(1546-1548)tGc>tAc	p.C516Y	PMEL_ENST00000550464.1_Missense_Mutation_p.C430Y|PMEL_ENST00000449260.2_Missense_Mutation_p.C516Y|PMEL_ENST00000552882.1_Missense_Mutation_p.C516Y|PMEL_ENST00000550447.1_Missense_Mutation_p.C145Y|PMEL_ENST00000548493.1_Missense_Mutation_p.C516Y|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000360714.4_Missense_Mutation_p.C516Y|PMEL_ENST00000539511.1_Missense_Mutation_p.C430Y|PMEL_ENST00000536427.1_Missense_Mutation_p.C474Y			P40967	PMEL_HUMAN	premelanosome protein	516					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCGCCTTGGCAGGACACAGT	0.517											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000185664						142	127	132					12																	56349572		2203	4300	6503	PMEL	SO:0001583	missense	0			-	HGNC	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1547G>A	12.37:g.56349572C>T	ENSP00000448828:p.Cys516Tyr	Somatic	0	31	0	1014	0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP							pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.C516Y	ENST00000548747.1	37	c.1547	CCDS8897.1	12	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012145	0.93346	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447	T;T;T;T;T;T;T;T	0.60548	0.38;2.32;2.27;2.32;2.32;0.38;0.18;2.27	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000003	T	0.77418	0.4127	M	0.75615	2.305	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.997	T	0.78560	-0.2157	10	0.87932	D	0	-11.4405	18.995	0.92809	0.0:1.0:0.0:0.0	.	430;516;516	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	Y	516;516;430;516;516;516;474;430;145	ENSP00000402758:C516Y;ENSP00000449690:C516Y;ENSP00000450036:C430Y;ENSP00000448828:C516Y;ENSP00000447374:C516Y;ENSP00000353940:C516Y;ENSP00000438695:C474Y;ENSP00000445005:C430Y	ENSP00000353940:C516Y	C	-	2	0	PMEL	54635839	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.619000	0.74219	2.861000	0.98227	0.655000	0.94253	TGC	-	NULL		0.517	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	protein_coding	OTTHUMT00000409626.1	C	NM_006928	-		56349572	-1	no_errors	ENST00000360714	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56349572	C	T	56349572	3	4	215	1	0	0	0	0	1	0	0	0	14330	710	25	2	454	2	SILV	12	56349572	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	30131497	56349572	77502323	31	17571											
TPH2	121278	genome.wustl.edu	37	chr12	72425429	72425429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgcagcgacttgaataCagtgtgtgatgctttaaaca	9	9	0	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr12:72425429C>T	ENST00000333850.3	+	11	1568	c.1427C>T	c.(1426-1428)aCa>aTa	p.T476I		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	476					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GACTTGAATACAGTGTGTGAT	0.413																																																	0								ENSG00000139287						176	172	174					12																	72425429		2203	4300	6503	TPH2	SO:0001583	missense	0			-	HGNC	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1427C>T	12.37:g.72425429C>T	ENSP00000329093:p.Thr476Ile	Somatic	0	47	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	48	15.79	A6NGA4|Q14CB0	Missense_Mutation	SNP							pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.T476I	ENST00000333850.3	37	c.1427	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	C	5.981	0.364911	0.11296	.	.	ENSG00000139287	ENST00000333850	D	0.99488	-6.0	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	N	0.03903	-0.33	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	D	0.94018	0.7290	10	0.02654	T	1	-19.5798	20.1859	0.98214	0.0:1.0:0.0:0.0	.	476	Q8IWU9	TPH2_HUMAN	I	476	ENSP00000329093:T476I	ENSP00000329093:T476I	T	+	2	0	TPH2	70711696	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	4.952000	0.63618	2.777000	0.95525	0.591000	0.81541	ACA	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	protein_coding	OTTHUMT00000405234.1	C	NM_173353	-		72425429	1	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72425429	C	T	72425429	3	4	215	1	0	0	0	0	1	0	0	0	16409	478	17	2	1469	2	TPH2	12	72425429	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	16075857	72425429	61426466	32	17572											
SBNO1	55206	genome.wustl.edu	37	chr12	123812034	123812034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaacttcctcaattTtgaaggtcactccagtaaag	7	8	2	3			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr12:123812034T>C	ENST00000602398.1	-	13	1758	c.1631A>G	c.(1630-1632)aAa>aGa	p.K544R	SBNO1_ENST00000420886.2_Missense_Mutation_p.K544R|SBNO1_ENST00000267176.4_Missense_Mutation_p.K543R|SBNO1_ENST00000602750.1_Missense_Mutation_p.K543R			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	544					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCCTCAATTTTGAAGGTCAC	0.368																																																	0								ENSG00000139697						64	64	64					12																	123812034		2203	4300	6503	SBNO1	SO:0001583	missense	0			-	HGNC	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1631A>G	12.37:g.123812034T>C	ENSP00000473665:p.Lys544Arg	Somatic	0	34	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP							pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.K544R	ENST00000602398.1	37	c.1631	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	T	11.97	1.799009	0.31777	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.30981	1.51;1.51	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	N	0.04203	-0.255	0.80722	D	1	B;B;D	0.71674	0.083;0.02;0.998	B;B;D	0.78314	0.127;0.078;0.991	T	0.24584	-1.0156	10	0.08599	T	0.76	-33.8024	16.5763	0.84648	0.0:0.0:0.0:1.0	.	544;543;542	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	R	544;543;543	ENSP00000387361:K544R;ENSP00000267176:K543R	ENSP00000267176:K543R	K	-	2	0	SBNO1	122377987	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.266000	0.72540	2.317000	0.78254	0.459000	0.35465	AAA	-	NULL		0.368	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	protein_coding	OTTHUMT00000467684.1	T	NM_018183	-		123812034	-1	no_errors	ENST00000420886	ensembl	human	known	74_37	missense	SNP	1.000	C	C	123812034	T	C	123812034	3	2	215	1	0	0	0	0	1	0	0	0	13870	1841	64	5	2630	5	SBNO1	12	123812034	Missense_Mutation	SNP	T	TCGA-SI-AA8B-01A-11D-A387-09	51386605	123812034	10039861	33	17573											
PABPC3	5042	genome.wustl.edu	37	chr13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgaaagtggaaaatccAaaggatttggatttgtaagc	11	5	0	1	rs78826513	byFrequency	TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {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)		TGGAAAATCCAAAGGATTTGG	0.418																																																	0								ENSG00000151846						81	76	78					13																	25671027		2203	4300	6503	PABPC3	SO:0001583	missense	0			-	HGNC	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.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu	Somatic	0	73	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	73	8.75	Q8NHV0|Q9H086	Missense_Mutation	SNP							pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.K231E	ENST00000281589.3	37	c.691	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	protein_coding	OTTHUMT00000044220.2	A	NM_030979	rs78826513		25671027	1	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	SNP	0.999	G	G	25671027	A	G	25671027	3	3	215	1	0	0	0	0	1	0	0	0	11367	131	5	5	693	5	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-SI-AA8B-01A-11D-A387-09		25671027	89498851	34	17574											
KATNAL1	84056	genome.wustl.edu	37	chr13	30829681	30829681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcctacaggtccccggGctcctactcctgccatttct	8	18	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr13:30829681G>A	ENST00000380615.3	-	4	562	c.395C>T	c.(394-396)gCc>gTc	p.A132V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A132V	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		AGGTCCCCGGGCTCCTACTCC	0.453																																																	0								ENSG00000102781						222	234	230					13																	30829681		2203	4300	6503	KATNAL1	SO:0001583	missense	0			-	HGNC	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.395C>T	13.37:g.30829681G>A	ENSP00000369989:p.Ala132Val	Somatic	0	140	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	53	52.59		Missense_Mutation	SNP							pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A132V	ENST00000380615.3	37	c.395	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606766	0.46527	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.94376	-3.41;-3.41	5.8	4.95	0.65309	.	0.486664	0.24443	N	0.038482	D	0.87593	0.6216	N	0.19112	0.55	0.40314	D	0.978758	B	0.02656	0.0	B	0.04013	0.001	T	0.82766	-0.0295	10	0.24483	T	0.36	0.0104	15.7122	0.77641	0.0:0.1372:0.8628:0.0	.	132	Q9BW62	KATL1_HUMAN	V	132	ENSP00000369989:A132V;ENSP00000369991:A132V	ENSP00000369989:A132V	A	-	2	0	KATNAL1	29727681	0.997000	0.39634	1.000000	0.80357	0.881000	0.50899	1.612000	0.36889	1.439000	0.47511	0.650000	0.86243	GCC	-	NULL		0.453	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	protein_coding	OTTHUMT00000044346.2	G	NM_032116	-		30829681	-1	no_errors	ENST00000380615	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30829681	G	A	30829681	3	1	215	1	0	0	0	0	1	0	0	0	7987	1203	42	2	1109	2	KATNAL1	13	30829681	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	5158654	30829681	84340197	35	17575											
FRY	10129	genome.wustl.edu	37	chr13	32711073	32711073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgttcctgaacaggtgGcacattttcctcaacaactg	8	12	1	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr13:32711073G>T	ENST00000380250.3	+	11	1639	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	381						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGAACAGGTGGCACATTTTCC	0.443																																																	0								ENSG00000073910						136	136	136					13																	32711073		1932	4130	6062	FRY	SO:0001583	missense	0			-	HGNC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1143G>T	13.37:g.32711073G>T	ENSP00000369600:p.Trp381Cys	Somatic	0	42	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q9Y3N6	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.W381C	ENST00000380250.3	37	c.1143	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709017	0.89018	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.56103	0.48	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80694	-0.1268	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	381	Q5TBA9	FRY_HUMAN	C	381;309	ENSP00000369600:W381C	ENSP00000267067:W309C	W	+	3	0	FRY	31609073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.804000	0.96469	0.650000	0.86243	TGG	-	NULL		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	G	NM_023037	-		32711073	1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32711073	G	T	32711073	3	4	215	1	0	0	0	0	1	0	0	0	6065	1212	42	3	1185	3	FRY	13	32711073	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	1881392	32711073	82458805	36	17576											
FRY	10129	genome.wustl.edu	37	chr13	32811825	32811825	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaaccatcccaccaacctGctggccaccatattctgggt	6	15	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr13:32811825G>T	ENST00000380250.3	+	44	6616	c.6120G>T	c.(6118-6120)ctG>ctT	p.L2040L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2040						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACCAACCTGCTGGCCACCA	0.493																																																	0								ENSG00000073910						46	46	46					13																	32811825		1987	4163	6150	FRY	SO:0001819	synonymous_variant	0			-	HGNC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6120G>T	13.37:g.32811825G>T		Somatic	0	45	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q9Y3N6	Silent	SNP							superfamily_ARM-type_fold	p.L2040	ENST00000380250.3	37	c.6120	CCDS41875.1	13																																																																																			-	superfamily_ARM-type_fold		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	G	NM_023037	-		32811825	1	no_errors	ENST00000380250	ensembl	human	known	74_37	silent	SNP	0.620	T	T	32811825	G	T	32811825	2	4	215	1	0	0	0	0	0	0	0	1	6065	1306	46	3		3	FRY	13	32811825	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	100752	32811825	82358053	37	17577											
F7	2155	genome.wustl.edu	37	chr13	113765058	113765058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggcgccggcgcgccaAcgcgttcctggaggagctgc	16	16	0	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr13:113765058A>G	ENST00000375581.3	+	3	220	c.185A>G	c.(184-186)aAc>aGc	p.N62S	F7_ENST00000541084.1_Intron|F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.N40S	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	62	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGGCGCGCCAACGCGTTCCTG	0.692																																																	0								ENSG00000057593						13	11	12					13																	113765058		2037	3998	6035	F7	SO:0001583	missense	0			-	HGNC		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.185A>G	13.37:g.113765058A>G	ENSP00000364731:p.Asn62Ser	Somatic	0	142	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	277	9.48	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP							pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.N62S	ENST00000375581.3	37	c.185	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	a	16.43	3.119783	0.56613	.	.	ENSG00000057593	ENST00000346342;ENST00000375581	D;D	0.99784	-6.74;-6.74	4.47	4.47	0.54385	Gamma-carboxyglutamic acid-rich (GLA) domain (3);Coagulation factor, subgroup, Gla domain (1);	0.121288	0.52532	N	0.000064	D	0.99591	0.9852	M	0.88310	2.945	0.80722	D	1	P;P	0.52316	0.948;0.952	P;P	0.50490	0.642;0.536	D	0.97684	1.0174	10	0.87932	D	0	.	13.8175	0.63301	1.0:0.0:0.0:0.0	.	40;62	P08709-2;P08709	.;FA7_HUMAN	S	40;62	ENSP00000329546:N40S;ENSP00000364731:N62S	ENSP00000329546:N40S	N	+	2	0	F7	112813059	0.998000	0.40836	0.515000	0.27774	0.002000	0.02628	3.906000	0.56340	1.661000	0.50771	0.412000	0.27726	AAC	-	pirsf_Pept_S1A_FX,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain		0.692	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	protein_coding	OTTHUMT00000045838.4	A	NM_000131	-		113765058	1	no_errors	ENST00000375581	ensembl	human	known	74_37	missense	SNP	1.000	G	G	113765058	A	G	113765058	3	3	215	1	0	0	0	0	1	0	0	0	5351	43	2	5	195	5	F7	13	113765058	Missense_Mutation	SNP	A	TCGA-SI-AA8B-01A-11D-A387-09	80953233	113765058	1404820	38	17578											
TXNDC16	57544	genome.wustl.edu	37	chr14	52907417	52907417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagtctgaaataactgGgaagattttccacagtgatt	9	6	2	4			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr14:52907417G>T	ENST00000281741.4	-	19	2239	c.1868C>A	c.(1867-1869)cCc>cAc	p.P623H	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	623					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GAAATAACTGGGAAGATTTTC	0.343																																																	0								ENSG00000087301						57	55	56					14																	52907417		2203	4299	6502	TXNDC16	SO:0001583	missense	0			-	HGNC	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1868C>A	14.37:g.52907417G>T	ENSP00000281741:p.Pro623His	Somatic	0	47	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.P623H	ENST00000281741.4	37	c.1868	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954325	0.73902	.	.	ENSG00000087301	ENST00000281741	T	0.31247	1.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.59284	-0.7483	10	0.72032	D	0.01	-52.4122	17.9642	0.89094	0.0:0.0:1.0:0.0	.	618;623	B7ZME4;Q9P2K2	.;TXD16_HUMAN	H	623	ENSP00000281741:P623H	ENSP00000281741:P623H	P	-	2	0	TXNDC16	51977167	1.000000	0.71417	0.965000	0.40720	0.789000	0.44602	6.260000	0.72502	2.577000	0.86979	0.655000	0.94253	CCC	-	NULL		0.343	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	protein_coding	OTTHUMT00000411681.1	G	XM_051699	-		52907417	-1	no_errors	ENST00000281741	ensembl	human	known	74_37	missense	SNP	0.996	T	T	52907417	G	T	52907417	3	4	215	1	0	0	0	0	1	0	0	0	16802	1232	43	3	621	3	TXNDC16	14	52907417	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		52907417	54442123	39	17579											
C15orf52	388115	genome.wustl.edu	37	chr15	40630782	40630782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgcgtgggggggcttCgggtcacacgccctccaggt	15	15	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr15:40630782C>T	ENST00000559313.1	-	5	614	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	200							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GGGGGGGCTTCGGGTCACACG	0.582											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000188549						104	114	111					15																	40630782		2022	4162	6184	C15orf52	SO:0001583	missense	0			-	HGNC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.599G>A	15.37:g.40630782C>T	ENSP00000453969:p.Arg200Gln	Somatic	0	87	0	894	0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	94	30.88	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP							NULL	p.R200Q	ENST00000559313.1	37	c.599	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507202	0.27036	.	.	ENSG00000188549	ENST00000382688;ENST00000397535	.	.	.	4.44	-5.33	0.02713	.	1.020600	0.07843	N	0.963337	T	0.17746	0.0426	L	0.27053	0.805	0.09310	N	1	B;B	0.28971	0.229;0.017	B;B	0.15870	0.014;0.009	T	0.17992	-1.0351	9	0.25751	T	0.34	-0.1407	5.7979	0.18397	0.1416:0.2809:0.0:0.5776	.	132;200	Q6ZUT6-3;Q6ZUT6	.;CO052_HUMAN	Q	200;132	.	ENSP00000372135:R200Q	R	-	2	0	C15orf52	38418074	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.355000	0.02612	-0.790000	0.04492	0.563000	0.77884	CGA	-	NULL		0.582	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	protein_coding	OTTHUMT00000319567.2	C	NM_207380	-		40630782	-1	no_errors	ENST00000559313	ensembl	human	known	74_37	missense	SNP	0.000	T	T	40630782	C	T	40630782	3	4	215	1	0	0	0	0	1	0	0	0	1802	884	31	1	1033	1	C15orf52	15	40630782	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09		40630782	61900610	40	17580											
MEFV	4210	genome.wustl.edu	37	chr16	3299631	3299631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgggagtcctggcaccGggggcagccaggtgagcggc	18	11	1	1	rs104895116		TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr16:3299631G>A	ENST00000219596.1	-	3	1099	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	MEFV_ENST00000536379.1_Missense_Mutation_p.R143W|MEFV_ENST00000339854.4_Missense_Mutation_p.R174W|MEFV_ENST00000541159.1_Missense_Mutation_p.R143W	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	354					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						TCCTGGCACCGGGGGCAGCCA	0.647																																																	0			GRCh37	CM035568	MEFV	M	rs104895116	ENSG00000103313						25	28	27					16																	3299631		2197	4300	6497	MEFV	SO:0001583	missense	0			-	HGNC	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.1060C>T	16.37:g.3299631G>A	ENSP00000219596:p.Arg354Trp	Somatic	0	87	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	125	28.57	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP							pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R354W	ENST00000219596.1	37	c.1060	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979377	0.53827	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64991	-0.13;0.3;0.18;0.3	4.67	-1.56	0.08532	.	1.750020	0.03072	N	0.157340	T	0.62109	0.2401	L	0.40543	1.245	0.09310	N	1	D	0.69078	0.997	P	0.53313	0.723	T	0.54735	-0.8249	10	0.38643	T	0.18	-22.9296	7.1558	0.25637	0.0895:0.0:0.2769:0.6336	.	354	O15553	MEFV_HUMAN	W	354;354;174;143;143;143	ENSP00000219596:R354W;ENSP00000339639:R174W;ENSP00000438711:R143W;ENSP00000445079:R143W	ENSP00000219596:R354W	R	-	1	2	MEFV	3239632	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.551000	0.23361	-0.027000	0.13873	0.563000	0.77884	CGG	-	NULL		0.647	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	G	NM_000243	rs104895116		3299631	-1	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3299631	G	A	3299631	3	1	215	1	0	0	0	0	1	0	0	0	9461	1115	39	1	1317	1	MEFV	16	3299631	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		3299631	87055122	41	17581											
ZNF276	92822	genome.wustl.edu	37	chr16	89799797	89799797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgggacccaagcccggatgGaagaagaagcttcgttgtga	14	10	0	3	rs531487697		TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr16:89799797G>T	ENST00000443381.2	+	7	1354	c.1257G>T	c.(1255-1257)tgG>tgT	p.W419C	ZNF276_ENST00000568064.1_Missense_Mutation_p.W327C|ZNF276_ENST00000289816.5_Missense_Mutation_p.W344C|ZNF276_ENST00000446326.2_Missense_Mutation_p.W205C	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGCCCGGATGGAAGAAGAAGC	0.547																																																	0								ENSG00000158805						122	138	133					16																	89799797		2198	4300	6498	ZNF276	SO:0001583	missense	0			-	HGNC	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1257G>T	16.37:g.89799797G>T	ENSP00000415836:p.Trp419Cys	Somatic	0	46	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP							pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W419C	ENST00000443381.2	37	c.1257	CCDS45554.1	16	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300071	0.60195	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06528	3.41;3.29;3.33	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.32530	0.975	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;0.998;0.999	T	0.00313	-1.1825	10	0.51188	T	0.08	-28.3367	19.2304	0.93836	0.0:0.0:1.0:0.0	.	257;419;205;344	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	C	205;344;419	ENSP00000415999:W205C;ENSP00000289816:W344C;ENSP00000415836:W419C	ENSP00000289816:W344C	W	+	3	0	ZNF276	88327298	1.000000	0.71417	0.998000	0.56505	0.120000	0.20174	8.536000	0.90627	2.782000	0.95742	0.655000	0.94253	TGG	-	NULL		0.547	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	protein_coding	OTTHUMT00000422517.1	G	NM_152287	-		89799797	1	no_errors	ENST00000443381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	89799797	G	T	89799797	3	4	215	1	0	0	0	0	1	0	0	0	17818	1183	41	3	1283	3	ZNF276	16	89799797	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	86500166	89799797	554956	42	17582											
KCNJ12	3768	genome.wustl.edu	37	chr17	21318772	21318772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcaaggtgcacacgcggCgcaggtgccgcaaccgcttc	14	15	0	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr17:21318772C>T	ENST00000583088.1	+	3	1013	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R40C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	40					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCACACGCGGCGCAGGTGCCG	0.612										Prostate(3;0.18)																																							0								ENSG00000184185						116	88	98					17																	21318772		2203	4300	6503	KCNJ12	SO:0001583	missense	0			-	HGNC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.118C>T	17.37:g.21318772C>T	ENSP00000463778:p.Arg40Cys	Somatic	0	129	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	168	13.85	O43401|Q15756|Q8NG63	Missense_Mutation	SNP							pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.R40C	ENST00000583088.1	37	c.118	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395066	0.62066	.	.	ENSG00000184185	ENST00000331718	T	0.38722	1.12	5.33	3.24	0.37175	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.175986	0.42964	U	0.000638	T	0.54415	0.1857	L	0.59436	1.845	0.58432	D	0.999999	D	0.76494	0.999	D	0.64877	0.93	T	0.56980	-0.7889	10	0.87932	D	0	.	9.5137	0.39093	0.3622:0.5301:0.1077:0.0	.	40	Q14500	IRK12_HUMAN	C	40	ENSP00000328150:R40C	ENSP00000328150:R40C	R	+	1	0	KCNJ12	21259365	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.763000	0.38461	1.242000	0.43836	0.591000	0.81541	CGC	-	pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	protein_coding	OTTHUMT00000255060.2	C	NM_021012	-		21318772	1	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21318772	C	T	21318772	3	4	215	1	0	0	0	0	1	0	0	0	8048	768	27	1	120	1	KCNJ12	17	21318772	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09		21318772	59876438	43	17583											
TAOK1	57551	genome.wustl.edu	37	chr17	27822611	27822611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggagcgccctgaaaccGtgttaatagatctcattcag	10	10	2	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr17:27822611G>A	ENST00000261716.3	+	11	1384	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TAOK1_ENST00000536202.1_Missense_Mutation_p.V289M	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	289					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCCTGAAACCGTGTTAATAGA	0.413																																																	0								ENSG00000160551						112	108	109					17																	27822611		2203	4300	6503	TAOK1	SO:0001583	missense	0			-	HGNC	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.865G>A	17.37:g.27822611G>A	ENSP00000261716:p.Val289Met	Somatic	0	81	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	59	24.36	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V289M	ENST00000261716.3	37	c.865	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.307465	0.95629	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.86366	-2.11;-2.11	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.991	P;D;P	0.65773	0.893;0.938;0.673	D	0.93873	0.7164	10	0.87932	D	0	.	19.1509	0.93488	0.0:0.0:1.0:0.0	.	289;115;289	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	M	289	ENSP00000261716:V289M;ENSP00000438819:V289M	ENSP00000261716:V289M	V	+	1	0	TAOK1	24846737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.660000	0.98599	2.599000	0.87857	0.563000	0.77884	GTG	-	superfamily_Kinase-like_dom		0.413	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	protein_coding	OTTHUMT00000447790.1	G	NM_020791	-		27822611	1	no_errors	ENST00000261716	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27822611	G	A	27822611	3	1	215	1	0	0	0	0	1	0	0	0	15554	1145	40	1	903	1	TAOK1	17	27822611	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	6503839	27822611	53372599	44	17584											
SKAP1	8631	genome.wustl.edu	37	chr17	46507467	46507467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacggatctcctcagggaGggcggcggcctgcatttggc	15	13	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr17:46507467G>A	ENST00000336915.6	-	1	85	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	SKAP1_ENST00000584924.1_Missense_Mutation_p.L6F	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	6					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCCTCAGGGAGGGCGGCGGCC	0.736																																																	0								ENSG00000141293						12	12	12					17																	46507467		2097	4159	6256	SKAP1	SO:0001583	missense	0			-	HGNC	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.16C>T	17.37:g.46507467G>A	ENSP00000338171:p.Leu6Phe	Somatic	0	109	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	135	17.18	D3DTV1|O15268	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.L6F	ENST00000336915.6	37	c.16	CCDS32674.1	17	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603829	0.28534	.	.	ENSG00000141293	ENST00000336915	T	0.37752	1.18	2.8	2.8	0.32819	.	0.482934	0.17798	U	0.161664	T	0.40670	0.1126	L	0.56769	1.78	0.28100	N	0.931466	P;D	0.54772	0.806;0.968	B;P	0.50970	0.312;0.655	T	0.29671	-1.0004	10	0.72032	D	0.01	.	6.8364	0.23939	0.0:0.0:0.7232:0.2768	.	6;6	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	F	6	ENSP00000338171:L6F	ENSP00000338171:L6F	L	-	1	0	SKAP1	43862466	0.999000	0.42202	1.000000	0.80357	0.520000	0.34377	3.515000	0.53429	1.408000	0.46895	0.185000	0.17295	CTC	-	NULL		0.736	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	protein_coding	OTTHUMT00000443432.1	G	NM_003726	-		46507467	-1	no_errors	ENST00000336915	ensembl	human	known	74_37	missense	SNP	0.998	A	A	46507467	G	A	46507467	3	1	215	1	0	0	0	0	1	0	0	0	14363	1000	35	2	1111	2	SKAP1	17	46507467	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	18684856	46507467	34687743	45	17585											
HCN2	610	genome.wustl.edu	37	chr19	590536	590536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagcaggagcgcgtcaaGtcggcgggggcctggatcat	18	11	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr19:590536G>T	ENST00000251287.2	+	1	644	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	197	Involved in subunit assembly. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		AGCGCGTCAAGTCGGCGGGGG	0.736																																					Melanoma(145;1175 2427 8056 36306)												0								ENSG00000099822						12	14	13					19																	590536		2111	4155	6266	HCN2	SO:0001583	missense	0			-	HGNC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.591G>T	19.37:g.590536G>T	ENSP00000251287:p.Lys197Asn	Somatic	0	47	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP							pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.K197N	ENST00000251287.2	37	c.591	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	20.3	3.970376	0.74246	.	.	ENSG00000099822	ENST00000251287	T	0.79554	-1.28	2.44	1.38	0.22167	Ion transport N-terminal (1);	.	.	.	.	D	0.85570	0.5727	M	0.82517	2.595	0.47407	D	0.999414	D	0.55385	0.971	P	0.59424	0.857	D	0.84761	0.0762	9	0.87932	D	0	.	5.3103	0.15828	0.2967:0.0:0.7033:0.0	.	197	Q9UL51	HCN2_HUMAN	N	197	ENSP00000251287:K197N	ENSP00000251287:K197N	K	+	3	2	HCN2	541536	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.386000	0.34419	1.306000	0.44926	0.282000	0.19409	AAG	-	pfam_Ion_trans_N		0.736	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	protein_coding	OTTHUMT00000452100.1	G	NM_001194	-		590536	1	no_errors	ENST00000251287	ensembl	human	known	74_37	missense	SNP	1.000	T	T	590536	G	T	590536	3	4	215	1	0	0	0	0	1	0	0	0	6999	1020	36	3	593	3	HCN2	19	590536	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		590536	58538447	46	17586											
PNPLA6	10908	genome.wustl.edu	37	chr19	7619936	7619936	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtccgcgccgcctctTttcgcgccgcagccctgcca	11	20	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr19:7619936T>A	ENST00000221249.6	+	25	3109	c.2678T>A	c.(2677-2679)tTt>tAt	p.F893Y	PNPLA6_ENST00000414982.3_Missense_Mutation_p.F941Y|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F931Y|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F866Y|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F893Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	932					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCCGCCTCTTTTCGCGCCGC	0.731																																																	0								ENSG00000032444						7	9	8					19																	7619936		2152	4233	6385	PNPLA6	SO:0001583	missense	0			-	HGNC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2678T>A	19.37:g.7619936T>A	ENSP00000221249:p.Phe893Tyr	Somatic	0	49	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP							pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F941Y	ENST00000221249.6	37	c.2822	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	t	21.9	4.222094	0.79464	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.35	5.35	0.76521	.	0.110115	0.64402	D	0.000006	T	0.51975	0.1706	M	0.83012	2.62	0.58432	D	0.999997	D;D;P;D	0.69078	0.997;0.996;0.685;0.974	D;D;B;D	0.65573	0.911;0.936;0.382;0.915	T	0.58836	-0.7566	10	0.72032	D	0.01	.	13.3305	0.60483	0.0:0.0:0.0:1.0	.	932;866;931;893	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Y	893;866;941;893	ENSP00000221249:F893Y;ENSP00000443323:F866Y;ENSP00000407509:F941Y;ENSP00000394348:F893Y	ENSP00000221249:F893Y	F	+	2	0	PNPLA6	7525936	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	7.975000	0.88055	2.040000	0.60383	0.454000	0.30748	TTT	-	NULL		0.731	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	protein_coding	OTTHUMT00000459275.1	T	NM_006702	-		7619936	1	no_errors	ENST00000414982	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7619936	T	A	7619936	3	1	215	1	0	0	0	0	1	0	0	0	12171	1841	64	5	2912	5	PNPLA6	19	7619936	Missense_Mutation	SNP	T	TCGA-SI-AA8B-01A-11D-A387-09	7029400	7619936	51509047	47	17587											
CACNA1A	773	genome.wustl.edu	37	chr19	13410062	13410062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcgtccgggtccatttcGttatacagggcctcccggct	11	15	0	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr19:13410062G>A	ENST00000360228.5	-	19	2384	c.2385C>T	c.(2383-2385)aaC>aaT	p.N795N	CACNA1A_ENST00000573710.2_Silent_p.N796N	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	796					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)			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)	GGTCCATTTCGTTATACAGGG	0.622																																																	0								ENSG00000141837						63	69	67					19																	13410062		2058	4182	6240	CACNA1A	SO:0001819	synonymous_variant	0			-	HGNC	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.2385C>T	19.37:g.13410062G>A		Somatic	0	117	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	70	92	43.21	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.N795	ENST00000360228.5	37	c.2385	CCDS45998.1	19																																																																																			-	NULL		0.622	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	G	NM_000068	-		13410062	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	SNP	0.916	A	A	13410062	G	A	13410062	2	1	215	1	0	0	0	0	0	0	0	1	2540	1136	40	1		1	CACNA1A	19	13410062	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	5790126	13410062	45718921	48	17588											
ZNF536	9745	genome.wustl.edu	37	chr19	30935562	30935562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcctcaagggtcacatgCgcaagcacaaagactccttt	9	12	2	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr19:30935562C>A	ENST00000355537.3	+	2	1240	c.1093C>A	c.(1093-1095)Cgc>Agc	p.R365S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	365					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGTCACATGCGCAAGCACAA	0.617																																																	0								ENSG00000198597						99	105	103					19																	30935562		2203	4300	6503	ZNF536	SO:0001583	missense	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1093C>A	19.37:g.30935562C>A	ENSP00000347730:p.Arg365Ser	Somatic	0	77	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A2RU18	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R365S	ENST00000355537.3	37	c.1093	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301359	0.40694	.	.	ENSG00000198597	ENST00000355537	T	0.56776	0.44	5.41	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	L	0.56124	1.755	0.49130	D	0.999759	D;D	0.89917	0.973;1.0	D;D	0.91635	0.93;0.999	T	0.66925	-0.5800	10	0.72032	D	0.01	-25.9075	10.8773	0.46919	0.421:0.579:0.0:0.0	.	365;365	A7E228;O15090	.;ZN536_HUMAN	S	365	ENSP00000347730:R365S	ENSP00000347730:R365S	R	+	1	0	ZNF536	35627402	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.834000	0.48167	2.523000	0.85059	0.491000	0.48974	CGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	C	NM_014717	-		30935562	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	SNP	1.000	A	A	30935562	C	A	30935562	3	1	215	1	0	0	0	0	1	0	0	0	17981	768	27	3	1095	3	ZNF536	19	30935562	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	17525500	30935562	28193421	49	17589											
CLPTM1	1209	genome.wustl.edu	37	chr19	45489826	45489826	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgtgccccctcccctGgatcaatgtaagctccccag	10	16	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr19:45489826G>T	ENST00000337392.5	+	7	936	c.786G>T	c.(784-786)ctG>ctT	p.L262L	CLPTM1_ENST00000541297.2_Silent_p.L248L|CLPTM1_ENST00000546079.1_Silent_p.L160L|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCCCTCCCCTGGATCAATGTA	0.622																																																	0								ENSG00000104853						104	85	91					19																	45489826		2203	4300	6503	CLPTM1	SO:0001819	synonymous_variant	0			-	HGNC	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.786G>T	19.37:g.45489826G>T		Somatic	0	28	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP							pfam_CLPTM1	p.L262	ENST00000337392.5	37	c.786	CCDS12651.1	19																																																																																			-	pfam_CLPTM1		0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	G	NM_001294	-		45489826	1	no_errors	ENST00000337392	ensembl	human	known	74_37	silent	SNP	1.000	T	T	45489826	G	T	45489826	2	4	215	1	0	0	0	0	0	0	0	1	3556	1335	47	3		3	CLPTM1	19	45489826	Silent	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	14554264	45489826	13639157	50	17590											
SPIB	6689	genome.wustl.edu	37	chr19	50923209	50923209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccccctccaggctcgaCgggccacacttcagctgtct	8	19	3	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr19:50923209C>A	ENST00000595883.1	+	2	55	c.30C>A	c.(28-30)gaC>gaA	p.D10E	SPIB_ENST00000597855.1_Missense_Mutation_p.D10E|SPIB_ENST00000596074.1_Missense_Mutation_p.D10E|SPIB_ENST00000270632.7_Missense_Mutation_p.D10E|CTD-2545M3.6_ENST00000599632.1_Silent_p.R145R|SPIB_ENST00000439922.2_5'UTR	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	10	TAD1 (Acidic).				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCAGGCTCGACGGGCCACACT	0.647																																																	0								ENSG00000269404						35	30	32					19																	50923209		2201	4300	6501	SPIB	SO:0001583	missense	0			-	HGNC		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.30C>A	19.37:g.50923209C>A	ENSP00000471921:p.Asp10Glu	Somatic	0	240	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	127	35.20	A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.D10E	ENST00000595883.1	37	c.30	CCDS33080.1	19	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740744	0.30865	.	.	ENSG00000142539	ENST00000270632	T	0.52754	0.65	2.29	-1.33	0.09172	.	.	.	.	.	T	0.44393	0.1291	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.69479	0.943;0.964	T	0.57046	-0.7878	9	0.02654	T	1	0.1745	5.2332	0.15434	0.0:0.4095:0.0:0.5905	.	10;10	Q01892-2;Q01892	.;SPIB_HUMAN	E	10	ENSP00000270632:D10E	ENSP00000270632:D10E	D	+	3	2	SPIB	55615021	0.000000	0.05858	0.985000	0.45067	0.897000	0.52465	-4.360000	0.00246	-0.258000	0.09446	-0.476000	0.04901	GAC	-	NULL		0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIB	protein_coding	OTTHUMT00000464744.1	C	NM_003121	-		50923209	1	no_errors	ENST00000595883	ensembl	human	known	74_37	missense	SNP	0.990	A	A	50923209	C	A	50923209	3	1	215	1	0	0	0	0	1	0	0	0	15057	535	19	3	36	3	SPIB	19	50923209	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	5433383	50923209	8205774	51	17591											
PSMF1	9491	genome.wustl.edu	37	chr20	1115769	1115769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgcttcctgcaggacctAcaagaacagtgaggagcttc	10	11	1	2	rs371369250		TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr20:1115769A>G	ENST00000335877.6	+	4	547	c.371A>G	c.(370-372)tAc>tGc	p.Y124C	PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.Y124C|PSMF1_ENST00000381898.4_Missense_Mutation_p.Y36C|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.Y124C	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	124	Important for homodimerization and interaction with FBXO7.				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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TGCAGGACCTACAAGAACAGT	0.557																																																	0								ENSG00000125818	A	CYS/TYR,CYS/TYR	0,4406		0,0,2203	106	92	97		371,371	5	1	20		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PSMF1	NM_006814.3,NM_178578.2	194,194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	124/272,124/272	1115769	1,13005	2203	4300	6503	PSMF1	SO:0001583	missense	0			-	HGNC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.371A>G	20.37:g.1115769A>G	ENSP00000338039:p.Tyr124Cys	Somatic	0	68	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	17	58.54	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP							pfam_FP_dom,pfam_PI31_Prot_Reg	p.Y124C	ENST00000335877.6	37	c.371	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248454	0.59103	0.0	1.16E-4	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.98	4.98	0.66077	.	0.068468	0.64402	D	0.000012	T	0.60104	0.2243	M	0.61703	1.905	0.44789	D	0.997793	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.997	T	0.62426	-0.6857	10	0.59425	D	0.04	-15.9569	12.2968	0.54852	1.0:0.0:0.0:0.0	.	36;36;124;124	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	C	124;36;124;36;124;124	ENSP00000327704:Y124C;ENSP00000371323:Y36C;ENSP00000371324:Y124C;ENSP00000246015:Y124C;ENSP00000338039:Y124C	ENSP00000246015:Y124C	Y	+	2	0	PSMF1	1063769	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.629000	0.54266	2.099000	0.63709	0.528000	0.53228	TAC	-	pfam_FP_dom		0.557	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	protein_coding	OTTHUMT00000077504.2	A	NM_178578	-		1115769	1	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	SNP	1.000	G	G	1115769	A	G	1115769	3	3	215	1	0	0	0	0	1	0	0	0	12715	391	14	5	385	5	PSMF1	20	1115769	Missense_Mutation	SNP	A	TCGA-SI-AA8B-01A-11D-A387-09		1115769	61909751	52	17592											
TTLL9	164395	genome.wustl.edu	37	chr20	30522516	30522516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaagtggacgctgcagCgcttccggcagtacctggcg	15	13	0	0	rs369485862		TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chr20:30522516C>T	ENST00000375938.4	+	12	1082	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	TTLL9_ENST00000375934.4_Silent_p.S244S|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Missense_Mutation_p.R277C|TTLL9_ENST00000310998.4_Missense_Mutation_p.R242C|TTLL9_ENST00000375922.4_Missense_Mutation_p.R219C			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	277	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.R277C(1)|p.R266C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GACGCTGCAGCGCTTCCGGCA	0.607																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000131044	C	CYS/ARG	0,3982		0,0,1991	27	28	28		829	4.2	1	20		28	2,8324		0,2,4161	no	missense	TTLL9	NM_001008409.2	180	0,2,6152	TT,TC,CC		0.024,0.0,0.0162	benign	277/440	30522516	2,12306	1991	4163	6154	TTLL9	SO:0001583	missense	0			-	HGNC	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.829C>T	20.37:g.30522516C>T	ENSP00000365105:p.Arg277Cys	Somatic	0	34	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	43	42.11	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP							pfam_TTL/TTLL_fam	p.R277C	ENST00000375938.4	37	c.829	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672569	0.88348	0.0	2.4E-4	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375935;ENST00000375922	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.09	4.15	0.48705	.	0.197212	0.46145	D	0.000316	T	0.16727	0.0402	L	0.46157	1.445	0.80722	D	1	D;D	0.67145	0.992;0.996	P;D	0.65443	0.809;0.935	T	0.00501	-1.1702	10	0.72032	D	0.01	.	12.8253	0.57716	0.0:0.9199:0.0:0.0801	.	277;179	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	C	277;277;242;266;219	ENSP00000365105:R277C;ENSP00000442515:R277C;ENSP00000308980:R242C;ENSP00000365088:R219C	ENSP00000308980:R242C	R	+	1	0	TTLL9	29986177	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.034000	0.57289	1.279000	0.44446	-0.254000	0.11334	CGC	-	pfam_TTL/TTLL_fam		0.607	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	protein_coding		C	NM_001008409	-		30522516	1	no_errors	ENST00000375938	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30522516	C	T	30522516	3	4	215	1	0	0	0	0	1	0	0	0	16741	768	27	1	871	1	TTLL9	20	30522516	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	29406747	30522516	32503004	53	17593											
CDKL5	6792	genome.wustl.edu	37	chrX	18622326	18622326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacccaaagccttcagaaGgcccagggacaaagtacctc	9	13	1	2			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:18622326G>T	ENST00000379989.3	+	13	1567	c.1282G>T	c.(1282-1284)Ggc>Tgc	p.G428C	CDKL5_ENST00000379996.3_Missense_Mutation_p.G428C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	428					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCCTTCAGAAGGCCCAGGGAC	0.453																																																	0								ENSG00000008086						132	133	133					X																	18622326		2203	4300	6503	CDKL5	SO:0001583	missense	0			-	HGNC	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1282G>T	X.37:g.18622326G>T	ENSP00000369325:p.Gly428Cys	Somatic	0	56	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G428C	ENST00000379989.3	37	c.1282	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212107	0.58452	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.74632	-0.86;-0.86	6.06	6.06	0.98353	.	0.043072	0.85682	D	0.000000	T	0.80586	0.4651	L	0.29908	0.895	0.44302	D	0.997173	D	0.89917	1.0	D	0.69307	0.963	T	0.81364	-0.0966	10	0.56958	D	0.05	-19.3549	19.5011	0.95095	0.0:0.0:1.0:0.0	.	428	O76039	CDKL5_HUMAN	C	428	ENSP00000369332:G428C;ENSP00000369325:G428C	ENSP00000369325:G428C	G	+	1	0	CDKL5	18532247	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.399000	0.73248	2.560000	0.86352	0.600000	0.82982	GGC	-	NULL		0.453	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	protein_coding	OTTHUMT00000055945.2	G	NM_003159	-		18622326	1	no_errors	ENST00000379989	ensembl	human	known	74_37	missense	SNP	1.000	T	T	18622326	G	T	18622326	3	4	215	1	0	0	0	0	1	0	0	0	3159	1000	35	3	1324	3	CDKL5	23	18622326	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09		18622326	136648234	54	17594											
TAF1	6872	genome.wustl.edu	37	chrX	70598812	70598812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagggacaaaacctcagCgtgcaagcctggcaggctgg	13	11	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:70598812C>T	ENST00000373790.4	+	8	1339	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TAF1_ENST00000449580.1_Missense_Mutation_p.R430C|TAF1_ENST00000423759.1_Missense_Mutation_p.R451C|TAF1_ENST00000276072.3_Missense_Mutation_p.R451C	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	430					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAACCTCAGCGTGCAAGCCT	0.507																																																	0								ENSG00000147133						224	166	186					X																	70598812		2203	4300	6503	TAF1	SO:0001583	missense	0			-	HGNC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1288C>T	X.37:g.70598812C>T	ENSP00000362895:p.Arg430Cys	Somatic	0	60	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	52	34.18	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R430C	ENST00000373790.4	37	c.1288	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	17.02	3.282588	0.59867	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10382	2.88;2.94;2.93;2.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	L	0.47716	1.5	0.80722	D	1	D;D	0.59357	0.975;0.985	P;P	0.54815	0.582;0.761	T	0.00124	-1.2024	10	0.72032	D	0.01	.	12.7536	0.57321	0.2863:0.7137:0.0:0.0	.	430;451	P21675;P21675-2	TAF1_HUMAN;.	C	430;430;451;451	ENSP00000362895:R430C;ENSP00000389000:R430C;ENSP00000406549:R451C;ENSP00000276072:R451C	ENSP00000276072:R451C	R	+	1	0	TAF1	70515537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.603000	0.46266	2.498000	0.84270	0.513000	0.50165	CGT	-	pirsf_TAF1_animal		0.507	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	C	NM_004606	-		70598812	1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70598812	C	T	70598812	3	4	215	1	0	0	0	0	1	0	0	0	15520	768	27	1	1381	1	TAF1	23	70598812	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	51976486	70598812	84671748	55	17595											
ATRX	546	genome.wustl.edu	37	chrX	76938686	76938686	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgatagtttttgttTctccttaactgtttcattac	6	7	2	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:76938686T>A	ENST00000373344.5	-	9	2276	c.2062A>T	c.(2062-2064)Aaa>Taa	p.K688*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.K650*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	688					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTTTTTGTTTCTCCTTAACT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						137	135	136					X																	76938686		2203	4295	6498	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2062A>T	X.37:g.76938686T>A	ENSP00000362441:p.Lys688*	Somatic	0	28	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	24	47.83	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K688*	ENST00000373344.5	37	c.2062	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	T	36	5.923794	0.97110	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.12	2.67	0.31697	.	0.066111	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7636	7.3742	0.26818	0.0:0.0764:0.1418:0.7818	.	.	.	.	X	688;650;615	.	ENSP00000362441:K688X	K	-	1	0	ATRX	76825342	1.000000	0.71417	0.873000	0.34254	0.246000	0.25737	3.918000	0.56432	0.147000	0.19030	-0.466000	0.05196	AAA	-	NULL		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489	-		76938686	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.984	A	A	76938686	T	A	76938686	4	1	215	1	0	0	0	0	0	1	0	0	1208	1792	62	5	5524	5	ATRX	23	76938686	Nonsense_Mutation	SNP	T	TCGA-SI-AA8B-01A-11D-A387-09	6339874	76938686	78331874	56	17596											
POF1B	79983	genome.wustl.edu	37	chrX	84614563	84614563	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttggtgtcttacctgttcagGattttgtactacatatttcc	7	8	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:84614563G>C	ENST00000262753.4	-	4	575	c.430C>G	c.(430-432)Cct>Gct	p.P144A	POF1B_ENST00000373145.3_Missense_Mutation_p.P144A	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	144						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACCTGTTCAGGATTTTGTACT	0.333																																																	0								ENSG00000124429						166	145	152					X																	84614563		2203	4298	6501	POF1B	SO:0001583	missense	0			-	HGNC	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.430C>G	X.37:g.84614563G>C	ENSP00000262753:p.Pro144Ala	Somatic	0	84	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	51	50.49	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP							NULL	p.P144A	ENST00000262753.4	37	c.430	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724026	0.30593	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.33438	1.42;1.41	4.77	3.88	0.44766	.	0.121898	0.37304	N	0.002144	T	0.27027	0.0662	L	0.50333	1.59	0.38207	D	0.94036	B;B	0.13594	0.008;0.002	B;B	0.14578	0.011;0.005	T	0.09952	-1.0651	10	0.40728	T	0.16	.	9.6613	0.39956	0.0:0.2064:0.7936:0.0	.	144;144	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	A	144	ENSP00000262753:P144A;ENSP00000362238:P144A	ENSP00000262753:P144A	P	-	1	0	POF1B	84501219	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.522000	0.45572	0.978000	0.38470	0.506000	0.49869	CCT	-	NULL		0.333	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	protein_coding	OTTHUMT00000057391.2	G	NM_024921	-		84614563	-1	no_errors	ENST00000373145	ensembl	human	known	74_37	missense	SNP	1.000	C	C	84614563	G	C	84614563	3	2	215	1	0	0	0	0	1	0	0	0	12184	1174	41	4	1395	4	POF1B	23	84614563	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	7675877	84614563	70655997	57	17597											
AMOT	154796	genome.wustl.edu	37	chrX	112022791	112022791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcccacgttcagtttggGtactgcagtctcggctgcct	11	14	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:112022791G>A	ENST00000524145.1	-	11	2665	c.2591C>T	c.(2590-2592)aCc>aTc	p.T864I	AMOT_ENST00000371959.3_Missense_Mutation_p.T864I|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.T632I|AMOT_ENST00000304758.1_Missense_Mutation_p.T455I			Q4VCS5	AMOT_HUMAN	angiomotin	864					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)			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						TTCAGTTTGGGTACTGCAGTC	0.592																																																	0								ENSG00000126016						116	77	91					X																	112022791		2203	4300	6503	AMOT	SO:0001583	missense	0			-	HGNC	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.2591C>T	X.37:g.112022791G>A	ENSP00000429013:p.Thr864Ile	Somatic	0	70	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	92	9.80	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP							pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.T864I	ENST00000524145.1	37	c.2591	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292894	0.80914	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.38722	1.49;1.12;1.34;1.12	5.5	5.5	0.81552	.	0.047914	0.85682	D	0.000000	T	0.63129	0.2485	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.69307	0.963	T	0.65047	-0.6263	10	0.56958	D	0.05	-15.4293	17.3331	0.87271	0.0:0.0:1.0:0.0	.	864	Q4VCS5	AMOT_HUMAN	I	455;864;632;864;104	ENSP00000305557:T455I;ENSP00000361027:T864I;ENSP00000361030:T632I;ENSP00000429013:T864I	ENSP00000305557:T455I	T	-	2	0	AMOT	111909447	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.676000	0.98643	2.305000	0.77605	0.529000	0.55759	ACC	-	NULL		0.592	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	G	NM_133265	-		112022791	-1	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112022791	G	A	112022791	3	1	215	1	0	0	0	0	1	0	0	0	582	1261	44	2	671	2	AMOT	23	112022791	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	27408228	112022791	43247769	58	17598											
GPR112	139378	genome.wustl.edu	37	chrX	135426697	135426697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaagcatacctatatttGcaactgattacacaaccata	3	11	1	1			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:135426697G>T	ENST00000394143.1	+	6	1123	c.832G>T	c.(832-834)Gca>Tca	p.A278S	GPR112_ENST00000370652.1_Missense_Mutation_p.A278S|GPR112_ENST00000394141.1_Missense_Mutation_p.A73S|GPR112_ENST00000287534.4_Missense_Mutation_p.A215S|GPR112_ENST00000412101.1_Missense_Mutation_p.A73S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	278					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)					ACCTATATTTGCAACTGATTA	0.373																																																	0								ENSG00000156920						204	159	174					X																	135426697		2203	4300	6503	GPR112	SO:0001583	missense	0			-	HGNC	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.832G>T	X.37:g.135426697G>T	ENSP00000377699:p.Ala278Ser	Somatic	0	59	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A278S	ENST00000394143.1	37	c.832	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	4.994	0.184572	0.09495	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33865	1.42;1.42;1.39;1.52;1.39	4.27	-0.887	0.10587	.	.	.	.	.	T	0.18923	0.0454	N	0.19112	0.55	0.09310	N	1	B;B;B	0.28713	0.22;0.123;0.075	B;B;B	0.27076	0.076;0.042;0.019	T	0.19976	-1.0289	9	0.46703	T	0.11	.	3.0548	0.06181	0.4591:0.0:0.3411:0.1998	.	215;73;278	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	278;278;73;215;73	ENSP00000377699:A278S;ENSP00000359686:A278S;ENSP00000416526:A73S;ENSP00000287534:A215S;ENSP00000377697:A73S	ENSP00000287534:A215S	A	+	1	0	GPR112	135254363	0.205000	0.23458	0.003000	0.11579	0.044000	0.14063	0.339000	0.19875	-0.082000	0.12640	0.502000	0.49764	GCA	-	NULL		0.373	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	G		-		135426697	1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	SNP	0.002	T	T	135426697	G	T	135426697	3	4	215	1	0	0	0	0	1	0	0	0	6631	1319	46	3	842	3	GPR112	23	135426697	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	23403906	135426697	19843863	59	17599											
SOX3	6658	genome.wustl.edu	37	chrX	139586763	139586763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccagggccattttgcGccgctgcccgcgggaccata	12	15	1	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:139586763G>A	ENST00000370536.2	-	1	462	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R155C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000134595						49	50	50					X																	139586763		2203	4300	6503	SOX3	SO:0001583	missense	0			-	HGNC		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.463C>T	X.37:g.139586763G>A	ENSP00000359567:p.Arg155Cys	Somatic	0	142	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	194	14.91	P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP							pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R155C	ENST00000370536.2	37	c.463	CCDS14669.1	X	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518465	0.64634	.	.	ENSG00000134595	ENST00000370536	D	0.99277	-5.67	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.99465	0.9810	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98794	1.0737	9	.	.	.	.	10.1878	0.43009	0.0:0.0:0.8014:0.1986	.	155	P41225	SOX3_HUMAN	C	155	ENSP00000359567:R155C	.	R	-	1	0	SOX3	139414429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.574000	0.53863	1.638000	0.50547	0.525000	0.51046	CGC	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.632	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	protein_coding	OTTHUMT00000058577.1	G		-		139586763	-1	no_errors	ENST00000370536	ensembl	human	known	74_37	missense	SNP	1.000	A	A	139586763	G	A	139586763	3	1	215	1	0	0	0	0	1	0	0	0	14959	1087	38	1	881	1	SOX3	23	139586763	Missense_Mutation	SNP	G	TCGA-SI-AA8B-01A-11D-A387-09	4160066	139586763	15683797	60	17600											
F8	2157	genome.wustl.edu	37	chrX	154124375	154124375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggttccagtggaatttcCtcgataagtctgccacttct	8	10	2	0			TCGA-SI-AA8B-01A-11D-A387-09	TCGA-SI-AA8B-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e8ac125-c26a-4677-9ddb-c0b6c8fa4ddb	47631d66-5a15-4dbc-a27c-c9505a24e1a8	g.chrX:154124375C>T	ENST00000360256.4	-	22	6606	c.6406G>A	c.(6406-6408)Gga>Aga	p.G2136R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2136	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTGGAATTTCCTCGATAAGTC	0.403																																																	0			GRCh37	CI064690	F8	I		ENSG00000185010						144	138	140					X																	154124375		2203	4300	6503	F8	SO:0001583	missense	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6406G>A	X.37:g.154124375C>T	ENSP00000353393:p.Gly2136Arg	Somatic	0	101	0		0.589696293808256				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	104	16.13	Q14286|Q5HY69	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.G2136R	ENST00000360256.4	37	c.6406	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	c	26.2	4.715536	0.89112	.	.	ENSG00000185010	ENST00000360256	D	0.98937	-5.25	5.65	5.65	0.86999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.049433	0.85682	D	0.000000	D	0.99187	0.9718	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99640	1.0988	10	0.87932	D	0	-17.2037	17.1744	0.86837	0.0:1.0:0.0:0.0	.	2136	P00451	FA8_HUMAN	R	2136	ENSP00000353393:G2136R	ENSP00000353393:G2136R	G	-	1	0	F8	153777569	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	6.782000	0.75073	2.370000	0.80446	0.600000	0.82982	GGA	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.403	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	C		-		154124375	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154124375	C	T	154124375	3	4	215	1	0	0	0	0	1	0	0	0	5352	690	24	2	697	2	F8	23	154124375	Missense_Mutation	SNP	C	TCGA-SI-AA8B-01A-11D-A387-09	14537612	154124375	1146185	61	17601											
KAZ	23254	genome.wustl.edu	37	chr1	15430617	15430617	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggccactgccctgggcatCcccagtgggaagcacatcct	11	15	0	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:15430617C>T	ENST00000376030.2	+	13	2274	c.1980C>T	c.(1978-1980)atC>atT	p.I660I		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	660	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCCTGGGCATCCCCAGTGGGA	0.632																																																	0								ENSG00000189337						57	43	48					1																	15430617		2203	4300	6503	KAZN	SO:0001819	synonymous_variant	0			-	HGNC	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1980C>T	1.37:g.15430617C>T		Somatic	0	60	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	4	77.78	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP							pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.I660	ENST00000376030.2	37	c.1980	CCDS152.2	1																																																																																			-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.632	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	protein_coding	OTTHUMT00000005690.2	C	NM_001017999	-		15430617	1	no_errors	ENST00000376030	ensembl	human	known	74_37	silent	SNP	1.000	T	T	15430617	C	T	15430617	2	4	216	1	0	0	0	0	0	0	0	1	7990	845	30	2		2	KAZ	1	15430617	Silent	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09		15430617	233820004	1	17602											
UBR4	23352	genome.wustl.edu	37	chr1	19493694	19493694	+	Frame_Shift_Del	DEL	T	T	-													aagaggtagcagtgtccgaaTtacctgtggtgggttcatct							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:19493694delT	ENST00000375254.3	-	29	3958	c.3931delA	c.(3931-3933)attfs	p.I1311fs	UBR4_ENST00000375226.2_Frame_Shift_Del_p.I1311fs|UBR4_ENST00000375267.2_Frame_Shift_Del_p.I1311fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.I1311fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1311					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGTCCGAATTACCTGTGGT	0.478																																																	0								ENSG00000127481						109	106	107					1																	19493694		2203	4300	6503	UBR4	SO:0001589	frameshift_variant	0				HGNC	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3931delA	1.37:g.19493694delT	ENSP00000364403:p.Ile1311fs	Somatic	0	50	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Del	DEL							superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.I1311fs	ENST00000375254.3	37	c.3931	CCDS189.1	1																																																																																			-	superfamily_ARM-type_fold		0.478	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	protein_coding	OTTHUMT00000007085.1	T	NM_020765			19493694	-1	no_errors	ENST00000375267	ensembl	human	known	74_37	frame_shift_del	DEL	0.967	-	-	19493694	T	-	19493694	7	5	216	1	0	1	0	1	0	0	0	0	16911	1493	52	0	11932	0	UBR4	1	19493694	Frame_Shift_Del	DEL	T	TCGA-SI-AA8C-01A-11D-A387-09	4063077	19493694	229756927	2	17603											
SLFNL1	200172	genome.wustl.edu	37	chr1	41483596	41483596	+	Frame_Shift_Del	DEL	C	C	-													cccgcttgaactccatattgCgggtctcgctgcccaggaag							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:41483596delC	ENST00000359345.1	-	2	3244	c.668delG	c.(667-669)cgcfs	p.R223fs	SLFNL1_ENST00000302946.8_Frame_Shift_Del_p.R223fs|SLFNL1_ENST00000372613.2_Frame_Shift_Del_p.R223fs|SLFNL1_ENST00000439569.2_Frame_Shift_Del_p.R223fs|SLFNL1_ENST00000372611.1_Frame_Shift_Del_p.R164fs|SLFNL1_ENST00000397197.2_Frame_Shift_Del_p.R223fs	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	223							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)				CTCCATATTGCGGGTCTCGCT	0.662																																																	0								ENSG00000171790						41	35	37					1																	41483596		2203	4300	6503	SLFNL1	SO:0001589	frameshift_variant	0				HGNC	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.668delG	1.37:g.41483596delC	ENSP00000352299:p.Arg223fs	Somatic	0	59	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Frame_Shift_Del	DEL							pfam_ATPase_AAA-4	p.R223fs	ENST00000359345.1	37	c.668	CCDS460.1	1																																																																																			-	pfam_ATPase_AAA-4		0.662	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	protein_coding	OTTHUMT00000015650.1	C	NM_144990			41483596	-1	no_errors	ENST00000302946	ensembl	human	known	74_37	frame_shift_del	DEL	0.993	-	-	41483596	C	-	41483596	7	5	216	1	0	1	0	1	0	0	0	0	14746	768	27	0	567	0	SLFNL1	1	41483596	Frame_Shift_Del	DEL	C	TCGA-SI-AA8C-01A-11D-A387-09	21989902	41483596	207767025	3	17604											
GBP5	115362	genome.wustl.edu	37	chr1	89734500	89734500	+	Frame_Shift_Del	DEL	C	C	-													gcacacaccatatccaaattCccttggtgtgagactgcacc							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:89734500delC	ENST00000370459.3	-	3	357	c.230delG	c.(229-231)ggafs	p.G77fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Del_p.G77fs			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	77	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATCCAAATTCCCTTGGTGTG	0.488																																																	0								ENSG00000154451						109	97	101					1																	89734500		2203	4300	6503	GBP5	SO:0001589	frameshift_variant	0				HGNC	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.230delG	1.37:g.89734500delC	ENSP00000359488:p.Gly77fs	Somatic	0	53	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B2RCE1|Q86TM5	Frame_Shift_Del	DEL							pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.G77fs	ENST00000370459.3	37	c.230	CCDS722.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.488	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	protein_coding	OTTHUMT00000027700.1	C	NM_052942			89734500	-1	no_errors	ENST00000343435	ensembl	human	known	74_37	frame_shift_del	DEL	0.992	-	-	89734500	C	-	89734500	7	5	216	1	0	1	0	1	0	0	0	0	6279	855	30	0	1566	0	GBP5	1	89734500	Frame_Shift_Del	DEL	C	TCGA-SI-AA8C-01A-11D-A387-09	48250904	89734500	159516121	4	17605											
HMGCS2	3158	genome.wustl.edu	37	chr1	120306940	120306940	+	Frame_Shift_Del	DEL	G	G	-													agcactgttttgacagctttGgacttgtcaatgatggtctc							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:120306940delG	ENST00000369406.3	-	2	463	c.414delC	c.(412-414)tccfs	p.S138fs	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Frame_Shift_Del_p.S138fs	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	138					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGACAGCTTTGGACTTGTCAA	0.527																																																	0								ENSG00000134240						105	100	101					1																	120306940		2203	4300	6503	HMGCS2	SO:0001589	frameshift_variant	0				HGNC	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.414delC	1.37:g.120306940delG	ENSP00000358414:p.Ser138fs	Somatic	0	61	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Frame_Shift_Del	DEL							pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.A140fs	ENST00000369406.3	37	c.414	CCDS905.1	1																																																																																			-	pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk		0.527	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	protein_coding	OTTHUMT00000033469.2	G	NM_005518			120306940	-1	no_errors	ENST00000369406	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	120306940	G	-	120306940	7	5	216	1	0	1	0	1	0	0	0	0	7235	1335	47	0	1144	0	HMGCS2	1	120306940	Frame_Shift_Del	DEL	G	TCGA-SI-AA8C-01A-11D-A387-09	30572440	120306940	128943681	5	17606											
NME7	29922	genome.wustl.edu	37	chr1	169292501	169292501	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtccgctttaaaaaggtGcgatgattctttacatcatg	9	7	2	1	rs201299047		TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:169292501G>T	ENST00000367811.3	-	3	388	c.132C>A	c.(130-132)cgC>cgA	p.R44R	NME7_ENST00000472647.1_Silent_p.R8R|NME7_ENST00000469474.1_5'UTR|RP4-800F24.1_ENST00000432081.1_RNA	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	44	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TTAAAAAGGTGCGATGATTCT	0.318																																																	0								ENSG00000143156						146	155	152					1																	169292501		2203	4300	6503	NME7	SO:0001819	synonymous_variant	0			-	HGNC	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.132C>A	1.37:g.169292501G>T		Somatic	0	40	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP							pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.R44	ENST00000367811.3	37	c.132	CCDS1277.1	1																																																																																			-	smart_Uncharacterised_DM10,pirsf_NDK7		0.318	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	protein_coding	OTTHUMT00000083688.1	G	NM_013330	-		169292501	-1	no_errors	ENST00000367811	ensembl	human	known	74_37	silent	SNP	0.000	T	T	169292501	G	T	169292501	2	4	216	1	0	0	0	0	0	0	0	1	10498	1306	46	3		3	NME7	1	169292501	Silent	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	48985561	169292501	79958120	6	17607											
RABGAP1L	9910	genome.wustl.edu	37	chr1	174652688	174652688	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtatgatgaagacattgGgtactgtcaagggcagtctt	13	5	2	3			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr1:174652688G>C	ENST00000251507.4	+	15	2027	c.1853G>C	c.(1852-1854)gGg>gCg	p.G618A		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAAGACATTGGGTACTGTCAA	0.368																																																	0								ENSG00000152061						231	205	214					1																	174652688		2203	4300	6503	RABGAP1L	SO:0001583	missense	0			-	HGNC	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1853G>C	1.37:g.174652688G>C	ENSP00000251507:p.Gly618Ala	Somatic	0	145	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	80	8.05	B7ZAA4	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.G618A	ENST00000251507.4	37	c.1853	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638387	0.87760	.	.	ENSG00000152061	ENST00000251507;ENST00000367692	T	0.10860	2.83	5.42	5.42	0.78866	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65409	-0.6175	10	0.87932	D	0	.	18.3433	0.90313	0.0:0.0:1.0:0.0	.	618	Q5R372	RBG1L_HUMAN	A	618;630	ENSP00000251507:G618A	ENSP00000251507:G618A	G	+	2	0	RABGAP1L	172919311	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	8.805000	0.91925	2.687000	0.91594	0.655000	0.94253	GGG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.368	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	protein_coding	OTTHUMT00000084497.1	G	NM_001243765	-		174652688	1	no_errors	ENST00000251507	ensembl	human	known	74_37	missense	SNP	1.000	C	C	174652688	G	C	174652688	3	2	216	1	0	0	0	0	1	0	0	0	12973	1232	43	4	1907	4	RABGAP1L	1	174652688	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	5360187	174652688	74597933	7	17608											
TTN	7273	genome.wustl.edu	37	chr2	179416365	179416365	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataatcacttacctactggaGaaacagctaaggtaaatttg	7	7	1	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr2:179416365G>T	ENST00000591111.1	-	285	86563	c.86339C>A	c.(86338-86340)tCt>tAt	p.S28780Y	TTN_ENST00000460472.2_Missense_Mutation_p.S21356Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21548Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21481Y|TTN_ENST00000589042.1_Missense_Mutation_p.S30421Y|TTN_ENST00000342992.6_Missense_Mutation_p.S27853Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28780	Fibronectin type-III 109. {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)			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)			ACCTACTGGAGAAACAGCTAA	0.368																																																	0								ENSG00000155657						61	56	58					2																	179416365		1841	4085	5926	TTN	SO:0001583	missense	0			-	HGNC	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.86339C>A	2.37:g.179416365G>T	ENSP00000465570:p.Ser28780Tyr	Somatic	0	78	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S27853Y	ENST00000591111.1	37	c.83558		2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015888	0.54468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.75	5.75	0.90469	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66752	0.2821	L	0.38649	1.16	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	0.68127	-0.5491	9	0.87932	D	0	.	19.94	0.97155	0.0:0.0:1.0:0.0	.	21356;21481;21548;28780	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	27853;21356;21548;21481;21353	ENSP00000343764:S27853Y;ENSP00000434586:S21356Y;ENSP00000340554:S21548Y;ENSP00000352154:S21481Y	ENSP00000340554:S21548Y	S	-	2	0	TTN	179124611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.922000	0.87538	2.721000	0.93114	0.650000	0.86243	TCT	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179416365	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179416365	G	T	179416365	3	4	216	1	0	0	0	0	1	0	0	0	16742	942	33	3	16829	3	TTN	2	179416365	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09		179416365	63783008	8	17609											
CPNE9	151835	genome.wustl.edu	37	chr3	9771323	9771323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccagagacatccagcctCggcccccaccccctgccaac	7	22	0	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr3:9771323C>T	ENST00000383832.3	+	21	1799	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	BRPF1_ENST00000302054.3_5'Flank|BRPF1_ENST00000424362.1_5'Flank|BRPF1_ENST00000383829.2_5'Flank|BRPF1_ENST00000433861.2_5'Flank	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	537	Poly-Pro.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CATCCAGCCTCGGCCCCCACC	0.632																																																	0								ENSG00000144550						42	51	48					3																	9771323		2082	4211	6293	CPNE9	SO:0001583	missense	0			-	HGNC		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1609C>T	3.37:g.9771323C>T	ENSP00000373343:p.Arg537Trp	Somatic	0	89	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	33	52.86	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R537W	ENST00000383832.3	37	c.1609	CCDS2574.2	3	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901013	0.52227	.	.	ENSG00000144550	ENST00000383832	T	0.06768	3.26	5.22	4.29	0.51040	.	0.157190	0.40728	U	0.001040	T	0.23133	0.0559	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	P	0.56648	0.803	T	0.01133	-1.1441	10	0.72032	D	0.01	-0.1584	13.3114	0.60382	0.1588:0.8412:0.0:0.0	.	537	Q8IYJ1	CPNE9_HUMAN	W	537	ENSP00000373343:R537W	ENSP00000373343:R537W	R	+	1	2	CPNE9	9746323	0.465000	0.25815	0.998000	0.56505	0.834000	0.47266	1.176000	0.31957	2.395000	0.81488	0.655000	0.94253	CGG	-	NULL		0.632	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE9	protein_coding	OTTHUMT00000250205.4	C	NM_001033755	-		9771323	1	no_errors	ENST00000383832	ensembl	human	known	74_37	missense	SNP	0.998	T	T	9771323	C	T	9771323	3	4	216	1	0	0	0	0	1	0	0	0	3821	875	31	1	1687	1	CPNE9	3	9771323	Missense_Mutation	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09		9771323	188251107	9	17610											
DGKG	1608	genome.wustl.edu	37	chr3	186015929	186015929	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgggcttctggctgaaGgccaggaagaggtgagtgct	17	7	2	3			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr3:186015929G>T	ENST00000265022.3	-	4	773	c.234C>A	c.(232-234)gcC>gcA	p.A78A	DGKG_ENST00000382164.4_Silent_p.A78A|DGKG_ENST00000344484.4_Silent_p.A78A|DGKG_ENST00000544847.1_Silent_p.A78A	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	78					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCTGGCTGAAGGCCAGGAAGA	0.587																																																	0								ENSG00000058866						109	107	107					3																	186015929		2203	4300	6503	DGKG	SO:0001819	synonymous_variant	0			-	HGNC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.234C>A	3.37:g.186015929G>T		Somatic	0	90	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A78	ENST00000265022.3	37	c.234	CCDS3274.1	3																																																																																			-	NULL		0.587	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	protein_coding	OTTHUMT00000344800.3	G		-		186015929	-1	no_errors	ENST00000265022	ensembl	human	known	74_37	silent	SNP	1.000	T	T	186015929	G	T	186015929	2	4	216	1	0	0	0	0	0	0	0	1	4471	987	35	3		3	DGKG	3	186015929	Silent	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	176244606	186015929	12006501	10	17611											
USP46	64854	genome.wustl.edu	37	chr4	53492298	53492298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttcatgttgccattttTtaattttccattttgttttt	4	6	1	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr4:53492298T>C	ENST00000441222.3	-	4	632	c.448A>G	c.(448-450)Aaa>Gaa	p.K150E	USP46_ENST00000451218.2_Missense_Mutation_p.K123E|USP46_ENST00000508499.1_Missense_Mutation_p.K143E	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	150	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTGCCATTTTTTAATTTTCCA	0.383																																																	0								ENSG00000109189						137	124	128					4																	53492298		1821	4085	5906	USP46	SO:0001583	missense	0			-	HGNC	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.448A>G	4.37:g.53492298T>C	ENSP00000407818:p.Lys150Glu	Somatic	0	209	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	79	41.48	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.K150E	ENST00000441222.3	37	c.448	CCDS47053.1	4	.	.	.	.	.	.	.	.	.	.	T	1.078	-0.667891	0.03428	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.23754	1.97;1.89;1.97	5.0	2.45	0.29901	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.317275	0.26963	N	0.021614	T	0.12305	0.0299	N	0.05199	-0.095	0.52501	D	0.999954	B;B;B;B	0.19445	0.014;0.0;0.036;0.002	B;B;B;B	0.32149	0.039;0.004;0.141;0.014	T	0.12344	-1.0551	10	0.06625	T	0.88	-21.2475	11.5578	0.50759	0.0:0.0:0.4443:0.5557	.	34;138;150;143	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	E	150;123;143	ENSP00000407818:K150E;ENSP00000390102:K123E;ENSP00000423244:K143E	ENSP00000407818:K150E	K	-	1	0	USP46	53187055	1.000000	0.71417	0.987000	0.45799	0.017000	0.09413	2.537000	0.45702	0.303000	0.22785	-0.321000	0.08615	AAA	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.383	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	protein_coding	OTTHUMT00000361516.2	T	NM_022832	-		53492298	-1	no_errors	ENST00000441222	ensembl	human	known	74_37	missense	SNP	1.000	C	C	53492298	T	C	53492298	3	2	216	1	0	0	0	0	1	0	0	0	17084	1850	64	5	676	5	USP46	4	53492298	Missense_Mutation	SNP	T	TCGA-SI-AA8C-01A-11D-A387-09		53492298	137661978	11	17612											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530097	140530097	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccatgatttactgctaaatGaaaaactggaccgggaggag	11	8	0	2			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr5:140530097G>T	ENST00000231136.1	+	1	259	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	87	Cadherin 1. {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)			ACTGCTAAATGAAAAACTGGA	0.517																																																	0								ENSG00000113211						75	82	79					5																	140530097		2203	4300	6503	PCDHB6	SO:0001587	stop_gained	0			-	HGNC	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.259G>T	5.37:g.140530097G>T	ENSP00000231136:p.Glu87*	Somatic	0	64	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R8R9	Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E87*	ENST00000231136.1	37	c.259	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445948	0.43429	.	.	ENSG00000113211	ENST00000231136	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.587	0.91194	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000231136:E87X	E	+	1	0	PCDHB6	140510281	0.992000	0.36948	0.858000	0.33744	0.190000	0.23558	4.848000	0.62874	2.454000	0.82982	0.561000	0.74099	GAA	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin		0.517	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	G	NM_018939	-		140530097	1	no_errors	ENST00000231136	ensembl	human	known	74_37	nonsense	SNP	0.982	T	T	140530097	G	T	140530097	4	4	216	1	0	0	0	0	0	1	0	0	11548	1291	45	3	261	3	PCDHB6	5	140530097	Nonsense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09		140530097	40385163	12	17613											
COL11A2	1302	genome.wustl.edu	37	chr6	33147260	33147260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggggtccacggagcGccagctaggggagcaggggg	22	10	0	0	rs143965711		TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr6:33147260G>A	ENST00000374708.4	-	12	1451	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V	COL11A2_ENST00000374712.1_Missense_Mutation_p.A403V|COL11A2_ENST00000357486.1_Missense_Mutation_p.A463V|COL11A2_ENST00000341947.2_Missense_Mutation_p.A484V|COL11A2_ENST00000374713.1_Missense_Mutation_p.A437V|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000395197.1_Missense_Mutation_p.A424V|COL11A2_ENST00000374714.1_Missense_Mutation_p.A458V|COL11A2_ENST00000361917.1_Missense_Mutation_p.A377V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	484	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)			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						TCCACGGAGCGCCAGCTAGGG	0.632																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248		VAL/ALA,VAL/ALA,VAL/ALA	1,2969		0,1,1484	24	11	16		1130,1451,1193	4.8	1	6	dbSNP_134	16	0,5362		0,0,2681	no	missense,missense,missense	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	64,64,64	0,1,4165	AA,AG,GG		0.0,0.0337,0.012	probably-damaging,probably-damaging,probably-damaging	377/1630,484/1737,398/1651	33147260	1,8331	1485	2681	4166	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.1193C>T	6.37:g.33147260G>A	ENSP00000363840:p.Ala398Val	Somatic	0	77	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.A484V	ENST00000374708.4	37	c.1451	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902925	0.72754	3.37E-4	0.0	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.90788	-2.48;-2.41;-2.44;-2.45;-2.45;-2.44;-2.55;-2.44;-2.73	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.962;0.957;0.995	D	0.95062	0.8196	10	0.87932	D	0	.	15.3205	0.74117	0.0:0.0:1.0:0.0	.	377;398;484	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	398;484;463;458;437;424;403;377;484	ENSP00000363840:A398V;ENSP00000339915:A484V;ENSP00000350079:A463V;ENSP00000363846:A458V;ENSP00000363845:A437V;ENSP00000378623:A424V;ENSP00000363844:A403V;ENSP00000355123:A377V;ENSP00000405520:A484V	ENSP00000339915:A484V	A	-	2	0	COL11A2	33255238	1.000000	0.71417	0.954000	0.39281	0.213000	0.24496	5.939000	0.70179	2.477000	0.83638	0.549000	0.68633	GCG	-	NULL		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	G		rs143965711		33147260	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	0.998	A	A	33147260	G	A	33147260	3	1	216	1	0	0	0	0	1	0	0	0	3670	1087	38	1	3971	1	COL11A2	6	33147260	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09		33147260	137967807	13	17614											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62757794	62757794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcagtaccttagctttatCtctcattgatcctttgccca	5	12	3	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr6:62757794C>G	ENST00000281156.4	-	3	603	c.325G>C	c.(325-327)Gat>Cat	p.D109H		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	109	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.D109Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTAGCTTTATCTCTCATTGAT	0.408																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000112232						197	188	191					6																	62757794		2203	4300	6503	KHDRBS2	SO:0001583	missense	0			-	HGNC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.325G>C	6.37:g.62757794C>G	ENSP00000281156:p.Asp109His	Somatic	0	99	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP							pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.D109H	ENST00000281156.4	37	c.325	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850198	0.71719	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.19394	2.15	5.12	4.26	0.50523	K Homology (1);K Homology, type 1 (1);	0.098954	0.64402	D	0.000002	T	0.39708	0.1088	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49153	-0.8969	10	0.87932	D	0	-5.9294	13.7525	0.62917	0.0:0.9255:0.0:0.0745	.	109	Q5VWX1	KHDR2_HUMAN	H	109	ENSP00000281156:D109H	ENSP00000281156:D109H	D	-	1	0	KHDRBS2	62815753	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	1.301000	0.44836	0.460000	0.39030	GAT	-	smart_KH_dom,pfscan_KH_dom_type_1		0.408	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	protein_coding	OTTHUMT00000041066.2	C	NM_152688	-		62757794	-1	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62757794	C	G	62757794	3	3	216	1	0	0	0	0	1	0	0	0	8149	913	32	4	752	4	KHDRBS2	6	62757794	Missense_Mutation	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09	29610534	62757794	108357273	14	17615											
KIAA1244	57221	genome.wustl.edu	37	chr6	138644891	138644891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaagatgcgttctctgCcacactcaagccagtgaagg	10	13	2	2			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr6:138644891C>T	ENST00000251691.4	+	30	5016	c.4850C>T	c.(4849-4851)gCc>gTc	p.A1617V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGTTCTCTGCCACACTCAAG	0.542																																																	0								ENSG00000112379						110	90	97					6																	138644891		2203	4300	6503	KIAA1244	SO:0001583	missense	0			-	HGNC	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4850C>T	6.37:g.138644891C>T	ENSP00000251691:p.Ala1617Val	Somatic	0	64	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP							pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.A1617V	ENST00000251691.4	37	c.4850	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758645	0.49468	.	.	ENSG00000112379	ENST00000251691	T	0.44482	0.92	5.58	4.72	0.59763	.	0.058985	0.64402	N	0.000002	T	0.16428	0.0395	L	0.32530	0.975	0.58432	D	0.999998	B	0.25390	0.125	B	0.23716	0.048	T	0.05209	-1.0899	10	0.16420	T	0.52	-26.4594	14.5639	0.68162	0.0:0.9298:0.0:0.0702	.	1617	Q5TH69	BIG3_HUMAN	V	1617	ENSP00000251691:A1617V	ENSP00000251691:A1617V	A	+	2	0	KIAA1244	138686584	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.067000	0.57527	1.354000	0.45846	0.557000	0.71058	GCC	-	NULL		0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	protein_coding	OTTHUMT00000042425.4	C	NM_020340	-		138644891	1	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	SNP	1.000	T	T	138644891	C	T	138644891	3	4	216	1	0	0	0	0	1	0	0	0	8219	739	26	2	4968	2	KIAA1244	6	138644891	Missense_Mutation	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09	75887097	138644891	32470176	15	17616											
CPA2	1358	genome.wustl.edu	37	chr7	129919465	129919465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgatgttcccctatgGgtacaaatgtaccaagttag	10	9	0	1	rs150060449		TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr7:129919465G>T	ENST00000222481.4	+	9	1005	c.950G>T	c.(949-951)gGg>gTg	p.G317V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	317					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTCCCCTATGGGTACAAATGT	0.418																																																	0								ENSG00000158516	G	VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	99	87	91		950	4.4	0.1	7	dbSNP_134	91	0,8600		0,0,4300	no	missense	CPA2	NM_001869.2	109	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	317/420	129919465	1,13005	2203	4300	6503	CPA2	SO:0001583	missense	0			-	HGNC	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.950G>T	7.37:g.129919465G>T	ENSP00000222481:p.Gly317Val	Somatic	0	47	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G317V	ENST00000222481.4	37	c.950	CCDS5817.2	7	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019001	0.54576	2.27E-4	0.0	ENSG00000158516	ENST00000222481	T	0.04194	3.68	6.17	4.37	0.52481	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40646	-0.9552	10	0.87932	D	0	.	10.976	0.47467	0.0664:0.0:0.8036:0.13	.	317	P48052	CBPA2_HUMAN	V	317	ENSP00000222481:G317V	ENSP00000222481:G317V	G	+	2	0	CPA2	129706701	1.000000	0.71417	0.125000	0.21846	0.418000	0.31294	6.427000	0.73378	0.934000	0.37316	0.655000	0.94253	GGG	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.418	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA2	protein_coding	OTTHUMT00000347124.2	G	NM_001869	rs150060449		129919465	1	no_errors	ENST00000222481	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129919465	G	T	129919465	3	4	216	1	0	0	0	0	1	0	0	0	3792	1232	43	3	984	3	CPA2	7	129919465	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09		129919465	29219198	16	17617											
MKRN1	23608	genome.wustl.edu	37	chr7	140158957	140158957	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagctgcttctttgtctcCacggcggtttgctctttctc	8	14	4	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr7:140158957C>A	ENST00000255977.2	-	4	845	c.621G>T	c.(619-621)gtG>gtT	p.V207V	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Silent_p.V143V|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000443720.2_Silent_p.V207V	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	207					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCTTTGTCTCCACGGCGGTTT	0.547																																																	0								ENSG00000133606						139	135	137					7																	140158957		2203	4300	6503	MKRN1	SO:0001819	synonymous_variant	0			-	HGNC	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.621G>T	7.37:g.140158957C>A		Somatic	0	57	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP							pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.V207	ENST00000255977.2	37	c.621	CCDS5860.1	7																																																																																			-	NULL		0.547	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN1	protein_coding	OTTHUMT00000348752.1	C	NM_013446	-		140158957	-1	no_errors	ENST00000255977	ensembl	human	known	74_37	silent	SNP	0.935	A	A	140158957	C	A	140158957	2	1	216	1	0	0	0	0	0	0	0	1	9608	581	21	3		3	MKRN1	7	140158957	Silent	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09	10239492	140158957	18979706	17	17618											
PAXIP1	22976	genome.wustl.edu	37	chr7	154752762	154752762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtatcctccactctttggCtttttcatactttaaaccag	6	11	2	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr7:154752762C>T	ENST00000404141.1	-	12	2429	c.2275G>A	c.(2275-2277)Gcc>Acc	p.A759T	PAXIP1_ENST00000397192.1_Missense_Mutation_p.A759T|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	759	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CACTCTTTGGCTTTTTCATAC	0.393																																																	0								ENSG00000157212						80	77	78					7																	154752762		1864	4091	5955	PAXIP1	SO:0001583	missense	0			-	HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2275G>A	7.37:g.154752762C>T	ENSP00000384048:p.Ala759Thr	Somatic	0	111	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP							pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A759T	ENST00000404141.1	37	c.2275	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841079	0.91197	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	D;D	0.97455	-4.39;-4.39	5.51	5.51	0.81932	BRCT (3);	0.000000	0.56097	U	0.000040	D	0.98495	0.9498	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.99521	1.0958	10	0.87932	D	0	-23.208	19.4545	0.94882	0.0:1.0:0.0:0.0	.	712;725;759	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	T	759;759;583;712	ENSP00000384048:A759T;ENSP00000380376:A759T	ENSP00000319149:A712T	A	-	1	0	PAXIP1	154383695	1.000000	0.71417	0.986000	0.45419	0.925000	0.55904	7.525000	0.81892	2.590000	0.87494	0.650000	0.86243	GCC	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.393	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	C	NM_007349	-		154752762	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	SNP	1.000	T	T	154752762	C	T	154752762	3	4	216	1	0	0	0	0	1	0	0	0	11489	797	28	2	974	2	PAXIP1	7	154752762	Missense_Mutation	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09	14593805	154752762	4385901	18	17619											
DLGAP2	9228	genome.wustl.edu	37	chr8	1497797	1497797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgaacctggacaagcCgctgctgcaccaggacgcca	11	16	0	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr8:1497797C>T	ENST00000421627.2	+	2	1072	c.938C>T	c.(937-939)cCg>cTg	p.P313L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	392					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGGACAAGCCGCTGCTGCAC	0.672																																																	0								ENSG00000198010						6	7	7					8																	1497797		2027	4092	6119	DLGAP2	SO:0001583	missense	0			-	HGNC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.938C>T	8.37:g.1497797C>T	ENSP00000400258:p.Pro313Leu	Somatic	0	73	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	54	11.48	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP							pfam_GKAP	p.P313L	ENST00000421627.2	37	c.938	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.977761|3.977761	0.74360|0.74360	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.13307|.	2.6|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78792|0.78792	0.4339|0.4339	M|M	0.80028|0.80028	2.48|2.48	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.71674|.	0.998;0.997|.	P;P|.	0.57776|.	0.827;0.676|.	T|T	0.79654|0.79654	-0.1713|-0.1713	10|5	0.72032|.	D|.	0.01|.	-14.1979|-14.1979	18.9482|18.9482	0.92630|0.92630	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392;392|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|C	358;313|330	ENSP00000400258:P313L|.	ENSP00000348366:P358L|.	P|R	+|+	2|1	0|0	DLGAP2|DLGAP2	1485204|1485204	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.538000|0.538000	0.34931|0.34931	7.052000|7.052000	0.76634|0.76634	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	CCG|CGC	-	NULL		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	protein_coding	OTTHUMT00000374478.1	C	NM_004745	-		1497797	1	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	SNP	0.999	T	T	1497797	C	T	1497797	3	4	216	1	0	0	0	0	1	0	0	0	4562	652	23	1	940	1	DLGAP2	8	1497797	Missense_Mutation	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09		1497797	144866225	19	17620											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110457290	110457290	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatcttctaatacatggagTgcctgcccagtgccagggaa	11	10	2	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr8:110457290T>A	ENST00000378402.5	+	38	5296	c.5192T>A	c.(5191-5193)gTg>gAg	p.V1731E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1731	IPT/TIG 9.				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)			ATACATGGAGTGCCTGCCCAG	0.433										HNSCC(38;0.096)																																							0								ENSG00000205038						170	164	166					8																	110457290		1924	4142	6066	PKHD1L1	SO:0001583	missense	0			-	HGNC	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.5192T>A	8.37:g.110457290T>A	ENSP00000367655:p.Val1731Glu	Somatic	0	66	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q567P2|Q9UF27	Missense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.V1731E	ENST00000378402.5	37	c.5192	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753855	0.69648	.	.	ENSG00000205038	ENST00000378402	T	0.74106	-0.81	6.17	5.0	0.66597	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.078312	0.52532	D	0.000061	T	0.78604	0.4309	L	0.60455	1.87	0.27804	N	0.942394	P	0.48016	0.904	P	0.53549	0.729	T	0.73626	-0.3923	10	0.66056	D	0.02	.	10.9899	0.47543	0.1398:0.0:0.0:0.8602	.	1731	Q86WI1	PKHL1_HUMAN	E	1731	ENSP00000367655:V1731E	ENSP00000367655:V1731E	V	+	2	0	PKHD1L1	110526466	0.945000	0.32115	1.000000	0.80357	0.998000	0.95712	1.955000	0.40372	1.113000	0.41760	0.533000	0.62120	GTG	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	T	NM_177531	-		110457290	1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110457290	T	A	110457290	3	1	216	1	0	0	0	0	1	0	0	0	11974	1696	59	5	5342	5	PKHD1L1	8	110457290	Missense_Mutation	SNP	T	TCGA-SI-AA8C-01A-11D-A387-09	108959493	110457290	35906732	20	17621											
MYC	4609	genome.wustl.edu	37	chr8	128750604	128750605	+	In_Frame_Ins	INS	-	-	CAG													acgaggaggagaacttctacINScagcagcagcagcagagcga							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr8:128750604_128750605insCAG	ENST00000259523.6	+	2	1301_1302	c.96_97insCAG	c.(97-99)cag>CAGcag	p.33_33Q>QQ	MYC_ENST00000377970.2_In_Frame_Ins_p.48_48Q>QQ|MYC_ENST00000524013.1_In_Frame_Ins_p.47_47Q>QQ			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	33	Poly-Gln.				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)	AGAACTTCTACCAGCAGCAGCA	0.614		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)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0								ENSG00000136997			1,4263		0,1,2131						4.2	1			46	2,8252		0,2,4125	no	coding	MYC	NM_002467.4		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				MYC	SO:0001652	inframe_insertion	0				HGNC		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.109_111dupCAG	8.37:g.128750611_128750613dupCAG	ENSP00000259523:p.Gln37dup	Somatic	0	102	0	1567	0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00	A8WFE7|P01107|Q14026	In_Frame_Ins	INS							pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.51in_frame_insQ	ENST00000259523.6	37	c.141_142		8																																																																																			-	pfam_Tscrpt_reg_Myc_N		0.614	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	protein_coding	OTTHUMT00000250278.1	-				128750605	1	no_errors	ENST00000377970	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	CAG	CAG	128750605	-	CAG	128750604	7	5	216	1	0	1	1	0	0	0	0	0	10018	518	18	0	147	0	MYC	8	128750604	In_Frame_Ins	INS	-	TCGA-SI-AA8C-01A-11D-A387-09	18293314	128750604	17613418	21	17622											
KIAA1217	56243	genome.wustl.edu	37	chr10	24813274	24813274	+	Frame_Shift_Del	DEL	A	A	-													atgtcactgatgggctcctgAaaggcacggacgcagcccaa							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr10:24813274delA	ENST00000376454.3	+	13	2509	c.2479delA	c.(2479-2481)aaafs	p.K827fs	KIAA1217_ENST00000307544.6_Frame_Shift_Del_p.K510fs|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.K510fs|KIAA1217_ENST00000396445.1_Frame_Shift_Del_p.K510fs|KIAA1217_ENST00000458595.1_Frame_Shift_Del_p.K792fs|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Frame_Shift_Del_p.K510fs|KIAA1217_ENST00000376452.3_Frame_Shift_Del_p.K792fs|KIAA1217_ENST00000376462.1_Frame_Shift_Del_p.K747fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	827					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						TGGGCTCCTGAAAGGCACGGA	0.557																																																	0								ENSG00000120549						76	77	77					10																	24813274		2203	4300	6503	KIAA1217	SO:0001589	frameshift_variant	0				HGNC	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.2479delA	10.37:g.24813274delA	ENSP00000365637:p.Lys827fs	Somatic	0	65	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL							pfam_AIP3_C	p.G828fs	ENST00000376454.3	37	c.2479	CCDS31165.1	10																																																																																			-	NULL		0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	A	NM_019590			24813274	1	no_errors	ENST00000376454	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	24813274	A	-	24813274	7	5	216	1	0	1	0	1	0	0	0	0	8218	247	9	0	2529	0	KIAA1217	10	24813274	Frame_Shift_Del	DEL	A	TCGA-SI-AA8C-01A-11D-A387-09		24813274	110721473	22	17623											
FRMPD2	143162	genome.wustl.edu	37	chr10	49414887	49414887	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actatgacacccttggcacaGatccccagggccatctcctc	7	17	1	2			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr10:49414887G>T	ENST00000374201.3	-	14	2003	c.1701C>A	c.(1699-1701)atC>atA	p.I567I	FRMPD2_ENST00000407470.4_Silent_p.I535I|FRMPD2_ENST00000305531.3_Silent_p.I542I	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	567	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTTGGCACAGATCCCCAGGG	0.483																																																	0								ENSG00000170324						127	115	119					10																	49414887		2203	4300	6503	FRMPD2	SO:0001819	synonymous_variant	0			-	HGNC	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1701C>A	10.37:g.49414887G>T		Somatic	0	106	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	23.26	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP							pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I567	ENST00000374201.3	37	c.1701	CCDS31195.1	10																																																																																			-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.483	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	G	NM_152428	-		49414887	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	SNP	0.998	T	T	49414887	G	T	49414887	2	4	216	1	0	0	0	0	0	0	0	1	6060	932	33	3		3	FRMPD2	10	49414887	Silent	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	24601613	49414887	86119860	23	17624											
NDST2	8509	genome.wustl.edu	37	chr10	75563007	75563007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatagtagccagggacAagacagcggttctgcaggga	15	7	1	2			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr10:75563007A>G	ENST00000309979.6	-	12	2809	c.2253T>C	c.(2251-2253)ctT>ctC	p.L751L	NDST2_ENST00000299641.4_Silent_p.L628L|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Silent_p.L751L			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	751	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGCCAGGGACAAGACAGCGGT	0.552																																																	0								ENSG00000166507						147	150	149					10																	75563007		2203	4300	6503	NDST2	SO:0001819	synonymous_variant	0			-	HGNC	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2253T>C	10.37:g.75563007A>G		Somatic	0	67	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q2TB32|Q59H89	Silent	SNP							pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L751	ENST00000309979.6	37	c.2253	CCDS7335.1	10																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.552	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	protein_coding	OTTHUMT00000048710.1	A	NM_003635	-		75563007	-1	no_errors	ENST00000309979	ensembl	human	known	74_37	silent	SNP	0.016	G	G	75563007	A	G	75563007	2	3	216	1	0	0	0	0	0	0	0	1	10258	117	5	5		5	NDST2	10	75563007	Silent	SNP	A	TCGA-SI-AA8C-01A-11D-A387-09	26148120	75563007	59971740	24	17625											
SEC31B	25956	genome.wustl.edu	37	chr10	102250030	102250030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcccagggaatcccaccggGttaggaacttgcaccctttg	11	13	0	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr10:102250030G>T	ENST00000370345.3	-	21	2797	c.2700C>A	c.(2698-2700)aaC>aaA	p.N900K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	900	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATCCCACCGGGTTAGGAACTT	0.537																																																	0								ENSG00000075826						78	68	71					10																	102250030		2203	4300	6503	SEC31B	SO:0001583	missense	0			-	HGNC	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2700C>A	10.37:g.102250030G>T	ENSP00000359370:p.Asn900Lys	Somatic	0	50	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N900K	ENST00000370345.3	37	c.2700	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998535	0.19121	.	.	ENSG00000075826	ENST00000370345	T	0.50001	0.76	5.51	2.19	0.27852	.	0.851650	0.11013	N	0.609197	T	0.35740	0.0942	M	0.66939	2.045	0.09310	N	0.999995	P;P	0.43094	0.799;0.698	B;B	0.33454	0.164;0.142	T	0.36040	-0.9764	10	0.38643	T	0.18	-6.2545	2.5422	0.04729	0.1052:0.191:0.5057:0.1981	.	899;900	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	K	900	ENSP00000359370:N900K	ENSP00000359370:N900K	N	-	3	2	SEC31B	102240020	0.980000	0.34600	0.085000	0.20634	0.971000	0.66376	0.242000	0.18087	1.295000	0.44724	0.561000	0.74099	AAC	-	NULL		0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	protein_coding	OTTHUMT00000051198.1	G	NM_015490	-		102250030	-1	no_errors	ENST00000370345	ensembl	human	known	74_37	missense	SNP	0.054	T	T	102250030	G	T	102250030	3	4	216	1	0	0	0	0	1	0	0	0	14007	1252	44	3	863	3	SEC31B	10	102250030	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	26687023	102250030	33284717	25	17626											
HS6ST3	266722	genome.wustl.edu	37	chr13	97485014	97485014	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctgctataacttgacTttcatgaacgagagtgaaag	12	6	1	4			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr13:97485014T>A	ENST00000376705.2	+	2	1002	c.978T>A	c.(976-978)acT>acA	p.T326T		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	326					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATAACTTGACTTTCATGAACG	0.502																																																	0								ENSG00000185352						90	90	90					13																	97485014		2203	4300	6503	HS6ST3	SO:0001819	synonymous_variant	0			-	HGNC	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.978T>A	13.37:g.97485014T>A		Somatic	0	64	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	Q5W0L0|Q68CW6	Silent	SNP							pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.T326	ENST00000376705.2	37	c.978	CCDS9481.1	13																																																																																			-	pfam_Sulfotransferase		0.502	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST3	protein_coding	OTTHUMT00000045517.2	T	NM_153456	-		97485014	1	no_errors	ENST00000376705	ensembl	human	known	74_37	silent	SNP	0.934	A	A	97485014	T	A	97485014	2	1	216	1	0	0	0	0	0	0	0	1	7374	1596	56	5		5	HS6ST3	13	97485014	Silent	SNP	T	TCGA-SI-AA8C-01A-11D-A387-09		97485014	17684864	26	17627											
TC2N	123036	genome.wustl.edu	37	chr14	92251630	92251630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccacttgactcttccattgGaggccttcagtaagcgtgtc	9	13	2	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr14:92251630G>T	ENST00000435962.2	-	11	1561	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y	TC2N_ENST00000360594.5_Missense_Mutation_p.S413Y|TC2N_ENST00000556018.1_Missense_Mutation_p.S349Y|TC2N_ENST00000340892.5_Missense_Mutation_p.S413Y	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	413	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCTTCCATTGGAGGCCTTCAG	0.358																																																	0								ENSG00000165929						186	204	198					14																	92251630		2203	4299	6502	TC2N	SO:0001583	missense	0			-	HGNC	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"C2 calcium-dependent domain containing 1"		"chromosome 14 open reading frame 47", "membrane targeting (tandem) C2 domain containing 1"	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1238C>A	14.37:g.92251630G>T	ENSP00000387882:p.Ser413Tyr	Somatic	0	64	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30		Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S413Y	ENST00000435962.2	37	c.1238	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169855	0.78452	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.297002	0.37530	N	0.002057	T	0.73401	0.3582	N	0.14661	0.345	0.32490	N	0.540285	D;P	0.64830	0.994;0.773	D;P	0.65233	0.933;0.678	T	0.79727	-0.1682	10	0.87932	D	0	-7.0666	19.3998	0.94623	0.0:0.0:1.0:0.0	.	349;413	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	Y	413;413;413;349;165	ENSP00000387882:S413Y;ENSP00000343199:S413Y;ENSP00000353802:S413Y;ENSP00000451317:S349Y;ENSP00000450922:S165Y	ENSP00000343199:S413Y	S	-	2	0	TC2N	91321383	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	4.165000	0.58196	2.586000	0.87340	0.655000	0.94253	TCC	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.358	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	protein_coding	OTTHUMT00000411778.1	G	NM_152332	-		92251630	-1	no_errors	ENST00000340892	ensembl	human	known	74_37	missense	SNP	1.000	T	T	92251630	G	T	92251630	3	4	216	1	0	0	0	0	1	0	0	0	15672	1174	41	3	242	3	TC2N	14	92251630	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09		92251630	15097910	27	17628											
EVL	51466	genome.wustl.edu	37	chr14	100595978	100595978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagcagcgggggtggcGgaggaggcctcatggaggaa	22	7	1	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr14:100595978G>A	ENST00000402714.2	+	7	1394	c.790G>A	c.(790-792)Gga>Aga	p.G264R	EVL_ENST00000544450.2_Missense_Mutation_p.G270R|EVL_ENST00000392920.3_Missense_Mutation_p.G266R			Q9UI08	EVL_HUMAN	Enah/Vasp-like	264	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CGGGGGTGGCGGAGGAGGCCT	0.622																																																	0								ENSG00000196405						44	41	42					14																	100595978		2202	4299	6501	EVL	SO:0001583	missense	0			-	HGNC	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.790G>A	14.37:g.100595978G>A	ENSP00000384720:p.Gly264Arg	Somatic	0	52	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP							pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1	p.G266R	ENST00000402714.2	37	c.796		14	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939494	0.73557	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000557384;ENST00000554695	T;T;T;T	0.76578	-1.0;-1.03;-1.0;0.34	5.24	4.35	0.52113	.	0.368082	0.27876	N	0.017491	D	0.85982	0.5824	M	0.87547	2.89	0.38658	D	0.952009	D;D;D	0.65815	0.995;0.995;0.992	P;P;P	0.57720	0.739;0.826;0.674	D	0.88718	0.3227	10	0.66056	D	0.02	-19.3173	10.8189	0.46593	0.1477:0.0:0.8523:0.0	.	270;266;264	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	R	264;270;266;229;160;81	ENSP00000384720:G264R;ENSP00000437904:G270R;ENSP00000376652:G266R;ENSP00000450979:G160R	ENSP00000376652:G266R	G	+	1	0	EVL	99665731	1.000000	0.71417	0.907000	0.35723	0.593000	0.36681	4.471000	0.60182	2.445000	0.82738	0.655000	0.94253	GGA	-	pirsf_Vasodilator_phosphoprotein		0.622	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	protein_coding	OTTHUMT00000413958.1	G		-		100595978	1	no_errors	ENST00000392920	ensembl	human	known	74_37	missense	SNP	0.985	A	A	100595978	G	A	100595978	3	1	216	1	0	0	0	0	1	0	0	0	5293	1117	39	1	822	1	EVL	14	100595978	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	8344348	100595978	6753562	28	17629											
NTHL1	7249	genome.wustl.edu	37	chr16	2096132	2096133	+	5'Flank	INS	-	-	G													tggggcccctgcctacctttINSgggggggcactggagtcata							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr16:2096132_2096133insG	ENST00000219476.3	+	0	0				TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000219066.1_Frame_Shift_Ins_p.P125fs|TSC2_ENST00000353929.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000350773.4_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCCTACCTTTGGGGGGGCACT	0.579			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0								ENSG00000065057																																			NTHL1	SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease		HGNC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096139_2096139dupG	Exception_encountered	Somatic	0	65	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Ins	INS							pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.V127fs	ENST00000219476.3	37	c.375_374	CCDS10458.1	16																																																																																			-	superfamily_DNA_glycosylase		0.579	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	protein_coding	OTTHUMT00000250657.2	-	NM_000548			2096133	-1	no_errors	ENST00000219066	ensembl	human	known	74_37	frame_shift_ins	INS	0.794:1.000	G	G	2096133	-	G	2096132	6	5	216	0	1	1	1	0	0	0	0	0	10700	1799	63	0		0	NTHL1	16	2096132	5'Flank	INS	-	TCGA-SI-AA8C-01A-11D-A387-09		2096132	88258621	29	17630											
SUZ12	23512	genome.wustl.edu	37	chr17	30322708	30322732	+	Frame_Shift_Del	DEL	TCCGTCCACAAGAAATGGAAGTAGA	TCCGTCCACAAGAAATGGAAGTAGA	-													tagtgatacctgcttacctcTccgtccacaagaaatggaag							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	TCCGTCCACAAGAAATGGAAGTAGA	TCCGTCCACAAGAAATGGAAGTAGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr17:30322708_30322732delTCCGTCCACAAGAAATGGAAGTAGA	ENST00000322652.5	+	14	1950_1974	c.1721_1745delTCCGTCCACAAGAAATGGAAGTAGA	c.(1720-1746)ctccgtccacaagaaatggaagtagatfs	p.LRPQEMEVD574fs	SUZ12_ENST00000580398.1_Frame_Shift_Del_p.LRPQEMEVD551fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	574	VEFS-box.				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)				TGCTTACCTCTCCGTCCACAAGAAATGGAAGTAGATAGTGAAGAT	0.342			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0								ENSG00000178691																																			SUZ12	SO:0001589	frameshift_variant	0				HGNC	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.1721_1745delTCCGTCCACAAGAAATGGAAGTAGA	17.37:g.30322708_30322732delTCCGTCCACAAGAAATGGAAGTAGA	ENSP00000316578:p.Leu574fs	Somatic					0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q96BD9	Frame_Shift_Del	DEL							pfam_Polycomb_protein_VEFS-Box	p.R575fs	ENST00000322652.5	37	c.1721_1745	CCDS11270.1	17																																																																																			-	pfam_Polycomb_protein_VEFS-Box		0.342	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	protein_coding	OTTHUMT00000256260.2	TCCGTCCACAAGAAATGGAAGTAGA	NM_015355			30322732	1	no_errors	ENST00000322652	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.999:1.000:1.000:0.967:1.000:1.000:0.973:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	30322732	TCCGTCCACAAGAAATGGAAGTAGA	-	30322708	7	5	216	1	0	1	0	1	0	0	0	0	15423	1551	54	0	1775	0	SUZ12	17	30322708	Frame_Shift_Del	DEL	TCCGTCCACAAGAAATGGAAGTAGA	TCGA-SI-AA8C-01A-11D-A387-09		30322708	50872502	30	17631											
FZD2	2535	genome.wustl.edu	37	chr17	42636593	42636593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcgcactacacgccgCgcatgtcgcccgacttcacg	11	19	1	0			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr17:42636593C>T	ENST00000315323.3	+	1	1669	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	513					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|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)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACACGCCGCGCATGTCGCC	0.627																																																	0								ENSG00000180340						42	39	40					17																	42636593		2203	4300	6503	FZD2	SO:0001583	missense	0			-	HGNC	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1537C>T	17.37:g.42636593C>T	ENSP00000323901:p.Arg513Cys	Somatic	0	103	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	Q0VG82	Missense_Mutation	SNP							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R513C	ENST00000315323.3	37	c.1537	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	c	18.76	3.692883	0.68271	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82255	-1.59	5.0	3.97	0.46021	GPCR, family 2-like (1);	0.172114	0.52532	D	0.000067	T	0.78691	0.4323	M	0.66297	2.02	0.51482	D	0.99992	P	0.34629	0.46	B	0.26202	0.067	T	0.79557	-0.1754	10	0.39692	T	0.17	.	13.8394	0.63430	0.1537:0.8463:0.0:0.0	.	513	Q14332	FZD2_HUMAN	C	589;513	ENSP00000323901:R513C	ENSP00000323901:R513C	R	+	1	0	FZD2	39992119	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.431000	0.44775	2.325000	0.78763	0.555000	0.69702	CGC	-	pfam_Frizzled,pfscan_GPCR_2-like		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	protein_coding	OTTHUMT00000457806.1	C	NM_001466	-		42636593	1	no_errors	ENST00000315323	ensembl	human	known	74_37	missense	SNP	1.000	T	T	42636593	C	T	42636593	3	4	216	1	0	0	0	0	1	0	0	0	6132	768	27	1	1539	1	FZD2	17	42636593	Missense_Mutation	SNP	C	TCGA-SI-AA8C-01A-11D-A387-09	12313885	42636593	38558617	31	17632											
TYK2	7297	genome.wustl.edu	37	chr19	10477123	10477123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccacctcctccagggggAtgccatggcggagagcgagg	17	12	0	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr19:10477123A>G	ENST00000525621.1	-	6	1080	c.599T>C	c.(598-600)aTc>aCc	p.I200T	TYK2_ENST00000264818.6_Missense_Mutation_p.I200T|TYK2_ENST00000524462.1_Missense_Mutation_p.I15T|TYK2_ENST00000529370.1_Missense_Mutation_p.I200T	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCCAGGGGGATGCCATGGCG	0.607																																																	0								ENSG00000105397						94	86	89					19																	10477123		2203	4300	6503	TYK2	SO:0001583	missense	0			-	HGNC		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.599T>C	19.37:g.10477123A>G	ENSP00000431885:p.Ile200Thr	Somatic	0	46	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q6QB10|Q96CH0	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.I200T	ENST00000525621.1	37	c.599	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844139	0.16963	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	T;T;T;T	0.75154	-0.91;0.95;0.95;0.95	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.510102	0.15582	N	0.254823	T	0.61664	0.2365	L	0.34521	1.04	0.23260	N	0.99802	B;B	0.31769	0.339;0.061	B;B	0.24701	0.055;0.044	T	0.50224	-0.8853	10	0.21540	T	0.41	-38.9989	12.9524	0.58409	1.0:0.0:0.0:0.0	.	200;200	E9PPF2;P29597	.;TYK2_HUMAN	T	15;200;200;200	ENSP00000433203:I15T;ENSP00000431885:I200T;ENSP00000264818:I200T;ENSP00000432728:I200T	ENSP00000264818:I200T	I	-	2	0	TYK2	10338123	0.002000	0.14202	0.933000	0.37362	0.262000	0.26303	1.690000	0.37711	1.943000	0.56356	0.460000	0.39030	ATC	-	superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	protein_coding	OTTHUMT00000389443.1	A		-		10477123	-1	no_errors	ENST00000264818	ensembl	human	known	74_37	missense	SNP	0.888	G	G	10477123	A	G	10477123	3	3	216	1	0	0	0	0	1	0	0	0	16817	333	12	5	3044	5	TYK2	19	10477123	Missense_Mutation	SNP	A	TCGA-SI-AA8C-01A-11D-A387-09		10477123	48651860	32	17633											
YIPF2	78992	genome.wustl.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																																	0								ENSG00000130733																																			YIPF2	SO:0001651	inframe_deletion	0				HGNC	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del	Somatic	0	44	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33		In_Frame_Del	DEL							pfam_Yip1	p.Q74in_frame_del	ENST00000586748.1	37	c.223_221	CCDS12251.1	19																																																																																			-	NULL		0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	protein_coding	OTTHUMT00000453045.1	GCT	NM_024029			11038364	-1	no_errors	ENST00000253031	ensembl	human	known	74_37	in_frame_del	DEL	0.404:0.366:0.337	-	-	11038364	GCT	-	11038362	7	5	216	1	0	1	0	1	0	0	0	0	17485	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-SI-AA8C-01A-11D-A387-09	561239	11038362	48090621	33	17634											
FCGBP	8857	genome.wustl.edu	37	chr19	40377034	40377034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcatccttggggtcgccGttgtagttcccacacaggcc	11	13	1	0	rs201304305	byFrequency	TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr19:40377034G>A	ENST00000221347.6	-	24	11395	c.11388C>T	c.(11386-11388)aaC>aaT	p.N3796N	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3796	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)			TGGGGTCGCCGTTGTAGTTCC	0.597																																																	0								ENSG00000090920						4	4	4					19																	40377034		1716	3539	5255	FCGBP	SO:0001819	synonymous_variant	0			-	HGNC	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.11388C>T	19.37:g.40377034G>A		Somatic	0	51	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	O95784	Silent	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.N3796	ENST00000221347.6	37	c.11388	CCDS12546.1	19																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890	rs201304305		40377034	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	SNP	0.470	A	A	40377034	G	A	40377034	2	1	216	1	0	0	0	0	0	0	0	1	5780	1136	40	1		1	FCGBP	19	40377034	Silent	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	29338672	40377034	18751949	34	17635											
COL9A3	1299	genome.wustl.edu	37	chr20	61448936	61448936	+	Frame_Shift_Del	DEL	C	C	-													cagagagtgggactccccggCccccccggccccccagggcc					rs544133282	byFrequency	TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr20:61448936delC	ENST00000343916.3	+	2	99	c.96delC	c.(94-96)ggcfs	p.G32fs		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	32	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	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)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GACTccccggcccccccggcc	0.726																																																	0								ENSG00000092758			20,3090		1,18,1536	5	6	6			1.7	0.5	20		6	56,6092		5,46,3023	no	frameshift	COL9A3	NM_001853.3		6,64,4559	A1A1,A1R,RR		0.9109,0.6431,0.8209			61448936	76,9182	1774	3538	5312	COL9A3	SO:0001589	frameshift_variant	0				HGNC	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.96delC	20.37:g.61448936delC	ENSP00000341640:p.Gly32fs	Somatic	0	21	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	Q13681|Q9H4G9|Q9UPE2	Frame_Shift_Del	DEL							pfam_Collagen	p.G35fs	ENST00000343916.3	37	c.96	CCDS13505.1	20																																																																																			-	pfam_Collagen		0.726	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	protein_coding	OTTHUMT00000080071.2	C	NM_001853			61448936	1	no_errors	ENST00000343916	ensembl	human	known	74_37	frame_shift_del	DEL	0.499	-	-	61448936	C	-	61448936	7	5	216	1	0	1	0	1	0	0	0	0	3711	726	26	0	102	0	COL9A3	20	61448936	Frame_Shift_Del	DEL	C	TCGA-SI-AA8C-01A-11D-A387-09		61448936	1576584	35	17636											
PRPF6	57473	genome.wustl.edu	37	chr20	62632451	62632451	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgtctggctggaaGcagccaggttgcagcctggg	17	8	1	2			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr20:62632451G>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.A349S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTGGCTGGAAGCAGCCAGGTT	0.572																																																	0								ENSG00000101161						65	58	61					20																	62632451		2203	4300	6503	PRPF6	SO:0001627	intron_variant	0			-	HGNC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-33143C>A	20.37:g.62632451G>T		Somatic	0	34	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	Q08AK9|Q9ULM4	Missense_Mutation	SNP							pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.A349S	ENST00000450537.1	37	c.1045	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553775	0.65425	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34072	1.38;1.38	5.52	4.56	0.56223	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.64260	1.97	0.80722	D	1	P;B	0.36125	0.538;0.136	P;B	0.48425	0.577;0.267	T	0.35599	-0.9782	10	0.20519	T	0.43	-12.4147	15.6763	0.77326	0.0:0.0:0.8617:0.1383	.	349;349	O94906-2;O94906	.;PRP6_HUMAN	S	349	ENSP00000266079:A349S;ENSP00000446216:A349S	ENSP00000266079:A349S	A	+	1	0	PRPF6	62102895	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	9.383000	0.97214	1.314000	0.45095	-0.181000	0.13052	GCA	-	smart_HAT		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	protein_coding	OTTHUMT00000080246.1	G	NM_020713	-		62632451	1	no_errors	ENST00000266079	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62632451	G	T	62632451	1	4	216	0	1	0	0	0	0	0	0	0	12579	971	34	3		3	PRPF6	20	62632451	Intron	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	1183515	62632451	393069	36	17637											
MN1	4330	genome.wustl.edu	37	chr22	28194881	28194883	+	In_Frame_Del	DEL	GCT	GCT	-													catgagggccgcgttttggcGctgctgctgctgctgctgtt							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr22:28194881_28194883delGCT	ENST00000302326.4	-	1	2603_2605	c.1649_1651delAGC	c.(1648-1653)cagcgc>cgc	p.Q550del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	550	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTTTTGGCgctgctgctgctg	0.645			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0								ENSG00000169184			88,3382		14,60,1661						3.4	1			5	216,6858		15,186,3336	no	coding	MN1	NM_002430.2		29,246,4997	A1A1,A1R,RR		3.0534,2.536,2.8832				304,10240				MN1	SO:0001651	inframe_deletion	0				HGNC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1649_1651delAGC	22.37:g.28194890_28194892delGCT	ENSP00000304956:p.Gln550del	Somatic	0	43	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	A9Z1V9	In_Frame_Del	DEL							NULL	p.Q550in_frame_del	ENST00000302326.4	37	c.1651_1649	CCDS42998.1	22																																																																																			-	NULL		0.645	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	protein_coding	OTTHUMT00000320737.1	GCT	NM_002430			28194883	-1	no_errors	ENST00000302326	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	28194883	GCT	-	28194881	7	5	216	1	0	1	0	1	0	0	0	0	9675	1087	38	0	2319	0	MN1	22	28194881	In_Frame_Del	DEL	GCT	TCGA-SI-AA8C-01A-11D-A387-09		28194881	23109685	37	17638											
MN1	4330	genome.wustl.edu	37	chr22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-													ctgctgctgctgctgctgggGctgctgctgctgctggggct							TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr22:28195625_28195627delGCT	ENST00000302326.4	-	1	1859_1861	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	302	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						tgctgctggggctgctgctgctg	0.66			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0								ENSG00000169184			39,2663		9,21,1321						-0.8	0		dbSNP_131	3	111,5619		17,77,2771	no	coding	MN1	NM_002430.2		26,98,4092	A1A1,A1R,RR		1.9372,1.4434,1.7789				150,8282				MN1	SO:0001651	inframe_deletion	0				HGNC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.905_907delAGC	22.37:g.28195634_28195636delGCT	ENSP00000304956:p.Gln302del	Somatic	0	35	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A9Z1V9	In_Frame_Del	DEL							NULL	p.Q302in_frame_del	ENST00000302326.4	37	c.907_905	CCDS42998.1	22																																																																																			-	NULL		0.66	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	protein_coding	OTTHUMT00000320737.1	GCT	NM_002430			28195627	-1	no_errors	ENST00000302326	ensembl	human	known	74_37	in_frame_del	DEL	0.962:0.987:0.994	-	-	28195627	GCT	-	28195625	7	5	216	1	0	1	0	1	0	0	0	0	9675	1203	42	0	3063	0	MN1	22	28195625	In_Frame_Del	DEL	GCT	TCGA-SI-AA8C-01A-11D-A387-09	744	28195625	23108941	38	17639											
ZC3H7B	23264	genome.wustl.edu	37	chr22	41751983	41751983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccatgcacagaacggccGcaagtgccaatatgtgggga	12	11	0	1			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chr22:41751983G>A	ENST00000352645.4	+	20	2557	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R767H	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	783					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGAACGGCCGCAAGTGCCAA	0.627																																																	0								ENSG00000100403						55	46	49					22																	41751983		2203	4300	6503	ZC3H7B	SO:0001583	missense	0			-	HGNC		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2300G>A	22.37:g.41751983G>A	ENSP00000345793:p.Arg767His	Somatic	0	48	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP							pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R767H	ENST00000352645.4	37	c.2300	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648553	0.87958	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.13196	2.61;2.61	5.18	5.18	0.71444	.	0.052389	0.85682	D	0.000000	T	0.20941	0.0504	L	0.29908	0.895	0.39079	D	0.960869	D	0.67145	0.996	P	0.59115	0.852	T	0.01484	-1.1343	10	0.87932	D	0	-15.3002	12.0975	0.53763	0.0792:0.0:0.9208:0.0	.	767	Q9UGR2-2	.	H	767	ENSP00000345793:R767H;ENSP00000263243:R767H	ENSP00000263243:R767H	R	+	2	0	ZC3H7B	40081929	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.729000	0.74775	2.410000	0.81850	0.561000	0.74099	CGC	-	smart_Znf_CCCH		0.627	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	protein_coding	OTTHUMT00000320696.1	G	NM_017590	-		41751983	1	no_errors	ENST00000351589	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41751983	G	A	41751983	3	1	216	1	0	0	0	0	1	0	0	0	17580	1087	38	1	2374	1	ZC3H7B	22	41751983	Missense_Mutation	SNP	G	TCGA-SI-AA8C-01A-11D-A387-09	13556358	41751983	9552583	39	17640											
PASD1	139135	genome.wustl.edu	37	chrX	150789982	150789982	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaattttgctgtcatttAaaaagaggaaatgtcgaaca	8	4	1	2			TCGA-SI-AA8C-01A-11D-A387-09	TCGA-SI-AA8C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b939bdb6-694c-4411-b89b-ee9ac7dc62a9	7a75c68f-e44f-4634-92eb-e759d0c9075c	g.chrX:150789982A>G	ENST00000370357.4	+	6	581	c.336A>G	c.(334-336)ttA>ttG	p.L112L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	112						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTCATTTAAAAAGAGGAA	0.289																																																	0								ENSG00000166049						131	107	115					X																	150789982		2202	4297	6499	PASD1	SO:0001819	synonymous_variant	0			-	HGNC	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.336A>G	X.37:g.150789982A>G		Somatic	0	133	0		0.611978234918822				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	51	38.55	Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP							superfamily_PAS,smart_PAS,pfscan_PAS	p.L112	ENST00000370357.4	37	c.336	CCDS35431.1	X																																																																																			-	superfamily_PAS		0.289	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	protein_coding	OTTHUMT00000060879.2	A	NM_173493	-		150789982	1	no_errors	ENST00000370357	ensembl	human	known	74_37	silent	SNP	0.001	G	G	150789982	A	G	150789982	2	3	216	1	0	0	0	0	0	0	0	1	11473	359	13	5		5	PASD1	23	150789982	Silent	SNP	A	TCGA-SI-AA8C-01A-11D-A387-09		150789982	4480578	40	17641											
SV2A	9900	genome.wustl.edu	37	chr1	149879718	149879718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtccactgcctggagatGgcggatcatgtcaggaaacc	13	10	2	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr1:149879718G>T	ENST00000369146.3	-	9	1910	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	SV2A_ENST00000369145.1_Missense_Mutation_p.H474N	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	474					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)			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)	GCCTGGAGATGGCGGATCATG	0.522																																																	0								ENSG00000159164						148	142	144					1																	149879718		2203	4300	6503	SV2A	SO:0001583	missense	0			-	HGNC	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.1420C>A	1.37:g.149879718G>T	ENSP00000358142:p.His474Asn	Somatic	0	55	0		0.534929251536897	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.H474N	ENST00000369146.3	37	c.1420	CCDS940.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170226	0.57584	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.57595	0.39;0.39	5.26	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.132256	0.52532	D	0.000073	T	0.41259	0.1151	M	0.67953	2.075	0.45172	D	0.99818	P	0.41188	0.741	P	0.45138	0.471	T	0.33471	-0.9867	10	0.27082	T	0.32	-13.9149	11.4024	0.49878	0.087:0.0:0.913:0.0	.	474	Q7L0J3	SV2A_HUMAN	N	474	ENSP00000358142:H474N;ENSP00000358141:H474N	ENSP00000358141:H474N	H	-	1	0	SV2A	148146342	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	1.541000	0.36126	1.448000	0.47680	0.555000	0.69702	CAT	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.522	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	protein_coding	OTTHUMT00000033754.1	G		-		149879718	-1	no_errors	ENST00000369146	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149879718	G	T	149879718	3	4	217	1	0	0	0	0	1	0	0	0	15424	1348	47	3	828	3	SV2A	1	149879718	Missense_Mutation	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09		149879718	99370903	1	17642											
SELP	6403	genome.wustl.edu	37	chr1	169562868	169562868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgaaacgctttcttagCaaagccaggagcgtcccacc	9	13	2	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr1:169562868C>A	ENST00000263686.6	-	14	2419	c.2382G>T	c.(2380-2382)ttG>ttT	p.L794F	SELP_ENST00000367794.2_Missense_Mutation_p.L732F|SELP_ENST00000367786.2_Missense_Mutation_p.L732F|SELP_ENST00000367791.2_Missense_Mutation_p.L608F|SELP_ENST00000367793.2_Missense_Mutation_p.L732F|SELP_ENST00000367788.2_Missense_Mutation_p.L732F|SELP_ENST00000367792.2_Missense_Mutation_p.L610F|SELP_ENST00000458599.2_Missense_Mutation_p.L610F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	794					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCTTTCTTAGCAAAGCCAGGA	0.418																																																	0								ENSG00000174175						75	73	73					1																	169562868		2203	4300	6503	SELP	SO:0001583	missense	0			-	HGNC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2382G>T	1.37:g.169562868C>A	ENSP00000263686:p.Leu794Phe	Somatic	0	60	0		0.534929251536897	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	Q5R344|Q8IVD1	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.L794F	ENST00000263686.6	37	c.2382	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033656|4.033656	0.75504|0.75504	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.29142	.|2.1;1.93;1.65;1.58;1.81;1.93;1.65	5.62|5.62	-2.66|-2.66	0.06077|0.06077	.|.	.|0.183418	.|0.27176	.|N	.|0.020579	T|T	0.19886|0.19886	0.0478|0.0478	M|M	0.67953|0.67953	2.075|2.075	0.22610|0.22610	N|N	0.998939|0.998939	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.75020	.|0.964;0.985	T|T	0.29912|0.29912	-0.9996|-0.9996	5|10	.|0.12430	.|T	.|0.62	-13.4059|-13.4059	1.8481|1.8481	0.03163|0.03163	0.3724:0.345:0.1125:0.17|0.3724:0.345:0.1125:0.17	.|.	.|793;794	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	S|F	610|608;794;793;610;794;732;732;610;608;732;732;717	.|ENSP00000263686:L794F;ENSP00000356767:L732F;ENSP00000356768:L732F;ENSP00000356766:L610F;ENSP00000356765:L608F;ENSP00000356762:L732F;ENSP00000356760:L732F	.|ENSP00000263686:L794F	A|L	-|-	1|3	0|2	SELP|SELP	167829492|167829492	0.996000|0.996000	0.38824|0.38824	0.990000|0.990000	0.47175|0.47175	0.986000|0.986000	0.74619|0.74619	0.040000|0.040000	0.13905|0.13905	-0.259000|-0.259000	0.09432|0.09432	0.650000|0.650000	0.86243|0.86243	GCT|TTG	-	NULL		0.418	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	protein_coding	OTTHUMT00000083916.4	C	NM_003005	-		169562868	-1	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	SNP	0.939	A	A	169562868	C	A	169562868	3	1	217	1	0	0	0	0	1	0	0	0	14027	709	25	3	122	3	SELP	1	169562868	Missense_Mutation	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09	19683150	169562868	79687753	2	17643											
TNN	63923	genome.wustl.edu	37	chr1	175049496	175049496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcctggaaccaagtacAtagtcaccctgcgtaacgtc	9	13	1	0	rs143132527	byFrequency	TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr1:175049496A>G	ENST00000239462.4	+	4	1095	c.982A>G	c.(982-984)Ata>Gta	p.I328V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	328	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AACCAAGTACATAGTCACCCT	0.547																																																	0								ENSG00000120332						125	120	122					1																	175049496		2203	4300	6503	TNN	SO:0001583	missense	0			-	HGNC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.982A>G	1.37:g.175049496A>G	ENSP00000239462:p.Ile328Val	Somatic	0	65	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	B9EGP3|Q5R360	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.I328V	ENST00000239462.4	37	c.982	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	A	0.075	-1.194727	0.01594	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.55588	0.51	5.7	0.742	0.18341	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.312878	0.35870	N	0.002937	T	0.33206	0.0855	L	0.43701	1.375	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.11329	0.005;0.006	T	0.14090	-1.0485	10	0.13108	T	0.6	.	2.1158	0.03713	0.5633:0.1211:0.1992:0.1164	.	328;328	B3KXB6;Q9UQP3	.;TENN_HUMAN	V	328	ENSP00000239462:I328V	ENSP00000239462:I328V	I	+	1	0	TNN	173316119	0.666000	0.27475	0.609000	0.28983	0.717000	0.41224	0.725000	0.25970	-0.121000	0.11787	-0.274000	0.10170	ATA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	protein_coding	OTTHUMT00000084422.1	A	XM_040527	-		175049496	1	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	SNP	0.242	G	G	175049496	A	G	175049496	3	3	217	1	0	0	0	0	1	0	0	0	16330	217	8	5	992	5	TNN	1	175049496	Missense_Mutation	SNP	A	TCGA-UE-A6QT-01A-12D-A32I-09	5486628	175049496	74201125	3	17644											
SLC6A20	54716	genome.wustl.edu	37	chr3	45801483	45801483	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtaccagctcacagctcGgccggtcatggccttaaggt	11	14	2	0	rs551737950		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr3:45801483G>T	ENST00000358525.4	-	10	1610	c.1495C>A	c.(1495-1497)Cga>Aga	p.R499R	SLC6A20_ENST00000456124.2_Silent_p.R499R|SLC6A20_ENST00000353278.4_Silent_p.R462R|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	499					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)		CTCACAGCTCGGCCGGTCATG	0.542																																																	0								ENSG00000163817						109	112	111					3																	45801483		2203	4300	6503	SLC6A20	SO:0001819	synonymous_variant	0			-	HGNC	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.1495C>A	3.37:g.45801483G>T		Somatic	0	59	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.R499	ENST00000358525.4	37	c.1495	CCDS43077.1	3																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.542	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	protein_coding	OTTHUMT00000257318.3	G	NM_020208	-		45801483	-1	no_errors	ENST00000358525	ensembl	human	known	74_37	silent	SNP	0.437	T	T	45801483	G	T	45801483	2	4	217	1	0	0	0	0	0	0	0	1	14692	1124	39	3		3	SLC6A20	3	45801483	Silent	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09		45801483	152220947	4	17645											
RBP2	5948	genome.wustl.edu	37	chr3	139181030	139181030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatccacatcatagttgCggaatgtgctagtggttttt	10	6	1	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr3:139181030C>T	ENST00000232217.2	-	2	232	c.176G>A	c.(175-177)cGc>cAc	p.R59H	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	59					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	ATCATAGTTGCGGAATGTGCT	0.443																																																	0								ENSG00000114113						236	197	210					3																	139181030		2203	4300	6503	RBP2	SO:0001583	missense	0			-	HGNC	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"Fatty acid binding protein family"	9920	protein-coding gene	gene with protein product		180280	"retinol-binding protein 2, cellular"			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.176G>A	3.37:g.139181030C>T	ENSP00000232217:p.Arg59His	Somatic	0	111	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	66	22.35	A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.R59H	ENST00000232217.2	37	c.176	CCDS3109.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.304005	0.95601	.	.	ENSG00000114113	ENST00000232217;ENST00000511956	T;T	0.08634	3.07;3.07	5.9	5.9	0.94986	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.127140	0.64402	D	0.000016	T	0.28665	0.0710	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	T	0.00108	-1.2050	10	0.72032	D	0.01	.	20.273	0.98481	0.0:1.0:0.0:0.0	.	59	P50120	RET2_HUMAN	H	59	ENSP00000232217:R59H;ENSP00000424333:R59H	ENSP00000232217:R59H	R	-	2	0	RBP2	140663720	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.694000	0.84235	2.804000	0.96469	0.650000	0.86243	CGC	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.443	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP2	protein_coding	OTTHUMT00000358490.1	C	NM_004164	-		139181030	-1	no_errors	ENST00000232217	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139181030	C	T	139181030	3	4	217	1	0	0	0	0	1	0	0	0	13164	768	27	1	240	1	RBP2	3	139181030	Missense_Mutation	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09	93379547	139181030	58841400	5	17646											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)						ENSG00000121879						99	89	92					3																	178952085		1912	4130	6042	PIK3CA	SO:0001583	missense	0			-	HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic	0	41	0		0.534929251536897	12	55.56	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q14CW1|Q99762	Missense_Mutation	SNP							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	A		rs121913279		178952085	1	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178952085	A	G	178952085	3	3	217	1	0	0	0	0	1	0	0	0	11915	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-UE-A6QT-01A-12D-A32I-09	39771055	178952085	19070345	6	17647											
ENAM	10117	genome.wustl.edu	37	chr4	71508541	71508541	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctcaacagtatgaagtTaataaatcaaattataaact	3	6	2	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr4:71508541T>C	ENST00000396073.3	+	9	1679	c.1398T>C	c.(1396-1398)gtT>gtC	p.V466V	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	466					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGTATGAAGTTAATAAATCAA	0.388																																																	0								ENSG00000132464						35	37	36					4																	71508541		2176	4296	6472	ENAM	SO:0001819	synonymous_variant	0			-	HGNC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1398T>C	4.37:g.71508541T>C		Somatic	0	92	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	55	33.73	Q17RI5|Q9H3D1	Silent	SNP							NULL	p.V466	ENST00000396073.3	37	c.1398	CCDS3544.2	4																																																																																			-	NULL		0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	T	NM_031889	-		71508541	1	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	SNP	0.064	C	C	71508541	T	C	71508541	2	2	217	1	0	0	0	0	0	0	0	1	5114	1741	61	5		5	ENAM	4	71508541	Silent	SNP	T	TCGA-UE-A6QT-01A-12D-A32I-09		71508541	119645735	7	17648											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129072866	129072866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtatcagcgctgctgtgaAacatgcagggacttctatgc	12	9	2	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr5:129072866A>T	ENST00000274487.4	+	23	3724	c.3579A>T	c.(3577-3579)gaA>gaT	p.E1193D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1193	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1193E(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTGCTGTGAAACATGCAGGG	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000145808						89	75	80					5																	129072866		2203	4300	6503	ADAMTS19	SO:0001583	missense	0			-	HGNC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3579A>T	5.37:g.129072866A>T	ENSP00000274487:p.Glu1193Asp	Somatic	0	33	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1193D	ENST00000274487.4	37	c.3579	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617764	0.66787	.	.	ENSG00000145808	ENST00000274487	T	0.45668	0.89	4.12	-0.0789	0.13713	PLAC (2);	0.079149	0.47852	N	0.000220	T	0.27278	0.0669	N	0.08118	0	0.39816	D	0.972778	D	0.58268	0.982	P	0.58013	0.831	T	0.25847	-1.0120	9	.	.	.	.	2.0326	0.03533	0.2308:0.1348:0.4956:0.1388	.	1193	Q8TE59	ATS19_HUMAN	D	1193	ENSP00000274487:E1193D	.	E	+	3	2	ADAMTS19	129100765	1.000000	0.71417	0.933000	0.37362	0.984000	0.73092	0.672000	0.25187	0.005000	0.14708	-0.182000	0.12963	GAA	-	pfam_PLAC,pfscan_PLAC		0.488	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	protein_coding	OTTHUMT00000250979.2	A	NM_133638	-		129072866	1	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129072866	A	T	129072866	3	4	217	1	0	0	0	0	1	0	0	0	264	11	1	5	3669	5	ADAMTS19	5	129072866	Missense_Mutation	SNP	A	TCGA-UE-A6QT-01A-12D-A32I-09		129072866	51842394	8	17649											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182562	140182562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccacgtggtagcgaagGtgcgcgcagtggatgcagac	18	10	0	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr5:140182562G>A	ENST00000522353.2	+	1	1780	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V594M|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	594	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(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAGCGAAGGTGCGCGCAGT	0.682																																																	0								ENSG00000255408						102	99	100					5																	140182562		2203	4300	6503	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1780G>A	5.37:g.140182562G>A	ENSP00000429808:p.Val594Met	Somatic	0	94	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	93	8.82	O75286	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V594M	ENST00000522353.2	37	c.1780	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	12.31	1.900333	0.33535	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.57907	0.37;0.37	4.18	3.29	0.37713	Cadherin (4);Cadherin-like (1);	15.792800	0.02795	U	0.122513	T	0.76062	0.3935	M	0.90542	3.125	0.25916	N	0.983175	D;D	0.89917	1.0;0.997	D;D	0.71414	0.959;0.973	T	0.50423	-0.8830	10	0.87932	D	0	.	4.3051	0.10942	0.3681:0.0:0.6319:0.0	.	594;594	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	594	ENSP00000429808:V594M;ENSP00000434086:V594M	ENSP00000429808:V594M	V	+	1	0	PCDHA3	140162746	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	0.977000	0.29475	2.047000	0.60756	0.313000	0.20887	GTG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	G	NM_018906	-		140182562	1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140182562	G	A	140182562	3	1	217	1	0	0	0	0	1	0	0	0	11527	1261	44	2	1782	2	PCDHA3	5	140182562	Missense_Mutation	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09	11109696	140182562	40732698	9	17650											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90572405	90572405	+	RNA	DEL	C	C	-													ctcttcttgggagaaagagaCccctggagaaaggtcacaca							TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr6:90572405delC	ENST00000551025.1	+	0	2414									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAGAAAGAGACCCCTGGAGAA	0.358																																					Colon(187;1656 2025 17045 31481 39901)												0								ENSG00000118412						91	94	93					6																	90572405		1843	4091	5934	CASP8AP2			0				HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572405delC		Somatic	0	26	0		0.534929251536897	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00		RNA	DEL							-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		C	NM_001137667			90572405	1	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	DEL	0.036	-	-	90572405	C	-	90572405	6	5	217	0	1	1	0	1	0	0	0	0	2680	507	18	0		0	CASP8AP2	6	90572405	RNA	DEL	C	TCGA-UE-A6QT-01A-12D-A32I-09		90572405	80542662	10	17651											
FLNC	2318	genome.wustl.edu	37	chr7	128483309	128483309	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgccagccccttccacatCaaggtggacccatcccacga	7	20	1	0			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr7:128483309C>T	ENST00000325888.8	+	17	2838	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	FLNC_ENST00000346177.6_Silent_p.I859I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	859					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						CCTTCCACATCAAGGTGGACC	0.642																																																	0								ENSG00000128591						28	33	31					7																	128483309		2070	4218	6288	FLNC	SO:0001819	synonymous_variant	0			-	HGNC	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.2577C>T	7.37:g.128483309C>T		Somatic	0	67	0		0.534929251536897	2	75	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP							pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I859	ENST00000325888.8	37	c.2577	CCDS43644.1	7																																																																																			-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C		-		128483309	1	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	SNP	1.000	T	T	128483309	C	T	128483309	2	4	217	1	0	0	0	0	0	0	0	1	5937	816	29	2		2	FLNC	7	128483309	Silent	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09		128483309	30655354	11	17652											
RP1L1	94137	genome.wustl.edu	37	chr8	10466863	10466863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccatcctacccgccCggccctggagcttctggagc	10	19	1	0			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr8:10466863C>T	ENST00000382483.3	-	4	4968	c.4745G>A	c.(4744-4746)cGg>cAg	p.R1582Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1662					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)				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)		CCTACCCGCCCGGCCCTGGAG	0.672																																																	0								ENSG00000183638						12	15	14					8																	10466863		1987	4132	6119	RP1L1	SO:0001583	missense	0			-	HGNC	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.4745G>A	8.37:g.10466863C>T	ENSP00000371923:p.Arg1582Gln	Somatic	0	29	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP							pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R1582Q	ENST00000382483.3	37	c.4745	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238608	0.22711	.	.	ENSG00000183638	ENST00000382483	T	0.08984	3.03	4.66	2.87	0.33458	.	.	.	.	.	T	0.07548	0.0190	L	0.34521	1.04	0.09310	N	1	B	0.27450	0.179	B	0.24155	0.051	T	0.28586	-1.0039	9	0.72032	D	0.01	-8.0241	9.6298	0.39772	0.0:0.828:0.0:0.172	.	1582	A6NKC6	.	Q	1582	ENSP00000371923:R1582Q	ENSP00000371923:R1582Q	R	-	2	0	RP1L1	10504273	0.594000	0.26849	0.008000	0.14137	0.018000	0.09664	1.604000	0.36804	0.585000	0.29608	-0.333000	0.08304	CGG	-	NULL		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	C		-		10466863	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	SNP	0.080	T	T	10466863	C	T	10466863	3	4	217	1	0	0	0	0	1	0	0	0	13541	652	23	1	2461	1	RP1L1	8	10466863	Missense_Mutation	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09		10466863	135897159	12	17653											
AKAP2	11217	genome.wustl.edu	37	chr9	112899370	112899372	+	In_Frame_Del	DEL	CAG	CAG	-													tgctgctgcagaagcagttaCagcagcagcagcagcagccc							TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr9:112899370_112899372delCAG	ENST00000259318.7	+	2	1060_1062	c.853_855delCAG	c.(853-855)cagdel	p.Q290del	AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000374530.3_In_Frame_Del_p.Q521del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	290										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						gaagcagttacagcagcagcagc	0.552																																																	0								ENSG00000157654																																			PALM2-AKAP2	SO:0001651	inframe_deletion	0				HGNC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.853_855delCAG	9.37:g.112899379_112899381delCAG	ENSP00000259318:p.Gln290del	Somatic	0	48	0		0.534929251536897	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL							pfam_Paralemmin,pfam_RII_binding_1	p.Q519in_frame_del	ENST00000259318.7	37	c.1546_1548	CCDS48003.1	9																																																																																			-	NULL		0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	protein_coding	OTTHUMT00000346067.3	CAG	NM_001004065			112899372	1	no_errors	ENST00000374530	ensembl	human	known	74_37	in_frame_del	DEL	0.823:0.886:0.022	-	-	112899372	CAG	-	112899370	7	5	217	1	0	1	0	1	0	0	0	0	451	479	17	0	1126	0	AKAP2	9	112899370	In_Frame_Del	DEL	CAG	TCGA-UE-A6QT-01A-12D-A32I-09		112899370	28314061	13	17654											
DEAF1	10522	genome.wustl.edu	37	chr11	688025	688025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttccacctttttcttggcCgggagccagaggggttggag	15	9	1	1	rs371722695		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr11:688025C>T	ENST00000382409.3	-	4	1034	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_ENST00000338675.6_Missense_Mutation_p.G184S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	184					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547																																																	0								ENSG00000177030	C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	54	62	60		550	4.8	1	11		60	0,8600		0,0,4300	no	missense	DEAF1	NM_021008.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	184/566	688025	1,13005	2203	4300	6503	DEAF1	SO:0001583	missense	0			-	HGNC	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.550G>A	11.37:g.688025C>T	ENSP00000371846:p.Gly184Ser	Somatic	0	54	0		0.534929251536897	7	83.72	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP							pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.G184S	ENST00000382409.3	37	c.550	CCDS31327.1	11	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531880	0.64972	2.27E-4	0.0	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.63417	-0.04	4.77	4.77	0.60923	.	0.266086	0.31071	N	0.008302	T	0.49287	0.1548	N	0.19112	0.55	0.45995	D	0.998808	D	0.60575	0.988	P	0.46275	0.51	T	0.46076	-0.9217	10	0.07813	T	0.8	-38.5118	16.9509	0.86245	0.0:1.0:0.0:0.0	.	184	O75398	DEAF1_HUMAN	S	184;184;170;107	ENSP00000371846:G184S	ENSP00000341902:G184S	G	-	1	0	DEAF1	678025	0.998000	0.40836	0.971000	0.41717	0.944000	0.59088	4.618000	0.61211	2.349000	0.79799	0.655000	0.94253	GGC	-	NULL		0.547	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	protein_coding	OTTHUMT00000383614.3	C	NM_021008	-		688025	-1	no_errors	ENST00000382409	ensembl	human	known	74_37	missense	SNP	0.995	T	T	688025	C	T	688025	3	4	217	1	0	0	0	0	1	0	0	0	4382	652	23	1	1183	1	DEAF1	11	688025	Missense_Mutation	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09		688025	134318491	14	17655											
CRY2	1408	genome.wustl.edu	37	chr11	45882531	45882531	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggagagctgcagggccgaGatccaggagaaccacgacga	15	10	0	3			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr11:45882531G>C	ENST00000443527.2	+	4	685	c.663G>C	c.(661-663)gaG>gaC	p.E221D	CRY2_ENST00000417225.2_Missense_Mutation_p.E139D|CRY2_ENST00000473199.1_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	200					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCAGGGCCGAGATCCAGGAGA	0.607																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0								ENSG00000121671						86	68	74					11																	45882531		2203	4299	6502	CRY2	SO:0001583	missense	0			-	HGNC	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.663G>C	11.37:g.45882531G>C	ENSP00000406751:p.Glu221Asp	Somatic	0	43	0		0.534929251536897	12	53.85	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP							pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.E221D	ENST00000443527.2	37	c.663	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687101	0.48097	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	6.17	4.29	0.51040	.	0.513748	0.23585	N	0.046607	T	0.31670	0.0804	N	0.22421	0.69	0.30185	N	0.800062	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19877	-1.0292	9	0.23891	T	0.37	-19.3709	10.6174	0.45458	0.0:0.2179:0.4485:0.3335	.	221;139	B4DZD6;Q49AN0-2	.;.	D	139;221	.	ENSP00000397419:E139D	E	+	3	2	CRY2	45839107	0.856000	0.29760	1.000000	0.80357	0.955000	0.61496	-0.118000	0.10692	0.917000	0.36895	0.655000	0.94253	GAG	-	superfamily_DNA_photolyase_N		0.607	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	protein_coding	OTTHUMT00000330235.2	G	NM_021117	-		45882531	1	no_errors	ENST00000443527	ensembl	human	known	74_37	missense	SNP	1.000	C	C	45882531	G	C	45882531	3	2	217	1	0	0	0	0	1	0	0	0	3906	933	33	4	713	4	CRY2	11	45882531	Missense_Mutation	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09	45194506	45882531	89123985	15	17656											
TIRAP	114609	genome.wustl.edu	37	chr11	126162666	126162666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcttcctgcaactccGggatgcaaccccaggcggcg	13	16	0	0	rs199545047		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr11:126162666G>T	ENST00000392680.2	+	5	767	c.362G>T	c.(361-363)cGg>cTg	p.R121L	TIRAP_ENST00000392679.1_Missense_Mutation_p.R121L|TIRAP_ENST00000392678.3_Missense_Mutation_p.R121L|RP11-712L6.7_ENST00000533378.1_RNA|RP11-712L6.5_ENST00000528876.1_5'Flank	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	121	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CTGCAACTCCGGGATGCAACC	0.642																																																	0								ENSG00000150455						27	26	26					11																	126162666		2201	4298	6499	TIRAP	SO:0001583	missense	0			-	HGNC	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.362G>T	11.37:g.126162666G>T	ENSP00000376447:p.Arg121Leu	Somatic	0	48	0		0.534929251536897	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP							pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom	p.R121L	ENST00000392680.2	37	c.362	CCDS8472.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998469	0.74818	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.03496	3.91;3.91;3.91	5.67	5.67	0.87782	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	M	0.79693	2.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00118	-1.2034	9	.	.	.	-40.0178	19.7738	0.96383	0.0:0.0:1.0:0.0	.	121;121	P58753;Q56UH9	TIRAP_HUMAN;.	L	121	ENSP00000376446:R121L;ENSP00000376445:R121L;ENSP00000376447:R121L	.	R	+	2	0	TIRAP	125667876	1.000000	0.71417	0.397000	0.26308	0.151000	0.21798	8.631000	0.90991	2.672000	0.90937	0.655000	0.94253	CGG	-	pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom		0.642	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TIRAP	protein_coding	OTTHUMT00000277092.1	G	NM_148910	-		126162666	1	no_errors	ENST00000392678	ensembl	human	known	74_37	missense	SNP	0.997	T	T	126162666	G	T	126162666	3	4	217	1	0	0	0	0	1	0	0	0	15934	1116	39	3	368	3	TIRAP	11	126162666	Missense_Mutation	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09	80280135	126162666	8843850	16	17657											
MYO1A	4640	genome.wustl.edu	37	chr12	57441190	57441190	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaccagcttgctggcCtctgtgcaggcaaaacgctc	10	14	2	0			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr12:57441190C>T	ENST00000442789.2	-	6	614	c.327G>A	c.(325-327)gaG>gaA	p.E109E	MYO1A_ENST00000300119.3_Splice_Site_p.E109E|MYO1A_ENST00000544473.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	109	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCTTGCTGGCCTCTGTGCAGG	0.587																																																	0								ENSG00000166866						65	57	60					12																	57441190		2203	4300	6503	MYO1A	SO:0001630	splice_region_variant	0			-	HGNC	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.326-1G>A	12.37:g.57441190C>T		Somatic	0	21	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q9UQD7	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E109	ENST00000442789.2	37	c.327	CCDS8929.1	12																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.587	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	protein_coding	OTTHUMT00000313833.2	C	NM_005379	-	Silent	57441190	-1	no_errors	ENST00000300119	ensembl	human	known	74_37	silent	SNP	1.000	T	T	57441190	C	T	57441190	5	4	217	1	0	0	0	0	0	0	1	0	10070	695	24	2	2900	2	MYO1A	12	57441190	Splice_Site	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09		57441190	76410705	17	17658											
TP53	7157	genome.wustl.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs397516437|rs28934573		TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241F	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573	ENSG00000141510						139	108	118					17																	7577559		2203	4300	6503	TP53	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;	-	HGNC	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.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe	Somatic	0	54	0		0.534929251536897	17	72.13	44	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S241F	ENST00000269305.4	37	c.722	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546	rs28934573		7577559	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7577559	G	A	7577559	3	1	217	1	0	0	0	0	1	0	0	0	16388	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09		7577559	73617651	18	17659											
PSMB3	5691	genome.wustl.edu	37	chr17	36909562	36909562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtacatcggtctggccGggctcgccactgacgtccag	14	14	1	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:36909562G>T	ENST00000225426.4	+	2	254	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	55					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						CGGTCTGGCCGGGCTCGCCAC	0.622																																																	0								ENSG00000108294						43	40	41					17																	36909562		2203	4300	6503	PSMB3	SO:0001583	missense	0			-	HGNC	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.163G>T	17.37:g.36909562G>T	ENSP00000225426:p.Gly55Trp	Somatic	0	51	0		0.534929251536897	504	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP							pfam_Proteasome_sua/b	p.G55W	ENST00000225426.4	37	c.163	CCDS11328.1	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140395	0.56936	.	.	ENSG00000108294	ENST00000225426	D	0.83506	-1.73	5.63	5.63	0.86233	Proteasome, beta-type subunit, conserved site (1);	0.097278	0.64402	D	0.000001	D	0.93641	0.7969	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94844	0.8007	10	0.87932	D	0	.	18.2342	0.89944	0.0:0.0:1.0:0.0	.	55	P49720	PSB3_HUMAN	W	55	ENSP00000225426:G55W	ENSP00000225426:G55W	G	+	1	0	PSMB3	34163088	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	9.749000	0.98871	2.659000	0.90383	0.561000	0.74099	GGG	-	pfam_Proteasome_sua/b		0.622	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	protein_coding	OTTHUMT00000256810.2	G	NM_002795	-		36909562	1	no_errors	ENST00000225426	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36909562	G	T	36909562	3	4	217	1	0	0	0	0	1	0	0	0	12683	1116	39	3	169	3	PSMB3	17	36909562	Missense_Mutation	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09	29332003	36909562	44285648	19	17660											
COL1A1	1277	genome.wustl.edu	37	chr17	48264176	48264176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagcccggtagtagcgGccaccatcgtgagccttctc	10	15	3	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:48264176G>A	ENST00000225964.5	-	48	3757	c.3639C>T	c.(3637-3639)ggC>ggT	p.G1213G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1213	Nonhelical region (C-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGTAGTAGCGGCCACCATCGT	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0								ENSG00000108821						119	107	111					17																	48264176		2203	4300	6503	COL1A1	SO:0001819	synonymous_variant	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3639C>T	17.37:g.48264176G>A		Somatic	0	51	0		0.534929251536897	444	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G1213	ENST00000225964.5	37	c.3639	CCDS11561.1	17																																																																																			-	NULL		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	G		-		48264176	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	silent	SNP	1.000	A	A	48264176	G	A	48264176	2	1	217	1	0	0	0	0	0	0	0	1	3679	1190	42	2		2	COL1A1	17	48264176	Silent	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09	11354614	48264176	32931034	20	17661											
SLC16A6	9120	genome.wustl.edu	37	chr17	66267497	66267497	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggggctggtcttcaccagGacctgctgcatgtcggcctt	13	13	2	0			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr17:66267497G>A	ENST00000327268.4	-	6	968	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.V268V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	268					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TCTTCACCAGGACCTGCTGCA	0.458																																																	0								ENSG00000108932						89	87	88					17																	66267497		2203	4300	6503	SLC16A6	SO:0001819	synonymous_variant	0			-	HGNC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.804C>T	17.37:g.66267497G>A		Somatic	0	106	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	77	25.24	Q6P1X3	Silent	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V268	ENST00000327268.4	37	c.804	CCDS11675.1	17																																																																																			-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	protein_coding	OTTHUMT00000448323.1	G	NM_004694	-		66267497	-1	no_errors	ENST00000327268	ensembl	human	known	74_37	silent	SNP	0.001	A	A	66267497	G	A	66267497	2	1	217	1	0	0	0	0	0	0	0	1	14420	1161	41	2		2	SLC16A6	17	66267497	Silent	SNP	G	TCGA-UE-A6QT-01A-12D-A32I-09	18003321	66267497	14927713	21	17662											
CPAMD8	27151	genome.wustl.edu	37	chr19	17111251	17111251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaggacagggcgtccCacctcgtggctgtagtaccc	13	13	1	1			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chr19:17111251C>T	ENST00000443236.1	-	10	1012	c.981G>A	c.(979-981)gtG>gtA	p.V327V	CPAMD8_ENST00000388925.4_Silent_p.V280V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	280						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGGGCGTCCCACCTCGTGGC	0.502																																																	0								ENSG00000160111						59	60	59					19																	17111251		1921	4125	6046	CPAMD8	SO:0001819	synonymous_variant	0			-	HGNC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.981G>A	19.37:g.17111251C>T		Somatic	0	84	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	73	17.05	Q8NC09|Q9ULD7	Silent	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.V327	ENST00000443236.1	37	c.981	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	-	1.216	-0.628376	0.03610	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5937	0.12319	0.2172:0.6609:0.0:0.1218	.	.	.	.	X	338	.	.	W	-	2	0	CPAMD8	16972251	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	1.052000	0.30429	1.178000	0.42870	0.455000	0.32223	TGG	-	NULL		0.502	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	protein_coding	OTTHUMT00000257531.2	C	NM_015692	-		17111251	-1	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	SNP	1.000	T	T	17111251	C	T	17111251	2	4	217	1	0	0	0	0	0	0	0	1	3797	581	21	2		2	CPAMD8	19	17111251	Silent	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09		17111251	42017732	22	17663											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996612	140996612	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgtcccccagcttctcttCtgagtgaagtctagggcaga	10	12	3	3			TCGA-UE-A6QT-01A-12D-A32I-09	TCGA-UE-A6QT-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7452ec-e6c4-4a85-bd88-241c78b79428	2b7c2a25-5412-4497-98e6-a1871fb5dc33	g.chrX:140996612C>T	ENST00000285879.4	+	4	3708	c.3422C>T	c.(3421-3423)tCt>tTt	p.S1141F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S208F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1141										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCTCTTCTGAGTGAAGT	0.527										HNSCC(15;0.026)																																							0								ENSG00000155495						67	57	61					X																	140996612		2203	4299	6502	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3422C>T	X.37:g.140996612C>T	ENSP00000285879:p.Ser1141Phe	Somatic	0	105	0		0.534929251536897	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	66	25.84	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.S1141F	ENST00000285879.4	37	c.3422	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	5.600	0.295457	0.10622	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05513	4.16;3.43	1.06	1.06	0.20224	.	.	.	.	.	T	0.05731	0.0150	N	0.03608	-0.345	0.09310	N	1	D	0.55605	0.972	P	0.58013	0.831	T	0.37911	-0.9685	9	0.72032	D	0.01	.	5.1278	0.14894	0.0:1.0:0.0:0.0	.	1141	O60732	MAGC1_HUMAN	F	1141;208	ENSP00000285879:S1141F;ENSP00000385500:S208F	ENSP00000285879:S1141F	S	+	2	0	MAGEC1	140824278	0.001000	0.12720	0.004000	0.12327	0.024000	0.10985	0.154000	0.16343	0.811000	0.34303	0.279000	0.19357	TCT	-	NULL		0.527	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140996612	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.004	T	T	140996612	C	T	140996612	3	4	217	1	0	0	0	0	1	0	0	0	9182	913	32	2	3428	2	MAGEC1	23	140996612	Missense_Mutation	SNP	C	TCGA-UE-A6QT-01A-12D-A32I-09		140996612	14273948	23	17664											
C1orf87	127795	genome.wustl.edu	37	chr1	60491105	60491105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaacccaaatcttgatgGttaagcaatgtttccagcag	9	8	1	1	rs147855127		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:60491105G>A	ENST00000371201.3	-	8	1202	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	C1orf87_ENST00000450089.2_Silent_p.N136N	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	365							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCTTGATGGTTAAGCAATG	0.363													G|||	1	0.000199681	0	0	5008	,	,		18341	0		0.001	False		,,,				2504	0				NSCLC(75;811 1386 4923 13371 51772)												0								ENSG00000162598	G		1,4405	2.1+/-5.4	0,1,2202	119	122	121		1095	0.7	0.9	1	dbSNP_134	121	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous	C1orf87	NM_152377.2		0,30,6473	AA,AG,GG		0.3372,0.0227,0.2307		365/547	60491105	30,12976	2203	4300	6503	C1orf87	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1095C>T	1.37:g.60491105G>A		Somatic	0	52	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	29	47.27	Q6ZU07|Q8IVS0	Silent	SNP							NULL	p.N365	ENST00000371201.3	37	c.1095	CCDS614.1	1																																																																																			-	NULL		0.363	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	protein_coding	OTTHUMT00000024943.1	G	NM_152377	rs147855127		60491105	-1	no_errors	ENST00000371201	ensembl	human	known	74_37	silent	SNP	0.928	A	A	60491105	G	A	60491105	2	1	218	1	0	0	0	0	0	0	0	1	2066	1252	44	2		2	C1orf87	1	60491105	Silent	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09		60491105	188759516	1	17665											
HIPK1	204851	genome.wustl.edu	37	chr1	114499908	114499908	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatacagtgcacaatcaGgtattcaataaataattttg	5	7	3	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:114499908G>T	ENST00000369558.1	+	7	1987	c.1755G>T	c.(1753-1755)caG>caT	p.Q585H	HIPK1_ENST00000426820.2_Splice_Site_p.Q585H|HIPK1_ENST00000369553.1_Splice_Site_p.Q191H|HIPK1_ENST00000369555.2_Splice_Site_p.Q585H|HIPK1_ENST00000369559.4_Splice_Site_p.Q585H|HIPK1_ENST00000406344.1_Splice_Site_p.Q191H|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369554.2_Splice_Site_p.Q585H|HIPK1_ENST00000340480.4_Splice_Site_p.Q211H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	585					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		TGCACAATCAGGTATTCAATA	0.383																																																	0								ENSG00000163349						88	77	80					1																	114499908		2203	4300	6503	HIPK1	SO:0001630	splice_region_variant	0			-	HGNC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1755+1G>T	1.37:g.114499908G>T		Somatic	0	37	0		0.509313648659363	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q585H	ENST00000369558.1	37	c.1755	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706888	0.68615	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.54479	0.57;0.58;0.62;0.57;0.57;0.62;3.68;1.85;1.85	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000005	T	0.69396	0.3106	M	0.78456	2.415	0.80722	D	1	P;D;P	0.61697	0.945;0.99;0.729	P;D;B	0.70487	0.878;0.969;0.371	T	0.70513	-0.4851	10	0.56958	D	0.05	.	19.04	0.92995	0.0:0.0:1.0:0.0	.	191;585;585	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	H	656;585;585;585;585;585;211;191;191	ENSP00000407442:Q656H;ENSP00000358572:Q585H;ENSP00000409673:Q585H;ENSP00000358567:Q585H;ENSP00000358568:Q585H;ENSP00000358571:Q585H;ENSP00000340956:Q211H;ENSP00000358566:Q191H;ENSP00000384960:Q191H	ENSP00000340956:Q211H	Q	+	3	2	HIPK1	114301431	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.601000	0.98297	2.814000	0.96858	0.650000	0.86243	CAG	-	NULL		0.383	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	protein_coding	OTTHUMT00000033127.1	G	NM_198268	-	Missense_Mutation	114499908	1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	SNP	1.000	T	T	114499908	G	T	114499908	5	4	218	1	0	0	0	0	0	0	1	0	7118	1014	35	3	1795	3	HIPK1	1	114499908	Splice_Site	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	54008803	114499908	134750713	2	17666											
ANP32E	81611	genome.wustl.edu	37	chr1	150199040	150199045	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-													cttcatcctcatcctcatccTcctcttcctcttcctcctcc					rs56692627|rs28594165|rs68136184|rs28460085	byFrequency	TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	TCCTCT	TCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:150199040_150199045delTCCTCT	ENST00000314136.8	-	5	945_950	c.576_581delAGAGGA	c.(574-582)gaagaggag>gag	p.192_194EEE>E	ANP32E_ENST00000533654.1_In_Frame_Del_p.KR137del|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_In_Frame_Del_p.60_62EEE>E|ANP32E_ENST00000436748.2_In_Frame_Del_p.151_153EEE>E|ANP32E_ENST00000369119.3_In_Frame_Del_p.144_146EEE>E|ANP32E_ENST00000369116.4_In_Frame_Del_p.60_62EEE>E	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	192	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			atcctcatcctcctcttcctcttcct	0.437														1756	0.350639	0.1596	0.3559	5008	,	,		19419	0.5446		0.2753	False		,,,				2504	0.4826																0								ENSG00000143401		,,	627,3639		79,469,1585					,,	-6.5	0		dbSNP_130	261	1908,6340		294,1320,2510	no	coding,coding,coding	ANP32E	NM_030920.3,NM_001136479.1,NM_001136478.2	,,	373,1789,4095	A1A1,A1R,RR		23.1329,14.6976,20.2573	,,	,,		2535,9979				ANP32E	SO:0001651	inframe_deletion	0				HGNC	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.576_581delAGAGGA	1.37:g.150199046_150199051delTCCTCT	ENSP00000324074:p.Glu192_Glu193del	Somatic					0.509313648659363	248	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	In_Frame_Del	DEL							pfam_Leu-rich_rpt	p.EE193in_frame_del	ENST00000314136.8	37	c.581_576	CCDS946.1	1																																																																																			-	NULL		0.437	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32E	protein_coding	OTTHUMT00000035056.1	TCCTCT	NM_030920			150199045	-1	no_errors	ENST00000314136	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.006:0.000:0.058:0.106:0.091	-	-	150199045	TCCTCT	-	150199040	7	5	218	1	0	1	0	1	0	0	0	0	709	1551	54	0	237	0	ANP32E	1	150199040	In_Frame_Del	DEL	TCCTCT	TCGA-UE-A6QU-01A-12D-A32I-09	35699132	150199040	99051581	3	17667											
GPA33	10223	genome.wustl.edu	37	chr1	167025040	167025040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtacagatgtagtaaccCgatgtgtctgtggagatatt	13	5	1	2	rs149640714	byFrequency	TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:167025040C>T	ENST00000367868.3	-	5	961	c.618G>A	c.(616-618)tcG>tcA	p.S206S	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	206	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTAGTAACCCGATGTGTCTG	0.567																																																	0								ENSG00000143167	C		0,4406		0,0,2203	152	124	133		618	-9.8	0	1	dbSNP_134	133	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	GPA33	NM_005814.1		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		206/320	167025040	6,13000	2203	4300	6503	GPA33	SO:0001819	synonymous_variant	0			-	HGNC	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.618G>A	1.37:g.167025040C>T		Somatic	0	57	0		0.509313648659363	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	20.00	Q5VZP6	Silent	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S206	ENST00000367868.3	37	c.618	CCDS1258.1	1																																																																																			-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.567	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPA33	protein_coding	OTTHUMT00000083245.1	C	NM_005814	rs149640714		167025040	-1	no_errors	ENST00000367868	ensembl	human	known	74_37	silent	SNP	0.003	T	T	167025040	C	T	167025040	2	4	218	1	0	0	0	0	0	0	0	1	6588	639	23	1		1	GPA33	1	167025040	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	16826000	167025040	82225581	4	17668											
LGR6	59352	genome.wustl.edu	37	chr1	202183341	202183341	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaacctctcccgggctgGgagtgcacggcgcggtgcgc	16	14	1	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:202183341G>A	ENST00000367278.3	+	2	301				LGR6_ENST00000439764.2_Missense_Mutation_p.G20E|LGR6_ENST00000255432.7_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCCGGGCTGGGAGTGCACGG	0.697																																																	0								ENSG00000133067						13	15	14					1																	202183341		2181	4291	6472	LGR6	SO:0001627	intron_variant	0			-	HGNC	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.213-11210G>A	1.37:g.202183341G>A		Somatic	0	77	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	44	37.14	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.G20E	ENST00000367278.3	37	c.59	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435490	0.25813	.	.	ENSG00000133067	ENST00000439764	T	0.51071	0.72	2.43	1.07	0.20283	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.09310	N	1	B	0.29037	0.231	B	0.26969	0.075	T	0.16867	-1.0388	8	0.24483	T	0.36	.	4.8638	0.13598	0.2389:0.0:0.7611:0.0	.	20	Q9HBX8-1	.	E	20	ENSP00000387869:G20E	ENSP00000387869:G20E	G	+	2	0	LGR6	200449964	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.009000	0.13219	0.305000	0.22832	0.313000	0.20887	GGG	-	NULL		0.697	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	protein_coding	OTTHUMT00000099143.1	G	NM_021636	-		202183341	1	no_errors	ENST00000439764	ensembl	human	known	74_37	missense	SNP	0.001	A	A	202183341	G	A	202183341	1	1	218	0	1	0	0	0	0	0	0	0	8760	1232	43	2		2	LGR6	1	202183341	Intron	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	35158301	202183341	47067280	5	17669											
FMN2	56776	genome.wustl.edu	37	chr1	240255905	240255905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgaggatgtggaaactGcagcaggggcgcaggatgga	18	8	0	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:240255905G>T	ENST00000319653.9	+	1	726	c.496G>T	c.(496-498)Gca>Tca	p.A166S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	166					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTGGAAACTGCAGCAGGGGC	0.622																																																	0								ENSG00000155816						51	54	53					1																	240255905		2203	4300	6503	FMN2	SO:0001583	missense	0			-	HGNC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.496G>T	1.37:g.240255905G>T	ENSP00000318884:p.Ala166Ser	Somatic	0	104	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	130	12.75	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.A166S	ENST00000319653.9	37	c.496	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299647	0.23650	.	.	ENSG00000155816	ENST00000319653	T	0.31247	1.5	4.35	3.35	0.38373	.	0.611150	0.15147	N	0.277944	T	0.26484	0.0647	L	0.47716	1.5	0.39453	D	0.967444	B	0.25312	0.123	B	0.21360	0.034	T	0.10222	-1.0639	10	0.34782	T	0.22	.	11.5928	0.50955	0.0:0.0:0.8222:0.1778	.	166	Q9NZ56	FMN2_HUMAN	S	166	ENSP00000318884:A166S	ENSP00000318884:A166S	A	+	1	0	FMN2	238322528	.	.	0.118000	0.21660	0.584000	0.36387	.	.	2.125000	0.65367	0.313000	0.20887	GCA	-	NULL		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	G	XM_371352	-		240255905	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	SNP	0.029	T	T	240255905	G	T	240255905	3	4	218	1	0	0	0	0	1	0	0	0	5952	1319	46	3	498	3	FMN2	1	240255905	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	38072564	240255905	8994716	6	17670											
ZNF692	55657	genome.wustl.edu	37	chr1	249150493	249150493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccccaacttgctcatctGgggaggagctgtaggtccat	11	12	2	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr1:249150493G>T	ENST00000306601.4	-	6	819	c.653C>A	c.(652-654)cCa>cAa	p.P218Q	ZNF692_ENST00000451251.1_Missense_Mutation_p.P223Q|ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000468455.1_5'UTR|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000366471.3_Intron|ZNF692_ENST00000366469.5_Missense_Mutation_p.P218Q	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	218					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(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTGCTCATCTGGGGAGGAGCT	0.547																																																	0								ENSG00000171163						167	140	149					1																	249150493		2203	4300	6503	ZNF692	SO:0001583	missense	0			-	HGNC	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.653C>A	1.37:g.249150493G>T	ENSP00000305483:p.Pro218Gln	Somatic	0	44	0		0.509313648659363	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P223Q	ENST00000306601.4	37	c.668	CCDS31127.1	1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472059	0.63737	.	.	ENSG00000171163	ENST00000306601;ENST00000366469;ENST00000451251	T;T;T	0.08008	3.15;3.17;3.14	4.72	4.72	0.59763	.	0.368123	0.23943	N	0.043026	T	0.13372	0.0324	M	0.63428	1.95	0.80722	D	1	P;P	0.48911	0.917;0.917	P;P	0.47470	0.548;0.548	T	0.08229	-1.0732	10	0.14656	T	0.56	-3.5913	13.3852	0.60791	0.0:0.0:1.0:0.0	.	223;218	B4DXZ0;Q9BU19	.;ZN692_HUMAN	Q	218;218;223	ENSP00000305483:P218Q;ENSP00000355425:P218Q;ENSP00000391200:P223Q	ENSP00000305483:P218Q	P	-	2	0	ZNF692	247117116	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.815000	0.48018	2.626000	0.88956	0.462000	0.41574	CCA	-	NULL		0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	protein_coding	OTTHUMT00000097298.1	G	NM_017865	-		249150493	-1	no_errors	ENST00000451251	ensembl	human	known	74_37	missense	SNP	1.000	T	T	249150493	G	T	249150493	3	4	218	1	0	0	0	0	1	0	0	0	18104	1348	47	3	934	3	ZNF692	1	249150493	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	8894588	249150493	100128	7	17671											
MATN3	4148	genome.wustl.edu	37	chr2	20196958	20196958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcacagtggtaggatgCggccccatcactcacacaaa	9	13	3	0	rs544319732		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr2:20196958C>T	ENST00000407540.3	-	6	1293	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.A369T	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	411	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTAGGATGCGGCCCCATCA	0.488																																																	0								ENSG00000132031						70	67	68					2																	20196958		1998	4162	6160	MATN3	SO:0001583	missense	0			-	HGNC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1231G>A	2.37:g.20196958C>T	ENSP00000383894:p.Ala411Thr	Somatic	0	22	0		0.509313648659363	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B2CPU0|Q4ZG02	Missense_Mutation	SNP							pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.A411T	ENST00000407540.3	37	c.1231	CCDS46226.1	2	.	.	.	.	.	.	.	.	.	.	C	2.261	-0.369336	0.05069	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.96300	-3.97;-3.97	6.17	3.37	0.38596	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.731382	0.12411	N	0.471244	D	0.89770	0.6811	N	0.12663	0.25	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.81093	-0.1089	10	0.46703	T	0.11	-8.1278	5.544	0.17053	0.0:0.6164:0.1415:0.2421	.	369;411	B2CPU0;O15232	.;MATN3_HUMAN	T	411;369	ENSP00000383894:A411T;ENSP00000398753:A369T	ENSP00000383894:A411T	A	-	1	0	MATN3	20060439	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	-0.341000	0.07811	0.446000	0.26666	-0.137000	0.14449	GCA	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.488	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	protein_coding	OTTHUMT00000323925.1	C	NM_002381	-		20196958	-1	no_errors	ENST00000407540	ensembl	human	known	74_37	missense	SNP	0.000	T	T	20196958	C	T	20196958	3	4	218	1	0	0	0	0	1	0	0	0	9337	768	27	1	241	1	MATN3	2	20196958	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		20196958	223002415	8	17672											
RTN4	57142	genome.wustl.edu	37	chr2	55254362	55254363	+	Frame_Shift_Del	DEL	CT	CT	-													gagtattctaattctgaaaaCtctgttaaatctctatctat							TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr2:55254362_55254363delCT	ENST00000337526.6	-	3	1115_1116	c.872_873delAG	c.(871-873)gagfs	p.E291fs	RTN4_ENST00000394611.2_Frame_Shift_Del_p.E85fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000405240.1_Frame_Shift_Del_p.E85fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Del_p.E85fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.E85fs|RTN4_ENST00000354474.6_Splice_Site_p.Q59fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	291					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATTCTGAAAACTCTGTTAAATC	0.381																																																	0								ENSG00000115310																																			RTN4	SO:0001589	frameshift_variant	0				HGNC	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.872_873delAG	2.37:g.55254364_55254365delCT	ENSP00000337838:p.Glu291fs	Somatic	0	61	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	56	18.84	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Del	DEL							pfam_Reticulon,pfscan_Reticulon	p.E291fs	ENST00000337526.6	37	c.873_872	CCDS42684.1	2																																																																																			-	NULL		0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	protein_coding	OTTHUMT00000251484.1	CT				55254363	-1	no_errors	ENST00000337526	ensembl	human	known	74_37	frame_shift_del	DEL	0.082:0.235	-	-	55254363	CT	-	55254362	7	5	218	1	0	1	0	1	0	0	0	0	13736	564	20	0	2771	0	RTN4	2	55254362	Frame_Shift_Del	DEL	CT	TCGA-UE-A6QU-01A-12D-A32I-09	35057404	55254362	187945011	9	17673											
PTPRN	5798	genome.wustl.edu	37	chr2	220167489	220167489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctgggcagcaggggCggagccagtggggatgtcct	19	10	0	0	rs201131601		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr2:220167489C>T	ENST00000295718.2	-	5	688	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PTPRN_ENST00000409251.3_Missense_Mutation_p.A150T|PTPRN_ENST00000423636.2_Missense_Mutation_p.A60T|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	150					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)		GCAGCAGGGGCGGAGCCAGTG	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		17241	0		0	False		,,,				2504	0																0								ENSG00000054356						55	63	60					2																	220167489		2202	4300	6502	PTPRN	SO:0001583	missense	0			GMAF=0.0005	HGNC		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.448G>A	2.37:g.220167489C>T	ENSP00000295718:p.Ala150Thr	Somatic	0	68	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A150T	ENST00000295718.2	37	c.448	CCDS2440.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.578	0.107402	0.08780	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000536579;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	T;T;T	0.03607	3.87;3.91;3.88	4.79	-0.6	0.11642	.	0.613056	0.13780	N	0.363294	T	0.02688	0.0081	L	0.40543	1.245	0.09310	N	1	B;B	0.17268	0.021;0.01	B;B	0.06405	0.002;0.001	T	0.47983	-0.9074	10	0.13853	T	0.58	.	4.4008	0.11385	0.1616:0.3673:0.0:0.4711	.	150;150	Q6NSL1;Q16849	.;PTPRN_HUMAN	T	150;150;150;60;150;60;60;117;60;60	ENSP00000386638:A150T;ENSP00000295718:A150T;ENSP00000444244:A60T	ENSP00000295718:A150T	A	-	1	0	PTPRN	219875733	0.090000	0.21635	0.029000	0.17559	0.043000	0.13939	-0.052000	0.11865	-0.053000	0.13289	0.561000	0.74099	GCC	-	NULL		0.622	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	C		rs201131601		220167489	-1	no_errors	ENST00000295718	ensembl	human	known	74_37	missense	SNP	0.011	T	T	220167489	C	T	220167489	3	4	218	1	0	0	0	0	1	0	0	0	12815	768	27	1	2567	1	PTPRN	2	220167489	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	164913127	220167489	23031884	10	17674											
RARB	5915	genome.wustl.edu	37	chr3	25622051	25622051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagaattccagtgctgaCcatcgagtccgactggacct	9	13	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr3:25622051C>T	ENST00000404969.1	+	5	645	c.645C>T	c.(643-645)gaC>gaT	p.D215D	RARB_ENST00000437042.2_Silent_p.D96D|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.D96D|RARB_ENST00000330688.4_Silent_p.D208D			P10826	RARB_HUMAN	retinoic acid receptor, beta	215	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAGTGCTGACCATCGAGTCC	0.473																																																	0								ENSG00000077092						93	86	88					3																	25622051		2203	4300	6503	RARB	SO:0001819	synonymous_variant	0			-	HGNC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.645C>T	3.37:g.25622051C>T		Somatic	0	71	0		0.509313648659363	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	73	13.10	P12891|Q00989|Q15298|Q9UN48	Silent	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.D215	ENST00000404969.1	37	c.645		3																																																																																			-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.473	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		C	NM_000965, NM_016152	-		25622051	1	no_errors	ENST00000404969	ensembl	human	known	74_37	silent	SNP	0.997	T	T	25622051	C	T	25622051	2	4	218	1	0	0	0	0	0	0	0	1	13061	506	18	2		2	RARB	3	25622051	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		25622051	172400379	11	17675											
TRAK1	22906	genome.wustl.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGAGGA													caggagccgccagcggccacINSggaggaggaggaggaggagg					rs10634555|rs35624871		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr3:42251577_42251578insGGAGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_In_Frame_Ins_p.639_640insEE	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					GBM(44;195 884 22595 31865 41850)												1	Deletion - In frame(1)	kidney(1)						ENSG00000182606																																			TRAK1	SO:0001627	intron_variant	0				HGNC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGAGGA	3.37:g.42251578_42251583dupGGAGGA		Somatic					0.509313648659363	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS							pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.634in_frame_insEE	ENST00000327628.5	37	c.1889_1890	CCDS43072.1	3																																																																																			-	NULL		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	protein_coding	OTTHUMT00000343413.1	-	NM_014965			42251578	1	no_errors	ENST00000341421	ensembl	human	known	74_37	in_frame_ins	INS	0.010:0.044	GGAGGA	GGAGGA	42251578	-	GGAGGA	42251577	6	5	218	0	1	1	1	0	0	0	0	0	16456	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-UE-A6QU-01A-12D-A32I-09	16629526	42251577	155770853	12	17676											
FAM13A	10144	genome.wustl.edu	37	chr4	89772181	89772181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgccaacctgggtaccaActtggcactaatagcaccct	7	14	0	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr4:89772181A>G	ENST00000264344.5	-	7	1204	c.997T>C	c.(997-999)Ttg>Ctg	p.L333L	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	333					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGGGTACCAACTTGGCACTA	0.428																																																	0								ENSG00000138640						168	166	166					4																	89772181		2203	4300	6503	FAM13A	SO:0001819	synonymous_variant	0			-	HGNC	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.997T>C	4.37:g.89772181A>G		Somatic	0	64	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	37	28.85	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L333	ENST00000264344.5	37	c.997	CCDS34029.1	4																																																																																			-	NULL		0.428	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	protein_coding	OTTHUMT00000363371.1	A		-		89772181	-1	no_errors	ENST00000264344	ensembl	human	known	74_37	silent	SNP	0.000	G	G	89772181	A	G	89772181	2	3	218	1	0	0	0	0	0	0	0	1	5454	40	2	5		5	FAM13A	4	89772181	Silent	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09		89772181	101382095	13	17677											
ERCC8	1161	genome.wustl.edu	37	chr5	60199496	60199496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagaatgtgagaacaggAtccagacttcaagtcacaaa	9	8	2	3			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:60199496A>T	ENST00000265038.5	-	6	571	c.529T>A	c.(529-531)Tcc>Acc	p.S177T	ERCC8_ENST00000543101.1_Missense_Mutation_p.S24T|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.S119T	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	177					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TGAGAACAGGATCCAGACTTC	0.328																																																	0								ENSG00000049167						75	79	78					5																	60199496		2203	4300	6503	ERCC8	SO:0001583	missense	0			-	HGNC	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.529T>A	5.37:g.60199496A>T	ENSP00000265038:p.Ser177Thr	Somatic	0	72	0		0.509313648659363	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S177T	ENST00000265038.5	37	c.529	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883478	0.72410	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596;ENST00000439176	T;T;T;T	0.63255	0.26;0.26;0.26;-0.03	6.03	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053369	0.85682	D	0.000000	T	0.47507	0.1449	N	0.25992	0.78	0.80722	D	1	P;B;B	0.44380	0.834;0.067;0.17	B;B;B	0.38500	0.275;0.023;0.089	T	0.45673	-0.9245	10	0.44086	T	0.13	-9.6012	11.6426	0.51242	0.7177:0.2823:0.0:0.0	.	24;177;177	B4DGZ9;Q13216-2;Q13216	.;.;ERCC8_HUMAN	T	119;177;24;176;119	ENSP00000400110:S119T;ENSP00000265038:S177T;ENSP00000441732:S24T;ENSP00000408344:S119T	ENSP00000265038:S177T	S	-	1	0	ERCC8	60235253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.853000	0.62911	1.084000	0.41184	-0.478000	0.04885	TCC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.328	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	protein_coding	OTTHUMT00000214971.2	A	NM_000082	-		60199496	-1	no_errors	ENST00000265038	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60199496	A	T	60199496	3	4	218	1	0	0	0	0	1	0	0	0	5221	333	12	5	689	5	ERCC8	5	60199496	Missense_Mutation	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09		60199496	120715764	14	17678											
MAP1B	4131	genome.wustl.edu	37	chr5	71495628	71495628	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgaaacccctcccacctCagtcagcgagtcagccccat	7	17	3	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:71495628C>A	ENST00000296755.7	+	5	6744	c.6446C>A	c.(6445-6447)tCa>tAa	p.S2149*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2149					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)		CCTCCCACCTCAGTCAGCGAG	0.587																																					Melanoma(17;367 822 11631 31730 47712)												0								ENSG00000131711						90	81	84					5																	71495628		2203	4300	6503	MAP1B	SO:0001587	stop_gained	0			-	HGNC	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.6446C>A	5.37:g.71495628C>A	ENSP00000296755:p.Ser2149*	Somatic	0	33	0		0.509313648659363	191	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A2BDK5	Nonsense_Mutation	SNP							pfam_MAP1B_neuraxin	p.S2149*	ENST00000296755.7	37	c.6446	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	48	14.872371	0.99813	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.82	5.82	0.92795	.	0.000000	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7908	20.0953	0.97838	0.0:1.0:0.0:0.0	.	.	.	.	X	2149	.	ENSP00000296755:S2149X	S	+	2	0	MAP1B	71531384	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	TCA	-	NULL		0.587	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	C	NM_005909	-		71495628	1	no_errors	ENST00000296755	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	71495628	C	A	71495628	4	1	218	1	0	0	0	0	0	1	0	0	9230	838	29	3	6464	3	MAP1B	5	71495628	Nonsense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	11296132	71495628	109419632	15	17679											
RASGRF2	5924	genome.wustl.edu	37	chr5	80503117	80503117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcggccatggagctggCagaacagatcaccctcctgg	12	13	1	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:80503117C>A	ENST00000265080.4	+	21	3087	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1007	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGGAGCTGGCAGAACAGATC	0.567																																																	0								ENSG00000113319						112	97	102					5																	80503117		2203	4300	6503	RASGRF2	SO:0001583	missense	0			-	HGNC	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3020C>A	5.37:g.80503117C>A	ENSP00000265080:p.Ala1007Glu	Somatic	0	47	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B9EG89|Q9UK56	Missense_Mutation	SNP							pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A1007E	ENST00000265080.4	37	c.3020	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839700	0.91117	.	.	ENSG00000113319	ENST00000265080	T	0.71934	-0.61	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93685	0.7002	10	0.87932	D	0	.	18.4707	0.90773	0.0:1.0:0.0:0.0	.	1007	O14827	RGRF2_HUMAN	E	1007	ENSP00000265080:A1007E	ENSP00000265080:A1007E	A	+	2	0	RASGRF2	80538873	1.000000	0.71417	0.955000	0.39395	0.818000	0.46254	7.818000	0.86416	2.462000	0.83206	0.555000	0.69702	GCA	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.567	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	protein_coding	OTTHUMT00000239215.2	C	NM_006909	-		80503117	1	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80503117	C	A	80503117	3	1	218	1	0	0	0	0	1	0	0	0	13081	710	25	3	3102	3	RASGRF2	5	80503117	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	9007489	80503117	100412143	16	17680											
FGFR4	2264	genome.wustl.edu	37	chr5	176520502	176520502	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccgccttgctcgccggcctCgtgagtctagatctacctct	9	17	3	2	rs542115984		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:176520502C>A	ENST00000292408.4	+	10	1592	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L	FGFR4_ENST00000292410.3_Silent_p.L409L|FGFR4_ENST00000502906.1_Silent_p.L449L|FGFR4_ENST00000393648.2_Splice_Site_p.S398*|FGFR4_ENST00000393637.1_Silent_p.L409L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	449					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	TCGCCGGCCTCGTGAGTCTAG	0.672										TSP Lung(9;0.080)																																							0								ENSG00000160867						66	72	70					5																	176520502		2203	4300	6503	FGFR4	SO:0001819	synonymous_variant	0			-	HGNC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1347C>A	5.37:g.176520502C>A		Somatic	0	37	0		0.509313648659363	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Nonsense_Mutation	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S398*	ENST00000292408.4	37	c.1193	CCDS4410.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.39|17.39	3.378465|3.378465	0.61735|0.61735	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000511076|ENST00000393648	.|.	.|.	.|.	4.44|4.44	-2.8|-2.8	0.05823|0.05823	.|.	.|.	.|.	.|.	.|.	T|.	0.57607|.	0.2065|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57277|.	-0.7839|.	4|.	.|0.36615	.|T	.|0.2	.|.	11.1627|11.1627	0.48524|0.48524	0.0:0.4536:0.0:0.5464|0.0:0.4536:0.0:0.5464	.|.	.|.	.|.	.|.	S|X	81|398	.|.	.|ENSP00000377259:S398X	R|S	+|+	1|2	0|0	FGFR4|FGFR4	176453108|176453108	0.459000|0.459000	0.25768|0.25768	0.973000|0.973000	0.42090|0.42090	0.152000|0.152000	0.21847|0.21847	-0.099000|-0.099000	0.11007|0.11007	-0.422000|-0.422000	0.07405|0.07405	-0.266000|-0.266000	0.10368|0.10368	CGT|TCG	-	pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom		0.672	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	C		-		176520502	1	no_errors	ENST00000393648	ensembl	human	novel	74_37	nonsense	SNP	0.997	A	A	176520502	C	A	176520502	2	1	218	1	0	0	0	0	0	0	0	1	5870	871	31	3		3	FGFR4	5	176520502	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	96017385	176520502	4394758	17	17681											
FLT4	2324	genome.wustl.edu	37	chr5	180048109	180048109	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggccaccctccctaccagActtttcctccagcagcctct	6	19	1	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:180048109A>T	ENST00000261937.6	-	14	2242	c.2164T>A	c.(2164-2166)Tct>Act	p.S722T	FLT4_ENST00000393347.3_Missense_Mutation_p.S722T|FLT4_ENST00000502649.1_Missense_Mutation_p.S722T|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	722	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|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)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCTACCAGACTTTTCCTCC	0.672																																					Colon(97;1075 1466 27033 27547 35871)												0								ENSG00000037280						24	25	25					5																	180048109		2201	4292	6493	FLT4	SO:0001583	missense	0			-	HGNC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2164T>A	5.37:g.180048109A>T	ENSP00000261937:p.Ser722Thr	Somatic	0	47	0		0.509313648659363	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	101	9.01	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.S722T	ENST00000261937.6	37	c.2164	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	A	22.6	4.304916	0.81247	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.82619	-1.63;-1.63;-1.63	4.4	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90215	0.6941	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.71674	0.998;0.972;0.972;0.972	D;D;P;P	0.73380	0.98;0.911;0.861;0.895	D	0.91406	0.5147	9	0.66056	D	0.02	.	13.963	0.64193	1.0:0.0:0.0:0.0	.	722;532;722;722	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	T	722;722;722;532	ENSP00000261937:S722T;ENSP00000377016:S722T;ENSP00000426057:S722T	ENSP00000261937:S722T	S	-	1	0	FLT4	179980715	1.000000	0.71417	0.972000	0.41901	0.761000	0.43186	8.187000	0.89708	1.770000	0.52166	0.379000	0.24179	TCT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	A		-		180048109	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	SNP	1.000	T	T	180048109	A	T	180048109	3	4	218	1	0	0	0	0	1	0	0	0	5946	275	10	5	2003	5	FLT4	5	180048109	Missense_Mutation	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09	3527607	180048109	867151	18	17682											
TRIM7	81786	genome.wustl.edu	37	chr5	180622493	180622493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagccgtccttagagccCacctccacctcccagtgatg	8	19	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:180622493C>T	ENST00000274773.7	-	7	1270	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	TRIM7_ENST00000393319.3_Silent_p.V221V|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393315.1_Silent_p.V195V|TRIM7_ENST00000361809.3_Silent_p.V195V|TRIM7_ENST00000422067.2_Silent_p.V195V	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	403	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCTTAGAGCCCACCTCCACCT	0.711																																					Esophageal Squamous(128;2258 2308 35507 48647)												0								ENSG00000146054						19	21	20					5																	180622493		2186	4266	6452	TRIM7	SO:0001819	synonymous_variant	0			-	HGNC	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1209G>A	5.37:g.180622493C>T		Somatic	0	37	0		0.509313648659363	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	77	17.20	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.V403	ENST00000274773.7	37	c.1209	CCDS4462.1	5																																																																																			-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.711	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	protein_coding	OTTHUMT00000253569.3	C	NM_203296	-		180622493	-1	no_errors	ENST00000274773	ensembl	human	known	74_37	silent	SNP	0.998	T	T	180622493	C	T	180622493	2	4	218	1	0	0	0	0	0	0	0	1	16550	581	21	2		2	TRIM7	5	180622493	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	574384	180622493	292767	19	17683											
TRIM7	81786	genome.wustl.edu	37	chr5	180622664	180622664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttggccgtgtcgggatcCaaggtgagctccactgcaga	16	10	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr5:180622664C>T	ENST00000274773.7	-	7	1099	c.1038G>A	c.(1036-1038)ttG>ttA	p.L346L	TRIM7_ENST00000393319.3_Silent_p.L164L|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000393315.1_Silent_p.L138L|TRIM7_ENST00000361809.3_Silent_p.L138L|TRIM7_ENST00000422067.2_Silent_p.L138L	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGTCGGGATCCAAGGTGAGCT	0.662																																					Esophageal Squamous(128;2258 2308 35507 48647)												0								ENSG00000146054						42	49	47					5																	180622664		2159	4170	6329	TRIM7	SO:0001819	synonymous_variant	0			-	HGNC	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1038G>A	5.37:g.180622664C>T		Somatic	0	101	0		0.509313648659363	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	215	11.52	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.L346	ENST00000274773.7	37	c.1038	CCDS4462.1	5																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.662	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	protein_coding	OTTHUMT00000253569.3	C	NM_203296	-		180622664	-1	no_errors	ENST00000274773	ensembl	human	known	74_37	silent	SNP	1.000	T	T	180622664	C	T	180622664	2	4	218	1	0	0	0	0	0	0	0	1	16550	593	21	2		2	TRIM7	5	180622664	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	171	180622664	292596	20	17684											
BTN1A1	696	genome.wustl.edu	37	chr6	26509300	26509300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgcccaggacctttctaaGgagatcccattgtcccccat	7	14	1	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr6:26509300G>T	ENST00000244513.6	+	7	1545	c.1479G>T	c.(1477-1479)aaG>aaT	p.K493N		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	493						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ACCTTTCTAAGGAGATCCCAT	0.547																																																	0								ENSG00000124557						93	94	94					6																	26509300		2203	4300	6503	BTN1A1	SO:0001583	missense	0			-	HGNC	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1479G>T	6.37:g.26509300G>T	ENSP00000244513:p.Lys493Asn	Somatic	0	49	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.K493N	ENST00000244513.6	37	c.1479	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.38077	1.16	5.13	4.24	0.50183	.	0.603673	0.16787	N	0.199534	T	0.21718	0.0523	L	0.32530	0.975	0.27431	N	0.954013	D	0.57257	0.979	P	0.54270	0.747	T	0.04386	-1.0955	10	0.33940	T	0.23	.	6.815	0.23824	0.0902:0.0:0.7354:0.1744	.	493	Q13410	BT1A1_HUMAN	N	493;461	ENSP00000244513:K493N	ENSP00000244513:K493N	K	+	3	2	BTN1A1	26617279	0.983000	0.35010	0.937000	0.37676	0.587000	0.36485	4.291000	0.59025	2.658000	0.90341	0.655000	0.94253	AAG	-	NULL		0.547	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	protein_coding	OTTHUMT00000043776.1	G	NM_001732	-		26509300	1	no_errors	ENST00000244513	ensembl	human	known	74_37	missense	SNP	0.851	T	T	26509300	G	T	26509300	3	4	218	1	0	0	0	0	1	0	0	0	1561	991	35	3	1505	3	BTN1A1	6	26509300	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09		26509300	144605767	21	17685											
GRM4	2914	genome.wustl.edu	37	chr6	34003463	34003463	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcggccgactgcgaGgtgccaaagaagatggggat	15	9	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr6:34003463G>C	ENST00000538487.2	-	9	2867	c.2424C>G	c.(2422-2424)acC>acG	p.T808T	GRM4_ENST00000374181.4_Silent_p.T808T|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.T668T|GRM4_ENST00000374177.3_Silent_p.T692T|GRM4_ENST00000609222.1_Silent_p.T675T|GRM4_ENST00000544773.2_Silent_p.T639T|GRM4_ENST00000535756.1_Silent_p.T675T	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	808					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCGACTGCGAGGTGCCAAAGA	0.647																																																	0								ENSG00000124493						61	48	52					6																	34003463		2203	4300	6503	GRM4	SO:0001819	synonymous_variant	0			-	HGNC	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2424C>G	6.37:g.34003463G>C		Somatic	0	50	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.37	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.T808	ENST00000538487.2	37	c.2424	CCDS4787.1	6																																																																																			-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	protein_coding	OTTHUMT00000040213.2	G		-		34003463	-1	no_errors	ENST00000374181	ensembl	human	known	74_37	silent	SNP	0.996	C	C	34003463	G	C	34003463	2	2	218	1	0	0	0	0	0	0	0	1	6801	987	35	4		4	GRM4	6	34003463	Silent	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	7494163	34003463	137111604	22	17686											
STK38	11329	genome.wustl.edu	37	chr6	36492187	36492187	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatccaagtcttgttctcttCaaacgaagaaactctgtttc	5	10	4	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr6:36492187C>T	ENST00000229812.7	-	4	522	c.237G>A	c.(235-237)ttG>ttA	p.L79L	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGTTCTCTTCAAACGAAGAA	0.393																																					Colon(180;997 3561 16158)												0								ENSG00000112079						135	132	133					6																	36492187		2203	4300	6503	STK38	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.237G>A	6.37:g.36492187C>T		Somatic	0	76	0		0.509313648659363	88	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.L79	ENST00000229812.7	37	c.237	CCDS4822.1	6																																																																																			-	superfamily_Kinase-like_dom		0.393	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	protein_coding	OTTHUMT00000040346.1	C	NM_007271	-		36492187	-1	no_errors	ENST00000229812	ensembl	human	known	74_37	silent	SNP	0.997	T	T	36492187	C	T	36492187	2	4	218	1	0	0	0	0	0	0	0	1	15310	825	29	2		2	STK38	6	36492187	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	2488724	36492187	134622880	23	17687											
DST	667	genome.wustl.edu	37	chr6	56358840	56358840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtttggtttccaccgattCccatttttctttcaagttat	6	9	2	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr6:56358840C>T	ENST00000361203.3	-	78	19409	c.19402G>A	c.(19402-19404)Gaa>Aaa	p.E6468K	DST_ENST00000244364.6_Missense_Mutation_p.E4165K|DST_ENST00000446842.2_Missense_Mutation_p.E6253K|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E6579K|DST_ENST00000421834.2_Missense_Mutation_p.E4491K|DST_ENST00000340834.4_5'Flank|DST_ENST00000370788.2_Missense_Mutation_p.E4382K|DST_ENST00000370754.5_Missense_Mutation_p.E6757K			Q03001	DYST_HUMAN	dystonin	6468					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)			TCCACCGATTCCCATTTTTCT	0.363																																																	0								ENSG00000151914						173	149	156					6																	56358840		1822	4089	5911	DST	SO:0001583	missense	0			-	HGNC	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.19402G>A	6.37:g.56358840C>T	ENSP00000354508:p.Glu6468Lys	Somatic	0	42	0		0.509313648659363	100	49.49	98	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	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							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E6757K	ENST00000361203.3	37	c.20269		6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701333	0.88924	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.87	5.87	0.94306	.	0.106317	0.41294	D	0.000905	T	0.58609	0.2134	M	0.63843	1.955	0.33074	D	0.535711	D;D;D;P;P	0.89917	0.999;1.0;1.0;0.928;0.584	D;D;D;P;B	0.91635	0.998;0.999;0.998;0.61;0.257	T	0.45542	-0.9254	9	0.16896	T	0.51	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	4491;6579;6757;6577;4165	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	4165;6757;6579;4491;6253;4382;6468	ENSP00000244364:E4165K;ENSP00000359790:E6757K;ENSP00000359805:E6579K;ENSP00000400883:E4491K;ENSP00000393645:E6253K;ENSP00000359824:E4382K;ENSP00000354508:E6468K	ENSP00000244364:E4165K	E	-	1	0	DST	56466799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.028000	0.76470	2.785000	0.95823	0.655000	0.94253	GAA	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	C	NM_001723	-		56358840	-1	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56358840	C	T	56358840	3	4	218	1	0	0	0	0	1	0	0	0	4785	864	30	2	3106	2	DST	6	56358840	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	19866653	56358840	114756227	24	17688											
HEATR2	54919	genome.wustl.edu	37	chr7	796579	796579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccctccagccgcacctggCagccatcgccacagagctgg	11	18	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr7:796579C>A	ENST00000297440.6	+	6	1438	c.1418C>A	c.(1417-1419)gCa>gAa	p.A473E	HEATR2_ENST00000313147.5_Missense_Mutation_p.A473E	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	473						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCGCACCTGGCAGCCATCGCC	0.647																																																	0								ENSG00000164818						32	36	35					7																	796579		2202	4300	6502	HEATR2	SO:0001583	missense	0			-	HGNC	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1418C>A	7.37:g.796579C>A	ENSP00000297440:p.Ala473Glu	Somatic	0	17	0		0.509313648659363	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A473E	ENST00000297440.6	37	c.1418	CCDS34580.1	7	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.164113	0.00318	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.64085	-0.08;-0.08	5.49	-2.01	0.07410	Armadillo-like helical (1);Armadillo-type fold (1);	1.126930	0.06449	N	0.727322	T	0.37019	0.0988	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.12837	0.003;0.008	T	0.29610	-1.0006	10	0.02654	T	1	-14.4175	7.5438	0.27755	0.1898:0.5691:0.0602:0.1809	.	473;219	Q86Y56;F5H8D4	HEAT2_HUMAN;.	E	473;473;219	ENSP00000297440:A473E;ENSP00000321451:A473E	ENSP00000297440:A473E	A	+	2	0	HEATR2	763105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.074000	0.14662	-0.578000	0.05959	-1.114000	0.02060	GCA	-	superfamily_ARM-type_fold		0.647	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR2	protein_coding	OTTHUMT00000322542.1	C	NM_017802	-		796579	1	no_errors	ENST00000297440	ensembl	human	known	74_37	missense	SNP	0.000	A	A	796579	C	A	796579	3	1	218	1	0	0	0	0	1	0	0	0	7030	710	25	3	1440	3	HEATR2	7	796579	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		796579	158342084	25	17689											
ADAM22	53616	genome.wustl.edu	37	chr7	87746112	87746112	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactgtttgaattttcctTggatgatcttccatctggta	8	8	2	3			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr7:87746112T>G	ENST00000265727.7	+	7	669	c.590T>G	c.(589-591)tTg>tGg	p.L197W	ADAM22_ENST00000398204.4_Missense_Mutation_p.L197W|ADAM22_ENST00000398201.4_Missense_Mutation_p.L197W|ADAM22_ENST00000439864.1_Missense_Mutation_p.L197W|ADAM22_ENST00000398209.3_Missense_Mutation_p.L197W|ADAM22_ENST00000315984.7_Missense_Mutation_p.L197W			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	197					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAATTTTCCTTGGATGATCTT	0.318																																																	0								ENSG00000008277						189	170	176					7																	87746112		1855	4100	5955	ADAM22	SO:0001583	missense	0			-	HGNC	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.590T>G	7.37:g.87746112T>G	ENSP00000265727:p.Leu197Trp	Somatic	0	38	0		0.509313648659363	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP							pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L197W	ENST00000265727.7	37	c.590	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015053	0.75161	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.04917	4.38;3.53;4.37;4.37;4.39;4.38;4.38	5.93	5.93	0.95920	.	0.538685	0.18438	N	0.141207	T	0.11707	0.0285	L	0.32530	0.975	0.44694	D	0.997682	P;P;P;P;D;P	0.54964	0.942;0.941;0.902;0.922;0.969;0.902	P;P;P;P;P;P	0.54460	0.571;0.753;0.447;0.729;0.682;0.571	T	0.12785	-1.0534	10	0.34782	T	0.22	.	13.903	0.63817	0.0:0.0:0.0:1.0	.	249;197;197;197;197;197	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	W	197;197;197;197;197;197;164	ENSP00000381262:L197W;ENSP00000391334:L197W;ENSP00000381260:L197W;ENSP00000265727:L197W;ENSP00000315900:L197W;ENSP00000381267:L197W;ENSP00000381261:L164W	ENSP00000265727:L197W	L	+	2	0	ADAM22	87584048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.154000	0.42291	2.271000	0.75665	0.533000	0.62120	TTG	-	NULL		0.318	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	protein_coding	OTTHUMT00000268370.2	T	NM_021723	-		87746112	1	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	SNP	1.000	G	G	87746112	T	G	87746112	3	3	218	1	0	0	0	0	1	0	0	0	244	1821	63	5	616	5	ADAM22	7	87746112	Missense_Mutation	SNP	T	TCGA-UE-A6QU-01A-12D-A32I-09	86949533	87746112	71392551	26	17690											
RBM33	155435	genome.wustl.edu	37	chr7	155457900	155457900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtttgataagcctggCgcggaacggtcgtggagaag	16	8	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr7:155457900C>T	ENST00000401878.3	+	2	273	c.75C>T	c.(73-75)ggC>ggT	p.G25G	RBM33_ENST00000287912.3_Silent_p.G25G|RBM33_ENST00000392759.3_Silent_p.G25G	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	25							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATAAGCCTGGCGCGGAACGGT	0.458																																																	0								ENSG00000184863						118	124	122					7																	155457900		2019	4180	6199	RBM33	SO:0001819	synonymous_variant	0			-	HGNC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.75C>T	7.37:g.155457900C>T		Somatic	0	47	0		0.509313648659363	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP							smart_RRM_dom	p.G25	ENST00000401878.3	37	c.75	CCDS5941.2	7																																																																																			-	NULL		0.458	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	protein_coding	OTTHUMT00000317225.3	C	NM_001008408	-		155457900	1	no_errors	ENST00000401878	ensembl	human	known	74_37	silent	SNP	0.996	T	T	155457900	C	T	155457900	2	4	218	1	0	0	0	0	0	0	0	1	13138	755	27	1		1	RBM33	7	155457900	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	67711788	155457900	3680763	27	17691											
NPM2	10361	genome.wustl.edu	37	chr8	21891645	21891645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagacctaacctgggaggaGgaggaggaagaagaagggga	18	5	1	3			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr8:21891645G>C	ENST00000397940.1	+	6	1405	c.390G>C	c.(388-390)gaG>gaC	p.E130D	NPM2_ENST00000381530.5_Intron|snoU13_ENST00000459495.1_RNA|NPM2_ENST00000521157.1_Missense_Mutation_p.E130D|NPM2_ENST00000520180.1_3'UTR|NPM2_ENST00000518119.1_Missense_Mutation_p.E130D|NPM2_ENST00000289820.6_Missense_Mutation_p.E130D			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	130	Acidic tract A2.|Poly-Glu.				chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CCTGggaggaggaggaggaag	0.507																																																	0								ENSG00000158806						72	73	73					8																	21891645		2203	4300	6503	NPM2	SO:0001583	missense	0			-	HGNC	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.390G>C	8.37:g.21891645G>C	ENSP00000381032:p.Glu130Asp	Somatic	0	37	0		0.509313648659363	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.39	B3KSU0|D3DSQ8|Q6NVH6	Missense_Mutation	SNP							superfamily_Nucleoplasmin_core_dom	p.E130D	ENST00000397940.1	37	c.390	CCDS6018.1	8	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320717	0.23994	.	.	ENSG00000158806	ENST00000521157;ENST00000397940;ENST00000522813;ENST00000518119;ENST00000289820	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.76	-7.13	0.01532	.	0.069465	0.53938	N	0.000047	T	0.15955	0.0384	N	0.11756	0.17	0.09310	N	0.999999	B	0.21071	0.051	B	0.23716	0.048	T	0.34304	-0.9834	10	0.08837	T	0.75	-3.4837	2.2598	0.04064	0.5069:0.1078:0.1568:0.2284	.	130	Q86SE8	NPM2_HUMAN	D	130	ENSP00000429413:E130D;ENSP00000381032:E130D;ENSP00000428016:E130D;ENSP00000427741:E130D;ENSP00000289820:E130D	ENSP00000289820:E130D	E	+	3	2	NPM2	21947591	0.146000	0.22672	0.000000	0.03702	0.000000	0.00434	-1.060000	0.03475	-1.526000	0.01760	-0.136000	0.14681	GAG	-	NULL		0.507	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM2	protein_coding	OTTHUMT00000253810.2	G	NM_182795	-		21891645	1	no_errors	ENST00000397940	ensembl	human	known	74_37	missense	SNP	0.000	C	C	21891645	G	C	21891645	3	2	218	1	0	0	0	0	1	0	0	0	10590	991	35	4	408	4	NPM2	8	21891645	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09		21891645	124472377	28	17692			1	97		2	2	38	G		8.007628e-05
NPM2	10361	genome.wustl.edu	37	chr8	21891682	21891682	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggaggaggaggaagaggaaGaggaagatgatgaggatgag	22	0	0	6			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr8:21891682G>C	ENST00000397940.1	+	6	1442	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	NPM2_ENST00000381530.5_Intron|snoU13_ENST00000459495.1_RNA|NPM2_ENST00000521157.1_Missense_Mutation_p.E143Q|NPM2_ENST00000518119.1_Missense_Mutation_p.E143Q|NPM2_ENST00000289820.6_Missense_Mutation_p.E143Q			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	143	Acidic tract A2.|Poly-Glu.				chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		ggaagaggaagaggaagatga	0.537																																																	0								ENSG00000158806						80	77	78					8																	21891682		2203	4300	6503	NPM2	SO:0001583	missense	0			-	HGNC	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.427G>C	8.37:g.21891682G>C	ENSP00000381032:p.Glu143Gln	Somatic	0	41	0		0.509313648659363	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B3KSU0|D3DSQ8|Q6NVH6	Missense_Mutation	SNP							superfamily_Nucleoplasmin_core_dom	p.E143Q	ENST00000397940.1	37	c.427	CCDS6018.1	8	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034827	0.54896	.	.	ENSG00000158806	ENST00000521157;ENST00000397940;ENST00000518119;ENST00000289820	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	4.62	4.62	0.57501	.	0.270340	0.29376	N	0.012333	T	0.52869	0.1761	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.50381	-0.8835	10	0.42905	T	0.14	-1.3009	13.686	0.62517	0.0:0.0:1.0:0.0	.	143	Q86SE8	NPM2_HUMAN	Q	143	ENSP00000429413:E143Q;ENSP00000381032:E143Q;ENSP00000427741:E143Q;ENSP00000289820:E143Q	ENSP00000289820:E143Q	E	+	1	0	NPM2	21947628	0.008000	0.16893	0.065000	0.19835	0.043000	0.13939	1.134000	0.31442	2.482000	0.83794	0.655000	0.94253	GAG	-	NULL		0.537	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM2	protein_coding	OTTHUMT00000253810.2	G	NM_182795	-		21891682	1	no_errors	ENST00000397940	ensembl	human	known	74_37	missense	SNP	0.458	C	C	21891682	G	C	21891682	3	2	218	1	0	0	0	0	1	0	0	0	10590	943	33	4	445	4	NPM2	8	21891682	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	37	21891682	124472340	29	17693			1	97		2	2	38	G		8.007628e-05
UNC5D	137970	genome.wustl.edu	37	chr8	35608292	35608292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggattacaacttgagaGtttactgtgtggacaatacc	9	9	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr8:35608292G>T	ENST00000404895.2	+	13	2456	c.2128G>T	c.(2128-2130)Gtt>Ttt	p.V710F	UNC5D_ENST00000287272.2_Missense_Mutation_p.V641F|UNC5D_ENST00000449677.1_Missense_Mutation_p.V286F|UNC5D_ENST00000420357.1_Missense_Mutation_p.V643F|UNC5D_ENST00000416672.1_Missense_Mutation_p.V715F|UNC5D_ENST00000453357.2_Missense_Mutation_p.V705F	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	710	Interaction with DCC. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAACTTGAGAGTTTACTGTGT	0.438																																																	0								ENSG00000156687						204	177	186					8																	35608292		2203	4300	6503	UNC5D	SO:0001583	missense	0			-	HGNC	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2128G>T	8.37:g.35608292G>T	ENSP00000385143:p.Val710Phe	Somatic	0	54	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q8WYP7	Missense_Mutation	SNP							pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V710F	ENST00000404895.2	37	c.2128	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034003	0.93575	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.68624	-0.31;0.1;0.07;-0.3;-0.34;1.54	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.996	D	0.85467	0.1170	10	0.87932	D	0	-20.2235	20.2822	0.98520	0.0:0.0:1.0:0.0	.	286;705;710	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	F	710;643;641;715;705;286	ENSP00000385143:V710F;ENSP00000392739:V643F;ENSP00000287272:V641F;ENSP00000412652:V715F;ENSP00000394303:V705F;ENSP00000397211:V286F	ENSP00000287272:V641F	V	+	1	0	UNC5D	35727834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GTT	-	NULL		0.438	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	protein_coding	OTTHUMT00000347586.2	G		-		35608292	1	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35608292	G	T	35608292	3	4	218	1	0	0	0	0	1	0	0	0	17002	1029	36	3	2178	3	UNC5D	8	35608292	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	13716610	35608292	110755730	30	17694											
LETM2	137994	genome.wustl.edu	37	chr8	38264976	38264976	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacccatcacttcttctgaaGaacctgtaagtatctttaat	5	10	4	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr8:38264976G>A	ENST00000379957.4	+	10	1535	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	LETM2_ENST00000524874.1_Missense_Mutation_p.E422K|LETM2_ENST00000527710.1_Missense_Mutation_p.E256K|RP11-350N15.6_ENST00000606593.1_RNA|LETM2_ENST00000523983.2_Missense_Mutation_p.E423K|LETM2_ENST00000297720.5_Missense_Mutation_p.E375K	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	470						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTCTTCTGAAGAACCTGTAAG	0.378																																																	0								ENSG00000165046						135	127	129					8																	38264976		2203	4300	6503	LETM2	SO:0001583	missense	0			-	HGNC	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1408G>A	8.37:g.38264976G>A	ENSP00000369291:p.Glu470Lys	Somatic	0	64	0		0.509313648659363	10	44.44	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	70	17.65	A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP							pfam_LETM1	p.E470K	ENST00000379957.4	37	c.1408		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.676847|1.676847	0.29783|0.29783	.|.	.|.	ENSG00000165046|ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710|ENST00000527175	.|.	.|.	.|.	5.17|5.17	4.26|4.26	0.50523|0.50523	.|.	0.289624|.	0.29225|.	N|.	0.012765|.	T|T	0.66509|0.66509	0.2796|0.2796	M|M	0.69823|0.69823	2.125|2.125	0.39798|0.39798	D|D	0.972536|0.972536	P;P|.	0.42908|.	0.793;0.793|.	B;B|.	0.38842|.	0.283;0.283|.	T|T	0.67875|0.67875	-0.5557|-0.5557	9|5	0.24483|.	T|.	0.36|.	-3.9772|-3.9772	11.6482|11.6482	0.51273|0.51273	0.0:0.1796:0.8204:0.0|0.0:0.1796:0.8204:0.0	.|.	470;422|.	Q2VYF4;E9PMA4|.	LETM2_HUMAN;.|.	K|K	375;422;470;423;256|64	.|.	ENSP00000297720:E375K|.	E|R	+|+	1|2	0|0	LETM2|LETM2	38384133|38384133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.116000|0.116000	0.19942|0.19942	2.922000|2.922000	0.48860|0.48860	1.233000|1.233000	0.43693|0.43693	0.561000|0.561000	0.74099|0.74099	GAA|AGA	-	NULL		0.378	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	protein_coding	OTTHUMT00000381816.1	G	NM_144652	-		38264976	1	no_errors	ENST00000379957	ensembl	human	known	74_37	missense	SNP	1.000	A	A	38264976	G	A	38264976	3	1	218	1	0	0	0	0	1	0	0	0	8737	943	33	2	1149	2	LETM2	8	38264976	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	2656684	38264976	108099046	31	17695											
NOV	4856	genome.wustl.edu	37	chr8	120431473	120431473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctccaagagctgtggtaTggggttctccacccgggtca	13	11	2	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr8:120431473T>C	ENST00000259526.3	+	4	892	c.665T>C	c.(664-666)aTg>aCg	p.M222T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1543	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AGCTGTGGTATGGGGTTCTCC	0.542																																																	0								ENSG00000136999						127	122	124					8																	120431473		2203	4300	6503	NOV	SO:0001583	missense	0			-	HGNC	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.665T>C	8.37:g.120431473T>C	ENSP00000259526:p.Met222Thr	Somatic	0	56	0		0.509313648659363	106	54.7	128	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58		Missense_Mutation	SNP							pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.M222T	ENST00000259526.3	37	c.665	CCDS6328.1	8	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246482	0.22796	.	.	ENSG00000136999	ENST00000259526	T	0.53423	0.62	5.96	5.96	0.96718	.	0.157826	0.64402	D	0.000002	T	0.36248	0.0960	N	0.22421	0.69	0.51482	D	0.999922	B	0.27823	0.19	B	0.27076	0.076	T	0.13495	-1.0507	10	0.24483	T	0.36	-23.0561	16.4484	0.83959	0.0:0.0:0.0:1.0	.	222	P48745	NOV_HUMAN	T	222	ENSP00000259526:M222T	ENSP00000259526:M222T	M	+	2	0	NOV	120500654	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	6.262000	0.72514	2.285000	0.76669	0.533000	0.62120	ATG	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt		0.542	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOV	protein_coding	OTTHUMT00000381301.1	T	NM_002514	-		120431473	1	no_errors	ENST00000259526	ensembl	human	known	74_37	missense	SNP	1.000	C	C	120431473	T	C	120431473	3	2	218	1	0	0	0	0	1	0	0	0	10555	1464	51	5	679	5	NOV	8	120431473	Missense_Mutation	SNP	T	TCGA-UE-A6QU-01A-12D-A32I-09	82166497	120431473	25932549	32	17696											
GRHPR	9380	genome.wustl.edu	37	chr9	37424844	37424844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctccctttccccgcagctGtgaggtggagcagtgggact	14	13	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr9:37424844G>T	ENST00000318158.6	+	2	171	c.86G>T	c.(85-87)tGt>tTt	p.C29F	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Missense_Mutation_p.C29F	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	29					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CCCCGCAGCTGTGAGGTGGAG	0.687																																																	0								ENSG00000137106						39	37	38					9																	37424844		2203	4300	6503	GRHPR	SO:0001583	missense	0			-	HGNC	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.86G>T	9.37:g.37424844G>T	ENSP00000313432:p.Cys29Phe	Somatic	0	66	0		0.509313648659363	126	50.2	128	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.C29F	ENST00000318158.6	37	c.86	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239798	0.79912	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.83075	-1.68;-1.68	5.74	4.82	0.62117	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.03071	-0.42	0.80722	D	1	B	0.29037	0.231	B	0.37387	0.248	T	0.72899	-0.4152	10	0.54805	T	0.06	.	16.5644	0.84575	0.0:0.13:0.87:0.0	.	29	Q9UBQ7	GRHPR_HUMAN	F	29	ENSP00000367055:C29F;ENSP00000313432:C29F	ENSP00000313432:C29F	C	+	2	0	GRHPR	37414844	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.873000	0.48475	2.745000	0.94114	0.650000	0.86243	TGT	-	pfam_D-isomer_2_OHA_DH_cat_dom		0.687	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	protein_coding	OTTHUMT00000052442.1	G	NM_012203	-		37424844	1	no_errors	ENST00000318158	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37424844	G	T	37424844	3	4	218	1	0	0	0	0	1	0	0	0	6768	1377	48	3	92	3	GRHPR	9	37424844	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09		37424844	103788587	33	17697											
FAM189A2	9413	genome.wustl.edu	37	chr9	72003271	72003271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctcttgtaccatgaccccaGacatccatgaacttgtagaa	6	13	1	4			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr9:72003271G>C	ENST00000257515.8	+	10	1474	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	FAM189A2_ENST00000455972.1_Missense_Mutation_p.D352H|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Missense_Mutation_p.D187H|FAM189A2_ENST00000377216.3_Missense_Mutation_p.D139H	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	352						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CATGACCCCAGACATCCATGA	0.468																																																	0								ENSG00000135063						67	63	64					9																	72003271		2203	4300	6503	FAM189A2	SO:0001583	missense	0			-	HGNC	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1054G>C	9.37:g.72003271G>C	ENSP00000257515:p.Asp352His	Somatic	0	40	0		0.509313648659363	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	14.75	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP							pfam_CD20-like	p.D352H	ENST00000257515.8	37	c.1054	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926923	0.92319	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225;ENST00000377216	T;T;T	0.37752	2.26;2.26;1.18	5.8	5.8	0.92144	.	0.105856	0.64402	D	0.000005	T	0.59770	0.2218	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.59231	-0.7493	10	0.66056	D	0.02	-30.1257	20.063	0.97692	0.0:0.0:1.0:0.0	.	352	Q15884	F1892_HUMAN	H	352;352;187;351;139	ENSP00000395675:D352H;ENSP00000257515:D352H;ENSP00000304435:D187H	ENSP00000257515:D352H	D	+	1	0	FAM189A2	71193091	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.731000	0.98807	2.735000	0.93741	0.655000	0.94253	GAC	-	NULL		0.468	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	protein_coding	OTTHUMT00000052576.2	G	NM_004816	-		72003271	1	no_errors	ENST00000257515	ensembl	human	known	74_37	missense	SNP	1.000	C	C	72003271	G	C	72003271	3	2	218	1	0	0	0	0	1	0	0	0	5518	942	33	4	1088	4	FAM189A2	9	72003271	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	34578427	72003271	69210160	34	17698											
TRPM6	140803	genome.wustl.edu	37	chr9	77343190	77343190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggcagcaggagttacaaTgatgttttgcaatgaagttt	11	6	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr9:77343190T>C	ENST00000360774.1	-	38	6137	c.5900A>G	c.(5899-5901)cAt>cGt	p.H1967R	TRPM6_ENST00000451710.3_Missense_Mutation_p.H1971R|TRPM6_ENST00000361255.3_Missense_Mutation_p.H1962R|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1962R|TRPM6_ENST00000376871.3_Missense_Mutation_p.H804R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H922R	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1967	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGTTACAATGATGTTTTGC	0.398																																																	0								ENSG00000119121						119	105	110					9																	77343190		2203	4300	6503	TRPM6	SO:0001583	missense	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5900A>G	9.37:g.77343190T>C	ENSP00000354006:p.His1967Arg	Somatic	0	90	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	54	28.95	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.H1971R	ENST00000360774.1	37	c.5912	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	t	0.015	-1.568619	0.00895	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870	T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67	5.95	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.522986	0.23782	N	0.044602	T	0.05135	0.0137	N	0.01640	-0.785	0.80722	D	1	B;B;B;B;B;B	0.18013	0.004;0.009;0.025;0.0;0.0;0.0	B;B;B;B;B;B	0.17098	0.001;0.017;0.017;0.001;0.0;0.0	T	0.31081	-0.9956	10	0.11485	T	0.65	.	14.0254	0.64582	0.0:0.852:0.0:0.148	.	514;800;918;1967;1962;1962	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	R	1967;1971;922;804;1962;1962;513	ENSP00000354006:H1967R;ENSP00000407341:H1971R;ENSP00000366068:H922R;ENSP00000366067:H804R;ENSP00000396672:H1962R;ENSP00000354962:H1962R	ENSP00000354006:H1967R	H	-	2	0	TRPM6	76533010	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.156000	0.31712	0.853000	0.35312	-0.976000	0.02587	CAT	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase		0.398	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	T	NM_017662	-		77343190	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	SNP	1.000	C	C	77343190	T	C	77343190	3	2	218	1	0	0	0	0	1	0	0	0	16597	1464	51	5	176	5	TRPM6	9	77343190	Missense_Mutation	SNP	T	TCGA-UE-A6QU-01A-12D-A32I-09	5339919	77343190	63870241	35	17699											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100105638	100105638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaagaagacaaggaagAgggtctagaggagatatact	14	3	1	5	rs146215337		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr9:100105638A>G	ENST00000357054.1	+	33	3775	c.2840A>G	c.(2839-2841)gAg>gGg	p.E947G	CCDC180_ENST00000529487.1_Missense_Mutation_p.E808G|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E805G|CCDC180_ENST00000375202.2_Missense_Mutation_p.E808G|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	947	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GACAAGGAAGAGGGTCTAGAG	0.428																																																	0								ENSG00000197816	A	GLY/GLU	3,4403	2.1+/-5.4	0,3,2200	115	101	106		2423	3.2	0.6	9	dbSNP_134	106	0,8600		0,0,4300	yes	missense	C9orf174	NM_020893.2	98	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	808/1702	100105638	3,13003	2203	4300	6503	CCDC180	SO:0001583	missense	0			-	HGNC	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.2840A>G	9.37:g.100105638A>G	ENSP00000349562:p.Glu947Gly	Somatic	0	58	0		0.509313648659363	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP							NULL	p.E808G	ENST00000357054.1	37	c.2423		9	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280411	0.40294	6.81E-4	0.0	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.10288	3.1;2.89;3.1;2.89	5.5	3.15	0.36227	.	0.468956	0.20993	N	0.081998	T	0.07458	0.0188	L	0.29908	0.895	0.25569	N	0.986914	B;B;B	0.19073	0.033;0.008;0.008	B;B;B	0.22601	0.04;0.015;0.015	T	0.30031	-0.9992	10	0.30078	T	0.28	-14.9534	5.9518	0.19250	0.7823:0.0:0.2177:0.0	.	831;947;947	Q86Y65;B7ZMG3;Q9P1Z9	.;.;CI174_HUMAN	G	947;808;805;831;808	ENSP00000349562:E947G;ENSP00000364348:E808G;ENSP00000414000:E805G;ENSP00000434727:E808G	ENSP00000349562:E947G	E	+	2	0	C9orf174	99145459	0.934000	0.31675	0.644000	0.29465	0.014000	0.08584	1.874000	0.39568	1.016000	0.39470	0.533000	0.62120	GAG	-	NULL		0.428	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	protein_coding		A	NM_020893	rs146215337		100105638	1	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	SNP	0.513	G	G	100105638	A	G	100105638	3	3	218	1	0	0	0	0	1	0	0	0	8242	304	11	5	2926	5	KIAA1529	9	100105638	Missense_Mutation	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09	22762448	100105638	41107793	36	17700											
ASTN2	23245	genome.wustl.edu	37	chr9	119770532	119770532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcactcaccacgaagCtgcttcctatgggtgaacgg	9	14	2	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr9:119770532C>A	ENST00000313400.4	-	7	1530	c.1430G>T	c.(1429-1431)aGc>aTc	p.S477I	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S426I|ASTN2_ENST00000373996.3_Missense_Mutation_p.S477I			O75129	ASTN2_HUMAN	astrotactin 2	477					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACCACGAAGCTGCTTCCTAT	0.498																																																	0								ENSG00000148219						93	78	83					9																	119770532		2203	4300	6503	ASTN2	SO:0001583	missense	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1430G>T	9.37:g.119770532C>A	ENSP00000314038:p.Ser477Ile	Somatic	0	74	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.00	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.S477I	ENST00000313400.4	37	c.1430		9	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449732	0.63290	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13420	2.77;2.76;2.59;2.8	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.19112	0.55	0.51482	D	0.999926	D;P;D	0.59357	0.985;0.92;0.978	P;P;P	0.56216	0.79;0.483;0.794	T	0.02813	-1.1107	9	.	.	.	-22.6992	19.5337	0.95240	0.0:1.0:0.0:0.0	.	426;477;477	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	I	477;477;204;426	ENSP00000314038:S477I;ENSP00000363108:S477I;ENSP00000363098:S204I;ENSP00000354504:S426I	.	S	-	2	0	ASTN2	118810353	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.833000	0.69349	2.602000	0.87976	0.655000	0.94253	AGC	-	NULL		0.498	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		C	NM_014010	-		119770532	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	SNP	1.000	A	A	119770532	C	A	119770532	3	1	218	1	0	0	0	0	1	0	0	0	1065	797	28	3	2889	3	ASTN2	9	119770532	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	19664894	119770532	21442899	37	17701											
SEPHS1	22929	genome.wustl.edu	37	chr10	13365015	13365015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgatgtcagtggcggCgtgggcattgaacgtgtgca	17	9	1	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr10:13365015C>T	ENST00000327347.5	-	8	1159	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	SEPHS1_ENST00000537130.1_Missense_Mutation_p.A195T|SEPHS1_ENST00000545675.1_Missense_Mutation_p.A262T|SEPHS1_ENST00000378614.4_Intron	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	262					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TCAGTGGCGGCGTGGGCATTG	0.547																																																	0								ENSG00000086475						41	39	40					10																	13365015		2203	4300	6503	SEPHS1	SO:0001583	missense	0			-	HGNC	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.784G>A	10.37:g.13365015C>T	ENSP00000367893:p.Ala262Thr	Somatic	0	45	0		0.509313648659363	81	25.23	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP							pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.A262T	ENST00000327347.5	37	c.784	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555408	0.86231	.	.	ENSG00000086475	ENST00000327347;ENST00000545675;ENST00000537130	T;T;T	0.65364	-0.15;-0.15;-0.15	5.09	5.09	0.68999	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	H	0.94808	3.585	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.65773	0.938;0.938;0.938;0.938;0.938	D	0.89217	0.3568	10	0.87932	D	0	-9.5749	18.8485	0.92217	0.0:1.0:0.0:0.0	.	214;262;262;262;195	B4DLS1;P49903;D6PSQ9;D3DRS9;B4DWK0	.;SPS1_HUMAN;.;.;.	T	262;262;195	ENSP00000367893:A262T;ENSP00000441119:A262T;ENSP00000442768:A195T	ENSP00000367893:A262T	A	-	1	0	SEPHS1	13405021	1.000000	0.71417	0.708000	0.30435	0.324000	0.28378	7.731000	0.84895	2.517000	0.84864	0.561000	0.74099	GCC	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD		0.547	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	protein_coding	OTTHUMT00000046856.1	C	NM_012247	-		13365015	-1	no_errors	ENST00000327347	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13365015	C	T	13365015	3	4	218	1	0	0	0	0	1	0	0	0	14062	768	27	1	402	1	SEPHS1	10	13365015	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		13365015	122169732	38	17702											
UNC5B	219699	genome.wustl.edu	37	chr10	73048357	73048357	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacggagtggagcaagtggTcagcctgcagcactgagtgt	17	8	1	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr10:73048357T>A	ENST00000335350.6	+	7	1350	c.934T>A	c.(934-936)Tca>Aca	p.S312T	UNC5B_ENST00000373192.4_Missense_Mutation_p.S312T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	312	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						GAGCAAGTGGTCAGCCTGCAG	0.617																																																	0								ENSG00000107731						109	98	102					10																	73048357		2203	4300	6503	UNC5B	SO:0001583	missense	0			-	HGNC	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.934T>A	10.37:g.73048357T>A	ENSP00000334329:p.Ser312Thr	Somatic	0	22	0		0.509313648659363	13	50	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	3	76.92	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP							pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.S312T	ENST00000335350.6	37	c.934	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	t	31	5.081854	0.94050	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.66638	-0.22;-0.22	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.79645	-0.1717	10	0.52906	T	0.07	-10.6367	14.4772	0.67554	0.0:0.0:0.0:1.0	.	312;312	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	312	ENSP00000334329:S312T;ENSP00000362288:S312T	ENSP00000334329:S312T	S	+	1	0	UNC5B	72718363	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	8.037000	0.88933	1.833000	0.53350	0.524000	0.50904	TCA	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	T	NM_170744	-		73048357	1	no_errors	ENST00000335350	ensembl	human	known	74_37	missense	SNP	1.000	A	A	73048357	T	A	73048357	3	1	218	1	0	0	0	0	1	0	0	0	16999	1667	58	5	960	5	UNC5B	10	73048357	Missense_Mutation	SNP	T	TCGA-UE-A6QU-01A-12D-A32I-09	59683342	73048357	62486390	39	17703											
SLK	9748	genome.wustl.edu	37	chr10	105762686	105762686	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgaagtaggccagaaaTtaattaataagcccatggtg	11	6	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr10:105762686T>G	ENST00000369755.3	+	9	2295	c.1750T>G	c.(1750-1752)Tta>Gta	p.L584V	SLK_ENST00000335753.4_Missense_Mutation_p.L584V	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	584	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGCCAGAAATTAATTAATAA	0.408																																					NSCLC(111;540 1651 1927 4474 17706)												0								ENSG00000065613						44	47	46					10																	105762686		2203	4300	6503	SLK	SO:0001583	missense	0			-	HGNC		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1750T>G	10.37:g.105762686T>G	ENSP00000358770:p.Leu584Val	Somatic	0	35	0		0.509313648659363	48	27.27	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP							pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom	p.L584V	ENST00000369755.3	37	c.1750	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	T	1.807	-0.475570	0.04414	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69561	-0.41;-0.41	5.52	1.91	0.25777	Protein kinase-like domain (1);	0.442134	0.21862	N	0.068018	T	0.47135	0.1429	L	0.32530	0.975	0.09310	N	1	P;P	0.41848	0.763;0.651	B;B	0.36666	0.23;0.115	T	0.29882	-0.9997	10	0.26408	T	0.33	.	6.7331	0.23395	0.0:0.4726:0.0:0.5274	.	584;584	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	V	584	ENSP00000336824:L584V;ENSP00000358770:L584V	ENSP00000336824:L584V	L	+	1	2	SLK	105752676	0.183000	0.23186	0.008000	0.14137	0.160000	0.22226	0.961000	0.29267	0.410000	0.25675	0.454000	0.30748	TTA	-	superfamily_Kinase-like_dom		0.408	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	protein_coding	OTTHUMT00000050188.1	T	NM_014720	-		105762686	1	no_errors	ENST00000369755	ensembl	human	known	74_37	missense	SNP	0.001	G	G	105762686	T	G	105762686	3	3	218	1	0	0	0	0	1	0	0	0	14756	1490	52	5	1784	5	SLK	10	105762686	Missense_Mutation	SNP	T	TCGA-UE-A6QU-01A-12D-A32I-09	32714329	105762686	29772061	40	17704											
TOLLIP	54472	genome.wustl.edu	37	chr11	1311571	1311571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgggcgtctcgtacacCgcgtagcccaggcgcagtcg	15	15	1	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr11:1311571C>T	ENST00000317204.6	-	3	375	c.252G>A	c.(250-252)gcG>gcA	p.A84A	TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000263646.7_Silent_p.A56A|TOLLIP_ENST00000525159.1_Intron|TOLLIP_ENST00000527886.1_Silent_p.A15A|TOLLIP_ENST00000542915.1_Silent_p.A34A|TOLLIP_ENST00000527938.1_Intron	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	84	C2.				autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TCTCGTACACCGCGTAGCCCA	0.587																																																	0								ENSG00000078902						107	92	97					11																	1311571		2198	4298	6496	TOLLIP	SO:0001819	synonymous_variant	0			-	HGNC	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.252G>A	11.37:g.1311571C>T		Somatic	0	68	0		0.509313648659363	53	46.46	46	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	B3KXC6|Q9H9E6|Q9UJ69	Silent	SNP							pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE	p.A84	ENST00000317204.6	37	c.252	CCDS7723.1	11																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom		0.587	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TOLLIP	protein_coding	OTTHUMT00000257162.2	C	NM_019009	-		1311571	-1	no_errors	ENST00000317204	ensembl	human	known	74_37	silent	SNP	0.001	T	T	1311571	C	T	1311571	2	4	218	1	0	0	0	0	0	0	0	1	16357	639	23	1		1	TOLLIP	11	1311571	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		1311571	133694945	41	17705											
OR1S1	219959	genome.wustl.edu	37	chr11	57982428	57982428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatacgtaccttcatacccCcatgtatctcttccttgcca	5	15	2	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr11:57982428C>A	ENST00000309433.6	+	1	212	c.212C>A	c.(211-213)cCc>cAc	p.P71H		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	71						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CTTCATACCCCCATGTATCTC	0.448																																																	0								ENSG00000172774						313	291	298					11																	57982428		2201	4296	6497	OR1S1	SO:0001583	missense	0			-	HGNC	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.212C>A	11.37:g.57982428C>A	ENSP00000311688:p.Pro71His	Somatic	0	85	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	107	13.01	Q6IFG3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P71H	ENST00000309433.6	37	c.212	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578709	0.65878	.	.	ENSG00000172774	ENST00000309433	T	0.02050	4.48	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000168	T	0.23014	0.0556	H	0.98664	4.295	0.46499	D	0.999071	D	0.89917	1.0	D	0.97110	1.0	T	0.50118	-0.8865	10	0.87932	D	0	.	14.1	0.65049	0.0:1.0:0.0:0.0	.	71	Q8NH92	OR1S1_HUMAN	H	71	ENSP00000311688:P71H	ENSP00000311688:P71H	P	+	2	0	OR1S1	57739004	1.000000	0.71417	0.905000	0.35620	0.788000	0.44548	7.141000	0.77330	1.770000	0.52166	0.479000	0.44913	CCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	protein_coding	OTTHUMT00000394705.1	C	NM_001004458	-		57982428	1	no_errors	ENST00000309433	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57982428	C	A	57982428	3	1	218	1	0	0	0	0	1	0	0	0	10974	623	22	3	214	3	OR1S1	11	57982428	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	56670857	57982428	77024088	42	17706											
LAYN	143903	genome.wustl.edu	37	chr11	111425989	111425989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacacaggaagaagatgCcaaaaaaacatttaaagaaa	7	5	0	4			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr11:111425989C>T	ENST00000375615.3	+	6	841	c.656C>T	c.(655-657)gCc>gTc	p.A219V	LAYN_ENST00000533265.1_Missense_Mutation_p.A211V|LAYN_ENST00000436913.2_Missense_Mutation_p.A66V|LAYN_ENST00000525126.1_Missense_Mutation_p.A219V|LAYN_ENST00000375614.2_Missense_Mutation_p.A211V|LAYN_ENST00000528924.1_3'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	219				A -> T (in Ref. 2; BAB70978). {ECO:0000305}.		cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GAAGAAGATGCCAAAAAAACA	0.403																																					Ovarian(17;551 586 12136 22082 22900)												0								ENSG00000204381						75	72	73					11																	111425989		2201	4297	6498	LAYN	SO:0001583	missense	0			-	HGNC		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.656C>T	11.37:g.111425989C>T	ENSP00000364765:p.Ala219Val	Somatic	0	40	0		0.509313648659363	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A219V	ENST00000375615.3	37	c.656	CCDS58178.1	11	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702425	0.48307	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000436913;ENST00000533265;ENST00000541011;ENST00000530962	T;T;T;T	0.05649	3.93;3.51;3.41;4.12	4.99	3.06	0.35304	.	0.804545	0.11795	N	0.528770	T	0.06050	0.0157	L	0.41236	1.265	0.24301	N	0.995121	B;B;B;B;B	0.25351	0.124;0.002;0.002;0.003;0.006	B;B;B;B;B	0.24269	0.052;0.004;0.003;0.001;0.009	T	0.40059	-0.9583	9	.	.	.	-1.5862	7.2974	0.26401	0.1672:0.7457:0.0:0.0871	.	66;211;219;219;211	B4DJU0;E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;.;LAYN_HUMAN;.;.	V	211;219;219;66;211;174;67	ENSP00000364764:A211V;ENSP00000364765:A219V;ENSP00000434328:A219V;ENSP00000434972:A211V	.	A	+	2	0	LAYN	110931199	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.284000	0.33249	0.762000	0.33152	0.655000	0.94253	GCC	-	NULL		0.403	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	protein_coding	OTTHUMT00000391187.1	C	NM_178834	-		111425989	1	no_errors	ENST00000375615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111425989	C	T	111425989	3	4	218	1	0	0	0	0	1	0	0	0	8651	739	26	2	650	2	LAYN	11	111425989	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	53443561	111425989	23580527	43	17707											
ACAD10	80724	genome.wustl.edu	37	chr12	112167713	112167713	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgatcgaatggctgcccctCcatcttccccgtcagcagag	9	16	2	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr12:112167713C>G	ENST00000313698.4	+	10	1502	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L	ACAD10_ENST00000455480.2_Silent_p.L480L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L449L|ACAD10_ENST00000392636.2_Silent_p.L51L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	449						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTGCCCCTCCATCTTCCCC	0.557																																																	0								ENSG00000111271						64	53	57					12																	112167713		2203	4300	6503	ACAD10	SO:0001819	synonymous_variant	0			-	HGNC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1347C>G	12.37:g.112167713C>G		Somatic	0	47	0		0.509313648659363	26	21.21	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP							pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.L480	ENST00000313698.4	37	c.1440	CCDS31903.1	12																																																																																			-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.557	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	protein_coding	OTTHUMT00000368307.1	C	NM_025247	-		112167713	1	no_errors	ENST00000455480	ensembl	human	known	74_37	silent	SNP	0.000	G	G	112167713	C	G	112167713	2	3	218	1	0	0	0	0	0	0	0	1	108	842	30	4		4	ACAD10	12	112167713	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		112167713	21684182	44	17708											
ZNF10	7556	genome.wustl.edu	37	chr12	133733335	133733335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaaagccttcatccggaaGaatgacctcattaagcacca	9	11	2	2	rs207473570		TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr12:133733335G>A	ENST00000248211.6	+	5	1725	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	ZNF10_ENST00000426665.2_Silent_p.K501K|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Silent_p.K367K	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	501					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)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCATCCGGAAGAATGACCTCA	0.418																																																	0								ENSG00000256223						95	88	90					12																	133733335		2203	4300	6503	ZNF10	SO:0001819	synonymous_variant	0			-	HGNC	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1503G>A	12.37:g.133733335G>A		Somatic	0	46	0		0.509313648659363	6	33.33	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	16.67	B2RBS1|Q8TC91	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K501	ENST00000248211.6	37	c.1503	CCDS9283.1	12																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	protein_coding	OTTHUMT00000397182.1	G	NM_015394	-		133733335	1	no_errors	ENST00000248211	ensembl	human	known	74_37	silent	SNP	0.085	A	A	133733335	G	A	133733335	2	1	218	1	0	0	0	0	0	0	0	1	17719	933	33	2		2	ZNF10	12	133733335	Silent	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	21565622	133733335	118560	45	17709											
SLC8A3	6547	genome.wustl.edu	37	chr14	70512750	70512750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaagagccatgttgtggCgagcttgcagccacgggggc	15	11	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr14:70512750C>T	ENST00000381269.2	-	8	3451	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	SLC8A3_ENST00000394330.2_Missense_Mutation_p.A257T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A898T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A894T|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A271T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A897T|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A898T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	900					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATGTTGTGGCGAGCTTGCAG	0.562											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100678						22	24	23					14																	70512750		2203	4299	6502	SLC8A3	SO:0001583	missense	0			-	HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2698G>A	14.37:g.70512750C>T	ENSP00000370669:p.Ala900Thr	Somatic	0	32	0	1122	0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.A900T	ENST00000381269.2	37	c.2698	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528729	0.85706	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.68	5.68	0.88126	Sodium/calcium exchanger membrane region (1);	0.317042	0.33631	N	0.004714	T	0.78509	0.4294	M	0.68593	2.085	0.53005	D	0.999965	D;D;D;D;P	0.89917	0.99;0.996;0.999;1.0;0.806	P;P;D;D;B	0.81914	0.635;0.809;0.993;0.995;0.41	T	0.75731	-0.3215	10	0.38643	T	0.18	.	19.7943	0.96472	0.0:1.0:0.0:0.0	.	894;900;898;897;271	P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;NAC3_HUMAN;.;.;.	T	894;900;898;271;257;897;898	ENSP00000349392:A894T;ENSP00000370669:A900T;ENSP00000350560:A898T;ENSP00000216568:A271T;ENSP00000377863:A257T;ENSP00000436688:A897T;ENSP00000433531:A898T	ENSP00000216568:A271T	A	-	1	0	SLC8A3	69582503	0.935000	0.31712	0.958000	0.39756	0.825000	0.46686	2.005000	0.40864	2.678000	0.91216	0.555000	0.69702	GCC	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.562	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	C		-		70512750	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	missense	SNP	0.994	T	T	70512750	C	T	70512750	3	4	218	1	0	0	0	0	1	0	0	0	14716	768	27	1	89	1	SLC8A3	14	70512750	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		70512750	36836790	46	17710											
RYR3	6263	genome.wustl.edu	37	chr15	34015055	34015055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccattaagatctctgagaaCccagcgctcgacctcccctc	7	17	1	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr15:34015055C>G	ENST00000389232.4	+	44	6829	c.6759C>G	c.(6757-6759)aaC>aaG	p.N2253K	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.N2253K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2253	4 X approximate repeats.				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)		TCTCTGAGAACCCAGCGCTCG	0.557																																																	0								ENSG00000198838						88	92	91					15																	34015055		1952	4123	6075	RYR3	SO:0001583	missense	0			-	HGNC		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.6759C>G	15.37:g.34015055C>G	ENSP00000373884:p.Asn2253Lys	Somatic	0	42	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	O15175|Q15412	Missense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.N2253K	ENST00000389232.4	37	c.6759	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683567	0.29872	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97186	-4.28;-4.28	4.93	2.07	0.26955	.	0.323932	0.32273	N	0.006336	D	0.90652	0.7068	N	0.11427	0.14	0.39545	D	0.968876	B;B	0.14012	0.006;0.009	B;B	0.19946	0.014;0.027	T	0.83223	-0.0067	10	0.41790	T	0.15	.	7.8767	0.29597	0.0:0.5728:0.0:0.4272	.	2253;2253	Q15413-2;Q15413	.;RYR3_HUMAN	K	2253	ENSP00000373884:N2253K;ENSP00000399610:N2253K	ENSP00000354735:N2253K	N	+	3	2	RYR3	31802347	0.999000	0.42202	0.959000	0.39883	0.734000	0.41952	0.611000	0.24268	0.290000	0.22444	0.555000	0.69702	AAC	-	NULL		0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		34015055	1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	0.994	G	G	34015055	C	G	34015055	3	3	218	1	0	0	0	0	1	0	0	0	13778	506	18	4	6933	4	RYR3	15	34015055	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		34015055	68516337	47	17711											
FBXL22	283807	genome.wustl.edu	37	chr15	63893606	63893606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacctgaccactcggaGttcgccgacttgcgctcggg	15	13	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr15:63893606G>A	ENST00000360587.2	+	2	505	c.465G>A	c.(463-465)gaG>gaA	p.E155E	USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000561256.1_RNA|FBXL22_ENST00000539570.3_Silent_p.E149E|USP3-AS1_ENST00000559737.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	155					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						ACCACTCGGAGTTCGCCGACT	0.746																																																	0								ENSG00000197361						15	17	16					15																	63893606		2187	4270	6457	FBXL22	SO:0001819	synonymous_variant	0			-	HGNC	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"F-boxes / Leucine-rich repeats"	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.465G>A	15.37:g.63893606G>A		Somatic	0	40	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78		Silent	SNP							superfamily_F-box_dom	p.E155	ENST00000360587.2	37	c.465	CCDS10187.2	15																																																																																			-	NULL		0.746	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	FBXL22	protein_coding	OTTHUMT00000256412.4	G	NM_203373	-		63893606	1	no_errors	ENST00000360587	ensembl	human	known	74_37	silent	SNP	0.000	A	A	63893606	G	A	63893606	2	1	218	1	0	0	0	0	0	0	0	1	5721	1020	36	2		2	FBXL22	15	63893606	Silent	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	29878551	63893606	38637786	48	17712											
WDR24	84219	genome.wustl.edu	37	chr16	737641	737641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcaccggtcgggacgccGgatgtcccagagctgcacat	13	15	0	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr16:737641G>A	ENST00000248142.6	-	6	969	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Missense_Mutation_p.R194W			Q96S15	WDR24_HUMAN	WD repeat domain 24	324										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCGGGACGCCGGATGTCCCAG	0.637																																																	0								ENSG00000127580						104	87	93					16																	737641		2199	4300	6499	WDR24	SO:0001583	missense	0			-	HGNC	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.970C>T	16.37:g.737641G>A	ENSP00000248142:p.Arg324Trp	Somatic	0	40	0		0.509313648659363	29	29.27	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R324W	ENST00000248142.6	37	c.970		16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199142	0.79015	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.36520	1.25;1.25	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68674	-0.5346	10	0.87932	D	0	-20.3797	17.532	0.87817	0.0:0.0:1.0:0.0	.	194	Q96S15-2	.	W	324;194	ENSP00000248142:R324W;ENSP00000293883:R194W	ENSP00000248142:R324W	R	-	1	2	WDR24	677642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.786000	0.75094	2.609000	0.88269	0.637000	0.83480	CGG	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.637	WDR24-201	KNOWN	basic	protein_coding	WDR24	protein_coding		G	NM_032259	-		737641	-1	no_errors	ENST00000248142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	737641	G	A	737641	3	1	218	1	0	0	0	0	1	0	0	0	17288	1115	39	1	1824	1	WDR24	16	737641	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09		737641	89617112	49	17713											
CAMKK1	84254	genome.wustl.edu	37	chr17	3769248	3769248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatcgctcttccctccgtgCttggggctcaaacgggttcc	12	14	2	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr17:3769248C>A	ENST00000348335.2	-	15	1547	c.1399G>T	c.(1399-1401)Gca>Tca	p.A467S	CAMKK1_ENST00000381769.2_Missense_Mutation_p.A494S|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A505S|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A505S	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	467					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)		TCCCTCCGTGCTTGGGGCTCA	0.607																																																	0								ENSG00000004660						125	99	108					17																	3769248		2203	4300	6503	CAMKK1	SO:0001583	missense	0			-	HGNC	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.1399G>T	17.37:g.3769248C>A	ENSP00000323118:p.Ala467Ser	Somatic	0	39	0		0.509313648659363	10	28.57	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	43	28.33	Q9BQH3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A505S	ENST00000348335.2	37	c.1513	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	C	5.675	0.309055	0.10733	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.87	1.67	0.24075	Protein kinase-like domain (1);	0.310318	0.33057	N	0.005334	T	0.12390	0.0301	N	0.02315	-0.6	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.16722	0.016;0.002	T	0.35351	-0.9792	10	0.02654	T	1	-6.7134	4.8309	0.13439	0.1663:0.6006:0.0:0.2332	.	505;467	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	S	494;467;505;505	ENSP00000371188:A494S;ENSP00000323118:A467S;ENSP00000371190:A505S;ENSP00000158166:A505S	ENSP00000158166:A505S	A	-	1	0	CAMKK1	3715997	0.002000	0.14202	0.953000	0.39169	0.921000	0.55340	0.829000	0.27449	1.255000	0.44051	0.462000	0.41574	GCA	-	superfamily_Kinase-like_dom		0.607	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	protein_coding	OTTHUMT00000207456.1	C	NM_032294, NM_172206, NM_172207	-		3769248	-1	no_errors	ENST00000381771	ensembl	human	known	74_37	missense	SNP	0.014	A	A	3769248	C	A	3769248	3	1	218	1	0	0	0	0	1	0	0	0	2608	797	28	3	130	3	CAMKK1	17	3769248	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		3769248	77425962	50	17714											
YBX2	51087	genome.wustl.edu	37	chr17	7193637	7193637	+	Frame_Shift_Del	DEL	G	G	-													gccgtcggtagaagaagggtGgggggcaccatcgtcggggc							TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr17:7193637delG	ENST00000007699.5	-	5	740	c.677delC	c.(676-678)ccafs	p.P227fs	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	227	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GAAGAAGGGTGGGGGGCACCA	0.657																																																	0								ENSG00000006047						78	94	89					17																	7193637		2200	4286	6486	YBX2	SO:0001589	frameshift_variant	0				HGNC	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.677delC	17.37:g.7193637delG	ENSP00000007699:p.Pro227fs	Somatic	0	148	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	144	12.73	D3DTP1|Q8N4P0	Frame_Shift_Del	DEL							pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.P226fs	ENST00000007699.5	37	c.677	CCDS11098.1	17																																																																																			-	NULL		0.657	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX2	protein_coding	OTTHUMT00000440172.2	G	NM_015982			7193637	-1	no_errors	ENST00000007699	ensembl	human	known	74_37	frame_shift_del	DEL	0.892	-	-	7193637	G	-	7193637	7	5	218	1	0	1	0	1	0	0	0	0	17477	1348	47	0	433	0	YBX2	17	7193637	Frame_Shift_Del	DEL	G	TCGA-UE-A6QU-01A-12D-A32I-09	3424389	7193637	74001573	51	17715											
DNAH9	1770	genome.wustl.edu	37	chr17	11603120	11603120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctagatgccagtggggaaCcaaccaagacaagcctcggc	12	12	0	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr17:11603120C>A	ENST00000262442.4	+	23	5013	c.4945C>A	c.(4945-4947)Cca>Aca	p.P1649T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P1649T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1649	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)			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)		CAGTGGGGAACCAACCAAGAC	0.517																																																	0								ENSG00000007174						140	109	120					17																	11603120		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	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.4945C>A	17.37:g.11603120C>A	ENSP00000262442:p.Pro1649Thr	Somatic	0	58	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	63	43.75	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P1649T	ENST00000262442.4	37	c.4945	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558840	0.27827	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.26660	1.76;1.72	5.45	4.48	0.54585	Dynein heavy chain, domain-2 (1);	0.142018	0.47852	D	0.000207	T	0.23806	0.0576	L	0.52206	1.635	0.80722	D	1	B	0.12013	0.005	B	0.22152	0.038	T	0.04400	-1.0954	10	0.16420	T	0.52	.	12.5862	0.56419	0.1315:0.742:0.1265:0.0	.	1649	Q9NYC9	DYH9_HUMAN	T	1649;1649;231	ENSP00000262442:P1649T;ENSP00000414874:P1649T	ENSP00000262442:P1649T	P	+	1	0	DNAH9	11543845	0.958000	0.32768	0.746000	0.31095	0.235000	0.25334	1.464000	0.35288	1.303000	0.44873	0.655000	0.94253	CCA	-	pfam_Dynein_heavy_dom-2		0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	-		11603120	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	0.975	A	A	11603120	C	A	11603120	3	1	218	1	0	0	0	0	1	0	0	0	4610	507	18	3	5035	3	DNAH9	17	11603120	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	4409483	11603120	69592090	52	17716											
THRA	7067	genome.wustl.edu	37	chr17	38240109	38240109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttcgccgcacaatcCagaagaacctccatcccacc	5	18	1	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr17:38240109C>T	ENST00000264637.4	+	5	824	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	THRA_ENST00000394121.4_Nonsense_Mutation_p.Q82*|THRA_ENST00000584985.1_Nonsense_Mutation_p.Q82*|THRA_ENST00000546243.1_Nonsense_Mutation_p.Q82*|THRA_ENST00000450525.2_Nonsense_Mutation_p.Q82*	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	82					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCGCACAATCCAGAAGAACCT	0.537																																																	0								ENSG00000126351						150	132	138					17																	38240109		2203	4300	6503	THRA	SO:0001587	stop_gained	0			-	HGNC	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.244C>T	17.37:g.38240109C>T	ENSP00000264637:p.Gln82*	Somatic	0	40	0		0.509313648659363	33	46.77	29	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	A8K3B5|P21205|Q8N6A1|Q96H73	Nonsense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Q82*	ENST00000264637.4	37	c.244	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.514649	0.98843	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5805	0.91168	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000264637:Q82X	Q	+	1	0	THRA	35493635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.754000	0.85163	2.477000	0.83638	0.430000	0.28490	CAG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Znf_hrmn_rcpt		0.537	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	protein_coding	OTTHUMT00000257160.2	C		-		38240109	1	no_errors	ENST00000264637	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	38240109	C	T	38240109	4	4	218	1	0	0	0	0	0	1	0	0	15880	595	21	2	258	2	THRA	17	38240109	Nonsense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	26636989	38240109	42955101	53	17717											
OTOP3	347741	genome.wustl.edu	37	chr17	72937678	72937678	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcccagaaggctggacaActcttctcggggctcctggc	13	14	2	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr17:72937678A>G	ENST00000328801.4	+	2	264	c.264A>G	c.(262-264)caA>caG	p.Q88Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	88						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGCTGGACAACTCTTCTCGG	0.642																																																	0								ENSG00000182938						34	37	36					17																	72937678		2203	4295	6498	OTOP3	SO:0001819	synonymous_variant	0			-	HGNC	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.264A>G	17.37:g.72937678A>G		Somatic	0	33	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51		Silent	SNP							pfam_Otopetrin	p.Q88	ENST00000328801.4	37	c.264	CCDS11709.1	17																																																																																			-	NULL		0.642	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	protein_coding	OTTHUMT00000445308.1	A	NM_178233	-		72937678	1	no_errors	ENST00000328801	ensembl	human	known	74_37	silent	SNP	1.000	G	G	72937678	A	G	72937678	2	3	218	1	0	0	0	0	0	0	0	1	11309	40	2	5		5	OTOP3	17	72937678	Silent	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09	34697569	72937678	8257532	54	17718											
PHLPP1	23239	genome.wustl.edu	37	chr18	60630681	60630681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtatggagtcatggttacaCtgaagcttcgggggtaaaaa	13	5	1	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr18:60630681C>G	ENST00000262719.5	+	14	3770	c.3536C>G	c.(3535-3537)aCt>aGt	p.T1179S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.T667S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1179	PP2C-like.				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						CATGGTTACACTGAAGCTTCG	0.458																																																	0								ENSG00000081913						55	49	51					18																	60630681		1892	4109	6001	PHLPP1	SO:0001583	missense	0			-	HGNC	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.3536C>G	18.37:g.60630681C>G	ENSP00000262719:p.Thr1179Ser	Somatic	0	93	0		0.509313648659363	36	28	14	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	81	14.74	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP							pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.T1179S	ENST00000262719.5	37	c.3536	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673331	0.67928	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.08634	3.07;3.07	5.65	5.65	0.86999	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.12987	0.0315	N	0.13235	0.315	0.80722	D	1	D	0.58970	0.984	P	0.56612	0.802	T	0.22277	-1.0221	9	0.33141	T	0.24	-17.1262	19.7432	0.96238	0.0:1.0:0.0:0.0	.	1179	O60346	PHLP1_HUMAN	S	667;1179	ENSP00000383170:T667S;ENSP00000262719:T1179S	ENSP00000262719:T1179S	T	+	2	0	PHLPP1	58781661	1.000000	0.71417	0.976000	0.42696	0.883000	0.51084	7.277000	0.78572	2.663000	0.90544	0.563000	0.77884	ACT	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.458	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	protein_coding	OTTHUMT00000319249.2	C	NM_194449	-		60630681	1	no_errors	ENST00000262719	ensembl	human	known	74_37	missense	SNP	1.000	G	G	60630681	C	G	60630681	3	3	218	1	0	0	0	0	1	0	0	0	11856	565	20	4	3590	4	PHLPP1	18	60630681	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		60630681	17446567	55	17719											
FBN3	84467	genome.wustl.edu	37	chr19	8146270	8146270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgccatcctcctccagCaggtagcctcggggacagct	11	16	0	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr19:8146270C>T	ENST00000600128.1	-	58	7722	c.7308G>A	c.(7306-7308)ctG>ctA	p.L2436L	FBN3_ENST00000601739.1_Silent_p.L2436L|FBN3_ENST00000270509.2_Silent_p.L2436L			Q75N90	FBN3_HUMAN	fibrillin 3	2436	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTCCTCCAGCAGGTAGCCTC	0.582																																																	0								ENSG00000142449						84	76	78					19																	8146270		2203	4300	6503	FBN3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7308G>A	19.37:g.8146270C>T		Somatic	0	58	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.L2436	ENST00000600128.1	37	c.7308	CCDS12196.1	19																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN		0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	C	NM_032447	-		8146270	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	SNP	0.997	T	T	8146270	C	T	8146270	2	4	218	1	0	0	0	0	0	0	0	1	5706	697	25	2		2	FBN3	19	8146270	Silent	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		8146270	50982713	56	17720											
MRPL4	51073	genome.wustl.edu	37	chr19	10370387	10370387	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctctggcaggactcAcgttacagacccctctaccc	8	16	3	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr19:10370387A>T	ENST00000253099.6	+	9	1121	c.834A>T	c.(832-834)tcA>tcT	p.S278S	MRPL4_ENST00000307422.5_Silent_p.S278S|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_3'UTR	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	278					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGCAGGACTCACGTTACAGAC	0.647																																																	0								ENSG00000105364						79	61	68					19																	10370387		2203	4300	6503	MRPL4	SO:0001819	synonymous_variant	0			-	HGNC	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.834A>T	19.37:g.10370387A>T		Somatic	0	93	0		0.509313648659363	263	25.92	92	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	90	9.00	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP							pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.S278	ENST00000253099.6	37	c.834	CCDS12230.1	19																																																																																			-	NULL		0.647	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	protein_coding	OTTHUMT00000451197.1	A		-		10370387	1	no_errors	ENST00000253099	ensembl	human	known	74_37	silent	SNP	0.000	T	T	10370387	A	T	10370387	2	4	218	1	0	0	0	0	0	0	0	1	9805	146	6	5		5	MRPL4	19	10370387	Silent	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09	2224117	10370387	48758596	57	17721											
SLC5A5	6528	genome.wustl.edu	37	chr19	17988575	17988575	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctatacattctggacttttGtggtgggtggcacgttggtg	15	6	1	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr19:17988575G>C	ENST00000222248.3	+	6	1089	c.742G>C	c.(742-744)Gtg>Ctg	p.V248L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	248					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGACTTTTGTGGTGGGTGG	0.597																																					Melanoma(65;1008 1708 7910 46650)												0								ENSG00000105641						171	137	149					19																	17988575		2203	4300	6503	SLC5A5	SO:0001583	missense	0			-	HGNC		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.742G>C	19.37:g.17988575G>C	ENSP00000222248:p.Val248Leu	Somatic	0	59	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V248L	ENST00000222248.3	37	c.742	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	4.523	0.097121	0.08681	.	.	ENSG00000105641	ENST00000222248	D	0.87650	-2.28	5.3	-2.61	0.06171	.	1.424930	0.04308	N	0.348503	T	0.74891	0.3776	N	0.17764	0.52	0.09310	N	0.999999	B	0.11235	0.004	B	0.17979	0.02	T	0.59059	-0.7525	10	0.15066	T	0.55	.	5.735	0.18061	0.2962:0.2387:0.4651:0.0	.	248	Q92911	SC5A5_HUMAN	L	248	ENSP00000222248:V248L	ENSP00000222248:V248L	V	+	1	0	SLC5A5	17849575	0.000000	0.05858	0.018000	0.16275	0.134000	0.20937	-0.874000	0.04210	-0.229000	0.09854	-0.355000	0.07637	GTG	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.597	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	protein_coding	OTTHUMT00000466690.1	G		-		17988575	1	no_errors	ENST00000222248	ensembl	human	known	74_37	missense	SNP	0.001	C	C	17988575	G	C	17988575	3	2	218	1	0	0	0	0	1	0	0	0	14676	1377	48	4	764	4	SLC5A5	19	17988575	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	7618188	17988575	41140408	58	17722											
FUT2	2524	genome.wustl.edu	37	chr19	49207147	49207147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggccaattacaccctcCccgactcccctttcctcaaa	3	20	1	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr19:49207147C>T	ENST00000425340.2	+	2	1051	c.934C>T	c.(934-936)Ccc>Tcc	p.P312S	FUT2_ENST00000391876.4_Missense_Mutation_p.P312S	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	312					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TTACACCCTCCCCGACTCCCC	0.567																																																	0								ENSG00000176920						130	114	119					19																	49207147		2203	4300	6503	FUT2	SO:0001583	missense	0			-	HGNC		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.934C>T	19.37:g.49207147C>T	ENSP00000387498:p.Pro312Ser	Somatic	0	57	0		0.509313648659363	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP							pfam_Glyco_trans_11	p.P312S	ENST00000425340.2	37	c.934	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484432	0.63962	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.96334	-3.98;-3.98	4.99	4.99	0.66335	.	.	.	.	.	D	0.98365	0.9457	M	0.90650	3.135	0.50039	D	0.999846	D	0.89917	1.0	D	0.97110	1.0	D	0.99229	1.0881	8	.	.	.	.	16.1416	0.81528	0.0:1.0:0.0:0.0	.	312	Q10981	FUT2_HUMAN	S	312	ENSP00000387498:P312S;ENSP00000375748:P312S	.	P	+	1	0	FUT2	53898959	0.996000	0.38824	0.961000	0.40146	0.495000	0.33615	4.736000	0.62059	2.465000	0.83290	0.549000	0.68633	CCC	-	pfam_Glyco_trans_11		0.567	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	protein_coding	OTTHUMT00000378731.2	C	NM_000511	-		49207147	1	no_errors	ENST00000391876	ensembl	human	known	74_37	missense	SNP	0.993	T	T	49207147	C	T	49207147	3	4	218	1	0	0	0	0	1	0	0	0	6106	623	22	2	936	2	FUT2	19	49207147	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09	31218572	49207147	9921836	59	17723											
ZNF418	147686	genome.wustl.edu	37	chr19	58438975	58438975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaaagggagactcacActcaggtttgctgtttgact	10	10	2	3			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr19:58438975A>G	ENST00000396147.1	-	4	865	c.574T>C	c.(574-576)Tgt>Cgt	p.C192R	ZNF418_ENST00000595830.1_Missense_Mutation_p.C192R|ZNF418_ENST00000425570.3_Missense_Mutation_p.C213R|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.C107R	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	192					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(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GGAGACTCACACTCAGGTTTG	0.468																																																	0								ENSG00000196724						70	68	69					19																	58438975		2186	4292	6478	ZNF418	SO:0001583	missense	0			-	HGNC	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.574T>C	19.37:g.58438975A>G	ENSP00000379451:p.Cys192Arg	Somatic	0	63	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C192R	ENST00000396147.1	37	c.574	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	3.452	-0.111740	0.06881	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.08193	3.12;3.14	2.01	0.881	0.19166	.	.	.	.	.	T	0.24122	0.0584	M	0.87827	2.91	0.33742	D	0.619561	D	0.57571	0.98	D	0.69142	0.962	T	0.30001	-0.9993	9	0.87932	D	0	.	1.7268	0.02923	0.5367:0.0:0.1766:0.2867	.	192	Q8TF45	ZN418_HUMAN	R	192;213;158	ENSP00000379451:C192R;ENSP00000407039:C213R	ENSP00000379451:C192R	C	-	1	0	ZNF418	63130787	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.166000	0.16583	0.173000	0.19788	0.254000	0.18369	TGT	-	NULL		0.468	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	protein_coding	OTTHUMT00000466693.1	A	NM_133460	-		58438975	-1	no_errors	ENST00000396147	ensembl	human	known	74_37	missense	SNP	0.582	G	G	58438975	A	G	58438975	3	3	218	1	0	0	0	0	1	0	0	0	17902	159	6	5	1460	5	ZNF418	19	58438975	Missense_Mutation	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09	9231828	58438975	690008	60	17724											
RIN2	54453	genome.wustl.edu	37	chr20	19915798	19915798	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaggagatggtgcggaCagatgtcaacctggaaaatg	14	6	1	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr20:19915798C>G	ENST00000255006.6	+	3	409	c.260C>G	c.(259-261)aCa>aGa	p.T87R	RIN2_ENST00000440354.2_Missense_Mutation_p.T38R|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	38					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						ATGGTGCGGACAGATGTCAAC	0.512																																																	0								ENSG00000132669						74	74	74					20																	19915798		2013	4171	6184	RIN2	SO:0001583	missense	0			-	HGNC	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.260C>G	20.37:g.19915798C>G	ENSP00000255006:p.Thr87Arg	Somatic	0	82	0		0.509313648659363	14	30	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP							pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.T87R	ENST00000255006.6	37	c.260	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454044	0.84209	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06933	3.24;3.24	5.71	5.71	0.89125	.	0.187274	0.42053	D	0.000774	T	0.20333	0.0489	L	0.40543	1.245	0.40079	D	0.976113	D;P	0.69078	0.997;0.856	D;P	0.64144	0.922;0.483	T	0.00444	-1.1735	9	.	.	.	-6.7861	18.6285	0.91350	0.0:1.0:0.0:0.0	.	38;38	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	R	87;38	ENSP00000255006:T87R;ENSP00000391239:T38R	.	T	+	2	0	RIN2	19863798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.842000	0.48230	2.703000	0.92315	0.655000	0.94253	ACA	-	NULL		0.512	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	C		-		19915798	1	no_errors	ENST00000255006	ensembl	human	known	74_37	missense	SNP	1.000	G	G	19915798	C	G	19915798	3	3	218	1	0	0	0	0	1	0	0	0	13380	478	17	4	119	4	RIN2	20	19915798	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		19915798	43109722	61	17725											
PTPRT	11122	genome.wustl.edu	37	chr20	41306780	41306780	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagccagcagctctgggggAgcaatgggcgtgggaggctc	18	10	1	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr20:41306780A>T	ENST00000373187.1	-	7	878	c.879T>A	c.(877-879)gcT>gcA	p.A293A	PTPRT_ENST00000373193.3_Silent_p.A293A|PTPRT_ENST00000373198.4_Silent_p.A293A|PTPRT_ENST00000356100.2_Silent_p.A293A|PTPRT_ENST00000373190.1_Silent_p.A293A|PTPRT_ENST00000373201.1_Silent_p.A293A|PTPRT_ENST00000373184.1_Silent_p.A293A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	293	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GCTCTGGGGGAGCAATGGGCG	0.517																																																	0								ENSG00000196090						46	47	47					20																	41306780		1909	4125	6034	PTPRT	SO:0001819	synonymous_variant	0			-	HGNC	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.879T>A	20.37:g.41306780A>T		Somatic	0	56	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	85	10.53	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A293	ENST00000373187.1	37	c.879	CCDS42874.1	20																																																																																			-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	A		-		41306780	-1	no_errors	ENST00000373198	ensembl	human	known	74_37	silent	SNP	0.881	T	T	41306780	A	T	41306780	2	4	218	1	0	0	0	0	0	0	0	1	12820	291	11	5		5	PTPRT	20	41306780	Silent	SNP	A	TCGA-UE-A6QU-01A-12D-A32I-09	21390982	41306780	21718740	62	17726											
NTSR1	4923	genome.wustl.edu	37	chr20	61340977	61340977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggccttcggcgacgccGgctgccgcggctactacttc	13	17	0	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr20:61340977G>T	ENST00000370501.3	+	1	789	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	140					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.G140S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCGACGCCGGCTGCCGCGG	0.687																																					GBM(37;400 780 6403 19663 35669)												1	Substitution - Missense(1)	prostate(1)						ENSG00000101188						39	45	43					20																	61340977		2201	4292	6493	NTSR1	SO:0001583	missense	0			-	HGNC		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.418G>T	20.37:g.61340977G>T	ENSP00000359532:p.Gly140Cys	Somatic	0	29	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	Q9H4H1|Q9H4T5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt	p.G140C	ENST00000370501.3	37	c.418	CCDS13502.1	20	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586717	0.66105	.	.	ENSG00000101188	ENST00000370501	T	0.41065	1.01	5.15	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.819987	0.11088	N	0.601122	T	0.56171	0.1967	M	0.83603	2.65	0.31071	N	0.713045	P	0.48230	0.907	P	0.52343	0.696	T	0.56733	-0.7930	10	0.45353	T	0.12	-14.5784	7.7106	0.28675	0.1525:0.1363:0.7112:0.0	.	140	P30989	NTR1_HUMAN	C	140	ENSP00000359532:G140C	ENSP00000359532:G140C	G	+	1	0	NTSR1	60811422	0.859000	0.29813	0.247000	0.24249	0.802000	0.45316	4.009000	0.57110	0.554000	0.29061	0.561000	0.74099	GGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt		0.687	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	protein_coding	OTTHUMT00000080061.1	G		-		61340977	1	no_errors	ENST00000370501	ensembl	human	known	74_37	missense	SNP	0.820	T	T	61340977	G	T	61340977	3	4	218	1	0	0	0	0	1	0	0	0	10712	1116	39	3	420	3	NTSR1	20	61340977	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	20034197	61340977	1684543	63	17727											
CELSR1	9620	genome.wustl.edu	37	chr22	46760514	46760514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctcctcgcggtgcaGctccacgctgaccttggtct	11	17	1	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chr22:46760514G>T	ENST00000262738.3	-	33	8673	c.8674C>A	c.(8674-8676)Ctg>Atg	p.L2892M		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2892					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)			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)		TCGCGGTGCAGCTCCACGCTG	0.701																																																	0								ENSG00000075275						34	37	36					22																	46760514		2199	4297	6496	CELSR1	SO:0001583	missense	0			-	HGNC	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.8674C>A	22.37:g.46760514G>T	ENSP00000262738:p.Leu2892Met	Somatic	0	53	0		0.509313648659363	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP							pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2892M	ENST00000262738.3	37	c.8674	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804694	0.70682	.	.	ENSG00000075275	ENST00000262738	T	0.70986	-0.53	4.62	2.43	0.29744	.	0.000000	0.44688	U	0.000432	T	0.76814	0.4040	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.71925	-0.4445	10	0.37606	T	0.19	.	7.8335	0.29358	0.0884:0.0:0.7501:0.1615	.	2892	Q9NYQ6	CELR1_HUMAN	M	2892	ENSP00000262738:L2892M	ENSP00000262738:L2892M	L	-	1	2	CELSR1	45139178	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	5.932000	0.70121	0.320000	0.23234	0.563000	0.77884	CTG	-	NULL		0.701	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246	-		46760514	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46760514	G	T	46760514	3	4	218	1	0	0	0	0	1	0	0	0	3223	962	34	3	382	3	CELSR1	22	46760514	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09		46760514	4544052	64	17728											
FAM47A	158724	genome.wustl.edu	37	chrX	34148570	34148570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccacttgaagaattcaCggagtttttccgatgtgtat	9	9	1	2			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chrX:34148570C>T	ENST00000346193.3	-	1	1877	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	609										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						GAAGAATTCACGGAGTTTTTC	0.448																																																	0								ENSG00000185448						80	74	76					X																	34148570		2123	4251	6374	FAM47A	SO:0001583	missense	0			-	HGNC	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.1826G>A	X.37:g.34148570C>T	ENSP00000345029:p.Arg609His	Somatic	0	59	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	63	10.00	A8K8I9|Q8TAA0	Missense_Mutation	SNP							NULL	p.R609H	ENST00000346193.3	37	c.1826	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	4.779	0.144838	0.09134	.	.	ENSG00000185448	ENST00000346193	T	0.42900	0.96	1.8	-3.61	0.04556	.	.	.	.	.	T	0.38295	0.1035	L	0.45137	1.4	0.09310	N	1	D	0.69078	0.997	P	0.57283	0.817	T	0.17319	-1.0373	9	0.34782	T	0.22	.	0.214	0.00159	0.207:0.2581:0.2045:0.3304	.	609	Q5JRC9	FA47A_HUMAN	H	609	ENSP00000345029:R609H	ENSP00000345029:R609H	R	-	2	0	FAM47A	34058491	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.460000	0.06720	-1.312000	0.02306	-1.168000	0.01747	CGT	-	NULL		0.448	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	C	NM_203408	-		34148570	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	SNP	0.000	T	T	34148570	C	T	34148570	3	4	218	1	0	0	0	0	1	0	0	0	5571	536	19	1	553	1	FAM47A	23	34148570	Missense_Mutation	SNP	C	TCGA-UE-A6QU-01A-12D-A32I-09		34148570	121121990	65	17729											
MAGEE2	139599	genome.wustl.edu	37	chrX	75003967	75003967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcattcatagtgtcctccGaccagaactctaagccagca	6	13	3	1			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chrX:75003967G>A	ENST00000373359.2	-	1	1112	c.920C>T	c.(919-921)tCg>tTg	p.S307L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	307										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTGTCCTCCGACCAGAACTC	0.463																																																	0								ENSG00000186675						82	72	75					X																	75003967		2203	4300	6503	MAGEE2	SO:0001583	missense	0			-	HGNC	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.920C>T	X.37:g.75003967G>A	ENSP00000362457:p.Ser307Leu	Somatic	0	56	0		0.509313648659363	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	Q5JSI5	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.S307L	ENST00000373359.2	37	c.920	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543477	0.45280	.	.	ENSG00000186675	ENST00000373359	T	0.03982	3.74	2.76	2.76	0.32466	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.33365	D	0.572874	D	0.69078	0.997	D	0.67725	0.953	T	0.43893	-0.9363	9	0.20046	T	0.44	.	8.1526	0.31150	0.0:0.0:1.0:0.0	.	307	Q8TD90	MAGE2_HUMAN	L	307	ENSP00000362457:S307L	ENSP00000362457:S307L	S	-	2	0	MAGEE2	74920692	1.000000	0.71417	0.999000	0.59377	0.661000	0.39034	1.318000	0.33643	1.638000	0.50547	0.422000	0.28245	TCG	-	NULL		0.463	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	protein_coding	OTTHUMT00000057288.1	G	NM_138703	-		75003967	-1	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	SNP	0.999	A	A	75003967	G	A	75003967	3	1	218	1	0	0	0	0	1	0	0	0	9188	1059	37	1	655	1	MAGEE2	23	75003967	Missense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	40855397	75003967	80266593	66	17730											
LRCH2	57631	genome.wustl.edu	37	chrX	114357669	114357669	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgtcgtatttgctctcGctcttcccgtaaatgttcca	7	11	2	0			TCGA-UE-A6QU-01A-12D-A32I-09	TCGA-UE-A6QU-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8955375b-e2e4-42f6-a96f-0e14ffb8fd4b	a37b1846-7265-4f3a-bc22-c1dd8350e95a	g.chrX:114357669G>A	ENST00000317135.8	-	18	1966	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*	LRCH2_ENST00000538422.1_Nonsense_Mutation_p.R629*	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	646	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ATTTGCTCTCGCTCTTCCCGT	0.408																																																	0								ENSG00000130224						162	136	144					X																	114357669		1906	4113	6019	LRCH2	SO:0001587	stop_gained	0			-	HGNC	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1936C>T	X.37:g.114357669G>A	ENSP00000325091:p.Arg646*	Somatic	0	57	0		0.509313648659363	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	F5H2T1|Q08AD5|Q9HA88|Q9P233	Nonsense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R646*	ENST00000317135.8	37	c.1936	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.032886	0.97221	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	.	.	.	5.31	3.38	0.38709	.	0.186759	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-9.0887	10.3811	0.44113	0.0:0.0:0.449:0.551	.	.	.	.	X	646;125;629	.	ENSP00000325091:R646X	R	-	1	2	LRCH2	114263925	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.384000	0.52478	1.195000	0.43115	0.544000	0.68410	CGA	-	superfamily_CH-domain,pfscan_CH-domain		0.408	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	protein_coding	OTTHUMT00000057971.2	G	NM_020871	-		114357669	-1	no_errors	ENST00000317135	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	114357669	G	A	114357669	4	1	218	1	0	0	0	0	0	1	0	0	8935	1095	38	1	377	1	LRCH2	23	114357669	Nonsense_Mutation	SNP	G	TCGA-UE-A6QU-01A-12D-A32I-09	39353702	114357669	40912891	67	17731											
AGRN	375790	genome.wustl.edu	37	chr1	982235	982235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcagcagcgtggccaccCctgggccacctgtcgagagg	16	14	0	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:982235C>A	ENST00000379370.2	+	19	3336	c.3286C>A	c.(3286-3288)Cct>Act	p.P1096T		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1096	Gly/Ser-rich.|Ser/Thr-rich.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGTGGCCACCCCTGGGCCACC	0.697																																																	0								ENSG00000188157						20	21	20					1																	982235		2192	4283	6475	AGRN	SO:0001583	missense	0			-	HGNC	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3286C>A	1.37:g.982235C>A	ENSP00000368678:p.Pro1096Thr	Somatic	0	42	0		0.652196986458672	9	18.18	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	75	25.00	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.P1096T	ENST00000379370.2	37	c.3286	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	C	1.566	-0.535312	0.04082	.	.	ENSG00000188157	ENST00000379370	T	0.75050	-0.9	4.19	3.25	0.37280	.	0.757532	0.10976	N	0.613274	T	0.56731	0.2005	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.41413	-0.9510	10	0.02654	T	1	0.0761	8.3323	0.32193	0.1772:0.6514:0.1714:0.0	.	1096	O00468	AGRIN_HUMAN	T	1096	ENSP00000368678:P1096T	ENSP00000368678:P1096T	P	+	1	0	AGRN	972098	0.035000	0.19736	0.018000	0.16275	0.050000	0.14768	1.486000	0.35530	0.938000	0.37419	0.561000	0.74099	CCT	-	NULL		0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	protein_coding	OTTHUMT00000097990.2	C	NM_198576	-		982235	1	no_errors	ENST00000379370	ensembl	human	known	74_37	missense	SNP	0.410	A	A	982235	C	A	982235	3	1	219	1	0	0	0	0	1	0	0	0	397	623	22	3	3360	3	AGRN	1	982235	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		982235	248268386	1	17732											
MAN1C1	57134	genome.wustl.edu	37	chr1	26085135	26085135	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcatcttggcggagtttGgatccctgcacttggaattc	12	10	1	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:26085135G>C	ENST00000374332.4	+	6	1312	c.982G>C	c.(982-984)Gga>Cga	p.G328R	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G148R|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G99R|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	328					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGCGGAGTTTGGATCCCTGCA	0.592																																																	0								ENSG00000117643						95	86	89					1																	26085135		2203	4300	6503	MAN1C1	SO:0001583	missense	0			-	HGNC	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.982G>C	1.37:g.26085135G>C	ENSP00000363452:p.Gly328Arg	Somatic	0	74	0		0.652196986458672	30	11.76	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	121	15.97	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G328R	ENST00000374332.4	37	c.982	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843600	0.91197	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.79940	-1.32;-1.32;-1.32	4.71	4.71	0.59529	.	0.112708	0.64402	D	0.000011	D	0.94453	0.8215	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96910	0.9666	10	0.87932	D	0	.	16.4228	0.83772	0.0:0.0:1.0:0.0	.	328	Q9NR34	MA1C1_HUMAN	R	328;148;148;99	ENSP00000363452:G328R;ENSP00000263979:G148R;ENSP00000363449:G99R	ENSP00000263979:G148R	G	+	1	0	MAN1C1	25957722	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.949000	0.93012	2.447000	0.82792	0.655000	0.94253	GGA	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.592	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	protein_coding	OTTHUMT00000012828.3	G	NM_020379	-		26085135	1	no_errors	ENST00000374332	ensembl	human	known	74_37	missense	SNP	1.000	C	C	26085135	G	C	26085135	3	2	219	1	0	0	0	0	1	0	0	0	9215	1349	47	4	1004	4	MAN1C1	1	26085135	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	25102900	26085135	223165486	2	17733											
MACF1	23499	genome.wustl.edu	37	chr1	39765937	39765937	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgttgccagtctcgttgggaGatcaaaaaccatcgttcagc	10	11	3	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:39765937G>A	ENST00000372915.3	+	21	2639	c.2552G>A	c.(2551-2553)aGa>aAa	p.R851K	MACF1_ENST00000539005.1_Missense_Mutation_p.R851K|MACF1_ENST00000545844.1_Missense_Mutation_p.R851K|MACF1_ENST00000317713.7_Missense_Mutation_p.R851K|MACF1_ENST00000361689.2_Missense_Mutation_p.R851K|MACF1_ENST00000564288.1_Missense_Mutation_p.R846K|MACF1_ENST00000567887.1_Missense_Mutation_p.R883K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	851					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCGTTGGGAGATCAAAAACC	0.433																																																	0								ENSG00000127603						193	167	176					1																	39765937		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2552G>A	1.37:g.39765937G>A	ENSP00000362006:p.Arg851Lys	Somatic	0	38	0		0.652196986458672	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	72	18.18	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R851K	ENST00000372915.3	37	c.2552		1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325411	0.60743	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.81	5.81	0.92471	.	.	.	.	.	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	B;B	0.33299	0.105;0.407	B;B	0.35470	0.084;0.203	D	0.92738	0.6205	9	0.44086	T	0.13	.	20.0621	0.97678	0.0:0.0:1.0:0.0	.	851;816	F8W8Q1;Q9UPN3-3	.;.	K	851;851;851;851;851;809;1000;1013	ENSP00000439537:R851K;ENSP00000362006:R851K;ENSP00000354573:R851K;ENSP00000313438:R851K;ENSP00000444364:R851K;ENSP00000435070:R809K;ENSP00000437059:R1000K	ENSP00000313438:R851K	R	+	2	0	MACF1	39538524	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	8.018000	0.88722	2.750000	0.94351	0.655000	0.94253	AGA	-	NULL		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-		39765937	1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39765937	G	A	39765937	3	1	219	1	0	0	0	0	1	0	0	0	9146	942	33	2	2634	2	MACF1	1	39765937	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	13680802	39765937	209484684	3	17734											
ITGA10	8515	genome.wustl.edu	37	chr1	145528030	145528030	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgccccatgtgccaagggCcacttaggtgagaagatgcc	12	11	0	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:145528030C>A	ENST00000369304.3	+	3	442	c.267C>A	c.(265-267)ggC>ggA	p.G89G	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	89					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)					GTGCCAAGGGCCACTTAGGTG	0.582																																																	0								ENSG00000143127						8	10	10					1																	145528030		2178	4280	6458	ITGA10	SO:0001819	synonymous_variant	0			-	HGNC	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.267C>A	1.37:g.145528030C>A		Somatic	0	38	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP							pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G89	ENST00000369304.3	37	c.267	CCDS918.1	1																																																																																			-	smart_Int_alpha_beta-p		0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	C	NM_003637	-		145528030	1	no_errors	ENST00000369304	ensembl	human	known	74_37	silent	SNP	0.999	A	A	145528030	C	A	145528030	2	1	219	1	0	0	0	0	0	0	0	1	7875	726	26	3		3	ITGA10	1	145528030	Silent	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	105762093	145528030	103722591	4	17735											
GJA5	2702	genome.wustl.edu	37	chr1	147230580	147230580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagctctggactatgCccacagaggggccagaaagc	14	11	1	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:147230580C>T	ENST00000271348.2	-	2	928	c.767G>A	c.(766-768)gGc>gAc	p.G256D	GJA5_ENST00000369237.1_Missense_Mutation_p.G256D|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	256					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTGGACTATGCCCACAGAGGG	0.547																																																	0								ENSG00000143140						65	71	69					1																	147230580		2203	4300	6503	GJA5	SO:0001583	missense	0			-	HGNC		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.767G>A	1.37:g.147230580C>T	ENSP00000271348:p.Gly256Asp	Somatic	0	33	0		0.652196986458672	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	Q5T3B6|Q5U0N6	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.G256D	ENST00000271348.2	37	c.767	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	C	3.521	-0.097697	0.07010	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.82344	-1.6;-1.6	5.68	4.76	0.60689	.	2.547360	0.01189	N	0.007267	T	0.61185	0.2327	L	0.44542	1.39	0.09310	N	1	B	0.22983	0.078	B	0.18263	0.021	T	0.50242	-0.8851	10	0.26408	T	0.33	.	5.1329	0.14919	0.0:0.6345:0.1882:0.1773	.	256	P36382	CXA5_HUMAN	D	256	ENSP00000271348:G256D;ENSP00000358240:G256D	ENSP00000271348:G256D	G	-	2	0	GJA5	145697204	0.001000	0.12720	0.004000	0.12327	0.027000	0.11550	1.102000	0.31050	1.378000	0.46305	0.563000	0.77884	GGC	-	NULL		0.547	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	protein_coding	OTTHUMT00000039422.2	C	NM_181703	-		147230580	-1	no_errors	ENST00000271348	ensembl	human	known	74_37	missense	SNP	0.010	T	T	147230580	C	T	147230580	3	4	219	1	0	0	0	0	1	0	0	0	6406	739	26	2	313	2	GJA5	1	147230580	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	1702550	147230580	102020041	5	17736											
FLG	2312	genome.wustl.edu	37	chr1	152278903	152278903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagaccttccctgggatGtggtgtggctgtgatgggac	15	9	1	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:152278903G>A	ENST00000368799.1	-	3	8494	c.8459C>T	c.(8458-8460)aCa>aTa	p.T2820I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2820	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)			TCCCTGGGATGTGGTGTGGCT	0.587									Ichthyosis																																								0								ENSG00000143631						126	190	168					1																	152278903		2183	4279	6462	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.8459C>T	1.37:g.152278903G>A	ENSP00000357789:p.Thr2820Ile	Somatic	0	67	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	153	12.57	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.T2820I	ENST00000368799.1	37	c.8459	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	8.192	0.796117	0.16327	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01705	4.68	3.08	-2.04	0.07343	.	.	.	.	.	T	0.00845	0.0028	M	0.76838	2.35	0.09310	N	1	B	0.21821	0.061	B	0.17433	0.018	T	0.39800	-0.9596	9	0.54805	T	0.06	-0.5452	3.2952	0.06964	0.2358:0.0:0.459:0.3052	.	2820	P20930	FILA_HUMAN	I	2820;82	ENSP00000357789:T2820I	ENSP00000357786:T82I	T	-	2	0	FLG	150545527	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.711000	0.25764	-0.608000	0.05731	-0.683000	0.03753	ACA	-	NULL		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	-		152278903	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	A	A	152278903	G	A	152278903	3	1	219	1	0	0	0	0	1	0	0	0	5924	1377	48	2	3730	2	FLG	1	152278903	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	5048323	152278903	96971718	6	17737											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161026255	161026255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgcacagggaggagaCgcagtgaatgtcttggaggt	17	7	1	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:161026255C>T	ENST00000368013.3	-	3	588	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.V90I	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	90	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGGAGGAGACGCAGTGAATG	0.577																																																	0								ENSG00000186517						86	77	80					1																	161026255		2203	4300	6503	ARHGAP30	SO:0001583	missense	0			-	HGNC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.268G>A	1.37:g.161026255C>T	ENSP00000356992:p.Val90Ile	Somatic	0	55	0		0.652196986458672	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	12	83.78	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V90I	ENST00000368013.3	37	c.268	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735538	0.89482	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.22539	1.95;1.95	5.34	5.34	0.76211	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.28599	0.0708	L	0.42008	1.315	0.80722	D	1	D;D	0.60160	0.987;0.984	D;P	0.67231	0.95;0.7	T	0.00948	-1.1504	10	0.45353	T	0.12	.	16.6077	0.84835	0.0:1.0:0.0:0.0	.	90;90	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	I	90	ENSP00000356995:V90I;ENSP00000356992:V90I	ENSP00000356992:V90I	V	-	1	0	ARHGAP30	159292879	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.775000	0.68915	2.500000	0.84329	0.650000	0.86243	GTC	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.577	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	protein_coding	OTTHUMT00000077090.2	C	NM_181720	-		161026255	-1	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	SNP	1.000	T	T	161026255	C	T	161026255	3	4	219	1	0	0	0	0	1	0	0	0	879	536	19	1	3077	1	ARHGAP30	1	161026255	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	8747352	161026255	88224366	7	17738											
RGS18	64407	genome.wustl.edu	37	chr1	192127851	192127851	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagttaatacatggttcAggaaaagaagaaacaagcaa	8	5	2	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:192127851A>T	ENST00000367460.3	+	1	265	c.84A>T	c.(82-84)tcA>tcT	p.S28S	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	28					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACATGGTTCAGGAAAAGAAG	0.279																																																	0								ENSG00000150681						48	52	50					1																	192127851		2202	4288	6490	RGS18	SO:0001819	synonymous_variant	0			-	HGNC	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.84A>T	1.37:g.192127851A>T		Somatic	0	36	0		0.652196986458672	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	138	13.21	B2RD23	Silent	SNP							pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S28	ENST00000367460.3	37	c.84	CCDS1374.1	1																																																																																			-	NULL		0.279	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS18	protein_coding	OTTHUMT00000086382.1	A	NM_130782	-		192127851	1	no_errors	ENST00000367460	ensembl	human	known	74_37	silent	SNP	0.752	T	T	192127851	A	T	192127851	2	4	219	1	0	0	0	0	0	0	0	1	13308	175	7	5		5	RGS18	1	192127851	Silent	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	31101596	192127851	57122770	8	17739											
WDR64	128025	genome.wustl.edu	37	chr1	241907737	241907737	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaagtataccagattttaGaacctcatggtttcaatact	5	9	2	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr1:241907737G>T	ENST00000366552.2	+	12	1690	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.E495*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	495										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)			CCAGATTTTAGAACCTCATGG	0.413																																																	0								ENSG00000162843						113	112	113					1																	241907737		2203	4300	6503	WDR64	SO:0001587	stop_gained	0			-	HGNC	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.1483G>T	1.37:g.241907737G>T	ENSP00000355510:p.Glu495*	Somatic	0	63	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	11	84.29	B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E495*	ENST00000366552.2	37	c.1483		1	.	.	.	.	.	.	.	.	.	.	G	41	9.101020	0.99066	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	.	.	.	6.08	6.08	0.98989	.	0.073883	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.0056	11.4914	0.50383	0.081:0.0:0.919:0.0	.	.	.	.	X	495;495;266	.	ENSP00000355510:E495X	E	+	1	0	WDR64	239974360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.314000	0.59166	2.894000	0.99253	0.655000	0.94253	GAA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.413	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	protein_coding		G	NM_144625	-		241907737	1	no_errors	ENST00000366552	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	241907737	G	T	241907737	4	4	219	1	0	0	0	0	0	1	0	0	17322	943	33	3	1529	3	WDR64	1	241907737	Nonsense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	49779886	241907737	7342884	9	17740											
NRBP1	29959	genome.wustl.edu	37	chr2	27656343	27656343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggcgctggcagaagaggcGagaagaggtaaggttatggt	19	4	0	4			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr2:27656343G>T	ENST00000233557.3	+	3	1035	c.203G>T	c.(202-204)cGa>cTa	p.R68L	NRBP1_ENST00000379863.3_Missense_Mutation_p.R68L|NRBP1_ENST00000379852.3_Missense_Mutation_p.R68L			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAGAAGAGGCGAGAAGAGGTA	0.483																																																	0								ENSG00000115216						47	46	46					2																	27656343		2203	4300	6503	NRBP1	SO:0001583	missense	0			-	HGNC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.203G>T	2.37:g.27656343G>T	ENSP00000233557:p.Arg68Leu	Somatic	0	29	0		0.652196986458672	210	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R68L	ENST00000233557.3	37	c.203	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628572	0.87560	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863;ENST00000419281;ENST00000356442	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.27	5.27	0.74061	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.73962	2.25	0.58432	D	0.999999	D;P	0.53619	0.961;0.934	P;P	0.61070	0.883;0.766	D	0.97318	0.9942	10	0.46703	T	0.11	-0.2237	15.5895	0.76517	0.0:0.0:1.0:0.0	.	68;68	F8W6G1;Q9UHY1	.;NRBP_HUMAN	L	68;48;68;68;68;68	ENSP00000233557:R68L;ENSP00000369181:R68L;ENSP00000369192:R68L;ENSP00000403916:R68L;ENSP00000415406:R68L	ENSP00000233557:R68L	R	+	2	0	NRBP1	27509847	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.010000	0.64004	2.469000	0.83416	0.563000	0.77884	CGA	-	pfscan_Prot_kinase_dom		0.483	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	protein_coding	OTTHUMT00000215033.1	G	NM_013392	-		27656343	1	no_errors	ENST00000233557	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27656343	G	T	27656343	3	4	219	1	0	0	0	0	1	0	0	0	10644	1058	37	3	205	3	NRBP1	2	27656343	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		27656343	215543030	10	17741											
SAP130	79595	genome.wustl.edu	37	chr2	128783869	128783869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactgttgagaactcatttCcacctgtagtacatacagtt	6	9	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr2:128783869C>T	ENST00000259235.3	-	2	205	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	SAP130_ENST00000357702.5_Missense_Mutation_p.E26K|SAP130_ENST00000259234.6_5'UTR	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	26					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)			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)		GAACTCATTTCCACCTGTAGT	0.418																																																	0								ENSG00000136715						75	79	78					2																	128783869		2203	4300	6503	SAP130	SO:0001583	missense	0			-	HGNC	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.76G>A	2.37:g.128783869C>T	ENSP00000259235:p.Glu26Lys	Somatic	0	87	0		0.652196986458672	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	95	15.18	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP							NULL	p.E26K	ENST00000259235.3	37	c.76	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	C	18.54	3.647087	0.67358	.	.	ENSG00000136715	ENST00000357702;ENST00000259235	.	.	.	5.2	5.2	0.72013	.	0.121256	0.53938	D	0.000045	T	0.46678	0.1405	N	0.04508	-0.205	0.38795	D	0.955063	D;D	0.67145	0.996;0.996	D;D	0.73708	0.981;0.981	T	0.42565	-0.9444	9	0.06757	T	0.87	.	15.6615	0.77190	0.0:1.0:0.0:0.0	.	26;26	B7ZLM3;Q9H0E3	.;SP130_HUMAN	K	26	.	ENSP00000259235:E26K	E	-	1	0	SAP130	128500339	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.722000	0.61958	2.422000	0.82143	0.555000	0.69702	GAA	-	NULL		0.418	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	protein_coding	OTTHUMT00000254436.3	C	NM_024545	-		128783869	-1	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	SNP	1.000	T	T	128783869	C	T	128783869	3	4	219	1	0	0	0	0	1	0	0	0	13839	864	30	2	3255	2	SAP130	2	128783869	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	101127526	128783869	114415504	11	17742											
XIRP2	129446	genome.wustl.edu	37	chr2	168108404	168108404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatatgcaaccgcagatgCttctgcaactgagatgagaa	12	8	1	3			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr2:168108404C>A	ENST00000409195.1	+	9	10591	c.10502C>A	c.(10501-10503)gCt>gAt	p.A3501D	XIRP2_ENST00000409273.1_Missense_Mutation_p.A3279D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3501D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3326					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						ACCGCAGATGCTTCTGCAACT	0.383																																																	0								ENSG00000163092						68	65	66					2																	168108404		1860	4090	5950	XIRP2	SO:0001583	missense	0			-	HGNC	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.10502C>A	2.37:g.168108404C>A	ENSP00000386840:p.Ala3501Asp	Somatic	0	49	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP							pfam_Actin-binding_Xin_repeat	p.A3501D	ENST00000409195.1	37	c.10502	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	2.301	-0.360075	0.05103	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02837	4.14;4.14;4.14	6.02	3.22	0.36961	.	0.454356	0.25851	N	0.027896	T	0.02848	0.0085	L	0.38838	1.175	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.12156	0.003;0.007;0.003	T	0.41680	-0.9495	10	0.42905	T	0.14	-6.4636	7.2307	0.26040	0.1295:0.6778:0.1247:0.0681	.	3326;3326;3279	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	3501;3501;3279;915	ENSP00000386840:A3501D;ENSP00000295237:A3501D;ENSP00000387255:A3279D	ENSP00000295237:A3501D	A	+	2	0	XIRP2	167816650	0.095000	0.21747	0.056000	0.19401	0.146000	0.21551	1.606000	0.36826	0.406000	0.25560	-0.158000	0.13435	GCT	-	NULL		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168108404	1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.128	A	A	168108404	C	A	168108404	3	1	219	1	0	0	0	0	1	0	0	0	17437	797	28	3	10532	3	XIRP2	2	168108404	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	39324535	168108404	75090969	12	17743											
LRP2	4036	genome.wustl.edu	37	chr2	170060691	170060691	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagtccagtaaatatactgGccatagagagtcaagccaaa	8	9	2	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr2:170060691G>C	ENST00000263816.3	-	42	8091	c.7806C>G	c.(7804-7806)ggC>ggG	p.G2602G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2602					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AAATATACTGGCCATAGAGAG	0.453																																																	0								ENSG00000081479						152	162	159					2																	170060691		2203	4300	6503	LRP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7806C>G	2.37:g.170060691G>C		Somatic	0	36	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	O00711|Q16215	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2602	ENST00000263816.3	37	c.7806	CCDS2232.1	2																																																																																			-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	G	NM_004525	-		170060691	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	SNP	0.992	C	C	170060691	G	C	170060691	2	2	219	1	0	0	0	0	0	0	0	1	8958	1190	42	4		4	LRP2	2	170060691	Silent	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	1952287	170060691	73138682	13	17744											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202359471	202359471	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggatcaaaaccgttcttgttGaatttctgaaactgcaatat	7	7	3	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr2:202359471G>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.F531L|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CGTTCTTGTTGAATTTCTGAA	0.264																																																	0								ENSG00000155754						12	10	10					2																	202359471		691	1567	2258	ALS2CR11	SO:0001627	intron_variant	0			-	HGNC	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.1581+1146C>A	2.37:g.202359471G>T		Somatic	0	62	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP							superfamily_C2_dom	p.F531L	ENST00000286195.3	37	c.1593	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778510	0.31502	.	.	ENSG00000155754	ENST00000439140	T	0.40225	1.04	5.2	4.33	0.51752	.	.	.	.	.	T	0.24275	0.0588	N	0.22421	0.69	0.21527	N	0.999652	B	0.02656	0.0	B	0.06405	0.002	T	0.24548	-1.0157	9	0.02654	T	1	.	9.3708	0.38252	0.0954:0.0:0.9046:0.0	.	531	E9PGG4	.	L	531	ENSP00000409937:F531L	ENSP00000409937:F531L	F	-	3	2	ALS2CR11	202067716	0.250000	0.23951	0.004000	0.12327	0.017000	0.09413	1.544000	0.36158	1.424000	0.47217	0.655000	0.94253	TTC	-	NULL		0.264	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	protein_coding	OTTHUMT00000256296.2	G	NM_152525	-		202359471	-1	no_errors	ENST00000439140	ensembl	human	novel	74_37	missense	SNP	0.005	T	T	202359471	G	T	202359471	1	4	219	0	1	0	0	0	0	0	0	0	552	1281	45	3		3	ALS2CR11	2	202359471	Intron	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	32298780	202359471	40839902	14	17745											
SEMA3F	6405	genome.wustl.edu	37	chr3	50220202	50220202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggtgtacgcccgcatcGggcgcatttgcctggtatgc	14	14	0	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr3:50220202G>A	ENST00000002829.3	+	9	1373	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	SEMA3F_ENST00000413852.1_Missense_Mutation_p.G198R|SEMA3F_ENST00000434342.1_Missense_Mutation_p.G266R	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	297	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGCCCGCATCGGGCGCATTTG	0.617																																																	0								ENSG00000001617						42	49	46					3																	50220202		2202	4299	6501	SEMA3F	SO:0001583	missense	0			-	HGNC	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.889G>A	3.37:g.50220202G>A	ENSP00000002829:p.Gly297Arg	Somatic	0	18	0		0.652196986458672	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP							pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.G297R	ENST00000002829.3	37	c.889	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887429	0.72410	.	.	ENSG00000001617	ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.973	T	0.68284	-0.5449	10	0.87932	D	0	.	16.9353	0.86202	0.0:0.0:1.0:0.0	.	266;297	C9JQ85;Q13275	.;SEM3F_HUMAN	R	266;198;297;266	ENSP00000398399:G266R;ENSP00000388931:G198R;ENSP00000002829:G297R;ENSP00000409859:G266R	ENSP00000002829:G297R	G	+	1	0	SEMA3F	50195206	1.000000	0.71417	0.992000	0.48379	0.014000	0.08584	9.439000	0.97543	2.598000	0.87819	0.462000	0.41574	GGG	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.617	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	protein_coding	OTTHUMT00000345929.1	G	NM_004186	-		50220202	1	no_errors	ENST00000002829	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50220202	G	A	50220202	3	1	219	1	0	0	0	0	1	0	0	0	14037	1116	39	1	919	1	SEMA3F	3	50220202	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		50220202	147802228	15	17746											
DHX15	1665	genome.wustl.edu	37	chr4	24542566	24542566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaaatctcaggataggtGttatcctagcaaagaacaaa	8	8	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr4:24542566G>C	ENST00000336812.4	-	9	1647	c.1491C>G	c.(1489-1491)aaC>aaG	p.N497K	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	497	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAGGATAGGTGTTATCCTAGC	0.353																																																	0								ENSG00000109606						82	78	79					4																	24542566		2203	4300	6503	DHX15	SO:0001583	missense	0			-	HGNC	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1491C>G	4.37:g.24542566G>C	ENSP00000336741:p.Asn497Lys	Somatic	0	36	0		0.652196986458672	71	21.11	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	Q9NQT7	Missense_Mutation	SNP							pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N497K	ENST00000336812.4	37	c.1491	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689946	0.48097	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.04194	3.68	5.97	-1.55	0.08558	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06462	0.0166	L	0.55990	1.75	0.80722	D	1	B	0.25521	0.128	B	0.29353	0.101	T	0.23904	-1.0175	10	0.59425	D	0.04	-13.6397	13.3137	0.60394	0.5718:0.0:0.4282:0.0	.	497	O43143	DHX15_HUMAN	K	497;486	ENSP00000336741:N497K	ENSP00000336741:N497K	N	-	3	2	DHX15	24151664	0.953000	0.32496	0.988000	0.46212	0.982000	0.71751	0.053000	0.14184	-0.266000	0.09339	-0.140000	0.14226	AAC	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.353	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	protein_coding	OTTHUMT00000360143.1	G	NM_001358	-		24542566	-1	no_errors	ENST00000336812	ensembl	human	known	74_37	missense	SNP	0.912	C	C	24542566	G	C	24542566	3	2	219	1	0	0	0	0	1	0	0	0	4503	1368	48	4	920	4	DHX15	4	24542566	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		24542566	166611710	16	17747											
FRAS1	80144	genome.wustl.edu	37	chr4	79461845	79461845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccttgatgattccctcaTctatgacaatgaaggagacc	8	10	2	5			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr4:79461845T>C	ENST00000264895.6	+	74	12046	c.11606T>C	c.(11605-11607)aTc>aCc	p.I3869T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3865					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						GATTCCCTCATCTATGACAAT	0.552																																																	0								ENSG00000138759						43	46	45					4																	79461845		2030	4186	6216	FRAS1	SO:0001583	missense	0			-	HGNC	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	ENST00000264895.6:c.11606T>C	4.37:g.79461845T>C	ENSP00000264895:p.Ile3869Thr	Somatic	0	16	0		0.652196986458672	5	50	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP							pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.I3869T	ENST00000264895.6	37	c.11606	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	T	16.05	3.011873	0.54468	.	.	ENSG00000138759	ENST00000264895	T	0.46819	0.86	6.16	6.16	0.99307	.	0.114885	0.64402	D	0.000016	T	0.57417	0.2052	L	0.42245	1.32	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.59252	-0.7489	10	0.72032	D	0.01	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	3869	E9PHH6	.	T	3869	ENSP00000264895:I3869T	ENSP00000264895:I3869T	I	+	2	0	FRAS1	79680869	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.854000	0.86942	2.367000	0.80283	0.528000	0.53228	ATC	-	NULL		0.552	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		T		-		79461845	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	C	C	79461845	T	C	79461845	3	2	219	1	0	0	0	0	1	0	0	0	6044	1435	50	5	11975	5	FRAS1	4	79461845	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	54919279	79461845	111692431	17	17748											
HERC3	8916	genome.wustl.edu	37	chr4	89574169	89574169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggctcacagctttgccCtgtctctctcaggagctgtt	12	12	3	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr4:89574169C>T	ENST00000402738.1	+	6	852	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	HERC3_ENST00000407637.1_Silent_p.L205L|HERC3_ENST00000264345.3_Silent_p.L205L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	205					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAGCTTTGCCCTGTCTCTCTC	0.567																																																	0								ENSG00000138641						65	74	71					4																	89574169		2203	4300	6503	HERC3	SO:0001819	synonymous_variant	0			-	HGNC	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.613C>T	4.37:g.89574169C>T		Somatic	0	52	0		0.652196986458672	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	67	38.53	A8K1S5|Q8IXX3	Silent	SNP							pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L205	ENST00000402738.1	37	c.613	CCDS34028.1	4																																																																																			-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.567	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	protein_coding	OTTHUMT00000318081.2	C	NM_014606	-		89574169	1	no_errors	ENST00000264345	ensembl	human	known	74_37	silent	SNP	1.000	T	T	89574169	C	T	89574169	2	4	219	1	0	0	0	0	0	0	0	1	7061	680	24	2		2	HERC3	4	89574169	Silent	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	10112324	89574169	101580107	18	17749											
MAB21L2	10586	genome.wustl.edu	37	chr4	151504396	151504396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcgaggtcatttcgcccaCcgaatttgaggtggtgctct	12	11	2	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr4:151504396C>A	ENST00000317605.4	+	1	1320	c.215C>A	c.(214-216)aCc>aAc	p.T72N	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	72					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATTTCGCCCACCGAATTTGAG	0.602																																																	0								ENSG00000181541						74	66	69					4																	151504396		2203	4300	6503	MAB21L2	SO:0001583	missense	0			-	HGNC	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.215C>A	4.37:g.151504396C>A	ENSP00000324701:p.Thr72Asn	Somatic	0	24	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	49	35.53	B3KP37|Q9HBA7	Missense_Mutation	SNP							pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.T72N	ENST00000317605.4	37	c.215	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333140	0.24167	.	.	ENSG00000181541	ENST00000317605	T	0.06528	3.29	5.91	5.91	0.95273	.	0.113905	0.64402	D	0.000020	T	0.06826	0.0174	N	0.25890	0.77	0.45464	D	0.998434	B	0.06786	0.001	B	0.11329	0.006	T	0.44236	-0.9341	10	0.15499	T	0.54	-17.2012	20.2985	0.98592	0.0:1.0:0.0:0.0	.	72	Q9Y586	MB212_HUMAN	N	72	ENSP00000324701:T72N	ENSP00000324701:T72N	T	+	2	0	MAB21L2	151723846	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	4.646000	0.61411	2.793000	0.96121	0.655000	0.94253	ACC	-	pfam_Mab-21_dom		0.602	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	protein_coding	OTTHUMT00000364937.1	C	NM_006439	-		151504396	1	no_errors	ENST00000317605	ensembl	human	known	74_37	missense	SNP	0.999	A	A	151504396	C	A	151504396	3	1	219	1	0	0	0	0	1	0	0	0	9144	507	18	3	217	3	MAB21L2	4	151504396	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	61930227	151504396	39649880	19	17750											
PDE6A	5145	genome.wustl.edu	37	chr5	149245772	149245772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtcaatgaagccgacTtgaagcttagggagttcatc	10	8	2	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr5:149245772T>C	ENST00000255266.5	-	20	2438	c.2319A>G	c.(2317-2319)caA>caG	p.Q773Q		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	773					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)	TGAAGCCGACTTGAAGCTTAG	0.468																																																	0								ENSG00000132915						177	162	167					5																	149245772		2203	4300	6503	PDE6A	SO:0001819	synonymous_variant	0			-	HGNC		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.2319A>G	5.37:g.149245772T>C		Somatic	0	57	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	42	44.74	Q0P638	Silent	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Q773	ENST00000255266.5	37	c.2319	CCDS4299.1	5																																																																																			-	pfam_PDEase_catalytic_dom		0.468	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	protein_coding	OTTHUMT00000252326.2	T		-		149245772	-1	no_errors	ENST00000255266	ensembl	human	known	74_37	silent	SNP	1.000	C	C	149245772	T	C	149245772	2	2	219	1	0	0	0	0	0	0	0	1	11647	1606	56	5		5	PDE6A	5	149245772	Silent	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09		149245772	31669488	20	17751											
UNC5A	90249	genome.wustl.edu	37	chr5	176301567	176301567	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgatgatccctaatacaGgtaggaaggaccccaggggg	15	9	0	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr5:176301567G>T	ENST00000329542.4	+	8	1652	c.1378G>T	c.(1378-1380)Gga>Tga	p.G460*	UNC5A_ENST00000261961.3_Splice_Site_p.G420*	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	460	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTAATACAGGTAGGAAGGA	0.632																																																	0								ENSG00000113763						48	57	54					5																	176301567		2203	4300	6503	UNC5A	SO:0001630	splice_region_variant	0			-	HGNC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1378+1G>T	5.37:g.176301567G>T		Somatic	0	52	0		0.652196986458672	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	B2RXE6|Q8TF26|Q96GP4	Nonsense_Mutation	SNP							pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G460*	ENST00000329542.4	37	c.1378	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.609713	0.98387	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.772	19.0461	0.93020	0.0:0.0:1.0:0.0	.	.	.	.	X	460;420	.	ENSP00000261961:G420X	G	+	1	0	UNC5A	176234173	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.823000	0.99369	2.516000	0.84829	0.491000	0.48974	GGA	-	pfam_ZU5,smart_ZU5,pfscan_ZU5		0.632	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	protein_coding	OTTHUMT00000372166.1	G	XM_030300	-	Nonsense_Mutation	176301567	1	no_errors	ENST00000329542	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	176301567	G	T	176301567	5	4	219	1	0	0	0	0	0	0	1	0	16998	1014	35	3	1408	3	UNC5A	5	176301567	Splice_Site	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	27055795	176301567	4613693	21	17752											
RIOK1	83732	genome.wustl.edu	37	chr6	7398933	7398933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgtttttggttaggtAtcgcatcaaagataaggcag	11	4	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr6:7398933A>G	ENST00000379834.2	+	5	947	c.440A>G	c.(439-441)tAt>tGt	p.Y147C		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	147							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTGGTTAGGTATCGCATCAAA	0.318																																																	0								ENSG00000124784						219	212	214					6																	7398933		2203	4300	6503	RIOK1	SO:0001583	missense	0			-	HGNC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.440A>G	6.37:g.7398933A>G	ENSP00000369162:p.Tyr147Cys	Somatic	0	37	0		0.652196986458672	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	36	49.30	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP							pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.Y147C	ENST00000379834.2	37	c.440	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805808	0.31961	.	.	ENSG00000124784	ENST00000379834	T	0.05649	3.41	5.05	2.66	0.31614	.	0.196582	0.45606	N	0.000353	T	0.02230	0.0069	L	0.43152	1.355	0.44469	D	0.997407	B	0.06786	0.001	B	0.12837	0.008	T	0.36817	-0.9732	10	0.39692	T	0.17	-8.5851	8.7028	0.34336	0.7687:0.0:0.2313:0.0	.	147	Q9BRS2	RIOK1_HUMAN	C	147	ENSP00000369162:Y147C	ENSP00000369162:Y147C	Y	+	2	0	RIOK1	7343932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.161000	0.58170	0.352000	0.24053	0.482000	0.46254	TAT	-	pirsf_Ser/Thr_kinase_Rio1		0.318	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	protein_coding	OTTHUMT00000039780.2	A	NM_031480	-		7398933	1	no_errors	ENST00000379834	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7398933	A	G	7398933	3	3	219	1	0	0	0	0	1	0	0	0	13385	449	16	5	458	5	RIOK1	6	7398933	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09		7398933	163716134	22	17753											
ZSCAN23	222696	genome.wustl.edu	37	chr6	28403655	28403655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctctcctgggtcatccAgctctctctccaaatcctcc	5	19	4	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr6:28403655A>G	ENST00000289788.4	-	2	534	c.389T>C	c.(388-390)cTg>cCg	p.L130P	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	130	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(1)|prostate(1)|stomach(2)	4						TGGGTCATCCAGCTCTCTCTC	0.532																																																	0								ENSG00000187987						100	89	92					6																	28403655		692	1591	2283	ZSCAN23	SO:0001583	missense	0			-	HGNC	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.389T>C	6.37:g.28403655A>G	ENSP00000289788:p.Leu130Pro	Somatic	0	30	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q96KV9	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L130P	ENST00000289788.4	37	c.389	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112263	0.37242	.	.	ENSG00000187987	ENST00000289788	T	0.05996	3.36	3.62	3.62	0.41486	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.36200	N	0.002739	T	0.10981	0.0268	M	0.69185	2.1	0.53005	D	0.999964	P;D	0.89917	0.72;1.0	P;D	0.74674	0.447;0.984	T	0.01839	-1.1263	10	0.39692	T	0.17	.	8.921	0.35612	1.0:0.0:0.0:0.0	.	130;130	G3V1D5;Q3MJ62	.;ZSC23_HUMAN	P	130	ENSP00000289788:L130P	ENSP00000289788:L130P	L	-	2	0	ZSCAN23	28511634	0.999000	0.42202	1.000000	0.80357	0.802000	0.45316	1.219000	0.32479	1.855000	0.53841	0.455000	0.32223	CTG	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.532	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	protein_coding	OTTHUMT00000043751.2	A	XM_167147	-		28403655	-1	no_errors	ENST00000289788	ensembl	human	known	74_37	missense	SNP	1.000	G	G	28403655	A	G	28403655	3	3	219	1	0	0	0	0	1	0	0	0	18242	188	7	5	792	5	ZSCAN23	6	28403655	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	21004722	28403655	142711412	23	17754											
ETV7	51513	genome.wustl.edu	37	chr6	36353379	36353379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgagcttcacatctggctTgcacgtgggtgcctagggga	14	9	2	1	rs370294288		TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr6:36353379T>C	ENST00000340181.4	-	2	315	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	ETV7_ENST00000339796.5_Missense_Mutation_p.Q25R|RP1-50J22.4_ENST00000411643.1_RNA|ETV7_ENST00000373737.4_Missense_Mutation_p.Q25R|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Missense_Mutation_p.Q25R	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	25					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						ACATCTGGCTTGCACGTGGGT	0.517																																																	0								ENSG00000010030	T	ARG/GLN,ARG/GLN,,ARG/GLN,ARG/GLN,,,ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	81	82	82		74,74,,74,74,,,74	2.5	0	6		82	0,8600		0,0,4300	no	missense,missense,utr-5,missense,missense,intron,intron,missense	ETV7	NM_001207035.1,NM_001207036.1,NM_001207037.1,NM_001207038.1,NM_001207039.1,NM_001207040.1,NM_001207041.1,NM_016135.3	43,43,,43,43,,,43	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,,benign,benign,,,benign	25/318,25/287,,25/265,25/263,,,25/342	36353379	1,13005	2203	4300	6503	ETV7	SO:0001583	missense	0			-	HGNC	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.74A>G	6.37:g.36353379T>C	ENSP00000341843:p.Gln25Arg	Somatic	0	26	0		0.652196986458672	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP							pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q25R	ENST00000340181.4	37	c.74	CCDS4819.1	6	.	.	.	.	.	.	.	.	.	.	T	0.102	-1.150063	0.01700	2.27E-4	0.0	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738	T;T;T;T	0.13196	3.12;3.12;2.77;2.61	3.63	2.45	0.29901	Sterile alpha motif/pointed domain (1);	0.882556	0.09506	U	0.792903	T	0.03915	0.0110	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;D;B	0.56968	0.004;0.002;0.002;0.978;0.007	B;B;B;P;B	0.50754	0.003;0.004;0.003;0.649;0.009	T	0.19516	-1.0303	10	0.12430	T	0.62	.	4.3915	0.11343	0.0:0.1119:0.2003:0.6878	.	25;25;25;25;25	Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;ETV7_HUMAN;.;.	R	25	ENSP00000342260:Q25R;ENSP00000341843:Q25R;ENSP00000362842:Q25R;ENSP00000362843:Q25R	ENSP00000342260:Q25R	Q	-	2	0	ETV7	36461357	0.019000	0.18553	0.042000	0.18584	0.046000	0.14306	0.139000	0.16036	0.314000	0.23086	0.377000	0.23210	CAA	-	superfamily_SAM/pointed		0.517	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETV7	protein_coding	OTTHUMT00000040341.1	T	NM_016135	-		36353379	-1	no_errors	ENST00000340181	ensembl	human	known	74_37	missense	SNP	0.008	C	C	36353379	T	C	36353379	3	2	219	1	0	0	0	0	1	0	0	0	5286	1812	63	5	979	5	ETV7	6	36353379	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	7949724	36353379	134761688	24	17755											
WIPF3	644150	genome.wustl.edu	37	chr7	29874401	29874401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccccgcctctgggggctCctccccctcccccaccatca	6	25	2	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr7:29874401C>T	ENST00000409290.1	+	1	61	c.61C>T	c.(61-63)Cct>Tct	p.P21S	WIPF3_ENST00000409123.1_Missense_Mutation_p.P21S|WIPF3_ENST00000242140.5_Missense_Mutation_p.P21S	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	21					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						tctgggggctcctccccctcc	0.562																																																	0								ENSG00000122574						13	14	14					7																	29874401		937	2074	3011	WIPF3	SO:0001583	missense	0			-	HGNC	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.61C>T	7.37:g.29874401C>T	ENSP00000386878:p.Pro21Ser	Somatic	1	106	0.93		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	203	23.60	B8ZZV2	Missense_Mutation	SNP							pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P21S	ENST00000409290.1	37	c.61	CCDS56472.1	7	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706428	0.48412	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.62941	0.01;-0.01;0.01	4.56	4.56	0.56223	.	2.602770	0.04222	U	0.333688	T	0.75309	0.3832	L	0.39898	1.24	0.34709	D	0.727537	D	0.89917	1.0	D	0.79108	0.992	T	0.65841	-0.6070	10	0.87932	D	0	.	13.0067	0.58710	0.0:1.0:0.0:0.0	.	21	A6NGB9	WIPF3_HUMAN	S	21	ENSP00000386790:P21S;ENSP00000386878:P21S;ENSP00000242140:P21S	ENSP00000242140:P21S	P	+	1	0	WIPF3	29840926	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.716000	0.37981	2.527000	0.85204	0.655000	0.94253	CCT	-	NULL		0.562	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	WIPF3	protein_coding	OTTHUMT00000327705.1	C		-		29874401	1	no_errors	ENST00000242140	ensembl	human	known	74_37	missense	SNP	1.000	T	T	29874401	C	T	29874401	3	4	219	1	0	0	0	0	1	0	0	0	17376	855	30	2	63	2	WIPF3	7	29874401	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		29874401	129264262	25	17756											
EPDR1	54749	genome.wustl.edu	37	chr7	37960286	37960286	+	5'UTR	DEL	A	A	-													cagtggcagcaggcagtggcAgcaggcagtggcccaggcag							TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr7:37960286delA	ENST00000199448.4	+	0	124				EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.A36fs|EPDR1_ENST00000423717.1_5'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGCAGTGGCAGCAGGCAGTG	0.637																																																	0								ENSG00000086289						19	24	22					7																	37960286		2203	4300	6503	EPDR1	SO:0001623	5_prime_UTR_variant	0				HGNC	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-256A>-	7.37:g.37960286delA		Somatic	0	49	0		0.652196986458672	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	90	11.76	A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Del	DEL							pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.A36fs	ENST00000199448.4	37	c.105	CCDS5454.2	7																																																																																			-	NULL		0.637	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	protein_coding	OTTHUMT00000220037.3	A	NM_017549			37960286	1	no_errors	ENST00000559325	ensembl	human	known	74_37	frame_shift_del	DEL	0.042	-	-	37960286	A	-	37960286	6	5	219	0	1	1	0	1	0	0	0	0	5165	175	7	0		0	EPDR1	7	37960286	5'UTR	DEL	A	TCGA-VT-A80G-01A-11D-A36J-09	8085885	37960286	121178377	26	17757											
COBL	23242	genome.wustl.edu	37	chr7	51096413	51096413	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgcgtgggcacaggggTggaggggggtcccctggcag	21	10	1	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr7:51096413T>A	ENST00000265136.7	-	10	2545	c.2380A>T	c.(2380-2382)Acc>Tcc	p.T794S	COBL_ENST00000395542.2_Missense_Mutation_p.T876S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	794					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCACAGGGGTGGAGGGGGGT	0.602																																					NSCLC(189;2119 2138 12223 30818 34679)												0								ENSG00000106078						41	46	44					7																	51096413		2203	4300	6503	COBL	SO:0001583	missense	0			-	HGNC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2380A>T	7.37:g.51096413T>A	ENSP00000265136:p.Thr794Ser	Somatic	0	23	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	28	42.00	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP							pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.T876S	ENST00000265136.7	37	c.2626	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	T	6.115	0.389385	0.11581	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	4.71	-7.92	0.01160	.	0.934280	0.08852	N	0.884297	T	0.07818	0.0196	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.30605	0.001;0.001;0.009;0.287;0.112	B;B;B;B;B	0.27380	0.003;0.003;0.002;0.079;0.013	T	0.16305	-1.0407	10	0.33940	T	0.23	.	3.3138	0.07026	0.0859:0.2339:0.2104:0.4698	.	794;851;794;876;336	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	S	794;686;679;876	ENSP00000265136:T794S;ENSP00000401204:T686S;ENSP00000413498:T679S;ENSP00000378912:T876S	ENSP00000265136:T794S	T	-	1	0	COBL	51063907	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-1.845000	0.01176	-2.821000	0.00108	ACC	-	NULL		0.602	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	protein_coding	OTTHUMT00000342682.1	T	NM_015198	-		51096413	-1	no_errors	ENST00000395542	ensembl	human	known	74_37	missense	SNP	0.000	A	A	51096413	T	A	51096413	3	1	219	1	0	0	0	0	1	0	0	0	3655	1696	59	5	1421	5	COBL	7	51096413	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	13136127	51096413	108042250	27	17758											
PCLO	27445	genome.wustl.edu	37	chr7	82578814	82578814	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatagccctcggtatactgaAaaggagccctggaactttcg	10	10	0	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr7:82578814A>T	ENST00000333891.9	-	6	11427	c.11090T>A	c.(11089-11091)tTt>tAt	p.F3697Y	PCLO_ENST00000423517.2_Missense_Mutation_p.F3697Y|PCLO_ENST00000437081.1_Missense_Mutation_p.F417Y	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						GGTATACTGAAAAGGAGCCCT	0.468																																																	0								ENSG00000186472						179	172	175					7																	82578814		1909	4137	6046	PCLO	SO:0001583	missense	0			-	HGNC	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.11090T>A	7.37:g.82578814A>T	ENSP00000334319:p.Phe3697Tyr	Somatic	0	38	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	46	34.29		Missense_Mutation	SNP							pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.F3697Y	ENST00000333891.9	37	c.11090	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239359	0.58995	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.21191	2.02;2.02	5.92	4.75	0.60458	.	.	.	.	.	T	0.23926	0.0579	L	0.58428	1.81	0.35627	D	0.809886	B;B;B	0.14438	0.001;0.01;0.01	B;B;B	0.15484	0.002;0.013;0.013	T	0.13899	-1.0492	9	0.87932	D	0	.	12.3874	0.55340	0.8736:0.0:0.0:0.1263	.	3628;3697;3697	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Y	3628;3697;3697;417	ENSP00000334319:F3697Y;ENSP00000388393:F3697Y	ENSP00000334319:F3697Y	F	-	2	0	PCLO	82416750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.466000	0.66731	1.027000	0.39758	0.528000	0.53228	TTT	-	NULL		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	A	NM_014510	-		82578814	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T	T	82578814	A	T	82578814	3	4	219	1	0	0	0	0	1	0	0	0	11585	14	1	5	4435	5	PCLO	7	82578814	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	31482401	82578814	76559849	28	17759											
RIMS2	9699	genome.wustl.edu	37	chr8	104709367	104709367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtaaagaagatgggagAagaatcacagcaacagcaag	13	6	1	4			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr8:104709367A>C	ENST00000406091.3	+	2	230	c.230A>C	c.(229-231)gAa>gCa	p.E77A		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	108	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGATGGGAGAAGAATCACAG	0.403										HNSCC(12;0.0054)																																							0								ENSG00000176406						113	112	113					8																	104709367		1956	4135	6091	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.230A>C	8.37:g.104709367A>C	ENSP00000384892:p.Glu77Ala	Somatic	0	45	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	83	13.54	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP							pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.E77A	ENST00000406091.3	37	c.230	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141027	0.77775	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.75589	-0.95;-0.95	5.57	5.57	0.84162	.	.	.	.	.	T	0.78438	0.4283	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.75459	-0.3310	9	0.25106	T	0.35	.	15.7866	0.78310	1.0:0.0:0.0:0.0	.	77	F8WD47	.	A	77;108;77;108	ENSP00000427018:E77A;ENSP00000384892:E77A	ENSP00000332184:E108A	E	+	2	0	RIMS2	104778543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.125000	0.65367	0.454000	0.30748	GAA	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ		0.403	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	protein_coding		A	NM_001100117	-		104709367	1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	C	C	104709367	A	C	104709367	3	2	219	1	0	0	0	0	1	0	0	0	13376	246	9	5	236	5	RIMS2	8	104709367	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09		104709367	41654655	29	17760											
ANXA1	301	genome.wustl.edu	37	chr9	75777685	75777724	+	Splice_Site	DEL	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	-													tttactataaaatctattttTcttttttctcagaactgaag					rs575718527	byFrequency	TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr9:75777685_75777724delTCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	ENST00000376911.1	+	6	1357_1384	c.475_502delTCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	c.(475-504)tcttttttctcagaactgaagagagatctg>tg	p.SFFSELKRDL159fs	ANXA1_ENST00000257497.6_Splice_Site_p.SFFSELKRDL159fs			P04083	ANXA1_HUMAN	annexin A1	159					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	AATCTATTTTTCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACATAACCTCAGA	0.346																																																	0								ENSG00000135046																																			ANXA1	SO:0001630	splice_region_variant	0				HGNC	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.476-1TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA>-	9.37:g.75777685_75777724delTCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA		Somatic					0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.D178fs	ENST00000376911.1	37	c.489_502	CCDS6645.1	9																																																																																			-	pfam_Annexin_repeat,smart_Annexin_repeat		0.346	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	protein_coding	OTTHUMT00000052665.1	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	NM_000700		Frame_Shift_Del	75777724	1	no_errors	ENST00000257497	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.004:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.039:0.985:1.000:1.000:0.988:0.985:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000	-	-	75777724	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	-	75777685	8	5	219	1	0	1	0	1	0	0	1	0	714	1798	62	0		0	ANXA1	9	75777685	Splice_Site	DEL	TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA	TCGA-VT-A80G-01A-11D-A36J-09		75777685	65435746	30	17761	484	2									
ANXA1	301	genome.wustl.edu	37	chr9	75777686	75777725	+	Splice_Site	DEL	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	-													ttactataaaatctatttttCttttttctcagaactgaaga					rs575718527	byFrequency	TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr9:75777686_75777725delCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	ENST00000376911.1	+	6	1357_1385	c.475_503delCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	c.(475-504)cttttttctcagaactgaagagagatctgg>g	p.LFSQN*REIW159fs	ANXA1_ENST00000257497.6_Splice_Site_p.LFSQN*REIW159fs			P04083	ANXA1_HUMAN	annexin A1	159					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ATCTATTTTTCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACATAACCTCAGAC	0.346																																																	0								ENSG00000135046																																			ANXA1	SO:0001630	splice_region_variant	0				HGNC	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.476-1CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT>-	9.37:g.75777686_75777725delCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT		Somatic					0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1					Frame_Shift_Del	DEL							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.D178fs	ENST00000376911.1	37	c.488_503	CCDS6645.1	9																																																																																			-	pfam_Annexin_repeat,smart_Annexin_repeat		0.346	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	protein_coding	OTTHUMT00000052665.1	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	NM_000700		Frame_Shift_Del	75777725	1	no_errors	ENST00000257497	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.004:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.039:0.985:1.000:1.000:0.988:0.985:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000	-	-	75777725	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	-	75777686	8	5	219	1	0	1	0	1	0	0	1	0	714	928	32	0		0	ANXA1	9	75777686	Splice_Site	DEL	CTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACAT	TCGA-VT-A80G-01A-11D-A36J-09	1	75777686	65435745	31	17762	484	2									
FLJ46321	389763	genome.wustl.edu	37	chr9	84607869	84607869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaaacaacttgaaaaTgccctgacagtacgtttgag	10	8	1	4			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr9:84607869T>C	ENST00000344803.2	+	4	2531	c.2484T>C	c.(2482-2484)aaT>aaC	p.N828N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	828					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AACTTGAAAATGCCCTGACAG	0.453																																																	0								ENSG00000214929						78	73	75					9																	84607869		1865	4092	5957	SPATA31D1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2484T>C	9.37:g.84607869T>C		Somatic	0	52	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	85	73	53.80		Silent	SNP							NULL	p.N828	ENST00000344803.2	37	c.2484	CCDS47986.1	9																																																																																			-	NULL		0.453	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	T	NM_001001670	-		84607869	1	no_errors	ENST00000344803	ensembl	human	known	74_37	silent	SNP	0.000	C	C	84607869	T	C	84607869	2	2	219	1	0	0	0	0	0	0	0	1	5934	1461	51	5		5	FLJ46321	9	84607869	Silent	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	8830183	84607869	56605562	32	17763											
C9orf16	79095	genome.wustl.edu	37	chr9	130922685	130922685	+	5'UTR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgggcgcccgagcccgCaatgtcgggccccaacggag	14	17	0	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr9:130922685C>G	ENST00000372994.1	+	0	147				C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16											ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CCCGAGCCCGCAATGTCGGGC	0.731																																																	0								ENSG00000171159						8	10	9					9																	130922685		1686	3102	4788	C9orf16	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.-2C>G	9.37:g.130922685C>G		Somatic	0	23	0		0.652196986458672	63	40.57	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q5SYV8|Q9Y3F7	RNA	SNP							-	NULL	ENST00000372994.1	37	NULL	CCDS6893.1	9																																																																																			-	-		0.731	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf16	protein_coding	OTTHUMT00000054351.1	C	NM_024112	-		130922685	1	no_errors	ENST00000489240	ensembl	human	known	74_37	rna	SNP	0.959	G	G	130922685	C	G	130922685	1	3	219	0	1	0	0	0	0	0	0	0	2468	725	25	4		4	C9orf16	9	130922685	5'UTR	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	46314816	130922685	10290746	33	17764											
BAT2L1	84726	genome.wustl.edu	37	chr9	134343099	134343099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttcaagtatcagaagtccCttcctccccgattccagcgc	7	15	2	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr9:134343099C>A	ENST00000357304.4	+	12	1925	c.1870C>A	c.(1870-1872)Ctt>Att	p.L624I	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.L624I|PRRC2B_ENST00000405995.1_Missense_Mutation_p.L624I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	624	Gln-rich.						poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCAGAAGTCCCTTCCTCCCCG	0.557																																																	0								ENSG00000130723						52	60	57					9																	134343099		2063	4212	6275	PRRC2B	SO:0001583	missense	0			-	HGNC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1870C>A	9.37:g.134343099C>A	ENSP00000349856:p.Leu624Ile	Somatic	0	70	0		0.652196986458672	11	35.29	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	61	34.41	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP							pfam_BAT2_N	p.L624I	ENST00000357304.4	37	c.1870	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490726	0.44249	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.36	3.47	0.39725	.	0.000000	0.37669	U	0.001994	T	0.17023	0.0409	M	0.78049	2.395	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.02877	-1.1099	10	0.51188	T	0.08	-5.9753	7.2626	0.26212	0.3005:0.6207:0.0:0.0788	.	624	Q5JSZ5	PRC2B_HUMAN	I	624;624;624;164	ENSP00000384606:L624I;ENSP00000349856:L624I;ENSP00000398853:L624I;ENSP00000391063:L164I	ENSP00000349856:L624I	L	+	1	0	PRRC2B	133332920	0.624000	0.27102	0.721000	0.30653	0.996000	0.88848	1.080000	0.30779	0.709000	0.31976	0.655000	0.94253	CTT	-	NULL		0.557	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		C		-		134343099	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	SNP	0.445	A	A	134343099	C	A	134343099	3	1	219	1	0	0	0	0	1	0	0	0	1320	681	24	3	1916	3	BAT2L1	9	134343099	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	3420414	134343099	6870332	34	17765											
ZNF488	118738	genome.wustl.edu	37	chr10	48371415	48371415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacctggtctttcacatgCgatcccaccacaaaaaggag	8	14	2	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr10:48371415C>T	ENST00000395702.2	+	2	1110	c.883C>T	c.(883-885)Cga>Tga	p.R295*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.R188*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	295					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTTTCACATGCGATCCCACCA	0.602																																																	0								ENSG00000165388						113	103	106					10																	48371415		2203	4300	6503	ZNF488	SO:0001587	stop_gained	0			-	HGNC	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.883C>T	10.37:g.48371415C>T	ENSP00000379054:p.Arg295*	Somatic	0	26	0		0.652196986458672	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	41	30.51	Q05CE0	Nonsense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R295*	ENST00000395702.2	37	c.883	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.502496	0.97620	.	.	ENSG00000165388	ENST00000395702	.	.	.	5.39	1.16	0.20824	.	0.066944	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2026	0.31434	0.5225:0.4033:0.0:0.0742	.	.	.	.	X	295	.	ENSP00000379054:R295X	R	+	1	2	ZNF488	47991421	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	2.250000	0.43178	0.014000	0.14944	-0.182000	0.12963	CGA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	protein_coding	OTTHUMT00000314632.1	C	NM_153034	-		48371415	1	no_errors	ENST00000395702	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48371415	C	T	48371415	4	4	219	1	0	0	0	0	0	1	0	0	17947	760	27	1	885	1	ZNF488	10	48371415	Nonsense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		48371415	87163332	35	17766											
OR56B1	387748	genome.wustl.edu	37	chr11	5757842	5757842	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgggcattcacagctgGcaacactggctatctctgcc	9	15	2	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr11:5757842G>C	ENST00000317121.3	+	1	162	c.96G>C	c.(94-96)tgG>tgC	p.W32C	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTCACAGCTGGCAACACTGGC	0.488																																																	0								ENSG00000181023						139	128	131					11																	5757842		2201	4297	6498	OR56B1	SO:0001583	missense	0			-	HGNC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.96G>C	11.37:g.5757842G>C	ENSP00000322939:p.Trp32Cys	Somatic	0	31	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	29.17	B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.W32C	ENST00000317121.3	37	c.96	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300689	0.40694	.	.	ENSG00000181023	ENST00000317121	T	0.02944	4.1	5.91	5.91	0.95273	.	0.000000	0.42172	U	0.000746	T	0.18130	0.0435	M	0.86028	2.79	0.53688	D	0.999979	D	0.89917	1.0	D	0.72338	0.977	T	0.00068	-1.2139	10	0.44086	T	0.13	-5.7139	17.7874	0.88542	0.0:0.0:1.0:0.0	.	32	Q8NGI3	O56B1_HUMAN	C	32	ENSP00000322939:W32C	ENSP00000322939:W32C	W	+	3	0	OR56B1	5714418	0.780000	0.28664	1.000000	0.80357	0.339000	0.28857	0.905000	0.28504	2.801000	0.96364	0.655000	0.94253	TGG	-	NULL		0.488	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	protein_coding	OTTHUMT00000143354.1	G	NM_001005180	-		5757842	1	no_errors	ENST00000317121	ensembl	human	known	74_37	missense	SNP	1.000	C	C	5757842	G	C	5757842	3	2	219	1	0	0	0	0	1	0	0	0	11139	1212	42	4	98	4	OR56B1	11	5757842	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		5757842	129248674	36	17767											
VWCE	220001	genome.wustl.edu	37	chr11	61058764	61058764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggccccttgctctccatcCtggcaggagcagacattggg	13	13	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr11:61058764C>G	ENST00000335613.5	-	3	653	c.267G>C	c.(265-267)caG>caC	p.Q89H		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	89	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					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						GCTCTCCATCCTGGCAGGAGC	0.597																																																	0								ENSG00000167992						41	40	40					11																	61058764		2203	4299	6502	VWCE	SO:0001583	missense	0			-	HGNC	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.267G>C	11.37:g.61058764C>G	ENSP00000334186:p.Gln89His	Somatic	0	39	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP							pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.Q89H	ENST00000335613.5	37	c.267	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654350	0.47467	.	.	ENSG00000167992	ENST00000335613	T	0.69040	-0.37	5.16	2.09	0.27110	Epidermal growth factor-like (1);	0.155917	0.30437	N	0.009626	T	0.33000	0.0848	N	0.04297	-0.235	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.03840	-1.0999	10	0.12430	T	0.62	.	2.0636	0.03597	0.1409:0.4994:0.1368:0.2228	.	89	Q96DN2	VWCE_HUMAN	H	89	ENSP00000334186:Q89H	ENSP00000301770:Q89H	Q	-	3	2	VWCE	60815340	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.647000	0.24812	0.557000	0.29117	0.561000	0.74099	CAG	-	smart_EG-like_dom		0.597	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	protein_coding	OTTHUMT00000398811.1	C	NM_152718	-		61058764	-1	no_errors	ENST00000335613	ensembl	human	known	74_37	missense	SNP	0.998	G	G	61058764	C	G	61058764	3	3	219	1	0	0	0	0	1	0	0	0	17252	680	24	4	2672	4	VWCE	11	61058764	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	55300922	61058764	73947752	37	17768											
DSCAML1	57453	genome.wustl.edu	37	chr11	117351966	117351966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgaagaacacagagtccCcacggtcagcgggcttgagc	13	12	1	4			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr11:117351966C>A	ENST00000321322.6	-	13	2760	c.2759G>T	c.(2758-2760)gGg>gTg	p.G920V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G650V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	860	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CACAGAGTCCCCACGGTCAGC	0.587																																																	0								ENSG00000177103						88	78	81					11																	117351966		2201	4296	6497	DSCAML1	SO:0001583	missense	0			-	HGNC		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.2759G>T	11.37:g.117351966C>A	ENSP00000315465:p.Gly920Val	Somatic	0	42	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G920V	ENST00000321322.6	37	c.2759	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665667	0.67700	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.39997	1.05;1.05	4.52	4.52	0.55395	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54255	0.1847	L	0.47190	1.495	0.80722	D	1	D	0.53619	0.961	P	0.60068	0.868	T	0.54931	-0.8219	9	0.49607	T	0.09	.	16.2307	0.82341	0.0:1.0:0.0:0.0	.	860	Q8TD84	DSCL1_HUMAN	V	650;920;627	ENSP00000434335:G650V;ENSP00000315465:G920V	ENSP00000315465:G920V	G	-	2	0	DSCAML1	116857176	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.955000	0.29188	2.329000	0.79093	0.485000	0.47835	GGG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	C	NM_020693	-		117351966	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	SNP	1.000	A	A	117351966	C	A	117351966	3	1	219	1	0	0	0	0	1	0	0	0	4771	623	22	3	3666	3	DSCAML1	11	117351966	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	56293202	117351966	17654550	38	17769											
MDM1	56890	genome.wustl.edu	37	chr12	68707424	68707424	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacggtgtttgccgattacCaacagctggagtagtgagat	13	8	0	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr12:68707424C>A	ENST00000303145.7	-	10	1695	c.1609G>T	c.(1609-1611)Ggt>Tgt	p.G537C	MDM1_ENST00000540418.1_Splice_Site_p.G257C|MDM1_ENST00000411698.2_Splice_Site_p.G502C	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	537					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGCCGATTACCAACAGCTGGA	0.428																																																	0								ENSG00000111554						108	106	107					12																	68707424		2203	4300	6503	MDM1	SO:0001630	splice_region_variant	0			-	HGNC	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1609+1G>T	12.37:g.68707424C>A		Somatic	0	44	0		0.652196986458672	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	34	59.04	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP							NULL	p.G537C	ENST00000303145.7	37	c.1609	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038576	0.75617	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.31247	1.5;1.5;1.5	4.98	4.98	0.66077	.	0.053455	0.85682	D	0.000000	T	0.57548	0.2061	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58601	-0.7608	9	.	.	.	-14.5683	18.6391	0.91389	0.0:1.0:0.0:0.0	.	502;537	E7EPQ3;Q8TC05	.;MDM1_HUMAN	C	257;537;502	ENSP00000443815:G257C;ENSP00000302537:G537C;ENSP00000391006:G502C	.	G	-	1	0	MDM1	66993691	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.764000	0.68826	2.481000	0.83766	0.484000	0.47621	GGT	-	NULL		0.428	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	protein_coding	OTTHUMT00000402402.1	C	NM_020128	-	Missense_Mutation	68707424	-1	no_errors	ENST00000303145	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68707424	C	A	68707424	5	1	219	1	0	0	0	0	0	0	1	0	9414	608	21	3	555	3	MDM1	12	68707424	Splice_Site	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		68707424	65144471	39	17770											
TMEM132B	114795	genome.wustl.edu	37	chr12	126128671	126128671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgggaaggaaatgaagaGcaaagtggacacgattgtga	15	3	0	3			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr12:126128671G>T	ENST00000299308.3	+	6	1480	c.1472G>T	c.(1471-1473)aGc>aTc	p.S491I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S3I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	491						integral component of membrane (GO:0016021)		p.S491N(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAATGAAGAGCAAAGTGGAC	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000139364						103	101	102					12																	126128671		2005	4169	6174	TMEM132B	SO:0001583	missense	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1472G>T	12.37:g.126128671G>T	ENSP00000299308:p.Ser491Ile	Somatic	0	84	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	87	11.11	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP							NULL	p.S491I	ENST00000299308.3	37	c.1472	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657400	0.67586	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.43294	0.95;0.95	5.52	5.52	0.82312	.	0.060742	0.64402	D	0.000002	T	0.54240	0.1846	L	0.43923	1.385	0.58432	D	0.999995	D	0.56035	0.974	P	0.56700	0.804	T	0.55897	-0.8068	10	0.87932	D	0	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	491	Q14DG7	T132B_HUMAN	I	491;3	ENSP00000299308:S491I;ENSP00000440436:S3I	ENSP00000299308:S491I	S	+	2	0	TMEM132B	124694624	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	9.449000	0.97603	2.578000	0.87016	0.655000	0.94253	AGC	-	NULL		0.493	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	G	NM_052907	-		126128671	1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126128671	G	T	126128671	3	4	219	1	0	0	0	0	1	0	0	0	16053	971	34	3	1494	3	TMEM132B	12	126128671	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	57421247	126128671	7723224	40	17771											
FLT1	2321	genome.wustl.edu	37	chr13	28877485	28877485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacagccccgactccttaCttttactggttactctcaag	6	14	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr13:28877485C>A	ENST00000282397.4	-	30	4087	c.3836G>T	c.(3835-3837)aGt>aTt	p.S1279I	FLT1_ENST00000540678.1_Missense_Mutation_p.S497I|FLT1_ENST00000543394.1_Missense_Mutation_p.S302I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1279					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)	CGACTCCTTACTTTTACTGGT	0.438																																																	0								ENSG00000102755						49	48	48					13																	28877485		2203	4300	6503	FLT1	SO:0001583	missense	0			-	HGNC	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.3836G>T	13.37:g.28877485C>A	ENSP00000282397:p.Ser1279Ile	Somatic	0	50	0		0.652196986458672	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	34	40.35	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.S1279I	ENST00000282397.4	37	c.3836	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073482	0.36566	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;D;T	0.81996	-1.23;-1.56;-1.46	5.06	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.87072	0.2160	10	0.72032	D	0.01	.	10.8771	0.46917	0.0:0.9124:0.0:0.0876	.	1279	P17948	VGFR1_HUMAN	I	1279;302;497	ENSP00000282397:S1279I;ENSP00000437841:S302I;ENSP00000443311:S497I	ENSP00000282397:S1279I	S	-	2	0	FLT1	27775485	1.000000	0.71417	0.382000	0.26119	0.122000	0.20287	5.774000	0.68906	1.133000	0.42147	-0.259000	0.10710	AGT	-	NULL		0.438	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	protein_coding	OTTHUMT00000044322.1	C		-		28877485	-1	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	SNP	0.996	A	A	28877485	C	A	28877485	3	1	219	1	0	0	0	0	1	0	0	0	5943	565	20	3	184	3	FLT1	13	28877485	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		28877485	86292393	41	17772											
TMCO3	55002	genome.wustl.edu	37	chr13	114150047	114150047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagccggcagtgggtcCgggacagctgcaggaagctc	17	11	0	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr13:114150047C>T	ENST00000434316.2	+	2	510	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	TMCO3_ENST00000375391.1_Missense_Mutation_p.R51W|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	51						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)			GCAGTGGGTCCGGGACAGCTG	0.617																																																	0								ENSG00000150403						34	35	35					13																	114150047		2203	4300	6503	TMCO3	SO:0001583	missense	0			-	HGNC	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.151C>T	13.37:g.114150047C>T	ENSP00000389399:p.Arg51Trp	Somatic	0	53	0		0.652196986458672	2	95.45	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	5	87.18	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP							pfam_Cation/H_exchanger	p.R51W	ENST00000434316.2	37	c.151	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	C	7.965	0.747719	0.15710	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.30981	1.51	5.46	3.67	0.42095	.	0.465345	0.23256	N	0.050188	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	P;P	0.46457	0.807;0.878	B;B	0.37650	0.255;0.112	T	0.09975	-1.0650	10	0.54805	T	0.06	-13.9298	3.954	0.09382	0.1206:0.508:0.2342:0.1373	.	51;51	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	W	51	ENSP00000389399:R51W	ENSP00000364540:R51W	R	+	1	2	TMCO3	113198048	0.004000	0.15560	0.011000	0.14972	0.311000	0.27955	0.047000	0.14056	0.635000	0.30488	0.555000	0.69702	CGG	-	NULL		0.617	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	protein_coding	OTTHUMT00000045931.3	C	NM_017905	-		114150047	1	no_errors	ENST00000434316	ensembl	human	known	74_37	missense	SNP	0.000	T	T	114150047	C	T	114150047	3	4	219	1	0	0	0	0	1	0	0	0	16004	643	23	1	153	1	TMCO3	13	114150047	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	85272562	114150047	1019831	42	17773											
FBN1	2200	genome.wustl.edu	37	chr15	48826355	48826355	+	Missense_Mutation	SNP	A	A	T													agacccaacagtattaatgcAatttcctccctgacagagcc							TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr15:48826355A>T	ENST00000316623.5	-	8	1239	c.784T>A	c.(784-786)Tgc>Agc	p.C262S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	262	EGF-like 4; 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)		GTATTAATGCAATTTCCTCCC	0.398																																																	0								ENSG00000166147						220	232	228					15																	48826355		2197	4296	6493	FBN1	SO:0001583	missense	0			-	HGNC	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.784T>A	15.37:g.48826355A>T	ENSP00000325527:p.Cys262Ser	Somatic	0	54	0		0.652196986458672	20	23.08	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	98	10.91	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C262S	ENST00000316623.5	37	c.784	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427538	0.83667	.	.	ENSG00000166147	ENST00000316623	D	0.99429	-5.89	5.51	4.35	0.52113	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.99090	4.425	0.80722	D	1	P	0.37663	0.604	B	0.32928	0.155	D	0.97626	1.0139	10	0.87932	D	0	.	12.7525	0.57316	0.8627:0.1373:0.0:0.0	.	262	P35555	FBN1_HUMAN	S	262	ENSP00000325527:C262S	ENSP00000325527:C262S	C	-	1	0	FBN1	46613647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	0.996000	0.38943	0.533000	0.62120	TGC	-	pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.398	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	A		-		48826355	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48826355	A	T	48826355	3	4	219	1	0	0	0	0	1	0	0	0	5704	130	5	5	8067	5	FBN1	15	48826355	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09		48826355	53705037	43	17774	485	2									
FBN1	2200	genome.wustl.edu	37	chr15	48826356	48826356	+	Missense_Mutation	SNP	A	A	T													gacccaacagtattaatgcaAtttcctccctgacagagccc					rs113721547	byFrequency	TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr15:48826356A>T	ENST00000316623.5	-	8	1238	c.783T>A	c.(781-783)aaT>aaA	p.N261K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	261	EGF-like 4; 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)		TATTAATGCAATTTCCTCCCT	0.398																																																	0								ENSG00000166147						219	231	227					15																	48826356		2197	4296	6493	FBN1	SO:0001583	missense	0			-	HGNC	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.783T>A	15.37:g.48826356A>T	ENSP00000325527:p.Asn261Lys	Somatic	0	54	0		0.652196986458672	20	23.08	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	97	11.01	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.N261K	ENST00000316623.5	37	c.783	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205546	0.39003	.	.	ENSG00000166147	ENST00000316623	D	0.91464	-2.85	5.51	4.31	0.51392	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.085006	0.85682	D	0.000000	T	0.77928	0.4204	N	0.04820	-0.15	0.80722	D	1	B	0.17268	0.021	B	0.15052	0.012	T	0.72411	-0.4302	10	0.15499	T	0.54	.	11.6942	0.51534	0.8677:0.0:0.0:0.1323	.	261	P35555	FBN1_HUMAN	K	261	ENSP00000325527:N261K	ENSP00000325527:N261K	N	-	3	2	FBN1	46613648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.176000	0.50863	2.225000	0.72522	0.533000	0.62120	AAT	-	pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.398	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	A		-		48826356	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48826356	A	T	48826356	3	4	219	1	0	0	0	0	1	0	0	0	5704	98	4	5	8068	5	FBN1	15	48826356	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	1	48826356	53705036	44	17775	485	2									
SEC14L5	9717	genome.wustl.edu	37	chr16	5047002	5047002	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctggcaaccccctgccctGctggaggagttctatgcagg	12	14	1	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr16:5047002G>C	ENST00000251170.7	+	8	1107	c.927G>C	c.(925-927)ctG>ctC	p.L309L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	309	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCCTGCCCTGCTGGAGGAGT	0.592																																																	0								ENSG00000103184						28	28	28					16																	5047002		1921	4106	6027	SEC14L5	SO:0001819	synonymous_variant	0			-	HGNC	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.927G>C	16.37:g.5047002G>C		Somatic	0	39	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	2	92.00		Silent	SNP							pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.L309	ENST00000251170.7	37	c.927	CCDS45403.1	16																																																																																			-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.592	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	protein_coding	OTTHUMT00000434379.1	G		-		5047002	1	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	SNP	0.690	C	C	5047002	G	C	5047002	2	2	219	1	0	0	0	0	0	0	0	1	13993	1306	46	4		4	SEC14L5	16	5047002	Silent	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		5047002	85307751	45	17776											
MLKL	197259	genome.wustl.edu	37	chr16	74708974	74708974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttcacagccaccagcTtgcggatcttctcagaatta	8	14	3	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr16:74708974T>G	ENST00000308807.7	-	10	1728	c.1265A>C	c.(1264-1266)aAg>aCg	p.K422T	MLKL_ENST00000306247.7_Missense_Mutation_p.K214T	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.K422M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						AGCCACCAGCTTGCGGATCTT	0.542																																																	1	Substitution - Missense(1)	liver(1)						ENSG00000168404						44	47	46					16																	74708974		2198	4300	6498	MLKL	SO:0001583	missense	0			-	HGNC	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1265A>C	16.37:g.74708974T>G	ENSP00000308351:p.Lys422Thr	Somatic	0	24	0		0.652196986458672	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29		Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K422T	ENST00000308807.7	37	c.1265	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122473	0.37436	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	D;T	0.83250	-1.7;2.67	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.781494	0.12025	N	0.506486	T	0.76169	0.3950	L	0.33245	0.995	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.18263	0.021;0.01	T	0.65800	-0.6080	10	0.48119	T	0.1	-5.1879	11.5735	0.50848	0.0:0.0:0.0:1.0	.	214;422	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	T	422;214	ENSP00000308351:K422T;ENSP00000303118:K214T	ENSP00000303118:K214T	K	-	2	0	MLKL	73266475	0.094000	0.21725	0.024000	0.17045	0.003000	0.03518	1.510000	0.35790	2.170000	0.68504	0.408000	0.27601	AAG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	protein_coding	OTTHUMT00000436403.3	T	NM_152649	-		74708974	-1	no_errors	ENST00000308807	ensembl	human	known	74_37	missense	SNP	0.154	G	G	74708974	T	G	74708974	3	3	219	1	0	0	0	0	1	0	0	0	9621	1609	56	5	158	5	MLKL	16	74708974	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	69661972	74708974	15645779	46	17777											
TAF1C	9013	genome.wustl.edu	37	chr16	84212906	84212906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctgggtccggcgctTgggccgcctggtctgtctcc	16	14	2	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr16:84212906T>C	ENST00000567759.1	-	14	2433	c.2251A>G	c.(2251-2253)Aag>Gag	p.K751E	TAF1C_ENST00000566732.1_Missense_Mutation_p.K725E|TAF1C_ENST00000378541.4_Missense_Mutation_p.K751E|TAF1C_ENST00000341690.6_Missense_Mutation_p.K657E|TAF1C_ENST00000541676.1_Missense_Mutation_p.K658E|TAF1C_ENST00000570117.1_Missense_Mutation_p.K419E	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	751					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GTCCGGCGCTTGGGCCGCCTG	0.687																																																	0								ENSG00000103168						15	18	17					16																	84212906		2190	4284	6474	TAF1C	SO:0001583	missense	0			-	HGNC	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2251A>G	16.37:g.84212906T>C	ENSP00000455265:p.Lys751Glu	Somatic	0	14	0		0.652196986458672	6	71.43	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP							superfamily_WD40_repeat_dom	p.K751E	ENST00000567759.1	37	c.2251	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822805	0.71028	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02552	4.25;4.25;4.25	5.14	3.97	0.46021	.	0.000000	0.64402	D	0.000004	T	0.11410	0.0278	M	0.70595	2.14	0.28028	N	0.934266	D;D;D;D	0.71674	0.996;0.996;0.998;0.996	D;D;D;D	0.80764	0.99;0.99;0.994;0.987	T	0.01027	-1.1476	10	0.87932	D	0	-29.3976	8.3287	0.32173	0.0:0.0:0.2001:0.7999	.	725;274;751;657	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	E	751;658;657;274	ENSP00000367802:K751E;ENSP00000437900:K658E;ENSP00000345305:K657E	ENSP00000345305:K657E	K	-	1	0	TAF1C	82770407	0.011000	0.17503	1.000000	0.80357	0.885000	0.51271	0.185000	0.16958	1.935000	0.56089	0.459000	0.35465	AAG	-	NULL		0.687	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	protein_coding	OTTHUMT00000433045.2	T	NM_139353	-		84212906	-1	no_errors	ENST00000378541	ensembl	human	known	74_37	missense	SNP	0.996	C	C	84212906	T	C	84212906	3	2	219	1	0	0	0	0	1	0	0	0	15528	1821	63	5	362	5	TAF1C	16	84212906	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	9503932	84212906	6141847	47	17778											
ALOXE3	59344	genome.wustl.edu	37	chr17	8006780	8006780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcctcatggatgatGgagcattgggcatccaggcc	16	10	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr17:8006780G>T	ENST00000448843.2	-	15	2157	c.1817C>A	c.(1816-1818)cCa>cAa	p.P606Q	ALOXE3_ENST00000318227.3_Missense_Mutation_p.P738Q|ALOXE3_ENST00000380149.1_Missense_Mutation_p.P762Q	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	606	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CATGGATGATGGAGCATTGGG	0.577																																																	0								ENSG00000179148						101	84	90					17																	8006780		2203	4300	6503	ALOXE3	SO:0001583	missense	0			-	HGNC	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1817C>A	17.37:g.8006780G>T	ENSP00000400581:p.Pro606Gln	Somatic	0	73	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C	p.P738Q	ENST00000448843.2	37	c.2213	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202546	0.79127	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.97731	-4.51;-4.51;-4.51	5.14	4.17	0.49024	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	H	0.96633	3.855	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.99104	1.0844	10	0.87932	D	0	-14.7647	13.1558	0.59516	0.0786:0.0:0.9214:0.0	.	738;606;606	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	Q	762;738;606	ENSP00000369494:P762Q;ENSP00000314879:P738Q;ENSP00000400581:P606Q	ENSP00000314879:P738Q	P	-	2	0	ALOXE3	7947505	1.000000	0.71417	0.565000	0.28409	0.946000	0.59487	9.267000	0.95665	1.532000	0.49169	0.655000	0.94253	CCA	-	pfam_LipOase_C,superfamily_LipOase_C		0.577	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	protein_coding	OTTHUMT00000441475.1	G		-		8006780	-1	no_errors	ENST00000318227	ensembl	human	known	74_37	missense	SNP	1.000	T	T	8006780	G	T	8006780	3	4	219	1	0	0	0	0	1	0	0	0	542	1348	47	3	326	3	ALOXE3	17	8006780	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		8006780	73188430	48	17779											
CCDC144A	9720	genome.wustl.edu	37	chr17	16623536	16623536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagataaaacatctaatgaAaagaacgaggtattgtaaaa	8	4	1	3			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr17:16623536A>G	ENST00000360524.8	+	7	1816	c.1740A>G	c.(1738-1740)gaA>gaG	p.E580E	CCDC144A_ENST00000456009.1_Silent_p.E300E|CCDC144A_ENST00000443444.2_Silent_p.E580E|RP11-219A15.1_ENST00000448331.3_Silent_p.E580E|CCDC144A_ENST00000399273.1_Silent_p.E580E	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	580																	CATCTAATGAAAAGAACGAGG	0.234																																																	0								ENSG00000170160						16	16	16					17																	16623536		1734	3932	5666	CCDC144A	SO:0001819	synonymous_variant	0			-	HGNC	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1740A>G	17.37:g.16623536A>G		Somatic	0	51	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	123	13.99	O60311|Q6ZU57	Silent	SNP							pfam_DUF3496	p.E580	ENST00000360524.8	37	c.1740	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	4.243	0.044025	0.08196	.	.	ENSG00000170160	ENST00000328495	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	T	0.51449	0.1675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43360	-0.9396	4	.	.	.	.	4.9561	0.14041	1.0:0.0:0.0:0.0	.	.	.	.	R	64	.	.	K	+	2	0	CCDC144A	16564261	0.696000	0.27757	0.853000	0.33588	0.182000	0.23217	2.456000	0.44997	0.893000	0.36288	0.155000	0.16302	AAA	-	NULL		0.234	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	protein_coding	OTTHUMT00000444093.1	A		-		16623536	1	no_errors	ENST00000360524	ensembl	human	known	74_37	silent	SNP	0.957	G	G	16623536	A	G	16623536	2	3	219	1	0	0	0	0	0	0	0	1	2779	11	1	5		5	CCDC144A	17	16623536	Silent	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	8616756	16623536	64571674	49	17780											
MED24	9862	genome.wustl.edu	37	chr17	38178936	38178936	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtccatgaggctgtgCcacttggaggagtcagtgag	19	7	1	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr17:38178936C>T	ENST00000394128.2	-	21	2475	c.2394G>A	c.(2392-2394)tgG>tgA	p.W798*	MED24_ENST00000501516.3_Nonsense_Mutation_p.W817*|MED24_ENST00000356271.3_Nonsense_Mutation_p.W785*|MED24_ENST00000394127.2_Nonsense_Mutation_p.W785*|MED24_ENST00000394126.1_Nonsense_Mutation_p.W823*	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	798					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)					TGAGGCTGTGCCACTTGGAGG	0.617																																																	0								ENSG00000008838						68	63	65					17																	38178936		2203	4300	6503	MED24	SO:0001587	stop_gained	0			-	HGNC	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.2394G>A	17.37:g.38178936C>T	ENSP00000377686:p.Trp798*	Somatic	0	30	0		0.652196986458672	46	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K4S5|B3KMR9|Q14143|Q9NNY5	Nonsense_Mutation	SNP							pfam_Mediator_Med24_N	p.W798*	ENST00000394128.2	37	c.2394	CCDS11359.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.012700|5.012700	0.93346|0.93346	.|.	.|.	ENSG00000008838|ENSG00000008838	ENST00000422942|ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76076|.	0.3937|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75271|.	-0.3376|.	3|.	.|0.42905	.|T	.|0.14	-11.4223|-11.4223	19.1711|19.1711	0.93578|0.93578	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	53|798;798;798;748;785;740;708	.|.	.|ENSP00000348610:W798X	A|W	-|-	1|3	0|0	MED24|MED24	35432462|35432462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.790000|7.790000	0.85794|0.85794	2.525000|2.525000	0.85131|0.85131	0.655000|0.655000	0.94253|0.94253	GCA|TGG	-	pfam_Mediator_Med24_N		0.617	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	protein_coding	OTTHUMT00000257147.2	C	NM_014815	-		38178936	-1	no_errors	ENST00000394128	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	38178936	C	T	38178936	4	4	219	1	0	0	0	0	0	1	0	0	9444	740	26	2	599	2	MED24	17	38178936	Nonsense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	21555400	38178936	43016274	50	17781											
KRT26	353288	genome.wustl.edu	37	chr17	38928025	38928025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtaccagcccttgatcTtctgctccaggtctgcgttg	9	14	4	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr17:38928025T>G	ENST00000335552.4	-	1	389	c.341A>C	c.(340-342)aAg>aCg	p.K114T		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCCCTTGATCTTCTGCTCCAG	0.512																																																	0								ENSG00000186393						121	118	119					17																	38928025		2203	4300	6503	KRT26	SO:0001583	missense	0			-	HGNC	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.341A>C	17.37:g.38928025T>G	ENSP00000334798:p.Lys114Thr	Somatic	0	40	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33		Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K114T	ENST00000335552.4	37	c.341	CCDS11374.1	17	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320541	0.81469	.	.	ENSG00000186393	ENST00000335552	D	0.90788	-2.73	5.72	4.64	0.57946	Filament (1);	0.091635	0.47852	D	0.000212	D	0.96237	0.8773	H	0.94964	3.605	0.41046	D	0.985266	D	0.89917	1.0	D	0.91635	0.999	D	0.96400	0.9296	10	0.87932	D	0	.	11.049	0.47876	0.0:0.0726:0.0:0.9274	.	114	Q7Z3Y9	K1C26_HUMAN	T	114	ENSP00000334798:K114T	ENSP00000334798:K114T	K	-	2	0	KRT26	36181551	0.687000	0.27671	1.000000	0.80357	0.987000	0.75469	2.627000	0.46469	1.094000	0.41399	0.528000	0.53228	AAG	-	pfam_IF		0.512	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT26	protein_coding	OTTHUMT00000257215.1	T	NM_181539	-		38928025	-1	no_errors	ENST00000335552	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38928025	T	G	38928025	3	3	219	1	0	0	0	0	1	0	0	0	8465	1609	56	5	1097	5	KRT26	17	38928025	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	749089	38928025	42267185	51	17782											
ANKRD12	23253	genome.wustl.edu	37	chr18	9256918	9256918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaagattcctgccataCtacagtgacaaccccaaggc	7	13	1	3			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr18:9256918C>T	ENST00000262126.4	+	9	3893	c.3653C>T	c.(3652-3654)aCt>aTt	p.T1218I	ANKRD12_ENST00000383440.2_Missense_Mutation_p.T1195I|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T1195I|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1218						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						TCCTGCCATACTACAGTGACA	0.433																																																	0								ENSG00000101745						67	70	69					18																	9256918		2202	4300	6502	ANKRD12	SO:0001583	missense	0			-	HGNC	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.3653C>T	18.37:g.9256918C>T	ENSP00000262126:p.Thr1218Ile	Somatic	0	45	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T1218I	ENST00000262126.4	37	c.3653	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356377	0.61293	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.76839	-1.04;-1.05	5.42	4.55	0.56014	.	0.053493	0.85682	D	0.000000	T	0.79947	0.4534	M	0.68593	2.085	0.39339	D	0.965541	P;P	0.46220	0.874;0.8	P;B	0.45712	0.491;0.296	D	0.83586	0.0120	10	0.87932	D	0	-11.1357	15.5511	0.76152	0.1393:0.8607:0.0:0.0	.	1195;1218	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	I	1195;1218	ENSP00000372932:T1195I;ENSP00000262126:T1218I	ENSP00000262126:T1218I	T	+	2	0	ANKRD12	9246918	1.000000	0.71417	0.533000	0.28001	0.967000	0.64934	7.235000	0.78143	1.271000	0.44313	0.655000	0.94253	ACT	-	NULL		0.433	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	C	NM_015208	-		9256918	1	no_errors	ENST00000262126	ensembl	human	known	74_37	missense	SNP	0.998	T	T	9256918	C	T	9256918	3	4	219	1	0	0	0	0	1	0	0	0	640	565	20	2	3683	2	ANKRD12	18	9256918	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		9256918	68820330	52	17783											
INO80C	125476	genome.wustl.edu	37	chr18	33048664	33048664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaggaaaactcttcaaTggtgctgaaccgcagtttgc	10	8	2	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr18:33048664T>C	ENST00000334598.7	-	5	606	c.490A>G	c.(490-492)Att>Gtt	p.I164V	INO80C_ENST00000586489.1_Missense_Mutation_p.I109V|INO80C_ENST00000590757.1_Missense_Mutation_p.I67V|INO80C_ENST00000441607.2_Missense_Mutation_p.I200V|INO80C_ENST00000592173.1_Intron|RP11-322E11.5_ENST00000591141.1_lincRNA|RP11-322E11.6_ENST00000589258.1_Intron	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	164					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						AACTCTTCAATGGTGCTGAAC	0.547																																																	0								ENSG00000153391						112	112	112					18																	33048664		2203	4300	6503	INO80C	SO:0001583	missense	0			-	HGNC		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"INO80 complex subunits"	26994	protein-coding gene	gene with protein product	"IES6 homolog (S. cerevisiae)"		"chromosome 18 open reading frame 37"	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.490A>G	18.37:g.33048664T>C	ENSP00000334473:p.Ile164Val	Somatic	0	80	0		0.652196986458672	12	45.45	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	79	37.01	B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP							pfam_YL1_C	p.I200V	ENST00000334598.7	37	c.598	CCDS11914.1	18	.	.	.	.	.	.	.	.	.	.	T	2.869	-0.234308	0.05983	.	.	ENSG00000153391	ENST00000441607;ENST00000334598	.	.	.	5.57	4.41	0.53225	YL1 nuclear, C-terminal (1);	.	.	.	.	T	0.15565	0.0375	N	0.02315	-0.6	0.09310	N	1	B;B	0.18461	0.028;0.0	B;B	0.18263	0.021;0.002	T	0.22836	-1.0205	8	0.25751	T	0.34	.	8.9493	0.35779	0.0:0.0898:0.0:0.9102	.	200;164	E9PCS7;Q6PI98	.;IN80C_HUMAN	V	200;164	.	ENSP00000334473:I164V	I	-	1	0	INO80C	31302662	0.991000	0.36638	0.577000	0.28562	0.973000	0.67179	2.544000	0.45761	0.956000	0.37904	0.455000	0.32223	ATT	-	pfam_YL1_C		0.547	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80C	protein_coding	OTTHUMT00000255768.1	T	NM_194281	-		33048664	-1	no_errors	ENST00000441607	ensembl	human	known	74_37	missense	SNP	0.138	C	C	33048664	T	C	33048664	3	2	219	1	0	0	0	0	1	0	0	0	7750	1464	51	5	92	5	INO80C	18	33048664	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09	23791746	33048664	45028584	53	17784											
CILP2	148113	genome.wustl.edu	37	chr19	19654173	19654173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaggcatggaatgaggCgggtgccgtgcgctcgggca	18	10	0	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr19:19654173C>T	ENST00000291495.5	+	7	1179	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	CILP2_ENST00000586018.1_Missense_Mutation_p.A371V	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	365	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				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						TGGAATGAGGCGGGTGCCGTG	0.657																																																	0								ENSG00000160161						52	54	53					19																	19654173		2203	4300	6503	CILP2	SO:0001583	missense	0			-	HGNC	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.1094C>T	19.37:g.19654173C>T	ENSP00000291495:p.Ala365Val	Somatic	0	60	0		0.652196986458672	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	132	12.58	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A365V	ENST00000291495.5	37	c.1094	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938924	0.52972	.	.	ENSG00000160161	ENST00000291495	T	0.12147	2.71	4.47	3.43	0.39272	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.241710	0.42548	D	0.000690	T	0.11750	0.0286	L	0.43646	1.37	0.29470	N	0.857114	B;B	0.25312	0.123;0.123	B;B	0.24269	0.052;0.04	T	0.09907	-1.0653	10	0.72032	D	0.01	-2.3915	7.2947	0.26387	0.0:0.7954:0.0:0.2046	.	365;365	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	V	365	ENSP00000291495:A365V	ENSP00000291495:A365V	A	+	2	0	CILP2	19515173	0.062000	0.20869	0.030000	0.17652	0.038000	0.13279	0.609000	0.24238	0.880000	0.35969	0.485000	0.47835	GCG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.657	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	C	NM_153221	-		19654173	1	no_errors	ENST00000291495	ensembl	human	known	74_37	missense	SNP	0.700	T	T	19654173	C	T	19654173	3	4	219	1	0	0	0	0	1	0	0	0	3432	768	27	1	1120	1	CILP2	19	19654173	Missense_Mutation	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09		19654173	39474810	54	17785											
CCDC123	84902	genome.wustl.edu	37	chr19	33428567	33428567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggtttctcacataatgGaggtttttcatcctaggaaa	10	6	2	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr19:33428567G>A	ENST00000305768.5	-	7	725	c.637C>T	c.(637-639)Cca>Tca	p.P213S	CEP89_ENST00000590597.2_Missense_Mutation_p.P213S	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	213					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCACATAATGGAGGTTTTTCA	0.373																																																	0								ENSG00000121289						99	108	105					19																	33428567		2203	4300	6503	CEP89	SO:0001583	missense	0			-	HGNC	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.637C>T	19.37:g.33428567G>A	ENSP00000306105:p.Pro213Ser	Somatic	0	110	0		0.652196986458672	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	121	32.78	B9EGA6|Q8N5J8	Missense_Mutation	SNP							NULL	p.P213S	ENST00000305768.5	37	c.637	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	G	2.741	-0.262195	0.05791	.	.	ENSG00000121289	ENST00000305768	T	0.29397	1.57	4.92	0.0682	0.14368	.	1.117230	0.06528	N	0.740958	T	0.22126	0.0533	L	0.50919	1.6	0.09310	N	1	B;B;B	0.33583	0.129;0.035;0.418	B;B;B	0.30855	0.082;0.015;0.121	T	0.20940	-1.0260	10	0.09338	T	0.73	-0.0066	5.0188	0.14350	0.2804:0.151:0.5687:0.0	.	184;213;213	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	S	213	ENSP00000306105:P213S	ENSP00000306105:P213S	P	-	1	0	CEP89	38120407	0.836000	0.29430	0.001000	0.08648	0.252000	0.25951	1.435000	0.34969	0.016000	0.14998	0.643000	0.83706	CCA	-	NULL		0.373	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	protein_coding	OTTHUMT00000451300.2	G	NM_032816	-		33428567	-1	no_errors	ENST00000305768	ensembl	human	known	74_37	missense	SNP	0.008	A	A	33428567	G	A	33428567	3	1	219	1	0	0	0	0	1	0	0	0	2761	1174	41	2	1766	2	CCDC123	19	33428567	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	13774394	33428567	25700416	55	17786											
IGLON5	402665	genome.wustl.edu	37	chr19	51827072	51827072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccgaggtggggctcggCgacgagggcctctacacctg	15	13	2	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr19:51827072C>T	ENST00000270642.8	+	3	315	c.315C>T	c.(313-315)ggC>ggT	p.G105G		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	105	Ig-like C2-type 1.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						TGGGGCTCGGCGACGAGGGCC	0.662																																																	0								ENSG00000142549						41	48	46					19																	51827072		1970	4134	6104	IGLON5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.315C>T	19.37:g.51827072C>T		Somatic	0	60	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	83	10.75		Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G105	ENST00000270642.8	37	c.315	CCDS46158.1	19																																																																																			-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.662	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLON5	protein_coding	OTTHUMT00000335149.1	C	NM_001101372	-		51827072	1	no_errors	ENST00000270642	ensembl	human	known	74_37	silent	SNP	0.653	T	T	51827072	C	T	51827072	2	4	219	1	0	0	0	0	0	0	0	1	7597	755	27	1		1	IGLON5	19	51827072	Silent	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	18398505	51827072	7301911	56	17787											
ZNF615	284370	genome.wustl.edu	37	chr19	52497670	52497670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaactctctgatgatcaAtaaactgagacaacttgagg	9	7	2	5			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr19:52497670A>G	ENST00000602063.1	-	6	1008	c.659T>C	c.(658-660)aTt>aCt	p.I220T	ZNF615_ENST00000376716.5_Missense_Mutation_p.I220T|ZNF615_ENST00000594083.1_Missense_Mutation_p.I231T|ZNF615_ENST00000598071.1_Missense_Mutation_p.I231T|ZNF615_ENST00000391795.3_Missense_Mutation_p.I225T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	220					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTGATGATCAATAAACTGAGA	0.413																																																	0								ENSG00000197619						187	180	182					19																	52497670		2203	4300	6503	ZNF615	SO:0001583	missense	0			-	HGNC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.659T>C	19.37:g.52497670A>G	ENSP00000473089:p.Ile220Thr	Somatic	0	40	0		0.652196986458672	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	54	27.03	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I231T	ENST00000602063.1	37	c.692	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	A	0.937	-0.710749	0.03230	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.27720	1.65;1.65	3.2	-6.4	0.01944	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	N	0.21324	0.655	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	0.35649	-0.9780	9	0.09084	T	0.74	.	5.7578	0.18182	0.149:0.1104:0.5543:0.1864	.	225;227;231;220	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	T	220;230;225;230	ENSP00000365906:I220T;ENSP00000375672:I225T	ENSP00000347019:I230T	I	-	2	0	ZNF615	57189482	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.780000	0.01775	-1.718000	0.01383	-0.256000	0.11100	ATT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	protein_coding	OTTHUMT00000462391.1	A	NM_198480	-		52497670	-1	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	SNP	0.000	G	G	52497670	A	G	52497670	3	3	219	1	0	0	0	0	1	0	0	0	18047	101	4	5	1540	5	ZNF615	19	52497670	Missense_Mutation	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	670598	52497670	6631313	57	17788											
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56701298	56701298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgtagggcttctctccGgagtgggtgcgctggtgaac	15	9	1	1	rs367702594		TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr19:56701298G>A	ENST00000586855.2	-	5	1699	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	ZSCAN5B_ENST00000358992.3_Silent_p.S462S			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	462					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(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTTCTCTCCGGAGTGGGTGC	0.537																																																	0								ENSG00000197213	G		1,4179		0,1,2089	84	85	84		1386	-7.2	0	19		84	0,8482		0,0,4241	no	coding-synonymous	ZSCAN5B	NM_001080456.2		0,1,6330	AA,AG,GG		0.0,0.0239,0.0079		462/496	56701298	1,12661	2090	4241	6331	ZSCAN5B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1386C>T	19.37:g.56701298G>A		Somatic	0	80	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	66	35.92		Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S462	ENST00000586855.2	37	c.1386	CCDS46203.1	19																																																																																			-	pfscan_Znf_C2H2		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	protein_coding	OTTHUMT00000457834.2	G	NM_001080456	-		56701298	-1	no_errors	ENST00000358992	ensembl	human	known	74_37	silent	SNP	0.000	A	A	56701298	G	A	56701298	2	1	219	1	0	0	0	0	0	0	0	1	18246	1103	39	1		1	ZSCAN5B	19	56701298	Silent	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09	4203628	56701298	2427685	58	17789											
ZSCAN4	201516	genome.wustl.edu	37	chr19	58187894	58187894	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacctgactgatgacagcatAaatccacctgccttagtgag	9	11	0	4			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr19:58187894A>T	ENST00000318203.5	+	3	1078	c.381A>T	c.(379-381)atA>atT	p.I127I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	127					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGACAGCATAAATCCACCTG	0.418																																																	0								ENSG00000180532						77	76	76					19																	58187894		2203	4300	6503	ZSCAN4	SO:0001819	synonymous_variant	0			-	HGNC	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.381A>T	19.37:g.58187894A>T		Somatic	0	36	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	25	59.02	Q3MIQ2	Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.I127	ENST00000318203.5	37	c.381	CCDS12958.1	19																																																																																			-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN		0.418	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN4	protein_coding	OTTHUMT00000466812.1	A	NM_152677	-		58187894	1	no_errors	ENST00000318203	ensembl	human	known	74_37	silent	SNP	0.000	T	T	58187894	A	T	58187894	2	4	219	1	0	0	0	0	0	0	0	1	18244	352	13	5		5	ZSCAN4	19	58187894	Silent	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	1486596	58187894	941089	59	17790											
KIF16B	55614	genome.wustl.edu	37	chr20	16360001	16360001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcacttccgtgacatctgtGacactctcatcatgtttttc	7	12	3	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr20:16360001G>A	ENST00000354981.2	-	19	2803	c.2646C>T	c.(2644-2646)gtC>gtT	p.V882V	KIF16B_ENST00000355755.3_Silent_p.V882V|KIF16B_ENST00000378003.2_Silent_p.V108V|KIF16B_ENST00000408042.1_Silent_p.V882V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	882	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGACATCTGTGACACTCTCAT	0.408																																																	0								ENSG00000089177						124	121	122					20																	16360001		2203	4300	6503	KIF16B	SO:0001819	synonymous_variant	0			-	HGNC	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2646C>T	20.37:g.16360001G>A		Somatic	0	35	0		0.652196986458672	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP							pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V882	ENST00000354981.2	37	c.2646	CCDS13122.1	20																																																																																			-	NULL		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	protein_coding	OTTHUMT00000078104.2	G	NM_017683	-		16360001	-1	no_errors	ENST00000408042	ensembl	human	known	74_37	silent	SNP	0.000	A	A	16360001	G	A	16360001	2	1	219	1	0	0	0	0	0	0	0	1	8280	1277	45	2		2	KIF16B	20	16360001	Silent	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		16360001	46665519	60	17791											
IFT27	11020	genome.wustl.edu	37	chr22	37154392	37154392	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacctccaccttctcccggTacagctggtggaactgcttg	9	14	1	0			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr22:37154392T>A	ENST00000433985.2	-	7	944	c.524A>T	c.(523-525)tAc>tTc	p.Y175F	IFT27_ENST00000340630.5_Missense_Mutation_p.Y174F|IFT27_ENST00000453009.2_Missense_Mutation_p.Y134F	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	175					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTTCTCCCGGTACAGCTGGTG	0.493											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100360						108	116	113					22																	37154392		2203	4300	6503	IFT27	SO:0001583	missense	0			-	HGNC	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"Intraflagellar transport homologs", "RAB, member RAS oncogene"	18626	protein-coding gene	gene with protein product		615870	"RAB, member of RAS oncogene family-like 4", "intraflagellar transport 27 homolog (Chlamydomonas)"	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.524A>T	22.37:g.37154392T>A	ENSP00000393541:p.Tyr175Phe	Somatic	0	74	0	868	0.652196986458672	49	15.52	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	126	19.62	O60897	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y175F	ENST00000433985.2	37	c.524	CCDS54523.1	22	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740674	0.69304	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000453009	T;T;T	0.79554	-1.28;-1.28;-1.28	5.4	5.4	0.78164	.	.	.	.	.	D	0.87657	0.6232	M	0.73319	2.225	0.45995	D	0.998807	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.954	D	0.85305	0.1075	9	0.19590	T	0.45	.	14.4038	0.67068	0.0:0.0:0.0:1.0	.	175;174	Q9BW83;Q9BW83-2	IFT27_HUMAN;.	F	174;175;134	ENSP00000343593:Y174F;ENSP00000393541:Y175F;ENSP00000405394:Y134F	ENSP00000343593:Y174F	Y	-	2	0	IFT27	35484338	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	5.315000	0.65810	2.029000	0.59856	0.533000	0.62120	TAC	-	superfamily_P-loop_NTPase		0.493	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT27	protein_coding		T	NM_006860	-		37154392	-1	no_errors	ENST00000433985	ensembl	human	known	74_37	missense	SNP	1.000	A	A	37154392	T	A	37154392	3	1	219	1	0	0	0	0	1	0	0	0	7561	1638	57	5	40	5	IFT27	22	37154392	Missense_Mutation	SNP	T	TCGA-VT-A80G-01A-11D-A36J-09		37154392	14150174	61	17792											
CARD10	29775	genome.wustl.edu	37	chr22	37906308	37906309	+	In_Frame_Ins	INS	-	-	CTCCTT													acaaggtccacattgtctggINSctccttctccttctccttct					rs113275238|rs60611523|rs574761780	byFrequency	TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr22:37906308_37906309insCTCCTT	ENST00000403299.1	-	5	1035_1036	c.819_820insAAGGAG	c.(817-822)gagcca>gagAAGGAGcca	p.272_273insEK	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000251973.5_In_Frame_Ins_p.272_273insEK|CARD10_ENST00000406271.3_5'Flank			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	272					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ACATTGTCTGGctccttctcct	0.634																																																	0								ENSG00000100065																																			CARD10	SO:0001652	inframe_insertion	0				HGNC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.814_819dupAAGGAG	22.37:g.37906309_37906314dupCTCCTT	ENSP00000384570:p.Glu271_Lys272dup	Somatic					0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	In_Frame_Ins	INS							pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.273in_frame_insKE	ENST00000403299.1	37	c.820_819	CCDS13948.1	22																																																																																			-	NULL		0.634	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	protein_coding	OTTHUMT00000318997.1	-	NM_014550			37906309	-1	no_errors	ENST00000251973	ensembl	human	known	74_37	in_frame_ins	INS	0.840:0.939	CTCCTT	CTCCTT	37906309	-	CTCCTT	37906308	7	5	219	1	0	1	1	0	0	0	0	0	2646	1203	42	0	2346	0	CARD10	22	37906308	In_Frame_Ins	INS	-	TCGA-VT-A80G-01A-11D-A36J-09	751916	37906308	13398258	62	17793											
MPPED1	758	genome.wustl.edu	37	chr22	43901469	43901469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaacccgcccatagtcatCgacctccccacaccccggaa	7	19	1	1			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chr22:43901469C>T	ENST00000417669.2	+	7	1398	c.954C>T	c.(952-954)atC>atT	p.I318I	MPPED1_ENST00000414469.2_Silent_p.I212I|MPPED1_ENST00000443721.1_Silent_p.I318I|MPPED1_ENST00000439548.1_Silent_p.I160I|MPPED1_ENST00000542779.1_Silent_p.I318I|MPPED1_ENST00000538182.1_Silent_p.I351I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	318							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCATAGTCATCGACCTCCCCA	0.622																																																	0								ENSG00000186732						117	132	127					22																	43901469		2109	4212	6321	MPPED1	SO:0001819	synonymous_variant	0			-	HGNC	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.954C>T	22.37:g.43901469C>T		Somatic	0	81	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	155	24.02	A8K159|B7Z2S9|Q8N361	Silent	SNP							pfam_PEstase_dom	p.I351	ENST00000417669.2	37	c.1053	CCDS46723.1	22																																																																																			-	NULL		0.622	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	protein_coding	OTTHUMT00000318938.2	C	NM_001044370	-		43901469	1	no_errors	ENST00000538182	ensembl	human	known	74_37	silent	SNP	0.985	T	T	43901469	C	T	43901469	2	4	219	1	0	0	0	0	0	0	0	1	9743	874	31	1		1	MPPED1	22	43901469	Silent	SNP	C	TCGA-VT-A80G-01A-11D-A36J-09	5995161	43901469	7403097	63	17794											
MAGEA4	4103	genome.wustl.edu	37	chrX	151092443	151092443	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caagcacctcgcctgacgcaGagtccttgttccgagaagca	10	14	0	3			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chrX:151092443G>C	ENST00000360243.2	+	3	574	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	MAGEA4_ENST00000393921.1_Missense_Mutation_p.E103Q|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E103Q|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E103Q|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E103Q|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E103Q|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E103Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	103										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGACGCAGAGTCCTTGTT	0.542																																																	0								ENSG00000147381						76	69	72					X																	151092443		2203	4300	6503	MAGEA4	SO:0001583	missense	0			-	HGNC		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.307G>C	X.37:g.151092443G>C	ENSP00000353379:p.Glu103Gln	Somatic	0	21	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	8	82.98	Q14798	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E103Q	ENST00000360243.2	37	c.307	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864238	0.32977	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.02944	4.1;4.56;4.26;4.56;4.28;4.56;4.28;4.56;4.56;4.26;4.26;4.28;4.56;4.56;4.28	2.43	-0.505	0.11993	.	2.973990	0.00982	N	0.003393	T	0.11324	0.0276	M	0.81112	2.525	0.09310	N	1	D	0.65815	0.995	P	0.57720	0.826	T	0.15925	-1.0420	10	0.62326	D	0.03	.	2.9238	0.05778	0.318:0.2367:0.4453:0.0	.	103	P43358	MAGA4_HUMAN	Q	103	ENSP00000387777:E103Q;ENSP00000276344:E103Q;ENSP00000391904:E103Q;ENSP00000377498:E103Q;ENSP00000394149:E103Q;ENSP00000359362:E103Q;ENSP00000402624:E103Q;ENSP00000377497:E103Q;ENSP00000359365:E103Q;ENSP00000394073:E103Q;ENSP00000400900:E103Q;ENSP00000402186:E103Q;ENSP00000359360:E103Q;ENSP00000353379:E103Q;ENSP00000390096:E103Q	ENSP00000276344:E103Q	E	+	1	0	MAGEA4	150843099	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	-0.270000	0.09285	-0.312000	0.09012	GAG	-	NULL		0.542	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	protein_coding	OTTHUMT00000060898.1	G	NM_002362	-		151092443	1	no_errors	ENST00000276344	ensembl	human	known	74_37	missense	SNP	0.000	C	C	151092443	G	C	151092443	3	2	219	1	0	0	0	0	1	0	0	0	9170	943	33	4	309	4	MAGEA4	23	151092443	Missense_Mutation	SNP	G	TCGA-VT-A80G-01A-11D-A36J-09		151092443	4178117	64	17795											
TKTL1	8277	genome.wustl.edu	37	chrX	153537793	153537793	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtacttcgacagggccAggtgaggttcttccccagaa	12	11	1	2			TCGA-VT-A80G-01A-11D-A36J-09	TCGA-VT-A80G-11A-22D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76a70cc5-3cd1-4f21-b3ec-b076e3f30b74	b47de334-7363-417c-bd01-3a1542efabc1	g.chrX:153537793A>T	ENST00000369915.3	+	3	538	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	TKTL1_ENST00000369912.2_Splice_Site_p.S61C|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	117					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)			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)					CGACAGGGCCAGGTGAGGTTC	0.547																																																	0								ENSG00000007350						218	183	195					X																	153537793		2203	4300	6503	TKTL1	SO:0001630	splice_region_variant	0			-	HGNC	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.350+1A>T	X.37:g.153537793A>T		Somatic	0	31	0		0.652196986458672	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	9	68.97	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP							pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.S117C	ENST00000369915.3	37	c.349	CCDS35448.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.43|15.43	2.829948|2.829948	0.50845|0.50845	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000426203|ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912	.|T;T;T	.|0.23950	.|1.88;1.88;1.88	4.5|4.5	4.5|4.5	0.54988|0.54988	.|Transketolase, N-terminal (1);	.|0.140596	.|0.64402	.|D	.|0.000006	T|T	0.63307|0.63307	0.2500|0.2500	H|H	0.96576|0.96576	3.845|3.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.995;0.997	T|T	0.75150|0.75150	-0.3419|-0.3419	5|10	.|0.66056	.|D	.|0.02	-16.5361|-16.5361	12.1167|12.1167	0.53870|0.53870	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|111;117	.|B7Z7I0;P51854	.|.;TKTL1_HUMAN	L|C	99|117;61;117;61	.|ENSP00000358931:S117C;ENSP00000401111:S117C;ENSP00000358928:S61C	.|ENSP00000358928:S61C	Q|S	+|+	2|1	0|0	TKTL1|TKTL1	153190987|153190987	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.204000|0.204000	0.24138|0.24138	6.983000|6.983000	0.76180|0.76180	1.773000|1.773000	0.52216|0.52216	0.486000|0.486000	0.48141|0.48141	CAG|AGC	-	pfam_Transketolase_N,pfam_DH_E1		0.547	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	protein_coding	OTTHUMT00000058923.1	A	NM_012253	-	Missense_Mutation	153537793	1	no_errors	ENST00000369915	ensembl	human	known	74_37	missense	SNP	1.000	T	T	153537793	A	T	153537793	5	4	219	1	0	0	0	0	0	0	1	0	15942	202	7	5	359	5	TKTL1	23	153537793	Splice_Site	SNP	A	TCGA-VT-A80G-01A-11D-A36J-09	2445350	153537793	1732767	65	17796											
MFSD2A	84879	genome.wustl.edu	37	chr1	40432576	40432576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacatcaaacttattactgGcttcctcttcacctccttgg	4	13	3	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:40432576G>A	ENST00000372809.5	+	8	1081	c.938G>A	c.(937-939)gGc>gAc	p.G313D	MFSD2A_ENST00000372811.5_Missense_Mutation_p.G300D|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000420632.2_Missense_Mutation_p.G144D	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	313					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTATTACTGGCTTCCTCTTC	0.572																																																	0								ENSG00000168389						127	117	120					1																	40432576		2203	4300	6503	MFSD2A	SO:0001583	missense	0			-	HGNC	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.938G>A	1.37:g.40432576G>A	ENSP00000361895:p.Gly313Asp	Somatic	0	20	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G313D	ENST00000372809.5	37	c.938	CCDS44118.1	1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228136	0.58777	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.87809	-2.3;-2.3;-2.3	5.64	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);	0.192901	0.56097	D	0.000033	D	0.91791	0.7403	M	0.66939	2.045	0.80722	D	1	D;D;D	0.59767	0.986;0.986;0.968	D;D;D	0.72075	0.969;0.976;0.947	D	0.89837	0.4000	10	0.36615	T	0.2	-4.4204	17.3882	0.87422	0.0:0.4819:0.5181:0.0	.	261;313;300	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	D	300;144;313	ENSP00000361898:G300D;ENSP00000391261:G144D;ENSP00000361895:G313D	ENSP00000361895:G313D	G	+	2	0	MFSD2A	40205163	1.000000	0.71417	0.861000	0.33841	0.602000	0.36980	2.838000	0.48199	0.068000	0.16574	0.563000	0.77884	GGC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.572	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	MFSD2A	protein_coding	OTTHUMT00000025756.1	G	NM_032793	-		40432576	1	no_errors	ENST00000372809	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40432576	G	A	40432576	3	1	220	1	0	0	0	0	1	0	0	0	9532	1203	42	2	968	2	MFSD2A	1	40432576	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		40432576	208818045	1	17797											
TTC22	55001	genome.wustl.edu	37	chr1	55251777	55251777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagaagatttttgccaggCgattcaggatgggaggttgg	16	4	1	2	rs145786276		TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:55251777C>T	ENST00000371276.4	-	5	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	300										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTTTGCCAGGCGATTCAGGAT	0.502																																																	0								ENSG00000006555	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	115	98	104		899,899	3.6	1	1	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC22	NM_001114108.1,NM_017904.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	300/570,300/373	55251777	1,13005	2203	4300	6503	TTC22	SO:0001583	missense	0			-	HGNC	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.899G>A	1.37:g.55251777C>T	ENSP00000360323:p.Arg300His	Somatic	0	58	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q9NWT4	Missense_Mutation	SNP							smart_TPR_repeat	p.R300H	ENST00000371276.4	37	c.899	CCDS44152.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956289	0.73902	0.0	1.16E-4	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T;T	0.73789	-0.78;1.54;0.18	4.53	3.62	0.41486	Tetratricopeptide-like helical (1);	0.067118	0.64402	D	0.000009	T	0.62841	0.2461	L	0.32530	0.975	0.49051	D	0.999745	B;B	0.25007	0.022;0.116	B;B	0.17098	0.005;0.017	T	0.62996	-0.6735	10	0.72032	D	0.01	-25.7824	11.816	0.52211	0.0:0.9131:0.0:0.0869	.	300;300	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	H	300;300;81	ENSP00000360323:R300H;ENSP00000360321:R300H;ENSP00000390300:R81H	ENSP00000360321:R300H	R	-	2	0	TTC22	55024365	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.959000	0.49153	1.126000	0.42016	0.561000	0.74099	CGC	-	smart_TPR_repeat		0.502	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	protein_coding	OTTHUMT00000027438.1	C	NM_017904	rs145786276		55251777	-1	no_errors	ENST00000371276	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55251777	C	T	55251777	3	4	220	1	0	0	0	0	1	0	0	0	16696	768	27	1	925	1	TTC22	1	55251777	Missense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	14819201	55251777	193998844	2	17798											
ZZZ3	26009	genome.wustl.edu	37	chr1	78098138	78098138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtttcagaaaagggccctGtagctggctcagtagtcagc	13	9	3	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:78098138G>T	ENST00000370801.3	-	5	1377	c.902C>A	c.(901-903)aCa>aAa	p.T301K	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	301					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AAAGGGCCCTGTAGCTGGCTC	0.463																																																	0								ENSG00000036549						106	102	103					1																	78098138		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.902C>A	1.37:g.78098138G>T	ENSP00000359837:p.Thr301Lys	Somatic	0	39	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP							pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.T301K	ENST00000370801.3	37	c.902	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278885	0.05642	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.49	2.44	0.29823	.	1.115670	0.06530	N	0.741189	T	0.27419	0.0673	L	0.36672	1.1	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.18493	-1.0335	8	.	.	.	.	9.4823	0.38908	0.0669:0.0:0.6775:0.2556	.	301;301;301	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	301	.	.	T	-	2	0	ZZZ3	77870726	0.961000	0.32948	0.220000	0.23810	0.037000	0.13140	2.593000	0.46180	0.312000	0.23038	-0.157000	0.13467	ACA	-	NULL		0.463	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	G	NM_015534	-		78098138	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	0.740	T	T	78098138	G	T	78098138	3	4	220	1	0	0	0	0	1	0	0	0	18263	1377	48	3	1853	3	ZZZ3	1	78098138	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	22846361	78098138	171152483	3	17799											
C1orf103	55791	genome.wustl.edu	37	chr1	111494597	111494597	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagacttaacaggaacaagAgatggcgtaaaaggctgtag	13	5	0	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:111494597A>T	ENST00000369763.4	-	2	1299	c.909T>A	c.(907-909)tcT>tcA	p.S303S	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	303					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						CAGGAACAAGAGATGGCGTAA	0.353																																																	0								ENSG00000121931						90	86	87					1																	111494597		2203	4300	6503	LRIF1	SO:0001819	synonymous_variant	0			-	HGNC	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.909T>A	1.37:g.111494597A>T		Somatic	0	52	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP							NULL	p.S303	ENST00000369763.4	37	c.909	CCDS30800.1	1																																																																																			-	NULL		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	protein_coding	OTTHUMT00000032932.2	A	NM_018372	-		111494597	-1	no_errors	ENST00000369763	ensembl	human	known	74_37	silent	SNP	1.000	T	T	111494597	A	T	111494597	2	4	220	1	0	0	0	0	0	0	0	1	1979	291	11	5		5	C1orf103	1	111494597	Silent	SNP	A	TCGA-VT-AB3D-01A-12D-A417-09	33396459	111494597	137756024	4	17800											
KIAA1614	57710	genome.wustl.edu	37	chr1	180905484	180905484	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgccaacccctcccccttcGaggaaaaccacctcgccagt	7	20	0	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:180905484G>A	ENST00000367588.4	+	5	2494	c.2439G>A	c.(2437-2439)tcG>tcA	p.S813S	KIAA1614_ENST00000367587.1_Silent_p.S434S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	813										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCCCCCTTCGAGGAAAACCA	0.632																																																	0								ENSG00000135835						47	51	50					1																	180905484		1964	4137	6101	KIAA1614	SO:0001819	synonymous_variant	0			-	HGNC	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2439G>A	1.37:g.180905484G>A		Somatic	0	32	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5VZ45|Q9HCF8	Silent	SNP							NULL	p.S813	ENST00000367588.4	37	c.2439	CCDS41442.1	1																																																																																			-	NULL		0.632	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	protein_coding	OTTHUMT00000085151.1	G	XM_046531	-		180905484	1	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	SNP	0.000	A	A	180905484	G	A	180905484	2	1	220	1	0	0	0	0	0	0	0	1	8250	1045	37	1		1	KIAA1614	1	180905484	Silent	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	69410887	180905484	68345137	5	17801											
OBSCN	84033	genome.wustl.edu	37	chr1	228451851	228451851	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgccaaggagcagccagcGagcagggaggtgcaggctga	17	9	0	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:228451851G>A	ENST00000422127.1	+	16	4664	c.4620G>A	c.(4618-4620)gcG>gcA	p.A1540A	OBSCN_ENST00000284548.11_Silent_p.A1540A|OBSCN_ENST00000359599.6_Silent_p.A196A|OBSCN_ENST00000570156.2_Silent_p.A1724A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1540	Ig-like 16.				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)				AGCAGCCAGCGAGCAGGGAGG	0.642																																																	0								ENSG00000154358						51	54	53					1																	228451851		2116	4223	6339	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	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.4620G>A	1.37:g.228451851G>A		Somatic	0	40	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A1540	ENST00000422127.1	37	c.4620	CCDS58065.1	1																																																																																			-	pfscan_Ig-like_dom		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228451851	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.000	A	A	228451851	G	A	228451851	2	1	220	1	0	0	0	0	0	0	0	1	10814	1045	37	1		1	OBSCN	1	228451851	Silent	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	47546367	228451851	20798770	6	17802											
SMYD3	64754	genome.wustl.edu	37	chr1	246490624	246490624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctctttcttatcttcaGtcagtttgttaatatctttt	5	9	6	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr1:246490624G>T	ENST00000388985.4	-	5	409	c.410C>A	c.(409-411)aCt>aAt	p.T137N	SMYD3_ENST00000403792.3_Missense_Mutation_p.T137N|SMYD3_ENST00000541742.1_Missense_Mutation_p.T78N|SMYD3_ENST00000490107.1_Missense_Mutation_p.T78N			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	137	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CTTATCTTCAGTCAGTTTGTT	0.368																																																	0								ENSG00000185420						104	98	100					1																	246490624		2203	4300	6503	SMYD3	SO:0001583	missense	0			-	HGNC	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	15513	protein-coding gene	gene with protein product		608783	"zinc finger, MYND domain containing 1"	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.410C>A	1.37:g.246490624G>T	ENSP00000373637:p.Thr137Asn	Somatic	0	59	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP							pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.T137N	ENST00000388985.4	37	c.410	CCDS53486.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990278	0.35131	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792	T;T;T;T;T	0.81247	2.5;2.5;-1.47;2.5;2.5	5.88	4.95	0.65309	SET domain (2);	0.307905	0.29300	N	0.012548	T	0.66297	0.2775	N	0.25485	0.75	0.36930	D	0.891839	B	0.10296	0.003	B	0.12156	0.007	T	0.62096	-0.6926	10	0.17832	T	0.49	-25.133	9.0621	0.36440	0.0:0.3505:0.5252:0.1243	.	137	Q9H7B4	SMYD3_HUMAN	N	78;78;137;78;137	ENSP00000444184:T78N;ENSP00000419184:T78N;ENSP00000373637:T137N;ENSP00000408122:T78N;ENSP00000385380:T137N	ENSP00000373637:T137N	T	-	2	0	SMYD3	244557247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.441000	0.52893	2.780000	0.95670	0.655000	0.94253	ACT	-	pfam_SET_dom,smart_SET_dom		0.368	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD3	protein_coding		G	NM_022743	-		246490624	-1	no_errors	ENST00000388985	ensembl	human	known	74_37	missense	SNP	1.000	T	T	246490624	G	T	246490624	3	4	220	1	0	0	0	0	1	0	0	0	14831	1029	36	3	908	3	SMYD3	1	246490624	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	18038773	246490624	2759997	7	17803											
CPSF3	51692	genome.wustl.edu	37	chr2	9597080	9597080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatgtggaagaattagAaattcaagaaaaacctgctc	10	5	1	4			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr2:9597080A>G	ENST00000238112.3	+	14	1828	c.1622A>G	c.(1621-1623)gAa>gGa	p.E541G	CPSF3_ENST00000460593.1_Missense_Mutation_p.E504G	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	541					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAAGAATTAGAAATTCAAGAA	0.318																																					Colon(194;1259 2048 3845 5218 19985)												0								ENSG00000119203						47	52	50					2																	9597080		2203	4291	6494	CPSF3	SO:0001583	missense	0			-	HGNC	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1622A>G	2.37:g.9597080A>G	ENSP00000238112:p.Glu541Gly	Somatic	0	110	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	96	8.57	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP							pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.E541G	ENST00000238112.3	37	c.1622	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126985	0.56721	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.45668	0.89;0.89	5.77	5.77	0.91146	-end-processing endonuclease polyadenylation factor C-term (1);Pre-mRNA 3&apos (1);	0.050539	0.85682	D	0.000000	T	0.42381	0.1200	L	0.57536	1.79	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.21109	-1.0255	10	0.32370	T	0.25	-22.4759	16.086	0.81049	1.0:0.0:0.0:0.0	.	492;541	E7ER23;Q9UKF6	.;CPSF3_HUMAN	G	541;263;492;504	ENSP00000238112:E541G;ENSP00000418957:E504G	ENSP00000238112:E541G	E	+	2	0	CPSF3	9514531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.413000	0.90235	2.207000	0.71202	0.528000	0.53228	GAA	-	pfam_CPSF73-100_C		0.318	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	protein_coding	OTTHUMT00000206843.1	A	NM_016207	-		9597080	1	no_errors	ENST00000238112	ensembl	human	known	74_37	missense	SNP	1.000	G	G	9597080	A	G	9597080	3	3	220	1	0	0	0	0	1	0	0	0	3828	246	9	5	1676	5	CPSF3	2	9597080	Missense_Mutation	SNP	A	TCGA-VT-AB3D-01A-12D-A417-09		9597080	233602293	8	17804											
SMYD5	10322	genome.wustl.edu	37	chr2	73452008	73452008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccaggcaaccacagttgtGtgcccaatgcagagacctcc	9	14	0	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr2:73452008G>T	ENST00000389501.4	+	11	1000	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCACAGTTGTGTGCCCAATGC	0.468																																																	0								ENSG00000135632						126	109	115					2																	73452008		2203	4300	6503	SMYD5	SO:0001583	missense	0			-	HGNC	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.955G>T	2.37:g.73452008G>T	ENSP00000374152:p.Val319Leu	Somatic	0	31	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	D6W5H3|Q13558	Missense_Mutation	SNP							pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.V319L	ENST00000389501.4	37	c.955	CCDS33221.2	2	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596176	0.46318	.	.	ENSG00000135632	ENST00000389501	D	0.81499	-1.5	5.06	5.06	0.68205	SET domain (3);	0.207416	0.43260	D	0.000593	T	0.68760	0.3036	L	0.31578	0.945	0.46701	D	0.99916	P	0.34462	0.454	B	0.34138	0.176	T	0.64508	-0.6391	10	0.20046	T	0.44	-19.7046	11.83	0.52290	0.0845:0.0:0.9155:0.0	.	319	Q6GMV2	SMYD5_HUMAN	L	319	ENSP00000374152:V319L	ENSP00000374152:V319L	V	+	1	0	SMYD5	73305516	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.682000	0.54656	2.813000	0.96785	0.655000	0.94253	GTG	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.468	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	protein_coding	OTTHUMT00000318301.1	G	NM_006062	-		73452008	1	no_errors	ENST00000389501	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73452008	G	T	73452008	3	4	220	1	0	0	0	0	1	0	0	0	14833	1377	48	3	997	3	SMYD5	2	73452008	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	63854928	73452008	169747365	9	17805											
SMYD1	150572	genome.wustl.edu	37	chr2	88387480	88387480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagaaccacgtggagcaCtttggggaggaggagcagaa	16	7	0	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr2:88387480C>T	ENST00000419482.2	+	3	499	c.414C>T	c.(412-414)caC>caT	p.H138H	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.H138H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	138	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACGTGGAGCACTTTGGGGAGG	0.642																																																	0								ENSG00000115593						113	90	98					2																	88387480		2203	4300	6503	SMYD1	SO:0001819	synonymous_variant	0			-	HGNC	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.414C>T	2.37:g.88387480C>T		Somatic	0	30	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	14.71	A0AV30|A6NE13	Silent	SNP							pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.H138	ENST00000419482.2	37	c.414	CCDS33240.1	2																																																																																			-	pfam_SET_dom,smart_SET_dom		0.642	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	protein_coding	OTTHUMT00000338229.2	C	XM_097915	-		88387480	1	no_errors	ENST00000419482	ensembl	human	known	74_37	silent	SNP	1.000	T	T	88387480	C	T	88387480	2	4	220	1	0	0	0	0	0	0	0	1	14829	564	20	2		2	SMYD1	2	88387480	Silent	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	14935472	88387480	154811893	10	17806											
ZAK	51776	genome.wustl.edu	37	chr2	174086202	174086204	+	Intron	DEL	GAT	GAT	-													ttgacttgtcagaaggtgacGatgatgatgatgatgacggt					rs150632797|rs376385531		TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr2:174086202_174086204delGAT	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_In_Frame_Del_p.D443del|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_In_Frame_Del_p.D342del|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000338983.3_In_Frame_Del_p.D443del	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AGAAGGtgacgatgatgatgatg	0.404																																																	0								ENSG00000091436		,	2,8,25,4231		0,0,0,2,0,0,8,0,25,2098					,	-0.8	1			55	15,0,45,8194		0,0,0,15,0,0,0,0,45,4067	no	codingComplex,intron	ZAK	NM_133646.2,NM_016653.2	,	0,0,0,17,0,0,8,0,70,6165	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		0.7269,0.8204,0.7588	,	,		17,8,70,12425				MLTK	SO:0001627	intron_variant	0				Uniprot_gn																												ENST00000375213.3:c.987+4224GAT>-	2.37:g.174086211_174086213delGAT		Somatic	0	55	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	In_Frame_Del	DEL							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D441in_frame_del	ENST00000375213.3	37	c.1312_1314	CCDS42777.1	2																																																																																			-	NULL		0.404	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	GAT				174086204	1	no_errors	ENST00000338983	ensembl	human	known	74_37	in_frame_del	DEL	0.975:0.977:0.983	-	-	174086204	GAT	-	174086202	6	5	220	0	1	1	0	1	0	0	0	0	17519	1058	37	0		0	ZAK	2	174086202	Intron	DEL	GAT	TCGA-VT-AB3D-01A-12D-A417-09	85698722	174086202	69113171	11	17807											
SATB2	23314	genome.wustl.edu	37	chr2	200245158	200245158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcctttaaggcattgcGgactgtggcatggttccact	11	10	0	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr2:200245158G>A	ENST00000417098.1	-	5	1342	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000443023.1_Missense_Mutation_p.R117C|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.R176C|SATB2_ENST00000457245.1_Missense_Mutation_p.R176C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	176					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGGCATTGCGGACTGTGGCA	0.488																																					Colon(30;262 767 11040 24421 36230)												0								ENSG00000119042						137	116	123					2																	200245158		2203	4300	6503	SATB2	SO:0001583	missense	0			-	HGNC	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.526C>T	2.37:g.200245158G>A	ENSP00000401112:p.Arg176Cys	Somatic	0	58	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	65	13.33	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP							pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R176C	ENST00000417098.1	37	c.526	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408917	0.83340	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.87279	0.2291	10	0.87932	D	0	-15.7143	19.7691	0.96356	0.0:0.0:1.0:0.0	.	176	Q9UPW6	SATB2_HUMAN	C	176;117;176;176	ENSP00000401112:R176C;ENSP00000388764:R117C;ENSP00000260926:R176C;ENSP00000405420:R176C	ENSP00000260926:R176C	R	-	1	0	SATB2	199953403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.152000	0.64882	2.689000	0.91719	0.462000	0.41574	CGC	-	superfamily_Lambda_DNA-bd_dom		0.488	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	protein_coding	OTTHUMT00000256140.1	G	NM_015265	-		200245158	-1	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	SNP	1.000	A	A	200245158	G	A	200245158	3	1	220	1	0	0	0	0	1	0	0	0	13862	1116	39	1	1703	1	SATB2	2	200245158	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	26158956	200245158	42954215	12	17808											
AGAP1	116987	genome.wustl.edu	37	chr2	236817475	236817475	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccccgagccacgtcagccTgcgcacccatctccagccct	7	22	2	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr2:236817475T>A	ENST00000304032.8	+	11	1829	c.1249T>A	c.(1249-1251)Tgc>Agc	p.C417S	AGAP1_ENST00000336665.5_Missense_Mutation_p.C417S|AGAP1_ENST00000409538.1_Missense_Mutation_p.C682S|AGAP1_ENST00000428334.2_Missense_Mutation_p.C256S	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	417	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACGTCAGCCTGCGCACCCAT	0.498																																																	0								ENSG00000157985						95	84	88					2																	236817475		2203	4300	6503	AGAP1	SO:0001583	missense	0			-	HGNC	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1249T>A	2.37:g.236817475T>A	ENSP00000307634:p.Cys417Ser	Somatic	0	71	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	60	21.05	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.C417S	ENST00000304032.8	37	c.1249	CCDS33408.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.089|3.089	-0.187369|-0.187369	0.06299|0.06299	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025	T;T;T;T|.	0.73789|.	-0.78;-0.78;-0.78;-0.78|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Pleckstrin homology domain (3);|.	0.058733|.	0.64402|.	D|.	0.000002|.	T|T	0.58850|0.58850	0.2151|0.2151	L|L	0.41824|0.41824	1.3|1.3	0.52501|0.52501	D|D	0.999951|0.999951	B;D|.	0.63046|.	0.001;0.992|.	B;D|.	0.77004|.	0.003;0.989|.	T|T	0.56517|0.56517	-0.7966|-0.7966	10|5	0.21014|.	T|.	0.42|.	.|.	14.8075|14.8075	0.69968|0.69968	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	417;417|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	S|Q	417;417;682;256|50	ENSP00000307634:C417S;ENSP00000338378:C417S;ENSP00000386897:C682S;ENSP00000411824:C256S|.	ENSP00000307634:C417S|.	C|L	+|+	1|2	0|0	AGAP1|AGAP1	236482214|236482214	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.611000|0.611000	0.37282|0.37282	4.939000|4.939000	0.63526|0.63526	2.044000|2.044000	0.60594|0.60594	0.533000|0.533000	0.62120|0.62120	TGC|CTG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	T	NM_014914	-		236817475	1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	SNP	1.000	A	A	236817475	T	A	236817475	3	1	220	1	0	0	0	0	1	0	0	0	366	1580	55	5	1291	5	AGAP1	2	236817475	Missense_Mutation	SNP	T	TCGA-VT-AB3D-01A-12D-A417-09	36572317	236817475	6381898	13	17809											
OGG1	4968	genome.wustl.edu	37	chr3	9798456	9798456	+	Frame_Shift_Del	DEL	T	T	-													tcacttctgatttaggaaacTttttccggagcctgtgggga							TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr3:9798456delT	ENST00000344629.7	+	6	1247	c.904delT	c.(904-906)tttfs	p.F303fs	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Frame_Shift_Del_p.F303fs|OGG1_ENST00000339511.5_Frame_Shift_Del_p.F303fs|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Frame_Shift_Del_p.F303fs|OGG1_ENST00000302036.7_Frame_Shift_Del_p.F303fs|OGG1_ENST00000302003.7_Frame_Shift_Del_p.F303fs			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	303					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TTTAGGAAACTTTTTCCGGAG	0.527								Base excision repair (BER), DNA glycosylases																																									0								ENSG00000114026						92	91	91					3																	9798456		2203	4300	6503	OGG1	SO:0001589	frameshift_variant	0				HGNC	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.904delT	3.37:g.9798456delT	ENSP00000342851:p.Phe303fs	Somatic	0	44	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Frame_Shift_Del	DEL							pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.F303fs	ENST00000344629.7	37	c.904	CCDS2581.1	3																																																																																			-	superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg		0.527	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	protein_coding	OTTHUMT00000214223.2	T	NM_016821			9798456	1	no_errors	ENST00000302036	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	9798456	T	-	9798456	7	5	220	1	0	1	0	1	0	0	0	0	10847	1609	56	0	926	0	OGG1	3	9798456	Frame_Shift_Del	DEL	T	TCGA-VT-AB3D-01A-12D-A417-09		9798456	188223974	14	17810											
IMPDH2	54870	genome.wustl.edu	37	chr3	49066224	49066224	+	IGR	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgaagtcgatgtacccaggGagaatgagaaagtcactgcg	14	7	1	3			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr3:49066224G>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Silent_p.L38L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTACCCAGGGAGAATGAGAA	0.507																																																	0								ENSG00000178035						137	108	118					3																	49066224		2203	4300	6503	IMPDH2	SO:0001628	intergenic_variant	0			-	HGNC		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49066224G>T		Somatic	0	31	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q4G0F7|Q7L621|Q8TEA5	Silent	SNP							pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	p.L38	ENST00000395443.2	37	c.114	CCDS2787.1	3																																																																																			-	pfam_IMP_DH_GMPRt,pirsf_IMP_DH,tigrfam_IMP_DH		0.507	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	protein_coding	OTTHUMT00000345669.1	G	NM_017730	-		49066224	-1	no_errors	ENST00000326739	ensembl	human	known	74_37	silent	SNP	0.919	T	T	49066224	G	T	49066224	1	4	220	0	1	0	0	0	0	0	0	0	7729	1161	41	3		3	IMPDH2	3	49066224	IGR	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	39267768	49066224	148956206	15	17811											
RAD54L2	23132	genome.wustl.edu	37	chr3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-													tggagctggaggatgcggaaGaggaggaggaggaggaggag							TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr3:51624506_51624508delGAG	ENST00000409535.2	+	2	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	30						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.586																																																	0								ENSG00000164080																																			RAD54L2	SO:0001651	inframe_deletion	0				HGNC	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.70_72delGAG	3.37:g.51624515_51624517delGAG	ENSP00000386520:p.Glu30del	Somatic	0	28	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q8TB57|Q9BV54	In_Frame_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E27in_frame_del	ENST00000409535.2	37	c.70_72	CCDS33765.2	3																																																																																			-	NULL		0.586	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	protein_coding	OTTHUMT00000328700.2	GAG	NM_015106			51624508	1	no_errors	ENST00000409535	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	51624508	GAG	-	51624506	7	5	220	1	0	1	0	1	0	0	0	0	13002	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-VT-AB3D-01A-12D-A417-09	2558282	51624506	146397924	16	17812											
MUC20	200958	genome.wustl.edu	37	chr3	195453048	195453053	+	In_Frame_Del	DEL	TTAGCA	TTAGCA	-													cagtggagctctggtcacagTtagcaggaatccccttgaag					rs368952817		TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	TTAGCA	TTAGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr3:195453048_195453053delTTAGCA	ENST00000447234.2	+	2	1700_1705	c.1574_1579delTTAGCA	c.(1573-1581)gttagcagg>ggg	p.525_527VSR>G	MUC20_ENST00000445522.2_In_Frame_Del_p.490_492VSR>G|MUC20_ENST00000320736.6_In_Frame_Del_p.354_356VSR>G|MUC20_ENST00000436408.1_In_Frame_Del_p.525_527VSR>G	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	525	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.	VTVSR -> ATG (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTGGTCACAGTTAGCAGGAATCCCCT	0.578																																																	0								ENSG00000176945																																			MUC20	SO:0001651	inframe_deletion	0				HGNC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1574_1579delTTAGCA	3.37:g.195453048_195453053delTTAGCA	ENSP00000414350:p.Val525_Arg527delinsGly	Somatic					0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	In_Frame_Del	DEL							NULL	p.VSR525in_frame_delG	ENST00000447234.2	37	c.1574_1579		3																																																																																			-	NULL		0.578	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	protein_coding	OTTHUMT00000341835.1	TTAGCA	NM_152673			195453053	1	no_errors	ENST00000447234	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-	-	195453053	TTAGCA	-	195453048	7	5	220	1	0	1	0	1	0	0	0	0	9978	1725	60	0	1071	0	MUC20	3	195453048	In_Frame_Del	DEL	TTAGCA	TCGA-VT-AB3D-01A-12D-A417-09	143828542	195453048	2569382	17	17813											
BEND4	389206	genome.wustl.edu	37	chr4	42119561	42119561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagatccatcctgggaacTtttattgaagacttcatcct	6	12	1	3			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr4:42119561T>G	ENST00000502486.1	-	6	2158	c.1579A>C	c.(1579-1581)Agt>Cgt	p.S527R	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	527										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCTGGGAACTTTTATTGAAG	0.517																																																	0								ENSG00000188848						49	49	49					4																	42119561		1856	4102	5958	BEND4	SO:0001583	missense	0			-	HGNC	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1579A>C	4.37:g.42119561T>G	ENSP00000421169:p.Ser527Arg	Somatic	0	45	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP							pfam_BEN_domain	p.S527R	ENST00000502486.1	37	c.1579	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	T	10.65	1.408660	0.25378	.	.	ENSG00000188848	ENST00000411720;ENST00000502486	.	.	.	5.29	2.52	0.30459	.	0.262525	0.37530	N	0.002058	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	B	0.18166	0.026	B	0.20577	0.03	T	0.08554	-1.0716	9	0.46703	T	0.11	-20.1197	5.8851	0.18876	0.0:0.3638:0.0:0.6362	.	527	Q6ZU67	BEND4_HUMAN	R	398;527	.	ENSP00000412495:S398R	S	-	1	0	BEND4	41814318	1.000000	0.71417	0.904000	0.35570	0.164000	0.22412	1.753000	0.38359	0.907000	0.36646	-0.366000	0.07423	AGT	-	NULL		0.517	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	protein_coding	OTTHUMT00000360975.2	T	NM_207406	-		42119561	-1	no_errors	ENST00000502486	ensembl	human	known	74_37	missense	SNP	1.000	G	G	42119561	T	G	42119561	3	3	220	1	0	0	0	0	1	0	0	0	1400	1609	56	5	29	5	BEND4	4	42119561	Missense_Mutation	SNP	T	TCGA-VT-AB3D-01A-12D-A417-09		42119561	149034715	18	17814											
CNGA1	1259	genome.wustl.edu	37	chr4	47945298	47945298	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttattttcgtttttatcatCtgacttgctgaaaaaattaa	4	5	2	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr4:47945298C>A	ENST00000514170.1	-	8	668	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	CNGA1_ENST00000358519.4_Missense_Mutation_p.D117Y|CNGA1_ENST00000420489.2_Missense_Mutation_p.D117Y|CNGA1_ENST00000402813.3_Missense_Mutation_p.D186Y|CNGA1_ENST00000544810.1_Missense_Mutation_p.D117Y			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	117					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTTTATCATCTGACTTGCTG	0.318																																																	0								ENSG00000198515						32	29	30					4																	47945298		1752	3962	5714	CNGA1	SO:0001583	missense	0			-	HGNC	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.349G>T	4.37:g.47945298C>A	ENSP00000426862:p.Asp117Tyr	Somatic	0	77	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	115	15.44	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D186Y	ENST00000514170.1	37	c.556	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102887	0.37145	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722	T;T;T;T;T;T	0.28895	2.95;2.95;2.95;2.95;2.95;1.59	4.82	3.05	0.35203	.	0.647251	0.15825	N	0.242811	T	0.23410	0.0566	L	0.44542	1.39	0.41057	D	0.985347	P;P	0.44090	0.826;0.651	B;B	0.37833	0.259;0.172	T	0.05886	-1.0858	10	0.62326	D	0.03	.	7.8829	0.29633	0.1622:0.7495:0.0:0.0883	.	117;117	Q4W5E3;P29973	.;CNGA1_HUMAN	Y	186;117;117;117;117;117	ENSP00000384264:D186Y;ENSP00000426862:D117Y;ENSP00000443401:D117Y;ENSP00000351320:D117Y;ENSP00000389881:D117Y;ENSP00000423721:D117Y	ENSP00000351320:D117Y	D	-	1	0	CNGA1	47640055	0.013000	0.17824	0.999000	0.59377	0.486000	0.33341	0.934000	0.28910	1.180000	0.42898	-0.122000	0.15005	GAT	-	NULL		0.318	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	protein_coding	OTTHUMT00000372070.2	C	NM_000087	-		47945298	-1	no_errors	ENST00000402813	ensembl	human	known	74_37	missense	SNP	0.891	A	A	47945298	C	A	47945298	3	1	220	1	0	0	0	0	1	0	0	0	3598	913	32	3	1739	3	CNGA1	4	47945298	Missense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	5825737	47945298	143208978	19	17815											
CWH43	80157	genome.wustl.edu	37	chr4	48993490	48993490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatagcctccttccaGgctccaaatgccaaacttcg	8	15	0	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr4:48993490G>T	ENST00000226432.4	+	3	438	c.255G>T	c.(253-255)caG>caT	p.Q85H	CWH43_ENST00000513409.1_Missense_Mutation_p.Q58H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	85					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCTCCTTCCAGGCTCCAAATG	0.468																																																	0								ENSG00000109182						257	232	240					4																	48993490		2203	4300	6503	CWH43	SO:0001583	missense	0			-	HGNC		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.255G>T	4.37:g.48993490G>T	ENSP00000226432:p.Gln85His	Somatic	0	53	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	B2RPD7	Missense_Mutation	SNP							superfamily_Endo/exonuclease/phosphatase	p.Q85H	ENST00000226432.4	37	c.255	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	7.979	0.750763	0.15778	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.44482	1.51;0.92	4.51	3.65	0.41850	.	0.505620	0.18101	N	0.151690	T	0.34106	0.0886	L	0.48362	1.52	0.34702	D	0.726844	B	0.12013	0.005	B	0.11329	0.006	T	0.38650	-0.9651	9	.	.	.	.	10.3914	0.44171	0.0:0.1452:0.7043:0.1505	.	85	Q9H720	PG2IP_HUMAN	H	85;58	ENSP00000226432:Q85H;ENSP00000422802:Q58H	.	Q	+	3	2	CWH43	48688247	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	0.962000	0.29280	1.466000	0.48025	0.563000	0.77884	CAG	-	NULL		0.468	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	protein_coding	OTTHUMT00000250496.2	G	NM_025087	-		48993490	1	no_errors	ENST00000226432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48993490	G	T	48993490	3	4	220	1	0	0	0	0	1	0	0	0	4075	991	35	3	265	3	CWH43	4	48993490	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	1048192	48993490	142160786	20	17816											
INPP4B	8821	genome.wustl.edu	37	chr4	143159017	143159017	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatagttattttctcttacCtgcacaaatcttctttaatg	3	8	3	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr4:143159017C>A	ENST00000513000.1	-	13	1269	c.836G>T	c.(835-837)aGa>aTa	p.R279I	INPP4B_ENST00000508116.1_Splice_Site_p.R279I|INPP4B_ENST00000509777.1_Splice_Site_p.R279I|INPP4B_ENST00000308502.4_Splice_Site_p.R279I|INPP4B_ENST00000262992.4_Splice_Site_p.R279I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	279					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTCTCTTACCTGCACAAATC	0.274																																																	0								ENSG00000109452						33	33	33					4																	143159017		2202	4297	6499	INPP4B	SO:0001630	splice_region_variant	0			-	HGNC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.836+1G>T	4.37:g.143159017C>A		Somatic	0	109	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	111	11.90	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP							superfamily_C2_dom	p.R279I	ENST00000513000.1	37	c.836	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.177452	0.94846	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.39	5.39	0.77823	.	0.047083	0.85682	D	0.000000	T	0.61677	0.2366	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.59936	-0.7360	9	.	.	.	.	19.52	0.95182	0.0:1.0:0.0:0.0	.	150;279	B7Z6T2;O15327	.;INP4B_HUMAN	I	279;279;279;150;279;279;94;94;279;150	ENSP00000425487:R279I;ENSP00000262992:R279I;ENSP00000308441:R279I;ENSP00000423954:R279I;ENSP00000422793:R279I;ENSP00000426207:R94I;ENSP00000427250:R279I;ENSP00000421065:R150I	.	R	-	2	0	INPP4B	143378467	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.251000	0.78297	2.671000	0.90904	0.591000	0.81541	AGA	-	NULL		0.274	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	protein_coding	OTTHUMT00000364587.1	C	NM_003866	-	Missense_Mutation	143159017	-1	no_errors	ENST00000509777	ensembl	human	known	74_37	missense	SNP	1.000	A	A	143159017	C	A	143159017	5	1	220	1	0	0	0	0	0	0	1	0	7755	695	24	3	1998	3	INPP4B	4	143159017	Splice_Site	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	94165527	143159017	47995259	21	17817											
FGB	2244	genome.wustl.edu	37	chr4	155487708	155487708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaaggccaatcagaaAtagtgttgatgagttaaata	10	4	1	3			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr4:155487708A>G	ENST00000302068.4	+	3	437	c.374A>G	c.(373-375)aAt>aGt	p.N125S	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	125					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCAATCAGAAATAGTGTTGAT	0.418																																					NSCLC(106;1133 1613 21870 46110 52656)												0								ENSG00000171564						159	149	152					4																	155487708		2203	4300	6503	FGB	SO:0001583	missense	0			-	HGNC		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.374A>G	4.37:g.155487708A>G	ENSP00000306099:p.Asn125Ser	Somatic	0	58	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.N125S	ENST00000302068.4	37	c.374	CCDS3786.1	4	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.246284	0.01481	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.81659	-1.52	5.27	0.923	0.19413	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.674999	0.15593	N	0.254288	T	0.56108	0.1963	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37865	-0.9687	10	0.13853	T	0.58	.	6.3655	0.21453	0.6481:0.181:0.1709:0.0	.	108;125	B4E1D3;P02675	.;FIBB_HUMAN	S	125;108	ENSP00000306099:N125S	ENSP00000306099:N125S	N	+	2	0	FGB	155707158	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.382000	0.20635	0.055000	0.16094	-1.162000	0.01777	AAT	-	pfam_Fibrinogen_a/b/g_coil_dom		0.418	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	protein_coding	OTTHUMT00000317595.1	A	NM_005141	-		155487708	1	no_errors	ENST00000302068	ensembl	human	known	74_37	missense	SNP	0.009	G	G	155487708	A	G	155487708	3	3	220	1	0	0	0	0	1	0	0	0	5833	101	4	5	384	5	FGB	4	155487708	Missense_Mutation	SNP	A	TCGA-VT-AB3D-01A-12D-A417-09	12328691	155487708	35666568	22	17818											
FAT1	2195	genome.wustl.edu	37	chr4	187554873	187554873	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtggttccatctgtagcctCgactgtgaggttgtagtttg	14	7	1	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr4:187554873C>A	ENST00000441802.2	-	7	4497	c.4288G>T	c.(4288-4290)Gag>Tag	p.E1430*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1430	Cadherin 12. {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						TCTGTAGCCTCGACTGTGAGG	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						265	250	255					4																	187554873		1994	4173	6167	FAT1	SO:0001587	stop_gained	0			-	HGNC	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.4288G>T	4.37:g.187554873C>A	ENSP00000406229:p.Glu1430*	Somatic	0	78	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	67	8.22		Nonsense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E1430*	ENST00000441802.2	37	c.4288	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.292727	0.99542	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.02	5.02	0.67125	.	0.164580	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.9077	0.92469	0.0:1.0:0.0:0.0	.	.	.	.	X	1430	.	ENSP00000260147:E1430X	E	-	1	0	FAT1	187791867	1.000000	0.71417	0.951000	0.38953	0.767000	0.43475	4.418000	0.59828	2.774000	0.95407	0.650000	0.86243	GAG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245	-		187554873	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	nonsense	SNP	0.995	A	A	187554873	C	A	187554873	4	1	220	1	0	0	0	0	0	1	0	0	5691	893	31	3	9562	3	FAT1	4	187554873	Nonsense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	32067165	187554873	3599403	23	17819											
MAST4	375449	genome.wustl.edu	37	chr5	66429429	66429429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgactaccaacctttaCgagggtcatattgagaagga	10	8	1	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr5:66429429C>T	ENST00000403625.2	+	17	2476	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	MAST4_ENST00000403666.1_Silent_p.Y538Y|MAST4_ENST00000404260.3_Silent_p.Y730Y|MAST4_ENST00000405643.1_Silent_p.Y548Y|MAST4_ENST00000261569.7_Silent_p.Y533Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAACCTTTACGAGGGTCATA	0.423																																																	0								ENSG00000069020						164	160	161					5																	66429429		1898	4117	6015	MAST4	SO:0001819	synonymous_variant	0			-	HGNC	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2181C>T	5.37:g.66429429C>T		Somatic	0	62	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	84	14.29	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.Y730	ENST00000403625.2	37	c.2190	CCDS54861.1	5																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.423	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	protein_coding	OTTHUMT00000326324.2	C		-		66429429	1	no_errors	ENST00000404260	ensembl	human	known	74_37	silent	SNP	0.995	T	T	66429429	C	T	66429429	2	4	220	1	0	0	0	0	0	0	0	1	9329	547	19	1		1	MAST4	5	66429429	Silent	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09		66429429	114485831	24	17820											
SNCB	6620	genome.wustl.edu	37	chr5	176048292	176048292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagcagcttcctgggCcacttcctctggctgtgggc	11	14	3	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr5:176048292C>T	ENST00000310112.3	-	6	545	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	SNCB_ENST00000510387.1_Missense_Mutation_p.A99T|SNCB_ENST00000506696.1_Missense_Mutation_p.A99T|SNCB_ENST00000393693.2_Missense_Mutation_p.A99T	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	99					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCTGGGCCACTTCCTCT	0.607																																																	0								ENSG00000074317						54	52	52					5																	176048292		2203	4300	6503	SNCB	SO:0001583	missense	0			-	HGNC	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.295G>A	5.37:g.176048292C>T	ENSP00000308057:p.Ala99Thr	Somatic	0	53	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q6IAX7	Missense_Mutation	SNP							pfam_Synuclein,prints_Synuclein,prints_Synuclein_beta	p.A99T	ENST00000310112.3	37	c.295	CCDS4406.1	5	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164349	0.57476	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.3	4.42	0.53409	.	0.204155	0.41500	D	0.000867	T	0.75679	0.3882	L	0.43152	1.355	0.42447	D	0.99273	P	0.41748	0.761	B	0.37267	0.245	T	0.72766	-0.4194	10	0.16420	T	0.52	-4.6425	15.9379	0.79729	0.0:0.8645:0.1355:0.0	.	99	Q16143	SYUB_HUMAN	T	99	ENSP00000308057:A99T;ENSP00000377296:A99T;ENSP00000424073:A99T;ENSP00000422223:A99T	ENSP00000308057:A99T	A	-	1	0	SNCB	175980898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.003000	0.70701	1.227000	0.43598	0.655000	0.94253	GCC	-	pfam_Synuclein,prints_Synuclein_beta		0.607	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCB	protein_coding	OTTHUMT00000253152.2	C	NM_001001502	-		176048292	-1	no_errors	ENST00000310112	ensembl	human	known	74_37	missense	SNP	1.000	T	T	176048292	C	T	176048292	3	4	220	1	0	0	0	0	1	0	0	0	14850	739	26	2	117	2	SNCB	5	176048292	Missense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	109618863	176048292	4866968	25	17821											
PROP1	5626	genome.wustl.edu	37	chr5	177419969	177419969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagctggaaaaggcgGcaggagacagatgggccaga	17	7	0	4			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr5:177419969G>A	ENST00000308304.2	-	3	730	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	141					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGAAAAGGCGGCAGGAGACAG	0.587																																																	0								ENSG00000175325						154	140	145					5																	177419969		2203	4300	6503	PROP1	SO:0001583	missense	0			-	HGNC	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.422C>T	5.37:g.177419969G>A	ENSP00000311290:p.Ala141Val	Somatic	0	26	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11		Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.A141V	ENST00000308304.2	37	c.422	CCDS4430.1	5	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389319	0.42410	.	.	ENSG00000175325	ENST00000308304	D	0.90004	-2.6	3.75	3.75	0.43078	.	0.175756	0.27668	N	0.018360	T	0.81302	0.4794	L	0.32530	0.975	0.29265	N	0.871076	P	0.47762	0.9	B	0.40602	0.334	T	0.77107	-0.2710	10	0.37606	T	0.19	-21.6578	9.6561	0.39928	0.0:0.2145:0.7855:0.0	.	141	O75360	PROP1_HUMAN	V	141	ENSP00000311290:A141V	ENSP00000311290:A141V	A	-	2	0	PROP1	177352575	0.000000	0.05858	0.796000	0.32109	0.068000	0.16541	0.306000	0.19279	1.830000	0.53286	0.467000	0.42956	GCC	-	NULL		0.587	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROP1	protein_coding	OTTHUMT00000253472.1	G	NM_006261	-		177419969	-1	no_errors	ENST00000308304	ensembl	human	known	74_37	missense	SNP	0.846	A	A	177419969	G	A	177419969	3	1	220	1	0	0	0	0	1	0	0	0	12562	1203	42	2	262	2	PROP1	5	177419969	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	1371677	177419969	3495291	26	17822											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178559313	178559313	+	Splice_Site	DEL	T	T	-													tcaaacatcttgatgtaaccTttttttgatgtggaaagaca							TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr5:178559313delT	ENST00000251582.7	-	15	2311		c.e15-2			NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2						collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGATGTAACCTTTTTTTGATG	0.547																																																	0								ENSG00000087116						87	83	84					5																	178559313		2203	4300	6503	ADAMTS2	SO:0001630	splice_region_variant	0				HGNC	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2210-2A>-	5.37:g.178559313delT		Somatic	0	33	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82		Splice_Site	DEL							-	e15-2	ENST00000251582.7	37	c.2210-2	CCDS4444.1	5																																																																																			-	-		0.547	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	protein_coding	OTTHUMT00000253507.1	T	NM_014244		Intron	178559313	-1	no_errors	ENST00000251582	ensembl	human	known	74_37	splice_site_del	DEL	0.999	-	-	178559313	T	-	178559313	8	5	220	1	0	1	0	1	0	0	1	0	265	1623	56	0	1459	0	ADAMTS2	5	178559313	Splice_Site	DEL	T	TCGA-VT-AB3D-01A-12D-A417-09	1139344	178559313	2355947	27	17823											
BTN2A2	10385	genome.wustl.edu	37	chr6	26390257	26390257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttatgcccagcgcatctcCctggatggtggccctagctg	11	14	1	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr6:26390257C>A	ENST00000356709.4	+	5	860	c.749C>A	c.(748-750)cCc>cAc	p.P250H	BTN2A2_ENST00000482536.1_Missense_Mutation_p.P40H|BTN2A2_ENST00000469230.1_Missense_Mutation_p.P250H|BTN2A2_ENST00000416795.2_Missense_Mutation_p.P250H|BTN2A2_ENST00000432533.2_Missense_Mutation_p.P156H|BTN2A2_ENST00000352867.2_Missense_Mutation_p.P134H	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	250					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AGCGCATCTCCCTGGATGGTG	0.498																																																	0								ENSG00000124508						153	148	150					6																	26390257		2203	4300	6503	BTN2A2	SO:0001583	missense	0			-	HGNC	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.749C>A	6.37:g.26390257C>A	ENSP00000349143:p.Pro250His	Somatic	0	41	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.P250H	ENST00000356709.4	37	c.749	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	.	10.72	1.429529	0.25726	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	3.04	1.08	0.20341	.	0.431469	0.17054	N	0.188814	T	0.15132	0.0365	M	0.86953	2.85	0.09310	N	1	B;B;P;B;B;B	0.42357	0.021;0.015;0.777;0.298;0.198;0.048	B;B;B;B;B;B	0.35278	0.009;0.003;0.199;0.087;0.023;0.062	T	0.16158	-1.0412	10	0.87932	D	0	.	3.7375	0.08517	0.2413:0.614:0.0:0.1447	.	40;156;134;250;134;250	E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;BT2A2_HUMAN	H	250;45;250;134;40;156;45;250;134	ENSP00000417472:P250H;ENSP00000418965:P45H;ENSP00000349143:P250H;ENSP00000337117:P134H;ENSP00000419451:P40H;ENSP00000394241:P156H;ENSP00000417676:P45H;ENSP00000399308:P250H;ENSP00000418176:P134H	ENSP00000337117:P134H	P	+	2	0	BTN2A2	26498236	0.756000	0.28383	0.003000	0.11579	0.253000	0.25986	1.052000	0.30429	0.084000	0.17077	0.467000	0.42956	CCC	-	NULL		0.498	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	protein_coding	OTTHUMT00000040117.1	C		-		26390257	1	no_errors	ENST00000356709	ensembl	human	known	74_37	missense	SNP	0.023	A	A	26390257	C	A	26390257	3	1	220	1	0	0	0	0	1	0	0	0	1563	623	22	3	763	3	BTN2A2	6	26390257	Missense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09		26390257	144724810	28	17824											
CALN1	83698	genome.wustl.edu	37	chr7	71275389	71275389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcattgataatgatgTtctcaatgtccttcatcgtt	5	10	3	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr7:71275389T>C	ENST00000329008.5	-	5	762	c.464A>G	c.(463-465)aAc>aGc	p.N155S	CALN1_ENST00000412588.1_Missense_Mutation_p.N197S|CALN1_ENST00000405452.2_Missense_Mutation_p.N155S|CALN1_ENST00000395276.2_Missense_Mutation_p.N155S|CALN1_ENST00000431984.1_Missense_Mutation_p.N155S|CALN1_ENST00000395275.2_Missense_Mutation_p.N197S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GATAATGATGTTCTCAATGTC	0.488																																																	0								ENSG00000183166						212	171	185					7																	71275389		2203	4300	6503	CALN1	SO:0001583	missense	0			-	HGNC	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.464A>G	7.37:g.71275389T>C	ENSP00000332498:p.Asn155Ser	Somatic	0	67	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	J3KQA7	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N197S	ENST00000329008.5	37	c.590	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863169	0.71949	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	5.1	3.96	0.45880	.	0.043916	0.85682	N	0.000000	T	0.67335	0.2882	L	0.32530	0.975	0.41919	D	0.990508	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.69007	-0.5259	10	0.72032	D	0.01	-19.9429	10.0744	0.42351	0.0:0.0784:0.0:0.9216	.	155;155	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	S	155;197;155;155;197;155	ENSP00000332498:N155S;ENSP00000378690:N197S;ENSP00000378691:N155S;ENSP00000410704:N155S;ENSP00000391882:N197S;ENSP00000384354:N155S	ENSP00000332498:N155S	N	-	2	0	CALN1	70913325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.852000	0.62904	0.985000	0.38656	0.533000	0.62120	AAC	-	NULL		0.488	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	protein_coding	OTTHUMT00000320044.2	T	NM_031468	-		71275389	-1	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71275389	T	C	71275389	3	2	220	1	0	0	0	0	1	0	0	0	2593	1725	60	5	203	5	CALN1	7	71275389	Missense_Mutation	SNP	T	TCGA-VT-AB3D-01A-12D-A417-09		71275389	87863274	29	17825											
ZAN	7455	genome.wustl.edu	37	chr7	100365463	100365463	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctgcagctgaatggcCatcgggtggccctacctgtg	13	13	1	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr7:100365463C>T	ENST00000348028.3	+	0	5035				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGAATGGCCATCGGGTGGC	0.582																																																	0								ENSG00000146839						41	43	42					7																	100365463		2028	4180	6208	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365463C>T		Somatic	0	42	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.H1624Y	ENST00000348028.3	37	c.4870		7	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891816	0.52014	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.57	3.69	0.42338	von Willebrand factor, type D domain (3);	0.853623	0.09842	N	0.748799	T	0.36991	0.0987	N	0.25094	0.71	0.09310	N	1	P;P	0.41450	0.706;0.75	B;B	0.32465	0.09;0.146	T	0.04976	-1.0914	10	0.17832	T	0.49	.	9.1899	0.37193	0.0:0.895:0.0:0.105	.	1624;1624	F5H0T8;Q9Y493	.;ZAN_HUMAN	Y	1624;1624;1624;201	ENSP00000445943:H1624Y;ENSP00000445091:H1624Y;ENSP00000444427:H1624Y;ENSP00000441117:H201Y	ENSP00000423579:H1624Y	H	+	1	0	ZAN	100203399	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.164000	0.16542	1.241000	0.43820	0.655000	0.94253	CAT	-	pfam_VWF_type-D,smart_VWF_type-D		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386	-		100365463	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.007	T	T	100365463	C	T	100365463	1	4	220	0	1	0	0	0	0	0	0	0	17520	594	21	2		2	ZAN	7	100365463	RNA	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	29090074	100365463	58773200	30	17826											
GPR22	2845	genome.wustl.edu	37	chr7	107115000	107115000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgttaatgatatccatttgGattttttcttttttctcttt	4	5	2	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr7:107115000G>T	ENST00000304402.4	+	3	1838	c.495G>T	c.(493-495)tgG>tgT	p.W165C	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	165					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TATCCATTTGGATTTTTTCTT	0.343																																																	0								ENSG00000172209						44	47	46					7																	107115000		2203	4299	6502	GPR22	SO:0001583	missense	0			-	HGNC	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"GPCR / Class A : Orphans"	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.495G>T	7.37:g.107115000G>T	ENSP00000302676:p.Trp165Cys	Somatic	0	32	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	O14554	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.W165C	ENST00000304402.4	37	c.495	CCDS5744.1	7	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164480	0.57476	.	.	ENSG00000172209	ENST00000304402	D	0.88818	-2.43	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94716	0.7896	10	0.72032	D	0.01	-3.0647	19.762	0.96323	0.0:0.0:1.0:0.0	.	165	Q99680	GPR22_HUMAN	C	165	ENSP00000302676:W165C	ENSP00000302676:W165C	W	+	3	0	GPR22	106902236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	TGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.343	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	protein_coding	OTTHUMT00000337598.1	G		-		107115000	1	no_errors	ENST00000304402	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107115000	G	T	107115000	3	4	220	1	0	0	0	0	1	0	0	0	6684	1183	41	3	497	3	GPR22	7	107115000	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	6749537	107115000	52023663	31	17827											
WDR67	93594	genome.wustl.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T													aacaccaagttttcttacagINStttttttttcaccatcggaa					rs570441854		TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																																	0								ENSG00000156787		,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				TBC1D31	SO:0001630	splice_region_variant	0				HGNC	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT		Somatic	0	15	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Ins	INS							pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1886_1885	CCDS6338.1	8																																																																																			-	superfamily_Rab-GTPase-TBC_dom		0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	protein_coding	OTTHUMT00000381721.1	-	NM_145647		Intron	124140521	1	no_errors	ENST00000287380	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	124140521	-	T	124140520	8	5	220	1	0	1	1	0	0	0	1	0	17325	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-VT-AB3D-01A-12D-A417-09		124140520	22223502	32	17828											
SHARPIN	81858	genome.wustl.edu	37	chr8	145154476	145154476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcaacgtgtgcagaggaCgcggcggatgcggcagaggc	20	9	0	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr8:145154476C>T	ENST00000398712.2	-	5	1141	c.705G>A	c.(703-705)gcG>gcA	p.A235A	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	235	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCAGAGGACGCGGCGGATG	0.652																																																	0								ENSG00000179526						44	54	51					8																	145154476		2155	4267	6422	SHARPIN	SO:0001819	synonymous_variant	0			-	HGNC	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.705G>A	8.37:g.145154476C>T		Somatic	0	32	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.50	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP							pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.A235	ENST00000398712.2	37	c.705	CCDS43777.1	8																																																																																			-	NULL		0.652	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	protein_coding	OTTHUMT00000382901.1	C	NM_030974	-		145154476	-1	no_errors	ENST00000398712	ensembl	human	known	74_37	silent	SNP	0.001	T	T	145154476	C	T	145154476	2	4	220	1	0	0	0	0	0	0	0	1	14275	523	19	1		1	SHARPIN	8	145154476	Silent	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	21013956	145154476	1209546	33	17829											
VPS13A	23230	genome.wustl.edu	37	chr9	79933265	79933265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatttatgggaaaagaagGatacaaagactttaaaaatg	8	4	0	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr9:79933265G>A	ENST00000360280.3	+	41	5331	c.5071G>A	c.(5071-5073)Gat>Aat	p.D1691N	VPS13A_ENST00000357409.5_Missense_Mutation_p.D1691N|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1691N|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1652N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1691					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAAAAGAAGGATACAAAGAC	0.343																																																	0								ENSG00000197969						87	92	91					9																	79933265		2203	4300	6503	VPS13A	SO:0001583	missense	0			-	HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5071G>A	9.37:g.79933265G>A	ENSP00000353422:p.Asp1691Asn	Somatic	0	103	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	96	21.77	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.D1691N	ENST00000360280.3	37	c.5071	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979947	0.18812	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.16	5.16	0.70880	.	0.126264	0.56097	D	0.000023	T	0.13756	0.0333	L	0.39633	1.23	0.80722	D	1	B;B;B;B	0.23735	0.005;0.09;0.074;0.074	B;B;B;B	0.31245	0.021;0.059;0.126;0.126	T	0.08310	-1.0728	10	0.25751	T	0.34	.	12.3984	0.55399	0.0779:0.0:0.9221:0.0	.	1652;1691;1691;1691	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	1691;1652;1691;1691	ENSP00000365821:D1691N;ENSP00000365823:D1652N;ENSP00000353422:D1691N;ENSP00000349985:D1691N	ENSP00000349985:D1691N	D	+	1	0	VPS13A	79123085	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.254000	0.58798	2.574000	0.86865	0.305000	0.20034	GAT	-	NULL		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	G	NM_015186	-		79933265	1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79933265	G	A	79933265	3	1	220	1	0	0	0	0	1	0	0	0	17196	1174	41	2	5233	2	VPS13A	9	79933265	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		79933265	61280166	34	17830											
MAMDC4	158056	genome.wustl.edu	37	chr9	139752912	139752912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctggcccggcctggGcggatacagctgggactggg	18	13	0	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr9:139752912G>T	ENST00000317446.2	+	22	2785	c.2735G>T	c.(2734-2736)gGc>gTc	p.G912V	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.G991V	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCGGCCTGGGCGGATACAGC	0.687																																																	0								ENSG00000177943						26	33	31					9																	139752912		2189	4295	6484	MAMDC4	SO:0001583	missense	0			-	HGNC	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2735G>T	9.37:g.139752912G>T	ENSP00000319388:p.Gly912Val	Somatic	0	30	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91		Missense_Mutation	SNP							pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.G991V	ENST00000317446.2	37	c.2972	CCDS7010.1	9	.	.	.	.	.	.	.	.	.	.	.	14.70	2.614136	0.46631	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.02158	4.42;4.42	5.05	5.05	0.67936	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.346611	0.24664	N	0.036604	T	0.08492	0.0211	M	0.64997	1.995	0.21967	N	0.999448	D;D	0.89917	0.974;1.0	D;D	0.78314	0.95;0.991	T	0.13282	-1.0515	10	0.52906	T	0.07	-27.8183	7.3718	0.26806	0.0905:0.1716:0.7379:0.0	.	991;912	Q6UXC1;Q6UXC1-2	AEGP_HUMAN;.	V	912;991	ENSP00000319388:G912V;ENSP00000411339:G991V	ENSP00000319388:G912V	G	+	2	0	MAMDC4	138872733	0.282000	0.24268	0.342000	0.25602	0.674000	0.39518	2.469000	0.45110	2.355000	0.79922	0.561000	0.74099	GGC	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	protein_coding	OTTHUMT00000254642.3	G	NM_206920	-		139752912	1	no_errors	ENST00000445819	ensembl	human	known	74_37	missense	SNP	0.053	T	T	139752912	G	T	139752912	3	4	220	1	0	0	0	0	1	0	0	0	9206	1203	42	3	2821	3	MAMDC4	9	139752912	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	59819647	139752912	1460519	35	17831											
PCDH15	65217	genome.wustl.edu	37	chr10	55626560	55626560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttccctctttaattgGtggtattatgagtctgtagg	9	6	3	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr10:55626560G>T	ENST00000320301.6	-	27	3953	c.3559C>A	c.(3559-3561)Cca>Aca	p.P1187T	PCDH15_ENST00000395433.1_Missense_Mutation_p.P1165T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.P798T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1192T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1116T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1150T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1194T|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1194T|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1187T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1187T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1187T|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1187	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				TCTTTAATTGGTGGTATTATG	0.368										HNSCC(58;0.16)																																							0								ENSG00000150275						155	143	147					10																	55626560		2203	4300	6503	PCDH15	SO:0001583	missense	0			-	HGNC	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.3559C>A	10.37:g.55626560G>T	ENSP00000322604:p.Pro1187Thr	Somatic	0	43	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1187T	ENST00000320301.6	37	c.3559	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180102	0.78564	.	.	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	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67031	0.2850	L	0.54323	1.7	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.935;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.986	D;D;D;P;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.891;1.0;1.0;1.0;1.0;0.997;0.997;0.998;1.0;0.961	T	0.67039	-0.5771	9	0.72032	D	0.01	.	19.6571	0.95847	0.0:0.0:1.0:0.0	.	1165;1187;1187;1192;1116;1150;1187;1187;1194;1194;1187;1192;1187	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1194;1192;1187;1187;798;1194;1150;1187;1165;1187;1187;1192;1116	ENSP00000363076:P1194T;ENSP00000410304:P1192T;ENSP00000378826:P1187T;ENSP00000386693:P798T;ENSP00000378832:P1194T;ENSP00000378820:P1150T;ENSP00000354950:P1187T;ENSP00000378821:P1165T;ENSP00000322604:P1187T;ENSP00000378818:P1187T;ENSP00000412628:P1116T	ENSP00000322604:P1187T	P	-	1	0	PCDH15	55296566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.062000	0.89475	2.750000	0.94351	0.655000	0.94253	CCA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	G	NM_033056	-		55626560	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55626560	G	T	55626560	3	4	220	1	0	0	0	0	1	0	0	0	11513	1261	44	3	3955	3	PCDH15	10	55626560	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		55626560	79908187	36	17832											
OR5P2	120065	genome.wustl.edu	37	chr11	7817740	7817740	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcacataaatgaaggtaatGgtcccatagaacagggtaac	9	7	1	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr11:7817740G>T	ENST00000329434.2	-	1	780	c.750C>A	c.(748-750)acC>acA	p.T250T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGGTAATGGTCCCATAGA	0.507																																																	0								ENSG00000183303						125	127	126					11																	7817740		2110	4292	6402	OR5P2	SO:0001819	synonymous_variant	0			-	HGNC	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.750C>A	11.37:g.7817740G>T		Somatic	0	43	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	Q3MIS8	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T250	ENST00000329434.2	37	c.750	CCDS7782.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.507	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	protein_coding	OTTHUMT00000385696.1	G	NM_153444	-		7817740	-1	no_errors	ENST00000329434	ensembl	human	known	74_37	silent	SNP	0.004	T	T	7817740	G	T	7817740	2	4	220	1	0	0	0	0	0	0	0	1	11180	1335	47	3		3	OR5P2	11	7817740	Silent	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		7817740	127188776	37	17833											
FAM111B	374393	genome.wustl.edu	37	chr11	58892214	58892214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaactttgtatttatgCcttgaagggtgagactattg	10	4	0	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr11:58892214C>T	ENST00000343597.3	+	4	835	c.644C>T	c.(643-645)gCc>gTc	p.A215V	FAM111B_ENST00000529618.1_Missense_Mutation_p.A185V|FAM111B_ENST00000411426.1_Missense_Mutation_p.A185V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	215							catalytic activity (GO:0003824)	p.A215G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGTATTTATGCCTTGAAGGGT	0.368																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000189057						93	91	92					11																	58892214		2201	4294	6495	FAM111B	SO:0001583	missense	0			-	HGNC	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.644C>T	11.37:g.58892214C>T	ENSP00000341565:p.Ala215Val	Somatic	0	41	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B4E2G2|Q6P661	Missense_Mutation	SNP							superfamily_Trypsin-like_Pept_dom	p.A215V	ENST00000343597.3	37	c.644	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190555	0.58017	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.49720	0.77;0.77;0.78	4.37	-1.22	0.09494	.	0.388394	0.20408	N	0.092904	T	0.59528	0.2200	M	0.74881	2.28	0.09310	N	1	D	0.69078	0.997	P	0.61397	0.888	T	0.55270	-0.8167	10	0.72032	D	0.01	.	10.3848	0.44134	0.1295:0.3578:0.5127:0.0	.	215	Q6SJ93	F111B_HUMAN	V	185;185;215	ENSP00000393855:A185V;ENSP00000432875:A185V;ENSP00000341565:A215V	ENSP00000341565:A215V	A	+	2	0	FAM111B	58648790	0.559000	0.26562	0.013000	0.15412	0.092000	0.18411	0.777000	0.26718	0.027000	0.15297	-0.181000	0.13052	GCC	-	NULL		0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	protein_coding	OTTHUMT00000393974.1	C	NM_198947	-		58892214	1	no_errors	ENST00000343597	ensembl	human	known	74_37	missense	SNP	0.049	T	T	58892214	C	T	58892214	3	4	220	1	0	0	0	0	1	0	0	0	5402	739	26	2	650	2	FAM111B	11	58892214	Missense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09	51074474	58892214	76114302	38	17834											
MS4A12	54860	genome.wustl.edu	37	chr11	60264870	60264870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccaccaagcagctttatgGctcctggatttcaacagcct	7	14	1	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr11:60264870G>T	ENST00000016913.4	+	2	136	c.79G>T	c.(79-81)Gct>Tct	p.A27S	MS4A12_ENST00000537076.1_Missense_Mutation_p.A27S|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	27						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAGCTTTATGGCTCCTGGATT	0.473																																																	0								ENSG00000071203						104	104	104					11																	60264870		2203	4300	6503	MS4A12	SO:0001583	missense	0			-	HGNC	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.79G>T	11.37:g.60264870G>T	ENSP00000016913:p.Ala27Ser	Somatic	0	60	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	64	23.81	F5GX98|Q8N6L4	Missense_Mutation	SNP							pfam_CD20-like	p.A27S	ENST00000016913.4	37	c.79	CCDS7988.1	11	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734082	0.30684	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.52295	1.64;0.67;3.45;0.82	4.59	-1.09	0.09904	.	836.430000	0.00166	N	0.000000	T	0.28532	0.0706	N	0.24115	0.695	0.09310	N	1	P;B	0.37101	0.582;0.121	B;B	0.34722	0.188;0.035	T	0.07712	-1.0758	10	0.22109	T	0.4	.	0.9704	0.01414	0.1736:0.1546:0.3555:0.3162	.	27;27	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	S	27	ENSP00000440424:A27S;ENSP00000431959:A27S;ENSP00000016913:A27S;ENSP00000434783:A27S	ENSP00000016913:A27S	A	+	1	0	MS4A12	60021446	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.013000	0.12678	-0.005000	0.14395	-0.311000	0.09066	GCT	-	NULL		0.473	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A12	protein_coding	OTTHUMT00000383627.1	G		-		60264870	1	no_errors	ENST00000016913	ensembl	human	known	74_37	missense	SNP	0.000	T	T	60264870	G	T	60264870	3	4	220	1	0	0	0	0	1	0	0	0	9858	1203	42	3	81	3	MS4A12	11	60264870	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	1372656	60264870	74741646	39	17835											
PGR	5241	genome.wustl.edu	37	chr11	100996760	100996760	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccattgccctcttaaagaaGaccttacagctcccacaggt	6	14	1	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr11:100996760G>C	ENST00000325455.5	-	2	3220	c.1767C>G	c.(1765-1767)gtC>gtG	p.V589V	PGR_ENST00000263463.5_Silent_p.V589V|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	589					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTTAAAGAAGACCTTACAGC	0.393																																					Pancreas(124;2271 2354 21954 22882)												0								ENSG00000082175						101	88	93					11																	100996760		2203	4300	6503	PGR	SO:0001819	synonymous_variant	0			-	HGNC	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1767C>G	11.37:g.100996760G>C		Somatic	0	88	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	92	9.71	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP							pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.V589	ENST00000325455.5	37	c.1767	CCDS8310.1	11																																																																																			-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.393	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	protein_coding	OTTHUMT00000394934.1	G		-		100996760	-1	no_errors	ENST00000325455	ensembl	human	known	74_37	silent	SNP	1.000	C	C	100996760	G	C	100996760	2	2	220	1	0	0	0	0	0	0	0	1	11807	929	33	4		4	PGR	11	100996760	Silent	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	40731890	100996760	34009756	40	17836											
A2M	2	genome.wustl.edu	37	chr12	9248236	9248236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgatgcagtcttcattgtCctggtcattcaaaggcccag	9	10	4	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr12:9248236C>T	ENST00000318602.7	-	16	2219	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	638					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCTTCATTGTCCTGGTCATTC	0.388																																																	0								ENSG00000175899						107	104	105					12																	9248236		1864	4099	5963	A2M	SO:0001583	missense	0			-	HGNC	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1912G>A	12.37:g.9248236C>T	ENSP00000323929:p.Asp638Asn	Somatic	0	84	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	72	10.00	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.D638N	ENST00000318602.7	37	c.1912	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488561	0.44249	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.31510	1.49	5.65	4.76	0.60689	.	1.132090	0.06462	N	0.729636	T	0.34164	0.0888	L	0.46741	1.465	0.09310	N	1	B	0.17268	0.021	B	0.20384	0.029	T	0.32508	-0.9904	10	0.41790	T	0.15	.	13.924	0.63950	0.0:0.9257:0.0:0.0743	.	638	P01023	A2MG_HUMAN	N	638;653	ENSP00000323929:D638N	ENSP00000323929:D638N	D	-	1	0	A2M	9139503	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.248000	0.08854	1.527000	0.49086	0.650000	0.86243	GAC	-	NULL		0.388	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	protein_coding	OTTHUMT00000317233.2	C	NM_000014	-		9248236	-1	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	SNP	0.020	T	T	9248236	C	T	9248236	3	4	220	1	0	0	0	0	1	0	0	0	4	855	30	2	2596	2	A2M	12	9248236	Missense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09		9248236	124603659	41	17837											
KIAA0748	9840	genome.wustl.edu	37	chr12	55354969	55354969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcacgagtctttgccaGcaaaagtctggtggtggtgg	13	8	3	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr12:55354969G>A	ENST00000449076.1	-	10	1682	c.1550C>T	c.(1549-1551)gCt>gTt	p.A517V	TESPA1_ENST00000524622.1_Missense_Mutation_p.A379V|TESPA1_ENST00000531122.1_Missense_Mutation_p.A379V|TESPA1_ENST00000532804.1_Missense_Mutation_p.A379V|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.A517V	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	517					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GTCTTTGCCAGCAAAAGTCTG	0.507																																																	0								ENSG00000135426						140	166	157					12																	55354969		2184	4294	6478	TESPA1	SO:0001583	missense	0			-	HGNC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1550C>T	12.37:g.55354969G>A	ENSP00000400892:p.Ala517Val	Somatic	0	46	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP							NULL	p.A517V	ENST00000449076.1	37	c.1550	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153851	0.38021	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.46819	0.86;0.86;0.87;0.87;0.86	4.15	2.33	0.28932	.	0.658638	0.13332	N	0.395823	T	0.32436	0.0829	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.27226	-1.0080	10	0.72032	D	0.01	4.3059	6.4127	0.21700	0.2178:0.0:0.7822:0.0	.	517	A2RU30	K0748_HUMAN	V	379;379;517;517;379	ENSP00000435622:A379V;ENSP00000432030:A379V;ENSP00000400892:A517V;ENSP00000312679:A517V;ENSP00000433098:A379V	ENSP00000312679:A517V	A	-	2	0	KIAA0748	53641236	0.003000	0.15002	0.001000	0.08648	0.015000	0.08874	0.700000	0.25601	0.724000	0.32296	0.650000	0.86243	GCT	-	NULL		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	protein_coding	OTTHUMT00000383822.1	G	NM_001098815	-		55354969	-1	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	SNP	0.001	A	A	55354969	G	A	55354969	3	1	220	1	0	0	0	0	1	0	0	0	8192	971	34	2	19	2	KIAA0748	12	55354969	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	46106733	55354969	78496926	42	17838											
POP5	51367	genome.wustl.edu	37	chr12	121017374	121017374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgttgtactgaattaGgaacttctgacatgttctta	7	8	3	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr12:121017374G>T	ENST00000357500.4	-	4	375	c.340C>A	c.(340-342)Cta>Ata	p.L114I	POP5_ENST00000341039.2_Missense_Mutation_p.L64I|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	114					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					TACTGAATTAGGAACTTCTGA	0.463																																																	0								ENSG00000167272						212	185	194					12																	121017374		2203	4300	6503	POP5	SO:0001583	missense	0			-	HGNC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.340C>A	12.37:g.121017374G>T	ENSP00000350098:p.Leu114Ile	Somatic	0	34	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NL80|Q53FS5|Q9Y2Q6	Missense_Mutation	SNP							pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	p.L114I	ENST00000357500.4	37	c.340	CCDS9202.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414272	0.83449	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.53617	1.68	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.961	T	0.76710	-0.2859	9	0.87932	D	0	-11.3893	14.1922	0.65646	0.0732:0.0:0.9268:0.0	.	64;114	A6NL80;Q969H6	.;POP5_HUMAN	I	64;114	.	ENSP00000341791:L64I	L	-	1	2	POP5	119501757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.669000	0.54561	2.469000	0.83416	0.655000	0.94253	CTA	-	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5		0.463	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP5	protein_coding	OTTHUMT00000401993.1	G	NM_015918	-		121017374	-1	no_errors	ENST00000357500	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121017374	G	T	121017374	3	4	220	1	0	0	0	0	1	0	0	0	12255	991	35	3	159	3	POP5	12	121017374	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	65662405	121017374	12834521	43	17839											
PLEKHH1	57475	genome.wustl.edu	37	chr14	68038854	68038854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctccctcggcaaggcGtctccatgtcctcactgagc	8	18	2	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr14:68038854G>T	ENST00000329153.5	+	11	1720	c.1588G>T	c.(1588-1590)Gtc>Ttc	p.V530F		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	530						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)		TCGGCAAGGCGTCTCCATGTC	0.657																																																	0								ENSG00000054690						27	29	28					14																	68038854		2075	4199	6274	PLEKHH1	SO:0001583	missense	0			-	HGNC	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.1588G>T	14.37:g.68038854G>T	ENSP00000330278:p.Val530Phe	Somatic	0	66	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.V530F	ENST00000329153.5	37	c.1588	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903660	0.92035	.	.	ENSG00000054690	ENST00000329153	T	0.14022	2.54	4.78	4.78	0.61160	.	0.128905	0.52532	D	0.000072	T	0.36082	0.0954	M	0.69823	2.125	0.80722	D	1	D;P	0.69078	0.997;0.932	D;P	0.67900	0.954;0.699	T	0.13282	-1.0515	10	0.87932	D	0	.	16.24	0.82402	0.0:0.0:1.0:0.0	.	45;530	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	F	530	ENSP00000330278:V530F	ENSP00000330278:V530F	V	+	1	0	PLEKHH1	67108607	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	9.284000	0.95882	2.481000	0.83766	0.555000	0.69702	GTC	-	NULL		0.657	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	protein_coding	OTTHUMT00000412730.3	G	XM_031054	-		68038854	1	no_errors	ENST00000329153	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68038854	G	T	68038854	3	4	220	1	0	0	0	0	1	0	0	0	12078	1145	40	3	1626	3	PLEKHH1	14	68038854	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		68038854	39310686	44	17840											
BUB1B	701	genome.wustl.edu	37	chr15	40505677	40505677	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgattctcagaaacaggTtggtccttttcattcttata	7	8	4	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr15:40505677T>C	ENST00000287598.6	+	20	2873		c.e20+2		BUB1B_ENST00000412359.3_Splice_Site	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAGAAACAGGTTGGTCCTTTT	0.388			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0								ENSG00000156970						129	136	134					15																	40505677		2203	4300	6503	BUB1B	SO:0001630	splice_region_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	-	HGNC	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2678+2T>C	15.37:g.40505677T>C		Somatic	0	41	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Splice_Site	SNP							-	e20+2	ENST00000287598.6	37	c.2720+2	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794831	0.70452	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7037	0.69174	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BUB1B	38292969	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.805000	0.55575	1.872000	0.54250	0.402000	0.26972	.	-	-		0.388	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	protein_coding	OTTHUMT00000252122.4	T		-	Intron	40505677	1	no_errors	ENST00000412359	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	40505677	T	C	40505677	5	2	220	1	0	0	0	0	0	0	1	0	1573	1739	60	5	2758	5	BUB1B	15	40505677	Splice_Site	SNP	T	TCGA-VT-AB3D-01A-12D-A417-09		40505677	62025715	45	17841											
KIF1C	10749	genome.wustl.edu	37	chr17	4903611	4903611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgagaccagccaggatGccaagtgtgtggtcagcatg	14	11	1	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr17:4903611G>A	ENST00000320785.5	+	3	427	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	INCA1_ENST00000355025.3_5'Flank|INCA1_ENST00000575780.1_5'Flank|INCA1_ENST00000396829.2_5'Flank	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	24	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						CAGCCAGGATGCCAAGTGTGT	0.652																																					Melanoma(96;1023 1447 10250 19259 33730)												0								ENSG00000129250						65	50	55					17																	4903611		2201	4297	6498	KIF1C	SO:0001583	missense	0			-	HGNC	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.70G>A	17.37:g.4903611G>A	ENSP00000320821:p.Ala24Thr	Somatic	0	62	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A24T	ENST00000320785.5	37	c.70	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629168	0.46944	.	.	ENSG00000129250	ENST00000320785	T	0.75260	-0.92	4.01	4.01	0.46588	Kinesin, motor domain (4);	.	.	.	.	T	0.70430	0.3223	L	0.28649	0.875	0.41923	D	0.990523	D	0.53312	0.959	P	0.50590	0.645	T	0.70557	-0.4839	9	0.34782	T	0.22	.	14.4403	0.67311	0.0:0.0:1.0:0.0	.	24	O43896	KIF1C_HUMAN	T	24	ENSP00000320821:A24T	ENSP00000320821:A24T	A	+	1	0	KIF1C	4844335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.652000	0.37313	2.154000	0.67381	0.467000	0.42956	GCC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.652	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	protein_coding	OTTHUMT00000216916.1	G		-		4903611	1	no_errors	ENST00000320785	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4903611	G	A	4903611	3	1	220	1	0	0	0	0	1	0	0	0	8287	1319	46	2	72	2	KIF1C	17	4903611	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		4903611	76291599	46	17842											
SARM1	23098	genome.wustl.edu	37	chr17	26708340	26708340	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acatgttcaagcattcggagGagacatgccagaggctggtg	14	8	1	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr17:26708340G>T	ENST00000457710.3	+	2	958	c.487G>T	c.(487-489)Gag>Tag	p.E163*	SARM1_ENST00000379061.4_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.G217V	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	197					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCATTCGGAGGAGACATGCCA	0.682																																																	0								ENSG00000004139						38	33	35					17																	26708340		2199	4287	6486	SARM1	SO:0001587	stop_gained	0			-	HGNC	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.487G>T	17.37:g.26708340G>T	ENSP00000406738:p.Glu163*	Somatic	0	54	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	O60277|Q7LGG3|Q9NXY5	Nonsense_Mutation	SNP							pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.E163*	ENST00000457710.3	37	c.487		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.147246|8.147246	0.98678|0.98678	.|.	.|.	ENSG00000004139|ENSG00000244045	ENST00000457710;ENST00000003834|ENST00000509083	.|T	.|0.47869	.|0.83	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66752	.|0.2821	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.59643	.|0.861	.|T	.|0.72191	.|-0.4365	.|7	0.22109|0.87932	T|D	0.4|0	-17.3493|-17.3493	18.3363|18.3363	0.90288|0.90288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|217	.|E9PBQ3	.|.	X|V	195;163|217	.|ENSP00000427614:G217V	ENSP00000003834:E163X|ENSP00000427614:G217V	E|G	+|+	1|2	0|0	SARM1|TMEM199	23732467|23732467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	9.807000|9.807000	0.99171|0.99171	2.323000|2.323000	0.78572|0.78572	0.563000|0.563000	0.77884|0.77884	GAG|GGA	-	superfamily_ARM-type_fold		0.682	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	protein_coding	OTTHUMT00000255679.3	G	NM_015077	-		26708340	1	no_errors	ENST00000457710	ensembl	human	novel	74_37	nonsense	SNP	1.000	T	T	26708340	G	T	26708340	4	4	220	1	0	0	0	0	0	1	0	0	13850	1175	41	3	593	3	SARM1	17	26708340	Nonsense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	21804729	26708340	54486870	47	17843											
BAIAP2	10458	genome.wustl.edu	37	chr17	79080670	79080670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggccagcggcttcaagcAgaggccctacagtgtggccg	15	13	1	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr17:79080670A>G	ENST00000321300.6	+	12	1556	c.1463A>G	c.(1462-1464)cAg>cGg	p.Q488R	BAIAP2_ENST00000435091.3_Missense_Mutation_p.Q488R|BAIAP2_ENST00000428708.2_Missense_Mutation_p.Q488R|BAIAP2_ENST00000416299.2_Missense_Mutation_p.Q351R|BAIAP2_ENST00000575712.1_Missense_Mutation_p.Q488R|BAIAP2_ENST00000392411.3_Missense_Mutation_p.Q410R|BAIAP2_ENST00000321280.7_Missense_Mutation_p.Q488R|BAIAP2_ENST00000575245.1_Missense_Mutation_p.Q521R	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	488					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.Q488L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCTTCAAGCAGAGGCCCTAC	0.721																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000175866						21	22	22					17																	79080670		2184	4296	6480	BAIAP2	SO:0001583	missense	0			-	HGNC	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1463A>G	17.37:g.79080670A>G	ENSP00000316338:p.Gln488Arg	Somatic	0	20	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP							pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q488R	ENST00000321300.6	37	c.1463	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	A	3.257	-0.152111	0.06585	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.33654	1.91;1.92;1.42;1.42;1.89;1.4	4.78	4.78	0.61160	.	0.292453	0.34002	N	0.004346	T	0.31888	0.0811	L	0.47190	1.495	0.34126	D	0.664671	P;P;P;B;P;B;B;B;P	0.44627	0.736;0.73;0.839;0.258;0.515;0.328;0.374;0.374;0.515	B;B;B;B;B;B;B;B;B	0.41988	0.221;0.283;0.372;0.101;0.206;0.116;0.206;0.206;0.206	T	0.49744	-0.8907	10	0.40728	T	0.16	-27.4715	9.6702	0.40008	0.8249:0.1751:0.0:0.0	.	351;410;489;488;488;488;488;489;488	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	R	488;488;488;488;410;351	ENSP00000316338:Q488R;ENSP00000401022:Q488R;ENSP00000413069:Q488R;ENSP00000315685:Q488R;ENSP00000376211:Q410R;ENSP00000391837:Q351R	ENSP00000315685:Q488R	Q	+	2	0	BAIAP2	76695265	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	1.867000	0.39499	1.811000	0.52892	0.248000	0.18094	CAG	-	NULL		0.721	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	protein_coding	OTTHUMT00000438553.1	A		-		79080670	1	no_errors	ENST00000321300	ensembl	human	known	74_37	missense	SNP	1.000	G	G	79080670	A	G	79080670	3	3	220	1	0	0	0	0	1	0	0	0	1301	188	7	5	1509	5	BAIAP2	17	79080670	Missense_Mutation	SNP	A	TCGA-VT-AB3D-01A-12D-A417-09	52372330	79080670	2114540	48	17844											
SYT4	6860	genome.wustl.edu	37	chr18	40853554	40853554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaataaattaccctaacattTctcttgatgatctctctatt	2	9	3	2			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr18:40853554T>C	ENST00000255224.3	-	2	1208	c.840A>G	c.(838-840)agA>agG	p.R280R	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.R262R	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	280	Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCCTAACATTTCTCTTGATGA	0.294																																					NSCLC(85;81 1419 2855 22820 35912)												0								ENSG00000132872						28	29	29					18																	40853554		2115	4253	6368	SYT4	SO:0001819	synonymous_variant	0			-	HGNC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.840A>G	18.37:g.40853554T>C		Somatic	0	77	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.44	B4DEU3|Q9P2K4	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.R280	ENST00000255224.3	37	c.840	CCDS11922.1	18																																																																																			-	NULL		0.294	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	protein_coding	OTTHUMT00000255851.2	T	NM_020783	-		40853554	-1	no_errors	ENST00000255224	ensembl	human	known	74_37	silent	SNP	1.000	C	C	40853554	T	C	40853554	2	2	220	1	0	0	0	0	0	0	0	1	15483	1780	62	5		5	SYT4	18	40853554	Silent	SNP	T	TCGA-VT-AB3D-01A-12D-A417-09		40853554	37223694	49	17845											
LIPE	3991	genome.wustl.edu	37	chr19	42930831	42930831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttagcctgggccgcAggtgttgattcagcttcttg	13	10	2	1			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr19:42930831A>G	ENST00000244289.4	-	1	747	c.471T>C	c.(469-471)ccT>ccC	p.P157P	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	157					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCTGGGCCGCAGGTGTTGATT	0.557																																																	0								ENSG00000079435						93	91	92					19																	42930831		2203	4300	6503	LIPE	SO:0001819	synonymous_variant	0			-	HGNC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.471T>C	19.37:g.42930831A>G		Somatic	0	27	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q3LRT2|Q6NSL7	Silent	SNP							pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.P157	ENST00000244289.4	37	c.471	CCDS12607.1	19																																																																																			-	NULL		0.557	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	protein_coding	OTTHUMT00000463861.1	A	NM_005357	-		42930831	-1	no_errors	ENST00000244289	ensembl	human	known	74_37	silent	SNP	0.044	G	G	42930831	A	G	42930831	2	3	220	1	0	0	0	0	0	0	0	1	8823	175	7	5		5	LIPE	19	42930831	Silent	SNP	A	TCGA-VT-AB3D-01A-12D-A417-09		42930831	16198152	50	17846											
TFAP2C	7022	genome.wustl.edu	37	chr20	55206468	55206468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggggaagcgtacgccgccGccatcaaccccctgcaccag	12	17	1	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr20:55206468G>T	ENST00000201031.2	+	2	499	c.256G>T	c.(256-258)Gcc>Tcc	p.A86S	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	86	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GTACGCCGCCGCCATCAACCC	0.716																																																	0								ENSG00000087510						11	12	12					20																	55206468		2187	4280	6467	TFAP2C	SO:0001583	missense	0			-	HGNC		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.256G>T	20.37:g.55206468G>T	ENSP00000201031:p.Ala86Ser	Somatic	0	62	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.70	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.A86S	ENST00000201031.2	37	c.256	CCDS13454.1	20	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.363524	0.01235	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	D;T	0.96802	-4.13;-1.0	5.58	0.814	0.18756	.	0.000000	0.43579	D	0.000553	D	0.88062	0.6336	N	0.24115	0.695	0.45227	D	0.998232	B	0.11235	0.004	B	0.10450	0.005	T	0.77008	-0.2747	10	0.05620	T	0.96	-24.8709	4.7734	0.13167	0.0758:0.1016:0.3546:0.468	.	86	Q92754	AP2C_HUMAN	S	86;74	ENSP00000201031:A86S;ENSP00000390857:A74S	ENSP00000201031:A86S	A	+	1	0	TFAP2C	54639875	0.003000	0.15002	0.392000	0.26245	0.050000	0.14768	0.044000	0.13992	0.662000	0.31006	0.491000	0.48974	GCC	-	prints_TF_AP2_gamma		0.716	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	protein_coding	OTTHUMT00000079823.2	G	NM_003222	-		55206468	1	no_errors	ENST00000201031	ensembl	human	known	74_37	missense	SNP	0.072	T	T	55206468	G	T	55206468	3	4	220	1	0	0	0	0	1	0	0	0	15796	1087	38	3	262	3	TFAP2C	20	55206468	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		55206468	7819052	51	17847											
RAE1	8480	genome.wustl.edu	37	chr20	55949675	55949675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcaggtaaatggaatcGcgttccatcctgttcatggc	10	11	1	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr20:55949675G>A	ENST00000395841.2	+	11	1258	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	RAE1_ENST00000371242.2_Missense_Mutation_p.A280T|RAE1_ENST00000527947.1_Missense_Mutation_p.A280T|RAE1_ENST00000395840.2_Missense_Mutation_p.A280T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	280					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|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 export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.A280T(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AAATGGAATCGCGTTCCATCC	0.493																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000101146						199	190	193					20																	55949675		2203	4300	6503	RAE1	SO:0001583	missense	0			-	HGNC	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.838G>A	20.37:g.55949675G>A	ENSP00000379182:p.Ala280Thr	Somatic	0	47	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A280T	ENST00000395841.2	37	c.838	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497606	0.85069	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.91	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.147777	0.64402	D	0.000008	T	0.77177	0.4092	M	0.82517	2.595	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.57057	0.589;0.812;0.812	T	0.81169	-0.1055	10	0.56958	D	0.05	-13.9053	16.2734	0.82632	0.0:0.0:0.8664:0.1336	.	280;280;280	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	T	280	ENSP00000379182:A280T;ENSP00000360286:A280T;ENSP00000432609:A280T;ENSP00000379181:A280T	ENSP00000360286:A280T	A	+	1	0	RAE1	55383082	1.000000	0.71417	0.501000	0.27601	0.969000	0.65631	3.633000	0.54295	1.457000	0.47850	0.655000	0.94253	GCG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat		0.493	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	protein_coding	OTTHUMT00000079842.2	G		-		55949675	1	no_errors	ENST00000371242	ensembl	human	known	74_37	missense	SNP	0.973	A	A	55949675	G	A	55949675	3	1	220	1	0	0	0	0	1	0	0	0	13006	1087	38	1	876	1	RAE1	20	55949675	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09	743207	55949675	7075845	52	17848											
SAMSN1	64092	genome.wustl.edu	37	chr21	15870817	15870817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccttcttctgtcatctgGgttttcaatatttaattcaa	4	8	6	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr21:15870817G>A	ENST00000400566.1	-	7	946	c.865C>T	c.(865-867)Cca>Tca	p.P289S	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.P121S|SAMSN1_ENST00000285670.2_Missense_Mutation_p.P357S	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	289	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTGTCATCTGGGTTTTCAATA	0.358																																																	0								ENSG00000155307						105	93	97					21																	15870817		1810	4066	5876	SAMSN1	SO:0001583	missense	0			-	HGNC	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.865C>T	21.37:g.15870817G>A	ENSP00000383411:p.Pro289Ser	Somatic	0	85	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	78	9.30	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP							pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.P289S	ENST00000400566.1	37	c.865	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927057	0.34002	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.84298	-1.83;-1.83;-1.83	6.04	2.09	0.27110	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.379664	0.32719	N	0.005735	T	0.78097	0.4230	L	0.49126	1.545	0.47374	D	0.999406	B;B;B	0.27264	0.173;0.003;0.004	B;B;B	0.29077	0.098;0.004;0.022	T	0.67356	-0.5691	10	0.40728	T	0.16	-1.658	5.6713	0.17723	0.287:0.1291:0.5839:0.0	.	121;357;289	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	S	357;289;121	ENSP00000285670:P357S;ENSP00000383411:P289S;ENSP00000383409:P121S	ENSP00000285670:P357S	P	-	1	0	SAMSN1	14792688	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	3.095000	0.50235	0.104000	0.17725	-0.244000	0.11960	CCA	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.358	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	protein_coding	OTTHUMT00000157914.1	G		-		15870817	-1	no_errors	ENST00000400566	ensembl	human	known	74_37	missense	SNP	1.000	A	A	15870817	G	A	15870817	3	1	220	1	0	0	0	0	1	0	0	0	13838	1232	43	2	264	2	SAMSN1	21	15870817	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		15870817	32259078	53	17849											
CACNA1I	8911	genome.wustl.edu	37	chr22	40055726	40055726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccaggaggactggaacGtcgttctctacaatggcatg	11	11	2	0	rs199827082		TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chr22:40055726G>A	ENST00000402142.3	+	14	2473	c.2473G>A	c.(2473-2475)Gtc>Atc	p.V825I	CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.V831I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	825					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGACTGGAACGTCGTTCTCTA	0.572																																																	0								ENSG00000100346	G	ILE/VAL,ILE/VAL	0,4154		0,0,2077	139	142	141		2368,2473	2.4	1	22		141	2,8380		0,2,4189	yes	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	29,29	0,2,6266	AA,AG,GG		0.0239,0.0,0.016	benign,benign	790/2189,825/2224	40055726	2,12534	2077	4191	6268	CACNA1I	SO:0001583	missense	0			-	HGNC	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2473G>A	22.37:g.40055726G>A	ENSP00000385019:p.Val825Ile	Somatic	0	40	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V831I	ENST00000402142.3	37	c.2491	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562026	0.45590	0.0	2.39E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	4.67	2.43	0.29744	Ion transport (1);	0.266978	0.37623	N	0.002004	D	0.93318	0.7870	L	0.42686	1.345	0.33981	D	0.648016	P;P;P;P	0.48589	0.827;0.854;0.912;0.909	B;B;B;B	0.41135	0.169;0.239;0.239;0.348	D	0.93069	0.6481	10	0.26408	T	0.33	.	10.1303	0.42674	0.08:0.1405:0.7796:0.0	.	790;825;790;825	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	825;790;825;790;831;790	ENSP00000385019:V825I;ENSP00000384093:V790I;ENSP00000383887:V825I;ENSP00000385680:V790I;ENSP00000337829:V831I;ENSP00000383028:V790I	ENSP00000337829:V831I	V	+	1	0	CACNA1I	38385672	0.996000	0.38824	1.000000	0.80357	0.935000	0.57460	2.193000	0.42658	2.284000	0.76573	0.655000	0.94253	GTC	-	pfam_Ion_trans_dom,prints_VDCCAlpha1		0.572	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	G	NM_001003406	rs199827082		40055726	1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40055726	G	A	40055726	3	1	220	1	0	0	0	0	1	0	0	0	2548	1145	40	1	2527	1	CACNA1I	22	40055726	Missense_Mutation	SNP	G	TCGA-VT-AB3D-01A-12D-A417-09		40055726	11248840	54	17850											
ATRX	546	genome.wustl.edu	37	chrX	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttgccttcttaatcatctCtttgggcacaattagtgcgg	8	9	3	0			TCGA-VT-AB3D-01A-12D-A417-09	TCGA-VT-AB3D-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51932322-cd96-4c1b-a8ba-660637fff36b	c94fc63b-bf20-4585-9319-5f35435795df	g.chrX:76939697C>A	ENST00000373344.5	-	9	1265	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAATCATCTCTTTGGGCACA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						81	78	79					X																	76939697		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1051G>T	X.37:g.76939697C>A	ENSP00000362441:p.Glu351*	Somatic	0	18	0		0.511765491489586				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E351*	ENST00000373344.5	37	c.1051	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	38	6.875248	0.97904	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.3	4.44	0.53790	.	0.196705	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.1203	13.1753	0.59624	0.0:0.9208:0.0:0.0792	.	.	.	.	X	351;313;307	.	ENSP00000362441:E351X	E	-	1	0	ATRX	76826353	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.481000	0.81124	1.014000	0.39417	0.502000	0.49764	GAG	-	NULL		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	C	NM_000489	-		76939697	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	76939697	C	A	76939697	4	1	220	1	0	0	0	0	0	1	0	0	1208	922	32	3	6535	3	ATRX	23	76939697	Nonsense_Mutation	SNP	C	TCGA-VT-AB3D-01A-12D-A417-09		76939697	78330863	55	17851											
PANK4	55229	genome.wustl.edu	37	chr1	2445492	2445492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagacagtgctccctggtGtccagcaggctgcgcacggt	13	13	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:2445492G>T	ENST00000378466.3	-	12	1536	c.1524C>A	c.(1522-1524)gaC>gaA	p.D508E	PANK4_ENST00000435556.3_Missense_Mutation_p.D469E	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	508					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCTCCCTGGTGTCCAGCAGGC	0.657																																																	0								ENSG00000157881						151	139	143					1																	2445492		2203	4300	6503	PANK4	SO:0001583	missense	0			-	HGNC	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1524C>A	1.37:g.2445492G>T	ENSP00000367727:p.Asp508Glu	Somatic	0	101	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP							pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.D508E	ENST00000378466.3	37	c.1524	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992704	0.54041	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.05925	3.37;3.37	4.92	-0.521	0.11931	Domain of unknown function DUF89 (2);	0.044980	0.85682	D	0.000000	T	0.02727	0.0082	N	0.16233	0.39	0.44908	D	0.997926	B;B	0.20164	0.042;0.012	B;B	0.23574	0.047;0.047	T	0.44742	-0.9308	10	0.10377	T	0.69	-39.0718	2.935	0.05811	0.2928:0.1165:0.4722:0.1185	.	469;508	E9PHT6;Q9NVE7	.;PANK4_HUMAN	E	508;469	ENSP00000367727:D508E;ENSP00000421433:D469E	ENSP00000367727:D508E	D	-	3	2	PANK4	2435352	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.966000	0.40481	0.499000	0.27970	0.462000	0.41574	GAC	-	pfam_DUF89,superfamily_DUF89,pirsf_PanK_long		0.657	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	protein_coding	OTTHUMT00000002082.1	G		-		2445492	-1	no_errors	ENST00000378466	ensembl	human	known	74_37	missense	SNP	0.999	T	T	2445492	G	T	2445492	3	4	221	1	0	0	0	0	1	0	0	0	11421	1368	48	3	829	3	PANK4	1	2445492	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		2445492	246805129	1	17852											
MATN1	4146	genome.wustl.edu	37	chr1	31189153	31189155	+	In_Frame_Del	DEL	GCC	GCC	-													accaggtcagtggccgagctGccaccaccaccactgcagac							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:31189153_31189155delGCC	ENST00000373765.4	-	5	843_845	c.808_810delGGC	c.(808-810)ggcdel	p.G270del	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	270	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCGAGCTGCCACCACCACCA	0.562																																																	0								ENSG00000162510																																			MATN1	SO:0001651	inframe_deletion	0				HGNC	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.808_810delGGC	1.37:g.31189153_31189155delGCC	ENSP00000362870:p.Gly270del	Somatic	0	50	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B2R7E3|Q5TBB9	In_Frame_Del	DEL							pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A	p.G270in_frame_del	ENST00000373765.4	37	c.810_808	CCDS336.1	1																																																																																			-	NULL		0.562	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1	protein_coding	OTTHUMT00000010458.1	GCC	NM_002379			31189155	-1	no_errors	ENST00000373765	ensembl	human	known	74_37	in_frame_del	DEL	0.054:0.022:0.004	-	-	31189155	GCC	-	31189153	7	5	221	1	0	1	0	1	0	0	0	0	9335	1306	46	0	696	0	MATN1	1	31189153	In_Frame_Del	DEL	GCC	TCGA-WK-A8XO-01A-11D-A37C-09	28743661	31189153	218061468	2	17853											
CYR61	3491	genome.wustl.edu	37	chr1	86047194	86047194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaaaacgcagccctgCgaccacaccaaggggctgga	12	14	0	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:86047194C>T	ENST00000451137.2	+	2	434	c.210C>T	c.(208-210)tgC>tgT	p.C70C	CYR61_ENST00000480413.1_3'UTR|RP11-290M5.4_ENST00000609367.1_lincRNA	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	70	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		CGCAGCCCTGCGACCACACCA	0.617											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000142871						32	31	32					1																	86047194		2203	4300	6503	CYR61	SO:0001819	synonymous_variant	0			-	HGNC	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.210C>T	1.37:g.86047194C>T		Somatic	0	53	0	1241	0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	O14934|O43775|Q9BZL7	Silent	SNP							pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.C70	ENST00000451137.2	37	c.210	CCDS706.1	1																																																																																			-	pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN		0.617	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYR61	protein_coding	OTTHUMT00000029187.1	C	NM_001554	-		86047194	1	no_errors	ENST00000451137	ensembl	human	known	74_37	silent	SNP	1.000	T	T	86047194	C	T	86047194	2	4	221	1	0	0	0	0	0	0	0	1	4201	776	27	1		1	CYR61	1	86047194	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	54858041	86047194	163203427	3	17854											
GBP4	115361	genome.wustl.edu	37	chr1	89661049	89661049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggcttagagaggtggggCacacaccacatccagatgcc	12	11	0	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:89661049C>A	ENST00000355754.6	-	3	391	c.294G>T	c.(292-294)gtG>gtT	p.V98V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	98	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					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)		AGAGGTGGGGCACACACCACA	0.532																																																	0								ENSG00000162654						130	118	122					1																	89661049		2203	4300	6503	GBP4	SO:0001819	synonymous_variant	0			-	HGNC	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.294G>T	1.37:g.89661049C>A		Somatic	0	103	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP							pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.V98	ENST00000355754.6	37	c.294	CCDS721.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.532	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941	-		89661049	-1	no_errors	ENST00000355754	ensembl	human	known	74_37	silent	SNP	0.890	A	A	89661049	C	A	89661049	2	1	221	1	0	0	0	0	0	0	0	1	6278	697	25	3		3	GBP4	1	89661049	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	3613855	89661049	159589572	4	17855											
HSPA6	3310	genome.wustl.edu	37	chr1	161495396	161495396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctcttccgcagcaccctGgagccggtggagaaggccct	13	15	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:161495396G>T	ENST00000309758.4	+	1	1361	c.948G>T	c.(946-948)ctG>ctT	p.L316L	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	316					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCAGCACCCTGGAGCCGGTGG	0.622																																																	0								ENSG00000173110						20	23	22					1																	161495396		2201	4293	6494	HSPA6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.948G>T	1.37:g.161495396G>T		Somatic	0	94	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L316	ENST00000309758.4	37	c.948	CCDS1231.1	1																																																																																			-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.622	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	protein_coding	OTTHUMT00000083308.1	G	NM_002155	-		161495396	1	no_errors	ENST00000309758	ensembl	human	known	74_37	silent	SNP	1.000	T	T	161495396	G	T	161495396	2	4	221	1	0	0	0	0	0	0	0	1	7417	1335	47	3		3	HSPA6	1	161495396	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	71834347	161495396	87755225	5	17856											
NOS1AP	9722	genome.wustl.edu	37	chr1	162335173	162335173	+	Intron	DEL	G	G	-													ctctctgtcctgtcttctctGccgctgcctcttctctgcag							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:162335173delG	ENST00000361897.5	+	9	1341				RP11-565P22.6_ENST00000431696.1_5'Flank|NOS1AP_ENST00000530878.1_Intron|NOS1AP_ENST00000493151.1_Frame_Shift_Del_p.A14fs	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein						regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGTCTTCTCTGCCGCTGCCTC	0.582																																																	0								ENSG00000198929						56	56	56					1																	162335173		2203	4300	6503	NOS1AP	SO:0001627	intron_variant	0				HGNC	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.940-21G>-	1.37:g.162335173delG		Somatic	0	48	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B7ZLF5|O43564|Q3T551|Q5VU95	Frame_Shift_Del	DEL							NULL	p.A12fs	ENST00000361897.5	37	c.34	CCDS1237.1	1																																																																																			-	NULL		0.582	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	protein_coding	OTTHUMT00000060555.2	G	NM_014697			162335173	1	no_errors	ENST00000493151	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	162335173	G	-	162335173	6	5	221	0	1	1	0	1	0	0	0	0	10544	1319	46	0		0	NOS1AP	1	162335173	Intron	DEL	G	TCGA-WK-A8XO-01A-11D-A37C-09	839777	162335173	86915448	6	17857											
USH2A	7399	genome.wustl.edu	37	chr1	216246595	216246595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacagatgccaagttaaCgacagcaccccgtgtaaatt	9	11	0	1	rs200923150		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr1:216246595C>T	ENST00000307340.3	-	28	6006	c.5620G>A	c.(5620-5622)Gtt>Att	p.V1874I	USH2A_ENST00000366943.2_Missense_Mutation_p.V1874I|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1874	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCAAGTTAACGACAGCACCC	0.453										HNSCC(13;0.011)																																							0								ENSG00000042781						81	67	71					1																	216246595		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5620G>A	1.37:g.216246595C>T	ENSP00000305941:p.Val1874Ile	Somatic	0	44	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V1874I	ENST00000307340.3	37	c.5620	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481524	0.44147	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79352	-1.26;-1.26	5.93	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (3);Laminin G domain (1);	0.174654	0.26875	N	0.022051	T	0.68833	0.3044	L	0.55103	1.725	0.36610	D	0.875133	B	0.19445	0.036	B	0.12837	0.008	T	0.63134	-0.6705	10	0.14656	T	0.56	.	9.6692	0.40002	0.1402:0.7891:0.0:0.0707	.	1874	O75445	USH2A_HUMAN	I	1874	ENSP00000305941:V1874I;ENSP00000355910:V1874I	ENSP00000305941:V1874I	V	-	1	0	USH2A	214313218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.968000	0.40500	0.811000	0.34303	0.655000	0.94253	GTT	-	superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Laminin_G		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	C	NM_007123	-		216246595	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	T	T	216246595	C	T	216246595	3	4	221	1	0	0	0	0	1	0	0	0	17043	536	19	1	10168	1	USH2A	1	216246595	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	53911422	216246595	33004026	7	17858											
ITGB6	3694	genome.wustl.edu	37	chr2	161052858	161052858	+	Frame_Shift_Del	DEL	A	A	-													cagggttttcgatgaagtttAattgacatcctttagctaaa							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr2:161052858delA	ENST00000283249.2	-	3	452	c.215delT	c.(214-216)ttafs	p.L72fs	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.L72fs|ITGB6_ENST00000428609.2_Frame_Shift_Del_p.L30fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.L72fs	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	72					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GATGAAGTTTAATTGACATCC	0.363																																																	0								ENSG00000115221						165	177	173					2																	161052858		2203	4300	6503	ITGB6	SO:0001589	frameshift_variant	0				HGNC		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.215delT	2.37:g.161052858delA	ENSP00000283249:p.Leu72fs	Somatic	0	63	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Frame_Shift_Del	DEL							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.L72fs	ENST00000283249.2	37	c.215	CCDS2212.1	2																																																																																			-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu		0.363	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	protein_coding	OTTHUMT00000255036.1	A	NM_000888			161052858	-1	no_errors	ENST00000283249	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	161052858	A	-	161052858	7	5	221	1	0	1	0	1	0	0	0	0	7901	372	13	0	2203	0	ITGB6	2	161052858	Frame_Shift_Del	DEL	A	TCGA-WK-A8XO-01A-11D-A37C-09		161052858	82146515	8	17859											
TTN	7273	genome.wustl.edu	37	chr2	179429661	179429661	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttaaatggatattgTacaataactgccttagaatc	7	6	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr2:179429661T>A	ENST00000591111.1	-	276	76499	c.76275A>T	c.(76273-76275)gtA>gtT	p.V25425V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.V18126V|TTN_ENST00000460472.2_Silent_p.V18001V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V18193V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V24498V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.V27066V			Q8WZ42	TITIN_HUMAN	titin	25425	Fibronectin type-III 84. {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)			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)			ATGGATATTGTACAATAACTG	0.403																																																	0								ENSG00000155657						114	110	111					2																	179429661		1856	4102	5958	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.76275A>T	2.37:g.179429661T>A		Somatic	0	57	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V24498	ENST00000591111.1	37	c.73494		2																																																																																			-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179429661	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179429661	T	A	179429661	2	1	221	1	0	0	0	0	0	0	0	1	16742	1625	57	5		5	TTN	2	179429661	Silent	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	18376803	179429661	63769712	9	17860											
FSIP2	401024	genome.wustl.edu	37	chr2	186656883	186656883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtagaaaacccaccaCctgagactcaaatacttaag	6	11	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr2:186656883C>A	ENST00000424728.1	+	16	5020	c.5020C>A	c.(5020-5022)Cct>Act	p.P1674T	AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.P1763T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1674										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACCCACCACCTGAGACTCA	0.353																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5020C>A	2.37:g.186656883C>A	ENSP00000401306:p.Pro1674Thr	Somatic	0	34	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.P1763T	ENST00000424728.1	37	c.5287		2	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078482	0.07184	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.42513	0.97;0.97	4.86	0.641	0.17759	.	0.289542	0.25854	N	0.027867	T	0.28267	0.0698	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.15037	-1.0451	8	0.59425	D	0.04	.	2.7641	0.05315	0.3116:0.4328:0.1628:0.0927	.	.	.	.	T	1763;1674;1674	ENSP00000344403:P1763T;ENSP00000401306:P1674T	ENSP00000321903:P1674T	P	+	1	0	FSIP2	186365128	0.014000	0.17966	0.098000	0.21074	0.004000	0.04260	0.742000	0.26216	0.221000	0.20879	-0.321000	0.08615	CCT	-	NULL		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	C	NM_173651	-		186656883	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.007	A	A	186656883	C	A	186656883	3	1	221	1	0	0	0	0	1	0	0	0	6077	507	18	3	5349	3	FSIP2	2	186656883	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	7227222	186656883	56542490	10	17861											
ZNF142	7701	genome.wustl.edu	37	chr2	219507332	219507332	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcggcgcagagcatgctGcttaagtgctgtctctgagc	14	10	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr2:219507332G>A	ENST00000449707.1	-	8	4328	c.3907C>T	c.(3907-3909)Cag>Tag	p.Q1303*	ZNF142_ENST00000411696.2_Nonsense_Mutation_p.Q1303*	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1303					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGCATGCTGCTTAAGTGCT	0.622																																					Colon(170;867 1942 8995 15834 18053)												0								ENSG00000115568						37	42	40					2																	219507332		2167	4262	6429	ZNF142	SO:0001587	stop_gained	0			-	HGNC	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3907C>T	2.37:g.219507332G>A	ENSP00000408643:p.Gln1303*	Somatic	0	60	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q92510	Nonsense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1303*	ENST00000449707.1	37	c.3907	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	G	48	13.894653	0.99769	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	.	.	.	5.48	5.48	0.80851	.	0.166832	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-38.8647	19.5498	0.95312	0.0:0.0:1.0:0.0	.	.	.	.	X	1303	.	ENSP00000398798:Q1303X	Q	-	1	0	ZNF142	219215576	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.925000	0.70062	2.860000	0.98153	0.609000	0.83330	CAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.622	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	protein_coding	OTTHUMT00000336833.1	G	NM_005081	-		219507332	-1	no_errors	ENST00000411696	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	219507332	G	A	219507332	4	1	221	1	0	0	0	0	0	1	0	0	17738	1328	46	2	1168	2	ZNF142	2	219507332	Nonsense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	32850449	219507332	23692041	11	17862											
CHRND	1144	genome.wustl.edu	37	chr2	233393680	233393680	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatcctgaaggcttcacAggtgctgggaacagccgcca	12	11	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr2:233393680A>G	ENST00000258385.3	+	6	650	c.618A>G	c.(616-618)acA>acG	p.T206T	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Intron|CHRND_ENST00000543200.1_Splice_Site_p.T191T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	206					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	AAGGCTTCACAGGTGCTGGGA	0.577																																																	0								ENSG00000135902						70	64	66					2																	233393680		2203	4300	6503	CHRND	SO:0001630	splice_region_variant	0			-	HGNC	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.619+1A>G	2.37:g.233393680A>G		Somatic	0	39	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	A8K661|B4DT92|Q52LH4	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T206	ENST00000258385.3	37	c.618	CCDS2494.1	2																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	protein_coding	OTTHUMT00000257038.2	A		-	Silent	233393680	1	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	SNP	1.000	G	G	233393680	A	G	233393680	5	3	221	1	0	0	0	0	0	0	1	0	3396	202	7	5	640	5	CHRND	2	233393680	Splice_Site	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	13886348	233393680	9805693	12	17863											
UBP1	7342	genome.wustl.edu	37	chr3	33481266	33481266	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccagttcctgcccgatGcccgagaggctggcgtcgaa	14	15	0	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr3:33481266G>T	ENST00000283629.3	-	1	604	c.75C>A	c.(73-75)ggC>ggA	p.G25G	UBP1_ENST00000447368.2_Silent_p.G25G|UBP1_ENST00000283628.5_Silent_p.G25G	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	25					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						CCTGCCCGATGCCCGAGAGGC	0.687																																																	0								ENSG00000153560						49	53	52					3																	33481266		2202	4297	6499	UBP1	SO:0001819	synonymous_variant	0			-	HGNC	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.75C>A	3.37:g.33481266G>T		Somatic	0	35	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Silent	SNP							pfam_CP2,superfamily_SAM/pointed	p.G25	ENST00000283629.3	37	c.75	CCDS2659.1	3																																																																																			-	NULL		0.687	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	protein_coding	OTTHUMT00000253249.2	G	NM_014517	-		33481266	-1	no_errors	ENST00000283628	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33481266	G	T	33481266	2	4	221	1	0	0	0	0	0	0	0	1	16902	1306	46	3		3	UBP1	3	33481266	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		33481266	164541164	13	17864											
MAP4	4134	genome.wustl.edu	37	chr3	47958559	47958559	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggccatctctgtttctttaGatggtgccatgtcagtagtc	11	9	3	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr3:47958559G>T	ENST00000360240.6	-	7	1276	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	MAP4_ENST00000395734.3_Missense_Mutation_p.S253Y|MAP4_ENST00000426837.2_Missense_Mutation_p.S270Y|MAP4_ENST00000383737.4_Missense_Mutation_p.S253Y	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	253	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGTTTCTTTAGATGGTGCCAT	0.463																																																	0								ENSG00000047849						329	285	300					3																	47958559		2203	4300	6503	MAP4	SO:0001583	missense	0			-	HGNC		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.758C>A	3.37:g.47958559G>T	ENSP00000353375:p.Ser253Tyr	Somatic	0	57	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP							pfam_MAP_tubulin-bd_rpt	p.S253Y	ENST00000360240.6	37	c.758	CCDS33750.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.069822|2.069822	0.36566|0.36566	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240	.|T;T;T;T	.|0.12147	.|2.71;3.0;3.0;2.99	4.57|4.57	1.78|1.78	0.24846|0.24846	.|.	.|.	.|.	.|.	.|.	T|T	0.18923|0.18923	0.0454|0.0454	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|D;P;P	.|0.53885	.|0.963;0.85;0.951	.|P;B;P	.|0.50617	.|0.646;0.325;0.59	T|T	0.09509|0.09509	-1.0671|-1.0671	5|9	.|0.59425	.|D	.|0.04	-0.1366|-0.1366	6.4916|6.4916	0.22119|0.22119	0.3084:0.0:0.6916:0.0|0.3084:0.0:0.6916:0.0	.|.	.|230;253;253	.|C9JFC3;P27816-6;P27816	.|.;.;MAP4_HUMAN	I|Y	222|253;253;270;253	.|ENSP00000373243:S253Y;ENSP00000379083:S253Y;ENSP00000407602:S270Y;ENSP00000353375:S253Y	.|ENSP00000353375:S253Y	L|S	-|-	1|2	2|0	MAP4|MAP4	47933563|47933563	0.059000|0.059000	0.20769|0.20769	0.030000|0.030000	0.17652|0.17652	0.800000|0.800000	0.45204|0.45204	0.657000|0.657000	0.24963|0.24963	0.258000|0.258000	0.21686|0.21686	0.591000|0.591000	0.81541|0.81541	CTA|TCT	-	NULL		0.463	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	protein_coding	OTTHUMT00000346085.1	G	NM_002375	-		47958559	-1	no_errors	ENST00000360240	ensembl	human	known	74_37	missense	SNP	0.051	T	T	47958559	G	T	47958559	3	4	221	1	0	0	0	0	1	0	0	0	9260	942	33	3	4111	3	MAP4	3	47958559	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	14477293	47958559	150063871	14	17865											
AMIGO3	29925	genome.wustl.edu	37	chr3	49756266	49756266	+	3'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtgcaagtagaggccgttCttgaggaaggccggcagcgc	16	9	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr3:49756266C>A	ENST00000480687.1	-	0	4118				RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.K211N|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.K211N			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAGGCCGTTCTTGAGGAAGG	0.652																																																	0								ENSG00000176020						44	46	46					3																	49756266		2203	4299	6502	AMIGO3	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2919G>T	3.37:g.49756266C>A		Somatic	0	94	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K6N5|Q9H7U3	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K211N	ENST00000480687.1	37	c.633	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737126	0.69304	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.02472	4.28;4.28	5.21	4.34	0.51931	.	0.055862	0.64402	D	0.000001	T	0.08537	0.0212	M	0.70275	2.135	0.80722	D	1	D	0.64830	0.994	P	0.57911	0.829	T	0.40136	-0.9579	10	0.18276	T	0.48	-27.101	8.9845	0.35986	0.0:0.767:0.1497:0.0833	.	211	Q86WK7	AMGO3_HUMAN	N	211	ENSP00000323096:K211N;ENSP00000439268:K211N	ENSP00000323096:K211N	K	-	3	2	AMIGO3	49731270	0.861000	0.29849	0.999000	0.59377	0.960000	0.62799	0.799000	0.27028	1.195000	0.43115	0.462000	0.41574	AAG	-	NULL		0.652	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	protein_coding	OTTHUMT00000350291.1	C	NM_013334	-		49756266	-1	no_errors	ENST00000320431	ensembl	human	known	74_37	missense	SNP	0.998	A	A	49756266	C	A	49756266	1	1	221	0	1	0	0	0	0	0	0	0	577	912	32	3		3	AMIGO3	3	49756266	3'UTR	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	1797707	49756266	148266164	15	17866											
KIAA2018	205717	genome.wustl.edu	37	chr3	113377201	113377201	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcattgctggtcacatcttCtcttgttgtttcaggaagca	9	9	4	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr3:113377201C>T	ENST00000478658.1	-	5	3345	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.E1110K			Q68DE3	K2018_HUMAN	KIAA2018	1110						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTCACATCTTCTCTTGTTGTT	0.443																																																	0								ENSG00000176542						146	137	140					3																	113377201		1989	4173	6162	KIAA2018	SO:0001583	missense	0			-	HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3328G>A	3.37:g.113377201C>T	ENSP00000420721:p.Glu1110Lys	Somatic	0	34	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E1110K	ENST00000478658.1	37	c.3328	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802376	0.70682	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15834	2.39;2.39	4.9	4.9	0.64082	.	0.106321	0.41294	N	0.000917	T	0.31606	0.0802	L	0.29908	0.895	0.52501	D	0.999957	D	0.69078	0.997	D	0.75020	0.985	T	0.05022	-1.0911	10	0.59425	D	0.04	-11.3644	18.2797	0.90094	0.0:1.0:0.0:0.0	.	1110	Q68DE3	K2018_HUMAN	K	1110	ENSP00000320794:E1110K;ENSP00000420721:E1110K	ENSP00000320794:E1110K	E	-	1	0	KIAA2018	114859891	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.105000	0.64591	2.560000	0.86352	0.561000	0.74099	GAA	-	NULL		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	C	NM_001009899	-		113377201	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	SNP	1.000	T	T	113377201	C	T	113377201	3	4	221	1	0	0	0	0	1	0	0	0	8270	922	32	2	3413	2	KIAA2018	3	113377201	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	63620935	113377201	84645229	16	17867											
PPP2R2C	5522	genome.wustl.edu	37	chr4	6374262	6374262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggatactgaagctcctgtCggtgatggccaggtgccaga	14	9	0	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:6374262C>T	ENST00000382599.4	-	5	829	c.613G>A	c.(613-615)Gac>Aac	p.D205N	PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.D188N|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.D198N|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.D198N|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.D205N			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	205					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AAGCTCCTGTCGGTGATGGCC	0.582																																																	0								ENSG00000074211						144	116	126					4																	6374262		2203	4300	6503	PPP2R2C	SO:0001583	missense	0			-	HGNC	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.613G>A	4.37:g.6374262C>T	ENSP00000372042:p.Asp205Asn	Somatic	0	66	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.D205N	ENST00000382599.4	37	c.613		4	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661985	0.47572	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.34472	1.36;1.37;1.37;1.37;1.37	4.18	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	L	0.50993	1.605	0.80722	D	1	B;B;B;B;B	0.26318	0.009;0.146;0.016;0.009;0.007	B;B;B;B;B	0.20577	0.007;0.03;0.007;0.007;0.007	T	0.10520	-1.0626	10	0.21540	T	0.41	-54.1694	16.0314	0.80579	0.0:1.0:0.0:0.0	.	198;301;205;188;205	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	N	205;198;188;205;198	ENSP00000335083:D205N;ENSP00000423649:D198N;ENSP00000422374:D188N;ENSP00000372042:D205N;ENSP00000425247:D198N	ENSP00000335083:D205N	D	-	1	0	PPP2R2C	6425163	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.333000	0.65917	2.327000	0.79052	0.462000	0.41574	GAC	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.582	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	protein_coding	OTTHUMT00000206889.2	C	NM_181876	-		6374262	-1	no_errors	ENST00000335585	ensembl	human	known	74_37	missense	SNP	1.000	T	T	6374262	C	T	6374262	3	4	221	1	0	0	0	0	1	0	0	0	12391	884	31	1	750	1	PPP2R2C	4	6374262	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09		6374262	184780014	17	17868											
ABLIM2	84448	genome.wustl.edu	37	chr4	8079400	8079400	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcacagctgtcacagcgGatgccgaacttggcgtgata	11	11	2	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:8079400G>A	ENST00000341937.5	-	6	694	c.630C>T	c.(628-630)atC>atT	p.I210I	ABLIM2_ENST00000428004.2_Silent_p.I210I|ABLIM2_ENST00000545242.1_Silent_p.I210I|ABLIM2_ENST00000296372.8_Silent_p.I210I|ABLIM2_ENST00000546334.1_Silent_p.I210I|ABLIM2_ENST00000361737.5_Silent_p.I210I|ABLIM2_ENST00000505872.1_Silent_p.I210I|ABLIM2_ENST00000361581.5_Silent_p.I210I|ABLIM2_ENST00000407564.3_Silent_p.I210I|ABLIM2_ENST00000447017.2_Silent_p.I210I|ABLIM2_ENST00000318888.4_5'UTR	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	210	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.|LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGTCACAGCGGATGCCGAACT	0.652																																																	0								ENSG00000163995						38	41	40					4																	8079400		2124	4238	6362	ABLIM2	SO:0001819	synonymous_variant	0			-	HGNC	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.630C>T	4.37:g.8079400G>A		Somatic	0	162	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP							pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.I210	ENST00000341937.5	37	c.630	CCDS47013.1	4																																																																																			-	pfscan_Znf_LIM		0.652	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	protein_coding	OTTHUMT00000358862.2	G	NM_001130083	-		8079400	-1	no_errors	ENST00000447017	ensembl	human	known	74_37	silent	SNP	0.957	A	A	8079400	G	A	8079400	2	1	221	1	0	0	0	0	0	0	0	1	95	1164	41	2		2	ABLIM2	4	8079400	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	1705138	8079400	183074876	18	17869											
SULT1B1	27284	genome.wustl.edu	37	chr4	70596224	70596224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaagtatttacctttaCgcataaaaggggatttgcta	8	7	0	0	rs142990488	byFrequency	TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:70596224C>T	ENST00000310613.3	-	7	1070	c.773G>A	c.(772-774)cGt>cAt	p.R258H		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	258					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						TTTACCTTTACGCATAAAAGG	0.353													C|||	5	0.000998403	0	0	5008	,	,		16912	0.002		0	False		,,,				2504	0.0031																0								ENSG00000173597	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	129	123	125		773	3.4	1	4	dbSNP_134	125	0,8600		0,0,4300	yes	missense	SULT1B1	NM_014465.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	258/297	70596224	1,13005	2203	4300	6503	SULT1B1	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.773G>A	4.37:g.70596224C>T	ENSP00000308770:p.Arg258His	Somatic	0	47	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP							pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R258H	ENST00000310613.3	37	c.773	CCDS3530.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.16	2.452004	0.43531	2.27E-4	0.0	ENSG00000173597	ENST00000310613	T	0.03181	4.02	4.27	3.43	0.39272	Sulfotransferase domain (1);	0.397593	0.18360	N	0.143598	T	0.28797	0.0714	H	0.98111	4.15	0.41988	D	0.99083	D	0.89917	1.0	D	0.97110	1.0	T	0.32134	-0.9918	10	0.87932	D	0	.	10.1702	0.42904	0.0:0.8991:0.0:0.1009	.	258	O43704	ST1B1_HUMAN	H	258	ENSP00000308770:R258H	ENSP00000308770:R258H	R	-	2	0	SULT1B1	70630813	1.000000	0.71417	0.997000	0.53966	0.171000	0.22731	5.795000	0.69074	0.937000	0.37394	-0.373000	0.07131	CGT	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	protein_coding	OTTHUMT00000251563.2	C	NM_014465	rs142990488		70596224	-1	no_errors	ENST00000310613	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70596224	C	T	70596224	3	4	221	1	0	0	0	0	1	0	0	0	15383	536	19	1	125	1	SULT1B1	4	70596224	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	62516824	70596224	120558052	19	17870											
SMR3B	10879	genome.wustl.edu	37	chr4	71255546	71255546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccagggatatttccacCaccccctcctcaaccctaag	6	17	1	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:71255546C>A	ENST00000304915.3	+	3	370	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	SMR3B_ENST00000504825.1_Missense_Mutation_p.P74Q	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	74	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				ATATTTCCACCACCCCCTCCT	0.582																																																	0								ENSG00000171201						119	111	114					4																	71255546		2203	4300	6503	SMR3B	SO:0001583	missense	0			-	HGNC	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"proline rich 3", "submaxillary gland androgen regulated protein 3 homolog B (mouse)"	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.221C>A	4.37:g.71255546C>A	ENSP00000302400:p.Pro74Gln	Somatic	0	160	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	34	37.04	B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP							NULL	p.P74Q	ENST00000304915.3	37	c.221	CCDS3540.1	4	.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414438	0.04766	.	.	ENSG00000171201	ENST00000504825;ENST00000304915	T;T	0.56611	0.45;0.45	1.02	1.02	0.19986	.	.	.	.	.	T	0.64549	0.2608	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.49606	-0.8922	8	0.87932	D	0	.	5.3705	0.16136	0.0:1.0:0.0:0.0	.	74	P02814	SMR3B_HUMAN	Q	74	ENSP00000423138:P74Q;ENSP00000302400:P74Q	ENSP00000302400:P74Q	P	+	2	0	SMR3B	71290135	0.004000	0.15560	0.045000	0.18777	0.022000	0.10575	0.632000	0.24583	0.881000	0.35993	0.205000	0.17691	CCA	-	NULL		0.582	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3B	protein_coding	OTTHUMT00000251552.2	C	NM_006685	-		71255546	1	no_errors	ENST00000304915	ensembl	human	known	74_37	missense	SNP	0.047	A	A	71255546	C	A	71255546	3	1	221	1	0	0	0	0	1	0	0	0	14820	594	21	3	227	3	SMR3B	4	71255546	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	659322	71255546	119898730	20	17871											
MOBKL1A	92597	genome.wustl.edu	37	chr4	71844995	71844995	+	Frame_Shift_Del	DEL	T	T	-													tacatctttcaagcactttaTtttttttgtccaggtaagtt							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:71844995delT	ENST00000309395.2	+	5	761	c.560delT	c.(559-561)attfs	p.I187fs	MOB1B_ENST00000396051.2_Frame_Shift_Del_p.I192fs|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	187					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										AAGCACTTTATTTTTTTTGTC	0.398																																																	0								ENSG00000173542						112	117	115					4																	71844995		2203	4300	6503	MOB1B	SO:0001589	frameshift_variant	0				HGNC	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"MOB kinase activators"	29801	protein-coding gene	gene with protein product	"Mob4A protein"	609282	"MOB1, Mps One Binder kinase activator-like 1A (yeast)", "MOB1 Mps One Binder homolog B (yeast)"	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.560delT	4.37:g.71844995delT	ENSP00000310189:p.Ile187fs	Somatic	0	65	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B2R8U6|B4DRY3|Q8IY23	Frame_Shift_Del	DEL							pfam_Mob1_phocein,superfamily_Mob1_phocein	p.F189fs	ENST00000309395.2	37	c.560	CCDS34002.1	4																																																																																			-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.398	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	protein_coding	OTTHUMT00000362634.1	T	NM_173468			71844995	1	no_errors	ENST00000309395	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	71844995	T	-	71844995	7	5	221	1	0	1	0	1	0	0	0	0	9684	1493	52	0	578	0	MOBKL1A	4	71844995	Frame_Shift_Del	DEL	T	TCGA-WK-A8XO-01A-11D-A37C-09	589449	71844995	119309281	21	17872											
ANK2	287	genome.wustl.edu	37	chr4	114177028	114177028	+	Frame_Shift_Del	DEL	C	C	-													cacgttgctgcgcactgtggCcactaccgtgtaaccaaact							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:114177028delC	ENST00000357077.4	+	11	1181	c.1128delC	c.(1126-1128)ggcfs	p.G376fs	ANK2_ENST00000506722.1_Frame_Shift_Del_p.G355fs|ANK2_ENST00000264366.6_Frame_Shift_Del_p.G376fs|ANK2_ENST00000394537.3_Frame_Shift_Del_p.G376fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	376					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)		CGCACTGTGGCCACTACCGTG	0.512																																																	0								ENSG00000145362						167	147	154					4																	114177028		2203	4300	6503	ANK2	SO:0001589	frameshift_variant	0				HGNC	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.1128delC	4.37:g.114177028delC	ENSP00000349588:p.Gly376fs	Somatic	0	47	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.H377fs	ENST00000357077.4	37	c.1128	CCDS3702.1	4																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	C	NM_001148			114177028	1	no_errors	ENST00000357077	ensembl	human	known	74_37	frame_shift_del	DEL	0.549	-	-	114177028	C	-	114177028	7	5	221	1	0	1	0	1	0	0	0	0	621	726	26	0	1195	0	ANK2	4	114177028	Frame_Shift_Del	DEL	C	TCGA-WK-A8XO-01A-11D-A37C-09	42332033	114177028	76977248	22	17873											
C4orf41	60684	genome.wustl.edu	37	chr4	184618903	184618904	+	Frame_Shift_Ins	INS	-	-	A													acctcttaagtgcctcacccINStgggccctcactattgtttc							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr4:184618903_184618904insA	ENST00000334690.6	+	25	2968_2969	c.2766_2767insA	c.(2767-2769)tggfs	p.W923fs	TRAPPC11_ENST00000357207.4_Frame_Shift_Ins_p.W923fs|TRAPPC11_ENST00000512476.1_Frame_Shift_Ins_p.W529fs	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	923					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GTGCCTCACCCTGGGCCCTCAC	0.495																																																	0								ENSG00000168538																																			TRAPPC11	SO:0001589	frameshift_variant	0				HGNC		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	Exception_encountered	4.37:g.184618903_184618904insA	ENSP00000335371:p.Trp923fs	Somatic	0	47	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Frame_Shift_Ins	INS							pfam_Foie-gras_1,pfam_DUF1683_C	p.W922fs	ENST00000334690.6	37	c.2766_2767	CCDS34112.1	4																																																																																			-	NULL		0.495	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	protein_coding	OTTHUMT00000361654.2	-	NM_021942			184618904	1	no_errors	ENST00000334690	ensembl	human	known	74_37	frame_shift_ins	INS	0.002:0.999	A	A	184618904	-	A	184618903	7	5	221	1	0	1	1	0	0	0	0	0	2272	668	24	0	2860	0	C4orf41	4	184618903	Frame_Shift_Ins	INS	-	TCGA-WK-A8XO-01A-11D-A37C-09	70441875	184618903	6535373	23	17874											
LRRC14B	389257	genome.wustl.edu	37	chr5	192413	192413	+	Frame_Shift_Del	DEL	C	C	-													ccaccaaggcctttgatgcaCcccccacctacgcctccact							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:192413delC	ENST00000328278.3	+	1	788	c.760delC	c.(760-762)cccfs	p.P255fs		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	255										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CTTTGATGCACCCCCCACCTA	0.697																																																	0								ENSG00000185028			57,3913		26,5,1954	15	19	17			-10.5	0	5		17	79,7889		35,9,3940	no	frameshift	LRRC14B	NM_001080478.1		61,14,5894	A1A1,A1R,RR		0.9915,1.4358,1.1392			192413	136,11802	2091	4183	6274	LRRC14B	SO:0001589	frameshift_variant	0				HGNC		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.760delC	5.37:g.192413delC	ENSP00000327675:p.Pro255fs	Somatic	0	33	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43		Frame_Shift_Del	DEL							NULL	p.T256fs	ENST00000328278.3	37	c.760	CCDS47184.1	5																																																																																			-	NULL		0.697	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	protein_coding	OTTHUMT00000365393.2	C	NM_001080478			192413	1	no_errors	ENST00000328278	ensembl	human	novel	74_37	frame_shift_del	DEL	0.004	-	-	192413	C	-	192413	7	5	221	1	0	1	0	1	0	0	0	0	8971	507	18	0	762	0	LRRC14B	5	192413	Frame_Shift_Del	DEL	C	TCGA-WK-A8XO-01A-11D-A37C-09		192413	180722847	24	17875											
TRIO	7204	genome.wustl.edu	37	chr5	14465697	14465697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccagctccgaaacacCgagtgcagccgagctcgtca	9	18	1	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:14465697C>T	ENST00000344204.4	+	37	5735	c.5711C>T	c.(5710-5712)cCg>cTg	p.P1904L	TRIO_ENST00000537187.1_Missense_Mutation_p.P1904L|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1904					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)					TCCGAAACACCGAGTGCAGCC	0.522																																																	0								ENSG00000038382						80	77	78					5																	14465697		2203	4300	6503	TRIO	SO:0001583	missense	0			-	HGNC	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.5711C>T	5.37:g.14465697C>T	ENSP00000339299:p.Pro1904Leu	Somatic	0	67	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P1904L	ENST00000344204.4	37	c.5711	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962390	0.74016	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.65916	-0.18;-0.14	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;P;D	0.87578	0.998;0.688;0.998	T	0.77960	-0.2391	10	0.66056	D	0.02	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1904;1904;1904	D3DTD2;O75962-5;O75962	.;.;TRIO_HUMAN	L	1904;1904;1591	ENSP00000339299:P1904L;ENSP00000446348:P1904L	ENSP00000339299:P1904L	P	+	2	0	TRIO	14518697	1.000000	0.71417	0.598000	0.28837	0.861000	0.49209	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CCG	-	NULL		0.522	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	C	NM_007118	-		14465697	1	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14465697	C	T	14465697	3	4	221	1	0	0	0	0	1	0	0	0	16559	652	23	1	5857	1	TRIO	5	14465697	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	14273284	14465697	166449563	25	17876											
CDH18	1016	genome.wustl.edu	37	chr5	19473754	19473754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggtgaccacgttctcccGtacatcctcttctgaaatga	7	12	3	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:19473754G>A	ENST00000507958.1	-	15	2944	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	CDH18_ENST00000274170.4_Missense_Mutation_p.R652W|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.R652W			Q13634	CAD18_HUMAN	cadherin 18, type 2	652					adherens junction organization (GO:0034332)|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)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGTTCTCCCGTACATCCTCT	0.478																																																	0								ENSG00000145526						159	165	163					5																	19473754		2203	4300	6503	CDH18	SO:0001583	missense	0			-	HGNC	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1954C>T	5.37:g.19473754G>A	ENSP00000425093:p.Arg652Trp	Somatic	0	69	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R652W	ENST00000507958.1	37	c.1954	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690107	0.68271	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.84589	-1.87;-1.87;-1.87	6.16	3.01	0.34805	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.94771	3.58	0.47949	D	0.999552	D	0.89917	1.0	D	0.70487	0.969	D	0.95553	0.8622	9	.	.	.	.	15.5988	0.76609	0.0:0.0:0.6347:0.3653	.	652	Q13634	CAD18_HUMAN	W	652	ENSP00000371710:R652W;ENSP00000425093:R652W;ENSP00000274170:R652W	.	R	-	1	2	CDH18	19509511	0.032000	0.19561	0.990000	0.47175	0.965000	0.64279	0.309000	0.19332	0.860000	0.35481	0.650000	0.86243	CGG	-	pfam_Cadherin_cytoplasmic-dom		0.478	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	protein_coding	OTTHUMT00000366747.1	G	NM_004934	-		19473754	-1	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	SNP	0.827	A	A	19473754	G	A	19473754	3	1	221	1	0	0	0	0	1	0	0	0	3105	1144	40	1	422	1	CDH18	5	19473754	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	5008057	19473754	161441506	26	17877											
C5orf42	65250	genome.wustl.edu	37	chr5	37227487	37227487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcaagttcagtcctttgCcttttggctaaagaagaaaa	8	8	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:37227487C>T	ENST00000508244.1	-	10	1472	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	C5orf42_ENST00000425232.2_Missense_Mutation_p.G460D|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	460						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGTCCTTTGCCTTTTGGCTA	0.353																																																	0								ENSG00000197603						61	55	57					5																	37227487		692	1591	2283	C5orf42	SO:0001583	missense	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.1379G>A	5.37:g.37227487C>T	ENSP00000421690:p.Gly460Asp	Somatic	0	90	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP							superfamily_Quino_amine_DH_bsu	p.G460D	ENST00000508244.1	37	c.1379	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	0.156	-1.085924	0.01873	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.21932	1.98;1.98	5.44	4.08	0.47627	.	0.791079	0.10411	U	0.677938	T	0.17619	0.0423	L	0.38838	1.175	0.20489	N	0.999893	B	0.17268	0.021	B	0.18263	0.021	T	0.27905	-1.0060	10	0.28530	T	0.3	1.0074	8.9609	0.35847	0.0:0.8532:0.0:0.1468	.	460	E9PH94	.	D	460	ENSP00000421690:G460D;ENSP00000389014:G460D	ENSP00000389014:G460D	G	-	2	0	C5orf42	37263244	0.005000	0.15991	0.077000	0.20336	0.037000	0.13140	0.932000	0.28884	0.820000	0.34516	0.591000	0.81541	GGC	-	NULL		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	C	NM_023073	-		37227487	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	SNP	0.004	T	T	37227487	C	T	37227487	3	4	221	1	0	0	0	0	1	0	0	0	2303	739	26	2	8382	2	C5orf42	5	37227487	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	17753733	37227487	143687773	27	17878											
C6	729	genome.wustl.edu	37	chr5	41160304	41160304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtgccactctgacacaCacacagacattcagtccctg	7	14	2	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:41160304C>T	ENST00000263413.3	-	11	1888	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Missense_Mutation_p.V542M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	542	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCTGACACACACACAGACAT	0.463																																																	0								ENSG00000039537						172	162	165					5																	41160304		2203	4300	6503	C6	SO:0001583	missense	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1624G>A	5.37:g.41160304C>T	ENSP00000263413:p.Val542Met	Somatic	0	55	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP							pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.V542M	ENST00000263413.3	37	c.1624	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851033	0.51270	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.62105	0.05;0.05	6.06	4.27	0.50696	.	0.347453	0.30979	N	0.008493	T	0.62392	0.2424	L	0.34521	1.04	0.45867	D	0.998725	D	0.62365	0.991	D	0.64410	0.925	T	0.62599	-0.6820	10	0.52906	T	0.07	-8.948	3.9597	0.09405	0.1234:0.5067:0.2388:0.1311	.	542	P13671	CO6_HUMAN	M	542	ENSP00000338861:V542M;ENSP00000263413:V542M	ENSP00000263413:V542M	V	-	1	0	C6	41196061	0.789000	0.28775	0.993000	0.49108	0.415000	0.31203	0.201000	0.17276	0.881000	0.35993	0.655000	0.94253	GTG	-	prints_MAC_perforin		0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	C		-		41160304	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	SNP	0.977	T	T	41160304	C	T	41160304	3	4	221	1	0	0	0	0	1	0	0	0	2317	478	17	2	1212	2	C6	5	41160304	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	3932817	41160304	139754956	28	17879											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65349674	65349674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccacatgacagtgattGttctgttgacttaggtattt	9	6	1	4	rs538916835		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:65349674G>T	ENST00000284037.5	+	21	2917	c.2528G>T	c.(2527-2529)tGt>tTt	p.C843F	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.C843F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.C843F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.C843F|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.C843F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.C843F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.C843F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.C839F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.C843F|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	843					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GACAGTGATTGTTCTGTTGAC	0.393																																																	0								ENSG00000112851						95	97	96					5																	65349674		2203	4300	6503	ERBB2IP	SO:0001583	missense	0			-	HGNC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2528G>T	5.37:g.65349674G>T	ENSP00000284037:p.Cys843Phe	Somatic	0	42	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.C843F	ENST00000284037.5	37	c.2528	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	0.421	-0.908305	0.02434	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.36878	1.43;1.42;1.42;1.62;1.23;1.49;1.42;1.46;1.23	5.69	2.92	0.33932	.	0.468250	0.26133	N	0.026156	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.22211	0.039;0.023;0.023;0.04;0.007;0.039;0.066	B;B;B;B;B;B;B	0.29862	0.108;0.05;0.05;0.05;0.012;0.074;0.079	T	0.24048	-1.0171	10	0.59425	D	0.04	.	10.7011	0.45928	0.0:0.6717:0.2593:0.069	.	843;843;843;839;843;843;843	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	F	843;843;843;843;843;843;839;843;843	ENSP00000284037:C843F;ENSP00000370330:C843F;ENSP00000370326:C843F;ENSP00000370323:C843F;ENSP00000370322:C843F;ENSP00000370325:C843F;ENSP00000422766:C839F;ENSP00000426632:C843F;ENSP00000422015:C843F	ENSP00000284037:C843F	C	+	2	0	ERBB2IP	65385430	0.950000	0.32346	0.002000	0.10522	0.035000	0.12851	1.860000	0.39428	0.321000	0.23259	-0.344000	0.07964	TGT	-	NULL		0.393	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	protein_coding	OTTHUMT00000215070.1	G	NM_018695	-		65349674	1	no_errors	ENST00000284037	ensembl	human	known	74_37	missense	SNP	0.006	T	T	65349674	G	T	65349674	3	4	221	1	0	0	0	0	1	0	0	0	5209	1377	48	3	2602	3	ERBB2IP	5	65349674	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	24189370	65349674	115565586	29	17880											
MSH3	4437	genome.wustl.edu	37	chr5	79968152	79968152	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacagactgtttgttcatgtAcgccgcctggtggcaaaagg	12	10	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:79968152A>T	ENST00000265081.6	+	5	962	c.882A>T	c.(880-882)gtA>gtT	p.V294V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	294	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTGTTCATGTACGCCGCCTGG	0.413								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318						105	100	102					5																	79968152		2203	4300	6503	MSH3	SO:0001819	synonymous_variant	0			-	HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.882A>T	5.37:g.79968152A>T		Somatic	0	87	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.V294	ENST00000265081.6	37	c.882	CCDS34195.1	5																																																																																			-	pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N		0.413	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	A	NM_002439	-		79968152	1	no_errors	ENST00000265081	ensembl	human	known	74_37	silent	SNP	0.004	T	T	79968152	A	T	79968152	2	4	221	1	0	0	0	0	0	0	0	1	9873	378	14	5		5	MSH3	5	79968152	Silent	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	14618478	79968152	100947108	30	17881											
VCAN	1462	genome.wustl.edu	37	chr5	82837721	82837721	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacaactgccgatgaaattGaattagaaggtgctacacag	9	7	0	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:82837721G>T	ENST00000265077.3	+	8	9464	c.8899G>T	c.(8899-8901)Gaa>Taa	p.E2967*	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1980*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2967	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)	p.E2967*(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)	CGATGAAATTGAATTAGAAGG	0.468																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000038427						72	75	74					5																	82837721		2203	4300	6503	VCAN	SO:0001587	stop_gained	0			-	HGNC	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.8899G>T	5.37:g.82837721G>T	ENSP00000265077:p.Glu2967*	Somatic	0	63	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP							pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.E2967*	ENST00000265077.3	37	c.8899	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	51	18.565711	0.99907	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	.	.	.	5.87	-4.05	0.03998	.	0.989663	0.08234	N	0.977035	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.8903	0.24226	0.3435:0.335:0.3215:0.0	.	.	.	.	X	2967;1980	.	ENSP00000265077:E2967X	E	+	1	0	VCAN	82873477	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.702000	0.05069	-0.701000	0.05063	-0.301000	0.09380	GAA	-	NULL		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	G	NM_004385	-		82837721	1	no_errors	ENST00000265077	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	82837721	G	T	82837721	4	4	221	1	0	0	0	0	0	1	0	0	17145	1291	45	3	8925	3	VCAN	5	82837721	Nonsense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	2869569	82837721	98077539	31	17882											
PCDHA5	56143	genome.wustl.edu	37	chr5	140202596	140202596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgctggacagcgccctGgaccgcgagagcgtgtcggt	17	11	0	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:140202596G>A	ENST00000529859.1	+	1	1236	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.L412L|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.L412L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	412	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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCGCCCTGGACCGCGAGA	0.647																																																	0								ENSG00000204965						147	140	142					5																	140202596		2203	4300	6503	PCDHA5	SO:0001819	synonymous_variant	0			-	HGNC	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1236G>A	5.37:g.140202596G>A		Somatic	1	165	0.6		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	35.29	O75284|Q8N4R3	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L412	ENST00000529859.1	37	c.1236	CCDS54917.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	protein_coding	OTTHUMT00000372883.2	G	NM_018908	-		140202596	1	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	SNP	1.000	A	A	140202596	G	A	140202596	2	1	221	1	0	0	0	0	0	0	0	1	11529	1335	47	2		2	PCDHA5	5	140202596	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	57364875	140202596	40712664	32	17883											
PCDHB16	57717	genome.wustl.edu	37	chr5	140562897	140562897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcagattccagagaacAgtcctcttggctccctggtt	10	11	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:140562897A>G	ENST00000361016.2	+	1	1918	c.763A>G	c.(763-765)Agt>Ggt	p.S255G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	255	Cadherin 3. {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)			TCCAGAGAACAGTCCTCTTGG	0.507																																																	0								ENSG00000196963						74	72	73					5																	140562897		2203	4300	6503	PCDHB16	SO:0001583	missense	0			-	HGNC	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.763A>G	5.37:g.140562897A>G	ENSP00000354293:p.Ser255Gly	Somatic	0	47	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S255G	ENST00000361016.2	37	c.763	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846547	0.32606	.	.	ENSG00000196963	ENST00000361016	T	0.01767	4.65	4.75	3.56	0.40772	Cadherin (4);Cadherin-like (1);	0.182510	0.26871	N	0.022079	T	0.07458	0.0188	M	0.86097	2.795	0.23653	N	0.997192	P	0.46020	0.871	P	0.54431	0.752	T	0.04781	-1.0927	10	0.46703	T	0.11	.	9.3871	0.38349	0.7159:0.0:0.0:0.2841	.	255	Q9NRJ7	PCDBG_HUMAN	G	255	ENSP00000354293:S255G	ENSP00000354293:S255G	S	+	1	0	PCDHB16	140543081	0.000000	0.05858	0.048000	0.18961	0.017000	0.09413	0.196000	0.17176	0.631000	0.30412	0.482000	0.46254	AGT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.507	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	protein_coding	OTTHUMT00000251800.1	A	NM_020957	-		140562897	1	no_errors	ENST00000361016	ensembl	human	known	74_37	missense	SNP	0.820	G	G	140562897	A	G	140562897	3	3	221	1	0	0	0	0	1	0	0	0	11543	188	7	5	765	5	PCDHB16	5	140562897	Missense_Mutation	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	360301	140562897	40352363	33	17884											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140711527	140711527	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatcacaataacagcaataGaccaaggaactccagctcta	5	12	2	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr5:140711527G>T	ENST00000517417.1	+	1	1276	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D426Y	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	426	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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCAATAGACCAAGGAAC	0.393																																																	0								ENSG00000204956						110	106	107					5																	140711527		2203	4300	6503	PCDHGA1	SO:0001583	missense	0			-	HGNC	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1276G>T	5.37:g.140711527G>T	ENSP00000431083:p.Asp426Tyr	Somatic	0	46	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q2M273|Q9Y5D6	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D426Y	ENST00000517417.1	37	c.1276	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520246	0.64747	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.68903	-0.36;-0.36	4.0	4.0	0.46444	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000140	D	0.89382	0.6699	H	0.99211	4.47	0.43426	D	0.995589	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94086	0.7348	10	0.87932	D	0	.	16.2823	0.82697	0.0:0.0:1.0:0.0	.	426;426	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Y	426	ENSP00000431083:D426Y;ENSP00000367345:D426Y	ENSP00000367345:D426Y	D	+	1	0	PCDHGA1	140691711	1.000000	0.71417	0.993000	0.49108	0.901000	0.52897	9.601000	0.98297	2.242000	0.73789	0.655000	0.94253	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	G	NM_018912	-		140711527	1	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	SNP	0.995	T	T	140711527	G	T	140711527	3	4	221	1	0	0	0	0	1	0	0	0	11552	942	33	3	1278	3	PCDHGA1	5	140711527	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	148630	140711527	40203733	34	17885											
MDN1	23195	genome.wustl.edu	37	chr6	90406215	90406215	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggccactcacatcccAgggacttgctctccagctgc	12	15	2	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr6:90406215A>T	ENST00000369393.3	-	60	9362	c.9247T>A	c.(9247-9249)Tgg>Agg	p.W3083R	MDN1_ENST00000428876.1_Missense_Mutation_p.W3083R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3083					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCACATCCCAGGGACTTGCT	0.517																																																	0								ENSG00000112159						76	74	74					6																	90406215		2203	4300	6503	MDN1	SO:0001583	missense	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9247T>A	6.37:g.90406215A>T	ENSP00000358400:p.Trp3083Arg	Somatic	0	71	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	O15019|Q5T794	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.W3083R	ENST00000369393.3	37	c.9247	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535053	0.45073	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57412	-0.7816	10	0.32370	T	0.25	.	15.5076	0.75753	1.0:0.0:0.0:0.0	.	3083	Q9NU22	MDN1_HUMAN	R	3083	ENSP00000358400:W3083R;ENSP00000413970:W3083R	ENSP00000358400:W3083R	W	-	1	0	MDN1	90462936	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.559000	0.67326	2.067000	0.61834	0.533000	0.62120	TGG	-	pirsf_Midasin		0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	A		-		90406215	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	SNP	0.999	T	T	90406215	A	T	90406215	3	4	221	1	0	0	0	0	1	0	0	0	9417	188	7	5	7715	5	MDN1	6	90406215	Missense_Mutation	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09		90406215	80708852	35	17886											
AMD1	262	genome.wustl.edu	37	chr6	111208730	111208730	+	Frame_Shift_Del	DEL	A	A	-													ctgagtgggacatacttttgAaggatgtgcaatgttcaatc							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr6:111208730delA	ENST00000368885.3	+	2	469	c.133delA	c.(133-135)aagfs	p.K45fs	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368876.1_5'UTR	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	45					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CATACTTTTGAAGGATGTGCA	0.343																																																	0								ENSG00000123505						177	173	174					6																	111208730		2203	4300	6503	AMD1	SO:0001589	frameshift_variant	0				HGNC	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.133delA	6.37:g.111208730delA	ENSP00000357880:p.Lys45fs	Somatic	0	72	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Frame_Shift_Del	DEL							pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.K45fs	ENST00000368885.3	37	c.133	CCDS5086.1	6																																																																																			-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.343	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	protein_coding	OTTHUMT00000041816.1	A				111208730	1	no_errors	ENST00000368885	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	111208730	A	-	111208730	7	5	221	1	0	1	0	1	0	0	0	0	566	247	9	0	139	0	AMD1	6	111208730	Frame_Shift_Del	DEL	A	TCGA-WK-A8XO-01A-11D-A37C-09	20802515	111208730	59906337	36	17887											
HDAC9	9734	genome.wustl.edu	37	chr7	18688256	18688256	+	Frame_Shift_Del	DEL	C	C	-													tcattcaacagcaacaccagCaattcttggagaagcagaag							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr7:18688256delC	ENST00000432645.2	+	10	1408	c.1408delC	c.(1408-1410)caafs	p.Q470fs	HDAC9_ENST00000417496.2_Frame_Shift_Del_p.Q468fs|HDAC9_ENST00000405010.3_Frame_Shift_Del_p.Q470fs|HDAC9_ENST00000456174.2_Frame_Shift_Del_p.Q442fs|HDAC9_ENST00000406451.4_Frame_Shift_Del_p.Q470fs|HDAC9_ENST00000401921.1_Frame_Shift_Del_p.Q429fs|HDAC9_ENST00000406072.1_Frame_Shift_Del_p.Q457fs|HDAC9_ENST00000428307.2_Frame_Shift_Del_p.Q426fs|HDAC9_ENST00000524023.1_Frame_Shift_Del_p.Q393fs|HDAC9_ENST00000441542.2_Frame_Shift_Del_p.Q473fs	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	470					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAACACCAGCAATTCTTGGA	0.498																																																	0								ENSG00000048052						51	53	52					7																	18688256		2052	4190	6242	HDAC9	SO:0001589	frameshift_variant	0				HGNC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1408delC	7.37:g.18688256delC	ENSP00000410337:p.Gln470fs	Somatic	0	63	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Frame_Shift_Del	DEL							pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.Q473fs	ENST00000432645.2	37	c.1417	CCDS47555.1	7																																																																																			-	pirsf_Histone_deAcase_II_euk		0.498	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	protein_coding	OTTHUMT00000376176.1	C				18688256	1	no_errors	ENST00000441542	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	18688256	C	-	18688256	7	5	221	1	0	1	0	1	0	0	0	0	7016	711	25	0	1455	0	HDAC9	7	18688256	Frame_Shift_Del	DEL	C	TCGA-WK-A8XO-01A-11D-A37C-09		18688256	140450407	37	17888											
C7orf25	79020	genome.wustl.edu	37	chr7	42950004	42950004	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgttgtaaaatgcaaagaTgatgtgagggttgctatact	11	4	0	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr7:42950004T>A	ENST00000350427.4	-	2	771	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.I166F|C7orf25_ENST00000431882.2_Missense_Mutation_p.I224F|C7orf25_ENST00000447342.1_Missense_Mutation_p.I166F			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	166										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						AATGCAAAGATGATGTGAGGG	0.502																																																	0								ENSG00000136197						96	86	89					7																	42950004		2203	4300	6503	C7orf25	SO:0001583	missense	0			-	HGNC	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.496A>T	7.37:g.42950004T>A	ENSP00000343364:p.Ile166Phe	Somatic	0	44	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP							pfam_DUF1308	p.I224F	ENST00000350427.4	37	c.670	CCDS5466.1	7	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405216	0.42613	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.8	-2.11	0.07187	.	0.296244	0.34484	N	0.003935	T	0.34337	0.0894	M	0.71581	2.175	0.54753	D	0.999984	B;B;B	0.31503	0.188;0.326;0.036	B;B;B	0.36989	0.238;0.139;0.102	T	0.16100	-1.0414	10	0.10111	T	0.7	-6.0784	6.3873	0.21568	0.1081:0.314:0.0:0.5779	.	166;224;166	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	F	166;166;224;166;166	ENSP00000343364:I166F;ENSP00000413029:I166F;ENSP00000416290:I224F;ENSP00000396597:I166F;ENSP00000413106:I166F	ENSP00000343364:I166F	I	-	1	0	C7orf25	42916529	1.000000	0.71417	0.955000	0.39395	0.990000	0.78478	0.842000	0.27627	-0.104000	0.12154	0.454000	0.30748	ATC	-	pfam_DUF1308		0.502	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf25	protein_coding	OTTHUMT00000250814.2	T	NM_024054	-		42950004	-1	no_errors	ENST00000431882	ensembl	human	known	74_37	missense	SNP	0.947	A	A	42950004	T	A	42950004	3	1	221	1	0	0	0	0	1	0	0	0	2382	1464	51	5	773	5	C7orf25	7	42950004	Missense_Mutation	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	24261748	42950004	116188659	38	17889											
TERF1	7013	genome.wustl.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-													aggtgcaggtgggggcccccGaggaggaggaggaggaggag							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																																	0								ENSG00000147601																																			TERF1	SO:0001651	inframe_deletion	0				HGNC	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del	Somatic	0	46	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL							pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E58in_frame_del	ENST00000276603.5	37	c.163_165	CCDS6211.1	8																																																																																			-	pirsf_Telomere_repeat-bd-1/2		0.65	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	protein_coding	OTTHUMT00000379093.1	GAG	NM_017489			73921286	1	no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_del	DEL	0.121:0.130:0.144	-	-	73921286	GAG	-	73921284	7	5	221	1	0	1	0	1	0	0	0	0	15768	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-WK-A8XO-01A-11D-A37C-09		73921284	72442738	39	17890											
STAU2	27067	genome.wustl.edu	37	chr8	74621369	74621369	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacattgcagttttctctttTgggtttgccattttatcttg	7	8	2	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr8:74621369T>A	ENST00000524300.1	-	4	362	c.12A>T	c.(10-12)ccA>ccT	p.P4P	RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000521419.1_Intron|STAU2_ENST00000519961.1_Silent_p.P4P|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524104.1_Intron|STAU2_ENST00000521727.1_Intron|RP11-463D19.2_ENST00000358757.5_Intron|STAU2_ENST00000355780.5_Intron|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000522695.1_Intron|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000522509.1_Intron	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	4					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTTCTCTTTTGGGTTTGCCA	0.358																																																	0								ENSG00000040341						92	76	81					8																	74621369		692	1590	2282	STAU2	SO:0001819	synonymous_variant	0			-	HGNC	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.12A>T	8.37:g.74621369T>A		Somatic	0	77	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP							pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.P4	ENST00000524300.1	37	c.12	CCDS55247.1	8																																																																																			-	NULL		0.358	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	protein_coding	OTTHUMT00000379000.2	T	NM_001164380	-		74621369	-1	no_errors	ENST00000524300	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74621369	T	A	74621369	2	1	221	1	0	0	0	0	0	0	0	1	15280	1799	63	5		5	STAU2	8	74621369	Silent	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	700085	74621369	71742653	40	17891											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885852	88885852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacgtagagggttttgtgCgggtatacccggagctcagg	18	7	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr8:88885852C>T	ENST00000319675.3	-	1	444	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	116										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGTTTTGTGCGGGTATACCC	0.552																																																	0								ENSG00000176566						128	124	125					8																	88885852		2203	4300	6503	DCAF4L2	SO:0001819	synonymous_variant	0			-	HGNC	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.348G>A	8.37:g.88885852C>T		Somatic	0	60	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P116	ENST00000319675.3	37	c.348	CCDS6245.1	8																																																																																			-	superfamily_WD40_repeat_dom		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	protein_coding	OTTHUMT00000375302.1	C	NM_152418	-		88885852	-1	no_errors	ENST00000319675	ensembl	human	known	74_37	silent	SNP	0.946	T	T	88885852	C	T	88885852	2	4	221	1	0	0	0	0	0	0	0	1	4274	755	27	1		1	DCAF4L2	8	88885852	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	14264483	88885852	57478170	41	17892											
GSDMC	56169	genome.wustl.edu	37	chr8	130777930	130777930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatattcacactactgctatCgtacagcacagtattgttga	6	9	1	1	rs375510820		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr8:130777930C>T	ENST00000276708.4	-	4	1395	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	172						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.D172N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTACTGCTATCGTACAGCACA	0.428																																																	1	Substitution - Missense(1)	skin(1)						ENSG00000147697	C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	124	116	119		514	-2.6	0	8		119	0,8600		0,0,4300	no	missense	GSDMC	NM_031415.2	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	172/509	130777930	3,13003	2203	4300	6503	GSDMC	SO:0001583	missense	0			-	HGNC	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.514G>A	8.37:g.130777930C>T	ENSP00000276708:p.Asp172Asn	Somatic	0	83	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	Q5XKF3|Q6P494	Missense_Mutation	SNP							pfam_Gasdermin	p.D172N	ENST00000276708.4	37	c.514	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	C	8.527	0.870003	0.17322	6.81E-4	0.0	ENSG00000147697	ENST00000276708	T	0.23348	1.91	4.51	-2.59	0.06209	.	1.724680	0.02841	N	0.128013	T	0.17492	0.0420	L	0.31926	0.97	0.09310	N	1	B	0.26258	0.145	B	0.23018	0.043	T	0.12760	-1.0535	10	0.22109	T	0.4	.	5.341	0.15984	0.1422:0.3789:0.0:0.4789	.	172	Q9BYG8	GSDMC_HUMAN	N	172	ENSP00000276708:D172N	ENSP00000276708:D172N	D	-	1	0	GSDMC	130847112	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.739000	0.04866	-0.582000	0.05929	-1.936000	0.00505	GAT	-	pfam_Gasdermin		0.428	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	protein_coding	OTTHUMT00000380586.1	C		-		130777930	-1	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	SNP	0.000	T	T	130777930	C	T	130777930	3	4	221	1	0	0	0	0	1	0	0	0	6820	884	31	1	1056	1	GSDMC	8	130777930	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	41892078	130777930	15586092	42	17893											
DDX58	23586	genome.wustl.edu	37	chr9	32466417	32466417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagtcagaaggaagcacttGctacctcttgctcttcctct	7	13	4	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr9:32466417G>T	ENST00000379883.2	-	16	2365	c.2208C>A	c.(2206-2208)agC>agA	p.S736R	DDX58_ENST00000379868.1_Missense_Mutation_p.S533R|DDX58_ENST00000545044.1_Missense_Mutation_p.A532E|DDX58_ENST00000542096.1_Missense_Mutation_p.S665R|DDX58_ENST00000379882.1_Missense_Mutation_p.S691R	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	736	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GGAAGCACTTGCTACCTCTTG	0.318																																																	0								ENSG00000107201						120	110	113					9																	32466417		2203	4300	6503	DDX58	SO:0001583	missense	0			-	HGNC	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2208C>A	9.37:g.32466417G>T	ENSP00000369213:p.Ser736Arg	Somatic	0	88	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP							pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S736R	ENST00000379883.2	37	c.2208	CCDS6526.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.87|16.87	3.242889|3.242889	0.58995|0.58995	.|.	.|.	ENSG00000107201|ENSG00000107201	ENST00000545044|ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T|T;T;T;T	0.09255|0.47177	3.0|0.85;0.85;0.85;0.85	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Helicase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79028|0.79028	0.4377|0.4377	H|H	0.95611|0.95611	3.695|3.695	0.25255|0.25255	N|N	0.989644|0.989644	D|D;D;D	0.89917|0.89917	1.0|1.0;1.0;1.0	D|D;D;D	0.87578|0.97110	0.998|1.0;1.0;0.996	T|T	0.76030|0.76030	-0.3108|-0.3108	9|10	0.02654|0.72032	T|D	1|0.01	-15.2077|-15.2077	18.4259|18.4259	0.90608|0.90608	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	532|691;665;736	F5H5W6|O95786-2;B3KWW1;O95786	.|.;.;DDX58_HUMAN	E|R	532|691;736;533;665	ENSP00000443055:A532E|ENSP00000369212:S691R;ENSP00000369213:S736R;ENSP00000369197:S533R;ENSP00000442160:S665R	ENSP00000443055:A532E|ENSP00000369197:S533R	A|S	-|-	2|3	0|2	DDX58|DDX58	32456417|32456417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.268000|5.268000	0.65536|0.65536	2.725000|2.725000	0.93324|0.93324	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.318	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	protein_coding	OTTHUMT00000052011.1	G	NM_014314	-		32466417	-1	no_errors	ENST00000379883	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32466417	G	T	32466417	3	4	221	1	0	0	0	0	1	0	0	0	4377	1310	46	3	581	3	DDX58	9	32466417	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		32466417	108747014	43	17894											
C10orf68	79741	genome.wustl.edu	37	chr10	33136791	33136791	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaacccttgacaaatgccaTtggttcaagtaaaacaattg	7	8	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr10:33136791T>A	ENST00000375030.2	+	19	1943	c.1325T>A	c.(1324-1326)aTt>aAt	p.I442N	C10orf68_ENST00000375028.3_Missense_Mutation_p.I487N|C10orf68_ENST00000375025.4_Missense_Mutation_p.I547N			Q9H943	CJ068_HUMAN		483										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACAAATGCCATTGGTTCAAGT	0.299																																																	0								ENSG00000150076						106	110	109					10																	33136791		2203	4299	6502	C10orf68	SO:0001583	missense	0			-	HGNC																												ENST00000375030.2:c.1325T>A	10.37:g.33136791T>A	ENSP00000364170:p.Ile442Asn	Somatic	0	131	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP							NULL	p.I547N	ENST00000375030.2	37	c.1640		10	.	.	.	.	.	.	.	.	.	.	.	7.213	0.595725	0.13875	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.32023	1.49;1.62;1.47;1.47	1.95	-1.82	0.07857	.	.	.	.	.	T	0.28499	0.0705	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.46912	0.815;0.599;0.815;0.886	B;B;B;P	0.47744	0.157;0.112;0.157;0.556	T	0.17961	-1.0352	9	0.72032	D	0.01	.	2.6361	0.04958	0.0:0.2499:0.262:0.4881	.	464;483;487;442	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	N	483;442;487;547;459	ENSP00000303710:I483N;ENSP00000364170:I442N;ENSP00000364168:I487N;ENSP00000364165:I547N	ENSP00000303710:I483N	I	+	2	0	C10orf68	33176797	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.803000	0.01740	-0.436000	0.07254	0.477000	0.44152	ATT	-	NULL		0.299	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	protein_coding	OTTHUMT00000313999.2	T		-		33136791	1	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	SNP	0.000	A	A	33136791	T	A	33136791	3	1	221	1	0	0	0	0	1	0	0	0	1615	1493	52	5	1510	5	C10orf68	10	33136791	Missense_Mutation	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09		33136791	102397956	44	17895											
C10orf72	196740	genome.wustl.edu	37	chr10	50285341	50285341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgctgaggatccccacgCagcacacgaggacagcatac	11	13	0	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr10:50285341C>T	ENST00000332853.4	-	4	580	c.557G>A	c.(556-558)tGc>tAc	p.C186Y		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GATCCCCACGCAGCACACGAG	0.522																																																	0								ENSG00000165633						128	100	110					10																	50285341		2203	4300	6503	VSTM4	SO:0001583	missense	0			-	HGNC	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.557G>A	10.37:g.50285341C>T	ENSP00000331062:p.Cys186Tyr	Somatic	0	65	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B4DNI6|Q96MX7	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C186Y	ENST00000332853.4	37	c.557	CCDS31198.1	10	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269983	0.59540	.	.	ENSG00000165633	ENST00000332853	T	0.06687	3.27	5.3	5.3	0.74995	.	0.261225	0.37809	N	0.001928	T	0.17746	0.0426	L	0.47716	1.5	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	T	0.00042	-1.2228	10	0.54805	T	0.06	-15.4913	12.0778	0.53653	0.0:0.8272:0.1728:0.0	.	186	Q8IW00	VSTM4_HUMAN	Y	186	ENSP00000331062:C186Y	ENSP00000331062:C186Y	C	-	2	0	VSTM4	49955347	0.991000	0.36638	0.967000	0.41034	0.746000	0.42486	2.906000	0.48735	2.758000	0.94735	0.655000	0.94253	TGC	-	NULL		0.522	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM4	protein_coding	OTTHUMT00000047966.2	C	NM_144984	-		50285341	-1	no_errors	ENST00000332853	ensembl	human	known	74_37	missense	SNP	0.949	T	T	50285341	C	T	50285341	3	4	221	1	0	0	0	0	1	0	0	0	1617	710	25	2	425	2	C10orf72	10	50285341	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	17148550	50285341	85249406	45	17896											
KCNMA1	3778	genome.wustl.edu	37	chr10	78943284	78943284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaatttatcgttggctgCaataaactgggggaaagaag	11	7	0	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr10:78943284C>T	ENST00000286628.8	-	5	702	c.703G>A	c.(703-705)Gca>Aca	p.A235T	KCNMA1_ENST00000372440.1_Missense_Mutation_p.A235T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A235T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A235T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A235T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A235T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A235T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A235T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	235					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCGTTGGCTGCAATAAACTGG	0.423																																																	0								ENSG00000156113						61	55	57					10																	78943284		2203	4300	6503	KCNMA1	SO:0001583	missense	0			-	HGNC	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.703G>A	10.37:g.78943284C>T	ENSP00000286628:p.Ala235Thr	Somatic	0	53	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.00	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.A235T	ENST00000286628.8	37	c.703		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.472802|5.472802	0.96274|0.96274	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421	T;T;T;T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65668|0.65668	0.2713|0.2713	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.998;1.0;1.0;1.0;0.998|.	D;D;D;D;D;D|.	0.87578|.	0.998;0.99;0.99;0.994;0.99;0.986|.	T|T	0.58482|0.58482	-0.7629|-0.7629	10|5	0.87932|.	D|.	0|.	-7.626|-7.626	20.3151|20.3151	0.98650|0.98650	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;235;235;235;235;235|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	T|Y	235;172;170;209;172;235;235;209;235;235;235;17|223	ENSP00000361517:A235T;ENSP00000361485:A172T;ENSP00000361514:A170T;ENSP00000396608:A209T;ENSP00000361520:A235T;ENSP00000286627:A235T;ENSP00000385552:A235T;ENSP00000346321:A235T;ENSP00000385806:A235T|.	ENSP00000286627:A235T|.	A|C	-|-	1|2	0|0	KCNMA1|KCNMA1	78613290|78613290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.707000|7.707000	0.84623|0.84623	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	GCA|TGC	-	pfam_Ion_trans_dom,prints_K_chnl		0.423	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	protein_coding	OTTHUMT00000048885.3	C	NM_002247	-		78943284	-1	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78943284	C	T	78943284	3	4	221	1	0	0	0	0	1	0	0	0	8075	710	25	2	3275	2	KCNMA1	10	78943284	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	28657943	78943284	56591463	46	17897											
BMPR1A	657	genome.wustl.edu	37	chr10	88649943	88649943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaagtgctattgctcAgggcactgtccagatgatgc	10	8	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr10:88649943A>G	ENST00000372037.3	+	4	729	c.192A>G	c.(190-192)tcA>tcG	p.S64S	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	64					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GCTATTGCTCAGGGCACTGTC	0.398			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)		yes	Rec		Juvenile polyposis	10	10q22.3	657	"bone morphogenetic protein receptor, type IA"		E	0								ENSG00000107779						164	151	156					10																	88649943		2203	4300	6503	BMPR1A	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	-	HGNC	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.192A>G	10.37:g.88649943A>G		Somatic	0	77	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K6U9|Q8NEN8	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S64	ENST00000372037.3	37	c.192	CCDS7378.1	10																																																																																			-	pfam_Activin_rcpt		0.398	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1A	protein_coding	OTTHUMT00000049170.3	A	NM_004329	-		88649943	1	no_errors	ENST00000372037	ensembl	human	known	74_37	silent	SNP	1.000	G	G	88649943	A	G	88649943	2	3	221	1	0	0	0	0	0	0	0	1	1469	175	7	5		5	BMPR1A	10	88649943	Silent	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	9706659	88649943	46884804	47	17898											
ART1	417	genome.wustl.edu	37	chr11	3681130	3681130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacagccaacagccccctGcacaaggagttcaatgcagc	8	15	1	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:3681130G>A	ENST00000250693.1	+	3	482	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	127					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		ACAGCCCCCTGCACAAGGAGT	0.652																																																	0								ENSG00000129744						32	34	33					11																	3681130		2201	4297	6498	ART1	SO:0001819	synonymous_variant	0			-	HGNC	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.381G>A	11.37:g.3681130G>A		Somatic	0	76	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q6NTD2|Q96KT9	Silent	SNP							pfam_ART,prints_ART	p.L127	ENST00000250693.1	37	c.381	CCDS7744.1	11																																																																																			-	pfam_ART		0.652	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	protein_coding	OTTHUMT00000032765.1	G	NM_004314	-		3681130	1	no_errors	ENST00000250693	ensembl	human	known	74_37	silent	SNP	1.000	A	A	3681130	G	A	3681130	2	1	221	1	0	0	0	0	0	0	0	1	997	1306	46	2		2	ART1	11	3681130	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		3681130	131325386	48	17899											
NRIP3	56675	genome.wustl.edu	37	chr11	9007284	9007284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctgggcagtccaggCggagggagcccagtgtgatc	17	11	0	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:9007284C>T	ENST00000309166.3	-	4	649	c.536G>A	c.(535-537)cGc>cAc	p.R179H	NRIP3_ENST00000531090.1_Intron	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	179							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		GCAGTCCAGGCGGAGGGAGCC	0.542																																																	0								ENSG00000175352						131	127	129					11																	9007284		2201	4296	6497	NRIP3	SO:0001583	missense	0			-	HGNC	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"chromosome 11 open reading frame 14"	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.536G>A	11.37:g.9007284C>T	ENSP00000310205:p.Arg179His	Somatic	0	67	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q86WD9	Missense_Mutation	SNP							pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom	p.R179H	ENST00000309166.3	37	c.536	CCDS31422.1	11	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295976	0.60086	.	.	ENSG00000175352	ENST00000309166;ENST00000531142	T	0.39592	1.07	6.02	4.17	0.49024	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.399819	0.28214	N	0.016167	T	0.49541	0.1563	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.60609	0.877	T	0.49418	-0.8942	10	0.14656	T	0.56	.	6.3337	0.21285	0.1464:0.701:0.0:0.1526	.	179	Q9NQ35	NRIP3_HUMAN	H	179;7	ENSP00000310205:R179H	ENSP00000310205:R179H	R	-	2	0	NRIP3	8963860	0.465000	0.25815	0.992000	0.48379	0.835000	0.47333	0.090000	0.15025	0.893000	0.36288	-0.150000	0.13652	CGC	-	pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom		0.542	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP3	protein_coding	OTTHUMT00000385774.1	C	NM_020645	-		9007284	-1	no_errors	ENST00000309166	ensembl	human	known	74_37	missense	SNP	0.998	T	T	9007284	C	T	9007284	3	4	221	1	0	0	0	0	1	0	0	0	10656	768	27	1	205	1	NRIP3	11	9007284	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	5326154	9007284	125999232	49	17900											
ANO3	63982	genome.wustl.edu	37	chr11	26677985	26677985	+	Frame_Shift_Del	DEL	G	G	-													tgagtttactttacaatactGgcatatccttgctgctagat							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:26677985delG	ENST00000256737.3	+	26	3572	c.2720delG	c.(2719-2721)tggfs	p.W907fs	ANO3_ENST00000525139.1_Frame_Shift_Del_p.W891fs|ANO3_ENST00000531568.1_Frame_Shift_Del_p.W761fs|ANO3_ENST00000537978.1_Frame_Shift_Del_p.W891fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	907					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						TTACAATACTGGCATATCCTT	0.373																																																	0								ENSG00000134343						165	169	167					11																	26677985		2203	4299	6502	ANO3	SO:0001589	frameshift_variant	0				HGNC	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.2720delG	11.37:g.26677985delG	ENSP00000256737:p.Trp907fs	Somatic	0	84	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B7Z3F5	Frame_Shift_Del	DEL							pfam_Anoctamin	p.W907fs	ENST00000256737.3	37	c.2720	CCDS31447.1	11																																																																																			-	pfam_Anoctamin		0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	protein_coding	OTTHUMT00000387806.1	G	NM_031418			26677985	1	no_errors	ENST00000256737	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	26677985	G	-	26677985	7	5	221	1	0	1	0	1	0	0	0	0	698	1357	47	0	2822	0	ANO3	11	26677985	Frame_Shift_Del	DEL	G	TCGA-WK-A8XO-01A-11D-A37C-09	17670701	26677985	108328531	50	17901											
F2	2147	genome.wustl.edu	37	chr11	46760630	46760630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaagggaaacgaggggatGcctgtgaaggtgacagtggg	19	4	0	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:46760630G>T	ENST00000311907.5	+	13	1743	c.1687G>T	c.(1687-1689)Gcc>Tcc	p.A563S	F2_ENST00000530231.1_Missense_Mutation_p.A524S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	563	High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACGAGGGGATGCCTGTGAAGG	0.547																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0								ENSG00000180210						126	119	121					11																	46760630		2201	4299	6500	F2	SO:0001583	missense	0			-	HGNC	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1687G>T	11.37:g.46760630G>T	ENSP00000308541:p.Ala563Ser	Somatic	0	59	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.A563S	ENST00000311907.5	37	c.1687	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357519	0.61293	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.93133	-3.17;-3.17	5.32	3.07	0.35406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.104014	0.64402	N	0.000004	D	0.93468	0.7916	N	0.21545	0.675	0.58432	D	0.999999	P	0.46912	0.886	D	0.67548	0.952	D	0.94235	0.7480	10	0.87932	D	0	.	15.1236	0.72465	0.0:0.0:0.6898:0.3102	.	563	P00734	THRB_HUMAN	S	563;524	ENSP00000308541:A563S;ENSP00000433907:A524S	ENSP00000308541:A563S	A	+	1	0	F2	46717206	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.760000	0.62235	1.087000	0.41251	0.460000	0.39030	GCC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.547	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	protein_coding	OTTHUMT00000317706.1	G		-		46760630	1	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46760630	G	T	46760630	3	4	221	1	0	0	0	0	1	0	0	0	5344	1319	46	3	1737	3	F2	11	46760630	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	20082645	46760630	88245886	51	17902											
ARFGAP2	84364	genome.wustl.edu	37	chr11	47193866	47193866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggcttcttcttgccaAtgatggagcttttcagttct	9	10	4	1	rs369493716		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:47193866A>G	ENST00000524782.1	-	8	866	c.638T>C	c.(637-639)aTt>aCt	p.I213T	ARFGAP2_ENST00000395449.3_5'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.I106T	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	213	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.I213T(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCTTGCCAATGATGGAGCT	0.537																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000149182	A	THR/ILE,THR/ILE	1,4401	2.1+/-5.4	0,1,2200	316	285	295		554,638	6.1	1	11		295	0,8596		0,0,4298	no	missense,missense	ARFGAP2	NM_001242832.1,NM_032389.4	89,89	0,1,6498	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	185/494,213/522	47193866	1,12997	2201	4298	6499	ARFGAP2	SO:0001583	missense	0			-	HGNC	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.638T>C	11.37:g.47193866A>G	ENSP00000434442:p.Ile213Thr	Somatic	0	94	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP							pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.I213T	ENST00000524782.1	37	c.638	CCDS7926.1	11	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276919	0.80580	2.27E-4	0.0	ENSG00000149182	ENST00000524782;ENST00000419701;ENST00000525398;ENST00000525314;ENST00000528444	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.74258	2.255	0.80722	D	1	P;P	0.52061	0.95;0.745	P;B	0.53185	0.72;0.367	T	0.56269	-0.8007	10	0.34782	T	0.22	-15.0887	15.8218	0.78654	1.0:0.0:0.0:0.0	.	106;213	B4DX29;Q8N6H7	.;ARFG2_HUMAN	T	213;106;227;227;238	ENSP00000434442:I213T;ENSP00000389264:I106T;ENSP00000431939:I227T;ENSP00000434809:I227T;ENSP00000431684:I238T	ENSP00000389264:I106T	I	-	2	0	ARFGAP2	47150442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.870000	0.92336	2.326000	0.78906	0.533000	0.62120	ATT	-	NULL		0.537	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	protein_coding	OTTHUMT00000391425.1	A	NM_032389	-		47193866	-1	no_errors	ENST00000524782	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47193866	A	G	47193866	3	3	221	1	0	0	0	0	1	0	0	0	850	101	4	5	963	5	ARFGAP2	11	47193866	Missense_Mutation	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	433236	47193866	87812650	52	17903											
CLP1	10978	genome.wustl.edu	37	chr11	57428885	57428910	+	Stop_Codon_Del	DEL	ATCCGGTTCATGGATCTGAAGTAGAG	ATCCGGTTCATGGATCTGAAGTAGAG	-													acttccttctcatcatggatAtccggttcatggatctgaag							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	ATCCGGTTCATGGATCTGAAGTAGAG	ATCCGGTTCATGGATCTGAAGTAGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:57428885_57428910delATCCGGTTCATGGATCTGAAGTAGAG	ENST00000302731.4	+	0	1183_1208				CLP1_ENST00000529430.1_Stop_Codon_Del|CLP1_ENST00000525602.1_Stop_Codon_Del|CLP1_ENST00000533682.1_Stop_Codon_Del	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1						carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CATCATGGATATCCGGTTCATGGATCTGAAGTAGAGATCAGCAGGA	0.527																																																	0								ENSG00000172409																																			CLP1	SO:0001567	stop_retained_variant	0				HGNC	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	Exception_encountered	11.37:g.57428885_57428910delATCCGGTTCATGGATCTGAAGTAGAG		Somatic					0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	In_Frame_Del	DEL							pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.IRFMDLK*419in_frame_del	ENST00000302731.4	37	c.1255_1278	CCDS44600.1	11																																																																																			-	pfam_Pre-mRNA_cleavage_cplxII_Clp1		0.527	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	protein_coding	OTTHUMT00000393465.1	ATCCGGTTCATGGATCTGAAGTAGAG	NM_006831			57428910	1	no_errors	ENST00000525602	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.858:1.000:1.000:0.993:1.000:1.000:0.925	-	-	57428910	ATCCGGTTCATGGATCTGAAGTAGAG	-	57428885	7	5	221	1	0	1	0	1	0	0	0	0	3552	449	16	0	1261	0	CLP1	11	57428885	Stop_Codon_Del	DEL	ATCCGGTTCATGGATCTGAAGTAGAG	TCGA-WK-A8XO-01A-11D-A37C-09	10235019	57428885	77577631	53	17904											
KLC2	64837	genome.wustl.edu	37	chr11	66031619	66031619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggaatattactatcggCgggcactggagatctatgct	13	7	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:66031619C>T	ENST00000417856.1	+	8	1288	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	KLC2_ENST00000421552.1_Missense_Mutation_p.R272W|KLC2_ENST00000394066.2_Missense_Mutation_p.R272W|KLC2_ENST00000394067.2_Missense_Mutation_p.R349W|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Missense_Mutation_p.R349W|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394065.2_Missense_Mutation_p.R210W|RP11-755F10.3_ENST00000533576.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	349					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTACTATCGGCGGGCACTGGA	0.587																																																	0								ENSG00000174996						27	23	24					11																	66031619		2200	4293	6493	KLC2	SO:0001583	missense	0			-	HGNC	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1045C>T	11.37:g.66031619C>T	ENSP00000399403:p.Arg349Trp	Somatic	0	28	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP							pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R349W	ENST00000417856.1	37	c.1045	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558884	0.45590	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	4.23	1.11	0.20524	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.084816	0.47852	D	0.000210	D	0.97595	0.9212	H	0.94423	3.535	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.967;0.93;1.0	D	0.97160	0.9837	10	0.87932	D	0	-24.5033	12.019	0.53331	0.614:0.386:0.0:0.0	.	210;272;349	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	W	349;349;349;272;272;210	ENSP00000399403:R349W;ENSP00000377631:R349W;ENSP00000314837:R349W;ENSP00000408484:R272W;ENSP00000377630:R272W;ENSP00000377629:R210W	ENSP00000314837:R349W	R	+	1	2	KLC2	65788195	0.983000	0.35010	0.997000	0.53966	0.120000	0.20174	0.474000	0.22148	0.049000	0.15920	0.555000	0.69702	CGG	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.587	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	protein_coding	OTTHUMT00000258200.1	C	NM_022822	-		66031619	1	no_errors	ENST00000316924	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66031619	C	T	66031619	3	4	221	1	0	0	0	0	1	0	0	0	8336	759	27	1	1071	1	KLC2	11	66031619	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	8602734	66031619	68974897	54	17905											
TYR	7299	genome.wustl.edu	37	chr11	88911205	88911205	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agagcctgtgtctcctctaaGaacctgatggagaaggaatg	12	8	2	4			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:88911205G>C	ENST00000263321.5	+	1	586	c.84G>C	c.(82-84)aaG>aaC	p.K28N	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	28					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TCTCCTCTAAGAACCTGATGG	0.547																																																	0								ENSG00000077498						77	76	76					11																	88911205		2201	4299	6500	TYR	SO:0001583	missense	0			-	HGNC	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.84G>C	11.37:g.88911205G>C	ENSP00000263321:p.Lys28Asn	Somatic	0	45	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP							pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.K28N	ENST00000263321.5	37	c.84	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706895	0.48412	.	.	ENSG00000077498	ENST00000263321	D	0.99136	-5.47	6.07	6.07	0.98685	.	0.414174	0.29964	N	0.010741	D	0.97801	0.9278	L	0.57536	1.79	0.38986	D	0.959057	B	0.27932	0.194	B	0.28991	0.097	D	0.97314	0.9939	9	.	.	.	.	16.8564	0.86007	0.0:0.1281:0.8719:0.0	.	28	P14679	TYRO_HUMAN	N	28	ENSP00000263321:K28N	.	K	+	3	2	TYR	88550853	1.000000	0.71417	0.976000	0.42696	0.775000	0.43874	1.193000	0.32162	2.885000	0.99019	0.655000	0.94253	AAG	-	NULL		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	protein_coding	OTTHUMT00000394045.2	G	NM_000372	-		88911205	1	no_errors	ENST00000263321	ensembl	human	known	74_37	missense	SNP	0.999	C	C	88911205	G	C	88911205	3	2	221	1	0	0	0	0	1	0	0	0	16820	933	33	4	86	4	TYR	11	88911205	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	22879586	88911205	46095311	55	17906											
STT3A	3703	genome.wustl.edu	37	chr11	125482602	125482602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgtccagacaagaagaGcaagaagcaacaggattcca	10	9	0	4			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:125482602G>T	ENST00000529196.1	+	13	1531	c.1325G>T	c.(1324-1326)aGc>aTc	p.S442I	STT3A_ENST00000392708.4_Missense_Mutation_p.S442I|STT3A_ENST00000531491.1_Missense_Mutation_p.S350I			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	442					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GACAAGAAGAGCAAGAAGCAA	0.448																																																	0								ENSG00000134910						143	123	130					11																	125482602		2201	4299	6500	STT3A	SO:0001583	missense	0			-	HGNC	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1325G>T	11.37:g.125482602G>T	ENSP00000436962:p.Ser442Ile	Somatic	0	61	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP							pfam_Oligo_trans_STT3	p.S442I	ENST00000529196.1	37	c.1325	CCDS8458.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719196|2.719196	0.48728|0.48728	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000526726|ENST00000392708;ENST00000529196;ENST00000531491	.|.	.|.	.|.	5.97|5.97	0.439|0.439	0.16567|0.16567	.|.	.|0.313724	.|0.38381	.|N	.|0.001707	T|T	0.27559|0.27559	0.0677|0.0677	N|N	0.04355|0.04355	-0.22|-0.22	0.39324|0.39324	D|D	0.965291|0.965291	.|B;B	.|0.31503	.|0.065;0.326	.|B;B	.|0.36335	.|0.091;0.222	T|T	0.06232|0.06232	-1.0838|-1.0838	5|9	.|0.44086	.|T	.|0.13	-4.1249|-4.1249	6.879|6.879	0.24163|0.24163	0.2914:0.2194:0.4892:0.0|0.2914:0.2194:0.4892:0.0	.|.	.|350;442	.|B4DJ24;P46977	.|.;STT3A_HUMAN	S|I	154|442;442;350	.|.	.|ENSP00000376472:S442I	A|S	+|+	1|2	0|0	STT3A|STT3A	124987812|124987812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.665000|0.665000	0.25083|0.25083	0.391000|0.391000	0.25143|0.25143	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	pfam_Oligo_trans_STT3		0.448	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	protein_coding	OTTHUMT00000386691.1	G	NM_152713	-		125482602	1	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	SNP	0.987	T	T	125482602	G	T	125482602	3	4	221	1	0	0	0	0	1	0	0	0	15340	971	34	3	1367	3	STT3A	11	125482602	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	36571397	125482602	9523914	56	17907											
PUS3	83480	genome.wustl.edu	37	chr11	125766086	125766086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccttatttttggcctGttcctttttaagtctttgca	6	10	1	0	rs147862544		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr11:125766086G>T	ENST00000530811.1	-	1	139	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.Q32K|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	32					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTTTTGGCCTGTTCCTTTTTA	0.418																																																	0								ENSG00000110060						219	218	218					11																	125766086		2201	4299	6500	PUS3	SO:0001583	missense	0			-	HGNC	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.94C>A	11.37:g.125766086G>T	ENSP00000432386:p.Gln32Lys	Somatic	0	87	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP							pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.Q32K	ENST00000530811.1	37	c.94	CCDS8466.1	11	.	.	.	.	.	.	.	.	.	.	G	3.705	-0.060664	0.07317	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158;ENST00000529801	T;T;T;T	0.54279	1.56;1.56;0.58;1.0	6.03	5.11	0.69529	.	0.499688	0.22665	N	0.057146	T	0.45216	0.1331	L	0.51422	1.61	0.32172	N	0.581487	B	0.15141	0.012	B	0.08055	0.003	T	0.50048	-0.8873	10	0.06099	T	0.92	-3.7453	16.7524	0.85489	0.0:0.0:0.8698:0.1302	.	32	Q9BZE2	PUS3_HUMAN	K	32	ENSP00000227474:Q32K;ENSP00000432386:Q32K;ENSP00000432272:Q32K;ENSP00000437077:Q32K	ENSP00000227474:Q32K	Q	-	1	0	PUS3	125271296	0.976000	0.34144	0.935000	0.37517	0.549000	0.35272	2.510000	0.45468	1.541000	0.49316	0.655000	0.94253	CAG	-	NULL		0.418	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS3	protein_coding	OTTHUMT00000386783.1	G	NM_031307	-		125766086	-1	no_errors	ENST00000227474	ensembl	human	known	74_37	missense	SNP	0.992	T	T	125766086	G	T	125766086	3	4	221	1	0	0	0	0	1	0	0	0	12840	1386	48	3	1363	3	PUS3	11	125766086	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	283484	125766086	9240430	57	17908											
MLL2	8085	genome.wustl.edu	37	chr12	49426727	49426727	+	Frame_Shift_Del	DEL	G	G	-													ctgaagttgctgttgctgttGtagctgctgctgctgctgct							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr12:49426727delG	ENST00000301067.7	-	39	11760	c.11761delC	c.(11761-11763)caafs	p.Q3925fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3925	Gln-rich.				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)										tgttgctgttgtagctgctgc	0.542																																																	0								ENSG00000167548						14	16	15					12																	49426727		1801	3355	5156	KMT2D	SO:0001589	frameshift_variant	0				HGNC	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.11761delC	12.37:g.49426727delG	ENSP00000301067:p.Gln3925fs	Somatic	0	57	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	O14687	Frame_Shift_Del	DEL							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3921fs	ENST00000301067.7	37	c.11761	CCDS44873.1	12																																																																																			-	NULL		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	G				49426727	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	DEL	0.012	-	-	49426727	G	-	49426727	7	5	221	1	0	1	0	1	0	0	0	0	9623	1386	48	0	4916	0	MLL2	12	49426727	Frame_Shift_Del	DEL	G	TCGA-WK-A8XO-01A-11D-A37C-09		49426727	84425168	58	17909											
DIP2B	57609	genome.wustl.edu	37	chr12	51112505	51112505	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggtgtaggccctgcTtccgtgatggttgggaatct	13	8	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr12:51112505T>G	ENST00000301180.5	+	24	2899	c.2865T>G	c.(2863-2865)gcT>gcG	p.A955A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	955						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAGGCCCTGCTTCCGTGATGG	0.458																																																	0								ENSG00000066084						137	114	122					12																	51112505		2203	4300	6503	DIP2B	SO:0001819	synonymous_variant	0			-	HGNC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2865T>G	12.37:g.51112505T>G		Somatic	0	76	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	Q6B011|Q8N1L5|Q8NB38	Silent	SNP							pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A955	ENST00000301180.5	37	c.2865	CCDS31799.1	12																																																																																			-	NULL		0.458	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	protein_coding	OTTHUMT00000404243.1	T	NM_173602	-		51112505	1	no_errors	ENST00000301180	ensembl	human	known	74_37	silent	SNP	0.986	G	G	51112505	T	G	51112505	2	3	221	1	0	0	0	0	0	0	0	1	4530	1596	56	5		5	DIP2B	12	51112505	Silent	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	1685778	51112505	82739390	59	17910											
DTX3	196403	genome.wustl.edu	37	chr12	58002927	58002937	+	Stop_Codon_Del	DEL	GATGACTGAAG	GATGACTGAAG	-													tgagagcgaagggtatcacaGatgactgaaggacatcgcct					rs543446533	byFrequency	TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	GATGACTGAAG	GATGACTGAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr12:58002927_58002937delGATGACTGAAG	ENST00000548198.1	+	0	2540_2550				DTX3_ENST00000337737.3_Stop_Codon_Del|DTX3_ENST00000548804.1_Stop_Codon_Del|ARHGEF25_ENST00000286494.4_5'Flank|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000551632.1_Stop_Codon_Del|AC025165.8_ENST00000356672.3_RNA			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGGTATCACAGATGACTGAAGGACATCGCCT	0.588																																																	0								ENSG00000178498																																			DTX3	SO:0001567	stop_retained_variant	0				HGNC	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		Exception_encountered	12.37:g.58002927_58002937delGATGACTGAAG	ENSP00000447873:p.*348Serext*11	Somatic					0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q53ZZ2|Q8NAU6|Q8NDS8	In_Frame_Del	DEL							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.DD*349in_frame_del	ENST00000548198.1	37	c.1045_1053	CCDS41800.1	12																																																																																			-	NULL		0.588	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	protein_coding	OTTHUMT00000407848.1	GATGACTGAAG	NM_178502			58002937	1	no_errors	ENST00000551632	ensembl	human	known	74_37	in_frame_del	DEL	0.987:0.979:0.973:1.000:1.000:1.000:1.000:1.000:0.982	-	-	58002937	GATGACTGAAG	-	58002927	7	5	221	1	0	1	0	1	0	0	0	0	4797	942	33	0	1050	0	DTX3	12	58002927	Stop_Codon_Del	DEL	GATGACTGAAG	TCGA-WK-A8XO-01A-11D-A37C-09	6890422	58002927	75848968	60	17911											
USP15	9958	genome.wustl.edu	37	chr12	62783616	62783616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacagaagatacagagcaCgtgattattcctgtttgcct	10	8	0	4	rs144407646		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr12:62783616C>T	ENST00000280377.5	+	14	1750	c.1692C>T	c.(1690-1692)caC>caT	p.H564H	USP15_ENST00000353364.3_Silent_p.H535H|USP15_ENST00000393654.3_Silent_p.H539H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	564	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATACAGAGCACGTGATTATTC	0.348													C|||	1	0.000199681	0	0	5008	,	,		15982	0		0	False		,,,				2504	0.001				Melanoma(181;615 2041 39364 49691 50001)												0								ENSG00000135655	C		0,4406		0,0,2203	91	86	88		1605	0.4	1	12	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	USP15	NM_006313.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		535/953	62783616	3,13003	2203	4300	6503	USP15	SO:0001819	synonymous_variant	0			-	HGNC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1692C>T	12.37:g.62783616C>T		Somatic	0	64	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP							pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.H564	ENST00000280377.5	37	c.1692	CCDS58251.1	12																																																																																			-	pfam_Peptidase_C19/C67,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pfscan_Peptidase_C19/C67		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	protein_coding	OTTHUMT00000407831.2	C	NM_006313	rs144407646		62783616	1	no_errors	ENST00000280377	ensembl	human	known	74_37	silent	SNP	0.999	T	T	62783616	C	T	62783616	2	4	221	1	0	0	0	0	0	0	0	1	17053	535	19	1		1	USP15	12	62783616	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	4780689	62783616	71068279	61	17912											
TSPAN19	144448	genome.wustl.edu	37	chr12	85421771	85421771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccattccaatcaaaatttgaGaaataggtactatgaagtga	7	6	1	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr12:85421771G>A	ENST00000532498.2	-	4	250	c.170C>T	c.(169-171)tCt>tTt	p.S57F	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	57						integral component of membrane (GO:0016021)				ovary(1)	1						CAAAATTTGAGAAATAGGTAC	0.289																																																	0								ENSG00000231738						59	54	56					12																	85421771		1804	4066	5870	TSPAN19	SO:0001583	missense	0			-	HGNC		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"Tetraspanins"	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.170C>T	12.37:g.85421771G>A	ENSP00000433816:p.Ser57Phe	Somatic	0	91	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	180	165	52.17		Missense_Mutation	SNP							pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S57F	ENST00000532498.2	37	c.170	CCDS44949.1	12	.	.	.	.	.	.	.	.	.	.	G	6.419	0.445465	0.12164	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.79554	-1.28;-1.28	4.4	1.35	0.21983	.	.	.	.	.	T	0.68118	0.2966	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.56214	-0.8016	9	0.48119	T	0.1	.	7.2829	0.26322	0.2951:0.0:0.7049:0.0	.	57	P0C672	TSN19_HUMAN	F	57	ENSP00000433816:S57F;ENSP00000446898:S57F	ENSP00000433816:S57F	S	-	2	0	TSPAN19	83945902	0.112000	0.22096	0.002000	0.10522	0.047000	0.14425	0.260000	0.18424	0.129000	0.18514	0.655000	0.94253	TCT	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.289	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	protein_coding	OTTHUMT00000388240.2	G	NM_001100917	-		85421771	-1	no_errors	ENST00000532498	ensembl	human	known	74_37	missense	SNP	0.013	A	A	85421771	G	A	85421771	3	1	221	1	0	0	0	0	1	0	0	0	16650	942	33	2	600	2	TSPAN19	12	85421771	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	22638155	85421771	48430124	62	17913											
GCN1L1	10985	genome.wustl.edu	37	chr12	120572452	120572452	+	Frame_Shift_Del	DEL	C	C	-													atctgcggccttcaggcgcaCcccccggttggagtcctgca							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr12:120572452delC	ENST00000300648.6	-	52	7099	c.7087delG	c.(7087-7089)gtgfs	p.V2363fs		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2363					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)					TTCAGGCGCACCCCCCGGTTG	0.602																																																	0								ENSG00000089154						73	79	77					12																	120572452		1927	4138	6065	GCN1L1	SO:0001589	frameshift_variant	0				HGNC	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.7087delG	12.37:g.120572452delC	ENSP00000300648:p.Val2363fs	Somatic	0	100	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Frame_Shift_Del	DEL							pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V2363fs	ENST00000300648.6	37	c.7087	CCDS41847.1	12																																																																																			-	superfamily_ARM-type_fold		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	C				120572452	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	120572452	C	-	120572452	7	5	221	1	0	1	0	1	0	0	0	0	6301	507	18	0	956	0	GCN1L1	12	120572452	Frame_Shift_Del	DEL	C	TCGA-WK-A8XO-01A-11D-A37C-09	35150681	120572452	13279443	63	17914											
BRCA2	675	genome.wustl.edu	37	chr13	32929041	32929041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaatccaaattttaccGcacctggtcaagaatttctg	6	10	2	2	rs80358930		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr13:32929041G>A	ENST00000380152.3	+	14	7284	c.7051G>A	c.(7051-7053)Gca>Aca	p.A2351T	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2351T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2351	Interaction with FANCD2.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATTTTACCGCACCTGGTCA	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0								ENSG00000139618						86	90	89					13																	32929041		2203	4300	6503	BRCA2	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	-	HGNC	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7051G>A	13.37:g.32929041G>A	ENSP00000369497:p.Ala2351Thr	Somatic	0	75	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP							pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.A2351T	ENST00000380152.3	37	c.7051	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093974	0.36952	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.78707	-1.2;-1.2	5.66	1.92	0.25849	.	0.943531	0.08906	N	0.876575	T	0.67859	0.2938	M	0.73598	2.24	0.09310	N	1	P	0.35155	0.487	B	0.24848	0.056	T	0.52049	-0.8627	10	0.18276	T	0.48	.	1.8346	0.03137	0.1443:0.2575:0.3466:0.2516	.	2351	P51587	BRCA2_HUMAN	T	2351	ENSP00000369497:A2351T;ENSP00000439902:A2351T	ENSP00000369497:A2351T	A	+	1	0	BRCA2	31827041	0.000000	0.05858	0.012000	0.15200	0.988000	0.76386	-0.279000	0.08479	0.110000	0.17919	0.650000	0.86243	GCA	-	pirsf_BRCA2		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	G	NM_000059	rs80358930		32929041	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	SNP	0.007	A	A	32929041	G	A	32929041	3	1	221	1	0	0	0	0	1	0	0	0	1501	1087	38	1	7101	1	BRCA2	13	32929041	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		32929041	82240837	64	17915											
KIAA0564	23078	genome.wustl.edu	37	chr13	42393355	42393355	+	Splice_Site	DEL	T	T	-													agattggctttcttcttaccTtttccttaatcacttggatt							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr13:42393355delT	ENST00000379310.3	-	15	1936	c.1868delA	c.(1867-1869)aag>ag	p.K623fs	VWA8_ENST00000281496.6_Splice_Site_p.K623fs	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	623						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCTTCTTACCTTTTCCTTAAT	0.353																																																	0								ENSG00000102763						65	73	70					13																	42393355		2203	4300	6503	VWA8	SO:0001630	splice_region_variant	0				HGNC	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1869+1A>-	13.37:g.42393355delT		Somatic	0	84	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Del	DEL							pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.K623fs	ENST00000379310.3	37	c.1868	CCDS41881.1	13																																																																																			-	superfamily_P-loop_NTPase		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	T	NM_015058		Frame_Shift_Del	42393355	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	42393355	T	-	42393355	8	5	221	1	0	1	0	1	0	0	1	0	8187	1623	56	0	3977	0	KIAA0564	13	42393355	Splice_Site	DEL	T	TCGA-WK-A8XO-01A-11D-A37C-09	9464314	42393355	72776523	65	17916											
LMO7	4008	genome.wustl.edu	37	chr13	76381810	76381810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagagaatgatgatttctTtgtcagaaagactggggctt	11	5	2	5			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr13:76381810T>C	ENST00000321797.8	+	8	1413	c.692T>C	c.(691-693)tTt>tCt	p.F231S	LMO7_ENST00000526202.1_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.F231S|LMO7_ENST00000357063.3_Missense_Mutation_p.F516S|LMO7_ENST00000377534.3_Missense_Mutation_p.F516S|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	516					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GATGATTTCTTTGTCAGAAAG	0.443																																																	0								ENSG00000136153						86	81	83					13																	76381810		1568	3582	5150	LMO7	SO:0001583	missense	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.692T>C	13.37:g.76381810T>C	ENSP00000317802:p.Phe231Ser	Somatic	0	65	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP							pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.F516S	ENST00000321797.8	37	c.1547		13	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574614	0.86542	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526528	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.83	5.83	0.93111	.	0.053706	0.85682	D	0.000000	T	0.68714	0.3031	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	P;P	0.60949	0.881;0.881	T	0.72250	-0.4348	10	0.87932	D	0	-19.7539	16.1968	0.82036	0.0:0.0:0.0:1.0	.	516;231	Q8WWI1;E9PLH4	LMO7_HUMAN;.	S	516;516;231;231;137	ENSP00000349571:F516S;ENSP00000366757:F516S;ENSP00000317802:F231S;ENSP00000433352:F231S	ENSP00000317802:F231S	F	+	2	0	LMO7	75279811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.225000	0.72522	0.533000	0.62120	TTT	-	NULL		0.443	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	T	NM_005358	-		76381810	1	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76381810	T	C	76381810	3	2	221	1	0	0	0	0	1	0	0	0	8857	1841	64	5	1589	5	LMO7	13	76381810	Missense_Mutation	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	33988455	76381810	38788068	66	17917											
MYO16	23026	genome.wustl.edu	37	chr13	109772771	109772771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgctgaccaactcaatgaTttgtgcctacagttgcagag	9	10	1	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr13:109772771T>A	ENST00000357550.2	+	28	3467	c.3426T>A	c.(3424-3426)gaT>gaA	p.D1142E	MYO16_ENST00000356711.2_Missense_Mutation_p.D1142E|MYO16_ENST00000457511.2_Missense_Mutation_p.D654E	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)			AACTCAATGATTTGTGCCTAC	0.348																																																	0								ENSG00000041515						122	116	118					13																	109772771		2203	4300	6503	MYO16	SO:0001583	missense	0			-	HGNC		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.3426T>A	13.37:g.109772771T>A	ENSP00000350160:p.Asp1142Glu	Somatic	0	48	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00		Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1142E	ENST00000357550.2	37	c.3426	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937266	0.52972	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.94758	-3.51;-3.51;-3.51	5.38	-2.77	0.05877	Myosin head, motor domain (1);	0.000000	0.41938	U	0.000796	D	0.94696	0.8289	M	0.62723	1.935	0.37086	D	0.899209	D;D	0.76494	0.991;0.999	P;D	0.72338	0.895;0.977	D	0.91839	0.5482	9	.	.	.	.	7.6607	0.28402	0.1275:0.5414:0.0:0.3311	.	654;1142	F8W883;Q9Y6X6	.;MYO16_HUMAN	E	1142;1142;654	ENSP00000349145:D1142E;ENSP00000350160:D1142E;ENSP00000401633:D654E	.	D	+	3	2	MYO16	108570772	0.384000	0.25164	0.013000	0.15412	0.836000	0.47400	-0.128000	0.10531	-0.518000	0.06452	-1.413000	0.01118	GAT	-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.348	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	T	NM_015011	-		109772771	1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	SNP	0.880	A	A	109772771	T	A	109772771	3	1	221	1	0	0	0	0	1	0	0	0	10066	1490	52	5	3536	5	MYO16	13	109772771	Missense_Mutation	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	33390961	109772771	5397107	67	17918											
ATP11A	23250	genome.wustl.edu	37	chr13	113527954	113527954	+	Frame_Shift_Del	DEL	A	A	-													ctgggggtcgctgctgttctAcgttgtcttttcgcttctct							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr13:113527954delA	ENST00000487903.1	+	27	3213	c.3125delA	c.(3124-3126)tacfs	p.Y1042fs	ATP11A_ENST00000283558.8_Frame_Shift_Del_p.Y1042fs|ATP11A_ENST00000375645.3_Frame_Shift_Del_p.Y1042fs|ATP11A_ENST00000375630.2_Frame_Shift_Del_p.Y1042fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1042					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCTGTTCTACGTTGTCTTT	0.398											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000068650						223	184	197					13																	113527954		2203	4300	6503	ATP11A	SO:0001589	frameshift_variant	0				HGNC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3125delA	13.37:g.113527954delA	ENSP00000420387:p.Tyr1042fs	Somatic	0	63	0	1451	0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q5VXT2	Frame_Shift_Del	DEL							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Y1042fs	ENST00000487903.1	37	c.3125	CCDS32011.1	13																																																																																			-	tigrfam_ATPase_P-typ_Plipid-transp		0.398	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	protein_coding	OTTHUMT00000045834.3	A	NM_015205			113527954	1	no_errors	ENST00000375630	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	113527954	A	-	113527954	7	5	221	1	0	1	0	1	0	0	0	0	1119	391	14	0	3231	0	ATP11A	13	113527954	Frame_Shift_Del	DEL	A	TCGA-WK-A8XO-01A-11D-A37C-09	3755183	113527954	1641924	68	17919											
DCUN1D2	55208	genome.wustl.edu	37	chr13	114115427	114115428	+	Frame_Shift_Ins	INS	-	-	A													tccagataacactaatttccINSaatacgcaacagccatttct							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr13:114115427_114115428insA	ENST00000478244.1	-	5	826_827	c.544_545insT	c.(544-546)tggfs	p.W182fs	DCUN1D2_ENST00000332592.3_Frame_Shift_Ins_p.W49fs	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	182	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CACTAATTTCCAATACGCAACA	0.396																																																	0								ENSG00000150401																																			DCUN1D2	SO:0001589	frameshift_variant	0				HGNC	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.545dupT	13.37:g.114115429_114115429dupA	ENSP00000417706:p.Trp182fs	Somatic	0	27	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	8	20.00	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Frame_Shift_Ins	INS							pfam_PONY_dom,superfamily_UBA-like	p.W182fs	ENST00000478244.1	37	c.545_544	CCDS32013.1	13																																																																																			-	pfam_PONY_dom		0.396	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D2	protein_coding	OTTHUMT00000045938.4	-	NM_018185			114115428	-1	no_errors	ENST00000478244	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	114115428	-	A	114115427	7	5	221	1	0	1	1	0	0	0	0	0	4316	595	21	0	246	0	DCUN1D2	13	114115427	Frame_Shift_Ins	INS	-	TCGA-WK-A8XO-01A-11D-A37C-09	587473	114115427	1054451	69	17920											
WDR89	112840	genome.wustl.edu	37	chr14	64066442	64066442	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaaatctgactccattAagaagtccaggatatccact	6	10	1	2	rs140593114		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr14:64066442A>T	ENST00000394942.2	-	2	307	c.219T>A	c.(217-219)ctT>ctA	p.L73L	WDR89_ENST00000267522.3_Silent_p.L73L|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	73										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TGACTCCATTAAGAAGTCCAG	0.373																																																	0								ENSG00000140006						60	61	61					14																	64066442		2203	4300	6503	WDR89	SO:0001819	synonymous_variant	0			-	HGNC	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.219T>A	14.37:g.64066442A>T		Somatic	0	78	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L73	ENST00000394942.2	37	c.219	CCDS9759.1	14																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.373	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	WDR89	protein_coding	OTTHUMT00000411879.2	A	NM_080666	-		64066442	-1	no_errors	ENST00000267522	ensembl	human	known	74_37	silent	SNP	0.760	T	T	64066442	A	T	64066442	2	4	221	1	0	0	0	0	0	0	0	1	17343	349	13	5		5	WDR89	14	64066442	Silent	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09		64066442	43283098	70	17921											
ARG2	384	genome.wustl.edu	37	chr14	68117433	68117433	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacactttgttcttccaggGttgctatcagcactggatct	8	11	4	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr14:68117433G>A	ENST00000261783.3	+	8	1041	c.861G>A	c.(859-861)ggG>ggA	p.G287G	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	287					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCTTCCAGGGTTGCTATCAG	0.488																																																	0								ENSG00000081181						103	95	98					14																	68117433		2203	4300	6503	ARG2	SO:0001630	splice_region_variant	0			-	HGNC	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.860-1G>A	14.37:g.68117433G>A		Somatic	0	27	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	B2R690|Q6FHY8	Silent	SNP							pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.G287	ENST00000261783.3	37	c.861	CCDS9785.1	14																																																																																			-	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase		0.488	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	protein_coding	OTTHUMT00000415190.2	G	NM_001172	-	Silent	68117433	1	no_errors	ENST00000261783	ensembl	human	known	74_37	silent	SNP	0.687	A	A	68117433	G	A	68117433	5	1	221	1	0	0	0	0	0	0	1	0	858	1275	44	2	891	2	ARG2	14	68117433	Splice_Site	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	4050991	68117433	39232107	71	17922											
HEATR4	399671	genome.wustl.edu	37	chr14	73962072	73962072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtgtcagcaagtccTtttggcttagtgttttaatc	9	6	1	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr14:73962072T>G	ENST00000553558.1	-	16	2966	c.2645A>C	c.(2644-2646)aAg>aCg	p.K882T	HEATR4_ENST00000334988.2_Missense_Mutation_p.K882T|C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.K835T	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	882										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)		CAGCAAGTCCTTTTGGCTTAG	0.348																																																	0								ENSG00000187105						123	109	114					14																	73962072		2203	4300	6503	HEATR4	SO:0001583	missense	0			-	HGNC	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.2645A>C	14.37:g.73962072T>G	ENSP00000450444:p.Lys882Thr	Somatic	0	76	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	B7Z7V9|E9KL41	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold	p.K882T	ENST00000553558.1	37	c.2645	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938549	0.52972	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.13307	2.6	4.82	4.82	0.62117	Armadillo-type fold (1);	0.000000	0.52532	D	0.000078	T	0.23806	0.0576	L	0.27053	0.805	0.32417	N	0.549903	D	0.89917	1.0	D	0.83275	0.996	T	0.15896	-1.0421	10	0.87932	D	0	-17.9489	12.0061	0.53259	0.0:0.0:0.0:1.0	.	882	Q86WZ0	HEAT4_HUMAN	T	882;835	ENSP00000450444:K882T	ENSP00000335447:K835T	K	-	2	0	HEATR4	73031825	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	2.584000	0.46102	2.029000	0.59856	0.459000	0.35465	AAG	-	superfamily_ARM-type_fold		0.348	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	protein_coding	OTTHUMT00000414422.2	T	NM_203309	-		73962072	-1	no_errors	ENST00000334988	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73962072	T	G	73962072	3	3	221	1	0	0	0	0	1	0	0	0	7032	1609	56	5	447	5	HEATR4	14	73962072	Missense_Mutation	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	5844639	73962072	33387468	72	17923											
NRXN3	9369	genome.wustl.edu	37	chr14	80328258	80328258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagcagagctcgaAgagcggccacaagaaacaga	14	9	0	5	rs200832810		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr14:80328258A>G	ENST00000557594.1	+	6	2818	c.1865A>G	c.(1864-1866)aAg>aGg	p.K622R	NRXN3_ENST00000428277.2_Missense_Mutation_p.K444R|NRXN3_ENST00000554719.1_Missense_Mutation_p.K1046R|NRXN3_ENST00000335750.5_Missense_Mutation_p.K1046R|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Missense_Mutation_p.K417R	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	622					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)		CAGAGCTCGAAGAGCGGCCAC	0.522																																																	0								ENSG00000021645						78	81	80					14																	80328258		2203	4300	6503	NRXN3	SO:0001583	missense	0			GMAF=0	HGNC	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.1865A>G	14.37:g.80328258A>G	ENSP00000451672:p.Lys622Arg	Somatic	0	17	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	36.36	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1046R	ENST00000557594.1	37	c.3137		14	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	16.99	3.273327	0.59649	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.70986	-0.53;-0.53;1.03;1.24;1.04	5.9	5.9	0.94986	.	0.108957	0.64402	D	0.000009	T	0.75606	0.3872	M	0.61703	1.905	0.40838	D	0.983641	P;P;D;B	0.57899	0.902;0.952;0.981;0.122	B;P;P;B	0.50537	0.318;0.6;0.643;0.173	T	0.76761	-0.2840	9	.	.	.	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	444;417;622;1046	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	R	1628;1046;1046;622;417;444	ENSP00000451648:K1046R;ENSP00000338349:K1046R;ENSP00000451672:K622R;ENSP00000281127:K417R;ENSP00000394426:K444R	.	K	+	2	0	NRXN3	79398011	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	AAG	-	NULL		0.522	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	protein_coding	OTTHUMT00000413790.1	A	NM_001105250	rs200832810		80328258	1	no_errors	ENST00000335750	ensembl	human	known	74_37	missense	SNP	1.000	G	G	80328258	A	G	80328258	3	3	221	1	0	0	0	0	1	0	0	0	10669	72	3	5	3549	5	NRXN3	14	80328258	Missense_Mutation	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	6366186	80328258	27021282	73	17924											
GALC	2581	genome.wustl.edu	37	chr14	88454857	88454857	+	Frame_Shift_Del	DEL	C	C	-													ctgggtaatttactagaagtCgggaggttgcctaaaaaaaa					rs371523347		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr14:88454857delC	ENST00000261304.2	-	2	312	c.206delG	c.(205-207)cgafs	p.R69fs	GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393569.2_Frame_Shift_Del_p.R43fs|GALC_ENST00000544807.2_Frame_Shift_Del_p.R13fs|GALC_ENST00000393568.4_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	69					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACTAGAAGTCGGGAGGTTGC	0.343																																																	0								ENSG00000054983						88	87	88					14																	88454857		1804	4067	5871	GALC	SO:0001589	frameshift_variant	0				HGNC	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.206delG	14.37:g.88454857delC	ENSP00000261304:p.Arg69fs	Somatic	0	39	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	8	20.00	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Frame_Shift_Del	DEL							pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59	p.R69fs	ENST00000261304.2	37	c.206	CCDS9878.2	14																																																																																			-	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF		0.343	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	protein_coding	OTTHUMT00000071559.2	C				88454857	-1	no_errors	ENST00000261304	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	88454857	C	-	88454857	7	5	221	1	0	1	0	1	0	0	0	0	6203	884	31	0	1978	0	GALC	14	88454857	Frame_Shift_Del	DEL	C	TCGA-WK-A8XO-01A-11D-A37C-09	8126599	88454857	18894683	74	17925											
SMAD3	4088	genome.wustl.edu	37	chr15	67358628	67358628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaaactcaagaagacgGggcagctggacgagctggag	15	8	2	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr15:67358628G>T	ENST00000327367.4	+	1	446	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	46	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAAGAAGACGGGGCAGCTGGA	0.642																																																	0								ENSG00000166949						88	86	87					15																	67358628		2201	4298	6499	SMAD3	SO:0001583	missense	0			-	HGNC	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.136G>T	15.37:g.67358628G>T	ENSP00000332973:p.Gly46Trp	Somatic	0	50	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP							pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.G46W	ENST00000327367.4	37	c.136	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512157	0.85389	.	.	ENSG00000166949	ENST00000327367;ENST00000535241	T	0.73047	-0.71	4.09	4.09	0.47781	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.91972	3.26	0.80722	D	1	D	0.58970	0.984	D	0.64237	0.923	D	0.89785	0.3964	10	0.87932	D	0	.	15.8154	0.78595	0.0:0.0:1.0:0.0	.	46	P84022	SMAD3_HUMAN	W	46	ENSP00000332973:G46W	ENSP00000332973:G46W	G	+	1	0	SMAD3	65145682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.203000	0.95033	2.254000	0.74563	0.555000	0.69702	GGG	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.642	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	protein_coding	OTTHUMT00000256967.2	G	NM_005902	-		67358628	1	no_errors	ENST00000327367	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67358628	G	T	67358628	3	4	221	1	0	0	0	0	1	0	0	0	14767	1232	43	3	138	3	SMAD3	15	67358628	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		67358628	35172764	75	17926											
IFT140	9742	genome.wustl.edu	37	chr16	1612085	1612085	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaagccgtgctcttcGgaaatgaagaaggacaggat	14	7	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:1612085G>T	ENST00000426508.2	-	18	2463	c.2100C>A	c.(2098-2100)tcC>tcA	p.S700S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	700					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGTGCTCTTCGGAAATGAAGA	0.458																																																	0								ENSG00000187535						66	67	67					16																	1612085		2199	4300	6499	IFT140	SO:0001819	synonymous_variant	0			-	HGNC	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2100C>A	16.37:g.1612085G>T		Somatic	0	34	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S700	ENST00000426508.2	37	c.2100	CCDS10439.1	16																																																																																			-	NULL		0.458	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	protein_coding	OTTHUMT00000250438.2	G	NM_014714	-		1612085	-1	no_errors	ENST00000426508	ensembl	human	known	74_37	silent	SNP	0.090	T	T	1612085	G	T	1612085	2	4	221	1	0	0	0	0	0	0	0	1	7558	1103	39	3		3	IFT140	16	1612085	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		1612085	88742668	76	17927											
SMG1	23049	genome.wustl.edu	37	chr16	18859323	18859323	+	Frame_Shift_Del	DEL	G	G	-													ttctccttgaatattgccaaGtaaagttggaattgcagtgg							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:18859323delG	ENST00000446231.2	-	37	6068	c.5656delC	c.(5656-5658)cttfs	p.L1886fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.L1886fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1886	Interaction with SMG8 and SMG9.				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						ATATTGCCAAGTAAAGTTGGA	0.383																																																	0								ENSG00000157106						85	79	81					16																	18859323		1824	4085	5909	SMG1	SO:0001589	frameshift_variant	0				HGNC	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.5656delC	16.37:g.18859323delG	ENSP00000402515:p.Leu1886fs	Somatic	0	58	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL							pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1887fs	ENST00000446231.2	37	c.5656	CCDS45430.1	16																																																																																			-	superfamily_ARM-type_fold		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	protein_coding	OTTHUMT00000391817.1	G	NM_015092			18859323	-1	no_errors	ENST00000389467	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	18859323	G	-	18859323	7	5	221	1	0	1	0	1	0	0	0	0	14803	1029	36	0	5437	0	SMG1	16	18859323	Frame_Shift_Del	DEL	G	TCGA-WK-A8XO-01A-11D-A37C-09	17247238	18859323	71495430	77	17928											
UQCRC2	7385	genome.wustl.edu	37	chr16	21973817	21973817	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacatggcttatactgtGgaatgcctgcggggtgatgt	14	6	0	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:21973817G>T	ENST00000268379.4	+	5	1133	c.369G>T	c.(367-369)gtG>gtT	p.V123V	UQCRC2_ENST00000561553.1_Silent_p.V123V	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	123					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|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)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTTATACTGTGGAATGCCTGC	0.408																																					Colon(123;450 1645 12841 25393 45623)												0								ENSG00000140740						235	204	215					16																	21973817		2198	4300	6498	UQCRC2	SO:0001819	synonymous_variant	0			-	HGNC	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.369G>T	16.37:g.21973817G>T		Somatic	0	95	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KSN4|Q9BQ05	Silent	SNP							pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.V123	ENST00000268379.4	37	c.369	CCDS10601.1	16																																																																																			-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16		0.408	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	protein_coding	OTTHUMT00000254466.1	G	NM_003366	-		21973817	1	no_errors	ENST00000268379	ensembl	human	known	74_37	silent	SNP	0.987	T	T	21973817	G	T	21973817	2	4	221	1	0	0	0	0	0	0	0	1	17027	1335	47	3		3	UQCRC2	16	21973817	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	3114494	21973817	68380936	78	17929											
CLN3	1201	genome.wustl.edu	37	chr16	28495386	28495386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggctgcgctctctgctTcttcttcccctccagggtcc	10	18	3	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:28495386T>C	ENST00000569430.1	-	11	1550	c.731A>G	c.(730-732)gAa>gGa	p.E244G	CLN3_ENST00000333496.9_Missense_Mutation_p.E220G|CLN3_ENST00000354630.5_Missense_Mutation_p.E244G|CLN3_ENST00000535392.1_Missense_Mutation_p.E166G|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000567963.1_Missense_Mutation_p.E244G|CLN3_ENST00000565316.1_Missense_Mutation_p.E244G|CLN3_ENST00000359984.7_Missense_Mutation_p.E244G|CLN3_ENST00000568224.1_Missense_Mutation_p.E166G|CLN3_ENST00000357806.7_Missense_Mutation_p.E145G|CLN3_ENST00000395653.4_Missense_Mutation_p.E144G|CLN3_ENST00000360019.2_Missense_Mutation_p.E244G|CLN3_ENST00000355477.5_Missense_Mutation_p.E196G|CLN3_ENST00000357857.9_Missense_Mutation_p.E190G			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	244					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GCTCTCTGCTTCTTCTTCCCC	0.567																																																	0								ENSG00000188603						47	44	45					16																	28495386		2197	4300	6497	CLN3	SO:0001583	missense	0			-	HGNC	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"juvenile neuronal ceroid lipofuscinosis"	607042	"Batten, Spielmeyer-Vogt disease"	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.731A>G	16.37:g.28495386T>C	ENSP00000454229:p.Glu244Gly	Somatic	0	82	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP							pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.E244G	ENST00000569430.1	37	c.731	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405265	0.25378	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000333496;ENST00000395653;ENST00000357806	D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	5.28	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);	0.432694	0.24654	N	0.036690	D	0.95001	0.8382	L	0.28608	0.87	0.24027	N	0.996121	D;B;B;B;P;D;P;B;B;B;B;B;B	0.59767	0.961;0.001;0.001;0.001;0.918;0.986;0.762;0.101;0.002;0.0;0.001;0.0;0.083	P;B;B;B;P;D;P;B;B;B;B;B;B	0.64144	0.721;0.006;0.004;0.005;0.697;0.922;0.565;0.119;0.01;0.004;0.004;0.002;0.07	D	0.87729	0.2578	10	0.72032	D	0.01	-9.5191	6.2956	0.21085	0.1549:0.0:0.1598:0.6853	.	144;220;244;244;295;91;121;142;144;190;196;244;145	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95093;O95090;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;.;.;.;.;.;CLN3_HUMAN;.	G	166;244;244;244;196;190;121;144;145	ENSP00000443221:E166G;ENSP00000353073:E244G;ENSP00000353116:E244G;ENSP00000346650:E244G;ENSP00000347660:E196G;ENSP00000350523:E190G;ENSP00000379014:E144G;ENSP00000350457:E145G	ENSP00000329171:E121G	E	-	2	0	CLN3	28402887	0.195000	0.23338	0.879000	0.34478	0.335000	0.28730	1.314000	0.33597	2.004000	0.58718	0.454000	0.30748	GAA	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr		0.567	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	protein_coding	OTTHUMT00000214115.2	T		-		28495386	-1	no_errors	ENST00000359984	ensembl	human	known	74_37	missense	SNP	0.077	C	C	28495386	T	C	28495386	3	2	221	1	0	0	0	0	1	0	0	0	3545	1783	62	5	613	5	CLN3	16	28495386	Missense_Mutation	SNP	T	TCGA-WK-A8XO-01A-11D-A37C-09	6521569	28495386	61859367	79	17930											
IL27	246778	genome.wustl.edu	37	chr16	28513296	28513296	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggtggccgggctctaCctggaagcggaggtgccgct	19	10	1	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:28513296C>T	ENST00000356897.1	-	4	485		c.e4+1			NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27						inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CCGGGCTCTACCTGGAAGCGG	0.632																																																	0								ENSG00000197272						100	106	104					16																	28513296		2197	4300	6497	IL27	SO:0001630	splice_region_variant	0			-	HGNC	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"Interleukins and interleukin receptors"	19157	protein-coding gene	gene with protein product		608273	"interleukin 30"	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.462+1G>A	16.37:g.28513296C>T		Somatic	0	64	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B1AM69	Splice_Site	SNP							-	e4+1	ENST00000356897.1	37	c.462+1	CCDS10633.1	16	.	.	.	.	.	.	.	.	.	.	C	9.384	1.073737	0.20147	.	.	ENSG00000197272	ENST00000356897	.	.	.	3.52	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4612	0.44581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL27	28420797	1.000000	0.71417	0.981000	0.43875	0.147000	0.21601	3.215000	0.51169	1.811000	0.52892	0.281000	0.19383	.	-	-		0.632	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27	protein_coding	OTTHUMT00000214114.1	C	NM_145659	-	Intron	28513296	-1	no_errors	ENST00000356897	ensembl	human	known	74_37	splice_site	SNP	0.993	T	T	28513296	C	T	28513296	5	4	221	1	0	0	0	0	0	0	1	0	7682	521	18	2	276	2	IL27	16	28513296	Splice_Site	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	17910	28513296	61841457	80	17931											
ZFHX3	463	genome.wustl.edu	37	chr16	72830503	72830503	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgggtacagtttatcGtagtggtctctgtactgttt	11	7	2	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:72830503G>T	ENST00000268489.5	-	9	6750	c.6078C>A	c.(6076-6078)taC>taA	p.Y2026*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Y1112*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2026					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)			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)				ACAGTTTATCGTAGTGGTCTC	0.552																																																	0								ENSG00000140836						77	82	80					16																	72830503		2198	4300	6498	ZFHX3	SO:0001587	stop_gained	0			-	HGNC	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.6078C>A	16.37:g.72830503G>T	ENSP00000268489:p.Tyr2026*	Somatic	0	109	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Y2026*	ENST00000268489.5	37	c.6078	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	45	11.883379	0.99613	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.38	-8.63	0.00878	.	0.000000	0.42548	D	0.000691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6985	0.96043	0.3817:0.0:0.6183:0.0	.	.	.	.	X	2026;1112	.	ENSP00000268489:Y2026X	Y	-	3	2	ZFHX3	71388004	0.783000	0.28701	0.760000	0.31359	0.090000	0.18270	0.032000	0.13732	-1.750000	0.01328	-1.731000	0.00696	TAC	-	superfamily_Adenylate_cyclase-assoc_CAP_N		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	G	NM_006885	-		72830503	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	nonsense	SNP	0.745	T	T	72830503	G	T	72830503	4	4	221	1	0	0	0	0	0	1	0	0	17641	1140	40	3	5041	3	ZFHX3	16	72830503	Nonsense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	44317207	72830503	17524250	81	17932											
BANP	54971	genome.wustl.edu	37	chr16	88066823	88066823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcaggtgcagatccaccAgatcggagaagacggacagg	14	10	0	4			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr16:88066823A>G	ENST00000393207.1	+	9	1369	c.1148A>G	c.(1147-1149)cAg>cGg	p.Q383R	BANP_ENST00000538234.1_Missense_Mutation_p.Q391R|BANP_ENST00000355022.4_Missense_Mutation_p.Q352R|BANP_ENST00000286122.7_Missense_Mutation_p.Q383R|BANP_ENST00000393208.2_Missense_Mutation_p.Q352R|BANP_ENST00000355163.5_Missense_Mutation_p.Q358R|BANP_ENST00000479780.2_Missense_Mutation_p.Q352R	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	383	DNA-binding. {ECO:0000250}.|Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CAGATCCACCAGATCGGAGAA	0.672																																																	0								ENSG00000172530						36	29	32					16																	88066823		2197	4300	6497	BANP	SO:0001583	missense	0			-	HGNC	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1148A>G	16.37:g.88066823A>G	ENSP00000376902:p.Gln383Arg	Somatic	0	96	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP							pfam_BEN_domain	p.Q383R	ENST00000393207.1	37	c.1148	CCDS54054.1	16	.	.	.	.	.	.	.	.	.	.	A	9.254	1.041429	0.19669	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	4.43	4.43	0.53597	.	0.061467	0.64402	D	0.000002	T	0.65428	0.2690	L	0.36672	1.1	0.40798	D	0.983316	D;D;B;D;B;B	0.60160	0.987;0.985;0.003;0.976;0.002;0.007	D;D;B;D;B;B	0.72625	0.953;0.978;0.002;0.943;0.005;0.013	T	0.67197	-0.5731	9	0.46703	T	0.11	.	13.1652	0.59567	1.0:0.0:0.0:0.0	.	391;358;352;383;352;352	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	R	383;358;348;352;352;352;352;391;383	.	ENSP00000286122:Q383R	Q	+	2	0	BANP	86624324	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.851000	0.69481	1.770000	0.52166	0.254000	0.18369	CAG	-	NULL		0.672	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	protein_coding	OTTHUMT00000269166.1	A	NM_017869	-		88066823	1	no_errors	ENST00000286122	ensembl	human	known	74_37	missense	SNP	1.000	G	G	88066823	A	G	88066823	3	3	221	1	0	0	0	0	1	0	0	0	1310	188	7	5	1220	5	BANP	16	88066823	Missense_Mutation	SNP	A	TCGA-WK-A8XO-01A-11D-A37C-09	15236320	88066823	2287930	82	17933											
MINK1	50488	genome.wustl.edu	37	chr17	4787752	4787752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgtatcgcctatatctGcagggagatcctcagggtga	13	9	2	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr17:4787752G>A	ENST00000355280.6	+	5	597	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	MINK1_ENST00000347992.7_Missense_Mutation_p.C134Y|MINK1_ENST00000453408.3_Missense_Mutation_p.C134Y|RN7SL784P_ENST00000577319.1_RNA	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCCTATATCTGCAGGGAGATC	0.557																																																	0								ENSG00000141503						119	121	120					17																	4787752		2042	4190	6232	MINK1	SO:0001583	missense	0			-	HGNC	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.401G>A	17.37:g.4787752G>A	ENSP00000347427:p.Cys134Tyr	Somatic	0	50	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.C134Y	ENST00000355280.6	37	c.401	CCDS45588.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167928	0.78339	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.64803	-0.12;-0.12;-0.12	4.87	4.87	0.63330	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	0.80444	0.4624	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.994;0.996;0.994	D	0.83477	0.0062	10	0.87932	D	0	.	15.5494	0.76137	0.0:0.0:1.0:0.0	.	134;134;134;134	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	Y	134	ENSP00000347427:C134Y;ENSP00000406487:C134Y;ENSP00000269296:C134Y	ENSP00000269296:C134Y	C	+	2	0	MINK1	4728535	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.958000	0.56737	2.555000	0.86185	0.455000	0.32223	TGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.557	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	protein_coding	OTTHUMT00000439801.1	G	NM_015716	-		4787752	1	no_errors	ENST00000355280	ensembl	human	known	74_37	missense	SNP	1.000	A	A	4787752	G	A	4787752	3	1	221	1	0	0	0	0	1	0	0	0	9589	1319	46	2	158	2	MINK1	17	4787752	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		4787752	76407458	83	17934											
NPTX1	4884	genome.wustl.edu	37	chr17	78447240	78447240	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctccagggcggttgtctttCtgacctgcggaagacacagt	12	11	3	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr17:78447240C>A	ENST00000306773.4	-	3	814	c.657G>T	c.(655-657)caG>caT	p.Q219H	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	219					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGTTGTCTTTCTGACCTGCGG	0.547																																																	0								ENSG00000171246						208	174	186					17																	78447240		2203	4300	6503	NPTX1	SO:0001583	missense	0			-	HGNC	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.657G>T	17.37:g.78447240C>A	ENSP00000307549:p.Gln219His	Somatic	0	90	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B3KXH3|Q5FWE6	Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Q219H	ENST00000306773.4	37	c.657	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301287	0.40694	.	.	ENSG00000171246	ENST00000306773	T	0.10192	2.9	4.84	3.85	0.44370	.	0.301359	0.32593	N	0.005886	T	0.09379	0.0231	L	0.44542	1.39	0.50632	D	0.999885	P	0.36438	0.553	B	0.35510	0.204	T	0.21690	-1.0238	10	0.14252	T	0.57	-22.3546	12.3291	0.55028	0.0:0.9136:0.0:0.0864	.	219	Q15818	NPTX1_HUMAN	H	219	ENSP00000307549:Q219H	ENSP00000307549:Q219H	Q	-	3	2	NPTX1	76061835	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	0.533000	0.23082	2.221000	0.72209	0.511000	0.50034	CAG	-	NULL		0.547	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	protein_coding	OTTHUMT00000438051.1	C		-		78447240	-1	no_errors	ENST00000306773	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78447240	C	A	78447240	3	1	221	1	0	0	0	0	1	0	0	0	10604	912	32	3	653	3	NPTX1	17	78447240	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	73659488	78447240	2747970	84	17935											
DSC3	1825	genome.wustl.edu	37	chr18	28588458	28588458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgtttactccaatttccaGgttcacttgacggttttctt	6	9	2	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr18:28588458G>T	ENST00000360428.4	-	10	1377	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	DSC3_ENST00000434452.1_Missense_Mutation_p.L433M	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	433	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCAATTTCCAGGTTCACTTGA	0.403																																																	0								ENSG00000134762						117	112	114					18																	28588458		2203	4300	6503	DSC3	SO:0001583	missense	0			-	HGNC	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1297C>A	18.37:g.28588458G>T	ENSP00000353608:p.Leu433Met	Somatic	0	46	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.L433M	ENST00000360428.4	37	c.1297	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296606	0.60086	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.58652	0.32;0.32	5.35	2.63	0.31362	Cadherin (5);Cadherin-like (1);	0.000000	0.27139	N	0.020745	T	0.81842	0.4908	H	0.97635	4.045	0.45704	D	0.998615	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.83586	0.0120	10	0.87932	D	0	.	9.652	0.39904	0.2789:0.0:0.7211:0.0	.	433;433	Q14574;Q14574-2	DSC3_HUMAN;.	M	433	ENSP00000353608:L433M;ENSP00000392068:L433M	ENSP00000353608:L433M	L	-	1	2	DSC3	26842456	0.633000	0.27181	0.925000	0.36789	0.998000	0.95712	0.732000	0.26072	0.504000	0.28082	0.655000	0.94253	CTG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.403	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	protein_coding	OTTHUMT00000447384.1	G	NM_001941, NM_024423	-		28588458	-1	no_errors	ENST00000360428	ensembl	human	known	74_37	missense	SNP	0.751	T	T	28588458	G	T	28588458	3	4	221	1	0	0	0	0	1	0	0	0	4769	991	35	3	1452	3	DSC3	18	28588458	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		28588458	49488790	85	17936											
ELANE	1991	genome.wustl.edu	37	chr19	855742	855742	+	Frame_Shift_Del	DEL	G	G	-													ggtggtgacgtccctctgccGtcgcagcaacgtctgcactc					rs200449787		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:855742delG	ENST00000590230.1	+	5	686	c.545delG	c.(544-546)cgtfs	p.R183fs	ELANE_ENST00000263621.1_Frame_Shift_Del_p.R183fs			P08246	ELNE_HUMAN	elastase, neutrophil expressed	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCCTCTGCCGTCGCAGCAAC	0.692																																																	0								ENSG00000197561						65	59	61					19																	855742		2202	4297	6499	ELANE	SO:0001589	frameshift_variant	0				HGNC		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.545delG	19.37:g.855742delG	ENSP00000466090:p.Arg183fs	Somatic	0	64	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	P09649|Q6B0D9|Q6LDP5	Frame_Shift_Del	DEL							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R182fs	ENST00000590230.1	37	c.545	CCDS12045.1	19																																																																																			-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.692	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	protein_coding	OTTHUMT00000457890.2	G	NM_001972			855742	1	no_errors	ENST00000263621	ensembl	human	known	74_37	frame_shift_del	DEL	0.109	-	-	855742	G	-	855742	7	5	221	1	0	1	0	1	0	0	0	0	5050	1145	40	0	559	0	ELANE	19	855742	Frame_Shift_Del	DEL	G	TCGA-WK-A8XO-01A-11D-A37C-09		855742	58273241	86	17937											
WDR18	57418	genome.wustl.edu	37	chr19	985925	985925	+	Frame_Shift_Del	DEL	A	A	-													cctgtctgactgcatcacccAatggtctctacgtcctggca							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:985925delA	ENST00000251289.5	+	2	294	c.271delA	c.(271-273)aatfs	p.N91fs	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Frame_Shift_Del_p.N91fs	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	91					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		TGCATCACCCAATGGTCTCTA	0.577																																																	0								ENSG00000065268						138	110	119					19																	985925		2203	4300	6503	WDR18	SO:0001589	frameshift_variant	0				HGNC		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.271delA	19.37:g.985925delA	ENSP00000251289:p.Asn91fs	Somatic	0	57	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	O60390|Q9BWR2	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N91fs	ENST00000251289.5	37	c.271	CCDS12051.1	19																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.577	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	protein_coding	OTTHUMT00000458225.2	A				985925	1	no_errors	ENST00000251289	ensembl	human	known	74_37	frame_shift_del	DEL	0.989	-	-	985925	A	-	985925	7	5	221	1	0	1	0	1	0	0	0	0	17285	130	5	0	277	0	WDR18	19	985925	Frame_Shift_Del	DEL	A	TCGA-WK-A8XO-01A-11D-A37C-09	130183	985925	58143058	87	17938											
LMNB2	84823	genome.wustl.edu	37	chr19	2435112	2435112	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcgtactcctgctgccGgctgctgtccacctccacca	9	17	0	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:2435112G>T	ENST00000582871.1	-	5	768	c.682C>A	c.(682-684)Cgg>Agg	p.R228R	LMNB2_ENST00000325327.3_Silent_p.R248R	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	228	Linker 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TCCTGCTGCCGGCTGCTGTCC	0.692																																																	0								ENSG00000176619						37	40	39					19																	2435112		2202	4299	6501	LMNB2	SO:0001819	synonymous_variant	0			-	HGNC	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.682C>A	19.37:g.2435112G>T		Somatic	0	20	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	O75292|Q14734|Q96DF6	Silent	SNP							pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.R248	ENST00000582871.1	37	c.742		19																																																																																			-	pfam_IF		0.692	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	protein_coding		G	NM_032737	-		2435112	-1	no_errors	ENST00000325327	ensembl	human	known	74_37	silent	SNP	1.000	T	T	2435112	G	T	2435112	2	4	221	1	0	0	0	0	0	0	0	1	8852	1115	39	3		3	LMNB2	19	2435112	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	1449187	2435112	56693871	88	17939											
FBN3	84467	genome.wustl.edu	37	chr19	8193949	8193949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgccagaagtggaagccGggggggcaggagcagctgta	18	9	0	1	rs60853419		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:8193949G>A	ENST00000600128.1	-	18	2673	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	FBN3_ENST00000601739.1_Silent_p.P753P|FBN3_ENST00000270509.2_Silent_p.P753P			Q75N90	FBN3_HUMAN	fibrillin 3	753	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTGGAAGCCGGGGGGGCAGG	0.597													g|||	1	0.000199681	0	0	5008	,	,		18394	0.001		0	False		,,,				2504	0																0								ENSG00000142449	A		0,4406		0,0,2203	43	48	46		2259	-3	0.2	19	dbSNP_129	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FBN3	NM_032447.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		753/2810	8193949	2,13004	2203	4300	6503	FBN3	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2259C>T	19.37:g.8193949G>A		Somatic	0	79	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	36.36	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.P753	ENST00000600128.1	37	c.2259	CCDS12196.1	19																																																																																			-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447	rs60853419		8193949	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	SNP	0.646	A	A	8193949	G	A	8193949	2	1	221	1	0	0	0	0	0	0	0	1	5706	1103	39	1		1	FBN3	19	8193949	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	5758837	8193949	50935034	89	17940											
SLC44A2	57153	genome.wustl.edu	37	chr19	10753122	10753122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacacgctgttcctctGcttctgtgagtgacccctca	10	13	3	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:10753122G>A	ENST00000335757.5	+	21	2385	c.2009G>A	c.(2008-2010)tGc>tAc	p.C670Y	SLC44A2_ENST00000586078.1_Missense_Mutation_p.C670Y|SLC44A2_ENST00000407327.4_Missense_Mutation_p.C668Y			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	670					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTGTTCCTCTGCTTCTGTGAG	0.567																																																	0								ENSG00000129353						278	185	217					19																	10753122		2203	4300	6503	SLC44A2	SO:0001583	missense	0			-	HGNC	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2009G>A	19.37:g.10753122G>A	ENSP00000336888:p.Cys670Tyr	Somatic	0	60	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP							pfam_Choline_transptr-like	p.C670Y	ENST00000335757.5	37	c.2009	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847993	0.91277	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.37058	1.22;1.22	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	D	0.84290	0.0499	10	0.87932	D	0	-14.7321	18.5195	0.90947	0.0:0.0:1.0:0.0	.	670;670;668	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	Y	668;670;670	ENSP00000385135:C668Y;ENSP00000336888:C670Y	ENSP00000336888:C670Y	C	+	2	0	SLC44A2	10614122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.300000	0.96151	2.668000	0.90789	0.655000	0.94253	TGC	-	pfam_Choline_transptr-like		0.567	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	protein_coding	OTTHUMT00000452045.1	G		-		10753122	1	no_errors	ENST00000335757	ensembl	human	known	74_37	missense	SNP	1.000	A	A	10753122	G	A	10753122	3	1	221	1	0	0	0	0	1	0	0	0	14644	1319	46	2	2126	2	SLC44A2	19	10753122	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	2559173	10753122	48375861	90	17941											
ZNF486	90649	genome.wustl.edu	37	chr19	20296806	20296806	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatgaaacaggtattattgtCtctaagccagacctgatcac	7	9	2	3			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:20296806C>G	ENST00000335117.8	+	3	225	c.168C>G	c.(166-168)gtC>gtG	p.V56V	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Silent_p.V56V|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						GTATTATTGTCTCTAAGCCAG	0.363																																																	0								ENSG00000256229						68	71	70					19																	20296806		2166	4289	6455	ZNF486	SO:0001819	synonymous_variant	0			-	HGNC	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.168C>G	19.37:g.20296806C>G		Somatic	0	93	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	Q0VG00	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V56	ENST00000335117.8	37	c.168	CCDS46029.1	19																																																																																			-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.363	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	protein_coding	OTTHUMT00000447843.2	C	NM_052852	-		20296806	1	no_errors	ENST00000335117	ensembl	human	known	74_37	silent	SNP	0.087	G	G	20296806	C	G	20296806	2	3	221	1	0	0	0	0	0	0	0	1	17946	900	32	4		4	ZNF486	19	20296806	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	9543684	20296806	38832177	91	17942			1	98		3	2	26	N	C	8.479221e-05
ZNF486	90649	genome.wustl.edu	37	chr19	20296824	20296824	+	Silent	SNP	C	C	T													gtctctaagccagacctgatCacctgtctggagcaaggaat							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:20296824C>T	ENST00000335117.8	+	3	243	c.186C>T	c.(184-186)atC>atT	p.I62I	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Silent_p.I62I|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						CAGACCTGATCACCTGTCTGG	0.378																																																	0								ENSG00000256229						77	81	80					19																	20296824		2172	4293	6465	ZNF486	SO:0001819	synonymous_variant	0			-	HGNC	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.186C>T	19.37:g.20296824C>T		Somatic	0	85	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	Q0VG00	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I62	ENST00000335117.8	37	c.186	CCDS46029.1	19																																																																																			-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.378	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	protein_coding	OTTHUMT00000447843.2	C	NM_052852	-		20296824	1	no_errors	ENST00000335117	ensembl	human	known	74_37	silent	SNP	0.080	T	T	20296824	C	T	20296824	2	4	221	1	0	0	0	0	0	0	0	1	17946	816	29	2		2	ZNF486	19	20296824	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	18	20296824	38832159	92	17943	486	2	1	98		3	2	26	N	C	8.479221e-05
ZNF486	90649	genome.wustl.edu	37	chr19	20296831	20296831	+	Silent	SNP	C	C	T													agccagacctgatcacctgtCtggagcaaggaataaaacct							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:20296831C>T	ENST00000335117.8	+	3	250	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Silent_p.L65L|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						GATCACCTGTCTGGAGCAAGG	0.373																																																	0								ENSG00000256229						80	83	82					19																	20296831		2173	4293	6466	ZNF486	SO:0001819	synonymous_variant	0			-	HGNC	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.193C>T	19.37:g.20296831C>T		Somatic	0	94	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	Q0VG00	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L65	ENST00000335117.8	37	c.193	CCDS46029.1	19																																																																																			-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.373	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	protein_coding	OTTHUMT00000447843.2	C	NM_052852	-		20296831	1	no_errors	ENST00000335117	ensembl	human	known	74_37	silent	SNP	0.043	T	T	20296831	C	T	20296831	2	4	221	1	0	0	0	0	0	0	0	1	17946	912	32	2		2	ZNF486	19	20296831	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	7	20296831	38832152	93	17944	486	2	1	98		3	2	26	N	C	8.479221e-05
PAK4	10298	genome.wustl.edu	37	chr19	39663769	39663769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagccgaggccggttcgCcggtcacagcgaggcgggtg	19	12	1	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:39663769C>T	ENST00000593690.1	+	5	843	c.416C>T	c.(415-417)gCc>gTc	p.A139V	PAK4_ENST00000599386.1_Intron|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000435673.2_Missense_Mutation_p.A139V|PAK4_ENST00000358301.3_Missense_Mutation_p.A139V|PAK4_ENST00000360442.3_Missense_Mutation_p.A139V|PAK4_ENST00000321944.4_Intron	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	139	Linker.		A -> T (in dbSNP:rs35655056). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGCCGGTTCGCCGGTCACAGC	0.741																																																	0								ENSG00000130669						3	4	4					19																	39663769		1826	3605	5431	PAK4	SO:0001583	missense	0			-	HGNC	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.416C>T	19.37:g.39663769C>T	ENSP00000469413:p.Ala139Val	Somatic	0	42	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.A139V	ENST00000593690.1	37	c.416	CCDS12528.1	19	.	.	.	.	.	.	.	.	.	.	C	3.352	-0.132268	0.06753	.	.	ENSG00000130669	ENST00000358301;ENST00000435673;ENST00000360442	T;T;T	0.71934	-0.61;-0.61;-0.61	4.08	4.08	0.47627	.	0.933553	0.08904	N	0.876808	T	0.63721	0.2535	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.49597	-0.8923	10	0.27082	T	0.32	.	11.6615	0.51349	0.0:1.0:0.0:0.0	.	139	O96013	PAK4_HUMAN	V	139	ENSP00000351049:A139V;ENSP00000392753:A139V;ENSP00000353625:A139V	ENSP00000351049:A139V	A	+	2	0	PAK4	44355609	0.972000	0.33761	0.003000	0.11579	0.008000	0.06430	1.703000	0.37846	2.101000	0.63845	0.556000	0.70494	GCC	-	NULL		0.741	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	protein_coding	OTTHUMT00000463823.1	C		-		39663769	1	no_errors	ENST00000358301	ensembl	human	known	74_37	missense	SNP	0.004	T	T	39663769	C	T	39663769	3	4	221	1	0	0	0	0	1	0	0	0	11405	739	26	2	422	2	PAK4	19	39663769	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	19366938	39663769	19465214	94	17945											
NAPA	8775	genome.wustl.edu	37	chr19	47993012	47993012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcgtgggcctctaGcaatttctgcaagcaaatgg	10	12	2	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:47993012G>A	ENST00000263354.3	-	10	1041	c.742C>T	c.(742-744)Cta>Tta	p.L248L	NAPA_ENST00000595227.1_Silent_p.L209L|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	248					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)				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)		TGGGCCTCTAGCAATTTCTGC	0.587																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						50	45	46					19																	47993012		2203	4300	6503	NAPA	SO:0001819	synonymous_variant	0			-	HGNC	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.742C>T	19.37:g.47993012G>A		Somatic	0	24	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	A8K879|Q96IK3|Q9BVJ3	Silent	SNP							prints_NSF_attach	p.L248	ENST00000263354.3	37	c.742	CCDS12702.1	19																																																																																			-	prints_NSF_attach		0.587	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		47993012	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	silent	SNP	0.683	A	A	47993012	G	A	47993012	2	1	221	1	0	0	0	0	0	0	0	1	10163	962	34	2		2	NAPA	19	47993012	Silent	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	8329243	47993012	11135971	95	17946											
ZNF347	84671	genome.wustl.edu	37	chr19	53643945	53643946	+	Frame_Shift_Ins	INS	-	-	T													taaaggctttcccacactgaINSttacactcatatggtttctc							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:53643945_53643946insT	ENST00000334197.7	-	5	2203_2204	c.2135_2136insA	c.(2134-2136)aatfs	p.N712fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Ins_p.N713fs|ZNF347_ENST00000452676.2_Frame_Shift_Ins_p.N713fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	712					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCCACACTGATTACACTCATA	0.421																																					Melanoma(64;205 1597 17324 45721)												0								ENSG00000197937																																			ZNF347	SO:0001589	frameshift_variant	0				HGNC	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2136dupA	19.37:g.53643947_53643947dupT	ENSP00000334146:p.Asn712fs	Somatic	0	77	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Ins	INS							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N713fs	ENST00000334197.7	37	c.2139_2138	CCDS33097.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.421	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	protein_coding	OTTHUMT00000464170.1	-	NM_032584			53643946	-1	no_errors	ENST00000452676	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	T	T	53643946	-	T	53643945	7	5	221	1	0	1	1	0	0	0	0	0	17868	330	12	0	387	0	ZNF347	19	53643945	Frame_Shift_Ins	INS	-	TCGA-WK-A8XO-01A-11D-A37C-09	5650933	53643945	5485038	96	17947											
GP6	51206	genome.wustl.edu	37	chr19	55526104	55526107	+	3'UTR	DEL	CAGA	CAGA	-													ggtgccctcagacagagaggCagacagacagacagacactg					rs375520233		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr19:55526104_55526107delCAGA	ENST00000417454.1	-	0	1229_1232				GP6_ENST00000310373.3_Frame_Shift_Del_p.CL402fs|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		gacagagaggcagacagacagaca	0.593																																																	0								ENSG00000088053		,	18,301,3753		5,0,8,23,255,1745					,	0.4	0		dbSNP_132	66	31,160,7921		2,0,27,6,148,3873	yes	utr-3,codingComplex	GP6	NM_016363.4,NM_001083899.1	,	7,0,35,29,403,5618	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3545,7.834,4.1858	,	,		49,461,11674				GP6	SO:0001624	3_prime_UTR_variant	0				HGNC	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*185TCTG>-	19.37:g.55526112_55526115delCAGA		Somatic	0	42	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q9HCN7|Q9UIF2	Frame_Shift_Del	DEL							smart_Ig_sub,smart_Ig_sub2	p.P404fs	ENST00000417454.1	37	c.1209_1206	CCDS46184.1	19																																																																																			-	NULL		0.593	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	protein_coding	OTTHUMT00000357006.1	CAGA				55526107	-1	no_errors	ENST00000310373	ensembl	human	known	74_37	frame_shift_del	DEL	0.009:0.011:0.014:0.015	-	-	55526107	CAGA	-	55526104	6	5	221	0	1	1	0	1	0	0	0	0	6586	697	25	0		0	GP6	19	55526104	3'UTR	DEL	CAGA	TCGA-WK-A8XO-01A-11D-A37C-09	1882159	55526104	3602879	97	17948											
TPX2	22974	genome.wustl.edu	37	chr20	30381794	30381794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaacgtcagttacagaaGgagaagaaaataaaagaact	9	4	1	5			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr20:30381794G>T	ENST00000300403.6	+	14	2181	c.1653G>T	c.(1651-1653)aaG>aaT	p.K551N	TPX2_ENST00000340513.4_Missense_Mutation_p.K587N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	551					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGTTACAGAAGGAGAAGAAAA	0.408																																																	0								ENSG00000088325						116	116	116					20																	30381794		2203	4300	6503	TPX2	SO:0001583	missense	0			-	HGNC	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1653G>T	20.37:g.30381794G>T	ENSP00000300403:p.Lys551Asn	Somatic	0	74	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP							pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.K587N	ENST00000300403.6	37	c.1761	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355148	0.61293	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.38560	1.13	5.82	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.78801	2.425	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.60052	-0.7338	10	0.54805	T	0.06	-22.1306	8.2493	0.31708	0.3792:0.0:0.6208:0.0	.	587;551	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	551;587	ENSP00000341145:K587N	ENSP00000300403:K551N	K	+	3	2	TPX2	29845455	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.855000	0.27805	0.820000	0.34516	-0.140000	0.14226	AAG	-	NULL		0.408	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	protein_coding	OTTHUMT00000078569.2	G		-		30381794	1	no_errors	ENST00000340513	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30381794	G	T	30381794	3	4	221	1	0	0	0	0	1	0	0	0	16439	991	35	3	1699	3	TPX2	20	30381794	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09		30381794	32643726	98	17949											
SEMG1	6406	genome.wustl.edu	37	chr20	43836290	43836290	+	Frame_Shift_Del	DEL	A	A	-													aagaaggcagagaccatgatAaatcaaaaggtcattttcac							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr20:43836290delA	ENST00000372781.3	+	2	409	c.352delA	c.(352-354)aaafs	p.K118fs	SEMG1_ENST00000244069.6_Frame_Shift_Del_p.K118fs	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	118	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGACCATGATAAATCAAAAGG	0.408																																																	0								ENSG00000124233						109	96	101					20																	43836290		2203	4300	6503	SEMG1	SO:0001589	frameshift_variant	0				HGNC		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.352delA	20.37:g.43836290delA	ENSP00000361867:p.Lys118fs	Somatic	0	56	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Frame_Shift_Del	DEL							pfam_Semenogelin	p.K118fs	ENST00000372781.3	37	c.352	CCDS13345.1	20																																																																																			-	pfam_Semenogelin		0.408	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	protein_coding	OTTHUMT00000079416.3	A	NM_003007			43836290	1	no_errors	ENST00000372781	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	43836290	A	-	43836290	7	5	221	1	0	1	0	1	0	0	0	0	14052	363	13	0	358	0	SEMG1	20	43836290	Frame_Shift_Del	DEL	A	TCGA-WK-A8XO-01A-11D-A37C-09	13454496	43836290	19189230	99	17950											
TFAP2C	7022	genome.wustl.edu	37	chr20	55208622	55208622	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttactgggaggtgttctcaGaaggtacttggggcacaatt	14	6	1	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr20:55208622G>T	ENST00000201031.2	+	4	1043	c.800G>T	c.(799-801)aGa>aTa	p.R267I	TFAP2C_ENST00000544508.1_Missense_Mutation_p.R98I	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	267					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GGTGTTCTCAGAAGGTACTTG	0.463																																																	0								ENSG00000087510						61	55	57					20																	55208622		2203	4300	6503	TFAP2C	SO:0001583	missense	0			-	HGNC		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.800G>T	20.37:g.55208622G>T	ENSP00000201031:p.Arg267Ile	Somatic	0	64	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP							pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.R267I	ENST00000201031.2	37	c.800	CCDS13454.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.586690	0.96578	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.98090	-4.71;-4.71	5.93	5.93	0.95920	Transcription factor AP-2, C-terminal (2);	0.090159	0.85682	D	0.000000	D	0.99102	0.9691	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99282	1.0896	10	0.87932	D	0	-13.5462	20.3437	0.98782	0.0:0.0:1.0:0.0	.	267	Q92754	AP2C_HUMAN	I	267;98	ENSP00000201031:R267I;ENSP00000442274:R98I	ENSP00000201031:R267I	R	+	2	0	TFAP2C	54642029	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.689000	0.98673	2.815000	0.96918	0.561000	0.74099	AGA	-	pfam_TF_AP2_C,prints_TF_AP2_C		0.463	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	protein_coding	OTTHUMT00000079823.2	G	NM_003222	-		55208622	1	no_errors	ENST00000201031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55208622	G	T	55208622	3	4	221	1	0	0	0	0	1	0	0	0	15796	942	33	3	814	3	TFAP2C	20	55208622	Missense_Mutation	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	11372332	55208622	7816898	100	17951											
OGFR	11054	genome.wustl.edu	37	chr20	61441851	61441851	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatctcttctcctgcagGctgtttcctctgcgagaacc	9	14	3	1			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr20:61441851G>A	ENST00000290291.6	+	5	424	c.399G>A	c.(397-399)tgG>tgA	p.W133*	OGFR_ENST00000370461.1_Splice_Site_p.W81*	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	133					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TCTCCTGCAGGCTGTTTCCTC	0.617																																																	0								ENSG00000060491						93	93	93					20																	61441851		2203	4300	6503	OGFR	SO:0001630	splice_region_variant	0			-	HGNC	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.399-1G>A	20.37:g.61441851G>A		Somatic	1	100	0.99		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Nonsense_Mutation	SNP							pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.W133*	ENST00000290291.6	37	c.399	CCDS13504.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.322565	0.95708	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370461;ENST00000450048	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5964	0.88013	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;81;74	.	.	W	+	3	0	OGFR	60912296	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	8.965000	0.93393	2.251000	0.74343	0.561000	0.74099	TGG	-	pfam_OGF_rcpt		0.617	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	protein_coding	OTTHUMT00000080067.1	G		-	Nonsense_Mutation	61441851	1	no_errors	ENST00000290291	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	61441851	G	A	61441851	5	1	221	1	0	0	0	0	0	0	1	0	10845	1217	42	2	417	2	OGFR	20	61441851	Splice_Site	SNP	G	TCGA-WK-A8XO-01A-11D-A37C-09	6233229	61441851	1583669	101	17952											
GGTLC2	91227	genome.wustl.edu	37	chr22	22989254	22989254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtccgctccccggtcagCgagatcctgttcaatgatga	11	12	2	3	rs138799771		TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chr22:22989254C>T	ENST00000480559.1	+	2	207	c.207C>T	c.(205-207)agC>agT	p.S69S	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Silent_p.S69S	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	69					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CCCCGGTCAGCGAGATCCTGT	0.587																																																	0								ENSG00000100121	C		1,4405	2.1+/-5.4	0,1,2202	64	69	67		207		0	22	dbSNP_134	67	0,8592		0,0,4296	no	coding-synonymous	GGTLC2	NM_199127.2		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		69/219	22989254	1,12997	2203	4296	6499	GGTLC2	SO:0001819	synonymous_variant	0			-	HGNC	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.207C>T	22.37:g.22989254C>T		Somatic	1	260	0.38		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	178	12.68	A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP							pfam_GGT_peptidase,prints_GGT_peptidase	p.S69	ENST00000480559.1	37	c.207	CCDS13802.2	22																																																																																			-	pfam_GGT_peptidase,prints_GGT_peptidase		0.587	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	GGTLC2	protein_coding	OTTHUMT00000321662.1	C	NM_199127	rs138799771		22989254	1	no_errors	ENST00000448514	ensembl	human	known	74_37	silent	SNP	0.996	T	T	22989254	C	T	22989254	2	4	221	1	0	0	0	0	0	0	0	1	6368	767	27	1		1	GGTLC2	22	22989254	Silent	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09		22989254	28315312	102	17953											
AKAP4	8852	genome.wustl.edu	37	chrX	49963378	49963378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacacacccctgtggctgCgtaaccagtcaatatcatca	7	14	3	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chrX:49963378C>T	ENST00000376056.2	-	2	176	c.26G>A	c.(25-27)cGc>cAc	p.R9H	AKAP4_ENST00000376064.3_Missense_Mutation_p.R9H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R9H|AKAP4_ENST00000358526.2_Missense_Mutation_p.R18H					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTGTGGCTGCGTAACCAGTC	0.428																																																	0								ENSG00000147081						88	68	75					X																	49963378		2203	4300	6503	AKAP4	SO:0001583	missense	0			-	HGNC	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.26G>A	X.37:g.49963378C>T	ENSP00000365224:p.Arg9His	Somatic	0	67	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Missense_Mutation	SNP							pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.R18H	ENST00000376056.2	37	c.53	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	1.313	-0.601510	0.03744	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.17	3.92	0.45320	.	0.113336	0.39146	N	0.001445	T	0.05640	0.0148	N	0.00116	-2.08	0.23016	N	0.998423	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34104	-0.9842	9	.	.	.	-8.4427	6.9576	0.24580	0.0:0.1075:0.0:0.8925	.	18;9	Q5JQC9;A6ND82	AKAP4_HUMAN;.	H	9;9;18;9;9;9	ENSP00000365224:R9H;ENSP00000365226:R9H;ENSP00000351327:R18H;ENSP00000365232:R9H;ENSP00000402403:R9H;ENSP00000412279:R9H	.	R	-	2	0	AKAP4	49850118	0.990000	0.36364	0.989000	0.46669	0.586000	0.36452	1.751000	0.38339	0.636000	0.30508	-0.354000	0.07668	CGC	-	smart_AKAP_110		0.428	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	protein_coding	OTTHUMT00000056552.1	C	NM_003886	-		49963378	-1	no_errors	ENST00000358526	ensembl	human	known	74_37	missense	SNP	0.989	T	T	49963378	C	T	49963378	3	4	221	1	0	0	0	0	1	0	0	0	453	768	27	1	2531	1	AKAP4	23	49963378	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09		49963378	105307182	103	17954											
OPHN1	4983	genome.wustl.edu	37	chrX	67283813	67283813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttggggtgatcttggtccCtccatcctgcagcctagaca	10	13	1	2			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chrX:67283813C>A	ENST00000355520.5	-	21	2682	c.2041G>T	c.(2041-2043)Ggg>Tgg	p.G681W	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	681	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATCTTGGTCCCTCCATCCTGC	0.607																																																	0								ENSG00000079482						79	61	67					X																	67283813		2203	4300	6503	OPHN1	SO:0001583	missense	0			-	HGNC	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2041G>T	X.37:g.67283813C>A	ENSP00000347710:p.Gly681Trp	Somatic	0	110	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G681W	ENST00000355520.5	37	c.2041	CCDS14388.1	X	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828782	0.50845	.	.	ENSG00000079482	ENST00000355520	T	0.50001	0.76	4.9	4.02	0.46733	.	0.185819	0.37437	N	0.002083	T	0.34687	0.0906	N	0.14661	0.345	0.80722	D	1	D	0.54047	0.964	P	0.46685	0.524	T	0.24048	-1.0171	10	0.72032	D	0.01	.	9.9236	0.41478	0.0:0.7987:0.2013:0.0	.	681	O60890	OPHN1_HUMAN	W	681	ENSP00000347710:G681W	ENSP00000347710:G681W	G	-	1	0	OPHN1	67200538	1.000000	0.71417	0.979000	0.43373	0.631000	0.37964	2.576000	0.46033	1.037000	0.40024	0.506000	0.49869	GGG	-	NULL		0.607	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	protein_coding	OTTHUMT00000057011.1	C	NM_002547	-		67283813	-1	no_errors	ENST00000355520	ensembl	human	known	74_37	missense	SNP	0.990	A	A	67283813	C	A	67283813	3	1	221	1	0	0	0	0	1	0	0	0	10877	681	24	3	383	3	OPHN1	23	67283813	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	17320435	67283813	87986747	104	17955											
COL4A6	1288	genome.wustl.edu	37	chrX	107417804	107417804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgcctgggaggccaggagCtccaggtaggcctggtggtc	17	10	0	0			TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chrX:107417804C>A	ENST00000372216.4	-	31	3107	c.3007G>T	c.(3007-3009)Gct>Tct	p.A1003S	COL4A6_ENST00000545689.1_Missense_Mutation_p.A1002S|COL4A6_ENST00000334504.7_Missense_Mutation_p.A1002S|COL4A6_ENST00000538570.1_Missense_Mutation_p.A1002S|COL4A6_ENST00000394872.2_Missense_Mutation_p.A1003S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1003	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGCCAGGAGCTCCAGGTAGG	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0								ENSG00000197565						30	32	31					X																	107417804		2203	4300	6503	COL4A6	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3007G>T	X.37:g.107417804C>A	ENSP00000361290:p.Ala1003Ser	Somatic	0	148	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.A1003S	ENST00000372216.4	37	c.3007	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	4.227	0.041020	0.08196	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.03	-0.63	0.11530	.	0.945621	0.08713	N	0.904678	D	0.84866	0.5567	N	0.16201	0.385	0.09310	N	1	P;D;P;P	0.58970	0.842;0.984;0.883;0.594	B;P;P;P	0.51487	0.39;0.671;0.625;0.458	T	0.74922	-0.3499	10	0.07990	T	0.79	.	6.264	0.20915	0.0:0.1697:0.2685:0.5618	.	1002;1002;1003;1002	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	1003;1002;1003;1002;1002;1002	ENSP00000361290:A1003S;ENSP00000334733:A1002S;ENSP00000378340:A1003S;ENSP00000443707:A1002S;ENSP00000445236:A1002S	ENSP00000334733:A1002S	A	-	1	0	COL4A6	107304460	0.003000	0.15002	0.115000	0.21578	0.175000	0.22909	-0.325000	0.07976	-0.156000	0.11079	-0.199000	0.12753	GCT	-	pfam_Collagen		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	protein_coding	OTTHUMT00000057875.2	C		-		107417804	-1	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	SNP	0.010	A	A	107417804	C	A	107417804	3	1	221	1	0	0	0	0	1	0	0	0	3697	797	28	3	2128	3	COL4A6	23	107417804	Missense_Mutation	SNP	C	TCGA-WK-A8XO-01A-11D-A37C-09	40133991	107417804	47852756	105	17956											
HMGB3	3149	genome.wustl.edu	37	chrX	150156358	150156360	+	In_Frame_Del	DEL	GAG	GAG	-													aagaagaggaggaggaagaaGaggaggaggaggaggaggag							TCGA-WK-A8XO-01A-11D-A37C-09	TCGA-WK-A8XO-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66179bb1-3f19-4b27-aaba-d59e3bbac62c	234d02ef-7286-46bc-b74a-744de27b69d8	g.chrX:150156358_150156360delGAG	ENST00000325307.7	+	5	670_672	c.574_576delGAG	c.(574-576)gagdel	p.E198del	HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaagaagaggaggaggagg	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000029993																																			HMGB3	SO:0001651	inframe_deletion	0				HGNC	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.574_576delGAG	X.37:g.150156367_150156369delGAG	ENSP00000359393:p.Glu198del	Somatic	0	46	0		0.439132681707769				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	O95556|Q6NS40	In_Frame_Del	DEL							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E195in_frame_del	ENST00000325307.7	37	c.574_576	CCDS35428.1	X																																																																																			-	NULL		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	protein_coding	OTTHUMT00000060867.1	GAG	NM_005342			150156360	1	no_errors	ENST00000325307	ensembl	human	known	74_37	in_frame_del	DEL	0.987:0.994:0.985	-	-	150156360	GAG	-	150156358	7	5	221	1	0	1	0	1	0	0	0	0	7229	943	33	0	588	0	HMGB3	23	150156358	In_Frame_Del	DEL	GAG	TCGA-WK-A8XO-01A-11D-A37C-09	42738554	150156358	5114202	106	17957											
AHDC1	27245	genome.wustl.edu	37	chr1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-													gttctcgggcgagggctggaAggaggaggaggaggaggagg							TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																																	0								ENSG00000126705																																			AHDC1	SO:0001651	inframe_deletion	0				HGNC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del	Somatic	0	38	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL							NULL	p.S1091in_frame_del	ENST00000247087.5	37	c.3274_3272	CCDS30652.1	1																																																																																			-	NULL		0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	protein_coding	OTTHUMT00000009523.3	AGG				27875355	-1	no_errors	ENST00000247087	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	27875355	AGG	-	27875353	7	5	222	1	0	1	0	1	0	0	0	0	412	72	3	0	1541	0	AHDC1	1	27875353	In_Frame_Del	DEL	AGG	TCGA-WK-A8XQ-01A-11D-A37C-09		27875353	221375268	1	17958											
MAP7D1	55700	genome.wustl.edu	37	chr1	36636667	36636667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagccctggtccccgacactCccccggacacccctcctgcc	7	24	0	0			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr1:36636667C>G	ENST00000373151.2	+	2	358	c.142C>G	c.(142-144)Ccc>Gcc	p.P48A	MAP7D1_ENST00000373150.4_Missense_Mutation_p.P48A|MAP7D1_ENST00000316156.4_Missense_Mutation_p.P48A	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	48	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCCGACACTCCCCCGGACAC	0.652																																																	0								ENSG00000116871						46	51	50					1																	36636667		2203	4300	6503	MAP7D1	SO:0001583	missense	0			-	HGNC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.142C>G	1.37:g.36636667C>G	ENSP00000362244:p.Pro48Ala	Somatic	0	78	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	63	51.54	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP							pfam_MAP7	p.P48A	ENST00000373151.2	37	c.142	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902286	0.72754	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	4.74	4.74	0.60224	.	0.000000	0.41500	D	0.000866	T	0.14830	0.0358	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.993	D;D;D	0.83275	0.996;0.996;0.971	T	0.00468	-1.1721	10	0.49607	T	0.09	-18.004	14.9178	0.70812	0.0:1.0:0.0:0.0	.	48;48;48	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	A	9;48;48;48;9	ENSP00000390091:P9A;ENSP00000320228:P48A;ENSP00000362243:P48A;ENSP00000362244:P48A;ENSP00000435126:P9A	ENSP00000320228:P48A	P	+	1	0	MAP7D1	36409254	0.246000	0.23909	1.000000	0.80357	0.938000	0.57974	1.368000	0.34216	2.631000	0.89168	0.462000	0.41574	CCC	-	NULL		0.652	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	protein_coding	OTTHUMT00000382095.1	C	NM_018067	-		36636667	1	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	SNP	1.000	G	G	36636667	C	G	36636667	3	3	222	1	0	0	0	0	1	0	0	0	9269	855	30	4	148	4	MAP7D1	1	36636667	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	8761314	36636667	212613954	2	17959											
MACF1	23499	genome.wustl.edu	37	chr1	39835666	39835717	+	Splice_Site	DEL	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	-													tcaagttgactttataaaacTtagtctggcaagtaacaaaa					rs201988306|rs145935087|rs201455314|rs193920778		TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr1:39835666_39835717delTTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	ENST00000372915.3	+	50	13040_13056	c.12953_12969delTTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	c.(12952-12969)attagtctggcaagtaac>a	p.ISLASN4318fs	MACF1_ENST00000317713.7_Splice_Site_p.ISLASN2251fs|MACF1_ENST00000564288.1_Splice_Site_p.ISLASN4313fs|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Splice_Site_p.ISLASN2251fs|MACF1_ENST00000545844.1_Splice_Site_p.ISLASN2251fs|MACF1_ENST00000361689.2_Splice_Site_p.ISLASN2251fs|MACF1_ENST00000289893.4_Splice_Site_p.ISLASN2753fs|MACF1_ENST00000567887.1_Splice_Site_p.ISLASN4350fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4318					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTATAAAACTTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCATCTTGCCAGG	0.409																																																	0								ENSG00000127603																																			MACF1	SO:0001630	splice_region_variant	0				HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12954-1TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA>-	1.37:g.39835666_39835717delTTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA		Somatic					0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R2274fs	ENST00000372915.3	37	c.6789_6768		1																																																																																			-	smart_Spectrin/alpha-actinin		0.409	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	NM_033044		Frame_Shift_Del	39835717	1	no_errors	ENST00000317713	ensembl	human	known	74_37	frame_shift_del	DEL	0.055:0.031:0.000:0.000:0.013:0.023:0.020:0.004:0.004:0.005:0.013:0.021:0.028:0.810:0.820:0.813:0.686:0.438:0.151:0.046:0.011:0.000:0.002:0.082:0.260:0.176:0.100:0.003:0.002:0.113:0.958:0.968:0.980:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.983:0.998:0.998:0.986	-	-	39835717	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	-	39835666	8	5	222	1	0	1	0	1	0	0	1	0	9146	1624	56	0		0	MACF1	1	39835666	Splice_Site	DEL	TTAGTCTGGCAAGTAACAAAACTGCTTCATTGACAGAGAGAAAGATGCATCA	TCGA-WK-A8XQ-01A-11D-A37C-09	3198999	39835666	209414955	3	17960											
OTX1	5013	genome.wustl.edu	37	chr2	63283301	63283301	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaccaccaaggctacggTggctctgggcttgccttcaa	10	15	2	0			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr2:63283301T>A	ENST00000282549.2	+	5	1191	c.915T>A	c.(913-915)ggT>ggA	p.G305G	OTX1_ENST00000366671.3_Silent_p.G305G	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	305					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					aAGGCTACGGTGGCTCTGGGC	0.627																																																	0								ENSG00000115507						93	71	79					2																	63283301		2203	4300	6503	OTX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.915T>A	2.37:g.63283301T>A		Somatic	0	41	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	33	46.77	A6NHA2|B3KTJ4|Q53TG6	Silent	SNP							pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF	p.G305	ENST00000282549.2	37	c.915	CCDS1873.1	2																																																																																			-	NULL		0.627	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX1	protein_coding	OTTHUMT00000251617.1	T		-		63283301	1	no_errors	ENST00000282549	ensembl	human	known	74_37	silent	SNP	0.997	A	A	63283301	T	A	63283301	2	1	222	1	0	0	0	0	0	0	0	1	11322	1683	59	5		5	OTX1	2	63283301	Silent	SNP	T	TCGA-WK-A8XQ-01A-11D-A37C-09		63283301	179916072	4	17961											
ZNF589	51385	genome.wustl.edu	37	chr3	48309726	48309726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagctcttggggaggcaAcagaatattagagatacagc	11	6	1	2			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr3:48309726A>G	ENST00000354698.3	+	4	617	c.545A>G	c.(544-546)aAc>aGc	p.N182S	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	182					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGGGAGGCAACAGAATATTA	0.502																																					Colon(9;319 328 25374 27611 50948)												0								ENSG00000164048						51	55	54					3																	48309726		1873	4120	5993	ZNF589	SO:0001583	missense	0			-	HGNC	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.545A>G	3.37:g.48309726A>G	ENSP00000346729:p.Asn182Ser	Somatic	0	21	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP							pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N182S	ENST00000354698.3	37	c.545	CCDS43085.1	3	.	.	.	.	.	.	.	.	.	.	A	6.947	0.544587	0.13312	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.05996	3.36	1.32	-1.25	0.09405	.	.	.	.	.	T	0.04815	0.0130	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.23854	0.092;0.055	B;B	0.11329	0.006;0.003	T	0.38200	-0.9672	9	0.42905	T	0.14	.	5.1691	0.15101	0.6428:0.0:0.3572:0.0	.	179;182	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	S	182;179	ENSP00000346729:N182S	ENSP00000296437:N179S	N	+	2	0	ZNF589	48284730	.	.	0.002000	0.10522	0.544000	0.35116	.	.	-0.384000	0.07845	0.383000	0.25322	AAC	-	NULL		0.502	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF589	protein_coding	OTTHUMT00000346124.1	A	NM_016089	-		48309726	1	no_errors	ENST00000354698	ensembl	human	known	74_37	missense	SNP	0.048	G	G	48309726	A	G	48309726	3	3	222	1	0	0	0	0	1	0	0	0	18028	43	2	5	559	5	ZNF589	3	48309726	Missense_Mutation	SNP	A	TCGA-WK-A8XQ-01A-11D-A37C-09		48309726	149712704	5	17962											
TMPRSS11D	9407	genome.wustl.edu	37	chr4	68708322	68708322	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactgatttcttaaatttgAttctttgaatgttttagtaa	6	3	2	3			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr4:68708322A>T	ENST00000283916.6	-	4	369	c.271T>A	c.(271-273)Tca>Aca	p.S91T	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	91	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTTAAATTTGATTCTTTGAAT	0.358																																																	0								ENSG00000153802						79	82	81					4																	68708322		2203	4299	6502	TMPRSS11D	SO:0001583	missense	0			-	HGNC	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.271T>A	4.37:g.68708322A>T	ENSP00000283916:p.Ser91Thr	Somatic	0	18	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	Q08AF6	Missense_Mutation	SNP							pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1	p.S91T	ENST00000283916.6	37	c.271	CCDS3518.1	4	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266363	0.59540	.	.	ENSG00000153802	ENST00000283916	T	0.55052	0.54	5.19	5.19	0.71726	SEA (3);	0.000000	0.48767	D	0.000179	T	0.73674	0.3617	M	0.86420	2.815	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.75752	-0.3207	10	0.39692	T	0.17	.	11.7214	0.51685	1.0:0.0:0.0:0.0	.	91	O60235	TM11D_HUMAN	T	91	ENSP00000283916:S91T	ENSP00000283916:S91T	S	-	1	0	TMPRSS11D	68390917	0.998000	0.40836	0.536000	0.28039	0.654000	0.38779	4.243000	0.58721	2.067000	0.61834	0.533000	0.62120	TCA	-	pirsf_Pept_S1A_HAT/DESC1,pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom		0.358	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11D	protein_coding	OTTHUMT00000251430.3	A	NM_004262	-		68708322	-1	no_errors	ENST00000283916	ensembl	human	known	74_37	missense	SNP	0.757	T	T	68708322	A	T	68708322	3	4	222	1	0	0	0	0	1	0	0	0	16248	333	12	5	1013	5	TMPRSS11D	4	68708322	Missense_Mutation	SNP	A	TCGA-WK-A8XQ-01A-11D-A37C-09		68708322	122445954	6	17963											
UGT2B11	10720	genome.wustl.edu	37	chr4	70079967	70079967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaagtagcgcagccagcagCtcaccacagggaaaaacagc	10	12	1	0			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr4:70079967C>A	ENST00000446444.1	-	1	482	c.474G>T	c.(472-474)gaG>gaT	p.E158D	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	158					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGCCAGCAGCTCACCACAGG	0.413																																																	0								ENSG00000213759						132	128	130					4																	70079967		2203	4298	6501	UGT2B11	SO:0001583	missense	0			-	HGNC	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.474G>T	4.37:g.70079967C>A	ENSP00000387683:p.Glu158Asp	Somatic	0	94	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	72	45.04	Q3KNV9	Missense_Mutation	SNP							pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E158D	ENST00000446444.1	37	c.474	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	0.568	-0.842466	0.02671	.	.	ENSG00000213759	ENST00000446444	T	0.60920	0.15	1.96	1.96	0.26148	.	0.081913	0.47852	U	0.000201	T	0.42381	0.1200	L	0.38692	1.165	0.20638	N	0.999873	B	0.16802	0.019	B	0.20384	0.029	T	0.21895	-1.0232	10	0.20519	T	0.43	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	158	O75310	UDB11_HUMAN	D	158	ENSP00000387683:E158D	ENSP00000387683:E158D	E	-	3	2	UGT2B11	70114556	0.211000	0.23529	0.976000	0.42696	0.037000	0.13140	-0.666000	0.05280	1.087000	0.41251	0.184000	0.17185	GAG	-	pfam_UDP_glucos_trans		0.413	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	protein_coding	OTTHUMT00000251551.2	C	NM_001073	-		70079967	-1	no_errors	ENST00000446444	ensembl	human	known	74_37	missense	SNP	1.000	A	A	70079967	C	A	70079967	3	1	222	1	0	0	0	0	1	0	0	0	16964	796	28	3	1139	3	UGT2B11	4	70079967	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	1371645	70079967	121074309	7	17964											
GPR98	84059	genome.wustl.edu	37	chr5	90106396	90106396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggattacaaaagtttgatGttaattggagcccacgcctg	12	7	0	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr5:90106396G>A	ENST00000405460.2	+	74	15415	c.15319G>A	c.(15319-15321)Gtt>Att	p.V5107I	GPR98_ENST00000425867.2_Missense_Mutation_p.V768I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5107					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)			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)		AAAGTTTGATGTTAATTGGAG	0.348																																																	0								ENSG00000164199						120	120	120					5																	90106396		1839	4086	5925	GPR98	SO:0001583	missense	0			-	HGNC	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.15319G>A	5.37:g.90106396G>A	ENSP00000384582:p.Val5107Ile	Somatic	0	18	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V5107I	ENST00000405460.2	37	c.15319	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	0.201	-1.044848	0.01997	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35789	1.29;1.29	5.37	2.4	0.29515	.	0.730922	0.14273	N	0.330033	T	0.20414	0.0491	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16396	0.01;0.006;0.017	B;B;B	0.18561	0.01;0.006;0.022	T	0.19484	-1.0304	9	.	.	.	.	4.9037	0.13788	0.0763:0.1577:0.5426:0.2234	.	768;5107;768	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5107;5107;768	ENSP00000384582:V5107I;ENSP00000392618:V768I	.	V	+	1	0	GPR98	90142152	0.984000	0.35163	0.005000	0.12908	0.133000	0.20885	2.188000	0.42612	0.743000	0.32719	-0.311000	0.09066	GTT	-	NULL		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		90106396	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	0.007	A	A	90106396	G	A	90106396	3	1	222	1	0	0	0	0	1	0	0	0	6723	1377	48	2	15613	2	GPR98	5	90106396	Missense_Mutation	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09		90106396	90808864	8	17965											
PRKAR1B	5575	genome.wustl.edu	37	chr7	647042	647042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtaccttgctgtataacaGtctccccagcgatgtgagtg	10	11	1	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr7:647042G>T	ENST00000406797.1	-	5	662	c.488C>A	c.(487-489)aCt>aAt	p.T163N	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.T163N|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.T163N|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.T163N|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.T163N	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	163					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGTATAACAGTCTCCCCAGC	0.473																																																	0								ENSG00000188191						125	105	112					7																	647042		2203	4296	6499	PRKAR1B	SO:0001583	missense	0			-	HGNC	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.488C>A	7.37:g.647042G>T	ENSP00000385749:p.Thr163Asn	Somatic	0	27	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q8N422	Missense_Mutation	SNP							pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.T163N	ENST00000406797.1	37	c.488	CCDS34579.1	7	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897666	0.17686	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-1.94	3.66	2.77	0.32553	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.115116	0.64402	U	0.000019	D	0.85915	0.5808	N	0.25245	0.725	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.78135	-0.2322	10	0.23302	T	0.38	-27.1612	10.4063	0.44258	0.1008:0.0:0.8992:0.0	.	163	P31321	KAP1_HUMAN	N	163;163;163;163;163;163;108;163	ENSP00000440449:T163N;ENSP00000444487:T163N;ENSP00000385749:T163N;ENSP00000385349:T163N;ENSP00000353415:T163N;ENSP00000402648:T163N;ENSP00000394633:T108N;ENSP00000406670:T163N	ENSP00000353415:T163N	T	-	2	0	PRKAR1B	613568	1.000000	0.71417	0.717000	0.30585	0.634000	0.38068	3.526000	0.53509	0.868000	0.35678	0.478000	0.44815	ACT	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin		0.473	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	protein_coding	OTTHUMT00000322525.1	G		-		647042	-1	no_errors	ENST00000360274	ensembl	human	known	74_37	missense	SNP	0.919	T	T	647042	G	T	647042	3	4	222	1	0	0	0	0	1	0	0	0	12509	1029	36	3	685	3	PRKAR1B	7	647042	Missense_Mutation	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09		647042	158491621	9	17966											
YWHAG	7532	genome.wustl.edu	37	chr7	75958930	75958930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccatcgtcgtcctgctgGtcgctcgtccagagcgtgag	13	15	0	2			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr7:75958930G>A	ENST00000307630.3	-	2	930	c.708C>T	c.(706-708)gaC>gaT	p.D236D		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	236					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CGTCCTGCTGGTCGCTCGTCC	0.582																																																	0								ENSG00000170027						71	56	61					7																	75958930		2203	4300	6503	YWHAG	SO:0001819	synonymous_variant	0			-	HGNC	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.708C>T	7.37:g.75958930G>A		Somatic	0	29	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	24	52.00	O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Silent	SNP							pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.D236	ENST00000307630.3	37	c.708	CCDS5584.1	7																																																																																			-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.582	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAG	protein_coding	OTTHUMT00000253002.1	G	NM_012479	-		75958930	-1	no_errors	ENST00000307630	ensembl	human	known	74_37	silent	SNP	0.728	A	A	75958930	G	A	75958930	2	1	222	1	0	0	0	0	0	0	0	1	17510	1252	44	2		2	YWHAG	7	75958930	Silent	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09	75311888	75958930	83179733	10	17967											
DGKI	9162	genome.wustl.edu	37	chr7	137257551	137257551	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatacactggaacttcagttCctgaatctttggggtgagat	10	7	2	2			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr7:137257551C>A	ENST00000288490.5	-	18	1795	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.E599*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.E299*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.E599*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	599					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AACTTCAGTTCCTGAATCTTT	0.373																																																	0								ENSG00000157680						110	114	113					7																	137257551		2203	4300	6503	DGKI	SO:0001587	stop_gained	0			-	HGNC	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1795G>T	7.37:g.137257551C>A	ENSP00000288490:p.Glu599*	Somatic	0	28	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E599*	ENST00000288490.5	37	c.1795	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	43	9.959362	0.99304	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.45	5.45	0.79879	.	0.049193	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.8994	0.92435	0.0:1.0:0.0:0.0	.	.	.	.	X	299;547;599;599;599	.	ENSP00000288490:E599X	E	-	1	0	DGKI	136908091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.567000	0.86603	0.563000	0.77884	GAA	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.373	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	protein_coding	OTTHUMT00000341286.3	C	NM_004717	-		137257551	-1	no_errors	ENST00000288490	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	137257551	C	A	137257551	4	1	222	1	0	0	0	0	0	1	0	0	4473	864	30	3	1470	3	DGKI	7	137257551	Nonsense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	61298621	137257551	21881112	11	17968											
TNC	3371	genome.wustl.edu	37	chr9	117853062	117853062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcgctgggctctgaaggcGgtgccaggtctttctcccca	12	13	3	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr9:117853062G>T	ENST00000350763.4	-	2	647	c.236C>A	c.(235-237)cCg>cAg	p.P79Q	TNC_ENST00000423613.2_Missense_Mutation_p.P79Q|TNC_ENST00000340094.3_Missense_Mutation_p.P79Q|TNC_ENST00000346706.3_Missense_Mutation_p.P79Q|TNC_ENST00000345230.3_Missense_Mutation_p.P79Q|TNC_ENST00000537320.1_Missense_Mutation_p.P79Q|TNC_ENST00000535648.1_Missense_Mutation_p.P79Q|TNC_ENST00000542877.1_Missense_Mutation_p.P79Q|TNC_ENST00000341037.4_Missense_Mutation_p.P79Q	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	79					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						CTCTGAAGGCGGTGCCAGGTC	0.567																																																	0								ENSG00000041982						163	156	158					9																	117853062		2203	4300	6503	TNC	SO:0001583	missense	0			-	HGNC		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.236C>A	9.37:g.117853062G>T	ENSP00000265131:p.Pro79Gln	Somatic	0	35	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P79Q	ENST00000350763.4	37	c.236	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222666	0.22457	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877;ENST00000534839	T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.94	4.13	0.48395	.	0.466873	0.25285	N	0.031773	T	0.30479	0.0766	L	0.42245	1.32	0.09310	N	1	B;B	0.18863	0.031;0.01	B;B	0.20767	0.031;0.008	T	0.27331	-1.0077	10	0.66056	D	0.02	.	9.229	0.37425	0.2182:0.0:0.7818:0.0	.	79;79	E9PC84;P24821	.;TENA_HUMAN	Q	79	ENSP00000344400:P79Q;ENSP00000438152:P79Q;ENSP00000344555:P79Q;ENSP00000345861:P79Q;ENSP00000265131:P79Q;ENSP00000339553:P79Q;ENSP00000411406:P79Q;ENSP00000443478:P79Q;ENSP00000442242:P79Q;ENSP00000443469:P79Q	ENSP00000344400:P79Q	P	-	2	0	TNC	116892883	0.957000	0.32711	0.003000	0.11579	0.039000	0.13416	4.976000	0.63785	0.853000	0.35312	-0.137000	0.14449	CCG	-	NULL		0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	G	NM_002160	-		117853062	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	SNP	0.035	T	T	117853062	G	T	117853062	3	4	222	1	0	0	0	0	1	0	0	0	16277	1116	39	3	6477	3	TNC	9	117853062	Missense_Mutation	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09		117853062	23360369	12	17969											
SETX	23064	genome.wustl.edu	37	chr9	135202975	135202975	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagaagtttcttattatttCtgacagacaggttctgagga	9	6	4	4			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr9:135202975C>A	ENST00000224140.5	-	10	4192	c.4010G>T	c.(4009-4011)aGa>aTa	p.R1337I	SETX_ENST00000393220.1_Missense_Mutation_p.R1337I|SETX_ENST00000372169.2_Missense_Mutation_p.R1337I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1337					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTATTATTTCTGACAGACAG	0.358																																																	0								ENSG00000107290						65	66	66					9																	135202975		2202	4300	6502	SETX	SO:0001583	missense	0			-	HGNC	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4010G>T	9.37:g.135202975C>A	ENSP00000224140:p.Arg1337Ile	Somatic	0	29	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	45	45.78	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.R1337I	ENST00000224140.5	37	c.4010	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506249	0.26949	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87334	-2.15;-2.24;-1.85	5.46	-6.75	0.01738	.	1.015060	0.07854	N	0.965186	D	0.82765	0.5108	L	0.36672	1.1	0.39908	D	0.973981	P;P;D	0.53151	0.911;0.877;0.958	P;B;P	0.44990	0.466;0.276;0.466	T	0.80674	-0.1277	10	0.87932	D	0	.	16.9966	0.86369	0.0:0.1018:0.0:0.8982	.	1337;1337;1337	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	1337	ENSP00000224140:R1337I;ENSP00000361242:R1337I;ENSP00000376913:R1337I	ENSP00000224140:R1337I	R	-	2	0	SETX	134192796	0.296000	0.24398	0.145000	0.22337	0.048000	0.14542	-0.435000	0.06931	-1.509000	0.01798	-0.312000	0.09012	AGA	-	NULL		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	protein_coding	OTTHUMT00000054774.3	C	NM_015046	-		135202975	-1	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	SNP	0.923	A	A	135202975	C	A	135202975	3	1	222	1	0	0	0	0	1	0	0	0	14149	913	32	3	4091	3	SETX	9	135202975	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	17349913	135202975	6010456	13	17970											
DNAJC1	64215	genome.wustl.edu	37	chr10	22048139	22048139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggctattttgtcccagCggtcagaggatccccttggg	12	11	2	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr10:22048139C>T	ENST00000376980.3	-	11	1846	c.1556G>A	c.(1555-1557)cGc>cAc	p.R519H	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	519	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TTTGTCCCAGCGGTCAGAGGA	0.542																																																	0								ENSG00000136770						129	130	130					10																	22048139		2203	4300	6503	DNAJC1	SO:0001583	missense	0			-	HGNC	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1556G>A	10.37:g.22048139C>T	ENSP00000366179:p.Arg519His	Somatic	0	37	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP							pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.R519H	ENST00000376980.3	37	c.1556	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257777	0.80246	.	.	ENSG00000136770	ENST00000376980	T	0.44881	0.91	5.94	5.94	0.96194	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.050907	0.85682	D	0.000000	T	0.78528	0.4297	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84896	0.0839	10	0.87932	D	0	-2.6786	20.3633	0.98874	0.0:1.0:0.0:0.0	.	240;519	Q96NY3;Q96KC8	.;DNJC1_HUMAN	H	519	ENSP00000366179:R519H	ENSP00000366179:R519H	R	-	2	0	DNAJC1	22088145	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.729000	0.84864	2.826000	0.97356	0.561000	0.74099	CGC	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.542	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	protein_coding	OTTHUMT00000047149.1	C	NM_022365	-		22048139	-1	no_errors	ENST00000376980	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22048139	C	T	22048139	3	4	222	1	0	0	0	0	1	0	0	0	4630	768	27	1	116	1	DNAJC1	10	22048139	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09		22048139	113486608	14	17971											
PPP3CB	5532	genome.wustl.edu	37	chr10	75239251	75239251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttcttcagatgtcaagCgatgtgttggggggaaaggg	15	5	3	1	rs149808527		TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr10:75239251C>T	ENST00000360663.5	-	2	221	c.110G>A	c.(109-111)cGc>cAc	p.R37H	PPP3CB_ENST00000342558.3_Missense_Mutation_p.R37H|PPP3CB_ENST00000394822.2_Missense_Mutation_p.R37H|PPP3CB_ENST00000394828.2_Missense_Mutation_p.R37H|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394829.2_Missense_Mutation_p.R37H			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	37	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AGATGTCAAGCGATGTGTTGG	0.363																																																	0								ENSG00000107758						81	78	79					10																	75239251		2203	4300	6503	PPP3CB	SO:0001583	missense	0			-	HGNC	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.110G>A	10.37:g.75239251C>T	ENSP00000353881:p.Arg37His	Somatic	0	23	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	12.90	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP							pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.R37H	ENST00000360663.5	37	c.110	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944900	0.53079	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000021	T	0.32436	0.0829	M	0.89715	3.055	0.80722	D	1	B;B;D;B	0.76494	0.142;0.043;0.999;0.021	B;B;D;B	0.74674	0.025;0.008;0.984;0.006	T	0.12760	-1.0535	10	0.28530	T	0.3	.	19.5736	0.95432	0.0:1.0:0.0:0.0	.	37;37;37;37	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	H	37	ENSP00000353881:R37H;ENSP00000378306:R37H;ENSP00000378305:R37H;ENSP00000343147:R37H;ENSP00000378299:R37H	ENSP00000343147:R37H	R	-	2	0	PPP3CB	74909257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.837000	0.62796	2.636000	0.89361	0.655000	0.94253	CGC	-	NULL		0.363	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	protein_coding	OTTHUMT00000048669.1	C	NM_021132	-		75239251	-1	no_errors	ENST00000394829	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75239251	C	T	75239251	3	4	222	1	0	0	0	0	1	0	0	0	12403	768	27	1	1519	1	PPP3CB	10	75239251	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	53191112	75239251	60295496	15	17972											
ADK	132	genome.wustl.edu	37	chr10	76154044	76154044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagccaacaggaacttGtgctgcatgcatcactggtg	12	10	1	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr10:76154044G>T	ENST00000286621.2	+	5	469	c.419G>T	c.(418-420)tGt>tTt	p.C140F	ADK_ENST00000539909.1_Missense_Mutation_p.C140F|ADK_ENST00000541550.1_Missense_Mutation_p.C105F|ADK_ENST00000372734.3_Missense_Mutation_p.C123F	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	140					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	ACAGGAACTTGTGCTGCATGC	0.423																																																	0								ENSG00000156110						84	81	82					10																	76154044		2203	4300	6503	ADK	SO:0001583	missense	0			-	HGNC	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.419G>T	10.37:g.76154044G>T	ENSP00000286621:p.Cys140Phe	Somatic	0	34	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP							pfam_PfkB_dom,prints_Adenokinase	p.C140F	ENST00000286621.2	37	c.419	CCDS7343.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511667	0.85389	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.68	5.68	0.88126	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	H	0.95504	3.68	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	0.93948	0.7229	10	0.87932	D	0	-10.4479	19.7958	0.96481	0.0:0.0:1.0:0.0	.	105;140;123;140	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	F	140;140;123;105	ENSP00000443965:C140F;ENSP00000286621:C140F;ENSP00000361819:C123F;ENSP00000438321:C105F	ENSP00000286621:C140F	C	+	2	0	ADK	75824050	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.439000	0.97543	2.669000	0.90835	0.563000	0.77884	TGT	-	pfam_PfkB_dom,prints_Adenokinase		0.423	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADK	protein_coding	OTTHUMT00000048763.1	G	NM_001123, NM_006721	-		76154044	1	no_errors	ENST00000286621	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76154044	G	T	76154044	3	4	222	1	0	0	0	0	1	0	0	0	320	1377	48	3	455	3	ADK	10	76154044	Missense_Mutation	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09	914793	76154044	59380703	16	17973											
SFXN2	118980	genome.wustl.edu	37	chr10	104497506	104497506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagccttatgtctacttcaAtaagggtctctaaatgcccc	7	11	3	1	rs201424155		TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr10:104497506A>G	ENST00000369893.5	+	12	1123	c.956A>G	c.(955-957)aAt>aGt	p.N319S		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	319					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			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)		GTCTACTTCAATAAGGGTCTC	0.463													A|||	1	0.000199681	0	0	5008	,	,		21464	0		0.001	False		,,,				2504	0																0								ENSG00000156398						129	109	115					10																	104497506		2203	4300	6503	SFXN2	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.956A>G	10.37:g.104497506A>G	ENSP00000358909:p.Asn319Ser	Somatic	0	29	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	28	50.88	Q5JSM6	Missense_Mutation	SNP							pfam_Mtc,tigrfam_Mtc	p.N319S	ENST00000369893.5	37	c.956	CCDS7539.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	24.0	4.487136	0.84854	.	.	ENSG00000156398	ENST00000369893	T	0.37411	1.2	5.68	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68337	-0.5435	10	0.87932	D	0	-8.0034	10.3504	0.43931	0.9225:0.0:0.0775:0.0	.	319	Q96NB2	SFXN2_HUMAN	S	319	ENSP00000358909:N319S	ENSP00000358909:N319S	N	+	2	0	SFXN2	104487496	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.875000	0.87205	0.998000	0.38996	0.459000	0.35465	AAT	-	pfam_Mtc,tigrfam_Mtc		0.463	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	protein_coding	OTTHUMT00000050096.2	A	XM_058359	rs201424155		104497506	1	no_errors	ENST00000369893	ensembl	human	known	74_37	missense	SNP	1.000	G	G	104497506	A	G	104497506	3	3	222	1	0	0	0	0	1	0	0	0	14203	101	4	5	998	5	SFXN2	10	104497506	Missense_Mutation	SNP	A	TCGA-WK-A8XQ-01A-11D-A37C-09	28343462	104497506	31037241	17	17974											
OR5P2	120065	genome.wustl.edu	37	chr11	7817816	7817816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgcccctcagtggagCgcatcttcaggatggtgatg	15	9	3	1	rs372220227		TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr11:7817816C>T	ENST00000329434.2	-	1	704	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAGTGGAGCGCATCTTCAG	0.493													C|||	1	0.000199681	8e-04	0	5008	,	,		18924	0		0	False		,,,				2504	0																0								ENSG00000183303	C	HIS/ARG	0,4214		0,0,2107	110	112	112		674	1.6	1	11		112	1,8583		0,1,4291	no	missense	OR5P2	NM_153444.1	29	0,1,6398	TT,TC,CC		0.0116,0.0,0.0078	benign	225/323	7817816	1,12797	2107	4292	6399	OR5P2	SO:0001583	missense	0			-	HGNC	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.674G>A	11.37:g.7817816C>T	ENSP00000331823:p.Arg225His	Somatic	0	37	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	30	46.55	Q3MIS8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R225H	ENST00000329434.2	37	c.674	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	C	6.987	0.552188	0.13374	0.0	1.16E-4	ENSG00000183303	ENST00000329434	T	0.39229	1.09	5.5	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	1.249150	0.05210	N	0.506500	T	0.20901	0.0503	N	0.05124	-0.11	0.22096	N	0.999368	B	0.17852	0.024	B	0.20767	0.031	T	0.23726	-1.0180	10	0.13470	T	0.59	3.4885	4.7514	0.13063	0.0:0.5351:0.147:0.3179	.	225	Q8WZ92	OR5P2_HUMAN	H	225	ENSP00000331823:R225H	ENSP00000331823:R225H	R	-	2	0	OR5P2	7774392	0.000000	0.05858	0.994000	0.49952	0.866000	0.49608	-1.237000	0.02922	0.155000	0.19261	0.555000	0.69702	CGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	protein_coding	OTTHUMT00000385696.1	C	NM_153444	-		7817816	-1	no_errors	ENST00000329434	ensembl	human	known	74_37	missense	SNP	0.435	T	T	7817816	C	T	7817816	3	4	222	1	0	0	0	0	1	0	0	0	11180	768	27	1	298	1	OR5P2	11	7817816	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09		7817816	127188700	18	17975											
VWF	7450	genome.wustl.edu	37	chr12	6184682	6184682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcgggcaaacaccgaGgtgctcttcagaagctggca	14	11	2	1	rs527344390	byFrequency	TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr12:6184682G>A	ENST00000261405.5	-	7	947	c.693C>T	c.(691-693)acC>acT	p.T231T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	231	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.T231T(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAAACACCGAGGTGCTCTTCA	0.627																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000110799						43	42	42					12																	6184682		2203	4299	6502	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.693C>T	12.37:g.6184682G>A		Somatic	0	62	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	41	43.84	Q8TCE8|Q99806	Silent	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.T231	ENST00000261405.5	37	c.693	CCDS8539.1	12																																																																																			-	pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.627	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	G	NM_000552	-		6184682	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	0.136	A	A	6184682	G	A	6184682	2	1	222	1	0	0	0	0	0	0	0	1	17253	987	35	2		2	VWF	12	6184682	Silent	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09		6184682	127667213	19	17976											
ABCC6	368	genome.wustl.edu	37	chr16	16271462	16271462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcaggatgtggagtgCgtgcgtcacgagaatccgtg	18	8	1	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr16:16271462C>T	ENST00000205557.7	-	19	2466	c.2437G>A	c.(2437-2439)Gca>Aca	p.A813T		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	813	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	ATGTGGAGTGCGTGCGTCACG	0.577																																																	0								ENSG00000091262						112	109	110					16																	16271462		2197	4300	6497	ABCC6	SO:0001583	missense	0			-	HGNC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2437G>A	16.37:g.16271462C>T	ENSP00000205557:p.Ala813Thr	Somatic	0	44	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.A813T	ENST00000205557.7	37	c.2437	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935186	0.34189	.	.	ENSG00000091262	ENST00000205557	T	0.67865	-0.29	4.89	-2.15	0.07102	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.662303	0.13051	N	0.417724	T	0.51007	0.1649	L	0.43152	1.355	0.49213	D	0.999768	B	0.09022	0.002	B	0.06405	0.002	T	0.14364	-1.0475	10	0.39692	T	0.17	.	5.9006	0.18964	0.1222:0.4219:0.0:0.4559	.	813	O95255	MRP6_HUMAN	T	813	ENSP00000205557:A813T	ENSP00000205557:A813T	A	-	1	0	ABCC6	16178963	0.002000	0.14202	0.124000	0.21820	0.575000	0.36095	0.306000	0.19279	-0.762000	0.04664	-0.672000	0.03802	GCA	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	C		-		16271462	-1	no_errors	ENST00000205557	ensembl	human	known	74_37	missense	SNP	0.687	T	T	16271462	C	T	16271462	3	4	222	1	0	0	0	0	1	0	0	0	57	768	27	1	2126	1	ABCC6	16	16271462	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09		16271462	74083291	20	17977											
CHD9	80205	genome.wustl.edu	37	chr16	53302010	53302010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attactccaactgaagatggAcagacacgagagctacagaa	9	9	0	5			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr16:53302010A>G	ENST00000398510.3	+	21	4776	c.4689A>G	c.(4687-4689)ggA>ggG	p.G1563G	CHD9_ENST00000564845.1_Silent_p.G1563G|CHD9_ENST00000447540.1_Silent_p.G1563G|CHD9_ENST00000566029.1_Silent_p.G1563G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1563					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTGAAGATGGACAGACACGAG	0.338																																																	0								ENSG00000177200						80	73	75					16																	53302010		1859	4097	5956	CHD9	SO:0001819	synonymous_variant	0			-	HGNC	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4689A>G	16.37:g.53302010A>G		Somatic	0	20	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	8	61.90	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1563	ENST00000398510.3	37	c.4689		16																																																																																			-	NULL		0.338	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	A	NM_025134	-		53302010	1	no_errors	ENST00000398510	ensembl	human	known	74_37	silent	SNP	0.922	G	G	53302010	A	G	53302010	2	3	222	1	0	0	0	0	0	0	0	1	3334	262	10	5		5	CHD9	16	53302010	Silent	SNP	A	TCGA-WK-A8XQ-01A-11D-A37C-09	37030548	53302010	37052743	21	17978											
RPA1	6117	genome.wustl.edu	37	chr17	1782517	1782517	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcgcaggtgtattaTttctcgaaaggcaccctgaa	8	12	1	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr17:1782517T>A	ENST00000254719.5	+	10	878	c.768T>A	c.(766-768)taT>taA	p.Y256*	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	256					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AGGTGTATTATTTCTCGAAAG	0.507								Nucleotide excision repair (NER)																																									0								ENSG00000132383						67	68	67					17																	1782517		2203	4300	6503	RPA1	SO:0001587	stop_gained	0			-	HGNC	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.768T>A	17.37:g.1782517T>A	ENSP00000254719:p.Tyr256*	Somatic	0	23	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	8	74.19	A8K0Y9|Q59ES9	Nonsense_Mutation	SNP							pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.Y256*	ENST00000254719.5	37	c.768	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720587	0.68959	.	.	ENSG00000132383	ENST00000254719	.	.	.	6.08	-3.34	0.04943	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6321	15.6688	0.77255	0.0:0.5576:0.0:0.4424	.	.	.	.	X	256	.	ENSP00000254719:Y256X	Y	+	3	2	RPA1	1729267	0.987000	0.35691	0.974000	0.42286	0.157000	0.22087	0.263000	0.18478	-0.532000	0.06332	0.482000	0.46254	TAT	-	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1		0.507	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	protein_coding	OTTHUMT00000207118.2	T	NM_002945	-		1782517	1	no_errors	ENST00000254719	ensembl	human	known	74_37	nonsense	SNP	0.989	A	A	1782517	T	A	1782517	4	1	222	1	0	0	0	0	0	1	0	0	13544	1500	52	5	806	5	RPA1	17	1782517	Nonsense_Mutation	SNP	T	TCGA-WK-A8XQ-01A-11D-A37C-09		1782517	79412693	22	17979											
PSMD3	5709	genome.wustl.edu	37	chr17	38146359	38146359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcccagggcgaatcaaagCcatccagctggagtactcag	10	13	2	0			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr17:38146359C>G	ENST00000264639.4	+	6	1064	c.890C>G	c.(889-891)gCc>gGc	p.A297G	PSMD3_ENST00000541736.1_Missense_Mutation_p.A159G	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	297					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CGAATCAAAGCCATCCAGCTG	0.587																																					Ovarian(186;531 2051 6385 19668 48409)												0								ENSG00000108344						69	59	63					17																	38146359		2203	4300	6503	PSMD3	SO:0001583	missense	0			-	HGNC	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.890C>G	17.37:g.38146359C>G	ENSP00000264639:p.Ala297Gly	Somatic	0	53	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	45	43.75	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP							pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.A297G	ENST00000264639.4	37	c.890	CCDS11356.1	17	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628416	0.67015	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	T;T	0.76578	-1.03;-1.03	4.96	2.97	0.34412	Tetratricopeptide-like helical (1);PCI/PINT associated module (1);	0.051446	0.85682	D	0.000000	D	0.83575	0.5284	H	0.94771	3.58	0.80722	D	1	P	0.46621	0.881	P	0.44518	0.452	D	0.85104	0.0959	10	0.72032	D	0.01	-14.5673	9.9572	0.41675	0.0:0.7844:0.1396:0.076	.	297	O43242	PSMD3_HUMAN	G	297;284;159	ENSP00000264639:A297G;ENSP00000442508:A159G	ENSP00000264639:A297G	A	+	2	0	PSMD3	35399885	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.446000	0.80609	0.679000	0.31345	0.655000	0.94253	GCC	-	smart_PAM		0.587	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	protein_coding	OTTHUMT00000257018.1	C	NM_002809	-		38146359	1	no_errors	ENST00000264639	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38146359	C	G	38146359	3	3	222	1	0	0	0	0	1	0	0	0	12704	739	26	4	912	4	PSMD3	17	38146359	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	36363842	38146359	43048851	23	17980											
KRT27	342574	genome.wustl.edu	37	chr17	38935802	38935802	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggtttgaagagtgcgTttcatctcgataagctcatt	10	7	4	2			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr17:38935802T>C	ENST00000301656.3	-	5	964	c.924A>G	c.(922-924)aaA>aaG	p.K308K	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				GAAGAGTGCGTTTCATCTCGA	0.493																																																	0								ENSG00000171446						71	64	66					17																	38935802		2203	4300	6503	KRT27	SO:0001819	synonymous_variant	0			-	HGNC	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.924A>G	17.37:g.38935802T>C		Somatic	0	49	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	29	45.28		Silent	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K308	ENST00000301656.3	37	c.924	CCDS11375.1	17																																																																																			-	pfam_IF,superfamily_Prefoldin		0.493	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	protein_coding	OTTHUMT00000257216.1	T	NM_181537	-		38935802	-1	no_errors	ENST00000301656	ensembl	human	known	74_37	silent	SNP	0.999	C	C	38935802	T	C	38935802	2	2	222	1	0	0	0	0	0	0	0	1	8466	1722	60	5		5	KRT27	17	38935802	Silent	SNP	T	TCGA-WK-A8XQ-01A-11D-A37C-09	789443	38935802	42259408	24	17981											
UNC13D	201294	genome.wustl.edu	37	chr17	73839249	73839249	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgggctcacctcctgcagGtatcgcagcagctcagaggc	13	15	2	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr17:73839249G>T	ENST00000207549.4	-	3	631	c.252C>A	c.(250-252)taC>taA	p.Y84*	UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Y84*|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	84					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCCTGCAGGTATCGCAGCA	0.682									Familial Hemophagocytic Lymphohistiocytosis																																								0								ENSG00000092929						46	47	47					17																	73839249		2203	4300	6503	UNC13D	SO:0001587	stop_gained	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.252C>A	17.37:g.73839249G>T	ENSP00000207549:p.Tyr84*	Somatic	0	25	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B4DWG9|Q9H7K5	Nonsense_Mutation	SNP							pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.Y84*	ENST00000207549.4	37	c.252	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.420418	0.96111	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	.	.	.	4.72	1.23	0.21249	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0154	4.925	0.13889	0.2788:0.1593:0.5619:0.0	.	.	.	.	X	84	.	ENSP00000207549:Y84X	Y	-	3	2	UNC13D	71350844	0.999000	0.42202	0.989000	0.46669	0.128000	0.20619	0.306000	0.19279	0.924000	0.37069	0.561000	0.74099	TAC	-	NULL		0.682	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	G	XM_113950	-		73839249	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	nonsense	SNP	0.997	T	T	73839249	G	T	73839249	4	4	222	1	0	0	0	0	0	1	0	0	16994	1256	44	3	3140	3	UNC13D	17	73839249	Nonsense_Mutation	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09	34903447	73839249	7355961	25	17982											
CREB3L3	84699	genome.wustl.edu	37	chr19	4171147	4171147	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgcagtccaccagcaagtCagcccagacaggcacctgtg	12	14	1	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr19:4171147C>T	ENST00000078445.2	+	8	1097	c.950C>T	c.(949-951)tCa>tTa	p.S317L	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602147.1_Silent_p.V281V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S316L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S315L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	317					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCAAGTCAGCCCAGACA	0.607																																																	0								ENSG00000060566						76	71	72					19																	4171147		2203	4300	6503	CREB3L3	SO:0001583	missense	0			-	HGNC		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.950C>T	19.37:g.4171147C>T	ENSP00000078445:p.Ser317Leu	Somatic	0	40	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	33	51.47	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP							pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S317L	ENST00000078445.2	37	c.950	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146870	0.57151	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.84223	-1.82	4.58	4.58	0.56647	.	0.353602	0.26023	N	0.026810	D	0.86485	0.5944	M	0.65975	2.015	0.80722	D	1	P;P;P	0.48640	0.828;0.913;0.858	B;P;B	0.47044	0.197;0.535;0.334	D	0.88006	0.2759	10	0.56958	D	0.05	-0.0711	14.8629	0.70394	0.0:1.0:0.0:0.0	.	315;316;317	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	L	317;275	ENSP00000078445:S317L	ENSP00000078445:S317L	S	+	2	0	CREB3L3	4122147	0.994000	0.37717	0.949000	0.38748	0.231000	0.25187	5.371000	0.66150	2.093000	0.63338	0.561000	0.74099	TCA	-	NULL		0.607	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	protein_coding	OTTHUMT00000457922.1	C	NM_032607	-		4171147	1	no_errors	ENST00000078445	ensembl	human	known	74_37	missense	SNP	0.925	T	T	4171147	C	T	4171147	3	4	222	1	0	0	0	0	1	0	0	0	3860	838	29	2	980	2	CREB3L3	19	4171147	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09		4171147	54957836	26	17983											
CACNA1A	773	genome.wustl.edu	37	chr19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-													cggcccggcctggccaccgcCtgctgctgctgctgctgctg					rs16054|rs370146696	byFrequency	TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	CTGCTG	CTGCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr19:13318673_13318678delCTGCTG	ENST00000360228.5	-	47	6969_6974	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_ENST00000573710.2_3'UTR	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	2323	Poly-Gln.				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)			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)	TGGCCACCGCctgctgctgctgctgc	0.767																																																	0								ENSG00000141837																																			CACNA1A	SO:0001651	inframe_deletion	0				HGNC	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.6970_6975delCAGCAG	19.37:g.13318679_13318684delCTGCTG	ENSP00000353362:p.Gln2324_Gln2325del	Somatic					0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1				J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.QQ2324in_frame_del	ENST00000360228.5	37	c.6975_6970	CCDS45998.1	19																																																																																			-	NULL		0.767	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	CTGCTG	NM_000068			13318678	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	in_frame_del	DEL	0.259:0.316:0.374:0.432:0.459:0.497	-	-	13318678	CTGCTG	-	13318673	7	5	222	1	0	1	0	1	0	0	0	0	2540	680	24	0	549	0	CACNA1A	19	13318673	In_Frame_Del	DEL	CTGCTG	TCGA-WK-A8XQ-01A-11D-A37C-09	9147526	13318673	45810310	27	17984											
ANKLE1	126549	genome.wustl.edu	37	chr19	17394064	17394064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggacctaccgatgagaCgctggactccatagcactcc	9	15	1	1			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr19:17394064C>T	ENST00000394458.3	+	5	767	c.491C>T	c.(490-492)aCg>aTg	p.T164M	ANKLE1_ENST00000594072.1_Missense_Mutation_p.T153M|ANKLE1_ENST00000404085.1_Missense_Mutation_p.T186M|ANKLE1_ENST00000433424.2_Missense_Mutation_p.T218M|ANKLE1_ENST00000598347.1_Missense_Mutation_p.T164M	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	164										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCGATGAGACGCTGGACTCC	0.592											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000160117						61	61	61					19																	17394064		2203	4300	6503	ANKLE1	SO:0001583	missense	0			-	HGNC	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.491C>T	19.37:g.17394064C>T	ENSP00000377971:p.Thr164Met	Somatic	0	26	0	717	0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8VU82|Q8N8J8	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom	p.T164M	ENST00000394458.3	37	c.491	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	C	6.584	0.476018	0.12521	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.72725	-0.57;-0.67;-0.68	3.58	-4.66	0.03329	.	12.237900	0.00654	N	0.000562	T	0.47173	0.1431	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.38167	0.291;0.621;0.002;0.002	B;B;B;B	0.24006	0.009;0.05;0.001;0.0	T	0.45056	-0.9287	10	0.36615	T	0.2	-14.946	6.255	0.20870	0.0:0.3888:0.1324:0.4788	.	164;150;164;153	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	M	164;218;186;153;164	ENSP00000384753:T164M;ENSP00000394460:T218M;ENSP00000384008:T186M	ENSP00000377971:T153M	T	+	2	0	ANKLE1	17255064	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.360000	0.02600	-0.950000	0.03659	-1.786000	0.00637	ACG	-	NULL		0.592	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	protein_coding	OTTHUMT00000325392.2	C	NM_152363	-		17394064	1	no_errors	ENST00000394458	ensembl	human	known	74_37	missense	SNP	0.000	T	T	17394064	C	T	17394064	3	4	222	1	0	0	0	0	1	0	0	0	632	536	19	1	509	1	ANKLE1	19	17394064	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	4075391	17394064	41734919	28	17985											
ZNF285	26974	genome.wustl.edu	37	chr19	44891263	44891263	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaaggttggagctctgatCaaagcccttcccacactctt	8	12	3	2			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chr19:44891263C>A	ENST00000330997.4	-	4	1208	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	ZNF285_ENST00000544719.2_Missense_Mutation_p.D382Y|ZNF285_ENST00000591679.1_Missense_Mutation_p.D389Y|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	382					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAGCTCTGATCAAAGCCCTTC	0.463																																																	0								ENSG00000267508						62	62	62					19																	44891263		2203	4300	6503	ZNF285	SO:0001583	missense	0			-	HGNC	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1144G>T	19.37:g.44891263C>A	ENSP00000333595:p.Asp382Tyr	Somatic	0	90	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	48	49.47	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D382Y	ENST00000330997.4	37	c.1144	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132186	0.21041	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17370	2.28	3.36	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	N	0.17248	0.465	0.09310	N	1	P;P	0.44309	0.832;0.801	P;P	0.49140	0.601;0.58	T	0.20240	-1.0281	9	0.87932	D	0	.	3.4849	0.07615	0.2968:0.1973:0.0:0.5059	.	406;382	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Y	405;382	ENSP00000333595:D382Y	ENSP00000333595:D382Y	D	-	1	0	ZNF285	49583103	0.000000	0.05858	0.147000	0.22382	0.950000	0.60333	-4.159000	0.00283	-0.051000	0.13334	0.298000	0.19748	GAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	protein_coding	OTTHUMT00000443600.1	C	NM_152354	-		44891263	-1	no_errors	ENST00000330997	ensembl	human	known	74_37	missense	SNP	0.000	A	A	44891263	C	A	44891263	3	1	222	1	0	0	0	0	1	0	0	0	17829	826	29	3	632	3	ZNF285	19	44891263	Missense_Mutation	SNP	C	TCGA-WK-A8XQ-01A-11D-A37C-09	27497199	44891263	14237720	29	17986											
GEMIN8	54960	genome.wustl.edu	37	chrX	14038512	14038512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgcagaaggtaagtaccatgGaagattgaaacaggattcca	11	7	0	3			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chrX:14038512G>T	ENST00000380523.4	-	4	475	c.157C>A	c.(157-159)Cca>Aca	p.P53T	GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53T|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	53					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						AAGTACCATGGAAGATTGAAA	0.473																																																	0								ENSG00000046647						131	116	121					X																	14038512		2203	4300	6503	GEMIN8	SO:0001583	missense	0			-	HGNC	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.157C>A	X.37:g.14038512G>T	ENSP00000369895:p.Pro53Thr	Somatic	0	19	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP							NULL	p.P53T	ENST00000380523.4	37	c.157	CCDS14159.1	X	.	.	.	.	.	.	.	.	.	.	g	13.64	2.296121	0.40594	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.41400	1.0;1.0;1.0	5.11	3.25	0.37280	.	0.520319	0.20818	N	0.085113	T	0.47673	0.1458	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.54544	0.755	T	0.31447	-0.9943	10	0.33940	T	0.23	.	7.6814	0.28515	0.2827:0.0:0.7173:0.0	.	53	Q9NWZ8	GEMI8_HUMAN	T	53	ENSP00000369895:P53T;ENSP00000381398:P53T;ENSP00000369894:P53T	ENSP00000369894:P53T	P	-	1	0	GEMIN8	13948433	0.007000	0.16637	0.001000	0.08648	0.022000	0.10575	0.859000	0.27858	0.337000	0.23665	-0.390000	0.06520	CCA	-	NULL		0.473	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN8	protein_coding	OTTHUMT00000055815.1	G	NM_017856	-		14038512	-1	no_errors	ENST00000380523	ensembl	human	known	74_37	missense	SNP	0.011	T	T	14038512	G	T	14038512	3	4	222	1	0	0	0	0	1	0	0	0	6336	1174	41	3	579	3	GEMIN8	23	14038512	Missense_Mutation	SNP	G	TCGA-WK-A8XQ-01A-11D-A37C-09		14038512	141232048	30	17987											
MUM1L1	139221	genome.wustl.edu	37	chrX	105451169	105451169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcacaaaaggatccagaTggctgaaatcatttttgaat	9	6	1	3			TCGA-WK-A8XQ-01A-11D-A37C-09	TCGA-WK-A8XQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3	779e9645-be20-45ce-842e-6224726c5e5a	g.chrX:105451169T>C	ENST00000357175.2	+	4	2393	c.1744T>C	c.(1744-1746)Tgg>Cgg	p.W582R	MUM1L1_ENST00000337685.2_Missense_Mutation_p.W582R|MUM1L1_ENST00000372552.1_Missense_Mutation_p.W582R	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	582						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGGATCCAGATGGCTGAAATC	0.413																																																	0								ENSG00000157502						49	43	45					X																	105451169		1865	4093	5958	MUM1L1	SO:0001583	missense	0			-	HGNC	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1744T>C	X.37:g.105451169T>C	ENSP00000349699:p.Trp582Arg	Somatic	0	18	0		0.713230455216856				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	0	100.00	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP							superfamily_PyrdxlP-dep_Trfase	p.W582R	ENST00000357175.2	37	c.1744	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	T	15.70	2.911846	0.52439	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.41065	1.01;1.01;1.01	5.08	5.08	0.68730	.	0.000000	0.49305	D	0.000143	T	0.61999	0.2392	M	0.73598	2.24	0.39573	D	0.969304	D	0.89917	1.0	D	0.91635	0.999	T	0.67734	-0.5594	10	0.87932	D	0	-41.673	10.1122	0.42570	0.0:0.0:0.0:1.0	.	582	Q5H9M0	MUML1_HUMAN	R	582	ENSP00000349699:W582R;ENSP00000338641:W582R;ENSP00000361632:W582R	ENSP00000338641:W582R	W	+	1	0	MUM1L1	105337825	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.428000	0.52792	1.992000	0.58205	0.486000	0.48141	TGG	-	NULL		0.413	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	protein_coding	OTTHUMT00000057795.1	T	NM_152423	-		105451169	1	no_errors	ENST00000337685	ensembl	human	known	74_37	missense	SNP	0.999	C	C	105451169	T	C	105451169	3	2	222	1	0	0	0	0	1	0	0	0	9988	1464	51	5	1746	5	MUM1L1	23	105451169	Missense_Mutation	SNP	T	TCGA-WK-A8XQ-01A-11D-A37C-09	91412657	105451169	49819391	31	17988											
LCE1F	353137	genome.wustl.edu	37	chr1	152748991	152748991	+	Silent	SNP	C	C	T													tcctgctgcagcgtcagctcCggaggctgctgtggctccag					rs573519221	byFrequency	TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr1:152748991C>T	ENST00000334371.2	+	1	144	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	48					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGTCAGCTCCGGAGGCTGCT	0.667													.|||	7	0.00139776	8e-04	0	5008	,	,		15152	0.001		0	False		,,,				2504	0.0051																0								ENSG00000240386						45	47	47					1																	152748991		2203	4300	6503	LCE1F	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.144C>T	1.37:g.152748991C>T		Somatic	0	85	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	89	11.00		Silent	SNP							NULL	p.S48	ENST00000334371.2	37	c.144	CCDS1023.1	1																																																																																			-	NULL		0.667	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1F	protein_coding	OTTHUMT00000034523.2	C	NM_178354	-		152748991	1	no_errors	ENST00000334371	ensembl	human	known	74_37	silent	SNP	0.786	T	T	152748991	C	T	152748991	2	4	223	1	0	0	0	0	0	0	0	1	8666	639	23	1		1	LCE1F	1	152748991	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		152748991	96501630	1	17989	487	2									
LCE1F	353137	genome.wustl.edu	37	chr1	152748994	152748994	+	Silent	SNP	A	A	G													tgctgcagcgtcagctccggAggctgctgtggctccagctc					rs562170324	byFrequency	TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr1:152748994A>G	ENST00000334371.2	+	1	147	c.147A>G	c.(145-147)ggA>ggG	p.G49G		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	49					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGCTCCGGAGGCTGCTGTG	0.677													.|||	6	0.00119808	8e-04	0	5008	,	,		15070	0.001		0	False		,,,				2504	0.0041																0								ENSG00000240386						42	45	44					1																	152748994		2203	4300	6503	LCE1F	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.147A>G	1.37:g.152748994A>G		Somatic	0	82	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	89	11.00		Silent	SNP							NULL	p.G49	ENST00000334371.2	37	c.147	CCDS1023.1	1																																																																																			-	NULL		0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1F	protein_coding	OTTHUMT00000034523.2	A	NM_178354	-		152748994	1	no_errors	ENST00000334371	ensembl	human	known	74_37	silent	SNP	0.848	G	G	152748994	A	G	152748994	2	3	223	1	0	0	0	0	0	0	0	1	8666	291	11	5		5	LCE1F	1	152748994	Silent	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	3	152748994	96501627	2	17990	487	2									
SLAMF8	56833	genome.wustl.edu	37	chr1	159799923	159799923	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agacagcggcaacttctccgTgttgatggtggacacaaggg	14	9	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr1:159799923T>A	ENST00000289707.5	+	2	457	c.308T>A	c.(307-309)gTg>gAg	p.V103E	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	103					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					AACTTCTCCGTGTTGATGGTG	0.632																																																	0								ENSG00000158714						47	49	48					1																	159799923		2203	4300	6503	SLAMF8	SO:0001583	missense	0			-	HGNC	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.308T>A	1.37:g.159799923T>A	ENSP00000289707:p.Val103Glu	Somatic	0	37	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	Q32MC6|Q5VU15	Missense_Mutation	SNP							pfscan_Ig-like_dom	p.V103E	ENST00000289707.5	37	c.308	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723624	0.48728	.	.	ENSG00000158714	ENST00000289707	T	0.25579	1.79	4.44	4.44	0.53790	.	0.377503	0.25258	N	0.031972	T	0.12475	0.0303	L	0.32530	0.975	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	T	0.02365	-1.1170	10	0.59425	D	0.04	-13.682	10.0044	0.41949	0.0:0.0:0.0:1.0	.	103	Q9P0V8	SLAF8_HUMAN	E	103	ENSP00000289707:V103E	ENSP00000289707:V103E	V	+	2	0	SLAMF8	158066547	0.884000	0.30299	0.797000	0.32132	0.881000	0.50899	2.238000	0.43070	1.861000	0.53984	0.260000	0.18958	GTG	-	NULL		0.632	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	protein_coding	OTTHUMT00000085983.1	T	NM_020125	-		159799923	1	no_errors	ENST00000289707	ensembl	human	known	74_37	missense	SNP	0.778	A	A	159799923	T	A	159799923	3	1	223	1	0	0	0	0	1	0	0	0	14378	1696	59	5	314	5	SLAMF8	1	159799923	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09	7050929	159799923	89450698	3	17991											
RASAL2	9462	genome.wustl.edu	37	chr1	178269251	178269251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagagggcgccactaaacTgggtaagctactatgaaaag	11	9	0	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr1:178269251T>G	ENST00000367649.3	+	3	807	c.455T>G	c.(454-456)cTg>cGg	p.L152R	RASAL2_ENST00000448150.3_Missense_Mutation_p.L134R			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCCACTAAACTGGGTAAGCTA	0.458											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000075391						56	59	58					1																	178269251		2203	4300	6503	RASAL2	SO:0001583	missense	0			-	HGNC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.455T>G	1.37:g.178269251T>G	ENSP00000356621:p.Leu152Arg	Somatic	0	41	0	1945	0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP							pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L152R	ENST00000367649.3	37	c.455	CCDS1321.2	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178999	0.78564	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.20881	2.07;2.04	5.61	5.61	0.85477	.	0.490245	0.19404	N	0.115110	T	0.37433	0.1003	L	0.36672	1.1	0.51767	D	0.999932	D	0.69078	0.997	D	0.78314	0.991	T	0.07028	-1.0794	10	0.56958	D	0.05	.	15.0834	0.72133	0.0:0.0:0.0:1.0	.	152	F8W755	.	R	134;152	ENSP00000407768:L134R;ENSP00000356621:L152R	ENSP00000356621:L152R	L	+	2	0	RASAL2	176535874	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.728000	0.68531	2.254000	0.74563	0.533000	0.62120	CTG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.458	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000352415.1	T	NM_170692	-		178269251	1	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	SNP	1.000	G	G	178269251	T	G	178269251	3	3	223	1	0	0	0	0	1	0	0	0	13072	1580	55	5	465	5	RASAL2	1	178269251	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09	18469328	178269251	70981370	4	17992											
OR13G1	441933	genome.wustl.edu	37	chr1	247835974	247835974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtaatgaagagggaaacAaatggccacatagcggtcat	11	7	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr1:247835974A>G	ENST00000359688.2	-	1	391	c.370T>C	c.(370-372)Tgt>Cgt	p.C124R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAGGGAAACAAATGGCCACA	0.488																																																	0								ENSG00000197437						99	82	88					1																	247835974		2203	4300	6503	OR13G1	SO:0001583	missense	0			-	HGNC	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.370T>C	1.37:g.247835974A>G	ENSP00000352717:p.Cys124Arg	Somatic	0	24	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C124R	ENST00000359688.2	37	c.370	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075084	0.55646	.	.	ENSG00000197437	ENST00000359688	T	0.34472	1.36	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.65439	0.2691	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73164	-0.4069	10	0.72032	D	0.01	-43.0462	11.5555	0.50745	1.0:0.0:0.0:0.0	.	124	Q8NGZ3	O13G1_HUMAN	R	124	ENSP00000352717:C124R	ENSP00000352717:C124R	C	-	1	0	OR13G1	245902597	0.323000	0.24643	0.987000	0.45799	0.505000	0.33919	3.249000	0.51437	1.888000	0.54679	0.460000	0.39030	TGT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.488	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	protein_coding	OTTHUMT00000096869.1	A	NM_001005487	-		247835974	-1	no_errors	ENST00000359688	ensembl	human	known	74_37	missense	SNP	1.000	G	G	247835974	A	G	247835974	3	3	223	1	0	0	0	0	1	0	0	0	10944	130	5	5	557	5	OR13G1	1	247835974	Missense_Mutation	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	69566723	247835974	1414647	5	17993											
GPR113	165082	genome.wustl.edu	37	chr2	26536280	26536280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaggccaggagcctcgcatCtgtgcagctgctgtggaccg	14	13	1	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr2:26536280C>T	ENST00000311519.1	-	9	1437	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.D83N|GPR113_ENST00000333478.6_Missense_Mutation_p.D281N|GPR113_ENST00000421160.2_Missense_Mutation_p.D411N	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	480					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCTCGCATCTGTGCAGCTG	0.647																																																	0								ENSG00000173567						27	27	27					2																	26536280		2202	4300	6502	GPR113	SO:0001583	missense	0			-	HGNC	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1438G>A	2.37:g.26536280C>T	ENSP00000307831:p.Asp480Asn	Somatic	0	50	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D281N	ENST00000311519.1	37	c.841	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512387	0.44660	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.29397	1.57;3.08;3.08;3.08	5.84	4.96	0.65561	.	.	.	.	.	T	0.35480	0.0933	M	0.64997	1.995	0.80722	D	1	B;B;B;B	0.25609	0.1;0.13;0.061;0.082	B;B;B;B	0.32928	0.155;0.064;0.063;0.096	T	0.10428	-1.0630	9	0.27785	T	0.31	-14.3356	14.8179	0.70048	0.0:0.8552:0.1448:0.0	.	411;281;480;83	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	N	83;281;411;480	ENSP00000445729:D83N;ENSP00000327396:D281N;ENSP00000388537:D411N;ENSP00000307831:D480N	ENSP00000307831:D480N	D	-	1	0	GPR113	26389784	0.465000	0.25815	0.498000	0.27564	0.381000	0.30169	1.153000	0.31676	1.462000	0.47948	0.561000	0.74099	GAT	-	NULL		0.647	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	protein_coding	OTTHUMT00000316892.1	C	NM_153835	-		26536280	-1	no_errors	ENST00000333478	ensembl	human	known	74_37	missense	SNP	0.629	T	T	26536280	C	T	26536280	3	4	223	1	0	0	0	0	1	0	0	0	6632	913	32	2	1910	2	GPR113	2	26536280	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		26536280	216663093	6	17994											
SLC4A7	9497	genome.wustl.edu	37	chr3	27453211	27453211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgggggtagatccaTtgtgaaacacaggaatcttt	12	7	1	2	rs370056312		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr3:27453211T>C	ENST00000295736.5	-	12	1731	c.1661A>G	c.(1660-1662)aAt>aGt	p.N554S	SLC4A7_ENST00000455077.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N546S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N546S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N430S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N563S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N104S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N439S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	554					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GGTAGATCCATTGTGAAACAC	0.413																																																	0								ENSG00000033867	T	SER/ASN	0,4406		0,0,2203	57	59	58		1661	5.4	1	3		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC4A7	NM_003615.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	554/1215	27453211	1,13005	2203	4300	6503	SLC4A7	SO:0001583	missense	0			-	HGNC	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1661A>G	3.37:g.27453211T>C	ENSP00000295736:p.Asn554Ser	Somatic	0	69	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	85	12.37	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP							pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.N563S	ENST00000295736.5	37	c.1688	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867078	0.51588	0.0	1.16E-4	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.36;-1.06;-1.11;-1.07;-1.15;-1.11;-1.14;-1.11;-1.14;-1.11;-1.37;0.24;-1.1	5.43	5.43	0.79202	Bicarbonate transporter, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.73598	2.24	0.41352	D	0.987372	D;D;D;D;D;D;D;D;D	0.61080	0.985;0.977;0.985;0.976;0.985;0.963;0.987;0.985;0.989	P;P;P;P;P;P;D;P;D	0.67548	0.867;0.887;0.867;0.695;0.867;0.883;0.947;0.867;0.952	D	0.84750	0.0756	10	0.11182	T	0.66	.	15.7674	0.78138	0.0:0.0:0.0:1.0	.	550;435;546;550;563;104;430;554;435	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	105;554;430;563;550;435;546;435;550;439;104;546;450	ENSP00000411031:N105S;ENSP00000295736:N554S;ENSP00000416368:N430S;ENSP00000390394:N563S;ENSP00000414797:N550S;ENSP00000394252:N435S;ENSP00000406605:N546S;ENSP00000407382:N435S;ENSP00000406804:N550S;ENSP00000395336:N439S;ENSP00000373429:N104S;ENSP00000401949:N546S;ENSP00000388703:N450S	ENSP00000295736:N554S	N	-	2	0	SLC4A7	27428215	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.499000	0.81566	2.179000	0.69175	0.533000	0.62120	AAT	-	tigrfam_HCO3_transpt_euk		0.413	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	protein_coding	OTTHUMT00000341230.2	T	NM_003615	-		27453211	-1	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	SNP	1.000	C	C	27453211	T	C	27453211	3	2	223	1	0	0	0	0	1	0	0	0	14666	1493	52	5	2039	5	SLC4A7	3	27453211	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09		27453211	170569219	7	17995											
ERCC8	1161	genome.wustl.edu	37	chr5	60200672	60200672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatatgatgactataaactGtttcctcaaaattaaataca	3	7	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr5:60200672G>T	ENST00000265038.5	-	5	470	c.428C>A	c.(427-429)aCa>aAa	p.T143K	ERCC8_ENST00000543101.1_Intron|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.T85K	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	143					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ACTATAAACTGTTTCCTCAAA	0.303																																																	0								ENSG00000049167						106	107	107					5																	60200672		2203	4298	6501	ERCC8	SO:0001583	missense	0			-	HGNC	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.428C>A	5.37:g.60200672G>T	ENSP00000265038:p.Thr143Lys	Somatic	0	39	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T143K	ENST00000265038.5	37	c.428	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295133	0.40594	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000536596;ENST00000439176	T;T;T	0.81163	-1.46;-1.46;-0.0	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.203253	0.51477	D	0.000086	T	0.70211	0.3198	N	0.21448	0.665	0.80722	D	1	B;B	0.16603	0.009;0.018	B;B	0.13407	0.009;0.006	T	0.63989	-0.6512	10	0.15499	T	0.54	-11.9328	18.2637	0.90044	0.0:0.0:1.0:0.0	.	143;143	Q13216-2;Q13216	.;ERCC8_HUMAN	K	85;143;142;85	ENSP00000400110:T85K;ENSP00000265038:T143K;ENSP00000408344:T85K	ENSP00000265038:T143K	T	-	2	0	ERCC8	60236429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.797000	0.69087	2.765000	0.95021	0.655000	0.94253	ACA	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.303	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	protein_coding	OTTHUMT00000214971.2	G	NM_000082	-		60200672	-1	no_errors	ENST00000265038	ensembl	human	known	74_37	missense	SNP	1.000	T	T	60200672	G	T	60200672	3	4	223	1	0	0	0	0	1	0	0	0	5221	1377	48	3	794	3	ERCC8	5	60200672	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09		60200672	120714588	8	17996											
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171766855	171766855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttgtcaatgaaggtggcCggggcccacccttccttatc	10	13	1	1	rs115528822		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr5:171766855C>T	ENST00000311601.5	-	13	1424	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	418	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAGGTGGCCGGGGCCCACC	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		18542	0		0	False		,,,				2504	0																0								ENSG00000174705						67	69	68					5																	171766855		2203	4300	6503	SH3PXD2B	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1254G>A	5.37:g.171766855C>T		Somatic	0	25	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	20	45.95	B6F0V2|Q9P2Q1	Silent	SNP							pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.P418	ENST00000311601.5	37	c.1254	CCDS34291.1	5																																																																																			-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.562	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	C	NM_017963	rs115528822		171766855	-1	no_errors	ENST00000311601	ensembl	human	known	74_37	silent	SNP	0.991	T	T	171766855	C	T	171766855	2	4	223	1	0	0	0	0	0	0	0	1	14265	639	23	1		1	SH3PXD2B	5	171766855	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	111566183	171766855	9148405	9	17997											
TRIM26	7726	genome.wustl.edu	37	chr6	30154038	30154038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgattcctcatcttcgtccGtttcccagtcgtcatatcca	5	15	3	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr6:30154038G>A	ENST00000454678.2	-	10	1671	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	TRIM26_ENST00000437089.1_Missense_Mutation_p.T412M|TRIM26_ENST00000453195.1_Missense_Mutation_p.T412M	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	412	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						ATCTTCGTCCGTTTCCCAGTC	0.552																																																	0								ENSG00000234127						135	73	96					6																	30154038		1511	2709	4220	TRIM26	SO:0001583	missense	0			-	HGNC	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1235C>T	6.37:g.30154038G>A	ENSP00000410446:p.Thr412Met	Somatic	0	36	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	4	86.21	A6NG96|Q5SRL2	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T412M	ENST00000454678.2	37	c.1235	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	G	5.120	0.207719	0.09704	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.63096	-0.02;-0.02;-0.02	5.1	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.47455	D	0.000223	T	0.33089	0.0851	N	0.22421	0.69	0.09310	N	1	P;P	0.50443	0.935;0.813	P;B	0.45276	0.475;0.214	T	0.13019	-1.0525	10	0.56958	D	0.05	.	9.3508	0.38138	0.0965:0.0:0.9035:0.0	.	412;412	Q5SRL2;Q12899	.;TRI26_HUMAN	M	412	ENSP00000391879:T412M;ENSP00000410446:T412M;ENSP00000395491:T412M	ENSP00000395491:T412M	T	-	2	0	TRIM26	30262017	0.963000	0.33076	0.097000	0.21041	0.003000	0.03518	2.854000	0.48325	1.377000	0.46286	-0.277000	0.10078	ACG	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.552	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	protein_coding	OTTHUMT00000253442.1	G	NM_003449	-		30154038	-1	no_errors	ENST00000437089	ensembl	human	known	74_37	missense	SNP	0.020	A	A	30154038	G	A	30154038	3	1	223	1	0	0	0	0	1	0	0	0	16507	1145	40	1	388	1	TRIM26	6	30154038	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09		30154038	140961029	10	17998											
MYO6	4646	genome.wustl.edu	37	chr6	76599937	76599937	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaagaaaaagacgtgAagaagacgaaaaacgtcgaa	11	4	0	5			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr6:76599937A>C	ENST00000369977.3	+	26	2961	c.2822A>C	c.(2821-2823)gAa>gCa	p.E941A	MYO6_ENST00000369981.3_Missense_Mutation_p.E941A|MYO6_ENST00000369975.1_Missense_Mutation_p.E941A|MYO6_ENST00000369985.4_Missense_Mutation_p.E941A	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	941	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAAGACGTGAAGAAGACGAA	0.383																																																	0								ENSG00000196586						98	117	110					6																	76599937		2203	4300	6503	MYO6	SO:0001583	missense	0			-	HGNC	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2822A>C	6.37:g.76599937A>C	ENSP00000358994:p.Glu941Ala	Somatic	0	32	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E941A	ENST00000369977.3	37	c.2822	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349351	0.41599	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.67698	2.23;3.72;3.72;-0.28;0.88	5.98	5.98	0.97165	.	0.153546	0.56097	D	0.000027	T	0.78868	0.4351	M	0.85041	2.73	0.80722	D	1	D;D	0.56035	0.974;0.974	D;D	0.70487	0.969;0.969	T	0.78001	-0.2375	10	0.29301	T	0.29	.	16.1462	0.81575	1.0:0.0:0.0:0.0	.	941;941	Q9UM54-2;Q9UM54-1	.;.	A	941;941;941;941;941;4	ENSP00000358998:E941A;ENSP00000359002:E941A;ENSP00000358994:E941A;ENSP00000358992:E941A;ENSP00000399406:E4A	ENSP00000358992:E941A	E	+	2	0	MYO6	76656657	1.000000	0.71417	0.922000	0.36590	0.022000	0.10575	8.097000	0.89539	2.296000	0.77279	0.482000	0.46254	GAA	-	NULL		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	protein_coding	OTTHUMT00000041279.2	A	NM_004999	-		76599937	1	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	SNP	1.000	C	C	76599937	A	C	76599937	3	2	223	1	0	0	0	0	1	0	0	0	10083	246	9	5	2920	5	MYO6	6	76599937	Missense_Mutation	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	46445899	76599937	94515130	11	17999											
HIVEP2	3097	genome.wustl.edu	37	chr6	143092313	143092313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgatgtggaaataagTgtggctgttcaggtaagtgc	13	5	2	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr6:143092313T>A	ENST00000367604.1	-	4	4202	c.3563A>T	c.(3562-3564)cAc>cTc	p.H1188L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.H1188L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.H1188L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1188					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)		TGGAAATAAGTGTGGCTGTTC	0.418																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0								ENSG00000010818						178	183	181					6																	143092313		2030	4182	6212	HIVEP2	SO:0001583	missense	0			-	HGNC	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.3563A>T	6.37:g.143092313T>A	ENSP00000356576:p.His1188Leu	Somatic	0	26	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1188L	ENST00000367604.1	37	c.3563	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	T	9.870	1.198558	0.22121	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02301	4.35;4.35;4.35	5.8	3.34	0.38264	.	0.477990	0.26696	N	0.022977	T	0.00695	0.0023	L	0.34521	1.04	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.49263	-0.8958	10	0.36615	T	0.2	-7.2678	7.3605	0.26744	0.0:0.0706:0.3036:0.6258	.	1188	P31629	ZEP2_HUMAN	L	1188	ENSP00000356576:H1188L;ENSP00000356575:H1188L;ENSP00000012134:H1188L	ENSP00000012134:H1188L	H	-	2	0	HIVEP2	143134006	0.836000	0.29430	0.641000	0.29422	0.991000	0.79684	1.256000	0.32921	0.426000	0.26116	0.533000	0.62120	CAC	-	NULL		0.418	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	T		-		143092313	-1	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	SNP	0.024	A	A	143092313	T	A	143092313	3	1	223	1	0	0	0	0	1	0	0	0	7189	1696	59	5	3801	5	HIVEP2	6	143092313	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09	66492376	143092313	28022754	12	18000											
SP4	6671	genome.wustl.edu	37	chr7	21470337	21470337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggctgttgctggtgcCccaataactttgaatactgc	10	11	0	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:21470337C>T	ENST00000222584.3	+	3	1772	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	518					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTGCTGGTGCCCCAATAACTT	0.512																																																	0								ENSG00000105866						103	107	106					7																	21470337		2203	4300	6503	SP4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1554C>T	7.37:g.21470337C>T		Somatic	0	25	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	O60402|Q32M52	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A518	ENST00000222584.3	37	c.1554	CCDS5373.1	7																																																																																			-	NULL		0.512	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	protein_coding	OTTHUMT00000211617.2	C	NM_003112	-		21470337	1	no_errors	ENST00000222584	ensembl	human	known	74_37	silent	SNP	1.000	T	T	21470337	C	T	21470337	2	4	223	1	0	0	0	0	0	0	0	1	14974	610	22	2		2	SP4	7	21470337	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		21470337	137668326	13	18001											
CCDC129	223075	genome.wustl.edu	37	chr7	31683190	31683198	+	In_Frame_Del	DEL	GAATGCACT	GAATGCACT	-													gtcccagaggaacatctttaGaatgcactgtgtgtgatcct							TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	GAATGCACT	GAATGCACT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:31683190_31683198delGAATGCACT	ENST00000407970.3	+	11	2244_2252	c.2206_2214delGAATGCACT	c.(2206-2214)gaatgcactdel	p.ECT736del	CCDC129_ENST00000319386.3_In_Frame_Del_p.ECT588del|CCDC129_ENST00000409210.1_In_Frame_Del_p.ECT644del|CCDC129_ENST00000451887.2_In_Frame_Del_p.ECT762del	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	736										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACATCTTTAGAATGCACTGTGTGTGATC	0.512																																																	0								ENSG00000180347																																			CCDC129	SO:0001651	inframe_deletion	0				HGNC	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2206_2214delGAATGCACT	7.37:g.31683190_31683198delGAATGCACT	ENSP00000384416:p.Glu736_Thr738del	Somatic					0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	In_Frame_Del	DEL							NULL	p.ECT762in_frame_del	ENST00000407970.3	37	c.2284_2292	CCDS5435.2	7																																																																																			-	NULL		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	protein_coding	OTTHUMT00000318975.1	GAATGCACT	NM_194300			31683198	1	no_errors	ENST00000451887	ensembl	human	known	74_37	in_frame_del	DEL	0.004:0.017:0.011:0.008:0.001:0.000:0.018:0.029:0.025	-	-	31683198	GAATGCACT	-	31683190	7	5	223	1	0	1	0	1	0	0	0	0	2766	943	33	0	2244	0	CCDC129	7	31683190	In_Frame_Del	DEL	GAATGCACT	TCGA-WK-A8XS-01A-11D-A37C-09	10212853	31683190	127455473	14	18002											
BAZ1B	9031	genome.wustl.edu	37	chr7	72856562	72856562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccctggactgtccaacGgcctctggctcactgtcccc	9	19	2	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:72856562G>T	ENST00000339594.4	-	19	4754	c.4416C>A	c.(4414-4416)gcC>gcA	p.A1472A	BAZ1B_ENST00000404251.1_Silent_p.A1472A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1472					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTGTCCAACGGCCTCTGGCT	0.587																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0								ENSG00000009954						166	167	166					7																	72856562		2203	4300	6503	BAZ1B	SO:0001819	synonymous_variant	0			-	HGNC	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4416C>A	7.37:g.72856562G>T		Somatic	0	36	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	14.71	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP							pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A1472	ENST00000339594.4	37	c.4416	CCDS5549.1	7																																																																																			-	NULL		0.587	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	protein_coding	OTTHUMT00000252123.4	G	NM_032408	-		72856562	-1	no_errors	ENST00000339594	ensembl	human	known	74_37	silent	SNP	0.001	T	T	72856562	G	T	72856562	2	4	223	1	0	0	0	0	0	0	0	1	1330	1103	39	3		3	BAZ1B	7	72856562	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	41173372	72856562	86282101	15	18003											
PUS7	54517	genome.wustl.edu	37	chr7	105142968	105142968	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaacagagatttgataGcctgatggatgatggttctt	12	5	1	4			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:105142968G>C	ENST00000356362.2	-	5	843	c.629C>G	c.(628-630)gCt>gGt	p.A210G	PUS7_ENST00000469408.1_Missense_Mutation_p.A210G	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	210					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGATTTGATAGCCTGATGGAT	0.398																																					Colon(138;2387 3051 17860)												0								ENSG00000091127						206	180	189					7																	105142968		2203	4300	6503	PUS7	SO:0001583	missense	0			-	HGNC	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.629C>G	7.37:g.105142968G>C	ENSP00000348722:p.Ala210Gly	Somatic	0	80	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	Q75MG4|Q9NX19	Missense_Mutation	SNP							pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.A210G	ENST00000356362.2	37	c.629	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098686	0.76870	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.49720	0.77;0.77	5.84	5.84	0.93424	Pseudouridine synthase, catalytic domain (1);	0.051008	0.85682	D	0.000000	T	0.47322	0.1439	L	0.59436	1.845	0.80722	D	1	B;B	0.27068	0.086;0.167	B;B	0.23716	0.028;0.048	T	0.32745	-0.9895	10	0.26408	T	0.33	-19.0505	19.1228	0.93371	0.0:0.0:1.0:0.0	.	210;210	B3KY42;Q96PZ0	.;PUS7_HUMAN	G	210	ENSP00000348722:A210G;ENSP00000417402:A210G	ENSP00000348722:A210G	A	-	2	0	PUS7	104930204	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.634000	0.83273	2.765000	0.95021	0.655000	0.94253	GCT	-	superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk		0.398	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	protein_coding	OTTHUMT00000348681.1	G	NM_019042	-		105142968	-1	no_errors	ENST00000356362	ensembl	human	known	74_37	missense	SNP	1.000	C	C	105142968	G	C	105142968	3	2	223	1	0	0	0	0	1	0	0	0	12841	971	34	4	1404	4	PUS7	7	105142968	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	32286406	105142968	53995695	16	18004											
SLC26A3	1811	genome.wustl.edu	37	chr7	107420137	107420137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatatttgtcctttcgccaCaatctgcctatttcagcaaa	4	12	3	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:107420137C>T	ENST00000340010.5	-	12	1567	c.1383G>A	c.(1381-1383)ttG>ttA	p.L461L	SLC26A3_ENST00000422236.2_Silent_p.L426L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	461					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						CCTTTCGCCACAATCTGCCTA	0.368																																																	0								ENSG00000091138						150	127	135					7																	107420137		2203	4300	6503	SLC26A3	SO:0001819	synonymous_variant	0			-	HGNC	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.1383G>A	7.37:g.107420137C>T		Somatic	0	24	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L461	ENST00000340010.5	37	c.1383	CCDS5748.1	7																																																																																			-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.368	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	protein_coding	OTTHUMT00000337190.1	C	NM_000111	-		107420137	-1	no_errors	ENST00000340010	ensembl	human	known	74_37	silent	SNP	0.998	T	T	107420137	C	T	107420137	2	4	223	1	0	0	0	0	0	0	0	1	14526	477	17	2		2	SLC26A3	7	107420137	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	2277169	107420137	51718526	17	18005											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518500	113518500	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgataattcttgaacctgccTaagatctctgttttctgaaa	6	8	3	4			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:113518500T>A	ENST00000284601.3	-	4	2715	c.2647A>T	c.(2647-2649)Agg>Tgg	p.R883W		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	883			R -> S (in dbSNP:rs1800000). {ECO:0000269|PubMed:9726244}.		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						TGAACCTGCCTAAGATCTCTG	0.368																																																	0								ENSG00000154415						92	89	90					7																	113518500		2203	4299	6502	PPP1R3A	SO:0001583	missense	0			-	HGNC	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.2647A>T	7.37:g.113518500T>A	ENSP00000284601:p.Arg883Trp	Somatic	0	27	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP							pfam_CBM_21,pfscan_CBM_21	p.R883W	ENST00000284601.3	37	c.2647	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	3.991	-0.004434	0.07773	.	.	ENSG00000154415	ENST00000284601	T	0.16196	2.36	5.81	2.95	0.34219	.	0.934583	0.09032	N	0.858650	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	P	0.37525	0.598	B	0.36289	0.221	T	0.27123	-1.0083	10	0.62326	D	0.03	1.4488	8.75	0.34609	0.0:0.713:0.0:0.2869	.	883	Q16821	PPR3A_HUMAN	W	883	ENSP00000284601:R883W	ENSP00000284601:R883W	R	-	1	2	PPP1R3A	113305736	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.801000	0.27055	0.788000	0.33755	-0.182000	0.12963	AGG	-	NULL		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	T	NM_002711	-		113518500	-1	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	SNP	0.000	A	A	113518500	T	A	113518500	3	1	223	1	0	0	0	0	1	0	0	0	12376	1521	53	5	725	5	PPP1R3A	7	113518500	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09	6098363	113518500	45620163	18	18006											
AGK	55750	genome.wustl.edu	37	chr7	141315307	141315307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccattggatttatcccaCtgggagagaccagtagtttg	10	9	0	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:141315307C>T	ENST00000355413.4	+	8	720	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	AGK_ENST00000473247.1_Silent_p.L126L|AGK_ENST00000535825.1_Silent_p.L151L	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	154	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					ATTTATCCCACTGGGAGAGAC	0.443																																																	0								ENSG00000006530						180	183	182					7																	141315307		2203	4300	6503	AGK	SO:0001819	synonymous_variant	0			-	HGNC	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.460C>T	7.37:g.141315307C>T		Somatic	0	76	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	36	45.45	Q75KN1|Q96GC3|Q9NP48	Silent	SNP							pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.L154	ENST00000355413.4	37	c.460	CCDS5865.1	7																																																																																			-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	protein_coding	OTTHUMT00000348969.1	C	NM_018238	-		141315307	1	no_errors	ENST00000355413	ensembl	human	known	74_37	silent	SNP	1.000	T	T	141315307	C	T	141315307	2	4	223	1	0	0	0	0	0	0	0	1	383	564	20	2		2	AGK	7	141315307	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	27796807	141315307	17823356	19	18007											
CUL1	8454	genome.wustl.edu	37	chr7	148494904	148494904	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctttttctctttaattgcagGacattttggcgcaagtttta	7	7	1	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:148494904G>C	ENST00000325222.4	+	18	2179	c.1900G>C	c.(1900-1902)Gac>Cac	p.D634H	CUL1_ENST00000602748.1_Splice_Site_p.D634H|CUL1_ENST00000409469.1_Splice_Site_p.D634H	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	634					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)			TTAATTGCAGGACATTTTGGC	0.358																																																	0								ENSG00000055130						96	96	96					7																	148494904		2203	4300	6503	CUL1	SO:0001630	splice_region_variant	0			-	HGNC	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.1900-1G>C	7.37:g.148494904G>C		Somatic	0	59	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	32	54.29	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP							pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.D634H	ENST00000325222.4	37	c.1900	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	.	15.39	2.820799	0.50633	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75821	-0.97;-0.97	4.89	4.89	0.63831	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.048371	0.85682	D	0.000000	T	0.73133	0.3548	M	0.66506	2.035	0.80722	D	1	B;B	0.30406	0.113;0.278	B;B	0.30855	0.046;0.121	T	0.71537	-0.4563	9	.	.	.	-34.6695	17.0586	0.86541	0.0:0.0:1.0:0.0	.	561;634	E7EWR0;Q13616	.;CUL1_HUMAN	H	634;634;592;561	ENSP00000387160:D634H;ENSP00000326804:D634H	.	D	+	1	0	CUL1	148125837	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	9.430000	0.97488	2.263000	0.75096	0.313000	0.20887	GAC	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	protein_coding	OTTHUMT00000467785.1	G	NM_003592	-	Missense_Mutation	148494904	1	no_errors	ENST00000325222	ensembl	human	known	74_37	missense	SNP	1.000	C	C	148494904	G	C	148494904	5	2	223	1	0	0	0	0	0	0	1	0	4056	1188	41	4	1966	4	CUL1	7	148494904	Splice_Site	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	7179597	148494904	10643759	20	18008											
MLL3	58508	genome.wustl.edu	37	chr7	151962257	151962257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgatctaagaggtctccCgggctgtcgcacactgcaca	10	13	2	2	rs62478357		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr7:151962257C>T	ENST00000262189.6	-	8	1268	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	KMT2C_ENST00000355193.2_Silent_p.P350P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	350					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)										AGAGGTCTCCCGGGCTGTCGC	0.398																																																	0								ENSG00000055609						146	134	138					7																	151962257		2203	4296	6499	KMT2C	SO:0001819	synonymous_variant	0			-	HGNC	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.1050G>A	7.37:g.151962257C>T		Somatic	0	63	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	78	9.30	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P350	ENST00000262189.6	37	c.1050	CCDS5931.1	7																																																																																			-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	C		rs62478357		151962257	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	SNP	1.000	T	T	151962257	C	T	151962257	2	4	223	1	0	0	0	0	0	0	0	1	9624	639	23	1		1	MLL3	7	151962257	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	3467353	151962257	7176406	21	18009											
FGFR1	2260	genome.wustl.edu	37	chr8	38283652	38283652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttacccacgacatccaGctggtatgtgtggttgatgc	10	12	1	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr8:38283652G>A	ENST00000447712.2	-	6	1674	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	FGFR1_ENST00000341462.5_Silent_p.L246L|FGFR1_ENST00000356207.5_Silent_p.L156L|FGFR1_ENST00000326324.6_Silent_p.L154L|FGFR1_ENST00000397113.2_Silent_p.L243L|FGFR1_ENST00000397091.5_Silent_p.L243L|FGFR1_ENST00000532791.1_Silent_p.L245L|FGFR1_ENST00000335922.5_Silent_p.L237L|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397108.4_Silent_p.L243L|FGFR1_ENST00000425967.3_Silent_p.L276L|FGFR1_ENST00000397103.1_Silent_p.L154L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	245	Ig-like C2-type 2.		L -> P (in HH2). {ECO:0000269|PubMed:16882753}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACGACATCCAGCTGGTATGTG	0.547		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"				OREG0018722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0								ENSG00000077782						187	182	184					8																	38283652		2049	4218	6267	FGFR1	SO:0001819	synonymous_variant	0			-	HGNC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.733C>T	8.37:g.38283652G>A		Somatic	0	26	0	877	0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L276	ENST00000447712.2	37	c.826	CCDS6107.2	8																																																																																			-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.547	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	protein_coding		G		-		38283652	-1	no_errors	ENST00000425967	ensembl	human	known	74_37	silent	SNP	1.000	A	A	38283652	G	A	38283652	2	1	223	1	0	0	0	0	0	0	0	1	5865	962	34	2		2	FGFR1	8	38283652	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09		38283652	108080370	22	18010											
CA2	760	genome.wustl.edu	37	chr8	86386014	86386014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggttcagagcatactGtggataaaaagaaatatgct	10	5	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr8:86386014G>T	ENST00000285379.5	+	3	555	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	109					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AGAGCATACTGTGGATAAAAA	0.353																																																	0								ENSG00000104267						91	96	94					8																	86386014		2203	4300	6503	CA2	SO:0001583	missense	0			-	HGNC	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.325G>T	8.37:g.86386014G>T	ENSP00000285379:p.Val109Leu	Somatic	0	28	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP							pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V109L	ENST00000285379.5	37	c.325	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821997	0.50739	.	.	ENSG00000104267	ENST00000285379	T	0.72725	-0.68	5.56	3.57	0.40892	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.294542	0.37219	N	0.002199	T	0.65481	0.2695	L	0.58669	1.825	0.51233	D	0.999919	B	0.13145	0.007	B	0.15870	0.014	T	0.66320	-0.5953	10	0.72032	D	0.01	1.1646	11.0576	0.47927	0.0751:0.0:0.7874:0.1375	.	109	P00918	CAH2_HUMAN	L	109	ENSP00000285379:V109L	ENSP00000285379:V109L	V	+	1	0	CA2	86573266	0.996000	0.38824	0.981000	0.43875	0.743000	0.42351	2.270000	0.43355	1.350000	0.45770	0.555000	0.69702	GTG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.353	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	protein_coding	OTTHUMT00000381097.2	G	NM_000067	-		86386014	1	no_errors	ENST00000285379	ensembl	human	known	74_37	missense	SNP	0.997	T	T	86386014	G	T	86386014	3	4	223	1	0	0	0	0	1	0	0	0	2518	1377	48	3	335	3	CA2	8	86386014	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	48102362	86386014	59978008	23	18011											
CNGB3	54714	genome.wustl.edu	37	chr8	87679208	87679208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggataaatagcatatcaTaaaggtagatgatatcacat	8	5	2	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr8:87679208T>C	ENST00000320005.5	-	6	844	c.797A>G	c.(796-798)tAt>tGt	p.Y266C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	266					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TAGCATATCATAAAGGTAGAT	0.423																																																	0								ENSG00000170289						111	101	104					8																	87679208		2203	4300	6503	CNGB3	SO:0001583	missense	0			-	HGNC	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.797A>G	8.37:g.87679208T>C	ENSP00000316605:p.Tyr266Cys	Somatic	0	32	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	14	54.84	C9JA51|Q9NRE9	Missense_Mutation	SNP							pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Y266C	ENST00000320005.5	37	c.797	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	0.439	-0.899597	0.02472	.	.	ENSG00000170289	ENST00000320005	D	0.97378	-4.36	5.55	1.63	0.23807	.	0.621291	0.16792	N	0.199358	D	0.83774	0.5327	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77752	-0.2470	10	0.27082	T	0.32	.	2.4143	0.04432	0.2804:0.4527:0.1227:0.1443	.	266;266	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	C	266	ENSP00000316605:Y266C	ENSP00000316605:Y266C	Y	-	2	0	CNGB3	87748324	0.011000	0.17503	0.611000	0.29010	0.134000	0.20937	1.810000	0.38932	0.012000	0.14892	-0.242000	0.12053	TAT	-	NULL		0.423	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	protein_coding	OTTHUMT00000375107.1	T	NM_019098	-		87679208	-1	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	SNP	0.003	C	C	87679208	T	C	87679208	3	2	223	1	0	0	0	0	1	0	0	0	3603	1406	49	5	1684	5	CNGB3	8	87679208	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09	1293194	87679208	58684814	24	18012											
HRCT1	646962	genome.wustl.edu	37	chr9	35906627	35906627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccatccccgccacgctCgctgaggctgctgtcgccgg	12	19	0	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:35906627C>T	ENST00000354323.2	+	1	439	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	115						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ccgccacGCTCGCTGAGGCTG	0.672																																																	0								ENSG00000196196						7	9	8					9																	35906627		1558	3078	4636	HRCT1	SO:0001583	missense	0			-	HGNC		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.343C>T	9.37:g.35906627C>T	ENSP00000346283:p.Arg115Cys	Somatic	0	35	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B7ZBJ1	Missense_Mutation	SNP							NULL	p.R115C	ENST00000354323.2	37	c.343	CCDS35012.1	9	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828175	0.16749	.	.	ENSG00000196196	ENST00000354323	.	.	.	3.29	2.39	0.29439	.	.	.	.	.	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	B	0.43783	0.431	T	0.07790	-1.0754	8	0.87932	D	0	-17.2079	6.7921	0.23705	0.0:0.8711:0.0:0.1289	.	115	Q6UXD1	HRCT1_HUMAN	C	115	.	ENSP00000346283:R115C	R	+	1	0	HRCT1	35896627	0.005000	0.15991	0.006000	0.13384	0.215000	0.24574	1.885000	0.39678	0.994000	0.38892	-0.217000	0.12591	CGC	-	NULL		0.672	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	protein_coding	OTTHUMT00000334099.1	C	NM_001039792	-		35906627	1	no_errors	ENST00000354323	ensembl	human	known	74_37	missense	SNP	0.006	T	T	35906627	C	T	35906627	3	4	223	1	0	0	0	0	1	0	0	0	7355	884	31	1	345	1	HRCT1	9	35906627	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		35906627	105306804	25	18013											
TRPM3	80036	genome.wustl.edu	37	chr9	73151413	73151413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcataatagctccttgagGgggaaaacataaagctatga	11	6	0	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:73151413G>T	ENST00000377110.3	-	25	4823	c.4580C>A	c.(4579-4581)cCc>cAc	p.P1527H	TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.P1389H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1376H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1386H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P1531H|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1386H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1554H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1389H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P1399H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1386H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1399H			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1552					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						GCTCCTTGAGGGGGAAAACAT	0.453																																																	0								ENSG00000083067						92	99	97					9																	73151413		2203	4300	6503	TRPM3	SO:0001583	missense	0			-	HGNC	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	ENST00000377110.3:c.4580C>A	9.37:g.73151413G>T	ENSP00000366314:p.Pro1527His	Somatic	0	31	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.P1554H	ENST00000377110.3	37	c.4661	CCDS43835.1	9	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016036	0.54468	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.58060	0.46;0.38;0.38;0.36;0.46;0.36;0.37;0.38;0.38;0.45	5.71	5.71	0.89125	.	0.119371	0.64402	D	0.000014	T	0.58293	0.2112	N	0.24115	0.695	0.50171	D	0.999859	D;B;D;D;D;D;D	0.65815	0.995;0.017;0.992;0.992;0.995;0.995;0.992	P;B;P;P;P;P;P	0.58873	0.847;0.022;0.62;0.707;0.789;0.789;0.62	T	0.58808	-0.7571	10	0.48119	T	0.1	-14.2391	19.8683	0.96840	0.0:0.0:1.0:0.0	.	1527;1517;1531;1389;1386;1499;1386	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	H	1527;1399;1389;1386;1531;1386;1386;1399;1389;1554	ENSP00000366314:P1527H;ENSP00000366310:P1399H;ENSP00000354066:P1389H;ENSP00000366309:P1386H;ENSP00000350140:P1531H;ENSP00000386127:P1386H;ENSP00000379581:P1386H;ENSP00000379587:P1399H;ENSP00000350791:P1389H;ENSP00000389542:P1554H	ENSP00000350140:P1531H	P	-	2	0	TRPM3	72341233	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	9.204000	0.95041	2.702000	0.92279	0.655000	0.94253	CCC	-	NULL		0.453	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	protein_coding	OTTHUMT00000214158.3	G	NM_206945	-		73151413	-1	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73151413	G	T	73151413	3	4	223	1	0	0	0	0	1	0	0	0	16594	1232	43	3	547	3	TRPM3	9	73151413	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	37244786	73151413	68062018	26	18014											
LPPR1	54886	genome.wustl.edu	37	chr9	104086318	104086318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacagaatcactctgcGtccatgaccgaagttacctg	8	14	2	2	rs371737348		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:104086318G>A	ENST00000374874.3	+	8	1396	c.957G>A	c.(955-957)gcG>gcA	p.A319A	SNORA31_ENST00000517232.1_RNA|LPPR1_ENST00000395056.2_Silent_p.A319A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		319					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ATCACTCTGCGTCCATGACCG	0.413																																																	0								ENSG00000148123	G	,	1,4405	2.1+/-5.4	0,1,2202	163	126	138		957,957	3.3	1	9		138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPPR1	NM_017753.2,NM_207299.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	319/326,319/326	104086318	1,13005	2203	4300	6503	LPPR1	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000374874.3:c.957G>A	9.37:g.104086318G>A		Somatic	0	32	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	45	18.18	Q5VX23|Q9NXE2	Silent	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A319	ENST00000374874.3	37	c.957	CCDS6751.1	9																																																																																			-	NULL		0.413	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR1	protein_coding	OTTHUMT00000053425.1	G		-		104086318	1	no_errors	ENST00000374874	ensembl	human	known	74_37	silent	SNP	1.000	A	A	104086318	G	A	104086318	2	1	223	1	0	0	0	0	0	0	0	1	8926	1132	40	1		1	LPPR1	9	104086318	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	30934905	104086318	37127113	27	18015											
MEGF9	1955	genome.wustl.edu	37	chr9	123476543	123476548	+	In_Frame_Del	DEL	CGGCGG	CGGCGG	-													cgccgaggcggctgaggcgaCggcggcggcggcggcggcgg					rs200946879|rs369989873	byFrequency	TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	CGGCGG	CGGCGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:123476543_123476548delCGGCGG	ENST00000373930.3	-	1	200_205	c.89_94delCCGCCG	c.(88-96)gccgccgtc>gtc	p.AA30del	MEGF9_ENST00000426959.1_In_Frame_Del_p.AA22del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	30	Ala-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						gctgaggcgacggcggcggcggcggc	0.782														3349	0.66873	0.6044	0.7637	5008	,	,		7106	0.5853		0.7058	False		,,,				2504	0.7362																0								ENSG00000106780			26,6		13,0,3						2.8	0.2		dbSNP_119	1	80,32		39,2,15	no	coding	MEGF9	NM_001080497.2		52,2,18	A1A1,A1R,RR		28.5714,18.75,26.3889				106,38				MEGF9	SO:0001651	inframe_deletion	0				HGNC	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.89_94delCCGCCG	9.37:g.123476549_123476554delCGGCGG	ENSP00000363040:p.Ala30_Ala31del	Somatic					0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z315|O75098	In_Frame_Del	DEL							pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.AA22in_frame_del	ENST00000373930.3	37	c.70_65	CCDS48010.2	9																																																																																			-	NULL		0.782	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	protein_coding	OTTHUMT00000055513.1	CGGCGG	NM_001080497			123476548	-1	no_errors	ENST00000426959	ensembl	human	known	74_37	in_frame_del	DEL	0.255:0.243:0.247:0.263:0.993:0.998	-	-	123476548	CGGCGG	-	123476543	7	5	223	1	0	1	0	1	0	0	0	0	9466	536	19	0	1881	0	MEGF9	9	123476543	In_Frame_Del	DEL	CGGCGG	TCGA-WK-A8XS-01A-11D-A37C-09	19390225	123476543	17736888	28	18016											
NUP188	23511	genome.wustl.edu	37	chr9	131744924	131744924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaatactcctatagcaGctggaccctctttacctgcg	9	13	1	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:131744924G>A	ENST00000372577.2	+	16	1634	c.1613G>A	c.(1612-1614)aGc>aAc	p.S538N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	538					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)|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 pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCTATAGCAGCTGGACCCTC	0.488																																																	0								ENSG00000095319						139	111	120					9																	131744924		2203	4300	6503	NUP188	SO:0001583	missense	0			-	HGNC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1613G>A	9.37:g.131744924G>A	ENSP00000361658:p.Ser538Asn	Somatic	0	19	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	22	56.00	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP							pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.S538N	ENST00000372577.2	37	c.1613	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585803	0.66105	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.31769	1.48	5.71	5.71	0.89125	.	0.171001	0.64402	D	0.000005	T	0.37293	0.0998	N	0.19112	0.55	0.49798	D	0.999825	D	0.58268	0.982	P	0.56865	0.808	T	0.08066	-1.0740	10	0.41790	T	0.15	-8.1849	18.8346	0.92157	0.0:0.0:1.0:0.0	.	538	Q5SRE5	NU188_HUMAN	N	427;538	ENSP00000361658:S538N	ENSP00000349125:S427N	S	+	2	0	NUP188	130784745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.695000	0.74593	2.710000	0.92621	0.491000	0.48974	AGC	-	pfam_Nucleoporin_Nup188		0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	protein_coding	OTTHUMT00000054529.2	G		-		131744924	1	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	SNP	1.000	A	A	131744924	G	A	131744924	3	1	223	1	0	0	0	0	1	0	0	0	10760	971	34	2	1675	2	NUP188	9	131744924	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	8268381	131744924	9468507	29	18017											
PPAPDC3	84814	genome.wustl.edu	37	chr9	134183431	134183431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctacgccttcccggcCgggcacgccagccgcgccgc	12	20	1	0	rs371238589		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:134183431C>T	ENST00000372264.3	+	2	877	c.573C>T	c.(571-573)gcC>gcT	p.A191A		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	191					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCTTCCCGGCCGGGCACGCCA	0.697																																																	0								ENSG00000160539	C		3,4401	6.2+/-15.9	0,3,2199	55	49	51		573	-2.4	1	9		51	0,8596		0,0,4298	no	coding-synonymous	PPAPDC3	NM_032728.3		0,3,6497	TT,TC,CC		0.0,0.0681,0.0231		191/272	134183431	3,12997	2202	4298	6500	PPAPDC3	SO:0001819	synonymous_variant	0			-	HGNC	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.573C>T	9.37:g.134183431C>T		Somatic	0	63	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	63	22.22	Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A191	ENST00000372264.3	37	c.573	CCDS6942.1	9																																																																																			-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.697	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC3	protein_coding	OTTHUMT00000054724.1	C	NM_032728	-		134183431	1	no_errors	ENST00000372264	ensembl	human	known	74_37	silent	SNP	0.977	T	T	134183431	C	T	134183431	2	4	223	1	0	0	0	0	0	0	0	1	12298	639	23	1		1	PPAPDC3	9	134183431	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	2438507	134183431	7030000	30	18018											
CEL	1056	genome.wustl.edu	37	chr9	135945988	135945988	+	Missense_Mutation	SNP	A	A	G													ccccacgggctaccggccccAagacaggacagtctctaagg					rs201074543	byFrequency	TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:135945988A>G	ENST00000372080.4	+	10	1452	c.1436A>G	c.(1435-1437)cAa>cGa	p.Q479R	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	476					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TACCGGCCCCAAGACAGGACA	0.607													A|||	4	0.000798722	0	0.0058	5008	,	,		19512	0		0	False		,,,				2504	0																0								ENSG00000170835						83	94	91					9																	135945988		1992	4156	6148	CEL	SO:0001583	missense	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1436A>G	9.37:g.135945988A>G	ENSP00000361151:p.Gln479Arg	Somatic	0	48	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.Q479R	ENST00000372080.4	37	c.1436	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253212	0.22965	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.66099	-0.19	5.69	4.52	0.55395	Carboxylesterase, type B (1);	0.353337	0.32785	N	0.005644	T	0.35364	0.0929	N	0.02315	-0.6	0.80722	D	1	B	0.23540	0.087	B	0.20184	0.028	T	0.13710	-1.0499	10	0.35671	T	0.21	.	11.3338	0.49492	0.8638:0.0:0.0:0.1362	.	476	P19835	CEL_HUMAN	R	479;478	ENSP00000361151:Q479R	ENSP00000304021:Q478R	Q	+	2	0	CEL	134935809	0.976000	0.34144	0.074000	0.20217	0.366000	0.29705	4.432000	0.59922	0.945000	0.37605	0.386000	0.25728	CAA	-	pfam_CarbesteraseB		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	A		rs201074543		135945988	1	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	SNP	0.831	G	G	135945988	A	G	135945988	3	3	223	1	0	0	0	0	1	0	0	0	3211	130	5	5	1474	5	CEL	9	135945988	Missense_Mutation	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	1762557	135945988	5267443	31	18019	488	2									
CEL	1056	genome.wustl.edu	37	chr9	135945997	135945997	+	Missense_Mutation	SNP	C	C	T													ctaccggccccaagacaggaCagtctctaaggccatgatcg					rs201677850	byFrequency	TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr9:135945997C>T	ENST00000372080.4	+	10	1461	c.1445C>T	c.(1444-1446)aCa>aTa	p.T482I	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	479					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGACAGGACAGTCTCTAAG	0.607																																																	0								ENSG00000170835						83	95	91					9																	135945997		2003	4163	6166	CEL	SO:0001583	missense	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1445C>T	9.37:g.135945997C>T	ENSP00000361151:p.Thr482Ile	Somatic	0	42	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T482I	ENST00000372080.4	37	c.1445	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395574	0.62177	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.67171	-0.25	5.69	5.69	0.88448	Carboxylesterase, type B (1);	0.296062	0.38058	N	0.001840	T	0.57344	0.2047	N	0.13327	0.33	0.80722	D	1	D	0.54397	0.966	P	0.50352	0.638	T	0.55386	-0.8149	10	0.26408	T	0.33	.	13.7707	0.63023	0.1534:0.8466:0.0:0.0	.	479	P19835	CEL_HUMAN	I	482;481	ENSP00000361151:T482I	ENSP00000304021:T481I	T	+	2	0	CEL	134935818	0.940000	0.31905	0.109000	0.21407	0.603000	0.37013	2.046000	0.41260	2.698000	0.92095	0.472000	0.43445	ACA	-	pfam_CarbesteraseB		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	C		rs201677850		135945997	1	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	SNP	0.994	T	T	135945997	C	T	135945997	3	4	223	1	0	0	0	0	1	0	0	0	3211	478	17	2	1483	2	CEL	9	135945997	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	9	135945997	5267434	32	18020	488	2									
C10orf113	387638	genome.wustl.edu	37	chr10	21414843	21414843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcttccctttggttataCcttctggtcccagagacagc	8	13	1	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr10:21414843C>T	ENST00000534331.1	-	2	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.G116D|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	126										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTTGGTTATACCTTCTGGTCC	0.463																																																	0								ENSG00000204683						99	98	98					10																	21414843		2203	4300	6503	C10orf113	SO:0001583	missense	0			-	HGNC		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.377G>A	10.37:g.21414843C>T	ENSP00000433646:p.Gly126Asp	Somatic	0	42	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	4	83.33	B9EIM9|E9PRX7	Missense_Mutation	SNP							NULL	p.G126D	ENST00000534331.1	37	c.377	CCDS31162.2	10	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465854	0.43839	.	.	ENSG00000204683	ENST00000534331;ENST00000377118	T;T	0.45668	0.89;0.89	4.81	3.91	0.45181	.	.	.	.	.	T	0.26122	0.0637	N	0.08118	0	0.26429	N	0.975973	P	0.46706	0.883	B	0.43413	0.419	T	0.05920	-1.0856	9	0.87932	D	0	-2.0903	8.7064	0.34356	0.0:0.8969:0.0:0.1031	.	126	Q5VZT2	CJ113_HUMAN	D	126;116	ENSP00000433646:G126D;ENSP00000366322:G116D	ENSP00000366322:G116D	G	-	2	0	C10orf113	21454849	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	1.994000	0.40757	1.243000	0.43853	0.460000	0.39030	GGT	-	NULL		0.463	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf113	protein_coding	OTTHUMT00000047108.3	C	NM_001010896	-		21414843	-1	no_errors	ENST00000534331	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21414843	C	T	21414843	3	4	223	1	0	0	0	0	1	0	0	0	1586	507	18	2	94	2	C10orf113	10	21414843	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		21414843	114119904	33	18021											
OGDHL	55753	genome.wustl.edu	37	chr10	50947867	50947867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcattggggctggccatgGcatagcccagctcaaagcct	14	12	1	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr10:50947867G>A	ENST00000374103.4	-	17	2244	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V	OGDHL_ENST00000490844.1_5'Flank|OGDHL_ENST00000432695.1_Missense_Mutation_p.A511V|OGDHL_ENST00000419399.1_Missense_Mutation_p.A663V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	720					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						GCTGGCCATGGCATAGCCCAG	0.552																																																	0								ENSG00000197444						64	58	60					10																	50947867		2203	4300	6503	OGDHL	SO:0001583	missense	0			-	HGNC	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.2159C>T	10.37:g.50947867G>A	ENSP00000363216:p.Ala720Val	Somatic	0	41	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP							pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A720V	ENST00000374103.4	37	c.2159	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.062219	0.93846	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.97186	-4.28;-4.28;-4.28	4.61	4.61	0.57282	Transketolase-like, pyrimidine-binding domain (2);	0.057465	0.64402	D	0.000002	D	0.98216	0.9410	M	0.86420	2.815	0.80722	D	1	P;B;P	0.38250	0.57;0.427;0.624	P;B;P	0.51701	0.549;0.197;0.677	D	0.99902	1.1164	10	0.87932	D	0	.	17.4702	0.87643	0.0:0.0:1.0:0.0	.	663;511;720	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	V	720;663;511	ENSP00000363216:A720V;ENSP00000401356:A663V;ENSP00000390240:A511V	ENSP00000363216:A720V	A	-	2	0	OGDHL	50617873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.859000	0.99545	2.127000	0.65507	0.446000	0.29264	GCC	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.552	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	G	NM_018245	-		50947867	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50947867	G	A	50947867	3	1	223	1	0	0	0	0	1	0	0	0	10842	1203	42	2	901	2	OGDHL	10	50947867	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	29533024	50947867	84586880	34	18022											
PCDH15	65217	genome.wustl.edu	37	chr10	55591267	55591267	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acggctgaaagtctttattgAtatcaagtagtttgccatcc	8	8	2	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr10:55591267A>T	ENST00000320301.6	-	30	4404	c.4010T>A	c.(4009-4011)aTc>aAc	p.I1337N	PCDH15_ENST00000361849.3_Missense_Mutation_p.I1337N|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1315N|PCDH15_ENST00000373965.2_Missense_Mutation_p.I1344N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1337N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1266N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1300N|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1337N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.I948N|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1344N|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1342N|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1337					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)				GTCTTTATTGATATCAAGTAG	0.353										HNSCC(58;0.16)																																							0								ENSG00000150275						78	75	76					10																	55591267		2203	4300	6503	PCDH15	SO:0001583	missense	0			-	HGNC	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.4010T>A	10.37:g.55591267A>T	ENSP00000322604:p.Ile1337Asn	Somatic	0	42	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I1337N	ENST00000320301.6	37	c.4010	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574736	0.86542	.	.	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	0.61510	0.27;0.32;0.24;0.26;0.22;0.13;0.11;0.16;0.11;0.1;0.1	5.76	5.76	0.90799	.	.	.	.	.	T	0.68430	0.3000	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.999;1.0;0.998;0.997;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.997;0.984;0.984;0.969;0.984;0.984;0.997;0.961;0.979;0.979;0.979;0.979;0.984	T	0.71626	-0.4536	9	0.87932	D	0	.	15.732	0.77814	1.0:0.0:0.0:0.0	.	1315;1337;1337;1342;1266;1300;1337;1337;1344;1344;1337;1342;1337	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1344;1342;1337;1337;948;1344;1300;1337;1315;1337;1337;1342;1266	ENSP00000363076:I1344N;ENSP00000410304:I1342N;ENSP00000378826:I1337N;ENSP00000386693:I948N;ENSP00000378832:I1344N;ENSP00000378820:I1300N;ENSP00000354950:I1337N;ENSP00000378821:I1315N;ENSP00000322604:I1337N;ENSP00000378818:I1337N;ENSP00000412628:I1266N	ENSP00000322604:I1337N	I	-	2	0	PCDH15	55261273	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.335000	0.96500	2.191000	0.70037	0.482000	0.46254	ATC	-	NULL		0.353	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	A	NM_033056	-		55591267	-1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55591267	A	T	55591267	3	4	223	1	0	0	0	0	1	0	0	0	11513	333	12	5	3492	5	PCDH15	10	55591267	Missense_Mutation	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	4643400	55591267	79943480	35	18023											
PTEN	5728	genome.wustl.edu	37	chr10	89720855	89720859	+	Frame_Shift_Del	DEL	TACTT	TACTT	-													ataaagacaaagccaaccgaTacttttctccaaattttaag							TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	TACTT	TACTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr10:89720855_89720859delTACTT	ENST00000371953.3	+	8	2363_2367	c.1006_1010delTACTT	c.(1006-1011)tactttfs	p.YF336fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	336	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.Y336*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F337fs*7(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.F337fs*6(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.Y336F(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCAACCGATACTTTTCTCCAAAT	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	63	Whole gene deletion(37)|Deletion - Frameshift(14)|Substitution - Nonsense(5)|Deletion - In frame(3)|Unknown(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	central_nervous_system(17)|prostate(17)|endometrium(6)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)	GRCh37	CI983205|CM074470	PTEN	I|M		ENSG00000171862																																			PTEN	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.		HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1006_1010delTACTT	10.37:g.89720855_89720859delTACTT	ENSP00000361021:p.Tyr336fs	Somatic					0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y336fs	ENST00000371953.3	37	c.1006_1010	CCDS31238.1	10																																																																																			-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.337	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	TACTT	NM_000314			89720859	1	no_errors	ENST00000371953	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.996:1.000:1.000	-	-	89720859	TACTT	-	89720855	7	5	223	1	0	1	0	1	0	0	0	0	12743	1406	49	0	1036	0	PTEN	10	89720855	Frame_Shift_Del	DEL	TACTT	TCGA-WK-A8XS-01A-11D-A37C-09	34129588	89720855	45813892	36	18024											
C11orf49	79096	genome.wustl.edu	37	chr11	47183083	47183083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccagttgcctgccttcccGgacccctccccgggttggct	12	18	0	0	rs541095717		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr11:47183083G>T	ENST00000278460.7	+	9	949	c.890G>T	c.(889-891)cGg>cTg	p.R297L	C11orf49_ENST00000378615.3_Missense_Mutation_p.R303L|C11orf49_ENST00000543718.1_Missense_Mutation_p.R213L|C11orf49_ENST00000536126.1_Missense_Mutation_p.R200L|C11orf49_ENST00000395460.2_3'UTR|C11orf49_ENST00000378618.2_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	297						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTGCCTTCCCGGACCCCTCCC	0.622											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000149179						45	47	46					11																	47183083		2201	4299	6500	C11orf49	SO:0001583	missense	0			-	HGNC	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.890G>T	11.37:g.47183083G>T	ENSP00000278460:p.Arg297Leu	Somatic	0	41	0	944	0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP							NULL	p.R303L	ENST00000278460.7	37	c.908	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.371946	0.95923	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378615;ENST00000543718	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.63	5.63	0.86233	.	0.110104	0.64402	D	0.000008	T	0.52581	0.1743	M	0.68317	2.08	0.58432	D	0.99999	D;D;P;P	0.71674	0.998;0.998;0.932;0.932	D;D;P;P	0.80764	0.994;0.994;0.585;0.585	T	0.50759	-0.8790	10	0.72032	D	0.01	-4.9959	20.0471	0.97613	0.0:0.0:1.0:0.0	.	213;213;303;297	F5H6E0;B4DEG1;Q9H6J7-2;Q9H6J7	.;.;.;CK049_HUMAN	L	200;297;303;213	ENSP00000438207:R200L;ENSP00000278460:R297L;ENSP00000367878:R303L;ENSP00000437689:R213L	ENSP00000278460:R297L	R	+	2	0	C11orf49	47139659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.417000	0.73337	2.815000	0.96918	0.561000	0.74099	CGG	-	NULL		0.622	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	protein_coding	OTTHUMT00000391218.1	G	NM_024113	-		47183083	1	no_errors	ENST00000378615	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47183083	G	T	47183083	3	4	223	1	0	0	0	0	1	0	0	0	1647	1116	39	3	946	3	C11orf49	11	47183083	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09		47183083	87823433	37	18025											
OR4S1	256148	genome.wustl.edu	37	chr11	48328655	48328655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaacaacgatgtgaaaaAtgccatgaggaagctgttta	11	5	0	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr11:48328655A>G	ENST00000319988.1	+	1	881	c.881A>G	c.(880-882)aAt>aGt	p.N294S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	294						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(12)|ovary(1)|skin(3)	21						GATGTGAAAAATGCCATGAGG	0.443																																																	0								ENSG00000176555						76	71	72					11																	48328655		2201	4298	6499	OR4S1	SO:0001583	missense	0			-	HGNC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.881A>G	11.37:g.48328655A>G	ENSP00000321447:p.Asn294Ser	Somatic	0	15	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	6	72.73	Q6IFB4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N294S	ENST00000319988.1	37	c.881	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	A	9.373	1.071053	0.20147	.	.	ENSG00000176555	ENST00000319988	T	0.37584	1.19	5.02	-0.143	0.13444	.	.	.	.	.	T	0.19805	0.0476	N	0.26130	0.795	0.09310	N	1	B	0.19706	0.038	B	0.19946	0.027	T	0.27191	-1.0081	9	0.45353	T	0.12	.	0.1609	0.00103	0.3572:0.1584:0.1777:0.3067	.	294	Q8NGB4	OR4S1_HUMAN	S	294	ENSP00000321447:N294S	ENSP00000321447:N294S	N	+	2	0	OR4S1	48285231	0.000000	0.05858	0.997000	0.53966	0.424000	0.31475	-0.113000	0.10774	0.011000	0.14865	0.533000	0.62120	AAT	-	NULL		0.443	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	protein_coding	OTTHUMT00000390556.1	A	NM_001004725	-		48328655	1	no_errors	ENST00000319988	ensembl	human	known	74_37	missense	SNP	0.191	G	G	48328655	A	G	48328655	3	3	223	1	0	0	0	0	1	0	0	0	11084	101	4	5	883	5	OR4S1	11	48328655	Missense_Mutation	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	1145572	48328655	86677861	38	18026											
INPPL1	3636	genome.wustl.edu	37	chr11	71943350	71943350	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttggctttgtgaattgtcAcctcacctcgggaaatgaga	10	8	2	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr11:71943350A>T	ENST00000298229.2	+	14	1886	c.1682A>T	c.(1681-1683)cAc>cTc	p.H561L	INPPL1_ENST00000538751.1_Missense_Mutation_p.H319L|INPPL1_ENST00000541756.1_Missense_Mutation_p.H319L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	561					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTGAATTGTCACCTCACCTCG	0.557																																																	0								ENSG00000165458						88	75	79					11																	71943350		2177	4257	6434	INPPL1	SO:0001583	missense	0			-	HGNC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1682A>T	11.37:g.71943350A>T	ENSP00000298229:p.His561Leu	Somatic	0	31	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	3	86.36	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.H561L	ENST00000298229.2	37	c.1682	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	a	28.9	4.956624	0.92726	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.99042	-5.36;-5.36;-5.36	5.3	5.3	0.74995	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.057088	0.64402	D	0.000001	D	0.99566	0.9844	H	0.98525	4.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.97823	1.0258	10	0.87932	D	0	.	13.4861	0.61366	1.0:0.0:0.0:0.0	.	561	O15357	SHIP2_HUMAN	L	561;319;319	ENSP00000298229:H561L;ENSP00000446360:H319L;ENSP00000444619:H319L	ENSP00000298229:H561L	H	+	2	0	INPPL1	71620998	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	7.021000	0.76425	2.126000	0.65437	0.533000	0.62120	CAC	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.557	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	protein_coding	OTTHUMT00000396789.1	A	NM_001567	-		71943350	1	no_errors	ENST00000298229	ensembl	human	known	74_37	missense	SNP	1.000	T	T	71943350	A	T	71943350	3	4	223	1	0	0	0	0	1	0	0	0	7763	159	6	5	1736	5	INPPL1	11	71943350	Missense_Mutation	SNP	A	TCGA-WK-A8XS-01A-11D-A37C-09	23614695	71943350	63063166	39	18027											
NOX4	50507	genome.wustl.edu	37	chr11	89069056	89069056	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcaaacaaaagtttccaccGaggacgtcctataaacagtc	6	11	1	0	rs140266495		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr11:89069056G>T	ENST00000263317.4	-	17	1811	c.1573C>A	c.(1573-1575)Cgg>Agg	p.R525R	NOX4_ENST00000535633.1_Silent_p.R501R|NOX4_ENST00000531342.1_Silent_p.R178R|NOX4_ENST00000424319.1_Silent_p.R501R|NOX4_ENST00000527626.1_Silent_p.R338R|NOX4_ENST00000542487.1_Silent_p.R501R|NOX4_ENST00000375979.3_Silent_p.R218R|NOX4_ENST00000532825.1_Silent_p.R461R|NOX4_ENST00000525196.1_Silent_p.R289R|NOX4_ENST00000534731.1_Silent_p.R485R|NOX4_ENST00000528341.1_Silent_p.R500R|NOX4_ENST00000413594.2_Silent_p.R546R|NOX4_ENST00000343727.5_Silent_p.R501R|NOX4_ENST00000527956.1_Silent_p.R501R			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	525	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|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 protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTTCCACCGAGGACGTCCT	0.289																																																	0								ENSG00000086991						73	74	74					11																	89069056		2201	4296	6497	NOX4	SO:0001819	synonymous_variant	0			-	HGNC	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1573C>A	11.37:g.89069056G>T		Somatic	0	33	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP							pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R546	ENST00000263317.4	37	c.1636	CCDS8285.1	11																																																																																			-	pfam_Fe_red_NAD-bd_6		0.289	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	protein_coding	OTTHUMT00000394054.1	G	NM_016931	-		89069056	-1	no_errors	ENST00000413594	ensembl	human	known	74_37	silent	SNP	0.986	T	T	89069056	G	T	89069056	2	4	223	1	0	0	0	0	0	0	0	1	10560	1057	37	3		3	NOX4	11	89069056	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	17125706	89069056	45937460	40	18028											
ZW10	9183	genome.wustl.edu	37	chr11	113604439	113604439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaattttagcaagggcagCtgctcttctttctgtgttct	8	8	4	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr11:113604439C>T	ENST00000200135.3	-	16	2461	c.2317G>A	c.(2317-2319)Gct>Act	p.A773T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	773					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCAAGGGCAGCTGCTCTTCTT	0.423																																																	0								ENSG00000086827						102	100	101					11																	113604439		2201	4296	6497	ZW10	SO:0001583	missense	0			-	HGNC	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2317G>A	11.37:g.113604439C>T	ENSP00000200135:p.Ala773Thr	Somatic	0	40	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	3	91.18	A1A528	Missense_Mutation	SNP							pfam_RZZ-complex_Zw10	p.A773T	ENST00000200135.3	37	c.2317	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742655	0.49151	.	.	ENSG00000086827	ENST00000200135	T	0.45668	0.89	5.58	4.48	0.54585	.	0.158128	0.56097	D	0.000035	T	0.30479	0.0766	L	0.28740	0.885	0.53688	D	0.999973	B	0.06786	0.001	B	0.08055	0.003	T	0.06991	-1.0796	10	0.14656	T	0.56	-13.6341	15.3329	0.74229	0.0:0.9213:0.0:0.0787	.	773	O43264	ZW10_HUMAN	T	773	ENSP00000200135:A773T	ENSP00000200135:A773T	A	-	1	0	ZW10	113109649	0.992000	0.36948	0.995000	0.50966	0.998000	0.95712	2.976000	0.49289	2.610000	0.88304	0.591000	0.81541	GCT	-	NULL		0.423	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	protein_coding	OTTHUMT00000398700.1	C	NM_004724	-		113604439	-1	no_errors	ENST00000200135	ensembl	human	known	74_37	missense	SNP	0.997	T	T	113604439	C	T	113604439	3	4	223	1	0	0	0	0	1	0	0	0	18254	797	28	2	26	2	ZW10	11	113604439	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	24535383	113604439	21402077	41	18029											
ATF1	466	genome.wustl.edu	37	chr12	51203362	51203362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctatcagactagcagCggacagtacagtatgtatag	9	10	2	1	rs534424376		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr12:51203362C>T	ENST00000262053.3	+	4	340	c.318C>T	c.(316-318)agC>agT	p.S106S	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	106					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AGACTAGCAGCGGACAGTACA	0.403			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								C|||	1	0.000199681	0	0	5008	,	,		15507	0		0	False		,,,				2504	0.001							Dom	yes		12	12q13	466	activating transcription factor 1		"E, M"	0								ENSG00000123268						65	67	66					12																	51203362		2203	4300	6503	ATF1	SO:0001819	synonymous_variant	0			-	HGNC	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.318C>T	12.37:g.51203362C>T		Somatic	0	42	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	B4DRF9|P25168|Q9H4A8	Silent	SNP							pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.S106	ENST00000262053.3	37	c.318	CCDS8803.1	12																																																																																			-	prints_Leuzip_CREB		0.403	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF1	protein_coding	OTTHUMT00000404285.1	C	NM_005171	-		51203362	1	no_errors	ENST00000262053	ensembl	human	known	74_37	silent	SNP	0.995	T	T	51203362	C	T	51203362	2	4	223	1	0	0	0	0	0	0	0	1	1079	767	27	1		1	ATF1	12	51203362	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		51203362	82648533	42	18030											
MARS	4141	genome.wustl.edu	37	chr12	57883288	57883288	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggttcagtgcggagagccCtgactcacattgaccacagc	11	12	2	3			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr12:57883288C>G	ENST00000262027.5	+	4	495	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V	MARS_ENST00000447721.2_Intron|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	121	GST C-terminal.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCGGAGAGCCCTGACTCACAT	0.522																																																	0								ENSG00000166986						159	146	150					12																	57883288		2203	4300	6503	MARS	SO:0001583	missense	0			-	HGNC	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.361C>G	12.37:g.57883288C>G	ENSP00000262027:p.Leu121Val	Somatic	0	22	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP							pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.L121V	ENST00000262027.5	37	c.361	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	C	6.614	0.481621	0.12581	.	.	ENSG00000166986	ENST00000262027	T	0.77229	-1.08	5.1	1.21	0.21127	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	D	0.000005	T	0.65112	0.2660	L	0.42245	1.32	0.80722	D	1	B	0.33238	0.403	B	0.30316	0.114	T	0.56450	-0.7977	10	0.30078	T	0.28	-9.3015	9.7008	0.40184	0.0:0.6272:0.0:0.3728	.	121	P56192	SYMC_HUMAN	V	121	ENSP00000262027:L121V	ENSP00000262027:L121V	L	+	1	2	MARS	56169555	0.785000	0.28726	0.997000	0.53966	0.040000	0.13550	0.805000	0.27112	0.288000	0.22398	-0.794000	0.03295	CTG	-	superfamily_Glutathione-S-Trfase_C-like		0.522	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	protein_coding	OTTHUMT00000407014.1	C	NM_004990	-		57883288	1	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	SNP	0.998	G	G	57883288	C	G	57883288	3	3	223	1	0	0	0	0	1	0	0	0	9318	680	24	4	375	4	MARS	12	57883288	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	6679926	57883288	75968607	43	18031											
DRAM1	55332	genome.wustl.edu	37	chr12	102302067	102302067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcttacaaatcatgtcCccagtggaacagtctctcga	6	13	3	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr12:102302067C>T	ENST00000258534.8	+	4	885	c.446C>T	c.(445-447)cCc>cTc	p.P149L	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	149					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						AAATCATGTCCCCAGTGGAAC	0.512																																																	0								ENSG00000136048						191	188	189					12																	102302067		2069	4211	6280	DRAM1	SO:0001583	missense	0			-	HGNC	BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"damage-regulated autophagy modulator"	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.446C>T	12.37:g.102302067C>T	ENSP00000258534:p.Pro149Leu	Somatic	0	28	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	B7Z4T0|Q7L3E3|Q9NUN1	Missense_Mutation	SNP							pfam_Frag1/DRAM/Sfk1	p.P149L	ENST00000258534.8	37	c.446	CCDS41823.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581917	0.86748	.	.	ENSG00000136048	ENST00000258534	T	0.43294	0.95	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68561	-0.5376	10	0.40728	T	0.16	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	149	Q8N682	DRAM1_HUMAN	L	149	ENSP00000258534:P149L	ENSP00000258534:P149L	P	+	2	0	DRAM1	100826198	1.000000	0.71417	0.999000	0.59377	0.628000	0.37860	5.184000	0.65070	2.653000	0.90120	0.643000	0.83706	CCC	-	pfam_Frag1/DRAM/Sfk1		0.512	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM1	protein_coding	OTTHUMT00000409195.1	C	NM_018370	-		102302067	1	no_errors	ENST00000258534	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102302067	C	T	102302067	3	4	223	1	0	0	0	0	1	0	0	0	4755	623	22	2	460	2	DRAM1	12	102302067	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	44418779	102302067	31549828	44	18032											
GPR133	283383	genome.wustl.edu	37	chr12	131439034	131439034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctgctgcggctgtgCtgctggtactcctggctgct	14	11	0	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr12:131439034C>T	ENST00000261654.5	+	1	583	c.24C>T	c.(22-24)tgC>tgT	p.C8C	GPR133_ENST00000535015.1_Silent_p.C8C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	8					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCGGCTGTGCTGCTGGTACT	0.537																																																	0								ENSG00000111452						69	68	68					12																	131439034		2203	4300	6503	GPR133	SO:0001819	synonymous_variant	0			-	HGNC	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.24C>T	12.37:g.131439034C>T		Somatic	0	57	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.C8	ENST00000261654.5	37	c.24	CCDS9272.1	12																																																																																			-	NULL		0.537	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	protein_coding	OTTHUMT00000399356.1	C	NM_198827	-		131439034	1	no_errors	ENST00000261654	ensembl	human	known	74_37	silent	SNP	0.004	T	T	131439034	C	T	131439034	2	4	223	1	0	0	0	0	0	0	0	1	6645	805	28	2		2	GPR133	12	131439034	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	29136967	131439034	2412861	45	18033											
ZC3H13	23091	genome.wustl.edu	37	chr13	46619628	46619628	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccactgtgaccttcctTctaatttttgacattttgta	4	9	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr13:46619628T>C	ENST00000242848.4	-	2	363	c.15A>G	c.(13-15)agA>agG	p.R5R	ZC3H13_ENST00000282007.3_Silent_p.R5R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	5							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGACCTTCCTTCTAATTTTTG	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0								ENSG00000123200						178	183	181					13																	46619628		2203	4300	6503	ZC3H13	SO:0001819	synonymous_variant	0			-	HGNC	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.15A>G	13.37:g.46619628T>C		Somatic	0	31	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.R5	ENST00000242848.4	37	c.15		13																																																																																			-	NULL		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	protein_coding	OTTHUMT00000044789.1	T	NM_015070	-		46619628	-1	no_errors	ENST00000242848	ensembl	human	known	74_37	silent	SNP	1.000	C	C	46619628	T	C	46619628	2	2	223	1	0	0	0	0	0	0	0	1	17572	1780	62	5		5	ZC3H13	13	46619628	Silent	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09		46619628	68550250	46	18034											
DCT	1638	genome.wustl.edu	37	chr13	95131426	95131426	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggctgtccaccgtcatgcaGactcgggggaactgaccctg	13	13	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr13:95131426G>C	ENST00000377028.5	-	1	497	c.84C>G	c.(82-84)gtC>gtG	p.V28V	DCT_ENST00000446125.1_Silent_p.V28V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	28					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)			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)		CCGTCATGCAGACTCGGGGGA	0.602																																																	0								ENSG00000080166						42	41	41					13																	95131426		2203	4300	6503	DCT	SO:0001819	synonymous_variant	0			-	HGNC	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.84C>G	13.37:g.95131426G>C		Somatic	0	18	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	Q09GT4	Silent	SNP							pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.V28	ENST00000377028.5	37	c.84	CCDS9470.1	13																																																																																			-	NULL		0.602	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	protein_coding	OTTHUMT00000045461.3	G		-		95131426	-1	no_errors	ENST00000446125	ensembl	human	known	74_37	silent	SNP	1.000	C	C	95131426	G	C	95131426	2	2	223	1	0	0	0	0	0	0	0	1	4306	929	33	4		4	DCT	13	95131426	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	48511798	95131426	20038452	47	18035											
GPHB5	122876	genome.wustl.edu	37	chr14	63784386	63784386	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtctcacagcgaccccagCaggcatccgtggtgatccga	12	14	1	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr14:63784386C>A	ENST00000539258.1	-	0	234							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GCGACCCCAGCAGGCATCCGT	0.562																																																	0								ENSG00000179600						40	43	42					14																	63784386		2029	4181	6210	GPHB5			0			-	HGNC	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784386C>A		Somatic	0	63	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	60	26.83	Q6NTD0|Q8NFW2	RNA	SNP							-	NULL	ENST00000539258.1	37	NULL		14																																																																																			-	-		0.562	GPHB5-001	KNOWN	basic	processed_transcript	GPHB5	processed_transcript	OTTHUMT00000400582.1	C	NM_145171	-		63784386	-1	no_errors	ENST00000314140	ensembl	human	known	74_37	rna	SNP	1.000	A	A	63784386	C	A	63784386	1	1	223	0	1	0	0	0	0	0	0	0	6611	710	25	3		3	GPHB5	14	63784386	RNA	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		63784386	43565154	48	18036											
ZBTB25	7597	genome.wustl.edu	37	chr14	64957138	64957138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagcaagcactgctctGtgggctttgaagtaaacatc	10	9	1	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr14:64957138G>T	ENST00000608382.1	-	2	305	c.114C>A	c.(112-114)caC>caA	p.H38Q	ZBTB25_ENST00000394715.1_Missense_Mutation_p.H38Q|ZBTB25_ENST00000555220.1_Missense_Mutation_p.H38Q|ZBTB25_ENST00000555424.1_Missense_Mutation_p.H38Q	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	38	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|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(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GCACTGCTCTGTGGGCTTTGA	0.373																																																	0								ENSG00000089775						94	94	94					14																	64957138		2203	4300	6503	ZBTB25	SO:0001583	missense	0			-	HGNC	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.114C>A	14.37:g.64957138G>T	ENSP00000476746:p.His38Gln	Somatic	0	32	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KUX6|Q8IYH9	Missense_Mutation	SNP							pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H38Q	ENST00000608382.1	37	c.114	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958026	0.53400	.	.	ENSG00000089775	ENST00000555220;ENST00000555424;ENST00000261683;ENST00000394715	T;T;T;T	0.79749	-1.3;1.17;1.17;1.17	5.39	0.355	0.16069	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.94886	3.595	0.50313	D	0.999869	D;D	0.89917	1.0;0.99	D;D	0.91635	0.999;0.988	D	0.90189	0.4248	10	0.87932	D	0	-19.8499	10.6011	0.45367	0.3264:0.0:0.6736:0.0	.	38;38	P24278;G3V2K3	ZBT25_HUMAN;.	Q	38	ENSP00000450718:H38Q;ENSP00000451046:H38Q;ENSP00000261683:H38Q;ENSP00000378204:H38Q	ENSP00000261683:H38Q	H	-	3	2	ZBTB25	64026891	1.000000	0.71417	0.997000	0.53966	0.564000	0.35744	1.779000	0.38624	0.084000	0.17077	0.313000	0.20887	CAC	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.373	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	protein_coding	OTTHUMT00000280649.2	G	NM_006977	-		64957138	-1	no_errors	ENST00000394715	ensembl	human	known	74_37	missense	SNP	0.996	T	T	64957138	G	T	64957138	3	4	223	1	0	0	0	0	1	0	0	0	17539	1368	48	3	1201	3	ZBTB25	14	64957138	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	1172752	64957138	42392402	49	18037											
AGBL1	123624	genome.wustl.edu	37	chr15	86822903	86822903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtacagctgttgcaggCggagcatctgggaagtgcta	15	8	1	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr15:86822903C>T	ENST00000441037.2	+	15	2066	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	AGBL1_ENST00000421325.2_Silent_p.G657G|AGBL1_ENST00000389298.3_Silent_p.G388G	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	657					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)			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						CTGTTGCAGGCGGAGCATCTG	0.512																																																	0								ENSG00000166748						144	144	144					15																	86822903		2073	4215	6288	AGBL1	SO:0001819	synonymous_variant	0			-	HGNC	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.1971C>T	15.37:g.86822903C>T		Somatic	0	46	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	29	50.85	A1A4X5|A6NJH6|C9JHL5	Silent	SNP							pfam_Peptidase_M14,superfamily_ARM-type_fold	p.G657	ENST00000441037.2	37	c.1971	CCDS58398.1	15																																																																																			-	NULL		0.512	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	protein_coding	OTTHUMT00000314929.5	C	NM_152336	-		86822903	1	no_errors	ENST00000441037	ensembl	human	known	74_37	silent	SNP	0.215	T	T	86822903	C	T	86822903	2	4	223	1	0	0	0	0	0	0	0	1	375	755	27	1		1	AGBL1	15	86822903	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		86822903	15708489	50	18038											
SRRM2	23524	genome.wustl.edu	37	chr16	2812100	2812100	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtctgcacagaggtggggaaGatctagaagcccccagcgac	14	11	2	3			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr16:2812100G>C	ENST00000301740.8	+	11	2120	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	524	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)			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						AGGTGGGGAAGATCTAGAAGC	0.592																																																	0								ENSG00000167978						72	63	66					16																	2812100		2198	4300	6498	SRRM2	SO:0001583	missense	0			-	HGNC	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	ENST00000301740.8:c.1571G>C	16.37:g.2812100G>C	ENSP00000301740:p.Arg524Thr	Somatic	0	24	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP							pfam_mRNA_splic_Cwf21	p.R524T	ENST00000301740.8	37	c.1571	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058824	0.36277	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29397	1.57	5.91	2.89	0.33648	.	0.331639	0.25692	N	0.028926	T	0.17492	0.0420	N	0.19112	0.55	0.26132	N	0.980403	B	0.27498	0.18	B	0.24269	0.052	T	0.13656	-1.0501	10	0.45353	T	0.12	-1.7673	7.4897	0.27454	0.271:0.0:0.729:0.0	.	524	Q9UQ35	SRRM2_HUMAN	T	524;524;489	ENSP00000301740:R524T	ENSP00000301740:R524T	R	+	2	0	SRRM2	2752101	0.812000	0.29077	0.929000	0.37066	0.999000	0.98932	1.872000	0.39549	0.391000	0.25143	0.655000	0.94253	AGA	-	NULL		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	G		-		2812100	1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	SNP	0.931	C	C	2812100	G	C	2812100	3	2	223	1	0	0	0	0	1	0	0	0	15176	942	33	4	1609	4	SRRM2	16	2812100	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09		2812100	87542653	51	18039											
FAM57B	83723	genome.wustl.edu	37	chr16	30036684	30036684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggccggcatggcgcccGtaggcccagtacaggtaggg	18	12	0	0	rs548429317		TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr16:30036684G>A	ENST00000380495.4	-	5	1376	c.645C>T	c.(643-645)taC>taT	p.Y215Y	FAM57B_ENST00000279389.4_Silent_p.Y165Y|FAM57B_ENST00000564806.1_3'UTR	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	215	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)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CATGGCGCCCGTAGGCCCAGT	0.677													G|||	1	0.000199681	0	0	5008	,	,		14355	0.001		0	False		,,,				2504	0																0								ENSG00000149926						38	41	40					16																	30036684		2196	4299	6495	FAM57B	SO:0001819	synonymous_variant	0			-	HGNC	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.645C>T	16.37:g.30036684G>A		Somatic	0	17	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	Q9H0J1	Silent	SNP							pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.Y215	ENST00000380495.4	37	c.645	CCDS10667.2	16	.	.	.	.	.	.	.	.	.	.	G	9.172	1.021450	0.19433	.	.	ENSG00000149926	ENST00000279389	.	.	.	4.78	3.82	0.43975	.	.	.	.	.	T	0.59569	0.2203	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55829	-0.8079	4	.	.	.	-8.3604	9.4372	0.38646	0.1772:0.0:0.8228:0.0	.	.	.	.	M	182	.	.	T	-	2	0	FAM57B	29944185	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.439000	0.21575	0.987000	0.38709	0.561000	0.74099	ACG	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom		0.677	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57B	protein_coding	OTTHUMT00000255142.2	G	NM_031478	-		30036684	-1	no_errors	ENST00000380495	ensembl	human	known	74_37	silent	SNP	1.000	A	A	30036684	G	A	30036684	2	1	223	1	0	0	0	0	0	0	0	1	5591	1140	40	1		1	FAM57B	16	30036684	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	27224584	30036684	60318069	52	18040											
CYLD	1540	genome.wustl.edu	37	chr16	50785608	50785608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtggcgtgtttgttgcattgGacaagctagaactcatagaa	12	6	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr16:50785608G>T	ENST00000427738.3	+	3	803	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	CYLD_ENST00000566206.1_Missense_Mutation_p.D200Y|CYLD_ENST00000569418.1_Missense_Mutation_p.D200Y|CYLD_ENST00000568704.2_Missense_Mutation_p.D200Y|CYLD_ENST00000398568.2_Missense_Mutation_p.D200Y|CYLD_ENST00000540145.1_Missense_Mutation_p.D200Y|CYLD_ENST00000311559.9_Missense_Mutation_p.D200Y|CYLD_ENST00000564326.1_Missense_Mutation_p.D200Y			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	200	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGTTGCATTGGACAAGCTAGA	0.453			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0								ENSG00000083799						174	168	170					16																	50785608		2000	4174	6174	CYLD	SO:0001583	missense	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	-	HGNC	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.598G>T	16.37:g.50785608G>T	ENSP00000392025:p.Asp200Tyr	Somatic	0	40	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.00	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP							pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.D200Y	ENST00000427738.3	37	c.598	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818556	0.90790	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.64170	1.965	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;0.999;0.999;0.999	D	0.84915	0.0850	10	0.59425	D	0.04	-28.3111	20.6593	0.99626	0.0:0.0:1.0:0.0	.	200;200;200;200	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	Y	200	ENSP00000445447:D200Y;ENSP00000308928:D200Y;ENSP00000392025:D200Y;ENSP00000381574:D200Y	ENSP00000308928:D200Y	D	+	1	0	CYLD	49343109	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.414000	0.97362	2.885000	0.99019	0.655000	0.94253	GAC	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain		0.453	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	protein_coding	OTTHUMT00000422998.2	G		-		50785608	1	no_errors	ENST00000311559	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50785608	G	T	50785608	3	4	223	1	0	0	0	0	1	0	0	0	4145	1174	41	3	604	3	CYLD	16	50785608	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	20748924	50785608	39569145	53	18041											
SERPINF1	5176	genome.wustl.edu	37	chr17	1675236	1675236	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaggcccagagtcctgacGggcaaccctcgcttggacct	11	16	0	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr17:1675236G>T	ENST00000254722.4	+	5	673	c.510G>T	c.(508-510)acG>acT	p.T170T		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	170					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GAGTCCTGACGGGCAACCCTC	0.547																																																	0								ENSG00000132386						68	64	65					17																	1675236		2203	4300	6503	SERPINF1	SO:0001819	synonymous_variant	0			-	HGNC	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.510G>T	17.37:g.1675236G>T		Somatic	0	26	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.T170	ENST00000254722.4	37	c.510	CCDS11012.1	17																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.547	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	protein_coding	OTTHUMT00000207109.4	G	NM_002615	-		1675236	1	no_errors	ENST00000254722	ensembl	human	known	74_37	silent	SNP	0.007	T	T	1675236	G	T	1675236	2	4	223	1	0	0	0	0	0	0	0	1	14122	1103	39	3		3	SERPINF1	17	1675236	Silent	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09		1675236	79519974	54	18042											
KCNJ12	3768	genome.wustl.edu	37	chr17	21318837	21318837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgagttcgccaacatggaCgagaagtcacagcgctacct	10	11	1	2	rs61514986	byFrequency	TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr17:21318837C>T	ENST00000583088.1	+	3	1078	c.183C>T	c.(181-183)gaC>gaT	p.D61D	KCNJ12_ENST00000331718.5_Silent_p.D61D	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	61					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCAACATGGACGAGAAGTCAC	0.592										Prostate(3;0.18)																																							0								ENSG00000184185	C		66,4340	55.5+/-91.7	0,66,2137	206	134	158		183	-1.7	1	17	dbSNP_129	158	117,8483	56.0+/-117.1	0,117,4183	no	coding-synonymous	KCNJ12	NM_021012.4		0,183,6320	TT,TC,CC		1.3605,1.498,1.407		61/434	21318837	183,12823	2203	4300	6503	KCNJ12	SO:0001819	synonymous_variant	0			-	HGNC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.183C>T	17.37:g.21318837C>T		Somatic	0	56	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	93	20.34	O43401|Q15756|Q8NG63	Silent	SNP							pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.D61	ENST00000583088.1	37	c.183	CCDS11219.1	17																																																																																			-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2		0.592	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	protein_coding	OTTHUMT00000255060.2	C	NM_021012	rs61514986		21318837	1	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	SNP	0.958	T	T	21318837	C	T	21318837	2	4	223	1	0	0	0	0	0	0	0	1	8048	535	19	1		1	KCNJ12	17	21318837	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	19643601	21318837	59876373	55	18043											
MAP2K2	5605	genome.wustl.edu	37	chr19	4099304	4099304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcctccagctctttggCgtcgggcggggggatggggt	20	9	1	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr19:4099304C>T	ENST00000262948.5	-	7	1067	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	MAP2K2_ENST00000394867.4_Missense_Mutation_p.A175T|MAP2K2_ENST00000599345.1_5'Flank	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	272	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|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)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|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)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	AGCTCTTTGGCGTCGGGCGGG	0.687																																																	0								ENSG00000126934						14	16	15					19																	4099304		2198	4296	6494	MAP2K2	SO:0001583	missense	0			-	HGNC	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.814G>A	19.37:g.4099304C>T	ENSP00000262948:p.Ala272Thr	Somatic	0	55	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	47	38.16		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A272T	ENST00000262948.5	37	c.814	CCDS12120.1	19	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646264	0.47258	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	T;T	0.65178	-0.14;-0.14	4.53	2.27	0.28462	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.317119	0.33938	N	0.004415	T	0.41650	0.1168	N	0.21097	0.63	0.43457	D	0.99565	B	0.15719	0.014	B	0.19946	0.027	T	0.28073	-1.0055	10	0.27082	T	0.32	-26.8413	6.599	0.22691	0.1812:0.7179:0.0:0.1008	.	272	P36507	MP2K2_HUMAN	T	272;175	ENSP00000262948:A272T;ENSP00000378336:A175T	ENSP00000262948:A272T	A	-	1	0	MAP2K2	4050304	0.843000	0.29541	0.983000	0.44433	0.989000	0.77384	1.636000	0.37144	2.252000	0.74401	0.549000	0.68633	GCC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.687	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K2	protein_coding	OTTHUMT00000258957.2	C		-		4099304	-1	no_errors	ENST00000262948	ensembl	human	known	74_37	missense	SNP	0.995	T	T	4099304	C	T	4099304	3	4	223	1	0	0	0	0	1	0	0	0	9239	768	27	1	408	1	MAP2K2	19	4099304	Missense_Mutation	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		4099304	55029679	56	18044											
KANK2	25959	genome.wustl.edu	37	chr19	11303728	11303729	+	Frame_Shift_Ins	INS	-	-	C													ggcgccagcggctgtgctggINSccaccacctccacctcccgt							TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr19:11303728_11303729insC	ENST00000586659.1	-	4	1341_1342	c.1027_1028insG	c.(1027-1029)gccfs	p.A343fs	KANK2_ENST00000432929.2_Frame_Shift_Ins_p.A343fs|KANK2_ENST00000589359.1_Frame_Shift_Ins_p.A343fs|KANK2_ENST00000589894.1_Frame_Shift_Ins_p.A343fs|KANK2_ENST00000355150.5_Frame_Shift_Ins_p.A343fs			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	343					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTGCTGGCCACCACCTCC	0.728																																																	0								ENSG00000197256																																			KANK2	SO:0001589	frameshift_variant	0				HGNC	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1028dupG	19.37:g.11303730_11303730dupC	ENSP00000465650:p.Ala343fs	Somatic	0	33	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Frame_Shift_Ins	INS							pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A343fs	ENST00000586659.1	37	c.1028_1027	CCDS12255.1	19																																																																																			-	NULL		0.728	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	protein_coding	OTTHUMT00000453066.2	-	NM_015493			11303729	-1	no_errors	ENST00000432929	ensembl	human	known	74_37	frame_shift_ins	INS	0.984:0.975	C	C	11303729	-	C	11303728	7	5	223	1	0	1	1	0	0	0	0	0	7979	1203	42	0	1591	0	KANK2	19	11303728	Frame_Shift_Ins	INS	-	TCGA-WK-A8XS-01A-11D-A37C-09	7204424	11303728	47825255	57	18045											
LRP3	4037	genome.wustl.edu	37	chr19	33697152	33697152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatgggtgcctggccgcCgtgccccgcaaggtcatcac	14	15	2	0			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr19:33697152C>T	ENST00000253193.7	+	5	1678	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	492					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCCTGGCCGCCGTGCCCCGCA	0.657																																																	0								ENSG00000130881						24	23	23					19																	33697152		2201	4293	6494	LRP3	SO:0001819	synonymous_variant	0			-	HGNC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1476C>T	19.37:g.33697152C>T		Somatic	0	37	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B3KQD6|B4DKF2	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.A492	ENST00000253193.7	37	c.1476	CCDS12430.1	19																																																																																			-	NULL		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP3	protein_coding	OTTHUMT00000450842.4	C		-		33697152	1	no_errors	ENST00000253193	ensembl	human	known	74_37	silent	SNP	0.004	T	T	33697152	C	T	33697152	2	4	223	1	0	0	0	0	0	0	0	1	8960	639	23	1		1	LRP3	19	33697152	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09	22393424	33697152	25431831	58	18046											
KCNA7	3743	genome.wustl.edu	37	chr19	49573848	49573848	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaagacacgcaccaaTcggatgactctcaggatggc	12	11	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr19:49573848T>A	ENST00000221444.1	-	2	1198	c.843A>T	c.(841-843)cgA>cgT	p.R281R		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	281					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CACGCACCAATCGGATGACTC	0.632																																					Colon(74;686 1235 3793 23366 48562)												0								ENSG00000104848						86	80	82					19																	49573848		2203	4300	6503	KCNA7	SO:0001819	synonymous_variant	0			-	HGNC	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.843A>T	19.37:g.49573848T>A		Somatic	0	40	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	8	57.89	A1KYX7|Q9BYS4	Silent	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.R281	ENST00000221444.1	37	c.843	CCDS12755.1	19																																																																																			-	pfam_Ion_trans_dom		0.632	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	protein_coding	OTTHUMT00000466263.1	T	NM_031886	-		49573848	-1	no_errors	ENST00000221444	ensembl	human	known	74_37	silent	SNP	0.729	A	A	49573848	T	A	49573848	2	1	223	1	0	0	0	0	0	0	0	1	8010	1422	50	5		5	KCNA7	19	49573848	Silent	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09	15876696	49573848	9555135	59	18047											
CDH4	1002	genome.wustl.edu	37	chr20	60318791	60318791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcagagaaatgggaCgccgtggtgcggttgctggt	17	8	0	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chr20:60318791C>T	ENST00000360469.5	+	3	430	c.342C>T	c.(340-342)gaC>gaT	p.D114D	CDH4_ENST00000543233.1_Silent_p.D40D|RP11-429E11.2_ENST00000447909.1_RNA|RP11-429E11.2_ENST00000442888.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	114					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)			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)			AGAAATGGGACGCCGTGGTGC	0.637																																																	0								ENSG00000179242						61	48	52					20																	60318791		2202	4300	6502	CDH4	SO:0001819	synonymous_variant	0			-	HGNC	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.342C>T	20.37:g.60318791C>T		Somatic	0	15	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	7	58.82	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.D114	ENST00000360469.5	37	c.342	CCDS13488.1	20																																																																																			-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like		0.637	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	C	NM_001794	-		60318791	1	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	SNP	0.001	T	T	60318791	C	T	60318791	2	4	223	1	0	0	0	0	0	0	0	1	3114	535	19	1		1	CDH4	20	60318791	Silent	SNP	C	TCGA-WK-A8XS-01A-11D-A37C-09		60318791	2706729	60	18048											
PHF6	84295	genome.wustl.edu	37	chrX	133527620	133527620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactaccactgtgcattgcaTgataaagctcaaatacgaga	7	10	1	2			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chrX:133527620T>A	ENST00000332070.3	+	4	532	c.330T>A	c.(328-330)caT>caA	p.H110Q	PHF6_ENST00000370803.3_Missense_Mutation_p.H110Q|PHF6_ENST00000370799.1_Missense_Mutation_p.H110Q|PHF6_ENST00000394292.1_Missense_Mutation_p.H110Q|PHF6_ENST00000370800.4_Missense_Mutation_p.H110Q|PHF6_ENST00000416404.2_Missense_Mutation_p.H76Q	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	110	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)					GTGCATTGCATGATAAAGCTC	0.348			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0								ENSG00000156531						154	128	137					X																	133527620		2203	4300	6503	PHF6	SO:0001583	missense	0			-	HGNC	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.330T>A	X.37:g.133527620T>A	ENSP00000329097:p.His110Gln	Somatic	0	57	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	30	45.45	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP							superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.H110Q	ENST00000332070.3	37	c.330	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	T	8.052	0.766301	0.15983	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.15	1.33	0.21861	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.166026	0.56097	D	0.000034	T	0.28830	0.0715	N	0.00583	-1.355	0.40701	D	0.982486	B;B;B;B;B	0.16396	0.017;0.002;0.01;0.01;0.005	B;B;B;B;B	0.18871	0.023;0.001;0.022;0.022;0.006	T	0.03287	-1.1052	10	0.26408	T	0.33	-12.7114	8.247	0.31695	0.0:0.2399:0.0:0.7601	.	76;110;110;110;110	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	Q	110;110;110;110;76;110	ENSP00000359839:H110Q;ENSP00000329097:H110Q;ENSP00000377831:H110Q;ENSP00000359835:H110Q;ENSP00000394480:H76Q;ENSP00000359836:H110Q	ENSP00000329097:H110Q	H	+	3	2	PHF6	133355286	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.214000	0.42853	-0.039000	0.13602	-0.520000	0.04383	CAT	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.348	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	T	NM_032458	-		133527620	1	no_errors	ENST00000394292	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133527620	T	A	133527620	3	1	223	1	0	0	0	0	1	0	0	0	11840	1461	51	5	340	5	PHF6	23	133527620	Missense_Mutation	SNP	T	TCGA-WK-A8XS-01A-11D-A37C-09		133527620	21742940	61	18049											
PNMA3	29944	genome.wustl.edu	37	chrX	152226127	152226127	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctggctgccttgcagcagGtgttcggacctgtggagagc	16	11	0	1			TCGA-WK-A8XS-01A-11D-A37C-09	TCGA-WK-A8XS-10E-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf	4942810b-91b3-42b0-b774-741d0c2aed08	g.chrX:152226127G>C	ENST00000370264.4	+	1	741	c.715G>C	c.(715-717)Gtg>Ctg	p.V239L	PNMA3_ENST00000370265.4_Missense_Mutation_p.V239L|PNMA3_ENST00000447306.1_Missense_Mutation_p.V239L			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	239					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cttgcagcaggtgttcggacc	0.542																																																	0								ENSG00000183837						122	124	123					X																	152226127		2203	4300	6503	PNMA3	SO:0001583	missense	0			-	HGNC	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.715G>C	X.37:g.152226127G>C	ENSP00000359286:p.Val239Leu	Somatic	0	44	0		0.703216881711982				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	28	46.15	D3DWT7|Q9H0A4	Missense_Mutation	SNP							superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.V239L	ENST00000370264.4	37	c.715	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	g	13.16	2.153246	0.38021	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.10477	2.87;2.87;2.87	1.98	1.1	0.20463	.	.	.	.	.	T	0.14657	0.0354	L	0.56340	1.77	0.09310	N	1	P	0.51933	0.949	P	0.52881	0.712	T	0.16897	-1.0387	9	0.25751	T	0.34	.	4.2224	0.10565	0.2157:0.0:0.7843:0.0	.	239	Q9UL41	PNMA3_HUMAN	L	239	ENSP00000359288:V239L;ENSP00000407642:V239L;ENSP00000359286:V239L	ENSP00000359286:V239L	V	+	1	0	PNMA3	151976783	0.773000	0.28580	0.043000	0.18650	0.033000	0.12548	0.226000	0.17776	0.309000	0.22966	0.464000	0.42555	GTG	-	NULL		0.542	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	protein_coding	OTTHUMT00000060946.2	G	NM_013364	-		152226127	1	no_errors	ENST00000370264	ensembl	human	known	74_37	missense	SNP	0.039	C	C	152226127	G	C	152226127	3	2	223	1	0	0	0	0	1	0	0	0	12157	1261	44	4	717	4	PNMA3	23	152226127	Missense_Mutation	SNP	G	TCGA-WK-A8XS-01A-11D-A37C-09	18698507	152226127	3044433	62	18050											
FOXD2	2306	genome.wustl.edu	37	chr1	47904668	47904669	+	In_Frame_Ins	INS	-	-	CCGCAC													cgccggggccggccccgcatINSccgcacccgcacccgcacgc					rs113438724|rs3046924|rs71053113	byFrequency	TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr1:47904668_47904669insCCGCAC	ENST00000334793.5	+	1	2980_2981	c.861_862insCCGCAC	c.(862-864)ccg>CCGCACccg	p.288_288P>PHP		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	288	Ala-rich.|Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		cggccccgcatccgcacccgca	0.787														4830	0.964457	0.9107	0.9827	5008	,	,		7050	0.9881		0.992	False		,,,				2504	0.9714																0								ENSG00000186564			161,17		80,1,8						-2.5	0.2		dbSNP_102	1	364,38		182,0,19	no	coding	FOXD2	NM_004474.3		262,1,27	A1A1,A1R,RR		9.4527,9.5506,9.4828				525,55				FOXD2	SO:0001652	inframe_insertion	0				HGNC	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.874_879dupCCGCAC	1.37:g.47904669_47904674dupCCGCAC	ENSP00000335493:p.HisPro292dup	Somatic					0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q5SVZ3	In_Frame_Ins	INS							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.291in_frame_insPH	ENST00000334793.5	37	c.861_862	CCDS30708.1	1																																																																																			-	NULL		0.787	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	protein_coding	OTTHUMT00000021831.1	-	NM_004474			47904669	1	no_errors	ENST00000334793	ensembl	human	known	74_37	in_frame_ins	INS	0.056:0.602	CCGCAC	CCGCAC	47904669	-	CCGCAC	47904668	7	5	224	1	0	1	1	0	0	0	0	0	5999	1432	50	0	863	0	FOXD2	1	47904668	In_Frame_Ins	INS	-	TCGA-WK-A8XT-01A-11D-A37C-09		47904668	201345953	1	18051											
ACP6	51205	genome.wustl.edu	37	chr1	147119311	147119311	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaggtataaactgacatggCattcaagaacatgtccagcg	9	8	1	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr1:147119311C>G	ENST00000369238.6	-	10	1648	c.1201G>C	c.(1201-1203)Gcc>Ccc	p.A401P	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	401					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ACTGACATGGCATTCAAGAAC	0.483																																																	0								ENSG00000162836						134	127	129					1																	147119311		2203	4300	6503	ACP6	SO:0001583	missense	0			-	HGNC	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1201G>C	1.37:g.147119311C>G	ENSP00000358241:p.Ala401Pro	Somatic	0	55	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	29	49.15	Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP							pfam_His_Pase_superF_clade-2	p.A401P	ENST00000369238.6	37	c.1201	CCDS928.1	1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949017	0.34377	.	.	ENSG00000162836	ENST00000369238	T	0.44083	0.93	4.6	-2.29	0.06805	.	0.422568	0.26016	N	0.026854	T	0.22205	0.0535	L	0.43923	1.385	0.09310	N	1	P	0.52170	0.951	P	0.54706	0.759	T	0.19582	-1.0301	10	0.48119	T	0.1	.	4.7306	0.12962	0.1386:0.412:0.0:0.4494	.	401	Q9NPH0	PPA6_HUMAN	P	401	ENSP00000358241:A401P	ENSP00000358241:A401P	A	-	1	0	ACP6	145585935	0.000000	0.05858	0.129000	0.21949	0.101000	0.19017	-1.350000	0.02624	-0.770000	0.04614	-0.244000	0.11960	GCC	-	NULL		0.483	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP6	protein_coding	OTTHUMT00000039420.2	C	NM_016361	-		147119311	-1	no_errors	ENST00000369238	ensembl	human	known	74_37	missense	SNP	0.013	G	G	147119311	C	G	147119311	3	3	224	1	0	0	0	0	1	0	0	0	165	710	25	4	89	4	ACP6	1	147119311	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	99214643	147119311	102131310	2	18052											
MCL1	4170	genome.wustl.edu	37	chr1	150551644	150551644	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccagctcctcttcgggCgacatgatggcgtcagcggc	13	15	2	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr1:150551644C>A	ENST00000369026.2	-	1	422	c.363G>T	c.(361-363)tcG>tcT	p.S121S	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.S121S	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	121	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTCTTCGGGCGACATGATGG	0.687																																																	0								ENSG00000143384						15	18	17					1																	150551644		2149	4215	6364	MCL1	SO:0001819	synonymous_variant	0			-	HGNC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.363G>T	1.37:g.150551644C>A		Somatic	0	37	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP							pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	p.S121	ENST00000369026.2	37	c.363	CCDS957.1	1																																																																																			-	NULL		0.687	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCL1	protein_coding	OTTHUMT00000084402.1	C	NM_021960	-		150551644	-1	no_errors	ENST00000369026	ensembl	human	known	74_37	silent	SNP	0.714	A	A	150551644	C	A	150551644	2	1	224	1	0	0	0	0	0	0	0	1	9386	755	27	3		3	MCL1	1	150551644	Silent	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	3432333	150551644	98698977	3	18053											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161022453	161022453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgatagtatggtagggccGcatctgtgggggtccatcgc	16	8	1	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr1:161022453G>C	ENST00000368013.3	-	7	1119	c.799C>G	c.(799-801)Cgg>Ggg	p.R267G	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R90G|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R267G	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	267					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGGTAGGGCCGCATCTGTGGG	0.587																																																	0								ENSG00000186517						69	69	69					1																	161022453		2203	4300	6503	ARHGAP30	SO:0001583	missense	0			-	HGNC	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.799C>G	1.37:g.161022453G>C	ENSP00000356992:p.Arg267Gly	Somatic	0	45	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	52.27	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R267G	ENST00000368013.3	37	c.799	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285035	0.40394	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.33438	2.99;2.93;1.41	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000016	T	0.30448	0.0765	L	0.40543	1.245	0.44024	D	0.996749	D;P	0.63880	0.993;0.938	P;P	0.59546	0.859;0.808	T	0.03807	-1.1002	10	0.48119	T	0.1	.	13.8274	0.63359	0.0:0.0:1.0:0.0	.	267;267	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	G	267;267;119;90	ENSP00000356995:R267G;ENSP00000356992:R267G;ENSP00000356994:R90G	ENSP00000356992:R267G	R	-	1	2	ARHGAP30	159289077	1.000000	0.71417	0.962000	0.40283	0.842000	0.47809	3.963000	0.56773	2.097000	0.63578	0.549000	0.68633	CGG	-	NULL		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	protein_coding	OTTHUMT00000077090.2	G	NM_181720	-		161022453	-1	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	SNP	0.994	C	C	161022453	G	C	161022453	3	2	224	1	0	0	0	0	1	0	0	0	879	1086	38	4	2530	4	ARHGAP30	1	161022453	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	10470809	161022453	88228168	4	18054											
TNFSF18	8995	genome.wustl.edu	37	chr1	173019993	173019993	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctctgagctccttgagttCttgaatggcttaaaggcata	9	8	2	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr1:173019993C>A	ENST00000404377.3	-	1	110	c.110G>T	c.(109-111)aGa>aTa	p.R37I	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.R15I	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	37					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TCCTTGAGTTCTTGAATGGCT	0.388																																																	0								ENSG00000120337						84	78	80					1																	173019993		2203	4300	6503	TNFSF18	SO:0001583	missense	0			-	HGNC	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"Tumor necrosis factor (ligand) superfamily"	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.110G>T	1.37:g.173019993C>A	ENSP00000385470:p.Arg37Ile	Somatic	0	42	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom	p.R37I	ENST00000404377.3	37	c.110	CCDS1305.2	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751361	0.31046	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.36	-1.39	0.08997	.	1.229190	0.05406	N	0.541570	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.35151	-0.9800	9	0.59425	D	0.04	0.0379	3.0184	0.06067	0.3137:0.3267:0.0:0.3595	.	37	Q9UNG2	TNF18_HUMAN	I	37;15	.	ENSP00000239468:R15I	R	-	2	0	TNFSF18	171286616	0.001000	0.12720	0.000000	0.03702	0.054000	0.15201	-0.298000	0.08265	0.052000	0.16007	0.591000	0.81541	AGA	-	NULL		0.388	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF18	protein_coding	OTTHUMT00000084268.2	C	NM_005092	-		173019993	-1	no_errors	ENST00000404377	ensembl	human	known	74_37	missense	SNP	0.000	A	A	173019993	C	A	173019993	3	1	224	1	0	0	0	0	1	0	0	0	16316	913	32	3	501	3	TNFSF18	1	173019993	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	11997540	173019993	76230628	5	18055											
FAM129A	116496	genome.wustl.edu	37	chr1	184767242	184767242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcaagcaggatctgaTgtaaaatctcctcatagaca	6	9	5	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr1:184767242T>C	ENST00000367511.3	-	13	1830	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	546					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAGGATCTGATGTAAAATCTC	0.428																																																	0								ENSG00000135842						96	88	90					1																	184767242		2203	4300	6503	FAM129A	SO:0001583	missense	0			-	HGNC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1637A>G	1.37:g.184767242T>C	ENSP00000356481:p.His546Arg	Somatic	0	47	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	20	52.38	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP							NULL	p.H546R	ENST00000367511.3	37	c.1637	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	T	3.978	-0.007046	0.07773	.	.	ENSG00000135842	ENST00000367511	T	0.09445	2.98	5.37	5.37	0.77165	.	0.436525	0.25596	N	0.029583	T	0.11580	0.0282	L	0.40543	1.245	0.22771	N	0.998756	B;P	0.41265	0.302;0.744	B;B	0.44044	0.124;0.439	T	0.20773	-1.0265	10	0.22706	T	0.39	-3.151	9.9523	0.41647	0.1509:0.0:0.0:0.8491	.	77;546	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	R	546	ENSP00000356481:H546R	ENSP00000356481:H546R	H	-	2	0	FAM129A	183033865	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.971000	0.49248	2.034000	0.60081	0.533000	0.62120	CAT	-	NULL		0.428	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	protein_coding	OTTHUMT00000085786.1	T		-		184767242	-1	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	SNP	0.941	C	C	184767242	T	C	184767242	3	2	224	1	0	0	0	0	1	0	0	0	5438	1464	51	5	1157	5	FAM129A	1	184767242	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09	11747249	184767242	64483379	6	18056											
TRIB2	28951	genome.wustl.edu	37	chr2	12858577	12858577	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacctcggctccccgagcccGcccgagactccgaacttgtc	9	19	0	1	rs200687298		TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr2:12858577G>C	ENST00000405331.3	+	1	214	c.144G>C	c.(142-144)ccG>ccC	p.P48P	TRIB2_ENST00000381465.2_Intron|RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000155926.4_Silent_p.P48P					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCCGAGCCCGCCCGAGACTC	0.557											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000071575						69	79	76					2																	12858577		2203	4300	6503	TRIB2	SO:0001819	synonymous_variant	0			-	HGNC	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.144G>C	2.37:g.12858577G>C		Somatic	0	59	0	683	0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	16	68.63		Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P48	ENST00000405331.3	37	c.144		2																																																																																			-	NULL		0.557	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	TRIB2	protein_coding	OTTHUMT00000323585.1	G	NM_021643	-		12858577	1	no_errors	ENST00000155926	ensembl	human	known	74_37	silent	SNP	1.000	C	C	12858577	G	C	12858577	2	2	224	1	0	0	0	0	0	0	0	1	16490	1074	38	4		4	TRIB2	2	12858577	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		12858577	230340796	7	18057											
LHCGR	3973	genome.wustl.edu	37	chr2	48982755	48982756	+	In_Frame_Ins	INS	-	-	GCTGCA													cagcgctcgtggcagcggcgINSgctgcagcagcagcagcagc					rs188002889|rs376653903|rs58356637|rs142537840	byFrequency	TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr2:48982755_48982756insGCTGCA	ENST00000294954.7	-	1	76_77	c.55_56insTGCAGC	c.(55-57)ccg>cTGCAGCcg	p.18_19insLQ	LHCGR_ENST00000405626.1_In_Frame_Ins_p.18_19insLQ|LHCGR_ENST00000401907.1_In_Frame_Ins_p.18_19insLQ|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_In_Frame_Ins_p.18_19insLQ|LHCGR_ENST00000344775.3_In_Frame_Ins_p.18_19insLQ	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	18			Q -> QLQ (may be associated with earlier age of onset of breast cancer and poor prognosis). {ECO:0000269|PubMed:9851790, ECO:0000269|PubMed:9858858}.	P -> A (in Ref. 3; AAA70231). {ECO:0000305}.	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)	TGgcagcggcggctgcagcagc	0.723														724	0.144569	0.1959	0.1455	5008	,	,		10728	0.0139		0.2624	False		,,,				2504	0.0879																0			GRCh37	CI035605	LHCGR	I	rs188002889	ENSG00000138039		,	191,1163		76,39,562					,	-7.2	0		dbSNP_130	2	644,2246		207,230,1008	no	intron,coding	LHCGR,STON1-GTF2A1L	NM_001198593.1,NM_000233.3	,	283,269,1570	A1A1,A1R,RR		22.2837,14.1064,19.6748	,	,		835,3409				LHCGR	SO:0001652	inframe_insertion	0				HGNC		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.50_55dupTGCAGC	2.37:g.48982756_48982761dupGCTGCA	ENSP00000294954:p.Leu17_Gln18dup	Somatic					0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q14751|Q15996|Q9UEW9	In_Frame_Ins	INS							pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.19in_frame_insLQ	ENST00000294954.7	37	c.56_55	CCDS1842.1	2																																																																																			-	prints_TSH_rcpt		0.723	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	-	NM_000233.3			48982756	-1	no_errors	ENST00000294954	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.001	GCTGCA	GCTGCA	48982756	-	GCTGCA	48982755	7	5	224	1	0	1	1	0	0	0	0	0	8764	1116	39	0	2087	0	LHCGR	2	48982755	In_Frame_Ins	INS	-	TCGA-WK-A8XT-01A-11D-A37C-09	36124178	48982755	194216618	8	18058											
STK25	10494	genome.wustl.edu	37	chr2	242435082	242435082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacagcagtgcgcttcagcGggtggatgtcaggtggtttc	16	8	2	0	rs558360310		TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr2:242435082G>T	ENST00000316586.4	-	12	1625	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	STK25_ENST00000401869.1_Missense_Mutation_p.R426S|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.R332S|STK25_ENST00000405883.3_Missense_Mutation_p.R349S|STK25_ENST00000403346.3_Missense_Mutation_p.R426S|STK25_ENST00000543554.1_Missense_Mutation_p.R332S|STK25_ENST00000405585.1_Missense_Mutation_p.R349S	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	426					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCGCTTCAGCGGGTGGATGTC	0.552																																					NSCLC(99;1100 1566 7679 28647 48345)												0								ENSG00000115694						204	165	178					2																	242435082		2203	4300	6503	STK25	SO:0001583	missense	0			-	HGNC	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1276C>A	2.37:g.242435082G>T	ENSP00000325748:p.Arg426Ser	Somatic	0	36	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R426S	ENST00000316586.4	37	c.1276	CCDS2549.1	2	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140497	0.37825	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	T;T;T;T;T;T;T	0.73469	-0.62;-0.62;-0.62;-0.73;-0.73;-0.75;-0.75	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	L	0.38175	1.15	0.58432	D	0.999996	D;B;D	0.63880	0.993;0.038;0.987	D;B;D	0.71184	0.972;0.026;0.931	T	0.82864	-0.0246	10	0.87932	D	0	.	15.7243	0.77743	0.0:0.0:1.0:0.0	.	352;349;426	B4DVS7;A8K6Z3;O00506	.;.;STK25_HUMAN	S	426;426;426;349;336;349;332;332	ENSP00000325748:R426S;ENSP00000384162:R426S;ENSP00000385687:R426S;ENSP00000384444:R349S;ENSP00000385541:R349S;ENSP00000444886:R332S;ENSP00000446008:R332S	ENSP00000325748:R426S	R	-	1	0	STK25	242083755	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	4.924000	0.63418	2.203000	0.70933	0.561000	0.74099	CGC	-	NULL		0.552	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK25	protein_coding	OTTHUMT00000257265.4	G	NM_006374	-		242435082	-1	no_errors	ENST00000316586	ensembl	human	known	74_37	missense	SNP	1.000	T	T	242435082	G	T	242435082	3	4	224	1	0	0	0	0	1	0	0	0	15301	1116	39	3	8	3	STK25	2	242435082	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	193452327	242435082	764291	9	18059											
MTMR14	64419	genome.wustl.edu	37	chr3	9719070	9719070	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcatatttaactggaagcAggtatgagcaataacataca	8	7	1	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr3:9719070A>G	ENST00000296003.4	+	8	943	c.821A>G	c.(820-822)cAg>cGg	p.Q274R	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Splice_Site_p.Q274R|MTMR14_ENST00000351233.5_Splice_Site_p.Q274R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	274					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AACTGGAAGCAGGTATGAGCA	0.408																																																	0								ENSG00000163719						132	120	124					3																	9719070		1899	4122	6021	MTMR14	SO:0001630	splice_region_variant	0			-	HGNC	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.822+1A>G	3.37:g.9719070A>G		Somatic	0	51	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	5	79.17	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP							NULL	p.Q274R	ENST00000296003.4	37	c.821	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495224	0.85069	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	M	0.72118	2.19	0.80722	D	1	D;B;B	0.63046	0.992;0.335;0.192	D;B;B	0.72982	0.979;0.188;0.061	D	0.95214	0.8328	10	0.87932	D	0	0.8162	15.4921	0.75615	1.0:0.0:0.0:0.0	.	274;274;274	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	R	274;274;274;274;46	ENSP00000323462:Q274R;ENSP00000296003:Q274R;ENSP00000334070:Q274R;ENSP00000388746:Q46R	ENSP00000296003:Q274R	Q	+	2	0	MTMR14	9694070	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.275000	0.89892	2.055000	0.61198	0.533000	0.62120	CAG	-	NULL		0.408	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	protein_coding	OTTHUMT00000338435.1	A	NM_022485	-	Missense_Mutation	9719070	1	no_errors	ENST00000296003	ensembl	human	known	74_37	missense	SNP	1.000	G	G	9719070	A	G	9719070	5	3	224	1	0	0	0	0	0	0	1	0	9944	202	7	5	851	5	MTMR14	3	9719070	Splice_Site	SNP	A	TCGA-WK-A8XT-01A-11D-A37C-09		9719070	188303360	10	18060											
CX3CR1	1524	genome.wustl.edu	37	chr3	39307455	39307455	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acgggccagatttcctggagGacctcggggtagtcaccaag	14	11	1	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr3:39307455G>C	ENST00000541347.1	-	2	785	c.546C>G	c.(544-546)gtC>gtG	p.V182V	CX3CR1_ENST00000358309.3_Silent_p.V214V|CX3CR1_ENST00000399220.2_Silent_p.V182V|CX3CR1_ENST00000542107.1_Silent_p.V182V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	182					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTTCCTGGAGGACCTCGGGGT	0.502																																																	0								ENSG00000168329						104	104	104					3																	39307455		1920	4120	6040	CX3CR1	SO:0001819	synonymous_variant	0			-	HGNC	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.546C>G	3.37:g.39307455G>C		Somatic	0	69	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	7	78.12	A0N0N6|B2R5Z4|J3KP17	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.V214	ENST00000541347.1	37	c.642	CCDS43069.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1		0.502	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	protein_coding	OTTHUMT00000343613.1	G	NM_001337	-		39307455	-1	no_errors	ENST00000358309	ensembl	human	known	74_37	silent	SNP	0.005	C	C	39307455	G	C	39307455	2	2	224	1	0	0	0	0	0	0	0	1	4077	1161	41	4		4	CX3CR1	3	39307455	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	29588385	39307455	158714975	11	18061											
ABHD10	55347	genome.wustl.edu	37	chr3	111710511	111710521	+	Frame_Shift_Del	DEL	ACTTCTTGTTT	ACTTCTTGTTT	-													agggaaaaagcagacattcaActtcttgtttacactattga					rs200494551		TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	ACTTCTTGTTT	ACTTCTTGTTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr3:111710511_111710521delACTTCTTGTTT	ENST00000273359.3	+	5	891_901	c.864_874delACTTCTTGTTT	c.(862-876)caacttcttgtttacfs	p.LLVY289fs	ABHD10_ENST00000534857.1_Frame_Shift_Del_p.LLVY132fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	289					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						CAGACATTCAACTTCTTGTTTACACTATTGA	0.384																																																	0								ENSG00000144827																																			ABHD10	SO:0001589	frameshift_variant	0				HGNC	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.864_874delACTTCTTGTTT	3.37:g.111710511_111710521delACTTCTTGTTT	ENSP00000273359:p.Leu289fs	Somatic					0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Frame_Shift_Del	DEL							pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.L289fs	ENST00000273359.3	37	c.864_874	CCDS2963.1	3																																																																																			-	NULL		0.384	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	protein_coding	OTTHUMT00000354326.1	ACTTCTTGTTT	NM_018394			111710521	1	no_errors	ENST00000273359	ensembl	human	known	74_37	frame_shift_del	DEL	0.872:1.000:1.000:1.000:1.000:1.000:0.992:1.000:1.000:0.988:1.000	-	-	111710521	ACTTCTTGTTT	-	111710511	7	5	224	1	0	1	0	1	0	0	0	0	74	40	2	0	882	0	ABHD10	3	111710511	Frame_Shift_Del	DEL	ACTTCTTGTTT	TCGA-WK-A8XT-01A-11D-A37C-09	72403056	111710511	86311919	12	18062											
SLC41A3	54946	genome.wustl.edu	37	chr3	125725891	125725891	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgccagttctgagatgcCacccagctctgccttgctct	9	14	3	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr3:125725891C>G	ENST00000315891.6	-	11	1605				SLC41A3_ENST00000383598.2_Missense_Mutation_p.G452R|SLC41A3_ENST00000360370.4_Missense_Mutation_p.G478R|SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000508835.1_Missense_Mutation_p.G361R	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTGAGATGCCACCCAGCTCT	0.547																																																	0								ENSG00000114544						87	87	87					3																	125725891		2203	4300	6503	SLC41A3	SO:0001627	intron_variant	0			-	HGNC		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1366+65G>C	3.37:g.125725891C>G		Somatic	0	49	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	26	49.02	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP							pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase	p.G478R	ENST00000315891.6	37	c.1432	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227945	0.22542	.	.	ENSG00000114544	ENST00000360370;ENST00000383598;ENST00000458524;ENST00000508835	T;T	0.30448	1.53;1.54	3.69	1.53	0.23141	.	.	.	.	.	T	0.17408	0.0418	N	0.22421	0.69	0.09310	N	1	B;B;P	0.42203	0.437;0.177;0.773	B;B;B	0.36766	0.117;0.054;0.232	T	0.09997	-1.0649	9	0.52906	T	0.07	.	6.045	0.19755	0.1793:0.7028:0.0:0.1178	.	361;478;452	B7Z4Y2;E7ENY4;Q96GZ6-7	.;.;.	R	478;452;469;361	ENSP00000353533:G478R;ENSP00000373092:G452R	ENSP00000353533:G478R	G	-	1	0	SLC41A3	127208581	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.255000	0.18333	0.391000	0.25143	0.467000	0.42956	GGC	-	NULL		0.547	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	protein_coding	OTTHUMT00000370886.1	C	NM_017836	-		125725891	-1	no_errors	ENST00000360370	ensembl	human	known	74_37	missense	SNP	0.002	G	G	125725891	C	G	125725891	1	3	224	0	1	0	0	0	0	0	0	0	14639	594	21	4		4	SLC41A3	3	125725891	Intron	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	14015380	125725891	72296539	13	18063											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125876260	125876260	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtccgggagcacctcacActccttctgcagcagcaggt	11	15	2	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr3:125876260A>T	ENST00000393434.2	-	4	803	c.454T>A	c.(454-456)Tgt>Agt	p.C152S	U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.C152S|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.C152S|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.C162S|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000413612.1_5'Flank	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	152	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AGCACCTCACACTCCTTCTGC	0.602																																																	0								ENSG00000144908						102	94	97					3																	125876260		2203	4300	6503	ALDH1L1	SO:0001583	missense	0			-	HGNC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.454T>A	3.37:g.125876260A>T	ENSP00000377083:p.Cys152Ser	Somatic	0	33	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	22	51.11	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.C152S	ENST00000393434.2	37	c.454	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	A	15.33	2.803084	0.50315	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.39	3.21	0.36854	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88051	0.6333	M	0.92649	3.33	0.80722	D	1	P;D;P	0.59767	0.952;0.986;0.873	P;D;P	0.63957	0.842;0.92;0.752	D	0.87757	0.2596	10	0.87932	D	0	.	8.4059	0.32614	0.8246:0.0:0.0:0.1754	.	204;59;152	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	S	162;152;152;152;152;152;152	ENSP00000273450:C162S;ENSP00000420293:C152S;ENSP00000377083:C152S;ENSP00000377081:C152S;ENSP00000418711:C152S;ENSP00000419826:C152S;ENSP00000419955:C152S	ENSP00000273450:C162S	C	-	1	0	ALDH1L1	127358950	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	8.829000	0.92055	0.702000	0.31825	-0.691000	0.03719	TGT	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	protein_coding	OTTHUMT00000354391.1	A	NM_012190	-		125876260	-1	no_errors	ENST00000393434	ensembl	human	known	74_37	missense	SNP	1.000	T	T	125876260	A	T	125876260	3	4	224	1	0	0	0	0	1	0	0	0	494	159	6	5	2334	5	ALDH1L1	3	125876260	Missense_Mutation	SNP	A	TCGA-WK-A8XT-01A-11D-A37C-09	150369	125876260	72146170	14	18064											
LRRC34	151827	genome.wustl.edu	37	chr3	169530222	169530222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccgccagggccgcgcCcggagtactggcctgagtgg	17	14	0	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr3:169530222C>A	ENST00000316515.7	-	1	352	c.76G>T	c.(76-78)Ggc>Tgc	p.G26C	LRRC34_ENST00000522830.1_Intron|LRRC34_ENST00000446859.1_Missense_Mutation_p.G39C|LRRC34_ENST00000522526.2_Missense_Mutation_p.G39C	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	26										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGGGCCGCGCCCGGAGTACTG	0.751																																																	0								ENSG00000171757						2	3	3					3																	169530222		1700	3530	5230	LRRC34	SO:0001583	missense	0			-	HGNC	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.76G>T	3.37:g.169530222C>A	ENSP00000326150:p.Gly26Cys	Somatic	0	9	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	45.45	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G39C	ENST00000316515.7	37	c.115		3	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546584	0.27652	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522526	T;T;T	0.47177	0.95;0.88;0.85	2.45	-1.92	0.07618	.	2.711210	0.01853	U	0.036021	T	0.34890	0.0913	N	0.08118	0	0.09310	N	1	P;P;P	0.45531	0.781;0.86;0.781	B;P;B	0.47470	0.346;0.548;0.346	T	0.24119	-1.0169	10	0.56958	D	0.05	.	6.5136	0.22236	0.0:0.434:0.0:0.566	.	26;39;26	B4DHF2;G5E9T7;Q8IZ02	.;.;LRC34_HUMAN	C	39;26;39	ENSP00000414635:G39C;ENSP00000326150:G26C;ENSP00000429278:G39C	ENSP00000326150:G26C	G	-	1	0	LRRC34	171012916	0.000000	0.05858	0.000000	0.03702	0.357000	0.29423	0.393000	0.20817	-0.544000	0.06232	0.313000	0.20887	GGC	-	NULL		0.751	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	protein_coding		C	NM_153353	-		169530222	-1	no_errors	ENST00000446859	ensembl	human	known	74_37	missense	SNP	0.000	A	A	169530222	C	A	169530222	3	1	224	1	0	0	0	0	1	0	0	0	8991	623	22	3	1345	3	LRRC34	3	169530222	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	43653962	169530222	28492208	15	18065											
RGS12	6002	genome.wustl.edu	37	chr4	3432573	3432573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccagacggtggaggatgaGcacgtggccgagctgaccct	15	11	0	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr4:3432573G>T	ENST00000344733.5	+	17	4909	c.4005G>T	c.(4003-4005)gaG>gaT	p.E1335D	RGS12_ENST00000338806.4_Missense_Mutation_p.E687D|RGS12_ENST00000382788.3_Missense_Mutation_p.E1335D|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.E1335D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1335					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGAGGATGAGCACGTGGCCG	0.687																																																	0								ENSG00000159788						27	32	30					4																	3432573		2200	4297	6497	RGS12	SO:0001583	missense	0			-	HGNC	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4005G>T	4.37:g.3432573G>T	ENSP00000339381:p.Glu1335Asp	Somatic	0	87	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	47	39.74	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP							pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.E1335D	ENST00000344733.5	37	c.4005	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	8.257	0.810355	0.16537	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.41400	1.54;1.53;1.53;1.0	4.61	0.589	0.17452	.	0.408050	0.26293	N	0.025202	T	0.31575	0.0801	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.14805	0.003;0.003;0.007;0.011	B;B;B;B	0.19391	0.017;0.017;0.007;0.025	T	0.07366	-1.0776	10	0.46703	T	0.11	-24.336	6.6828	0.23129	0.162:0.2895:0.5486:0.0	.	677;687;1335;1335	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	D	1335;1335;1335;687	ENSP00000339381:E1335D;ENSP00000338509:E1335D;ENSP00000372238:E1335D;ENSP00000342133:E687D	ENSP00000338509:E1335D	E	+	3	2	RGS12	3402371	0.278000	0.24230	0.012000	0.15200	0.394000	0.30568	0.013000	0.13310	0.064000	0.16427	0.655000	0.94253	GAG	-	NULL		0.687	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	protein_coding	OTTHUMT00000206602.1	G	NM_002926	-		3432573	1	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	SNP	0.664	T	T	3432573	G	T	3432573	3	4	224	1	0	0	0	0	1	0	0	0	13303	962	34	3	4125	3	RGS12	4	3432573	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		3432573	187721703	16	18066											
PDS5A	23244	genome.wustl.edu	37	chr4	39851192	39851192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctctggttaacttgatgTtctctgccatcttcttcata	5	11	5	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr4:39851192T>C	ENST00000303538.8	-	27	3706	c.3167A>G	c.(3166-3168)aAc>aGc	p.N1056S		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TAACTTGATGTTCTCTGCCAT	0.358																																																	0								ENSG00000121892						150	141	144					4																	39851192		1909	4135	6044	PDS5A	SO:0001583	missense	0			-	HGNC	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3167A>G	4.37:g.39851192T>C	ENSP00000303427:p.Asn1056Ser	Somatic	0	87	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	47.46		Missense_Mutation	SNP							superfamily_ARM-type_fold	p.N1056S	ENST00000303538.8	37	c.3167	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269904	0.40095	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.16289	0.015	T	0.51317	-0.8721	8	.	.	.	-14.6888	10.8978	0.47034	0.0:0.0729:0.0:0.9271	.	1056	Q29RF7	PDS5A_HUMAN	S	1056	.	.	N	-	2	0	PDS5A	39527587	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.188000	0.58351	2.112000	0.64535	0.533000	0.62120	AAC	-	NULL		0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	protein_coding	OTTHUMT00000361287.1	T	NM_015200	-		39851192	-1	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39851192	T	C	39851192	3	2	224	1	0	0	0	0	1	0	0	0	11693	1725	60	5	874	5	PDS5A	4	39851192	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09	36418619	39851192	151303084	17	18067											
WDFY3	23001	genome.wustl.edu	37	chr4	85758160	85758160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctccaactgcctcaggCacatgtggaaggtcaaaaaa	9	12	2	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr4:85758160C>T	ENST00000295888.4	-	7	905	c.498G>A	c.(496-498)gtG>gtA	p.V166V	WDFY3_ENST00000322366.6_Silent_p.V166V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	166					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCCTCAGGCACATGTGGAA	0.448																																																	0								ENSG00000163625						93	81	85					4																	85758160		2203	4300	6503	WDFY3	SO:0001819	synonymous_variant	0			-	HGNC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.498G>A	4.37:g.85758160C>T		Somatic	0	89	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	34	52.78	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP							pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V166	ENST00000295888.4	37	c.498	CCDS3609.1	4																																																																																			-	NULL		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	C	NM_014991	-		85758160	-1	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	SNP	1.000	T	T	85758160	C	T	85758160	2	4	224	1	0	0	0	0	0	0	0	1	17277	697	25	2		2	WDFY3	4	85758160	Silent	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	45906968	85758160	105396116	18	18068											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-													ataaccccggcttcgaggccGaggaggaggaggaggaggtg							TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|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 ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0								ENSG00000118762			18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				PKD2	SO:0001651	inframe_deletion	0				HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del	Somatic	0	33	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL							pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			-	NULL		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	GAG	NM_000297			88929176	1	no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	224	1	0	1	0	1	0	0	0	0	11968	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-WK-A8XT-01A-11D-A37C-09	3171014	88929174	102225102	19	18069											
ADCY2	108	genome.wustl.edu	37	chr5	7717343	7717343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaattgatgggattaatGcacagaagtgagtacttctt	10	5	1	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr5:7717343G>T	ENST00000338316.4	+	12	1785	c.1696G>T	c.(1696-1698)Gca>Tca	p.A566S	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.A386S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	566					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGGATTAATGCACAGAAGTG	0.318																																																	0								ENSG00000078295						105	113	111					5																	7717343		2202	4296	6498	ADCY2	SO:0001583	missense	0			-	HGNC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1696G>T	5.37:g.7717343G>T	ENSP00000342952:p.Ala566Ser	Somatic	0	44	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A566S	ENST00000338316.4	37	c.1696	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	7.390	0.630485	0.14322	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.75260	-0.92;-0.92	6.17	6.17	0.99709	.	0.058473	0.64402	D	0.000001	T	0.42131	0.1189	N	0.00661	-1.28	0.44188	D	0.997008	B;B	0.10296	0.003;0.002	B;B	0.18871	0.023;0.003	T	0.54282	-0.8317	10	0.02654	T	1	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	386;566	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	566;399;386	ENSP00000342952:A566S;ENSP00000444803:A386S	ENSP00000342952:A566S	A	+	1	0	ADCY2	7770343	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.643000	0.74334	2.941000	0.99782	0.655000	0.94253	GCA	-	pfam_Adenylate_cyclase-like		0.318	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	G	NM_020546	-		7717343	1	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7717343	G	T	7717343	3	4	224	1	0	0	0	0	1	0	0	0	294	1319	46	3	1742	3	ADCY2	5	7717343	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		7717343	173197917	20	18070											
CDH6	1004	genome.wustl.edu	37	chr5	31323070	31323070	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggcttttgatatcggcacCctgaggaatcctgaagccat	10	11	0	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr5:31323070C>G	ENST00000265071.2	+	12	2293	c.2028C>G	c.(2026-2028)acC>acG	p.T676T		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	676					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATATCGGCACCCTGAGGAATC	0.502																																																	0								ENSG00000113361						84	79	81					5																	31323070		2203	4300	6503	CDH6	SO:0001819	synonymous_variant	0			-	HGNC	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2028C>G	5.37:g.31323070C>G		Somatic	0	64	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	36	48.57	A8K5H5|Q9BWS0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T676	ENST00000265071.2	37	c.2028	CCDS3894.1	5																																																																																			-	pfam_Cadherin_cytoplasmic-dom		0.502	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	protein_coding	OTTHUMT00000207355.2	C	NM_004932	-		31323070	1	no_errors	ENST00000265071	ensembl	human	known	74_37	silent	SNP	1.000	G	G	31323070	C	G	31323070	2	3	224	1	0	0	0	0	0	0	0	1	3116	610	22	4		4	CDH6	5	31323070	Silent	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	23605727	31323070	149592190	21	18071											
PDZD2	23037	genome.wustl.edu	37	chr5	32087892	32087892	+	Frame_Shift_Del	DEL	G	G	-													aggtctccgtcttcccagacGggggacagtggctctcagga					rs72743803	byFrequency	TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr5:32087892delG	ENST00000438447.1	+	20	4726	c.4338delG	c.(4336-4338)acgfs	p.T1446fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.T1446fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1446					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCAGACGGGGGACAGTG	0.657																																																	0								ENSG00000133401						20	22	21					5																	32087892		2202	4300	6502	PDZD2	SO:0001589	frameshift_variant	0				HGNC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4338delG	5.37:g.32087892delG	ENSP00000402033:p.Thr1446fs	Somatic	0	65	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	42	44.74	Q9BXD4	Frame_Shift_Del	DEL							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1448fs	ENST00000438447.1	37	c.4338	CCDS34137.1	5																																																																																			-	NULL		0.657	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	G				32087892	1	no_errors	ENST00000282493	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	32087892	G	-	32087892	7	5	224	1	0	1	0	1	0	0	0	0	11703	1103	39	0	4412	0	PDZD2	5	32087892	Frame_Shift_Del	DEL	G	TCGA-WK-A8XT-01A-11D-A37C-09	764822	32087892	148827368	22	18072											
GDNF	2668	genome.wustl.edu	37	chr5	37834785	37834785	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagggcgcgcggcggcggccGagggagcggtcttcggcggg	23	11	1	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr5:37834785G>C	ENST00000326524.2	-	2	313	c.114C>G	c.(112-114)ctC>ctG	p.L38L	GDNF_ENST00000381826.4_Intron|GDNF_ENST00000427982.1_Silent_p.L55L|GDNF_ENST00000344622.4_Intron|GDNF_ENST00000515058.1_Intron	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	38					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGCGGCGGCCGAGGGAGCGGT	0.756																																																	0								ENSG00000168621						8	11	10					5																	37834785		2036	3994	6030	GDNF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.114C>G	5.37:g.37834785G>C		Somatic	0	71	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	35	49.28	B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP							pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF	p.L38	ENST00000326524.2	37	c.114	CCDS3922.1	5																																																																																			-	pirsf_GDNF		0.756	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDNF	protein_coding	OTTHUMT00000207606.1	G	NM_000514	-		37834785	-1	no_errors	ENST00000326524	ensembl	human	known	74_37	silent	SNP	0.999	C	C	37834785	G	C	37834785	2	2	224	1	0	0	0	0	0	0	0	1	6324	1045	37	4		4	GDNF	5	37834785	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	5746893	37834785	143080475	23	18073											
ZFP57	346171	genome.wustl.edu	37	chr6	29643198	29643198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgggagatggacaaacTctctccactgttcctcttct	8	11	3	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr6:29643198T>C	ENST00000488757.1	-	3	467	c.317A>G	c.(316-318)gAg>gGg	p.E106G	ZFP57_ENST00000376881.3_Missense_Mutation_p.E86G|ZFP57_ENST00000376883.1_Missense_Mutation_p.E86G	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	69					DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATGGACAAACTCTCTCCACTG	0.488																																																	0								ENSG00000204644						275	258	263					6																	29643198		1952	4145	6097	ZFP57	SO:0001583	missense	0			-	HGNC	AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"Zinc fingers, C2H2-type", "-"	18791	protein-coding gene	gene with protein product		612192	"chromosome 6 open reading frame 40", "zinc finger protein 57 homolog (mouse)"	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.317A>G	6.37:g.29643198T>C	ENSP00000418259:p.Glu106Gly	Somatic	0	62	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	37	49.32	B0S894|B0V254|B2RXJ7|Q5SSB1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E106G	ENST00000488757.1	37	c.317	CCDS43436.2	6	.	.	.	.	.	.	.	.	.	.	T	5.083	0.201052	0.09652	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.06294	3.32;3.57;3.57	4.15	-0.703	0.11261	.	1.132320	0.06853	N	0.797699	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.006	T	0.48906	-0.8993	10	0.23302	T	0.38	1.4099	3.7024	0.08387	0.1722:0.0:0.4877:0.3401	.	106;86	Q9NU63-3;Q9NU63-2	.;.	G	106;86;86	ENSP00000418259:E106G;ENSP00000366078:E86G;ENSP00000366080:E86G	ENSP00000366078:E86G	E	-	2	0	ZFP57	29751177	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.286000	0.08399	-0.248000	0.09583	-1.293000	0.01348	GAG	-	pfscan_Krueppel-associated_box		0.488	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP57	protein_coding	OTTHUMT00000355773.1	T	XM_294093	-		29643198	-1	no_errors	ENST00000488757	ensembl	human	known	74_37	missense	SNP	0.000	C	C	29643198	T	C	29643198	3	2	224	1	0	0	0	0	1	0	0	0	17658	1551	54	5	1301	5	ZFP57	6	29643198	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09		29643198	141471869	24	18074											
DNAH8	1769	genome.wustl.edu	37	chr6	38862564	38862564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggaatgttgaccataAaagctgaggagtgcgcttca	13	7	1	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr6:38862564A>G	ENST00000359357.3	+	57	8274	c.8020A>G	c.(8020-8022)Aaa>Gaa	p.K2674E	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2891E|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2638E			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2674					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTGACCATAAAAGCTGAGGA	0.438																																																	0								ENSG00000124721						84	77	80					6																	38862564		2203	4300	6503	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8020A>G	6.37:g.38862564A>G	ENSP00000352312:p.Lys2674Glu	Somatic	0	57	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	48	35.14	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K2674E	ENST00000359357.3	37	c.8020		6	.	.	.	.	.	.	.	.	.	.	A	7.945	0.743718	0.15642	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.35048	1.33;1.33;1.33	5.33	5.33	0.75918	.	0.192865	0.47093	D	0.000253	T	0.07863	0.0197	N	0.20986	0.625	0.32886	D	0.51114	B	0.21753	0.06	B	0.21708	0.036	T	0.11494	-1.0585	10	0.02654	T	1	.	9.7719	0.40595	0.9228:0.0:0.0772:0.0	.	2674	Q96JB1	DYH8_HUMAN	E	2879;2879;2674;2638	ENSP00000333363:K2879E;ENSP00000352312:K2674E;ENSP00000402294:K2638E	ENSP00000333363:K2879E	K	+	1	0	DNAH8	38970542	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	4.987000	0.63857	1.999000	0.58509	0.455000	0.32223	AAA	-	superfamily_P-loop_NTPase		0.438	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	A	NM_001206927	-		38862564	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	0.999	G	G	38862564	A	G	38862564	3	3	224	1	0	0	0	0	1	0	0	0	4609	15	1	5	8238	5	DNAH8	6	38862564	Missense_Mutation	SNP	A	TCGA-WK-A8XT-01A-11D-A37C-09	9219366	38862564	132252503	25	18075											
PKHD1	5314	genome.wustl.edu	37	chr6	51701242	51701242	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttccttcacccggagaatGacttgaacttggccttcacc	7	15	2	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr6:51701242G>A	ENST00000371117.3	-	51	8408	c.8133C>T	c.(8131-8133)gtC>gtT	p.V2711V	PKHD1_ENST00000340994.4_Silent_p.V2711V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2711					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)					CCCGGAGAATGACTTGAACTT	0.408																																																	0								ENSG00000170927						150	126	134					6																	51701242		2203	4300	6503	PKHD1	SO:0001819	synonymous_variant	0			-	HGNC	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.8133C>T	6.37:g.51701242G>A		Somatic	0	59	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.26	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.V2711	ENST00000371117.3	37	c.8133	CCDS4935.1	6																																																																																			-	NULL		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694	-		51701242	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	SNP	0.000	A	A	51701242	G	A	51701242	2	1	224	1	0	0	0	0	0	0	0	1	11973	1277	45	2		2	PKHD1	6	51701242	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	12838678	51701242	119413825	26	18076											
COL12A1	1303	genome.wustl.edu	37	chr6	75862069	75862069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatttgtactcttttggggCcaatgtcaaagacttccaca	7	10	2	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr6:75862069C>A	ENST00000322507.8	-	18	4004	c.3695G>T	c.(3694-3696)gGc>gTc	p.G1232V	COL12A1_ENST00000483888.2_Missense_Mutation_p.G1232V|COL12A1_ENST00000416123.2_Missense_Mutation_p.G1232V|COL12A1_ENST00000345356.6_Missense_Mutation_p.G68V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1232	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						TCTTTTGGGGCCAATGTCAAA	0.423																																																	0								ENSG00000111799						67	63	65					6																	75862069		1888	4114	6002	COL12A1	SO:0001583	missense	0			-	HGNC	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.3695G>T	6.37:g.75862069C>A	ENSP00000325146:p.Gly1232Val	Somatic	0	42	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G1232V	ENST00000322507.8	37	c.3695	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618009	0.87359	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.74	5.74	0.90152	von Willebrand factor, type A (3);	0.116646	0.56097	D	0.000033	D	0.94453	0.8215	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.95074	0.8207	10	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	68;1232	Q99715-2;Q99715	.;COCA1_HUMAN	V	1232;1232;68;1232;1232	ENSP00000325146:G1232V;ENSP00000305147:G68V;ENSP00000412864:G1232V;ENSP00000421216:G1232V	ENSP00000325146:G1232V	G	-	2	0	COL12A1	75918789	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.720000	0.93068	0.650000	0.86243	GGC	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	C	NM_004370	-		75862069	-1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75862069	C	A	75862069	3	1	224	1	0	0	0	0	1	0	0	0	3671	739	26	3	5692	3	COL12A1	6	75862069	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	24160827	75862069	95252998	27	18077											
BEND3	57673	genome.wustl.edu	37	chr6	107391548	107391548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actgcagccccgggagaagtCcacgtcgctgaagagctcgg	14	13	0	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr6:107391548C>A	ENST00000369042.1	-	4	1037	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	BEND3_ENST00000429433.2_Missense_Mutation_p.D283Y			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	283	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGAGAAGTCCACGTCGCTG	0.642																																																	0								ENSG00000178409						18	19	19					6																	107391548		2192	4274	6466	BEND3	SO:0001583	missense	0			-	HGNC	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.847G>T	6.37:g.107391548C>A	ENSP00000358038:p.Asp283Tyr	Somatic	0	70	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	32	49.21	A2RRH2|Q9HCL9	Missense_Mutation	SNP							pfam_BEN_domain	p.D283Y	ENST00000369042.1	37	c.847	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716799	0.68844	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.41400	1.0;1.0	5.32	5.32	0.75619	BEN domain (2);	0.195770	0.45867	D	0.000340	T	0.35682	0.0940	N	0.08118	0	0.58432	D	0.999993	D	0.58620	0.983	P	0.62649	0.905	T	0.49606	-0.8922	10	0.62326	D	0.03	-0.0167	19.1834	0.93632	0.0:1.0:0.0:0.0	.	283	Q5T5X7	BEND3_HUMAN	Y	283	ENSP00000358038:D283Y;ENSP00000411268:D283Y	ENSP00000358038:D283Y	D	-	1	0	BEND3	107498241	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.581000	0.67471	2.774000	0.95407	0.561000	0.74099	GAC	-	pfam_BEN_domain		0.642	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	protein_coding	OTTHUMT00000041686.1	C	NM_020913	-		107391548	-1	no_errors	ENST00000369042	ensembl	human	known	74_37	missense	SNP	1.000	A	A	107391548	C	A	107391548	3	1	224	1	0	0	0	0	1	0	0	0	1399	855	30	3	1643	3	BEND3	6	107391548	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	31529479	107391548	63723519	28	18078											
MOXD1	26002	genome.wustl.edu	37	chr6	132649242	132649242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggataatccaacatgaggtgGataagaaaagccctaaatat	9	6	0	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr6:132649242G>A	ENST00000367963.3	-	6	974	c.856C>T	c.(856-858)Cca>Tca	p.P286S	MOXD1_ENST00000489128.1_5'Flank|MOXD1_ENST00000336749.3_Missense_Mutation_p.P218S	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	286						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACATGAGGTGGATAAGAAAAG	0.408																																																	0								ENSG00000079931						89	85	86					6																	132649242		2203	4300	6503	MOXD1	SO:0001583	missense	0			-	HGNC	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.856C>T	6.37:g.132649242G>A	ENSP00000356940:p.Pro286Ser	Somatic	0	67	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP							pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.P286S	ENST00000367963.3	37	c.856	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720268	0.89205	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.75821	-0.97;-0.97	5.38	5.38	0.77491	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.000000	0.85682	D	0.000000	D	0.90082	0.6902	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92422	0.5946	10	0.87932	D	0	-23.1623	19.4958	0.95072	0.0:0.0:1.0:0.0	.	286;218	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	S	286;218	ENSP00000356940:P286S;ENSP00000336998:P218S	ENSP00000336998:P218S	P	-	1	0	MOXD1	132690935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.185000	0.89704	2.681000	0.91329	0.650000	0.86243	CCA	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase		0.408	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	protein_coding	OTTHUMT00000125837.1	G	NM_015529	-		132649242	-1	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	SNP	1.000	A	A	132649242	G	A	132649242	3	1	224	1	0	0	0	0	1	0	0	0	9722	1174	41	2	1013	2	MOXD1	6	132649242	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	25257694	132649242	38465825	29	18079											
ITGB8	3696	genome.wustl.edu	37	chr7	20420428	20420428	+	Frame_Shift_Del	DEL	G	G	-													caccagaaggaggttttgacGccatgcttcaggcagctgtc							TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr7:20420428delG	ENST00000222573.4	+	5	1459	c.775delG	c.(775-777)gccfs	p.A259fs	ITGB8_ENST00000537992.1_Frame_Shift_Del_p.A124fs	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	259	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.A259T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGTTTTGACGCCATGCTTCA	0.408																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000105855						146	130	135					7																	20420428		2203	4300	6503	ITGB8	SO:0001589	frameshift_variant	0				HGNC		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.775delG	7.37:g.20420428delG	ENSP00000222573:p.Ala259fs	Somatic	0	39	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	29	42.00	A4D133|B4DHD4	Frame_Shift_Del	DEL							pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.A259fs	ENST00000222573.4	37	c.775	CCDS5370.1	7																																																																																			-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu		0.408	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB8	protein_coding	OTTHUMT00000059915.3	G	NM_002214			20420428	1	no_errors	ENST00000222573	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	20420428	G	-	20420428	7	5	224	1	0	1	0	1	0	0	0	0	7903	1087	38	0	793	0	ITGB8	7	20420428	Frame_Shift_Del	DEL	G	TCGA-WK-A8XT-01A-11D-A37C-09		20420428	138718235	30	18080											
GLI3	2737	genome.wustl.edu	37	chr7	42007256	42007256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggggttcagtcgcggaAacattccattcacttgtttt	10	8	2	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr7:42007256A>G	ENST00000395925.3	-	14	2453	c.2369T>C	c.(2368-2370)tTt>tCt	p.F790S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	790					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGTCGCGGAAACATTCCATT	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0								ENSG00000106571						282	277	279					7																	42007256		2203	4300	6503	GLI3	SO:0001583	missense	0	Familial Cancer Database	;	-	HGNC		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2369T>C	7.37:g.42007256A>G	ENSP00000379258:p.Phe790Ser	Somatic	0	93	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	45	50.55	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F790S	ENST00000395925.3	37	c.2369	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343158	0.41498	.	.	ENSG00000106571	ENST00000395925	T	0.12361	2.69	5.58	5.58	0.84498	.	0.181068	0.49916	D	0.000125	T	0.09423	0.0232	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.24835	-1.0149	10	0.21014	T	0.42	.	15.756	0.78025	1.0:0.0:0.0:0.0	.	790	P10071	GLI3_HUMAN	S	790	ENSP00000379258:F790S	ENSP00000379258:F790S	F	-	2	0	GLI3	41973781	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	8.962000	0.93254	2.131000	0.65755	0.533000	0.62120	TTT	-	NULL		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	protein_coding	OTTHUMT00000250806.3	A	NM_000168	-		42007256	-1	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	SNP	1.000	G	G	42007256	A	G	42007256	3	3	224	1	0	0	0	0	1	0	0	0	6441	14	1	5	2381	5	GLI3	7	42007256	Missense_Mutation	SNP	A	TCGA-WK-A8XT-01A-11D-A37C-09	21586828	42007256	117131407	31	18081											
BAZ1B	9031	genome.wustl.edu	37	chr7	72892896	72892896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagaagggttgagagtcaTatactagaatttaagaatag	11	2	1	4			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr7:72892896T>C	ENST00000339594.4	-	7	1233	c.895A>G	c.(895-897)Atg>Gtg	p.M299V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.M299V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	299	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAGAGTCATATACTAGAAT	0.373																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0								ENSG00000009954						61	63	62					7																	72892896		2194	4297	6491	BAZ1B	SO:0001583	missense	0			-	HGNC	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.895A>G	7.37:g.72892896T>C	ENSP00000342434:p.Met299Val	Somatic	0	52	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	36	43.75	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP							pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.M299V	ENST00000339594.4	37	c.895	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	T	7.661	0.684862	0.14973	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.56941	0.43;0.43	5.71	5.71	0.89125	.	0.196377	0.56097	D	0.000036	T	0.34513	0.0900	N	0.17082	0.46	0.39328	D	0.965363	B	0.27351	0.176	B	0.22753	0.041	T	0.25467	-1.0131	10	0.09843	T	0.71	-34.2117	15.1562	0.72743	0.0:0.0:0.0:1.0	.	299	Q9UIG0	BAZ1B_HUMAN	V	299	ENSP00000342434:M299V;ENSP00000385442:M299V	ENSP00000342434:M299V	M	-	1	0	BAZ1B	72530832	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	3.584000	0.53936	2.181000	0.69327	0.482000	0.46254	ATG	-	NULL		0.373	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	protein_coding	OTTHUMT00000252123.4	T	NM_032408	-		72892896	-1	no_errors	ENST00000339594	ensembl	human	known	74_37	missense	SNP	0.993	C	C	72892896	T	C	72892896	3	2	224	1	0	0	0	0	1	0	0	0	1330	1406	49	5	3608	5	BAZ1B	7	72892896	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09	30885640	72892896	86245767	32	18082											
HGF	3082	genome.wustl.edu	37	chr7	81381428	81381428	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacatggcattcaggtTtatttaccttctgaacactg	8	11	2	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr7:81381428T>A	ENST00000222390.5	-	5	852				HGF_ENST00000444829.2_Intron|HGF_ENST00000457544.2_Intron|HGF_ENST00000423064.2_Nonstop_Mutation_p.*211Y|HGF_ENST00000453411.1_Intron	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)						activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCATTCAGGTTTATTTACCTT	0.433																																																	0								ENSG00000019991						120	107	111					7																	81381428		2203	4299	6502	HGF	SO:0001627	intron_variant	0			-	HGNC		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.625+7A>T	7.37:g.81381428T>A		Somatic	0	48	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	36	36.84	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonstop_Mutation	SNP							pfam_Kringle,pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,pfscan_Pan_app,pfscan_Kringle	p.*211Y	ENST00000222390.5	37	c.633	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944739	0.73672	.	.	ENSG00000019991	ENST00000423064	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9918	0.58622	0.0:0.0:0.0:1.0	.	.	.	.	Y	211	.	.	X	-	3	2	HGF	81219364	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.526000	0.60566	2.323000	0.78572	0.533000	0.62120	TAA	-	NULL		0.433	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	protein_coding	OTTHUMT00000253315.2	T	NM_000601	-		81381428	-1	no_errors	ENST00000423064	ensembl	human	known	74_37	nonstop	SNP	1.000	A	A	81381428	T	A	81381428	1	1	224	0	1	0	0	0	0	0	0	0	7087	1848	64	5		5	HGF	7	81381428	Intron	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09	8488532	81381428	77757235	33	18083											
LRRN3	54674	genome.wustl.edu	37	chr7	110762867	110762867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaattcatgtgctacttggCctagctatcactacactagt	7	11	2	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr7:110762867C>T	ENST00000422987.3	+	2	870	c.39C>T	c.(37-39)ggC>ggT	p.G13G	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Silent_p.G13G|LRRN3_ENST00000308478.5_Silent_p.G13G|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	13					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGCTACTTGGCCTAGCTATCA	0.428																																																	0								ENSG00000173114						123	109	114					7																	110762867		2203	4300	6503	LRRN3	SO:0001819	synonymous_variant	0			-	HGNC	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.39C>T	7.37:g.110762867C>T		Somatic	0	51	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O43377|Q6I9V8|Q8IYQ6	Silent	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G13	ENST00000422987.3	37	c.39	CCDS5754.1	7																																																																																			-	NULL		0.428	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	protein_coding	OTTHUMT00000338171.2	C	NM_018334	-		110762867	1	no_errors	ENST00000308478	ensembl	human	known	74_37	silent	SNP	1.000	T	T	110762867	C	T	110762867	2	4	224	1	0	0	0	0	0	0	0	1	9038	726	26	2		2	LRRN3	7	110762867	Silent	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	29381439	110762867	48375796	34	18084											
DOK2	9046	genome.wustl.edu	37	chr8	21769858	21769858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggtgtcccgggggctgCtggcctctccgccggcctcg	15	17	1	0	rs552782288		TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr8:21769858C>T	ENST00000276420.4	-	2	485	c.227G>A	c.(226-228)aGc>aAc	p.S76N	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	76	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)			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)		CCGGGGGCTGCTGGCCTCTCC	0.716																																																	0								ENSG00000147443						12	15	14					8																	21769858		2195	4290	6485	DOK2	SO:0001583	missense	0			-	HGNC	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.227G>A	8.37:g.21769858C>T	ENSP00000276420:p.Ser76Asn	Somatic	0	25	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	Q8N5A4	Missense_Mutation	SNP							pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.S76N	ENST00000276420.4	37	c.227	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597762	0.46318	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.46063	1.89;0.88	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.110505	0.56097	D	0.000022	T	0.33962	0.0881	L	0.46157	1.445	0.80722	D	1	B;B	0.22146	0.031;0.065	B;B	0.25614	0.046;0.062	T	0.10154	-1.0642	10	0.07325	T	0.83	.	12.9739	0.58527	0.0:0.9211:0.0:0.0789	.	76;76	O60496;A8K7W1	DOK2_HUMAN;.	N	76	ENSP00000276420:S76N;ENSP00000429224:S76N	ENSP00000276420:S76N	S	-	2	0	DOK2	21825804	0.737000	0.28175	1.000000	0.80357	0.763000	0.43281	0.799000	0.27028	2.483000	0.83821	0.655000	0.94253	AGC	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.716	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	protein_coding	OTTHUMT00000253735.3	C	NM_003974	-		21769858	-1	no_errors	ENST00000276420	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21769858	C	T	21769858	3	4	224	1	0	0	0	0	1	0	0	0	4699	797	28	2	1027	2	DOK2	8	21769858	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09		21769858	124594164	35	18085											
ZFHX4	79776	genome.wustl.edu	37	chr8	77618128	77618128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtactcctggcacaccagGgcctggaggagacggctcac	14	13	1	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr8:77618128G>C	ENST00000521891.2	+	2	2253	c.1805G>C	c.(1804-1806)gGg>gCg	p.G602A	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G602A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G602A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G602A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	602					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)			GGCACACCAGGGCCTGGAGGA	0.577										HNSCC(33;0.089)																																							0								ENSG00000091656						69	76	74					8																	77618128		2100	4211	6311	ZFHX4	SO:0001583	missense	0			-	HGNC		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.1805G>C	8.37:g.77618128G>C	ENSP00000430497:p.Gly602Ala	Somatic	0	55	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	33	40.35	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G602A	ENST00000521891.2	37	c.1805	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391640	0.62066	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48836	0.8;0.84;0.82;0.81	5.65	5.65	0.86999	.	0.000000	0.38164	U	0.001788	T	0.55146	0.1902	L	0.56769	1.78	0.51767	D	0.999937	D;D;D;P	0.67145	0.982;0.996;0.99;0.95	P;P;P;P	0.58820	0.583;0.846;0.762;0.59	T	0.50145	-0.8862	10	0.02654	T	1	.	15.093	0.72211	0.0:0.0:1.0:0.0	.	602;602;602;602	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	A	602	ENSP00000430497:G602A;ENSP00000399605:G602A;ENSP00000050961:G602A;ENSP00000430848:G602A	ENSP00000050961:G602A	G	+	2	0	ZFHX4	77780683	1.000000	0.71417	0.994000	0.49952	0.700000	0.40528	7.079000	0.76829	2.941000	0.99782	0.655000	0.94253	GGG	-	NULL		0.577	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	G	NM_024721	-		77618128	1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	SNP	1.000	C	C	77618128	G	C	77618128	3	2	224	1	0	0	0	0	1	0	0	0	17642	1232	43	4	1807	4	ZFHX4	8	77618128	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	55848270	77618128	68745894	36	18086											
C9orf68	55064	genome.wustl.edu	37	chr9	4625444	4625444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatattgagagggcgcccgGgcttgcatgcctttgggcag	16	9	0	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr9:4625444G>A	ENST00000454239.2	-	7	797	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000475086.1_Silent_p.A126A|SPATA6L_ENST00000381890.5_Silent_p.A198A|SPATA6L_ENST00000381895.5_Silent_p.A61A			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	184																	AGGGCGCCCGGGCTTGCATGC	0.433																																																	0								ENSG00000106686						68	71	70					9																	4625444		1836	4080	5916	SPATA6L	SO:0001819	synonymous_variant	0			-	HGNC	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.552C>T	9.37:g.4625444G>A		Somatic	0	47	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	31	52.31	B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP							NULL	p.A184	ENST00000454239.2	37	c.552		9																																																																																			-	NULL		0.433	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	protein_coding		G	NM_017985	-		4625444	-1	no_errors	ENST00000454239	ensembl	human	known	74_37	silent	SNP	0.000	A	A	4625444	G	A	4625444	2	1	224	1	0	0	0	0	0	0	0	1	2493	1219	43	2		2	C9orf68	9	4625444	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		4625444	136587987	37	18087											
ANAPC2	29882	genome.wustl.edu	37	chr9	140075277	140075277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactggtgcagcaggcggtCggccagcagcgagcggtact	17	11	0	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr9:140075277C>T	ENST00000323927.2	-	8	1577	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGCAGGCGGTCGGCCAGCAGC	0.647																																																	0								ENSG00000176248						70	59	63					9																	140075277		2203	4300	6503	ANAPC2	SO:0001583	missense	0			-	HGNC	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1573G>A	9.37:g.140075277C>T	ENSP00000314004:p.Asp525Asn	Somatic	0	88	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	48	40.74	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP							pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.D525N	ENST00000323927.2	37	c.1573	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	c	31	5.082470	0.94050	.	.	ENSG00000176248	ENST00000323927	T	0.75050	-0.9	5.41	5.41	0.78517	Cullin, N-terminal (1);Cullin homology (3);	0.044294	0.85682	D	0.000000	T	0.77219	0.4098	M	0.64260	1.97	0.80722	D	1	D;D	0.60575	0.988;0.985	P;B	0.47891	0.56;0.424	T	0.79715	-0.1687	10	0.54805	T	0.06	-36.3914	16.6659	0.85253	0.0:1.0:0.0:0.0	.	525;522	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	N	525	ENSP00000314004:D525N	ENSP00000314004:D525N	D	-	1	0	ANAPC2	139195098	1.000000	0.71417	0.961000	0.40146	0.935000	0.57460	5.543000	0.67225	2.536000	0.85505	0.556000	0.70494	GAC	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.647	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	protein_coding	OTTHUMT00000055315.1	C	NM_013366	-		140075277	-1	no_errors	ENST00000323927	ensembl	human	known	74_37	missense	SNP	0.999	T	T	140075277	C	T	140075277	3	4	224	1	0	0	0	0	1	0	0	0	603	884	31	1	919	1	ANAPC2	9	140075277	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	135449833	140075277	1138154	38	18088											
KCNQ1	3784	genome.wustl.edu	37	chr11	2798237	2798237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccagtccattgggaaGccctcactgttcatctccgt	9	14	3	0	rs397508099		TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr11:2798237G>T	ENST00000155840.5	+	14	1815	c.1707G>T	c.(1705-1707)aaG>aaT	p.K569N	KCNQ1_ENST00000335475.5_Missense_Mutation_p.K442N	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	569					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCATTGGGAAGCCCTCACTGT	0.597																																																	0								ENSG00000053918						250	175	201					11																	2798237		2202	4299	6501	KCNQ1	SO:0001583	missense	0			-	HGNC	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1707G>T	11.37:g.2798237G>T	ENSP00000155840:p.Lys569Asn	Somatic	0	118	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	63	49.60	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K569N	ENST00000155840.5	37	c.1707	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574624	0.65878	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99800	-6.8;-6.8	4.02	4.02	0.46733	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.070588	0.56097	D	0.000037	D	0.99680	0.9880	M	0.83223	2.63	0.51012	D	0.9999	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.72625	0.931;0.959;0.978	D	0.97279	0.9916	10	0.87932	D	0	-28.2666	11.8553	0.52433	0.0:0.0:1.0:0.0	.	442;442;569	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	N	569;442	ENSP00000155840:K569N;ENSP00000334497:K442N	ENSP00000155840:K569N	K	+	3	2	KCNQ1	2754813	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.593000	0.46180	2.251000	0.74343	0.561000	0.74099	AAG	-	pfam_K_chnl_volt-dep_KCNQ_C		0.597	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	protein_coding	OTTHUMT00000027382.2	G	NM_000218	-		2798237	1	no_errors	ENST00000155840	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2798237	G	T	2798237	3	4	224	1	0	0	0	0	1	0	0	0	8084	962	34	3	1770	3	KCNQ1	11	2798237	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		2798237	132208279	39	18089											
FAM160A2	84067	genome.wustl.edu	37	chr11	6244051	6244051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactctcaccttgtgcaagGcaggacccatgacaggcacc	10	14	1	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr11:6244051G>A	ENST00000449352.2	-	5	1276	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	FAM160A2_ENST00000524416.1_Missense_Mutation_p.A338V|FAM160A2_ENST00000265978.4_Missense_Mutation_p.A338V			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	338					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGTGCAAGGCAGGACCCAT	0.547																																																	0								ENSG00000051009						144	149	147					11																	6244051		2201	4296	6497	FAM160A2	SO:0001583	missense	0			-	HGNC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1013C>T	11.37:g.6244051G>A	ENSP00000416918:p.Ala338Val	Somatic	0	34	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP							pfam_RetinoicA-induced_16-like	p.A338V	ENST00000449352.2	37	c.1013	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.166660	0.94768	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.32753	1.44;1.44;1.44	5.43	5.43	0.79202	.	0.114856	0.64402	D	0.000011	T	0.61874	0.2382	M	0.85945	2.785	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.975	D;D;P	0.77557	0.99;0.986;0.719	T	0.67891	-0.5553	10	0.87932	D	0	-29.2259	18.224	0.89911	0.0:0.0:1.0:0.0	.	338;338;338	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	V	338;263;338;338	ENSP00000416918:A338V;ENSP00000265978:A338V;ENSP00000431773:A338V	ENSP00000265978:A338V	A	-	2	0	FAM160A2	6200627	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.642000	0.98461	2.561000	0.86390	0.655000	0.94253	GCC	-	pfam_RetinoicA-induced_16-like		0.547	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	protein_coding	OTTHUMT00000383759.1	G	NM_032127	-		6244051	-1	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6244051	G	A	6244051	3	1	224	1	0	0	0	0	1	0	0	0	5471	1203	42	2	1979	2	FAM160A2	11	6244051	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	3445814	6244051	128762465	40	18090											
TSKU	25987	genome.wustl.edu	37	chr11	76507673	76507673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccccaaggtggccctgcActgcgtagacacccgggatt	12	15	0	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr11:76507673A>G	ENST00000527881.1	+	2	2039	c.1013A>G	c.(1012-1014)cAc>cGc	p.H338R	TSKU_ENST00000333090.4_Missense_Mutation_p.H338R			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	338					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)					GTGGCCCTGCACTGCGTAGAC	0.682																																																	0								ENSG00000182704						9	16	13					11																	76507673		2070	4108	6178	TSKU	SO:0001583	missense	0			-	HGNC	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.1013A>G	11.37:g.76507673A>G	ENSP00000434847:p.His338Arg	Somatic	0	56	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	24	52.94	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H338R	ENST00000527881.1	37	c.1013	CCDS8246.1	11	.	.	.	.	.	.	.	.	.	.	A	8.307	0.821273	0.16678	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.29397	1.57;1.57	4.64	3.42	0.39159	.	0.588760	0.19140	N	0.121710	T	0.16257	0.0391	L	0.27053	0.805	0.24829	N	0.992534	B	0.18610	0.029	B	0.16722	0.016	T	0.07849	-1.0751	10	0.27785	T	0.31	-23.6072	1.5465	0.02566	0.5494:0.1806:0.0964:0.1736	.	338	Q8WUA8	TSK_HUMAN	R	338;306;338	ENSP00000332668:H338R;ENSP00000434847:H338R	ENSP00000332668:H338R	H	+	2	0	TSKU	76185321	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.229000	0.42990	1.857000	0.53885	0.459000	0.35465	CAC	-	NULL		0.682	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSKU	protein_coding	OTTHUMT00000382871.1	A	NM_015516	-		76507673	1	no_errors	ENST00000333090	ensembl	human	known	74_37	missense	SNP	0.999	G	G	76507673	A	G	76507673	3	3	224	1	0	0	0	0	1	0	0	0	16634	159	6	5	1015	5	TSKU	11	76507673	Missense_Mutation	SNP	A	TCGA-WK-A8XT-01A-11D-A37C-09	70263622	76507673	58498843	41	18091											
PAN2	9924	genome.wustl.edu	37	chr12	56726749	56726749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagagcctccaaggccaCtccctctgggtccagctcca	11	16	1	1	rs376838096		TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr12:56726749C>T	ENST00000425394.2	-	2	506	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PAN2_ENST00000548043.1_Missense_Mutation_p.V44M|PAN2_ENST00000257931.5_Missense_Mutation_p.V44M|PAN2_ENST00000440411.3_Missense_Mutation_p.V44M	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCCAAGGCCACTCCCTCTGGG	0.557																																																	0								ENSG00000135473						120	99	106					12																	56726749		2203	4300	6503	PAN2	SO:0001583	missense	0			-	HGNC	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.130G>A	12.37:g.56726749C>T	ENSP00000401721:p.Val44Met	Somatic	0	38	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00		Missense_Mutation	SNP							pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67	p.V44M	ENST00000425394.2	37	c.130	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876536	0.51801	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	4.72	3.67	0.42095	.	0.238157	0.35838	N	0.002959	T	0.04724	0.0128	N	0.22421	0.69	0.31279	N	0.690863	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.14023	0.01;0.004;0.004	T	0.08330	-1.0727	10	0.41790	T	0.15	-13.44	8.4099	0.32638	0.0:0.8593:0.0:0.1407	.	44;44;44	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	M	44	ENSP00000401721:V44M;ENSP00000388231:V44M;ENSP00000257931:V44M;ENSP00000449861:V44M	ENSP00000257931:V44M	V	-	1	0	PAN2	55013016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.537000	0.67186	1.116000	0.41820	0.585000	0.79938	GTG	-	NULL		0.557	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	protein_coding	OTTHUMT00000409024.1	C	NM_014871	-		56726749	-1	no_errors	ENST00000425394	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56726749	C	T	56726749	3	4	224	1	0	0	0	0	1	0	0	0	11416	565	20	2	3578	2	PAN2	12	56726749	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09		56726749	77125146	42	18092											
FGD6	55785	genome.wustl.edu	37	chr12	95604141	95604141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaattttggggtatatgGtactaaatgaatttctaagg	11	2	1	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr12:95604141G>A	ENST00000343958.4	-	2	1142	c.919C>T	c.(919-921)Cca>Tca	p.P307S	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.P307S|FGD6_ENST00000549499.1_Missense_Mutation_p.P307S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	307					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						GGGGTATATGGTACTAAATGA	0.408																																																	0								ENSG00000180263						89	94	92					12																	95604141		2203	4300	6503	FGD6	SO:0001583	missense	0			-	HGNC	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.919C>T	12.37:g.95604141G>A	ENSP00000344446:p.Pro307Ser	Somatic	0	42	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	22	52.17	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP							pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.P307S	ENST00000343958.4	37	c.919	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	G	3.489	-0.104210	0.06967	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68181	-0.21;-0.31;-0.24	5.71	3.86	0.44501	.	0.147641	0.31884	N	0.006918	T	0.61912	0.2385	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.56384	-0.7988	10	0.54805	T	0.06	-4.4956	10.7483	0.46194	0.0679:0.0:0.8003:0.1319	.	307	Q6ZV73	FGD6_HUMAN	S	307	ENSP00000344446:P307S;ENSP00000450342:P307S;ENSP00000449005:P307S	ENSP00000344446:P307S	P	-	1	0	FGD6	94128272	0.949000	0.32298	0.909000	0.35828	0.169000	0.22640	1.053000	0.30442	0.731000	0.32448	-0.258000	0.10820	CCA	-	NULL		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	protein_coding	OTTHUMT00000407600.1	G	NM_018351	-		95604141	-1	no_errors	ENST00000343958	ensembl	human	known	74_37	missense	SNP	0.029	A	A	95604141	G	A	95604141	3	1	224	1	0	0	0	0	1	0	0	0	5839	1261	44	2	3453	2	FGD6	12	95604141	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	38877392	95604141	38247754	43	18093											
UBE3B	89910	genome.wustl.edu	37	chr12	109921780	109921780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattcagaatcaaagaggaTaatgaggtaaaacgataata	8	4	2	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr12:109921780T>C	ENST00000342494.3	+	4	871	c.276T>C	c.(274-276)gaT>gaC	p.D92D	UBE3B_ENST00000280774.5_Silent_p.D92D|UBE3B_ENST00000537063.1_Silent_p.D92D|UBE3B_ENST00000434735.2_Silent_p.D92D|UBE3B_ENST00000340074.5_Silent_p.D92D|UBE3B_ENST00000540230.1_Silent_p.D92D|UBE3B_ENST00000536398.1_Silent_p.D92D	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	92					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCAAAGAGGATAATGAGGTAA	0.323																																																	0								ENSG00000151148						97	97	97					12																	109921780		2203	4300	6503	UBE3B	SO:0001819	synonymous_variant	0			-	HGNC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.276T>C	12.37:g.109921780T>C		Somatic	0	18	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP							pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.D92	ENST00000342494.3	37	c.276	CCDS9129.1	12																																																																																			-	superfamily_P-loop_NTPase		0.323	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	protein_coding	OTTHUMT00000403119.1	T	NM_183415	-		109921780	1	no_errors	ENST00000342494	ensembl	human	known	74_37	silent	SNP	0.957	C	C	109921780	T	C	109921780	2	2	224	1	0	0	0	0	0	0	0	1	16887	1403	49	5		5	UBE3B	12	109921780	Silent	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09	14317639	109921780	23930115	44	18094											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72190515	72190515	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcctaggagtttttacCctcgccagggcgctactagc	11	13	0	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr14:72190515C>G	ENST00000555818.1	+	16	4771	c.4423C>G	c.(4423-4425)Cct>Gct	p.P1475A	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1454A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1454A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P929A|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1475	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGTTTTTACCCTCGCCAGGG	0.507																																																	0								ENSG00000197555						119	119	119					14																	72190515		2203	4300	6503	SIPA1L1	SO:0001583	missense	0			-	HGNC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4423C>G	14.37:g.72190515C>G	ENSP00000450832:p.Pro1475Ala	Somatic	0	51	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	35	35.19	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P1475A	ENST00000555818.1	37	c.4423	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349101	0.61183	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.84370	-1.01;-1.01;-1.01;-1.84	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	L	0.36672	1.1	0.80722	D	1	B;D;B;P;D	0.76494	0.347;0.999;0.11;0.607;0.994	B;D;B;B;D	0.78314	0.223;0.991;0.109;0.223;0.912	D	0.88967	0.3398	10	0.49607	T	0.09	-18.8553	19.8379	0.96666	0.0:1.0:0.0:0.0	.	929;1475;929;1454;1475	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	A	1454;1475;1454;929	ENSP00000370630:P1454A;ENSP00000450832:P1475A;ENSP00000351352:P1454A;ENSP00000440682:P929A	ENSP00000351352:P1475A	P	+	1	0	SIPA1L1	71260268	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.201000	0.77847	2.765000	0.95021	0.655000	0.94253	CCT	-	NULL		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	C	NM_015556	-		72190515	1	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	SNP	1.000	G	G	72190515	C	G	72190515	3	3	224	1	0	0	0	0	1	0	0	0	14337	623	22	4	4481	4	SIPA1L1	14	72190515	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09		72190515	35159025	45	18095											
SERPINA4	5267	genome.wustl.edu	37	chr14	95030338	95030338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccacaccaacttctaCgacactgtgggcacaatcca	5	16	2	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr14:95030338C>T	ENST00000557004.1	+	2	940	c.519C>T	c.(517-519)taC>taT	p.Y173Y	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.Y173Y|SERPINA4_ENST00000555095.1_Silent_p.Y173Y			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	173					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAACTTCTACGACACTGTGG	0.488																																																	0								ENSG00000100665						178	162	167					14																	95030338		2203	4300	6503	SERPINA4	SO:0001819	synonymous_variant	0			-	HGNC	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.519C>T	14.37:g.95030338C>T		Somatic	0	54	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q53XB5|Q86TR9|Q96BZ5	Silent	SNP							pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Y173	ENST00000557004.1	37	c.519	CCDS9927.1	14																																																																																			-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.488	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	protein_coding	OTTHUMT00000410718.1	C	NM_006215	-		95030338	1	no_errors	ENST00000298841	ensembl	human	known	74_37	silent	SNP	0.000	T	T	95030338	C	T	95030338	2	4	224	1	0	0	0	0	0	0	0	1	14099	547	19	1		1	SERPINA4	14	95030338	Silent	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	22839823	95030338	12319202	46	18096											
AHNAK2	113146	genome.wustl.edu	37	chr14	105414679	105414679	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggtcagcggaagggGgctgaacgctgaggtcagtg	17	10	2	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr14:105414679G>C	ENST00000333244.5	-	7	7228	c.7109C>G	c.(7108-7110)cCc>cGc	p.P2370R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2370						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCGGAAGGGGGCTGAACGCT	0.657																																																	0								ENSG00000185567						125	139	134					14																	105414679		1965	4152	6117	AHNAK2	SO:0001583	missense	0			-	HGNC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7109C>G	14.37:g.105414679G>C	ENSP00000353114:p.Pro2370Arg	Somatic	0	123	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	43	48.19	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P2370R	ENST00000333244.5	37	c.7109	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	4.256	0.046585	0.08243	.	.	ENSG00000185567	ENST00000333244	T	0.00873	5.59	3.79	1.36	0.22044	.	.	.	.	.	T	0.01592	0.0051	L	0.51422	1.61	0.09310	N	1	P	0.48016	0.904	P	0.51582	0.674	T	0.44544	-0.9321	9	0.12430	T	0.62	.	6.0601	0.19832	0.6237:0.0:0.3763:0.0	.	2370	Q8IVF2	AHNK2_HUMAN	R	2370	ENSP00000353114:P2370R	ENSP00000353114:P2370R	P	-	2	0	AHNAK2	104485724	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.880000	0.39628	-0.013000	0.14199	-0.350000	0.07774	CCC	-	NULL		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	G	NM_138420	-		105414679	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	SNP	0.000	C	C	105414679	G	C	105414679	3	2	224	1	0	0	0	0	1	0	0	0	415	1232	43	4	10282	4	AHNAK2	14	105414679	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	10384341	105414679	1934861	47	18097											
LINGO1	84894	genome.wustl.edu	37	chr15	77908078	77908078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaaagcgcttgcggtgGcacagcacagcgcggtcctg	14	14	0	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr15:77908078G>A	ENST00000355300.6	-	2	345	c.171C>T	c.(169-171)tgC>tgT	p.C57C	LINGO1_ENST00000561030.1_Silent_p.C51C	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	57	LRRNT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCTTGCGGTGGCACAGCACAG	0.682																																																	0								ENSG00000169783						15	17	16					15																	77908078		2114	4207	6321	LINGO1	SO:0001819	synonymous_variant	0			-	HGNC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.171C>T	15.37:g.77908078G>A		Somatic	0	25	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP							pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.C57	ENST00000355300.6	37	c.171	CCDS45313.1	15																																																																																			-	smart_LRR-contain_N		0.682	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	protein_coding	OTTHUMT00000419546.1	G	NM_032808	-		77908078	-1	no_errors	ENST00000355300	ensembl	human	known	74_37	silent	SNP	1.000	A	A	77908078	G	A	77908078	2	1	224	1	0	0	0	0	0	0	0	1	8816	1195	42	2		2	LINGO1	15	77908078	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		77908078	24623314	48	18098											
SLC43A2	124935	genome.wustl.edu	37	chr17	1516506	1516506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactgttaatgaggtgaaggTcatacacatcccaccaaagc	8	11	1	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr17:1516506T>A	ENST00000301335.5	-	5	572	c.484A>T	c.(484-486)Acc>Tcc	p.T162S	SLC43A2_ENST00000382147.4_Missense_Mutation_p.T162S|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Missense_Mutation_p.T162S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	162					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAGGTGAAGGTCATACACATC	0.468																																																	0								ENSG00000167703						89	76	81					17																	1516506		2203	4300	6503	SLC43A2	SO:0001583	missense	0			-	HGNC	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.484A>T	17.37:g.1516506T>A	ENSP00000301335:p.Thr162Ser	Somatic	0	26	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T162S	ENST00000301335.5	37	c.484	CCDS11006.1	17	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128054	0.77549	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.58652	0.32;0.32	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.104805	0.64402	D	0.000004	T	0.73225	0.3560	M	0.73962	2.25	0.49130	D	0.99975	D;D;D	0.69078	0.996;0.997;0.989	P;D;P	0.69142	0.877;0.962;0.898	T	0.73414	-0.3990	10	0.37606	T	0.19	-22.9086	14.2055	0.65732	0.0:0.0:0.0:1.0	.	162;162;162	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	S	162	ENSP00000301335:T162S;ENSP00000371582:T162S	ENSP00000301335:T162S	T	-	1	0	SLC43A2	1463256	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.352000	0.79404	2.210000	0.71456	0.460000	0.39030	ACC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.468	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	protein_coding	OTTHUMT00000206717.4	T	NM_152346	-		1516506	-1	no_errors	ENST00000382147	ensembl	human	known	74_37	missense	SNP	1.000	A	A	1516506	T	A	1516506	3	1	224	1	0	0	0	0	1	0	0	0	14641	1667	58	5	1265	5	SLC43A2	17	1516506	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09		1516506	79678704	49	18099											
KIAA0664	23277	genome.wustl.edu	37	chr17	2599458	2599458	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctccctcaccaagcCagggatctggcaggagagca	11	16	2	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr17:2599458C>G	ENST00000570628.2	-	13	2374	c.2269G>C	c.(2269-2271)Ggc>Cgc	p.G757R	CLUH_ENST00000435359.1_Missense_Mutation_p.G757R|CLUH_ENST00000538975.1_Missense_Mutation_p.G757R			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	757					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CTCACCAAGCCAGGGATCTGG	0.637																																																	0								ENSG00000132361						16	20	18					17																	2599458		1926	4115	6041	CLUH	SO:0001583	missense	0			-	HGNC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2269G>C	17.37:g.2599458C>G	ENSP00000458986:p.Gly757Arg	Somatic	0	133	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	73	48.23	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP							superfamily_GSKIP_dom	p.G757R	ENST00000570628.2	37	c.2269	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908799	0.52439	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.79653	-1.29;-1.29	5.66	5.66	0.87406	.	0.148317	0.64402	D	0.000011	T	0.72961	0.3526	L	0.41236	1.265	0.41973	D	0.990769	B;B	0.23058	0.079;0.079	B;B	0.25987	0.065;0.065	T	0.66760	-0.5842	10	0.17832	T	0.49	.	13.6636	0.62382	0.1544:0.8455:0.0:0.0	.	757;758	O75153;C9J6D7	K0664_HUMAN;.	R	757;758;757	ENSP00000388872:G757R;ENSP00000439628:G757R	ENSP00000320468:G758R	G	-	1	0	KIAA0664	2546208	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.766000	0.62279	2.673000	0.90976	0.591000	0.81541	GGC	-	NULL		0.637	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	protein_coding	OTTHUMT00000437807.2	C	NM_015229	-		2599458	-1	no_errors	ENST00000435359	ensembl	human	known	74_37	missense	SNP	0.997	G	G	2599458	C	G	2599458	3	3	224	1	0	0	0	0	1	0	0	0	8191	594	21	4	1716	4	KIAA0664	17	2599458	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	1082952	2599458	78595752	50	18100											
TNK1	8711	genome.wustl.edu	37	chr17	7287395	7287395	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcctgcggcagctggCgggagccatggcgtacctgg	15	14	1	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr17:7287395C>G	ENST00000576812.1	+	6	1058	c.689C>G	c.(688-690)gCg>gGg	p.A230G	TNK1_ENST00000311668.2_Missense_Mutation_p.A230G|TNK1_ENST00000570896.1_Missense_Mutation_p.A230G	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CGGCAGCTGGCGGGAGCCATG	0.736																																																	0								ENSG00000174292						3	5	5					17																	7287395		1707	3689	5396	TNK1	SO:0001583	missense	0			-	HGNC	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.689C>G	17.37:g.7287395C>G	ENSP00000459799:p.Ala230Gly	Somatic	0	43	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	33	44.07		Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A230G	ENST00000576812.1	37	c.689	CCDS58510.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345365	0.82022	.	.	ENSG00000174292	ENST00000311668	D	0.89875	-2.58	4.48	4.48	0.54585	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000217	D	0.94739	0.8302	M	0.87617	2.895	0.46609	D	0.999123	D;D	0.89917	1.0;1.0	D;D	0.76071	0.978;0.987	D	0.95353	0.8448	10	0.72032	D	0.01	.	15.0215	0.71635	0.0:1.0:0.0:0.0	.	230;230	Q13470-2;Q13470	.;TNK1_HUMAN	G	230	ENSP00000312309:A230G	ENSP00000312309:A230G	A	+	2	0	TNK1	7228119	0.019000	0.18553	0.987000	0.45799	0.581000	0.36288	2.839000	0.48207	2.480000	0.83734	0.561000	0.74099	GCG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.736	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	protein_coding	OTTHUMT00000440832.2	C	NM_003985	-		7287395	1	no_errors	ENST00000576812	ensembl	human	known	74_37	missense	SNP	1.000	G	G	7287395	C	G	7287395	3	3	224	1	0	0	0	0	1	0	0	0	16324	768	27	4	707	4	TNK1	17	7287395	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	4687937	7287395	73907815	51	18101											
MYH4	4622	genome.wustl.edu	37	chr17	10357193	10357193	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgcatcagccaaggCatctgcttcctaaagggaga	9	12	3	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr17:10357193C>G	ENST00000255381.2	-	23	2811	c.2701G>C	c.(2701-2703)Gcc>Ccc	p.A901P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	901					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						TCAGCCAAGGCATCTGCTTCC	0.373																																																	0								ENSG00000264424						200	191	194					17																	10357193		2203	4300	6503	MYH4	SO:0001583	missense	0			-	HGNC		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.2701G>C	17.37:g.10357193C>G	ENSP00000255381:p.Ala901Pro	Somatic	0	69	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	63	37.00		Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A901P	ENST00000255381.2	37	c.2701	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928539	0.18131	.	.	ENSG00000141048	ENST00000255381	D	0.93366	-3.21	5.43	0.966	0.19667	.	0.467264	0.15531	U	0.257502	D	0.88607	0.6482	L	0.43923	1.385	0.24665	N	0.993447	B	0.20052	0.041	B	0.21546	0.035	T	0.79955	-0.1585	10	0.62326	D	0.03	.	7.2945	0.26385	0.0:0.6672:0.1197:0.2131	.	901	Q9Y623	MYH4_HUMAN	P	901	ENSP00000255381:A901P	ENSP00000255381:A901P	A	-	1	0	MYH4	10297918	0.000000	0.05858	0.981000	0.43875	0.359000	0.29487	0.333000	0.19768	0.039000	0.15632	-1.058000	0.02302	GCC	-	NULL		0.373	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	C	NM_017533	-		10357193	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	SNP	0.899	G	G	10357193	C	G	10357193	3	3	224	1	0	0	0	0	1	0	0	0	10039	710	25	4	3190	4	MYH4	17	10357193	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	3069798	10357193	70838017	52	18102											
AOC3	8639	genome.wustl.edu	37	chr17	41008501	41008501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaccccctagcttgcctGccccaggctgctgcctgtgc	10	18	1	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr17:41008501G>A	ENST00000308423.2	+	4	2386	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L	AOC3_ENST00000591562.1_Silent_p.L199L	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	742					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TAGCTTGCCTGCCCCAGGCTG	0.642																																					NSCLC(3;192 220 10664 11501 16477)												0								ENSG00000131471						11	12	12					17																	41008501		2168	4239	6407	AOC3	SO:0001819	synonymous_variant	0			-	HGNC	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2226G>A	17.37:g.41008501G>A		Somatic	0	64	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	33	45.00	B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP							pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L742	ENST00000308423.2	37	c.2226	CCDS11444.1	17																																																																																			-	superfamily_Cu_amine_oxidase_C		0.642	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	protein_coding	OTTHUMT00000452444.1	G	NM_003734	-		41008501	1	no_errors	ENST00000308423	ensembl	human	known	74_37	silent	SNP	0.000	A	A	41008501	G	A	41008501	2	1	224	1	0	0	0	0	0	0	0	1	728	1306	46	2		2	AOC3	17	41008501	Silent	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09	30651308	41008501	40186709	53	18103											
RIOK3	8780	genome.wustl.edu	37	chr18	21044211	21044211	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgaaaagtgcatccttatGaagacagcgatagctctgaa	9	8	1	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr18:21044211G>T	ENST00000339486.3	+	4	984	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	RIOK3_ENST00000577501.1_Nonsense_Mutation_p.E123*|RIOK3_ENST00000581585.1_Nonsense_Mutation_p.E107*	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	123					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCATCCTTATGAAGACAGCGA	0.398																																																	0								ENSG00000101782						88	87	88					18																	21044211		2203	4300	6503	RIOK3	SO:0001587	stop_gained	0			-	HGNC	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"sudD (suppressor of bimD6, Aspergillus nidulans) homolog", "RIO kinase 3 (yeast)"	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.367G>T	18.37:g.21044211G>T	ENSP00000341874:p.Glu123*	Somatic	0	33	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8IXN9	Nonsense_Mutation	SNP							pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3	p.E123*	ENST00000339486.3	37	c.367	CCDS11877.1	18	.	.	.	.	.	.	.	.	.	.	G	42	9.676090	0.99236	.	.	ENSG00000101782	ENST00000339486	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.008	18.9785	0.92747	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000341874:E123X	E	+	1	0	RIOK3	19298209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.753000	0.91637	2.765000	0.95021	0.650000	0.86243	GAA	-	pirsf_Ser/Thr_kinase_Rio3		0.398	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK3	protein_coding	OTTHUMT00000254756.1	G	NM_003831	-		21044211	1	no_errors	ENST00000339486	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	21044211	G	T	21044211	4	4	224	1	0	0	0	0	0	1	0	0	13387	1291	45	3	381	3	RIOK3	18	21044211	Nonsense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		21044211	57033037	54	18104											
RNF165	494470	genome.wustl.edu	37	chr18	44030349	44030349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacacacctccgccgtaCgggagagctatgaggtatgt	13	11	0	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr18:44030349C>T	ENST00000269439.7	+	5	757	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RNF165_ENST00000543885.1_Missense_Mutation_p.R44W	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	236							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTCCGCCGTACGGGAGAGCTA	0.522																																																	0								ENSG00000141622						85	76	79					18																	44030349		2203	4300	6503	RNF165	SO:0001583	missense	0			-	HGNC	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.706C>T	18.37:g.44030349C>T	ENSP00000269439:p.Arg236Trp	Somatic	0	67	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	B3KVD1	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.R236W	ENST00000269439.7	37	c.706	CCDS32823.1	18	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487852	0.64074	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.24908	1.96;1.83	5.28	-2.75	0.05914	.	0.071157	0.56097	D	0.000039	T	0.46034	0.1372	M	0.68952	2.095	0.50813	D	0.99989	D	0.89917	1.0	D	0.71414	0.973	T	0.58109	-0.7694	10	0.72032	D	0.01	.	18.7982	0.92005	0.724:0.276:0.0:0.0	.	236	Q6ZSG1	RN165_HUMAN	W	236;44	ENSP00000269439:R236W;ENSP00000444285:R44W	ENSP00000269439:R236W	R	+	1	2	RNF165	42284347	0.989000	0.36119	0.745000	0.31077	0.818000	0.46254	0.299000	0.19138	-0.214000	0.10078	-0.518000	0.04402	CGG	-	NULL		0.522	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF165	protein_coding	OTTHUMT00000445358.1	C	NM_152470	-		44030349	1	no_errors	ENST00000269439	ensembl	human	known	74_37	missense	SNP	0.990	T	T	44030349	C	T	44030349	3	4	224	1	0	0	0	0	1	0	0	0	13464	527	19	1	724	1	RNF165	18	44030349	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	22986138	44030349	34046899	55	18105											
PDE4A	5141	genome.wustl.edu	37	chr19	10561315	10561315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccccacccctgtctgcaaGgccacgctgtcaggtagcta	11	16	2	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr19:10561315G>T	ENST00000352831.6	+	5	767	c.657G>T	c.(655-657)aaG>aaT	p.K219N	PDE4A_ENST00000293683.5_Missense_Mutation_p.K193N|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000380702.2_Missense_Mutation_p.K197N|PDE4A_ENST00000592685.1_Missense_Mutation_p.K197N|PDE4A_ENST00000440014.2_Missense_Mutation_p.K158N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	219					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGTCTGCAAGGCCACGCTGT	0.677																																																	0								ENSG00000065989						12	15	14					19																	10561315		1566	3578	5144	PDE4A	SO:0001583	missense	0			-	HGNC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.657G>T	19.37:g.10561315G>T	ENSP00000270474:p.Lys219Asn	Somatic	0	56	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	34	41.38	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.K219N	ENST00000352831.6	37	c.657	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858466	0.51376	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.31	4.29	2.17	0.27698	.	1.308090	0.05151	N	0.496096	T	0.77308	0.4111	L	0.56769	1.78	0.36552	D	0.871931	D;B;B	0.89917	1.0;0.021;0.024	D;B;B	0.83275	0.996;0.021;0.009	T	0.65475	-0.6159	10	0.39692	T	0.17	.	6.0836	0.19954	0.3179:0.0:0.6821:0.0	.	158;193;219	P27815-6;P27815-2;P27815	.;.;PDE4A_HUMAN	N	197;219;193;158	ENSP00000370078:K197N;ENSP00000270474:K219N;ENSP00000293683:K193N;ENSP00000394754:K158N	ENSP00000293683:K193N	K	+	3	2	PDE4A	10422315	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.088000	0.30877	0.466000	0.27193	0.491000	0.48974	AAG	-	NULL		0.677	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	protein_coding	OTTHUMT00000451244.1	G		-		10561315	1	no_errors	ENST00000352831	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10561315	G	T	10561315	3	4	224	1	0	0	0	0	1	0	0	0	11641	991	35	3	1062	3	PDE4A	19	10561315	Missense_Mutation	SNP	G	TCGA-WK-A8XT-01A-11D-A37C-09		10561315	48567668	56	18106											
NWD1	284434	genome.wustl.edu	37	chr19	16860069	16860069	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaagactgcgcccttAggatggtggaccggctcgcg	14	12	0	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr19:16860069A>C	ENST00000552788.1	+	4	616	c.616A>C	c.(616-618)Agg>Cgg	p.R206R	NWD1_ENST00000379808.3_Silent_p.R206R|NWD1_ENST00000524140.2_Silent_p.R206R|NWD1_ENST00000549814.1_Silent_p.R206R|NWD1_ENST00000339803.6_Silent_p.R71R|NWD1_ENST00000523826.1_5'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	206							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCGCCCTTAGGATGGTGGA	0.592																																																	0								ENSG00000188039						95	76	82					19																	16860069		2203	4300	6503	NWD1	SO:0001819	synonymous_variant	0			-	HGNC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.616A>C	19.37:g.16860069A>C		Somatic	0	45	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	28	46.15	C9J021|Q68CT3	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R206	ENST00000552788.1	37	c.616		19																																																																																			-	NULL		0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	protein_coding	OTTHUMT00000403569.1	A	NM_001007525	-		16860069	1	no_errors	ENST00000379808	ensembl	human	known	74_37	silent	SNP	0.000	C	C	16860069	A	C	16860069	2	2	224	1	0	0	0	0	0	0	0	1	10783	411	15	5		5	NWD1	19	16860069	Silent	SNP	A	TCGA-WK-A8XT-01A-11D-A37C-09	6298754	16860069	42268914	57	18107											
EML2	24139	genome.wustl.edu	37	chr19	46137656	46137656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatagcacggctacggaggCcacaaagtacactatctccc	9	13	1	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr19:46137656C>A	ENST00000245925.3	-	4	303	c.253G>T	c.(253-255)Gcc>Tcc	p.A85S	EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Missense_Mutation_p.A232S|EML2_ENST00000589876.1_Missense_Mutation_p.A85S|EML2_ENST00000587152.1_Missense_Mutation_p.A286S	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	85	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCTACGGAGGCCACAAAGTAC	0.592																																																	0								ENSG00000125746						86	59	68					19																	46137656		2203	4300	6503	EML2	SO:0001583	missense	0			-	HGNC	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.253G>T	19.37:g.46137656C>A	ENSP00000245925:p.Ala85Ser	Somatic	0	117	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	67	46.40	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP							pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A286S	ENST00000245925.3	37	c.856	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153400	0.78114	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.56776	0.44;0.44;0.44	4.74	4.74	0.60224	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	H	0.95079	3.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.951;0.998;0.999;1.0	T	0.81393	-0.0953	10	0.25106	T	0.35	-30.1418	15.2541	0.73571	0.0:1.0:0.0:0.0	.	85;251;232;243;85	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	S	232;85;286;243	ENSP00000442365:A232S;ENSP00000245925:A85S;ENSP00000382503:A243S	ENSP00000245925:A85S	A	-	1	0	EML2	50829496	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	7.253000	0.78320	2.475000	0.83589	0.462000	0.41574	GCC	-	pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam		0.592	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	protein_coding	OTTHUMT00000459608.1	C	NM_012155	-		46137656	-1	no_errors	ENST00000587152	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46137656	C	A	46137656	3	1	224	1	0	0	0	0	1	0	0	0	5099	739	26	3	1760	3	EML2	19	46137656	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	29277587	46137656	12991327	58	18108											
JAG1	182	genome.wustl.edu	37	chr20	10625797	10625797	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcataaagttacctatgtTacaggttgttccttcccagc	9	10	0	0			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr20:10625797T>G	ENST00000254958.5	-	17	2736	c.2221A>C	c.(2221-2223)Aac>Cac	p.N741H	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.N582H	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	741	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTACCTATGTTACAGGTTGTT	0.557									Alagille Syndrome																																								0								ENSG00000101384						99	83	88					20																	10625797		2203	4300	6503	JAG1	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2221A>C	20.37:g.10625797T>G	ENSP00000254958:p.Asn741His	Somatic	0	43	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	24	51.02	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.N741H	ENST00000254958.5	37	c.2221	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837059	0.32421	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.85861	-2.04;-2.04	5.85	4.71	0.59529	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.130123	0.64402	D	0.000002	T	0.78991	0.4371	L	0.42245	1.32	0.53005	D	0.999964	B	0.19706	0.038	B	0.18561	0.022	T	0.71133	-0.4681	10	0.22706	T	0.39	.	12.0788	0.53659	0.1291:0.0:0.0:0.8709	.	741	P78504	JAG1_HUMAN	H	741;582	ENSP00000254958:N741H;ENSP00000389519:N582H	ENSP00000254958:N741H	N	-	1	0	JAG1	10573797	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	8.040000	0.89188	0.982000	0.38575	0.533000	0.62120	AAC	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.557	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		T	NM_000214	-		10625797	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	missense	SNP	1.000	G	G	10625797	T	G	10625797	3	3	224	1	0	0	0	0	1	0	0	0	7936	1754	61	5	1475	5	JAG1	20	10625797	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09		10625797	52399723	59	18109											
UBE2C	11065	genome.wustl.edu	37	chr20	44444191	44444191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatgccaggtatatgaagaCctgaggtataagctctcgct	10	8	1	3			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chr20:44444191C>A	ENST00000356455.4	+	4	348	c.228C>A	c.(226-228)gaC>gaA	p.D76E	UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Missense_Mutation_p.D37E|UBE2C_ENST00000405520.1_Missense_Mutation_p.D37E|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000352551.5_Missense_Mutation_p.D47E	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	76					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TATATGAAGACCTGAGGTATA	0.542																																																	0								ENSG00000175063						91	88	89					20																	44444191		2203	4300	6503	UBE2C	SO:0001583	missense	0			-	HGNC	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"Ubiquitin-conjugating enzymes E2"	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.228C>A	20.37:g.44444191C>A	ENSP00000348838:p.Asp76Glu	Somatic	0	59	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17	A6NP33|E1P5N7|G3XAB7	Missense_Mutation	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D76E	ENST00000356455.4	37	c.228	CCDS13370.1	20	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651833	0.47362	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000352551;ENST00000372568	T;T;T;T	0.72615	1.17;1.17;-0.67;1.17	4.77	3.81	0.43845	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.212210	0.49916	D	0.000126	T	0.58409	0.2120	N	0.26162	0.8	0.34850	D	0.741542	B;B	0.20164	0.042;0.001	B;B	0.27500	0.08;0.005	T	0.67461	-0.5665	10	0.72032	D	0.01	-35.8932	11.0888	0.48104	0.0:0.9073:0.0:0.0927	.	47;76	A6NP33;O00762	.;UBE2C_HUMAN	E	76;37;47;37	ENSP00000348838:D76E;ENSP00000385878:D37E;ENSP00000333975:D47E;ENSP00000361649:D37E	ENSP00000333975:D47E	D	+	3	2	UBE2C	43877598	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.348000	0.20031	2.486000	0.83907	0.555000	0.69702	GAC	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.542	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2C	protein_coding	OTTHUMT00000080309.2	C	NM_007019	-		44444191	1	no_errors	ENST00000356455	ensembl	human	known	74_37	missense	SNP	1.000	A	A	44444191	C	A	44444191	3	1	224	1	0	0	0	0	1	0	0	0	16853	506	18	3	393	3	UBE2C	20	44444191	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	33818394	44444191	18581329	60	18110											
ACSL4	2182	genome.wustl.edu	37	chrX	108887384	108887384	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgggcttaatcgaacCttgattggaatttcaaatcg	10	8	2	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chrX:108887384C>G	ENST00000469796.2	-	16	2406	c.2010G>C	c.(2008-2010)aaG>aaC	p.K670N	ACSL4_ENST00000348502.6_Missense_Mutation_p.K629N|ACSL4_ENST00000340800.2_Missense_Mutation_p.K670N			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	670					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TTAATCGAACCTTGATTGGAA	0.458																																					Pancreas(188;358 2127 38547 41466 45492)												0								ENSG00000068366						91	79	83					X																	108887384		2203	4300	6503	ACSL4	SO:0001583	missense	0			-	HGNC	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.2010G>C	X.37:g.108887384C>G	ENSP00000419171:p.Lys670Asn	Somatic	0	100	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	57	50.00	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.K670N	ENST00000469796.2	37	c.2010	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915113	0.52546	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.16743	2.32;2.32;2.32	5.49	0.384	0.16244	.	0.051053	0.85682	D	0.000000	T	0.35451	0.0932	M	0.73753	2.245	0.48040	D	0.999574	D	0.63046	0.992	D	0.68039	0.955	T	0.04427	-1.0952	10	0.42905	T	0.14	-14.0331	11.5506	0.50719	0.0:0.5791:0.0:0.4209	.	670	O60488	ACSL4_HUMAN	N	629;670;670	ENSP00000262835:K629N;ENSP00000419171:K670N;ENSP00000339787:K670N	ENSP00000339787:K670N	K	-	3	2	ACSL4	108774040	0.997000	0.39634	0.937000	0.37676	0.958000	0.62258	0.498000	0.22530	-0.046000	0.13446	-0.191000	0.12829	AAG	-	NULL		0.458	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	protein_coding	OTTHUMT00000358155.2	C	NM_004458	-		108887384	-1	no_errors	ENST00000340800	ensembl	human	known	74_37	missense	SNP	0.999	G	G	108887384	C	G	108887384	3	3	224	1	0	0	0	0	1	0	0	0	179	680	24	4	129	4	ACSL4	23	108887384	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09		108887384	46383176	61	18111											
MAGEA11	4110	genome.wustl.edu	37	chrX	148797280	148797280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtttttagagaacaggCcaacctggaggacaggagtc	13	8	1	1			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chrX:148797280C>T	ENST00000355220.5	+	4	311	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MAGEA11_ENST00000333104.4_Missense_Mutation_p.A41V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGAGAACAGGCCAACCTGGAG	0.512																																																	0								ENSG00000185247						112	106	108					X																	148797280		2203	4300	6503	MAGEA11	SO:0001583	missense	0			-	HGNC		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.209C>T	X.37:g.148797280C>T	ENSP00000347358:p.Ala70Val	Somatic	0	37	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A70V	ENST00000355220.5	37	c.209	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	8.223	0.803008	0.16397	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03242	4.0;4.37;4.32	0.88	0.88	0.19161	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	D;D	0.58620	0.983;0.971	P;B	0.45558	0.485;0.291	T	0.51725	-0.8669	8	0.27785	T	0.31	.	.	.	.	.	41;70	G5E962;P43364	.;MAGAB_HUMAN	V	41;41;70	ENSP00000391496:A41V;ENSP00000328177:A41V;ENSP00000347358:A70V	ENSP00000328177:A41V	A	+	2	0	MAGEA11	148577125	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.392000	0.02523	0.709000	0.31976	0.436000	0.28706	GCC	-	NULL		0.512	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	protein_coding	OTTHUMT00000058725.4	C	NM_005366	-		148797280	1	no_errors	ENST00000355220	ensembl	human	known	74_37	missense	SNP	0.002	T	T	148797280	C	T	148797280	3	4	224	1	0	0	0	0	1	0	0	0	9167	739	26	2	232	2	MAGEA11	23	148797280	Missense_Mutation	SNP	C	TCGA-WK-A8XT-01A-11D-A37C-09	39909896	148797280	6473280	62	18112											
HCFC1	3054	genome.wustl.edu	37	chrX	153224895	153224895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatggtgaccaatggagTtcctgttgtagcctgaggac	13	9	0	2			TCGA-WK-A8XT-01A-11D-A37C-09	TCGA-WK-A8XT-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77c2c8cd-1275-4cb5-84f4-753622c380d2	9664ca55-37f1-47af-a918-25eba2554c04	g.chrX:153224895T>C	ENST00000310441.7	-	9	2458	c.1492A>G	c.(1492-1494)Act>Gct	p.T498A	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.T429A|HCFC1_ENST00000369984.4_Missense_Mutation_p.T498A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	498					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)					ACCAATGGAGTTCCTGTTGTA	0.607																																																	0								ENSG00000172534						78	84	82					X																	153224895		2131	4207	6338	HCFC1	SO:0001583	missense	0			-	HGNC		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.1492A>G	X.37:g.153224895T>C	ENSP00000309555:p.Thr498Ala	Somatic	0	83	0		0.662507313356077				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	29	59.46	Q6P4G5	Missense_Mutation	SNP							pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.T498A	ENST00000310441.7	37	c.1492	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233688	0.58886	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.02944	4.1;4.1;4.13	5.55	1.69	0.24217	Fibronectin, type III (1);	0.205916	0.50627	D	0.000102	T	0.02494	0.0076	N	0.08118	0	0.35618	D	0.809165	D	0.53151	0.958	P	0.55011	0.766	T	0.60682	-0.7215	10	0.32370	T	0.25	.	2.8245	0.05481	0.147:0.0824:0.1496:0.6209	.	498	P51610	HCFC1_HUMAN	A	498;498;429	ENSP00000309555:T498A;ENSP00000359001:T498A;ENSP00000346174:T429A	ENSP00000309555:T498A	T	-	1	0	HCFC1	152878089	1.000000	0.71417	0.780000	0.31762	0.973000	0.67179	2.182000	0.42556	0.193000	0.20303	0.441000	0.28932	ACT	-	smart_Fibronectin_type3		0.607	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	T	NM_005334	-		153224895	-1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	SNP	0.991	C	C	153224895	T	C	153224895	3	2	224	1	0	0	0	0	1	0	0	0	6993	1725	60	5	4687	5	HCFC1	23	153224895	Missense_Mutation	SNP	T	TCGA-WK-A8XT-01A-11D-A37C-09	4427615	153224895	2045665	63	18113											
TMEM82	388595	genome.wustl.edu	37	chr1	16073516	16073516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctggtgtctcgtgggCgtccgcaccctgcttgacct	13	14	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:16073516C>T	ENST00000375782.1	+	5	1050	c.912C>T	c.(910-912)ggC>ggT	p.G304G	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	304						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|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;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTCGTGGGCGTCCGCACCC	0.632																																																	0								ENSG00000162460						100	90	94					1																	16073516		2203	4300	6503	TMEM82	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.912C>T	1.37:g.16073516C>T		Somatic	0	31	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RP27|Q5VVD4	Silent	SNP							NULL	p.G304	ENST00000375782.1	37	c.912	CCDS30608.1	1																																																																																			-	NULL		0.632	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM82	protein_coding	OTTHUMT00000008471.2	C	NM_001013641	rs150729040		16073516	1	no_errors	ENST00000375782	ensembl	human	known	74_37	silent	SNP	0.000	T	T	16073516	C	T	16073516	2	4	225	1	0	0	0	0	0	0	0	1	16213	755	27	1		1	TMEM82	1	16073516	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		16073516	233177105	1	18114											
ZMYM4	9202	genome.wustl.edu	37	chr1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A													gtttgtcaacatatgaactgINSaaaaaaaaacctattgttac							TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																																	0								ENSG00000146463																																			ZMYM4	SO:0001589	frameshift_variant	0				HGNC	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs	Somatic	0	25	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS							pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.P430fs	ENST00000314607.6	37	c.1281_1282	CCDS389.1	1																																																																																			-	NULL		0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	protein_coding	OTTHUMT00000012207.3	-	NM_005095			35846960	1	no_errors	ENST00000314607	ensembl	human	known	74_37	frame_shift_ins	INS	0.987:1.000	A	A	35846960	-	A	35846959	7	5	225	1	0	1	1	0	0	0	0	0	17709	1277	45	0	1311	0	ZMYM4	1	35846959	Frame_Shift_Ins	INS	-	TCGA-WK-A8XX-01A-11D-A37C-09	19773443	35846959	213403662	2	18115											
MACF1	23499	genome.wustl.edu	37	chr1	39798401	39798401	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagttccagttttcttctcaGaacaaagaatatcccgatcg	7	10	2	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:39798401G>A	ENST00000372915.3	+	36	6243	c.6156G>A	c.(6154-6156)caG>caA	p.Q2052Q	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.Q487Q|MACF1_ENST00000564288.1_Silent_p.Q2047Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.Q2084Q|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2052					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCTTCTCAGAACAAAGAAT	0.438																																																	0								ENSG00000127603						70	73	72					1																	39798401		2203	4300	6503	MACF1	SO:0001819	synonymous_variant	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6156G>A	1.37:g.39798401G>A		Somatic	0	13	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	5	54.55	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q2084	ENST00000372915.3	37	c.6252		1																																																																																			-	superfamily_RNaseH-like_dom		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-		39798401	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	silent	SNP	0.003	A	A	39798401	G	A	39798401	2	1	225	1	0	0	0	0	0	0	0	1	9146	933	33	2		2	MACF1	1	39798401	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	3951442	39798401	209452220	3	18116											
WDR65	149465	genome.wustl.edu	37	chr1	43650876	43650876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctatgaacagatggtggCggccagtagccatagccaga	12	10	0	3	rs368874977		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:43650876C>T	ENST00000372492.4	+	5	1142	c.818C>T	c.(817-819)gCg>gTg	p.A273V	WDR65_ENST00000528956.1_Missense_Mutation_p.A273V	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		273										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGATGGTGGCGGCCAGTAGC	0.478																																																	0								ENSG00000243710	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	116	116	116		818,818,818	-10.3	0	1		116	0,8600		0,0,4300	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	273/699,273/699,273/699	43650876	1,13005	2203	4300	6503	WDR65	SO:0001583	missense	0			-	HGNC																												ENST00000372492.4:c.818C>T	1.37:g.43650876C>T	ENSP00000361570:p.Ala273Val	Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	40	14.89	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A273V	ENST00000372492.4	37	c.818		1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975362	0.34848	2.27E-4	0.0	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.37411	1.2;1.26	5.53	-10.3	0.00346	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	2.347010	0.01159	N	0.006586	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.001;0.022	B;B	0.12156	0.001;0.007	T	0.08764	-1.0706	10	0.25751	T	0.34	.	6.2819	0.21011	0.3186:0.2905:0.0:0.3909	.	273;273	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	V	273	ENSP00000361570:A273V;ENSP00000435310:A273V	ENSP00000361570:A273V	A	+	2	0	WDR65	43423463	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.472000	0.06623	-1.458000	0.01916	-0.229000	0.12294	GCG	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom		0.478	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	protein_coding	OTTHUMT00000384325.1	C		-		43650876	1	no_errors	ENST00000528956	ensembl	human	known	74_37	missense	SNP	0.000	T	T	43650876	C	T	43650876	3	4	225	1	0	0	0	0	1	0	0	0	17323	768	27	1	832	1	WDR65	1	43650876	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	3852475	43650876	205599745	4	18117											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52744179	52744179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagactatgctgtggaagAgaaaccatcacagatttcag	9	8	3	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:52744179A>G	ENST00000371591.1	+	8	2893	c.2762A>G	c.(2761-2763)gAg>gGg	p.E921G	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E921G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E862G	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	921					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCTGTGGAAGAGAAACCATCA	0.363																																																	0								ENSG00000157077						125	124	124					1																	52744179		2203	4300	6503	ZFYVE9	SO:0001583	missense	0			-	HGNC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2762A>G	1.37:g.52744179A>G	ENSP00000360647:p.Glu921Gly	Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	35	46.97	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP							pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E921G	ENST00000371591.1	37	c.2762	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406401	0.83230	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.50277	0.85;0.75;0.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.65815	0.993;0.995	D;D	0.67103	0.938;0.949	T	0.71027	-0.4711	10	0.87932	D	0	.	15.3345	0.74241	1.0:0.0:0.0:0.0	.	862;921	O95405-2;O95405	.;ZFYV9_HUMAN	G	862;921;921	ENSP00000349737:E862G;ENSP00000287727:E921G;ENSP00000360647:E921G	ENSP00000287727:E921G	E	+	2	0	ZFYVE9	52516767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.650000	0.91073	2.205000	0.71048	0.482000	0.46254	GAG	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	A	NM_007324	-		52744179	1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	SNP	1.000	G	G	52744179	A	G	52744179	3	3	225	1	0	0	0	0	1	0	0	0	17678	304	11	5	2799	5	ZFYVE9	1	52744179	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	9093303	52744179	196506442	5	18118											
C1orf198	84886	genome.wustl.edu	37	chr1	231004075	231004075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcctgctgcgcgggcgGcagccgcgcccactcgggcc	15	19	0	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:231004075G>A	ENST00000366663.5	-	1	324	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S	C1orf198_ENST00000470540.1_Missense_Mutation_p.P24S|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	62						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGCGCGGGCGGCAGCCGCGCC	0.701																																																	0								ENSG00000119280						18	22	21					1																	231004075		2196	4298	6494	C1orf198	SO:0001583	missense	0			-	HGNC	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.184C>T	1.37:g.231004075G>A	ENSP00000355623:p.Pro62Ser	Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP							NULL	p.P62S	ENST00000366663.5	37	c.184	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.187749	0.38609	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	T;T	0.27402	1.69;1.67	3.83	2.9	0.33743	.	0.369054	0.24725	U	0.036108	T	0.18341	0.0440	N	0.17474	0.49	0.80722	D	1	B	0.28713	0.22	B	0.33196	0.159	T	0.03000	-1.1084	10	0.07644	T	0.81	.	12.935	0.58309	0.0:0.1649:0.8351:0.0	.	62	Q9H425	CA198_HUMAN	S	62;24;19	ENSP00000355623:P62S;ENSP00000428172:P24S	ENSP00000355623:P62S	P	-	1	0	C1orf198	229070698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.570000	0.53834	0.774000	0.33427	0.457000	0.33378	CCG	-	NULL		0.701	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	protein_coding	OTTHUMT00000092236.2	G	NM_032800	-		231004075	-1	no_errors	ENST00000366663	ensembl	human	known	74_37	missense	SNP	1.000	A	A	231004075	G	A	231004075	3	1	225	1	0	0	0	0	1	0	0	0	2028	1203	42	2	815	2	C1orf198	1	231004075	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	178259896	231004075	18246546	6	18119											
PCNXL2	80003	genome.wustl.edu	37	chr1	233121872	233121872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagccctggctgaggggCccatcacgatgttgacgctg	15	12	1	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:233121872C>T	ENST00000258229.9	-	33	6440	c.6206G>A	c.(6205-6207)gGc>gAc	p.G2069D	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G721D	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2069						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCTGAGGGGCCCATCACGAT	0.657																																																	0								ENSG00000135749						12	15	14					1																	233121872		2049	4162	6211	PCNXL2	SO:0001583	missense	0			-	HGNC	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6206G>A	1.37:g.233121872C>T	ENSP00000258229:p.Gly2069Asp	Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP							pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.G2069D	ENST00000258229.9	37	c.6206	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767591	0.90020	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.84	5.71	5.71	0.89125	.	0.127041	0.53938	D	0.000057	T	0.51787	0.1695	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.984	T	0.40776	-0.9545	10	0.42905	T	0.14	.	19.855	0.96755	0.0:1.0:0.0:0.0	.	2069;721	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	D	721;2069	ENSP00000340759:G721D;ENSP00000258229:G2069D	ENSP00000258229:G2069D	G	-	2	0	PCNXL2	231188495	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.429000	0.80309	2.691000	0.91804	0.561000	0.74099	GGC	-	NULL		0.657	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	C	NM_014801	-		233121872	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	SNP	1.000	T	T	233121872	C	T	233121872	3	4	225	1	0	0	0	0	1	0	0	0	11594	739	26	2	215	2	PCNXL2	1	233121872	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	2117797	233121872	16128749	7	18120											
C2orf16	84226	genome.wustl.edu	37	chr2	27802045	27802045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatcaagtctttcccggGcagacaacacaatgtctggg	9	12	4	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:27802045G>A	ENST00000408964.2	+	1	2657	c.2606G>A	c.(2605-2607)gGc>gAc	p.G869D	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	869						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTTCCCGGGCAGACAACAC	0.478																																																	0								ENSG00000221843						56	61	59					2																	27802045		2086	4229	6315	C2orf16	SO:0001583	missense	0			-	HGNC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2606G>A	2.37:g.27802045G>A	ENSP00000386190:p.Gly869Asp	Somatic	0	23	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP							NULL	p.G869D	ENST00000408964.2	37	c.2606	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054656	0.36277	.	.	ENSG00000221843	ENST00000408964	T	0.08458	3.09	5.51	4.62	0.57501	.	.	.	.	.	T	0.17789	0.0427	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.05178	-1.0901	9	0.72032	D	0.01	.	10.7548	0.46230	0.0909:0.0:0.9091:0.0	.	869	Q68DN1	CB016_HUMAN	D	869	ENSP00000386190:G869D	ENSP00000386190:G869D	G	+	2	0	C2orf16	27655549	0.926000	0.31397	0.802000	0.32245	0.017000	0.09413	3.212000	0.51145	2.581000	0.87130	0.591000	0.81541	GGC	-	NULL		0.478	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	protein_coding	OTTHUMT00000353292.1	G	NM_032266	-		27802045	1	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	SNP	0.179	A	A	27802045	G	A	27802045	3	1	225	1	0	0	0	0	1	0	0	0	2159	1203	42	2	2608	2	C2orf16	2	27802045	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		27802045	215397328	8	18121											
LRPPRC	10128	genome.wustl.edu	37	chr2	44175301	44175301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagctttccaggagattaCgaatgcctctgtagatattt	10	7	1	2	rs373011028		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:44175301C>T	ENST00000260665.7	-	18	1937	c.1880G>A	c.(1879-1881)cGt>cAt	p.R627H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	627					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGAGATTACGAATGCCTCT	0.368																																																	0								ENSG00000138095	C	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	94	99	97		1880	4.7	1	2		97	0,8600		0,0,4300	no	missense	LRPPRC	NM_133259.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	627/1395	44175301	1,13003	2202	4300	6502	LRPPRC	SO:0001583	missense	0			-	HGNC	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1880G>A	2.37:g.44175301C>T	ENSP00000260665:p.Arg627His	Somatic	0	30	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP							pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.R627H	ENST00000260665.7	37	c.1880	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764531	0.31228	2.27E-4	0.0	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.58060	0.36	5.61	4.73	0.59995	.	0.165679	0.52532	D	0.000075	T	0.51702	0.1690	M	0.74258	2.255	0.80722	D	1	P;B	0.35433	0.501;0.271	B;B	0.29942	0.109;0.024	T	0.55296	-0.8163	10	0.40728	T	0.16	-7.8474	14.934	0.70938	0.0:0.9309:0.0:0.0691	.	527;627	F5H4J6;P42704	.;LPPRC_HUMAN	H	527;627	ENSP00000260665:R627H	ENSP00000260665:R627H	R	-	2	0	LRPPRC	44028805	0.995000	0.38212	0.994000	0.49952	0.980000	0.70556	2.161000	0.42358	1.504000	0.48704	0.655000	0.94253	CGT	-	NULL		0.368	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	protein_coding	OTTHUMT00000327823.1	C	NM_133259	-		44175301	-1	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44175301	C	T	44175301	3	4	225	1	0	0	0	0	1	0	0	0	8967	536	19	1	2388	1	LRPPRC	2	44175301	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	16373256	44175301	199024072	9	18122											
PLEK	5341	genome.wustl.edu	37	chr2	68620322	68620322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaaaactggaaagtgaGgaagttcatcttgagagaag	13	3	2	3	rs531564877		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:68620322G>T	ENST00000234313.7	+	7	970	c.791G>T	c.(790-792)aGg>aTg	p.R264M		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	264	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGGAAAGTGAGGAAGTTCATC	0.428																																																	0								ENSG00000115956						185	167	173					2																	68620322		2203	4300	6503	PLEK	SO:0001583	missense	0			-	HGNC	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.791G>T	2.37:g.68620322G>T	ENSP00000234313:p.Arg264Met	Somatic	0	41	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.R264M	ENST00000234313.7	37	c.791	CCDS1887.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.173719	0.94807	.	.	ENSG00000115956	ENST00000234313	T	0.48522	0.81	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.87465	0.2410	10	0.87932	D	0	.	19.6065	0.95583	0.0:0.0:1.0:0.0	.	282;264	Q59GZ2;P08567	.;PLEK_HUMAN	M	264	ENSP00000234313:R264M	ENSP00000234313:R264M	R	+	2	0	PLEK	68473826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.405000	0.97313	2.744000	0.94065	0.561000	0.74099	AGG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.428	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	protein_coding	OTTHUMT00000251755.1	G	NM_002664	-		68620322	1	no_errors	ENST00000234313	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68620322	G	T	68620322	3	4	225	1	0	0	0	0	1	0	0	0	12055	1000	35	3	817	3	PLEK	2	68620322	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	24445021	68620322	174579051	10	18123											
GGCX	2677	genome.wustl.edu	37	chr2	85779538	85779538	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgctccccttgcccaCctctgctggaagcggtcatt	8	17	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:85779538C>T	ENST00000233838.4	-	10	1520		c.e10+1		GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Splice_Site	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CCCTTGCCCACCTCTGCTGGA	0.483											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000115486						97	99	99					2																	85779538		2203	4300	6503	GGCX	SO:0001630	splice_region_variant	0			-	HGNC		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1439+1G>A	2.37:g.85779538C>T		Somatic	0	48	0	1239	0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DMC5|E9PEE1|Q14415|Q6GU45	Splice_Site	SNP							-	e10+1	ENST00000233838.4	37	c.1439+1	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212772	0.79352	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGCX	85633049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.059000	0.76684	2.824000	0.97209	0.655000	0.94253	.	-	-		0.483	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	protein_coding	OTTHUMT00000252490.3	C	NM_000821	-	Intron	85779538	-1	no_errors	ENST00000233838	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	85779538	C	T	85779538	5	4	225	1	0	0	0	0	0	0	1	0	6358	521	18	2	860	2	GGCX	2	85779538	Splice_Site	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	17159216	85779538	157419835	11	18124											
RANBP2	5903	genome.wustl.edu	37	chr2	109368152	109368152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtactctgattcacagaAaagcagtgtaagtagtaaaa	8	5	2	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:109368152A>G	ENST00000283195.6	+	11	1750	c.1624A>G	c.(1624-1626)Aaa>Gaa	p.K542E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	542					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTCACAGAAAAGCAGTGTA	0.403																																																	0								ENSG00000153201						20	22	22					2																	109368152		975	2109	3084	RANBP2	SO:0001583	missense	0			-	HGNC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1624A>G	2.37:g.109368152A>G	ENSP00000283195:p.Lys542Glu	Somatic	0	74	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.29	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP							pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.K542E	ENST00000283195.6	37	c.1624	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836811	0.50951	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.52295	0.67	5.25	5.25	0.73442	.	.	.	.	.	T	0.43144	0.1234	M	0.63428	1.95	0.25504	N	0.987525	P	0.49090	0.919	B	0.36092	0.217	T	0.49908	-0.8889	9	0.59425	D	0.04	-25.5292	12.0375	0.53433	0.8559:0.1441:0.0:0.0	.	542	P49792	RBP2_HUMAN	E	542	ENSP00000283195:K542E	ENSP00000283195:K542E	K	+	1	0	RANBP2	108734584	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.857000	0.62939	2.102000	0.63906	0.528000	0.53228	AAA	-	NULL		0.403	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	protein_coding	OTTHUMT00000253594.1	A	NM_006267	-		109368152	1	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	SNP	1.000	G	G	109368152	A	G	109368152	3	3	225	1	0	0	0	0	1	0	0	0	13036	15	1	5	1666	5	RANBP2	2	109368152	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	23588614	109368152	133831221	12	18125											
CASP8	841	genome.wustl.edu	37	chr2	202139626	202139626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaggggaggagttgtgtGgggtaatgacaatctcggac	17	5	1	1	rs577264458		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:202139626G>T	ENST00000432109.2	+	7	799	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W	CASP8_ENST00000392258.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000358485.4_Missense_Mutation_p.G263W|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.G189W|CASP8_ENST00000264275.5_Missense_Mutation_p.G221W|CASP8_ENST00000264274.9_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	204					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGAGTTGTGTGGGGTAATGAC	0.413										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0								ENSG00000064012						141	127	132					2																	202139626		2203	4300	6503	CASP8	SO:0001583	missense	0			-	HGNC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.610G>T	2.37:g.202139626G>T	ENSP00000412523:p.Gly204Trp	Somatic	0	44	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP							pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.G263W	ENST00000432109.2	37	c.787	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748426	0.49257	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.46063	4.36;4.38;4.35;0.88;4.36;4.36	3.7	-0.968	0.10313	DEATH-like (1);	7739.210000	0.00166	N	0.000000	T	0.31389	0.0795	N	0.14661	0.345	0.09310	N	1	B;D;B;P;B;B	0.61080	0.062;0.989;0.012;0.86;0.007;0.034	B;P;B;B;B;B	0.45681	0.015;0.49;0.015;0.23;0.012;0.015	T	0.30090	-0.9990	10	0.66056	D	0.02	.	6.903	0.24293	0.5807:0.0:0.4193:0.0	.	204;189;263;204;189;221	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	W	189;204;221;86;263;189;189	ENSP00000376091:G189W;ENSP00000412523:G204W;ENSP00000264275:G221W;ENSP00000391709:G86W;ENSP00000351273:G263W;ENSP00000325722:G189W	ENSP00000264275:G221W	G	+	1	0	CASP8	201847871	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	-0.341000	0.07811	-0.208000	0.10171	0.205000	0.17691	GGG	-	superfamily_DEATH-like_dom		0.413	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	protein_coding	OTTHUMT00000336853.2	G	NM_001228	-		202139626	1	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	SNP	0.000	T	T	202139626	G	T	202139626	3	4	225	1	0	0	0	0	1	0	0	0	2679	1348	47	3	909	3	CASP8	2	202139626	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	92771474	202139626	41059747	13	18126											
BARD1	580	genome.wustl.edu	37	chr2	215645861	215645861	+	Frame_Shift_Del	DEL	G	G	-													gaggactggagataacagatGgttggctacagaaggatacc					rs151325889		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:215645861delG	ENST00000260947.4	-	4	871	c.737delC	c.(736-738)ccafs	p.P246fs	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Frame_Shift_Del_p.P102fs	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	246					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GATAACAGATGGTTGGCTACA	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0								ENSG00000138376						64	66	65					2																	215645861		2203	4299	6502	BARD1	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		HGNC		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.737delC	2.37:g.215645861delG	ENSP00000260947:p.Pro246fs	Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.P246fs	ENST00000260947.4	37	c.737	CCDS2397.1	2																																																																																			-	NULL		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	protein_coding	OTTHUMT00000256602.1	G	NM_000465			215645861	-1	no_errors	ENST00000260947	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	215645861	G	-	215645861	7	5	225	1	0	1	0	1	0	0	0	0	1312	1348	47	0	1628	0	BARD1	2	215645861	Frame_Shift_Del	DEL	G	TCGA-WK-A8XX-01A-11D-A37C-09	13506235	215645861	27553512	14	18127											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217332668	217332668	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtcattgtcaaatgcagtGaatatatcttggacctactg	8	7	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:217332668G>T	ENST00000357276.4	+	14	2473	c.2143G>T	c.(2143-2145)Gaa>Taa	p.E715*	SMARCAL1_ENST00000358207.5_Splice_Site_p.E715*	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	715					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAAATGCAGTGAATATATCTT	0.363									Schimke Immuno-Osseous Dysplasia																																								0								ENSG00000138375						153	146	148					2																	217332668		2203	4300	6503	SMARCAL1	SO:0001630	splice_region_variant	0	Familial Cancer Database	SIOD	-	HGNC	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2142-1G>T	2.37:g.217332668G>T		Somatic	0	17	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP							pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E715*	ENST00000357276.4	37	c.2143	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.193393	0.98699	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	.	.	.	4.76	4.76	0.60689	.	0.051263	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.7682	16.9465	0.86231	0.0:0.0:1.0:0.0	.	.	.	.	X	715;715;557	.	ENSP00000349823:E715X	E	+	1	0	SMARCAL1	217040913	1.000000	0.71417	0.982000	0.44146	0.422000	0.31414	9.063000	0.93927	2.472000	0.83506	0.655000	0.94253	GAA	-	superfamily_P-loop_NTPase		0.363	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	G		-	Nonsense_Mutation	217332668	1	no_errors	ENST00000357276	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	217332668	G	T	217332668	5	4	225	1	0	0	0	0	0	0	1	0	14781	1304	45	3	2189	3	SMARCAL1	2	217332668	Splice_Site	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	1686807	217332668	25866705	15	18128											
CHPF	79586	genome.wustl.edu	37	chr2	220404162	220404162	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggccagctgggttcgggaGccgaggccctcaagcacgct	15	13	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:220404162G>T	ENST00000243776.6	-	4	2519	c.2271C>A	c.(2269-2271)ggC>ggA	p.G757G	CHPF_ENST00000535926.1_Silent_p.G595G	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	757					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGTTCGGGAGCCGAGGCCCT	0.687																																																	0								ENSG00000123989						41	36	38					2																	220404162		2203	4299	6502	CHPF	SO:0001819	synonymous_variant	0			-	HGNC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2271C>A	2.37:g.220404162G>T		Somatic	0	62	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP							pfam_Chond_GalNAc	p.G757	ENST00000243776.6	37	c.2271	CCDS2443.1	2																																																																																			-	pfam_Chond_GalNAc		0.687	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	protein_coding	OTTHUMT00000130268.1	G	NM_024536	-		220404162	-1	no_errors	ENST00000243776	ensembl	human	known	74_37	silent	SNP	1.000	T	T	220404162	G	T	220404162	2	4	225	1	0	0	0	0	0	0	0	1	3370	958	34	3		3	CHPF	2	220404162	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	3071494	220404162	22795211	16	18129											
INPP5D	3635	genome.wustl.edu	37	chr2	234106746	234106746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctccctgcagggcccCtccgtgcagtggctccagca	11	17	0	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:234106746C>T	ENST00000359570.5	+	27	2663	c.2663C>T	c.(2662-2664)cCt>cTt	p.P888L	INPP5D_ENST00000450745.1_Missense_Mutation_p.P652L|INPP5D_ENST00000455936.2_Missense_Mutation_p.P652L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	900					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCAGGGCCCCTCCGTGCAGT	0.597																																					NSCLC(82;1215 1426 16163 20348 41018)												0								ENSG00000168918						16	18	17					2																	234106746		2003	4159	6162	INPP5D	SO:0001583	missense	0			-	HGNC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2663C>T	2.37:g.234106746C>T	ENSP00000352575:p.Pro888Leu	Somatic	0	43	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	19.05	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.P888L	ENST00000359570.5	37	c.2663		2	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194341	0.22037	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.96365	-3.94;-3.99;-3.99;-3.99;-3.99;-3.99	5.02	3.1	0.35709	.	0.266379	0.37178	N	0.002207	D	0.90858	0.7128	.	.	.	0.20703	N	0.999864	P;P	0.41848	0.763;0.651	B;B	0.31101	0.124;0.086	D	0.85268	0.1054	9	0.52906	T	0.07	.	8.2606	0.31781	0.1527:0.7637:0.0:0.0836	.	899;900	Q92835-2;Q92835	.;SHIP1_HUMAN	L	888;652;652;521;521;521;22	ENSP00000352575:P888L;ENSP00000407916:P652L;ENSP00000404610:P652L;ENSP00000400151:P521L;ENSP00000397421:P521L;ENSP00000405338:P521L	ENSP00000352575:P888L	P	+	2	0	INPP5D	233771485	0.001000	0.12720	0.526000	0.27913	0.261000	0.26267	0.606000	0.24194	1.232000	0.43678	0.655000	0.94253	CCT	-	NULL		0.597	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	protein_coding		C	NM_001017915	-		234106746	1	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	SNP	0.193	T	T	234106746	C	T	234106746	3	4	225	1	0	0	0	0	1	0	0	0	7758	681	24	2	2305	2	INPP5D	2	234106746	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	13702584	234106746	9092627	17	18130											
CHL1	10752	genome.wustl.edu	37	chr3	424203	424203	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagagcctggaaggtgGgaggaactgaccagagtcca	15	7	0	4			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr3:424203G>T	ENST00000256509.2	+	18	2667	c.2025G>T	c.(2023-2025)tgG>tgT	p.W675C	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.W659C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					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)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAAGGTGGGAGGAACTGA	0.398																																																	0								ENSG00000134121						96	111	105					3																	424203		2203	4300	6503	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2025G>T	3.37:g.424203G>T	ENSP00000256509:p.Trp675Cys	Somatic	0	41	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	39	20.41	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W675C	ENST00000256509.2	37	c.2025	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835885	0.71373	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.58940	0.3;0.3	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	H	0.98594	4.275	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	0.91871	0.5507	10	0.87932	D	0	.	18.3442	0.90315	0.0:0.0:1.0:0.0	.	659;659;675	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	C	675;659	ENSP00000256509:W675C;ENSP00000380628:W659C	ENSP00000256509:W675C	W	+	3	0	CHL1	399203	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	9.067000	0.93955	2.396000	0.81511	0.591000	0.81541	TGG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	G	NM_006614	-		424203	1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	1.000	T	T	424203	G	T	424203	3	4	225	1	0	0	0	0	1	0	0	0	3351	1241	43	3	2087	3	CHL1	3	424203	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		424203	197598227	18	18131											
CNTN6	27255	genome.wustl.edu	37	chr3	1371493	1371493	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctccagatttctccaaaaGtccagttaaaaaaaagtctt	5	9	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr3:1371493G>C	ENST00000446702.2	+	11	1865	c.1238G>C	c.(1237-1239)aGt>aCt	p.S413T	CNTN6_ENST00000350110.2_Missense_Mutation_p.S413T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S341T			Q9UQ52	CNTN6_HUMAN	contactin 6	413	Ig-like C2-type 5.				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)		TTCTCCAAAAGTCCAGTTAAA	0.388																																																	0								ENSG00000134115						82	85	84					3																	1371493		2203	4297	6500	CNTN6	SO:0001583	missense	0			-	HGNC	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.1238G>C	3.37:g.1371493G>C	ENSP00000407822:p.Ser413Thr	Somatic	0	45	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.48	Q2KHM2	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S413T	ENST00000446702.2	37	c.1238	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	7.290	0.610781	0.14066	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.66815	-0.23;-0.23;-0.23	5.71	2.0	0.26442	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.095788	0.45361	D	0.000368	T	0.36110	0.0955	N	0.02854	-0.475	0.25704	N	0.985556	B	0.24675	0.109	B	0.30105	0.111	T	0.23976	-1.0173	10	0.19147	T	0.46	.	5.3194	0.15874	0.6961:0.149:0.155:0.0	.	413	Q9UQ52	CNTN6_HUMAN	T	413;341;413	ENSP00000407822:S413T;ENSP00000442791:S341T;ENSP00000341882:S413T	ENSP00000341882:S413T	S	+	2	0	CNTN6	1346493	0.002000	0.14202	0.958000	0.39756	0.450000	0.32258	0.059000	0.14322	0.100000	0.17581	-0.471000	0.05019	AGT	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	protein_coding	OTTHUMT00000239235.2	G	NM_014461	-		1371493	1	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	SNP	0.958	C	C	1371493	G	C	1371493	3	2	225	1	0	0	0	0	1	0	0	0	3647	1029	36	4	1276	4	CNTN6	3	1371493	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	947290	1371493	196650937	19	18132											
ACPP	55	genome.wustl.edu	37	chr3	132075691	132075691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtatgaccacaaacaGccatcaaggtactgaagaca	10	9	1	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr3:132075691G>T	ENST00000336375.5	+	10	1220	c.1130G>T	c.(1129-1131)aGc>aTc	p.S377I	ACPP_ENST00000475741.1_Missense_Mutation_p.S344I|ACPP_ENST00000351273.7_Missense_Mutation_p.S377I	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	377					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCACAAACAGCCATCAAGGT	0.522																																																	0								ENSG00000014257						133	116	122					3																	132075691		2203	4300	6503	ACPP	SO:0001583	missense	0			-	HGNC		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.1130G>T	3.37:g.132075691G>T	ENSP00000337471:p.Ser377Ile	Somatic	0	22	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP							pfam_His_Pase_superF_clade-2	p.S377I	ENST00000336375.5	37	c.1130	CCDS3073.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.78|16.78	3.217116|3.217116	0.58560|0.58560	.|.	.|.	ENSG00000014257|ENSG00000014257	ENST00000507647|ENST00000336375;ENST00000475741;ENST00000351273	.|T;T;T	.|0.08546	.|3.08;3.08;3.2	5.67|5.67	-5.11|-5.11	0.02901|0.02901	.|.	.|1.587520	.|0.02849	.|N	.|0.128866	T|T	0.09113|0.09113	0.0225|0.0225	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.32731	.|0.25;0.365;0.382	.|B;B;B	.|0.34301	.|0.087;0.179;0.087	T|T	0.35001|0.35001	-0.9806|-0.9806	5|10	.|0.40728	.|T	.|0.16	.|.	6.9424|6.9424	0.24500|0.24500	0.2872:0.2714:0.4414:0.0|0.2872:0.2714:0.4414:0.0	.|.	.|377;377;344	.|P15309;P15309-2;Q5FBY0	.|PPAP_HUMAN;.;.	S|I	62|377;344;377	.|ENSP00000337471:S377I;ENSP00000417744:S344I;ENSP00000323036:S377I	.|ENSP00000337471:S377I	A|S	+|+	1|2	0|0	ACPP|ACPP	133558381|133558381	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.119000|0.119000	0.20118|0.20118	-0.638000|-0.638000	0.05452|0.05452	-0.786000|-0.786000	0.04516|0.04516	-0.302000|-0.302000	0.09304|0.09304	GCC|AGC	-	NULL		0.522	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	protein_coding	OTTHUMT00000356699.2	G	NM_001099	-		132075691	1	no_errors	ENST00000351273	ensembl	human	known	74_37	missense	SNP	0.000	T	T	132075691	G	T	132075691	3	4	225	1	0	0	0	0	1	0	0	0	167	971	34	3	1168	3	ACPP	3	132075691	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	130704198	132075691	65946739	20	18133											
TNFSF10	8743	genome.wustl.edu	37	chr3	172224433	172224433	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtccatattctgcatctttaGaccaacaactatttctagca	4	11	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr3:172224433G>T	ENST00000241261.2	-	5	817	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	232					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCATCTTTAGACCAACAACT	0.333																																																	0								ENSG00000121858						222	213	216					3																	172224433		2203	4300	6503	TNFSF10	SO:0001583	missense	0			-	HGNC	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.695C>A	3.37:g.172224433G>T	ENSP00000241261:p.Ser232Tyr	Somatic	0	45	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A1Y9B3	Missense_Mutation	SNP							pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom	p.S232Y	ENST00000241261.2	37	c.695	CCDS3219.1	3	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723176	0.48728	.	.	ENSG00000121858	ENST00000241261	D	0.95035	-3.59	5.54	5.54	0.83059	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.099831	0.64402	D	0.000001	D	0.97707	0.9248	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97964	1.0339	10	0.72032	D	0.01	-23.4166	19.8397	0.96678	0.0:0.0:1.0:0.0	.	232	P50591	TNF10_HUMAN	Y	232	ENSP00000241261:S232Y	ENSP00000241261:S232Y	S	-	2	0	TNFSF10	173707127	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	8.208000	0.89748	2.768000	0.95171	0.491000	0.48974	TCT	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom		0.333	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	protein_coding	OTTHUMT00000346601.1	G		-		172224433	-1	no_errors	ENST00000241261	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172224433	G	T	172224433	3	4	225	1	0	0	0	0	1	0	0	0	16308	942	33	3	154	3	TNFSF10	3	172224433	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	40148742	172224433	25797997	21	18134											
DSPP	1834	genome.wustl.edu	37	chr4	88534993	88534993	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatattaccaaagaagttggGaaaggcaacgaaggtaaaga	11	4	0	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:88534993G>T	ENST00000282478.7	+	4	1212	c.1179G>T	c.(1177-1179)ggG>ggT	p.G393G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.G393G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	393					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGAAGTTGGGAAAGGCAACG	0.418																																																	0								ENSG00000152591						113	106	108					4																	88534993		1915	4122	6037	DSPP	SO:0001819	synonymous_variant	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1179G>T	4.37:g.88534993G>T		Somatic	0	24	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	A8MUI0|O95815	Silent	SNP							NULL	p.G393	ENST00000282478.7	37	c.1179	CCDS43248.1	4																																																																																			-	NULL		0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	G	NM_014208	-		88534993	1	no_errors	ENST00000282478	ensembl	human	known	74_37	silent	SNP	0.790	T	T	88534993	G	T	88534993	2	4	225	1	0	0	0	0	0	0	0	1	4784	1161	41	3		3	DSPP	4	88534993	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		88534993	102619283	22	18135											
MMRN1	22915	genome.wustl.edu	37	chr4	90857825	90857825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtagtctggcaaatgttgtCaagtctcagaagcaagtaaa	11	6	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:90857825C>T	ENST00000394980.1	+	7	3313	c.2994C>T	c.(2992-2994)gtC>gtT	p.V998V	MMRN1_ENST00000264790.2_Silent_p.V998V|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.V740V			Q13201	MMRN1_HUMAN	multimerin 1	998					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAATGTTGTCAAGTCTCAGA	0.373																																																	0								ENSG00000138722						62	67	65					4																	90857825		2202	4300	6502	MMRN1	SO:0001819	synonymous_variant	0			-	HGNC	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2994C>T	4.37:g.90857825C>T		Somatic	0	38	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP							pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.V998	ENST00000394980.1	37	c.2994	CCDS3635.1	4																																																																																			-	NULL		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	C	NM_007351	-		90857825	1	no_errors	ENST00000264790	ensembl	human	known	74_37	silent	SNP	0.915	T	T	90857825	C	T	90857825	2	4	225	1	0	0	0	0	0	0	0	1	9672	813	29	2		2	MMRN1	4	90857825	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	2322832	90857825	100296451	23	18136											
MAML3	55534	genome.wustl.edu	37	chr4	140811111	140811111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgttgctgttg	14	11	0	0	rs62344937		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:140811111C>T	ENST00000509479.2	-	2	2335	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	MAML3_ENST00000398940.1_Silent_p.Q32Q|MAML3_ENST00000327122.5_Silent_p.Q337Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																																	0								ENSG00000196782						15	19	17					4																	140811111		2180	4283	6463	MAML3	SO:0001819	synonymous_variant	0			-	HGNC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1479G>A	4.37:g.140811111C>T		Somatic	0	24	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52		Silent	SNP							pfam_Neuroggenic_mastermind-like_N	p.Q493	ENST00000509479.2	37	c.1479	CCDS54805.1	4																																																																																			-	NULL		0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	C		rs62344937		140811111	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	silent	SNP	1.000	T	T	140811111	C	T	140811111	2	4	225	1	0	0	0	0	0	0	0	1	9209	796	28	2		2	MAML3	4	140811111	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	49953286	140811111	50343165	24	18137											
FGB	2244	genome.wustl.edu	37	chr4	155489556	155489556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggaaattatcaggaaaGgaggtgaaacatctgaaatg	13	3	2	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:155489556G>A	ENST00000302068.4	+	5	805	c.742G>A	c.(742-744)Gga>Aga	p.G248R	FGB_ENST00000509493.1_Missense_Mutation_p.G29R|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCAGGAAAGGAGGTGAAAC	0.338																																					NSCLC(106;1133 1613 21870 46110 52656)												0								ENSG00000171564						133	132	132					4																	155489556		2203	4300	6503	FGB	SO:0001583	missense	0			-	HGNC		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.742G>A	4.37:g.155489556G>A	ENSP00000306099:p.Gly248Arg	Somatic	0	32	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP							pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G248R	ENST00000302068.4	37	c.742	CCDS3786.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.184031	0.94885	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.80738	-1.41;-1.41	5.74	5.74	0.90152	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	0.91036	0.7180	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.70487	0.969;0.838	D	0.91750	0.5411	10	0.87932	D	0	.	19.9139	0.97034	0.0:0.0:1.0:0.0	.	231;248	B4E1D3;P02675	.;FIBB_HUMAN	R	248;231;29	ENSP00000306099:G248R;ENSP00000426757:G29R	ENSP00000306099:G248R	G	+	1	0	FGB	155709006	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.946000	0.87746	2.704000	0.92352	0.491000	0.48974	GGA	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.338	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	protein_coding	OTTHUMT00000317595.1	G	NM_005141	-		155489556	1	no_errors	ENST00000302068	ensembl	human	known	74_37	missense	SNP	1.000	A	A	155489556	G	A	155489556	3	1	225	1	0	0	0	0	1	0	0	0	5833	1001	35	2	760	2	FGB	4	155489556	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	14678445	155489556	35664720	25	18138											
KLKB1	3818	genome.wustl.edu	37	chr4	187171526	187171526	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcttctttacattctAtacaaatgtatggaaaatcg	5	9	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:187171526A>T	ENST00000264690.6	+	7	915	c.728A>T	c.(727-729)tAt>tTt	p.Y243F	KLKB1_ENST00000513864.1_Missense_Mutation_p.Y243F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	243	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTTACATTCTATACAAATGTA	0.468																																																	0								ENSG00000164344						157	139	145					4																	187171526		2203	4300	6503	KLKB1	SO:0001583	missense	0			-	HGNC	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.728A>T	4.37:g.187171526A>T	ENSP00000264690:p.Tyr243Phe	Somatic	0	48	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.Y243F	ENST00000264690.6	37	c.728	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	2.458|2.458	-0.324741|-0.324741	0.05350|0.05350	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.88818	.|-2.43;-2.43	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Apple domain (3);PAN-1 domain (1);Apple-like (1);	.|0.101496	.|0.42964	.|D	.|0.000625	D|D	0.85553|0.85553	0.5723|0.5723	N|N	0.25201|0.25201	0.72|0.72	0.27508|0.27508	N|N	0.951761|0.951761	.|D;P	.|0.57571	.|0.98;0.944	.|P;P	.|0.59357	.|0.856;0.652	T|T	0.75311|0.75311	-0.3362|-0.3362	5|10	.|0.02654	.|T	.|1	.|.	10.9114|10.9114	0.47110|0.47110	0.851:0.0:0.0:0.149|0.851:0.0:0.0:0.149	.|.	.|205;243	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	L|F	291|243;243;205	.|ENSP00000264690:Y243F;ENSP00000424469:Y243F	.|ENSP00000264690:Y243F	I|Y	+|+	1|2	0|0	KLKB1|KLKB1	187408520|187408520	0.967000|0.967000	0.33354|0.33354	0.725000|0.725000	0.30721|0.30721	0.013000|0.013000	0.08279|0.08279	2.917000|2.917000	0.48821|0.48821	2.127000|2.127000	0.65507|0.65507	0.449000|0.449000	0.29647|0.29647	ATA|TAT	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple		0.468	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	protein_coding	OTTHUMT00000317732.1	A	NM_000892	-		187171526	1	no_errors	ENST00000264690	ensembl	human	known	74_37	missense	SNP	0.929	T	T	187171526	A	T	187171526	3	4	225	1	0	0	0	0	1	0	0	0	8414	449	16	5	750	5	KLKB1	4	187171526	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	31681970	187171526	3982750	26	18139											
TRIO	7204	genome.wustl.edu	37	chr5	14378175	14378175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgcattactggaccaTgaggaagagacggctggacc	14	8	0	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:14378175T>C	ENST00000344204.4	+	20	3410	c.3386T>C	c.(3385-3387)aTg>aCg	p.M1129T	TRIO_ENST00000537187.1_Missense_Mutation_p.M1129T|TRIO_ENST00000509967.2_Missense_Mutation_p.M1080T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1129					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)					TACTGGACCATGAGGAAGAGA	0.488																																																	0								ENSG00000038382						107	91	96					5																	14378175		2203	4300	6503	TRIO	SO:0001583	missense	0			-	HGNC	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.3386T>C	5.37:g.14378175T>C	ENSP00000339299:p.Met1129Thr	Somatic	0	34	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.M1129T	ENST00000344204.4	37	c.3386	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184859	0.57909	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.39997	1.05;1.05;1.05	5.81	5.81	0.92471	.	0.038459	0.85682	D	0.000000	T	0.38983	0.1061	L	0.43152	1.355	0.58432	D	0.999998	B;B;B	0.32245	0.101;0.004;0.361	B;B;B	0.33846	0.171;0.012;0.046	T	0.15321	-1.0441	10	0.31617	T	0.26	.	16.1773	0.81862	0.0:0.0:0.0:1.0	.	1080;1129;1129	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	1129;1129;1080;816	ENSP00000339299:M1129T;ENSP00000446348:M1129T;ENSP00000445592:M1080T	ENSP00000339299:M1129T	M	+	2	0	TRIO	14431175	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.040000	0.89188	2.217000	0.71921	0.482000	0.46254	ATG	-	NULL		0.488	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	T	NM_007118	-		14378175	1	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	SNP	1.000	C	C	14378175	T	C	14378175	3	2	225	1	0	0	0	0	1	0	0	0	16559	1464	51	5	3464	5	TRIO	5	14378175	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09		14378175	166537085	27	18140											
PCDHB1	29930	genome.wustl.edu	37	chr5	140433279	140433279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctctaacaacctggtaCaaggacaaggcaatggatcc	8	10	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:140433279C>A	ENST00000306549.3	+	1	2301	c.2224C>A	c.(2224-2226)Caa>Aaa	p.Q742K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	742					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)			CAACCTGGTACAAGGACAAGG	0.368																																																	0								ENSG00000171815						111	108	109					5																	140433279		2203	4300	6503	PCDHB1	SO:0001583	missense	0			-	HGNC	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.2224C>A	5.37:g.140433279C>A	ENSP00000307234:p.Gln742Lys	Somatic	0	26	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	Q2M257	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q742K	ENST00000306549.3	37	c.2224	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626580	0.28978	.	.	ENSG00000171815	ENST00000306549	T	0.47177	0.85	5.34	4.42	0.53409	.	0.438335	0.16950	N	0.192927	T	0.31420	0.0796	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.21211	-1.0252	10	0.87932	D	0	.	10.7937	0.46449	0.0:0.7914:0.1335:0.0751	.	742	Q9Y5F3	PCDB1_HUMAN	K	742	ENSP00000307234:Q742K	ENSP00000307234:Q742K	Q	+	1	0	PCDHB1	140413463	0.976000	0.34144	0.995000	0.50966	0.242000	0.25591	3.038000	0.49783	2.664000	0.90586	0.655000	0.94253	CAA	-	NULL		0.368	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	protein_coding	OTTHUMT00000251822.2	C	NM_013340	-		140433279	1	no_errors	ENST00000306549	ensembl	human	known	74_37	missense	SNP	0.056	A	A	140433279	C	A	140433279	3	1	225	1	0	0	0	0	1	0	0	0	11536	479	17	3	2226	3	PCDHB1	5	140433279	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	126055104	140433279	40481981	28	18141											
ATP10B	23120	genome.wustl.edu	37	chr5	159992826	159992826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatttccaggtttcttttGtctggggggagtttgtcaat	13	5	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:159992826G>T	ENST00000327245.5	-	26	4866	c.4020C>A	c.(4018-4020)gaC>gaA	p.D1340E		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1340					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)			GGTTTCTTTTGTCTGGGGGGA	0.488																																																	0								ENSG00000118322						116	118	117					5																	159992826		1815	4081	5896	ATP10B	SO:0001583	missense	0			-	HGNC	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.4020C>A	5.37:g.159992826G>T	ENSP00000313600:p.Asp1340Glu	Somatic	0	22	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62	Q9H725	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D1340E	ENST00000327245.5	37	c.4020	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	1.690	-0.504322	0.04261	.	.	ENSG00000118322	ENST00000327245	T	0.39406	1.08	5.65	1.48	0.22813	.	0.334767	0.29246	N	0.012711	T	0.18383	0.0441	N	0.11724	0.165	0.27240	N	0.959174	B	0.09022	0.002	B	0.04013	0.001	T	0.10823	-1.0613	9	.	.	.	.	4.076	0.09904	0.3171:0.1887:0.4943:0.0	.	1340	O94823	AT10B_HUMAN	E	1340	ENSP00000313600:D1340E	.	D	-	3	2	ATP10B	159925404	0.995000	0.38212	0.963000	0.40424	0.640000	0.38277	0.108000	0.15396	0.687000	0.31509	-0.365000	0.07479	GAC	-	NULL		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	G	NM_025153	-		159992826	-1	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	SNP	0.921	T	T	159992826	G	T	159992826	3	4	225	1	0	0	0	0	1	0	0	0	1117	1368	48	3	369	3	ATP10B	5	159992826	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	19559547	159992826	20922434	29	18142											
CCNG1	900	genome.wustl.edu	37	chr5	162868282	162868282	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaaagctactactgccTttcaatttctgcaactgtat	5	10	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:162868282T>A	ENST00000340828.2	+	3	687	c.463T>A	c.(463-465)Ttt>Att	p.F155I	CCNG1_ENST00000511683.2_Missense_Mutation_p.F21I|CCNG1_ENST00000510664.1_Missense_Mutation_p.F27I|CCNG1_ENST00000504553.1_Missense_Mutation_p.F21I|CCNG1_ENST00000512163.1_Missense_Mutation_p.F21I|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.F155I	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	155					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TACTACTGCCTTTCAATTTCT	0.368																																																	0								ENSG00000113328						108	105	106					5																	162868282		2203	4300	6503	CCNG1	SO:0001583	missense	0			-	HGNC	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.463T>A	5.37:g.162868282T>A	ENSP00000344635:p.Phe155Ile	Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP							pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.F155I	ENST00000340828.2	37	c.463	CCDS4360.1	5	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273892	0.59649	.	.	ENSG00000113328	ENST00000512163;ENST00000393929;ENST00000340828;ENST00000511683;ENST00000510664;ENST00000504553	T;T;T;T;T;T	0.30182	1.59;2.69;2.69;1.59;2.01;1.54	5.23	5.23	0.72850	.	0.057488	0.64402	D	0.000001	T	0.24122	0.0584	L	0.44542	1.39	0.43971	D	0.996657	B	0.31581	0.329	B	0.23574	0.047	T	0.06807	-1.0806	10	0.56958	D	0.05	-3.664	9.6221	0.39727	0.0:0.0781:0.0:0.9219	.	155	P51959	CCNG1_HUMAN	I	21;155;155;21;27;21	ENSP00000424315:F21I;ENSP00000377506:F155I;ENSP00000344635:F155I;ENSP00000424141:F21I;ENSP00000422379:F27I;ENSP00000427086:F21I	ENSP00000344635:F155I	F	+	1	0	CCNG1	162800860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.764000	0.55264	1.979000	0.57680	0.533000	0.62120	TTT	-	NULL		0.368	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG1	protein_coding	OTTHUMT00000252750.3	T	NM_004060	-		162868282	1	no_errors	ENST00000340828	ensembl	human	known	74_37	missense	SNP	1.000	A	A	162868282	T	A	162868282	3	1	225	1	0	0	0	0	1	0	0	0	2925	1609	56	5	469	5	CCNG1	5	162868282	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	2875456	162868282	18046978	30	18143											
COL23A1	91522	genome.wustl.edu	37	chr5	177683352	177683352	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgaggggcggcagcttAcccggggccctgcagctcca	15	16	0	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:177683352A>T	ENST00000390654.3	-	15	1240		c.e15+1		COL23A1_ENST00000407622.1_Splice_Site	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GCGGCAGCTTACCCGGGGCCC	0.647																																																	0								ENSG00000050767						19	23	22					5																	177683352		1959	4137	6096	COL23A1	SO:0001630	splice_region_variant	0			-	HGNC	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.882+1T>A	5.37:g.177683352A>T		Somatic	0	48	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	57	31.33	Q8IVR4|Q9NT93	Splice_Site	SNP							-	e15+2	ENST00000390654.3	37	c.882+2	CCDS4436.1	5	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671375	0.47781	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2259	0.43225	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL23A1	177615958	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	2.577000	0.46042	1.998000	0.58463	0.459000	0.35465	.	-	-		0.647	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	protein_coding	OTTHUMT00000253475.1	A	NM_173465	-	Intron	177683352	-1	no_errors	ENST00000390654	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	177683352	A	T	177683352	5	4	225	1	0	0	0	0	0	0	1	0	3684	405	14	5	798	5	COL23A1	5	177683352	Splice_Site	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	14815070	177683352	3231908	31	18144											
CNR1	1268	genome.wustl.edu	37	chr6	88854252	88854252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagaggcagcacggCgatcacaatggctatggtcc	14	12	1	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr6:88854252C>A	ENST00000537554.1	-	2	4304	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.A187S|CNR1_ENST00000369499.2_Missense_Mutation_p.A248S|CNR1_ENST00000428600.2_Missense_Mutation_p.A248S|CNR1_ENST00000535130.1_Missense_Mutation_p.A248S|CNR1_ENST00000549890.1_Missense_Mutation_p.A248S|CNR1_ENST00000369501.2_Missense_Mutation_p.A248S|CNR1_ENST00000468898.1_Missense_Mutation_p.A215S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	248					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGCAGCACGGCGATCACAATG	0.527																																																	0								ENSG00000118432						85	77	80					6																	88854252		2203	4300	6503	CNR1	SO:0001583	missense	0			-	HGNC	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.742G>T	6.37:g.88854252C>A	ENSP00000441046:p.Ala248Ser	Somatic	0	8	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.A248S	ENST00000537554.1	37	c.742	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	C	6.915	0.538497	0.13250	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	N	0.01751	-0.74	0.80722	D	1	B;B	0.28713	0.22;0.151	B;B	0.39339	0.146;0.297	T	0.34750	-0.9816	10	0.20519	T	0.43	.	20.2861	0.98535	0.0:1.0:0.0:0.0	.	215;248	P21554-3;P21554	.;CNR1_HUMAN	S	248;248;248;248;248;215;248;187	ENSP00000358513:A248S;ENSP00000442689:A248S;ENSP00000441046:A248S;ENSP00000358511:A248S;ENSP00000446819:A248S;ENSP00000420188:A215S;ENSP00000412192:A248S;ENSP00000449549:A187S	ENSP00000358511:A248S	A	-	1	0	CNR1	88910971	1.000000	0.71417	0.339000	0.25562	0.090000	0.18270	7.818000	0.86416	2.800000	0.96347	0.655000	0.94253	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	protein_coding	OTTHUMT00000354204.2	C		-		88854252	-1	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88854252	C	A	88854252	3	1	225	1	0	0	0	0	1	0	0	0	3633	768	27	3	680	3	CNR1	6	88854252	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		88854252	82260815	32	18145											
GPRC6A	222545	genome.wustl.edu	37	chr6	117114310	117114310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaggagtaggatggccaaGgagtcattccagttgagata	13	6	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr6:117114310G>T	ENST00000310357.3	-	6	1797	c.1776C>A	c.(1774-1776)tcC>tcA	p.S592S	GPRC6A_ENST00000368549.3_Silent_p.S521S|GPRC6A_ENST00000530250.1_Silent_p.S417S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	592					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)			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)		GGATGGCCAAGGAGTCATTCC	0.428																																																	0								ENSG00000173612						106	103	104					6																	117114310		2203	4300	6503	GPRC6A	SO:0001819	synonymous_variant	0			-	HGNC	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.1776C>A	6.37:g.117114310G>T		Somatic	0	24	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP							pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.S592	ENST00000310357.3	37	c.1776	CCDS5112.1	6																																																																																			-	NULL		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	G		-		117114310	-1	no_errors	ENST00000310357	ensembl	human	known	74_37	silent	SNP	0.339	T	T	117114310	G	T	117114310	2	4	225	1	0	0	0	0	0	0	0	1	6730	987	35	3		3	GPRC6A	6	117114310	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	28260058	117114310	54000757	33	18146											
HIVEP2	3097	genome.wustl.edu	37	chr6	143092861	143092861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagggacagtcagaaaCtctgaatgcttcccaaactc	8	13	2	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr6:143092861C>T	ENST00000367604.1	-	4	3654	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	HIVEP2_ENST00000367603.2_Silent_p.E1005E|HIVEP2_ENST00000012134.2_Silent_p.E1005E			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1005					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)		CAGTCAGAAACTCTGAATGCT	0.488																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0								ENSG00000010818						95	97	96					6																	143092861		1996	4183	6179	HIVEP2	SO:0001819	synonymous_variant	0			-	HGNC	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.3015G>A	6.37:g.143092861C>T		Somatic	0	21	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q02646|Q5THT5|Q9NS05	Silent	SNP							pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1005	ENST00000367604.1	37	c.3015	CCDS43510.1	6																																																																																			-	NULL		0.488	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	C		-		143092861	-1	no_errors	ENST00000012134	ensembl	human	known	74_37	silent	SNP	1.000	T	T	143092861	C	T	143092861	2	4	225	1	0	0	0	0	0	0	0	1	7189	564	20	2		2	HIVEP2	6	143092861	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	25978551	143092861	28022206	34	18147											
UNC93A	54346	genome.wustl.edu	37	chr6	167728838	167728838	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcctgaccatggtggcGtatgggcttgtggagtgcgt	17	8	0	2	rs148062483	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr6:167728838G>T	ENST00000230256.3	+	8	1447	c.1272G>T	c.(1270-1272)gcG>gcT	p.A424A	UNC93A_ENST00000366829.2_Silent_p.A382A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	424						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A424A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCATGGTGGCGTATGGGCTTG	0.547																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000112494						212	234	227					6																	167728838		2203	4300	6503	UNC93A	SO:0001819	synonymous_variant	0			-	HGNC	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1272G>T	6.37:g.167728838G>T		Somatic	0	79	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	77	22.22	B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP							pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A424	ENST00000230256.3	37	c.1272	CCDS5300.1	6																																																																																			-	superfamily_MFS_dom_general_subst_transpt		0.547	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	protein_coding	OTTHUMT00000043125.2	G	NM_018974	-		167728838	1	no_errors	ENST00000230256	ensembl	human	known	74_37	silent	SNP	0.000	T	T	167728838	G	T	167728838	2	4	225	1	0	0	0	0	0	0	0	1	17003	1132	40	3		3	UNC93A	6	167728838	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	24635977	167728838	3386229	35	18148											
FOXK1	221937	genome.wustl.edu	37	chr7	4722449	4722449	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaacggcgtcttcgtGgacggggccttccagagacg	16	11	1	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:4722449G>T	ENST00000328914.4	+	1	510	c.510G>T	c.(508-510)gtG>gtT	p.V170V	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCGTCTTCGTGGACGGGGCCT	0.726																																																	0								ENSG00000164916						11	11	11					7																	4722449		2195	4295	6490	FOXK1	SO:0001819	synonymous_variant	0			-	HGNC	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.510G>T	7.37:g.4722449G>T		Somatic	0	21	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	10	50.00		Silent	SNP							pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.V170	ENST00000328914.4	37	c.510	CCDS34591.1	7																																																																																			-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.726	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	protein_coding	OTTHUMT00000323729.2	G		-		4722449	1	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	SNP	1.000	T	T	4722449	G	T	4722449	2	4	225	1	0	0	0	0	0	0	0	1	6016	1335	47	3		3	FOXK1	7	4722449	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		4722449	154416214	36	18149											
EVX1	2128	genome.wustl.edu	37	chr7	27282704	27282704	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgggggtcagcttggcactCtggttggcaagagagtctca	15	8	3	1	rs148966856		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:27282704C>A	ENST00000496902.4	+	1	541	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.L19M|RP1-170O19.17_ENST00000523608.2_lincRNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	19					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GCTTGGCACTCTGGTTGGCAA	0.632																																																	0								ENSG00000106038						42	45	44					7																	27282704		2203	4300	6503	EVX1	SO:0001583	missense	0			-	HGNC		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.55C>A	7.37:g.27282704C>A	ENSP00000419266:p.Leu19Met	Somatic	0	52	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A4D199|B4DQJ0	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L19M	ENST00000496902.4	37	c.55	CCDS5413.1	7	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929463	0.52759	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.91740	-2.9	5.09	1.18	0.20946	.	0.000000	0.64402	D	0.000005	D	0.92123	0.7503	M	0.64997	1.995	0.80722	D	1	D;D	0.57899	0.981;0.966	P;P	0.56700	0.804;0.641	D	0.88563	0.3124	10	0.49607	T	0.09	-13.0205	7.1787	0.25760	0.0:0.6675:0.1229:0.2096	.	19;19	F8W9J5;P49640	.;EVX1_HUMAN	M	19	ENSP00000419266:L19M	ENSP00000222761:L19M	L	+	1	2	EVX1	27249229	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.088000	0.41663	-0.064000	0.13043	0.462000	0.41574	CTG	-	NULL		0.632	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVX1	protein_coding	OTTHUMT00000358750.3	C		-		27282704	1	no_errors	ENST00000496902	ensembl	human	known	74_37	missense	SNP	0.998	A	A	27282704	C	A	27282704	3	1	225	1	0	0	0	0	1	0	0	0	5296	912	32	3	57	3	EVX1	7	27282704	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	22560255	27282704	131855959	37	18150											
DPY19L1	23333	genome.wustl.edu	37	chr7	35006539	35006539	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgatcttccgtaatttacaTatatcaatgtacccgacaac	4	10	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:35006539T>A	ENST00000310974.4	-	10	984	c.840A>T	c.(838-840)atA>atT	p.I280I	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	280						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTAATTTACATATATCAATGT	0.244																																																	0								ENSG00000173852						43	39	40					7																	35006539		1784	4018	5802	DPY19L1	SO:0001819	synonymous_variant	0			-	HGNC	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.840A>T	7.37:g.35006539T>A		Somatic	0	41	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O94954|Q4G151	Silent	SNP							pfam_Dpy-19	p.I280	ENST00000310974.4	37	c.840	CCDS43567.1	7																																																																																			-	pfam_Dpy-19		0.244	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	protein_coding	OTTHUMT00000337506.1	T		-		35006539	-1	no_errors	ENST00000310974	ensembl	human	known	74_37	silent	SNP	0.993	A	A	35006539	T	A	35006539	2	1	225	1	0	0	0	0	0	0	0	1	4742	1396	49	5		5	DPY19L1	7	35006539	Silent	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	7723835	35006539	124132124	38	18151											
ELN	2006	genome.wustl.edu	37	chr7	73467612	73467612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattccagttgtcccaggtGctgggatcccaggtgctgcg	15	11	0	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:73467612G>T	ENST00000252034.7	+	18	1468	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	ELN_ENST00000429192.1_Missense_Mutation_p.A362S|ELN_ENST00000445912.1_Missense_Mutation_p.A357S|ELN_ENST00000380562.4_Missense_Mutation_p.A357S|ELN_ENST00000458204.1_Missense_Mutation_p.A347S|ELN_ENST00000357036.5_Missense_Mutation_p.A362S|ELN_ENST00000380553.4_Missense_Mutation_p.A240S|ELN_ENST00000358929.4_Missense_Mutation_p.A357S|ELN_ENST00000380575.4_Missense_Mutation_p.A347S|ELN_ENST00000320492.7_Missense_Mutation_p.A321S|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380576.5_Missense_Mutation_p.A357S|ELN_ENST00000320399.6_Missense_Mutation_p.A357S|ELN_ENST00000380584.4_Missense_Mutation_p.A343S|ELN_ENST00000414324.1_Missense_Mutation_p.A352S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	357	Ala-rich.				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)			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)				TGTCCCAGGTGCTGGGATCCC	0.577			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0								ENSG00000049540						92	81	85					7																	73467612		2203	4300	6503	ELN	SO:0001583	missense	0			-	HGNC		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.1069G>T	7.37:g.73467612G>T	ENSP00000252034:p.Ala357Ser	Somatic	0	40	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP							prints_Tropoelastin	p.A357S	ENST00000252034.7	37	c.1069	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	g	10.21	1.286853	0.23478	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34072	1.41;1.42;1.47;1.38;1.42;1.42;1.41;1.45;1.41;1.41;1.45;1.42;1.41;1.42	3.69	1.82	0.25136	.	.	.	.	.	T	0.16854	0.0405	N	0.14661	0.345	0.23003	N	0.998445	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318;0.318	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29785	0.107;0.075;0.075;0.107;0.107;0.107;0.107;0.107;0.107;0.107;0.107;0.075;0.107;0.107	T	0.25398	-1.0133	9	0.11485	T	0.65	.	5.3574	0.16069	0.2741:0.0:0.7259:0.0	.	357;326;321;352;347;357;347;362;362;357;240;313;343;357	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	357;357;357;321;352;357;347;343;347;362;362;326;240;357;357	ENSP00000389857:A357S;ENSP00000252034:A357S;ENSP00000351807:A357S;ENSP00000315607:A321S;ENSP00000392575:A352S;ENSP00000369936:A357S;ENSP00000369949:A347S;ENSP00000369958:A343S;ENSP00000403162:A347S;ENSP00000349540:A362S;ENSP00000391129:A362S;ENSP00000369926:A240S;ENSP00000369950:A357S;ENSP00000313565:A357S	ENSP00000252034:A357S	A	+	1	0	ELN	73105548	1.000000	0.71417	0.930000	0.37139	0.328000	0.28507	1.593000	0.36686	0.359000	0.24239	0.434000	0.28630	GCT	-	NULL		0.577	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	-		73467612	1	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	SNP	0.922	T	T	73467612	G	T	73467612	3	4	225	1	0	0	0	0	1	0	0	0	5073	1319	46	3	1154	3	ELN	7	73467612	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	38461073	73467612	85671051	39	18152											
CYP3A7	1551	genome.wustl.edu	37	chr7	99308456	99308456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaacactgctcgtggTttcatagccagcaaaaataa	10	8	1	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:99308456T>C	ENST00000336374.2	-	10	927	c.925A>G	c.(925-927)Acc>Gcc	p.T309A	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	309					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTGCTCGTGGTTTCATAGCCA	0.403																																																	0								ENSG00000160870						94	85	88					7																	99308456		2203	4300	6503	CYP3A7	SO:0001583	missense	0			-	HGNC	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.925A>G	7.37:g.99308456T>C	ENSP00000337450:p.Thr309Ala	Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A4D288|Q9H241	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.T309A	ENST00000336374.2	37	c.925	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	t	11.45	1.642170	0.29157	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	D	0.87571	-2.27	3.99	1.48	0.22813	.	0.047005	0.85682	D	0.000000	D	0.89051	0.6605	H	0.94620	3.56	0.40376	D	0.979394	B	0.25667	0.131	B	0.32022	0.139	D	0.83716	0.0190	10	0.62326	D	0.03	.	5.194	0.15225	0.0:0.103:0.1812:0.7158	.	309	P24462	CP3A7_HUMAN	A	309	ENSP00000337450:T309A	ENSP00000292414:T309A	T	-	1	0	CYP3A7	99146392	0.220000	0.23631	0.817000	0.32601	0.293000	0.27360	0.267000	0.18552	0.069000	0.16605	0.374000	0.22700	ACC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450		0.403	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	protein_coding	OTTHUMT00000345484.1	T		-		99308456	-1	no_errors	ENST00000336374	ensembl	human	known	74_37	missense	SNP	1.000	C	C	99308456	T	C	99308456	3	2	225	1	0	0	0	0	1	0	0	0	4183	1725	60	5	602	5	CYP3A7	7	99308456	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	25840844	99308456	59830207	40	18153											
ZAN	7455	genome.wustl.edu	37	chr7	100344302	100344302	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctcctggtgcagcccTccacatttatgcttcagtct	7	15	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:100344302T>C	ENST00000348028.3	+	0	1073				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTGCAGCCCTCCACATTTAT	0.562																																																	0								ENSG00000146839						132	135	134					7																	100344302		1938	4149	6087	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100344302T>C		Somatic	0	33	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	9	64.00	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L303P	ENST00000348028.3	37	c.908		7	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601550	0.66445	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.08370	3.1;3.1;3.1	4.88	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.210314	0.24126	N	0.041305	T	0.34716	0.0907	M	0.90870	3.155	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79108	0.986;0.992	T	0.33085	-0.9882	10	0.87932	D	0	.	11.4571	0.50189	0.0:0.0:0.0:1.0	.	303;303	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	303	ENSP00000445943:L303P;ENSP00000445091:L303P;ENSP00000444427:L303P	ENSP00000423579:L303P	L	+	2	0	ZAN	100182238	0.074000	0.21230	0.026000	0.17262	0.257000	0.26127	3.487000	0.53222	2.130000	0.65690	0.528000	0.53228	CTC	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	T	NM_003386	-		100344302	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.089	C	C	100344302	T	C	100344302	1	2	225	0	1	0	0	0	0	0	0	0	17520	1551	54	5		5	ZAN	7	100344302	RNA	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	1035846	100344302	58794361	41	18154											
THAP5	168451	genome.wustl.edu	37	chr7	108205136	108205136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggattagcaagatgactGgtagttacttcaagaacttc	9	6	1	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:108205136G>A	ENST00000415914.3	-	3	840	c.687C>T	c.(685-687)acC>acT	p.T229T	THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Silent_p.T187T	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	229					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						CAAGATGACTGGTAGTTACTT	0.313																																																	0								ENSG00000177683						54	56	56					7																	108205136		2202	4298	6500	THAP5	SO:0001819	synonymous_variant	0			-	HGNC	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.687C>T	7.37:g.108205136G>A		Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		Silent	SNP							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T229	ENST00000415914.3	37	c.687	CCDS47687.1	7																																																																																			-	NULL		0.313	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	protein_coding	OTTHUMT00000337777.2	G	NM_182529	-		108205136	-1	no_errors	ENST00000415914	ensembl	human	known	74_37	silent	SNP	0.014	A	A	108205136	G	A	108205136	2	1	225	1	0	0	0	0	0	0	0	1	15854	1335	47	2		2	THAP5	7	108205136	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	7860834	108205136	50933527	42	18155											
MET	4233	genome.wustl.edu	37	chr7	116397813	116397813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttcaattggtggaaaaaCatgtactttaaaaaggtgtt	8	4	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:116397813C>T	ENST00000318493.6	+	8	2274	c.2087C>T	c.(2086-2088)aCa>aTa	p.T696I	MET_ENST00000397752.3_Missense_Mutation_p.T696I|MET_ENST00000436117.2_Missense_Mutation_p.T696I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGTGGAAAAACATGTACTTTA	0.328			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0								ENSG00000105976						90	87	88					7																	116397813		1839	4094	5933	MET	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	-	HGNC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2087C>T	7.37:g.116397813C>T	ENSP00000317272:p.Thr696Ile	Somatic	0	47	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP							pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T696I	ENST00000318493.6	37	c.2087	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202333	0.38905	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.76709	-1.04;-1.04;-1.04	5.45	5.45	0.79879	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.312229	0.37955	N	0.001869	T	0.78672	0.4320	L	0.59436	1.845	0.80722	D	1	B;B;P;B;B;B;D	0.53462	0.44;0.054;0.831;0.11;0.121;0.058;0.96	B;B;P;B;B;B;P	0.52554	0.188;0.039;0.642;0.139;0.11;0.046;0.702	T	0.76493	-0.2939	10	0.34782	T	0.22	.	8.8144	0.34987	0.1506:0.7745:0.0:0.0749	.	696;696;696;696;668;696;696	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	I	696	ENSP00000380860:T696I;ENSP00000317272:T696I;ENSP00000410980:T696I	ENSP00000317272:T696I	T	+	2	0	MET	116185049	0.805000	0.28982	1.000000	0.80357	0.998000	0.95712	1.205000	0.32308	2.717000	0.92951	0.585000	0.79938	ACA	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.328	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	protein_coding	OTTHUMT00000059620.3	C		-		116397813	1	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	SNP	1.000	T	T	116397813	C	T	116397813	3	4	225	1	0	0	0	0	1	0	0	0	9487	478	17	2	2113	2	MET	7	116397813	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	8192677	116397813	42740850	43	18156											
ZNF800	168850	genome.wustl.edu	37	chr7	127014569	127014569	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattcttactgcgtcctttaGaggattggtttggattcttt	9	7	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:127014569G>T	ENST00000393313.1	-	5	1412	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.S274Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.S274Y|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	274					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GCGTCCTTTAGAGGATTGGTT	0.373																																																	0								ENSG00000048405						247	233	238					7																	127014569		2203	4300	6503	ZNF800	SO:0001583	missense	0			-	HGNC	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.821C>A	7.37:g.127014569G>T	ENSP00000376989:p.Ser274Tyr	Somatic	0	22	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q9HBN0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S274Y	ENST00000393313.1	37	c.821	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430615	0.25726	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.16743	2.32;2.32;2.32	5.41	5.41	0.78517	.	0.379952	0.29233	N	0.012750	T	0.12178	0.0296	N	0.14661	0.345	0.29390	N	0.862716	P;P	0.46277	0.875;0.875	B;B	0.41571	0.36;0.36	T	0.21861	-1.0233	8	.	.	.	-7.031	16.3668	0.83335	0.0:0.0:1.0:0.0	.	177;274	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Y	274	ENSP00000376989:S274Y;ENSP00000265827:S274Y;ENSP00000376988:S274Y	.	S	-	2	0	ZNF800	126801805	1.000000	0.71417	0.893000	0.35052	0.887000	0.51463	4.596000	0.61055	2.536000	0.85505	0.650000	0.86243	TCT	-	NULL		0.373	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	protein_coding	OTTHUMT00000141823.1	G	NM_176814	-		127014569	-1	no_errors	ENST00000265827	ensembl	human	known	74_37	missense	SNP	1.000	T	T	127014569	G	T	127014569	3	4	225	1	0	0	0	0	1	0	0	0	18176	942	33	3	1181	3	ZNF800	7	127014569	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	10616756	127014569	32124094	44	18157											
TNPO3	23534	genome.wustl.edu	37	chr7	128655088	128655088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcttctataatttctgtgCgccgattagctccaattcgt	6	10	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:128655088C>T	ENST00000265388.5	-	4	640	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TNPO3_ENST00000471234.1_Missense_Mutation_p.R166H|TNPO3_ENST00000393245.1_Missense_Mutation_p.R166H|TNPO3_ENST00000471166.1_Missense_Mutation_p.R166H|TNPO3_ENST00000482320.1_Missense_Mutation_p.R100H			Q9Y5L0	TNPO3_HUMAN	transportin 3	166					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AATTTCTGTGCGCCGATTAGC	0.393																																					Pancreas(147;583 2585 39696 52331)												0								ENSG00000064419						115	108	110					7																	128655088		2203	4300	6503	TNPO3	SO:0001583	missense	0			-	HGNC	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.497G>A	7.37:g.128655088C>T	ENSP00000265388:p.Arg166His	Somatic	0	31	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP							pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.R166H	ENST00000265388.5	37	c.497	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.095316	0.94197	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.62	5.62	0.85841	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	M	0.86268	2.805	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	0.86259	0.1654	10	0.48119	T	0.1	.	17.1461	0.86767	0.0:1.0:0.0:0.0	.	166;166;166	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	H	166;166;100;166;166	ENSP00000376936:R166H;ENSP00000265388:R166H;ENSP00000420089:R100H;ENSP00000418646:R166H;ENSP00000418267:R166H	ENSP00000265388:R166H	R	-	2	0	TNPO3	128442324	1.000000	0.71417	0.924000	0.36721	0.743000	0.42351	7.772000	0.85439	2.634000	0.89283	0.591000	0.81541	CGC	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.393	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	C	NM_012470	-		128655088	-1	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	SNP	0.999	T	T	128655088	C	T	128655088	3	4	225	1	0	0	0	0	1	0	0	0	16344	768	27	1	2350	1	TNPO3	7	128655088	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	1640519	128655088	30483575	45	18158											
NRF1	4899	genome.wustl.edu	37	chr7	129311328	129311328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagaaacggaaacggcctCatgtatttgagtctaatcca	9	8	2	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:129311328C>T	ENST00000393232.1	+	3	400	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393231.3_Missense_Mutation_p.H95Y|NRF1_ENST00000311967.2_Missense_Mutation_p.H95Y|NRF1_ENST00000353868.4_Missense_Mutation_p.H95Y|NRF1_ENST00000393230.2_Missense_Mutation_p.H95Y|NRF1_ENST00000223190.4_Missense_Mutation_p.H95Y	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	95					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						GAAACGGCCTCATGTATTTGA	0.473																																																	0								ENSG00000106459						117	102	107					7																	129311328		2203	4300	6503	NRF1	SO:0001583	missense	0			-	HGNC	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.283C>T	7.37:g.129311328C>T	ENSP00000376924:p.His95Tyr	Somatic	0	31	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP							pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd	p.H95Y	ENST00000393232.1	37	c.283	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	C	32	5.150290	0.94645	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.29	5.29	0.74685	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.045710	0.85682	D	0.000000	T	0.73016	0.3533	L	0.58302	1.8	0.80722	D	1	P;P	0.49635	0.926;0.843	P;P	0.56563	0.801;0.615	T	0.74386	-0.3682	9	0.54805	T	0.06	-8.0148	17.9646	0.89096	0.0:1.0:0.0:0.0	.	95;95	Q96AN2;Q16656	.;NRF1_HUMAN	Y	95	.	ENSP00000223190:H95Y	H	+	1	0	NRF1	129098564	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.252000	0.78309	2.482000	0.83794	0.585000	0.79938	CAT	-	pfam_Nrf1_NLS/DNA-bd_dimer		0.473	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	protein_coding	OTTHUMT00000289813.1	C	NM_001040110	-		129311328	1	no_errors	ENST00000393231	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129311328	C	T	129311328	3	4	225	1	0	0	0	0	1	0	0	0	10648	826	29	2	289	2	NRF1	7	129311328	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	656240	129311328	29827335	46	18159											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174802	150174802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaacgtcagcaaactaatTaaaaatgtccaggaaatgtc	8	7	1	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:150174802T>G	ENST00000307271.3	+	5	2506	c.1932T>G	c.(1930-1932)atT>atG	p.I644M		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	644						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCAAACTAATTAAAAATGTCC	0.408																																																	0								ENSG00000171115						56	63	61					7																	150174802		2198	4297	6495	GIMAP8	SO:0001583	missense	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1932T>G	7.37:g.150174802T>G	ENSP00000305107:p.Ile644Met	Somatic	0	56	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	30.91		Missense_Mutation	SNP							pfam_AIG1,superfamily_P-loop_NTPase	p.I644M	ENST00000307271.3	37	c.1932	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	T	1.877	-0.458731	0.04508	.	.	ENSG00000171115	ENST00000307271	T	0.07021	3.23	4.31	-8.63	0.00878	AIG1 (1);	2.679310	0.02165	N	0.059204	T	0.02807	0.0084	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.39542	-0.9609	10	0.19590	T	0.45	.	0.073	0.00024	0.2687:0.2312:0.2132:0.2869	.	644	Q8ND71	GIMA8_HUMAN	M	644	ENSP00000305107:I644M	ENSP00000305107:I644M	I	+	3	3	GIMAP8	149805735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.494000	0.02296	-2.472000	0.00529	-2.020000	0.00432	ATT	-	pfam_AIG1		0.408	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	T	NM_175571	-		150174802	1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	SNP	0.000	G	G	150174802	T	G	150174802	3	3	225	1	0	0	0	0	1	0	0	0	6387	1742	61	5	1946	5	GIMAP8	7	150174802	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	20863474	150174802	8963861	47	18160											
DLGAP2	9228	genome.wustl.edu	37	chr8	1626652	1626652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctggagcccgccatcgAcacggtagagactgggagga	16	11	0	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:1626652A>C	ENST00000421627.2	+	9	2455	c.2321A>C	c.(2320-2322)gAc>gCc	p.D774A	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	853					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGCCATCGACACGGTAGAG	0.602																																																	0								ENSG00000198010						20	24	22					8																	1626652		1904	4124	6028	DLGAP2	SO:0001583	missense	0			-	HGNC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2321A>C	8.37:g.1626652A>C	ENSP00000400258:p.Asp774Ala	Somatic	0	54	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP							pfam_GKAP	p.D774A	ENST00000421627.2	37	c.2321	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.188|7.188	0.590935|0.590935	0.13812|0.13812	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.18174|.	2.23|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.556195|.	0.19455|.	N|.	0.113854|.	T|T	0.56529|0.56529	0.1991|0.1991	L|L	0.34521|0.34521	1.04|1.04	0.37174|0.37174	D|D	0.903169|0.903169	B;B|.	0.18610|.	0.01;0.029|.	B;B|.	0.24541|.	0.02;0.054|.	T|T	0.60276|0.60276	-0.7295|-0.7295	10|5	0.56958|.	D|.	0.05|.	-6.3732|-6.3732	15.2784|15.2784	0.73760|0.73760	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	839;853|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	A|P	805;774|777	ENSP00000400258:D774A|.	ENSP00000348366:D805A|.	D|T	+|+	2|1	0|0	DLGAP2|DLGAP2	1614059|1614059	1.000000|1.000000	0.71417|0.71417	0.046000|0.046000	0.18839|0.18839	0.011000|0.011000	0.07611|0.07611	3.546000|3.546000	0.53656|0.53656	2.003000|2.003000	0.58678|0.58678	0.528000|0.528000	0.53228|0.53228	GAC|ACA	-	pfam_GKAP		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	protein_coding	OTTHUMT00000374478.1	A	NM_004745	-		1626652	1	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	SNP	0.880	C	C	1626652	A	C	1626652	3	2	225	1	0	0	0	0	1	0	0	0	4562	275	10	5	2351	5	DLGAP2	8	1626652	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09		1626652	144737370	48	18161											
GPR124	25960	genome.wustl.edu	37	chr8	37698851	37698851	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctactgggagcgcgCgagtggggacgcccgggccc	17	13	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:37698851C>T	ENST00000412232.2	+	19	3008	c.2995C>T	c.(2995-2997)Cga>Tga	p.R999*	GPR124_ENST00000315215.7_Nonsense_Mutation_p.R782*	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	999					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)			TGGGAGCGCGCGAGTGGGGAC	0.672																																																	0								ENSG00000020181						15	18	17					8																	37698851		2197	4284	6481	GPR124	SO:0001587	stop_gained	0			-	HGNC	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.2995C>T	8.37:g.37698851C>T	ENSP00000406367:p.Arg999*	Somatic	0	42	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Nonsense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.R999*	ENST00000412232.2	37	c.2995	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490829	0.84962	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	.	.	.	4.95	3.12	0.35913	.	0.606407	0.17195	N	0.183341	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-8.5584	5.4928	0.16785	0.0775:0.1446:0.6393:0.1386	.	.	.	.	X	992;782;999	.	ENSP00000323508:R782X	R	+	1	2	GPR124	37818009	0.958000	0.32768	0.006000	0.13384	0.001000	0.01503	2.999000	0.49473	1.069000	0.40788	-0.171000	0.13296	CGA	-	NULL		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	protein_coding	OTTHUMT00000343331.2	C		-		37698851	1	no_errors	ENST00000412232	ensembl	human	known	74_37	nonsense	SNP	0.001	T	T	37698851	C	T	37698851	4	4	225	1	0	0	0	0	0	1	0	0	6640	760	27	1	3048	1	GPR124	8	37698851	Nonsense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	36072199	37698851	108665171	49	18162											
PRKDC	5591	genome.wustl.edu	37	chr8	48866457	48866457	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcacccaataatcctagGagctcatatactttttctaa	3	11	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:48866457G>A	ENST00000314191.2	-	6	587	c.531C>T	c.(529-531)ctC>ctT	p.L177L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L177L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	177					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAATCCTAGGAGCTCATATA	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						48	42	43					8																	48866457		1786	4050	5836	PRKDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.531C>T	8.37:g.48866457G>A		Somatic	0	14	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	7	61.11	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP							pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L177	ENST00000314191.2	37	c.531		8																																																																																			-	superfamily_ARM-type_fold		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		G	NM_001081640	-		48866457	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	SNP	0.879	A	A	48866457	G	A	48866457	2	1	225	1	0	0	0	0	0	0	0	1	12526	1161	41	2		2	PRKDC	8	48866457	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	11167606	48866457	97497565	50	18163											
SDCBP	6386	genome.wustl.edu	37	chr8	59494256	59494256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtaggatggcaccaaGcattatgaaaagcctaatgg	10	8	1	1	rs34911491		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:59494256G>T	ENST00000260130.4	+	9	1004	c.854G>T	c.(853-855)aGc>aTc	p.S285I	SDCBP_ENST00000447182.2_Missense_Mutation_p.S284I|SDCBP_ENST00000422546.2_Missense_Mutation_p.S284I|SDCBP_ENST00000413219.2_Missense_Mutation_p.S285I|SDCBP_ENST00000447267.2_Missense_Mutation_p.S231I|SDCBP_ENST00000424270.2_Missense_Mutation_p.S279I|SDCBP_ENST00000520168.1_Missense_Mutation_p.S226I|SDCBP_ENST00000523483.1_Missense_Mutation_p.S305I	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	285					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGGCACCAAGCATTATGAAA	0.383																																																	0								ENSG00000137575						134	119	124					8																	59494256		2203	4300	6503	SDCBP	SO:0001583	missense	0			-	HGNC	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.854G>T	8.37:g.59494256G>T	ENSP00000260130:p.Ser285Ile	Somatic	0	19	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S285I	ENST00000260130.4	37	c.854	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947821	0.73787	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.78	4.89	0.63831	PDZ/DHR/GLGF (1);	0.042915	0.85682	D	0.000000	T	0.44767	0.1309	M	0.82716	2.605	0.54753	D	0.999989	B;D;D;D	0.58970	0.196;0.976;0.984;0.961	B;D;D;P	0.70716	0.072;0.937;0.97;0.897	T	0.34675	-0.9819	9	.	.	.	-17.1602	15.7647	0.78117	0.0684:0.0:0.9316:0.0	.	226;305;279;285	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	I	285;284;284;285;279;305;226;231	ENSP00000260130:S285I;ENSP00000391687:S284I;ENSP00000409288:S284I;ENSP00000411771:S285I;ENSP00000395351:S279I;ENSP00000428184:S305I;ENSP00000430730:S226I;ENSP00000397820:S231I	.	S	+	2	0	SDCBP	59656810	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.953000	0.63624	2.894000	0.99253	0.591000	0.81541	AGC	-	superfamily_PDZ		0.383	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	protein_coding	OTTHUMT00000378193.1	G	NM_005625	-		59494256	1	no_errors	ENST00000260130	ensembl	human	known	74_37	missense	SNP	1.000	T	T	59494256	G	T	59494256	3	4	225	1	0	0	0	0	1	0	0	0	13963	971	34	3	884	3	SDCBP	8	59494256	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	10627799	59494256	86869766	51	18164											
CYP11B2	1585	genome.wustl.edu	37	chr8	143994116	143994116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcggcattgcgacccaGcgagtagaggaaaacctgta	13	10	0	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:143994116G>A	ENST00000323110.2	-	8	1230	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	410					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TTGCGACCCAGCGAGTAGAGG	0.617									Familial Hyperaldosteronism type I																																								0								ENSG00000179142						95	92	93					8																	143994116		2203	4300	6503	CYP11B2	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1228C>T	8.37:g.143994116G>A		Somatic	0	56	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	66	15.38	B0ZBE4|Q16726	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.L410	ENST00000323110.2	37	c.1228	CCDS6393.1	8																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B		0.617	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	protein_coding	OTTHUMT00000359904.1	G		-		143994116	-1	no_errors	ENST00000323110	ensembl	human	known	74_37	silent	SNP	0.893	A	A	143994116	G	A	143994116	2	1	225	1	0	0	0	0	0	0	0	1	4148	962	34	2		2	CYP11B2	8	143994116	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	84499860	143994116	2369906	52	18165											
IFNA6	3443	genome.wustl.edu	37	chr9	21350362	21350362	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaagtttcttgatgaagaGaaggatctcatgatttctgc	10	6	3	4			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr9:21350362G>T	ENST00000380210.1	-	1	1015	c.525C>A	c.(523-525)ttC>ttA	p.F175L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	175					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTGATGAAGAGAAGGATCTCA	0.438																																																	0								ENSG00000120235						278	273	274					9																	21350362		2203	4300	6503	IFNA6	SO:0001583	missense	0			-	HGNC		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"Interferons"	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.525C>A	9.37:g.21350362G>T	ENSP00000369558:p.Phe175Leu	Somatic	0	76	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5VYQ1	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.F175L	ENST00000380210.1	37	c.525	CCDS6504.1	9	.	.	.	.	.	.	.	.	.	.	G	2.863	-0.235619	0.05944	.	.	ENSG00000120235	ENST00000380210	T	0.03772	3.81	3.78	0.706	0.18133	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.414434	0.24771	N	0.035723	T	0.02230	0.0069	N	0.12569	0.235	0.09310	N	1	B	0.12013	0.005	B	0.29176	0.099	T	0.47799	-0.9089	10	0.02654	T	1	.	4.7513	0.13063	0.2166:0.186:0.5974:0.0	.	175	P05013	IFNA6_HUMAN	L	175	ENSP00000369558:F175L	ENSP00000369558:F175L	F	-	3	2	IFNA6	21340362	0.000000	0.05858	0.025000	0.17156	0.399000	0.30720	-0.594000	0.05733	-0.106000	0.12110	-0.216000	0.12614	TTC	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.438	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA6	protein_coding	OTTHUMT00000051905.1	G	NM_021002	-		21350362	-1	no_errors	ENST00000380210	ensembl	human	known	74_37	missense	SNP	0.205	T	T	21350362	G	T	21350362	3	4	225	1	0	0	0	0	1	0	0	0	7543	933	33	3	46	3	IFNA6	9	21350362	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		21350362	119863069	53	18166											
KIAA1958	158405	genome.wustl.edu	37	chr9	115337138	115337138	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatgtcacatctgccAtcagcacggagctagaccca	7	16	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr9:115337138A>T	ENST00000337530.6	+	2	1074	c.778A>T	c.(778-780)Atc>Ttc	p.I260F	KIAA1958_ENST00000536272.1_Missense_Mutation_p.I260F|KIAA1958_ENST00000374244.3_Missense_Mutation_p.I260F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	260										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CACATCTGCCATCAGCACGGA	0.537																																																	0								ENSG00000165185						218	188	198					9																	115337138		2203	4300	6503	KIAA1958	SO:0001583	missense	0			-	HGNC	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.778A>T	9.37:g.115337138A>T	ENSP00000336940:p.Ile260Phe	Somatic	0	13	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	4	60.00	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP							pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.I260F	ENST00000337530.6	37	c.778	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895882	0.33442	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.43294	0.95;0.95;0.95	6.07	2.53	0.30540	.	0.233195	0.35378	N	0.003241	T	0.17959	0.0431	N	0.14661	0.345	0.51233	D	0.999917	P;B	0.45902	0.868;0.244	B;B	0.34038	0.174;0.054	T	0.04708	-1.0932	10	0.17832	T	0.49	-9.9036	8.4289	0.32746	0.5871:0.3366:0.0763:0.0	.	260;260	B7ZKW6;Q8N8K9	.;K1958_HUMAN	F	260	ENSP00000336940:I260F;ENSP00000363362:I260F;ENSP00000440504:I260F	ENSP00000336940:I260F	I	+	1	0	KIAA1958	114376959	0.000000	0.05858	1.000000	0.80357	0.928000	0.56348	0.117000	0.15583	0.531000	0.28639	-0.264000	0.10439	ATC	-	NULL		0.537	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	protein_coding	OTTHUMT00000053690.1	A	NM_133465	-		115337138	1	no_errors	ENST00000536272	ensembl	human	known	74_37	missense	SNP	0.998	T	T	115337138	A	T	115337138	3	4	225	1	0	0	0	0	1	0	0	0	8266	217	8	5	780	5	KIAA1958	9	115337138	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	93986776	115337138	25876293	54	18167											
EDF1	8721	genome.wustl.edu	37	chr9	139760677	139760677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagggcccttcttgcgcaGcaccgtcaccgtgtcccagt	11	16	2	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr9:139760677G>A	ENST00000224073.1	-	1	61	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	EDF1_ENST00000371649.1_Silent_p.L12L|EDF1_ENST00000371648.4_Silent_p.L12L	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	12					endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTCTTGCGCAGCACCGTCACC	0.736																																																	0								ENSG00000107223						34	33	34					9																	139760677		2200	4297	6497	EDF1	SO:0001819	synonymous_variant	0			-	HGNC	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.34C>T	9.37:g.139760677G>A		Somatic	0	54	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	Q5T5T2|Q9UIM1	Silent	SNP							pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH	p.L12	ENST00000224073.1	37	c.34	CCDS7011.1	9																																																																																			-	pfam_MBF1_N		0.736	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	protein_coding	OTTHUMT00000055143.1	G		-		139760677	-1	no_errors	ENST00000224073	ensembl	human	known	74_37	silent	SNP	1.000	A	A	139760677	G	A	139760677	2	1	225	1	0	0	0	0	0	0	0	1	4916	962	34	2		2	EDF1	9	139760677	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	24423539	139760677	1452754	55	18168											
HPSE2	60495	genome.wustl.edu	37	chr10	100401673	100401673	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcaggaagtccatcaccttGaccacccggccatcaatgta	7	14	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr10:100401673G>C	ENST00000370552.3	-	7	1088	c.1029C>G	c.(1027-1029)gtC>gtG	p.V343V	HPSE2_ENST00000404542.1_Silent_p.V231V|HPSE2_ENST00000370546.1_Silent_p.V343V|HPSE2_ENST00000370549.1_Silent_p.V285V	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	343					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATCACCTTGACCACCCGGC	0.398																																																	0								ENSG00000172987						164	173	170					10																	100401673		2203	4300	6503	HPSE2	SO:0001819	synonymous_variant	0			-	HGNC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1029C>G	10.37:g.100401673G>C		Somatic	0	31	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP							pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.V343	ENST00000370552.3	37	c.1029	CCDS7477.1	10																																																																																			-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF		0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	protein_coding	OTTHUMT00000049789.1	G	NM_021828	-		100401673	-1	no_errors	ENST00000370552	ensembl	human	known	74_37	silent	SNP	1.000	C	C	100401673	G	C	100401673	2	2	225	1	0	0	0	0	0	0	0	1	7347	1277	45	4		4	HPSE2	10	100401673	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		100401673	35133074	56	18169											
HPS6	79803	genome.wustl.edu	37	chr10	103826184	103826184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggggtctgcagccctagGcacatttcagggcactctgg	15	11	3	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr10:103826184G>A	ENST00000299238.5	+	1	1038	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	318					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCAGCCCTAGGCACATTTCAG	0.632									Hermansky-Pudlak syndrome																																								0								ENSG00000166189						59	62	61					10																	103826184		2203	4300	6503	HPS6	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	-	HGNC	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.953G>A	10.37:g.103826184G>A	ENSP00000299238:p.Gly318Asp	Somatic	0	25	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q5VV69|Q9H685	Missense_Mutation	SNP							pirsf_BLOC-2_complex_Hps6_subunit	p.G318D	ENST00000299238.5	37	c.953	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422515	0.25639	.	.	ENSG00000166189	ENST00000299238	T	0.77098	-1.07	5.17	5.17	0.71159	.	0.497506	0.23235	N	0.050404	T	0.80722	0.4677	L	0.57536	1.79	0.34465	D	0.702156	D	0.67145	0.996	P	0.59889	0.865	T	0.80303	-0.1439	10	0.18276	T	0.48	-8.7464	9.7574	0.40510	0.1231:0.0:0.8769:0.0	.	318	Q86YV9	HPS6_HUMAN	D	318	ENSP00000299238:G318D	ENSP00000299238:G318D	G	+	2	0	HPS6	103816174	0.999000	0.42202	0.957000	0.39632	0.777000	0.43975	3.314000	0.51943	2.681000	0.91329	0.561000	0.74099	GGC	-	pirsf_BLOC-2_complex_Hps6_subunit		0.632	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	protein_coding	OTTHUMT00000050018.2	G	NM_024747	-		103826184	1	no_errors	ENST00000299238	ensembl	human	known	74_37	missense	SNP	0.964	A	A	103826184	G	A	103826184	3	1	225	1	0	0	0	0	1	0	0	0	7345	1203	42	2	955	2	HPS6	10	103826184	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	3424511	103826184	31708563	57	18170											
CAPN5	726	genome.wustl.edu	37	chr11	76823688	76823688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaaagcccaacgcctaCgcgggcatcttccacttcca	7	18	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr11:76823688C>T	ENST00000278559.3	+	4	540	c.351C>T	c.(349-351)taC>taT	p.Y117Y	CAPN5_ENST00000456580.2_Silent_p.Y157Y|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.Y117Y	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	117	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Y117Y(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCAACGCCTACGCGGGCATCT	0.607																																																	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)						ENSG00000149260						112	95	101					11																	76823688		2200	4292	6492	CAPN5	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.351C>T	11.37:g.76823688C>T		Somatic	0	21	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	O00263	Silent	SNP							pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y117	ENST00000278559.3	37	c.351	CCDS8248.1	11																																																																																			-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.607	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	protein_coding	OTTHUMT00000382564.2	C	NM_004055	-		76823688	1	no_errors	ENST00000278559	ensembl	human	known	74_37	silent	SNP	0.020	T	T	76823688	C	T	76823688	2	4	225	1	0	0	0	0	0	0	0	1	2631	547	19	1		1	CAPN5	11	76823688	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		76823688	58182828	58	18171											
ANKRD42	338699	genome.wustl.edu	37	chr11	82935896	82935896	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttttttcctttcctctaGttcacttagcagccatggaa	5	10	2	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr11:82935896G>T	ENST00000393392.2	+	6	664		c.e6-1		ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000260047.6_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTTTCCTCTAGTTCACTTAGC	0.333																																																	0								ENSG00000137494						56	56	56					11																	82935896		2203	4300	6503	ANKRD42	SO:0001630	splice_region_variant	0			-	HGNC	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.503-1G>T	11.37:g.82935896G>T		Somatic	0	37	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q49A49	Splice_Site	SNP							-	e6-1	ENST00000393392.2	37	c.503-1	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810920	0.70797	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5429	0.91035	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD42	82613544	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.638000	0.74309	2.666000	0.90696	0.655000	0.94253	.	-	-		0.333	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	protein_coding	OTTHUMT00000392934.1	G	NM_182603	-	Intron	82935896	1	no_errors	ENST00000393392	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	82935896	G	T	82935896	5	4	225	1	0	0	0	0	0	0	1	0	670	1043	36	3	524	3	ANKRD42	11	82935896	Splice_Site	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	6112208	82935896	52070620	59	18172											
KDELC2	143888	genome.wustl.edu	37	chr11	108357048	108357048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagcatttgctggagatTgatgctgggaaaggaagcaa	13	4	0	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr11:108357048T>C	ENST00000323468.5	-	3	585	c.520A>G	c.(520-522)Aat>Gat	p.N174D	KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000375648.1_Missense_Mutation_p.N118D|KDELC2_ENST00000434945.2_Missense_Mutation_p.N118D	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	174						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGCTGGAGATTGATGCTGGGA	0.458																																																	0								ENSG00000178202						167	151	156					11																	108357048		1866	4104	5970	KDELC2	SO:0001583	missense	0			-	HGNC	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.520A>G	11.37:g.108357048T>C	ENSP00000315386:p.Asn174Asp	Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP							pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.N174D	ENST00000323468.5	37	c.520	CCDS41711.1	11	.	.	.	.	.	.	.	.	.	.	T	4.704	0.130873	0.08981	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.21543	2.0;2.0;2.0	4.68	3.56	0.40772	.	0.140567	0.64402	D	0.000007	T	0.06645	0.0170	N	0.03268	-0.37	0.33939	D	0.64303	B;B	0.10296	0.003;0.001	B;B	0.17979	0.02;0.007	T	0.27157	-1.0082	10	0.05833	T	0.94	-27.3271	5.0227	0.14369	0.0:0.3322:0.0:0.6678	.	174;118	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	D	174;118;118	ENSP00000315386:N174D;ENSP00000413429:N118D;ENSP00000364799:N118D	ENSP00000315386:N174D	N	-	1	0	KDELC2	107862258	0.981000	0.34729	1.000000	0.80357	0.978000	0.69477	1.047000	0.30367	1.113000	0.41760	0.533000	0.62120	AAT	-	pfam_LipoPS_modifying		0.458	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC2	protein_coding	OTTHUMT00000390273.1	T	NM_153705	-		108357048	-1	no_errors	ENST00000323468	ensembl	human	known	74_37	missense	SNP	1.000	C	C	108357048	T	C	108357048	3	2	225	1	0	0	0	0	1	0	0	0	8120	1812	63	5	1027	5	KDELC2	11	108357048	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	25421152	108357048	26649468	60	18173											
CDON	50937	genome.wustl.edu	37	chr11	125880373	125880373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacaggacgaagtacacaGgctccaggttcaagccctca	12	12	2	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr11:125880373G>T	ENST00000392693.3	-	8	1542	c.1415C>A	c.(1414-1416)cCt>cAt	p.P472H	CDON_ENST00000263577.7_Missense_Mutation_p.P472H	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	472	Ig-like C2-type 5.				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)		GAAGTACACAGGCTCCAGGTT	0.488																																																	0								ENSG00000064309						160	150	154					11																	125880373		2201	4299	6500	CDON	SO:0001583	missense	0			-	HGNC	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.1415C>A	11.37:g.125880373G>T	ENSP00000376458:p.Pro472His	Somatic	0	51	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O14631	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P472H	ENST00000392693.3	37	c.1415	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175874	0.38413	.	.	ENSG00000064309	ENST00000392693;ENST00000263577	T;T	0.28454	1.61;1.61	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000104	T	0.48960	0.1529	L	0.52573	1.65	0.34411	D	0.696403	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.952	T	0.61282	-0.7094	10	0.72032	D	0.01	-20.0433	14.4144	0.67139	0.0:0.1487:0.8513:0.0	.	472;472	Q4KMG0;Q4KMG0-2	CDON_HUMAN;.	H	472	ENSP00000376458:P472H;ENSP00000263577:P472H	ENSP00000263577:P472H	P	-	2	0	CDON	125385583	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.844000	0.62846	2.572000	0.86782	0.591000	0.81541	CCT	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.488	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	G	NM_016952	-		125880373	-1	no_errors	ENST00000392693	ensembl	human	known	74_37	missense	SNP	0.997	T	T	125880373	G	T	125880373	3	4	225	1	0	0	0	0	1	0	0	0	3172	1000	35	3	2431	3	CDON	11	125880373	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	17523325	125880373	9126143	61	18174											
WNK1	65125	genome.wustl.edu	37	chr12	988968	988968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccatcacaatggcagctgGcattactcagcctctgctca	7	15	4	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:988968G>T	ENST00000315939.6	+	11	3246	c.2603G>T	c.(2602-2604)gGc>gTc	p.G868V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1366V|WNK1_ENST00000340908.4_Missense_Mutation_p.G461V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	868					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)			ATGGCAGCTGGCATTACTCAG	0.527																																					Colon(19;451 567 6672 12618 28860)												0								ENSG00000060237						163	136	145					12																	988968		2203	4300	6503	WNK1	SO:0001583	missense	0			-	HGNC	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.2603G>T	12.37:g.988968G>T	ENSP00000313059:p.Gly868Val	Somatic	0	30	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1366V	ENST00000315939.6	37	c.4097	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283594	0.40394	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.53	5.53	0.82687	.	0.098484	0.44688	D	0.000421	T	0.31071	0.0785	L	0.29908	0.895	0.54753	D	0.999981	D	0.54047	0.964	P	0.55785	0.784	T	0.01090	-1.1455	10	0.42905	T	0.14	-7.0602	19.4537	0.94878	0.0:0.0:1.0:0.0	.	868	Q9H4A3	WNK1_HUMAN	V	868;1366;461;138	ENSP00000313059:G868V;ENSP00000433548:G1366V;ENSP00000341292:G461V;ENSP00000439552:G138V	ENSP00000313059:G868V	G	+	2	0	WNK1	859229	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.729000	0.54999	2.584000	0.87258	0.557000	0.71058	GGC	-	NULL		0.527	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	G	NM_018979	-		988968	1	no_errors	ENST00000530271	ensembl	human	known	74_37	missense	SNP	1.000	T	T	988968	G	T	988968	3	4	225	1	0	0	0	0	1	0	0	0	17384	1203	42	3	4147	3	WNK1	12	988968	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		988968	132862927	62	18175											
PDE1B	5153	genome.wustl.edu	37	chr12	54966992	54966992	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgcagctatccatgattatGagcacacgggcactaccaac	8	13	0	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:54966992G>T	ENST00000243052.3	+	8	1232	c.796G>T	c.(796-798)Gag>Tag	p.E266*	PDE1B_ENST00000550620.1_Nonsense_Mutation_p.E246*|PDE1B_ENST00000538346.1_Nonsense_Mutation_p.E225*|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	266	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCATGATTATGAGCACACGGG	0.582																																																	0								ENSG00000123360						127	111	116					12																	54966992		2203	4300	6503	PDE1B	SO:0001587	stop_gained	0			-	HGNC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.796G>T	12.37:g.54966992G>T	ENSP00000243052:p.Glu266*	Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q92825|Q96KP3	Nonsense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.E266*	ENST00000243052.3	37	c.796	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.558883	0.97663	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	.	.	.	4.97	4.97	0.65823	.	0.062472	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1331	0.81458	0.0:0.0:1.0:0.0	.	.	.	.	X	266;225;246	.	ENSP00000243052:E266X	E	+	1	0	PDE1B	53253259	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.763000	0.94921	0.650000	0.86243	GAG	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.582	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	protein_coding	OTTHUMT00000406203.1	G		-		54966992	1	no_errors	ENST00000243052	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	54966992	G	T	54966992	4	4	225	1	0	0	0	0	0	1	0	0	11636	1291	45	3	879	3	PDE1B	12	54966992	Nonsense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	53978024	54966992	78884903	63	18176											
GNPTAB	79158	genome.wustl.edu	37	chr12	102155456	102155456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttttatttacatatctgaggGaatctgcaaatgtatctttt	6	5	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:102155456G>T	ENST00000299314.7	-	14	3063	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	934					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						ATATCTGAGGGAATCTGCAAA	0.383																																																	0								ENSG00000111670						174	165	168					12																	102155456		2203	4300	6503	GNPTAB	SO:0001583	missense	0			-	HGNC	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.2801C>A	12.37:g.102155456G>T	ENSP00000299314:p.Ser934Tyr	Somatic	0	34	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP							pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.S934Y	ENST00000299314.7	37	c.2801	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545517	0.86022	.	.	ENSG00000111670	ENST00000299314	D	0.92149	-2.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96719	0.9531	10	0.87932	D	0	-19.6086	20.0374	0.97568	0.0:0.0:1.0:0.0	.	934	Q3T906	GNPTA_HUMAN	Y	934	ENSP00000299314:S934Y	ENSP00000299314:S934Y	S	-	2	0	GNPTAB	100679587	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	9.476000	0.97823	2.739000	0.93911	0.655000	0.94253	TCC	-	NULL		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	protein_coding	OTTHUMT00000409182.1	G		-		102155456	-1	no_errors	ENST00000299314	ensembl	human	known	74_37	missense	SNP	1.000	T	T	102155456	G	T	102155456	3	4	225	1	0	0	0	0	1	0	0	0	6547	1174	41	3	1001	3	GNPTAB	12	102155456	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	47188464	102155456	31696439	64	18177											
PIWIL1	9271	genome.wustl.edu	37	chr12	130831551	130831551	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacgatcactttaacaaaTgaacttccacctacatcacc	2	13	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:130831551T>C	ENST00000245255.3	+	6	869	c.597T>C	c.(595-597)aaT>aaC	p.N199N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	199					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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTTTAACAAATGAACTTCCAC	0.348																																																	0								ENSG00000125207						127	121	123					12																	130831551		2203	4300	6503	PIWIL1	SO:0001819	synonymous_variant	0			-	HGNC	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.597T>C	12.37:g.130831551T>C		Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.N199	ENST00000245255.3	37	c.597	CCDS9268.1	12																																																																																			-	superfamily_PAZ_dom		0.348	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	protein_coding	OTTHUMT00000399510.1	T		-		130831551	1	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	SNP	0.999	C	C	130831551	T	C	130831551	2	2	225	1	0	0	0	0	0	0	0	1	11959	1461	51	5		5	PIWIL1	12	130831551	Silent	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	28676095	130831551	3020344	65	18178											
EP400	57634	genome.wustl.edu	37	chr12	132522547	132522547	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccatggatgatgctgGcttcccggtcaaagctgagg	12	11	2	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:132522547G>T	ENST00000333577.4	+	33	6330	c.6221G>T	c.(6220-6222)gGc>gTc	p.G2074V	EP400_ENST00000330386.6_Missense_Mutation_p.G1957V|EP400_ENST00000332482.4_Missense_Mutation_p.G2001V|EP400_ENST00000389562.2_Missense_Mutation_p.G2037V|EP400_ENST00000389561.2_Missense_Mutation_p.G2038V			Q96L91	EP400_HUMAN	E1A binding protein p400	2074					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)		GATGATGCTGGCTTCCCGGTC	0.478																																																	0								ENSG00000183495						223	203	210					12																	132522547		2203	4300	6503	EP400	SO:0001583	missense	0			-	HGNC	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.6221G>T	12.37:g.132522547G>T	ENSP00000333602:p.Gly2074Val	Somatic	0	37	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G2074V	ENST00000333577.4	37	c.6221		12	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390939	0.25118	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90385	-2.66;-2.65;-2.66;-2.66;-2.66	5.43	5.43	0.79202	.	0.052730	0.85682	D	0.000000	D	0.92136	0.7507	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.98;0.98	D	0.93378	0.6741	10	0.72032	D	0.01	.	19.2486	0.93913	0.0:0.0:1.0:0.0	.	2038;1957;2037	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	V	2074;2038;2037;2001;1957;2038	ENSP00000333602:G2074V;ENSP00000374212:G2038V;ENSP00000374213:G2037V;ENSP00000331737:G2001V;ENSP00000330620:G1957V	ENSP00000330620:G1957V	G	+	2	0	EP400	131088500	1.000000	0.71417	0.998000	0.56505	0.268000	0.26511	4.421000	0.59848	2.534000	0.85438	0.650000	0.86243	GGC	-	NULL		0.478	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409	-		132522547	1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132522547	G	T	132522547	3	4	225	1	0	0	0	0	1	0	0	0	5151	1203	42	3	6232	3	EP400	12	132522547	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	1690996	132522547	1329348	66	18179											
GALNT9	50614	genome.wustl.edu	37	chr12	132685742	132685742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtaccacttgaagctgCgacacttcagcctctgacgc	9	15	2	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:132685742C>T	ENST00000328957.8	-	8	1327	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GALNT9_ENST00000535228.1_Missense_Mutation_p.R194H|GALNT9_ENST00000397325.2_Missense_Mutation_p.R77H|GALNT9_ENST00000541995.1_Missense_Mutation_p.R77H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	443					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTTGAAGCTGCGACACTTCAG	0.607																																					Colon(186;2147 2752 13553 41466)												0								ENSG00000182870						69	83	78					12																	132685742		2138	4242	6380	GALNT9	SO:0001583	missense	0			-	HGNC	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1328G>A	12.37:g.132685742C>T	ENSP00000329846:p.Arg443His	Somatic	0	38	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP							pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R443H	ENST00000328957.8	37	c.1328		12	.	.	.	.	.	.	.	.	.	.	c	20.6	4.017356	0.75161	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.39	3.49	0.39957	.	0.114433	0.64402	N	0.000014	T	0.36936	0.0985	L	0.31926	0.97	0.49130	D	0.999757	D;P;P	0.71674	0.998;0.951;0.951	P;P;B	0.58172	0.834;0.635;0.444	T	0.10337	-1.0634	10	0.54805	T	0.06	.	11.9413	0.52903	0.0:0.9138:0.0:0.0862	.	194;443;300	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	H	77;443;194;77;77	ENSP00000380488:R77H;ENSP00000329846:R443H;ENSP00000439745:R194H;ENSP00000440544:R77H;ENSP00000444709:R77H	ENSP00000329846:R443H	R	-	2	0	GALNT9	131251695	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	2.498000	0.45363	0.814000	0.34374	0.462000	0.41574	CGC	-	NULL		0.607	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	protein_coding	OTTHUMT00000402967.1	C	NM_001122636	-		132685742	-1	no_errors	ENST00000328957	ensembl	human	known	74_37	missense	SNP	1.000	T	T	132685742	C	T	132685742	3	4	225	1	0	0	0	0	1	0	0	0	6222	768	27	1	499	1	GALNT9	12	132685742	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	163195	132685742	1166153	67	18180											
EDNRB	1910	genome.wustl.edu	37	chr13	78492295	78492295	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagccaagctggcgatcaaGatattgggaccgtttcgcat	12	9	1	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr13:78492295G>T	ENST00000334286.5	-	1	650	c.414C>A	c.(412-414)atC>atA	p.I138I	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000377211.4_Silent_p.I228I|EDNRB_ENST00000475537.1_5'Flank|EDNRB_ENST00000446573.1_Silent_p.I138I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	138					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGGCGATCAAGATATTGGGAC	0.512																																																	0								ENSG00000136160						126	114	118					13																	78492295		2203	4300	6503	EDNRB	SO:0001819	synonymous_variant	0			-	HGNC	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.414C>A	13.37:g.78492295G>T		Somatic	0	43	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.I138	ENST00000334286.5	37	c.414	CCDS9461.1	13																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.512	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	protein_coding	OTTHUMT00000276505.1	G		-		78492295	-1	no_errors	ENST00000334286	ensembl	human	known	74_37	silent	SNP	1.000	T	T	78492295	G	T	78492295	2	4	225	1	0	0	0	0	0	0	0	1	4922	932	33	3		3	EDNRB	13	78492295	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		78492295	36677583	68	18181											
RNASE8	122665	genome.wustl.edu	37	chr14	21526107	21526107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcttctggggctgtGggtggcagaggtcctagtca	17	9	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr14:21526107G>T	ENST00000308227.2	+	1	127	c.56G>T	c.(55-57)tGg>tTg	p.W19L	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	19					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		CTGGGGCTGTGGGTGGCAGAG	0.567																																																	0								ENSG00000173431						95	78	84					14																	21526107		2203	4300	6503	RNASE8	SO:0001583	missense	0			-	HGNC	AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"Ribonucleases, RNase A"	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.56G>T	14.37:g.21526107G>T	ENSP00000311398:p.Trp19Leu	Somatic	0	30	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	B2RPP6|B2RPP7	Missense_Mutation	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.W19L	ENST00000308227.2	37	c.56	CCDS9567.1	14	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822730	0.32237	.	.	ENSG00000173431	ENST00000308227	T	0.75938	-0.98	4.17	3.28	0.37604	.	0.427833	0.20321	N	0.094629	T	0.74512	0.3726	L	0.43923	1.385	0.20563	N	0.999885	D	0.58970	0.984	P	0.56823	0.807	T	0.63607	-0.6599	10	0.49607	T	0.09	-15.6422	7.9427	0.29967	0.1134:0.0:0.8866:0.0	.	19	Q8TDE3	RNAS8_HUMAN	L	19	ENSP00000311398:W19L	ENSP00000311398:W19L	W	+	2	0	RNASE8	20595947	1.000000	0.71417	0.914000	0.36105	0.455000	0.32408	1.558000	0.36309	1.084000	0.41184	0.655000	0.94253	TGG	-	NULL		0.567	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE8	protein_coding	OTTHUMT00000073925.3	G	NM_138331	-		21526107	1	no_errors	ENST00000308227	ensembl	human	known	74_37	missense	SNP	0.993	T	T	21526107	G	T	21526107	3	4	225	1	0	0	0	0	1	0	0	0	13417	1357	47	3	58	3	RNASE8	14	21526107	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		21526107	85823433	69	18182											
WDHD1	11169	genome.wustl.edu	37	chr14	55480246	55480246	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaacattaatgaacTtaggatcatcatcatccaag	4	10	4	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr14:55480246T>A	ENST00000360586.3	-	3	211	c.146A>T	c.(145-147)aAg>aTg	p.K49M	WDHD1_ENST00000420358.2_De_novo_Start_InFrame|WDHD1_ENST00000421192.1_De_novo_Start_InFrame	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	49					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATTAATGAACTTAGGATCATC	0.338																																																	0								ENSG00000198554						169	144	153					14																	55480246		2203	4300	6503	WDHD1	SO:0001583	missense	0			-	HGNC	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.146A>T	14.37:g.55480246T>A	ENSP00000353793:p.Lys49Met	Somatic	0	29	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	C9JW18|F6W0U7	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K49M	ENST00000360586.3	37	c.146	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176622	0.78564	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;D	0.81499	4.9;-1.5	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.89193	0.3552	10	0.56958	D	0.05	.	16.2129	0.82178	0.0:0.0:0.0:1.0	.	49	O75717	WDHD1_HUMAN	M	49	ENSP00000353793:K49M;ENSP00000413435:K49M	ENSP00000353793:K49M	K	-	2	0	WDHD1	54549996	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.600000	0.61083	2.220000	0.72140	0.482000	0.46254	AAG	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.338	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	protein_coding	OTTHUMT00000276897.2	T	NM_007086	-		55480246	-1	no_errors	ENST00000360586	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55480246	T	A	55480246	3	1	225	1	0	0	0	0	1	0	0	0	17278	1609	56	5	3339	5	WDHD1	14	55480246	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	33954139	55480246	51869294	70	18183											
C14orf4	64207	genome.wustl.edu	37	chr14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-													gctgctgctgctgctgctgcTgttgctgctgctgctgctgc					rs377151545|rs28718623|rs71125518	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)caacag>cag	p.114_115QQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgttgctgctgct	0.7																																																	0								ENSG00000119669			1119,1147		390,339,404						-1.3	0			2	2585,1523		1057,471,526	no	coding	IRF2BPL	NM_024496.2		1447,810,930	A1A1,A1R,RR		37.074,49.3822,41.8889				3704,2670				IRF2BPL	SO:0001651	inframe_deletion	0				HGNC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342_344delACA	14.37:g.77493792_77493794delTGT	ENSP00000238647:p.Gln127del	Somatic	0	8	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL							pfam_Interferon_reg_fac2-bd1_2_Znf	p.Q118in_frame_del	ENST00000238647.3	37	c.344_342	CCDS9854.1	14																																																																																			-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.7	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	protein_coding	OTTHUMT00000414298.1	TGT	NM_024496			77493794	-1	no_errors	ENST00000238647	ensembl	human	known	74_37	in_frame_del	DEL	0.050:0.052:0.060	-	-	77493794	TGT	-	77493792	7	5	225	1	0	1	0	1	0	0	0	0	1775	1580	55	0	2050	0	C14orf4	14	77493792	In_Frame_Del	DEL	TGT	TCGA-WK-A8XX-01A-11D-A37C-09	22013546	77493792	29855748	71	18184											
RYR3	6263	genome.wustl.edu	37	chr15	33936613	33936613	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataccatgtgcggtctccaaGagggctttgagccttttgct	11	10	1	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr15:33936613G>T	ENST00000389232.4	+	28	3728	c.3658G>T	c.(3658-3660)Gag>Tag	p.E1220*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E1220*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1220	4 X approximate repeats.				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)		CGGTCTCCAAGAGGGCTTTGA	0.512																																																	0								ENSG00000198838						80	80	80					15																	33936613		1925	4141	6066	RYR3	SO:0001587	stop_gained	0			-	HGNC		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.3658G>T	15.37:g.33936613G>T	ENSP00000373884:p.Glu1220*	Somatic	0	34	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O15175|Q15412	Nonsense_Mutation	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1220*	ENST00000389232.4	37	c.3658	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	45	11.344936	0.99549	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1356	0.93426	0.0:0.0:1.0:0.0	.	.	.	.	X	1220	.	ENSP00000354735:E1220X	E	+	1	0	RYR3	31723905	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.488000	0.97947	2.826000	0.97356	0.655000	0.94253	GAG	-	NULL		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		33936613	1	no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	33936613	G	T	33936613	4	4	225	1	0	0	0	0	0	1	0	0	13778	943	33	3	3768	3	RYR3	15	33936613	Nonsense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		33936613	68594779	72	18185											
LEO1	123169	genome.wustl.edu	37	chr15	52258498	52258498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacgctcagaagcttctgAtctattgtctgatctttcag	8	9	6	4			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr15:52258498A>G	ENST00000299601.5	-	2	322	c.262T>C	c.(262-264)Tca>Cca	p.S88P	LEO1_ENST00000315141.5_Missense_Mutation_p.S88P	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	88	Asp-rich.				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)		GAAGCTTCTGATCTATTGTCT	0.448																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0								ENSG00000166477						200	181	187					15																	52258498		2195	4293	6488	LEO1	SO:0001583	missense	0			-	HGNC	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.262T>C	15.37:g.52258498A>G	ENSP00000299601:p.Ser88Pro	Somatic	0	38	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q96N99	Missense_Mutation	SNP							pfam_Leo1	p.S88P	ENST00000299601.5	37	c.262	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235725	0.79800	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.59	4.44	0.53790	.	0.199976	0.44688	D	0.000424	T	0.64472	0.2601	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.971;0.998	P;D	0.75484	0.776;0.986	T	0.64483	-0.6397	9	0.52906	T	0.07	.	11.8043	0.52145	0.8684:0.0:0.0:0.1316	.	88;88	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	P	88	.	ENSP00000299601:S88P	S	-	1	0	LEO1	50045790	1.000000	0.71417	0.961000	0.40146	0.926000	0.56050	7.243000	0.78219	0.908000	0.36671	0.533000	0.62120	TCA	-	NULL		0.448	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	protein_coding	OTTHUMT00000254791.2	A	NM_138792	-		52258498	-1	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	SNP	0.999	G	G	52258498	A	G	52258498	3	3	225	1	0	0	0	0	1	0	0	0	8728	333	12	5	1782	5	LEO1	15	52258498	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	18321885	52258498	50272894	73	18186											
PIAS1	8554	genome.wustl.edu	37	chr15	68468089	68468089	+	Frame_Shift_Del	DEL	T	T	-													gtacaggaagtttctgcctcTtacaatggagtcgatggtga							TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr15:68468089delT	ENST00000249636.6	+	10	1432	c.1284delT	c.(1282-1284)tctfs	p.S428fs	PIAS1_ENST00000545237.1_Frame_Shift_Del_p.S430fs	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	428					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TTTCTGCCTCTTACAATGGAG	0.388																																																	0								ENSG00000033800						78	78	78					15																	68468089		1873	4105	5978	PIAS1	SO:0001589	frameshift_variant	0				HGNC	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1284delT	15.37:g.68468089delT	ENSP00000249636:p.Ser428fs	Somatic	0	39	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Frame_Shift_Del	DEL							pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.Y429fs	ENST00000249636.6	37	c.1284	CCDS45290.1	15																																																																																			-	NULL		0.388	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	protein_coding	OTTHUMT00000419642.2	T				68468089	1	no_errors	ENST00000249636	ensembl	human	known	74_37	frame_shift_del	DEL	0.985	-	-	68468089	T	-	68468089	7	5	225	1	0	1	0	1	0	0	0	0	11877	1596	56	0	1322	0	PIAS1	15	68468089	Frame_Shift_Del	DEL	T	TCGA-WK-A8XX-01A-11D-A37C-09	16209591	68468089	34063303	74	18187											
A2BP1	54715	genome.wustl.edu	37	chr16	7568226	7568226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgctcccccgcagaaCggtatccccgcggaatacac	9	16	0	1	rs542828240		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:7568226C>A	ENST00000550418.1	+	5	1093	c.105C>A	c.(103-105)aaC>aaA	p.N35K	RBFOX1_ENST00000547338.1_Missense_Mutation_p.N35K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.N78K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.N35K|RBFOX1_ENST00000340209.4_Missense_Mutation_p.N40K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.N71K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.N55K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.N55K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.N78K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.N71K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.N55K	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	35					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCGCAGAACGGTATCCCCG	0.597																																					Ovarian(157;934 2567 15163 39509)												0								ENSG00000078328						127	127	127					16																	7568226		2197	4300	6497	RBFOX1	SO:0001583	missense	0			-	HGNC	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.105C>A	16.37:g.7568226C>A	ENSP00000450031:p.Asn35Lys	Somatic	0	33	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP							pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.N78K	ENST00000550418.1	37	c.234	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508913	0.64410	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34072	1.82;1.4;1.81;1.7;1.69;1.78;1.4;1.52;1.69;1.66;1.38	4.85	1.37	0.22104	.	0.112694	0.56097	D	0.000024	T	0.51991	0.1707	M	0.68952	2.095	0.49299	D	0.999779	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.921;0.952;0.996;0.998;0.982;0.994;1.0;0.999;1.0	T	0.50440	-0.8828	10	0.72032	D	0.01	-10.6494	8.0799	0.30739	0.0:0.5778:0.0:0.4222	.	55;71;78;55;55;55;35;35;78	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	K	35;35;35;78;78;71;71;35;35;55;55;55;55;40	ENSP00000450402:N35K;ENSP00000450031:N35K;ENSP00000447753:N35K;ENSP00000446842:N78K;ENSP00000391269:N78K;ENSP00000447281:N35K;ENSP00000447717:N35K;ENSP00000402745:N55K;ENSP00000309117:N55K;ENSP00000347855:N55K;ENSP00000344196:N40K	ENSP00000309117:N55K	N	+	3	2	RBFOX1	7508227	0.994000	0.37717	1.000000	0.80357	0.923000	0.55619	0.261000	0.18442	0.443000	0.26582	-0.262000	0.10625	AAC	-	pirsf_RNA-bd_Fox-1		0.597	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	protein_coding	OTTHUMT00000409492.2	C	NM_145891	-		7568226	1	no_errors	ENST00000547372	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7568226	C	A	7568226	3	1	225	1	0	0	0	0	1	0	0	0	3	535	19	3	202	3	A2BP1	16	7568226	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		7568226	82786527	75	18188											
RBBP6	5930	genome.wustl.edu	37	chr16	24583338	24583338	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagtgaaagtaatgttTctgtaaaagaagaggaatct	11	3	2	4			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:24583338T>A	ENST00000319715.4	+	18	5383	c.4951T>A	c.(4951-4953)Tct>Act	p.S1651T	RBBP6_ENST00000348022.2_Missense_Mutation_p.S1617T|RBBP6_ENST00000381039.3_Missense_Mutation_p.S811T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1651					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGTAATGTTTCTGTAAAAGA	0.383																																																	0								ENSG00000122257						74	82	80					16																	24583338		2195	4299	6494	RBBP6	SO:0001583	missense	0			-	HGNC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4951T>A	16.37:g.24583338T>A	ENSP00000317872:p.Ser1651Thr	Somatic	0	18	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP							pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1651T	ENST00000319715.4	37	c.4951	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	T	17.13	3.309580	0.60414	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.23754	1.89;2.21;2.18	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000005	T	0.39733	0.1089	L	0.29908	0.895	0.41902	D	0.990425	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	T	0.12760	-1.0535	10	0.36615	T	0.2	-18.3689	16.3951	0.83601	0.0:0.0:0.0:1.0	.	811;1617;1651	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	T	811;1651;1617	ENSP00000370427:S811T;ENSP00000317872:S1651T;ENSP00000316291:S1617T	ENSP00000317872:S1651T	S	+	1	0	RBBP6	24490839	1.000000	0.71417	0.783000	0.31826	0.921000	0.55340	6.810000	0.75216	2.272000	0.75746	0.460000	0.39030	TCT	-	NULL		0.383	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	T	NM_006910	-		24583338	1	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	SNP	0.998	A	A	24583338	T	A	24583338	3	1	225	1	0	0	0	0	1	0	0	0	13111	1783	62	5	5075	5	RBBP6	16	24583338	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	17015112	24583338	65771415	76	18189											
ZNF629	23361	genome.wustl.edu	37	chr16	30794309	30794309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtggatgcgctggtggCggataagggtggagctcatg	20	6	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:30794309C>T	ENST00000262525.4	-	3	1547	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	447					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(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCGCTGGTGGCGGATAAGGGT	0.627																																																	0								ENSG00000102870						74	83	80					16																	30794309		2197	4300	6497	ZNF629	SO:0001583	missense	0			-	HGNC	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1340G>A	16.37:g.30794309C>T	ENSP00000262525:p.Arg447His	Somatic	0	52	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	Q15938	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R447H	ENST00000262525.4	37	c.1340	CCDS45463.1	16	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833828	0.50951	.	.	ENSG00000102870	ENST00000262525	T	0.26810	1.71	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000353	T	0.44582	0.1300	L	0.55743	1.74	0.34078	D	0.659292	D	0.89917	1.0	D	0.83275	0.996	T	0.54337	-0.8309	10	0.44086	T	0.13	-61.6949	12.1679	0.54141	0.0:0.921:0.0:0.079	.	447	Q9UEG4	ZN629_HUMAN	H	447	ENSP00000262525:R447H	ENSP00000262525:R447H	R	-	2	0	ZNF629	30701810	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.273000	0.02823	2.735000	0.93741	0.561000	0.74099	CGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	protein_coding	OTTHUMT00000434291.1	C	NM_015309	-		30794309	-1	no_errors	ENST00000262525	ensembl	human	known	74_37	missense	SNP	1.000	T	T	30794309	C	T	30794309	3	4	225	1	0	0	0	0	1	0	0	0	18060	768	27	1	1273	1	ZNF629	16	30794309	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	6210971	30794309	59560444	77	18190											
NFAT5	10725	genome.wustl.edu	37	chr16	69729107	69729124	+	In_Frame_Del	DEL	GGCCAACCACAAAACGAG	GGCCAACCACAAAACGAG	-													tgatggccataagtcagccaGgccaaccacaaaacgagggc							TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	GGCCAACCACAAAACGAG	GGCCAACCACAAAACGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:69729107_69729124delGGCCAACCACAAAACGAG	ENST00000354436.2	+	13	4747_4764	c.4429_4446delGGCCAACCACAAAACGAG	c.(4429-4446)ggccaaccacaaaacgagdel	p.GQPQNE1477del	NFAT5_ENST00000566899.1_In_Frame_Del_p.GQPQNE1401del|NFAT5_ENST00000567239.1_In_Frame_Del_p.GQPQNE1494del|NFAT5_ENST00000349945.1_In_Frame_Del_p.GQPQNE1401del|NFAT5_ENST00000393742.2_In_Frame_Del_p.GQPQNE1401del|NFAT5_ENST00000432919.1_In_Frame_Del_p.GQPQNE1495del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1477					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAGTCAGCCAGGCCAACCACAAAACGAGGGCCAGCCAC	0.454																																																	0								ENSG00000102908																																			NFAT5	SO:0001651	inframe_deletion	0				HGNC	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4429_4446delGGCCAACCACAAAACGAG	16.37:g.69729107_69729124delGGCCAACCACAAAACGAG	ENSP00000346420:p.Gly1477_Glu1482del	Somatic					0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL							pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.QNEGQP1498in_frame_del	ENST00000354436.2	37	c.4483_4500	CCDS10881.1	16																																																																																			-	NULL		0.454	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	protein_coding	OTTHUMT00000268952.2	GGCCAACCACAAAACGAG	NM_138714			69729124	1	no_errors	ENST00000432919	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.997:1.000:1.000:0.987:1.000:1.000:0.988:1.000:1.000:1.000:0.998:0.985:0.965:1.000:1.000:1.000	-	-	69729124	GGCCAACCACAAAACGAG	-	69729107	7	5	225	1	0	1	0	1	0	0	0	0	10362	1000	35	0	4537	0	NFAT5	16	69729107	In_Frame_Del	DEL	GGCCAACCACAAAACGAG	TCGA-WK-A8XX-01A-11D-A37C-09	38934798	69729107	20625646	78	18191											
WDR59	79726	genome.wustl.edu	37	chr16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-													tggtggcaaggcagttagcaTtttttttattccatttgacc							TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:74976691delT	ENST00000262144.6	-	7	609	c.479delA	c.(478-480)aatfs	p.N160fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGTTAGCATTTTTTTTATT	0.502																																																	0								ENSG00000103091						84	76	79					16																	74976691		2198	4300	6498	WDR59	SO:0001589	frameshift_variant	0				HGNC	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.479delA	16.37:g.74976691delT	ENSP00000262144:p.Asn160fs	Somatic	0	25	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Del	DEL							pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N160fs	ENST00000262144.6	37	c.479	CCDS32488.1	16																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	protein_coding	OTTHUMT00000410601.3	T	NM_030581			74976691	-1	no_errors	ENST00000262144	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	74976691	T	-	74976691	7	5	225	1	0	1	0	1	0	0	0	0	17315	1493	52	0	2525	0	WDR59	16	74976691	Frame_Shift_Del	DEL	T	TCGA-WK-A8XX-01A-11D-A37C-09	5247584	74976691	15378062	79	18192											
PLCG2	5336	genome.wustl.edu	37	chr16	81914547	81914547	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaaggattcgtccgtGttcatcctggggtgaggcag	13	8	2	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:81914547G>T	ENST00000359376.3	+	8	895	c.681G>T	c.(679-681)gtG>gtT	p.V227V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	227					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATTCGTCCGTGTTCATCCTGG	0.517																																																	0								ENSG00000197943						122	123	123					16																	81914547		1976	4150	6126	PLCG2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.681G>T	16.37:g.81914547G>T		Somatic	0	45	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.V227	ENST00000359376.3	37	c.681	CCDS42204.1	16																																																																																			-	pirsf_PLC-gamma		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	protein_coding	OTTHUMT00000432429.1	G		-		81914547	1	no_errors	ENST00000359376	ensembl	human	known	74_37	silent	SNP	1.000	T	T	81914547	G	T	81914547	2	4	225	1	0	0	0	0	0	0	0	1	12038	1364	48	3		3	PLCG2	16	81914547	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	6937856	81914547	8440206	80	18193											
WDR81	124997	genome.wustl.edu	37	chr17	1631292	1631292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcctgcaggtgctggcGggcgcagaggcctcccagga	16	13	0	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:1631292G>A	ENST00000409644.1	+	1	3039	c.3039G>A	c.(3037-3039)gcG>gcA	p.A1013A	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1013					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGTGCTGGCGGGCGCAGAGG	0.672																																																	0								ENSG00000167716						8	10	10					17																	1631292		688	1581	2269	WDR81	SO:0001819	synonymous_variant	0			-	HGNC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3039G>A	17.37:g.1631292G>A		Somatic	0	25	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1013	ENST00000409644.1	37	c.3039	CCDS54062.1	17																																																																																			-	NULL		0.672	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	G	NM_152348	-		1631292	1	no_errors	ENST00000409644	ensembl	human	known	74_37	silent	SNP	0.912	A	A	1631292	G	A	1631292	2	1	225	1	0	0	0	0	0	0	0	1	17337	1103	39	1		1	WDR81	17	1631292	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09		1631292	79563918	81	18194											
TP53	7157	genome.wustl.edu	37	chr17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctcctgacctggagTcttccagtgtgatgatggtg	14	8	1	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:7577505T>A	ENST00000269305.4	-	7	965	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(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)	TGACCTGGAGTCTTCCAGTGT	0.587		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	41	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	lung(8)|upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|liver(2)|skin(2)|pancreas(1)|breast(1)						ENSG00000141510						134	95	108					17																	7577505		2203	4300	6503	TP53	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;	-	HGNC	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.776A>T	17.37:g.7577505T>A	ENSP00000269305:p.Asp259Val	Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	9	70.97	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D259V	ENST00000269305.4	37	c.776	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636906	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99557	0.9841	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.52842	0.482;0.483;0.537;0.815;0.956	P;B;P;P;P	0.57244	0.692;0.401;0.63;0.795;0.816	D	0.98404	1.0569	10	0.62326	D	0.03	-22.926	7.6416	0.28296	0.1888:0.0:0.0:0.8112	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	V	259;259;259;259;259;259;248;127	ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V	ENSP00000269305:D259V	D	-	2	0	TP53	7518230	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.616000	0.46376	2.036000	0.60181	0.379000	0.24179	GAC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7577505	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7577505	T	A	7577505	3	1	225	1	0	0	0	0	1	0	0	0	16388	1667	58	5	514	5	TP53	17	7577505	Missense_Mutation	SNP	T	TCGA-WK-A8XX-01A-11D-A37C-09	5946213	7577505	73617705	82	18195											
MYH2	4620	genome.wustl.edu	37	chr17	10436721	10436721	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctaggagccccagaagAccagctttgaaaaagacctg	9	12	1	4	rs371676280		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:10436721A>G	ENST00000245503.5	-	21	2706	c.2322T>C	c.(2320-2322)ggT>ggC	p.G774G	MYH2_ENST00000397183.2_Silent_p.G774G|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	774	Actin-binding. {ECO:0000250}.|Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCCCAGAAGACCAGCTTTGA	0.478																																																	0								ENSG00000125414						78	79	79					17																	10436721		2203	4300	6503	MYH2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2322T>C	17.37:g.10436721A>G		Somatic	0	41	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G774	ENST00000245503.5	37	c.2322	CCDS11156.1	17																																																																																			-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	A	NM_017534	-		10436721	-1	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	SNP	1.000	G	G	10436721	A	G	10436721	2	3	225	1	0	0	0	0	0	0	0	1	10037	262	10	5		5	MYH2	17	10436721	Silent	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	2859216	10436721	70758489	83	18196											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40840498	40840498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtaccgactgaatgacgGcttttggcacgaggtgaatt	14	7	0	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:40840498G>A	ENST00000264638.4	+	9	1542	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	442	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGAATGACGGCTTTTGGCAC	0.522																																																	0								ENSG00000108797						133	116	122					17																	40840498		2203	4300	6503	CNTNAP1	SO:0001583	missense	0			-	HGNC	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1325G>A	17.37:g.40840498G>A	ENSP00000264638:p.Gly442Asp	Somatic	0	33	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G442D	ENST00000264638.4	37	c.1325	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669702	0.88348	.	.	ENSG00000108797	ENST00000264638	D	0.83992	-1.79	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.073620	0.56097	D	0.000029	D	0.92192	0.7524	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91843	0.5485	10	0.54805	T	0.06	.	20.1152	0.97926	0.0:0.0:1.0:0.0	.	442	P78357	CNTP1_HUMAN	D	442	ENSP00000264638:G442D	ENSP00000264638:G442D	G	+	2	0	CNTNAP1	38094024	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.208000	0.95075	2.750000	0.94351	0.655000	0.94253	GGC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.522	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	protein_coding	OTTHUMT00000452342.1	G	NM_003632	-		40840498	1	no_errors	ENST00000264638	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40840498	G	A	40840498	3	1	225	1	0	0	0	0	1	0	0	0	3648	1203	42	2	1359	2	CNTNAP1	17	40840498	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	30403777	40840498	40354712	84	18197											
TACO1	51204	genome.wustl.edu	37	chr17	61681893	61681893	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctttttctttaaatctcaGaaggaggccccaaccctgag	7	11	3	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:61681893G>T	ENST00000258975.6	+	2	492		c.e2-1			NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I						regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						TTAAATCTCAGAAGGAGGCCC	0.453																																																	0								ENSG00000136463						117	112	113					17																	61681893		2203	4300	6503	TACO1	SO:0001630	splice_region_variant	0			-	HGNC	BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"coiled-coil domain containing 44"	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.281-1G>T	17.37:g.61681893G>T		Somatic	0	17	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B2RD21|Q8N3N6|Q9UI60	Splice_Site	SNP							-	e2-1	ENST00000258975.6	37	c.281-1	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664002	0.67700	.	.	ENSG00000136463	ENST00000258975	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0322	0.86464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TACO1	59035625	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.882000	0.87258	2.626000	0.88956	0.603000	0.83216	.	-	-		0.453	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	protein_coding	OTTHUMT00000443862.1	G	NM_016360	-	Intron	61681893	1	no_errors	ENST00000258975	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	61681893	G	T	61681893	5	4	225	1	0	0	0	0	0	0	1	0	15511	956	33	3	286	3	TACO1	17	61681893	Splice_Site	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	20841395	61681893	19513317	85	18198											
ABCA6	23460	genome.wustl.edu	37	chr17	67094140	67094140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataagaaaaaggaaccatccGgcaacccagtccagagtcct	8	12	0	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:67094140G>T	ENST00000284425.2	-	23	3215	c.3041C>A	c.(3040-3042)cCg>cAg	p.P1014Q	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1014					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGAACCATCCGGCAACCCAGT	0.358																																																	0								ENSG00000154262						43	43	43					17																	67094140		2203	4300	6503	ABCA6	SO:0001583	missense	0			-	HGNC	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3041C>A	17.37:g.67094140G>T	ENSP00000284425:p.Pro1014Gln	Somatic	0	32	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1014Q	ENST00000284425.2	37	c.3041	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	6.851	0.526380	0.13066	.	.	ENSG00000154262	ENST00000284425	D	0.86432	-2.12	4.71	-0.536	0.11876	.	0.853808	0.10049	N	0.722478	T	0.78033	0.4220	L	0.38838	1.175	0.09310	N	1	B	0.18310	0.027	B	0.27262	0.078	T	0.62364	-0.6870	10	0.30078	T	0.28	.	3.2518	0.06818	0.3876:0.0:0.4295:0.1829	.	1014	Q8N139	ABCA6_HUMAN	Q	1014	ENSP00000284425:P1014Q	ENSP00000284425:P1014Q	P	-	2	0	ABCA6	64605735	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.504000	0.22626	0.072000	0.16694	0.557000	0.71058	CCG	-	NULL		0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	protein_coding	OTTHUMT00000450463.1	G	NM_080284	-		67094140	-1	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	SNP	0.000	T	T	67094140	G	T	67094140	3	4	225	1	0	0	0	0	1	0	0	0	36	1116	39	3	1880	3	ABCA6	17	67094140	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	5412247	67094140	14101070	86	18199											
NFATC1	4772	genome.wustl.edu	37	chr18	77170842	77170842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcagaggcctcctcctaCgagtccaactactcgtaccc	6	17	1	1	rs140225213	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr18:77170842C>T	ENST00000427363.2	+	2	567	c.567C>T	c.(565-567)taC>taT	p.Y189Y	NFATC1_ENST00000329101.4_Silent_p.Y176Y|NFATC1_ENST00000318065.5_Silent_p.Y176Y|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.Y189Y|NFATC1_ENST00000586434.1_Silent_p.Y176Y|NFATC1_ENST00000592223.1_Silent_p.Y176Y|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.Y189Y|NFATC1_ENST00000542384.1_Silent_p.Y189Y|NFATC1_ENST00000591814.1_Silent_p.Y189Y			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	189	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCTCCTCCTACGAGTCCAACT	0.672													C|||	2	0.000399361	0.0015	0	5008	,	,		15602	0		0	False		,,,				2504	0				GBM(151;1210 2593 28719 45011)												0								ENSG00000131196	C	,,,,	14,4392	21.2+/-45.6	0,14,2189	60	64	63		567,528,,528,567	-4.3	0.9	18	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	,,,,	189/826,176/931,,176/813,189/717	77170842	14,12992	2203	4300	6503	NFATC1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.567C>T	18.37:g.77170842C>T		Somatic	0	30	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP							pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Y189	ENST00000427363.2	37	c.567		18																																																																																			-	NULL		0.672	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	protein_coding	OTTHUMT00000450507.1	C	NM_172390	rs140225213		77170842	1	no_errors	ENST00000427363	ensembl	human	known	74_37	silent	SNP	0.595	T	T	77170842	C	T	77170842	2	4	225	1	0	0	0	0	0	0	0	1	10363	547	19	1		1	NFATC1	18	77170842	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		77170842	906406	87	18200											
AP3D1	8943	genome.wustl.edu	37	chr19	2115549	2115549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacttgcctggaaccttcaAggggacggagaggtcaatct	12	10	3	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:2115549A>T	ENST00000345016.5	-	19	2368	c.2137T>A	c.(2137-2139)Ttg>Atg	p.L713M	AP3D1_ENST00000356926.4_Missense_Mutation_p.L622M|AP3D1_ENST00000350812.6_Missense_Mutation_p.L544M|AP3D1_ENST00000355272.6_Missense_Mutation_p.L713M	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	713					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GGAACCTTCAAGGGGACGGAG	0.662																																																	0								ENSG00000065000						65	78	74					19																	2115549		2093	4211	6304	AP3D1	SO:0001583	missense	0			-	HGNC	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2137T>A	19.37:g.2115549A>T	ENSP00000344055:p.Leu713Met	Somatic	0	32	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP							pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.L713M	ENST00000345016.5	37	c.2137	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974435	0.34848	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.63744	1.64;-0.06;1.42;-0.06	4.67	-3.25	0.05079	.	0.000000	0.64402	D	0.000001	T	0.77418	0.4127	M	0.89287	3.02	0.42068	D	0.991192	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78099	-0.2336	10	0.72032	D	0.01	-19.4064	11.2528	0.49037	0.7467:0.0:0.2533:0.0	.	713;713;622	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	M	622;713;713;713;544	ENSP00000349398:L622M;ENSP00000344055:L713M;ENSP00000347416:L713M;ENSP00000342321:L544M	ENSP00000341579:L713M	L	-	1	2	AP3D1	2066549	0.056000	0.20664	0.002000	0.10522	0.064000	0.16182	0.394000	0.20834	-0.640000	0.05495	-0.464000	0.05259	TTG	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	protein_coding	OTTHUMT00000450912.1	A		-		2115549	-1	no_errors	ENST00000355272	ensembl	human	known	74_37	missense	SNP	0.254	T	T	2115549	A	T	2115549	3	4	225	1	0	0	0	0	1	0	0	0	746	69	3	5	1530	5	AP3D1	19	2115549	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09		2115549	57013434	88	18201											
ELAVL3	1995	genome.wustl.edu	37	chr19	11569017	11569017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctcagctgcgcccagcGgcttctgcccattcagtcct	11	16	3	0	rs148057857		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:11569017G>A	ENST00000359227.3	-	5	996	c.572C>T	c.(571-573)cCg>cTg	p.P191L	ELAVL3_ENST00000438662.2_Missense_Mutation_p.P191L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	191	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCGCCCAGCGGCTTCTGCCC	0.612																																																	0								ENSG00000196361	G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	80	70	73		572,572	3.9	0.8	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ELAVL3	NM_001420.3,NM_032281.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	191/368,191/361	11569017	1,13005	2203	4300	6503	ELAVL3	SO:0001583	missense	0			-	HGNC		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.572C>T	19.37:g.11569017G>A	ENSP00000352162:p.Pro191Leu	Somatic	0	35	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.P191L	ENST00000359227.3	37	c.572	CCDS32912.1	19	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421508	0.83559	0.0	1.16E-4	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.07444	3.75;3.19	4.96	3.92	0.45320	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.053537	0.85682	N	0.000000	T	0.01558	0.0050	N	0.00079	-2.23	0.80722	D	1	D;D	0.57571	0.98;0.976	B;B	0.35312	0.19;0.2	T	0.59690	-0.7407	10	0.56958	D	0.05	.	12.3811	0.55307	0.0845:0.0:0.9155:0.0	.	191;191	Q14576;Q14576-2	ELAV3_HUMAN;.	L	191	ENSP00000352162:P191L;ENSP00000390878:P191L	ENSP00000352162:P191L	P	-	2	0	ELAVL3	11430017	1.000000	0.71417	0.788000	0.31933	0.810000	0.45777	9.404000	0.97306	1.091000	0.41335	0.491000	0.48974	CCG	-	smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF		0.612	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	protein_coding	OTTHUMT00000458827.2	G	NM_001420	rs148057857		11569017	-1	no_errors	ENST00000359227	ensembl	human	known	74_37	missense	SNP	0.998	A	A	11569017	G	A	11569017	3	1	225	1	0	0	0	0	1	0	0	0	5053	1116	39	1	543	1	ELAVL3	19	11569017	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	9453468	11569017	47559966	89	18202											
OR10H1	26539	genome.wustl.edu	37	chr19	15918238	15918238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcagggccgtgatacAcaccaagcccacgcctttgg	11	16	0	1	rs144349437	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:15918238A>C	ENST00000334920.2	-	1	698	c.610T>G	c.(610-612)Tgt>Ggt	p.C204G		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCCGTGATACACACCAAGCCC	0.552																																																	0								ENSG00000186723						161	125	137					19																	15918238		2203	4300	6503	OR10H1	SO:0001583	missense	0			-	HGNC	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.610T>G	19.37:g.15918238A>C	ENSP00000335596:p.Cys204Gly	Somatic	0	55	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	70	10.26	Q6IFQ2|Q96R59	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C204G	ENST00000334920.2	37	c.610	CCDS12335.1	19	66	0.03021978021978022	14	0.028455284552845527	11	0.03038674033149171	11	0.019230769230769232	30	0.0395778364116095	.	7.008	0.556262	0.13436	.	.	ENSG00000186723	ENST00000334920	T	0.35789	1.29	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000044	T	0.08223	0.0205	N	0.02685	-0.53	0.38812	D	0.955438	D	0.71674	0.998	D	0.74674	0.984	T	0.14755	-1.0461	10	0.19147	T	0.46	.	10.5755	0.45225	1.0:0.0:0.0:0.0	.	204	Q9Y4A9	O10H1_HUMAN	G	204	ENSP00000335596:C204G	ENSP00000335596:C204G	C	-	1	0	OR10H1	15779238	0.003000	0.15002	0.959000	0.39883	0.114000	0.19823	0.767000	0.26575	1.760000	0.52011	0.523000	0.50628	TGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	protein_coding	OTTHUMT00000460364.1	A		rs144349437		15918238	-1	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	SNP	0.995	C	C	15918238	A	C	15918238	3	2	225	1	0	0	0	0	1	0	0	0	10907	159	6	5	350	5	OR10H1	19	15918238	Missense_Mutation	SNP	A	TCGA-WK-A8XX-01A-11D-A37C-09	4349221	15918238	43210745	90	18203											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769390	31769390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccttctcatccagcaGggttgtgatggtaggtgtga	14	8	1	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:31769390G>A	ENST00000240587.4	-	2	1636	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	437					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)					TCATCCAGCAGGGTTGTGATG	0.557																																																	0								ENSG00000121297						112	108	109					19																	31769390		2203	4300	6503	TSHZ3	SO:0001819	synonymous_variant	0			-	HGNC	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.1309C>T	19.37:g.31769390G>A		Somatic	0	40	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	Q9H0G6|Q9P254	Silent	SNP							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L437	ENST00000240587.4	37	c.1309	CCDS12421.2	19																																																																																			-	NULL		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	G	NM_020856	-		31769390	-1	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	SNP	0.954	A	A	31769390	G	A	31769390	2	1	225	1	0	0	0	0	0	0	0	1	16632	991	35	2		2	TSHZ3	19	31769390	Silent	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	15851152	31769390	27359593	91	18204											
LGI4	163175	genome.wustl.edu	37	chr19	35617801	35617801	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgcaggctgtagtccCaggagagaatcaggcagcgg	16	10	1	1			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:35617801C>T	ENST00000310123.3	-	7	1268	c.749G>A	c.(748-750)tGg>tAg	p.W250*	LGI4_ENST00000392225.3_Nonsense_Mutation_p.W250*|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	250					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCTGTAGTCCCAGGAGAGAAT	0.677																																																	0								ENSG00000153902						30	35	33					19																	35617801		2203	4300	6503	LGI4	SO:0001587	stop_gained	0			-	HGNC	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.749G>A	19.37:g.35617801C>T	ENSP00000312273:p.Trp250*	Somatic	0	31	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	B2RN53|B9EGS7|Q5M8T1	Nonsense_Mutation	SNP							pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.W250*	ENST00000310123.3	37	c.749	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.767715	0.97825	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	.	.	.	3.94	3.94	0.45596	.	0.238888	0.29791	N	0.011191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5039	0.61474	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000312273:W250X	W	-	2	0	LGI4	40309641	1.000000	0.71417	0.996000	0.52242	0.147000	0.21601	5.637000	0.67854	2.025000	0.59659	0.313000	0.20887	TGG	-	pfam_EPTP,pfscan_EAR		0.677	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	protein_coding	OTTHUMT00000103963.1	C		-		35617801	-1	no_errors	ENST00000310123	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	35617801	C	T	35617801	4	4	225	1	0	0	0	0	0	1	0	0	8756	595	21	2	876	2	LGI4	19	35617801	Nonsense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	3848411	35617801	23511182	92	18205											
CLPTM1	1209	genome.wustl.edu	37	chr19	45477820	45477820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagaactcagacggctGctacgagcactttgctgagc	13	12	1	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:45477820G>T	ENST00000337392.5	+	4	584	c.434G>T	c.(433-435)tGc>tTc	p.C145F	CLPTM1_ENST00000546079.1_Missense_Mutation_p.C43F|CLPTM1_ENST00000541297.2_Missense_Mutation_p.C131F	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAGACGGCTGCTACGAGCAC	0.572																																																	0								ENSG00000104853						108	89	96					19																	45477820		2203	4300	6503	CLPTM1	SO:0001583	missense	0			-	HGNC	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.434G>T	19.37:g.45477820G>T	ENSP00000336994:p.Cys145Phe	Somatic	0	19	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP							pfam_CLPTM1	p.C145F	ENST00000337392.5	37	c.434	CCDS12651.1	19	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893126	0.52121	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.44542	1.39	0.80722	D	1	P;P;P	0.42993	0.797;0.67;0.67	P;P;P	0.50659	0.514;0.647;0.647	T	0.63037	-0.6726	9	0.54805	T	0.06	-54.0135	16.5186	0.84307	0.0:0.0:1.0:0.0	.	131;145;145	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	F	43;131;145;145	.	ENSP00000336994:C145F	C	+	2	0	CLPTM1	50169660	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.844000	0.92147	2.755000	0.94549	0.650000	0.86243	TGC	-	pfam_CLPTM1		0.572	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	G	NM_001294	-		45477820	1	no_errors	ENST00000337392	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45477820	G	T	45477820	3	4	225	1	0	0	0	0	1	0	0	0	3556	1319	46	3	448	3	CLPTM1	19	45477820	Missense_Mutation	SNP	G	TCGA-WK-A8XX-01A-11D-A37C-09	9860019	45477820	13651163	93	18206											
MED15	51586	genome.wustl.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-													tgcagcagcagcagcagctcCagcagcagcagcagcagcag					rs374794651		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000099917																																			MED15	SO:0001651	inframe_deletion	0				HGNC	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del	Somatic	0	29	0	744	0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL							pfam_Mediator_Med15_met	p.Q214in_frame_del	ENST00000263205.7	37	c.631_633	CCDS33602.1	22																																																																																			-	pfam_Mediator_Med15_met		0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	protein_coding	OTTHUMT00000320177.2	CAG	NM_015889			20918918	1	no_errors	ENST00000263205	ensembl	human	known	74_37	in_frame_del	DEL	0.552:0.544:0.569	-	-	20918918	CAG	-	20918916	7	5	225	1	0	1	0	1	0	0	0	0	9435	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-WK-A8XX-01A-11D-A37C-09		20918916	30385650	94	18207											
IL2RB	3560	genome.wustl.edu	37	chr22	37524543	37524543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggaaggtgcagtaggCgtcgtcctcccctgacagag	17	10	0	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr22:37524543C>T	ENST00000216223.5	-	10	1447	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	417					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTGCAGTAGGCGTCGTCCTCC	0.677																																																	0								ENSG00000100385						28	29	28					22																	37524543		2203	4300	6503	IL2RB	SO:0001583	missense	0			-	HGNC	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1249G>A	22.37:g.37524543C>T	ENSP00000216223:p.Ala417Thr	Somatic	0	29	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	B2R765	Missense_Mutation	SNP							superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A417T	ENST00000216223.5	37	c.1249	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	c	10.54	1.380029	0.24944	.	.	ENSG00000100385	ENST00000216223	T	0.08984	3.03	4.83	2.42	0.29668	.	0.431311	0.18721	N	0.133014	T	0.10208	0.0250	L	0.57536	1.79	0.09310	N	1	D	0.62365	0.991	P	0.47134	0.539	T	0.17868	-1.0355	10	0.16896	T	0.51	-12.971	7.5487	0.27783	0.2061:0.7034:0.0:0.0905	.	417	P14784	IL2RB_HUMAN	T	417	ENSP00000216223:A417T	ENSP00000216223:A417T	A	-	1	0	IL2RB	35854489	0.064000	0.20934	0.379000	0.26080	0.125000	0.20455	0.301000	0.19174	1.149000	0.42402	-0.119000	0.15052	GCC	-	NULL		0.677	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	protein_coding	OTTHUMT00000318792.1	C		-		37524543	-1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	SNP	0.086	T	T	37524543	C	T	37524543	3	4	225	1	0	0	0	0	1	0	0	0	7689	768	27	1	410	1	IL2RB	22	37524543	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	16605627	37524543	13780023	95	18208											
PARVB	29780	genome.wustl.edu	37	chr22	44543775	44543775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacgctgttcgaccacgcCccggataagctcagcgtggt	12	14	1	0			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr22:44543775C>T	ENST00000338758.7	+	9	810	c.747C>T	c.(745-747)gcC>gcT	p.A249A	PARVB_ENST00000404989.1_Silent_p.A212A|PARVB_ENST00000406477.3_Silent_p.A282A	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	249					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCGACCACGCCCCGGATAAGC	0.577																																																	0								ENSG00000188677						88	71	77					22																	44543775		2203	4300	6503	PARVB	SO:0001819	synonymous_variant	0			-	HGNC	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.747C>T	22.37:g.44543775C>T		Somatic	0	22	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP							pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A282	ENST00000338758.7	37	c.846	CCDS14056.1	22																																																																																			-	superfamily_CH-domain		0.577	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319518.2	C	NM_001003828	-		44543775	1	no_errors	ENST00000406477	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44543775	C	T	44543775	2	4	225	1	0	0	0	0	0	0	0	1	11471	610	22	2		2	PARVB	22	44543775	Silent	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09	7019232	44543775	6760791	96	18209											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996552	140996552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccataattgacaccaCagatgattcgactgccacag	8	13	0	3			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chrX:140996552C>T	ENST00000285879.4	+	4	3648	c.3362C>T	c.(3361-3363)aCa>aTa	p.T1121I	MAGEC1_ENST00000406005.2_Missense_Mutation_p.T188I	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1121										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGACACCACAGATGATTCG	0.473										HNSCC(15;0.026)																																							0								ENSG00000155495						97	83	87					X																	140996552		2203	4300	6503	MAGEC1	SO:0001583	missense	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3362C>T	X.37:g.140996552C>T	ENSP00000285879:p.Thr1121Ile	Somatic	0	22	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.T1121I	ENST00000285879.4	37	c.3362	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	2.075	-0.412091	0.04799	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04970	4.45;3.52	1.06	-0.116	0.13555	.	.	.	.	.	T	0.13713	0.0332	M	0.62723	1.935	0.09310	N	1	D	0.58970	0.984	P	0.59595	0.86	T	0.14172	-1.0482	9	0.72032	D	0.01	.	3.7477	0.08554	0.4272:0.5728:0.0:0.0	.	1121	O60732	MAGC1_HUMAN	I	1121;188	ENSP00000285879:T1121I;ENSP00000385500:T188I	ENSP00000285879:T1121I	T	+	2	0	MAGEC1	140824218	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.188000	0.17018	-0.085000	0.12573	0.279000	0.19357	ACA	-	NULL		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140996552	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.002	T	T	140996552	C	T	140996552	3	4	225	1	0	0	0	0	1	0	0	0	9182	478	17	2	3368	2	MAGEC1	23	140996552	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		140996552	14274008	97	18210											
KDM5D	8284	genome.wustl.edu	37	chrY	21877620	21877620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcatccaaggtgtacCgatacctagaggaagaaagc	12	9	1	2			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chrY:21877620C>T	ENST00000317961.4	-	17	2490	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	KDM5D_ENST00000541639.1_Missense_Mutation_p.R771Q|KDM5D_ENST00000382806.2_Missense_Mutation_p.R683Q	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	740					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CAAGGTGTACCGATACCTAGA	0.547																																																	0								ENSG00000012817																																			KDM5D	SO:0001583	missense	0			-	HGNC	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.2219G>A	Y.37:g.21877620C>T	ENSP00000322408:p.Arg740Gln	Somatic	0	12	0		0.614219372094969				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R771Q	ENST00000317961.4	37	c.2312	CCDS14794.1	Y																																																																																			-	pfam_Znf_C5HC2		0.547	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5D	protein_coding	OTTHUMT00000088790.1	C	NM_004653	-		21877620	-1	no_errors	ENST00000541639	ensembl	human	known	74_37	missense	SNP	1.000	T	T	21877620	C	T	21877620	3	4	225	1	0	0	0	0	1	0	0	0	8138	652	23	1	2444	1	KDM5D	24	21877620	Missense_Mutation	SNP	C	TCGA-WK-A8XX-01A-11D-A37C-09		21877620	37495946	98	18211											
SYTL1	84958	genome.wustl.edu	37	chr1	27679961	27679961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgccagctggggggcacaCgcctcagcctgggcaccggt	15	16	1	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr1:27679961C>A	ENST00000543823.1	+	13	1993	c.1531C>A	c.(1531-1533)Cgc>Agc	p.R511S	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.R499S			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	511	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGGCACACGCCTCAGCCT	0.682																																																	0								ENSG00000142765						21	22	22					1																	27679961		2202	4298	6500	SYTL1	SO:0001583	missense	0			-	HGNC	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1531C>A	1.37:g.27679961C>A	ENSP00000440704:p.Arg511Ser	Somatic	0	23	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.R511S	ENST00000543823.1	37	c.1531	CCDS53286.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411261	0.83340	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.72394	-0.65;-0.65	5.46	4.49	0.54785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.89840	3.065	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.88651	0.3182	10	0.87932	D	0	-25.635	13.9324	0.64003	0.1529:0.8471:0.0:0.0	.	511;511;499	A8KAH3;Q8IYJ3;Q8IYJ3-2	.;SYTL1_HUMAN;.	S	499;511	ENSP00000316464:R499S;ENSP00000440704:R511S	ENSP00000316464:R499S	R	+	1	0	SYTL1	27552548	0.906000	0.30813	1.000000	0.80357	0.984000	0.73092	1.864000	0.39469	2.559000	0.86315	0.561000	0.74099	CGC	-	superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.682	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	protein_coding		C	NM_032872	-		27679961	1	no_errors	ENST00000543823	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27679961	C	A	27679961	3	1	226	1	0	0	0	0	1	0	0	0	15489	536	19	3	1545	3	SYTL1	1	27679961	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		27679961	221570660	1	18212											
ADCY10	55811	genome.wustl.edu	37	chr1	167787437	167787437	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagtaagtgtcatggttcttCttggcaaaagatttttagct	9	5	3	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr1:167787437C>G	ENST00000367851.4	-	31	4539	c.4355G>C	c.(4354-4356)aGa>aCa	p.R1452T	ADCY10_ENST00000545172.1_Missense_Mutation_p.R1299T|ADCY10_ENST00000367848.1_Missense_Mutation_p.R1360T|RP1-313L4.3_ENST00000451545.1_RNA	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1452					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						CATGGTTCTTCTTGGCAAAAG	0.378																																																	0								ENSG00000143199						112	107	109					1																	167787437		2203	4300	6503	ADCY10	SO:0001583	missense	0			-	HGNC	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.4355G>C	1.37:g.167787437C>G	ENSP00000356825:p.Arg1452Thr	Somatic	0	37	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	36	41.94	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP							pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.R1452T	ENST00000367851.4	37	c.4355	CCDS1265.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487702|2.487702	0.44249|0.44249	.|.	.|.	ENSG00000143199|ENSG00000143199	ENST00000271426|ENST00000545172;ENST00000367851;ENST00000367848	.|T;T;T	.|0.31247	.|1.5;1.5;1.5	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|0.000000	.|0.52532	.|D	.|0.000064	T|T	0.40670|0.40670	0.1126|0.1126	M|M	0.67953|0.67953	2.075|2.075	.|0.32586	.|N	.|0.527883	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.994	T|T	0.23797|0.23797	-1.0178|-1.0178	5|9	0.87932|0.38643	D|T	0|0.18	-23.0822|-23.0822	10.9843|10.9843	0.47513|0.47513	0.0:0.9121:0.0:0.0879|0.0:0.9121:0.0:0.0879	.|.	.|1360;1452	.|Q96PN6-2;Q96PN6	.|.;ADCYA_HUMAN	Q|T	370|1299;1452;1360	.|ENSP00000441992:R1299T;ENSP00000356825:R1452T;ENSP00000356822:R1360T	ENSP00000271426:E370Q|ENSP00000356822:R1360T	E|R	-|-	1|2	0|0	ADCY10|ADCY10	166054061|166054061	0.912000|0.912000	0.30974|0.30974	0.898000|0.898000	0.35279|0.35279	0.116000|0.116000	0.19942|0.19942	2.389000|2.389000	0.44407|0.44407	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAA|AGA	-	pirsf_Adenylate_cylcase_typ10		0.378	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	protein_coding	OTTHUMT00000083663.1	C	NM_018417	-		167787437	-1	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	SNP	0.876	G	G	167787437	C	G	167787437	3	3	226	1	0	0	0	0	1	0	0	0	293	913	32	4	489	4	ADCY10	1	167787437	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	140107476	167787437	81463184	2	18213											
SLC19A2	10560	genome.wustl.edu	37	chr1	169446394	169446394	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttaaggctgagcttaccGgttcctccacgggaggctcc	11	12	0	1	rs370511652		TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr1:169446394G>A	ENST00000236137.5	-	2	1042	c.806C>T	c.(805-807)cCg>cTg	p.P269L	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	269					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	TGAGCTTACCGGTTCCTCCAC	0.468																																																	0								ENSG00000117479	G	LEU/PRO	1,4403		0,1,2201	88	94	92		806	1.4	0.4	1		92	0,8600		0,0,4300	no	missense-near-splice	SLC19A2	NM_006996.2	98	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	269/498	169446394	1,13003	2202	4300	6502	SLC19A2	SO:0001630	splice_region_variant	0			-	HGNC	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.807+1C>T	1.37:g.169446394G>A		Somatic	0	35	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.00	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP							pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.P269L	ENST00000236137.5	37	c.806	CCDS1280.1	1	.	.	.	.	.	.	.	.	.	.	G	4.210	0.037838	0.08148	2.27E-4	0.0	ENSG00000117479	ENST00000236137	D	0.85629	-2.01	5.34	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);	0.963608	0.08648	N	0.914405	T	0.52948	0.1766	L	0.31752	0.955	0.27353	N	0.95619	B	0.10296	0.003	B	0.13407	0.009	T	0.11227	-1.0596	9	0.24483	T	0.36	-3.5008	1.531	0.02536	0.1476:0.2079:0.3265:0.318	.	269	O60779	S19A2_HUMAN	L	269	ENSP00000236137:P269L	ENSP00000236137:P269L	P	-	2	0	SLC19A2	167713018	0.962000	0.33011	0.384000	0.26145	0.296000	0.27459	0.343000	0.19944	0.008000	0.14787	-0.758000	0.03466	CCG	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier		0.468	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	protein_coding	OTTHUMT00000086106.1	G	NM_006996	-	Missense_Mutation	169446394	-1	no_errors	ENST00000236137	ensembl	human	known	74_37	missense	SNP	0.543	A	A	169446394	G	A	169446394	5	1	226	1	0	0	0	0	0	0	1	0	14437	1130	39	1	707	1	SLC19A2	1	169446394	Splice_Site	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	1658957	169446394	79804227	3	18214											
RABGAP1L	9910	genome.wustl.edu	37	chr1	174247778	174247778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatacatgactgtggcagTggatatggtagtcacagagg	14	5	1	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr1:174247778T>C	ENST00000251507.4	+	10	1358	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.V42A|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.V358A	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACTGTGGCAGTGGATATGGTA	0.423																																																	0								ENSG00000152061						137	137	137					1																	174247778		2203	4300	6503	RABGAP1L	SO:0001583	missense	0			-	HGNC	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1184T>C	1.37:g.174247778T>C	ENSP00000251507:p.Val395Ala	Somatic	0	44	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	57	9.38	B7ZAA4	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.V395A	ENST00000251507.4	37	c.1184	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108708	0.56291	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.59906	0.25;2.88;0.23	5.2	5.2	0.72013	.	0.062950	0.64402	D	0.000007	T	0.62429	0.2427	M	0.74389	2.26	0.80722	D	1	P;B;B;B;P	0.37612	0.602;0.198;0.208;0.208;0.487	B;B;B;B;B	0.40375	0.268;0.114;0.327;0.327;0.122	T	0.66740	-0.5847	10	0.52906	T	0.07	.	15.0604	0.71947	0.0:0.0:0.0:1.0	.	407;42;395;395;358	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	A	358;42;395;407;407	ENSP00000350027:V358A;ENSP00000251507:V395A;ENSP00000403136:V407A	ENSP00000251507:V395A	V	+	2	0	RABGAP1L	172514401	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.876000	0.69667	1.972000	0.57404	0.254000	0.18369	GTG	-	pfam_Kinesin-like		0.423	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	protein_coding	OTTHUMT00000084497.1	T	NM_001243765	-		174247778	1	no_errors	ENST00000251507	ensembl	human	known	74_37	missense	SNP	1.000	C	C	174247778	T	C	174247778	3	2	226	1	0	0	0	0	1	0	0	0	12973	1696	59	5	1218	5	RABGAP1L	1	174247778	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09	4801384	174247778	75002843	4	18215											
TOR1AIP1	26092	genome.wustl.edu	37	chr1	179887358	179887358	+	Frame_Shift_Del	DEL	G	G	-													acctgaaaatgccctgaaaaGgggcatctgcttataagaag							TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr1:179887358delG	ENST00000606911.2	+	10	1927	c.1736delG	c.(1735-1737)aggfs	p.R579fs	TOR1AIP1_ENST00000528443.2_Frame_Shift_Del_p.R580fs|TOR1AIP1_ENST00000271583.3_Frame_Shift_Del_p.R595fs|TOR1AIP1_ENST00000435319.4_Frame_Shift_Del_p.R458fs			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	579	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GCCCTGAAAAGGGGCATCTGC	0.433																																																	0								ENSG00000143337						38	41	40					1																	179887358		2202	4295	6497	TOR1AIP1	SO:0001589	frameshift_variant	0				HGNC		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1736delG	1.37:g.179887358delG	ENSP00000476687:p.Arg579fs	Somatic	0	9	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	6	71.43	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Frame_Shift_Del	DEL							pfam_Lamina-ass_polypeptide_CLAP1C	p.G581fs	ENST00000606911.2	37	c.1739	CCDS1335.1	1																																																																																			-	pfam_Lamina-ass_polypeptide_CLAP1C		0.433	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	protein_coding	OTTHUMT00000100313.4	G	NM_015602			179887358	1	no_errors	ENST00000528443	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	179887358	G	-	179887358	7	5	226	1	0	1	0	1	0	0	0	0	16379	1000	35	0	1774	0	TOR1AIP1	1	179887358	Frame_Shift_Del	DEL	G	TCGA-WK-A8XY-01A-11D-A37C-09	5639580	179887358	69363263	5	18216											
GYPC	2995	genome.wustl.edu	37	chr2	127447866	127447866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctctgcctccaccacaAtgcatactaccaccattgca	5	17	1	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr2:127447866A>G	ENST00000259254.4	+	2	416	c.85A>G	c.(85-87)Atg>Gtg	p.M29V	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Intron|GYPC_ENST00000356887.7_Missense_Mutation_p.M8V	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	29						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CTCCACCACAATGCATACTAC	0.522																																					Melanoma(110;806 1600 6704 9981 33404)												0								ENSG00000136732						142	109	120					2																	127447866		2203	4300	6503	GYPC	SO:0001583	missense	0			-	HGNC		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"CD molecules", "Blood group antigens"	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.85A>G	2.37:g.127447866A>G	ENSP00000259254:p.Met29Val	Somatic	0	31	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76	B2R522|Q53SV9|Q92642	Missense_Mutation	SNP							smart_Neurexin-like	p.M29V	ENST00000259254.4	37	c.85	CCDS2136.1	2	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.950053	0.00051	.	.	ENSG00000136732	ENST00000259254;ENST00000356887	T;T	0.15603	2.89;2.41	1.1	-2.21	0.06973	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.12156	0.007	T	0.38520	-0.9657	9	0.09084	T	0.74	.	3.1132	0.06365	0.3369:0.256:0.4071:0.0	.	29	P04921	GLPC_HUMAN	V	29;8	ENSP00000259254:M29V;ENSP00000349354:M8V	ENSP00000259254:M29V	M	+	1	0	GYPC	127164336	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.067000	0.14510	-1.327000	0.02264	0.163000	0.16589	ATG	-	NULL		0.522	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYPC	protein_coding	OTTHUMT00000254297.1	A	NM_002101	-		127447866	1	no_errors	ENST00000259254	ensembl	human	known	74_37	missense	SNP	0.000	G	G	127447866	A	G	127447866	3	3	226	1	0	0	0	0	1	0	0	0	6912	101	4	5	91	5	GYPC	2	127447866	Missense_Mutation	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09		127447866	115751507	6	18217											
LRP2	4036	genome.wustl.edu	37	chr2	170042037	170042037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccagtctacagccagaCtttctgcagctggtagtctg	9	12	3	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr2:170042037C>T	ENST00000263816.3	-	50	10106	c.9821G>A	c.(9820-9822)aGt>aAt	p.S3274N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3274					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TACAGCCAGACTTTCTGCAGC	0.348																																																	0								ENSG00000081479						109	101	104					2																	170042037		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9821G>A	2.37:g.170042037C>T	ENSP00000263816:p.Ser3274Asn	Somatic	0	65	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	29	50.85	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S3274N	ENST00000263816.3	37	c.9821	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710362	0.68730	.	.	ENSG00000081479	ENST00000263816	D	0.91792	-2.91	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.222050	0.52532	D	0.000077	D	0.91882	0.7430	L	0.55017	1.72	0.80722	D	1	P	0.40144	0.704	B	0.41666	0.363	D	0.91960	0.5578	10	0.72032	D	0.01	.	20.2936	0.98544	0.0:1.0:0.0:0.0	.	3274	P98164	LRP2_HUMAN	N	3274	ENSP00000263816:S3274N	ENSP00000263816:S3274N	S	-	2	0	LRP2	169750283	1.000000	0.71417	0.997000	0.53966	0.480000	0.33159	7.818000	0.86416	2.801000	0.96364	0.655000	0.94253	AGT	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-		170042037	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170042037	C	T	170042037	3	4	226	1	0	0	0	0	1	0	0	0	8958	565	20	2	4266	2	LRP2	2	170042037	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	42594171	170042037	73157336	7	18218											
TMIE	259236	genome.wustl.edu	37	chr3	46751074	46751076	+	In_Frame_Del	DEL	AAG	AAG	-													ccccctgccccacagaggatAagaagaagaagaagaagaag					rs552239745|rs397817178|rs10578999|rs372639803|rs544504092|rs538183178|rs71619660|rs75020261	byFrequency	TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr3:46751074_46751076delAAG	ENST00000326431.3	+	4	522_524	c.367_369delAAG	c.(367-369)aagdel	p.K131del		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	131	Lys-rich.			Missing (in Ref. 1; AAL89820 and 4; AAI26259/AAI26261). {ECO:0000305}.	inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CACAGAGGATaagaagaagaaga	0.502																																																	0								ENSG00000181585																																			TMIE	SO:0001651	inframe_deletion	0				HGNC	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.367_369delAAG	3.37:g.46751083_46751085delAAG	ENSP00000324775:p.Lys131del	Somatic	0	29	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A0AV93|A8K0R0	In_Frame_Del	DEL							NULL	p.K126in_frame_del	ENST00000326431.3	37	c.367_369	CCDS43081.1	3																																																																																			-	NULL		0.502	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIE	protein_coding	OTTHUMT00000313853.1	AAG	NM_147196			46751076	1	no_errors	ENST00000326431	ensembl	human	known	74_37	in_frame_del	DEL	0.074:0.151:0.294	-	-	46751076	AAG	-	46751074	7	5	226	1	0	1	0	1	0	0	0	0	16236	363	13	0	381	0	TMIE	3	46751074	In_Frame_Del	DEL	AAG	TCGA-WK-A8XY-01A-11D-A37C-09		46751074	151271356	8	18219											
DOCK3	1795	genome.wustl.edu	37	chr3	51273843	51273843	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacagagaagtacggcctgtTggtttttcagtctctggtaa	11	7	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr3:51273843T>A	ENST00000266037.9	+	20	2008	c.1985T>A	c.(1984-1986)tTg>tAg	p.L662*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	662					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TACGGCCTGTTGGTTTTTCAG	0.353																																																	0								ENSG00000088538						216	200	205					3																	51273843		1847	4085	5932	DOCK3	SO:0001587	stop_gained	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1985T>A	3.37:g.51273843T>A	ENSP00000266037:p.Leu662*	Somatic	0	81	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	48	42.17	O15017	Nonsense_Mutation	SNP							pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L662*	ENST00000266037.9	37	c.1985	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	37	6.489362	0.97607	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4559	0.75314	0.0:0.0:0.0:1.0	.	.	.	.	X	662	.	ENSP00000266037:L662X	L	+	2	0	DOCK3	51248883	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.214000	0.72200	2.108000	0.64289	0.533000	0.62120	TTG	-	superfamily_ARM-type_fold		0.353	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	T	NM_004947	-		51273843	1	no_errors	ENST00000266037	ensembl	human	known	74_37	nonsense	SNP	0.993	A	A	51273843	T	A	51273843	4	1	226	1	0	0	0	0	0	1	0	0	4690	1821	63	5	2063	5	DOCK3	3	51273843	Nonsense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09	4522769	51273843	146748587	9	18220											
GAK	2580	genome.wustl.edu	37	chr4	870905	870905	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccggccgcccagagtGgaccgggcgtgatagatgac	16	12	0	4			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr4:870905G>T	ENST00000314167.4	-	17	2057	c.1947C>A	c.(1945-1947)tcC>tcA	p.S649S	GAK_ENST00000511163.1_Silent_p.S570S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	649	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGCCCAGAGTGGACCGGGCGT	0.632																																																	0								ENSG00000178950						43	45	44					4																	870905		2203	4299	6502	GAK	SO:0001819	synonymous_variant	0			-	HGNC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1947C>A	4.37:g.870905G>T		Somatic	0	60	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	37	44.78	Q5U4P5|Q9BVY6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.S649	ENST00000314167.4	37	c.1947	CCDS3340.1	4																																																																																			-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.632	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	protein_coding	OTTHUMT00000239188.1	G	NM_005255	-		870905	-1	no_errors	ENST00000314167	ensembl	human	known	74_37	silent	SNP	0.997	T	T	870905	G	T	870905	2	4	226	1	0	0	0	0	0	0	0	1	6197	1335	47	3		3	GAK	4	870905	Silent	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09		870905	190283371	10	18221											
GAK	2580	genome.wustl.edu	37	chr4	871534	871534	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgaccacggccctcaccagGatgggcttgctgtggggtgt	15	11	1	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr4:871534G>T	ENST00000314167.4	-	16	1835	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	GAK_ENST00000511163.1_Silent_p.I496I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	575	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTCACCAGGATGGGCTTGC	0.652																																																	0								ENSG00000178950						66	59	62					4																	871534		2203	4300	6503	GAK	SO:0001819	synonymous_variant	0			-	HGNC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1725C>A	4.37:g.871534G>T		Somatic	0	41	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	35	41.67	Q5U4P5|Q9BVY6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.I575	ENST00000314167.4	37	c.1725	CCDS3340.1	4																																																																																			-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	protein_coding	OTTHUMT00000239188.1	G	NM_005255	-		871534	-1	no_errors	ENST00000314167	ensembl	human	known	74_37	silent	SNP	0.988	T	T	871534	G	T	871534	2	4	226	1	0	0	0	0	0	0	0	1	6197	1164	41	3		3	GAK	4	871534	Silent	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	629	871534	190282742	11	18222											
SH3TC1	54436	genome.wustl.edu	37	chr4	8229906	8229906	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgccatcgtggaccacctgGtggccctggcctggctgcac	14	15	0	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr4:8229906G>C	ENST00000245105.3	+	12	2552	c.2485G>C	c.(2485-2487)Gtg>Ctg	p.V829L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.V753L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	829										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGACCACCTGGTGGCCCTGGC	0.662																																					NSCLC(145;2298 2623 35616 37297)												0								ENSG00000125089						40	36	38					4																	8229906		2203	4299	6502	SH3TC1	SO:0001583	missense	0			-	HGNC	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2485G>C	4.37:g.8229906G>C	ENSP00000245105:p.Val829Leu	Somatic	0	27	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	Q4W5G5	Missense_Mutation	SNP							superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.V829L	ENST00000245105.3	37	c.2485	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.894248	0.00522	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.71579	-0.58;-0.58	4.32	1.53	0.23141	Tetratricopeptide-like helical (1);	0.377447	0.26979	N	0.021535	T	0.46833	0.1413	L	0.29908	0.895	0.22468	N	0.999074	B	0.13145	0.007	B	0.15052	0.012	T	0.18587	-1.0332	10	0.07325	T	0.83	-24.017	2.9812	0.05954	0.1553:0.1402:0.5598:0.1448	.	829	Q8TE82	S3TC1_HUMAN	L	567;829;753;658	ENSP00000245105:V829L;ENSP00000441045:V753L	ENSP00000245105:V829L	V	+	1	0	SH3TC1	8280806	0.999000	0.42202	0.758000	0.31321	0.008000	0.06430	0.850000	0.27737	0.276000	0.22118	-0.361000	0.07541	GTG	-	NULL		0.662	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	G	NM_018986	-		8229906	1	no_errors	ENST00000245105	ensembl	human	known	74_37	missense	SNP	0.598	C	C	8229906	G	C	8229906	3	2	226	1	0	0	0	0	1	0	0	0	14269	1261	44	4	2527	4	SH3TC1	4	8229906	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	7358372	8229906	182924370	12	18223											
GPR125	166647	genome.wustl.edu	37	chr4	22517302	22517304	+	In_Frame_Del	DEL	CGC	CGC	-													gccggcgggcagcgccgcggCgccgccgccgccgccgcctc							TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	CGC	CGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr4:22517302_22517304delCGC	ENST00000334304.5	-	1	373_375	c.104_106delGCG	c.(103-108)ggcgcc>gcc	p.G35del	GPR125_ENST00000502482.1_In_Frame_Del_p.G35del	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	35					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)				agcgccgcggcgccgccgccgcc	0.808																																																	0								ENSG00000152990																																			GPR125	SO:0001651	inframe_deletion	0				HGNC	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.104_106delGCG	4.37:g.22517311_22517313delCGC	ENSP00000334952:p.Gly35del	Somatic	0	46	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q6UXK9|Q86SQ5|Q8TC55	In_Frame_Del	DEL							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G35in_frame_del	ENST00000334304.5	37	c.106_104	CCDS33964.1	4																																																																																			-	NULL		0.808	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	CGC				22517304	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	in_frame_del	DEL	0.040:0.037:0.033	-	-	22517304	CGC	-	22517302	7	5	226	1	0	1	0	1	0	0	0	0	6641	768	27	0	3935	0	GPR125	4	22517302	In_Frame_Del	DEL	CGC	TCGA-WK-A8XY-01A-11D-A37C-09	14287396	22517302	168636974	13	18224											
CENPE	1062	genome.wustl.edu	37	chr4	104062023	104062023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttggtctctctccagtttgAgtgtctcctctactcttctt	7	12	6	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr4:104062023A>T	ENST00000265148.3	-	36	5791	c.5702T>A	c.(5701-5703)cTc>cAc	p.L1901H	CENPE_ENST00000380026.3_Missense_Mutation_p.L1876H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1901					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCCAGTTTGAGTGTCTCCTC	0.363																																																	0								ENSG00000138778						146	130	135					4																	104062023		2203	4300	6503	CENPE	SO:0001583	missense	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5702T>A	4.37:g.104062023A>T	ENSP00000265148:p.Leu1901His	Somatic	0	36	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1901H	ENST00000265148.3	37	c.5702	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	A	14.34	2.507418	0.44558	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71461	-0.57;-0.57	4.96	4.96	0.65561	.	.	.	.	.	D	0.82440	0.5037	M	0.73962	2.25	0.37047	D	0.897432	D;D	0.89917	0.975;1.0	P;D	0.72982	0.664;0.979	D	0.85814	0.1381	9	0.46703	T	0.11	.	13.9228	0.63942	1.0:0.0:0.0:0.0	.	1876;1901	Q02224-3;Q02224	.;CENPE_HUMAN	H	1901;1901;1876	ENSP00000265148:L1901H;ENSP00000369365:L1876H	ENSP00000265148:L1901H	L	-	2	0	CENPE	104281472	0.909000	0.30893	0.098000	0.21074	0.327000	0.28475	3.413000	0.52686	1.978000	0.57642	0.519000	0.50382	CTC	-	NULL		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		A		-		104062023	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	SNP	0.606	T	T	104062023	A	T	104062023	3	4	226	1	0	0	0	0	1	0	0	0	3232	304	11	5	2459	5	CENPE	4	104062023	Missense_Mutation	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09	81544721	104062023	87092253	14	18225											
DEPDC1B	55789	genome.wustl.edu	37	chr5	59982797	59982797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccattacctgtataaGtgacgattgtcttcaaaatc	7	8	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr5:59982797G>T	ENST00000265036.5	-	2	373	c.306C>A	c.(304-306)caC>caA	p.H102Q	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.H102Q|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.H75Q	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	102	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ACCTGTATAAGTGACGATTGT	0.413																																																	0								ENSG00000035499						254	251	252					5																	59982797		2203	4300	6503	DEPDC1B	SO:0001583	missense	0			-	HGNC	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.306C>A	5.37:g.59982797G>T	ENSP00000265036:p.His102Gln	Somatic	0	31	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	17	46.88	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP							pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.H102Q	ENST00000265036.5	37	c.306	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	0.721	-0.783452	0.02907	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.21734	1.99;1.99;1.99	5.54	2.19	0.27852	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.314266	0.39687	N	0.001289	T	0.07143	0.0181	N	0.04880	-0.145	0.09310	N	0.999991	B;B	0.10296	0.0;0.003	B;B	0.14023	0.001;0.01	T	0.26155	-1.0111	9	.	.	.	-10.548	1.5156	0.02505	0.145:0.1587:0.3738:0.3224	.	102;102	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	Q	102;102;75	ENSP00000265036:H102Q;ENSP00000389101:H102Q;ENSP00000438320:H75Q	.	H	-	3	2	DEPDC1B	60018554	0.000000	0.05858	0.994000	0.49952	0.971000	0.66376	-0.128000	0.10531	0.654000	0.30846	0.561000	0.74099	CAC	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.413	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	protein_coding	OTTHUMT00000214207.1	G	NM_018369	-		59982797	-1	no_errors	ENST00000265036	ensembl	human	known	74_37	missense	SNP	0.188	T	T	59982797	G	T	59982797	3	4	226	1	0	0	0	0	1	0	0	0	4442	1020	36	3	1323	3	DEPDC1B	5	59982797	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09		59982797	120932463	15	18226											
ADAMTS6	11174	genome.wustl.edu	37	chr5	64748637	64748637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccacaaaccgttcaatgCtcactgatctcttctgtctg	5	14	6	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr5:64748637C>A	ENST00000536360.1	-	5	1553	c.740G>T	c.(739-741)aGc>aTc	p.S247I				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	247						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCGTTCAATGCTCACTGATCT	0.428																																																	0								ENSG00000049192						212	183	193					5																	64748637		2203	4300	6503	ADAMTS6	SO:0001583	missense	0			-	HGNC	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.740G>T	5.37:g.64748637C>A	ENSP00000440995:p.Ser247Ile	Somatic	0	34	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.S247I	ENST00000536360.1	37	c.740		5	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485007	0.84854	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.87571	-2.27;-2.27;-2.27	5.49	5.49	0.81192	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	L	0.36672	1.1	0.80722	D	1	P	0.36412	0.552	B	0.35413	0.202	D	0.85001	0.0900	10	0.87932	D	0	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	247	Q9UKP5	ATS6_HUMAN	I	247	ENSP00000370443:S247I;ENSP00000423551:S247I;ENSP00000440995:S247I	ENSP00000261306:S247I	S	-	2	0	ADAMTS6	64784393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.574000	0.86865	0.563000	0.77884	AGC	-	NULL		0.428	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	protein_coding		C	NM_197941	-		64748637	-1	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64748637	C	A	64748637	3	1	226	1	0	0	0	0	1	0	0	0	270	797	28	3	2697	3	ADAMTS6	5	64748637	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	4765840	64748637	116166623	16	18227											
TTC37	9652	genome.wustl.edu	37	chr5	94877519	94877519	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcatacatttcttacCtctcataaagatccaggagc	4	12	3	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr5:94877519C>T	ENST00000358746.2	-	6	624	c.326G>A	c.(325-327)aGt>aAt	p.S109N		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	109						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CATTTCTTACCTCTCATAAAG	0.333																																																	0								ENSG00000198677						75	75	75					5																	94877519		2203	4298	6501	TTC37	SO:0001630	splice_region_variant	0			-	HGNC	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.326+1G>A	5.37:g.94877519C>T		Somatic	0	42	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	35.71	O15077|Q6PJI3	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S109N	ENST00000358746.2	37	c.326	CCDS4072.1	5	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694072	0.68386	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.78595	-1.19;-0.22	5.33	5.33	0.75918	Tetratricopeptide-like helical (1);	0.042203	0.85682	D	0.000000	T	0.80513	0.4637	M	0.66939	2.045	0.58432	D	0.99999	D;P	0.54772	0.968;0.825	P;B	0.46208	0.507;0.299	T	0.80823	-0.1210	9	.	.	.	.	19.4472	0.94852	0.0:1.0:0.0:0.0	.	61;109	D6RCE2;Q6PGP7	.;TTC37_HUMAN	N	109;61	ENSP00000351596:S109N;ENSP00000423742:S61N	.	S	-	2	0	TTC37	94903275	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	4.204000	0.58460	2.662000	0.90505	0.650000	0.86243	AGT	-	NULL		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	protein_coding	OTTHUMT00000241651.1	C	NM_014639	-	Missense_Mutation	94877519	-1	no_errors	ENST00000358746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94877519	C	T	94877519	5	4	226	1	0	0	0	0	0	0	1	0	16712	695	24	2	4520	2	TTC37	5	94877519	Splice_Site	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	30128882	94877519	86037741	17	18228											
F12	2161	genome.wustl.edu	37	chr5	176830374	176830374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgcgcagctgccgtccGcatcctcctgaaggcgcaac	13	16	0	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr5:176830374G>A	ENST00000253496.3	-	12	1460	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	471	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)		Ethanolamine Oleate(DB06689)	GCTGCCGTCCGCATCCTCCTG	0.741									Hereditary Angioedema																																								0								ENSG00000131187						18	22	21					5																	176830374		2199	4292	6491	F12	SO:0001583	missense	0	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	-	HGNC	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1412C>T	5.37:g.176830374G>A	ENSP00000253496:p.Ala471Val	Somatic	0	41	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	P78339	Missense_Mutation	SNP							pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1	p.A471V	ENST00000253496.3	37	c.1412	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784699	0.49997	.	.	ENSG00000131187	ENST00000253496	D	0.86097	-2.07	5.31	-0.981	0.10269	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.193700	0.06134	N	0.671207	T	0.67097	0.2857	N	0.04116	-0.275	0.09310	N	0.999996	P	0.39520	0.676	B	0.32289	0.143	T	0.52939	-0.8508	10	0.21540	T	0.41	.	13.8523	0.63504	0.0:0.0:0.2247:0.7753	.	471	P00748	FA12_HUMAN	V	471	ENSP00000253496:A471V	ENSP00000253496:A471V	A	-	2	0	F12	176762980	0.000000	0.05858	0.000000	0.03702	0.830000	0.47004	0.162000	0.16501	-0.073000	0.12842	0.491000	0.48974	GCG	-	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1		0.741	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	protein_coding	OTTHUMT00000373217.1	G		-		176830374	-1	no_errors	ENST00000253496	ensembl	human	known	74_37	missense	SNP	0.000	A	A	176830374	G	A	176830374	3	1	226	1	0	0	0	0	1	0	0	0	5341	1087	38	1	447	1	F12	5	176830374	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	81952855	176830374	4084886	18	18229											
F13A1	2162	genome.wustl.edu	37	chr6	6266904	6266904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaatttccccacaataCatttgggggaagactggatg	12	8	0	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:6266904C>G	ENST00000264870.3	-	4	723	c.458G>C	c.(457-459)tGt>tCt	p.C153S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	153					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCCACAATACATTTGGGGGA	0.493																																																	0								ENSG00000124491						125	114	118					6																	6266904		2203	4300	6503	F13A1	SO:0001583	missense	0			-	HGNC	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.458G>C	6.37:g.6266904C>G	ENSP00000264870:p.Cys153Ser	Somatic	0	38	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	0	100.00	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.C153S	ENST00000264870.3	37	c.458	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572628	0.65765	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.86030	-2.06	5.65	5.65	0.86999	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	L	0.45352	1.415	0.58432	D	0.999998	P;D	0.63046	0.811;0.992	P;P	0.61658	0.455;0.892	D	0.86552	0.1835	10	0.49607	T	0.09	.	18.7279	0.91722	0.0:1.0:0.0:0.0	.	90;153	F5H080;P00488	.;F13A_HUMAN	S	153;90	ENSP00000264870:C153S	ENSP00000264870:C153S	C	-	2	0	F13A1	6211903	1.000000	0.71417	0.986000	0.45419	0.665000	0.39181	4.719000	0.61937	2.660000	0.90430	0.655000	0.94253	TGT	-	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	protein_coding	OTTHUMT00000039756.3	C	NM_000129	-		6266904	-1	no_errors	ENST00000264870	ensembl	human	known	74_37	missense	SNP	1.000	G	G	6266904	C	G	6266904	3	3	226	1	0	0	0	0	1	0	0	0	5342	478	17	4	1788	4	F13A1	6	6266904	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		6266904	164848163	19	18230											
VARS2	57176	genome.wustl.edu	37	chr6	30887568	30887569	+	Frame_Shift_Ins	INS	-	-	T													acagcttcgtcaccccttgaINStggggcagcctcttcccctc							TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:30887568_30887569insT	ENST00000321897.5	+	11	1740_1741	c.1108_1109insT	c.(1108-1110)atgfs	p.M370fs	VARS2_ENST00000542001.1_Frame_Shift_Ins_p.M230fs|VARS2_ENST00000541562.1_Frame_Shift_Ins_p.M400fs|VARS2_ENST00000416670.2_Frame_Shift_Ins_p.M370fs			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	370					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						TCACCCCTTGATGGGGCAGCCT	0.604																																																	0								ENSG00000137411																																			VARS2	SO:0001589	frameshift_variant	0				HGNC	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.1109dupT	6.37:g.30887569_30887569dupT	ENSP00000316092:p.Met370fs	Somatic	0	38	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Frame_Shift_Ins	INS							pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.M400fs	ENST00000321897.5	37	c.1198_1199	CCDS34387.1	6																																																																																			-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase		0.604	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	protein_coding	OTTHUMT00000076566.2	-	NM_020442			30887569	1	no_errors	ENST00000541562	ensembl	human	known	74_37	frame_shift_ins	INS	0.997:0.960	T	T	30887569	-	T	30887568	7	5	226	1	0	1	1	0	0	0	0	0	17131	333	12	0	1244	0	VARS2	6	30887568	Frame_Shift_Ins	INS	-	TCGA-WK-A8XY-01A-11D-A37C-09	24620664	30887568	140227499	20	18231											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					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						TTCCTCccatcaccaccaccacc	0.645																																																	0								ENSG00000197283																																			SYNGAP1	SO:0001651	inframe_deletion	0				HGNC	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.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del	Somatic	0	47	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL							pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.H961in_frame_del	ENST00000418600.2	37	c.2872_2874	CCDS34434.2	6																																																																																			-	pfam_DUF3498		0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	CAC	XM_166407			33411203	1	no_errors	ENST00000418600	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	33411203	CAC	-	33411201	7	5	226	1	0	1	0	1	0	0	0	0	15454	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-WK-A8XY-01A-11D-A37C-09	2523633	33411201	137703866	21	18232											
ANKS1A	23294	genome.wustl.edu	37	chr6	34937927	34937927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaagggccttcacacaCcagagtcaatgaacaggtcg	9	13	3	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:34937927C>T	ENST00000360359.3	+	3	557	c.419C>T	c.(418-420)aCc>aTc	p.T140I	ANKS1A_ENST00000535627.1_Missense_Mutation_p.T140I	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	140					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTTCACACACCAGAGTCAAT	0.527																																																	0								ENSG00000064999						119	93	102					6																	34937927		2203	4300	6503	ANKS1A	SO:0001583	missense	0			-	HGNC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.419C>T	6.37:g.34937927C>T	ENSP00000353518:p.Thr140Ile	Somatic	0	31	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.T140I	ENST00000360359.3	37	c.419	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218836	0.58560	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.64803	-0.12;-0.12	6.16	6.16	0.99307	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000106	T	0.68091	0.2963	M	0.73430	2.235	0.38228	D	0.940969	B;D	0.53312	0.404;0.959	B;P	0.50109	0.229;0.631	T	0.70487	-0.4858	10	0.56958	D	0.05	-27.687	20.8598	0.99761	0.0:1.0:0.0:0.0	.	140;140	B4DQW8;Q92625	.;ANS1A_HUMAN	I	140	ENSP00000353518:T140I;ENSP00000438752:T140I	ENSP00000353518:T140I	T	+	2	0	ANKS1A	35045905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.192000	0.50989	2.937000	0.99478	0.650000	0.86243	ACC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.527	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	protein_coding	OTTHUMT00000040262.1	C	XM_166478	-		34937927	1	no_errors	ENST00000360359	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34937927	C	T	34937927	3	4	226	1	0	0	0	0	1	0	0	0	688	507	18	2	429	2	ANKS1A	6	34937927	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	1526726	34937927	136177140	22	18233											
POU3F2	5454	genome.wustl.edu	37	chr6	99283560	99283560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccgacctcggacgacctgGagcagttcgccaagcagttc	12	15	0	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:99283560G>A	ENST00000328345.5	+	1	981	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	271	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGACGACCTGGAGCAGTTCGC	0.697																																																	0								ENSG00000184486						104	111	108					6																	99283560		2203	4300	6503	POU3F2	SO:0001583	missense	0			-	HGNC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.811G>A	6.37:g.99283560G>A	ENSP00000329170:p.Glu271Lys	Somatic	0	54	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	13	71.11	Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP							pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.E271K	ENST00000328345.5	37	c.811	CCDS5040.1	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603689	0.87157	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	T	0.71817	-0.6	3.93	3.93	0.45458	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.64402	U	0.000003	T	0.78317	0.4264	M	0.66378	2.025	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.81858	-0.0739	10	0.87932	D	0	.	14.8953	0.70639	0.0:0.0:1.0:0.0	.	271	P20265	PO3F2_HUMAN	K	271;204	ENSP00000329170:E271K	ENSP00000329170:E271K	E	+	1	0	POU3F2	99390281	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.459000	0.97638	2.019000	0.59389	0.305000	0.20034	GAG	-	pirsf_Transcription_factor_POU,pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific		0.697	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	protein_coding	OTTHUMT00000041586.2	G		-		99283560	1	no_errors	ENST00000328345	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99283560	G	A	99283560	3	1	226	1	0	0	0	0	1	0	0	0	12277	1175	41	2	813	2	POU3F2	6	99283560	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	64345633	99283560	71831507	23	18234											
CENPW	387103	genome.wustl.edu	37	chr6	126669615	126669615	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttttccctcttacaggtaAttctaaagaagagcagaggt	8	7	2	3			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:126669615A>T	ENST00000368328.4	+	3	344	c.244A>T	c.(244-246)Att>Ttt	p.I82F	CENPW_ENST00000368326.1_Nonstop_Mutation_p.*68Y|CENPW_ENST00000368325.1_Missense_Mutation_p.I97F			Q5EE01	CENPW_HUMAN	centromere protein W	82					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						CTTACAGGTAATTCTAAAGAA	0.294																																																	0								ENSG00000203760						80	80	80					6																	126669615		2202	4291	6493	CENPW	SO:0001583	missense	0			-	HGNC	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.244A>T	6.37:g.126669615A>T	ENSP00000357311:p.Ile82Phe	Somatic	0	50	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	A6NIR0|A6NJC2	Missense_Mutation	SNP							NULL	p.I97F	ENST00000368328.4	37	c.289	CCDS34529.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.73|15.73	2.919374|2.919374	0.52653|0.52653	.|.	.|.	ENSG00000203760|ENSG00000203760	ENST00000368325;ENST00000368328|ENST00000368326	.|.	.|.	.|.	5.44|5.44	4.29|4.29	0.51040|0.51040	.|.	0.271361|.	0.26289|.	N|.	0.025240|.	T|.	0.43875|.	0.1267|.	.|.	.|.	.|.	0.37676|0.37676	D|D	0.923321|0.923321	P|.	0.51351|.	0.944|.	P|.	0.53722|.	0.733|.	T|.	0.45906|.	-0.9229|.	8|.	0.66056|.	D|.	0.02|.	-1.2271|-1.2271	7.2574|7.2574	0.26183|0.26183	0.9024:0.0:0.0976:0.0|0.9024:0.0:0.0976:0.0	.|.	82|.	Q5EE01|.	CENPW_HUMAN|.	F|Y	97;82|68	.|.	ENSP00000357308:I97F|.	I|X	+|+	1|3	0|2	CENPW|CENPW	126711308|126711308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.600000|2.600000	0.46240|0.46240	2.060000|2.060000	0.61445|0.61445	0.482000|0.482000	0.46254|0.46254	ATT|TAA	-	NULL		0.294	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPW	protein_coding	OTTHUMT00000042104.1	A		-		126669615	1	no_errors	ENST00000368325	ensembl	human	known	74_37	missense	SNP	1.000	T	T	126669615	A	T	126669615	3	4	226	1	0	0	0	0	1	0	0	0	3246	101	4	5	254	5	CENPW	6	126669615	Missense_Mutation	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09	27386055	126669615	44445452	24	18235											
BCLAF1	9774	genome.wustl.edu	37	chr6	136596817	136596817	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtactagcaagcagccTgtctttagtcaaggaagcag	11	8	2	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr6:136596817T>A	ENST00000531224.1	-	6	1957	c.1705A>T	c.(1705-1707)Agg>Tgg	p.R569W	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R567W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R569W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R567W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R567W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R396W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	569					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCAAGCAGCCTGTCTTTAGTC	0.393																																					Colon(142;1534 1789 5427 7063 28491)												0								ENSG00000029363						141	132	135					6																	136596817		2203	4300	6503	BCLAF1	SO:0001583	missense	0			-	HGNC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1705A>T	6.37:g.136596817T>A	ENSP00000435210:p.Arg569Trp	Somatic	0	36	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP							NULL	p.R569W	ENST00000531224.1	37	c.1705	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528018	0.64860	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.46112	0.1376	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.999	D;D;D;D	0.85130	0.994;0.997;0.994;0.987	T	0.49082	-0.8976	10	0.87932	D	0	-8.8662	16.0973	0.81135	0.0:0.0:0.0:1.0	.	567;567;569;396	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	W	569;567;569;396;567;567;569	ENSP00000435210:R569W;ENSP00000229446:R567W;ENSP00000435441:R569W;ENSP00000436501:R396W;ENSP00000434826:R567W;ENSP00000376159:R567W;ENSP00000431734:R569W	ENSP00000229446:R567W	R	-	1	2	BCLAF1	136638510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.846000	0.55888	2.263000	0.75096	0.377000	0.23210	AGG	-	NULL		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	protein_coding	OTTHUMT00000042375.2	T	NM_014739	-		136596817	-1	no_errors	ENST00000531224	ensembl	human	known	74_37	missense	SNP	1.000	A	A	136596817	T	A	136596817	3	1	226	1	0	0	0	0	1	0	0	0	1383	1579	55	5	1089	5	BCLAF1	6	136596817	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09	9927202	136596817	34518250	25	18236											
NEFM	4741	genome.wustl.edu	37	chr8	24772312	24772312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagctagagtcggtgcgcGgcaccaaggagtccctggag	16	11	0	1	rs56902012		TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr8:24772312G>A	ENST00000221166.5	+	1	1788	c.1006G>A	c.(1006-1008)Ggc>Agc	p.G336S	NEFM_ENST00000518131.1_Missense_Mutation_p.G336S|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.G336S			P07197	NFM_HUMAN	neurofilament, medium polypeptide	336	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCGGTGCGCGGCACCAAGGA	0.667													G|||	1	0.000199681	0	0	5008	,	,		14723	0		0.001	False		,,,				2504	0																0			GRCh37	CM023104	NEFM	M	rs56902012	ENSG00000104722	G	SER/GLY	0,4406		0,0,2203	13	14	14	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1006	4.7	1	8	dbSNP_129	14	7,8589		0,7,4291	no	missense	NEFM	NM_005382.2	56	0,7,6494	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	336/917	24772312	7,12995	2203	4298	6501	NEFM	SO:0001583	missense	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1006G>A	8.37:g.24772312G>A	ENSP00000221166:p.Gly336Ser	Somatic	0	18	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP							pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.G336S	ENST00000221166.5	37	c.1006	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958201	0.92726	0.0	8.14E-4	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.88046	-2.33;-2.33;-2.33	4.69	4.69	0.59074	Filament (1);	0.000000	0.46145	D	0.000316	D	0.88551	0.6467	N	0.17278	0.47	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.78314	0.894;0.991	D	0.91038	0.4869	10	0.87932	D	0	.	18.0369	0.89307	0.0:0.0:1.0:0.0	rs56902012	336;336	E7EMV2;P07197	.;NFM_HUMAN	S	336	ENSP00000221166:G336S;ENSP00000427872:G336S;ENSP00000410137:G336S	ENSP00000221166:G336S	G	+	1	0	NEFM	24828217	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	7.918000	0.87506	2.323000	0.78572	0.461000	0.40582	GGC	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.667	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	G	NM_005382	rs56902012		24772312	1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24772312	G	A	24772312	3	1	226	1	0	0	0	0	1	0	0	0	10318	1116	39	1	1008	1	NEFM	8	24772312	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09		24772312	121591710	26	18237											
KIAA2026	158358	genome.wustl.edu	37	chr9	5924834	5924834	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcatcatagtctttcTtcaggcggctcctgaaataa	7	9	5	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr9:5924834T>A	ENST00000399933.3	-	7	2509	c.2510A>T	c.(2509-2511)aAg>aTg	p.K837M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K807M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	837										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATAGTCTTTCTTCAGGCGGCT	0.318																																																	0								ENSG00000183354						74	72	73					9																	5924834		1811	4074	5885	KIAA2026	SO:0001583	missense	0			-	HGNC	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2510A>T	9.37:g.5924834T>A	ENSP00000382815:p.Lys837Met	Somatic	0	36	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP							superfamily_Bromodomain	p.K837M	ENST00000399933.3	37	c.2510		9	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876329	0.72180	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000019	T	0.66626	0.2808	L	0.29908	0.895	0.41256	D	0.986747	D	0.89917	1.0	D	0.91635	0.999	T	0.70898	-0.4747	9	0.72032	D	0.01	-6.7896	15.6867	0.77415	0.0:0.0:0.0:1.0	.	837	Q5HYC2	K2026_HUMAN	M	837;807	.	ENSP00000370870:K807M	K	-	2	0	KIAA2026	5914834	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.255000	0.78338	2.099000	0.63709	0.397000	0.26171	AAG	-	NULL		0.318	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	protein_coding	OTTHUMT00000051652.2	T	NM_001017969	-		5924834	-1	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	5924834	T	A	5924834	3	1	226	1	0	0	0	0	1	0	0	0	8272	1609	56	5	3809	5	KIAA2026	9	5924834	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09		5924834	135288597	27	18238											
TRPM3	80036	genome.wustl.edu	37	chr9	73376522	73376522	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcggaattacctaccaattCcttcttcttcatgcactcca	4	14	3	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr9:73376522C>A	ENST00000377111.2	-	8	1510	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*	TRPM3_ENST00000408909.2_Nonsense_Mutation_p.E270*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.E270*|TRPM3_ENST00000377110.3_Nonsense_Mutation_p.E423*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.E295*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.E425*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.E270*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.E450*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.E295*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.E295*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.E295*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.E270*|TRPM3_ENST00000377101.1_Nonsense_Mutation_p.E270*	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	448					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						CCTACCAATTCCTTCTTCTTC	0.438																																																	0								ENSG00000083067						120	103	109					9																	73376522		2203	4300	6503	TRPM3	SO:0001587	stop_gained	0			-	HGNC	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.1267G>T	9.37:g.73376522C>A	ENSP00000366315:p.Glu423*	Somatic	0	41	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Nonsense_Mutation	SNP							pfam_Ion_trans_dom	p.E450*	ENST00000377111.2	37	c.1348		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.137162|8.137162	0.98672|0.98672	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101|ENST00000396280	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.243127|.	0.38548|.	N|.	0.001648|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.66056|.	D|.	0.02|.	-23.0783|-23.0783	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	423;423;295;295;270;425;270;270;295;295;450;270|269	.|.	ENSP00000350140:E425X|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72566342|72566342	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.965000|0.965000	0.64279|0.64279	5.683000|5.683000	0.68189|0.68189	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA	-	NULL		0.438	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	C	NM_206945	-		73376522	-1	no_errors	ENST00000423814	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	73376522	C	A	73376522	4	1	226	1	0	0	0	0	0	1	0	0	16594	864	30	3	3968	3	TRPM3	9	73376522	Nonsense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	67451688	73376522	67836909	28	18239											
DNM1	1759	genome.wustl.edu	37	chr9	131001728	131001728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtatccttgaaggtcaTgcttctcatcgatatcgagc	8	10	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr9:131001728T>C	ENST00000372923.3	+	12	1519	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T	DNM1_ENST00000486160.1_Missense_Mutation_p.M476T|DNM1_ENST00000475805.1_Missense_Mutation_p.M476T|DNM1_ENST00000393594.3_Missense_Mutation_p.M476T|DNM1_ENST00000341179.7_Missense_Mutation_p.M476T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	476					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TTGAAGGTCATGCTTCTCATC	0.473																																					GBM(113;146 1575 2722 28670 29921)												0								ENSG00000106976						384	384	384					9																	131001728		2203	4300	6503	DNM1	SO:0001583	missense	0			-	HGNC	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1427T>C	9.37:g.131001728T>C	ENSP00000362014:p.Met476Thr	Somatic	0	33	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.M476T	ENST00000372923.3	37	c.1427	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	T	9.905	1.208010	0.22205	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	4.54	4.54	0.55810	Dynamin central domain (1);Pleckstrin homology-type (1);	0.119478	0.64402	D	0.000014	T	0.49575	0.1565	N	0.05177	-0.1	0.54753	D	0.999988	B;B;B	0.27679	0.183;0.066;0.185	B;B;B	0.30105	0.111;0.068;0.091	T	0.47971	-0.9075	10	0.17832	T	0.49	-10.658	14.3224	0.66496	0.0:0.0:0.0:1.0	.	476;476;476	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	T	476;476;476;471;476;476;21	ENSP00000419225:M476T;ENSP00000345680:M476T;ENSP00000362014:M476T;ENSP00000377219:M476T;ENSP00000420045:M476T	ENSP00000345680:M476T	M	+	2	0	DNM1	130041549	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.728000	0.68531	2.025000	0.59659	0.460000	0.39030	ATG	-	pfam_Dynamin_central		0.473	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	protein_coding	OTTHUMT00000054367.1	T	NM_004408	-		131001728	1	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	SNP	1.000	C	C	131001728	T	C	131001728	3	2	226	1	0	0	0	0	1	0	0	0	4672	1464	51	5	1473	5	DNM1	9	131001728	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09	57625206	131001728	10211703	29	18240											
ATP5C1	509	genome.wustl.edu	37	chr10	7844282	7844282	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgacgtgctgcaaaattaCcaagaatacaatctggccaa	8	10	1	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr10:7844282C>A	ENST00000356708.7	+	7	766	c.687C>A	c.(685-687)taC>taA	p.Y229*	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Nonsense_Mutation_p.Y229*|ATP5C1_ENST00000541227.1_Nonsense_Mutation_p.Y182*	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	229					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGCAAAATTACCAAGAATACA	0.418																																					Melanoma(143;1012 1820 16249 30920 33158)												0								ENSG00000165629						121	100	107					10																	7844282		2203	4300	6503	ATP5C1	SO:0001587	stop_gained	0			-	HGNC	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.687C>A	10.37:g.7844282C>A	ENSP00000349142:p.Tyr229*	Somatic	0	18	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Nonsense_Mutation	SNP							pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu	p.Y229*	ENST00000356708.7	37	c.687	CCDS31142.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500468	0.85176	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.5	1.02	0.19986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2887	9.6878	0.40109	0.0:0.5889:0.0:0.4111	.	.	.	.	X	229;229;182	.	ENSP00000338568:Y229X	Y	+	3	2	ATP5C1	7884288	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.550000	0.36223	0.376000	0.24707	0.655000	0.94253	TAC	-	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu		0.418	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5C1	protein_coding	OTTHUMT00000046708.1	C	NM_005174	-		7844282	1	no_errors	ENST00000356708	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	7844282	C	A	7844282	4	1	226	1	0	0	0	0	0	1	0	0	1149	518	18	3	713	3	ATP5C1	10	7844282	Nonsense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		7844282	127690465	30	18241											
CDNF	441549	genome.wustl.edu	37	chr10	14870175	14870175	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctttggtgtccaagCaaaaactgatcaattctttc	5	10	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr10:14870175C>T	ENST00000378442.1	-	0	409				CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						GGTGTCCAAGCAAAAACTGAT	0.368																																																	0								ENSG00000185267						161	163	162					10																	14870175		2203	4300	6503	CDNF	SO:0001623	5_prime_UTR_variant	0			-	HGNC	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"conserved dopamine neurotrophic factor"	611233	"arginine-rich, mutated in early stage tumors-like 1"	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.-95G>A	10.37:g.14870175C>T		Somatic	0	40	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2RUU0|B4DVW3	Missense_Mutation	SNP							pfam_Armet_prot	p.C71Y	ENST00000378442.1	37	c.212		10	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411220	0.83340	.	.	ENSG00000185267	ENST00000465530	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87457	0.2405	9	0.87932	D	0	-18.4103	18.5647	0.91113	0.0:1.0:0.0:0.0	.	71	Q49AH0	CDNF_HUMAN	Y	71	.	ENSP00000419395:C71Y	C	-	2	0	CDNF	14910181	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.025000	0.76449	2.755000	0.94549	0.591000	0.81541	TGC	-	pfam_Armet_prot		0.368	CDNF-001	KNOWN	basic	protein_coding	CDNF	protein_coding	OTTHUMT00000046919.1	C	NM_001029954	-		14870175	-1	no_errors	ENST00000465530	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14870175	C	T	14870175	1	4	226	0	1	0	0	0	0	0	0	0	3170	710	25	2		2	CDNF	10	14870175	5'UTR	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	7025893	14870175	120664572	31	18242											
C10orf71	118461	genome.wustl.edu	37	chr10	50534397	50534397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcacacccctgcccgcGtaccccgccacccagaaggt	7	22	1	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr10:50534397G>A	ENST00000374144.3	+	3	4095	c.3807G>A	c.(3805-3807)gcG>gcA	p.A1269A	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1269				A -> T (in Ref. 2; AL833265). {ECO:0000305}.						endometrium(1)	1						CCCTGCCCGCGTACCCCGCCA	0.667																																																	0								ENSG00000177354						3	6	5					10																	50534397		624	1495	2119	C10orf71	SO:0001819	synonymous_variant	0			-	HGNC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3807G>A	10.37:g.50534397G>A		Somatic	0	103	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	4	91.30	A0AVL8	Silent	SNP							NULL	p.A1269	ENST00000374144.3	37	c.3807	CCDS44387.1	10																																																																																			-	NULL		0.667	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	G	NM_199459	-		50534397	1	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	SNP	0.136	A	A	50534397	G	A	50534397	2	1	226	1	0	0	0	0	0	0	0	1	1616	1132	40	1		1	C10orf71	10	50534397	Silent	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	35664222	50534397	85000350	32	18243											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72489115	72489115	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgccctcgtccgcttgatCatggttggctaccgacaggt	11	12	1	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr10:72489115C>T	ENST00000373207.1	+	5	936	c.936C>T	c.(934-936)atC>atT	p.I312I	ADAMTS14_ENST00000373208.1_Silent_p.I312I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	312	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCCGCTTGATCATGGTTGGCT	0.512																																																	0								ENSG00000138316						94	87	89					10																	72489115		2203	4300	6503	ADAMTS14	SO:0001819	synonymous_variant	0			-	HGNC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.936C>T	10.37:g.72489115C>T		Somatic	0	69	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I312	ENST00000373207.1	37	c.936	CCDS7306.1	10																																																																																			-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.512	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	protein_coding	OTTHUMT00000048522.1	C	NM_080722	-		72489115	1	no_errors	ENST00000373208	ensembl	human	known	74_37	silent	SNP	0.999	T	T	72489115	C	T	72489115	2	4	226	1	0	0	0	0	0	0	0	1	259	816	29	2		2	ADAMTS14	10	72489115	Silent	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	21954718	72489115	63045632	33	18244											
PTEN	5728	genome.wustl.edu	37	chr10	89653790	89653790	+	Frame_Shift_Del	DEL	C	C	-													taaagtactcagatatttatCcaaacattattgctatggga							TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr10:89653790delC	ENST00000371953.3	+	2	1445	c.88delC	c.(88-90)ccafs	p.P30fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	30	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(3)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGATATTTATCCAAACATTAT	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	48	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(3)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)						ENSG00000171862						98	99	99					10																	89653790		2203	4293	6496	PTEN	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.		HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.88delC	10.37:g.89653790delC	ENSP00000361021:p.Pro30fs	Somatic	0	39	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	4	82.61	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P30fs	ENST00000371953.3	37	c.88	CCDS31238.1	10																																																																																			-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	C	NM_000314			89653790	1	no_errors	ENST00000371953	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	89653790	C	-	89653790	7	5	226	1	0	1	0	1	0	0	0	0	12743	855	30	0	94	0	PTEN	10	89653790	Frame_Shift_Del	DEL	C	TCGA-WK-A8XY-01A-11D-A37C-09	17164675	89653790	45880957	34	18245											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118204020	118204020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcttattttattgatgttCtcatggtaagaagagttgat	10	3	1	4			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr10:118204020C>A	ENST00000369230.3	+	4	597	c.451C>A	c.(451-453)Ctc>Atc	p.L151I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	151					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TATTGATGTTCTCATGGTAAG	0.323																																																	0								ENSG00000203837						165	162	163					10																	118204020		2203	4300	6503	PNLIPRP3	SO:0001583	missense	0			-	HGNC	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.451C>A	10.37:g.118204020C>A	ENSP00000358232:p.Leu151Ile	Somatic	0	55	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Missense_Mutation	SNP							pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.L151I	ENST00000369230.3	37	c.451	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577770	0.45902	.	.	ENSG00000203837	ENST00000369230	D	0.95272	-3.66	5.09	3.21	0.36854	Lipase, N-terminal (1);	0.000000	0.46758	D	0.000271	D	0.95853	0.8650	M	0.75085	2.285	0.09310	N	1	D	0.64830	0.994	D	0.67725	0.953	D	0.89757	0.3944	10	0.87932	D	0	.	6.9442	0.24510	0.0:0.691:0.1463:0.1626	.	151	Q17RR3	LIPR3_HUMAN	I	151	ENSP00000358232:L151I	ENSP00000358232:L151I	L	+	1	0	PNLIPRP3	118194010	0.559000	0.26562	0.013000	0.15412	0.090000	0.18270	0.883000	0.28200	0.635000	0.30488	-0.283000	0.09986	CTC	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.323	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	protein_coding	OTTHUMT00000050520.1	C	XM_058404	-		118204020	1	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	SNP	0.113	A	A	118204020	C	A	118204020	3	1	226	1	0	0	0	0	1	0	0	0	12154	913	32	3	465	3	PNLIPRP3	10	118204020	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	28550230	118204020	17330727	35	18246											
TRPM5	29850	genome.wustl.edu	37	chr11	2443503	2443503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgccactcagcaagcaGcaggtcaaagagcacagacg	12	12	2	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr11:2443503G>T	ENST00000155858.6	-	2	174	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	TRPM5_ENST00000452833.1_Missense_Mutation_p.L56M|TRPM5_ENST00000528453.1_Missense_Mutation_p.L56M|TRPM5_ENST00000533060.1_Missense_Mutation_p.L56M	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAGCAAGCAGCAGGTCAAAG	0.657																																					NSCLC(1;49 61 17205 18850 43201)												0								ENSG00000070985						53	56	55					11																	2443503		2200	4299	6499	TRPM5	SO:0001583	missense	0			-	HGNC	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.166C>A	11.37:g.2443503G>T	ENSP00000155858:p.Leu56Met	Somatic	0	60	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							superfamily_Ankyrin_rpt-contain_dom	p.L56M	ENST00000155858.6	37	c.166	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.393876	0.00200	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	2.64	0.608	0.17569	.	0.148151	0.30620	U	0.009233	T	0.01905	0.0060	N	0.10733	0.035	0.29904	N	0.824137	B;B;B	0.31680	0.335;0.335;0.114	B;B;B	0.31812	0.136;0.136;0.131	T	0.44205	-0.9343	10	0.02654	T	1	-6.222	7.0545	0.25091	0.0:0.0:0.5092:0.4908	.	56;56;56	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	M	48;56;56;56;56;56	ENSP00000434383:L48M;ENSP00000155858:L56M;ENSP00000387965:L56M;ENSP00000434121:L56M;ENSP00000436809:L56M	ENSP00000155858:L56M	L	-	1	2	TRPM5	2400079	0.959000	0.32827	0.082000	0.20525	0.032000	0.12392	0.670000	0.25157	0.183000	0.20059	-0.195000	0.12781	CTG	-	NULL		0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	G	NM_014555	-		2443503	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2443503	G	T	2443503	3	4	226	1	0	0	0	0	1	0	0	0	16596	962	34	3	3423	3	TRPM5	11	2443503	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09		2443503	132563013	36	18247											
PDE3B	5140	genome.wustl.edu	37	chr11	14882773	14882773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatgatgtaaatagtaatgGcatagaatggagtaatgaaa	10	1	0	3			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr11:14882773G>T	ENST00000282096.4	+	14	3100	c.2747G>T	c.(2746-2748)gGc>gTc	p.G916V	PDE3B_ENST00000455098.2_Missense_Mutation_p.G865V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	916	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AATAGTAATGGCATAGAATGG	0.353																																																	0								ENSG00000152270						84	80	81					11																	14882773		2200	4294	6494	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2747G>T	11.37:g.14882773G>T	ENSP00000282096:p.Gly916Val	Somatic	0	45	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.G916V	ENST00000282096.4	37	c.2747	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558535	0.86231	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.78595	-1.19;-1.19	5.51	5.51	0.81932	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.754898	0.12835	N	0.435299	D	0.87740	0.6253	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.85394	0.1127	10	0.45353	T	0.12	.	19.4137	0.94687	0.0:0.0:1.0:0.0	.	865;916	B7ZM37;Q13370	.;PDE3B_HUMAN	V	916;865	ENSP00000282096:G916V;ENSP00000388644:G865V	ENSP00000282096:G916V	G	+	2	0	PDE3B	14839349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.579000	0.87056	0.591000	0.81541	GGC	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.353	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	G	NM_000922	-		14882773	1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14882773	G	T	14882773	3	4	226	1	0	0	0	0	1	0	0	0	11640	1203	42	3	2801	3	PDE3B	11	14882773	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	12439270	14882773	120123743	37	18248											
PYGM	5837	genome.wustl.edu	37	chr11	64527303	64527303	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagctcagtcacgttcTccacgccggccaggccacgc	9	17	4	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr11:64527303T>A	ENST00000164139.3	-	1	466	c.68A>T	c.(67-69)gAg>gTg	p.E23V	PYGM_ENST00000377432.3_Missense_Mutation_p.E23V	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	23					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTCACGTTCTCCACGCCGGC	0.572																																																	0								ENSG00000068976						187	172	177					11																	64527303		2201	4297	6498	PYGM	SO:0001583	missense	0			-	HGNC		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.68A>T	11.37:g.64527303T>A	ENSP00000164139:p.Glu23Val	Somatic	0	41	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A0AVK1|A6NDY6	Missense_Mutation	SNP							pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.E23V	ENST00000164139.3	37	c.68	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903226	0.72754	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94417	-3.2;-3.42	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000016	D	0.96309	0.8796	M	0.73372	2.23	0.80722	D	1	D;B	0.57899	0.981;0.213	D;B	0.67231	0.95;0.187	D	0.95532	0.8604	10	0.35671	T	0.21	-34.9977	13.3929	0.60834	0.0:0.0:0.0:1.0	.	23;23	A6NDY6;P11217	.;PYGM_HUMAN	V	23	ENSP00000366650:E23V;ENSP00000164139:E23V	ENSP00000164139:E23V	E	-	2	0	PYGM	64283879	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.849000	0.62882	2.071000	0.62044	0.533000	0.62120	GAG	-	pirsf_Glyco_trans_35		0.572	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	T	NM_005609	-		64527303	-1	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	SNP	1.000	A	A	64527303	T	A	64527303	3	1	226	1	0	0	0	0	1	0	0	0	12870	1551	54	5	2540	5	PYGM	11	64527303	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09	49644530	64527303	70479213	38	18249											
LTBP3	4054	genome.wustl.edu	37	chr11	65325325	65325326	+	In_Frame_Ins	INS	-	-	CAGCAG													tcgaccctgccgcccaggccINScagcagcagcagcagcagca					rs535365850|rs577530923|rs71036212	byFrequency	TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr11:65325325_65325326insCAGCAG	ENST00000301873.5	-	1	373_374	c.105_106insCTGCTG	c.(103-108)ctgggc>ctgCTGCTGggc	p.34_35insLL	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Ins_p.34_35insLL	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	34	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						ccgcccaggcccagcagcagca	0.812														259	0.0517173	0.0182	0.0504	5008	,	,		4999	0.0258		0.1034	False		,,,				2504	0.0716																0								ENSG00000168056																																			LTBP3	SO:0001652	inframe_insertion	0				HGNC	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.100_105dupCTGCTG	11.37:g.65325326_65325331dupCAGCAG	ENSP00000301873:p.Leu33_Leu34dup	Somatic					0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1				O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Ins	INS							pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.35in_frame_insLL	ENST00000301873.5	37	c.106_105	CCDS44647.1	11																																																																																			-	NULL		0.812	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	-	NM_021070			65325326	-1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_ins	INS	1.000:0.996	CAGCAG	CAGCAG	65325326	-	CAGCAG	65325325	7	5	226	1	0	1	1	0	0	0	0	0	9077	623	22	0	3917	0	LTBP3	11	65325325	In_Frame_Ins	INS	-	TCGA-WK-A8XY-01A-11D-A37C-09	798022	65325325	69681191	39	18250											
MMP10	4319	genome.wustl.edu	37	chr11	102647402	102647402	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcggaactgggcgagctctGtgaatgagttgtagagtggg	19	5	1	3			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr11:102647402G>C	ENST00000279441.4	-	5	764	c.728C>G	c.(727-729)aCa>aGa	p.T243R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	243					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	GGCGAGCTCTGTGAATGAGTT	0.473																																																	0								ENSG00000166670						142	130	134					11																	102647402		2203	4299	6502	MMP10	SO:0001583	missense	0			-	HGNC	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.728C>G	11.37:g.102647402G>C	ENSP00000279441:p.Thr243Arg	Somatic	0	39	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	5	79.17	B2R9X9|Q53HH9	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.T243R	ENST00000279441.4	37	c.728	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	g	6.237	0.411934	0.11812	.	.	ENSG00000166670	ENST00000279441	T	0.21031	2.03	4.31	2.31	0.28768	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.402067	0.21145	N	0.079401	T	0.18551	0.0445	L	0.29908	0.895	0.09310	N	0.999995	D	0.56746	0.977	P	0.53185	0.72	T	0.10405	-1.0631	10	0.12103	T	0.63	.	6.8148	0.23824	0.0812:0.0:0.6022:0.3166	.	243	P09238	MMP10_HUMAN	R	243	ENSP00000279441:T243R	ENSP00000279441:T243R	T	-	2	0	MMP10	102152612	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	-1.235000	0.02928	0.476000	0.27440	0.655000	0.94253	ACA	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.473	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	protein_coding	OTTHUMT00000398014.1	G		-		102647402	-1	no_errors	ENST00000279441	ensembl	human	known	74_37	missense	SNP	0.012	C	C	102647402	G	C	102647402	3	2	226	1	0	0	0	0	1	0	0	0	9651	1377	48	4	726	4	MMP10	11	102647402	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	37322077	102647402	32359114	40	18251											
HOXC13	3229	genome.wustl.edu	37	chr12	54333237	54333237	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttcgccagctcctacCaggcgatgcccggctacctg	10	18	0	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr12:54333237C>T	ENST00000243056.3	+	1	703	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	183					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	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)			breast(1)|large_intestine(1)|skin(1)	3						CAGCTCCTACCAGGCGATGCC	0.687			T	NUP98	AML																																			Dom	yes		12	12q13.3	3229	homeo box C13		L	0								ENSG00000123364						20	21	21					12																	54333237		2198	4293	6491	HOXC13	SO:0001587	stop_gained	0			-	HGNC		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.547C>T	12.37:g.54333237C>T	ENSP00000243056:p.Gln183*	Somatic	0	33	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	7	80.56	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Nonsense_Mutation	SNP							pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q183*	ENST00000243056.3	37	c.547	CCDS8865.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.454397	0.97581	.	.	ENSG00000123364	ENST00000243056	.	.	.	2.87	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6314	0.62198	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000243056:Q183X	Q	+	1	0	HOXC13	52619504	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.070000	0.76763	1.955000	0.56771	0.313000	0.20887	CAG	-	NULL		0.687	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC13	protein_coding	OTTHUMT00000358865.2	C		-		54333237	1	no_errors	ENST00000243056	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	54333237	C	T	54333237	4	4	226	1	0	0	0	0	0	1	0	0	7314	595	21	2	549	2	HOXC13	12	54333237	Nonsense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		54333237	79518658	41	18252											
GAS2L3	283431	genome.wustl.edu	37	chr12	101017941	101017941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattccagcccagaattcagCagatctgcccgagtccacac	7	15	2	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr12:101017941C>T	ENST00000539410.1	+	9	1744	c.1358C>T	c.(1357-1359)gCa>gTa	p.A453V	GAS2L3_ENST00000266754.5_Missense_Mutation_p.A453V|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A453V|GAS2L3_ENST00000537247.1_Missense_Mutation_p.A349V			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	453					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGAATTCAGCAGATCTGCCC	0.413																																																	0								ENSG00000139354						89	92	91					12																	101017941		2203	4300	6503	GAS2L3	SO:0001583	missense	0			-	HGNC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1358C>T	12.37:g.101017941C>T	ENSP00000439672:p.Ala453Val	Somatic	0	17	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	B2RCN2	Missense_Mutation	SNP							pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.A453V	ENST00000539410.1	37	c.1358	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302562	0.23736	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.24151	1.88;1.88;1.87;1.88	5.84	0.536	0.17138	.	1.124180	0.06460	N	0.729296	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.30078	T	0.28	-0.0917	6.0106	0.19573	0.1421:0.5295:0.2269:0.1016	.	453	Q86XJ1	GA2L3_HUMAN	V	453;453;349;453	ENSP00000266754:A453V;ENSP00000448955:A453V;ENSP00000442406:A349V;ENSP00000439672:A453V	ENSP00000266754:A453V	A	+	2	0	GAS2L3	99542072	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.007000	0.12810	-0.172000	0.10779	-0.171000	0.13296	GCA	-	NULL		0.413	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	protein_coding	OTTHUMT00000409143.1	C	NM_174942	-		101017941	1	no_errors	ENST00000266754	ensembl	human	known	74_37	missense	SNP	0.000	T	T	101017941	C	T	101017941	3	4	226	1	0	0	0	0	1	0	0	0	6250	710	25	2	1388	2	GAS2L3	12	101017941	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	46684704	101017941	32833954	42	18253											
LIG4	3981	genome.wustl.edu	37	chr13	108862339	108862339	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttttaccataattccctcTtctcttttatctattgcttc	2	11	3	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr13:108862339T>A	ENST00000356922.4	-	2	1550	c.1278A>T	c.(1276-1278)gaA>gaT	p.E426D	LIG4_ENST00000405925.1_Missense_Mutation_p.E426D|LIG4_ENST00000442234.1_Missense_Mutation_p.E426D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	426					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAATTCCCTCTTCTCTTTTAT	0.358								Non-homologous end-joining																																									0								ENSG00000174405						139	139	139					13																	108862339		2203	4299	6502	LIG4	SO:0001583	missense	0			-	HGNC	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1278A>T	13.37:g.108862339T>A	ENSP00000349393:p.Glu426Asp	Somatic	0	35	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q8IY66|Q8TEU5	Missense_Mutation	SNP							pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.E426D	ENST00000356922.4	37	c.1278	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833419	0.50951	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.81330	-1.48;-1.48;-1.48	5.19	2.72	0.32119	DNA ligase, ATP-dependent, central (2);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	M	0.62088	1.915	0.58432	D	0.999992	D	0.55605	0.972	P	0.61070	0.883	T	0.77890	-0.2419	10	0.13108	T	0.6	.	8.168	0.31239	0.0:0.2312:0.0:0.7688	.	426	P49917	DNLI4_HUMAN	D	426	ENSP00000385955:E426D;ENSP00000402030:E426D;ENSP00000349393:E426D	ENSP00000349393:E426D	E	-	3	2	LIG4	107660340	0.975000	0.34042	1.000000	0.80357	0.698000	0.40448	0.117000	0.15583	0.915000	0.36847	-0.274000	0.10170	GAA	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	protein_coding	OTTHUMT00000045738.4	T	NM_002312	-		108862339	-1	no_errors	ENST00000356922	ensembl	human	known	74_37	missense	SNP	1.000	A	A	108862339	T	A	108862339	3	1	226	1	0	0	0	0	1	0	0	0	8785	1606	56	5	1461	5	LIG4	13	108862339	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09		108862339	6307539	43	18254											
MDP1	145553	genome.wustl.edu	37	chr14	24683307	24683307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcaaatgtctctaacccttGacttagagtttgaagattca	7	9	2	4			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr14:24683307G>A	ENST00000288087.7	-	6	565	c.454C>T	c.(454-456)Caa>Taa	p.Q152*	CHMP4A_ENST00000609024.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Nonsense_Mutation_p.Q169*|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000347519.6_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|MDP1_ENST00000396833.2_Missense_Mutation_p.S105L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	152						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TCTAACCCTTGACTTAGAGTT	0.433																																																	0								ENSG00000213920						82	82	82					14																	24683307		2203	4300	6503	MDP1	SO:0001587	stop_gained	0			-	HGNC	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"fructosamine-6-phosphatase"					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.454C>T	14.37:g.24683307G>A	ENSP00000288087:p.Gln152*	Somatic	0	22	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	Q86Y84|Q8NAD9	Nonsense_Mutation	SNP							pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	p.Q152*	ENST00000288087.7	37	c.454	CCDS9620.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.809790|3.809790	0.70797|0.70797	.|.	.|.	ENSG00000213920;ENSG00000255526|ENSG00000213920	ENST00000288087;ENST00000534348|ENST00000396833	.|.	.|.	.|.	5.25|5.25	3.22|3.22	0.36961|0.36961	.|.	0.317545|.	0.17362|.	U|.	0.177013|.	.|T	.|0.18173	.|0.0436	.|.	.|.	.|.	0.23282|0.23282	N|N	0.997983|0.997983	.|P	.|0.36909	.|0.573	.|B	.|0.40901	.|0.343	.|T	.|0.15954	.|-1.0419	.|7	0.07325|0.02654	T|T	0.83|1	-8.3948|-8.3948	7.5144|7.5144	0.27592|0.27592	0.0:0.1719:0.6255:0.2025|0.0:0.1719:0.6255:0.2025	.|.	.|105	.|Q86V88-3	.|.	X|L	152;169|105	.|.	ENSP00000288087:Q152X|ENSP00000380045:S105L	Q|S	-|-	1|2	0|0	MDP1;NEDD8-MDP1|MDP1	23753147|23753147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.295000|1.295000	0.33377|0.33377	1.398000|1.398000	0.46701|0.46701	0.655000|0.655000	0.94253|0.94253	CAA|TCA	-	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc		0.433	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MDP1	protein_coding	OTTHUMT00000257367.1	G	NM_138476	-		24683307	-1	no_errors	ENST00000288087	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	24683307	G	A	24683307	4	1	226	1	0	0	0	0	0	1	0	0	9418	1299	45	2	80	2	MDP1	14	24683307	Nonsense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09		24683307	82666233	44	18255											
BNC1	646	genome.wustl.edu	37	chr15	83932303	83932303	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgaccacctgtaggggcAtgtcttcatctgagctgagg	12	11	3	3			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr15:83932303A>T	ENST00000345382.2	-	4	1785	c.1700T>A	c.(1699-1701)aTg>aAg	p.M567K	BNC1_ENST00000569704.1_Missense_Mutation_p.M560K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	567					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTGTAGGGGCATGTCTTCATC	0.473																																																	0								ENSG00000169594						213	200	204					15																	83932303		2203	4300	6503	BNC1	SO:0001583	missense	0			-	HGNC	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1700T>A	15.37:g.83932303A>T	ENSP00000307041:p.Met567Lys	Somatic	0	46	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	25	56.90	Q15840	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M567K	ENST00000345382.2	37	c.1700	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	A	9.230	1.035552	0.19590	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.40756	1.02	5.14	-2.68	0.06041	.	1.842970	0.02178	N	0.060297	T	0.32585	0.0834	L	0.44542	1.39	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.11329	0.006;0.006	T	0.08207	-1.0733	10	0.30854	T	0.27	-1.7477	4.2797	0.10827	0.3267:0.1191:0.4383:0.1159	.	560;567	F5GY04;Q01954	.;BNC1_HUMAN	K	567;560	ENSP00000307041:M567K	ENSP00000307041:M567K	M	-	2	0	BNC1	81723307	0.000000	0.05858	0.001000	0.08648	0.974000	0.67602	0.098000	0.15189	-0.713000	0.04981	0.533000	0.62120	ATG	-	NULL		0.473	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	protein_coding	OTTHUMT00000304006.1	A	NM_001717	-		83932303	-1	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	SNP	0.001	T	T	83932303	A	T	83932303	3	4	226	1	0	0	0	0	1	0	0	0	1474	217	8	5	1292	5	BNC1	15	83932303	Missense_Mutation	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09		83932303	18599089	45	18256											
PDXDC1	23042	genome.wustl.edu	37	chr16	15129356	15129356	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacaaagcacaaggtgcaGgagtcacgctgcctccaacg	10	13	2	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr16:15129356G>T	ENST00000396410.4	+	22	2150	c.2053G>T	c.(2053-2055)Gga>Tga	p.G685*	PDXDC1_ENST00000563679.1_Nonsense_Mutation_p.G703*|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000325823.7_Nonsense_Mutation_p.G670*|PDXDC1_ENST00000450288.2_Nonsense_Mutation_p.G657*|PDXDC1_ENST00000447912.2_Nonsense_Mutation_p.G594*|PDXDC1_ENST00000569715.1_Nonsense_Mutation_p.G658*	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	685					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)			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						ACAAGGTGCAGGAGTCACGCT	0.587																																																	0								ENSG00000179889						42	38	39					16																	15129356		2197	4300	6497	PDXDC1	SO:0001587	stop_gained	0			-	HGNC	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.2053G>T	16.37:g.15129356G>T	ENSP00000379691:p.Gly685*	Somatic	0	46	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Nonsense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.G685*	ENST00000396410.4	37	c.2053	CCDS32393.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.249718	0.95305	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	.	.	.	5.83	4.86	0.63082	.	0.152311	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.9852	15.846	0.78890	0.0:0.1359:0.8641:0.0	.	.	.	.	X	670;594;685;657	.	ENSP00000322807:G670X	G	+	1	0	PDXDC1	15036857	0.996000	0.38824	0.300000	0.25030	0.071000	0.16799	2.520000	0.45554	1.433000	0.47394	0.563000	0.77884	GGA	-	NULL		0.587	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	protein_coding	OTTHUMT00000389065.2	G	NM_015027	-		15129356	1	no_errors	ENST00000396410	ensembl	human	known	74_37	nonsense	SNP	0.973	T	T	15129356	G	T	15129356	4	4	226	1	0	0	0	0	0	1	0	0	11698	1001	35	3	2139	3	PDXDC1	16	15129356	Nonsense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09		15129356	75225397	46	18257											
TP53	7157	genome.wustl.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	14	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_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.?(56)|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)	GCAAACCAGACCTCAGGCGGC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S		ENSG00000141510						80	75	77					17																	7578176		2203	4300	6503	TP53	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;	-	HGNC	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.672+1G>T	17.37:g.7578176C>A		Somatic	0	37	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	2	94.59	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							-	e5+1	ENST00000269305.4	37	c.672+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.	-	-		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578176	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	7578176	C	A	7578176	5	1	226	1	0	0	0	0	0	0	1	0	16388	521	18	3	621	3	TP53	17	7578176	Splice_Site	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		7578176	73617034	47	18258											
MYOCD	93649	genome.wustl.edu	37	chr17	12649370	12649370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaccaggcccactcccacCtaacctggatgatctgaagg	8	15	1	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr17:12649370C>A	ENST00000343344.4	+	9	1106	c.1106C>A	c.(1105-1107)cCt>cAt	p.P369H	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P273H|MYOCD_ENST00000425538.1_Missense_Mutation_p.P369H			Q8IZQ8	MYCD_HUMAN	myocardin	369					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCACTCCCACCTAACCTGGAT	0.408																																																	0								ENSG00000141052						110	106	107					17																	12649370		2203	4300	6503	MYOCD	SO:0001583	missense	0			-	HGNC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1106C>A	17.37:g.12649370C>A	ENSP00000341835:p.Pro369His	Somatic	0	56	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.43	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP							pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.P369H	ENST00000343344.4	37	c.1106	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357855	0.61403	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.45276	0.9;0.9	5.71	3.7	0.42460	.	0.441483	0.27076	N	0.021047	T	0.31104	0.0786	N	0.08118	0	0.33492	D	0.58884	P;P;P;P	0.44195	0.523;0.654;0.828;0.736	B;P;P;B	0.49276	0.285;0.605;0.605;0.401	T	0.48547	-0.9026	10	0.72032	D	0.01	-1.6609	9.8532	0.41070	0.1395:0.7869:0.0:0.0736	.	88;273;369;369	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	H	88;369;369;273;74	ENSP00000341835:P369H;ENSP00000400148:P74H	ENSP00000341835:P369H	P	+	2	0	MYOCD	12590095	0.624000	0.27102	0.943000	0.38184	0.989000	0.77384	5.841000	0.69409	0.744000	0.32741	0.561000	0.74099	CCT	-	NULL		0.408	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	protein_coding	OTTHUMT00000129950.1	C	NM_153604	-		12649370	1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	SNP	0.992	A	A	12649370	C	A	12649370	3	1	226	1	0	0	0	0	1	0	0	0	10089	681	24	3	1140	3	MYOCD	17	12649370	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	5071194	12649370	68545840	48	18259											
C17orf71	55181	genome.wustl.edu	37	chr17	57288309	57288309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacattctcccaaaaggagGctgcagcatgccctggagga	11	11	1	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr17:57288309G>A	ENST00000543872.2	+	2	1161	c.897G>A	c.(895-897)agG>agA	p.R299R	SMG8_ENST00000300917.5_Silent_p.R299R|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.R299R|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	299					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCAAAAGGAGGCTGCAGCATG	0.502																																																	0								ENSG00000167447						65	66	66					17																	57288309		2203	4300	6503	SMG8	SO:0001819	synonymous_variant	0			-	HGNC	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.897G>A	17.37:g.57288309G>A		Somatic	0	33	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	29	40.82	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP							pfam_Smg8/Smg9	p.R299	ENST00000543872.2	37	c.897	CCDS11615.1	17																																																																																			-	pfam_Smg8/Smg9		0.502	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	protein_coding	OTTHUMT00000445960.2	G	NM_018149	-		57288309	1	no_errors	ENST00000300917	ensembl	human	known	74_37	silent	SNP	0.996	A	A	57288309	G	A	57288309	2	1	226	1	0	0	0	0	0	0	0	1	1880	1194	42	2		2	C17orf71	17	57288309	Silent	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	44638939	57288309	23906901	49	18260											
EVPL	2125	genome.wustl.edu	37	chr17	74004699	74004699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatcttccaggacgcgGtccttctgcacccggatcac	9	17	4	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr17:74004699G>A	ENST00000301607.3	-	22	4840	c.4587C>T	c.(4585-4587)gaC>gaT	p.D1529D	EVPL_ENST00000586740.1_Silent_p.D1551D|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1529	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCAGGACGCGGTCCTTCTGCA	0.642																																																	0								ENSG00000167880						127	95	106					17																	74004699		2203	4300	6503	EVPL	SO:0001819	synonymous_variant	0			-	HGNC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4587C>T	17.37:g.74004699G>A		Somatic	0	33	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	31	46.55	A0AUV5	Silent	SNP							pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D1529	ENST00000301607.3	37	c.4587	CCDS11737.1	17																																																																																			-	NULL		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	G	NM_001988	-		74004699	-1	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	SNP	1.000	A	A	74004699	G	A	74004699	2	1	226	1	0	0	0	0	0	0	0	1	5294	1252	44	2		2	EVPL	17	74004699	Silent	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	16716390	74004699	7190511	50	18261											
CBX4	8535	genome.wustl.edu	37	chr17	77807835	77807835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataattatattcccaaagaAgggcttgaactcgctcagcg	9	9	1	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr17:77807835A>G	ENST00000269397.4	-	5	1783	c.1606T>C	c.(1606-1608)Ttc>Ctc	p.F536L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	536	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTCCCAAAGAAGGGCTTGAAC	0.627																																																	0								ENSG00000141582						59	68	65					17																	77807835		2203	4300	6503	CBX4	SO:0001583	missense	0			-	HGNC	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1606T>C	17.37:g.77807835A>G	ENSP00000269397:p.Phe536Leu	Somatic	0	43	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	28	52.54	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP							pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.F536L	ENST00000269397.4	37	c.1606	CCDS32758.1	17	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611886	0.87258	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.16	3.16	0.36331	.	0.385355	0.25968	N	0.027159	T	0.65595	0.2706	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.67864	-0.5560	9	0.87932	D	0	-34.8339	10.4735	0.44650	1.0:0.0:0.0:0.0	.	536	O00257	CBX4_HUMAN	L	536;266	.	ENSP00000269397:F536L	F	-	1	0	CBX4	75422430	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.286000	0.89916	1.465000	0.48006	0.249000	0.18162	TTC	-	NULL		0.627	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	protein_coding	OTTHUMT00000318007.1	A	NM_003655	-		77807835	-1	no_errors	ENST00000269397	ensembl	human	known	74_37	missense	SNP	1.000	G	G	77807835	A	G	77807835	3	3	226	1	0	0	0	0	1	0	0	0	2722	72	3	5	80	5	CBX4	17	77807835	Missense_Mutation	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09	3803136	77807835	3387375	51	18262											
POTEC	388468	genome.wustl.edu	37	chr18	14542640	14542640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttacctcttttgcttgtccCtcttgttcatgtccgtgtcc	7	13	3	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr18:14542640C>A	ENST00000358970.5	-	1	505	c.506G>T	c.(505-507)aGg>aTg	p.R169M	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	169										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTTGTCCCTCTTGTTCAT	0.602																																																	0								ENSG00000183206						295	276	281					18																	14542640		692	1591	2283	POTEC	SO:0001583	missense	0			-	HGNC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.506G>T	18.37:g.14542640C>A	ENSP00000351856:p.Arg169Met	Somatic	0	167	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	107	43.39		Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R169M	ENST00000358970.5	37	c.506	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	C	4.775	0.144155	0.09134	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.55234	0.53	1.44	-2.87	0.05700	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.57140	0.2033	M	0.76838	2.35	0.09310	N	1	P	0.47545	0.897	P	0.51657	0.676	T	0.53592	-0.8417	9	0.87932	D	0	.	3.723	0.08463	0.0:0.2779:0.4058:0.3163	.	169	B2RU33	POTEC_HUMAN	M	169	ENSP00000351856:R169M	ENSP00000351856:R169M	R	-	2	0	POTEC	14532640	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.418000	0.02462	-2.065000	0.00887	-2.969000	0.00081	AGG	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.602	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	protein_coding	OTTHUMT00000371179.1	C	XM_496269	-		14542640	-1	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14542640	C	A	14542640	3	1	226	1	0	0	0	0	1	0	0	0	12264	681	24	3	1166	3	POTEC	18	14542640	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		14542640	63534608	52	18263											
AP3D1	8943	genome.wustl.edu	37	chr19	2121178	2121178	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaccactcgaagttggtgaTgtactggtagttggactggc	14	8	0	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:2121178T>A	ENST00000345016.5	-	13	1465	c.1234A>T	c.(1234-1236)Atc>Ttc	p.I412F	AP3D1_ENST00000350812.6_Missense_Mutation_p.I243F|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000355272.6_Missense_Mutation_p.I412F|AP3D1_ENST00000356926.4_Missense_Mutation_p.I321F	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	412					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		AAGTTGGTGATGTACTGGTAG	0.607																																																	0								ENSG00000065000						157	176	170					19																	2121178		2169	4270	6439	AP3D1	SO:0001583	missense	0			-	HGNC	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1234A>T	19.37:g.2121178T>A	ENSP00000344055:p.Ile412Phe	Somatic	0	39	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP							pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.I412F	ENST00000345016.5	37	c.1234	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793951	0.90453	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.38722	1.74;1.74;1.12;1.74	4.91	4.91	0.64330	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.75020	0.961;0.985;0.984	T	0.78221	-0.2288	10	0.87932	D	0	-42.8571	13.7045	0.62629	0.0:0.0:0.0:1.0	.	412;412;321	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	F	321;412;412;412;243	ENSP00000349398:I321F;ENSP00000344055:I412F;ENSP00000347416:I412F;ENSP00000342321:I243F	ENSP00000341579:I412F	I	-	1	0	AP3D1	2072178	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.122000	0.57910	1.848000	0.53677	0.379000	0.24179	ATC	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.607	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	protein_coding	OTTHUMT00000450912.1	T		-		2121178	-1	no_errors	ENST00000355272	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2121178	T	A	2121178	3	1	226	1	0	0	0	0	1	0	0	0	746	1464	51	5	2457	5	AP3D1	19	2121178	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09		2121178	57007805	53	18264											
MUC16	94025	genome.wustl.edu	37	chr19	9056486	9056486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggcaggctctctgcAatggtggacagagtagcatc	14	8	1	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:9056486A>G	ENST00000397910.4	-	3	31163	c.30960T>C	c.(30958-30960)atT>atC	p.I10320I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10322	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						GGCTCTCTGCAATGGTGGACA	0.522																																																	0								ENSG00000181143						105	107	106					19																	9056486		2069	4210	6279	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.30960T>C	19.37:g.9056486A>G		Somatic	0	33	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I10320	ENST00000397910.4	37	c.30960	CCDS54212.1	19																																																																																			-	NULL		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	A	NM_024690	-		9056486	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	G	G	9056486	A	G	9056486	2	3	226	1	0	0	0	0	0	0	0	1	9975	126	5	5		5	MUC16	19	9056486	Silent	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09	6935308	9056486	50072497	54	18265											
MUC16	94025	genome.wustl.edu	37	chr19	9076289	9076289	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacaggggcgtatttgggtcAgtctttgtactagcatgatc	13	7	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:9076289A>T	ENST00000397910.4	-	3	11360	c.11157T>A	c.(11155-11157)acT>acA	p.T3719T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3720	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						TATTTGGGTCAGTCTTTGTAC	0.463																																																	0								ENSG00000181143						126	124	125					19																	9076289		1981	4174	6155	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.11157T>A	19.37:g.9076289A>T		Somatic	0	42	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T3719	ENST00000397910.4	37	c.11157	CCDS54212.1	19																																																																																			-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	A	NM_024690	-		9076289	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.001	T	T	9076289	A	T	9076289	2	4	226	1	0	0	0	0	0	0	0	1	9975	175	7	5		5	MUC16	19	9076289	Silent	SNP	A	TCGA-WK-A8XY-01A-11D-A37C-09	19803	9076289	50052694	55	18266											
TMEM91	641649	genome.wustl.edu	37	chr19	41884369	41884369	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgcagttcctgtcacCgcctcttccctccgtgagcg	11	15	2	1	rs376478364		TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:41884369C>G	ENST00000392002.2	+	2	815	c.155C>G	c.(154-156)cCg>cGg	p.P52R	TMEM91_ENST00000413014.2_Missense_Mutation_p.P52R|BCKDHA_ENST00000595085.1_Missense_Mutation_p.P52R|TMEM91_ENST00000356385.4_Missense_Mutation_p.P52R|TMEM91_ENST00000544232.1_Missense_Mutation_p.P52R|TMEM91_ENST00000604123.1_Missense_Mutation_p.P109R|TMEM91_ENST00000539627.1_Missense_Mutation_p.P52R|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.P52R|TMEM91_ENST00000436170.2_Missense_Mutation_p.P52R|TMEM91_ENST00000447302.2_Missense_Mutation_p.P52R|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000542945.1_Missense_Mutation_p.P52R	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	52					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCCTGTCACCGCCTCTTCCC	0.632																																																	0								ENSG00000248098						59	62	61					19																	41884369		1907	4122	6029	BCKDHA	SO:0001583	missense	0			-	HGNC	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.155C>G	19.37:g.41884369C>G	ENSP00000375859:p.Pro52Arg	Somatic	0	33	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	28	45.10	C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP							pfam_DH_E1,pfam_Transketolase_N	p.P52R	ENST00000392002.2	37	c.155	CCDS42571.1	19	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022439	0.35701	.	.	ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000255730	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385;ENST00000546050;ENST00000540732	D;D	0.99470	-4.68;-5.96	4.44	2.32	0.28847	.	0.426837	0.24671	N	0.036547	D	0.97867	0.9299	L	0.27053	0.805	0.24101	N	0.995875	P;P;P;D;P;P;D	0.57571	0.938;0.938;0.938;0.966;0.57;0.662;0.98	P;P;P;P;B;B;P	0.54590	0.478;0.478;0.478;0.652;0.328;0.422;0.756	D	0.94955	0.8103	10	0.17369	T	0.5	.	6.16	0.20358	0.0:0.7761:0.0:0.2239	.	52;52;52;52;52;52;52	C9J9D1;C9JZ62;C9K046;Q6P434;F5H5P2;Q6ZNR0;F5GWC9	.;.;.;.;.;TMM91_HUMAN;.	R	52;52;52;52;52;52;52;52;52;52;38;52	ENSP00000375859:P52R;ENSP00000443246:P52R	ENSP00000443246:P52R	P	+	2	0	CTC-435M10.3;TMEM91	46576209	0.111000	0.22076	0.876000	0.34364	0.276000	0.26787	0.187000	0.16998	1.238000	0.43771	0.561000	0.74099	CCG	-	NULL		0.632	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	protein_coding	OTTHUMT00000398302.2	C		-		41884369	1	no_errors	ENST00000595085	ensembl	human	known	74_37	missense	SNP	0.644	G	G	41884369	C	G	41884369	3	3	226	1	0	0	0	0	1	0	0	0	16227	652	23	4	157	4	TMEM91	19	41884369	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	32808080	41884369	17244614	56	18267											
ZNF574	64763	genome.wustl.edu	37	chr19	42584298	42584298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtctcacgtgcgtaaccacCtgcgcacacacacaggggag	11	14	1	0			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:42584298C>G	ENST00000600245.1	+	2	2195	c.1540C>G	c.(1540-1542)Ctg>Gtg	p.L514V	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.L514V|ZNF574_ENST00000222339.7_Missense_Mutation_p.L604V			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	514					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(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCGTAACCACCTGCGCACACA	0.607																																																	0								ENSG00000105732						175	194	188					19																	42584298		2203	4300	6503	ZNF574	SO:0001583	missense	0			-	HGNC	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1540C>G	19.37:g.42584298C>G	ENSP00000469029:p.Leu514Val	Somatic	0	34	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	20	55.32	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L604V	ENST00000600245.1	37	c.1810	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	C	8.728	0.915885	0.17907	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.08634	3.07;3.07	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.156521	0.40728	N	0.001022	T	0.11580	0.0282	L	0.41824	1.3	0.31999	N	0.603625	P;P	0.47191	0.652;0.891	B;P	0.47299	0.424;0.543	T	0.02333	-1.1175	10	0.59425	D	0.04	-9.6074	12.2589	0.54638	0.1702:0.8298:0.0:0.0	.	514;603	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	V	604;514;121	ENSP00000222339:L604V;ENSP00000351939:L514V	ENSP00000222339:L604V	L	+	1	2	ZNF574	47276138	0.704000	0.27836	1.000000	0.80357	0.030000	0.12068	0.928000	0.28831	2.340000	0.79590	0.650000	0.86243	CTG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	protein_coding	OTTHUMT00000463458.1	C	NM_022752	-		42584298	1	no_errors	ENST00000222339	ensembl	human	known	74_37	missense	SNP	1.000	G	G	42584298	C	G	42584298	3	3	226	1	0	0	0	0	1	0	0	0	18013	680	24	4	1542	4	ZNF574	19	42584298	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	699929	42584298	16544685	57	18268											
PSG9	5678	genome.wustl.edu	37	chr19	43763053	43763053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgcggaggccaccatatCggtcccgtatttcacattga	9	12	1	1	rs147249563	byFrequency	TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:43763053C>T	ENST00000270077.3	-	4	1040	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.R222Q|PSG9_ENST00000418820.2_Missense_Mutation_p.R222Q|PSG9_ENST00000593948.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	315	Ig-like C2-type 2.				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)				GCCACCATATCGGTCCCGTAT	0.493																																																	0								ENSG00000183668	C	GLN/ARG	0,4276		0,0,2138	113	116	115		944	0.1	0	19	dbSNP_134	115	6,8560		0,6,4277	no	missense	PSG9	NM_002784.3	43	0,6,6415	TT,TC,CC		0.07,0.0,0.0467	benign	315/427	43763053	6,12836	2138	4283	6421	PSG9	SO:0001583	missense	0			-	HGNC	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.944G>A	19.37:g.43763053C>T	ENSP00000270077:p.Arg315Gln	Somatic	0	145	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	84	52.27	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R315Q	ENST00000270077.3	37	c.944	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	8.758	0.922806	0.18056	0.0	7.0E-4	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.12039	2.72;2.72	1.39	0.099	0.14501	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B;B	0.19583	0.037;0.027	B;B	0.19391	0.013;0.025	T	0.39143	-0.9628	9	0.30854	T	0.27	.	5.2805	0.15673	0.0:0.3826:0.6174:0.0	.	222;315	E7EW65;Q00887	.;PSG9_HUMAN	Q	315;222;276	ENSP00000270077:R315Q;ENSP00000396753:R222Q	ENSP00000270077:R315Q	R	-	2	0	PSG9	48454893	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	0.346000	0.19997	-0.114000	0.11936	0.194000	0.17425	CGA	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	protein_coding	OTTHUMT00000323065.1	C	NM_002784	rs147249563		43763053	-1	no_errors	ENST00000270077	ensembl	human	known	74_37	missense	SNP	0.002	T	T	43763053	C	T	43763053	3	4	226	1	0	0	0	0	1	0	0	0	12667	884	31	1	348	1	PSG9	19	43763053	Missense_Mutation	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09	1178755	43763053	15365930	58	18269											
AP2A1	160	genome.wustl.edu	37	chr19	50303321	50303321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgcattgcgggcgactacGtgagtgaggaggtgtggtac	17	8	0	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr19:50303321G>C	ENST00000359032.5	+	11	1369	c.1369G>C	c.(1369-1371)Gtg>Ctg	p.V457L	AP2A1_ENST00000354293.5_Missense_Mutation_p.V457L	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GGGCGACTACGTGAGTGAGGA	0.592																																																	0								ENSG00000196961						89	100	97					19																	50303321		2159	4240	6399	AP2A1	SO:0001583	missense	0			-	HGNC	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1369G>C	19.37:g.50303321G>C	ENSP00000351926:p.Val457Leu	Somatic	0	27	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP							pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.V457L	ENST00000359032.5	37	c.1369	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714760	0.68730	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.49139	0.79;0.79	4.65	4.65	0.58169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.84773	2.715	0.80722	D	1	D;D	0.69078	0.997;0.97	D;P	0.68192	0.956;0.879	T	0.77459	-0.2580	10	0.87932	D	0	.	16.4522	0.83994	0.0:0.0:1.0:0.0	.	457;457	O95782-2;O95782	.;AP2A1_HUMAN	L	457	ENSP00000346246:V457L;ENSP00000351926:V457L	ENSP00000346246:V457L	V	+	1	0	AP2A1	54995133	1.000000	0.71417	0.978000	0.43139	0.101000	0.19017	9.575000	0.98187	2.400000	0.81607	0.462000	0.41574	GTG	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu		0.592	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	protein_coding	OTTHUMT00000465809.1	G		-		50303321	1	no_errors	ENST00000354293	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50303321	G	C	50303321	3	2	226	1	0	0	0	0	1	0	0	0	739	1145	40	4	1411	4	AP2A1	19	50303321	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	6540268	50303321	8825662	59	18270											
SNX5	27131	genome.wustl.edu	37	chr20	17928213	17928213	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgacgtctttgctcTttaaccgggccttatccaga	7	13	2	2			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr20:17928213T>A	ENST00000377768.3	-	12	1307	c.995A>T	c.(994-996)aAg>aTg	p.K332M	SNX5_ENST00000377759.4_Missense_Mutation_p.K332M|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	332	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GTCTTTGCTCTTTAACCGGGC	0.443																																																	0								ENSG00000089006						107	97	100					20																	17928213		2203	4300	6503	SNX5	SO:0001583	missense	0			-	HGNC	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"Sorting nexins"	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.995A>T	20.37:g.17928213T>A	ENSP00000366998:p.Lys332Met	Somatic	0	44	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP							pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.K332M	ENST00000377768.3	37	c.995	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822358	0.90873	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.70399	-0.48;-0.48	5.31	5.31	0.75309	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.984	D	0.87177	0.2225	10	0.66056	D	0.02	-18.5893	15.5684	0.76313	0.0:0.0:0.0:1.0	.	353;332	B7Z476;Q9Y5X3	.;SNX5_HUMAN	M	332	ENSP00000366998:K332M;ENSP00000366988:K332M	ENSP00000366988:K332M	K	-	2	0	SNX5	17876213	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.036000	0.88901	2.110000	0.64415	0.528000	0.53228	AAG	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.443	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	protein_coding	OTTHUMT00000078137.4	T		-		17928213	-1	no_errors	ENST00000377759	ensembl	human	known	74_37	missense	SNP	1.000	A	A	17928213	T	A	17928213	3	1	226	1	0	0	0	0	1	0	0	0	14913	1609	56	5	231	5	SNX5	20	17928213	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09		17928213	45097307	60	18271											
AIRE	326	genome.wustl.edu	37	chr21	45710887	45710887	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaggtacccagagatgCtgctgggggagctgttttgg	16	7	1	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chr21:45710887C>T	ENST00000291582.5	+	8	1006				AIRE_ENST00000329347.4_Silent_p.C66C|AIRE_ENST00000355347.4_Silent_p.C66C	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCCAGAGATGCTGCTGGGGGA	0.612									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0								ENSG00000160224						115	128	124					21																	45710887		2203	4300	6503	AIRE	SO:0001627	intron_variant	0	Familial Cancer Database	APECED	-	HGNC	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.880-91C>T	21.37:g.45710887C>T		Somatic	0	55	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	B2RP50|O43922|O43932|O75745	Silent	SNP							pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C66	ENST00000291582.5	37	c.198	CCDS13706.1	21																																																																																			-	NULL		0.612	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	protein_coding	OTTHUMT00000195842.2	C		-		45710887	1	no_errors	ENST00000355347	ensembl	human	known	74_37	silent	SNP	0.000	T	T	45710887	C	T	45710887	1	4	226	0	1	0	0	0	0	0	0	0	437	805	28	2		2	AIRE	21	45710887	Intron	SNP	C	TCGA-WK-A8XY-01A-11D-A37C-09		45710887	2419008	61	18272											
PTCHD1	139411	genome.wustl.edu	37	chrX	23410954	23410954	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caattaccagcatagtatctTctgtagaaaagtcccaaagc	6	10	2	1			TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chrX:23410954T>A	ENST00000379361.4	+	3	2179	c.1319T>A	c.(1318-1320)tTc>tAc	p.F440Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	440					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CATAGTATCTTCTGTAGAAAA	0.463																																																	0								ENSG00000165186						79	81	80					X																	23410954		2203	4300	6503	PTCHD1	SO:0001583	missense	0			-	HGNC	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1319T>A	X.37:g.23410954T>A	ENSP00000368666:p.Phe440Tyr	Somatic	0	21	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	16	55.56	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.F440Y	ENST00000379361.4	37	c.1319	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690507	0.48097	.	.	ENSG00000165186	ENST00000379361	D	0.86230	-2.09	5.82	3.36	0.38483	.	0.103352	0.64402	D	0.000002	D	0.86422	0.5929	L	0.52573	1.65	0.42608	D	0.993304	P	0.38167	0.621	P	0.48304	0.573	T	0.82615	-0.0370	10	0.51188	T	0.08	.	7.8567	0.29487	0.0:0.0722:0.1363:0.7915	.	440	Q96NR3	PTHD1_HUMAN	Y	440	ENSP00000368666:F440Y	ENSP00000368666:F440Y	F	+	2	0	PTCHD1	23320875	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.836000	0.62789	0.279000	0.22186	0.486000	0.48141	TTC	-	pfam_Patched		0.463	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	protein_coding	OTTHUMT00000056047.2	T	NM_173495	-		23410954	1	no_errors	ENST00000379361	ensembl	human	known	74_37	missense	SNP	1.000	A	A	23410954	T	A	23410954	3	1	226	1	0	0	0	0	1	0	0	0	12737	1783	62	5	1329	5	PTCHD1	23	23410954	Missense_Mutation	SNP	T	TCGA-WK-A8XY-01A-11D-A37C-09		23410954	131859606	62	18273											
ODZ1	10178	genome.wustl.edu	37	chrX	123514712	123514712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaatatctgcaaaccGtctagtcctcccattcaaca	6	13	3	1	rs143244046		TCGA-WK-A8XY-01A-11D-A37C-09	TCGA-WK-A8XY-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec1ddc84-64c1-4852-a98e-5a8406e0df9a	d9bcdaa1-d682-4750-a6d0-14155e7e1ac5	g.chrX:123514712G>A	ENST00000371130.3	-	31	7915	c.7852C>T	c.(7852-7854)Cgg>Tgg	p.R2618W	TENM1_ENST00000422452.2_Missense_Mutation_p.R2625W|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2618					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTGCAAACCGTCTAGTCCTC	0.517																																																	0								ENSG00000009694	G	TRP/ARG,TRP/ARG,TRP/ARG	0,3835		0,0,1632,571	104	82	89		7873,7870,7852	4.9	1	X	dbSNP_134	89	2,6726		0,2,2426,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	101,101,101	0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging	2625/2733,2624/2732,2618/2726	123514712	2,10561	2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7852C>T	X.37:g.123514712G>A	ENSP00000360171:p.Arg2618Trp	Somatic	0	54	0		0.743338723959985				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2RTR5|Q5JZ17	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R2625W	ENST00000371130.3	37	c.7873	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265318	0.59431	0.0	2.97E-4	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87029	-2.2;-2.16	5.82	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.998;0.999	D	0.93072	0.6483	10	0.87932	D	0	.	13.1981	0.59752	0.0:0.0:0.7109:0.2891	.	2624;2625;2618	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	2618;2625	ENSP00000360171:R2618W;ENSP00000403954:R2625W	ENSP00000360171:R2618W	R	-	1	2	ODZ1	123342393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.529000	0.67135	1.200000	0.43188	0.594000	0.82650	CGG	-	NULL		0.517	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	G	NM_014253	rs143244046		123514712	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	A	A	123514712	G	A	123514712	3	1	226	1	0	0	0	0	1	0	0	0	10836	1144	40	1	329	1	ODZ1	23	123514712	Missense_Mutation	SNP	G	TCGA-WK-A8XY-01A-11D-A37C-09	100103758	123514712	31755848	63	18274											
EXOSC10	5394	genome.wustl.edu	37	chr1	11140854	11140854	+	Frame_Shift_Del	DEL	T	T	-													cttccctgcgagctgttttaTccctccaggcaaacagcagc							TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:11140854delT	ENST00000376936.4	-	12	1602	c.1553delA	c.(1552-1554)gatfs	p.D518fs	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.D518fs|EXOSC10_ENST00000544779.1_Frame_Shift_Del_p.D518fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	518	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGCTGTTTTATCCCTCCAGGC	0.423																																					Colon(179;105 1987 14326 27364 29542)												0								ENSG00000171824						123	131	128					1																	11140854		2203	4300	6503	EXOSC10	SO:0001589	frameshift_variant	0				HGNC	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1553delA	1.37:g.11140854delT	ENSP00000366135:p.Asp518fs	Somatic	0	49	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Del	DEL							pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom	p.D518fs	ENST00000376936.4	37	c.1553	CCDS30584.1	1																																																																																			-	pfam_HRDC_dom,superfamily_HRDC-like,smart_HRDC_dom,pfscan_HRDC_dom		0.423	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	protein_coding	OTTHUMT00000006078.1	T	NM_001001998			11140854	-1	no_errors	ENST00000376936	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	11140854	T	-	11140854	7	5	227	1	0	1	0	1	0	0	0	0	5316	1435	50	0	1160	0	EXOSC10	1	11140854	Frame_Shift_Del	DEL	T	TCGA-WK-A8XZ-01A-11D-A37C-09		11140854	238109767	1	18275											
NIPAL3	57185	genome.wustl.edu	37	chr1	24779930	24779930	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctgttctgcttgctgctCtacttctacaaggagaagaa	8	9	4	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:24779930C>T	ENST00000374399.4	+	7	941	c.573C>T	c.(571-573)ctC>ctT	p.L191L	NIPAL3_ENST00000003912.3_Silent_p.L109L|NIPAL3_ENST00000358028.4_Silent_p.L191L|NIPAL3_ENST00000339255.2_Silent_p.L191L|NIPAL3_ENST00000428131.1_Silent_p.L191L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	191						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GCTTGCTGCTCTACTTCTACA	0.522																																																	0								ENSG00000001461						148	119	129					1																	24779930		2203	4300	6503	NIPAL3	SO:0001819	synonymous_variant	0			-	HGNC	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.573C>T	1.37:g.24779930C>T		Somatic	0	34	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	A2A298|Q6MZT9|Q9BVE6	Silent	SNP							pfam_Mg_trans_NIPA	p.L191	ENST00000374399.4	37	c.573	CCDS30631.1	1																																																																																			-	pfam_Mg_trans_NIPA		0.522	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	protein_coding	OTTHUMT00000276996.1	C	NM_020448	-		24779930	1	no_errors	ENST00000374399	ensembl	human	known	74_37	silent	SNP	0.970	T	T	24779930	C	T	24779930	2	4	227	1	0	0	0	0	0	0	0	1	10428	900	32	2		2	NIPAL3	1	24779930	Silent	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	13639076	24779930	224470691	2	18276											
MACF1	23499	genome.wustl.edu	37	chr1	39888445	39888445	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagctttgttgcattGtgggaagtttcaagatgcct	12	6	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:39888445G>C	ENST00000372915.3	+	59	16124	c.16037G>C	c.(16036-16038)tGt>tCt	p.C5346S	MACF1_ENST00000545844.1_Missense_Mutation_p.C3279S|MACF1_ENST00000289893.4_Missense_Mutation_p.C3781S|MACF1_ENST00000317713.7_Missense_Mutation_p.C3279S|MACF1_ENST00000539005.1_Missense_Mutation_p.C3258S|MACF1_ENST00000361689.2_Missense_Mutation_p.C3279S|MACF1_ENST00000567887.1_Missense_Mutation_p.C5378S|MACF1_ENST00000564288.1_Missense_Mutation_p.C5341S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5346					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGTTGCATTGTGGGAAGTTT	0.438																																																	0								ENSG00000127603						137	127	130					1																	39888445		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16037G>C	1.37:g.39888445G>C	ENSP00000362006:p.Cys5346Ser	Somatic	0	47	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.C3279S	ENST00000372915.3	37	c.9836		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.729087|4.729087	0.89390|0.89390	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42;1.42;1.42;1.42|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.57417|0.57417	0.2052|0.2052	N|N	0.25201|0.25201	0.72|0.72	0.80722|0.80722	D|D	1|1	D;D;P|.	0.67145|.	0.996;0.984;0.708|.	D;P;B|.	0.76575|.	0.988;0.835;0.395|.	T|T	0.49123|0.49123	-0.8972|-0.8972	10|5	0.22109|.	T|.	0.4|.	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5346;3279;3223|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	S|F	3279;5346;3279;3279;3258;3781;95|2391	ENSP00000439537:C3279S;ENSP00000362006:C5346S;ENSP00000354573:C3279S;ENSP00000313438:C3279S;ENSP00000444364:C3258S;ENSP00000289893:C3781S;ENSP00000433104:C95S|.	ENSP00000289893:C3781S|.	C|L	+|+	2|3	0|2	MACF1|MACF1	39661032|39661032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	TGT|TTG	-	NULL		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	G	NM_033044	-		39888445	1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39888445	G	C	39888445	3	2	227	1	0	0	0	0	1	0	0	0	9146	1377	48	4	16205	4	MACF1	1	39888445	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	15108515	39888445	209362176	3	18277											
PGLYRP3	114771	genome.wustl.edu	37	chr1	153283134	153283134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaagaagccatggcagcGtccccatgtggtcccaggac	13	13	0	1	rs79228057	byFrequency	TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:153283134G>A	ENST00000290722.1	-	1	60	c.8C>T	c.(7-9)aCg>aTg	p.T3M		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	3					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCATGGCAGCGTCCCCATGTG	0.522													G|||	4	0.000798722	0	0	5008	,	,		19577	0.001		0	False		,,,				2504	0.0031																0								ENSG00000159527	G	MET/THR	0,4406		0,0,2203	153	151	152		8	2.1	0.1	1	dbSNP_131	152	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PGLYRP3	NM_052891.1	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	3/342	153283134	2,13004	2203	4300	6503	PGLYRP3	SO:0001583	missense	0			GMAF=0.0005	HGNC	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.8C>T	1.37:g.153283134G>A	ENSP00000290722:p.Thr3Met	Somatic	0	33	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	18	43.75	A1A4U8|Q5SY65	Missense_Mutation	SNP							pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.T3M	ENST00000290722.1	37	c.8	CCDS1035.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.271	-0.992979	0.02162	0.0	2.33E-4	ENSG00000159527	ENST00000290722	T	0.07327	3.2	3.22	2.09	0.27110	.	0.141721	0.33075	N	0.005313	T	0.00552	0.0018	N	0.00217	-1.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48670	-0.9015	10	0.40728	T	0.16	.	5.4417	0.16513	0.8689:0.0:0.1311:0.0	.	3	Q96LB9	PGRP3_HUMAN	M	3	ENSP00000290722:T3M	ENSP00000290722:T3M	T	-	2	0	PGLYRP3	151549758	0.824000	0.29247	0.085000	0.20634	0.001000	0.01503	1.975000	0.40569	0.592000	0.29728	-0.294000	0.09567	ACG	-	NULL		0.522	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	protein_coding	OTTHUMT00000039488.1	G	NM_052891	rs79228057		153283134	-1	no_errors	ENST00000290722	ensembl	human	known	74_37	missense	SNP	0.128	A	A	153283134	G	A	153283134	3	1	227	1	0	0	0	0	1	0	0	0	11797	1145	40	1	1045	1	PGLYRP3	1	153283134	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	113394689	153283134	95967487	4	18278											
ASH1L	55870	genome.wustl.edu	37	chr1	155448260	155448260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctcaggaggaacactGgggtaggtactcatggaaag	14	8	2	0			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:155448260G>A	ENST00000368346.3	-	3	5040	c.4401C>T	c.(4399-4401)ccC>ccT	p.P1467P	ASH1L_ENST00000392403.3_Silent_p.P1467P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1467					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAGGAACACTGGGGTAGGTAC	0.488																																																	0								ENSG00000116539						136	129	132					1																	155448260		2203	4300	6503	ASH1L	SO:0001819	synonymous_variant	0			-	HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4401C>T	1.37:g.155448260G>A		Somatic	0	60	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	42	28.33	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP							pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.P1467	ENST00000368346.3	37	c.4401		1																																																																																			-	NULL		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	G	NM_018489	-		155448260	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	silent	SNP	0.994	A	A	155448260	G	A	155448260	2	1	227	1	0	0	0	0	0	0	0	1	1041	1335	47	2		2	ASH1L	1	155448260	Silent	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	2165126	155448260	93802361	5	18279											
PPP1R15B	84919	genome.wustl.edu	37	chr1	204378836	204378836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagccttaaaatttaaAgggttgtaggggtcatcaga	12	4	2	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:204378836A>G	ENST00000367188.4	-	1	2083	c.1704T>C	c.(1702-1704)ccT>ccC	p.P568P	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	568					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TAAAATTTAAAGGGTTGTAGG	0.443																																																	0								ENSG00000158615						66	66	66					1																	204378836		2203	4300	6503	PPP1R15B	SO:0001819	synonymous_variant	0			-	HGNC	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1704T>C	1.37:g.204378836A>G		Somatic	0	35	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP							pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.P568	ENST00000367188.4	37	c.1704	CCDS1445.1	1																																																																																			-	pfam_Prot_Pase1_reg-su15A/B_C		0.443	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	protein_coding	OTTHUMT00000087974.1	A	NM_032833	-		204378836	-1	no_errors	ENST00000367188	ensembl	human	known	74_37	silent	SNP	0.978	G	G	204378836	A	G	204378836	2	3	227	1	0	0	0	0	0	0	0	1	12369	59	3	5		5	PPP1R15B	1	204378836	Silent	SNP	A	TCGA-WK-A8XZ-01A-11D-A37C-09	48930576	204378836	44871785	6	18280											
CENPF	1063	genome.wustl.edu	37	chr1	214814122	214814122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagagaggagtgaatGtcgtttagaagcagaccaaa	12	7	1	4			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:214814122G>T	ENST00000366955.3	+	12	2609	c.2441G>T	c.(2440-2442)tGt>tTt	p.C814F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					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)		AGGAGTGAATGTCGTTTAGAA	0.393																																					Colon(80;575 1284 11000 14801 43496)												0								ENSG00000117724						51	53	53					1																	214814122		2201	4299	6500	CENPF	SO:0001583	missense	0			-	HGNC	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.2441G>T	1.37:g.214814122G>T	ENSP00000355922:p.Cys814Phe	Somatic	0	33	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP							pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.C814F	ENST00000366955.3	37	c.2441	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	2.694	-0.272476	0.05716	.	.	ENSG00000117724	ENST00000366955	T	0.03212	4.01	5.59	3.49	0.39957	.	0.179588	0.27402	N	0.019527	T	0.02610	0.0079	.	.	.	0.09310	N	1	P	0.45126	0.851	B	0.34873	0.191	T	0.48127	-0.9062	9	0.42905	T	0.14	.	7.9225	0.29854	0.0945:0.0:0.7164:0.189	.	814	P49454	CENPF_HUMAN	F	814	ENSP00000355922:C814F	ENSP00000355922:C814F	C	+	2	0	CENPF	212880745	0.003000	0.15002	0.030000	0.17652	0.254000	0.26022	0.790000	0.26900	1.297000	0.44761	0.609000	0.83330	TGT	-	NULL		0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	G	NM_016343	-		214814122	1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	SNP	0.001	T	T	214814122	G	T	214814122	3	4	227	1	0	0	0	0	1	0	0	0	3233	1377	48	3	2483	3	CENPF	1	214814122	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	10435286	214814122	34436499	7	18281											
OR2T12	127064	genome.wustl.edu	37	chr1	248458735	248458735	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtggagccggtggtccCagtgaatcaggagaatcatg	15	9	2	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr1:248458735C>T	ENST00000317996.1	-	1	145	c.146G>A	c.(145-147)tGg>tAg	p.W49*		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CCGGTGGTCCCAGTGAATCAG	0.537																																																	0								ENSG00000177201						97	79	85					1																	248458735		2203	4300	6503	OR2T12	SO:0001587	stop_gained	0			-	HGNC	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.146G>A	1.37:g.248458735C>T	ENSP00000324583:p.Trp49*	Somatic	0	37	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	30.19		Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W49*	ENST00000317996.1	37	c.146	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.464874	0.26335	.	.	ENSG00000177201	ENST00000317996	.	.	.	1.55	-3.09	0.05331	.	3.014640	0.01683	U	0.026254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	5.5529	0.17101	0.3578:0.5063:0.1359:0.0	.	.	.	.	X	49	.	ENSP00000324583:W49X	W	-	2	0	OR2T12	246525358	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-2.290000	0.01148	-0.564000	0.06070	0.175000	0.17021	TGG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	protein_coding	OTTHUMT00000097353.1	C	NM_001004692	-		248458735	-1	no_errors	ENST00000317996	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	248458735	C	T	248458735	4	4	227	1	0	0	0	0	0	1	0	0	11021	595	21	2	819	2	OR2T12	1	248458735	Nonsense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	33644613	248458735	791886	8	18282											
LRP2	4036	genome.wustl.edu	37	chr2	170003437	170003437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcagactcgattttaGgttcctttccccagtcagtc	8	13	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr2:170003437G>T	ENST00000263816.3	-	69	12908	c.12623C>A	c.(12622-12624)cCt>cAt	p.P4208H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4208					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CTCGATTTTAGGTTCCTTTCC	0.463																																																	0								ENSG00000081479						75	57	63					2																	170003437		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12623C>A	2.37:g.170003437G>T	ENSP00000263816:p.Pro4208His	Somatic	0	65	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	44	21.43	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P4208H	ENST00000263816.3	37	c.12623	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922246	0.92319	.	.	ENSG00000081479	ENST00000263816	D	0.96685	-4.09	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.102069	0.64402	D	0.000002	D	0.98741	0.9577	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.99391	1.0925	10	0.87932	D	0	.	19.7612	0.96319	0.0:0.0:1.0:0.0	.	4208	P98164	LRP2_HUMAN	H	4208	ENSP00000263816:P4208H	ENSP00000263816:P4208H	P	-	2	0	LRP2	169711683	1.000000	0.71417	0.622000	0.29159	0.964000	0.63967	9.869000	0.99810	2.670000	0.90874	0.655000	0.94253	CCT	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	G	NM_004525	-		170003437	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170003437	G	T	170003437	3	4	227	1	0	0	0	0	1	0	0	0	8958	1000	35	3	1388	3	LRP2	2	170003437	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		170003437	73195936	9	18283											
FSIP2	401024	genome.wustl.edu	37	chr2	186627948	186627948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggttcaattatttcaGcgcaggtatcacccacgaga	9	11	3	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr2:186627948G>T	ENST00000424728.1	+	12	1279	c.1279G>T	c.(1279-1281)Gcg>Tcg	p.A427S	FSIP2_ENST00000546113.1_3'UTR|FSIP2_ENST00000343098.5_Missense_Mutation_p.A516S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	427										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTATTTCAGCGCAGGTATC	0.358																																																	0								ENSG00000188738																																			FSIP2	SO:0001583	missense	0			-	HGNC	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.1279G>T	2.37:g.186627948G>T	ENSP00000401306:p.Ala427Ser	Somatic	0	38	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP							NULL	p.A516S	ENST00000424728.1	37	c.1546		2	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003542	0.19121	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.48836	0.8;0.81	3.41	-2.08	0.07254	.	0.669483	0.12385	N	0.473534	T	0.25306	0.0615	N	0.24115	0.695	0.09310	N	1	P	0.42908	0.793	B	0.37780	0.258	T	0.19224	-1.0312	10	0.23891	T	0.37	.	5.9093	0.19018	0.1923:0.4713:0.3363:0.0	.	427	Q5CZC0	FSIP2_HUMAN	S	516;427;427	ENSP00000344403:A516S;ENSP00000401306:A427S	ENSP00000321903:A427S	A	+	1	0	FSIP2	186336193	0.001000	0.12720	0.011000	0.14972	0.010000	0.07245	-1.567000	0.02146	-0.475000	0.06852	-0.291000	0.09656	GCG	-	NULL		0.358	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	G	NM_173651	-		186627948	1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	SNP	0.016	T	T	186627948	G	T	186627948	3	4	227	1	0	0	0	0	1	0	0	0	6077	971	34	3	1592	3	FSIP2	2	186627948	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	16624511	186627948	56571425	10	18284											
SLC6A6	6533	genome.wustl.edu	37	chr3	14487301	14487301	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggagatcatcataggCcagtacacctctgaaggggg	12	9	4	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr3:14487301C>G	ENST00000454876.2	+	4	635	c.306C>G	c.(304-306)ggC>ggG	p.G102G	SLC6A6_ENST00000416216.2_Silent_p.G102G|SLC6A6_ENST00000360861.3_Silent_p.G102G|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	102					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCATAGGCCAGTACACCT	0.517																																																	0								ENSG00000131389						148	134	139					3																	14487301		2203	4300	6503	SLC6A6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.306C>G	3.37:g.14487301C>G		Somatic	0	58	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	46	54.00	B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.G102	ENST00000454876.2	37	c.306	CCDS33705.1	3																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	protein_coding	OTTHUMT00000340507.1	C	NM_003043	-		14487301	1	no_errors	ENST00000360861	ensembl	human	known	74_37	silent	SNP	1.000	G	G	14487301	C	G	14487301	2	3	227	1	0	0	0	0	0	0	0	1	14696	726	26	4		4	SLC6A6	3	14487301	Silent	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		14487301	183535129	11	18285											
NMD3	51068	genome.wustl.edu	37	chr3	160945124	160945124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaatcaaagcccctcTgagtaaggtaagttaaacag	8	7	2	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr3:160945124T>C	ENST00000460469.1	+	3	724	c.269T>C	c.(268-270)cTg>cCg	p.L90P	NMD3_ENST00000472947.1_Missense_Mutation_p.L90P|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.L90P			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	90					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AAAGCCCCTCTGAGTAAGGTA	0.348																																																	0								ENSG00000169251						90	87	88					3																	160945124		2203	4300	6503	NMD3	SO:0001583	missense	0			-	HGNC	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.269T>C	3.37:g.160945124T>C	ENSP00000419004:p.Leu90Pro	Somatic	0	54	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	21	50.00	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP							pfam_NMD3	p.L90P	ENST00000460469.1	37	c.269	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171626	0.78452	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.55413	0.64;0.68;0.66;0.54;0.52;0.66;0.67;0.54	5.54	5.54	0.83059	.	0.054983	0.64402	D	0.000001	T	0.81153	0.4763	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.975	D	0.87258	0.2277	10	0.87932	D	0	-38.0183	14.8418	0.70230	0.0:0.0:0.0:1.0	.	90;90	C9JA08;Q96D46	.;NMD3_HUMAN	P	90	ENSP00000418852:L90P;ENSP00000418980:L90P;ENSP00000419030:L90P;ENSP00000307525:L90P;ENSP00000417559:L90P;ENSP00000418908:L90P;ENSP00000419647:L90P;ENSP00000419004:L90P	ENSP00000307525:L90P	L	+	2	0	NMD3	162427818	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.120000	0.77153	2.096000	0.63516	0.482000	0.46254	CTG	-	pfam_NMD3		0.348	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	protein_coding	OTTHUMT00000353114.1	T	NM_015938	-		160945124	1	no_errors	ENST00000351193	ensembl	human	known	74_37	missense	SNP	1.000	C	C	160945124	T	C	160945124	3	2	227	1	0	0	0	0	1	0	0	0	10490	1580	55	5	279	5	NMD3	3	160945124	Missense_Mutation	SNP	T	TCGA-WK-A8XZ-01A-11D-A37C-09	146457823	160945124	37077306	12	18286											
NCAPG	64151	genome.wustl.edu	37	chr4	17816903	17816903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattatttttaaggttttaGctgaaaaggttcatatgaga	8	2	1	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr4:17816903G>T	ENST00000251496.2	+	5	873	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	233					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)		TAAGGTTTTAGCTGAAAAGGT	0.313																																																	0								ENSG00000109805						48	50	49					4																	17816903		2203	4296	6499	NCAPG	SO:0001583	missense	0			-	HGNC	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.697G>T	4.37:g.17816903G>T	ENSP00000251496:p.Ala233Ser	Somatic	0	67	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.A233S	ENST00000251496.2	37	c.697	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048829	0.55110	.	.	ENSG00000109805	ENST00000251496	T	0.32515	1.45	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.097811	0.64402	D	0.000001	T	0.27765	0.0683	L	0.33668	1.02	0.58432	D	0.999992	B	0.24368	0.102	B	0.29942	0.109	T	0.03202	-1.1061	10	0.27785	T	0.31	-12.5229	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	233	Q9BPX3	CND3_HUMAN	S	233	ENSP00000251496:A233S	ENSP00000251496:A233S	A	+	1	0	NCAPG	17426001	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.979000	0.63806	2.941000	0.99782	0.655000	0.94253	GCT	-	superfamily_ARM-type_fold		0.313	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	protein_coding	OTTHUMT00000250375.1	G	NM_022346	-		17816903	1	no_errors	ENST00000251496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17816903	G	T	17816903	3	4	227	1	0	0	0	0	1	0	0	0	10209	971	34	3	715	3	NCAPG	4	17816903	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		17816903	173337373	13	18287											
GABRA2	2555	genome.wustl.edu	37	chr4	46252509	46252509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggttctggcgtggttGcactcttggagatggtggag	18	5	2	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr4:46252509G>A	ENST00000510861.1	-	10	1345	c.1172C>T	c.(1171-1173)gCa>gTa	p.A391V	GABRA2_ENST00000507069.1_Missense_Mutation_p.A451V|GABRA2_ENST00000356504.1_Missense_Mutation_p.A391V|GABRA2_ENST00000514090.1_Missense_Mutation_p.A391V|GABRA2_ENST00000540012.1_Missense_Mutation_p.A396V|GABRA2_ENST00000381620.4_Missense_Mutation_p.A391V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	391					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGCGTGGTTGCACTCTTGGA	0.438																																																	0								ENSG00000151834						185	185	185					4																	46252509		2203	4299	6502	GABRA2	SO:0001583	missense	0			-	HGNC		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1172C>T	4.37:g.46252509G>A	ENSP00000421828:p.Ala391Val	Somatic	0	60	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A396V	ENST00000510861.1	37	c.1187	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416278	0.42918	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.96	5.11	0.69529	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.304730	0.40728	N	0.001023	T	0.76435	0.3987	L	0.34521	1.04	0.41197	D	0.986349	P;B	0.45957	0.869;0.044	P;B	0.45167	0.472;0.04	T	0.71968	-0.4432	10	0.15066	T	0.55	.	13.6959	0.62580	0.0732:0.0:0.9268:0.0	.	396;391	B7Z1H8;P47869	.;GBRA2_HUMAN	V	391;391;391;391;396;451	ENSP00000421828:A391V;ENSP00000421300:A391V;ENSP00000371033:A391V;ENSP00000348897:A391V;ENSP00000444409:A396V;ENSP00000427603:A451V	ENSP00000348897:A391V	A	-	2	0	GABRA2	45947266	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.289000	0.65656	2.827000	0.97445	0.655000	0.94253	GCA	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel		0.438	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	protein_coding	OTTHUMT00000360848.2	G		-		46252509	-1	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	SNP	0.995	A	A	46252509	G	A	46252509	3	1	227	1	0	0	0	0	1	0	0	0	6163	1319	46	2	187	2	GABRA2	4	46252509	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	28435606	46252509	144901767	14	18288											
EDNRA	1909	genome.wustl.edu	37	chr4	148463682	148463682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtctgatgacctcggtccCcatgaacggaacaagcatcc	9	13	1	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr4:148463682C>T	ENST00000324300.5	+	8	1711	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.P290L|EDNRA_ENST00000358556.4_Missense_Mutation_p.P290L|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.P174L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	399					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ACCTCGGTCCCCATGAACGGA	0.527																																																	0								ENSG00000151617						189	165	173					4																	148463682		2203	4300	6503	EDNRA	SO:0001583	missense	0			-	HGNC	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1196C>T	4.37:g.148463682C>T	ENSP00000315011:p.Pro399Leu	Somatic	0	32	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.P399L	ENST00000324300.5	37	c.1196	CCDS3769.1	4	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944889	0.73672	.	.	ENSG00000151617	ENST00000358556;ENST00000324300;ENST00000511804;ENST00000506066	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.27	5.27	0.74061	.	0.047785	0.85682	D	0.000000	T	0.31389	0.0795	L	0.41824	1.3	0.80722	D	1	P;B	0.45474	0.859;0.044	B;B	0.38458	0.274;0.01	T	0.05162	-1.0902	10	0.25106	T	0.35	-17.9662	18.8855	0.92376	0.0:1.0:0.0:0.0	.	290;399	P25101-4;P25101	.;EDNRA_HUMAN	L	290;399;174;290	ENSP00000351359:P290L;ENSP00000315011:P399L;ENSP00000425354:P174L;ENSP00000425281:P290L	ENSP00000315011:P399L	P	+	2	0	EDNRA	148683132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.571000	0.67404	2.452000	0.82932	0.591000	0.81541	CCC	-	prints_ETA_rcpt		0.527	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	protein_coding	OTTHUMT00000364635.1	C		-		148463682	1	no_errors	ENST00000324300	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148463682	C	T	148463682	3	4	227	1	0	0	0	0	1	0	0	0	4921	623	22	2	1222	2	EDNRA	4	148463682	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	102211173	148463682	42690594	15	18289											
NEK1	4750	genome.wustl.edu	37	chr4	170482982	170482982	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaagagcaaaaaactaCctgatccttttgtttctttt	4	8	1	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr4:170482982C>T	ENST00000439128.2	-	13	1781		c.e13+1		NEK1_ENST00000511633.1_Splice_Site|NEK1_ENST00000512193.1_Splice_Site|NEK1_ENST00000507142.1_Splice_Site|NEK1_ENST00000510533.1_Splice_Site	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1						cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CAAAAAACTACCTGATCCTTT	0.289																																																	0								ENSG00000137601						36	38	37					4																	170482982		1790	4062	5852	NEK1	SO:0001630	splice_region_variant	0			-	HGNC	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1140+1G>A	4.37:g.170482982C>T		Somatic	0	58	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Splice_Site	SNP							-	e12+1	ENST00000439128.2	37	c.1140+1	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699633	0.68501	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.	.	.	5.63	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6574	0.68844	0.0:0.9302:0.0:0.0698	.	.	.	.	.	-1	.	.	.	-	.	.	NEK1	170719557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.586000	0.67503	1.397000	0.46682	0.655000	0.94253	.	-	-		0.289	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	protein_coding	OTTHUMT00000363157.3	C		-	Intron	170482982	-1	no_errors	ENST00000507142	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	170482982	C	T	170482982	5	4	227	1	0	0	0	0	0	0	1	0	10323	521	18	2	2723	2	NEK1	4	170482982	Splice_Site	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	22019300	170482982	20671294	16	18290											
DIAPH1	1729	genome.wustl.edu	37	chr5	140963175	140963175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttagagctctccttctggCtcatgccctagacagaaggc	9	13	3	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr5:140963175C>T	ENST00000398557.4	-	5	550	c.410G>A	c.(409-411)aGc>aAc	p.S137N	DIAPH1_ENST00000520569.1_Missense_Mutation_p.S83N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.S128N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.S128N|DIAPH1_ENST00000253811.6_Missense_Mutation_p.S137N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.S128N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.S137N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.S128N	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	137	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTTCTGGCTCATGCCCTA	0.443																																																	0								ENSG00000131504						97	99	98					5																	140963175		1950	4139	6089	DIAPH1	SO:0001583	missense	0			-	HGNC	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.410G>A	5.37:g.140963175C>T	ENSP00000381565:p.Ser137Asn	Somatic	0	29	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.S137N	ENST00000398557.4	37	c.410	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002889	0.19121	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.72	-1.4	0.08968	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.326831	0.31010	N	0.008436	T	0.81800	0.4899	N	0.20357	0.565	0.29145	N	0.878731	B;B	0.29955	0.263;0.263	B;B	0.37346	0.247;0.247	T	0.70995	-0.4720	10	0.17832	T	0.49	.	10.6335	0.45551	0.0:0.4942:0.0:0.5058	.	128;137	E9PEZ2;O60610	.;DIAP1_HUMAN	N	137;83;128;128;128;137;137;128;83	ENSP00000373706:S137N;ENSP00000429282:S83N;ENSP00000381570:S128N;ENSP00000373709:S128N;ENSP00000381572:S128N;ENSP00000381565:S137N;ENSP00000253811:S137N;ENSP00000428268:S128N;ENSP00000430587:S83N	ENSP00000253811:S137N	S	-	2	0	DIAPH1	140943359	0.979000	0.34478	0.952000	0.39060	0.394000	0.30568	0.193000	0.17116	-0.367000	0.08052	-0.237000	0.12165	AGC	-	pfam_GTPase-bd		0.443	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	protein_coding		C	NM_005219	-		140963175	-1	no_errors	ENST00000253811	ensembl	human	known	74_37	missense	SNP	0.895	T	T	140963175	C	T	140963175	3	4	227	1	0	0	0	0	1	0	0	0	4520	797	28	2	3504	2	DIAPH1	5	140963175	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		140963175	39952085	17	18291											
PANK3	79646	genome.wustl.edu	37	chr5	167984604	167984604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttggcagcccaagaagtGcaccaactgctccaaagtaa	8	11	0	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr5:167984604G>T	ENST00000239231.6	-	7	1401	c.1085C>A	c.(1084-1086)gCa>gAa	p.A362E	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	362					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCCAAGAAGTGCACCAACTGC	0.368																																																	0								ENSG00000120137						128	116	120					5																	167984604		2203	4300	6503	PANK3	SO:0001583	missense	0			-	HGNC	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.1085C>A	5.37:g.167984604G>T	ENSP00000239231:p.Ala362Glu	Somatic	0	46	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP							pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.A362E	ENST00000239231.6	37	c.1085	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.132550	0.94473	.	.	ENSG00000120137	ENST00000239231	D	0.99816	-6.91	5.67	5.67	0.87782	.	0.198787	0.52532	D	0.000065	D	0.99873	0.9940	H	0.94771	3.58	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	D	0.96736	0.9543	10	0.87932	D	0	5.522	18.7577	0.91838	0.0:0.0:1.0:0.0	.	362	Q9H999	PANK3_HUMAN	E	362	ENSP00000239231:A362E	ENSP00000239231:A362E	A	-	2	0	PANK3	167917182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.062000	0.93920	2.668000	0.90789	0.563000	0.77884	GCA	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.368	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	protein_coding	OTTHUMT00000252793.2	G	NM_024594	-		167984604	-1	no_errors	ENST00000239231	ensembl	human	known	74_37	missense	SNP	1.000	T	T	167984604	G	T	167984604	3	4	227	1	0	0	0	0	1	0	0	0	11420	1319	46	3	31	3	PANK3	5	167984604	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	27021429	167984604	12930656	18	18292											
CAGE1	285782	genome.wustl.edu	37	chr6	7365794	7365794	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactcttggcttcatctgaAtcacagtctatgacctgaga	7	10	5	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr6:7365794A>G	ENST00000512086.1	-	8	2221	c.2019T>C	c.(2017-2019)gaT>gaC	p.D673D	CAGE1_ENST00000502583.1_Silent_p.D700D|CAGE1_ENST00000379918.4_Silent_p.D678D|CAGE1_ENST00000338150.4_Silent_p.D700D|CAGE1_ENST00000296742.7_Silent_p.D537D			Q8TC20	CAGE1_HUMAN	cancer antigen 1	673										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTTCATCTGAATCACAGTCTA	0.348																																																	0								ENSG00000164304						122	114	117					6																	7365794		1857	4092	5949	CAGE1	SO:0001819	synonymous_variant	0			-	HGNC	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.2019T>C	6.37:g.7365794A>G		Somatic	0	69	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	23	45.24	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP							NULL	p.D700	ENST00000512086.1	37	c.2100		6																																																																																			-	NULL		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	protein_coding	OTTHUMT00000367136.1	A	NM_175745	-		7365794	-1	no_errors	ENST00000338150	ensembl	human	known	74_37	silent	SNP	0.013	G	G	7365794	A	G	7365794	2	3	227	1	0	0	0	0	0	0	0	1	2574	98	4	5		5	CAGE1	6	7365794	Silent	SNP	A	TCGA-WK-A8XZ-01A-11D-A37C-09		7365794	163749273	19	18293											
ALDH8A1	64577	genome.wustl.edu	37	chr6	135239814	135239814	+	Frame_Shift_Del	DEL	G	G	-													acctcctcttcactatcaaaGgggacgacacacgtcactgg							TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr6:135239814delG	ENST00000265605.2	-	7	1271	c.1203delC	c.(1201-1203)cccfs	p.P401fs	ALDH8A1_ENST00000367845.2_Frame_Shift_Del_p.P347fs|ALDH8A1_ENST00000367847.2_Frame_Shift_Del_p.P351fs	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	401					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACTATCAAAGGGGACGACAC	0.527																																																	0								ENSG00000118514						161	118	132					6																	135239814		2203	4300	6503	ALDH8A1	SO:0001589	frameshift_variant	0				HGNC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1203delC	6.37:g.135239814delG	ENSP00000265605:p.Pro401fs	Somatic	0	35	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Frame_Shift_Del	DEL							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.F402fs	ENST00000265605.2	37	c.1203	CCDS5171.1	6																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.527	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	protein_coding	OTTHUMT00000042334.2	G				135239814	-1	no_errors	ENST00000265605	ensembl	human	known	74_37	frame_shift_del	DEL	0.996	-	-	135239814	G	-	135239814	7	5	227	1	0	1	0	1	0	0	0	0	505	987	35	0	264	0	ALDH8A1	6	135239814	Frame_Shift_Del	DEL	G	TCGA-WK-A8XZ-01A-11D-A37C-09	127874020	135239814	35875253	20	18294											
THAP5	168451	genome.wustl.edu	37	chr7	108204958	108204958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctttttgtgcagataTaaaagaattaactgagggtt	10	3	1	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr7:108204958T>C	ENST00000415914.3	-	3	1018	c.865A>G	c.(865-867)Ata>Gta	p.I289V	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.I247V	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	289					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TGTGCAGATATAAAAGAATTA	0.328																																																	0								ENSG00000177683						91	95	94					7																	108204958		2203	4300	6503	THAP5	SO:0001583	missense	0			-	HGNC	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.865A>G	7.37:g.108204958T>C	ENSP00000400500:p.Ile289Val	Somatic	0	83	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	47	36.49		Missense_Mutation	SNP							pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.I289V	ENST00000415914.3	37	c.865	CCDS47687.1	7	.	.	.	.	.	.	.	.	.	.	T	4.011	-0.000584	0.07819	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96300	-3.97;-2.48	4.45	0.765	0.18470	.	0.965910	0.08423	U	0.947986	D	0.89008	0.6593	N	0.12182	0.205	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.78623	-0.2132	9	.	.	.	.	4.9224	0.13876	0.0:0.2736:0.1667:0.5597	.	289	Q7Z6K1	THAP5_HUMAN	V	289;247	ENSP00000400500:I289V;ENSP00000322440:I247V	.	I	-	1	0	THAP5	107992194	0.017000	0.18338	0.527000	0.27925	0.855000	0.48748	-0.343000	0.07791	0.210000	0.20664	0.528000	0.53228	ATA	-	NULL		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	protein_coding	OTTHUMT00000337777.2	T	NM_182529	-		108204958	-1	no_errors	ENST00000415914	ensembl	human	known	74_37	missense	SNP	0.155	C	C	108204958	T	C	108204958	3	2	227	1	0	0	0	0	1	0	0	0	15854	1406	49	5	326	5	THAP5	7	108204958	Missense_Mutation	SNP	T	TCGA-WK-A8XZ-01A-11D-A37C-09		108204958	50933705	21	18295											
CLU	1191	genome.wustl.edu	37	chr8	27468062	27468062	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggtcagcagcagcccCacaaacagcagcagagtctt	9	15	2	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr8:27468062C>A	ENST00000316403.10	-	2	432	c.27G>T	c.(25-27)gtG>gtT	p.V9V	CLU_ENST00000560366.1_Silent_p.V61V|CLU_ENST00000523500.1_Silent_p.V9V|CLU_ENST00000405140.3_Silent_p.V9V|CLU_ENST00000546343.1_Silent_p.V20V			P10909	CLUS_HUMAN	clusterin	9					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GCAGCAGCCCCACAAACAGCA	0.567																																																	0								ENSG00000120885						116	105	109					8																	27468062		2203	4300	6503	CLU	SO:0001819	synonymous_variant	0			-	HGNC	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.27G>T	8.37:g.27468062C>A		Somatic	0	65	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	41	39.71	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP							pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.V61	ENST00000316403.10	37	c.183	CCDS47832.1	8																																																																																			-	pfam_Clusterin-like		0.567	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLU	protein_coding	OTTHUMT00000219953.3	C	NM_001831	-		27468062	-1	no_errors	ENST00000560366	ensembl	human	known	74_37	silent	SNP	0.999	A	A	27468062	C	A	27468062	2	1	227	1	0	0	0	0	0	0	0	1	3570	581	21	3		3	CLU	8	27468062	Silent	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		27468062	118895960	22	18296											
MTERFD1	51001	genome.wustl.edu	37	chr8	97258655	97258655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgcaacatctgctttactGaaattttttgaatgcagata	7	6	1	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr8:97258655G>T	ENST00000287025.3	-	5	803	c.705C>A	c.(703-705)ttC>ttA	p.F235L	MTERFD1_ENST00000524341.1_Missense_Mutation_p.F45L|MTERFD1_ENST00000522822.1_Missense_Mutation_p.F114L|MTERFD1_ENST00000523821.1_Missense_Mutation_p.F235L	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		235					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CTGCTTTACTGAAATTTTTTG	0.353																																																	0								ENSG00000156469						74	72	73					8																	97258655		2203	4300	6503	MTERFD1	SO:0001583	missense	0			-	HGNC																												ENST00000287025.3:c.705C>A	8.37:g.97258655G>T	ENSP00000287025:p.Phe235Leu	Somatic	0	71	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP							pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.F235L	ENST00000287025.3	37	c.705	CCDS6270.1	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196815	0.79015	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	6.02	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.29488	-1.0010	10	0.17832	T	0.49	-8.2129	9.2183	0.37362	0.2359:0.0:0.7641:0.0	.	235;235	E5RIK9;Q96E29	.;MTER1_HUMAN	L	235;114;45;235	ENSP00000429400:F235L;ENSP00000430138:F114L;ENSP00000429267:F45L;ENSP00000287025:F235L	ENSP00000287025:F235L	F	-	3	2	MTERFD1	97327831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.559000	0.53756	0.891000	0.36235	0.650000	0.86243	TTC	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel		0.353	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD1	protein_coding	OTTHUMT00000379876.1	G		-		97258655	-1	no_errors	ENST00000287025	ensembl	human	known	74_37	missense	SNP	1.000	T	T	97258655	G	T	97258655	3	4	227	1	0	0	0	0	1	0	0	0	9921	1281	45	3	564	3	MTERFD1	8	97258655	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	69790593	97258655	49105367	23	18297											
ZNF623	9831	genome.wustl.edu	37	chr8	144732815	144732815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccatcagaggattcacaCgggagaaaggccctatgagt	12	10	2	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr8:144732815C>T	ENST00000501748.2	+	1	862	c.773C>T	c.(772-774)aCg>aTg	p.T258M	ZNF623_ENST00000458270.2_Missense_Mutation_p.T218M|ZNF623_ENST00000526926.1_Missense_Mutation_p.T218M	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	258					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGATTCACACGGGAGAAAGG	0.468																																																	0								ENSG00000183309						62	62	62					8																	144732815		2203	4300	6503	ZNF623	SO:0001583	missense	0			-	HGNC	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.773C>T	8.37:g.144732815C>T	ENSP00000445979:p.Thr258Met	Somatic	0	25	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T258M	ENST00000501748.2	37	c.773	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526397	0.44969	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.26373	1.74;1.74;1.74	4.25	3.37	0.38596	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48277	0.1491	M	0.73430	2.235	0.30212	N	0.797652	D	0.89917	1.0	D	0.76071	0.987	T	0.48885	-0.8995	9	0.87932	D	0	-17.3833	9.9279	0.41503	0.0:0.8983:0.0:0.1017	.	258	O75123	ZN623_HUMAN	M	218;218;218;258;258	ENSP00000435232:T218M;ENSP00000411139:T218M;ENSP00000445979:T258M	ENSP00000330358:T218M	T	+	2	0	ZNF623	144803958	0.881000	0.30235	0.555000	0.28281	0.412000	0.31113	2.986000	0.49370	1.131000	0.42111	0.655000	0.94253	ACG	-	pfscan_Znf_C2H2		0.468	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	protein_coding	OTTHUMT00000382522.3	C	NM_014789	-		144732815	1	no_errors	ENST00000501748	ensembl	human	known	74_37	missense	SNP	0.982	T	T	144732815	C	T	144732815	3	4	227	1	0	0	0	0	1	0	0	0	18054	536	19	1	775	1	ZNF623	8	144732815	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	47474160	144732815	1631207	24	18298											
PLEC	5339	genome.wustl.edu	37	chr8	144995719	144995719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcggggcccaccacaCcctccttcacagcctcgttg	9	19	1	0			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr8:144995719C>G	ENST00000322810.4	-	32	8850	c.8681G>C	c.(8680-8682)gGt>gCt	p.G2894A	PLEC_ENST00000356346.3_Missense_Mutation_p.G2743A|PLEC_ENST00000527096.1_Missense_Mutation_p.G2780A|PLEC_ENST00000354589.3_Missense_Mutation_p.G2757A|PLEC_ENST00000354958.2_Missense_Mutation_p.G2735A|PLEC_ENST00000357649.2_Missense_Mutation_p.G2761A|PLEC_ENST00000398774.2_Missense_Mutation_p.G2725A|PLEC_ENST00000345136.3_Missense_Mutation_p.G2757A|PLEC_ENST00000436759.2_Missense_Mutation_p.G2784A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2894	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						GCCCACCACACCCTCCTTCAC	0.672																																																	0								ENSG00000178209						31	40	37					8																	144995719		2083	4192	6275	PLEC	SO:0001583	missense	0			-	HGNC	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.8681G>C	8.37:g.144995719C>G	ENSP00000323856:p.Gly2894Ala	Somatic	0	47	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP							pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.G2894A	ENST00000322810.4	37	c.8681	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	4.608	0.112999	0.08831	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.44	4.44	0.53790	.	0.183823	0.32488	U	0.006034	D	0.87791	0.6266	H	0.94345	3.525	0.36682	D	0.879082	B;B;B;B;B;B;B;B	0.30179	0.229;0.143;0.143;0.271;0.143;0.143;0.229;0.229	B;B;B;B;B;B;B;B	0.25506	0.036;0.036;0.036;0.061;0.036;0.036;0.036;0.036	D	0.90467	0.4450	10	0.72032	D	0.01	.	10.8439	0.46733	0.0:0.9111:0.0:0.0889	.	2784;2743;2735;2894;2725;2757;2761;2757	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	A	2757;2761;2757;2725;2894;2735;2743;2784;2780	ENSP00000344848:G2757A;ENSP00000350277:G2761A;ENSP00000346602:G2757A;ENSP00000381756:G2725A;ENSP00000323856:G2894A;ENSP00000347044:G2735A;ENSP00000348702:G2743A;ENSP00000388180:G2784A;ENSP00000434583:G2780A	ENSP00000323856:G2894A	G	-	2	0	PLEC	145067707	0.803000	0.28956	0.100000	0.21137	0.164000	0.22412	2.961000	0.49168	2.470000	0.83445	0.442000	0.29010	GGT	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	C	NM_000445	-		144995719	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	SNP	0.602	G	G	144995719	C	G	144995719	3	3	227	1	0	0	0	0	1	0	0	0	12054	507	18	4	5377	4	PLEC	8	144995719	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	262904	144995719	1368303	25	18299											
TRAF2	7186	genome.wustl.edu	37	chr9	139815618	139815618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagatctcagacttcgccagGaagcgccaggaagctgtggc	13	11	1	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr9:139815618G>T	ENST00000247668.2	+	9	1141	c.1089G>T	c.(1087-1089)agG>agT	p.R363S	TRAF2_ENST00000536468.1_Missense_Mutation_p.R363S|TRAF2_ENST00000359662.3_Missense_Mutation_p.R415S	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	363	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.			LEMEASTYDGVFIWKISDFARKR -> RPFQAQCGHRYCSF CLASILRKL (in Ref. 1; AAA87706). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACTTCGCCAGGAAGCGCCAGG	0.582																																																	0								ENSG00000127191						73	65	68					9																	139815618		2203	4300	6503	TRAF2	SO:0001583	missense	0			-	HGNC	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1089G>T	9.37:g.139815618G>T	ENSP00000247668:p.Arg363Ser	Somatic	0	56	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP							pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R415S	ENST00000247668.2	37	c.1245	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774105	0.69992	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.36699	1.52;1.52;1.24	4.23	-0.197	0.13228	TRAF-type (1);TRAF-like (1);MATH (2);	0.115084	0.64402	D	0.000013	T	0.47210	0.1433	M	0.66378	2.025	0.40472	D	0.980358	D;D;D	0.63046	0.964;0.964;0.992	P;P;P	0.62184	0.727;0.824;0.899	T	0.44787	-0.9305	10	0.72032	D	0.01	-33.4344	6.5823	0.22602	0.1639:0.2728:0.5633:0.0	.	352;338;363	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	S	363;362;363;415;284	ENSP00000446414:R363S;ENSP00000247668:R363S;ENSP00000352685:R415S	ENSP00000247668:R363S	R	+	3	2	TRAF2	138935439	0.995000	0.38212	0.932000	0.37286	0.964000	0.63967	0.279000	0.18771	0.028000	0.15324	0.491000	0.48974	AGG	-	superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.582	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	protein_coding	OTTHUMT00000055166.1	G	NM_021138	-		139815618	1	no_errors	ENST00000359662	ensembl	human	known	74_37	missense	SNP	0.996	T	T	139815618	G	T	139815618	3	4	227	1	0	0	0	0	1	0	0	0	16445	1165	41	3	1119	3	TRAF2	9	139815618	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		139815618	1397813	26	18300											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24959220	24959220	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtaaaaccaaagccttgaGatgttcttttcaacgtaact	6	8	2	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr10:24959220G>T	ENST00000396432.2	-	3	656	c.170C>A	c.(169-171)tCt>tAt	p.S57Y		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAAGCCTTGAGATGTTCTTTT	0.348																																																	0								ENSG00000107863						138	123	128					10																	24959220		2203	4300	6503	ARHGAP21	SO:0001583	missense	0			-	HGNC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.170C>A	10.37:g.24959220G>T	ENSP00000379709:p.Ser57Tyr	Somatic	0	58	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S57Y	ENST00000396432.2	37	c.170	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877942	0.91664	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.19	5.19	0.71726	PDZ/DHR/GLGF (2);	0.053667	0.85682	D	0.000000	T	0.44603	0.1301	M	0.76838	2.35	0.80722	D	1	D;P;D	0.61697	0.984;0.95;0.99	D;P;P	0.66351	0.943;0.824;0.892	T	0.44436	-0.9328	10	0.72032	D	0.01	.	19.0741	0.93151	0.0:0.0:1.0:0.0	.	57;56;56	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	Y	57;56;57;57;46	ENSP00000379709:S57Y;ENSP00000365592:S57Y;ENSP00000405018:S57Y;ENSP00000400566:S46Y	ENSP00000365592:S57Y	S	-	2	0	ARHGAP21	24999226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.120000	0.94369	2.554000	0.86153	0.650000	0.86243	TCT	-	superfamily_PDZ,pfscan_PDZ		0.348	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	G	NM_020824	-		24959220	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24959220	G	T	24959220	3	4	227	1	0	0	0	0	1	0	0	0	871	942	33	3	5802	3	ARHGAP21	10	24959220	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		24959220	110575527	27	18301											
GPR158	57512	genome.wustl.edu	37	chr10	25878034	25878034	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctatatggctgttgcagttCacaatgagctcatcatctct	8	10	4	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr10:25878034C>G	ENST00000376351.3	+	8	2211	c.1852C>G	c.(1852-1854)Cac>Gac	p.H618D		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	618					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGCAGTTCACAATGAGCT	0.408																																																	0								ENSG00000151025						93	90	91					10																	25878034		2203	4300	6503	GPR158	SO:0001583	missense	0			-	HGNC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1852C>G	10.37:g.25878034C>G	ENSP00000365529:p.His618Asp	Somatic	0	71	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q6QR81|Q9ULT3	Missense_Mutation	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.H618D	ENST00000376351.3	37	c.1852	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574385	0.86542	.	.	ENSG00000151025	ENST00000376351	D	0.87809	-2.3	4.76	4.76	0.60689	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000003	D	0.93475	0.7918	M	0.78223	2.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.94274	0.7513	10	0.72032	D	0.01	.	18.1492	0.89669	0.0:1.0:0.0:0.0	.	618	Q5T848	GP158_HUMAN	D	618	ENSP00000365529:H618D	ENSP00000365529:H618D	H	+	1	0	GPR158	25918040	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.669000	0.54561	2.359000	0.80004	0.650000	0.86243	CAC	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	C	XM_166110	-		25878034	1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	SNP	1.000	G	G	25878034	C	G	25878034	3	3	227	1	0	0	0	0	1	0	0	0	6665	826	29	4	1882	4	GPR158	10	25878034	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	918814	25878034	109656713	28	18302											
DDX50	79009	genome.wustl.edu	37	chr10	70670138	70670138	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactataaagcttctgaaaGgtatgcagtttggttgttgt	11	4	1	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr10:70670138G>T	ENST00000373585.3	+	3	567	c.460G>T	c.(460-462)Ggt>Tgt	p.G154C	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	154						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCTTCTGAAAGGTATGCAGTT	0.438																																																	0								ENSG00000107625						102	102	102					10																	70670138		2203	4300	6503	DDX50	SO:0001630	splice_region_variant	0			-	HGNC	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.460+1G>T	10.37:g.70670138G>T		Somatic	0	66	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	15.38	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G154C	ENST00000373585.3	37	c.460	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360904	0.82353	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.19806	2.12	5.14	5.14	0.70334	RNA helicase, DEAD-box type, Q motif (1);	0.227351	0.45126	D	0.000382	T	0.18173	0.0436	N	0.19112	0.55	0.80722	D	1	P;P	0.46952	0.887;0.472	B;B	0.42882	0.401;0.353	T	0.02167	-1.1202	10	0.59425	D	0.04	-12.8551	17.1218	0.86704	0.0:0.0:1.0:0.0	.	154;154	Q9BQ39;B4DED6	DDX50_HUMAN;.	C	154	ENSP00000362687:G154C	ENSP00000362687:G154C	G	+	1	0	DDX50	70340144	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.312000	0.78968	2.538000	0.85594	0.484000	0.47621	GGT	-	superfamily_P-loop_NTPase		0.438	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	protein_coding	OTTHUMT00000048363.1	G	NM_024045	-	Missense_Mutation	70670138	1	no_errors	ENST00000373585	ensembl	human	known	74_37	missense	SNP	1.000	T	T	70670138	G	T	70670138	5	4	227	1	0	0	0	0	0	0	1	0	4370	1014	35	3	470	3	DDX50	10	70670138	Splice_Site	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	44792104	70670138	64864609	29	18303											
PLAU	414236	genome.wustl.edu	37	chr10	75674654	75674654	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagctgtgagatcactgGctttggaaaagagaattcta	10	7	2	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr10:75674654G>T	ENST00000409178.1	-	2	268				PLAU_ENST00000446342.1_Missense_Mutation_p.G300V|PLAU_ENST00000372762.4_Missense_Mutation_p.G281V|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.G317V	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GAGATCACTGGCTTTGGAAAA	0.502																																																	0								ENSG00000122861						92	78	83					10																	75674654		2203	4300	6503	PLAU	SO:0001627	intron_variant	0			-	HGNC		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+1622C>A	10.37:g.75674654G>T		Somatic	0	50	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q3KRG4|Q8NAK4	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G317V	ENST00000409178.1	37	c.950	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158188	0.78114	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.95103	-3.61;-3.61;-3.61	5.78	4.87	0.63330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	H	0.99609	4.655	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;0.999	D	0.97907	1.0306	10	0.87932	D	0	.	9.7625	0.40541	0.0909:0.0:0.9091:0.0	.	300;281;317;317	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	V	300;317;281;281	ENSP00000388474:G300V;ENSP00000361850:G317V;ENSP00000361848:G281V	ENSP00000361847:G281V	G	+	2	0	PLAU	75344660	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.514000	0.60482	2.730000	0.93505	0.655000	0.94253	GGC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.502	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	protein_coding	OTTHUMT00000048746.1	G	NM_001001791	-		75674654	1	no_errors	ENST00000372764	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75674654	G	T	75674654	1	4	227	0	1	0	0	0	0	0	0	0	12024	1203	42	3		3	PLAU	10	75674654	Intron	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	5004516	75674654	59860093	30	18304											
CPN1	1369	genome.wustl.edu	37	chr10	101841225	101841225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtctcccctccacgctgCgcccaatgctgtagacccgc	10	18	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr10:101841225C>T	ENST00000370418.3	-	1	409	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	53	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTCCACGCTGCGCCCAATGCT	0.597																																																	0								ENSG00000120054						64	57	60					10																	101841225		2203	4300	6503	CPN1	SO:0001583	missense	0			-	HGNC	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.158G>A	10.37:g.101841225C>T	ENSP00000359446:p.Arg53His	Somatic	0	28	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B1AP59	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.R53H	ENST00000370418.3	37	c.158	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428843	0.62844	.	.	ENSG00000120054	ENST00000370418	T	0.11495	2.77	5.45	4.54	0.55810	Peptidase M14, carboxypeptidase A (3);	0.110754	0.64402	D	0.000008	T	0.17534	0.0421	M	0.78801	2.425	0.54753	D	0.999986	B	0.15473	0.013	B	0.14578	0.011	T	0.03025	-1.1081	10	0.87932	D	0	-4.2766	14.5973	0.68415	0.0:0.9282:0.0:0.0718	.	53	P15169	CBPN_HUMAN	H	53	ENSP00000359446:R53H	ENSP00000359446:R53H	R	-	2	0	CPN1	101831215	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.651000	0.37302	2.555000	0.86185	0.555000	0.69702	CGC	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14		0.597	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	protein_coding	OTTHUMT00000049828.1	C	NM_001308	-		101841225	-1	no_errors	ENST00000370418	ensembl	human	known	74_37	missense	SNP	0.997	T	T	101841225	C	T	101841225	3	4	227	1	0	0	0	0	1	0	0	0	3811	768	27	1	1254	1	CPN1	10	101841225	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	26166571	101841225	33693522	31	18305											
PSD	5662	genome.wustl.edu	37	chr10	104172156	104172156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcttgcccaggtgccggGccacatcggccttcctgaag	11	15	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr10:104172156G>A	ENST00000020673.5	-	6	2256	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	PSD_ENST00000406432.1_Missense_Mutation_p.A577V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	577	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGTGCCGGGCCACATCGGC	0.602																																																	0								ENSG00000059915						60	52	55					10																	104172156		2203	4300	6503	PSD	SO:0001583	missense	0			-	HGNC	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1730C>T	10.37:g.104172156G>A	ENSP00000020673:p.Ala577Val	Somatic	0	63	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.A577V	ENST00000020673.5	37	c.1730	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.445731	0.96187	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	5.77	5.77	0.91146	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	M	0.93462	3.42	0.80722	D	1	P	0.42248	0.774	P	0.58577	0.841	T	0.81200	-0.1041	10	0.87932	D	0	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	577	A5PKW4	PSD1_HUMAN	V	577;480;577	ENSP00000020673:A577V;ENSP00000384830:A577V	ENSP00000020673:A577V	A	-	2	0	PSD	104162146	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.476000	0.97823	2.744000	0.94065	0.561000	0.74099	GCC	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.602	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	protein_coding	OTTHUMT00000050041.2	G		-		104172156	-1	no_errors	ENST00000020673	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104172156	G	A	104172156	3	1	227	1	0	0	0	0	1	0	0	0	12651	1203	42	2	1392	2	PSD	10	104172156	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	2330931	104172156	31362591	32	18306											
MUC2	4583	genome.wustl.edu	37	chr11	1080568	1080568	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccacatcaccaccttcgatGggaagacgtacaccttccac	6	17	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr11:1080568G>C	ENST00000441003.2	+	9	1237	c.1210G>C	c.(1210-1212)Ggg>Cgg	p.G404R	MUC2_ENST00000359061.5_Missense_Mutation_p.G404R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	404	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)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACCTTCGATGGGAAGACGTA	0.652																																																	0								ENSG00000198788						27	31	30					11																	1080568		2035	4186	6221	MUC2	SO:0001583	missense	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1210G>C	11.37:g.1080568G>C	ENSP00000415183:p.Gly404Arg	Somatic	0	17	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	4	71.43	Q14878	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G404R	ENST00000441003.2	37	c.1210		11	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953778	0.53293	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.70045	-0.45;-0.45	4.25	4.25	0.50352	.	0.177614	0.33515	U	0.004828	D	0.82921	0.5142	M	0.88704	2.975	0.39277	D	0.964498	P	0.42649	0.786	P	0.58130	0.833	D	0.87214	0.2249	10	0.59425	D	0.04	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	404	E7EUV1	.	R	404	ENSP00000415183:G404R;ENSP00000351956:G404R	ENSP00000351956:G404R	G	+	1	0	MUC2	1070568	1.000000	0.71417	0.841000	0.33234	0.847000	0.48162	6.347000	0.73004	2.219000	0.72066	0.491000	0.48974	GGG	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1080568	1	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	SNP	1.000	C	C	1080568	G	C	1080568	3	2	227	1	0	0	0	0	1	0	0	0	9977	1348	47	4	1244	4	MUC2	11	1080568	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		1080568	133925948	33	18307											
P4HA3	283208	genome.wustl.edu	37	chr11	73990432	73990432	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggaagggcccttcttaCcttttgctgatgcggtactc	10	12	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr11:73990432C>T	ENST00000331597.4	-	8	1221		c.e8+1		P4HA3_ENST00000427714.2_Splice_Site	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III							endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GCCCTTCTTACCTTTTGCTGA	0.552																																																	0								ENSG00000149380						242	196	211					11																	73990432		2200	4293	6493	P4HA3	SO:0001630	splice_region_variant	0			-	HGNC	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1175+1G>A	11.37:g.73990432C>T		Somatic	0	57	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Splice_Site	SNP							-	e8+1	ENST00000331597.4	37	c.1175+1	CCDS8230.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479342	0.84747	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8385	0.70206	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HA3	73668080	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.070000	0.71220	2.439000	0.82584	0.655000	0.94253	.	-	-		0.552	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HA3	protein_coding	OTTHUMT00000382988.1	C	NM_182904	-	Intron	73990432	-1	no_errors	ENST00000331597	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	73990432	C	T	73990432	5	4	227	1	0	0	0	0	0	0	1	0	11360	521	18	2	482	2	P4HA3	11	73990432	Splice_Site	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	72909864	73990432	61016084	34	18308											
R3HDM2	22864	genome.wustl.edu	37	chr12	57674222	57674222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgctgctgctgctgctgCtgttgctgctgggcagtaca	14	10	0	0			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr12:57674222C>T	ENST00000347140.3	-	14	1611	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|R3HDM2_ENST00000402412.1_Silent_p.Q421Q|R3HDM2_ENST00000441731.2_Silent_p.Q68Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567																																																	0								ENSG00000179912						104	93	97					12																	57674222		2203	4300	6503	R3HDM2	SO:0001819	synonymous_variant	0			-	HGNC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1221G>A	12.37:g.57674222C>T		Somatic	0	37	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q2M1T9|Q3ZCT5	Silent	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q407	ENST00000347140.3	37	c.1221	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018308	0.35606	.	.	ENSG00000179912	ENST00000466401	.	.	.	4.49	1.62	0.23740	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	1.0729	5.4164	0.16376	0.0:0.5998:0.1455:0.2548	.	.	.	.	N	5	.	.	S	-	2	0	R3HDM2	55960489	0.030000	0.19436	0.992000	0.48379	0.921000	0.55340	-1.132000	0.03235	0.156000	0.19299	-0.294000	0.09567	AGC	-	NULL		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	protein_coding	OTTHUMT00000326570.2	C	NM_014925	-		57674222	-1	no_errors	ENST00000347140	ensembl	human	known	74_37	silent	SNP	0.991	T	T	57674222	C	T	57674222	2	4	227	1	0	0	0	0	0	0	0	1	12896	796	28	2		2	R3HDM2	12	57674222	Silent	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		57674222	76177673	35	18309											
SLC26A10	65012	genome.wustl.edu	37	chr12	58019389	58019389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggggacactgacccGggtaggactcctggacaggg	18	10	0	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr12:58019389G>T	ENST00000320442.4	+	14	1864	c.1553G>T	c.(1552-1554)cGg>cTg	p.R518L	SLC26A10_ENST00000490243.1_Intron|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	518	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					ACACTGACCCGGGTAGGACTC	0.592																																																	0								ENSG00000135502						64	58	60					12																	58019389		2203	4300	6503	SLC26A10	SO:0001583	missense	0			-	HGNC		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1553G>T	12.37:g.58019389G>T	ENSP00000320217:p.Arg518Leu	Somatic	0	53	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP							pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R518L	ENST00000320442.4	37	c.1553	CCDS8949.2	12	.	.	.	.	.	.	.	.	.	.	.	10.52	1.373855	0.24857	.	.	ENSG00000135502	ENST00000320442	D	0.88509	-2.39	4.62	1.47	0.22746	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.74831	0.3768	N	0.20807	0.61	0.54753	D	0.999985	P	0.35468	0.503	B	0.29942	0.109	T	0.67019	-0.5776	9	0.66056	D	0.02	.	2.1838	0.03881	0.3312:0.0:0.4232:0.2456	.	518	Q8NG04	S2610_HUMAN	L	518	ENSP00000320217:R518L	ENSP00000320217:R518L	R	+	2	0	SLC26A10	56305656	0.987000	0.35691	0.843000	0.33291	0.276000	0.26787	1.188000	0.32102	0.179000	0.19938	0.557000	0.71058	CGG	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom		0.592	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	protein_coding	OTTHUMT00000250311.2	G		-		58019389	1	no_errors	ENST00000320442	ensembl	human	known	74_37	missense	SNP	0.805	T	T	58019389	G	T	58019389	3	4	227	1	0	0	0	0	1	0	0	0	14523	1116	39	3	1607	3	SLC26A10	12	58019389	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	345167	58019389	75832506	36	18310											
KCNC2	3747	genome.wustl.edu	37	chr12	75441989	75441989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtcgtcagtaggaaaCatgtttcccctcttctgttt	7	12	3	0			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr12:75441989C>T	ENST00000549446.1	-	4	2404	c.1724G>A	c.(1723-1725)tGt>tAt	p.C575Y	KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000393288.2_Missense_Mutation_p.C575Y|KCNC2_ENST00000341669.3_Missense_Mutation_p.C575Y|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000548513.1_Missense_Mutation_p.C575Y|KCNC2_ENST00000298972.1_Missense_Mutation_p.C575Y|KCNC2_ENST00000550433.1_Missense_Mutation_p.C575Y	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	575					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CAGTAGGAAACATGTTTCCCC	0.483																																																	0								ENSG00000166006						326	254	279					12																	75441989		2203	4300	6503	KCNC2	SO:0001583	missense	0			-	HGNC	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1724G>A	12.37:g.75441989C>T	ENSP00000449253:p.Cys575Tyr	Somatic	0	54	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.C575Y	ENST00000549446.1	37	c.1724	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607081	0.87157	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000393288	D;D;D;D;D;D	0.98732	-4.58;-4.77;-5.1;-4.58;-4.77;-4.7	5.55	5.55	0.83447	.	0.918110	0.09437	N	0.802364	D	0.98982	0.9653	L	0.54323	1.7	0.80722	D	1	P;P;D	0.69078	0.917;0.864;0.997	P;B;D	0.80764	0.584;0.38;0.994	D	0.97849	1.0273	10	0.66056	D	0.02	.	19.4922	0.95054	0.0:1.0:0.0:0.0	.	575;575;575	Q96PR1-2;Q96PR1;Q96PR1-3	.;KCNC2_HUMAN;.	Y	575	ENSP00000448301:C575Y;ENSP00000449941:C575Y;ENSP00000449253:C575Y;ENSP00000340121:C575Y;ENSP00000298972:C575Y;ENSP00000376966:C575Y	ENSP00000298972:C575Y	C	-	2	0	KCNC2	73728256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.604000	0.88044	0.585000	0.79938	TGT	-	NULL		0.483	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	protein_coding	OTTHUMT00000405581.2	C	NM_153748	-		75441989	-1	no_errors	ENST00000549446	ensembl	human	known	74_37	missense	SNP	1.000	T	T	75441989	C	T	75441989	3	4	227	1	0	0	0	0	1	0	0	0	8017	478	17	2	266	2	KCNC2	12	75441989	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	17422600	75441989	58409906	37	18311											
GLT8D2	83468	genome.wustl.edu	37	chr12	104387183	104387183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttacccaggtgccttatGtgccacagggggttaattgt	11	9	0	0			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr12:104387183G>T	ENST00000360814.4	-	10	1272	c.867C>A	c.(865-867)caC>caA	p.H289Q	GLT8D2_ENST00000546436.1_Missense_Mutation_p.H289Q|GLT8D2_ENST00000548660.1_Missense_Mutation_p.H289Q	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	289						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGTGCCTTATGTGCCACAGGG	0.453																																																	0								ENSG00000120820						62	62	62					12																	104387183		2203	4300	6503	GLT8D2	SO:0001583	missense	0			-	HGNC	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.867C>A	12.37:g.104387183G>T	ENSP00000354053:p.His289Gln	Somatic	0	58	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q96KA2	Missense_Mutation	SNP							pfam_Glyco_trans_8	p.H289Q	ENST00000360814.4	37	c.867	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982355	0.74474	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.22945	1.93;1.93;1.93	5.44	5.44	0.79542	.	0.043012	0.85682	D	0.000000	T	0.50343	0.1610	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.53704	-0.8401	10	0.87932	D	0	.	13.5406	0.61672	0.0747:0.0:0.9252:0.0	.	289	Q9H1C3	GL8D2_HUMAN	Q	289	ENSP00000354053:H289Q;ENSP00000449750:H289Q;ENSP00000447450:H289Q	ENSP00000354053:H289Q	H	-	3	2	GLT8D2	102911313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.538000	0.60650	2.557000	0.86248	0.655000	0.94253	CAC	-	pfam_Glyco_trans_8		0.453	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	protein_coding	OTTHUMT00000407371.1	G	NM_031302	-		104387183	-1	no_errors	ENST00000360814	ensembl	human	known	74_37	missense	SNP	1.000	T	T	104387183	G	T	104387183	3	4	227	1	0	0	0	0	1	0	0	0	6472	1368	48	3	190	3	GLT8D2	12	104387183	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	28945194	104387183	29464712	38	18312											
RB1	5925	genome.wustl.edu	37	chr13	48955526	48955550	+	Frame_Shift_Del	DEL	AAACATTTAGAACGATGTGAACATC	AAACATTTAGAACGATGTGAACATC	-													acttgacaagagaaatgataAaacatttagaacgatgtgaa					rs147534828|rs121913303|rs146236493|rs121913304		TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	AAACATTTAGAACGATGTGAACATC	AAACATTTAGAACGATGTGAACATC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr13:48955526_48955550delAAACATTTAGAACGATGTGAACATC	ENST00000267163.4	+	17	1780_1804	c.1642_1666delAAACATTTAGAACGATGTGAACATC	c.(1642-1668)aaacatttagaacgatgtgaacatcgafs	p.KHLERCEHR548fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	548	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R552*(5)|p.R556*(5)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGA	0.342	R552*(NCIH1048_LUNG)	6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	34	Whole gene deletion(15)|Substitution - Nonsense(10)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|eye(7)|central_nervous_system(5)|breast(5)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)|ovary(1)	GRCh37	CM942039|CM952103|CM961229|CM961230|CM961231	RB1	M	rs121913303|rs121913304	ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1642_1666delAAACATTTAGAACGATGTGAACATC	13.37:g.48955526_48955550delAAACATTTAGAACGATGTGAACATC	ENSP00000267163:p.Lys548fs	Somatic					0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.K548fs	ENST00000267163.4	37	c.1642_1666	CCDS31973.1	13																																																																																			-	pfam_RB_A,superfamily_Cyclin-like		0.342	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	AAACATTTAGAACGATGTGAACATC				48955550	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	48955550	AAACATTTAGAACGATGTGAACATC	-	48955526	7	5	227	1	0	1	0	1	0	0	0	0	13106	15	1	0	1708	0	RB1	13	48955526	Frame_Shift_Del	DEL	AAACATTTAGAACGATGTGAACATC	TCGA-WK-A8XZ-01A-11D-A37C-09		48955526	66214352	39	18313											
DIS3	22894	genome.wustl.edu	37	chr13	73345952	73345952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttcacaaagatacacaGttgttcctcttctggctgat	6	11	3	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr13:73345952G>T	ENST00000377767.4	-	11	1686	c.1586C>A	c.(1585-1587)aCt>aAt	p.T529N	DIS3_ENST00000545453.1_Missense_Mutation_p.T367N|DIS3_ENST00000377780.4_Missense_Mutation_p.T499N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	529					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)		AAGATACACAGTTGTTCCTCT	0.328										Multiple Myeloma(4;0.011)																																							0								ENSG00000083520						89	88	88					13																	73345952		2203	4300	6503	DIS3	SO:0001583	missense	0			-	HGNC	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.1586C>A	13.37:g.73345952G>T	ENSP00000366997:p.Thr529Asn	Somatic	0	43	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP							smart_PIN_dom	p.T529N	ENST00000377767.4	37	c.1586	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299240	0.81025	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.57752	0.38;0.38;0.38	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	H	0.95611	3.695	0.80722	D	1	P;D	0.76494	0.923;0.999	D;D	0.81914	0.935;0.995	D	0.86806	0.1995	10	0.87932	D	0	.	19.972	0.97287	0.0:0.0:1.0:0.0	.	499;529	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	529;499;367	ENSP00000366997:T529N;ENSP00000367011:T499N;ENSP00000440058:T367N	ENSP00000366997:T529N	T	-	2	0	DIS3	72243953	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.801000	0.85960	2.724000	0.93272	0.462000	0.41574	ACT	-	NULL		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	G	NM_014953	-		73345952	-1	no_errors	ENST00000377767	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73345952	G	T	73345952	3	4	227	1	0	0	0	0	1	0	0	0	4537	1029	36	3	1334	3	DIS3	13	73345952	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	24390426	73345952	41823926	40	18314											
MYH7	4625	genome.wustl.edu	37	chr14	23897840	23897840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaactgctgcagcttctCgttggtgaagttgatgcaga	13	7	1	4	rs121913651		TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr14:23897840C>T	ENST00000355349.3	-	15	1609	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	483	Myosin motor.		E -> K (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCAGCTTCTCGTTGGTGAAG	0.537																																																	0			GRCh37	CM990893	MYH7	M	rs121913651	ENSG00000092054						134	105	114					14																	23897840		2203	4300	6503	MYH7	SO:0001583	missense	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1447G>A	14.37:g.23897840C>T	ENSP00000347507:p.Glu483Lys	Somatic	0	179	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	73	41.73	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E483K	ENST00000355349.3	37	c.1447	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947310	0.92593	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98120	-4.73	4.24	4.24	0.50183	Myosin head, motor domain (3);	.	.	.	.	D	0.99083	0.9685	H	0.98507	4.25	0.80722	D	1	P	0.37101	0.582	P	0.51229	0.663	D	0.99865	1.1088	9	0.87932	D	0	.	16.8116	0.85722	0.0:1.0:0.0:0.0	.	483	P12883	MYH7_HUMAN	K	483	ENSP00000347507:E483K	ENSP00000347507:E483K	E	-	1	0	MYH7	22967680	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	7.426000	0.80270	2.202000	0.70862	0.563000	0.77884	GAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	C	NM_000257	rs121913651		23897840	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23897840	C	T	23897840	3	4	227	1	0	0	0	0	1	0	0	0	10041	893	31	1	4464	1	MYH7	14	23897840	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		23897840	83451700	41	18315											
RYR3	6263	genome.wustl.edu	37	chr15	34042401	34042401	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctggtaccatatgacacCttgactgccaaggaaaagtt	8	10	1	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr15:34042401C>A	ENST00000389232.4	+	57	8383	c.8313C>A	c.(8311-8313)acC>acA	p.T2771T	RYR3_ENST00000415757.3_Silent_p.T2771T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2771	4 X approximate repeats.				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)		CATATGACACCTTGACTGCCA	0.507																																																	0								ENSG00000198838						72	69	70					15																	34042401		1943	4154	6097	RYR3	SO:0001819	synonymous_variant	0			-	HGNC		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.8313C>A	15.37:g.34042401C>A		Somatic	0	42	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	O15175|Q15412	Silent	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T2771	ENST00000389232.4	37	c.8313	CCDS45210.1	15																																																																																			-	pfam_Ryanodine_rcpt,superfamily_ARM-type_fold		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		34042401	1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	SNP	0.993	A	A	34042401	C	A	34042401	2	1	227	1	0	0	0	0	0	0	0	1	13778	668	24	3		3	RYR3	15	34042401	Silent	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		34042401	68488991	42	18316											
CTDSPL2	51496	genome.wustl.edu	37	chr15	44791989	44791989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacttacttttccagtccTtttccaagatgtcatttatc	4	11	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr15:44791989T>C	ENST00000260327.4	+	8	1510	c.947T>C	c.(946-948)cTt>cCt	p.L316P	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L316P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L244P|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L244P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	316	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TTTCCAGTCCTTTTCCAAGAT	0.284																																																	0								ENSG00000137770						125	131	129					15																	44791989		2198	4291	6489	CTDSPL2	SO:0001583	missense	0			-	HGNC	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.947T>C	15.37:g.44791989T>C	ENSP00000260327:p.Leu316Pro	Somatic	0	48	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP							pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.L316P	ENST00000260327.4	37	c.947	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760477	0.69763	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.18338	2.22;2.22	5.35	5.35	0.76521	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.055463	0.85682	D	0.000000	T	0.30386	0.0763	L	0.46885	1.475	0.80722	D	1	D;B	0.67145	0.996;0.075	P;B	0.58820	0.846;0.063	T	0.01039	-1.1472	10	0.36615	T	0.2	-9.0004	15.28	0.73773	0.0:0.0:0.0:1.0	.	244;316	Q05D32-2;Q05D32	.;CTSL2_HUMAN	P	316;244	ENSP00000260327:L316P;ENSP00000380000:L244P	ENSP00000260327:L316P	L	+	2	0	CTDSPL2	42579281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	2.147000	0.66899	0.528000	0.53228	CTT	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase		0.284	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	protein_coding	OTTHUMT00000253851.1	T	NM_016396	-		44791989	1	no_errors	ENST00000260327	ensembl	human	known	74_37	missense	SNP	1.000	C	C	44791989	T	C	44791989	3	2	227	1	0	0	0	0	1	0	0	0	4008	1609	56	5	973	5	CTDSPL2	15	44791989	Missense_Mutation	SNP	T	TCGA-WK-A8XZ-01A-11D-A37C-09	10749588	44791989	57739403	43	18317											
ALDH1A3	220	genome.wustl.edu	37	chr15	101425559	101425559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggagcaaatatgtgaaGtggaagaaggagataaggta	15	3	0	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr15:101425559G>T	ENST00000329841.5	+	2	719	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V63L|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	63					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)	AATATGTGAAGTGGAAGAAGG	0.363																																																	0								ENSG00000184254						76	77	77					15																	101425559		2203	4300	6503	ALDH1A3	SO:0001583	missense	0			-	HGNC	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.187G>T	15.37:g.101425559G>T	ENSP00000332256:p.Val63Leu	Somatic	0	39	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	33.33	Q6NT64	Missense_Mutation	SNP							pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V63L	ENST00000329841.5	37	c.187	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584503	0.65992	.	.	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T	0.79352	-1.26	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.121078	0.56097	D	0.000033	T	0.76948	0.4059	M	0.66560	2.04	0.29346	N	0.86567	P;B;B	0.34934	0.476;0.05;0.05	B;B;B	0.38264	0.269;0.071;0.065	T	0.77608	-0.2524	10	0.87932	D	0	.	11.226	0.48884	0.1158:0.0:0.8842:0.0	.	74;63;63	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	L	63;63;74	ENSP00000332256:V63L	ENSP00000332256:V63L	V	+	1	0	ALDH1A3	99243082	0.997000	0.39634	0.943000	0.38184	0.991000	0.79684	2.646000	0.46630	2.698000	0.92095	0.561000	0.74099	GTG	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.363	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	protein_coding	OTTHUMT00000313620.2	G		-		101425559	1	no_errors	ENST00000329841	ensembl	human	known	74_37	missense	SNP	0.995	T	T	101425559	G	T	101425559	3	4	227	1	0	0	0	0	1	0	0	0	492	1029	36	3	193	3	ALDH1A3	15	101425559	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	56633570	101425559	1105833	44	18318											
PMFBP1	83449	genome.wustl.edu	37	chr16	72162648	72162648	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaacactgtagctctgctcGgagattctcattttcttcct	6	12	3	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr16:72162648G>T	ENST00000237353.10	-	14	2257	c.1996C>A	c.(1996-1998)Cga>Aga	p.R666R	PMFBP1_ENST00000537465.1_Silent_p.R671R|PMFBP1_ENST00000355636.6_Silent_p.R521R	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	671						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTCTGCTCGGAGATTCTCA	0.408																																																	0								ENSG00000118557						162	146	152					16																	72162648		2198	4300	6498	PMFBP1	SO:0001819	synonymous_variant	0			-	HGNC	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1996C>A	16.37:g.72162648G>T		Somatic	0	58	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	9.38	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP							NULL	p.R671	ENST00000237353.10	37	c.2011	CCDS32483.1	16																																																																																			-	NULL		0.408	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	protein_coding	OTTHUMT00000396473.2	G	NM_031293	-		72162648	-1	no_errors	ENST00000537465	ensembl	human	known	74_37	silent	SNP	0.043	T	T	72162648	G	T	72162648	2	4	227	1	0	0	0	0	0	0	0	1	12136	1124	39	3		3	PMFBP1	16	72162648	Silent	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		72162648	18192105	45	18319											
TP53	7157	genome.wustl.edu	37	chr17	7578536	7578536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagttggcaaaacatctTgttgagggcaggggagtact	15	7	1	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr17:7578536T>C	ENST00000269305.4	-	5	583	c.394A>G	c.(394-396)Aag>Gag	p.K132E	TP53_ENST00000413465.2_Missense_Mutation_p.K132E|TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000359597.4_Missense_Mutation_p.K132E|TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132E	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(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)	CAAAACATCTTGTTGAGGGCA	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Substitution - Missense(35)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)	breast(11)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(7)|ovary(6)|large_intestine(5)|urinary_tract(5)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|adrenal_gland(2)|stomach(2)|oesophagus(2)|prostate(2)|soft_tissue(1)|cervix(1)|kidney(1)|biliary_tract(1)|pancreas(1)|liver(1)	GRCh37	CM086989|CM973641	TP53	M		ENSG00000141510						46	47	46					17																	7578536		2203	4300	6503	TP53	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;	-	HGNC	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.394A>G	17.37:g.7578536T>C	ENSP00000269305:p.Lys132Glu	Somatic	0	39	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	2	85.71	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K132E	ENST00000269305.4	37	c.394	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670498	0.88348	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.48	5.48	0.80851	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	0.91768	3.24	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.992;0.953;0.98;0.995;0.989;1.0	D	0.96352	0.9259	10	0.87932	D	0	-14.0777	13.8301	0.63375	0.0:0.0:0.0:1.0	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132E;ENSP00000352610:K132E;ENSP00000269305:K132E;ENSP00000398846:K132E;ENSP00000391127:K132E;ENSP00000391478:K132E;ENSP00000423862:K39E;ENSP00000424104:K132E	ENSP00000269305:K132E	K	-	1	0	TP53	7519261	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578536	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C	C	7578536	T	C	7578536	3	2	227	1	0	0	0	0	1	0	0	0	16388	1821	63	5	904	5	TP53	17	7578536	Missense_Mutation	SNP	T	TCGA-WK-A8XZ-01A-11D-A37C-09		7578536	73616674	46	18320											
ALOX12B	242	genome.wustl.edu	37	chr17	7984275	7984275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacatagctgggcaggcCaggaagaaagactcgccagc	14	11	0	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr17:7984275C>A	ENST00000319144.4	-	4	714	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	152	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGGGCAGGCCAGGAAGAAAG	0.647										Multiple Myeloma(8;0.094)																																							0								ENSG00000179477						70	65	66					17																	7984275		2203	4300	6503	ALOX12B	SO:0001583	missense	0			-	HGNC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.454G>T	17.37:g.7984275C>A	ENSP00000315167:p.Gly152Cys	Somatic	0	76	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	7	69.57		Missense_Mutation	SNP							pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.G152C	ENST00000319144.4	37	c.454	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990087	0.54041	.	.	ENSG00000179477	ENST00000319144	D	0.90732	-2.72	4.78	4.78	0.61160	Lipoxygenase, C-terminal (2);	0.154638	0.43579	D	0.000555	D	0.94185	0.8134	M	0.66939	2.045	0.41607	D	0.988885	D	0.89917	1.0	D	0.91635	0.999	D	0.94735	0.7913	10	0.87932	D	0	-25.5104	13.7238	0.62745	0.0:1.0:0.0:0.0	.	152	O75342	LX12B_HUMAN	C	152	ENSP00000315167:G152C	ENSP00000315167:G152C	G	-	1	0	ALOX12B	7925000	0.989000	0.36119	0.986000	0.45419	0.138000	0.21146	3.682000	0.54656	2.382000	0.81193	0.555000	0.69702	GGC	-	superfamily_LipOase_C,prints_LipOase_mml		0.647	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	protein_coding	OTTHUMT00000226984.3	C		-		7984275	-1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	SNP	0.994	A	A	7984275	C	A	7984275	3	1	227	1	0	0	0	0	1	0	0	0	537	594	21	3	1699	3	ALOX12B	17	7984275	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	405739	7984275	73210935	47	18321											
TICAM1	148022	genome.wustl.edu	37	chr19	4817152	4817152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggcctccagcttctccCgaacccgcagggcgatgtgt	12	15	1	0	rs372838204		TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr19:4817152C>A	ENST00000248244.5	-	2	1467	c.1238G>T	c.(1237-1239)cGg>cTg	p.R413L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	413	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAGCTTCTCCCGAACCCGCAG	0.617																																																	0								ENSG00000127666						34	35	35					19																	4817152		2203	4300	6503	TICAM1	SO:0001583	missense	0			-	HGNC	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1238G>T	19.37:g.4817152C>A	ENSP00000248244:p.Arg413Leu	Somatic	0	60	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP							superfamily_TIR_dom,pirsf_TICAM1	p.R413L	ENST00000248244.5	37	c.1238	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261225	0.59431	.	.	ENSG00000127666	ENST00000248244	T	0.02216	4.39	4.66	2.51	0.30379	.	0.233755	0.22016	N	0.065797	T	0.03477	0.0100	L	0.50333	1.59	0.35774	D	0.821141	P	0.48998	0.918	P	0.47044	0.535	T	0.47661	-0.9100	10	0.72032	D	0.01	-33.6417	5.1332	0.14921	0.0:0.6319:0.0:0.3681	.	413	Q8IUC6	TCAM1_HUMAN	L	413	ENSP00000248244:R413L	ENSP00000248244:R413L	R	-	2	0	TICAM1	4768152	0.940000	0.31905	0.175000	0.22980	0.398000	0.30690	1.709000	0.37909	1.085000	0.41206	0.313000	0.20887	CGG	-	superfamily_TIR_dom,pirsf_TICAM1		0.617	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	protein_coding	OTTHUMT00000450435.1	C	NM_014261	-		4817152	-1	no_errors	ENST00000248244	ensembl	human	known	74_37	missense	SNP	0.746	A	A	4817152	C	A	4817152	3	1	227	1	0	0	0	0	1	0	0	0	15899	652	23	3	904	3	TICAM1	19	4817152	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		4817152	54311831	48	18322											
HOOK2	29911	genome.wustl.edu	37	chr19	12874565	12874565	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcccccgcagctggccGctgcttgggttccatggtct	14	14	1	0			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr19:12874565G>T	ENST00000397668.3	-	21	1928	c.1855C>A	c.(1855-1857)Cgg>Agg	p.R619R	HOOK2_ENST00000264827.5_Silent_p.R617R|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	619	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCAGCTGGCCGCTGCTTGGGT	0.597																																																	0								ENSG00000095066						46	54	51					19																	12874565		2123	4256	6379	HOOK2	SO:0001819	synonymous_variant	0			-	HGNC	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1855C>A	19.37:g.12874565G>T		Somatic	0	29	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O60562	Silent	SNP							pfam_Hook-related_fam,superfamily_UBA-like	p.R619	ENST00000397668.3	37	c.1855	CCDS42508.1	19																																																																																			-	pfam_Hook-related_fam		0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	protein_coding	OTTHUMT00000451008.1	G	NM_013312	-		12874565	-1	no_errors	ENST00000397668	ensembl	human	known	74_37	silent	SNP	0.632	T	T	12874565	G	T	12874565	2	4	227	1	0	0	0	0	0	0	0	1	7285	1086	38	3		3	HOOK2	19	12874565	Silent	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	8057413	12874565	46254418	49	18323											
EMR2	30817	genome.wustl.edu	37	chr19	14875250	14875250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccagggacctacctgtgCctgcaggataactgaagttc	11	12	0	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr19:14875250C>T	ENST00000315576.3	-	11	1530	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	EMR2_ENST00000353876.1_Missense_Mutation_p.G267D|EMR2_ENST00000594076.1_Missense_Mutation_p.G267D|EMR2_ENST00000594294.1_Missense_Mutation_p.G311D|EMR2_ENST00000392967.2_Missense_Mutation_p.G360D|EMR2_ENST00000346057.1_Missense_Mutation_p.G311D|EMR2_ENST00000353005.1_Missense_Mutation_p.G218D|EMR2_ENST00000595839.1_Missense_Mutation_p.G218D|EMR2_ENST00000596991.2_Missense_Mutation_p.G360D|EMR2_ENST00000601345.1_Missense_Mutation_p.G360D|EMR2_ENST00000392964.3_Missense_Mutation_p.G99D|EMR2_ENST00000392965.3_Missense_Mutation_p.G360D	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	360					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTACCTGTGCCTGCAGGATA	0.552																																																	0								ENSG00000127507						56	53	54					19																	14875250		2203	4300	6503	EMR2	SO:0001583	missense	0			-	HGNC	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1079G>A	19.37:g.14875250C>T	ENSP00000319883:p.Gly360Asp	Somatic	0	42	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.G360D	ENST00000315576.3	37	c.1079	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832012	0.50845	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.79940	-0.89;-1.03;-0.43;0.37;1.07;-1.26;1.18;-1.32	3.54	2.48	0.30137	.	.	.	.	.	D	0.83031	0.5166	L	0.59436	1.845	0.80722	D	1	P;D;D;D;D;D;P;B	0.76494	0.787;0.958;0.998;0.999;0.997;0.998;0.777;0.343	B;P;D;D;D;D;B;B	0.68192	0.219;0.601;0.951;0.956;0.95;0.928;0.275;0.25	T	0.77965	-0.2389	9	0.17369	T	0.5	.	7.481	0.27404	0.0:0.8697:0.0:0.1303	.	360;267;360;218;311;360;360;360	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	D	360;360;311;267;218;360;99;311	ENSP00000319883:G360D;ENSP00000376694:G360D;ENSP00000263380:G311D;ENSP00000319454:G267D;ENSP00000319838:G218D;ENSP00000376692:G360D;ENSP00000376691:G99D;ENSP00000376689:G311D	ENSP00000319883:G360D	G	-	2	0	EMR2	14736250	0.013000	0.17824	0.671000	0.29857	0.128000	0.20619	-0.461000	0.06712	0.783000	0.33636	0.508000	0.49915	GGC	-	prints_GPCR_2_CD97		0.552	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	protein_coding	OTTHUMT00000466502.2	C		-		14875250	-1	no_errors	ENST00000315576	ensembl	human	known	74_37	missense	SNP	0.957	T	T	14875250	C	T	14875250	3	4	227	1	0	0	0	0	1	0	0	0	5107	739	26	2	1436	2	EMR2	19	14875250	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	2000685	14875250	44253733	50	18324											
NKPD1	284353	genome.wustl.edu	37	chr19	45655411	45655411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggctgggcggcttgagcgCgctgacggctcggatgagac	19	11	0	3			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr19:45655411C>T	ENST00000438936.2	-	3	1829	c.1618G>A	c.(1618-1620)Gcg>Acg	p.A540T	NKPD1_ENST00000589776.1_Missense_Mutation_p.A540T|NKPD1_ENST00000317951.4_Missense_Mutation_p.A762T|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_Intron			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	540						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGCTTGAGCGCGCTGACGGCT	0.736																																																	0								ENSG00000179846						6	9	8					19																	45655411		1912	4033	5945	NKPD1	SO:0001583	missense	0			-	HGNC	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1618G>A	19.37:g.45655411C>T	ENSP00000401739:p.Ala540Thr	Somatic	0	42	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP							pfam_KAP_NTPase	p.A762T	ENST00000438936.2	37	c.2284		19	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356277	0.24598	.	.	ENSG00000179846	ENST00000317951;ENST00000438936	T;T	0.44881	0.91;0.93	4.8	0.752	0.18398	.	.	.	.	.	T	0.26122	0.0637	L	0.36672	1.1	0.58432	D	0.999993	B	0.25169	0.119	B	0.15870	0.014	T	0.06643	-1.0815	9	0.15066	T	0.55	-2.071	8.0025	0.30306	0.0:0.6698:0.0:0.3302	.	540	Q17RQ9	NKPD1_HUMAN	T	762;540	ENSP00000321976:A762T;ENSP00000401739:A540T	ENSP00000321976:A762T	A	-	1	0	NKPD1	50347251	0.000000	0.05858	0.681000	0.30009	0.912000	0.54170	-0.193000	0.09573	0.160000	0.19432	0.561000	0.74099	GCG	-	NULL		0.736	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	protein_coding	OTTHUMT00000360950.2	C	NM_198478	-		45655411	-1	no_errors	ENST00000317951	ensembl	human	known	74_37	missense	SNP	0.557	T	T	45655411	C	T	45655411	3	4	227	1	0	0	0	0	1	0	0	0	10448	768	27	1	218	1	NKPD1	19	45655411	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	30780161	45655411	13473572	51	18325											
NLRP9	338321	genome.wustl.edu	37	chr19	56249610	56249610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccttcttcagctcagccCaggggattggcttgagttca	12	11	4	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr19:56249610C>A	ENST00000332836.2	-	1	158	c.131G>T	c.(130-132)tGg>tTg	p.W44L	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	44	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.W44L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAGCTCAGCCCAGGGGATTGG	0.453																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000185792						269	272	271					19																	56249610		2203	4300	6503	NLRP9	SO:0001583	missense	0			-	HGNC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.131G>T	19.37:g.56249610C>A	ENSP00000331857:p.Trp44Leu	Somatic	0	69	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	18	65.38	B2RN12|Q86W27	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.W44L	ENST00000332836.2	37	c.131	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639461	0.67244	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52754	0.65	3.63	3.63	0.41609	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.60534	0.2276	M	0.76727	2.345	0.38327	D	0.943704	D	0.56521	0.976	P	0.57283	0.817	T	0.66308	-0.5956	9	0.51188	T	0.08	.	11.173	0.48582	0.0:1.0:0.0:0.0	.	44	Q7RTR0	NALP9_HUMAN	L	44	ENSP00000331857:W44L	ENSP00000331857:W44L	W	-	2	0	NLRP9	60941422	0.546000	0.26457	0.927000	0.36925	0.292000	0.27327	1.280000	0.33202	2.365000	0.80145	0.650000	0.86243	TGG	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.453	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	protein_coding	OTTHUMT00000453653.1	C	NM_176820	-		56249610	-1	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	SNP	0.929	A	A	56249610	C	A	56249610	3	1	227	1	0	0	0	0	1	0	0	0	10486	595	21	3	2880	3	NLRP9	19	56249610	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09	10594199	56249610	2879373	52	18326											
TTC3	7267	genome.wustl.edu	37	chr21	38563714	38563714	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaatgttacaaaagaaattGagaaagcaaaggtaagttgt	9	3	0	2			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr21:38563714G>T	ENST00000399017.2	+	40	7851	c.5104G>T	c.(5104-5106)Gag>Tag	p.E1702*	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Nonsense_Mutation_p.E1702*|TTC3_ENST00000355666.1_Nonsense_Mutation_p.E1702*	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1702					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)				AAAAGAAATTGAGAAAGCAAA	0.313																																					Ovarian(38;194 1649 35661)												0								ENSG00000182670						36	36	36					21																	38563714		2202	4285	6487	TTC3	SO:0001587	stop_gained	0			-	HGNC	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.5104G>T	21.37:g.38563714G>T	ENSP00000381981:p.Glu1702*	Somatic	0	34	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Nonsense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E1702*	ENST00000399017.2	37	c.5104	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	54|54	22.693385|22.693385	0.99950|0.99950	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	.|.	.|.	.|.	5.31|5.31	3.49|3.49	0.39957|0.39957	.|.	0.366568|.	0.27730|.	N|.	0.018081|.	.|.	.|.	.|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.45353|.	T|.	0.12|.	-10.942|-10.942	8.236|8.236	0.31627|0.31627	0.185:0.0:0.815:0.0|0.185:0.0:0.815:0.0	.|.	.|.	.|.	.|.	X|L	1702|27	.|.	ENSP00000346791:E1702X|.	E|X	+|+	1|2	0|2	TTC3|TTC3	37485584|37485584	1.000000|1.000000	0.71417|0.71417	0.309000|0.309000	0.25155|0.25155	0.979000|0.979000	0.70002|0.70002	1.838000|1.838000	0.39211|0.39211	0.718000|0.718000	0.32166|0.32166	0.650000|0.650000	0.86243|0.86243	GAG|TGA	-	NULL		0.313	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	protein_coding	OTTHUMT00000194776.1	G		-		38563714	1	no_errors	ENST00000354749	ensembl	human	known	74_37	nonsense	SNP	0.839	T	T	38563714	G	T	38563714	4	4	227	1	0	0	0	0	0	1	0	0	16704	1291	45	3	5258	3	TTC3	21	38563714	Nonsense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		38563714	9566181	53	18327											
SAMM50	25813	genome.wustl.edu	37	chr22	44377307	44377307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggcggaatgttggtaCccattggtgataagccgtca	14	8	2	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chr22:44377307C>T	ENST00000350028.4	+	11	1130	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	325					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AATGTTGGTACCCATTGGTGA	0.388																																																	0								ENSG00000100347						215	191	199					22																	44377307		2203	4300	6503	SAMM50	SO:0001583	missense	0			-	HGNC	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.973C>T	22.37:g.44377307C>T	ENSP00000345445:p.Pro325Ser	Somatic	0	70	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP							pfam_Bac_surfAg_D15	p.P325S	ENST00000350028.4	37	c.973	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669612	0.47677	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.41065	1.01;1.01	4.95	4.95	0.65309	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.54323	1.7	0.80722	D	1	B;B	0.32968	0.392;0.387	B;B	0.35859	0.173;0.212	T	0.19976	-1.0289	10	0.21014	T	0.42	-27.2941	15.7342	0.77831	0.0:1.0:0.0:0.0	.	130;325	B3KUE6;Q9Y512	.;SAM50_HUMAN	S	325;115	ENSP00000345445:P325S;ENSP00000379505:P115S	ENSP00000345445:P325S	P	+	1	0	SAMM50	42708640	1.000000	0.71417	0.983000	0.44433	0.514000	0.34195	4.664000	0.61540	2.458000	0.83093	0.557000	0.71058	CCC	-	pfam_Bac_surfAg_D15		0.388	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	protein_coding	OTTHUMT00000318898.2	C	NM_015380	-		44377307	1	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	SNP	0.999	T	T	44377307	C	T	44377307	3	4	227	1	0	0	0	0	1	0	0	0	13837	507	18	2	1015	2	SAMM50	22	44377307	Missense_Mutation	SNP	C	TCGA-WK-A8XZ-01A-11D-A37C-09		44377307	6927259	54	18328											
AR	367	genome.wustl.edu	37	chrX	66765229	66765229	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcagcagcagcagcagcaaGagactagccccaggcagcag	13	13	0	1			TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chrX:66765229G>C	ENST00000374690.3	+	1	765	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	AR_ENST00000396044.3_Missense_Mutation_p.E81Q|AR_ENST00000504326.1_Missense_Mutation_p.E81Q|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	79	Gln-rich.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	gcagcagcaagagactagccc	0.642									Androgen Insensitivity Syndrome																																								0								ENSG00000169083						11	10	10					X																	66765229		2156	4212	6368	AR	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.241G>C	X.37:g.66765229G>C	ENSP00000363822:p.Glu81Gln	Somatic	0	49	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.28	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP							pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.E81Q	ENST00000374690.3	37	c.241	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	N	0.251	-1.006630	0.02112	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.71934	-0.61;-0.61;-0.61	5.2	-5.32	0.02722	.	.	.	.	.	T	0.50120	0.1597	N	0.05280	-0.08	0.09310	N	1	B;B;B	0.34329	0.078;0.025;0.449	B;B;B	0.38921	0.026;0.016;0.285	T	0.36841	-0.9731	9	0.20046	T	0.44	.	17.1942	0.86888	0.0:0.7494:0.1481:0.1025	.	81;81;79	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	81;81;81;73	ENSP00000363822:E81Q;ENSP00000421155:E81Q;ENSP00000379359:E81Q	ENSP00000363822:E81Q	E	+	1	0	AR	66681954	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-2.343000	0.01099	-1.154000	0.02825	-0.206000	0.12725	GAG	-	pfam_Andrgn_rcpt		0.642	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	G	NM_000044	-		66765229	1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	SNP	0.001	C	C	66765229	G	C	66765229	3	2	227	1	0	0	0	0	1	0	0	0	836	943	33	4	243	4	AR	23	66765229	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09		66765229	88505331	55	18329											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996392	140996392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcttctcctcctcgttacGaattcctgtggggtccaaga	8	13	2	1	rs199683263		TCGA-WK-A8XZ-01A-11D-A37C-09	TCGA-WK-A8XZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b3cc1e-5a9f-413a-bf84-f936bf806217	4f0633e4-1412-4a20-8b9c-0451a23d8b55	g.chrX:140996392G>A	ENST00000285879.4	+	4	3488	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	MAGEC1_ENST00000406005.2_Missense_Mutation_p.E135K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1068	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCGTTACGAATTCCTGTG	0.488										HNSCC(15;0.026)																																							0								ENSG00000155495						126	121	122					X																	140996392		2203	4300	6503	MAGEC1	SO:0001583	missense	0			GMAF=0	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3202G>A	X.37:g.140996392G>A	ENSP00000285879:p.Glu1068Lys	Somatic	0	60	0		0.548022604068033				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.E1068K	ENST00000285879.4	37	c.3202	CCDS35417.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	9.546	1.114687	0.20795	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05786	3.39;3.39	0.837	0.837	0.18896	.	.	.	.	.	T	0.15219	0.0367	L	0.58428	1.81	0.09310	N	1	D	0.61080	0.989	P	0.60949	0.881	T	0.08617	-1.0713	8	0.62326	D	0.03	.	.	.	.	.	1068	O60732	MAGC1_HUMAN	K	1068;135	ENSP00000285879:E1068K;ENSP00000385500:E135K	ENSP00000285879:E1068K	E	+	1	0	MAGEC1	140824058	0.055000	0.20627	0.003000	0.11579	0.015000	0.08874	1.631000	0.37092	0.696000	0.31696	0.279000	0.19357	GAA	-	pfam_MAGE,pfscan_MAGE		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	G	NM_005462	rs199683263		140996392	1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	SNP	0.003	A	A	140996392	G	A	140996392	3	1	227	1	0	0	0	0	1	0	0	0	9182	1059	37	1	3208	1	MAGEC1	23	140996392	Missense_Mutation	SNP	G	TCGA-WK-A8XZ-01A-11D-A37C-09	74231163	140996392	14274168	56	18330											
ZMYM1	79830	genome.wustl.edu	37	chr1	35580503	35580503	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacttgatgaggacattatCccagaacttagattttatcg	7	7	0	4			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr1:35580503C>T	ENST00000373330.1	+	11	3246	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	ZMYM1_ENST00000359858.4_Silent_p.I1024I|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1024						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGACATTATCCCAGAACTTA	0.318																																																	0								ENSG00000197056						106	98	100					1																	35580503		1838	4090	5928	ZMYM1	SO:0001819	synonymous_variant	0			-	HGNC	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3072C>T	1.37:g.35580503C>T		Somatic	0	78	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	63	36.36	D3DPR7|Q7Z3Q4	Silent	SNP							pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.I1024	ENST00000373330.1	37	c.3072	CCDS41302.1	1																																																																																			-	superfamily_RNaseH-like_dom		0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	protein_coding	OTTHUMT00000012705.1	C	NM_024772	-		35580503	1	no_errors	ENST00000359858	ensembl	human	novel	74_37	silent	SNP	1.000	T	T	35580503	C	T	35580503	2	4	228	1	0	0	0	0	0	0	0	1	17706	845	30	2		2	ZMYM1	1	35580503	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		35580503	213670118	1	18331											
USP24	23358	genome.wustl.edu	37	chr1	55567345	55567345	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctcagccccacaaaccctGaactggacctgctatccact	5	17	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr1:55567345G>A	ENST00000294383.6	-	43	5056	c.5057C>T	c.(5056-5058)tCa>tTa	p.S1686L	USP24_ENST00000407756.1_Missense_Mutation_p.S1526L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1686					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						CACAAACCCTGAACTGGACCT	0.468																																																	0								ENSG00000162402						55	55	55					1																	55567345		1954	4144	6098	USP24	SO:0001583	missense	0			-	HGNC	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.5057C>T	1.37:g.55567345G>A	ENSP00000294383:p.Ser1686Leu	Somatic	0	72	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	46.15	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.S1526L	ENST00000294383.6	37	c.4577	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526701	0.85706	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.05025	3.51;3.51	5.97	5.06	0.68205	.	0.062093	0.64402	D	0.000002	T	0.08670	0.0215	L	0.43152	1.355	0.51233	D	0.999919	P	0.43542	0.81	P	0.45946	0.498	T	0.29671	-1.0004	10	0.09843	T	0.71	.	14.3091	0.66403	0.0715:0.0:0.9285:0.0	.	1526	B7WPF4	.	L	1686;1526	ENSP00000294383:S1686L;ENSP00000385700:S1526L	ENSP00000294383:S1686L	S	-	2	0	USP24	55339933	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.598000	0.82745	2.833000	0.97629	0.585000	0.79938	TCA	-	superfamily_ARM-type_fold		0.468	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	protein_coding	OTTHUMT00000022275.2	G		-		55567345	-1	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	SNP	1.000	A	A	55567345	G	A	55567345	3	1	228	1	0	0	0	0	1	0	0	0	17062	1294	45	2	2909	2	USP24	1	55567345	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	19986842	55567345	193683276	2	18332											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564098	176564098	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggaggaggaagcgactgActtggtcctgacagcgagct	17	8	0	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr1:176564098A>T	ENST00000367662.3	+	3	2522	c.1358A>T	c.(1357-1359)gAc>gTc	p.D453V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D453V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	453	Metalloprotease.				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)			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						GAAGCGACTGACTTGGTCCTG	0.547																																																	0								ENSG00000116183						100	105	103					1																	176564098		2111	4229	6340	PAPPA2	SO:0001583	missense	0			-	HGNC	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.1358A>T	1.37:g.176564098A>T	ENSP00000356634:p.Asp453Val	Somatic	0	24	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D453V	ENST00000367662.3	37	c.1358	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.240415	0.01493	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30182	4.75;1.54	5.08	3.19	0.36642	.	1.258880	0.05311	N	0.524751	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.001	T	0.26292	-1.0107	10	0.27082	T	0.32	-0.1658	5.858	0.18730	0.1618:0.6777:0.0:0.1604	.	453;453	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	453	ENSP00000356634:D453V;ENSP00000356633:D453V	ENSP00000356633:D453V	D	+	2	0	PAPPA2	174830721	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	0.200000	0.17257	0.524000	0.28502	-0.219000	0.12488	GAC	-	NULL		0.547	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	A		-		176564098	1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	SNP	0.000	T	T	176564098	A	T	176564098	3	4	228	1	0	0	0	0	1	0	0	0	11435	275	10	5	1364	5	PAPPA2	1	176564098	Missense_Mutation	SNP	A	TCGA-WK-A8Y0-01A-11D-A417-09	120996753	176564098	72686523	3	18333											
TPR	7175	genome.wustl.edu	37	chr1	186302508	186302508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactggaacatgttccacaGgcccttctgactgcatagct	8	12	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr1:186302508G>A	ENST00000367478.4	-	37	5497	c.5201C>T	c.(5200-5202)cCt>cTt	p.P1734L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1734					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATGTTCCACAGGCCCTTCTGA	0.383			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0								ENSG00000047410						104	97	99					1																	186302508		1875	4100	5975	TPR	SO:0001583	missense	0			-	HGNC	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5201C>T	1.37:g.186302508G>A	ENSP00000356448:p.Pro1734Leu	Somatic	0	76	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	7	85.11	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP							pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.P1734L	ENST00000367478.4	37	c.5201	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934508	0.52866	.	.	ENSG00000047410	ENST00000367478	T	0.27104	1.69	5.09	5.09	0.68999	.	0.108809	0.64402	D	0.000004	T	0.27098	0.0664	L	0.59436	1.845	0.58432	D	0.999997	B	0.25850	0.136	B	0.17722	0.019	T	0.06698	-1.0812	10	0.72032	D	0.01	.	13.5442	0.61693	0.0:0.0:0.8443:0.1557	.	1734	P12270	TPR_HUMAN	L	1734	ENSP00000356448:P1734L	ENSP00000356448:P1734L	P	-	2	0	TPR	184569131	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.496000	0.73670	2.403000	0.81681	0.644000	0.83932	CCT	-	NULL		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	protein_coding	OTTHUMT00000086353.2	G	NM_003292	-		186302508	-1	no_errors	ENST00000367478	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186302508	G	A	186302508	3	1	228	1	0	0	0	0	1	0	0	0	16423	1000	35	2	1950	2	TPR	1	186302508	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	9738410	186302508	62948113	4	18334											
USH2A	7399	genome.wustl.edu	37	chr1	216251697	216251697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaatattccacttttcAgctccatctgtattttatat	4	9	3	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr1:216251697A>C	ENST00000307340.3	-	27	5692	c.5306T>G	c.(5305-5307)cTg>cGg	p.L1769R	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L1769R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1769	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCACTTTTCAGCTCCATCTG	0.368										HNSCC(13;0.011)																																							0								ENSG00000042781						152	170	164					1																	216251697		2203	4299	6502	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5306T>G	1.37:g.216251697A>C	ENSP00000305941:p.Leu1769Arg	Somatic	0	57	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	8	68.00	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L1769R	ENST00000307340.3	37	c.5306	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191451	0.78902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.89196	-2.48;-2.48	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34314	N	0.004067	D	0.95010	0.8385	M	0.87456	2.885	0.47214	D	0.99935	D	0.89917	1.0	D	0.97110	1.0	D	0.95799	0.8831	10	0.87932	D	0	.	15.3555	0.74423	1.0:0.0:0.0:0.0	.	1769	O75445	USH2A_HUMAN	R	1769	ENSP00000305941:L1769R;ENSP00000355910:L1769R	ENSP00000305941:L1769R	L	-	2	0	USH2A	214318320	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	6.097000	0.71452	2.039000	0.60335	0.528000	0.53228	CTG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	A	NM_007123	-		216251697	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	1.000	C	C	216251697	A	C	216251697	3	2	228	1	0	0	0	0	1	0	0	0	17043	188	7	5	10486	5	USH2A	1	216251697	Missense_Mutation	SNP	A	TCGA-WK-A8Y0-01A-11D-A417-09	29949189	216251697	32998924	5	18335											
TTC7A	57217	genome.wustl.edu	37	chr2	47300982	47300982	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggccagaacgaggctgccGttgactgcttcctcaccgcc	12	15	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:47300982G>C	ENST00000319190.5	+	20	2865	c.2497G>C	c.(2497-2499)Gtt>Ctt	p.V833L	RP11-761B3.1_ENST00000422269.1_Intron|AC073283.7_ENST00000421759.1_RNA|C2orf61_ENST00000464527.2_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.V857L|TTC7A_ENST00000409245.1_Missense_Mutation_p.V799L|TTC7A_ENST00000263737.6_Missense_Mutation_p.V479L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	833					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGAGGCTGCCGTTGACTGCTT	0.662																																																	0								ENSG00000068724						52	46	48					2																	47300982		2203	4300	6503	TTC7A	SO:0001583	missense	0			-	HGNC	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2497G>C	2.37:g.47300982G>C	ENSP00000316699:p.Val833Leu	Somatic	0	23	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP							pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V833L	ENST00000319190.5	37	c.2497	CCDS33193.1	2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959509	0.34565	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.36	1.51	0.23008	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.509435	0.21505	N	0.073474	T	0.35998	0.0951	L	0.39020	1.185	0.09310	N	0.999999	B;B;B;B	0.23128	0.08;0.011;0.08;0.009	B;B;B;B	0.24701	0.055;0.026;0.034;0.015	T	0.26430	-1.0103	10	0.09338	T	0.73	-4.4104	8.7165	0.34414	0.3712:0.0:0.6288:0.0	.	857;799;833;799	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	L	799;833;857;479;660	ENSP00000386307:V799L;ENSP00000316699:V833L;ENSP00000378320:V857L;ENSP00000263737:V479L	ENSP00000263737:V479L	V	+	1	0	TTC7A	47154486	0.001000	0.12720	0.001000	0.08648	0.685000	0.39939	0.578000	0.23773	0.003000	0.14656	0.491000	0.48974	GTT	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.662	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	protein_coding	OTTHUMT00000329667.2	G	XM_372927	-		47300982	1	no_errors	ENST00000319190	ensembl	human	known	74_37	missense	SNP	0.003	C	C	47300982	G	C	47300982	3	2	228	1	0	0	0	0	1	0	0	0	16719	1145	40	4	2575	4	TTC7A	2	47300982	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		47300982	195898391	6	18336											
FSHR	2492	genome.wustl.edu	37	chr2	49190918	49190918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgaatgcatctggcttagGggagcaggtcacgtcaacca	13	9	3	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:49190918G>T	ENST00000406846.2	-	10	1161	c.1042C>A	c.(1042-1044)Cct>Act	p.P348T	FSHR_ENST00000541117.1_Missense_Mutation_p.P84T|FSHR_ENST00000346173.3_Missense_Mutation_p.P286T|FSHR_ENST00000304421.4_Missense_Mutation_p.P322T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	348			P -> R (in ODG1). {ECO:0000269|PubMed:12571157}.		female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTGGCTTAGGGGAGCAGGTC	0.468									Gonadal Dysgenesis, 46 XX																																								0								ENSG00000170820						275	231	246					2																	49190918		2203	4300	6503	FSHR	SO:0001583	missense	0	Familial Cancer Database		-	HGNC		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1042C>A	2.37:g.49190918G>T	ENSP00000384708:p.Pro348Thr	Somatic	0	55	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.P348T	ENST00000406846.2	37	c.1042	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	18.12	3.554143	0.65425	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.13	5.13	0.70059	Gonadotropin hormone receptor, transmembrane domain (1);	0.054975	0.85682	D	0.000000	D	0.95802	0.8634	M	0.79475	2.455	0.80722	D	1	P;P;P	0.46512	0.879;0.853;0.879	P;P;P	0.50378	0.639;0.506;0.639	D	0.95410	0.8497	9	.	.	.	.	17.7464	0.88422	0.0:0.0:1.0:0.0	.	322;286;348	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	T	348;286;322;84	ENSP00000384708:P348T;ENSP00000333908:P286T;ENSP00000306780:P322T;ENSP00000444172:P84T	.	P	-	1	0	FSHR	49044422	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.657000	0.98554	2.673000	0.90976	0.561000	0.74099	CCT	-	pfam_GnHR_TM		0.468	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	protein_coding	OTTHUMT00000251367.2	G		-		49190918	-1	no_errors	ENST00000406846	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49190918	G	T	49190918	3	4	228	1	0	0	0	0	1	0	0	0	6075	1232	43	3	1049	3	FSHR	2	49190918	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	1889936	49190918	194008455	7	18337											
CHST10	9486	genome.wustl.edu	37	chr2	101014550	101014550	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgatgagttccaggcgctCcatgtagaccaggggctgaa	13	10	1	4			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:101014550C>A	ENST00000264249.3	-	5	632	c.247G>T	c.(247-249)Gag>Tag	p.E83*	CHST10_ENST00000409701.1_Nonsense_Mutation_p.E83*|CHST10_ENST00000542617.1_Nonsense_Mutation_p.E131*	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	83					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCCAGGCGCTCCATGTAGACC	0.547																																																	0								ENSG00000115526						124	126	125					2																	101014550		2203	4300	6503	CHST10	SO:0001587	stop_gained	0			-	HGNC	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.247G>T	2.37:g.101014550C>A	ENSP00000264249:p.Glu83*	Somatic	0	33	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q53T18	Nonsense_Mutation	SNP							pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.E131*	ENST00000264249.3	37	c.391	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275765	0.80580	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474	.	.	.	5.59	2.75	0.32379	.	0.458224	0.24490	N	0.038064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-24.0115	16.6223	0.84933	0.0:0.5775:0.4225:0.0	.	.	.	.	X	83;131;83;83;83;131;83	.	ENSP00000264249:E83X	E	-	1	0	CHST10	100380982	1.000000	0.71417	0.927000	0.36925	0.950000	0.60333	1.243000	0.32767	0.274000	0.22072	0.655000	0.94253	GAG	-	NULL		0.547	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	protein_coding	OTTHUMT00000253162.1	C	NM_004854	-		101014550	-1	no_errors	ENST00000542617	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	101014550	C	A	101014550	4	1	228	1	0	0	0	0	0	1	0	0	3400	864	30	3	835	3	CHST10	2	101014550	Nonsense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	51823632	101014550	142184823	8	18338											
MERTK	10461	genome.wustl.edu	37	chr2	112722787	112722787	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcctgacggagatggcggtCttcagttgtgaggcccacaa	15	10	2	3			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:112722787C>T	ENST00000295408.4	+	5	1034	c.777C>T	c.(775-777)gtC>gtT	p.V259V	MERTK_ENST00000409780.1_Silent_p.V83V|MERTK_ENST00000421804.2_Silent_p.V259V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	259	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGATGGCGGTCTTCAGTTGTG	0.507																																																	0								ENSG00000153208						125	100	108					2																	112722787		2203	4300	6503	MERTK	SO:0001819	synonymous_variant	0			-	HGNC	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.777C>T	2.37:g.112722787C>T		Somatic	0	44	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	36	30.77	Q9HBB4	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V259	ENST00000295408.4	37	c.777	CCDS2094.1	2																																																																																			-	smart_Ig_sub,pfscan_Ig-like_dom		0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	C		-		112722787	1	no_errors	ENST00000295408	ensembl	human	known	74_37	silent	SNP	0.449	T	T	112722787	C	T	112722787	2	4	228	1	0	0	0	0	0	0	0	1	9481	900	32	2		2	MERTK	2	112722787	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	11708237	112722787	130476586	9	18339											
SLC20A1	6574	genome.wustl.edu	37	chr2	113414763	113414763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggtgggatgtgcagttttCtgtgcccttatcgtctggtt	13	8	2	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:113414763C>T	ENST00000272542.3	+	6	1262	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	241					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTGCAGTTTTCTGTGCCCTTA	0.423																																																	0								ENSG00000144136						195	192	193					2																	113414763		2203	4300	6503	SLC20A1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.723C>T	2.37:g.113414763C>T		Somatic	0	23	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	46.51	Q08344|Q6DHX8|Q9UQ82	Silent	SNP							pfam_Phos_transporter	p.F241	ENST00000272542.3	37	c.723	CCDS2099.1	2																																																																																			-	pfam_Phos_transporter		0.423	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	protein_coding	OTTHUMT00000254086.2	C	NM_005415	-		113414763	1	no_errors	ENST00000272542	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113414763	C	T	113414763	2	4	228	1	0	0	0	0	0	0	0	1	14446	912	32	2		2	SLC20A1	2	113414763	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	691976	113414763	129784610	10	18340											
ZRANB3	84083	genome.wustl.edu	37	chr2	136029367	136029367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcctgaatgcttaggatagCcacgcgagtgtcaggatcct	12	10	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:136029367C>G	ENST00000264159.6	-	10	1293	c.1177G>C	c.(1177-1179)Gct>Cct	p.A393P	ZRANB3_ENST00000401392.1_Missense_Mutation_p.A393P|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A393P	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	393	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTTAGGATAGCCACGCGAGTG	0.373																																																	0								ENSG00000121988						75	72	73					2																	136029367		1854	4100	5954	ZRANB3	SO:0001583	missense	0			-	HGNC	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1177G>C	2.37:g.136029367C>G	ENSP00000264159:p.Ala393Pro	Somatic	0	57	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	18	62.50	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A393P	ENST00000264159.6	37	c.1177	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.568716	0.96540	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	T;T;T	0.75589	-0.95;-0.95;-0.95	5.94	5.94	0.96194	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90229	0.6945	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	1.0;1.0;1.0	D	0.91397	0.5140	10	0.72032	D	0.01	-3.8144	20.3593	0.98849	0.0:1.0:0.0:0.0	.	333;393;393	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	P	393;393;393;333	ENSP00000383979:A393P;ENSP00000264159:A393P;ENSP00000441320:A393P	ENSP00000264159:A393P	A	-	1	0	ZRANB3	135745837	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.458000	0.80787	2.807000	0.96579	0.591000	0.81541	GCT	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.373	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	protein_coding	OTTHUMT00000318254.1	C	NM_032143	-		136029367	-1	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	SNP	1.000	G	G	136029367	C	G	136029367	3	3	228	1	0	0	0	0	1	0	0	0	18231	739	26	4	2110	4	ZRANB3	2	136029367	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	22614604	136029367	107170006	11	18341											
LRP2	4036	genome.wustl.edu	37	chr2	170148813	170148813	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcttctccatcacaaAcccagttttgataaatgcat	4	11	4	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:170148813A>T	ENST00000263816.3	-	7	1004	c.719T>A	c.(718-720)gTt>gAt	p.V240D	LRP2_ENST00000443831.1_Missense_Mutation_p.V240D	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	240	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCATCACAAACCCAGTTTTG	0.443																																																	0								ENSG00000081479						151	136	141					2																	170148813		2203	4300	6503	LRP2	SO:0001583	missense	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.719T>A	2.37:g.170148813A>T	ENSP00000263816:p.Val240Asp	Somatic	0	40	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	10	68.75	O00711|Q16215	Missense_Mutation	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V240D	ENST00000263816.3	37	c.719	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372309	0.61624	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96104	-3.91;-3.91	5.56	5.56	0.83823	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.432617	0.23452	N	0.048026	D	0.98308	0.9439	H	0.95043	3.615	0.58432	D	0.999997	D;D	0.61697	0.978;0.99	P;D	0.65773	0.88;0.938	D	0.99601	1.0978	9	.	.	.	.	15.3737	0.74587	1.0:0.0:0.0:0.0	.	240;240	E9PC35;P98164	.;LRP2_HUMAN	D	240	ENSP00000263816:V240D;ENSP00000409813:V240D	.	V	-	2	0	LRP2	169857059	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	8.867000	0.92314	2.087000	0.62958	0.533000	0.62120	GTT	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	A	NM_004525	-		170148813	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	SNP	1.000	T	T	170148813	A	T	170148813	3	4	228	1	0	0	0	0	1	0	0	0	8958	43	2	5	13540	5	LRP2	2	170148813	Missense_Mutation	SNP	A	TCGA-WK-A8Y0-01A-11D-A417-09	34119446	170148813	73050560	12	18342											
ZAK	51776	genome.wustl.edu	37	chr2	173955845	173955845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtggaggaagttttgggaGtgtttatcgagccaaatgga	16	4	0	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr2:173955845G>T	ENST00000375213.3	+	2	164	c.86G>T	c.(85-87)aGt>aTt	p.S29I	MLTK_ENST00000338983.3_Missense_Mutation_p.S29I|MLTK_ENST00000431503.2_Intron|MLTK_ENST00000539448.1_Missense_Mutation_p.S29I|MLTK_ENST00000409176.2_Missense_Mutation_p.S29I	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AGTTTTGGGAGTGTTTATCGA	0.423																																																	0								ENSG00000091436						89	91	91					2																	173955845		2203	4300	6503	MLTK	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000375213.3:c.86G>T	2.37:g.173955845G>T	ENSP00000364361:p.Ser29Ile	Somatic	0	63	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S29I	ENST00000375213.3	37	c.86	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962946	0.92791	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	N	0.25380	0.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.992;1.0;0.995;0.996	D	0.88106	0.2822	10	0.66056	D	0.02	.	19.7604	0.96314	0.0:0.0:1.0:0.0	.	29;29;29;29	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	I	29	ENSP00000439414:S29I;ENSP00000387259:S29I;ENSP00000340257:S29I;ENSP00000364361:S29I;ENSP00000411923:S29I	ENSP00000340257:S29I	S	+	2	0	AC013461.1	173664091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	AGT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.423	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	G		-		173955845	1	no_errors	ENST00000375213	ensembl	human	known	74_37	missense	SNP	1.000	T	T	173955845	G	T	173955845	3	4	228	1	0	0	0	0	1	0	0	0	17519	1029	36	3	88	3	ZAK	2	173955845	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	3807032	173955845	69243528	13	18343											
UQCRC1	7384	genome.wustl.edu	37	chr3	48641757	48641757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagaccacatctcgcaTagatgcatcattctcctgca	6	12	3	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr3:48641757T>C	ENST00000203407.5	-	5	951	c.535A>G	c.(535-537)Atg>Gtg	p.M179V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	179					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACATCTCGCATAGATGCATCA	0.527																																					NSCLC(81;1112 1427 27031 32409 45529)												0								ENSG00000010256						166	133	144					3																	48641757		2203	4300	6503	UQCRC1	SO:0001583	missense	0			-	HGNC	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.535A>G	3.37:g.48641757T>C	ENSP00000203407:p.Met179Val	Somatic	0	30	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	B2R7R8|Q96DD2	Missense_Mutation	SNP							pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.M179V	ENST00000203407.5	37	c.535	CCDS2774.1	3	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304048	0.23736	.	.	ENSG00000010256	ENST00000203407	T	0.39787	1.06	5.83	-1.07	0.09968	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.517494	0.24282	N	0.039882	T	0.16471	0.0396	N	0.05012	-0.13	0.19575	N	0.999963	B;B	0.25743	0.001;0.133	B;B	0.27170	0.015;0.077	T	0.09357	-1.0678	10	0.40728	T	0.16	-10.0444	2.9677	0.05912	0.2381:0.0746:0.393:0.2943	.	64;179	B4DUL5;P31930	.;QCR1_HUMAN	V	179	ENSP00000203407:M179V	ENSP00000203407:M179V	M	-	1	0	UQCRC1	48616761	0.025000	0.19082	0.007000	0.13788	0.751000	0.42716	-0.292000	0.08332	-0.066000	0.12998	0.459000	0.35465	ATG	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16		0.527	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC1	protein_coding	OTTHUMT00000257517.1	T	NM_003365	-		48641757	-1	no_errors	ENST00000203407	ensembl	human	known	74_37	missense	SNP	0.001	C	C	48641757	T	C	48641757	3	2	228	1	0	0	0	0	1	0	0	0	17026	1406	49	5	943	5	UQCRC1	3	48641757	Missense_Mutation	SNP	T	TCGA-WK-A8Y0-01A-11D-A417-09		48641757	149380673	14	18344											
DCHS2	54798	genome.wustl.edu	37	chr4	155243560	155243560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactcattctgtaggaagGtctataatcatacgaaagta	8	7	4	0	rs147038002		TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr4:155243560G>A	ENST00000357232.4	-	13	2733	c.2734C>T	c.(2734-2736)Cct>Tct	p.P912S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	912	Cadherin 7. {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)		CTGTAGGAAGGTCTATAATCA	0.378																																																	0								ENSG00000197410						187	160	169					4																	155243560		2203	4300	6503	DCHS2	SO:0001583	missense	0			-	HGNC	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.2734C>T	4.37:g.155243560G>A	ENSP00000349768:p.Pro912Ser	Somatic	0	71	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	38	38.71	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP							pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P912S	ENST00000357232.4	37	c.2734	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	5.372	0.253940	0.10185	.	.	ENSG00000197410	ENST00000357232	T	0.59638	0.25	5.73	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.30386	0.0763	N	0.11673	0.155	0.80722	D	1	B	0.29612	0.251	B	0.27796	0.083	T	0.23726	-1.0180	10	0.02654	T	1	.	8.7382	0.34541	0.1012:0.1514:0.7474:0.0	.	912	Q6V1P9	PCD23_HUMAN	S	912	ENSP00000349768:P912S	ENSP00000349768:P912S	P	-	1	0	DCHS2	155463010	0.890000	0.30428	0.991000	0.47740	0.111000	0.19643	1.342000	0.33919	1.522000	0.49001	0.655000	0.94253	CCT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	G	NM_001142552	-		155243560	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	SNP	0.780	A	A	155243560	G	A	155243560	3	1	228	1	0	0	0	0	1	0	0	0	4290	1261	44	2	6068	2	DCHS2	4	155243560	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		155243560	35910716	15	18345											
FAT1	2195	genome.wustl.edu	37	chr4	187629482	187629482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttaaatttgcgatactGtatgtcacgtacccgttctc	7	9	2	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr4:187629482G>A	ENST00000441802.2	-	2	1709	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	500	Cadherin 4. {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						TTGCGATACTGTATGTCACGT	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						143	136	139					4																	187629482		2032	4172	6204	FAT1	SO:0001819	synonymous_variant	0			-	HGNC	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.1500C>T	4.37:g.187629482G>A		Somatic	0	41	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38		Silent	SNP							pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Y500	ENST00000441802.2	37	c.1500	CCDS47177.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187629482	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	silent	SNP	1.000	A	A	187629482	G	A	187629482	2	1	228	1	0	0	0	0	0	0	0	1	5691	1372	48	2		2	FAT1	4	187629482	Silent	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	32385922	187629482	3524794	16	18346											
WDR41	55255	genome.wustl.edu	37	chr5	76745618	76745618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgagagaatattatcctGgtgatcaaggaggcgcttaa	11	6	1	3			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr5:76745618G>T	ENST00000296679.4	-	8	1039	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	WDR41_ENST00000414719.2_Intron|WDR41_ENST00000507029.1_Missense_Mutation_p.Q167K	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	222						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		ATATTATCCTGGTGATCAAGG	0.363																																																	0								ENSG00000164253						113	110	111					5																	76745618		2203	4300	6503	WDR41	SO:0001583	missense	0			-	HGNC	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.664C>A	5.37:g.76745618G>T	ENSP00000296679:p.Gln222Lys	Somatic	0	81	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q222K	ENST00000296679.4	37	c.664	CCDS4038.1	5	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700104	0.68501	.	.	ENSG00000164253	ENST00000296679;ENST00000507029	T;T	0.64438	-0.1;-0.1	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100530	0.64402	D	0.000001	T	0.75177	0.3814	M	0.64997	1.995	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.75484	0.535;0.986	T	0.66448	-0.5921	10	0.06236	T	0.91	-8.4511	20.5407	0.99260	0.0:0.0:1.0:0.0	.	167;222	B4DT55;Q9HAD4	.;WDR41_HUMAN	K	222;167	ENSP00000296679:Q222K;ENSP00000424287:Q167K	ENSP00000296679:Q222K	Q	-	1	0	WDR41	76781374	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.981000	0.88123	2.865000	0.98341	0.655000	0.94253	CAG	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	protein_coding	OTTHUMT00000220014.2	G	NM_018268	-		76745618	-1	no_errors	ENST00000296679	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76745618	G	T	76745618	3	4	228	1	0	0	0	0	1	0	0	0	17301	1357	47	3	739	3	WDR41	5	76745618	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		76745618	104169642	17	18347											
GFRA3	2676	genome.wustl.edu	37	chr5	137593567	137593567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggagcacgcctccccGtaggccttgcgcagccggtc	14	18	0	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	182					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652																																																	0								ENSG00000146013						29	31	30					5																	137593567		2203	4300	6503	GFRA3	SO:0001819	synonymous_variant	0			-	HGNC	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.546C>T	5.37:g.137593567G>A		Somatic	0	20	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	6	62.50	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP							pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.Y182	ENST00000274721.3	37	c.546	CCDS4201.1	5																																																																																			-	pfam_GDNF/GAS1,smart_GDNF/GAS1		0.652	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	protein_coding	OTTHUMT00000251277.1	G	NM_001496	-		137593567	-1	no_errors	ENST00000274721	ensembl	human	known	74_37	silent	SNP	0.602	A	A	137593567	G	A	137593567	2	1	228	1	0	0	0	0	0	0	0	1	6351	1140	40	1		1	GFRA3	5	137593567	Silent	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	60847949	137593567	43321693	18	18348											
PCDHGA7	56108	genome.wustl.edu	37	chr5	140763249	140763249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagtgggtacaagactGctcacggtacatgctatcga	12	10	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr5:140763249G>A	ENST00000518325.1	+	1	783	c.783G>A	c.(781-783)ctG>ctA	p.L261L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	261	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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACAAGACTGCTCACGGTAC	0.483																																																	0								ENSG00000253537						49	49	49					5																	140763249		2029	4188	6217	PCDHGA7	SO:0001819	synonymous_variant	0			-	HGNC	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.783G>A	5.37:g.140763249G>A		Somatic	0	66	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2RN87|Q9Y5D0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L261	ENST00000518325.1	37	c.783	CCDS54927.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.483	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	protein_coding	OTTHUMT00000374744.1	G	NM_018920	-		140763249	1	no_errors	ENST00000518325	ensembl	human	known	74_37	silent	SNP	0.001	A	A	140763249	G	A	140763249	2	1	228	1	0	0	0	0	0	0	0	1	11561	1306	46	2		2	PCDHGA7	5	140763249	Silent	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	3169682	140763249	40152011	19	18349											
SASH1	23328	genome.wustl.edu	37	chr6	148852780	148852780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcttcgcagttctctcaGtgggcagagctccatgagta	11	10	3	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr6:148852780G>A	ENST00000367467.3	+	13	2022	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	516					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGTTCTCTCAGTGGGCAGAGC	0.493																																																	0								ENSG00000111961						80	71	74					6																	148852780		2203	4300	6503	SASH1	SO:0001583	missense	0			-	HGNC	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1547G>A	6.37:g.148852780G>A	ENSP00000356437:p.Ser516Asn	Somatic	0	70	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	18	62.50	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP							pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.S516N	ENST00000367467.3	37	c.1547	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997660	0.93227	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.64991	-0.13	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.80746	2.51	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80939	-0.1158	10	0.72032	D	0.01	-18.095	19.0299	0.92952	0.0:0.0:1.0:0.0	.	497;516	Q6P4R9;O94885	.;SASH1_HUMAN	N	516;277	ENSP00000356437:S516N	ENSP00000356437:S516N	S	+	2	0	SASH1	148894473	1.000000	0.71417	0.972000	0.41901	0.950000	0.60333	9.476000	0.97823	2.503000	0.84419	0.655000	0.94253	AGT	-	pfam_rSAM/SH3_domain-containing		0.493	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	protein_coding	OTTHUMT00000042619.1	G	NM_015278	-		148852780	1	no_errors	ENST00000367467	ensembl	human	known	74_37	missense	SNP	1.000	A	A	148852780	G	A	148852780	3	1	228	1	0	0	0	0	1	0	0	0	13856	1029	36	2	1597	2	SASH1	6	148852780	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		148852780	22262287	20	18350											
PON3	5446	genome.wustl.edu	37	chr7	94992147	94992147	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgctacatcagctacataGacatacctttgaagtaaatg	7	9	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr7:94992147G>A	ENST00000265627.5	-	7	712	c.702C>T	c.(700-702)gtC>gtT	p.V234V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Silent_p.V234V	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	234					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.V234V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CAGCTACATAGACATACCTTT	0.373																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000105852						172	147	155					7																	94992147		2203	4300	6503	PON3	SO:0001819	synonymous_variant	0			-	HGNC	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.702C>T	7.37:g.94992147G>A		Somatic	0	56	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP							pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.V234	ENST00000265627.5	37	c.702	CCDS5639.1	7																																																																																			-	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase		0.373	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	protein_coding	OTTHUMT00000333007.1	G	NM_000940	-		94992147	-1	no_errors	ENST00000265627	ensembl	human	known	74_37	silent	SNP	1.000	A	A	94992147	G	A	94992147	2	1	228	1	0	0	0	0	0	0	0	1	12252	929	33	2		2	PON3	7	94992147	Silent	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		94992147	64146516	21	18351											
TRRAP	8295	genome.wustl.edu	37	chr7	98602905	98602905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcgtgtgttgcagctgCtgcgtctgctgaacccctgt	14	11	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr7:98602905C>T	ENST00000359863.4	+	68	10854	c.10645C>T	c.(10645-10647)Ctg>Ttg	p.L3549L	TRRAP_ENST00000355540.3_Silent_p.L3520L|TRRAP_ENST00000446306.3_Silent_p.L3538L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3549	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTTGCAGCTGCTGCGTCTGCT	0.557																																																	0								ENSG00000196367						95	86	89					7																	98602905		2203	4300	6503	TRRAP	SO:0001819	synonymous_variant	0			-	HGNC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10645C>T	7.37:g.98602905C>T		Somatic	0	36	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP							pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L3549	ENST00000359863.4	37	c.10645	CCDS59066.1	7																																																																																			-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	C	NM_003496	-		98602905	1	no_errors	ENST00000359863	ensembl	human	known	74_37	silent	SNP	1.000	T	T	98602905	C	T	98602905	2	4	228	1	0	0	0	0	0	0	0	1	16608	796	28	2		2	TRRAP	7	98602905	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	3610758	98602905	60535758	22	18352											
KEL	3792	genome.wustl.edu	37	chr7	142638486	142638486	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagagtcctgggggctgggCttcctacacatcacctgagc	13	12	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr7:142638486C>G	ENST00000355265.2	-	19	2526	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	684					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGGCTGGGCTTCCTACACA	0.612																																																	0								ENSG00000197993						91	94	93					7																	142638486		2203	4300	6503	KEL	SO:0001583	missense	0			-	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2052G>C	7.37:g.142638486C>G	ENSP00000347409:p.Lys684Asn	Somatic	0	47	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.K684N	ENST00000355265.2	37	c.2052	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	c	2.992	-0.207865	0.06180	.	.	ENSG00000197993	ENST00000355265	D	0.91464	-2.85	4.86	-0.652	0.11450	Peptidase M13, neprilysin, C-terminal (1);	1.740460	0.02785	N	0.121428	T	0.77705	0.4170	N	0.10629	0.01	0.09310	N	1	B	0.15473	0.013	B	0.19148	0.024	T	0.65179	-0.6231	10	0.22706	T	0.39	-20.206	0.6914	0.00892	0.333:0.3135:0.1601:0.1934	.	684	P23276	KELL_HUMAN	N	684	ENSP00000347409:K684N	ENSP00000347409:K684N	K	-	3	2	KEL	142348608	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.366000	0.02585	0.013000	0.14918	0.651000	0.88453	AAG	-	pfam_Peptidase_M13_C		0.612	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	C	NM_000420	-		142638486	-1	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	SNP	0.000	G	G	142638486	C	G	142638486	3	3	228	1	0	0	0	0	1	0	0	0	8144	796	28	4	150	4	KEL	7	142638486	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	44035581	142638486	16500177	23	18353											
PRDM14	63978	genome.wustl.edu	37	chr8	70964471	70964471	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagatttaccacagtacttGcatttgaagggcttctcccc	7	11	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr8:70964471G>T	ENST00000276594.2	-	8	1758	c.1557C>A	c.(1555-1557)tgC>tgA	p.C519*		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	519					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACAGTACTTGCATTTGAAGG	0.517																																					NSCLC(129;99 1813 5906 40656 46114)												0								ENSG00000147596						158	147	151					8																	70964471		2203	4300	6503	PRDM14	SO:0001587	stop_gained	0			-	HGNC	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1557C>A	8.37:g.70964471G>T	ENSP00000276594:p.Cys519*	Somatic	0	35	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q86UX9	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C519*	ENST00000276594.2	37	c.1557	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.646192	0.98409	.	.	ENSG00000147596	ENST00000276594	.	.	.	6.08	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.9791	12.3226	0.54993	0.135:0.0:0.865:0.0	.	.	.	.	X	519	.	ENSP00000276594:C519X	C	-	3	2	PRDM14	71127025	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.815000	0.48018	1.590000	0.49995	0.655000	0.94253	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	protein_coding	OTTHUMT00000318505.1	G		-		70964471	-1	no_errors	ENST00000276594	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	70964471	G	T	70964471	4	4	228	1	0	0	0	0	0	1	0	0	12460	1311	46	3	162	3	PRDM14	8	70964471	Nonsense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		70964471	75399551	24	18354											
TOPORS	10210	genome.wustl.edu	37	chr9	32543162	32543162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttgtatctgagacgtgGctcctcctgtgacaagttct	9	12	2	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr9:32543162G>T	ENST00000360538.2	-	3	1477	c.1361C>A	c.(1360-1362)gCc>gAc	p.A454D	TOPORS_ENST00000379858.1_Missense_Mutation_p.A389D	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	454	Interaction with SUMO1.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|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)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTGAGACGTGGCTCCTCCTGT	0.403																																																	0								ENSG00000197579						143	129	134					9																	32543162		2203	4300	6503	TOPORS	SO:0001583	missense	0			-	HGNC	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1361C>A	9.37:g.32543162G>T	ENSP00000353735:p.Ala454Asp	Somatic	0	50	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A454D	ENST00000360538.2	37	c.1361	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	0.844	-0.740878	0.03088	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15718	2.4;2.41	5.83	4.94	0.65067	.	0.826651	0.10440	N	0.674366	T	0.12178	0.0296	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21314	-1.0249	10	0.38643	T	0.18	0.1331	8.9182	0.35594	0.0757:0.0:0.7766:0.1477	.	454	Q9NS56	TOPRS_HUMAN	D	454;389	ENSP00000353735:A454D;ENSP00000369187:A389D	ENSP00000353735:A454D	A	-	2	0	TOPORS	32533162	0.127000	0.22367	0.605000	0.28930	0.026000	0.11368	2.407000	0.44565	1.481000	0.48307	0.644000	0.83932	GCC	-	NULL		0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	protein_coding	OTTHUMT00000052007.1	G	NM_005802	-		32543162	-1	no_errors	ENST00000360538	ensembl	human	known	74_37	missense	SNP	0.001	T	T	32543162	G	T	32543162	3	4	228	1	0	0	0	0	1	0	0	0	16377	1203	42	3	1780	3	TOPORS	9	32543162	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		32543162	108670269	25	18355											
TLE4	7091	genome.wustl.edu	37	chr9	82323521	82323521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttgcagcctcaagcctaagGaccccaatggcagtaccttg	9	13	1	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr9:82323521G>T	ENST00000376552.2	+	13	2101	c.1083G>T	c.(1081-1083)agG>agT	p.R361S	TLE4_ENST00000376544.3_Missense_Mutation_p.R292S|TLE4_ENST00000376537.4_Missense_Mutation_p.R393S|TLE4_ENST00000376520.4_Missense_Mutation_p.R393S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.R336S	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAAGCCTAAGGACCCCAATGG	0.473																																																	0								ENSG00000106829						128	130	129					9																	82323521		1972	4179	6151	TLE4	SO:0001583	missense	0			-	HGNC	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1083G>T	9.37:g.82323521G>T	ENSP00000365735:p.Arg361Ser	Somatic	0	52	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP							pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R393S	ENST00000376552.2	37	c.1179	CCDS43837.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.26|18.26|18.26	3.584338|3.584338|3.584338	0.65992|0.65992|0.65992	.|.|.	.|.|.	ENSG00000106829|ENSG00000106829|ENSG00000106829	ENST00000496114|ENST00000417836|ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000490347;ENST00000467142	.|.|T;T;T;T;T;T;T	.|.|0.56611	.|.|0.8;0.93;0.93;0.93;0.89;1.38;0.45	6.16|6.16|6.16	2.97|2.97|2.97	0.34412|0.34412|0.34412	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.66723|0.66723|0.66723	0.2818|0.2818|0.2818	M|M|M	0.72479|0.72479|0.72479	2.2|2.2|2.2	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;D;P;B	.|.|0.57899	.|.|0.197;0.981;0.712;0.233	.|.|B;D;P;B	.|.|0.66351	.|.|0.127;0.943;0.559;0.081	T|T|T	0.66384|0.66384|0.66384	-0.5937|-0.5937|-0.5937	5|5|10	.|.|0.40728	.|.|T	.|.|0.16	-29.3035|-29.3035|-29.3035	11.8822|11.8822|11.8822	0.52581|0.52581|0.52581	0.2638:0.0:0.7362:0.0|0.2638:0.0:0.7362:0.0|0.2638:0.0:0.7362:0.0	.|.|.	.|.|336;292;393;361	.|.|F8W6T6;Q04727-2;Q04727-3;Q04727	.|.|.;.;.;TLE4_HUMAN	Y|V|S	152|126|361;292;393;393;336;180;89	.|.|ENSP00000365735:R361S;ENSP00000365727:R292S;ENSP00000365703:R393S;ENSP00000365720:R393S;ENSP00000265284:R336S;ENSP00000417844:R180S;ENSP00000418409:R89S	.|.|ENSP00000265284:R336S	D|G|R	+|+|+	1|2|3	0|0|2	TLE4|TLE4|TLE4	81513341|81513341|81513341	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.997000|0.997000|0.997000	0.29731|0.29731|0.29731	0.954000|0.954000|0.954000	0.37851|0.37851|0.37851	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	GAC|GGA|AGG	-	NULL		0.473	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	protein_coding	OTTHUMT00000052792.4	G	XM_212237	-		82323521	1	no_errors	ENST00000376520	ensembl	human	known	74_37	missense	SNP	0.998	T	T	82323521	G	T	82323521	3	4	228	1	0	0	0	0	1	0	0	0	15948	1165	41	3	1133	3	TLE4	9	82323521	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	49780359	82323521	58889910	26	18356											
CEP110	11064	genome.wustl.edu	37	chr9	123924170	123924170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgttgcaacttgaaaAccatgagctacaaggtttga	10	7	0	3			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr9:123924170A>G	ENST00000373855.1	+	33	5386	c.5126A>G	c.(5125-5127)aAc>aGc	p.N1709S	CNTRL_ENST00000373850.1_Missense_Mutation_p.N1157S|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.N1709S			Q7Z7A1	CNTRL_HUMAN	centriolin	1709					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAACTTGAAAACCATGAGCTA	0.373																																																	0								ENSG00000119397						92	92	92					9																	123924170		2203	4300	6503	CNTRL	SO:0001583	missense	0			-	HGNC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5126A>G	9.37:g.123924170A>G	ENSP00000362962:p.Asn1709Ser	Somatic	0	66	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	59	25.32	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.N1709S	ENST00000373855.1	37	c.5126	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225468	0.39300	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373845	T;T;T	0.28255	1.62;1.62;1.62	6.02	1.12	0.20585	.	.	.	.	.	T	0.19725	0.0474	L	0.42245	1.32	0.30721	N	0.748279	B	0.21071	0.051	B	0.15052	0.012	T	0.34354	-0.9832	9	0.09843	T	0.71	.	5.8476	0.18675	0.6558:0.1351:0.2091:0.0	.	1709	Q7Z7A1	CNTRL_HUMAN	S	1709;1709;1709;465;1157;391	ENSP00000362962:N1709S;ENSP00000238341:N1709S;ENSP00000362956:N1157S	ENSP00000238341:N1709S	N	+	2	0	CNTRL	122963991	0.920000	0.31207	0.994000	0.49952	0.978000	0.69477	0.816000	0.27267	0.166000	0.19597	0.533000	0.62120	AAC	-	NULL		0.373	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	protein_coding	OTTHUMT00000250216.1	A	NM_007018	-		123924170	1	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	SNP	0.995	G	G	123924170	A	G	123924170	3	3	228	1	0	0	0	0	1	0	0	0	3247	43	2	5	5248	5	CEP110	9	123924170	Missense_Mutation	SNP	A	TCGA-WK-A8Y0-01A-11D-A417-09	41600649	123924170	17289261	27	18357											
HKDC1	80201	genome.wustl.edu	37	chr10	71025434	71025434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtggtgaaggaggtgtgCggagccgtgtcccggcgggc	20	9	0	1	rs373165480		TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr10:71025434C>T	ENST00000354624.5	+	17	2599	c.2466C>T	c.(2464-2466)tgC>tgT	p.C822C	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	822	Hexokinase type-2 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)			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						AGGAGGTGTGCGGAGCCGTGT	0.642													C|||	1	0.000199681	0	0	5008	,	,		16556	0		0	False		,,,				2504	0.001																0								ENSG00000156510						58	55	56					10																	71025434		2203	4299	6502	HKDC1	SO:0001819	synonymous_variant	0			-	HGNC		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.2466C>T	10.37:g.71025434C>T		Somatic	0	63	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP							pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.C822	ENST00000354624.5	37	c.2466	CCDS7288.1	10																																																																																			-	pfam_Hexokinase_C,prints_Hexokinase		0.642	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	protein_coding	OTTHUMT00000048389.1	C	NM_025130	-		71025434	1	no_errors	ENST00000354624	ensembl	human	known	74_37	silent	SNP	0.996	T	T	71025434	C	T	71025434	2	4	228	1	0	0	0	0	0	0	0	1	7195	776	27	1		1	HKDC1	10	71025434	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		71025434	64509313	28	18358											
PTEN	5728	genome.wustl.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	14	4	0	1	rs121913292|rs121909229		TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	ENSG00000171862						139	129	133					10																	89692905		2203	4300	6503	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	Somatic	0	122	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	34	66.00	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	G	NM_000314	rs121909229		89692905	1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89692905	G	A	89692905	3	1	228	1	0	0	0	0	1	0	0	0	12743	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	18667471	89692905	45841842	29	18359											
MKI67	4288	genome.wustl.edu	37	chr10	129905112	129905113	+	Frame_Shift_Del	DEL	TG	TG	-													ttaccatctcctgttggctcTgtgtgtgtgtgtgtagtctc					rs145960091		TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr10:129905112_129905113delTG	ENST00000368654.3	-	13	5366_5367	c.4991_4992delCA	c.(4990-4992)acafs	p.T1664fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.T1304fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1664	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTTGGCTCTGTGTGTGTGTG	0.51																																																	0								ENSG00000148773																																			MKI67	SO:0001589	frameshift_variant	0				HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4991_4992delCA	10.37:g.129905122_129905123delTG	ENSP00000357643:p.Thr1664fs	Somatic	0	46	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q5VWH2	Frame_Shift_Del	DEL							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T1664fs	ENST00000368654.3	37	c.4992_4991	CCDS7659.1	10																																																																																			-	pfam_K167R		0.51	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	TG	NM_002417			129905113	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000	-	-	129905113	TG	-	129905112	7	5	228	1	0	1	0	1	0	0	0	0	9600	1567	55	0	4790	0	MKI67	10	129905112	Frame_Shift_Del	DEL	TG	TCGA-WK-A8Y0-01A-11D-A417-09	40212207	129905112	5629635	30	18360											
PICALM	8301	genome.wustl.edu	37	chr11	85714464	85714464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaggaagctaaatgttGttccaaagcatcaagaagac	8	8	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr11:85714464G>T	ENST00000393346.3	-	9	986	c.838C>A	c.(838-840)Caa>Aaa	p.Q280K	PICALM_ENST00000532317.1_Missense_Mutation_p.Q280K|PICALM_ENST00000356360.5_Missense_Mutation_p.Q280K|PICALM_ENST00000528398.1_Missense_Mutation_p.Q229K|PICALM_ENST00000526033.1_Missense_Mutation_p.Q280K			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	280	Interaction with FAM64A.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GCTAAATGTTGTTCCAAAGCA	0.363			T	"MLLT10, MLL"	"TALL, AML, "																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0								ENSG00000073921						94	92	92					11																	85714464		2203	4299	6502	PICALM	SO:0001583	missense	0			-	HGNC	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.838C>A	11.37:g.85714464G>T	ENSP00000377015:p.Gln280Lys	Somatic	0	28	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP							pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q280K	ENST00000393346.3	37	c.838	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.507437	0.96386	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.7	5.7	0.88788	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.78637	2.42	0.80722	D	1	P;D;P;D	0.65815	0.931;0.995;0.771;0.991	P;D;P;D	0.77004	0.883;0.989;0.556;0.985	T	0.67221	-0.5725	9	.	.	.	-8.1117	19.8424	0.96695	0.0:0.0:1.0:0.0	.	229;280;280;280	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	K	280;280;280;280;229;280	ENSP00000436958:Q280K;ENSP00000433846:Q280K;ENSP00000377015:Q280K;ENSP00000434884:Q229K;ENSP00000348718:Q280K	.	Q	-	1	0	PICALM	85392112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.673000	0.90976	0.655000	0.94253	CAA	-	pfam_ANTH_dom		0.363	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	protein_coding	OTTHUMT00000392224.1	G	NM_007166	-		85714464	-1	no_errors	ENST00000393346	ensembl	human	known	74_37	missense	SNP	1.000	T	T	85714464	G	T	85714464	3	4	228	1	0	0	0	0	1	0	0	0	11882	1386	48	3	1196	3	PICALM	11	85714464	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		85714464	49292052	31	18361											
IFT46	56912	genome.wustl.edu	37	chr11	118427748	118427750	+	In_Frame_Del	DEL	TCT	TCT	-													ttgaggtgtcaactgtgaggTcttcttcttctcctgtgata					rs374705299|rs144091431|rs548333275	byFrequency	TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr11:118427748_118427750delTCT	ENST00000264021.3	-	4	474_476	c.56_58delAGA	c.(55-60)aagacc>acc	p.K19del	IFT46_ENST00000264020.2_In_Frame_Del_p.K70del|IFT46_ENST00000530872.1_In_Frame_Del_p.K70del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	19				K -> E (in Ref. 3; BAB15146). {ECO:0000305}.	cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AACTGTGAGGTCTTCTTCTTCTC	0.414														58	0.0115815	0.0393	0.0058	5008	,	,		20075	0		0.002	False		,,,				2504	0																0								ENSG00000118096		,	157,4107		1,155,1976					,	3.5	0.9		dbSNP_134	149	3,8251		0,3,4124	no	coding,coding	IFT46	NM_020153.3,NM_001168618.1	,	1,158,6100	A1A1,A1R,RR		0.0363,3.682,1.2782	,	,		160,12358				IFT46	SO:0001651	inframe_deletion	0				HGNC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.56_58delAGA	11.37:g.118427757_118427759delTCT	ENSP00000264021:p.Lys19del	Somatic	0	39	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	A8K0F6|Q9H6V5	In_Frame_Del	DEL							pfam_Intraflagellar_transp_cmplxB	p.K70in_frame_del	ENST00000264021.3	37	c.211_209	CCDS53718.1	11																																																																																			-	NULL		0.414	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	protein_coding	OTTHUMT00000389627.1	TCT	NM_020153			118427750	-1	no_errors	ENST00000264020	ensembl	human	known	74_37	in_frame_del	DEL	0.041:0.879:0.998	-	-	118427750	TCT	-	118427748	7	5	228	1	0	1	0	1	0	0	0	0	7562	1667	58	0	892	0	IFT46	11	118427748	In_Frame_Del	DEL	TCT	TCGA-WK-A8Y0-01A-11D-A417-09	32713284	118427748	16578768	32	18362											
ANO2	57101	genome.wustl.edu	37	chr12	5908718	5908718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagaacactccatagcgcGcccattcttgatatagcagc	7	12	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr12:5908718G>A	ENST00000356134.5	-	11	1072	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	ANO2_ENST00000546188.1_Missense_Mutation_p.A334V|ANO2_ENST00000327087.8_Missense_Mutation_p.A333V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	338					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						TCCATAGCGCGCCCATTCTTG	0.418																																																	0								ENSG00000047617						76	69	71					12																	5908718		1855	4110	5965	ANO2	SO:0001583	missense	0			-	HGNC	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.1001C>T	12.37:g.5908718G>A	ENSP00000348453:p.Ala334Val	Somatic	0	94	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	C4N787|Q9H847	Missense_Mutation	SNP							pfam_Anoctamin	p.A334V	ENST00000356134.5	37	c.1001		12	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845190	0.71603	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70282	-0.47;-0.47;-0.47	5.92	5.92	0.95590	.	0.050707	0.85682	D	0.000000	D	0.89584	0.6757	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.91836	0.5479	10	0.87932	D	0	.	19.3181	0.94224	0.0:0.0:1.0:0.0	.	333	Q9NQ90-3	.	V	333;334;334;338	ENSP00000314048:A333V;ENSP00000348453:A334V;ENSP00000440981:A334V	ENSP00000314048:A333V	A	-	2	0	ANO2	5778979	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	6.845000	0.75394	2.810000	0.96702	0.585000	0.79938	GCG	-	NULL		0.418	ANO2-001	KNOWN	basic	protein_coding	ANO2	protein_coding	OTTHUMT00000399019.4	G	NM_020373	-		5908718	-1	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5908718	G	A	5908718	3	1	228	1	0	0	0	0	1	0	0	0	697	1087	38	1	2066	1	ANO2	12	5908718	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09		5908718	127943177	33	18363											
CDK2	1017	genome.wustl.edu	37	chr12	56365351	56365351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatttcggccaaggcagCcctggctcaccctttcttcc	10	16	2	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr12:56365351C>T	ENST00000266970.4	+	7	1079	c.839C>T	c.(838-840)gCc>gTc	p.A280V	CDK2_ENST00000556656.1_3'UTR|RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000440311.2_Missense_Mutation_p.A220V|RAB5B_ENST00000448789.2_5'Flank|CDK2_ENST00000354056.4_Missense_Mutation_p.A246V|CDK2_ENST00000553376.1_Missense_Mutation_p.A328V|RAB5B_ENST00000553116.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	GCCAAGGCAGCCCTGGCTCAC	0.527																																																	0								ENSG00000123374						150	130	137					12																	56365351		2203	4300	6503	CDK2	SO:0001583	missense	0			-	HGNC	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.839C>T	12.37:g.56365351C>T	ENSP00000266970:p.Ala280Val	Somatic	0	33	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K7C6|O75100	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A280V	ENST00000266970.4	37	c.839	CCDS8898.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.568408	0.96540	.	.	ENSG00000123374	ENST00000266970;ENST00000553376;ENST00000440311;ENST00000354056	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.37	5.37	0.77165	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	0.67325	0.2881	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.67900	0.954;0.947;0.931	T	0.69767	-0.5056	10	0.87932	D	0	-12.9933	18.2571	0.90023	0.0:1.0:0.0:0.0	.	220;246;280	E7ESI2;P24941-2;P24941	.;.;CDK2_HUMAN	V	280;328;220;246	ENSP00000266970:A280V;ENSP00000452514:A328V;ENSP00000393605:A220V;ENSP00000243067:A246V	ENSP00000266970:A280V	A	+	2	0	CDK2	54651618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.805000	0.86005	2.688000	0.91661	0.591000	0.81541	GCC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.527	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	protein_coding	OTTHUMT00000409650.1	C		-		56365351	1	no_errors	ENST00000266970	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56365351	C	T	56365351	3	4	228	1	0	0	0	0	1	0	0	0	3138	739	26	2	865	2	CDK2	12	56365351	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	50456633	56365351	77486544	34	18364											
C12orf42	374470	genome.wustl.edu	37	chr12	103699894	103699894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agttgttccaaaaatgaactGttccaagcctgcttgggtgc	10	9	0	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr12:103699894G>C	ENST00000378113.2	-	5	714	c.489C>G	c.(487-489)aaC>aaG	p.N163K	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.N163K|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.N96K	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	163										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAAATGAACTGTTCCAAGCCT	0.488																																																	0								ENSG00000179088						76	78	78					12																	103699894		1903	4120	6023	C12orf42	SO:0001583	missense	0			-	HGNC	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.489C>G	12.37:g.103699894G>C	ENSP00000367353:p.Asn163Lys	Somatic	0	91	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	63	16.00	Q49A64|Q4G0S2	Missense_Mutation	SNP							NULL	p.N163K	ENST00000378113.2	37	c.489	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833404	0.16820	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.98	2.16	0.27623	.	1.102310	0.07096	N	0.839648	T	0.24470	0.0593	N	0.19112	0.55	0.09310	N	1	P	0.38020	0.615	B	0.31547	0.132	T	0.14337	-1.0476	10	0.30854	T	0.27	-0.0034	6.5126	0.22230	0.218:0.0:0.782:0.0	.	163	Q96LP6	CL042_HUMAN	K	163;96;163;163	ENSP00000447908:N163K;ENSP00000449362:N96K;ENSP00000367353:N163K;ENSP00000447795:N163K	ENSP00000367353:N163K	N	-	3	2	C12orf42	102224024	0.001000	0.12720	0.050000	0.19076	0.011000	0.07611	0.180000	0.16860	0.669000	0.31146	0.549000	0.68633	AAC	-	NULL		0.488	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	protein_coding	OTTHUMT00000406754.1	G	NM_198521	-		103699894	-1	no_errors	ENST00000378113	ensembl	human	known	74_37	missense	SNP	0.051	C	C	103699894	G	C	103699894	3	2	228	1	0	0	0	0	1	0	0	0	1690	1368	48	4	601	4	C12orf42	12	103699894	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	47334543	103699894	30152001	35	18365											
RB1	5925	genome.wustl.edu	37	chr13	49027153	49027156	+	Frame_Shift_Del	DEL	AAAC	AAAC	-													cacctttatttgatcttattAaacaatcaaaggaccgagaa					rs587778864		TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	AAAC	AAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr13:49027153_49027156delAAAC	ENST00000267163.4	+	18	1858_1861	c.1720_1723delAAAC	c.(1720-1725)aaacaafs	p.KQ574fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	574	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.Q575fs*35(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGATCTTATTAAACAATCAAAGGA	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(10)|Deletion - Frameshift(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CM961232	RB1	M		ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1720_1723delAAAC	13.37:g.49027153_49027156delAAAC	ENSP00000267163:p.Lys574fs	Somatic	0	100	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	42	46.15	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.K574fs	ENST00000267163.4	37	c.1720_1723	CCDS31973.1	13																																																																																			-	superfamily_Cyclin-like		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	AAAC				49027156	1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	49027156	AAAC	-	49027153	7	5	228	1	0	1	0	1	0	0	0	0	13106	363	13	0	1790	0	RB1	13	49027153	Frame_Shift_Del	DEL	AAAC	TCGA-WK-A8Y0-01A-11D-A417-09		49027153	66142725	36	18366											
RNASE2	6036	genome.wustl.edu	37	chr14	21424381	21424381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacgagaccctccacagtatCcggtggttccagttcacctg	10	14	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr14:21424381C>A	ENST00000304625.2	+	2	541	c.451C>A	c.(451-453)Ccg>Acg	p.P151T		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	151					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCCACAGTATCCGGTGGTTCC	0.463																																																	0								ENSG00000169385						129	126	127					14																	21424381		2203	4300	6503	RNASE2	SO:0001583	missense	0			-	HGNC	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.451C>A	14.37:g.21424381C>A	ENSP00000303276:p.Pro151Thr	Somatic	0	64	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	58	9.38	Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.P151T	ENST00000304625.2	37	c.451	CCDS9561.1	14	.	.	.	.	.	.	.	.	.	.	c	11.54	1.669185	0.29604	.	.	ENSG00000169385	ENST00000304625	T	0.72942	-0.7	2.88	-3.52	0.04682	Ribonuclease A, domain (4);	1.043280	0.07647	U	0.931348	T	0.79873	0.4521	M	0.87682	2.9	0.09310	N	1	D	0.69078	0.997	D	0.66716	0.946	T	0.67856	-0.5562	10	0.87932	D	0	.	0.6975	0.00902	0.1717:0.2588:0.1694:0.4001	.	151	P10153	RNAS2_HUMAN	T	151	ENSP00000303276:P151T	ENSP00000303276:P151T	P	+	1	0	RNASE2	20494221	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.166000	0.03129	-0.900000	0.03896	-0.384000	0.06662	CCG	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.463	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE2	protein_coding	OTTHUMT00000073799.2	C		-		21424381	1	no_errors	ENST00000304625	ensembl	human	known	74_37	missense	SNP	0.000	A	A	21424381	C	A	21424381	3	1	228	1	0	0	0	0	1	0	0	0	13412	855	30	3	453	3	RNASE2	14	21424381	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		21424381	85925159	37	18367											
FSCB	84075	genome.wustl.edu	37	chr14	44976143	44976143	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgattttggtatggccatGtgtttctttttctctattac	8	6	2	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr14:44976143G>C	ENST00000340446.4	-	1	339	c.48C>G	c.(46-48)caC>caG	p.H16Q	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	16						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTATGGCCATGTGTTTCTTTT	0.428																																																	0								ENSG00000189139						286	269	275					14																	44976143		2203	4300	6503	FSCB	SO:0001583	missense	0			-	HGNC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.48C>G	14.37:g.44976143G>C	ENSP00000344579:p.His16Gln	Somatic	0	76	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	58	23.68	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP							NULL	p.H16Q	ENST00000340446.4	37	c.48	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	0.624	-0.819838	0.02776	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12672	2.66	5.49	-2.18	0.07037	.	.	.	.	.	T	0.06234	0.0161	L	0.28115	0.83	0.09310	N	1	B	0.33841	0.428	B	0.29077	0.098	T	0.34403	-0.9830	9	0.26408	T	0.33	3.7506	1.0853	0.01651	0.2847:0.2678:0.3108:0.1367	.	16	Q5H9T9	FSCB_HUMAN	Q	16	ENSP00000344579:H16Q	ENSP00000344579:H16Q	H	-	3	2	FSCB	44045893	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.236000	0.09003	-0.258000	0.09446	0.555000	0.69702	CAC	-	NULL		0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	protein_coding	OTTHUMT00000276788.1	G	NM_032135	-		44976143	-1	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	SNP	0.000	C	C	44976143	G	C	44976143	3	2	228	1	0	0	0	0	1	0	0	0	6068	1368	48	4	2433	4	FSCB	14	44976143	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	23551762	44976143	62373397	38	18368											
GPR135	64582	genome.wustl.edu	37	chr14	59931123	59931123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccacgctgaaggccgcGcccagctgcgcggggtccgg	16	17	0	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr14:59931123G>A	ENST00000395116.1	-	1	937	c.822C>T	c.(820-822)ggC>ggT	p.G274G		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGAAGGCCGCGCCCAGCTGCG	0.711																																																	0								ENSG00000181619						7	7	7					14																	59931123		2080	4126	6206	GPR135	SO:0001819	synonymous_variant	0			-	HGNC	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.822C>T	14.37:g.59931123G>A		Somatic	0	15	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	Q7Z604|Q86SM3|Q8NH39	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G274	ENST00000395116.1	37	c.822	CCDS9738.1	14																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.711	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR135	protein_coding	OTTHUMT00000276941.1	G	NM_022571	-		59931123	-1	no_errors	ENST00000395116	ensembl	human	known	74_37	silent	SNP	0.958	A	A	59931123	G	A	59931123	2	1	228	1	0	0	0	0	0	0	0	1	6646	1074	38	1		1	GPR135	14	59931123	Silent	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	14954980	59931123	47418417	39	18369											
GOLGA5	9950	genome.wustl.edu	37	chr14	93264116	93264116	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcatcccattttgtgCgaagaaaaaagtcagaacct	8	10	2	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr14:93264116C>T	ENST00000163416.2	+	2	590	c.334C>T	c.(334-336)Cga>Tga	p.R112*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.R112*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	112					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCATTTTGTGCGAAGAAAAAA	0.453			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"		E	0								ENSG00000066455						93	91	91					14																	93264116		2203	4300	6503	GOLGA5	SO:0001587	stop_gained	0			-	HGNC	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.334C>T	14.37:g.93264116C>T	ENSP00000163416:p.Arg112*	Somatic	0	27	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Nonsense_Mutation	SNP							pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.R112*	ENST00000163416.2	37	c.334	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.915931	0.97932	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	.	.	.	5.45	3.46	0.39613	.	0.000000	0.40385	N	0.001118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.7303	13.7434	0.62862	0.4246:0.5754:0.0:0.0	.	.	.	.	X	112	.	ENSP00000163416:R112X	R	+	1	2	GOLGA5	92333869	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.366000	0.52343	1.393000	0.46605	0.655000	0.94253	CGA	-	NULL		0.453	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	protein_coding	OTTHUMT00000412365.1	C		-		93264116	1	no_errors	ENST00000163416	ensembl	human	known	74_37	nonsense	SNP	0.998	T	T	93264116	C	T	93264116	4	4	228	1	0	0	0	0	0	1	0	0	6558	760	27	1	336	1	GOLGA5	14	93264116	Nonsense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	33332993	93264116	14085424	40	18370											
BCMO1	53630	genome.wustl.edu	37	chr16	81323975	81323975	+	Silent	SNP	C	C	T													gtaatcttatcagccattgtCtctactgatccccaaaagct							TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr16:81323975C>T	ENST00000258168.2	+	11	1898	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	BCMO1_ENST00000425577.2_Silent_p.V410V	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAGCCATTGTCTCTACTGATC	0.448																																																	0								ENSG00000135697						77	73	75					16																	81323975		2202	4300	6502	BCMO1	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000258168.2:c.1437C>T	16.37:g.81323975C>T		Somatic	0	67	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	51	12.07		Silent	SNP							pfam_Carotenoid_Oase	p.V479	ENST00000258168.2	37	c.1437	CCDS10934.1	16																																																																																			-	pfam_Carotenoid_Oase		0.448	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	protein_coding	OTTHUMT00000269056.1	C		-		81323975	1	no_errors	ENST00000258168	ensembl	human	known	74_37	silent	SNP	0.992	T	T	81323975	C	T	81323975	2	4	228	1	0	0	0	0	0	0	0	1	1384	900	32	2		2	BCMO1	16	81323975	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		81323975	9030778	41	18371	489	2									
BCMO1	53630	genome.wustl.edu	37	chr16	81323977	81323977	+	Missense_Mutation	SNP	C	C	T													aatcttatcagccattgtctCtactgatccccaaaagctgc							TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr16:81323977C>T	ENST00000258168.2	+	11	1900	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	BCMO1_ENST00000425577.2_Missense_Mutation_p.S411F	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GCCATTGTCTCTACTGATCCC	0.448																																																	0								ENSG00000135697						77	74	75					16																	81323977		2202	4300	6502	BCMO1	SO:0001583	missense	0			-	HGNC																												ENST00000258168.2:c.1439C>T	16.37:g.81323977C>T	ENSP00000258168:p.Ser480Phe	Somatic	0	66	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	47	12.96		Missense_Mutation	SNP							pfam_Carotenoid_Oase	p.S480F	ENST00000258168.2	37	c.1439	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552627	0.86127	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95001	-3.58;-3.58	6.0	6.0	0.97389	.	0.256761	0.39909	N	0.001227	D	0.97324	0.9125	M	0.80028	2.48	0.44762	D	0.997763	D;D	0.71674	0.998;0.988	D;P	0.71414	0.973;0.888	D	0.97323	0.9945	10	0.72032	D	0.01	-26.1679	19.331	0.94288	0.0:1.0:0.0:0.0	.	411;480	E7EM88;Q9HAY6	.;BCDO1_HUMAN	F	480;411	ENSP00000258168:S480F;ENSP00000400586:S411F	ENSP00000258168:S480F	S	+	2	0	BCMO1	79881478	0.999000	0.42202	0.889000	0.34880	0.927000	0.56198	4.427000	0.59888	2.868000	0.98415	0.555000	0.69702	TCT	-	pfam_Carotenoid_Oase		0.448	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	protein_coding	OTTHUMT00000269056.1	C		-		81323977	1	no_errors	ENST00000258168	ensembl	human	known	74_37	missense	SNP	0.997	T	T	81323977	C	T	81323977	3	4	228	1	0	0	0	0	1	0	0	0	1384	913	32	2	1481	2	BCMO1	16	81323977	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	2	81323977	9030776	42	18372	489	2									
SLC16A11	162515	genome.wustl.edu	37	chr17	6946879	6946879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagagaagcctccacgcCtgtgcttccgctggggagct	14	12	0	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr17:6946879C>A	ENST00000308009.1	-	1	363	c.26G>T	c.(25-27)aGg>aTg	p.R9M	SLC16A11_ENST00000447225.1_De_novo_Start_InFrame	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	9					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GCCTCCACGCCTGTGCTTCCG	0.731																																																	0								ENSG00000174326						16	21	19					17																	6946879		1915	3954	5869	SLC16A11	SO:0001583	missense	0			-	HGNC	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.26G>T	17.37:g.6946879C>A	ENSP00000310490:p.Arg9Met	Somatic	0	11	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67		Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R9M	ENST00000308009.1	37	c.26	CCDS11086.1	17	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513816	0.64522	.	.	ENSG00000174326	ENST00000308009	T	0.07444	3.19	5.31	5.31	0.75309	.	5.956090	0.00357	N	0.000025	T	0.09113	0.0225	N	0.08118	0	0.47341	D	0.999391	P	0.39576	0.679	B	0.40702	0.338	T	0.31110	-0.9955	10	0.48119	T	0.1	.	14.8698	0.70448	0.0:1.0:0.0:0.0	.	9	Q8NCK7	MOT11_HUMAN	M	9	ENSP00000310490:R9M	ENSP00000310490:R9M	R	-	2	0	SLC16A11	6887603	0.001000	0.12720	0.006000	0.13384	0.033000	0.12548	1.397000	0.34543	2.658000	0.90341	0.485000	0.47835	AGG	-	NULL		0.731	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	protein_coding	OTTHUMT00000219921.1	C	NM_153357	-		6946879	-1	no_errors	ENST00000308009	ensembl	human	known	74_37	missense	SNP	0.009	A	A	6946879	C	A	6946879	3	1	228	1	0	0	0	0	1	0	0	0	14412	681	24	3	1405	3	SLC16A11	17	6946879	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		6946879	74248331	43	18373											
TP53	7157	genome.wustl.edu	37	chr17	7574025	7574025	+	Frame_Shift_Del	DEL	C	C	-													aacatctcgaagcgctcacgCccacggatctgcagcaacag							TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr17:7574025delC	ENST00000269305.4	-	10	1191	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.G334fs|TP53_ENST00000420246.2_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	334	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.I332fs*5(1)|p.?(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)	AGCGCTCACGCCCACGGATCT	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	10	Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|large_intestine(1)|stomach(1)						ENSG00000141510						51	40	44					17																	7574025		2203	4300	6503	TP53	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;		HGNC	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.1002delG	17.37:g.7574025delC	ENSP00000269305:p.Gly334fs	Somatic	0	30	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	7	58.82	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R335fs	ENST00000269305.4	37	c.1002	CCDS11118.1	17																																																																																			-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546			7574025	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	0.879	-	-	7574025	C	-	7574025	7	5	228	1	0	1	0	1	0	0	0	0	16388	726	26	0	187	0	TP53	17	7574025	Frame_Shift_Del	DEL	C	TCGA-WK-A8Y0-01A-11D-A417-09	627146	7574025	73621185	44	18374											
DNAH9	1770	genome.wustl.edu	37	chr17	11584066	11584066	+	Frame_Shift_Del	DEL	A	A	-													cctgagaaatggaacaacatAaaaaaggtggccattactgt							TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr17:11584066delA	ENST00000262442.4	+	19	3671	c.3603delA	c.(3601-3603)atafs	p.I1201fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.I1201fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1201	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)			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)		GGAACAACATAAAAAAGGTGG	0.532																																																	0								ENSG00000007174						69	56	60					17																	11584066		2203	4300	6503	DNAH9	SO:0001589	frameshift_variant	0				HGNC	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.3603delA	17.37:g.11584066delA	ENSP00000262442:p.Ile1201fs	Somatic	0	43	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1203fs	ENST00000262442.4	37	c.3603	CCDS11160.1	17																																																																																			-	NULL		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	A	NM_001372			11584066	1	no_errors	ENST00000262442	ensembl	human	known	74_37	frame_shift_del	DEL	0.379	-	-	11584066	A	-	11584066	7	5	228	1	0	1	0	1	0	0	0	0	4610	352	13	0	3677	0	DNAH9	17	11584066	Frame_Shift_Del	DEL	A	TCGA-WK-A8Y0-01A-11D-A417-09	4010041	11584066	69611144	45	18375											
SPACA3	124912	genome.wustl.edu	37	chr17	31324480	31324480	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagatttgttgaatcctaatCtcaaggataccgttatctgt	7	8	2	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr17:31324480C>G	ENST00000269053.3	+	4	590	c.520C>G	c.(520-522)Ctc>Gtc	p.L174V	SPACA3_ENST00000580599.1_Missense_Mutation_p.L105V|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.L71V	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	174					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GAATCCTAATCTCAAGGATAC	0.498																																																	0								ENSG00000141316						232	220	224					17																	31324480		2203	4300	6503	SPACA3	SO:0001583	missense	0			-	HGNC	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.520C>G	17.37:g.31324480C>G	ENSP00000269053:p.Leu174Val	Somatic	0	25	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	Q7Z4Y5	Missense_Mutation	SNP							pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.L174V	ENST00000269053.3	37	c.520	CCDS11275.1	17	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400852	0.42613	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.71103	-0.54;-0.54	3.87	2.85	0.33270	Lysozyme-like domain (1);Glycoside hydrolase, family 22, conserved site (1);	0.422175	0.18467	N	0.140360	T	0.76941	0.4058	L	0.56396	1.775	0.24350	N	0.994929	D	0.59357	0.985	D	0.65874	0.939	T	0.64166	-0.6471	10	0.49607	T	0.09	-3.4417	8.5237	0.33291	0.2306:0.7694:0.0:0.0	.	174	Q8IXA5	SACA3_HUMAN	V	174;71;175;82	ENSP00000269053:L174V;ENSP00000378134:L71V	ENSP00000269053:L174V	L	+	1	0	SPACA3	28348593	0.974000	0.33945	0.248000	0.24265	0.107000	0.19398	1.421000	0.34815	1.980000	0.57719	0.379000	0.24179	CTC	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys		0.498	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA3	protein_coding	OTTHUMT00000256380.1	C	NM_173847	-		31324480	1	no_errors	ENST00000269053	ensembl	human	known	74_37	missense	SNP	0.544	G	G	31324480	C	G	31324480	3	3	228	1	0	0	0	0	1	0	0	0	14981	913	32	4	534	4	SPACA3	17	31324480	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	19740414	31324480	49870730	46	18376											
ACLY	47	genome.wustl.edu	37	chr17	40048663	40048663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagacagggatcaggatctCtttgtgcccccagtaaaact	10	10	2	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr17:40048663C>T	ENST00000352035.2	-	16	1769	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ACLY_ENST00000353196.1_Missense_Mutation_p.E537K|ACLY_ENST00000590151.1_Missense_Mutation_p.E547K|ACLY_ENST00000537919.1_Missense_Mutation_p.E276K|ACLY_ENST00000393896.2_Missense_Mutation_p.E537K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	547					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATCAGGATCTCTTTGTGCCCC	0.498																																					Colon(64;807 1396 15971 30971)												0								ENSG00000131473						127	112	117					17																	40048663		2203	4300	6503	ACLY	SO:0001583	missense	0			-	HGNC	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1639G>A	17.37:g.40048663C>T	ENSP00000253792:p.Glu547Lys	Somatic	0	33	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP							pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.E547K	ENST00000352035.2	37	c.1639	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.559222	0.96514	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89617	-1.55;-1.57;-2.54;-1.57	5.64	5.64	0.86602	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	H	0.95328	3.655	0.80722	D	1	D;P;P;P;D	0.69078	0.997;0.825;0.825;0.882;0.997	D;P;P;P;D	0.76071	0.987;0.544;0.544;0.873;0.987	D	0.96841	0.9618	10	0.66056	D	0.02	.	20.0666	0.97706	0.0:1.0:0.0:0.0	.	276;591;601;537;547	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	K	547;601;537;276;537	ENSP00000253792:E547K;ENSP00000345398:E537K;ENSP00000445349:E276K;ENSP00000377474:E537K	ENSP00000253792:E547K	E	-	1	0	ACLY	37302189	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.704000	0.84595	2.826000	0.97356	0.561000	0.74099	GAG	-	pfam_CoA-bd,smart_CoA-bd,pirsf_ATP-citrate_synthase		0.498	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	protein_coding	OTTHUMT00000257465.1	C	NM_001096	-		40048663	-1	no_errors	ENST00000352035	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40048663	C	T	40048663	3	4	228	1	0	0	0	0	1	0	0	0	143	922	32	2	1722	2	ACLY	17	40048663	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	8724183	40048663	41146547	47	18377											
RNF213	57674	genome.wustl.edu	37	chr17	78282903	78282903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcacaaagctacttAagttttacgagctgccagcc	9	12	0	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr17:78282903A>G	ENST00000582970.1	+	14	2730	c.2587A>G	c.(2587-2589)Aag>Gag	p.K863E	RNF213_ENST00000508628.2_Missense_Mutation_p.K912E|RNF213_ENST00000319921.4_Missense_Mutation_p.K863E|RNF213_ENST00000456466.1_Missense_Mutation_p.K863E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	863					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)			AAAGCTACTTAAGTTTTACGA	0.498																																																	0								ENSG00000173821						155	143	147					17																	78282903		2203	4300	6503	RNF213	SO:0001583	missense	0			-	HGNC	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.2587A>G	17.37:g.78282903A>G	ENSP00000464087:p.Lys863Glu	Somatic	0	41	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	12	68.42	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.K863E	ENST00000582970.1	37	c.2587	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	A	9.841	1.191048	0.21954	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13538	2.58;2.58	5.38	-10.2	0.00374	.	3.163830	0.00654	N	0.000577	T	0.09335	0.0230	L	0.40543	1.245	0.09310	N	0.999998	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.13872	-1.0493	10	0.14252	T	0.57	-2.6289	8.7253	0.34465	0.3164:0.3167:0.3669:0.0	.	863;863	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	E	863;912;863;863	ENSP00000392123:K863E;ENSP00000324392:K863E	ENSP00000324392:K863E	K	+	1	0	RNF213	75897498	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.886000	0.04157	-1.998000	0.00968	-2.200000	0.00306	AAG	-	NULL		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	A	NM_020914	-		78282903	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	0.000	G	G	78282903	A	G	78282903	3	3	228	1	0	0	0	0	1	0	0	0	13485	363	13	5	2788	5	RNF213	17	78282903	Missense_Mutation	SNP	A	TCGA-WK-A8Y0-01A-11D-A417-09	38234240	78282903	2912307	48	18378											
SBNO2	22904	genome.wustl.edu	37	chr19	1112841	1112847	+	Frame_Shift_Del	DEL	CTTCTCC	CTTCTCC	-													tcgccgctcatgaagcgctgCttctccctgaggttcacgtg					rs200086865	byFrequency	TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	CTTCTCC	CTTCTCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr19:1112841_1112847delCTTCTCC	ENST00000361757.3	-	20	2586_2592	c.2349_2355delGGAGAAG	c.(2347-2355)agggagaagfs	p.REK783fs	SBNO2_ENST00000438103.2_Frame_Shift_Del_p.REK726fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.REK773fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	783					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGAAGCGCTGCTTCTCCCTGAGGTTCA	0.696																																																	0								ENSG00000064932																																			SBNO2	SO:0001589	frameshift_variant	0				HGNC	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2349_2355delGGAGAAG	19.37:g.1112841_1112847delCTTCTCC	ENSP00000354733:p.Arg783fs	Somatic					0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1				A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL							superfamily_P-loop_NTPase	p.R783fs	ENST00000361757.3	37	c.2355_2349	CCDS45894.1	19																																																																																			-	NULL		0.696	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	protein_coding	OTTHUMT00000458065.2	CTTCTCC	NM_014963			1112847	-1	no_errors	ENST00000361757	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	1112847	CTTCTCC	-	1112841	7	5	228	1	0	1	0	1	0	0	0	0	13871	796	28	0	1797	0	SBNO2	19	1112841	Frame_Shift_Del	DEL	CTTCTCC	TCGA-WK-A8Y0-01A-11D-A417-09		1112841	58016142	49	18379											
OR7G1	125962	genome.wustl.edu	37	chr19	9225933	9225933	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagggatttcaacgtttttGcagaaggacagctgcaatac	10	7	1	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr19:9225933G>T	ENST00000541538.1	-	1	506	c.507C>A	c.(505-507)tgC>tgA	p.C169*	OR7G1_ENST00000293614.1_Nonsense_Mutation_p.C169*	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	169						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)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CAACGTTTTTGCAGAAGGACA	0.448																																																	0								ENSG00000161807						119	111	114					19																	9225933		2203	4300	6503	OR7G1	SO:0001587	stop_gained	0			-	HGNC		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.507C>A	19.37:g.9225933G>T	ENSP00000444134:p.Cys169*	Somatic	0	46	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	23	42.50	Q6IFJ5|Q96RA1	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C169*	ENST00000541538.1	37	c.507	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	g	15.96	2.985612	0.53934	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	.	.	.	3.78	-2.38	0.06622	.	0.000000	0.41938	U	0.000792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4063	0.11411	0.4696:0.0:0.3751:0.1553	.	.	.	.	X	169	.	ENSP00000293614:C169X	C	-	3	2	OR7G1	9086933	0.011000	0.17503	0.000000	0.03702	0.338000	0.28826	0.137000	0.15995	-0.195000	0.10382	0.501000	0.49751	TGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	protein_coding	OTTHUMT00000397912.1	G		-		9225933	-1	no_errors	ENST00000293614	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	9225933	G	T	9225933	4	4	228	1	0	0	0	0	0	1	0	0	11224	1311	46	3	502	3	OR7G1	19	9225933	Nonsense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	8113092	9225933	49903050	50	18380											
EMR3	84658	genome.wustl.edu	37	chr19	14752409	14752409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccacgtaggtgatgacaGtcagcacgggatcctcctcc	11	15	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr19:14752409G>A	ENST00000253673.5	-	10	1170	c.1070C>T	c.(1069-1071)aCt>aTt	p.T357I	EMR3_ENST00000344373.4_Missense_Mutation_p.T305I|EMR3_ENST00000443157.2_Missense_Mutation_p.T231I|EMR3_ENST00000599900.1_Missense_Mutation_p.T142I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	357					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGTGATGACAGTCAGCACGGG	0.562																																																	0								ENSG00000131355						72	60	64					19																	14752409		2203	4300	6503	EMR3	SO:0001583	missense	0			-	HGNC	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1070C>T	19.37:g.14752409G>A	ENSP00000253673:p.Thr357Ile	Somatic	0	39	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	13	62.86		Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.T357I	ENST00000253673.5	37	c.1070	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.922118	0.33908	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.37058	1.22;1.22;1.22	3.68	0.0856	0.14442	GPCR, family 2-like (1);	.	.	.	.	T	0.52549	0.1741	M	0.89904	3.07	0.09310	N	1	D;P;P	0.53151	0.958;0.948;0.707	P;P;P	0.57468	0.821;0.726;0.703	T	0.47209	-0.9135	9	0.72032	D	0.01	.	0.9045	0.01281	0.2157:0.1847:0.41:0.1896	.	231;305;357	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	I	231;357;305	ENSP00000396208:T231I;ENSP00000253673:T357I;ENSP00000340758:T305I	ENSP00000253673:T357I	T	-	2	0	EMR3	14613409	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.737000	0.01843	-0.058000	0.13177	0.561000	0.74099	ACT	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.562	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	protein_coding	OTTHUMT00000466488.1	G	NM_032571	-		14752409	-1	no_errors	ENST00000253673	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14752409	G	A	14752409	3	1	228	1	0	0	0	0	1	0	0	0	5108	1029	36	2	916	2	EMR3	19	14752409	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	5526476	14752409	44376574	51	18381											
ANKLE1	126549	genome.wustl.edu	37	chr19	17396345	17396345	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaagggacgagggcccgGccatatgtccacctctggga	15	12	1	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr19:17396345G>T	ENST00000394458.3	+	7	1758	c.1482G>T	c.(1480-1482)cgG>cgT	p.R494R	ANKLE1_ENST00000598347.1_Silent_p.R468R|ANKLE1_ENST00000404085.1_Silent_p.R490R|ANKLE1_ENST00000594072.1_Silent_p.R457R|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	494	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CGAGGGCCCGGCCATATGTCC	0.622																																																	0								ENSG00000160117						81	89	86					19																	17396345		2203	4300	6503	ANKLE1	SO:0001819	synonymous_variant	0			-	HGNC	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1482G>T	19.37:g.17396345G>T		Somatic	0	53	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8VU82|Q8N8J8	Silent	SNP							pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom	p.R494	ENST00000394458.3	37	c.1482	CCDS12354.2	19																																																																																			-	NULL		0.622	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	protein_coding	OTTHUMT00000325392.2	G	NM_152363	-		17396345	1	no_errors	ENST00000394458	ensembl	human	known	74_37	silent	SNP	0.963	T	T	17396345	G	T	17396345	2	4	228	1	0	0	0	0	0	0	0	1	632	1190	42	3		3	ANKLE1	19	17396345	Silent	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	2643936	17396345	41732638	52	18382											
ZNF234	10780	genome.wustl.edu	37	chr19	44661971	44661971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctatacatgtggggagtGtgggaagcacttcagtcagg	14	8	2	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr19:44661971G>T	ENST00000426739.2	+	6	2060	c.1802G>T	c.(1801-1803)tGt>tTt	p.C601F	ZNF234_ENST00000592437.1_Missense_Mutation_p.C601F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	601					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TGTGGGGAGTGTGGGAAGCAC	0.473																																																	0								ENSG00000263002						127	135	133					19																	44661971		2192	4296	6488	ZNF234	SO:0001583	missense	0			-	HGNC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1802G>T	19.37:g.44661971G>T	ENSP00000400878:p.Cys601Phe	Somatic	0	58	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C601F	ENST00000426739.2	37	c.1802	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	16.71	3.200009	0.58126	.	.	ENSG00000167380	ENST00000426739	D	0.85861	-2.04	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95043	0.8395	H	0.97682	4.055	0.38076	D	0.936525	D	0.89917	1.0	D	0.91635	0.999	D	0.97849	1.0273	9	0.87932	D	0	.	15.6391	0.76981	0.0:0.0:1.0:0.0	.	601	Q14588	ZN234_HUMAN	F	601	ENSP00000400878:C601F	ENSP00000400878:C601F	C	+	2	0	ZNF226	49353811	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.775000	0.62346	2.278000	0.76064	0.585000	0.79938	TGT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	protein_coding	OTTHUMT00000460586.2	G		-		44661971	1	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	SNP	1.000	T	T	44661971	G	T	44661971	3	4	228	1	0	0	0	0	1	0	0	0	17794	1377	48	3	1816	3	ZNF234	19	44661971	Missense_Mutation	SNP	G	TCGA-WK-A8Y0-01A-11D-A417-09	27265626	44661971	14467012	53	18383											
NLRP12	91662	genome.wustl.edu	37	chr19	54327234	54327234	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctccaggcctcctctggCccgaagtgggtgatgagcag	13	13	1	2			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr19:54327234C>A	ENST00000324134.6	-	1	363	c.195G>T	c.(193-195)ggG>ggT	p.G65G	NLRP12_ENST00000535162.1_Silent_p.G65G|NLRP12_ENST00000345770.5_Silent_p.G65G|NLRP12_ENST00000391772.1_Silent_p.G65G|NLRP12_ENST00000351894.4_Silent_p.G65G|NLRP12_ENST00000391773.1_Silent_p.G65G|NLRP12_ENST00000391775.3_Silent_p.G65G|NLRP12_ENST00000354278.3_Silent_p.G65G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	65	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTCCTCTGGCCCGAAGTGGG	0.617																																																	0								ENSG00000142405						85	83	84					19																	54327234		2203	4300	6503	NLRP12	SO:0001819	synonymous_variant	0			-	HGNC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.195G>T	19.37:g.54327234C>A		Somatic	0	71	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G65	ENST00000324134.6	37	c.195	CCDS12864.1	19																																																																																			-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	C	NM_144687	-		54327234	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	SNP	0.034	A	A	54327234	C	A	54327234	2	1	228	1	0	0	0	0	0	0	0	1	10476	726	26	3		3	NLRP12	19	54327234	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09	9665263	54327234	4801749	54	18384											
ZNF831	128611	genome.wustl.edu	37	chr20	57829203	57829203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctttgggtccaaaggaaCttttccccaccatgacattg	7	12	0	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr20:57829203C>A	ENST00000371030.2	+	5	4439	c.4439C>A	c.(4438-4440)aCt>aAt	p.T1480N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1480							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCAAAGGAACTTTTCCCCAC	0.488																																																	0								ENSG00000124203						88	91	90					20																	57829203		2005	4190	6195	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4439C>A	20.37:g.57829203C>A	ENSP00000360069:p.Thr1480Asn	Somatic	0	28	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q5TDR4|Q8TCP0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1480N	ENST00000371030.2	37	c.4439	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950449	0.53186	.	.	ENSG00000124203	ENST00000371030	T	0.04917	3.53	5.9	-4.86	0.03132	.	0.975747	0.08415	N	0.949191	T	0.06005	0.0156	M	0.62723	1.935	0.09310	N	1	B	0.25048	0.117	B	0.17722	0.019	T	0.43540	-0.9385	10	0.87932	D	0	-0.6901	2.0504	0.03570	0.1076:0.2501:0.3171:0.3251	.	1480	Q5JPB2	ZN831_HUMAN	N	1480	ENSP00000360069:T1480N	ENSP00000360069:T1480N	T	+	2	0	ZNF831	57262598	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.363000	0.07593	-0.645000	0.05458	-0.172000	0.13284	ACT	-	NULL		0.488	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	C	NM_178457	-		57829203	1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.000	A	A	57829203	C	A	57829203	3	1	228	1	0	0	0	0	1	0	0	0	18192	565	20	3	4457	3	ZNF831	20	57829203	Missense_Mutation	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		57829203	5196317	55	18385											
HUNK	30811	genome.wustl.edu	37	chr21	33318455	33318455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgctcgccaggaagaaaTacggccccaaaatcgatgtc	9	12	0	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chr21:33318455T>C	ENST00000270112.2	+	4	1078	c.718T>C	c.(718-720)Tac>Cac	p.Y240H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGGAAGAAATACGGCCCCAA	0.532																																																	0								ENSG00000142149						98	85	89					21																	33318455		2203	4300	6503	HUNK	SO:0001583	missense	0			-	HGNC	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.718T>C	21.37:g.33318455T>C	ENSP00000270112:p.Tyr240His	Somatic	0	61	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	59	28.57		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y240H	ENST00000270112.2	37	c.718	CCDS13610.1	21	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716804	0.89205	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.30182	1.54;1.54	5.28	5.28	0.74379	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	0.60508	0.2274	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67654	-0.5615	10	0.87932	D	0	-33.5884	15.3876	0.74714	0.0:0.0:0.0:1.0	.	240	P57058	HUNK_HUMAN	H	240;125	ENSP00000270112:Y240H;ENSP00000411860:Y125H	ENSP00000270112:Y240H	Y	+	1	0	HUNK	32240326	1.000000	0.71417	0.984000	0.44739	0.939000	0.58152	7.470000	0.80973	2.217000	0.71921	0.533000	0.62120	TAC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	protein_coding	OTTHUMT00000192782.1	T	NM_014586	-		33318455	1	no_errors	ENST00000270112	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33318455	T	C	33318455	3	2	228	1	0	0	0	0	1	0	0	0	7460	1406	49	5	732	5	HUNK	21	33318455	Missense_Mutation	SNP	T	TCGA-WK-A8Y0-01A-11D-A417-09		33318455	14811440	56	18386											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350911	50350911	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttgctaaagagctccctCctatgctgcccccaggcccg	8	18	0	1			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chrX:50350911C>T	ENST00000289292.7	-	6	3514	c.3231G>A	c.(3229-3231)agG>agA	p.R1077R	SHROOM4_ENST00000376020.2_Silent_p.R1077R|SHROOM4_ENST00000460112.3_Silent_p.R961R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1077					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGAGCTCCCTCCTATGCTGCC	0.627																																																	0								ENSG00000158352						41	38	39					X																	50350911		2203	4300	6503	SHROOM4	SO:0001819	synonymous_variant	0			-	HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3231G>A	X.37:g.50350911C>T		Somatic	0	48	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	65	14.47	A7E2X9|D6RFW0|Q96LA0	Silent	SNP							pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1077	ENST00000289292.7	37	c.3231	CCDS35277.1	X																																																																																			-	NULL		0.627	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	C	NM_020717	-		50350911	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	silent	SNP	0.008	T	T	50350911	C	T	50350911	2	4	228	1	0	0	0	0	0	0	0	1	14304	854	30	2		2	SHROOM4	23	50350911	Silent	SNP	C	TCGA-WK-A8Y0-01A-11D-A417-09		50350911	104919649	57	18387											
ATRX	546	genome.wustl.edu	37	chrX	76888728	76888728	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctttgttaaatatttcttTaagtttccgactcttcacat	4	8	3	0			TCGA-WK-A8Y0-01A-11D-A417-09	TCGA-WK-A8Y0-10D-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efdaf8c2-1a45-4677-9eac-e5a8ab3dae46	f02bb3c1-15b5-43b8-a511-7e422b29cdbc	g.chrX:76888728T>A	ENST00000373344.5	-	19	5315	c.5101A>T	c.(5101-5103)Aaa>Taa	p.K1701*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.K1663*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1701	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATATTTCTTTAAGTTTCCGA	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						195	209	204					X																	76888728		2203	4296	6499	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5101A>T	X.37:g.76888728T>A	ENSP00000362441:p.Lys1701*	Somatic	0	51	0		0.688847108644563				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	40	42.86	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1701*	ENST00000373344.5	37	c.5101	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	T	47	13.841391	0.99766	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6866	14.8311	0.70149	0.0:0.0:0.0:1.0	.	.	.	.	X	1701;1663	.	ENSP00000362441:K1701X	K	-	1	0	ATRX	76775384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	1.885000	0.54596	0.481000	0.45027	AAA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489	-		76888728	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	76888728	T	A	76888728	4	1	228	1	0	0	0	0	0	1	0	0	1208	1763	61	5	2445	5	ATRX	23	76888728	Nonsense_Mutation	SNP	T	TCGA-WK-A8Y0-01A-11D-A417-09	26537817	76888728	78381832	58	18388											
PRDM16	63976	genome.wustl.edu	37	chr1	3301765	3301765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtggatgcaaatcaggCgggggctggcagctggctca	17	10	2	0	rs201182055		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:3301765C>T	ENST00000270722.5	+	4	537	c.488C>T	c.(487-489)gCg>gTg	p.A163V	PRDM16_ENST00000378391.2_Missense_Mutation_p.A163V|PRDM16_ENST00000514189.1_Missense_Mutation_p.A164V|PRDM16_ENST00000442529.2_Missense_Mutation_p.A163V|PRDM16_ENST00000378398.3_Missense_Mutation_p.A163V|PRDM16_ENST00000511072.1_Missense_Mutation_p.A164V|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.A163V			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	163	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)	p.A163V(1)		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)		GCAAATCAGGCGGGGGCTGGC	0.597			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - Missense(1)	endometrium(1)						ENSG00000142611						91	103	99					1																	3301765		2158	4265	6423	PRDM16	SO:0001583	missense	0			-	HGNC	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.488C>T	1.37:g.3301765C>T	ENSP00000270722:p.Ala163Val	Somatic	0	37	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A163V	ENST00000270722.5	37	c.488	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734198	0.30684	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	D;D;T;T;T;D;T	0.85861	-2.04;-2.04;-0.86;-0.86;-0.86;-2.04;-0.86	4.52	2.6	0.31112	SET domain (2);	0.463226	0.16574	U	0.208510	T	0.69878	0.3160	L	0.28192	0.835	0.09310	N	1	B;B;B;B	0.14438	0.002;0.008;0.01;0.004	B;B;B;B	0.09377	0.001;0.002;0.004;0.001	T	0.50988	-0.8762	10	0.16896	T	0.51	.	3.0937	0.06302	0.2894:0.4602:0.1609:0.0896	.	163;163;163;163	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	V	164;163;163;163;163;164;163	ENSP00000426975:A164V;ENSP00000367651:A163V;ENSP00000407968:A163V;ENSP00000405253:A163V;ENSP00000367643:A163V;ENSP00000421400:A164V;ENSP00000270722:A163V	ENSP00000270722:A163V	A	+	2	0	PRDM16	3291625	0.639000	0.27234	0.008000	0.14137	0.010000	0.07245	1.205000	0.32308	0.429000	0.26202	-0.314000	0.08810	GCG	-	smart_SET_dom,pfscan_SET_dom		0.597	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	C	NM_022114	rs201182055		3301765	1	no_errors	ENST00000270722	ensembl	human	known	74_37	missense	SNP	0.014	T	T	3301765	C	T	3301765	3	4	229	1	0	0	0	0	1	0	0	0	12462	768	27	1	502	1	PRDM16	1	3301765	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		3301765	245948856	1	18389											
PLOD1	5351	genome.wustl.edu	37	chr1	12009835	12009835	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttctctccaggcgctTggcctaggggaggactggaa	16	9	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:12009835T>C	ENST00000196061.4	+	3	201	c.174T>C	c.(172-174)ctT>ctC	p.L58L	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.L105L	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	58					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)	TCCAGGCGCTTGGCCTAGGGG	0.567																																																	0								ENSG00000083444						85	94	91					1																	12009835		2203	4300	6503	PLOD1	SO:0001819	synonymous_variant	0			-	HGNC	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.174T>C	1.37:g.12009835T>C		Somatic	0	47	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4DR87|Q96AV9|Q9H132	Silent	SNP							pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L105	ENST00000196061.4	37	c.315	CCDS142.1	1																																																																																			-	NULL		0.567	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	protein_coding	OTTHUMT00000006865.1	T	NM_000302	-		12009835	1	no_errors	ENST00000376369	ensembl	human	known	74_37	silent	SNP	0.727	C	C	12009835	T	C	12009835	2	2	229	1	0	0	0	0	0	0	0	1	12103	1799	63	5		5	PLOD1	1	12009835	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	8708070	12009835	237240786	2	18390											
MACF1	23499	genome.wustl.edu	37	chr1	39800543	39800544	+	Frame_Shift_Del	DEL	AG	AG	-													ctggcaaatatgatccaaatAgatagttcagagttcagcga							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:39800543_39800544delAG	ENST00000372915.3	+	36	8385_8386	c.8298_8299delAG	c.(8296-8301)atagatfs	p.D2767fs	MACF1_ENST00000289893.4_Frame_Shift_Del_p.D1202fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.D2799fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Del_p.D2762fs|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2767					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGATCCAAATAGATAGTTCAGA	0.371																																																	0								ENSG00000127603																																			MACF1	SO:0001589	frameshift_variant	0				HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8298_8299delAG	1.37:g.39800543_39800544delAG	ENSP00000362006:p.Asp2767fs	Somatic	0	22	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL							pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.D2799fs	ENST00000372915.3	37	c.8394_8395		1																																																																																			-	superfamily_RNaseH-like_dom		0.371	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	AG	NM_033044			39800544	1	no_errors	ENST00000567887	ensembl	human	putative	74_37	frame_shift_del	DEL	0.714:0.727	-	-	39800544	AG	-	39800543	7	5	229	1	0	1	0	1	0	0	0	0	9146	410	15	0	8374	0	MACF1	1	39800543	Frame_Shift_Del	DEL	AG	TCGA-WP-A9GB-01A-11D-A37C-09	27790708	39800543	209450078	3	18391											
HIVEP3	59269	genome.wustl.edu	37	chr1	42046979	42046979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggacatggcctgggtggAgaagaattctggagactgtc	16	7	1	3	rs187400091	byFrequency	TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:42046979A>G	ENST00000372583.1	-	4	4375	c.3490T>C	c.(3490-3492)Tcc>Ccc	p.S1164P	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1164P|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1164P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1164P|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1164					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCTGGGTGGAGAAGAATTCT	0.577													A|||	2	0.000399361	0	0	5008	,	,		17932	0		0.002	False		,,,				2504	0																0								ENSG00000127124						138	123	128					1																	42046979		2203	4300	6503	HIVEP3	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3490T>C	1.37:g.42046979A>G	ENSP00000361664:p.Ser1164Pro	Somatic	0	91	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	45	23.73	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1164P	ENST00000372583.1	37	c.3490	CCDS463.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	3.669	-0.068014	0.07228	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05081	3.51;3.5;3.5;3.51	4.61	-0.48	0.12085	.	0.293803	0.24791	N	0.035561	T	0.02047	0.0064	N	0.04880	-0.145	0.26369	N	0.976926	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.45804	-0.9236	10	0.02654	T	1	-6.3721	5.3284	0.15918	0.3885:0.2805:0.3311:0.0	.	1164;1164	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	P	1164	ENSP00000361665:S1164P;ENSP00000361664:S1164P;ENSP00000247584:S1164P;ENSP00000410828:S1164P	ENSP00000247584:S1164P	S	-	1	0	HIVEP3	41819566	0.990000	0.36364	0.994000	0.49952	0.795000	0.44927	0.420000	0.21263	-0.251000	0.09542	-0.456000	0.05471	TCC	-	NULL		0.577	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	A	NM_024503	rs187400091		42046979	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	SNP	0.988	G	G	42046979	A	G	42046979	3	3	229	1	0	0	0	0	1	0	0	0	7190	304	11	5	3754	5	HIVEP3	1	42046979	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	2246436	42046979	207203642	4	18392											
PTPRF	5792	genome.wustl.edu	37	chr1	44035396	44035396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttcttggttcaaggactTccttcctgtagaccctgcca	8	12	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:44035396T>C	ENST00000359947.4	+	6	855	c.515T>C	c.(514-516)tTc>tCc	p.F172S	PTPRF_ENST00000372414.3_Missense_Mutation_p.F172S|PTPRF_ENST00000438120.1_Missense_Mutation_p.F172S|PTPRF_ENST00000372413.3_Missense_Mutation_p.F172S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	172	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCAAGGACTTCCTTCCTGTA	0.592																																																	0								ENSG00000142949						71	68	69					1																	44035396		2203	4300	6503	PTPRF	SO:0001583	missense	0			-	HGNC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.515T>C	1.37:g.44035396T>C	ENSP00000353030:p.Phe172Ser	Somatic	0	34	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.F172S	ENST00000359947.4	37	c.515	CCDS489.2	1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424624	0.83667	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35708	N	0.003035	T	0.30166	0.0756	N	0.01202	-0.96	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.997;0.922	D;D;D;P	0.85130	0.997;0.996;0.92;0.697	T	0.50482	-0.8823	10	0.21540	T	0.41	.	15.0283	0.71687	0.0:0.0:0.0:1.0	.	172;172;172;172	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	S	172	ENSP00000353030:F172S;ENSP00000398822:F172S;ENSP00000361491:F172S;ENSP00000361490:F172S;ENSP00000413306:F172S	ENSP00000353030:F172S	F	+	2	0	PTPRF	43807983	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.040000	0.89188	2.026000	0.59711	0.459000	0.35465	TTC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	protein_coding	OTTHUMT00000019710.1	T		-		44035396	1	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	SNP	1.000	C	C	44035396	T	C	44035396	3	2	229	1	0	0	0	0	1	0	0	0	12809	1783	62	5	529	5	PTPRF	1	44035396	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	1988417	44035396	205215225	5	18393											
GPBP1L1	60313	genome.wustl.edu	37	chr1	46106026	46106026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcctctttggaaacTtttttgataactagcatctt	7	8	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:46106026T>C	ENST00000290795.3	-	7	1821	c.600A>G	c.(598-600)aaA>aaG	p.K200K	GPBP1L1_ENST00000355105.3_Silent_p.K200K			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	200					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTTTGGAAACTTTTTTGATAA	0.463																																																	0								ENSG00000159592						258	244	248					1																	46106026		2203	4300	6503	GPBP1L1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.600A>G	1.37:g.46106026T>C		Somatic	0	104	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	19	70.77	D3DQ10|Q9H751	Silent	SNP							NULL	p.K200	ENST00000290795.3	37	c.600	CCDS528.1	1																																																																																			-	NULL		0.463	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	protein_coding	OTTHUMT00000098375.1	T	NM_021639	-		46106026	-1	no_errors	ENST00000290795	ensembl	human	known	74_37	silent	SNP	1.000	C	C	46106026	T	C	46106026	2	2	229	1	0	0	0	0	0	0	0	1	6598	1606	56	5		5	GPBP1L1	1	46106026	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	2070630	46106026	203144595	6	18394											
LRRC42	115353	genome.wustl.edu	37	chr1	54423865	54423865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggagattaagtctttcCgggagctgacctgcctggat	13	8	1	3	rs578181272		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:54423865C>T	ENST00000371370.3	+	4	1038	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	LRRC42_ENST00000319223.4_Missense_Mutation_p.R173W	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	173										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TAAGTCTTTCCGGGAGCTGAC	0.468													C|||	1	0.000199681	0	0	5008	,	,		16437	0.001		0	False		,,,				2504	0																0								ENSG00000116212						132	115	121					1																	54423865		2203	4300	6503	LRRC42	SO:0001583	missense	0			-	HGNC	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.517C>T	1.37:g.54423865C>T	ENSP00000360421:p.Arg173Trp	Somatic	0	55	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	D3DQ46|Q8N2Q8	Missense_Mutation	SNP							NULL	p.R173W	ENST00000371370.3	37	c.517	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.231631	0.95207	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	T;T;T;T	0.31769	5.43;2.24;5.43;1.48	5.32	5.32	0.75619	.	0.276343	0.38837	N	0.001558	T	0.36991	0.0987	N	0.08118	0	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.941;0.967;0.965	T	0.39603	-0.9606	10	0.41790	T	0.15	-18.7358	19.5787	0.95455	0.0:1.0:0.0:0.0	.	173;173;173	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	W	173	ENSP00000360421:R173W;ENSP00000360419:R173W;ENSP00000318185:R173W;ENSP00000389368:R173W	ENSP00000318185:R173W	R	+	1	2	LRRC42	54196453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.272000	0.51616	2.941000	0.99782	0.655000	0.94253	CGG	-	NULL		0.468	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	protein_coding	OTTHUMT00000023250.1	C	NM_052940	-		54423865	1	no_errors	ENST00000319223	ensembl	human	known	74_37	missense	SNP	1.000	T	T	54423865	C	T	54423865	3	4	229	1	0	0	0	0	1	0	0	0	9002	643	23	1	523	1	LRRC42	1	54423865	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	8317839	54423865	194826756	7	18395											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74540395	74540395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcatgcctagatcttttGgttttaattcacataaaata	4	6	3	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:74540395G>A	ENST00000395089.1	-	5	946	c.947C>T	c.(946-948)cCa>cTa	p.P316L	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P316L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	316										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGATCTTTTGGTTTTAATTC	0.229																																																	0								ENSG00000162620						46	40	42					1																	74540395		1768	4017	5785	LRRIQ3	SO:0001583	missense	0			-	HGNC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.947C>T	1.37:g.74540395G>A	ENSP00000378524:p.Pro316Leu	Somatic	0	55	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	18	67.86	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP							pfscan_IQ_motif_EF-hand-BS	p.P316L	ENST00000395089.1	37	c.947	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	G	2.795	-0.250469	0.05867	.	.	ENSG00000162620	ENST00000417067;ENST00000395089;ENST00000354431	T;T	0.07800	3.16;3.16	4.4	1.01	0.19927	.	1.133360	0.06963	U	0.816640	T	0.01870	0.0059	N	0.22421	0.69	0.29372	N	0.863916	B	0.19706	0.038	B	0.16722	0.016	T	0.45469	-0.9259	10	0.39692	T	0.17	.	6.337	0.21302	0.0:0.1832:0.4408:0.376	.	316	A6PVS8	LRIQ3_HUMAN	L	27;316;316	ENSP00000378524:P316L;ENSP00000346414:P316L	ENSP00000346414:P316L	P	-	2	0	LRRIQ3	74312983	0.942000	0.31987	0.679000	0.29978	0.081000	0.17604	1.093000	0.30939	0.479000	0.27511	0.655000	0.94253	CCA	-	NULL		0.229	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	protein_coding	OTTHUMT00000316539.1	G	NM_145258	-		74540395	-1	no_errors	ENST00000354431	ensembl	human	known	74_37	missense	SNP	0.960	A	A	74540395	G	A	74540395	3	1	229	1	0	0	0	0	1	0	0	0	9032	1348	47	2	939	2	LRRIQ3	1	74540395	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	20116530	74540395	174710226	8	18396											
HSD3B1	3283	genome.wustl.edu	37	chr1	120057126	120057126	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacattgtcaaatagcgtatTcaccttctcttataagaagg	6	9	3	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:120057126T>G	ENST00000369413.3	+	4	1125	c.980T>G	c.(979-981)tTc>tGc	p.F327C	HSD3B1_ENST00000528909.1_Missense_Mutation_p.F327C|HSD3B1_ENST00000235547.6_Missense_Mutation_p.F329C			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	327					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)	AATAGCGTATTCACCTTCTCT	0.493																																																	0								ENSG00000203857						119	109	112					1																	120057126		2203	4300	6503	HSD3B1	SO:0001583	missense	0			-	HGNC	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.980T>G	1.37:g.120057126T>G	ENSP00000358421:p.Phe327Cys	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	1	95.00	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP							pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.F329C	ENST00000369413.3	37	c.986	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	T	9.535	1.111812	0.20714	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	T;T;T	0.71817	-0.6;-0.6;-0.6	3.26	0.674	0.17946	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.93106	3.38	0.49483	D	0.999794	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.929	T	0.78550	-0.2161	10	0.72032	D	0.01	-21.2337	6.8042	0.23768	0.3719:0.0:0.0:0.6281	.	329;327	Q5TDG2;P14060	.;3BHS1_HUMAN	C	327;329;327	ENSP00000358421:F327C;ENSP00000235547:F329C;ENSP00000432268:F327C	ENSP00000235547:F329C	F	+	2	0	HSD3B1	119858649	1.000000	0.71417	0.479000	0.27329	0.035000	0.12851	3.698000	0.54771	-0.001000	0.14495	-0.991000	0.02546	TTC	-	NULL		0.493	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	protein_coding	OTTHUMT00000034993.3	T	NM_000862	-		120057126	1	no_errors	ENST00000235547	ensembl	human	known	74_37	missense	SNP	0.989	G	G	120057126	T	G	120057126	3	3	229	1	0	0	0	0	1	0	0	0	7392	1783	62	5	990	5	HSD3B1	1	120057126	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	45516731	120057126	129193495	9	18397											
PDZK1	5174	genome.wustl.edu	37	chr1	145761266	145761266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcctactcccacttctcTggaagtctcaagtccaccag	6	16	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:145761266T>C	ENST00000344770.2	+	7	1152	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	PDZK1_ENST00000451928.2_Missense_Mutation_p.L249P|PDZK1_ENST00000417171.1_Missense_Mutation_p.L360P	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	360					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CCCACTTCTCTGGAAGTCTCA	0.433																																																	0								ENSG00000174827						53	58	56					1																	145761266		2201	4296	6497	PDZK1	SO:0001583	missense	0			-	HGNC	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1079T>C	1.37:g.145761266T>C	ENSP00000342143:p.Leu360Pro	Somatic	0	214	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	155	16.67	B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP							pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L360P	ENST00000344770.2	37	c.1079	CCDS924.1	1	.	.	.	.	.	.	.	.	.	.	T	2.880	-0.231993	0.05983	.	.	ENSG00000174827	ENST00000417171;ENST00000451928;ENST00000344770	T;T;T	0.16457	2.34;2.34;2.34	5.38	-1.53	0.08611	PDZ/DHR/GLGF (1);	1.532860	0.03793	N	0.263163	T	0.02494	0.0076	N	0.12961	0.28	0.19300	N	0.999972	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.40194	-0.9576	10	0.21540	T	0.41	.	5.0411	0.14460	0.1389:0.3551:0.0:0.506	.	249;360	E7EU02;Q5T2W1	.;NHRF3_HUMAN	P	360;249;360	ENSP00000394485:L360P;ENSP00000403422:L249P;ENSP00000342143:L360P	ENSP00000342143:L360P	L	+	2	0	PDZK1	144472623	0.000000	0.05858	0.762000	0.31397	0.118000	0.20060	-0.351000	0.07711	0.046000	0.15833	-0.334000	0.08254	CTG	-	superfamily_PDZ		0.433	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	protein_coding	OTTHUMT00000038502.2	T	NM_002614	-		145761266	1	no_errors	ENST00000344770	ensembl	human	known	74_37	missense	SNP	0.001	C	C	145761266	T	C	145761266	3	2	229	1	0	0	0	0	1	0	0	0	11709	1580	55	5	1101	5	PDZK1	1	145761266	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	25704140	145761266	103489355	10	18398											
CRNN	49860	genome.wustl.edu	37	chr1	152382768	152382768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcagtccctctgttctGgtcattggtggcctcctgtg	12	12	4	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:152382768G>C	ENST00000271835.3	-	3	852	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	264	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTGTTCTGGTCATTGGTG	0.602																																																	0								ENSG00000143536						259	260	259					1																	152382768		2203	4300	6503	CRNN	SO:0001583	missense	0			-	HGNC	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.790C>G	1.37:g.152382768G>C	ENSP00000271835:p.Gln264Glu	Somatic	0	77	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	64	38.46	B2RE60|Q8N613	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q264E	ENST00000271835.3	37	c.790	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094946	0.56075	.	.	ENSG00000143536	ENST00000271835	T	0.04862	3.54	4.31	4.31	0.51392	.	0.825696	0.10559	N	0.660556	T	0.04497	0.0123	L	0.46157	1.445	0.28066	N	0.932772	P	0.47302	0.893	B	0.44315	0.446	T	0.21999	-1.0229	10	0.66056	D	0.02	.	12.4949	0.55923	0.0:0.0:1.0:0.0	.	264	Q9UBG3	CRNN_HUMAN	E	264	ENSP00000271835:Q264E	ENSP00000271835:Q264E	Q	-	1	0	CRNN	150649392	0.998000	0.40836	0.866000	0.34008	0.058000	0.15608	5.215000	0.65241	2.396000	0.81511	0.585000	0.79938	CAG	-	NULL		0.602	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	protein_coding	OTTHUMT00000034503.1	G	NM_016190	-		152382768	-1	no_errors	ENST00000271835	ensembl	human	known	74_37	missense	SNP	0.914	C	C	152382768	G	C	152382768	3	2	229	1	0	0	0	0	1	0	0	0	3894	1357	47	4	701	4	CRNN	1	152382768	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	6621502	152382768	96867853	11	18399											
ASH1L	55870	genome.wustl.edu	37	chr1	155447818	155447818	+	Frame_Shift_Del	DEL	T	T	-													ggagttagggtttgaaactcTgcagctgcctattgcacttg					rs151028549	byFrequency	TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:155447818delT	ENST00000368346.3	-	3	5482	c.4843delA	c.(4843-4845)agafs	p.R1615fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.R1615fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1615	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTGAAACTCTGCAGCTGCCT	0.473																																																	0								ENSG00000116539						94	98	97					1																	155447818		2203	4300	6503	ASH1L	SO:0001589	frameshift_variant	0				HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4843delA	1.37:g.155447818delT	ENSP00000357330:p.Arg1615fs	Somatic	0	51	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	57	17.39	Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL							pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R1615fs	ENST00000368346.3	37	c.4843		1																																																																																			-	NULL		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	T	NM_018489			155447818	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	155447818	T	-	155447818	7	5	229	1	0	1	0	1	0	0	0	0	1041	1588	55	0	4155	0	ASH1L	1	155447818	Frame_Shift_Del	DEL	T	TCGA-WP-A9GB-01A-11D-A37C-09	3065050	155447818	93802803	12	18400											
DUSP27	92235	genome.wustl.edu	37	chr1	167082993	167082993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagcattttcatggaaCccattcacctctcctcagcc	5	15	4	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:167082993C>A	ENST00000361200.2	+	3	323	c.157C>A	c.(157-159)Ccc>Acc	p.P53T	DUSP27_ENST00000271385.5_Missense_Mutation_p.P53T|DUSP27_ENST00000443333.1_Missense_Mutation_p.P53T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	53					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTTCATGGAACCCATTCACCT	0.458																																																	0								ENSG00000198842						222	201	208					1																	167082993		2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.157C>A	1.37:g.167082993C>A	ENSP00000354483:p.Pro53Thr	Somatic	0	49	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09	A0AUM4|Q9C074	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.P53T	ENST00000361200.2	37	c.157	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622555	0.87460	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.11277	2.79;2.79;2.79	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000002	T	0.16938	0.0407	L	0.34521	1.04	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.01553	-1.1326	10	0.66056	D	0.02	-29.9861	17.5593	0.87901	0.0:1.0:0.0:0.0	.	53	Q5VZP5	DUS27_HUMAN	T	53	ENSP00000354483:P53T;ENSP00000271385:P53T;ENSP00000404874:P53T	ENSP00000271385:P53T	P	+	1	0	DUSP27	165349617	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.919000	0.75793	2.644000	0.89710	0.561000	0.74099	CCC	-	NULL		0.458	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	C	NM_001080426	-		167082993	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167082993	C	A	167082993	3	1	229	1	0	0	0	0	1	0	0	0	4826	507	18	3	163	3	DUSP27	1	167082993	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	11635175	167082993	82167628	13	18401											
CFH	3075	genome.wustl.edu	37	chr1	196694299	196694299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtacacttagttcctgatcGcaagaaagaccagtataaag	8	8	0	3	rs138890387		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:196694299G>T	ENST00000367429.4	+	12	1985	c.1745G>T	c.(1744-1746)cGc>cTc	p.R582L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	582	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTCCTGATCGCAAGAAAGAC	0.348																																																	0								ENSG00000000971						74	65	68					1																	196694299		2203	4300	6503	CFH	SO:0001583	missense	0			-	HGNC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1745G>T	1.37:g.196694299G>T	ENSP00000356399:p.Arg582Leu	Somatic	0	20	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R582L	ENST00000367429.4	37	c.1745	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309039	0.23821	.	.	ENSG00000000971	ENST00000367429	T	0.72394	-0.65	5.74	2.72	0.32119	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.47340	0.1440	N	0.19112	0.55	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.10636	T	0.68	.	3.8213	0.08836	0.1718:0.5754:0.166:0.0867	.	582	P08603	CFAH_HUMAN	L	582	ENSP00000356399:R582L	ENSP00000356399:R582L	R	+	2	0	CFH	194960922	0.002000	0.14202	0.077000	0.20336	0.003000	0.03518	0.287000	0.18920	1.581000	0.49865	-0.134000	0.14843	CGC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.348	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	protein_coding	OTTHUMT00000086412.2	G	NM_000186	-		196694299	1	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	SNP	0.005	T	T	196694299	G	T	196694299	3	4	229	1	0	0	0	0	1	0	0	0	3285	1087	38	3	1809	3	CFH	1	196694299	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	29611306	196694299	52556322	14	18402											
KDM5B	10765	genome.wustl.edu	37	chr1	202702842	202702842	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgccacacaactggtgtggAaagcatccctgcagagttca	10	13	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:202702842A>T	ENST00000367265.3	-	23	4760	c.3596T>A	c.(3595-3597)tTc>tAc	p.F1199Y	KDM5B_ENST00000367264.2_Missense_Mutation_p.F1235Y	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1199					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACTGGTGTGGAAAGCATCCCT	0.488																																																	0								ENSG00000117139						61	63	63					1																	202702842		2203	4300	6503	KDM5B	SO:0001583	missense	0			-	HGNC	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3596T>A	1.37:g.202702842A>T	ENSP00000356234:p.Phe1199Tyr	Somatic	0	33	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP							pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.F1235Y	ENST00000367265.3	37	c.3704	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879414	0.91740	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85556	-2.0;-2.0;-2.0	6.09	6.09	0.99107	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);	0.043030	0.85682	D	0.000000	D	0.88865	0.6553	L	0.53780	1.695	0.80722	D	1	P;P	0.51351	0.944;0.934	P;P	0.55455	0.448;0.776	D	0.89383	0.3683	10	0.62326	D	0.03	-22.2269	16.6685	0.85259	1.0:0.0:0.0:0.0	.	1235;1199	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Y	1199;1041;1235;1041	ENSP00000356234:F1199Y;ENSP00000356233:F1235Y;ENSP00000235790:F1041Y	ENSP00000235790:F1041Y	F	-	2	0	KDM5B	200969465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.336000	0.79503	0.523000	0.50628	TTC	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.488	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	protein_coding	OTTHUMT00000099184.2	A	NM_006618	-		202702842	-1	no_errors	ENST00000367264	ensembl	human	known	74_37	missense	SNP	1.000	T	T	202702842	A	T	202702842	3	4	229	1	0	0	0	0	1	0	0	0	8136	246	9	5	1058	5	KDM5B	1	202702842	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	6008543	202702842	46547779	15	18403											
TMCC2	9911	genome.wustl.edu	37	chr1	205197803	205197803	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcggacctccggcctggggaGaccacgggtgctaactctgc	15	14	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:205197803G>T	ENST00000358024.3	+	1	500	c.111G>T	c.(109-111)gaG>gaT	p.E37D	TMCC2_ENST00000545499.1_5'Flank	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	37						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCTGGGGAGACCACGGGTG	0.672																																																	0								ENSG00000133069						24	28	27					1																	205197803		2201	4298	6499	TMCC2	SO:0001583	missense	0			-	HGNC	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.111G>T	1.37:g.205197803G>T	ENSP00000350718:p.Glu37Asp	Somatic	0	52	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	72	20.00	A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP							pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.E37D	ENST00000358024.3	37	c.111	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592292	0.66219	.	.	ENSG00000133069	ENST00000358024	T	0.34667	1.35	4.88	4.88	0.63580	.	0.220560	0.31797	N	0.007058	T	0.19366	0.0465	N	0.08118	0	0.80722	D	1	P	0.44690	0.841	B	0.36335	0.222	T	0.12502	-1.0545	10	0.87932	D	0	.	13.9102	0.63862	0.0:0.0:1.0:0.0	.	37	O75069	TMCC2_HUMAN	D	37	ENSP00000350718:E37D	ENSP00000350718:E37D	E	+	3	2	TMCC2	203464426	0.997000	0.39634	0.996000	0.52242	0.939000	0.58152	1.349000	0.33998	2.402000	0.81655	0.563000	0.77884	GAG	-	NULL		0.672	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	protein_coding	OTTHUMT00000090383.1	G	NM_014858	-		205197803	1	no_errors	ENST00000358024	ensembl	human	known	74_37	missense	SNP	1.000	T	T	205197803	G	T	205197803	3	4	229	1	0	0	0	0	1	0	0	0	16000	933	33	3	113	3	TMCC2	1	205197803	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	2494961	205197803	44052818	16	18404											
C1orf74	148304	genome.wustl.edu	37	chr1	209956204	209956204	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccggcagtgtgactatctcaGaggagatgctgagatcagca	13	9	2	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:209956204G>T	ENST00000294811.1	-	2	1032	c.776C>A	c.(775-777)tCt>tAt	p.S259Y		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	259										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GACTATCTCAGAGGAGATGCT	0.483																																																	0								ENSG00000162757						108	115	112					1																	209956204		2203	4300	6503	C1orf74	SO:0001583	missense	0			-	HGNC	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.776C>A	1.37:g.209956204G>T	ENSP00000294811:p.Ser259Tyr	Somatic	0	28	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64		Missense_Mutation	SNP							NULL	p.S259Y	ENST00000294811.1	37	c.776	CCDS1491.1	1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842419	0.51057	.	.	ENSG00000162757	ENST00000294811	T	0.47177	0.85	5.75	3.87	0.44632	.	0.516627	0.18153	N	0.150027	T	0.40473	0.1118	L	0.51422	1.61	0.09310	N	1	B	0.21071	0.051	B	0.19391	0.025	T	0.38950	-0.9637	10	0.66056	D	0.02	-6.9742	7.4314	0.27131	0.0686:0.1299:0.6812:0.1203	.	259	Q96LT6	CA074_HUMAN	Y	259	ENSP00000294811:S259Y	ENSP00000294811:S259Y	S	-	2	0	C1orf74	208022827	0.991000	0.36638	0.950000	0.38849	0.998000	0.95712	2.759000	0.47573	0.765000	0.33221	0.655000	0.94253	TCT	-	NULL		0.483	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	protein_coding	OTTHUMT00000088745.1	G	NM_152485	-		209956204	-1	no_errors	ENST00000294811	ensembl	human	known	74_37	missense	SNP	0.001	T	T	209956204	G	T	209956204	3	4	229	1	0	0	0	0	1	0	0	0	2060	942	33	3	37	3	C1orf74	1	209956204	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	4758401	209956204	39294417	17	18405											
EPRS	2058	genome.wustl.edu	37	chr1	220213589	220213589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgacatcgtctttcacGtgttctactgccagcaaagc	8	12	3	1	rs200180155	byFrequency	TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:220213589G>T	ENST00000366923.3	-	2	338	c.69C>A	c.(67-69)caC>caA	p.H23Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	23					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CGTCTTTCACGTGTTCTACTG	0.318																																																	0								ENSG00000136628						93	102	99					1																	220213589		2203	4300	6503	EPRS	SO:0001583	missense	0			-	HGNC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.69C>A	1.37:g.220213589G>T	ENSP00000355890:p.His23Gln	Somatic	0	41	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP							pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.H23Q	ENST00000366923.3	37	c.69	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.671997	0.47781	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06371	3.31	4.8	-0.452	0.12205	.	0.046249	0.85682	D	0.000000	T	0.16854	0.0405	M	0.70275	2.135	0.47245	D	0.999364	D;D	0.76494	0.998;0.999	D;D	0.67548	0.952;0.915	T	0.00773	-1.1572	10	0.29301	T	0.29	-26.0144	10.5182	0.44903	0.5269:0.0:0.4731:0.0	.	23;23	Q3KQZ8;P07814	.;SYEP_HUMAN	Q	23	ENSP00000355890:H23Q	ENSP00000355890:H23Q	H	-	3	2	EPRS	218280212	0.666000	0.27475	0.993000	0.49108	0.804000	0.45430	-0.029000	0.12329	-0.224000	0.09928	-0.505000	0.04504	CAC	-	NULL		0.318	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	protein_coding	OTTHUMT00000091133.2	G	NM_004446	-		220213589	-1	no_errors	ENST00000366923	ensembl	human	known	74_37	missense	SNP	0.997	T	T	220213589	G	T	220213589	3	4	229	1	0	0	0	0	1	0	0	0	5193	1136	40	3	4593	3	EPRS	1	220213589	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	10257385	220213589	29037032	18	18406											
OR2M3	127062	genome.wustl.edu	37	chr1	248366777	248366777	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctaagatacaccaatctcatGagccctaaaatttgtggact	6	10	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr1:248366777G>C	ENST00000456743.1	+	1	446	c.408G>C	c.(406-408)atG>atC	p.M136I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	136						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)			CCAATCTCATGAGCCCTAAAA	0.443																																																	0								ENSG00000228198						216	216	216					1																	248366777		2203	4300	6503	OR2M3	SO:0001583	missense	0			-	HGNC		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.408G>C	1.37:g.248366777G>C	ENSP00000389625:p.Met136Ile	Somatic	0	132	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	72	28.00	B9EH06|Q6IEY0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136I	ENST00000456743.1	37	c.408	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877669	0.33162	.	.	ENSG00000228198	ENST00000456743	T	0.00551	6.65	2.55	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	U	0.001631	T	0.01092	0.0036	M	0.86953	2.85	0.26784	N	0.969532	B	0.26195	0.144	B	0.30572	0.117	T	0.12293	-1.0553	10	0.56958	D	0.05	.	13.1134	0.59288	0.0:0.0:1.0:0.0	.	136	Q8NG83	OR2M3_HUMAN	I	136	ENSP00000389625:M136I	ENSP00000389625:M136I	M	+	3	0	OR2M3	246433400	0.993000	0.37304	0.176000	0.23000	0.010000	0.07245	1.617000	0.36943	1.425000	0.47237	0.405000	0.27470	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.443	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	protein_coding	OTTHUMT00000097355.1	G	NM_001004689	-		248366777	1	no_errors	ENST00000456743	ensembl	human	known	74_37	missense	SNP	0.977	C	C	248366777	G	C	248366777	3	2	229	1	0	0	0	0	1	0	0	0	11013	1290	45	4	410	4	OR2M3	1	248366777	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	28153188	248366777	883844	19	18407											
GREB1	9687	genome.wustl.edu	37	chr2	11765428	11765428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgcactatcagggtatAaagagtgaaggtcagacttt	11	6	2	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:11765428A>G	ENST00000381486.2	+	24	4596	c.4296A>G	c.(4294-4296)atA>atG	p.I1432M	GREB1_ENST00000396123.1_Missense_Mutation_p.I430M|GREB1_ENST00000234142.5_Missense_Mutation_p.I1432M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1432						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)		ATCAGGGTATAAAGAGTGAAG	0.468																																					Ovarian(39;850 945 2785 23371 33093)												0								ENSG00000196208						226	210	215					2																	11765428		1906	4129	6035	GREB1	SO:0001583	missense	0			-	HGNC		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.4296A>G	2.37:g.11765428A>G	ENSP00000370896:p.Ile1432Met	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.I1432M	ENST00000381486.2	37	c.4296	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	A	2.707	-0.269747	0.05716	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.23147	3.24;3.24;1.92	4.87	-8.19	0.01049	.	1.080900	0.06913	N	0.808094	T	0.17492	0.0420	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.25537	-1.0129	10	0.30854	T	0.27	0.0274	11.8408	0.52353	0.1874:0.325:0.4876:0.0	.	1432	Q4ZG55	GREB1_HUMAN	M	1432;1432;430	ENSP00000370896:I1432M;ENSP00000234142:I1432M;ENSP00000379429:I430M	ENSP00000234142:I1432M	I	+	3	3	GREB1	11682879	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.776000	0.04674	-1.736000	0.01352	-0.441000	0.05720	ATA	-	NULL		0.468	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	A	NM_014668	-		11765428	1	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	SNP	0.002	G	G	11765428	A	G	11765428	3	3	229	1	0	0	0	0	1	0	0	0	6762	352	13	5	4494	5	GREB1	2	11765428	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09		11765428	231433945	20	18408											
PRKD3	23683	genome.wustl.edu	37	chr2	37505106	37505106	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtacaaccctcattAgcggaatattattgcttgtt	8	7	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:37505106A>T	ENST00000379066.1	-	9	1961	c.1199T>A	c.(1198-1200)cTa>cAa	p.L400Q	PRKD3_ENST00000234179.2_Missense_Mutation_p.L400Q			O94806	KPCD3_HUMAN	protein kinase D3	400					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)				AACCCTCATTAGCGGAATATT	0.368																																					Melanoma(80;621 1355 8613 11814 51767)												0								ENSG00000115825						196	161	173					2																	37505106		2203	4300	6503	PRKD3	SO:0001583	missense	0			-	HGNC	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.1199T>A	2.37:g.37505106A>T	ENSP00000368356:p.Leu400Gln	Somatic	0	53	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	8	61.90	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L400Q	ENST00000379066.1	37	c.1199	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728408	0.89390	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.80738	-1.41;-1.41	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	D	0.89223	0.6654	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90575	0.4525	10	0.87932	D	0	-13.8777	15.4495	0.75262	1.0:0.0:0.0:0.0	.	400;400	O94806-2;O94806	.;KPCD3_HUMAN	Q	400	ENSP00000368356:L400Q;ENSP00000234179:L400Q	ENSP00000234179:L400Q	L	-	2	0	PRKD3	37358610	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	9.335000	0.96500	2.044000	0.60594	0.533000	0.62120	CTA	-	NULL		0.368	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	protein_coding	OTTHUMT00000218570.3	A	NM_005813	-		37505106	-1	no_errors	ENST00000234179	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37505106	A	T	37505106	3	4	229	1	0	0	0	0	1	0	0	0	12525	420	15	5	1517	5	PRKD3	2	37505106	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	25739678	37505106	205694267	21	18409											
ACTG2	72	genome.wustl.edu	37	chr2	74140730	74140730	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtgacctcacggactacctCatgaagatcctcacagagag	9	13	3	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:74140730C>T	ENST00000409624.1	+	7	1213	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ACTG2_ENST00000409731.3_Silent_p.L147L|ACTG2_ENST00000345517.3_Silent_p.L190L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	190					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						CGGACTACCTCATGAAGATCC	0.537																																																	0								ENSG00000163017						149	130	136					2																	74140730		2203	4300	6503	ACTG2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.570C>T	2.37:g.74140730C>T		Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Silent	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L190	ENST00000409624.1	37	c.570	CCDS1930.1	2																																																																																			-	pfam_Actin-related,smart_Actin-related		0.537	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	protein_coding	OTTHUMT00000328086.1	C	NM_001615	-		74140730	1	no_errors	ENST00000345517	ensembl	human	known	74_37	silent	SNP	1.000	T	T	74140730	C	T	74140730	2	4	229	1	0	0	0	0	0	0	0	1	197	813	29	2		2	ACTG2	2	74140730	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	36635624	74140730	169058643	22	18410											
TET3	200424	genome.wustl.edu	37	chr2	74320711	74320711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgaaggaaggacggcCcttcgcgggggtcacggcct	19	11	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:74320711C>T	ENST00000409262.3	+	7	2780	c.2780C>T	c.(2779-2781)cCc>cTc	p.P927L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	927					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGGACGGCCCTTCGCGGGG	0.597																																																	0								ENSG00000187605						69	74	72					2																	74320711		2052	4214	6266	TET3	SO:0001583	missense	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2780C>T	2.37:g.74320711C>T	ENSP00000386869:p.Pro927Leu	Somatic	0	48	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	1	95.65	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP							NULL	p.P927L	ENST00000409262.3	37	c.2780	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566076	0.86439	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14640	2.49	5.21	4.33	0.51752	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41610	-0.9499	10	0.87932	D	0	.	13.0025	0.58683	0.0:0.9208:0.0:0.0792	.	927	O43151	TET3_HUMAN	L	927	ENSP00000386869:P927L	ENSP00000233310:P927L	P	+	2	0	TET3	74174219	1.000000	0.71417	0.821000	0.32701	0.839000	0.47603	7.651000	0.83577	1.420000	0.47138	0.655000	0.94253	CCC	-	NULL		0.597	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	C		-		74320711	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74320711	C	T	74320711	3	4	229	1	0	0	0	0	1	0	0	0	15778	623	22	2	2806	2	TET3	2	74320711	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	179981	74320711	168878662	23	18411											
GPR45	11250	genome.wustl.edu	37	chr2	105859094	105859094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcagcgtggacttgaGcttcaagaccaaggccttca	11	11	3	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:105859094G>A	ENST00000258456.1	+	1	895	c.779G>A	c.(778-780)aGc>aAc	p.S260N		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	260						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(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GTGGACTTGAGCTTCAAGACC	0.642																																																	0								ENSG00000135973						168	164	166					2																	105859094		2203	4300	6503	GPR45	SO:0001583	missense	0			-	HGNC	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.779G>A	2.37:g.105859094G>A	ENSP00000258456:p.Ser260Asn	Somatic	0	38	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q6NWS4|Q6NXU6	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S260N	ENST00000258456.1	37	c.779	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249282	0.80024	.	.	ENSG00000135973	ENST00000258456	T	0.37584	1.19	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.82517	2.595	0.54753	D	0.999983	D	0.76494	0.999	D	0.74674	0.984	T	0.64914	-0.6295	10	0.52906	T	0.07	-30.7428	12.525	0.56081	0.0837:0.0:0.9163:0.0	.	260	Q9Y5Y3	GPR45_HUMAN	N	260	ENSP00000258456:S260N	ENSP00000258456:S260N	S	+	2	0	GPR45	105225526	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.396000	0.59684	2.262000	0.75019	0.462000	0.41574	AGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.642	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	protein_coding	OTTHUMT00000253348.1	G	NM_007227	-		105859094	1	no_errors	ENST00000258456	ensembl	human	known	74_37	missense	SNP	1.000	A	A	105859094	G	A	105859094	3	1	229	1	0	0	0	0	1	0	0	0	6698	971	34	2	781	2	GPR45	2	105859094	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	31538383	105859094	137340279	24	18412											
PSD4	23550	genome.wustl.edu	37	chr2	113940242	113940242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctccctggggctccggtgTggagctcacacacctgggga	14	14	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:113940242T>A	ENST00000245796.6	+	2	404	c.209T>A	c.(208-210)gTg>gAg	p.V70E	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Missense_Mutation_p.V70E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	70					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTCCGGTGTGGAGCTCACA	0.607																																																	0								ENSG00000125637						53	53	53					2																	113940242		2203	4300	6503	PSD4	SO:0001583	missense	0			-	HGNC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.209T>A	2.37:g.113940242T>A	ENSP00000245796:p.Val70Glu	Somatic	0	49	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.V70E	ENST00000245796.6	37	c.209	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616818	0.46736	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.12879	2.66;2.64	2.6	-0.603	0.11630	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	P;P	0.41498	0.752;0.637	B;B	0.32583	0.148;0.07	T	0.33624	-0.9861	9	0.52906	T	0.07	.	6.2378	0.20772	0.0:0.0:0.5365:0.4635	.	70;70	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	E	70	ENSP00000245796:V70E;ENSP00000413997:V70E	ENSP00000245796:V70E	V	+	2	0	PSD4	113656713	0.002000	0.14202	0.019000	0.16419	0.206000	0.24218	-0.202000	0.09451	0.165000	0.19558	0.172000	0.16884	GTG	-	NULL		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	protein_coding	OTTHUMT00000330789.1	T	NM_012455	-		113940242	1	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	SNP	0.002	A	A	113940242	T	A	113940242	3	1	229	1	0	0	0	0	1	0	0	0	12654	1696	59	5	211	5	PSD4	2	113940242	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	8081148	113940242	129259131	25	18413											
MYO7B	4648	genome.wustl.edu	37	chr2	128327409	128327409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaccaccaagctcatcctGcagttcctggccaccatcag	8	16	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:128327409G>A	ENST00000409816.2	+	5	548	c.516G>A	c.(514-516)ctG>ctA	p.L172L	MYO7B_ENST00000428314.1_Silent_p.L172L|MYO7B_ENST00000389524.4_Silent_p.L172L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	172	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTCATCCTGCAGTTCCTGG	0.567																																																	0								ENSG00000169994						37	40	39					2																	128327409		2013	4163	6176	MYO7B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.516G>A	2.37:g.128327409G>A		Somatic	0	51	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q14786|Q8TEE1	Silent	SNP							pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.L172	ENST00000409816.2	37	c.516	CCDS46405.1	2																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.567	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	G	XM_291001	-		128327409	1	no_errors	ENST00000389524	ensembl	human	known	74_37	silent	SNP	1.000	A	A	128327409	G	A	128327409	2	1	229	1	0	0	0	0	0	0	0	1	10085	1306	46	2		2	MYO7B	2	128327409	Silent	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	14387167	128327409	114871964	26	18414											
ALS2CR8	79800	genome.wustl.edu	37	chr2	203848307	203848308	+	Frame_Shift_Ins	INS	-	-	A													ccagcattgtctatggaagcINSaaaaaaaactgtggactata					rs201520695	byFrequency	TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:203848307_203848308insA	ENST00000402905.3	+	16	2459_2460	c.2138_2139insA	c.(2137-2142)gcaaaafs	p.AK713fs	WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_Frame_Shift_Ins_p.AK713fs|CARF_ENST00000545253.1_Frame_Shift_Ins_p.AK625fs|CARF_ENST00000428585.1_Frame_Shift_Ins_p.AK637fs|CARF_ENST00000438828.2_Frame_Shift_Ins_p.AK713fs|CARF_ENST00000414439.1_Frame_Shift_Ins_p.AK611fs|CARF_ENST00000545262.1_Frame_Shift_Ins_p.AK637fs	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	713					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTATGGAAGCAAAAAAAACTG	0.327													aAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	4	0.000798722	0	0.0014	5008	,	,		15628	0		0.003	False		,,,				2504	0																0								ENSG00000138380		,	4,3484		0,4,1740					,	3.1	0.9			85	60,7742		0,60,3841	no	frameshift,frameshift	ALS2CR8	NM_024744.14,NM_001104586.1	,	0,64,5581	A1A1,A1R,RR		0.769,0.1147,0.5669	,	,		64,11226				CARF	SO:0001589	frameshift_variant	0				HGNC	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.2146dupA	2.37:g.203848315_203848315dupA	ENSP00000384006:p.Ala713fs	Somatic	0	65	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Frame_Shift_Ins	INS							NULL	p.T716fs	ENST00000402905.3	37	c.2138_2139	CCDS42801.1	2																																																																																			-	NULL		0.327	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	protein_coding	OTTHUMT00000335768.5	-	NM_001104586			203848308	1	no_errors	ENST00000320443	ensembl	human	known	74_37	frame_shift_ins	INS	0.949:0.979	A	A	203848308	-	A	203848307	7	5	229	1	0	1	1	0	0	0	0	0	555	710	25	0	2192	0	ALS2CR8	2	203848307	Frame_Shift_Ins	INS	-	TCGA-WP-A9GB-01A-11D-A37C-09	75520898	203848307	39351066	27	18415											
ABCA12	26154	genome.wustl.edu	37	chr2	215818746	215818746	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaggaccgactgttgttgaGaaagttcaatcaaaccgtag	10	8	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:215818746G>T	ENST00000272895.7	-	44	6698	c.6479C>A	c.(6478-6480)tCt>tAt	p.S2160Y	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S1842Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2160					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTTGTTGAGAAAGTTCAAT	0.373																																					Ovarian(66;664 1488 5121 34295)												0								ENSG00000144452						104	106	105					2																	215818746		2203	4300	6503	ABCA12	SO:0001583	missense	0			-	HGNC	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6479C>A	2.37:g.215818746G>T	ENSP00000272895:p.Ser2160Tyr	Somatic	0	49	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	13.79	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2160Y	ENST00000272895.7	37	c.6479	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154008	0.78114	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87334	-2.24;-2.24	5.97	5.1	0.69264	.	1.265650	0.05105	N	0.487822	D	0.93481	0.7920	M	0.64997	1.995	0.80722	D	1	P;D	0.71674	0.93;0.998	P;D	0.74348	0.732;0.983	D	0.83910	0.0295	10	0.62326	D	0.03	.	15.4012	0.74843	0.0666:0.0:0.9334:0.0	.	2160;1842	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	2160;1842	ENSP00000272895:S2160Y;ENSP00000374312:S1842Y	ENSP00000272895:S2160Y	S	-	2	0	ABCA12	215526991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.048000	0.93830	1.536000	0.49237	0.655000	0.94253	TCT	-	NULL		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	protein_coding	OTTHUMT00000337111.1	G	NM_173076	-		215818746	-1	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	SNP	1.000	T	T	215818746	G	T	215818746	3	4	229	1	0	0	0	0	1	0	0	0	30	942	33	3	1348	3	ABCA12	2	215818746	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	11970439	215818746	27380627	28	18416											
VIL1	7429	genome.wustl.edu	37	chr2	219296835	219296835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaggccacttctatgggGgcgactgctacctgctgctc	13	13	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:219296835G>A	ENST00000248444.5	+	12	1358	c.1270G>A	c.(1270-1272)Ggc>Agc	p.G424S	VIL1_ENST00000392114.2_Missense_Mutation_p.G113S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	424	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTATGGGGGCGACTGCTA	0.597																																																	0								ENSG00000127831						94	72	79					2																	219296835		2203	4300	6503	VIL1	SO:0001583	missense	0			-	HGNC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1270G>A	2.37:g.219296835G>A	ENSP00000248444:p.Gly424Ser	Somatic	0	25	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP							pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.G424S	ENST00000248444.5	37	c.1270	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022892	0.54683	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.59083	1.37;0.29	4.57	3.69	0.42338	Gelsolin domain (1);	0.142245	0.45867	D	0.000324	T	0.80628	0.4659	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85050	0.0928	10	0.72032	D	0.01	-17.7859	12.7092	0.57080	0.0799:0.0:0.9201:0.0	.	424	P09327	VILI_HUMAN	S	424;113	ENSP00000248444:G424S;ENSP00000375962:G113S	ENSP00000248444:G424S	G	+	1	0	VIL1	219005079	1.000000	0.71417	0.178000	0.23040	0.002000	0.02628	9.642000	0.98461	1.162000	0.42619	-0.258000	0.10820	GGC	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin		0.597	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	protein_coding	OTTHUMT00000256778.3	G	NM_007127	-		219296835	1	no_errors	ENST00000248444	ensembl	human	known	74_37	missense	SNP	1.000	A	A	219296835	G	A	219296835	3	1	229	1	0	0	0	0	1	0	0	0	17171	1232	43	2	1312	2	VIL1	2	219296835	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	3478089	219296835	23902538	29	18417											
CYP27A1	1593	genome.wustl.edu	37	chr2	219647127	219647127	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttcagctgttcgtTcaaggctatgccctgcaact	7	12	4	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr2:219647127T>G	ENST00000258415.4	+	1	649	c.222T>G	c.(220-222)gtT>gtG	p.V74V		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	74					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AGCTGTTCGTTCAAGGCTATG	0.632																																																	0								ENSG00000135929						77	68	71					2																	219647127		2203	4300	6503	CYP27A1	SO:0001819	synonymous_variant	0			-	HGNC	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.222T>G	2.37:g.219647127T>G		Somatic	0	47	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	36.00	A8K303|Q6LDB4|Q86YQ6	Silent	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V74	ENST00000258415.4	37	c.222	CCDS2423.1	2																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.632	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	protein_coding	OTTHUMT00000109734.4	T		-		219647127	1	no_errors	ENST00000258415	ensembl	human	known	74_37	silent	SNP	0.091	G	G	219647127	T	G	219647127	2	3	229	1	0	0	0	0	0	0	0	1	4160	1770	62	5		5	CYP27A1	2	219647127	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	350292	219647127	23552246	30	18418											
C3orf20	84077	genome.wustl.edu	37	chr3	14755555	14755555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtcagatccccacatGctgcagagggagaaccatca	10	11	2	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:14755555G>T	ENST00000253697.3	+	8	1654	c.1202G>T	c.(1201-1203)tGc>tTc	p.C401F	C3orf20_ENST00000412910.1_Missense_Mutation_p.C279F|C3orf20_ENST00000435614.1_Missense_Mutation_p.C279F|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	401						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATCCCCACATGCTGCAGAGGG	0.493																																																	0								ENSG00000131379						123	110	115					3																	14755555		2203	4300	6503	C3orf20	SO:0001583	missense	0			-	HGNC	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1202G>T	3.37:g.14755555G>T	ENSP00000253697:p.Cys401Phe	Somatic	0	30	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP							NULL	p.C401F	ENST00000253697.3	37	c.1202	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824173	0.71143	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09073	3.31;3.02;3.02	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000032	T	0.27663	0.0680	M	0.68317	2.08	0.45272	D	0.998276	D	0.89917	1.0	D	0.91635	0.999	T	0.00226	-1.1900	10	0.66056	D	0.02	-25.9091	15.0333	0.71725	0.0:0.0:1.0:0.0	.	401	Q8ND61	CC020_HUMAN	F	401;279;279	ENSP00000253697:C401F;ENSP00000402933:C279F;ENSP00000396081:C279F	ENSP00000253697:C401F	C	+	2	0	C3orf20	14730559	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.817000	0.62650	2.608000	0.88229	0.591000	0.81541	TGC	-	NULL		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	protein_coding	OTTHUMT00000340586.1	G	NM_032137	-		14755555	1	no_errors	ENST00000253697	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14755555	G	T	14755555	3	4	229	1	0	0	0	0	1	0	0	0	2215	1319	46	3	1224	3	C3orf20	3	14755555	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09		14755555	183266875	31	18419											
THRB	7068	genome.wustl.edu	37	chr3	24164567	24164567	+	Silent	SNP	A	A	G													tgttcaaaggccagcaggaaActatcttggtacttttctat							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:24164567A>G	ENST00000356447.4	-	10	1478	c.1194T>C	c.(1192-1194)agT>agC	p.S398S	THRB_ENST00000280696.5_Silent_p.S413S|THRB_ENST00000416420.1_Silent_p.S398S|THRB_ENST00000396671.2_Silent_p.S398S	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	398	Interaction with NR2F6.|Ligand-binding.				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)	CCAGCAGGAAACTATCTTGGT	0.478																																					Melanoma(21;896 1043 15021 37958)												0								ENSG00000151090						124	131	129					3																	24164567		2203	4300	6503	THRB	SO:0001819	synonymous_variant	0			-	HGNC		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.1194T>C	3.37:g.24164567A>G		Somatic	0	79	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	85	9.57	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S398	ENST00000356447.4	37	c.1194	CCDS2641.1	3																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.478	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	THRB	protein_coding	OTTHUMT00000252877.3	A	NM_000461	-		24164567	-1	no_errors	ENST00000356447	ensembl	human	known	74_37	silent	SNP	1.000	G	G	24164567	A	G	24164567	2	3	229	1	0	0	0	0	0	0	0	1	15882	40	2	5		5	THRB	3	24164567	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	9409012	24164567	173857863	32	18420	490	2									
THRB	7068	genome.wustl.edu	37	chr3	24164570	24164570	+	Silent	SNP	A	A	G													tcaaaggccagcaggaaactAtcttggtacttttctattct							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:24164570A>G	ENST00000356447.4	-	10	1475	c.1191T>C	c.(1189-1191)gaT>gaC	p.D397D	THRB_ENST00000280696.5_Silent_p.D412D|THRB_ENST00000416420.1_Silent_p.D397D|THRB_ENST00000396671.2_Silent_p.D397D	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	397	Interaction with NR2F6.|Ligand-binding.				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)	GCAGGAAACTATCTTGGTACT	0.478																																					Melanoma(21;896 1043 15021 37958)												0								ENSG00000151090						121	128	126					3																	24164570		2203	4300	6503	THRB	SO:0001819	synonymous_variant	0			-	HGNC		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.1191T>C	3.37:g.24164570A>G		Somatic	0	79	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	79	10.23	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D397	ENST00000356447.4	37	c.1191	CCDS2641.1	3																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.478	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	THRB	protein_coding	OTTHUMT00000252877.3	A	NM_000461	-		24164570	-1	no_errors	ENST00000356447	ensembl	human	known	74_37	silent	SNP	1.000	G	G	24164570	A	G	24164570	2	3	229	1	0	0	0	0	0	0	0	1	15882	446	16	5		5	THRB	3	24164570	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	3	24164570	173857860	33	18421	490	2									
GADL1	339896	genome.wustl.edu	37	chr3	30842399	30842399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctagataaagcaagagcaCgattaactctttcttcaagg	7	9	3	2	rs530115326		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:30842399C>G	ENST00000282538.5	-	12	1382	c.1232G>C	c.(1231-1233)cGt>cCt	p.R411P	GADL1_ENST00000454381.3_Missense_Mutation_p.R411P	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	411					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						AGCAAGAGCACGATTAACTCT	0.473																																																	0								ENSG00000144644						117	109	112					3																	30842399		2203	4300	6503	GADL1	SO:0001583	missense	0			-	HGNC	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1232G>C	3.37:g.30842399C>G	ENSP00000282538:p.Arg411Pro	Somatic	0	45	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93		Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.R411P	ENST00000282538.5	37	c.1232	CCDS2649.2	3	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551078	0.65311	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.44482	0.92;0.92	5.47	4.6	0.57074	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.121374	0.51477	D	0.000087	T	0.68723	0.3032	M	0.90650	3.135	0.40883	D	0.98401	D	0.67145	0.996	D	0.67725	0.953	T	0.76539	-0.2922	10	0.54805	T	0.06	.	14.4309	0.67249	0.0:0.9284:0.0:0.0716	.	411	Q6ZQY3	GADL1_HUMAN	P	411	ENSP00000282538:R411P;ENSP00000427059:R411P	ENSP00000282538:R411P	R	-	2	0	GADL1	30817403	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	3.754000	0.55189	1.310000	0.45006	0.585000	0.79938	CGT	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.473	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADL1	protein_coding	OTTHUMT00000253106.2	C	NM_207359	-		30842399	-1	no_errors	ENST00000282538	ensembl	human	known	74_37	missense	SNP	0.970	G	G	30842399	C	G	30842399	3	3	229	1	0	0	0	0	1	0	0	0	6187	536	19	4	349	4	GADL1	3	30842399	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	6677829	30842399	167180031	34	18422											
NBEAL2	23218	genome.wustl.edu	37	chr3	47045620	47045620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgtgaggtccacctgCggcgtttcaacctgcgccgt	13	14	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:47045620C>T	ENST00000450053.3	+	37	6114	c.5935C>T	c.(5935-5937)Cgg>Tgg	p.R1979W	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R258W|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1795W	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1979					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGTCCACCTGCGGCGTTTCAA	0.602																																																	0								ENSG00000160796						160	173	169					3																	47045620		2096	4208	6304	NBEAL2	SO:0001583	missense	0			-	HGNC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5935C>T	3.37:g.47045620C>T	ENSP00000415034:p.Arg1979Trp	Somatic	0	41	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1979W	ENST00000450053.3	37	c.5935	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.110068|4.110068	0.77210|0.77210	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000292309;ENST00000383740;ENST00000450053	.|T;T;T	.|0.70986	.|-0.37;-0.03;-0.53	4.92|4.92	4.01|4.01	0.46588|0.46588	.|PH-BEACH domain (1);	.|0.168990	.|0.49305	.|D	.|0.000150	D|D	0.84392|0.84392	0.5462|0.5462	M|M	0.86028|0.86028	2.79|2.79	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.86716|0.86716	0.1939|0.1939	5|10	.|0.87932	.|D	.|0	.|.	13.48|13.48	0.61330|0.61330	0.1565:0.8435:0.0:0.0|0.1565:0.8435:0.0:0.0	.|.	.|1795;1979	.|Q6ZNJ1-2;Q6ZNJ1	.|.;NBEL2_HUMAN	V|W	347|1795;258;1979	.|ENSP00000292309:R1795W;ENSP00000373246:R258W;ENSP00000415034:R1979W	.|ENSP00000292309:R1795W	A|R	+|+	2|1	0|2	NBEAL2|NBEAL2	47020624|47020624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.936000|4.936000	0.63506|0.63506	2.573000|2.573000	0.86826|0.86826	0.561000|0.561000	0.74099|0.74099	GCG|CGG	-	NULL		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	protein_coding	OTTHUMT00000344363.3	C	XM_291064	-		47045620	1	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47045620	C	T	47045620	3	4	229	1	0	0	0	0	1	0	0	0	10191	759	27	1	6081	1	NBEAL2	3	47045620	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	16203221	47045620	150976810	35	18423											
CSPG5	10675	genome.wustl.edu	37	chr3	47618467	47618467	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccattttcactggaggccAagtccctgcctggctctcct	9	15	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:47618467A>T	ENST00000383738.2	-	2	3147	c.1049T>A	c.(1048-1050)tTg>tAg	p.L350*	CSPG5_ENST00000264723.4_Nonsense_Mutation_p.L350*|CSPG5_ENST00000456150.1_Nonsense_Mutation_p.L212*|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	350					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTGGAGGCCAAGTCCCTGCC	0.632																																																	0								ENSG00000114646						55	57	57					3																	47618467		2203	4300	6503	CSPG5	SO:0001587	stop_gained	0			-	HGNC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1049T>A	3.37:g.47618467A>T	ENSP00000373244:p.Leu350*	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	Q71M39|Q71M40	Nonsense_Mutation	SNP							pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.L350*	ENST00000383738.2	37	c.1049	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	A	51	18.309812	0.99903	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	.	.	.	4.19	4.19	0.49359	.	0.416966	0.22245	N	0.062624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3636	7.7751	0.29033	0.8991:0.0:0.1009:0.0	.	.	.	.	X	212;350;350	.	ENSP00000264723:L350X	L	-	2	0	CSPG5	47593471	0.967000	0.33354	1.000000	0.80357	0.455000	0.32408	1.142000	0.31540	1.753000	0.51906	0.533000	0.62120	TTG	-	NULL		0.632	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	protein_coding	OTTHUMT00000257489.1	A	NM_006574	-		47618467	-1	no_errors	ENST00000383738	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	47618467	A	T	47618467	4	4	229	1	0	0	0	0	0	1	0	0	3963	131	5	5	586	5	CSPG5	3	47618467	Nonsense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	572847	47618467	150403963	36	18424											
DALRD3	55152	genome.wustl.edu	37	chr3	49055208	49055209	+	Frame_Shift_Del	DEL	CT	CT	-													cctcagggtgtgggaggaagCtctctccgaggcagcgggcc							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:49055208_49055209delCT	ENST00000341949.4	-	3	561_562	c.555_556delAG	c.(553-558)agagctfs	p.RA185fs	DALRD3_ENST00000395462.4_Frame_Shift_Del_p.RA18fs|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000441576.2_Frame_Shift_Del_p.RA185fs|DALRD3_ENST00000440857.1_Frame_Shift_Del_p.RA18fs|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000313778.5_Frame_Shift_Del_p.RA18fs|NDUFAF3_ENST00000326912.4_5'Flank|MIR191_ENST00000384873.1_RNA	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	185					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGGAGGAAGCTCTCTCCGAGG	0.619																																																	0								ENSG00000178149																																			DALRD3	SO:0001589	frameshift_variant	0				HGNC	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.555_556delAG	3.37:g.49055212_49055213delCT	ENSP00000344989:p.Arg185fs	Somatic	0	87	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Frame_Shift_Del	DEL							pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.R185fs	ENST00000341949.4	37	c.556_555	CCDS33754.1	3																																																																																			-	NULL		0.619	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	protein_coding	OTTHUMT00000345581.1	CT	NM_018114			49055209	-1	no_errors	ENST00000341949	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000	-	-	49055209	CT	-	49055208	7	5	229	1	0	1	0	1	0	0	0	0	4231	797	28	0	1115	0	DALRD3	3	49055208	Frame_Shift_Del	DEL	CT	TCGA-WP-A9GB-01A-11D-A37C-09	1436741	49055208	148967222	37	18425											
PHLDB2	90102	genome.wustl.edu	37	chr3	111638036	111638036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaaatcaaagacataaatGatcagatggatgagtctttc	7	5	3	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:111638036G>T	ENST00000431670.2	+	4	2248	c.1837G>T	c.(1837-1839)Gat>Tat	p.D613Y	PHLDB2_ENST00000393923.3_Missense_Mutation_p.D640Y|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D613Y|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D199Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D613Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D613Y	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	613						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGACATAAATGATCAGATGGA	0.373																																																	0								ENSG00000144824						110	111	111					3																	111638036		2203	4300	6503	PHLDB2	SO:0001583	missense	0			-	HGNC		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1837G>T	3.37:g.111638036G>T	ENSP00000405405:p.Asp613Tyr	Somatic	0	29	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D613Y	ENST00000431670.2	37	c.1837	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743873	0.69418	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.34667	1.42;1.46;1.43;1.43;1.46;1.43;1.35	5.41	5.41	0.78517	.	0.051668	0.85682	D	0.000000	T	0.54886	0.1886	L	0.51422	1.61	0.45718	D	0.998629	P;D;D;D	0.76494	0.901;0.994;0.999;0.999	P;P;D;D	0.72338	0.484;0.76;0.977;0.977	T	0.55016	-0.8206	10	0.72032	D	0.01	.	16.4822	0.84160	0.0:0.0:1.0:0.0	.	199;613;613;640	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	Y	640;640;613;613;613;613;613;199	ENSP00000377500:D640Y;ENSP00000405405:D613Y;ENSP00000405292:D613Y;ENSP00000418296:D613Y;ENSP00000377502:D613Y;ENSP00000418319:D613Y;ENSP00000420303:D199Y	ENSP00000352764:D640Y	D	+	1	0	PHLDB2	113120726	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.422000	0.73357	2.684000	0.91462	0.561000	0.74099	GAT	-	NULL		0.373	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	G	NM_145753	-		111638036	1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111638036	G	T	111638036	3	4	229	1	0	0	0	0	1	0	0	0	11854	1290	45	3	1932	3	PHLDB2	3	111638036	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	62582828	111638036	86384394	38	18426											
GOLGB1	2804	genome.wustl.edu	37	chr3	121416305	121416305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagattcatctttcaagttgGctaattcttcttccaatcta	4	9	6	1	rs369555871		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:121416305G>T	ENST00000340645.5	-	13	3175	c.3050C>A	c.(3049-3051)gCc>gAc	p.A1017D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A1022D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1017					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTCAAGTTGGCTAATTCTTC	0.383																																																	0								ENSG00000173230						72	75	74					3																	121416305		2203	4300	6503	GOLGB1	SO:0001583	missense	0			-	HGNC	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3050C>A	3.37:g.121416305G>T	ENSP00000341848:p.Ala1017Asp	Somatic	0	47	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP							superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.A1017D	ENST00000340645.5	37	c.3050	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.508483|2.508483	0.44660|0.44660	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.24350|.	2.45;2.45;1.86|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.094208|.	0.47093|.	D|.	0.000258|.	T|T	0.71542|0.71542	0.3352|0.3352	L|L	0.57536|0.57536	1.79|1.79	0.45676|0.45676	D|D	0.998594|0.998594	D;D;D;D;D|.	0.89917|.	0.996;1.0;1.0;1.0;0.981|.	D;D;D;D;P|.	0.91635|.	0.967;0.995;0.999;0.995;0.872|.	T|T	0.67764|0.67764	-0.5586|-0.5586	10|5	0.13108|.	T|.	0.6|.	.|.	17.004|17.004	0.86388|0.86388	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	942;981;1022;1022;1017|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|T	1017;1022;981;829|888	ENSP00000341848:A1017D;ENSP00000377275:A1022D;ENSP00000418231:A981D|.	ENSP00000341848:A1017D|.	A|P	-|-	2|1	0|0	GOLGB1|GOLGB1	122898995|122898995	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.699000|0.699000	0.40488|0.40488	0.650000|0.650000	0.24858|0.24858	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	NULL		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	G	NM_004487	-		121416305	-1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121416305	G	T	121416305	3	4	229	1	0	0	0	0	1	0	0	0	6567	1203	42	3	6769	3	GOLGB1	3	121416305	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	9778269	121416305	76606125	39	18427											
PARP14	54625	genome.wustl.edu	37	chr3	122422740	122422740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgggcacagtgctcaAaaccagcagctggaatctgg	12	11	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:122422740A>C	ENST00000474629.2	+	7	3499	c.3233A>C	c.(3232-3234)aAa>aCa	p.K1078T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1078	Macro 2. {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)		ACAGTGCTCAAAACCAGCAGC	0.527																																																	0								ENSG00000173193						137	142	141					3																	122422740		2069	4215	6284	PARP14	SO:0001583	missense	0			-	HGNC	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.3233A>C	3.37:g.122422740A>C	ENSP00000418194:p.Lys1078Thr	Somatic	0	68	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP							pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K1078T	ENST00000474629.2	37	c.3233	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	A	1.143	-0.648893	0.03506	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.21031	2.03	5.71	-1.59	0.08453	Appr-1-p processing (3);	0.909246	0.09418	N	0.804854	T	0.05502	0.0145	N	0.02011	-0.69	0.09310	N	1	P;B	0.36110	0.537;0.049	B;B	0.36989	0.238;0.034	T	0.23476	-1.0187	10	0.11182	T	0.66	.	1.0628	0.01604	0.2683:0.3641:0.1572:0.2105	.	1078;1078	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	1078;997;74	ENSP00000418194:K1078T	ENSP00000381224:K74T	K	+	2	0	PARP14	123905430	0.000000	0.05858	0.332000	0.25469	0.017000	0.09413	-2.497000	0.00969	0.099000	0.17552	-0.254000	0.11334	AAA	-	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom		0.527	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	protein_coding	OTTHUMT00000356173.2	A	NM_017554	-		122422740	1	no_errors	ENST00000474629	ensembl	human	known	74_37	missense	SNP	0.007	C	C	122422740	A	C	122422740	3	2	229	1	0	0	0	0	1	0	0	0	11460	14	1	5	3259	5	PARP14	3	122422740	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	1006435	122422740	75599690	40	18428											
PARP14	54625	genome.wustl.edu	37	chr3	122446774	122446774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttccatgggacagatgCcggctccgtgccacacgtca	10	15	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:122446774C>T	ENST00000474629.2	+	16	5323	c.5057C>T	c.(5056-5058)gCc>gTc	p.A1686V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1686	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		GGGACAGATGCCGGCTCCGTG	0.478																																																	0								ENSG00000173193						71	71	71					3																	122446774		1984	4164	6148	PARP14	SO:0001583	missense	0			-	HGNC	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.5057C>T	3.37:g.122446774C>T	ENSP00000418194:p.Ala1686Val	Somatic	0	39	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP							pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A1686V	ENST00000474629.2	37	c.5057	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552975	0.13374	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.12569	2.67	5.63	-2.56	0.06268	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.627986	0.15179	N	0.276220	T	0.11707	0.0285	M	0.63843	1.955	0.09310	N	1	B	0.29301	0.241	B	0.26969	0.075	T	0.24048	-1.0171	10	0.27082	T	0.32	.	8.3625	0.32367	0.0992:0.4214:0.0:0.4794	.	1686	Q460N5	PAR14_HUMAN	V	1686;1605;682	ENSP00000418194:A1686V	ENSP00000381224:A682V	A	+	2	0	PARP14	123929464	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	-3.319000	0.00514	-0.416000	0.07473	-0.150000	0.13652	GCC	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.478	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	protein_coding	OTTHUMT00000356173.2	C	NM_017554	-		122446774	1	no_errors	ENST00000474629	ensembl	human	known	74_37	missense	SNP	0.000	T	T	122446774	C	T	122446774	3	4	229	1	0	0	0	0	1	0	0	0	11460	739	26	2	5119	2	PARP14	3	122446774	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	24034	122446774	75575656	41	18429											
UMPS	7372	genome.wustl.edu	37	chr3	124457073	124457073	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatataggaaacacagtgaaAaagcagtatgaaggtaagtg	12	3	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:124457073A>G	ENST00000232607.2	+	3	1075	c.969A>G	c.(967-969)aaA>aaG	p.K323K	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Silent_p.K145K|UMPS_ENST00000536109.1_Silent_p.K231K|UMPS_ENST00000413078.2_Silent_p.K145K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	323	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ACACAGTGAAAAAGCAGTATG	0.368																																																	0								ENSG00000114491						44	45	45					3																	124457073		2138	4277	6415	UMPS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.969A>G	3.37:g.124457073A>G		Somatic	0	12	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP							pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom	p.K323	ENST00000232607.2	37	c.969	CCDS3029.1	3																																																																																			-	pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase		0.368	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	protein_coding	OTTHUMT00000355271.1	A	NM_000373	-		124457073	1	no_errors	ENST00000232607	ensembl	human	known	74_37	silent	SNP	1.000	G	G	124457073	A	G	124457073	2	3	229	1	0	0	0	0	0	0	0	1	16988	11	1	5		5	UMPS	3	124457073	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	2010299	124457073	73565357	42	18430											
PLXNA1	5361	genome.wustl.edu	37	chr3	126708266	126708266	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccgccggcgagcactTcttcacgtccaagatcgtgc	11	14	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:126708266T>A	ENST00000393409.2	+	1	830	c.830T>A	c.(829-831)tTc>tAc	p.F277Y	PLXNA1_ENST00000251772.4_Missense_Mutation_p.F254Y	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	277	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGCGAGCACTTCTTCACGTCC	0.577																																																	0								ENSG00000114554						116	114	114					3																	126708266		2203	4300	6503	PLXNA1	SO:0001583	missense	0			-	HGNC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.830T>A	3.37:g.126708266T>A	ENSP00000377061:p.Phe277Tyr	Somatic	0	29	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33		Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.F277Y	ENST00000393409.2	37	c.830	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657361	0.67586	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10860	2.83;2.83	4.25	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.83692	2.655	0.46564	D	0.999106	D	0.76494	0.999	D	0.81914	0.995	T	0.15378	-1.0439	10	0.44086	T	0.13	.	13.5258	0.61594	0.0:0.0:0.0:1.0	.	277	Q9UIW2	PLXA1_HUMAN	Y	277;254	ENSP00000377061:F277Y;ENSP00000251772:F254Y	ENSP00000251772:F254Y	F	+	2	0	PLXNA1	128190956	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.890000	0.69774	1.793000	0.52555	0.402000	0.26972	TTC	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.577	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	protein_coding	OTTHUMT00000356451.1	T	NM_032242	-		126708266	1	no_errors	ENST00000393409	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126708266	T	A	126708266	3	1	229	1	0	0	0	0	1	0	0	0	12121	1783	62	5	832	5	PLXNA1	3	126708266	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	2251193	126708266	71314164	43	18431											
CCDC48	79825	genome.wustl.edu	37	chr3	128753020	128753020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtgtgatgaccagAcggcggagaagctcatgact	15	9	1	5			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:128753020A>G	ENST00000480450.1	+	5	1297	c.1297A>G	c.(1297-1299)Acg>Gcg	p.T433A	EFCC1_ENST00000436022.2_5'UTR			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	433							calcium ion binding (GO:0005509)										TGATGACCAGACGGCGGAGAA	0.622																																																	0								ENSG00000114654						83	80	81					3																	128753020		2203	4300	6503	EFCC1	SO:0001583	missense	0			-	HGNC	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1297A>G	3.37:g.128753020A>G	ENSP00000420075:p.Thr433Ala	Somatic	0	43	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	A8MYE2	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.T433A	ENST00000480450.1	37	c.1297	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	A	8.940	0.965677	0.18583	.	.	ENSG00000114654	ENST00000480450	T	0.45668	0.89	4.47	2.04	0.26737	.	.	.	.	.	T	0.24774	0.0601	L	0.38531	1.155	0.80722	D	1	B	0.20671	0.047	B	0.11329	0.006	T	0.06826	-1.0805	9	0.09338	T	0.73	.	4.9737	0.14129	0.621:0.2053:0.0:0.1738	.	433	Q9HA90	CCD48_HUMAN	A	433	ENSP00000420075:T433A	ENSP00000420075:T433A	T	+	1	0	CCDC48	130235710	0.961000	0.32948	0.115000	0.21578	0.945000	0.59286	2.032000	0.41127	0.202000	0.20498	0.260000	0.18958	ACG	-	NULL		0.622	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EFCC1	protein_coding	OTTHUMT00000352832.1	A	NM_024768	-		128753020	1	no_errors	ENST00000480450	ensembl	human	novel	74_37	missense	SNP	0.945	G	G	128753020	A	G	128753020	3	3	229	1	0	0	0	0	1	0	0	0	2821	275	10	5	1315	5	CCDC48	3	128753020	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	2044754	128753020	69269410	44	18432											
ATR	545	genome.wustl.edu	37	chr3	142278275	142278275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttatgttgacagtccttgAaagtacggctgcagtaagta	10	6	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:142278275A>G	ENST00000350721.4	-	7	1671	c.1550T>C	c.(1549-1551)tTc>tCc	p.F517S	ATR_ENST00000383101.3_Missense_Mutation_p.F453S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	517					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGTCCTTGAAAGTACGGCT	0.313								Other conserved DNA damage response genes																																									0								ENSG00000175054						67	64	65					3																	142278275		2203	4300	6503	ATR	SO:0001583	missense	0			-	HGNC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1550T>C	3.37:g.142278275A>G	ENSP00000343741:p.Phe517Ser	Somatic	0	22	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.F517S	ENST00000350721.4	37	c.1550	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	A	3.137	-0.177147	0.06380	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.03094	4.05;4.05	5.34	-1.29	0.09288	Armadillo-type fold (1);	0.792860	0.12218	N	0.488648	T	0.02083	0.0065	N	0.19112	0.55	0.22888	N	0.998601	B	0.02656	0.0	B	0.01281	0.0	T	0.45101	-0.9284	10	0.44086	T	0.13	-2.5044	0.9766	0.01427	0.4369:0.1541:0.26:0.1489	.	517	Q13535	ATR_HUMAN	S	517;453;134	ENSP00000343741:F517S;ENSP00000372581:F453S	ENSP00000343741:F517S	F	-	2	0	ATR	143760965	0.999000	0.42202	0.851000	0.33527	0.031000	0.12232	0.477000	0.22196	0.127000	0.18452	-0.250000	0.11733	TTC	-	superfamily_ARM-type_fold		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	A	NM_001184	-		142278275	-1	no_errors	ENST00000350721	ensembl	human	known	74_37	missense	SNP	0.686	G	G	142278275	A	G	142278275	3	3	229	1	0	0	0	0	1	0	0	0	1204	246	9	5	6548	5	ATR	3	142278275	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	13525255	142278275	55744155	45	18433											
PRKCI	5584	genome.wustl.edu	37	chr3	170002345	170002345	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgtattactggactcTgaaggccacattaaactcac	7	10	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:170002345T>C	ENST00000295797.4	+	12	1469	c.1164T>C	c.(1162-1164)tcT>tcC	p.S388S		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TACTGGACTCTGAAGGCCACA	0.343																																																	0								ENSG00000163558						60	59	59					3																	170002345		2203	4297	6500	PRKCI	SO:0001819	synonymous_variant	0			-	HGNC		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1164T>C	3.37:g.170002345T>C		Somatic	0	53	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	D3DNQ4|Q8WW06	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.S388	ENST00000295797.4	37	c.1164	CCDS3212.2	3																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom		0.343	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	protein_coding	OTTHUMT00000316866.3	T	NM_002740	-		170002345	1	no_errors	ENST00000295797	ensembl	human	known	74_37	silent	SNP	0.688	C	C	170002345	T	C	170002345	2	2	229	1	0	0	0	0	0	0	0	1	12519	1567	55	5		5	PRKCI	3	170002345	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	27724070	170002345	28020085	46	18434											
CHRD	8646	genome.wustl.edu	37	chr3	184101126	184101126	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagtgtcctttgtggggctGatgccctgatcccagtccag	12	11	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr3:184101126G>C	ENST00000204604.1	+	11	1486	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.D44H|CHRD_ENST00000450923.1_Missense_Mutation_p.D414H|CHRD_ENST00000348986.3_Missense_Mutation_p.D414H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	414	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGGGGCTGATGCCCTGAT	0.607																																																	0								ENSG00000090539						85	78	80					3																	184101126		2203	4300	6503	CHRD	SO:0001583	missense	0			-	HGNC	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1240G>C	3.37:g.184101126G>C	ENSP00000204604:p.Asp414His	Somatic	0	85	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	47	17.54	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP							pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.D414H	ENST00000204604.1	37	c.1240	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928831	0.73327	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.46063	0.88;0.88;2.38;0.88	4.65	4.65	0.58169	CHRD (3);	0.057280	0.64402	D	0.000002	T	0.63117	0.2484	M	0.65975	2.015	0.58432	D	0.999992	D;D;D;D	0.89917	0.98;1.0;0.999;1.0	D;D;D;D	0.81914	0.93;0.983;0.984;0.995	T	0.67428	-0.5673	10	0.72032	D	0.01	-11.9283	16.5167	0.84302	0.0:0.0:1.0:0.0	.	44;414;414;414	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	H	414;414;414;44;127	ENSP00000204604:D414H;ENSP00000408972:D414H;ENSP00000334036:D414H;ENSP00000442948:D44H	ENSP00000204604:D414H	D	+	1	0	CHRD	185583820	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	5.200000	0.65158	2.306000	0.77630	0.462000	0.41574	GAT	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	protein_coding	OTTHUMT00000280432.1	G	NM_003741	-		184101126	1	no_errors	ENST00000204604	ensembl	human	known	74_37	missense	SNP	0.998	C	C	184101126	G	C	184101126	3	2	229	1	0	0	0	0	1	0	0	0	3374	1290	45	4	1282	4	CHRD	3	184101126	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	14098781	184101126	13921304	47	18435											
CTBP1	1487	genome.wustl.edu	37	chr4	1209885	1209885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgcagggtgctgacaCgctgcagccccagcgcccgc	14	17	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr4:1209885C>T	ENST00000290921.6	-	5	837	c.656G>A	c.(655-657)cGt>cAt	p.R219H	CTBP1_ENST00000382952.3_Missense_Mutation_p.R208H	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	219					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGTGCTGACACGCTGCAGCCC	0.647																																																	0								ENSG00000159692						101	83	89					4																	1209885		2202	4299	6501	CTBP1	SO:0001583	missense	0			-	HGNC	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.656G>A	4.37:g.1209885C>T	ENSP00000290921:p.Arg219His	Somatic	0	37	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	18	47.06	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP							pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.R219H	ENST00000290921.6	37	c.656	CCDS3348.1	4	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476732	0.63737	.	.	ENSG00000159692	ENST00000382952;ENST00000290921	T;T	0.81247	-1.47;-1.47	4.62	3.76	0.43208	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.109914	0.56097	D	0.000035	D	0.86628	0.5978	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87110	0.2184	10	0.66056	D	0.02	-15.0728	13.929	0.63981	0.1534:0.8466:0.0:0.0	.	219;208	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	H	208;219	ENSP00000372411:R208H;ENSP00000290921:R219H	ENSP00000290921:R219H	R	-	2	0	CTBP1	1199885	1.000000	0.71417	0.795000	0.32087	0.009000	0.06853	7.133000	0.77259	0.901000	0.36495	0.561000	0.74099	CGT	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd		0.647	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	protein_coding	OTTHUMT00000202938.1	C	NM_001328	-		1209885	-1	no_errors	ENST00000290921	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1209885	C	T	1209885	3	4	229	1	0	0	0	0	1	0	0	0	3999	536	19	1	686	1	CTBP1	4	1209885	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		1209885	189944391	48	18436											
KDR	3791	genome.wustl.edu	37	chr4	55991451	55991451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacggccagcagcacctTgctctgcatcctgcacctcg	11	17	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr4:55991451T>C	ENST00000263923.4	-	1	305	c.10A>G	c.(10-12)Aag>Gag	p.K4E		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	4					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)	AGCAGCACCTTGCTCTGCATC	0.662			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0								ENSG00000128052						23	23	23					4																	55991451		2203	4300	6503	KDR	SO:0001583	missense	0			-	HGNC	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.10A>G	4.37:g.55991451T>C	ENSP00000263923:p.Lys4Glu	Somatic	0	95	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	57	18.31	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.K4E	ENST00000263923.4	37	c.10	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026064	0.35701	.	.	ENSG00000128052	ENST00000263923	T	0.75589	-0.95	4.56	0.725	0.18242	.	0.866399	0.10400	N	0.679328	T	0.58177	0.2104	L	0.43152	1.355	0.23649	N	0.997205	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.37709	-0.9694	10	0.09590	T	0.72	.	3.7964	0.08741	0.0:0.1954:0.1874:0.6171	.	4;4	P35968-2;P35968	.;VGFR2_HUMAN	E	4	ENSP00000263923:K4E	ENSP00000263923:K4E	K	-	1	0	KDR	55686208	0.995000	0.38212	0.932000	0.37286	0.393000	0.30537	0.763000	0.26517	0.140000	0.18849	0.459000	0.35465	AAG	-	NULL		0.662	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	T		-		55991451	-1	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	SNP	0.948	C	C	55991451	T	C	55991451	3	2	229	1	0	0	0	0	1	0	0	0	8141	1821	63	5	4180	5	KDR	4	55991451	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	54781566	55991451	135162825	49	18437											
SEC24D	9871	genome.wustl.edu	37	chr4	119666191	119666191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaagaatggaagatgaAcagcttcccaggacagtctg	12	8	1	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr4:119666191A>G	ENST00000280551.6	-	14	1970	c.1732T>C	c.(1732-1734)Ttc>Ctc	p.F578L	SEC24D_ENST00000419654.2_Missense_Mutation_p.F134L|SEC24D_ENST00000511481.1_Missense_Mutation_p.F209L|SEC24D_ENST00000379735.5_Missense_Mutation_p.F579L|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.F134L			O94855	SC24D_HUMAN	SEC24 family member D	578					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGGAAGATGAACAGCTTCCCA	0.388																																																	0								ENSG00000150961						117	118	118					4																	119666191		2203	4300	6503	SEC24D	SO:0001583	missense	0			-	HGNC	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1732T>C	4.37:g.119666191A>G	ENSP00000280551:p.Phe578Leu	Somatic	0	33	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	Q8IYI7	Missense_Mutation	SNP							pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.F579L	ENST00000280551.6	37	c.1735	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803603	0.70682	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.59	5.59	0.84812	Sec23/Sec24, trunk domain (1);	0.086882	0.85682	D	0.000000	T	0.35998	0.0951	L	0.41356	1.27	0.58432	D	0.999997	B;B	0.26120	0.002;0.142	B;B	0.29942	0.006;0.109	T	0.13980	-1.0489	10	0.12103	T	0.63	-9.5956	15.7516	0.77989	1.0:0.0:0.0:0.0	.	579;578	O94855-2;O94855	.;SC24D_HUMAN	L	578;579;134;209;134	ENSP00000280551:F578L;ENSP00000369059:F579L;ENSP00000409775:F134L;ENSP00000425491:F209L;ENSP00000388324:F134L	ENSP00000280551:F578L	F	-	1	0	SEC24D	119885639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.274000	0.72587	2.112000	0.64535	0.533000	0.62120	TTC	-	pfam_Sec23/24_trunk_dom		0.388	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	protein_coding	OTTHUMT00000256514.4	A		-		119666191	-1	no_errors	ENST00000379735	ensembl	human	known	74_37	missense	SNP	1.000	G	G	119666191	A	G	119666191	3	3	229	1	0	0	0	0	1	0	0	0	14005	43	2	5	1406	5	SEC24D	4	119666191	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	63674740	119666191	71488085	50	18438											
TRIO	7204	genome.wustl.edu	37	chr5	14481717	14481717	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgaacgtggggcggctgcAaggattcgacgtaatgcggc	17	8	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:14481717A>T	ENST00000344204.4	+	45	6479	c.6455A>T	c.(6454-6456)cAa>cTa	p.Q2152L	TRIO_ENST00000537187.1_Missense_Mutation_p.Q2152L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2152					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)					GGGCGGCTGCAAGGATTCGAC	0.488																																																	0								ENSG00000038382						148	146	147					5																	14481717		2203	4300	6503	TRIO	SO:0001583	missense	0			-	HGNC	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.6455A>T	5.37:g.14481717A>T	ENSP00000339299:p.Gln2152Leu	Somatic	0	74	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	62	24.39	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Q2152L	ENST00000344204.4	37	c.6455	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	A	29.3	4.993098	0.93167	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.66638	-0.22;-0.22	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.84579	0.5503	M	0.91510	3.215	0.80722	D	1	D;D	0.63880	0.993;0.967	D;D	0.65874	0.939;0.932	D	0.88235	0.2906	10	0.72032	D	0.01	.	15.5612	0.76249	1.0:0.0:0.0:0.0	.	2152;2152	O75962-5;O75962	.;TRIO_HUMAN	L	2152;2152;1839;232	ENSP00000339299:Q2152L;ENSP00000446348:Q2152L	ENSP00000339299:Q2152L	Q	+	2	0	TRIO	14534717	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.297000	0.96120	2.072000	0.62099	0.460000	0.39030	CAA	-	NULL		0.488	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	A	NM_007118	-		14481717	1	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	SNP	1.000	T	T	14481717	A	T	14481717	3	4	229	1	0	0	0	0	1	0	0	0	16559	130	5	5	6633	5	TRIO	5	14481717	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09		14481717	166433543	51	18439											
WDR36	134430	genome.wustl.edu	37	chr5	110439579	110439579	+	Missense_Mutation	SNP	A	A	C													aacattaatgaagtttcgtcAagactggggacccattactt							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:110439579A>C	ENST00000513710.2	+	7	864	c.860A>C	c.(859-861)cAa>cCa	p.Q287P	WDR36_ENST00000506538.2_Missense_Mutation_p.Q287P|WDR36_ENST00000505303.1_Missense_Mutation_p.Q231P			Q8NI36	WDR36_HUMAN	WD repeat domain 36	287					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AAGTTTCGTCAAGACTGGGGA	0.328																																																	0								ENSG00000134987						63	66	65					5																	110439579		2201	4298	6499	WDR36	SO:0001583	missense	0			-	HGNC	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.860A>C	5.37:g.110439579A>C	ENSP00000424628:p.Gln287Pro	Somatic	0	58	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP							pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q287P	ENST00000513710.2	37	c.860	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515832	0.85495	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.80909	-1.43;-1.43;3.35	5.21	5.21	0.72293	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	0.88815	0.6539	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90164	0.4230	10	0.87932	D	0	-13.1049	15.3929	0.74760	1.0:0.0:0.0:0.0	.	287	Q8NI36	WDR36_HUMAN	P	287;287;231	ENSP00000423067:Q287P;ENSP00000424628:Q287P;ENSP00000422158:Q231P	ENSP00000422158:Q231P	Q	+	2	0	WDR36	110467478	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.026000	0.93700	2.095000	0.63458	0.260000	0.18958	CAA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.328	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	protein_coding	OTTHUMT00000373504.3	A	NM_139281	-		110439579	1	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	SNP	1.000	C	C	110439579	A	C	110439579	3	2	229	1	0	0	0	0	1	0	0	0	17297	130	5	5	886	5	WDR36	5	110439579	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	95957862	110439579	70475681	52	18440	491	2									
WDR36	134430	genome.wustl.edu	37	chr5	110439580	110439580	+	Missense_Mutation	SNP	A	A	T													acattaatgaagtttcgtcaAgactggggacccattacttc							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:110439580A>T	ENST00000513710.2	+	7	865	c.861A>T	c.(859-861)caA>caT	p.Q287H	WDR36_ENST00000506538.2_Missense_Mutation_p.Q287H|WDR36_ENST00000505303.1_Missense_Mutation_p.Q231H			Q8NI36	WDR36_HUMAN	WD repeat domain 36	287					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGTTTCGTCAAGACTGGGGAC	0.333																																																	0								ENSG00000134987						63	66	65					5																	110439580		2201	4298	6499	WDR36	SO:0001583	missense	0			-	HGNC	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.861A>T	5.37:g.110439580A>T	ENSP00000424628:p.Gln287His	Somatic	0	55	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP							pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q287H	ENST00000513710.2	37	c.861	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629625	0.67015	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.81078	-1.45;-1.45;3.35	5.21	2.83	0.33086	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	0.85084	0.5616	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83624	0.0141	10	0.87932	D	0	-13.1049	8.9224	0.35619	0.774:0.0:0.226:0.0	.	287	Q8NI36	WDR36_HUMAN	H	287;287;231	ENSP00000423067:Q287H;ENSP00000424628:Q287H;ENSP00000422158:Q231H	ENSP00000422158:Q231H	Q	+	3	2	WDR36	110467479	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.558000	0.36309	0.400000	0.25396	0.260000	0.18958	CAA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.333	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	protein_coding	OTTHUMT00000373504.3	A	NM_139281	-		110439580	1	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	SNP	1.000	T	T	110439580	A	T	110439580	3	4	229	1	0	0	0	0	1	0	0	0	17297	69	3	5	887	5	WDR36	5	110439580	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	1	110439580	70475680	53	18441	491	2									
PCDHB14	56122	genome.wustl.edu	37	chr5	140604757	140604757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaacgacaactcgcccttCgtgctgtacccgctgcagaa	9	16	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:140604757C>T	ENST00000239449.4	+	1	1680	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	PCDHB14_ENST00000515856.2_Silent_p.F407F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	560	Cadherin 5. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.721																																					Ovarian(141;50 1831 27899 33809 37648)												0								ENSG00000120327																																			PCDHB14	SO:0001819	synonymous_variant	0			-	HGNC	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1680C>T	5.37:g.140604757C>T		Somatic	0	150	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	139	26.46	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F560	ENST00000239449.4	37	c.1680	CCDS4256.1	5																																																																																			-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.721	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	protein_coding	OTTHUMT00000251814.2	C	NM_018934	-		140604757	1	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	SNP	0.766	T	T	140604757	C	T	140604757	2	4	229	1	0	0	0	0	0	0	0	1	11541	883	31	1		1	PCDHB14	5	140604757	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	30165177	140604757	40310503	54	18442											
HDAC3	8841	genome.wustl.edu	37	chr5	141016128	141016128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcacgatcatcttcttaTagagaccgtaatgcaggacc	7	11	4	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:141016128T>C	ENST00000305264.3	-	2	204	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000521367.1_5'Flank|RELL2_ENST00000444782.1_5'Flank|RELL2_ENST00000518856.1_5'Flank|RELL2_ENST00000297164.3_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	42	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)	CATCTTCTTATAGAGACCGTA	0.612																																																	0								ENSG00000171720						57	61	60					5																	141016128		2203	4300	6503	HDAC3	SO:0001583	missense	0			-	HGNC	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.125A>G	5.37:g.141016128T>C	ENSP00000302967:p.Tyr42Cys	Somatic	0	184	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	100	41.52	D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP							pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.Y42C	ENST00000305264.3	37	c.125	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	T	28.5	4.924403	0.92319	.	.	ENSG00000171720	ENST00000305264;ENST00000523353;ENST00000523088	T;T;T	0.74002	-0.8;1.52;1.52	5.26	5.26	0.73747	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.77616	2.38	0.80722	D	1	P;D	0.62365	0.953;0.991	B;P	0.61658	0.129;0.892	D	0.86870	0.2035	10	0.87932	D	0	-17.1518	14.9988	0.71455	0.0:0.0:0.0:1.0	.	42;42	E7ESJ6;O15379	.;HDAC3_HUMAN	C	42	ENSP00000302967:Y42C;ENSP00000430667:Y42C;ENSP00000429099:Y42C	ENSP00000302967:Y42C	Y	-	2	0	HDAC3	140996312	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.756000	0.85195	2.208000	0.71279	0.533000	0.62120	TAT	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1		0.612	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	protein_coding	OTTHUMT00000251824.2	T	NM_003883	-		141016128	-1	no_errors	ENST00000305264	ensembl	human	known	74_37	missense	SNP	1.000	C	C	141016128	T	C	141016128	3	2	229	1	0	0	0	0	1	0	0	0	7010	1406	49	5	1217	5	HDAC3	5	141016128	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	411371	141016128	39899132	55	18443											
ATP10B	23120	genome.wustl.edu	37	chr5	159992464	159992464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatttctgcagctcctcatAtggtcagtgaactctgggat	10	9	4	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:159992464A>G	ENST00000327245.5	-	26	5228	c.4382T>C	c.(4381-4383)aTa>aCa	p.I1461T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1461					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)			AGCTCCTCATATGGTCAGTGA	0.502																																																	0								ENSG00000118322						122	116	118					5																	159992464		2019	4189	6208	ATP10B	SO:0001583	missense	0			-	HGNC	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.4382T>C	5.37:g.159992464A>G	ENSP00000313600:p.Ile1461Thr	Somatic	0	51	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q9H725	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I1461T	ENST00000327245.5	37	c.4382	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320515	0.60634	.	.	ENSG00000118322	ENST00000327245	T	0.50001	0.76	5.46	5.46	0.80206	.	0.088661	0.48286	D	0.000197	T	0.54367	0.1854	L	0.29908	0.895	0.28772	N	0.900307	D	0.71674	0.998	D	0.76071	0.987	T	0.51490	-0.8699	9	.	.	.	.	11.9114	0.52741	1.0:0.0:0.0:0.0	.	1461	O94823	AT10B_HUMAN	T	1461	ENSP00000313600:I1461T	.	I	-	2	0	ATP10B	159925042	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.785000	0.62418	2.068000	0.61886	0.460000	0.39030	ATA	-	NULL		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	A	NM_025153	-		159992464	-1	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	SNP	1.000	G	G	159992464	A	G	159992464	3	3	229	1	0	0	0	0	1	0	0	0	1117	449	16	5	7	5	ATP10B	5	159992464	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	18976336	159992464	20922796	56	18444											
ODZ2	57451	genome.wustl.edu	37	chr5	167630814	167630814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctggtccctagacaaacAccacatcctcaatgttaaaa	6	12	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:167630814A>G	ENST00000518659.1	+	18	3590	c.3551A>G	c.(3550-3552)cAc>cGc	p.H1184R	TENM2_ENST00000520394.1_Missense_Mutation_p.H952R|TENM2_ENST00000519204.1_Missense_Mutation_p.H1063R|TENM2_ENST00000403607.2_Missense_Mutation_p.H1008R|TENM2_ENST00000545108.1_Missense_Mutation_p.H1184R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1184					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)										CTAGACAAACACCACATCCTC	0.502																																																	0								ENSG00000145934						177	170	172					5																	167630814		1932	4134	6066	TENM2	SO:0001583	missense	0			-	HGNC	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.3551A>G	5.37:g.167630814A>G	ENSP00000429430:p.His1184Arg	Somatic	0	58	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	Q9ULU2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.H1184R	ENST00000518659.1	37	c.3551		5	.	.	.	.	.	.	.	.	.	.	a	23.5	4.419880	0.83559	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93426	-2.75;-2.71;-2.89;-3.14;-3.22	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	M	0.91090	3.175	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.984	D;D;D	0.91635	0.999;0.998;0.964	D	0.98258	1.0497	10	0.87932	D	0	.	15.1221	0.72453	1.0:0.0:0.0:0.0	.	1184;1184;952	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	R	1184;1184;1063;952;1008	ENSP00000429430:H1184R;ENSP00000438635:H1184R;ENSP00000428964:H1063R;ENSP00000427874:H952R;ENSP00000384905:H1008R	ENSP00000384905:H1008R	H	+	2	0	ODZ2	167563392	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	9.284000	0.95882	2.022000	0.59522	0.524000	0.50904	CAC	-	superfamily_ConA-like_lec_gl_sf		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	A	NM_001122679	-		167630814	1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	1.000	G	G	167630814	A	G	167630814	3	3	229	1	0	0	0	0	1	0	0	0	10837	159	6	5	3594	5	ODZ2	5	167630814	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	7638350	167630814	13284446	57	18445											
RNF130	55819	genome.wustl.edu	37	chr5	179397430	179397431	+	Frame_Shift_Ins	INS	-	-	T													acaattcccagggccttcaaINStatattaagtttgcacatag							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr5:179397430_179397431insT	ENST00000261947.4	-	6	1322_1323	c.924_925insA	c.(922-927)atattgfs	p.L309fs	RNF130_ENST00000521389.1_Frame_Shift_Ins_p.L309fs|RNF130_ENST00000522208.2_Frame_Shift_Ins_p.L309fs	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGCCTTCAATATATTAAGTT	0.332																																					GBM(24;432 554 38471 39699 51728)												0								ENSG00000113269																																			RNF130	SO:0001589	frameshift_variant	0				HGNC	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.925dupA	5.37:g.179397431_179397431dupT	ENSP00000261947:p.Leu309fs	Somatic	0	52	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50		Frame_Shift_Ins	INS							pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L308fs	ENST00000261947.4	37	c.925_924		5																																																																																			-	NULL		0.332	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	RNF130	protein_coding	OTTHUMT00000374205.1	-	NM_018434			179397431	-1	no_errors	ENST00000521389	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	179397431	-	T	179397430	7	5	229	1	0	1	1	0	0	0	0	0	13446	98	4	0	350	0	RNF130	5	179397430	Frame_Shift_Ins	INS	-	TCGA-WP-A9GB-01A-11D-A37C-09	11766616	179397430	1517830	58	18446											
KIF13A	63971	genome.wustl.edu	37	chr6	17804729	17804729	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtcacctcgttttccgtAgagtctctttgcctgagaag	11	10	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:17804729A>T	ENST00000259711.6	-	20	2422	c.2317T>A	c.(2317-2319)Tac>Aac	p.Y773N	KIF13A_ENST00000378816.5_Missense_Mutation_p.Y773N|KIF13A_ENST00000378814.5_Missense_Mutation_p.Y773N|KIF13A_ENST00000378843.2_Missense_Mutation_p.Y773N|KIF13A_ENST00000378826.2_Missense_Mutation_p.Y773N	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	773					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CGTTTTCCGTAGAGTCTCTTT	0.393																																																	0								ENSG00000137177						63	60	61					6																	17804729		1926	4135	6061	KIF13A	SO:0001583	missense	0			-	HGNC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2317T>A	6.37:g.17804729A>T	ENSP00000259711:p.Tyr773Asn	Somatic	0	63	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	13	71.74	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y773N	ENST00000259711.6	37	c.2317	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	A	7.798	0.712990	0.15306	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.88	5.88	0.94601	.	0.741795	0.14008	N	0.347663	T	0.31451	0.0797	N	0.02960	-0.455	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.001;0.005;0.001	T	0.12863	-1.0531	10	0.27082	T	0.32	.	11.1442	0.48422	0.8298:0.0:0.0:0.1702	.	773;773;773;773	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	N	773	ENSP00000368091:Y773N;ENSP00000259711:Y773N;ENSP00000368103:Y773N;ENSP00000368120:Y773N;ENSP00000368093:Y773N	ENSP00000259711:Y773N	Y	-	1	0	KIF13A	17912708	0.661000	0.27430	0.370000	0.25965	0.582000	0.36321	2.938000	0.48987	2.253000	0.74438	0.454000	0.30748	TAC	-	pfam_KIF1B		0.393	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	protein_coding	OTTHUMT00000039954.4	A		-		17804729	-1	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	SNP	0.022	T	T	17804729	A	T	17804729	3	4	229	1	0	0	0	0	1	0	0	0	8276	420	15	5	3205	5	KIF13A	6	17804729	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09		17804729	153310338	59	18447											
LRRC16A	55604	genome.wustl.edu	37	chr6	25600575	25600575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggctcagagtcccatgaGcttaatgaaggaggagatga	14	6	1	6			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:25600575G>T	ENST00000329474.6	+	33	3521	c.3153G>T	c.(3151-3153)gaG>gaT	p.E1051D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1051	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTCCCATGAGCTTAATGAAG	0.413																																																	0								ENSG00000079691						76	74	75					6																	25600575		1856	4101	5957	LRRC16A	SO:0001583	missense	0			-	HGNC	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3153G>T	6.37:g.25600575G>T	ENSP00000331983:p.Glu1051Asp	Somatic	0	49	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1051D	ENST00000329474.6	37	c.3153	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	6.244	0.413169	0.11812	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.14391	2.51	5.2	2.3	0.28687	.	0.124141	0.52532	N	0.000061	T	0.02012	0.0063	N	0.17674	0.51	0.50039	D	0.999841	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37150	-0.9718	10	0.13470	T	0.59	.	4.2287	0.10592	0.0715:0.2519:0.4181:0.2585	.	1051;1051;1051	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	D	1051	ENSP00000331983:E1051D	ENSP00000331983:E1051D	E	+	3	2	LRRC16A	25708554	0.950000	0.32346	0.872000	0.34217	0.867000	0.49689	0.163000	0.16520	0.556000	0.29098	0.455000	0.32223	GAG	-	NULL		0.413	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	protein_coding	OTTHUMT00000040045.2	G	NM_017640	-		25600575	1	no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	SNP	0.263	T	T	25600575	G	T	25600575	3	4	229	1	0	0	0	0	1	0	0	0	8973	962	34	3	3283	3	LRRC16A	6	25600575	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	7795846	25600575	145514492	60	18448											
MDN1	23195	genome.wustl.edu	37	chr6	90402695	90402695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctatgtggagggcctGcagaagccgtgtgagcagat	14	10	1	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:90402695G>A	ENST00000369393.3	-	63	10169	c.10054C>T	c.(10054-10056)Cag>Tag	p.Q3352*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q3352*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3352					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGAGGGCCTGCAGAAGCCGT	0.612																																																	0								ENSG00000112159						66	56	59					6																	90402695		2203	4300	6503	MDN1	SO:0001587	stop_gained	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10054C>T	6.37:g.90402695G>A	ENSP00000358400:p.Gln3352*	Somatic	0	38	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	O15019|Q5T794	Nonsense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.Q3352*	ENST00000369393.3	37	c.10054	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	49	15.698905	0.99842	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.19	3.28	0.37604	.	0.269175	0.35436	N	0.003219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	10.7922	0.46440	0.0:0.1098:0.5826:0.3076	.	.	.	.	X	3352	.	ENSP00000358400:Q3352X	Q	-	1	0	MDN1	90459416	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	3.012000	0.49575	1.305000	0.44909	0.491000	0.48974	CAG	-	pirsf_Midasin		0.612	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	G		-		90402695	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	90402695	G	A	90402695	4	1	229	1	0	0	0	0	0	1	0	0	9417	1328	46	2	6896	2	MDN1	6	90402695	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	64802120	90402695	80712372	61	18449											
MDN1	23195	genome.wustl.edu	37	chr6	90448117	90448117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgaattaaatcttcacGgcttgtgctttgagggcacc	10	9	3	2	rs543829019		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:90448117G>A	ENST00000369393.3	-	33	4766	c.4651C>T	c.(4651-4653)Cgt>Tgt	p.R1551C	MDN1_ENST00000428876.1_Missense_Mutation_p.R1551C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1551					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAATCTTCACGGCTTGTGCTT	0.398													G|||	1	0.000199681	0	0	5008	,	,		18559	0.001		0	False		,,,				2504	0																0								ENSG00000112159						117	109	112					6																	90448117		2203	4300	6503	MDN1	SO:0001583	missense	0			-	HGNC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4651C>T	6.37:g.90448117G>A	ENSP00000358400:p.Arg1551Cys	Somatic	0	80	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	30	48.28	O15019|Q5T794	Missense_Mutation	SNP							pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R1551C	ENST00000369393.3	37	c.4651	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862309	0.71949	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.41758	0.99;0.99	5.69	5.69	0.88448	.	0.053545	0.85682	D	0.000000	T	0.50274	0.1606	M	0.82323	2.585	0.80722	D	1	D	0.64830	0.994	P	0.51657	0.676	T	0.57300	-0.7835	10	0.56958	D	0.05	.	15.4114	0.74923	0.0:0.0:0.8603:0.1397	.	1551	Q9NU22	MDN1_HUMAN	C	1551	ENSP00000358400:R1551C;ENSP00000413970:R1551C	ENSP00000358400:R1551C	R	-	1	0	MDN1	90504838	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	7.563000	0.82314	2.689000	0.91719	0.557000	0.71058	CGT	-	superfamily_P-loop_NTPase,pirsf_Midasin		0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	G		-		90448117	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90448117	G	A	90448117	3	1	229	1	0	0	0	0	1	0	0	0	9417	1116	39	1	12419	1	MDN1	6	90448117	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	45422	90448117	80666950	62	18450											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90576105	90576105	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttccaattattgctgtaccCtcttctgaacaagagatcat	6	10	3	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:90576105C>G	ENST00000551025.1	+	0	4533									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGCTGTACCCTCTTCTGAAC	0.308																																					Colon(187;1656 2025 17045 31481 39901)												0								ENSG00000118412						56	49	51					6																	90576105		1822	4083	5905	CASP8AP2			0			-	HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576105C>G		Somatic	0	28	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		RNA	SNP							-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.308	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		C	NM_001137667	-		90576105	1	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	SNP	0.716	G	G	90576105	C	G	90576105	1	3	229	0	1	0	0	0	0	0	0	0	2680	668	24	4		4	CASP8AP2	6	90576105	RNA	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	127988	90576105	80538962	63	18451											
KIAA0776	23376	genome.wustl.edu	37	chr6	96986658	96986658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtacagaactgttccGtgagctgatgcaccagaaag	11	9	0	5			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:96986658G>A	ENST00000369278.4	+	10	1196	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	377					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GAACTGTTCCGTGAGCTGATG	0.368																																																	0								ENSG00000014123						65	64	64					6																	96986658		2203	4299	6502	UFL1	SO:0001583	missense	0			-	HGNC	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1130G>A	6.37:g.96986658G>A	ENSP00000358283:p.Arg377His	Somatic	0	32	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP							pfam_E3_UFM1_ligase_1	p.R377H	ENST00000369278.4	37	c.1130	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409178	0.42715	.	.	ENSG00000014123	ENST00000369278	T	0.43294	0.95	5.51	1.78	0.24846	.	0.519059	0.24669	N	0.036567	T	0.07098	0.0180	N	0.08118	0	0.22171	N	0.999318	B	0.13594	0.008	B	0.06405	0.002	T	0.28235	-1.0050	10	0.46703	T	0.11	-3.0545	4.8722	0.13639	0.3308:0.1578:0.5113:0.0	.	377	O94874	UFL1_HUMAN	H	377	ENSP00000358283:R377H	ENSP00000358283:R377H	R	+	2	0	KIAA0776	97093379	0.239000	0.23836	0.997000	0.53966	0.865000	0.49528	0.314000	0.19432	0.303000	0.22785	-0.216000	0.12614	CGT	-	NULL		0.368	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	protein_coding	OTTHUMT00000041557.1	G	NM_015323	-		96986658	1	no_errors	ENST00000369278	ensembl	human	known	74_37	missense	SNP	0.995	A	A	96986658	G	A	96986658	3	1	229	1	0	0	0	0	1	0	0	0	8195	1145	40	1	1168	1	KIAA0776	6	96986658	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	6410553	96986658	74128409	64	18452											
FBXL4	26235	genome.wustl.edu	37	chr6	99365506	99365506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcgtataagatttgtgGggaaatttatctgcttaata	9	5	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:99365506G>T	ENST00000369244.2	-	5	1030	c.602C>A	c.(601-603)cCc>cAc	p.P201H	FBXL4_ENST00000229971.1_Missense_Mutation_p.P201H	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	201					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AAGATTTGTGGGGAAATTTAT	0.408																																																	0								ENSG00000112234						111	116	114					6																	99365506		2203	4300	6503	FBXL4	SO:0001583	missense	0			-	HGNC	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.602C>A	6.37:g.99365506G>T	ENSP00000358247:p.Pro201His	Somatic	0	40	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.P201H	ENST00000369244.2	37	c.602	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744543	0.89663	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.15487	2.42;2.42	5.62	5.62	0.85841	.	0.051561	0.85682	D	0.000000	T	0.30448	0.0765	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.03453	-1.1035	10	0.72032	D	0.01	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	201	Q9UKA2	FBXL4_HUMAN	H	201	ENSP00000358247:P201H;ENSP00000229971:P201H	ENSP00000229971:P201H	P	-	2	0	FBXL4	99472227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.444000	0.97578	2.647000	0.89833	0.467000	0.42956	CCC	-	NULL		0.408	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	protein_coding	OTTHUMT00000041587.2	G		-		99365506	-1	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	SNP	1.000	T	T	99365506	G	T	99365506	3	4	229	1	0	0	0	0	1	0	0	0	5723	1232	43	3	1287	3	FBXL4	6	99365506	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	2378848	99365506	71749561	65	18453											
SAMD3	154075	genome.wustl.edu	37	chr6	130530730	130530730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccccatgcctggctggaCtggaggactcttcatccctg	11	15	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:130530730C>T	ENST00000368134.2	-	7	901	c.293G>A	c.(292-294)aGt>aAt	p.S98N	SAMD3_ENST00000532763.1_Missense_Mutation_p.S96N|SAMD3_ENST00000324172.6_Missense_Mutation_p.S98N|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.S98N|SAMD3_ENST00000457563.2_Missense_Mutation_p.S122N|SAMD3_ENST00000439090.2_Missense_Mutation_p.S98N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	98										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CCTGGCTGGACTGGAGGACTC	0.473																																																	0								ENSG00000164483						110	102	105					6																	130530730		2203	4300	6503	SAMD3	SO:0001583	missense	0			-	HGNC	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.293G>A	6.37:g.130530730C>T	ENSP00000357116:p.Ser98Asn	Somatic	0	40	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S98N	ENST00000368134.2	37	c.293	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	C	3.002	-0.205746	0.06180	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.46063	0.89;0.88;0.89;0.89;0.9;0.9;0.9;0.89;0.89	5.63	1.67	0.24075	.	0.778107	0.12288	N	0.482206	T	0.10809	0.0264	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.17852	0.001;0.024;0.0;0.0	B;B;B;B	0.10450	0.002;0.005;0.002;0.001	T	0.20974	-1.0259	10	0.56958	D	0.05	.	3.2274	0.06736	0.1807:0.4859:0.0:0.3334	.	122;98;98;98	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	N	98;122;98;98;96;98;98;98;96	ENSP00000357116:S98N;ENSP00000402092:S122N;ENSP00000403565:S98N;ENSP00000391163:S98N;ENSP00000436088:S96N;ENSP00000324874:S98N;ENSP00000436115:S98N;ENSP00000435875:S98N;ENSP00000434139:S96N	ENSP00000324874:S98N	S	-	2	0	SAMD3	130572423	0.000000	0.05858	0.398000	0.26321	0.023000	0.10783	0.004000	0.13106	0.855000	0.35359	0.655000	0.94253	AGT	-	NULL		0.473	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	protein_coding	OTTHUMT00000042197.3	C	NM_152552	-		130530730	-1	no_errors	ENST00000368134	ensembl	human	known	74_37	missense	SNP	0.059	T	T	130530730	C	T	130530730	3	4	229	1	0	0	0	0	1	0	0	0	13828	565	20	2	1317	2	SAMD3	6	130530730	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	31165224	130530730	40584337	66	18454											
SYNE1	23345	genome.wustl.edu	37	chr6	152652933	152652933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattttctgcttttgatctTtcagatcttcaatagcatac	4	9	6	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr6:152652933T>C	ENST00000367255.5	-	78	13488	c.12887A>G	c.(12886-12888)aAa>aGa	p.K4296R	SYNE1_ENST00000423061.1_Missense_Mutation_p.K4225R|SYNE1_ENST00000448038.1_Missense_Mutation_p.K4225R|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4296R|SYNE1_ENST00000341594.5_Missense_Mutation_p.K4161R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4296					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)		CTTTTGATCTTTCAGATCTTC	0.393										HNSCC(10;0.0054)																																							0								ENSG00000131018						99	97	98					6																	152652933		2203	4300	6503	SYNE1	SO:0001583	missense	0			-	HGNC	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.12887A>G	6.37:g.152652933T>C	ENSP00000356224:p.Lys4296Arg	Somatic	0	46	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	34	33.33	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K4296R	ENST00000367255.5	37	c.12887	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512280	0.27036	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.66	4.5	0.54988	.	0.000000	0.64402	D	0.000008	T	0.14743	0.0356	L	0.55103	1.725	0.80722	D	1	P;P;P;P	0.42078	0.77;0.66;0.66;0.77	B;B;B;B	0.36959	0.237;0.119;0.119;0.237	T	0.04522	-1.0945	10	0.12430	T	0.62	.	11.4868	0.50358	0.0:0.0699:0.0:0.9301	.	4296;4296;4296;4225	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	4296;4225;4296;4225;4161	ENSP00000356224:K4296R;ENSP00000396024:K4225R;ENSP00000265368:K4296R;ENSP00000390975:K4225R;ENSP00000341887:K4161R	ENSP00000265368:K4296R	K	-	2	0	SYNE1	152694626	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	6.258000	0.72487	0.992000	0.38840	0.482000	0.46254	AAA	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	T	NM_182961	-		152652933	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	SNP	1.000	C	C	152652933	T	C	152652933	3	2	229	1	0	0	0	0	1	0	0	0	15452	1841	64	5	13855	5	SYNE1	6	152652933	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	22122203	152652933	18462134	67	18455											
TNRC18	84629	genome.wustl.edu	37	chr7	5347940	5347940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgaggactggtatagcgCgcgctgcgggcacgcgggga	19	10	0	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:5347940C>T	ENST00000430969.1	-	30	9052	c.8704G>A	c.(8704-8706)Gcg>Acg	p.A2902T	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2902T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2902	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGTATAGCGCGCGCTGCGGG	0.637																																																	0								ENSG00000182095						31	29	30					7																	5347940		2041	4169	6210	TNRC18	SO:0001583	missense	0			-	HGNC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8704G>A	7.37:g.5347940C>T	ENSP00000395538:p.Ala2902Thr	Somatic	0	59	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	40	25.93	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A2902T	ENST00000430969.1	37	c.8704	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	c	16.72	3.200560	0.58126	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	D;D	0.85629	-2.01;-2.01	4.65	4.65	0.58169	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.92004	0.7467	M	0.73962	2.25	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.93238	0.6623	9	0.87932	D	0	.	17.1047	0.86659	0.0:1.0:0.0:0.0	.	2902	O15417	TNC18_HUMAN	T	2902	ENSP00000382452:A2902T;ENSP00000395538:A2902T	ENSP00000382452:A2902T	A	-	1	0	TNRC18	5314466	1.000000	0.71417	0.996000	0.52242	0.368000	0.29767	7.265000	0.78442	2.100000	0.63781	0.555000	0.69702	GCG	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.637	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	protein_coding		C		-		5347940	-1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	SNP	1.000	T	T	5347940	C	T	5347940	3	4	229	1	0	0	0	0	1	0	0	0	16346	768	27	1	206	1	TNRC18	7	5347940	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		5347940	153790723	68	18456											
ISPD	729920	genome.wustl.edu	37	chr7	16317841	16317841	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataactacacaaatctcttgGgaaattctctctgaaattaa	4	8	3	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:16317841G>C	ENST00000407010.2	-	6	845	c.846C>G	c.(844-846)tcC>tcG	p.S282S	ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Silent_p.S232S	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	282					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAATCTCTTGGGAAATTCTCT	0.303										Multiple Myeloma(15;0.18)																																							0								ENSG00000214960						39	38	38					7																	16317841		1784	4057	5841	ISPD	SO:0001819	synonymous_variant	0			-	HGNC	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.846C>G	7.37:g.16317841G>C		Somatic	0	79	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	63	24.10	A8MU35|H9KVB2	Silent	SNP							pfam_IspD	p.S282	ENST00000407010.2	37	c.846		7																																																																																			-	NULL		0.303	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	protein_coding	OTTHUMT00000326252.4	G	NM_001101426	-		16317841	-1	no_errors	ENST00000407010	ensembl	human	known	74_37	silent	SNP	0.998	C	C	16317841	G	C	16317841	2	2	229	1	0	0	0	0	0	0	0	1	7866	1219	43	4		4	ISPD	7	16317841	Silent	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	10969901	16317841	142820822	69	18457											
KLHL7	55975	genome.wustl.edu	37	chr7	23164369	23164369	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctgaacctgatattattGaacaactggtggaatttgct	9	6	0	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:23164369G>T	ENST00000339077.5	+	3	529	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	KLHL7_ENST00000410047.1_Nonsense_Mutation_p.E74*|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322231.7_Nonsense_Mutation_p.E74*|KLHL7_ENST00000409689.1_Nonsense_Mutation_p.E48*|KLHL7_ENST00000322275.5_Nonsense_Mutation_p.E96*|KLHL7_ENST00000545443.1_Nonsense_Mutation_p.E74*|KLHL7_ENST00000539124.1_Nonsense_Mutation_p.E20*|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000545771.1_Nonsense_Mutation_p.E74*	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGATATTATTGAACAACTGGT	0.338																																																	0								ENSG00000122550						122	115	117					7																	23164369		2203	4300	6503	KLHL7	SO:0001587	stop_gained	0			-	HGNC		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.286G>T	7.37:g.23164369G>T	ENSP00000343273:p.Glu96*	Somatic	0	41	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Nonsense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E96*	ENST00000339077.5	37	c.286	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.614003	0.97705	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	.	.	.	5.77	4.89	0.63831	.	0.044673	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	15.2412	0.73471	0.0676:0.0:0.9324:0.0	.	.	.	.	X	96;74;96;96;20;48;74;74;74	.	ENSP00000322958:E74X	E	+	1	0	KLHL7	23130894	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.894000	0.92506	1.581000	0.49865	0.655000	0.94253	GAA	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.338	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	protein_coding	OTTHUMT00000326860.3	G	NM_018846	-		23164369	1	no_errors	ENST00000339077	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	23164369	G	T	23164369	4	4	229	1	0	0	0	0	0	1	0	0	8396	1291	45	3	296	3	KLHL7	7	23164369	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	6846528	23164369	135974294	70	18458											
URGCP	55665	genome.wustl.edu	37	chr7	43918207	43918207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccactgcctgtggccCgggctgaggacggcgttgag	16	13	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:43918207C>T	ENST00000453200.1	-	6	1348	c.855G>A	c.(853-855)ccG>ccA	p.P285P	URGCP_ENST00000402306.3_Silent_p.P276P|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Silent_p.P242P|URGCP_ENST00000336086.6_Silent_p.P242P|URGCP_ENST00000223341.7_Silent_p.P242P|URGCP_ENST00000447717.3_Silent_p.P242P			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	285					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTGTGGCCCGGGCTGAGGA	0.592																																																	0								ENSG00000106608						41	45	44					7																	43918207		2009	4163	6172	URGCP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.855G>A	7.37:g.43918207C>T		Somatic	0	36	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP							superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.P285	ENST00000453200.1	37	c.855	CCDS47578.1	7																																																																																			-	NULL		0.592	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	protein_coding	OTTHUMT00000338995.1	C	NM_001077664	-		43918207	-1	no_errors	ENST00000453200	ensembl	human	known	74_37	silent	SNP	0.000	T	T	43918207	C	T	43918207	2	4	229	1	0	0	0	0	0	0	0	1	17033	639	23	1		1	URGCP	7	43918207	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	20753838	43918207	115220456	71	18459											
ABCA13	154664	genome.wustl.edu	37	chr7	48427476	48427476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgcctcatattggaagaGtgtgggtttcttggtggaga	14	5	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:48427476G>T	ENST00000435803.1	+	36	11417	c.11393G>T	c.(11392-11394)aGt>aTt	p.S3798I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3798					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATTGGAAGAGTGTGGGTTTC	0.318																																																	0								ENSG00000179869						114	110	111					7																	48427476		1815	4078	5893	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11393G>T	7.37:g.48427476G>T	ENSP00000411096:p.Ser3798Ile	Somatic	0	26	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S3798I	ENST00000435803.1	37	c.11393	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117171	0.37339	.	.	ENSG00000179869	ENST00000435803	D	0.85861	-2.04	5.36	-3.88	0.04205	.	0.609607	0.14957	N	0.288612	T	0.79076	0.4385	L	0.52011	1.625	0.09310	N	0.999997	D;P	0.53151	0.958;0.718	P;B	0.45506	0.483;0.316	T	0.73219	-0.4052	10	0.66056	D	0.02	.	8.1808	0.31309	0.6617:0.1384:0.1999:0.0	.	1500;3798	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3798	ENSP00000411096:S3798I	ENSP00000411096:S3798I	S	+	2	0	ABCA13	48398022	0.040000	0.19996	0.000000	0.03702	0.061000	0.15899	0.262000	0.18460	-0.707000	0.05022	0.655000	0.94253	AGT	-	NULL		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48427476	1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.003	T	T	48427476	G	T	48427476	3	4	229	1	0	0	0	0	1	0	0	0	31	1029	36	3	11364	3	ABCA13	7	48427476	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	4509269	48427476	110711187	72	18460											
DBF4	10926	genome.wustl.edu	37	chr7	87536511	87536512	+	Frame_Shift_Del	DEL	AC	AC	-													tttcctacaaagaataaaatAcagtgttggatccctttctc							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:87536511_87536512delAC	ENST00000265728.1	+	12	1562_1563	c.1058_1059delAC	c.(1057-1059)tacfs	p.Y353fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	353					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AGAATAAAATACAGTGTTGGAT	0.292																																																	0								ENSG00000006634																																			DBF4	SO:0001589	frameshift_variant	0				HGNC	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1058_1059delAC	7.37:g.87536511_87536512delAC	ENSP00000265728:p.Tyr353fs	Somatic	0	62	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	24	55.56	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Frame_Shift_Del	DEL							pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.Y353fs	ENST00000265728.1	37	c.1058_1059	CCDS5611.1	7																																																																																			-	NULL		0.292	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	protein_coding	OTTHUMT00000253678.1	AC	NM_006716			87536512	1	no_errors	ENST00000265728	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.998	-	-	87536512	AC	-	87536511	7	5	229	1	0	1	0	1	0	0	0	0	4250	391	14	0	1104	0	DBF4	7	87536511	Frame_Shift_Del	DEL	AC	TCGA-WP-A9GB-01A-11D-A37C-09	39109035	87536511	71602152	73	18461											
BAIAP2L1	55971	genome.wustl.edu	37	chr7	97984424	97984424	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actccatcgtagtaggctttTcctgccaggatcatagctag	9	11	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:97984424T>A	ENST00000005260.8	-	3	359	c.144A>T	c.(142-144)ggA>ggT	p.G48G	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	48	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				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)			AGTAGGCTTTTCCTGCCAGGA	0.488																																																	0								ENSG00000006453						103	83	90					7																	97984424		2203	4300	6503	BAIAP2L1	SO:0001819	synonymous_variant	0			-	HGNC	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.144A>T	7.37:g.97984424T>A		Somatic	0	37	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	15	46.43	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP							pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.G48	ENST00000005260.8	37	c.144	CCDS34687.1	7																																																																																			-	pfam_IRSp53/MIM_homology_IMD		0.488	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	protein_coding	OTTHUMT00000334681.1	T	NM_018842	-		97984424	-1	no_errors	ENST00000005260	ensembl	human	known	74_37	silent	SNP	1.000	A	A	97984424	T	A	97984424	2	1	229	1	0	0	0	0	0	0	0	1	1302	1770	62	5		5	BAIAP2L1	7	97984424	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	10447913	97984424	61154239	74	18462											
DENND2A	27147	genome.wustl.edu	37	chr7	140267007	140267007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcgatgagttcccggGcaagtgatgggtaccgaggc	16	9	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:140267007G>A	ENST00000275884.6	-	8	2075	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	DENND2A_ENST00000537639.1_Missense_Mutation_p.A553V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A553V|DENND2A_ENST00000496613.1_Missense_Mutation_p.A553V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	553					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGTTCCCGGGCAAGTGATGG	0.587																																																	0								ENSG00000146966						39	43	42					7																	140267007		1925	4141	6066	DENND2A	SO:0001583	missense	0			-	HGNC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1658C>T	7.37:g.140267007G>A	ENSP00000275884:p.Ala553Val	Somatic	0	21	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A553V	ENST00000275884.6	37	c.1658	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387268	0.61956	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.09911	3.64;3.64;3.64;2.93	5.86	2.06	0.26882	.	0.282061	0.33792	N	0.004554	T	0.05914	0.0154	N	0.08118	0	0.27029	N	0.964299	B;B	0.31256	0.316;0.017	B;B	0.29353	0.101;0.053	T	0.23511	-1.0186	10	0.41790	T	0.15	-18.4326	13.5059	0.61483	0.0:0.0:0.3791:0.6209	.	553;553	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	V	553	ENSP00000275884:A553V;ENSP00000442245:A553V;ENSP00000419654:A553V;ENSP00000419464:A553V	ENSP00000275884:A553V	A	-	2	0	DENND2A	139913476	1.000000	0.71417	0.801000	0.32222	0.946000	0.59487	5.806000	0.69150	0.107000	0.17824	-0.262000	0.10625	GCC	-	NULL		0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	protein_coding	OTTHUMT00000348742.1	G	NM_015689	-		140267007	-1	no_errors	ENST00000275884	ensembl	human	known	74_37	missense	SNP	1.000	A	A	140267007	G	A	140267007	3	1	229	1	0	0	0	0	1	0	0	0	4431	1203	42	2	1419	2	DENND2A	7	140267007	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	42282583	140267007	18871656	75	18463											
FAM131B	9715	genome.wustl.edu	37	chr7	143055944	143055944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaaaacgtgcctccttctCgccatcgctgaggtcggagt	11	12	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:143055944C>T	ENST00000409408.1	-	4	2066	c.358G>A	c.(358-360)Gag>Aag	p.E120K	FAM131B_ENST00000409578.1_Missense_Mutation_p.E136K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E148K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E120K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E120K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	120										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCCTCCTTCTCGCCATCGCTG	0.587																																																	0								ENSG00000159784						82	76	78					7																	143055944		2203	4299	6502	FAM131B	SO:0001583	missense	0			-	HGNC	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.358G>A	7.37:g.143055944C>T	ENSP00000387017:p.Glu120Lys	Somatic	0	73	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP							NULL	p.E148K	ENST00000409408.1	37	c.442	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033168	0.93575	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.991;0.994	T	0.69379	-0.5161	10	0.87932	D	0	-11.8725	18.8528	0.92240	0.0:1.0:0.0:0.0	.	136;120	Q86XD5-2;Q86XD5	.;F131B_HUMAN	K	148;136;120;124;120;120	ENSP00000410603:E148K;ENSP00000386568:E136K;ENSP00000386984:E120K;ENSP00000387017:E120K;ENSP00000387147:E120K	ENSP00000387147:E120K	E	-	1	0	FAM131B	142766066	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.696000	0.68287	2.442000	0.82660	0.561000	0.74099	GAG	-	NULL		0.587	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	protein_coding	OTTHUMT00000328057.1	C	NM_014690	-		143055944	-1	no_errors	ENST00000443739	ensembl	human	known	74_37	missense	SNP	1.000	T	T	143055944	C	T	143055944	3	4	229	1	0	0	0	0	1	0	0	0	5442	893	31	1	652	1	FAM131B	7	143055944	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	2788937	143055944	16082719	76	18464											
ABP1	26	genome.wustl.edu	37	chr7	150554422	150554422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctcccacaagccccgCggggacttccccagccccat	7	21	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr7:150554422C>T	ENST00000493429.1	+	4	1448	c.864C>T	c.(862-864)cgC>cgT	p.R288R	AOC1_ENST00000416793.2_Silent_p.R288R|AOC1_ENST00000360937.4_Silent_p.R288R|AOC1_ENST00000467291.1_Silent_p.R288R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	288					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACAAGCCCCGCGGGGACTTCC	0.697																																																	0								ENSG00000002726						12	14	13					7																	150554422		1960	4127	6087	AOC1	SO:0001819	synonymous_variant	0			-	HGNC	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.864C>T	7.37:g.150554422C>T		Somatic	0	63	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP							pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R288	ENST00000493429.1	37	c.864	CCDS43679.1	7																																																																																			-	superfamily_Cu_amine_oxidase_N-reg		0.697	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	protein_coding	OTTHUMT00000350628.1	C	NM_001091	-		150554422	1	no_errors	ENST00000416793	ensembl	human	known	74_37	silent	SNP	0.019	T	T	150554422	C	T	150554422	2	4	229	1	0	0	0	0	0	0	0	1	98	755	27	1		1	ABP1	7	150554422	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	7498478	150554422	8584241	77	18465											
MYOM2	9172	genome.wustl.edu	37	chr8	2033509	2033509	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaggacccgctcatgtActtcattgagaaggtaaact	10	9	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:2033509A>T	ENST00000262113.4	+	14	1772	c.1631A>T	c.(1630-1632)tAc>tTc	p.Y544F	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	544	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCGCTCATGTACTTCATTGAG	0.597																																																	0								ENSG00000036448						54	48	50					8																	2033509		2203	4300	6503	MYOM2	SO:0001583	missense	0			-	HGNC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1631A>T	8.37:g.2033509A>T	ENSP00000262113:p.Tyr544Phe	Somatic	0	56	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q7Z3Y2	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y544F	ENST00000262113.4	37	c.1631	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295025	0.60086	.	.	ENSG00000036448	ENST00000262113	T	0.75704	-0.96	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89612	0.3842	10	0.87932	D	0	.	16.072	0.80941	1.0:0.0:0.0:0.0	.	544	P54296	MYOM2_HUMAN	F	544	ENSP00000262113:Y544F	ENSP00000262113:Y544F	Y	+	2	0	MYOM2	2020916	1.000000	0.71417	0.955000	0.39395	0.215000	0.24574	9.001000	0.93568	2.188000	0.69820	0.529000	0.55759	TAC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	A	NM_003970	-		2033509	1	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2033509	A	T	2033509	3	4	229	1	0	0	0	0	1	0	0	0	10094	391	14	5	1681	5	MYOM2	8	2033509	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09		2033509	144330513	78	18466											
CHMP7	91782	genome.wustl.edu	37	chr8	23116317	23116317	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtcacagtggagaaggcaGagagcctcgtggatcagatc	14	8	2	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:23116317G>T	ENST00000397677.1	+	8	1681	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Nonsense_Mutation_p.E345*	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	345					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGAGAAGGCAGAGAGCCTCGT	0.507																																																	0								ENSG00000147457						57	54	55					8																	23116317		2203	4300	6503	CHMP7	SO:0001587	stop_gained	0			-	HGNC	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1033G>T	8.37:g.23116317G>T	ENSP00000380794:p.Glu345*	Somatic	0	34	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Nonsense_Mutation	SNP							pfam_Snf7	p.E345*	ENST00000397677.1	37	c.1033	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	G	44	10.601694	0.99435	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-23.9702	18.9918	0.92796	0.0:0.0:1.0:0.0	.	.	.	.	X	345	.	ENSP00000324491:E345X	E	+	1	0	CHMP7	23172262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.234000	0.95347	2.837000	0.97791	0.655000	0.94253	GAG	-	pfam_Snf7		0.507	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	protein_coding	OTTHUMT00000254717.1	G	NM_152272	-		23116317	1	no_errors	ENST00000313219	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	23116317	G	T	23116317	4	4	229	1	0	0	0	0	0	1	0	0	3363	943	33	3	1059	3	CHMP7	8	23116317	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	21082808	23116317	123247705	79	18467											
FZD3	7976	genome.wustl.edu	37	chr8	28385628	28385628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaccggggcatctgggaaAcaacgtggatacaagaacgc	12	10	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:28385628A>G	ENST00000240093.3	+	5	1829	c.1351A>G	c.(1351-1353)Aca>Gca	p.T451A	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.T451A	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	451					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CATCTGGGAAACAACGTGGAT	0.398																																																	0								ENSG00000104290						130	128	129					8																	28385628		2203	4300	6503	FZD3	SO:0001583	missense	0			-	HGNC	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1351A>G	8.37:g.28385628A>G	ENSP00000240093:p.Thr451Ala	Somatic	0	30	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A8K615	Missense_Mutation	SNP							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.T451A	ENST00000240093.3	37	c.1351	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	A	6.457	0.452440	0.12283	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.81579	-1.51;-1.51	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.046680	0.85682	D	0.000000	T	0.76990	0.4065	L	0.37630	1.12	0.52501	D	0.999951	B	0.32862	0.387	B	0.42959	0.403	T	0.71708	-0.4511	10	0.14252	T	0.57	.	14.3149	0.66443	1.0:0.0:0.0:0.0	.	451	Q9NPG1	FZD3_HUMAN	A	451	ENSP00000437489:T451A;ENSP00000240093:T451A	ENSP00000240093:T451A	T	+	1	0	FZD3	28441547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.060000	0.61445	0.460000	0.39030	ACA	-	pfam_Frizzled,pfscan_GPCR_2-like		0.398	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	protein_coding	OTTHUMT00000219986.2	A	NM_145866	-		28385628	1	no_errors	ENST00000240093	ensembl	human	known	74_37	missense	SNP	1.000	G	G	28385628	A	G	28385628	3	3	229	1	0	0	0	0	1	0	0	0	6133	43	2	5	1361	5	FZD3	8	28385628	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	5269311	28385628	117978394	80	18468											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75928820	75928820	+	Missense_Mutation	SNP	C	C	T													aagggtcagacaggtattatCcccctcgagaagaggaaaca							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:75928820C>T	ENST00000262207.4	+	7	1216	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.P64S|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.P62S	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	250					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)			CAGGTATTATCCCCCTCGAGA	0.363																																																	0								ENSG00000121005						117	122	120					8																	75928820		2203	4300	6503	CRISPLD1	SO:0001583	missense	0			-	HGNC	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.748C>T	8.37:g.75928820C>T	ENSP00000262207:p.Pro250Ser	Somatic	0	24	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	B2RA60|B7Z929	Missense_Mutation	SNP							pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.P250S	ENST00000262207.4	37	c.748	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	0.157	-1.085513	0.01873	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;T	0.80824	0.35;-1.13;-1.42	4.98	-2.83	0.05769	.	0.454838	0.25663	N	0.029133	T	0.45357	0.1338	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	0.42396	-0.9454	10	0.13470	T	0.59	.	2.72	0.05198	0.401:0.3389:0.0958:0.1643	.	64;250	B7Z929;Q9H336	.;CRLD1_HUMAN	S	250;62;64	ENSP00000262207:P250S;ENSP00000430105:P62S;ENSP00000429746:P64S	ENSP00000262207:P250S	P	+	1	0	CRISPLD1	76091375	0.002000	0.14202	0.033000	0.17914	0.007000	0.05969	-0.045000	0.12003	-0.737000	0.04824	-2.122000	0.00348	CCC	-	NULL		0.363	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	C	NM_031461	-		75928820	1	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	SNP	0.019	T	T	75928820	C	T	75928820	3	4	229	1	0	0	0	0	1	0	0	0	3884	855	30	2	770	2	CRISPLD1	8	75928820	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	47543192	75928820	70435202	81	18469	492	2									
CRISPLD1	83690	genome.wustl.edu	37	chr8	75928821	75928821	+	Missense_Mutation	SNP	C	C	T													agggtcagacaggtattatcCccctcgagaagaggaaacaa							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:75928821C>T	ENST00000262207.4	+	7	1217	c.749C>T	c.(748-750)cCc>cTc	p.P250L	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.P64L|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.P62L	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	250					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)			AGGTATTATCCCCCTCGAGAA	0.368																																																	0								ENSG00000121005						117	122	121					8																	75928821		2203	4300	6503	CRISPLD1	SO:0001583	missense	0			-	HGNC	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.749C>T	8.37:g.75928821C>T	ENSP00000262207:p.Pro250Leu	Somatic	0	24	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B2RA60|B7Z929	Missense_Mutation	SNP							pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.P250L	ENST00000262207.4	37	c.749	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	9.622	1.134214	0.21123	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;T	0.81415	0.3;-1.19;-1.49	4.98	4.98	0.66077	.	0.454838	0.25663	N	0.029133	T	0.67239	0.2872	N	0.08118	0	0.09310	N	0.999999	B;B	0.12630	0.006;0.006	B;B	0.11329	0.006;0.006	T	0.58463	-0.7632	10	0.45353	T	0.12	.	18.8032	0.92027	0.0:1.0:0.0:0.0	.	64;250	B7Z929;Q9H336	.;CRLD1_HUMAN	L	250;62;64	ENSP00000262207:P250L;ENSP00000430105:P62L;ENSP00000429746:P64L	ENSP00000262207:P250L	P	+	2	0	CRISPLD1	76091376	0.885000	0.30320	0.039000	0.18376	0.015000	0.08874	4.772000	0.62324	2.734000	0.93682	0.650000	0.86243	CCC	-	NULL		0.368	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	C	NM_031461	-		75928821	1	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	SNP	0.166	T	T	75928821	C	T	75928821	3	4	229	1	0	0	0	0	1	0	0	0	3884	623	22	2	771	2	CRISPLD1	8	75928821	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	1	75928821	70435201	82	18470	492	2									
CRISPLD1	83690	genome.wustl.edu	37	chr8	75928896	75928896	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacccatgtccggacaagatCagatgatagtagcagaaatg	10	9	1	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:75928896C>T	ENST00000262207.4	+	7	1292	c.824C>T	c.(823-825)tCa>tTa	p.S275L	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S89L|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S87L	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	275					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)			CGGACAAGATCAGATGATAGT	0.393																																																	0								ENSG00000121005						171	180	177					8																	75928896		2203	4300	6503	CRISPLD1	SO:0001583	missense	0			-	HGNC	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.824C>T	8.37:g.75928896C>T	ENSP00000262207:p.Ser275Leu	Somatic	0	35	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	B2RA60|B7Z929	Missense_Mutation	SNP							pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.S275L	ENST00000262207.4	37	c.824	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061757	0.55432	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;D	0.81821	0.25;-1.22;-1.54	4.98	4.98	0.66077	.	0.756062	0.12799	N	0.438188	T	0.75510	0.3859	L	0.34521	1.04	0.42406	D	0.992583	B;B	0.17038	0.009;0.02	B;B	0.14023	0.006;0.01	T	0.68014	-0.5521	10	0.44086	T	0.13	.	18.8032	0.92027	0.0:1.0:0.0:0.0	.	89;275	B7Z929;Q9H336	.;CRLD1_HUMAN	L	275;87;89	ENSP00000262207:S275L;ENSP00000430105:S87L;ENSP00000429746:S89L	ENSP00000262207:S275L	S	+	2	0	CRISPLD1	76091451	0.366000	0.25014	0.958000	0.39756	0.524000	0.34500	0.804000	0.27098	2.734000	0.93682	0.650000	0.86243	TCA	-	NULL		0.393	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	C	NM_031461	-		75928896	1	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	SNP	0.998	T	T	75928896	C	T	75928896	3	4	229	1	0	0	0	0	1	0	0	0	3884	838	29	2	846	2	CRISPLD1	8	75928896	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	75	75928896	70435126	83	18471											
RNF139	83940	genome.wustl.edu	37	chr8	125498135	125498144	+	IGR	DEL	ACAGCTCAGC	ACAGCTCAGC	-													acttttcaagttttacacgtAcagctcagcctttctgttag							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	ACAGCTCAGC	ACAGCTCAGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:125498135_125498144delACAGCTCAGC	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Frame_Shift_Del_p.YSSA82fs	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTACACGTACAGCTCAGCCTTTCTGTTA	0.376																																																	0								ENSG00000170881																																			RNF139	SO:0001628	intergenic_variant	0				HGNC	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498135_125498144delACAGCTCAGC		Somatic					0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2R5J0|Q8TD02|Q9BY40	Frame_Shift_Del	DEL							pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.Y82fs	ENST00000276692.6	37	c.245_254	CCDS6351.1	8																																																																																			-	NULL		0.376	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF139	protein_coding	OTTHUMT00000381655.1	ACAGCTCAGC	NM_032026			125498144	1	no_errors	ENST00000303545	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:0.999:0.974:0.827:0.753:1.000:1.000	-	-	125498144	ACAGCTCAGC	-	125498135	6	5	229	0	1	1	0	1	0	0	0	0	13450	391	14	0		0	RNF139	8	125498135	IGR	DEL	ACAGCTCAGC	TCGA-WP-A9GB-01A-11D-A37C-09	49569239	125498135	20865887	84	18472											
BAI1	575	genome.wustl.edu	37	chr8	143558855	143558855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccccagtttgggggcaaCccctgtgagggccctgagaa	13	15	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr8:143558855C>A	ENST00000517894.1	+	6	2226	c.1332C>A	c.(1330-1332)aaC>aaA	p.N444K	BAI1_ENST00000323289.5_Missense_Mutation_p.N444K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	444	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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)					TTGGGGGCAACCCCTGTGAGG	0.647																																																	0								ENSG00000181790						44	53	50					8																	143558855		1981	4156	6137	BAI1	SO:0001583	missense	0			-	HGNC	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.1332C>A	8.37:g.143558855C>A	ENSP00000430945:p.Asn444Lys	Somatic	0	73	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	22	58.49		Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.N444K	ENST00000517894.1	37	c.1332		8	.	.	.	.	.	.	.	.	.	.	C	7.660	0.684811	0.14973	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.50548	0.74;0.74	4.18	4.18	0.49190	.	0.291778	0.32190	U	0.006460	T	0.19927	0.0479	N	0.00869	-1.13	0.39288	D	0.964688	P	0.50528	0.936	P	0.45753	0.492	T	0.35325	-0.9793	10	0.02654	T	1	.	15.816	0.78599	0.0:1.0:0.0:0.0	.	444	E9PBK0	.	K	444	ENSP00000430945:N444K;ENSP00000313046:N444K	ENSP00000313046:N444K	N	+	3	2	BAI1	143555857	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.118000	0.31246	2.000000	0.58554	0.491000	0.48974	AAC	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	C	NM_001702	-		143558855	1	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	SNP	1.000	A	A	143558855	C	A	143558855	3	1	229	1	0	0	0	0	1	0	0	0	1298	506	18	3	1350	3	BAI1	8	143558855	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	18060720	143558855	2805167	85	18473											
NPR2	4882	genome.wustl.edu	37	chr9	35799691	35799691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatcgtctgctgataagagCccgggaagactttggtgtgg	15	7	1	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr9:35799691C>A	ENST00000342694.2	+	3	1205	c.950C>A	c.(949-951)gCc>gAc	p.A317D		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	317					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGATAAGAGCCCGGGAAGAC	0.522																																																	0								ENSG00000159899						123	123	123					9																	35799691		2203	4300	6503	NPR2	SO:0001583	missense	0			-	HGNC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.950C>A	9.37:g.35799691C>A	ENSP00000341083:p.Ala317Asp	Somatic	0	62	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	63	16.00	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.A317D	ENST00000342694.2	37	c.950	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561432	0.86335	.	.	ENSG00000159899	ENST00000342694	D	0.83250	-1.7	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.43416	D	0.000575	D	0.90246	0.6950	M	0.82323	2.585	0.80722	D	1	D;P	0.59767	0.986;0.908	D;P	0.63957	0.92;0.717	D	0.87593	0.2492	10	0.18710	T	0.47	.	16.9713	0.86301	0.0:1.0:0.0:0.0	.	317;317	P20594-2;P20594	.;ANPRB_HUMAN	D	317	ENSP00000341083:A317D	ENSP00000341083:A317D	A	+	2	0	NPR2	35789691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.146000	0.71777	2.699000	0.92147	0.655000	0.94253	GCC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	protein_coding	OTTHUMT00000052345.1	C		-		35799691	1	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35799691	C	A	35799691	3	1	229	1	0	0	0	0	1	0	0	0	10597	739	26	3	960	3	NPR2	9	35799691	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		35799691	105413740	86	18474											
POLR1E	64425	genome.wustl.edu	37	chr9	37486117	37486117	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgggagccagagagctgtaCtgggtaaagactgcggagct	16	8	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr9:37486117C>G	ENST00000377798.4	+	1	186	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	POLR1E_ENST00000442009.2_5'UTR|POLR1E_ENST00000377792.3_5'Flank	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GAGAGCTGTACTGGGTAAAGA	0.642																																					Ovarian(116;843 1620 18506 32459 34463)												0								ENSG00000137054						50	43	46					9																	37486117		2203	4297	6500	POLR1E	SO:0001583	missense	0			-	HGNC	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.73C>G	9.37:g.37486117C>G	ENSP00000367029:p.Leu25Val	Somatic	0	153	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	155	16.22	O75395|Q5JTE3	Missense_Mutation	SNP							pfam_RNA_pol-assoc_fac_A49-like	p.L25V	ENST00000377798.4	37	c.73	CCDS6611.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273276	0.80580	.	.	ENSG00000137054	ENST00000377798;ENST00000421959	T	0.24908	1.83	5.21	5.21	0.72293	.	.	.	.	.	T	0.11024	0.0269	N	0.08118	0	0.80722	D	1	P;B	0.38788	0.647;0.347	B;B	0.32465	0.091;0.146	T	0.14868	-1.0457	9	0.07325	T	0.83	.	14.1269	0.65228	0.0:1.0:0.0:0.0	.	25;25	B4DW33;Q9GZS1-2	.;.	V	25	ENSP00000367029:L25V	ENSP00000367029:L25V	L	+	1	2	POLR1E	37476117	0.982000	0.34865	1.000000	0.80357	0.979000	0.70002	1.368000	0.34216	2.721000	0.93114	0.655000	0.94253	CTG	-	NULL		0.642	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1E	protein_coding	OTTHUMT00000052464.1	C	NM_022490	-		37486117	1	no_errors	ENST00000377798	ensembl	human	known	74_37	missense	SNP	0.997	G	G	37486117	C	G	37486117	3	3	229	1	0	0	0	0	1	0	0	0	12215	564	20	4	75	4	POLR1E	9	37486117	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	1686426	37486117	103727314	87	18475											
BAAT	570	genome.wustl.edu	37	chr9	104124900	104124900	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtggcctgccccagggtaaGatagcagggtccagttgttc	15	10	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr9:104124900G>T	ENST00000395051.3	-	3	1137	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	BAAT_ENST00000259407.2_Missense_Mutation_p.S356Y			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	356					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)			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)	CCCAGGGTAAGATAGCAGGGT	0.512																																																	0								ENSG00000136881						234	197	210					9																	104124900		2203	4300	6503	BAAT	SO:0001583	missense	0			-	HGNC	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.1067C>A	9.37:g.104124900G>T	ENSP00000378491:p.Ser356Tyr	Somatic	0	46	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q3B7W9|Q96L31	Missense_Mutation	SNP							pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.S356Y	ENST00000395051.3	37	c.1067	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495254	0.44352	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.42131	0.98;0.98	4.96	4.05	0.47172	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.273852	0.30979	N	0.008483	T	0.46946	0.1419	L	0.52364	1.645	0.33071	D	0.535427	D	0.76494	0.999	D	0.67103	0.949	T	0.53041	-0.8494	10	0.02654	T	1	-2.8628	8.2521	0.31732	0.0:0.1727:0.6483:0.179	.	356	Q14032	BAAT_HUMAN	Y	356	ENSP00000259407:S356Y;ENSP00000378491:S356Y	ENSP00000259407:S356Y	S	-	2	0	BAAT	103164721	0.000000	0.05858	0.985000	0.45067	0.966000	0.64601	-0.156000	0.10100	1.276000	0.44395	0.655000	0.94253	TCT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain		0.512	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	protein_coding	OTTHUMT00000053433.1	G		-		104124900	-1	no_errors	ENST00000259407	ensembl	human	known	74_37	missense	SNP	0.923	T	T	104124900	G	T	104124900	3	4	229	1	0	0	0	0	1	0	0	0	1280	942	33	3	193	3	BAAT	9	104124900	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	66638783	104124900	37088531	88	18476											
OR1N1	138883	genome.wustl.edu	37	chr9	125289383	125289383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccatgtcaacaaaagacaGgttggccaagaaaaagtaca	8	9	1	2	rs539467595		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr9:125289383G>T	ENST00000304880.2	-	1	189	c.190C>A	c.(190-192)Ctg>Atg	p.L64M		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	64						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)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAAAAGACAGGTTGGCCAAG	0.498																																																	0								ENSG00000171505						85	81	82					9																	125289383		2203	4300	6503	OR1N1	SO:0001583	missense	0			-	HGNC	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.190C>A	9.37:g.125289383G>T	ENSP00000306974:p.Leu64Met	Somatic	0	67	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	0	100.00	A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64M	ENST00000304880.2	37	c.190	CCDS6844.1	9	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568309	0.45798	.	.	ENSG00000171505	ENST00000304880	T	0.00590	6.36	3.55	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29218	U	0.012781	T	0.03095	0.0091	M	0.93808	3.46	0.28214	N	0.926792	D	0.89917	1.0	D	0.91635	0.999	T	0.12167	-1.0558	10	0.87932	D	0	.	6.0476	0.19768	0.4362:0.0:0.5638:0.0	.	64	Q8NGS0	OR1N1_HUMAN	M	64	ENSP00000306974:L64M	ENSP00000306974:L64M	L	-	1	2	OR1N1	124329204	0.000000	0.05858	0.634000	0.29324	0.893000	0.52053	-1.389000	0.02530	0.230000	0.21059	-0.284000	0.09977	CTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	protein_coding	OTTHUMT00000053938.1	G		-		125289383	-1	no_errors	ENST00000304880	ensembl	human	known	74_37	missense	SNP	0.973	T	T	125289383	G	T	125289383	3	4	229	1	0	0	0	0	1	0	0	0	10971	991	35	3	749	3	OR1N1	9	125289383	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	21164483	125289383	15924048	89	18477											
LAMC3	10319	genome.wustl.edu	37	chr9	133954554	133954554	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcctcagaagtcccgggctGaagacctgggcctgaaggcg	15	12	1	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr9:133954554G>T	ENST00000361069.4	+	23	3929	c.3796G>T	c.(3796-3798)Gaa>Taa	p.E1266*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1266	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCCCGGGCTGAAGACCTGGG	0.642																																																	0								ENSG00000050555						40	35	37					9																	133954554		2203	4299	6502	LAMC3	SO:0001587	stop_gained	0			-	HGNC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3796G>T	9.37:g.133954554G>T	ENSP00000354360:p.Glu1266*	Somatic	0	51	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP							pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1266*	ENST00000361069.4	37	c.3796	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	41	8.986704	0.99027	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	.	.	.	4.24	-6.31	0.02001	.	1.276560	0.04939	N	0.458256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	7.472	0.27355	0.5824:0.2645:0.1531:0.0	.	.	.	.	X	1266	.	ENSP00000347156:E1266X	E	+	1	0	LAMC3	132944375	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.460000	0.02368	-1.259000	0.02468	0.561000	0.74099	GAA	-	NULL		0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	protein_coding	OTTHUMT00000054717.3	G	NM_006059	-		133954554	1	no_errors	ENST00000361069	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	133954554	G	T	133954554	4	4	229	1	0	0	0	0	0	1	0	0	8618	1291	45	3	3886	3	LAMC3	9	133954554	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	8665171	133954554	7258877	90	18478											
DBH	1621	genome.wustl.edu	37	chr9	136521767	136521767	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaagtacttccacctcatCaacaggtgagggctccctgc	9	14	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr9:136521767C>A	ENST00000393056.2	+	10	1569	c.1557C>A	c.(1555-1557)atC>atA	p.I519I	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	519					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCCACCTCATCAACAGGTGAG	0.617																																																	0								ENSG00000123454						43	39	41					9																	136521767		2203	4300	6503	DBH	SO:0001819	synonymous_variant	0			-	HGNC	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1557C>A	9.37:g.136521767C>A		Somatic	0	32	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85	Q5T381|Q96AG2	Silent	SNP							pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.I519	ENST00000393056.2	37	c.1557	CCDS6977.2	9																																																																																			-	superfamily_PHM/PNGase_F_dom		0.617	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	protein_coding	OTTHUMT00000054929.2	C	NM_000787	-		136521767	1	no_errors	ENST00000393056	ensembl	human	known	74_37	silent	SNP	0.121	A	A	136521767	C	A	136521767	2	1	229	1	0	0	0	0	0	0	0	1	4252	816	29	3		3	DBH	9	136521767	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	2567213	136521767	4691664	91	18479											
CALML5	51806	genome.wustl.edu	37	chr10	5541395	5541395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaggagtcagctcacCggccatgcctgcgtctcctg	10	17	4	0	rs564031513		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr10:5541395C>T	ENST00000380332.3	-	1	138	c.7G>A	c.(7-9)Ggt>Agt	p.G3S		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	3					epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G3S(1)		biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTCAGCTCACCGGCCATGCCT	0.652																																					GBM(149;1055 3356 43077)												1	Substitution - Missense(1)	biliary_tract(1)						ENSG00000178372						75	74	74					10																	5541395		2203	4300	6503	CALML5	SO:0001583	missense	0			-	HGNC	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"EF-hand domain containing"	18180	protein-coding gene	gene with protein product	"calmodulin-like skin protein"	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.7G>A	10.37:g.5541395C>T	ENSP00000369689:p.Gly3Ser	Somatic	0	27	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	0	100.00	Q5SQI3|Q8IXU8	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.G3S	ENST00000380332.3	37	c.7	CCDS7068.1	10	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522651	0.44866	.	.	ENSG00000178372	ENST00000380332	T	0.35605	1.3	4.49	-0.106	0.13596	EF-hand-like domain (1);	0.831806	0.10493	N	0.668160	T	0.13457	0.0326	N	0.05124	-0.11	0.09310	N	1	P	0.39665	0.682	B	0.22880	0.042	T	0.11084	-1.0602	10	0.66056	D	0.02	-23.9492	8.3255	0.32153	0.0:0.4356:0.4713:0.0931	.	3	Q9NZT1	CALL5_HUMAN	S	3	ENSP00000369689:G3S	ENSP00000369689:G3S	G	-	1	0	CALML5	5531395	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.047000	0.11963	0.164000	0.19529	0.655000	0.94253	GGT	-	NULL		0.652	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML5	protein_coding	OTTHUMT00000046556.1	C	NM_017422	-		5541395	-1	no_errors	ENST00000380332	ensembl	human	known	74_37	missense	SNP	0.001	T	T	5541395	C	T	5541395	3	4	229	1	0	0	0	0	1	0	0	0	2591	652	23	1	437	1	CALML5	10	5541395	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		5541395	129993352	92	18480											
CUBN	8029	genome.wustl.edu	37	chr10	16979734	16979734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagattcagtctgggtaCcacagtaagctccaattagg	10	8	2	2	rs201513648		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr10:16979734C>T	ENST00000377833.4	-	39	5848	c.5783G>A	c.(5782-5784)gGt>gAt	p.G1928D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1928	CUB 13. {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)			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)	AGTCTGGGTACCACAGTAAGC	0.398																																																	0								ENSG00000107611						65	70	69					10																	16979734		2203	4300	6503	CUBN	SO:0001583	missense	0			-	HGNC	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.5783G>A	10.37:g.16979734C>T	ENSP00000367064:p.Gly1928Asp	Somatic	0	63	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	14	63.16	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP							pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.G1928D	ENST00000377833.4	37	c.5783	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555202	0.86231	.	.	ENSG00000107611	ENST00000377833	T	0.64991	-0.13	5.14	5.14	0.70334	CUB (5);	0.000000	0.39759	N	0.001267	D	0.82609	0.5074	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85642	0.1277	10	0.72032	D	0.01	.	18.9546	0.92654	0.0:1.0:0.0:0.0	.	1928	O60494	CUBN_HUMAN	D	1928	ENSP00000367064:G1928D	ENSP00000367064:G1928D	G	-	2	0	CUBN	17019740	1.000000	0.71417	0.980000	0.43619	0.857000	0.48899	6.780000	0.75063	2.531000	0.85337	0.591000	0.81541	GGT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	C	NM_001081	-		16979734	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	SNP	0.999	T	T	16979734	C	T	16979734	3	4	229	1	0	0	0	0	1	0	0	0	4053	507	18	2	5204	2	CUBN	10	16979734	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	11438339	16979734	118555013	93	18481											
KIAA1217	56243	genome.wustl.edu	37	chr10	24833379	24833379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcccactgccctagagcCccctacgtcgataccttcag	8	17	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr10:24833379C>T	ENST00000376454.3	+	19	5210	c.5180C>T	c.(5179-5181)cCc>cTc	p.P1727L	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.P1410L|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1727					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						GCCCTAGAGCCCCCTACGTCG	0.502																																																	0								ENSG00000120549						65	65	65					10																	24833379		2203	4300	6503	KIAA1217	SO:0001583	missense	0			-	HGNC	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.5180C>T	10.37:g.24833379C>T	ENSP00000365637:p.Pro1727Leu	Somatic	0	27	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP							pfam_AIP3_C	p.P1727L	ENST00000376454.3	37	c.5180	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160565	0.57368	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000376451	T;T	0.30182	1.97;1.54	5.1	5.1	0.69264	.	0.385935	0.24046	N	0.042044	T	0.30541	0.0768	L	0.47716	1.5	0.80722	D	1	P;P;B	0.41848	0.763;0.763;0.019	B;B;B	0.37144	0.242;0.242;0.011	T	0.11372	-1.0590	10	0.48119	T	0.1	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	1410;1410;1727	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	L	1410;1727;1410	ENSP00000365637:P1727L;ENSP00000365634:P1410L	ENSP00000365634:P1410L	P	+	2	0	KIAA1217	24873385	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.373000	0.52394	2.376000	0.81061	0.655000	0.94253	CCC	-	NULL		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	C	NM_019590	-		24833379	1	no_errors	ENST00000376454	ensembl	human	known	74_37	missense	SNP	1.000	T	T	24833379	C	T	24833379	3	4	229	1	0	0	0	0	1	0	0	0	8218	623	22	2	5254	2	KIAA1217	10	24833379	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	7853645	24833379	110701368	94	18482											
GPR158	57512	genome.wustl.edu	37	chr10	25464562	25464562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgatggcaccatcttggcGcagaaactcgccgaggaggt	13	12	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr10:25464562G>A	ENST00000376351.3	+	1	572	c.213G>A	c.(211-213)gcG>gcA	p.A71A	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	71					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCATCTTGGCGCAGAAACTCG	0.682																																																	0								ENSG00000151025						25	26	26					10																	25464562		2200	4289	6489	GPR158	SO:0001819	synonymous_variant	0			-	HGNC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.213G>A	10.37:g.25464562G>A		Somatic	0	25	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	Q6QR81|Q9ULT3	Silent	SNP							pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A71	ENST00000376351.3	37	c.213	CCDS31166.1	10																																																																																			-	NULL		0.682	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	G	XM_166110	-		25464562	1	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	SNP	1.000	A	A	25464562	G	A	25464562	2	1	229	1	0	0	0	0	0	0	0	1	6665	1074	38	1		1	GPR158	10	25464562	Silent	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	631183	25464562	110070185	95	18483											
STOX1	219736	genome.wustl.edu	37	chr10	70641836	70641836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagtaacgcaggaatcaCttttggagcgtttgatgaaa	11	5	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr10:70641836C>A	ENST00000298596.6	+	2	516	c.433C>A	c.(433-435)Ctt>Att	p.L145I	STOX1_ENST00000399162.2_Missense_Mutation_p.L145I|STOX1_ENST00000421961.2_Missense_Mutation_p.L35I|STOX1_ENST00000399169.4_Missense_Mutation_p.L145I|STOX1_ENST00000399165.4_Missense_Mutation_p.L145I	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	145						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GCAGGAATCACTTTTGGAGCG	0.343																																																	0								ENSG00000165730						139	125	129					10																	70641836		1848	4093	5941	STOX1	SO:0001583	missense	0			-	HGNC	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.433C>A	10.37:g.70641836C>A	ENSP00000298596:p.Leu145Ile	Somatic	0	74	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP							pfam_Storkhead-box_winged-helix	p.L145I	ENST00000298596.6	37	c.433	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187495	0.38609	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.57	3.7	0.42460	Storkhead-box protein, winged-helix domain (1);	0.000000	0.56097	U	0.000036	T	0.81795	0.4898	L	0.52573	1.65	0.42532	D	0.993045	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	T	0.79955	-0.1585	10	0.38643	T	0.18	.	8.0455	0.30547	0.0:0.7327:0.0:0.2673	.	145;145;145	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	I	145;145;145;145;35	ENSP00000382121:L145I;ENSP00000298596:L145I;ENSP00000382118:L145I;ENSP00000382115:L145I;ENSP00000394509:L35I	ENSP00000298596:L145I	L	+	1	0	STOX1	70311842	0.520000	0.26250	0.071000	0.20095	0.870000	0.49936	1.153000	0.31676	1.494000	0.48533	0.591000	0.81541	CTT	-	pfam_Storkhead-box_winged-helix		0.343	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	protein_coding	OTTHUMT00000276849.3	C	NM_152709	-		70641836	1	no_errors	ENST00000298596	ensembl	human	known	74_37	missense	SNP	0.705	A	A	70641836	C	A	70641836	3	1	229	1	0	0	0	0	1	0	0	0	15326	565	20	3	439	3	STOX1	10	70641836	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	45177274	70641836	64892911	96	18484											
HECTD2	143279	genome.wustl.edu	37	chr10	93220291	93220291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccttccagaacctattcttCctatccagcccaaaactgtg	4	15	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr10:93220291C>A	ENST00000298068.5	+	3	470	c.376C>A	c.(376-378)Cct>Act	p.P126T	HECTD2_ENST00000371681.4_Missense_Mutation_p.P126T|HECTD2_ENST00000446394.1_Missense_Mutation_p.P126T|HECTD2_ENST00000536715.1_5'Flank	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	126					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACCTATTCTTCCTATCCAGCC	0.383																																					NSCLC(12;376 469 1699 39910 41417)												0								ENSG00000165338						123	111	115					10																	93220291		2203	4300	6503	HECTD2	SO:0001583	missense	0			-	HGNC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.376C>A	10.37:g.93220291C>A	ENSP00000298068:p.Pro126Thr	Somatic	0	52	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.P126T	ENST00000298068.5	37	c.376	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334802	0.60853	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.61158	1.13;0.13;1.14	5.39	4.49	0.54785	.	0.116946	0.64402	D	0.000014	T	0.67468	0.2896	L	0.59436	1.845	0.80722	D	1	P;P;D	0.71674	0.931;0.931;0.998	P;P;D	0.66351	0.522;0.522;0.943	T	0.63708	-0.6576	10	0.14656	T	0.56	.	13.5118	0.61517	0.0:0.9237:0.0:0.0763	.	126;126;126	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	T	126	ENSP00000401023:P126T;ENSP00000360746:P126T;ENSP00000298068:P126T	ENSP00000298068:P126T	P	+	1	0	HECTD2	93210271	1.000000	0.71417	0.429000	0.26710	0.704000	0.40688	3.837000	0.55820	1.253000	0.44018	0.563000	0.77884	CCT	-	NULL		0.383	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	protein_coding	OTTHUMT00000098620.1	C		-		93220291	1	no_errors	ENST00000446394	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93220291	C	A	93220291	3	1	229	1	0	0	0	0	1	0	0	0	7042	855	30	3	386	3	HECTD2	10	93220291	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	22578455	93220291	42314456	97	18485											
OR51F1	256892	genome.wustl.edu	37	chr11	4790530	4790530	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtatctattccagtggtcagGatgagatcaattaatccaca	8	8	3	1	rs148379006		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:4790530G>T	ENST00000380383.1	-	1	638	c.639C>A	c.(637-639)atC>atA	p.I213I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.I206I			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGGTCAGGATGAGATCAA	0.413																																																	0								ENSG00000188069						153	147	149					11																	4790530		2201	4298	6499	OR51F1	SO:0001819	synonymous_variant	0			-	HGNC	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.639C>A	11.37:g.4790530G>T		Somatic	0	46	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54		Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I213	ENST00000380383.1	37	c.639		11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	protein_coding		G	NM_001004752	-		4790530	-1	no_errors	ENST00000380383	ensembl	human	known	74_37	silent	SNP	0.000	T	T	4790530	G	T	4790530	2	4	229	1	0	0	0	0	0	0	0	1	11098	1164	41	3		3	OR51F1	11	4790530	Silent	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09		4790530	130215986	98	18486											
OR4A5	81318	genome.wustl.edu	37	chr11	51412103	51412103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatggtctataaatagcTggcccatgcaaccttggaag	10	8	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:51412103T>G	ENST00000319760.6	-	1	345	c.293A>C	c.(292-294)cAg>cCg	p.Q98P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATAAATAGCTGGCCCATGCA	0.433																																																	0								ENSG00000221840						65	67	66					11																	51412103		2201	4296	6497	OR4A5	SO:0001583	missense	0			-	HGNC	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.293A>C	11.37:g.51412103T>G	ENSP00000367664:p.Gln98Pro	Somatic	0	61	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	Q6IF84	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q98P	ENST00000319760.6	37	c.293	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433290	0.25813	.	.	ENSG00000221840	ENST00000319760	T	0.01240	5.12	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000391	T	0.15392	0.0371	H	0.99794	4.785	0.36724	D	0.881348	D	0.69078	0.997	D	0.68483	0.958	T	0.21042	-1.0257	10	0.72032	D	0.01	.	7.8263	0.29318	0.0:0.0:0.0:1.0	.	98	Q8NH83	OR4A5_HUMAN	P	98	ENSP00000367664:Q98P	ENSP00000367664:Q98P	Q	-	2	0	OR4A5	51268679	1.000000	0.71417	0.160000	0.22671	0.015000	0.08874	6.676000	0.74498	1.143000	0.42306	0.136000	0.15936	CAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	protein_coding	OTTHUMT00000391399.1	T	NM_001005272	-		51412103	-1	no_errors	ENST00000319760	ensembl	human	known	74_37	missense	SNP	0.985	G	G	51412103	T	G	51412103	3	3	229	1	0	0	0	0	1	0	0	0	11045	1580	55	5	658	5	OR4A5	11	51412103	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	46621573	51412103	83594413	99	18487											
OR5AK2	390181	genome.wustl.edu	37	chr11	56757027	56757027	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatattcactgggttggtCgtcatcttttcctacatcta	7	9	4	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:56757027C>T	ENST00000326855.2	+	1	681	c.639C>T	c.(637-639)gtC>gtT	p.V213V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTGGGTTGGTCGTCATCTTTT	0.433																																																	0								ENSG00000181273						232	207	215					11																	56757027		2201	4296	6497	OR5AK2	SO:0001819	synonymous_variant	0			-	HGNC	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.639C>T	11.37:g.56757027C>T		Somatic	0	95	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	40	42.03	B2RNZ9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V213	ENST00000326855.2	37	c.639	CCDS31538.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	protein_coding	OTTHUMT00000392446.1	C	NM_001005323	-		56757027	1	no_errors	ENST00000326855	ensembl	human	known	74_37	silent	SNP	0.000	T	T	56757027	C	T	56757027	2	4	229	1	0	0	0	0	0	0	0	1	11144	871	31	1		1	OR5AK2	11	56757027	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	5344924	56757027	78249489	100	18488											
DTX4	23220	genome.wustl.edu	37	chr11	58956718	58956718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcctacacccaccccccGtcagcaagagtgaaataaaa	7	14	1	2	rs376061897		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:58956718G>A	ENST00000227451.3	+	4	1185	c.1081G>A	c.(1081-1083)Gtc>Atc	p.V361I	DTX4_ENST00000532982.1_Missense_Mutation_p.V255I|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	361					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)				CCCACCCCCCGTCAGCAAGAG	0.562																																																	0								ENSG00000110042	G	ILE/VAL	0,3768		0,0,1884	38	45	43		1081	5.6	1	11		43	1,8225		0,1,4112	no	missense	DTX4	NM_015177.1	29	0,1,5996	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging	361/620	58956718	1,11993	1884	4113	5997	DTX4	SO:0001583	missense	0			-	HGNC	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.1081G>A	11.37:g.58956718G>A	ENSP00000227451:p.Val361Ile	Somatic	0	55	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96	Q0VF38	Missense_Mutation	SNP							pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.V361I	ENST00000227451.3	37	c.1081	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910833	0.72983	0.0	1.22E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12672	2.66;2.86	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.38838	1.175	0.58432	D	0.999992	P	0.37688	0.605	B	0.21151	0.033	T	0.10154	-1.0642	10	0.33141	T	0.24	.	18.4066	0.90538	0.0:0.0:1.0:0.0	.	361	Q9Y2E6	DTX4_HUMAN	I	255;361	ENSP00000434055:V255I;ENSP00000227451:V361I	ENSP00000227451:V361I	V	+	1	0	DTX4	58713294	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.642000	0.67888	2.634000	0.89283	0.563000	0.77884	GTC	-	NULL		0.562	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	protein_coding	OTTHUMT00000394228.1	G	XM_166213	-		58956718	1	no_errors	ENST00000227451	ensembl	human	known	74_37	missense	SNP	0.999	A	A	58956718	G	A	58956718	3	1	229	1	0	0	0	0	1	0	0	0	4799	1145	40	1	1095	1	DTX4	11	58956718	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	2199691	58956718	76049798	101	18489											
AHNAK	79026	genome.wustl.edu	37	chr11	62297347	62297347	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgctgaacttgggcatTtttaccttgggcatcttcag	11	9	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:62297347T>A	ENST00000378024.4	-	5	4816	c.4542A>T	c.(4540-4542)aaA>aaT	p.K1514N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1514					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTGGGCATTTTTACCTTGG	0.512																																																	0								ENSG00000124942						200	213	208					11																	62297347		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4542A>T	11.37:g.62297347T>A	ENSP00000367263:p.Lys1514Asn	Somatic	0	134	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	69	23.33	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1514N	ENST00000378024.4	37	c.4542	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	t	16.16	3.044840	0.55110	.	.	ENSG00000124942	ENST00000378024	T	0.00691	5.84	4.34	0.545	0.17190	.	0.149674	0.44285	D	0.000480	T	0.03263	0.0095	M	0.82923	2.615	0.34895	D	0.745963	D	0.65815	0.995	D	0.78314	0.991	T	0.44922	-0.9296	10	0.27785	T	0.31	.	9.0406	0.36316	0.0:0.43:0.0:0.57	.	1514	Q09666	AHNK_HUMAN	N	1514	ENSP00000367263:K1514N	ENSP00000367263:K1514N	K	-	3	2	AHNAK	62053923	0.018000	0.18449	0.965000	0.40720	0.929000	0.56500	-0.162000	0.10012	0.109000	0.17891	0.370000	0.22315	AAA	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	T	NM_024060	-		62297347	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	0.993	A	A	62297347	T	A	62297347	3	1	229	1	0	0	0	0	1	0	0	0	414	1838	64	5	13250	5	AHNAK	11	62297347	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	3340629	62297347	72709169	102	18490											
P2RY6	5031	genome.wustl.edu	37	chr11	73008055	73008055	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagtgcctgcccacagccatCttcgctgccacaggcatcca	8	18	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:73008055C>G	ENST00000393590.2	+	2	791	c.492C>G	c.(490-492)atC>atG	p.I164M	P2RY6_ENST00000540124.1_Missense_Mutation_p.I164M|P2RY6_ENST00000349767.2_Missense_Mutation_p.I164M|P2RY6_ENST00000393592.2_Missense_Mutation_p.I164M|P2RY6_ENST00000538328.1_Missense_Mutation_p.I164M|P2RY6_ENST00000540342.1_Missense_Mutation_p.I164M|P2RY6_ENST00000542092.1_Missense_Mutation_p.I164M|P2RY6_ENST00000393591.1_Missense_Mutation_p.I164M	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	164					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CCACAGCCATCTTCGCTGCCA	0.657																																																	0								ENSG00000171631						57	47	51					11																	73008055		2195	4289	6484	P2RY6	SO:0001583	missense	0			-	HGNC		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.492C>G	11.37:g.73008055C>G	ENSP00000377215:p.Ile164Met	Somatic	0	48	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	Q15754	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt	p.I164M	ENST00000393590.2	37	c.492	CCDS8220.1	11	.	.	.	.	.	.	.	.	.	.	C	6.317	0.426626	0.11987	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	4.42	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	1.017110	0.07853	N	0.965029	T	0.61311	0.2337	L	0.32530	0.975	0.09310	N	1	B	0.21520	0.057	B	0.27170	0.077	T	0.51911	-0.8645	10	0.41790	T	0.15	.	8.4722	0.32993	0.3114:0.5378:0.1508:0.0	.	164	Q15077	P2RY6_HUMAN	M	164	ENSP00000443427:I164M;ENSP00000445652:I164M;ENSP00000309771:I164M;ENSP00000377217:I164M;ENSP00000377216:I164M;ENSP00000442551:I164M;ENSP00000377215:I164M;ENSP00000440770:I164M;ENSP00000442990:I164M	ENSP00000309771:I164M	I	+	3	3	P2RY6	72685703	0.998000	0.40836	0.700000	0.30305	0.534000	0.34807	1.670000	0.37502	0.549000	0.28973	0.491000	0.48974	ATC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.657	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	P2RY6	protein_coding	OTTHUMT00000397349.1	C		-		73008055	1	no_errors	ENST00000349767	ensembl	human	known	74_37	missense	SNP	0.220	G	G	73008055	C	G	73008055	3	3	229	1	0	0	0	0	1	0	0	0	11356	903	32	4	494	4	P2RY6	11	73008055	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	10710708	73008055	61998461	103	18491											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103091433	103091433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctcactacgcatgccaCctgatgtaattagagatatt	7	10	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:103091433C>T	ENST00000375735.2	+	57	9172	c.9028C>T	c.(9028-9030)Cct>Tct	p.P3010S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P3010S|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	3010	Stalk. {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)		ACGCATGCCACCTGATGTAAT	0.373																																																	0								ENSG00000187240						96	94	94					11																	103091433		1880	4118	5998	DYNC2H1	SO:0001583	missense	0			-	HGNC	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.9028C>T	11.37:g.103091433C>T	ENSP00000364887:p.Pro3010Ser	Somatic	0	62	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3010S	ENST00000375735.2	37	c.9028	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.269626	0.95429	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.81739	-1.53;-1.53	6.17	6.17	0.99709	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92735	0.6203	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	3010;3010	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	3010	ENSP00000364887:P3010S;ENSP00000381167:P3010S	ENSP00000364887:P3010S	P	+	1	0	DYNC2H1	102596643	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCT	-	NULL		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	C	XM_370652	-		103091433	1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103091433	C	T	103091433	3	4	229	1	0	0	0	0	1	0	0	0	4848	507	18	2	9254	2	DYNC2H1	11	103091433	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	30083378	103091433	31915083	104	18492											
ACAT1	38	genome.wustl.edu	37	chr11	108010820	108010820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagaatacagcaaagaAgctgaatattgcacgaaatg	10	6	0	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:108010820A>G	ENST00000265838.4	+	7	699	c.608A>G	c.(607-609)aAg>aGg	p.K203R		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	203					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)	ACAGCAAAGAAGCTGAATATT	0.328																																																	0								ENSG00000075239						58	60	59					11																	108010820		2201	4298	6499	ACAT1	SO:0001583	missense	0			-	HGNC	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.608A>G	11.37:g.108010820A>G	ENSP00000265838:p.Lys203Arg	Somatic	0	42	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP							pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.K203R	ENST00000265838.4	37	c.608	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825416	0.71143	.	.	ENSG00000075239	ENST00000265838	D	0.90732	-2.72	5.99	5.99	0.97316	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.233912	0.49916	D	0.000127	D	0.88976	0.6584	L	0.49513	1.565	0.80722	D	1	B	0.18310	0.027	B	0.22880	0.042	D	0.85545	0.1218	10	0.66056	D	0.02	-22.4512	16.4943	0.84223	1.0:0.0:0.0:0.0	.	203	P24752	THIL_HUMAN	R	203	ENSP00000265838:K203R	ENSP00000265838:K203R	K	+	2	0	ACAT1	107516030	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.979000	0.76154	2.291000	0.77112	0.533000	0.62120	AAG	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.328	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	protein_coding	OTTHUMT00000389474.1	A	NM_000019	-		108010820	1	no_errors	ENST00000265838	ensembl	human	known	74_37	missense	SNP	1.000	G	G	108010820	A	G	108010820	3	3	229	1	0	0	0	0	1	0	0	0	121	72	3	5	634	5	ACAT1	11	108010820	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	4919387	108010820	26995696	105	18493											
FAM55D	54827	genome.wustl.edu	37	chr11	114452463	114452463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactgttgcatttggagacActaattgtattgaatttttc	7	5	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:114452463A>G	ENST00000375478.3	-	4	1056	c.876T>C	c.(874-876)agT>agC	p.S292S	NXPE4_ENST00000424261.2_Silent_p.S8S	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	292						extracellular vesicular exosome (GO:0070062)											ATTTGGAGACACTAATTGTAT	0.378																																																	0								ENSG00000137634						131	126	127					11																	114452463		1883	4106	5989	NXPE4	SO:0001819	synonymous_variant	0			-	HGNC	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.876T>C	11.37:g.114452463A>G		Somatic	0	33	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	Q6QDB4|Q9NXP5	Silent	SNP							pfam_NXPH/NXPE,superfamily_Ig_E-set	p.S292	ENST00000375478.3	37	c.876	CCDS41718.1	11																																																																																			-	NULL		0.378	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NXPE4	protein_coding	OTTHUMT00000399179.1	A	NM_017678	-		114452463	-1	no_errors	ENST00000375478	ensembl	human	known	74_37	silent	SNP	0.007	G	G	114452463	A	G	114452463	2	3	229	1	0	0	0	0	0	0	0	1	5589	156	6	5		5	FAM55D	11	114452463	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	6441643	114452463	20554053	106	18494											
OR8D1	283159	genome.wustl.edu	37	chr11	124180308	124180308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacatagcgatcatatgCcatggcagtcaggaggtaac	12	9	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:124180308C>A	ENST00000357821.2	-	1	425	c.355G>T	c.(355-357)Gca>Tca	p.A119S		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CGATCATATGCCATGGCAGTC	0.488																																																	0								ENSG00000196341						81	73	76					11																	124180308		2201	4299	6500	OR8D1	SO:0001583	missense	0			-	HGNC	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.355G>T	11.37:g.124180308C>A	ENSP00000350474:p.Ala119Ser	Somatic	0	61	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	0	100.00	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A119S	ENST00000357821.2	37	c.355	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442679	0.63067	.	.	ENSG00000196341	ENST00000357821	T	0.39787	1.06	4.29	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	U	0.002449	T	0.52933	0.1765	L	0.49350	1.555	0.38465	D	0.947327	D	0.71674	0.998	P	0.62184	0.899	T	0.60464	-0.7258	10	0.72032	D	0.01	.	12.4664	0.55762	0.2749:0.7251:0.0:0.0	.	119	Q8WZ84	OR8D1_HUMAN	S	119	ENSP00000350474:A119S	ENSP00000350474:A119S	A	-	1	0	OR8D1	123685518	1.000000	0.71417	0.892000	0.35008	0.077000	0.17291	1.993000	0.40747	2.236000	0.73375	0.508000	0.49915	GCA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	protein_coding	OTTHUMT00000387285.1	C	NM_001002917	-		124180308	-1	no_errors	ENST00000357821	ensembl	human	known	74_37	missense	SNP	1.000	A	A	124180308	C	A	124180308	3	1	229	1	0	0	0	0	1	0	0	0	11233	739	26	3	574	3	OR8D1	11	124180308	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	9727845	124180308	10826208	107	18495											
C11orf61	79684	genome.wustl.edu	37	chr11	124670195	124670195	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccgtcgctcaggccaccagGagaagccggggaaagcacct	13	14	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr11:124670195G>C	ENST00000374979.3	-	1	90	c.82C>G	c.(82-84)Cct>Gct	p.P28A	MSANTD2_ENST00000239614.4_Missense_Mutation_p.P28A|MSANTD2_ENST00000524950.1_Missense_Mutation_p.P28A|RP11-677M14.7_ENST00000529392.1_RNA|RP11-677M14.7_ENST00000499143.2_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	28																	AGGCCACCAGGAGAAGCCGGG	0.697																																																	0								ENSG00000120458						10	12	11					11																	124670195		2127	4186	6313	MSANTD2	SO:0001583	missense	0			-	HGNC	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 61"	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.82C>G	11.37:g.124670195G>C	ENSP00000364118:p.Pro28Ala	Somatic	0	83	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP							NULL	p.P28A	ENST00000374979.3	37	c.82		11	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570086	0.45798	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000524950	.	.	.	4.52	4.52	0.55395	.	0.000000	0.50627	D	0.000119	T	0.46776	0.1410	L	0.36672	1.1	0.38710	D	0.953197	B;B	0.32101	0.243;0.356	B;B	0.30401	0.037;0.115	T	0.56074	-0.8039	9	0.66056	D	0.02	-5.2324	11.8429	0.52366	0.0885:0.0:0.9115:0.0	.	28;28	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	A	28	.	ENSP00000239614:P28A	P	-	1	0	C11orf61	124175405	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.175000	0.65021	2.067000	0.61834	0.462000	0.41574	CCT	-	NULL		0.697	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	protein_coding	OTTHUMT00000387084.1	G	NM_024631	-		124670195	-1	no_errors	ENST00000374979	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124670195	G	C	124670195	3	2	229	1	0	0	0	0	1	0	0	0	1655	1174	41	4	1457	4	C11orf61	11	124670195	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	489887	124670195	10336321	108	18496											
BCL2L14	79370	genome.wustl.edu	37	chr12	12232253	12232253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaacatgtgtagcaccaGtgggtgtgacctggaagaaa	13	9	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr12:12232253G>T	ENST00000308721.5	+	2	220	c.14G>T	c.(13-15)aGt>aTt	p.S5I	BCL2L14_ENST00000266434.4_Missense_Mutation_p.S5I|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S5I|BCL2L14_ENST00000396367.1_Missense_Mutation_p.S5I|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S38I|BCL2L14_ENST00000589718.1_Missense_Mutation_p.S5I	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	5					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGTAGCACCAGTGGGTGTGAC	0.483																																																	0								ENSG00000121380						142	127	132					12																	12232253		2203	4300	6503	BCL2L14	SO:0001583	missense	0			-	HGNC	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.14G>T	12.37:g.12232253G>T	ENSP00000309132:p.Ser5Ile	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP							pfscan_Bcl2-like	p.S5I	ENST00000308721.5	37	c.14	CCDS8645.1	12	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518151	0.44763	.	.	ENSG00000121380	ENST00000464885;ENST00000461264;ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	4.11	4.11	0.48088	.	0.398924	0.24568	N	0.037404	T	0.66376	0.2783	M	0.73962	2.25	0.29896	N	0.8248	D;D	0.89917	0.999;1.0	D;D	0.87578	0.976;0.998	T	0.65018	-0.6270	9	0.87932	D	0	-6.0632	12.1533	0.54062	0.0:0.0:1.0:0.0	.	5;5	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	I	5;8;5;5;5;5	.	ENSP00000266434:S5I	S	+	2	0	BCL2L14	12123520	0.604000	0.26932	0.719000	0.30619	0.302000	0.27658	1.783000	0.38664	2.590000	0.87494	0.563000	0.77884	AGT	-	NULL		0.483	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L14	protein_coding	OTTHUMT00000355994.3	G	NM_030766	-		12232253	1	no_errors	ENST00000308721	ensembl	human	known	74_37	missense	SNP	0.729	T	T	12232253	G	T	12232253	3	4	229	1	0	0	0	0	1	0	0	0	1372	1029	36	3	16	3	BCL2L14	12	12232253	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09		12232253	121619642	109	18497											
RPAP3	79657	genome.wustl.edu	37	chr12	48063978	48063978	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggtcatcttggcttgAattcttcttacttgtggtgc	9	7	4	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr12:48063978A>C	ENST00000005386.3	-	13	1553	c.1438T>G	c.(1438-1440)Tca>Gca	p.S480A	RPAP3_ENST00000432584.3_Missense_Mutation_p.S321A|RPAP3_ENST00000380650.4_Missense_Mutation_p.S446A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	480										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCTTGGCTTGAATTCTTCTTA	0.398																																																	0								ENSG00000005175						196	186	189					12																	48063978		2203	4300	6503	RPAP3	SO:0001583	missense	0			-	HGNC	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1438T>G	12.37:g.48063978A>C	ENSP00000005386:p.Ser480Ala	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B4DRW9|Q6PHR5	Missense_Mutation	SNP							pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S480A	ENST00000005386.3	37	c.1438	CCDS8753.1	12	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436385	0.25813	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.14516	2.93;2.5;2.92	5.84	0.764	0.18465	.	1.601630	0.02826	N	0.126160	T	0.10294	0.0252	L	0.36672	1.1	0.09310	N	1	B;B	0.14805	0.011;0.007	B;B	0.15052	0.012;0.005	T	0.27365	-1.0076	10	0.08179	T	0.78	.	4.0611	0.09839	0.4763:0.0:0.3672:0.1565	.	446;480	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	A	480;321;446	ENSP00000005386:S480A;ENSP00000401823:S321A;ENSP00000370024:S446A	ENSP00000005386:S480A	S	-	1	0	RPAP3	46350245	0.909000	0.30893	0.034000	0.17996	0.791000	0.44710	0.871000	0.28023	0.104000	0.17725	0.455000	0.32223	TCA	-	NULL		0.398	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	protein_coding	OTTHUMT00000405340.1	A	NM_024604	-		48063978	-1	no_errors	ENST00000005386	ensembl	human	known	74_37	missense	SNP	0.055	C	C	48063978	A	C	48063978	3	2	229	1	0	0	0	0	1	0	0	0	13551	246	9	5	579	5	RPAP3	12	48063978	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	35831725	48063978	85787917	110	18498											
TMBIM6	7009	genome.wustl.edu	37	chr12	50156676	50156676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataagaagaaagagaagaaAtgaagtgaccatccagcctt	10	6	0	6			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr12:50156676A>G	ENST00000267115.5	+	10	796	c.711A>G	c.(709-711)aaA>aaG	p.K237K	TMBIM6_ENST00000395006.4_Silent_p.K237K|TMBIM6_ENST00000552699.1_Silent_p.K295K|TMBIM6_ENST00000423828.1_Silent_p.K295K|TMBIM6_ENST00000547798.1_Silent_p.K200K|TMBIM6_ENST00000549385.1_Silent_p.K237K	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	237					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAGAGAAGAAATGAAGTGACC	0.368											OREG0021802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139644						139	151	147					12																	50156676		2203	4300	6503	TMBIM6	SO:0001819	synonymous_variant	0			-	HGNC	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"BAX inhibitor 1"	600748	"testis enhanced gene transcript"	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.711A>G	12.37:g.50156676A>G		Somatic	0	73	0	967	0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	B2R5M4|F8W034|O14938|Q643A7|Q96J50	Silent	SNP							pfam_Bax_inhibitor_1-related	p.K295	ENST00000267115.5	37	c.885	CCDS31797.1	12																																																																																			-	NULL		0.368	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMBIM6	protein_coding	OTTHUMT00000405289.1	A	NM_003217	-		50156676	1	no_errors	ENST00000423828	ensembl	human	known	74_37	silent	SNP	1.000	G	G	50156676	A	G	50156676	2	3	229	1	0	0	0	0	0	0	0	1	15990	98	4	5		5	TMBIM6	12	50156676	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	2092698	50156676	83695219	111	18499											
IL26	55801	genome.wustl.edu	37	chr12	68618939	68618939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatacttacacagtggctcAatttctgcctaaggctatga	8	9	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr12:68618939A>C	ENST00000229134.4	-	3	417	c.353T>G	c.(352-354)tTg>tGg	p.L118W	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	118					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ACAGTGGCTCAATTTCTGCCT	0.418																																																	0								ENSG00000111536						96	89	91					12																	68618939		2203	4300	6503	IL26	SO:0001583	missense	0			-	HGNC	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"Interleukins and interleukin receptors"	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.353T>G	12.37:g.68618939A>C	ENSP00000229134:p.Leu118Trp	Somatic	0	42	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00		Missense_Mutation	SNP							pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core	p.L118W	ENST00000229134.4	37	c.353	CCDS8981.1	12	.	.	.	.	.	.	.	.	.	.	A	9.264	1.043936	0.19748	.	.	ENSG00000111536	ENST00000229134	D	0.87334	-2.24	5.19	1.15	0.20763	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.719989	0.12032	N	0.505858	D	0.82332	0.5014	L	0.55481	1.735	0.09310	N	1	B	0.28552	0.215	B	0.33196	0.159	T	0.68435	-0.5409	9	.	.	.	-13.4042	5.7806	0.18304	0.5895:0.3225:0.088:0.0	.	118	Q9NPH9	IL26_HUMAN	W	118	ENSP00000229134:L118W	.	L	-	2	0	IL26	66905206	0.237000	0.23815	0.016000	0.15963	0.017000	0.09413	0.826000	0.27407	0.014000	0.14944	0.443000	0.29094	TTG	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core		0.418	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL26	protein_coding	OTTHUMT00000402302.1	A	NM_018402	-		68618939	-1	no_errors	ENST00000229134	ensembl	human	known	74_37	missense	SNP	0.056	C	C	68618939	A	C	68618939	3	2	229	1	0	0	0	0	1	0	0	0	7681	131	5	5	174	5	IL26	12	68618939	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	18462263	68618939	65232956	112	18500											
SYCP3	50511	genome.wustl.edu	37	chr12	102122971	102122971	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtaagtagattatcatgattCttctccaactcttccatact	4	10	4	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr12:102122971C>G	ENST00000392927.3	-	8	704	c.573G>C	c.(571-573)aaG>aaC	p.K191N	SYCP3_ENST00000392924.1_Missense_Mutation_p.K191N|SYCP3_ENST00000266743.2_Missense_Mutation_p.K191N	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	191	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TATCATGATTCTTCTCCAACT	0.294																																																	0								ENSG00000139351						71	74	73					12																	102122971		2198	4286	6484	SYCP3	SO:0001583	missense	0			-	HGNC	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.573G>C	12.37:g.102122971C>G	ENSP00000376658:p.Lys191Asn	Somatic	0	32	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25		Missense_Mutation	SNP							pfam_Cor1/Xlr/Xmr	p.K191N	ENST00000392927.3	37	c.573	CCDS9087.1	12	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301478	0.60195	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.65	3.8	0.43715	.	0.120460	0.56097	D	0.000033	T	0.78266	0.4256	M	0.83953	2.67	0.42698	D	0.9936	D	0.76494	0.999	D	0.75020	0.985	T	0.80407	-0.1395	9	0.54805	T	0.06	-6.5188	12.816	0.57665	0.0:0.881:0.0:0.119	.	191	Q8IZU3	SYCP3_HUMAN	N	191	.	ENSP00000266743:K191N	K	-	3	2	SYCP3	100647102	0.148000	0.22702	0.939000	0.37840	0.755000	0.42902	-0.034000	0.12225	2.663000	0.90544	0.455000	0.32223	AAG	-	pfam_Cor1/Xlr/Xmr		0.294	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	protein_coding	OTTHUMT00000316478.2	C	NM_153694	-		102122971	-1	no_errors	ENST00000266743	ensembl	human	known	74_37	missense	SNP	0.982	G	G	102122971	C	G	102122971	3	3	229	1	0	0	0	0	1	0	0	0	15441	912	32	4	145	4	SYCP3	12	102122971	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	33504032	102122971	31728924	113	18501											
MTUS2	23281	genome.wustl.edu	37	chr13	29933578	29933578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcggctttgatgccCtcgccgtggccacgcagcat	11	16	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr13:29933578C>A	ENST00000431530.3	+	6	3173	c.3115C>A	c.(3115-3117)Ctc>Atc	p.L1039I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1029	Localization to the growing distal tip of microtubules.					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						CTTTGATGCCCTCGCCGTGGC	0.597																																																	0								ENSG00000132938						20	24	23					13																	29933578		2085	4205	6290	MTUS2	SO:0001583	missense	0			-	HGNC	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.3115C>A	13.37:g.29933578C>A	ENSP00000392057:p.Leu1039Ile	Somatic	0	70	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	49	31.94	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP							NULL	p.L1039I	ENST00000431530.3	37	c.3115	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	C	7.095	0.572934	0.13623	.	.	ENSG00000132938	ENST00000431530	T	0.18338	2.22	4.91	-0.344	0.12628	.	0.322570	0.29133	N	0.013047	T	0.07413	0.0187	N	0.22421	0.69	0.21147	N	0.999778	P	0.40180	0.705	B	0.37422	0.249	T	0.17930	-1.0353	9	.	.	.	.	0.6689	0.00855	0.1677:0.3133:0.1646:0.3543	.	1029	Q5JR59	MTUS2_HUMAN	I	1039	ENSP00000392057:L1039I	.	L	+	1	0	MTUS2	28831578	0.063000	0.20901	0.000000	0.03702	0.114000	0.19823	0.352000	0.20113	0.004000	0.14682	0.591000	0.81541	CTC	-	NULL		0.597	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	C	XM_166270	-		29933578	1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	SNP	0.001	A	A	29933578	C	A	29933578	3	1	229	1	0	0	0	0	1	0	0	0	9968	681	24	3	3137	3	MTUS2	13	29933578	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		29933578	85236300	114	18502											
DIAPH3	81624	genome.wustl.edu	37	chr13	60566234	60566234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaatatcttcaaggcgatgGgataactcaaacaaatcttc	6	9	4	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr13:60566234G>A	ENST00000400324.4	-	11	1432	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	DIAPH3_ENST00000377908.2_Silent_p.S393S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.S404S|DIAPH3_ENST00000400319.1_Silent_p.S334S|DIAPH3_ENST00000400320.1_Silent_p.S358S|DIAPH3_ENST00000400330.1_Silent_p.S404S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	404	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAGGCGATGGGATAACTCAA	0.313																																																	0								ENSG00000139734						86	82	83					13																	60566234		1815	4074	5889	DIAPH3	SO:0001819	synonymous_variant	0			-	HGNC	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1212C>T	13.37:g.60566234G>A		Somatic	0	77	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.S404	ENST00000400324.4	37	c.1212	CCDS41898.1	13																																																																																			-	pfam_FH3_dom,superfamily_ARM-type_fold		0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	protein_coding	OTTHUMT00000045166.3	G	NM_001042517	-		60566234	-1	no_errors	ENST00000400324	ensembl	human	known	74_37	silent	SNP	0.952	A	A	60566234	G	A	60566234	2	1	229	1	0	0	0	0	0	0	0	1	4522	1219	43	2		2	DIAPH3	13	60566234	Silent	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	30632656	60566234	54603644	115	18503											
NYNRIN	57523	genome.wustl.edu	37	chr14	24884111	24884111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccctgatggggccctGgacatcgacctcctgccagg	12	16	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:24884111G>A	ENST00000382554.3	+	9	3474	c.3156G>A	c.(3154-3156)ctG>ctA	p.L1052L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1052					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATGGGGCCCTGGACATCGACC	0.642																																																	0								ENSG00000205978						79	95	89					14																	24884111		2068	4198	6266	NYNRIN	SO:0001819	synonymous_variant	0			-	HGNC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3156G>A	14.37:g.24884111G>A		Somatic	0	39	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q6P153|Q86TR3|Q9HAC4	Silent	SNP							pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.L1052	ENST00000382554.3	37	c.3156	CCDS45090.1	14																																																																																			-	NULL		0.642	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	protein_coding	OTTHUMT00000412939.1	G		-		24884111	1	no_errors	ENST00000382554	ensembl	human	known	74_37	silent	SNP	0.107	A	A	24884111	G	A	24884111	2	1	229	1	0	0	0	0	0	0	0	1	10798	1335	47	2		2	NYNRIN	14	24884111	Silent	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09		24884111	82465429	116	18504											
C14orf126	112487	genome.wustl.edu	37	chr14	31917348	31917348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcattttcaaaactcaattAagtgtgtgaatggtccgttg	8	6	3	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:31917348A>G	ENST00000310850.4	-	3	610	c.494T>C	c.(493-495)tTa>tCa	p.L165S	DTD2_ENST00000356180.4_Missense_Mutation_p.L165S|RP11-176H8.1_ENST00000547378.1_Intron|CTD-2213F21.2_ENST00000502430.2_RNA	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	165					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										AAACTCAATTAAGTGTGTGAA	0.368																																																	0								ENSG00000129480						162	161	161					14																	31917348		2203	4300	6503	DTD2	SO:0001583	missense	0			-	HGNC	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 126"	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.494T>C	14.37:g.31917348A>G	ENSP00000312224:p.Leu165Ser	Somatic	0	64	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	D3DS87	Missense_Mutation	SNP							pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom	p.L165S	ENST00000310850.4	37	c.494	CCDS9643.1	14	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593589	0.86953	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.51325	0.71;0.71	6.04	6.04	0.98038	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.76574	2.34	0.53688	D	0.999974	D	0.56746	0.977	P	0.56088	0.791	T	0.69011	-0.5258	10	0.87932	D	0	-9.6818	16.5885	0.84745	1.0:0.0:0.0:0.0	.	165	Q96FN9	DTD2_HUMAN	S	165	ENSP00000312224:L165S;ENSP00000348503:L165S	ENSP00000312224:L165S	L	-	2	0	C14orf126	30987099	1.000000	0.71417	0.839000	0.33178	0.987000	0.75469	8.538000	0.90634	2.317000	0.78254	0.460000	0.39030	TTA	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom		0.368	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD2	protein_coding	OTTHUMT00000276614.2	A	NM_080664	-		31917348	-1	no_errors	ENST00000310850	ensembl	human	known	74_37	missense	SNP	0.923	G	G	31917348	A	G	31917348	3	3	229	1	0	0	0	0	1	0	0	0	1745	372	13	5	16	5	C14orf126	14	31917348	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	7033237	31917348	75432192	117	18505											
BAZ1A	11177	genome.wustl.edu	37	chr14	35233923	35233923	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	taggacttacctgacttcttCctcttcttgagagtcatctt	6	11	5	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:35233923C>G	ENST00000382422.2	-	22	4093	c.3766G>C	c.(3766-3768)Gaa>Caa	p.E1256Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.E1224Q|BAZ1A_ENST00000360310.1_Missense_Mutation_p.E1256Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1256	Glu-rich.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTGActtcttcctcttcttga	0.398																																																	0								ENSG00000198604						188	145	160					14																	35233923		2203	4300	6503	BAZ1A	SO:0001583	missense	0			-	HGNC	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3766G>C	14.37:g.35233923C>G	ENSP00000371859:p.Glu1256Gln	Somatic	0	38	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	12	61.29	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP							pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1256Q	ENST00000382422.2	37	c.3766	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481727	0.44147	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.52983	0.64;0.64;0.64	5.43	5.43	0.79202	.	0.508531	0.21036	N	0.081246	T	0.48978	0.1530	L	0.32530	0.975	0.51767	D	0.999933	P;P	0.46512	0.879;0.808	P;B	0.48677	0.586;0.382	T	0.49916	-0.8888	10	0.59425	D	0.04	.	17.0368	0.86478	0.0:1.0:0.0:0.0	.	1224;1256	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	1224;1256;1256;908	ENSP00000351555:E1224Q;ENSP00000371859:E1256Q;ENSP00000353458:E1256Q	ENSP00000351555:E1224Q	E	-	1	0	BAZ1A	34303674	0.999000	0.42202	0.982000	0.44146	0.660000	0.38997	3.840000	0.55843	2.558000	0.86282	0.563000	0.77884	GAA	-	NULL		0.398	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	protein_coding	OTTHUMT00000276646.1	C		-		35233923	-1	no_errors	ENST00000360310	ensembl	human	known	74_37	missense	SNP	1.000	G	G	35233923	C	G	35233923	3	3	229	1	0	0	0	0	1	0	0	0	1329	864	30	4	924	4	BAZ1A	14	35233923	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	3316575	35233923	72115617	118	18506											
FSCB	84075	genome.wustl.edu	37	chr14	44974526	44974526	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagactgaacttcagcaggAgcctcttctgcagaagtctc	11	11	4	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:44974526A>T	ENST00000340446.4	-	1	1956	c.1665T>A	c.(1663-1665)gcT>gcA	p.A555A	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	555	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCAGCAGGAGCCTCTTCTG	0.507																																																	0								ENSG00000189139						33	34	34					14																	44974526		2203	4300	6503	FSCB	SO:0001819	synonymous_variant	0			-	HGNC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1665T>A	14.37:g.44974526A>T		Somatic	0	53	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	12	62.50	Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP							NULL	p.A555	ENST00000340446.4	37	c.1665	CCDS9679.1	14																																																																																			-	NULL		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	protein_coding	OTTHUMT00000276788.1	A	NM_032135	-		44974526	-1	no_errors	ENST00000340446	ensembl	human	known	74_37	silent	SNP	0.000	T	T	44974526	A	T	44974526	2	4	229	1	0	0	0	0	0	0	0	1	6068	291	11	5		5	FSCB	14	44974526	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	9740603	44974526	62375014	119	18507											
FSCB	84075	genome.wustl.edu	37	chr14	44975616	44975616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaattcagggtgttcactaGcaaaaatctttcccgacgat	8	9	3	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:44975616G>T	ENST00000340446.4	-	1	866	c.575C>A	c.(574-576)gCt>gAt	p.A192D	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	192						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTGTTCACTAGCAAAAATCTT	0.373																																																	0								ENSG00000189139						136	142	140					14																	44975616		2203	4300	6503	FSCB	SO:0001583	missense	0			-	HGNC	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.575C>A	14.37:g.44975616G>T	ENSP00000344579:p.Ala192Asp	Somatic	0	74	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP							NULL	p.A192D	ENST00000340446.4	37	c.575	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645869	0.29246	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.26810	1.71	4.6	-1.32	0.09201	.	.	.	.	.	T	0.28234	0.0697	L	0.29908	0.895	0.09310	N	1	D	0.59767	0.986	P	0.56865	0.808	T	0.25433	-1.0132	9	0.62326	D	0.03	-0.6631	8.7478	0.34598	0.4964:0.0:0.5036:0.0	.	192	Q5H9T9	FSCB_HUMAN	D	192	ENSP00000344579:A192D	ENSP00000344579:A192D	A	-	2	0	FSCB	44045366	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.034000	0.13776	-0.027000	0.13873	-0.290000	0.09829	GCT	-	NULL		0.373	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	protein_coding	OTTHUMT00000276788.1	G	NM_032135	-		44975616	-1	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	SNP	0.000	T	T	44975616	G	T	44975616	3	4	229	1	0	0	0	0	1	0	0	0	6068	971	34	3	1906	3	FSCB	14	44975616	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	1090	44975616	62373924	120	18508											
SYT16	83851	genome.wustl.edu	37	chr14	62567381	62567381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggagatgaaggaaaccAaaggccagcagatctgcaga	15	7	1	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:62567381A>G	ENST00000430451.2	+	6	2091	c.1894A>G	c.(1894-1896)Aaa>Gaa	p.K632E	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	632					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAAGGAAACCAAAGGCCAGCA	0.507																																																	0								ENSG00000139973						113	119	117					14																	62567381		2043	4179	6222	SYT16	SO:0001583	missense	0			-	HGNC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1894A>G	14.37:g.62567381A>G	ENSP00000394700:p.Lys632Glu	Somatic	0	61	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K632E	ENST00000430451.2	37	c.1894	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775327	0.49786	.	.	ENSG00000139973	ENST00000430451	T	0.72942	-0.7	5.76	4.63	0.57726	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.192531	0.46442	D	0.000296	T	0.66268	0.2772	L	0.60957	1.885	0.80722	D	1	P	0.37824	0.609	B	0.40864	0.342	T	0.66221	-0.5978	10	0.39692	T	0.17	-9.8854	8.3319	0.32191	0.7969:0.1337:0.0694:0.0	.	632	Q17RD7	SYT16_HUMAN	E	632	ENSP00000394700:K632E	ENSP00000394700:K632E	K	+	1	0	SYT16	61637134	0.912000	0.30974	1.000000	0.80357	0.993000	0.82548	1.926000	0.40084	2.191000	0.70037	0.533000	0.62120	AAA	-	superfamily_C2_dom,smart_C2_dom		0.507	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	protein_coding	OTTHUMT00000411700.1	A	NM_031914	-		62567381	1	no_errors	ENST00000430451	ensembl	human	novel	74_37	missense	SNP	0.974	G	G	62567381	A	G	62567381	3	3	229	1	0	0	0	0	1	0	0	0	15479	131	5	5	1916	5	SYT16	14	62567381	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	17591765	62567381	44782159	121	18509											
C14orf143	90141	genome.wustl.edu	37	chr14	90263599	90263599	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacaatagttaggcttccttCtgtccatagttcagggcata	8	10	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:90263599C>T	ENST00000316738.7	-	6	508	c.480G>A	c.(478-480)caG>caA	p.Q160Q	EFCAB11_ENST00000555872.1_Silent_p.Q136Q|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556609.1_Silent_p.Q112Q	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	160	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						AGGCTTCCTTCTGTCCATAGT	0.398																																																	0								ENSG00000140025						157	135	143					14																	90263599		2203	4300	6503	EFCAB11	SO:0001819	synonymous_variant	0			-	HGNC	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"EF-hand domain containing"	20357	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 143"	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.480G>A	14.37:g.90263599C>T		Somatic	0	27	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Silent	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q160	ENST00000316738.7	37	c.480	CCDS9887.1	14																																																																																			-	pfscan_EF_hand_dom		0.398	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	protein_coding	OTTHUMT00000309022.2	C	NM_145231	-		90263599	-1	no_errors	ENST00000316738	ensembl	human	known	74_37	silent	SNP	0.004	T	T	90263599	C	T	90263599	2	4	229	1	0	0	0	0	0	0	0	1	1750	912	32	2		2	C14orf143	14	90263599	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	27696218	90263599	17085941	122	18510											
SLC24A4	123041	genome.wustl.edu	37	chr14	92958100	92958100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggggcctgcagaccatGgttgttaattatggatcaac	12	9	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:92958100G>T	ENST00000532405.1	+	15	1855	c.1629G>T	c.(1627-1629)atG>atT	p.M543I	SLC24A4_ENST00000351924.5_Missense_Mutation_p.M507I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M524I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M479I|SLC24A4_ENST00000298877.1_Missense_Mutation_p.M526I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	543					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)		TGCAGACCATGGTTGTTAATT	0.517																																					NSCLC(10;315 435 10383 28450 38798)												0								ENSG00000140090						181	155	164					14																	92958100		2203	4300	6503	SLC24A4	SO:0001583	missense	0			-	HGNC	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.1629G>T	14.37:g.92958100G>T	ENSP00000431840:p.Met543Ile	Somatic	0	43	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP							pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.M543I	ENST00000532405.1	37	c.1629	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.72|15.72	2.917867|2.917867	0.52546|0.52546	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	.|T;T;T;T;T	.|0.60548	.|0.18;0.18;0.18;0.18;0.18	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Sodium/calcium exchanger membrane region (1);	.|0.035107	.|0.85682	.|D	.|0.000000	T|T	0.43500|0.43500	0.1250|0.1250	N|N	0.10916|0.10916	0.065|0.065	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B	.|0.32425	.|0.257;0.371;0.126	.|B;B;B	.|0.36092	.|0.146;0.217;0.163	T|T	0.32981|0.32981	-0.9886|-0.9886	5|10	.|0.19590	.|T	.|0.45	.|.	19.5349|19.5349	0.95247|0.95247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|524;479;543	.|Q8NFF2-3;Q8NFF2-2;Q8NFF2	.|.;.;NCKX4_HUMAN	C|I	409|479;524;543;526;507	.|ENSP00000376948:M479I;ENSP00000433302:M524I;ENSP00000431840:M543I;ENSP00000298877:M526I;ENSP00000337789:M507I	.|ENSP00000298877:M526I	G|M	+|+	1|3	0|0	SLC24A4|SLC24A4	92027853|92027853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	4.666000|4.666000	0.61554|0.61554	2.618000|2.618000	0.88619|0.88619	0.561000|0.561000	0.74099|0.74099	GGT|ATG	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.517	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	protein_coding	OTTHUMT00000395240.1	G	NM_153646	-		92958100	1	no_errors	ENST00000532405	ensembl	human	known	74_37	missense	SNP	1.000	T	T	92958100	G	T	92958100	3	4	229	1	0	0	0	0	1	0	0	0	14476	1348	47	3	1636	3	SLC24A4	14	92958100	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	2694501	92958100	14391440	123	18511											
RTL1	388015	genome.wustl.edu	37	chr14	101349306	101349306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtggagggacactcgtaaAaggtctcgctgtgatcactg	14	9	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr14:101349306A>G	ENST00000534062.1	-	1	1878	c.1820T>C	c.(1819-1821)tTt>tCt	p.F607S	MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	607					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ACACTCGTAAAAGGTCTCGCT	0.567																																																	0								ENSG00000254656						57	52	53					14																	101349306		1568	3582	5150	RTL1	SO:0001583	missense	0			-	HGNC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1820T>C	14.37:g.101349306A>G	ENSP00000435342:p.Phe607Ser	Somatic	0	46	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	15	46.43	E9PKS8	Missense_Mutation	SNP							pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.F607S	ENST00000534062.1	37	c.1820	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	A	11.34	1.611227	0.28712	.	.	ENSG00000254656	ENST00000534062	T	0.22743	1.94	3.71	1.32	0.21799	.	0.480369	0.15662	N	0.250848	T	0.14787	0.0357	L	0.47716	1.5	0.09310	N	1	P	0.36616	0.561	B	0.36719	0.231	T	0.17258	-1.0375	10	0.19147	T	0.46	.	4.4793	0.11759	0.7269:0.0:0.1005:0.1726	.	607	E9PKS8	.	S	607	ENSP00000435342:F607S	ENSP00000435342:F607S	F	-	2	0	RTL1	100419059	0.102000	0.21896	0.002000	0.10522	0.915000	0.54546	1.667000	0.37471	0.275000	0.22094	0.482000	0.46254	TTT	-	NULL		0.567	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	protein_coding	OTTHUMT00000395127.1	A	NM_001134888	-		101349306	-1	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	SNP	0.011	G	G	101349306	A	G	101349306	3	3	229	1	0	0	0	0	1	0	0	0	13732	14	1	5	2260	5	RTL1	14	101349306	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	8391206	101349306	6000234	124	18512											
CHRNA3	1136	genome.wustl.edu	37	chr15	78893698	78893698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagagggacagcacagcaTcaacagattcagaactagag	11	9	2	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr15:78893698T>C	ENST00000326828.5	-	5	1670	c.1286A>G	c.(1285-1287)gAt>gGt	p.D429G	CHRNA3_ENST00000348639.3_Missense_Mutation_p.D429G	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	429					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CAGCACAGCATCAACAGATTC	0.448																																																	0								ENSG00000080644						163	151	155					15																	78893698		2196	4293	6489	CHRNA3	SO:0001583	missense	0			-	HGNC		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1286A>G	15.37:g.78893698T>C	ENSP00000315602:p.Asp429Gly	Somatic	0	67	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D429G	ENST00000326828.5	37	c.1286	CCDS10305.1	15	.	.	.	.	.	.	.	.	.	.	T	4.327	0.060138	0.08339	.	.	ENSG00000080644	ENST00000348639;ENST00000326828	D;D	0.85702	-2.02;-2.02	5.79	4.66	0.58398	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.690028	0.14556	N	0.312359	T	0.79269	0.4417	L	0.43598	1.365	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.62548	-0.6831	10	0.19590	T	0.45	.	11.8361	0.52325	0.0:0.0686:0.0:0.9314	.	429;429	P32297;P32297-3	ACHA3_HUMAN;.	G	429	ENSP00000267951:D429G;ENSP00000315602:D429G	ENSP00000315602:D429G	D	-	2	0	CHRNA3	76680753	0.774000	0.28592	0.002000	0.10522	0.771000	0.43674	4.911000	0.63328	1.010000	0.39314	0.482000	0.46254	GAT	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.448	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	protein_coding	OTTHUMT00000290111.3	T		-		78893698	-1	no_errors	ENST00000326828	ensembl	human	known	74_37	missense	SNP	0.096	C	C	78893698	T	C	78893698	3	2	229	1	0	0	0	0	1	0	0	0	3386	1435	50	5	324	5	CHRNA3	15	78893698	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09		78893698	23637694	125	18513											
TELO2	9894	genome.wustl.edu	37	chr16	1545430	1545430	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgctgatggaggcgcAgtgtcggcagcagacgcagc	18	10	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr16:1545430A>T	ENST00000262319.6	+	3	698	c.419A>T	c.(418-420)cAg>cTg	p.Q140L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	140					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATGGAGGCGCAGTGTCGGCAG	0.687																																																	0								ENSG00000100726						13	12	12					16																	1545430		2154	4239	6393	TELO2	SO:0001583	missense	0			-	HGNC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.419A>T	16.37:g.1545430A>T	ENSP00000262319:p.Gln140Leu	Somatic	0	39	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP							pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.Q140L	ENST00000262319.6	37	c.419	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	A	2.984	-0.209619	0.06140	.	.	ENSG00000100726	ENST00000262319	D	0.84730	-1.89	5.33	4.2	0.49525	.	0.840330	0.10979	N	0.612898	T	0.79347	0.4430	M	0.63428	1.95	0.27658	N	0.947163	B	0.28512	0.214	B	0.21360	0.034	T	0.65809	-0.6078	10	0.11485	T	0.65	-37.9427	7.7011	0.28623	0.6213:0.0:0.0:0.3787	.	140	Q9Y4R8	TELO2_HUMAN	L	140	ENSP00000262319:Q140L	ENSP00000262319:Q140L	Q	+	2	0	TELO2	1485431	0.992000	0.36948	0.987000	0.45799	0.086000	0.17979	1.337000	0.33862	2.014000	0.59158	0.533000	0.62120	CAG	-	NULL		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	protein_coding	OTTHUMT00000103602.2	A	NM_016111	-		1545430	1	no_errors	ENST00000262319	ensembl	human	known	74_37	missense	SNP	0.766	T	T	1545430	A	T	1545430	3	4	229	1	0	0	0	0	1	0	0	0	15764	188	7	5	425	5	TELO2	16	1545430	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09		1545430	88809323	126	18514											
SMG1	23049	genome.wustl.edu	37	chr16	18859200	18859200	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattttgctgtaacaatcctGcatcatggcttggtcttcat	7	9	3	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr16:18859200G>C	ENST00000446231.2	-	37	6191	c.5779C>G	c.(5779-5781)Cag>Gag	p.Q1927E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q1927E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1927	Interaction with SMG8 and SMG9.				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						TAACAATCCTGCATCATGGCT	0.398																																																	0								ENSG00000157106						158	147	150					16																	18859200		1889	4112	6001	SMG1	SO:0001583	missense	0			-	HGNC	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.5779C>G	16.37:g.18859200G>C	ENSP00000402515:p.Gln1927Glu	Somatic	0	65	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP							pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1927E	ENST00000446231.2	37	c.5779	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603008	0.66445	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.64438	-0.1;-0.1	5.85	5.85	0.93711	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.68723	0.3032	L	0.27053	0.805	0.52099	D	0.999945	P;P	0.52577	0.954;0.924	D;P	0.65140	0.932;0.9	T	0.62709	-0.6797	10	0.24483	T	0.36	.	20.1624	0.98139	0.0:0.0:1.0:0.0	.	1787;1927	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	E	1927	ENSP00000402515:Q1927E;ENSP00000374118:Q1927E	ENSP00000374118:Q1927E	Q	-	1	0	SMG1	18766701	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.822000	0.99363	2.764000	0.94973	0.591000	0.81541	CAG	-	superfamily_ARM-type_fold		0.398	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	protein_coding	OTTHUMT00000391817.1	G	NM_015092	-		18859200	-1	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	SNP	1.000	C	C	18859200	G	C	18859200	3	2	229	1	0	0	0	0	1	0	0	0	14803	1328	46	4	5314	4	SMG1	16	18859200	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	17313770	18859200	71495553	127	18515											
HYDIN	54768	genome.wustl.edu	37	chr16	71009037	71009037	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcactggaaaccactcActtggccagtttgcggcgac	11	13	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr16:71009037A>T	ENST00000393567.2	-	31	4923		c.e31+1			NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						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)				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)				GAAACCACTCACTTGGCCAGT	0.527																																																	0								ENSG00000157423						2	2	2					16																	71009037		1234	2806	4040	HYDIN	SO:0001630	splice_region_variant	0			-	HGNC	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.4772+1T>A	16.37:g.71009037A>T		Somatic	0	19	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	8	60.00	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Splice_Site	SNP							-	e30+2	ENST00000393567.2	37	c.4772+2	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367578	0.42003	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5807	0.45255	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HYDIN	69566538	1.000000	0.71417	0.992000	0.48379	0.066000	0.16364	5.169000	0.64984	2.077000	0.62373	0.413000	0.27773	.	-	-		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	A		-	Intron	71009037	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	splice_site	SNP	0.995	T	T	71009037	A	T	71009037	5	4	229	1	0	0	0	0	0	0	1	0	7469	173	6	5	10815	5	HYDIN	16	71009037	Splice_Site	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	52149837	71009037	19345716	128	18516											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	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)		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)	GRCh37	CM920675	TP53	M	rs11540652	ENSG00000141510	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	TP53	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;	-	HGNC	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	Somatic	0	71	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	0	100.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	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	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs11540652		7577538	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577538	C	T	7577538	3	4	229	1	0	0	0	0	1	0	0	0	16388	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		7577538	73617672	129	18517											
IKZF3	22806	genome.wustl.edu	37	chr17	37934017	37934017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtgtcttgcctccgcaCttgctagtttggaaaaatgt	10	8	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:37934017C>T	ENST00000346872.3	-	7	774	c.713G>A	c.(712-714)aGt>aAt	p.S238N	IKZF3_ENST00000439016.2_Missense_Mutation_p.S143N|IKZF3_ENST00000394189.2_Missense_Mutation_p.S56N|IKZF3_ENST00000351680.3_Missense_Mutation_p.S199N|IKZF3_ENST00000583368.1_De_novo_Start_OutOfFrame|IKZF3_ENST00000377958.2_Missense_Mutation_p.S151N|IKZF3_ENST00000439167.2_Missense_Mutation_p.S165N|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.S204N|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.S95N|IKZF3_ENST00000467757.1_Missense_Mutation_p.S182N	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	238					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)			TGCCTCCGCACTTGCTAGTTT	0.423																																																	0								ENSG00000161405						137	146	143					17																	37934017		2203	4300	6503	IKZF3	SO:0001583	missense	0			-	HGNC	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.713G>A	17.37:g.37934017C>T	ENSP00000344544:p.Ser238Asn	Somatic	0	67	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	20	59.18	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S238N	ENST00000346872.3	37	c.713	CCDS11346.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.94|12.94	2.089417|2.089417	0.36855|0.36855	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T|.	0.09073|.	3.53;3.26;3.02;3.3;3.34;4.35|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.47857|0.47857	0.1468|0.1468	N|N	0.21097|0.21097	0.63|0.63	0.36496|0.36496	D|D	0.868718|0.868718	B;D;B;B;D;B;B;B;B|.	0.67145|.	0.008;0.996;0.01;0.001;0.996;0.094;0.008;0.005;0.004|.	B;D;B;B;D;B;B;B;B|.	0.78314|.	0.009;0.991;0.004;0.005;0.991;0.039;0.009;0.004;0.004|.	T|T	0.50808|0.50808	-0.8784|-0.8784	10|5	0.19147|.	T|.	0.46|.	-18.19|-18.19	15.5203|15.5203	0.75859|0.75859	0.0:0.8614:0.1386:0.0|0.0:0.8614:0.1386:0.0	.|.	151;56;95;204;143;182;199;165;238|.	Q9UKT9-9;Q9UKT9-11;Q9UKT9-10;Q9UKT9-7;Q9UKT9-5;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	N|M	238;143;56;95;151;204;199;182|153;192	ENSP00000377741:S56N;ENSP00000367179:S95N;ENSP00000367194:S151N;ENSP00000438972:S204N;ENSP00000345622:S199N;ENSP00000420463:S182N|.	ENSP00000344544:S143N|.	S|V	-|-	2|1	0|0	IKZF3|IKZF3	35187543|35187543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.081000|3.081000	0.50120|0.50120	2.699000|2.699000	0.92147|0.92147	0.650000|0.650000	0.86243|0.86243	AGT|GTG	-	NULL		0.423	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	protein_coding	OTTHUMT00000257004.2	C	NM_012481	-		37934017	-1	no_errors	ENST00000346872	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37934017	C	T	37934017	3	4	229	1	0	0	0	0	1	0	0	0	7618	565	20	2	824	2	IKZF3	17	37934017	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	30356479	37934017	43261193	130	18518											
BRCA1	672	genome.wustl.edu	37	chr17	41246469	41246469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctctaggattctctgagCatggcagtttctgcttattc	8	9	3	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:41246469C>T	ENST00000357654.3	-	10	1197	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.C64Y|BRCA1_ENST00000346315.3_Missense_Mutation_p.C360Y|BRCA1_ENST00000354071.3_Missense_Mutation_p.C360Y|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.C313Y|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.C360Y|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	360					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|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 vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCTCTGAGCATGGCAGTTT	0.403			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0								ENSG00000012048						236	219	225					17																	41246469		2203	4300	6503	BRCA1	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1079G>A	17.37:g.41246469C>T	ENSP00000350283:p.Cys360Tyr	Somatic	0	42	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP							pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.C360Y	ENST00000357654.3	37	c.1079	CCDS11453.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.933|0.933	-0.712111|-0.712111	0.03206|0.03206	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.91894	.|-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	4.95|4.95	-0.529|-0.529	0.11901|0.11901	.|.	.|0.740143	.|0.13012	.|N	.|0.420747	D|D	0.89536|0.89536	0.6743|0.6743	M|M	0.64260|0.64260	1.97|1.97	0.09310|0.09310	N|N	1|1	.|B;B;B;B;P;B	.|0.36483	.|0.028;0.028;0.045;0.018;0.555;0.032	.|B;B;B;B;B;B	.|0.42163	.|0.026;0.045;0.081;0.14;0.378;0.086	T|T	0.81488|0.81488	-0.0910|-0.0910	5|10	.|0.52906	.|T	.|0.07	.|.	5.1148|5.1148	0.14829|0.14829	0.0:0.3787:0.1503:0.4711|0.0:0.3787:0.1503:0.4711	.|.	.|360;319;360;360;360;360	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	T|Y	226|360;360;360;360;64;360;313;360;334;64;360	.|ENSP00000350283:C360Y;ENSP00000326002:C360Y;ENSP00000246907:C360Y;ENSP00000310938:C64Y;ENSP00000418960:C360Y;ENSP00000418775:C313Y;ENSP00000419274:C360Y;ENSP00000419988:C334Y;ENSP00000418986:C64Y;ENSP00000419103:C360Y	.|ENSP00000310938:C64Y	A|C	-|-	1|2	0|0	BRCA1|BRCA1	38499995|38499995	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	0.457000|0.457000	0.21875|0.21875	-0.102000|-0.102000	0.12197|0.12197	-0.150000|-0.150000	0.13652|0.13652	GCT|TGC	-	pirsf_BRCA1		0.403	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	protein_coding	OTTHUMT00000348798.2	C	NM_007294	-		41246469	-1	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	SNP	0.002	T	T	41246469	C	T	41246469	3	4	229	1	0	0	0	0	1	0	0	0	1500	710	25	2	4638	2	BRCA1	17	41246469	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	3312452	41246469	39948741	131	18519											
DHX8	1659	genome.wustl.edu	37	chr17	41576233	41576233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggggggacttttagatgAggaccttgagattgaattgg	15	3	0	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:41576233A>G	ENST00000262415.3	+	10	1376	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	DHX8_ENST00000540306.1_Missense_Mutation_p.E435G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	435					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTTTTAGATGAGGACCTTGAG	0.388																																					NSCLC(56;1548 1661 49258 49987)												0								ENSG00000067596						65	61	62					17																	41576233		2203	4300	6503	DHX8	SO:0001583	missense	0			-	HGNC	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1304A>G	17.37:g.41576233A>G	ENSP00000262415:p.Glu435Gly	Somatic	0	55	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76		Missense_Mutation	SNP							pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E435G	ENST00000262415.3	37	c.1304	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772060	0.90108	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03889	3.77;3.79	5.19	5.19	0.71726	.	0.201268	0.42964	D	0.000630	T	0.26593	0.0650	M	0.92219	3.285	0.80722	D	1	D;P	0.61697	0.99;0.939	P;P	0.62649	0.905;0.735	T	0.18840	-1.0324	10	0.87932	D	0	.	13.9181	0.63914	1.0:0.0:0.0:0.0	.	435;435	F5H658;Q14562	.;DHX8_HUMAN	G	435	ENSP00000437886:E435G;ENSP00000262415:E435G	ENSP00000262415:E435G	E	+	2	0	DHX8	38931759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.937000	0.92936	1.962000	0.57031	0.459000	0.35465	GAG	-	NULL		0.388	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	protein_coding	OTTHUMT00000453485.1	A		-		41576233	1	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	SNP	1.000	G	G	41576233	A	G	41576233	3	3	229	1	0	0	0	0	1	0	0	0	4517	304	11	5	1342	5	DHX8	17	41576233	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	329764	41576233	39618977	132	18520											
C17orf57	124989	genome.wustl.edu	37	chr17	45518000	45518000	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaatatgaatataaaaCaacacaagattagtttacat	3	5	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:45518000C>T	ENST00000331493.2	+	25	3253	c.2842C>T	c.(2842-2844)Caa>Taa	p.Q948*		NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	948						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GAATATAAAACAACACAAGAT	0.313																																																	0								ENSG00000178852						80	84	83					17																	45518000		2203	4293	6496	EFCAB13	SO:0001587	stop_gained	0			-	HGNC	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2842C>T	17.37:g.45518000C>T	ENSP00000332111:p.Gln948*	Somatic	0	59	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	33	50.00	G3V128|Q49AG9	Nonsense_Mutation	SNP							NULL	p.Q948*	ENST00000331493.2	37	c.2842	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	.	37	6.284828	0.97440	.	.	ENSG00000178852	ENST00000331493	.	.	.	1.77	0.706	0.18133	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.169	0.15101	0.3845:0.6155:0.0:0.0	.	.	.	.	X	948	.	ENSP00000332111:Q948X	Q	+	1	0	C17orf57	42872999	0.022000	0.18835	0.042000	0.18584	0.242000	0.25591	0.028000	0.13644	0.255000	0.21593	0.306000	0.20318	CAA	-	NULL		0.313	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	protein_coding	OTTHUMT00000380147.4	C	NM_152347	-		45518000	1	no_errors	ENST00000331493	ensembl	human	known	74_37	nonsense	SNP	0.062	T	T	45518000	C	T	45518000	4	4	229	1	0	0	0	0	0	1	0	0	1867	479	17	2	2928	2	C17orf57	17	45518000	Nonsense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	3941767	45518000	35677210	133	18521											
CLTC	1213	genome.wustl.edu	37	chr17	57743601	57743601	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccttatgcatgcgcctcaAgtatgtgttttaatgctttt	7	8	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:57743601A>C	ENST00000269122.3	+	11	2056	c.1782A>C	c.(1780-1782)caA>caC	p.Q594H	CLTC_ENST00000393043.1_Splice_Site_p.Q594H|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	594	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGCGCCTCAAGTATGTGTTT	0.433			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0								ENSG00000141367						131	120	124					17																	57743601		2203	4300	6503	CLTC	SO:0001630	splice_region_variant	0			-	HGNC	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1782+1A>C	17.37:g.57743601A>C		Somatic	0	60	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	41	41.43	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP							pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.Q594H	ENST00000269122.3	37	c.1782	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273205	0.80580	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22336	1.96;1.96	5.44	0.727	0.18254	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.93763	3.455	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.85130	0.997;0.993	T	0.57289	-0.7837	10	0.87932	D	0	.	10.3857	0.44138	0.4809:0.0:0.5191:0.0	.	594;594	Q00610;Q00610-2	CLH1_HUMAN;.	H	594	ENSP00000269122:Q594H;ENSP00000376763:Q594H	ENSP00000269122:Q594H	Q	+	3	2	CLTC	55098383	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	2.052000	0.41316	-0.096000	0.12329	0.477000	0.44152	CAA	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	protein_coding	OTTHUMT00000258859.1	A	NM_004859	-	Missense_Mutation	57743601	1	no_errors	ENST00000269122	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57743601	A	C	57743601	5	2	229	1	0	0	0	0	0	0	1	0	3568	86	3	5	1824	5	CLTC	17	57743601	Splice_Site	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	12225601	57743601	23451609	134	18522											
BRIP1	83990	genome.wustl.edu	37	chr17	59761175	59761175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaagggtggcatcaatctTtaatgatgaaataatggttt	10	3	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:59761175T>C	ENST00000259008.2	-	20	3499	c.3232A>G	c.(3232-3234)Aag>Gag	p.K1078E		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1078					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)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GCATCAATCTTTAATGATGAA	0.383			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0								ENSG00000136492						175	174	174					17																	59761175		2203	4300	6503	BRIP1	SO:0001583	missense	0			-	HGNC	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3232A>G	17.37:g.59761175T>C	ENSP00000259008:p.Lys1078Glu	Somatic	0	32	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	Q3MJE2|Q8NCI5	Missense_Mutation	SNP							pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.K1078E	ENST00000259008.2	37	c.3232	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	T	8.406	0.842967	0.16963	.	.	ENSG00000136492	ENST00000259008	T	0.77620	-1.11	5.44	4.35	0.52113	.	0.631577	0.16055	N	0.231791	T	0.65801	0.2726	L	0.32530	0.975	0.23113	N	0.998278	B	0.26935	0.164	B	0.22601	0.04	T	0.51671	-0.8676	9	.	.	.	-2.6799	10.6214	0.45483	0.0:0.0:0.1611:0.8389	.	1078	Q9BX63	FANCJ_HUMAN	E	1078	ENSP00000259008:K1078E	.	K	-	1	0	BRIP1	57115957	0.199000	0.23386	0.006000	0.13384	0.218000	0.24690	1.429000	0.34903	0.981000	0.38548	0.455000	0.32223	AAG	-	NULL		0.383	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	protein_coding	OTTHUMT00000445362.1	T	NM_032043	-		59761175	-1	no_errors	ENST00000259008	ensembl	human	known	74_37	missense	SNP	0.031	C	C	59761175	T	C	59761175	3	2	229	1	0	0	0	0	1	0	0	0	1516	1850	64	5	521	5	BRIP1	17	59761175	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	2017574	59761175	21434035	135	18523											
TEX2	55852	genome.wustl.edu	37	chr17	62291465	62291465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgccggatgccgagAagtgaatggcgatggtatct	13	11	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:62291465A>G	ENST00000583097.1	-	2	285	c.113T>C	c.(112-114)tTc>tCc	p.F38S	TEX2_ENST00000258991.3_Missense_Mutation_p.F38S|TEX2_ENST00000584379.1_Missense_Mutation_p.F38S			Q8IWB9	TEX2_HUMAN	testis expressed 2	38					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGATGCCGAGAAGTGAATGGC	0.562																																																	0								ENSG00000136478						109	100	103					17																	62291465		2203	4300	6503	TEX2	SO:0001583	missense	0			-	HGNC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.113T>C	17.37:g.62291465A>G	ENSP00000462665:p.Phe38Ser	Somatic	0	41	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP							pfam_DUF2404	p.F38S	ENST00000583097.1	37	c.113		17	.	.	.	.	.	.	.	.	.	.	A	12.43	1.937037	0.34189	.	.	ENSG00000136478	ENST00000258991	T	0.58506	0.33	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.71457	-0.4587	10	0.87932	D	0	-15.96	14.8276	0.70125	1.0:0.0:0.0:0.0	.	38;38	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	38	ENSP00000258991:F38S	ENSP00000258991:F38S	F	-	2	0	TEX2	59645197	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.962000	0.93254	1.923000	0.55706	0.254000	0.18369	TTC	-	NULL		0.562	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	protein_coding	OTTHUMT00000443745.1	A	NM_018469	-		62291465	-1	no_errors	ENST00000258991	ensembl	human	known	74_37	missense	SNP	1.000	G	G	62291465	A	G	62291465	3	3	229	1	0	0	0	0	1	0	0	0	15788	246	9	5	3335	5	TEX2	17	62291465	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	2530290	62291465	18903745	136	18524											
OTOP3	347741	genome.wustl.edu	37	chr17	72939701	72939701	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtggcatttcccccagGtgtggcctgatgctgaccct	13	12	0	2	rs374568232		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:72939701G>T	ENST00000328801.4	+	5	687	c.687G>T	c.(685-687)agG>agT	p.R229S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	229						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TTTCCCCCAGGTGTGGCCTGA	0.597																																																	0								ENSG00000182938						105	72	83					17																	72939701		2203	4300	6503	OTOP3	SO:0001630	splice_region_variant	0			-	HGNC	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.687-1G>T	17.37:g.72939701G>T		Somatic	0	43	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92		Missense_Mutation	SNP							pfam_Otopetrin	p.R229S	ENST00000328801.4	37	c.687	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974195	0.53720	.	.	ENSG00000182938	ENST00000328801	T	0.18016	2.24	4.9	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	M	0.80982	2.52	0.80722	D	1	D	0.54047	0.964	P	0.46585	0.521	T	0.02751	-1.1115	9	.	.	.	.	9.8973	0.41327	0.2515:0.0:0.7485:0.0	.	229	Q7RTS5	OTOP3_HUMAN	S	229	ENSP00000328090:R229S	.	R	+	3	2	OTOP3	70451296	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	1.604000	0.36804	0.220000	0.20860	-1.119000	0.02030	AGG	-	NULL		0.597	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	protein_coding	OTTHUMT00000445308.1	G	NM_178233	-	Missense_Mutation	72939701	1	no_errors	ENST00000328801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	72939701	G	T	72939701	5	4	229	1	0	0	0	0	0	0	1	0	11309	1275	44	3	705	3	OTOP3	17	72939701	Splice_Site	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	10648236	72939701	8255509	137	18525											
SEC14L1	6397	genome.wustl.edu	37	chr17	75208137	75208137	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actccaagaggtcgccacaaCcacccaaaaaggactccctg	7	16	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:75208137C>G	ENST00000413679.2	+	15	2020	c.1717C>G	c.(1717-1719)Cca>Gca	p.P573A	SEC14L1_ENST00000443798.4_Missense_Mutation_p.P573A|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P539A|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P573A|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P573A|SEC14L1_ENST00000430767.4_Missense_Mutation_p.P573A|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P573A|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P539A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	573	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GTCGCCACAACCACCCAAAAA	0.532																																																	0								ENSG00000129657						182	194	190					17																	75208137		2203	4300	6503	SEC14L1	SO:0001583	missense	0			-	HGNC	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1717C>G	17.37:g.75208137C>G	ENSP00000394716:p.Pro573Ala	Somatic	0	25	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP							pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.P573A	ENST00000413679.2	37	c.1717	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769895	0.31320	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.70045	-0.33;-0.33;-0.33;-0.33;-0.33;-0.45	5.19	4.19	0.49359	GOLD (2);	0.205225	0.52532	D	0.000075	T	0.49012	0.1532	L	0.28115	0.83	0.51233	D	0.999919	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.35251	-0.9796	10	0.13853	T	0.58	-11.7657	10.0246	0.42063	0.1558:0.694:0.1502:0.0	.	573;573	Q92503-2;Q92503	.;S14L1_HUMAN	A	573;573;573;573;573;539	ENSP00000376268:P573A;ENSP00000406030:P573A;ENSP00000390392:P573A;ENSP00000408169:P573A;ENSP00000394716:P573A;ENSP00000389838:P539A	ENSP00000376268:P573A	P	+	1	0	SEC14L1	72719732	1.000000	0.71417	0.687000	0.30102	0.726000	0.41606	3.298000	0.51818	1.254000	0.44035	0.655000	0.94253	CCA	-	superfamily_GOLD,pfscan_GOLD		0.532	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	protein_coding	OTTHUMT00000436240.1	C	NM_003003	-		75208137	1	no_errors	ENST00000392476	ensembl	human	known	74_37	missense	SNP	1.000	G	G	75208137	C	G	75208137	3	3	229	1	0	0	0	0	1	0	0	0	13989	507	18	4	1767	4	SEC14L1	17	75208137	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	2268436	75208137	5987073	138	18526											
TNRC6C	57690	genome.wustl.edu	37	chr17	76045614	76045614	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaacttgctgccacaAgagagcacagaaccacaaac	10	11	0	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr17:76045614A>G	ENST00000588061.1	+	5	1198	c.471A>G	c.(469-471)caA>caG	p.Q157Q	TNRC6C_ENST00000335749.4_Silent_p.Q157Q|TNRC6C_ENST00000588847.1_Silent_p.Q157Q|TNRC6C_ENST00000301624.4_Silent_p.Q157Q|TNRC6C_ENST00000544502.1_Silent_p.Q157Q|TNRC6C_ENST00000541771.1_Silent_p.Q157Q			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	157	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCTGCCACAAGAGAGCACAG	0.483																																																	0								ENSG00000078687						95	96	96					17																	76045614		2044	4188	6232	TNRC6C	SO:0001819	synonymous_variant	0			-	HGNC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.471A>G	17.37:g.76045614A>G		Somatic	0	46	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP							pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q157	ENST00000588061.1	37	c.471	CCDS45798.1	17																																																																																			-	NULL		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	protein_coding	OTTHUMT00000395947.1	A	NM_018996	-		76045614	1	no_errors	ENST00000335749	ensembl	human	known	74_37	silent	SNP	0.777	G	G	76045614	A	G	76045614	2	3	229	1	0	0	0	0	0	0	0	1	16349	69	3	5		5	TNRC6C	17	76045614	Silent	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	837477	76045614	5149596	139	18527											
RPL36	25873	genome.wustl.edu	37	chr19	5691405	5691405	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccgtacgagcggcgcGccatggagttactgaaggtc	14	12	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:5691405G>C	ENST00000577222.1	+	5	713	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	RPL36_ENST00000579649.1_Missense_Mutation_p.A57P|RPL36_ENST00000394580.2_Missense_Mutation_p.A57P|RPL36_ENST00000579446.1_Missense_Mutation_p.A57P|RPL36_ENST00000347512.3_Missense_Mutation_p.A57P			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	57					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)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CGAGCGGCGCGCCATGGAGTT	0.617											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000130255						63	67	65					19																	5691405		2203	4300	6503	RPL36	SO:0001583	missense	0			-	HGNC		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.169G>C	19.37:g.5691405G>C	ENSP00000464342:p.Ala57Pro	Somatic	0	99	0	628	0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP							pfam_Ribosomal_L36e	p.A57P	ENST00000577222.1	37	c.169	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090952	0.36855	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.47177	0.85;0.85	4.31	3.27	0.37495	.	0.000000	0.85682	U	0.000000	T	0.54319	0.1851	M	0.81682	2.555	0.80722	D	1	B	0.25521	0.128	B	0.37422	0.249	T	0.55585	-0.8118	10	0.52906	T	0.07	.	9.9356	0.41550	0.1033:0.0:0.8967:0.0	.	57	Q9Y3U8	RL36_HUMAN	P	57	ENSP00000252543:A57P;ENSP00000378081:A57P	ENSP00000252543:A57P	A	+	1	0	RPL36	5642405	1.000000	0.71417	0.761000	0.31378	0.010000	0.07245	9.557000	0.98129	0.799000	0.34018	-0.373000	0.07131	GCC	-	pfam_Ribosomal_L36e		0.617	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	protein_coding	OTTHUMT00000442561.1	G	NM_015414	-		5691405	1	no_errors	ENST00000347512	ensembl	human	known	74_37	missense	SNP	0.995	C	C	5691405	G	C	5691405	3	2	229	1	0	0	0	0	1	0	0	0	13594	1087	38	4	175	4	RPL36	19	5691405	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09		5691405	53437578	140	18528											
LONP1	9361	genome.wustl.edu	37	chr19	5707147	5707147	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggccttgtacagccgcTtaggaatctgccgagacagg	14	10	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:5707147T>G	ENST00000360614.3	-	7	1227	c.1070A>C	c.(1069-1071)aAg>aCg	p.K357T	LONP1_ENST00000540670.2_Missense_Mutation_p.K161T|LONP1_ENST00000585374.1_Missense_Mutation_p.K243T|LONP1_ENST00000590729.1_Missense_Mutation_p.K227T|LONP1_ENST00000593119.1_Missense_Mutation_p.K293T	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTACAGCCGCTTAGGAATCTG	0.607																																																	0								ENSG00000196365						32	29	30					19																	5707147		2203	4300	6503	LONP1	SO:0001583	missense	0			-	HGNC	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1070A>C	19.37:g.5707147T>G	ENSP00000353826:p.Lys357Thr	Somatic	0	131	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	83	28.45		Missense_Mutation	SNP							pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.K357T	ENST00000360614.3	37	c.1070	CCDS12148.1	19	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725971	0.69074	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.44482	0.92;0.92	4.4	4.4	0.53042	Peptidase S16, lon N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.79475	2.455	0.58432	D	0.999999	P;P;P	0.45768	0.866;0.763;0.866	P;P;P	0.51974	0.686;0.686;0.686	T	0.60347	-0.7281	10	0.56958	D	0.05	-44.8785	11.588	0.50929	0.0:0.0:0.0:1.0	.	357;293;357	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	357;321;161	ENSP00000353826:K357T;ENSP00000441523:K161T	ENSP00000351177:K321T	K	-	2	0	LONP1	5658147	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.999000	0.57031	1.626000	0.50381	0.459000	0.35465	AAG	-	pfam_Pept_S16_N,smart_Pept_S16_N,tigrfam_Lon_bac/euk-typ		0.607	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	protein_coding	OTTHUMT00000451662.1	T	NM_004793	-		5707147	-1	no_errors	ENST00000360614	ensembl	human	known	74_37	missense	SNP	1.000	G	G	5707147	T	G	5707147	3	3	229	1	0	0	0	0	1	0	0	0	8894	1609	56	5	1857	5	LONP1	19	5707147	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	15742	5707147	53421836	141	18529											
ZNF560	147741	genome.wustl.edu	37	chr19	9578410	9578410	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaccacattccttacaccCatagggcttctctccagtgt	5	14	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:9578410C>G	ENST00000301480.4	-	10	1426	c.1213G>C	c.(1213-1215)Ggg>Cgg	p.G405R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	405					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCCTTACACCCATAGGGCTTC	0.438																																																	0								ENSG00000198028						80	81	81					19																	9578410		2203	4300	6503	ZNF560	SO:0001583	missense	0			-	HGNC	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1213G>C	19.37:g.9578410C>G	ENSP00000301480:p.Gly405Arg	Somatic	0	29	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q495S9|Q495T1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G405R	ENST00000301480.4	37	c.1213	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241997	0.58995	.	.	ENSG00000198028	ENST00000301480	T	0.16597	2.33	1.95	-0.443	0.12249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.01197	-0.965	0.09310	N	1	P	0.40360	0.714	B	0.37091	0.241	T	0.21314	-1.0249	9	0.35671	T	0.21	.	2.6892	0.05116	0.0:0.4069:0.2584:0.3348	.	405	Q96MR9	ZN560_HUMAN	R	405	ENSP00000301480:G405R	ENSP00000301480:G405R	G	-	1	0	ZNF560	9439410	0.000000	0.05858	0.000000	0.03702	0.916000	0.54674	-5.169000	0.00145	-0.039000	0.13602	0.491000	0.48974	GGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	protein_coding	OTTHUMT00000449901.1	C	NM_152476	-		9578410	-1	no_errors	ENST00000301480	ensembl	human	known	74_37	missense	SNP	0.001	G	G	9578410	C	G	9578410	3	3	229	1	0	0	0	0	1	0	0	0	17998	594	21	4	1163	4	ZNF560	19	9578410	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	3871263	9578410	49550573	142	18530											
DCAF15	90379	genome.wustl.edu	37	chr19	14070706	14070706	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacatcgtcattctggAggtgggcccagggcgggcag	16	10	2	1	rs3217681|rs141180609|rs373011773	byFrequency	TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:14070706A>G	ENST00000254337.6	+	9	1460	c.1439A>G	c.(1438-1440)gAg>gGg	p.E480G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	480					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTCATTCTGGAGGTGGGCCCA	0.592											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132017						63	60	61					19																	14070706		2203	4300	6503	DCAF15	SO:0001630	splice_region_variant	0			-	HGNC	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1440+1A>G	19.37:g.14070706A>G		Somatic	0	46	0	692	0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	10.91	B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP							NULL	p.E480G	ENST00000254337.6	37	c.1439	CCDS32926.1	19	.	.	.	.	.	.	.	.	.	.	a	18.18	3.566035	0.65651	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	L	0.32530	0.975	0.58432	D	0.999999	P	0.49783	0.928	P	0.46758	0.526	T	0.53732	-0.8397	9	0.87932	D	0	-22.7842	12.778	0.57459	1.0:0.0:0.0:0.0	.	480	Q66K64	DCA15_HUMAN	G	480	.	ENSP00000254337:E480G	E	+	2	0	DCAF15	13931706	1.000000	0.71417	0.999000	0.59377	0.435000	0.31806	8.035000	0.88872	1.677000	0.50941	0.448000	0.29417	GAG	-	NULL		0.592	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	protein_coding	OTTHUMT00000458099.1	A	NM_138353	-	Missense_Mutation	14070706	1	no_errors	ENST00000254337	ensembl	human	known	74_37	missense	SNP	1.000	G	G	14070706	A	G	14070706	5	3	229	1	0	0	0	0	0	0	1	0	4269	318	11	5	1473	5	DCAF15	19	14070706	Splice_Site	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	4492296	14070706	45058277	143	18531											
PDE4C	5143	genome.wustl.edu	37	chr19	18327583	18327583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcgcagactcagtcGctgcttggcgctgaggttct	12	13	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:18327583G>A	ENST00000355502.3	-	16	2324	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	PDE4C_ENST00000594617.3_Nonsense_Mutation_p.R485*|PDE4C_ENST00000594465.3_Nonsense_Mutation_p.R485*|PDE4C_ENST00000262805.12_Nonsense_Mutation_p.R453*|PDE4C_ENST00000447275.3_Nonsense_Mutation_p.R379*|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Nonsense_Mutation_p.R200*|PDE4C_ENST00000539010.1_Nonsense_Mutation_p.R254*|PDE4C_ENST00000597297.1_Nonsense_Mutation_p.R255*			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	485					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGACTCAGTCGCTGCTTGGCG	0.617																																																	0								ENSG00000105650						98	89	92					19																	18327583		2203	4300	6503	PDE4C	SO:0001587	stop_gained	0			-	HGNC		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1453C>T	19.37:g.18327583G>A	ENSP00000347689:p.Arg485*	Somatic	0	44	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	25	48.98	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Nonsense_Mutation	SNP							pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R485*	ENST00000355502.3	37	c.1453	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	g	23.6	4.440831	0.83993	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	.	.	.	4.52	-0.412	0.12367	.	0.206611	0.39759	N	0.001269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3984	0.11374	0.1826:0.0:0.5002:0.3173	.	.	.	.	X	564;485;473;453;379;291;199;254;594	.	ENSP00000262805:R453X	R	-	1	2	PDE4C	18188583	0.287000	0.24315	0.980000	0.43619	0.327000	0.28475	-0.263000	0.08670	-0.266000	0.09339	-0.530000	0.04314	CGA	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	protein_coding	OTTHUMT00000466295.1	G		-		18327583	-1	no_errors	ENST00000355502	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	18327583	G	A	18327583	4	1	229	1	0	0	0	0	0	1	0	0	11643	1095	38	1	701	1	PDE4C	19	18327583	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	4256877	18327583	40801400	144	18532											
CYP2A13	1553	genome.wustl.edu	37	chr19	41599673	41599673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgaagcacccagaggtgGagggtaagactggaaaggga	16	6	1	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:41599673G>A	ENST00000330436.3	+	6	970	c.970G>A	c.(970-972)Gag>Aag	p.E324K		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	324					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CCCAGAGGTGGAGGGTAAGAC	0.592																																																	0								ENSG00000197838						66	59	61					19																	41599673		2203	4300	6503	CYP2A13	SO:0001583	missense	0			-	HGNC	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.970G>A	19.37:g.41599673G>A	ENSP00000332679:p.Glu324Lys	Somatic	0	62	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.E324K	ENST00000330436.3	37	c.970	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	19.14	3.769746	0.69992	.	.	ENSG00000197838	ENST00000330436	T	0.68479	-0.33	4.46	4.46	0.54185	.	0.137149	0.48286	U	0.000184	T	0.62816	0.2459	L	0.34521	1.04	0.37489	D	0.916291	P	0.37688	0.605	P	0.46452	0.517	T	0.68315	-0.5441	10	0.49607	T	0.09	.	11.1486	0.48444	0.0:0.3123:0.6877:0.0	.	324	Q16696	CP2AD_HUMAN	K	324	ENSP00000332679:E324K	ENSP00000332679:E324K	E	+	1	0	CYP2A13	46291513	0.999000	0.42202	1.000000	0.80357	0.490000	0.33462	3.277000	0.51654	2.339000	0.79563	0.479000	0.44913	GAG	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.592	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	protein_coding	OTTHUMT00000463505.1	G	NM_000766	-		41599673	1	no_errors	ENST00000330436	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41599673	G	A	41599673	3	1	229	1	0	0	0	0	1	0	0	0	4163	1175	41	2	992	2	CYP2A13	19	41599673	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	23272090	41599673	17529310	145	18533											
ZNF230	7773	genome.wustl.edu	37	chr19	44514467	44514467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatgaagactgcccttgCcagcaaatctgggaacaaac	8	13	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:44514467C>T	ENST00000429154.2	+	5	504	c.276C>T	c.(274-276)tgC>tgT	p.C92C		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	92	KRNB.			C -> V (in Ref. 1; AAB62180). {ECO:0000305}.	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)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ACTGCCCTTGCCAGCAAATCT	0.458																																					GBM(175;914 2069 22996 47111 52600)												0								ENSG00000159882						89	80	83					19																	44514467		2203	4300	6503	ZNF230	SO:0001819	synonymous_variant	0			-	HGNC	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.276C>T	19.37:g.44514467C>T		Somatic	0	40	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C92	ENST00000429154.2	37	c.276	CCDS33044.1	19																																																																																			-	NULL		0.458	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	protein_coding	OTTHUMT00000460456.1	C		-		44514467	1	no_errors	ENST00000429154	ensembl	human	known	74_37	silent	SNP	0.015	T	T	44514467	C	T	44514467	2	4	229	1	0	0	0	0	0	0	0	1	17791	747	26	2		2	ZNF230	19	44514467	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	2914794	44514467	14614516	146	18534											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52719809	52719809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgatgccaaccaacatGtcaagtctgccctggcctca	8	15	3	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:52719809G>A	ENST00000322088.6	+	9	1079	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.V286I|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.V162I	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	341	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CAACCAACATGTCAAGTCTGC	0.577			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0								ENSG00000105568						143	97	113					19																	52719809		2203	4300	6503	PPP2R1A	SO:0001583	missense	0			-	HGNC		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1021G>A	19.37:g.52719809G>A	ENSP00000324804:p.Val341Ile	Somatic	0	52	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP							pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V341I	ENST00000322088.6	37	c.1021	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655783	0.88056	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.46451	0.87;0.87	4.38	3.34	0.38264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000039	T	0.69788	0.3150	H	0.95816	3.725	0.52099	D	0.999948	D;D;D	0.65815	0.995;0.991;0.991	D;P;P	0.65140	0.932;0.749;0.749	T	0.76932	-0.2776	10	0.87932	D	0	-36.7147	10.2122	0.43147	0.0978:0.0:0.9022:0.0	.	286;341;341	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	I	331;261;341;286	ENSP00000324804:V341I;ENSP00000415067:V286I	ENSP00000324804:V341I	V	+	1	0	PPP2R1A	57411621	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	8.567000	0.90737	1.203000	0.43233	0.655000	0.94253	GTC	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	protein_coding	OTTHUMT00000267967.2	G	NM_014225	-		52719809	1	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	SNP	1.000	A	A	52719809	G	A	52719809	3	1	229	1	0	0	0	0	1	0	0	0	12387	1377	48	2	1055	2	PPP2R1A	19	52719809	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	8205342	52719809	6409174	147	18535											
NLRP5	126206	genome.wustl.edu	37	chr19	56544095	56544095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacagagcgggccatgAagaccctgtgtgccaagctg	13	12	0	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:56544095A>G	ENST00000390649.3	+	8	2395	c.2395A>G	c.(2395-2397)Aag>Gag	p.K799E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	799					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGGCCATGAAGACCCTGTG	0.597																																																	0								ENSG00000171487						105	111	109					19																	56544095		2094	4240	6334	NLRP5	SO:0001583	missense	0			-	HGNC	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2395A>G	19.37:g.56544095A>G	ENSP00000375063:p.Lys799Glu	Somatic	0	41	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	42	22.22	A8MTY4|Q86W29	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K799E	ENST00000390649.3	37	c.2395	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065578	0.36470	.	.	ENSG00000171487	ENST00000390649	D	0.88975	-2.45	4.84	1.39	0.22231	.	0.537062	0.14225	N	0.333121	D	0.91768	0.7396	M	0.73372	2.23	0.22292	N	0.999222	D	0.71674	0.998	D	0.70935	0.971	T	0.81913	-0.0715	10	0.62326	D	0.03	.	5.6507	0.17614	0.5894:0.3169:0.0937:0.0	.	799	P59047	NALP5_HUMAN	E	799	ENSP00000375063:K799E	ENSP00000375063:K799E	K	+	1	0	NLRP5	61235907	0.240000	0.23847	0.917000	0.36280	0.077000	0.17291	0.632000	0.24583	0.272000	0.22027	0.529000	0.55759	AAG	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.597	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	protein_coding	OTTHUMT00000313735.1	A	NM_153447	-		56544095	1	no_errors	ENST00000390649	ensembl	human	known	74_37	missense	SNP	0.610	G	G	56544095	A	G	56544095	3	3	229	1	0	0	0	0	1	0	0	0	10482	247	9	5	2425	5	NLRP5	19	56544095	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	3824286	56544095	2584888	148	18536											
ZNF132	7691	genome.wustl.edu	37	chr19	58944720	58944720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctttttatgctgtgcaagGttacaaagatggctgaagag	11	5	1	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:58944720G>T	ENST00000254166.3	-	3	2491	c.2091C>A	c.(2089-2091)aaC>aaA	p.N697K	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	697					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(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTGTGCAAGGTTACAAAGAT	0.433																																																	0								ENSG00000131849						122	118	119					19																	58944720		2203	4300	6503	ZNF132	SO:0001583	missense	0			-	HGNC	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.2091C>A	19.37:g.58944720G>T	ENSP00000254166:p.Asn697Lys	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q32MI9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N697K	ENST00000254166.3	37	c.2091	CCDS12980.1	19	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984860	0.35036	.	.	ENSG00000131849	ENST00000254166	T	0.07114	3.22	2.62	0.328	0.15918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	L	0.41356	1.27	0.09310	N	1	P	0.44627	0.839	B	0.29267	0.1	T	0.36456	-0.9747	9	0.10111	T	0.7	.	5.3971	0.16275	0.34:0.0:0.66:0.0	.	697	P52740	ZN132_HUMAN	K	697	ENSP00000254166:N697K	ENSP00000254166:N697K	N	-	3	2	ZNF132	63636532	0.000000	0.05858	0.452000	0.26994	0.925000	0.55904	-2.358000	0.01085	0.334000	0.23590	0.650000	0.86243	AAC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	protein_coding	OTTHUMT00000467035.1	G	NM_003433	-		58944720	-1	no_errors	ENST00000254166	ensembl	human	known	74_37	missense	SNP	0.037	T	T	58944720	G	T	58944720	3	4	229	1	0	0	0	0	1	0	0	0	17729	1252	44	3	33	3	ZNF132	19	58944720	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	2400625	58944720	184263	149	18537											
ZNF324B	388569	genome.wustl.edu	37	chr19	58967494	58967494	+	Nonsense_Mutation	SNP	A	A	T													agcgtacgcacacaggcgagAagcccttcgtatgcgcgctc							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:58967494A>T	ENST00000336614.4	+	4	1290	c.1183A>T	c.(1183-1185)Aag>Tag	p.K395*	ZNF324B_ENST00000545523.1_Nonsense_Mutation_p.K395*|ZNF324B_ENST00000391696.1_Nonsense_Mutation_p.K385*	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	395					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(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)		CACAGGCGAGAAGCCCTTCGT	0.657																																																	0								ENSG00000249471						55	53	53					19																	58967494		2203	4300	6503	ZNF324B	SO:0001587	stop_gained	0			-	HGNC	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.1183A>T	19.37:g.58967494A>T	ENSP00000337473:p.Lys395*	Somatic	0	90	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	64	24.71	B2RTZ6|Q6ZMX8|Q6ZS42	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K395*	ENST00000336614.4	37	c.1183	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	A	35	5.576402	0.96565	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	.	.	.	3.22	3.22	0.36961	.	0.000000	0.44097	D	0.000497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7836	0.40662	1.0:0.0:0.0:0.0	.	.	.	.	X	395;395;385	.	ENSP00000337473:K395X	K	+	1	0	ZNF324B	63659306	0.486000	0.25980	0.971000	0.41717	0.808000	0.45660	1.078000	0.30754	1.456000	0.47831	0.482000	0.46254	AAG	-	pfscan_Znf_C2H2		0.657	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	A	NM_207395	-		58967494	1	no_errors	ENST00000336614	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	58967494	A	T	58967494	4	4	229	1	0	0	0	0	0	1	0	0	17852	247	9	5	1193	5	ZNF324B	19	58967494	Nonsense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	22774	58967494	161489	150	18538	493	2									
ZNF324B	388569	genome.wustl.edu	37	chr19	58967495	58967495	+	Missense_Mutation	SNP	A	A	G													gcgtacgcacacaggcgagaAgcccttcgtatgcgcgctct							TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr19:58967495A>G	ENST00000336614.4	+	4	1291	c.1184A>G	c.(1183-1185)aAg>aGg	p.K395R	ZNF324B_ENST00000545523.1_Missense_Mutation_p.K395R|ZNF324B_ENST00000391696.1_Missense_Mutation_p.K385R	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	395					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(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)		ACAGGCGAGAAGCCCTTCGTA	0.657																																																	0								ENSG00000249471						55	53	54					19																	58967495		2203	4300	6503	ZNF324B	SO:0001583	missense	0			-	HGNC	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.1184A>G	19.37:g.58967495A>G	ENSP00000337473:p.Lys395Arg	Somatic	0	90	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	65	23.53	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K395R	ENST00000336614.4	37	c.1184	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355864	0.61293	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.24908	1.83;1.83;1.83	3.22	2.17	0.27698	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000497	T	0.20820	0.0501	N	0.13140	0.3	0.30428	N	0.777402	P;P	0.45011	0.848;0.793	P;P	0.51487	0.566;0.671	T	0.07481	-1.0770	10	0.66056	D	0.02	.	7.1207	0.25442	0.7999:0.0:0.0:0.2001	.	395;385	Q6AW86;C9JTQ8	Z324B_HUMAN;.	R	395;395;385	ENSP00000337473:K395R;ENSP00000438930:K395R;ENSP00000375578:K385R	ENSP00000337473:K395R	K	+	2	0	ZNF324B	63659307	0.268000	0.24133	0.968000	0.41197	0.796000	0.44982	0.256000	0.18351	0.398000	0.25338	0.482000	0.46254	AAG	-	pfscan_Znf_C2H2		0.657	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	A	NM_207395	-		58967495	1	no_errors	ENST00000336614	ensembl	human	known	74_37	missense	SNP	1.000	G	G	58967495	A	G	58967495	3	3	229	1	0	0	0	0	1	0	0	0	17852	72	3	5	1194	5	ZNF324B	19	58967495	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	1	58967495	161488	151	18539	493	2									
CST2	1470	genome.wustl.edu	37	chr20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcacccgcagcaggcGtctgtagtactcatcttcag	10	13	4	0	rs112783512	byFrequency	TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557																																					Pancreas(193;496 3017 22514 29918)												0								ENSG00000170369	G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	105	85	92		196	0.9	0	20	dbSNP_132	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CST2	NM_001322.2	180	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	possibly-damaging	66/142	23807102	6,13000	2203	4300	6503	CST2	SO:0001583	missense	0			-	HGNC	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.196C>T	20.37:g.23807102G>A	ENSP00000307540:p.Arg66Cys	Somatic	0	53	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q9UCQ7	Missense_Mutation	SNP							pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R66C	ENST00000304725.2	37	c.196	CCDS13161.1	20	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165527	0.21538	6.81E-4	3.49E-4	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.0	0.943	0.19531	Proteinase inhibitor I25, cystatin (2);	0.376195	0.24379	N	0.039032	T	0.43233	0.1238	M	0.91612	3.225	0.09310	N	0.999999	P	0.40211	0.707	P	0.45119	0.47	T	0.39800	-0.9596	10	0.62326	D	0.03	.	5.7627	0.18209	0.0:0.0:0.6868:0.3132	.	66	P09228	CYTT_HUMAN	C	66	ENSP00000307540:R66C	ENSP00000307540:R66C	R	-	1	0	CST2	23755102	0.154000	0.22792	0.011000	0.14972	0.041000	0.13682	0.699000	0.25586	0.135000	0.18707	0.298000	0.19748	CGC	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.557	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	protein_coding	OTTHUMT00000078352.2	G		rs112783512		23807102	-1	no_errors	ENST00000304725	ensembl	human	known	74_37	missense	SNP	0.008	A	A	23807102	G	A	23807102	3	1	229	1	0	0	0	0	1	0	0	0	3974	1145	40	1	241	1	CST2	20	23807102	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09		23807102	39218418	152	18540											
CHMP4B	128866	genome.wustl.edu	37	chr20	32399398	32399398	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaagcaagaaacaggagTtcctggagaagaaaatcgag	12	5	0	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr20:32399398T>A	ENST00000217402.2	+	1	289	c.124T>A	c.(124-126)Ttc>Atc	p.F42I	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	42					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GAAACAGGAGTTCCTGGAGAA	0.647																																																	0								ENSG00000101421						21	26	24					20																	32399398		2202	4300	6502	CHMP4B	SO:0001583	missense	0			-	HGNC	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.124T>A	20.37:g.32399398T>A	ENSP00000217402:p.Phe42Ile	Somatic	0	109	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	69	26.60	E1P5N4|Q53ZD6	Missense_Mutation	SNP							pfam_Snf7	p.F42I	ENST00000217402.2	37	c.124	CCDS13228.1	20	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658094	0.88154	.	.	ENSG00000101421	ENST00000217402	T	0.72167	-0.63	5.31	5.31	0.75309	.	0.166668	0.53938	D	0.000051	T	0.81380	0.4810	M	0.82823	2.61	0.48395	D	0.99964	P	0.44816	0.844	P	0.52598	0.703	D	0.84435	0.0579	10	0.72032	D	0.01	-3.7706	14.9122	0.70767	0.0:0.0:0.0:1.0	.	42	Q9H444	CHM4B_HUMAN	I	42	ENSP00000217402:F42I	ENSP00000217402:F42I	F	+	1	0	CHMP4B	31863059	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.464000	0.60134	2.010000	0.58986	0.374000	0.22700	TTC	-	pfam_Snf7		0.647	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP4B	protein_coding	OTTHUMT00000078738.2	T		-		32399398	1	no_errors	ENST00000217402	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32399398	T	A	32399398	3	1	229	1	0	0	0	0	1	0	0	0	3359	1725	60	5	126	5	CHMP4B	20	32399398	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	8592296	32399398	30626122	153	18541											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19726140	19726140	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtaacttggttggaAaaaattcttattgtgccagg	12	5	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr21:19726140A>T	ENST00000284885.3	-	9	954	c.921T>A	c.(919-921)ttT>ttA	p.F307L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	307	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						CTTGGTTGGAAAAAATTCTTA	0.313																																																	0								ENSG00000154646						70	75	74					21																	19726140		2203	4291	6494	TMPRSS15	SO:0001583	missense	0			-	HGNC		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.921T>A	21.37:g.19726140A>T	ENSP00000284885:p.Phe307Leu	Somatic	0	78	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	37	41.27	Q2NKL7	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.F307L	ENST00000284885.3	37	c.921	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553785	0.45487	.	.	ENSG00000154646	ENST00000284885	T	0.17528	2.27	4.46	3.31	0.37934	CUB (5);	0.077703	0.53938	D	0.000057	T	0.11707	0.0285	N	0.20328	0.56	0.37958	D	0.93287	P	0.47841	0.901	P	0.44597	0.454	T	0.18713	-1.0328	9	.	.	.	.	8.8929	0.35446	0.9096:0.0:0.0904:0.0	.	307	P98073	ENTK_HUMAN	L	307	ENSP00000284885:F307L	.	F	-	3	2	TMPRSS15	18648011	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.290000	0.43531	0.755000	0.32990	-0.388000	0.06559	TTT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.313	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	A	NM_002772	-		19726140	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19726140	A	T	19726140	3	4	229	1	0	0	0	0	1	0	0	0	16253	11	1	5	2206	5	TMPRSS15	21	19726140	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09		19726140	28403755	154	18542											
C21orf29	54084	genome.wustl.edu	37	chr21	45953680	45953680	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctgcggaaggacactcGggtctgccaggcgccggccg	18	14	1	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr21:45953680G>A	ENST00000323084.4	-	3	495	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TSPEAR_ENST00000397916.1_Nonsense_Mutation_p.R76*	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	144	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AAGGACACTCGGGTCTGCCAG	0.692																																																	0								ENSG00000175894						30	31	30					21																	45953680		2197	4288	6485	TSPEAR	SO:0001587	stop_gained	0			-	HGNC	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.430C>T	21.37:g.45953680G>A	ENSP00000321987:p.Arg144*	Somatic	0	67	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	16	77.03		Nonsense_Mutation	SNP							pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.R144*	ENST00000323084.4	37	c.430	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	g	25.7	4.664979	0.88251	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	.	.	.	4.9	4.9	0.64082	.	0.266911	0.35739	N	0.003002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4229	13.0983	0.59206	0.0:0.0:0.8395:0.1605	.	.	.	.	X	144;76;144	.	ENSP00000321987:R144X	R	-	1	2	TSPEAR	44778108	1.000000	0.71417	0.751000	0.31187	0.350000	0.29205	2.326000	0.43849	2.254000	0.74563	0.650000	0.86243	CGA	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	protein_coding	OTTHUMT00000098761.1	G	NM_144991	-		45953680	-1	no_errors	ENST00000323084	ensembl	human	known	74_37	nonsense	SNP	0.101	A	A	45953680	G	A	45953680	4	1	229	1	0	0	0	0	0	1	0	0	2126	1124	39	1	1619	1	C21orf29	21	45953680	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	26227540	45953680	2176215	155	18543											
FTCD	10841	genome.wustl.edu	37	chr21	47570376	47570376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagaagattggtggacaCctgagccaggttcttctcat	11	10	2	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr21:47570376C>T	ENST00000291670.5	-	6	743	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	FTCD_ENST00000359679.2_Missense_Mutation_p.V234M|FTCD_ENST00000397746.3_Missense_Mutation_p.V234M|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397748.1_Missense_Mutation_p.V234M|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.V234M|FTCD_ENST00000355384.2_Missense_Mutation_p.V234M	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	234	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TTGGTGGACACCTGAGCCAGG	0.587																																																	0								ENSG00000160282						134	120	125					21																	47570376		2202	4300	6502	FTCD	SO:0001583	missense	0			-	HGNC	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.700G>A	21.37:g.47570376C>T	ENSP00000291670:p.Val234Met	Somatic	0	74	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	22	63.93	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP							pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.V234M	ENST00000291670.5	37	c.700	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002355	0.93227	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.83	4.83	0.62350	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase, C-terminal subdomain (2);Formiminotransferase catalytic domain (1);	0.130715	0.50627	D	0.000104	D	0.93657	0.7974	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.981;0.98;0.988	D	0.95553	0.8622	10	0.87932	D	0	.	17.9601	0.89083	0.0:1.0:0.0:0.0	.	234;234;234	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	M	234	ENSP00000291670:V234M;ENSP00000380856:V234M;ENSP00000352707:V234M;ENSP00000347545:V234M;ENSP00000380854:V234M;ENSP00000380851:V234M	ENSP00000291670:V234M	V	-	1	0	FTCD	46394804	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.855000	0.69510	2.243000	0.73865	0.650000	0.86243	GTG	-	pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat		0.587	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	protein_coding	OTTHUMT00000206962.1	C	NM_006657	-		47570376	-1	no_errors	ENST00000359679	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47570376	C	T	47570376	3	4	229	1	0	0	0	0	1	0	0	0	6083	507	18	2	961	2	FTCD	21	47570376	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	1616696	47570376	559519	156	18544											
CCT8L2	150160	genome.wustl.edu	37	chr22	17073326	17073326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggccagggtctggactgCagccaagctgctcagcaggt	14	12	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr22:17073326C>A	ENST00000359963.3	-	1	374	c.115G>T	c.(115-117)Gca>Tca	p.A39S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	39					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCTGGACTGCAGCCAAGCTG	0.647																																																	0								ENSG00000198445						62	66	65					22																	17073326		2203	4300	6503	CCT8L2	SO:0001583	missense	0			-	HGNC	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.115G>T	22.37:g.17073326C>A	ENSP00000353048:p.Ala39Ser	Somatic	0	104	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	57	22.67	A4QPH3|Q9UJS3	Missense_Mutation	SNP							pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.A39S	ENST00000359963.3	37	c.115	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	c	17.88	3.498039	0.64186	.	.	ENSG00000198445	ENST00000359963	T	0.16597	2.33	2.0	2.0	0.26442	.	0.000000	0.38217	U	0.001765	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02603	-1.1135	10	0.72032	D	0.01	-15.2322	7.4831	0.27417	0.0:1.0:0.0:0.0	.	39	Q96SF2	TCPQM_HUMAN	S	39	ENSP00000353048:A39S	ENSP00000353048:A39S	A	-	1	0	CCT8L2	15453326	0.018000	0.18449	0.008000	0.14137	0.548000	0.35241	0.885000	0.28227	1.126000	0.42016	0.393000	0.25936	GCA	-	superfamily_Cpn60/TCP-1		0.647	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	protein_coding	OTTHUMT00000280580.1	C		-		17073326	-1	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	SNP	0.018	A	A	17073326	C	A	17073326	3	1	229	1	0	0	0	0	1	0	0	0	2963	710	25	3	1562	3	CCT8L2	22	17073326	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09		17073326	34231240	157	18545											
CLTCL1	8218	genome.wustl.edu	37	chr22	19187282	19187282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccagctcatctgcaTgaatgacgatgtgaagacca	9	12	2	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr22:19187282T>C	ENST00000263200.10	-	24	3908	c.3836A>G	c.(3835-3837)cAt>cGt	p.H1279R	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.H1279R|CLTCL1_ENST00000353891.5_Missense_Mutation_p.H1279R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1279	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCATCTGCATGAATGACGAT	0.532			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0								ENSG00000070371						54	55	54					22																	19187282		2151	4253	6404	CLTCL1	SO:0001583	missense	0			-	HGNC		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3836A>G	22.37:g.19187282T>C	ENSP00000445677:p.His1279Arg	Somatic	0	50	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP							pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.H1279R	ENST00000263200.10	37	c.3836	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862601	0.71949	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20069	2.1;2.1;2.1	3.99	3.99	0.46301	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.91510	3.215	0.80722	D	1	D;D;P;P	0.55385	0.971;0.965;0.892;0.892	D;D;P;P	0.67900	0.954;0.921;0.901;0.86	T	0.63853	-0.6543	10	0.72032	D	0.01	-15.5828	13.0507	0.58952	0.0:0.0:0.0:1.0	.	1279;102;102;1279	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	R	1279	ENSP00000439662:H1279R;ENSP00000445677:H1279R;ENSP00000441158:H1279R	ENSP00000445677:H1279R	H	-	2	0	CLTCL1	17567282	1.000000	0.71417	0.881000	0.34555	0.684000	0.39900	7.210000	0.77924	1.662000	0.50781	0.482000	0.46254	CAT	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.532	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	protein_coding	OTTHUMT00000316397.5	T	NM_007098	-		19187282	-1	no_errors	ENST00000263200	ensembl	human	known	74_37	missense	SNP	1.000	C	C	19187282	T	C	19187282	3	2	229	1	0	0	0	0	1	0	0	0	3569	1464	51	5	1122	5	CLTCL1	22	19187282	Missense_Mutation	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	2113956	19187282	32117284	158	18546											
C22orf29	79680	genome.wustl.edu	37	chr22	19839598	19839598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actagctgtgctcttctgctCcatggtcgttcgcacacaca	8	14	2	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr22:19839598C>T	ENST00000405640.1	-	2	855	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E63K|C22orf29_ENST00000407472.1_Missense_Mutation_p.E63K			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	63					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CTCTTCTGCTCCATGGTCGTT	0.622																																																	0								ENSG00000215012						87	76	79					22																	19839598		2203	4300	6503	C22orf29	SO:0001583	missense	0			-	HGNC	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.187G>A	22.37:g.19839598C>T	ENSP00000384924:p.Glu63Lys	Somatic	0	40	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP							NULL	p.E63K	ENST00000405640.1	37	c.187	CCDS13769.1	22	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283958	0.59867	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640;ENST00000416337	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	3.38	3.38	0.38709	.	.	.	.	.	T	0.38957	0.1060	N	0.22421	0.69	0.32528	N	0.535278	D	0.89917	1.0	D	0.83275	0.996	T	0.46512	-0.9186	9	0.72032	D	0.01	.	10.5571	0.45123	0.0:1.0:0.0:0.0	.	63	Q7L3V2	CV029_HUMAN	K	63	ENSP00000386111:E63K;ENSP00000330596:E63K;ENSP00000384924:E63K;ENSP00000392994:E63K	ENSP00000330596:E63K	E	-	1	0	C22orf29	18219598	0.001000	0.12720	0.982000	0.44146	0.119000	0.20118	0.313000	0.19415	2.199000	0.70637	0.655000	0.94253	GAG	-	NULL		0.622	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C22orf29	protein_coding	OTTHUMT00000317290.2	C	NM_024627	-		19839598	-1	no_errors	ENST00000328554	ensembl	human	known	74_37	missense	SNP	0.984	T	T	19839598	C	T	19839598	3	4	229	1	0	0	0	0	1	0	0	0	2143	864	30	2	911	2	C22orf29	22	19839598	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	652316	19839598	31464968	159	18547											
ELFN2	114794	genome.wustl.edu	37	chr22	37769292	37769292	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcgtgctctcggatgaGtactcggggctggaggagta	17	7	1	1	rs150497338		TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr22:37769292G>T	ENST00000402918.2	-	3	3068	c.2283C>A	c.(2281-2283)taC>taA	p.Y761*	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	761					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCTCGGATGAGTACTCGGGGC	0.627																																																	0								ENSG00000166897						90	82	85					22																	37769292		2203	4300	6503	ELFN2	SO:0001587	stop_gained	0			-	HGNC	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2283C>A	22.37:g.37769292G>T	ENSP00000385277:p.Tyr761*	Somatic	0	57	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	36	38.98	Q96PY3	Nonsense_Mutation	SNP							superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.Y761*	ENST00000402918.2	37	c.2283	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	G	38	6.980715	0.97979	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	.	.	.	4.63	3.59	0.41128	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.463	13.5721	0.61853	0.0804:0.0:0.9196:0.0	.	.	.	.	X	761	.	ENSP00000300147:Y761X	Y	-	3	2	ELFN2	36099238	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.120000	0.41968	2.265000	0.75225	0.561000	0.74099	TAC	-	NULL		0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	protein_coding	OTTHUMT00000318900.2	G	NM_052906	-		37769292	-1	no_errors	ENST00000402918	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	37769292	G	T	37769292	4	4	229	1	0	0	0	0	0	1	0	0	5060	1024	36	3	183	3	ELFN2	22	37769292	Nonsense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	17929694	37769292	13535274	160	18548											
FAM19A5	25817	genome.wustl.edu	37	chr22	49042466	49042466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgggacagcagccagcCtcggaggacgatcgcccggc	16	15	0	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chr22:49042466C>T	ENST00000402357.1	+	2	303	c.170C>T	c.(169-171)cCt>cTt	p.P57L	FAM19A5_ENST00000358295.5_Missense_Mutation_p.P50L|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	57						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AGCAGCCAGCCTCGGAGGACG	0.672																																																	0								ENSG00000219438						26	33	31					22																	49042466		2083	4221	6304	FAM19A5	SO:0001583	missense	0			-	HGNC	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.170C>T	22.37:g.49042466C>T	ENSP00000383933:p.Pro57Leu	Somatic	0	170	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	96	26.72	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP							pfam_Chemokine-like_FAM19A2	p.P50L	ENST00000402357.1	37	c.149	CCDS46728.1	22	.	.	.	.	.	.	.	.	.	.	C	31	5.086990	0.94100	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.77565	0.4149	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.961;0.997	T	0.79918	-0.1600	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	50;57	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	L	57;57;50	.	ENSP00000336812:P57L	P	+	2	0	FAM19A5	47428902	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	CCT	-	pfam_Chemokine-like_FAM19A2		0.672	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	FAM19A5	protein_coding	OTTHUMT00000317504.1	C	NM_015381	-		49042466	1	no_errors	ENST00000358295	ensembl	human	known	74_37	missense	SNP	1.000	T	T	49042466	C	T	49042466	3	4	229	1	0	0	0	0	1	0	0	0	5537	681	24	2	271	2	FAM19A5	22	49042466	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	11273174	49042466	2262100	161	18549											
MXRA5	25878	genome.wustl.edu	37	chrX	3238224	3238224	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcctgcaaagaacttTgagctgctctggtggaagct	12	10	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:3238224T>A	ENST00000217939.6	-	5	5656	c.5502A>T	c.(5500-5502)tcA>tcT	p.S1834S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1834						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)				CAAAGAACTTTGAGCTGCTCT	0.493																																																	0								ENSG00000101825						85	82	83					X																	3238224		2203	4300	6503	MXRA5	SO:0001819	synonymous_variant	0			-	HGNC	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.5502A>T	X.37:g.3238224T>A		Somatic	0	61	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	49	39.51	Q6P1M7|Q9Y3Y8	Silent	SNP							pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S1834	ENST00000217939.6	37	c.5502	CCDS14124.1	X																																																																																			-	NULL		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	T	NM_015419	-		3238224	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	SNP	0.000	A	A	3238224	T	A	3238224	2	1	229	1	0	0	0	0	0	0	0	1	10005	1799	63	5		5	MXRA5	23	3238224	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09		3238224	152032336	162	18550											
CDKL5	6792	genome.wustl.edu	37	chrX	18627005	18627005	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccagagaaggcacctcTtccttccatacacgccagaa	6	16	1	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:18627005T>G	ENST00000379989.3	+	14	2304	c.2019T>G	c.(2017-2019)tcT>tcG	p.S673S	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Silent_p.S673S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	673					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAGGCACCTCTTCCTTCCATA	0.403																																																	0								ENSG00000008086						73	63	66					X																	18627005		2203	4300	6503	CDKL5	SO:0001819	synonymous_variant	0			-	HGNC	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2019T>G	X.37:g.18627005T>G		Somatic	0	83	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	50	24.24	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S673	ENST00000379989.3	37	c.2019	CCDS14186.1	X																																																																																			-	NULL		0.403	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	protein_coding	OTTHUMT00000055945.2	T	NM_003159	-		18627005	1	no_errors	ENST00000379989	ensembl	human	known	74_37	silent	SNP	0.993	G	G	18627005	T	G	18627005	2	3	229	1	0	0	0	0	0	0	0	1	3159	1596	56	5		5	CDKL5	23	18627005	Silent	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	15388781	18627005	136643555	163	18551											
ZNF81	347344	genome.wustl.edu	37	chrX	47774883	47774883	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaacacatgtactgaatttGggaagatcttcacccagagg	9	9	2	3			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:47774883G>C	ENST00000376954.1	+	6	1206	c.838G>C	c.(838-840)Ggg>Cgg	p.G280R	ZNF81_ENST00000338637.7_Missense_Mutation_p.G280R			P51508	ZNF81_HUMAN	zinc finger protein 81	280					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TACTGAATTTGGGAAGATCTT	0.378																																																	0								ENSG00000197779						55	49	51					X																	47774883		1877	4100	5977	ZNF81	SO:0001583	missense	0			-	HGNC	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.838G>C	X.37:g.47774883G>C	ENSP00000366153:p.Gly280Arg	Somatic	0	102	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	70	24.21	Q6RX22|Q96QH6	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G280R	ENST00000376954.1	37	c.838	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.702886	0.00719	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.22743	1.94;1.94	3.92	3.06	0.35304	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.382752	0.19320	N	0.117170	T	0.27524	0.0676	M	0.81341	2.54	0.22728	N	0.998806	B	0.19583	0.037	B	0.26517	0.07	T	0.24404	-1.0161	10	0.59425	D	0.04	.	8.9134	0.35568	0.1151:0.0:0.8849:0.0	.	280	P51508	ZNF81_HUMAN	R	280	ENSP00000366153:G280R;ENSP00000341151:G280R	ENSP00000341151:G280R	G	+	1	0	ZNF81	47659827	1.000000	0.71417	0.257000	0.24404	0.193000	0.23685	4.797000	0.62503	1.028000	0.39785	0.600000	0.82982	GGG	-	pfscan_Znf_C2H2		0.378	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	protein_coding	OTTHUMT00000056455.2	G	NM_007137	-		47774883	1	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	SNP	1.000	C	C	47774883	G	C	47774883	3	2	229	1	0	0	0	0	1	0	0	0	18181	1348	47	4	852	4	ZNF81	23	47774883	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	29147878	47774883	107495677	164	18552											
PORCN	64840	genome.wustl.edu	37	chrX	48370298	48370298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagatgcacatggtagaCaccgtgacatggcacaagat	12	8	0	4			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:48370298C>T	ENST00000326194.6	+	3	391	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PORCN_ENST00000537758.1_Silent_p.D116D|PORCN_ENST00000355961.4_Silent_p.D116D|PORCN_ENST00000355092.3_Silent_p.D116D|PORCN_ENST00000359882.4_Silent_p.D116D|PORCN_ENST00000367574.4_Silent_p.D45D|PORCN_ENST00000361988.3_Silent_p.D116D	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	116					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACATGGTAGACACCGTGACAT	0.607											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000102312						164	111	129					X																	48370298		2203	4300	6503	PORCN	SO:0001819	synonymous_variant	0			-	HGNC	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.348C>T	X.37:g.48370298C>T		Somatic	0	22	0	954	0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP							pfam_MBOAT_fam	p.D116	ENST00000326194.6	37	c.348	CCDS14299.1	X																																																																																			-	NULL		0.607	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	protein_coding	OTTHUMT00000356990.1	C	NM_022825	-		48370298	1	no_errors	ENST00000326194	ensembl	human	known	74_37	silent	SNP	0.988	T	T	48370298	C	T	48370298	2	4	229	1	0	0	0	0	0	0	0	1	12260	477	17	2		2	PORCN	23	48370298	Silent	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	595415	48370298	106900262	165	18553											
DGKK	139189	genome.wustl.edu	37	chrX	50213247	50213247	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccagctctggggcaactTctggagtcagctctggggcc	16	12	4	0			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:50213247T>A	ENST00000376025.2	-	0	490							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					tggggcaacttctggagtcag	0.657																																																	0								ENSG00000204466						30	35	33					X																	50213247		1889	4085	5974	DGKK			0			-	HGNC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213247T>A		Somatic	0	62	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	28	56.25	B2RP91	RNA	SNP							-	NULL	ENST00000376025.2	37	NULL		X																																																																																			-	-		0.657	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	T	NM_001013742	-		50213247	-1	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	SNP	0.123	A	A	50213247	T	A	50213247	1	1	229	0	1	0	0	0	0	0	0	0	4474	1783	62	5		5	DGKK	23	50213247	RNA	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	1842949	50213247	105057313	166	18554											
RLIM	51132	genome.wustl.edu	37	chrX	73812194	73812194	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgaagatcaaggactAtggttggaggtctctgtcct	11	7	2	2			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:73812194A>T	ENST00000332687.6	-	4	1174	c.956T>A	c.(955-957)aTa>aAa	p.I319K	RLIM_ENST00000349225.2_Missense_Mutation_p.I319K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	319					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCAAGGACTATGGTTGGAGG	0.478																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0								ENSG00000131263						59	51	54					X																	73812194		2203	4300	6503	RLIM	SO:0001583	missense	0			-	HGNC	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.956T>A	X.37:g.73812194A>T	ENSP00000328059:p.Ile319Lys	Somatic	0	18	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I319K	ENST00000332687.6	37	c.956	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830678	0.50845	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.16457	2.34;2.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.45629	-0.9248	10	0.87932	D	0	-9.1494	14.9929	0.71401	1.0:0.0:0.0:0.0	.	319	Q9NVW2	RNF12_HUMAN	K	319	ENSP00000328059:I319K;ENSP00000253571:I319K	ENSP00000328059:I319K	I	-	2	0	RLIM	73728919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.959000	0.93110	1.923000	0.55706	0.486000	0.48141	ATA	-	NULL		0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	protein_coding	OTTHUMT00000057268.1	A	NM_016120	-		73812194	-1	no_errors	ENST00000332687	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73812194	A	T	73812194	3	4	229	1	0	0	0	0	1	0	0	0	13398	449	16	5	922	5	RLIM	23	73812194	Missense_Mutation	SNP	A	TCGA-WP-A9GB-01A-11D-A37C-09	23598947	73812194	81458366	167	18555											
NOX1	27035	genome.wustl.edu	37	chrX	100104368	100104368	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggaagtcaacaggttgttGaaccaggaaaaggcacctgt	13	7	1	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:100104368G>T	ENST00000372966.3	-	11	1549	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.F411L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	448	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACAGGTTGTTGAACCAGGAAA	0.448																																																	0								ENSG00000007952						93	66	76					X																	100104368		2203	4300	6503	NOX1	SO:0001583	missense	0			-	HGNC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1344C>A	X.37:g.100104368G>T	ENSP00000362057:p.Phe448Leu	Somatic	0	47	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.11	A8K836|O95691|Q2PP02	Missense_Mutation	SNP							pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.F448L	ENST00000372966.3	37	c.1344	CCDS14474.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.23|10.23	1.293404|1.293404	0.23564|0.23564	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957|ENST00000427768	D;D|.	0.95205|.	-3.64;-3.64|.	4.38|4.38	3.52|3.52	0.40303|0.40303	Ferric reductase, NAD binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57975|0.57975	0.2090|0.2090	L|L	0.56280|0.56280	1.765|1.765	0.53005|0.53005	D|D	0.99996|0.99996	D;P|.	0.76494|.	0.999;0.941|.	D;P|.	0.83275|.	0.996;0.766|.	T|T	0.53265|0.53265	-0.8463|-0.8463	10|5	0.44086|.	T|.	0.13|.	-13.0955|-13.0955	7.6606|7.6606	0.28400|0.28400	0.1988:0.0:0.8012:0.0|0.1988:0.0:0.8012:0.0	.|.	411;448|.	A6NGA6;Q9Y5S8|.	.;NOX1_HUMAN|.	L|K	448;411;137|133	ENSP00000362057:F448L;ENSP00000362051:F411L|.	ENSP00000362048:F137L|.	F|Q	-|-	3|1	2|0	NOX1|NOX1	99991024|99991024	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.545000|0.545000	0.35147|0.35147	1.734000|1.734000	0.38166|0.38166	0.860000|0.860000	0.35481|0.35481	-0.269000|-0.269000	0.10298|0.10298	TTC|CAA	-	pfam_Fe_red_NAD-bd_6		0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	protein_coding	OTTHUMT00000057495.1	G	NM_007052	-		100104368	-1	no_errors	ENST00000372966	ensembl	human	known	74_37	missense	SNP	0.986	T	T	100104368	G	T	100104368	3	4	229	1	0	0	0	0	1	0	0	0	10558	1281	45	3	362	3	NOX1	23	100104368	Missense_Mutation	SNP	G	TCGA-WP-A9GB-01A-11D-A37C-09	26292174	100104368	55166192	168	18556											
MBNL3	55796	genome.wustl.edu	37	chrX	131573543	131573543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcaaacttgcaatctgCatcagctcgagagcaagttc	10	10	2	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:131573543C>T	ENST00000370853.3	-	1	175	c.97G>A	c.(97-99)Gca>Aca	p.A33T	MBNL3_ENST00000370839.3_Missense_Mutation_p.A33T|MBNL3_ENST00000370857.3_Missense_Mutation_p.A33T|MBNL3_ENST00000370844.1_5'UTR	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	33					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TTGCAATCTGCATCAGCTCGA	0.463																																																	0								ENSG00000076770						169	160	163					X																	131573543		2203	4300	6503	MBNL3	SO:0001583	missense	0			-	HGNC	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.97G>A	X.37:g.131573543C>T	ENSP00000359890:p.Ala33Thr	Somatic	0	53	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	17.65	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP							smart_Znf_CCCH	p.A33T	ENST00000370853.3	37	c.97	CCDS14633.1	X	.	.	.	.	.	.	.	.	.	.	C	7.754	0.703995	0.15172	.	.	ENSG00000076770	ENST00000370857;ENST00000370853;ENST00000370839	T;T;T	0.49432	0.78;0.78;0.78	5.69	2.93	0.34026	Zinc finger, CCCH-type (2);	0.144460	0.47852	N	0.000201	T	0.23289	0.0563	N	0.11427	0.14	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.005	T	0.11867	-1.0570	10	0.06236	T	0.91	-0.9252	10.1701	0.42904	0.0:0.7262:0.0:0.2738	.	33;33	Q9NUK0;Q9NUK0-2	MBNL3_HUMAN;.	T	33	ENSP00000359894:A33T;ENSP00000359890:A33T;ENSP00000359876:A33T	ENSP00000359876:A33T	A	-	1	0	MBNL3	131401224	0.998000	0.40836	0.998000	0.56505	0.994000	0.84299	0.636000	0.24644	0.185000	0.20105	0.523000	0.50628	GCA	-	smart_Znf_CCCH		0.463	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBNL3	protein_coding	OTTHUMT00000058319.1	C	NM_018388	-		131573543	-1	no_errors	ENST00000370853	ensembl	human	known	74_37	missense	SNP	0.997	T	T	131573543	C	T	131573543	3	4	229	1	0	0	0	0	1	0	0	0	9357	710	25	2	1091	2	MBNL3	23	131573543	Missense_Mutation	SNP	C	TCGA-WP-A9GB-01A-11D-A37C-09	31469175	131573543	23697017	169	18557											
MAGEC3	139081	genome.wustl.edu	37	chrX	140985392	140985392	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgctcctccacgttaTgaatttttgtggggtccaag	10	9	0	1			TCGA-WP-A9GB-01A-11D-A37C-09	TCGA-WP-A9GB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8abdeb14-fa39-4bbc-8181-7196573b2629	765fa923-05c1-4fbe-a8dc-ba3c987c84d5	g.chrX:140985392T>A	ENST00000298296.1	+	8	1728				MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.Y318*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.Y318*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.Y238*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.Y318*	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCACGTTATGAATTTTTGT	0.478																																																	0								ENSG00000165509						64	66	65					X																	140985392		2203	4300	6503	MAGEC3	SO:0001627	intron_variant	0			-	HGNC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1729-23T>A	X.37:g.140985392T>A		Somatic	0	76	0		0.699721091625078				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	Q3SYA7|Q5JZ43|Q9BZ80	Nonsense_Mutation	SNP							pfam_MAGE,pfscan_MAGE	p.Y318*	ENST00000298296.1	37	c.954	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	t	31	5.077330	0.94000	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	.	.	.	1.25	-2.5	0.06384	.	.	.	.	.	.	.	.	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2024	0.03927	0.0:0.2478:0.3165:0.4356	.	.	.	.	X	318;238;318;318	.	.	Y	+	3	2	MAGEC3	140813058	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.848000	0.04326	-0.782000	0.04541	0.235000	0.17854	TAT	-	pfam_MAGE,pfscan_MAGE		0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	protein_coding	OTTHUMT00000058606.1	T	NM_138702	-		140985392	1	no_errors	ENST00000536088	ensembl	human	known	74_37	nonsense	SNP	0.001	A	A	140985392	T	A	140985392	1	1	229	0	1	0	0	0	0	0	0	0	9184	1471	51	5		5	MAGEC3	23	140985392	Intron	SNP	T	TCGA-WP-A9GB-01A-11D-A37C-09	9411849	140985392	14285168	170	18558											
AMY1A	278	genome.wustl.edu	37	chr1	104297408	104297408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtaatgtcaagctaccGttggccaagatattttgaaa	9	7	1	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr1:104297408G>A	ENST00000370079.3	+	7	1137	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	358					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TCAAGCTACCGTTGGCCAAGA	0.323																																																	0								ENSG00000187733																																			AMY1C	SO:0001583	missense	0			-	HGNC		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1073G>A	1.37:g.104297408G>A	ENSP00000359096:p.Arg358His	Somatic	0	19	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	1	90.91	A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP							pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R358H	ENST00000370079.3	37	c.1073	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	G	3.071	-0.191123	0.06299	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	1.23	0.21249	.	0.055619	0.64402	D	0.000002	T	0.35856	0.0946	L	0.45228	1.405	0.50313	D	0.999863	.	.	.	.	.	.	T	0.12319	-1.0552	7	0.22109	T	0.4	.	9.1661	0.37052	0.1186:0.0:0.8814:0.0	.	.	.	.	H	358	.	ENSP00000359096:R358H	R	+	2	0	AMY1C	104098931	0.710000	0.27896	0.524000	0.27887	0.466000	0.32739	2.272000	0.43373	0.228000	0.21019	0.184000	0.17185	CGT	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.323	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	protein_coding	OTTHUMT00000030375.1	G	NM_001008219	-		104297408	1	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	SNP	0.998	A	A	104297408	G	A	104297408	3	1	230	1	0	0	0	0	1	0	0	0	591	1145	40	1	4251	1	AMY1A	1	104297408	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09		104297408	144953213	1	18559											
SYT6	148281	genome.wustl.edu	37	chr1	114646326	114646326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagggagaacatgatctcTcccaagtccacgctttcctg	8	13	1	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr1:114646326T>C	ENST00000610222.1	-	4	1235	c.1089A>G	c.(1087-1089)ggA>ggG	p.G363G	SYT6_ENST00000607941.1_Silent_p.G278G|SYT6_ENST00000609117.1_Silent_p.G278G|SYT6_ENST00000369547.1_Silent_p.G278G|SYT6_ENST00000393296.1_Silent_p.G363G			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	363	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		ACATGATCTCTCCCAAGTCCA	0.557																																																	0								ENSG00000134207						111	78	89					1																	114646326		2203	4300	6503	SYT6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1089A>G	1.37:g.114646326T>C		Somatic	0	48	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	B1AMB8|B3KPK1	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.G363	ENST00000610222.1	37	c.1089		1																																																																																			-	superfamily_C2_dom		0.557	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	protein_coding	OTTHUMT00000314819.2	T	NM_205848	-		114646326	-1	no_errors	ENST00000393296	ensembl	human	known	74_37	silent	SNP	0.716	C	C	114646326	T	C	114646326	2	2	230	1	0	0	0	0	0	0	0	1	15485	1538	54	5		5	SYT6	1	114646326	Silent	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	10348918	114646326	134604295	2	18560											
PGLYRP3	114771	genome.wustl.edu	37	chr1	153270612	153270612	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatttggaggcttttcTgcaaaacacattttccccat	7	11	1	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr1:153270612T>C	ENST00000290722.1	-	7	900		c.e7-2			NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3						defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGCTTTTCTGCAAAACACA	0.532																																																	0								ENSG00000159527						149	138	142					1																	153270612		2203	4300	6503	PGLYRP3	SO:0001630	splice_region_variant	0			-	HGNC	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.848-2A>G	1.37:g.153270612T>C		Somatic	0	87	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A1A4U8|Q5SY65	Splice_Site	SNP							-	e7-2	ENST00000290722.1	37	c.848-2	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	t	12.76	2.035829	0.35893	.	.	ENSG00000159527	ENST00000290722	.	.	.	4.25	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9809	0.24702	0.2022:0.0:0.0:0.7978	.	.	.	.	.	-1	.	.	.	-	.	.	PGLYRP3	151537236	1.000000	0.71417	0.935000	0.37517	0.706000	0.40770	4.378000	0.59568	1.770000	0.52166	0.456000	0.33151	.	-	-		0.532	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	protein_coding	OTTHUMT00000039488.1	T	NM_052891	-	Intron	153270612	-1	no_errors	ENST00000290722	ensembl	human	known	74_37	splice_site	SNP	0.630	C	C	153270612	T	C	153270612	5	2	230	1	0	0	0	0	0	0	1	0	11797	1594	55	5	183	5	PGLYRP3	1	153270612	Splice_Site	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	38624286	153270612	95980009	3	18561											
ETV3L	440695	genome.wustl.edu	37	chr1	157067778	157067778	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaaatagcatgctgtgcagGagctgaggggtgagaagtag	17	5	0	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr1:157067778G>T	ENST00000454449.2	-	4	773	c.489C>A	c.(487-489)ctC>ctA	p.L163L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	163					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGCTGTGCAGGAGCTGAGGGG	0.552																																																	0								ENSG00000253831						58	57	57					1																	157067778		2203	4300	6503	ETV3L	SO:0001819	synonymous_variant	0			-	HGNC	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.489C>A	1.37:g.157067778G>T		Somatic	0	99	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Silent	SNP							pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.L163	ENST00000454449.2	37	c.489	CCDS30893.1	1																																																																																			-	NULL		0.552	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	protein_coding	OTTHUMT00000099024.2	G	NM_001004341	-		157067778	-1	no_errors	ENST00000454449	ensembl	human	known	74_37	silent	SNP	1.000	T	T	157067778	G	T	157067778	2	4	230	1	0	0	0	0	0	0	0	1	5282	1161	41	3		3	ETV3L	1	157067778	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	3797166	157067778	92182843	4	18562											
PTPN7	5778	genome.wustl.edu	37	chr1	202123433	202123433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggcaatgtagacctTctccttcccgtcatagccct	9	14	2	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr1:202123433T>C	ENST00000308986.5	-	6	617	c.487A>G	c.(487-489)Aag>Gag	p.K163E	PTPN7_ENST00000309017.3_Missense_Mutation_p.K268E|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.K202E|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_5'UTR			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	163	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						ATGTAGACCTTCTCCTTCCCG	0.587																																																	0								ENSG00000143851						100	78	86					1																	202123433		2203	4300	6503	PTPN7	SO:0001583	missense	0			-	HGNC	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.487A>G	1.37:g.202123433T>C	ENSP00000311133:p.Lys163Glu	Somatic	0	63	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K268E	ENST00000308986.5	37	c.802		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.53|16.53	3.147887|3.147887	0.57151|0.57151	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000477625|ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061	T|D;D;D;D;D	0.13657|0.83914	2.57|-1.78;-1.78;-1.78;-1.78;-1.78	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.103999	.|0.42294	.|D	.|0.000736	D|D	0.85826|0.85826	0.5787|0.5787	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.48589	.|0.912;0.454;0.669;0.669;0.822	.|P;B;B;B;B	.|0.50860	.|0.652;0.253;0.364;0.364;0.368	D|D	0.87291|0.87291	0.2299|0.2299	7|10	0.72032|0.72032	D|D	0.01|0.01	.|.	11.6607|11.6607	0.51345|0.51345	0.0:0.0:0.1589:0.8411|0.0:0.0:0.1589:0.8411	.|.	.|237;111;115;163;202	.|B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.|.;.;.;PTN7_HUMAN;.	G|E	94|202;268;163;244;162	ENSP00000418129:E94G|ENSP00000356248:K202E;ENSP00000309116:K268E;ENSP00000311133:K163E;ENSP00000418416:K244E;ENSP00000419993:K162E	ENSP00000418129:E94G|ENSP00000311133:K163E	E|K	-|-	2|1	0|0	PTPN7|PTPN7	200390056|200390056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	3.815000|3.815000	0.55651|0.55651	1.890000|1.890000	0.54733|0.54733	0.533000|0.533000	0.62120|0.62120	GAA|AAG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,pfscan_Tyr_Pase_rcpt/non-rcpt		0.587	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	protein_coding		T	NM_002832	-		202123433	-1	no_errors	ENST00000309017	ensembl	human	known	74_37	missense	SNP	0.994	C	C	202123433	T	C	202123433	3	2	230	1	0	0	0	0	1	0	0	0	12801	1792	62	5	615	5	PTPN7	1	202123433	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	45055655	202123433	47127188	5	18563											
LYST	1130	genome.wustl.edu	37	chr1	235929491	235929491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaataattccaaatctggAggagatccaaggacttctgc	9	9	3	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr1:235929491A>G	ENST00000389794.3	-	21	6183	c.6009T>C	c.(6007-6009)ccT>ccC	p.P2003P	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.P2003P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2003					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAAATCTGGAGGAGATCCAA	0.378																																																	0								ENSG00000143669						161	176	171					1																	235929491		2203	4300	6503	LYST	SO:0001819	synonymous_variant	0			-	HGNC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6009T>C	1.37:g.235929491A>G		Somatic	0	36	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2003	ENST00000389794.3	37	c.6009	CCDS31062.1	1																																																																																			-	superfamily_ARM-type_fold		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	protein_coding	OTTHUMT00000097533.5	A		-		235929491	-1	no_errors	ENST00000389793	ensembl	human	known	74_37	silent	SNP	0.999	G	G	235929491	A	G	235929491	2	3	230	1	0	0	0	0	0	0	0	1	9130	291	11	5		5	LYST	1	235929491	Silent	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	33806058	235929491	13321130	6	18564											
ASAP2	8853	genome.wustl.edu	37	chr2	9515060	9515060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacggaaaaaatcccacTggccaacggacatgtaagag	9	10	1	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:9515060T>C	ENST00000281419.3	+	17	2073	c.1733T>C	c.(1732-1734)cTg>cCg	p.L578P	ASAP2_ENST00000315273.4_Missense_Mutation_p.L578P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	578					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAATCCCACTGGCCAACGGA	0.468																																																	0								ENSG00000151693						79	81	80					2																	9515060		2203	4300	6503	ASAP2	SO:0001583	missense	0			-	HGNC	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1733T>C	2.37:g.9515060T>C	ENSP00000281419:p.Leu578Pro	Somatic	0	56	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	13	67.50	D6W4Y8	Missense_Mutation	SNP							pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.L578P	ENST00000281419.3	37	c.1733	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673987	0.67928	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.72725	-0.68;-0.68	5.4	5.4	0.78164	Ankyrin repeat-containing domain (1);	0.217695	0.40385	N	0.001105	T	0.74846	0.3770	L	0.28115	0.83	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.80764	0.817;0.994	T	0.73930	-0.3827	10	0.32370	T	0.25	.	15.4253	0.75045	0.0:0.0:0.0:1.0	.	578;578	O43150-2;O43150	.;ASAP2_HUMAN	P	578	ENSP00000281419:L578P;ENSP00000316404:L578P	ENSP00000281419:L578P	L	+	2	0	ASAP2	9432511	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.002000	0.57053	2.039000	0.60335	0.533000	0.62120	CTG	-	superfamily_Ankyrin_rpt-contain_dom		0.468	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	protein_coding	OTTHUMT00000237522.1	T	NM_003887	-		9515060	1	no_errors	ENST00000281419	ensembl	human	known	74_37	missense	SNP	1.000	C	C	9515060	T	C	9515060	3	2	230	1	0	0	0	0	1	0	0	0	1011	1580	55	5	1799	5	ASAP2	2	9515060	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09		9515060	233684313	7	18565											
ETAA1	54465	genome.wustl.edu	37	chr2	67631536	67631539	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													actagtgcatcaaaagtaggTtctttctttgatgattggaa							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:67631536_67631539delTTCT	ENST00000272342.5	+	5	1852_1855	c.1722_1725delTTCT	c.(1720-1725)ggttctfs	p.GS574fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	574						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CAAAAGTAGGTTCTTTCTTTGATG	0.358																																																	0								ENSG00000143971																																			ETAA1	SO:0001589	frameshift_variant	0				HGNC	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1722_1725delTTCT	2.37:g.67631540_67631543delTTCT	ENSP00000272342:p.Gly574fs	Somatic	0	20	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q05BT7|Q53SC4	Frame_Shift_Del	DEL							NULL	p.F576fs	ENST00000272342.5	37	c.1722_1725	CCDS1882.1	2																																																																																			-	NULL		0.358	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	protein_coding	OTTHUMT00000251735.1	TTCT	NM_019002			67631539	1	no_errors	ENST00000272342	ensembl	human	known	74_37	frame_shift_del	DEL	0.011:0.116:0.932:0.987	-	-	67631539	TTCT	-	67631536	7	5	230	1	0	1	0	1	0	0	0	0	5269	1712	60	0	1740	0	ETAA1	2	67631536	Frame_Shift_Del	DEL	TTCT	TCGA-X2-A95T-01A-11D-A37C-09	58116476	67631536	175567837	8	18566											
TEX261	113419	genome.wustl.edu	37	chr2	71215822	71215822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccccgcttgcctttggTgaaataattggagacgacat	10	9	0	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:71215822T>C	ENST00000272438.4	-	6	686	c.499A>G	c.(499-501)Acc>Gcc	p.T167A	TEX261_ENST00000466731.1_5'UTR|AC007040.11_ENST00000606025.1_Intron	NM_144582.2	NP_653183.2	Q6UWH6	TX261_HUMAN	testis expressed 261	167						integral component of membrane (GO:0016021)				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TTGCCTTTGGTGAAATAATTG	0.498																																																	0								ENSG00000144043						115	106	109					2																	71215822		2203	4300	6503	TEX261	SO:0001583	missense	0			-	HGNC	AL832385	CCDS1914.1	2p13.3	2013-09-24	2007-03-13		ENSG00000144043	ENSG00000144043			30712	protein-coding gene	gene with protein product			"testis expressed sequence 261"			9464256	Standard	NM_144582		Approved	MGC32043, TEG-261	uc002shn.3	Q6UWH6	OTTHUMG00000129708	ENST00000272438.4:c.499A>G	2.37:g.71215822T>C	ENSP00000272438:p.Thr167Ala	Somatic	0	48	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A1A587|D6W5G9|Q8WUJ5	Missense_Mutation	SNP							pfam_Transmembrane_adaptor_Erv26	p.T167A	ENST00000272438.4	37	c.499	CCDS1914.1	2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893443	0.33442	.	.	ENSG00000144043	ENST00000272438	.	.	.	5.5	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	N	0.16201	0.385	0.58432	D	0.999997	P	0.51147	0.942	P	0.54210	0.745	T	0.19976	-1.0289	9	0.15499	T	0.54	-19.2233	11.2362	0.48942	0.0:0.0:0.1535:0.8465	.	167	Q6UWH6	TX261_HUMAN	A	167	.	ENSP00000272438:T167A	T	-	1	0	TEX261	71069330	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.252000	0.78309	1.023000	0.39654	0.533000	0.62120	ACC	-	pfam_Transmembrane_adaptor_Erv26		0.498	TEX261-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX261	protein_coding	OTTHUMT00000251916.1	T	NM_144582	-		71215822	-1	no_errors	ENST00000272438	ensembl	human	known	74_37	missense	SNP	1.000	C	C	71215822	T	C	71215822	3	2	230	1	0	0	0	0	1	0	0	0	15789	1696	59	5	95	5	TEX261	2	71215822	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	3584286	71215822	171983551	9	18567											
TMEM131	23505	genome.wustl.edu	37	chr2	98409102	98409102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagggtgctgctccagCgggctgtgggcatggtgctg	20	9	0	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:98409102C>T	ENST00000186436.5	-	31	4119	c.3891G>A	c.(3889-3891)ccG>ccA	p.P1297P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1297	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCTGCTCCAGCGGGCTGTGGG	0.642																																																	0								ENSG00000075568						29	33	31					2																	98409102		2162	4276	6438	TMEM131	SO:0001819	synonymous_variant	0			-	HGNC	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3891G>A	2.37:g.98409102C>T		Somatic	0	56	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Silent	SNP							pfam_DUF3651_TMEM131	p.P1297	ENST00000186436.5	37	c.3891	CCDS46368.1	2																																																																																			-	NULL		0.642	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	protein_coding	OTTHUMT00000329285.2	C	XM_371542	-		98409102	-1	no_errors	ENST00000186436	ensembl	human	known	74_37	silent	SNP	0.000	T	T	98409102	C	T	98409102	2	4	230	1	0	0	0	0	0	0	0	1	16051	755	27	1		1	TMEM131	2	98409102	Silent	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	27193280	98409102	144790271	10	18568											
UGGT1	56886	genome.wustl.edu	37	chr2	128900693	128900694	+	Frame_Shift_Del	DEL	AA	AA	-													taacaaggtgaggactggagAaaaagtgaaagttgaacatg					rs142665549	byFrequency	TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:128900693_128900694delAA	ENST00000259253.6	+	17	1792_1793	c.1745_1746delAA	c.(1744-1746)gaafs	p.E582fs	UGGT1_ENST00000375990.3_Frame_Shift_Del_p.E558fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	582					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGACTGGAGAAAAAGTGAAAG	0.351																																																	0								ENSG00000136731																																			UGGT1	SO:0001589	frameshift_variant	0				HGNC	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1745_1746delAA	2.37:g.128900695_128900696delAA	ENSP00000259253:p.Glu582fs	Somatic	0	99	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Frame_Shift_Del	DEL							pfam_UDP-g_GGtrans	p.K583fs	ENST00000259253.6	37	c.1745_1746	CCDS2154.1	2																																																																																			-	NULL		0.351	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	protein_coding	OTTHUMT00000254435.2	AA	NM_020120			128900694	1	no_errors	ENST00000259253	ensembl	human	known	74_37	frame_shift_del	DEL	0.996:0.531	-	-	128900694	AA	-	128900693	7	5	230	1	0	1	0	1	0	0	0	0	16948	246	9	0	1811	0	UGGT1	2	128900693	Frame_Shift_Del	DEL	AA	TCGA-X2-A95T-01A-11D-A37C-09	30491591	128900693	114298680	11	18569											
STK36	27148	genome.wustl.edu	37	chr2	219563973	219563973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagtgcgaagtaccccagCggctcctagaaatggcatgt	11	11	0	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:219563973C>T	ENST00000295709.3	+	26	3985	c.3706C>T	c.(3706-3708)Cgg>Tgg	p.R1236W	STK36_ENST00000392106.2_Missense_Mutation_p.R1215W|STK36_ENST00000440309.1_Missense_Mutation_p.R1236W|STK36_ENST00000392105.3_Missense_Mutation_p.R1215W	NM_015690.4	NP_056505.2			serine/threonine kinase 36											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)		AGTACCCCAGCGGCTCCTAGA	0.582																																																	0								ENSG00000163482						49	52	51					2																	219563973		2203	4300	6503	STK36	SO:0001583	missense	0			-	HGNC	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.3706C>T	2.37:g.219563973C>T	ENSP00000295709:p.Arg1236Trp	Somatic	0	42	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	9	52.63		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1236W	ENST00000295709.3	37	c.3706	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202376	0.58234	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.77	3.82	0.43975	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.41396	D	0.000900	T	0.34193	0.0889	L	0.50333	1.59	0.30901	N	0.729324	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.981;0.978;0.928	T	0.30031	-0.9992	10	0.66056	D	0.02	-24.276	13.47	0.61278	0.4064:0.5936:0.0:0.0	.	1215;1215;1236	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	W	1236;1215;1215;1236	ENSP00000295709:R1236W;ENSP00000375955:R1215W;ENSP00000375954:R1215W;ENSP00000394095:R1236W	ENSP00000295709:R1236W	R	+	1	2	STK36	219272217	0.027000	0.19231	1.000000	0.80357	0.846000	0.48090	-0.202000	0.09451	1.385000	0.46445	0.561000	0.74099	CGG	-	superfamily_ARM-type_fold		0.582	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	protein_coding	OTTHUMT00000256723.2	C		-		219563973	1	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	SNP	0.994	T	T	219563973	C	T	219563973	3	4	230	1	0	0	0	0	1	0	0	0	15309	759	27	1	3804	1	STK36	2	219563973	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	90663280	219563973	23635400	12	18570											
SCG2	7857	genome.wustl.edu	37	chr2	224462494	224462494	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccaagtactcacctaattCttgatccttgtcgttcaggt	8	11	3	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr2:224462494C>A	ENST00000305409.2	-	2	1739	c.1507G>T	c.(1507-1509)Gaa>Taa	p.E503*		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCACCTAATTCTTGATCCTTG	0.438																																																	0								ENSG00000171951						178	152	161					2																	224462494		2203	4300	6503	SCG2	SO:0001587	stop_gained	0			-	HGNC	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1507G>T	2.37:g.224462494C>A	ENSP00000304133:p.Glu503*	Somatic	0	62	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP							pfam_Granin	p.E503*	ENST00000305409.2	37	c.1507	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.899815	0.97920	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	.	.	.	5.77	5.77	0.91146	.	0.173184	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.9913	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	503;363	.	ENSP00000304133:E503X	E	-	1	0	SCG2	224170738	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.462000	0.66707	2.734000	0.93682	0.585000	0.79938	GAA	-	pfam_Granin		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	protein_coding	OTTHUMT00000256870.2	C	NM_003469	-		224462494	-1	no_errors	ENST00000305409	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	224462494	C	A	224462494	4	1	230	1	0	0	0	0	0	1	0	0	13899	922	32	3	350	3	SCG2	2	224462494	Nonsense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	4898521	224462494	18736879	13	18571											
TADA3	10474	genome.wustl.edu	37	chr3	9827049	9827050	+	Frame_Shift_Del	DEL	CT	CT	-													ggtgcttgccccgtcagcccCtgattctttcccagacatgt					rs377606064		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:9827049_9827050delCT	ENST00000301964.2	-	7	1428_1429	c.870_871delAG	c.(868-873)tcagggfs	p.G291fs	TADA3_ENST00000343450.2_Frame_Shift_Del_p.G291fs|TADA3_ENST00000440161.1_Frame_Shift_Del_p.G291fs	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	291					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCGTCAGCCCCTGATTCTTTCC	0.5																																																	0								ENSG00000171148																																			TADA3	SO:0001589	frameshift_variant	0				HGNC	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.870_871delAG	3.37:g.9827049_9827050delCT	ENSP00000307684:p.Gly291fs	Somatic	0	85	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	Q6FI83|Q9UFS2	Frame_Shift_Del	DEL							pfam_Histone_AcTrfase_su3	p.A292fs	ENST00000301964.2	37	c.871_870	CCDS2583.1	3																																																																																			-	NULL		0.5	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	protein_coding	OTTHUMT00000250236.1	CT				9827050	-1	no_errors	ENST00000301964	ensembl	human	known	74_37	frame_shift_del	DEL	0.617:0.028	-	-	9827050	CT	-	9827049	7	5	230	1	0	1	0	1	0	0	0	0	15519	681	24	0	443	0	TADA3	3	9827049	Frame_Shift_Del	DEL	CT	TCGA-X2-A95T-01A-11D-A37C-09		9827049	188195381	14	18572											
RARB	5915	genome.wustl.edu	37	chr3	25622051	25622051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctagaattccagtgctgaCcatcgagtccgactggacct	9	13	0	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:25622051C>A	ENST00000404969.1	+	5	645	c.645C>A	c.(643-645)gaC>gaA	p.D215E	RARB_ENST00000458646.1_Missense_Mutation_p.D96E|RARB_ENST00000330688.4_Missense_Mutation_p.D208E|RARB_ENST00000437042.2_Missense_Mutation_p.D96E|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	215	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAGTGCTGACCATCGAGTCC	0.473																																																	0								ENSG00000077092						93	86	88					3																	25622051		2203	4300	6503	RARB	SO:0001583	missense	0			-	HGNC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.645C>A	3.37:g.25622051C>A	ENSP00000385865:p.Asp215Glu	Somatic	0	56	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	15	57.14	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.D215E	ENST00000404969.1	37	c.645		3	.	.	.	.	.	.	.	.	.	.	C	7.954	0.745542	0.15710	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.2	1.93	0.25924	Nuclear hormone receptor, ligand-binding (2);	0.049752	0.85682	D	0.000000	T	0.14614	0.0353	N	0.05078	-0.115	0.38228	D	0.940943	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08700	-1.0709	10	0.20519	T	0.43	.	6.4962	0.22144	0.0:0.5023:0.2643:0.2334	.	215;208	P10826;F1D8S6	RARB_HUMAN;.	E	215;215;215;96;208;96	ENSP00000373282:D215E;ENSP00000385865:D215E;ENSP00000398840:D96E;ENSP00000332296:D208E;ENSP00000391391:D96E	ENSP00000332296:D208E	D	+	3	2	RARB	25597055	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.938000	0.28965	0.588000	0.29660	-0.440000	0.05779	GAC	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.473	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		C	NM_000965, NM_016152	-		25622051	1	no_errors	ENST00000404969	ensembl	human	known	74_37	missense	SNP	0.997	A	A	25622051	C	A	25622051	3	1	230	1	0	0	0	0	1	0	0	0	13061	506	18	3	642	3	RARB	3	25622051	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	15795002	25622051	172400379	15	18573											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133104	119133134	+	Frame_Shift_Del	DEL	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC	-													gaagtaggaggcccaggcaaTctgtctcctccactcccacc					rs368591462|rs183837502|rs139659618	byFrequency	TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:119133104_119133134delTCTGTCTCCTCCACTCCCACCTGCTCCTCCC	ENST00000264245.4	+	12	2860_2890	c.2328_2358delTCTGTCTCCTCCACTCCCACCTGCTCCTCCC	c.(2326-2358)aatctgtctcctccactcccacctgctcctcccfs	p.NLSPPLPPAPP776fs		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCAGGCAATCTGTCTCCTCCACTCCCACCTGCTCCTCCCCCTCCAACTC	0.558																																					Pancreas(7;176 297 5394 51128 51241)												0								ENSG00000031081																																			ARHGAP31	SO:0001589	frameshift_variant	0				HGNC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2328_2358delTCTGTCTCCTCCACTCCCACCTGCTCCTCCC	3.37:g.119133104_119133134delTCTGTCTCCTCCACTCCCACCTGCTCCTCCC	ENSP00000264245:p.Asn776fs	Somatic					0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q9ULL6	Frame_Shift_Del	DEL							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S778fs	ENST00000264245.4	37	c.2328_2358	CCDS43135.1	3																																																																																			-	NULL		0.558	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC				119133134	1	no_errors	ENST00000264245	ensembl	human	known	74_37	frame_shift_del	DEL	0.057:0.059:0.035:0.024:0.028:0.051:0.004:0.013:0.021:0.004:0.002:0.000:0.000:0.004:0.007:0.006:0.007:0.007:0.006:0.919:0.985:0.990:1.000:1.000:0.998:0.987:1.000:0.998:1.000:1.000:0.990	-	-	119133134	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC	-	119133104	7	5	230	1	0	1	0	1	0	0	0	0	880	1432	50	0	2374	0	ARHGAP31	3	119133104	Frame_Shift_Del	DEL	TCTGTCTCCTCCACTCCCACCTGCTCCTCCC	TCGA-X2-A95T-01A-11D-A37C-09	93511053	119133104	78889326	16	18574											
CPA3	1359	genome.wustl.edu	37	chr3	148599387	148599387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacattcttcctgtgttcAatgttgatggatatatttgg	8	5	2	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:148599387A>G	ENST00000296046.3	+	7	707	c.655A>G	c.(655-657)Aat>Gat	p.N219D	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	219					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.N219D(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCTGTGTTCAATGTTGATGG	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000163751						130	122	125					3																	148599387		2203	4300	6503	CPA3	SO:0001583	missense	0			-	HGNC		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.655A>G	3.37:g.148599387A>G	ENSP00000296046:p.Asn219Asp	Somatic	0	55	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q96E94	Missense_Mutation	SNP							pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.N219D	ENST00000296046.3	37	c.655	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497334	0.85069	.	.	ENSG00000163751	ENST00000296046	T	0.71341	-0.56	5.06	5.06	0.68205	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	H	0.98005	4.125	0.58432	D	0.999999	D	0.69078	0.997	D	0.71656	0.974	D	0.92991	0.6415	10	0.87932	D	0	.	13.9293	0.63983	1.0:0.0:0.0:0.0	.	219	P15088	CBPA3_HUMAN	D	219	ENSP00000296046:N219D	ENSP00000296046:N219D	N	+	1	0	CPA3	150082077	1.000000	0.71417	0.963000	0.40424	0.987000	0.75469	7.533000	0.81994	2.111000	0.64477	0.533000	0.62120	AAT	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.348	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	protein_coding	OTTHUMT00000355974.1	A	NM_001870	-		148599387	1	no_errors	ENST00000296046	ensembl	human	known	74_37	missense	SNP	1.000	G	G	148599387	A	G	148599387	3	3	230	1	0	0	0	0	1	0	0	0	3793	130	5	5	681	5	CPA3	3	148599387	Missense_Mutation	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	29466283	148599387	49423043	17	18575											
TSC22D2	9819	genome.wustl.edu	37	chr3	150128722	150128722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccacttctgttactatgCcaaatgtacccgcgcctctg	6	15	2	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:150128722C>T	ENST00000361875.3	+	1	2601	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P529S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	529					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGTTACTATGCCAAATGTACC	0.612																																																	0								ENSG00000196428						59	61	60					3																	150128722		2203	4300	6503	TSC22D2	SO:0001583	missense	0			-	HGNC	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1585C>T	3.37:g.150128722C>T	ENSP00000354543:p.Pro529Ser	Somatic	0	58	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	20	47.37	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP							pfam_TSC-22_Dip_Bun	p.P529S	ENST00000361875.3	37	c.1585	CCDS3149.1	3	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097662	0.56075	.	.	ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136	T;T	0.39229	1.13;1.09	4.56	2.77	0.32553	.	0.000000	0.50627	D	0.000111	T	0.47948	0.1473	L	0.32530	0.975	0.36424	D	0.864463	D;D	0.67145	0.996;0.994	D;P	0.67382	0.951;0.895	T	0.52801	-0.8527	10	0.48119	T	0.1	.	10.2395	0.43303	0.0:0.8354:0.0:0.1646	.	529;529	O75157-2;O75157	.;T22D2_HUMAN	S	2;529;529	ENSP00000354543:P529S;ENSP00000354893:P529S	ENSP00000354893:P529S	P	+	1	0	TSC22D2	151611412	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	2.794000	0.47853	0.383000	0.24910	0.563000	0.77884	CCA	-	NULL		0.612	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	protein_coding	OTTHUMT00000357123.2	C	NM_014779	-		150128722	1	no_errors	ENST00000361875	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150128722	C	T	150128722	3	4	230	1	0	0	0	0	1	0	0	0	16615	739	26	2	1587	2	TSC22D2	3	150128722	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	1529335	150128722	47893708	18	18576											
SHOX2	6474	genome.wustl.edu	37	chr3	157816014	157816014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgtgcgcggccaggtgCggatgcaggtggtggtgcgc	22	10	0	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:157816014C>T	ENST00000425436.3	-	5	823	c.798G>A	c.(796-798)ccG>ccA	p.P266P	SHOX2_ENST00000389589.4_Silent_p.P290P|SHOX2_ENST00000483851.2_Silent_p.P254P|SHOX2_ENST00000441443.2_Silent_p.P125P|SHOX2_ENST00000490689.2_Silent_p.P125P	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	266					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGCCAGGTGCGGATGCAGGT	0.672																																																	0								ENSG00000168779						59	63	61					3																	157816014		2203	4298	6501	SHOX2	SO:0001819	synonymous_variant	0			-	HGNC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"Homeoboxes / PRD class"	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.798G>A	3.37:g.157816014C>T		Somatic	0	37	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O60465|O60467|O60903	Silent	SNP							pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.P290	ENST00000425436.3	37	c.870	CCDS43164.1	3	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069828	0.36566	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.12	4.2	0.49525	.	.	.	.	.	T	0.53077	0.1774	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50381	-0.8835	4	.	.	.	.	4.666	0.12666	0.1708:0.6359:0.0:0.1933	.	.	.	.	H	157	.	.	R	-	2	0	SHOX2	159298708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.864000	0.27926	1.181000	0.42912	-0.345000	0.07892	CGC	-	NULL		0.672	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHOX2	protein_coding	OTTHUMT00000352057.2	C		-		157816014	-1	no_errors	ENST00000389589	ensembl	human	known	74_37	silent	SNP	1.000	T	T	157816014	C	T	157816014	2	4	230	1	0	0	0	0	0	0	0	1	14297	755	27	1		1	SHOX2	3	157816014	Silent	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	7687292	157816014	40206416	19	18577											
KCNMB3	27094	genome.wustl.edu	37	chr3	178968712	178968712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttcttccctgaggcagGaaaggctgtcctttggggaa	12	10	2	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:178968712G>A	ENST00000314235.5	-	2	590	c.79C>T	c.(79-81)Cct>Tct	p.P27S	KCNMB3_ENST00000497599.1_Missense_Mutation_p.P25S|KCNMB3_ENST00000392685.2_Missense_Mutation_p.P23S|KCNMB3_ENST00000349697.2_Missense_Mutation_p.P25S|KCNMB3_ENST00000485523.1_Missense_Mutation_p.P5S	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	27					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	CCTGAGGCAGGAAAGGCTGTC	0.522																																																	0								ENSG00000171121						116	108	111					3																	178968712		2203	4300	6503	KCNMB3	SO:0001583	missense	0			-	HGNC	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.79C>T	3.37:g.178968712G>A	ENSP00000319370:p.Pro27Ser	Somatic	0	45	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	24	48.94	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP							pfam_K_chnl_Ca-activ_BK_bsu	p.P27S	ENST00000314235.5	37	c.79	CCDS3226.1	3	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702789	0.15172	.	.	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	T;T;T;T;T	0.16597	2.33;3.09;3.06;3.09;3.03	6.07	-2.26	0.06867	.	1.472700	0.04038	N	0.302650	T	0.04724	0.0128	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.12630	0.0;0.001;0.001;0.006;0.003	B;B;B;B;B	0.10450	0.001;0.003;0.003;0.005;0.002	T	0.27606	-1.0069	10	0.02654	T	1	-11.5657	2.8077	0.05432	0.3266:0.1341:0.4086:0.1307	.	25;25;5;23;27	E9PER5;Q9NPA1-2;Q9NPA1-4;Q9NPA1-3;Q9NPA1	.;.;.;.;KCMB3_HUMAN	S	25;23;25;27;5	ENSP00000417091:P25S;ENSP00000376451:P23S;ENSP00000327866:P25S;ENSP00000319370:P27S;ENSP00000418536:P5S	ENSP00000319370:P27S	P	-	1	0	KCNMB3	180451406	0.006000	0.16342	0.000000	0.03702	0.636000	0.38137	-0.235000	0.09016	-0.622000	0.05626	0.650000	0.86243	CCT	-	NULL		0.522	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	KCNMB3	protein_coding	OTTHUMT00000348484.1	G		-		178968712	-1	no_errors	ENST00000314235	ensembl	human	known	74_37	missense	SNP	0.002	A	A	178968712	G	A	178968712	3	1	230	1	0	0	0	0	1	0	0	0	8078	1174	41	2	845	2	KCNMB3	3	178968712	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	21152698	178968712	19053718	20	18578											
VPS8	23355	genome.wustl.edu	37	chr3	184689503	184689503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccattgctctttgccAgagaaattcacataatttga	8	8	2	3	rs556078456		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr3:184689503A>G	ENST00000437079.3	+	40	3554	c.3383A>G	c.(3382-3384)cAg>cGg	p.Q1128R	VPS8_ENST00000436792.2_Missense_Mutation_p.Q1126R|VPS8_ENST00000446204.2_Missense_Mutation_p.Q1036R|VPS8_ENST00000287546.4_Missense_Mutation_p.Q1128R	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1128							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCTCTTTGCCAGAGAAATTCA	0.413													A|||	1	0.000199681	8e-04	0	5008	,	,		17021	0		0	False		,,,				2504	0																0								ENSG00000156931						111	106	107					3																	184689503		1901	4126	6027	VPS8	SO:0001583	missense	0			-	HGNC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3383A>G	3.37:g.184689503A>G	ENSP00000397879:p.Gln1128Arg	Somatic	0	57	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP							superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1128R	ENST00000437079.3	37	c.3383	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317056	0.60524	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.22336	1.96;1.96;1.96;1.97	6.06	6.06	0.98353	Quinonprotein alcohol dehydrogenase-like (1);	0.106857	0.64402	D	0.000003	T	0.46776	0.1410	M	0.82517	2.595	0.43271	D	0.995224	P;D;P	0.59767	0.872;0.986;0.952	B;D;P	0.64042	0.396;0.921;0.677	T	0.43491	-0.9388	10	0.33940	T	0.23	-5.0819	14.1325	0.65263	1.0:0.0:0.0:0.0	.	1128;1036;1126	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	R	1128;1128;1126;1036	ENSP00000287546:Q1128R;ENSP00000397879:Q1128R;ENSP00000404704:Q1126R;ENSP00000405483:Q1036R	ENSP00000287546:Q1128R	Q	+	2	0	VPS8	186172197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	2.324000	0.78689	0.533000	0.62120	CAG	-	superfamily_Quinonprotein_ADH-like_supfam		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	protein_coding		A	NM_015303	-		184689503	1	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	SNP	1.000	G	G	184689503	A	G	184689503	3	3	230	1	0	0	0	0	1	0	0	0	17225	188	7	5	3533	5	VPS8	3	184689503	Missense_Mutation	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	5720791	184689503	13332927	21	18579											
LETM1	3954	genome.wustl.edu	37	chr4	1824837	1824837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccctccacctcggccaCtttcacctgtgcttcctttg	6	19	1	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:1824837C>T	ENST00000302787.2	-	9	1650	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	452					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCTCGGCCACTTTCACCTGT	0.632																																																	0								ENSG00000168924						101	96	97					4																	1824837		2203	4300	6503	LETM1	SO:0001583	missense	0			-	HGNC	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1354G>A	4.37:g.1824837C>T	ENSP00000305653:p.Val452Met	Somatic	0	65	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	6	62.50	B4DED2|Q9UF65	Missense_Mutation	SNP							pfam_LETM1,pfscan_EF_hand_dom	p.V452M	ENST00000302787.2	37	c.1354	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423647	0.62733	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.87	4.87	0.63330	.	0.537879	0.19531	N	0.112059	T	0.61311	0.2337	L	0.51422	1.61	0.49915	D	0.999839	D	0.53885	0.963	P	0.47673	0.554	T	0.67296	-0.5706	9	0.72032	D	0.01	-12.6623	17.9976	0.89188	0.0:1.0:0.0:0.0	.	452	O95202	LETM1_HUMAN	M	452	.	ENSP00000305653:V452M	V	-	1	0	LETM1	1794635	0.985000	0.35326	0.413000	0.26509	0.136000	0.21042	7.344000	0.79328	2.242000	0.73789	0.491000	0.48974	GTG	-	NULL		0.632	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	protein_coding	OTTHUMT00000241634.1	C		-		1824837	-1	no_errors	ENST00000302787	ensembl	human	known	74_37	missense	SNP	0.993	T	T	1824837	C	T	1824837	3	4	230	1	0	0	0	0	1	0	0	0	8736	565	20	2	889	2	LETM1	4	1824837	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09		1824837	189329439	22	18580											
SLC30A9	10463	genome.wustl.edu	37	chr4	42041023	42041024	+	Frame_Shift_Del	DEL	AG	AG	-													ccacgctccagaacagcatcAgtgttttttaagggaccagg							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:42041023_42041024delAG	ENST00000264451.7	+	8	870_871	c.690_691delAG	c.(688-693)tcagtgfs	p.V231fs		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	231					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAACAGCATCAGTGTTTTTTAA	0.347																																																	0								ENSG00000014824																																			SLC30A9	SO:0001589	frameshift_variant	0				HGNC	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.690_691delAG	4.37:g.42041023_42041024delAG	ENSP00000264451:p.Val231fs	Somatic	0	158	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Frame_Shift_Del	DEL							pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.F233fs	ENST00000264451.7	37	c.690_691	CCDS3465.1	4																																																																																			-	NULL		0.347	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	protein_coding	OTTHUMT00000216842.3	AG				42041024	1	no_errors	ENST00000264451	ensembl	human	known	74_37	frame_shift_del	DEL	0.990:0.999	-	-	42041024	AG	-	42041023	7	5	230	1	0	1	0	1	0	0	0	0	14570	175	7	0	720	0	SLC30A9	4	42041023	Frame_Shift_Del	DEL	AG	TCGA-X2-A95T-01A-11D-A37C-09	40216186	42041023	149113253	23	18581											
ATP10D	57205	genome.wustl.edu	37	chr4	47593241	47593241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcaagtcaggaagaagacCcatgcctggcccttctgctg	12	12	2	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:47593241C>A	ENST00000273859.3	+	23	4393	c.4124C>A	c.(4123-4125)cCc>cAc	p.P1375H		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1375					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGAAGAAGACCCATGCCTGGC	0.458																																																	0								ENSG00000145246						136	135	135					4																	47593241		2203	4300	6503	ATP10D	SO:0001583	missense	0			-	HGNC	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4124C>A	4.37:g.47593241C>A	ENSP00000273859:p.Pro1375His	Somatic	0	38	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.P1375H	ENST00000273859.3	37	c.4124	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641629	0.29157	.	.	ENSG00000145246	ENST00000273859	T	0.38240	1.15	4.7	1.89	0.25635	.	1.594970	0.03799	N	0.264120	T	0.31513	0.0799	L	0.54323	1.7	0.09310	N	1	B	0.33379	0.41	B	0.28305	0.088	T	0.36986	-0.9725	10	0.62326	D	0.03	-6.6414	2.7824	0.05364	0.1475:0.5354:0.1437:0.1734	.	1375	Q9P241	AT10D_HUMAN	H	1375	ENSP00000273859:P1375H	ENSP00000273859:P1375H	P	+	2	0	ATP10D	47287998	0.000000	0.05858	0.014000	0.15608	0.056000	0.15407	0.629000	0.24538	1.185000	0.42971	0.460000	0.39030	CCC	-	NULL		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	protein_coding	OTTHUMT00000216900.1	C	NM_020453	-		47593241	1	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	SNP	0.000	A	A	47593241	C	A	47593241	3	1	230	1	0	0	0	0	1	0	0	0	1118	623	22	3	4210	3	ATP10D	4	47593241	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	5552218	47593241	143561035	24	18582											
C4orf40	401137	genome.wustl.edu	37	chr4	71024318	71024318	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgtccctccttcaaggTttttttcagcagctgcagca	8	12	2	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:71024318T>A	ENST00000344526.5	+	3	538	c.349T>A	c.(349-351)Ttt>Att	p.F117I	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.F117I	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		117	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTTCAAGGTTTTTTTCAGC	0.547																																																	0								ENSG00000187533						148	152	151					4																	71024318		2203	4300	6503	C4orf40	SO:0001583	missense	0			-	HGNC																												ENST00000344526.5:c.349T>A	4.37:g.71024318T>A	ENSP00000343172:p.Phe117Ile	Somatic	0	56	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	25	40.48	A8MXP0|Q6MZR6	Missense_Mutation	SNP							NULL	p.F117I	ENST00000344526.5	37	c.349	CCDS3535.1	4	.	.	.	.	.	.	.	.	.	.	T	2.451	-0.326363	0.05350	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.27890	1.64;1.64	2.91	-4.36	0.03645	.	.	.	.	.	T	0.08179	0.0204	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23619	-1.0183	9	0.32370	T	0.25	9.0E-4	0.3708	0.00379	0.2991:0.1896:0.13:0.3813	.	117	Q6MZM9	CD040_HUMAN	I	117	ENSP00000426249:F117I;ENSP00000343172:F117I	ENSP00000343172:F117I	F	+	1	0	C4orf40	71058907	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.424000	0.07025	-0.459000	0.07013	-2.739000	0.00128	TTT	-	NULL		0.547	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf40	protein_coding	OTTHUMT00000251558.1	T		-		71024318	1	no_errors	ENST00000344526	ensembl	human	known	74_37	missense	SNP	0.000	A	A	71024318	T	A	71024318	3	1	230	1	0	0	0	0	1	0	0	0	2271	1725	60	5	359	5	C4orf40	4	71024318	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	23431077	71024318	120129958	25	18583											
AFM	173	genome.wustl.edu	37	chr4	74347514	74347514	+	Frame_Shift_Del	DEL	G	G	-													tgaaactactaaaacttacaGgttttatttttttcttgttt							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:74347514delG	ENST00000226355.3	+	1	115	c.22delG	c.(22-24)ggtfs	p.G8fs		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	8					vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAACTTACAGGTTTTATTTT	0.308																																																	0								ENSG00000079557						37	40	39					4																	74347514		2190	4277	6467	AFM	SO:0001589	frameshift_variant	0				HGNC	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.22delG	4.37:g.74347514delG	ENSP00000226355:p.Gly8fs	Somatic	0	99	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	35	31.37	A8K3E1|Q32MR3|Q4W5C5	Frame_Shift_Del	DEL							pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein	p.G8fs	ENST00000226355.3	37	c.22	CCDS3557.1	4																																																																																			-	pirsf_Serum_albumin/AFP		0.308	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	protein_coding	OTTHUMT00000252275.2	G				74347514	1	no_errors	ENST00000226355	ensembl	human	known	74_37	frame_shift_del	DEL	0.856	-	-	74347514	G	-	74347514	7	5	230	1	0	1	0	1	0	0	0	0	361	1000	35	0	24	0	AFM	4	74347514	Frame_Shift_Del	DEL	G	TCGA-X2-A95T-01A-11D-A37C-09	3323196	74347514	116806762	26	18584											
ODZ3	55714	genome.wustl.edu	37	chr4	183650181	183650181	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgccagaatcagccctAttgtcggggactgccggatc	11	13	1	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:183650181A>C	ENST00000511685.1	+	14	2555	c.2432A>C	c.(2431-2433)tAt>tCt	p.Y811S	TENM3_ENST00000406950.2_Missense_Mutation_p.Y811S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	811					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)										AATCAGCCCTATTGTCGGGGA	0.478																																																	0								ENSG00000218336						84	81	82					4																	183650181		1933	4153	6086	TENM3	SO:0001583	missense	0			-	HGNC	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.2432A>C	4.37:g.183650181A>C	ENSP00000424226:p.Tyr811Ser	Somatic	0	72	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	24	54.72	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Y811S	ENST00000511685.1	37	c.2432	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	A	9.129	1.010874	0.19277	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.10668	2.85;2.85	5.14	2.61	0.31194	.	.	.	.	.	T	0.06005	0.0156	N	0.11892	0.195	0.53688	D	0.99997	B	0.06786	0.001	B	0.04013	0.001	T	0.27468	-1.0073	9	0.62326	D	0.03	.	7.0216	0.24916	0.6073:0.1346:0.0:0.258	.	811	Q9P273	TEN3_HUMAN	S	811	ENSP00000424226:Y811S;ENSP00000385276:Y811S	ENSP00000385276:Y811S	Y	+	2	0	ODZ3	183887175	1.000000	0.71417	0.990000	0.47175	0.400000	0.30750	3.193000	0.50997	0.383000	0.24910	0.460000	0.39030	TAT	-	NULL		0.478	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	A		-		183650181	1	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	SNP	1.000	C	C	183650181	A	C	183650181	3	2	230	1	0	0	0	0	1	0	0	0	10838	449	16	5	2482	5	ODZ3	4	183650181	Missense_Mutation	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	109302667	183650181	7504095	27	18585											
MLF1IP	79682	genome.wustl.edu	37	chr4	185652114	185652114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctaaagtgttctttgaaCgtcttgcgctattaaacagc	7	8	3	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr4:185652114C>T	ENST00000281453.5	-	2	126	c.56G>A	c.(55-57)cGt>cAt	p.R19H	MLF1IP_ENST00000541971.1_Missense_Mutation_p.R19H	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTTCTTTGAACGTCTTGCGCT	0.323																																																	0								ENSG00000151725						109	102	104					4																	185652114		2202	4298	6500	MLF1IP	SO:0001583	missense	0			-	HGNC																												ENST00000281453.5:c.56G>A	4.37:g.185652114C>T	ENSP00000281453:p.Arg19His	Somatic	0	86	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60		Missense_Mutation	SNP							NULL	p.R19H	ENST00000281453.5	37	c.56	CCDS3838.1	4	.	.	.	.	.	.	.	.	.	.	c	3.081	-0.188996	0.06299	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971	T;T	0.14766	2.5;2.48	4.09	-8.18	0.01053	.	3.824880	0.00520	N	0.000191	T	0.05593	0.0147	N	0.12182	0.205	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.30387	-0.9980	10	0.12430	T	0.62	-15.7673	3.2582	0.06839	0.0982:0.2218:0.398:0.282	.	19;19	Q09GN1;Q71F23	.;CENPU_HUMAN	H	19	ENSP00000281453:R19H;ENSP00000445862:R19H	ENSP00000281453:R19H	R	-	2	0	MLF1IP	185889108	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.289000	0.02780	-2.766000	0.00367	-1.088000	0.02184	CGT	-	NULL		0.323	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	protein_coding	OTTHUMT00000360841.2	C		-		185652114	-1	no_errors	ENST00000281453	ensembl	human	known	74_37	missense	SNP	0.000	T	T	185652114	C	T	185652114	3	4	230	1	0	0	0	0	1	0	0	0	9617	536	19	1	1248	1	MLF1IP	4	185652114	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	2001933	185652114	5502162	28	18586											
CDH9	1007	genome.wustl.edu	37	chr5	26988233	26988233	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgcctacatattgtgtgtCagtacctgtgtactcttcca	7	11	2	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr5:26988233C>T	ENST00000231021.4	-	2	380	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	70	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATTGTGTGTCAGTACCTGTG	0.393																																					Melanoma(8;187 585 15745 40864 52829)												0								ENSG00000113100						76	73	74					5																	26988233		2203	4300	6503	CDH9	SO:0001583	missense	0			-	HGNC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.208G>A	5.37:g.26988233C>T	ENSP00000231021:p.Asp70Asn	Somatic	0	29	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q3B7I5	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D70N	ENST00000231021.4	37	c.208	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260654	0.80246	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00590	6.36;6.36;6.36	5.64	5.64	0.86602	Cadherin (1);Cadherin-like (1);	0.049238	0.85682	D	0.000000	T	0.01765	0.0056	L	0.46819	1.47	0.58432	D	0.999997	D;B	0.60575	0.988;0.169	P;B	0.61722	0.893;0.31	T	0.76732	-0.2851	9	.	.	.	.	18.2526	0.90009	0.0:1.0:0.0:0.0	.	70;70	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	70	ENSP00000231021:D70N;ENSP00000426239:D70N;ENSP00000422538:D70N	.	D	-	1	0	CDH9	27023990	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.447000	0.80620	2.652000	0.90054	0.591000	0.81541	GAC	-	pfam_Cadherin,superfamily_Cadherin-like		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	protein_coding	OTTHUMT00000207352.1	C	NM_016279	-		26988233	-1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	SNP	1.000	T	T	26988233	C	T	26988233	3	4	230	1	0	0	0	0	1	0	0	0	3119	826	29	2	2205	2	CDH9	5	26988233	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09		26988233	153927027	29	18587											
RGNEF	64283	genome.wustl.edu	37	chr5	73236726	73236726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactcaaattcacaccgccCtcaactgcaggcgtttataa	6	13	3	1	rs181057055		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr5:73236726C>A	ENST00000426542.2	+	35	5026	c.5006C>A	c.(5005-5007)cCt>cAt	p.P1669H	ARHGEF28_ENST00000512883.1_Missense_Mutation_p.P615H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.P1695H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P1695H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P1669H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P1356H|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P1651H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1669	Interaction with microtubules. {ECO:0000250}.				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)										TCACACCGCCCTCAACTGCAG	0.488																																																	0								ENSG00000214944																																			ARHGEF28	SO:0001583	missense	0			-	HGNC		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.5006C>A	5.37:g.73236726C>A	ENSP00000412175:p.Pro1669His	Somatic	0	72	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP							pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P1695H	ENST00000426542.2	37	c.5084	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541530	0.65085	.	.	ENSG00000214944	ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T	0.40476	2.51;2.94;2.54;2.51;2.94;2.76;1.03	5.27	3.44	0.39384	.	.	.	.	.	T	0.33089	0.0851	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.51240	0.838;0.838;0.838;0.943	B;B;B;P	0.48166	0.297;0.297;0.297;0.569	T	0.10154	-1.0642	9	0.87932	D	0	.	6.8492	0.24005	0.1738:0.7365:0.0:0.0897	.	1356;1669;1695;615	B5MDA3;Q8N1W1;E9PC75;D6RGZ3	.;RGNEF_HUMAN;.;.	H	1695;1669;1651;1695;1669;1356;615	ENSP00000441913:P1695H;ENSP00000441436:P1669H;ENSP00000287898:P1651H;ENSP00000411459:P1695H;ENSP00000412175:P1669H;ENSP00000296799:P1356H;ENSP00000421081:P615H	ENSP00000287898:P1651H	P	+	2	0	RP11-428C6.1	73272482	0.001000	0.12720	0.011000	0.14972	0.437000	0.31866	0.910000	0.28571	1.446000	0.47643	0.650000	0.86243	CCT	-	NULL		0.488	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	C		-		73236726	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	0.003	A	A	73236726	C	A	73236726	3	1	230	1	0	0	0	0	1	0	0	0	13291	681	24	3	5226	3	RGNEF	5	73236726	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	46248493	73236726	107678534	30	18588											
TRIM52	84851	genome.wustl.edu	37	chr5	180687743	180687746	+	Frame_Shift_Del	DEL	CAAG	CAAG	-													acggggtccttgaagtaatcCaagcagatggcacacaccgc							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	CAAG	CAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr5:180687743_180687746delCAAG	ENST00000327767.4	-	1	373_376	c.69_72delCTTG	c.(67-72)tgcttgfs	p.CL23fs	TRIM52-AS1_ENST00000433265.3_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	23					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TGAAGTAATCCAAGCAGATGGCAC	0.578																																																	0								ENSG00000183718																																			TRIM52	SO:0001589	frameshift_variant	0				HGNC		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.69_72delCTTG	5.37:g.180687743_180687746delCAAG	ENSP00000332152:p.Cys23fs	Somatic	0	40	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42		Frame_Shift_Del	DEL							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.C23fs	ENST00000327767.4	37	c.72_69	CCDS4467.1	5																																																																																			-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.578	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	protein_coding	OTTHUMT00000253572.3	CAAG	NM_032765			180687746	-1	no_errors	ENST00000327767	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	180687746	CAAG	-	180687743	7	5	230	1	0	1	0	1	0	0	0	0	16534	593	21	0	829	0	TRIM52	5	180687743	Frame_Shift_Del	DEL	CAAG	TCGA-X2-A95T-01A-11D-A37C-09	107451017	180687743	227517	31	18589											
C6orf165	154313	genome.wustl.edu	37	chr6	88119637	88119637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcagcccatggagagaTtgtttctgaaactctgattg	11	7	2	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr6:88119637T>C	ENST00000507897.1	+	2	163	c.80T>C	c.(79-81)aTt>aCt	p.I27T	C6ORF165_ENST00000369562.4_Missense_Mutation_p.I27T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	27										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CATGGAGAGATTGTTTCTGAA	0.353																																																	0								ENSG00000272514						142	147	145					6																	88119637		2203	4300	6503	C6ORF165	SO:0001583	missense	0			-	Uniprot_gn	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.80T>C	6.37:g.88119637T>C	ENSP00000426769:p.Ile27Thr	Somatic	0	210	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	62	50.40	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP							pfam_DUF3508	p.I27T	ENST00000507897.1	37	c.80	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	T	0.917	-0.717133	0.03182	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.27720	1.65;1.65	5.39	2.73	0.32206	.	0.602100	0.17226	N	0.182152	T	0.02230	0.0069	N	0.01109	-1.01	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.47045	-0.9147	10	0.10111	T	0.7	.	6.3819	0.21540	0.0:0.3494:0.0:0.6506	.	27;27	Q8IYR0;E1P509	CF165_HUMAN;.	T	27	ENSP00000358575:I27T;ENSP00000422494:I27T	ENSP00000358575:I27T	I	+	2	0	C6orf165	88176356	0.004000	0.15560	0.612000	0.29024	0.930000	0.56654	1.314000	0.33597	0.983000	0.38602	0.533000	0.62120	ATT	-	NULL		0.353	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	protein_coding	OTTHUMT00000470406.1	T	NM_178823	-		88119637	1	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	SNP	0.100	C	C	88119637	T	C	88119637	3	2	230	1	0	0	0	0	1	0	0	0	2343	1493	52	5	82	5	C6orf165	6	88119637	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09		88119637	82995430	32	18590											
COL10A1	1300	genome.wustl.edu	37	chr6	116442752	116442752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggactcctggtgcacccTtttctccaggaaagcccctg	10	15	1	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr6:116442752T>C	ENST00000327673.4	-	2	934	c.527A>G	c.(526-528)aAg>aGg	p.K176R	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.K176R			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	176	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGGTGCACCCTTTTCTCCAGG	0.592																																																	0								ENSG00000123500						38	40	39					6																	116442752		2203	4300	6503	COL10A1	SO:0001583	missense	0			-	HGNC		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.527A>G	6.37:g.116442752T>C	ENSP00000327368:p.Lys176Arg	Somatic	0	48	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A1L4P2	Missense_Mutation	SNP							pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K176R	ENST00000327673.4	37	c.527	CCDS5105.1	6	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065892	0.55539	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729	D;D;D	0.94184	-3.37;-3.37;-3.14	5.55	3.01	0.34805	.	0.101017	0.64402	D	0.000002	D	0.85923	0.5810	N	0.17379	0.485	0.54753	D	0.99998	D	0.63880	0.993	P	0.55615	0.78	T	0.82987	-0.0184	10	0.20046	T	0.44	.	12.3737	0.55269	0.0:0.0:0.2665:0.7335	.	176	Q03692	COAA1_HUMAN	R	176	ENSP00000243222:K176R;ENSP00000327368:K176R;ENSP00000411285:K176R	ENSP00000243222:K176R	K	-	2	0	COL10A1	116549445	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	6.161000	0.71868	0.411000	0.25702	0.533000	0.62120	AAG	-	NULL		0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	protein_coding	OTTHUMT00000041926.1	T		-		116442752	-1	no_errors	ENST00000243222	ensembl	human	known	74_37	missense	SNP	1.000	C	C	116442752	T	C	116442752	3	2	230	1	0	0	0	0	1	0	0	0	3668	1609	56	5	1519	5	COL10A1	6	116442752	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	28323115	116442752	54672315	33	18591											
TULP4	56995	genome.wustl.edu	37	chr6	158923753	158923753	+	Frame_Shift_Del	DEL	G	G	-													ccaagtccaagggcgggcccGggggggtggtgacacagctc							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr6:158923753delG	ENST00000367097.3	+	13	4415	c.3058delG	c.(3058-3060)gggfs	p.G1021fs	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1021					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1022fs*80(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGGCGGGCCCGGGGGGGTGGT	0.721																																																	1	Insertion - Frameshift(1)	large_intestine(1)						ENSG00000130338		,	20,3782		2,16,1883					,	-2	0			7	44,7448		4,36,3706	no	frameshift,intron	TULP4	NM_020245.3,NM_001007466.1	,	6,52,5589	A1A1,A1R,RR		0.5873,0.526,0.5667	,	,		64,11230				TULP4	SO:0001589	frameshift_variant	0				HGNC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3058delG	6.37:g.158923753delG	ENSP00000356064:p.Gly1021fs	Somatic	0	35	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL							pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1022fs	ENST00000367097.3	37	c.3058	CCDS34561.1	6																																																																																			-	NULL		0.721	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	protein_coding	OTTHUMT00000042869.1	G	NM_020245			158923753	1	no_errors	ENST00000367097	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	158923753	G	-	158923753	7	5	230	1	0	1	0	1	0	0	0	0	16783	1116	39	0	3108	0	TULP4	6	158923753	Frame_Shift_Del	DEL	G	TCGA-X2-A95T-01A-11D-A37C-09	42481001	158923753	12191314	34	18592											
FRMD1	79981	genome.wustl.edu	37	chr6	168464403	168464403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagggtaggcatgtgccGgaggatgtagtcaatccccc	15	10	1	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr6:168464403G>A	ENST00000283309.6	-	6	746	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	FRMD1_ENST00000440994.2_Missense_Mutation_p.R160W|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	228	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.R228W(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCATGTGCCGGAGGATGTAG	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												1	Substitution - Missense(1)	ovary(1)						ENSG00000153303						103	86	92					6																	168464403		2203	4300	6503	FRMD1	SO:0001583	missense	0			-	HGNC		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.682C>T	6.37:g.168464403G>A	ENSP00000283309:p.Arg228Trp	Somatic	0	30	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.R228W	ENST00000283309.6	37	c.682	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532869	0.27387	.	.	ENSG00000153303	ENST00000283309;ENST00000440994	T;T	0.78707	-1.2;-1.2	2.83	0.191	0.15130	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.506221	0.18349	U	0.143925	T	0.77425	0.4128	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.65140	0.932;0.932;0.888	T	0.77104	-0.2711	10	0.87932	D	0	.	9.1883	0.37184	0.0:0.0:0.3699:0.6301	.	140;228;160	B7Z8G9;Q8N878;Q8N878-2	.;FRMD1_HUMAN;.	W	228;160	ENSP00000283309:R228W;ENSP00000414115:R160W	ENSP00000283309:R228W	R	-	1	2	FRMD1	168207252	0.549000	0.26481	0.003000	0.11579	0.137000	0.21094	-0.029000	0.12329	-0.172000	0.10779	0.305000	0.20034	CGG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	protein_coding	OTTHUMT00000362513.2	G	NM_024919	-		168464403	-1	no_errors	ENST00000283309	ensembl	human	known	74_37	missense	SNP	0.938	A	A	168464403	G	A	168464403	3	1	230	1	0	0	0	0	1	0	0	0	6051	1115	39	1	991	1	FRMD1	6	168464403	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	9540650	168464403	2650664	35	18593											
NSUN5	55695	genome.wustl.edu	37	chr7	72717970	72717973	+	Frame_Shift_Del	DEL	GCAT	GCAT	-													gctgctggaaccctgccaggGcatgcagacgcaccgggcta							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	GCAT	GCAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr7:72717970_72717973delGCAT	ENST00000252594.6	-	8	1010_1013	c.995_998delATGC	c.(994-999)catgccfs	p.HA332fs	NSUN5_ENST00000438747.2_Frame_Shift_Del_p.HA332fs|NSUN5_ENST00000310326.8_Frame_Shift_Del_p.HA332fs|NSUN5_ENST00000428206.1_Frame_Shift_Del_p.HA294fs			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	332					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CCCTGCCAGGGCATGCAGACGCAC	0.618																																																	0								ENSG00000130305																																			NSUN5	SO:0001589	frameshift_variant	0				HGNC	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.995_998delATGC	7.37:g.72717970_72717973delGCAT	ENSP00000252594:p.His332fs	Somatic	0	85	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	34	44.26	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Frame_Shift_Del	DEL							pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.H332fs	ENST00000252594.6	37	c.998_995	CCDS5547.1	7																																																																																			-	pfam_Fmu/NOL1/Nop2p		0.618	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	protein_coding	OTTHUMT00000252113.1	GCAT	NM_148956			72717973	-1	no_errors	ENST00000438747	ensembl	human	known	74_37	frame_shift_del	DEL	0.962:0.948:0.057:0.066	-	-	72717973	GCAT	-	72717970	7	5	230	1	0	1	0	1	0	0	0	0	10683	1203	42	0	435	0	NSUN5	7	72717970	Frame_Shift_Del	DEL	GCAT	TCGA-X2-A95T-01A-11D-A37C-09		72717970	86420693	36	18594											
TRIM73	375593	genome.wustl.edu	37	chr7	75028240	75028240	+	Missense_Mutation	SNP	T	T	C													ggcttggcaggtgagcctgcTggagctggaggaccggcttc					rs73702636		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr7:75028240T>C	ENST00000437796.1	+	1	42	c.23T>C	c.(22-24)cTg>cCg	p.L8P	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000430211.1_Missense_Mutation_p.L8P|TRIM73_ENST00000447409.2_Missense_Mutation_p.L8P|TRIM73_ENST00000323819.3_Missense_Mutation_p.L8P|TRIM73_ENST00000463766.1_3'UTR			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	8						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGAGCCTGCTGGAGCTGGAG	0.617																																																	0								ENSG00000178809						134	135	135					7																	75028240		2203	4300	6503	TRIM73	SO:0001583	missense	0			-	HGNC	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18162	protein-coding gene	gene with protein product		612549	"tripartite motif-containing 50B", "tripartite motif-containing 73"	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.23T>C	7.37:g.75028240T>C	ENSP00000417040:p.Leu8Pro	Somatic	0	147	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	96	11.11	Q8N0S3	Missense_Mutation	SNP							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L8P	ENST00000437796.1	37	c.23	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.453889	0.00175	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);	0.716055	0.13135	N	0.411154	T	0.65037	0.2653	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56282	-0.8005	9	0.20046	T	0.44	.	3.1123	0.06363	0.2601:0.5871:0.0:0.1528	.	8;8	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	P	8	ENSP00000318615:L8P;ENSP00000410121:L8P;ENSP00000407135:L8P;ENSP00000417040:L8P	ENSP00000318615:L8P	L	+	2	0	TRIM73	74866176	0.000000	0.05858	0.274000	0.24659	0.362000	0.29581	-0.984000	0.03755	0.549000	0.28973	-0.511000	0.04467	CTG	-	NULL		0.617	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	protein_coding	OTTHUMT00000342950.1	T		rs116984258		75028240	1	no_errors	ENST00000323819	ensembl	human	known	74_37	missense	SNP	0.061	C	C	75028240	T	C	75028240	3	2	230	1	0	0	0	0	1	0	0	0	16553	1580	55	5	25	5	TRIM73	7	75028240	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	2310270	75028240	84110423	37	18595	494	2									
TRIM73	375593	genome.wustl.edu	37	chr7	75028241	75028241	+	Silent	SNP	G	G	A													gcttggcaggtgagcctgctGgagctggaggaccggcttca					rs73702637		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr7:75028241G>A	ENST00000437796.1	+	1	43	c.24G>A	c.(22-24)ctG>ctA	p.L8L	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000430211.1_Silent_p.L8L|TRIM73_ENST00000447409.2_Silent_p.L8L|TRIM73_ENST00000323819.3_Silent_p.L8L|TRIM73_ENST00000463766.1_3'UTR			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	8						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGAGCCTGCTGGAGCTGGAGG	0.612																																																	0								ENSG00000178809						137	139	138					7																	75028241		2203	4300	6503	TRIM73	SO:0001819	synonymous_variant	0			-	HGNC	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18162	protein-coding gene	gene with protein product		612549	"tripartite motif-containing 50B", "tripartite motif-containing 73"	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.24G>A	7.37:g.75028241G>A		Somatic	1	149	0.67		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	97	11.01	Q8N0S3	Silent	SNP							pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L8	ENST00000437796.1	37	c.24	CCDS34665.1	7																																																																																			-	NULL		0.612	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	protein_coding	OTTHUMT00000342950.1	G		rs117463977		75028241	1	no_errors	ENST00000323819	ensembl	human	known	74_37	silent	SNP	0.004	A	A	75028241	G	A	75028241	2	1	230	1	0	0	0	0	0	0	0	1	16553	1335	47	2		2	TRIM73	7	75028241	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	1	75028241	84110422	38	18596	494	2									
ANKIB1	54467	genome.wustl.edu	37	chr7	92027826	92027826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacaccctctcagtgagGcaagaagtgatttctgtccc	9	13	3	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr7:92027826G>A	ENST00000265742.3	+	20	3209	c.2833G>A	c.(2833-2835)Gca>Aca	p.A945T		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	945							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTCAGTGAGGCAAGAAGTGA	0.498																																																	0								ENSG00000001629						114	111	112					7																	92027826		2032	4186	6218	ANKIB1	SO:0001583	missense	0			-	HGNC	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2833G>A	7.37:g.92027826G>A	ENSP00000265742:p.Ala945Thr	Somatic	0	50	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP							pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING	p.A945T	ENST00000265742.3	37	c.2833	CCDS47639.1	7	.	.	.	.	.	.	.	.	.	.	G	8.721	0.914351	0.17907	.	.	ENSG00000001629	ENST00000265742	T	0.09538	2.97	5.6	0.319	0.15873	.	1.082220	0.06841	N	0.795763	T	0.03263	0.0095	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.40850	-0.9541	10	0.02654	T	1	.	1.5015	0.02477	0.2821:0.2413:0.3535:0.1231	.	297;945	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	T	945	ENSP00000265742:A945T	ENSP00000265742:A945T	A	+	1	0	ANKIB1	91865762	0.115000	0.22152	0.869000	0.34112	0.996000	0.88848	0.541000	0.23207	0.108000	0.17862	-0.157000	0.13467	GCA	-	NULL		0.498	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKIB1	protein_coding	OTTHUMT00000342018.1	G		-		92027826	1	no_errors	ENST00000265742	ensembl	human	known	74_37	missense	SNP	0.001	A	A	92027826	G	A	92027826	3	1	230	1	0	0	0	0	1	0	0	0	630	1203	42	2	2907	2	ANKIB1	7	92027826	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	16999585	92027826	67110837	39	18597											
PRKAR2B	5577	genome.wustl.edu	37	chr7	106786808	106786809	+	Frame_Shift_Del	DEL	TA	TA	-													ttggaagatgtgttggtaacTatgataatcgtgggagtttc							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr7:106786808_106786809delTA	ENST00000265717.4	+	6	902_903	c.643_644delTA	c.(643-645)tatfs	p.Y215fs		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	215					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGTTGGTAACTATGATAATCGT	0.416																																																	0								ENSG00000005249																																			PRKAR2B	SO:0001589	frameshift_variant	0				HGNC		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.643_644delTA	7.37:g.106786808_106786809delTA	ENSP00000265717:p.Tyr215fs	Somatic	0	84	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	37	39.34	A4D0R9	Frame_Shift_Del	DEL							pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.Y215fs	ENST00000265717.4	37	c.643_644	CCDS5740.1	7																																																																																			-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom		0.416	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	protein_coding	OTTHUMT00000268386.1	TA				106786809	1	no_errors	ENST00000265717	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	106786809	TA	-	106786808	7	5	230	1	0	1	0	1	0	0	0	0	12511	1522	53	0	665	0	PRKAR2B	7	106786808	Frame_Shift_Del	DEL	TA	TCGA-X2-A95T-01A-11D-A37C-09	14758982	106786808	52351855	40	18598											
SLC13A4	26266	genome.wustl.edu	37	chr7	135412200	135412200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcgggacgcagacgacCagcagcagcttccggactcg	15	13	0	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr7:135412200C>T	ENST00000354042.4	-	1	734	c.45G>A	c.(43-45)ctG>ctA	p.L15L	FAM180A_ENST00000435869.1_5'Flank	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	15					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGCAGACGACCAGCAGCAGCT	0.697																																																	0								ENSG00000164707						28	26	27					7																	135412200		1930	3671	5601	SLC13A4	SO:0001819	synonymous_variant	0			-	HGNC	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.45G>A	7.37:g.135412200C>T		Somatic	0	62	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A4D1Q4|Q8N631	Silent	SNP							pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.L15	ENST00000354042.4	37	c.45	CCDS5840.1	7																																																																																			-	pfam_Na/sul_symport		0.697	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	protein_coding	OTTHUMT00000340558.1	C	NM_012450	-		135412200	-1	no_errors	ENST00000354042	ensembl	human	known	74_37	silent	SNP	0.998	T	T	135412200	C	T	135412200	2	4	230	1	0	0	0	0	0	0	0	1	14402	581	21	2		2	SLC13A4	7	135412200	Silent	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	28625392	135412200	23726463	41	18599											
PPP2R2A	5520	genome.wustl.edu	37	chr8	26218555	26218555	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaatatttgccaatgcTcatacatatcacatcaactc	4	11	3	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr8:26218555T>G	ENST00000380737.3	+	6	854	c.525T>G	c.(523-525)gcT>gcG	p.A175A	PPP2R2A_ENST00000315985.7_Silent_p.A185A	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	175					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTGCCAATGCTCATACATATC	0.353																																																	0								ENSG00000221914						149	144	146					8																	26218555		2203	4300	6503	PPP2R2A	SO:0001819	synonymous_variant	0			-	HGNC	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.525T>G	8.37:g.26218555T>G		Somatic	0	82	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.A175	ENST00000380737.3	37	c.525	CCDS34867.1	8																																																																																			-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	T	NM_002717	-		26218555	1	no_errors	ENST00000380737	ensembl	human	known	74_37	silent	SNP	0.997	G	G	26218555	T	G	26218555	2	3	230	1	0	0	0	0	0	0	0	1	12389	1538	54	5		5	PPP2R2A	8	26218555	Silent	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09		26218555	120145467	42	18600											
MTFR1	9650	genome.wustl.edu	37	chr8	66620234	66620237	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													tctgaatcagaggccacctcAgagagagtgttggtgagtta					rs150478914		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AGAG	AGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr8:66620234_66620237delAGAG	ENST00000262146.4	+	7	1047_1050	c.921_924delAGAG	c.(919-924)tcagagfs	p.SE307fs	MTFR1_ENST00000458689.2_Frame_Shift_Del_p.SE274fs	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	307					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGGCCACCTCAGAGAGAGTGTTGG	0.412																																																	0								ENSG00000066855																																			MTFR1	SO:0001589	frameshift_variant	0				HGNC		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.921_924delAGAG	8.37:g.66620238_66620241delAGAG	ENSP00000262146:p.Ser307fs	Somatic	0	58	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	8	70.37	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Frame_Shift_Del	DEL							pfam_Mtfr1	p.R309fs	ENST00000262146.4	37	c.921_924	CCDS6182.1	8																																																																																			-	NULL		0.412	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	protein_coding	OTTHUMT00000378894.1	AGAG	NM_014637			66620237	1	no_errors	ENST00000262146	ensembl	human	known	74_37	frame_shift_del	DEL	0.994:0.993:0.944:0.308	-	-	66620237	AGAG	-	66620234	7	5	230	1	0	1	0	1	0	0	0	0	9927	175	7	0	943	0	MTFR1	8	66620234	Frame_Shift_Del	DEL	AGAG	TCGA-X2-A95T-01A-11D-A37C-09	40401679	66620234	79743788	43	18601											
UBR5	51366	genome.wustl.edu	37	chr8	103323643	103323643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtggaagatccagccaatCgggatcccttattcctccca	9	13	0	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr8:103323643C>T	ENST00000520539.1	-	20	3106	c.2500G>A	c.(2500-2502)Gat>Aat	p.D834N	UBR5_ENST00000521922.1_Missense_Mutation_p.D828N|UBR5_ENST00000220959.4_Missense_Mutation_p.D834N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	834					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCAGCCAATCGGGATCCCTT	0.398																																					Ovarian(131;96 1741 5634 7352 27489)												0								ENSG00000104517						126	126	126					8																	103323643		2203	4300	6503	UBR5	SO:0001583	missense	0			-	HGNC	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2500G>A	8.37:g.103323643C>T	ENSP00000429084:p.Asp834Asn	Somatic	0	66	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP							pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.D834N	ENST00000520539.1	37	c.2500	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346187	0.82022	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49720	0.77;0.77;0.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.11427	0.14	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	T	0.46679	-0.9174	10	0.17369	T	0.5	.	19.7693	0.96356	0.0:1.0:0.0:0.0	.	828;834	E7EMW7;O95071	.;UBR5_HUMAN	N	834;834;828	ENSP00000429084:D834N;ENSP00000220959:D834N;ENSP00000427819:D828N	ENSP00000220959:D834N	D	-	1	0	UBR5	103392819	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.814000	0.86154	2.669000	0.90835	0.561000	0.74099	GAT	-	NULL		0.398	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	protein_coding	OTTHUMT00000380075.2	C	NM_015902	-		103323643	-1	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103323643	C	T	103323643	3	4	230	1	0	0	0	0	1	0	0	0	16912	884	31	1	6059	1	UBR5	8	103323643	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	36703409	103323643	43040379	44	18602											
ATAD2	29028	genome.wustl.edu	37	chr8	124381375	124381375	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttgcaggagaagctggGccactataaaatatgttggg	14	6	1	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr8:124381375G>T	ENST00000287394.5	-	8	1079	c.972C>A	c.(970-972)ggC>ggA	p.G324G	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	324					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GAGAAGCTGGGCCACTATAAA	0.343																																																	0								ENSG00000156802						96	88	91					8																	124381375		2203	4300	6503	ATAD2	SO:0001819	synonymous_variant	0			-	HGNC	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.972C>A	8.37:g.124381375G>T		Somatic	0	43	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP							pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G324	ENST00000287394.5	37	c.972	CCDS6343.1	8																																																																																			-	NULL		0.343	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	protein_coding	OTTHUMT00000381766.2	G	NM_014109	-		124381375	-1	no_errors	ENST00000287394	ensembl	human	known	74_37	silent	SNP	0.998	T	T	124381375	G	T	124381375	2	4	230	1	0	0	0	0	0	0	0	1	1071	1190	42	3		3	ATAD2	8	124381375	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	21057732	124381375	21982647	45	18603											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145660403	145660403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctctgcggctcacctcGtcattgctctgcagcacatc	8	17	4	0	rs558700548		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr8:145660403G>A	ENST00000409379.3	-	19	3032	c.3003C>T	c.(3001-3003)gaC>gaT	p.D1001D	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1001					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)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTCACCTCGTCATTGCTCT	0.682													G|||	1	0.000199681	0	0	5008	,	,		16355	0.001		0	False		,,,				2504	0																0								ENSG00000160949						22	24	23					8																	145660403		2200	4299	6499	TONSL	SO:0001819	synonymous_variant	0			-	HGNC		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.3003C>T	8.37:g.145660403G>A		Somatic	0	95	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	4	87.10	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.D1001	ENST00000409379.3	37	c.3003	CCDS34968.2	8																																																																																			-	NULL		0.682	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	G	NM_013432	-		145660403	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	silent	SNP	0.999	A	A	145660403	G	A	145660403	2	1	230	1	0	0	0	0	0	0	0	1	10384	1136	40	1		1	NFKBIL2	8	145660403	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	21279028	145660403	703619	46	18604											
ANP32B	10541	genome.wustl.edu	37	chr9	100767419	100767419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggatggtgtggatgaAgaggaggaggacgaaggtga	22	1	0	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr9:100767419A>G	ENST00000339399.4	+	4	696	c.501A>G	c.(499-501)gaA>gaG	p.E167E		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	167	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				GTGTGGATGAAGAGGAGGAGG	0.542																																																	0								ENSG00000136938						93	76	82					9																	100767419		2203	4300	6503	ANP32B	SO:0001819	synonymous_variant	0			-	HGNC	Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"ANP32 acidic nuclear phosphoproteins"	16677	protein-coding gene	gene with protein product	"acidic protein rich in leucines"					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.501A>G	9.37:g.100767419A>G		Somatic	0	68	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R9C7|O00655|P78458|P78459	Silent	SNP							smart_U2A'_phosphoprotein32A_C	p.E167	ENST00000339399.4	37	c.501	CCDS6732.1	9																																																																																			-	NULL		0.542	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	protein_coding	OTTHUMT00000053346.4	A	NM_006401	-		100767419	1	no_errors	ENST00000339399	ensembl	human	known	74_37	silent	SNP	0.986	G	G	100767419	A	G	100767419	2	3	230	1	0	0	0	0	0	0	0	1	706	69	3	5		5	ANP32B	9	100767419	Silent	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09		100767419	40446012	47	18605											
TEX10	54881	genome.wustl.edu	37	chr9	103109310	103109310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgagaaataagttctaCaaaattcttaagcaatatgc	6	6	2	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr9:103109310C>A	ENST00000374902.4	-	3	735	c.559G>T	c.(559-561)Gta>Tta	p.V187L	TEX10_ENST00000537512.1_Missense_Mutation_p.V122L|TEX10_ENST00000535814.1_Missense_Mutation_p.V190L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	187						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATAAGTTCTACAAAATTCTTA	0.408																																																	0								ENSG00000136891						67	71	70					9																	103109310		2203	4300	6503	TEX10	SO:0001583	missense	0			-	HGNC	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.559G>T	9.37:g.103109310C>A	ENSP00000364037:p.Val187Leu	Somatic	0	30	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP							pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V187L	ENST00000374902.4	37	c.559	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563062	0.13498	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.61392	0.11;0.11;0.11	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.065999	0.64402	D	0.000007	T	0.33206	0.0855	N	0.03084	-0.415	0.45318	D	0.998312	B;B;B	0.21520	0.057;0.057;0.016	B;B;B	0.29942	0.109;0.066;0.049	T	0.25847	-1.0120	10	0.06494	T	0.89	-8.8888	13.9026	0.63815	0.1522:0.8478:0.0:0.0	.	122;190;187	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	L	190;187;122	ENSP00000444555:V190L;ENSP00000364037:V187L;ENSP00000438120:V122L	ENSP00000364037:V187L	V	-	1	0	TEX10	102149131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	2.484000	0.83849	0.591000	0.81541	GTA	-	pfam_IPI1/TEX10,superfamily_ARM-type_fold		0.408	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	protein_coding	OTTHUMT00000053416.1	C	NM_017746	-		103109310	-1	no_errors	ENST00000374902	ensembl	human	known	74_37	missense	SNP	1.000	A	A	103109310	C	A	103109310	3	1	230	1	0	0	0	0	1	0	0	0	15779	478	17	3	2282	3	TEX10	9	103109310	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	2341891	103109310	38104121	48	18606											
NPDC1	56654	genome.wustl.edu	37	chr9	139935530	139935531	+	Frame_Shift_Del	DEL	CT	CT	-													tcaccaggctccgggagccgCtgtcggtccttgggtagggg							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr9:139935530_139935531delCT	ENST00000371601.4	-	3	581_582	c.368_369delAG	c.(367-369)cagfs	p.Q123fs	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371600.3_Frame_Shift_Del_p.Q201fs	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	123						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCGGGAGCCGCTGTCGGTCCTT	0.653																																																	0								ENSG00000107281																																			NPDC1	SO:0001589	frameshift_variant	0				HGNC	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.368_369delAG	9.37:g.139935530_139935531delCT	ENSP00000360660:p.Gln123fs	Somatic	0	84	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	34	44.26	Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL							pfam_NPDC1	p.Q201fs	ENST00000371601.4	37	c.603_602	CCDS7024.1	9																																																																																			-	pfam_NPDC1		0.653	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPDC1	protein_coding	OTTHUMT00000055182.1	CT	NM_015392			139935531	-1	no_errors	ENST00000371600	ensembl	human	known	74_37	frame_shift_del	DEL	0.001:0.001	-	-	139935531	CT	-	139935530	7	5	230	1	0	1	0	1	0	0	0	0	10575	796	28	0	636	0	NPDC1	9	139935530	Frame_Shift_Del	DEL	CT	TCGA-X2-A95T-01A-11D-A37C-09	36826220	139935530	1277901	49	18607											
ABI1	10006	genome.wustl.edu	37	chr10	27060004	27060004	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgataagtaatggctcttacCttggcttttagccactttac	7	9	1	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr10:27060004C>A	ENST00000376142.2	-	4	548	c.477G>T	c.(475-477)aaG>aaT	p.K159N	ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000359188.4_Splice_Site_p.K159N|ABI1_ENST00000355394.4_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Splice_Site_p.K159N|ABI1_ENST00000376170.4_Splice_Site_p.K159N|ABI1_ENST00000376138.3_Splice_Site_p.K159N|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000346832.5_Splice_Site_p.K176N|ABI1_ENST00000376139.2_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	159					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCTCTTACCTTGGCTTTTA	0.383																																																	0								ENSG00000136754						105	107	106					10																	27060004		2203	4300	6503	ABI1	SO:0001630	splice_region_variant	0			-	HGNC	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.477+1G>T	10.37:g.27060004C>A		Somatic	0	87	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP							pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.K159N	ENST00000376142.2	37	c.477	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158585	0.38119	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376142;ENST00000359188;ENST00000346832;ENST00000376140	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.65	5.65	0.86999	Abl-interactor, homeo-domain homologous domain (1);	.	.	.	.	D	0.86347	0.5911	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B	0.33755	0.0;0.424;0.361;0.135;0.0;0.0;0.156;0.372	B;B;B;B;B;B;B;B	0.39935	0.001;0.314;0.062;0.047;0.002;0.001;0.168;0.079	D	0.83613	0.0135	8	.	.	.	.	19.7111	0.96096	0.0:1.0:0.0:0.0	.	159;159;184;159;176;159;159;159	B6VEX4;B6VEX3;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;ABI1_HUMAN	N	159;159;159;159;176;159	ENSP00000365308:K159N;ENSP00000365340:K159N;ENSP00000365312:K159N;ENSP00000352114:K159N;ENSP00000279599:K176N;ENSP00000365310:K159N	.	K	-	3	2	ABI1	27100010	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.298000	0.78815	2.664000	0.90586	0.491000	0.48974	AAG	-	pfam_Abl-interactor_HHR_dom		0.383	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	protein_coding	OTTHUMT00000047287.1	C	NM_005470	-	Missense_Mutation	27060004	-1	no_errors	ENST00000376142	ensembl	human	known	74_37	missense	SNP	1.000	A	A	27060004	C	A	27060004	5	1	230	1	0	0	0	0	0	0	1	0	88	695	24	3	1085	3	ABI1	10	27060004	Splice_Site	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09		27060004	108474743	50	18608											
RBP3	5949	genome.wustl.edu	37	chr10	48389030	48389030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcctcctcggccagcacGatggcatcgggcaccactcc	12	17	0	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr10:48389030G>A	ENST00000224600.4	-	1	1961	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	616	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGCCAGCACGATGGCATCGG	0.672																																																	0								ENSG00000107618						31	32	32					10																	48389030		2196	4292	6488	RBP3	SO:0001819	synonymous_variant	0			-	HGNC	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1848C>T	10.37:g.48389030G>A		Somatic	0	75	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP							pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.I616	ENST00000224600.4	37	c.1848	CCDS7218.1	10																																																																																			-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	protein_coding	OTTHUMT00000047888.1	G	NM_002900	-		48389030	-1	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	SNP	0.981	A	A	48389030	G	A	48389030	2	1	230	1	0	0	0	0	0	0	0	1	13165	1048	37	1		1	RBP3	10	48389030	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	21329026	48389030	87145717	51	18609											
DGKZ	8525	genome.wustl.edu	37	chr11	46393986	46393986	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcccatccagggtgcaaaGatcatccagtctttcctctg	7	14	3	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:46393986G>T	ENST00000454345.1	+	12	1625	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.K311N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K312N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K328N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K90N|DGKZ_ENST00000318201.8_Missense_Mutation_p.K289N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K316N|DGKZ_ENST00000421244.2_Missense_Mutation_p.K312N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K278N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	500	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGCAAAGATCATCCAGT	0.582																																																	0								ENSG00000149091						96	75	82					11																	46393986		2202	4299	6501	DGKZ	SO:0001583	missense	0			-	HGNC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1500G>T	11.37:g.46393986G>T	ENSP00000412178:p.Lys500Asn	Somatic	0	30	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP							pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K500N	ENST00000454345.1	37	c.1500	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368542	0.61624	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.68	3.76	0.43208	Diacylglycerol kinase, catalytic domain (3);	0.045925	0.85682	D	0.000000	T	0.45094	0.1325	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.67145	0.993;0.993;0.994;0.993;0.986;0.979;0.979;0.981;0.996	D;D;D;D;D;D;D;D;D	0.77557	0.962;0.983;0.974;0.962;0.976;0.952;0.936;0.94;0.99	T	0.41034	-0.9531	10	0.87932	D	0	.	10.4922	0.44756	0.1593:0.0:0.8407:0.0	.	289;277;255;312;500;311;312;278;328	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	N	328;90;278;277;312;311;312;289;500	ENSP00000343065:K328N;ENSP00000434719:K90N;ENSP00000378941:K278N;ENSP00000436273:K277N;ENSP00000436291:K312N;ENSP00000395684:K311N;ENSP00000391021:K312N;ENSP00000320340:K289N;ENSP00000412178:K500N	ENSP00000320340:K289N	K	+	3	2	DGKZ	46350562	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	3.938000	0.56583	1.099000	0.41499	0.467000	0.42956	AAG	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.582	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	protein_coding	OTTHUMT00000389772.1	G	NM_001105540	-		46393986	1	no_errors	ENST00000454345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46393986	G	T	46393986	3	4	230	1	0	0	0	0	1	0	0	0	4476	933	33	3	1989	3	DGKZ	11	46393986	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09		46393986	88612530	52	18610											
OR1S1	219959	genome.wustl.edu	37	chr11	57982690	57982690	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggttcggcattttgctcacAgtcatctcatggttcctcag	9	11	4	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:57982690A>T	ENST00000309433.6	+	1	474	c.474A>T	c.(472-474)acA>acT	p.T158T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	158						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTTTGCTCACAGTCATCTCAT	0.468																																																	0								ENSG00000172774						213	201	205					11																	57982690		2201	4296	6497	OR1S1	SO:0001819	synonymous_variant	0			-	HGNC	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.474A>T	11.37:g.57982690A>T		Somatic	0	43	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	10	72.97	Q6IFG3	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T158	ENST00000309433.6	37	c.474	CCDS31546.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.468	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	protein_coding	OTTHUMT00000394705.1	A	NM_001004458	-		57982690	1	no_errors	ENST00000309433	ensembl	human	known	74_37	silent	SNP	0.000	T	T	57982690	A	T	57982690	2	4	230	1	0	0	0	0	0	0	0	1	10974	175	7	5		5	OR1S1	11	57982690	Silent	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	11588704	57982690	77023826	53	18611											
AHNAK	79026	genome.wustl.edu	37	chr11	62286210	62286210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacttaatttttgcttctgGaccttgcagatctacatctg	7	9	3	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:62286210G>A	ENST00000378024.4	-	5	15953	c.15679C>T	c.(15679-15681)Cca>Tca	p.P5227S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5227					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGCTTCTGGACCTTGCAGA	0.512																																																	0								ENSG00000124942						141	121	127					11																	62286210		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15679C>T	11.37:g.62286210G>A	ENSP00000367263:p.Pro5227Ser	Somatic	0	43	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	A1A586	Missense_Mutation	SNP							superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P5227S	ENST00000378024.4	37	c.15679	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188882	0.57909	.	.	ENSG00000124942	ENST00000378024	T	0.03152	4.03	4.99	4.99	0.66335	.	0.000000	0.45606	D	0.000352	T	0.18383	0.0441	M	0.74546	2.27	0.34187	D	0.671663	D	0.71674	0.998	D	0.87578	0.998	T	0.10520	-1.0626	10	0.39692	T	0.17	-4.1066	17.896	0.88888	0.0:0.0:1.0:0.0	.	5227	Q09666	AHNK_HUMAN	S	5227	ENSP00000367263:P5227S	ENSP00000367263:P5227S	P	-	1	0	AHNAK	62042786	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.369000	0.44231	2.308000	0.77769	0.643000	0.83706	CCA	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	G	NM_024060	-		62286210	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	1.000	A	A	62286210	G	A	62286210	3	1	230	1	0	0	0	0	1	0	0	0	414	1174	41	2	2113	2	AHNAK	11	62286210	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	4303520	62286210	72720306	54	18612											
SLC29A2	3177	genome.wustl.edu	37	chr11	66136939	66136939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcatcctcgggacccGtgtggttggtgctcaggatc	15	10	1	1	rs200637398	byFrequency	TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:66136939G>T	ENST00000357440.2	-	3	404	c.176C>A	c.(175-177)aCg>aAg	p.T59K	SLC29A2_ENST00000311161.7_Missense_Mutation_p.T59K|SLC29A2_ENST00000544554.1_Missense_Mutation_p.T59K|SLC29A2_ENST00000546034.1_Missense_Mutation_p.T59K	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	59					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTCGGGACCCGTGTGGTTGGT	0.632																																																	0								ENSG00000174669						200	192	195					11																	66136939		2200	4295	6495	SLC29A2	SO:0001583	missense	0			-	HGNC	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.176C>A	11.37:g.66136939G>T	ENSP00000350024:p.Thr59Lys	Somatic	0	65	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP							pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.T59K	ENST00000357440.2	37	c.176	CCDS8137.1	11	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936548	0.18206	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.85	4.85	0.62838	.	2.852240	0.01007	N	0.003778	T	0.32376	0.0827	M	0.73598	2.24	0.34132	D	0.66535	P;B	0.49253	0.921;0.015	P;B	0.46275	0.51;0.012	T	0.49762	-0.8905	10	0.08179	T	0.78	-10.2633	9.2068	0.37293	0.0987:0.0:0.9013:0.0	.	59;59	G5E943;Q14542	.;S29A2_HUMAN	K	59	ENSP00000311250:T59K;ENSP00000350024:T59K;ENSP00000439456:T59K;ENSP00000440329:T59K	ENSP00000311250:T59K	T	-	2	0	SLC29A2	65893515	0.334000	0.24739	0.927000	0.36925	0.018000	0.09664	0.900000	0.28431	2.274000	0.75844	0.555000	0.69702	ACG	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.632	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC29A2	protein_coding	OTTHUMT00000402093.1	G	NM_001532	-		66136939	-1	no_errors	ENST00000357440	ensembl	human	known	74_37	missense	SNP	0.786	T	T	66136939	G	T	66136939	3	4	230	1	0	0	0	0	1	0	0	0	14543	1145	40	3	1234	3	SLC29A2	11	66136939	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	3850729	66136939	68869577	55	18613											
TPCN2	219931	genome.wustl.edu	37	chr11	68855412	68855412	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcacccgcacctgtggctGtgcaggtgacgtccgggctg	15	14	0	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:68855412G>T	ENST00000294309.3	+	25	2351	c.2250G>T	c.(2248-2250)ctG>ctT	p.L750L	TPCN2_ENST00000542467.1_Silent_p.L568L|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	750					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTGTGGCTGTGCAGGTGAC	0.647																																																	0								ENSG00000162341						18	24	22					11																	68855412		2200	4294	6494	TPCN2	SO:0001819	synonymous_variant	0			-	HGNC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2250G>T	11.37:g.68855412G>T		Somatic	0	24	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q9NT82	Silent	SNP							pfam_Ion_trans_dom	p.L750	ENST00000294309.3	37	c.2250	CCDS8189.1	11																																																																																			-	NULL		0.647	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	protein_coding	OTTHUMT00000396878.2	G	NM_139075	-		68855412	1	no_errors	ENST00000294309	ensembl	human	known	74_37	silent	SNP	0.989	T	T	68855412	G	T	68855412	2	4	230	1	0	0	0	0	0	0	0	1	16403	1364	48	3		3	TPCN2	11	68855412	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	2718473	68855412	66151104	56	18614											
DLG2	1740	genome.wustl.edu	37	chr11	84996326	84996326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtcttctcccatttctGtaaaacttgattggcttctt	7	9	4	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:84996326G>A	ENST00000376104.2	-	4	435	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	DLG2_ENST00000543673.1_Nonsense_Mutation_p.Q42*	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCCATTTCTGTAAAACTTGA	0.348																																																	0								ENSG00000150672						222	198	205					11																	84996326		1568	3581	5149	DLG2	SO:0001587	stop_gained	0			-	HGNC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.124C>T	11.37:g.84996326G>A	ENSP00000365272:p.Gln42*	Somatic	0	59	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP							pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.Q42*	ENST00000376104.2	37	c.124	CCDS44690.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.198050	0.94997	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	.	.	.	5.88	3.93	0.45458	.	0.241793	0.26780	N	0.022539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0218	0.36204	0.0:0.3681:0.5138:0.1181	.	.	.	.	X	42	.	.	Q	-	1	0	DLG2	84673974	0.997000	0.39634	0.995000	0.50966	0.990000	0.78478	1.957000	0.40392	1.444000	0.47605	0.650000	0.86243	CAG	-	pirsf_M-assoc_guanylate_kinase		0.348	DLG2-003	KNOWN	basic|CCDS	protein_coding	DLG2	protein_coding	OTTHUMT00000259245.3	G	NM_001364	-		84996326	-1	no_errors	ENST00000376104	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	84996326	G	A	84996326	4	1	230	1	0	0	0	0	0	1	0	0	4557	1386	48	2	3108	2	DLG2	11	84996326	Nonsense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	16140914	84996326	50010190	57	18615											
HYLS1	219844	genome.wustl.edu	37	chr11	125770156	125770158	+	In_Frame_Del	DEL	CTT	CTT	-													gcttcccttccctctttctcCttcttaaatctttttaaact							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr11:125770156_125770158delCTT	ENST00000425380.2	+	3	1674_1676	c.893_895delCTT	c.(892-897)ccttct>cct	p.S299del	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_In_Frame_Del_p.S299del|HYLS1_ENST00000356438.3_In_Frame_Del_p.S299del|RP11-680F20.9_ENST00000533033.2_RNA	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	299						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCTCTTTCTCCTTCTTAAATCTT	0.409																																					Esophageal Squamous(172;2590 2636 8884 10471)												0								ENSG00000198331		,,	0,4264		0,0,2132					,,	5.3	1			69	1,8253		0,1,4126	no	coding,intron,coding	PUS3,HYLS1	NM_145014.2,NM_031307.3,NM_001134793.1	,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,	,,		1,12517				HYLS1	SO:0001651	inframe_deletion	0				HGNC	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.893_895delCTT	11.37:g.125770159_125770161delCTT	ENSP00000414884:p.Ser299del	Somatic	0	52	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	18	52.63	B3KXI8|Q96BX9	In_Frame_Del	DEL							NULL	p.S299in_frame_del	ENST00000425380.2	37	c.893_895	CCDS8467.1	11																																																																																			-	NULL		0.409	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYLS1	protein_coding	OTTHUMT00000386733.1	CTT	NM_145014			125770158	1	no_errors	ENST00000356438	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	125770158	CTT	-	125770156	7	5	230	1	0	1	0	1	0	0	0	0	7471	681	24	0	895	0	HYLS1	11	125770156	In_Frame_Del	DEL	CTT	TCGA-X2-A95T-01A-11D-A37C-09	40773830	125770156	9236360	58	18616											
SCNN1A	6337	genome.wustl.edu	37	chr12	6464514	6464514	+	Frame_Shift_Del	DEL	T	T	-													ccataaaggcaggttcatccTgcccgtgcaccattacccgg							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:6464514delT	ENST00000228916.2	-	6	1165	c.1067delA	c.(1066-1068)cagfs	p.Q356fs	SCNN1A_ENST00000360168.3_Frame_Shift_Del_p.Q415fs|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000540037.1_Frame_Shift_Del_p.Q56fs|SCNN1A_ENST00000358945.3_Frame_Shift_Del_p.Q356fs|SCNN1A_ENST00000396966.2_Frame_Shift_Del_p.Q356fs|SCNN1A_ENST00000543768.1_Frame_Shift_Del_p.Q379fs	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	356					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGTTCATCCTGCCCGTGCAC	0.587																																																	0								ENSG00000111319						57	48	51					12																	6464514		2203	4300	6503	SCNN1A	SO:0001589	frameshift_variant	0				HGNC	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1067delA	12.37:g.6464514delT	ENSP00000228916:p.Gln356fs	Somatic	0	32	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Frame_Shift_Del	DEL							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.Q356fs	ENST00000228916.2	37	c.1067	CCDS8543.1	12																																																																																			-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.587	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	protein_coding	OTTHUMT00000399055.1	T				6464514	-1	no_errors	ENST00000358945	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	6464514	T	-	6464514	7	5	230	1	0	1	0	1	0	0	0	0	13935	1580	55	0	974	0	SCNN1A	12	6464514	Frame_Shift_Del	DEL	T	TCGA-X2-A95T-01A-11D-A37C-09		6464514	127387381	59	18617											
PDE6H	5149	genome.wustl.edu	37	chr12	15132126	15132126	+	Frame_Shift_Del	DEL	A	A	-													tccatagatttggagatgacAttccaggaatggaggggcta							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:15132126delA	ENST00000266395.2	+	3	254	c.148delA	c.(148-150)attfs	p.I50fs		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	50					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	TGGAGATGACATTCCAGGAAT	0.408																																																	0								ENSG00000139053						104	97	99					12																	15132126		2203	4300	6503	PDE6H	SO:0001589	frameshift_variant	0				HGNC		CCDS8672.1	12p13	2008-03-18					3.1.4.17	"Phosphodiesterases"	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.148delA	12.37:g.15132126delA	ENSP00000266395:p.Ile50fs	Somatic	0	56	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	Q52LY7	Frame_Shift_Del	DEL							pfam_PDE6_gamma,pirsf_PDE6_gamma	p.I50fs	ENST00000266395.2	37	c.148	CCDS8672.1	12																																																																																			-	pfam_PDE6_gamma,pirsf_PDE6_gamma		0.408	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6H	protein_coding	OTTHUMT00000400880.1	A				15132126	1	no_errors	ENST00000266395	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	15132126	A	-	15132126	7	5	230	1	0	1	0	1	0	0	0	0	11652	217	8	0	154	0	PDE6H	12	15132126	Frame_Shift_Del	DEL	A	TCGA-X2-A95T-01A-11D-A37C-09	8667612	15132126	118719769	60	18618											
CPNE8	144402	genome.wustl.edu	37	chr12	39268274	39268274	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcaatacatacttactTggatcagatttagaaaatgt	7	6	1	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:39268274T>C	ENST00000331366.5	-	2	234	c.138A>G	c.(136-138)ccA>ccG	p.P46P	CPNE8_ENST00000360449.3_Splice_Site_p.P34P	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	46	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CATACTTACTTGGATCAGATT	0.274																																																	0								ENSG00000139117						45	51	49					12																	39268274		2203	4297	6500	CPNE8	SO:0001630	splice_region_variant	0			-	HGNC	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.139+1A>G	12.37:g.39268274T>C		Somatic	0	96	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	Q2TB41|Q86VY2	Silent	SNP							pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.P46	ENST00000331366.5	37	c.138	CCDS8733.1	12																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.274	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	protein_coding	OTTHUMT00000403856.1	T	NM_153634	-	Silent	39268274	-1	no_errors	ENST00000331366	ensembl	human	known	74_37	silent	SNP	1.000	C	C	39268274	T	C	39268274	5	2	230	1	0	0	0	0	0	0	1	0	3820	1826	63	5	1632	5	CPNE8	12	39268274	Splice_Site	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	24136148	39268274	94583621	61	18619											
MLL2	8085	genome.wustl.edu	37	chr12	49431874	49431874	+	Frame_Shift_Del	DEL	C	C	-													gcccaagggtcctggctccaCcccccgcagcagggcctccc							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:49431874delC	ENST00000301067.7	-	34	9264	c.9265delG	c.(9265-9267)gtgfs	p.V3089fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3089					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)	p.V2819fs*9(1)|p.V3089fs*9(1)									CCTGGCTCCACCCCCCGCAGC	0.622																																																	2	Insertion - Frameshift(2)	large_intestine(2)						ENSG00000167548						40	40	40					12																	49431874		1964	4143	6107	KMT2D	SO:0001589	frameshift_variant	0				HGNC	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.9265delG	12.37:g.49431874delC	ENSP00000301067:p.Val3089fs	Somatic	0	144	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	O14687	Frame_Shift_Del	DEL							pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.V3089fs	ENST00000301067.7	37	c.9265	CCDS44873.1	12																																																																																			-	NULL		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	protein_coding	OTTHUMT00000390183.2	C				49431874	-1	no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	DEL	0.784	-	-	49431874	C	-	49431874	7	5	230	1	0	1	0	1	0	0	0	0	9623	507	18	0	7432	0	MLL2	12	49431874	Frame_Shift_Del	DEL	C	TCGA-X2-A95T-01A-11D-A37C-09	10163600	49431874	84420021	62	18620											
STAT2	6773	genome.wustl.edu	37	chr12	56744659	56744659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactcattgccttcctggaGtctcaccagcagcctggggg	12	13	2	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:56744659G>T	ENST00000314128.4	-	11	1071	c.1048C>A	c.(1048-1050)Ctc>Atc	p.L350I	STAT2_ENST00000557235.1_Missense_Mutation_p.L346I|STAT2_ENST00000418572.2_Missense_Mutation_p.L346I|STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	350					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTTCCTGGAGTCTCACCAGC	0.532																																																	0								ENSG00000170581						101	95	97					12																	56744659		2203	4300	6503	STAT2	SO:0001583	missense	0			-	HGNC	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1048C>A	12.37:g.56744659G>T	ENSP00000315768:p.Leu350Ile	Somatic	0	49	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP							pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L350I	ENST00000314128.4	37	c.1048	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255653	0.59321	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	D;D;D	0.90261	-2.64;-2.64;-2.64	4.92	3.1	0.35709	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.139921	0.49305	D	0.000147	D	0.93815	0.8022	M	0.74467	2.265	0.39512	D	0.968373	D;P;D	0.76494	0.983;0.858;0.999	P;P;D	0.87578	0.867;0.729;0.998	D	0.92689	0.6165	10	0.49607	T	0.09	-15.4742	9.6083	0.39648	0.1961:0.0:0.8039:0.0	.	346;346;350	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	I	350;346;346	ENSP00000315768:L350I;ENSP00000450751:L346I;ENSP00000387354:L346I	ENSP00000315768:L350I	L	-	1	0	STAT2	55030926	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.608000	0.36847	0.613000	0.30089	0.462000	0.41574	CTC	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.532	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	protein_coding	OTTHUMT00000410277.1	G	NM_005419	-		56744659	-1	no_errors	ENST00000314128	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56744659	G	T	56744659	3	4	230	1	0	0	0	0	1	0	0	0	15272	1029	36	3	1563	3	STAT2	12	56744659	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	7312785	56744659	77107236	63	18621											
OS9	10956	genome.wustl.edu	37	chr12	58114250	58114250	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagagggtgcacgttgGctgactgatgaggacacgag	16	7	0	5			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:58114250G>A	ENST00000315970.7	+	14	1868	c.1827G>A	c.(1825-1827)tgG>tgA	p.W609*	OS9_ENST00000257966.8_Nonsense_Mutation_p.W555*|OS9_ENST00000435406.2_Nonsense_Mutation_p.W502*|OS9_ENST00000552285.1_Nonsense_Mutation_p.W554*|OS9_ENST00000389146.6_Nonsense_Mutation_p.W594*|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Nonsense_Mutation_p.W522*|OS9_ENST00000389142.5_Nonsense_Mutation_p.W539*|OS9_ENST00000413095.2_Nonsense_Mutation_p.W348*|OS9_ENST00000439210.2_Nonsense_Mutation_p.W480*	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	609					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGCACGTTGGCTGACTGATG	0.532																																																	0								ENSG00000135506						103	101	101					12																	58114250		2203	4300	6503	OS9	SO:0001587	stop_gained	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1827G>A	12.37:g.58114250G>A	ENSP00000318165:p.Trp609*	Somatic	0	61	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Nonsense_Mutation	SNP							pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.W609*	ENST00000315970.7	37	c.1827	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592723	0.66219	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	.	.	.	5.54	5.54	0.83059	.	0.066435	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.3968	0.83610	0.0:0.0:1.0:0.0	.	.	.	.	X	554;609;480;594;348;522;555;502;539	.	ENSP00000257966:W555X	W	+	3	0	OS9	56400517	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.150000	0.77403	2.606000	0.88127	0.655000	0.94253	TGG	-	NULL		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58114250	1	no_errors	ENST00000315970	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	58114250	G	A	58114250	4	1	230	1	0	0	0	0	0	1	0	0	11274	1212	42	2	1881	2	OS9	12	58114250	Nonsense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	1369591	58114250	75737645	64	18622											
SCYL2	55681	genome.wustl.edu	37	chr12	100732431	100732431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatgggcattggtatgatGttttctacaccaactgataa	8	8	1	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:100732431G>T	ENST00000360820.2	+	18	2708	c.2271G>T	c.(2269-2271)atG>atT	p.M757I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	757	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTGGTATGATGTTTTCTACAC	0.388																																																	0								ENSG00000136021						105	98	100					12																	100732431		2203	4300	6503	SCYL2	SO:0001583	missense	0			-	HGNC	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2271G>T	12.37:g.100732431G>T	ENSP00000354061:p.Met757Ile	Somatic	0	74	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.M757I	ENST00000360820.2	37	c.2271	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719771	0.15372	.	.	ENSG00000136021	ENST00000360820	T	0.28666	1.6	5.67	3.74	0.42951	.	0.566875	0.19470	N	0.113461	T	0.15305	0.0369	N	0.14661	0.345	0.27368	N	0.955771	B	0.09022	0.002	B	0.09377	0.004	T	0.04090	-1.0978	10	0.34782	T	0.22	-1.443	5.5014	0.16831	0.1435:0.0:0.6594:0.1971	.	757	Q6P3W7	SCYL2_HUMAN	I	757	ENSP00000354061:M757I	ENSP00000354061:M757I	M	+	3	0	SCYL2	99256562	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.660000	0.46749	2.832000	0.97577	0.585000	0.79938	ATG	-	NULL		0.388	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	protein_coding	OTTHUMT00000408493.2	G	NM_017988	-		100732431	1	no_errors	ENST00000360820	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100732431	G	T	100732431	3	4	230	1	0	0	0	0	1	0	0	0	13956	1377	48	3	2337	3	SCYL2	12	100732431	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	42618181	100732431	33119464	65	18623											
CRY1	1407	genome.wustl.edu	37	chr12	107391083	107391085	+	In_Frame_Del	DEL	CTA	CTA	-													ttcacttacttccactgctgCtacaacctgggatattttct							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	CTA	CTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr12:107391083_107391085delCTA	ENST00000008527.5	-	10	2439_2441	c.1572_1574delTAG	c.(1570-1575)tgtagc>tgc	p.S527del		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	527					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCCACTGCTGCTACAACCTGGGA	0.345																																																	0								ENSG00000008405																																			CRY1	SO:0001651	inframe_deletion	0				HGNC	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1572_1574delTAG	12.37:g.107391083_107391085delCTA	ENSP00000008527:p.Ser527del	Somatic	0	50	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38		In_Frame_Del	DEL							pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.S527in_frame_del	ENST00000008527.5	37	c.1574_1572	CCDS9112.1	12																																																																																			-	NULL		0.345	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	protein_coding	OTTHUMT00000406827.1	CTA	NM_004075			107391085	-1	no_errors	ENST00000008527	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	107391085	CTA	-	107391083	7	5	230	1	0	1	0	1	0	0	0	0	3905	797	28	0	198	0	CRY1	12	107391083	In_Frame_Del	DEL	CTA	TCGA-X2-A95T-01A-11D-A37C-09	6658652	107391083	26460812	66	18624											
EDDM3B	64184	genome.wustl.edu	37	chr14	21238473	21238473	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaatgtgatgtcctcatgaGagaaaatgaagctctgaaag	10	6	2	5			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr14:21238473G>T	ENST00000326783.3	+	2	262	c.164G>T	c.(163-165)aGa>aTa	p.R55I		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	55						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTCCTCATGAGAGAAAATGAA	0.393																																																	0								ENSG00000181552						109	105	107					14																	21238473		2203	4300	6503	EDDM3B	SO:0001583	missense	0			-	HGNC	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.164G>T	14.37:g.21238473G>T	ENSP00000314810:p.Arg55Ile	Somatic	0	32	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A0PK89	Missense_Mutation	SNP							pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	p.R55I	ENST00000326783.3	37	c.164	CCDS9557.1	14	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674038	0.47781	.	.	ENSG00000181552	ENST00000326783	T	0.74106	-0.81	4.05	-1.24	0.09435	Ribonuclease A, domain (3);	0.952198	0.08690	N	0.908176	T	0.69904	0.3163	L	0.53249	1.67	0.23533	N	0.997475	P	0.50943	0.94	P	0.47864	0.559	T	0.59643	-0.7416	10	0.59425	D	0.04	.	4.198	0.10452	0.442:0.186:0.3721:0.0	.	55	P56851	EP3B_HUMAN	I	55	ENSP00000314810:R55I	ENSP00000314810:R55I	R	+	2	0	EDDM3B	20308313	0.018000	0.18449	0.020000	0.16555	0.924000	0.55760	-0.138000	0.10374	-0.537000	0.06290	0.561000	0.74099	AGA	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.393	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3B	protein_coding	OTTHUMT00000073745.2	G		-		21238473	1	no_errors	ENST00000326783	ensembl	human	known	74_37	missense	SNP	0.027	T	T	21238473	G	T	21238473	3	4	230	1	0	0	0	0	1	0	0	0	4912	942	33	3	166	3	EDDM3B	14	21238473	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09		21238473	86111067	67	18625											
METTL3	56339	genome.wustl.edu	37	chr14	21967642	21967642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgctgctcaccaagcaGtgttccttcccatggttcaa	7	15	2	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr14:21967642G>A	ENST00000298717.4	-	8	1597	c.1446C>T	c.(1444-1446)caC>caT	p.H482H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	482					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)			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)		TCACCAAGCAGTGTTCCTTCC	0.438																																																	0								ENSG00000165819						158	150	153					14																	21967642		2203	4300	6503	METTL3	SO:0001819	synonymous_variant	0			-	HGNC	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.1446C>T	14.37:g.21967642G>A		Somatic	0	35	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	O14736|Q86V05|Q9HB32	Silent	SNP							pfam_MT-A70-like,pfscan_MT-A70-like	p.H482	ENST00000298717.4	37	c.1446	CCDS32044.1	14																																																																																			-	pfam_MT-A70-like,pfscan_MT-A70-like		0.438	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	protein_coding	OTTHUMT00000401227.1	G	NM_019852	-		21967642	-1	no_errors	ENST00000298717	ensembl	human	known	74_37	silent	SNP	1.000	A	A	21967642	G	A	21967642	2	1	230	1	0	0	0	0	0	0	0	1	9503	1020	36	2		2	METTL3	14	21967642	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	729169	21967642	85381898	68	18626											
SGPP1	81537	genome.wustl.edu	37	chr14	64153216	64153216	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcgggatgtgctccaGgtgtcaagagtgaaagaaaa	12	8	2	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr14:64153216G>T	ENST00000247225.6	-	3	1027	c.933C>A	c.(931-933)acC>acA	p.T311T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	311					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ATGTGCTCCAGGTGTCAAGAG	0.438																																																	0								ENSG00000126821						69	61	64					14																	64153216		2203	4300	6503	SGPP1	SO:0001819	synonymous_variant	0			-	HGNC	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.933C>A	14.37:g.64153216G>T		Somatic	0	74	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B2RAH0|Q9H189	Silent	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.T311	ENST00000247225.6	37	c.933	CCDS9760.1	14																																																																																			-	NULL		0.438	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	protein_coding	OTTHUMT00000072626.3	G	NM_030791	-		64153216	-1	no_errors	ENST00000247225	ensembl	human	known	74_37	silent	SNP	0.986	T	T	64153216	G	T	64153216	2	4	230	1	0	0	0	0	0	0	0	1	14227	987	35	3		3	SGPP1	14	64153216	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	42185574	64153216	43196324	69	18627											
PLEKHH1	57475	genome.wustl.edu	37	chr14	68038952	68038952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgagcacaaactgcaGcgcacctcatcctactccac	7	17	1	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr14:68038952G>T	ENST00000329153.5	+	11	1818	c.1686G>T	c.(1684-1686)caG>caT	p.Q562H		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	562						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)		ACAAACTGCAGCGCACCTCAT	0.662																																																	0								ENSG00000054690						30	32	31					14																	68038952		2080	4209	6289	PLEKHH1	SO:0001583	missense	0			-	HGNC	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.1686G>T	14.37:g.68038952G>T	ENSP00000330278:p.Gln562His	Somatic	0	97	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP							pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.Q562H	ENST00000329153.5	37	c.1686	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152983	0.57259	.	.	ENSG00000054690	ENST00000329153	T	0.72725	-0.68	4.61	3.63	0.41609	.	0.203798	0.44902	D	0.000417	T	0.74053	0.3666	L	0.59436	1.845	0.80722	D	1	D;P	0.62365	0.991;0.529	P;B	0.58970	0.849;0.281	T	0.71958	-0.4435	10	0.37606	T	0.19	.	7.7587	0.28940	0.1662:0.0:0.8338:0.0	.	77;562	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	H	562	ENSP00000330278:Q562H	ENSP00000330278:Q562H	Q	+	3	2	PLEKHH1	67108705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.745000	0.47459	2.387000	0.81309	0.555000	0.69702	CAG	-	NULL		0.662	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	protein_coding	OTTHUMT00000412730.3	G	XM_031054	-		68038952	1	no_errors	ENST00000329153	ensembl	human	known	74_37	missense	SNP	1.000	T	T	68038952	G	T	68038952	3	4	230	1	0	0	0	0	1	0	0	0	12078	962	34	3	1724	3	PLEKHH1	14	68038952	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	3885736	68038952	39310588	70	18628											
RAGE	5891	genome.wustl.edu	37	chr14	102718302	102718303	+	Frame_Shift_Ins	INS	-	-	T													ctggtacatatagtgcataaINStttttttttctgataatggg					rs145834415	byFrequency	TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr14:102718302_102718303insT	ENST00000361847.2	-	5	544_545	c.313_314insA	c.(313-315)attfs	p.I105fs	MOK_ENST00000522874.1_Frame_Shift_Ins_p.I105fs|MOK_ENST00000524214.1_Frame_Shift_Ins_p.I75fs|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	105	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)										ATAGTGCATAATTTTTTTTTCT	0.322																																																	0								ENSG00000080823																																			MOK	SO:0001589	frameshift_variant	0				HGNC	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.314dupA	14.37:g.102718311_102718311dupT	ENSP00000355304:p.Ile105fs	Somatic	0	52	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I105fs	ENST00000361847.2	37	c.314_313	CCDS9971.1	14																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.322	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	protein_coding	OTTHUMT00000380848.3	-				102718303	-1	no_errors	ENST00000361847	ensembl	human	known	74_37	frame_shift_ins	INS	0.044:0.007	T	T	102718303	-	T	102718302	7	5	230	1	0	1	1	0	0	0	0	0	13014	101	4	0	977	0	RAGE	14	102718302	Frame_Shift_Ins	INS	-	TCGA-X2-A95T-01A-11D-A37C-09	34679350	102718302	4631238	71	18629											
VPS13C	54832	genome.wustl.edu	37	chr15	62261502	62261502	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttatgggtattaccttcAatttcatgataatccaagct	5	7	2	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr15:62261502A>T	ENST00000261517.5	-	28	2980	c.2907T>A	c.(2905-2907)atT>atA	p.I969I	VPS13C_ENST00000249837.3_Silent_p.I926I|VPS13C_ENST00000395898.3_Silent_p.I926I|VPS13C_ENST00000395896.4_Silent_p.I969I	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						TATTACCTTCAATTTCATGAT	0.264																																																	0								ENSG00000129003						49	47	48					15																	62261502		2198	4284	6482	VPS13C	SO:0001819	synonymous_variant	0			-	HGNC	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.2907T>A	15.37:g.62261502A>T		Somatic	0	47	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Silent	SNP							pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.I969	ENST00000261517.5	37	c.2907	CCDS32257.1	15																																																																																			-	NULL		0.264	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	A	NM_017684	-		62261502	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	silent	SNP	1.000	T	T	62261502	A	T	62261502	2	4	230	1	0	0	0	0	0	0	0	1	17198	126	5	5		5	VPS13C	15	62261502	Silent	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09		62261502	40269890	72	18630											
TLN2	83660	genome.wustl.edu	37	chr15	63055879	63055879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcctggccacgagggaCgacatctctgtggaggtaag	15	10	1	1	rs370731939		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr15:63055879C>T	ENST00000561311.1	+	39	5309	c.5079C>T	c.(5077-5079)gaC>gaT	p.D1693D	TLN2_ENST00000472902.1_Silent_p.D86D|TLN2_ENST00000306829.6_Silent_p.D1693D			Q9Y4G6	TLN2_HUMAN	talin 2	1693					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCACGAGGGACGACATCTCTG	0.572																																																	0								ENSG00000171914						28	26	27					15																	63055879		2203	4300	6503	TLN2	SO:0001819	synonymous_variant	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5079C>T	15.37:g.63055879C>T		Somatic	0	33	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	12	65.71	A6NLB8	Silent	SNP							pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.D1693	ENST00000561311.1	37	c.5079	CCDS32261.1	15																																																																																			-	superfamily_Vinculin/catenin		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	C		-		63055879	1	no_errors	ENST00000306829	ensembl	human	known	74_37	silent	SNP	0.962	T	T	63055879	C	T	63055879	2	4	230	1	0	0	0	0	0	0	0	1	15955	535	19	1		1	TLN2	15	63055879	Silent	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	794377	63055879	39475513	73	18631											
HERC1	8925	genome.wustl.edu	37	chr15	63904735	63904735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggaacaatccaggacatCccttctcggactgcagccac	8	15	1	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr15:63904735C>T	ENST00000443617.2	-	77	14202	c.14115G>A	c.(14113-14115)ggG>ggA	p.G4705G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4705	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)			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						TCCAGGACATCCCTTCTCGGA	0.592																																																	0								ENSG00000103657						100	98	99					15																	63904735		2156	4253	6409	HERC1	SO:0001819	synonymous_variant	0			-	HGNC	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.14115G>A	15.37:g.63904735C>T		Somatic	0	85	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q8IW65	Silent	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.G4705	ENST00000443617.2	37	c.14115	CCDS45277.1	15																																																																																			-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.592	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	C	NM_003922	-		63904735	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	silent	SNP	0.304	T	T	63904735	C	T	63904735	2	4	230	1	0	0	0	0	0	0	0	1	7059	842	30	2		2	HERC1	15	63904735	Silent	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	848856	63904735	38626657	74	18632											
RSL1D1	26156	genome.wustl.edu	37	chr16	11941583	11941584	+	Frame_Shift_Del	DEL	TT	TT	-													ttctataaaactgttctgtcTtttcaggagttgaattgggt							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr16:11941583_11941584delTT	ENST00000571133.1	-	3	397_398	c.325_326delAA	c.(325-327)aagfs	p.K109fs	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	109					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						CTGTTCTGTCTTTTCAGGAGTT	0.337																																																	0								ENSG00000171490																																			RSL1D1	SO:0001589	frameshift_variant	0				HGNC	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.325_326delAA	16.37:g.11941585_11941586delTT	ENSP00000460871:p.Lys109fs	Somatic	0	68	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	31	48.33	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Frame_Shift_Del	DEL							pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like	p.K109fs	ENST00000571133.1	37	c.326_325	CCDS10551.1	16																																																																																			-	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like		0.337	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSL1D1	protein_coding	OTTHUMT00000252059.2	TT	NM_015659			11941584	-1	no_errors	ENST00000571133	ensembl	human	known	74_37	frame_shift_del	DEL	0.995:0.892	-	-	11941584	TT	-	11941583	7	5	230	1	0	1	0	1	0	0	0	0	13708	1609	56	0	1174	0	RSL1D1	16	11941583	Frame_Shift_Del	DEL	TT	TCGA-X2-A95T-01A-11D-A37C-09		11941583	78413170	75	18633											
SETD1A	9739	genome.wustl.edu	37	chr16	30992058	30992059	+	Splice_Site	DEL	AG	AG	-													ctccctgccgtgtgtctcacAggggacgaaccgcgtgctgt							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr16:30992058_30992059delAG	ENST00000262519.8	+	16	5267		c.e16-1			NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A						histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGTGTCTCACAGGGGACGAACC	0.678																																																	0								ENSG00000099381			1,4261		0,1,2130						4.3	1			42	0,8252		0,0,4126	no	splice-3	SETD1A	NM_014712.1		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SETD1A	SO:0001630	splice_region_variant	0				HGNC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4582-1AG>-	16.37:g.30992058_30992059delAG		Somatic	0	68	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	33	48.44	A6NP62|Q6PIF3|Q8TAJ6	Splice_Site	DEL							-	e15-1	ENST00000262519.8	37	c.4582-2_4582-1	CCDS32435.1	16																																																																																			-	-		0.678	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	AG	NM_014712		Intron	30992059	1	no_errors	ENST00000262519	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000	-	-	30992059	AG	-	30992058	8	5	230	1	0	1	0	1	0	0	1	0	14138	202	7	0	4638	0	SETD1A	16	30992058	Splice_Site	DEL	AG	TCGA-X2-A95T-01A-11D-A37C-09	19050475	30992058	59362695	76	18634											
NOD2	64127	genome.wustl.edu	37	chr16	50765685	50765685	+	Frame_Shift_Del	DEL	G	G	-													gggaacactttctctctagaGgaggttgacaagctcggctg							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr16:50765685delG	ENST00000300589.2	+	12	3183	c.3078delG	c.(3076-3078)gagfs	p.E1027fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1027					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTCTCTAGAGGAGGTTGACA	0.498																																																	0								ENSG00000167207						116	104	108					16																	50765685		2198	4300	6498	NOD2	SO:0001589	frameshift_variant	0				HGNC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.3078delG	16.37:g.50765685delG	ENSP00000300589:p.Glu1027fs	Somatic	0	51	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL							pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.E1027fs	ENST00000300589.2	37	c.3078	CCDS10746.1	16																																																																																			-	NULL		0.498	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	protein_coding	OTTHUMT00000256876.2	G	NM_022162			50765685	1	no_errors	ENST00000300589	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	50765685	G	-	50765685	7	5	230	1	0	1	0	1	0	0	0	0	10519	991	35	0	3124	0	NOD2	16	50765685	Frame_Shift_Del	DEL	G	TCGA-X2-A95T-01A-11D-A37C-09	19773627	50765685	39589068	77	18635											
COQ9	57017	genome.wustl.edu	37	chr16	57493517	57493519	+	In_Frame_Del	DEL	ACA	ACA	-													agccatgctggctgccatctAcaacacaacagagctggtga							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr16:57493517_57493519delACA	ENST00000262507.6	+	7	821_823	c.752_754delACA	c.(751-756)tacaac>tac	p.N252del	AC009052.12_ENST00000567090.1_RNA|COQ9_ENST00000567933.1_In_Frame_Del_p.N141del|POLR2C_ENST00000219252.5_5'Flank|COQ9_ENST00000567072.1_In_Frame_Del_p.N217del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	252					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GCTGCCATCTACAACACAACAGA	0.532																																																	0								ENSG00000088682																																			COQ9	SO:0001651	inframe_deletion	0				HGNC	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.752_754delACA	16.37:g.57493520_57493522delACA	ENSP00000262507:p.Asn252del	Somatic	0	36	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	5	78.26	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL							pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9	p.N252in_frame_del	ENST00000262507.6	37	c.752_754	CCDS32459.1	16																																																																																			-	pfam_COQ9,tigrfam_Ubiq_biosynth_COQ9		0.532	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ9	protein_coding	OTTHUMT00000432598.3	ACA	NM_020312			57493519	1	no_errors	ENST00000262507	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	57493519	ACA	-	57493517	7	5	230	1	0	1	0	1	0	0	0	0	3753	391	14	0	778	0	COQ9	16	57493517	In_Frame_Del	DEL	ACA	TCGA-X2-A95T-01A-11D-A37C-09	6727832	57493517	32861236	78	18636											
ATMIN	23300	genome.wustl.edu	37	chr16	81077734	81077735	+	Frame_Shift_Del	DEL	AT	AT	-													agtagcagagacagtaactcAtagtttgttacctcagaatg					rs535702865|rs541174089	byFrequency	TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr16:81077734_81077735delAT	ENST00000299575.4	+	4	1655_1656	c.1631_1632delAT	c.(1630-1632)catfs	p.H544fs	ATMIN_ENST00000566488.1_Frame_Shift_Del_p.H388fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.H388fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	544					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACAGTAACTCATAGTTTGTTAC	0.356																																																	0								ENSG00000166454																																			ATMIN	SO:0001589	frameshift_variant	0				HGNC	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1631_1632delAT	16.37:g.81077734_81077735delAT	ENSP00000299575:p.His544fs	Somatic	0	50	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	A8K4H8|Q68DC9	Frame_Shift_Del	DEL							smart_Znf_C2H2-like	p.H544fs	ENST00000299575.4	37	c.1631_1632	CCDS32494.1	16																																																																																			-	NULL		0.356	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	protein_coding	OTTHUMT00000432140.1	AT	NM_015251			81077735	1	no_errors	ENST00000299575	ensembl	human	known	74_37	frame_shift_del	DEL	0.052:0.000	-	-	81077735	AT	-	81077734	7	5	230	1	0	1	0	1	0	0	0	0	1110	217	8	0	1645	0	ATMIN	16	81077734	Frame_Shift_Del	DEL	AT	TCGA-X2-A95T-01A-11D-A37C-09	23584217	81077734	9277019	79	18637											
ACAP1	9744	genome.wustl.edu	37	chr17	7250169	7250169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcgcctcctgcagctGtgggtcagtgctgtgcagag	15	11	2	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr17:7250169G>A	ENST00000158762.3	+	13	1256	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	350	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCCTGCAGCTGTGGGTCAGTG	0.632																																																	0								ENSG00000072818						92	89	90					17																	7250169		2203	4300	6503	ACAP1	SO:0001819	synonymous_variant	0			-	HGNC	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1050G>A	17.37:g.7250169G>A		Somatic	0	38	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q53XN9	Silent	SNP							pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.L350	ENST00000158762.3	37	c.1050	CCDS11101.1	17																																																																																			-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.632	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	protein_coding	OTTHUMT00000220049.4	G	NM_014716	-		7250169	1	no_errors	ENST00000158762	ensembl	human	known	74_37	silent	SNP	0.998	A	A	7250169	G	A	7250169	2	1	230	1	0	0	0	0	0	0	0	1	118	1364	48	2		2	ACAP1	17	7250169	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09		7250169	73945041	80	18638											
TP53	7157	genome.wustl.edu	37	chr17	7579346	7579348	+	In_Frame_Del	DEL	AAG	AAG	-													acttggctgtcccagaatgcAagaagcccagacggaaaccg							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr17:7579346_7579348delAAG	ENST00000269305.4	-	4	528_530	c.339_341delCTT	c.(337-342)ttcttg>ttg	p.F113del	TP53_ENST00000455263.2_In_Frame_Del_p.F113del|TP53_ENST00000420246.2_In_Frame_Del_p.F113del|TP53_ENST00000413465.2_In_Frame_Del_p.F113del|TP53_ENST00000445888.2_In_Frame_Del_p.F113del|TP53_ENST00000359597.4_In_Frame_Del_p.F113del|TP53_ENST00000574684.1_5'Flank	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	113	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.L114*(4)|p.F113L(3)|p.G59fs*23(3)|p.F113C(2)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(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)	CCCAGAATGCAAGAAGCCCAGAC	0.601		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	31	Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(5)|Substitution - Nonsense(4)	lung(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|biliary_tract(1)|liver(1)|oesophagus(1)	GRCh37	CD084237	TP53	D		ENSG00000141510																																			TP53	SO:0001651	inframe_deletion	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;		HGNC	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.339_341delCTT	17.37:g.7579349_7579351delAAG	ENSP00000269305:p.Phe113del	Somatic	0	124	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	4	88.24	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	In_Frame_Del	DEL							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F113in_frame_del	ENST00000269305.4	37	c.341_339	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.601	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	AAG	NM_000546			7579348	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	DEL	0.998:1.000:1.000	-	-	7579348	AAG	-	7579346	7	5	230	1	0	1	0	1	0	0	0	0	16388	131	5	0	961	0	TP53	17	7579346	In_Frame_Del	DEL	AAG	TCGA-X2-A95T-01A-11D-A37C-09	329177	7579346	73615864	81	18639											
DHRS7C	201140	genome.wustl.edu	37	chr17	9675005	9675005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgtaggtcagcttccTgaaaaagactgaaaggcccc	10	13	1	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr17:9675005T>C	ENST00000330255.5	-	6	751	c.739A>G	c.(739-741)Agg>Ggg	p.R247G	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R246G	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	247					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GTCAGCTTCCTGAAAAAGACT	0.627																																																	0								ENSG00000184544						23	25	25					17																	9675005		1936	4140	6076	DHRS7C	SO:0001583	missense	0			-	HGNC		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.739A>G	17.37:g.9675005T>C	ENSP00000327975:p.Arg247Gly	Somatic	0	61	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B7ZW74|B9EJH3	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R247G	ENST00000330255.5	37	c.739	CCDS56020.1	17	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811749	0.50527	.	.	ENSG00000184544	ENST00000330255	T	0.51071	0.72	5.5	5.5	0.81552	NAD(P)-binding domain (1);	0.172208	0.64402	D	0.000005	T	0.42177	0.1191	L	0.47716	1.5	0.51482	D	0.999928	B;B	0.30021	0.265;0.126	B;B	0.24394	0.053;0.034	T	0.40098	-0.9581	10	0.62326	D	0.03	.	14.7364	0.69419	0.0:0.0:0.0:1.0	.	247;243	A6NNS2;B9EJH3	DRS7C_HUMAN;.	G	247	ENSP00000327975:R247G	ENSP00000327975:R247G	R	-	1	2	DHRS7C	9615730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.254000	0.78329	2.302000	0.77476	0.533000	0.62120	AGG	-	NULL		0.627	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	DHRS7C	protein_coding	OTTHUMT00000439863.1	T	XM_113912	-		9675005	-1	no_errors	ENST00000330255	ensembl	human	known	74_37	missense	SNP	1.000	C	C	9675005	T	C	9675005	3	2	230	1	0	0	0	0	1	0	0	0	4499	1579	55	5	203	5	DHRS7C	17	9675005	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	2095659	9675005	71520205	82	18640											
ERBB2	2064	genome.wustl.edu	37	chr17	37872823	37872823	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccgtgccaccctgagtgtCagccccagaatggctcagtg	12	14	2	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr17:37872823C>T	ENST00000269571.5	+	14	1861	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	ERBB2_ENST00000445658.2_Nonsense_Mutation_p.Q292*|ERBB2_ENST00000584450.1_Nonsense_Mutation_p.Q568*|ERBB2_ENST00000584601.1_Nonsense_Mutation_p.Q538*|ERBB2_ENST00000406381.2_Nonsense_Mutation_p.Q538*|ERBB2_ENST00000540042.1_Nonsense_Mutation_p.Q538*|ERBB2_ENST00000540147.1_Nonsense_Mutation_p.Q538*|ERBB2_ENST00000578199.1_Nonsense_Mutation_p.Q538*|ERBB2_ENST00000541774.1_Nonsense_Mutation_p.Q553*			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	568					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCCTGAGTGTCAGCCCCAGAA	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0								ENSG00000141736						79	67	71					17																	37872823		2203	4300	6503	ERBB2	SO:0001587	stop_gained	0			-	HGNC	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1702C>T	17.37:g.37872823C>T	ENSP00000269571:p.Gln568*	Somatic	0	43	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Nonsense_Mutation	SNP							pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q568*	ENST00000269571.5	37	c.1702	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.590034	0.98875	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	.	.	.	5.93	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6563	0.77136	0.0:0.8623:0.1377:0.0	.	.	.	.	X	538;553;292;568;538;538	.	ENSP00000269571:Q568X	Q	+	1	0	ERBB2	35126349	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.916000	0.48813	1.477000	0.48234	0.561000	0.74099	CAG	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	C		-		37872823	1	no_errors	ENST00000269571	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	37872823	C	T	37872823	4	4	230	1	0	0	0	0	0	1	0	0	5208	827	29	2	1756	2	ERBB2	17	37872823	Nonsense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	28197818	37872823	43322387	83	18641											
AANAT	15	genome.wustl.edu	37	chr17	74465965	74465965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacgccgtgggcccctgCgccatcaccgtgggctccct	11	19	1	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr17:74465965C>T	ENST00000392492.3	+	4	771	c.537C>T	c.(535-537)tgC>tgT	p.C179C	AANAT_ENST00000250615.3_Silent_p.C224C	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	179	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						TGGGCCCCTGCGCCATCACCG	0.697																																																	0								ENSG00000129673						18	16	17					17																	74465965		2201	4290	6491	AANAT	SO:0001819	synonymous_variant	0			-	HGNC	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"serotonin N-acetyltransferase"	600950	"arylalkylamine N-acetyltransferase"			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.537C>T	17.37:g.74465965C>T		Somatic	0	67	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	A0AVF2|J3KMZ5|Q562F4	Silent	SNP							pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.C224	ENST00000392492.3	37	c.672	CCDS11745.1	17																																																																																			-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.697	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AANAT	protein_coding	OTTHUMT00000450130.1	C	NM_001088	-		74465965	1	no_errors	ENST00000250615	ensembl	human	known	74_37	silent	SNP	0.020	T	T	74465965	C	T	74465965	2	4	230	1	0	0	0	0	0	0	0	1	18	776	27	1		1	AANAT	17	74465965	Silent	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09	36593142	74465965	6729245	84	18642											
ANKRD12	23253	genome.wustl.edu	37	chr18	9256921	9256921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagattcctgccatactaCagtgacaaccccaaggcctc	7	14	0	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr18:9256921C>T	ENST00000262126.4	+	9	3896	c.3656C>T	c.(3655-3657)aCa>aTa	p.T1219I	ANKRD12_ENST00000400020.3_Missense_Mutation_p.T1196I|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.T1196I	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1219						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						TGCCATACTACAGTGACAACC	0.423																																																	0								ENSG00000101745						68	71	70					18																	9256921		2202	4300	6502	ANKRD12	SO:0001583	missense	0			-	HGNC	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.3656C>T	18.37:g.9256921C>T	ENSP00000262126:p.Thr1219Ile	Somatic	0	44	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T1219I	ENST00000262126.4	37	c.3656	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486620	0.63962	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67698	-0.28;-0.28	5.79	5.79	0.91817	.	0.152217	0.64402	D	0.000018	T	0.75664	0.3880	M	0.67953	2.075	0.44918	D	0.997939	D;D	0.56746	0.977;0.961	P;P	0.51016	0.656;0.454	T	0.77900	-0.2415	10	0.72032	D	0.01	-26.1195	20.0417	0.97594	0.0:1.0:0.0:0.0	.	1196;1219	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	I	1196;1219	ENSP00000372932:T1196I;ENSP00000262126:T1219I	ENSP00000262126:T1219I	T	+	2	0	ANKRD12	9246921	0.999000	0.42202	0.373000	0.26003	0.985000	0.73830	4.625000	0.61262	2.736000	0.93811	0.655000	0.94253	ACA	-	NULL		0.423	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	C	NM_015208	-		9256921	1	no_errors	ENST00000262126	ensembl	human	known	74_37	missense	SNP	0.949	T	T	9256921	C	T	9256921	3	4	230	1	0	0	0	0	1	0	0	0	640	478	17	2	3686	2	ANKRD12	18	9256921	Missense_Mutation	SNP	C	TCGA-X2-A95T-01A-11D-A37C-09		9256921	68820327	85	18643											
MBD3L1	85509	genome.wustl.edu	37	chr19	8953669	8953669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttacacaggtggatctctGctggaggatcttgccagtgg	14	8	2	0	rs370088504		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr19:8953669G>T	ENST00000595891.1	+	3	546	c.315G>T	c.(313-315)ctG>ctT	p.L105L	MBD3L1_ENST00000305625.2_Silent_p.L105L			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GTGGATCTCTGCTGGAGGATC	0.532																																																	0								ENSG00000170948						92	79	84					19																	8953669		2203	4300	6503	MBD3L1	SO:0001819	synonymous_variant	0			-	HGNC	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"methyl-CpG binding domain protein 3-like"	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.315G>T	19.37:g.8953669G>T		Somatic	0	68	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	B5BUM6|Q2M291	Silent	SNP							NULL	p.L105	ENST00000595891.1	37	c.315	CCDS12209.1	19																																																																																			-	NULL		0.532	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L1	protein_coding	OTTHUMT00000459973.1	G	NM_145208	-		8953669	1	no_errors	ENST00000305625	ensembl	human	known	74_37	silent	SNP	0.000	T	T	8953669	G	T	8953669	2	4	230	1	0	0	0	0	0	0	0	1	9347	1306	46	3		3	MBD3L1	19	8953669	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09		8953669	50175314	86	18644											
SLC7A9	11136	genome.wustl.edu	37	chr19	33349358	33349358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctacctgcccgctgtgAagcaggtcccgttagcagca	10	16	0	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr19:33349358A>C	ENST00000023064.4	-	9	1156	c.965T>G	c.(964-966)tTc>tGc	p.F322C	SLC7A9_ENST00000587772.1_Missense_Mutation_p.F322C|SLC7A9_ENST00000590341.1_Missense_Mutation_p.F322C	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	322					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCCGCTGTGAAGCAGGTCCC	0.552																																					GBM(181;1335 2108 9644 44178 46689)												0								ENSG00000021488						73	59	64					19																	33349358		2203	4300	6503	SLC7A9	SO:0001583	missense	0			-	HGNC	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.965T>G	19.37:g.33349358A>C	ENSP00000023064:p.Phe322Cys	Somatic	0	37	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	B2R9A6	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.F322C	ENST00000023064.4	37	c.965	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310662	0.81358	.	.	ENSG00000021488	ENST00000023064	D	0.90620	-2.7	5.36	5.36	0.76844	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98748	1.0719	10	0.87932	D	0	.	15.3624	0.74487	1.0:0.0:0.0:0.0	.	322;322	Q53FY4;P82251	.;BAT1_HUMAN	C	322	ENSP00000023064:F322C	ENSP00000023064:F322C	F	-	2	0	SLC7A9	38041198	1.000000	0.71417	0.704000	0.30370	0.895000	0.52256	9.310000	0.96267	2.048000	0.60808	0.379000	0.24179	TTC	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.552	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	A		-		33349358	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	SNP	1.000	C	C	33349358	A	C	33349358	3	2	230	1	0	0	0	0	1	0	0	0	14713	246	9	5	518	5	SLC7A9	19	33349358	Missense_Mutation	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	24395689	33349358	25779625	87	18645											
IRF3	3661	genome.wustl.edu	37	chr19	50165229	50165230	+	Frame_Shift_Del	DEL	AC	AC	-													aatgaagggccccaggtcaaAcacgcctccttccttgtcct							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr19:50165229_50165230delAC	ENST00000597198.1	-	6	1338_1339	c.957_958delGT	c.(955-960)gtgtttfs	p.F320fs	IRF3_ENST00000377135.4_Intron|IRF3_ENST00000598808.1_Frame_Shift_Del_p.F174fs|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000593922.1_Frame_Shift_Del_p.F174fs|IRF3_ENST00000599144.1_Frame_Shift_Del_p.F174fs|IRF3_ENST00000377139.3_Frame_Shift_Del_p.F320fs|IRF3_ENST00000600911.1_Frame_Shift_Del_p.F320fs|IRF3_ENST00000309877.7_Frame_Shift_Del_p.F320fs|IRF3_ENST00000601291.1_Frame_Shift_Del_p.F320fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	320	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCAGGTCAAACACGCCTCCTT	0.609																																																	0								ENSG00000126456																																			IRF3	SO:0001589	frameshift_variant	0				HGNC		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.957_958delGT	19.37:g.50165231_50165232delAC	ENSP00000469113:p.Phe320fs	Somatic	0	67	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	28	42.86	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Frame_Shift_Del	DEL							pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F320fs	ENST00000597198.1	37	c.958_957	CCDS12775.1	19																																																																																			-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.609	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	protein_coding	OTTHUMT00000465962.1	AC	NM_001571			50165230	-1	no_errors	ENST00000309877	ensembl	human	known	74_37	frame_shift_del	DEL	0.004:0.003	-	-	50165230	AC	-	50165229	7	5	230	1	0	1	0	1	0	0	0	0	7833	43	2	0	337	0	IRF3	19	50165229	Frame_Shift_Del	DEL	AC	TCGA-X2-A95T-01A-11D-A37C-09	16815871	50165229	8963754	88	18646											
FUZ	80199	genome.wustl.edu	37	chr19	50315965	50315965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaacatgtggactccaTtgagggaaccgatgacagag	12	10	0	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr19:50315965T>C	ENST00000313777.4	-	2	303	c.140A>G	c.(139-141)aAt>aGt	p.N47S	FUZ_ENST00000533418.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000526575.1_Missense_Mutation_p.N47S|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.N47S|FUZ_ENST00000445575.2_Missense_Mutation_p.N47S	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	47					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GTGGACTCCATTGAGGGAACC	0.572																																																	0								ENSG00000010361						104	93	97					19																	50315965		2203	4300	6503	FUZ	SO:0001583	missense	0			-	HGNC	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.140A>G	19.37:g.50315965T>C	ENSP00000313309:p.Asn47Ser	Somatic	0	51	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67	B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP							NULL	p.N47S	ENST00000313777.4	37	c.140	CCDS12781.1	19	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681243	0.88542	.	.	ENSG00000010361	ENST00000525130;ENST00000528094;ENST00000529634;ENST00000525370;ENST00000313777;ENST00000445575;ENST00000421740;ENST00000526575	T;T;T;T;T;T	0.72167	-0.46;-0.45;-0.46;-0.61;-0.63;-0.46	5.41	5.41	0.78517	.	0.055575	0.64402	D	0.000002	D	0.82939	0.5146	M	0.75085	2.285	0.49130	D	0.999754	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.87578	0.879;0.996;0.998	D	0.85087	0.0949	10	0.87932	D	0	-11.0987	13.0152	0.58753	0.0:0.0:0.0:1.0	.	47;47;47	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	S	47	ENSP00000433492:N47S;ENSP00000435177:N47S;ENSP00000431420:N47S;ENSP00000313309:N47S;ENSP00000408018:N47S;ENSP00000433164:N47S	ENSP00000313309:N47S	N	-	2	0	FUZ	55007777	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.324000	0.65863	2.076000	0.62316	0.374000	0.22700	AAT	-	NULL		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	protein_coding	OTTHUMT00000393986.1	T	NM_025129	-		50315965	-1	no_errors	ENST00000313777	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50315965	T	C	50315965	3	2	230	1	0	0	0	0	1	0	0	0	6114	1493	52	5	1156	5	FUZ	19	50315965	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	150736	50315965	8813018	89	18647											
ZNF610	162963	genome.wustl.edu	37	chr19	52869510	52869510	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaaatgtaacgaatgTggcaaagcttttagagagtg	10	7	1	1			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr19:52869510T>A	ENST00000403906.3	+	6	1335	c.879T>A	c.(877-879)tgT>tgA	p.C293*	ZNF610_ENST00000321287.8_Nonsense_Mutation_p.C293*|ZNF610_ENST00000327920.8_Nonsense_Mutation_p.C293*|ZNF610_ENST00000601151.1_Nonsense_Mutation_p.C250*	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	293					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTAACGAATGTGGCAAAGCTT	0.403																																																	0								ENSG00000167554						53	49	51					19																	52869510		2203	4300	6503	ZNF610	SO:0001587	stop_gained	0			-	HGNC	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.879T>A	19.37:g.52869510T>A	ENSP00000383922:p.Cys293*	Somatic	0	42	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A8K4C3|Q86YH8|Q8NDS9	Nonsense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C293*	ENST00000403906.3	37	c.879	CCDS12851.1	19	.	.	.	.	.	.	.	.	.	.	T	36	5.623769	0.96660	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	.	.	.	1.69	0.578	0.17391	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9031	0.13784	0.0:0.3321:0.0:0.6679	.	.	.	.	X	293;250;293	.	ENSP00000324441:C250X	C	+	3	2	ZNF610	57561322	1.000000	0.71417	0.037000	0.18230	0.267000	0.26476	1.659000	0.37387	-0.071000	0.12886	-0.736000	0.03550	TGT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	protein_coding	OTTHUMT00000462880.1	T	NM_173530	-		52869510	1	no_errors	ENST00000321287	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	52869510	T	A	52869510	4	1	230	1	0	0	0	0	0	1	0	0	18043	1702	59	5	893	5	ZNF610	19	52869510	Nonsense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	2553545	52869510	6259473	90	18648											
ZNF551	90233	genome.wustl.edu	37	chr19	58199223	58199223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccggagaattcatactgGcacaagaccttatgagtgca	9	10	1	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr19:58199223G>A	ENST00000282296.5	+	3	1765	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.G511D|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	527					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATTCATACTGGCACAAGACCT	0.448																																																	0								ENSG00000204519						82	78	80					19																	58199223		2203	4300	6503	ZNF551	SO:0001583	missense	0			-	HGNC	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1580G>A	19.37:g.58199223G>A	ENSP00000282296:p.Gly527Asp	Somatic	0	75	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G527D	ENST00000282296.5	37	c.1580	CCDS12959.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.717304|2.717304	0.48622|0.48622	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.31|2.31	1.21|1.21	0.21127|0.21127	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.517850|.	0.04499|.	U|.	0.380852|.	T|T	0.65678|0.65678	0.2714|0.2714	M|M	0.64080|0.64080	1.96|1.96	0.37962|0.37962	D|D	0.932998|0.932998	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.64123|0.64123	-0.6481|-0.6481	7|7	0.41790|.	T|.	0.15|.	.|.	4.1836|4.1836	0.10387|0.10387	0.1369:0.0:0.64:0.2231|0.1369:0.0:0.64:0.2231	.|.	.|527	.|Q7Z340	.|ZN551_HUMAN	V|D	61|527;511;310	.|.	ENSP00000437781:A61V|.	A|G	-|+	2|2	0|0	AC004017.1|ZNF551	62891035|62891035	0.994000|0.994000	0.37717|0.37717	0.009000|0.009000	0.14445|0.14445	0.020000|0.020000	0.10135|0.10135	2.204000|2.204000	0.42761|0.42761	0.283000|0.283000	0.22279|0.22279	0.561000|0.561000	0.74099|0.74099	GCC|GGC	-	pfscan_Znf_C2H2		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	protein_coding	OTTHUMT00000466803.2	G	NM_138347	-		58199223	1	no_errors	ENST00000282296	ensembl	human	known	74_37	missense	SNP	0.911	A	A	58199223	G	A	58199223	3	1	230	1	0	0	0	0	1	0	0	0	17990	1203	42	2	1542	2	ZNF551	19	58199223	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	5329713	58199223	929760	91	18649											
C20orf72	92667	genome.wustl.edu	37	chr20	17956397	17956398	+	Frame_Shift_Del	DEL	AG	AG	-													tcaccccaggaaaccttaaaAgagagagatgaaaatctcct							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr20:17956397_17956398delAG	ENST00000377710.5	+	3	870_871	c.582_583delAG	c.(580-585)aaagagfs	p.E195fs	MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377709.1_Frame_Shift_Del_p.E115fs	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		AAACCTTAAAAGAGAGAGATGA	0.436																																																	0								ENSG00000125871																																			MGME1	SO:0001589	frameshift_variant	0				HGNC		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"chromosome 20 open reading frame 72"	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.582_583delAG	20.37:g.17956403_17956404delAG	ENSP00000366939:p.Glu195fs	Somatic	0	53	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	36	32.08		Frame_Shift_Del	DEL							superfamily_Restrct_endonuc-II-like	p.D197fs	ENST00000377710.5	37	c.582_583	CCDS13131.1	20																																																																																			-	NULL		0.436	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGME1	protein_coding	OTTHUMT00000078139.1	AG	NM_052865			17956398	1	no_errors	ENST00000377710	ensembl	human	known	74_37	frame_shift_del	DEL	0.395:0.212	-	-	17956398	AG	-	17956397	7	5	230	1	0	1	0	1	0	0	0	0	2120	69	3	0	588	0	C20orf72	20	17956397	Frame_Shift_Del	DEL	AG	TCGA-X2-A95T-01A-11D-A37C-09		17956397	45069123	92	18650											
MMP24	10893	genome.wustl.edu	37	chr20	33834715	33834715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcactcagcgaaggccTtgcagtcggcagtctccact	11	15	2	0			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr20:33834715T>A	ENST00000246186.6	+	2	404	c.319T>A	c.(319-321)Ttg>Atg	p.L107M	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	107					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	AGCGAAGGCCTTGCAGTCGGC	0.507																																																	0								ENSG00000125966						140	135	136					20																	33834715		2041	4209	6250	MMP24	SO:0001583	missense	0			-	HGNC	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.319T>A	20.37:g.33834715T>A	ENSP00000246186:p.Leu107Met	Somatic	0	79	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7ZBG8|Q9H440	Missense_Mutation	SNP							pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.L107M	ENST00000246186.6	37	c.319	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921531	0.33908	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.42900	0.96	5.5	4.37	0.52481	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.161011	0.51477	D	0.000100	T	0.18002	0.0432	N	0.04820	-0.15	0.28673	N	0.905519	B	0.24618	0.107	B	0.28553	0.091	T	0.07673	-1.0760	10	0.22109	T	0.4	.	2.8322	0.05503	0.1357:0.0805:0.1593:0.6244	.	107	Q9Y5R2	MMP24_HUMAN	M	107;55	ENSP00000246186:L107M	ENSP00000246186:L107M	L	+	1	2	MMP24	33298131	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.168000	0.31859	2.310000	0.77875	0.450000	0.29827	TTG	-	pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.507	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	protein_coding	OTTHUMT00000078851.4	T	NM_006690	-		33834715	1	no_errors	ENST00000246186	ensembl	human	known	74_37	missense	SNP	1.000	A	A	33834715	T	A	33834715	3	1	230	1	0	0	0	0	1	0	0	0	9663	1606	56	5	75	5	MMP24	20	33834715	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	15878318	33834715	29190805	93	18651											
SLC9A8	23315	genome.wustl.edu	37	chr20	48481298	48481298	+	Frame_Shift_Del	DEL	G	G	-													gctgaagcatattgacttgaGgaaaacgccttccttggagt							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr20:48481298delG	ENST00000361573.2	+	10	917	c.875delG	c.(874-876)aggfs	p.R292fs	SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.R73fs|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Frame_Shift_Del_p.R308fs			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	292					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ATTGACTTGAGGAAAACGCCT	0.453																																																	0								ENSG00000197818						221	146	171					20																	48481298		2203	4300	6503	SLC9A8	SO:0001589	frameshift_variant	0				HGNC	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.875delG	20.37:g.48481298delG	ENSP00000354966:p.Arg292fs	Somatic	0	49	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Del	DEL							pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T310fs	ENST00000361573.2	37	c.923	CCDS13421.1	20																																																																																			-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.453	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	protein_coding	OTTHUMT00000106483.3	G	XM_030524			48481298	1	no_errors	ENST00000417961	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	48481298	G	-	48481298	7	5	230	1	0	1	0	1	0	0	0	0	14728	1000	35	0	913	0	SLC9A8	20	48481298	Frame_Shift_Del	DEL	G	TCGA-X2-A95T-01A-11D-A37C-09	14646583	48481298	14544222	94	18652											
RTEL1	51750	genome.wustl.edu	37	chr20	62321658	62321658	+	Frame_Shift_Del	DEL	G	G	-													gttctgcagatgccagcgccGgccccccgggctacagcacc							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr20:62321658delG	ENST00000360203.5	+	26	2602	c.2277delG	c.(2275-2277)ccgfs	p.P759fs	RTEL1_ENST00000508582.2_Frame_Shift_Del_p.P783fs|RTEL1_ENST00000370018.3_Frame_Shift_Del_p.P759fs|RTEL1-TNFRSF6B_ENST00000482936.1_Frame_Shift_Del_p.P759fs|RTEL1_ENST00000370003.1_Frame_Shift_Del_p.P4fs|RTEL1_ENST00000318100.4_Frame_Shift_Del_p.P759fs					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGCCAGCGCCGGCCCCCCGGG	0.632																																																	0								ENSG00000258366						40	44	43					20																	62321658		2194	4294	6488	RTEL1	SO:0001589	frameshift_variant	0				HGNC	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2277delG	20.37:g.62321658delG	ENSP00000353332:p.Pro759fs	Somatic	0	53	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76		Frame_Shift_Del	DEL							pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A760fs	ENST00000360203.5	37	c.2277		20																																																																																			-	NULL		0.632	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	protein_coding	OTTHUMT00000289781.1	G	NM_032957			62321658	1	no_errors	ENST00000318100	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	62321658	G	-	62321658	7	5	230	1	0	1	0	1	0	0	0	0	13728	1103	39	0	2375	0	RTEL1	20	62321658	Frame_Shift_Del	DEL	G	TCGA-X2-A95T-01A-11D-A37C-09	13840360	62321658	703862	95	18653											
MICALL1	85377	genome.wustl.edu	37	chr22	38323604	38323605	+	Frame_Shift_Del	DEL	CT	CT	-													ccctggtacccctggaaaccCtgtcagcctctctaccaact							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr22:38323604_38323605delCT	ENST00000215957.6	+	9	1778_1779	c.1652_1653delCT	c.(1651-1653)cctfs	p.P551fs	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	551	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)					CCTGGAAACCCTGTCAGCCTCT	0.629																																																	0								ENSG00000100139																																			MICALL1	SO:0001589	frameshift_variant	0				HGNC	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.1652_1653delCT	22.37:g.38323604_38323605delCT	ENSP00000215957:p.Pro551fs	Somatic	0	129	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	8	86.67	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Frame_Shift_Del	DEL							pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P551fs	ENST00000215957.6	37	c.1652_1653	CCDS13961.1	22																																																																																			-	NULL		0.629	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	protein_coding	OTTHUMT00000319545.4	CT	NM_033386			38323605	1	no_errors	ENST00000215957	ensembl	human	known	74_37	frame_shift_del	DEL	0.572:0.475	-	-	38323605	CT	-	38323604	7	5	230	1	0	1	0	1	0	0	0	0	9575	681	24	0	1686	0	MICALL1	22	38323604	Frame_Shift_Del	DEL	CT	TCGA-X2-A95T-01A-11D-A37C-09		38323604	12980962	96	18654											
PLXNB2	23654	genome.wustl.edu	37	chr22	50718148	50718148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgcatccaccgggccctTttccacctgatgtttgatgg	9	14	0	2			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chr22:50718148T>C	ENST00000449103.1	-	27	4440	c.4300A>G	c.(4300-4302)Aag>Gag	p.K1434E	PLXNB2_ENST00000359337.4_Missense_Mutation_p.K1434E			O15031	PLXB2_HUMAN	plexin B2	1434					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCGGGCCCTTTTCCACCTGA	0.602																																																	0								ENSG00000196576						149	164	159					22																	50718148		1950	4134	6084	PLXNB2	SO:0001583	missense	0			-	HGNC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4300A>G	22.37:g.50718148T>C	ENSP00000409171:p.Lys1434Glu	Somatic	0	90	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	4	86.67	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP							pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K1434E	ENST00000449103.1	37	c.4300	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259702	0.80246	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.23348	1.91;1.91	4.17	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.58264	0.2110	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69468	-0.5137	10	0.87932	D	0	.	13.6445	0.62272	0.0:0.0:0.0:1.0	.	1434	O15031	PLXB2_HUMAN	E	1434;1434;66	ENSP00000409171:K1434E;ENSP00000352288:K1434E	ENSP00000352288:K1434E	K	-	1	0	PLXNB2	49060275	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	5.876000	0.69667	1.867000	0.54127	0.379000	0.24179	AAG	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.602	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	T	NM_012401	-		50718148	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	SNP	1.000	C	C	50718148	T	C	50718148	3	2	230	1	0	0	0	0	1	0	0	0	12126	1850	64	5	1260	5	PLXNB2	22	50718148	Missense_Mutation	SNP	T	TCGA-X2-A95T-01A-11D-A37C-09	12394544	50718148	586418	97	18655											
PRPS2	5634	genome.wustl.edu	37	chrX	12837656	12837656	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgcagacaggttgaatgtGgaatttgctttgatccacaa	10	6	0	3			TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chrX:12837656G>T	ENST00000380668.5	+	5	689	c.561G>T	c.(559-561)gtG>gtT	p.V187V	PRPS2_ENST00000398491.2_Silent_p.V190V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	187					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GGTTGAATGTGGAATTTGCTT	0.478																																																	0								ENSG00000101911						224	192	202					X																	12837656		2203	4300	6503	PRPS2	SO:0001819	synonymous_variant	0			-	HGNC	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.561G>T	X.37:g.12837656G>T		Somatic	0	49	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP							pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.V190	ENST00000380668.5	37	c.570	CCDS14150.1	X																																																																																			-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase		0.478	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	protein_coding	OTTHUMT00000055772.2	G	NM_002765	-		12837656	1	no_errors	ENST00000398491	ensembl	human	known	74_37	silent	SNP	1.000	T	T	12837656	G	T	12837656	2	4	230	1	0	0	0	0	0	0	0	1	12585	1335	47	3		3	PRPS2	23	12837656	Silent	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09		12837656	142432904	98	18656											
ERAS	3266	genome.wustl.edu	37	chrX	48688026	48688026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagatgctcatgccGctgctgcagccctcgcacac	11	16	1	1	rs199842596		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chrX:48688026G>T	ENST00000338270.1	+	1	744	c.493G>T	c.(493-495)Gct>Tct	p.A165S	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	165					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.A165S(1)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGCTCATGCCGCTGCTGCAGC	0.647																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000187682						30	25	27					X																	48688026		2203	4300	6503	ERAS	SO:0001583	missense	0			-	HGNC	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.493G>T	X.37:g.48688026G>T	ENSP00000339136:p.Ala165Ser	Somatic	0	75	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04		Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A165S	ENST00000338270.1	37	c.493	CCDS35246.1	X	.	.	.	.	.	.	.	.	.	.	g	8.947	0.967252	0.18659	.	.	ENSG00000187682	ENST00000338270	T	0.76316	-1.01	4.66	2.9	0.33743	Small GTP-binding protein domain (1);	0.000000	0.37857	N	0.001909	T	0.67906	0.2943	L	0.28608	0.87	0.09310	N	1	P	0.39576	0.679	B	0.42916	0.402	T	0.60732	-0.7205	10	0.66056	D	0.02	.	8.2142	0.31501	0.2006:0.0:0.7994:0.0	.	165	Q7Z444	RASE_HUMAN	S	165	ENSP00000339136:A165S	ENSP00000339136:A165S	A	+	1	0	ERAS	48572970	0.062000	0.20869	0.006000	0.13384	0.274000	0.26718	1.073000	0.30691	0.524000	0.28502	0.597000	0.82753	GCT	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.647	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAS	protein_coding	OTTHUMT00000132402.1	G	NM_181532	-		48688026	1	no_errors	ENST00000338270	ensembl	human	known	74_37	missense	SNP	0.006	T	T	48688026	G	T	48688026	3	4	230	1	0	0	0	0	1	0	0	0	5207	1087	38	3	495	3	ERAS	23	48688026	Missense_Mutation	SNP	G	TCGA-X2-A95T-01A-11D-A37C-09	35850370	48688026	106582534	99	18657											
ATRX	546	genome.wustl.edu	37	chrX	76939473	76939474	+	Frame_Shift_Del	DEL	TT	TT	-													tgctctttggtatttttctcTttgtttacagcatccatcgc							TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chrX:76939473_76939474delTT	ENST00000373344.5	-	9	1488_1489	c.1274_1275delAA	c.(1273-1275)aaafs	p.K425fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K387fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	425					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATTTTTCTCTTTGTTTACAGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1274_1275delAA	X.37:g.76939473_76939474delTT	ENSP00000362441:p.Lys425fs	Somatic	0	53	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	3	83.33	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K425fs	ENST00000373344.5	37	c.1275_1274	CCDS14434.1	X																																																																																			-	NULL		0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TT	NM_000489			76939474	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	0.312:0.307	-	-	76939474	TT	-	76939473	7	5	230	1	0	1	0	1	0	0	0	0	1208	1606	56	0	6311	0	ATRX	23	76939473	Frame_Shift_Del	DEL	TT	TCGA-X2-A95T-01A-11D-A37C-09	28251447	76939473	78331087	100	18658											
SLC25A5	292	genome.wustl.edu	37	chrX	118603830	118603830	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggtgtggacaagagAacccagttttggctctactt	13	8	1	1	rs73637847		TCGA-X2-A95T-01A-11D-A37C-09	TCGA-X2-A95T-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae14da4-7965-48f3-919d-f1a4d02028a4	9de98674-1ec6-4f41-99e7-4628c6bd23f5	g.chrX:118603830A>G	ENST00000317881.8	+	2	434	c.318A>G	c.(316-318)agA>agG	p.R106R	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	106					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)	p.R106R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	TGGACAAGAGAACCCAGTTTT	0.517																																																	1	Substitution - coding silent(1)	stomach(1)						ENSG00000005022						106	104	105					X																	118603830		2203	4300	6503	SLC25A5	SO:0001819	synonymous_variant	0			-	HGNC	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.318A>G	X.37:g.118603830A>G		Somatic	0	41	0		0.704592969675288				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	16	44.83	B2RCV1|O43350	Silent	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.R106	ENST00000317881.8	37	c.318	CCDS14578.1	X																																																																																			-	superfamily_Mt_carrier_dom		0.517	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	protein_coding	OTTHUMT00000058952.2	A	NM_001152	rs73637847		118603830	1	no_errors	ENST00000317881	ensembl	human	known	74_37	silent	SNP	0.998	G	G	118603830	A	G	118603830	2	3	230	1	0	0	0	0	0	0	0	1	14520	243	9	5		5	SLC25A5	23	118603830	Silent	SNP	A	TCGA-X2-A95T-01A-11D-A37C-09	41664357	118603830	36666730	101	18659											
CHD5	26038	genome.wustl.edu	37	chr1	6195407	6195407	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggtcatgcagcttcTtgatctggtcttccttggag	11	11	4	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:6195407T>A	ENST00000262450.3	-	18	2852	c.2753A>T	c.(2752-2754)aAg>aTg	p.K918M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGCAGCTTCTTGATCTGGTC	0.582																																																	0								ENSG00000116254						77	76	76					1																	6195407		2203	4300	6503	CHD5	SO:0001583	missense	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2753A>T	1.37:g.6195407T>A	ENSP00000262450:p.Lys918Met	Somatic	0	60	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	49	27.94	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP							pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K918M	ENST00000262450.3	37	c.2753	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429596	0.83776	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93426	-3.22	4.8	4.8	0.61643	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95188	0.8305	10	0.87932	D	0	-37.9288	14.6572	0.68841	0.0:0.0:0.0:1.0	.	918	Q8TDI0	CHD5_HUMAN	M	918;434;326;326	ENSP00000262450:K918M	ENSP00000262450:K918M	K	-	2	0	CHD5	6117994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.854000	0.86942	1.938000	0.56188	0.459000	0.35465	AAG	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	T	NM_015557	-		6195407	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6195407	T	A	6195407	3	1	231	1	0	0	0	0	1	0	0	0	3330	1609	56	5	3207	5	CHD5	1	6195407	Missense_Mutation	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09		6195407	243055214	1	18660											
CTRC	11330	genome.wustl.edu	37	chr1	15768968	15768968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggacctaccgtgtggccGtgggaaagaacaacctggag	14	12	0	1	rs367979183		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:15768968G>A	ENST00000375949.4	+	4	282	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CTRC_ENST00000375943.2_Silent_p.P22P|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V86M(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGTGGCCGTGGGAAAGAA	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000162438	G	MET/VAL	0,4406		0,0,2203	132	87	102		256	2.5	1	1		102	1,8599		0,1,4299	no	missense	CTRC	NM_007272.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	86/269	15768968	1,13005	2203	4300	6503	CTRC	SO:0001583	missense	0			-	HGNC	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.256G>A	1.37:g.15768968G>A	ENSP00000365116:p.Val86Met	Somatic	0	104	0		0.630342926830615	0	100	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	16	72.41	A8K082|O00765|Q9NUH5	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V86M	ENST00000375949.4	37	c.256	CCDS156.1	1	.	.	.	.	.	.	.	.	.	.	.	6.056	0.378699	0.11466	0.0	1.16E-4	ENSG00000162438	ENST00000375949	D	0.89552	-2.53	4.39	2.52	0.30459	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.239260	0.35436	N	0.003206	D	0.83142	0.5190	L	0.53729	1.69	0.80722	D	1	B;B	0.29612	0.251;0.039	B;B	0.23018	0.043;0.017	T	0.81104	-0.1084	10	0.59425	D	0.04	-11.4298	7.8498	0.29448	0.0:0.5931:0.3171:0.0898	.	86;86	A8MTQ9;Q99895	.;CTRC_HUMAN	M	86	ENSP00000365116:V86M	ENSP00000365116:V86M	V	+	1	0	CTRC	15641555	0.004000	0.15560	0.999000	0.59377	0.017000	0.09413	-0.006000	0.12833	1.204000	0.43247	-0.234000	0.12200	GTG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.617	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRC	protein_coding	OTTHUMT00000006435.1	G	NM_007272	-		15768968	1	no_errors	ENST00000375949	ensembl	human	known	74_37	missense	SNP	0.336	A	A	15768968	G	A	15768968	3	1	231	1	0	0	0	0	1	0	0	0	4029	1145	40	1	270	1	CTRC	1	15768968	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	9573561	15768968	233481653	2	18661											
PIK3R3	8503	genome.wustl.edu	37	chr1	46546420	46546420	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaggtggctttggtggaaGagctagaagagaaatgaata	14	3	0	4			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:46546420G>T	ENST00000262741.5	-	2	798	c.109C>A	c.(109-111)Ctt>Att	p.L37I	PIK3R3_ENST00000540385.1_Missense_Mutation_p.L83I|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L37I|PIK3R3_ENST00000354242.4_Missense_Mutation_p.L37I|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L37I|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L37I	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	37	Pro-rich.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTTGGTGGAAGAGCTAGAAGA	0.393																																																	0								ENSG00000117461						198	208	204					1																	46546420		2203	4300	6503	PIK3R3	SO:0001583	missense	0			-	HGNC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.109C>A	1.37:g.46546420G>T	ENSP00000262741:p.Leu37Ile	Somatic	0	119	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	53	23.19	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L83I	ENST00000262741.5	37	c.247	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158795	0.57368	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	T;T;T;D;T;D;T	0.82255	-1.42;-1.42;-1.42;-1.59;-1.45;-1.59;0.88	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.76838	2.35	0.80722	D	1	D;P;B;B	0.71674	0.998;0.717;0.437;0.278	D;B;B;B	0.77557	0.99;0.165;0.143;0.051	D	0.89887	0.4034	10	0.37606	T	0.19	.	17.591	0.87997	0.0:0.0:1.0:0.0	.	83;70;37;37	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	I	37;37;37;37;83;37;37	ENSP00000361075:L37I;ENSP00000262741:L37I;ENSP00000412546:L37I;ENSP00000346188:L37I;ENSP00000439913:L83I;ENSP00000391431:L37I;ENSP00000416647:L37I	ENSP00000262741:L37I	L	-	1	0	PIK3R3	46319007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.543000	0.82106	2.521000	0.84997	0.467000	0.42956	CTT	-	NULL		0.393	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	protein_coding	OTTHUMT00000022171.1	G	NM_003629	-		46546420	-1	no_errors	ENST00000540385	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46546420	G	T	46546420	3	4	231	1	0	0	0	0	1	0	0	0	11922	942	33	3	1312	3	PIK3R3	1	46546420	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	30777452	46546420	202704201	3	18662											
C1orf103	55791	genome.wustl.edu	37	chr1	111492742	111492742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatgccatctcattatGgatctggaattaggaaaaga	10	5	2	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:111492742G>T	ENST00000369763.4	-	3	1990	c.1600C>A	c.(1600-1602)Cat>Aat	p.H534N	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_5'UTR|LRIF1_ENST00000494675.1_5'UTR	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	534					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						ATCTCATTATGGATCTGGAAT	0.323																																																	0								ENSG00000121931						71	67	69					1																	111492742		2203	4300	6503	LRIF1	SO:0001583	missense	0			-	HGNC	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.1600C>A	1.37:g.111492742G>T	ENSP00000358778:p.His534Asn	Somatic	0	38	0		0.630342926830615	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	19.05	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP							NULL	p.H534N	ENST00000369763.4	37	c.1600	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721241	0.48728	.	.	ENSG00000121931	ENST00000369763	T	0.32515	1.45	5.5	5.5	0.81552	.	0.386525	0.23851	N	0.043958	T	0.08492	0.0211	N	0.08118	0	0.30184	N	0.800136	B	0.16396	0.017	B	0.13407	0.009	T	0.12553	-1.0543	10	0.46703	T	0.11	-0.1321	14.8796	0.70522	0.0:0.0:1.0:0.0	.	534	Q5T3J3	LRIF1_HUMAN	N	534	ENSP00000358778:H534N	ENSP00000358778:H534N	H	-	1	0	LRIF1	111294265	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.094000	0.50227	2.587000	0.87381	0.563000	0.77884	CAT	-	NULL		0.323	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	protein_coding	OTTHUMT00000032932.2	G	NM_018372	-		111492742	-1	no_errors	ENST00000369763	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111492742	G	T	111492742	3	4	231	1	0	0	0	0	1	0	0	0	1979	1348	47	3	717	3	C1orf103	1	111492742	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	64946322	111492742	137757879	4	18663											
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150529523	150529523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgtcccccagcttcagCcgggtaagactctgacccct	8	19	2	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:150529523C>T	ENST00000369038.2	+	9	2059	c.1858C>T	c.(1858-1860)Ccg>Tcg	p.P620S	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P643S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P620S|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P620S			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	620	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCAGCTTCAGCCGGGTAAGAC	0.602																																																	0								ENSG00000143382						61	77	72					1																	150529523		2201	4299	6500	ADAMTSL4	SO:0001583	missense	0			-	HGNC	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1858C>T	1.37:g.150529523C>T	ENSP00000358034:p.Pro620Ser	Somatic	0	71	0		0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP							pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.P643S	ENST00000369038.2	37	c.1927	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529389	0.27387	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.61859	0.17;0.07;0.36;0.07	5.05	2.99	0.34606	.	.	.	.	.	T	0.18341	0.0440	L	0.27053	0.805	0.09310	N	0.999998	B;B;B	0.20052	0.008;0.005;0.041	B;B;B	0.17722	0.011;0.005;0.019	T	0.10613	-1.0622	9	0.23302	T	0.38	.	4.0498	0.09790	0.0:0.5944:0.2238:0.1818	.	643;620;620	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	S	620;620;158;643;620	ENSP00000358037:P620S;ENSP00000271643:P620S;ENSP00000358035:P643S;ENSP00000358034:P620S	ENSP00000271643:P620S	P	+	1	0	ADAMTSL4	148796147	0.528000	0.26314	0.060000	0.19600	0.087000	0.18053	0.935000	0.28924	1.321000	0.45227	0.655000	0.94253	CCG	-	NULL		0.602	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding	OTTHUMT00000084395.4	C	NM_019032	-		150529523	1	no_errors	ENST00000369039	ensembl	human	known	74_37	missense	SNP	0.108	T	T	150529523	C	T	150529523	3	4	231	1	0	0	0	0	1	0	0	0	277	739	26	2	1892	2	ADAMTSL4	1	150529523	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	39036781	150529523	98721098	5	18664											
GBA	2629	genome.wustl.edu	37	chr1	155205042	155205042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcagtgccactgcgtcCaggtcgttcttctgactggc	11	13	3	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:155205042C>T	ENST00000327247.5	-	11	1681	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	GBA_ENST00000427500.3_Silent_p.L434L|GBA_ENST00000428024.3_Silent_p.L396L|GBA_ENST00000368373.3_Silent_p.L483L|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_Silent_p.L370L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	483			L -> P (in GD1 and GD2; common mutation; associated with susceptibility to Parkinson disease; gene conversion; very low activity; alters protein stability). {ECO:0000269|PubMed:10360404, ECO:0000269|PubMed:10447266, ECO:0000269|PubMed:10796875, ECO:0000269|PubMed:15605411, ECO:0000269|PubMed:19286695, ECO:0000269|PubMed:7627184, ECO:0000269|PubMed:8937765, ECO:0000269|PubMed:9061570, ECO:0000269|PubMed:9217217, ECO:0000269|PubMed:9851895}.|L -> R (in GD; severe).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CCACTGCGTCCAGGTCGTTCT	0.582									Gaucher disease type I																																								0								ENSG00000177628						98	85	90					1																	155205042		2203	4300	6503	GBA	SO:0001819	synonymous_variant	0	Familial Cancer Database	glucocerebrosidase insufficiency	-	HGNC	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1449G>A	1.37:g.155205042C>T		Somatic	0	128	0		0.630342926830615	425	32.27	203	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP							pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30	p.L483	ENST00000327247.5	37	c.1449	CCDS1102.1	1																																																																																			-	pfam_Glyco_hydro_30		0.582	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	protein_coding	OTTHUMT00000087204.1	C	NM_000157	-		155205042	-1	no_errors	ENST00000327247	ensembl	human	known	74_37	silent	SNP	1.000	T	T	155205042	C	T	155205042	2	4	231	1	0	0	0	0	0	0	0	1	6268	581	21	2		2	GBA	1	155205042	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	4675519	155205042	94045579	6	18665											
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220355632	220355632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctaagaccagccgactcCaaagtgtgacacatatcctc	9	13	0	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr1:220355632C>A	ENST00000358951.2	-	21	2393	c.2277G>T	c.(2275-2277)ttG>ttT	p.L759F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	759					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGCCGACTCCAAAGTGTGAC	0.428																																																	0								ENSG00000118873						144	135	138					1																	220355632		2203	4300	6503	RAB3GAP2	SO:0001583	missense	0			-	HGNC	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2277G>T	1.37:g.220355632C>A	ENSP00000351832:p.Leu759Phe	Somatic	0	72	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	8	73.33	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP							superfamily_WD40_repeat_dom	p.L759F	ENST00000358951.2	37	c.2277	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708572	0.89018	.	.	ENSG00000118873	ENST00000358951	T	0.36157	1.27	5.82	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.40794	-0.9544	10	0.31617	T	0.26	.	14.7822	0.69774	0.0:0.9308:0.0:0.0692	.	759	Q9H2M9	RBGPR_HUMAN	F	759	ENSP00000351832:L759F	ENSP00000351832:L759F	L	-	3	2	RAB3GAP2	218422255	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	1.961000	0.40432	1.465000	0.48006	0.650000	0.86243	TTG	-	NULL		0.428	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	protein_coding	OTTHUMT00000090205.2	C	NM_012414	-		220355632	-1	no_errors	ENST00000358951	ensembl	human	known	74_37	missense	SNP	1.000	A	A	220355632	C	A	220355632	3	1	231	1	0	0	0	0	1	0	0	0	12944	593	21	3	1964	3	RAB3GAP2	1	220355632	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	65150590	220355632	28894989	7	18666											
TMEM163	81615	genome.wustl.edu	37	chr2	135260492	135260492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttctgggagcagcctagTtgagaggtcatggatggctt	14	8	2	1	rs371144714		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr2:135260492T>G	ENST00000281924.6	-	5	599	c.535A>C	c.(535-537)Act>Cct	p.T179P		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	179						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		AGCAGCCTAGTTGAGAGGTCA	0.507																																																	0								ENSG00000152128						128	104	112					2																	135260492		2203	4300	6503	TMEM163	SO:0001583	missense	0			-	HGNC		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.535A>C	2.37:g.135260492T>G	ENSP00000281924:p.Thr179Pro	Somatic	0	161	0		0.630342926830615	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	76	18.28	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP							NULL	p.T179P	ENST00000281924.6	37	c.535	CCDS2172.1	2	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800594	0.70567	.	.	ENSG00000152128	ENST00000281924	T	0.63913	-0.07	6.06	6.06	0.98353	.	0.172694	0.49916	D	0.000122	T	0.69824	0.3154	L	0.44542	1.39	0.41969	D	0.990744	D	0.60575	0.988	P	0.61201	0.885	T	0.67296	-0.5706	10	0.30854	T	0.27	.	15.5919	0.76537	0.0:0.0:0.0:1.0	.	179	Q8TC26	TM163_HUMAN	P	179	ENSP00000281924:T179P	ENSP00000281924:T179P	T	-	1	0	TMEM163	134976962	1.000000	0.71417	0.326000	0.25389	0.994000	0.84299	7.114000	0.77103	2.324000	0.78689	0.533000	0.62120	ACT	-	NULL		0.507	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	protein_coding	OTTHUMT00000254631.2	T	NM_030923	-		135260492	-1	no_errors	ENST00000281924	ensembl	human	known	74_37	missense	SNP	0.932	G	G	135260492	T	G	135260492	3	3	231	1	0	0	0	0	1	0	0	0	16085	1725	60	5	350	5	TMEM163	2	135260492	Missense_Mutation	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09		135260492	107938881	8	18667											
LRP2	4036	genome.wustl.edu	37	chr2	170012824	170012824	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcggtcactcatagaCgtgaagccatcagcacagac	11	13	3	3			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr2:170012824C>A	ENST00000263816.3	-	65	12396	c.12111G>T	c.(12109-12111)acG>acT	p.T4037T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4037	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.T4037T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACTCATAGACGTGAAGCCAT	0.438																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000081479						190	175	180					2																	170012824		2203	4300	6503	LRP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12111G>T	2.37:g.170012824C>A		Somatic	0	189	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	91	15.74	O00711|Q16215	Silent	SNP							pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T4037	ENST00000263816.3	37	c.12111	CCDS2232.1	2																																																																																			-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	C	NM_004525	-		170012824	-1	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	SNP	0.070	A	A	170012824	C	A	170012824	2	1	231	1	0	0	0	0	0	0	0	1	8958	523	19	3		3	LRP2	2	170012824	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	34752332	170012824	73186549	9	18668											
C3orf23	285343	genome.wustl.edu	37	chr3	44437985	44437985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaacacttaaaaaagcAaaaggtaaacattttccatt	5	6	0	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr3:44437985A>G	ENST00000342649.4	+	7	1216	c.789A>G	c.(787-789)gcA>gcG	p.A263A	TCAIM_ENST00000417237.1_Silent_p.A263A	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	263						mitochondrion (GO:0005739)											TTAAAAAAGCAAAAGGTAAAC	0.403																																																	0								ENSG00000179152						31	30	30					3																	44437985		2203	4300	6503	TCAIM	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.789A>G	3.37:g.44437985A>G		Somatic	0	73	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	13	71.11	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP							NULL	p.A263	ENST00000342649.4	37	c.789	CCDS2712.1	3																																																																																			-	NULL		0.403	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	protein_coding	OTTHUMT00000256655.2	A	NM_173826	-		44437985	1	no_errors	ENST00000342649	ensembl	human	known	74_37	silent	SNP	0.000	G	G	44437985	A	G	44437985	2	3	231	1	0	0	0	0	0	0	0	1	2218	117	5	5		5	C3orf23	3	44437985	Silent	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09		44437985	153584445	10	18669											
C3orf71	646450	genome.wustl.edu	37	chr3	48955912	48955920	+	In_Frame_Del	DEL	GGGGTGTAG	GGGGTGTAG	-													ggccaccctgcgaccgcctcGgggtgtaggcagaatttccc							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	GGGGTGTAG	GGGGTGTAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr3:48955912_48955920delGGGGTGTAG	ENST00000408959.2	-	1	898_906	c.663_671delCTACACCCC	c.(661-672)gcctacaccccg>gcg	p.YTP222del	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	222						integral component of membrane (GO:0016021)											CGACCGCCTCGGGGTGTAGGCAGAATTTC	0.641																																																	0								ENSG00000221883																																			ARIH2OS	SO:0001651	inframe_deletion	0				HGNC	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.663_671delCTACACCCC	3.37:g.48955912_48955920delGGGGTGTAG	ENSP00000386193:p.Tyr222_Pro224del	Somatic					0.630342926830615	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1					In_Frame_Del	DEL							NULL	p.YTP222in_frame_del	ENST00000408959.2	37	c.671_663	CCDS43088.1	3																																																																																			-	NULL		0.641	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2OS	protein_coding	OTTHUMT00000345247.1	GGGGTGTAG	NM_001123040			48955920	-1	no_errors	ENST00000408959	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000	-	-	48955920	GGGGTGTAG	-	48955912	7	5	231	1	0	1	0	1	0	0	0	0	2245	1116	39	0	205	0	C3orf71	3	48955912	In_Frame_Del	DEL	GGGGTGTAG	TCGA-X6-A7W8-01A-21D-A351-09	4517927	48955912	149066518	11	18670											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55108235	55108254	+	3'UTR	DEL	ACTGACTGAGATGTTCTCTT	ACTGACTGAGATGTTCTCTT	-													gatgctcttctcaaggtgacActgactgagatgttctctta					rs71948046	byFrequency	TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	ACTGACTGAGATGTTCTCTT	ACTGACTGAGATGTTCTCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr3:55108235_55108254delACTGACTGAGATGTTCTCTT	ENST00000474759.1	+	0	3326_3345				CACNA2D3_ENST00000288197.5_3'UTR|CACNA2D3_ENST00000490478.1_3'UTR|CACNA2D3_ENST00000415676.2_3'UTR|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							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)	TCAAGGTGACACTGACTGAGATGTTCTCTTACTGACTGAG	0.473														668	0.133387	0.1884	0.121	5008	,	,		22755	0.0139		0.2207	False		,,,				2504	0.1012																0								ENSG00000157445			448,3498		60,328,1585						5.5	1		dbSNP_130	149	1311,6685		189,933,2876	no	utr-3	CACNA2D3	NM_018398.2		249,1261,4461	A1A1,A1R,RR		16.3957,11.3533,14.7295				1759,10183				CACNA2D3	SO:0001624	3_prime_UTR_variant	0				HGNC	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.*21ACTGACTGAGATGTTCTCTT>-	3.37:g.55108235_55108254delACTGACTGAGATGTTCTCTT		Somatic					0.630342926830615	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RPL6|Q9NY16|Q9NY18	RNA	DEL							-	NULL	ENST00000474759.1	37	NULL	CCDS54598.1	3																																																																																			-	-		0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	ACTGACTGAGATGTTCTCTT				55108254	1	no_errors	ENST00000478261	ensembl	human	known	74_37	rna	DEL	0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.994:0.995:0.995:0.995:0.996:0.996:0.997:0.997:0.998	-	-	55108254	ACTGACTGAGATGTTCTCTT	-	55108235	6	5	231	0	1	1	0	1	0	0	0	0	2552	174	6	0		0	CACNA2D3	3	55108235	3'UTR	DEL	ACTGACTGAGATGTTCTCTT	TCGA-X6-A7W8-01A-21D-A351-09	6152323	55108235	142914195	12	18671											
CD200	4345	genome.wustl.edu	37	chr3	112068589	112068589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagttccgctattgctaaGcattgtttccctggtaattc	7	10	1	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr3:112068589G>T	ENST00000315711.8	+	5	782	c.725G>T	c.(724-726)aGc>aTc	p.S242I	CD200_ENST00000383681.3_Missense_Mutation_p.S168I|CD200_ENST00000473539.1_Missense_Mutation_p.S267I	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	242					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTATTGCTAAGCATTGTTTCC	0.403																																																	0								ENSG00000091972						130	117	121					3																	112068589		2203	4300	6503	CD200	SO:0001583	missense	0			-	HGNC		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7203	protein-coding gene	gene with protein product		155970	"antigen identified by monoclonal antibody MRC OX-2", "CD200 antigen"	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.725G>T	3.37:g.112068589G>T	ENSP00000312766:p.Ser242Ile	Somatic	0	128	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	33	56.58	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP							pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S267I	ENST00000315711.8	37	c.800	CCDS2965.1	3	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744500	0.69418	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.71222	1.09;-0.55;-0.51	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000003	T	0.75019	0.3793	L	0.29908	0.895	0.31198	N	0.700125	D;D;D;D;D	0.76494	0.999;0.997;0.995;0.997;0.997	D;D;D;D;D	0.80764	0.942;0.994;0.986;0.994;0.994	T	0.74140	-0.3761	10	0.39692	T	0.17	-20.6995	14.1585	0.65432	0.0:0.0:1.0:0.0	.	242;168;168;242;267	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	I	242;267;168	ENSP00000312766:S242I;ENSP00000420298:S267I;ENSP00000373179:S168I	ENSP00000312766:S242I	S	+	2	0	CD200	113551279	1.000000	0.71417	0.993000	0.49108	0.682000	0.39822	2.836000	0.48183	2.696000	0.92011	0.655000	0.94253	AGC	-	NULL		0.403	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200	protein_coding	OTTHUMT00000354078.1	G		-		112068589	1	no_errors	ENST00000473539	ensembl	human	known	74_37	missense	SNP	0.856	T	T	112068589	G	T	112068589	3	4	231	1	0	0	0	0	1	0	0	0	2982	971	34	3	822	3	CD200	3	112068589	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	56960354	112068589	85953841	13	18672											
MME	4311	genome.wustl.edu	37	chr3	154834539	154834539	+	Frame_Shift_Del	DEL	C	C	-													tagcaacagaaaactgggagCaaaaatatggtaaggcaatt							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr3:154834539delC	ENST00000460393.1	+	6	646	c.526delC	c.(526-528)caafs	p.Q176fs	MME_ENST00000492661.1_Frame_Shift_Del_p.Q176fs|MME_ENST00000493237.1_Frame_Shift_Del_p.Q176fs|MME_ENST00000462745.1_Frame_Shift_Del_p.Q176fs|MME_ENST00000360490.2_Frame_Shift_Del_p.Q176fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	176					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AAACTGGGAGCAAAAATATGG	0.338																																																	0								ENSG00000196549						55	57	56					3																	154834539		2200	4300	6500	MME	SO:0001589	frameshift_variant	0				HGNC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.526delC	3.37:g.154834539delC	ENSP00000418525:p.Gln176fs	Somatic	0	66	0		0.630342926830615	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A8K6U6|D3DNJ9|Q3MIX4	Frame_Shift_Del	DEL							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Q176fs	ENST00000460393.1	37	c.526	CCDS3172.1	3																																																																																			-	pfam_Peptidase_M13_N		0.338	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	protein_coding	OTTHUMT00000351076.1	C	NM_000902			154834539	1	no_errors	ENST00000360490	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	154834539	C	-	154834539	7	5	231	1	0	1	0	1	0	0	0	0	9647	711	25	0	544	0	MME	3	154834539	Frame_Shift_Del	DEL	C	TCGA-X6-A7W8-01A-21D-A351-09	42765950	154834539	43187891	14	18673											
CCKAR	886	genome.wustl.edu	37	chr4	26483563	26483563	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcgttggcgctgaagatGggcatccagcacaggaagaa	15	9	0	3			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr4:26483563G>T	ENST00000295589.3	-	5	1178	c.984C>A	c.(982-984)ccC>ccA	p.P328P		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	328					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGCTGAAGATGGGCATCCAGC	0.607																																																	0								ENSG00000163394						119	102	108					4																	26483563		2203	4300	6503	CCKAR	SO:0001819	synonymous_variant	0			-	HGNC	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.984C>A	4.37:g.26483563G>T		Somatic	0	99	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R9Z5	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.P328	ENST00000295589.3	37	c.984	CCDS3438.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn		0.607	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	protein_coding	OTTHUMT00000250418.2	G		-		26483563	-1	no_errors	ENST00000295589	ensembl	human	known	74_37	silent	SNP	1.000	T	T	26483563	G	T	26483563	2	4	231	1	0	0	0	0	0	0	0	1	2882	1335	47	3		3	CCKAR	4	26483563	Silent	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		26483563	164670713	15	18674											
ARL9	132946	genome.wustl.edu	37	chr4	57389863	57389863	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttattccactccggatgaagGatcttgaagcagcctatcac	8	11	2	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr4:57389863G>T	ENST00000360096.2	+	4	507	c.193G>T	c.(193-195)Gat>Tat	p.D65Y		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	129					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					CCGGATGAAGGATCTTGAAGC	0.383																																																	0								ENSG00000196503						92	85	87					4																	57389863		1884	4122	6006	ARL9	SO:0001630	splice_region_variant	0			-	HGNC	AY439003	CCDS59474.1	4q12	2014-05-09				ENSG00000196503		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23592	protein-coding gene	gene with protein product		612405					Standard	NM_206919		Approved		uc003hby.1	Q6T311		ENST00000360096.2:c.193-1G>T	4.37:g.57389863G>T		Somatic	0	104	0		0.630342926830615	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP							pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.D65Y	ENST00000360096.2	37	c.193	CCDS59474.1	4	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013405	0.75161	.	.	ENSG00000196503	ENST00000360096	.	.	.	5.32	5.32	0.75619	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90535	0.7034	H	0.98525	4.255	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.93925	0.7209	7	.	.	.	-23.1328	16.8642	0.86025	0.0:0.0:1.0:0.0	.	129	Q6T311	ARL9_HUMAN	Y	129	.	.	D	+	1	0	ARL9	57084620	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.659000	0.83766	2.639000	0.89480	0.557000	0.71058	GAT	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase		0.383	ARL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL9	protein_coding	OTTHUMT00000467724.1	G	NM_206919	-	Missense_Mutation	57389863	1	no_errors	ENST00000360096	ensembl	human	known	74_37	missense	SNP	1.000	T	T	57389863	G	T	57389863	5	4	231	1	0	0	0	0	0	0	1	0	948	1188	41	3	203	3	ARL9	4	57389863	Splice_Site	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	30906300	57389863	133764413	16	18675											
YTHDC1	91746	genome.wustl.edu	37	chr4	69202908	69202908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcctcctcctcctcttc	0	24	3	0	rs548927284	byFrequency	TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr4:69202908C>T	ENST00000344157.4	-	4	1055	c.720G>A	c.(718-720)gaG>gaA	p.E240E	YTHDC1_ENST00000355665.3_Silent_p.E240E|YTHDC1_ENST00000579690.1_Silent_p.E240E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	240	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cctcctcctcctcttcctcct	0.478																																																	0								ENSG00000083896						141	100	114					4																	69202908		2203	4300	6503	YTHDC1	SO:0001819	synonymous_variant	0			-	HGNC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.720G>A	4.37:g.69202908C>T		Somatic	0	52	0		0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP							pfam_YTH_domain,pfscan_YTH_domain	p.E240	ENST00000344157.4	37	c.720	CCDS33992.1	4																																																																																			-	NULL		0.478	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	protein_coding	OTTHUMT00000251437.1	C	NM_133370	-		69202908	-1	no_errors	ENST00000344157	ensembl	human	known	74_37	silent	SNP	0.914	T	T	69202908	C	T	69202908	2	4	231	1	0	0	0	0	0	0	0	1	17503	680	24	2		2	YTHDC1	4	69202908	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	11813045	69202908	121951368	17	18676											
ARHGEF38	54848	genome.wustl.edu	37	chr4	106474052	106474052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttgagagcagtgtttctGgggaccactctggcaccttg	14	9	2	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr4:106474052G>T	ENST00000420470.2	+	1	274	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	AC004066.3_ENST00000514879.1_RNA|ARHGEF38_ENST00000265154.2_Missense_Mutation_p.G44W	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	44						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						CAGTGTTTCTGGGGACCACTC	0.448																																																	0								ENSG00000236699						85	81	82					4																	106474052		2203	4300	6503	ARHGEF38	SO:0001583	missense	0			-	HGNC	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"Rho guanine nucleotide exchange factors"	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.130G>T	4.37:g.106474052G>T	ENSP00000416125:p.Gly44Trp	Somatic	0	82	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	C9JIB4	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain	p.G44W	ENST00000420470.2	37	c.130	CCDS56338.1	4	.	.	.	.	.	.	.	.	.	.	G	6.671	0.492371	0.12702	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.55930	1.91;0.49	5.87	4.14	0.48551	.	0.444321	0.24265	N	0.040050	T	0.59824	0.2222	L	0.59436	1.845	0.29569	N	0.850075	D	0.56287	0.975	P	0.54889	0.763	T	0.60944	-0.7162	10	0.72032	D	0.01	-26.2336	10.4921	0.44756	0.0735:0.1363:0.7903:0.0	.	44	Q9NXL2	ARH38_HUMAN	W	44	ENSP00000265154:G44W;ENSP00000416125:G44W	ENSP00000265154:G44W	G	+	1	0	ARHGEF38	106693501	1.000000	0.71417	0.944000	0.38274	0.066000	0.16364	4.652000	0.61454	1.483000	0.48342	-0.165000	0.13383	GGG	-	NULL		0.448	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	ARHGEF38	protein_coding	OTTHUMT00000336934.3	G	NM_017700	-		106474052	1	no_errors	ENST00000265154	ensembl	human	known	74_37	missense	SNP	0.977	T	T	106474052	G	T	106474052	3	4	231	1	0	0	0	0	1	0	0	0	907	1348	47	3	132	3	ARHGEF38	4	106474052	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	37271144	106474052	84680224	18	18677											
GAR1	54433	genome.wustl.edu	37	chr4	110743600	110743600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtggtggcaggggaggccGaggaggaggaagaggaggag	25	3	0	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr4:110743600G>A	ENST00000226796.6	+	5	791	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	GAR1_ENST00000394631.3_Missense_Mutation_p.R176Q	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	176	RGG-box 2.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)	p.R176L(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						aggggaggccgaggaggagga	0.498																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000109534						33	33	33					4																	110743600		2203	4300	6503	GAR1	SO:0001583	missense	0			-	HGNC	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.527G>A	4.37:g.110743600G>A	ENSP00000226796:p.Arg176Gln	Somatic	0	88	0		0.630342926830615	167	33.86	86	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	49	30.99	Q5MJQ2	Missense_Mutation	SNP							pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel	p.R176Q	ENST00000226796.6	37	c.527	CCDS34050.1	4	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575622	0.65878	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	T;T	0.28895	1.59;1.59	5.33	4.49	0.54785	.	0.193513	0.40728	N	0.001028	T	0.32704	0.0838	M	0.61703	1.905	0.46061	D	0.998843	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09907	-1.0653	10	0.48119	T	0.1	.	13.6471	0.62288	0.0759:0.0:0.9241:0.0	.	176;176	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	Q	176	ENSP00000378127:R176Q;ENSP00000226796:R176Q	ENSP00000226796:R176Q	R	+	2	0	GAR1	110963049	1.000000	0.71417	0.198000	0.23420	0.971000	0.66376	7.219000	0.78000	1.243000	0.43853	0.650000	0.86243	CGA	-	pfam_H/ACA_rnp_Gar1/Naf1		0.498	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GAR1	protein_coding	OTTHUMT00000363810.2	G		-		110743600	1	no_errors	ENST00000226796	ensembl	human	known	74_37	missense	SNP	0.692	A	A	110743600	G	A	110743600	3	1	231	1	0	0	0	0	1	0	0	0	6242	1058	37	1	541	1	GAR1	4	110743600	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	4269548	110743600	80410676	19	18678											
CDH12	1010	genome.wustl.edu	37	chr5	21975456	21975456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcctgagagggtgtaTttcacagtgccctctccctt	8	14	3	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:21975456T>C	ENST00000382254.1	-	6	1356	c.270A>G	c.(268-270)aaA>aaG	p.K90K	CDH12_ENST00000504376.2_Silent_p.K90K|CDH12_ENST00000522262.1_Silent_p.K90K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	90	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGAGGGTGTATTTCACAGTGC	0.463										HNSCC(59;0.17)																																							0								ENSG00000154162						67	67	67					5																	21975456		2046	3889	5935	CDH12	SO:0001819	synonymous_variant	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.270A>G	5.37:g.21975456T>C		Somatic	0	566	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	94	171	35.47	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K90	ENST00000382254.1	37	c.270	CCDS3890.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	T	NM_004061	-		21975456	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	silent	SNP	1.000	C	C	21975456	T	C	21975456	2	2	231	1	0	0	0	0	0	0	0	1	3100	1490	52	5		5	CDH12	5	21975456	Silent	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09		21975456	158939804	20	18679											
AGXT2	64902	genome.wustl.edu	37	chr5	35033586	35033586	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcaacctgtcccaccAgggagttccatcttgtaggt	12	11	1	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:35033586A>T	ENST00000231420.6	-	6	854	c.654T>A	c.(652-654)ccT>ccA	p.P218P	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	218					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)	CTGTCCCACCAGGGAGTTCCA	0.463																																																	0								ENSG00000113492						99	86	90					5																	35033586		2203	4300	6503	AGXT2	SO:0001819	synonymous_variant	0			-	HGNC	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.654T>A	5.37:g.35033586A>T		Somatic	0	115	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP							pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.P218	ENST00000231420.6	37	c.654	CCDS3908.1	5																																																																																			-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase		0.463	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	protein_coding	OTTHUMT00000207574.2	A	NM_031900	-		35033586	-1	no_errors	ENST00000231420	ensembl	human	known	74_37	silent	SNP	0.300	T	T	35033586	A	T	35033586	2	4	231	1	0	0	0	0	0	0	0	1	405	175	7	5		5	AGXT2	5	35033586	Silent	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09	13058130	35033586	145881674	21	18680											
PRLR	5618	genome.wustl.edu	37	chr5	35068325	35068325	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtacttacctccaacAgatgagcatcaaatcctttt	4	13	1	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:35068325A>T	ENST00000382002.5	-	9	1274	c.848T>A	c.(847-849)cTg>cAg	p.L283Q	PRLR_ENST00000342362.5_Missense_Mutation_p.L182Q|PRLR_ENST00000231423.3_Missense_Mutation_p.L283Q|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.L283Q|PRLR_ENST00000513753.1_Missense_Mutation_p.L283Q|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.L283Q|PRLR_ENST00000511486.1_Missense_Mutation_p.L182Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	283					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TACCTCCAACAGATGAGCATC	0.428																																																	0								ENSG00000113494						173	155	161					5																	35068325		2203	4300	6503	PRLR	SO:0001583	missense	0			-	HGNC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.848T>A	5.37:g.35068325A>T	ENSP00000371432:p.Leu283Gln	Somatic	0	152	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP							pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L283Q	ENST00000382002.5	37	c.848	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451157	0.84209	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	D;D;D;T;T;T;T	0.86769	-1.51;-2.17;-1.89;-0.9;-0.9;-0.9;-1.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.997;0.998	D	0.96338	0.9249	10	0.87932	D	0	-10.4519	15.9649	0.79961	1.0:0.0:0.0:0.0	.	283;182;283;283	P16471;P16471-2;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	Q	283;283;283;182;283;182;283	ENSP00000231423:L283Q;ENSP00000424841:L283Q;ENSP00000441813:L283Q;ENSP00000339213:L182Q;ENSP00000371432:L283Q;ENSP00000422556:L182Q;ENSP00000309008:L283Q	ENSP00000231423:L283Q	L	-	2	0	PRLR	35104082	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.954000	0.87848	2.232000	0.73038	0.533000	0.62120	CTG	-	NULL		0.428	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	protein_coding	OTTHUMT00000207575.2	A		-		35068325	-1	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35068325	A	T	35068325	3	4	231	1	0	0	0	0	1	0	0	0	12536	188	7	5	1028	5	PRLR	5	35068325	Missense_Mutation	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09	34739	35068325	145846935	22	18681											
ACSL6	23305	genome.wustl.edu	37	chr5	131290003	131290003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtctcttagcttttagtGttggtgtcagcaagccattt	10	8	2	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:131290003G>T	ENST00000379240.1	-	21	2171	c.2018C>A	c.(2017-2019)aCa>aAa	p.T673K	ACSL6_ENST00000379272.2_Missense_Mutation_p.T688K|ACSL6_ENST00000379244.1_Missense_Mutation_p.T673K|ACSL6_ENST00000379246.1_Missense_Mutation_p.T684K|ACSL6_ENST00000296869.4_Missense_Mutation_p.T698K|ACSL6_ENST00000379255.1_Missense_Mutation_p.T598K|ACSL6_ENST00000544770.1_Missense_Mutation_p.T582K|ACSL6_ENST00000431707.1_Missense_Mutation_p.T653K|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000543479.1_Missense_Mutation_p.T673K|ACSL6_ENST00000379264.2_Missense_Mutation_p.T698K|ACSL6_ENST00000357096.1_Missense_Mutation_p.T598K|AC034228.4_ENST00000446275.1_RNA			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	673					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTTTTAGTGTTGGTGTCAG	0.373																																																	0								ENSG00000164398						109	96	100					5																	131290003		2203	4300	6503	ACSL6	SO:0001583	missense	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.2018C>A	5.37:g.131290003G>T	ENSP00000368542:p.Thr673Lys	Somatic	0	44	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.T698K	ENST00000379240.1	37	c.2093		5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777471	0.90195	.	.	ENSG00000164398	ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.41	5.41	0.78517	.	0.043544	0.85682	D	0.000000	T	0.72128	0.3422	H	0.97214	3.96	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;0.998;0.991;1.0;0.998;0.998;0.998	T	0.82721	-0.0317	10	0.87932	D	0	.	19.561	0.95373	0.0:0.0:1.0:0.0	.	673;688;663;673;598;698;698	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	K	698;688;598;598;698;684;673;582;673;653;673	ENSP00000368566:T698K;ENSP00000368574:T688K;ENSP00000349608:T598K;ENSP00000368557:T598K;ENSP00000296869:T698K;ENSP00000368548:T684K;ENSP00000368546:T673K;ENSP00000445154:T582K;ENSP00000368542:T673K;ENSP00000413329:T653K;ENSP00000442124:T673K	ENSP00000296869:T698K	T	-	2	0	ACSL6	131317902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.696000	0.92011	0.655000	0.94253	ACA	-	NULL		0.373	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	G	NM_015256	-		131290003	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131290003	G	T	131290003	3	4	231	1	0	0	0	0	1	0	0	0	181	1377	48	3	79	3	ACSL6	5	131290003	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	96221678	131290003	49625257	23	18682											
DDX46	9879	genome.wustl.edu	37	chr5	134106633	134106633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtggggaaagttctAaagagaagaaaaaagacaaa	12	3	1	4			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:134106633A>G	ENST00000354283.4	+	4	526	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E	DDX46_ENST00000452510.2_Missense_Mutation_p.K131E			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	131					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAAAGTTCTAAAGAGAAGAA	0.299																																					Colon(13;391 453 4901 21675 24897)												0								ENSG00000145833						49	57	54					5																	134106633		2203	4299	6502	DDX46	SO:0001583	missense	0			-	HGNC		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.391A>G	5.37:g.134106633A>G	ENSP00000346236:p.Lys131Glu	Somatic	0	158	0		0.630342926830615	13	18.75	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	51	32.89	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K131E	ENST00000354283.4	37	c.391	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	A	7.859	0.725701	0.15439	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.33216	1.42;1.42	4.75	4.75	0.60458	.	0.215295	0.48767	D	0.000177	T	0.15869	0.0382	N	0.14661	0.345	0.34107	D	0.662537	B	0.23854	0.092	B	0.19666	0.026	T	0.12167	-1.0558	10	0.02654	T	1	-25.2715	13.3789	0.60757	1.0:0.0:0.0:0.0	.	131	Q7L014	DDX46_HUMAN	E	131	ENSP00000416534:K131E;ENSP00000346236:K131E	ENSP00000346236:K131E	K	+	1	0	DDX46	134134532	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.153000	0.50685	1.887000	0.54652	0.477000	0.44152	AAA	-	NULL		0.299	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	protein_coding	OTTHUMT00000371584.1	A	NM_014829	-		134106633	1	no_errors	ENST00000452510	ensembl	human	known	74_37	missense	SNP	1.000	G	G	134106633	A	G	134106633	3	3	231	1	0	0	0	0	1	0	0	0	4366	363	13	5	405	5	DDX46	5	134106633	Missense_Mutation	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09	2816630	134106633	46808627	24	18683											
CXCL14	9547	genome.wustl.edu	37	chr5	134907552	134907552	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttcaccctattcttcGtagaccctggggagaaaaaa	9	9	2	2	rs2547	byFrequency	TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:134907552G>C	ENST00000337225.5	-	4	791	c.327C>G	c.(325-327)taC>taG	p.Y109*	CXCL14_ENST00000512158.1_Nonsense_Mutation_p.Y97*|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	109					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTATTCTTCGTAGACCCTGG	0.433																																																	0								ENSG00000145824						62	62	62					5																	134907552		2203	4300	6503	CXCL14	SO:0001587	stop_gained	0			-	HGNC	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"breast and kidney"	604186	"small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.327C>G	5.37:g.134907552G>C	ENSP00000337065:p.Tyr109*	Somatic	0	97	0		0.630342926830615	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Nonsense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	p.Y109*	ENST00000337225.5	37	c.327	CCDS4188.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.778123	0.97833	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	.	.	.	4.64	-0.269	0.12930	.	0.083102	0.50627	D	0.000108	.	.	.	.	.	.	0.37117	P	0.09937300000000004	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0532	7.6316	0.28243	0.5583:0.0:0.4417:0.0	.	.	.	.	X	109;97	.	ENSP00000337065:Y109X	Y	-	3	2	CXCL14	134935451	0.995000	0.38212	0.998000	0.56505	0.986000	0.74619	0.117000	0.15583	0.024000	0.15214	0.655000	0.94253	TAC	-	NULL		0.433	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL14	protein_coding		G	NM_004887	-		134907552	-1	no_errors	ENST00000337225	ensembl	human	known	74_37	nonsense	SNP	0.998	C	C	134907552	G	C	134907552	4	2	231	1	0	0	0	0	0	1	0	0	4084	1140	40	4	12	4	CXCL14	5	134907552	Nonsense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	800919	134907552	46007708	25	18684											
PCDHB2	56133	genome.wustl.edu	37	chr5	140476099	140476099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggctccgcgccctgcacCgagctggtgccccgggcggc	15	18	0	0	rs576325225		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:140476099C>T	ENST00000194155.4	+	1	1873	c.1725C>T	c.(1723-1725)acC>acT	p.T575T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	575	Cadherin 6. {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(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.711																																																	0								ENSG00000112852						7	10	9					5																	140476099		1890	3678	5568	PCDHB2	SO:0001819	synonymous_variant	0			-	HGNC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1725C>T	5.37:g.140476099C>T		Somatic	0	96	0		0.630342926830615	6	25	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	49	20.97	Q4KMU1	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T575	ENST00000194155.4	37	c.1725	CCDS4244.1	5																																																																																			-	superfamily_Cadherin-like		0.711	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	C	NM_018936	-		140476099	1	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	SNP	0.962	T	T	140476099	C	T	140476099	2	4	231	1	0	0	0	0	0	0	0	1	11544	639	23	1		1	PCDHB2	5	140476099	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	5568547	140476099	40439161	26	18685											
DCTN4	51164	genome.wustl.edu	37	chr5	150095215	150095215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaacgagctctttgggagGcaccaccacctggagagcaa	11	11	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:150095215G>T	ENST00000447998.2	-	12	1196	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	DCTN4_ENST00000446090.2_Missense_Mutation_p.P368T|DCTN4_ENST00000424236.1_Missense_Mutation_p.P304T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	361					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTGGGAGGCACCACCACC	0.498																																																	0								ENSG00000132912						117	100	106					5																	150095215		2203	4300	6503	DCTN4	SO:0001583	missense	0			-	HGNC	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1081C>A	5.37:g.150095215G>T	ENSP00000416968:p.Pro361Thr	Somatic	0	104	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP							pfam_Dynactin_p62	p.P368T	ENST00000447998.2	37	c.1102	CCDS4310.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130469	0.77549	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.57907	0.37;0.37;0.37	5.86	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66327	0.2778	M	0.84773	2.715	0.80722	D	1	P;P	0.38048	0.562;0.616	B;P	0.45377	0.346;0.478	T	0.72437	-0.4294	10	0.72032	D	0.01	0.2657	15.2825	0.73797	0.067:0.0:0.933:0.0	.	368;361	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	T	361;304;368	ENSP00000416968:P361T;ENSP00000411251:P304T;ENSP00000414906:P368T	ENSP00000411251:P304T	P	-	1	0	DCTN4	150075408	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.241000	0.95402	1.631000	0.50456	0.650000	0.86243	CCT	-	pfam_Dynactin_p62		0.498	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	protein_coding	OTTHUMT00000252372.1	G		-		150095215	-1	no_errors	ENST00000446090	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150095215	G	T	150095215	3	4	231	1	0	0	0	0	1	0	0	0	4311	1203	42	3	309	3	DCTN4	5	150095215	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	9619116	150095215	30820045	27	18686											
FAT2	2196	genome.wustl.edu	37	chr5	150908764	150908764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacgtcacccacaaggGcattctctaagacccttgtg	10	12	2	2	rs561258669	byFrequency	TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:150908764G>A	ENST00000261800.5	-	14	10013	c.10001C>T	c.(10000-10002)gCc>gTc	p.A3334V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3334	Cadherin 30. {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)			ACCCACAAGGGCATTCTCTAA	0.527																																																	0								ENSG00000086570						113	107	109					5																	150908764		2203	4300	6503	FAT2	SO:0001583	missense	0			-	HGNC	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.10001C>T	5.37:g.150908764G>A	ENSP00000261800:p.Ala3334Val	Somatic	0	85	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O75091|Q9NSR7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3334V	ENST00000261800.5	37	c.10001	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472966	0.26423	.	.	ENSG00000086570	ENST00000261800	T	0.55588	0.51	5.78	3.7	0.42460	Cadherin (3);Cadherin-like (1);	0.273464	0.31472	N	0.007586	T	0.44498	0.1296	L	0.41236	1.265	0.29614	N	0.84672	B;B	0.26577	0.153;0.0	B;B	0.27262	0.078;0.004	T	0.47032	-0.9148	10	0.40728	T	0.16	.	13.8571	0.63534	0.1441:0.0:0.8559:0.0	.	3334;525	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3334	ENSP00000261800:A3334V	ENSP00000261800:A3334V	A	-	2	0	FAT2	150888957	0.077000	0.21312	0.718000	0.30602	0.033000	0.12548	0.547000	0.23299	1.457000	0.47850	-0.150000	0.13652	GCC	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	G	NM_001447	-		150908764	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	SNP	0.922	A	A	150908764	G	A	150908764	3	1	231	1	0	0	0	0	1	0	0	0	5692	1203	42	2	3088	2	FAT2	5	150908764	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	813549	150908764	30006496	28	18687											
FAT2	2196	genome.wustl.edu	37	chr5	150930375	150930375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaactctgacttcataacGagtttccagaaactggggcc	11	10	2	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:150930375G>A	ENST00000261800.5	-	7	4366	c.4354C>T	c.(4354-4356)Cgt>Tgt	p.R1452C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1452	Cadherin 13. {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)			ACTTCATAACGAGTTTCCAGA	0.537																																																	0								ENSG00000086570						88	85	86					5																	150930375		2203	4300	6503	FAT2	SO:0001583	missense	0			-	HGNC	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.4354C>T	5.37:g.150930375G>A	ENSP00000261800:p.Arg1452Cys	Somatic	0	76	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	27	40.43	O75091|Q9NSR7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R1452C	ENST00000261800.5	37	c.4354	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580863	0.28180	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	5.0	4.1	0.47936	Cadherin (2);Cadherin-like (1);	0.822775	0.10897	N	0.622075	T	0.49338	0.1551	L	0.56280	1.765	0.09310	N	1	P	0.47762	0.9	B	0.34038	0.174	T	0.38520	-0.9657	10	0.52906	T	0.07	.	12.3038	0.54889	0.0:0.0:0.6918:0.3082	.	1452	Q9NYQ8	FAT2_HUMAN	C	1452	ENSP00000261800:R1452C	ENSP00000261800:R1452C	R	-	1	0	FAT2	150910568	1.000000	0.71417	0.103000	0.21229	0.494000	0.33585	4.293000	0.59037	1.040000	0.40099	0.655000	0.94253	CGT	-	superfamily_Cadherin-like,pfscan_Cadherin		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	G	NM_001447	-		150930375	-1	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	SNP	0.053	A	A	150930375	G	A	150930375	3	1	231	1	0	0	0	0	1	0	0	0	5692	1058	37	1	8763	1	FAT2	5	150930375	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	21611	150930375	29984885	29	18688											
HAVCR2	84868	genome.wustl.edu	37	chr5	156533780	156533780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcggaaatccccattTagccagtatctggatgtcca	8	12	1	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:156533780T>C	ENST00000307851.4	-	2	982	c.252A>G	c.(250-252)ctA>ctG	p.L84L	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L84L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	84	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCCCCATTTAGCCAGTATC	0.498																																																	0								ENSG00000135077						155	143	147					5																	156533780		2203	4300	6503	HAVCR2	SO:0001819	synonymous_variant	0			-	HGNC	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.252A>G	5.37:g.156533780T>C		Somatic	0	107	0		0.630342926830615	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	B2RAY2|Q8WW60|Q96K94	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L84	ENST00000307851.4	37	c.252	CCDS4333.1	5																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.498	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	protein_coding	OTTHUMT00000252574.2	T		-		156533780	-1	no_errors	ENST00000307851	ensembl	human	known	74_37	silent	SNP	0.671	C	C	156533780	T	C	156533780	2	2	231	1	0	0	0	0	0	0	0	1	6976	1741	61	5		5	HAVCR2	5	156533780	Silent	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09	5603405	156533780	24381480	30	18689											
SFXN1	94081	genome.wustl.edu	37	chr5	174936049	174936049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaggcaaggaattgttcCtcctggtcttacagaaaatg	9	8	2	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr5:174936049C>T	ENST00000321442.5	+	3	433	c.179C>T	c.(178-180)cCt>cTt	p.P60L	SFXN1_ENST00000502393.1_Missense_Mutation_p.P60L	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	60					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGAATTGTTCCTCCTGGTCTT	0.373																																																	0								ENSG00000164466						132	131	131					5																	174936049		2203	4300	6503	SFXN1	SO:0001583	missense	0			-	HGNC	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.179C>T	5.37:g.174936049C>T	ENSP00000316905:p.Pro60Leu	Somatic	0	95	0		0.630342926830615	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	50	16.67	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP							pfam_Mtc,tigrfam_Mtc	p.P60L	ENST00000321442.5	37	c.179	CCDS4394.1	5	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988769	0.35131	.	.	ENSG00000164466	ENST00000507017;ENST00000321442;ENST00000506963	T;T;T	0.28454	1.61;1.61;1.61	5.23	4.36	0.52297	.	0.244211	0.40554	N	0.001067	T	0.26666	0.0652	L	0.49699	1.58	0.25657	N	0.98604	B	0.02656	0.0	B	0.15052	0.012	T	0.19484	-1.0304	10	0.49607	T	0.09	-16.2702	7.8299	0.29336	0.1603:0.7585:0.0:0.0812	.	60	Q9H9B4	SFXN1_HUMAN	L	60	ENSP00000420961:P60L;ENSP00000316905:P60L;ENSP00000421467:P60L	ENSP00000316905:P60L	P	+	2	0	SFXN1	174868655	0.365000	0.25006	0.193000	0.23327	0.884000	0.51177	4.609000	0.61148	1.206000	0.43276	0.555000	0.69702	CCT	-	pfam_Mtc,tigrfam_Mtc		0.373	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN1	protein_coding	OTTHUMT00000252980.2	C	NM_022754	-		174936049	1	no_errors	ENST00000321442	ensembl	human	known	74_37	missense	SNP	0.203	T	T	174936049	C	T	174936049	3	4	231	1	0	0	0	0	1	0	0	0	14202	681	24	2	185	2	SFXN1	5	174936049	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	18402269	174936049	5979211	31	18690											
BAT2	7916	genome.wustl.edu	37	chr6	31602284	31602284	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttaccggcccagctccatgGagccttggatggagcccctg	13	14	0	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr6:31602284G>T	ENST00000376033.2	+	20	5119	c.4885G>T	c.(4885-4887)Gag>Tag	p.E1629*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E1629*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1629	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTCCATGGAGCCTTGGAT	0.557																																																	0								ENSG00000204469						40	37	38					6																	31602284		1510	2708	4218	PRRC2A	SO:0001587	stop_gained	0			-	HGNC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4885G>T	6.37:g.31602284G>T	ENSP00000365201:p.Glu1629*	Somatic	0	66	0		0.630342926830615	60	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP							pfam_BAT2_N	p.E1629*	ENST00000376033.2	37	c.4885	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	47	13.660199	0.99755	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.7058	16.2348	0.82365	0.0:0.0:1.0:0.0	.	.	.	.	X	1623;1612;1629;1629;854	.	ENSP00000365175:E1629X	E	+	1	0	PRRC2A	31710263	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.880000	0.63107	2.826000	0.97356	0.561000	0.74099	GAG	-	NULL		0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	protein_coding	OTTHUMT00000259319.1	G	NM_080686	-		31602284	1	no_errors	ENST00000376007	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	31602284	G	T	31602284	4	4	231	1	0	0	0	0	0	1	0	0	1319	1175	41	3	4959	3	BAT2	6	31602284	Nonsense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		31602284	139512783	32	18691											
USP49	25862	genome.wustl.edu	37	chr6	41774551	41774551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtcccgtctcctcaaaGtgtttcagggcgtggtcctc	13	12	3	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr6:41774551G>T	ENST00000394253.3	-	3	500	c.171C>A	c.(169-171)caC>caA	p.H57Q	USP49_ENST00000373006.1_Missense_Mutation_p.H57Q|USP49_ENST00000297229.2_Missense_Mutation_p.H57Q|USP49_ENST00000373010.1_Missense_Mutation_p.H57Q|USP49_ENST00000373009.3_Missense_Mutation_p.H57Q			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	57					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCTCAAAGTGTTTCAGGG	0.592																																																	0								ENSG00000164663						111	114	113					6																	41774551		2203	4300	6503	USP49	SO:0001583	missense	0			-	HGNC	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.171C>A	6.37:g.41774551G>T	ENSP00000377797:p.His57Gln	Somatic	0	98	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.H57Q	ENST00000394253.3	37	c.171		6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078062	0.76528	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	H	0.99156	4.45	0.58432	D	0.999995	D	0.76494	0.999	D	0.97110	1.0	D	0.99250	1.0887	10	0.87932	D	0	-20.3579	18.203	0.89844	0.0:0.0:1.0:0.0	.	57	Q70CQ1-2	.	Q	57	ENSP00000377797:H57Q;ENSP00000362101:H57Q;ENSP00000362100:H57Q;ENSP00000362097:H57Q;ENSP00000297229:H57Q	ENSP00000297229:H57Q	H	-	3	2	USP49	41882529	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.212000	0.65225	2.624000	0.88883	0.655000	0.94253	CAC	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP		0.592	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	USP49	protein_coding	OTTHUMT00000316513.3	G	NM_018561	-		41774551	-1	no_errors	ENST00000373009	ensembl	human	known	74_37	missense	SNP	1.000	T	T	41774551	G	T	41774551	3	4	231	1	0	0	0	0	1	0	0	0	17087	1020	36	3	1767	3	USP49	6	41774551	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	10172267	41774551	129340516	33	18692											
ZNF292	23036	genome.wustl.edu	37	chr6	87966771	87966771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtaaaaaaggtcagaaaGctaacaacttaaatacacca	5	7	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr6:87966771G>T	ENST00000369577.3	+	8	3467	c.3424G>T	c.(3424-3426)Gct>Tct	p.A1142S	ZNF292_ENST00000339907.4_Missense_Mutation_p.A1137S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1142						nucleus (GO:0005634)	DNA binding (GO:0003677)|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)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGTCAGAAAGCTAACAACTT	0.363																																																	0								ENSG00000188994						53	48	50					6																	87966771		1869	4096	5965	ZNF292	SO:0001583	missense	0			-	HGNC	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3424G>T	6.37:g.87966771G>T	ENSP00000358590:p.Ala1142Ser	Somatic	0	84	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1142S	ENST00000369577.3	37	c.3424	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161067	0.01673	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.05786	3.39;3.4	5.41	1.7	0.24286	.	0.488567	0.23159	N	0.051273	T	0.00356	0.0011	N	0.00621	-1.32	0.21290	N	0.999737	B	0.02656	0.0	B	0.01281	0.0	T	0.39187	-0.9626	10	0.02654	T	1	.	3.7858	0.08700	0.1159:0.0694:0.2806:0.5341	.	1142	O60281	ZN292_HUMAN	S	1142;1137	ENSP00000358590:A1142S;ENSP00000342847:A1137S	ENSP00000342847:A1137S	A	+	1	0	ZNF292	88023490	0.929000	0.31497	0.968000	0.41197	0.769000	0.43574	0.660000	0.25009	0.045000	0.15804	-0.467000	0.05162	GCT	-	NULL		0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	protein_coding	OTTHUMT00000376192.2	G	NM_015021	-		87966771	1	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	SNP	0.893	T	T	87966771	G	T	87966771	3	4	231	1	0	0	0	0	1	0	0	0	17833	971	34	3	3454	3	ZNF292	6	87966771	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	46192220	87966771	83148296	34	18693											
RARS2	57038	genome.wustl.edu	37	chr6	88228563	88228563	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaataatgagtgctgcgagCccgaccctctctgcagtctc	10	13	2	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr6:88228563C>A	ENST00000369536.5	-	15	1329	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	RARS2_ENST00000497828.1_5'UTR	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	428					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTGCTGCGAGCCCGACCCTCT	0.468																																																	0								ENSG00000146282						85	83	84					6																	88228563		2203	4300	6503	RARS2	SO:0001819	synonymous_variant	0			-	HGNC	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1284G>T	6.37:g.88228563C>A		Somatic	0	86	0		0.630342926830615	13	80.6	54	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	14	73.08	B2RDT7|Q96FU5|Q9H8K8	Silent	SNP							pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.G428	ENST00000369536.5	37	c.1284	CCDS5011.1	6																																																																																			-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia		0.468	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	protein_coding	OTTHUMT00000041448.1	C	NM_020320	-		88228563	-1	no_errors	ENST00000369536	ensembl	human	known	74_37	silent	SNP	0.651	A	A	88228563	C	A	88228563	2	1	231	1	0	0	0	0	0	0	0	1	13067	726	26	3		3	RARS2	6	88228563	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	261792	88228563	82886504	35	18694											
EPHA7	2045	genome.wustl.edu	37	chr6	94066667	94066667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttacacaatattctgtaGgtcacatcgtttcttccccc	5	14	3	0	rs200560907		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr6:94066667G>A	ENST00000369303.4	-	5	1276	c.1092C>T	c.(1090-1092)acC>acT	p.T364T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ATATTCTGTAGGTCACATCGT	0.483																																																	0								ENSG00000135333						156	135	142					6																	94066667		2203	4300	6503	EPHA7	SO:0001819	synonymous_variant	0			-	HGNC	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.1092C>T	6.37:g.94066667G>A		Somatic	0	152	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	46	16.36	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T364	ENST00000369303.4	37	c.1092	CCDS5031.1	6																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	G		rs200560907		94066667	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	silent	SNP	1.000	A	A	94066667	G	A	94066667	2	1	231	1	0	0	0	0	0	0	0	1	5174	987	35	2		2	EPHA7	6	94066667	Silent	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	5838104	94066667	77048400	36	18695											
SLC22A2	6582	genome.wustl.edu	37	chr6	160679438	160679438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccggcaggggcccagtgGcaggcggctcctgttggtgt	18	12	0	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr6:160679438G>A	ENST00000366953.3	-	1	610	c.352C>T	c.(352-354)Cca>Tca	p.P118S	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.P97S	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	118					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GGGCCCAGTGGCAGGCGGCTC	0.642																																																	0								ENSG00000112499						47	56	53					6																	160679438		2202	4298	6500	SLC22A2	SO:0001583	missense	0			-	HGNC	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.352C>T	6.37:g.160679438G>A	ENSP00000355920:p.Pro118Ser	Somatic	0	130	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	92	20.00	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.P118S	ENST00000366953.3	37	c.352	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668096	0.88348	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73047	-0.71;-0.65	5.36	5.36	0.76844	Major facilitator superfamily domain (1);	0.117923	0.64402	D	0.000015	T	0.73418	0.3584	M	0.64080	1.96	0.48135	D	0.999593	P;P;P	0.44195	0.673;0.828;0.794	P;P;P	0.51999	0.523;0.687;0.652	T	0.71234	-0.4653	10	0.39692	T	0.17	.	19.2789	0.94044	0.0:0.0:1.0:0.0	.	118;118;118	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	S	118;97	ENSP00000355920:P118S;ENSP00000355919:P97S	ENSP00000355919:P97S	P	-	1	0	SLC22A2	160599428	1.000000	0.71417	0.990000	0.47175	0.843000	0.47879	4.813000	0.62620	2.774000	0.95407	0.655000	0.94253	CCA	-	pfscan_MFS_dom,tigrfam_Orgcat_transp		0.642	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	protein_coding	OTTHUMT00000042943.1	G	NM_003058	-		160679438	-1	no_errors	ENST00000366953	ensembl	human	known	74_37	missense	SNP	0.933	A	A	160679438	G	A	160679438	3	1	231	1	0	0	0	0	1	0	0	0	14458	1203	42	2	1359	2	SLC22A2	6	160679438	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	66612771	160679438	10435629	37	18696											
AGR2	10551	genome.wustl.edu	37	chr7	16834610	16834610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agagacgatttgaatatcttCcagtgatatcggctctaact	8	8	2	3			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr7:16834610C>A	ENST00000419304.2	-	7	580	c.428G>T	c.(427-429)gGa>gTa	p.G143V	AGR2_ENST00000401412.1_Missense_Mutation_p.G143V|AGR2_ENST00000419572.2_Missense_Mutation_p.G163V	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	143					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGAATATCTTCCAGTGATATC	0.413																																																	0								ENSG00000106541						140	114	123					7																	16834610		2203	4300	6503	AGR2	SO:0001583	missense	0			-	HGNC	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.428G>T	7.37:g.16834610C>A	ENSP00000391490:p.Gly143Val	Somatic	0	99	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05		Missense_Mutation	SNP							superfamily_Thioredoxin-like_fold	p.G163V	ENST00000419304.2	37	c.488	CCDS5364.1	7	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931096	0.92389	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412	T;T;T	0.59502	0.26;0.26;0.26	5.78	5.78	0.91487	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.77993	-0.2378	10	0.87932	D	0	-15.329	19.6222	0.95663	0.0:1.0:0.0:0.0	.	143	O95994	AGR2_HUMAN	V	143;73;163;143	ENSP00000391490:G143V;ENSP00000388342:G163V;ENSP00000386025:G143V	ENSP00000386025:G143V	G	-	2	0	AGR2	16801135	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.191000	0.77763	2.744000	0.94065	0.563000	0.77884	GGA	-	superfamily_Thioredoxin-like_fold		0.413	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGR2	protein_coding	OTTHUMT00000207594.2	C	NM_006408	-		16834610	-1	no_errors	ENST00000419572	ensembl	human	known	74_37	missense	SNP	1.000	A	A	16834610	C	A	16834610	3	1	231	1	0	0	0	0	1	0	0	0	395	855	30	3	107	3	AGR2	7	16834610	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09		16834610	142304053	38	18697											
SEMA3C	10512	genome.wustl.edu	37	chr7	80374308	80374308	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctcattttctgtgattcatCtccctgctgatgttgctgcc	7	12	4	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr7:80374308C>G	ENST00000265361.3	-	18	2719	c.2158G>C	c.(2158-2160)Gat>Cat	p.D720H	SEMA3C_ENST00000544525.1_Missense_Mutation_p.D738H|SEMA3C_ENST00000419255.2_Missense_Mutation_p.D720H	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	720					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGTGATTCATCTCCCTGCTGA	0.458																																																	0								ENSG00000075223						154	140	145					7																	80374308		2203	4300	6503	SEMA3C	SO:0001583	missense	0			-	HGNC	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2158G>C	7.37:g.80374308C>G	ENSP00000265361:p.Asp720His	Somatic	0	71	0		0.630342926830615	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	B4DRL8	Missense_Mutation	SNP							pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D738H	ENST00000265361.3	37	c.2212	CCDS5596.1	7	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335856	0.11013	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26373	1.75;1.75;1.74	5.43	5.43	0.79202	.	0.540246	0.20281	N	0.095453	T	0.17831	0.0428	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.07158	-1.0787	10	0.51188	T	0.08	.	19.2296	0.93833	0.0:1.0:0.0:0.0	.	738;720	F5H1Z7;Q99985	.;SEM3C_HUMAN	H	720;720;738	ENSP00000265361:D720H;ENSP00000411193:D720H;ENSP00000445649:D738H	ENSP00000265361:D720H	D	-	1	0	SEMA3C	80212244	0.989000	0.36119	0.246000	0.24233	0.024000	0.10985	3.736000	0.55052	2.560000	0.86352	0.557000	0.71058	GAT	-	NULL		0.458	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	protein_coding	OTTHUMT00000253279.1	C	NM_006379	-		80374308	-1	no_errors	ENST00000544525	ensembl	human	known	74_37	missense	SNP	0.521	G	G	80374308	C	G	80374308	3	3	231	1	0	0	0	0	1	0	0	0	14034	913	32	4	101	4	SEMA3C	7	80374308	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	63539698	80374308	78764355	39	18698											
CFTR	1080	genome.wustl.edu	37	chr7	117199633	117199633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattatgcctggcaccattaAagaaaatatcatctttggtg	8	7	2	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr7:117199633A>G	ENST00000003084.6	+	11	1640	c.1508A>G	c.(1507-1509)aAa>aGa	p.K503R	AC000111.3_ENST00000441019.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.K442R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	503	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GGCACCATTAAAGAAAATATC	0.373									Cystic Fibrosis																																								0								ENSG00000001626						91	92	92					7																	117199633		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1508A>G	7.37:g.117199633A>G	ENSP00000003084:p.Lys503Arg	Somatic	0	96	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.K503R	ENST00000003084.6	37	c.1508	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	A	6.890	0.533613	0.13188	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.93189	-3.18;-3.18;-3.18	5.48	5.48	0.80851	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.047201	0.85682	D	0.000000	D	0.83709	0.5313	N	0.03324	-0.35	0.50632	D	0.99988	B	0.18013	0.025	B	0.29716	0.106	T	0.79037	-0.1967	10	0.02654	T	1	-28.9055	15.8605	0.79017	1.0:0.0:0.0:0.0	.	503	P13569	CFTR_HUMAN	R	503;442;473	ENSP00000003084:K503R;ENSP00000403677:K442R;ENSP00000389119:K473R	ENSP00000003084:K503R	K	+	2	0	CFTR	116986869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.197000	0.70478	0.533000	0.62120	AAA	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.373	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	A	NM_000492	-		117199633	1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	G	G	117199633	A	G	117199633	3	3	231	1	0	0	0	0	1	0	0	0	3296	14	1	5	1550	5	CFTR	7	117199633	Missense_Mutation	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09	36825325	117199633	41939030	40	18699											
SPAM1	6677	genome.wustl.edu	37	chr7	123594537	123594537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggtttttgcatataccCgcatagtttttactgatcaa	6	9	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr7:123594537C>T	ENST00000439500.1	+	4	1526	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	SPAM1_ENST00000460182.1_Missense_Mutation_p.R305C|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305C|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305C|SPAM1_ENST00000340011.5_Missense_Mutation_p.R305C	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)	305					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)	p.R305S(2)		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						TGCATATACCCGCATAGTTTT	0.388																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000106304						36	36	36					7																	123594537		2203	4299	6502	SPAM1	SO:0001583	missense	0			-	HGNC	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.913C>T	7.37:g.123594537C>T	ENSP00000402123:p.Arg305Cys	Somatic	0	125	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	27	48.08	Q8TC30	Missense_Mutation	SNP							pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.R305C	ENST00000439500.1	37	c.913	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379524	0.61845	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.105283	0.64402	D	0.000004	T	0.66655	0.2811	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75283	-0.3372	9	.	.	.	-25.9732	19.8676	0.96824	0.0:1.0:0.0:0.0	.	305;305	Q8TC30;P38567	.;HYALP_HUMAN	C	305	ENSP00000386028:R305C;ENSP00000417934:R305C;ENSP00000345849:R305C;ENSP00000402123:R305C;ENSP00000223028:R305C	.	R	+	1	0	SPAM1	123381773	0.993000	0.37304	0.524000	0.27887	0.057000	0.15508	3.101000	0.50283	2.941000	0.99782	0.655000	0.94253	CGC	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase		0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	protein_coding	OTTHUMT00000348309.1	C		-		123594537	1	no_errors	ENST00000340011	ensembl	human	known	74_37	missense	SNP	0.999	T	T	123594537	C	T	123594537	3	4	231	1	0	0	0	0	1	0	0	0	14994	652	23	1	915	1	SPAM1	7	123594537	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	6394904	123594537	35544126	41	18700											
ESYT2	57488	genome.wustl.edu	37	chr7	158534291	158534291	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgaggcgatgctgggggtCggctccttgactgagatgtg	17	9	0	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr7:158534291C>T	ENST00000251527.5	-	17	2237	c.2172G>A	c.(2170-2172)ccG>ccA	p.P724P	ESYT2_ENST00000435514.2_Silent_p.P159P	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	752					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGCTGGGGGTCGGCTCCTTGA	0.657																																																	0								ENSG00000117868						45	44	44					7																	158534291		2203	4300	6503	ESYT2	SO:0001819	synonymous_variant	0			-	HGNC	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2172G>A	7.37:g.158534291C>T		Somatic	0	149	0		0.630342926830615	0	100	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	14	53.33	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P724	ENST00000251527.5	37	c.2172	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	c	11.33	1.606112	0.28623	.	.	ENSG00000117868	ENST00000429474	.	.	.	5.11	2.14	0.27477	.	.	.	.	.	T	0.37679	0.1012	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05517	-1.0880	5	0.13470	T	0.59	-18.4531	5.6085	0.17392	0.0727:0.1188:0.5829:0.2257	.	.	.	.	Q	507	.	ENSP00000395865:R507Q	R	-	2	0	ESYT2	158227052	0.988000	0.35896	1.000000	0.80357	0.122000	0.20287	0.136000	0.15974	0.679000	0.31345	-0.743000	0.03520	CGA	-	NULL		0.657	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	protein_coding	OTTHUMT00000322647.1	C	NM_020728	-		158534291	-1	no_errors	ENST00000251527	ensembl	human	known	74_37	silent	SNP	0.999	T	T	158534291	C	T	158534291	2	4	231	1	0	0	0	0	0	0	0	1	5267	871	31	1		1	ESYT2	7	158534291	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	34939754	158534291	604372	42	18701											
TMEM67	91147	genome.wustl.edu	37	chr8	94827670	94827670	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttccttacatatctacaaCaagaggtaaacttttaaaat	3	9	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr8:94827670C>G	ENST00000453321.3	+	27	2960	c.2902C>G	c.(2902-2904)Caa>Gaa	p.Q968E	TMEM67_ENST00000409623.3_Missense_Mutation_p.Q887E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	968					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATATCTACAACAAGAGGTAAA	0.303																																																	0								ENSG00000164953						100	93	95					8																	94827670		2202	4297	6499	TMEM67	SO:0001583	missense	0			-	HGNC	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2902C>G	8.37:g.94827670C>G	ENSP00000389998:p.Gln968Glu	Somatic	0	86	0		0.630342926830615	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	48	30.43	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP							pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.Q968E	ENST00000453321.3	37	c.2902	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335086	0.60853	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.96459	-4.02;-4.02	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96722	0.8930	M	0.72118	2.19	0.80722	D	1	D;P	0.54601	0.967;0.905	P;P	0.50860	0.604;0.652	D	0.95260	0.8368	10	0.24483	T	0.36	-10.3669	19.9658	0.97266	0.0:1.0:0.0:0.0	.	968;887	Q5HYA8;G5E9H2	MKS3_HUMAN;.	E	968;887	ENSP00000389998:Q968E;ENSP00000386966:Q887E	ENSP00000314488:Q958E	Q	+	1	0	TMEM67	94896846	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.426000	0.80270	2.721000	0.93114	0.591000	0.81541	CAA	-	pfam_Meckelin		0.303	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	protein_coding	OTTHUMT00000329641.2	C	NM_153704	-		94827670	1	no_errors	ENST00000453321	ensembl	human	known	74_37	missense	SNP	1.000	G	G	94827670	C	G	94827670	3	3	231	1	0	0	0	0	1	0	0	0	16203	479	17	4	3146	4	TMEM67	8	94827670	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09		94827670	51536352	43	18702											
TNFRSF11B	4982	genome.wustl.edu	37	chr8	119945327	119945327	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacacggggctgcagtaTagacactcgtcactggtgtg	13	10	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr8:119945327T>C	ENST00000297350.4	-	2	621	c.243A>G	c.(241-243)ctA>ctG	p.L81L		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	81					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGCTGCAGTATAGACACTCGT	0.562																																																	0								ENSG00000164761						160	143	148					8																	119945327		2203	4300	6503	TNFRSF11B	SO:0001819	synonymous_variant	0			-	HGNC	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.243A>G	8.37:g.119945327T>C		Somatic	0	51	0		0.630342926830615	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP							pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.L81	ENST00000297350.4	37	c.243	CCDS6326.1	8																																																																																			-	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg		0.562	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	protein_coding	OTTHUMT00000381220.1	T		-		119945327	-1	no_errors	ENST00000297350	ensembl	human	known	74_37	silent	SNP	0.845	C	C	119945327	T	C	119945327	2	2	231	1	0	0	0	0	0	0	0	1	16292	1393	49	5		5	TNFRSF11B	8	119945327	Silent	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09	25117657	119945327	26418695	44	18703											
DAPK1	1612	genome.wustl.edu	37	chr9	90264842	90264842	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctccttggccaggaagaaGaaacccccctgcactgtgct	10	14	1	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr9:90264842G>T	ENST00000408954.3	+	16	1770	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.E479*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.E479*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.E479*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.E479*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	479					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGGAAGAAGAAACCCCCCT	0.488									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								ENSG00000196730						61	65	64					9																	90264842		1947	4136	6083	DAPK1	SO:0001587	stop_gained	0	Familial Cancer Database	Familial CLL	-	HGNC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1435G>T	9.37:g.90264842G>T	ENSP00000386135:p.Glu479*	Somatic	0	101	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.E479*	ENST00000408954.3	37	c.1435	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.554511	0.99204	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.4321	0.94775	0.0:0.0:1.0:0.0	.	.	.	.	X	479	.	ENSP00000350785:E479X	E	+	1	0	DAPK1	89454662	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.336000	0.96533	2.769000	0.95229	0.655000	0.94253	GAA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.488	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	G	NM_004938	-		90264842	1	no_errors	ENST00000469640	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	90264842	G	T	90264842	4	4	231	1	0	0	0	0	0	1	0	0	4237	943	33	3	1493	3	DAPK1	9	90264842	Nonsense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		90264842	50948589	45	18704											
GRIN3A	116443	genome.wustl.edu	37	chr9	104449456	104449456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacttaatgaattttcTaaactcagttgtaggtgaag	8	5	3	3			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr9:104449456T>C	ENST00000361820.3	-	2	1326	c.726A>G	c.(724-726)ttA>ttG	p.L242L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	242					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATGAATTTTCTAAACTCAGTT	0.368																																																	0								ENSG00000198785						73	74	73					9																	104449456		2203	4300	6503	GRIN3A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.726A>G	9.37:g.104449456T>C		Somatic	0	76	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.L242	ENST00000361820.3	37	c.726	CCDS6758.1	9																																																																																			-	superfamily_Peripla_BP_I		0.368	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	T		-		104449456	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	silent	SNP	1.000	C	C	104449456	T	C	104449456	2	2	231	1	0	0	0	0	0	0	0	1	6785	1519	53	5		5	GRIN3A	9	104449456	Silent	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09	14184614	104449456	36763975	46	18705											
GOLGA2	2801	genome.wustl.edu	37	chr9	131028291	131028291	+	Frame_Shift_Del	DEL	T	T	-													ccctgcttttggtggcattcTttcttttcctataggaagag							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr9:131028291delT	ENST00000421699.2	-	9	621	c.609delA	c.(607-609)aaafs	p.K203fs	GOLGA2_ENST00000609374.1_Frame_Shift_Del_p.K191fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	203					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GGTGGCATTCTTTCTTTTCCT	0.527																																																	0								ENSG00000167110						191	171	178					9																	131028291		2203	4300	6503	GOLGA2	SO:0001589	frameshift_variant	0				HGNC	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.609delA	9.37:g.131028291delT	ENSP00000416097:p.Lys203fs	Somatic	0	215	0		0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	68	39.82	Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Del	DEL							superfamily_CofA_tubulin-bd	p.E204fs	ENST00000421699.2	37	c.609	CCDS6896.2	9																																																																																			-	NULL		0.527	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	protein_coding	OTTHUMT00000054358.2	T	NM_004486			131028291	-1	no_errors	ENST00000421699	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	131028291	T	-	131028291	7	5	231	1	0	1	0	1	0	0	0	0	6554	1606	56	0	2471	0	GOLGA2	9	131028291	Frame_Shift_Del	DEL	T	TCGA-X6-A7W8-01A-21D-A351-09	26578835	131028291	10185140	47	18706											
EXD3	54932	genome.wustl.edu	37	chr9	140267432	140267432	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtctgcatcctgcagctgGaagatgctggccagtggtgc	14	11	1	1	rs534339635	byFrequency	TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr9:140267432G>A	ENST00000340951.4	-	5	582	c.387C>T	c.(385-387)ttC>ttT	p.F129F	EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Silent_p.F129F|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCTGCAGCTGGAAGATGCTGG	0.657																																																	0								ENSG00000187609						38	47	44					9																	140267432		2096	4218	6314	EXD3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.387C>T	9.37:g.140267432G>A		Somatic	0	144	0		0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	62	26.74	Q6P1M1|Q8IXT8	Silent	SNP							pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.F129	ENST00000340951.4	37	c.387	CCDS48066.1	9																																																																																			-	NULL		0.657	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	protein_coding	OTTHUMT00000343182.1	G	NM_017820	-		140267432	-1	no_errors	ENST00000340951	ensembl	human	known	74_37	silent	SNP	1.000	A	A	140267432	G	A	140267432	2	1	231	1	0	0	0	0	0	0	0	1	5301	1165	41	2		2	EXD3	9	140267432	Silent	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	9239141	140267432	945999	48	18707											
GAD2	2572	genome.wustl.edu	37	chr10	26518625	26518625	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatgtatgccatgatgatCgcacgctttaagatgttccc	8	10	0	3	rs145045666		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr10:26518625C>T	ENST00000376261.3	+	7	1262	c.759C>T	c.(757-759)atC>atT	p.I253I	GAD2_ENST00000259271.3_Silent_p.I253I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	253					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.I253I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCATGATGATCGCACGCTTTA	0.428																																																	2	Substitution - coding silent(2)	lung(1)|skin(1)						ENSG00000136750	C	,	0,4406		0,0,2203	222	179	193		759,759	-10.7	0.1	10	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GAD2	NM_000818.2,NM_001134366.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	253/586,253/586	26518625	1,13005	2203	4300	6503	GAD2	SO:0001819	synonymous_variant	0			-	HGNC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.759C>T	10.37:g.26518625C>T		Somatic	0	71	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	17	67.92	Q9UD87	Silent	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.I253	ENST00000376261.3	37	c.759	CCDS7149.1	10																																																																																			-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.428	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	C	NM_000818	rs145045666		26518625	1	no_errors	ENST00000259271	ensembl	human	known	74_37	silent	SNP	0.538	T	T	26518625	C	T	26518625	2	4	231	1	0	0	0	0	0	0	0	1	6182	874	31	1		1	GAD2	10	26518625	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09		26518625	109016122	49	18708											
ZNF488	118738	genome.wustl.edu	37	chr10	48371038	48371038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttagcaaaccaaccaagcGaccagcagagaggcctgagc	10	13	0	2	rs150285927		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr10:48371038G>T	ENST00000395702.2	+	2	733	c.506G>T	c.(505-507)cGa>cTa	p.R169L	ZNF488_ENST00000586537.1_Missense_Mutation_p.R62L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	169					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCAACCAAGCGACCAGCAGAG	0.582																																																	0								ENSG00000165388						72	71	71					10																	48371038		2203	4300	6503	ZNF488	SO:0001583	missense	0			-	HGNC	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.506G>T	10.37:g.48371038G>T	ENSP00000379054:p.Arg169Leu	Somatic	0	78	0		0.630342926830615	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	Q05CE0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R169L	ENST00000395702.2	37	c.506	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596223	0.46318	.	.	ENSG00000165388	ENST00000395702	T	0.23754	1.89	5.55	2.67	0.31697	.	1.052760	0.07456	N	0.899755	T	0.15912	0.0383	N	0.19112	0.55	0.21220	N	0.99976	B	0.31026	0.304	B	0.26416	0.069	T	0.28396	-1.0045	10	0.40728	T	0.16	.	6.1132	0.20112	0.1554:0.0:0.6942:0.1505	.	169	Q96MN9	ZN488_HUMAN	L	169	ENSP00000379054:R169L	ENSP00000379054:R169L	R	+	2	0	ZNF488	47991044	0.572000	0.26668	0.001000	0.08648	0.291000	0.27294	2.262000	0.43285	0.295000	0.22570	0.561000	0.74099	CGA	-	NULL		0.582	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	protein_coding	OTTHUMT00000314632.1	G	NM_153034	-		48371038	1	no_errors	ENST00000395702	ensembl	human	known	74_37	missense	SNP	0.559	T	T	48371038	G	T	48371038	3	4	231	1	0	0	0	0	1	0	0	0	17947	1058	37	3	508	3	ZNF488	10	48371038	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	21852413	48371038	87163709	50	18709											
ANK3	288	genome.wustl.edu	37	chr10	61829275	61829275	+	Frame_Shift_Del	DEL	G	G	-													gaagaatccaaattgttgttGttattaaagttatctttttg							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr10:61829275delG	ENST00000280772.2	-	37	11555	c.11364delC	c.(11362-11364)aacfs	p.N3791fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3791	Poly-Asn.				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)			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						AATTGTTGTTGTTATTAAAGT	0.333																																																	0								ENSG00000151150						147	149	148					10																	61829275		2203	4300	6503	ANK3	SO:0001589	frameshift_variant	0				HGNC	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.11364delC	10.37:g.61829275delG	ENSP00000280772:p.Asn3791fs	Somatic	0	48	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.N3788fs	ENST00000280772.2	37	c.11364	CCDS7258.1	10																																																																																			-	NULL		0.333	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	G	NM_020987			61829275	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	61829275	G	-	61829275	7	5	231	1	0	1	0	1	0	0	0	0	622	1368	48	0	2110	0	ANK3	10	61829275	Frame_Shift_Del	DEL	G	TCGA-X6-A7W8-01A-21D-A351-09	13458237	61829275	73705472	51	18710											
MUC6	4588	genome.wustl.edu	37	chr11	1018666	1018666	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgggcctcgtgggttGtcctggctgtggggtggttg	21	7	0	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:1018666G>C	ENST00000421673.2	-	31	4185	c.4135C>G	c.(4135-4137)Caa>Gaa	p.Q1379E		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1379	Pro-rich.|Thr-rich.				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)		CTCGTGGGTTGTCCTGGCTGT	0.607																																																	0								ENSG00000184956						173	197	189					11																	1018666		2171	4270	6441	MUC6	SO:0001583	missense	0			-	HGNC	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.4135C>G	11.37:g.1018666G>C	ENSP00000406861:p.Gln1379Glu	Somatic	0	180	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	58	31.76	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q1379E	ENST00000421673.2	37	c.4135	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	g	7.533	0.659046	0.14645	.	.	ENSG00000184956	ENST00000421673	T	0.17213	2.29	1.39	0.436	0.16549	.	.	.	.	.	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B	0.24426	0.103	B	0.09377	0.004	T	0.38866	-0.9641	9	0.02654	T	1	.	3.7332	0.08500	0.2518:0.0:0.7482:0.0	.	1379	Q6W4X9	MUC6_HUMAN	E	1379	ENSP00000406861:Q1379E	ENSP00000406861:Q1379E	Q	-	1	0	MUC6	1008666	0.000000	0.05858	0.000000	0.03702	0.509000	0.34042	-1.052000	0.03503	0.171000	0.19730	0.298000	0.19748	CAA	-	NULL		0.607	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	G	XM_290540	-		1018666	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	SNP	0.000	C	C	1018666	G	C	1018666	3	2	231	1	0	0	0	0	1	0	0	0	9982	1386	48	4	3196	4	MUC6	11	1018666	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		1018666	133987850	52	18711											
ZNF215	7762	genome.wustl.edu	37	chr11	6977493	6977493	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttactaagcatcaaaaacttCatgctgaagcaaaggcctgc	7	10	2	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:6977493C>A	ENST00000278319.5	+	7	1873	c.1285C>A	c.(1285-1287)Cat>Aat	p.H429N	ZNF215_ENST00000414517.2_Missense_Mutation_p.H429N|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	429					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCAAAAACTTCATGCTGAAGC	0.393																																																	0								ENSG00000149054						78	77	77					11																	6977493		2201	4296	6497	ZNF215	SO:0001583	missense	0			-	HGNC	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1285C>A	11.37:g.6977493C>A	ENSP00000278319:p.His429Asn	Somatic	0	134	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	Q96C84	Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.H429N	ENST00000278319.5	37	c.1285	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941175	0.53079	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.70869	-0.52;-0.52	4.74	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000461	D	0.82692	0.5092	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.84741	0.0751	10	0.87932	D	0	-13.2613	10.8648	0.46849	0.0:0.9077:0.0:0.0923	.	429	Q9UL58	ZN215_HUMAN	N	429	ENSP00000278319:H429N;ENSP00000393202:H429N	ENSP00000278319:H429N	H	+	1	0	ZNF215	6934069	1.000000	0.71417	0.378000	0.26068	0.331000	0.28603	7.141000	0.77330	1.366000	0.46076	0.655000	0.94253	CAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	protein_coding	OTTHUMT00000384550.1	C		-		6977493	1	no_errors	ENST00000278319	ensembl	human	known	74_37	missense	SNP	0.994	A	A	6977493	C	A	6977493	3	1	231	1	0	0	0	0	1	0	0	0	17778	826	29	3	1303	3	ZNF215	11	6977493	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	5958827	6977493	128029023	53	18712											
C11orf2	738	genome.wustl.edu	37	chr11	64864491	64864491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtagagagtgccctctgGcccagttgatggacagtgag	15	9	1	3			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:64864491G>T	ENST00000279281.3	+	2	342	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S		NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	84					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GTGCCCTCTGGCCCAGTTGAT	0.552																																																	0								ENSG00000149823						65	52	56					11																	64864491		2201	4297	6498	VPS51	SO:0001583	missense	0			-	HGNC	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.250G>T	11.37:g.64864491G>T	ENSP00000279281:p.Ala84Ser	Somatic	0	63	0		0.630342926830615	56	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	12.90	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP							pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.A84S	ENST00000279281.3	37	c.250	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910574	0.33721	.	.	ENSG00000149823	ENST00000528588;ENST00000530773;ENST00000279281;ENST00000529180	.	.	.	5.19	5.19	0.71726	.	0.170374	0.52532	D	0.000075	T	0.29817	0.0745	N	0.04820	-0.15	0.40504	D	0.980672	B	0.14012	0.009	B	0.16722	0.016	T	0.16012	-1.0417	9	0.22109	T	0.4	-0.9063	11.1582	0.48499	0.0:0.0:0.8164:0.1836	.	84	Q9UID3	FFR_HUMAN	S	114;84;84;84	.	ENSP00000279281:A84S	A	+	1	0	C11orf2	64621067	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.582000	0.36568	2.704000	0.92352	0.655000	0.94253	GCC	-	pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N		0.552	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	protein_coding	OTTHUMT00000385217.1	G	NM_013265	-		64864491	1	no_errors	ENST00000279281	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64864491	G	T	64864491	3	4	231	1	0	0	0	0	1	0	0	0	1635	1203	42	3	256	3	C11orf2	11	64864491	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	57886998	64864491	70142025	54	18713											
SLCO2B1	11309	genome.wustl.edu	37	chr11	74911337	74911337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatcctgcgactcaacGtgcagccatctggtggtgcc	13	13	2	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:74911337G>A	ENST00000289575.5	+	11	2063	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	SLCO2B1_ENST00000525650.1_Silent_p.T412T|SLCO2B1_ENST00000531756.1_Silent_p.T301T|SLCO2B1_ENST00000454962.2_Silent_p.T329T|SLCO2B1_ENST00000428359.2_Silent_p.T534T|SLCO2B1_ENST00000532236.1_Silent_p.T440T|SLCO2B1_ENST00000341411.4_Silent_p.T329T	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	556					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCGACTCAACGTGCAGCCATC	0.602																																																	0								ENSG00000137491						126	114	118					11																	74911337		2200	4293	6493	SLCO2B1	SO:0001819	synonymous_variant	0			-	HGNC	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1668G>A	11.37:g.74911337G>A		Somatic	0	51	0		0.630342926830615	71	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	6	70.00	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP							pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.T556	ENST00000289575.5	37	c.1668	CCDS8235.1	11																																																																																			-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.602	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	protein_coding	OTTHUMT00000383933.1	G	NM_007256	-		74911337	1	no_errors	ENST00000289575	ensembl	human	known	74_37	silent	SNP	0.994	A	A	74911337	G	A	74911337	2	1	231	1	0	0	0	0	0	0	0	1	14735	1132	40	1		1	SLCO2B1	11	74911337	Silent	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	10046846	74911337	60095179	55	18714											
FAT3	120114	genome.wustl.edu	37	chr11	92495307	92495307	+	Frame_Shift_Del	DEL	T	T	-													tggtttcttctagaaagcagTttacagcaggcagttatgac							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:92495307delT	ENST00000298047.6	+	4	3972	c.3955delT	c.(3955-3957)tttfs	p.F1319fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.F1319fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.F1169fs|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1319	Cadherin 12. {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)				TAGAAAGCAGTTTACAGCAGG	0.448										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						72	69	70					11																	92495307		1885	4125	6010	FAT3	SO:0001589	frameshift_variant	0				HGNC	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.3955delT	11.37:g.92495307delT	ENSP00000298047:p.Phe1319fs	Somatic	0	86	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	13	63.89	B5MDB0|Q96AU6	Frame_Shift_Del	DEL							pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F1319fs	ENST00000298047.6	37	c.3955		11																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		T	NM_001008781			92495307	1	no_errors	ENST00000298047	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	92495307	T	-	92495307	7	5	231	1	0	1	0	1	0	0	0	0	5693	1725	60	0	3969	0	FAT3	11	92495307	Frame_Shift_Del	DEL	T	TCGA-X6-A7W8-01A-21D-A351-09	17583970	92495307	42511209	56	18715											
TECTA	7007	genome.wustl.edu	37	chr11	121061441	121061441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcttcaatggaacttcaaGtctggacgcttcttctcatc	6	11	6	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:121061441G>T	ENST00000392793.1	+	24	6665	c.6394G>T	c.(6394-6396)Gtc>Ttc	p.V2132F	TECTA_ENST00000264037.2_Missense_Mutation_p.V2132F			O75443	TECTA_HUMAN	tectorin alpha	2132					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAACTTCAAGTCTGGACGCT	0.393																																																	0								ENSG00000109927						104	94	98					11																	121061441		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6394G>T	11.37:g.121061441G>T	ENSP00000376543:p.Val2132Phe	Somatic	0	111	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	19	50.00		Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.V2132F	ENST00000392793.1	37	c.6394	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380406	0.24944	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.38560	1.13;1.13	5.19	4.28	0.50868	.	0.229289	0.30593	N	0.009287	T	0.26048	0.0635	N	0.19112	0.55	0.28239	N	0.925787	P	0.37015	0.578	B	0.30029	0.11	T	0.13926	-1.0491	10	0.56958	D	0.05	.	12.4102	0.55464	0.0826:0.0:0.9173:0.0	.	2132	O75443	TECTA_HUMAN	F	2132	ENSP00000376543:V2132F;ENSP00000264037:V2132F	ENSP00000264037:V2132F	V	+	1	0	TECTA	120566651	0.983000	0.35010	0.613000	0.29037	0.147000	0.21601	2.226000	0.42963	1.173000	0.42796	0.650000	0.86243	GTC	-	NULL		0.393	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	G	NM_005422	-		121061441	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	0.984	T	T	121061441	G	T	121061441	3	4	231	1	0	0	0	0	1	0	0	0	15754	1029	36	3	6484	3	TECTA	11	121061441	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	28566134	121061441	13945075	57	18716											
OR6X1	390260	genome.wustl.edu	37	chr11	123624968	123624968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcagattactgttcTtgccactacaaaggttccta	8	10	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr11:123624968T>C	ENST00000327930.2	-	1	285	c.259A>G	c.(259-261)Aga>Gga	p.R87G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTACTGTTCTTGCCACTACA	0.463																																																	0								ENSG00000221931						151	147	148					11																	123624968		2202	4299	6501	OR6X1	SO:0001583	missense	0			-	HGNC	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.259A>G	11.37:g.123624968T>C	ENSP00000333724:p.Arg87Gly	Somatic	0	124	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	B9EGW9|Q6IFA0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R87G	ENST00000327930.2	37	c.259	CCDS31695.1	11	.	.	.	.	.	.	.	.	.	.	T	6.957	0.546465	0.13312	.	.	ENSG00000221931	ENST00000327930	T	0.03035	4.07	4.19	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03783	0.0107	L	0.39397	1.21	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40232	-0.9574	9	0.72032	D	0.01	-0.0108	4.2772	0.10815	0.0:0.1077:0.2042:0.6881	.	87	Q8NH79	OR6X1_HUMAN	G	87	ENSP00000333724:R87G	ENSP00000333724:R87G	R	-	1	2	OR6X1	123130178	0.000000	0.05858	0.001000	0.08648	0.766000	0.43426	0.258000	0.18387	0.674000	0.31244	0.528000	0.53228	AGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	protein_coding	OTTHUMT00000387436.1	T	NM_001005188	-		123624968	-1	no_errors	ENST00000327930	ensembl	human	known	74_37	missense	SNP	0.000	C	C	123624968	T	C	123624968	3	2	231	1	0	0	0	0	1	0	0	0	11214	1617	56	5	681	5	OR6X1	11	123624968	Missense_Mutation	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09	2563527	123624968	11381548	58	18717											
TRHDE	29953	genome.wustl.edu	37	chr12	72866951	72866951	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagactacctctatcctggCtggaacatggtaagtgcact	9	11	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr12:72866951C>A	ENST00000261180.4	+	5	1536	c.1440C>A	c.(1438-1440)ggC>ggA	p.G480G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	480					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTATCCTGGCTGGAACATGG	0.418																																																	0								ENSG00000072657						263	233	243					12																	72866951		2203	4300	6503	TRHDE	SO:0001819	synonymous_variant	0			-	HGNC	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1440C>A	12.37:g.72866951C>A		Somatic	0	66	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	A5PL19|Q6UWJ4	Silent	SNP							pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G480	ENST00000261180.4	37	c.1440	CCDS9004.1	12																																																																																			-	pfam_Peptidase_M1_N		0.418	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	protein_coding	OTTHUMT00000405380.1	C	NM_013381	-		72866951	1	no_errors	ENST00000261180	ensembl	human	known	74_37	silent	SNP	1.000	A	A	72866951	C	A	72866951	2	1	231	1	0	0	0	0	0	0	0	1	16486	784	28	3		3	TRHDE	12	72866951	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09		72866951	60984944	59	18718											
VEZT	55591	genome.wustl.edu	37	chr12	95693942	95693942	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttttttatttgaagcCgtgttgaaatccttgtctcc	6	8	2	2	rs529936457		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr12:95693942C>T	ENST00000436874.1	+	12	1938	c.1833C>T	c.(1831-1833)gcC>gcT	p.A611A	VEZT_ENST00000261219.6_Splice_Site_p.A563A|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	611					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						tatttGAAGCCGTGTTGAAAT	0.303													C|||	1	0.000199681	0	0	5008	,	,		15726	0		0	False		,,,				2504	0.001																0								ENSG00000028203						12	10	11					12																	95693942		1723	3909	5632	VEZT	SO:0001630	splice_region_variant	0			-	HGNC	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1832-1C>T	12.37:g.95693942C>T		Somatic	0	150	0		0.630342926830615	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	50	26.47	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP							NULL	p.A611	ENST00000436874.1	37	c.1833	CCDS44954.1	12																																																																																			-	NULL		0.303	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	protein_coding	OTTHUMT00000407804.2	C	NM_017599	-	Silent	95693942	1	no_errors	ENST00000436874	ensembl	human	known	74_37	silent	SNP	1.000	T	T	95693942	C	T	95693942	5	4	231	1	0	0	0	0	0	0	1	0	17163	666	23	1	1879	1	VEZT	12	95693942	Splice_Site	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	22826991	95693942	38157953	60	18719											
ATP8A2	51761	genome.wustl.edu	37	chr13	26436460	26436460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtcatctggctgtctggGgaagcatgctgacctggctg	14	10	4	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr13:26436460G>A	ENST00000381655.2	+	33	3239	c.3097G>A	c.(3097-3099)Gga>Aga	p.G1033R	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G968R|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	993					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGCTGTCTGGGGAAGCATGCT	0.527																																																	0								ENSG00000132932						154	144	148					13																	26436460		2015	4177	6192	ATP8A2	SO:0001583	missense	0			-	HGNC	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3097G>A	13.37:g.26436460G>A	ENSP00000371070:p.Gly1033Arg	Somatic	0	132	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	99	20.80	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G1033R	ENST00000381655.2	37	c.3097	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145540	0.77888	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.75260	-0.92;-0.92	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89111	0.6622	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.993	D	0.91014	0.4852	10	0.87932	D	0	.	18.2203	0.89899	0.0:0.0:1.0:0.0	.	968;813;993	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	R	1033;968;813	ENSP00000371070:G1033R;ENSP00000255283:G968R	ENSP00000255283:G968R	G	+	1	0	ATP8A2	25334460	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.010000	0.93611	2.586000	0.87340	0.655000	0.94253	GGA	-	tigrfam_ATPase_P-typ_Plipid-transp		0.527	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	protein_coding	OTTHUMT00000044236.2	G	NM_016529	-		26436460	1	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	SNP	1.000	A	A	26436460	G	A	26436460	3	1	231	1	0	0	0	0	1	0	0	0	1193	1233	43	2	3227	2	ATP8A2	13	26436460	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		26436460	88733418	61	18720											
FREM2	341640	genome.wustl.edu	37	chr13	39438633	39438633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggttccactaccttgCgcttctaccggaacctgaac	8	14	2	2	rs115492820		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr13:39438633C>T	ENST00000280481.7	+	16	8089	c.7873C>T	c.(7873-7875)Cgc>Tgc	p.R2625C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2625					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.R2625C(1)		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)		CACTACCTTGCGCTTCTACCG	0.453																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000150893						150	139	142					13																	39438633		2203	4300	6503	FREM2	SO:0001583	missense	0			-	HGNC	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.7873C>T	13.37:g.39438633C>T	ENSP00000280481:p.Arg2625Cys	Somatic	0	87	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	39	44.29	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP							pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R2625C	ENST00000280481.7	37	c.7873	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583810	0.65992	.	.	ENSG00000150893	ENST00000280481	T	0.22743	1.94	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.62282	-0.6887	10	0.87932	D	0	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	2625;2625	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2625	ENSP00000280481:R2625C	ENSP00000280481:R2625C	R	+	1	0	FREM2	38336633	1.000000	0.71417	0.991000	0.47740	0.352000	0.29268	3.875000	0.56108	2.651000	0.90000	0.650000	0.86243	CGC	-	NULL		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361	-		39438633	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39438633	C	T	39438633	3	4	231	1	0	0	0	0	1	0	0	0	6047	768	27	1	7935	1	FREM2	13	39438633	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	13002173	39438633	75731245	62	18721											
TPP2	7174	genome.wustl.edu	37	chr13	103295726	103295726	+	Splice_Site	DEL	A	A	-													actgaagcttttcctgtcctAgtaagtttaattatagttta							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr13:103295726delA	ENST00000376065.4	+	17	2211	c.2175delA	c.(2173-2175)cta>ct	p.L725fs	TPP2_ENST00000376052.3_Splice_Site_p.L725fs	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	725					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCCTGTCCTAGTAAGTTTAA	0.333																																																	0								ENSG00000134900						56	55	55					13																	103295726		2203	4300	6503	TPP2	SO:0001630	splice_region_variant	0				HGNC	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2175+1A>-	13.37:g.103295726delA		Somatic	0	60	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q5VZU8	Frame_Shift_Del	DEL							pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.G726fs	ENST00000376065.4	37	c.2175	CCDS9502.1	13																																																																																			-	NULL		0.333	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	protein_coding	OTTHUMT00000045683.2	A			Frame_Shift_Del	103295726	1	no_errors	ENST00000376065	ensembl	human	known	74_37	frame_shift_del	DEL	0.989	-	-	103295726	A	-	103295726	8	5	231	1	0	1	0	1	0	0	1	0	16419	434	15	0	2241	0	TPP2	13	103295726	Splice_Site	DEL	A	TCGA-X6-A7W8-01A-21D-A351-09	63857093	103295726	11874152	63	18722											
IL25	64806	genome.wustl.edu	37	chr14	23844881	23844881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacctgtaccacgcccGttgcctgtgcccgcactgcg	11	18	0	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr14:23844881G>A	ENST00000329715.2	+	2	584	c.326G>A	c.(325-327)cGt>cAt	p.R109H	IL25_ENST00000397242.2_Missense_Mutation_p.R93H|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	109					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TACCACGCCCGTTGCCTGTGC	0.632																																																	0								ENSG00000166090						92	92	92					14																	23844881		2203	4300	6503	IL25	SO:0001583	missense	0			-	HGNC	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.326G>A	14.37:g.23844881G>A	ENSP00000328111:p.Arg109His	Somatic	0	103	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	59	19.18	Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP							pfam_IL-17_fam	p.R109H	ENST00000329715.2	37	c.326	CCDS9597.1	14	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002157	0.74932	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.57273	0.41;0.41	4.6	3.71	0.42584	.	0.113462	0.40640	N	0.001059	T	0.62307	0.2417	L	0.51422	1.61	0.32325	N	0.56185	D;B	0.89917	1.0;0.163	D;B	0.75484	0.986;0.042	T	0.68424	-0.5412	10	0.56958	D	0.05	-24.8202	8.15	0.31134	0.1085:0.0:0.8915:0.0	.	109;93	Q9H293;Q9H293-2	IL25_HUMAN;.	H	93;109	ENSP00000380417:R93H;ENSP00000328111:R109H	ENSP00000328111:R109H	R	+	2	0	IL25	22914721	0.107000	0.21998	0.943000	0.38184	0.973000	0.67179	0.630000	0.24553	1.162000	0.42619	0.561000	0.74099	CGT	-	pfam_IL-17_fam		0.632	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	protein_coding	OTTHUMT00000071789.2	G		-		23844881	1	no_errors	ENST00000329715	ensembl	human	known	74_37	missense	SNP	0.940	A	A	23844881	G	A	23844881	3	1	231	1	0	0	0	0	1	0	0	0	7680	1145	40	1	345	1	IL25	14	23844881	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		23844881	83504659	64	18723											
MYH7	4625	genome.wustl.edu	37	chr14	23902315	23902315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcatccaggagccgtagCgatccttgaggttgtagagc	13	9	1	3			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr14:23902315C>T	ENST00000355349.3	-	4	485	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	108	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|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)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGAGCCGTAGCGATCCTTGAG	0.567																																																	0								ENSG00000092054						234	159	184					14																	23902315		2203	4300	6503	MYH7	SO:0001583	missense	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.323G>A	14.37:g.23902315C>T	ENSP00000347507:p.Arg108His	Somatic	0	116	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	59	23.38	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R108H	ENST00000355349.3	37	c.323	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	c	16.13	3.036950	0.54896	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98531	-4.98	3.76	3.76	0.43208	Myosin head, motor domain (2);	.	.	.	.	D	0.99211	0.9726	H	0.99770	4.765	0.58432	D	0.999999	B	0.32283	0.362	B	0.43889	0.435	D	0.99937	1.1366	9	0.87932	D	0	.	16.1486	0.81594	0.0:1.0:0.0:0.0	.	108	P12883	MYH7_HUMAN	H	108	ENSP00000347507:R108H	ENSP00000347507:R108H	R	-	2	0	MYH7	22972155	1.000000	0.71417	0.781000	0.31783	0.018000	0.09664	7.487000	0.81328	2.095000	0.63458	0.455000	0.32223	CGC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	C	NM_000257	-		23902315	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23902315	C	T	23902315	3	4	231	1	0	0	0	0	1	0	0	0	10041	768	27	1	5632	1	MYH7	14	23902315	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	57434	23902315	83447225	65	18724											
PAX9	5083	genome.wustl.edu	37	chr14	37145611	37145611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgttcaagggaatgcAggcagccagagaaggtagtc	16	8	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr14:37145611A>G	ENST00000361487.6	+	4	1205	c.980A>G	c.(979-981)cAg>cGg	p.Q327R	PAX9_ENST00000402703.2_Missense_Mutation_p.Q327R|PAX9_ENST00000554201.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	327					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		AAGGGAATGCAGGCAGCCAGA	0.577																																																	0								ENSG00000198807						106	91	96					14																	37145611		2203	4300	6503	PAX9	SO:0001583	missense	0			-	HGNC	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.980A>G	14.37:g.37145611A>G	ENSP00000355245:p.Gln327Arg	Somatic	0	88	0		0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	Q99582|Q9UQR4	Missense_Mutation	SNP							pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.Q327R	ENST00000361487.6	37	c.980	CCDS9662.1	14	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664451	0.29604	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98835	-5.17;-5.17	6.16	4.96	0.65561	.	0.294047	0.39834	N	0.001255	D	0.96537	0.8870	L	0.47716	1.5	0.27376	N	0.955547	B	0.19817	0.039	B	0.10450	0.005	D	0.90928	0.4788	10	0.30078	T	0.28	.	12.6913	0.56976	0.7584:0.2416:0.0:0.0	.	327	P55771	PAX9_HUMAN	R	327	ENSP00000384817:Q327R;ENSP00000355245:Q327R	ENSP00000355245:Q327R	Q	+	2	0	PAX9	36215362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.498000	0.53302	2.367000	0.80283	0.528000	0.53228	CAG	-	NULL		0.577	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX9	protein_coding	OTTHUMT00000276733.2	A		-		37145611	1	no_errors	ENST00000361487	ensembl	human	known	74_37	missense	SNP	1.000	G	G	37145611	A	G	37145611	3	3	231	1	0	0	0	0	1	0	0	0	11488	188	7	5	994	5	PAX9	14	37145611	Missense_Mutation	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09	13243296	37145611	70203929	66	18725											
ESR2	2100	genome.wustl.edu	37	chr14	64724010	64724010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgagcgccacatcagcCccatcattaacacctccatc	4	17	2	1	rs553390407		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr14:64724010C>T	ENST00000341099.4	-	6	1442	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E	ESR2_ENST00000353772.3_Missense_Mutation_p.G342E|ESR2_ENST00000357782.2_Missense_Mutation_p.G342E|ESR2_ENST00000554572.1_Missense_Mutation_p.G342E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Missense_Mutation_p.G342E|ESR2_ENST00000542956.1_Missense_Mutation_p.G342E|ESR2_ENST00000557772.1_Missense_Mutation_p.G342E|ESR2_ENST00000358599.5_Missense_Mutation_p.G342E|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000553796.1_Missense_Mutation_p.G342E	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	342	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCACATCAGCCCCATCATTAA	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		17614	0		0	False		,,,				2504	0																0								ENSG00000140009						137	133	134					14																	64724010		2203	4300	6503	ESR2	SO:0001583	missense	0			-	HGNC	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1025G>A	14.37:g.64724010C>T	ENSP00000343925:p.Gly342Glu	Somatic	0	88	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.G342E	ENST00000341099.4	37	c.1025	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.359421	0.95854	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	5.96	5.96	0.96718	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	D	0.98839	1.0754	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	342;342;342;342	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	E	342	ENSP00000452485:G342E;ENSP00000441792:G342E;ENSP00000450699:G342E;ENSP00000335551:G342E;ENSP00000351412:G342E;ENSP00000450488:G342E;ENSP00000452426:G342E;ENSP00000350427:G342E;ENSP00000451582:G342E;ENSP00000343925:G342E	ENSP00000343925:G342E	G	-	2	0	ESR2	63793763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.832000	0.97577	0.655000	0.94253	GGG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.517	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	protein_coding	OTTHUMT00000280621.1	C		-		64724010	-1	no_errors	ENST00000341099	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64724010	C	T	64724010	3	4	231	1	0	0	0	0	1	0	0	0	5259	623	22	2	669	2	ESR2	14	64724010	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	27578399	64724010	42625530	67	18726											
EML5	161436	genome.wustl.edu	37	chr14	89110777	89110777	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagagtgagttttccttacCtctataggtctctttttctt	8	8	3	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr14:89110777C>A	ENST00000380664.5	-	28	4082	c.4083G>T	c.(4081-4083)gaG>gaT	p.E1361D	EML5_ENST00000352093.5_Splice_Site_p.E1323D|EML5_ENST00000554922.1_Splice_Site_p.E1369D			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1361						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTCCTTACCTCTATAGGTC	0.428																																																	0								ENSG00000165521						158	148	151					14																	89110777		1870	4090	5960	EML5	SO:0001630	splice_region_variant	0			-	HGNC	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4083+1G>T	14.37:g.89110777C>A		Somatic	0	75	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.81	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1369D	ENST00000380664.5	37	c.4107	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146804	0.57151	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.31769	1.48;1.48;1.48	5.0	5.0	0.66597	HELP (1);WD40 repeat-like-containing domain (1);	0.065914	0.64402	D	0.000013	T	0.42337	0.1198	L	0.42245	1.32	0.58432	D	0.999995	B;P	0.50156	0.032;0.932	B;P	0.54544	0.03;0.755	T	0.11591	-1.0581	9	.	.	.	-16.2142	18.2954	0.90145	0.0:1.0:0.0:0.0	.	1369;1361	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	D	1369;1323;1361	ENSP00000451998:E1369D;ENSP00000298315:E1323D;ENSP00000370039:E1361D	.	E	-	3	2	EML5	88180530	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.338000	0.79269	2.319000	0.78375	0.655000	0.94253	GAG	-	pfam_HELP		0.428	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	protein_coding	OTTHUMT00000410491.1	C		-	Missense_Mutation	89110777	-1	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89110777	C	A	89110777	5	1	231	1	0	0	0	0	0	0	1	0	5102	695	24	3	1886	3	EML5	14	89110777	Splice_Site	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	24386767	89110777	18238763	68	18727											
UNC13C	440279	genome.wustl.edu	37	chr15	54592542	54592542	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttgctatgcgttaTggaattgaatccatttatca	8	5	1	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr15:54592542T>C	ENST00000260323.11	+	12	4239	c.4239T>C	c.(4237-4239)taT>taC	p.Y1413Y	UNC13C_ENST00000537900.1_Silent_p.Y1411Y|UNC13C_ENST00000545554.1_Silent_p.Y1413Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1413					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTATGCGTTATGGAATTGAAT	0.358																																																	0								ENSG00000137766						99	90	93					15																	54592542		1843	4127	5970	UNC13C	SO:0001819	synonymous_variant	0			-	HGNC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4239T>C	15.37:g.54592542T>C		Somatic	0	107	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	70	15.48	Q0P613|Q8ND48|Q96NP3	Silent	SNP							pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Y1413	ENST00000260323.11	37	c.4239	CCDS45264.1	15																																																																																			-	NULL		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	T	NM_173166	-		54592542	1	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	SNP	0.999	C	C	54592542	T	C	54592542	2	2	231	1	0	0	0	0	0	0	0	1	16993	1471	51	5		5	UNC13C	15	54592542	Silent	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09		54592542	47938850	69	18728											
ABHD2	11057	genome.wustl.edu	37	chr15	89738609	89738609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaatgggagcgtaacaaGttgcagtgctctgacacgga	13	9	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr15:89738609G>T	ENST00000352732.5	+	11	1753	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	ABHD2_ENST00000565973.1_Missense_Mutation_p.K411N|ABHD2_ENST00000355100.3_Missense_Mutation_p.K411N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	411					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGCGTAACAAGTTGCAGTGCT	0.617																																					Colon(11;252 417 24570 33239 41878)												0								ENSG00000140526						91	78	83					15																	89738609		2200	4299	6499	ABHD2	SO:0001583	missense	0			-	HGNC	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1233G>T	15.37:g.89738609G>T	ENSP00000268129:p.Lys411Asn	Somatic	0	84	0		0.630342926830615	125	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP							pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.K411N	ENST00000352732.5	37	c.1233	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795576	0.50208	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.16897	2.31;2.31	5.93	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.32530	0.975	0.51233	D	0.999914	P	0.50272	0.933	P	0.44860	0.462	T	0.02539	-1.1144	10	0.40728	T	0.16	7.1383	10.2784	0.43523	0.2697:0.0:0.7303:0.0	.	411	P08910	ABHD2_HUMAN	N	411	ENSP00000268129:K411N;ENSP00000347217:K411N	ENSP00000268129:K411N	K	+	3	2	ABHD2	87539613	1.000000	0.71417	0.948000	0.38648	0.777000	0.43975	2.123000	0.41996	1.514000	0.48869	0.655000	0.94253	AAG	-	NULL		0.617	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	protein_coding	OTTHUMT00000309074.2	G		-		89738609	1	no_errors	ENST00000352732	ensembl	human	known	74_37	missense	SNP	0.814	T	T	89738609	G	T	89738609	3	4	231	1	0	0	0	0	1	0	0	0	82	1020	36	3	1267	3	ABHD2	15	89738609	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	35146067	89738609	12792783	70	18729											
GPS2	2874	genome.wustl.edu	37	chr17	7217236	7217236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactctcaccgtaagcacttGgggtccaaacatttgtttgg	9	10	1	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr17:7217236G>T	ENST00000380728.2	-	6	769	c.469C>A	c.(469-471)Caa>Aaa	p.Q157K	GPS2_ENST00000391950.3_Missense_Mutation_p.Q157K|GPS2_ENST00000389167.5_Missense_Mutation_p.Q157K|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	157					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTAAGCACTTGGGGTCCAAAC	0.512																																																	0								ENSG00000132522						148	138	142					17																	7217236		2203	4300	6503	GPS2	SO:0001583	missense	0			-	HGNC	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.469C>A	17.37:g.7217236G>T	ENSP00000370104:p.Gln157Lys	Somatic	0	80	0		0.630342926830615	188	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B4DXA1|Q6FHM8	Missense_Mutation	SNP							NULL	p.Q157K	ENST00000380728.2	37	c.469	CCDS11100.1	17	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486671	0.44249	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.44881	0.91;0.91	4.44	4.44	0.53790	.	0.461649	0.20217	U	0.096781	T	0.25121	0.0610	N	0.14661	0.345	0.26485	N	0.975032	B	0.33103	0.397	B	0.27380	0.079	T	0.11275	-1.0594	10	0.29301	T	0.29	.	14.4489	0.67372	0.0:0.0:1.0:0.0	.	157	Q13227	GPS2_HUMAN	K	157	ENSP00000370104:Q157K;ENSP00000379841:Q157K	ENSP00000319371:Q157K	Q	-	1	0	GPS2	7157960	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.737000	0.62066	2.478000	0.83669	0.561000	0.74099	CAA	-	NULL		0.512	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPS2	protein_coding	OTTHUMT00000220048.4	G	NM_004489	-		7217236	-1	no_errors	ENST00000380728	ensembl	human	known	74_37	missense	SNP	0.996	T	T	7217236	G	T	7217236	3	4	231	1	0	0	0	0	1	0	0	0	6735	1357	47	3	538	3	GPS2	17	7217236	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		7217236	73977974	71	18730											
DNAH2	146754	genome.wustl.edu	37	chr17	7644169	7644169	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcggtggatctctaCatgctgttcaatagcgagct	12	8	2	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr17:7644169C>G	ENST00000572933.1	+	11	3008	c.1548C>G	c.(1546-1548)taC>taG	p.Y516*	DNAH2_ENST00000082259.3_Nonsense_Mutation_p.Y598*|DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Y516*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.Y598*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	516	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGATCTCTACATGCTGTTCA	0.587																																																	0								ENSG00000183914						128	117	121					17																	7644169		2203	4300	6503	DNAH2	SO:0001587	stop_gained	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1548C>G	17.37:g.7644169C>G	ENSP00000458355:p.Tyr516*	Somatic	0	77	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	41	37.88	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y516*	ENST00000572933.1	37	c.1548	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.692288	0.97768	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	.	.	.	5.13	3.13	0.36017	.	0.475392	0.22314	N	0.061694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.794	0.46449	0.0:0.8411:0.0:0.1589	.	.	.	.	X	516;516;598	.	ENSP00000082259:Y598X	Y	+	3	2	DNAH2	7584894	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.685000	0.37659	0.594000	0.29761	-0.300000	0.09419	TAC	-	pfam_Dynein_heavy_dom-1		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	C	NM_020877	-		7644169	1	no_errors	ENST00000389173	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	7644169	C	G	7644169	4	3	231	1	0	0	0	0	0	1	0	0	4604	489	17	4	1586	4	DNAH2	17	7644169	Nonsense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	426933	7644169	73551041	72	18731											
SCO1	6341	genome.wustl.edu	37	chr17	10590121	10590121	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggccacttgatcgacctcttCtctcgtgccagtcaagccaa	8	15	3	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr17:10590121C>G	ENST00000255390.5	-	5	754	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	CTC-297N7.10_ENST00000584139.1_RNA|SCO1_ENST00000577427.1_Missense_Mutation_p.E201Q	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	232					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCGACCTCTTCTCTCGTGCCA	0.418																																					Melanoma(128;591 1731 19711 31891 44645)												0								ENSG00000133028						126	124	125					17																	10590121		2203	4300	6503	SCO1	SO:0001583	missense	0			-	HGNC	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.694G>C	17.37:g.10590121C>G	ENSP00000255390:p.Glu232Gln	Somatic	0	72	0		0.630342926830615	105	3.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	95	8.65	B2RDM0	Missense_Mutation	SNP							pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.E232Q	ENST00000255390.5	37	c.694	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697197	0.48202	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.88818	-2.43	5.88	3.57	0.40892	Thioredoxin-like fold (2);	0.251518	0.45606	D	0.000343	D	0.92489	0.7615	M	0.64676	1.99	0.36665	D	0.878165	D;P	0.67145	0.996;0.948	D;P	0.71184	0.972;0.711	D	0.94349	0.7577	10	0.56958	D	0.05	-16.9981	13.5491	0.61721	0.0:0.8534:0.0:0.1466	.	201;232	A8MY34;O75880	.;SCO1_HUMAN	Q	232;201	ENSP00000255390:E232Q	ENSP00000255390:E232Q	E	-	1	0	SCO1	10530846	1.000000	0.71417	0.980000	0.43619	0.063000	0.16089	5.759000	0.68785	1.495000	0.48549	0.555000	0.69702	GAA	-	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.418	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	protein_coding	OTTHUMT00000252729.2	C	NM_004589	-		10590121	-1	no_errors	ENST00000255390	ensembl	human	known	74_37	missense	SNP	0.616	G	G	10590121	C	G	10590121	3	3	231	1	0	0	0	0	1	0	0	0	13939	922	32	4	219	4	SCO1	17	10590121	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	2945952	10590121	70605089	73	18732											
SLC5A10	125206	genome.wustl.edu	37	chr17	18880226	18880226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catgccaaggcgggctccatCctggccagctacctcaagat	10	15	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr17:18880226C>G	ENST00000395645.3	+	9	924	c.906C>G	c.(904-906)atC>atG	p.I302M	SLC5A10_ENST00000395642.1_Missense_Mutation_p.I219M|SLC5A10_ENST00000395643.2_Missense_Mutation_p.I275M|SLC5A10_ENST00000317977.6_Missense_Mutation_p.I219M|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I302M|FAM83G_ENST00000345041.4_Intron|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.I302M	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	302					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CGGGCTCCATCCTGGCCAGCT	0.637																																																	0								ENSG00000154025						123	93	103					17																	18880226		2203	4300	6503	SLC5A10	SO:0001583	missense	0			-	HGNC		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.906C>G	17.37:g.18880226C>G	ENSP00000379007:p.Ile302Met	Somatic	0	72	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	111	18.84	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I302M	ENST00000395645.3	37	c.906	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380013	0.82682	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.97	2.87	0.33458	.	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.997;0.998;0.997;0.997	D;D;D;D;D	0.75020	0.985;0.975;0.985;0.975;0.975	D	0.93230	0.6616	10	0.87932	D	0	.	8.7972	0.34887	0.0:0.7379:0.1251:0.137	.	302;275;302;302;219	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	M	219;302;219;302;302;275	ENSP00000324346:I219M;ENSP00000379008:I302M;ENSP00000379004:I219M;ENSP00000401875:I302M;ENSP00000379007:I302M;ENSP00000379005:I275M	ENSP00000324346:I219M	I	+	3	3	SLC5A10	18820951	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.178000	0.42519	0.391000	0.25143	0.655000	0.94253	ATC	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	protein_coding	OTTHUMT00000132129.2	C	NM_152351	-		18880226	1	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	SNP	1.000	G	G	18880226	C	G	18880226	3	3	231	1	0	0	0	0	1	0	0	0	14670	845	30	4	940	4	SLC5A10	17	18880226	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	8290105	18880226	62314984	74	18733											
CCL3	6348	genome.wustl.edu	37	chr17	34416094	34416094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacagacctgccggcttCgcttggttaggaagctgtgg	14	11	0	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr17:34416094C>T	ENST00000225245.5	-	3	285	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	68		Involved in GAG binding.			astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCCGGCTTCGCTTGGTTAG	0.597																																																	0								ENSG00000006075						109	109	109					17																	34416094		2203	4300	6503	CCL3	SO:0001583	missense	0			-	HGNC	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"Chemokine ligands", "Endogenous ligands"	10627	protein-coding gene	gene with protein product		182283	"small inducible cytokine A3 (homologous to mouse Mip-1a)"	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.203G>A	17.37:g.34416094C>T	ENSP00000225245:p.Arg68Gln	Somatic	0	369	0		0.630342926830615	143	0.69	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	191	13.96		Missense_Mutation	SNP							pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R68Q	ENST00000225245.5	37	c.203	CCDS11307.1	17	.	.	.	.	.	.	.	.	.	.	.	15.25	2.778830	0.49891	.	.	ENSG00000006075	ENST00000225245	T	0.05025	3.51	5.82	-5.86	0.02304	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.754623	0.12169	N	0.493209	T	0.15349	0.0370	.	.	.	0.37367	D	0.911476	D	0.67145	0.996	P	0.58620	0.842	T	0.20273	-1.0280	9	0.51188	T	0.08	.	15.0724	0.72049	0.0:0.1582:0.0:0.8418	.	68	P10147	CCL3_HUMAN	Q	68	ENSP00000225245:R68Q	ENSP00000225245:R68Q	R	-	2	0	CCL3	31440207	0.000000	0.05858	0.502000	0.27614	0.050000	0.14768	-1.119000	0.03276	-0.904000	0.03876	-0.145000	0.13849	CGA	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom		0.597	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL3	protein_coding	OTTHUMT00000256581.1	C	NM_002983	-		34416094	-1	no_errors	ENST00000225245	ensembl	human	known	74_37	missense	SNP	0.587	T	T	34416094	C	T	34416094	3	4	231	1	0	0	0	0	1	0	0	0	2903	884	31	1	79	1	CCL3	17	34416094	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	15535868	34416094	46779116	75	18734											
C19orf26	255057	genome.wustl.edu	37	chr19	1235510	1235510	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacctcaccttgggctggGtgggtgccgttgtccaggta	15	11	1	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr19:1235510G>T	ENST00000382477.2	-	4	556	c.282C>A	c.(280-282)caC>caA	p.H94Q	C19orf26_ENST00000590083.1_Missense_Mutation_p.H100Q|C19orf26_ENST00000215376.6_Missense_Mutation_p.H94Q|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	94						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CTTGGGCTGGGTGGGTGCCGT	0.692										HNSCC(14;0.022)																																							0								ENSG00000099625						109	59	76					19																	1235510		2193	4297	6490	C19orf26	SO:0001583	missense	0			-	HGNC	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.282C>A	19.37:g.1235510G>T	ENSP00000371917:p.His94Gln	Somatic	0	65	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O43385	Missense_Mutation	SNP							NULL	p.H94Q	ENST00000382477.2	37	c.282		19	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392171	0.25118	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	4.2	3.1	0.35709	.	0.137629	0.49916	D	0.000129	T	0.19765	0.0475	N	0.04203	-0.255	0.35379	D	0.789727	B	0.16802	0.019	B	0.14023	0.01	T	0.22487	-1.0215	9	0.06236	T	0.91	-27.5401	9.5607	0.39366	0.0:0.2989:0.7011:0.0	.	94	Q8N350-2	.	Q	94	.	ENSP00000215376:H94Q	H	-	3	2	C19orf26	1186510	1.000000	0.71417	0.983000	0.44433	0.849000	0.48306	1.237000	0.32695	2.168000	0.68352	0.561000	0.74099	CAC	-	NULL		0.692	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	C19orf26	protein_coding		G	NM_152769	-		1235510	-1	no_errors	ENST00000382477	ensembl	human	known	74_37	missense	SNP	1.000	T	T	1235510	G	T	1235510	3	4	231	1	0	0	0	0	1	0	0	0	1918	1252	44	3	1085	3	C19orf26	19	1235510	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		1235510	57893473	76	18735											
MUC16	94025	genome.wustl.edu	37	chr19	9084637	9084637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcctgagatgctagtgGgactgatggaggctgtttta	13	6	1	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr19:9084637G>A	ENST00000397910.4	-	1	7381	c.7178C>T	c.(7177-7179)cCc>cTc	p.P2393L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2393	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						GATGCTAGTGGGACTGATGGA	0.468																																																	0								ENSG00000181143						116	115	115					19																	9084637		1975	4173	6148	MUC16	SO:0001583	missense	0			-	HGNC	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.7178C>T	19.37:g.9084637G>A	ENSP00000381008:p.Pro2393Leu	Somatic	0	113	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P2393L	ENST00000397910.4	37	c.7178	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.668	-0.509747	0.04231	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	0.225	0.225	0.15325	.	.	.	.	.	T	0.05364	0.0142	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.68483	0.958	T	0.41822	-0.9487	7	0.87932	D	0	.	.	.	.	.	2393	B5ME49	.	L	2393	ENSP00000381008:P2393L	ENSP00000381008:P2393L	P	-	2	0	MUC16	8945637	0.016000	0.18221	0.035000	0.18076	0.036000	0.12997	-0.270000	0.08584	0.300000	0.22699	0.305000	0.20034	CCC	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9084637	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.042	A	A	9084637	G	A	9084637	3	1	231	1	0	0	0	0	1	0	0	0	9975	1232	43	2	36681	2	MUC16	19	9084637	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	7849127	9084637	50044346	77	18736											
ZNF536	9745	genome.wustl.edu	37	chr19	30935152	30935152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggacctgaagcccccgcCgcacgcccagcaggccccgc	12	22	0	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr19:30935152C>T	ENST00000355537.3	+	2	830	c.683C>T	c.(682-684)cCg>cTg	p.P228L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	228					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCCCCCGCCGCACGCCCAG	0.736																																																	0								ENSG00000198597						3	3	3					19																	30935152		1717	3361	5078	ZNF536	SO:0001583	missense	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.683C>T	19.37:g.30935152C>T	ENSP00000347730:p.Pro228Leu	Somatic	0	27	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	6	57.14	A2RU18	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P228L	ENST00000355537.3	37	c.683	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	1.576	-0.532883	0.04112	.	.	ENSG00000198597	ENST00000355537	T	0.08807	3.05	5.92	3.79	0.43588	.	0.609346	0.19037	N	0.124393	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.23185	0.0;0.081	B;B	0.18561	0.0;0.022	T	0.40346	-0.9568	10	0.27785	T	0.31	-11.1058	8.8567	0.35231	0.3776:0.5532:0.0:0.0692	.	228;228	A7E228;O15090	.;ZN536_HUMAN	L	228	ENSP00000347730:P228L	ENSP00000347730:P228L	P	+	2	0	ZNF536	35626992	0.090000	0.21635	0.956000	0.39512	0.299000	0.27559	0.793000	0.26944	0.835000	0.34877	0.655000	0.94253	CCG	-	NULL		0.736	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	C	NM_014717	-		30935152	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	SNP	0.148	T	T	30935152	C	T	30935152	3	4	231	1	0	0	0	0	1	0	0	0	17981	652	23	1	685	1	ZNF536	19	30935152	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	21850515	30935152	28193831	78	18737											
CD22	933	genome.wustl.edu	37	chr19	35835957	35835957	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgcctttatttctcagttgGaagaggacacagagccagca	11	9	1	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr19:35835957G>C	ENST00000085219.5	+	11	2202	c.2136G>C	c.(2134-2136)tgG>tgC	p.W712C	CD22_ENST00000270311.6_Intron|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.W712C|CD22_ENST00000536635.2_Missense_Mutation_p.W624C|CD22_ENST00000594250.1_Missense_Mutation_p.W535C|CD22_ENST00000419549.2_Missense_Mutation_p.W540C|CD22_ENST00000341773.6_Missense_Mutation_p.W535C	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	712					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTCTCAGTTGGAAGAGGACAC	0.557																																					Ovarian(42;1009 1133 23674 26041)												0								ENSG00000012124						84	92	89					19																	35835957		2203	4300	6503	CD22	SO:0001583	missense	0			-	HGNC	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2136G>C	19.37:g.35835957G>C	ENSP00000085219:p.Trp712Cys	Somatic	0	78	0		0.630342926830615	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP							pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W712C	ENST00000085219.5	37	c.2136	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627424	0.46944	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.57273	0.92;0.53;0.41;0.88;0.99	5.32	5.32	0.75619	.	0.156294	0.30752	N	0.008957	T	0.71904	0.3395	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.95;0.992;0.996;0.921;0.997	T	0.75255	-0.3382	10	0.87932	D	0	.	14.497	0.67694	0.0:0.0:1.0:0.0	.	540;712;624;712;535	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	C	712;624;535;712;540	ENSP00000085219:W712C;ENSP00000442279:W624C;ENSP00000339349:W535C;ENSP00000441237:W712C;ENSP00000403822:W540C	ENSP00000085219:W712C	W	+	3	0	CD22	40527797	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.863000	0.48396	2.504000	0.84457	0.563000	0.77884	TGG	-	NULL		0.557	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	protein_coding	OTTHUMT00000466099.1	G	NM_001771	-		35835957	1	no_errors	ENST00000085219	ensembl	human	known	74_37	missense	SNP	1.000	C	C	35835957	G	C	35835957	3	2	231	1	0	0	0	0	1	0	0	0	2987	1183	41	4	2174	4	CD22	19	35835957	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	4900805	35835957	23293026	79	18738											
KLK9	284366	genome.wustl.edu	37	chr19	51506971	51506971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtctcacctggcaggaacCtcggcccccctcccacaggc	10	19	1	0	rs199604724		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr19:51506971C>A	ENST00000594211.1	-	4	592	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	KLK9_ENST00000250366.6_Missense_Mutation_p.G198C|KLK9_ENST00000376832.4_Missense_Mutation_p.G198C|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000600767.1_5'Flank|KLK8_ENST00000347619.4_5'Flank|KLK8_ENST00000391806.2_5'Flank|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000291726.7_5'Flank|KLK8_ENST00000320838.5_5'Flank			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	198	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGGCAGGAACCTCGGCCCCCC	0.592																																																	0								ENSG00000269741						77	68	71					19																	51506971		2203	4300	6503	KLK9	SO:0001583	missense	0			-	Uniprot_gn	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"Kallikreins"	6370	protein-coding gene	gene with protein product		605504	"kallikrein 9"			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.592G>T	19.37:g.51506971C>A	ENSP00000469417:p.Gly198Cys	Somatic	0	87	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	Q6QA55	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G198C	ENST00000594211.1	37	c.592	CCDS12816.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027004	0.75390	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.93953	-3.32;-3.32	4.68	4.68	0.58851	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95714	0.8606	M	0.65320	2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	D	0.95944	0.8949	9	0.87932	D	0	.	15.4784	0.75504	0.0:1.0:0.0:0.0	.	198;198	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	C	198	ENSP00000366028:G198C;ENSP00000250366:G198C	ENSP00000250366:G198C	G	-	1	0	KLK9	56198783	0.997000	0.39634	0.951000	0.38953	0.929000	0.56500	3.978000	0.56881	2.598000	0.87819	0.561000	0.74099	GGT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.592	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KLK9	protein_coding	OTTHUMT00000465226.1	C	NM_012315	-		51506971	-1	no_errors	ENST00000250366	ensembl	human	known	74_37	missense	SNP	0.994	A	A	51506971	C	A	51506971	3	1	231	1	0	0	0	0	1	0	0	0	8413	681	24	3	168	3	KLK9	19	51506971	Missense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	15671014	51506971	7622012	80	18739											
ANKRD5	63926	genome.wustl.edu	37	chr20	10033785	10033785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgccatggacgttgcaaaGgcatatgctgattatagaat	11	6	0	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr20:10033785G>T	ENST00000378380.3	+	8	2225	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.K632N|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	632							calcium ion binding (GO:0005509)										ACGTTGCAAAGGCATATGCTG	0.338																																																	0								ENSG00000132623						124	135	131					20																	10033785		2203	4300	6503	ANKEF1	SO:0001583	missense	0			-	HGNC	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1896G>T	20.37:g.10033785G>T	ENSP00000367631:p.Lys632Asn	Somatic	0	85	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.K632N	ENST00000378380.3	37	c.1896	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378377	0.42207	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.71222	-0.55;-0.55	5.39	-0.603	0.11630	Ankyrin repeat-containing domain (3);	0.293580	0.41294	D	0.000917	T	0.56247	0.1972	L	0.52823	1.66	0.40378	D	0.979418	P	0.43477	0.808	B	0.35607	0.206	T	0.53655	-0.8408	10	0.21540	T	0.41	0.0022	10.4711	0.44638	0.5033:0.0:0.4967:0.0	.	632	Q9NU02	ANKR5_HUMAN	N	632	ENSP00000367644:K632N;ENSP00000367631:K632N	ENSP00000367631:K632N	K	+	3	2	ANKRD5	9981785	0.989000	0.36119	0.996000	0.52242	0.920000	0.55202	0.161000	0.16481	0.013000	0.14918	0.655000	0.94253	AAG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.338	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	protein_coding	OTTHUMT00000077968.2	G	NM_022096	-		10033785	1	no_errors	ENST00000378380	ensembl	human	known	74_37	missense	SNP	0.908	T	T	10033785	G	T	10033785	3	4	231	1	0	0	0	0	1	0	0	0	676	991	35	3	1922	3	ANKRD5	20	10033785	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09		10033785	52991735	81	18740											
CABIN1	23523	genome.wustl.edu	37	chr22	24459595	24459614	+	Splice_Site	DEL	TTCCTGGCGCTGCAGGTTAG	TTCCTGGCGCTGCAGGTTAG	-													tttactggctgaaggctcgcTtcctggcgctgcaggttagt					rs376253454|rs534384469|rs373229152		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	TTCCTGGCGCTGCAGGTTAG	TTCCTGGCGCTGCAGGTTAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr22:24459595_24459614delTTCCTGGCGCTGCAGGTTAG	ENST00000398319.2	+	14	2255_2269	c.1870_1884delTTCCTGGCGCTGCAGGTTAG	c.(1870-1884)ttcctggcgctgcagdel	p.FLALQ624fs	CABIN1_ENST00000263119.5_Splice_Site_p.FLALQ624fs|CABIN1_ENST00000405822.2_Splice_Site_p.FLALQ574fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	624					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A626V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGGCTCGCTTCCTGGCGCTGCAGGTTAGTTCCATGGTC	0.568																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000099991																																			CABIN1	SO:0001630	splice_region_variant	0				HGNC	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1884+1TTCCTGGCGCTGCAGGTTAG>-	22.37:g.24459595_24459614delTTCCTGGCGCTGCAGGTTAG		Somatic					0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				G5E9F3|Q6PHY0|Q9Y460	Splice_Site	DEL							-	e14-1	ENST00000398319.2	37	c.1884+16_1884+1	CCDS13823.1	22																																																																																			-	-		0.568	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	protein_coding	OTTHUMT00000320161.2	TTCCTGGCGCTGCAGGTTAG	NM_012295		Frame_Shift_Del	24459614	1	no_errors	ENST00000263119	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.179:0.730:0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.613:0.610:0.813	-	-	24459614	TTCCTGGCGCTGCAGGTTAG	-	24459595	8	5	231	1	0	1	0	1	0	0	1	0	2530	1609	56	0	1920	0	CABIN1	22	24459595	Splice_Site	DEL	TTCCTGGCGCTGCAGGTTAG	TCGA-X6-A7W8-01A-21D-A351-09		24459595	26844971	82	18741											
SFI1	9814	genome.wustl.edu	37	chr22	32007165	32007165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttcagcgctggtgggactGcagccggaggtcagcccagc	16	12	2	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chr22:32007165G>T	ENST00000400288.2	+	23	2396	c.2291G>T	c.(2290-2292)tGc>tTc	p.C764F	SFI1_ENST00000400289.1_Missense_Mutation_p.C682F|SFI1_ENST00000414585.1_Missense_Mutation_p.C611F|SFI1_ENST00000443011.1_Missense_Mutation_p.C611F|SFI1_ENST00000540643.1_Missense_Mutation_p.C709F|SFI1_ENST00000432498.1_Missense_Mutation_p.C733F|SFI1_ENST00000443326.1_Missense_Mutation_p.C682F	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	764					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGTGGGACTGCAGCCGGAGG	0.602																																																	0								ENSG00000198089						71	79	76					22																	32007165		2167	4279	6446	SFI1	SO:0001583	missense	0			-	HGNC	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2291G>T	22.37:g.32007165G>T	ENSP00000383145:p.Cys764Phe	Somatic	0	74	0		0.630342926830615	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP							superfamily_Cyclin-like	p.C764F	ENST00000400288.2	37	c.2291	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.334339	0.01287	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.12361	3.21;3.21;3.05;3.04;3.02;3.05;3.17;2.69	5.24	0.356	0.16074	.	0.701486	0.14577	N	0.311095	T	0.12092	0.0294	N	0.08118	0	0.09310	N	1	P;P;D;P;P	0.65815	0.666;0.63;0.995;0.666;0.911	B;B;D;B;B	0.79108	0.294;0.243;0.992;0.294;0.346	T	0.17776	-1.0358	10	0.07813	T	0.8	.	6.995	0.24777	0.0843:0.0:0.3712:0.5445	.	709;670;682;733;764	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	F	733;709;682;611;611;682;764;347	ENSP00000402679:C733F;ENSP00000443025:C709F;ENSP00000416469:C682F;ENSP00000397148:C611F;ENSP00000401199:C611F;ENSP00000383146:C682F;ENSP00000383145:C764F;ENSP00000398871:C347F	ENSP00000383145:C764F	C	+	2	0	SFI1	30337165	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.139000	0.10358	0.198000	0.20407	0.561000	0.74099	TGC	-	NULL		0.602	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	protein_coding	OTTHUMT00000337180.3	G	NM_014775	-		32007165	1	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	SNP	0.000	T	T	32007165	G	T	32007165	3	4	231	1	0	0	0	0	1	0	0	0	14164	1319	46	3	2377	3	SFI1	22	32007165	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	7547570	32007165	19297401	83	18742											
MAGEB16	139604	genome.wustl.edu	37	chrX	35820764	35820764	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagatgatgagagccacTtctctgagatcctcctgaga	9	10	2	5			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:35820764T>A	ENST00000399989.1	+	2	730	c.451T>A	c.(451-453)Ttc>Atc	p.F151I	MAGEB16_ENST00000399992.1_Missense_Mutation_p.F183I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.F151I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.F151I|MAGEB16_ENST00000399988.1_Missense_Mutation_p.F151I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	151	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGAGCCACTTCTCTGAGAT	0.448																																																	0								ENSG00000189023						80	78	79					X																	35820764		2032	4173	6205	MAGEB16	SO:0001583	missense	0			-	HGNC		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.451T>A	X.37:g.35820764T>A	ENSP00000382871:p.Phe151Ile	Somatic	0	38	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	A8MU30	Missense_Mutation	SNP							pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.F183I	ENST00000399989.1	37	c.547	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311988	0.40895	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	3.13	1.95	0.26073	.	0.246954	0.42420	D	0.000720	T	0.29783	0.0744	M	0.92367	3.3	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09862	-1.0655	10	0.72032	D	0.01	.	4.6964	0.12806	0.0:0.1523:0.0:0.8477	.	151	A2A368	MAGBG_HUMAN	I	151;183;151;151;151	ENSP00000382870:F151I;ENSP00000382874:F183I;ENSP00000382869:F151I;ENSP00000382871:F151I;ENSP00000382867:F151I	ENSP00000382867:F151I	F	+	1	0	MAGEB16	35730685	0.004000	0.15560	0.001000	0.08648	0.046000	0.14306	1.101000	0.31037	0.446000	0.26666	-0.544000	0.04233	TTC	-	pfam_MAGE,pfscan_MAGE		0.448	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	protein_coding	OTTHUMT00000251034.1	T		-		35820764	1	no_errors	ENST00000399992	ensembl	human	known	74_37	missense	SNP	0.001	A	A	35820764	T	A	35820764	3	1	231	1	0	0	0	0	1	0	0	0	9176	1609	56	5	453	5	MAGEB16	23	35820764	Missense_Mutation	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09		35820764	119449796	84	18743											
SRPX	8406	genome.wustl.edu	37	chrX	38031204	38031204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtccgctcccctttcaaCgtgtatcctggtgaacaata	8	13	1	1	rs555263149		TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:38031204C>T	ENST00000378533.3	-	4	562	c.456G>A	c.(454-456)acG>acA	p.T152T	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Silent_p.T139T|SRPX_ENST00000538295.1_Silent_p.T152T|SRPX_ENST00000544439.1_Silent_p.T132T|SRPX_ENST00000432886.2_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	152	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						CCCCTTTCAACGTGTATCCTG	0.532													C|||	1	0.000264901	0	0	3775	,	,		13997	0		0	False		,,,				2504	0.001																0								ENSG00000101955						113	94	100					X																	38031204		2202	4300	6502	SRPX	SO:0001819	synonymous_variant	0			-	HGNC	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.456G>A	X.37:g.38031204C>T		Somatic	0	83	0		0.630342926830615	20	50	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP							pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.T152	ENST00000378533.3	37	c.456	CCDS14245.1	X																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.532	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	C	NM_006307	-		38031204	-1	no_errors	ENST00000378533	ensembl	human	known	74_37	silent	SNP	0.003	T	T	38031204	C	T	38031204	2	4	231	1	0	0	0	0	0	0	0	1	15171	523	19	1		1	SRPX	23	38031204	Silent	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	2210440	38031204	117239356	85	18744											
KIF4A	24137	genome.wustl.edu	37	chrX	69595981	69595981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaagatgctg	12	7	1	3	rs35473790	byFrequency	TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:69595981G>A	ENST00000374403.3	+	18	2037	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R652H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	652					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGTTAATGCGTCAAATGAAA	0.358													G|||	2	0.000529801	0	0.0029	3775	,	,		14013	0		0	False		,,,				2504	0																0								ENSG00000090889	G	HIS/ARG	2,3833		0,2,1630,571	79	73	75		1955	4.8	1	X	dbSNP_126	75	0,6728		0,0,2428,1872	yes	missense	KIF4A	NM_012310.4	29	0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189	probably-damaging	652/1233	69595981	2,10561	2203	4300	6503	KIF4A	SO:0001583	missense	0			-	HGNC	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1955G>A	X.37:g.69595981G>A	ENSP00000363524:p.Arg652His	Somatic	0	78	0		0.630342926830615	11	15.38	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	62	26.19	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R652H	ENST00000374403.3	37	c.1955	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457185	0.63401	5.22E-4	0.0	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.18174	2.23;2.23	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000024	T	0.15478	0.0373	L	0.46157	1.445	0.80722	D	1	P;B	0.36535	0.557;0.354	B;B	0.28784	0.066;0.094	T	0.03641	-1.1017	10	0.87932	D	0	.	14.2249	0.65853	0.0:0.0:1.0:0.0	rs35473790	652;652	O95239;O95239-2	KIF4A_HUMAN;.	H	652	ENSP00000363509:R652H;ENSP00000363524:R652H	ENSP00000363509:R652H	R	+	2	0	KIF4A	69512706	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.335000	0.65929	2.347000	0.79759	0.594000	0.82650	CGT	-	NULL		0.358	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	protein_coding	OTTHUMT00000057068.1	G	NM_012310	rs35473790		69595981	1	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69595981	G	A	69595981	3	1	231	1	0	0	0	0	1	0	0	0	8305	1145	40	1	2021	1	KIF4A	23	69595981	Missense_Mutation	SNP	G	TCGA-X6-A7W8-01A-21D-A351-09	31564777	69595981	85674579	86	18745											
LHFPL1	340596	genome.wustl.edu	37	chrX	111914311	111914311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgcagcaacccaggAcagcagctagtgccaccagg	10	16	0	0			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:111914311A>G	ENST00000371968.3	-	2	547	c.308T>C	c.(307-309)gTc>gCc	p.V103A	LHFPL1_ENST00000536453.1_Missense_Mutation_p.V103A|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	103						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCAACCCAGGACAGCAGCTAG	0.577																																																	0								ENSG00000182508						82	64	70					X																	111914311		2203	4300	6503	LHFPL1	SO:0001583	missense	0			-	HGNC	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.308T>C	X.37:g.111914311A>G	ENSP00000361036:p.Val103Ala	Somatic	0	22	0		0.630342926830615	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	5	89.80	A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.V103A	ENST00000371968.3	37	c.308	CCDS14562.1	X	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701089	0.68501	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.74526	-0.85;-0.85	5.29	5.29	0.74685	.	0.128495	0.49916	D	0.000127	T	0.69070	0.3070	L	0.55990	1.75	0.43417	D	0.995565	B;B	0.33000	0.149;0.393	B;B	0.31751	0.118;0.135	T	0.70565	-0.4837	10	0.52906	T	0.07	-36.4754	11.9977	0.53212	1.0:0.0:0.0:0.0	.	103;103	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	A	103	ENSP00000361036:V103A;ENSP00000444573:V103A	ENSP00000361036:V103A	V	-	2	0	LHFPL1	111800967	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.761000	0.91691	1.962000	0.57031	0.486000	0.48141	GTC	-	pfam_Lipome_HGMIC_fus_partner-like		0.577	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL1	protein_coding	OTTHUMT00000057947.1	A	NM_178175	-		111914311	-1	no_errors	ENST00000371968	ensembl	human	known	74_37	missense	SNP	1.000	G	G	111914311	A	G	111914311	3	3	231	1	0	0	0	0	1	0	0	0	8766	275	10	5	366	5	LHFPL1	23	111914311	Missense_Mutation	SNP	A	TCGA-X6-A7W8-01A-21D-A351-09	42318330	111914311	43356249	87	18746											
DOCK11	139818	genome.wustl.edu	37	chrX	117677515	117677515	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattggcacgtggtaaactaCaagtatgaggacttctctgg	12	7	1	1			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:117677515C>A	ENST00000276202.7	+	4	414	c.351C>A	c.(349-351)taC>taA	p.Y117*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.Y117*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	117	Interaction with activated CDC42. {ECO:0000250}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGTAAACTACAAGTATGAGG	0.353																																																	0								ENSG00000147251						172	151	158					X																	117677515		2203	4300	6503	DOCK11	SO:0001587	stop_gained	0			-	HGNC	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.351C>A	X.37:g.117677515C>A	ENSP00000276202:p.Tyr117*	Somatic	0	146	0		0.630342926830615	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	58	61.94	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Y117*	ENST00000276202.7	37	c.351	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.960679	0.97151	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.79	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7349	9.4507	0.38725	0.0:0.7913:0.0:0.2087	.	.	.	.	X	117	.	ENSP00000276202:Y117X	Y	+	3	2	DOCK11	117561543	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.972000	0.40540	0.395000	0.25257	0.544000	0.68410	TAC	-	pfam_DOCK_C/D_N		0.353	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	protein_coding	OTTHUMT00000356002.1	C	NM_144658	-		117677515	1	no_errors	ENST00000276202	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	117677515	C	A	117677515	4	1	231	1	0	0	0	0	0	1	0	0	4688	489	17	3	365	3	DOCK11	23	117677515	Nonsense_Mutation	SNP	C	TCGA-X6-A7W8-01A-21D-A351-09	5763204	117677515	37593045	88	18747											
SMARCA1	6594	genome.wustl.edu	37	chrX	128605244	128605245	+	Frame_Shift_Ins	INS	-	-	T													gaggttcagctccatcaatcINStttttttgctcttctctttg							TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:128605244_128605245insT	ENST00000371122.4	-	20	2630_2631	c.2501_2502insA	c.(2500-2502)aagfs	p.K834fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.K822fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.K822fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	834					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCCATCAATCTTTTTTTGCTC	0.356																																																	0								ENSG00000102038																																			SMARCA1	SO:0001589	frameshift_variant	0				HGNC	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2502dupA	X.37:g.128605251_128605251dupT	ENSP00000360163:p.Lys834fs	Somatic	0	46	0		0.630342926830615	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q5JV41|Q5JV42	Frame_Shift_Ins	INS							pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I835fs	ENST00000371122.4	37	c.2502_2501	CCDS14612.1	X																																																																																			-	pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom		0.356	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	protein_coding	OTTHUMT00000058206.1	-	NM_003069			128605245	-1	no_errors	ENST00000371122	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	128605245	-	T	128605244	7	5	231	1	0	1	1	0	0	0	0	0	14776	912	32	0	682	0	SMARCA1	23	128605244	Frame_Shift_Ins	INS	-	TCGA-X6-A7W8-01A-21D-A351-09	10927729	128605244	26665316	89	18748											
MTM1	4534	genome.wustl.edu	37	chrX	149840059	149840059	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgccccatgtgcaaacTcacttctgaggggggaccct	11	12	2	2			TCGA-X6-A7W8-01A-21D-A351-09	TCGA-X6-A7W8-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0652dca-c89d-47f8-a18f-551c96c2c9ba	f1797d64-b9fe-40ab-bd49-793905d5c8d8	g.chrX:149840059T>C	ENST00000370396.2	+	15	1857	c.1803T>C	c.(1801-1803)acT>acC	p.T601T	MTM1_ENST00000413012.2_Silent_p.T564T|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.T486T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	601					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGCAAACTCACTTCTGAG	0.478																																																	0								ENSG00000171100						76	67	70					X																	149840059		2203	4300	6503	MTM1	SO:0001819	synonymous_variant	0			-	HGNC	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1803T>C	X.37:g.149840059T>C		Somatic	0	55	0		0.630342926830615	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP							pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.T601	ENST00000370396.2	37	c.1803	CCDS14694.1	X																																																																																			-	NULL		0.478	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	protein_coding	OTTHUMT00000060847.3	T	NM_000252	-		149840059	1	no_errors	ENST00000370396	ensembl	human	known	74_37	silent	SNP	0.075	C	C	149840059	T	C	149840059	2	2	231	1	0	0	0	0	0	0	0	1	9939	1538	54	5		5	MTM1	23	149840059	Silent	SNP	T	TCGA-X6-A7W8-01A-21D-A351-09	21234815	149840059	5430501	90	18749											
CCDC27	148870	genome.wustl.edu	37	chr1	3679854	3679854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaggaggaaggggaCagggatgaggactcagagga	21	3	1	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:3679854C>A	ENST00000294600.2	+	7	1221	c.1137C>A	c.(1135-1137)gaC>gaA	p.D379E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	379	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		aggaaggggacagggatgagg	0.642																																																	0								ENSG00000162592						77	80	79					1																	3679854		2199	4300	6499	CCDC27	SO:0001583	missense	0			-	HGNC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1137C>A	1.37:g.3679854C>A	ENSP00000294600:p.Asp379Glu	Somatic	0	59	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	65	13.33	Q5TBV3|Q96M50	Missense_Mutation	SNP							superfamily_Prefoldin	p.D379E	ENST00000294600.2	37	c.1137	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	c	2.188	-0.385977	0.04966	.	.	ENSG00000162592	ENST00000294600	T	0.17370	2.28	3.64	-7.29	0.01451	.	2.086530	0.02203	N	0.062401	T	0.06554	0.0168	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.32719	-0.9896	10	0.02654	T	1	-0.4268	4.4248	0.11498	0.0851:0.3032:0.4264:0.1854	.	379	Q2M243	CCD27_HUMAN	E	379	ENSP00000294600:D379E	ENSP00000294600:D379E	D	+	3	2	CCDC27	3669714	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.044000	0.03532	-1.701000	0.01413	-1.753000	0.00675	GAC	-	NULL		0.642	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	C	NM_152492	-		3679854	1	no_errors	ENST00000294600	ensembl	human	known	74_37	missense	SNP	0.000	A	A	3679854	C	A	3679854	3	1	232	1	0	0	0	0	1	0	0	0	2803	477	17	3	1163	3	CCDC27	1	3679854	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		3679854	245570767	1	18750											
PTCHD2	57540	genome.wustl.edu	37	chr1	11577619	11577619	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctctgggcctctggAgcctctacctggcaccactg	11	16	3	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:11577619A>T	ENST00000294484.6	+	7	1987	c.1849A>T	c.(1849-1851)Agc>Tgc	p.S617C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S617C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	617					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGGCCTCTGGAGCCTCTACCT	0.617																																																	0								ENSG00000204624						63	67	66					1																	11577619		2019	4192	6211	PTCHD2	SO:0001583	missense	0			-	HGNC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1849A>T	1.37:g.11577619A>T	ENSP00000294484:p.Ser617Cys	Somatic	0	54	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	66	22.35	Q5VTU9|Q9UJD6	Missense_Mutation	SNP							pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.S617C	ENST00000294484.6	37	c.1849	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775642	0.70107	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85861	-2.04;-2.04	5.67	4.54	0.55810	.	0.315431	0.39985	N	0.001201	D	0.87966	0.6311	L	0.53249	1.67	0.39375	D	0.966157	D	0.63046	0.992	P	0.59761	0.863	D	0.88204	0.2886	10	0.62326	D	0.03	-33.5778	10.7531	0.46221	0.9258:0.0:0.0742:0.0	.	617	Q9P2K9	PTHD2_HUMAN	C	617	ENSP00000294484:S617C;ENSP00000374226:S617C	ENSP00000294484:S617C	S	+	1	0	PTCHD2	11500206	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	2.933000	0.48948	0.974000	0.38366	0.459000	0.35465	AGC	-	pfam_Patched		0.617	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	protein_coding	OTTHUMT00000005770.2	A	XM_052561	-		11577619	1	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	SNP	0.998	T	T	11577619	A	T	11577619	3	4	232	1	0	0	0	0	1	0	0	0	12738	304	11	5	1871	5	PTCHD2	1	11577619	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	7897765	11577619	237673002	2	18751											
EPHA8	2046	genome.wustl.edu	37	chr1	22903293	22903293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacccaagatgtactgcaGcgcggagggcgagtggctcg	15	12	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:22903293G>A	ENST00000166244.3	+	3	815	c.743G>A	c.(742-744)aGc>aAc	p.S248N	EPHA8_ENST00000374644.4_Missense_Mutation_p.S248N|EPHA8_ENST00000538803.1_Missense_Mutation_p.S248N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	248	Cys-rich.				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)			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)		ATGTACTGCAGCGCGGAGGGC	0.687																																																	0								ENSG00000070886						46	45	45					1																	22903293		2203	4300	6503	EPHA8	SO:0001583	missense	0			-	HGNC	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.743G>A	1.37:g.22903293G>A	ENSP00000166244:p.Ser248Asn	Somatic	0	77	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	94	8.74	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S248N	ENST00000166244.3	37	c.743	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800503	0.50315	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73047	-0.71;5.12;5.12	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	L	0.33710	1.025	0.52099	D	0.999944	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.979	T	0.67011	-0.5778	10	0.09084	T	0.74	.	15.0354	0.71741	0.0:0.0:1.0:0.0	.	248;248	P29322;P29322-2	EPHA8_HUMAN;.	N	248	ENSP00000166244:S248N;ENSP00000363775:S248N;ENSP00000440274:S248N	ENSP00000166244:S248N	S	+	2	0	EPHA8	22775880	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.787000	0.85759	2.103000	0.63969	0.442000	0.29010	AGC	-	pirsf_Tyr_kinase_ephrin_rcpt		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	G	NM_020526	-		22903293	1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	SNP	1.000	A	A	22903293	G	A	22903293	3	1	232	1	0	0	0	0	1	0	0	0	5175	971	34	2	753	2	EPHA8	1	22903293	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	11325674	22903293	226347328	3	18752											
PCSK9	255738	genome.wustl.edu	37	chr1	55521749	55521749	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcgggtgggtacagcCgcgtcctcaacgccgcctgc	14	17	1	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:55521749C>G	ENST00000302118.5	+	6	1173	c.883C>G	c.(883-885)Cgc>Ggc	p.R295G	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.R95G	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	295	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGGGTACAGCCGCGTCCTCAA	0.682																																					Pancreas(137;1454 1827 5886 22361 42375)												0								ENSG00000169174						17	19	18					1																	55521749		2195	4297	6492	PCSK9	SO:0001583	missense	0			-	HGNC	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.883C>G	1.37:g.55521749C>G	ENSP00000303208:p.Arg295Gly	Somatic	0	51	0		0.569485150938148	36	14.29	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	159	8.09	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R295G	ENST00000302118.5	37	c.883	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331316	0.41297	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	T;T	0.75938	-0.98;-0.98	3.88	2.67	0.31697	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.231782	0.35677	U	0.003050	T	0.66268	0.2772	L	0.54908	1.71	0.41689	D	0.989331	D	0.53619	0.961	B	0.40038	0.317	T	0.67126	-0.5749	10	0.62326	D	0.03	-10.4314	10.2589	0.43414	0.0:0.8811:0.0:0.1189	.	295	Q8NBP7	PCSK9_HUMAN	G	295;95	ENSP00000303208:R295G;ENSP00000441859:R95G	ENSP00000303208:R295G	R	+	1	0	PCSK9	55294337	1.000000	0.71417	0.455000	0.27031	0.967000	0.64934	3.024000	0.49674	0.517000	0.28361	0.563000	0.77884	CGC	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.682	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	protein_coding	OTTHUMT00000022280.1	C	NM_174936	-		55521749	1	no_errors	ENST00000302118	ensembl	human	known	74_37	missense	SNP	0.996	G	G	55521749	C	G	55521749	3	3	232	1	0	0	0	0	1	0	0	0	11608	652	23	4	905	4	PCSK9	1	55521749	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	32618456	55521749	193728872	4	18753											
MOV10	4343	genome.wustl.edu	37	chr1	113217542	113217542	+	Frame_Shift_Del	DEL	G	G	-													agccgccgccgcgatgcccaGtaagttcagctgccggcagc							TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:113217542delG	ENST00000413052.2	+	2	398	c.8delG	c.(7-9)agtfs	p.S3fs	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Frame_Shift_Del_p.S3fs|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Frame_Shift_Del_p.S3fs|MOV10_ENST00000369645.1_Frame_Shift_Del_p.S3fs	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	3					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCGATGCCCAGTAAGTTCAGC	0.657																																																	0								ENSG00000155363						40	49	46					1																	113217542		2203	4299	6502	MOV10	SO:0001589	frameshift_variant	0				HGNC	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.8delG	1.37:g.113217542delG	ENSP00000399797:p.Ser3fs	Somatic	0	102	0		0.569485150938148	27	3.57	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	50	24.24	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Frame_Shift_Del	DEL							superfamily_P-loop_NTPase	p.S3fs	ENST00000413052.2	37	c.8	CCDS853.1	1																																																																																			-	NULL		0.657	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	protein_coding	OTTHUMT00000032906.1	G	NM_020963			113217542	1	no_errors	ENST00000357443	ensembl	human	known	74_37	frame_shift_del	DEL	0.938	-	-	113217542	G	-	113217542	7	5	232	1	0	1	0	1	0	0	0	0	9720	1029	36	0	10	0	MOV10	1	113217542	Frame_Shift_Del	DEL	G	TCGA-X6-A7WC-01A-12D-A351-09	57695793	113217542	136033079	5	18754											
TCHHL1	126637	genome.wustl.edu	37	chr1	152058678	152058678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgttctttctcttgcccCcagtgtcctttctgctgcag	8	13	3	0	rs573540377		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:152058678C>T	ENST00000368806.1	-	3	1544	c.1480G>A	c.(1480-1482)Ggg>Agg	p.G494R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	494							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)			TCTCTTGCCCCCAGTGTCCTT	0.483													c|||	1	0.000199681	0	0	5008	,	,		22811	0.001		0	False		,,,				2504	0																0								ENSG00000182898						248	212	224					1																	152058678		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		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.1480G>A	1.37:g.152058678C>T	ENSP00000357796:p.Gly494Arg	Somatic	0	38	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	29	46.30	B2RPK8|Q5VTJ9	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub	p.G494R	ENST00000368806.1	37	c.1480	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	6.468	0.454596	0.12283	.	.	ENSG00000182898	ENST00000368806	T	0.27402	1.67	5.42	2.33	0.28932	.	0.799532	0.10597	N	0.656103	T	0.08088	0.0202	L	0.39898	1.24	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.41124	-0.9526	10	0.18710	T	0.47	-0.6338	6.8261	0.23885	0.0:0.6691:0.0:0.3309	.	494	Q5QJ38	TCHL1_HUMAN	R	494	ENSP00000357796:G494R	ENSP00000357796:G494R	G	-	1	0	TCHHL1	150325302	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.231000	0.17872	0.176000	0.19873	-0.157000	0.13467	GGG	-	NULL		0.483	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	C	XM_060104	-		152058678	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.002	T	T	152058678	C	T	152058678	3	4	232	1	0	0	0	0	1	0	0	0	15708	623	22	2	1238	2	TCHHL1	1	152058678	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	38841136	152058678	97191943	6	18755											
IVL	3713	genome.wustl.edu	37	chr1	152883319	152883319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagcacctggagcagcAggaggggcagctggagcacc	17	11	0	1	rs370427172		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:152883319A>G	ENST00000368764.3	+	2	1110	c.1046A>G	c.(1045-1047)cAg>cGg	p.Q349R	IVL_ENST00000392667.2_Missense_Mutation_p.Q203R			P07476	INVO_HUMAN	involucrin	349	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctggagcagcaggaggggcag	0.662																																																	0								ENSG00000163207						15	14	14					1																	152883319		2119	4168	6287	IVL	SO:0001583	missense	0			-	HGNC	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1046A>G	1.37:g.152883319A>G	ENSP00000357753:p.Gln349Arg	Somatic	0	89	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	82	9.89	Q5T7P4	Missense_Mutation	SNP							pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q349R	ENST00000368764.3	37	c.1046	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550225	0.45383	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11169	3.02;2.8	3.82	3.82	0.43975	.	.	.	.	.	T	0.04318	0.0119	L	0.34521	1.04	0.09310	N	1	P	0.42078	0.77	B	0.42995	0.404	T	0.33343	-0.9872	9	0.38643	T	0.18	.	10.8514	0.46771	1.0:0.0:0.0:0.0	.	349	P07476	INVO_HUMAN	R	349;203	ENSP00000357753:Q349R;ENSP00000376435:Q203R	ENSP00000357753:Q349R	Q	+	2	0	IVL	151149943	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	0.411000	0.21115	1.515000	0.48885	0.456000	0.33151	CAG	-	pfam_Involucrin_rpt		0.662	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	protein_coding	OTTHUMT00000034664.1	A	NM_005547	-		152883319	1	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	SNP	0.063	G	G	152883319	A	G	152883319	3	3	232	1	0	0	0	0	1	0	0	0	7931	188	7	5	1048	5	IVL	1	152883319	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	824641	152883319	96367302	7	18756											
LY9	4063	genome.wustl.edu	37	chr1	160771614	160771614	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttgtccgtccacgtcatCgagggtgaccaccgcacact	10	14	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:160771614C>T	ENST00000263285.6	+	2	484				LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368039.2_Silent_p.I163I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCACGTCATCGAGGGTGACC	0.527																																																	0								ENSG00000122224						115	119	118					1																	160771614		2203	4300	6503	LY9	SO:0001627	intron_variant	0			-	HGNC	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.454+1742C>T	1.37:g.160771614C>T		Somatic	0	90	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	64	21.95	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP							pfam_Ig_V-set,smart_Ig_sub	p.I163	ENST00000263285.6	37	c.489	CCDS30916.1	1																																																																																			-	NULL		0.527	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	protein_coding	OTTHUMT00000060457.3	C	NM_002348	-		160771614	1	no_errors	ENST00000368039	ensembl	human	known	74_37	silent	SNP	0.999	T	T	160771614	C	T	160771614	1	4	232	0	1	0	0	0	0	0	0	0	9103	874	31	1		1	LY9	1	160771614	Intron	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	7888295	160771614	88479007	8	18757											
PAPPA2	60676	genome.wustl.edu	37	chr1	176526055	176526055	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagtccaggcagcgtcgCcaagtgtggaagaggcgggc	17	11	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:176526055C>A	ENST00000367662.3	+	2	1761	c.597C>A	c.(595-597)cgC>cgA	p.R199R	PAPPA2_ENST00000367661.3_Silent_p.R199R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	199					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)			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						GGCAGCGTCGCCAAGTGTGGA	0.567																																																	0								ENSG00000116183						96	105	102					1																	176526055		1992	4143	6135	PAPPA2	SO:0001819	synonymous_variant	0			-	HGNC	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.597C>A	1.37:g.176526055C>A		Somatic	0	39	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R199	ENST00000367662.3	37	c.597	CCDS41438.1	1																																																																																			-	NULL		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	C		-		176526055	1	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	SNP	0.001	A	A	176526055	C	A	176526055	2	1	232	1	0	0	0	0	0	0	0	1	11435	726	26	3		3	PAPPA2	1	176526055	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	15754441	176526055	72724566	9	18758											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202385935	202385935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtattgatgaaaatttGgacatggtgaagtttctggt	12	3	1	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:202385935G>A	ENST00000608999.1	+	2	465	c.312G>A	c.(310-312)ttG>ttA	p.L104L	PPP1R12B_ENST00000356764.2_Silent_p.L104L|PPP1R12B_ENST00000336894.4_Silent_p.L104L|PPP1R12B_ENST00000480184.1_Silent_p.L104L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	104					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGAAAATTTGGACATGGTGA	0.453																																																	0								ENSG00000077157						130	127	128					1																	202385935		2203	4300	6503	PPP1R12B	SO:0001819	synonymous_variant	0			-	HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.312G>A	1.37:g.202385935G>A		Somatic	0	81	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	63	21.25	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L104	ENST00000608999.1	37	c.312	CCDS1426.1	1																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	G	NM_032105	-		202385935	1	no_errors	ENST00000336894	ensembl	human	known	74_37	silent	SNP	1.000	A	A	202385935	G	A	202385935	2	1	232	1	0	0	0	0	0	0	0	1	12360	1339	47	2		2	PPP1R12B	1	202385935	Silent	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	25859880	202385935	46864686	10	18759											
IARS2	55699	genome.wustl.edu	37	chr1	220273947	220273947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtattatcagaacttgGtagagaagctcagaatcttt	8	5	3	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:220273947G>T	ENST00000302637.5	+	3	610	c.506G>T	c.(505-507)gGt>gTt	p.G169V	IARS2_ENST00000366922.1_Missense_Mutation_p.G97V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	169					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCAGAACTTGGTAGAGAAGCT	0.358																																																	0								ENSG00000067704						61	67	65					1																	220273947		2203	4300	6503	IARS2	SO:0001583	missense	0			-	HGNC	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.506G>T	1.37:g.220273947G>T	ENSP00000303279:p.Gly169Val	Somatic	0	114	0		0.569485150938148	12	36.84	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	39	59.79	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.G169V	ENST00000302637.5	37	c.506	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272175	0.59649	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.55930	0.49;0.49	5.95	5.05	0.67936	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.092799	0.85682	D	0.000000	T	0.69780	0.3149	M	0.93241	3.395	0.80722	D	1	P	0.48998	0.918	P	0.49853	0.624	T	0.77624	-0.2518	10	0.87932	D	0	-9.2427	10.9359	0.47245	0.0686:0.0:0.7947:0.1367	.	169	Q9NSE4	SYIM_HUMAN	V	97;169	ENSP00000355889:G97V;ENSP00000303279:G169V	ENSP00000303279:G169V	G	+	2	0	IARS2	218340570	0.998000	0.40836	0.964000	0.40570	0.787000	0.44495	2.684000	0.46951	1.536000	0.49237	0.655000	0.94253	GGT	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase		0.358	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	protein_coding		G	NM_018060	-		220273947	1	no_errors	ENST00000302637	ensembl	human	known	74_37	missense	SNP	0.958	T	T	220273947	G	T	220273947	3	4	232	1	0	0	0	0	1	0	0	0	7476	1261	44	3	516	3	IARS2	1	220273947	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	17888012	220273947	28976674	11	18760											
OR2M3	127062	genome.wustl.edu	37	chr1	248367058	248367058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctgtcattcacatgggatCtggagagggtcgtcgcaaag	15	8	3	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr1:248367058C>T	ENST00000456743.1	+	1	727	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	230						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)			CACATGGGATCTGGAGAGGGT	0.443																																																	0								ENSG00000228198						274	264	268					1																	248367058		2203	4300	6503	OR2M3	SO:0001583	missense	0			-	HGNC		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.689C>T	1.37:g.248367058C>T	ENSP00000389625:p.Ser230Phe	Somatic	0	97	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	84	22.22	B9EH06|Q6IEY0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S230F	ENST00000456743.1	37	c.689	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	c	11.21	1.572043	0.28092	.	.	ENSG00000228198	ENST00000456743	T	0.00340	8.04	2.54	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31167	U	0.008122	T	0.00784	0.0026	H	0.95574	3.69	0.09310	N	1	P	0.36712	0.566	P	0.46850	0.529	T	0.01371	-1.1372	10	0.87932	D	0	.	13.0939	0.59180	0.0:1.0:0.0:0.0	.	230	Q8NG83	OR2M3_HUMAN	F	230	ENSP00000389625:S230F	ENSP00000389625:S230F	S	+	2	0	OR2M3	246433681	0.000000	0.05858	0.004000	0.12327	0.399000	0.30720	1.049000	0.30392	1.420000	0.47138	0.398000	0.26397	TCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	protein_coding	OTTHUMT00000097355.1	C	NM_001004689	-		248367058	1	no_errors	ENST00000456743	ensembl	human	known	74_37	missense	SNP	0.001	T	T	248367058	C	T	248367058	3	4	232	1	0	0	0	0	1	0	0	0	11013	913	32	2	691	2	OR2M3	1	248367058	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	28093111	248367058	883563	12	18761											
APOB	338	genome.wustl.edu	37	chr2	21234165	21234165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaaactccacaccctgaaCcttagcaacagtgtctgctt	6	14	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:21234165C>A	ENST00000233242.1	-	26	5702	c.5575G>T	c.(5575-5577)Gtt>Ttt	p.V1859F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1859					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)					ACACCCTGAACCTTAGCAACA	0.433																																																	0								ENSG00000084674						153	144	147					2																	21234165		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.5575G>T	2.37:g.21234165C>A	ENSP00000233242:p.Val1859Phe	Somatic	0	57	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	79	11.24	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V1859F	ENST00000233242.1	37	c.5575	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302592	0.23736	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00958	5.5	5.26	2.51	0.30379	.	0.296355	0.23539	N	0.047083	T	0.01730	0.0055	L	0.60455	1.87	0.22581	N	0.998961	P	0.45902	0.868	P	0.45577	0.486	T	0.42120	-0.9470	10	0.87932	D	0	.	8.9984	0.36066	0.0:0.5707:0.0:0.4293	.	1859	P04114	APOB_HUMAN	F	1859	ENSP00000233242:V1859F	ENSP00000233242:V1859F	V	-	1	0	APOB	21087670	0.000000	0.05858	0.008000	0.14137	0.702000	0.40608	-0.364000	0.07583	0.232000	0.21100	-0.806000	0.03193	GTT	-	NULL		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21234165	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.001	A	A	21234165	C	A	21234165	3	1	232	1	0	0	0	0	1	0	0	0	785	507	18	3	8132	3	APOB	2	21234165	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		21234165	221965208	13	18762											
CIB4	130106	genome.wustl.edu	37	chr2	26818157	26818157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcctttgtgggagaacactCtgcagatacggtctctgaaa	11	9	2	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:26818157C>T	ENST00000288861.4	-	4	268	c.215G>A	c.(214-216)aGa>aAa	p.R72K	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	72	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAACACTCTGCAGATACG	0.572																																																	0								ENSG00000157884						114	96	102					2																	26818157		2203	4300	6503	CIB4	SO:0001583	missense	0			-	HGNC		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"EF-hand domain containing"	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.215G>A	2.37:g.26818157C>T	ENSP00000288861:p.Arg72Lys	Somatic	0	53	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03	B2RU18	Missense_Mutation	SNP							smart_EF_hand_dom,pfscan_EF_hand_dom	p.R72K	ENST00000288861.4	37	c.215	CCDS33160.1	2	.	.	.	.	.	.	.	.	.	.	C	2.461	-0.324089	0.05350	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.66638	-0.22	6.08	0.0854	0.14441	EF-hand-like domain (1);	0.354917	0.27744	N	0.018034	T	0.32704	0.0838	N	0.02854	-0.475	0.22034	N	0.999404	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	10	0.08179	T	0.78	.	8.4457	0.32841	0.0:0.4812:0.0:0.5188	.	72	A0PJX0	CIB4_HUMAN	K	72;27;74	ENSP00000288861:R72K	ENSP00000288861:R72K	R	-	2	0	CIB4	26671661	0.431000	0.25546	0.465000	0.27155	0.265000	0.26407	0.399000	0.20916	-0.054000	0.13266	-0.229000	0.12294	AGA	-	NULL		0.572	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	protein_coding	OTTHUMT00000324709.1	C		-		26818157	-1	no_errors	ENST00000288861	ensembl	human	known	74_37	missense	SNP	0.606	T	T	26818157	C	T	26818157	3	4	232	1	0	0	0	0	1	0	0	0	3425	913	32	2	358	2	CIB4	2	26818157	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	5583992	26818157	216381216	14	18763											
INPP4A	3631	genome.wustl.edu	37	chr2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagtcaggaggtctccGcaaaaagctgcacaaatttg	9	8	2	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:99163121G>A	ENST00000523221.1	+	11	1127	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409016.4_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	376					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGGTCTCCGCAAAAAGCTG	0.458																																																	0								ENSG00000040933						64	64	64					2																	99163121		1903	4124	6027	INPP4A	SO:0001583	missense	0			-	HGNC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1127G>A	2.37:g.99163121G>A	ENSP00000427722:p.Arg376His	Somatic	0	59	0		0.569485150938148	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP							superfamily_C2_dom	p.R376H	ENST00000523221.1	37	c.1127	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.523740	0.96431	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	T	0.43637	-0.9379	10	0.12430	T	0.62	-21.0946	18.117	0.89559	0.0:0.0:1.0:0.0	.	376;376;376;376	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	H	376	ENSP00000386704:R376H;ENSP00000386777:R376H;ENSP00000074304:R376H;ENSP00000442149:R376H;ENSP00000387294:R376H;ENSP00000427722:R376H	ENSP00000074304:R376H	R	+	2	0	INPP4A	98529553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.757000	0.94681	0.655000	0.94253	CGC	-	NULL		0.458	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	protein_coding	OTTHUMT00000376095.1	G	NM_001566	-		99163121	1	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	SNP	1.000	A	A	99163121	G	A	99163121	3	1	232	1	0	0	0	0	1	0	0	0	7754	1087	38	1	1169	1	INPP4A	2	99163121	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	72344964	99163121	144036252	15	18764											
GLI2	2736	genome.wustl.edu	37	chr2	121746805	121746805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacccagcccggggctgcaCggccagcgcaggatggtggc	16	15	0	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:121746805C>T	ENST00000452319.1	+	14	3375	c.3315C>T	c.(3313-3315)caC>caT	p.H1105H	GLI2_ENST00000361492.4_Silent_p.H1105H|GLI2_ENST00000314490.11_Silent_p.H777H					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGGGCTGCACGGCCAGCGCA	0.677																																																	0								ENSG00000074047						48	55	52					2																	121746805		2203	4300	6503	GLI2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3315C>T	2.37:g.121746805C>T		Somatic	0	51	0		0.569485150938148	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1105	ENST00000452319.1	37	c.3315	CCDS33283.1	2																																																																																			-	NULL		0.677	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	protein_coding	OTTHUMT00000332293.3	C	NM_005270	-		121746805	1	no_errors	ENST00000361492	ensembl	human	known	74_37	silent	SNP	0.290	T	T	121746805	C	T	121746805	2	4	232	1	0	0	0	0	0	0	0	1	6440	535	19	1		1	GLI2	2	121746805	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	22583684	121746805	121452568	16	18765											
SCN7A	6332	genome.wustl.edu	37	chr2	167313506	167313506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcaagtatgcctaagaaCaaacttgccatataaaagga	8	7	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:167313506C>A	ENST00000409855.1	-	10	1290	c.1164G>T	c.(1162-1164)ttG>ttT	p.L388F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	388					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGCCTAAGAACAAACTTGCCA	0.348																																																	0								ENSG00000136546						76	65	69					2																	167313506		1813	4081	5894	SCN7A	SO:0001583	missense	0			-	HGNC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1164G>T	2.37:g.167313506C>A	ENSP00000386796:p.Leu388Phe	Somatic	0	69	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	28	40.43		Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L388F	ENST00000409855.1	37	c.1164	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464848	0.63513	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.99282	-5.68;-5.68;-5.68	5.35	3.46	0.39613	Ion transport (1);	0.339635	0.20677	N	0.087732	D	0.99321	0.9762	M	0.87971	2.92	0.33640	D	0.607124	D	0.89917	1.0	D	0.87578	0.998	D	0.99880	1.1112	10	0.87932	D	0	.	9.1405	0.36901	0.0:0.8095:0.0:0.1905	.	388	Q01118	SCN7A_HUMAN	F	388	ENSP00000386796:L388F;ENSP00000413699:L388F;ENSP00000403846:L388F	ENSP00000259060:L388F	L	-	3	2	SCN7A	167021752	0.998000	0.40836	1.000000	0.80357	0.885000	0.51271	0.567000	0.23608	0.548000	0.28955	-0.378000	0.06908	TTG	-	pfam_Ion_trans_dom		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	protein_coding	OTTHUMT00000333745.1	C		-		167313506	-1	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167313506	C	A	167313506	3	1	232	1	0	0	0	0	1	0	0	0	13931	477	17	3	3948	3	SCN7A	2	167313506	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	45566701	167313506	75885867	17	18766											
PTH2R	5746	genome.wustl.edu	37	chr2	209358326	209358326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggagaagccttccaggcCtatggaatctaacccagaca	9	11	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:209358326C>T	ENST00000272847.2	+	13	1808	c.1595C>T	c.(1594-1596)cCt>cTt	p.P532L	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	532					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.P532H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CCTTCCAGGCCTATGGAATCT	0.502																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000144407						85	85	85					2																	209358326		2203	4300	6503	PTH2R	SO:0001583	missense	0			-	HGNC	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1595C>T	2.37:g.209358326C>T	ENSP00000272847:p.Pro532Leu	Somatic	0	28	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	Q8N429	Missense_Mutation	SNP							pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P532L	ENST00000272847.2	37	c.1595	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012145	0.35511	.	.	ENSG00000144407	ENST00000272847	T	0.52754	0.65	5.71	3.91	0.45181	.	0.221037	0.22917	U	0.054073	T	0.43188	0.1236	M	0.65498	2.005	0.28284	N	0.923869	B;B	0.21309	0.054;0.002	B;B	0.17979	0.02;0.001	T	0.35475	-0.9787	9	.	.	.	.	8.7866	0.34825	0.1507:0.7705:0.0:0.0788	.	421;532	B4DFN8;P49190	.;PTH2R_HUMAN	L	532	ENSP00000272847:P532L	.	P	+	2	0	PTH2R	209066571	0.008000	0.16893	0.351000	0.25721	0.025000	0.11179	0.972000	0.29409	0.762000	0.33152	0.591000	0.81541	CCT	-	NULL		0.502	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	protein_coding	OTTHUMT00000256519.2	C	NM_005048	-		209358326	1	no_errors	ENST00000272847	ensembl	human	known	74_37	missense	SNP	0.122	T	T	209358326	C	T	209358326	3	4	232	1	0	0	0	0	1	0	0	0	12766	681	24	2	1645	2	PTH2R	2	209358326	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	42044820	209358326	33841047	18	18767											
TRPM8	79054	genome.wustl.edu	37	chr2	234894490	234894490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatcctgctggtcaacCtgctggtcgccatgtttggg	11	13	1	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr2:234894490C>A	ENST00000324695.4	+	21	2960	c.2920C>A	c.(2920-2922)Ctg>Atg	p.L974M	TRPM8_ENST00000433712.2_Missense_Mutation_p.L552M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	974					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)	GCTGGTCAACCTGCTGGTCGC	0.577																																																	0								ENSG00000144481						114	76	89					2																	234894490		2203	4300	6503	TRPM8	SO:0001583	missense	0			-	HGNC	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.2920C>A	2.37:g.234894490C>A	ENSP00000323926:p.Leu974Met	Somatic	0	46	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP							pfam_Ion_trans_dom	p.L974M	ENST00000324695.4	37	c.2920	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553098	0.65425	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.75154	-0.91;-0.91;-0.91	5.13	4.26	0.50523	Ion transport (1);	0.000000	0.47852	D	0.000209	D	0.83700	0.5311	M	0.67953	2.075	0.26567	N	0.97364	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77194	-0.2677	10	0.87932	D	0	-13.3469	12.6001	0.56492	0.0:0.919:0.0:0.081	.	552;974	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	M	974;552;235	ENSP00000323926:L974M;ENSP00000404423:L552M;ENSP00000414198:L235M	ENSP00000323926:L974M	L	+	1	2	TRPM8	234559229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.913000	0.56394	1.177000	0.42855	-0.186000	0.12905	CTG	-	pfam_Ion_trans_dom		0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	protein_coding	OTTHUMT00000131005.4	C	NM_024080	-		234894490	1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	SNP	1.000	A	A	234894490	C	A	234894490	3	1	232	1	0	0	0	0	1	0	0	0	16599	680	24	3	2998	3	TRPM8	2	234894490	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	25536164	234894490	8304883	19	18768											
EOMES	8320	genome.wustl.edu	37	chr3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC													ggcggcggcggcggcggcggINSctgcagcggcggagggcagc					rs368178421|rs1874198|rs3062761	byFrequency	TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767														2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0								ENSG00000163508			101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				EOMES	SO:0001652	inframe_insertion	0				HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla	Somatic					0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																			-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	-	NM_005442			27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	INS	0.116:0.075	CGGCGC	CGGCGC	27763428	-	CGGCGC	27763427	7	5	232	1	0	1	1	0	0	0	0	0	5149	1203	42	0	1725	0	EOMES	3	27763427	In_Frame_Ins	INS	-	TCGA-X6-A7WC-01A-12D-A351-09		27763427	170259003	20	18769											
LIMCH1	22998	genome.wustl.edu	37	chr4	41607964	41607964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaacagctgcacatcctaCagcggaacgacactaaacct	7	14	0	0	rs376258134		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr4:41607964C>T	ENST00000313860.7	+	6	483	c.429C>T	c.(427-429)taC>taT	p.Y143Y	LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000511496.1_5'UTR|LIMCH1_ENST00000512946.1_Silent_p.Y143Y|LIMCH1_ENST00000508501.1_Silent_p.Y143Y|LIMCH1_ENST00000512820.1_Silent_p.Y143Y|LIMCH1_ENST00000512632.1_Silent_p.Y143Y|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000503057.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	143					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCACATCCTACAGCGGAACGA	0.443																																																	0								ENSG00000064042	C	,,	1,4405	2.1+/-5.4	0,1,2202	140	124	129		429,429,429	-2.8	0	4		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LIMCH1	NM_001112717.1,NM_001112718.1,NM_014988.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	143/1058,143/1057,143/1084	41607964	1,13005	2203	4300	6503	LIMCH1	SO:0001819	synonymous_variant	0			-	HGNC	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.429C>T	4.37:g.41607964C>T		Somatic	0	55	0		0.569485150938148	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP							pfam_CH-domain,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_SM22_calponin,prints_Calponin	p.Y143	ENST00000313860.7	37	c.429	CCDS33977.1	4																																																																																			-	superfamily_CH-domain		0.443	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	protein_coding	OTTHUMT00000361249.2	C	NM_014988	-		41607964	1	no_errors	ENST00000313860	ensembl	human	known	74_37	silent	SNP	0.901	T	T	41607964	C	T	41607964	2	4	232	1	0	0	0	0	0	0	0	1	8799	489	17	2		2	LIMCH1	4	41607964	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		41607964	149546312	21	18770											
ATP8A1	10396	genome.wustl.edu	37	chr4	42445682	42445682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccccatatcgctatgTggctgaactgtagagcaagg	11	11	0	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr4:42445682T>C	ENST00000381668.5	-	33	3254	c.3023A>G	c.(3022-3024)cAc>cGc	p.H1008R	AC084010.1_ENST00000582816.1_RNA|ATP8A1_ENST00000264449.10_Missense_Mutation_p.H993R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1008					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATCGCTATGTGGCTGAACTG	0.433																																																	0								ENSG00000124406						93	83	86					4																	42445682		2203	4300	6503	ATP8A1	SO:0001583	missense	0			-	HGNC	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3023A>G	4.37:g.42445682T>C	ENSP00000371084:p.His1008Arg	Somatic	0	106	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	108	13.60	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.H1008R	ENST00000381668.5	37	c.3023	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279958	0.80692	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.67171	-0.25;-0.25	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.82879	0.5133	M	0.92784	3.345	0.80722	D	1	P;P;P	0.50369	0.934;0.905;0.905	P;P;P	0.55455	0.776;0.739;0.739	D	0.86355	0.1713	10	0.51188	T	0.08	.	15.628	0.76878	0.0:0.0:0.0:1.0	.	993;1008;1000	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	R	1008;993	ENSP00000371084:H1008R;ENSP00000264449:H993R	ENSP00000264449:H993R	H	-	2	0	ATP8A1	42140439	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.604000	0.82830	2.103000	0.63969	0.533000	0.62120	CAC	-	tigrfam_ATPase_P-typ_Plipid-transp		0.433	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	protein_coding	OTTHUMT00000216861.2	T	NM_006095	-		42445682	-1	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	SNP	1.000	C	C	42445682	T	C	42445682	3	2	232	1	0	0	0	0	1	0	0	0	1192	1696	59	5	491	5	ATP8A1	4	42445682	Missense_Mutation	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	837718	42445682	148708594	22	18771											
GABRA2	2555	genome.wustl.edu	37	chr4	46305540	46305540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacttgggagagaatgaCagtcatgatgcaaggcagat	13	5	1	5			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr4:46305540C>T	ENST00000510861.1	-	8	966	c.793G>A	c.(793-795)Gtc>Atc	p.V265I	GABRA2_ENST00000540012.1_Missense_Mutation_p.V210I|GABRA2_ENST00000514090.1_Missense_Mutation_p.V265I|GABRA2_ENST00000515082.1_Missense_Mutation_p.V265I|GABRA2_ENST00000356504.1_Missense_Mutation_p.V265I|GABRA2_ENST00000381620.4_Missense_Mutation_p.V265I|GABRA2_ENST00000507069.1_Missense_Mutation_p.V265I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	265					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGAGAATGACAGTCATGATG	0.393																																																	0								ENSG00000151834						139	136	137					4																	46305540		2203	4300	6503	GABRA2	SO:0001583	missense	0			-	HGNC		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.793G>A	4.37:g.46305540C>T	ENSP00000421828:p.Val265Ile	Somatic	0	77	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	68	29.90	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP							pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V210I	ENST00000510861.1	37	c.628	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.189177	0.94923	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	M	0.79258	2.445	0.80722	D	1	D;P;D	0.69078	0.997;0.942;0.996	D;P;D	0.85130	0.972;0.805;0.997	D	0.94141	0.7397	10	0.87932	D	0	.	18.0281	0.89275	0.0:1.0:0.0:0.0	.	210;265;265	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	I	265;265;265;265;210;265;265	ENSP00000421828:V265I;ENSP00000421300:V265I;ENSP00000371033:V265I;ENSP00000348897:V265I;ENSP00000444409:V210I;ENSP00000427603:V265I;ENSP00000423840:V265I	ENSP00000348897:V265I	V	-	1	0	GABRA2	46000297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.574000	0.86865	0.655000	0.94253	GTC	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	protein_coding	OTTHUMT00000360848.2	C		-		46305540	-1	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46305540	C	T	46305540	3	4	232	1	0	0	0	0	1	0	0	0	6163	478	17	2	574	2	GABRA2	4	46305540	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	3859858	46305540	144848736	23	18772											
TRIML2	205860	genome.wustl.edu	37	chr4	189026036	189026036	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagtcaatatgcttttAgctgcttcaagtttctccct	5	11	5	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr4:189026036A>T	ENST00000512729.1	-	2	464	c.90T>A	c.(88-90)gcT>gcA	p.A30A	TRIML2_ENST00000326754.3_Silent_p.A30A|TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000536972.1_Silent_p.A80A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	30					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATATGCTTTTAGCTGCTTCAA	0.383																																																	0								ENSG00000179046						223	207	212					4																	189026036		2203	4300	6503	TRIML2	SO:0001819	synonymous_variant	0			-	HGNC	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.90T>A	4.37:g.189026036A>T		Somatic	0	60	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	B7Z6J6	Silent	SNP							pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.A30	ENST00000512729.1	37	c.90	CCDS3850.1	4																																																																																			-	NULL		0.383	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	protein_coding	OTTHUMT00000359733.1	A	NM_173553	-		189026036	-1	no_errors	ENST00000512729	ensembl	human	known	74_37	silent	SNP	0.211	T	T	189026036	A	T	189026036	2	4	232	1	0	0	0	0	0	0	0	1	16558	407	15	5		5	TRIML2	4	189026036	Silent	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	142720496	189026036	2128240	24	18773											
KIAA0947	23379	genome.wustl.edu	37	chr5	5463531	5463531	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaccgatggtggggaagaaGacctgccagaacctgtggag	15	8	0	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr5:5463531G>T	ENST00000296564.7	+	13	4306	c.4084G>T	c.(4084-4086)Gac>Tac	p.D1362Y		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1362					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGGGGAAGAAGACCTGCCAGA	0.547																																																	0								ENSG00000164151						32	35	34					5																	5463531		2040	4187	6227	KIAA0947	SO:0001583	missense	0			-	HGNC																												ENST00000296564.7:c.4084G>T	5.37:g.5463531G>T	ENSP00000296564:p.Asp1362Tyr	Somatic	0	67	0		0.569485150938148	14	22.22	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	97	11.82	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP							superfamily_Vitellinogen_superhlx	p.D1362Y	ENST00000296564.7	37	c.4084	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	9.852	1.193969	0.22037	.	.	ENSG00000164151	ENST00000296564	T	0.11277	2.79	4.91	0.908	0.19326	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.39165	-0.9627	9	0.48119	T	0.1	2.3442	5.026	0.14385	0.2717:0.1512:0.5771:0.0	.	1362	Q9Y2F5	K0947_HUMAN	Y	1362	ENSP00000296564:D1362Y	ENSP00000296564:D1362Y	D	+	1	0	KIAA0947	5516531	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	0.115000	0.15540	0.117000	0.18138	0.305000	0.20034	GAC	-	NULL		0.547	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	protein_coding	OTTHUMT00000365575.1	G		-		5463531	1	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	SNP	0.001	T	T	5463531	G	T	5463531	3	4	232	1	0	0	0	0	1	0	0	0	8204	942	33	3	4134	3	KIAA0947	5	5463531	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09		5463531	175451729	25	18774											
C5orf36	285600	genome.wustl.edu	37	chr5	93752974	93752974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaacgtttgcaaatGtttgtggagaaaaactgcaa	8	6	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr5:93752974G>A	ENST00000513200.3	-	14	2666	c.2594C>T	c.(2593-2595)aCa>aTa	p.T865I	KIAA0825_ENST00000427991.2_Missense_Mutation_p.T865I|KIAA0825_ENST00000312498.7_Missense_Mutation_p.T870I	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	865										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GTTTGCAAATGTTTGTGGAGA	0.363																																																	0								ENSG00000185261						190	157	167					5																	93752974		692	1591	2283	KIAA0825	SO:0001583	missense	0			-	HGNC	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2594C>T	5.37:g.93752974G>A	ENSP00000424618:p.Thr865Ile	Somatic	0	79	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	O94914|Q6ZNN2	Missense_Mutation	SNP							NULL	p.T865I	ENST00000513200.3	37	c.2594		5	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114590	0.37339	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.44083	0.94;0.94;0.93	5.72	3.95	0.45737	.	0.166906	0.38897	N	0.001532	T	0.28797	0.0714	N	0.21448	0.665	0.24828	N	0.992549	B	0.12630	0.006	B	0.17433	0.018	T	0.21895	-1.0232	10	0.56958	D	0.05	.	9.643	0.39850	0.1627:0.0:0.8373:0.0	.	865	Q8IV33	K0825_HUMAN	I	865;865;870	ENSP00000424618:T865I;ENSP00000400288:T865I;ENSP00000312205:T870I	ENSP00000312205:T870I	T	-	2	0	KIAA0825	93778730	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	0.512000	0.22755	0.778000	0.33520	0.557000	0.71058	ACA	-	NULL		0.363	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	protein_coding	OTTHUMT00000254102.5	G	NM_173665	-		93752974	-1	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	SNP	1.000	A	A	93752974	G	A	93752974	3	1	232	1	0	0	0	0	1	0	0	0	2297	1377	48	2	1261	2	C5orf36	5	93752974	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	88289443	93752974	87162286	26	18775											
DMXL1	1657	genome.wustl.edu	37	chr5	118469962	118469962	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatttgtaaatactttctaGgtgcatactgcaactctcct	5	9	2	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr5:118469962G>T	ENST00000311085.8	+	13	2334		c.e13-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATACTTTCTAGGTGCATACTG	0.323																																																	0								ENSG00000172869						101	106	104					5																	118469962		2202	4299	6501	DMXL1	SO:0001630	splice_region_variant	0			-	HGNC	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2255-1G>T	5.37:g.118469962G>T		Somatic	0	40	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	23	37.84		Splice_Site	SNP							-	e13-1	ENST00000311085.8	37	c.2255-1	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702342	0.48307	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7464	0.96253	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118497861	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.275000	0.72594	2.667000	0.90743	0.563000	0.77884	.	-	-		0.323	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	G	NM_005509	-	Intron	118469962	1	no_errors	ENST00000539542	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	118469962	G	T	118469962	5	4	232	1	0	0	0	0	0	0	1	0	4596	1014	35	3	2304	3	DMXL1	5	118469962	Splice_Site	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	24716988	118469962	62445298	27	18776											
PCDHA10	56139	genome.wustl.edu	37	chr5	140236983	140236983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgcgcctgcgttcgcgcagtc	14	14	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr5:140236983C>T	ENST00000307360.5	+	1	1350	c.1350C>T	c.(1348-1350)aaC>aaT	p.N450N	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.N450N|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	450	Cadherin 4. {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)	p.N450K(2)|p.N450N(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCGCCTGCGT	0.682																																																	4	Substitution - Missense(2)|Substitution - coding silent(2)	ovary(2)|endometrium(2)						ENSG00000250120						102	95	97					5																	140236983		2196	4276	6472	PCDHA10	SO:0001819	synonymous_variant	0			-	HGNC	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1350C>T	5.37:g.140236983C>T		Somatic	1	156	0.64		0.569485150938148	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	86	111	43.65	A1L493|O75280|Q9NRU2	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N450	ENST00000307360.5	37	c.1350	CCDS54921.1	5																																																																																			-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	protein_coding	OTTHUMT00000372895.2	C	NM_018901	-		140236983	1	no_errors	ENST00000307360	ensembl	human	known	74_37	silent	SNP	0.906	T	T	140236983	C	T	140236983	2	4	232	1	0	0	0	0	0	0	0	1	11522	535	19	1		1	PCDHA10	5	140236983	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	21767021	140236983	40678277	28	18777											
PCDHA11	56138	genome.wustl.edu	37	chr5	140248722	140248722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggggattgggcaccCcacgactacagctctggctt	13	11	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr5:140248722C>T	ENST00000398640.2	+	1	34	c.34C>T	c.(34-36)Cca>Tca	p.P12S	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	12					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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGGCACCCCACGACTACA	0.522																																																	0								ENSG00000249158						90	103	99					5																	140248722		2186	4296	6482	PCDHA11	SO:0001583	missense	0			-	HGNC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.34C>T	5.37:g.140248722C>T	ENSP00000381636:p.Pro12Ser	Somatic	0	79	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	90	19.64	B2RN58|O75279	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P12S	ENST00000398640.2	37	c.34	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	0.972	-0.699938	0.03279	.	.	ENSG00000249158	ENST00000398640	T	0.48836	0.8	5.35	-1.86	0.07760	.	.	.	.	.	T	0.21921	0.0528	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27226	-1.0080	9	0.09084	T	0.74	.	6.2971	0.21091	0.0:0.254:0.371:0.375	.	12;12	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	12	ENSP00000381636:P12S	ENSP00000381636:P12S	P	+	1	0	PCDHA11	140228906	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.555000	0.00925	-0.826000	0.04284	-0.812000	0.03155	CCA	-	NULL		0.522	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	protein_coding	OTTHUMT00000372885.2	C	NM_018902	-		140248722	1	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	SNP	0.000	T	T	140248722	C	T	140248722	3	4	232	1	0	0	0	0	1	0	0	0	11523	623	22	2	36	2	PCDHA11	5	140248722	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	11739	140248722	40666538	29	18778											
OR2J2	26707	genome.wustl.edu	37	chr6	29141721	29141721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcatggttcaactttaCtttgttcttgcactgggaat	10	7	2	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr6:29141721C>T	ENST00000377167.2	+	1	411	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	103						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(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCAACTTTACTTTGTTCTTG	0.483																																																	0								ENSG00000204700						246	224	231					6																	29141721		2046	4188	6234	OR2J2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.309C>T	6.37:g.29141721C>T		Somatic	0	73	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y103	ENST00000377167.2	37	c.309	CCDS43434.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.483	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	protein_coding	OTTHUMT00000076131.2	C		-		29141721	1	no_errors	ENST00000377167	ensembl	human	known	74_37	silent	SNP	0.400	T	T	29141721	C	T	29141721	2	4	232	1	0	0	0	0	0	0	0	1	11005	576	20	2		2	OR2J2	6	29141721	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		29141721	141973346	30	18779											
NOTCH4	4855	genome.wustl.edu	37	chr6	32188547	32188547	+	Frame_Shift_Del	DEL	G	G	-													actcacctgtccaggtttctGggcagaggcaggtgtaggtg							TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr6:32188547delG	ENST00000375023.3	-	5	1046	c.908delC	c.(907-909)ccafs	p.P303fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	303	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGGTTTCTGGGCAGAGGCA	0.587																																																	0								ENSG00000204301						89	85	86					6																	32188547		2203	4300	6503	NOTCH4	SO:0001589	frameshift_variant	0				HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.908delC	6.37:g.32188547delG	ENSP00000364163:p.Pro303fs	Somatic	0	78	0		0.569485150938148	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	45	48.86	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Del	DEL							pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P303fs	ENST00000375023.3	37	c.908	CCDS34420.1	6																																																																																			-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.587	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	G				32188547	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	frame_shift_del	DEL	0.983	-	-	32188547	G	-	32188547	7	5	232	1	0	1	0	1	0	0	0	0	10553	1348	47	0	5207	0	NOTCH4	6	32188547	Frame_Shift_Del	DEL	G	TCGA-X6-A7WC-01A-12D-A351-09	3046826	32188547	138926520	31	18780	495	2									
NOTCH4	4855	genome.wustl.edu	37	chr6	32188548	32188548	+	Missense_Mutation	SNP	G	G	C													ctcacctgtccaggtttctgGgcagaggcaggtgtaggtgt							TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr6:32188548G>C	ENST00000375023.3	-	5	1045	c.907C>G	c.(907-909)Cca>Gca	p.P303A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	303	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGGTTTCTGGGCAGAGGCAG	0.582																																																	0								ENSG00000204301						89	85	86					6																	32188548		2203	4300	6503	NOTCH4	SO:0001583	missense	0			-	HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.907C>G	6.37:g.32188548G>C	ENSP00000364163:p.Pro303Ala	Somatic	0	78	0		0.569485150938148	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	47	47.78	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P303A	ENST00000375023.3	37	c.907	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008572	0.54361	.	.	ENSG00000204301	ENST00000375023	D	0.96073	-3.9	4.6	4.6	0.57074	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42294	D	0.000725	D	0.95108	0.8415	L	0.37750	1.13	0.80722	D	1	D;B	0.89917	1.0;0.255	D;B	0.91635	0.999;0.31	D	0.94376	0.7600	10	0.36615	T	0.2	.	14.9378	0.70970	0.0:0.0:1.0:0.0	.	303;303	Q6P3V5;Q99466	.;NOTC4_HUMAN	A	303	ENSP00000364163:P303A	ENSP00000364163:P303A	P	-	1	0	NOTCH4	32296526	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	3.906000	0.56340	2.380000	0.81148	0.491000	0.48974	CCA	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.582	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	G		-		32188548	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	SNP	1.000	C	C	32188548	G	C	32188548	3	2	232	1	0	0	0	0	1	0	0	0	10553	1232	43	4	5208	4	NOTCH4	6	32188548	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	1	32188548	138926519	32	18781	495	2									
DEFB113	245927	genome.wustl.edu	37	chr6	49936404	49936404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataatttatttttgatggaGtttactagtgattttgttaa	7	1	0	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr6:49936404G>A	ENST00000398718.1	-	2	234	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	79					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ttttGATGGAGTTTACTAGTG	0.279																																																	0								ENSG00000214642						39	35	36					6																	49936404		1777	4012	5789	DEFB113	SO:0001583	missense	0			-	HGNC	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"Defensins, beta"	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.235C>T	6.37:g.49936404G>A	ENSP00000381703:p.Leu79Phe	Somatic	0	37	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07		Missense_Mutation	SNP							NULL	p.L79F	ENST00000398718.1	37	c.235	CCDS43472.1	6	.	.	.	.	.	.	.	.	.	.	G	9.676	1.148044	0.21288	.	.	ENSG00000214642	ENST00000398718	.	.	.	3.62	-3.27	0.05048	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.23540	0.087	B	0.17098	0.017	T	0.35699	-0.9778	6	.	.	.	11.5886	0.4116	0.00442	0.2278:0.179:0.1949:0.3982	.	79	Q30KQ7	DB113_HUMAN	F	79	.	.	L	-	1	0	DEFB113	50044363	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.878000	0.01630	-0.791000	0.04486	-0.321000	0.08615	CTC	-	NULL		0.279	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	protein_coding	OTTHUMT00000359666.1	G		-		49936404	-1	no_errors	ENST00000398718	ensembl	human	known	74_37	missense	SNP	0.000	A	A	49936404	G	A	49936404	3	1	232	1	0	0	0	0	1	0	0	0	4404	1029	36	2	9	2	DEFB113	6	49936404	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	17747856	49936404	121178663	33	18782											
MANEA	79694	genome.wustl.edu	37	chr6	96034835	96034835	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatagaaactcacatgAgacaaatgcgctcagcttca	7	11	4	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr6:96034835A>T	ENST00000358812.4	+	2	654	c.520A>T	c.(520-522)Aga>Tga	p.R174*	MANEA_ENST00000369293.1_Nonsense_Mutation_p.R174*	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	174	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AACTCACATGAGACAAATGCG	0.363																																																	0								ENSG00000172469						68	71	70					6																	96034835		2170	4143	6313	MANEA	SO:0001587	stop_gained	0			-	HGNC	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.520A>T	6.37:g.96034835A>T	ENSP00000351669:p.Arg174*	Somatic	0	134	0		0.569485150938148	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	72	25.00	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Nonsense_Mutation	SNP							superfamily_Glycoside_hydrolase_SF	p.R174*	ENST00000358812.4	37	c.520	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	A	36	5.695015	0.96793	.	.	ENSG00000172469	ENST00000358812;ENST00000369293;ENST00000542500	.	.	.	5.66	5.66	0.87406	.	0.341334	0.37437	N	0.002097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-3.962	15.0823	0.72125	1.0:0.0:0.0:0.0	.	.	.	.	X	174	.	ENSP00000351669:R174X	R	+	1	2	MANEA	96141556	0.760000	0.28428	1.000000	0.80357	0.984000	0.73092	1.407000	0.34657	2.158000	0.67659	0.528000	0.53228	AGA	-	superfamily_Glycoside_hydrolase_SF		0.363	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	protein_coding	OTTHUMT00000043644.1	A	NM_024641	-		96034835	1	no_errors	ENST00000358812	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	96034835	A	T	96034835	4	4	232	1	0	0	0	0	0	1	0	0	9223	296	11	5	522	5	MANEA	6	96034835	Nonsense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	46098431	96034835	75080232	34	18783											
DNAH11	8701	genome.wustl.edu	37	chr7	21784177	21784177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaagattgtgatttgtTtcagagaagaatgctggaaa	10	3	1	4			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr7:21784177T>C	ENST00000409508.3	+	50	8307	c.8276T>C	c.(8275-8277)tTt>tCt	p.F2759S	DNAH11_ENST00000328843.6_Missense_Mutation_p.F2766S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2766					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						TGTGATTTGTTTCAGAGAAGA	0.373									Kartagener syndrome																																								0								ENSG00000105877						106	103	104					7																	21784177		1851	4103	5954	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.8276T>C	7.37:g.21784177T>C	ENSP00000475939:p.Phe2759Ser	Somatic	0	70	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	74	13.95	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F2766S	ENST00000409508.3	37	c.8297		7	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273007	0.80580	.	.	ENSG00000105877	ENST00000328843	T	0.42513	0.97	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	.	.	.	0.54753	D	0.999989	D	0.76494	0.999	D	0.85130	0.997	T	0.69558	-0.5113	9	0.87932	D	0	.	13.3502	0.60597	0.0:0.0:0.131:0.869	.	2766	Q96DT5	DYH11_HUMAN	S	2766	ENSP00000330671:F2766S	ENSP00000330671:F2766S	F	+	2	0	DNAH11	21750702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.504000	0.60414	2.254000	0.74563	0.533000	0.62120	TTT	-	superfamily_P-loop_NTPase		0.373	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	T	NM_003777	-		21784177	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	1.000	C	C	21784177	T	C	21784177	3	2	232	1	0	0	0	0	1	0	0	0	4601	1841	64	5	8496	5	DNAH11	7	21784177	Missense_Mutation	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09		21784177	137354486	35	18784											
DNAH11	8701	genome.wustl.edu	37	chr7	21788227	21788227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccggatcttacgaacccCtcagggctgtgctctcttgg	11	14	3	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr7:21788227C>A	ENST00000409508.3	+	52	8571	c.8540C>A	c.(8539-8541)cCt>cAt	p.P2847H	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2854H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2854	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						TTACGAACCCCTCAGGGCTGT	0.532									Kartagener syndrome																																								0								ENSG00000105877						57	58	58					7																	21788227		1953	4145	6098	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.8540C>A	7.37:g.21788227C>A	ENSP00000475939:p.Pro2847His	Somatic	0	51	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P2854H	ENST00000409508.3	37	c.8561		7	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154194	0.57259	.	.	ENSG00000105877	ENST00000328843	T	0.59224	0.28	6.06	6.06	0.98353	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.047910	0.85682	D	0.000000	T	0.76659	0.4018	.	.	.	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	T	0.78298	-0.2258	9	0.87932	D	0	.	15.7227	0.77724	0.0:0.9333:0.0:0.0667	.	2854	Q96DT5	DYH11_HUMAN	H	2854	ENSP00000330671:P2854H	ENSP00000330671:P2854H	P	+	2	0	DNAH11	21754752	0.373000	0.25073	0.555000	0.28281	0.056000	0.15407	3.184000	0.50926	2.879000	0.98667	0.650000	0.86243	CCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.532	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	C	NM_003777	-		21788227	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	0.972	A	A	21788227	C	A	21788227	3	1	232	1	0	0	0	0	1	0	0	0	4601	681	24	3	8768	3	DNAH11	7	21788227	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	4050	21788227	137350436	36	18785											
CDK13	8621	genome.wustl.edu	37	chr7	40127771	40127771	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttatggagtaaaaagcgaAgaagacagaagcagatgggc	14	4	0	4			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr7:40127771A>T	ENST00000181839.4	+	12	3681	c.3076A>T	c.(3076-3078)Aga>Tga	p.R1026*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.R1026*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1026					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAAAAAGCGAAGAAGACAGAA	0.398																																																	0								ENSG00000065883						86	85	85					7																	40127771		2203	4300	6503	CDK13	SO:0001587	stop_gained	0			-	HGNC	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3076A>T	7.37:g.40127771A>T	ENSP00000181839:p.Arg1026*	Somatic	0	36	0		0.569485150938148	20	16.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1026*	ENST00000181839.4	37	c.3076	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	A	42	9.577241	0.99210	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.56	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.2395	12.5813	0.56391	0.8616:0.1384:0.0:0.0	.	.	.	.	X	1026	.	.	R	+	1	2	CDK13	40094296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.760000	0.55235	2.250000	0.74265	0.477000	0.44152	AGA	-	superfamily_Kinase-like_dom		0.398	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	protein_coding	OTTHUMT00000250726.2	A	NM_003718	-		40127771	1	no_errors	ENST00000181839	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	40127771	A	T	40127771	4	4	232	1	0	0	0	0	0	1	0	0	3131	64	3	5	3122	5	CDK13	7	40127771	Nonsense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	18339544	40127771	119010892	37	18786											
ABCB1	5243	genome.wustl.edu	37	chr7	87174310	87174310	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaattcaacttcatttccTgctgtctaaaataaataaga	3	8	4	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr7:87174310T>G	ENST00000265724.3	-	17	2310	c.1893A>C	c.(1891-1893)gcA>gcC	p.A631A	ABCB1_ENST00000543898.1_Silent_p.A567A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	631					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTTCATTTCCTGCTGTCTAAA	0.333																																																	0								ENSG00000085563						58	55	56					7																	87174310		2203	4300	6503	ABCB1	SO:0001819	synonymous_variant	0			-	HGNC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1893A>C	7.37:g.87174310T>G		Somatic	0	42	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	A8K294|B5AK60|Q12755|Q14812	Silent	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A631	ENST00000265724.3	37	c.1893	CCDS5608.1	7																																																																																			-	NULL		0.333	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	protein_coding	OTTHUMT00000335444.2	T	NM_000927	-		87174310	-1	no_errors	ENST00000265724	ensembl	human	known	74_37	silent	SNP	0.089	G	G	87174310	T	G	87174310	2	3	232	1	0	0	0	0	0	0	0	1	40	1567	55	5		5	ABCB1	7	87174310	Silent	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	47046539	87174310	71964353	38	18787											
HYAL4	23553	genome.wustl.edu	37	chr7	123516947	123516947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagatgtggaacgcgcCcagttaccttcacttgaacc	10	11	1	2	rs141828412		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr7:123516947C>T	ENST00000223026.4	+	5	1822	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	HYAL4_ENST00000476325.1_Missense_Mutation_p.P395L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	395					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						TGGAACGCGCCCAGTTACCTT	0.512													C|||	1	0.000199681	0	0	5008	,	,		18488	0		0.001	False		,,,				2504	0																0								ENSG00000106302	C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	138	127	131		1184	4.9	0.1	7	dbSNP_134	131	6,8594	5.0+/-18.6	0,6,4294	yes	missense	HYAL4	NM_012269.2	98	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	benign	395/482	123516947	7,12999	2203	4300	6503	HYAL4	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.1184C>T	7.37:g.123516947C>T	ENSP00000223026:p.Pro395Leu	Somatic	0	112	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	122	9.56	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP							pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.P395L	ENST00000223026.4	37	c.1184	CCDS5789.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.161	-1.081417	0.01888	2.27E-4	6.98E-4	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.16597	2.33;2.33	5.86	4.93	0.64822	Epidermal growth factor-like (1);	0.466272	0.22016	N	0.065793	T	0.14056	0.0340	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.10268	-1.0637	10	0.23891	T	0.37	-7.0373	8.1482	0.31124	0.2692:0.6571:0.0:0.0737	.	395	Q2M3T9	HYAL4_HUMAN	L	395	ENSP00000223026:P395L;ENSP00000417186:P395L	ENSP00000223026:P395L	P	+	2	0	HYAL4	123304183	0.000000	0.05858	0.061000	0.19648	0.015000	0.08874	-0.143000	0.10296	2.937000	0.99478	0.650000	0.86243	CCC	-	pirsf_Hyaluronidase		0.512	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	protein_coding	OTTHUMT00000348545.1	C	NM_012269	rs141828412		123516947	1	no_errors	ENST00000223026	ensembl	human	known	74_37	missense	SNP	0.001	T	T	123516947	C	T	123516947	3	4	232	1	0	0	0	0	1	0	0	0	7468	623	22	2	1194	2	HYAL4	7	123516947	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	36342637	123516947	35621716	39	18788											
ZNF282	8427	genome.wustl.edu	37	chr7	148921432	148921432	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagatgacgcaccgcgGcgagcggccctacaagtgct	12	16	0	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr7:148921432G>T	ENST00000262085.3	+	8	1814	c.1709G>T	c.(1708-1710)gGc>gTc	p.G570V	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	570					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACGCACCGCGGCGAGCGGCCC	0.652																																																	0								ENSG00000170265						36	38	38					7																	148921432		2203	4300	6503	ZNF282	SO:0001583	missense	0			-	HGNC	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1709G>T	7.37:g.148921432G>T	ENSP00000262085:p.Gly570Val	Somatic	0	49	0		0.569485150938148	36	25	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G570V	ENST00000262085.3	37	c.1709	CCDS5895.1	7	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878403	0.51801	.	.	ENSG00000170265	ENST00000430197;ENST00000262085	T	0.23552	1.9	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000082	T	0.52597	0.1744	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.59337	-0.7473	10	0.87932	D	0	-7.8816	10.094	0.42464	0.0:0.2045:0.7955:0.0	.	570	Q9UDV7	ZN282_HUMAN	V	223;570	ENSP00000262085:G570V	ENSP00000262085:G570V	G	+	2	0	ZNF282	148552365	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.702000	0.54800	2.205000	0.71048	0.462000	0.41574	GGC	-	pfscan_Znf_C2H2		0.652	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF282	protein_coding	OTTHUMT00000352746.1	G	NM_003575	-		148921432	1	no_errors	ENST00000262085	ensembl	human	known	74_37	missense	SNP	1.000	T	T	148921432	G	T	148921432	3	4	232	1	0	0	0	0	1	0	0	0	17826	1203	42	3	1739	3	ZNF282	7	148921432	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	25404485	148921432	10217231	40	18789											
PDLIM2	64236	genome.wustl.edu	37	chr8	22447119	22447119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctgcagcatggactcgGaagggggaagcctcctcctg	13	14	0	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr8:22447119G>A	ENST00000397760.4	+	8	1028	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	PDLIM2_ENST00000397761.2_Missense_Mutation_p.E210K|PDLIM2_ENST00000409141.1_Missense_Mutation_p.E210K|PDLIM2_ENST00000265810.4_Missense_Mutation_p.E210K|PDLIM2_ENST00000448520.1_3'UTR|AC037459.4_ENST00000430850.2_Missense_Mutation_p.E4K|PDLIM2_ENST00000339162.7_Missense_Mutation_p.E210K|PDLIM2_ENST00000308354.7_Missense_Mutation_p.E460K|PDLIM2_ENST00000409417.1_Missense_Mutation_p.E210K			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	210						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CATGGACTCGGAAGGGGGAAG	0.657																																																	0								ENSG00000120913						19	18	19					8																	22447119		2200	4298	6498	PDLIM2	SO:0001583	missense	0			-	HGNC	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.628G>A	8.37:g.22447119G>A	ENSP00000380867:p.Glu210Lys	Somatic	0	107	0		0.569485150938148	99	42.11	72	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	59	35.87	D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP							pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E460K	ENST00000397760.4	37	c.1378		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.494948|4.494948	0.85069|0.85069	.|.	.|.	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235;ENSG00000248235|ENSG00000120913;ENSG00000248235	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000409141;ENST00000265810;ENST00000409417;ENST00000450780;ENST00000430850|ENST00000381194;ENST00000447849	T;T;T;T;T;T;T;T;T;T|.	0.32023|.	1.91;3.56;2.63;2.64;2.63;2.64;2.63;2.73;2.64;1.47|.	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	0.405035|.	0.21119|.	N|.	0.079857|.	T|T	0.50034|0.50034	0.1592|0.1592	L|L	0.51422|0.51422	1.61|1.61	0.25715|0.25715	N|N	0.985431|0.985431	D;B;P;D|.	0.89917|.	1.0;0.275;0.557;0.993|.	D;B;B;D|.	0.79108|.	0.992;0.037;0.217;0.968|.	T|T	0.40739|0.40739	-0.9547|-0.9547	10|5	0.14656|.	T|.	0.56|.	0.1693|0.1693	12.5755|12.5755	0.56362|0.56362	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;210;210;210|.	B3KPU0;Q96JY6-3;Q96JY6-4;Q96JY6|.	.;.;.;PDLI2_HUMAN|.	K|E	210;460;210;210;210;210;210;210;210;38;4|183;21	ENSP00000401992:E210K;ENSP00000312634:E460K;ENSP00000394376:E210K;ENSP00000380867:E210K;ENSP00000342035:E210K;ENSP00000380868:E210K;ENSP00000386868:E210K;ENSP00000265810:E210K;ENSP00000387084:E210K;ENSP00000428700:E4K|.	ENSP00000428700:E4K|.	E|G	+|+	1|2	0|0	AC037459.4;PDLIM2|AC037459.4;PDLIM2	22503064|22503064	0.841000|0.841000	0.29509|0.29509	0.055000|0.055000	0.19348|0.19348	0.014000|0.014000	0.08584|0.08584	4.575000|4.575000	0.60908|0.60908	1.729000|1.729000	0.51567|0.51567	0.558000|0.558000	0.71614|0.71614	GAA|GGA	-	NULL		0.657	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	protein_coding	OTTHUMT00000334167.1	G		-		22447119	1	no_errors	ENST00000308354	ensembl	human	known	74_37	missense	SNP	0.704	A	A	22447119	G	A	22447119	3	1	232	1	0	0	0	0	1	0	0	0	11682	1175	41	2	654	2	PDLIM2	8	22447119	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09		22447119	123916903	41	18790											
RHOBTB2	23221	genome.wustl.edu	37	chr8	22874836	22874836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaagatcattaccagCgggcacggaaggagcgtgag	17	7	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr8:22874836C>T	ENST00000251822.6	+	10	2575	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R702W|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R687W	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	680					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCATTACCAGCGGGCACGGAA	0.572																																																	0								ENSG00000008853						144	115	125					8																	22874836		2203	4300	6503	RHOBTB2	SO:0001583	missense	0			-	HGNC	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.2038C>T	8.37:g.22874836C>T	ENSP00000251822:p.Arg680Trp	Somatic	0	27	0		0.569485150938148	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.R680W	ENST00000251822.6	37	c.2038	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	c	19.66	3.869850	0.72065	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.11495	2.77;2.78;2.78	5.66	-1.25	0.09405	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.79475	2.455	0.49389	D	0.999787	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.36407	-0.9749	10	0.87932	D	0	.	17.4539	0.87602	0.761:0.239:0.0:0.0	.	687;680;702	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	W	702;687;680	ENSP00000427926:R702W;ENSP00000429141:R687W;ENSP00000251822:R680W	ENSP00000251822:R680W	R	+	1	2	RHOBTB2	22930781	0.999000	0.42202	0.976000	0.42696	0.958000	0.62258	0.740000	0.26188	-0.212000	0.10109	-0.181000	0.13052	CGG	-	NULL		0.572	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	protein_coding	OTTHUMT00000215101.2	C		-		22874836	1	no_errors	ENST00000251822	ensembl	human	known	74_37	missense	SNP	0.962	T	T	22874836	C	T	22874836	3	4	232	1	0	0	0	0	1	0	0	0	13342	759	27	1	2157	1	RHOBTB2	8	22874836	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	427717	22874836	123489186	42	18791											
FOXH1	8928	genome.wustl.edu	37	chr8	145700634	145700634	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggaacacggcctggaccTgacggatgatctgaaaccgc	14	11	1	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr8:145700634T>G	ENST00000377317.4	-	2	763	c.185A>C	c.(184-186)cAg>cCg	p.Q62P	FOXH1_ENST00000525197.1_Intron	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	62					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCCTGGACCTGACGGATGAT	0.667																																																	0								ENSG00000160973						30	31	31					8																	145700634		2202	4298	6500	FOXH1	SO:0001583	missense	0			-	HGNC	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.185A>C	8.37:g.145700634T>G	ENSP00000366534:p.Gln62Pro	Somatic	0	128	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	137	19.77	D3DWM4	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q62P	ENST00000377317.4	37	c.185	CCDS6428.1	8	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864347	0.71949	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.95412	-3.7	5.31	4.16	0.48862	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.128822	0.50627	D	0.000104	D	0.94029	0.8087	N	0.22421	0.69	0.41726	D	0.989539	D	0.71674	0.998	D	0.66351	0.943	D	0.92360	0.5896	10	0.35671	T	0.21	-46.6183	8.6225	0.33870	0.0:0.0906:0.0:0.9094	.	62	O75593	FOXH1_HUMAN	P	62;89	ENSP00000366534:Q62P	ENSP00000292541:Q89P	Q	-	2	0	FOXH1	145671442	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.735000	0.74806	2.010000	0.58986	0.460000	0.39030	CAG	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.667	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXH1	protein_coding	OTTHUMT00000382451.1	T		-		145700634	-1	no_errors	ENST00000377317	ensembl	human	known	74_37	missense	SNP	0.999	G	G	145700634	T	G	145700634	3	3	232	1	0	0	0	0	1	0	0	0	6010	1580	55	5	920	5	FOXH1	8	145700634	Missense_Mutation	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	122825798	145700634	663388	43	18792											
INVS	27130	genome.wustl.edu	37	chr9	103055210	103055249	+	Frame_Shift_Del	DEL	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	-													tctctgggcagagtgtgaatAttgaccttctccccgtagag					rs371932940|rs142177132|rs200844390|rs114847355	byFrequency	TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr9:103055210_103055249delATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	ENST00000262457.2	+	14	2856_2895	c.2671_2710delATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	c.(2671-2712)attgaccttctccccgtagagctccgactgcagataattcagfs	p.IDLLPVELRLQIIQ891fs	INVS_ENST00000541287.1_Frame_Shift_Del_p.IDLLPVELRLQIIQ795fs|INVS_ENST00000262456.2_Splice_Site_p.IDLLPVEL727fs	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	891					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGTGTGAATATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTCAGAGAGAACG	0.546																																																	0			GRCh37	CM032002	INVS	M		ENSG00000119509																																			INVS	SO:0001589	frameshift_variant	0				HGNC	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2671_2710delATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	9.37:g.103055210_103055249delATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	ENSP00000262457:p.Ile891fs	Somatic					0.569485150938148	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Frame_Shift_Del	DEL							pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.I891fs	ENST00000262457.2	37	c.2671_2710	CCDS6746.1	9																																																																																			-	NULL		0.546	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	protein_coding	OTTHUMT00000053407.1	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	NM_014425			103055249	1	no_errors	ENST00000262457	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.995:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.746:0.872:0.907:0.908:0.996:1.000:1.000:0.999:0.991:0.976:0.991:0.985:0.643:0.990:0.996:0.994:0.995:0.994:1.000:1.000:1.000:0.995:1.000:1.000:1.000:1.000	-	-	103055249	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	-	103055210	7	5	232	1	0	1	0	1	0	0	0	0	7789	449	16	0	2721	0	INVS	9	103055210	Frame_Shift_Del	DEL	ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC	TCGA-X6-A7WC-01A-12D-A351-09		103055210	38158221	44	18793											
AKAP2	11217	genome.wustl.edu	37	chr9	112930757	112930757	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagggatctatgccaaccagGaggaagaagacaacgaataa	11	8	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr9:112930757G>T	ENST00000259318.7	+	4	2767	c.2560G>T	c.(2560-2562)Gag>Tag	p.E854*	AKAP2_ENST00000510514.5_Nonsense_Mutation_p.E1085*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.E956*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.E1085*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.E1098*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.E1098*|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.E943*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	854										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCAACCAGGAGGAAGAAGA	0.468																																																	0								ENSG00000157654						87	85	86					9																	112930757		2203	4300	6503	PALM2-AKAP2	SO:0001587	stop_gained	0			-	HGNC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2560G>T	9.37:g.112930757G>T	ENSP00000259318:p.Glu854*	Somatic	0	67	0		0.569485150938148	67	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP							pfam_Paralemmin,pfam_RII_binding_1	p.E1098*	ENST00000259318.7	37	c.3292	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	41	8.587548	0.98875	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.48511	D	0.999667	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.8629	18.385	0.90464	0.0:0.0:1.0:0.0	.	.	.	.	X	1098;1085;1098;1085;956;943;854	.	ENSP00000259318:E854X	E	+	1	0	PALM2-AKAP2;AKAP2	111970578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.519000	0.81809	2.565000	0.86533	0.655000	0.94253	GAG	-	NULL		0.468	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	protein_coding	OTTHUMT00000346067.3	G	NM_001004065	-		112930757	1	no_errors	ENST00000374530	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	112930757	G	T	112930757	4	4	232	1	0	0	0	0	0	1	0	0	451	1175	41	3	2841	3	AKAP2	9	112930757	Nonsense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	9875547	112930757	28282674	45	18794											
SLC25A25	114789	genome.wustl.edu	37	chr9	130863607	130863607	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggacgcattgacgcgcaggaGatcatgcagtccctgcggga	15	11	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr9:130863607G>C	ENST00000373064.5	+	3	569	c.306G>C	c.(304-306)gaG>gaC	p.E102D	SLC25A25_ENST00000373066.5_Missense_Mutation_p.E122D|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373069.5_Missense_Mutation_p.E136D|SLC25A25_ENST00000373068.2_Missense_Mutation_p.E136D|SLC25A25_ENST00000432073.2_Missense_Mutation_p.E122D	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	102	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						ACGCGCAGGAGATCATGCAGT	0.582																																																	0								ENSG00000148339						56	62	60					9																	130863607		2203	4300	6503	SLC25A25	SO:0001583	missense	0			-	HGNC	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.306G>C	9.37:g.130863607G>C	ENSP00000362155:p.Glu102Asp	Somatic	0	70	0		0.569485150938148	15	31.82	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.E136D	ENST00000373064.5	37	c.408	CCDS6890.1	9	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978362	0.53720	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.25	3.41	0.39046	EF-hand-like domain (1);	0.096994	0.64402	D	0.000001	T	0.79673	0.4486	M	0.86502	2.82	0.80722	D	1	B;B;P;B	0.36065	0.26;0.334;0.535;0.106	B;B;B;B	0.43508	0.319;0.309;0.422;0.16	T	0.79831	-0.1637	10	0.45353	T	0.12	-20.4685	10.583	0.45267	0.1562:0.0:0.8438:0.0	.	102;122;122;136	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	D	136;136;122;122;102	ENSP00000362159:E136D;ENSP00000362160:E136D;ENSP00000410053:E122D;ENSP00000362157:E122D;ENSP00000362155:E102D	ENSP00000362155:E102D	E	+	3	2	SLC25A25	129903428	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	1.496000	0.35638	1.212000	0.43366	0.456000	0.33151	GAG	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.582	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	protein_coding	OTTHUMT00000054407.1	G	NM_052901	-		130863607	1	no_errors	ENST00000373069	ensembl	human	known	74_37	missense	SNP	1.000	C	C	130863607	G	C	130863607	3	2	232	1	0	0	0	0	1	0	0	0	14496	933	33	4	804	4	SLC25A25	9	130863607	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	17932850	130863607	10349824	46	18795											
BLNK	29760	genome.wustl.edu	37	chr10	97956691	97956691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttttctttctgcccaaGgcatattgttttgttgcttc	6	10	2	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr10:97956691G>A	ENST00000224337.5	-	16	1365	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	BLNK_ENST00000413476.2_Intron|BLNK_ENST00000371176.2_Silent_p.A385A|BLNK_ENST00000427367.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	408	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTCTGCCCAAGGCATATTGTT	0.313																																																	0								ENSG00000095585						101	106	104					10																	97956691		2203	4299	6502	BLNK	SO:0001819	synonymous_variant	0			-	HGNC	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1224C>T	10.37:g.97956691G>A		Somatic	0	42	0		0.569485150938148	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	O75498|O75499|Q2MD49	Silent	SNP							pfam_SH2,smart_SH2,pfscan_SH2	p.A408	ENST00000224337.5	37	c.1224	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672230	0.14776	.	.	ENSG00000095585	ENST00000393889	.	.	.	5.21	1.49	0.22878	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54207	-0.8328	5	0.87932	D	0	-13.194	2.652	0.05002	0.4942:0.2877:0.0794:0.1386	.	.	.	.	L	134	.	ENSP00000377467:P134L	P	-	2	0	BLNK	97946681	0.998000	0.40836	1.000000	0.80357	0.916000	0.54674	0.426000	0.21363	0.051000	0.15978	-1.261000	0.01458	CCT	-	pfam_SH2,smart_SH2,pfscan_SH2		0.313	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	protein_coding	OTTHUMT00000049593.1	G	NM_013314	-		97956691	-1	no_errors	ENST00000224337	ensembl	human	known	74_37	silent	SNP	1.000	A	A	97956691	G	A	97956691	2	1	232	1	0	0	0	0	0	0	0	1	1447	987	35	2		2	BLNK	10	97956691	Silent	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09		97956691	37578056	47	18796											
DUSP5	1847	genome.wustl.edu	37	chr10	112270097	112270097	+	Frame_Shift_Del	DEL	C	C	-													cagggtgcctactgcacattCcctgcctcggtgctggcacc					rs565671192	byFrequency	TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr10:112270097delC	ENST00000369583.3	+	4	1352	c.1068delC	c.(1066-1068)ttcfs	p.F356fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	356	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ACTGCACATTCCCTGCCTCGG	0.607																																																	0								ENSG00000138166						28	27	27					10																	112270097		2203	4300	6503	DUSP5	SO:0001589	frameshift_variant	0				HGNC	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.1068delC	10.37:g.112270097delC	ENSP00000358596:p.Phe356fs	Somatic	0	27	0		0.569485150938148	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q12997|Q5T603	Frame_Shift_Del	DEL							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.P357fs	ENST00000369583.3	37	c.1068	CCDS7566.1	10																																																																																			-	pirsf_MKP		0.607	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	protein_coding	OTTHUMT00000050333.1	C	NM_004419			112270097	1	no_errors	ENST00000369583	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	112270097	C	-	112270097	7	5	232	1	0	1	0	1	0	0	0	0	4830	854	30	0	1082	0	DUSP5	10	112270097	Frame_Shift_Del	DEL	C	TCGA-X6-A7WC-01A-12D-A351-09	14313406	112270097	23264650	48	18797											
RBMXL2	27288	genome.wustl.edu	37	chr11	7110702	7110702	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccgcgggggtggcggcggCccgcggcgttccccatcccg	17	18	0	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr11:7110702C>A	ENST00000306904.5	+	1	538	c.351C>A	c.(349-351)ggC>ggA	p.G117G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	117	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		gtggcggcggcccgcggcgTT	0.771																																																	0								ENSG00000170748						1	1	1					11																	7110702		513	1196	1709	RBMXL2	SO:0001819	synonymous_variant	0			-	HGNC	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.351C>A	11.37:g.7110702C>A		Somatic	0	16	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q6PEZ2|Q9NQU0	Silent	SNP							pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G117	ENST00000306904.5	37	c.351	CCDS7777.1	11																																																																																			-	NULL		0.771	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	protein_coding	OTTHUMT00000384552.1	C	NM_014469	-		7110702	1	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	SNP	0.716	A	A	7110702	C	A	7110702	2	1	232	1	0	0	0	0	0	0	0	1	13162	726	26	3		3	RBMXL2	11	7110702	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		7110702	127895814	49	18798											
WEE1	7465	genome.wustl.edu	37	chr11	9606871	9606871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagacgaagatgattGggcatccaacaaagttatgt	12	5	0	4			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr11:9606871G>T	ENST00000450114.2	+	7	1608	c.1355G>T	c.(1354-1356)tGg>tTg	p.W452L	WEE1_ENST00000299613.6_Missense_Mutation_p.W238L	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	452	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		GAAGATGATTGGGCATCCAAC	0.348																																																	0								ENSG00000166483						121	129	127					11																	9606871		2201	4294	6495	WEE1	SO:0001583	missense	0			-	HGNC	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.1355G>T	11.37:g.9606871G>T	ENSP00000402084:p.Trp452Leu	Somatic	0	66	0		0.569485150938148	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B3KVE1|D3DQV0	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	p.W452L	ENST00000450114.2	37	c.1355	CCDS7800.1	11	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738571	0.15642	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000524612;ENST00000530712	T;T;T;T	0.51325	0.84;0.71;1.33;1.92	4.93	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.234232	0.36519	N	0.002548	T	0.24624	0.0597	N	0.04297	-0.235	0.80722	D	1	B	0.09022	0.002	B	0.20577	0.03	T	0.05716	-1.0868	10	0.11485	T	0.65	-4.9212	13.1646	0.59562	0.0:0.0:0.8398:0.1602	.	452	P30291	WEE1_HUMAN	L	452;238;80;58	ENSP00000402084:W452L;ENSP00000299613:W238L;ENSP00000434446:W80L;ENSP00000434148:W58L	ENSP00000299613:W238L	W	+	2	0	WEE1	9563447	1.000000	0.71417	0.935000	0.37517	0.830000	0.47004	2.254000	0.43214	1.191000	0.43056	-0.293000	0.09583	TGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom		0.348	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	protein_coding	OTTHUMT00000386757.1	G	NM_003390	-		9606871	1	no_errors	ENST00000450114	ensembl	human	known	74_37	missense	SNP	0.987	T	T	9606871	G	T	9606871	3	4	232	1	0	0	0	0	1	0	0	0	17351	1357	47	3	1381	3	WEE1	11	9606871	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	2496169	9606871	125399645	50	18799											
OR5T2	219464	genome.wustl.edu	37	chr11	56000184	56000184	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtagatggctacatagcgatCataagccattgcagccaaga	10	9	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr11:56000184C>A	ENST00000313264.4	-	1	553	c.478G>T	c.(478-480)Gat>Tat	p.D160Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D160N(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACATAGCGATCATAAGCCATT	0.428																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000181718						188	158	168					11																	56000184		2201	4294	6495	OR5T2	SO:0001583	missense	0			-	HGNC	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.478G>T	11.37:g.56000184C>A	ENSP00000323688:p.Asp160Tyr	Somatic	0	64	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	B9EGX5|Q6IFC8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D160Y	ENST00000313264.4	37	c.478	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639692	0.87760	.	.	ENSG00000181718	ENST00000313264	T	0.02140	4.43	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	U	0.000602	T	0.24236	0.0587	H	0.97732	4.065	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.46119	-0.9214	10	0.87932	D	0	.	18.4134	0.90559	0.0:1.0:0.0:0.0	.	160	Q8NGG2	OR5T2_HUMAN	Y	160	ENSP00000323688:D160Y	ENSP00000323688:D160Y	D	-	1	0	OR5T2	55756760	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.184000	0.77705	2.520000	0.84964	0.471000	0.43371	GAT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	protein_coding	OTTHUMT00000391598.1	C	NM_001004746	-		56000184	-1	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56000184	C	A	56000184	3	1	232	1	0	0	0	0	1	0	0	0	11184	826	29	3	600	3	OR5T2	11	56000184	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	46393313	56000184	79006332	51	18800											
OR5AP2	338675	genome.wustl.edu	37	chr11	56409257	56409257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacaggtaggaaatgaggAcaatcataacacagctgatg	10	7	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr11:56409257A>G	ENST00000302981.1	-	1	658	c.659T>C	c.(658-660)gTc>gCc	p.V220A	OR5AP2_ENST00000544374.1_Missense_Mutation_p.V221A	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	220						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(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GGAAATGAGGACAATCATAAC	0.473																																																	0								ENSG00000172464						200	189	193					11																	56409257		2201	4296	6497	OR5AP2	SO:0001583	missense	0			-	HGNC	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.659T>C	11.37:g.56409257A>G	ENSP00000303111:p.Val220Ala	Somatic	0	60	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64	B2RNM8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V221A	ENST00000302981.1	37	c.662	CCDS31534.1	11	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541993	0.65198	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00198	8.57;8.57	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.314247	0.22891	N	0.054381	T	0.00440	0.0014	M	0.88310	2.945	0.09310	N	1	P	0.48294	0.908	P	0.51055	0.657	T	0.30060	-0.9991	10	0.87932	D	0	.	10.2353	0.43280	0.9208:0.0:0.0792:0.0	.	220	Q8NGF4	O5AP2_HUMAN	A	221;220	ENSP00000442701:V221A;ENSP00000303111:V220A	ENSP00000303111:V220A	V	-	2	0	OR5AP2	56165833	0.072000	0.21174	0.871000	0.34182	0.882000	0.50991	3.655000	0.54460	2.153000	0.67306	0.519000	0.50382	GTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	protein_coding	OTTHUMT00000391613.1	A	NM_001002925	-		56409257	-1	no_errors	ENST00000544374	ensembl	human	known	74_37	missense	SNP	0.102	G	G	56409257	A	G	56409257	3	3	232	1	0	0	0	0	1	0	0	0	11146	275	10	5	295	5	OR5AP2	11	56409257	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	409073	56409257	78597259	52	18801											
OR1S2	219958	genome.wustl.edu	37	chr11	57971208	57971208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgccgaacctggcccgcAtgaaagttgtatagttcaga	11	9	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr11:57971208A>C	ENST00000302592.6	-	1	445	c.446T>G	c.(445-447)aTg>aGg	p.M149R		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCTGGCCCGCATGAAAGTTGT	0.463																																																	0								ENSG00000197887						158	150	152					11																	57971208		2201	4296	6497	OR1S2	SO:0001583	missense	0			-	HGNC	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.446T>G	11.37:g.57971208A>C	ENSP00000305469:p.Met149Arg	Somatic	0	89	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	Q6IFG5|Q96R85	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M149R	ENST00000302592.6	37	c.446	CCDS31545.1	11	.	.	.	.	.	.	.	.	.	.	A	14.68	2.609133	0.46527	.	.	ENSG00000197887	ENST00000302592	T	0.00601	6.29	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.05960	0.0155	H	0.99391	4.545	0.45733	D	0.998638	D	0.69078	0.997	P	0.62184	0.899	T	0.01093	-1.1454	10	0.87932	D	0	.	13.0257	0.58814	1.0:0.0:0.0:0.0	.	149	Q8NGQ3	OR1S2_HUMAN	R	149	ENSP00000305469:M149R	ENSP00000305469:M149R	M	-	2	0	OR1S2	57727784	1.000000	0.71417	0.860000	0.33809	0.023000	0.10783	8.482000	0.90439	2.009000	0.58944	0.533000	0.62120	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	protein_coding	OTTHUMT00000394703.2	A	NM_001004459	-		57971208	-1	no_errors	ENST00000302592	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57971208	A	C	57971208	3	2	232	1	0	0	0	0	1	0	0	0	10975	217	8	5	534	5	OR1S2	11	57971208	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	1561951	57971208	77035308	53	18802											
CDCA3	83461	genome.wustl.edu	37	chr12	6959716	6959716	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatgtttaagaccctcCagttgctcccctgctggtag	11	12	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr12:6959716C>A	ENST00000538862.2	-	3	1066	c.165G>T	c.(163-165)ctG>ctT	p.L55L	CDCA3_ENST00000540683.1_Silent_p.L55L|CDCA3_ENST00000422785.3_Silent_p.L55L|CDCA3_ENST00000535406.1_Silent_p.L55L|CDCA3_ENST00000604599.1_5'Flank|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000229265.6_Silent_p.L55L|USP5_ENST00000229268.8_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	55					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TAAGACCCTCCAGTTGCTCCC	0.572																																																	0								ENSG00000111665						137	128	131					12																	6959716		2203	4300	6503	CDCA3	SO:0001819	synonymous_variant	0			-	HGNC	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.165G>T	12.37:g.6959716C>A		Somatic	0	60	0		0.569485150938148	45	22.41	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	A8K5V6|D3DUS6	Silent	SNP							NULL	p.L55	ENST00000538862.2	37	c.165	CCDS8565.1	12																																																																																			-	NULL		0.572	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA3	protein_coding	OTTHUMT00000401940.2	C	NM_031299	-		6959716	-1	no_errors	ENST00000538862	ensembl	human	known	74_37	silent	SNP	0.002	A	A	6959716	C	A	6959716	2	1	232	1	0	0	0	0	0	0	0	1	3089	581	21	3		3	CDCA3	12	6959716	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		6959716	126892179	54	18803											
C12orf64	283310	genome.wustl.edu	37	chr12	80770909	80770909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatattttatcaggcaaacGagaagaaagaatatgccaga	8	5	1	4			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr12:80770909G>A	ENST00000547103.1	+	57	6731	c.6725G>A	c.(6724-6726)cGa>cAa	p.R2242Q	OTOGL_ENST00000546620.1_Missense_Mutation_p.R273Q|OTOGL_ENST00000458043.2_Missense_Mutation_p.R2254Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2242	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCAGGCAAACGAGAAGAAAGA	0.303																																																	0								ENSG00000165899						66	68	67					12																	80770909		2203	4300	6503	OTOGL	SO:0001583	missense	0			-	HGNC	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6725G>A	12.37:g.80770909G>A	ENSP00000447211:p.Arg2242Gln	Somatic	0	154	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	103	30.41	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.R2254Q	ENST00000547103.1	37	c.6761		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.279024|4.279024	0.80692|0.80692	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620	.|T;T;T	.|0.16196	.|2.48;2.48;2.36	5.32|5.32	3.46|3.46	0.39613|0.39613	.|Cystine knot, C-terminal (1);	.|0.564956	.|0.16688	.|N	.|0.203643	T|T	0.15219|0.15219	0.0367|0.0367	L|L	0.54323|0.54323	1.7|1.7	0.23661|0.23661	N|N	0.997179|0.997179	.|D	.|0.53312	.|0.959	.|B	.|0.39617	.|0.305	T|T	0.13495|0.13495	-1.0507|-1.0507	5|10	.|0.41790	.|T	.|0.15	.|.	8.9246|8.9246	0.35632|0.35632	0.29:0.0:0.71:0.0|0.29:0.0:0.71:0.0	.|.	.|619	.|Q3ZCN5	.|OTOGL_HUMAN	K|Q	662|2242;2254;273	.|ENSP00000447211:R2242Q;ENSP00000400895:R2254Q;ENSP00000449094:R273Q	.|ENSP00000400895:R2254Q	E|R	+|+	1|2	0|0	OTOGL|OTOGL	79295040|79295040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.434000|2.434000	0.44802|0.44802	1.364000|1.364000	0.46038|0.46038	0.467000|0.467000	0.42956|0.42956	GAG|CGA	-	pfscan_Cys_knot_C		0.303	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	G	NM_173591	-		80770909	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	SNP	1.000	A	A	80770909	G	A	80770909	3	1	232	1	0	0	0	0	1	0	0	0	1709	1058	37	1	6987	1	C12orf64	12	80770909	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	73811193	80770909	53080986	55	18804											
RPH3A	22895	genome.wustl.edu	37	chr12	113307826	113307826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggggtgctggagacTccagccggagcccagcaggt	17	11	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr12:113307826T>C	ENST00000389385.4	+	10	1275	c.778T>C	c.(778-780)Tcc>Ccc	p.S260P	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.S256P|RPH3A_ENST00000420983.2_Missense_Mutation_p.S260P|RPH3A_ENST00000548866.1_Missense_Mutation_p.S211P|RPH3A_ENST00000415485.3_Missense_Mutation_p.S260P|RPH3A_ENST00000543106.2_Missense_Mutation_p.S260P|RPH3A_ENST00000447659.2_Missense_Mutation_p.S211P	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	260	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGCTGGAGACTCCAGCCGGAG	0.552																																																	0								ENSG00000089169						30	36	34					12																	113307826		2203	4300	6503	RPH3A	SO:0001583	missense	0			-	HGNC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.778T>C	12.37:g.113307826T>C	ENSP00000374036:p.Ser260Pro	Somatic	0	34	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	B7Z3C3|Q96AE0	Missense_Mutation	SNP							pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.S260P	ENST00000389385.4	37	c.778	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767189	0.31320	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.62232	0.08;0.08;0.05;0.08;0.08;0.04;0.08	5.55	-1.7	0.08159	.	0.851661	0.10142	N	0.710697	T	0.47801	0.1465	L	0.38175	1.15	0.25285	N	0.989409	B;B;B;B	0.26258	0.0;0.09;0.09;0.145	B;B;B;B	0.34779	0.0;0.063;0.063;0.189	T	0.48091	-0.9065	10	0.46703	T	0.11	.	1.7996	0.03068	0.2063:0.0965:0.3835:0.3137	.	211;260;260;256	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	P	260;260;211;256;260;211;260	ENSP00000440384:S260P;ENSP00000374036:S260P;ENSP00000413254:S211P;ENSP00000448297:S256P;ENSP00000405357:S260P;ENSP00000450347:S211P;ENSP00000408889:S260P	ENSP00000374036:S260P	S	+	1	0	RPH3A	111792209	0.011000	0.17503	0.836000	0.33094	0.726000	0.41606	-0.350000	0.07721	-0.131000	0.11578	0.523000	0.50628	TCC	-	NULL		0.552	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	protein_coding	OTTHUMT00000405561.1	T	NM_014954	-		113307826	1	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	SNP	0.997	C	C	113307826	T	C	113307826	3	2	232	1	0	0	0	0	1	0	0	0	13559	1551	54	5	808	5	RPH3A	12	113307826	Missense_Mutation	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	32536917	113307826	20544069	56	18805											
NOS1	4842	genome.wustl.edu	37	chr12	117768198	117768198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgccttggcaggtgccCctcccttgacccctctgctc	8	19	2	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr12:117768198C>T	ENST00000338101.4	-	1	681	c.677G>A	c.(676-678)gGg>gAg	p.G226E	NOS1_ENST00000317775.6_Missense_Mutation_p.G226E|NOS1_ENST00000344089.3_Missense_Mutation_p.G226E|NOS1_ENST00000549189.1_5'Flank			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)			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)		GGCAGGTGCCCCTCCCTTGAC	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						110	120	117					12																	117768198		2073	4211	6284	NOS1	SO:0001583	missense	0			-	HGNC		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.677G>A	12.37:g.117768198C>T	ENSP00000337459:p.Gly226Glu	Somatic	0	32	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35		Missense_Mutation	SNP							pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.G226E	ENST00000338101.4	37	c.677	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912005	0.17907	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.04454	5.17;3.62;5.2	4.65	2.75	0.32379	.	0.299368	0.38005	N	0.001844	T	0.02649	0.0080	L	0.31207	0.915	0.36515	D	0.869812	B	0.09022	0.002	B	0.11329	0.006	T	0.38908	-0.9639	10	0.02654	T	1	-11.2822	3.094	0.06303	0.4263:0.3909:0.0:0.1828	.	226	P29475	NOS1_HUMAN	E	226	ENSP00000320758:G226E;ENSP00000339862:G226E;ENSP00000337459:G226E	ENSP00000320758:G226E	G	-	2	0	NOS1	116252581	0.988000	0.35896	0.005000	0.12908	0.856000	0.48823	2.319000	0.43788	0.526000	0.28541	0.484000	0.47621	GGG	-	pirsf_NOS_euk		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	C		-		117768198	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	0.926	T	T	117768198	C	T	117768198	3	4	232	1	0	0	0	0	1	0	0	0	10543	623	22	2	3739	2	NOS1	12	117768198	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	4460372	117768198	16083697	57	18806											
ATP12A	479	genome.wustl.edu	37	chr13	25283514	25283514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctagatcccctccattGccttggcgtacgagaaagct	8	15	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr13:25283514G>T	ENST00000381946.3	+	18	2673	c.2506G>T	c.(2506-2508)Gcc>Tcc	p.A836S	ATP12A_ENST00000218548.6_Missense_Mutation_p.A842S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	836					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCCTCCATTGCCTTGGCGTA	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)												0								ENSG00000075673						87	82	84					13																	25283514		2203	4300	6503	ATP12A	SO:0001583	missense	0			-	HGNC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2506G>T	13.37:g.25283514G>T	ENSP00000371372:p.Ala836Ser	Somatic	1	132	0.75		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	85	27.12	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.A842S	ENST00000381946.3	37	c.2524	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	1.460	-0.562683	0.03939	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97186	-4.28;-4.28	5.92	5.92	0.95590	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.070452	0.64402	D	0.000013	D	0.88573	0.6473	N	0.02985	-0.445	0.53005	D	0.999964	B;P	0.38300	0.099;0.626	B;B	0.36092	0.108;0.217	D	0.89322	0.3641	10	0.02654	T	1	.	12.7114	0.57092	0.0:0.0:0.8356:0.1644	.	842;836	P54707-2;P54707	.;AT12A_HUMAN	S	842;836	ENSP00000218548:A842S;ENSP00000371372:A836S	ENSP00000218548:A842S	A	+	1	0	ATP12A	24181514	1.000000	0.71417	0.987000	0.45799	0.052000	0.14988	5.842000	0.69417	2.795000	0.96236	0.655000	0.94253	GCC	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	G	NM_001676	-		25283514	1	no_errors	ENST00000218548	ensembl	human	known	74_37	missense	SNP	1.000	T	T	25283514	G	T	25283514	3	4	232	1	0	0	0	0	1	0	0	0	1122	1319	46	3	2594	3	ATP12A	13	25283514	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09		25283514	89886364	58	18807											
KIAA1704	55425	genome.wustl.edu	37	chr13	45589177	45589177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacgacagagtttgaaaaaAgggcccagagaatgaaagaa	11	5	0	5			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr13:45589177A>G	ENST00000379151.4	+	5	602	c.499A>G	c.(499-501)Agg>Ggg	p.R167G	GPALPP1_ENST00000361121.2_Missense_Mutation_p.R167G|GPALPP1_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	167																	GTTTGAAAAAAGGGCCCAGAG	0.318																																																	0								ENSG00000133114						63	65	64					13																	45589177		2203	4300	6503	GPALPP1	SO:0001583	missense	0			-	HGNC	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.499A>G	13.37:g.45589177A>G	ENSP00000368447:p.Arg167Gly	Somatic	0	64	0		0.569485150938148	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP							pfam_DUF3752	p.R167G	ENST00000379151.4	37	c.499	CCDS9394.1	13	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683820	0.68157	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.57	3.03	0.35002	.	0.090691	0.85682	D	0.000000	T	0.78830	0.4345	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.78783	-0.2069	9	0.49607	T	0.09	-0.4172	11.9741	0.53081	0.7249:0.2751:0.0:0.0	.	18;167	Q8IXQ4-2;Q8IXQ4	.;K1704_HUMAN	G	167	.	ENSP00000355211:R167G	R	+	1	2	KIAA1704	44487177	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.432000	0.52824	0.437000	0.26423	0.528000	0.53228	AGG	-	NULL		0.318	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	protein_coding	OTTHUMT00000044749.2	A	NM_018559	-		45589177	1	no_errors	ENST00000361121	ensembl	human	known	74_37	missense	SNP	1.000	G	G	45589177	A	G	45589177	3	3	232	1	0	0	0	0	1	0	0	0	8254	63	3	5	517	5	KIAA1704	13	45589177	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	20305663	45589177	69580701	59	18808											
PCDH9	5101	genome.wustl.edu	37	chr13	66879148	66879148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctaatcctcggggaCccaaaggcccatctgcagaa	9	14	2	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr13:66879148C>A	ENST00000377865.2	-	4	3487	c.3353G>T	c.(3352-3354)gGt>gTt	p.G1118V	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1084V|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1118V|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1084V			Q9HC56	PCDH9_HUMAN	protocadherin 9	1118					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1118V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCCTCGGGGACCCAAAGGCCC	0.408																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000184226						39	38	38					13																	66879148		2203	4300	6503	PCDH9	SO:0001583	missense	0			-	HGNC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3353G>T	13.37:g.66879148C>A	ENSP00000367096:p.Gly1118Val	Somatic	0	33	0		0.569485150938148	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP							pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1118V	ENST00000377865.2	37	c.3353	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688722	0.48097	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55234	0.6;0.6;0.53;0.53	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000119	T	0.62660	0.2446	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	P;P;P	0.62298	0.797;0.9;0.853	T	0.62581	-0.6824	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1076;1084;1118	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	V	1118;1118;1084;1084	ENSP00000442186:G1118V;ENSP00000367096:G1118V;ENSP00000401699:G1084V;ENSP00000332060:G1084V	ENSP00000332060:G1084V	G	-	2	0	PCDH9	65777149	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.463000	0.80869	2.890000	0.99128	0.650000	0.86243	GGT	-	NULL		0.408	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	protein_coding	OTTHUMT00000276387.1	C	NM_203487	-		66879148	-1	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66879148	C	A	66879148	3	1	232	1	0	0	0	0	1	0	0	0	11520	507	18	3	364	3	PCDH9	13	66879148	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	21289971	66879148	48290730	60	18809											
MYCBP2	23077	genome.wustl.edu	37	chr13	77798600	77798600	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctggagttgacatcTccatgtcctagctgcccatg	9	12	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr13:77798600T>C	ENST00000544440.2	-	20	2828	c.2811A>G	c.(2809-2811)ggA>ggG	p.G937G	MYCBP2_ENST00000407578.2_Silent_p.G975G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.G937G					MYC binding protein 2, E3 ubiquitin protein ligase											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)		AGTTGACATCTCCATGTCCTA	0.348																																																	0								ENSG00000005810						117	109	112					13																	77798600		2203	4300	6503	MYCBP2	SO:0001819	synonymous_variant	0			-	HGNC	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.2811A>G	13.37:g.77798600T>C		Somatic	0	57	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00		Silent	SNP							pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G975	ENST00000544440.2	37	c.2925		13																																																																																			-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold,pfscan_Reg_chr_condens		0.348	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	T	NM_015057	-		77798600	-1	no_errors	ENST00000407578	ensembl	human	known	74_37	silent	SNP	0.999	C	C	77798600	T	C	77798600	2	2	232	1	0	0	0	0	0	0	0	1	10020	1538	54	5		5	MYCBP2	13	77798600	Silent	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	10919452	77798600	37371278	61	18810											
DHRS2	10202	genome.wustl.edu	37	chr14	24113363	24113363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttccattgcagcttataatCcagtagtggtaagtgcttgg	10	8	0	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr14:24113363C>A	ENST00000250383.6	+	6	1008	c.532C>A	c.(532-534)Cca>Aca	p.P178T	DHRS2_ENST00000344777.7_Missense_Mutation_p.P178T	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	178					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.P178S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		AGCTTATAATCCAGTAGTGGT	0.488																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000100867						260	217	232					14																	24113363		2203	4300	6503	DHRS2	SO:0001583	missense	0			-	HGNC		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18349	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 1"	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.532C>A	14.37:g.24113363C>A	ENSP00000250383:p.Pro178Thr	Somatic	0	55	0		0.569485150938148	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	38	52.50	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.P178T	ENST00000250383.6	37	c.532	CCDS9604.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.506597|2.506597	0.44558|0.44558	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777;ENST00000553600|ENST00000557535	T;T;T;T|.	0.39787|.	1.06;1.06;1.06;1.06|.	5.08|5.08	2.71|2.71	0.32032|0.32032	.|.	0.112546|.	0.64402|.	D|.	0.000008|.	T|T	0.37433|0.37433	0.1003|0.1003	L|L	0.48935|0.48935	1.535|1.535	0.18873|0.18873	N|N	0.999988|0.999988	P;D;P|.	0.71674|.	0.837;0.998;0.723|.	P;D;P|.	0.73708|.	0.892;0.981;0.582|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|5	0.62326|.	D|.	0.03|.	.|.	5.1926|5.1926	0.15218|0.15218	0.0:0.6635:0.187:0.1495|0.0:0.6635:0.187:0.1495	.|.	178;178;156|.	C9JZP6;D3DS54;Q13268-2|.	.;.;.|.	T|Y	178;178;178;78|93	ENSP00000401213:P178T;ENSP00000250383:P178T;ENSP00000344674:P178T;ENSP00000451485:P78T|.	ENSP00000250383:P178T|.	P|S	+|+	1|2	0|0	DHRS2|DHRS2	23183203|23183203	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.597000|0.597000	0.24059|0.24059	0.429000|0.429000	0.26202|0.26202	0.655000|0.655000	0.94253|0.94253	CCA|TCC	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_ADH_insect		0.488	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHRS2	protein_coding	OTTHUMT00000071842.2	C	NM_182908	-		24113363	1	no_errors	ENST00000344777	ensembl	human	known	74_37	missense	SNP	0.004	A	A	24113363	C	A	24113363	3	1	232	1	0	0	0	0	1	0	0	0	4492	855	30	3	550	3	DHRS2	14	24113363	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		24113363	83236177	62	18811											
RYR3	6263	genome.wustl.edu	37	chr15	34028478	34028478	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagcaactcctgcgacgcctCgtttttgatgtgccgcaact	9	14	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr15:34028478C>G	ENST00000389232.4	+	49	7537	c.7467C>G	c.(7465-7467)ctC>ctG	p.L2489L	RYR3_ENST00000415757.3_Silent_p.L2489L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2489	4 X approximate repeats.				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)		TGCGACGCCTCGTTTTTGATG	0.393																																																	0								ENSG00000198838						125	115	118					15																	34028478		1905	4145	6050	RYR3	SO:0001819	synonymous_variant	0			-	HGNC		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.7467C>G	15.37:g.34028478C>G		Somatic	0	89	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	O15175|Q15412	Silent	SNP							pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L2489	ENST00000389232.4	37	c.7467	CCDS45210.1	15																																																																																			-	superfamily_ARM-type_fold		0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	C		-		34028478	1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	SNP	0.286	G	G	34028478	C	G	34028478	2	3	232	1	0	0	0	0	0	0	0	1	13778	871	31	4		4	RYR3	15	34028478	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		34028478	68502914	63	18812											
TGM5	9333	genome.wustl.edu	37	chr15	43552427	43552427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagccaggcaatccaggGgctggggctgtgatggcgtg	17	11	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr15:43552427G>T	ENST00000220420.5	-	3	266	c.259C>A	c.(259-261)Ccc>Acc	p.P87T	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	87					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)	GCAATCCAGGGGCTGGGGCTG	0.647																																																	0								ENSG00000104055						37	43	41					15																	43552427		2202	4299	6501	TGM5	SO:0001583	missense	0			-	HGNC	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.259C>A	15.37:g.43552427G>T	ENSP00000220420:p.Pro87Thr	Somatic	0	40	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP							pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.P87T	ENST00000220420.5	37	c.259	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	G	0.413	-0.912050	0.02415	.	.	ENSG00000104055	ENST00000220420;ENST00000396996	D	0.84146	-1.81	4.69	1.74	0.24563	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.597682	0.17633	N	0.167340	T	0.68815	0.3042	N	0.19112	0.55	0.09310	N	1	B	0.18968	0.032	B	0.21151	0.033	T	0.50651	-0.8803	10	0.11485	T	0.65	-4.1352	5.6856	0.17801	0.1735:0.0:0.6692:0.1573	.	87	O43548	TGM5_HUMAN	T	87;86	ENSP00000220420:P87T	ENSP00000220420:P87T	P	-	1	0	TGM5	41339719	0.186000	0.23225	0.894000	0.35097	0.026000	0.11368	0.764000	0.26532	0.288000	0.22398	-0.150000	0.13652	CCC	-	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.647	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	protein_coding	OTTHUMT00000432257.1	G	NM_004245	-		43552427	-1	no_errors	ENST00000220420	ensembl	human	known	74_37	missense	SNP	0.001	T	T	43552427	G	T	43552427	3	4	232	1	0	0	0	0	1	0	0	0	15840	1232	43	3	1947	3	TGM5	15	43552427	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	9523949	43552427	58978965	64	18813											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84611408	84611408	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggaattcagacccgAgatgtgtactgcctgcaccc	12	11	1	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr15:84611408A>G	ENST00000286744.5	+	18	2402	c.2178A>G	c.(2176-2178)cgA>cgG	p.R726R	ADAMTSL3_ENST00000567476.1_Silent_p.R726R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	726	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGACCCGAGATGTGTACT	0.542																																																	0								ENSG00000156218						95	95	95					15																	84611408		2203	4300	6503	ADAMTSL3	SO:0001819	synonymous_variant	0			-	HGNC	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2178A>G	15.37:g.84611408A>G		Somatic	0	56	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	A1A566|A1A567|Q9ULI7	Silent	SNP							pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.R726	ENST00000286744.5	37	c.2178	CCDS10326.1	15																																																																																			-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	A	NM_207517	-		84611408	1	no_errors	ENST00000286744	ensembl	human	known	74_37	silent	SNP	0.103	G	G	84611408	A	G	84611408	2	3	232	1	0	0	0	0	0	0	0	1	276	291	11	5		5	ADAMTSL3	15	84611408	Silent	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	41058981	84611408	17919984	65	18814											
IQGAP1	8826	genome.wustl.edu	37	chr15	91034675	91034675	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaacctcactcttcaAgagaagaaagagaagatcca	8	10	3	4			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr15:91034675A>T	ENST00000268182.5	+	34	4483	c.4359A>T	c.(4357-4359)caA>caT	p.Q1453H	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q881H	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1453	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCACTCTTCAAGAGAAGAAAG	0.438																																																	0								ENSG00000140575						129	125	127					15																	91034675		2198	4298	6496	IQGAP1	SO:0001583	missense	0			-	HGNC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4359A>T	15.37:g.91034675A>T	ENSP00000268182:p.Gln1453His	Somatic	0	65	0		0.569485150938148	215	18.11	48	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	73	14.12	A7MBM3	Missense_Mutation	SNP							pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.Q1453H	ENST00000268182.5	37	c.4359	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774274	0.69992	.	.	ENSG00000140575	ENST00000268182	T	0.40476	1.03	6.08	0.857	0.19025	RasGAP protein, C-terminal (1);	0.059187	0.64402	D	0.000002	T	0.41971	0.1182	L	0.36672	1.1	0.58432	D	0.999997	P;P	0.48834	0.916;0.865	P;P	0.57009	0.811;0.637	T	0.14227	-1.0480	10	0.13470	T	0.59	-24.4073	11.2826	0.49203	0.3652:0.0:0.6348:0.0	.	74;1453	B4DNP4;P46940	.;IQGA1_HUMAN	H	1453	ENSP00000268182:Q1453H	ENSP00000268182:Q1453H	Q	+	3	2	IQGAP1	88835679	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	0.538000	0.23160	0.169000	0.19679	-0.959000	0.02639	CAA	-	pfam_RasGAP_C		0.438	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	protein_coding	OTTHUMT00000313493.1	A	NM_003870	-		91034675	1	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	SNP	1.000	T	T	91034675	A	T	91034675	3	4	232	1	0	0	0	0	1	0	0	0	7816	69	3	5	4493	5	IQGAP1	15	91034675	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09	6423267	91034675	11496717	66	18815											
TMCO7	79613	genome.wustl.edu	37	chr16	68896912	68896912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacatgctggatcaagtctAtcagcccttagcagtccggg	11	11	3	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr16:68896912A>G	ENST00000261778.1	+	3	812	c.800A>G	c.(799-801)tAt>tGt	p.Y267C		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	267						integral component of membrane (GO:0016021)											GATCAAGTCTATCAGCCCTTA	0.498																																																	0								ENSG00000103047						32	33	33					16																	68896912		1868	4115	5983	TANGO6	SO:0001583	missense	0			-	HGNC		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.800A>G	16.37:g.68896912A>G	ENSP00000261778:p.Tyr267Cys	Somatic	0	37	0		0.569485150938148	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	22	56.00	Q569F9|Q9H9K1	Missense_Mutation	SNP							pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.Y267C	ENST00000261778.1	37	c.800	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322544	0.81580	.	.	ENSG00000103047	ENST00000261778	T	0.68765	-0.35	5.73	5.73	0.89815	.	.	.	.	.	T	0.78660	0.4318	M	0.81239	2.535	0.53688	D	0.99997	D;D	0.64830	0.994;0.994	P;P	0.57371	0.819;0.819	T	0.80484	-0.1362	9	0.48119	T	0.1	-0.6102	13.5206	0.61566	1.0:0.0:0.0:0.0	.	267;106	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	C	267	ENSP00000261778:Y267C	ENSP00000261778:Y267C	Y	+	2	0	TMCO7	67454413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.863000	0.75489	2.176000	0.68965	0.528000	0.53228	TAT	-	NULL		0.498	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	protein_coding	OTTHUMT00000433471.2	A	XM_928235.2	-		68896912	1	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	SNP	1.000	G	G	68896912	A	G	68896912	3	3	232	1	0	0	0	0	1	0	0	0	16008	449	16	5	810	5	TMCO7	16	68896912	Missense_Mutation	SNP	A	TCGA-X6-A7WC-01A-12D-A351-09		68896912	21457841	67	18816											
NUDT7	283927	genome.wustl.edu	37	chr16	77775652	77775652	+	Frame_Shift_Del	DEL	C	C	-													caccgttttattaatcatatCtttgagtacacaaaccctga							TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr16:77775652delC	ENST00000268533.5	+	4	591	c.522delC	c.(520-522)atcfs	p.I174fs	NUDT7_ENST00000437314.3_Frame_Shift_Del_p.I121fs|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	174					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.I174I(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTAATCATATCTTTGAGTACA	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000140876						102	95	97					16																	77775652		1930	4144	6074	NUDT7	SO:0001589	frameshift_variant	0				HGNC	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.522delC	16.37:g.77775652delC	ENSP00000268533:p.Ile174fs	Somatic	0	72	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	48	44.83	B4DLE5|H3BUB8	Frame_Shift_Del	DEL							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.F175fs	ENST00000268533.5	37	c.522	CCDS42195.1	16																																																																																			-	superfamily_NUDIX_hydrolase_dom-like		0.443	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	protein_coding	OTTHUMT00000433873.1	C				77775652	1	no_errors	ENST00000268533	ensembl	human	known	74_37	frame_shift_del	DEL	0.625	-	-	77775652	C	-	77775652	7	5	232	1	0	1	0	1	0	0	0	0	10746	903	32	0	536	0	NUDT7	16	77775652	Frame_Shift_Del	DEL	C	TCGA-X6-A7WC-01A-12D-A351-09	8878740	77775652	12579101	68	18817											
TP53	7157	genome.wustl.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	11	14	1	0	rs397516437		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000420246.2_Missense_Mutation_p.G244S|TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000359597.4_Missense_Mutation_p.G244S	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)						ENSG00000141510						147	111	123					17																	7577551		2203	4300	6503	TP53	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;	-	HGNC	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.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser	Somatic	0	51	0		0.569485150938148	26	75	78	WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	18	78.82	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G244S	ENST00000269305.4	37	c.730	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577551	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577551	C	T	7577551	3	4	232	1	0	0	0	0	1	0	0	0	16388	623	22	2	560	2	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		7577551	73617659	69	18818											
SLC47A2	146802	genome.wustl.edu	37	chr17	19611114	19611114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagagaaggaggaagacGgtctgtgcaaactgggagat	16	4	1	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr17:19611114G>A	ENST00000325411.5	-	8	830	c.780C>T	c.(778-780)acC>acT	p.T260T	SLC47A2_ENST00000350657.5_Silent_p.T224T|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	260					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GGAGGAAGACGGTCTGTGCAA	0.622																																																	0								ENSG00000180638						122	100	108					17																	19611114		2203	4298	6501	SLC47A2	SO:0001819	synonymous_variant	0			-	HGNC	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.780C>T	17.37:g.19611114G>A		Somatic	0	47	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	114	12.98	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP							pfam_MATE,tigrfam_MATE	p.T260	ENST00000325411.5	37	c.780	CCDS11211.1	17																																																																																			-	tigrfam_MATE		0.622	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	protein_coding	OTTHUMT00000132242.2	G	NM_152908	-		19611114	-1	no_errors	ENST00000325411	ensembl	human	known	74_37	silent	SNP	0.000	A	A	19611114	G	A	19611114	2	1	232	1	0	0	0	0	0	0	0	1	14656	1103	39	1		1	SLC47A2	17	19611114	Silent	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	12033563	19611114	61584096	70	18819											
TBKBP1	9755	genome.wustl.edu	37	chr17	45787898	45787898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggctccgacatccgcaGctgccccctctgccagctgg	13	17	1	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr17:45787898G>A	ENST00000361722.3	+	9	2603	c.1754G>A	c.(1753-1755)aGc>aAc	p.S585N		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GACATCCGCAGCTGCCCCCTC	0.602																																																	0								ENSG00000198933						40	47	45					17																	45787898		1995	4144	6139	TBKBP1	SO:0001583	missense	0			-	HGNC	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.1754G>A	17.37:g.45787898G>A	ENSP00000354777:p.Ser585Asn	Somatic	0	71	0		0.569485150938148	6	66.67	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	11	78.85		Missense_Mutation	SNP							NULL	p.S585N	ENST00000361722.3	37	c.1754	CCDS45722.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.262943	0.95399	.	.	ENSG00000198933	ENST00000361722	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.70117	-0.4960	9	0.87932	D	0	-20.6956	18.5721	0.91138	0.0:0.0:1.0:0.0	.	585	A7MCY6	TBKB1_HUMAN	N	585	.	ENSP00000354777:S585N	S	+	2	0	TBKBP1	43142897	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.095000	0.94175	2.687000	0.91594	0.462000	0.41574	AGC	-	NULL		0.602	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	protein_coding	OTTHUMT00000441363.1	G	NM_014726	-		45787898	1	no_errors	ENST00000361722	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45787898	G	A	45787898	3	1	232	1	0	0	0	0	1	0	0	0	15645	971	34	2	1788	2	TBKBP1	17	45787898	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	26176784	45787898	35407312	71	18820											
COL1A1	1277	genome.wustl.edu	37	chr17	48271338	48271338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccagggaatcccatcacaCcagcctgaccacgggcacca	9	17	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr17:48271338C>A	ENST00000225964.5	-	25	1851	c.1733G>T	c.(1732-1734)gGt>gTt	p.G578V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	578	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCCCATCACACCAGCCTGACC	0.592			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"collagen, type I, alpha 1"	yes	M	0								ENSG00000108821						56	59	58					17																	48271338		2203	4300	6503	COL1A1	SO:0001583	missense	0			-	HGNC	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1733G>T	17.37:g.48271338C>A	ENSP00000225964:p.Gly578Val	Somatic	0	49	0		0.569485150938148	23387	45.66	19707	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G578V	ENST00000225964.5	37	c.1733	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932061	0.73442	.	.	ENSG00000108821	ENST00000225964	D	0.99637	-6.29	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.97659	4.05	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96798	0.9587	10	0.87932	D	0	.	15.9855	0.80147	0.0:1.0:0.0:0.0	.	578	P02452	CO1A1_HUMAN	V	578	ENSP00000225964:G578V	ENSP00000225964:G578V	G	-	2	0	COL1A1	45626337	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.561000	0.82288	2.309000	0.77851	0.655000	0.94253	GGT	-	NULL		0.592	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	protein_coding	OTTHUMT00000309036.2	C		-		48271338	-1	no_errors	ENST00000225964	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48271338	C	A	48271338	3	1	232	1	0	0	0	0	1	0	0	0	3679	507	18	3	2769	3	COL1A1	17	48271338	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	2483440	48271338	32923872	72	18821											
LPIN2	9663	genome.wustl.edu	37	chr18	2951057	2951057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagagtcctaccgtgCtgcctgggcccccttgtcat	12	14	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr18:2951057C>A	ENST00000261596.4	-	4	824	c.586G>T	c.(586-588)Gca>Tca	p.A196S	RP11-737O24.2_ENST00000581488.1_RNA|RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	196					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCCTACCGTGCTGCCTGGGCC	0.542																																																	0								ENSG00000101577						131	113	119					18																	2951057		2203	4300	6503	LPIN2	SO:0001583	missense	0			-	HGNC	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.586G>T	18.37:g.2951057C>A	ENSP00000261596:p.Ala196Ser	Somatic	0	34	0		0.569485150938148	12	20	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	61	10.14	A7MD25|D3DUH3	Missense_Mutation	SNP							pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.A196S	ENST00000261596.4	37	c.586	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	1.111	-0.658167	0.03454	.	.	ENSG00000101577	ENST00000261596;ENST00000455369	T	0.79454	-1.27	5.92	1.61	0.23674	.	0.462131	0.26424	N	0.024460	T	0.52725	0.1752	N	0.16166	0.38	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36286	-0.9754	10	0.02654	T	1	.	8.5588	0.33498	0.0:0.4511:0.3907:0.1582	.	196	Q92539	LPIN2_HUMAN	S	196	ENSP00000261596:A196S	ENSP00000261596:A196S	A	-	1	0	LPIN2	2941057	0.000000	0.05858	0.959000	0.39883	0.027000	0.11550	0.052000	0.14163	0.821000	0.34540	-0.136000	0.14681	GCA	-	NULL		0.542	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	protein_coding	OTTHUMT00000254363.2	C	NM_014646	-		2951057	-1	no_errors	ENST00000261596	ensembl	human	known	74_37	missense	SNP	0.004	A	A	2951057	C	A	2951057	3	1	232	1	0	0	0	0	1	0	0	0	8921	797	28	3	2172	3	LPIN2	18	2951057	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		2951057	75126191	73	18822											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14779966	14779966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatttttagatcagatGttcccatcagaatccaaacg	5	9	2	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr18:14779966G>A	ENST00000358984.4	+	11	1608	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.M476I|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	476										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGATCAGATGTTCCCATCAG	0.279																																																	0								ENSG00000180777						178	160	165					18																	14779966		692	1591	2283	ANKRD30B	SO:0001583	missense	0			-	HGNC	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1428G>A	18.37:g.14779966G>A	ENSP00000351875:p.Met476Ile	Somatic	0	100	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	86	20.37	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M476I	ENST00000358984.4	37	c.1428	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	1.808	-0.475490	0.04414	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.34667	3.45;1.35	1.69	-1.51	0.08664	.	.	.	.	.	T	0.22244	0.0536	L	0.36672	1.1	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.23511	-1.0186	9	0.48119	T	0.1	.	2.0333	0.03534	0.3537:0.0:0.389:0.2574	.	476	F8WAG3	.	I	476	ENSP00000351875:M476I;ENSP00000399031:M476I	ENSP00000351875:M476I	M	+	3	0	ANKRD30B	14769966	1.000000	0.71417	0.000000	0.03702	0.126000	0.20510	1.238000	0.32707	-0.447000	0.07138	0.297000	0.19635	ATG	-	NULL		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	protein_coding	OTTHUMT00000443557.1	G	NM_001145029	-		14779966	1	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	SNP	0.000	A	A	14779966	G	A	14779966	3	1	232	1	0	0	0	0	1	0	0	0	659	1377	48	2	1470	2	ANKRD30B	18	14779966	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	11828909	14779966	63297282	74	18823											
ZBTB7C	201501	genome.wustl.edu	37	chr18	45566623	45566623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttgatcttccgatTcttgatgaccagatccagtg	7	13	2	4			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr18:45566623T>C	ENST00000588982.1	-	3	1357	c.856A>G	c.(856-858)Aat>Gat	p.N286D	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.N286D|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.N286D|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.N286D|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.N286D			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	286							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCTTCCGATTCTTGATGACC	0.607																																																	0								ENSG00000184828						36	41	39					18																	45566623		2201	4297	6498	ZBTB7C	SO:0001583	missense	0			-	HGNC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.856A>G	18.37:g.45566623T>C	ENSP00000468782:p.Asn286Asp	Somatic	0	49	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	35.14	O73453	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.N286D	ENST00000588982.1	37	c.856	CCDS32830.1	18	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992609	0.35131	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.10288	2.89;2.89	5.34	5.34	0.76211	.	0.539045	0.20546	N	0.090216	T	0.07324	0.0185	N	0.14661	0.345	0.29028	N	0.885874	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.20405	-1.0276	10	0.14252	T	0.57	.	15.2867	0.73833	0.0:0.0:0.0:1.0	.	286;286	B2RG49;A1YPR0	.;ZBT7C_HUMAN	D	286	ENSP00000439781:N286D;ENSP00000328732:N286D	ENSP00000328732:N286D	N	-	1	0	ZBTB7C	43820621	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.888000	0.63164	2.013000	0.59113	0.459000	0.35465	AAT	-	NULL		0.607	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	protein_coding	OTTHUMT00000450731.1	T	NM_001039360	-		45566623	-1	no_errors	ENST00000332053	ensembl	human	known	74_37	missense	SNP	1.000	C	C	45566623	T	C	45566623	3	2	232	1	0	0	0	0	1	0	0	0	17562	1783	62	5	1011	5	ZBTB7C	18	45566623	Missense_Mutation	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	30786657	45566623	32510625	75	18824											
PPAP2C	8612	genome.wustl.edu	37	chr19	288083	288083	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgatggtatctggacgGtaggggtaccggatggagtc	19	5	1	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:288083G>T	ENST00000269812.3	-	2	190	c.141C>A	c.(139-141)taC>taA	p.Y47*	PPAP2C_ENST00000327790.3_Nonsense_Mutation_p.Y68*|PPAP2C_ENST00000434325.2_5'UTR	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	47					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		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)		TATCTGGACGGTAGGGGTACC	0.627																																																	0								ENSG00000141934						157	126	136					19																	288083		2203	4300	6503	PPAP2C	SO:0001587	stop_gained	0			-	HGNC	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.141C>A	19.37:g.288083G>T	ENSP00000269812:p.Tyr47*	Somatic	0	177	0		0.569485150938148	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	136	21.39	A6NLV0|E9PAY8	Nonsense_Mutation	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.Y68*	ENST00000269812.3	37	c.204	CCDS12023.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.299988	0.97453	.	.	ENSG00000141934	ENST00000269812;ENST00000327790	.	.	.	4.7	4.7	0.59300	.	0.369090	0.24470	N	0.038258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.604	16.6041	0.84824	0.0:0.0:1.0:0.0	.	.	.	.	X	47;68	.	ENSP00000269812:Y47X	Y	-	3	2	PPAP2C	239083	1.000000	0.71417	0.515000	0.27774	0.980000	0.70556	3.794000	0.55492	2.335000	0.79485	0.650000	0.86243	TAC	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.627	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2C	protein_coding	OTTHUMT00000451777.2	G		-		288083	-1	no_errors	ENST00000327790	ensembl	human	known	74_37	nonsense	SNP	0.865	T	T	288083	G	T	288083	4	4	232	1	0	0	0	0	0	1	0	0	12294	1256	44	3	745	3	PPAP2C	19	288083	Nonsense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09		288083	58840900	76	18825											
C3	718	genome.wustl.edu	37	chr19	6684798	6684798	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccttaccgacaaggtgccTtggccttttccttcagctgt	8	13	1	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:6684798T>A	ENST00000245907.6	-	31	4109	c.4017A>T	c.(4015-4017)caA>caT	p.Q1339H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1339					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)	ACAAGGTGCCTTGGCCTTTTC	0.542																																																	0								ENSG00000125730						212	176	188					19																	6684798		2203	4300	6503	C3	SO:0001583	missense	0			-	HGNC	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.4017A>T	19.37:g.6684798T>A	ENSP00000245907:p.Gln1339His	Somatic	0	61	0		0.569485150938148	220	0.45	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	67	9.33	A7E236	Missense_Mutation	SNP							pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.Q1339H	ENST00000245907.6	37	c.4017	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	T	19.42	3.823840	0.71143	.	.	ENSG00000125730	ENST00000245907	T	0.33865	1.39	5.31	2.1	0.27182	.	0.484707	0.23354	N	0.049086	T	0.53498	0.1800	M	0.86028	2.79	0.28896	N	0.893585	D	0.58268	0.982	P	0.58013	0.831	T	0.52147	-0.8614	10	0.45353	T	0.12	.	8.6441	0.33994	0.0:0.2285:0.0:0.7715	.	1339	P01024	CO3_HUMAN	H	1339	ENSP00000245907:Q1339H	ENSP00000245907:Q1339H	Q	-	3	2	C3	6635798	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.279000	0.33191	0.100000	0.17581	0.477000	0.44152	CAA	-	NULL		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	T	NM_000064	-		6684798	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	SNP	1.000	A	A	6684798	T	A	6684798	3	1	232	1	0	0	0	0	1	0	0	0	2206	1606	56	5	1018	5	C3	19	6684798	Missense_Mutation	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09	6396715	6684798	52444185	77	18826											
INSR	3643	genome.wustl.edu	37	chr19	7267849	7267849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtccttcgatgacagaGcaattctccagctcatgcaa	8	11	2	2			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:7267849G>A	ENST00000302850.5	-	2	301	c.159C>T	c.(157-159)tgC>tgT	p.C53C	INSR_ENST00000341500.5_Silent_p.C53C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	53	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGATGACAGAGCAATTCTCCA	0.468																																																	0								ENSG00000171105						65	61	62					19																	7267849		2203	4300	6503	INSR	SO:0001819	synonymous_variant	0			-	HGNC	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.159C>T	19.37:g.7267849G>A		Somatic	0	39	0		0.569485150938148	16	5.88	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP							pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.C53	ENST00000302850.5	37	c.159	CCDS12176.1	19																																																																																			-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L		0.468	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	protein_coding	OTTHUMT00000458544.1	G		-		7267849	-1	no_errors	ENST00000302850	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7267849	G	A	7267849	2	1	232	1	0	0	0	0	0	0	0	1	7775	963	34	2		2	INSR	19	7267849	Silent	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	583051	7267849	51861134	78	18827											
DOCK6	57572	genome.wustl.edu	37	chr19	11354301	11354301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggccaagtgcacggccGtccaggcgaagggcatgcgg	17	11	0	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:11354301G>A	ENST00000294618.7	-	11	1201	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	397					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GTGCACGGCCGTCCAGGCGAA	0.682											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000130158						26	35	32					19																	11354301		2162	4270	6432	DOCK6	SO:0001583	missense	0			-	HGNC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1190C>T	19.37:g.11354301G>A	ENSP00000294618:p.Thr397Met	Somatic	0	25	0	671	0.569485150938148	10	16.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	51	17.74	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N	p.T397M	ENST00000294618.7	37	c.1190	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.078115	0.94000	.	.	ENSG00000130158	ENST00000294618	T	0.17691	2.26	4.48	4.48	0.54585	.	0.061993	0.64402	D	0.000005	T	0.45175	0.1329	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.52381	-0.8583	10	0.59425	D	0.04	-13.7507	15.913	0.79485	0.0:0.0:1.0:0.0	.	397	Q96HP0	DOCK6_HUMAN	M	397	ENSP00000294618:T397M	ENSP00000294618:T397M	T	-	2	0	DOCK6	11215301	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	7.339000	0.79282	2.039000	0.60335	0.462000	0.41574	ACG	-	NULL		0.682	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	G	NM_020812	-		11354301	-1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	SNP	1.000	A	A	11354301	G	A	11354301	3	1	232	1	0	0	0	0	1	0	0	0	4693	1145	40	1	5105	1	DOCK6	19	11354301	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	4086452	11354301	47774682	79	18828											
RHPN2	85415	genome.wustl.edu	37	chr19	33498977	33498977	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagcctgcgtctgccgatCacaccgggtcccaatctggg	11	17	3	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:33498977C>T	ENST00000254260.3	-	7	738	c.703G>A	c.(703-705)Gat>Aat	p.D235N	RHPN2_ENST00000400226.4_Missense_Mutation_p.D84N	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	235	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTCTGCCGATCACACCGGGTC	0.627																																																	0								ENSG00000131941						30	26	27					19																	33498977		2202	4300	6502	RHPN2	SO:0001583	missense	0			-	HGNC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.703G>A	19.37:g.33498977C>T	ENSP00000254260:p.Asp235Asn	Somatic	0	101	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	133	18.40	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP							pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.D235N	ENST00000254260.3	37	c.703	CCDS12427.1	19	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815428	0.02776	.	.	ENSG00000131941	ENST00000254260;ENST00000400226	T;T	0.16457	2.34;2.34	4.36	-2.36	0.06663	BRO1 domain (3);	0.245363	0.46758	N	0.000264	T	0.04137	0.0115	N	0.02181	-0.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43861	-0.9365	10	0.12430	T	0.62	0.7469	5.9088	0.19016	0.0:0.2975:0.1284:0.5741	.	235	Q8IUC4	RHPN2_HUMAN	N	235;84	ENSP00000254260:D235N;ENSP00000402244:D84N	ENSP00000254260:D235N	D	-	1	0	RHPN2	38190817	0.042000	0.20092	0.479000	0.27329	0.124000	0.20399	0.292000	0.19011	-0.799000	0.04439	-0.693000	0.03709	GAT	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.627	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	protein_coding	OTTHUMT00000450828.2	C	NM_033103	-		33498977	-1	no_errors	ENST00000254260	ensembl	human	known	74_37	missense	SNP	0.149	T	T	33498977	C	T	33498977	3	4	232	1	0	0	0	0	1	0	0	0	13359	826	29	2	1393	2	RHPN2	19	33498977	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	22144676	33498977	25630006	80	18829											
RYR1	6261	genome.wustl.edu	37	chr19	39051993	39051993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccttgagtacttccgcCcctacctgggccgcatcgag	10	16	0	1			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:39051993C>T	ENST00000359596.3	+	90	12523	c.12523C>T	c.(12523-12525)Ccc>Tcc	p.P4175S	RYR1_ENST00000355481.4_Missense_Mutation_p.P4170S|RYR1_ENST00000360985.3_Missense_Mutation_p.P4170S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4175					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)	GTACTTCCGCCCCTACCTGGG	0.637																																																	0								ENSG00000196218						94	71	79					19																	39051993		2203	4300	6503	RYR1	SO:0001583	missense	0			-	HGNC	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.12523C>T	19.37:g.39051993C>T	ENSP00000352608:p.Pro4175Ser	Somatic	0	34	0		0.569485150938148	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	38	39.68	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P4175S	ENST00000359596.3	37	c.12523	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657850	0.47467	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97455	-4.39;-4.39;-4.39	3.67	3.67	0.42095	.	0.000000	0.64402	U	0.000002	D	0.97860	0.9297	M	0.74467	2.265	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.997;0.994	D;P;P	0.66351	0.943;0.9;0.796	D	0.97512	1.0067	10	0.38643	T	0.18	.	15.5959	0.76578	0.0:1.0:0.0:0.0	.	4170;4170;4175	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	S	4175;4170;4170	ENSP00000352608:P4175S;ENSP00000347667:P4170S;ENSP00000354254:P4170S	ENSP00000347667:P4170S	P	+	1	0	RYR1	43743833	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.569000	0.82380	2.082000	0.62665	0.298000	0.19748	CCC	-	NULL		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C		-		39051993	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39051993	C	T	39051993	3	4	232	1	0	0	0	0	1	0	0	0	13776	623	22	2	12881	2	RYR1	19	39051993	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	5553016	39051993	20076990	81	18830											
PLEKHG2	64857	genome.wustl.edu	37	chr19	39915497	39915497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttttgtccaaaccaggaGgctccttagcctctcacgtt	9	12	1	0	rs138840836		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:39915497G>T	ENST00000409794.3	+	19	4574	c.3724G>T	c.(3724-3726)Ggc>Tgc	p.G1242C	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G1183C|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.G1213C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1242					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)			CAAACCAGGAGGCTCCTTAGC	0.582																																																	0								ENSG00000090924						154	153	153					19																	39915497		2203	4300	6503	PLEKHG2	SO:0001583	missense	0			-	HGNC	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.3724G>T	19.37:g.39915497G>T	ENSP00000386733:p.Gly1242Cys	Somatic	0	39	0		0.569485150938148	70	18.6	16	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	53	18.46	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP							pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1242C	ENST00000409794.3	37	c.3724	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.51|16.51	3.142155|3.142155	0.57044|0.57044	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;D;D	.|0.82433	.|-1.4;-1.51;-1.61	4.94|4.94	-1.39|-1.39	0.08997|0.08997	.|.	.|0.392321	.|0.18802	.|N	.|0.130774	D|D	0.82632|0.82632	0.5079|0.5079	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999997|0.999997	.|D;D;B	.|0.63046	.|0.992;0.986;0.025	.|P;P;B	.|0.57620	.|0.824;0.671;0.016	T|T	0.72398|0.72398	-0.4306|-0.4306	5|9	.|.	.|.	.|.	.|.	3.8551|3.8551	0.08971|0.08971	0.3885:0.0:0.4509:0.1605|0.3885:0.0:0.4509:0.1605	.|.	.|1213;1242;1183	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	D|C	1109|1242;1213;1183	.|ENSP00000386733:G1242C;ENSP00000392906:G1213C;ENSP00000408857:G1183C	.|.	E|G	+|+	3|1	2|0	PLEKHG2|PLEKHG2	44607337|44607337	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.105000|0.105000	0.19272|0.19272	-0.408000|-0.408000	0.07169|0.07169	-0.280000|-0.280000	0.09154|0.09154	0.561000|0.561000	0.74099|0.74099	GAG|GGC	-	NULL		0.582	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	protein_coding	OTTHUMT00000326802.1	G	NM_022835	-		39915497	1	no_errors	ENST00000409794	ensembl	human	known	74_37	missense	SNP	0.001	T	T	39915497	G	T	39915497	3	4	232	1	0	0	0	0	1	0	0	0	12071	1000	35	3	3794	3	PLEKHG2	19	39915497	Missense_Mutation	SNP	G	TCGA-X6-A7WC-01A-12D-A351-09	863504	39915497	19213486	82	18831											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.569485150938148	67	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	232	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-X6-A7WC-01A-12D-A351-09	1258396	41173893	17955090	83	18832											
SIGLEC9	27180	genome.wustl.edu	37	chr19	51629011	51629011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctggacccctccaccacCcgctcctcggtgctcaccct	6	24	1	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr19:51629011C>A	ENST00000250360.3	+	2	646	c.579C>A	c.(577-579)acC>acA	p.T193T	SIGLEC9_ENST00000440804.3_Silent_p.T193T	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	193	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTCCACCACCCGCTCCTCGG	0.647																																																	0								ENSG00000129450						69	69	69					19																	51629011		2203	4300	6503	SIGLEC9	SO:0001819	synonymous_variant	0			-	HGNC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.579C>A	19.37:g.51629011C>A		Somatic	0	56	0		0.569485150938148	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	29	56.76	Q6GTU4|Q9BYI9	Silent	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.T193	ENST00000250360.3	37	c.579	CCDS12825.1	19																																																																																			-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom		0.647	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	protein_coding	OTTHUMT00000464224.1	C	NM_014441	-		51629011	1	no_errors	ENST00000440804	ensembl	human	known	74_37	silent	SNP	0.000	A	A	51629011	C	A	51629011	2	1	232	1	0	0	0	0	0	0	0	1	14323	610	22	3		3	SIGLEC9	19	51629011	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09	10455118	51629011	7499972	84	18833											
C20orf118	140711	genome.wustl.edu	37	chr20	35506417	35506417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacggtgccccagctgaCagaagccagccaggttttga	11	14	0	3			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr20:35506417C>T	ENST00000217320.3	+	2	193	c.149C>T	c.(148-150)aCa>aTa	p.T50I	TLDC2_ENST00000602922.1_Missense_Mutation_p.T50I	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	50																	CCCCAGCTGACAGAAGCCAGC	0.587																																																	0								ENSG00000101342						67	65	66					20																	35506417		2203	4300	6503	TLDC2	SO:0001583	missense	0			-	HGNC	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"		"chromosome 20 open reading frame 118"	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.149C>T	20.37:g.35506417C>T	ENSP00000217320:p.Thr50Ile	Somatic	0	37	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	B3KVU8	Missense_Mutation	SNP							pfam_TLDc,smart_TLDc	p.T50I	ENST00000217320.3	37	c.149	CCDS33465.1	20	.	.	.	.	.	.	.	.	.	.	C	9.519	1.107884	0.20714	.	.	ENSG00000101342	ENST00000217320	T	0.32023	1.47	3.58	2.64	0.31445	.	0.476413	0.18874	N	0.128779	T	0.15349	0.0370	N	0.14661	0.345	0.28683	N	0.904982	B	0.09022	0.002	B	0.06405	0.002	T	0.12837	-1.0532	10	0.27082	T	0.32	-26.3395	6.8146	0.23822	0.0:0.8725:0.0:0.1275	.	50	A0PJX2	CT118_HUMAN	I	50	ENSP00000217320:T50I	ENSP00000217320:T50I	T	+	2	0	C20orf118	34939831	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.675000	0.37555	1.089000	0.41292	0.561000	0.74099	ACA	-	NULL		0.587	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TLDC2	protein_coding	OTTHUMT00000079060.2	C	NM_080628	-		35506417	1	no_errors	ENST00000217320	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35506417	C	T	35506417	3	4	232	1	0	0	0	0	1	0	0	0	2086	478	17	2	155	2	C20orf118	20	35506417	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		35506417	27519103	85	18834											
IGSF5	150084	genome.wustl.edu	37	chr21	41137760	41137760	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtcgcctgcatggatcTgcttaccttaccgtccaagg	9	13	1	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr21:41137760T>C	ENST00000380588.4	+	3	502	c.399T>C	c.(397-399)tcT>tcC	p.S133S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	133	Ig-like V-type 1.				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)				TGCATGGATCTGCTTACCTTA	0.527																																																	0								ENSG00000183067						89	78	82					21																	41137760		2203	4300	6503	IGSF5	SO:0001819	synonymous_variant	0			-	HGNC		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.399T>C	21.37:g.41137760T>C		Somatic	0	36	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	26	31.58		Silent	SNP							pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S133	ENST00000380588.4	37	c.399	CCDS33562.1	21																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.527	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IGSF5	protein_coding	OTTHUMT00000195005.1	T		-		41137760	1	no_errors	ENST00000380588	ensembl	human	novel	74_37	silent	SNP	0.004	C	C	41137760	T	C	41137760	2	2	232	1	0	0	0	0	0	0	0	1	7604	1567	55	5		5	IGSF5	21	41137760	Silent	SNP	T	TCGA-X6-A7WC-01A-12D-A351-09		41137760	6992135	86	18835											
TXNRD2	10587	genome.wustl.edu	37	chr22	19907112	19907112	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacggccaccttccttccCagctgggcggctggaaggat	12	15	0	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chr22:19907112C>A	ENST00000400521.1	-	3	189	c.183G>T	c.(181-183)ctG>ctT	p.L61L	TXNRD2_ENST00000400519.1_Silent_p.L60L|TXNRD2_ENST00000400518.1_Silent_p.L31L|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Silent_p.L31L|TXNRD2_ENST00000535882.1_Silent_p.L60L|TXNRD2_ENST00000334363.9_Silent_p.L61L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	61					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCTTCCTTCCCAGCTGGGCGG	0.627																																																	0								ENSG00000184470						20	23	22					22																	19907112		2069	4201	6270	TXNRD2	SO:0001819	synonymous_variant	0			-	HGNC	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.183G>T	22.37:g.19907112C>A		Somatic	0	89	0		0.569485150938148	26	10.34	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	82	13.68	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP							pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.L60	ENST00000400521.1	37	c.180	CCDS42981.1	22																																																																																			-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	protein_coding	OTTHUMT00000314903.3	C	NM_006440	-		19907112	-1	no_errors	ENST00000535882	ensembl	human	known	74_37	silent	SNP	1.000	A	A	19907112	C	A	19907112	2	1	232	1	0	0	0	0	0	0	0	1	16815	581	21	3		3	TXNRD2	22	19907112	Silent	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		19907112	31397454	87	18836											
CACNA1F	778	genome.wustl.edu	37	chrX	49067930	49067930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatctcctgccatgcctcaCcagtggcacacctggtggga	10	14	2	0			TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chrX:49067930C>A	ENST00000376265.2	-	36	4206	c.4145G>T	c.(4144-4146)gGt>gTt	p.G1382V	CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1371V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1317V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1382					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|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)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATGCCTCACCAGTGGCACA	0.552																																																	0								ENSG00000102001						65	54	58					X																	49067930		2203	4300	6503	CACNA1F	SO:0001583	missense	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4145G>T	X.37:g.49067930C>A	ENSP00000365441:p.Gly1382Val	Somatic	0	32	0		0.569485150938148	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.G1382V	ENST00000376265.2	37	c.4145	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039105	0.75617	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97378	-4.36;-4.36;-4.36	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99533	1.0961	10	0.87932	D	0	.	16.9052	0.86124	0.0:1.0:0.0:0.0	.	1371;1382	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1317;1371;1382	ENSP00000365427:G1317V;ENSP00000321618:G1371V;ENSP00000365441:G1382V	ENSP00000321618:G1371V	G	-	2	0	CACNA1F	48954874	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.698000	0.84413	2.254000	0.74563	0.523000	0.50628	GGT	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	C	NM_005183	-		49067930	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49067930	C	A	49067930	3	1	232	1	0	0	0	0	1	0	0	0	2545	507	18	3	1840	3	CACNA1F	23	49067930	Missense_Mutation	SNP	C	TCGA-X6-A7WC-01A-12D-A351-09		49067930	106202630	88	18837											
ATRX	546	genome.wustl.edu	37	chrX	76889149	76889159	+	Frame_Shift_Del	DEL	TGCTGAAATCC	TGCTGAAATCC	-													aggacaaaccactaacgccgTgctgaaatccagtttgtcac							TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	TGCTGAAATCC	TGCTGAAATCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chrX:76889149_76889159delTGCTGAAATCC	ENST00000373344.5	-	18	5065_5075	c.4851_4861delGGATTTCAGCA	c.(4849-4863)ctggatttcagcacgfs	p.DFST1618fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.DFST1580fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1618	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACTAACGCCGTGCTGAAATCCAGTTTGTCAC	0.341			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224																																			ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4851_4861delGGATTTCAGCA	X.37:g.76889149_76889159delTGCTGAAATCC	ENSP00000362441:p.Asp1618fs	Somatic					0.569485150938148	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1618fs	ENST00000373344.5	37	c.4861_4851	CCDS14434.1	X																																																																																			-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.341	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	TGCTGAAATCC	NM_000489			76889159	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	76889159	TGCTGAAATCC	-	76889149	7	5	232	1	0	1	0	1	0	0	0	0	1208	1696	59	0	2689	0	ATRX	23	76889149	Frame_Shift_Del	DEL	TGCTGAAATCC	TCGA-X6-A7WC-01A-12D-A351-09	27821219	76889149	78381411	89	18838											
RBMX	27316	genome.wustl.edu	37	chrX	135961586	135961588	+	Start_Codon_Del	DEL	TGT	TGT	-													tgggcgatctgcttcaaccaTgtttttttttttttgggccg					rs201673579|rs2011584		TCGA-X6-A7WC-01A-12D-A351-09	TCGA-X6-A7WC-10A-01D-A351-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efa39e31-447e-403d-bdc4-5109d85fbfdd	f4e49b2c-3b30-4f98-b01d-8c69a8da817a	g.chrX:135961586_135961588delTGT	ENST00000320676.7	-	0	153_155				RBMX_ENST00000431446.3_Start_Codon_Del|RBMX_ENST00000562646.1_Start_Codon_Del|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000570135.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						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.?(1)		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)					GCTTCAACCATGTTTTTTTTTTT	0.389																																																	1	Unknown(1)	ovary(1)						ENSG00000147274																																			RBMX	SO:0001582	initiator_codon_variant	0				HGNC		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		X.37:g.135961586_135961588delTGT		Somatic	0	17	0		0.569485150938148	45	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Del	DEL							pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.M1fs	ENST00000320676.7	37	c.1	CCDS14661.1	X																																																																																			-	NULL		0.389	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	protein_coding	OTTHUMT00000058507.1	TGT	NM_002139			135961588	-1	no_errors	ENST00000320676	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	135961588	TGT	-	135961586	7	5	232	1	0	1	0	1	0	0	0	0	13159	1464	51	0	1261	0	RBMX	23	135961586	Start_Codon_Del	DEL	TGT	TCGA-X6-A7WC-01A-12D-A351-09	59072437	135961586	19308974	90	18839											
KDM4A	9682	genome.wustl.edu	37	chr1	44132716	44132716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactgtgcggagtctaccaAttttgctacccgtcggtgga	11	10	1	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr1:44132716A>G	ENST00000372396.3	+	8	1003	c.869A>G	c.(868-870)aAt>aGt	p.N290S		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	290	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAGTCTACCAATTTTGCTACC	0.443																																																	0								ENSG00000066135						143	136	138					1																	44132716		2203	4300	6503	KDM4A	SO:0001583	missense	0			-	HGNC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.869A>G	1.37:g.44132716A>G	ENSP00000361473:p.Asn290Ser	Somatic	0	40	0		0.727400221219537	6	77.78	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	4	86.21	Q5VVB1	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.N290S	ENST00000372396.3	37	c.869	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.337412	0.95758	.	.	ENSG00000066135	ENST00000372396	T	0.79033	-1.23	5.89	5.89	0.94794	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.95294	3.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.992	D	0.93971	0.7249	10	0.87932	D	0	-22.6074	16.3011	0.82816	1.0:0.0:0.0:0.0	.	290;290	B4DT38;O75164	.;KDM4A_HUMAN	S	290	ENSP00000361473:N290S	ENSP00000361473:N290S	N	+	2	0	KDM4A	43905303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.265000	0.95647	2.251000	0.74343	0.496000	0.49642	AAT	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.443	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	protein_coding	OTTHUMT00000019960.1	A	NM_014663	-		44132716	1	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	SNP	1.000	G	G	44132716	A	G	44132716	3	3	233	1	0	0	0	0	1	0	0	0	8130	101	4	5	895	5	KDM4A	1	44132716	Missense_Mutation	SNP	A	TCGA-X6-A7WD-01A-21D-A351-09		44132716	205117905	1	18840											
PLEKHO1	51177	genome.wustl.edu	37	chr1	150131553	150131553	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagctgctgctggagacGgaacggctgctgggagaggc	19	9	0	2	rs372807467		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr1:150131553G>T	ENST00000369124.4	+	6	1343	c.1065G>T	c.(1063-1065)acG>acT	p.T355T	PLEKHO1_ENST00000025469.6_Silent_p.T321T|PLEKHO1_ENST00000369126.1_Silent_p.T172T	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	355	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGAGACGGAACGGCTGC	0.607																																																	0								ENSG00000023902						46	50	49					1																	150131553		2203	4300	6503	PLEKHO1	SO:0001819	synonymous_variant	0			-	HGNC	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1065G>T	1.37:g.150131553G>T		Somatic	0	43	0		0.727400221219537	354	38.15	219	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	26	39.53	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T321	ENST00000369124.4	37	c.963	CCDS945.1	1																																																																																			-	NULL		0.607	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	protein_coding	OTTHUMT00000034962.1	G	NM_016274	-		150131553	1	no_errors	ENST00000025469	ensembl	human	known	74_37	silent	SNP	0.292	T	T	150131553	G	T	150131553	2	4	233	1	0	0	0	0	0	0	0	1	12086	1103	39	3		3	PLEKHO1	1	150131553	Silent	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	105998837	150131553	99119068	2	18841											
TSPYL6	388951	genome.wustl.edu	37	chr2	54483161	54483161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaacacgattggctccaagCggccatcaaacatatctgcc	9	13	2	0	rs537805712		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr2:54483161C>A	ENST00000317802.7	-	1	248	c.128G>T	c.(127-129)cGc>cTc	p.R43L	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	43					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGGCTCCAAGCGGCCATCAAA	0.602																																																	0								ENSG00000178021						80	91	88					2																	54483161		1949	4134	6083	TSPYL6	SO:0001583	missense	0			-	HGNC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.128G>T	2.37:g.54483161C>A	ENSP00000417919:p.Arg43Leu	Somatic	0	73	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	52	35.80	Q6NUJ3	Missense_Mutation	SNP							pfam_NAP_family	p.R43L	ENST00000317802.7	37	c.128	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353295	0.24512	.	.	ENSG00000178021	ENST00000317802	T	0.25250	1.81	1.22	1.22	0.21188	.	.	.	.	.	T	0.13243	0.0321	N	0.22421	0.69	0.09310	N	1	P	0.35242	0.492	B	0.24701	0.055	T	0.16837	-1.0389	9	0.59425	D	0.04	.	5.8257	0.18552	0.0:1.0:0.0:0.0	.	43	Q8N831	TSYL6_HUMAN	L	43	ENSP00000417919:R43L	ENSP00000417919:R43L	R	-	2	0	TSPYL6	54336665	0.048000	0.20356	0.123000	0.21794	0.008000	0.06430	0.399000	0.20916	0.968000	0.38212	0.467000	0.42956	CGC	-	NULL		0.602	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	protein_coding	OTTHUMT00000324069.3	C	XM_371494	-		54483161	-1	no_errors	ENST00000317802	ensembl	human	known	74_37	missense	SNP	0.156	A	A	54483161	C	A	54483161	3	1	233	1	0	0	0	0	1	0	0	0	16670	768	27	3	1108	3	TSPYL6	2	54483161	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		54483161	188716212	3	18842											
NEB	4703	genome.wustl.edu	37	chr2	152527713	152527713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccatccgatgcccttcaAgaagctgttatactcgtctt	7	12	2	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr2:152527713A>G	ENST00000172853.10	-	38	4477	c.4330T>C	c.(4330-4332)Ttg>Ctg	p.L1444L	NEB_ENST00000604864.1_Silent_p.L1444L|NEB_ENST00000427231.2_Silent_p.L1444L|NEB_ENST00000603639.1_Silent_p.L1444L|NEB_ENST00000397345.3_Silent_p.L1444L|NEB_ENST00000409198.1_Silent_p.L1444L			P20929	NEBU_HUMAN	nebulin	1444					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)		ATGCCCTTCAAGAAGCTGTTA	0.443																																																	0								ENSG00000183091						96	90	92					2																	152527713		1901	4112	6013	NEB	SO:0001819	synonymous_variant	0			-	HGNC	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.4330T>C	2.37:g.152527713A>G		Somatic	0	100	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	135	12.34	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L1444	ENST00000172853.10	37	c.4330		2																																																																																			-	pfscan_Nebulin_35r-motif		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		A	NM_004543	-		152527713	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	0.984	G	G	152527713	A	G	152527713	2	3	233	1	0	0	0	0	0	0	0	1	10304	69	3	5		5	NEB	2	152527713	Silent	SNP	A	TCGA-X6-A7WD-01A-21D-A351-09	98044552	152527713	90671660	4	18843											
HOXD8	3234	genome.wustl.edu	37	chr2	176995302	176995303	+	In_Frame_Ins	INS	-	-	CGCACC													cgcgcccccgcaggcgcacgINScgcacccgcacccgtccccg					rs557744341|rs544054860	byFrequency	TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr2:176995302_176995303insCGCACC	ENST00000313173.4	+	1	835_836	c.208_209insCGCACC	c.(208-210)gcg>gCGCACCcg	p.74_75insHP	HOXD8_ENST00000544999.1_In_Frame_Ins_p.74_75insHP|HOXD8_ENST00000450510.2_In_Frame_Ins_p.74_75insHP|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	74					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGGCGCACGCGCACCCGCAC	0.802														139	0.0277556	0.0287	0.0245	5008	,	,		8408	0.002		0.0398	False		,,,				2504	0.0429																0								ENSG00000175879		,,	38,1196		9,20,588					,,	-1.2	1			2	128,2934		36,56,1439	no	coding,intron,coding	HOXD8	NM_019558.3,NM_001199747.1,NM_001199746.1	,,	45,76,2027	A1A1,A1R,RR		4.1803,3.0794,3.8641	,,	,,		166,4130				HOXD8	SO:0001652	inframe_insertion	0				HGNC		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.215_220dupCGCACC	2.37:g.176995303_176995308dupCGCACC	ENSP00000315949:p.His73_Pro74dup	Somatic					0.727400221219537	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				F8WBG7|Q5BL00|Q8IXZ1	In_Frame_Ins	INS							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.74in_frame_insPH	ENST00000313173.4	37	c.208_209	CCDS2268.1	2																																																																																			-	NULL		0.802	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	protein_coding	OTTHUMT00000255694.1	-				176995303	1	no_errors	ENST00000313173	ensembl	human	known	74_37	in_frame_ins	INS	0.993:1.000	CGCACC	CGCACC	176995303	-	CGCACC	176995302	7	5	233	1	0	1	1	0	0	0	0	0	7327	1087	38	0	210	0	HOXD8	2	176995302	In_Frame_Ins	INS	-	TCGA-X6-A7WD-01A-21D-A351-09	24467589	176995302	66204071	5	18844											
ZNF385B	151126	genome.wustl.edu	37	chr2	180348073	180348073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcgctgtccttggaaGgaaccattttgggtttattt	10	8	0	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr2:180348073G>T	ENST00000410066.1	-	6	1199	c.596C>A	c.(595-597)cCt>cAt	p.P199H	ZNF385B_ENST00000336917.5_Missense_Mutation_p.P97H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P123H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P97H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	199	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTCCTTGGAAGGAACCATTTT	0.458																																					Colon(155;204 2491 32774 51842)												0								ENSG00000144331						371	299	323					2																	180348073		2203	4300	6503	ZNF385B	SO:0001583	missense	0			-	HGNC	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.596C>A	2.37:g.180348073G>T	ENSP00000386845:p.Pro199His	Somatic	0	101	0		0.727400221219537	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	145	12.12	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.P199H	ENST00000410066.1	37	c.596	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647063	0.47258	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.43688	1.42;1.41;1.4;1.41;1.43;0.94	5.93	5.93	0.95920	.	0.407412	0.30151	N	0.010290	T	0.36248	0.0960	N	0.22421	0.69	0.29801	N	0.832407	B;B	0.20164	0.042;0.007	B;B	0.24541	0.054;0.003	T	0.24119	-1.0169	10	0.45353	T	0.12	-19.3667	20.328	0.98708	0.0:0.0:1.0:0.0	.	199;123	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	199;97;123;97;97;130	ENSP00000386845:P199H;ENSP00000338225:P97H;ENSP00000386379:P123H;ENSP00000386507:P97H;ENSP00000394038:P97H;ENSP00000399198:P130H	ENSP00000338225:P97H	P	-	2	0	ZNF385B	180056318	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.593000	0.74100	2.802000	0.96397	0.561000	0.74099	CCT	-	NULL		0.458	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	protein_coding	OTTHUMT00000335972.1	G	NM_152520	-		180348073	-1	no_errors	ENST00000410066	ensembl	human	known	74_37	missense	SNP	1.000	T	T	180348073	G	T	180348073	3	4	233	1	0	0	0	0	1	0	0	0	17884	1000	35	3	839	3	ZNF385B	2	180348073	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	3352771	180348073	62851300	6	18845											
COL6A3	1293	genome.wustl.edu	37	chr2	238253180	238253180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttaaatgtgttcctggccAcaaacgacatggcagtctcc	9	12	1	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr2:238253180A>G	ENST00000295550.4	-	36	7933	c.7481T>C	c.(7480-7482)gTg>gCg	p.V2494A	COL6A3_ENST00000346358.4_Missense_Mutation_p.V2294A|COL6A3_ENST00000353578.4_Missense_Mutation_p.V2288A|COL6A3_ENST00000409809.1_Missense_Mutation_p.V2288A|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1887A|COL6A3_ENST00000347401.3_Missense_Mutation_p.V2293A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2494	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTCCTGGCCACAAACGACAT	0.507																																																	0								ENSG00000163359						110	100	103					2																	238253180		2203	4300	6503	COL6A3	SO:0001583	missense	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7481T>C	2.37:g.238253180A>G	ENSP00000295550:p.Val2494Ala	Somatic	0	49	0		0.727400221219537	99	90.47	987	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	11	73.81	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.V2494A	ENST00000295550.4	37	c.7481	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335543	0.41398	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.87	4.87	0.63330	von Willebrand factor, type A (3);	0.000000	0.47852	D	0.000220	D	0.88526	0.6460	M	0.79693	2.465	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	D;D;D;D	0.73380	0.965;0.953;0.941;0.98	D	0.86812	0.1999	10	0.20046	T	0.44	.	14.8002	0.69909	1.0:0.0:0.0:0.0	.	1887;1887;2288;2494	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	A	2494;2293;2288;1887;2288;2294	ENSP00000295550:V2494A;ENSP00000315609:V2293A;ENSP00000315873:V2288A;ENSP00000418285:V1887A;ENSP00000386844:V2288A;ENSP00000295546:V2294A	ENSP00000295550:V2494A	V	-	2	0	COL6A3	237917919	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	9.110000	0.94302	1.942000	0.56320	0.533000	0.62120	GTG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	A	NM_004369	-		238253180	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	SNP	1.000	G	G	238253180	A	G	238253180	3	3	233	1	0	0	0	0	1	0	0	0	3703	159	6	5	2088	5	COL6A3	2	238253180	Missense_Mutation	SNP	A	TCGA-X6-A7WD-01A-21D-A351-09	57905107	238253180	4946193	7	18846											
IRAK2	3656	genome.wustl.edu	37	chr3	10261437	10261437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtgccgtcgagtaccTgcatggtctggagatcatcc	12	12	3	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr3:10261437T>C	ENST00000256458.4	+	8	1067	c.977T>C	c.(976-978)cTg>cCg	p.L326P	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTCGAGTACCTGCATGGTCTG	0.612																																																	0								ENSG00000134070						77	63	67					3																	10261437		2203	4300	6503	IRAK2	SO:0001583	missense	0			-	HGNC	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.977T>C	3.37:g.10261437T>C	ENSP00000256458:p.Leu326Pro	Somatic	0	42	0		0.727400221219537	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L326P	ENST00000256458.4	37	c.977	CCDS33697.1	3	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437672	0.43224	.	.	ENSG00000134070	ENST00000256458	T	0.60548	0.18	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39687	N	0.001295	D	0.84737	0.5538	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89406	0.3699	10	0.87932	D	0	-13.9139	10.979	0.47483	0.0:0.0:0.0:1.0	.	326	O43187	IRAK2_HUMAN	P	326	ENSP00000256458:L326P	ENSP00000256458:L326P	L	+	2	0	IRAK2	10236437	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	4.206000	0.58473	1.839000	0.53478	0.459000	0.35465	CTG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	protein_coding	OTTHUMT00000339623.1	T		-		10261437	1	no_errors	ENST00000256458	ensembl	human	known	74_37	missense	SNP	1.000	C	C	10261437	T	C	10261437	3	2	233	1	0	0	0	0	1	0	0	0	7825	1580	55	5	1007	5	IRAK2	3	10261437	Missense_Mutation	SNP	T	TCGA-X6-A7WD-01A-21D-A351-09		10261437	187760993	8	18847											
ATP13A4	84239	genome.wustl.edu	37	chr3	193174850	193174850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttcatgaatgccagtcgGtcacctcccatctcttggac	7	15	3	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr3:193174850G>T	ENST00000342695.4	-	16	2176	c.1854C>A	c.(1852-1854)gaC>gaA	p.D618E	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D599E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	618						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGCCAGTCGGTCACCTCCCA	0.498																																																	0								ENSG00000127249						111	95	100					3																	193174850		2203	4300	6503	ATP13A4	SO:0001583	missense	0			-	HGNC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1854C>A	3.37:g.193174850G>T	ENSP00000339182:p.Asp618Glu	Somatic	0	36	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	37.50	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.D618E	ENST00000342695.4	37	c.1854	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	8.107	0.777997	0.16120	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.69435	-0.4;-0.4	5.86	3.08	0.35506	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.224666	0.38381	N	0.001713	T	0.43122	0.1233	N	0.13327	0.33	0.21220	N	0.999757	B;B;B	0.12630	0.006;0.001;0.003	B;B;B	0.18263	0.021;0.012;0.021	T	0.16571	-1.0398	10	0.17369	T	0.5	-6.2904	7.4569	0.27272	0.1902:0.0:0.6849:0.1249	.	599;618;618	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	E	599;618	ENSP00000376238:D599E;ENSP00000339182:D618E	ENSP00000339182:D618E	D	-	3	2	ATP13A4	194657544	0.000000	0.05858	0.998000	0.56505	0.810000	0.45777	-0.626000	0.05527	1.491000	0.48482	-0.140000	0.14226	GAC	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.498	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	protein_coding	OTTHUMT00000157244.4	G	NM_032279	-		193174850	-1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	SNP	0.031	T	T	193174850	G	T	193174850	3	4	233	1	0	0	0	0	1	0	0	0	1126	1252	44	3	1796	3	ATP13A4	3	193174850	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	182913413	193174850	4847580	9	18848											
POLN	353497	genome.wustl.edu	37	chr4	2074696	2074696	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaagtgtcccctcaccTgaagctgcagctccaatgcc	9	15	1	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr4:2074696T>G	ENST00000511885.2	-	25	2869	c.2516A>C	c.(2515-2517)cAg>cCg	p.Q839P	POLN_ENST00000382865.1_Splice_Site_p.Q839P			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	839					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCCCCTCACCTGAAGCTGCAG	0.632								DNA polymerases (catalytic subunits)																																									0								ENSG00000130997						87	77	81					4																	2074696		2203	4300	6503	POLN	SO:0001630	splice_region_variant	0			-	HGNC	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2517+1A>C	4.37:g.2074696T>G		Somatic	0	58	0		0.727400221219537	1	80	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	55	45.00	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.Q839P	ENST00000511885.2	37	c.2516	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	T	18.14	3.556691	0.65425	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.21031	2.03;2.03	4.09	4.09	0.47781	DNA-directed DNA polymerase, family A, palm domain (1);	0.433964	0.20945	N	0.082844	T	0.18841	0.0452	N	0.20401	0.57	0.38611	D	0.950891	P	0.50369	0.934	P	0.50896	0.653	T	0.04268	-1.0964	10	0.31617	T	0.26	-11.375	9.6347	0.39800	0.0:0.0:0.0:1.0	.	839	Q7Z5Q5	DPOLN_HUMAN	P	839	ENSP00000435506:Q839P;ENSP00000372316:Q839P	ENSP00000372316:Q839P	Q	-	2	0	POLN	2044494	0.998000	0.40836	1.000000	0.80357	0.614000	0.37383	2.176000	0.42500	1.851000	0.53745	0.459000	0.35465	CAG	-	pfam_DNA-dir_DNA_pol_A_palm_dom		0.632	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	protein_coding	OTTHUMT00000205684.2	T	NM_181808	-	Missense_Mutation	2074696	-1	no_errors	ENST00000382865	ensembl	human	known	74_37	missense	SNP	1.000	G	G	2074696	T	G	2074696	5	3	233	1	0	0	0	0	0	0	1	0	12209	1594	55	5	194	5	POLN	4	2074696	Splice_Site	SNP	T	TCGA-X6-A7WD-01A-21D-A351-09		2074696	189079580	10	18849											
LPCAT1	79888	genome.wustl.edu	37	chr5	1463892	1463892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgaaatgtgtctgatcCgggtacaggtattcctctgc	10	10	2	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr5:1463892C>T	ENST00000283415.3	-	14	1611	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	493					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GTGTCTGATCCGGGTACAGGT	0.542																																																	0								ENSG00000153395						123	120	121					5																	1463892		2203	4300	6503	LPCAT1	SO:0001819	synonymous_variant	0			-	HGNC	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1479G>A	5.37:g.1463892C>T		Somatic	0	67	0		0.727400221219537	166	20.57	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	78	15.22	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP							pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom	p.P493	ENST00000283415.3	37	c.1479	CCDS3864.1	5																																																																																			-	NULL		0.542	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	protein_coding	OTTHUMT00000304032.1	C	NM_024830	-		1463892	-1	no_errors	ENST00000283415	ensembl	human	known	74_37	silent	SNP	0.004	T	T	1463892	C	T	1463892	2	4	233	1	0	0	0	0	0	0	0	1	8912	639	23	1		1	LPCAT1	5	1463892	Silent	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		1463892	179451368	11	18850											
SYNPO	11346	genome.wustl.edu	37	chr5	150028887	150028887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcccagctccgaccccaaGtcttctcatctgaagggcca	7	16	3	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr5:150028887G>A	ENST00000394243.1	+	3	2156	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	SYNPO_ENST00000522122.1_Silent_p.K594K|SYNPO_ENST00000519664.1_Silent_p.K350K|SYNPO_ENST00000307662.4_Silent_p.K350K	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	594					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGACCCCAAGTCTTCTCATC	0.602																																																	0								ENSG00000171992						69	73	71					5																	150028887		2203	4300	6503	SYNPO	SO:0001819	synonymous_variant	0			-	HGNC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1782G>A	5.37:g.150028887G>A		Somatic	0	42	0		0.727400221219537	127	24.85	42	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	34	38.18	A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP							NULL	p.K594	ENST00000394243.1	37	c.1782	CCDS54937.1	5																																																																																			-	NULL		0.602	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	protein_coding	OTTHUMT00000252371.1	G	NM_007286	-		150028887	1	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	SNP	0.235	A	A	150028887	G	A	150028887	2	1	233	1	0	0	0	0	0	0	0	1	15463	1020	36	2		2	SYNPO	5	150028887	Silent	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	148564995	150028887	30886373	12	18851											
COL11A2	1302	genome.wustl.edu	37	chr6	33133463	33133463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagatctcctccagccccCcaggactgccgggggctccc	10	19	1	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr6:33133463C>T	ENST00000374708.4	-	61	4613	c.4355G>A	c.(4354-4356)gGg>gAg	p.G1452E	COL11A2_ENST00000395197.1_Missense_Mutation_p.G1478E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1457E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1491E|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1538E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1517E|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1431E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1512E	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1538	Collagen-like 8.|Triple-helical 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)			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						CTCCAGCCCCCCAGGACTGCC	0.652																																					Melanoma(1;90 116 3946 5341 17093)												0								ENSG00000204248						52	54	53					6																	33133463		2203	4300	6503	COL11A2	SO:0001583	missense	0			-	HGNC	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	ENST00000374708.4:c.4355G>A	6.37:g.33133463C>T	ENSP00000363840:p.Gly1452Glu	Somatic	0	33	0		0.727400221219537	3	25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP							pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1538E	ENST00000374708.4	37	c.4613	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943315	0.18281	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	D;D;D;D;D;D;D;D	0.88277	-2.3;-2.2;-2.26;-2.28;-2.25;-2.25;-2.36;-2.27	4.4	1.51	0.23008	.	0.268004	0.35805	N	0.002964	T	0.42131	0.1189	N	0.03050	-0.425	0.27378	N	0.955499	B;B;B;B	0.20780	0.048;0.0;0.0;0.0	B;B;B;B	0.20184	0.028;0.001;0.001;0.0	T	0.52094	-0.8621	10	0.02654	T	1	.	4.8192	0.13381	0.0:0.4456:0.3548:0.1995	.	134;1431;1452;1538	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	E	1452;1538;1517;1512;1491;1478;1457;1431;108	ENSP00000363840:G1452E;ENSP00000339915:G1538E;ENSP00000350079:G1517E;ENSP00000363846:G1512E;ENSP00000363845:G1491E;ENSP00000378623:G1478E;ENSP00000363844:G1457E;ENSP00000355123:G1431E	ENSP00000339915:G1538E	G	-	2	0	COL11A2	33241441	0.874000	0.30092	0.993000	0.49108	0.818000	0.46254	2.611000	0.46334	0.106000	0.17784	-0.269000	0.10298	GGG	-	NULL		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	protein_coding	OTTHUMT00000076032.2	C		-		33133463	-1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	SNP	1.000	T	T	33133463	C	T	33133463	3	4	233	1	0	0	0	0	1	0	0	0	3670	623	22	2	613	2	COL11A2	6	33133463	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		33133463	137981604	13	18852											
GPR115	221393	genome.wustl.edu	37	chr6	47681828	47681828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcaagagctaaggaagCtgtggccaaatgcatcccaa	11	11	0	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr6:47681828C>T	ENST00000283303.2	+	6	1105	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	GPR115_ENST00000327753.3_Silent_p.L283L|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Silent_p.L340L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	283					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						GCTAAGGAAGCTGTGGCCAAA	0.463																																					GBM(22;431 510 9010 26644 32828)												0								ENSG00000153294						55	57	56					6																	47681828		2203	4300	6503	GPR115	SO:0001819	synonymous_variant	0			-	HGNC	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.847C>T	6.37:g.47681828C>T		Somatic	0	43	0		0.727400221219537	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.00	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.L340	ENST00000283303.2	37	c.1018	CCDS4922.2	6																																																																																			-	NULL		0.463	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	C	NM_153838	-		47681828	1	no_errors	ENST00000371220	ensembl	human	known	74_37	silent	SNP	0.803	T	T	47681828	C	T	47681828	2	4	233	1	0	0	0	0	0	0	0	1	6634	796	28	2		2	GPR115	6	47681828	Silent	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	14548365	47681828	123433239	14	18853											
GABRR1	2569	genome.wustl.edu	37	chr6	89895101	89895101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgggagagtgagatccGttcatctgtctttaaggagt	13	6	3	2	rs200602822		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr6:89895101G>A	ENST00000454853.2	-	7	834	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	GABRR1_ENST00000369451.3_Missense_Mutation_p.R155W|GABRR1_ENST00000435811.1_Missense_Mutation_p.R225W	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	242					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)			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)	AGTGAGATCCGTTCATCTGTC	0.483																																																	0								ENSG00000146276	G	TRP/ARG	0,4406		0,0,2203	261	233	243		724	1.9	1	6		243	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRR1	NM_002042.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	242/480	89895101	1,13005	2203	4300	6503	GABRR1	SO:0001583	missense	0			-	HGNC		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.724C>T	6.37:g.89895101G>A	ENSP00000412673:p.Arg242Trp	Somatic	0	55	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	42	38.24	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.R242W	ENST00000454853.2	37	c.724	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968378	0.74131	0.0	1.16E-4	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.79749	-1.3;-1.3;-1.3	5.36	1.9	0.25705	Neurotransmitter-gated ion-channel ligand-binding (3);	0.042253	0.85682	D	0.000000	T	0.81955	0.4932	L	0.59436	1.845	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	T	0.81468	-0.0919	9	.	.	.	-27.4247	13.3176	0.60415	0.0:0.0:0.2914:0.7086	.	225;242	P24046-2;P24046	.;GBRR1_HUMAN	W	242;225;155;155	ENSP00000412673:R242W;ENSP00000394687:R225W;ENSP00000358463:R155W	.	R	-	1	2	GABRR1	89951820	0.988000	0.35896	1.000000	0.80357	0.890000	0.51754	0.393000	0.20817	0.672000	0.31204	0.561000	0.74099	CGG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.483	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	G		rs200602822		89895101	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	SNP	1.000	A	A	89895101	G	A	89895101	3	1	233	1	0	0	0	0	1	0	0	0	6178	1144	40	1	731	1	GABRR1	6	89895101	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	42213273	89895101	81219966	15	18854											
KIF25	3834	genome.wustl.edu	37	chr6	168443353	168443353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccgtggccatgccccGtaccggaacagcaggctcac	12	16	1	0	rs147561163		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr6:168443353G>A	ENST00000443060.2	+	9	1333	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_ENST00000354419.2_Silent_p.P314P|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)						ENSG00000125337	G	,	0,4406		0,0,2203	112	107	109		,942	-8.2	0	6	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	,314/385	168443353	3,13003	2203	4300	6503	KIF25	SO:0001819	synonymous_variant	0			-	HGNC	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.942G>A	6.37:g.168443353G>A		Somatic	0	51	0		0.727400221219537	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	50	43.18	O94775|Q5SZU9	Silent	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P314	ENST00000443060.2	37	c.942	CCDS5305.1	6																																																																																			-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25	protein_coding	OTTHUMT00000362509.1	G		rs147561163		168443353	1	no_errors	ENST00000354419	ensembl	human	known	74_37	silent	SNP	0.157	A	A	168443353	G	A	168443353	2	1	233	1	0	0	0	0	0	0	0	1	8295	1132	40	1		1	KIF25	6	168443353	Silent	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	78548252	168443353	2671714	16	18855											
NPC1L1	29881	genome.wustl.edu	37	chr7	44578866	44578866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagctccacggggtccGtagtgagttctgtaaagacc	11	12	1	2			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr7:44578866G>A	ENST00000289547.4	-	2	1185	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	NPC1L1_ENST00000546276.1_Missense_Mutation_p.T377M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.T377M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.T377M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	377					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACGGGGTCCGTAGTGAGTTC	0.612																																																	0								ENSG00000015520						72	81	78					7																	44578866		2203	4300	6503	NPC1L1	SO:0001583	missense	0			-	HGNC		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1130C>T	7.37:g.44578866G>A	ENSP00000289547:p.Thr377Met	Somatic	0	43	0		0.727400221219537	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.T377M	ENST00000289547.4	37	c.1130	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	g	13.80	2.344049	0.41498	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.05	4.17	0.49024	.	0.054204	0.64402	N	0.000001	D	0.94013	0.8082	M	0.77406	2.37	0.48632	D	0.999689	P;P;P;D	0.56035	0.921;0.908;0.939;0.974	P;B;P;B	0.49683	0.502;0.438;0.619;0.199	D	0.93660	0.6981	10	0.72032	D	0.01	-12.9165	11.2932	0.49263	0.0902:0.0:0.9098:0.0	.	377;377;377;377	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	M	377	ENSP00000289547:T377M;ENSP00000370552:T377M;ENSP00000438033:T377M;ENSP00000404670:T377M	ENSP00000289547:T377M	T	-	2	0	NPC1L1	44545391	1.000000	0.71417	0.819000	0.32651	0.180000	0.23129	7.455000	0.80726	1.129000	0.42072	0.462000	0.41574	ACG	-	NULL		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	protein_coding	OTTHUMT00000251256.1	G	NM_013389	-		44578866	-1	no_errors	ENST00000289547	ensembl	human	known	74_37	missense	SNP	0.997	A	A	44578866	G	A	44578866	3	1	233	1	0	0	0	0	1	0	0	0	10573	1145	40	1	3025	1	NPC1L1	7	44578866	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09		44578866	114559797	17	18856											
ABCB4	5244	genome.wustl.edu	37	chr7	87069600	87069600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttacatttccacggccaTaacaaatattttcagcaatt	5	9	1	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr7:87069600T>C	ENST00000265723.4	-	13	1586	c.1475A>G	c.(1474-1476)tAt>tGt	p.Y492C	ABCB4_ENST00000359206.3_Missense_Mutation_p.Y492C|ABCB4_ENST00000453593.1_Missense_Mutation_p.Y492C|ABCB4_ENST00000545634.1_Missense_Mutation_p.Y492C|ABCB4_ENST00000358400.3_Missense_Mutation_p.Y492C	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	492	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCCACGGCCATAACAAATATT	0.403																																																	0								ENSG00000005471						102	101	102					7																	87069600		2203	4300	6503	ABCB4	SO:0001583	missense	0			-	HGNC	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1475A>G	7.37:g.87069600T>C	ENSP00000265723:p.Tyr492Cys	Somatic	0	69	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	57	38.04	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP							pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y492C	ENST00000265723.4	37	c.1475	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667532	0.67814	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.119656	0.64402	D	0.000016	D	0.94843	0.8334	M	0.71206	2.165	0.58432	D	0.999998	D;P;P	0.89917	1.0;0.749;0.789	D;P;P	0.83275	0.996;0.654;0.766	D	0.95326	0.8425	10	0.87932	D	0	-3.6682	16.0241	0.80528	0.0:0.0:0.0:1.0	.	492;492;492	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	C	492	ENSP00000352135:Y492C;ENSP00000351172:Y492C;ENSP00000265723:Y492C;ENSP00000392983:Y492C;ENSP00000437465:Y492C	ENSP00000265723:Y492C	Y	-	2	0	ABCB4	86907536	1.000000	0.71417	0.971000	0.41717	0.648000	0.38561	4.059000	0.57470	2.164000	0.68074	0.528000	0.53228	TAT	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.403	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	protein_coding	OTTHUMT00000336083.1	T	NM_000443	-		87069600	-1	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	SNP	1.000	C	C	87069600	T	C	87069600	3	2	233	1	0	0	0	0	1	0	0	0	43	1406	49	5	2449	5	ABCB4	7	87069600	Missense_Mutation	SNP	T	TCGA-X6-A7WD-01A-21D-A351-09	42490734	87069600	72069063	18	18857											
NPTX2	4885	genome.wustl.edu	37	chr7	98249052	98249052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagaggcagcttctgcGcaaggtggcagagctggagg	19	8	1	2			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr7:98249052G>A	ENST00000265634.3	+	2	689	c.524G>A	c.(523-525)cGc>cAc	p.R175H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	175					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCTTCTGCGCAAGGTGGCA	0.647																																																	0								ENSG00000106236						34	38	36					7																	98249052		2201	4296	6497	NPTX2	SO:0001583	missense	0			-	HGNC		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.524G>A	7.37:g.98249052G>A	ENSP00000265634:p.Arg175His	Somatic	0	45	0		0.727400221219537	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	33	40.35	A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP							pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.R175H	ENST00000265634.3	37	c.524	CCDS5657.1	7	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492955	0.44352	.	.	ENSG00000106236	ENST00000265634	T	0.10960	2.82	4.81	-0.597	0.11653	.	0.398779	0.28560	N	0.014903	T	0.06325	0.0163	L	0.29908	0.895	0.26713	N	0.970938	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	10	0.39692	T	0.17	-2.283	4.9497	0.14008	0.3071:0.2653:0.4276:0.0	.	175	P47972	NPTX2_HUMAN	H	175	ENSP00000265634:R175H	ENSP00000265634:R175H	R	+	2	0	NPTX2	98086988	0.988000	0.35896	0.994000	0.49952	0.972000	0.66771	1.970000	0.40520	-0.119000	0.11830	-0.189000	0.12847	CGC	-	NULL		0.647	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	protein_coding	OTTHUMT00000334982.1	G	NM_002523	-		98249052	1	no_errors	ENST00000265634	ensembl	human	known	74_37	missense	SNP	0.689	A	A	98249052	G	A	98249052	3	1	233	1	0	0	0	0	1	0	0	0	10605	1087	38	1	530	1	NPTX2	7	98249052	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	11179452	98249052	60889611	19	18858											
SGK223	157285	genome.wustl.edu	37	chr8	8235488	8235488	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcaggggaggtagagggaCcagcaggcttctgtacacct	14	10	2	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr8:8235488C>G	ENST00000520004.1	-	3	695	c.431G>C	c.(430-432)gGt>gCt	p.G144A	SGK223_ENST00000330777.4_Missense_Mutation_p.G144A			Q86YV5	SG223_HUMAN		144							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTAGAGGGACCAGCAGGCTT	0.632																																					GBM(34;731 755 10259 33573 33867)												0								ENSG00000182319						66	70	69					8																	8235488		2003	4177	6180	SGK223	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000520004.1:c.431G>C	8.37:g.8235488C>G	ENSP00000428054:p.Gly144Ala	Somatic	0	60	0		0.727400221219537	5	28.57	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	65	41.44	Q8N3N5	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.G144A	ENST00000520004.1	37	c.431	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	0.796	-0.757095	0.03019	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58060	0.36;0.36	5.01	3.12	0.35913	.	0.663946	0.12442	N	0.468629	T	0.40297	0.1111	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.22487	-1.0215	10	0.25751	T	0.34	.	11.9911	0.53176	0.0:0.6637:0.3363:0.0	.	144	Q86YV5	SG223_HUMAN	A	144	ENSP00000330930:G144A;ENSP00000428054:G144A	ENSP00000330930:G144A	G	-	2	0	AC068353.1	8272898	0.005000	0.15991	0.004000	0.12327	0.028000	0.11728	0.940000	0.28992	0.700000	0.31782	0.655000	0.94253	GGT	-	NULL		0.632	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	protein_coding	OTTHUMT00000374864.1	C		-		8235488	-1	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	SNP	0.007	G	G	8235488	C	G	8235488	3	3	233	1	0	0	0	0	1	0	0	0	14218	507	18	4	3793	4	SGK223	8	8235488	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		8235488	138128534	20	18859											
PENK	5179	genome.wustl.edu	37	chr8	57353842	57353842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagatattaaaatctcaTaaatcctccgtatctttttt	3	7	2	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr8:57353842T>C	ENST00000314922.3	-	2	869	c.793A>G	c.(793-795)Atg>Gtg	p.M265V	PENK_ENST00000451791.2_Missense_Mutation_p.M265V|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	265					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TAAAATCTCATAAATCCTCCG	0.478																																																	0								ENSG00000181195						77	87	84					8																	57353842		2203	4300	6503	PENK	SO:0001583	missense	0			-	HGNC		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.793A>G	8.37:g.57353842T>C	ENSP00000324248:p.Met265Val	Somatic	0	83	0		0.727400221219537	175	57.18	235	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	38.57	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP							pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.M265V	ENST00000314922.3	37	c.793	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222564	0.79464	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.76060	-0.99;-0.99	5.71	5.71	0.89125	.	0.035223	0.85682	D	0.000000	D	0.82421	0.5033	M	0.69523	2.12	0.80722	D	1	D	0.69078	0.997	P	0.56700	0.804	D	0.84873	0.0826	10	0.87932	D	0	-21.2085	15.1681	0.72846	0.0:0.0:0.0:1.0	.	265	P01210	PENK_HUMAN	V	265	ENSP00000324248:M265V;ENSP00000400894:M265V	ENSP00000324248:M265V	M	-	1	0	PENK	57516396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.954000	0.76001	2.171000	0.68590	0.533000	0.62120	ATG	-	NULL		0.478	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	protein_coding	OTTHUMT00000378645.1	T		-		57353842	-1	no_errors	ENST00000314922	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57353842	T	C	57353842	3	2	233	1	0	0	0	0	1	0	0	0	11729	1406	49	5	14	5	PENK	8	57353842	Missense_Mutation	SNP	T	TCGA-X6-A7WD-01A-21D-A351-09	49118354	57353842	89010180	21	18860											
CHD7	55636	genome.wustl.edu	37	chr8	61655261	61655261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgggataccaatggaaGttggcagttatccaaatatg	12	6	0	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr8:61655261G>T	ENST00000423902.2	+	2	1749	c.1270G>T	c.(1270-1272)Gtt>Ttt	p.V424F	CHD7_ENST00000524602.1_Missense_Mutation_p.V424F|CHD7_ENST00000525508.1_Missense_Mutation_p.V424F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	424	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCAATGGAAGTTGGCAGTTA	0.552																																																	0			GRCh37	CD060584	CHD7	D		ENSG00000171316						109	110	110					8																	61655261		2018	4170	6188	CHD7	SO:0001583	missense	0			-	HGNC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1270G>T	8.37:g.61655261G>T	ENSP00000392028:p.Val424Phe	Somatic	0	55	0		0.727400221219537	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	40	39.39	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V424F	ENST00000423902.2	37	c.1270	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815828	0.50527	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.83755	-1.76;1.38;-1.42	5.54	5.54	0.83059	.	0.000000	0.35179	N	0.003390	D	0.84028	0.5382	L	0.43152	1.355	0.51767	D	0.999933	D	0.61080	0.989	P	0.50825	0.651	T	0.83251	-0.0053	10	0.39692	T	0.17	-14.5643	19.486	0.95028	0.0:0.0:1.0:0.0	.	424	Q9P2D1	CHD7_HUMAN	F	424	ENSP00000392028:V424F;ENSP00000437061:V424F;ENSP00000436027:V424F	ENSP00000307304:V424F	V	+	1	0	CHD7	61817815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.204000	0.65180	2.628000	0.89032	0.563000	0.77884	GTT	-	NULL		0.552	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	G	XM_098762	-		61655261	1	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61655261	G	T	61655261	3	4	233	1	0	0	0	0	1	0	0	0	3332	1029	36	3	1272	3	CHD7	8	61655261	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	4301419	61655261	84708761	22	18861											
PDE7A	5150	genome.wustl.edu	37	chr8	66701116	66701116	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaaataaagatggcctaCcttagaggtgatccacttga	8	8	0	4			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr8:66701116C>T	ENST00000401827.3	-	2	582				PDE7A_ENST00000379419.4_Splice_Site|PDE7A_ENST00000396642.3_Intron	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AGATGGCCTACCTTAGAGGTG	0.378																																																	0								ENSG00000205268						111	101	104					8																	66701116		2203	4300	6503	PDE7A	SO:0001627	intron_variant	0			-	HGNC	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.139-6038G>A	8.37:g.66701116C>T		Somatic	0	47	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	26	49.02	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Splice_Site	SNP							-	e1+1	ENST00000401827.3	37	c.60+1	CCDS56538.1	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960456	0.74016	.	.	ENSG00000205268	ENST00000379419;ENST00000523253	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2998	0.94140	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE7A	66863670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.508000	0.67006	2.866000	0.98385	0.650000	0.86243	.	-	-		0.378	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7A	protein_coding	OTTHUMT00000378905.1	C		-		66701116	-1	no_errors	ENST00000379419	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	66701116	C	T	66701116	1	4	233	0	1	0	0	0	0	0	0	0	11653	521	18	2		2	PDE7A	8	66701116	Intron	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	5045855	66701116	79662906	23	18862											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100092984	100092984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggaggaggaggagAagctggaggaagagaaggag	22	1	0	3	rs201085376		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr9:100092984A>G	ENST00000357054.1	+	32	3693	c.2758A>G	c.(2758-2760)Aag>Gag	p.K920E	CCDC180_ENST00000375202.2_Missense_Mutation_p.K781E|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.K778E|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.K781E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	920	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ggaggaggagaagctggagga	0.498																																																	0								ENSG00000197816						64	76	72					9																	100092984		2203	4300	6503	CCDC180	SO:0001583	missense	0			-	HGNC	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.2758A>G	9.37:g.100092984A>G	ENSP00000349562:p.Lys920Glu	Somatic	0	27	0		0.727400221219537	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP							NULL	p.K781E	ENST00000357054.1	37	c.2341		9	.	.	.	.	.	.	.	.	.	.	A	1.674	-0.508279	0.04231	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.08008	3.46;3.14;3.46;3.14	1.9	0.972	0.19704	.	1.506390	0.04483	N	0.378176	T	0.04227	0.0117	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.37220	-0.9715	10	0.06757	T	0.87	2.8577	4.1072	0.10041	0.2217:0.0:0.7783:0.0	.	804;778;920;781;920	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	E	920;781;778;804;781	ENSP00000349562:K920E;ENSP00000364348:K781E;ENSP00000414000:K778E;ENSP00000434727:K781E	ENSP00000349562:K920E	K	+	1	0	C9orf174	99132805	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.421000	0.07053	0.367000	0.24454	-0.394000	0.06481	AAG	-	NULL		0.498	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	protein_coding		A	NM_020893	rs201085376		100092984	1	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	SNP	0.004	G	G	100092984	A	G	100092984	3	3	233	1	0	0	0	0	1	0	0	0	8242	247	9	5	2840	5	KIAA1529	9	100092984	Missense_Mutation	SNP	A	TCGA-X6-A7WD-01A-21D-A351-09		100092984	41120447	24	18863											
GFI1B	8328	genome.wustl.edu	37	chr9	135863692	135863692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccttggccacaacctatgGccacagctaccggcaggccc	9	18	0	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr9:135863692G>T	ENST00000339463.3	+	8	1166	c.347G>T	c.(346-348)gGc>gTc	p.G116V	GFI1B_ENST00000372122.1_Missense_Mutation_p.G116V|GFI1B_ENST00000450530.1_Missense_Mutation_p.G116V|GFI1B_ENST00000534944.1_Missense_Mutation_p.G116V|GFI1B_ENST00000372123.1_Missense_Mutation_p.G116V|GFI1B_ENST00000372124.1_Missense_Mutation_p.G116V			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	116	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACAACCTATGGCCACAGCTAC	0.627																																																	0								ENSG00000165702						104	86	92					9																	135863692		2203	4300	6503	GFI1B	SO:0001583	missense	0			-	HGNC	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.347G>T	9.37:g.135863692G>T	ENSP00000344782:p.Gly116Val	Somatic	0	81	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	86	30.40	O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G116V	ENST00000339463.3	37	c.347	CCDS6957.1	9	.	.	.	.	.	.	.	.	.	.	G	7.929	0.740297	0.15642	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08984	3.15;3.03;3.03;3.15;3.15;3.03	4.35	4.35	0.52113	.	0.498085	0.21951	N	0.066730	T	0.11836	0.0288	M	0.62723	1.935	0.32025	N	0.60027	B;B	0.21309	0.054;0.037	B;B	0.23574	0.047;0.015	T	0.02064	-1.1220	10	0.59425	D	0.04	-17.3413	12.2344	0.54508	0.0:0.0:1.0:0.0	.	116;116	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	V	116	ENSP00000361197:G116V;ENSP00000344782:G116V;ENSP00000409546:G116V;ENSP00000446134:G116V;ENSP00000361196:G116V;ENSP00000361195:G116V	ENSP00000344782:G116V	G	+	2	0	GFI1B	134853513	0.965000	0.33210	0.471000	0.27229	0.309000	0.27889	2.584000	0.46102	2.218000	0.71995	0.563000	0.77884	GGC	-	NULL		0.627	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GFI1B	protein_coding	OTTHUMT00000393840.1	G	NM_004188	-		135863692	1	no_errors	ENST00000339463	ensembl	human	known	74_37	missense	SNP	0.417	T	T	135863692	G	T	135863692	3	4	233	1	0	0	0	0	1	0	0	0	6342	1203	42	3	357	3	GFI1B	9	135863692	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	35770708	135863692	5349739	25	18864											
NEBL	10529	genome.wustl.edu	37	chr10	21129758	21129758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccttttatctcattttcCaaatcttttttatattcttt	0	9	3	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr10:21129758C>T	ENST00000377122.4	-	13	1644	c.1248G>A	c.(1246-1248)ttG>ttA	p.L416L	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	416					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTCATTTTCCAAATCTTTTT	0.343																																																	0								ENSG00000078114						95	90	92					10																	21129758		2203	4300	6503	NEBL	SO:0001819	synonymous_variant	0			-	HGNC	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1248G>A	10.37:g.21129758C>T		Somatic	0	22	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	3	82.35	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP							pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.L416	ENST00000377122.4	37	c.1248	CCDS7134.1	10																																																																																			-	smart_Nebulin_35r-motif		0.343	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	protein_coding	OTTHUMT00000047113.1	C	NM_006393	-		21129758	-1	no_errors	ENST00000377122	ensembl	human	known	74_37	silent	SNP	1.000	T	T	21129758	C	T	21129758	2	4	233	1	0	0	0	0	0	0	0	1	10305	593	21	2		2	NEBL	10	21129758	Silent	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		21129758	114404989	26	18865											
SYT8	90019	genome.wustl.edu	37	chr11	1856623	1856623	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgctgccgccgccacagGaagaagcccagggacaagga	14	13	0	1	rs540038185		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr11:1856623G>A	ENST00000381968.3	+	3	362	c.234G>A	c.(232-234)agG>agA	p.R78R	SYT8_ENST00000535046.1_Silent_p.R216R|SYT8_ENST00000436964.2_Silent_p.R64R|SYT8_ENST00000341958.3_Silent_p.R64R	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	78					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCGCCACAGGAAGAAGCCCA	0.701																																																	0								ENSG00000149043						16	18	17					11																	1856623		2190	4284	6474	SYT8	SO:0001819	synonymous_variant	0			-	HGNC	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"Synaptotagmins"	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.234G>A	11.37:g.1856623G>A		Somatic	0	36	0		0.727400221219537	2	33.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	37	39.34	A6NFJ4|Q9NSV9	Missense_Mutation	SNP							NULL	p.G70E	ENST00000381968.3	37	c.209	CCDS7726.2	11	.	.	.	.	.	.	.	.	.	.	g	4.688	0.127884	0.08981	.	.	ENSG00000149043	ENST00000381978	.	.	.	3.34	2.4	0.29515	.	.	.	.	.	T	0.33000	0.0848	.	.	.	0.27866	N	0.940201	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	6.94	0.24488	0.0:0.2081:0.6044:0.1875	.	.	.	.	K	77	.	.	E	+	1	0	SYT8	1813199	0.261000	0.24063	0.059000	0.19551	0.333000	0.28666	0.298000	0.19120	0.741000	0.32674	0.305000	0.20034	GAA	-	NULL		0.701	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	protein_coding	OTTHUMT00000025013.4	G		-		1856623	1	no_errors	ENST00000424556	ensembl	human	known	74_37	missense	SNP	0.140	A	A	1856623	G	A	1856623	2	1	233	1	0	0	0	0	0	0	0	1	15487	1165	41	2		2	SYT8	11	1856623	Silent	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09		1856623	133149893	27	18866											
OR9G4	283189	genome.wustl.edu	37	chr11	56510853	56510853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggtacctgaataaagCaatgggttacaaattgctgc	10	7	0	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr11:56510853C>T	ENST00000302957.3	-	1	434	c.435G>A	c.(433-435)ttG>ttA	p.L145L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	145						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)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTGAATAAAGCAATGGGTTAC	0.488																																																	0								ENSG00000172457						114	118	117					11																	56510853		2201	4296	6497	OR9G4	SO:0001819	synonymous_variant	0			-	HGNC	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.435G>A	11.37:g.56510853C>T		Somatic	0	52	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	34.85	Q6IF62|Q96RA9	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L145	ENST00000302957.3	37	c.435	CCDS31537.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G4	protein_coding	OTTHUMT00000391945.1	C	NM_001005284	-		56510853	-1	no_errors	ENST00000302957	ensembl	human	known	74_37	silent	SNP	0.000	T	T	56510853	C	T	56510853	2	4	233	1	0	0	0	0	0	0	0	1	11253	709	25	2		2	OR9G4	11	56510853	Silent	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	54654230	56510853	78495663	28	18867											
OR10Q1	219960	genome.wustl.edu	37	chr11	57996303	57996303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgcacggaacacaaaCtcagtgggctcagactggtt	12	10	2	2			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr11:57996303C>A	ENST00000316770.2	-	1	87	c.45G>T	c.(43-45)gaG>gaT	p.E15D		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, 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)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGAACACAAACTCAGTGGGCT	0.488																																																	0								ENSG00000180475						126	132	130					11																	57996303		2165	4267	6432	OR10Q1	SO:0001583	missense	0			-	HGNC	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.45G>T	11.37:g.57996303C>A	ENSP00000314324:p.Glu15Asp	Somatic	0	41	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	Q6IFG4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E15D	ENST00000316770.2	37	c.45	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317978	0.23994	.	.	ENSG00000180475	ENST00000316770	T	0.10860	2.83	4.71	0.242	0.15498	.	0.000000	0.42964	D	0.000631	T	0.10637	0.0260	L	0.50919	1.6	0.21064	N	0.999798	D	0.52996	0.957	P	0.46026	0.501	T	0.14980	-1.0453	10	0.54805	T	0.06	.	5.1394	0.14952	0.0:0.4448:0.3021:0.2531	.	15	Q8NGQ4	O10Q1_HUMAN	D	15	ENSP00000314324:E15D	ENSP00000314324:E15D	E	-	3	2	OR10Q1	57752879	0.439000	0.25610	0.068000	0.19968	0.008000	0.06430	0.075000	0.14686	0.173000	0.19788	-0.182000	0.12963	GAG	-	NULL		0.488	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	protein_coding	OTTHUMT00000394706.1	C	NM_001004471	-		57996303	-1	no_errors	ENST00000316770	ensembl	human	known	74_37	missense	SNP	0.807	A	A	57996303	C	A	57996303	3	1	233	1	0	0	0	0	1	0	0	0	10918	564	20	3	918	3	OR10Q1	11	57996303	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	1485450	57996303	77010213	29	18868											
GIF	2694	genome.wustl.edu	37	chr11	59603420	59603420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggtgtatatgacagtgaTgttagatgcagaggtggggc	16	3	0	4			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr11:59603420T>C	ENST00000257248.2	-	7	981	c.934A>G	c.(934-936)Atc>Gtc	p.I312V	GIF_ENST00000541311.1_Missense_Mutation_p.I287V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	312					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	ATGACAGTGATGTTAGATGCA	0.473																																					NSCLC(53;1139 1245 16872 38474 42853)												0								ENSG00000134812						172	169	170					11																	59603420		2201	4295	6496	GIF	SO:0001583	missense	0			-	HGNC	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.934A>G	11.37:g.59603420T>C	ENSP00000257248:p.Ile312Val	Somatic	0	39	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	56	38.46	B2RAN8|B4DVZ1	Missense_Mutation	SNP							pfam_Cbl-bd_transpt_euk	p.I312V	ENST00000257248.2	37	c.934	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	T	16.69	3.191869	0.58017	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.34472	1.36;1.36	4.89	4.89	0.63831	.	0.081519	0.50627	D	0.000102	T	0.46268	0.1384	M	0.78049	2.395	0.31015	N	0.71881	P	0.37158	0.585	P	0.45428	0.48	T	0.53265	-0.8463	10	0.29301	T	0.29	-35.1694	10.8166	0.46580	0.0:0.0:0.0:1.0	.	312	P27352	IF_HUMAN	V	312;287	ENSP00000257248:I312V;ENSP00000440427:I287V	ENSP00000257248:I312V	I	-	1	0	GIF	59359996	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	2.176000	0.42500	2.048000	0.60808	0.533000	0.62120	ATC	-	pfam_Cbl-bd_transpt_euk		0.473	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	protein_coding	OTTHUMT00000394497.1	T	NM_005142	-		59603420	-1	no_errors	ENST00000257248	ensembl	human	known	74_37	missense	SNP	0.997	C	C	59603420	T	C	59603420	3	2	233	1	0	0	0	0	1	0	0	0	6378	1464	51	5	331	5	GIF	11	59603420	Missense_Mutation	SNP	T	TCGA-X6-A7WD-01A-21D-A351-09	1607117	59603420	75403096	30	18869											
GRIA4	2893	genome.wustl.edu	37	chr11	105483056	105483056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactgcttttcgattagcaAtttttcttcataacaccagc	4	11	2	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr11:105483056A>G	ENST00000530497.1	+	2	142	c.142A>G	c.(142-144)Att>Gtt	p.I48V	GRIA4_ENST00000527669.1_Missense_Mutation_p.I48V|GRIA4_ENST00000428631.2_Missense_Mutation_p.I48V|GRIA4_ENST00000393127.2_Missense_Mutation_p.I48V|GRIA4_ENST00000525187.1_Missense_Mutation_p.I48V|GRIA4_ENST00000282499.5_Missense_Mutation_p.I48V|GRIA4_ENST00000393125.2_Missense_Mutation_p.I48V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	48					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCGATTAGCAATTTTTCTTCA	0.408																																																	0								ENSG00000152578						147	126	133					11																	105483056		2202	4299	6501	GRIA4	SO:0001583	missense	0			-	HGNC	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.142A>G	11.37:g.105483056A>G	ENSP00000435775:p.Ile48Val	Somatic	0	71	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	59	41.18	Q86XE8	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I48V	ENST00000530497.1	37	c.142	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	A	9.434	1.086385	0.20390	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.91	5.91	0.95273	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	T	0.68787	0.3039	N	0.01109	-1.01	0.80722	D	1	B;B;B;B;P	0.38863	0.003;0.002;0.012;0.015;0.65	B;B;B;B;P	0.51079	0.035;0.012;0.035;0.027;0.658	T	0.71457	-0.4587	10	0.02654	T	1	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	48;48;78;48;48	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	V	48	ENSP00000376833:I48V;ENSP00000282499:I48V;ENSP00000376835:I48V;ENSP00000415551:I48V;ENSP00000432443:I48V;ENSP00000435775:I48V;ENSP00000432180:I48V	ENSP00000282499:I48V	I	+	1	0	GRIA4	104988266	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	ATT	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	protein_coding	OTTHUMT00000388593.1	A		-		105483056	1	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	SNP	1.000	G	G	105483056	A	G	105483056	3	3	233	1	0	0	0	0	1	0	0	0	6772	101	4	5	148	5	GRIA4	11	105483056	Missense_Mutation	SNP	A	TCGA-X6-A7WD-01A-21D-A351-09	45879636	105483056	29523460	31	18870											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72051082	72051082	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccttccaaaacttttggCtgaacagcatattaaggaaa	7	8	0	2			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:72051082C>T	ENST00000378743.3	-	2	957		c.e2-1		ZFC3H1_ENST00000552037.1_Splice_Site|ZFC3H1_ENST00000548100.1_Splice_Site|ZFC3H1_ENST00000549407.1_Splice_Site	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						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						AAACTTTTGGCTGAACAGCAT	0.264																																																	0								ENSG00000133858						29	26	27					12																	72051082		1783	4059	5842	ZFC3H1	SO:0001630	splice_region_variant	0			-	HGNC	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.599-1G>A	12.37:g.72051082C>T		Somatic	0	27	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	SNP							-	e2-1	ENST00000378743.3	37	c.599-1	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853149	0.71719	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFC3H1	70337349	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.770000	0.68873	2.729000	0.93468	0.650000	0.86243	.	-	-		0.264	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	C	NM_144982	-	Intron	72051082	-1	no_errors	ENST00000378743	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	72051082	C	T	72051082	5	4	233	1	0	0	0	0	0	0	1	0	17640	811	28	2	5507	2	ZFC3H1	12	72051082	Splice_Site	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		72051082	61800813	32	18871											
GNPTAB	79158	genome.wustl.edu	37	chr12	102161854	102161856	+	In_Frame_Del	DEL	TAC	TAC	-													ccaatcgcaggctgaattatTacaagccttgtcacaatagc							TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	TAC	TAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:102161854_102161856delTAC	ENST00000299314.7	-	11	1629_1631	c.1367_1369delGTA	c.(1366-1371)tgtaat>tat	p.456_457CN>Y	GNPTAB_ENST00000549940.1_In_Frame_Del_p.456_457CN>Y|RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	456					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						GCTGAATTATTACAAGCCTTGTC	0.414																																																	0								ENSG00000111670																																			GNPTAB	SO:0001651	inframe_deletion	0				HGNC	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.1367_1369delGTA	12.37:g.102161854_102161856delTAC	ENSP00000299314:p.Cys456_Asn457delinsTyr	Somatic	0	73	0		0.727400221219537	38	30.91	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	63	31.52	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	In_Frame_Del	DEL							pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.CN456in_frame_delY	ENST00000299314.7	37	c.1369_1367	CCDS9088.1	12																																																																																			-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom		0.414	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	protein_coding	OTTHUMT00000409182.1	TAC				102161856	-1	no_errors	ENST00000299314	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	102161856	TAC	-	102161854	7	5	233	1	0	1	0	1	0	0	0	0	6547	1754	61	0	2445	0	GNPTAB	12	102161854	In_Frame_Del	DEL	TAC	TCGA-X6-A7WD-01A-21D-A351-09	30110772	102161854	31690041	33	18872											
SSH1	54434	genome.wustl.edu	37	chr12	109182324	109182324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcccagctcgtggagcgCggctggatcctggctctcct	16	14	1	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:109182324C>T	ENST00000326495.5	-	15	2683	c.2590G>A	c.(2590-2592)Gcg>Acg	p.A864T	SSH1_ENST00000360239.3_Missense_Mutation_p.A552T	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	864					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCGTGGAGCGCGGCTGGATCC	0.677																																																	0								ENSG00000084112						21	25	24					12																	109182324		2203	4298	6501	SSH1	SO:0001583	missense	0			-	HGNC	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2590G>A	12.37:g.109182324C>T	ENSP00000315713:p.Ala864Thr	Somatic	0	28	0		0.727400221219537	16	60	24	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A864T	ENST00000326495.5	37	c.2590	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	C	0.845	-0.740559	0.03088	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.11495	2.96;2.77	2.91	-0.476	0.12100	.	46.390500	0.00166	N	0.000000	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B	0.29862	0.102;0.259	B;B	0.25759	0.008;0.063	T	0.33445	-0.9868	10	0.18276	T	0.48	-0.0657	9.5786	0.39472	0.1139:0.5358:0.3504:0.0	.	864;552	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	T	552;864	ENSP00000353374:A552T;ENSP00000315713:A864T	ENSP00000315713:A864T	A	-	1	0	SSH1	107706453	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.025000	0.12413	0.085000	0.17107	0.655000	0.94253	GCG	-	NULL		0.677	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	protein_coding	OTTHUMT00000403724.1	C	NM_018984	-		109182324	-1	no_errors	ENST00000326495	ensembl	human	known	74_37	missense	SNP	0.000	T	T	109182324	C	T	109182324	3	4	233	1	0	0	0	0	1	0	0	0	15191	768	27	1	563	1	SSH1	12	109182324	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	7020470	109182324	24669571	34	18873											
ATP2A2	488	genome.wustl.edu	37	chr12	110770407	110770407	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctccccctacagatgttCattctggacagagtggaagg	11	11	3	2			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:110770407C>A	ENST00000539276.2	+	9	1210	c.1101C>A	c.(1099-1101)ttC>ttA	p.F367L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.F367L|ATP2A2_ENST00000395494.2_Missense_Mutation_p.F340L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	367					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						TACAGATGTTCATTCTGGACA	0.398																																																	0								ENSG00000174437						179	179	179					12																	110770407		2203	4300	6503	ATP2A2	SO:0001583	missense	0			-	HGNC		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.1101C>A	12.37:g.110770407C>A	ENSP00000440045:p.Phe367Leu	Somatic	0	88	0		0.727400221219537	304	38.18	189	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	48	36.84	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.F367L	ENST00000539276.2	37	c.1101	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.87|14.87	2.665088|2.665088	0.47677|0.47677	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.82167|.	-1.58;-1.58;-1.58|.	5.31|5.31	1.93|1.93	0.25924|0.25924	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.139598|.	0.64402|.	D|.	0.000002|.	T|T	0.56514|0.56514	0.1990|0.1990	L|L	0.54908|0.54908	1.71|1.71	0.49213|0.49213	D|D	0.999769|0.999769	B;B;B|.	0.20261|.	0.011;0.014;0.043|.	B;B;B|.	0.20955|.	0.027;0.011;0.032|.	T|T	0.50684|0.50684	-0.8799|-0.8799	10|5	0.44086|.	T|.	0.13|.	.|.	7.292|7.292	0.26372|0.26372	0.1285:0.6425:0.0:0.229|0.1285:0.6425:0.0:0.229	.|.	340;367;367|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	L|N	367;340;367|258	ENSP00000311186:F367L;ENSP00000378872:F340L;ENSP00000440045:F367L|.	ENSP00000311186:F367L|.	F|H	+|+	3|1	2|0	ATP2A2|ATP2A2	109254790|109254790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	1.024000|1.024000	0.30077|0.30077	0.708000|0.708000	0.31955|0.31955	0.460000|0.460000	0.39030|0.39030	TTC|CAT	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase		0.398	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	protein_coding	OTTHUMT00000403539.1	C	NM_001681	-		110770407	1	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	SNP	1.000	A	A	110770407	C	A	110770407	3	1	233	1	0	0	0	0	1	0	0	0	1137	825	29	3	1135	3	ATP2A2	12	110770407	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	1588083	110770407	23081488	35	18874											
TBX5	6910	genome.wustl.edu	37	chr12	114836461	114836461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaatgcgccccggtggCgggggagtctgggtgcacgt	17	12	1	0	rs374906778		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:114836461C>T	ENST00000310346.4	-	5	1093	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	TBX5_ENST00000405440.2_Missense_Mutation_p.A143T|TBX5_ENST00000349716.5_Missense_Mutation_p.A93T|TBX5_ENST00000526441.1_Missense_Mutation_p.A143T|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	143					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCCCGGTGGCGGGGGAGTCT	0.612																																					NSCLC(152;1358 1980 4050 23898 40356)												0			GRCh37	CI031925	TBX5	I		ENSG00000089225	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	59	49	52		427,277,427,427	4.6	0.8	12		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TBX5	NM_000192.3,NM_080717.2,NM_080718.1,NM_181486.1	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	143/519,93/469,143/350,143/519	114836461	1,13005	2203	4300	6503	TBX5	SO:0001583	missense	0			-	HGNC	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.427G>A	12.37:g.114836461C>T	ENSP00000309913:p.Ala143Thr	Somatic	0	42	0		0.727400221219537	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A143T	ENST00000310346.4	37	c.427	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709930	0.68730	0.0	1.16E-4	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.56	4.56	0.56223	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.80764	0.853;0.994	D	0.94057	0.7323	10	0.48119	T	0.1	.	17.8864	0.88856	0.0:1.0:0.0:0.0	.	143;143	Q99593-2;Q99593	.;TBX5_HUMAN	T	93;143;40;143;143	ENSP00000337723:A93T;ENSP00000309913:A143T;ENSP00000384152:A143T;ENSP00000433292:A143T	ENSP00000309913:A143T	A	-	1	0	TBX5	113320844	1.000000	0.71417	0.775000	0.31657	0.139000	0.21198	5.700000	0.68318	2.502000	0.84385	0.655000	0.94253	GCC	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.612	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	protein_coding	OTTHUMT00000388297.1	C	NM_080717	-		114836461	-1	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	SNP	0.998	T	T	114836461	C	T	114836461	3	4	233	1	0	0	0	0	1	0	0	0	15668	768	27	1	1216	1	TBX5	12	114836461	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	4066054	114836461	19015434	36	18875											
COQ5	84274	genome.wustl.edu	37	chr12	120942762	120942762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgtcctcctggtttcaGcacccgatgagcttcctgga	9	14	1	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:120942762G>A	ENST00000288532.6	-	5	746	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	Y_RNA_ENST00000410669.1_RNA|COQ5_ENST00000445328.2_Silent_p.L162L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	236					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTGGTTTCAGCACCCGATGA	0.473																																																	0								ENSG00000110871						111	90	97					12																	120942762		2203	4300	6503	COQ5	SO:0001819	synonymous_variant	0			-	HGNC	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.706C>T	12.37:g.120942762G>A		Somatic	0	63	0		0.727400221219537	31	53.73	36	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	24	45.45	B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP							pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.L236	ENST00000288532.6	37	c.706	CCDS31912.1	12																																																																																			-	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase		0.473	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	protein_coding	OTTHUMT00000403767.2	G	NM_032314	-		120942762	-1	no_errors	ENST00000288532	ensembl	human	known	74_37	silent	SNP	1.000	A	A	120942762	G	A	120942762	2	1	233	1	0	0	0	0	0	0	0	1	3750	962	34	2		2	COQ5	12	120942762	Silent	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	6106301	120942762	12909133	37	18876											
POLE	5426	genome.wustl.edu	37	chr12	133220026	133220026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaactgggccagagagcGcatctccaggtgctcaagag	14	11	2	3	rs528264567		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr12:133220026G>A	ENST00000320574.5	-	34	4454	c.4411C>T	c.(4411-4413)Cgc>Tgc	p.R1471C	POLE_ENST00000535270.1_Missense_Mutation_p.R1444C|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1471					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCCAGAGAGCGCATCTCCAGG	0.587								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0	0	5008	,	,		19796	0.001		0	False		,,,				2504	0																0								ENSG00000177084						138	132	134					12																	133220026		2203	4300	6503	POLE	SO:0001583	missense	0			-	HGNC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4411C>T	12.37:g.133220026G>A	ENSP00000322570:p.Arg1471Cys	Somatic	0	44	0		0.727400221219537	30	39.22	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	34	43.33	Q13533|Q86VH9	Missense_Mutation	SNP							pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.R1471C	ENST00000320574.5	37	c.4411	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059249	0.55325	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02974	4.09;4.09;4.09	5.71	5.71	0.89125	.	0.042915	0.85682	D	0.000000	T	0.04952	0.0133	L	0.52126	1.63	0.80722	D	1	B;B	0.24721	0.085;0.11	B;B	0.20577	0.03;0.008	T	0.43015	-0.9417	10	0.38643	T	0.18	.	18.1027	0.89510	0.0:0.0:1.0:0.0	.	1444;1471	F5H1D6;Q07864	.;DPOE1_HUMAN	C	1471;1482;1444	ENSP00000322570:R1471C;ENSP00000406383:R1482C;ENSP00000445753:R1444C	ENSP00000322570:R1471C	R	-	1	0	POLE	131730099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.716000	0.92895	0.650000	0.86243	CGC	-	NULL		0.587	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	protein_coding	OTTHUMT00000397689.2	G	NM_006231	-		133220026	-1	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	SNP	1.000	A	A	133220026	G	A	133220026	3	1	233	1	0	0	0	0	1	0	0	0	12198	1087	38	1	2513	1	POLE	12	133220026	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	12277264	133220026	631869	38	18877											
RB1	5925	genome.wustl.edu	37	chr13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgataaaacatttagaaCgatgtgaacatcgaatcatg	7	5	1	3	rs121913303		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr13:48955538C>T	ENST00000267163.4	+	17	1792	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R552*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CM961229	RB1	M	rs121913303	ENSG00000139687						85	79	81					13																	48955538		2203	4300	6503	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1654C>T	13.37:g.48955538C>T	ENSP00000267163:p.Arg552*	Somatic	0	48	0		0.727400221219537	8	55.56	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	11	70.27	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP							pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R552*	ENST00000267163.4	37	c.1654	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	7.055045	0.98032	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	1.21	0.21127	.	0.199610	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4955	0.38986	0.5195:0.4131:0.0:0.0674	.	.	.	.	X	531;552	.	ENSP00000267163:R552X	R	+	1	2	RB1	47853539	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	1.565000	0.36386	-0.113000	0.11958	0.650000	0.86243	CGA	-	pfam_RB_A,superfamily_Cyclin-like		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C		rs121913303		48955538	1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	48955538	C	T	48955538	4	4	233	1	0	0	0	0	0	1	0	0	13106	528	19	1	1720	1	RB1	13	48955538	Nonsense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		48955538	66214340	39	18878											
LRRC16B	90668	genome.wustl.edu	37	chr14	24525877	24525877	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctgcttcccctctggcctCaccaaactgtgcctggccaa	7	18	3	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr14:24525877C>T	ENST00000342740.5	+	12	1066	c.912C>T	c.(910-912)ctC>ctT	p.L304L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	304						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTCTGGCCTCACCAAACTGT	0.627																																																	0								ENSG00000186648						96	93	94					14																	24525877		2203	4300	6503	LRRC16B	SO:0001819	synonymous_variant	0			-	HGNC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.912C>T	14.37:g.24525877C>T		Somatic	0	52	0		0.727400221219537	0	100	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	40	41.18	Q8TEF7|Q96HS9	Silent	SNP							smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L304	ENST00000342740.5	37	c.912	CCDS32054.1	14																																																																																			-	NULL		0.627	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	protein_coding	OTTHUMT00000416527.1	C	NM_138360	-		24525877	1	no_errors	ENST00000342740	ensembl	human	known	74_37	silent	SNP	1.000	T	T	24525877	C	T	24525877	2	4	233	1	0	0	0	0	0	0	0	1	8974	813	29	2		2	LRRC16B	14	24525877	Silent	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		24525877	82823663	40	18879											
CHRNA5	1138	genome.wustl.edu	37	chr15	78873234	78873234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactacgaaagatgggttcGtcctgtggaacacctgaatg	12	8	0	3	rs202057419		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr15:78873234G>A	ENST00000299565.5	+	2	388	c.188G>A	c.(187-189)cGt>cAt	p.R63H	CHRNA5_ENST00000559554.1_Missense_Mutation_p.R63H	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	63					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AGATGGGTTCGTCCTGTGGAA	0.328																																																	0								ENSG00000169684						92	94	93					15																	78873234		2196	4293	6489	CHRNA5	SO:0001583	missense	0			-	HGNC		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.188G>A	15.37:g.78873234G>A	ENSP00000299565:p.Arg63His	Somatic	0	100	0		0.727400221219537	10	54.55	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	82	43.06	Q15824|Q99554	Missense_Mutation	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R63H	ENST00000299565.5	37	c.188	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.202410	0.94997	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.83250	-1.7	5.52	5.52	0.82312	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95534	0.8606	10	0.87932	D	0	.	19.4388	0.94809	0.0:0.0:1.0:0.0	.	63	P30532	ACHA5_HUMAN	H	63;14	ENSP00000299565:R63H	ENSP00000299565:R63H	R	+	2	0	CHRNA5	76660289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.848000	0.99507	2.590000	0.87494	0.655000	0.94253	CGT	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.328	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	protein_coding	OTTHUMT00000290106.1	G		rs202057419		78873234	1	no_errors	ENST00000299565	ensembl	human	known	74_37	missense	SNP	1.000	A	A	78873234	G	A	78873234	3	1	233	1	0	0	0	0	1	0	0	0	3388	1145	40	1	194	1	CHRNA5	15	78873234	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09		78873234	23658158	41	18880											
CACNA1H	8912	genome.wustl.edu	37	chr16	1270617	1270617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaggccacgcctcacAgggactccctggagcccaca	11	17	1	1			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr16:1270617A>T	ENST00000348261.5	+	35	6933	c.6685A>T	c.(6685-6687)Agg>Tgg	p.R2229W	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2223W|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2223W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2229					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CACGCCTCACAGGGACTCCCT	0.751																																																	0								ENSG00000196557						7	9	9					16																	1270617		1665	3778	5443	CACNA1H	SO:0001583	missense	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6685A>T	16.37:g.1270617A>T	ENSP00000334198:p.Arg2229Trp	Somatic	0	10	0		0.727400221219537	44	50.56	45	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	14	54.84	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R2229W	ENST00000348261.5	37	c.6685	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472847	0.43942	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	T;T	0.33865	1.39;1.39	4.39	4.39	0.52855	.	1.165150	0.06728	N	0.776053	T	0.42359	0.1199	N	0.22421	0.69	0.26550	N	0.973923	D;D;D;D;D	0.65815	0.992;0.988;0.995;0.973;0.975	P;P;P;P;P	0.57283	0.817;0.715;0.619;0.724;0.782	T	0.35251	-0.9796	10	0.87932	D	0	.	9.7802	0.40643	0.8124:0.1876:0.0:0.0	.	975;953;959;2223;2229	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	W	2229;2223	ENSP00000334198:R2229W;ENSP00000351401:R2223W	ENSP00000334198:R2229W	R	+	1	2	CACNA1H	1210618	1.000000	0.71417	0.997000	0.53966	0.609000	0.37215	1.800000	0.38833	1.835000	0.53391	0.477000	0.44152	AGG	-	NULL		0.751	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	A	NM_001005407	-		1270617	1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	SNP	0.989	T	T	1270617	A	T	1270617	3	4	233	1	0	0	0	0	1	0	0	0	2547	179	7	5	6819	5	CACNA1H	16	1270617	Missense_Mutation	SNP	A	TCGA-X6-A7WD-01A-21D-A351-09		1270617	89084136	42	18881											
PHKB	5257	genome.wustl.edu	37	chr16	47533690	47533690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcaacattgctgctgtatCaaagtccaactaccggtctc	7	12	3	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr16:47533690C>G	ENST00000323584.5	+	3	214	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	PHKB_ENST00000455779.1_Missense_Mutation_p.Q57E|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.Q57E|PHKB_ENST00000299167.8_Missense_Mutation_p.Q64E	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	64					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTGCTGTATCAAAGTCCAAC	0.473																																																	0								ENSG00000102893						164	158	160					16																	47533690		2201	4300	6501	PHKB	SO:0001583	missense	0			-	HGNC		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.190C>G	16.37:g.47533690C>G	ENSP00000313504:p.Gln64Glu	Somatic	0	96	0		0.727400221219537	19	38.71	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	65	35.00	Q8N4T5	Missense_Mutation	SNP							pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q64E	ENST00000323584.5	37	c.190	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.516089	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92965	-3.14;-3.14	5.81	5.81	0.92471	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.052713	0.85682	N	0.000000	D	0.97365	0.9138	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.992	D;D;D	0.91635	0.987;0.999;0.986	D	0.97774	1.0228	10	0.87932	D	0	-18.7238	20.0758	0.97742	0.0:1.0:0.0:0.0	.	57;64;57	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	E	57;57;64	ENSP00000414345:Q57E;ENSP00000313504:Q64E	ENSP00000299167:Q57E	Q	+	1	0	PHKB	46091191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.763000	0.85283	2.737000	0.93849	0.655000	0.94253	CAA	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.473	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	protein_coding	OTTHUMT00000430413.1	C		-		47533690	1	no_errors	ENST00000299167	ensembl	human	known	74_37	missense	SNP	1.000	G	G	47533690	C	G	47533690	3	3	233	1	0	0	0	0	1	0	0	0	11847	827	29	4	259	4	PHKB	16	47533690	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	46263073	47533690	42821063	43	18882											
ITGB1BP3	27231	genome.wustl.edu	37	chr19	3939924	3939924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacttgtacagccgccGgtacttcctgaccgtcccgt	12	14	0	1	rs140113877	byFrequency	TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr19:3939924G>A	ENST00000168977.2	+	6	640	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Missense_Mutation_p.R122Q	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	117					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TACAGCCGCCGGTACTTCCTG	0.602																																																	0								ENSG00000077009	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	66	54	58		350	3.7	0.9	19	dbSNP_134	58	3,8595	3.0+/-9.4	0,3,4296	no	missense	ITGB1BP3	NM_170678.2	43	0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	117/231	3939924	4,13000	2203	4299	6502	NMRK2	SO:0001583	missense	0			-	HGNC	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"muscle-specific beta 1 integrin binding protein", "nicotinamide riboside kinase 2"	608705	"integrin beta 1 binding protein 3"	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.350G>A	19.37:g.3939924G>A	ENSP00000168977:p.Arg117Gln	Somatic	0	76	0		0.727400221219537	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	76	22.45	B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP							superfamily_P-loop_NTPase	p.R117Q	ENST00000168977.2	37	c.350	CCDS12115.1	19	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249914	0.59212	2.27E-4	3.49E-4	ENSG00000077009	ENST00000168977	T	0.42513	0.97	3.74	3.74	0.42951	.	0.202519	0.41500	D	0.000875	T	0.44052	0.1275	M	0.71871	2.18	0.21105	N	0.99979	P;P	0.46656	0.882;0.636	B;B	0.43386	0.418;0.182	T	0.45644	-0.9247	10	0.54805	T	0.06	-31.6968	10.8954	0.47019	0.0:0.0:1.0:0.0	.	122;117	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	Q	117	ENSP00000168977:R117Q	ENSP00000168977:R117Q	R	+	2	0	ITGB1BP3	3890924	0.809000	0.29036	0.950000	0.38849	0.966000	0.64601	4.728000	0.62000	1.916000	0.55485	0.491000	0.48974	CGG	-	superfamily_P-loop_NTPase		0.602	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NMRK2	protein_coding	OTTHUMT00000457492.1	G	NM_014446, NM_170678	rs140113877		3939924	1	no_errors	ENST00000168977	ensembl	human	known	74_37	missense	SNP	0.594	A	A	3939924	G	A	3939924	3	1	233	1	0	0	0	0	1	0	0	0	7895	1116	39	1	368	1	ITGB1BP3	19	3939924	Missense_Mutation	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09		3939924	55189059	44	18883											
CD209	30835	genome.wustl.edu	37	chr19	7810620	7810620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagctcacccactgcagCcttcagccgagtcagctcct	9	16	3	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr19:7810620C>A	ENST00000315599.7	-	4	554	c.532G>T	c.(532-534)Gct>Tct	p.A178S	CD209_ENST00000601256.1_Missense_Mutation_p.A154S|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.A154S|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A178S|CD209_ENST00000593821.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.A154S|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.A154S|CD209_ENST00000204801.8_Missense_Mutation_p.A134S	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	178	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCACTGCAGCCTTCAGCCGA	0.547																																																	0								ENSG00000090659						104	102	103					19																	7810620		2191	4294	6485	CD209	SO:0001583	missense	0			-	HGNC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.532G>T	19.37:g.7810620C>A	ENSP00000315477:p.Ala178Ser	Somatic	0	152	0		0.727400221219537	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	76	117	39.38	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP							pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.A178S	ENST00000315599.7	37	c.532	CCDS12186.1	19	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447174	0.25987	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	0.461	-0.71	0.11234	.	.	.	.	.	T	0.37758	0.1015	M	0.74258	2.255	0.09310	N	1	D;D;P;D;P;B;P;D	0.67145	0.972;0.99;0.673;0.99;0.643;0.002;0.673;0.996	P;D;B;D;B;B;B;D	0.76071	0.866;0.98;0.193;0.971;0.364;0.029;0.148;0.987	T	0.22521	-1.0214	8	0.27785	T	0.31	.	.	.	.	.	178;154;134;154;178;154;154;178	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	S	178;178;154;134;162	ENSP00000315477:A178S;ENSP00000346373:A178S;ENSP00000315407:A154S;ENSP00000204801:A134S	ENSP00000204801:A134S	A	-	1	0	CD209	7716620	0.004000	0.15560	0.001000	0.08648	0.157000	0.22087	-0.286000	0.08399	-0.326000	0.08564	0.298000	0.19748	GCT	-	NULL		0.547	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD209	protein_coding	OTTHUMT00000462241.1	C	NM_021155	-		7810620	-1	no_errors	ENST00000315599	ensembl	human	known	74_37	missense	SNP	0.002	A	A	7810620	C	A	7810620	3	1	233	1	0	0	0	0	1	0	0	0	2986	739	26	3	698	3	CD209	19	7810620	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	3870696	7810620	51318363	45	18884											
DMKN	93099	genome.wustl.edu	37	chr19	36002412	36002412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccactgctgctgccactGctgctgccaccactgctgct	9	19	0	0	rs56743379|rs111543270		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr19:36002412G>A	ENST00000339686.3	-	5	995	c.819C>T	c.(817-819)agC>agT	p.S273S	DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000440396.1_Silent_p.S273S|DMKN_ENST00000424570.2_Silent_p.S273S|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000418261.1_Silent_p.S273S|DMKN_ENST00000451297.2_Silent_p.S273S|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000447113.2_Silent_p.S273S|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000429837.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			tgctgccactgctgctgccac	0.657																																																	1	Deletion - In frame(1)	ovary(1)						ENSG00000161249						29	22	24					19																	36002412		2184	4248	6432	DMKN	SO:0001819	synonymous_variant	0			-	HGNC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819C>T	19.37:g.36002412G>A		Somatic	0	49	0		0.727400221219537	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	53	14.52	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP							NULL	p.S273	ENST00000339686.3	37	c.819	CCDS12463.1	19																																																																																			-	NULL		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	protein_coding	OTTHUMT00000109461.2	G	NM_033317	rs140763085		36002412	-1	no_errors	ENST00000339686	ensembl	human	known	74_37	silent	SNP	0.000	A	A	36002412	G	A	36002412	2	1	233	1	0	0	0	0	0	0	0	1	4584	1310	46	2		2	DMKN	19	36002412	Silent	SNP	G	TCGA-X6-A7WD-01A-21D-A351-09	28191792	36002412	23126571	46	18885											
ZNF570	148268	genome.wustl.edu	37	chr19	37975446	37975446	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttacgaatgtaaggtatgtCgaaaagccttcagccagttt	9	8	1	0	rs200846017		TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr19:37975446C>A	ENST00000330173.1	+	5	1451	c.922C>A	c.(922-924)Cga>Aga	p.R308R	ZNF570_ENST00000388801.3_Silent_p.R105R|ZNF570_ENST00000586475.1_Silent_p.R364R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	308					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(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGTATGTCGAAAAGCCTT	0.428																																																	0								ENSG00000171827						88	82	84					19																	37975446		2203	4300	6503	ZNF570	SO:0001819	synonymous_variant	0			-	HGNC	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.922C>A	19.37:g.37975446C>A		Somatic	0	61	0		0.727400221219537	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	53	42.39	A1L472|B4DMP1	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R308	ENST00000330173.1	37	c.922	CCDS12504.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	protein_coding	OTTHUMT00000109600.1	C	NM_144694	-		37975446	1	no_errors	ENST00000330173	ensembl	human	known	74_37	silent	SNP	1.000	A	A	37975446	C	A	37975446	2	1	233	1	0	0	0	0	0	0	0	1	18009	876	31	3		3	ZNF570	19	37975446	Silent	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09	1973034	37975446	21153537	47	18886											
UBE2G2	7327	genome.wustl.edu	37	chr21	46193533	46193533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccaccgctccgcgctgCtctcgtagcccatggggtca	11	17	2	0			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chr21:46193533C>T	ENST00000345496.2	-	5	584	c.314G>A	c.(313-315)aGc>aAc	p.S105N	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Missense_Mutation_p.S77N	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	105				MGYESSA -> HGLREQP (in Ref. 1; AAC32312). {ECO:0000305}.	ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CTCCGCGCTGCTCTCGTAGCC	0.632																																																	0								ENSG00000184787						83	61	68					21																	46193533		2203	4300	6503	UBE2G2	SO:0001583	missense	0			-	HGNC	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"Ubiquitin-conjugating enzymes E2"	12483	protein-coding gene	gene with protein product		603124	"ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)", "ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.314G>A	21.37:g.46193533C>T	ENSP00000338348:p.Ser105Asn	Somatic	0	40	0		0.727400221219537	103	50.24	104	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	23	58.18	A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S105N	ENST00000345496.2	37	c.314	CCDS13714.1	21	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947301	0.53186	.	.	ENSG00000184787	ENST00000345496;ENST00000330942	T;T	0.58506	0.33;1.92	5.51	5.51	0.81932	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.84326	2.69	0.80722	D	1	B	0.19706	0.038	B	0.28784	0.094	T	0.62053	-0.6935	10	0.17832	T	0.49	-11.4971	19.0088	0.92863	0.0:1.0:0.0:0.0	.	105	P60604	UB2G2_HUMAN	N	105;77	ENSP00000338348:S105N;ENSP00000331384:S77N	ENSP00000331384:S77N	S	-	2	0	UBE2G2	45017961	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.463000	0.80869	2.579000	0.87056	0.591000	0.81541	AGC	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.632	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2G2	protein_coding	OTTHUMT00000202647.2	C	NM_182688	-		46193533	-1	no_errors	ENST00000345496	ensembl	human	known	74_37	missense	SNP	1.000	T	T	46193533	C	T	46193533	3	4	233	1	0	0	0	0	1	0	0	0	16864	797	28	2	191	2	UBE2G2	21	46193533	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		46193533	1936362	48	18887											
DIAPH2	1730	genome.wustl.edu	37	chrX	96354765	96354765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaagaatgaatatgatgacCtctgtgagcctgaacaattt	8	6	1	6			TCGA-X6-A7WD-01A-21D-A351-09	TCGA-X6-A7WD-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4	91308f69-8b3e-4ceb-9754-926945ab8da8	g.chrX:96354765C>A	ENST00000324765.8	+	20	2667	c.2320C>A	c.(2320-2322)Ctc>Atc	p.L774I	DIAPH2_ENST00000373061.3_Missense_Mutation_p.L774I|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L770I|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L774I|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L774I			O60879	DIAP2_HUMAN	diaphanous-related formin 2	774	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)			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						ATATGATGACCTCTGTGAGCC	0.383																																																	0								ENSG00000147202						112	91	98					X																	96354765		2203	4300	6503	DIAPH2	SO:0001583	missense	0			-	HGNC	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.2320C>A	X.37:g.96354765C>A	ENSP00000321348:p.Leu774Ile	Somatic	0	42	0		0.727400221219537	3	90	27	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.L774I	ENST00000324765.8	37	c.2320	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568845	0.65765	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.21	5.21	0.72293	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000011	T	0.61899	0.2384	M	0.85630	2.765	0.42326	D	0.992271	D;D	0.59357	0.985;0.981	D;D	0.83275	0.996;0.993	T	0.67937	-0.5541	10	0.87932	D	0	.	10.2252	0.43220	0.0:0.9043:0.0:0.0957	.	774;774	O60879;O60879-2	DIAP2_HUMAN;.	I	774;770;774;774;774;781	ENSP00000362152:L774I;ENSP00000362145:L770I;ENSP00000348082:L774I;ENSP00000362140:L774I;ENSP00000321348:L774I	ENSP00000321348:L774I	L	+	1	0	DIAPH2	96241421	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.449000	0.44935	2.141000	0.66446	0.600000	0.82982	CTC	-	pfam_FH2_Formin,smart_FH2_Formin		0.383	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309	-		96354765	1	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	SNP	1.000	A	A	96354765	C	A	96354765	3	1	233	1	0	0	0	0	1	0	0	0	4521	681	24	3	2398	3	DIAPH2	23	96354765	Missense_Mutation	SNP	C	TCGA-X6-A7WD-01A-21D-A351-09		96354765	58915795	49	18888											
SLC2A7	155184	genome.wustl.edu	37	chr1	9070297	9070297	+	Frame_Shift_Del	DEL	G	G	-													ccgtcccagccgctccacaaGgacagcctggaggggaaggg							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:9070297delG	ENST00000400906.1	-	9	1020	c.1021delC	c.(1021-1023)cttfs	p.L341fs		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	341					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CGCTCCACAAGGACAGCCTGG	0.672																																																	0								ENSG00000197241						11	10	10					1																	9070297		2028	3970	5998	SLC2A7	SO:0001589	frameshift_variant	0				HGNC	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1021delC	1.37:g.9070297delG	ENSP00000383698:p.Leu341fs	Somatic	0	76	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	A2A333	Frame_Shift_Del	DEL							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.V342fs	ENST00000400906.1	37	c.1021	CCDS98.2	1																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.672	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	protein_coding	OTTHUMT00000127768.3	G	NM_207420			9070297	-1	no_errors	ENST00000400906	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	9070297	G	-	9070297	7	5	234	1	0	1	0	1	0	0	0	0	14558	1000	35	0	533	0	SLC2A7	1	9070297	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09		9070297	240180324	1	18889											
CSMD2	114784	genome.wustl.edu	37	chr1	34209082	34209082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatgtcgttgaaggccaGgtggatgcggctctcaggcc	15	10	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:34209082G>T	ENST00000373381.4	-	14	2148	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	618	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGAAGGCCAGGTGGATGCGG	0.607																																																	0								ENSG00000121904						83	84	83					1																	34209082		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1972C>A	1.37:g.34209082G>T	ENSP00000362479:p.Leu658Met	Somatic	0	90	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L658M	ENST00000373381.4	37	c.1972		1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937139	0.73557	.	.	ENSG00000121904	ENST00000373381	T	0.34072	1.38	5.58	3.69	0.42338	CUB (5);	0.000000	0.64402	D	0.000004	T	0.65933	0.2739	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73122	-0.4082	10	0.54805	T	0.06	.	11.7503	0.51845	0.203:0.0:0.797:0.0	.	618;658	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	658	ENSP00000362479:L658M	ENSP00000241312:L618M	L	-	1	2	CSMD2	33981669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.644000	0.46613	1.494000	0.48533	0.655000	0.94253	CTG	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		G	NM_052896	-		34209082	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	1.000	T	T	34209082	G	T	34209082	3	4	234	1	0	0	0	0	1	0	0	0	3947	991	35	3	8835	3	CSMD2	1	34209082	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	25138785	34209082	215041539	2	18890											
INPP5B	3633	genome.wustl.edu	37	chr1	38329987	38329987	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacatttggctgcttacctaGaatattctcatccaaatgat	6	9	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:38329987G>T	ENST00000373026.1	-	22	2863	c.2863C>A	c.(2863-2865)Cta>Ata	p.L955I	INPP5B_ENST00000373027.1_Missense_Mutation_p.L711I|INPP5B_ENST00000373024.3_Missense_Mutation_p.L875I|INPP5B_ENST00000373023.2_Missense_Mutation_p.L955I|RP11-109P14.10_ENST00000419993.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	955	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCTTACCTAGAATATTCTCA	0.413																																																	0								ENSG00000204084						66	57	60					1																	38329987		1825	4087	5912	INPP5B	SO:0001583	missense	0			-	HGNC	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2863C>A	1.37:g.38329987G>T	ENSP00000362117:p.Leu955Ile	Somatic	0	36	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L955I	ENST00000373026.1	37	c.2863		1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027567	0.54683	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.49	2.53	0.30540	.	0.233607	0.37437	N	0.002086	T	0.71264	0.3319	M	0.67569	2.06	0.80722	D	1	D	0.58970	0.984	P	0.54140	0.743	T	0.69610	-0.5099	10	0.32370	T	0.25	.	12.0224	0.53350	0.2009:0.0:0.7991:0.0	.	875	P32019-2	.	I	711;955;955;875	ENSP00000362118:L711I;ENSP00000362114:L955I;ENSP00000362117:L955I;ENSP00000362115:L875I	ENSP00000362114:L955I	L	-	1	2	INPP5B	38102574	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.483000	0.45233	0.779000	0.33543	-0.150000	0.13652	CTA	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.413	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	protein_coding	OTTHUMT00000012968.1	G	NM_005540	-		38329987	-1	no_errors	ENST00000373023	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38329987	G	T	38329987	3	4	234	1	0	0	0	0	1	0	0	0	7757	933	33	3	126	3	INPP5B	1	38329987	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	4120905	38329987	210920634	3	18891											
INPP5B	3633	genome.wustl.edu	37	chr1	38411475	38411476	+	Frame_Shift_Ins	INS	-	-	A													ggtagcgcacgagtcccaggINSaggcggctctgccggctgtc							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:38411475_38411476insA	ENST00000373026.1	-	2	104_105	c.104_105insT	c.(103-105)ctcfs	p.L35fs	INPP5B_ENST00000373024.3_Frame_Shift_Ins_p.L35fs|INPP5B_ENST00000373023.2_Frame_Shift_Ins_p.L35fs|INPP5B_ENST00000373021.1_Frame_Shift_Ins_p.L35fs			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	35	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGAGTCCCAGGAGGCGGCTCTG	0.668																																																	0								ENSG00000204084																																			INPP5B	SO:0001589	frameshift_variant	0				HGNC	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.105dupT	1.37:g.38411476_38411476dupA	ENSP00000362117:p.Leu35fs	Somatic	0	49	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Frame_Shift_Ins	INS							pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L36fs	ENST00000373026.1	37	c.105_104		1																																																																																			-	NULL		0.668	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	protein_coding	OTTHUMT00000012968.1	-	NM_005540			38411476	-1	no_errors	ENST00000373023	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	38411476	-	A	38411475	7	5	234	1	0	1	1	0	0	0	0	0	7757	1161	41	0	2724	0	INPP5B	1	38411475	Frame_Shift_Ins	INS	-	TCGA-X6-A8C2-01A-11D-A36J-09	81488	38411475	210839146	4	18892											
CDCP2	200008	genome.wustl.edu	37	chr1	54610408	54610408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagctgcactctgtgTtgtaggggtacagtctaggg	14	9	3	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:54610408T>G	ENST00000371330.1	-	2	1005	c.158A>C	c.(157-159)aAc>aCc	p.N53T	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	53	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCACTCTGTGTTGTAGGGGTA	0.567																																																	0								ENSG00000157211						81	65	70					1																	54610408		2203	4300	6503	CDCP2	SO:0001583	missense	0			-	HGNC		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.158A>C	1.37:g.54610408T>G	ENSP00000360381:p.Asn53Thr	Somatic	0	68	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	Q6ZWJ3	Missense_Mutation	SNP							pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	p.N53T	ENST00000371330.1	37	c.158	CCDS588.2	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138756	0.77775	.	.	ENSG00000157211	ENST00000371330	T	0.34472	1.36	5.51	5.51	0.81932	CUB (5);	0.307475	0.35646	N	0.003065	T	0.54515	0.1863	M	0.87547	2.89	0.40672	D	0.982224	D	0.53151	0.958	P	0.49140	0.601	T	0.66396	-0.5934	10	0.66056	D	0.02	-29.0875	15.6251	0.76848	0.0:0.0:0.0:1.0	.	53	Q5VXM1	CDCP2_HUMAN	T	53	ENSP00000360381:N53T	ENSP00000360381:N53T	N	-	2	0	CDCP2	54382996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.136000	0.71703	2.093000	0.63338	0.482000	0.46254	AAC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.567	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CDCP2	protein_coding	OTTHUMT00000022209.2	T	NM_201546	-		54610408	-1	no_errors	ENST00000371330	ensembl	human	novel	74_37	missense	SNP	1.000	G	G	54610408	T	G	54610408	3	3	234	1	0	0	0	0	1	0	0	0	3096	1725	60	5	1203	5	CDCP2	1	54610408	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	16198933	54610408	194640213	5	18893											
FOXD3	27022	genome.wustl.edu	37	chr1	63789443	63789443	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccggaaacgcttcaaGcgccaccagcaggagcacct	12	16	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:63789443G>C	ENST00000371116.2	+	1	714	c.714G>C	c.(712-714)aaG>aaC	p.K238N	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	238					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|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 transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						AACGCTTCAAGCGCCACCAGC	0.697																																					Pancreas(68;276 1750 11966 31252)												0								ENSG00000187140						30	37	35					1																	63789443		2203	4298	6501	FOXD3	SO:0001583	missense	0			-	HGNC	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.714G>C	1.37:g.63789443G>C	ENSP00000360157:p.Lys238Asn	Somatic	0	66	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	29	44.23	Q9BYM2|Q9UDD1	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.K238N	ENST00000371116.2	37	c.714	CCDS624.1	1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545991	0.65198	.	.	ENSG00000187140	ENST00000371116	D	0.95656	-3.77	2.39	2.39	0.29439	.	0.065901	0.56097	U	0.000030	D	0.93789	0.8014	L	0.27053	0.805	0.58432	D	0.999992	D	0.71674	0.998	D	0.65684	0.937	D	0.94449	0.7665	10	0.87932	D	0	.	13.457	0.61204	0.0:0.0:1.0:0.0	.	238	Q9UJU5	FOXD3_HUMAN	N	238	ENSP00000360157:K238N	ENSP00000360157:K238N	K	+	3	2	FOXD3	63562031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.310000	0.65780	1.641000	0.50575	0.460000	0.39030	AAG	-	NULL		0.697	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	protein_coding	OTTHUMT00000025331.1	G		-		63789443	1	no_errors	ENST00000371116	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63789443	G	C	63789443	3	2	234	1	0	0	0	0	1	0	0	0	6000	962	34	4	716	4	FOXD3	1	63789443	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	9179035	63789443	185461178	6	18894											
GBP7	388646	genome.wustl.edu	37	chr1	89618012	89618012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggggtgtccatctaaCttcagctccagggtaaaatc	11	9	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:89618012C>A	ENST00000294671.2	-	5	702	c.564G>T	c.(562-564)aaG>aaT	p.K188N		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	188	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTCCATCTAACTTCAGCTCCA	0.473																																																	0								ENSG00000213512						145	143	144					1																	89618012		2203	4300	6503	GBP7	SO:0001583	missense	0			-	HGNC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.564G>T	1.37:g.89618012C>A	ENSP00000294671:p.Lys188Asn	Somatic	0	64	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	33	25.00		Missense_Mutation	SNP							pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K188N	ENST00000294671.2	37	c.564	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	C	3.530	-0.096028	0.07010	.	.	ENSG00000213512	ENST00000294671	T	0.75704	-0.96	3.37	1.39	0.22231	Guanylate-binding protein, N-terminal (1);	0.619511	0.16790	N	0.199422	T	0.53610	0.1807	M	0.75150	2.29	0.26019	N	0.981892	B	0.15473	0.013	B	0.20577	0.03	T	0.54275	-0.8318	10	0.51188	T	0.08	.	7.2319	0.26046	0.1939:0.6183:0.1878:0.0	.	188	Q8N8V2	GBP7_HUMAN	N	188	ENSP00000294671:K188N	ENSP00000294671:K188N	K	-	3	2	GBP7	89390600	0.000000	0.05858	0.194000	0.23346	0.063000	0.16089	-0.189000	0.09629	0.145000	0.18977	-1.036000	0.02392	AAG	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.473	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	protein_coding	OTTHUMT00000029401.1	C	NM_207398	-		89618012	-1	no_errors	ENST00000294671	ensembl	human	known	74_37	missense	SNP	0.981	A	A	89618012	C	A	89618012	3	1	234	1	0	0	0	0	1	0	0	0	6281	564	20	3	1380	3	GBP7	1	89618012	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	25828569	89618012	159632609	7	18895											
HRNR	388697	genome.wustl.edu	37	chr1	152188769	152188769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaccatgctgtccttggCtacagaagtgccctgagcca	10	12	0	3			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:152188769C>T	ENST00000368801.2	-	3	5411	c.5336G>A	c.(5335-5337)aGc>aAc	p.S1779N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1779					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTTGGCTACAGAAGTG	0.537																																																	0								ENSG00000197915						1	2	2					1																	152188769		537	1680	2217	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5336G>A	1.37:g.152188769C>T	ENSP00000357791:p.Ser1779Asn	Somatic	0	41	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	Q5DT20|Q5U1F4	Missense_Mutation	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S1779N	ENST00000368801.2	37	c.5336	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	0.726	-0.781889	0.02929	.	.	ENSG00000197915	ENST00000368801	T	0.02763	4.17	1.88	-1.56	0.08532	.	.	.	.	.	T	0.00637	0.0021	L	0.29908	0.895	0.09310	N	1	B	0.28026	0.198	B	0.20955	0.032	T	0.44050	-0.9353	9	0.20519	T	0.43	.	7.033	0.24977	0.1817:0.2799:0.5384:0.0	.	1779	Q86YZ3	HORN_HUMAN	N	1779	ENSP00000357791:S1779N	ENSP00000357791:S1779N	S	-	2	0	HRNR	150455393	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.492000	0.06467	-0.388000	0.07797	-2.357000	0.00240	AGC	-	NULL		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152188769	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	T	T	152188769	C	T	152188769	3	4	234	1	0	0	0	0	1	0	0	0	7361	797	28	2	3220	2	HRNR	1	152188769	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	62570757	152188769	97061852	8	18896											
SPTA1	6708	genome.wustl.edu	37	chr1	158590098	158590098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtctgcttgagccctAgccagggaggccaagaagtc	12	10	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:158590098A>G	ENST00000368147.4	-	44	6459	c.6279T>C	c.(6277-6279)gcT>gcC	p.A2093A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2093					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGAGCCCTAGCCAGGGAGG	0.498																																																	0								ENSG00000163554						77	73	74					1																	158590098		1923	4126	6049	SPTA1	SO:0001819	synonymous_variant	0			-	HGNC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6279T>C	1.37:g.158590098A>G		Somatic	0	44	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A2093	ENST00000368147.4	37	c.6279	CCDS41423.1	1																																																																																			-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	A	NM_003126	-		158590098	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	SNP	0.003	G	G	158590098	A	G	158590098	2	3	234	1	0	0	0	0	0	0	0	1	15123	407	15	5		5	SPTA1	1	158590098	Silent	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	6401329	158590098	90660523	9	18897											
CD84	8832	genome.wustl.edu	37	chr1	160549203	160549203	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgcaggcaaaggagcaAgatccataggtggtgctgag	16	6	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:160549203A>G	ENST00000311224.4	-	1	91	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	CD84_ENST00000368051.3_Silent_p.L9L|CD84_ENST00000368048.3_Silent_p.L9L|CD84_ENST00000368054.3_Silent_p.L9L|CD84_ENST00000534968.1_Silent_p.L9L|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	9					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAAAGGAGCAAGATCCATAGG	0.453																																																	0								ENSG00000066294						152	136	141					1																	160549203		2203	4300	6503	CD84	SO:0001819	synonymous_variant	0			-	HGNC	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.25T>C	1.37:g.160549203A>G		Somatic	0	71	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP							pfscan_Ig-like_dom	p.L9	ENST00000311224.4	37	c.25	CCDS53396.1	1																																																																																			-	NULL		0.453	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	protein_coding	OTTHUMT00000059092.1	A	NM_003874	-		160549203	-1	no_errors	ENST00000534968	ensembl	human	known	74_37	silent	SNP	0.999	G	G	160549203	A	G	160549203	2	3	234	1	0	0	0	0	0	0	0	1	3044	69	3	5		5	CD84	1	160549203	Silent	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	1959105	160549203	88701418	10	18898											
NUF2	83540	genome.wustl.edu	37	chr1	163313586	163313586	+	Missense_Mutation	SNP	G	G	A													agagtttgaaaacaaaaattGtggattctccagagaagtta							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:163313586G>A	ENST00000271452.3	+	10	1012	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	NUF2_ENST00000524800.1_Missense_Mutation_p.V245M|NUF2_ENST00000367900.3_Missense_Mutation_p.V245M	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	245	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AACAAAAATTGTGGATTCTCC	0.269																																																	0								ENSG00000143228						24	28	27					1																	163313586		2147	4252	6399	NUF2	SO:0001583	missense	0			-	HGNC	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.733G>A	1.37:g.163313586G>A	ENSP00000271452:p.Val245Met	Somatic	0	279	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	125	11.35	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP							pfam_Kinetochore_Nuf2	p.V245M	ENST00000271452.3	37	c.733	CCDS1245.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076618	0.76415	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.60171	0.7;0.21;0.21	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.61703	1.905	0.43430	D	0.995591	D;D	0.89917	1.0;1.0	D;D	0.73380	0.972;0.98	T	0.67397	-0.5681	9	0.49607	T	0.09	-19.7177	15.3094	0.74019	0.0:0.0:1.0:0.0	.	245;245	E9PQC4;Q9BZD4	.;NUF2_HUMAN	M	245	ENSP00000436888:V245M;ENSP00000356875:V245M;ENSP00000271452:V245M	ENSP00000271452:V245M	V	+	1	0	NUF2	161580210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.171000	0.64996	2.680000	0.91292	0.585000	0.79938	GTG	-	NULL		0.269	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	protein_coding	OTTHUMT00000082812.1	G	NM_145697	-		163313586	1	no_errors	ENST00000271452	ensembl	human	known	74_37	missense	SNP	1.000	A	A	163313586	G	A	163313586	3	1	234	1	0	0	0	0	1	0	0	0	10749	1377	48	2	767	2	NUF2	1	163313586	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	2764383	163313586	85937035	11	18899	496	2									
NUF2	83540	genome.wustl.edu	37	chr1	163313591	163313591	+	Missense_Mutation	SNP	T	T	G													ttgaaaacaaaaattgtggaTtctccagagaagttaaagaa							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:163313591T>G	ENST00000271452.3	+	10	1017	c.738T>G	c.(736-738)gaT>gaG	p.D246E	NUF2_ENST00000524800.1_Missense_Mutation_p.D246E|NUF2_ENST00000367900.3_Missense_Mutation_p.D246E	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	246	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTGTGGATTCTCCAGAGA	0.274																																																	0								ENSG00000143228						24	29	27					1																	163313591		2149	4249	6398	NUF2	SO:0001583	missense	0			-	HGNC	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.738T>G	1.37:g.163313591T>G	ENSP00000271452:p.Asp246Glu	Somatic	0	281	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	129	9.15	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP							pfam_Kinetochore_Nuf2	p.D246E	ENST00000271452.3	37	c.738	CCDS1245.1	1	.	.	.	.	.	.	.	.	.	.	T	4.698	0.129875	0.08981	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.28454	1.64;1.61;1.61	4.83	-2.34	0.06704	.	0.101007	0.64402	N	0.000002	T	0.02342	0.0072	N	0.11427	0.14	0.28485	N	0.914772	B;B	0.17268	0.021;0.021	B;B	0.14023	0.01;0.01	T	0.32481	-0.9905	9	0.02654	T	1	-18.4689	2.4131	0.04430	0.1461:0.4114:0.1502:0.2923	.	246;246	E9PQC4;Q9BZD4	.;NUF2_HUMAN	E	246	ENSP00000436888:D246E;ENSP00000356875:D246E;ENSP00000271452:D246E	ENSP00000271452:D246E	D	+	3	2	NUF2	161580215	0.992000	0.36948	0.995000	0.50966	0.992000	0.81027	-0.038000	0.12144	-0.247000	0.09597	0.477000	0.44152	GAT	-	NULL		0.274	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	protein_coding	OTTHUMT00000082812.1	T	NM_145697	-		163313591	1	no_errors	ENST00000271452	ensembl	human	known	74_37	missense	SNP	0.980	G	G	163313591	T	G	163313591	3	3	234	1	0	0	0	0	1	0	0	0	10749	1490	52	5	772	5	NUF2	1	163313591	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	5	163313591	85937030	12	18900	496	2									
IGFN1	91156	genome.wustl.edu	37	chr1	201190739	201190739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtgccatgtgggcaccGtgccagtcaccacctacacg	10	17	1	0	rs375687736		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:201190739G>A	ENST00000335211.4	+	19	10196	c.10066G>A	c.(10066-10068)Gtg>Atg	p.V3356M	IGFN1_ENST00000295591.8_Missense_Mutation_p.V516M|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	899						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTGGGCACCGTGCCAGTCAC	0.642													G|||	1	0.000199681	0	0	5008	,	,		18431	0		0.001	False		,,,				2504	0																0								ENSG00000163395	G	MET/VAL	0,4406		0,0,2203	53	45	48		10066	2.7	0.1	1		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFN1	NM_001164586.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3356/3709	201190739	1,13005	2203	4300	6503	IGFN1	SO:0001583	missense	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10066G>A	1.37:g.201190739G>A	ENSP00000334714:p.Val3356Met	Somatic	0	52	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	8	76.92	F8WAI1|Q9NT72	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V3356M	ENST00000335211.4	37	c.10066	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.639433|1.639433	0.29157|0.29157	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.61392	.|0.11;0.11	4.64|4.64	2.71|2.71	0.32032|0.32032	.|.	.|0.645104	.|0.13642	.|N	.|0.372870	T|T	0.68366|0.68366	0.2993|0.2993	M|M	0.87456|0.87456	2.885|2.885	0.09310|0.09310	N|N	1|1	.|D	.|0.54964	.|0.969	.|P	.|0.54060	.|0.741	T|T	0.58070|0.58070	-0.7701|-0.7701	5|10	.|0.45353	.|T	.|0.12	.|.	5.2243|5.2243	0.15385|0.15385	0.1763:0.0:0.66:0.1637|0.1763:0.0:0.66:0.1637	.|.	.|3356	.|F8WAI1	.|.	H|M	773|3356;516	.|ENSP00000334714:V3356M;ENSP00000295591:V516M	.|ENSP00000295591:V516M	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199457362|199457362	0.000000|0.000000	0.05858|0.05858	0.105000|0.105000	0.21289|0.21289	0.074000|0.074000	0.17049|0.17049	-0.069000|-0.069000	0.11542|0.11542	0.367000|0.367000	0.24454|0.24454	-0.704000|-0.704000	0.03662|0.03662	CGT|GTG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		G	NM_178275	-		201190739	1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	0.000	A	A	201190739	G	A	201190739	3	1	234	1	0	0	0	0	1	0	0	0	7592	1145	40	1	10136	1	IGFN1	1	201190739	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	37877148	201190739	48059882	13	18901											
USH2A	7399	genome.wustl.edu	37	chr1	216062047	216062047	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaagccattggggtgGgtagggggttgccaagatat	15	8	0	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:216062047G>T	ENST00000307340.3	-	41	8330	c.7944C>A	c.(7942-7944)acC>acA	p.T2648T	USH2A_ENST00000366943.2_Silent_p.T2648T|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2648	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTGGGGTGGGTAGGGGGTT	0.498										HNSCC(13;0.011)																																							0								ENSG00000042781						71	79	76					1																	216062047		2203	4300	6503	USH2A	SO:0001819	synonymous_variant	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7944C>A	1.37:g.216062047G>T		Somatic	0	40	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	Q5VVM9|Q6S362|Q9NS27	Silent	SNP							pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2648	ENST00000307340.3	37	c.7944	CCDS31025.1	1																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		216062047	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	SNP	0.000	T	T	216062047	G	T	216062047	2	4	234	1	0	0	0	0	0	0	0	1	17043	1219	43	3		3	USH2A	1	216062047	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	14871308	216062047	33188574	14	18902											
MRPL55	128308	genome.wustl.edu	37	chr1	228294568	228294568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgagcctcacgcttccGcagcctggcccggcgctcct	12	18	1	1	rs200018997		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr1:228294568G>A	ENST00000411464.2	-	5	1073	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	MRPL55_ENST00000366741.1_Missense_Mutation_p.R94W|MRPL55_ENST00000366739.1_Missense_Mutation_p.R94W|MRPL55_ENST00000366736.1_Missense_Mutation_p.R94W|MRPL55_ENST00000366747.3_Missense_Mutation_p.R94W|MRPL55_ENST00000366732.1_Missense_Mutation_p.R91W|MRPL55_ENST00000366744.1_Missense_Mutation_p.R94W|MRPL55_ENST00000430433.1_Missense_Mutation_p.R130W|MRPL55_ENST00000336520.3_Missense_Mutation_p.R94W|MRPL55_ENST00000295008.4_Missense_Mutation_p.R94W|MRPL55_ENST00000348259.5_Missense_Mutation_p.R94W|MRPL55_ENST00000366733.1_Missense_Mutation_p.R94W|MRPL55_ENST00000391867.3_Missense_Mutation_p.R94W|MRPL55_ENST00000336300.5_Missense_Mutation_p.R94W|MRPL55_ENST00000366740.1_Missense_Mutation_p.R94W|MRPL55_ENST00000366746.3_Missense_Mutation_p.R94W|MRPL55_ENST00000366734.1_Missense_Mutation_p.R94W|MRPL55_ENST00000366738.1_Missense_Mutation_p.R130W|MRPL55_ENST00000366731.5_Missense_Mutation_p.R130W|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366742.1_Missense_Mutation_p.R94W|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366735.1_Missense_Mutation_p.R94W			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	94					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				TCACGCTTCCGCAGCCTGGCC	0.597													G|||	1	0.000199681	8e-04	0	5008	,	,		18059	0		0	False		,,,				2504	0																0								ENSG00000162910						92	77	82					1																	228294568		2203	4300	6503	MRPL55	SO:0001583	missense	0			GMAF=0.0005	HGNC	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"Mitochondrial ribosomal proteins / large subunits"	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.280C>T	1.37:g.228294568G>A	ENSP00000401737:p.Arg94Trp	Somatic	0	36	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP							pfam_Ribosomal_L55_mit	p.R130W	ENST00000411464.2	37	c.388	CCDS1567.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.34	1.908709	0.33721	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.64	2.72	0.32119	.	0.181349	0.33792	N	0.004554	T	0.30510	0.0767	M	0.78637	2.42	0.09310	N	0.999992	B;B	0.33919	0.432;0.274	B;B	0.28465	0.051;0.09	T	0.28650	-1.0037	10	0.87932	D	0	-12.0528	8.0116	0.30357	0.0876:0.0:0.7554:0.157	.	130;94	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	W	91;94;94;94;94;130;94;94;94;94;94;94;94;94;94;94;94;130;94;130;94	ENSP00000355693:R91W;ENSP00000355694:R94W;ENSP00000355695:R94W;ENSP00000355696:R94W;ENSP00000355697:R94W;ENSP00000355699:R130W;ENSP00000355702:R94W;ENSP00000355701:R94W;ENSP00000355700:R94W;ENSP00000355703:R94W;ENSP00000355705:R94W;ENSP00000338189:R94W;ENSP00000355708:R94W;ENSP00000355707:R94W;ENSP00000295008:R94W;ENSP00000337342:R94W;ENSP00000337361:R94W;ENSP00000403614:R130W;ENSP00000375740:R94W;ENSP00000355692:R130W;ENSP00000401737:R94W	ENSP00000295008:R94W	R	-	1	2	MRPL55	226361191	0.910000	0.30920	0.005000	0.12908	0.028000	0.11728	2.245000	0.43133	0.471000	0.27319	0.491000	0.48974	CGG	-	pfam_Ribosomal_L55_mit		0.597	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL55	protein_coding	OTTHUMT00000092808.1	G	XM_059233	rs200018997		228294568	-1	no_errors	ENST00000366731	ensembl	human	known	74_37	missense	SNP	0.062	A	A	228294568	G	A	228294568	3	1	234	1	0	0	0	0	1	0	0	0	9821	1086	38	1	110	1	MRPL55	1	228294568	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	12232521	228294568	20956053	15	18903											
APOB	338	genome.wustl.edu	37	chr2	21247913	21247913	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcccaagatgcggagGtaggctctggcttccgggac	13	13	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:21247913G>T	ENST00000233242.1	-	16	2455	c.2328C>A	c.(2326-2328)taC>taA	p.Y776*	APOB_ENST00000399256.4_Nonsense_Mutation_p.Y776*	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	776					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)					AGATGCGGAGGTAGGCTCTGG	0.493																																																	0								ENSG00000084674						94	96	95					2																	21247913		2203	4300	6503	APOB	SO:0001587	stop_gained	0			-	HGNC	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.2328C>A	2.37:g.21247913G>T	ENSP00000233242:p.Tyr776*	Somatic	0	84	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	47	32.86	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP							pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Y776*	ENST00000233242.1	37	c.2328	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.228076	0.98717	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.7	4.58	0.56647	.	0.121727	0.37261	N	0.002175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1262	0.42652	0.2056:0.0:0.7944:0.0	.	.	.	.	X	776	.	ENSP00000233242:Y776X	Y	-	3	2	APOB	21101418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.977000	0.49297	1.196000	0.43129	0.655000	0.94253	TAC	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G		-		21247913	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	21247913	G	T	21247913	4	4	234	1	0	0	0	0	0	1	0	0	785	1256	44	3	11419	3	APOB	2	21247913	Nonsense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		21247913	221951460	16	18904											
NCOA1	8648	genome.wustl.edu	37	chr2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttttcacctggcatggGcatgcagcccaggcaaactc	10	13	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:24952593G>A	ENST00000406961.1	+	17	3762	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000405141.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								ENSG00000084676						114	114	114					2																	24952593		2203	4300	6503	NCOA1	SO:0001583	missense	0			-	HGNC	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3110G>A	2.37:g.24952593G>A	ENSP00000385216:p.Gly1037Asp	Somatic	0	88	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.64	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP							pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.G1037D	ENST00000406961.1	37	c.3110	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203685	0.58234	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.51	5.51	0.81932	.	0.172578	0.49916	D	0.000122	T	0.45094	0.1325	L	0.49778	1.585	0.48511	D	0.999663	B;B;B;B	0.34290	0.447;0.319;0.241;0.155	B;B;B;B	0.34180	0.177;0.086;0.177;0.086	T	0.39563	-0.9608	10	0.44086	T	0.13	.	16.0087	0.80380	0.0:0.1346:0.8654:0.0	.	1037;1037;1037;886	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	1037;1037;886;1037;1037;1037;1037	ENSP00000385216:G1037D;ENSP00000385097:G1037D;ENSP00000385195:G886D;ENSP00000444039:G1037D;ENSP00000320940:G1037D;ENSP00000288599:G1037D;ENSP00000379197:G1037D	ENSP00000288599:G1037D	G	+	2	0	NCOA1	24806097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.297000	0.51810	2.775000	0.95449	0.585000	0.79938	GGC	-	pirsf_Nuclear_rcpt_coactivator		0.542	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	protein_coding	OTTHUMT00000246852.3	G	NM_147223	-		24952593	1	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24952593	G	A	24952593	3	1	234	1	0	0	0	0	1	0	0	0	10230	1203	42	2	3160	2	NCOA1	2	24952593	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	3704680	24952593	218246780	17	18905											
CAD	790	genome.wustl.edu	37	chr2	27459278	27459278	+	Frame_Shift_Del	DEL	G	G	-													acctgtcaatgcgtggagctGggggccggcgtctctcttcc							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:27459278delG	ENST00000403525.1	+	25	4156	c.4012delG	c.(4012-4014)gggfs	p.G1339fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.G1402fs			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)					GCGTGGAGCTGGGGGCCGGCG	0.577																																																	0								ENSG00000084774						83	80	81					2																	27459278		2203	4300	6503	CAD	SO:0001589	frameshift_variant	0				HGNC	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.4012delG	2.37:g.27459278delG	ENSP00000384510:p.Gly1339fs	Somatic	0	37	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL							pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.G1402fs	ENST00000403525.1	37	c.4201		2																																																																																			-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	G				27459278	1	no_errors	ENST00000264705	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	27459278	G	-	27459278	7	5	234	1	0	1	0	1	0	0	0	0	2567	1348	47	0	4303	0	CAD	2	27459278	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09	2506685	27459278	215740095	18	18906											
PAPOLG	64895	genome.wustl.edu	37	chr2	60997608	60997608	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggctgtagaagatgccTttgtacctgttataaaattt	9	5	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:60997608T>A	ENST00000238714.3	+	6	703	c.454T>A	c.(454-456)Ttt>Att	p.F152I		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	152		Interaction with RNA. {ECO:0000250}.			mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGAAGATGCCTTTGTACCTGT	0.284																																					GBM(183;1497 2932 21839 46797)												0								ENSG00000115421						176	168	171					2																	60997608		2202	4298	6500	PAPOLG	SO:0001583	missense	0			-	HGNC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.454T>A	2.37:g.60997608T>A	ENSP00000238714:p.Phe152Ile	Somatic	0	101	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP							pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.F152I	ENST00000238714.3	37	c.454	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517330	0.85495	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.73	5.73	0.89815	Nucleotidyl transferase domain (1);Poly(A) polymerase, central domain (1);	0.097735	0.64402	D	0.000001	T	0.76814	0.4040	M	0.88906	2.99	0.80722	D	1	P	0.35242	0.492	B	0.40982	0.345	T	0.80591	-0.1314	9	0.87932	D	0	-15.3485	15.9756	0.80060	0.0:0.0:0.0:1.0	.	152	Q9BWT3	PAPOG_HUMAN	I	152	.	ENSP00000238714:F152I	F	+	1	0	PAPOLG	60851112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.653000	0.83643	2.313000	0.78055	0.454000	0.30748	TTT	-	pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase		0.284	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	protein_coding	OTTHUMT00000251577.3	T	NM_022894	-		60997608	1	no_errors	ENST00000238714	ensembl	human	known	74_37	missense	SNP	1.000	A	A	60997608	T	A	60997608	3	1	234	1	0	0	0	0	1	0	0	0	11433	1609	56	5	476	5	PAPOLG	2	60997608	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	33538330	60997608	182201765	19	18907											
INSIG2	51141	genome.wustl.edu	37	chr2	118864318	118864318	+	Frame_Shift_Del	DEL	G	G	-													taacactgatctcagaaagtGgatttcgataacaacataca							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:118864318delG	ENST00000245787.4	+	4	581	c.375delG	c.(373-375)gtgfs	p.V125fs	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	125					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CTCAGAAAGTGGATTTCGATA	0.383																																																	0								ENSG00000125629						158	145	149					2																	118864318		2203	4300	6503	INSIG2	SO:0001589	frameshift_variant	0				HGNC	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.375delG	2.37:g.118864318delG	ENSP00000245787:p.Val125fs	Somatic	0	57	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A8K5W8|Q8TBI8	Frame_Shift_Del	DEL							pfam_INSIG_fam	p.D126fs	ENST00000245787.4	37	c.375	CCDS2122.1	2																																																																																			-	pfam_INSIG_fam		0.383	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	protein_coding	OTTHUMT00000129624.1	G	NM_016133			118864318	1	no_errors	ENST00000245787	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	118864318	G	-	118864318	7	5	234	1	0	1	0	1	0	0	0	0	7768	1335	47	0	385	0	INSIG2	2	118864318	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09	57866710	118864318	124335055	20	18908											
ARHGEF4	50649	genome.wustl.edu	37	chr2	131803760	131803760	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcacccttccgcaagTgaactggtccctgcctgaca	11	15	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:131803760T>C	ENST00000326016.5	+	14	2590	c.2071T>C	c.(2071-2073)Tga>Cga	p.*691R	ARHGEF4_ENST00000428230.2_Nonstop_Mutation_p.*193R|ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Nonstop_Mutation_p.*631R|ARHGEF4_ENST00000355771.3_Nonstop_Mutation_p.*620R|ARHGEF4_ENST00000392953.3_3'UTR	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	0					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|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 Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTTCCGCAAGTGAACTGGTCC	0.667																																																	0								ENSG00000136002						26	29	28					2																	131803760		2201	4299	6500	ARHGEF4	SO:0001578	stop_lost	0			-	HGNC	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.2071T>C	2.37:g.131803760T>C	ENSP00000316845:p.*691Argext*91	Somatic	0	84	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	36	33.33	Q9HDC6|Q9UPP0	Nonstop_Mutation	SNP							pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.*691R	ENST00000326016.5	37	c.2071	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526615	0.85706	.	.	ENSG00000136002	ENST00000326016;ENST00000438985;ENST00000428230;ENST00000409303;ENST00000355771	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4949	0.61419	0.0:0.0:0.0:1.0	.	.	.	.	R	691;373;193;631;620	.	.	X	+	1	0	ARHGEF4	131520230	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.654000	0.61469	2.089000	0.63090	0.379000	0.24179	TGA	-	NULL		0.667	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	protein_coding	OTTHUMT00000254554.4	T		-		131803760	1	no_errors	ENST00000326016	ensembl	human	known	74_37	nonstop	SNP	1.000	C	C	131803760	T	C	131803760	4	2	234	1	0	0	0	0	0	0	0	0	908	1709	59	5	2209	5	ARHGEF4	2	131803760	Nonstop_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	12939442	131803760	111395613	21	18909											
ZEB2	9839	genome.wustl.edu	37	chr2	145157714	145157715	+	Frame_Shift_Del	DEL	TT	TT	-													gggaagaacccgtcttgataTtgtttctcattcggccattt							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:145157714_145157715delTT	ENST00000558170.2	-	8	2223_2224	c.1039_1040delAA	c.(1039-1041)aatfs	p.N347fs	ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N347fs|ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N347fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N323fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	347					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTCTTGATATTGTTTCTCATT	0.396																																					Melanoma(33;1235 1264 5755 16332)												0								ENSG00000169554																																			ZEB2	SO:0001589	frameshift_variant	0				HGNC	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1039_1040delAA	2.37:g.145157714_145157715delTT	ENSP00000454157:p.Asn347fs	Somatic	0	104	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	A0JP09|B7Z2P2|F5H814|Q9UED1	Frame_Shift_Del	DEL							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.N347fs	ENST00000558170.2	37	c.1040_1039	CCDS2186.1	2																																																																																			-	NULL		0.396	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	protein_coding	OTTHUMT00000254778.5	TT	NM_014795			145157715	-1	no_errors	ENST00000303660	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	145157715	TT	-	145157714	7	5	234	1	0	1	0	1	0	0	0	0	17631	1493	52	0	2616	0	ZEB2	2	145157714	Frame_Shift_Del	DEL	TT	TCGA-X6-A8C2-01A-11D-A36J-09	13353954	145157714	98041659	22	18910											
ZNF804A	91752	genome.wustl.edu	37	chr2	185801275	185801275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgttaagcataacgaGgcatccacaactgaggttga	10	7	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:185801275G>T	ENST00000302277.6	+	4	1746	c.1152G>T	c.(1150-1152)gaG>gaT	p.E384D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	384							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCATAACGAGGCATCCACAA	0.363																																																	0								ENSG00000170396						61	62	62					2																	185801275		2203	4300	6503	ZNF804A	SO:0001583	missense	0			-	HGNC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1152G>T	2.37:g.185801275G>T	ENSP00000303252:p.Glu384Asp	Somatic	0	33	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A7E253|Q6ZN26	Missense_Mutation	SNP							pfam_Znf_C2H2_jaz	p.E384D	ENST00000302277.6	37	c.1152	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.478855	0.00165	.	.	ENSG00000170396	ENST00000302277	T	0.04654	3.58	5.39	-10.8	0.00216	.	1.323370	0.05021	N	0.472771	T	0.00784	0.0026	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35475	-0.9787	10	0.02654	T	1	0.2196	1.4564	0.02386	0.3401:0.1558:0.3426:0.1614	.	384	Q7Z570	Z804A_HUMAN	D	384	ENSP00000303252:E384D	ENSP00000303252:E384D	E	+	3	2	ZNF804A	185509520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.782000	0.00772	-2.865000	0.00325	-1.211000	0.01629	GAG	-	NULL		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	G	NM_194250	-		185801275	1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	SNP	0.000	T	T	185801275	G	T	185801275	3	4	234	1	0	0	0	0	1	0	0	0	18177	991	35	3	1166	3	ZNF804A	2	185801275	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	40643561	185801275	57398098	23	18911											
PLCL1	5334	genome.wustl.edu	37	chr2	198948489	198948489	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattattttacaggatccttCaaaccaaaaatgtggtggaa	7	6	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:198948489C>G	ENST00000428675.1	+	2	646	c.248C>G	c.(247-249)tCa>tGa	p.S83*	PLCL1_ENST00000437704.2_5'Flank	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	83	Interaction with PPP1C.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGGATCCTTCAAACCAAAAA	0.348																																																	0								ENSG00000115896						43	44	44					2																	198948489		2200	4300	6500	PLCL1	SO:0001587	stop_gained	0			-	HGNC	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.248C>G	2.37:g.198948489C>G	ENSP00000402861:p.Ser83*	Somatic	0	63	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S83*	ENST00000428675.1	37	c.248	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	37	6.628777	0.97718	.	.	ENSG00000115896	ENST00000428675	.	.	.	5.67	5.67	0.87782	.	0.619946	0.12011	U	0.507868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	.	.	.	X	83	.	.	S	+	2	0	PLCL1	198656734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.238000	0.78173	2.836000	0.97738	0.655000	0.94253	TCA	-	NULL		0.348	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	C	NM_006226	-		198948489	1	no_errors	ENST00000428675	ensembl	human	known	74_37	nonsense	SNP	1.000	G	G	198948489	C	G	198948489	4	3	234	1	0	0	0	0	0	1	0	0	12041	838	29	4	254	4	PLCL1	2	198948489	Nonsense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	13147214	198948489	44250884	24	18912											
AGFG1	3267	genome.wustl.edu	37	chr2	228418418	228418418	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggttctattttaacaAggtgcaggttttgcagcatt	11	5	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr2:228418418A>T	ENST00000310078.8	+	12	1797		c.e12-1		AGFG1_ENST00000409979.2_Intron|AGFG1_ENST00000373671.3_Splice_Site|AGFG1_ENST00000409171.1_Intron|AGFG1_ENST00000409315.1_Splice_Site	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TATTTTAACAAGGTGCAGGTT	0.398																																																	0								ENSG00000173744						92	97	95					2																	228418418		2203	4300	6503	AGFG1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1538-1A>T	2.37:g.228418418A>T		Somatic	0	109	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	10.81	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Splice_Site	SNP							-	e12-2	ENST00000310078.8	37	c.1538-2	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408677	0.83340	.	.	ENSG00000173744	ENST00000310078;ENST00000409315;ENST00000373671;ENST00000458212	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0564	0.80809	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGFG1	228126662	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	7.849000	0.86908	2.197000	0.70478	0.482000	0.46254	.	-	-		0.398	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	protein_coding	OTTHUMT00000256895.2	A	NM_004504	-	Intron	228418418	1	no_errors	ENST00000310078	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	228418418	A	T	228418418	5	4	234	1	0	0	0	0	0	0	1	0	380	86	3	5	1658	5	AGFG1	2	228418418	Splice_Site	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	29469929	228418418	14780955	25	18913											
FRMD4B	23150	genome.wustl.edu	37	chr3	69230187	69230187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccttctgcccagaggccCgctggtaccagccacgcaag	11	16	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr3:69230187C>A	ENST00000398540.3	-	21	2797	c.2714G>T	c.(2713-2715)cGg>cTg	p.R905L	FRMD4B_ENST00000542259.1_Missense_Mutation_p.R851L|FRMD4B_ENST00000478263.1_Missense_Mutation_p.R557L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	905					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CCCAGAGGCCCGCTGGTACCA	0.587																																																	0								ENSG00000114541						75	72	73					3																	69230187		1987	4185	6172	FRMD4B	SO:0001583	missense	0			-	HGNC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2714G>T	3.37:g.69230187C>A	ENSP00000381549:p.Arg905Leu	Somatic	0	40	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	Q8TAI3	Missense_Mutation	SNP							pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.R905L	ENST00000398540.3	37	c.2714	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898813	0.91962	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.94184	-3.37;-3.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.71036	2.16	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96565	0.9418	10	0.87932	D	0	-16.9233	20.1141	0.97919	0.0:1.0:0.0:0.0	.	749;905	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	L	905;851;557	ENSP00000381549:R905L;ENSP00000437658:R851L	ENSP00000381549:R905L	R	-	2	0	FRMD4B	69312877	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.487000	0.81328	2.757000	0.94681	0.591000	0.81541	CGG	-	NULL		0.587	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	protein_coding	OTTHUMT00000352111.1	C		-		69230187	-1	no_errors	ENST00000398540	ensembl	human	known	74_37	missense	SNP	1.000	A	A	69230187	C	A	69230187	3	1	234	1	0	0	0	0	1	0	0	0	6054	652	23	3	402	3	FRMD4B	3	69230187	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09		69230187	128792243	26	18914											
KIAA2018	205717	genome.wustl.edu	37	chr3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T													aaagagatgatttctgagggINStttttttttttagcaagatc					rs78597857		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)						ENSG00000176542																																			KIAA2018	SO:0001589	frameshift_variant	0				HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs	Somatic	0	38	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			-	NULL		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	-	NM_001009899			113377482	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	INS	0.174:0.827	T	T	113377482	-	T	113377481	7	5	234	1	0	1	1	0	0	0	0	0	8270	1252	44	0	3693	0	KIAA2018	3	113377481	Frame_Shift_Ins	INS	-	TCGA-X6-A8C2-01A-11D-A36J-09	44147294	113377481	84644949	27	18915											
COL6A6	131873	genome.wustl.edu	37	chr3	130282278	130282278	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttcatctgagtctgAggataatgtggaagaggcat	13	7	3	3			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr3:130282278A>T	ENST00000358511.6	+	2	462	c.431A>T	c.(430-432)gAg>gTg	p.E144V	COL6A6_ENST00000453409.2_Missense_Mutation_p.E144V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	144	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTGAGTCTGAGGATAATGTG	0.498																																																	0								ENSG00000206384						48	48	48					3																	130282278		1901	4122	6023	COL6A6	SO:0001583	missense	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.431A>T	3.37:g.130282278A>T	ENSP00000351310:p.Glu144Val	Somatic	0	57	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP							pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E144V	ENST00000358511.6	37	c.431	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	A	17.43	3.386518	0.61956	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.101584	0.43260	D	0.000596	D	0.84942	0.5584	M	0.69185	2.1	0.28192	N	0.927723	D	0.64830	0.994	P	0.61658	0.892	T	0.80410	-0.1394	10	0.49607	T	0.09	.	15.0383	0.71767	1.0:0.0:0.0:0.0	.	144	A6NMZ7	CO6A6_HUMAN	V	144	ENSP00000351310:E144V;ENSP00000399236:E144V	ENSP00000351310:E144V	E	+	2	0	COL6A6	131764968	0.976000	0.34144	0.995000	0.50966	0.769000	0.43574	2.462000	0.45049	2.090000	0.63153	0.459000	0.35465	GAG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	A	NM_001102608	-		130282278	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	SNP	0.895	T	T	130282278	A	T	130282278	3	4	234	1	0	0	0	0	1	0	0	0	3705	304	11	5	437	5	COL6A6	3	130282278	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	16904797	130282278	67740152	28	18916											
ATP2C1	27032	genome.wustl.edu	37	chr3	130683797	130683797	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatttaattctttaggctgcTgtaatgtgatttgttcagat	9	4	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr3:130683797T>A	ENST00000510168.1	+	14	1580	c.1030T>A	c.(1030-1032)Tgt>Agt	p.C344S	ATP2C1_ENST00000533801.2_Missense_Mutation_p.C339S|ATP2C1_ENST00000359644.3_Missense_Mutation_p.C344S|ATP2C1_ENST00000328560.8_Missense_Mutation_p.C344S|ATP2C1_ENST00000507488.2_Missense_Mutation_p.C328S|ATP2C1_ENST00000422190.2_Missense_Mutation_p.C344S|ATP2C1_ENST00000508532.1_Missense_Mutation_p.C344S|ATP2C1_ENST00000504948.1_Missense_Mutation_p.C328S|ATP2C1_ENST00000513801.1_Missense_Mutation_p.C328S|ATP2C1_ENST00000393221.4_Missense_Mutation_p.C378S|ATP2C1_ENST00000504381.1_Missense_Mutation_p.C289S|ATP2C1_ENST00000428331.2_Missense_Mutation_p.C344S|ATP2C1_ENST00000505330.1_Missense_Mutation_p.C328S			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	344			C -> Y (in HHD; unstable protein). {ECO:0000269|PubMed:10767338}.		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)	TTTAGGCTGCTGTAATGTGAT	0.343									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0								ENSG00000017260						134	123	127					3																	130683797		2203	4300	6503	ATP2C1	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	-	HGNC	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.1030T>A	3.37:g.130683797T>A	ENSP00000427461:p.Cys344Ser	Somatic	0	66	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.C378S	ENST00000510168.1	37	c.1132	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543737	0.65198	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-1.4	5.26	5.26	0.73747	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92971	0.7763	L	0.43598	1.365	0.80722	D	1	B;B;B;B;B;B;B	0.29341	0.203;0.242;0.132;0.081;0.082;0.03;0.099	B;B;B;B;B;B;B	0.29663	0.099;0.101;0.105;0.061;0.105;0.036;0.06	D	0.91897	0.5528	10	0.56958	D	0.05	.	15.4681	0.75419	0.0:0.0:0.0:1.0	.	378;339;378;344;378;344;344	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	S	328;289;328;378;339;344;344;328;328;344;344;344;344;343;83	ENSP00000423774:C328S;ENSP00000425320:C289S;ENSP00000421326:C328S;ENSP00000376914:C378S;ENSP00000432956:C339S;ENSP00000427461:C344S;ENSP00000424783:C344S;ENSP00000423330:C328S;ENSP00000422872:C328S;ENSP00000329664:C344S;ENSP00000395809:C344S;ENSP00000352665:C344S;ENSP00000402677:C344S;ENSP00000422890:C83S	ENSP00000329664:C344S	C	+	1	0	ATP2C1	132166487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.099000	0.63709	0.459000	0.35465	TGT	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase		0.343	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	protein_coding	OTTHUMT00000356648.2	T	NM_001001486	-		130683797	1	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	SNP	1.000	A	A	130683797	T	A	130683797	3	1	234	1	0	0	0	0	1	0	0	0	1143	1580	55	5	1080	5	ATP2C1	3	130683797	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	401519	130683797	67338633	29	18917											
CP	1356	genome.wustl.edu	37	chr3	148928119	148928119	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctcctggatatacttTgtcatctgctctttgaaaat	6	10	4	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr3:148928119T>A	ENST00000264613.6	-	3	704	c.442A>T	c.(442-444)Aaa>Taa	p.K148*		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	148	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGATATACTTTGTCATCTGCT	0.423																																																	0								ENSG00000047457						161	149	153					3																	148928119		2203	4300	6503	CP	SO:0001587	stop_gained	0			-	HGNC	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.442A>T	3.37:g.148928119T>A	ENSP00000264613:p.Lys148*	Somatic	0	87	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	Q14063|Q2PP18|Q9UKS4	Nonsense_Mutation	SNP							pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.K148*	ENST00000264613.6	37	c.442	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019956	0.75275	.	.	ENSG00000047457	ENST00000264613	.	.	.	5.8	4.57	0.56435	.	0.336726	0.35378	N	0.003258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-24.3738	5.1079	0.14794	0.0:0.148:0.1645:0.6876	.	.	.	.	X	148	.	ENSP00000264613:K148X	K	-	1	0	CP	150410809	1.000000	0.71417	0.987000	0.45799	0.053000	0.15095	0.828000	0.27435	2.207000	0.71202	0.455000	0.32223	AAA	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.423	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	protein_coding	OTTHUMT00000317498.1	T	NM_000096	-		148928119	-1	no_errors	ENST00000264613	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	148928119	T	A	148928119	4	1	234	1	0	0	0	0	0	1	0	0	3789	1821	63	5	2823	5	CP	3	148928119	Nonsense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	18244322	148928119	49094311	30	18918											
FNDC3B	64778	genome.wustl.edu	37	chr3	172003714	172003714	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctttttcgcaatgcAgaatatgagttggaagtaaa	8	4	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr3:172003714A>G	ENST00000336824.4	+	7	889		c.e7-1		FNDC3B_ENST00000415807.2_Splice_Site|FNDC3B_ENST00000416957.1_Splice_Site	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B						cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCGCAATGCAGAATATGAGT	0.373																																																	0								ENSG00000075420						82	83	83					3																	172003714		2203	4300	6503	FNDC3B	SO:0001630	splice_region_variant	0			-	HGNC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.791-1A>G	3.37:g.172003714A>G		Somatic	0	40	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Splice_Site	SNP							-	e6-2	ENST00000336824.4	37	c.791-2	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224841	0.79576	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FNDC3B	173486408	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	7.927000	0.87577	2.308000	0.77769	0.533000	0.62120	.	-	-		0.373	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	protein_coding	OTTHUMT00000345618.2	A	NM_022763	-	Intron	172003714	1	no_errors	ENST00000336824	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	172003714	A	G	172003714	5	3	234	1	0	0	0	0	0	0	1	0	5972	202	7	5	811	5	FNDC3B	3	172003714	Splice_Site	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	23075595	172003714	26018716	31	18919											
ANAPC4	29945	genome.wustl.edu	37	chr4	25415313	25415313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaaaatcattgcatttTgtgaaaaggcggatggagaa	11	6	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr4:25415313T>A	ENST00000315368.3	+	22	1714	c.1572T>A	c.(1570-1572)ttT>ttA	p.F524L	ANAPC4_ENST00000510092.1_Missense_Mutation_p.F525L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CATTGCATTTTGTGAAAAGGC	0.338																																																	0								ENSG00000053900						120	118	119					4																	25415313		2203	4300	6503	ANAPC4	SO:0001583	missense	0			-	HGNC	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1572T>A	4.37:g.25415313T>A	ENSP00000318775:p.Phe524Leu	Somatic	0	87	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP							superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.F525L	ENST00000315368.3	37	c.1575	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759782	0.49468	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.29397	1.57;1.57	6.07	3.63	0.41609	.	0.046134	0.85682	D	0.000000	T	0.27629	0.0679	M	0.62723	1.935	0.51482	D	0.999921	B	0.20887	0.049	B	0.19666	0.026	T	0.05801	-1.0863	10	0.11485	T	0.65	-33.653	10.7682	0.46305	0.0:0.1299:0.0:0.8701	.	524	Q9UJX5	APC4_HUMAN	L	524;525	ENSP00000318775:F524L;ENSP00000426654:F525L	ENSP00000318775:F524L	F	+	3	2	ANAPC4	25024411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.797000	0.47877	1.129000	0.42072	0.477000	0.44152	TTT	-	pirsf_APC4_metazoa		0.338	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	protein_coding	OTTHUMT00000214986.1	T	NM_013367	-		25415313	1	no_errors	ENST00000510092	ensembl	human	known	74_37	missense	SNP	1.000	A	A	25415313	T	A	25415313	3	1	234	1	0	0	0	0	1	0	0	0	604	1809	63	5	1654	5	ANAPC4	4	25415313	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09		25415313	165738963	32	18920											
TERT	7015	genome.wustl.edu	37	chr5	1293552	1293552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgaggaagcggcgttcGttgtgcctggagccccagag	15	11	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:1293552G>A	ENST00000310581.5	-	2	1506	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	TERT_ENST00000296820.5_Silent_p.N483N|TERT_ENST00000508104.2_Silent_p.N483N|TERT_ENST00000334602.6_Silent_p.N483N|TERT_ENST00000522877.1_5'Flank	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	483	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGCGGCGTTCGTTGTGCCTGG	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0								ENSG00000164362						33	33	33					5																	1293552		2193	4300	6493	TERT	SO:0001819	synonymous_variant	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	-	HGNC	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1449C>T	5.37:g.1293552G>A		Somatic	0	29	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP							pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.N483	ENST00000310581.5	37	c.1449	CCDS3861.2	5																																																																																			-	pfam_Telomerase_RBD,smart_Telomerase_RBD		0.662	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	protein_coding	OTTHUMT00000206729.2	G		-		1293552	-1	no_errors	ENST00000310581	ensembl	human	known	74_37	silent	SNP	0.984	A	A	1293552	G	A	1293552	2	1	234	1	0	0	0	0	0	0	0	1	15771	1136	40	1		1	TERT	5	1293552	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		1293552	179621708	33	18921											
CDH12	1010	genome.wustl.edu	37	chr5	21751881	21751881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggttataactctcttcttCgccaaacatgtctgccaaga	7	11	3	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:21751881C>T	ENST00000382254.1	-	15	3436	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	CDH12_ENST00000504376.2_Missense_Mutation_p.E784K|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.E744K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	784					adherens junction organization (GO:0034332)|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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTCTCTTCTTCGCCAAACATG	0.443										HNSCC(59;0.17)																																							0								ENSG00000154162						81	82	82					5																	21751881		2203	4300	6503	CDH12	SO:0001583	missense	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2350G>A	5.37:g.21751881C>T	ENSP00000371689:p.Glu784Lys	Somatic	0	49	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	12	75.00	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E784K	ENST00000382254.1	37	c.2350	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940972	0.34283	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.75938	-0.98;-0.98;-0.98	5.34	5.34	0.76211	Cadherin, cytoplasmic domain (1);	0.052208	0.85682	D	0.000000	T	0.65471	0.2694	L	0.40543	1.245	0.52501	D	0.999957	B;B	0.21452	0.01;0.056	B;B	0.18263	0.021;0.011	T	0.61959	-0.6955	10	0.39692	T	0.17	.	12.4075	0.55449	0.0:0.9228:0.0:0.0772	.	744;784	B7Z2U6;P55289	.;CAD12_HUMAN	K	784;784;744	ENSP00000423577:E784K;ENSP00000371689:E784K;ENSP00000428786:E744K	ENSP00000371689:E784K	E	-	1	0	CDH12	21787638	1.000000	0.71417	0.935000	0.37517	0.930000	0.56654	5.355000	0.66046	2.496000	0.84212	0.467000	0.42956	GAA	-	pfam_Cadherin_cytoplasmic-dom		0.443	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	C	NM_004061	-		21751881	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	SNP	0.998	T	T	21751881	C	T	21751881	3	4	234	1	0	0	0	0	1	0	0	0	3100	893	31	1	38	1	CDH12	5	21751881	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	20458329	21751881	159163379	34	18922											
CDH6	1004	genome.wustl.edu	37	chr5	31317976	31317976	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgctcatccaccccacGggactgagcacgggggctct	14	15	2	1	rs145080455		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:31317976G>T	ENST00000265071.2	+	11	2092	c.1827G>T	c.(1825-1827)acG>acT	p.T609T	CDH6_ENST00000514738.1_Silent_p.T554T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	609					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCACCCCACGGGACTGAGCA	0.592																																																	0								ENSG00000113361						66	64	65					5																	31317976		2203	4300	6503	CDH6	SO:0001819	synonymous_variant	0			-	HGNC	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1827G>T	5.37:g.31317976G>T		Somatic	0	48	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.11	A8K5H5|Q9BWS0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T609	ENST00000265071.2	37	c.1827	CCDS3894.1	5																																																																																			-	pfscan_Cadherin		0.592	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	protein_coding	OTTHUMT00000207355.2	G	NM_004932	-		31317976	1	no_errors	ENST00000265071	ensembl	human	known	74_37	silent	SNP	0.996	T	T	31317976	G	T	31317976	2	4	234	1	0	0	0	0	0	0	0	1	3116	1103	39	3		3	CDH6	5	31317976	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	9566095	31317976	149597284	35	18923											
YTHDC2	64848	genome.wustl.edu	37	chr5	112871433	112871433	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactttgaaactaattctttCtagtgctgccttggatgtaa	7	7	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:112871433C>A	ENST00000161863.4	+	7	1253	c.1040C>A	c.(1039-1041)tCt>tAt	p.S347Y	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S347Y	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	347	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTAATTCTTTCTAGTGCTGCC	0.303																																																	0								ENSG00000047188						62	68	66					5																	112871433		2201	4298	6499	YTHDC2	SO:0001583	missense	0			-	HGNC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1040C>A	5.37:g.112871433C>A	ENSP00000161863:p.Ser347Tyr	Somatic	0	81	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	B2RP66	Missense_Mutation	SNP							pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S347Y	ENST00000161863.4	37	c.1040	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796856	0.70567	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.09350	2.99;2.99	5.61	5.61	0.85477	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.054046	0.85682	D	0.000000	T	0.37598	0.1009	M	0.77103	2.36	0.53688	D	0.999971	D	0.89917	1.0	D	0.79108	0.992	T	0.11591	-1.0581	10	0.87932	D	0	.	19.6493	0.95794	0.0:1.0:0.0:0.0	.	347	Q9H6S0	YTDC2_HUMAN	Y	347;347;257	ENSP00000161863:S347Y;ENSP00000423101:S347Y	ENSP00000161863:S347Y	S	+	2	0	YTHDC2	112899332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.663000	0.68038	2.638000	0.89438	0.650000	0.86243	TCT	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.303	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	protein_coding	OTTHUMT00000250776.2	C	NM_022828	-		112871433	1	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	SNP	1.000	A	A	112871433	C	A	112871433	3	1	234	1	0	0	0	0	1	0	0	0	17504	913	32	3	1066	3	YTHDC2	5	112871433	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	81553457	112871433	68043827	36	18924											
TCOF1	6949	genome.wustl.edu	37	chr5	149771625	149771625	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagcttcctgaggtccagCaggccaccaaagcccctgag	10	15	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:149771625C>T	ENST00000504761.2	+	21	3403	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*	TCOF1_ENST00000323668.7_Nonsense_Mutation_p.Q1058*|TCOF1_ENST00000513346.1_Nonsense_Mutation_p.Q1134*|TCOF1_ENST00000451292.1_Nonsense_Mutation_p.Q1172*|TCOF1_ENST00000377797.3_Nonsense_Mutation_p.Q1135*|TCOF1_ENST00000439160.2_Nonsense_Mutation_p.Q1097*|TCOF1_ENST00000445265.2_Nonsense_Mutation_p.Q1058*			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1135					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGGTCCAGCAGGCCACCAA	0.587																																																	0								ENSG00000070814						74	72	73					5																	149771625		2203	4300	6503	TCOF1	SO:0001587	stop_gained	0			-	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3403C>T	5.37:g.149771625C>T	ENSP00000421655:p.Gln1135*	Somatic	0	50	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Nonsense_Mutation	SNP							pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.Q1172*	ENST00000504761.2	37	c.3514	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.092547	0.97276	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	.	.	.	5.18	4.31	0.51392	.	0.454593	0.16575	N	0.208440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.3333	11.4908	0.50379	0.1793:0.8207:0.0:0.0	.	.	.	.	X	1172;1135;1058;1058;1097;1097;1135;1134	.	ENSP00000325223:Q1058X	Q	+	1	0	TCOF1	149751818	0.096000	0.21769	0.156000	0.22583	0.276000	0.26787	1.944000	0.40263	1.304000	0.44892	0.655000	0.94253	CAG	-	NULL		0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	C	NM_001008656	-		149771625	1	no_errors	ENST00000451292	ensembl	human	known	74_37	nonsense	SNP	0.072	T	T	149771625	C	T	149771625	4	4	234	1	0	0	0	0	0	1	0	0	15715	711	25	2	3507	2	TCOF1	5	149771625	Nonsense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	36900192	149771625	31143635	37	18925											
SLC36A1	206358	genome.wustl.edu	37	chr5	150844123	150844124	+	Frame_Shift_Ins	INS	-	-	T													catcgtggccgtgcactgcaINStgggtatcctggtgaaatgt					rs143136105		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:150844123_150844124insT	ENST00000243389.3	+	4	506_507	c.283_284insT	c.(283-285)atgfs	p.M95fs	SLC36A1_ENST00000520701.1_Frame_Shift_Ins_p.M95fs|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000521925.1_Frame_Shift_Ins_p.M95fs|SLC36A1_ENST00000429484.2_Frame_Shift_Ins_p.M95fs	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	95					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CGTGCACTGCATGGGTATCCTG	0.51																																					Melanoma(151;1534 1860 12947 32979 37872)												0								ENSG00000123643																																			SLC36A1	SO:0001589	frameshift_variant	0				HGNC	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.284dupT	5.37:g.150844124_150844124dupT	ENSP00000243389:p.Met95fs	Somatic	0	32	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	8	20.00	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Frame_Shift_Ins	INS							pfam_AA_transpt_TM	p.M95fs	ENST00000243389.3	37	c.283_284	CCDS4316.1	5																																																																																			-	pfam_AA_transpt_TM		0.51	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	protein_coding	OTTHUMT00000252433.1	-	NM_078483			150844124	1	no_errors	ENST00000243389	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T	T	150844124	-	T	150844123	7	5	234	1	0	1	1	0	0	0	0	0	14601	217	8	0	293	0	SLC36A1	5	150844123	Frame_Shift_Ins	INS	-	TCGA-X6-A8C2-01A-11D-A36J-09	1072498	150844123	30071137	38	18926											
OR2V2	285659	genome.wustl.edu	37	chr5	180582647	180582647	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcactctgctcaggcctgGaaaaaggccctggccacctg	11	14	2	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr5:180582647G>A	ENST00000328275.1	+	1	705	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCAGGCCTGGAAAAAGGCCC	0.567																																																	0								ENSG00000182613						145	140	142					5																	180582647		2203	4300	6503	OR2V2	SO:0001587	stop_gained	0			-	HGNC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.705G>A	5.37:g.180582647G>A	ENSP00000332185:p.Trp235*	Somatic	0	73	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	Q6IFL6|Q8NGV1	Nonsense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W235*	ENST00000328275.1	37	c.705	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	4.556	0.103235	0.08731	.	.	ENSG00000182613	ENST00000328275	.	.	.	3.48	-6.95	0.01628	.	2.265590	0.02537	N	0.094241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.4091	0.21680	0.1086:0.0964:0.6352:0.1597	.	.	.	.	X	235	.	ENSP00000332185:W235X	W	+	3	0	OR2V2	180515253	0.000000	0.05858	0.004000	0.12327	0.079000	0.17450	-1.623000	0.02040	-1.089000	0.03073	0.305000	0.20034	TGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.567	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	protein_coding	OTTHUMT00000253529.1	G		-		180582647	1	no_errors	ENST00000328275	ensembl	human	known	74_37	nonsense	SNP	0.005	A	A	180582647	G	A	180582647	4	1	234	1	0	0	0	0	0	1	0	0	11033	1183	41	2	707	2	OR2V2	5	180582647	Nonsense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	29738524	180582647	332613	39	18927											
SCAND3	114821	genome.wustl.edu	37	chr6	28554200	28554200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggatggtcaggaactGctccagcaccaacaattcca	10	12	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:28554200G>T	ENST00000452236.2	-	1	912	c.295C>A	c.(295-297)Cag>Aag	p.Q99K	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	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						GTCAGGAACTGCTCCAGCACC	0.552																																																	0								ENSG00000232040						108	108	108					6																	28554200		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.295C>A	6.37:g.28554200G>T	ENSP00000395259:p.Gln99Lys	Somatic	0	67	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85		Missense_Mutation	SNP							pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.Q99K	ENST00000452236.2	37	c.295	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100950	0.76983	.	.	ENSG00000232040	ENST00000452236	T	0.16324	2.35	3.46	3.46	0.39613	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.37945	0.1022	M	0.91459	3.21	0.30929	N	0.727151	P	0.51537	0.946	D	0.69307	0.963	T	0.32851	-0.9891	9	0.87932	D	0	.	12.8515	0.57860	0.0:0.0:1.0:0.0	.	99	Q6R2W3	SCND3_HUMAN	K	99	ENSP00000395259:Q99K	ENSP00000395259:Q99K	Q	-	1	0	SCAND3	28662179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.615000	0.67702	1.938000	0.56188	0.655000	0.94253	CAG	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.552	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	G		-		28554200	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28554200	G	T	28554200	3	4	234	1	0	0	0	0	1	0	0	0	13884	1328	46	3	3698	3	SCAND3	6	28554200	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		28554200	142560867	40	18928											
PSMB9	5698	genome.wustl.edu	37	chr6	32825819	32825819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccacttgttttggctgctGcaaatgtggtgagaaatatc	10	8	0	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:32825819G>T	ENST00000374859.2	+	4	367	c.298G>T	c.(298-300)Gca>Tca	p.A100S	PSMB9_ENST00000395330.1_Missense_Mutation_p.A77S|PSMB9_ENST00000453265.2_Missense_Mutation_p.A56S	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	100					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	TTTGGCTGCTGCAAATGTGGT	0.423																																																	0								ENSG00000240065						109	111	111					6																	32825819		1510	2709	4219	PSMB9	SO:0001583	missense	0			-	HGNC		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"Proteasome (prosome, macropain) subunits"	9546	protein-coding gene	gene with protein product		177045	"proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)", "large multifunctional peptidase 2"	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.298G>T	6.37:g.32825819G>T	ENSP00000363993:p.Ala100Ser	Somatic	0	46	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP							pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.A100S	ENST00000374859.2	37	c.298	CCDS4759.1	6	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809455	0.90707	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	L	0.43701	1.375	0.58432	D	0.999998	D;D	0.89917	1.0;0.99	D;D	0.91635	0.999;0.991	T	0.49908	-0.8889	10	0.62326	D	0.03	-14.8072	15.8988	0.79356	0.0:0.0:1.0:0.0	.	56;100	B4DZW2;P28065	.;PSB9_HUMAN	S	77;77;100;56;56	ENSP00000378739:A77S;ENSP00000394363:A77S;ENSP00000363993:A100S;ENSP00000394773:A56S	ENSP00000363993:A100S	A	+	1	0	PSMB9	32933797	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	8.379000	0.90146	2.619000	0.88677	0.638000	0.83543	GCA	-	pfam_Proteasome_sua/b		0.423	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	protein_coding	OTTHUMT00000076624.5	G	NM_002800	-		32825819	1	no_errors	ENST00000374859	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32825819	G	T	32825819	3	4	234	1	0	0	0	0	1	0	0	0	12689	1319	46	3	312	3	PSMB9	6	32825819	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	4271619	32825819	138289248	41	18929											
MYO6	4646	genome.wustl.edu	37	chr6	76568652	76568652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacagttttgaacaattttGcatcaactattgcaatgaaa	5	6	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:76568652G>T	ENST00000369977.3	+	14	1554	c.1415G>T	c.(1414-1416)tGc>tTc	p.C472F	MYO6_ENST00000369985.4_Missense_Mutation_p.C472F|MYO6_ENST00000369975.1_Missense_Mutation_p.C472F|MYO6_ENST00000369981.3_Missense_Mutation_p.C472F	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	472	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAACAATTTTGCATCAACTAT	0.279																																																	0								ENSG00000196586						48	48	48					6																	76568652		2201	4286	6487	MYO6	SO:0001583	missense	0			-	HGNC	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1415G>T	6.37:g.76568652G>T	ENSP00000358994:p.Cys472Phe	Somatic	0	43	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.C472F	ENST00000369977.3	37	c.1415	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792955	0.90453	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	6.08	6.08	0.98989	.	0.040549	0.85682	D	0.000000	D	0.89491	0.6730	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90456	0.4442	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	472;472	Q9UM54-2;Q9UM54-1	.;.	F	472	ENSP00000358998:C472F;ENSP00000359002:C472F;ENSP00000358994:C472F;ENSP00000358992:C472F	ENSP00000358992:C472F	C	+	2	0	MYO6	76625372	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.444000	0.97578	2.894000	0.99253	0.655000	0.94253	TGC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.279	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	protein_coding	OTTHUMT00000041279.2	G	NM_004999	-		76568652	1	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	SNP	1.000	T	T	76568652	G	T	76568652	3	4	234	1	0	0	0	0	1	0	0	0	10083	1319	46	3	1465	3	MYO6	6	76568652	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	43742833	76568652	94546415	42	18930											
UBE2J1	51465	genome.wustl.edu	37	chr6	90045027	90045027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatttatagtaccttaaaGcttatttgcctagccagttc	6	8	0	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:90045027G>T	ENST00000435041.2	-	6	830	c.552C>A	c.(550-552)agC>agA	p.S184R		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	184					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GTACCTTAAAGCTTATTTGCC	0.398																																																	0								ENSG00000198833						91	93	92					6																	90045027		2203	4300	6503	UBE2J1	SO:0001583	missense	0			-	HGNC	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"Ubiquitin-conjugating enzymes E2"	17598	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.552C>A	6.37:g.90045027G>T	ENSP00000451261:p.Ser184Arg	Somatic	0	53	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	20.83	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP							pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S184R	ENST00000435041.2	37	c.552	CCDS5021.1	6	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139528	0.37728	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.64803	-0.12	6.03	3.64	0.41730	Ubiquitin-conjugating enzyme/RWD-like (1);	0.119583	0.85682	D	0.000000	T	0.39600	0.1084	M	0.68952	2.095	0.48288	D	0.999622	B	0.14805	0.011	B	0.14578	0.011	T	0.27123	-1.0083	10	0.29301	T	0.29	-8.979	9.2316	0.37441	0.7802:0.0:0.2198:0.0	.	184	Q9Y385	UB2J1_HUMAN	R	184;169	ENSP00000451261:S184R	ENSP00000354684:S184R	S	-	3	2	UBE2J1	90101746	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	0.971000	0.29396	0.532000	0.28657	-0.351000	0.07748	AGC	-	NULL		0.398	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2J1	protein_coding	OTTHUMT00000043742.2	G	NM_016021	-		90045027	-1	no_errors	ENST00000435041	ensembl	human	known	74_37	missense	SNP	1.000	T	T	90045027	G	T	90045027	3	4	234	1	0	0	0	0	1	0	0	0	16867	962	34	3	416	3	UBE2J1	6	90045027	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	13476375	90045027	81070040	43	18931											
RTN4IP1	84816	genome.wustl.edu	37	chr6	107050756	107050756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatggttttacctgtataGcaaaagtaccaactccgcct	6	10	0	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:107050756G>T	ENST00000369063.3	-	5	1127	c.662C>A	c.(661-663)gCt>gAt	p.A221D	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	221						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TACCTGTATAGCAAAAGTACC	0.328																																																	0								ENSG00000130347						74	77	76					6																	107050756		2203	4300	6503	RTN4IP1	SO:0001583	missense	0			-	HGNC	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.662C>A	6.37:g.107050756G>T	ENSP00000358059:p.Ala221Asp	Somatic	0	49	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP							pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.A221D	ENST00000369063.3	37	c.662	CCDS5056.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071848	0.76301	.	.	ENSG00000130347	ENST00000369063	T	0.57595	0.39	4.91	4.91	0.64330	Alcohol dehydrogenase, C-terminal (1);Quinone oxidoreductase/zeta-crystallin, conserved site (1);NAD(P)-binding domain (1);	0.049845	0.85682	D	0.000000	T	0.81197	0.4772	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88224	0.2899	10	0.87932	D	0	-22.4183	14.9401	0.70986	0.0:0.0:1.0:0.0	.	221	Q8WWV3	RT4I1_HUMAN	D	221	ENSP00000358059:A221D	ENSP00000358059:A221D	A	-	2	0	RTN4IP1	107157449	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.135000	0.64777	2.557000	0.86248	0.585000	0.79938	GCT	-	pfam_ADH_C,smart_PKS_ER		0.328	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	protein_coding	OTTHUMT00000041673.1	G		-		107050756	-1	no_errors	ENST00000369063	ensembl	human	known	74_37	missense	SNP	1.000	T	T	107050756	G	T	107050756	3	4	234	1	0	0	0	0	1	0	0	0	13737	971	34	3	548	3	RTN4IP1	6	107050756	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	17005729	107050756	64064311	44	18932											
SEC63	11231	genome.wustl.edu	37	chr6	108243017	108243017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacgcagcataagcttttgCtatcctcatgaacataacct	5	11	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:108243017C>T	ENST00000369002.4	-	4	615	c.436G>A	c.(436-438)Gca>Aca	p.A146T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	146	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TAAGCTTTTGCTATCCTCATG	0.393																																																	0								ENSG00000025796						203	183	190					6																	108243017		2203	4300	6503	SEC63	SO:0001583	missense	0			-	HGNC	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.436G>A	6.37:g.108243017C>T	ENSP00000357998:p.Ala146Thr	Somatic	0	54	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP							pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.A146T	ENST00000369002.4	37	c.436	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056366	0.55325	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	T;T	0.30714	1.52;1.52	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	N	0.03881	-0.34	0.80722	D	1	P;D	0.69078	0.623;0.997	P;D	0.83275	0.456;0.996	T	0.06267	-1.0836	10	0.02654	T	1	-15.3812	17.4917	0.87705	0.0:1.0:0.0:0.0	.	146;146	Q9UGP8;B3KQF0	SEC63_HUMAN;.	T	146;6;90	ENSP00000357998:A146T;ENSP00000403144:A90T	ENSP00000357998:A146T	A	-	1	0	SEC63	108349710	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.152000	0.77419	2.556000	0.86216	0.650000	0.86243	GCA	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain		0.393	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	protein_coding	OTTHUMT00000041705.4	C	NM_007214	-		108243017	-1	no_errors	ENST00000369002	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108243017	C	T	108243017	3	4	234	1	0	0	0	0	1	0	0	0	14013	797	28	2	1918	2	SEC63	6	108243017	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	1192261	108243017	62872050	45	18933											
REV3L	5980	genome.wustl.edu	37	chr6	111636558	111636558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttaaaagactgctccttaGtggctcctttcagtagcaca	7	11	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:111636558G>T	ENST00000358835.3	-	28	8832	c.8378C>A	c.(8377-8379)aCt>aAt	p.T2793N	REV3L_ENST00000368805.1_Missense_Mutation_p.T2793N|REV3L_ENST00000368802.3_Missense_Mutation_p.T2793N|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.T2715N|RP5-1112D6.8_ENST00000607434.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2793					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGCTCCTTAGTGGCTCCTTT	0.353								DNA polymerases (catalytic subunits)																																									0								ENSG00000009413						71	64	66					6																	111636558		2203	4300	6503	REV3L	SO:0001583	missense	0			-	HGNC	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8378C>A	6.37:g.111636558G>T	ENSP00000351697:p.Thr2793Asn	Somatic	0	39	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O43214|Q5TC33	Missense_Mutation	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.T2793N	ENST00000358835.3	37	c.8378	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939637	0.92526	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.51	5.51	0.81932	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.127436	0.52532	D	0.000075	T	0.22475	0.0542	M	0.64404	1.975	0.53688	D	0.999976	P	0.42123	0.771	P	0.51516	0.672	T	0.00719	-1.1595	10	0.25106	T	0.35	-6.9829	19.415	0.94690	0.0:0.0:1.0:0.0	.	2793	O60673	DPOLZ_HUMAN	N	2793;2793;2793;2715	ENSP00000357792:T2793N;ENSP00000357795:T2793N;ENSP00000351697:T2793N;ENSP00000402003:T2715N	ENSP00000351697:T2793N	T	-	2	0	REV3L	111743251	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.872000	0.87187	2.600000	0.87896	0.650000	0.86243	ACT	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	G	NM_002912	-		111636558	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	SNP	1.000	T	T	111636558	G	T	111636558	3	4	234	1	0	0	0	0	1	0	0	0	13248	1029	36	3	1038	3	REV3L	6	111636558	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	3393541	111636558	59478509	46	18934											
TMEM200A	114801	genome.wustl.edu	37	chr6	130762280	130762280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgttaaatgaaggtaagaGttctgggcatcttatgcccc	10	7	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:130762280G>C	ENST00000296978.3	+	3	1584	c.713G>C	c.(712-714)aGt>aCt	p.S238T	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S238T|TMEM200A_ENST00000392429.1_Missense_Mutation_p.S238T	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	238						integral component of membrane (GO:0016021)				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)		GAAGGTAAGAGTTCTGGGCAT	0.493																																																	0								ENSG00000164484						67	64	65					6																	130762280		2203	4300	6503	TMEM200A	SO:0001583	missense	0			-	HGNC	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.713G>C	6.37:g.130762280G>C	ENSP00000296978:p.Ser238Thr	Somatic	0	39	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q96PX5	Missense_Mutation	SNP							pfam_DUF2371_TMEM200	p.S238T	ENST00000296978.3	37	c.713	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	G	0.426	-0.905837	0.02453	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	3.1	0.35709	.	0.574086	0.20413	N	0.092840	T	0.10637	0.0260	L	0.31664	0.95	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	9	0.21540	T	0.41	-23.7235	7.0026	0.24817	0.2048:0.3516:0.4436:0.0	.	238	Q86VY9	T200A_HUMAN	T	238	.	ENSP00000296978:S238T	S	+	2	0	TMEM200A	130803973	0.950000	0.32346	0.858000	0.33744	0.217000	0.24651	1.534000	0.36051	0.800000	0.34041	0.655000	0.94253	AGT	-	NULL		0.493	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	protein_coding	OTTHUMT00000042201.1	G	NM_052913	-		130762280	1	no_errors	ENST00000296978	ensembl	human	known	74_37	missense	SNP	0.372	C	C	130762280	G	C	130762280	3	2	234	1	0	0	0	0	1	0	0	0	16130	1029	36	4	715	4	TMEM200A	6	130762280	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	19125722	130762280	40352787	47	18935											
STX7	8417	genome.wustl.edu	37	chr6	132781974	132781974	+	Frame_Shift_Del	DEL	T	T	-													aagaatgatgatgcacagggTttttctggatttgcgctgca							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:132781974delT	ENST00000367941.2	-	10	822	c.709delA	c.(709-711)accfs	p.T237fs		NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	237					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATGCACAGGGTTTTTCTGGAT	0.378																																																	0								ENSG00000079950						128	116	120					6																	132781974		2203	4300	6503	STX7	SO:0001589	frameshift_variant	0				HGNC	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.709delA	6.37:g.132781974delT	ENSP00000356918:p.Thr237fs	Somatic	0	43	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	E1P579|Q5SZW2|Q96ES9	Frame_Shift_Del	DEL							pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.T237fs	ENST00000367941.2	37	c.709	CCDS5153.1	6																																																																																			-	NULL		0.378	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STX7	protein_coding	OTTHUMT00000042252.2	T				132781974	-1	no_errors	ENST00000367941	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	132781974	T	-	132781974	7	5	234	1	0	1	0	1	0	0	0	0	15357	1725	60	0	80	0	STX7	6	132781974	Frame_Shift_Del	DEL	T	TCGA-X6-A8C2-01A-11D-A36J-09	2019694	132781974	38333093	48	18936											
REPS1	85021	genome.wustl.edu	37	chr6	139308791	139308791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctgaatagtatttctgcTccgcatcgctcagcgttaag	9	10	3	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr6:139308791T>C	ENST00000450536.2	-	1	603	c.29A>G	c.(28-30)gAg>gGg	p.E10G	REPS1_ENST00000258062.5_Missense_Mutation_p.E10G|REPS1_ENST00000531675.1_5'UTR|REPS1_ENST00000415951.2_Missense_Mutation_p.E10G|REPS1_ENST00000409812.2_Missense_Mutation_p.E10G|REPS1_ENST00000367663.4_Missense_Mutation_p.E10G			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	10	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTATTTCTGCTCCGCATCGCT	0.647																																																	0								ENSG00000135597						65	69	67					6																	139308791		692	1591	2283	REPS1	SO:0001583	missense	0			-	HGNC		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.29A>G	6.37:g.139308791T>C	ENSP00000392065:p.Glu10Gly	Somatic	0	36	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP							smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.E10G	ENST00000450536.2	37	c.29		6	.	.	.	.	.	.	.	.	.	.	t	24.7	4.555605	0.86231	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000409812;ENST00000258062;ENST00000415951	T;T;T;T;T	0.47869	0.85;0.84;0.85;0.83;0.84	3.87	3.87	0.44632	EPS15 homology (EH) (2);EF-hand-like domain (1);	.	.	.	.	T	0.58323	0.2114	M	0.77103	2.36	0.52501	D	0.999958	D;D;D;D	0.76494	0.999;0.999;0.982;0.998	D;D;P;D	0.75484	0.986;0.986;0.624;0.968	T	0.63857	-0.6542	9	0.59425	D	0.04	.	11.0647	0.47968	0.0:0.0:0.0:1.0	.	10;10;10;10	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	G	10	ENSP00000392065:E10G;ENSP00000356635:E10G;ENSP00000386699:E10G;ENSP00000258062:E10G;ENSP00000397941:E10G	ENSP00000258062:E10G	E	-	2	0	REPS1	139350484	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.099000	0.71466	1.617000	0.50277	0.338000	0.21704	GAG	-	smart_EPS15_homology,pfscan_EPS15_homology		0.647	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	protein_coding	OTTHUMT00000042447.3	T		-		139308791	-1	no_errors	ENST00000450536	ensembl	human	known	74_37	missense	SNP	1.000	C	C	139308791	T	C	139308791	3	2	234	1	0	0	0	0	1	0	0	0	13236	1551	54	5	2441	5	REPS1	6	139308791	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	6526817	139308791	31806276	49	18937											
SLC12A9	56996	genome.wustl.edu	37	chr7	100459181	100459192	+	In_Frame_Del	DEL	TCAGCCAGGCCT	TCAGCCAGGCCT	-													ccccagtagctggggctatgTcagccaggccttgcttttcc					rs548604660	byFrequency	TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	TCAGCCAGGCCT	TCAGCCAGGCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr7:100459181_100459192delTCAGCCAGGCCT	ENST00000354161.3	+	11	1636_1647	c.1511_1522delTCAGCCAGGCCT	c.(1510-1524)gtcagccaggccttg>gtg	p.SQAL505del	SLC12A9_ENST00000415287.1_In_Frame_Del_p.SQAL416del|SLC12A9_ENST00000428758.1_In_Frame_Del_p.SQAL505del|SLC12A9_ENST00000540482.1_In_Frame_Del_p.SQAL505del|SLC12A9_ENST00000275729.3_In_Frame_Del_p.SQAL416del	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	505					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGGCTATGTCAGCCAGGCCTTGCTTTTCCA	0.642																																																	0								ENSG00000146828																																			SLC12A9	SO:0001651	inframe_deletion	0				HGNC	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1511_1522delTCAGCCAGGCCT	7.37:g.100459181_100459192delTCAGCCAGGCCT	ENSP00000275730:p.Ser505_Leu508del	Somatic					0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	In_Frame_Del	DEL							pfam_AA-permease/SLC12A_dom	p.SQAL505in_frame_del	ENST00000354161.3	37	c.1511_1522	CCDS5707.1	7																																																																																			-	pfam_AA-permease/SLC12A_dom		0.642	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	protein_coding	OTTHUMT00000342837.1	TCAGCCAGGCCT	NM_020246			100459192	1	no_errors	ENST00000354161	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.992:0.999	-	-	100459192	TCAGCCAGGCCT	-	100459181	7	5	234	1	0	1	0	1	0	0	0	0	14398	1667	58	0	1549	0	SLC12A9	7	100459181	In_Frame_Del	DEL	TCAGCCAGGCCT	TCGA-X6-A8C2-01A-11D-A36J-09		100459181	58679482	50	18938											
OR6V1	346517	genome.wustl.edu	37	chr7	142749718	142749718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcattaccttcactgGctgcatggtccagttctact	7	12	3	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr7:142749718G>A	ENST00000418316.1	+	1	302	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ACCTTCACTGGCTGCATGGTC	0.542																																																	0								ENSG00000225781						184	187	186					7																	142749718		2122	4251	6373	OR6V1	SO:0001583	missense	0			-	HGNC		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.281G>A	7.37:g.142749718G>A	ENSP00000396085:p.Gly94Asp	Somatic	0	78	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G94D	ENST00000418316.1	37	c.281	CCDS47728.1	7	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576708	0.28092	.	.	ENSG00000225781	ENST00000418316	T	0.09723	2.95	4.53	0.154	0.14901	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11495	0.0280	M	0.74389	2.26	0.09310	N	1	B	0.31054	0.306	B	0.30646	0.118	T	0.30149	-0.9988	9	0.44086	T	0.13	.	2.1068	0.03693	0.1955:0.15:0.5007:0.1538	.	94	Q8N148	OR6V1_HUMAN	D	94	ENSP00000396085:G94D	ENSP00000396085:G94D	G	+	2	0	OR6V1	142459840	0.321000	0.24625	0.055000	0.19348	0.994000	0.84299	1.629000	0.37071	0.115000	0.18071	0.655000	0.94253	GGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	protein_coding	OTTHUMT00000350860.1	G		-		142749718	1	no_errors	ENST00000418316	ensembl	human	known	74_37	missense	SNP	0.071	A	A	142749718	G	A	142749718	3	1	234	1	0	0	0	0	1	0	0	0	11213	1203	42	2	283	2	OR6V1	7	142749718	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	42290537	142749718	16388945	51	18939											
TPK1	27010	genome.wustl.edu	37	chr7	144345963	144345963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtctccattgatgaattcAggcaaaaagctgaaagaaac	8	7	2	4			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr7:144345963A>G	ENST00000360057.3	-	5	297	c.195T>C	c.(193-195)ccT>ccC	p.P65P	TPK1_ENST00000538212.2_Silent_p.P60P|TPK1_ENST00000378099.3_Silent_p.P65P|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	65					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TGATGAATTCAGGCAAAAAGC	0.318																																					Ovarian(45;88 1034 2073 5829 28455)												0								ENSG00000196511						96	108	104					7																	144345963		2203	4300	6503	TPK1	SO:0001819	synonymous_variant	0			-	HGNC	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.195T>C	7.37:g.144345963A>G		Somatic	0	83	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP							NULL	p.L20P	ENST00000360057.3	37	c.59	CCDS5888.1	7																																																																																			-	NULL		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	protein_coding	OTTHUMT00000327777.1	A	NM_022445	-		144345963	-1	no_errors	ENST00000489798	ensembl	human	known	74_37	missense	SNP	0.998	G	G	144345963	A	G	144345963	2	3	234	1	0	0	0	0	0	0	0	1	16411	175	7	5		5	TPK1	7	144345963	Silent	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	1596245	144345963	14792700	52	18940											
AGAP3	116988	genome.wustl.edu	37	chr7	150814543	150814543	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcccccctgagctccaGgtgatgctcctgcccagggt	14	15	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr7:150814543G>T	ENST00000397238.2	+	4	564	c.564G>T	c.(562-564)caG>caT	p.Q188H	AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000479901.1_Splice_Site_p.Q188H|AGAP3_ENST00000473312.1_Splice_Site_p.Q188H|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000335367.3_Splice_Site_p.Q368H	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	152	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTGAGCTCCAGGTGATGCTCC	0.617																																																	0								ENSG00000133612						75	83	81					7																	150814543		2036	4207	6243	AGAP3	SO:0001630	splice_region_variant	0			-	HGNC	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.564+1G>T	7.37:g.150814543G>T		Somatic	0	52	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP							pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.Q188H	ENST00000397238.2	37	c.564	CCDS43681.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.502210|4.502210	0.85176|0.85176	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367|ENST00000469901	T;T;T;T|.	0.66638|.	-0.22;-0.22;-0.22;-0.22|.	3.37|3.37	3.37|3.37	0.38596|0.38596	.|.	0.363225|.	0.26341|.	N|.	0.024938|.	T|T	0.75810|0.75810	0.3900|0.3900	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.71674|.	0.998;0.476;0.997;0.997|.	D;P;D;D|.	0.68039|.	0.955;0.63;0.928;0.929|.	T|T	0.78583|0.78583	-0.2148|-0.2148	10|5	0.87932|.	D|.	0|.	.|.	13.144|13.144	0.59450|0.59450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;368;188;188|.	C9J975;E7ESL9;Q96P47-4;E9PAL8|.	.;.;.;.|.	H|I	188;188;188;152;368|124	ENSP00000418921:Q188H;ENSP00000418125:Q188H;ENSP00000380413:Q188H;ENSP00000335589:Q368H|.	ENSP00000334157:Q152H|.	Q|S	+|+	3|2	2|0	AGAP3|AGAP3	150445476|150445476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.832000|7.832000	0.86757|0.86757	2.227000|2.227000	0.72691|0.72691	0.400000|0.400000	0.26472|0.26472	CAG|AGT	-	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase		0.617	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP3	protein_coding	OTTHUMT00000351908.3	G	NM_031946	-	Missense_Mutation	150814543	1	no_errors	ENST00000397238	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150814543	G	T	150814543	5	4	234	1	0	0	0	0	0	0	1	0	369	1014	35	3	578	3	AGAP3	7	150814543	Splice_Site	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	6468580	150814543	8324120	53	18941											
UBE3C	9690	genome.wustl.edu	37	chr7	156994425	156994425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttaggcttctctacAgtttagcctttaatgccagg	7	10	1	0	rs376738509		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr7:156994425A>T	ENST00000348165.5	+	11	1702	c.1342A>T	c.(1342-1344)Agt>Tgt	p.S448C		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	448					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCTTCTCTACAGTTTAGCCTT	0.308																																																	0								ENSG00000009335						149	134	139					7																	156994425		2203	4300	6503	UBE3C	SO:0001583	missense	0			-	HGNC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1342A>T	7.37:g.156994425A>T	ENSP00000309198:p.Ser448Cys	Somatic	0	48	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP							pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.S448C	ENST00000348165.5	37	c.1342	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542095	0.85917	.	.	ENSG00000009335	ENST00000348165	T	0.46819	0.86	5.74	5.74	0.90152	.	0.082328	0.85682	D	0.000000	T	0.64929	0.2643	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.64144	0.922;0.904	T	0.64271	-0.6447	10	0.39692	T	0.17	-24.5531	16.0456	0.80720	1.0:0.0:0.0:0.0	.	448;448	Q15386;Q15386-2	UBE3C_HUMAN;.	C	448	ENSP00000309198:S448C	ENSP00000309198:S448C	S	+	1	0	UBE3C	156687186	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.437000	0.90302	2.193000	0.70182	0.482000	0.46254	AGT	-	NULL		0.308	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	protein_coding	OTTHUMT00000348108.1	A	NM_014671	-		156994425	1	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	SNP	1.000	T	T	156994425	A	T	156994425	3	4	234	1	0	0	0	0	1	0	0	0	16888	188	7	5	1384	5	UBE3C	7	156994425	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	6179882	156994425	2144238	54	18942											
CDCA2	157313	genome.wustl.edu	37	chr8	25337454	25337454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgctgactgtgtagtGggcaaaggatcaagtgatgc	15	5	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr8:25337454G>A	ENST00000330560.3	+	8	1323	c.846G>A	c.(844-846)gtG>gtA	p.V282V	CDCA2_ENST00000380665.3_Silent_p.V267V|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	282					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACTGTGTAGTGGGCAAAGGAT	0.453																																																	0								ENSG00000184661						127	106	113					8																	25337454		2203	4300	6503	CDCA2	SO:0001819	synonymous_variant	0			-	HGNC	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.846G>A	8.37:g.25337454G>A		Somatic	0	57	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP							NULL	p.V282	ENST00000330560.3	37	c.846	CCDS6049.1	8																																																																																			-	NULL		0.453	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	protein_coding	OTTHUMT00000216891.3	G	NM_152562	-		25337454	1	no_errors	ENST00000330560	ensembl	human	known	74_37	silent	SNP	0.002	A	A	25337454	G	A	25337454	2	1	234	1	0	0	0	0	0	0	0	1	3088	1335	47	2		2	CDCA2	8	25337454	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		25337454	121026568	55	18943											
PLEKHA2	59339	genome.wustl.edu	37	chr8	38793524	38793524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttcagaatctggcaatgGgggcaggagctgttggagct	15	7	3	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr8:38793524G>C	ENST00000521746.1	+	3	388	c.154G>C	c.(154-156)Ggg>Cgg	p.G52R	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Missense_Mutation_p.G52R			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	52	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCTGGCAATGGGGGCAGGAGC	0.453																																																	0								ENSG00000169499						138	136	136					8																	38793524		1916	4135	6051	PLEKHA2	SO:0001583	missense	0			-	HGNC	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.154G>C	8.37:g.38793524G>C	ENSP00000430938:p.Gly52Arg	Somatic	0	86	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	5	73.68		Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G52R	ENST00000521746.1	37	c.154		8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059180	0.76074	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000535929;ENST00000519640	T;T;T	0.74526	-0.85;-0.85;-0.85	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85090	0.0951	10	0.87932	D	0	.	15.8585	0.79005	0.0:0.0:1.0:0.0	.	52;52	Q9HB19;A8K727	PKHA2_HUMAN;.	R	52;52;2;52	ENSP00000430938:G52R;ENSP00000393860:G52R;ENSP00000429956:G52R	ENSP00000393860:G52R	G	+	1	0	PLEKHA2	38912681	0.999000	0.42202	0.963000	0.40424	0.819000	0.46315	3.458000	0.53014	2.890000	0.99128	0.655000	0.94253	GGG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.453	PLEKHA2-002	PUTATIVE	basic	protein_coding	PLEKHA2	protein_coding	OTTHUMT00000377068.1	G	NM_021623	-		38793524	1	no_errors	ENST00000420274	ensembl	human	known	74_37	missense	SNP	0.986	C	C	38793524	G	C	38793524	3	2	234	1	0	0	0	0	1	0	0	0	12058	1232	43	4	160	4	PLEKHA2	8	38793524	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	13456070	38793524	107570498	56	18944											
COL22A1	169044	genome.wustl.edu	37	chr8	139611094	139611094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagggtccccaggctgGccttttccaccaggaggtcc	11	15	0	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr8:139611094G>A	ENST00000303045.6	-	61	4679	c.4233C>T	c.(4231-4233)ggC>ggT	p.G1411G	COL22A1_ENST00000435777.1_Silent_p.G1391G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1411	Collagen-like 14.|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)			CCCCAGGCTGGCCTTTTCCAC	0.587										HNSCC(7;0.00092)																																							0								ENSG00000169436						59	57	58					8																	139611094		2203	4300	6503	COL22A1	SO:0001819	synonymous_variant	0			-	HGNC	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.4233C>T	8.37:g.139611094G>A		Somatic	0	85	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP							pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1411	ENST00000303045.6	37	c.4233	CCDS6376.1	8																																																																																			-	pfam_Collagen		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	G	XM_291257	-		139611094	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	silent	SNP	0.964	A	A	139611094	G	A	139611094	2	1	234	1	0	0	0	0	0	0	0	1	3683	1190	42	2		2	COL22A1	8	139611094	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	100817570	139611094	6752928	57	18945											
SLURP1	57152	genome.wustl.edu	37	chr8	143823300	143823300	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtcctgcaggaagcactGgtcatgggctccttgcaggt	14	10	1	0	rs187775640		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr8:143823300G>T	ENST00000246515.1	-	2	124	c.99C>A	c.(97-99)acC>acA	p.T33T		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	33	UPAR/Ly6.				cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGAAGCACTGGTCATGGGCT	0.637																																																	0								ENSG00000126233						102	95	97					8																	143823300		2202	4299	6501	SLURP1	SO:0001819	synonymous_variant	0			-	HGNC	AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"lymphocyte antigen 6-like secreted", "ARS component B"	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.99C>A	8.37:g.143823300G>T		Somatic	0	62	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q53YJ6|Q6PUA6|Q92483	Silent	SNP							pfam_LY6_UPAR	p.T33	ENST00000246515.1	37	c.99	CCDS6387.1	8																																																																																			-	pfam_LY6_UPAR		0.637	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLURP1	protein_coding	OTTHUMT00000379741.1	G	NM_020427	-		143823300	-1	no_errors	ENST00000246515	ensembl	human	known	74_37	silent	SNP	0.000	T	T	143823300	G	T	143823300	2	4	234	1	0	0	0	0	0	0	0	1	14764	1335	47	3		3	SLURP1	8	143823300	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	4212206	143823300	2540722	58	18946											
PARP10	84875	genome.wustl.edu	37	chr8	145059071	145059071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcctgcaaccccacagGcctcaggcttaccagcccct	7	19	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr8:145059071G>T	ENST00000313028.7	-	5	1193	c.1099C>A	c.(1099-1101)Cct>Act	p.P367T	PARP10_ENST00000524918.1_Missense_Mutation_p.P367T|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.P379T	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	367					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACCCCACAGGCCTCAGGCTT	0.647																																																	0								ENSG00000178685						75	82	79					8																	145059071		2203	4300	6503	PARP10	SO:0001583	missense	0			-	HGNC	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1099C>A	8.37:g.145059071G>T	ENSP00000325618:p.Pro367Thr	Somatic	0	71	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.P367T	ENST00000313028.7	37	c.1099	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174578	0.06421	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.32272	2.9;2.94;2.93;1.46	3.72	-7.44	0.01379	.	1.372090	0.05428	N	0.545359	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.25047	-1.0143	10	0.10111	T	0.7	.	4.392	0.11344	0.267:0.0:0.2631:0.4698	.	379;367;367	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	T	367;73;367;379;282	ENSP00000431620:P367T;ENSP00000325618:P367T;ENSP00000434776:P379T;ENSP00000314320:P282T	ENSP00000325618:P367T	P	-	1	0	PARP10	145131059	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-4.769000	0.00188	-1.293000	0.02362	-0.327000	0.08410	CCT	-	NULL		0.647	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	protein_coding	OTTHUMT00000383866.1	G	NM_032789	-		145059071	-1	no_errors	ENST00000313028	ensembl	human	known	74_37	missense	SNP	0.000	T	T	145059071	G	T	145059071	3	4	234	1	0	0	0	0	1	0	0	0	11457	1203	42	3	2006	3	PARP10	8	145059071	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	1235771	145059071	1304951	59	18947											
IFNA1	3439	genome.wustl.edu	37	chr9	21440957	21440957	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaatacttccgaagaatcActctctatctgacagagaag	7	9	3	4			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr9:21440957A>T	ENST00000276927.1	+	1	518	c.451A>T	c.(451-453)Act>Tct	p.T151S		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	151					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CCGAAGAATCACTCTCTATCT	0.473																																																	0								ENSG00000197919						39	47	44					9																	21440957		2166	4251	6417	IFNA1	SO:0001583	missense	0			-	HGNC		CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"Interferons"	5417	protein-coding gene	gene with protein product	"IFN-alpha 1b", "interferon alpha 1b"	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.451A>T	9.37:g.21440957A>T	ENSP00000276927:p.Thr151Ser	Somatic	0	42	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.T151S	ENST00000276927.1	37	c.451	CCDS6508.1	9	.	.	.	.	.	.	.	.	.	.	A	10.95	1.497007	0.26861	.	.	ENSG00000197919	ENST00000276927	T	0.03272	3.99	3.21	-6.43	0.01926	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.100060	0.06754	N	0.780602	T	0.02807	0.0084	L	0.39633	1.23	0.09310	N	1	B	0.06786	0.001	B	0.17433	0.018	T	0.43861	-0.9365	10	0.23302	T	0.38	.	2.8643	0.05596	0.2434:0.445:0.0878:0.2238	.	151	P01562	IFNA1_HUMAN	S	151	ENSP00000276927:T151S	ENSP00000276927:T151S	T	+	1	0	IFNA1	21430957	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-3.705000	0.00388	-2.343000	0.00623	0.491000	0.48974	ACT	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta		0.473	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA1	protein_coding	OTTHUMT00000051902.1	A	NM_024013	-		21440957	1	no_errors	ENST00000276927	ensembl	human	known	74_37	missense	SNP	0.000	T	T	21440957	A	T	21440957	3	4	234	1	0	0	0	0	1	0	0	0	7533	159	6	5	453	5	IFNA1	9	21440957	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09		21440957	119772474	60	18948											
IFT74	80173	genome.wustl.edu	37	chr9	27062724	27062724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctttacatagcaccaGcggaaactgagtttaagtcc	10	9	0	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr9:27062724G>A	ENST00000443698.1	+	20	1964	c.1793G>A	c.(1792-1794)aGc>aAc	p.S598N	IFT74_ENST00000433700.1_Missense_Mutation_p.S598N|IFT74_ENST00000380062.5_Missense_Mutation_p.S598N	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	598					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CATAGCACCAGCGGAAACTGA	0.383																																																	0								ENSG00000096872						94	86	88					9																	27062724		1862	4093	5955	IFT74	SO:0001583	missense	0			-	HGNC	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1793G>A	9.37:g.27062724G>A	ENSP00000404122:p.Ser598Asn	Somatic	0	70	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP							NULL	p.S598N	ENST00000443698.1	37	c.1793	CCDS43793.1	9	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906544	0.33628	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.12672	2.66;2.66;2.66	6.05	4.17	0.49024	.	0.496219	0.23041	N	0.052614	T	0.06645	0.0170	N	0.08118	0	0.21445	N	0.999689	B	0.13594	0.008	B	0.12156	0.007	T	0.21177	-1.0253	10	0.52906	T	0.07	-0.4281	5.8692	0.18795	0.1946:0.1524:0.653:0.0	.	598	Q96LB3	IFT74_HUMAN	N	598	ENSP00000389224:S598N;ENSP00000404122:S598N;ENSP00000369402:S598N	ENSP00000369402:S598N	S	+	2	0	IFT74	27052724	0.886000	0.30341	0.955000	0.39395	0.679000	0.39708	0.755000	0.26405	1.580000	0.49851	0.650000	0.86243	AGC	-	NULL		0.383	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	protein_coding	OTTHUMT00000055476.2	G	NM_025103	-		27062724	1	no_errors	ENST00000380062	ensembl	human	known	74_37	missense	SNP	0.614	A	A	27062724	G	A	27062724	3	1	234	1	0	0	0	0	1	0	0	0	7565	971	34	2	1936	2	IFT74	9	27062724	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	5621767	27062724	114150707	61	18949											
PCSK5	5125	genome.wustl.edu	37	chr9	78710840	78710840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctctgtgtttgtttgggCatctggaaatggtggaagga	16	5	2	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr9:78710840C>T	ENST00000545128.1	+	8	1467	c.929C>T	c.(928-930)gCa>gTa	p.A310V	PCSK5_ENST00000376767.3_Missense_Mutation_p.A310V|PCSK5_ENST00000376752.4_Missense_Mutation_p.A310V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	310	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTGTTTGGGCATCTGGAAAT	0.493																																																	0								ENSG00000099139						166	148	154					9																	78710840		2203	4300	6503	PCSK5	SO:0001583	missense	0			-	HGNC		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.929C>T	9.37:g.78710840C>T	ENSP00000446280:p.Ala310Val	Somatic	0	48	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.00	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP							pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.A310V	ENST00000545128.1	37	c.929	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.360161	0.95877	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.90620	-2.7;-2.7;-2.7	5.69	5.69	0.88448	.	0.050288	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99415	4.555	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.926	D	0.98953	1.0795	10	0.66056	D	0.02	-17.6705	19.8169	0.96573	0.0:1.0:0.0:0.0	.	310;310	Q92824-2;B1AMG5	.;.	V	310;13;310;310;310	ENSP00000446280:A310V;ENSP00000365958:A310V;ENSP00000365943:A310V	ENSP00000365943:A310V	A	+	2	0	PCSK5	77900660	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	7.487000	0.81328	2.689000	0.91719	0.460000	0.39030	GCA	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.493	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	protein_coding		C		-		78710840	1	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	SNP	1.000	T	T	78710840	C	T	78710840	3	4	234	1	0	0	0	0	1	0	0	0	11605	710	25	2	959	2	PCSK5	9	78710840	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	51648116	78710840	62502591	62	18950											
ZNF169	169841	genome.wustl.edu	37	chr9	97062505	97062505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactatagactgggacttaGcaaaaagtcaagcctgttca	8	8	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr9:97062505G>T	ENST00000395395.2	+	5	755	c.665G>T	c.(664-666)aGc>aTc	p.S222I	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	222					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTGGGACTTAGCAAAAAGTCA	0.502																																																	0								ENSG00000175787						61	55	57					9																	97062505		2203	4300	6503	ZNF169	SO:0001583	missense	0			-	HGNC	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.665G>T	9.37:g.97062505G>T	ENSP00000378792:p.Ser222Ile	Somatic	0	71	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S222I	ENST00000395395.2	37	c.665	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735353	0.15574	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.07114	3.22	2.59	0.671	0.17929	.	.	.	.	.	T	0.04815	0.0130	L	0.28115	0.83	0.09310	N	1	B	0.15930	0.015	B	0.22152	0.038	T	0.46857	-0.9161	9	0.15499	T	0.54	.	2.1547	0.03809	0.3128:0.0:0.4358:0.2513	.	222	Q14929	ZN169_HUMAN	I	222;31	ENSP00000378792:S222I	ENSP00000340711:S31I	S	+	2	0	ZNF169	96102326	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-1.716000	0.01878	0.176000	0.19873	-0.362000	0.07510	AGC	-	NULL		0.502	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	protein_coding	OTTHUMT00000253714.1	G	NM_194320	-		97062505	1	no_errors	ENST00000395395	ensembl	human	known	74_37	missense	SNP	0.000	T	T	97062505	G	T	97062505	3	4	234	1	0	0	0	0	1	0	0	0	17749	971	34	3	679	3	ZNF169	9	97062505	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	18351665	97062505	44150926	63	18951											
ZFP37	7539	genome.wustl.edu	37	chr9	115806243	115806243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttttgcctttccttgTatcagataagctatggttga	8	7	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr9:115806243T>C	ENST00000374227.3	-	4	682	c.655A>G	c.(655-657)Aca>Gca	p.T219A	ZFP37_ENST00000553380.1_Missense_Mutation_p.T234A|ZFP37_ENST00000555206.1_Missense_Mutation_p.T220A	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	219					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTTTCCTTGTATCAGATAAG	0.343																																																	0								ENSG00000136866						240	235	237					9																	115806243		2203	4299	6502	ZFP37	SO:0001583	missense	0			-	HGNC	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.655A>G	9.37:g.115806243T>C	ENSP00000363344:p.Thr219Ala	Somatic	0	37	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T234A	ENST00000374227.3	37	c.700	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.489607	0.01018	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05319	3.53;3.46;3.53	4.28	3.15	0.36227	.	0.726173	0.11897	N	0.519050	T	0.05227	0.0139	L	0.31845	0.965	0.09310	N	1	B;B;B	0.28291	0.206;0.206;0.131	B;B;B	0.28305	0.088;0.088;0.04	T	0.42498	-0.9448	10	0.23891	T	0.37	-0.3295	5.9026	0.18976	0.0:0.1189:0.0:0.8811	.	220;234;219	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	A	219;220;234	ENSP00000363344:T219A;ENSP00000451310:T220A;ENSP00000452552:T234A	ENSP00000363344:T219A	T	-	1	0	ZFP37	114846064	0.006000	0.16342	0.262000	0.24481	0.036000	0.12997	1.306000	0.33505	0.995000	0.38917	0.533000	0.62120	ACA	-	NULL		0.343	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	protein_coding	OTTHUMT00000055439.1	T	NM_003408	-		115806243	-1	no_errors	ENST00000553380	ensembl	human	known	74_37	missense	SNP	0.150	C	C	115806243	T	C	115806243	3	2	234	1	0	0	0	0	1	0	0	0	17655	1638	57	5	1241	5	ZFP37	9	115806243	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	18743738	115806243	25407188	64	18952											
WDR5	11091	genome.wustl.edu	37	chr9	137020864	137020864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaatactgcatatttgCcaatttctctgttactggtg	8	7	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr9:137020864C>T	ENST00000358625.3	+	12	962	c.791C>T	c.(790-792)gCc>gTc	p.A264V	WDR5_ENST00000425041.1_Missense_Mutation_p.A264V	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	264					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		TGCATATTTGCCAATTTCTCT	0.493																																																	0								ENSG00000196363						190	175	180					9																	137020864		2203	4300	6503	WDR5	SO:0001583	missense	0			-	HGNC	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.791C>T	9.37:g.137020864C>T	ENSP00000351446:p.Ala264Val	Somatic	0	78	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP							pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A264V	ENST00000358625.3	37	c.791	CCDS6981.1	9	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748909	0.69533	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.58940	0.3;0.3	4.28	4.28	0.50868	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	0.35624	0.0938	N	0.11724	0.165	0.80722	D	1	P	0.52692	0.955	B	0.38327	0.271	T	0.23190	-1.0195	10	0.15499	T	0.54	.	16.0667	0.80887	0.0:1.0:0.0:0.0	.	264	P61964	WDR5_HUMAN	V	264	ENSP00000351446:A264V;ENSP00000401889:A264V	ENSP00000351446:A264V	A	+	2	0	WDR5	136010685	1.000000	0.71417	0.937000	0.37676	0.947000	0.59692	6.950000	0.75977	2.100000	0.63781	0.561000	0.74099	GCC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.493	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5	protein_coding	OTTHUMT00000254621.1	C	NM_052821	-		137020864	1	no_errors	ENST00000358625	ensembl	human	known	74_37	missense	SNP	0.999	T	T	137020864	C	T	137020864	3	4	234	1	0	0	0	0	1	0	0	0	17310	739	26	2	833	2	WDR5	9	137020864	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	21214621	137020864	4192567	65	18953											
SFMBT2	57713	genome.wustl.edu	37	chr10	7262457	7262457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggattcctggggttcacagCttcaagtttcatgttctttg	10	8	4	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr10:7262457C>A	ENST00000361972.4	-	11	1336	c.1246G>T	c.(1246-1248)Gct>Tct	p.A416S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A416S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	416					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGTTCACAGCTTCAAGTTTC	0.532																																																	0								ENSG00000198879						210	187	195					10																	7262457		2203	4300	6503	SFMBT2	SO:0001583	missense	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1246G>T	10.37:g.7262457C>A	ENSP00000355109:p.Ala416Ser	Somatic	0	94	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	86	13.13	A7MD09|Q9HCF5	Missense_Mutation	SNP							pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.A416S	ENST00000361972.4	37	c.1246	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822159	0.90873	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.45276	0.9;0.9	5.4	5.4	0.78164	.	0.047328	0.85682	D	0.000000	T	0.63271	0.2497	M	0.88775	2.98	0.80722	D	1	P	0.45283	0.855	P	0.49502	0.613	T	0.71731	-0.4504	10	0.87932	D	0	.	18.7763	0.91912	0.0:1.0:0.0:0.0	.	416	Q5VUG0	SMBT2_HUMAN	S	416	ENSP00000355109:A416S;ENSP00000380353:A416S	ENSP00000355109:A416S	A	-	1	0	SFMBT2	7302463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.037000	0.70956	2.530000	0.85305	0.563000	0.77884	GCT	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.532	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	C	NM_001029880	-		7262457	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7262457	C	A	7262457	3	1	234	1	0	0	0	0	1	0	0	0	14166	797	28	3	1482	3	SFMBT2	10	7262457	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09		7262457	128272290	66	18954											
NRG3	10718	genome.wustl.edu	37	chr10	84745311	84745311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatcagaacgagaggcgCaatttgtcttaagaaatgaa	9	7	2	4	rs201882406		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr10:84745311C>A	ENST00000404547.1	+	10	2113	c.2113C>A	c.(2113-2115)Caa>Aaa	p.Q705K	NRG3_ENST00000372142.2_Missense_Mutation_p.Q484K|NRG3_ENST00000556918.1_Missense_Mutation_p.Q511K|NRG3_ENST00000537893.1_Missense_Mutation_p.Q331K|NRG3_ENST00000372141.2_Missense_Mutation_p.Q681K|NRG3_ENST00000545131.1_Missense_Mutation_p.Q331K|NRG3_ENST00000404576.2_Missense_Mutation_p.Q485K			P56975	NRG3_HUMAN	neuregulin 3	705					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACGAGAGGCGCAATTTGTCTT	0.463																																																	0								ENSG00000185737						76	73	74					10																	84745311		2203	4300	6503	NRG3	SO:0001583	missense	0			-	HGNC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2113C>A	10.37:g.84745311C>A	ENSP00000384796:p.Gln705Lys	Somatic	0	63	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP							pfscan_EG-like_dom	p.Q705K	ENST00000404547.1	37	c.2113	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358138	0.24598	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.52295	1.3;1.29;1.31;0.67;1.24;0.78;0.78	5.15	5.15	0.70609	.	0.088628	0.48767	D	0.000161	T	0.34193	0.0889	N	0.21448	0.665	0.38282	D	0.94245	B;B;B;B	0.20887	0.049;0.049;0.02;0.049	B;B;B;B	0.22152	0.008;0.038;0.026;0.008	T	0.24225	-1.0166	10	0.44086	T	0.13	-33.2025	11.5654	0.50802	0.1784:0.8216:0.0:0.0	.	680;705;484;681	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	681;705;680;484;485;511;331;331	ENSP00000361214:Q681K;ENSP00000384796:Q705K;ENSP00000361215:Q484K;ENSP00000385804:Q485K;ENSP00000451376:Q511K;ENSP00000441201:Q331K;ENSP00000440377:Q331K	ENSP00000361214:Q681K	Q	+	1	0	NRG3	84735291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.612000	0.46343	2.567000	0.86603	0.591000	0.81541	CAA	-	NULL		0.463	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	protein_coding	OTTHUMT00000412262.1	C	XM_166086	-		84745311	1	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	SNP	1.000	A	A	84745311	C	A	84745311	3	1	234	1	0	0	0	0	1	0	0	0	10651	711	25	3	2319	3	NRG3	10	84745311	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	77482854	84745311	50789436	67	18955											
KIF11	3832	genome.wustl.edu	37	chr10	94390005	94390005	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgcaaaataaaacacaaGaacttgaaaccactcaaaaa	3	10	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr10:94390005G>T	ENST00000260731.3	+	12	1468	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	460					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAAAACACAAGAACTTGAAAC	0.299																																					Colon(47;212 1003 2764 4062 8431)												0								ENSG00000138160						60	60	60					10																	94390005		2203	4300	6503	KIF11	SO:0001587	stop_gained	0			-	HGNC	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1378G>T	10.37:g.94390005G>T	ENSP00000260731:p.Glu460*	Somatic	0	50	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A0AV49|B2RMV3|Q15716|Q5VWX0	Nonsense_Mutation	SNP							pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E460*	ENST00000260731.3	37	c.1378	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	g	38	6.977382	0.97975	.	.	ENSG00000138160	ENST00000260731	.	.	.	5.82	5.82	0.92795	.	0.170353	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.6917	0.96005	0.0:0.0:1.0:0.0	.	.	.	.	X	460	.	ENSP00000260731:E460X	E	+	1	0	KIF11	94379985	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.318000	0.51975	2.751000	0.94390	0.650000	0.86243	GAA	-	NULL		0.299	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	protein_coding	OTTHUMT00000049401.1	G	NM_004523	-		94390005	1	no_errors	ENST00000260731	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	94390005	G	T	94390005	4	4	234	1	0	0	0	0	0	1	0	0	8274	943	33	3	1424	3	KIF11	10	94390005	Nonsense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	9644694	94390005	41144742	68	18956											
PPRC1	23082	genome.wustl.edu	37	chr10	103901296	103901296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcctccattgggagagctGttccccaacctaaaatggag	10	12	0	1	rs201069737		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr10:103901296G>T	ENST00000278070.2	+	5	3070	c.3031G>T	c.(3031-3033)Gtt>Ttt	p.V1011F	PPRC1_ENST00000413464.2_Missense_Mutation_p.V1011F|PPRC1_ENST00000370012.1_5'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1011	Pro-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGGAGAGCTGTTCCCCAACC	0.582																																																	0								ENSG00000148840						48	50	49					10																	103901296		2203	4300	6503	PPRC1	SO:0001583	missense	0			-	HGNC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3031G>T	10.37:g.103901296G>T	ENSP00000278070:p.Val1011Phe	Somatic	0	37	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	16	48.39	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V1011F	ENST00000278070.2	37	c.3031	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603924	0.28534	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.26810	1.74;1.71	5.79	1.62	0.23740	.	0.839629	0.10485	N	0.669114	T	0.20455	0.0492	L	0.29908	0.895	0.09310	N	1	P;P;P	0.42409	0.779;0.773;0.664	B;B;B	0.43155	0.233;0.41;0.233	T	0.14200	-1.0481	10	0.62326	D	0.03	.	6.6553	0.22984	0.0693:0.2326:0.5787:0.1194	.	1011;891;1011	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	F	1011	ENSP00000278070:V1011F;ENSP00000399743:V1011F	ENSP00000278070:V1011F	V	+	1	0	PPRC1	103891286	0.001000	0.12720	0.984000	0.44739	0.335000	0.28730	0.391000	0.20784	0.783000	0.33636	0.462000	0.41574	GTT	-	NULL		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	protein_coding	OTTHUMT00000050021.1	G	NM_015062	-		103901296	1	no_errors	ENST00000278070	ensembl	human	known	74_37	missense	SNP	0.000	T	T	103901296	G	T	103901296	3	4	234	1	0	0	0	0	1	0	0	0	12415	1377	48	3	3049	3	PPRC1	10	103901296	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	9511291	103901296	31633451	69	18957											
TACC2	10579	genome.wustl.edu	37	chr10	123970428	123970428	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccagatgaagagagccttgTccccagtggggagaatctag	14	9	1	4			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr10:123970428T>A	ENST00000369005.1	+	9	6828	c.6488T>A	c.(6487-6489)gTc>gAc	p.V2163D	TACC2_ENST00000515603.1_Missense_Mutation_p.V2118D|TACC2_ENST00000260733.3_Missense_Mutation_p.V241D|TACC2_ENST00000513429.1_Missense_Mutation_p.V309D|TACC2_ENST00000369004.3_Missense_Mutation_p.V241D|TACC2_ENST00000515273.1_Missense_Mutation_p.V2167D|TACC2_ENST00000334433.3_Missense_Mutation_p.V2163D|TACC2_ENST00000360561.3_Missense_Mutation_p.V241D|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.V309D|TACC2_ENST00000453444.2_Missense_Mutation_p.V2167D|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Missense_Mutation_p.V241D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2163					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)				GAGAGCCTTGTCCCCAGTGGG	0.562																																																	0								ENSG00000138162						97	110	105					10																	123970428		2203	4300	6503	TACC2	SO:0001583	missense	0			-	HGNC	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.6488T>A	10.37:g.123970428T>A	ENSP00000358001:p.Val2163Asp	Somatic	0	111	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP							pfam_TACC	p.V2163D	ENST00000369005.1	37	c.6488	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	T	2.612	-0.290609	0.05568	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639	T;T;T;T;T;T;T;T;T;T;T;T;T	0.22539	4.04;3.62;4.06;4.05;4.04;3.62;4.06;3.52;3.42;3.42;3.5;3.11;1.95	5.54	-3.65	0.04502	.	0.545295	0.13873	N	0.356862	T	0.06962	0.0177	N	0.13043	0.29	0.19775	N	0.999952	B;B;B;B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.001;0.002;0.0;0.001;0.001;0.002;0.002	T	0.35351	-0.9792	10	0.10902	T	0.67	-0.3564	1.1047	0.01691	0.4415:0.1748:0.2252:0.1584	.	258;2167;241;2118;2167;241;241;309;2163	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	D	2163;309;2167;2118;2163;309;2167;2153;241;241;241;241;258;4	ENSP00000358001:V2163D;ENSP00000425062:V309D;ENSP00000424467:V2167D;ENSP00000427618:V2118D;ENSP00000334280:V2163D;ENSP00000350701:V309D;ENSP00000395048:V2167D;ENSP00000353763:V241D;ENSP00000357995:V241D;ENSP00000422815:V241D;ENSP00000260733:V241D;ENSP00000420967:V258D;ENSP00000426303:V4D	ENSP00000260733:V241D	V	+	2	0	TACC2	123960418	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.932000	0.03963	-0.482000	0.06782	0.533000	0.62120	GTC	-	NULL		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	T		-		123970428	1	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	SNP	0.000	A	A	123970428	T	A	123970428	3	1	234	1	0	0	0	0	1	0	0	0	15509	1667	58	5	6590	5	TACC2	10	123970428	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	20069132	123970428	11564319	70	18958											
ZNF195	7748	genome.wustl.edu	37	chr11	3392908	3392908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagggagaattctatgGccacatccctgaacgtcaac	8	14	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:3392908G>A	ENST00000399602.4	-	2	155	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF195_ENST00000354599.6_Missense_Mutation_p.A10V|ZNF195_ENST00000429541.2_Missense_Mutation_p.A14V|ZNF195_ENST00000005082.9_Missense_Mutation_p.A10V|ZNF195_ENST00000343338.7_Missense_Mutation_p.A14V|ZNF195_ENST00000526601.1_Missense_Mutation_p.A14V|ZNF195_ENST00000527386.1_5'UTR|AC123788.1_ENST00000581561.1_RNA|ZNF195_ENST00000528796.1_Missense_Mutation_p.A10V|ZNF195_ENST00000438262.2_Missense_Mutation_p.A14V	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	10	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)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAATTCTATGGCCACATCCCT	0.448																																																	0								ENSG00000005801						73	78	76					11																	3392908		2195	4298	6493	ZNF195	SO:0001583	missense	0			-	HGNC		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.29C>T	11.37:g.3392908G>A	ENSP00000382511:p.Ala10Val	Somatic	0	66	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A10V	ENST00000399602.4	37	c.29	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	g	17.81	3.481831	0.63849	.	.	ENSG00000005801	ENST00000528796;ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000438262;ENST00000528410;ENST00000533036;ENST00000529678;ENST00000427810;ENST00000534569;ENST00000525502;ENST00000532539	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98	1.19	1.19	0.21007	Krueppel-associated box (4);	.	.	.	.	T	0.13415	0.0325	M	0.79926	2.475	0.09310	N	1	P;P;D;P;D	0.60575	0.877;0.512;0.988;0.899;0.988	D;B;D;P;D	0.65010	0.916;0.11;0.931;0.787;0.931	T	0.06807	-1.0806	9	0.56958	D	0.05	.	5.6377	0.17546	0.0:0.0:1.0:0.0	.	14;10;14;10;10	O14628-6;O14628-5;O14628-7;O14628;O14628-4	.;.;.;ZN195_HUMAN;.	V	10;10;10;14;14;10;14;14;14;10;14;25;14;10;14	ENSP00000432720:A10V;ENSP00000346613:A10V;ENSP00000382511:A10V;ENSP00000344483:A14V;ENSP00000387998:A14V;ENSP00000005082:A10V;ENSP00000435828:A14V;ENSP00000414353:A14V;ENSP00000431937:A14V;ENSP00000433911:A10V;ENSP00000434715:A14V;ENSP00000390663:A25V;ENSP00000437265:A14V;ENSP00000434006:A10V;ENSP00000435153:A14V	ENSP00000005082:A10V	A	-	2	0	ZNF195	3349484	1.000000	0.71417	0.014000	0.15608	0.899000	0.52679	2.642000	0.46596	0.590000	0.29694	0.313000	0.20887	GCC	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.448	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	protein_coding	OTTHUMT00000032321.2	G		-		3392908	-1	no_errors	ENST00000399602	ensembl	human	known	74_37	missense	SNP	0.133	A	A	3392908	G	A	3392908	3	1	234	1	0	0	0	0	1	0	0	0	17765	1203	42	2	1880	2	ZNF195	11	3392908	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		3392908	131613608	71	18959											
SYT9	143425	genome.wustl.edu	37	chr11	7334914	7334914	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagatccttatgtcaagatCtatttgcttcctgatcggaa	7	9	3	3			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:7334914C>A	ENST00000318881.6	+	3	1023	c.786C>A	c.(784-786)atC>atA	p.I262I	SYT9_ENST00000396716.2_Silent_p.I230I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	262	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.I262I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGTCAAGATCTATTTGCTTC	0.413																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000170743						136	135	136					11																	7334914		2201	4296	6497	SYT9	SO:0001819	synonymous_variant	0			-	HGNC	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.786C>A	11.37:g.7334914C>A		Somatic	0	48	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95		Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.I262	ENST00000318881.6	37	c.786	CCDS7778.1	11																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom		0.413	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	protein_coding	OTTHUMT00000384483.1	C	NM_175733	-		7334914	1	no_errors	ENST00000318881	ensembl	human	known	74_37	silent	SNP	1.000	A	A	7334914	C	A	7334914	2	1	234	1	0	0	0	0	0	0	0	1	15488	903	32	3		3	SYT9	11	7334914	Silent	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	3942006	7334914	127671602	72	18960											
CREB3L1	90993	genome.wustl.edu	37	chr11	46321563	46321563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcagcttctttgaTgaccctgtgctggatgagaa	11	9	2	3			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:46321563T>A	ENST00000529193.1	+	2	631	c.180T>A	c.(178-180)gaT>gaA	p.D60E	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D60E			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	60	Required for transcriptional activation.				regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GCTTCTTTGATGACCCTGTGC	0.562			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0								ENSG00000157613						109	106	107					11																	46321563		2070	4222	6292	CREB3L1	SO:0001583	missense	0			-	HGNC		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.180T>A	11.37:g.46321563T>A	ENSP00000434939:p.Asp60Glu	Somatic	0	55	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q8N2D5|Q96CP0	Missense_Mutation	SNP							pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.D60E	ENST00000529193.1	37	c.180	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403642	0.83230	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000534787	T;T;T	0.47177	2.59;2.59;0.85	5.56	4.42	0.53409	.	0.138818	0.46442	D	0.000295	T	0.57213	0.2038	L	0.42245	1.32	0.39210	D	0.963302	D	0.64830	0.994	D	0.72625	0.978	T	0.55205	-0.8177	10	0.30854	T	0.27	-23.4852	11.503	0.50448	0.0:0.0705:0.0:0.9295	.	60	Q96BA8	CR3L1_HUMAN	E	60;60;60;14	ENSP00000434939:D60E;ENSP00000288400:D60E;ENSP00000431677:D14E	ENSP00000288400:D60E	D	+	3	2	CREB3L1	46278139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.763000	0.38461	0.930000	0.37217	0.533000	0.62120	GAT	-	NULL		0.562	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	protein_coding	OTTHUMT00000389702.1	T	NM_052854	-		46321563	1	no_errors	ENST00000288400	ensembl	human	known	74_37	missense	SNP	1.000	A	A	46321563	T	A	46321563	3	1	234	1	0	0	0	0	1	0	0	0	3858	1461	51	5	186	5	CREB3L1	11	46321563	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	38986649	46321563	88684953	73	18961											
GLYAT	10249	genome.wustl.edu	37	chr11	58478144	58478144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttggctgtttcagctGccatatagagaatgcgttgt	11	8	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:58478144G>A	ENST00000344743.3	-	5	548	c.407C>T	c.(406-408)gCa>gTa	p.A136V	GLYAT_ENST00000529732.1_Missense_Mutation_p.A136V|GLYAT_ENST00000278400.3_Missense_Mutation_p.A136V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	136					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGTTTCAGCTGCCATATAGAG	0.428																																																	0								ENSG00000149124						160	148	152					11																	58478144		2201	4295	6496	GLYAT	SO:0001583	missense	0			-	HGNC	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.407C>T	11.37:g.58478144G>A	ENSP00000340200:p.Ala136Val	Somatic	0	64	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	O14833|Q96QK7	Missense_Mutation	SNP							pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.A136V	ENST00000344743.3	37	c.407	CCDS7970.1	11	.	.	.	.	.	.	.	.	.	.	G	9.162	1.018888	0.19355	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.14893	2.53;2.53;2.47	5.77	-6.65	0.01795	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	4.412020	0.00166	N	0.000005	T	0.04363	0.0120	N	0.01668	-0.77	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.27905	-1.0060	10	0.14252	T	0.57	11.7786	1.4405	0.02353	0.4331:0.1024:0.2123:0.2522	.	136;136	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	V	136	ENSP00000340200:A136V;ENSP00000431688:A136V;ENSP00000278400:A136V	ENSP00000278400:A136V	A	-	2	0	GLYAT	58234720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.638000	0.02013	-0.905000	0.03871	0.655000	0.94253	GCA	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.428	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	protein_coding	OTTHUMT00000394593.1	G		-		58478144	-1	no_errors	ENST00000344743	ensembl	human	known	74_37	missense	SNP	0.000	A	A	58478144	G	A	58478144	3	1	234	1	0	0	0	0	1	0	0	0	6481	1319	46	2	495	2	GLYAT	11	58478144	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	12156581	58478144	76528372	74	18962											
GPR83	10888	genome.wustl.edu	37	chr11	94134288	94134288	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggtgtagttgttccaagaGaagaagtgcgaggcattggg	16	4	0	2	rs374506287		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:94134288G>T	ENST00000243673.2	-	1	297	c.126C>A	c.(124-126)ttC>ttA	p.F42L	GPR83_ENST00000539203.2_Missense_Mutation_p.F42L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	42					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTTCCAAGAGAAGAAGTGCG	0.657																																																	0								ENSG00000123901						60	63	62					11																	94134288		2201	4298	6499	GPR83	SO:0001583	missense	0			-	HGNC	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.126C>A	11.37:g.94134288G>T	ENSP00000243673:p.Phe42Leu	Somatic	0	35	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.F42L	ENST00000243673.2	37	c.126	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002403	0.54254	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61040	0.2;0.14	4.43	3.5	0.40072	.	0.065126	0.64402	D	0.000009	T	0.47857	0.1468	L	0.56769	1.78	0.40131	D	0.97671	B	0.26081	0.141	B	0.27887	0.084	T	0.35674	-0.9779	10	0.10636	T	0.68	.	9.4904	0.38955	0.1722:0.0:0.8278:0.0	.	42	Q9NYM4	GPR83_HUMAN	L	42	ENSP00000243673:F42L;ENSP00000441550:F42L	ENSP00000243673:F42L	F	-	3	2	GPR83	93773936	0.914000	0.31030	0.922000	0.36590	0.873000	0.50193	-0.086000	0.11233	2.022000	0.59522	0.407000	0.27541	TTC	-	NULL		0.657	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	protein_coding	OTTHUMT00000396232.1	G	NM_016540	-		94134288	-1	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	SNP	0.968	T	T	94134288	G	T	94134288	3	4	234	1	0	0	0	0	1	0	0	0	6715	933	33	3	1161	3	GPR83	11	94134288	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	35656144	94134288	40872228	75	18963											
TMPRSS5	80975	genome.wustl.edu	37	chr11	113565336	113565336	+	Frame_Shift_Del	DEL	G	G	-													agactgcccaccaactatccGggaagccaggggcctcgctc							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:113565336delG	ENST00000299882.5	-	8	797	c.649delC	c.(649-651)cggfs	p.R217fs	TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.R173fs|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.R208fs|TMPRSS5_ENST00000544634.1_Intron	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	217		Cleavage. {ECO:0000255}.			proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CCAACTATCCGGGAAGCCAGG	0.637																																																	0								ENSG00000166682						11	16	14					11																	113565336		1933	4037	5970	TMPRSS5	SO:0001589	frameshift_variant	0				HGNC	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.649delC	11.37:g.113565336delG	ENSP00000299882:p.Arg217fs	Somatic	0	60	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53		Frame_Shift_Del	DEL							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R217fs	ENST00000299882.5	37	c.649	CCDS44735.1	11																																																																																			-	superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1		0.637	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	protein_coding	OTTHUMT00000398652.1	G	NM_030770			113565336	-1	no_errors	ENST00000299882	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-	-	113565336	G	-	113565336	7	5	234	1	0	1	0	1	0	0	0	0	16257	1115	39	0	748	0	TMPRSS5	11	113565336	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09	19431048	113565336	21441180	76	18964											
PKNOX2	63876	genome.wustl.edu	37	chr11	125280690	125280690	+	Frame_Shift_Del	DEL	A	A	-													ctcaggtggagccttataccAaccggttaccatggtaacct							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr11:125280690delA	ENST00000298282.9	+	9	1005	c.734delA	c.(733-735)caafs	p.Q245fs	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Frame_Shift_Del_p.Q181fs	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	245					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GCCTTATACCAACCGGTTACC	0.572																																																	0								ENSG00000165495						93	90	91					11																	125280690		1946	4141	6087	PKNOX2	SO:0001589	frameshift_variant	0				HGNC	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.734delA	11.37:g.125280690delA	ENSP00000298282:p.Gln245fs	Somatic	0	57	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Frame_Shift_Del	DEL							pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q245fs	ENST00000298282.9	37	c.734	CCDS41730.1	11																																																																																			-	NULL		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	protein_coding	OTTHUMT00000386866.3	A				125280690	1	no_errors	ENST00000298282	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	125280690	A	-	125280690	7	5	234	1	0	1	0	1	0	0	0	0	11985	130	5	0	756	0	PKNOX2	11	125280690	Frame_Shift_Del	DEL	A	TCGA-X6-A8C2-01A-11D-A36J-09	11715354	125280690	9725826	77	18965											
KCNA6	3742	genome.wustl.edu	37	chr12	4919850	4919850	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtgtgagtcgagtcTccccagtttccagggggagt	16	8	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:4919850T>A	ENST00000280684.3	+	1	1509	c.643T>A	c.(643-645)Tcc>Acc	p.S215T	KCNA6_ENST00000433855.1_Missense_Mutation_p.S215T|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	215					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GAGTCGAGTCTCCCCAGTTTC	0.537										HNSCC(72;0.22)																																							0								ENSG00000151079						75	71	72					12																	4919850		2203	4300	6503	KCNA6	SO:0001583	missense	0			-	HGNC	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.643T>A	12.37:g.4919850T>A	ENSP00000280684:p.Ser215Thr	Somatic	0	39	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50		Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S215T	ENST00000280684.3	37	c.643	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.840936	0.00573	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97161	-4.27;-4.27	5.43	3.09	0.35607	.	.	.	.	.	D	0.92463	0.7607	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.81300	-0.0995	9	0.10377	T	0.69	.	7.0734	0.25191	0.0:0.0861:0.3444:0.5695	.	215	P17658	KCNA6_HUMAN	T	215	ENSP00000408321:S215T;ENSP00000280684:S215T	ENSP00000280684:S215T	S	+	1	0	KCNA6	4790111	0.067000	0.21026	0.022000	0.16811	0.051000	0.14879	1.567000	0.36407	0.869000	0.35703	0.533000	0.62120	TCC	-	NULL		0.537	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	protein_coding	OTTHUMT00000398909.1	T	NM_002235	-		4919850	1	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	SNP	0.000	A	A	4919850	T	A	4919850	3	1	234	1	0	0	0	0	1	0	0	0	8009	1551	54	5	645	5	KCNA6	12	4919850	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09		4919850	128932045	78	18966											
KCNA6	3742	genome.wustl.edu	37	chr12	4919890	4919890	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggaagaggaggatgAagacgattcctacacatttc	12	7	1	3			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:4919890A>T	ENST00000280684.3	+	1	1549	c.683A>T	c.(682-684)gAa>gTa	p.E228V	KCNA6_ENST00000433855.1_Missense_Mutation_p.E228V|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	228					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GAGGAGGATGAAGACGATTCC	0.552										HNSCC(72;0.22)																																							0								ENSG00000151079						88	88	88					12																	4919890		2203	4300	6503	KCNA6	SO:0001583	missense	0			-	HGNC	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.683A>T	12.37:g.4919890A>T	ENSP00000280684:p.Glu228Val	Somatic	0	67	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75		Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E228V	ENST00000280684.3	37	c.683	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	A	0.244	-1.011687	0.02095	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97209	-4.29;-4.29	5.64	5.64	0.86602	.	2.916220	0.01570	N	0.020525	D	0.92433	0.7598	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.82977	-0.0189	10	0.26408	T	0.33	.	7.0966	0.25313	0.7752:0.1486:0.0763:0.0	.	228	P17658	KCNA6_HUMAN	V	228	ENSP00000408321:E228V;ENSP00000280684:E228V	ENSP00000280684:E228V	E	+	2	0	KCNA6	4790151	0.054000	0.20591	0.109000	0.21407	0.057000	0.15508	0.804000	0.27098	2.152000	0.67230	0.533000	0.62120	GAA	-	prints_K_chnl_volt-dep_Kv1.6		0.552	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	protein_coding	OTTHUMT00000398909.1	A	NM_002235	-		4919890	1	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	SNP	0.070	T	T	4919890	A	T	4919890	3	4	234	1	0	0	0	0	1	0	0	0	8009	246	9	5	685	5	KCNA6	12	4919890	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	40	4919890	128932005	79	18967											
ACSM4	341392	genome.wustl.edu	37	chr12	7480905	7480905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttgttcaagaactccCaaagacaatcactgggaaaa	8	8	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:7480905C>A	ENST00000399422.4	+	13	1727	c.1679C>A	c.(1678-1680)cCa>cAa	p.P560Q		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	560					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CAAGAACTCCCAAAGACAATC	0.398																																																	0								ENSG00000215009						70	63	65					12																	7480905		1840	4095	5935	ACSM4	SO:0001583	missense	0			-	HGNC		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1679C>A	12.37:g.7480905C>A	ENSP00000382349:p.Pro560Gln	Somatic	0	84	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	27.12	A8MTI6	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.P560Q	ENST00000399422.4	37	c.1679	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367989	0.61513	.	.	ENSG00000215009	ENST00000399422	T	0.72725	-0.68	2.64	2.64	0.31445	.	0.000000	0.38959	U	0.001514	D	0.87819	0.6273	H	0.97103	3.94	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	D	0.90529	0.4494	10	0.87932	D	0	0.1466	11.4235	0.49996	0.0:1.0:0.0:0.0	.	560	P0C7M7	ACSM4_HUMAN	Q	560	ENSP00000382349:P560Q	ENSP00000382349:P560Q	P	+	2	0	ACSM4	7372172	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.029000	0.70895	1.789000	0.52484	0.591000	0.81541	CCA	-	NULL		0.398	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	protein_coding	OTTHUMT00000337866.2	C	NM_001080454	-		7480905	1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	SNP	1.000	A	A	7480905	C	A	7480905	3	1	234	1	0	0	0	0	1	0	0	0	186	594	21	3	1729	3	ACSM4	12	7480905	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	2561015	7480905	126370990	80	18968											
ESPL1	9700	genome.wustl.edu	37	chr12	53683300	53683300	+	Frame_Shift_Del	DEL	T	T	-													gcatccagcgcctcttttccTtcagggctttggaatctggc							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:53683300delT	ENST00000257934.4	+	22	5126	c.5035delT	c.(5035-5037)ttcfs	p.F1679fs	ESPL1_ENST00000552462.1_Frame_Shift_Del_p.F1679fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1679					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCTTTTCCTTCAGGGCTTT	0.607																																					Colon(53;1069 1201 2587 5382)												0								ENSG00000135476						48	52	50					12																	53683300		2203	4300	6503	ESPL1	SO:0001589	frameshift_variant	0				HGNC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5035delT	12.37:g.53683300delT	ENSP00000257934:p.Phe1679fs	Somatic	0	68	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09		Frame_Shift_Del	DEL							pfam_Peptidase_C50,superfamily_DsrEFH-like	p.F1679fs	ENST00000257934.4	37	c.5035	CCDS8852.1	12																																																																																			-	NULL		0.607	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	T	NM_012291			53683300	1	no_errors	ENST00000257934	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	53683300	T	-	53683300	7	5	234	1	0	1	0	1	0	0	0	0	5255	1609	56	0	5117	0	ESPL1	12	53683300	Frame_Shift_Del	DEL	T	TCGA-X6-A8C2-01A-11D-A36J-09	46202395	53683300	80168595	81	18969											
PPFIA2	8499	genome.wustl.edu	37	chr12	81777917	81777917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaaagggctgctaaaCgttctttcatctgggccatt	12	8	3	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:81777917C>A	ENST00000549396.1	-	9	1029	c.869G>T	c.(868-870)cGt>cTt	p.R290L	PPFIA2_ENST00000550359.2_Missense_Mutation_p.R137L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R272L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R272L|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R290L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R216L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R191L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R290L|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R290L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	290	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGCTGCTAAACGTTCTTTCAT	0.403																																																	0								ENSG00000139220						125	121	122					12																	81777917		1880	4110	5990	PPFIA2	SO:0001583	missense	0			-	HGNC	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.869G>T	12.37:g.81777917C>A	ENSP00000450337:p.Arg290Leu	Somatic	0	51	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R290L	ENST00000549396.1	37	c.869	CCDS55857.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.531909|5.531909	0.96446|0.96446	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.79352|.	1.17;1.17;1.17;-1.26;1.17;1.17;1.17|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77678|0.77678	0.4166|0.4166	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.987|.	D;D|.	0.79108|.	0.992;0.953|.	T|T	0.75852|0.75852	-0.3171|-0.3171	10|5	0.62326|.	D|.	0.03|.	-11.9479|-11.9479	19.9576|19.9576	0.97228|0.97228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	190;290|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	L|F	290;272;216;301;272;290;191;290|108	ENSP00000450337:R290L;ENSP00000450298:R272L;ENSP00000385093:R216L;ENSP00000327416:R272L;ENSP00000449338:R290L;ENSP00000388373:R191L;ENSP00000447868:R290L|.	ENSP00000327416:R272L|.	R|V	-|-	2|1	0|0	PPFIA2|PPFIA2	80302048|80302048	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.720000|2.720000	0.93068|0.93068	0.557000|0.557000	0.71058|0.71058	CGT|GTT	-	NULL		0.403	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	protein_coding	OTTHUMT00000408030.1	C		-		81777917	-1	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	SNP	1.000	A	A	81777917	C	A	81777917	3	1	234	1	0	0	0	0	1	0	0	0	12312	536	19	3	3000	3	PPFIA2	12	81777917	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	28094617	81777917	52073978	82	18970											
MYO1H	283446	genome.wustl.edu	37	chr12	109845713	109845713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaattcctccttagttAacaaggttggtcaacgcatt	6	9	2	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:109845713A>G	ENST00000431443.2	+	9	1102	c.1102A>G	c.(1102-1104)Aac>Gac	p.N368D	MYO1H_ENST00000310903.5_Missense_Mutation_p.N368D	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	368	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTCCTTAGTTAACAAGGTTGG	0.418																																																	0								ENSG00000174527						170	162	165					12																	109845713		1980	4140	6120	MYO1H	SO:0001583	missense	0			-	HGNC		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1102A>G	12.37:g.109845713A>G	ENSP00000444076:p.Asn368Asp	Somatic	0	119	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	49	31.94	F5H3C6	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.N368D	ENST00000431443.2	37	c.1102		12	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887033	0.52014	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87103	-2.21;-2.21	5.06	5.06	0.68205	.	.	.	.	.	D	0.91209	0.7230	L	0.53561	1.675	0.44619	D	0.99759	D	0.89917	1.0	D	0.91635	0.999	D	0.90656	0.4586	9	0.40728	T	0.16	.	14.3179	0.66465	1.0:0.0:0.0:0.0	.	368	F5H3C6	.	D	368	ENSP00000439182:N368D;ENSP00000444076:N368D	ENSP00000439182:N368D	N	+	1	0	MYO1H	108330096	1.000000	0.71417	0.988000	0.46212	0.118000	0.20060	7.287000	0.78681	2.051000	0.60960	0.397000	0.26171	AAC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.418	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	protein_coding		A	NM_173597	-		109845713	1	no_errors	ENST00000431443	ensembl	human	known	74_37	missense	SNP	1.000	G	G	109845713	A	G	109845713	3	3	234	1	0	0	0	0	1	0	0	0	10077	362	13	5	1136	5	MYO1H	12	109845713	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	28067796	109845713	24006182	83	18971											
CABP1	9478	genome.wustl.edu	37	chr12	121098629	121098629	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggtgtaaaggaactgcgaGatgctttccgagaggtaacg	14	6	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr12:121098629G>T	ENST00000316803.3	+	4	1059	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	CABP1_ENST00000453000.1_Missense_Mutation_p.D245Y|CABP1_ENST00000351200.2_Missense_Mutation_p.D106Y|CABP1_ENST00000288616.3_Missense_Mutation_p.D166Y	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	309	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAACTGCGAGATGCTTTCCG	0.498																																																	0								ENSG00000157782						147	142	144					12																	121098629		2203	4300	6503	CABP1	SO:0001583	missense	0			-	HGNC	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.925G>T	12.37:g.121098629G>T	ENSP00000317310:p.Asp309Tyr	Somatic	0	42	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D309Y	ENST00000316803.3	37	c.925	CCDS31913.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172014	0.78452	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.25	5.25	0.73442	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87489	0.6190	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.999	D;D;D;D	0.83275	0.996;0.915;0.995;0.978	D	0.90055	0.4152	10	0.87932	D	0	-21.7273	18.4685	0.90765	0.0:0.0:1.0:0.0	.	245;106;166;309	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	Y	309;166;106;245	ENSP00000317310:D309Y;ENSP00000288616:D166Y;ENSP00000288615:D106Y;ENSP00000398959:D245Y	ENSP00000288616:D166Y	D	+	1	0	CABP1	119583012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.957000	0.87870	2.450000	0.82876	0.650000	0.86243	GAT	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom		0.498	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	protein_coding	OTTHUMT00000345822.1	G	NM_001033677	-		121098629	1	no_errors	ENST00000316803	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121098629	G	T	121098629	3	4	234	1	0	0	0	0	1	0	0	0	2533	942	33	3	1172	3	CABP1	12	121098629	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	11252916	121098629	12753266	84	18972											
SACS	26278	genome.wustl.edu	37	chr13	23907175	23907175	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtttctttggaccagttttCtgtattagccctcacactga	7	10	3	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr13:23907175C>G	ENST00000382292.3	-	9	11113	c.10840G>C	c.(10840-10842)Gaa>Caa	p.E3614Q	SACS_ENST00000382298.3_Missense_Mutation_p.E3614Q|SACS_ENST00000402364.1_Missense_Mutation_p.E2864Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3614					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)		GACCAGTTTTCTGTATTAGCC	0.348																																																	0								ENSG00000151835						62	65	64					13																	23907175		2202	4299	6501	SACS	SO:0001583	missense	0			-	HGNC	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.10840G>C	13.37:g.23907175C>G	ENSP00000371729:p.Glu3614Gln	Somatic	0	80	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP							pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.E3614Q	ENST00000382292.3	37	c.10840	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581728	0.65992	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.91341	0.7269	L	0.29908	0.895	0.49483	D	0.999796	D	0.76494	0.999	D	0.80764	0.994	D	0.89151	0.3523	10	0.29301	T	0.29	.	20.2946	0.98546	0.0:1.0:0.0:0.0	.	3614	Q9NZJ4	SACS_HUMAN	Q	3614;2864;3614	ENSP00000371729:E3614Q;ENSP00000385844:E2864Q;ENSP00000371735:E3614Q	ENSP00000371729:E3614Q	E	-	1	0	SACS	22805175	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.818000	0.86416	2.804000	0.96469	0.462000	0.41574	GAA	-	NULL		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	C	NM_014363	-		23907175	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	SNP	1.000	G	G	23907175	C	G	23907175	3	3	234	1	0	0	0	0	1	0	0	0	13812	922	32	4	2903	4	SACS	13	23907175	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09		23907175	91262703	85	18973											
AKAP11	11215	genome.wustl.edu	37	chr13	42875991	42875991	+	Frame_Shift_Del	DEL	A	A	-													caggtcagaaatctgacttgAaggaatctgctaaggatcaa							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr13:42875991delA	ENST00000025301.2	+	8	3284	c.3109delA	c.(3109-3111)aagfs	p.K1037fs		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1037					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATCTGACTTGAAGGAATCTGC	0.423																																																	0								ENSG00000023516						106	102	103					13																	42875991		2203	4300	6503	AKAP11	SO:0001589	frameshift_variant	0				HGNC	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3109delA	13.37:g.42875991delA	ENSP00000025301:p.Lys1037fs	Somatic	0	75	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29	O75124|Q9NUK7	Frame_Shift_Del	DEL							NULL	p.K1037fs	ENST00000025301.2	37	c.3109	CCDS9383.1	13																																																																																			-	NULL		0.423	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	protein_coding	OTTHUMT00000044700.2	A	NM_016248			42875991	1	no_errors	ENST00000025301	ensembl	human	known	74_37	frame_shift_del	DEL	0.393	-	-	42875991	A	-	42875991	7	5	234	1	0	1	0	1	0	0	0	0	447	247	9	0	3131	0	AKAP11	13	42875991	Frame_Shift_Del	DEL	A	TCGA-X6-A8C2-01A-11D-A36J-09	18968816	42875991	72293887	86	18974											
CKAP2	26586	genome.wustl.edu	37	chr13	53048039	53048039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatacaggtgttgatgTagatccagaaaaactggaaa	11	4	0	5			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr13:53048039T>C	ENST00000378037.5	+	8	1715	c.1625T>C	c.(1624-1626)gTa>gCa	p.V542A	CKAP2_ENST00000258607.5_Missense_Mutation_p.V541A|CKAP2_ENST00000490903.1_Missense_Mutation_p.V493A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GGTGTTGATGTAGATCCAGAA	0.328																																																	0								ENSG00000136108						93	101	98					13																	53048039		2203	4300	6503	CKAP2	SO:0001583	missense	0			-	HGNC	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1625T>C	13.37:g.53048039T>C	ENSP00000367276:p.Val542Ala	Somatic	0	113	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	54	23.94		Missense_Mutation	SNP							NULL	p.V542A	ENST00000378037.5	37	c.1625	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	0.329	-0.957110	0.02267	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.21361	2.01;2.01;2.01	5.91	-1.1	0.09872	.	1.446920	0.04408	N	0.365504	T	0.16938	0.0407	L	0.53249	1.67	0.09310	N	1	B;B;B	0.21071	0.051;0.051;0.051	B;B;B	0.21546	0.035;0.035;0.035	T	0.23368	-1.0190	10	0.13108	T	0.6	-0.6036	1.8007	0.03071	0.1261:0.2838:0.1302:0.4599	.	493;542;541	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	A	541;542;493	ENSP00000258607:V541A;ENSP00000367276:V542A;ENSP00000417830:V493A	ENSP00000258607:V541A	V	+	2	0	CKAP2	51946040	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	-0.110000	0.10824	-0.100000	0.12241	-0.256000	0.11100	GTA	-	NULL		0.328	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	protein_coding	OTTHUMT00000355010.2	T		-		53048039	1	no_errors	ENST00000378037	ensembl	human	known	74_37	missense	SNP	0.000	C	C	53048039	T	C	53048039	3	2	234	1	0	0	0	0	1	0	0	0	3444	1638	57	5	1655	5	CKAP2	13	53048039	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	10172048	53048039	62121839	87	18975											
ATP4B	496	genome.wustl.edu	37	chr13	114307737	114307737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccccgtaaacatccggcCttaaggttacccctggagag	9	14	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr13:114307737C>A	ENST00000335288.4	-	3	295	c.254G>T	c.(253-255)aGg>aTg	p.R85M		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	85					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			AACATCCGGCCTTAAGGTTAC	0.512																																																	0								ENSG00000186009						183	158	166					13																	114307737		2203	4300	6503	ATP4B	SO:0001583	missense	0			-	HGNC		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"ATPases / P-type"	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.254G>T	13.37:g.114307737C>A	ENSP00000334216:p.Arg85Met	Somatic	0	51	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B1B0N8	Missense_Mutation	SNP							pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.R85M	ENST00000335288.4	37	c.254	CCDS9539.1	13	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247791	0.59103	.	.	ENSG00000186009	ENST00000335288	T	0.33216	1.42	5.02	5.02	0.67125	.	0.061993	0.64402	D	0.000006	T	0.62539	0.2436	M	0.89715	3.055	0.53688	D	0.99997	D	0.89917	1.0	D	0.79108	0.992	T	0.70506	-0.4853	10	0.59425	D	0.04	-6.4734	15.2657	0.73660	0.0:1.0:0.0:0.0	.	85	P51164	ATP4B_HUMAN	M	85	ENSP00000334216:R85M	ENSP00000334216:R85M	R	-	2	0	ATP4B	113355738	1.000000	0.71417	0.999000	0.59377	0.339000	0.28857	5.686000	0.68211	2.327000	0.79052	0.491000	0.48974	AGG	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta		0.512	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4B	protein_coding	OTTHUMT00000276703.2	C	NM_000705	-		114307737	-1	no_errors	ENST00000335288	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114307737	C	A	114307737	3	1	234	1	0	0	0	0	1	0	0	0	1146	681	24	3	641	3	ATP4B	13	114307737	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	61259698	114307737	862141	88	18976											
ADCY4	196883	genome.wustl.edu	37	chr14	24800488	24800489	+	Frame_Shift_Ins	INS	-	-	A													gccgtgacccctgtcctgccINStgcagccgtgccatgatctc							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr14:24800488_24800489insA	ENST00000310677.4	-	6	856_857	c.743_744insT	c.(742-744)cagfs	p.Q248fs	ADCY4_ENST00000554068.2_Frame_Shift_Ins_p.Q248fs|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000418030.2_Frame_Shift_Ins_p.Q248fs|ADCY4_ENST00000396747.3_De_novo_Start_OutOfFrame	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	248					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTGTCCTGCCTGCAGCCGTGC	0.559																																																	0								ENSG00000129467																																			ADCY4	SO:0001589	frameshift_variant	0				HGNC	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.743_744insT	14.37:g.24800488_24800489insA	ENSP00000312126:p.Gln248fs	Somatic	0	51	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Ins	INS							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q248fs	ENST00000310677.4	37	c.744_743	CCDS9627.1	14																																																																																			-	smart_A/G_cyclase		0.559	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	protein_coding	OTTHUMT00000073200.4	-				24800489	-1	no_errors	ENST00000310677	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	24800489	-	A	24800488	7	5	234	1	0	1	1	0	0	0	0	0	296	680	24	0	2573	0	ADCY4	14	24800488	Frame_Shift_Ins	INS	-	TCGA-X6-A8C2-01A-11D-A36J-09		24800488	82549052	89	18977											
MIA2	117153	genome.wustl.edu	37	chr14	39722117	39722117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataccctgctaaatagtcAgatggtttcaactgataact	6	8	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr14:39722117A>G	ENST00000280082.3	+	5	1932	c.1733A>G	c.(1732-1734)cAg>cGg	p.Q578R	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CTAAATAGTCAGATGGTTTCA	0.358																																																	0								ENSG00000150526						83	88	86					14																	39722117		2203	4300	6503	MIA2	SO:0001583	missense	0			-	HGNC	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1733A>G	14.37:g.39722117A>G	ENSP00000280082:p.Gln578Arg	Somatic	1	138	0.72		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A1L4H0|Q9H6C1	Missense_Mutation	SNP							pfam_SH3_2,superfamily_SH3_domain	p.Q578R	ENST00000280082.3	37	c.1733	CCDS9672.1	14	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843132	0.32606	.	.	ENSG00000150526	ENST00000280082	T	0.56941	0.43	4.49	0.514	0.17007	.	1.177780	0.06654	N	0.763283	T	0.32010	0.0815	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.17776	-1.0358	8	.	.	.	.	2.2234	0.03978	0.5936:0.1617:0.0893:0.1554	.	578	Q96PC5-2	.	R	578	ENSP00000280082:Q578R	.	Q	+	2	0	MIA2	38791868	0.001000	0.12720	0.000000	0.03702	0.239000	0.25481	1.010000	0.29898	-0.011000	0.14247	0.477000	0.44152	CAG	-	NULL		0.358	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIA2	protein_coding	OTTHUMT00000276768.3	A	NM_054024	-		39722117	1	no_errors	ENST00000280082	ensembl	human	novel	74_37	missense	SNP	0.001	G	G	39722117	A	G	39722117	3	3	234	1	0	0	0	0	1	0	0	0	9566	188	7	5	1751	5	MIA2	14	39722117	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	14921629	39722117	67627423	90	18978											
SLC8A3	6547	genome.wustl.edu	37	chr14	70634157	70634157	+	Frame_Shift_Del	DEL	G	G	-													gctgatctaagtccttctctGggtgtttttgcttcagatcc					rs144107599		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr14:70634157delG	ENST00000381269.2	-	2	1736	c.983delC	c.(982-984)ccafs	p.P328fs	SLC8A3_ENST00000356921.2_Frame_Shift_Del_p.P328fs|SLC8A3_ENST00000528359.1_Frame_Shift_Del_p.P328fs|SLC8A3_ENST00000534137.1_Frame_Shift_Del_p.P328fs|SLC8A3_ENST00000357887.3_Frame_Shift_Del_p.P328fs	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	328					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCCTTCTCTGGGTGTTTTTG	0.507																																																	0								ENSG00000100678						93	97	96					14																	70634157		2203	4300	6503	SLC8A3	SO:0001589	frameshift_variant	0				HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.983delC	14.37:g.70634157delG	ENSP00000370669:p.Pro328fs	Somatic	0	52	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Frame_Shift_Del	DEL							pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.P328fs	ENST00000381269.2	37	c.983	CCDS35498.1	14																																																																																			-	tigrfam_Na_Ca_Ex		0.507	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	G				70634157	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	70634157	G	-	70634157	7	5	234	1	0	1	0	1	0	0	0	0	14716	1348	47	0	1939	0	SLC8A3	14	70634157	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09	30912040	70634157	36715383	91	18979											
MGA	23269	genome.wustl.edu	37	chr15	41989072	41989072	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccacgaaaattgaaaCtctgtaaggcaggacgacca	11	9	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr15:41989072C>G	ENST00000570161.1	+	2	1864	c.1864C>G	c.(1864-1866)Ctc>Gtc	p.L622V	MGA_ENST00000545763.1_Missense_Mutation_p.L622V|MGA_ENST00000389936.4_Missense_Mutation_p.L622V|MGA_ENST00000566586.1_Missense_Mutation_p.L622V|MGA_ENST00000219905.7_Missense_Mutation_p.L622V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				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)	AAAATTGAAACTCTGTAAGGC	0.438																																																	0								ENSG00000174197						24	22	23					15																	41989072		1866	4100	5966	MGA	SO:0001583	missense	0			-	HGNC	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.1864C>G	15.37:g.41989072C>G	ENSP00000457035:p.Leu622Val	Somatic	0	71	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L622V	ENST00000570161.1	37	c.1864	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630510	0.28978	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.43294	0.95;0.95;0.95	5.21	2.25	0.28309	.	5.602340	0.00166	N	0.000002	T	0.35219	0.0924	N	0.24115	0.695	0.23238	N	0.998063	P;B	0.44090	0.826;0.062	B;B	0.42522	0.39;0.014	T	0.25572	-1.0128	10	0.66056	D	0.02	.	6.4956	0.22140	0.1343:0.6494:0.0:0.2162	.	622;622	F5H7K2;E7ENI0	.;.	V	622	ENSP00000219905:L622V;ENSP00000374586:L622V;ENSP00000442467:L622V	ENSP00000219905:L622V	L	+	1	0	MGA	39776364	0.893000	0.30496	0.997000	0.53966	0.814000	0.46013	0.199000	0.17237	0.197000	0.20387	0.462000	0.41574	CTC	-	NULL		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	C	NM_001164273.1	-		41989072	1	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	SNP	0.983	G	G	41989072	C	G	41989072	3	3	234	1	0	0	0	0	1	0	0	0	9542	565	20	4	1870	4	MGA	15	41989072	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09		41989072	60542320	92	18980											
ARPP19	10776	genome.wustl.edu	37	chr15	52844135	52844135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcagcctcttaatcagCcagccagcttgctagcaaca	7	14	3	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr15:52844135C>T	ENST00000566423.1	-	4	468	c.335G>A	c.(334-336)gGc>gAc	p.G112D	ARPP19_ENST00000564163.1_Missense_Mutation_p.G131D|ARPP19_ENST00000567669.1_Missense_Mutation_p.G112D|ARPP19_ENST00000563566.1_Missense_Mutation_p.G96D|ARPP19_ENST00000569281.2_Missense_Mutation_p.G112D|ARPP19_ENST00000249822.4_Missense_Mutation_p.G112D|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000561971.1_Missense_Mutation_p.G131D|ARPP19_ENST00000569723.1_Missense_Mutation_p.G71D|ARPP19_ENST00000568196.1_Missense_Mutation_p.G96D|ARPP19_ENST00000561650.1_Missense_Mutation_p.G96D|ARPP19_ENST00000563277.1_Missense_Mutation_p.G96D			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	112					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTTAATCAGCCAGCCAGCTT	0.443																																																	0								ENSG00000128989						135	130	132					15																	52844135		2194	4293	6487	ARPP19	SO:0001583	missense	0			-	HGNC	AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"endosulfine alpha-like"	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.335G>A	15.37:g.52844135C>T	ENSP00000455625:p.Gly112Asp	Somatic	0	56	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	B2R497|Q6IAM2|Q86TA6|Q9UD70	Missense_Mutation	SNP							pfam_Endosulphine	p.G112D	ENST00000566423.1	37	c.335	CCDS32242.1	15	.	.	.	.	.	.	.	.	.	.	.	25.0	4.590995	0.86851	.	.	ENSG00000128989	ENST00000249822	.	.	.	5.88	5.88	0.94601	.	0.045192	0.85682	N	0.000000	T	0.74261	0.3693	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.56823	0.807	T	0.75396	-0.3332	9	0.87932	D	0	.	20.3148	0.98648	0.0:1.0:0.0:0.0	.	112	P56211	ARP19_HUMAN	D	112	.	ENSP00000249822:G112D	G	-	2	0	ARPP19	50631427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.951000	0.70273	2.818000	0.97014	0.644000	0.83932	GGC	-	NULL		0.443	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP19	protein_coding	OTTHUMT00000419834.1	C	NM_006628	-		52844135	-1	no_errors	ENST00000249822	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52844135	C	T	52844135	3	4	234	1	0	0	0	0	1	0	0	0	977	739	26	2	7	2	ARPP19	15	52844135	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	10855063	52844135	49687257	93	18981											
GCOM1	100820829	genome.wustl.edu	37	chr15	57918073	57918073	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaactcagccttggcatcaGattccattggcctgcaagta	9	11	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr15:57918073G>C	ENST00000267853.5	+	5	602	c.508G>C	c.(508-510)Gat>Cat	p.D170H	GCOM1_ENST00000380568.3_Missense_Mutation_p.D170H|GCOM1_ENST00000587652.1_Missense_Mutation_p.D170H|GCOM1_ENST00000572390.1_Missense_Mutation_p.D170H|GCOM1_ENST00000380561.2_Missense_Mutation_p.D139H|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000396180.1_Missense_Mutation_p.D139H|GCOM1_ENST00000380569.2_Missense_Mutation_p.D170H|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.D170H|GCOM1_ENST00000574161.1_Missense_Mutation_p.D170H			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	170					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CTTGGCATCAGATTCCATTGG	0.488																																																	0								ENSG00000137878						125	107	113					15																	57918073		2192	4292	6484	GCOM1	SO:0001583	missense	0			-	HGNC	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.508G>C	15.37:g.57918073G>C	ENSP00000267853:p.Asp170His	Somatic	0	33	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP							NULL	p.D170H	ENST00000267853.5	37	c.508	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098124	0.56183	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.81	5.81	0.92471	.	0.094116	0.64402	D	0.000001	T	0.57080	0.2029	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71870	0.957;0.957;0.975;0.975	T	0.53899	-0.8373	10	0.54805	T	0.06	-30.9752	18.851	0.92230	0.0:0.0:1.0:0.0	.	170;170;170;170	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	H	170;139;139;170;170;170	ENSP00000369943:D170H;ENSP00000369935:D139H;ENSP00000379483:D139H;ENSP00000267853:D170H;ENSP00000369939:D170H;ENSP00000369942:D170H	ENSP00000267853:D170H	D	+	1	0	GCOM1	55705365	1.000000	0.71417	0.932000	0.37286	0.243000	0.25628	6.707000	0.74654	2.747000	0.94245	0.650000	0.86243	GAT	-	NULL		0.488	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	protein_coding	OTTHUMT00000255716.2	G	NM_001018100	-		57918073	1	no_errors	ENST00000380569	ensembl	human	known	74_37	missense	SNP	0.994	C	C	57918073	G	C	57918073	3	2	234	1	0	0	0	0	1	0	0	0	6306	942	33	4	526	4	GCOM1	15	57918073	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	5073938	57918073	44613319	94	18982											
MAN2A2	4122	genome.wustl.edu	37	chr15	91456916	91456916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccagtcatggcctatAtccaggacgcacagaagcgc	10	14	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr15:91456916A>G	ENST00000559717.1	+	19	3250	c.2791A>G	c.(2791-2793)Atc>Gtc	p.I931V	MAN2A2_ENST00000431652.2_Missense_Mutation_p.I439V|MAN2A2_ENST00000430376.2_Missense_Mutation_p.I121V|MAN2A2_ENST00000360468.3_Missense_Mutation_p.I931V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	931					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CATGGCCTATATCCAGGACGC	0.612																																																	0								ENSG00000196547						45	38	40					15																	91456916		2198	4298	6496	MAN2A2	SO:0001583	missense	0			-	HGNC	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2791A>G	15.37:g.91456916A>G	ENSP00000452948:p.Ile931Val	Somatic	0	27	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP							pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.I931V	ENST00000559717.1	37	c.2791	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983811	0.53827	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.87650	-2.28;-2.28;-2.28	4.98	3.85	0.44370	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.275088	0.40908	D	0.000991	D	0.90971	0.7161	M	0.79123	2.44	0.80722	D	1	P;B;B	0.39352	0.669;0.107;0.215	P;B;B	0.52554	0.702;0.391;0.384	D	0.90428	0.4422	10	0.56958	D	0.05	-31.2907	11.6398	0.51227	0.8432:0.1568:0.0:0.0	.	439;559;931	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	V	931;439;121	ENSP00000353655:I931V;ENSP00000388221:I439V;ENSP00000394372:I121V	ENSP00000353655:I931V	I	+	1	0	MAN2A2	89257920	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.134000	0.71689	0.934000	0.37316	0.397000	0.26171	ATC	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom		0.612	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	protein_coding	OTTHUMT00000418246.5	A	NM_006122	-		91456916	1	no_errors	ENST00000360468	ensembl	human	known	74_37	missense	SNP	1.000	G	G	91456916	A	G	91456916	3	3	234	1	0	0	0	0	1	0	0	0	9217	449	16	5	2861	5	MAN2A2	15	91456916	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	33538843	91456916	11074476	95	18983											
UNKL	64718	genome.wustl.edu	37	chr16	1464016	1464016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgcacttgtgctgtgAaaacagggggcactgctccg	14	12	0	1	rs202202852		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:1464016A>G	ENST00000389221.4	-	2	117	c.118T>C	c.(118-120)Tca>Cca	p.S40P	UNKL_ENST00000508903.2_Missense_Mutation_p.S40P|UNKL_ENST00000301712.5_Missense_Mutation_p.S40P|LA16c-312E8.2_ENST00000568554.1_RNA|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000397462.1_Missense_Mutation_p.S40P	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	40					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TTGTGCTGTGAAAACAGGGGG	0.662											OREG0023546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1	0.000199681	0	0.0014	5008	,	,		13997	0		0	False		,,,				2504	0																0								ENSG00000059145						23	20	21					16																	1464016		2072	4062	6134	UNKL	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.118T>C	16.37:g.1464016A>G	ENSP00000373873:p.Ser40Pro	Somatic	0	61	0	596	0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP							pfam_Znf_CCCH,smart_Znf_CCCH	p.S40P	ENST00000389221.4	37	c.118	CCDS53981.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	14.71	2.616339	0.46736	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.64438	-0.1	3.98	-6.64	0.01801	.	0.449133	0.19472	N	0.113432	T	0.24736	0.0600	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.01961	-1.1239	10	0.30078	T	0.28	.	7.3858	0.26882	0.502:0.2035:0.2945:0.0	.	40	Q9H9P5-5	.	P	40	ENSP00000373873:S40P	ENSP00000301712:S40P	S	-	1	0	UNKL	1404017	0.019000	0.18553	0.817000	0.32601	0.969000	0.65631	-0.721000	0.04963	-0.901000	0.03891	0.460000	0.39030	TCA	-	NULL		0.662	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	protein_coding		A	NM_001037125	rs202202852		1464016	-1	no_errors	ENST00000397462	ensembl	human	known	74_37	missense	SNP	0.942	G	G	1464016	A	G	1464016	3	3	234	1	0	0	0	0	1	0	0	0	17008	246	9	5	1450	5	UNKL	16	1464016	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09		1464016	88890737	96	18984											
ZNF75A	7627	genome.wustl.edu	37	chr16	3367660	3367660	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgtgggaaaagcttcagtCaaaatacaaatttacataca	8	6	2	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:3367660C>A	ENST00000574298.1	+	6	1155	c.682C>A	c.(682-684)Caa>Aaa	p.Q228K	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	228			Q -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.Q228E(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAGCTTCAGTCAAAATACAAA	0.353																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000162086						63	59	60					16																	3367660		2197	4300	6497	ZNF75A	SO:0001583	missense	0			-	HGNC	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"Zinc fingers, C2H2-type", "-"	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.682C>A	16.37:g.3367660C>A	ENSP00000459566:p.Gln228Lys	Somatic	0	35	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q0VDI8|Q92669	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q228K	ENST00000574298.1	37	c.682	CCDS10501.1	16	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035201	0.35893	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.164390	0.29348	N	0.012415	T	0.22781	0.0550	L	0.28458	0.855	0.24248	N	0.995334	P	0.50443	0.935	B	0.33960	0.173	T	0.21552	-1.0242	9	0.30854	T	0.27	.	15.2186	0.73292	0.0:1.0:0.0:0.0	.	228	Q96N20	ZN75A_HUMAN	K	228	.	ENSP00000293995:Q228K	Q	+	1	0	ZNF75A	3307661	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.247000	0.18179	2.530000	0.85305	0.557000	0.71058	CAA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF75A	protein_coding	OTTHUMT00000251506.2	C	NM_153028	-		3367660	1	no_errors	ENST00000574298	ensembl	human	known	74_37	missense	SNP	0.930	A	A	3367660	C	A	3367660	3	1	234	1	0	0	0	0	1	0	0	0	18140	827	29	3	692	3	ZNF75A	16	3367660	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	1903644	3367660	86987093	97	18985											
SNX29	92017	genome.wustl.edu	37	chr16	12497352	12497352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccctcagtgtttctccGgggcaaagcagcaaatgcat	10	12	2	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:12497352G>A	ENST00000566228.1	+	18	2072	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	SNX29_ENST00000306030.3_Missense_Mutation_p.R283Q|SNX29_ENST00000323433.4_Missense_Mutation_p.R283Q	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	668	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTGTTTCTCCGGGGCAAAGCA	0.478																																																	0								ENSG00000048471																																			SNX29	SO:0001583	missense	0			-	HGNC	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2003G>A	16.37:g.12497352G>A	ENSP00000456480:p.Arg668Gln	Somatic	0	78	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP							pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R283Q	ENST00000566228.1	37	c.848	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146214	0.77888	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.30714	1.52;1.52	5.24	5.24	0.73138	.	0.069170	0.64402	D	0.000011	T	0.35653	0.0939	L	0.41906	1.305	0.29358	N	0.864899	.	.	.	.	.	.	T	0.17531	-1.0366	8	0.29301	T	0.29	-18.0607	16.3313	0.83015	0.0:0.0:1.0:0.0	.	.	.	.	Q	283	ENSP00000306940:R283Q;ENSP00000322226:R283Q	ENSP00000306940:R283Q	R	+	2	0	SNX29	12404853	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.229000	0.65316	2.440000	0.82611	0.561000	0.74099	CGG	-	superfamily_Phox,smart_Phox,pfscan_Phox		0.478	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	protein_coding	OTTHUMT00000422622.1	G		-		12497352	1	no_errors	ENST00000306030	ensembl	human	known	74_37	missense	SNP	1.000	A	A	12497352	G	A	12497352	3	1	234	1	0	0	0	0	1	0	0	0	14906	1116	39	1	886	1	SNX29	16	12497352	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	9129692	12497352	77857401	98	18986											
BFAR	51283	genome.wustl.edu	37	chr16	14761590	14761590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccctcagtttgtttgcaActgtttgttttactgggccc	8	11	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:14761590A>G	ENST00000261658.2	+	8	1536	c.1259A>G	c.(1258-1260)aAc>aGc	p.N420S	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.N292S|BFAR_ENST00000563971.1_Missense_Mutation_p.N295S	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	420					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TTTGTTTGCAACTGTTTGTTT	0.498																																																	0								ENSG00000103429						145	139	141					16																	14761590		2197	4300	6497	BFAR	SO:0001583	missense	0			-	HGNC	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1259A>G	16.37:g.14761590A>G	ENSP00000261658:p.Asn420Ser	Somatic	0	76	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	29	36.96	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP							pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.N420S	ENST00000261658.2	37	c.1259	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615018	0.87359	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.52295	3.02;0.67	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	L	0.27053	0.805	0.58432	D	0.999998	P;D;D	0.67145	0.941;0.996;0.996	P;P;P	0.58266	0.504;0.836;0.76	T	0.57015	-0.7883	10	0.87932	D	0	.	14.938	0.70973	1.0:0.0:0.0:0.0	.	292;420;420	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	S	420;292	ENSP00000261658:N420S;ENSP00000400634:N292S	ENSP00000261658:N420S	N	+	2	0	BFAR	14669091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.280000	0.78610	2.121000	0.65114	0.460000	0.39030	AAC	-	NULL		0.498	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	protein_coding	OTTHUMT00000252088.1	A	NM_016561	-		14761590	1	no_errors	ENST00000261658	ensembl	human	known	74_37	missense	SNP	1.000	G	G	14761590	A	G	14761590	3	3	234	1	0	0	0	0	1	0	0	0	1414	43	2	5	1285	5	BFAR	16	14761590	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	2264238	14761590	75593163	99	18987											
SCNN1G	6340	genome.wustl.edu	37	chr16	23197815	23197815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcagtgcgccctcctcGtcttctccttctatactgtc	7	16	4	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:23197815G>A	ENST00000300061.2	+	2	366	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	75					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.V75I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CGCCCTCCTCGTCTTCTCCTT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000166828						65	60	62					16																	23197815		2197	4300	6497	SCNN1G	SO:0001583	missense	0			-	HGNC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.223G>A	16.37:g.23197815G>A	ENSP00000300061:p.Val75Ile	Somatic	0	29	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP							pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.V75I	ENST00000300061.2	37	c.223	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	2.750	-0.260215	0.05791	.	.	ENSG00000166828	ENST00000300061	T	0.61040	0.14	5.34	1.13	0.20643	.	0.827160	0.10918	N	0.619769	T	0.23926	0.0579	N	0.02721	-0.515	0.22728	N	0.99881	B	0.14012	0.009	B	0.12156	0.007	T	0.28839	-1.0031	10	0.02654	T	1	-35.0795	4.6443	0.12565	0.3562:0.2467:0.3971:0.0	.	75	P51170	SCNNG_HUMAN	I	75	ENSP00000300061:V75I	ENSP00000300061:V75I	V	+	1	0	SCNN1G	23105316	0.012000	0.17670	0.482000	0.27366	0.934000	0.57294	-0.027000	0.12371	0.220000	0.20860	0.563000	0.77884	GTC	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	protein_coding	OTTHUMT00000254496.1	G	NM_001039	-		23197815	1	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	SNP	0.713	A	A	23197815	G	A	23197815	3	1	234	1	0	0	0	0	1	0	0	0	13938	1145	40	1	225	1	SCNN1G	16	23197815	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	8436225	23197815	67156938	100	18988											
NUDT21	11051	genome.wustl.edu	37	chr16	56468673	56468673	+	Frame_Shift_Del	DEL	T	T	-													caaaataacttacctttttcTtgaagctgaaccagaaacaa							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:56468673delT	ENST00000300291.5	-	5	712	c.540delA	c.(538-540)caafs	p.Q180fs		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	180	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TACCTTTTTCTTGAAGCTGAA	0.299																																																	0								ENSG00000167005						105	109	107					16																	56468673		2197	4292	6489	NUDT21	SO:0001589	frameshift_variant	0				HGNC	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"Nudix motif containing"	13870	protein-coding gene	gene with protein product	"cleavage factor Im complex 25 kDa subunit"	604978	"cleavage and polyadenylation specific factor 5, 25 kDa", "cleavage and polyadenylation specific factor 5, 25 kD subunit"	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.540delA	16.37:g.56468673delT	ENSP00000300291:p.Gln180fs	Somatic	0	64	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	Q6IB85|Q6NE84	Frame_Shift_Del	DEL							superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5	p.E181fs	ENST00000300291.5	37	c.540	CCDS10760.1	16																																																																																			-	superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5		0.299	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT21	protein_coding	OTTHUMT00000256980.3	T	NM_007006			56468673	-1	no_errors	ENST00000300291	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	56468673	T	-	56468673	7	5	234	1	0	1	0	1	0	0	0	0	10740	1606	56	0	155	0	NUDT21	16	56468673	Frame_Shift_Del	DEL	T	TCGA-X6-A8C2-01A-11D-A36J-09	33270858	56468673	33886080	101	18989											
GLG1	2734	genome.wustl.edu	37	chr16	74487194	74487194	+	Frame_Shift_Del	DEL	T	T	-													ttagatggagacgtcattacTtgcatggcaagatcagagaa							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:74487194delT	ENST00000422840.2	-	26	3410	c.3411delA	c.(3409-3411)caafs	p.Q1137fs	GLG1_ENST00000447066.2_Frame_Shift_Del_p.Q1126fs|GLG1_ENST00000205061.5_Frame_Shift_Del_p.Q1137fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1137					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGTCATTACTTGCATGGCAA	0.498																																																	0								ENSG00000090863						142	119	127					16																	74487194		2198	4300	6498	GLG1	SO:0001589	frameshift_variant	0				HGNC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3411delA	16.37:g.74487194delT	ENSP00000405984:p.Gln1137fs	Somatic	0	44	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL							pfam_Cys-rich_GLG1_repeat	p.V1138fs	ENST00000422840.2	37	c.3411	CCDS45527.1	16																																																																																			-	NULL		0.498	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	protein_coding	OTTHUMT00000435750.1	T	NM_012201			74487194	-1	no_errors	ENST00000205061	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	74487194	T	-	74487194	7	5	234	1	0	1	0	1	0	0	0	0	6438	1606	56	0	212	0	GLG1	16	74487194	Frame_Shift_Del	DEL	T	TCGA-X6-A8C2-01A-11D-A36J-09	18018521	74487194	15867559	102	18990											
PLCG2	5336	genome.wustl.edu	37	chr16	81990389	81990389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctttctgtatgacacacaCcagaacttgcgcaatgccaa	6	13	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr16:81990389C>A	ENST00000359376.3	+	32	3874	c.3660C>A	c.(3658-3660)caC>caA	p.H1220Q		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1220					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGACACACACCAGAACTTGC	0.517																																																	0								ENSG00000197943						108	111	110					16																	81990389		2000	4166	6166	PLCG2	SO:0001583	missense	0			-	HGNC		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3660C>A	16.37:g.81990389C>A	ENSP00000352336:p.His1220Gln	Somatic	0	66	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP							pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.H1220Q	ENST00000359376.3	37	c.3660	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957253	0.34565	.	.	ENSG00000197943	ENST00000359376	T	0.65364	-0.15	5.56	0.788	0.18601	.	0.085587	0.85682	N	0.000000	T	0.38612	0.1047	L	0.29908	0.895	0.40250	D	0.978067	B	0.19706	0.038	B	0.17979	0.02	T	0.06197	-1.0840	10	0.13853	T	0.58	.	2.8631	0.05593	0.128:0.5028:0.1255:0.2438	.	1220	P16885	PLCG2_HUMAN	Q	1220	ENSP00000352336:H1220Q	ENSP00000352336:H1220Q	H	+	3	2	PLCG2	80547890	0.722000	0.28017	1.000000	0.80357	0.997000	0.91878	-0.333000	0.07894	0.287000	0.22375	0.555000	0.69702	CAC	-	pirsf_PLC-gamma		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	protein_coding	OTTHUMT00000432429.1	C		-		81990389	1	no_errors	ENST00000359376	ensembl	human	known	74_37	missense	SNP	0.991	A	A	81990389	C	A	81990389	3	1	234	1	0	0	0	0	1	0	0	0	12038	506	18	3	3782	3	PLCG2	16	81990389	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	7503195	81990389	8364364	103	18991											
TP53	7157	genome.wustl.edu	37	chr17	7577134	7577134	+	Frame_Shift_Del	DEL	G	G	-													caaacacgcacctcaaagctGttccgtcccagtagattacc							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:7577134delG	ENST00000269305.4	-	8	993	c.804delC	c.(802-804)aacfs	p.N268fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|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	268	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (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.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CCTCAAAGCTGTTCCGTCCCA	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	22	Deletion - In frame(8)|Whole gene deletion(8)|Unknown(2)|Substitution - coding silent(2)|Deletion - Frameshift(2)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|oesophagus(1)|breast(1)|eye(1)|ovary(1)						ENSG00000141510						56	50	52					17																	7577134		2203	4300	6503	TP53	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;		HGNC	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.804delC	17.37:g.7577134delG	ENSP00000269305:p.Asn268fs	Somatic	0	28	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	3	84.21	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N268fs	ENST00000269305.4	37	c.804	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546			7577134	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	DEL	0.425	-	-	7577134	G	-	7577134	7	5	234	1	0	1	0	1	0	0	0	0	16388	1368	48	0	482	0	TP53	17	7577134	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09		7577134	73618076	104	18992	497	3									
TP53	7157	genome.wustl.edu	37	chr17	7577136	7577136	+	Missense_Mutation	SNP	T	T	A													aacacgcacctcaaagctgtTccgtcccagtagattaccac							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:7577136T>A	ENST00000269305.4	-	8	991	c.802A>T	c.(802-804)Aac>Tac	p.N268Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.N268Y|TP53_ENST00000455263.2_Missense_Mutation_p.N268Y|TP53_ENST00000420246.2_Missense_Mutation_p.N268Y|TP53_ENST00000359597.4_Missense_Mutation_p.N268Y|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	268	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (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.0?(8)|p.N268H(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.N268fs*77(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.N268fs*8(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)|p.N268F(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)	TCAAAGCTGTTCCGTCCCAGT	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	27	Deletion - In frame(8)|Whole gene deletion(8)|Substitution - Missense(4)|Unknown(3)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|breast(2)|thyroid(1)|stomach(1)|eye(1)|ovary(1)						ENSG00000141510						55	49	51					17																	7577136		2203	4300	6503	TP53	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;	-	HGNC	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.802A>T	17.37:g.7577136T>A	ENSP00000269305:p.Asn268Tyr	Somatic	0	27	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N268Y	ENST00000269305.4	37	c.802	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193991	0.58017	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	5.13	-4.52	0.03472	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.596147	0.17821	N	0.160851	D	0.99184	0.9717	L	0.45581	1.43	0.09310	N	0.999999	D;B;D;D	0.67145	0.995;0.138;0.992;0.996	D;B;D;D	0.74348	0.956;0.117;0.962;0.983	D	0.96648	0.9479	10	0.87932	D	0	-6.849	2.6577	0.05017	0.1106:0.3308:0.3293:0.2293	.	268;268;268;268	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	268;268;268;268;268;257;136	ENSP00000352610:N268Y;ENSP00000269305:N268Y;ENSP00000398846:N268Y;ENSP00000391127:N268Y;ENSP00000391478:N268Y;ENSP00000425104:N136Y	ENSP00000269305:N268Y	N	-	1	0	TP53	7517861	0.001000	0.12720	0.074000	0.20217	0.886000	0.51366	-0.220000	0.09215	-0.688000	0.05155	0.379000	0.24179	AAC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7577136	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.001	A	A	7577136	T	A	7577136	3	1	234	1	0	0	0	0	1	0	0	0	16388	1783	62	5	484	5	TP53	17	7577136	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	2	7577136	73618074	105	18993	497	3									
TP53	7157	genome.wustl.edu	37	chr17	7577137	7577137	+	Silent	SNP	C	C	T													acacgcacctcaaagctgttCcgtcccagtagattaccact							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:7577137C>T	ENST00000269305.4	-	8	990	c.801G>A	c.(799-801)cgG>cgA	p.R267R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Silent_p.R267R|TP53_ENST00000455263.2_Silent_p.R267R|TP53_ENST00000420246.2_Silent_p.R267R|TP53_ENST00000359597.4_Silent_p.R267R|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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267R(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.N268fs*8(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)|p.R267fs*78(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)	CAAAGCTGTTCCGTCCCAGTA	0.532		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	30	Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - coding silent(4)|Unknown(3)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|breast(3)|lung(3)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|urinary_tract(2)|stomach(1)|eye(1)|ovary(1)|pancreas(1)						ENSG00000141510						54	48	50					17																	7577137		2203	4300	6503	TP53	SO:0001819	synonymous_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;	-	HGNC	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.801G>A	17.37:g.7577137C>T		Somatic	0	27	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	2	90.00	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R267	ENST00000269305.4	37	c.801	CCDS11118.1	17																																																																																			-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577137	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	SNP	0.001	T	T	7577137	C	T	7577137	2	4	234	1	0	0	0	0	0	0	0	1	16388	842	30	2		2	TP53	17	7577137	Silent	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	1	7577137	73618073	106	18994	497	3									
SREBF1	6720	genome.wustl.edu	37	chr17	17719281	17719281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcagagccactgcatgGcaggaggcactgagccactc	15	12	0	2	rs529689353		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:17719281G>T	ENST00000261646.5	-	12	2460	c.2276C>A	c.(2275-2277)gCc>gAc	p.A759D	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Missense_Mutation_p.A759D|SREBF1_ENST00000395757.1_Missense_Mutation_p.A505D|SREBF1_ENST00000355815.4_Missense_Mutation_p.A789D	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	759					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCACTGCATGGCAGGAGGCAC	0.652																																																	0								ENSG00000072310						55	52	53					17																	17719281		2203	4300	6503	SREBF1	SO:0001583	missense	0			-	HGNC	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2276C>A	17.37:g.17719281G>T	ENSP00000261646:p.Ala759Asp	Somatic	0	59	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP							pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A789D	ENST00000261646.5	37	c.2366	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.808490|2.808490	0.50421|0.50421	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641|ENST00000395751	T;T;T;T|.	0.13196|.	2.61;2.61;2.61;2.61|.	5.2|5.2	4.11|4.11	0.48088|0.48088	.|.	0.063428|.	0.64402|.	D|.	0.000008|.	T|.	0.60183|.	0.2249|.	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	P;D;P|.	0.59357|.	0.954;0.985;0.948|.	P;P;P|.	0.61533|.	0.779;0.89;0.802|.	T|.	0.57236|.	-0.7846|.	10|.	0.36615|.	T|.	0.2|.	-13.4023|-13.4023	13.5083|13.5083	0.61497|0.61497	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	759;789;378|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	D|X	759;789;759;505;378;596;685;84|766	ENSP00000345822:A759D;ENSP00000348069:A789D;ENSP00000261646:A759D;ENSP00000379106:A505D|.	ENSP00000261646:A759D|.	A|C	-|-	2|3	0|2	SREBF1|SREBF1	17660006|17660006	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.965000|0.965000	0.64279|0.64279	6.514000|6.514000	0.73746|0.73746	1.150000|1.150000	0.42419|0.42419	0.561000|0.561000	0.74099|0.74099	GCC|TGC	-	NULL		0.652	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	protein_coding	OTTHUMT00000131771.1	G	NM_004176	-		17719281	-1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17719281	G	T	17719281	3	4	234	1	0	0	0	0	1	0	0	0	15148	1203	42	3	1199	3	SREBF1	17	17719281	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	10142144	17719281	63475929	107	18995											
CD300LG	146894	genome.wustl.edu	37	chr17	41930355	41930355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcccaaggcaaaagCtcagcaaacccagcccccag	8	18	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:41930355C>A	ENST00000317310.4	+	3	496	c.455C>A	c.(454-456)gCt>gAt	p.A152D	CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.A152D|CD300LG_ENST00000586233.1_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	152					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGGCAAAAGCTCAGCAAACC	0.587																																																	0								ENSG00000161649						138	129	132					17																	41930355		2203	4300	6503	CD300LG	SO:0001583	missense	0			-	HGNC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.455C>A	17.37:g.41930355C>A	ENSP00000321005:p.Ala152Asp	Somatic	0	70	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A152D	ENST00000317310.4	37	c.455	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090617	0.07053	.	.	ENSG00000161649	ENST00000317310;ENST00000539718	T;T	0.07688	3.19;3.17	3.04	2.07	0.26955	.	0.616946	0.13478	N	0.384908	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	1	P;P	0.39250	0.665;0.535	B;B	0.43728	0.429;0.247	T	0.34104	-0.9842	10	0.36615	T	0.2	.	6.1104	0.20097	0.0:0.8568:0.0:0.1432	.	152;152	F5H7P9;Q6UXG3	.;CLM9_HUMAN	D	152	ENSP00000321005:A152D;ENSP00000442368:A152D	ENSP00000321005:A152D	A	+	2	0	CD300LG	39285881	0.040000	0.19996	0.024000	0.17045	0.018000	0.09664	0.505000	0.22642	0.857000	0.35407	0.462000	0.41574	GCT	-	NULL		0.587	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	protein_coding	OTTHUMT00000457646.1	C	NM_145273	-		41930355	1	no_errors	ENST00000317310	ensembl	human	known	74_37	missense	SNP	0.029	A	A	41930355	C	A	41930355	3	1	234	1	0	0	0	0	1	0	0	0	3004	797	28	3	465	3	CD300LG	17	41930355	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	24211074	41930355	39264855	108	18996											
AMZ2	51321	genome.wustl.edu	37	chr17	66246341	66246341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttagatgcaaataataCggcactccgaacagacacta	7	9	0	2	rs532820909		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:66246341C>T	ENST00000359904.3	+	2	1145	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	AMZ2_ENST00000577866.1_Missense_Mutation_p.R5W|AMZ2_ENST00000577985.1_Missense_Mutation_p.R5W|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Missense_Mutation_p.R5W|AMZ2_ENST00000392720.2_Missense_Mutation_p.R5W|AMZ2_ENST00000359783.4_Missense_Mutation_p.R5W|AMZ2_ENST00000580753.1_Missense_Mutation_p.R5W	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	5							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCAAATAATACGGCACTCCGA	0.343													C|||	1	0.000199681	0	0	5008	,	,		20400	0		0	False		,,,				2504	0.001																0								ENSG00000196704						75	79	78					17																	66246341		2203	4300	6503	AMZ2	SO:0001583	missense	0			-	HGNC	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.13C>T	17.37:g.66246341C>T	ENSP00000352976:p.Arg5Trp	Somatic	0	85	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP							pfam_Pept_M54_archaemetzincn	p.R5W	ENST00000359904.3	37	c.13	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168251	0.01660	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.19938	2.11;2.11;2.11	3.71	1.58	0.23477	.	0.721746	0.11673	N	0.540610	T	0.21718	0.0523	L	0.57536	1.79	0.09310	N	1	D;D	0.61697	0.978;0.99	B;B	0.43623	0.425;0.425	T	0.14090	-1.0485	10	0.87932	D	0	-32.5953	7.065	0.25147	0.1861:0.451:0.3629:0.0	.	5;5	A6NLD9;Q86W34	.;AMZ2_HUMAN	W	5	ENSP00000352976:R5W;ENSP00000352831:R5W;ENSP00000376481:R5W	ENSP00000352831:R5W	R	+	1	2	AMZ2	63757936	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.302000	0.19192	0.320000	0.23234	0.456000	0.33151	CGG	-	NULL		0.343	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	protein_coding	OTTHUMT00000448261.1	C	NM_016627	-		66246341	1	no_errors	ENST00000359904	ensembl	human	known	74_37	missense	SNP	0.000	T	T	66246341	C	T	66246341	3	4	234	1	0	0	0	0	1	0	0	0	597	527	19	1	15	1	AMZ2	17	66246341	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	24315986	66246341	14948869	109	18997											
ABCA8	10351	genome.wustl.edu	37	chr17	66865867	66865867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaatttgaagaaagcttggGctaaaggttgcacatcttcc	9	8	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:66865867G>T	ENST00000269080.2	-	36	4702	c.4565C>A	c.(4564-4566)gCc>gAc	p.A1522D	ABCA8_ENST00000586539.1_Missense_Mutation_p.A1562D|ABCA8_ENST00000430352.2_Missense_Mutation_p.A1562D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1522					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAAGCTTGGGCTAAAGGTTG	0.388																																																	0								ENSG00000141338						137	137	137					17																	66865867		2203	4300	6503	ABCA8	SO:0001583	missense	0			-	HGNC	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4565C>A	17.37:g.66865867G>T	ENSP00000269080:p.Ala1522Asp	Somatic	0	72	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1562D	ENST00000269080.2	37	c.4685	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391707	0.83011	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.88046	-2.33;-2.33	4.83	3.84	0.44239	.	0.669254	0.13032	N	0.419270	D	0.90466	0.7014	M	0.79343	2.45	0.09310	N	0.999999	P;P;P	0.43973	0.616;0.823;0.616	B;P;B	0.48677	0.15;0.586;0.272	D	0.83724	0.0194	10	0.87932	D	0	.	14.3926	0.66989	0.0:0.1489:0.8511:0.0	.	1562;1562;1522	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	D	1522;1562	ENSP00000269080:A1522D;ENSP00000402814:A1562D	ENSP00000269080:A1522D	A	-	2	0	ABCA8	64377462	0.955000	0.32602	0.007000	0.13788	0.947000	0.59692	5.722000	0.68485	1.357000	0.45904	0.561000	0.74099	GCC	-	NULL		0.388	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	protein_coding	OTTHUMT00000450172.1	G	NM_007168	-		66865867	-1	no_errors	ENST00000430352	ensembl	human	known	74_37	missense	SNP	0.255	T	T	66865867	G	T	66865867	3	4	234	1	0	0	0	0	1	0	0	0	38	1203	42	3	192	3	ABCA8	17	66865867	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	619526	66865867	14329343	110	18998											
FASN	2194	genome.wustl.edu	37	chr17	80042811	80042811	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgtgggaggtgctgctgagGttggagagcagcacacacct	16	9	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr17:80042811G>C	ENST00000306749.2	-	26	4646	c.4428C>G	c.(4426-4428)aaC>aaG	p.N1476K	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1476					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGCTGCTGAGGTTGGAGAGCA	0.677																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						14	12	13					17																	80042811		2059	4082	6141	FASN	SO:0001583	missense	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4428C>G	17.37:g.80042811G>C	ENSP00000304592:p.Asn1476Lys	Somatic	0	71	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	90	16.67	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP							pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.N1476K	ENST00000306749.2	37	c.4428	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	7.660	0.684781	0.14973	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.25414	1.8	3.54	3.54	0.40534	.	0.175826	0.48286	D	0.000196	T	0.22085	0.0532	L	0.49126	1.545	0.46478	D	0.999065	P	0.37423	0.594	B	0.30316	0.114	T	0.15263	-1.0443	10	0.66056	D	0.02	-35.9713	13.4136	0.60956	0.0:0.0:1.0:0.0	.	1476	P49327	FAS_HUMAN	K	1476;441	ENSP00000304592:N1476K	ENSP00000304592:N1476K	N	-	3	2	FASN	77636100	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	1.414000	0.34736	1.772000	0.52199	0.313000	0.20887	AAC	-	NULL		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	G	NM_004104	-		80042811	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	SNP	1.000	C	C	80042811	G	C	80042811	3	2	234	1	0	0	0	0	1	0	0	0	5685	1252	44	4	3179	4	FASN	17	80042811	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	13176944	80042811	1152399	111	18999											
CEP192	55125	genome.wustl.edu	37	chr18	13068181	13068181	+	Frame_Shift_Del	DEL	G	G	-													ttgcgctgatgtggtcactcGgctagcaggcccttctgtgg							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr18:13068181delG	ENST00000325971.8	+	21	4508	c.2915delG	c.(2914-2916)cggfs	p.R972fs	CEP192_ENST00000506447.1_Frame_Shift_Del_p.R1568fs|CEP192_ENST00000430049.2_Frame_Shift_Del_p.R1093fs			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	972					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGTCACTCGGCTAGCAGGC	0.493																																																	0								ENSG00000101639						78	79	79					18																	13068181		2203	4300	6503	CEP192	SO:0001589	frameshift_variant	0				HGNC	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2915delG	18.37:g.13068181delG	ENSP00000317156:p.Arg972fs	Somatic	0	50	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Frame_Shift_Del	DEL							NULL	p.L1569fs	ENST00000325971.8	37	c.4703		18																																																																																			-	NULL		0.493	CEP192-201	KNOWN	basic	protein_coding	CEP192	protein_coding		G	NM_032142			13068181	1	no_errors	ENST00000506447	ensembl	human	known	74_37	frame_shift_del	DEL	0.008	-	-	13068181	G	-	13068181	7	5	234	1	0	1	0	1	0	0	0	0	3253	1116	39	0	4789	0	CEP192	18	13068181	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09		13068181	65009067	112	19000											
ZNF521	25925	genome.wustl.edu	37	chr18	22806657	22806657	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaataattgtttgttgcagtAaatacagctgtaggtaactt	8	4	0	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr18:22806657A>T	ENST00000361524.3	-	4	1373	c.1225T>A	c.(1225-1227)Tac>Aac	p.Y409N	ZNF521_ENST00000538137.2_Missense_Mutation_p.Y409N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Y189N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	409					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTTGCAGTAAATACAGCTG	0.443			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						95	92	93					18																	22806657		2203	4300	6503	ZNF521	SO:0001583	missense	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1225T>A	18.37:g.22806657A>T	ENSP00000354794:p.Tyr409Asn	Somatic	0	60	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y409N	ENST00000361524.3	37	c.1225	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501063	0.26861	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10382	2.88;2.92	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);	0.059313	0.64402	D	0.000001	T	0.22666	0.0547	L	0.29908	0.895	0.47276	D	0.999378	D	0.76494	0.999	D	0.68943	0.961	T	0.00712	-1.1598	10	0.49607	T	0.09	-43.2009	16.8061	0.85666	1.0:0.0:0.0:0.0	.	409	Q96K83	ZN521_HUMAN	N	409;443;409	ENSP00000354794:Y409N;ENSP00000382352:Y409N	ENSP00000354794:Y409N	Y	-	1	0	ZNF521	21060655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	TAC	-	smart_Znf_C2H2-like		0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	A	NM_015461	-		22806657	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22806657	A	T	22806657	3	4	234	1	0	0	0	0	1	0	0	0	17972	362	13	5	2730	5	ZNF521	18	22806657	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	9738476	22806657	55270591	113	19001											
WDR7	23335	genome.wustl.edu	37	chr18	54687985	54687985	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttattttagacaatccatGgacacaagggaccaatcact	6	9	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr18:54687985G>T	ENST00000254442.3	+	27	4385	c.4174G>T	c.(4174-4176)Gga>Tga	p.G1392*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.G1359*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1392					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GACAATCCATGGACACAAGGG	0.388																																																	0								ENSG00000091157						142	124	130					18																	54687985		2203	4300	6503	WDR7	SO:0001587	stop_gained	0			-	HGNC	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4174G>T	18.37:g.54687985G>T	ENSP00000254442:p.Gly1392*	Somatic	0	43	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP							pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1392*	ENST00000254442.3	37	c.4174	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	46	12.242592	0.99649	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	1392;1359;717;1359	.	ENSP00000254442:G1392X	G	+	1	0	WDR7	52838983	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.693000	0.98684	2.941000	0.99782	0.655000	0.94253	GGA	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.388	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	protein_coding	OTTHUMT00000256062.1	G		-		54687985	1	no_errors	ENST00000254442	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	54687985	G	T	54687985	4	4	234	1	0	0	0	0	0	1	0	0	17327	1349	47	3	4276	3	WDR7	18	54687985	Nonsense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	31881328	54687985	23389263	114	19002											
NFIX	4784	genome.wustl.edu	37	chr19	13136278	13136278	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaagtcgcctcagtgctcGaaccccggcctgtgcgtcca	10	16	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:13136278G>A	ENST00000592199.1	+	2	471	c.471G>A	c.(469-471)tcG>tcA	p.S157S	NFIX_ENST00000360105.4_Silent_p.S160S|NFIX_ENST00000588228.1_Silent_p.S110S|NFIX_ENST00000585575.1_Silent_p.S149S|NFIX_ENST00000358552.3_Silent_p.S156S|NFIX_ENST00000587260.1_Silent_p.S156S|NFIX_ENST00000587760.1_Silent_p.S149S|NFIX_ENST00000397661.2_Silent_p.S157S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	157					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|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)	nucleus (GO:0005634)	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)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCAGTGCTCGAACCCCGGCC	0.537																																																	0								ENSG00000008441						40	42	41					19																	13136278		2137	4263	6400	NFIX	SO:0001819	synonymous_variant	0			-	HGNC	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.471G>A	19.37:g.13136278G>A		Somatic	0	70	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP							pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.S149	ENST00000592199.1	37	c.447		19																																																																																			-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom		0.537	NFIX-013	NOVEL	basic	protein_coding	NFIX	protein_coding	OTTHUMT00000452763.1	G	NM_002501	-		13136278	1	no_errors	ENST00000585575	ensembl	human	known	74_37	silent	SNP	1.000	A	A	13136278	G	A	13136278	2	1	234	1	0	0	0	0	0	0	0	1	10376	1045	37	1		1	NFIX	19	13136278	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		13136278	45992705	115	19003											
NOTCH3	4854	genome.wustl.edu	37	chr19	15271540	15271540	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtctgggcctgagcaAgggagctgggaacagacaag	18	8	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:15271540A>T	ENST00000263388.2	-	33	6974	c.6899T>A	c.(6898-6900)cTt>cAt	p.L2300H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2300					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCCTGAGCAAGGGAGCTGGG	0.642																																																	0								ENSG00000074181						53	62	59					19																	15271540		2203	4300	6503	NOTCH3	SO:0001583	missense	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6899T>A	19.37:g.15271540A>T	ENSP00000263388:p.Leu2300His	Somatic	0	76	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.L2300H	ENST00000263388.2	37	c.6899	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197781	0.38806	.	.	ENSG00000074181	ENST00000263388	D	0.82526	-1.62	3.77	2.65	0.31530	.	.	.	.	.	T	0.71298	0.3323	N	0.08118	0	0.09310	N	1	D	0.56746	0.977	P	0.49708	0.62	T	0.61019	-0.7147	9	0.42905	T	0.14	.	7.5307	0.27681	0.8084:0.0:0.0:0.1916	.	2300	Q9UM47	NOTC3_HUMAN	H	2300	ENSP00000263388:L2300H	ENSP00000263388:L2300H	L	-	2	0	NOTCH3	15132540	0.066000	0.20996	0.012000	0.15200	0.935000	0.57460	0.031000	0.13710	1.720000	0.51447	0.482000	0.46254	CTT	-	pirsf_Notch		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	A	NM_000435	-		15271540	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	SNP	0.024	T	T	15271540	A	T	15271540	3	4	234	1	0	0	0	0	1	0	0	0	10552	72	3	5	70	5	NOTCH3	19	15271540	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	2135262	15271540	43857443	116	19004											
LGALS7B	653499	genome.wustl.edu	37	chr19	39281369	39281369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggggaggagcagggctccGatgccgccctgcatttcaac	15	13	1	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:39281369G>A	ENST00000314980.4	+	3	152	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	46	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										GCAGGGCTCCGATGCCGCCCT	0.642																																																	0								ENSG00000178934						35	38	37					19																	39281369		2201	4298	6499	LGALS7B	SO:0001583	missense	0			-	HGNC		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"Lectins, galactoside-binding"	34447	protein-coding gene	gene with protein product	"galectin 7B"						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.136G>A	19.37:g.39281369G>A	ENSP00000313571:p.Asp46Asn	Somatic	0	265	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	192	11.11	Q6IB87	Missense_Mutation	SNP							pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.D46N	ENST00000314980.4	37	c.136	CCDS42565.1	19	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632873	0.67015	.	.	ENSG00000178934	ENST00000314980	T	0.20881	2.04	4.31	4.31	0.51392	.	0.336624	0.25419	N	0.030807	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10086	-1.0645	7	0.59425	D	0.04	-50.8757	13.8728	0.63629	0.0:0.0:1.0:0.0	.	.	.	.	N	46	ENSP00000313571:D46N	ENSP00000313571:D46N	D	+	1	0	LGALS7B	43973209	0.032000	0.19561	0.010000	0.14722	0.001000	0.01503	1.553000	0.36255	2.241000	0.73720	0.650000	0.86243	GAT	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.642	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS7B	protein_coding	OTTHUMT00000462638.1	G		-		39281369	1	no_errors	ENST00000314980	ensembl	human	known	74_37	missense	SNP	0.022	A	A	39281369	G	A	39281369	3	1	234	1	0	0	0	0	1	0	0	0	8748	1058	37	1	146	1	LGALS7B	19	39281369	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	24009829	39281369	19847614	117	19005											
RAB4B	53916	genome.wustl.edu	37	chr19	41289870	41289870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggctgacggatgcccGcaccctggccagccccaaca	11	18	0	1	rs556443632		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:41289870G>A	ENST00000594800.1	+	5	480	c.320G>A	c.(319-321)cGc>cAc	p.R107H	RAB4B_ENST00000357052.2_Missense_Mutation_p.R107H|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.R107H|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	107					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACGGATGCCCGCACCCTGGCC	0.632													G|||	1	0.000199681	0	0	5008	,	,		14248	0		0	False		,,,				2504	0.001																0								ENSG00000167578						43	40	41					19																	41289870		2203	4300	6503	RAB4B	SO:0001583	missense	0			-	HGNC	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.320G>A	19.37:g.41289870G>A	ENSP00000470246:p.Arg107His	Somatic	0	102	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP							pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R107H	ENST00000594800.1	37	c.320	CCDS33030.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041244	0.75732	.	.	ENSG00000167578	ENST00000357052	T	0.80480	-1.38	4.88	3.85	0.44370	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.83128	0.5187	L	0.42686	1.345	0.80722	D	1	D;D	0.76494	0.999;0.977	P;P	0.61477	0.889;0.472	D	0.84038	0.0363	10	0.87932	D	0	.	11.6392	0.51222	0.0886:0.0:0.9114:0.0	.	142;107	P61018-2;P61018	.;RAB4B_HUMAN	H	107	ENSP00000349560:R107H	ENSP00000349560:R107H	R	+	2	0	RAB4B	45981710	1.000000	0.71417	0.678000	0.29963	0.803000	0.45373	9.720000	0.98763	1.045000	0.40225	0.478000	0.44815	CGC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.632	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4B	protein_coding	OTTHUMT00000463168.1	G	NM_016154	-		41289870	1	no_errors	ENST00000357052	ensembl	human	known	74_37	missense	SNP	1.000	A	A	41289870	G	A	41289870	3	1	234	1	0	0	0	0	1	0	0	0	12955	1087	38	1	338	1	RAB4B	19	41289870	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	2008501	41289870	17839113	118	19006											
CEACAM1	634	genome.wustl.edu	37	chr19	43025657	43025657	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgaaggggaaatggtGggggtgtccgggccatctgg	20	6	2	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:43025657G>T	ENST00000161559.6	-	4	854	c.720C>A	c.(718-720)ccC>ccA	p.P240P	CEACAM1_ENST00000403444.3_Silent_p.P240P|CEACAM1_ENST00000352591.5_Silent_p.P240P|CEACAM1_ENST00000599389.1_Silent_p.P240P|CEACAM1_ENST00000403461.1_Silent_p.P240P|CEACAM1_ENST00000358394.3_Silent_p.P240P|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.P200P	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	240	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGGAAATGGTGGGGGTGTCCG	0.557																																																	0								ENSG00000079385						102	107	105					19																	43025657		2203	4300	6503	CEACAM1	SO:0001819	synonymous_variant	0			-	HGNC	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.720C>A	19.37:g.43025657G>T		Somatic	0	101	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP							pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P240	ENST00000161559.6	37	c.720	CCDS12609.1	19																																																																																			-	pfscan_Ig-like_dom		0.557	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	protein_coding	OTTHUMT00000321190.2	G	NM_001712	-		43025657	-1	no_errors	ENST00000161559	ensembl	human	known	74_37	silent	SNP	0.974	T	T	43025657	G	T	43025657	2	4	234	1	0	0	0	0	0	0	0	1	3189	1335	47	3		3	CEACAM1	19	43025657	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	1735787	43025657	16103326	119	19007											
MYBPC2	4606	genome.wustl.edu	37	chr19	50949209	50949209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcaagaaggacgggaaGcgccacatcctcatcttctc	9	14	4	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:50949209G>A	ENST00000357701.5	+	12	1257	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	402	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGACGGGAAGCGCCACATCC	0.567																																																	0								ENSG00000086967						67	71	70					19																	50949209		2066	4200	6266	MYBPC2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1206G>A	19.37:g.50949209G>A		Somatic	0	63	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67	A1L4G9	Silent	SNP							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K402	ENST00000357701.5	37	c.1206	CCDS46152.1	19																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.567	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	protein_coding	OTTHUMT00000464751.1	G	NM_004533	-		50949209	1	no_errors	ENST00000357701	ensembl	human	known	74_37	silent	SNP	1.000	A	A	50949209	G	A	50949209	2	1	234	1	0	0	0	0	0	0	0	1	10014	962	34	2		2	MYBPC2	19	50949209	Silent	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	7923552	50949209	8179774	120	19008											
ASPDH	554235	genome.wustl.edu	37	chr19	51015485	51015485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggtgtgcacagcaaagCttcggcccgtggggccccgg	17	13	0	0			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr19:51015485C>T	ENST00000389208.4	-	6	777	c.716G>A	c.(715-717)aGc>aAc	p.S239N	JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.S134N	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	239					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CACAGCAAAGCTTCGGCCCGT	0.692																																																	0								ENSG00000204653						23	29	27					19																	51015485		2201	4300	6501	ASPDH	SO:0001583	missense	0			-	HGNC		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.716G>A	19.37:g.51015485C>T	ENSP00000373860:p.Ser239Asn	Somatic	0	54	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	Q6NZ37	Missense_Mutation	SNP							pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd	p.S239N	ENST00000389208.4	37	c.716	CCDS46153.1	19	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528809	0.27387	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.45668	0.89;0.89	3.47	1.04	0.20106	Aspartate dehydrogenase (1);	1.248550	0.06032	N	0.653346	T	0.30166	0.0756	L	0.36672	1.1	0.22620	N	0.998922	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22208	-1.0223	10	0.25751	T	0.34	-5.5901	4.2875	0.10862	0.0:0.6233:0.238:0.1387	.	239;134	A6ND91;A6ND91-2	ASPD_HUMAN;.	N	134;239	ENSP00000366114:S134N;ENSP00000373860:S239N	ENSP00000366114:S134N	S	-	2	0	ASPDH	55707297	0.001000	0.12720	0.650000	0.29550	0.916000	0.54674	-0.180000	0.09754	0.591000	0.29711	0.462000	0.41574	AGC	-	pfam_Asp_DH		0.692	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	protein_coding	OTTHUMT00000464861.1	C	NM_001024656	-		51015485	-1	no_errors	ENST00000389208	ensembl	human	known	74_37	missense	SNP	0.613	T	T	51015485	C	T	51015485	3	4	234	1	0	0	0	0	1	0	0	0	1051	797	28	2	143	2	ASPDH	19	51015485	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09	66276	51015485	8113498	121	19009											
ACTR5	79913	genome.wustl.edu	37	chr20	37380900	37380900	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accctcagccgcatggaggaGattctgcatgagcacagcta	11	12	2	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr20:37380900G>C	ENST00000243903.4	+	3	769	c.732G>C	c.(730-732)gaG>gaC	p.E244D		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	244					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCATGGAGGAGATTCTGCATG	0.527																																																	0								ENSG00000101442						107	87	94					20																	37380900		2203	4300	6503	ACTR5	SO:0001583	missense	0			-	HGNC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.732G>C	20.37:g.37380900G>C	ENSP00000243903:p.Glu244Asp	Somatic	0	71	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related	p.E244D	ENST00000243903.4	37	c.732	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812981	0.70912	.	.	ENSG00000101442	ENST00000243903	T	0.06687	3.27	5.62	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	N	0.17082	0.46	0.48185	D	0.999607	D	0.76494	0.999	D	0.80764	0.994	T	0.12734	-1.0536	10	0.38643	T	0.18	-32.7063	9.48	0.38895	0.2766:0.0:0.7234:0.0	.	244	Q9H9F9	ARP5_HUMAN	D	244	ENSP00000243903:E244D	ENSP00000243903:E244D	E	+	3	2	ACTR5	36814314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.166000	0.42406	1.505000	0.48720	0.561000	0.74099	GAG	-	pfam_Actin-related,smart_Actin-related		0.527	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	protein_coding	OTTHUMT00000079205.2	G	NM_024855	-		37380900	1	no_errors	ENST00000243903	ensembl	human	known	74_37	missense	SNP	1.000	C	C	37380900	G	C	37380900	3	2	234	1	0	0	0	0	1	0	0	0	215	933	33	4	742	4	ACTR5	20	37380900	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09		37380900	25644620	122	19010											
TSHZ2	128553	genome.wustl.edu	37	chr20	51872532	51872539	+	Frame_Shift_Del	DEL	GTCCAACT	GTCCAACT	-													cataaaagaaaaggccggcaGtccaactggaatcctcagca					rs377415955		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	GTCCAACT	GTCCAACT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr20:51872532_51872539delGTCCAACT	ENST00000371497.5	+	2	3422_3429	c.2535_2542delGTCCAACT	c.(2533-2544)cagtccaactggfs	p.SNW846fs	TSHZ2_ENST00000603338.2_Frame_Shift_Del_p.SNW843fs|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Frame_Shift_Del_p.SNW843fs	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	846					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGGCCGGCAGTCCAACTGGAATCCTCA	0.524																																																	0								ENSG00000182463																																			TSHZ2	SO:0001589	frameshift_variant	0				HGNC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2535_2542delGTCCAACT	20.37:g.51872532_51872539delGTCCAACT	ENSP00000360552:p.Ser846fs	Somatic					0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Frame_Shift_Del	DEL							superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S846fs	ENST00000371497.5	37	c.2535_2542	CCDS33490.1	20																																																																																			-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.524	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	GTCCAACT	NM_173485			51872539	1	no_errors	ENST00000371497	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	51872539	GTCCAACT	-	51872532	7	5	234	1	0	1	0	1	0	0	0	0	16631	1020	36	0	2541	0	TSHZ2	20	51872532	Frame_Shift_Del	DEL	GTCCAACT	TCGA-X6-A8C2-01A-11D-A36J-09	14491632	51872532	11152988	123	19011											
MX1	4599	genome.wustl.edu	37	chr21	42830644	42830644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggagcggcttgcacggCtgacgcaggctcggcgccgg	18	12	0	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr21:42830644C>G	ENST00000398600.2	+	19	2973	c.1948C>G	c.(1948-1950)Ctg>Gtg	p.L650V	MX1_ENST00000398598.3_Missense_Mutation_p.L650V|MX1_ENST00000455164.2_Missense_Mutation_p.L650V|MX1_ENST00000288383.6_Missense_Mutation_p.L627V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	650	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTTGCACGGCTGACGCAGGC	0.652																																																	0								ENSG00000157601						42	46	44					21																	42830644		2203	4300	6503	MX1	SO:0001583	missense	0			-	HGNC		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1948C>G	21.37:g.42830644C>G	ENSP00000381601:p.Leu650Val	Somatic	0	56	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP							pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.L650V	ENST00000398600.2	37	c.1948	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957716	0.53400	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.88704	2.975	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	D	0.86567	0.1845	10	0.87932	D	0	-31.8418	13.8894	0.63729	0.0:1.0:0.0:0.0	.	650	P20591	MX1_HUMAN	V	650;650;650;627	ENSP00000381601:L650V;ENSP00000381599:L650V;ENSP00000410523:L650V;ENSP00000288383:L627V	ENSP00000288383:L627V	L	+	1	2	MX1	41752514	1.000000	0.71417	0.974000	0.42286	0.015000	0.08874	3.642000	0.54367	2.547000	0.85894	0.655000	0.94253	CTG	-	pfam_GED,superfamily_P-loop_NTPase,smart_GED		0.652	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	protein_coding	OTTHUMT00000195161.2	C		-		42830644	1	no_errors	ENST00000398598	ensembl	human	known	74_37	missense	SNP	1.000	G	G	42830644	C	G	42830644	3	3	234	1	0	0	0	0	1	0	0	0	9999	796	28	4	1998	4	MX1	21	42830644	Missense_Mutation	SNP	C	TCGA-X6-A8C2-01A-11D-A36J-09		42830644	5299251	124	19012											
C21orf58	54058	genome.wustl.edu	37	chr21	47734706	47734706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatgcccgtggggggcAgctctgggggcagggctgac	21	9	1	1			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr21:47734706A>G	ENST00000291691.7	-	5	1669	c.533T>C	c.(532-534)cTg>cCg	p.L178P	C21orf58_ENST00000397680.1_Missense_Mutation_p.L72P|C21orf58_ENST00000397679.1_Missense_Mutation_p.L72P|C21orf58_ENST00000397682.3_Missense_Mutation_p.L72P|C21orf58_ENST00000397683.1_Missense_Mutation_p.L72P	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	178										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CGTGGGGGGCAGCTCTGGGGG	0.687																																																	0								ENSG00000160298						11	12	11					21																	47734706		2059	4074	6133	C21orf58	SO:0001583	missense	0			-	HGNC		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.533T>C	21.37:g.47734706A>G	ENSP00000291691:p.Leu178Pro	Somatic	0	60	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KPI1	Missense_Mutation	SNP							NULL	p.L178P	ENST00000291691.7	37	c.533	CCDS13735.1	21	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816328	0.50527	.	.	ENSG00000160298	ENST00000397683;ENST00000417060;ENST00000397682;ENST00000291691;ENST00000397679;ENST00000397680	T;T;T;T;T;T	0.48836	0.8;2.0;0.8;2.0;0.8;0.8	4.89	1.17	0.20885	.	0.925683	0.08839	N	0.886189	T	0.47284	0.1437	L	0.40543	1.245	0.09310	N	1	D;D;P	0.60160	0.972;0.987;0.799	P;P;B	0.52217	0.6;0.693;0.366	T	0.35301	-0.9794	10	0.72032	D	0.01	-6.8364	6.7925	0.23707	0.7125:0.0:0.2875:0.0	.	178;72;178	P58505;Q8N7N9;P58505-2	CU058_HUMAN;.;.	P	72;140;72;178;72;72	ENSP00000380799:L72P;ENSP00000402356:L140P;ENSP00000380798:L72P;ENSP00000291691:L178P;ENSP00000380796:L72P;ENSP00000380797:L72P	ENSP00000291691:L178P	L	-	2	0	C21orf58	46559134	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.155000	0.10115	0.023000	0.15187	0.460000	0.39030	CTG	-	NULL		0.687	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	protein_coding	OTTHUMT00000207283.1	A	NM_058180	-		47734706	-1	no_errors	ENST00000291691	ensembl	human	known	74_37	missense	SNP	0.000	G	G	47734706	A	G	47734706	3	3	234	1	0	0	0	0	1	0	0	0	2131	188	7	5	451	5	C21orf58	21	47734706	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09	4904062	47734706	395189	125	19013											
PPIL2	23759	genome.wustl.edu	37	chr22	22035663	22035663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgaggacgaccggcaAcgtctacgcctatgaggtgt	15	10	1	2			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr22:22035663A>T	ENST00000335025.8	+	7	462	c.371A>T	c.(370-372)aAc>aTc	p.N124I	PPIL2_ENST00000406385.1_Missense_Mutation_p.N124I|PPIL2_ENST00000492445.2_Missense_Mutation_p.N124I|PPIL2_ENST00000456792.2_Missense_Mutation_p.N103I|PPIL2_ENST00000398831.3_Missense_Mutation_p.N124I|PPIL2_ENST00000412327.1_Missense_Mutation_p.N124I					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACGACCGGCAACGTCTACGCC	0.587																																																	0								ENSG00000100023						143	103	116					22																	22035663		2203	4300	6503	PPIL2	SO:0001583	missense	0			-	HGNC		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.371A>T	22.37:g.22035663A>T	ENSP00000334553:p.Asn124Ile	Somatic	0	23	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08		Missense_Mutation	SNP							pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.N124I	ENST00000335025.8	37	c.371	CCDS13793.1	22	.	.	.	.	.	.	.	.	.	.	A	32	5.125276	0.94429	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	0.997;0.982;1.0	D;D;D	0.91635	0.967;0.933;0.999	T	0.73062	-0.4101	10	0.66056	D	0.02	.	15.0889	0.72177	1.0:0.0:0.0:0.0	.	103;124;124	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	I	124;124;124;124;155;124;103	ENSP00000390427:N124I;ENSP00000334553:N124I;ENSP00000381812:N124I;ENSP00000445312:N124I;ENSP00000384299:N124I;ENSP00000396228:N103I	ENSP00000334553:N124I	N	+	2	0	PPIL2	20365663	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	8.809000	0.91944	2.116000	0.64780	0.459000	0.35465	AAC	-	pfam_Rtf2_RING-finger		0.587	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL2	protein_coding	OTTHUMT00000075028.4	A		-		22035663	1	no_errors	ENST00000412327	ensembl	human	known	74_37	missense	SNP	1.000	T	T	22035663	A	T	22035663	3	4	234	1	0	0	0	0	1	0	0	0	12332	43	2	5	397	5	PPIL2	22	22035663	Missense_Mutation	SNP	A	TCGA-X6-A8C2-01A-11D-A36J-09		22035663	29268903	126	19014											
MTMR3	8897	genome.wustl.edu	37	chr22	30415667	30415667	+	Frame_Shift_Del	DEL	G	G	-													gggaagcccaccagagtgccGgggggtgccgagctttctgt					rs148069934		TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chr22:30415667delG	ENST00000401950.2	+	17	2361	c.2019delG	c.(2017-2019)ccgfs	p.P673fs	MTMR3_ENST00000351488.3_Frame_Shift_Del_p.P673fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.P673fs|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Del_p.P537fs|MTMR3_ENST00000333027.3_Frame_Shift_Del_p.P673fs	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	673					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)			CCAGAGTGCCGGGGGGTGCCG	0.627																																																	0								ENSG00000100330						52	62	59					22																	30415667		2203	4300	6503	MTMR3	SO:0001589	frameshift_variant	0				HGNC	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.2019delG	22.37:g.30415667delG	ENSP00000384651:p.Pro673fs	Somatic	0	67	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Del	DEL							pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G675fs	ENST00000401950.2	37	c.2019	CCDS13870.1	22																																																																																			-	NULL		0.627	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	protein_coding	OTTHUMT00000322066.1	G	NM_021090			30415667	1	no_errors	ENST00000401950	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-	-	30415667	G	-	30415667	7	5	234	1	0	1	0	1	0	0	0	0	9947	1103	39	0	2077	0	MTMR3	22	30415667	Frame_Shift_Del	DEL	G	TCGA-X6-A8C2-01A-11D-A36J-09	8380004	30415667	20888899	127	19015											
CHM	1121	genome.wustl.edu	37	chrX	85213903	85213904	+	Frame_Shift_Del	DEL	GT	GT	-													ctcgaaatgcaagaatcctgGtaatatttttaaactctgca							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chrX:85213903_85213904delGT	ENST00000357749.2	-	6	810_811	c.781_782delAC	c.(781-783)accfs	p.T261fs	CHM_ENST00000537751.1_Frame_Shift_Del_p.T113fs|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	261					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAGAATCCTGGTAATATTTTTA	0.347																																																	0								ENSG00000188419																																			CHM	SO:0001589	frameshift_variant	0				HGNC	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.781_782delAC	X.37:g.85213903_85213904delGT	ENSP00000350386:p.Thr261fs	Somatic	0	73	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	A1L4D2|O43732	Frame_Shift_Del	DEL							pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.T261fs	ENST00000357749.2	37	c.782_781	CCDS14454.1	X																																																																																			-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk		0.347	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	protein_coding	OTTHUMT00000057396.3	GT	NM_000390			85213904	-1	no_errors	ENST00000357749	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-	-	85213904	GT	-	85213903	7	5	234	1	0	1	0	1	0	0	0	0	3352	1261	44	0	1219	0	CHM	23	85213903	Frame_Shift_Del	DEL	GT	TCGA-X6-A8C2-01A-11D-A36J-09		85213903	70056657	128	19016											
AMOT	154796	genome.wustl.edu	37	chrX	112058737	112058737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataagaagcagaggatggcTgagcccgaggcatagctgaa	15	7	0	4			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chrX:112058737T>C	ENST00000524145.1	-	3	1315	c.1241A>G	c.(1240-1242)cAg>cGg	p.Q414R	AMOT_ENST00000304758.1_Missense_Mutation_p.Q5R|AMOT_ENST00000371959.3_Missense_Mutation_p.Q414R|AMOT_ENST00000371958.1_Missense_Mutation_p.Q182R|AMOT_ENST00000371962.1_Missense_Mutation_p.Q182R			Q4VCS5	AMOT_HUMAN	angiomotin	414					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)			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						AGAGGATGGCTGAGCCCGAGG	0.562																																																	0								ENSG00000126016						103	90	95					X																	112058737		2203	4300	6503	AMOT	SO:0001583	missense	0			-	HGNC	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.1241A>G	X.37:g.112058737T>C	ENSP00000429013:p.Gln414Arg	Somatic	0	29	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP							pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.Q414R	ENST00000524145.1	37	c.1241	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937804	0.34189	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.18960	2.18;2.59;2.59;2.59;2.59	5.45	5.45	0.79879	.	0.331472	0.33253	N	0.005116	T	0.19087	0.0458	L	0.43152	1.355	0.30394	N	0.780733	B	0.15473	0.013	B	0.12837	0.008	T	0.08868	-1.0701	10	0.62326	D	0.03	-14.1089	9.8875	0.41270	0.0:0.0:0.1687:0.8313	.	414	Q4VCS5	AMOT_HUMAN	R	5;414;182;414;182	ENSP00000305557:Q5R;ENSP00000361027:Q414R;ENSP00000361030:Q182R;ENSP00000429013:Q414R;ENSP00000361026:Q182R	ENSP00000305557:Q5R	Q	-	2	0	AMOT	111945393	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.474000	0.45154	2.018000	0.59344	0.486000	0.48141	CAG	-	NULL		0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	T	NM_133265	-		112058737	-1	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	SNP	1.000	C	C	112058737	T	C	112058737	3	2	234	1	0	0	0	0	1	0	0	0	582	1580	55	5	2053	5	AMOT	23	112058737	Missense_Mutation	SNP	T	TCGA-X6-A8C2-01A-11D-A36J-09	26844834	112058737	43211823	129	19017											
UTP14A	10813	genome.wustl.edu	37	chrX	129054466	129054466	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaagaaaggaaaggccaaGaaagccctaaaagagtttga	12	5	0	5			TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chrX:129054466G>T	ENST00000394422.3	+	9	814	c.786G>T	c.(784-786)aaG>aaT	p.K262N	UTP14A_ENST00000425117.2_Missense_Mutation_p.K210N|UTP14A_ENST00000371051.5_Missense_Mutation_p.K208N|UTP14A_ENST00000371042.3_Missense_Mutation_p.K94N|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	262					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GAAAGGCCAAGAAAGCCCTAA	0.463																																																	0								ENSG00000156697						126	123	124					X																	129054466		2203	4300	6503	UTP14A	SO:0001583	missense	0			-	HGNC	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.786G>T	X.37:g.129054466G>T	ENSP00000377944:p.Lys262Asn	Somatic	0	66	0		0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP							pfam_SSU_processome_Utp14	p.K262N	ENST00000394422.3	37	c.786	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682861	0.47991	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	M	0.88310	2.945	0.53005	D	0.999969	P;P;P	0.51240	0.943;0.909;0.89	P;P;P	0.56751	0.629;0.805;0.745	T	0.58544	-0.7618	10	0.72032	D	0.01	-19.3386	6.5764	0.22569	0.1642:0.2018:0.634:0.0	.	208;210;262	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	N	210;262;208;94;94	ENSP00000388669:K210N;ENSP00000377944:K262N;ENSP00000360090:K208N;ENSP00000413187:K94N;ENSP00000360081:K94N	ENSP00000360081:K94N	K	+	3	2	UTP14A	128882147	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	1.348000	0.33987	1.356000	0.45884	0.600000	0.82982	AAG	-	pfam_SSU_processome_Utp14		0.463	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	protein_coding	OTTHUMT00000058221.1	G	NM_006649	-		129054466	1	no_errors	ENST00000394422	ensembl	human	known	74_37	missense	SNP	1.000	T	T	129054466	G	T	129054466	3	4	234	1	0	0	0	0	1	0	0	0	17102	933	33	3	820	3	UTP14A	23	129054466	Missense_Mutation	SNP	G	TCGA-X6-A8C2-01A-11D-A36J-09	16995729	129054466	26216094	130	19018											
UTP14A	10813	genome.wustl.edu	37	chrX	129060008	129060008	+	Frame_Shift_Del	DEL	A	A	-													gctgtggaggcgagtaagccAaaggacgtggacctgacact							TCGA-X6-A8C2-01A-11D-A36J-09	TCGA-X6-A8C2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9802b37-e213-4a7a-afcd-5822502fb968	18d5c618-c91c-4714-9683-ec3098cb28bd	g.chrX:129060008delA	ENST00000394422.3	+	13	1891	c.1863delA	c.(1861-1863)ccafs	p.P621fs	UTP14A_ENST00000425117.2_Frame_Shift_Del_p.P569fs|UTP14A_ENST00000371051.5_Frame_Shift_Del_p.P567fs|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.P453fs|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	621					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CGAGTAAGCCAAAGGACGTGG	0.517											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000156697						56	56	56					X																	129060008		2202	4280	6482	UTP14A	SO:0001589	frameshift_variant	0				HGNC	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1863delA	X.37:g.129060008delA	ENSP00000377944:p.Pro621fs	Somatic	0	62	0	1569	0.596434852852131				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Frame_Shift_Del	DEL							pfam_SSU_processome_Utp14	p.K622fs	ENST00000394422.3	37	c.1863	CCDS14615.1	X																																																																																			-	pfam_SSU_processome_Utp14		0.517	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	protein_coding	OTTHUMT00000058221.1	A	NM_006649			129060008	1	no_errors	ENST00000394422	ensembl	human	known	74_37	frame_shift_del	DEL	0.105	-	-	129060008	A	-	129060008	7	5	234	1	0	1	0	1	0	0	0	0	17102	117	5	0	1913	0	UTP14A	23	129060008	Frame_Shift_Del	DEL	A	TCGA-X6-A8C2-01A-11D-A36J-09	5542	129060008	26210552	131	19019											
PTPRF	5792	genome.wustl.edu	37	chr1	44054430	44054430	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggctcctcgtttctccatCcctcccagcagccaggaggt	10	16	1	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:44054430C>T	ENST00000359947.4	+	8	1048	c.708C>T	c.(706-708)atC>atT	p.I236I	PTPRF_ENST00000438120.1_Silent_p.I236I|PTPRF_ENST00000372414.3_Silent_p.I236I|PTPRF_ENST00000372413.3_Silent_p.I236I|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	236	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTTCTCCATCCCTCCCAGCA	0.667																																																	0								ENSG00000142949						56	49	51					1																	44054430		2203	4300	6503	PTPRF	SO:0001819	synonymous_variant	0			-	HGNC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.708C>T	1.37:g.44054430C>T		Somatic	0	21	0		0.521819055958222	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP							pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.I236	ENST00000359947.4	37	c.708	CCDS489.2	1																																																																																			-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.667	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	protein_coding	OTTHUMT00000019710.1	C		-		44054430	1	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	SNP	1.000	T	T	44054430	C	T	44054430	2	4	235	1	0	0	0	0	0	0	0	1	12809	845	30	2		2	PTPRF	1	44054430	Silent	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09		44054430	205196191	1	19020											
C8B	732	genome.wustl.edu	37	chr1	57425757	57425757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacagctcacaatcaatgGgcatcagggtaacatccaca	8	11	3	1	rs151070962		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:57425757G>A	ENST00000371237.4	-	2	251	c.185C>T	c.(184-186)cCc>cTc	p.P62L	C8B_ENST00000543257.1_Missense_Mutation_p.P10L|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	62					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAATCAATGGGCATCAGGGT	0.493																																																	0								ENSG00000021852	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	173	141	152		185	4	1	1	dbSNP_134	152	0,8600		0,0,4300	no	missense	C8B	NM_000066.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	62/592	57425757	1,13005	2203	4300	6503	C8B	SO:0001583	missense	0			-	HGNC	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.185C>T	1.37:g.57425757G>A	ENSP00000360281:p.Pro62Leu	Somatic	0	65	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	46	30.88	A1L4K7	Missense_Mutation	SNP							pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.P62L	ENST00000371237.4	37	c.185	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180949	0.57800	2.27E-4	0.0	ENSG00000021852	ENST00000371237;ENST00000543257	T;T	0.35048	1.33;1.4	4.92	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.946	T	0.63462	-0.6632	10	0.87932	D	0	-8.1555	8.8935	0.35449	0.0817:0.0:0.7704:0.1479	.	10;62	F5H7G1;P07358	.;CO8B_HUMAN	L	62;10	ENSP00000360281:P62L;ENSP00000442548:P10L	ENSP00000360281:P62L	P	-	2	0	C8B	57198345	1.000000	0.71417	0.975000	0.42487	0.453000	0.32348	4.251000	0.58778	1.408000	0.46895	0.563000	0.77884	CCC	-	superfamily_Thrombospondin_1_rpt		0.493	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	protein_coding	OTTHUMT00000022886.2	G		rs151070962		57425757	-1	no_errors	ENST00000371237	ensembl	human	known	74_37	missense	SNP	0.983	A	A	57425757	G	A	57425757	3	1	235	1	0	0	0	0	1	0	0	0	2419	1232	43	2	1634	2	C8B	1	57425757	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	13371327	57425757	191824864	2	19021											
LRRC8C	84230	genome.wustl.edu	37	chr1	90180397	90180397	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatttgctatttctttcctaCttagatgtaaaaggtaatca	5	6	2	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:90180397C>G	ENST00000370454.4	+	3	2523	c.2268C>G	c.(2266-2268)taC>taG	p.Y756*	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	756					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTCTTTCCTACTTAGATGTAA	0.393																																																	0								ENSG00000171488						80	82	81					1																	90180397		2203	4300	6503	LRRC8C	SO:0001587	stop_gained	0			-	HGNC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2268C>G	1.37:g.90180397C>G	ENSP00000359483:p.Tyr756*	Somatic	0	42	0		0.521819055958222	44	30.16	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	B3KXS9|Q29RV6|Q9H075	Nonsense_Mutation	SNP							pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y756*	ENST00000370454.4	37	c.2268	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.149310	0.97324	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.87	-2.66	0.06077	.	0.307495	0.36703	N	0.002450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.468	0.55771	0.0:0.4346:0.0:0.5654	.	.	.	.	X	756	.	ENSP00000359483:Y756X	Y	+	3	2	LRRC8C	89952985	0.055000	0.20627	0.977000	0.42913	0.925000	0.55904	-0.588000	0.05774	-0.409000	0.07553	0.655000	0.94253	TAC	-	smart_Leu-rich_rpt_typical-subtyp		0.393	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	protein_coding	OTTHUMT00000028435.2	C	NM_032270	-		90180397	1	no_errors	ENST00000370454	ensembl	human	known	74_37	nonsense	SNP	0.969	G	G	90180397	C	G	90180397	4	3	235	1	0	0	0	0	0	1	0	0	9025	576	20	4	2274	4	LRRC8C	1	90180397	Nonsense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	32754640	90180397	159070224	3	19022											
IGSF3	3321	genome.wustl.edu	37	chr1	117146496	117146496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtctagccacatgatattGctgcggcggttctgcctgtc	12	12	2	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:117146496G>T	ENST00000369486.3	-	6	2139	c.1374C>A	c.(1372-1374)agC>agA	p.S458R	IGSF3_ENST00000318837.6_Missense_Mutation_p.S478R|IGSF3_ENST00000369483.1_Missense_Mutation_p.S478R	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	458	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACATGATATTGCTGCGGCGGT	0.652																																																	0								ENSG00000143061						70	68	68					1																	117146496		2202	4299	6501	IGSF3	SO:0001583	missense	0			-	HGNC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1374C>A	1.37:g.117146496G>T	ENSP00000358498:p.Ser458Arg	Somatic	0	82	0		0.521819055958222	13	31.58	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	65	24.42	A6NJZ6|A6NMC7	Missense_Mutation	SNP							pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S478R	ENST00000369486.3	37	c.1434	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854894	0.32791	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	5.27	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.241069	0.45606	D	0.000356	T	0.21718	0.0523	L	0.27053	0.805	0.38126	D	0.937994	B;P;B	0.38827	0.087;0.649;0.106	B;B;B	0.36030	0.113;0.216;0.18	T	0.07501	-1.0769	10	0.12430	T	0.62	-37.3051	4.4564	0.11645	0.2008:0.1865:0.6127:0.0	.	478;458;478	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	R	458;478;478	ENSP00000358498:S458R;ENSP00000358495:S478R;ENSP00000321184:S478R	ENSP00000321184:S478R	S	-	3	2	IGSF3	116948019	0.898000	0.30612	1.000000	0.80357	0.989000	0.77384	0.041000	0.13927	1.460000	0.47911	0.557000	0.71058	AGC	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.652	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	protein_coding	OTTHUMT00000059040.1	G	NM_001542	-		117146496	-1	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117146496	G	T	117146496	3	4	235	1	0	0	0	0	1	0	0	0	7603	1310	46	3	2234	3	IGSF3	1	117146496	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	26966099	117146496	132104125	4	19023											
METTL13	51603	genome.wustl.edu	37	chr1	171753532	171753532	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccaggctggggagtgtgtCtctggacttgtgcgatgggg	20	7	1	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:171753532C>T	ENST00000361735.3	+	2	1072	c.806C>T	c.(805-807)tCt>tTt	p.S269F	METTL13_ENST00000362019.3_Missense_Mutation_p.S183F|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Missense_Mutation_p.S268F	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	269							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGAGTGTGTCTCTGGACTTG	0.647																																																	0								ENSG00000010165						22	21	21					1																	171753532		2199	4298	6497	METTL13	SO:0001583	missense	0			-	HGNC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.806C>T	1.37:g.171753532C>T	ENSP00000354920:p.Ser269Phe	Somatic	0	51	0		0.521819055958222	40	20	10	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP							pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.S269F	ENST00000361735.3	37	c.806	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439719	0.83885	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T	0.35236	2.08;1.32;2.08;2.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.62209	1.925	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.63597	0.864;0.916	T	0.23226	-1.0194	10	0.29301	T	0.29	-46.9349	18.6211	0.91321	0.0:1.0:0.0:0.0	.	268;269	B4E2X3;Q8N6R0	.;MTL13_HUMAN	F	268;183;269;186;183	ENSP00000401955:S268F;ENSP00000355393:S183F;ENSP00000354920:S269F;ENSP00000356710:S186F	ENSP00000341732:S183F	S	+	2	0	METTL13	170020155	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	4.260000	0.58835	2.465000	0.83290	0.655000	0.94253	TCT	-	NULL		0.647	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	protein_coding	OTTHUMT00000084528.5	C	NM_014955	-		171753532	1	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	SNP	1.000	T	T	171753532	C	T	171753532	3	4	235	1	0	0	0	0	1	0	0	0	9499	913	32	2	812	2	METTL13	1	171753532	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	54607036	171753532	77497089	5	19024											
ACBD6	84320	genome.wustl.edu	37	chr1	180471380	180471380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccggtgatggcccccgCgggcaggaatgatgaagcca	16	12	0	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:180471380C>T	ENST00000367595.3	-	1	709	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	8						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						ATGGCCCCCGCGGGCAGGAAT	0.647																																																	0								ENSG00000135847						29	33	31					1																	180471380		2203	4300	6503	ACBD6	SO:0001583	missense	0			-	HGNC	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"Ankyrin repeat domain containing"	23339	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 6"			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.22G>A	1.37:g.180471380C>T	ENSP00000356567:p.Ala8Thr	Somatic	0	42	0		0.521819055958222	53	26.39	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Missense_Mutation	SNP							pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt	p.A8T	ENST00000367595.3	37	c.22	CCDS1339.1	1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757146	0.31137	.	.	ENSG00000135847	ENST00000367595	T	0.48836	0.8	4.79	-7.3	0.01446	.	0.501140	0.21459	N	0.074185	T	0.18045	0.0433	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06267	-1.0836	10	0.26408	T	0.33	1.2834	3.0108	0.06044	0.3694:0.3812:0.0854:0.164	.	8	Q9BR61	ACBD6_HUMAN	T	8	ENSP00000356567:A8T	ENSP00000356567:A8T	A	-	1	0	ACBD6	178738003	0.006000	0.16342	0.275000	0.24674	0.759000	0.43091	-0.766000	0.04725	-0.904000	0.03876	0.313000	0.20887	GCG	-	NULL		0.647	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD6	protein_coding	OTTHUMT00000084998.1	C	NM_032360	-		180471380	-1	no_errors	ENST00000367595	ensembl	human	known	74_37	missense	SNP	0.002	T	T	180471380	C	T	180471380	3	4	235	1	0	0	0	0	1	0	0	0	126	768	27	1	858	1	ACBD6	1	180471380	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	8717848	180471380	68779241	6	19025											
B3GALNT2	148789	genome.wustl.edu	37	chr1	235643459	235643459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagcgagcaatgaagaGggcctcctacaaattgggag	13	8	0	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:235643459G>A	ENST00000366600.3	-	5	790	c.562C>T	c.(562-564)Ctc>Ttc	p.L188F	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.L229F	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	188					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GCAATGAAGAGGGCCTCCTAC	0.428																																																	0								ENSG00000162885						84	77	80					1																	235643459		2203	4300	6503	B3GALNT2	SO:0001583	missense	0			-	HGNC	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.562C>T	1.37:g.235643459G>A	ENSP00000355559:p.Leu188Phe	Somatic	0	77	0		0.521819055958222	14	36.36	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	75	27.18	Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP							pfam_Glyco_trans_31	p.L188F	ENST00000366600.3	37	c.562	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468240	0.84533	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	T;T	0.64991	-0.13;1.04	6.02	6.02	0.97574	.	0.055808	0.64402	D	0.000001	T	0.79747	0.4499	M	0.77616	2.38	0.41763	D	0.989729	D;D	0.76494	0.999;0.975	D;P	0.72982	0.979;0.721	T	0.81013	-0.1125	10	0.66056	D	0.02	-21.7582	16.763	0.85517	0.0:0.0:0.8705:0.1295	.	229;188	Q8NCR0-2;Q8NCR0	.;B3GL2_HUMAN	F	229;188;229	ENSP00000355559:L188F;ENSP00000315678:L229F	ENSP00000315678:L229F	L	-	1	0	B3GALNT2	233710082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.222000	0.51223	2.850000	0.98022	0.650000	0.86243	CTC	-	NULL		0.428	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALNT2	protein_coding	OTTHUMT00000097376.1	G	NM_152490	-		235643459	-1	no_errors	ENST00000366600	ensembl	human	known	74_37	missense	SNP	1.000	A	A	235643459	G	A	235643459	3	1	235	1	0	0	0	0	1	0	0	0	1246	1000	35	2	972	2	B3GALNT2	1	235643459	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	55172079	235643459	13607162	7	19026											
EML4	27436	genome.wustl.edu	37	chr2	42522363	42522363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttcttctggacctggagCggcaattcactaacaagaaa	8	9	3	1	rs201724206		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr2:42522363C>T	ENST00000318522.5	+	12	1579	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	EML4_ENST00000402711.2_Silent_p.S381S|EML4_ENST00000401738.3_Silent_p.S450S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	439					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGACCTGGAGCGGCAATTCAC	0.333			T	ALK	NSCLC								C|||	1	0.000199681	8e-04	0	5008	,	,		18251	0		0	False		,,,				2504	0							Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0								ENSG00000143924						101	103	103					2																	42522363		2203	4300	6503	EML4	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1317C>T	2.37:g.42522363C>T		Somatic	0	95	0		0.521819055958222	47	41.98	34	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	45	32.35	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP							pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S439	ENST00000318522.5	37	c.1317	CCDS1807.1	2																																																																																			-	superfamily_Quinonprotein_ADH-like_supfam		0.333	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	protein_coding	OTTHUMT00000250463.3	C	NM_019063	rs201724206		42522363	1	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	SNP	1.000	T	T	42522363	C	T	42522363	2	4	235	1	0	0	0	0	0	0	0	1	5101	767	27	1		1	EML4	2	42522363	Silent	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09		42522363	200677010	8	19027											
CNTNAP5	129684	genome.wustl.edu	37	chr2	124999855	124999855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaacagagtagagattaCagcagtggccacgcagggaa	15	7	0	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr2:124999855C>T	ENST00000431078.1	+	3	630	c.266C>T	c.(265-267)aCa>aTa	p.T89I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	89	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)		GTAGAGATTACAGCAGTGGCC	0.522																																																	0								ENSG00000155052						67	71	70					2																	124999855		2046	4190	6236	CNTNAP5	SO:0001583	missense	0			-	HGNC	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.266C>T	2.37:g.124999855C>T	ENSP00000399013:p.Thr89Ile	Somatic	0	97	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	61	59	50.41	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T89I	ENST00000431078.1	37	c.266	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390218	0.82902	.	.	ENSG00000155052	ENST00000431078	D	0.98567	-5.0	5.71	5.71	0.89125	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.246954	0.28549	N	0.014958	D	0.97999	0.9341	M	0.91768	3.24	0.48395	D	0.999647	B	0.27910	0.193	B	0.30646	0.118	D	0.96828	0.9609	10	0.72032	D	0.01	.	12.1234	0.53903	0.0:0.9134:0.0:0.0866	.	89	Q8WYK1	CNTP5_HUMAN	I	89	ENSP00000399013:T89I	ENSP00000399013:T89I	T	+	2	0	CNTNAP5	124716325	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	4.799000	0.62517	2.696000	0.92011	0.650000	0.86243	ACA	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	C		-		124999855	1	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	SNP	0.997	T	T	124999855	C	T	124999855	3	4	235	1	0	0	0	0	1	0	0	0	3652	478	17	2	276	2	CNTNAP5	2	124999855	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	82477492	124999855	118199518	9	19028											
CHDH	55349	genome.wustl.edu	37	chr3	53857739	53857739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagttgtacctgtcgtcGcacaggttggccaccagggc	12	14	0	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr3:53857739G>A	ENST00000315251.6	-	3	734	c.297C>T	c.(295-297)tgC>tgT	p.C99C		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	99					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCTGTCGTCGCACAGGTTGG	0.697																																																	0								ENSG00000016391						10	13	12					3																	53857739		2091	4085	6176	CHDH	SO:0001819	synonymous_variant	0			-	HGNC	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.297C>T	3.37:g.53857739G>A		Somatic	0	62	0		0.521819055958222	1	66.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q9NY17	Silent	SNP							pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.C99	ENST00000315251.6	37	c.297	CCDS2873.1	3																																																																																			-	pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase		0.697	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	protein_coding	OTTHUMT00000350567.2	G	NM_018397	-		53857739	-1	no_errors	ENST00000315251	ensembl	human	known	74_37	silent	SNP	0.710	A	A	53857739	G	A	53857739	2	1	235	1	0	0	0	0	0	0	0	1	3335	1079	38	1		1	CHDH	3	53857739	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		53857739	144164691	10	19029											
AASDH	132949	genome.wustl.edu	37	chr4	57244546	57244546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcacctcagtatttttccAgtgaagtctgaagagcacta	8	9	3	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:57244546A>G	ENST00000205214.6	-	4	616	c.436T>C	c.(436-438)Tgg>Cgg	p.W146R	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.W46R|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.W146R|AASDH_ENST00000451613.1_Missense_Mutation_p.W146R	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	146					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTATTTTTCCAGTGAAGTCTG	0.313																																																	0								ENSG00000157426						83	80	81					4																	57244546		2203	4299	6502	AASDH	SO:0001583	missense	0			-	HGNC	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.436T>C	4.37:g.57244546A>G	ENSP00000205214:p.Trp146Arg	Somatic	0	39	0		0.521819055958222	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.W146R	ENST00000205214.6	37	c.436	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.949431	0.00475	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000502617	T;T;T;T	0.62941	-0.01;0.11;2.9;0.58	5.95	4.74	0.60224	AMP-dependent synthetase/ligase (1);	0.234254	0.35903	N	0.002917	T	0.39860	0.1094	N	0.25332	0.735	0.20403	N	0.999905	B;B;B	0.25351	0.124;0.124;0.007	B;B;B	0.20767	0.031;0.031;0.008	T	0.18398	-1.0338	10	0.14252	T	0.57	-3.8543	2.9397	0.05826	0.6283:0.1511:0.0763:0.1443	.	146;146;146	Q4L235-4;Q4L235-3;Q4L235	.;.;ACSF4_HUMAN	R	146;46;146;146	ENSP00000205214:W146R;ENSP00000423760:W46R;ENSP00000409656:W146R;ENSP00000421171:W146R	ENSP00000205214:W146R	W	-	1	0	AASDH	56939303	0.129000	0.22400	0.903000	0.35520	0.242000	0.25591	2.701000	0.47094	1.039000	0.40074	0.533000	0.62120	TGG	-	pfam_AMP-dep_Synth/Lig		0.313	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	protein_coding	OTTHUMT00000250780.1	A	NM_181806	-		57244546	-1	no_errors	ENST00000205214	ensembl	human	known	74_37	missense	SNP	0.462	G	G	57244546	A	G	57244546	3	3	235	1	0	0	0	0	1	0	0	0	22	188	7	5	2908	5	AASDH	4	57244546	Missense_Mutation	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09		57244546	133909730	11	19030											
HOPX	84525	genome.wustl.edu	37	chr4	57514964	57514964	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcgctgcttaaaccatttCtggaagagagaaatgagaaa	11	6	1	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:57514964C>A	ENST00000337881.7	-	3	801		c.e3-1		HOPX_ENST00000556376.2_Splice_Site|HOPX_ENST00000381255.3_Splice_Site|HOPX_ENST00000420433.1_Splice_Site|HOPX_ENST00000554144.1_Splice_Site|HOPX_ENST00000317745.7_Splice_Site|HOPX_ENST00000556614.2_Splice_Site|HOPX_ENST00000555760.2_Splice_Site|HOPX_ENST00000381260.3_Splice_Site|HOPX_ENST00000553379.2_Splice_Site|HOPX_ENST00000508121.1_Splice_Site|HOPX_ENST00000503639.3_Splice_Site	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					TAAACCATTTCTGGAAGAGAG	0.483																																																	0								ENSG00000171476						57	58	58					4																	57514964		2203	4300	6503	HOPX	SO:0001630	splice_region_variant	0			-	HGNC		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.145-1G>T	4.37:g.57514964C>A		Somatic	0	35	0		0.521819055958222	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Splice_Site	SNP							-	e4-1	ENST00000337881.7	37	c.329-1	CCDS3507.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296761	0.81025	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381260;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000503864;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000509435;ENST00000514890;ENST00000506661	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8335	0.78778	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOPX	57209721	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.708000	0.68377	2.818000	0.97014	0.591000	0.81541	.	-	-		0.483	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	protein_coding	OTTHUMT00000250689.4	C		-	Intron	57514964	-1	no_errors	ENST00000554144	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	57514964	C	A	57514964	5	1	235	1	0	0	0	0	0	0	1	0	7287	927	32	3	81	3	HOPX	4	57514964	Splice_Site	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	270418	57514964	133639312	12	19031											
BDH2	56898	genome.wustl.edu	37	chr4	104003299	104003299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagttgcgaatcttcccGtcttttgtctcttcaggaaa	8	11	4	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:104003299G>T	ENST00000296424.4	-	9	743	c.623C>A	c.(622-624)aCg>aAg	p.T208K		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	208					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.T208M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GAATCTTCCCGTCTTTTGTCT	0.453																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000164039						137	120	126					4																	104003299		2203	4300	6503	BDH2	SO:0001583	missense	0			-	HGNC	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.623C>A	4.37:g.104003299G>T	ENSP00000296424:p.Thr208Lys	Somatic	0	61	0		0.521819055958222	42	45.45	35	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	31	51.56	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP							pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.T208K	ENST00000296424.4	37	c.623	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777518	0.49786	.	.	ENSG00000164039	ENST00000296424	T	0.42513	0.97	5.03	3.31	0.37934	NAD(P)-binding domain (1);	0.093880	0.64402	D	0.000001	T	0.31575	0.0801	L	0.38733	1.17	0.46586	D	0.999118	B	0.28783	0.222	B	0.22152	0.038	T	0.13202	-1.0518	10	0.87932	D	0	.	10.9321	0.47224	0.1567:0.0:0.8433:0.0	.	208	Q9BUT1	BDH2_HUMAN	K	208	ENSP00000296424:T208K	ENSP00000296424:T208K	T	-	2	0	BDH2	104222748	0.995000	0.38212	0.787000	0.31911	0.842000	0.47809	2.227000	0.42972	0.635000	0.30488	-0.137000	0.14449	ACG	-	prints_Glc/ribitol_DH		0.453	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	protein_coding	OTTHUMT00000157159.2	G	NM_020139	-		104003299	-1	no_errors	ENST00000296424	ensembl	human	known	74_37	missense	SNP	0.949	T	T	104003299	G	T	104003299	3	4	235	1	0	0	0	0	1	0	0	0	1391	1145	40	3	122	3	BDH2	4	104003299	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	46488335	104003299	87150977	13	19032											
ALPK1	80216	genome.wustl.edu	37	chr4	113303659	113303659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagccgtgggcccagaggAcaaaacaaacctgaaggatg	12	10	0	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:113303659A>G	ENST00000458497.1	+	4	506	c.227A>G	c.(226-228)gAc>gGc	p.D76G	ALPK1_ENST00000177648.9_Missense_Mutation_p.D76G|ALPK1_ENST00000504176.2_Intron	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	76							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGCCCAGAGGACAAAACAAAC	0.537																																																	0								ENSG00000073331						89	74	79					4																	113303659		2203	4300	6503	ALPK1	SO:0001583	missense	0			-	HGNC	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.227A>G	4.37:g.113303659A>G	ENSP00000398048:p.Asp76Gly	Somatic	0	109	0		0.521819055958222	12	14.29	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	108	12.20	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP							pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D76G	ENST00000458497.1	37	c.227	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433128	0.83776	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.61768	-0.6995	10	0.87932	D	0	-27.5908	15.839	0.78831	1.0:0.0:0.0:0.0	.	51;76;76	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	G	76;76;51	ENSP00000398048:D76G;ENSP00000177648:D76G	ENSP00000177648:D76G	D	+	2	0	ALPK1	113523108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.406000	0.90216	2.130000	0.65690	0.533000	0.62120	GAC	-	NULL		0.537	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	protein_coding	OTTHUMT00000256421.2	A	NM_025144	-		113303659	1	no_errors	ENST00000177648	ensembl	human	known	74_37	missense	SNP	1.000	G	G	113303659	A	G	113303659	3	3	235	1	0	0	0	0	1	0	0	0	544	275	10	5	233	5	ALPK1	4	113303659	Missense_Mutation	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	9300360	113303659	77850617	14	19033											
ODZ3	55714	genome.wustl.edu	37	chr4	183714357	183714357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccttcgctatgacctgCgagacagaatcactcgactg	8	15	1	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:183714357C>T	ENST00000511685.1	+	26	6655	c.6532C>T	c.(6532-6534)Cga>Tga	p.R2178*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R2178*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2178					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)										CTATGACCTGCGAGACAGAAT	0.468																																																	0								ENSG00000218336						113	111	112					4																	183714357		1994	4175	6169	TENM3	SO:0001587	stop_gained	0			-	HGNC	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.6532C>T	4.37:g.183714357C>T	ENSP00000424226:p.Arg2178*	Somatic	0	52	0		0.521819055958222	40	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP							pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R2178*	ENST00000511685.1	37	c.6532	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.305584	0.99544	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	4.75	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3578	0.43975	0.3932:0.6068:0.0:0.0	.	.	.	.	X	2178	.	ENSP00000385276:R2178X	R	+	1	2	ODZ3	183951351	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	0.882000	0.28186	2.460000	0.83146	0.455000	0.32223	CGA	-	superfamily_Cyt_c-like_dom		0.468	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	C		-		183714357	1	no_errors	ENST00000406950	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	183714357	C	T	183714357	4	4	235	1	0	0	0	0	0	1	0	0	10838	760	27	1	6630	1	ODZ3	4	183714357	Nonsense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	70410698	183714357	7439919	15	19034											
COL4A3BP	10087	genome.wustl.edu	37	chr5	74696029	74696029	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaactctgacattagcttaCcttttggacaaatctatgtg	6	8	2	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr5:74696029C>A	ENST00000405807.4	-	10	1532		c.e10+1		COL4A3BP_ENST00000380494.5_Splice_Site|COL4A3BP_ENST00000261415.7_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATTAGCTTACCTTTTGGACA	0.398																																																	0								ENSG00000113163						105	101	102					5																	74696029		2203	4300	6503	COL4A3BP	SO:0001630	splice_region_variant	0			-	HGNC	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1110+1G>T	5.37:g.74696029C>A		Somatic	0	139	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	71	12.20	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	SNP							-	e11+1	ENST00000405807.4	37	c.1494+1	CCDS4028.1	5	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733506	0.89482	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.134	0.93418	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A3BP	74731785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.529000	0.73812	2.531000	0.85337	0.650000	0.86243	.	-	-		0.398	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	protein_coding	OTTHUMT00000219875.2	C	NM_005713	-	Intron	74696029	-1	no_errors	ENST00000380494	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	74696029	C	A	74696029	5	1	235	1	0	0	0	0	0	0	1	0	3694	521	18	3	795	3	COL4A3BP	5	74696029	Splice_Site	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09		74696029	106219231	16	19035											
GPR98	84059	genome.wustl.edu	37	chr5	90050957	90050957	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caagaaacaataataataatGaaagaaaacataaaagaagc	5	4	0	4			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr5:90050957G>C	ENST00000405460.2	+	55	11631	c.11535G>C	c.(11533-11535)atG>atC	p.M3845I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3845	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				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)			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)		TAATAATAATGAAAGAAAACA	0.343																																																	0								ENSG00000164199						59	59	59					5																	90050957		1835	4080	5915	GPR98	SO:0001583	missense	0			-	HGNC	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.11535G>C	5.37:g.90050957G>C	ENSP00000384582:p.Met3845Ile	Somatic	0	40	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP							pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.M3845I	ENST00000405460.2	37	c.11535	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.391734|2.391734	0.42410|0.42410	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.32023|.	1.47|.	5.73|5.73	4.84|4.84	0.62591|0.62591	.|.	0.311043|.	0.46442|.	N|.	0.000289|.	T|.	0.71702|.	0.3371|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;B|.	0.14012|.	0.009;0.001|.	B;B|.	0.10450|.	0.005;0.001|.	T|.	0.71533|.	-0.4564|.	10|.	0.49607|.	T|.	0.09|.	.|.	14.935|14.935	0.70948|0.70948	0.0:0.1427:0.8573:0.0|0.0:0.1427:0.8573:0.0	.|.	3845;3845|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	I|S	3845|1411	ENSP00000384582:M3845I|.	ENSP00000296619:M3845I|.	M|X	+|+	3|2	0|2	GPR98|GPR98	90086713|90086713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	3.944000|3.944000	0.56629|0.56629	1.393000|1.393000	0.46605|0.46605	0.655000|0.655000	0.94253|0.94253	ATG|TGA	-	NULL		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119	-		90050957	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	SNP	1.000	C	C	90050957	G	C	90050957	3	2	235	1	0	0	0	0	1	0	0	0	6723	1290	45	4	11753	4	GPR98	5	90050957	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	15354928	90050957	90864303	17	19036											
LOC153328	153328	genome.wustl.edu	37	chr5	135188287	135188287	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagggcatgtccttccccctCgccagcattgccgtctacaa	8	16	1	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr5:135188287C>T	ENST00000420621.1	+	4	370	c.198C>T	c.(196-198)ctC>ctT	p.L66L	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Silent_p.L12L|SLC25A48_ENST00000412661.2_Silent_p.L66L|SLC25A48_ENST00000274513.5_Silent_p.L66L			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	66					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTTCCCCCTCGCCAGCATTG	0.622																																																	0								ENSG00000145832						129	138	135					5																	135188287		2035	4193	6228	SLC25A48	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"Solute carriers"	30451	protein-coding gene	gene with protein product	"HCC-down-regulated mitochondrial carrier protein"					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.198C>T	5.37:g.135188287C>T		Somatic	0	39	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	32	23.81	Q8TAV9	Missense_Mutation	SNP							NULL	p.R53C	ENST00000420621.1	37	c.157		5																																																																																			-	NULL		0.622	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	protein_coding		C	NM_145282	-		135188287	1	no_errors	ENST00000462340	ensembl	human	known	74_37	missense	SNP	0.582	T	T	135188287	C	T	135188287	2	4	235	1	0	0	0	0	0	0	0	1	8873	871	31	1		1	LOC153328	5	135188287	Silent	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	45137330	135188287	45726973	18	19037											
LY6G6C	80740	genome.wustl.edu	37	chr6	31686906	31686906	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggccaaggccagccaaGgaggtaaggaagacaaggcc	15	10	0	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:31686906G>T	ENST00000375819.2	-	3	510	c.345C>A	c.(343-345)tcC>tcA	p.S115S	LY6G6C_ENST00000495859.1_Silent_p.S59S	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	115						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGCCAGCCAAGGAGGTAAGGA	0.607																																																	0								ENSG00000204421						95	85	88					6																	31686906		2203	4300	6503	LY6G6C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.345C>A	6.37:g.31686906G>T		Somatic	0	33	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q5SRS8|Q8IY94	Silent	SNP							NULL	p.S115	ENST00000375819.2	37	c.345	CCDS4714.1	6																																																																																			-	NULL		0.607	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6C	protein_coding	OTTHUMT00000076530.2	G		-		31686906	-1	no_errors	ENST00000375819	ensembl	human	known	74_37	silent	SNP	0.931	T	T	31686906	G	T	31686906	2	4	235	1	0	0	0	0	0	0	0	1	9096	987	35	3		3	LY6G6C	6	31686906	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		31686906	139428161	19	19038											
PSMB9	5698	genome.wustl.edu	37	chr6	32823978	32823978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctgattcccgagtgtctGcagggtgagtaaaagtgaag	14	6	2	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:32823978G>T	ENST00000374859.2	+	2	193	c.124G>T	c.(124-126)Gca>Tca	p.A42S	PSMB9_ENST00000395330.1_Missense_Mutation_p.A19S|PSMB9_ENST00000453265.2_Missense_Mutation_p.A42S|TAP1_ENST00000354258.4_5'Flank	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	42					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	CCGAGTGTCTGCAGGGTGAGT	0.468																																																	0								ENSG00000240065						178	147	158					6																	32823978		1511	2709	4220	PSMB9	SO:0001583	missense	0			-	HGNC		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"Proteasome (prosome, macropain) subunits"	9546	protein-coding gene	gene with protein product		177045	"proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)", "large multifunctional peptidase 2"	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.124G>T	6.37:g.32823978G>T	ENSP00000363993:p.Ala42Ser	Somatic	0	127	0		0.521819055958222	511	9.88	56	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	99	15.38	B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP							pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.A42S	ENST00000374859.2	37	c.124	CCDS4759.1	6	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464677	0.43736	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.4	5.4	0.78164	Proteasome, beta-type subunit, conserved site (1);	0.118882	0.56097	D	0.000034	T	0.31638	0.0803	L	0.28274	0.84	0.49213	D	0.999766	D;D	0.65815	0.995;0.987	D;D	0.69307	0.913;0.963	T	0.01791	-1.1273	10	0.32370	T	0.25	-28.1064	16.7172	0.85399	0.0:0.0:1.0:0.0	.	42;42	B4DZW2;P28065	.;PSB9_HUMAN	S	19;19;42;42;42	ENSP00000378739:A19S;ENSP00000394363:A19S;ENSP00000363993:A42S;ENSP00000394773:A42S	ENSP00000363993:A42S	A	+	1	0	PSMB9	32931956	0.983000	0.35010	1.000000	0.80357	0.130000	0.20726	2.661000	0.46758	2.808000	0.96608	0.551000	0.68910	GCA	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB		0.468	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	protein_coding	OTTHUMT00000076624.5	G	NM_002800	-		32823978	1	no_errors	ENST00000374859	ensembl	human	known	74_37	missense	SNP	1.000	T	T	32823978	G	T	32823978	3	4	235	1	0	0	0	0	1	0	0	0	12689	1319	46	3	130	3	PSMB9	6	32823978	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	1137072	32823978	138291089	20	19039											
MAP3K5	4217	genome.wustl.edu	37	chr6	136934374	136934374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatggaccccatttggaacGaaggagagcagaaagacttc	11	8	0	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:136934374G>A	ENST00000359015.4	-	17	2659	c.2299C>T	c.(2299-2301)Cgt>Tgt	p.R767C	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R14C	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CATTTGGAACGAAGGAGAGCA	0.318																																																	0								ENSG00000197442						89	84	86					6																	136934374		2203	4300	6503	MAP3K5	SO:0001583	missense	0			-	HGNC	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2299C>T	6.37:g.136934374G>A	ENSP00000351908:p.Arg767Cys	Somatic	0	99	0		0.521819055958222	22	8.33	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	100	9.91	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R767C	ENST00000359015.4	37	c.2299	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684138	0.68157	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66815	-0.23;-0.23	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101256	0.64402	D	0.000003	T	0.75236	0.3822	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.76575	0.988;0.896	T	0.78011	-0.2371	10	0.87932	D	0	.	13.2619	0.60111	0.0:0.0:0.7227:0.2773	.	847;767	Q59GL6;Q99683	.;M3K5_HUMAN	C	767;14;847	ENSP00000351908:R767C;ENSP00000348104:R14C	ENSP00000348104:R14C	R	-	1	0	MAP3K5	136976067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.620000	0.36976	2.667000	0.90743	0.655000	0.94253	CGT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	G		-		136934374	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	SNP	0.997	A	A	136934374	G	A	136934374	3	1	235	1	0	0	0	0	1	0	0	0	9255	1058	37	1	1881	1	MAP3K5	6	136934374	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	104110396	136934374	34180693	21	19040											
WDR27	253769	genome.wustl.edu	37	chr6	170070759	170070759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagcacctttcccaaaagcGagcccatgacagtccctcga	7	16	0	1	rs201671423	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:170070759G>A	ENST00000448612.1	-	4	471	c.362C>T	c.(361-363)tCg>tTg	p.S121L	WDR27_ENST00000420344.2_Missense_Mutation_p.S121L|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.S121L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	121						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)		TCCCAAAAGCGAGCCCATGAC	0.443													G|||	2	0.000399361	0	0	5008	,	,		17480	0		0	False		,,,				2504	0.002																0								ENSG00000184465						128	126	127					6																	170070759		1929	4154	6083	WDR27	SO:0001583	missense	0			-	HGNC	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.362C>T	6.37:g.170070759G>A	ENSP00000416289:p.Ser121Leu	Somatic	0	74	0		0.521819055958222	11	21.43	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	65	22.62	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S121L	ENST00000448612.1	37	c.362	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693750	0.30052	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000420344	T;T;T	0.70749	1.07;2.18;-0.51	5.52	4.65	0.58169	.	0.214503	0.37669	N	0.002000	T	0.40398	0.1115	L	0.43152	1.355	0.26027	N	0.981797	P;P	0.52692	0.913;0.955	B;B	0.31337	0.089;0.128	T	0.36089	-0.9762	10	0.56958	D	0.05	-13.1103	13.1852	0.59677	0.0782:0.0:0.9217:0.0	.	121;121	F2Z2U5;C9JGV0	.;.	L	121	ENSP00000416289:S121L;ENSP00000330265:S121L;ENSP00000406114:S121L	ENSP00000330265:S121L	S	-	2	0	WDR27	169812684	0.987000	0.35691	0.058000	0.19502	0.009000	0.06853	4.115000	0.57865	1.324000	0.45282	-0.339000	0.08088	TCG	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.443	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	protein_coding	OTTHUMT00000407334.1	G	NM_182552	-		170070759	-1	no_errors	ENST00000448612	ensembl	human	known	74_37	missense	SNP	0.787	A	A	170070759	G	A	170070759	3	1	235	1	0	0	0	0	1	0	0	0	17291	1059	37	1	2299	1	WDR27	6	170070759	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	33136385	170070759	1044308	22	19041											
DFNA5	1687	genome.wustl.edu	37	chr7	24784186	24784186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtctccttacctctcGgcagagtctctgatgagctg	9	12	3	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr7:24784186G>A	ENST00000342947.3	-	3	824	c.399C>T	c.(397-399)gcC>gcT	p.A133A	DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.A133A	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	133					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CTTACCTCTCGGCAGAGTCTC	0.488																																					GBM(78;184 1250 20134 20900 23600)												0								ENSG00000105928						116	113	114					7																	24784186		2203	4300	6503	DFNA5	SO:0001819	synonymous_variant	0			-	HGNC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.399C>T	7.37:g.24784186G>A		Somatic	0	58	0		0.521819055958222	96	43.27	74	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	46	41.03	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP							pfam_Gasdermin	p.A133	ENST00000342947.3	37	c.399	CCDS5389.1	7																																																																																			-	pfam_Gasdermin		0.488	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	protein_coding	OTTHUMT00000214060.2	G	NM_004403	-		24784186	-1	no_errors	ENST00000342947	ensembl	human	known	74_37	silent	SNP	0.000	A	A	24784186	G	A	24784186	2	1	235	1	0	0	0	0	0	0	0	1	4456	1103	39	1		1	DFNA5	7	24784186	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		24784186	134354477	23	19042											
ZNF479	90827	genome.wustl.edu	37	chr7	57188073	57188073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaggcatagggtttcTctctagtatgaattctctta	7	9	4	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr7:57188073T>C	ENST00000331162.4	-	5	1319	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	350					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATAGGGTTTCTCTCTAGTATG	0.433																																																	0								ENSG00000185177						25	27	26					7																	57188073		2085	4254	6339	ZNF479	SO:0001583	missense	0			-	HGNC	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1049A>G	7.37:g.57188073T>C	ENSP00000333776:p.Glu350Gly	Somatic	0	136	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	141	17.06		Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E350G	ENST00000331162.4	37	c.1049	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	14.09	2.432845	0.43224	.	.	ENSG00000185177	ENST00000331162	T	0.27557	1.66	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44973	0.1319	L	0.57536	1.79	0.32089	N	0.592173	D	0.89917	1.0	D	0.80764	0.994	T	0.51687	-0.8674	9	0.87932	D	0	.	5.7317	0.18042	0.0:0.0:0.0:1.0	.	350	Q96JC4	ZN479_HUMAN	G	350	ENSP00000333776:E350G	ENSP00000333776:E350G	E	-	2	0	ZNF479	57192015	0.467000	0.25831	0.037000	0.18230	0.035000	0.12851	1.481000	0.35476	0.339000	0.23719	0.329000	0.21502	GAG	-	pfscan_Znf_C2H2		0.433	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	protein_coding	OTTHUMT00000345302.1	T	XM_291202	-		57188073	-1	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	SNP	1.000	C	C	57188073	T	C	57188073	3	2	235	1	0	0	0	0	1	0	0	0	17940	1551	54	5	529	5	ZNF479	7	57188073	Missense_Mutation	SNP	T	TCGA-X6-A8C3-01A-11D-A36J-09	32403887	57188073	101950590	24	19043											
SAMD9	54809	genome.wustl.edu	37	chr7	92731597	92731598	+	Frame_Shift_Ins	INS	-	-	A													agcaggacaaagtattcatcINSaaaaaaatcaaaggactttt							TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr7:92731597_92731598insA	ENST00000379958.2	-	3	4082_4083	c.3813_3814insT	c.(3811-3816)tttgatfs	p.D1272fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1272						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGTATTCATCAAAAAAATCAA	0.312																																																	0								ENSG00000205413		,	4,4208		0,4,2102					,	2.7	1			47	2,8214		0,2,4106	no	frameshift,frameshift	SAMD9	NM_017654.3,NM_001193307.1	,	0,6,6208	A1A1,A1R,RR		0.0243,0.095,0.0483	,	,		6,12422				SAMD9	SO:0001589	frameshift_variant	0				HGNC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3814dupT	7.37:g.92731604_92731604dupA	ENSP00000369292:p.Asp1272fs	Somatic	0	82	0		0.521819055958222	43	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	68	19.05	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Ins	INS							pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.D1271fs	ENST00000379958.2	37	c.3814_3813	CCDS34680.1	7																																																																																			-	NULL		0.312	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	protein_coding	OTTHUMT00000341761.1	-	NM_017654			92731598	-1	no_errors	ENST00000379958	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	92731598	-	A	92731597	7	5	235	1	0	1	1	0	0	0	0	0	13834	826	29	0	959	0	SAMD9	7	92731597	Frame_Shift_Ins	INS	-	TCGA-X6-A8C3-01A-11D-A36J-09	35543524	92731597	66407066	25	19044											
CHD7	55636	genome.wustl.edu	37	chr8	61654811	61654811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccgttgcccacagtcccAgattctccccgaatcctccc	5	19	1	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr8:61654811A>G	ENST00000423902.2	+	2	1299	c.820A>G	c.(820-822)Aga>Gga	p.R274G	CHD7_ENST00000525508.1_Missense_Mutation_p.R274G|CHD7_ENST00000524602.1_Missense_Mutation_p.R274G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	274					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCACAGTCCCAGATTCTCCCC	0.557																																																	0								ENSG00000171316						105	106	105					8																	61654811		1982	4156	6138	CHD7	SO:0001583	missense	0			-	HGNC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.820A>G	8.37:g.61654811A>G	ENSP00000392028:p.Arg274Gly	Somatic	0	33	0		0.521819055958222	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	85	10.53	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R274G	ENST00000423902.2	37	c.820	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447330	0.25987	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.81739	-1.53;1.98;-1.14	5.09	2.57	0.30868	.	0.000000	0.46758	D	0.000273	T	0.52613	0.1745	N	0.03608	-0.345	0.37139	D	0.901632	P	0.43477	0.808	B	0.30943	0.122	T	0.59209	-0.7497	10	0.27785	T	0.31	-13.2456	12.0981	0.53767	0.5566:0.4434:0.0:0.0	.	274	Q9P2D1	CHD7_HUMAN	G	274	ENSP00000392028:R274G;ENSP00000437061:R274G;ENSP00000436027:R274G	ENSP00000307304:R274G	R	+	1	2	CHD7	61817365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.799000	0.47892	0.794000	0.33899	0.533000	0.62120	AGA	-	NULL		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	A	XM_098762	-		61654811	1	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	SNP	1.000	G	G	61654811	A	G	61654811	3	3	235	1	0	0	0	0	1	0	0	0	3332	180	7	5	822	5	CHD7	8	61654811	Missense_Mutation	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09		61654811	84709211	26	19045											
GPR172A	79581	genome.wustl.edu	37	chr8	145583332	145583332	+	Frame_Shift_Del	DEL	G	G	-													cttgtggctctggggaacctGggtctgctggtggtgaccct							TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr8:145583332delG	ENST00000532887.1	+	3	763	c.180delG	c.(178-180)ctgfs	p.L60fs	FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Frame_Shift_Del_p.L60fs|SLC52A2_ENST00000527078.1_Frame_Shift_Del_p.L60fs|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Frame_Shift_Del_p.L60fs|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000402965.1_Frame_Shift_Del_p.L60fs|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	60					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGGGGAACCTGGGTCTGCTGG	0.647																																																	0								ENSG00000185803						151	140	144					8																	145583332		2203	4300	6503	SLC52A2	SO:0001589	frameshift_variant	0				HGNC	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.180delG	8.37:g.145583332delG	ENSP00000436768:p.Leu60fs	Somatic	0	57	0		0.521819055958222	188	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	54	15.62	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Frame_Shift_Del	DEL							pfam_Endogenous_retrovirus_rcpt	p.G61fs	ENST00000532887.1	37	c.180	CCDS6423.1	8																																																																																			-	NULL		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	protein_coding	OTTHUMT00000382405.1	G	NM_024531			145583332	1	no_errors	ENST00000329994	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	145583332	G	-	145583332	7	5	235	1	0	1	0	1	0	0	0	0	6671	1335	47	0	186	0	GPR172A	8	145583332	Frame_Shift_Del	DEL	G	TCGA-X6-A8C3-01A-11D-A36J-09	83928521	145583332	780690	27	19046											
NTRK2	4915	genome.wustl.edu	37	chr9	87342760	87342761	+	In_Frame_Ins	INS	-	-	ATA													ccacggctgcctccagctggINSataatcccactcacatgaac							TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr9:87342760_87342761insATA	ENST00000323115.4	+	8	1398_1399	c.1045_1046insATA	c.(1045-1047)gat>gATAat	p.350_351insN	NTRK2_ENST00000304053.6_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000277120.3_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000376208.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000395882.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000376213.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000395866.2_In_Frame_Ins_p.194_195insN|NTRK2_ENST00000376214.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000359847.3_In_Frame_Ins_p.350_351insN			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	350	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCTCCAGCTGGATAATCCCACT	0.446										TSP Lung(25;0.17)																																							0								ENSG00000148053																																			NTRK2	SO:0001652	inframe_insertion	0				HGNC	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1046_1048dupATA	9.37:g.87342761_87342763dupATA	ENSP00000314586:p.Asn350_Asn350dup	Somatic	0	56	0		0.521819055958222	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	In_Frame_Ins	INS							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.351in_frame_insN	ENST00000323115.4	37	c.1045_1046	CCDS35050.1	9																																																																																			-	pfam_Ig_I-set,prints_Tyr_kinase_NGF_rcpt		0.446	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	-				87342761	1	no_errors	ENST00000277120	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	ATA	ATA	87342761	-	ATA	87342760	7	5	235	1	0	1	1	0	0	0	0	0	10709	1174	41	0	1075	0	NTRK2	9	87342760	In_Frame_Ins	INS	-	TCGA-X6-A8C3-01A-11D-A36J-09		87342760	53870671	28	19047											
ASTN2	23245	genome.wustl.edu	37	chr9	119495717	119495717	+	Frame_Shift_Del	DEL	C	C	-													tggaaggggctcggagaggaCcccccggcactgctcctcca							TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr9:119495717delC	ENST00000313400.4	-	14	2582	c.2482delG	c.(2482-2484)gtcfs	p.V828fs	ASTN2_ENST00000361209.2_Frame_Shift_Del_p.V777fs|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.V824fs			O75129	ASTN2_HUMAN	astrotactin 2	828					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCGGAGAGGACCCCCCGGCAC	0.612																																																	0								ENSG00000148219						91	98	96					9																	119495717		2203	4300	6503	ASTN2	SO:0001589	frameshift_variant	0				HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2482delG	9.37:g.119495717delC	ENSP00000314038:p.Val828fs	Somatic	0	46	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	58	13.43	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Frame_Shift_Del	DEL							pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.V828fs	ENST00000313400.4	37	c.2482		9																																																																																			-	NULL		0.612	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		C	NM_014010			119495717	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	119495717	C	-	119495717	7	5	235	1	0	1	0	1	0	0	0	0	1065	507	18	0	1809	0	ASTN2	9	119495717	Frame_Shift_Del	DEL	C	TCGA-X6-A8C3-01A-11D-A36J-09	32152957	119495717	21717714	29	19048											
ENKUR	219670	genome.wustl.edu	37	chr10	25284683	25284683	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttagccactcccatgatGatatcagctgcatttgtatt	6	9	1	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:25284683G>T	ENST00000331161.4	-	3	558	c.339C>A	c.(337-339)atC>atA	p.I113I	ENKUR_ENST00000376363.1_Silent_p.I113I	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	113						motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCCCATGATGATATCAGCTG	0.398																																																	0								ENSG00000151023						134	132	132					10																	25284683		2203	4300	6503	ENKUR	SO:0001819	synonymous_variant	0			-	HGNC	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"chromosome 10 open reading frame 63"	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.339C>A	10.37:g.25284683G>T		Somatic	0	54	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K8Y0|D3DRV2	Silent	SNP							NULL	p.I113	ENST00000331161.4	37	c.339	CCDS7146.1	10																																																																																			-	NULL		0.398	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENKUR	protein_coding	OTTHUMT00000047239.2	G	NM_145010	-		25284683	-1	no_errors	ENST00000331161	ensembl	human	known	74_37	silent	SNP	1.000	T	T	25284683	G	T	25284683	2	4	235	1	0	0	0	0	0	0	0	1	5122	1280	45	3		3	ENKUR	10	25284683	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		25284683	110250064	30	19049											
C10orf68	79741	genome.wustl.edu	37	chr10	33165274	33165274	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacataacttttctttaaaGtgttacatgctgctgcccga	6	10	1	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:33165274G>T	ENST00000375030.2	+	23	2335		c.e23-1		C10orf68_ENST00000375025.4_Splice_Site|C10orf68_ENST00000375028.3_Splice_Site			Q9H943	CJ068_HUMAN												breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTCTTTAAAGTGTTACATGC	0.303																																																	0								ENSG00000150076						67	65	66					10																	33165274		2203	4300	6503	C10orf68	SO:0001630	splice_region_variant	0			-	HGNC																												ENST00000375030.2:c.1718-1G>T	10.37:g.33165274G>T		Somatic	0	99	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	B0QZ71|Q08AN7|Q8N7T7	Splice_Site	SNP							-	e22-1	ENST00000375030.2	37	c.2033-1		10	.	.	.	.	.	.	.	.	.	.	.	8.710	0.911834	0.17907	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	4.23	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.33809	D	0.627637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1748	0.31275	0.1083:0.0:0.8917:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf68	33205280	0.366000	0.25014	0.030000	0.17652	0.046000	0.14306	0.692000	0.25482	1.370000	0.46153	-0.140000	0.14226	.	-	-		0.303	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	protein_coding	OTTHUMT00000313999.2	G		-	Intron	33165274	1	no_errors	ENST00000375025	ensembl	human	known	74_37	splice_site	SNP	0.040	T	T	33165274	G	T	33165274	5	4	235	1	0	0	0	0	0	0	1	0	1615	1043	36	3	1918	3	C10orf68	10	33165274	Splice_Site	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	7880591	33165274	102369473	31	19050											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72520516	72520516	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgccttggggctggactcaGacacctacgccagtccctga	11	15	1	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:72520516G>T	ENST00000373207.1	+	22	3579	c.3579G>T	c.(3577-3579)caG>caT	p.Q1193H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.Q1196H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1193	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCTGGACTCAGACACCTACGC	0.647																																																	0								ENSG00000138316						56	56	56					10																	72520516		2203	4300	6503	ADAMTS14	SO:0001583	missense	0			-	HGNC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3579G>T	10.37:g.72520516G>T	ENSP00000362303:p.Gln1193His	Somatic	0	37	0		0.521819055958222	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q1196H	ENST00000373207.1	37	c.3588	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372003	0.24857	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61742	0.08;0.11	4.58	-1.88	0.07713	.	2.652540	0.02160	N	0.058724	T	0.36771	0.0979	N	0.19112	0.55	0.09310	N	1	B;B	0.30664	0.289;0.289	B;B	0.25405	0.06;0.06	T	0.11817	-1.0572	10	0.46703	T	0.11	.	1.0626	0.01604	0.3633:0.1479:0.3376:0.1512	.	1193;1196	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	H	1196;1193	ENSP00000362304:Q1196H;ENSP00000362303:Q1193H	ENSP00000362303:Q1193H	Q	+	3	2	ADAMTS14	72190522	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-0.165000	0.09968	-0.495000	0.06659	-0.253000	0.11424	CAG	-	NULL		0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	protein_coding	OTTHUMT00000048522.1	G	NM_080722	-		72520516	1	no_errors	ENST00000373208	ensembl	human	known	74_37	missense	SNP	0.001	T	T	72520516	G	T	72520516	3	4	235	1	0	0	0	0	1	0	0	0	259	933	33	3	3674	3	ADAMTS14	10	72520516	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	39355242	72520516	63014231	32	19051											
ENTPD1	953	genome.wustl.edu	37	chr10	97607265	97607265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatataagaaggtagtgaaCgtaagtgacctttacaagac	11	5	0	4	rs199648967	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:97607265C>G	ENST00000371205.4	+	7	1159	c.876C>G	c.(874-876)aaC>aaG	p.N292K	ENTPD1_ENST00000453258.2_Missense_Mutation_p.N299K|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N154K|ENTPD1_ENST00000371203.5_Missense_Mutation_p.N154K|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N184K|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N304K|ENTPD1-AS1_ENST00000416301.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					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)		AGGTAGTGAACGTAAGTGACC	0.418																																																	0								ENSG00000138185						130	126	127					10																	97607265		2203	4300	6503	ENTPD1	SO:0001583	missense	0			-	HGNC	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.876C>G	10.37:g.97607265C>G	ENSP00000360248:p.Asn292Lys	Somatic	0	80	0		0.521819055958222	77	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	57	26.92	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP							pfam_GDA1_CD39_NTPase	p.N304K	ENST00000371205.4	37	c.912	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322139	0.23994	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78	5.77	-11.5	0.00074	.	0.512547	0.24479	N	0.038167	T	0.04452	0.0122	N	0.25992	0.78	0.09310	N	1	B;B;B	0.25351	0.102;0.006;0.124	B;B;B	0.32393	0.089;0.015;0.145	T	0.30238	-0.9985	10	0.06891	T	0.86	-7.215	9.1455	0.36930	0.0776:0.6575:0.1571:0.1079	.	304;299;292	G3XAF6;P49961-2;P49961	.;.;ENTP1_HUMAN	K	299;304;184;154;154;292	ENSP00000390955:N299K;ENSP00000360250:N304K;ENSP00000442968:N184K;ENSP00000440027:N154K;ENSP00000360246:N154K;ENSP00000360248:N292K	ENSP00000360246:N154K	N	+	3	2	ENTPD1	97597255	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-2.168000	0.01270	-2.926000	0.00302	-0.300000	0.09419	AAC	-	pfam_GDA1_CD39_NTPase		0.418	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	protein_coding	OTTHUMT00000049566.1	C	NM_001776	-		97607265	1	no_errors	ENST00000371207	ensembl	human	known	74_37	missense	SNP	0.000	G	G	97607265	C	G	97607265	3	3	235	1	0	0	0	0	1	0	0	0	5140	535	19	4	999	4	ENTPD1	10	97607265	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	25086749	97607265	37927482	33	19052											
AFAP1L2	84632	genome.wustl.edu	37	chr10	116093020	116093020	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgttgcttgttgatggtCactttgttcatataaatgta	8	5	3	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:116093020C>T	ENST00000304129.4	-	3	209	c.180G>A	c.(178-180)gtG>gtA	p.V60V	AFAP1L2_ENST00000369271.3_Silent_p.V60V|AFAP1L2_ENST00000545353.1_Silent_p.V60V			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	60					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGTTGATGGTCACTTTGTTCA	0.502																																																	0								ENSG00000169129						301	230	254					10																	116093020		2203	4300	6503	AFAP1L2	SO:0001819	synonymous_variant	0			-	HGNC	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.180G>A	10.37:g.116093020C>T		Somatic	0	48	0		0.521819055958222	22	21.43	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V60	ENST00000304129.4	37	c.180	CCDS31286.1	10																																																																																			-	NULL		0.502	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	protein_coding	OTTHUMT00000050462.1	C	NM_032550	-		116093020	-1	no_errors	ENST00000545353	ensembl	human	known	74_37	silent	SNP	0.972	T	T	116093020	C	T	116093020	2	4	235	1	0	0	0	0	0	0	0	1	355	813	29	2		2	AFAP1L2	10	116093020	Silent	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	18485755	116093020	19441727	34	19053											
VAX1	11023	genome.wustl.edu	37	chr10	118897354	118897354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggatccggcggcagtaatCcgggtccgctgcggaattgg	16	11	0	0	rs143954756	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:118897354C>A	ENST00000369206.5	-	1	213	c.214G>T	c.(214-216)Gat>Tat	p.D72Y	VAX1_ENST00000277905.2_Missense_Mutation_p.D72Y	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	72					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCAGTAATCCGGGTCCGCT	0.667																																																	0								ENSG00000148704						25	31	29					10																	118897354		2203	4299	6502	VAX1	SO:0001583	missense	0			-	HGNC	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.214G>T	10.37:g.118897354C>A	ENSP00000358207:p.Asp72Tyr	Somatic	0	47	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	32	41.82	B1AVW5|Q6ZSX0	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.D72Y	ENST00000369206.5	37	c.214	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098892	0.37048	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.92495	-2.33;-3.05	3.87	3.87	0.44632	.	0.118101	0.56097	D	0.000033	D	0.94404	0.8200	L	0.57536	1.79	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	D	0.93590	0.6920	10	0.37606	T	0.19	-9.0901	13.9936	0.64382	0.0:1.0:0.0:0.0	.	72;72	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	Y	72	ENSP00000277905:D72Y;ENSP00000358207:D72Y	ENSP00000277905:D72Y	D	-	1	0	VAX1	118887344	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	6.595000	0.74109	1.696000	0.51158	0.305000	0.20034	GAT	-	NULL		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	protein_coding	OTTHUMT00000050559.3	C	XM_301242	-		118897354	-1	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118897354	C	A	118897354	3	1	235	1	0	0	0	0	1	0	0	0	17141	855	30	3	942	3	VAX1	10	118897354	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	2804334	118897354	16637393	35	19054											
MKI67	4288	genome.wustl.edu	37	chr10	129907069	129907069	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtgtttattggttctGgttgtaatgactggcagggc	16	4	1	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:129907069G>T	ENST00000368654.3	-	13	3410	c.3035C>A	c.(3034-3036)cCa>cAa	p.P1012Q	MKI67_ENST00000368653.3_Missense_Mutation_p.P652Q|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1012	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TATTGGTTCTGGTTGTAATGA	0.483																																																	0								ENSG00000148773						524	512	516					10																	129907069		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3035C>A	10.37:g.129907069G>T	ENSP00000357643:p.Pro1012Gln	Somatic	0	30	0		0.521819055958222	64	18.99	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q5VWH2	Missense_Mutation	SNP							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P1012Q	ENST00000368654.3	37	c.3035	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	9.084	1.000101	0.19121	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03035	4.07;4.07	3.77	-0.48	0.12085	.	2.862750	0.01484	N	0.016790	T	0.08358	0.0208	L	0.58101	1.795	0.09310	N	1	P;D;P	0.53312	0.835;0.959;0.918	B;P;P	0.52267	0.368;0.66;0.694	T	0.35773	-0.9775	10	0.19147	T	0.46	.	4.8605	0.13581	0.2845:0.1551:0.5604:0.0	.	1011;652;1012	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1012;652;1011	ENSP00000357643:P1012Q;ENSP00000357642:P652Q	ENSP00000357642:P652Q	P	-	2	0	MKI67	129797059	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.147000	0.16202	-0.192000	0.10432	-0.264000	0.10439	CCA	-	pfam_K167R		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129907069	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	T	T	129907069	G	T	129907069	3	4	235	1	0	0	0	0	1	0	0	0	9600	1348	47	3	6747	3	MKI67	10	129907069	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	11009715	129907069	5627678	36	19055											
CYP2E1	1571	genome.wustl.edu	37	chr10	135345227	135345227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgctggaagcactcaGgaagacccaaggtgcgtatc	11	12	1	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:135345227G>T	ENST00000463117.2	+	5	748	c.476G>T	c.(475-477)aGg>aTg	p.R159M	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R159M|AL161645.2_ENST00000599428.1_5'Flank|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	159					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|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)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAAGCACTCAGGAAGACCCAA	0.617									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0								ENSG00000130649						58	54	56					10																	135345227		2203	4300	6503	CYP2E1	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	HGNC	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.476G>T	10.37:g.135345227G>T	ENSP00000440689:p.Arg159Met	Somatic	0	42	0		0.521819055958222	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R159M	ENST00000463117.2	37	c.476	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995932	0.54147	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586	T;T;T	0.71103	-0.54;-0.54;-0.54	5.01	4.09	0.47781	.	0.294347	0.42294	D	0.000727	T	0.71307	0.3324	L	0.43646	1.37	0.22737	N	0.998799	D	0.67145	0.996	P	0.54499	0.754	T	0.64681	-0.6350	10	0.87932	D	0	.	10.6492	0.45638	0.0954:0.0:0.9046:0.0	.	159	P05181	CP2E1_HUMAN	M	159;159;72	ENSP00000440689:R159M;ENSP00000252945:R159M;ENSP00000412754:R72M	ENSP00000252945:R159M	R	+	2	0	CYP2E1	135195217	0.002000	0.14202	0.829000	0.32907	0.457000	0.32468	0.874000	0.28065	1.448000	0.47680	0.655000	0.94253	AGG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.617	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	protein_coding	OTTHUMT00000051161.2	G	NM_000773	-		135345227	1	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	SNP	0.701	T	T	135345227	G	T	135345227	3	4	235	1	0	0	0	0	1	0	0	0	4172	1000	35	3	486	3	CYP2E1	10	135345227	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	5438158	135345227	189520	37	19056											
MUC5B	727897	genome.wustl.edu	37	chr11	1266479	1266479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacagagccttccacggGgacttcccacaccccagcag	8	18	1	1	rs202133597	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:1266479G>T	ENST00000529681.1	+	31	8427	c.8369G>T	c.(8368-8370)gGg>gTg	p.G2790V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G2793V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2790	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		CCTTCCACGGGGACTTCCCAC	0.667																																																	0								ENSG00000117983						19	24	22					11																	1266479		1776	3932	5708	MUC5B	SO:0001583	missense	0			-	HGNC	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.8369G>T	11.37:g.1266479G>T	ENSP00000436812:p.Gly2790Val	Somatic	0	33	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP							pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G2793V	ENST00000529681.1	37	c.8378	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	2.799	-0.249517	0.05867	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24723	1.84;2.02	1.58	-1.18	0.09617	.	.	.	.	.	T	0.06050	0.0157	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31447	-0.9943	9	0.87932	D	0	.	3.1646	0.06531	0.0:0.421:0.2369:0.3421	.	3373;2793	A7Y9J9;E9PBJ0	.;.	V	2790;2793;2762;2750	ENSP00000436812:G2790V;ENSP00000415793:G2793V	ENSP00000343037:G2762V	G	+	2	0	MUC5B	1223055	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-4.009000	0.00314	-0.877000	0.04012	-1.241000	0.01538	GGG	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	G	XM_001126093	rs202133597		1266479	1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.000	T	T	1266479	G	T	1266479	3	4	235	1	0	0	0	0	1	0	0	0	9981	1232	43	3	8500	3	MUC5B	11	1266479	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		1266479	133740037	38	19057											
OR5L1	219437	genome.wustl.edu	37	chr11	55579721	55579721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtcctttccatttattGcaggcccagttcaggcaata	7	11	1	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:55579721G>A	ENST00000333973.2	+	1	868	c.779G>A	c.(778-780)tGc>tAc	p.C260Y		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCCATTTATTGCAGGCCCAGT	0.512																																																	0								ENSG00000186117						116	100	105					11																	55579721		2200	4296	6496	OR5L1	SO:0001583	missense	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.779G>A	11.37:g.55579721G>A	ENSP00000335529:p.Cys260Tyr	Somatic	0	48	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B2RNK6|Q6IFD0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C260Y	ENST00000333973.2	37	c.779	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	g	11.02	1.515055	0.27123	.	.	ENSG00000186117	ENST00000333973	T	0.35421	1.31	4.12	-0.804	0.10882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.33876	0.0878	L	0.48986	1.54	0.09310	N	1	B	0.23806	0.091	B	0.32022	0.139	T	0.45934	-0.9227	10	0.87932	D	0	-23.9671	13.0222	0.58794	0.0:0.0:0.2447:0.7553	.	260	Q8NGL2	OR5L1_HUMAN	Y	260	ENSP00000335529:C260Y	ENSP00000335529:C260Y	C	+	2	0	OR5L1	55336297	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	0.164000	0.16542	-0.102000	0.12197	0.428000	0.28381	TGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	G	NM_001004738	-		55579721	1	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55579721	G	A	55579721	3	1	235	1	0	0	0	0	1	0	0	0	11172	1319	46	2	781	2	OR5L1	11	55579721	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	54313242	55579721	79426795	39	19058											
PATL1	219988	genome.wustl.edu	37	chr11	59419077	59419077	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcggggattattcacactAgaaacggtaagctttcccaa	8	9	1	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:59419077A>T	ENST00000300146.9	-	12	1548	c.1464T>A	c.(1462-1464)tcT>tcA	p.S488S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	488	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TATTCACACTAGAAACGGTAA	0.383																																																	0								ENSG00000166889						94	79	84					11																	59419077		1875	4101	5976	PATL1	SO:0001819	synonymous_variant	0			-	HGNC	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1464T>A	11.37:g.59419077A>T		Somatic	0	40	0		0.521819055958222	81	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP							pfam_Topo_II-assoc_PAT1	p.S488	ENST00000300146.9	37	c.1464	CCDS44613.1	11																																																																																			-	pfam_Topo_II-assoc_PAT1		0.383	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	protein_coding	OTTHUMT00000394559.1	A	NM_152716	-		59419077	-1	no_errors	ENST00000300146	ensembl	human	known	74_37	silent	SNP	1.000	T	T	59419077	A	T	59419077	2	4	235	1	0	0	0	0	0	0	0	1	11477	407	15	5		5	PATL1	11	59419077	Silent	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	3839356	59419077	75587439	40	19059											
SPTBN2	6712	genome.wustl.edu	37	chr11	66460047	66460047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagctcgtgggaggccGccaccacctcgcgctcctgg	14	18	0	0	rs376579703		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:66460047G>A	ENST00000533211.1	-	26	5481	c.5150C>T	c.(5149-5151)gCg>gTg	p.A1717V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1717V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1717V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1717					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGGGAGGCCGCCACCACCTC	0.672																																																	0								ENSG00000173898	G	VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	62	57	59		5150	4.9	1	11		59	0,8590		0,0,4295	no	missense	SPTBN2	NM_006946.2	64	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1717/2391	66460047	1,12989	2200	4295	6495	SPTBN2	SO:0001583	missense	0			-	HGNC	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5150C>T	11.37:g.66460047G>A	ENSP00000432568:p.Ala1717Val	Somatic	0	24	0		0.521819055958222	1	88.89	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	61.76	O14872|O14873	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1717V	ENST00000533211.1	37	c.5150	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.332684	0.95733	2.27E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48836	0.8;0.8;0.8	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63180	-0.6695	10	0.31617	T	0.26	.	17.0374	0.86480	0.0:0.0:1.0:0.0	.	1717	O15020	SPTN2_HUMAN	V	1717	ENSP00000432568:A1717V;ENSP00000311489:A1717V;ENSP00000433593:A1717V	ENSP00000311489:A1717V	A	-	2	0	SPTBN2	66216623	1.000000	0.71417	0.973000	0.42090	0.931000	0.56810	9.563000	0.98148	2.550000	0.86006	0.462000	0.41574	GCG	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	G	NM_006946	-		66460047	-1	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	SNP	1.000	A	A	66460047	G	A	66460047	3	1	235	1	0	0	0	0	1	0	0	0	15127	1087	38	1	2074	1	SPTBN2	11	66460047	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	7040970	66460047	68546469	41	19060											
HEPHL1	341208	genome.wustl.edu	37	chr11	93806290	93806290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaacttttactaaaagAaagagactctctgctgaaga	8	7	1	4			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:93806290A>G	ENST00000315765.9	+	7	1340	c.1332A>G	c.(1330-1332)agA>agG	p.R444R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	444	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTACTAAAAGAAAGAGACTCT	0.428																																																	0								ENSG00000181333						90	83	85					11																	93806290		1837	4086	5923	HEPHL1	SO:0001819	synonymous_variant	0			-	HGNC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1332A>G	11.37:g.93806290A>G		Somatic	0	43	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	32	15.79	Q3C1W7	Silent	SNP							pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.R444	ENST00000315765.9	37	c.1332	CCDS44710.1	11																																																																																			-	superfamily_Cupredoxin		0.428	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	A	XM_291947	-		93806290	1	no_errors	ENST00000315765	ensembl	human	known	74_37	silent	SNP	0.120	G	G	93806290	A	G	93806290	2	3	235	1	0	0	0	0	0	0	0	1	7057	243	9	5		5	HEPHL1	11	93806290	Silent	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	27346243	93806290	41200226	42	19061											
ST14	6768	genome.wustl.edu	37	chr11	130059725	130059725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcatggccgaggagcgcGtagtcatgctgcccccgcgg	16	14	2	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:130059725G>T	ENST00000278742.5	+	5	950	c.532G>T	c.(532-534)Gta>Tta	p.V178L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	178	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGAGGAGCGCGTAGTCATGCT	0.672																																																	0								ENSG00000149418						88	87	88					11																	130059725		2201	4297	6498	ST14	SO:0001583	missense	0			-	HGNC	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.532G>T	11.37:g.130059725G>T	ENSP00000278742:p.Val178Leu	Somatic	0	67	0		0.521819055958222	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP							pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.V178L	ENST00000278742.5	37	c.532	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039847	0.19669	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.87809	-2.3	5.1	-0.024	0.13941	SEA (1);	1.427190	0.05189	N	0.502703	T	0.74366	0.3707	L	0.31664	0.95	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.58584	-0.7611	10	0.02654	T	1	.	2.4426	0.04498	0.4293:0.1154:0.337:0.1182	.	178	Q9Y5Y6	ST14_HUMAN	L	178;80	ENSP00000278742:V178L	ENSP00000278742:V178L	V	+	1	0	ST14	129564935	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.205000	0.09411	-0.188000	0.10499	-0.140000	0.14226	GTA	-	pirsf_Peptidase_S1A_matripase,pfam_SEA_dom		0.672	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	protein_coding	OTTHUMT00000386119.1	G		-		130059725	1	no_errors	ENST00000278742	ensembl	human	known	74_37	missense	SNP	0.000	T	T	130059725	G	T	130059725	3	4	235	1	0	0	0	0	1	0	0	0	15218	1145	40	3	550	3	ST14	11	130059725	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	36253435	130059725	4946791	43	19062											
CACNA1C	775	genome.wustl.edu	37	chr12	2602406	2602406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctggaaacgggccacGggcggcagtgccagaacggc	18	12	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:2602406G>A	ENST00000347598.4	+	7	967	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	CACNA1C_ENST00000344100.3_Missense_Mutation_p.G323R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G323R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G323R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G323R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G323R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G323R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	323					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACGGGCCACGGGCGGCAGTG	0.602																																																	0								ENSG00000151067						80	82	81					12																	2602406		2160	4279	6439	CACNA1C	SO:0001583	missense	0			-	HGNC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.967G>A	12.37:g.2602406G>A	ENSP00000266376:p.Gly323Arg	Somatic	0	55	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	63	14.86	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.G323R	ENST00000347598.4	37	c.967	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216876	0.79352	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.34;-4.34;-4.33;-4.34;-4.33;-4.33;-4.35;-4.26;-4.3;-4.36;-4.28;-4.27;-4.35;-4.39;-4.27;-4.19;-4.4;-4.35;-4.33;-4.4;-4.28;-4.38;-4.4	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;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;1.0;0.921;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;D;B;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.996;1.0;0.999;1.0;1.0;1.0;1.0;0.999;0.399;1.0;0.998;0.999;1.0;1.0;0.999;0.999	D	0.99490	1.0950	10	0.87932	D	0	.	18.6169	0.91305	0.0:0.0:1.0:0.0	.	323;320;323;323;323;323;323;323;323;323;323;294;323;323;323;323;323;323;323;323;323;323;323;323	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;164	ENSP00000336982:G323R;ENSP00000382563:G323R;ENSP00000437936:G323R;ENSP00000382552:G323R;ENSP00000382547:G323R;ENSP00000382506:G323R;ENSP00000382530:G323R;ENSP00000382546:G323R;ENSP00000382500:G323R;ENSP00000382549:G323R;ENSP00000266376:G323R;ENSP00000382515:G323R;ENSP00000382510:G323R;ENSP00000341092:G323R;ENSP00000382537:G323R;ENSP00000329877:G323R;ENSP00000382557:G323R;ENSP00000385724:G323R;ENSP00000382512:G323R;ENSP00000382542:G323R;ENSP00000382526:G323R;ENSP00000385896:G323R;ENSP00000382504:G323R	ENSP00000323129:G164R	G	+	1	0	CACNA1C	2472667	1.000000	0.71417	0.962000	0.40283	0.400000	0.30750	9.601000	0.98297	2.633000	0.89246	0.455000	0.32223	GGG	-	pfam_Ion_trans_dom		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	protein_coding	OTTHUMT00000317035.1	G	NM_000719	-		2602406	1	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	SNP	1.000	A	A	2602406	G	A	2602406	3	1	235	1	0	0	0	0	1	0	0	0	2542	1116	39	1	993	1	CACNA1C	12	2602406	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		2602406	131249489	44	19063											
PHB2	11331	genome.wustl.edu	37	chr12	7077684	7077684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtagtccagccctaggcGctggtacatgctaggaagct	12	12	0	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:7077684G>A	ENST00000535923.1	-	4	648	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	PHB2_ENST00000399433.2_Missense_Mutation_p.R123C|PHB2_ENST00000546111.1_Intron|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000440277.1_Missense_Mutation_p.R123C|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000542912.1_Missense_Mutation_p.R123C	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						AGCCCTAGGCGCTGGTACATG	0.547																																																	0								ENSG00000215021						83	82	83					12																	7077684		2079	4210	6289	PHB2	SO:0001583	missense	0			-	HGNC	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.367C>T	12.37:g.7077684G>A	ENSP00000441875:p.Arg123Cys	Somatic	0	61	0		0.521819055958222	457	21.88	128	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	75	17.58		Missense_Mutation	SNP							pfam_Band_7,smart_Band_7,prints_Prohibitin	p.R123C	ENST00000535923.1	37	c.367	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587386	0.86851	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.31	4.42	0.53409	.	0.074322	0.56097	U	0.000028	D	0.94483	0.8224	L	0.31926	0.97	0.80722	D	1	P;D;D	0.76494	0.944;0.998;0.999	P;P;P	0.61658	0.86;0.892;0.892	D	0.94974	0.8119	10	0.72032	D	0.01	-7.2573	14.2285	0.65875	0.0721:0.0:0.9279:0.0	.	123;123;123	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	C	123;123;123;123;159;134	ENSP00000441875:R123C;ENSP00000440317:R123C;ENSP00000382362:R123C;ENSP00000412856:R123C;ENSP00000441662:R159C;ENSP00000439029:R134C	ENSP00000382362:R123C	R	-	1	0	PHB2	6947945	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.813000	0.99286	1.378000	0.46305	-0.136000	0.14681	CGC	-	pfam_Band_7,smart_Band_7		0.547	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	protein_coding	OTTHUMT00000400040.3	G	NM_007273	-		7077684	-1	no_errors	ENST00000399433	ensembl	human	known	74_37	missense	SNP	1.000	A	A	7077684	G	A	7077684	3	1	235	1	0	0	0	0	1	0	0	0	11817	1087	38	1	556	1	PHB2	12	7077684	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	4475278	7077684	126774211	45	19064											
LRRK2	120892	genome.wustl.edu	37	chr12	40692910	40692910	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatcttgtctcttgtgactaGaaataaaatatcagggatat	7	5	3	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40692910G>A	ENST00000298910.7	+	25	3405		c.e25-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTGTGACTAGAAATAAAATA	0.313																																																	0								ENSG00000188906						77	82	80					12																	40692910		2203	4300	6503	LRRK2	SO:0001630	splice_region_variant	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3348-1G>A	12.37:g.40692910G>A		Somatic	0	70	0		0.521819055958222	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	88	14.56	A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP							-	e25-1	ENST00000298910.7	37	c.3348-1	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756488	0.49362	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4993	0.90876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	38979177	1.000000	0.71417	0.996000	0.52242	0.568000	0.35870	7.722000	0.84778	2.365000	0.80145	0.491000	0.48974	.	-	-		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513	-	Intron	40692910	1	no_errors	ENST00000298910	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	40692910	G	A	40692910	5	1	235	1	0	0	0	0	0	0	1	0	9035	956	33	2	3445	2	LRRK2	12	40692910	Splice_Site	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	33615226	40692910	93158985	46	19065			1	99		4	3	140	N	G	5.779394e-08
LRRK2	120892	genome.wustl.edu	37	chr12	40692941	40692941	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagggatatgctcccccttGagactgaaggaactgaagat	11	9	1	4			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40692941G>A	ENST00000298910.7	+	25	3436	c.3378G>A	c.(3376-3378)ttG>ttA	p.L1126L	LRRK2_ENST00000343742.2_Silent_p.L1126L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1126					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTCCCCCTTGAGACTGAAGG	0.333																																																	0								ENSG00000188906						116	125	122					12																	40692941		2203	4300	6503	LRRK2	SO:0001819	synonymous_variant	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3378G>A	12.37:g.40692941G>A		Somatic	0	83	0		0.521819055958222	15	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	116	14.71	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L1126	ENST00000298910.7	37	c.3378	CCDS31774.1	12																																																																																			-	NULL		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513	-		40692941	1	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	SNP	0.879	A	A	40692941	G	A	40692941	2	1	235	1	0	0	0	0	0	0	0	1	9035	1281	45	2		2	LRRK2	12	40692941	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	31	40692941	93158954	47	19066			1	99		4	3	140	N	G	5.779394e-08
LRRK2	120892	genome.wustl.edu	37	chr12	40693045	40693045	+	Missense_Mutation	SNP	G	G	A													agtggagagtttcagtgccaGaatgaattttcttggtaagt							TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40693045G>A	ENST00000298910.7	+	25	3540	c.3482G>A	c.(3481-3483)aGa>aAa	p.R1161K	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1161K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1161					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGTGCCAGAATGAATTTT	0.408																																																	0								ENSG00000188906						169	179	175					12																	40693045		2203	4300	6503	LRRK2	SO:0001583	missense	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3482G>A	12.37:g.40693045G>A	ENSP00000298910:p.Arg1161Lys	Somatic	0	117	0		0.521819055958222	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	119	13.77	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R1161K	ENST00000298910.7	37	c.3482	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250404	0.39797	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25085	2.21;1.82	5.12	4.23	0.50019	.	0.194250	0.43260	N	0.000600	T	0.14657	0.0354	N	0.21240	0.645	0.25307	N	0.989239	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.26573	-1.0099	10	0.11794	T	0.64	.	9.3216	0.37968	0.0768:0.1444:0.7788:0.0	.	1161;1161	E9PC85;Q5S007	.;LRRK2_HUMAN	K	1161	ENSP00000341930:R1161K;ENSP00000298910:R1161K	ENSP00000298910:R1161K	R	+	2	0	LRRK2	38979312	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.609000	0.54117	1.142000	0.42291	0.313000	0.20887	AGA	-	NULL		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513	-		40693045	1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	SNP	0.998	A	A	40693045	G	A	40693045	3	1	235	1	0	0	0	0	1	0	0	0	9035	942	33	2	3580	2	LRRK2	12	40693045	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	104	40693045	93158850	48	19067	498	2	1	99		4	3	140	N	G	5.779394e-08
LRRK2	120892	genome.wustl.edu	37	chr12	40693049	40693049	+	Missense_Mutation	SNP	G	G	A													gagagtttcagtgccagaatGaattttcttggtaagtgttc							TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40693049G>A	ENST00000298910.7	+	25	3544	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	LRRK2_ENST00000343742.2_Missense_Mutation_p.M1162I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1162					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGCCAGAATGAATTTTCTTG	0.398																																																	0								ENSG00000188906						167	177	173					12																	40693049		2203	4300	6503	LRRK2	SO:0001583	missense	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3486G>A	12.37:g.40693049G>A	ENSP00000298910:p.Met1162Ile	Somatic	0	110	0		0.521819055958222	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	116	14.07	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.M1162I	ENST00000298910.7	37	c.3486	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512916	0.27123	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.24151	2.25;1.87	5.12	3.06	0.35304	.	0.205916	0.51477	N	0.000092	T	0.12860	0.0312	N	0.17082	0.46	0.31181	N	0.702017	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.22109	T	0.4	.	6.1283	0.20192	0.165:0.0:0.6877:0.1473	.	1162;1162	E9PC85;Q5S007	.;LRRK2_HUMAN	I	1162	ENSP00000341930:M1162I;ENSP00000298910:M1162I	ENSP00000298910:M1162I	M	+	3	0	LRRK2	38979316	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	1.912000	0.39946	0.403000	0.25479	0.313000	0.20887	ATG	-	NULL		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513	-		40693049	1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40693049	G	A	40693049	3	1	235	1	0	0	0	0	1	0	0	0	9035	1290	45	2	3584	2	LRRK2	12	40693049	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	4	40693049	93158846	49	19068	498	2	1	99		4	3	140	N	G	5.779394e-08
BRAP	8315	genome.wustl.edu	37	chr12	112110525	112110525	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaaacgtcatcttcTattgagttgaactggcggcc	11	10	3	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:112110525T>A	ENST00000327551.6	-	5	737	c.597A>T	c.(595-597)atA>atT	p.I199I	BRAP_ENST00000539060.1_Intron|BRAP_ENST00000419234.4_Silent_p.I229I			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGTCATCTTCTATTGAGTTGA	0.368																																					Pancreas(146;846 1904 7830 25130 26065)												0								ENSG00000089234						106	93	98					12																	112110525		2203	4300	6503	BRAP	SO:0001819	synonymous_variant	0			-	HGNC	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.597A>T	12.37:g.112110525T>A		Somatic	0	64	0		0.521819055958222	57	24.68	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP							pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.I229	ENST00000327551.6	37	c.687		12																																																																																			-	pfam_BRAP2		0.368	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	protein_coding	OTTHUMT00000404994.2	T		-		112110525	-1	no_errors	ENST00000419234	ensembl	human	known	74_37	silent	SNP	0.993	A	A	112110525	T	A	112110525	2	1	235	1	0	0	0	0	0	0	0	1	1499	1512	53	5		5	BRAP	12	112110525	Silent	SNP	T	TCGA-X6-A8C3-01A-11D-A36J-09	71417476	112110525	21741370	50	19069											
TMEM132B	114795	genome.wustl.edu	37	chr12	126139120	126139120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacaccaccatcctccCagaggacggcggcccataca	7	18	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:126139120C>A	ENST00000299308.3	+	9	3109	c.3101C>A	c.(3100-3102)cCa>cAa	p.P1034Q	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P546Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1034						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCATCCTCCCAGAGGACGGC	0.473																																																	0								ENSG00000139364						65	63	64					12																	126139120		1877	4107	5984	TMEM132B	SO:0001583	missense	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3101C>A	12.37:g.126139120C>A	ENSP00000299308:p.Pro1034Gln	Somatic	0	49	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP							NULL	p.P1034Q	ENST00000299308.3	37	c.3101	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396708	0.83120	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13089	3.38;2.62	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.38161	0.1030	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03374	-1.1043	10	0.87932	D	0	.	20.0839	0.97794	0.0:1.0:0.0:0.0	.	1034	Q14DG7	T132B_HUMAN	Q	1034;546	ENSP00000299308:P1034Q;ENSP00000440436:P546Q	ENSP00000299308:P1034Q	P	+	2	0	TMEM132B	124705073	1.000000	0.71417	0.945000	0.38365	0.976000	0.68499	5.864000	0.69575	2.741000	0.93983	0.655000	0.94253	CCA	-	NULL		0.473	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	C	NM_052907	-		126139120	1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126139120	C	A	126139120	3	1	235	1	0	0	0	0	1	0	0	0	16053	594	21	3	3135	3	TMEM132B	12	126139120	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	14028595	126139120	7712775	51	19070											
SGCG	6445	genome.wustl.edu	37	chr13	23853610	23853610	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttggtacagataaacttcgAgtaactggtatgtactaact	9	6	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr13:23853610A>T	ENST00000218867.3	+	5	622	c.498A>T	c.(496-498)cgA>cgT	p.R166R	SGCG_ENST00000545013.1_Silent_p.R166R|SGCG_ENST00000537476.1_Silent_p.R166R	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ATAAACTTCGAGTAACTGGTA	0.383																																																	0								ENSG00000102683						101	87	92					13																	23853610		2203	4300	6503	SGCG	SO:0001819	synonymous_variant	0			-	HGNC	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.498A>T	13.37:g.23853610A>T		Somatic	0	62	0		0.521819055958222	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	Q32M32|Q5T9J6	Silent	SNP							pfam_Sarcoglycan	p.R166	ENST00000218867.3	37	c.498	CCDS9299.1	13																																																																																			-	pfam_Sarcoglycan		0.383	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	protein_coding	OTTHUMT00000044151.1	A	NM_000231	-		23853610	1	no_errors	ENST00000218867	ensembl	human	known	74_37	silent	SNP	0.998	T	T	23853610	A	T	23853610	2	4	235	1	0	0	0	0	0	0	0	1	14211	291	11	5		5	SGCG	13	23853610	Silent	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09		23853610	91316268	52	19071											
MTUS2	23281	genome.wustl.edu	37	chr13	29599892	29599892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatccatgtggggaagcaCacccggaagccaccgatgca	14	12	0	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr13:29599892C>T	ENST00000431530.3	+	1	1145	c.1087C>T	c.(1087-1089)Cac>Tac	p.H363Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	353						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						TGGGGAAGCACACCCGGAAGC	0.567																																																	0								ENSG00000132938						50	54	53					13																	29599892		2076	4209	6285	MTUS2	SO:0001583	missense	0			-	HGNC	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.1087C>T	13.37:g.29599892C>T	ENSP00000392057:p.His363Tyr	Somatic	0	33	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP							NULL	p.H363Y	ENST00000431530.3	37	c.1087	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	c	0.223	-1.026984	0.02045	.	.	ENSG00000132938	ENST00000431530	T	0.11385	2.78	4.81	2.03	0.26663	.	2.113130	0.01909	N	0.039738	T	0.05044	0.0135	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32745	-0.9895	9	.	.	.	.	3.5666	0.07903	0.1891:0.5113:0.0:0.2996	.	353	Q5JR59	MTUS2_HUMAN	Y	363	ENSP00000392057:H363Y	.	H	+	1	0	MTUS2	28497892	0.014000	0.17966	0.000000	0.03702	0.001000	0.01503	0.664000	0.25068	0.605000	0.29947	0.591000	0.81541	CAC	-	NULL		0.567	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	protein_coding	OTTHUMT00000044336.3	C	XM_166270	-		29599892	1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	SNP	0.000	T	T	29599892	C	T	29599892	3	4	235	1	0	0	0	0	1	0	0	0	9968	478	17	2	1089	2	MTUS2	13	29599892	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	5746282	29599892	85569986	53	19072											
C14orf166B	145497	genome.wustl.edu	37	chr14	77323797	77323797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagaggaaccccaaatccagGatggaagagcttgatatttc	10	8	0	3			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr14:77323797G>T	ENST00000393774.3	+	10	1207	c.1083G>T	c.(1081-1083)agG>agT	p.R361S		NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CCAAATCCAGGATGGAAGAGC	0.453																																					Ovarian(165;1056 1958 32571 36789 48728)												0								ENSG00000100565						81	77	78					14																	77323797		1880	4118	5998	C14orf166B	SO:0001583	missense	0			-	HGNC																												ENST00000393774.3:c.1083G>T	14.37:g.77323797G>T	ENSP00000377369:p.Arg361Ser	Somatic	0	38	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R361S	ENST00000393774.3	37	c.1083	CCDS9853.2	14	.	.	.	.	.	.	.	.	.	.	G	5.692	0.312250	0.10789	.	.	ENSG00000100565	ENST00000393774	T	0.52983	0.64	5.17	3.33	0.38152	.	1.549250	0.03617	N	0.235778	T	0.31451	0.0797	N	0.16602	0.42	0.19775	N	0.999957	B	0.15719	0.014	B	0.10450	0.005	T	0.23261	-1.0193	10	0.09084	T	0.74	.	7.0486	0.25061	0.1503:0.0:0.7084:0.1413	.	361	Q0VAA2	CN16B_HUMAN	S	361	ENSP00000377369:R361S	ENSP00000377369:R361S	R	+	3	2	C14orf166B	76393550	0.964000	0.33143	0.645000	0.29479	0.973000	0.67179	1.313000	0.33585	0.557000	0.29117	-0.379000	0.06801	AGG	-	NULL		0.453	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	protein_coding	OTTHUMT00000316592.1	G		-		77323797	1	no_errors	ENST00000393774	ensembl	human	known	74_37	missense	SNP	0.214	T	T	77323797	G	T	77323797	3	4	235	1	0	0	0	0	1	0	0	0	1759	1165	41	3	1121	3	C14orf166B	14	77323797	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		77323797	30025743	54	19073											
THBS1	7057	genome.wustl.edu	37	chr15	39882082	39882082	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcaactacctgggccActatagcgaccccatgtacc	8	15	0	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:39882082A>C	ENST00000260356.5	+	13	2168	c.2003A>C	c.(2002-2004)cAc>cCc	p.H668P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	668	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.H668R(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TACCTGGGCCACTATAGCGAC	0.602																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000137801						113	96	102					15																	39882082		2200	4297	6497	THBS1	SO:0001583	missense	0			-	HGNC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2003A>C	15.37:g.39882082A>C	ENSP00000260356:p.His668Pro	Somatic	0	80	0		0.521819055958222	123	38.5	77	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	65	29.35	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP							pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.H668P	ENST00000260356.5	37	c.2003	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337583	0.60963	.	.	ENSG00000137801	ENST00000260356	T	0.77489	-1.1	5.99	4.85	0.62838	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37857	N	0.001907	T	0.68220	0.2977	L	0.35288	1.05	0.51767	D	0.999937	B;B	0.16166	0.016;0.001	B;B	0.23852	0.049;0.003	T	0.60495	-0.7252	10	0.22706	T	0.39	-35.3274	13.3861	0.60797	0.8685:0.1315:0.0:0.0	.	583;668	B4E3J7;P07996	.;TSP1_HUMAN	P	668	ENSP00000260356:H668P	ENSP00000260356:H668P	H	+	2	0	THBS1	37669374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.171000	0.71926	1.058000	0.40530	0.533000	0.62120	CAC	-	smart_EG-like_dom,pfscan_EG-like_dom		0.602	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	protein_coding	OTTHUMT00000257831.2	A	NM_003246	-		39882082	1	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	SNP	1.000	C	C	39882082	A	C	39882082	3	2	235	1	0	0	0	0	1	0	0	0	15860	159	6	5	2049	5	THBS1	15	39882082	Missense_Mutation	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09		39882082	62649310	55	19074											
TGM7	116179	genome.wustl.edu	37	chr15	43568678	43568678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccccagccacagtgacgAagatgtccttgtagcctttg	11	12	0	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:43568678A>G	ENST00000452443.2	-	13	2112	c.2108T>C	c.(2107-2109)tTc>tCc	p.F703S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	703					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CACAGTGACGAAGATGTCCTT	0.602																																																	0								ENSG00000159495						135	116	123					15																	43568678		2202	4299	6501	TGM7	SO:0001583	missense	0			-	HGNC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.2108T>C	15.37:g.43568678A>G	ENSP00000389466:p.Phe703Ser	Somatic	0	61	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	64	38.46		Missense_Mutation	SNP							pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F703S	ENST00000452443.2	37	c.2108	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	A	8.969	0.972470	0.18736	.	.	ENSG00000159495	ENST00000452443	T	0.67523	-0.27	4.47	2.05	0.26809	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.517672	0.19039	N	0.124329	T	0.62612	0.2442	L	0.46157	1.445	0.09310	N	1	D	0.55172	0.97	P	0.54815	0.761	T	0.50684	-0.8799	10	0.19147	T	0.46	-0.2483	4.4299	0.11522	0.7245:0.0:0.0993:0.1762	.	703	Q96PF1	TGM7_HUMAN	S	703	ENSP00000389466:F703S	ENSP00000389466:F703S	F	-	2	0	TGM7	41355970	0.327000	0.24678	0.134000	0.22075	0.212000	0.24457	1.668000	0.37481	0.641000	0.30601	0.477000	0.44152	TTC	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.602	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	protein_coding	OTTHUMT00000432489.1	A	NM_052955	-		43568678	-1	no_errors	ENST00000452443	ensembl	human	known	74_37	missense	SNP	0.139	G	G	43568678	A	G	43568678	3	3	235	1	0	0	0	0	1	0	0	0	15842	246	9	5	28	5	TGM7	15	43568678	Missense_Mutation	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	3686596	43568678	58962714	56	19075											
LCMT2	9836	genome.wustl.edu	37	chr15	43622562	43622562	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggcgcgccgcgcccggAaccagcaacgcggcaaaggg	17	16	0	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:43622562A>T	ENST00000305641.5	-	1	241	c.126T>A	c.(124-126)gtT>gtA	p.V42V	ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	42					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCGCGCCCGGAACCAGCAACG	0.697																																																	0								ENSG00000168806						21	27	25					15																	43622562		2092	4093	6185	LCMT2	SO:0001819	synonymous_variant	0			-	HGNC	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.126T>A	15.37:g.43622562A>T		Somatic	0	39	0		0.521819055958222	12	14.29	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.05	Q4JFT6|Q96B55|Q9NR10	Silent	SNP							pfam_LCM_MeTrfase	p.V42	ENST00000305641.5	37	c.126	CCDS10094.1	15																																																																																			-	pfam_LCM_MeTrfase		0.697	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	protein_coding	OTTHUMT00000253205.1	A	NM_014793	-		43622562	-1	no_errors	ENST00000305641	ensembl	human	known	74_37	silent	SNP	0.003	T	T	43622562	A	T	43622562	2	4	235	1	0	0	0	0	0	0	0	1	8681	233	9	5		5	LCMT2	15	43622562	Silent	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	53884	43622562	58908830	57	19076											
A2BP1	54715	genome.wustl.edu	37	chr16	7637263	7637263	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcagcaatttggtaaaatCttagatgttgaaattatttt	7	3	1	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:7637263C>T	ENST00000550418.1	+	7	1417	c.429C>T	c.(427-429)atC>atT	p.I143I	RBFOX1_ENST00000311745.5_Silent_p.I163I|RBFOX1_ENST00000553186.1_Silent_p.I143I|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000355637.4_Silent_p.I163I|RBFOX1_ENST00000436368.2_Silent_p.I163I|RBFOX1_ENST00000547338.1_Silent_p.I143I|RBFOX1_ENST00000422070.4_Silent_p.I186I|RBFOX1_ENST00000535565.2_Silent_p.I131I|RBFOX1_ENST00000340209.4_Silent_p.I148I|RBFOX1_ENST00000547372.1_Silent_p.I186I	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	143	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGGTAAAATCTTAGATGTTG	0.284																																					Ovarian(157;934 2567 15163 39509)												0								ENSG00000078328						62	67	65					16																	7637263		2197	4294	6491	RBFOX1	SO:0001819	synonymous_variant	0			-	HGNC	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.429C>T	16.37:g.7637263C>T		Somatic	0	128	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	122	17.57	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP							pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.I186	ENST00000550418.1	37	c.558	CCDS55983.1	16																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom		0.284	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	protein_coding	OTTHUMT00000409492.2	C	NM_145891	-		7637263	1	no_errors	ENST00000547372	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7637263	C	T	7637263	2	4	235	1	0	0	0	0	0	0	0	1	3	903	32	2		2	A2BP1	16	7637263	Silent	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09		7637263	82717490	58	19077											
ADCY7	113	genome.wustl.edu	37	chr16	50342240	50342240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccctcctctccaggaCggcggcactgggtgtgtcct	11	15	2	0	rs148155774	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:50342240C>T	ENST00000394697.2	+	16	2193	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.T618M|ADCY7_ENST00000538642.1_Missense_Mutation_p.T618M|ADCY7_ENST00000254235.3_Missense_Mutation_p.T618M			P51828	ADCY7_HUMAN	adenylate cyclase 7	618					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.T618M(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CTCTCCAGGACGGCGGCACTG	0.647																																																	1	Substitution - Missense(1)	stomach(1)						ENSG00000121281	C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	107	97	101		1853	-8.7	0	16	dbSNP_134	101	0,8600		0,0,4300	yes	missense	ADCY7	NM_001114.3	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	benign	618/1081	50342240	2,12994	2198	4300	6498	ADCY7	SO:0001583	missense	0			-	HGNC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1853C>T	16.37:g.50342240C>T	ENSP00000378187:p.Thr618Met	Somatic	0	60	0		0.521819055958222	41	31.67	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	59	15.71	A0AVA6	Missense_Mutation	SNP							pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T618M	ENST00000394697.2	37	c.1853	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171413	0.21621	4.55E-4	0.0	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.82255	0.96;-1.59;-1.59	4.66	-8.7	0.00851	.	0.304362	0.22680	N	0.056946	T	0.55449	0.1921	N	0.11427	0.14	0.26445	N	0.975709	B;B	0.22541	0.071;0.055	B;B	0.23018	0.028;0.043	T	0.47114	-0.9142	10	0.27785	T	0.31	.	5.4786	0.16710	0.0938:0.5624:0.0944:0.2495	.	618;618	P51828;F5H4D1	ADCY7_HUMAN;.	M	618	ENSP00000445046:T618M;ENSP00000378187:T618M;ENSP00000254235:T618M	ENSP00000254235:T618M	T	+	2	0	ADCY7	48899741	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.317000	0.02707	-1.611000	0.01581	-0.266000	0.10368	ACG	-	NULL		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	protein_coding	OTTHUMT00000256877.3	C		rs148155774		50342240	1	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	SNP	0.000	T	T	50342240	C	T	50342240	3	4	235	1	0	0	0	0	1	0	0	0	299	536	19	1	1911	1	ADCY7	16	50342240	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	42704977	50342240	40012513	59	19078											
SLC12A3	6559	genome.wustl.edu	37	chr16	56914083	56914083	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacccactgatcggcttcttCggcaaaggctatggcaagaa	10	11	1	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:56914083C>T	ENST00000563236.1	+	12	1510	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	SLC12A3_ENST00000438926.2_Silent_p.F495F|SLC12A3_ENST00000566786.1_Silent_p.F494F|SLC12A3_ENST00000262502.5_Silent_p.F494F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	495					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)	TCGGCTTCTTCGGCAAAGGCT	0.617																																																	0			GRCh37	CM081805	SLC12A3	M		ENSG00000070915						47	38	41					16																	56914083		2198	4300	6498	SLC12A3	SO:0001819	synonymous_variant	0			-	HGNC		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.1485C>T	16.37:g.56914083C>T		Somatic	0	238	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	98	135	42.06	A8MSJ2|C9JNN9	Silent	SNP							pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F495	ENST00000563236.1	37	c.1485	CCDS58464.1	16																																																																																			-	pfam_AA-permease/SLC12A_dom,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS		0.617	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	C		-		56914083	1	no_errors	ENST00000438926	ensembl	human	known	74_37	silent	SNP	0.994	T	T	56914083	C	T	56914083	2	4	235	1	0	0	0	0	0	0	0	1	14392	883	31	1		1	SLC12A3	16	56914083	Silent	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	6571843	56914083	33440670	60	19079											
CNOT1	23019	genome.wustl.edu	37	chr16	58568140	58568140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgaacaaaggcatccaGgttgtgatagcacttggctc	12	9	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:58568140G>A	ENST00000317147.5	-	40	6138	c.5806C>T	c.(5806-5808)Ctg>Ttg	p.L1936L	CNOT1_ENST00000245138.4_Silent_p.L787L|CNOT1_ENST00000569240.1_Silent_p.L1931L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1936				L -> P (in Ref. 1; CAH18093). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGGCATCCAGGTTGTGATAG	0.493																																																	0								ENSG00000125107						185	137	153					16																	58568140		2198	4300	6498	CNOT1	SO:0001819	synonymous_variant	0			-	HGNC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5806C>T	16.37:g.58568140G>A		Somatic	0	95	0		0.521819055958222	132	12	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	70	9.09	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP							pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.L1936	ENST00000317147.5	37	c.5806	CCDS10799.1	16																																																																																			-	NULL		0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	G	NM_016284	-		58568140	-1	no_errors	ENST00000317147	ensembl	human	known	74_37	silent	SNP	1.000	A	A	58568140	G	A	58568140	2	1	235	1	0	0	0	0	0	0	0	1	3619	991	35	2		2	CNOT1	16	58568140	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	1654057	58568140	31786613	61	19080											
SLC12A4	6560	genome.wustl.edu	37	chr16	67981265	67981265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgtgaggaggcccctcctCcagccgcaacagcgcgtagc	14	15	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:67981265C>T	ENST00000316341.3	-	16	2181	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	SLC12A4_ENST00000338335.3_Missense_Mutation_p.E681K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E675K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E681K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E633K|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E683K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E650K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	681					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCCCTCCTCCAGCCGCAAC	0.672																																																	0								ENSG00000124067						31	39	36					16																	67981265		2193	4299	6492	SLC12A4	SO:0001583	missense	0			-	HGNC		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2041G>A	16.37:g.67981265C>T	ENSP00000318557:p.Glu681Lys	Somatic	0	12	0		0.521819055958222	25	34.21	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.E683K	ENST00000316341.3	37	c.2047	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987437	0.93106	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96	5.76	5.76	0.90799	Amino acid permease domain (1);	0.046590	0.85682	N	0.000000	D	0.98833	0.9606	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.89917	0.984;1.0;0.996;0.999;0.999;0.998	D;D;D;D;D;D	0.81914	0.939;0.995;0.954;0.979;0.979;0.978	D	0.99827	1.1051	10	0.66056	D	0.02	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	683;681;650;675;681;681	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	683;650;675;681;681	ENSP00000395983:E683K;ENSP00000438334:E650K;ENSP00000445962:E675K;ENSP00000343374:E681K;ENSP00000318557:E681K	ENSP00000318557:E681K	E	-	1	0	SLC12A4	66538766	1.000000	0.71417	0.977000	0.42913	0.245000	0.25701	7.768000	0.85345	2.732000	0.93576	0.655000	0.94253	GAG	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.672	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	protein_coding	OTTHUMT00000268864.4	C	NM_005072	-		67981265	-1	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	SNP	1.000	T	T	67981265	C	T	67981265	3	4	235	1	0	0	0	0	1	0	0	0	14393	864	30	2	1252	2	SLC12A4	16	67981265	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	9413125	67981265	22373488	62	19081											
C17orf74	201243	genome.wustl.edu	37	chr17	7330144	7330144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgagcagtgggcctcGtctccaccacctccccaccg	11	18	1	1	rs374298397		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr17:7330144G>A	ENST00000333870.3	+	3	908	c.834G>A	c.(832-834)tcG>tcA	p.S278S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	278						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGTGGGCCTCGTCTCCACCAC	0.657																																																	0								ENSG00000184560			1,4161		0,1,2080	36	39	38		834	-9.2	0	17		38	0,8434		0,0,4217	no	coding-synonymous	C17orf74	NM_175734.4		0,1,6297	AA,AG,GG		0.0,0.024,0.0079		278/502	7330144	1,12595	2081	4217	6298	C17orf74	SO:0001819	synonymous_variant	0			-	HGNC	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.834G>A	17.37:g.7330144G>A		Somatic	0	93	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	87	18.69		Silent	SNP							NULL	p.S278	ENST00000333870.3	37	c.834	CCDS42255.1	17																																																																																			-	NULL		0.657	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf74	protein_coding	OTTHUMT00000440933.2	G	NM_175734	-		7330144	1	no_errors	ENST00000333870	ensembl	human	known	74_37	silent	SNP	0.000	A	A	7330144	G	A	7330144	2	1	235	1	0	0	0	0	0	0	0	1	1881	1132	40	1		1	C17orf74	17	7330144	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		7330144	73865066	63	19082											
MYH1	4619	genome.wustl.edu	37	chr17	10411236	10411236	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtctggaaagaagaAcccttcttcttaccaccttt	6	12	3	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr17:10411236A>T	ENST00000226207.5	-	17	2029	c.1935T>A	c.(1933-1935)ggT>ggA	p.G645G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	645	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGAAAGAAGAACCCTTCTTCT	0.403																																																	0								ENSG00000109061						72	80	77					17																	10411236		2203	4300	6503	MYH1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1935T>A	17.37:g.10411236A>T		Somatic	0	147	0		0.521819055958222	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	237	13.45	Q14CA4|Q9Y622	Silent	SNP							pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G645	ENST00000226207.5	37	c.1935	CCDS11155.1	17																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.403	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	A	NM_005963	-		10411236	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	silent	SNP	1.000	T	T	10411236	A	T	10411236	2	4	235	1	0	0	0	0	0	0	0	1	10031	30	2	5		5	MYH1	17	10411236	Silent	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	3081092	10411236	70783974	64	19083											
COLEC12	81035	genome.wustl.edu	37	chr18	346619	346619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctcaaagagctggaagcGttcctccagttggttgaact	11	10	1	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr18:346619G>A	ENST00000400256.3	-	5	1210	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	335					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGCTGGAAGCGTTCCTCCAGT	0.468																																																	0								ENSG00000158270						165	133	144					18																	346619		2203	4300	6503	COLEC12	SO:0001583	missense	0			-	HGNC	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1003C>T	18.37:g.346619G>A	ENSP00000383115:p.Arg335Cys	Somatic	0	108	0		0.521819055958222	85	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	195	10.55	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP							pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R335C	ENST00000400256.3	37	c.1003	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580056	0.46006	.	.	ENSG00000158270	ENST00000400256	T	0.80994	-1.44	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	P	0.61275	0.886	D	0.85102	0.0958	10	0.87932	D	0	-9.732	15.8302	0.78743	0.0:0.0:0.8561:0.1439	.	335	Q5KU26	COL12_HUMAN	C	335	ENSP00000383115:R335C	ENSP00000383115:R335C	R	-	1	0	COLEC12	336619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.113000	0.71553	2.778000	0.95560	0.655000	0.94253	CGC	-	NULL		0.468	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	protein_coding	OTTHUMT00000440746.1	G		-		346619	-1	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	346619	G	A	346619	3	1	235	1	0	0	0	0	1	0	0	0	3714	1145	40	1	1249	1	COLEC12	18	346619	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		346619	77730629	65	19084											
NOL4	8715	genome.wustl.edu	37	chr18	31538220	31538220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattaaaagctttcagccGctcggcttcaacgccgtctg	8	14	3	0	rs141080481	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr18:31538220G>A	ENST00000261592.5	-	7	1516	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	NOL4_ENST00000269185.4_Missense_Mutation_p.R293W|NOL4_ENST00000589544.1_Missense_Mutation_p.R407W|NOL4_ENST00000535384.1_Missense_Mutation_p.R122W|NOL4_ENST00000538587.1_Missense_Mutation_p.R333W|NOL4_ENST00000535475.1_Missense_Mutation_p.R252W	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	407						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R407W(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTTTCAGCCGCTCGGCTTCA	0.453																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000101746						151	131	138					18																	31538220		2203	4300	6503	NOL4	SO:0001583	missense	0			-	HGNC	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1219C>T	18.37:g.31538220G>A	ENSP00000261592:p.Arg407Trp	Somatic	0	49	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP							NULL	p.R407W	ENST00000261592.5	37	c.1219	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821091	0.50633	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	T;T	0.80123	-1.34;-1.34	5.5	1.22	0.21188	.	0.000000	0.64402	D	0.000007	D	0.87791	0.6266	M	0.70595	2.14	0.46203	D	0.998926	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;0.997;0.997;0.999;0.998;0.997;0.983;0.997	D	0.88114	0.2827	10	0.87932	D	0	-15.2256	14.6743	0.68967	0.0:0.0:0.5085:0.4915	.	293;156;122;333;407;122;407;252	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	W	407;293;156;122;252;333	ENSP00000445733:R122W;ENSP00000443472:R333W	ENSP00000261592:R407W	R	-	1	2	NOL4	29792218	1.000000	0.71417	0.989000	0.46669	0.939000	0.58152	2.498000	0.45363	0.214000	0.20742	0.557000	0.71058	CGG	-	NULL		0.453	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	G	NM_003787	-		31538220	-1	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	SNP	1.000	A	A	31538220	G	A	31538220	3	1	235	1	0	0	0	0	1	0	0	0	10526	1086	38	1	717	1	NOL4	18	31538220	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	31191601	31538220	46539028	66	19085											
KIAA0427	9811	genome.wustl.edu	37	chr18	46163008	46163008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggactgcagcgaaccGctggacagcagctgttcctt	12	13	0	0	rs577092756	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr18:46163008G>A	ENST00000256413.3	+	3	499	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CTIF_ENST00000382998.4_Silent_p.P68P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	68	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCAGCGAACCGCTGGACAGCA	0.627													G|||	2	0.000399361	0	0.0029	5008	,	,		17984	0		0	False		,,,				2504	0																0								ENSG00000134030						30	27	28					18																	46163008		2203	4300	6503	CTIF	SO:0001819	synonymous_variant	0			-	HGNC	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.204G>A	18.37:g.46163008G>A		Somatic	0	85	0		0.521819055958222	16	15.79	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.64	B3KTR8|Q8IVD5	Silent	SNP							pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.P68	ENST00000256413.3	37	c.204	CCDS11935.1	18																																																																																			-	NULL		0.627	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	protein_coding	OTTHUMT00000255907.1	G	NM_014772	-		46163008	1	no_errors	ENST00000382998	ensembl	human	known	74_37	silent	SNP	0.918	A	A	46163008	G	A	46163008	2	1	235	1	0	0	0	0	0	0	0	1	8178	1074	38	1		1	KIAA0427	18	46163008	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	14624788	46163008	31914240	67	19086											
MAST1	22983	genome.wustl.edu	37	chr19	12975906	12975906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagctcacagatttcggcCtctccaagatggggctcatg	10	12	4	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:12975906C>T	ENST00000251472.4	+	14	1591	c.1552C>T	c.(1552-1554)Ctc>Ttc	p.L518F		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGATTTCGGCCTCTCCAAGAT	0.572																																																	0								ENSG00000105613						128	109	116					19																	12975906		2203	4300	6503	MAST1	SO:0001583	missense	0			-	HGNC	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1552C>T	19.37:g.12975906C>T	ENSP00000251472:p.Leu518Phe	Somatic	0	29	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00		Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.L518F	ENST00000251472.4	37	c.1552	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629919	0.46944	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.34072	1.38	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082187	0.49305	N	0.000141	T	0.56455	0.1986	L	0.58669	1.825	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.60357	-0.7279	10	0.87932	D	0	-34.0227	15.363	0.74496	0.0:1.0:0.0:0.0	.	518	Q9Y2H9	MAST1_HUMAN	F	518	ENSP00000251472:L518F	ENSP00000251472:L518F	L	+	1	0	MAST1	12836906	0.999000	0.42202	0.977000	0.42913	0.343000	0.28985	4.020000	0.57189	2.314000	0.78098	0.561000	0.74099	CTC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	protein_coding	OTTHUMT00000451733.2	C	NM_014975	-		12975906	1	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	SNP	0.997	T	T	12975906	C	T	12975906	3	4	235	1	0	0	0	0	1	0	0	0	9326	681	24	2	1606	2	MAST1	19	12975906	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09		12975906	46153077	68	19087											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38633272	38633272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggggccgacagagtccCtccctaccgacagccttctg	11	16	1	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:38633272C>T	ENST00000222345.6	+	12	3964	c.3455C>T	c.(3454-3456)cCt>cTt	p.P1152L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1152					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACAGAGTCCCTCCCTACCGA	0.582											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000105738						217	209	211					19																	38633272		2203	4300	6503	SIPA1L3	SO:0001583	missense	0			-	HGNC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3455C>T	19.37:g.38633272C>T	ENSP00000222345:p.Pro1152Leu	Somatic	0	88	0	879	0.521819055958222	78	57.61	106	WXS	Illumina HiSeq 2500	Phase_IV	tier1	83	114	42.13	Q2TV87	Missense_Mutation	SNP							pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P1152L	ENST00000222345.6	37	c.3455	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900581	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.75367	-0.93	4.82	3.74	0.42951	.	0.513030	0.19730	N	0.107362	T	0.65626	0.2709	L	0.52905	1.665	0.50467	D	0.999878	B	0.10296	0.003	B	0.06405	0.002	T	0.59059	-0.7525	10	0.20519	T	0.43	-8.2667	10.0247	0.42063	0.3489:0.6511:0.0:0.0	.	1152	O60292	SI1L3_HUMAN	L	1152	ENSP00000222345:P1152L	ENSP00000222345:P1152L	P	+	2	0	SIPA1L3	43325112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.581000	0.36558	2.506000	0.84524	0.563000	0.77884	CCT	-	NULL		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	protein_coding	OTTHUMT00000156294.2	C	XM_032278	-		38633272	1	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	SNP	1.000	T	T	38633272	C	T	38633272	3	4	235	1	0	0	0	0	1	0	0	0	14339	681	24	2	3493	2	SIPA1L3	19	38633272	Missense_Mutation	SNP	C	TCGA-X6-A8C3-01A-11D-A36J-09	25657366	38633272	20495711	69	19088											
ZNF534	147658	genome.wustl.edu	37	chr19	52941698	52941698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaaccttatgattgtAaggaatgtggcaaggtcttc	12	5	1	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:52941698A>G	ENST00000332323.6	+	4	1085	c.1024A>G	c.(1024-1026)Aag>Gag	p.K342E	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.K329E	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	342					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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TTATGATTGTAAGGAATGTGG	0.418																																																	0								ENSG00000198633						59	53	55					19																	52941698		1568	3582	5150	ZNF534	SO:0001583	missense	0			-	HGNC	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1024A>G	19.37:g.52941698A>G	ENSP00000327538:p.Lys342Glu	Somatic	0	66	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	95	9.43	Q76KX9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K342E	ENST00000332323.6	37	c.1024	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047720	0.19827	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.08370	3.1;3.1	1.82	-0.687	0.11320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.04355	-0.22	0.09310	N	1	B;B	0.18461	0.009;0.028	B;B	0.18263	0.015;0.021	T	0.45279	-0.9272	9	0.25751	T	0.34	.	3.4954	0.07653	0.5098:0.2026:0.2876:0.0	.	329;342	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	E	342;329;341	ENSP00000327538:K342E;ENSP00000391358:K329E	ENSP00000327538:K342E	K	+	1	0	ZNF534	57633510	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-5.268000	0.00136	-0.483000	0.06772	-0.456000	0.05471	AAG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	protein_coding	OTTHUMT00000460877.1	A	NM_182512	-		52941698	1	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	SNP	0.001	G	G	52941698	A	G	52941698	3	3	235	1	0	0	0	0	1	0	0	0	17980	363	13	5	1038	5	ZNF534	19	52941698	Missense_Mutation	SNP	A	TCGA-X6-A8C3-01A-11D-A36J-09	14308426	52941698	6187285	70	19089											
NLRP2	55655	genome.wustl.edu	37	chr19	55494429	55494429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgctgagcctcctggccGcgcagggcctgtgggcgcag	18	14	0	1	rs200762489		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:55494429G>A	ENST00000543010.1	+	6	1506	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	NLRP2_ENST00000537859.1_Missense_Mutation_p.A433T|NLRP2_ENST00000448584.2_Missense_Mutation_p.A455T|NLRP2_ENST00000427260.2_Missense_Mutation_p.A432T|NLRP2_ENST00000339757.7_Missense_Mutation_p.A433T|NLRP2_ENST00000391721.4_Missense_Mutation_p.A431T|NLRP2_ENST00000263437.6_Missense_Mutation_p.A452T|NLRP2_ENST00000538819.1_Missense_Mutation_p.A431T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	455	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTCCTGGCCGCGCAGGGCCT	0.697													G|||	1	0.000199681	8e-04	0	5008	,	,		15207	0		0	False		,,,				2504	0																0								ENSG00000022556	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4382		0,0,2191	21	21	21		1363,1297,1294,1363	-0.4	0	19		21	2,8554		0,2,4276	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	58,58,58,58	0,2,6467	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging,probably-damaging,probably-damaging,probably-damaging	455/1063,433/1041,432/1040,455/1063	55494429	2,12936	2191	4278	6469	NLRP2	SO:0001583	missense	0			-	HGNC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1363G>A	19.37:g.55494429G>A	ENSP00000445135:p.Ala455Thr	Somatic	0	35	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A455T	ENST00000543010.1	37	c.1363	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797658	0.50208	0.0	2.34E-4	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75821	-0.94;-0.86;-0.87;-0.94;-0.87;-0.97;-0.86;-0.94	1.9	-0.359	0.12571	.	0.555794	0.13592	N	0.376546	T	0.76997	0.4066	M	0.73319	2.225	0.09310	N	1	D;D;D;D;D	0.64830	0.973;0.994;0.99;0.994;0.99	P;P;P;P;P	0.57960	0.545;0.83;0.68;0.83;0.68	T	0.64360	-0.6426	10	0.41790	T	0.15	.	4.0455	0.09771	0.1477:0.0:0.6222:0.2301	.	432;433;452;431;455	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	T	455;431;433;455;433;432;431;452	ENSP00000445135:A455T;ENSP00000375601:A431T;ENSP00000344074:A433T;ENSP00000409370:A455T;ENSP00000440601:A433T;ENSP00000402474:A432T;ENSP00000441133:A431T;ENSP00000263437:A452T	ENSP00000263437:A452T	A	+	1	0	NLRP2	60186241	0.209000	0.23505	0.000000	0.03702	0.021000	0.10359	2.197000	0.42696	-0.005000	0.14395	0.556000	0.70494	GCG	-	NULL		0.697	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	protein_coding	OTTHUMT00000396152.1	G	NM_017852	rs200762489		55494429	1	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	SNP	0.000	A	A	55494429	G	A	55494429	3	1	235	1	0	0	0	0	1	0	0	0	10479	1087	38	1	1381	1	NLRP2	19	55494429	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	2552731	55494429	3634554	71	19090											
FAM65C	140876	genome.wustl.edu	37	chr20	49208924	49208924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactgcaccagccaggcgaGcgctggccgccctgcacacc	12	18	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr20:49208924G>T	ENST00000327979.2	-	19	2933	c.2522C>A	c.(2521-2523)gCt>gAt	p.A841D	FAM65C_ENST00000462842.1_5'Flank|FAM65C_ENST00000045083.2_Missense_Mutation_p.A841D|FAM65C_ENST00000535356.1_Missense_Mutation_p.A845D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	841										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCAGGCGAGCGCTGGCCGC	0.657																																																	0								ENSG00000042062						38	42	41					20																	49208924		2018	4153	6171	FAM65C	SO:0001583	missense	0			-	HGNC	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2522C>A	20.37:g.49208924G>T	ENSP00000332663:p.Ala841Asp	Somatic	0	27	0		0.521819055958222	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP							superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.A845D	ENST00000327979.2	37	c.2534	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	G	1.224	-0.625949	0.03610	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.78595	-1.19;-1.19;-1.19	4.81	2.8	0.32819	.	0.987152	0.08223	U	0.978795	T	0.63438	0.2511	L	0.39633	1.23	0.09310	N	1	B;B	0.30973	0.013;0.302	B;B	0.24541	0.042;0.054	T	0.46148	-0.9212	10	0.12103	T	0.63	0.6653	4.9454	0.13987	0.238:0.0:0.615:0.147	.	845;841	F5H0X2;Q96MK2	.;FA65C_HUMAN	D	841;841;845	ENSP00000332663:A841D;ENSP00000045083:A841D;ENSP00000439802:A845D	ENSP00000045083:A841D	A	-	2	0	FAM65C	48642331	0.001000	0.12720	0.001000	0.08648	0.082000	0.17680	1.109000	0.31135	0.422000	0.26005	0.462000	0.41574	GCT	-	superfamily_ARM-type_fold		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	protein_coding	OTTHUMT00000257962.1	G		-		49208924	-1	no_errors	ENST00000535356	ensembl	human	known	74_37	missense	SNP	0.000	T	T	49208924	G	T	49208924	3	4	235	1	0	0	0	0	1	0	0	0	5603	971	34	3	334	3	FAM65C	20	49208924	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		49208924	13816596	72	19091											
KLHL22	84861	genome.wustl.edu	37	chr22	20825717	20825717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgtatatgaaatgtaGgatttggcacatagcattgt	13	3	0	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr22:20825717G>T	ENST00000328879.4	-	3	469	c.313C>A	c.(313-315)Cta>Ata	p.L105I	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	105	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATGAAATGTAGGATTTGGCAC	0.507																																																	0								ENSG00000099910						162	141	148					22																	20825717		2203	4300	6503	KLHL22	SO:0001583	missense	0			-	HGNC		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.313C>A	22.37:g.20825717G>T	ENSP00000331682:p.Leu105Ile	Somatic	0	66	0		0.521819055958222	71	7.79	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	77	10.47	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L105I	ENST00000328879.4	37	c.313	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	G	3.624	-0.077016	0.07184	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.3	4.29	0.51040	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.154073	0.44097	D	0.000495	T	0.68449	0.3002	L	0.37466	1.105	0.80722	D	1	B	0.31769	0.339	B	0.38296	0.27	T	0.61038	-0.7143	10	0.02654	T	1	.	6.9801	0.24698	0.0885:0.0:0.7403:0.1712	.	105	Q53GT1	KLH22_HUMAN	I	105;28;137;105;139;105	ENSP00000331682:L105I;ENSP00000400095:L28I;ENSP00000403999:L137I;ENSP00000398616:L105I;ENSP00000397882:L139I;ENSP00000409092:L105I	ENSP00000331682:L105I	L	-	1	2	KLHL22	19155717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.086000	0.50159	1.243000	0.43853	0.650000	0.86243	CTA	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.507	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	protein_coding	OTTHUMT00000320045.2	G	NM_032775	-		20825717	-1	no_errors	ENST00000328879	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20825717	G	T	20825717	3	4	235	1	0	0	0	0	1	0	0	0	8379	991	35	3	1611	3	KLHL22	22	20825717	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		20825717	30478849	73	19092											
MAP3K15	389840	genome.wustl.edu	37	chrX	19449651	19449651	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcagaacatgtcgggGcccgggtgatcacagctctg	14	12	2	2			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:19449651G>T	ENST00000338883.4	-	7	1070	c.1071C>A	c.(1069-1071)ggC>ggA	p.G357G	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.G189G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	357							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ACATGTCGGGGCCCGGGTGAT	0.517																																																	0								ENSG00000180815						77	69	71					X																	19449651		1568	3582	5150	MAP3K15	SO:0001819	synonymous_variant	0			-	HGNC	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1071C>A	X.37:g.19449651G>T		Somatic	0	68	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G357	ENST00000338883.4	37	c.1071		X																																																																																			-	NULL		0.517	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	protein_coding		G	NM_001001671	-		19449651	-1	no_errors	ENST00000338883	ensembl	human	known	74_37	silent	SNP	0.686	T	T	19449651	G	T	19449651	2	4	235	1	0	0	0	0	0	0	0	1	9251	1190	42	3		3	MAP3K15	23	19449651	Silent	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09		19449651	135820909	74	19093											
DMD	1756	genome.wustl.edu	37	chrX	31200986	31200986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagtctcatccagtctagGaagagggccgcttcgatctc	10	13	3	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:31200986G>T	ENST00000357033.4	-	68	10049	c.9843C>A	c.(9841-9843)ttC>ttA	p.F3281L	DMD_ENST00000378677.2_Missense_Mutation_p.F3277L|DMD_ENST00000378707.3_Missense_Mutation_p.F821L|DMD_ENST00000378680.2_Missense_Mutation_p.F213L|DMD_ENST00000361471.4_Missense_Mutation_p.F213L|DMD_ENST00000343523.2_Missense_Mutation_p.F821L|DMD_ENST00000541735.1_Missense_Mutation_p.F821L|DMD_ENST00000474231.1_Missense_Mutation_p.F821L|DMD_ENST00000359836.1_Missense_Mutation_p.F821L|DMD_ENST00000378723.3_Missense_Mutation_p.F213L|DMD_ENST00000378702.4_Missense_Mutation_p.F213L	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	3281	Interaction with SYNM. {ECO:0000250}.				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)				TCCAGTCTAGGAAGAGGGCCG	0.527																																																	0								ENSG00000198947						88	66	74					X																	31200986		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	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.9843C>A	X.37:g.31200986G>T	ENSP00000354923:p.Phe3281Leu	Somatic	0	71	0		0.521819055958222	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	54	38.64	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.F3281L	ENST00000357033.4	37	c.9843	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257089|4.257089	0.80246|0.80246	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.81247|.	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47|.	5.41|5.41	3.64|3.64	0.41730|0.41730	EF-hand domain, type 2 (1);|.	0.000000|.	0.39020|.	U|.	0.001495|.	T|T	0.78432|0.78432	0.4282|0.4282	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.989;0.983;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.987;1.0;1.0;0.998|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.975;0.94;0.994;0.996;0.996;0.996;0.999;0.999;0.999;0.997;0.995;0.996;0.971;1.0;0.999;0.994|.	T|T	0.78823|0.78823	-0.2052|-0.2052	10|5	0.87932|.	D|.	0|.	.|.	7.6949|7.6949	0.28590|0.28590	0.3273:0.0:0.6727:0.0|0.3273:0.0:0.6727:0.0	.|.	213;3273;3281;3277;1940;1937;821;821;821;821;821;3158;213;213;213;213|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	L|T	3273;1940;1937;213;977;3277;3281;821;821;3281;3158;821;821;213;821;213;213;71|1010	ENSP00000367997:F213L;ENSP00000350765:F977L;ENSP00000367948:F3277L;ENSP00000354923:F3281L;ENSP00000352894:F821L;ENSP00000340057:F821L;ENSP00000367979:F821L;ENSP00000444119:F821L;ENSP00000367974:F213L;ENSP00000417123:F821L;ENSP00000354464:F213L;ENSP00000367951:F213L;ENSP00000367977:F71L|.	ENSP00000340057:F821L|.	F|P	-|-	3|1	2|0	DMD|DMD	31110907|31110907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.009000|2.009000	0.40903|0.40903	0.639000|0.639000	0.30564|0.30564	0.600000|0.600000	0.82982|0.82982	TTC|CCT	-	pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin		0.527	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006	-		31200986	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31200986	G	T	31200986	3	4	235	1	0	0	0	0	1	0	0	0	4582	1165	41	3	1352	3	DMD	23	31200986	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	11751335	31200986	124069574	75	19094											
CLDN2	9075	genome.wustl.edu	37	chrX	106171471	106171471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgccatggcctctcttGgcctccaacttgtgggctac	11	14	2	0			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:106171471G>A	ENST00000541806.1	+	2	532	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G5S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G5S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	5					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						GGCCTCTCTTGGCCTCCAACT	0.547																																																	0								ENSG00000165376						69	60	63					X																	106171471		2203	4300	6503	CLDN2	SO:0001583	missense	0			-	HGNC	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.13G>A	X.37:g.106171471G>A	ENSP00000441283:p.Gly5Ser	Somatic	0	60	0		0.521819055958222	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	B2R6B9	Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.G5S	ENST00000541806.1	37	c.13	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979460	0.53827	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89270	-2.49;-2.49;-2.49	5.61	3.84	0.44239	.	0.049621	0.85682	D	0.000000	D	0.88588	0.6477	M	0.83774	2.66	0.47659	D	0.999488	B	0.09022	0.002	B	0.21151	0.033	D	0.83751	0.0209	10	0.56958	D	0.05	.	9.2028	0.37270	0.1809:0.0:0.8191:0.0	.	5	P57739	CLD2_HUMAN	S	5	ENSP00000441283:G5S;ENSP00000443230:G5S;ENSP00000336571:G5S	ENSP00000336571:G5S	G	+	1	0	CLDN2	106058127	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	4.468000	0.60162	0.538000	0.28769	0.600000	0.82982	GGC	-	pfam_PMP22/EMP/MP20/Claudin		0.547	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	protein_coding	OTTHUMT00000057815.1	G		-		106171471	1	no_errors	ENST00000336803	ensembl	human	known	74_37	missense	SNP	1.000	A	A	106171471	G	A	106171471	3	1	235	1	0	0	0	0	1	0	0	0	3483	1348	47	2	15	2	CLDN2	23	106171471	Missense_Mutation	SNP	G	TCGA-X6-A8C3-01A-11D-A36J-09	74970485	106171471	49099089	76	19095											
COL4A5	1287	genome.wustl.edu	37	chrX	107924118	107924118	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtaccttctgtgcaggcaTgaaaggacccagtggagtac	12	9	1	1			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:107924118T>A	ENST00000361603.2	+	44	4245	c.4001T>A	c.(4000-4002)aTg>aAg	p.M1334K	COL4A5_ENST00000328300.6_Missense_Mutation_p.M1340K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1334	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGTGCAGGCATGAAAGGACCC	0.478									Alport syndrome with Diffuse Leiomyomatosis																																								0								ENSG00000188153						141	128	132					X																	107924118		2203	4299	6502	COL4A5	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4001T>A	X.37:g.107924118T>A	ENSP00000354505:p.Met1334Lys	Somatic	0	156	0		0.521819055958222	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	108	33.74	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP							pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.M1340K	ENST00000361603.2	37	c.4019	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	T	2.787	-0.252200	0.05829	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94000	-3.33;-3.21	5.19	5.19	0.71726	.	0.153282	0.64402	D	0.000012	D	0.85457	0.5701	N	0.11313	0.125	0.38896	D	0.957223	B;B	0.30889	0.299;0.165	B;B	0.35859	0.212;0.064	T	0.82694	-0.0330	10	0.07030	T	0.85	.	14.1569	0.65424	0.0:0.0:0.0:1.0	.	1337;1334	E7EVY4;P29400	.;CO4A5_HUMAN	K	1340;1334;1340	ENSP00000331902:M1340K;ENSP00000354505:M1334K	ENSP00000331902:M1340K	M	+	2	0	COL4A5	107810774	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	3.408000	0.52651	1.721000	0.51461	0.350000	0.21858	ATG	-	pfam_Collagen		0.478	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	protein_coding	OTTHUMT00000057880.2	T		-		107924118	1	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	SNP	0.999	A	A	107924118	T	A	107924118	3	1	235	1	0	0	0	0	1	0	0	0	3696	1464	51	5	4186	5	COL4A5	23	107924118	Missense_Mutation	SNP	T	TCGA-X6-A8C3-01A-11D-A36J-09	1752647	107924118	47346442	77	19096											
PTCH2	8643	genome.wustl.edu	37	chr1	45296673	45296673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacccagctcctccagcagCtgctctggatccaggttggt	12	14	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:45296673C>G	ENST00000372192.3	-	6	790	c.660G>C	c.(658-660)caG>caC	p.Q220H	PTCH2_ENST00000447098.2_Missense_Mutation_p.Q220H	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	220					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCTCCAGCAGCTGCTCTGGAT	0.632									Basal Cell Nevus syndrome																																								0								ENSG00000117425						30	31	31					1																	45296673		2203	4300	6503	PTCH2	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	-	HGNC	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.660G>C	1.37:g.45296673C>G	ENSP00000361266:p.Gln220His	Somatic	0	100	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	20	70.59	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.Q220H	ENST00000372192.3	37	c.660	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819675	0.71028	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92647	-3.07;-3.08	4.83	2.92	0.33932	.	0.000000	0.47852	D	0.000203	D	0.91713	0.7380	L	0.54323	1.7	0.38946	D	0.958242	D	0.60575	0.988	P	0.53146	0.719	D	0.91474	0.5199	10	0.51188	T	0.08	-20.2067	10.5776	0.45235	0.0:0.8347:0.0:0.1653	.	220	Q9Y6C5	PTC2_HUMAN	H	220	ENSP00000389703:Q220H;ENSP00000361266:Q220H	ENSP00000361266:Q220H	Q	-	3	2	PTCH2	45069260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.057000	0.41365	1.263000	0.44181	0.655000	0.94253	CAG	-	tigrfam_TM_rcpt_patched		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	protein_coding	OTTHUMT00000023428.4	C	NM_003738	-		45296673	-1	no_errors	ENST00000372192	ensembl	human	known	74_37	missense	SNP	1.000	G	G	45296673	C	G	45296673	3	3	236	1	0	0	0	0	1	0	0	0	12736	796	28	4	3039	4	PTCH2	1	45296673	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		45296673	203953948	1	19097											
WARS2	10352	genome.wustl.edu	37	chr1	119575715	119575715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacggccagcttgtagCgagcagtgttcatgcccgcg	13	14	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:119575715C>T	ENST00000235521.4	-	6	928	c.902G>A	c.(901-903)cGc>cAc	p.R301H	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.R207H	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	301					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAGCTTGTAGCGAGCAGTGTT	0.577																																																	0								ENSG00000116874						94	95	94					1																	119575715		2203	4300	6503	WARS2	SO:0001583	missense	0			-	HGNC	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.902G>A	1.37:g.119575715C>T	ENSP00000235521:p.Arg301His	Somatic	0	53	0		0.635208746303704	30	40	20	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	45	34.78	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP							pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.R301H	ENST00000235521.4	37	c.902	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	C	7.024	0.559247	0.13436	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.51071	0.72;0.72	5.87	-2.51	0.06365	.	1.085230	0.06719	N	0.774587	T	0.06142	0.0159	N	0.00569	-1.365	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.005	T	0.31503	-0.9941	10	0.27785	T	0.31	-0.7117	14.9993	0.71459	0.0:0.3651:0.0:0.6349	.	244;301	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	H	301;207	ENSP00000235521:R301H;ENSP00000438807:R207H	ENSP00000235521:R301H	R	-	2	0	WARS2	119377238	0.927000	0.31430	0.070000	0.20053	0.315000	0.28087	0.086000	0.14935	-0.782000	0.04541	-1.731000	0.00696	CGC	-	pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase		0.577	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	protein_coding	OTTHUMT00000034362.1	C	NM_015836	-		119575715	-1	no_errors	ENST00000235521	ensembl	human	known	74_37	missense	SNP	0.088	T	T	119575715	C	T	119575715	3	4	236	1	0	0	0	0	1	0	0	0	17257	768	27	1	184	1	WARS2	1	119575715	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	74279042	119575715	129674906	2	19098											
RPTN	126638	genome.wustl.edu	37	chr1	152127868	152127868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtctgaccataatgAtagctctggccttgtctgtc	9	11	4	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:152127868A>G	ENST00000316073.3	-	3	1771	c.1707T>C	c.(1705-1707)taT>taC	p.Y569Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	569	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GACCATAATGATAGCTCTGGC	0.488																																																	0								ENSG00000215853						574	513	531					1																	152127868		1568	3582	5150	RPTN	SO:0001819	synonymous_variant	0			-	HGNC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1707T>C	1.37:g.152127868A>G		Somatic	1	227	0.44		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	218	10.66	B7ZBZ3	Silent	SNP							pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Y569	ENST00000316073.3	37	c.1707	CCDS41397.1	1																																																																																			-	NULL		0.488	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	protein_coding	OTTHUMT00000333867.1	A	XM_371312	-		152127868	-1	no_errors	ENST00000316073	ensembl	human	known	74_37	silent	SNP	0.000	G	G	152127868	A	G	152127868	2	3	236	1	0	0	0	0	0	0	0	1	13672	340	12	5		5	RPTN	1	152127868	Silent	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	32552153	152127868	97122753	3	19099											
FLG	2312	genome.wustl.edu	37	chr1	152282747	152282747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtttgcctgcttgcacTtctgggtcctgactgcccat	9	13	2	1	rs536230632		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:152282747T>G	ENST00000368799.1	-	3	4650	c.4615A>C	c.(4615-4617)Agt>Cgt	p.S1539R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1539	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.S1539R(2)		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)			CTGCTTGCACTTCTGGGTCCT	0.572									Ichthyosis				T|||	1	0.000199681	0	0	5008	,	,		20676	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(1)|lung(1)						ENSG00000143631						303	293	296					1																	152282747		2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	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.4615A>C	1.37:g.152282747T>G	ENSP00000357789:p.Ser1539Arg	Somatic	0	151	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	118	18.49	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP							pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1539R	ENST00000368799.1	37	c.4615	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	9.888	1.203497	0.22121	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.67	-0.792	0.10925	.	.	.	.	.	T	0.00784	0.0026	M	0.75447	2.3	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.42050	-0.9474	9	0.25106	T	0.35	.	5.1967	0.15243	0.0:0.4182:0.0:0.5818	.	1539	P20930	FILA_HUMAN	R	1539	ENSP00000357789:S1539R	ENSP00000357789:S1539R	S	-	1	0	FLG	150549371	0.003000	0.15002	0.000000	0.03702	0.169000	0.22640	0.226000	0.17776	-0.281000	0.09141	0.397000	0.26171	AGT	-	NULL		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	T	NM_002016	-		152282747	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	G	G	152282747	T	G	152282747	3	3	236	1	0	0	0	0	1	0	0	0	5924	1609	56	5	7574	5	FLG	1	152282747	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	154879	152282747	96967874	4	19100											
OR6N1	128372	genome.wustl.edu	37	chr1	158735723	158735723	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggatgctcccatagaaGatgagaaccacagtgaagtg	12	7	0	4			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:158735723G>A	ENST00000335094.2	-	1	769	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	250						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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCCCATAGAAGATGAGAACCA	0.537																																																	0								ENSG00000197403						174	164	168					1																	158735723		2203	4300	6503	OR6N1	SO:0001819	synonymous_variant	0			-	HGNC	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.750C>T	1.37:g.158735723G>A		Somatic	0	51	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	21	53.33	Q5VUU8|Q96R35	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I250	ENST00000335094.2	37	c.750	CCDS30905.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	protein_coding	OTTHUMT00000059067.1	G	NM_001005185	-		158735723	-1	no_errors	ENST00000335094	ensembl	human	known	74_37	silent	SNP	0.996	A	A	158735723	G	A	158735723	2	1	236	1	0	0	0	0	0	0	0	1	11208	932	33	2		2	OR6N1	1	158735723	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	6452976	158735723	90514898	5	19101											
DARC	2532	genome.wustl.edu	37	chr1	159175905	159175905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttgccattgggtttgTttggagccaaggggctgaag	15	6	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:159175905T>G	ENST00000368122.2	+	2	1355	c.676T>G	c.(676-678)Ttt>Gtt	p.F226V	DARC_ENST00000537147.1_Missense_Mutation_p.F226V|DARC_ENST00000368121.2_Missense_Mutation_p.F228V|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		226					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATTGGGTTTGTTTGGAGCCAA	0.542																																																	0								ENSG00000213088						89	79	82					1																	159175905		2203	4300	6503	DARC	SO:0001583	missense	0			-	HGNC																												ENST00000368122.2:c.676T>G	1.37:g.159175905T>G	ENSP00000357104:p.Phe226Val	Somatic	0	65	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	68	16.05	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP							prints_Duffy_chemokine_rcpt	p.F228V	ENST00000368122.2	37	c.682	CCDS1183.1	1	.	.	.	.	.	.	.	.	.	.	T	2.728	-0.265118	0.05754	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.37058	1.22;1.22;1.22	4.84	-1.38	0.09027	.	1.002520	0.08054	U	0.997144	T	0.04227	0.0117	N	0.03608	-0.345	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.12156	0.007;0.007	T	0.35847	-0.9772	10	0.46703	T	0.11	-3.2166	1.3148	0.02104	0.1323:0.3078:0.2312:0.3286	.	228;226	Q5Y7A1;Q16570	.;DUFFY_HUMAN	V	226;226;226;228	ENSP00000357104:F226V;ENSP00000441985:F226V;ENSP00000357103:F228V	ENSP00000352341:F226V	F	+	1	0	DARC	157442529	0.071000	0.21146	0.026000	0.17262	0.170000	0.22686	-0.687000	0.05156	-0.361000	0.08125	-0.388000	0.06559	TTT	-	prints_Duffy_chemokine_rcpt		0.542	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	protein_coding	OTTHUMT00000090338.2	T		-		159175905	1	no_errors	ENST00000368121	ensembl	human	known	74_37	missense	SNP	0.009	G	G	159175905	T	G	159175905	3	3	236	1	0	0	0	0	1	0	0	0	4242	1725	60	5	709	5	DARC	1	159175905	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	440182	159175905	90074716	6	19102											
SLAMF6	114836	genome.wustl.edu	37	chr1	160465892	160465892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagctttgcagaggtcTttgtggatatctgggctctg	14	7	3	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:160465892T>C	ENST00000368057.3	-	2	401	c.341A>G	c.(340-342)aAg>aGg	p.K114R	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.K114R			Q96DU3	SLAF6_HUMAN	SLAM family member 6	114	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGCAGAGGTCTTTGTGGATAT	0.423																																																	0								ENSG00000162739						152	147	149					1																	160465892		2203	4300	6503	SLAMF6	SO:0001583	missense	0			-	HGNC	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.341A>G	1.37:g.160465892T>C	ENSP00000357036:p.Lys114Arg	Somatic	0	126	0		0.635208746303704	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	100	15.25	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP							pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.K114R	ENST00000368057.3	37	c.341	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.317737	0.23994	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.65549	-0.16;-0.16	4.95	-3.71	0.04424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	33.255300	0.00166	N	0.000001	T	0.21347	0.0514	N	0.21508	0.67	0.20074	N	0.999936	B;B;B;B	0.17465	0.009;0.005;0.022;0.022	B;B;B;B	0.12837	0.007;0.005;0.008;0.008	T	0.06445	-1.0826	10	0.27082	T	0.32	6.1126	6.2116	0.20631	0.3684:0.0:0.376:0.2555	.	65;114;114;114	B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	R	114	ENSP00000357038:K114R;ENSP00000357036:K114R	ENSP00000357036:K114R	K	-	2	0	SLAMF6	158732516	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.525000	0.06214	-0.925000	0.03775	0.533000	0.62120	AAG	-	pfam_Ig_V-set,smart_Ig_sub		0.423	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	protein_coding	OTTHUMT00000059010.1	T	NM_052931	-		160465892	-1	no_errors	ENST00000368057	ensembl	human	known	74_37	missense	SNP	0.000	C	C	160465892	T	C	160465892	3	2	236	1	0	0	0	0	1	0	0	0	14376	1609	56	5	685	5	SLAMF6	1	160465892	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	1289987	160465892	88784729	7	19103											
PRG4	10216	genome.wustl.edu	37	chr1	186282866	186282866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcaagagcaattactactCgttctgggcagaccttatcc	8	12	1	2	rs146737948		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr1:186282866C>A	ENST00000445192.2	+	13	4216	c.4171C>A	c.(4171-4173)Cgt>Agt	p.R1391S	PRG4_ENST00000367486.3_Missense_Mutation_p.R1348S|RNU6-1240P_ENST00000365155.1_RNA|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367483.4_Missense_Mutation_p.R1350S|PRG4_ENST00000367484.3_Missense_Mutation_p.R920S|PRG4_ENST00000367485.4_Missense_Mutation_p.R1298S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1391					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AATTACTACTCGTTCTGGGCA	0.348																																																	0								ENSG00000116690						118	113	115					1																	186282866		2203	4300	6503	PRG4	SO:0001583	missense	0			-	HGNC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.4171C>A	1.37:g.186282866C>A	ENSP00000399679:p.Arg1391Ser	Somatic	0	106	0		0.635208746303704	3	72.73	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	47	57.66	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP							pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.R1391S	ENST00000445192.2	37	c.4171	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780022	0.49891	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.95	5.02	0.67125	Hemopexin/matrixin (2);	0.152547	0.30639	N	0.009183	T	0.60130	0.2245	L	0.57536	1.79	0.22754	N	0.998775	D;D;D;D	0.63880	0.993;0.993;0.989;0.993	P;P;P;P	0.60473	0.875;0.875;0.822;0.875	T	0.56086	-0.8037	10	0.72032	D	0.01	-2.6052	11.8645	0.52486	0.138:0.7293:0.1327:0.0	.	1257;1298;1391;1350	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	1348;920;1350;1298;1391	ENSP00000356456:R1348S;ENSP00000356454:R920S;ENSP00000356453:R1350S;ENSP00000356455:R1298S;ENSP00000399679:R1391S	ENSP00000356453:R1350S	R	+	1	0	PRG4	184549489	0.578000	0.26717	0.993000	0.49108	0.996000	0.88848	1.424000	0.34848	1.485000	0.48380	0.650000	0.86243	CGT	-	superfamily_Hemopexin-like_dom		0.348	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	C	NM_005807	-		186282866	1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	SNP	0.672	A	A	186282866	C	A	186282866	3	1	236	1	0	0	0	0	1	0	0	0	12486	884	31	3	4217	3	PRG4	1	186282866	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	25816974	186282866	62967755	8	19104											
YIPF4	84272	genome.wustl.edu	37	chr2	32526542	32526542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggtggttggatcatttgAagtggtgtctacacttataa	11	4	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:32526542A>G	ENST00000238831.4	+	5	821	c.575A>G	c.(574-576)gAa>gGa	p.E192G		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	192						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGATCATTTGAAGTGGTGTCT	0.353																																																	0								ENSG00000119820						146	136	140					2																	32526542		2203	4299	6502	YIPF4	SO:0001583	missense	0			-	HGNC	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"Yip1 domain family"	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.575A>G	2.37:g.32526542A>G	ENSP00000238831:p.Glu192Gly	Somatic	0	180	0		0.635208746303704	116	26.88	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	88	17.59		Missense_Mutation	SNP							pfam_Yip1	p.E192G	ENST00000238831.4	37	c.575	CCDS1781.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.12|15.12	2.737857|2.737857	0.49045|0.49045	.|.	.|.	ENSG00000119820|ENSG00000119820	ENST00000238831|ENST00000441084	T|.	0.38887|.	1.11|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Yip1 domain (1);|.	0.101661|.	0.64402|.	D|.	0.000003|.	T|T	0.38401|0.38401	0.1039|0.1039	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.48089|.	0.905|.	P|.	0.47118|.	0.538|.	T|T	0.34403|0.34403	-0.9830|-0.9830	10|5	0.07482|.	T|.	0.82|.	.|.	14.0289|14.0289	0.64604|0.64604	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	192|.	Q9BSR8|.	YIPF4_HUMAN|.	G|E	192|11	ENSP00000238831:E192G|.	ENSP00000238831:E192G|.	E|K	+|+	2|1	0|0	YIPF4|YIPF4	32380046|32380046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.926000|7.926000	0.87569|0.87569	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	GAA|AAG	-	pfam_Yip1		0.353	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF4	protein_coding	OTTHUMT00000250250.3	A	NM_032312	-		32526542	1	no_errors	ENST00000238831	ensembl	human	known	74_37	missense	SNP	1.000	G	G	32526542	A	G	32526542	3	3	236	1	0	0	0	0	1	0	0	0	17487	246	9	5	593	5	YIPF4	2	32526542	Missense_Mutation	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09		32526542	210672831	9	19105											
FAM176A	84141	genome.wustl.edu	37	chr2	75745210	75745210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaataggccgctaggatGttgctgagcaaagccatctc	12	9	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:75745210G>A	ENST00000233712.1	-	3	494	c.57C>T	c.(55-57)aaC>aaT	p.N19N	EVA1A_ENST00000410071.1_Silent_p.N19N|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000410113.1_Silent_p.N19N|EVA1A_ENST00000393913.3_Silent_p.N19N	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	19	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)											CCGCTAGGATGTTGCTGAGCA	0.602																																																	0								ENSG00000115363						121	108	112					2																	75745210		2203	4300	6503	EVA1A	SO:0001819	synonymous_variant	0			-	HGNC	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.57C>T	2.37:g.75745210G>A		Somatic	0	92	0		0.635208746303704	70	30.69	31	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	54	22.86	D6W5J3|Q9HC41	Silent	SNP							NULL	p.N19	ENST00000233712.1	37	c.57	CCDS1959.1	2																																																																																			-	NULL		0.602	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	protein_coding	OTTHUMT00000328707.1	G	NM_032181	-		75745210	-1	no_errors	ENST00000233712	ensembl	human	known	74_37	silent	SNP	0.937	A	A	75745210	G	A	75745210	2	1	236	1	0	0	0	0	0	0	0	1	5501	1368	48	2		2	FAM176A	2	75745210	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	43218668	75745210	167454163	10	19106											
SLC5A7	60482	genome.wustl.edu	37	chr2	108604789	108604789	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggatttaccatgacaGgtacgttcagacgccgccgg	13	10	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:108604789G>T	ENST00000264047.2	+	2	454	c.178G>T	c.(178-180)Gct>Tct	p.A60S	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Splice_Site_p.A60S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	60					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TACCATGACAGGTACGTTCAG	0.522																																																	0								ENSG00000115665						122	108	113					2																	108604789		2203	4300	6503	SLC5A7	SO:0001630	splice_region_variant	0			-	HGNC	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.178+1G>T	2.37:g.108604789G>T		Somatic	0	35	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	Q53TF2	Missense_Mutation	SNP							pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.A60S	ENST00000264047.2	37	c.178	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.252514	0.95336	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.90385	-2.66;-2.66	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95865	0.8886	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	60	Q9GZV3	SC5A7_HUMAN	S	60	ENSP00000387346:A60S;ENSP00000264047:A60S	ENSP00000264047:A60S	A	+	1	0	SLC5A7	107971221	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.420000	0.97426	2.882000	0.98803	0.655000	0.94253	GCT	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter		0.522	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	protein_coding	OTTHUMT00000253562.1	G		-	Missense_Mutation	108604789	1	no_errors	ENST00000264047	ensembl	human	known	74_37	missense	SNP	1.000	T	T	108604789	G	T	108604789	5	4	236	1	0	0	0	0	0	0	1	0	14678	1014	35	3	180	3	SLC5A7	2	108604789	Splice_Site	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	32859579	108604789	134594584	11	19107											
FAM123C	205147	genome.wustl.edu	37	chr2	131521477	131521477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacgaggtcactctgaagGcttgttctcctctatggagt	11	10	4	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:131521477G>T	ENST00000423981.1	+	2	1942	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	AMER3_ENST00000321420.4_Missense_Mutation_p.G611V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	611					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CACTCTGAAGGCTTGTTCTCC	0.577																																																	0								ENSG00000178171						69	72	71					2																	131521477		2203	4300	6503	AMER3	SO:0001583	missense	0			-	HGNC	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1832G>T	2.37:g.131521477G>T	ENSP00000392700:p.Gly611Val	Somatic	0	85	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B7ZLH6	Missense_Mutation	SNP							pfam_Uncharacterised_FAM123	p.G611V	ENST00000423981.1	37	c.1832	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100268	0.20552	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.48522	0.81;0.81	4.57	1.71	0.24356	.	1.746490	0.03424	N	0.206703	T	0.42223	0.1193	L	0.27053	0.805	0.09310	N	0.999998	P	0.34780	0.468	B	0.39503	0.301	T	0.41378	-0.9512	10	0.52906	T	0.07	.	8.6796	0.34201	0.2848:0.0:0.7152:0.0	.	611	Q8N944	F123C_HUMAN	V	611	ENSP00000314914:G611V;ENSP00000392700:G611V	ENSP00000314914:G611V	G	+	2	0	FAM123C	131237947	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.284000	0.18864	0.137000	0.18759	-1.134000	0.01955	GGC	-	NULL		0.577	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	protein_coding	OTTHUMT00000254531.3	G	NM_152698	-		131521477	1	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	SNP	0.010	T	T	131521477	G	T	131521477	3	4	236	1	0	0	0	0	1	0	0	0	5426	1203	42	3	1834	3	FAM123C	2	131521477	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	22916688	131521477	111677896	12	19108											
R3HDM1	23518	genome.wustl.edu	37	chr2	136373731	136373731	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatattcagcggccattgCagtcatttggacagacagga	11	8	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:136373731C>T	ENST00000264160.4	+	4	551	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.Q61*|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	61							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)		GCGGCCATTGCAGTCATTTGG	0.358																																																	0								ENSG00000048991						94	95	95					2																	136373731		2203	4300	6503	R3HDM1	SO:0001587	stop_gained	0			-	HGNC	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.181C>T	2.37:g.136373731C>T	ENSP00000264160:p.Gln61*	Somatic	0	119	0		0.635208746303704	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Nonsense_Mutation	SNP							pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q61*	ENST00000264160.4	37	c.181	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.879866	0.97904	.	.	ENSG00000048991	ENST00000264160;ENST00000409606	.	.	.	5.38	5.38	0.77491	.	0.153264	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.3005	17.3126	0.87213	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000264160:Q61X	Q	+	1	0	R3HDM1	136090201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.675000	0.68123	2.535000	0.85469	0.650000	0.86243	CAG	-	NULL		0.358	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	C	NM_015361	-		136373731	1	no_errors	ENST00000264160	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	136373731	C	T	136373731	4	4	236	1	0	0	0	0	0	1	0	0	12895	711	25	2	187	2	R3HDM1	2	136373731	Nonsense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	4852254	136373731	106825642	13	19109											
THSD7B	80731	genome.wustl.edu	37	chr2	137917905	137917905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggggcctgtgcatcCatgaaaactgtcatgatcct	10	12	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:137917905C>A	ENST00000409968.1	+	6	1670	c.1492C>A	c.(1492-1494)Cat>Aat	p.H498N	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.H498N|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.H467N			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	498	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTGCATCCATGAAAACTG	0.498																																																	0								ENSG00000144229						119	120	119					2																	137917905		2042	4203	6245	THSD7B	SO:0001583	missense	0			-	HGNC			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1492C>A	2.37:g.137917905C>A	ENSP00000387145:p.His498Asn	Somatic	0	62	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	5	76.19		Missense_Mutation	SNP							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.H498N	ENST00000409968.1	37	c.1492		2	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247246	0.22880	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21734	2.52;2.38;1.99	5.96	4.17	0.49024	.	0.306413	0.39210	N	0.001428	T	0.27313	0.0670	M	0.64997	1.995	0.19300	N	0.999977	B;B	0.34329	0.449;0.449	B;B	0.42771	0.397;0.397	T	0.11842	-1.0571	10	0.25751	T	0.34	.	10.2388	0.43299	0.0:0.7868:0.0:0.2132	.	498;467	Q9C0I4;C9JKN6	THS7B_HUMAN;.	N	498;498;467	ENSP00000387145:H498N;ENSP00000272643:H498N;ENSP00000413841:H467N	ENSP00000272643:H498N	H	+	1	0	THSD7B	137634375	0.839000	0.29477	0.640000	0.29408	0.576000	0.36127	1.431000	0.34925	0.849000	0.35215	0.650000	0.86243	CAT	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9	-		137917905	1	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	SNP	0.121	A	A	137917905	C	A	137917905	3	1	236	1	0	0	0	0	1	0	0	0	15887	594	21	3	1417	3	THSD7B	2	137917905	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	1544174	137917905	105281468	14	19110											
MYO3B	140469	genome.wustl.edu	37	chr2	171056780	171056780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgtagggggacagctgTggctggtcctggaggtaaga	18	6	0	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:171056780T>C	ENST00000408978.4	+	3	450	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R	MYO3B_ENST00000409044.3_Missense_Mutation_p.W103R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.W112R	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGACAGCTGTGGCTGGTCCT	0.458																																																	0								ENSG00000071909						74	77	76					2																	171056780		1873	4103	5976	MYO3B	SO:0001583	missense	0			-	HGNC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.307T>C	2.37:g.171056780T>C	ENSP00000386213:p.Trp103Arg	Somatic	0	78	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.W112R	ENST00000408978.4	37	c.334	CCDS42773.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.190748|4.190748	0.78789|0.78789	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.65732	.|-0.17;-0.17;-0.17;-0.17	5.29|5.29	5.29|5.29	0.74685|0.74685	.|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|T	0.76905|0.76905	0.4053|0.4053	M|M	0.62154|0.62154	1.92|1.92	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	.|0.97110	.|1.0;0.999;0.998;1.0	T|T	0.79621|0.79621	-0.1727|-0.1727	5|10	.|0.87932	.|D	.|0	.|.	15.5409|15.5409	0.76048|0.76048	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|103;103;103;103	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	A|R	102|103;103;102;112;112	.|ENSP00000386497:W103R;ENSP00000386213:W103R;ENSP00000446237:W112R;ENSP00000335100:W112R	.|ENSP00000314213:W102R	V|W	+|+	2|1	0|0	MYO3B|MYO3B	170765026|170765026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.997000|7.997000	0.88414|0.88414	2.140000|2.140000	0.66376|0.66376	0.460000|0.460000	0.39030|0.39030	GTG|TGG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.458	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	protein_coding	OTTHUMT00000333410.1	T		-		171056780	1	no_errors	ENST00000334231	ensembl	human	known	74_37	missense	SNP	1.000	C	C	171056780	T	C	171056780	3	2	236	1	0	0	0	0	1	0	0	0	10079	1696	59	5	317	5	MYO3B	2	171056780	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	33138875	171056780	72142593	15	19111											
ZNF142	7701	genome.wustl.edu	37	chr2	219503495	219503495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatcagcccggttggtgCagtactcacactcgggacac	12	13	2	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:219503495C>T	ENST00000449707.1	-	10	5052	c.4631G>A	c.(4630-4632)tGc>tAc	p.C1544Y	ZNF142_ENST00000411696.2_Missense_Mutation_p.C1544Y	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1544					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCGGTTGGTGCAGTACTCACA	0.572																																					Colon(170;867 1942 8995 15834 18053)												0								ENSG00000115568						30	32	31					2																	219503495		2107	4231	6338	ZNF142	SO:0001583	missense	0			-	HGNC	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4631G>A	2.37:g.219503495C>T	ENSP00000408643:p.Cys1544Tyr	Somatic	0	42	0		0.635208746303704	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q92510	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C1544Y	ENST00000449707.1	37	c.4631	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492916	0.84962	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.16597	2.33;2.33	6.1	6.1	0.99115	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.086330	0.85682	D	0.000000	T	0.36552	0.0971	L	0.38838	1.175	0.41549	D	0.988566	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.01697	-1.1293	10	0.62326	D	0.03	-16.8626	20.7114	0.99707	0.0:1.0:0.0:0.0	.	1544;1381	P52746;A8MWU9	ZN142_HUMAN;.	Y	1544	ENSP00000408643:C1544Y;ENSP00000398798:C1544Y	ENSP00000398798:C1544Y	C	-	2	0	ZNF142	219211739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.844000	0.62846	2.902000	0.99343	0.603000	0.83216	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.572	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	protein_coding	OTTHUMT00000336833.1	C	NM_005081	-		219503495	-1	no_errors	ENST00000411696	ensembl	human	known	74_37	missense	SNP	1.000	T	T	219503495	C	T	219503495	3	4	236	1	0	0	0	0	1	0	0	0	17738	710	25	2	436	2	ZNF142	2	219503495	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	48446715	219503495	23695878	16	19112											
ECEL1	9427	genome.wustl.edu	37	chr2	233350833	233350833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcgcgcaccttgcgCtgggccgcgccgccaggccc	15	17	0	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr2:233350833C>T	ENST00000304546.1	-	2	741	c.531G>A	c.(529-531)caG>caA	p.Q177Q	ECEL1_ENST00000409941.1_Silent_p.Q177Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	177					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCACCTTGCGCTgggccgcgc	0.716																																																	0								ENSG00000171551						4	5	5					2																	233350833		1996	3995	5991	ECEL1	SO:0001819	synonymous_variant	0			-	HGNC	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.531G>A	2.37:g.233350833C>T		Somatic	0	12	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP							pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Q177	ENST00000304546.1	37	c.531	CCDS2493.1	2																																																																																			-	pfam_Peptidase_M13_N		0.716	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	protein_coding	OTTHUMT00000257039.2	C	NM_004826	-		233350833	-1	no_errors	ENST00000304546	ensembl	human	known	74_37	silent	SNP	1.000	T	T	233350833	C	T	233350833	2	4	236	1	0	0	0	0	0	0	0	1	4893	796	28	2		2	ECEL1	2	233350833	Silent	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	13847338	233350833	9848540	17	19113											
CYP8B1	1582	genome.wustl.edu	37	chr3	42916302	42916302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtctagaactggggtgTgttgcagggcaccgagtttg	16	8	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr3:42916302T>C	ENST00000316161.4	-	1	1331	c.1007A>G	c.(1006-1008)cAc>cGc	p.H336R	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.H336R|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	336					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AACTGGGGTGTGTTGCAGGGC	0.592																																																	0								ENSG00000180432						41	39	40					3																	42916302		2203	4300	6503	CYP8B1	SO:0001583	missense	0			-	HGNC	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1007A>G	3.37:g.42916302T>C	ENSP00000318867:p.His336Arg	Somatic	0	56	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.H336R	ENST00000316161.4	37	c.1007	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	T	0.658	-0.806843	0.02819	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01215	5.16;5.16	5.27	-3.55	0.04639	.	1.006310	0.07997	N	0.988043	T	0.00875	0.0029	N	0.11724	0.165	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.18263	0.021;0.021	T	0.46721	-0.9171	10	0.25751	T	0.34	-1.4825	11.4874	0.50361	0.0:0.424:0.0:0.576	.	336;336	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	R	336	ENSP00000404499:H336R;ENSP00000318867:H336R	ENSP00000318867:H336R	H	-	2	0	CYP8B1	42891306	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.264000	0.08658	-0.623000	0.05618	-0.441000	0.05720	CAC	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.592	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	protein_coding	OTTHUMT00000256653.1	T	NM_004391	-		42916302	-1	no_errors	ENST00000316161	ensembl	human	known	74_37	missense	SNP	0.028	C	C	42916302	T	C	42916302	3	2	236	1	0	0	0	0	1	0	0	0	4200	1696	59	5	502	5	CYP8B1	3	42916302	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09		42916302	155106128	18	19114											
CBLB	868	genome.wustl.edu	37	chr3	105412343	105412343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaaactcactttatGctagggaggagggtggtaac	11	7	2	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr3:105412343G>T	ENST00000264122.4	-	13	2370	c.2049C>A	c.(2047-2049)agC>agA	p.S683R	CBLB_ENST00000394027.3_Missense_Mutation_p.S705R|CBLB_ENST00000403724.1_Missense_Mutation_p.S683R|CBLB_ENST00000405772.1_Missense_Mutation_p.S683R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	683	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTCACTTTATGCTAGGGAGGA	0.428			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0								ENSG00000114423						96	93	94					3																	105412343		2203	4300	6503	CBLB	SO:0001583	missense	0			-	HGNC	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2049C>A	3.37:g.105412343G>T	ENSP00000264122:p.Ser683Arg	Somatic	0	82	0		0.635208746303704	27	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP							pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.S683R	ENST00000264122.4	37	c.2049	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761154	0.31137	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.85171	-1.37;-1.91;-1.91;-1.93;-1.95	5.45	3.66	0.41972	.	0.295779	0.41605	D	0.000853	T	0.78534	0.4298	L	0.51422	1.61	0.80722	D	1	B;B;B	0.29805	0.079;0.062;0.257	B;B;B	0.26517	0.07;0.031;0.049	T	0.74417	-0.3672	10	0.87932	D	0	-8.91	6.7233	0.23342	0.3982:0.0:0.6018:0.0	.	705;683;683	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	R	66;683;705;683;683	ENSP00000377598:S66R;ENSP00000264122:S683R;ENSP00000377595:S705R;ENSP00000384816:S683R;ENSP00000384938:S683R	ENSP00000264122:S683R	S	-	3	2	CBLB	106895033	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.038000	0.30254	0.674000	0.31244	0.591000	0.81541	AGC	-	NULL		0.428	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	protein_coding	OTTHUMT00000319417.2	G	NM_170662	-		105412343	-1	no_errors	ENST00000264122	ensembl	human	known	74_37	missense	SNP	0.998	T	T	105412343	G	T	105412343	3	4	236	1	0	0	0	0	1	0	0	0	2703	1310	46	3	927	3	CBLB	3	105412343	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	62496041	105412343	92610087	19	19115											
POLQ	10721	genome.wustl.edu	37	chr3	121202431	121202431	+	Splice_Site	DEL	T	T	-													accaaactggcactaatttcTttaaaaaaaaaaaaaaaaag							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr3:121202431delT	ENST00000264233.5	-	18	5902		c.e18-2			NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CACTAATTTCTTTaaaaaaaa	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						30	31	31					3																	121202431		2199	4297	6496	POLQ	SO:0001630	splice_region_variant	0				HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5774-2A>-	3.37:g.121202431delT		Somatic	0	49	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	O95160|Q6VMB5	Splice_Site	DEL							-	e18-2	ENST00000264233.5	37	c.5774-2	CCDS33833.1	3																																																																																			-	-		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	T	NM_199420		Intron	121202431	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	splice_site_del	DEL	0.997	-	-	121202431	T	-	121202431	8	5	236	1	0	1	0	1	0	0	1	0	12210	1623	56	0	2052	0	POLQ	3	121202431	Splice_Site	DEL	T	TCGA-X6-A8C4-01A-11D-A36J-09	15790088	121202431	76819999	20	19116											
UROC1	131669	genome.wustl.edu	37	chr3	126216947	126216947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagttcgtctgtgaccGccaggtcctgggggtccccc	14	15	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr3:126216947G>A	ENST00000290868.2	-	14	1438	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	UROC1_ENST00000383579.3_Missense_Mutation_p.A522V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	462					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTCTGTGACCGCCAGGTCCTG	0.632																																																	0								ENSG00000159650						126	136	133					3																	126216947		2203	4300	6503	UROC1	SO:0001583	missense	0			-	HGNC	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1385C>T	3.37:g.126216947G>A	ENSP00000290868:p.Ala462Val	Somatic	0	122	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	59	11.76	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP							pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.A462V	ENST00000290868.2	37	c.1385	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	3.698	-0.062098	0.07317	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.44881	0.91;0.91	4.4	1.09	0.20402	Urocanase domain (2);	0.175056	0.49916	D	0.000139	T	0.23688	0.0573	L	0.31926	0.97	0.44469	D	0.9974	B;B	0.15473	0.013;0.003	B;B	0.16289	0.015;0.008	T	0.04481	-1.0948	10	0.15499	T	0.54	-2.6188	4.5283	0.11992	0.2222:0.0:0.5978:0.1801	.	522;462	E9PE13;Q96N76	.;HUTU_HUMAN	V	462;522	ENSP00000290868:A462V;ENSP00000373073:A522V	ENSP00000290868:A462V	A	-	2	0	UROC1	127699637	0.999000	0.42202	0.831000	0.32960	0.010000	0.07245	2.381000	0.44336	0.868000	0.35678	-0.332000	0.08345	GCG	-	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase		0.632	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	protein_coding	OTTHUMT00000370325.2	G	NM_144639	-		126216947	-1	no_errors	ENST00000290868	ensembl	human	known	74_37	missense	SNP	0.763	A	A	126216947	G	A	126216947	3	1	236	1	0	0	0	0	1	0	0	0	17035	1087	38	1	673	1	UROC1	3	126216947	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	5014516	126216947	71805483	21	19117											
HTR3C	170572	genome.wustl.edu	37	chr3	183770933	183770933	+	Frame_Shift_Del	DEL	A	A	-													cactgtcagtcttctgcttcAaggtaagatgggacgagaac							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr3:183770933delA	ENST00000318351.1	+	1	99	c.65delA	c.(64-66)caafs	p.Q22fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	22					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTTCTGCTTCAAGGTAAGATG	0.527																																																	0								ENSG00000178084						110	92	98					3																	183770933		2203	4300	6503	HTR3C	SO:0001589	frameshift_variant	0				HGNC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.65delA	3.37:g.183770933delA	ENSP00000322617:p.Gln22fs	Somatic	0	49	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	A2RRR5	Frame_Shift_Del	DEL							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.G23fs	ENST00000318351.1	37	c.65	CCDS3250.1	3																																																																																			-	NULL		0.527	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	protein_coding	OTTHUMT00000346296.1	A	NM_130770			183770933	1	no_errors	ENST00000318351	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	183770933	A	-	183770933	7	5	236	1	0	1	0	1	0	0	0	0	7448	130	5	0	67	0	HTR3C	3	183770933	Frame_Shift_Del	DEL	A	TCGA-X6-A8C4-01A-11D-A36J-09	57553986	183770933	14251497	22	19118											
WHSC1	7468	genome.wustl.edu	37	chr4	1902605	1902605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgccctgccctttattcCagccgacaagctgaaagatc	8	15	0	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr4:1902605C>T	ENST00000382895.3	+	4	655	c.224C>T	c.(223-225)cCa>cTa	p.P75L	WHSC1_ENST00000514045.1_Missense_Mutation_p.P75L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P75L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P75L|WHSC1_ENST00000503128.1_Missense_Mutation_p.P75L|WHSC1_ENST00000436793.1_Missense_Mutation_p.P75L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P75L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P75L|WHSC1_ENST00000382892.2_Missense_Mutation_p.P75L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	75					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCCTTTATTCCAGCCGACAAG	0.542			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0								ENSG00000109685						62	65	64					4																	1902605		2203	4300	6503	WHSC1	SO:0001583	missense	0			-	HGNC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.224C>T	4.37:g.1902605C>T	ENSP00000372351:p.Pro75Leu	Somatic	0	63	0		0.635208746303704	84	44.08	67	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	32	48.39	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP							pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.P75L	ENST00000382895.3	37	c.224	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892967	0.91889	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95103	-3.61;1.12;0.81;-3.61;-3.61;0.84;1.12;-3.61;1.1;1.15;1.1	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000020	D	0.96744	0.8937	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.856;0.999;0.999	D	0.97057	0.9768	10	0.87932	D	0	.	19.5874	0.95495	0.0:1.0:0.0:0.0	.	75;75;75;75;75	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	L	75	ENSP00000423972:P75L;ENSP00000421681:P75L;ENSP00000427434:P75L;ENSP00000372347:P75L;ENSP00000372348:P75L;ENSP00000416725:P75L;ENSP00000399251:P75L;ENSP00000372351:P75L;ENSP00000425761:P75L;ENSP00000422878:P75L;ENSP00000381311:P75L	ENSP00000308780:P75L	P	+	2	0	WHSC1	1872403	1.000000	0.71417	0.530000	0.27963	0.965000	0.64279	4.189000	0.58358	2.622000	0.88805	0.655000	0.94253	CCA	-	NULL		0.542	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	protein_coding	OTTHUMT00000366269.2	C	NM_133330	-		1902605	1	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	SNP	0.996	T	T	1902605	C	T	1902605	3	4	236	1	0	0	0	0	1	0	0	0	17369	594	21	2	226	2	WHSC1	4	1902605	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		1902605	189251671	23	19119											
TLR10	81793	genome.wustl.edu	37	chr4	38776300	38776300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgaaatgtacatgctcCaattttatagttctcattac	4	9	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr4:38776300C>T	ENST00000308973.4	-	4	1517	c.912G>A	c.(910-912)ttG>ttA	p.L304L	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Silent_p.L304L|TLR10_ENST00000508334.1_Silent_p.L304L|TLR10_ENST00000506111.1_Silent_p.L304L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	304					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTACATGCTCCAATTTTATAG	0.333																																																	0								ENSG00000174123						84	86	85					4																	38776300		2203	4299	6502	TLR10	SO:0001819	synonymous_variant	0			-	HGNC	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.912G>A	4.37:g.38776300C>T		Somatic	0	78	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.67	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP							pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L304	ENST00000308973.4	37	c.912	CCDS3445.1	4																																																																																			-	pirsf_Toll-like_receptor		0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	protein_coding	OTTHUMT00000250430.1	C		-		38776300	-1	no_errors	ENST00000308973	ensembl	human	known	74_37	silent	SNP	0.842	T	T	38776300	C	T	38776300	2	4	236	1	0	0	0	0	0	0	0	1	15957	593	21	2		2	TLR10	4	38776300	Silent	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	36873695	38776300	152377976	24	19120											
GABRG1	2565	genome.wustl.edu	37	chr4	46053588	46053588	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccatcgcagtcacataAgaaaccttaggtaaagactt	7	9	1	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr4:46053588A>C	ENST00000295452.4	-	8	1151	c.984T>G	c.(982-984)tcT>tcG	p.S328S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	328					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Ketazolam(DB01587)|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)	CAGTCACATAAGAAACCTTAG	0.373																																																	0								ENSG00000163285						101	94	96					4																	46053588		2203	4300	6503	GABRG1	SO:0001819	synonymous_variant	0			-	HGNC	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.984T>G	4.37:g.46053588A>C		Somatic	0	83	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	Q5H9T8	Silent	SNP							pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S328	ENST00000295452.4	37	c.984	CCDS3470.1	4																																																																																			-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.373	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	protein_coding	OTTHUMT00000250470.1	A	NM_173536	-		46053588	-1	no_errors	ENST00000295452	ensembl	human	known	74_37	silent	SNP	0.659	C	C	46053588	A	C	46053588	2	2	236	1	0	0	0	0	0	0	0	1	6173	59	3	5		5	GABRG1	4	46053588	Silent	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	7277288	46053588	145100688	25	19121											
NUP54	53371	genome.wustl.edu	37	chr4	77065614	77065614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtagatgttgtcccaaatCctccaaacccacctaattaa	4	12	0	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr4:77065614C>A	ENST00000264883.3	-	2	220	c.80G>T	c.(79-81)gGa>gTa	p.G27V	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Missense_Mutation_p.G27V|NUP54_ENST00000515460.1_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	27	9 X 2 AA repeats of F-G.|Gly-rich.				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)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTCCCAAATCCTCCAAACCC	0.343																																																	0								ENSG00000138750						80	77	78					4																	77065614		2203	4300	6503	NUP54	SO:0001583	missense	0			-	HGNC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.80G>T	4.37:g.77065614C>A	ENSP00000264883:p.Gly27Val	Somatic	0	101	0		0.635208746303704	0	98	49	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	5	91.53	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP							NULL	p.G27V	ENST00000264883.3	37	c.80	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755278	0.69648	.	.	ENSG00000138750	ENST00000264883;ENST00000514987;ENST00000514901	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83667	0.0164	9	0.51188	T	0.08	-21.5053	18.8088	0.92050	0.0:1.0:0.0:0.0	.	27;27	B4DT35;Q7Z3B4	.;NUP54_HUMAN	V	27;27;81	.	ENSP00000264883:G27V	G	-	2	0	NUP54	77284638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.528000	0.73807	2.871000	0.98454	0.655000	0.94253	GGA	-	NULL		0.343	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	protein_coding	OTTHUMT00000252402.3	C		-		77065614	-1	no_errors	ENST00000264883	ensembl	human	known	74_37	missense	SNP	1.000	A	A	77065614	C	A	77065614	3	1	236	1	0	0	0	0	1	0	0	0	10769	855	30	3	1487	3	NUP54	4	77065614	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	31012026	77065614	114088662	26	19122											
ANXA3	306	genome.wustl.edu	37	chr4	79503418	79503418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccagcagtctttgatGcaaagcagctaaagaaatcc	7	12	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr4:79503418G>A	ENST00000264908.6	+	5	665	c.286G>A	c.(286-288)Gca>Aca	p.A96T	ANXA3_ENST00000503570.2_Missense_Mutation_p.A57T|ANXA3_ENST00000512884.1_Missense_Mutation_p.A57T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	96					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGTCTTTGATGCAAAGCAGCT	0.463																																					GBM(2;126 157 27790 28920 42492)												0								ENSG00000138772						79	76	77					4																	79503418		2203	4300	6503	ANXA3	SO:0001583	missense	0			-	HGNC	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.286G>A	4.37:g.79503418G>A	ENSP00000264908:p.Ala96Thr	Somatic	0	69	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B2R9W6|Q6LET2	Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.A96T	ENST00000264908.6	37	c.286	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001309	0.93227	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;2.78;2.97;2.97	5.16	5.16	0.70880	.	0.110783	0.64402	D	0.000011	T	0.51143	0.1657	M	0.92268	3.29	0.49051	D	0.999742	P	0.52463	0.953	P	0.49752	0.621	T	0.65849	-0.6068	10	0.87932	D	0	.	17.5603	0.87905	0.0:0.0:1.0:0.0	.	96	P12429	ANXA3_HUMAN	T	96;57;57;96;96;96	ENSP00000264908:A96T;ENSP00000423068:A57T;ENSP00000421015:A57T;ENSP00000424584:A96T;ENSP00000421512:A96T;ENSP00000422281:A96T	ENSP00000264908:A96T	A	+	1	0	ANXA3	79722442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.587000	0.53957	2.674000	0.91012	0.591000	0.81541	GCA	-	pfam_Annexin_repeat		0.463	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	protein_coding	OTTHUMT00000252516.3	G	NM_005139	-		79503418	1	no_errors	ENST00000264908	ensembl	human	known	74_37	missense	SNP	1.000	A	A	79503418	G	A	79503418	3	1	236	1	0	0	0	0	1	0	0	0	719	1319	46	2	300	2	ANXA3	4	79503418	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	2437804	79503418	111650858	27	19123											
DNAH5	1767	genome.wustl.edu	37	chr5	13885205	13885205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggttgaaatgagagAgtaactcgcgggcttcttcc	12	8	2	4			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:13885205A>G	ENST00000265104.4	-	19	2980	c.2876T>C	c.(2875-2877)cTc>cCc	p.L959P	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	959	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)					GAAATGAGAGAGTAACTCGCG	0.433									Kartagener syndrome																																								0								ENSG00000039139						130	123	125					5																	13885205		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.2876T>C	5.37:g.13885205A>G	ENSP00000265104:p.Leu959Pro	Somatic	0	88	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	99	19.51	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L959P	ENST00000265104.4	37	c.2876	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808632	0.70797	.	.	ENSG00000039139	ENST00000265104	T	0.25250	1.81	5.73	5.73	0.89815	.	0.128246	0.53938	D	0.000052	T	0.42988	0.1227	M	0.80183	2.485	0.80722	D	1	P	0.40250	0.709	P	0.46510	0.519	T	0.37174	-0.9717	10	0.45353	T	0.12	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	959	Q8TE73	DYH5_HUMAN	P	959	ENSP00000265104:L959P	ENSP00000265104:L959P	L	-	2	0	DNAH5	13938205	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	8.673000	0.91186	2.198000	0.70561	0.533000	0.62120	CTC	-	NULL		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	A	NM_001369	-		13885205	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	G	G	13885205	A	G	13885205	3	3	236	1	0	0	0	0	1	0	0	0	4606	304	11	5	11242	5	DNAH5	5	13885205	Missense_Mutation	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09		13885205	167030055	28	19124											
PDE4D	5144	genome.wustl.edu	37	chr5	59189332	59189332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgccggagcgggtactGgtggtgctgctcgtgcctcc	18	12	0	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:59189332G>T	ENST00000340635.6	-	1	293	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	40					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	agcgggTACTGGTGGTGCTGC	0.756																																																	0								ENSG00000113448						8	17	14					5																	59189332		1506	2961	4467	PDE4D	SO:0001583	missense	0			-	HGNC		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.118C>A	5.37:g.59189332G>T	ENSP00000345502:p.Gln40Lys	Somatic	0	12	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,prints_PDEase	p.Q40K	ENST00000340635.6	37	c.118	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264570	0.39995	.	.	ENSG00000113448	ENST00000340635	T	0.67171	-0.25	3.09	3.09	0.35607	.	.	.	.	.	T	0.52419	0.1733	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.56323	-0.7998	9	0.87932	D	0	.	12.8231	0.57704	0.0:0.0:1.0:0.0	.	40	Q08499	PDE4D_HUMAN	K	40	ENSP00000345502:Q40K	ENSP00000345502:Q40K	Q	-	1	0	PDE4D	59225089	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.914000	0.48797	1.733000	0.51620	0.542000	0.68232	CAG	-	NULL		0.756	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	protein_coding	OTTHUMT00000367940.3	G		-		59189332	-1	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	SNP	1.000	T	T	59189332	G	T	59189332	3	4	236	1	0	0	0	0	1	0	0	0	11644	1357	47	3	2422	3	PDE4D	5	59189332	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	45304127	59189332	121725928	29	19125											
MAP1B	4131	genome.wustl.edu	37	chr5	71493048	71493048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccaatgagattaaagtctCtgcagaggcagaagtagccc	11	10	1	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:71493048C>T	ENST00000296755.7	+	5	4164	c.3866C>T	c.(3865-3867)tCt>tTt	p.S1289F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1289					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)		ATTAAAGTCTCTGCAGAGGCA	0.522																																					Melanoma(17;367 822 11631 31730 47712)												0								ENSG00000131711						54	52	53					5																	71493048		2203	4300	6503	MAP1B	SO:0001583	missense	0			-	HGNC	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.3866C>T	5.37:g.71493048C>T	ENSP00000296755:p.Ser1289Phe	Somatic	0	72	0		0.635208746303704	41	22.64	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	A2BDK5	Missense_Mutation	SNP							pfam_MAP1B_neuraxin	p.S1289F	ENST00000296755.7	37	c.3866	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332590	0.41297	.	.	ENSG00000131711	ENST00000296755	T	0.03801	3.8	5.86	5.86	0.93980	.	0.103314	0.43747	D	0.000537	T	0.08537	0.0212	N	0.08118	0	0.51767	D	0.99993	D;D	0.61080	0.989;0.989	P;P	0.57283	0.817;0.726	T	0.43734	-0.9373	10	0.72032	D	0.01	-16.3276	20.1772	0.98182	0.0:1.0:0.0:0.0	.	1163;1289	A2BDK6;P46821	.;MAP1B_HUMAN	F	1289	ENSP00000296755:S1289F	ENSP00000296755:S1289F	S	+	2	0	MAP1B	71528804	0.787000	0.28750	0.934000	0.37439	0.710000	0.40934	1.593000	0.36686	2.778000	0.95560	0.655000	0.94253	TCT	-	NULL		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	C	NM_005909	-		71493048	1	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	SNP	0.979	T	T	71493048	C	T	71493048	3	4	236	1	0	0	0	0	1	0	0	0	9230	913	32	2	3884	2	MAP1B	5	71493048	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	12303716	71493048	109422212	30	19126											
MSH3	4437	genome.wustl.edu	37	chr5	79950700	79950717	+	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC	-													accaggtggaccctggcgctGcagcggctgcagcggccgca					rs530525176|rs2431220|rs2405875|rs144776112|rs201874762|rs201906899	byFrequency	TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:79950700_79950717delGCAGCGGCTGCAGCGGCC	ENST00000265081.6	+	1	234_251	c.154_171delGCAGCGGCTGCAGCGGCC	c.(154-171)gcagcggctgcagcggccdel	p.AAAAAA52del	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	52	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|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)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCTGGCGCTgcagcggctgcagcggccgcagcggccg	0.693								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	1153,2933		197,759,1087					,		0.2		dbSNP_100	12	2199,5723		382,1435,2144	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	579,2194,3231	A1A1,A1R,RR		27.7581,28.2183,27.9147	,	,		3352,8656				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.154_171delGCAGCGGCTGCAGCGGCC	5.37:g.79950700_79950717delGCAGCGGCTGCAGCGGCC	ENSP00000265081:p.Ala52_Ala57del	Somatic					0.635208746303704	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL							pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAA55in_frame_del	ENST00000265081.6	37	c.154_171	CCDS34195.1	5																																																																																			-	NULL		0.693	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCAGCGGCTGCAGCGGCC	NM_002439			79950717	1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-	-	79950717	GCAGCGGCTGCAGCGGCC	-	79950700	7	5	236	1	0	1	0	1	0	0	0	0	9873	1319	46	0	156	0	MSH3	5	79950700	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	TCGA-X6-A8C4-01A-11D-A36J-09	8457652	79950700	100964560	31	19127											
EDIL3	10085	genome.wustl.edu	37	chr5	83362283	83362283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaccatgtcttcattgGtgcctttcactttgtacatt	5	10	4	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:83362283G>A	ENST00000296591.5	-	7	1212	c.794C>T	c.(793-795)aCc>aTc	p.T265I	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.T255I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	265	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)		GTCTTCATTGGTGCCTTTCAC	0.343																																																	0								ENSG00000164176						89	97	94					5																	83362283		2203	4300	6503	EDIL3	SO:0001583	missense	0			-	HGNC	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.794C>T	5.37:g.83362283G>A	ENSP00000296591:p.Thr265Ile	Somatic	0	64	0		0.635208746303704	32	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP							pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T265I	ENST00000296591.5	37	c.794	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348044	0.61183	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98987	-5.3;-5.3	6.06	5.16	0.70880	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.179623	0.64402	D	0.000016	D	0.97851	0.9294	L	0.35854	1.095	0.49798	D	0.99982	B;P;P	0.48503	0.019;0.911;0.457	B;P;B	0.47981	0.034;0.563;0.216	D	0.97925	1.0317	10	0.49607	T	0.09	-20.0602	17.4333	0.87544	0.0:0.124:0.876:0.0	.	42;255;265	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	I	265;255	ENSP00000296591:T265I;ENSP00000369483:T255I	ENSP00000296591:T265I	T	-	2	0	EDIL3	83398039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.394000	0.52551	2.882000	0.98803	0.655000	0.94253	ACC	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.343	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	protein_coding	OTTHUMT00000239258.1	G	NM_005711	-		83362283	-1	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	SNP	1.000	A	A	83362283	G	A	83362283	3	1	236	1	0	0	0	0	1	0	0	0	4917	1261	44	2	668	2	EDIL3	5	83362283	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	3411583	83362283	97552977	32	19128											
HSD17B4	3295	genome.wustl.edu	37	chr5	118865588	118865588	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttttcttctcctcctaaGgtccaagaaactggagacat	6	10	2	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:118865588G>T	ENST00000256216.6	+	21	1900		c.e21-1		HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000504811.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000522415.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CTCCTCCTAAGGTCCAAGAAA	0.338																																					Colon(35;490 801 34689 41394 43344)												0								ENSG00000133835						76	75	75					5																	118865588		2202	4300	6502	HSD17B4	SO:0001630	splice_region_variant	0			-	HGNC		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1768-1G>T	5.37:g.118865588G>T		Somatic	0	52	0		0.635208746303704	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	46	29.23	B4DNV1|B4DVS5|E9PB82|F5HE57	Splice_Site	SNP							-	e21-1	ENST00000256216.6	37	c.1768-1	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919829	0.52653	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8624	0.92278	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B4	118893487	1.000000	0.71417	0.143000	0.22291	0.531000	0.34715	7.566000	0.82347	2.755000	0.94549	0.591000	0.81541	.	-	-		0.338	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	protein_coding	OTTHUMT00000250863.3	G	NM_000414	-	Intron	118865588	1	no_errors	ENST00000256216	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	118865588	G	T	118865588	5	4	236	1	0	0	0	0	0	0	1	0	7388	1014	35	3	1849	3	HSD17B4	5	118865588	Splice_Site	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	35503305	118865588	62049672	33	19129											
SLC36A2	153201	genome.wustl.edu	37	chr5	150722534	150722534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccccatagtccataaaggGcttgttaagcctgcaggaga	11	10	0	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr5:150722534G>T	ENST00000335244.4	-	4	484	c.355C>A	c.(355-357)Ccc>Acc	p.P119T	SLC36A2_ENST00000521967.1_Missense_Mutation_p.P119T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	119					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TCCATAAAGGGCTTGTTAAGC	0.502																																																	0								ENSG00000186335						133	112	119					5																	150722534		2203	4300	6503	SLC36A2	SO:0001583	missense	0			-	HGNC	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.355C>A	5.37:g.150722534G>T	ENSP00000334223:p.Pro119Thr	Somatic	0	98	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP							pfam_AA_transpt_TM	p.P119T	ENST00000335244.4	37	c.355	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799400	0.50208	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.01933	4.55;4.55	4.87	4.87	0.63330	.	0.163679	0.53938	D	0.000041	T	0.05868	0.0153	L	0.48642	1.525	0.80722	D	1	B;B;B	0.27498	0.115;0.132;0.18	B;B;B	0.42163	0.262;0.06;0.378	T	0.51710	-0.8671	10	0.32370	T	0.25	-35.8918	18.1833	0.89785	0.0:0.0:1.0:0.0	.	119;119;119	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	T	119	ENSP00000334223:P119T;ENSP00000430535:P119T	ENSP00000334223:P119T	P	-	1	0	SLC36A2	150702727	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.038000	0.76537	2.683000	0.91414	0.655000	0.94253	CCC	-	pfam_AA_transpt_TM		0.502	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	G		-		150722534	-1	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	SNP	1.000	T	T	150722534	G	T	150722534	3	4	236	1	0	0	0	0	1	0	0	0	14602	1203	42	3	1124	3	SLC36A2	5	150722534	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	31856946	150722534	30192726	34	19130											
PRSS16	10279	genome.wustl.edu	37	chr6	27222804	27222804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctaagtgtaacacaggCtttaggatcctcagaatcaa	9	8	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr6:27222804C>A	ENST00000230582.3	+	11	1385	c.1370C>A	c.(1369-1371)gCt>gAt	p.A457D	PRSS16_ENST00000421826.2_Missense_Mutation_p.A200D|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	457					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTAACACAGGCTTTAGGATCC	0.562																																					NSCLC(178;1118 2105 17078 23587 44429)												0								ENSG00000112812						125	132	130					6																	27222804		2203	4300	6503	PRSS16	SO:0001583	missense	0			-	HGNC	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1370C>A	6.37:g.27222804C>A	ENSP00000230582:p.Ala457Asp	Somatic	1	108	0.92		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	O75416	Missense_Mutation	SNP							pfam_Peptidase_S28	p.A457D	ENST00000230582.3	37	c.1370	CCDS4623.1	6	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.242218	0.01481	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.13778	2.56;2.56	4.64	-0.413	0.12363	.	1.397340	0.04345	N	0.354765	T	0.01523	0.0049	N	0.03999	-0.3	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.005	T	0.43048	-0.9415	10	0.10377	T	0.69	-2.1371	8.5164	0.33248	0.6917:0.2228:0.0:0.0855	.	200;457	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	D	200;457	ENSP00000404349:A200D;ENSP00000230582:A457D	ENSP00000230582:A457D	A	+	2	0	PRSS16	27330783	0.000000	0.05858	0.012000	0.15200	0.622000	0.37654	0.348000	0.20031	-0.202000	0.10268	0.552000	0.68991	GCT	-	pfam_Peptidase_S28		0.562	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	protein_coding	OTTHUMT00000043418.2	C		-		27222804	1	no_errors	ENST00000230582	ensembl	human	known	74_37	missense	SNP	0.002	A	A	27222804	C	A	27222804	3	1	236	1	0	0	0	0	1	0	0	0	12621	797	28	3	1412	3	PRSS16	6	27222804	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		27222804	143892263	35	19131											
ZFP57	4340	genome.wustl.edu	37	chr6	29640430	29640430	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatagtggggacatcatgAgagaagccaagccactggcc	13	11	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr6:29640430A>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Silent_p.S466S|ZFP57_ENST00000376883.1_Silent_p.S466S|ZFP57_ENST00000488757.1_Silent_p.S486S	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGACATCATGAGAGAAGCCAA	0.567																																																	0								ENSG00000204644						57	63	61					6																	29640430		1271	2562	3833	ZFP57	SO:0001628	intergenic_variant	0			-	HGNC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640430A>G		Somatic	0	59	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	44	25.42	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S486	ENST00000376917.3	37	c.1458	CCDS34370.1	6																																																																																			-	NULL		0.567	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	protein_coding	OTTHUMT00000076160.3	A	NM_002433	-		29640430	-1	no_errors	ENST00000488757	ensembl	human	known	74_37	silent	SNP	0.000	G	G	29640430	A	G	29640430	1	3	236	0	1	0	0	0	0	0	0	0	17658	291	11	5		5	ZFP57	6	29640430	IGR	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	2417626	29640430	141474637	36	19132											
C6orf138	442213	genome.wustl.edu	37	chr6	47847610	47847610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctatcctgtctttgaaggGcaagttctctttggttctcc	9	10	3	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr6:47847610G>A	ENST00000339488.4	-	3	1003	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	324	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TCTTTGAAGGGCAAGTTCTCT	0.418																																																	0								ENSG00000244694						30	32	31					6																	47847610		2203	4299	6502	PTCHD4	SO:0001583	missense	0			-	HGNC		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.970C>T	6.37:g.47847610G>A	ENSP00000341914:p.Pro324Ser	Somatic	0	74	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.P324S	ENST00000339488.4	37	c.970	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	G	3.062	-0.192950	0.06259	.	.	ENSG00000244694	ENST00000339488	D	0.90788	-2.73	5.25	5.25	0.73442	Sterol-sensing domain (1);	.	.	.	.	T	0.77164	0.4090	N	0.21373	0.66	0.80722	D	1	B	0.18741	0.03	B	0.28465	0.09	T	0.74581	-0.3618	9	0.07482	T	0.82	.	18.8631	0.92281	0.0:0.0:1.0:0.0	.	324	Q6ZW05	CF138_HUMAN	S	324	ENSP00000341914:P324S	ENSP00000341914:P324S	P	-	1	0	C6orf138	47955569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.473000	0.83533	0.650000	0.86243	CCC	-	pfam_Patched,pfscan_SSD		0.418	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	protein_coding	OTTHUMT00000317987.2	G	NM_001013732	-		47847610	-1	no_errors	ENST00000339488	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47847610	G	A	47847610	3	1	236	1	0	0	0	0	1	0	0	0	2334	1203	42	2	1574	2	C6orf138	6	47847610	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	18207180	47847610	123267457	37	19133											
CNR1	1268	genome.wustl.edu	37	chr6	88854277	88854277	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaatggctatggtccacatCaggcaaaacgccaccacggc	9	14	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr6:88854277C>T	ENST00000537554.1	-	2	4279	c.717G>A	c.(715-717)ctG>ctA	p.L239L	CNR1_ENST00000535130.1_Silent_p.L239L|CNR1_ENST00000549716.1_Silent_p.L178L|CNR1_ENST00000468898.1_Silent_p.L206L|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.L239L|CNR1_ENST00000369501.2_Silent_p.L239L|CNR1_ENST00000549890.1_Silent_p.L239L|CNR1_ENST00000428600.2_Silent_p.L239L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGGTCCACATCAGGCAAAACG	0.542																																																	0								ENSG00000118432						71	66	68					6																	88854277		2203	4300	6503	CNR1	SO:0001819	synonymous_variant	0			-	HGNC	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.717G>A	6.37:g.88854277C>T		Somatic	0	34	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.L239	ENST00000537554.1	37	c.717	CCDS5015.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	protein_coding	OTTHUMT00000354204.2	C		-		88854277	-1	no_errors	ENST00000369499	ensembl	human	known	74_37	silent	SNP	1.000	T	T	88854277	C	T	88854277	2	4	236	1	0	0	0	0	0	0	0	1	3633	813	29	2		2	CNR1	6	88854277	Silent	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	41006667	88854277	82260790	38	19134											
REV3L	5980	genome.wustl.edu	37	chr6	111688940	111688940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcagtttcttggaacgTtcgtattcttctttggcttg	10	7	3	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr6:111688940T>C	ENST00000358835.3	-	15	6505	c.6051A>G	c.(6049-6051)gaA>gaG	p.E2017E	REV3L_ENST00000368802.3_Silent_p.E2017E|REV3L_ENST00000368805.1_Silent_p.E2017E|REV3L_ENST00000435970.1_Silent_p.E1939E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2017					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTGGAACGTTCGTATTCTT	0.418								DNA polymerases (catalytic subunits)																																									0								ENSG00000009413						145	138	141					6																	111688940		2203	4300	6503	REV3L	SO:0001819	synonymous_variant	0			-	HGNC	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6051A>G	6.37:g.111688940T>C		Somatic	0	66	0		0.635208746303704	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	O43214|Q5TC33	Silent	SNP							pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.E2017	ENST00000358835.3	37	c.6051	CCDS5091.2	6																																																																																			-	superfamily_RNaseH-like_dom		0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	T	NM_002912	-		111688940	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	silent	SNP	1.000	C	C	111688940	T	C	111688940	2	2	236	1	0	0	0	0	0	0	0	1	13248	1722	60	5		5	REV3L	6	111688940	Silent	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	22834663	111688940	59426127	39	19135											
FBXL18	80028	genome.wustl.edu	37	chr7	5540803	5540803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcgatgtcgtcctccGccttgcggagcagcgagtct	13	13	1	0	rs376586905		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr7:5540803G>A	ENST00000382368.3	-	3	1220	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A366V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	366									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)		GTCGTCCTCCGCCTTGCGGAG	0.667																																																	0								ENSG00000155034	G	VAL/ALA	0,4264		0,0,2132	21	28	26		1097	4.9	1	7		26	1,8499		0,1,4249	no	missense	FBXL18	NM_024963.4	64	0,1,6381	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	366/719	5540803	1,12763	2132	4250	6382	FBXL18	SO:0001583	missense	0			-	HGNC	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.1097C>T	7.37:g.5540803G>A	ENSP00000371805:p.Ala366Val	Somatic	0	19	0		0.635208746303704	7	22.22	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.A366V	ENST00000382368.3	37	c.1097	CCDS43546.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.62|16.62	3.175098|3.175098	0.57692|0.57692	0.0|0.0	1.18E-4|1.18E-4	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.50277|.	0.8;0.75|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.224065|.	0.46145|.	D|.	0.000309|.	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.27053|0.27053	0.805|0.805	0.35115|0.35115	D|D	0.766469|0.766469	P;D|.	0.61697|.	0.897;0.99|.	B;P|.	0.49332|.	0.127;0.607|.	T|T	0.57400|0.57400	-0.7818|-0.7818	10|5	0.72032|.	D|.	0.01|.	.|.	17.3775|17.3775	0.87396|0.87396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	366;366|.	F5H4Z4;Q96ME1-4|.	.;.|.	V|W	366|250	ENSP00000371805:A366V;ENSP00000444797:A366V|.	ENSP00000311990:A366V|.	A|R	-|-	2|1	0|2	FBXL18|FBXL18	5507329|5507329	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.981000|0.981000	0.71138|0.71138	5.035000|5.035000	0.64158|0.64158	2.428000|2.428000	0.82296|0.82296	0.585000|0.585000	0.79938|0.79938	GCG|CGG	-	NULL		0.667	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	protein_coding	OTTHUMT00000324093.1	G	NM_024963	-		5540803	-1	no_errors	ENST00000453700	ensembl	human	known	74_37	missense	SNP	0.981	A	A	5540803	G	A	5540803	3	1	236	1	0	0	0	0	1	0	0	0	5716	1087	38	1	1071	1	FBXL18	7	5540803	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09		5540803	153597860	40	19136											
CCDC146	57639	genome.wustl.edu	37	chr7	76889409	76889409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagttgaaaacaaggttaGtgctatagtggatgagaagg	14	2	0	2	rs560273200		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr7:76889409G>A	ENST00000285871.4	+	8	969	c.842G>A	c.(841-843)aGt>aAt	p.S281N	CCDC146_ENST00000415740.2_3'UTR|AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_Missense_Mutation_p.S27N	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	281										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AACAAGGTTAGTGCTATAGTG	0.363																																																	0								ENSG00000135205						95	97	97					7																	76889409		2203	4300	6503	CCDC146	SO:0001583	missense	0			-	HGNC	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.842G>A	7.37:g.76889409G>A	ENSP00000285871:p.Ser281Asn	Somatic	0	96	0		0.635208746303704	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	57	28.75	A8K8X6|Q9P223	Missense_Mutation	SNP							NULL	p.S281N	ENST00000285871.4	37	c.842	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.971026	0.00457	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.21191	2.02;2.57	5.62	0.861	0.19048	.	0.501323	0.24438	N	0.038529	T	0.07503	0.0189	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.37911	-0.9685	10	0.18710	T	0.47	-4.4866	9.5864	0.39519	0.7951:0.0:0.2049:0.0	.	27;281	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	N	281;27	ENSP00000285871:S281N;ENSP00000413885:S27N	ENSP00000285871:S281N	S	+	2	0	AC007000.1	76727345	0.119000	0.22226	0.000000	0.03702	0.013000	0.08279	1.374000	0.34283	0.003000	0.14656	0.650000	0.86243	AGT	-	NULL		0.363	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	protein_coding	OTTHUMT00000341449.1	G	NM_020879	-		76889409	1	no_errors	ENST00000285871	ensembl	human	known	74_37	missense	SNP	0.001	A	A	76889409	G	A	76889409	3	1	236	1	0	0	0	0	1	0	0	0	2782	1029	36	2	868	2	CCDC146	7	76889409	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	71348606	76889409	82249254	41	19137											
ACHE	43	genome.wustl.edu	37	chr7	100490238	100490238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggcctccctcaggcGtgccgggtcctcgggatgca	15	15	2	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr7:100490238G>A	ENST00000412389.1	-	2	1425	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Missense_Mutation_p.R424C|ACHE_ENST00000411582.1_Missense_Mutation_p.R424C|ACHE_ENST00000428317.1_Missense_Mutation_p.R424C|ACHE_ENST00000241069.5_Missense_Mutation_p.R424C|UFSP1_ENST00000388761.2_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	424					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TCCCTCAGGCGTGCCGGGTCC	0.697																																																	0								ENSG00000087085						24	26	25					7																	100490238		2203	4299	6502	ACHE	SO:0001583	missense	0			-	HGNC		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1270C>T	7.37:g.100490238G>A	ENSP00000394976:p.Arg424Cys	Somatic	0	125	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	68	13.92	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP							pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R424C	ENST00000412389.1	37	c.1270	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233581	0.39498	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	3.82	3.82	0.43975	Carboxylesterase, type B (1);	0.216426	0.37761	N	0.001960	T	0.73869	0.3642	M	0.70903	2.155	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.54372	0.75;0.717	T	0.67413	-0.5677	9	.	.	.	.	13.556	0.61759	0.0:0.0:1.0:0.0	.	424;424	P22303-2;P22303	.;ACES_HUMAN	C	424	ENSP00000241069:R424C;ENSP00000414858:R424C;ENSP00000303211:R424C;ENSP00000394976:R424C;ENSP00000404865:R424C	.	R	-	1	0	ACHE	100328174	0.000000	0.05858	0.321000	0.25320	0.965000	0.64279	0.494000	0.22467	2.143000	0.66587	0.491000	0.48974	CGC	-	pfam_CarbesteraseB		0.697	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	protein_coding	OTTHUMT00000347201.1	G	NM_015831	-		100490238	-1	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	SNP	0.075	A	A	100490238	G	A	100490238	3	1	236	1	0	0	0	0	1	0	0	0	141	1145	40	1	721	1	ACHE	7	100490238	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	23600829	100490238	58648425	42	19138											
MUC17	140453	genome.wustl.edu	37	chr7	100683989	100683989	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtaccagcatgccaatcTcaacttatagtgaaggaagc	9	9	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr7:100683989T>G	ENST00000306151.4	+	3	9356	c.9292T>G	c.(9292-9294)Tca>Gca	p.S3098A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3098	59 X approximate tandem repeats.|Ser-rich.				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)					CATGCCAATCTCAACTTATAG	0.488																																																	0								ENSG00000169876						262	266	265					7																	100683989		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	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.9292T>G	7.37:g.100683989T>G	ENSP00000302716:p.Ser3098Ala	Somatic	0	148	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	64	12.33	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3098A	ENST00000306151.4	37	c.9292	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	t	6.842	0.524518	0.13066	.	.	ENSG00000169876	ENST00000306151	T	0.02067	4.47	1.15	-0.265	0.12946	.	.	.	.	.	T	0.02304	0.0071	N	0.14661	0.345	0.09310	N	1	P	0.38711	0.643	P	0.51170	0.661	T	0.48043	-0.9069	9	0.13470	T	0.59	.	4.2476	0.10679	0.0:0.4653:0.0:0.5347	.	3098	Q685J3	MUC17_HUMAN	A	3098	ENSP00000302716:S3098A	ENSP00000302716:S3098A	S	+	1	0	MUC17	100470709	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.765000	0.04730	-0.050000	0.13356	0.102000	0.15555	TCA	-	NULL		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	T	NM_001040105	-		100683989	1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.001	G	G	100683989	T	G	100683989	3	3	236	1	0	0	0	0	1	0	0	0	9976	1551	54	5	9302	5	MUC17	7	100683989	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	193751	100683989	58454674	43	19139											
FZD3	7976	genome.wustl.edu	37	chr8	28384942	28384942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacattgtttactttttTaacttttttgattgatgtca	6	6	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr8:28384942T>C	ENST00000240093.3	+	5	1143	c.665T>C	c.(664-666)tTa>tCa	p.L222S	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.L222S	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	222					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTTACTTTTTTAACTTTTTTG	0.343																																																	0								ENSG00000104290						133	132	132					8																	28384942		2202	4300	6502	FZD3	SO:0001583	missense	0			-	HGNC	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.665T>C	8.37:g.28384942T>C	ENSP00000240093:p.Leu222Ser	Somatic	0	72	0		0.635208746303704	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	A8K615	Missense_Mutation	SNP							pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L222S	ENST00000240093.3	37	c.665	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447129	0.63178	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.82255	-1.59;-1.59	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000002	D	0.90321	0.6972	M	0.76002	2.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.91222	0.5007	10	0.62326	D	0.03	.	14.3288	0.66537	0.0:0.0:0.0:1.0	.	222	Q9NPG1	FZD3_HUMAN	S	222	ENSP00000437489:L222S;ENSP00000240093:L222S	ENSP00000240093:L222S	L	+	2	0	FZD3	28440861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	1.974000	0.57490	0.533000	0.62120	TTA	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.343	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	protein_coding	OTTHUMT00000219986.2	T	NM_145866	-		28384942	1	no_errors	ENST00000240093	ensembl	human	known	74_37	missense	SNP	1.000	C	C	28384942	T	C	28384942	3	2	236	1	0	0	0	0	1	0	0	0	6133	1764	61	5	675	5	FZD3	8	28384942	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09		28384942	117979080	44	19140											
PRDM14	63978	genome.wustl.edu	37	chr8	70981631	70981631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtaacagagaagcatcCgcagggggcggtggaattaa	15	7	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr8:70981631C>T	ENST00000276594.2	-	2	666	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	155					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGAAGCATCCGCAGGGGGCG	0.567																																					NSCLC(129;99 1813 5906 40656 46114)												0								ENSG00000147596						65	63	64					8																	70981631		2203	4300	6503	PRDM14	SO:0001819	synonymous_variant	0			-	HGNC	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.465G>A	8.37:g.70981631C>T		Somatic	0	91	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	26	64.86	Q86UX9	Silent	SNP							pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A155	ENST00000276594.2	37	c.465	CCDS6206.1	8																																																																																			-	NULL		0.567	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	protein_coding	OTTHUMT00000318505.1	C		-		70981631	-1	no_errors	ENST00000276594	ensembl	human	known	74_37	silent	SNP	0.001	T	T	70981631	C	T	70981631	2	4	236	1	0	0	0	0	0	0	0	1	12460	639	23	1		1	PRDM14	8	70981631	Silent	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	42596689	70981631	75382391	45	19141											
PHF20L1	51105	genome.wustl.edu	37	chr8	133816235	133816235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtatagccacaccagacGtagagaagaaggaagatctg	11	8	1	4	rs201918932		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr8:133816235G>A	ENST00000395386.2	+	7	978	c.679G>A	c.(679-681)Gta>Ata	p.V227I	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.V201I|PHF20L1_ENST00000395379.1_Missense_Mutation_p.V227I|PHF20L1_ENST00000395390.2_Missense_Mutation_p.V201I|PHF20L1_ENST00000395376.1_Missense_Mutation_p.V231I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	227							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CACACCAGACGTAGAGAAGAA	0.368																																																	0								ENSG00000129292	G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	98	84	89		601,679,679	0.3	0.2	8		89	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	PHF20L1	NM_198513.1,NM_032205.3,NM_016018.4	29,29,29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	201/286,227/574,227/1018	133816235	2,13002	2203	4299	6502	PHF20L1	SO:0001583	missense	0			-	HGNC	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.679G>A	8.37:g.133816235G>A	ENSP00000378784:p.Val227Ile	Somatic	0	75	0		0.635208746303704	34	35.85	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP							pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.V201I	ENST00000395386.2	37	c.601	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	3.788	-0.044181	0.07452	0.0	2.33E-4	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.45276	0.96;0.9;0.97;1.49;0.9;0.96;0.94;1.53	5.29	0.265	0.15612	.	0.783877	0.12375	N	0.474424	T	0.15782	0.0380	N	0.04508	-0.205	0.09310	N	0.999997	B;B;B;B;B	0.11235	0.001;0.004;0.004;0.003;0.0	B;B;B;B;B	0.09377	0.001;0.004;0.002;0.002;0.001	T	0.29088	-1.0023	10	0.10902	T	0.67	-1.6761	4.9743	0.14133	0.3788:0.0:0.4908:0.1304	.	201;66;227;227;201	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	I	231;227;201;227;227;201;231;97;201;66	ENSP00000378781:V231I;ENSP00000378777:V227I;ENSP00000355301:V201I;ENSP00000378784:V227I;ENSP00000324519:V227I;ENSP00000338269:V201I;ENSP00000378775:V231I;ENSP00000378788:V201I	ENSP00000324519:V227I	V	+	1	0	PHF20L1	133885417	0.195000	0.23338	0.155000	0.22561	0.779000	0.44077	0.194000	0.17135	-0.011000	0.14247	-0.225000	0.12378	GTA	-	pfam_DUF3776		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	protein_coding	OTTHUMT00000308949.3	G	NM_016018	rs201918932		133816235	1	no_errors	ENST00000486199	ensembl	human	known	74_37	missense	SNP	0.061	A	A	133816235	G	A	133816235	3	1	236	1	0	0	0	0	1	0	0	0	11834	1145	40	1	701	1	PHF20L1	8	133816235	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	62834604	133816235	12547787	46	19142											
MPDZ	8777	genome.wustl.edu	37	chr9	13175821	13175821	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagatacattttgaagcatGacacactcagcattacaggc	7	9	1	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:13175821G>A	ENST00000319217.7	-	21	3232	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V	MPDZ_ENST00000536827.1_Silent_p.V995V|MPDZ_ENST00000447879.1_Silent_p.V995V|MPDZ_ENST00000546205.1_Silent_p.V995V|MPDZ_ENST00000381022.2_Silent_p.V995V|MPDZ_ENST00000381015.4_Silent_p.V995V|MPDZ_ENST00000541718.1_Silent_p.V995V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	995					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)		TTTGAAGCATGACACACTCAG	0.383																																																	0								ENSG00000107186						51	48	49					9																	13175821		1855	4097	5952	MPDZ	SO:0001819	synonymous_variant	0			-	HGNC	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.2985C>T	9.37:g.13175821G>A		Somatic	0	89	0		0.635208746303704	0	100	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	125	6	95.42	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP							pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V995	ENST00000319217.7	37	c.2985		9																																																																																			-	superfamily_PDZ		0.383	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	G	NM_003829	-		13175821	-1	no_errors	ENST00000319217	ensembl	human	known	74_37	silent	SNP	0.001	A	A	13175821	G	A	13175821	2	1	236	1	0	0	0	0	0	0	0	1	9724	1277	45	2		2	MPDZ	9	13175821	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09		13175821	128037610	47	19143											
IFNA8	3445	genome.wustl.edu	37	chr9	21409413	21409413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcaagccatctctgtcCtccatgagatgatccagcag	9	13	2	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:21409413C>T	ENST00000380205.1	+	1	268	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	80					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CATCTCTGTCCTCCATGAGAT	0.463																																																	0								ENSG00000120242						100	94	96					9																	21409413		2203	4300	6503	IFNA8	SO:0001583	missense	0			-	HGNC		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"Interferons"	5429	protein-coding gene	gene with protein product	"interferon alpha-B''", "interferon alpha type 201"	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.238C>T	9.37:g.21409413C>T	ENSP00000369553:p.Leu80Phe	Somatic	0	149	0		0.635208746303704	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	43	67.67	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP							pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L80F	ENST00000380205.1	37	c.238	CCDS6507.1	9	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802417	0.31869	.	.	ENSG00000120242	ENST00000380205	T	0.04551	3.6	3.57	0.492	0.16872	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.829753	0.10704	N	0.643733	T	0.11239	0.0274	M	0.67517	2.055	0.09310	N	1	B	0.18166	0.026	B	0.35655	0.207	T	0.39292	-0.9621	10	0.62326	D	0.03	.	14.6341	0.68676	0.0:0.8301:0.1699:0.0	.	80	P32881	IFNA8_HUMAN	F	80	ENSP00000369553:L80F	ENSP00000369553:L80F	L	+	1	0	IFNA8	21399413	0.000000	0.05858	0.002000	0.10522	0.951000	0.60555	-2.350000	0.01092	-0.009000	0.14296	0.561000	0.74099	CTC	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.463	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	protein_coding	OTTHUMT00000051906.1	C	NM_002170	-		21409413	1	no_errors	ENST00000380205	ensembl	human	known	74_37	missense	SNP	0.007	T	T	21409413	C	T	21409413	3	4	236	1	0	0	0	0	1	0	0	0	7545	681	24	2	240	2	IFNA8	9	21409413	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	8233592	21409413	119804018	48	19144											
LINGO2	158038	genome.wustl.edu	37	chr9	27949775	27949775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactatatgaagctcctgaaGgcggatcaggtcagagaaca	11	9	2	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:27949775G>T	ENST00000379992.2	-	6	1344	c.895C>A	c.(895-897)Ctt>Att	p.L299I	LINGO2_ENST00000308675.3_Missense_Mutation_p.L299I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	299						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGCTCCTGAAGGCGGATCAGG	0.522																																																	0								ENSG00000174482						118	119	119					9																	27949775		2203	4300	6503	LINGO2	SO:0001583	missense	0			-	HGNC	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.895C>A	9.37:g.27949775G>T	ENSP00000369328:p.Leu299Ile	Somatic	0	80	0		0.635208746303704	0	100	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	19	70.77	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L299I	ENST00000379992.2	37	c.895	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294448	0.60086	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.93811	-3.29;-3.29	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96830	0.9610	9	.	.	.	.	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	299	Q7L985	LIGO2_HUMAN	I	299	ENSP00000369328:L299I;ENSP00000310126:L299I	.	L	-	1	0	LINGO2	27939775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.767000	0.68850	2.824000	0.97209	0.655000	0.94253	CTT	-	smart_Leu-rich_rpt_typical-subtyp		0.522	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	protein_coding	OTTHUMT00000051978.2	G	NM_152570	-		27949775	-1	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27949775	G	T	27949775	3	4	236	1	0	0	0	0	1	0	0	0	8817	1000	35	3	929	3	LINGO2	9	27949775	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	6540362	27949775	113263656	49	19145											
APBA1	320	genome.wustl.edu	37	chr9	72056032	72056032	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggactgattctttaagccCttaaacatgaataaagtaca	7	8	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:72056032C>G	ENST00000265381.4	-	11	2404		c.e11-1			NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1						axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCTTTAAGCCCTTAAACATGA	0.473																																																	0								ENSG00000107282						109	95	100					9																	72056032		2203	4300	6503	APBA1	SO:0001630	splice_region_variant	0			-	HGNC	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2182-1G>C	9.37:g.72056032C>G		Somatic	0	55	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	O14914|O60570|Q5VYR8	Splice_Site	SNP							-	e10-1	ENST00000265381.4	37	c.2182-1	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493200	0.84962	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APBA1	71245852	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.711000	0.84669	2.793000	0.96121	0.655000	0.94253	.	-	-		0.473	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	protein_coding	OTTHUMT00000052589.2	C	NM_001163	-	Intron	72056032	-1	no_errors	ENST00000265381	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	72056032	C	G	72056032	5	3	236	1	0	0	0	0	0	0	1	0	756	695	24	4	344	4	APBA1	9	72056032	Splice_Site	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	44106257	72056032	69157399	50	19146											
DAPK1	1612	genome.wustl.edu	37	chr9	90252979	90252979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcactcccttcaaatcGcccactttgatcttaaggta	5	14	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:90252979G>A	ENST00000408954.3	+	4	741	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	DAPK1_ENST00000358077.5_Missense_Mutation_p.A136T|DAPK1_ENST00000469640.2_Missense_Mutation_p.A136T|DAPK1_ENST00000491893.1_Missense_Mutation_p.A136T|DAPK1_ENST00000472284.1_Missense_Mutation_p.A136T	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTTCAAATCGCCCACTTTGA	0.393									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								ENSG00000196730						91	83	86					9																	90252979		1908	4128	6036	DAPK1	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	-	HGNC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.406G>A	9.37:g.90252979G>A	ENSP00000386135:p.Ala136Thr	Somatic	1	130	0.76		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	99	22.66	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.A136T	ENST00000408954.3	37	c.406	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873645	0.91664	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.5	5.5	0.81552	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	0.48286	D	0.000194	T	0.55065	0.1897	L	0.53617	1.68	0.80722	D	1	D;P;D	0.65815	0.995;0.953;0.99	P;P;P	0.53954	0.738;0.633;0.567	T	0.55515	-0.8129	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	136;136;136	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	T	136	ENSP00000350785:A136T;ENSP00000417076:A136T;ENSP00000418885:A136T;ENSP00000386135:A136T;ENSP00000419026:A136T	ENSP00000350785:A136T	A	+	1	0	DAPK1	89442799	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.671000	0.83941	2.861000	0.98227	0.655000	0.94253	GCC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.393	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	G	NM_004938	-		90252979	1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	SNP	1.000	A	A	90252979	G	A	90252979	3	1	236	1	0	0	0	0	1	0	0	0	4237	1087	38	1	416	1	DAPK1	9	90252979	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	18196947	90252979	50960452	51	19147											
CYLC2	1539	genome.wustl.edu	37	chr9	105767425	105767425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaggatgcagagaaggGcaaagactcagcaacagaat	11	6	1	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:105767425G>A	ENST00000374798.3	+	5	582	c.512G>A	c.(511-513)gGc>gAc	p.G171D	CYLC2_ENST00000487798.1_Missense_Mutation_p.G171D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	171	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				gcagagaagggcaaagactca	0.348																																																	0								ENSG00000155833						75	72	73					9																	105767425		2203	4300	6503	CYLC2	SO:0001583	missense	0			-	HGNC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.512G>A	9.37:g.105767425G>A	ENSP00000420256:p.Gly171Asp	Somatic	0	44	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2R8F4|Q5VVJ9	Missense_Mutation	SNP							NULL	p.G171D	ENST00000374798.3	37	c.512	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	8.979	0.974767	0.18736	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14022	2.54;2.54	4.54	-2.69	0.06022	.	0.310345	0.23354	N	0.049095	T	0.11110	0.0271	M	0.79258	2.445	0.21220	N	0.999751	P	0.40107	0.703	B	0.38562	0.276	T	0.18116	-1.0347	10	0.20519	T	0.43	-0.9296	1.07	0.01619	0.3371:0.2622:0.2669:0.1338	.	171	Q14093	CYLC2_HUMAN	D	171	ENSP00000420256:G171D;ENSP00000417674:G171D	ENSP00000420256:G171D	G	+	2	0	CYLC2	104807246	0.000000	0.05858	0.033000	0.17914	0.038000	0.13279	-0.677000	0.05215	-0.279000	0.09167	0.543000	0.68304	GGC	-	NULL		0.348	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	G	NM_001340	-		105767425	1	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	SNP	0.006	A	A	105767425	G	A	105767425	3	1	236	1	0	0	0	0	1	0	0	0	4144	1203	42	2	530	2	CYLC2	9	105767425	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	15514446	105767425	35446006	52	19148											
DBC1	1620	genome.wustl.edu	37	chr9	122011259	122011259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaatgtggctgagatgaGcaggtgggtgccgtactttt	14	8	0	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr9:122011259G>A	ENST00000265922.3	-	3	849	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	BRINP1_ENST00000373964.2_Missense_Mutation_p.L130F	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	130	MACPF.				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)											GCTGAGATGAGCAGGTGGGTG	0.542																																																	0								ENSG00000078725						118	82	94					9																	122011259		2203	4300	6503	BRINP1	SO:0001583	missense	0			-	HGNC	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.388C>T	9.37:g.122011259G>A	ENSP00000265922:p.Leu130Phe	Somatic	0	69	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	20	61.54	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP							pfam_MACPF,smart_MACPF	p.L130F	ENST00000265922.3	37	c.388	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631150	0.87660	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.85861	-2.04;-2.04	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	L	0.61218	1.895	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.95	D	0.91581	0.5279	10	0.87932	D	0	-23.2241	20.1076	0.97898	0.0:0.0:1.0:0.0	.	130;130	O60477-2;O60477	.;DBC1_HUMAN	F	130	ENSP00000265922:L130F;ENSP00000363075:L130F	ENSP00000265922:L130F	L	-	1	0	DBC1	121051080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.645000	0.74343	2.823000	0.97156	0.650000	0.86243	CTC	-	pfam_MACPF,smart_MACPF		0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	protein_coding	OTTHUMT00000055440.2	G	NM_014618	-		122011259	-1	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	SNP	1.000	A	A	122011259	G	A	122011259	3	1	236	1	0	0	0	0	1	0	0	0	4249	971	34	2	1921	2	DBC1	9	122011259	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	16243834	122011259	19202172	53	19149											
LARP4B	23185	genome.wustl.edu	37	chr10	863681	863681	+	Frame_Shift_Del	DEL	C	C	-													ttaccctttctttggatggtCctattatcaagctagatagc							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr10:863681delC	ENST00000316157.3	-	14	1719	c.1679delG	c.(1678-1680)ggafs	p.G560fs	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	560					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)			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						TTTGGATGGTCCTATTATCAA	0.473																																																	0								ENSG00000107929						232	246	241					10																	863681		2203	4300	6503	LARP4B	SO:0001589	frameshift_variant	0				HGNC	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.1679delG	10.37:g.863681delC	ENSP00000326128:p.Gly560fs	Somatic	0	93	0		0.635208746303704	12	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL							pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.G560fs	ENST00000316157.3	37	c.1679	CCDS31131.1	10																																																																																			-	NULL		0.473	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	protein_coding	OTTHUMT00000046395.2	C	NM_015155			863681	-1	no_errors	ENST00000316157	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	863681	C	-	863681	7	5	236	1	0	1	0	1	0	0	0	0	8633	855	30	0	553	0	LARP4B	10	863681	Frame_Shift_Del	DEL	C	TCGA-X6-A8C4-01A-11D-A36J-09		863681	134671066	54	19150											
IDI1	3422	genome.wustl.edu	37	chr10	1087240	1087240	+	Frame_Shift_Del	DEL	T	T	-													aaaccatggcgttatcttaaTttcaccactggctgcttttt							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr10:1087240delT	ENST00000381344.3	-	5	908	c.742delA	c.(742-744)attfs	p.I248fs	IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	191					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GTTATCTTAATTTCACCACTG	0.328																																																	0								ENSG00000067064						76	75	76					10																	1087240		2202	4297	6499	IDI1	SO:0001589	frameshift_variant	0				HGNC	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.742delA	10.37:g.1087240delT	ENSP00000370748:p.Ile248fs	Somatic	0	96	0		0.635208746303704	94	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Frame_Shift_Del	DEL							pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.I248fs	ENST00000381344.3	37	c.742	CCDS7056.1	10																																																																																			-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.328	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	protein_coding	OTTHUMT00000046409.2	T	NM_004508			1087240	-1	no_errors	ENST00000381344	ensembl	human	known	74_37	frame_shift_del	DEL	0.884	-	-	1087240	T	-	1087240	7	5	236	1	0	1	0	1	0	0	0	0	7501	1493	52	0	116	0	IDI1	10	1087240	Frame_Shift_Del	DEL	T	TCGA-X6-A8C4-01A-11D-A36J-09	223559	1087240	134447507	55	19151											
OPN4	94233	genome.wustl.edu	37	chr10	88422052	88422052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctgggggtgctgctgGgtgtatcacgccggcacagt	16	12	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr10:88422052G>T	ENST00000241891.5	+	8	1284	c.1117G>T	c.(1117-1119)Ggt>Tgt	p.G373C	OPN4_ENST00000372071.2_Missense_Mutation_p.G384C	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	373					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGTGCTGCTGGGTGTATCACG	0.667																																																	0								ENSG00000122375						32	26	28					10																	88422052		2203	4299	6502	OPN4	SO:0001583	missense	0			-	HGNC	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1117G>T	10.37:g.88422052G>T	ENSP00000241891:p.Gly373Cys	Somatic	0	122	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	76	12.64	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.G384C	ENST00000241891.5	37	c.1150	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318495	0.40996	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.37752	1.18;1.18;1.18	5.39	3.43	0.39272	.	0.395852	0.26496	N	0.024046	T	0.24236	0.0587	L	0.41492	1.28	0.41204	D	0.986392	B;B;B	0.16166	0.005;0.009;0.016	B;B;B	0.17979	0.006;0.006;0.02	T	0.29243	-1.0018	10	0.51188	T	0.08	.	2.7608	0.05306	0.2396:0.0:0.5208:0.2395	.	384;373;384	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	C	384;373;384	ENSP00000361141:G384C;ENSP00000241891:G373C;ENSP00000393132:G384C	ENSP00000241891:G373C	G	+	1	0	OPN4	88412032	0.967000	0.33354	0.965000	0.40720	0.970000	0.65996	1.561000	0.36342	2.528000	0.85240	0.655000	0.94253	GGT	-	NULL		0.667	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	protein_coding	OTTHUMT00000049158.2	G	NM_033282	-		88422052	1	no_errors	ENST00000372071	ensembl	human	known	74_37	missense	SNP	0.973	T	T	88422052	G	T	88422052	3	4	236	1	0	0	0	0	1	0	0	0	10884	1232	43	3	1184	3	OPN4	10	88422052	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	87334812	88422052	47112695	56	19152											
LRRC56	115399	genome.wustl.edu	37	chr11	541546	541546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctacagcaggccctgGcccgggtggatgaccttcgg	15	12	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr11:541546G>A	ENST00000270115.7	+	5	687	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	63										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCCCTGGCCCGGGTGGA	0.637																																																	0								ENSG00000161328						95	90	91					11																	541546		2203	4300	6503	LRRC56	SO:0001583	missense	0			-	HGNC		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.187G>A	11.37:g.541546G>A	ENSP00000270115:p.Ala63Thr	Somatic	0	61	0		0.635208746303704	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q8N3Q4	Missense_Mutation	SNP							NULL	p.A63T	ENST00000270115.7	37	c.187	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562496	0.27915	.	.	ENSG00000161328	ENST00000270115	T	0.08720	3.06	4.66	4.66	0.58398	.	0.211927	0.41194	D	0.000937	T	0.04952	0.0133	L	0.29908	0.895	0.33834	D	0.630571	B	0.26512	0.151	B	0.16722	0.016	T	0.13845	-1.0494	10	0.05833	T	0.94	-24.2374	8.6314	0.33922	0.1019:0.0:0.8981:0.0	.	63	Q8IYG6	LRC56_HUMAN	T	63	ENSP00000270115:A63T	ENSP00000270115:A63T	A	+	1	0	LRRC56	531546	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.489000	0.45285	2.418000	0.82041	0.591000	0.81541	GCC	-	NULL		0.637	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	protein_coding	OTTHUMT00000254969.1	G	NM_198075	-		541546	1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	SNP	1.000	A	A	541546	G	A	541546	3	1	236	1	0	0	0	0	1	0	0	0	9014	1203	42	2	193	2	LRRC56	11	541546	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09		541546	134464970	57	19153											
USP47	55031	genome.wustl.edu	37	chr11	11976640	11976640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcatcaggatttagactgGaatcctaaagtttctaccct	6	9	3	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr11:11976640G>T	ENST00000399455.2	+	28	4002	c.3882G>T	c.(3880-3882)tgG>tgT	p.W1294C	USP47_ENST00000305481.6_3'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.W1206C|USP47_ENST00000539466.1_Missense_Mutation_p.W76C|USP47_ENST00000527733.1_Missense_Mutation_p.W1274C	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1294					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ATTTAGACTGGAATCCTAAAG	0.358																																																	0								ENSG00000170242						162	149	153					11																	11976640		1841	4096	5937	USP47	SO:0001583	missense	0			-	HGNC	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3882G>T	11.37:g.11976640G>T	ENSP00000382382:p.Trp1294Cys	Somatic	0	74	0		0.635208746303704	93	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.W1294C	ENST00000399455.2	37	c.3882		11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603734	0.87157	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000539466;ENST00000399455	T;T;T	0.17054	2.32;2.31;2.3	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.27020	-1.0086	10	0.87932	D	0	.	19.9763	0.97309	0.0:0.0:1.0:0.0	.	1274;1206	E9PM46;Q96K76-2	.;.	C	1206;1274;76;1294	ENSP00000339957:W1206C;ENSP00000433146:W1274C;ENSP00000382382:W1294C	ENSP00000339957:W1206C	W	+	3	0	USP47	11933216	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.821000	0.97095	0.650000	0.86243	TGG	-	NULL		0.358	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	protein_coding	OTTHUMT00000385853.2	G	NM_017944	-		11976640	1	no_errors	ENST00000399455	ensembl	human	known	74_37	missense	SNP	1.000	T	T	11976640	G	T	11976640	3	4	236	1	0	0	0	0	1	0	0	0	17085	1183	41	3	3720	3	USP47	11	11976640	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	11435094	11976640	123029876	58	19154											
CASP5	838	genome.wustl.edu	37	chr11	104868114	104868114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatggaagcttaccttcCgaaatatttccattaggtgg	10	7	0	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr11:104868114C>T	ENST00000260315.3	-	8	1201	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	CASP5_ENST00000531367.1_Missense_Mutation_p.R259Q|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.R259Q|CASP5_ENST00000393141.2_Missense_Mutation_p.R414Q|CASP5_ENST00000526056.1_Missense_Mutation_p.R414Q|CASP5_ENST00000444749.2_Missense_Mutation_p.R343Q			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	401					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCTTACCTTCCGAAATATTTC	0.388																																																	0								ENSG00000137757						90	88	88					11																	104868114		2202	4299	6501	CASP5	SO:0001583	missense	0			-	HGNC		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.1202G>A	11.37:g.104868114C>T	ENSP00000260315:p.Arg401Gln	Somatic	0	113	0		0.635208746303704	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	31	47.46	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP							pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R414Q	ENST00000260315.3	37	c.1241	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803843	0.31869	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.03152	4.03;4.03;4.03;4.03;4.03;4.03	3.6	-7.01	0.01594	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.527934	0.18195	N	0.148715	T	0.02929	0.0087	L	0.45744	1.44	0.09310	N	1	B;P;B;B	0.49696	0.278;0.927;0.1;0.153	B;P;B;B	0.44518	0.192;0.452;0.291;0.204	T	0.08848	-1.0702	10	0.30078	T	0.28	.	4.268	0.10773	0.2361:0.3596:0.0:0.4042	.	259;343;401;414	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	Q	414;259;401;343;414;259	ENSP00000376849:R414Q;ENSP00000398130:R259Q;ENSP00000260315:R401Q;ENSP00000388365:R343Q;ENSP00000436877:R414Q;ENSP00000434471:R259Q	ENSP00000260315:R401Q	R	-	2	0	CASP5	104373324	0.002000	0.14202	0.005000	0.12908	0.186000	0.23388	-0.471000	0.06631	-1.358000	0.02177	-0.412000	0.06146	CGG	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10		0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	protein_coding	OTTHUMT00000109397.2	C	NM_004347	-		104868114	-1	no_errors	ENST00000393141	ensembl	human	known	74_37	missense	SNP	0.001	T	T	104868114	C	T	104868114	3	4	236	1	0	0	0	0	1	0	0	0	2676	652	23	1	110	1	CASP5	11	104868114	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	92891474	104868114	30138402	59	19155											
MLL	4297	genome.wustl.edu	37	chr11	118376882	118376882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactgctgcaataacagcGgcatctagcatctgtgtgct	9	11	3	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr11:118376882G>A	ENST00000389506.5	+	27	10266	c.10266G>A	c.(10264-10266)gcG>gcA	p.A3422A	KMT2A_ENST00000534358.1_Silent_p.A3425A|KMT2A_ENST00000354520.4_Silent_p.A3384A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3422					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAATAACAGCGGCATCTAGCA	0.547																																																	0								ENSG00000118058						94	91	92					11																	118376882		2200	4295	6495	KMT2A	SO:0001819	synonymous_variant	0			-	HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10266G>A	11.37:g.118376882G>A		Somatic	0	25	0		0.635208746303704	1	95.45	21	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	1	90.00	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP							pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.A3422	ENST00000389506.5	37	c.10266	CCDS31686.1	11																																																																																			-	pirsf_MeTrfase_trithorax		0.547	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	G	NM_005933	-		118376882	1	no_errors	ENST00000389506	ensembl	human	known	74_37	silent	SNP	0.074	A	A	118376882	G	A	118376882	2	1	236	1	0	0	0	0	0	0	0	1	9622	1103	39	1		1	MLL	11	118376882	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	13508768	118376882	16629634	60	19156											
PKNOX2	63876	genome.wustl.edu	37	chr11	125301193	125301195	+	In_Frame_Del	DEL	GAG	GAG	-													aggatgaggatgagatggaaGaggaggaggaggaggagctg					rs397840770|rs397849304|rs3832749	byFrequency	TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr11:125301193_125301195delGAG	ENST00000298282.9	+	13	1595_1597	c.1324_1326delGAG	c.(1324-1326)gagdel	p.E447del	PKNOX2_ENST00000542175.1_In_Frame_Del_p.E383del|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	447	Asp/Glu-rich (acidic).		Missing. {ECO:0000269|PubMed:15489334}.		regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		tgagatggaagaggaggaggagg	0.571														294	0.0587061	0.0129	0.0576	5008	,	,		20223	0.0744		0.1123	False		,,,				2504	0.0501																0								ENSG00000165495																																			PKNOX2	SO:0001651	inframe_deletion	0				HGNC	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1324_1326delGAG	11.37:g.125301202_125301204delGAG	ENSP00000298282:p.Glu447del	Somatic	0	41	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	In_Frame_Del	DEL							pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.E445in_frame_del	ENST00000298282.9	37	c.1324_1326	CCDS41730.1	11																																																																																			-	NULL		0.571	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	protein_coding	OTTHUMT00000386866.3	GAG				125301195	1	no_errors	ENST00000298282	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	125301195	GAG	-	125301193	7	5	236	1	0	1	0	1	0	0	0	0	11985	943	33	0	1362	0	PKNOX2	11	125301193	In_Frame_Del	DEL	GAG	TCGA-X6-A8C4-01A-11D-A36J-09	6924311	125301193	9705323	61	19157											
LAG3	3902	genome.wustl.edu	37	chr12	6883914	6883914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccccatcaccacttagCggaaagcttcctcttcctgc	6	18	2	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr12:6883914C>T	ENST00000203629.2	+	4	998	c.665C>T	c.(664-666)gCg>gTg	p.A222V	LAG3_ENST00000441671.2_Missense_Mutation_p.A222V	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	222	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CACCACTTAGCGGAAAGCTTC	0.627																																																	0								ENSG00000089692						74	74	74					12																	6883914		2203	4300	6503	LAG3	SO:0001583	missense	0			-	HGNC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.665C>T	12.37:g.6883914C>T	ENSP00000203629:p.Ala222Val	Somatic	0	113	0		0.635208746303704	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	70	33.96	A8K7T9|Q7Z643	Missense_Mutation	SNP							smart_Ig_sub,pfscan_Ig-like_dom	p.A222V	ENST00000203629.2	37	c.665	CCDS8561.1	12	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168796	0.21621	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.14893	2.47;2.75	5.06	-3.77	0.04346	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.793216	0.11197	N	0.589247	T	0.06416	0.0165	N	0.12746	0.255	0.09310	N	1	B;B	0.18310	0.011;0.027	B;B	0.15484	0.013;0.013	T	0.33033	-0.9884	10	0.28530	T	0.3	0.0922	2.3737	0.04337	0.1217:0.3348:0.1201:0.4234	.	222;222	P18627;Q7Z643	LAG3_HUMAN;.	V	222	ENSP00000413825:A222V;ENSP00000203629:A222V	ENSP00000203629:A222V	A	+	2	0	LAG3	6754175	0.000000	0.05858	0.000000	0.03702	0.742000	0.42306	-1.449000	0.02392	-0.669000	0.05289	0.313000	0.20887	GCG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.627	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	protein_coding	OTTHUMT00000402846.1	C		-		6883914	1	no_errors	ENST00000203629	ensembl	human	known	74_37	missense	SNP	0.000	T	T	6883914	C	T	6883914	3	4	236	1	0	0	0	0	1	0	0	0	8602	768	27	1	679	1	LAG3	12	6883914	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		6883914	126967981	62	19158											
KRT6B	3854	genome.wustl.edu	37	chr12	52844289	52844289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcctcctgaggttgTtgatgtactgctcgaacaac	10	12	0	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr12:52844289T>C	ENST00000252252.3	-	2	703	c.656A>G	c.(655-657)aAc>aGc	p.N219S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	219	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCTGAGGTTGTTGATGTACTG	0.577																																																	0								ENSG00000185479						153	150	151					12																	52844289		2203	4300	6503	KRT6B	SO:0001583	missense	0			-	HGNC	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.656A>G	12.37:g.52844289T>C	ENSP00000252252:p.Asn219Ser	Somatic	0	153	0		0.635208746303704	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	83	17.00	P48669	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.N219S	ENST00000252252.3	37	c.656	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.755712	0.00663	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.74315	-0.83	2.77	0.209	0.15226	Filament (1);	0.494750	0.20058	N	0.100142	T	0.43545	0.1252	N	0.10733	0.035	0.25162	N	0.990349	B	0.25007	0.116	B	0.26517	0.07	T	0.36237	-0.9756	10	0.06099	T	0.92	.	4.3236	0.11029	0.0:0.3043:0.1704:0.5253	.	219	P04259	K2C6B_HUMAN	S	219	ENSP00000252252:N219S	ENSP00000252252:N219S	N	-	2	0	KRT6B	51130556	0.002000	0.14202	0.982000	0.44146	0.338000	0.28826	-1.825000	0.01707	0.042000	0.15717	0.248000	0.18094	AAC	-	pfam_IF		0.577	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	protein_coding	OTTHUMT00000404969.1	T	NM_005555	-		52844289	-1	no_errors	ENST00000252252	ensembl	human	known	74_37	missense	SNP	0.994	C	C	52844289	T	C	52844289	3	2	236	1	0	0	0	0	1	0	0	0	8483	1725	60	5	1070	5	KRT6B	12	52844289	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	45960375	52844289	81007606	63	19159											
PIWIL1	9271	genome.wustl.edu	37	chr12	130851778	130851778	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacttcctggaacagttattGatgtagaggttaccagacca	9	9	0	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr12:130851778G>A	ENST00000245255.3	+	19	2568	c.2296G>A	c.(2296-2298)Gat>Aat	p.D766N	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	766	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AACAGTTATTGATGTAGAGGT	0.438																																																	0								ENSG00000125207						142	130	134					12																	130851778		2203	4300	6503	PIWIL1	SO:0001583	missense	0			-	HGNC	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2296G>A	12.37:g.130851778G>A	ENSP00000245255:p.Asp766Asn	Somatic	0	74	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.00	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP							pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.D766N	ENST00000245255.3	37	c.2296	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937363	0.73557	.	.	ENSG00000125207	ENST00000245255	T	0.46063	0.88	5.88	5.88	0.94601	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	H	0.95437	3.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.952	T	0.82946	-0.0205	10	0.87932	D	0	-5.5109	19.2068	0.93734	0.0:0.0:1.0:0.0	.	766;766	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	766	ENSP00000245255:D766N	ENSP00000245255:D766N	D	+	1	0	PIWIL1	129417731	1.000000	0.71417	0.767000	0.31495	0.031000	0.12232	9.593000	0.98250	2.780000	0.95670	0.655000	0.94253	GAT	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.438	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	protein_coding	OTTHUMT00000399510.1	G		-		130851778	1	no_errors	ENST00000245255	ensembl	human	known	74_37	missense	SNP	1.000	A	A	130851778	G	A	130851778	3	1	236	1	0	0	0	0	1	0	0	0	11959	1290	45	2	2366	2	PIWIL1	12	130851778	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	78007489	130851778	3000117	64	19160											
ZMYM2	7750	genome.wustl.edu	37	chr13	20567661	20567661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagactaaaaacagaaCcaatgatgtggatttctcca	7	9	1	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr13:20567661C>A	ENST00000382874.2	+	4	639	c.449C>A	c.(448-450)aCc>aAc	p.T150N	ZMYM2_ENST00000382881.3_Missense_Mutation_p.T150N|ZMYM2_ENST00000382869.3_Missense_Mutation_p.T150N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T150N	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAAAACAGAACCAATGATGTG	0.383																																																	0								ENSG00000121741						111	118	116					13																	20567661		2133	4269	6402	ZMYM2	SO:0001583	missense	0			-	HGNC	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.449C>A	13.37:g.20567661C>A	ENSP00000372327:p.Thr150Asn	Somatic	0	79	0		0.635208746303704	7	41.67	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.T150N	ENST00000382874.2	37	c.449	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978423	0.34942	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.39	4.53	0.55603	.	0.270971	0.31963	N	0.006796	T	0.45994	0.1370	L	0.52573	1.65	0.80722	D	1	B;B;D	0.63880	0.278;0.238;0.993	B;B;D	0.63703	0.115;0.058;0.917	T	0.27191	-1.0081	10	0.23891	T	0.37	-4.3271	15.6172	0.76775	0.1387:0.8613:0.0:0.0	.	150;150;150	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	N	150	ENSP00000372322:T150N;ENSP00000372334:T150N;ENSP00000372327:T150N;ENSP00000372324:T150N	ENSP00000372322:T150N	T	+	2	0	ZMYM2	19465661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.819000	0.48049	1.351000	0.45789	0.650000	0.86243	ACC	-	NULL		0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	protein_coding	OTTHUMT00000044051.2	C	NM_003453	-		20567661	1	no_errors	ENST00000382869	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20567661	C	A	20567661	3	1	236	1	0	0	0	0	1	0	0	0	17707	507	18	3	451	3	ZMYM2	13	20567661	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		20567661	94602217	65	19161											
ATP12A	479	genome.wustl.edu	37	chr13	25259493	25259493	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agggaattggaagagaaataTggcacagacatcattatggt	12	4	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr13:25259493T>A	ENST00000381946.3	+	3	377	c.210T>A	c.(208-210)taT>taA	p.Y70*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.Y70*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	70					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAGAGAAATATGGCACAGACA	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)												0								ENSG00000075673						112	110	111					13																	25259493		2203	4300	6503	ATP12A	SO:0001587	stop_gained	0			-	HGNC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.210T>A	13.37:g.25259493T>A	ENSP00000371372:p.Tyr70*	Somatic	0	74	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.Y70*	ENST00000381946.3	37	c.210	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	T	32	5.132666	0.94517	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.24	0.161	0.14977	.	0.195459	0.35903	N	0.002905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3477	0.32284	0.0:0.3236:0.0:0.6764	.	.	.	.	X	70	.	ENSP00000218548:Y70X	Y	+	3	2	ATP12A	24157493	0.942000	0.31987	0.258000	0.24420	0.115000	0.19883	-0.032000	0.12266	-0.084000	0.12595	0.533000	0.62120	TAT	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC		0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	T	NM_001676	-		25259493	1	no_errors	ENST00000218548	ensembl	human	known	74_37	nonsense	SNP	0.426	A	A	25259493	T	A	25259493	4	1	236	1	0	0	0	0	0	1	0	0	1122	1471	51	5	220	5	ATP12A	13	25259493	Nonsense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09	4691832	25259493	89910385	66	19162											
TEP1	7011	genome.wustl.edu	37	chr14	20848393	20848393	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggggtcaaggtcttaCctttgctgatttttcatggt	12	7	4	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr14:20848393C>G	ENST00000262715.5	-	34	5044		c.e34+1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAAGGTCTTACCTTTGCTGAT	0.517																																																	0								ENSG00000129566						205	179	188					14																	20848393		2203	4300	6503	TEP1	SO:0001630	splice_region_variant	0			-	HGNC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5003+1G>C	14.37:g.20848393C>G		Somatic	0	129	0		0.635208746303704	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	23	60.34	A0AUV9	Splice_Site	SNP							-	e33+1	ENST00000262715.5	37	c.5003+1	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579998	0.65992	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6769	0.77336	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEP1	19918233	0.816000	0.29132	0.985000	0.45067	0.830000	0.47004	3.545000	0.53648	2.766000	0.95052	0.655000	0.94253	.	-	-		0.517	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	C	NM_007110	-	Intron	20848393	-1	no_errors	ENST00000262715	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	20848393	C	G	20848393	5	3	236	1	0	0	0	0	0	0	1	0	15766	521	18	4	2967	4	TEP1	14	20848393	Splice_Site	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		20848393	86501147	67	19163											
CTSG	1511	genome.wustl.edu	37	chr14	25043934	25043934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgattatattgagggtggcGgatggctctgcgcgcagtga	16	7	1	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr14:25043934G>A	ENST00000216336.2	-	3	322	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	96	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)			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)		TGAGGGTGGCGGATGGCTCTG	0.532																																																	0								ENSG00000100448						219	175	190					14																	25043934		2203	4300	6503	CTSG	SO:0001583	missense	0			-	HGNC	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.286C>T	14.37:g.25043934G>A	ENSP00000216336:p.Arg96Cys	Somatic	0	76	0		0.635208746303704	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	4	87.88	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R96C	ENST00000216336.2	37	c.286	CCDS9631.1	14	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315496	0.40996	.	.	ENSG00000100448	ENST00000216336	D	0.93133	-3.17	5.14	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.559992	0.13176	N	0.407885	D	0.88716	0.6512	L	0.31371	0.925	0.48571	D	0.999673	B	0.20261	0.043	B	0.19666	0.026	D	0.84148	0.0421	10	0.44086	T	0.13	.	11.4846	0.50346	0.0:0.0:0.8199:0.18	.	96	P08311	CATG_HUMAN	C	96	ENSP00000216336:R96C	ENSP00000216336:R96C	R	-	1	0	CTSG	24113774	0.996000	0.38824	0.896000	0.35187	0.017000	0.09413	3.373000	0.52394	1.437000	0.47472	0.655000	0.94253	CGC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	protein_coding	OTTHUMT00000276536.2	G	NM_001911	-		25043934	-1	no_errors	ENST00000216336	ensembl	human	known	74_37	missense	SNP	0.930	A	A	25043934	G	A	25043934	3	1	236	1	0	0	0	0	1	0	0	0	4037	1116	39	1	493	1	CTSG	14	25043934	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	4195541	25043934	82305606	68	19164											
AKAP5	9495	genome.wustl.edu	37	chr14	64935948	64935948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcaacaaattgtggaagAagccagtaacagtaccctag	9	8	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr14:64935948A>G	ENST00000394718.4	+	2	1214	c.836A>G	c.(835-837)gAa>gGa	p.E279G	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.E279G	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	279					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)		ATTGTGGAAGAAGCCAGTAAC	0.413																																																	0								ENSG00000179841						73	77	75					14																	64935948		2203	4300	6503	AKAP5	SO:0001583	missense	0			-	HGNC	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.836A>G	14.37:g.64935948A>G	ENSP00000378207:p.Glu279Gly	Somatic	0	81	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	4	89.47	A2RRB8	Missense_Mutation	SNP							pfam_Pkinase-A_anch_WSK-motif	p.E279G	ENST00000394718.4	37	c.836	CCDS9764.1	14	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351575	0.24512	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.34275	1.37;1.37	5.91	0.793	0.18632	.	0.426594	0.22125	N	0.064266	T	0.30198	0.0757	M	0.61703	1.905	0.25074	N	0.990978	B	0.12013	0.005	B	0.11329	0.006	T	0.27905	-1.0060	10	0.66056	D	0.02	-2.0645	4.7596	0.13100	0.4426:0.2914:0.2659:0.0	.	279	P24588	AKAP5_HUMAN	G	279	ENSP00000378207:E279G;ENSP00000315615:E279G	ENSP00000315615:E279G	E	+	2	0	AKAP5	64005701	0.101000	0.21875	0.714000	0.30535	0.179000	0.23085	0.348000	0.20031	-0.092000	0.12417	-0.313000	0.08912	GAA	-	NULL		0.413	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	protein_coding	OTTHUMT00000268070.3	A		-		64935948	1	no_errors	ENST00000320636	ensembl	human	known	74_37	missense	SNP	0.522	G	G	64935948	A	G	64935948	3	3	236	1	0	0	0	0	1	0	0	0	454	246	9	5	838	5	AKAP5	14	64935948	Missense_Mutation	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	39892014	64935948	42413592	69	19165											
EXD2	55218	genome.wustl.edu	37	chr14	69707775	69707775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacaaccatcagaagctGctccggaaattcggggaaga	11	11	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr14:69707775G>A	ENST00000409018.3	+	9	1952	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Silent_p.L483L|EXD2_ENST00000409675.1_Silent_p.L483L|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000312994.5_Silent_p.L608L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409014.1_Silent_p.L483L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	608							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567																																																	0								ENSG00000081177						52	47	49					14																	69707775		2203	4300	6503	EXD2	SO:0001819	synonymous_variant	0			-	HGNC	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1824G>A	14.37:g.69707775G>A		Somatic	0	57	0		0.635208746303704	7	12.5	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	25.58	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP							pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.L608	ENST00000409018.3	37	c.1824	CCDS53902.1	14																																																																																			-	NULL		0.567	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	protein_coding	OTTHUMT00000335504.1	G		-		69707775	1	no_errors	ENST00000312994	ensembl	human	known	74_37	silent	SNP	1.000	A	A	69707775	G	A	69707775	2	1	236	1	0	0	0	0	0	0	0	1	5300	1306	46	2		2	EXD2	14	69707775	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	4771827	69707775	37641765	70	19166											
GALC	2581	genome.wustl.edu	37	chr14	88454869	88454870	+	Splice_Site	INS	-	-	A													tagaagtcgggaggttgcctINSaaaaaaaaaagttttcaaaa					rs561184126	byFrequency	TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr14:88454869_88454870insA	ENST00000261304.2	-	2	302		c.e2-2		GALC_ENST00000544807.2_Splice_Site|GALC_ENST00000554916.1_Splice_Site|GALC_ENST00000393569.2_Splice_Site|GALC_ENST00000393568.4_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase						carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGGTTGCCTAAAAAAAAAAG	0.351																																																	0								ENSG00000054983																																			GALC	SO:0001630	splice_region_variant	0				HGNC	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.196-2->T	14.37:g.88454879_88454879dupA		Somatic	0	24	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Splice_Site	INS							-	e2-2	ENST00000261304.2	37	c.196-3_196-2	CCDS9878.2	14																																																																																			-	-		0.351	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	protein_coding	OTTHUMT00000071559.2	-			Intron	88454870	-1	no_errors	ENST00000261304	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.945	A	A	88454870	-	A	88454869	8	5	236	1	0	1	1	0	0	0	1	0	6203	1536	53	0	1990	0	GALC	14	88454869	Splice_Site	INS	-	TCGA-X6-A8C4-01A-11D-A36J-09	18747094	88454869	18894671	71	19167											
C15orf27	123591	genome.wustl.edu	37	chr15	76467986	76467986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccaagacgagcagctggagAggctgacgcagatctgtcag	14	10	2	4			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr15:76467986A>T	ENST00000388942.3	+	8	1015	c.739A>T	c.(739-741)Agg>Tgg	p.R247W	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	247					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GCAGCTGGAGAGGCTGACGCA	0.562																																																	0								ENSG00000169758						120	99	106					15																	76467986		2197	4294	6491	C15orf27	SO:0001583	missense	0			-	HGNC	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.739A>T	15.37:g.76467986A>T	ENSP00000373594:p.Arg247Trp	Somatic	0	88	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	121	15.38	Q8N993|Q96LL5	Missense_Mutation	SNP							NULL	p.R247W	ENST00000388942.3	37	c.739	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974887	0.74360	.	.	ENSG00000169758	ENST00000388942	T	0.36699	1.24	5.22	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.77103	2.36	0.50467	D	0.999873	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60875	-0.7176	10	0.87932	D	0	-16.8774	10.4777	0.44674	0.6862:0.3138:0.0:0.0	.	211;247	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	W	247	ENSP00000373594:R247W	ENSP00000373594:R247W	R	+	1	2	C15orf27	74255041	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	2.620000	0.46410	0.789000	0.33779	0.459000	0.35465	AGG	-	NULL		0.562	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	protein_coding	OTTHUMT00000286637.2	A	NM_152335	-		76467986	1	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	SNP	0.980	T	T	76467986	A	T	76467986	3	4	236	1	0	0	0	0	1	0	0	0	1790	295	11	5	765	5	C15orf27	15	76467986	Missense_Mutation	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09		76467986	26063406	72	19168											
AP3S2	10239	genome.wustl.edu	37	chr15	90378806	90378806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgccaatgttgatgttccGaggaatctctggcaggttga	12	8	1	2	rs139910320		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr15:90378806G>A	ENST00000336418.4	-	6	915	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000558011.1_Missense_Mutation_p.R187W|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.R376W	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	175					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)			TTGATGTTCCGAGGAATCTCT	0.488													G|||	1	0.000199681	0	0	5008	,	,		17947	0.001		0	False		,,,				2504	0																0								ENSG00000250021	G	TRP/ARG,TRP/ARG	0,4400		0,0,2200	210	186	195		1126,523	2.5	0.5	15	dbSNP_134	195	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	AP3S2,C15orf38-AP3S2	NM_001199058.1,NM_005829.4	101,101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	376/395,175/194	90378806	1,12997	2200	4299	6499	C15orf38-AP3S2	SO:0001583	missense	0			GMAF=0.0005	HGNC	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.523C>T	15.37:g.90378806G>A	ENSP00000338777:p.Arg175Trp	Somatic	0	88	0		0.635208746303704	182	20.87	48	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	81	11.96	B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP							pfam_UPF0552,pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	p.R376W	ENST00000336418.4	37	c.1126	CCDS10357.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.086444	0.76642	0.0	1.16E-4	ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000398333	T;T	0.48836	0.81;0.8	5.53	2.54	0.30619	.	0.075543	0.53938	N	0.000051	T	0.52597	0.1744	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68765	0.96;0.834	T	0.50717	-0.8795	10	0.87932	D	0	-15.4349	7.9248	0.29867	0.0771:0.0:0.6294:0.2935	.	376;175	E2QRD5;P59780	.;AP3S2_HUMAN	W	175;376	ENSP00000338777:R175W;ENSP00000381377:R376W	ENSP00000338777:R175W	R	-	1	2	C15orf38-AP3S2;AP3S2	88179810	1.000000	0.71417	0.532000	0.27989	0.988000	0.76386	3.781000	0.55394	0.346000	0.23899	-0.140000	0.14226	CGG	-	NULL		0.488	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf38-AP3S2	protein_coding	OTTHUMT00000313422.1	G		rs139910320		90378806	-1	no_errors	ENST00000398333	ensembl	human	known	74_37	missense	SNP	0.961	A	A	90378806	G	A	90378806	3	1	236	1	0	0	0	0	1	0	0	0	750	1057	37	1	62	1	AP3S2	15	90378806	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	13910820	90378806	12152586	73	19169											
TARSL2	123283	genome.wustl.edu	37	chr15	102226182	102226182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctcgctgtaatgctgCcagtggcctgaggcttccca	11	12	1	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr15:102226182C>A	ENST00000335968.3	-	11	1620	c.1404G>T	c.(1402-1404)tgG>tgT	p.W468C	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	468					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.W468*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTAATGCTGCCAGTGGCCTG	0.458																																																	1	Substitution - Nonsense(1)	central_nervous_system(1)						ENSG00000185418						154	143	147					15																	102226182		2203	4300	6503	TARSL2	SO:0001583	missense	0			-	HGNC	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1404G>T	15.37:g.102226182C>A	ENSP00000338093:p.Trp468Cys	Somatic	0	55	0		0.635208746303704	22	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.W468C	ENST00000335968.3	37	c.1404	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507525	0.85282	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.69435	-0.4;-0.4	5.93	5.93	0.95920	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94034	0.7303	10	0.87932	D	0	-8.1057	17.8477	0.88736	0.0:1.0:0.0:0.0	.	468;373	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	C	468;373;468	ENSP00000338093:W468C;ENSP00000439899:W468C	ENSP00000329291:W373C	W	-	3	0	TARSL2	100043705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.826000	0.97356	0.655000	0.94253	TGG	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa		0.458	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	protein_coding	OTTHUMT00000313619.3	C	NM_152334	-		102226182	-1	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	SNP	1.000	A	A	102226182	C	A	102226182	3	1	236	1	0	0	0	0	1	0	0	0	15568	740	26	3	1040	3	TARSL2	15	102226182	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	11847376	102226182	305210	74	19170											
RGS11	8786	genome.wustl.edu	37	chr16	320782	320782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggacctgggcctgcGctccatatcgaagctcctca	14	13	1	0	rs370263768		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr16:320782G>T	ENST00000397770.3	-	14	1045	c.1028C>A	c.(1027-1029)gCg>gAg	p.A343E	RGS11_ENST00000359740.5_Missense_Mutation_p.A332E|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.A322E			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	343	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGGGCCTGCGCTCCATATCG	0.652																																																	0								ENSG00000076344						28	24	25					16																	320782		2202	4298	6500	RGS11	SO:0001583	missense	0			-	HGNC	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1028C>A	16.37:g.320782G>T	ENSP00000380876:p.Ala343Glu	Somatic	0	26	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP							pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A343E	ENST00000397770.3	37	c.1028	CCDS42088.1	16	.	.	.	.	.	.	.	.	.	.	G	0.657	-0.807179	0.02819	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.27256	1.68;1.68;1.68	5.0	-0.0363	0.13888	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.438821	0.25109	N	0.033071	T	0.05410	0.0143	N	0.00788	-1.185	0.38546	D	0.949345	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.10450	0.004;0.005;0.005	T	0.26677	-1.0096	10	0.10111	T	0.7	-9.2558	4.0161	0.09644	0.0:0.2344:0.4167:0.3489	.	332;343;343	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	E	343;322;332	ENSP00000380876:A343E;ENSP00000319069:A322E;ENSP00000352778:A332E	ENSP00000319069:A322E	A	-	2	0	RGS11	260783	0.386000	0.25180	0.008000	0.14137	0.051000	0.14879	1.081000	0.30791	0.127000	0.18452	-0.502000	0.04539	GCG	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam		0.652	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS11	protein_coding	OTTHUMT00000139325.2	G		-		320782	-1	no_errors	ENST00000397770	ensembl	human	known	74_37	missense	SNP	0.415	T	T	320782	G	T	320782	3	4	236	1	0	0	0	0	1	0	0	0	13302	1087	38	3	391	3	RGS11	16	320782	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09		320782	90033971	75	19171											
TMEM204	79652	genome.wustl.edu	37	chr16	1604942	1604942	+	Frame_Shift_Del	DEL	C	C	-													caagagggaggactgcatggCcccccgggtgattgtcatca							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr16:1604942delC	ENST00000566264.1	+	3	1299	c.596delC	c.(595-597)gccfs	p.A199fs	IFT140_ENST00000426508.2_Intron|IFT140_ENST00000439987.2_Intron|TMEM204_ENST00000253934.5_Frame_Shift_Del_p.A199fs	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	199					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GACTGCATGGCCCCCCGGGTG	0.617																																																	0								ENSG00000131634						48	53	51					16																	1604942		2049	4170	6219	TMEM204	SO:0001589	frameshift_variant	0				HGNC		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.596delC	16.37:g.1604942delC	ENSP00000454945:p.Ala199fs	Somatic	0	48	0		0.635208746303704	16	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	D3DU76|Q3KRC1|Q9H7G5	Frame_Shift_Del	DEL							NULL	p.R201fs	ENST00000566264.1	37	c.596	CCDS42098.1	16																																																																																			-	NULL		0.617	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM204	protein_coding	OTTHUMT00000432610.1	C	NM_024600			1604942	1	no_errors	ENST00000253934	ensembl	human	known	74_37	frame_shift_del	DEL	0.995	-	-	1604942	C	-	1604942	7	5	236	1	0	1	0	1	0	0	0	0	16136	739	26	0	606	0	TMEM204	16	1604942	Frame_Shift_Del	DEL	C	TCGA-X6-A8C4-01A-11D-A36J-09	1284160	1604942	88749811	76	19172											
ZNF768	79724	genome.wustl.edu	37	chr16	30537359	30537359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaatttcctcttcctcattCtcactcatgttgcctgcagg	6	13	4	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr16:30537359C>G	ENST00000380412.5	-	2	277	c.102G>C	c.(100-102)gaG>gaC	p.E34D	ZNF768_ENST00000562803.1_Missense_Mutation_p.E3D|ZNF747_ENST00000569360.1_3'UTR|ZNF747_ENST00000535210.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	34	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ctTCCTCATTCTCACTCATGT	0.512																																																	0								ENSG00000169957						108	107	107					16																	30537359		2197	4300	6497	ZNF768	SO:0001583	missense	0			-	HGNC	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.102G>C	16.37:g.30537359C>G	ENSP00000369777:p.Glu34Asp	Somatic	0	71	0		0.635208746303704	70	35.45	39	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	Q569L7|Q96CX4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E34D	ENST00000380412.5	37	c.102	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865952	0.32977	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06768	3.26	4.91	1.66	0.24008	.	0.145053	0.32002	N	0.006730	T	0.04497	0.0123	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40175	-0.9577	10	0.35671	T	0.21	-9.5956	4.0888	0.09960	0.2392:0.5269:0.1508:0.0831	.	34	Q9H5H4	ZN768_HUMAN	D	34;3	ENSP00000369777:E34D	ENSP00000369777:E34D	E	-	3	2	ZNF768	30444860	0.080000	0.21391	0.998000	0.56505	0.978000	0.69477	-0.075000	0.11431	0.633000	0.30452	0.561000	0.74099	GAG	-	NULL		0.512	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	protein_coding	OTTHUMT00000255522.2	C	NM_024671	-		30537359	-1	no_errors	ENST00000380412	ensembl	human	known	74_37	missense	SNP	0.929	G	G	30537359	C	G	30537359	3	3	236	1	0	0	0	0	1	0	0	0	18148	912	32	4	1524	4	ZNF768	16	30537359	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	28932417	30537359	59817394	77	19173											
IRX6	79190	genome.wustl.edu	37	chr16	55362613	55362613	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcttgatttcctgcagaAgttactgctagccaggaggc	11	11	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr16:55362613A>C	ENST00000290552.7	+	5	2055	c.723A>C	c.(721-723)gaA>gaC	p.E241D	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	241					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCCTGCAGAAGTTACTGCTA	0.587																																																	0								ENSG00000159387						43	52	49					16																	55362613		2169	4228	6397	IRX6	SO:0001630	splice_region_variant	0			-	HGNC	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.722-1A>C	16.37:g.55362613A>C		Somatic	0	95	0		0.635208746303704	9	35.71	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	10	56.52	B2RN06|Q7Z2K0	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E241D	ENST00000290552.7	37	c.723	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	A	3.178	-0.168582	0.06461	.	.	ENSG00000159387	ENST00000290552	D	0.89810	-2.57	5.27	-10.5	0.00291	.	0.531595	0.18158	N	0.149867	T	0.58133	0.2101	N	0.03608	-0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.65928	-0.6049	10	0.02654	T	1	.	3.563	0.07889	0.2725:0.104:0.0886:0.5348	.	241	P78412	IRX6_HUMAN	D	241	ENSP00000290552:E241D	ENSP00000290552:E241D	E	+	3	2	IRX6	53920114	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	-3.534000	0.00439	-1.910000	0.01083	-0.656000	0.03901	GAA	-	NULL		0.587	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	protein_coding	OTTHUMT00000417445.4	A	NM_024335	-	Missense_Mutation	55362613	1	no_errors	ENST00000290552	ensembl	human	known	74_37	missense	SNP	0.000	C	C	55362613	A	C	55362613	5	2	236	1	0	0	0	0	0	0	1	0	7850	86	3	5	741	5	IRX6	16	55362613	Splice_Site	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	24825254	55362613	34992140	78	19174											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77398240	77398240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctcccatattcatcaaAccttagataggtgtcctctg	7	11	3	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr16:77398240A>G	ENST00000282849.5	-	5	1235	c.817T>C	c.(817-819)Ttt>Ctt	p.F273L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	273					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TATTCATCAAACCTTAGATAG	0.468																																																	0								ENSG00000140873						68	65	66					16																	77398240		2198	4300	6498	ADAMTS18	SO:0001583	missense	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.817T>C	16.37:g.77398240A>G	ENSP00000282849:p.Phe273Leu	Somatic	0	46	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F273L	ENST00000282849.5	37	c.817	CCDS10926.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.08|10.08	1.252381|1.252381	0.22880|0.22880	.|.	.|.	ENSG00000140873|ENSG00000140873	ENST00000282849|ENST00000449265	T|T	0.58797|0.11821	0.31|2.74	5.17|5.17	1.62|1.62	0.23740|0.23740	.|.	0.382521|.	0.27981|.	N|.	0.017064|.	T|T	0.15869|0.15869	0.0382|0.0382	L|L	0.47716|0.47716	1.5|1.5	0.23751|0.23751	N|N	0.996948|0.996948	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.20107|0.20107	-1.0285|-1.0285	10|7	0.25751|0.87932	T|D	0.34|0	.|.	6.0724|6.0724	0.19897|0.19897	0.6235:0.2139:0.1625:0.0|0.6235:0.2139:0.1625:0.0	.|.	273|.	Q8TE60|.	ATS18_HUMAN|.	L|A	273|274	ENSP00000282849:F273L|ENSP00000392540:V274A	ENSP00000282849:F273L|ENSP00000392540:V274A	F|V	-|-	1|2	0|0	ADAMTS18|ADAMTS18	75955741|75955741	0.889000|0.889000	0.30405|0.30405	0.871000|0.871000	0.34182|0.34182	0.995000|0.995000	0.86356|0.86356	1.998000|1.998000	0.40796|0.40796	0.450000|0.450000	0.26774|0.26774	0.482000|0.482000	0.46254|0.46254	TTT|GTT	-	NULL		0.468	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	A		-		77398240	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	SNP	0.523	G	G	77398240	A	G	77398240	3	3	236	1	0	0	0	0	1	0	0	0	263	43	2	5	2924	5	ADAMTS18	16	77398240	Missense_Mutation	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	22035627	77398240	12956513	79	19175											
OR1A2	26189	genome.wustl.edu	37	chr17	3101480	3101480	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctatgttcaggtcttttccaCagtcttccaagttccatcta	5	12	4	0	rs184251188	byFrequency	TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr17:3101480C>G	ENST00000381951.1	+	1	668	c.668C>G	c.(667-669)aCa>aGa	p.T223R		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	223					positive regulation of cytokinesis (GO:0032467)	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(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GTCTTTTCCACAGTCTTCCAA	0.438																																																	0								ENSG00000172150						202	180	188					17																	3101480		2203	4300	6503	OR1A2	SO:0001583	missense	0			-	HGNC	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.668C>G	17.37:g.3101480C>G	ENSP00000371377:p.Thr223Arg	Somatic	0	53	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T223R	ENST00000381951.1	37	c.668	CCDS11021.1	17	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822816	0.16678	.	.	ENSG00000172150	ENST00000381951	T	0.00193	8.58	4.0	0.467	0.16721	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000097	T	0.00356	0.0011	M	0.90705	3.14	0.09310	N	1	P	0.48294	0.908	P	0.49387	0.609	T	0.37244	-0.9714	10	0.87932	D	0	.	7.3047	0.26440	0.2897:0.6218:0.0:0.0885	.	223	Q9Y585	OR1A2_HUMAN	R	223	ENSP00000371377:T223R	ENSP00000371377:T223R	T	+	2	0	OR1A2	3048230	0.000000	0.05858	0.016000	0.15963	0.093000	0.18481	0.838000	0.27572	0.433000	0.26313	-0.399000	0.06403	ACA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	protein_coding	OTTHUMT00000207293.1	C	NM_012352	-		3101480	1	no_errors	ENST00000381951	ensembl	human	known	74_37	missense	SNP	0.000	G	G	3101480	C	G	3101480	3	3	236	1	0	0	0	0	1	0	0	0	10952	478	17	4	670	4	OR1A2	17	3101480	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09		3101480	78093730	80	19176											
USP6	9098	genome.wustl.edu	37	chr17	5071226	5071226	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttccctctacctacaGgttgtagataagcatgagag	9	10	1	2			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr17:5071226G>A	ENST00000574788.1	+	34	5266		c.e34-1		USP6_ENST00000332776.4_Splice_Site|USP6_ENST00000304328.5_Splice_Site|USP6_ENST00000250066.6_Splice_Site			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6						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						TCTACCTACAGGTTGTAGATA	0.527			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0								ENSG00000129204						54	52	52					17																	5071226		2203	4300	6503	USP6	SO:0001630	splice_region_variant	0			-	HGNC	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.3037-1G>A	17.37:g.5071226G>A		Somatic	0	151	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	82	46.75	Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP							-	e25-1	ENST00000574788.1	37	c.3037-1	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	8.437	0.849981	0.17034	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.35	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP6	5011950	1.000000	0.71417	0.894000	0.35097	0.089000	0.18198	9.035000	0.93752	1.313000	0.45069	0.184000	0.17185	.	-	-		0.527	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	protein_coding	OTTHUMT00000438990.1	G	NM_004505	-	Intron	5071226	1	no_errors	ENST00000250066	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	5071226	G	A	5071226	5	1	236	1	0	0	0	0	0	0	1	0	17093	1014	35	2	3134	2	USP6	17	5071226	Splice_Site	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	1969746	5071226	76123984	81	19177											
POLR2A	5430	genome.wustl.edu	37	chr17	7414575	7414575	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggatgatgatgtcttcctGcgctgcatcgagtccaacat	10	10	1	2	rs202160361		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr17:7414575G>T	ENST00000322644.6	+	23	4254	c.3855G>T	c.(3853-3855)ctG>ctT	p.L1285L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1285					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGTCTTCCTGCGCTGCATCG	0.577																																																	0								ENSG00000181222						186	138	154					17																	7414575		2203	4300	6503	POLR2A	SO:0001819	synonymous_variant	0			-	HGNC			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3855G>T	17.37:g.7414575G>T		Somatic	0	48	0		0.635208746303704	355	0.28	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NN93|B9EH88|Q6NX41	Silent	SNP							pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.L1285	ENST00000322644.6	37	c.3855	CCDS32548.1	17																																																																																			-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_7		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	protein_coding	OTTHUMT00000437967.1	G	NM_000937	-		7414575	1	no_errors	ENST00000322644	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7414575	G	T	7414575	2	4	236	1	0	0	0	0	0	0	0	1	12216	1306	46	3		3	POLR2A	17	7414575	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	2343349	7414575	73780635	82	19178											
MPP2	4355	genome.wustl.edu	37	chr17	41957293	41957293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcctccatctccccacGggacacaaagctgtaaccct	7	17	2	0	rs374234227		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr17:41957293G>A	ENST00000461854.1	-	12	1367	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	MPP2_ENST00000520305.1_Missense_Mutation_p.R265C|MPP2_ENST00000377184.3_Missense_Mutation_p.R421C|MPP2_ENST00000536246.1_Missense_Mutation_p.R393C|MPP2_ENST00000523501.1_Missense_Mutation_p.R393C|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.R449C|MPP2_ENST00000269095.4_Missense_Mutation_p.R404C			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	428	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R404C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ATCTCCCCACGGGACACAAAG	0.622											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)						ENSG00000108852	G	CYS/ARG	0,4406		0,0,2203	174	117	136		1210	4.8	1	17		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP2	NM_005374.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	404/553	41957293	1,13005	2203	4300	6503	MPP2	SO:0001583	missense	0			-	HGNC		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1282C>T	17.37:g.41957293G>A	ENSP00000428286:p.Arg428Cys	Somatic	0	53	0	905	0.635208746303704	3	50	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP							pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R428C	ENST00000461854.1	37	c.1282		17	.	.	.	.	.	.	.	.	.	.	g	14.95	2.688402	0.48097	0.0	1.16E-4	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.83	4.83	0.62350	.	.	.	.	.	T	0.57946	0.2088	H	0.95780	3.72	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.916	T	0.72590	-0.4247	9	0.87932	D	0	.	15.844	0.78874	0.0:0.0:1.0:0.0	.	449;421	E7EV80;Q14168-3	.;.	C	421;404;428;265;393;393;449	ENSP00000366389:R421C;ENSP00000269095:R404C;ENSP00000428286:R428C;ENSP00000428136:R265C;ENSP00000430540:R393C;ENSP00000438012:R393C;ENSP00000428182:R449C	ENSP00000269095:R404C	R	-	1	0	MPP2	39312819	1.000000	0.71417	0.960000	0.40013	0.042000	0.13812	3.155000	0.50700	2.390000	0.81377	0.579000	0.79373	CGT	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like		0.622	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	protein_coding	OTTHUMT00000258388.2	G	NM_005374	-		41957293	-1	no_errors	ENST00000461854	ensembl	human	known	74_37	missense	SNP	0.996	A	A	41957293	G	A	41957293	3	1	236	1	0	0	0	0	1	0	0	0	9736	1116	39	1	460	1	MPP2	17	41957293	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	34542718	41957293	39237917	83	19179											
DLX3	1747	genome.wustl.edu	37	chr17	48070845	48070845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccttctggaagcggcgCtgcagggcggccagctggta	18	11	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr17:48070845C>T	ENST00000434704.2	-	2	660	c.435G>A	c.(433-435)caG>caA	p.Q145Q	DLX3_ENST00000512495.2_Silent_p.Q25Q	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	145					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGAAGCGGCGCTGCAGGGCGG	0.662																																																	0								ENSG00000064195						47	43	44					17																	48070845		2203	4300	6503	DLX3	SO:0001819	synonymous_variant	0			-	HGNC		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.435G>A	17.37:g.48070845C>T		Somatic	0	72	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	B3KQL6	Silent	SNP							pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q145	ENST00000434704.2	37	c.435	CCDS11556.1	17																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.662	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	protein_coding	OTTHUMT00000366307.1	C		-		48070845	-1	no_errors	ENST00000434704	ensembl	human	known	74_37	silent	SNP	1.000	T	T	48070845	C	T	48070845	2	4	236	1	0	0	0	0	0	0	0	1	4574	796	28	2		2	DLX3	17	48070845	Silent	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	6113552	48070845	33124365	84	19180											
LPO	4025	genome.wustl.edu	37	chr17	56343551	56343551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcggggcctgctggccaaGaaatccaagctgatgaaaca	13	10	0	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr17:56343551G>A	ENST00000262290.4	+	11	1873	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	LPO_ENST00000582328.1_Silent_p.K436K|LPO_ENST00000421678.2_Silent_p.K436K|LPO_ENST00000543544.1_Silent_p.K460K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	519					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCTGGCCAAGAAATCCAAGC	0.527																																																	0								ENSG00000167419						60	54	56					17																	56343551		2203	4300	6503	LPO	SO:0001819	synonymous_variant	0			-	HGNC	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1557G>A	17.37:g.56343551G>A		Somatic	0	77	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP							pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.K519	ENST00000262290.4	37	c.1557	CCDS32689.1	17																																																																																			-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	protein_coding	OTTHUMT00000443961.1	G		-		56343551	1	no_errors	ENST00000262290	ensembl	human	known	74_37	silent	SNP	0.882	A	A	56343551	G	A	56343551	2	1	236	1	0	0	0	0	0	0	0	1	8924	933	33	2		2	LPO	17	56343551	Silent	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	8272706	56343551	24851659	85	19181											
MUC16	94025	genome.wustl.edu	37	chr19	9024855	9024855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactgttcctgtccaggGtgtaggggcccagctcttca	13	11	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:9024855G>A	ENST00000397910.4	-	16	37210	c.37007C>T	c.(37006-37008)aCc>aTc	p.T12336I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12338	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CCTGTCCAGGGTGTAGGGGCC	0.527																																																	0								ENSG00000181143						166	153	157					19																	9024855		1974	4164	6138	MUC16	SO:0001583	missense	0			-	HGNC	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.37007C>T	19.37:g.9024855G>A	ENSP00000381008:p.Thr12336Ile	Somatic	0	134	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	Q6ZQW5|Q96RK2	Missense_Mutation	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T12336I	ENST00000397910.4	37	c.37007	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	9.610	1.131096	0.21041	.	.	ENSG00000181143	ENST00000397910	T	0.18502	2.21	2.73	0.525	0.17072	.	.	.	.	.	T	0.31606	0.0802	M	0.79693	2.465	.	.	.	P	0.48694	0.914	P	0.56127	0.792	T	0.38542	-0.9656	8	0.87932	D	0	.	4.8245	0.13408	0.3116:0.0:0.6884:0.0	.	12336	B5ME49	.	I	12336	ENSP00000381008:T12336I	ENSP00000381008:T12336I	T	-	2	0	MUC16	8885855	0.026000	0.19158	0.204000	0.23530	0.020000	0.10135	-0.374000	0.07484	0.213000	0.20722	-0.450000	0.05554	ACC	-	smart_SEA_dom		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9024855	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.246	A	A	9024855	G	A	9024855	3	1	236	1	0	0	0	0	1	0	0	0	9975	1261	44	2	6792	2	MUC16	19	9024855	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09		9024855	50104128	86	19182											
PGLYRP2	114770	genome.wustl.edu	37	chr19	15579541	15579541	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatctcttagagacactcCtggcaggtcttggcttaaca	10	10	2	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:15579541C>G	ENST00000340880.4	-	5	2144	c.1664G>C	c.(1663-1665)aGg>aCg	p.R555T	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	555					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGAGACACTCCTGGCAGGTCT	0.552																																																	0								ENSG00000161031						99	105	103					19																	15579541		1959	4147	6106	PGLYRP2	SO:0001583	missense	0			-	HGNC	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1664G>C	19.37:g.15579541C>G	ENSP00000345968:p.Arg555Thr	Somatic	0	58	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP							pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.R555T	ENST00000340880.4	37	c.1664	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047725	0.36085	.	.	ENSG00000161031	ENST00000340880	T	0.04502	3.61	3.26	1.04	0.20106	.	.	.	.	.	T	0.03608	0.0103	L	0.47716	1.5	0.09310	N	1	P	0.41673	0.759	B	0.34824	0.19	T	0.40040	-0.9584	9	0.18710	T	0.47	.	3.7209	0.08456	0.2536:0.6131:0.0:0.1333	.	555	Q96PD5	PGRP2_HUMAN	T	555	ENSP00000345968:R555T	ENSP00000345968:R555T	R	-	2	0	PGLYRP2	15440541	0.018000	0.18449	0.010000	0.14722	0.060000	0.15804	-0.061000	0.11693	0.353000	0.24079	0.650000	0.86243	AGG	-	NULL		0.552	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	protein_coding	OTTHUMT00000319626.1	C	NM_052890	-		15579541	-1	no_errors	ENST00000340880	ensembl	human	known	74_37	missense	SNP	0.014	G	G	15579541	C	G	15579541	3	3	236	1	0	0	0	0	1	0	0	0	11796	681	24	4	70	4	PGLYRP2	19	15579541	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	6554686	15579541	43549442	87	19183											
LPAR2	9170	genome.wustl.edu	37	chr19	19735363	19735363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctggcctggtgtccagCagaccacgaacgcccctgtg	11	17	0	1			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:19735363C>T	ENST00000542587.1	-	6	1660	c.758G>A	c.(757-759)tGc>tAc	p.C253Y	LPAR2_ENST00000586703.1_Missense_Mutation_p.C253Y|LPAR2_ENST00000407877.3_Missense_Mutation_p.C253Y			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	253					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGGTGTCCAGCAGACCACGAA	0.597																																																	0								ENSG00000064547						53	51	52					19																	19735363		2203	4300	6503	LPAR2	SO:0001583	missense	0			-	HGNC	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.758G>A	19.37:g.19735363C>T	ENSP00000443256:p.Cys253Tyr	Somatic	0	32	0		0.635208746303704	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	O00543|O43431	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.C253Y	ENST00000542587.1	37	c.758	CCDS12407.1	19	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186760	0.78789	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.54279	0.58;0.58	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.050757	0.85682	D	0.000000	T	0.78349	0.4269	H	0.94620	3.56	0.80722	D	1	D	0.56746	0.977	D	0.65323	0.934	D	0.84984	0.0890	10	0.87932	D	0	.	14.8828	0.70545	0.0:1.0:0.0:0.0	.	253	Q9HBW0	LPAR2_HUMAN	Y	253	ENSP00000384665:C253Y;ENSP00000443256:C253Y	ENSP00000384665:C253Y	C	-	2	0	LPAR2	19596363	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.454000	0.80714	2.370000	0.80446	0.561000	0.74099	TGC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.597	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	protein_coding	OTTHUMT00000460544.1	C	NM_004720	-		19735363	-1	no_errors	ENST00000407877	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19735363	C	T	19735363	3	4	236	1	0	0	0	0	1	0	0	0	8907	710	25	2	301	2	LPAR2	19	19735363	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	4155822	19735363	39393620	88	19184											
PAPL	390928	genome.wustl.edu	37	chr19	39589686	39589686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactggagtccccgtctgGctgtgtttggagacctgggg	15	12	1	1	rs567807660		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:39589686G>A	ENST00000331256.5	+	4	683	c.409G>A	c.(409-411)Gct>Act	p.A137T	PAPL_ENST00000594229.1_Missense_Mutation_p.A137T	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		137						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TCCCCGTCTGGCTGTGTTTGG	0.647													g|||	1	0.000199681	0	0.0014	5008	,	,		12040	0		0	False		,,,				2504	0																0								ENSG00000183760						46	51	49					19																	39589686		2203	4300	6503	PAPL	SO:0001583	missense	0			-	Uniprot_gn																												ENST00000331256.5:c.409G>A	19.37:g.39589686G>A	ENSP00000327557:p.Ala137Thr	Somatic	0	100	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2RN68	Missense_Mutation	SNP							pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.A137T	ENST00000331256.5	37	c.409	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.866363	0.97043	.	.	ENSG00000183760	ENST00000331256	D	0.85258	-1.96	5.13	5.13	0.70059	Metallophosphoesterase domain (1);	0.063407	0.64402	D	0.000008	D	0.92599	0.7649	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	P	0.61275	0.886	D	0.93915	0.7200	10	0.72032	D	0.01	-7.6482	16.0462	0.80722	0.0:0.0:1.0:0.0	.	137	Q6ZNF0	PAPL_HUMAN	T	137	ENSP00000327557:A137T	ENSP00000327557:A137T	A	+	1	0	AC011443.1	44281526	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.980000	0.93460	2.367000	0.80283	0.650000	0.86243	GCT	-	pfam_PEstase_dom		0.647	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	protein_coding	OTTHUMT00000463810.1	G		-		39589686	1	no_errors	ENST00000331256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39589686	G	A	39589686	3	1	236	1	0	0	0	0	1	0	0	0	11429	1203	42	2	419	2	PAPL	19	39589686	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	19854323	39589686	19539297	89	19185											
IZUMO1	284359	genome.wustl.edu	37	chr19	49245484	49245484	+	Silent	SNP	A	A	C													accctgtaaaagctgtaatcAgtgaggccttccgaagcctg							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:49245484A>C	ENST00000332955.2	-	7	1129	c.582T>G	c.(580-582)acT>acG	p.T194T	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	194	Ig-like C2-type.				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)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AGCTGTAATCAGTGAGGCCTT	0.507																																																	0								ENSG00000182264						167	151	157					19																	49245484		2203	4300	6503	IZUMO1	SO:0001819	synonymous_variant	0			-	HGNC	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.582T>G	19.37:g.49245484A>C		Somatic	0	134	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	65	10.96	Q6Q8P6|Q6Q8P7	Silent	SNP							NULL	p.T194	ENST00000332955.2	37	c.582	CCDS12732.1	19																																																																																			-	NULL		0.507	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	protein_coding	OTTHUMT00000466189.1	A	NM_182575	-		49245484	-1	no_errors	ENST00000332955	ensembl	human	known	74_37	silent	SNP	0.003	C	C	49245484	A	C	49245484	2	2	236	1	0	0	0	0	0	0	0	1	7935	175	7	5		5	IZUMO1	19	49245484	Silent	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09	9655798	49245484	9883499	90	19186	499	2									
IZUMO1	284359	genome.wustl.edu	37	chr19	49245485	49245485	+	Missense_Mutation	SNP	G	G	C													ccctgtaaaagctgtaatcaGtgaggccttccgaagcctga							TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:49245485G>C	ENST00000332955.2	-	7	1128	c.581C>G	c.(580-582)aCt>aGt	p.T194S	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	194	Ig-like C2-type.				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)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GCTGTAATCAGTGAGGCCTTC	0.512																																																	0								ENSG00000182264						168	152	157					19																	49245485		2203	4300	6503	IZUMO1	SO:0001583	missense	0			-	HGNC	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.581C>G	19.37:g.49245485G>C	ENSP00000327786:p.Thr194Ser	Somatic	0	133	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	65	10.96	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP							NULL	p.T194S	ENST00000332955.2	37	c.581	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	G	9.860	1.196018	0.22037	.	.	ENSG00000182264	ENST00000332955	D	0.83506	-1.73	4.57	3.52	0.40303	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.332615	0.25887	N	0.027649	T	0.78735	0.4330	L	0.29908	0.895	0.27287	N	0.957943	D	0.54207	0.965	P	0.50659	0.647	T	0.71381	-0.4610	10	0.49607	T	0.09	-17.2747	10.1603	0.42847	0.0:0.0:0.801:0.199	.	194	Q8IYV9	IZUM1_HUMAN	S	194	ENSP00000327786:T194S	ENSP00000327786:T194S	T	-	2	0	IZUMO1	53937297	0.976000	0.34144	0.687000	0.30102	0.022000	0.10575	1.919000	0.40015	1.274000	0.44362	0.561000	0.74099	ACT	-	NULL		0.512	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	protein_coding	OTTHUMT00000466189.1	G	NM_182575	-		49245485	-1	no_errors	ENST00000332955	ensembl	human	known	74_37	missense	SNP	0.807	C	C	49245485	G	C	49245485	3	2	236	1	0	0	0	0	1	0	0	0	7935	1029	36	4	487	4	IZUMO1	19	49245485	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	1	49245485	9883498	91	19187	499	2									
NLRP12	91662	genome.wustl.edu	37	chr19	54299150	54299150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccaggatggctcagccGcttgcaaagcagtcggacac	13	13	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr19:54299150G>A	ENST00000324134.6	-	9	3229	c.3061C>T	c.(3061-3063)Cgg>Tgg	p.R1021W	NLRP12_ENST00000351894.4_Missense_Mutation_p.R909W|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.R1022W|NLRP12_ENST00000391775.3_Missense_Mutation_p.R964W|NLRP12_ENST00000345770.5_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1021					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGCTCAGCCGCTTGCAAAGC	0.557																																																	0								ENSG00000142405						92	71	78					19																	54299150		2203	4300	6503	NLRP12	SO:0001583	missense	0			-	HGNC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3061C>T	19.37:g.54299150G>A	ENSP00000319377:p.Arg1021Trp	Somatic	0	98	0		0.635208746303704	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	34	46.03	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP							pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R1021W	ENST00000324134.6	37	c.3061	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	8.901	0.956243	0.18507	.	.	ENSG00000142405	ENST00000324134;ENST00000351894;ENST00000358661;ENST00000391775;ENST00000391773	T;T;T;T	0.52983	0.65;0.64;0.64;0.65	4.15	-8.07	0.01098	.	0.862246	0.09479	U	0.796587	T	0.49270	0.1547	L	0.36672	1.1	0.09310	N	1	D;D;D;D	0.89917	0.989;0.999;1.0;0.994	P;P;D;P	0.79108	0.844;0.841;0.992;0.591	T	0.57476	-0.7805	10	0.72032	D	0.01	.	8.1131	0.30926	0.0:0.3664:0.4412:0.1924	.	247;1021;964;1021	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	W	1021;909;247;964;1022	ENSP00000319377:R1021W;ENSP00000340473:R909W;ENSP00000375655:R964W;ENSP00000375653:R1022W	ENSP00000319377:R1021W	R	-	1	2	NLRP12	58990962	0.004000	0.15560	0.000000	0.03702	0.099000	0.18886	0.137000	0.15995	-1.833000	0.01195	0.442000	0.29010	CGG	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	G	NM_144687	-		54299150	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	SNP	0.019	A	A	54299150	G	A	54299150	3	1	236	1	0	0	0	0	1	0	0	0	10476	1086	38	1	132	1	NLRP12	19	54299150	Missense_Mutation	SNP	G	TCGA-X6-A8C4-01A-11D-A36J-09	5053665	54299150	4829833	92	19188											
GAB4	128954	genome.wustl.edu	37	chr22	17443672	17443672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggactgccgcaggcacatcTgttcatgcatggtcttctgc	11	12	4	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr22:17443672T>C	ENST00000400588.1	-	10	1783	c.1676A>G	c.(1675-1677)cAg>cGg	p.Q559R		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	559										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGGCACATCTGTTCATGCAT	0.612																																																	0								ENSG00000215568						58	61	60					22																	17443672		2198	4300	6498	GAB4	SO:0001583	missense	0			-	HGNC	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1676A>G	22.37:g.17443672T>C	ENSP00000383431:p.Gln559Arg	Somatic	0	51	0		0.635208746303704	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	12	80.33		Missense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q559R	ENST00000400588.1	37	c.1676	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	T	8.171	0.791632	0.16258	.	.	ENSG00000215568	ENST00000400588	T	0.22134	1.97	2.46	1.42	0.22433	.	0.118666	0.64402	D	0.000008	T	0.10165	0.0249	N	0.22421	0.69	0.26106	N	0.980744	P	0.37061	0.58	B	0.26614	0.071	T	0.19289	-1.0310	10	0.72032	D	0.01	.	7.054	0.25089	0.0:0.8455:0.0:0.1545	.	559	Q2WGN9	GAB4_HUMAN	R	559	ENSP00000383431:Q559R	ENSP00000383431:Q559R	Q	-	2	0	GAB4	15823672	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	5.207000	0.65197	0.577000	0.29470	-0.427000	0.05922	CAG	-	NULL		0.612	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	protein_coding	OTTHUMT00000315426.1	T	XM_372882	-		17443672	-1	no_errors	ENST00000400588	ensembl	human	known	74_37	missense	SNP	1.000	C	C	17443672	T	C	17443672	3	2	236	1	0	0	0	0	1	0	0	0	6153	1580	55	5	52	5	GAB4	22	17443672	Missense_Mutation	SNP	T	TCGA-X6-A8C4-01A-11D-A36J-09		17443672	33860894	93	19189											
MAPK11	5600	genome.wustl.edu	37	chr22	50705444	50705444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatagccggtcatctcctCgtccgcctggcgcgccagcc	10	19	2	0	rs202139039		TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chr22:50705444C>T	ENST00000330651.6	-	7	629	c.529G>A	c.(529-531)Gag>Aag	p.E177K	MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_Missense_Mutation_p.E69K	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GTCATCTCCTCGTCCGCCTGG	0.657																																					GBM(9;634 739 50668)												0								ENSG00000185386						66	60	62					22																	50705444		2201	4299	6500	MAPK11	SO:0001583	missense	0			-	HGNC	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.529G>A	22.37:g.50705444C>T	ENSP00000333685:p.Glu177Lys	Somatic	0	26	0		0.635208746303704	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	17.78	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38,prints_MAPK_JNK	p.E177K	ENST00000330651.6	37	c.529	CCDS14090.1	22	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697830	0.48307	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.14516	2.5;2.5	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220722	0.38959	U	0.001505	T	0.15003	0.0362	N	0.21583	0.68	0.58432	D	0.999997	P;B	0.48764	0.915;0.026	P;B	0.48425	0.577;0.011	T	0.06570	-1.0819	10	0.27785	T	0.31	-22.0367	17.0156	0.86418	0.0:1.0:0.0:0.0	.	69;177	B7Z630;Q15759	.;MK11_HUMAN	K	177;69	ENSP00000333685:E177K;ENSP00000406921:E69K	ENSP00000333685:E177K	E	-	1	0	MAPK11	49047571	0.997000	0.39634	0.957000	0.39632	0.020000	0.10135	3.780000	0.55386	2.332000	0.79248	0.537000	0.68136	GAG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.657	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK11	protein_coding	OTTHUMT00000316900.1	C		rs202139039		50705444	-1	no_errors	ENST00000330651	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50705444	C	T	50705444	3	4	236	1	0	0	0	0	1	0	0	0	9275	893	31	1	589	1	MAPK11	22	50705444	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	33261772	50705444	599122	94	19190											
ARSE	415	genome.wustl.edu	37	chrX	2853045	2853045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccatcacctgatagaacAcgggctctgaggctggtgtg	13	10	2	3			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chrX:2853045A>G	ENST00000381134.3	-	11	1664	c.1598T>C	c.(1597-1599)gTg>gCg	p.V533A	ARSE_ENST00000540563.1_Missense_Mutation_p.V488A|ARSE_ENST00000545496.1_Missense_Mutation_p.V558A	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	533					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				CTGATAGAACACGGGCTCTGA	0.567																																																	0								ENSG00000157399						80	57	65					X																	2853045		2203	4300	6503	ARSE	SO:0001583	missense	0			-	HGNC	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1598T>C	X.37:g.2853045A>G	ENSP00000370526:p.Val533Ala	Somatic	0	169	0		0.635208746303704	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	75	43.61	Q53FT2|Q53FU8	Missense_Mutation	SNP							pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.V558A	ENST00000381134.3	37	c.1673	CCDS14122.1	X	.	.	.	.	.	.	.	.	.	.	A	1.689	-0.504532	0.04261	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.88586	-2.4;-2.4;-2.4	3.45	-5.49	0.02584	Alkaline-phosphatase-like, core domain (1);	0.877183	0.09880	N	0.743844	T	0.64832	0.2634	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.60234	-0.7303	10	0.08179	T	0.78	.	3.2013	0.06651	0.6009:0.1511:0.1221:0.126	.	488;558;533	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	A	488;558;533	ENSP00000438198:V488A;ENSP00000441417:V558A;ENSP00000370526:V533A	ENSP00000370526:V533A	V	-	2	0	ARSE	2863045	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.079000	0.11357	-1.178000	0.02741	0.235000	0.17854	GTG	-	superfamily_Alkaline_phosphatase_core		0.567	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	protein_coding	OTTHUMT00000055643.1	A	NM_000047	-		2853045	-1	no_errors	ENST00000545496	ensembl	human	known	74_37	missense	SNP	0.000	G	G	2853045	A	G	2853045	3	3	236	1	0	0	0	0	1	0	0	0	990	159	6	5	175	5	ARSE	23	2853045	Missense_Mutation	SNP	A	TCGA-X6-A8C4-01A-11D-A36J-09		2853045	152417515	95	19191											
SHROOM2	357	genome.wustl.edu	37	chrX	9905685	9905685	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagcaacggaggaagCtgctccccaaaatcccctct	8	16	1	0			TCGA-X6-A8C4-01A-11D-A36J-09	TCGA-X6-A8C4-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4e5c7c0-877e-45ea-a9b9-a756d3200749	b804d91b-cdb0-4084-bd79-21af0f262b5e	g.chrX:9905685C>G	ENST00000380913.3	+	7	4189	c.4099C>G	c.(4099-4101)Ctg>Gtg	p.L1367V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.L202V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1367	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)				ACGGAGGAAGCTGCTCCCCAA	0.557																																																	0								ENSG00000146950						39	31	34					X																	9905685		2203	4299	6502	SHROOM2	SO:0001583	missense	0			-	HGNC	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.4099C>G	X.37:g.9905685C>G	ENSP00000370299:p.Leu1367Val	Somatic	0	149	0		0.635208746303704	5	37.5	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	45	43.75	B9EIQ7	Missense_Mutation	SNP							pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1367V	ENST00000380913.3	37	c.4099	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916448	0.33815	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.29917	1.55;1.55;1.55	4.95	4.02	0.46733	Apx/shroom, ASD2 (2);	0.180691	0.38058	N	0.001837	T	0.34135	0.0887	N	0.19112	0.55	0.38801	D	0.955201	B;D	0.64830	0.008;0.994	B;D	0.63283	0.026;0.913	T	0.09975	-1.0650	10	0.22109	T	0.4	-12.2775	13.3015	0.60328	0.1587:0.8413:0.0:0.0	.	202;1367	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1367;202;202;202	ENSP00000370299:L1367V;ENSP00000415229:L202V;ENSP00000406724:L202V	ENSP00000370299:L1367V	L	+	1	2	SHROOM2	9865685	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.710000	0.54860	2.040000	0.60383	0.506000	0.49869	CTG	-	pfam_ASD2		0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	C	NM_001649	-		9905685	1	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	SNP	1.000	G	G	9905685	C	G	9905685	3	3	236	1	0	0	0	0	1	0	0	0	14302	796	28	4	4125	4	SHROOM2	23	9905685	Missense_Mutation	SNP	C	TCGA-X6-A8C4-01A-11D-A36J-09	7052640	9905685	145364875	96	19192											
CASZ1	54897	genome.wustl.edu	37	chr1	10719817	10719817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggagaaggttgacttcaGgtactcgggagtgttgaagg	16	4	1	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:10719817G>T	ENST00000377022.3	-	6	1599	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.L428M	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	428					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)		GTTGACTTCAGGTACTCGGGA	0.662																																																	0								ENSG00000130940						77	78	77					1																	10719817		2203	4300	6503	CASZ1	SO:0001583	missense	0			-	HGNC	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.1282C>A	1.37:g.10719817G>T	ENSP00000366221:p.Leu428Met	Somatic	0	53	0		0.553837475695234	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L428M	ENST00000377022.3	37	c.1282	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	g	14.43	2.534481	0.45073	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.13	4.23	0.50019	.	0.074545	0.56097	D	0.000033	T	0.50274	0.1606	N	0.22421	0.69	0.40502	D	0.980658	P;P;P;P	0.52316	0.949;0.902;0.902;0.952	P;B;B;B	0.52881	0.712;0.439;0.439;0.357	T	0.54077	-0.8347	9	0.46703	T	0.11	-12.4922	14.2207	0.65826	0.0722:0.0:0.9278:0.0	.	452;428;428;428	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	M	428	.	ENSP00000339445:L428M	L	-	1	2	CASZ1	10642404	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.245000	0.51407	1.326000	0.45319	-0.195000	0.12781	CTG	-	NULL		0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	G	NM_017766	-		10719817	-1	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	SNP	1.000	T	T	10719817	G	T	10719817	3	4	237	1	0	0	0	0	1	0	0	0	2687	991	35	3	4065	3	CASZ1	1	10719817	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		10719817	238530804	1	19193											
CROCC	9696	genome.wustl.edu	37	chr1	17263172	17263172	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctggcccggacatcaCgagctgtccaggaggcgggc	18	12	1	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:17263172C>T	ENST00000375541.5	+	9	1066	c.997C>T	c.(997-999)Cga>Tga	p.R333*	CROCC_ENST00000467938.1_3'UTR	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)		CCGGACATCACGAGCTGTCCA	0.662																																																	0								ENSG00000058453						8	9	8					1																	17263172		2116	4149	6265	CROCC	SO:0001587	stop_gained	0			-	HGNC	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.997C>T	1.37:g.17263172C>T	ENSP00000364691:p.Arg333*	Somatic	0	83	0		0.553837475695234	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Nonsense_Mutation	SNP							superfamily_Prefoldin,superfamily_t-SNARE	p.R333*	ENST00000375541.5	37	c.997	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758184	0.89843	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	3.91	0.854	0.19007	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8443	0.23980	0.3246:0.5889:0.0:0.0865	.	.	.	.	X	333;214	.	ENSP00000364691:R333X	R	+	1	2	CROCC	17135759	0.623000	0.27094	0.002000	0.10522	0.389000	0.30415	1.194000	0.32174	0.075000	0.16796	-0.362000	0.07510	CGA	-	NULL		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	C	NM_014675	-		17263172	1	no_errors	ENST00000375541	ensembl	human	known	74_37	nonsense	SNP	0.350	T	T	17263172	C	T	17263172	4	4	237	1	0	0	0	0	0	1	0	0	3895	528	19	1	1031	1	CROCC	1	17263172	Nonsense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	6543355	17263172	231987449	2	19194											
PADI2	11240	genome.wustl.edu	37	chr1	17445785	17445785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggctcacctgtagacatCggtccagaggtaggtgccca	13	13	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:17445785C>T	ENST00000375486.4	-	1	145	c.82G>A	c.(82-84)Gat>Aat	p.D28N	PADI2_ENST00000444885.2_Missense_Mutation_p.D28N|PADI2_ENST00000375481.1_Missense_Mutation_p.D28N	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	28					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)			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)	CTGTAGACATCGGTCCAGAGG	0.682																																																	0								ENSG00000117115						22	23	23					1																	17445785		2185	4264	6449	PADI2	SO:0001583	missense	0			-	HGNC	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.82G>A	1.37:g.17445785C>T	ENSP00000364635:p.Asp28Asn	Somatic	0	78	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q96DA7|Q9UPN2	Missense_Mutation	SNP							pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.D28N	ENST00000375486.4	37	c.82	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490295	0.64074	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.14640	2.49;2.49;2.49	4.5	4.5	0.54988	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.127542	0.51477	D	0.000083	T	0.30230	0.0758	L	0.55481	1.735	0.24949	N	0.9918	D;B	0.76494	0.999;0.268	D;B	0.77004	0.989;0.015	T	0.02539	-1.1144	10	0.46703	T	0.11	-19.6344	12.5581	0.56265	0.0:1.0:0.0:0.0	.	28;28	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	N	28	ENSP00000364635:D28N;ENSP00000405894:D28N;ENSP00000364630:D28N	ENSP00000364630:D28N	D	-	1	0	PADI2	17318372	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.624000	0.54231	2.327000	0.79052	0.462000	0.41574	GAT	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub		0.682	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	C		-		17445785	-1	no_errors	ENST00000375486	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17445785	C	T	17445785	3	4	237	1	0	0	0	0	1	0	0	0	11380	884	31	1	1979	1	PADI2	1	17445785	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	182613	17445785	231804836	3	19195											
HTR6	3362	genome.wustl.edu	37	chr1	19992517	19992517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaacgcgctgtacgggCgctgggtgctggcgcgcggc	19	12	0	1	rs201177761		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:19992517C>T	ENST00000289753.1	+	1	738	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	91					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GCTGTACGGGCGCTGGGTGCT	0.657																																					Esophageal Squamous(168;1879 2619 6848 21062)												0								ENSG00000158748						44	43	43					1																	19992517		2202	4298	6500	HTR6	SO:0001583	missense	0			-	HGNC	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.271C>T	1.37:g.19992517C>T	ENSP00000289753:p.Arg91Cys	Somatic	0	24	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	Q13640|Q5TGZ1	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.R91C	ENST00000289753.1	37	c.271	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584345	0.65992	.	.	ENSG00000158748	ENST00000289753	T	0.73258	-0.73	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.253351	0.41001	D	0.000970	T	0.65801	0.2726	N	0.17594	0.5	0.31124	N	0.708518	D	0.69078	0.997	P	0.58266	0.836	T	0.65861	-0.6065	9	.	.	.	.	10.8437	0.46730	0.1891:0.8109:0.0:0.0	.	91	P50406	5HT6R_HUMAN	C	91	ENSP00000289753:R91C	.	R	+	1	0	HTR6	19865104	0.992000	0.36948	1.000000	0.80357	0.986000	0.74619	1.490000	0.35573	2.048000	0.60808	0.485000	0.47835	CGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt		0.657	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	protein_coding	OTTHUMT00000007704.1	C	NM_000871	rs201177761		19992517	1	no_errors	ENST00000289753	ensembl	human	known	74_37	missense	SNP	1.000	T	T	19992517	C	T	19992517	3	4	237	1	0	0	0	0	1	0	0	0	7453	768	27	1	273	1	HTR6	1	19992517	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	2546732	19992517	229258104	4	19196											
ALPL	249	genome.wustl.edu	37	chr1	21887130	21887130	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgtttagagaaagagaaaGaccccaagtactggcgagac	12	7	0	4			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:21887130G>A	ENST00000374840.3	+	3	323	c.73G>A	c.(73-75)Gac>Aac	p.D25N	ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.D25N|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.D25N|ALPL_ENST00000539907.1_5'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	25					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GAAAGAGAAAGACCCCAAGTA	0.502																																																	0								ENSG00000162551						89	89	89					1																	21887130		2203	4300	6503	ALPL	SO:0001583	missense	0			-	HGNC	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.73G>A	1.37:g.21887130G>A	ENSP00000363973:p.Asp25Asn	Somatic	0	60	0		0.553837475695234	8	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	57	12.31	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP							pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.D25N	ENST00000374840.3	37	c.73	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	G	5.935	0.356616	0.11239	.	.	ENSG00000162551	ENST00000374840;ENST00000374832;ENST00000425315	D;D;D	0.95821	-3.82;-3.82;-3.82	5.71	4.7	0.59300	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.307211	0.40064	N	0.001200	D	0.88991	0.6588	N	0.20610	0.595	0.80722	D	1	B	0.16802	0.019	B	0.12837	0.008	D	0.83381	0.0012	10	0.11485	T	0.65	-13.4106	11.5449	0.50688	0.118:0.0:0.882:0.0	.	25	P05186	PPBT_HUMAN	N	25	ENSP00000363973:D25N;ENSP00000363965:D25N;ENSP00000394765:D25N	ENSP00000363965:D25N	D	+	1	0	ALPL	21759717	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	0.729000	0.26028	2.698000	0.92095	0.561000	0.74099	GAC	-	superfamily_Alkaline_phosphatase_core		0.502	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	protein_coding	OTTHUMT00000008202.1	G	NM_000478	-		21887130	1	no_errors	ENST00000374832	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21887130	G	A	21887130	3	1	237	1	0	0	0	0	1	0	0	0	547	942	33	2	79	2	ALPL	1	21887130	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	1894613	21887130	227363491	5	19197											
C1orf213	80818	genome.wustl.edu	37	chr1	23695985	23695985	+	5'Flank	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctagagagcacgggcaggtCccggaggtctcagacccgca	14	13	2	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:23695985C>G	ENST00000314011.4	-	0	0				C1orf213_ENST00000454117.1_Silent_p.V65V|ZNF436_ENST00000374608.3_5'Flank|Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000437367.2_Silent_p.V65V|C1orf213_ENST00000335648.3_Silent_p.V65V|C1orf213_ENST00000458053.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACGGGCAGGTCCCGGAGGTCT	0.567																																																	0								ENSG00000249087						58	62	61					1																	23695985		2203	4300	6503	C1orf213	SO:0001631	upstream_gene_variant	0			-	HGNC	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23695985C>G	Exception_encountered	Somatic	0	72	0		0.553837475695234	11	29.41	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	47	36.49	Q658I9	Silent	SNP							NULL	p.V65	ENST00000314011.4	37	c.195	CCDS233.1	1																																																																																			-	NULL		0.567	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf213	protein_coding	OTTHUMT00000008908.1	C	NM_030634	-		23695985	1	no_errors	ENST00000335648	ensembl	human	known	74_37	silent	SNP	0.009	G	G	23695985	C	G	23695985	1	3	237	0	1	0	0	0	0	0	0	0	2032	842	30	4		4	C1orf213	1	23695985	5'Flank	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	1808855	23695985	225554636	6	19198											
ABCA4	24	genome.wustl.edu	37	chr1	94544976	94544976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagcgattttggttaaagGatttgactccaggctctgga	11	8	1	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:94544976G>A	ENST00000370225.3	-	9	1227	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	ABCA4_ENST00000535735.1_Missense_Mutation_p.P381S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	381					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)		TTGGTTAAAGGATTTGACTCC	0.448																																																	0								ENSG00000198691						85	82	83					1																	94544976		2203	4300	6503	ABCA4	SO:0001583	missense	0			-	HGNC	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.1141C>T	1.37:g.94544976G>A	ENSP00000359245:p.Pro381Ser	Somatic	0	86	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	56	40.43	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.P381S	ENST00000370225.3	37	c.1141	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855822	0.51376	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.89617	-2.54;-2.54	5.36	3.46	0.39613	.	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	M	0.77313	2.365	0.53688	D	0.999974	D;B	0.71674	0.998;0.36	D;B	0.74348	0.983;0.143	D	0.90574	0.4524	10	0.56958	D	0.05	.	8.8152	0.34991	0.0699:0.0:0.6631:0.267	.	381;381	F5H6E5;P78363	.;ABCA4_HUMAN	S	381	ENSP00000359245:P381S;ENSP00000437682:P381S	ENSP00000359245:P381S	P	-	1	0	ABCA4	94317564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.070000	0.71220	0.813000	0.34350	0.561000	0.74099	CCT	-	tigrfam_Rim_ABC_transpt		0.448	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	G	NM_000350	-		94544976	-1	no_errors	ENST00000370225	ensembl	human	known	74_37	missense	SNP	1.000	A	A	94544976	G	A	94544976	3	1	237	1	0	0	0	0	1	0	0	0	34	1174	41	2	5848	2	ABCA4	1	94544976	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	70848991	94544976	154705645	7	19199											
ATP1A2	477	genome.wustl.edu	37	chr1	160100061	160100061	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgcctacatggagctgggggGacttggggagcgtgtgctgg	20	7	0	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:160100061G>C	ENST00000361216.3	+	12	1720	c.1631G>C	c.(1630-1632)gGa>gCa	p.G544A	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G544A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	544					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAGCTGGGGGGACTTGGGGAG	0.617																																																	0								ENSG00000018625						57	58	58					1																	160100061		2203	4300	6503	ATP1A2	SO:0001583	missense	0			-	HGNC	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1631G>C	1.37:g.160100061G>C	ENSP00000354490:p.Gly544Ala	Somatic	0	91	0		0.553837475695234	19	57.78	26	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	63	40.74	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP							pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G544A	ENST00000361216.3	37	c.1631	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.583103|3.583103	0.65992|0.65992	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|T;T	.|0.79352	.|-1.26;-1.26	4.61|4.61	4.61|4.61	0.57282|0.57282	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76399|0.76399	0.3982|0.3982	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63880	.|0.993;0.992;0.993	.|D;D;D	.|0.71414	.|0.973;0.954;0.973	T|T	0.81618|0.81618	-0.0851|-0.0851	5|10	.|0.87932	.|D	.|0	.|.	16.564|16.564	0.84574|0.84574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|544;444;544	.|B1AKY9;F5GXJ7;P50993	.|.;.;AT1A2_HUMAN	H|A	255|544;544;247	.|ENSP00000354490:G544A;ENSP00000376066:G544A	.|ENSP00000354490:G544A	D|G	+|+	1|2	0|0	ATP1A2|ATP1A2	158366685|158366685	1.000000|1.000000	0.71417|0.71417	0.870000|0.870000	0.34147|0.34147	0.853000|0.853000	0.48598|0.48598	9.614000|9.614000	0.98353|0.98353	2.283000|2.283000	0.76528|0.76528	0.511000|0.511000	0.50034|0.50034	GAC|GGA	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC		0.617	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	G	NM_000702	-		160100061	1	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	SNP	1.000	C	C	160100061	G	C	160100061	3	2	237	1	0	0	0	0	1	0	0	0	1129	1174	41	4	1677	4	ATP1A2	1	160100061	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	65555085	160100061	89150560	8	19200											
METTL13	51603	genome.wustl.edu	37	chr1	171755160	171755160	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcatggaccacatccaagCtgagctgtcggctagagtca	11	11	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:171755160C>G	ENST00000361735.3	+	3	1321	c.1055C>G	c.(1054-1056)gCt>gGt	p.A352G	METTL13_ENST00000458517.1_Missense_Mutation_p.A351G|METTL13_ENST00000362019.3_Missense_Mutation_p.A266G|METTL13_ENST00000367737.5_Missense_Mutation_p.A196G	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	352							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CACATCCAAGCTGAGCTGTCG	0.577																																																	0								ENSG00000010165						58	49	52					1																	171755160		2203	4300	6503	METTL13	SO:0001583	missense	0			-	HGNC	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1055C>G	1.37:g.171755160C>G	ENSP00000354920:p.Ala352Gly	Somatic	0	58	0		0.553837475695234	23	25.81	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP							pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.A352G	ENST00000361735.3	37	c.1055	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019075	0.54576	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.36	3.37	0.38596	.	0.425513	0.26321	N	0.025053	T	0.36441	0.0967	L	0.50333	1.59	0.35953	D	0.834052	B;D;P	0.57257	0.048;0.979;0.488	B;P;B	0.56434	0.02;0.798;0.114	T	0.13710	-1.0499	10	0.23891	T	0.37	-29.6773	13.5459	0.61705	0.2809:0.7191:0.0:0.0	.	351;196;352	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	G	351;266;196;352	ENSP00000401955:A351G;ENSP00000355393:A266G;ENSP00000356711:A196G;ENSP00000354920:A352G	ENSP00000354920:A352G	A	+	2	0	METTL13	170021783	0.998000	0.40836	0.896000	0.35187	0.917000	0.54804	3.762000	0.55250	1.448000	0.47680	0.561000	0.74099	GCT	-	NULL		0.577	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	protein_coding	OTTHUMT00000084528.5	C	NM_014955	-		171755160	1	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	SNP	0.986	G	G	171755160	C	G	171755160	3	3	237	1	0	0	0	0	1	0	0	0	9499	797	28	4	1065	4	METTL13	1	171755160	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	11655099	171755160	77495461	9	19201											
ZNF648	127665	genome.wustl.edu	37	chr1	182026873	182026873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatttccactggtttctgCcccatgcccccagcactgga	8	16	1	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:182026873C>T	ENST00000339948.3	-	2	480	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	91					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						CTGGTTTCTGCCCCATGCCCC	0.552																																					NSCLC(71;908 1374 5429 20458 35642)												0								ENSG00000179930						85	85	85					1																	182026873		2203	4300	6503	ZNF648	SO:0001819	synonymous_variant	0			-	HGNC	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.273G>A	1.37:g.182026873C>T		Somatic	0	56	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2RP16	Silent	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G91	ENST00000339948.3	37	c.273	CCDS30952.1	1																																																																																			-	NULL		0.552	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	protein_coding	OTTHUMT00000090794.1	C	XM_060597	-		182026873	-1	no_errors	ENST00000339948	ensembl	human	novel	74_37	silent	SNP	0.098	T	T	182026873	C	T	182026873	2	4	237	1	0	0	0	0	0	0	0	1	18070	726	26	2		2	ZNF648	1	182026873	Silent	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	10271713	182026873	67223748	10	19202											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227307591	227307591	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcatcatctagttcttGcctcacagcattagcttctt	5	11	5	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr1:227307591G>A	ENST00000366769.3	-	12	2852	c.1561C>T	c.(1561-1563)Caa>Taa	p.Q521*	CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.Q521*|CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.Q521*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.Q521*|CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.Q521*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.Q521*|CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.Q521*	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTAGTTCTTGCCTCACAGCA	0.303																																																	0								ENSG00000143776						123	113	116					1																	227307591		2200	4299	6499	CDC42BPA	SO:0001587	stop_gained	0			-	HGNC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1561C>T	1.37:g.227307591G>A	ENSP00000355731:p.Gln521*	Somatic	0	37	0		0.553837475695234	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Nonsense_Mutation	SNP							pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.Q521*	ENST00000366769.3	37	c.1561	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.631361	0.99840	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.	.	.	5.47	3.52	0.40303	.	0.432330	0.26293	N	0.025207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	12.1907	0.54270	0.0:0.1305:0.7337:0.1359	.	.	.	.	X	521	.	ENSP00000335341:Q521X	Q	-	1	0	CDC42BPA	225374214	0.110000	0.22057	0.788000	0.31933	0.993000	0.82548	2.443000	0.44881	0.602000	0.29896	0.650000	0.86243	CAA	-	NULL		0.303	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	protein_coding	OTTHUMT00000091696.1	G	NM_014826	-		227307591	-1	no_errors	ENST00000334218	ensembl	human	known	74_37	nonsense	SNP	0.972	A	A	227307591	G	A	227307591	4	1	237	1	0	0	0	0	0	1	0	0	3074	1328	46	2	3698	2	CDC42BPA	1	227307591	Nonsense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	45280718	227307591	21943030	11	19203											
NRXN1	9378	genome.wustl.edu	37	chr2	50280726	50280726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaagattgtgagctgacGccctgtaaaaataatattac	8	6	0	4			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr2:50280726G>A	ENST00000406316.2	-	20	5197	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	NRXN1_ENST00000401669.2_Missense_Mutation_p.R1271C|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1311C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1263C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1241C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1263C|NRXN1_ENST00000342183.5_Missense_Mutation_p.R206C|NRXN1_ENST00000401710.1_Missense_Mutation_p.R259C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1241	Laminin G-like 6. {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)			GTGAGCTGACGCCCTGTAAAA	0.413																																																	0								ENSG00000179915						56	58	57					2																	50280726		2203	4300	6503	NRXN1	SO:0001583	missense	0			-	HGNC	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.3721C>T	2.37:g.50280726G>A	ENSP00000384311:p.Arg1241Cys	Somatic	0	50	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP							pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1263C	ENST00000406316.2	37	c.3787	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489993	0.64074	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79352	0.91;-1.17;-1.26;-1.17;-1.26;-1.26;-1.26;-1.17	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.52532	U	0.000077	D	0.90431	0.7004	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.993;0.997	P;D;P;P	0.79784	0.803;0.993;0.808;0.802	D	0.91626	0.5315	10	0.87932	D	0	.	19.7195	0.96136	0.0:0.0:1.0:0.0	.	1311;206;1241;1263	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	C	206;160;259;1311;1241;1263;1271;1312;1263;1241	ENSP00000341184:R206C;ENSP00000385580:R259C;ENSP00000385142:R1311C;ENSP00000384311:R1241C;ENSP00000434015:R1263C;ENSP00000385017:R1271C;ENSP00000385434:R1263C;ENSP00000385681:R1241C	ENSP00000341184:R206C	R	-	1	0	NRXN1	50134230	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.663000	0.90544	0.655000	0.94253	CGT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	G		-		50280726	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50280726	G	A	50280726	3	1	237	1	0	0	0	0	1	0	0	0	10667	1087	38	1	724	1	NRXN1	2	50280726	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		50280726	192918647	12	19204											
CTNNA2	1496	genome.wustl.edu	37	chr2	80101392	80101392	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcatctccaatgctgctcAagctacctcgcccactgacg	8	17	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr2:80101392A>C	ENST00000402739.4	+	5	781	c.776A>C	c.(775-777)cAa>cCa	p.Q259P	CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q259P|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q259P|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q293P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q259P|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q259P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	259					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)			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						AATGCTGCTCAAGCTACCTCG	0.577																																																	0								ENSG00000066032						45	49	48					2																	80101392		2073	4204	6277	CTNNA2	SO:0001583	missense	0			-	HGNC		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.776A>C	2.37:g.80101392A>C	ENSP00000384638:p.Gln259Pro	Somatic	0	74	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	28	50.88	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP							pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q293P	ENST00000402739.4	37	c.878		2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719406	0.89205	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.86502	2.82	0.80722	D	1	D;D;D	0.61697	0.985;0.99;0.99	D;D;D	0.66716	0.946;0.939;0.939	T	0.77613	-0.2522	10	0.66056	D	0.02	.	15.9971	0.80260	1.0:0.0:0.0:0.0	.	259;259;259	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	P	259;259;293;259;259;259	ENSP00000418191:Q259P;ENSP00000419295:Q259P;ENSP00000355398:Q293P;ENSP00000384638:Q259P;ENSP00000444675:Q259P;ENSP00000441705:Q259P	ENSP00000355398:Q293P	Q	+	2	0	CTNNA2	79954900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.175000	0.68902	0.528000	0.53228	CAA	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.577	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	protein_coding	OTTHUMT00000328511.4	A	NM_004389	-		80101392	1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	SNP	1.000	C	C	80101392	A	C	80101392	3	2	237	1	0	0	0	0	1	0	0	0	4015	130	5	5	794	5	CTNNA2	2	80101392	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	29820666	80101392	163097981	13	19205											
DNAH7	56171	genome.wustl.edu	37	chr2	196642547	196642547	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accagaaggaggaacaaaatAgatgccacttgagtcgaact	10	8	0	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr2:196642547A>T	ENST00000312428.6	-	59	11141	c.11041T>A	c.(11041-11043)Tat>Aat	p.Y3681N	DNAH7_ENST00000409063.1_Missense_Mutation_p.Y164N	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3681					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAACAAAATAGATGCCACTT	0.378																																																	0								ENSG00000118997						118	112	114					2																	196642547		1961	4151	6112	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11041T>A	2.37:g.196642547A>T	ENSP00000311273:p.Tyr3681Asn	Somatic	0	44	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.Y3681N	ENST00000312428.6	37	c.11041	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093925	0.76870	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.08370	3.1;3.1	4.98	4.98	0.66077	Dynein heavy chain (1);	1.798840	0.02983	N	0.145827	T	0.53126	0.1777	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41662	-0.9496	10	0.87932	D	0	.	14.4951	0.67680	1.0:0.0:0.0:0.0	.	3681	Q8WXX0	DYH7_HUMAN	N	3681;164	ENSP00000311273:Y3681N;ENSP00000386912:Y164N	ENSP00000311273:Y3681N	Y	-	1	0	DNAH7	196350792	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	8.590000	0.90821	2.088000	0.63022	0.533000	0.62120	TAT	-	pfam_Dynein_heavy_dom		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	A	NM_018897	-		196642547	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	T	T	196642547	A	T	196642547	3	4	237	1	0	0	0	0	1	0	0	0	4608	420	15	5	1061	5	DNAH7	2	196642547	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	116541155	196642547	46556826	14	19206											
SGOL2	151246	genome.wustl.edu	37	chr2	201437697	201437697	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagataatggaaatttatgTgattatgacacccagaatat	7	4	0	4			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr2:201437697T>A	ENST00000357799.4	+	7	2726	c.2628T>A	c.(2626-2628)tgT>tgA	p.C876*		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	876					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAAATTTATGTGATTATGACA	0.303																																																	0								ENSG00000163535						82	84	83					2																	201437697		1805	4054	5859	SGOL2	SO:0001587	stop_gained	0			-	HGNC	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2628T>A	2.37:g.201437697T>A	ENSP00000350447:p.Cys876*	Somatic	0	42	0		0.553837475695234	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Nonsense_Mutation	SNP							NULL	p.C876*	ENST00000357799.4	37	c.2628	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216796	0.79352	.	.	ENSG00000163535	ENST00000357799	.	.	.	4.7	3.55	0.40652	.	0.757356	0.11335	N	0.574592	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	0.3911	6.9437	0.24506	0.0:0.1035:0.0:0.8965	.	.	.	.	X	876	.	ENSP00000350447:C876X	C	+	3	2	SGOL2	201145942	0.001000	0.12720	0.018000	0.16275	0.054000	0.15201	0.113000	0.15499	0.947000	0.37659	0.477000	0.44152	TGT	-	NULL		0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	protein_coding	OTTHUMT00000335834.1	T	NM_152524	-		201437697	1	no_errors	ENST00000357799	ensembl	human	known	74_37	nonsense	SNP	0.012	A	A	201437697	T	A	201437697	4	1	237	1	0	0	0	0	0	1	0	0	14225	1702	59	5	2650	5	SGOL2	2	201437697	Nonsense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	4795150	201437697	41761676	15	19207											
CXCR1	3577	genome.wustl.edu	37	chr2	219029327	219029327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggtgtgaggcaggatcCgcaacaccatccgccatttt	10	12	0	1	rs538588993		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr2:219029327C>T	ENST00000295683.2	-	2	728	c.608G>A	c.(607-609)cGg>cAg	p.R203Q		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	203					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.R203Q(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	AGGCAGGATCCGCAACACCAT	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		23628	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	prostate(1)						ENSG00000163464						106	93	97					2																	219029327		2203	4300	6503	CXCR1	SO:0001583	missense	0			-	HGNC	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.608G>A	2.37:g.219029327C>T	ENSP00000295683:p.Arg203Gln	Somatic	0	50	0		0.553837475695234	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	20.00	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.R203Q	ENST00000295683.2	37	c.608	CCDS2409.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984602	0.93044	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.37058	1.22	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.179642	0.48767	D	0.000179	T	0.53802	0.1819	L	0.59967	1.855	0.49915	D	0.999835	D	0.60160	0.987	P	0.62491	0.903	T	0.54063	-0.8349	10	0.46703	T	0.11	.	16.859	0.86013	0.0:1.0:0.0:0.0	.	203	P25024	CXCR1_HUMAN	Q	203;147	ENSP00000295683:R203Q	ENSP00000295683:R203Q	R	-	2	0	CXCR1	218737572	0.992000	0.36948	0.274000	0.24659	0.968000	0.65278	4.840000	0.62817	2.314000	0.78098	0.561000	0.74099	CGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn		0.522	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR1	protein_coding	OTTHUMT00000256773.2	C	NM_000634	-		219029327	-1	no_errors	ENST00000295683	ensembl	human	known	74_37	missense	SNP	0.997	T	T	219029327	C	T	219029327	3	4	237	1	0	0	0	0	1	0	0	0	4092	652	23	1	448	1	CXCR1	2	219029327	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	17591630	219029327	24170046	16	19208											
KBTBD8	84541	genome.wustl.edu	37	chr3	67049586	67049586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattttcctgtcatagaaaCgttcttgctgcaatcagccc	6	12	3	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr3:67049586C>A	ENST00000417314.2	+	2	247	c.198C>A	c.(196-198)aaC>aaA	p.N66K	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.N40K|KBTBD8_ENST00000469661.1_3'UTR			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	66	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTCATAGAAACGTTCTTGCTG	0.438																																																	0								ENSG00000163376						185	172	177					3																	67049586		2203	4300	6503	KBTBD8	SO:0001583	missense	0			-	HGNC	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.198C>A	3.37:g.67049586C>A	ENSP00000401878:p.Asn66Lys	Somatic	0	131	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	58	37.63	B4DTW6|Q96JI5	Missense_Mutation	SNP							pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.N66K	ENST00000417314.2	37	c.198	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702546	0.68501	.	.	ENSG00000163376	ENST00000295568;ENST00000417314;ENST00000460784	T;T;T	0.66815	-0.23;-0.23;-0.23	5.62	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.136504	0.64402	D	0.000003	T	0.75361	0.3839	M	0.87971	2.92	0.48696	D	0.999697	P	0.48503	0.911	P	0.53722	0.733	T	0.78505	-0.2178	10	0.72032	D	0.01	.	4.796	0.13272	0.0:0.6311:0.2121:0.1569	.	66	Q8NFY9	KBTB8_HUMAN	K	40;66;40	ENSP00000295568:N40K;ENSP00000401878:N66K;ENSP00000418075:N40K	ENSP00000295568:N40K	N	+	3	2	KBTBD8	67132276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.948000	0.56660	2.809000	0.96659	0.467000	0.42956	AAC	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.438	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	protein_coding	OTTHUMT00000352189.1	C	NM_032505	-		67049586	1	no_errors	ENST00000417314	ensembl	human	known	74_37	missense	SNP	1.000	A	A	67049586	C	A	67049586	3	1	237	1	0	0	0	0	1	0	0	0	8001	535	19	3	204	3	KBTBD8	3	67049586	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09		67049586	130972844	17	19209											
RG9MTD1	54931	genome.wustl.edu	37	chr3	101283705	101283705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgccatttacccttcAtaggaagagaaataacttaa	7	7	1	1	rs185404702		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr3:101283705A>T	ENST00000309922.6	+	2	234	c.80A>T	c.(79-81)cAt>cTt	p.H27L		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	27					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TTTACCCTTCATAGGAAGAGA	0.383																																																	0								ENSG00000174173						147	138	141					3																	101283705		1820	4076	5896	TRMT10C	SO:0001583	missense	0			-	HGNC	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.80A>T	3.37:g.101283705A>T	ENSP00000312356:p.His27Leu	Somatic	0	38	0		0.553837475695234	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP							pfam_tRNA_m1G_MeTrfase	p.H27L	ENST00000309922.6	37	c.80	CCDS43122.1	3	.	.	.	.	.	.	.	.	.	.	A	5.716	0.316529	0.10845	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.26518	2.38;1.73	5.86	2.13	0.27403	.	1.466360	0.03751	N	0.256557	T	0.15565	0.0375	N	0.24115	0.695	0.09310	N	1	P	0.35433	0.501	B	0.25140	0.058	T	0.21621	-1.0240	10	0.22109	T	0.4	-0.28	6.9442	0.24510	0.6396:0.2873:0.0731:0.0	.	27	Q7L0Y3	MRRP1_HUMAN	L	27	ENSP00000312356:H27L;ENSP00000419389:H27L	ENSP00000312356:H27L	H	+	2	0	RG9MTD1	102766395	0.000000	0.05858	0.173000	0.22940	0.862000	0.49288	0.579000	0.23788	0.436000	0.26393	0.460000	0.39030	CAT	-	NULL		0.383	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	protein_coding	OTTHUMT00000353400.2	A	NM_017819	-		101283705	1	no_errors	ENST00000309922	ensembl	human	known	74_37	missense	SNP	0.002	T	T	101283705	A	T	101283705	3	4	237	1	0	0	0	0	1	0	0	0	13279	217	8	5	82	5	RG9MTD1	3	101283705	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	34234119	101283705	96738725	18	19210											
PCGF3	10336	genome.wustl.edu	37	chr4	737278	737278	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagcggaaatgagaaagcaGagggagttctatcacaaatt	12	6	2	2	rs538604823		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr4:737278G>T	ENST00000362003.5	+	7	674	c.279G>T	c.(277-279)caG>caT	p.Q93H	PCGF3_ENST00000470161.2_Missense_Mutation_p.Q93H|PCGF3_ENST00000521023.2_Missense_Mutation_p.Q59H|PCGF3_ENST00000505655.2_Missense_Mutation_p.Q93H	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						TGAGAAAGCAGAGGGAGTTCT	0.448																																																	0								ENSG00000185619						84	90	88					4																	737278		1933	4139	6072	PCGF3	SO:0001583	missense	0			-	HGNC	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.279G>T	4.37:g.737278G>T	ENSP00000354724:p.Gln93His	Somatic	0	66	0		0.553837475695234	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	D3DVN1|O15262	Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q93H	ENST00000362003.5	37	c.279	CCDS3339.2	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148303	0.78001	.	.	ENSG00000185619	ENST00000362003;ENST00000470161;ENST00000521023;ENST00000433814;ENST00000505655	T;T;T;T	0.44083	0.93;0.93;0.94;0.93	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	N	0.22421	0.69	0.54753	D	0.999985	B;D;P	0.54964	0.058;0.969;0.925	B;P;B	0.50970	0.086;0.655;0.326	T	0.37820	-0.9689	10	0.56958	D	0.05	-36.8576	16.2299	0.82323	0.0:0.0:1.0:0.0	.	59;59;93	B3KWT8;B3KQ06;Q3KNV8	.;.;PCGF3_HUMAN	H	93;93;59;93;93	ENSP00000354724:Q93H;ENSP00000420489:Q93H;ENSP00000398493:Q93H;ENSP00000423393:Q93H	ENSP00000354724:Q93H	Q	+	3	2	PCGF3	727278	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	5.701000	0.68325	2.434000	0.82447	0.655000	0.94253	CAG	-	NULL		0.448	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	protein_coding	OTTHUMT00000239197.2	G	NM_006315	-		737278	1	no_errors	ENST00000362003	ensembl	human	known	74_37	missense	SNP	1.000	T	T	737278	G	T	737278	3	4	237	1	0	0	0	0	1	0	0	0	11578	933	33	3	293	3	PCGF3	4	737278	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		737278	190416998	19	19211											
FAM53A	152877	genome.wustl.edu	37	chr4	1670402	1670402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgcttaccgggccagCctccgccttgcaggtgaggt	14	14	0	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr4:1670402C>T	ENST00000308132.6	-	2	259	c.67G>A	c.(67-69)Gct>Act	p.A23T	FAM53A_ENST00000489363.1_Missense_Mutation_p.A23T|FAM53A_ENST00000461064.1_Missense_Mutation_p.A23T|FAM53A_ENST00000472884.2_Missense_Mutation_p.A23T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	23						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ACCGGGCCAGCCTCCGCCTTG	0.657																																																	0								ENSG00000174137						75	67	70					4																	1670402		2203	4300	6503	FAM53A	SO:0001583	missense	0			-	HGNC	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.67G>A	4.37:g.1670402C>T	ENSP00000310057:p.Ala23Thr	Somatic	0	47	0		0.553837475695234	5	16.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	20	52.38	Q6ZUL5	Missense_Mutation	SNP							NULL	p.A23T	ENST00000308132.6	37	c.67	CCDS33939.1	4	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745920	0.30955	.	.	ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884;ENST00000463238	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	3.97	2.8	0.32819	.	0.920676	0.08943	U	0.871313	T	0.49321	0.1550	L	0.54323	1.7	0.24983	N	0.991581	D;D	0.65815	0.995;0.993	P;D	0.63033	0.894;0.91	T	0.41520	-0.9504	10	0.17832	T	0.49	-1.7239	4.0168	0.09647	0.0:0.714:0.0:0.286	.	23;23	Q6NSI3;C9JYQ7	FA53A_HUMAN;.	T	23	ENSP00000310057:A23T;ENSP00000419044:A23T;ENSP00000418243:A23T;ENSP00000426260:A23T;ENSP00000417615:A23T	ENSP00000310057:A23T	A	-	1	0	FAM53A	1640200	0.455000	0.25736	0.937000	0.37676	0.154000	0.21943	0.547000	0.23299	1.932000	0.55993	0.462000	0.41574	GCT	-	NULL		0.657	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53A	protein_coding	OTTHUMT00000359224.1	C	NM_001013622	-		1670402	-1	no_errors	ENST00000308132	ensembl	human	known	74_37	missense	SNP	0.946	T	T	1670402	C	T	1670402	3	4	237	1	0	0	0	0	1	0	0	0	5581	739	26	2	1145	2	FAM53A	4	1670402	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	933124	1670402	189483874	20	19212											
CRMP1	1400	genome.wustl.edu	37	chr4	5857870	5857870	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttccgaggctttaactgacCtttgtcctgcaccagcacct	8	14	0	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr4:5857870C>G	ENST00000397890.2	-	4	692	c.478G>C	c.(478-480)Ggc>Cgc	p.G160R	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Splice_Site_p.G274R|CRMP1_ENST00000512574.1_Splice_Site_p.G158R	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	160					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTTAACTGACCTTTGTCCTGC	0.512																																																	0								ENSG00000072832						100	87	91					4																	5857870		2203	4300	6503	CRMP1	SO:0001630	splice_region_variant	0			-	HGNC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.478+1G>C	4.37:g.5857870C>G		Somatic	0	57	0		0.553837475695234	34	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	34	35.85	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP							pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G274R	ENST00000397890.2	37	c.820	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	c	19.91	3.913958	0.72983	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.94650	-3.48;-3.48;-3.48	3.09	3.09	0.35607	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.119994	0.56097	D	0.000027	D	0.98172	0.9396	H	0.97983	4.12	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;0.999;1.0;1.0	D	0.98860	1.0762	9	.	.	.	-14.7024	13.358	0.60640	0.0:1.0:0.0:0.0	.	274;158;160;97	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	R	274;160;160;158	ENSP00000321606:G274R;ENSP00000380987:G160R;ENSP00000425742:G158R	.	G	-	1	0	CRMP1	5908771	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.118000	0.77137	1.577000	0.49804	0.537000	0.68136	GGC	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.512	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	protein_coding	OTTHUMT00000358871.1	C	NM_001313	-	Missense_Mutation	5857870	-1	no_errors	ENST00000324989	ensembl	human	known	74_37	missense	SNP	1.000	G	G	5857870	C	G	5857870	5	3	237	1	0	0	0	0	0	0	1	0	3892	695	24	4	1284	4	CRMP1	4	5857870	Splice_Site	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	4187468	5857870	185296406	21	19213			1	100		2	2	23	C		6.11157e-05
CRMP1	1400	genome.wustl.edu	37	chr4	5857892	5857892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcaccagcacctcCagctcctcccgaacgccatc	6	20	0	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr4:5857892C>T	ENST00000397890.2	-	4	670	c.456G>A	c.(454-456)ctG>ctA	p.L152L	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.L266L|CRMP1_ENST00000512574.1_Silent_p.L150L	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	152					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCAGCACCTCCAGCTCCTCCC	0.512																																																	0								ENSG00000072832						109	94	99					4																	5857892		2203	4300	6503	CRMP1	SO:0001819	synonymous_variant	0			-	HGNC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.456G>A	4.37:g.5857892C>T		Somatic	0	62	0		0.553837475695234	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP							pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L266	ENST00000397890.2	37	c.798	CCDS43207.1	4																																																																																			-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.512	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	protein_coding	OTTHUMT00000358871.1	C	NM_001313	-		5857892	-1	no_errors	ENST00000324989	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5857892	C	T	5857892	2	4	237	1	0	0	0	0	0	0	0	1	3892	581	21	2		2	CRMP1	4	5857892	Silent	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	22	5857892	185296384	22	19214			1	100		2	2	23	C		6.11157e-05
PDE5A	8654	genome.wustl.edu	37	chr4	120549677	120549677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggtcctcttcttacctGgtggcttttctaacaaagta	9	10	3	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr4:120549677G>A	ENST00000354960.3	-	1	469	c.150C>T	c.(148-150)acC>acT	p.T50T	PDE5A_ENST00000264805.5_5'Flank|PDE5A_ENST00000394439.1_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	50					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CTTCTTACCTGGTGGCTTTTC	0.542											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000138735						86	81	83					4																	120549677		2203	4300	6503	PDE5A	SO:0001819	synonymous_variant	0			-	HGNC	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.150C>T	4.37:g.120549677G>A		Somatic	1	116	0.85	1504	0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	48	42.17	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Silent	SNP							pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T50	ENST00000354960.3	37	c.150	CCDS3713.1	4																																																																																			-	NULL		0.542	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	protein_coding	OTTHUMT00000256529.1	G	NM_001083	-		120549677	-1	no_errors	ENST00000354960	ensembl	human	known	74_37	silent	SNP	1.000	A	A	120549677	G	A	120549677	2	1	237	1	0	0	0	0	0	0	0	1	11646	1335	47	2		2	PDE5A	4	120549677	Silent	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	114691785	120549677	70604599	23	19215											
PLK4	10733	genome.wustl.edu	37	chr4	128812805	128812805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccctcacctactgacaaCatcagtaggtacagctttga	6	14	2	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr4:128812805C>T	ENST00000270861.5	+	9	2281	c.2007C>T	c.(2005-2007)aaC>aaT	p.N669N	PLK4_ENST00000507249.1_Silent_p.N608N|PLK4_ENST00000513090.1_Silent_p.N637N|PLK4_ENST00000515069.1_Silent_p.N591N|PLK4_ENST00000514379.1_Silent_p.N628N|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	669					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTACTGACAACATCAGTAGGT	0.318																																					Colon(135;508 1718 19061 31832 42879)												0								ENSG00000142731						89	97	94					4																	128812805		2203	4300	6503	PLK4	SO:0001819	synonymous_variant	0			-	HGNC	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2007C>T	4.37:g.128812805C>T		Somatic	0	260	0		0.553837475695234	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	106	155	40.61	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.N669	ENST00000270861.5	37	c.2007	CCDS3735.1	4																																																																																			-	NULL		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	protein_coding	OTTHUMT00000257095.3	C		-		128812805	1	no_errors	ENST00000270861	ensembl	human	known	74_37	silent	SNP	1.000	T	T	128812805	C	T	128812805	2	4	237	1	0	0	0	0	0	0	0	1	12100	477	17	2		2	PLK4	4	128812805	Silent	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	8263128	128812805	62341471	24	19216											
RGMB	285704	genome.wustl.edu	37	chr5	98115446	98115446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaacttcaaaagcctgccGtggcaacctggtataccatt	9	12	1	0	rs35699029		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr5:98115446G>A	ENST00000513185.1	+	2	735	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RGMB_ENST00000308234.7_Missense_Mutation_p.R141H|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	100					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AAAGCCTGCCGTGGCAACCTG	0.537																																																	0								ENSG00000174136						72	74	73					5																	98115446		1961	4147	6108	RGMB	SO:0001583	missense	0			-	HGNC	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.299G>A	5.37:g.98115446G>A	ENSP00000423256:p.Arg100His	Somatic	0	43	0		0.553837475695234	146	2.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	D6R9A0|Q8NC92	Missense_Mutation	SNP							pfam_RGM_C,pfam_RGM_N	p.R141H	ENST00000513185.1	37	c.422		5	.	.	.	.	.	.	.	.	.	.	G	33	5.288456	0.95517	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.98028	-4.67;-4.67	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99053	1.0828	10	0.54805	T	0.06	-14.6506	19.5247	0.95199	0.0:0.0:1.0:0.0	rs35699029	100	Q6NW40	RGMB_HUMAN	H	141;100	ENSP00000308219:R141H;ENSP00000423256:R100H	ENSP00000308219:R141H	R	+	2	0	RGMB	98143346	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.420000	0.97426	2.689000	0.91719	0.563000	0.77884	CGT	-	pfam_RGM_N		0.537	RGMB-003	KNOWN	basic	protein_coding	RGMB	protein_coding	OTTHUMT00000370308.1	G	NM_173670	rs35699029		98115446	1	no_errors	ENST00000308234	ensembl	human	known	74_37	missense	SNP	1.000	A	A	98115446	G	A	98115446	3	1	237	1	0	0	0	0	1	0	0	0	13289	1145	40	1	432	1	RGMB	5	98115446	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		98115446	82799814	25	19217											
STK10	6793	genome.wustl.edu	37	chr5	171583763	171583763	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaatgactttggccgcAgccaaagcacccgtctcctt	8	14	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr5:171583763A>G	ENST00000176763.5	-	2	529	c.186T>C	c.(184-186)gcT>gcC	p.A62A		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			A -> V (in Ref. 5; AAH70077). {ECO:0000305}.	cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTGGCCGCAGCCAAAGCAC	0.552																																																	0								ENSG00000072786						162	126	138					5																	171583763		2203	4300	6503	STK10	SO:0001819	synonymous_variant	0			-	HGNC	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.186T>C	5.37:g.171583763A>G		Somatic	0	33	0		0.553837475695234	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	4	71.43	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP							pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A62	ENST00000176763.5	37	c.186	CCDS34290.1	5																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	protein_coding	OTTHUMT00000372374.2	A	NM_005990	-		171583763	-1	no_errors	ENST00000176763	ensembl	human	known	74_37	silent	SNP	0.024	G	G	171583763	A	G	171583763	2	3	237	1	0	0	0	0	0	0	0	1	15293	175	7	5		5	STK10	5	171583763	Silent	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	73468317	171583763	9331497	26	19218											
SYCP2L	221711	genome.wustl.edu	37	chr6	10961632	10961632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaacaccttgagaaggagGttctggtaagttctttttgt	12	5	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr6:10961632G>T	ENST00000283141.6	+	27	2646	c.2350G>T	c.(2350-2352)Gtt>Ttt	p.V784F		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	784						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGAGAAGGAGGTTCTGGTAAG	0.383																																																	0								ENSG00000153157						119	110	113					6																	10961632		1848	4100	5948	SYCP2L	SO:0001583	missense	0			-	HGNC	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2350G>T	6.37:g.10961632G>T	ENSP00000283141:p.Val784Phe	Somatic	1	106	0.93		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	17	67.31	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP							NULL	p.V784F	ENST00000283141.6	37	c.2350	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904505	0.33628	.	.	ENSG00000153157	ENST00000283141	T	0.18174	2.23	5.49	2.72	0.32119	.	0.823632	0.10734	N	0.640271	T	0.10937	0.0267	L	0.41236	1.265	0.09310	N	1	P	0.52061	0.95	P	0.53006	0.715	T	0.14476	-1.0471	10	0.66056	D	0.02	-1.8676	7.1043	0.25354	0.262:0.0:0.738:0.0	.	784	Q5T4T6	SYC2L_HUMAN	F	784	ENSP00000283141:V784F	ENSP00000283141:V784F	V	+	1	0	SYCP2L	11069618	0.000000	0.05858	0.029000	0.17559	0.098000	0.18820	0.297000	0.19101	1.309000	0.44985	0.655000	0.94253	GTT	-	NULL		0.383	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	protein_coding	OTTHUMT00000039845.3	G	NM_194299	-		10961632	1	no_errors	ENST00000283141	ensembl	human	known	74_37	missense	SNP	0.001	T	T	10961632	G	T	10961632	3	4	237	1	0	0	0	0	1	0	0	0	15440	1261	44	3	2456	3	SYCP2L	6	10961632	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		10961632	160153435	27	19219											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33410801	33410801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatactgcacgagcagCtcggacatcacagagccaga	10	14	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr6:33410801C>T	ENST00000418600.2	+	15	2573	c.2472C>T	c.(2470-2472)agC>agT	p.S824S	SYNGAP1_ENST00000293748.5_Silent_p.S824S|SYNGAP1_ENST00000428982.2_Silent_p.S765S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	824					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						GCACGAGCAGCTCGGACATCA	0.582																																																	0								ENSG00000197283						110	94	99					6																	33410801		2203	4300	6503	SYNGAP1	SO:0001819	synonymous_variant	0			-	HGNC	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.2472C>T	6.37:g.33410801C>T		Somatic	0	39	0		0.553837475695234	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP							pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.S824	ENST00000418600.2	37	c.2472	CCDS34434.2	6																																																																																			-	pfam_DUF3498		0.582	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407	-		33410801	1	no_errors	ENST00000418600	ensembl	human	known	74_37	silent	SNP	1.000	T	T	33410801	C	T	33410801	2	4	237	1	0	0	0	0	0	0	0	1	15454	796	28	2		2	SYNGAP1	6	33410801	Silent	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	22449169	33410801	137704266	28	19220											
DNAH8	1769	genome.wustl.edu	37	chr6	38738286	38738286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttttgaggtttcagAaatgtatatatttggaaaat	7	2	2	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr6:38738286A>G	ENST00000359357.3	+	10	1318	c.1064A>G	c.(1063-1065)gAa>gGa	p.E355G	DNAH8_ENST00000449981.2_Missense_Mutation_p.E572G|DNAH8_ENST00000441566.1_Missense_Mutation_p.E355G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	355					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGGTTTCAGAAATGTATATA	0.368																																																	0								ENSG00000124721						39	40	40					6																	38738286		2203	4299	6502	DNAH8	SO:0001583	missense	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1064A>G	6.37:g.38738286A>G	ENSP00000352312:p.Glu355Gly	Somatic	0	84	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.30	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E355G	ENST00000359357.3	37	c.1064		6	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435116	0.83885	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.58060	0.36;0.36;0.36	5.45	5.45	0.79879	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	M	0.87097	2.86	0.58432	D	0.999999	D	0.69078	0.997	D	0.71414	0.973	T	0.75456	-0.3311	10	0.59425	D	0.04	.	14.0421	0.64681	1.0:0.0:0.0:0.0	.	355	Q96JB1	DYH8_HUMAN	G	560;560;355;355	ENSP00000333363:E560G;ENSP00000352312:E355G;ENSP00000402294:E355G	ENSP00000333363:E560G	E	+	2	0	DNAH8	38846264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.201000	0.70794	0.523000	0.50628	GAA	-	pfam_Dynein_heavy_dom-1		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	A	NM_001206927	-		38738286	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	SNP	1.000	G	G	38738286	A	G	38738286	3	3	237	1	0	0	0	0	1	0	0	0	4609	246	9	5	1094	5	DNAH8	6	38738286	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	5327485	38738286	132376781	29	19221											
MUT	4594	genome.wustl.edu	37	chr6	49419297	49419297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatttgtgtgttcctgGcaattcgagcacttttcaca	9	8	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr6:49419297G>A	ENST00000274813.3	-	6	1341	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	405					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGTTCCTGGCAATTCGAGC	0.423																																																	0								ENSG00000146085						151	130	138					6																	49419297		2203	4300	6503	MUT	SO:0001583	missense	0			-	HGNC		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1214C>T	6.37:g.49419297G>A	ENSP00000274813:p.Ala405Val	Somatic	0	101	0		0.553837475695234	35	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP							pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.A405V	ENST00000274813.3	37	c.1214	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.329067	0.95733	.	.	ENSG00000146085	ENST00000274813	D	0.99418	-5.87	5.49	5.49	0.81192	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (2);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96526	0.9389	10	0.87932	D	0	-8.66	18.3589	0.90368	0.0:0.0:1.0:0.0	.	405	P22033	MUTA_HUMAN	V	405	ENSP00000274813:A405V	ENSP00000274813:A405V	A	-	2	0	MUT	49527256	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.571000	0.86741	0.467000	0.42956	GCC	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat		0.423	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	protein_coding	OTTHUMT00000040854.1	G		-		49419297	-1	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49419297	G	A	49419297	3	1	237	1	0	0	0	0	1	0	0	0	9993	1203	42	2	1070	2	MUT	6	49419297	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	10681011	49419297	121695770	30	19222											
CNR1	1268	genome.wustl.edu	37	chr6	88853662	88853662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcagctttctgcggcCctgtgaacactggctgcatt	11	11	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr6:88853662C>A	ENST00000537554.1	-	2	4894	c.1332G>T	c.(1330-1332)agG>agT	p.R444S	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.R444S|CNR1_ENST00000369501.2_Missense_Mutation_p.R444S|CNR1_ENST00000535130.1_Missense_Mutation_p.R444S|CNR1_ENST00000468898.1_Missense_Mutation_p.R411S|CNR1_ENST00000428600.2_Missense_Mutation_p.R444S|CNR1_ENST00000549890.1_Missense_Mutation_p.R444S|CNR1_ENST00000549716.1_Missense_Mutation_p.R383S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	444					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTTCTGCGGCCCTGTGAACAC	0.562																																																	0								ENSG00000118432						218	196	203					6																	88853662		2203	4300	6503	CNR1	SO:0001583	missense	0			-	HGNC	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1332G>T	6.37:g.88853662C>A	ENSP00000441046:p.Arg444Ser	Somatic	0	48	0		0.553837475695234	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.R444S	ENST00000537554.1	37	c.1332	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	C	5.555	0.287344	0.10513	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.75938	-0.93;-0.93;-0.93;-0.93;-0.93;-0.98;-0.93;-0.86	5.94	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.27053	0.805	0.80722	D	1	B;B	0.30634	0.288;0.099	B;B	0.26969	0.075;0.025	T	0.15780	-1.0425	10	0.12766	T	0.61	.	6.5034	0.22182	0.0:0.6643:0.131:0.2046	.	411;444	P21554-3;P21554	.;CNR1_HUMAN	S	444;444;444;444;444;411;444;383	ENSP00000358513:R444S;ENSP00000442689:R444S;ENSP00000441046:R444S;ENSP00000358511:R444S;ENSP00000446819:R444S;ENSP00000420188:R411S;ENSP00000412192:R444S;ENSP00000449549:R383S	ENSP00000358511:R444S	R	-	3	2	CNR1	88910381	1.000000	0.71417	0.998000	0.56505	0.052000	0.14988	1.592000	0.36676	0.411000	0.25702	-0.175000	0.13238	AGG	-	pirsf_Canbinoid_rcpt_1,prints_Canbinoid_rcpt_1		0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	protein_coding	OTTHUMT00000354204.2	C		-		88853662	-1	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	SNP	1.000	A	A	88853662	C	A	88853662	3	1	237	1	0	0	0	0	1	0	0	0	3633	622	22	3	90	3	CNR1	6	88853662	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	39434365	88853662	82261405	31	19223											
MFHAS1	9258	genome.wustl.edu	37	chr8	8750390	8750390	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatgtccccgaggttgGccggcagcacgagctggggg	16	13	1	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr8:8750390G>C	ENST00000276282.6	-	1	765	c.179C>G	c.(178-180)gCc>gGc	p.A60G	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	60										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCCGAGGTTGGCCGGCAGCAC	0.746																																					Melanoma(103;1201 2045 17515 28966)												0								ENSG00000147324						9	11	10					8																	8750390		2172	4261	6433	MFHAS1	SO:0001583	missense	0			-	HGNC	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.179C>G	8.37:g.8750390G>C	ENSP00000276282:p.Ala60Gly	Somatic	0	113	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	76	31.25	Q96CI0	Missense_Mutation	SNP							pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp	p.A60G	ENST00000276282.6	37	c.179	CCDS34844.1	8	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928839	0.73327	.	.	ENSG00000147324	ENST00000276282	T	0.24723	1.84	4.54	3.62	0.41486	.	0.395788	0.21265	N	0.077412	T	0.14614	0.0353	N	0.14661	0.345	0.33699	D	0.614353	B	0.22276	0.067	B	0.17098	0.017	T	0.14035	-1.0487	10	0.30078	T	0.28	.	11.6332	0.51187	0.0:0.0:0.822:0.178	.	60	Q9Y4C4	MFHA1_HUMAN	G	60	ENSP00000276282:A60G	ENSP00000276282:A60G	A	-	2	0	MFHAS1	8787800	0.993000	0.37304	0.998000	0.56505	0.954000	0.61252	1.912000	0.39946	2.051000	0.60960	0.563000	0.77884	GCC	-	NULL		0.746	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	protein_coding	OTTHUMT00000374724.2	G	NM_004225	-		8750390	-1	no_errors	ENST00000276282	ensembl	human	known	74_37	missense	SNP	1.000	C	C	8750390	G	C	8750390	3	2	237	1	0	0	0	0	1	0	0	0	9523	1203	42	4	2991	4	MFHAS1	8	8750390	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		8750390	137613632	32	19224											
COL22A1	169044	genome.wustl.edu	37	chr8	139767724	139767724	+	Splice_Site	DEL	C	C	-													gaagacgcgtgtgcctcttaCctgttcccctttcaagccct							TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr8:139767724delC	ENST00000303045.6	-	20	2424		c.e20+1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						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)			GTGCCTCTTACCTGTTCCCCT	0.507										HNSCC(7;0.00092)																																							0								ENSG00000169436						350	305	320					8																	139767724		2203	4300	6503	COL22A1	SO:0001630	splice_region_variant	0				HGNC	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.1977+1G>-	8.37:g.139767724delC		Somatic	0	89	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	56	25.33	B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	DEL							-	e19+1	ENST00000303045.6	37	c.1977+1	CCDS6376.1	8																																																																																			-	-		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	C	XM_291257		Intron	139767724	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	139767724	C	-	139767724	8	5	237	1	0	1	0	1	0	0	1	0	3683	521	18	0	3086	0	COL22A1	8	139767724	Splice_Site	DEL	C	TCGA-X6-A8C5-01A-11D-A36J-09	131017334	139767724	6596298	33	19225											
C9orf3	84909	genome.wustl.edu	37	chr9	97522564	97522564	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgttgctgctgtgccaggtCtggaaaaatttacaaggtct	11	7	2	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr9:97522564C>T	ENST00000375315.2	+	1	499	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	C9orf3_ENST00000297979.5_Silent_p.L167L|C9orf3_ENST00000277198.2_Silent_p.L167L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	167					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGTGCCAGGTCTGGAAAAATT	0.458																																																	0								ENSG00000148120						138	136	137					9																	97522564		2203	4300	6503	C9orf3	SO:0001819	synonymous_variant	0			-	HGNC	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.499C>T	9.37:g.97522564C>T		Somatic	0	73	0		0.553837475695234	2	71.43	5	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	32	43.86	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP							pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.L167	ENST00000375315.2	37	c.499	CCDS55328.1	9																																																																																			-	NULL		0.458	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	protein_coding		C	NM_032823	-		97522564	1	no_errors	ENST00000375315	ensembl	human	known	74_37	silent	SNP	0.998	T	T	97522564	C	T	97522564	2	4	237	1	0	0	0	0	0	0	0	1	2479	912	32	2		2	C9orf3	9	97522564	Silent	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09		97522564	43690867	34	19226											
AKNA	80709	genome.wustl.edu	37	chr9	117122049	117122049	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcctccattctcatggcttCtgggagagacttcacactga	8	13	3	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr9:117122049C>G	ENST00000307564.4	-	11	2478	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	AKNA_ENST00000374088.3_Missense_Mutation_p.E773Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E692Q|AKNA_ENST00000223791.3_Missense_Mutation_p.E233Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E773Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	773	PEST.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCATGGCTTCTGGGAGAGAC	0.592																																																	0								ENSG00000106948						37	35	36					9																	117122049		2203	4300	6503	AKNA	SO:0001583	missense	0			-	HGNC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2317G>C	9.37:g.117122049C>G	ENSP00000303769:p.Glu773Gln	Somatic	0	36	0		0.553837475695234	31	16.22	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP							pfam_TF_AT-hook	p.E773Q	ENST00000307564.4	37	c.2317	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	c	12.22	1.871551	0.33069	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.38240	2.39;2.39;2.18;2.4;1.15	3.85	2.95	0.34219	.	0.377610	0.22835	N	0.055056	T	0.38799	0.1054	L	0.34521	1.04	0.50171	D	0.999852	D;D	0.61697	0.984;0.99	P;P	0.58266	0.69;0.836	T	0.20009	-1.0288	10	0.62326	D	0.03	-11.416	7.2542	0.26166	0.0:0.8818:0.0:0.1182	.	773;692	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	773;614;773;233;692;773	ENSP00000303769:E773Q;ENSP00000363201:E773Q;ENSP00000223791:E233Q;ENSP00000363188:E692Q;ENSP00000309222:E773Q	ENSP00000223791:E233Q	E	-	1	0	AKNA	116161870	0.914000	0.31030	0.653000	0.29593	0.118000	0.20060	1.705000	0.37867	1.213000	0.43380	0.450000	0.29827	GAA	-	NULL		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	protein_coding	OTTHUMT00000053767.2	C	NM_030767	-		117122049	-1	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	SNP	0.706	G	G	117122049	C	G	117122049	3	3	237	1	0	0	0	0	1	0	0	0	463	922	32	4	2050	4	AKNA	9	117122049	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	19599485	117122049	24091382	35	19227											
TLR4	7099	genome.wustl.edu	37	chr9	120466787	120466787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggctgggactctgatcCcagccatggccttcctctcc	10	17	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr9:120466787C>A	ENST00000355622.6	+	1	138	c.37C>A	c.(37-39)Cca>Aca	p.P13T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	13					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)	GACTCTGATCCCAGCCATGGC	0.592																																																	0								ENSG00000136869						63	62	62					9																	120466787		2203	4300	6503	TLR4	SO:0001583	missense	0			-	HGNC	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.37C>A	9.37:g.120466787C>A	ENSP00000363089:p.Pro13Thr	Somatic	0	19	0		0.553837475695234	4	20	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP							pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.P13T	ENST00000355622.6	37	c.37	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498943	0.44455	.	.	ENSG00000136869	ENST00000355622	T	0.36699	1.24	5.42	-0.378	0.12497	.	1.122620	0.06652	N	0.762877	T	0.19886	0.0478	L	0.29908	0.895	0.18873	N	0.999988	P	0.44627	0.839	B	0.33454	0.164	T	0.20472	-1.0274	10	0.40728	T	0.16	.	4.3046	0.10940	0.49:0.3282:0.0:0.1818	.	13	O00206	TLR4_HUMAN	T	13	ENSP00000363089:P13T	ENSP00000363089:P13T	P	+	1	0	TLR4	119506608	0.025000	0.19082	0.967000	0.41034	0.809000	0.45718	0.006000	0.13152	0.237000	0.21200	0.557000	0.71058	CCA	-	pirsf_Toll-like_receptor		0.592	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	protein_coding	OTTHUMT00000055549.3	C	NM_138554	-		120466787	1	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	SNP	0.720	A	A	120466787	C	A	120466787	3	1	237	1	0	0	0	0	1	0	0	0	15960	623	22	3	39	3	TLR4	9	120466787	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	3344738	120466787	20746644	36	19228											
SPTAN1	6709	genome.wustl.edu	37	chr9	131378035	131378035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagatcaagagcatggCggcctcccggcgagccaagc	13	14	1	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr9:131378035C>T	ENST00000372731.4	+	40	5368	c.5258C>T	c.(5257-5259)gCg>gTg	p.A1753V	SPTAN1_ENST00000358161.5_Missense_Mutation_p.A1758V|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1758V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1753					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGAGCATGGCGGCCTCCCGG	0.572																																					NSCLC(120;833 1744 2558 35612 37579)												0								ENSG00000197694						82	74	77					9																	131378035		2203	4300	6503	SPTAN1	SO:0001583	missense	0			-	HGNC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5258C>T	9.37:g.131378035C>T	ENSP00000361816:p.Ala1753Val	Somatic	0	49	0		0.553837475695234	155	43.97	124	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP							pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A1758V	ENST00000372731.4	37	c.5273	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831452	0.91036	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.51574	0.7;0.7;0.7	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.78314	0.883;0.985;0.991	T	0.74624	-0.3603	10	0.66056	D	0.02	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	1733;1758;1753	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	V	1758;1753;1758;1733;2	ENSP00000350882:A1758V;ENSP00000361816:A1753V;ENSP00000361824:A1758V	ENSP00000350882:A1758V	A	+	2	0	SPTAN1	130417856	1.000000	0.71417	0.964000	0.40570	0.957000	0.61999	7.429000	0.80309	2.709000	0.92574	0.655000	0.94253	GCG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	protein_coding	OTTHUMT00000054472.1	C	NM_003127	-		131378035	1	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	SNP	1.000	T	T	131378035	C	T	131378035	3	4	237	1	0	0	0	0	1	0	0	0	15124	768	27	1	5431	1	SPTAN1	9	131378035	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	10911248	131378035	9835396	37	19229											
C10orf12	26148	genome.wustl.edu	37	chr10	98741336	98741336	+	Frame_Shift_Del	DEL	A	A	-													gagaatactttacagtgtccAaaaacacctttgcgccagga							TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr10:98741336delA	ENST00000286067.2	+	1	296	c.189delA	c.(187-189)ccafs	p.P63fs		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	63										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TACAGTGTCCAAAAACACCTT	0.418																																																	0								ENSG00000155640						80	76	77					10																	98741336		2203	4300	6503	C10orf12	SO:0001589	frameshift_variant	0				HGNC	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.189delA	10.37:g.98741336delA	ENSP00000286067:p.Pro63fs	Somatic	0	28	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q9H945|Q9Y457	Frame_Shift_Del	DEL							NULL	p.T65fs	ENST00000286067.2	37	c.189	CCDS7452.1	10																																																																																			-	NULL		0.418	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	protein_coding	OTTHUMT00000049627.1	A	NM_015652			98741336	1	no_errors	ENST00000286067	ensembl	human	known	74_37	frame_shift_del	DEL	0.992	-	-	98741336	A	-	98741336	7	5	237	1	0	1	0	1	0	0	0	0	1591	117	5	0	191	0	C10orf12	10	98741336	Frame_Shift_Del	DEL	A	TCGA-X6-A8C5-01A-11D-A36J-09		98741336	36793411	38	19230											
LDB1	8861	genome.wustl.edu	37	chr10	103871022	103871022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccacttacccaatccctGgctccaggtatgtaggcgga	9	14	0	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr10:103871022G>T	ENST00000425280.1	-	3	506	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	LDB1_ENST00000361198.5_Missense_Mutation_p.P19Q|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	55					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCCAATCCCTGGCTCCAGGTA	0.572																																																	0								ENSG00000198728						97	98	98					10																	103871022		2203	4300	6503	LDB1	SO:0001583	missense	0			-	HGNC	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.164C>A	10.37:g.103871022G>T	ENSP00000392466:p.Pro55Gln	Somatic	0	80	0		0.553837475695234	82	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP							NULL	p.P55Q	ENST00000425280.1	37	c.164	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304871	0.60305	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.73	4.82	0.62117	.	0.050753	0.85682	D	0.000000	T	0.42966	0.1226	L	0.32530	0.975	0.58432	D	0.999999	P;B	0.48911	0.917;0.025	B;B	0.40329	0.326;0.06	T	0.29397	-1.0013	9	0.29301	T	0.29	-9.6987	16.4634	0.84071	0.0:0.1314:0.8686:0.0	.	55;19	Q86U70;Q86U70-3	LDB1_HUMAN;.	Q	19;55	.	ENSP00000354616:P19Q	P	-	2	0	LDB1	103861012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.300000	0.96151	1.425000	0.47237	0.561000	0.74099	CCA	-	NULL		0.572	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	protein_coding		G	NM_001113407	-		103871022	-1	no_errors	ENST00000425280	ensembl	human	known	74_37	missense	SNP	1.000	T	T	103871022	G	T	103871022	3	4	237	1	0	0	0	0	1	0	0	0	8697	1348	47	3	1107	3	LDB1	10	103871022	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	5129686	103871022	31663725	39	19231											
TIAL1	7073	genome.wustl.edu	37	chr10	121341975	121341975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctattatcttacctttCccaaaatttttctcccattc	0	14	2	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr10:121341975C>T	ENST00000436547.2	-	3	268	c.224G>A	c.(223-225)gGa>gAa	p.G75E	TIAL1_ENST00000369093.2_Missense_Mutation_p.G92E|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	75	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCTTACCTTTCCCAAAATTTT	0.368																																																	0								ENSG00000151923						133	146	141					10																	121341975		2202	4298	6500	TIAL1	SO:0001583	missense	0			-	HGNC	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"RNA binding motif (RRM) containing"	11804	protein-coding gene	gene with protein product		603413	"TIA1 cytotoxic granule-associated RNA-binding protein-like 1"			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.224G>A	10.37:g.121341975C>T	ENSP00000394902:p.Gly75Glu	Somatic	0	39	0		0.553837475695234	60	10.45	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A8K3T0|A8K4L9	Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G92E	ENST00000436547.2	37	c.275	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512942	0.85389	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.54866	2.65;0.55;2.65;2.65	6.02	6.02	0.97574	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.66560	2.04	0.80722	D	1	B;D	0.76494	0.278;0.999	B;D	0.77557	0.413;0.99	T	0.69154	-0.5220	10	0.44086	T	0.13	-16.0465	20.5373	0.99239	0.0:1.0:0.0:0.0	.	92;75	A8K4L9;Q01085	.;TIAR_HUMAN	E	92;75;36;36	ENSP00000358089:G92E;ENSP00000394902:G75E;ENSP00000403573:G36E;ENSP00000358082:G36E	ENSP00000358082:G36E	G	-	2	0	TIAL1	121331965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.656000	0.83736	2.857000	0.98124	0.650000	0.86243	GGA	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.368	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	protein_coding	OTTHUMT00000050672.2	C	NM_022333, NM_003252	-		121341975	-1	no_errors	ENST00000369093	ensembl	human	known	74_37	missense	SNP	1.000	T	T	121341975	C	T	121341975	3	4	237	1	0	0	0	0	1	0	0	0	15896	855	30	2	943	2	TIAL1	10	121341975	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	17470953	121341975	14192772	40	19232											
ARMS2	387715	genome.wustl.edu	37	chr10	124214445	124214445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcacactccatgatcccaGctgctaaaatccacactgag	5	14	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr10:124214445G>T	ENST00000528446.1	+	1	277	c.202G>T	c.(202-204)Gct>Tct	p.A68S		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	68					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATGATCCCAGCTGCTAAAAT	0.542																																																	0								ENSG00000254636						101	99	100					10																	124214445		2012	4187	6199	ARMS2	SO:0001583	missense	0			-	HGNC	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.202G>T	10.37:g.124214445G>T	ENSP00000436682:p.Ala68Ser	Somatic	0	44	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	B2Y7I5	Missense_Mutation	SNP							NULL	p.A68S	ENST00000528446.1	37	c.202	CCDS53585.1	10	.	.	.	.	.	.	.	.	.	.	G	9.713	1.157638	0.21454	.	.	ENSG00000254636	ENST00000528446	T	0.38401	1.14	1.79	1.79	0.24919	.	.	.	.	.	T	0.27241	0.0668	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	P	0.51945	0.685	T	0.09314	-1.0680	9	0.87932	D	0	.	7.0623	0.25133	0.0:0.0:1.0:0.0	.	68	P0C7Q2	ARMS2_HUMAN	S	68	ENSP00000436682:A68S	ENSP00000436682:A68S	A	+	1	0	ARMS2	124204435	0.001000	0.12720	0.003000	0.11579	0.069000	0.16628	0.602000	0.24134	1.323000	0.45263	0.491000	0.48974	GCT	-	NULL		0.542	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMS2	protein_coding	OTTHUMT00000109727.2	G		-		124214445	1	no_errors	ENST00000528446	ensembl	human	known	74_37	missense	SNP	0.003	T	T	124214445	G	T	124214445	3	4	237	1	0	0	0	0	1	0	0	0	964	971	34	3	204	3	ARMS2	10	124214445	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	2872470	124214445	11320302	41	19233											
BRSK2	9024	genome.wustl.edu	37	chr11	1467009	1467009	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctccccggaagcgtgtggaCtccccgatgctgaaccggca	12	16	0	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr11:1467009C>G	ENST00000528841.1	+	12	1482	c.1098C>G	c.(1096-1098)gaC>gaG	p.D366E	BRSK2_ENST00000526678.1_Missense_Mutation_p.D366E|BRSK2_ENST00000308219.9_Missense_Mutation_p.D366E|BRSK2_ENST00000544817.1_Missense_Mutation_p.D61E|BRSK2_ENST00000382179.1_Missense_Mutation_p.D412E|BRSK2_ENST00000308230.5_Missense_Mutation_p.D366E|BRSK2_ENST00000531197.1_Missense_Mutation_p.D366E|BRSK2_ENST00000528710.1_Missense_Mutation_p.D306E			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	366					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGCGTGTGGACTCCCCGATGC	0.716																																																	0								ENSG00000174672						37	48	44					11																	1467009		2127	4251	6378	BRSK2	SO:0001583	missense	0			-	HGNC	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1098C>G	11.37:g.1467009C>G	ENSP00000432000:p.Asp366Glu	Somatic	0	85	0		0.553837475695234	3	40	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	79	35.25	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D412E	ENST00000528841.1	37	c.1236	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498469	0.85069	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.73152	-0.7;-0.69;-0.7;-0.72;-0.7;1.91;-0.55;-0.42	4.18	3.25	0.37280	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	D	0.82719	0.5098	M	0.84326	2.69	0.50313	D	0.999867	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.99;0.999;0.999;1.0	T	0.83078	-0.0139	10	0.59425	D	0.04	.	9.8543	0.41077	0.0:0.8291:0.0:0.1709	.	366;412;366;366;366	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	E	366;366;366;366;366;306;412;61	ENSP00000310697:D366E;ENSP00000431152:D366E;ENSP00000310805:D366E;ENSP00000432000:D366E;ENSP00000433370:D366E;ENSP00000433235:D306E;ENSP00000371614:D412E;ENSP00000445168:D61E	ENSP00000310697:D366E	D	+	3	2	BRSK2	1423585	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.707000	0.54838	0.956000	0.37904	0.462000	0.41574	GAC	-	superfamily_Kinase-like_dom		0.716	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	protein_coding	OTTHUMT00000393033.1	C	NM_003957	-		1467009	1	no_errors	ENST00000382179	ensembl	human	known	74_37	missense	SNP	1.000	G	G	1467009	C	G	1467009	3	3	237	1	0	0	0	0	1	0	0	0	1526	564	20	4	1144	4	BRSK2	11	1467009	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09		1467009	133539507	42	19234											
KRTAP5-1	387264	genome.wustl.edu	37	chr11	1606345	1606345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcttgcagcagcagacGggcacacagcagctggagcc	15	13	0	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr11:1606345G>A	ENST00000382171.2	-	1	168	c.135C>T	c.(133-135)ccC>ccT	p.P45P	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	45	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.P45P(1)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAGCAGACGGGCACACAGC	0.687																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000205869						70	83	79					11																	1606345		2202	4298	6500	KRTAP5-1	SO:0001819	synonymous_variant	0			-	HGNC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.135C>T	11.37:g.1606345G>A		Somatic	1	124	0.8		0.553837475695234	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	75	10.71		Silent	SNP							NULL	p.P45	ENST00000382171.2	37	c.135	CCDS31330.1	11																																																																																			-	NULL		0.687	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	protein_coding	OTTHUMT00000127922.1	G	NM_001005922	-		1606345	-1	no_errors	ENST00000382171	ensembl	human	known	74_37	silent	SNP	0.012	A	A	1606345	G	A	1606345	2	1	237	1	0	0	0	0	0	0	0	1	8560	1103	39	1		1	KRTAP5-1	11	1606345	Silent	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	139336	1606345	133400171	43	19235											
UBQLNL	143630	genome.wustl.edu	37	chr11	5537632	5537632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgatggacatccacTctgggacatcctggatgttc	10	12	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr11:5537632T>C	ENST00000380184.1	-	1	303	c.40A>G	c.(40-42)Agt>Ggt	p.S14G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	14										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGACATCCACTCTGGGACATC	0.532																																																	0								ENSG00000175518						78	77	78					11																	5537632		2201	4297	6498	UBQLNL	SO:0001583	missense	0			-	HGNC	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.40A>G	11.37:g.5537632T>C	ENSP00000369531:p.Ser14Gly	Somatic	0	49	0		0.553837475695234	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP							pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.S14G	ENST00000380184.1	37	c.40	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	T	3.786	-0.044715	0.07452	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.40476	1.03	4.94	1.05	0.20165	.	0.608853	0.15582	N	0.254825	T	0.27134	0.0665	L	0.42245	1.32	0.09310	N	1	B	0.33694	0.421	B	0.30646	0.118	T	0.13764	-1.0497	10	0.21014	T	0.42	.	4.8849	0.13697	0.3303:0.0:0.1716:0.4981	.	14	Q8IYU4	UBQLN_HUMAN	G	14	ENSP00000369531:S14G	ENSP00000369531:S14G	S	-	1	0	UBQLNL	5494208	0.008000	0.16893	0.022000	0.16811	0.023000	0.10783	-0.256000	0.08757	0.004000	0.14682	0.528000	0.53228	AGT	-	NULL		0.532	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	protein_coding	OTTHUMT00000143386.1	T	NM_145053	-		5537632	-1	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	SNP	0.138	C	C	5537632	T	C	5537632	3	2	237	1	0	0	0	0	1	0	0	0	16907	1551	54	5	1391	5	UBQLNL	11	5537632	Missense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	3931287	5537632	129468884	44	19236											
FNBP4	23360	genome.wustl.edu	37	chr11	47776104	47776104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagttggccaatgtactAtcaatatcagttgactggtt	10	6	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr11:47776104A>G	ENST00000263773.5	-	3	438	c.426T>C	c.(424-426)gaT>gaC	p.D142D	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	142						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCAATGTACTATCAATATCAG	0.423																																																	0								ENSG00000109920						272	267	268					11																	47776104		2030	4173	6203	FNBP4	SO:0001819	synonymous_variant	0			-	HGNC	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.426T>C	11.37:g.47776104A>G		Somatic	0	87	0		0.553837475695234	24	25	8	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	36	41.94	Q9H985|Q9NT81|Q9Y2L7	Silent	SNP							pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.D142	ENST00000263773.5	37	c.426	CCDS41644.1	11																																																																																			-	NULL		0.423	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	protein_coding	OTTHUMT00000390237.3	A		-		47776104	-1	no_errors	ENST00000263773	ensembl	human	known	74_37	silent	SNP	0.998	G	G	47776104	A	G	47776104	2	3	237	1	0	0	0	0	0	0	0	1	5969	446	16	5		5	FNBP4	11	47776104	Silent	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	42238472	47776104	87230412	45	19237											
CCDC87	55231	genome.wustl.edu	37	chr11	66358959	66358959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcaactaggggcccttgatCaaaatgtaagtggtcagaag	11	8	3	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr11:66358959C>G	ENST00000333861.3	-	1	1595	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	510					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGCCCTTGATCAAAATGTAAG	0.453																																																	0								ENSG00000182791						94	96	95					11																	66358959		2200	4295	6495	CCDC87	SO:0001583	missense	0			-	HGNC	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1528G>C	11.37:g.66358959C>G	ENSP00000328487:p.Asp510His	Somatic	0	96	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	46	36.99	Q8NE76	Missense_Mutation	SNP							pfam_MAP65_Ase1_PRC1	p.D510H	ENST00000333861.3	37	c.1528	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641435	0.29157	.	.	ENSG00000182791	ENST00000333861	T	0.47528	0.84	5.3	4.39	0.52855	.	0.306069	0.23164	N	0.051208	T	0.59074	0.2167	M	0.66939	2.045	0.21064	N	0.999793	D	0.65815	0.995	P	0.57960	0.83	T	0.53844	-0.8381	10	0.72032	D	0.01	.	9.7672	0.40567	0.0:0.9077:0.0:0.0923	.	510	Q9NVE4	CCD87_HUMAN	H	510	ENSP00000328487:D510H	ENSP00000328487:D510H	D	-	1	0	CCDC87	66115535	0.999000	0.42202	0.090000	0.20809	0.053000	0.15095	2.526000	0.45607	1.478000	0.48253	0.563000	0.77884	GAT	-	NULL		0.453	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	protein_coding	OTTHUMT00000393825.1	C	NM_018219	-		66358959	-1	no_errors	ENST00000333861	ensembl	human	known	74_37	missense	SNP	0.358	G	G	66358959	C	G	66358959	3	3	237	1	0	0	0	0	1	0	0	0	2864	826	29	4	1025	4	CCDC87	11	66358959	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	18582855	66358959	68647557	46	19238											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43826172	43826172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattctctctcgtcactcGggacagttcttggcattcat	8	12	5	0	rs200767698		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr12:43826172G>A	ENST00000389420.3	-	21	3030	c.3031C>T	c.(3031-3033)Cga>Tga	p.R1011*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.R165*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R1011*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1011	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1011R(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCGTCACTCGGGACAGTTCT	0.443																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000173157	G	stop/ARG	0,4406		0,0,2203	121	116	118		3031	4.1	0.1	12		118	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ADAMTS20	NM_025003.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1011/1911	43826172	1,13005	2203	4300	6503	ADAMTS20	SO:0001587	stop_gained	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3031C>T	12.37:g.43826172G>A	ENSP00000374071:p.Arg1011*	Somatic	0	50	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	43	27.12	A6NNC9|J3QT00	Nonsense_Mutation	SNP							pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1011*	ENST00000389420.3	37	c.3031	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	40	8.237412	0.98719	0.0	1.16E-4	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	5.04	4.07	0.47477	.	0.303544	0.22113	N	0.064444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	11.0308	0.47772	0.0:0.0:0.6377:0.3623	.	.	.	.	X	1011;177;165;1011;1011	.	ENSP00000374068:R1011X	R	-	1	2	ADAMTS20	42112439	0.096000	0.21769	0.067000	0.19924	0.892000	0.51952	2.439000	0.44846	2.706000	0.92434	0.655000	0.94253	CGA	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.443	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	G	NM_025003	rs200767698		43826172	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	nonsense	SNP	0.669	A	A	43826172	G	A	43826172	4	1	237	1	0	0	0	0	0	1	0	0	266	1124	39	1	2776	1	ADAMTS20	12	43826172	Nonsense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		43826172	90025723	47	19239											
OR6C2	341416	genome.wustl.edu	37	chr12	55846256	55846256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtacaatatatcaatggggGacaataccattacctacaat	6	8	1	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr12:55846256G>T	ENST00000322678.1	+	1	259	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	87					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATCAATGGGGGACAATACCAT	0.368																																																	0								ENSG00000179695						141	142	142					12																	55846256		2203	4299	6502	OR6C2	SO:0001583	missense	0			-	HGNC	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.259G>T	12.37:g.55846256G>T	ENSP00000323606:p.Asp87Tyr	Somatic	0	74	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	45	32.84		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D87Y	ENST00000322678.1	37	c.259	CCDS31824.1	12	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275717	0.40294	.	.	ENSG00000179695	ENST00000322678	T	0.02974	4.09	5.42	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.193967	0.35646	N	0.003069	T	0.09468	0.0233	M	0.64567	1.98	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.08207	-1.0733	10	0.72032	D	0.01	.	5.6019	0.17359	0.0753:0.1395:0.6407:0.1445	.	87	Q9NZP2	OR6C2_HUMAN	Y	87	ENSP00000323606:D87Y	ENSP00000323606:D87Y	D	+	1	0	OR6C2	54132523	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	-0.991000	0.03728	0.865000	0.35603	-0.175000	0.13238	GAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.368	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	protein_coding	OTTHUMT00000406676.1	G	NM_054105	-		55846256	1	no_errors	ENST00000322678	ensembl	human	known	74_37	missense	SNP	0.005	T	T	55846256	G	T	55846256	3	4	237	1	0	0	0	0	1	0	0	0	11193	1174	41	3	261	3	OR6C2	12	55846256	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	12020084	55846256	78005639	48	19240											
SYCP3	50511	genome.wustl.edu	37	chr12	102122900	102122901	+	Frame_Shift_Ins	INS	-	-	T													acttacagtttccatcataaINStttttttttgcaacatagcc							TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr12:102122900_102122901insT	ENST00000392927.3	-	8	774_775	c.643_644insA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000392924.1_Frame_Shift_Ins_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Ins_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCCATCATAATTTTTTTTTGC	0.257																																																	0			GRCh37	CD035010	SYCP3	D		ENSG00000139351																																			SYCP3	SO:0001589	frameshift_variant	0				HGNC	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.644dupA	12.37:g.102122909_102122909dupT	ENSP00000376658:p.Ile215fs	Somatic	0	32	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57		Frame_Shift_Ins	INS							pfam_Cor1/Xlr/Xmr	p.I215fs	ENST00000392927.3	37	c.644_643	CCDS9087.1	12																																																																																			-	NULL		0.257	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	protein_coding	OTTHUMT00000316478.2	-	NM_153694			102122901	-1	no_errors	ENST00000266743	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:0.988	T	T	102122901	-	T	102122900	7	5	237	1	0	1	1	0	0	0	0	0	15441	101	4	0	74	0	SYCP3	12	102122900	Frame_Shift_Ins	INS	-	TCGA-X6-A8C5-01A-11D-A36J-09	46276644	102122900	31728995	49	19241											
NCOR2	9612	genome.wustl.edu	37	chr12	124885127	124885127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggtgatgcggcctttgCgtcttccctggctgttggca	15	11	1	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr12:124885127C>T	ENST00000405201.1	-	15	1733	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	NCOR2_ENST00000404621.1_Missense_Mutation_p.R577H|NCOR2_ENST00000404121.2_Missense_Mutation_p.R148H|NCOR2_ENST00000429285.2_Missense_Mutation_p.R577H|NCOR2_ENST00000356219.3_Missense_Mutation_p.R578H|NCOR2_ENST00000397355.1_Missense_Mutation_p.R578H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	578					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGCCTTTGCGTCTTCCCTG	0.632																																																	0								ENSG00000196498						169	148	155					12																	124885127		1968	4163	6131	NCOR2	SO:0001583	missense	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1733G>A	12.37:g.124885127C>T	ENSP00000384018:p.Arg578His	Somatic	0	46	0		0.553837475695234	56	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP							pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R578H	ENST00000405201.1	37	c.1733	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338859	0.60963	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.60271	-0.7296	10	0.87932	D	0	-33.2244	18.5739	0.91147	0.0:1.0:0.0:0.0	.	577;578;578	C9J0Q5;C9J239;C9JFD3	.;.;.	H	578;577;578;578;578;148;577;578	ENSP00000384018:R578H;ENSP00000384202:R577H;ENSP00000348551:R578H;ENSP00000380513:R578H;ENSP00000385618:R148H;ENSP00000400281:R577H;ENSP00000402808:R578H	ENSP00000348551:R578H	R	-	2	0	NCOR2	123451080	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	7.286000	0.78671	2.382000	0.81193	0.491000	0.48974	CGC	-	NULL		0.632	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	C	NM_006312	-		124885127	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124885127	C	T	124885127	3	4	237	1	0	0	0	0	1	0	0	0	10238	768	27	1	5967	1	NCOR2	12	124885127	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	22762227	124885127	8966768	50	19242											
POLE	5426	genome.wustl.edu	37	chr12	133252732	133252732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttcatattctggcttggggGtgaactcaaaatcttcaata	8	8	5	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr12:133252732G>C	ENST00000320574.5	-	10	1011	c.968C>G	c.(967-969)aCc>aGc	p.T323S	POLE_ENST00000535270.1_Missense_Mutation_p.T296S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	323					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGCTTGGGGGTGAACTCAAA	0.468								DNA polymerases (catalytic subunits)																																									0								ENSG00000177084						93	95	95					12																	133252732		2203	4300	6503	POLE	SO:0001583	missense	0			-	HGNC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.968C>G	12.37:g.133252732G>C	ENSP00000322570:p.Thr323Ser	Somatic	0	67	0		0.553837475695234	2	50	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	36	35.71	Q13533|Q86VH9	Missense_Mutation	SNP							pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T323S	ENST00000320574.5	37	c.968	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002679	0.93227	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.81	5.81	0.92471	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.72982	0.979;0.951	T	0.01940	-1.1243	10	0.59425	D	0.04	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	296;323	F5H1D6;Q07864	.;DPOE1_HUMAN	S	323;334;296;103;258	ENSP00000322570:T323S;ENSP00000406383:T334S;ENSP00000445753:T296S;ENSP00000442519:T103S	ENSP00000322570:T323S	T	-	2	0	POLE	131762805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.762000	0.98944	2.738000	0.93877	0.655000	0.94253	ACC	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.468	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	protein_coding	OTTHUMT00000397689.2	G	NM_006231	-		133252732	-1	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	SNP	1.000	C	C	133252732	G	C	133252732	3	2	237	1	0	0	0	0	1	0	0	0	12198	1261	44	4	6052	4	POLE	12	133252732	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	8367605	133252732	599163	51	19243											
C13orf33	84935	genome.wustl.edu	37	chr13	31491582	31491582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgattataaagactacagGgaaactatattgagcaaacc	8	6	0	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr13:31491582G>T	ENST00000380482.4	+	2	646	c.321G>T	c.(319-321)agG>agT	p.R107S	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	107					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											AAGACTACAGGGAAACTATAT	0.348																																																	0								ENSG00000102802						140	137	138					13																	31491582		2203	4300	6503	MEDAG	SO:0001583	missense	0			-	HGNC	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.321G>T	13.37:g.31491582G>T	ENSP00000369849:p.Arg107Ser	Somatic	0	89	0		0.553837475695234	5	44.44	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	37.50	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP							NULL	p.R107S	ENST00000380482.4	37	c.321	CCDS9338.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.549304|3.549304	0.65311|0.65311	.|.	.|.	ENSG00000102802|ENSG00000102802	ENST00000428944|ENST00000380482	.|T	.|0.58060	.|0.36	5.56|5.56	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57607|0.57607	0.2065|0.2065	L|L	0.32530|0.32530	0.975|0.975	0.34415|0.34415	D|D	0.6968|0.6968	.|D	.|0.61080	.|0.989	.|D	.|0.75020	.|0.985	T|T	0.68135|0.68135	-0.5489|-0.5489	5|10	.|0.72032	.|D	.|0.01	-11.8896|-11.8896	7.2181|7.2181	0.25971|0.25971	0.2324:0.0:0.7676:0.0|0.2324:0.0:0.7676:0.0	.|.	.|107	.|Q5VYS4	.|CM033_HUMAN	V|S	44|107	.|ENSP00000369849:R107S	.|ENSP00000369849:R107S	G|R	+|+	2|3	0|2	C13orf33|C13orf33	30389582|30389582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	2.485000|2.485000	0.45250|0.45250	1.095000|1.095000	0.41419|0.41419	0.563000|0.563000	0.77884|0.77884	GGG|AGG	-	NULL		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	protein_coding	OTTHUMT00000044375.1	G	NM_032849	-		31491582	1	no_errors	ENST00000380482	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31491582	G	T	31491582	3	4	237	1	0	0	0	0	1	0	0	0	1729	1223	43	3	327	3	C13orf33	13	31491582	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		31491582	83678296	52	19244											
FAM48A	55578	genome.wustl.edu	37	chr13	37614582	37614582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttattgaatgtacaTcacaaattaaagtctagaag	6	6	2	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr13:37614582T>C	ENST00000350612.6	-	9	747	c.527A>G	c.(526-528)gAt>gGt	p.D176G	SUPT20H_ENST00000356185.3_Missense_Mutation_p.D177G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D176G|SUPT20H_ENST00000542180.1_Missense_Mutation_p.D164G|SUPT20H_ENST00000360252.4_Missense_Mutation_p.D177G|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000464744.1_Missense_Mutation_p.D177G	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	176					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGAATGTACATCACAAATTAA	0.254																																																	0								ENSG00000102710						37	41	40					13																	37614582		2196	4290	6486	SUPT20H	SO:0001583	missense	0			-	HGNC	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.527A>G	13.37:g.37614582T>C	ENSP00000218894:p.Asp176Gly	Somatic	0	132	0		0.553837475695234	6	50	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	58	23.68	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP							pfam_Spt20	p.D176G	ENST00000350612.6	37	c.527	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934359	0.92458	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.88775	2.98	0.80722	D	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	0.97110	0.997;0.996;0.999;1.0;1.0;1.0	D	0.84292	0.0500	10	0.87932	D	0	-21.1557	16.358	0.83243	0.0:0.0:0.0:1.0	.	164;176;176;177;177;176	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	G	177;176;176;177;176;177;164;177	ENSP00000353388:D177G;ENSP00000417510:D176G;ENSP00000218894:D176G;ENSP00000348512:D177G;ENSP00000419754:D177G;ENSP00000439000:D164G;ENSP00000420170:D177G	ENSP00000218894:D176G	D	-	2	0	FAM48A	36512582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.985000	0.88162	2.260000	0.74910	0.528000	0.53228	GAT	-	pfam_Spt20		0.254	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	protein_coding	OTTHUMT00000354766.1	T	NM_017569	-		37614582	-1	no_errors	ENST00000350612	ensembl	human	known	74_37	missense	SNP	1.000	C	C	37614582	T	C	37614582	3	2	237	1	0	0	0	0	1	0	0	0	5574	1435	50	5	1884	5	FAM48A	13	37614582	Missense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	6123000	37614582	77555296	53	19245											
OR11H6	122748	genome.wustl.edu	37	chr14	20692715	20692715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgagcccaacatcaGggaacccagcaggaatgcag	12	10	1	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr14:20692715G>T	ENST00000315519.2	+	1	925	c.847G>T	c.(847-849)Ggg>Tgg	p.G283W		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCCAACATCAGGGAACCCAGC	0.443																																																	0								ENSG00000176219						117	108	111					14																	20692715		2203	4300	6503	OR11H6	SO:0001583	missense	0			-	HGNC		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.847G>T	14.37:g.20692715G>T	ENSP00000319071:p.Gly283Trp	Somatic	0	68	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q6IF08	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G283W	ENST00000315519.2	37	c.847	CCDS32033.1	14	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439793	0.43326	.	.	ENSG00000176219	ENST00000315519	T	0.00164	8.64	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00384	0.0012	M	0.72576	2.205	0.19945	N	0.999947	D	0.71674	0.998	D	0.81914	0.995	T	0.50197	-0.8856	10	0.87932	D	0	.	9.2608	0.37612	0.0963:0.0:0.9037:0.0	.	283	Q8NGC7	O11H6_HUMAN	W	283	ENSP00000319071:G283W	ENSP00000319071:G283W	G	+	1	0	OR11H6	19762555	0.218000	0.23608	0.956000	0.39512	0.843000	0.47879	2.065000	0.41442	2.592000	0.87571	0.471000	0.43371	GGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	protein_coding	OTTHUMT00000410676.1	G		-		20692715	1	no_errors	ENST00000315519	ensembl	human	known	74_37	missense	SNP	0.392	T	T	20692715	G	T	20692715	3	4	237	1	0	0	0	0	1	0	0	0	10931	1000	35	3	849	3	OR11H6	14	20692715	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		20692715	86656825	54	19246											
POLE2	5427	genome.wustl.edu	37	chr14	50117072	50117072	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcgggcacaggatacactcTcaaagcatagtcatatgccc	8	12	2	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr14:50117072T>A	ENST00000216367.5	-	17	1507	c.1408A>T	c.(1408-1410)Aga>Tga	p.R470*	POLE2_ENST00000554396.1_Nonsense_Mutation_p.R470*|POLE2_ENST00000539565.2_Nonsense_Mutation_p.R444*|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	470					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)	GGATACACTCTCAAAGCATAG	0.418																																																	0								ENSG00000100479						150	143	145					14																	50117072		2203	4300	6503	POLE2	SO:0001587	stop_gained	0			-	HGNC	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.1408A>T	14.37:g.50117072T>A	ENSP00000216367:p.Arg470*	Somatic	0	46	0		0.553837475695234	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.00	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Nonsense_Mutation	SNP							pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.R470*	ENST00000216367.5	37	c.1408	CCDS32073.1	14	.	.	.	.	.	.	.	.	.	.	T	36	5.947237	0.97134	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	.	.	.	5.88	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.6787	13.2701	0.60155	0.0:0.0:0.3377:0.6622	.	.	.	.	X	470;444;470	.	ENSP00000216367:R470X	R	-	1	2	POLE2	49186822	0.997000	0.39634	0.994000	0.49952	0.734000	0.41952	0.667000	0.25112	0.998000	0.38996	0.528000	0.53228	AGA	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu		0.418	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	protein_coding	OTTHUMT00000410512.1	T	NM_002692	-		50117072	-1	no_errors	ENST00000216367	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	50117072	T	A	50117072	4	1	237	1	0	0	0	0	0	1	0	0	12199	1559	54	5	187	5	POLE2	14	50117072	Nonsense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	29424357	50117072	57232468	55	19247											
FRMD6	122786	genome.wustl.edu	37	chr14	52174840	52174840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctgaagcacattccAaacatgcacaaagatcagtt	5	11	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr14:52174840A>G	ENST00000344768.5	+	7	799	c.603A>G	c.(601-603)ccA>ccG	p.P201P	FRMD6_ENST00000356218.4_Silent_p.P193P|FRMD6_ENST00000395718.2_Silent_p.P193P|FRMD6_ENST00000554167.1_Silent_p.P124P			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	201	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGCACATTCCAAACATGCACA	0.438																																																	0								ENSG00000139926						125	105	112					14																	52174840		2203	4300	6503	FRMD6	SO:0001819	synonymous_variant	0			-	HGNC	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.603A>G	14.37:g.52174840A>G		Somatic	0	75	0		0.553837475695234	31	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP							pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.P201	ENST00000344768.5	37	c.603	CCDS58318.1	14																																																																																			-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.438	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	protein_coding	OTTHUMT00000276881.1	A	NM_152330	-		52174840	1	no_errors	ENST00000344768	ensembl	human	known	74_37	silent	SNP	0.977	G	G	52174840	A	G	52174840	2	3	237	1	0	0	0	0	0	0	0	1	6056	117	5	5		5	FRMD6	14	52174840	Silent	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	2057768	52174840	55174700	56	19248											
PTGER2	5732	genome.wustl.edu	37	chr14	52794155	52794155	+	Missense_Mutation	SNP	A	A	C													ctacacagtcagatgccagtAaacaggctgacctttgaggt							TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr14:52794155A>C	ENST00000245457.5	+	2	1214	c.1060A>C	c.(1060-1062)Aaa>Caa	p.K354Q	PTGER2_ENST00000557436.1_Missense_Mutation_p.K99Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	354					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGATGCCAGTAAACAGGCTGA	0.388																																																	0								ENSG00000125384						72	69	70					14																	52794155		2203	4300	6503	PTGER2	SO:0001583	missense	0			-	HGNC		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.1060A>C	14.37:g.52794155A>C	ENSP00000245457:p.Lys354Gln	Somatic	0	50	0		0.553837475695234	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	D3DSC0|Q52LG8	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.K354Q	ENST00000245457.5	37	c.1060	CCDS9708.1	14	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983739	0.35036	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	T;T	0.37584	1.19;1.19	4.17	4.17	0.49024	.	0.962638	0.08656	N	0.913219	T	0.30262	0.0759	L	0.43152	1.355	0.27051	N	0.96378	P	0.44877	0.845	B	0.39379	0.298	T	0.12889	-1.0530	10	0.41790	T	0.15	-5.4298	7.1891	0.25816	0.8017:0.0:0.0:0.1983	.	354	P43116	PE2R2_HUMAN	Q	99;354	ENSP00000450933:K99Q;ENSP00000245457:K354Q	ENSP00000245457:K354Q	K	+	1	0	PTGER2	51863905	0.482000	0.25948	0.970000	0.41538	0.988000	0.76386	2.621000	0.46418	2.112000	0.64535	0.533000	0.62120	AAA	-	NULL		0.388	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	protein_coding	OTTHUMT00000276890.1	A		-		52794155	1	no_errors	ENST00000245457	ensembl	human	known	74_37	missense	SNP	0.956	C	C	52794155	A	C	52794155	3	2	237	1	0	0	0	0	1	0	0	0	12749	363	13	5	1066	5	PTGER2	14	52794155	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	619315	52794155	54555385	57	19249	500	2									
PTGER2	5732	genome.wustl.edu	37	chr14	52794162	52794166	+	Frame_Shift_Del	DEL	CTGAC	CTGAC	-													gtcagatgccagtaaacaggCtgacctttgaggtcagtagt							TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	CTGAC	CTGAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr14:52794162_52794166delCTGAC	ENST00000245457.5	+	2	1221_1225	c.1067_1071delCTGAC	c.(1066-1071)gctgacfs	p.AD356fs	PTGER2_ENST00000557436.1_Frame_Shift_Del_p.AD101fs	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	356					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGTAAACAGGCTGACCTTTGAGGTC	0.376																																																	0								ENSG00000125384																																			PTGER2	SO:0001589	frameshift_variant	0				HGNC		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.1067_1071delCTGAC	14.37:g.52794162_52794166delCTGAC	ENSP00000245457:p.Ala356fs	Somatic					0.553837475695234	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				D3DSC0|Q52LG8	Frame_Shift_Del	DEL							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.D357fs	ENST00000245457.5	37	c.1067_1071	CCDS9708.1	14																																																																																			-	NULL		0.376	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	protein_coding	OTTHUMT00000276890.1	CTGAC				52794166	1	no_errors	ENST00000245457	ensembl	human	known	74_37	frame_shift_del	DEL	0.018:0.888:0.956:0.966:0.958	-	-	52794166	CTGAC	-	52794162	7	5	237	1	0	1	0	1	0	0	0	0	12749	797	28	0	1073	0	PTGER2	14	52794162	Frame_Shift_Del	DEL	CTGAC	TCGA-X6-A8C5-01A-11D-A36J-09	7	52794162	54555378	58	19250	500	2									
MKRN3	7681	genome.wustl.edu	37	chr15	23811311	23811311	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctggtcggaagatggccActgagggtggcgtttcgccg	16	9	1	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr15:23811311A>T	ENST00000314520.3	+	1	858	c.382A>T	c.(382-384)Act>Tct	p.T128S	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	128					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAGATGGCCACTGAGGGTGG	0.612																																																	0								ENSG00000179455						48	51	50					15																	23811311		2203	4300	6503	MKRN3	SO:0001583	missense	0			-	HGNC	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.382A>T	15.37:g.23811311A>T	ENSP00000313881:p.Thr128Ser	Somatic	0	53	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53		Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.T128S	ENST00000314520.3	37	c.382	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	A	8.295	0.818543	0.16607	.	.	ENSG00000179455	ENST00000314520	T	0.29655	1.56	3.74	-5.23	0.02798	.	0.367003	0.27739	N	0.018054	T	0.15046	0.0363	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26538	-1.0100	10	0.15499	T	0.54	.	6.013	0.19586	0.2606:0.3092:0.4302:0.0	.	128	Q13064	MKRN3_HUMAN	S	128	ENSP00000313881:T128S	ENSP00000313881:T128S	T	+	1	0	MKRN3	21362404	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.353000	0.07691	-1.114000	0.02977	0.460000	0.39030	ACT	-	NULL		0.612	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	protein_coding	OTTHUMT00000251225.1	A	NM_005664	-		23811311	1	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	SNP	0.000	T	T	23811311	A	T	23811311	3	4	237	1	0	0	0	0	1	0	0	0	9610	159	6	5	384	5	MKRN3	15	23811311	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09		23811311	78720081	59	19251											
EFTUD1	79631	genome.wustl.edu	37	chr15	82450161	82450161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacacagggatcagcctgGtttaacagtttcattccttt	9	9	2	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr15:82450161G>A	ENST00000268206.7	-	17	2091	c.1923C>T	c.(1921-1923)aaC>aaT	p.N641N	EFTUD1_ENST00000359445.3_Silent_p.N590N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	641					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)			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						GATCAGCCTGGTTTAACAGTT	0.398																																																	0								ENSG00000140598						111	106	107					15																	82450161		1884	4105	5989	EFTUD1	SO:0001819	synonymous_variant	0			-	HGNC	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.1923C>T	15.37:g.82450161G>A		Somatic	0	81	0		0.553837475695234	13	31.58	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	94	22.95	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP							pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.N641	ENST00000268206.7	37	c.1923	CCDS42071.1	15																																																																																			-	superfamily_EFG_III-V		0.398	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	protein_coding	OTTHUMT00000419252.1	G	NM_024580	-		82450161	-1	no_errors	ENST00000268206	ensembl	human	known	74_37	silent	SNP	1.000	A	A	82450161	G	A	82450161	2	1	237	1	0	0	0	0	0	0	0	1	4962	1252	44	2		2	EFTUD1	15	82450161	Silent	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	58638850	82450161	20081231	60	19252											
MYH11	4629	genome.wustl.edu	37	chr16	15876309	15876309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccagaatcgggtttgctTgtagaagctgcttttccagc	10	11	0	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr16:15876309T>C	ENST00000300036.5	-	6	768	c.659A>G	c.(658-660)cAa>cGa	p.Q220R	MYH11_ENST00000576790.2_Missense_Mutation_p.Q220R|MYH11_ENST00000452625.2_Missense_Mutation_p.Q227R|MYH11_ENST00000396324.3_Missense_Mutation_p.Q227R	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	220	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGGGTTTGCTTGTAGAAGCTG	0.448			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0								ENSG00000133392						138	128	131					16																	15876309		2197	4300	6497	MYH11	SO:0001583	missense	0			-	HGNC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.659A>G	16.37:g.15876309T>C	ENSP00000300036:p.Gln220Arg	Somatic	0	20	0		0.553837475695234	2811	0.11	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Q227R	ENST00000300036.5	37	c.680	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003741	0.93287	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.23	5.23	0.72850	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93475	0.7918	M	0.86097	2.795	0.80722	D	1	P;D;D;D;D	0.61080	0.939;0.989;0.989;0.989;0.989	D;D;D;D;D	0.68192	0.956;0.941;0.941;0.941;0.941	D	0.94440	0.7657	10	0.87932	D	0	.	14.2442	0.65978	0.0:0.0:0.0:1.0	.	227;220;227;220;227	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	220;220;227;227;227	ENSP00000300036:Q220R;ENSP00000345136:Q220R;ENSP00000379616:Q227R;ENSP00000407821:Q227R	ENSP00000300036:Q220R	Q	-	2	0	MYH11	15783810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.094000	0.63399	0.459000	0.35465	CAA	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.448	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	protein_coding	OTTHUMT00000252192.2	T	NM_001040113	-		15876309	-1	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	SNP	1.000	C	C	15876309	T	C	15876309	3	2	237	1	0	0	0	0	1	0	0	0	10033	1812	63	5	5438	5	MYH11	16	15876309	Missense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09		15876309	74478444	61	19253											
EEF2K	29904	genome.wustl.edu	37	chr16	22274469	22274469	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacagcggataccccagtgaGaagcggggtgagctggatga	17	8	0	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr16:22274469G>A	ENST00000263026.5	+	12	1812	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	446					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACCCCAGTGAGAAGCGGGGTG	0.557																																					NSCLC(195;1411 2157 20319 27471 51856)												0								ENSG00000103319						81	66	71					16																	22274469		2197	4300	6497	EEF2K	SO:0001819	synonymous_variant	0			-	HGNC	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1338G>A	16.37:g.22274469G>A		Somatic	0	100	0		0.553837475695234	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	62	8.82	Q8N588	Silent	SNP							pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.E446	ENST00000263026.5	37	c.1338	CCDS10604.1	16																																																																																			-	pirsf_Elongation_factor_2_kinase		0.557	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	protein_coding	OTTHUMT00000211580.2	G	NM_013302	-		22274469	1	no_errors	ENST00000263026	ensembl	human	known	74_37	silent	SNP	1.000	A	A	22274469	G	A	22274469	2	1	237	1	0	0	0	0	0	0	0	1	4932	933	33	2		2	EEF2K	16	22274469	Silent	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	6398160	22274469	68080284	62	19254											
LRRC50	123872	genome.wustl.edu	37	chr16	84203706	84203706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagaccctgctactgtcGtcacctgtggaggttaaagg	13	10	1	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr16:84203706G>A	ENST00000378553.5	+	8	1396	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	424	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCGTCACCTGTGG	0.622																																																	0								ENSG00000154099						61	64	63					16																	84203706		2200	4300	6500	DNAAF1	SO:0001819	synonymous_variant	0			-	HGNC	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1272G>A	16.37:g.84203706G>A		Somatic	1	111	0.89		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	59	15.71	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP							NULL	p.S424	ENST00000378553.5	37	c.1272	CCDS10943.2	16																																																																																			-	NULL		0.622	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	protein_coding	OTTHUMT00000250328.3	G	NM_178452	-		84203706	1	no_errors	ENST00000378553	ensembl	human	known	74_37	silent	SNP	0.000	A	A	84203706	G	A	84203706	2	1	237	1	0	0	0	0	0	0	0	1	9011	1132	40	1		1	LRRC50	16	84203706	Silent	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	61929237	84203706	6151047	63	19255											
PRDM7	11105	genome.wustl.edu	37	chr16	90128827	90128827	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggtagtcatcatcctGtggctcgctgatctctttgt	10	10	3	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr16:90128827G>A	ENST00000449207.2	-	6	611	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000325921.6_5'Flank	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	198					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCATCATCCTGTGGCTCGCTG	0.458																																																	0								ENSG00000126856						175	181	179					16																	90128827		2012	4180	6192	PRDM7	SO:0001587	stop_gained	0			-	HGNC	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.592C>T	16.37:g.90128827G>A	ENSP00000396732:p.Gln198*	Somatic	0	83	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A4Q9G8|Q08EM4|Q9NQW4	Nonsense_Mutation	SNP							pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Q198*	ENST00000449207.2	37	c.592	CCDS45557.1	16	.	.	.	.	.	.	.	.	.	.	.	11.88	1.771758	0.31320	.	.	ENSG00000126856	ENST00000449207	.	.	.	2.84	0.333	0.15943	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.1685	4.8471	0.13519	0.0:0.2064:0.3749:0.4187	.	.	.	.	X	198	.	.	Q	-	1	0	PRDM7	88656328	0.996000	0.38824	0.481000	0.27354	0.007000	0.05969	1.702000	0.37836	0.287000	0.22375	0.484000	0.47621	CAG	-	pfam_SSXRD_motif		0.458	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	protein_coding	OTTHUMT00000420560.1	G		-		90128827	-1	no_errors	ENST00000449207	ensembl	human	known	74_37	nonsense	SNP	0.524	A	A	90128827	G	A	90128827	4	1	237	1	0	0	0	0	0	1	0	0	12466	1386	48	2	906	2	PRDM7	16	90128827	Nonsense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	5925121	90128827	225926	64	19256											
BCL6B	255877	genome.wustl.edu	37	chr17	6928037	6928038	+	In_Frame_Ins	INS	-	-	CAA													tccagcagcagcagcagcagINScagcagcagcagtgaagaag					rs386385553		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:6928037_6928038insCAA	ENST00000293805.5	+	4	811_812	c.719_720insCAA	c.(718-723)agcagc>agCAAcagc	p.240_241SS>SNS		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	240	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						agcagcagcagcagcagcagca	0.589																																																	0								ENSG00000161940																																			BCL6B	SO:0001652	inframe_insertion	0				HGNC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	Exception_encountered	17.37:g.6928037_6928038insCAA	ENSP00000293805:p.Ser240_Ser241insAsn	Somatic	0	68	0		0.553837475695234	13	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q6PCB4	In_Frame_Ins	INS							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.241in_frame_insN	ENST00000293805.5	37	c.719_720	CCDS42248.1	17																																																																																			-	NULL		0.589	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6B	protein_coding	OTTHUMT00000439455.2	-	NM_181844			6928038	1	no_errors	ENST00000293805	ensembl	human	known	74_37	in_frame_ins	INS	0.967:0.974	CAA	CAA	6928038	-	CAA	6928037	7	5	237	1	0	1	1	0	0	0	0	0	1377	971	34	0	729	0	BCL6B	17	6928037	In_Frame_Ins	INS	-	TCGA-X6-A8C5-01A-11D-A36J-09		6928037	74267173	65	19257											
TP53	7157	genome.wustl.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	12	8	0	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	GRCh37	CM034930	TP53	M		ENSG00000141510						132	103	113					17																	7577568		2203	4300	6503	TP53	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;	-	HGNC	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	Somatic	0	52	0		0.553837475695234	16	72.88	43	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	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							pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C238Y	ENST00000269305.4	37	c.713	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577568	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T	T	7577568	C	T	7577568	3	4	237	1	0	0	0	0	1	0	0	0	16388	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	649531	7577568	73617642	66	19258											
KRT23	25984	genome.wustl.edu	37	chr17	39081634	39081634	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctccaggagccgtcGgtacgtggtgatttccttct	10	14	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:39081634G>A	ENST00000209718.3	-	7	1538	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	KRT23_ENST00000436344.3_Nonsense_Mutation_p.R235*|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	372	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R372R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGGAGCCGTCGGTACGTGGTG	0.557																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000108244						199	152	168					17																	39081634		2203	4300	6503	KRT23	SO:0001587	stop_gained	0			-	HGNC	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.1114C>T	17.37:g.39081634G>A	ENSP00000209718:p.Arg372*	Somatic	0	48	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	21	30.00	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Nonsense_Mutation	SNP							pfam_IF,prints_Keratin_I	p.R372*	ENST00000209718.3	37	c.1114	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.752212	0.97813	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	.	.	.	5.49	5.49	0.81192	.	0.131519	0.35936	N	0.002893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3809	0.94532	0.0:0.0:1.0:0.0	.	.	.	.	X	372;235	.	ENSP00000209718:R372X	R	-	1	2	KRT23	36335160	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.762000	0.62250	2.581000	0.87130	0.655000	0.94253	CGA	-	pfam_IF		0.557	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	protein_coding	OTTHUMT00000257223.1	G		-		39081634	-1	no_errors	ENST00000209718	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	39081634	G	A	39081634	4	1	237	1	0	0	0	0	0	1	0	0	8462	1124	39	1	166	1	KRT23	17	39081634	Nonsense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	31504066	39081634	42113576	67	19259											
KLHL10	317719	genome.wustl.edu	37	chr17	40004446	40004446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctgagctgctgtgtaGtaccagggctggccaatgtt	14	9	1	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:40004446G>T	ENST00000293303.4	+	5	1867	c.1714G>T	c.(1714-1716)Gta>Tta	p.V572L	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	572					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CTGCTGTGTAGTACCAGGGCT	0.458																																																	0								ENSG00000161594						124	122	123					17																	40004446		2004	4185	6189	KLHL10	SO:0001583	missense	0			-	HGNC	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1714G>T	17.37:g.40004446G>T	ENSP00000293303:p.Val572Leu	Somatic	0	50	0		0.553837475695234	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q6NW28|Q96MC0	Missense_Mutation	SNP							pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V572L	ENST00000293303.4	37	c.1714	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041522	0.55003	.	.	ENSG00000161594	ENST00000293303	T	0.64991	-0.13	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.118400	0.56097	D	0.000026	T	0.51346	0.1669	L	0.27053	0.805	0.46011	D	0.99881	B	0.21520	0.057	B	0.16289	0.015	T	0.40496	-0.9560	9	.	.	.	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	572	Q6JEL2	KLH10_HUMAN	L	572	ENSP00000293303:V572L	.	V	+	1	0	KLHL10	37257972	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.136000	0.50554	2.941000	0.99782	0.655000	0.94253	GTA	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.458	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	protein_coding	OTTHUMT00000326535.1	G	NM_152467	-		40004446	1	no_errors	ENST00000293303	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40004446	G	T	40004446	3	4	237	1	0	0	0	0	1	0	0	0	8368	1029	36	3	1732	3	KLHL10	17	40004446	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	922812	40004446	41190764	68	19260											
PITPNC1	26207	genome.wustl.edu	37	chr17	65683225	65683225	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatacgagaaaaacatgcaTgaacaaaccaacataaaagt	6	7	0	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:65683225T>A	ENST00000581322.1	+	9	682				PITPNC1_ENST00000580974.1_Missense_Mutation_p.H242Q|PITPNC1_ENST00000299954.9_Missense_Mutation_p.H242Q|PITPNC1_ENST00000335257.6_Intron			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AAAACATGCATGAACAAACCA	0.388																																																	0								ENSG00000154217						159	153	155					17																	65683225		1933	4122	6055	PITPNC1	SO:0001627	intron_variant	0			-	HGNC	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.683-5463T>A	17.37:g.65683225T>A		Somatic	0	67	0		0.553837475695234	36	7.69	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	61	29.07	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP							pfam_PI_transfer,prints_PI_transfer	p.H242Q	ENST00000581322.1	37	c.726	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059535	0.36373	.	.	ENSG00000154217	ENST00000299954	T	0.38077	1.16	5.13	5.13	0.70059	.	.	.	.	.	T	0.05960	0.0155	N	0.00017	-2.835	0.22521	N	0.999023	B	0.06786	0.001	B	0.06405	0.002	T	0.11251	-1.0595	9	0.02654	T	1	.	11.2641	0.49099	0.0:0.0:0.1527:0.8472	.	242	Q9UKF7-2	.	Q	242	ENSP00000299954:H242Q	ENSP00000299954:H242Q	H	+	3	2	PITPNC1	63113687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.092000	0.64511	2.046000	0.60703	0.482000	0.46254	CAT	-	pfam_PI_transfer		0.388	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	protein_coding	OTTHUMT00000447194.1	T	NM_012417	-		65683225	1	no_errors	ENST00000299954	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65683225	T	A	65683225	1	1	237	0	1	0	0	0	0	0	0	0	11951	1461	51	5		5	PITPNC1	17	65683225	Intron	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	25678779	65683225	15511985	69	19261											
C17orf28	283987	genome.wustl.edu	37	chr17	72950352	72950352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggctcaggtgtccgcCggcgccgctgcagggccttg	16	14	1	0	rs566625537		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:72950352C>T	ENST00000425042.2	-	14	1822	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	582					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGGTGTCCGCCGGCGCCGCTG	0.692													C|||	1	0.000199681	0	0	5008	,	,		15282	0.001		0	False		,,,				2504	0																0								ENSG00000167861																																			HID1	SO:0001583	missense	0			-	HGNC		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1745G>A	17.37:g.72950352C>T	ENSP00000413520:p.Arg582Gln	Somatic	0	50	0		0.553837475695234	15	6.25	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	32	52.24	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP							pfam_Dymeclin	p.R582Q	ENST00000425042.2	37	c.1745	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175750	0.38413	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	4.47	0.54385	.	0.160773	0.52532	D	0.000078	T	0.33323	0.0859	N	0.20401	0.57	0.45035	D	0.998053	B	0.16603	0.018	B	0.20184	0.028	T	0.17289	-1.0374	9	0.34782	T	0.22	-25.6466	5.8677	0.18786	0.0:0.7421:0.0:0.2579	.	582	Q8IV36	CQ028_HUMAN	Q	354;582;354	.	ENSP00000317795:R354Q	R	-	2	0	C17orf28	70461947	1.000000	0.71417	0.896000	0.35187	0.361000	0.29550	3.589000	0.53972	2.026000	0.59711	0.561000	0.74099	CGG	-	NULL		0.692	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	protein_coding	OTTHUMT00000390011.2	C	NM_030630	-		72950352	-1	no_errors	ENST00000425042	ensembl	human	known	74_37	missense	SNP	0.927	T	T	72950352	C	T	72950352	3	4	237	1	0	0	0	0	1	0	0	0	1855	652	23	1	645	1	C17orf28	17	72950352	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	7267127	72950352	8244858	70	19262											
BAHCC1	57597	genome.wustl.edu	37	chr17	79411747	79411747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggcttccccgcctccGtggctggccctgtgccctct	10	22	1	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:79411747G>A	ENST00000307745.7	+	12	2566	c.2566G>A	c.(2566-2568)Gtg>Atg	p.V856M																								CCCCGCCTCCGTGGCTGGCCC	0.726																																																	0								ENSG00000171282						28	36	34					17																	79411747		1998	4149	6147	RP11-1055B8.7	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000307745.7:c.2566G>A	17.37:g.79411747G>A	ENSP00000303486:p.Val856Met	Somatic	0	13	0		0.553837475695234	1	50	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	5	54.55		Missense_Mutation	SNP							pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.V856M	ENST00000307745.7	37	c.2566		17	.	.	.	.	.	.	.	.	.	.	G	5.074	0.199331	0.09652	.	.	ENSG00000171282	ENST00000307745	T	0.54279	0.58	4.63	3.58	0.41010	.	0.492500	0.16564	N	0.208921	T	0.23688	0.0573	N	0.11724	0.165	0.35090	D	0.764245	B;P	0.38729	0.269;0.644	B;B	0.26693	0.019;0.072	T	0.21586	-1.0241	10	0.32370	T	0.25	.	3.9825	0.09501	0.3243:0.0:0.6757:0.0	.	856;856	Q9P281;F8WBW8	BAHC1_HUMAN;.	M	856	ENSP00000303486:V856M	ENSP00000303486:V856M	V	+	1	0	AC110285.1	77026342	1.000000	0.71417	0.937000	0.37676	0.109000	0.19521	5.566000	0.67372	2.381000	0.81170	0.491000	0.48974	GTG	-	NULL		0.726	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	protein_coding		G		-		79411747	1	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	SNP	0.993	A	A	79411747	G	A	79411747	3	1	237	1	0	0	0	0	1	0	0	0	1296	1145	40	1	2427	1	BAHCC1	17	79411747	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	6461395	79411747	1783463	71	19263											
LRRC45	201255	genome.wustl.edu	37	chr17	79986369	79986369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgagctgaagatgcggGccatccaggccgagggtggg	18	10	0	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr17:79986369G>A	ENST00000306688.3	+	11	1564	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	408						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAAGATGCGGGCCATCCAGGC	0.657																																																	0								ENSG00000169683						29	32	31					17																	79986369		2190	4295	6485	LRRC45	SO:0001583	missense	0			-	HGNC	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1222G>A	17.37:g.79986369G>A	ENSP00000306760:p.Ala408Thr	Somatic	0	31	0		0.553837475695234	44	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Missense_Mutation	SNP							pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A408T	ENST00000306688.3	37	c.1222	CCDS11797.1	17	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171277	0.09391	.	.	ENSG00000169683	ENST00000306688	T	0.42131	0.98	3.83	1.61	0.23674	.	0.670897	0.14404	N	0.321719	T	0.38108	0.1028	M	0.65975	2.015	0.09310	N	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.28681	-1.0036	9	.	.	.	-1.9855	8.9988	0.36069	0.0909:0.0:0.7522:0.157	.	408	Q96CN5	LRC45_HUMAN	T	408	ENSP00000306760:A408T	.	A	+	1	0	LRRC45	77579658	0.934000	0.31675	0.312000	0.25196	0.085000	0.17905	2.738000	0.47401	0.816000	0.34421	0.491000	0.48974	GCC	-	NULL		0.657	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC45	protein_coding	OTTHUMT00000442058.1	G	NM_144999	-		79986369	1	no_errors	ENST00000306688	ensembl	human	known	74_37	missense	SNP	0.077	A	A	79986369	G	A	79986369	3	1	237	1	0	0	0	0	1	0	0	0	9004	1203	42	2	1264	2	LRRC45	17	79986369	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	574622	79986369	1208841	72	19264											
MYO5B	4645	genome.wustl.edu	37	chr18	47463703	47463703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcgaagatgaccccTtcccaggggtggtggcagga	14	10	1	3	rs199813207		TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr18:47463703T>A	ENST00000285039.7	-	15	2116	c.1817A>T	c.(1816-1818)aAg>aTg	p.K606M		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	606	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)		AGATGACCCCTTCCCAGGGGT	0.527																																																	0								ENSG00000167306						80	79	79					18																	47463703		1965	4159	6124	MYO5B	SO:0001583	missense	0			-	HGNC	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.1817A>T	18.37:g.47463703T>A	ENSP00000285039:p.Lys606Met	Somatic	0	76	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	54	37.21	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K606M	ENST00000285039.7	37	c.1817	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266528	0.40095	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.88124	-2.34	5.01	3.81	0.43845	Myosin head, motor domain (2);	0.542264	0.16677	N	0.204134	D	0.84880	0.5570	L	0.28192	0.835	0.80722	D	1	P;B	0.48834	0.916;0.075	P;B	0.53450	0.726;0.139	T	0.81984	-0.0682	10	0.46703	T	0.11	.	10.0152	0.42010	0.0:0.0829:0.0:0.9171	.	605;606	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	M	606;605	ENSP00000285039:K606M	ENSP00000285039:K606M	K	-	2	0	MYO5B	45717701	1.000000	0.71417	0.391000	0.26233	0.060000	0.15804	3.024000	0.49674	0.726000	0.32339	0.454000	0.30748	AAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	T		-		47463703	-1	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	SNP	1.000	A	A	47463703	T	A	47463703	3	1	237	1	0	0	0	0	1	0	0	0	10081	1609	56	5	3833	5	MYO5B	18	47463703	Missense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09		47463703	30613545	73	19265											
PIGN	23556	genome.wustl.edu	37	chr18	59739931	59739931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatatcaagccagctgcCataatccttgaccaagaaga	6	13	1	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr18:59739931C>T	ENST00000357637.5	-	30	3062	c.2647G>A	c.(2647-2649)Ggc>Agc	p.G883S	PIGN_ENST00000400334.3_Missense_Mutation_p.G883S	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	883					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				AGCCAGCTGCCATAATCCTTG	0.318																																																	0								ENSG00000197563						36	37	37					18																	59739931		1810	4074	5884	PIGN	SO:0001583	missense	0			-	HGNC	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2647G>A	18.37:g.59739931C>T	ENSP00000350263:p.Gly883Ser	Somatic	0	112	0		0.553837475695234	8	46.67	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	58	33.33	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP							pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G883S	ENST00000357637.5	37	c.2647	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.247546	0.95305	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	D;D	0.91237	-2.81;-2.81	5.97	5.97	0.96955	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.115209	0.64402	D	0.000016	D	0.96661	0.8910	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96638	0.9472	10	0.59425	D	0.04	-11.3808	19.2039	0.93722	0.0:1.0:0.0:0.0	.	883;883	B2RCI8;O95427	.;PIGN_HUMAN	S	883	ENSP00000350263:G883S;ENSP00000383188:G883S	ENSP00000350263:G883S	G	-	1	0	PIGN	57890911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	2.833000	0.97629	0.585000	0.79938	GGC	-	pfam_GPI_EtnP_transferase_1_C		0.318	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	protein_coding	OTTHUMT00000449757.2	C	NM_176787	-		59739931	-1	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	SNP	1.000	T	T	59739931	C	T	59739931	3	4	237	1	0	0	0	0	1	0	0	0	11895	594	21	2	156	2	PIGN	18	59739931	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	12276228	59739931	18337317	74	19266											
ABCA7	10347	genome.wustl.edu	37	chr19	1057962	1057962	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctccttcttcttctccgtGcccagcacagcctatgtggt	8	16	3	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:1057962G>T	ENST00000263094.6	+	36	5160	c.4929G>T	c.(4927-4929)gtG>gtT	p.V1643V	ABCA7_ENST00000433129.1_Silent_p.V1643V|ABCA7_ENST00000435683.2_Silent_p.V1505V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1643					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		TCTTCTCCGTGCCCAGCACAG	0.527																																																	0								ENSG00000064687						158	142	148					19																	1057962		2203	4300	6503	ABCA7	SO:0001819	synonymous_variant	0			-	HGNC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4929G>T	19.37:g.1057962G>T		Somatic	0	25	0		0.553837475695234	11	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1643	ENST00000263094.6	37	c.4929	CCDS12055.1	19																																																																																			-	NULL		0.527	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	protein_coding	OTTHUMT00000394993.1	G	NM_019112	-		1057962	1	no_errors	ENST00000263094	ensembl	human	known	74_37	silent	SNP	1.000	T	T	1057962	G	T	1057962	2	4	237	1	0	0	0	0	0	0	0	1	37	1306	46	3		3	ABCA7	19	1057962	Silent	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		1057962	58071021	75	19267											
XAB2	56949	genome.wustl.edu	37	chr19	7691075	7691075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctcgtcgttcaccacggTggccaggcgctgggcggcct	15	15	1	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:7691075T>C	ENST00000358368.4	-	5	641	c.604A>G	c.(604-606)Acc>Gcc	p.T202A	XAB2_ENST00000534844.1_Missense_Mutation_p.T199A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	202					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TTCACCACGGTGGCCAGGCGC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)																																									0								ENSG00000076924						103	110	107					19																	7691075		2203	4300	6503	XAB2	SO:0001583	missense	0			-	HGNC	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.604A>G	19.37:g.7691075T>C	ENSP00000351137:p.Thr202Ala	Somatic	0	41	0		0.553837475695234	110	9.09	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP							smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T202A	ENST00000358368.4	37	c.604	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	T	2.267	-0.367913	0.05069	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.62498	0.02;0.02	4.82	3.8	0.43715	.	0.069101	0.64402	D	0.000017	T	0.30634	0.0771	N	0.03050	-0.425	0.33369	D	0.573286	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	10	0.12766	T	0.61	-45.9179	6.4247	0.21764	0.0:0.1941:0.0:0.8059	.	202	Q9HCS7	SYF1_HUMAN	A	202;199	ENSP00000351137:T202A;ENSP00000438225:T199A	ENSP00000351137:T202A	T	-	1	0	XAB2	7597075	1.000000	0.71417	0.945000	0.38365	0.124000	0.20399	2.187000	0.42602	0.707000	0.31934	0.454000	0.30748	ACC	-	NULL		0.657	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	protein_coding	OTTHUMT00000461021.1	T	NM_020196	-		7691075	-1	no_errors	ENST00000358368	ensembl	human	known	74_37	missense	SNP	0.998	C	C	7691075	T	C	7691075	3	2	237	1	0	0	0	0	1	0	0	0	17425	1696	59	5	2023	5	XAB2	19	7691075	Missense_Mutation	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	6633113	7691075	51437908	76	19268											
LPPR2	64748	genome.wustl.edu	37	chr19	11470240	11470240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgtgatcctgcttgcTtaccgcctggagttcacgga	12	11	1	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:11470240T>C	ENST00000251473.5	+	4	475	c.99T>C	c.(97-99)gcT>gcC	p.A33A	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCCTGCTTGCTTACCGCCTGG	0.617																																																	0								ENSG00000105520						121	89	100					19																	11470240		2203	4300	6503	DKFZP761J1410	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000251473.5:c.99T>C	19.37:g.11470240T>C		Somatic	0	22	0		0.553837475695234	78	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00		Silent	SNP							pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A33	ENST00000251473.5	37	c.99	CCDS12258.1	19																																																																																			-	NULL		0.617	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	protein_coding	OTTHUMT00000458779.1	T		-		11470240	1	no_errors	ENST00000251473	ensembl	human	known	74_37	silent	SNP	0.706	C	C	11470240	T	C	11470240	2	2	237	1	0	0	0	0	0	0	0	1	8927	1596	56	5		5	LPPR2	19	11470240	Silent	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	3779165	11470240	47658743	77	19269											
ZNF700	90592	genome.wustl.edu	37	chr19	12060266	12060266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctatgaatGtaaggaatgtgggaaagcct	13	5	0	2			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:12060266G>A	ENST00000254321.5	+	4	1570	c.1427G>A	c.(1426-1428)tGt>tAt	p.C476Y	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.C458Y|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCCTATGAATGTAAGGAATGT	0.418																																																	0								ENSG00000196757						74	75	75					19																	12060266		2203	4300	6503	ZNF700	SO:0001583	missense	0			-	HGNC	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1427G>A	19.37:g.12060266G>A	ENSP00000254321:p.Cys476Tyr	Somatic	0	54	0		0.553837475695234	7	68.18	15	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	11	52.17	B9EGU4	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C476Y	ENST00000254321.5	37	c.1427	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	14.86	2.662913	0.47572	.	.	ENSG00000196757	ENST00000254321	D	0.85088	-1.94	0.606	0.606	0.17559	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93651	0.7972	H	0.96333	3.805	0.25831	N	0.984169	D	0.89917	1.0	D	0.97110	1.0	D	0.84245	0.0474	9	0.87932	D	0	.	8.6677	0.34132	0.0:0.0:1.0:0.0	.	476	Q9H0M5	ZN700_HUMAN	Y	476	ENSP00000254321:C476Y	ENSP00000254321:C476Y	C	+	2	0	ZNF700	11921266	1.000000	0.71417	0.343000	0.25615	0.312000	0.27988	4.193000	0.58385	0.577000	0.29470	0.195000	0.17529	TGT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	protein_coding	OTTHUMT00000344126.2	G	NM_144566	-		12060266	1	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	SNP	0.514	A	A	12060266	G	A	12060266	3	1	237	1	0	0	0	0	1	0	0	0	18111	1377	48	2	1441	2	ZNF700	19	12060266	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09	590026	12060266	47068717	78	19270											
GMIP	51291	genome.wustl.edu	37	chr19	19746284	19746292	+	In_Frame_Del	DEL	CCGCAGTCG	CCGCAGTCG	-													tcgcggcacttggctgggccCcgcagtcgccgcagctggtg							TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	CCGCAGTCG	CCGCAGTCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:19746284_19746292delCCGCAGTCG	ENST00000203556.4	-	15	1629_1637	c.1492_1500delCGACTGCGG	c.(1492-1500)cgactgcggdel	p.RLR498del	GMIP_ENST00000587238.1_In_Frame_Del_p.RLR472del|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_In_Frame_Del_p.RLR469del	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	498					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCTGGGCCCCGCAGTCGCCGCAGCTGG	0.651																																																	0								ENSG00000089639																																			GMIP	SO:0001651	inframe_deletion	0				HGNC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1492_1500delCGACTGCGG	19.37:g.19746284_19746292delCCGCAGTCG	ENSP00000203556:p.Arg498_Arg500del	Somatic					0.553837475695234	23	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				A0AVN9|B7ZLZ0	In_Frame_Del	DEL							pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.RLR498in_frame_del	ENST00000203556.4	37	c.1500_1492	CCDS12408.1	19																																																																																			-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.651	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	protein_coding	OTTHUMT00000460551.1	CCGCAGTCG	NM_016573			19746292	-1	no_errors	ENST00000203556	ensembl	human	known	74_37	in_frame_del	DEL	0.979:1.000:1.000:1.000:1.000:1.000:0.983:0.995:0.997	-	-	19746292	CCGCAGTCG	-	19746284	7	5	237	1	0	1	0	1	0	0	0	0	6493	610	22	0	1440	0	GMIP	19	19746284	In_Frame_Del	DEL	CCGCAGTCG	TCGA-X6-A8C5-01A-11D-A36J-09	7686018	19746284	39382699	79	19271											
IL29	282618	genome.wustl.edu	37	chr19	39789057	39789057	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgcctggaggcatcTgtcaccttcaacctcttccg	10	15	4	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:39789057T>A	ENST00000333625.2	+	5	601	c.504T>A	c.(502-504)tcT>tcA	p.S168S		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	168					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										TGGAGGCATCTGTCACCTTCA	0.617																																																	0								ENSG00000182393						108	107	107					19																	39789057		2203	4300	6503	IFNL1	SO:0001819	synonymous_variant	0			-	HGNC	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.504T>A	19.37:g.39789057T>A		Somatic	0	158	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	54	47.66	A0AV25|Q17R34	Silent	SNP							NULL	p.S168	ENST00000333625.2	37	c.504	CCDS12531.1	19																																																																																			-	NULL		0.617	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL1	protein_coding	OTTHUMT00000463834.1	T	NM_172140	-		39789057	1	no_errors	ENST00000333625	ensembl	human	known	74_37	silent	SNP	0.881	A	A	39789057	T	A	39789057	2	1	237	1	0	0	0	0	0	0	0	1	7687	1567	55	5		5	IL29	19	39789057	Silent	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	20042773	39789057	19339926	80	19272											
SERTAD1	29950	genome.wustl.edu	37	chr19	40929254	40929254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgttcacgaccagcaccAggtgccgcaggtccggctca	13	14	2	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:40929254A>G	ENST00000357949.4	-	2	358	c.200T>C	c.(199-201)cTg>cCg	p.L67P		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	67	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACCAGCACCAGGTGCCGCAG	0.682																																																	0								ENSG00000197019						21	24	23					19																	40929254		2203	4299	6502	SERTAD1	SO:0001583	missense	0			-	HGNC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"CDK4-binding protein p34SEI", "transcriptional regulator interacting with the PHD-bromodomain 1"					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.200T>C	19.37:g.40929254A>G	ENSP00000350633:p.Leu67Pro	Somatic	0	40	0		0.553837475695234	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q9BUE7	Missense_Mutation	SNP							pfam_SERTA,pfscan_SERTA	p.L67P	ENST00000357949.4	37	c.200	CCDS12557.1	19	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568266	0.65651	.	.	ENSG00000197019	ENST00000357949	T	0.49720	0.77	5.16	5.16	0.70880	.	0.220217	0.33327	N	0.005028	T	0.58864	0.2152	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.58059	-0.7703	10	0.41790	T	0.15	-7.179	13.9786	0.64287	1.0:0.0:0.0:0.0	.	67	Q9UHV2	SRTD1_HUMAN	P	67	ENSP00000350633:L67P	ENSP00000350633:L67P	L	-	2	0	SERTAD1	45621094	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.943000	0.63554	1.952000	0.56665	0.459000	0.35465	CTG	-	pfam_SERTA,pfscan_SERTA		0.682	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD1	protein_coding	OTTHUMT00000462571.1	A	NM_013376	-		40929254	-1	no_errors	ENST00000357949	ensembl	human	known	74_37	missense	SNP	1.000	G	G	40929254	A	G	40929254	3	3	237	1	0	0	0	0	1	0	0	0	14128	188	7	5	514	5	SERTAD1	19	40929254	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	1140197	40929254	18199729	81	19273											
CEACAM3	1084	genome.wustl.edu	37	chr19	42300630	42300630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggggcccccctcagcctcTccccacagagaatgcatccc	8	19	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:42300630T>C	ENST00000357396.3	+	1	262	c.21T>C	c.(19-21)tcT>tcC	p.S7S	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.S7S|CEACAM3_ENST00000221999.4_Silent_p.S7S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	7			S -> P (in dbSNP:rs1041999). {ECO:0000269|PubMed:2050678}.			integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCTCAGCCTCTCCCCACAGAG	0.602																																																	0								ENSG00000170956						43	44	43					19																	42300630		2203	4300	6503	CEACAM3	SO:0001819	synonymous_variant	0			-	HGNC	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.21T>C	19.37:g.42300630T>C		Somatic	0	39	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	G5E978|Q3KPH9	Silent	SNP							pfam_Ig_V-set	p.S7	ENST00000357396.3	37	c.21	CCDS12586.2	19																																																																																			-	NULL		0.602	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	protein_coding	OTTHUMT00000316509.2	T	NM_001815	-		42300630	1	no_errors	ENST00000357396	ensembl	human	known	74_37	silent	SNP	0.000	C	C	42300630	T	C	42300630	2	2	237	1	0	0	0	0	0	0	0	1	3195	1538	54	5		5	CEACAM3	19	42300630	Silent	SNP	T	TCGA-X6-A8C5-01A-11D-A36J-09	1371376	42300630	16828353	82	19274											
ZNF671	79891	genome.wustl.edu	37	chr19	58232660	58232660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttgtggggcttcatgCtgctgagagaggcctgatgc	15	9	2	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr19:58232660C>T	ENST00000317398.6	-	4	889	c.794G>A	c.(793-795)aGc>aAc	p.S265N	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.S167N	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGGCTTCATGCTGCTGAGAGA	0.527																																																	0								ENSG00000083814						74	69	71					19																	58232660		2203	4300	6503	ZNF671	SO:0001583	missense	0			-	HGNC		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.794G>A	19.37:g.58232660C>T	ENSP00000321848:p.Ser265Asn	Somatic	0	36	0		0.553837475695234	21	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A6NF07|Q9H5E9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S265N	ENST00000317398.6	37	c.794	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	C	1.814	-0.473979	0.04414	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.11930	2.73;2.73	1.58	-3.15	0.05233	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33111	-0.9881	9	0.72032	D	0.01	.	3.8683	0.09025	0.19:0.2164:0.0:0.5936	.	265	Q8TAW3	ZN671_HUMAN	N	265;167	ENSP00000321848:S265N;ENSP00000338670:S167N	ENSP00000321848:S265N	S	-	2	0	ZNF671	62924472	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-1.181000	0.03085	-1.186000	0.02713	0.467000	0.42956	AGC	-	NULL		0.527	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	protein_coding	OTTHUMT00000466817.1	C	NM_024833	-		58232660	-1	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	SNP	0.000	T	T	58232660	C	T	58232660	3	4	237	1	0	0	0	0	1	0	0	0	18085	797	28	2	814	2	ZNF671	19	58232660	Missense_Mutation	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	15932030	58232660	896323	83	19275											
WFDC12	128488	genome.wustl.edu	37	chr20	43752883	43752883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtacgttgtcagctgGgcaaacccctgctttctcta	10	13	2	0			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chr20:43752883G>T	ENST00000372785.3	-	2	120	c.103C>A	c.(103-105)Cca>Aca	p.P35T		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	35	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TTGTCAGCTGGGCAAACCCCT	0.577																																																	0								ENSG00000168703						104	88	94					20																	43752883		2203	4300	6503	WFDC12	SO:0001583	missense	0			-	HGNC	Z93016	CCDS13343.1	20q13.12	2013-01-21	2003-02-21	2003-02-21	ENSG00000168703	ENSG00000168703		"WAP four-disulfide core domain containing"	16115	protein-coding gene	gene with protein product		609872	"chromosome 20 open reading frame 122"	C20orf122		11779191, 12206714	Standard	NM_080869		Approved	dJ211D12.4, WAP2	uc002xnf.1	Q8WWY7	OTTHUMG00000046412	ENST00000372785.3:c.103C>A	20.37:g.43752883G>T	ENSP00000361871:p.Pro35Thr	Somatic	0	49	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5H980|Q9BR31	Missense_Mutation	SNP							pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core	p.P35T	ENST00000372785.3	37	c.103	CCDS13343.1	20	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506807	0.44558	.	.	ENSG00000168703	ENST00000372785	D	0.90504	-2.68	3.46	3.46	0.39613	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	.	.	.	.	D	0.96956	0.9006	H	0.98487	4.245	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90058	0.4154	9	0.87932	D	0	-5.4346	10.4422	0.44472	0.0:0.0:1.0:0.0	.	35	Q8WWY7	WFD12_HUMAN	T	35	ENSP00000361871:P35T	ENSP00000361871:P35T	P	-	1	0	WFDC12	43186297	0.315000	0.24571	0.025000	0.17156	0.006000	0.05464	2.222000	0.42926	1.472000	0.48140	0.557000	0.71058	CCA	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core		0.577	WFDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC12	protein_coding	OTTHUMT00000107194.1	G		-		43752883	-1	no_errors	ENST00000372785	ensembl	human	known	74_37	missense	SNP	0.140	T	T	43752883	G	T	43752883	3	4	237	1	0	0	0	0	1	0	0	0	17357	1232	43	3	240	3	WFDC12	20	43752883	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		43752883	19272637	84	19276											
RGAG4	340526	genome.wustl.edu	37	chrX	71349949	71349949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccacttgtggggccagaaGtctgggatgacgcgtgaaca	14	9	1	3			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chrX:71349949G>A	ENST00000545866.1	-	1	1809	c.1442C>T	c.(1441-1443)aCt>aTt	p.T481I	RGAG4_ENST00000609883.1_Missense_Mutation_p.T481I|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	481										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGGCCAGAAGTCTGGGATGA	0.547																																																	0								ENSG00000242732						92	92	92					X																	71349949		2128	4210	6338	RGAG4	SO:0001583	missense	0			-	HGNC	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1442C>T	X.37:g.71349949G>A	ENSP00000441366:p.Thr481Ile	Somatic	0	89	0		0.553837475695234	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	41	43.84	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP							pfam_Retrotrans_gag_dom	p.T481I	ENST00000545866.1	37	c.1442	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590151	0.28357	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.21734	1.99;1.99	3.87	2.03	0.26663	.	.	.	.	.	T	0.10895	0.0266	N	0.19112	0.55	0.18873	N	0.999989	B	0.20550	0.046	B	0.14578	0.011	T	0.34329	-0.9833	8	.	.	.	-1.0359	3.9849	0.09511	0.1198:0.0:0.462:0.4182	.	481	Q5HYW3	RGAG4_HUMAN	I	481	ENSP00000441366:T481I;ENSP00000418667:T481I	.	T	-	2	0	RGAG4	71266674	0.997000	0.39634	0.248000	0.24265	0.051000	0.14879	1.325000	0.33724	0.395000	0.25257	0.500000	0.49745	ACT	-	NULL		0.547	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	protein_coding	OTTHUMT00000057171.1	G	NM_001024455	-		71349949	-1	no_errors	ENST00000479991	ensembl	human	known	74_37	missense	SNP	0.206	A	A	71349949	G	A	71349949	3	1	237	1	0	0	0	0	1	0	0	0	13283	1029	36	2	271	2	RGAG4	23	71349949	Missense_Mutation	SNP	G	TCGA-X6-A8C5-01A-11D-A36J-09		71349949	83920611	85	19277											
CXorf57	55086	genome.wustl.edu	37	chrX	105905498	105905498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgatgattttaagagCgcccgaagccttggacattt	9	8	0	3	rs140805762	byFrequency	TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chrX:105905498C>T	ENST00000372548.4	+	12	2341	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Silent_p.S647S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	744							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTTTAAGAGCGCCCGAAGCC	0.358																																																	0								ENSG00000147231	C	,	0,3833		0,0,0,1631,571	71	69	69		1941,2232	-3.3	0.1	X	dbSNP_134	69	3,6725		0,2,1,2426,1871	no	coding-synonymous,coding-synonymous	CXorf57	NM_001184782.1,NM_018015.5	,	0,2,1,4057,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	,	647/759,744/856	105905498	3,10558	2202	4300	6502	CXorf57	SO:0001819	synonymous_variant	0			-	HGNC	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2232C>T	X.37:g.105905498C>T		Somatic	0	83	0		0.553837475695234	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	40	39.39	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP							superfamily_NA-bd_OB-fold	p.S744	ENST00000372548.4	37	c.2232	CCDS14519.1	X																																																																																			-	NULL		0.358	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	protein_coding	OTTHUMT00000057800.2	C	NM_018015	rs140805762		105905498	1	no_errors	ENST00000372548	ensembl	human	known	74_37	silent	SNP	0.525	T	T	105905498	C	T	105905498	2	4	237	1	0	0	0	0	0	0	0	1	4115	767	27	1		1	CXorf57	23	105905498	Silent	SNP	C	TCGA-X6-A8C5-01A-11D-A36J-09	34555549	105905498	49365062	86	19278											
LONRF3	79836	genome.wustl.edu	37	chrX	118124458	118124458	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccactgatcagggggacaaAcctgctctcagtttaccact	8	14	2	1			TCGA-X6-A8C5-01A-11D-A36J-09	TCGA-X6-A8C5-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf1d985-f27a-4a23-879e-a10eb81baee0	97f61111-eda5-46fb-84f3-9b3f68f9617b	g.chrX:118124458A>T	ENST00000371628.3	+	5	1381	c.1350A>T	c.(1348-1350)aaA>aaT	p.K450N	LONRF3_ENST00000422289.2_Missense_Mutation_p.K194N|LONRF3_ENST00000304778.7_Missense_Mutation_p.K409N|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	450							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGGGGGACAAACCTGCTCTCA	0.463																																																	0								ENSG00000175556						301	197	232					X																	118124458		2203	4300	6503	LONRF3	SO:0001583	missense	0			-	HGNC	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1350A>T	X.37:g.118124458A>T	ENSP00000360690:p.Lys450Asn	Somatic	0	38	0		0.553837475695234	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	56	11.11	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP							pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.K450N	ENST00000371628.3	37	c.1350	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.950|3.950	-0.012430|-0.012430	0.07727|0.07727	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;D|.	0.84944|.	-1.48;-1.48;-1.28;-1.92|.	5.3|5.3	-7.84|-7.84	0.01196|0.01196	.|.	0.923976|.	0.09337|.	N|.	0.816066|.	T|T	0.23094|0.23094	0.0558|0.0558	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.13407|.	0.002;0.009;0.002|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.18710|.	T|.	0.47|.	-3.9896|-3.9896	8.6628|8.6628	0.34103|0.34103	0.1446:0.0976:0.605:0.1528|0.1446:0.0976:0.605:0.1528	.|.	194;409;450|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	N|S	409;409;450;194|216	ENSP00000360691:K409N;ENSP00000307732:K409N;ENSP00000360690:K450N;ENSP00000408894:K194N|.	ENSP00000307732:K409N|.	K|T	+|+	3|1	2|0	LONRF3|LONRF3	118008486|118008486	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-0.130000|-0.130000	0.10498|0.10498	-1.394000|-1.394000	0.02077|0.02077	0.486000|0.486000	0.48141|0.48141	AAA|ACC	-	NULL		0.463	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	protein_coding	OTTHUMT00000355124.2	A	NM_024778	-		118124458	1	no_errors	ENST00000371628	ensembl	human	known	74_37	missense	SNP	0.000	T	T	118124458	A	T	118124458	3	4	237	1	0	0	0	0	1	0	0	0	8898	40	2	5	1368	5	LONRF3	23	118124458	Missense_Mutation	SNP	A	TCGA-X6-A8C5-01A-11D-A36J-09	12218960	118124458	37146102	87	19279											
VPS13D	55187	genome.wustl.edu	37	chr1	12382758	12382758	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggtgcatctcgcgttggaGaggaaatcagagaagggaca	15	7	2	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:12382758G>T	ENST00000358136.3	+	34	8000	c.7870G>T	c.(7870-7872)Gag>Tag	p.E2624*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E2624*	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)		TCGCGTTGGAGAGGAAATCAG	0.478																																																	0								ENSG00000048707						93	93	93					1																	12382758		2203	4300	6503	VPS13D	SO:0001587	stop_gained	0			-	HGNC	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.7870G>T	1.37:g.12382758G>T	ENSP00000350854:p.Glu2624*	Somatic	0	92	0		0.495611309271502	9	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Nonsense_Mutation	SNP							pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E2624*	ENST00000358136.3	37	c.7870	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.431406|16.431406	0.99863|0.99863	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.572368|0.572368	0.15411|0.15411	N|N	0.263763|0.263763	T|.	0.64800|.	0.2631|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54629|.	-0.8265|.	5|.	.|0.11794	.|T	.|0.64	.|.	20.1802|20.1802	0.98196|0.98196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	1446|2624	.|.	.|ENSP00000348666:E2624X	E|E	+|+	3|1	2|0	VPS13D|VPS13D	12305345|12305345	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.913000|0.913000	0.54294|0.54294	3.717000|3.717000	0.54911|0.54911	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GAG|GAG	-	superfamily_UBA-like		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	G	NM_015378	-		12382758	1	no_errors	ENST00000358136	ensembl	human	known	74_37	nonsense	SNP	0.994	T	T	12382758	G	T	12382758	4	4	238	1	0	0	0	0	0	1	0	0	17199	943	33	3	8000	3	VPS13D	1	12382758	Nonsense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		12382758	236867863	1	19280											
AGMAT	79814	genome.wustl.edu	37	chr1	15905439	15905439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcttacagtccaggagaCcctcatccacacaccggcgg	9	17	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:15905439C>T	ENST00000375826.3	-	4	777	c.635G>A	c.(634-636)gGt>gAt	p.G212D	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	212					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCAGGAGACCCTCATCCAC	0.622																																					NSCLC(126;1678 1780 25805 43508 49531)												0								ENSG00000116771						76	73	74					1																	15905439		2203	4300	6503	AGMAT	SO:0001583	missense	0			-	HGNC	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.635G>A	1.37:g.15905439C>T	ENSP00000364986:p.Gly212Asp	Somatic	0	57	0		0.495611309271502	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q5TDH1|Q9H5J3	Missense_Mutation	SNP							pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.G212D	ENST00000375826.3	37	c.635	CCDS160.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235476	0.79800	.	.	ENSG00000116771	ENST00000375826	T	0.37411	1.2	5.87	4.96	0.65561	Ureohydrolase domain (1);	0.094270	0.64402	D	0.000001	T	0.53948	0.1828	M	0.87827	2.91	0.80722	D	1	B	0.28850	0.225	B	0.41202	0.35	T	0.59231	-0.7493	10	0.62326	D	0.03	-6.7422	13.8011	0.63202	0.0:0.9263:0.0:0.0737	.	212	Q9BSE5	SPEB_HUMAN	D	212	ENSP00000364986:G212D	ENSP00000364986:G212D	G	-	2	0	AGMAT	15778026	1.000000	0.71417	0.958000	0.39756	0.958000	0.62258	5.324000	0.65863	1.497000	0.48584	0.650000	0.86243	GGT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel		0.622	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	protein_coding	OTTHUMT00000006763.1	C	NM_024758	-		15905439	-1	no_errors	ENST00000375826	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15905439	C	T	15905439	3	4	238	1	0	0	0	0	1	0	0	0	385	507	18	2	439	2	AGMAT	1	15905439	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	3522681	15905439	233345182	2	19281											
TAS1R2	80834	genome.wustl.edu	37	chr1	19186142	19186142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaggagatggtctttgCcctgggccccatggctggga	17	10	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:19186142C>T	ENST00000375371.3	-	1	34	c.13G>A	c.(13-15)Gca>Aca	p.A5T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	5					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATGGTCTTTGCCCTGGGCCCC	0.567																																																	0								ENSG00000179002						103	97	99					1																	19186142		2203	4300	6503	TAS1R2	SO:0001583	missense	0			-	HGNC		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.13G>A	1.37:g.19186142C>T	ENSP00000364520:p.Ala5Thr	Somatic	0	92	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5TZ19	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.A5T	ENST00000375371.3	37	c.13	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	c	10.79	1.450289	0.26074	.	.	ENSG00000179002	ENST00000375371	D	0.88896	-2.44	3.4	0.23	0.15372	.	.	.	.	.	T	0.81931	0.4927	L	0.47716	1.5	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.66048	-0.6020	9	0.30078	T	0.28	.	5.1895	0.15203	0.0:0.4583:0.4183:0.1233	.	5	Q8TE23	TS1R2_HUMAN	T	5	ENSP00000364520:A5T	ENSP00000364520:A5T	A	-	1	0	TAS1R2	19058729	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.075000	0.11431	0.061000	0.16311	0.306000	0.20318	GCA	-	NULL		0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	protein_coding	OTTHUMT00000006953.1	C		-		19186142	-1	no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	SNP	0.000	T	T	19186142	C	T	19186142	3	4	238	1	0	0	0	0	1	0	0	0	15570	739	26	2	2530	2	TAS1R2	1	19186142	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	3280703	19186142	230064479	3	19282											
ZCCHC17	51538	genome.wustl.edu	37	chr1	31836898	31836899	+	Frame_Shift_Del	DEL	AT	AT	-													ggagaagaagaaaaagaaacAtagagataggaagtcatctg							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:31836898_31836899delAT	ENST00000373714.1	+	8	845_846	c.584_585delAT	c.(583-585)catfs	p.H195fs	ZCCHC17_ENST00000422613.2_Frame_Shift_Del_p.H197fs|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000546109.1_Frame_Shift_Del_p.H187fs|ZCCHC17_ENST00000344147.5_Frame_Shift_Del_p.H195fs	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	195	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AAAAAGAAACATAGAGATAGGA	0.391																																																	0								ENSG00000121766																																			ZCCHC17	SO:0001589	frameshift_variant	0				HGNC	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.584_585delAT	1.37:g.31836898_31836899delAT	ENSP00000362819:p.His195fs	Somatic	0	26	0		0.495611309271502	103	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Frame_Shift_Del	DEL							pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.H197fs	ENST00000373714.1	37	c.590_591	CCDS341.1	1																																																																																			-	NULL		0.391	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC17	protein_coding	OTTHUMT00000010665.1	AT	NM_016505			31836899	1	no_errors	ENST00000422613	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.988	-	-	31836899	AT	-	31836898	7	5	238	1	0	1	0	1	0	0	0	0	17592	217	8	0	610	0	ZCCHC17	1	31836898	Frame_Shift_Del	DEL	AT	TCGA-X6-A8C6-01A-11D-A36J-09	12650756	31836898	217413723	4	19283											
IL12RB2	3595	genome.wustl.edu	37	chr1	67793870	67793882	+	Splice_Site	DEL	GTTTTGTTTACAG	GTTTTGTTTACAG	-													atgttgctacacgtggttgtGttttgtttacaggctaagtg							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	GTTTTGTTTACAG	GTTTTGTTTACAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:67793870_67793882delGTTTTGTTTACAG	ENST00000262345.1	+	5	1119		c.e5-1		IL12RB2_ENST00000371000.1_Splice_Site|IL12RB2_ENST00000544434.1_Splice_Site|IL12RB2_ENST00000541374.1_Splice_Site	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACGTGGTTGTGTTTTGTTTACAGGCTAAGTGGA	0.333																																																	0								ENSG00000081985																																			IL12RB2	SO:0001630	splice_region_variant	0				HGNC	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.480-1GTTTTGTTTACAG>-	1.37:g.67793870_67793882delGTTTTGTTTACAG		Somatic					0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1				B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Splice_Site	DEL							-	e4-1	ENST00000262345.1	37	c.480-13_480-1	CCDS638.1	1																																																																																			-	-		0.333	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	protein_coding	OTTHUMT00000025202.2	GTTTTGTTTACAG	NM_001559		Intron	67793882	1	no_errors	ENST00000262345	ensembl	human	known	74_37	splice_site_del	DEL	0.000:0.011:0.007:0.001:0.000:0.000:0.008:0.023:0.015:0.009:0.017:0.973:0.993	-	-	67793882	GTTTTGTTTACAG	-	67793870	8	5	238	1	0	1	0	1	0	0	1	0	7629	1392	48	0		0	IL12RB2	1	67793870	Splice_Site	DEL	GTTTTGTTTACAG	TCGA-X6-A8C6-01A-11D-A36J-09	35956972	67793870	181456751	5	19284											
LAMC1	3915	genome.wustl.edu	37	chr1	183086705	183086705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgttgagttatggtcAgaacctctccttctcctttc	9	11	3	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:183086705A>G	ENST00000258341.4	+	10	1981	c.1724A>G	c.(1723-1725)cAg>cGg	p.Q575R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	575	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)			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						AGTTATGGTCAGAACCTCTCC	0.502																																																	0								ENSG00000135862						153	136	142					1																	183086705		2203	4300	6503	LAMC1	SO:0001583	missense	0			-	HGNC	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.1724A>G	1.37:g.183086705A>G	ENSP00000258341:p.Gln575Arg	Somatic	0	70	0		0.495611309271502	299	0.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q5VYE7	Missense_Mutation	SNP							pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q575R	ENST00000258341.4	37	c.1724	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294544	0.81025	.	.	ENSG00000135862	ENST00000258341	T	0.35048	1.33	5.14	5.14	0.70334	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53358	-0.8450	10	0.06494	T	0.89	.	14.9568	0.71120	1.0:0.0:0.0:0.0	.	575	P11047	LAMC1_HUMAN	R	575	ENSP00000258341:Q575R	ENSP00000258341:Q575R	Q	+	2	0	LAMC1	181353328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.599000	0.90856	1.933000	0.56026	0.533000	0.62120	CAG	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.502	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	A	NM_002293	-		183086705	1	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	SNP	1.000	G	G	183086705	A	G	183086705	3	3	238	1	0	0	0	0	1	0	0	0	8616	188	7	5	1762	5	LAMC1	1	183086705	Missense_Mutation	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	115292835	183086705	66163916	6	19285											
PRSS38	339501	genome.wustl.edu	37	chr1	228005164	228005164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgctgggctacgggatgggGactagtctcaaaacaaggta	14	7	1	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:228005164G>T	ENST00000366757.3	+	3	590	c.566G>T	c.(565-567)gGa>gTa	p.G189V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACGGGATGGGGACTAGTCTCA	0.527																																																	0								ENSG00000185888						77	71	73					1																	228005164		2203	4300	6503	PRSS38	SO:0001583	missense	0			-	HGNC		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.566G>T	1.37:g.228005164G>T	ENSP00000355719:p.Gly189Val	Somatic	0	69	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.12	Q7RTY6	Missense_Mutation	SNP							pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G189V	ENST00000366757.3	37	c.566	CCDS1563.1	1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207795	0.39003	.	.	ENSG00000185888	ENST00000366757	D	0.94046	-3.34	4.34	4.34	0.51931	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43260	D	0.000596	D	0.97901	0.9310	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98029	1.0375	10	0.87932	D	0	.	12.6715	0.56870	0.0:0.0:1.0:0.0	.	189	A1L453	PRS38_HUMAN	V	189	ENSP00000355719:G189V	ENSP00000355719:G189V	G	+	2	0	PRSS38	226071787	1.000000	0.71417	0.972000	0.41901	0.026000	0.11368	4.558000	0.60789	2.712000	0.92718	0.655000	0.94253	GGA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.527	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	protein_coding	OTTHUMT00000091981.1	G	NM_183062	-		228005164	1	no_errors	ENST00000366757	ensembl	human	known	74_37	missense	SNP	0.986	T	T	228005164	G	T	228005164	3	4	238	1	0	0	0	0	1	0	0	0	12632	1174	41	3	576	3	PRSS38	1	228005164	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	44918459	228005164	21245457	7	19286											
RYR2	6262	genome.wustl.edu	37	chr1	237817712	237817712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgatgccctgtctcaaAaggtaatttaatggtttgtg	9	5	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:237817712A>G	ENST00000366574.2	+	52	8280	c.7963A>G	c.(7963-7965)Aag>Gag	p.K2655E	RYR2_ENST00000542537.1_Missense_Mutation_p.K2639E|RYR2_ENST00000360064.6_Missense_Mutation_p.K2653E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2655	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGTCTCAAAAGGTAATTTA	0.393																																																	0								ENSG00000198626						77	75	76					1																	237817712		1832	4085	5917	RYR2	SO:0001583	missense	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7963A>G	1.37:g.237817712A>G	ENSP00000355533:p.Lys2655Glu	Somatic	0	127	0		0.495611309271502	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.K2653E	ENST00000366574.2	37	c.7957	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591359	0.86851	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94280	-3.39;-3.39;-3.39	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000003	D	0.95921	0.8672	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.96197	0.9142	10	0.66056	D	0.02	-20.4917	16.2322	0.82352	1.0:0.0:0.0:0.0	.	2655	Q92736	RYR2_HUMAN	E	2655;2653;2639	ENSP00000355533:K2655E;ENSP00000353174:K2653E;ENSP00000443798:K2639E	ENSP00000353174:K2653E	K	+	1	0	RYR2	235884335	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.273000	0.78527	2.288000	0.76882	0.528000	0.53228	AAG	-	NULL		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	A	NM_001035	-		237817712	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	G	G	237817712	A	G	237817712	3	3	238	1	0	0	0	0	1	0	0	0	13777	15	1	5	8169	5	RYR2	1	237817712	Missense_Mutation	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	9812548	237817712	11432909	8	19287											
OR11L1	391189	genome.wustl.edu	37	chr1	248004931	248004931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagaaggagatggcttGgccccaggacagcaggttgg	18	8	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr1:248004931G>T	ENST00000355784.2	-	1	323	c.268C>A	c.(268-270)Caa>Aaa	p.Q90K		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	90						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGATGGCTTGGCCCCAGGAC	0.567																																																	0								ENSG00000197591						68	57	61					1																	248004931		2203	4300	6503	OR11L1	SO:0001583	missense	0			-	HGNC	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.268C>A	1.37:g.248004931G>T	ENSP00000348033:p.Gln90Lys	Somatic	0	106	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16		Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q90K	ENST00000355784.2	37	c.268	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.097489	0.00360	.	.	ENSG00000197591	ENST00000355784	T	0.35421	1.31	4.2	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.945895	0.08537	U	0.931110	T	0.13286	0.0322	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37267	-0.9713	10	0.02654	T	1	.	5.2718	0.15628	0.1036:0.0:0.5457:0.3507	.	90	Q8NGX0	O11L1_HUMAN	K	90	ENSP00000348033:Q90K	ENSP00000348033:Q90K	Q	-	1	0	OR11L1	246071554	0.000000	0.05858	0.015000	0.15790	0.296000	0.27459	-0.222000	0.09190	2.331000	0.79229	0.543000	0.68304	CAA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.567	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	protein_coding	OTTHUMT00000096850.1	G	NM_001001959	-		248004931	-1	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	SNP	0.001	T	T	248004931	G	T	248004931	3	4	238	1	0	0	0	0	1	0	0	0	10932	1357	47	3	704	3	OR11L1	1	248004931	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	10187219	248004931	1245690	9	19288											
RGPD4	285190	genome.wustl.edu	37	chr2	108487751	108487751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcaatggcaaaccaagAatgctgatgcgaagagaaca	12	7	1	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr2:108487751A>G	ENST00000408999.3	+	20	3368	c.3291A>G	c.(3289-3291)agA>agG	p.R1097R	RGPD4_ENST00000354986.4_Silent_p.R1097R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1097	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAAACCAAGAATGCTGATGC	0.418																																																	0								ENSG00000196862						18	13	15					2																	108487751		691	1576	2267	RGPD4	SO:0001819	synonymous_variant	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3291A>G	2.37:g.108487751A>G		Somatic	0	397	0		0.495611309271502	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	258	12.24	B9A029	Silent	SNP							pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R1097	ENST00000408999.3	37	c.3291	CCDS46381.1	2																																																																																			-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.418	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	A	XM_496581	-		108487751	1	no_errors	ENST00000354986	ensembl	human	known	74_37	silent	SNP	0.994	G	G	108487751	A	G	108487751	2	3	238	1	0	0	0	0	0	0	0	1	13296	243	9	5		5	RGPD4	2	108487751	Silent	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09		108487751	134711622	10	19289											
RBM15B	29890	genome.wustl.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	CCA	CCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																																	0								ENSG00000179837																																			RBM15B	SO:0001651	inframe_deletion	0				HGNC	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del	Somatic	0	31	0		0.495611309271502	174	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL							pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.H668in_frame_del	ENST00000323686.4	37	c.1992_1994	CCDS33764.1	3																																																																																			-	NULL		0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM15B	protein_coding	OTTHUMT00000346489.1	CCA	NM_013286			51430824	1	no_errors	ENST00000323686	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.998	-	-	51430824	CCA	-	51430822	7	5	238	1	0	1	0	1	0	0	0	0	13125	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-X6-A8C6-01A-11D-A36J-09		51430822	146591608	11	19290											
ZXDC	79364	genome.wustl.edu	37	chr3	126194056	126194056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtaggacgttgtgaagGcccaaccacagccctccagt	11	13	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:126194056G>A	ENST00000389709.3	-	1	706	c.653C>T	c.(652-654)gCc>gTc	p.A218V	ZXDC_ENST00000336332.5_Missense_Mutation_p.A218V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	218					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CGTTGTGAAGGCCCAACCACA	0.652																																																	0								ENSG00000070476						19	23	21					3																	126194056		2149	4253	6402	ZXDC	SO:0001583	missense	0			-	HGNC	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.653C>T	3.37:g.126194056G>A	ENSP00000374359:p.Ala218Val	Somatic	0	50	0		0.495611309271502	15	28.57	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	23.08	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A218V	ENST00000389709.3	37	c.653	CCDS43145.1	3	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901123	0.92035	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.49432	0.78;0.78	3.81	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.158061	0.42172	U	0.000746	T	0.57315	0.2045	L	0.41961	1.31	0.43218	D	0.995096	D;D	0.69078	0.996;0.997	P;D	0.64321	0.876;0.924	T	0.61987	-0.6949	10	0.72032	D	0.01	-16.5457	13.5851	0.61926	0.0:0.0:1.0:0.0	.	218;218	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	V	218	ENSP00000374359:A218V;ENSP00000337694:A218V	ENSP00000337694:A218V	A	-	2	0	ZXDC	127676746	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.480000	0.60243	1.847000	0.53656	0.485000	0.47835	GCC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	protein_coding	OTTHUMT00000370327.2	G	NM_025112	-		126194056	-1	no_errors	ENST00000389709	ensembl	human	known	74_37	missense	SNP	1.000	A	A	126194056	G	A	126194056	3	1	238	1	0	0	0	0	1	0	0	0	18259	1203	42	2	1969	2	ZXDC	3	126194056	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	74763234	126194056	71828374	12	19291											
ASTE1	28990	genome.wustl.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T													ggtattctgtttcttctgccINStttttttttttgaatttgat							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000328560.8_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)						ENSG00000034533																																			ASTE1	SO:0001589	frameshift_variant	0				HGNC	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.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs	Somatic	0	49	0		0.495611309271502	37	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS							pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			-	NULL		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	-	NM_014065			130733047	-1	no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_ins	INS	0.003:0.014	T	T	130733047	-	T	130733046	7	5	238	1	0	1	1	0	0	0	0	0	1062	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-X6-A8C6-01A-11D-A36J-09	4538990	130733046	67289384	13	19292											
RBP2	5948	genome.wustl.edu	37	chr3	139173627	139173627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcggttctccttctcccCcttttgcacacacacaagga	7	17	2	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:139173627C>T	ENST00000232217.2	-	3	354	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000510068.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	100					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TCCTTCTCCCCCTTTTGCACA	0.517																																																	0								ENSG00000114113						238	204	215					3																	139173627		2203	4300	6503	RBP2	SO:0001583	missense	0			-	HGNC	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"Fatty acid binding protein family"	9920	protein-coding gene	gene with protein product		180280	"retinol-binding protein 2, cellular"			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.298G>A	3.37:g.139173627C>T	ENSP00000232217:p.Gly100Arg	Somatic	0	102	0		0.495611309271502	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP							pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.G100R	ENST00000232217.2	37	c.298	CCDS3109.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008463	0.93346	.	.	ENSG00000114113	ENST00000232217;ENST00000511956	T;T	0.08193	3.12;3.12	5.0	5.0	0.66597	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.19031	-1.0318	10	0.13108	T	0.6	.	18.6877	0.91571	0.0:1.0:0.0:0.0	.	100	P50120	RET2_HUMAN	R	100	ENSP00000232217:G100R;ENSP00000424333:G100R	ENSP00000232217:G100R	G	-	1	0	RBP2	140656317	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.689000	0.84165	2.477000	0.83638	0.563000	0.77884	GGG	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.517	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP2	protein_coding	OTTHUMT00000358490.1	C	NM_004164	-		139173627	-1	no_errors	ENST00000232217	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139173627	C	T	139173627	3	4	238	1	0	0	0	0	1	0	0	0	13164	623	22	2	114	2	RBP2	3	139173627	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	8440581	139173627	58848803	14	19293											
PFN2	5217	genome.wustl.edu	37	chr3	149688614	149688614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccatcgcacatcagGttatccacgtagctctgcca	8	15	2	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:149688614G>T	ENST00000239940.7	-	1	282	c.30C>A	c.(28-30)aaC>aaA	p.N10K	PFN2_ENST00000489155.1_Intron|PFN2_ENST00000461930.1_Missense_Mutation_p.N10K|PFN2_ENST00000481767.1_5'Flank|PFN2_ENST00000452853.2_Missense_Mutation_p.N10K|PFN2_ENST00000490975.1_Missense_Mutation_p.N10K|PFN2_ENST00000423691.2_Missense_Mutation_p.N10K|PFN2_ENST00000461868.1_Missense_Mutation_p.N10K|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000481275.1_5'Flank|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Intron|PFN2_ENST00000475518.1_5'Flank|PFN2_ENST00000498307.1_Intron			P35080	PROF2_HUMAN	profilin 2	10					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCACATCAGGTTATCCACGT	0.672																																																	0								ENSG00000070087						19	17	18					3																	149688614		1992	3902	5894	PFN2	SO:0001583	missense	0			-	HGNC	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.30C>A	3.37:g.149688614G>T	ENSP00000239940:p.Asn10Lys	Somatic	0	45	0		0.495611309271502	256	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.33	B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP							pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates,prints_Profilin_eukaryotes/bac	p.N10K	ENST00000239940.7	37	c.30	CCDS3148.1	3	.	.	.	.	.	.	.	.	.	.	.	20.6	4.020937	0.75275	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000490975;ENST00000461930;ENST00000461868	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	3.28	3.28	0.37604	.	0.171785	0.48767	U	0.000172	D	0.90239	0.6948	M	0.66939	2.045	0.50813	D	0.999899	D;D;D	0.76494	0.987;0.999;0.965	P;P;P	0.62560	0.727;0.904;0.52	D	0.89987	0.4105	10	0.56958	D	0.05	.	9.9994	0.41920	0.0:0.2081:0.7919:0.0	.	10;204;10	G5E9Q6;D3DNI2;P35080	.;.;PROF2_HUMAN	K	10	ENSP00000410464:N10K;ENSP00000239940:N10K;ENSP00000408283:N10K;ENSP00000417351:N10K;ENSP00000417912:N10K;ENSP00000420244:N10K	ENSP00000239940:N10K	N	-	3	2	PFN2	151171304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.416000	0.52707	1.537000	0.49254	0.460000	0.39030	AAC	-	pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates,prints_Profilin_eukaryotes/bac		0.672	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PFN2	protein_coding	OTTHUMT00000356873.2	G	NM_002628	-		149688614	-1	no_errors	ENST00000239940	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149688614	G	T	149688614	3	4	238	1	0	0	0	0	1	0	0	0	11770	1252	44	3	506	3	PFN2	3	149688614	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	10514987	149688614	48333816	15	19294											
LEKR1	389170	genome.wustl.edu	37	chr3	156645279	156645279	+	5'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcattacttacttttactAaaagggaactaaccagtatt	4	7	1	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:156645279A>G	ENST00000470811.1	+	0	559				LEKR1_ENST00000356539.4_Missense_Mutation_p.K149E|LEKR1_ENST00000489350.1_Intron			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACTTTTACTAAAAGGGAACT	0.259																																																	0								ENSG00000197980						26	25	25					3																	156645279		689	1541	2230	LEKR1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-777A>G	3.37:g.156645279A>G		Somatic	0	345	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	172	12.69		Missense_Mutation	SNP							superfamily_Ribosomal_L29	p.K149E	ENST00000470811.1	37	c.445		3	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507101	0.64410	.	.	ENSG00000178110	ENST00000356539	T	0.55760	0.5	5.28	5.28	0.74379	.	.	.	.	.	T	0.30417	0.0764	.	.	.	0.21697	N	0.999585	.	.	.	.	.	.	T	0.12967	-1.0527	6	0.06494	T	0.89	.	11.6127	0.51069	1.0:0.0:0.0:0.0	.	.	.	.	E	149	ENSP00000348936:K149E	ENSP00000348936:K149E	K	+	1	0	LEKR1	158127973	1.000000	0.71417	0.995000	0.50966	0.670000	0.39368	4.784000	0.62411	1.977000	0.57605	0.533000	0.62120	AAA	-	NULL		0.259	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	protein_coding	OTTHUMT00000351625.3	A	NM_001004316	-		156645279	1	no_errors	ENST00000356539	ensembl	human	known	74_37	missense	SNP	0.993	G	G	156645279	A	G	156645279	1	3	238	0	1	0	0	0	0	0	0	0	8719	363	13	5		5	LEKR1	3	156645279	5'UTR	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	6956665	156645279	41377151	16	19295											
ZBBX	79740	genome.wustl.edu	37	chr3	167031854	167031854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaacatgatgttgatggAtgccattttcatatggaaag	10	5	1	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:167031854A>G	ENST00000392766.2	-	16	1665	c.1325T>C	c.(1324-1326)aTc>aCc	p.I442T	ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392764.1_Missense_Mutation_p.I413T|ZBBX_ENST00000455345.2_Missense_Mutation_p.I442T|ZBBX_ENST00000307529.5_Missense_Mutation_p.I442T|ZBBX_ENST00000392767.2_Missense_Mutation_p.I442T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	442						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATGTTGATGGATGCCATTTTC	0.299																																																	0								ENSG00000169064						110	103	105					3																	167031854		1829	4077	5906	ZBBX	SO:0001583	missense	0			-	HGNC	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1325T>C	3.37:g.167031854A>G	ENSP00000376519:p.Ile442Thr	Somatic	0	107	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP							pfam_Znf_B-box	p.I442T	ENST00000392766.2	37	c.1325	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	A	3.544	-0.093100	0.07053	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11169	2.97;2.97;2.98;2.98;2.8	5.29	1.21	0.21127	.	0.422163	0.22442	N	0.060001	T	0.09818	0.0241	L	0.59436	1.845	0.09310	N	1	B;B	0.27882	0.192;0.121	B;B	0.30105	0.111;0.051	T	0.28332	-1.0047	10	0.87932	D	0	-0.6485	1.8076	0.03084	0.5693:0.1727:0.0917:0.1662	.	442;442	A8MT70-2;A8MT70	.;ZBBX_HUMAN	T	442;442;442;442;413	ENSP00000376519:I442T;ENSP00000376520:I442T;ENSP00000390232:I442T;ENSP00000305065:I442T;ENSP00000376517:I413T	ENSP00000305065:I442T	I	-	2	0	ZBBX	168514548	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.651000	0.24873	0.379000	0.24794	-0.256000	0.11100	ATC	-	NULL		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	protein_coding	OTTHUMT00000257657.3	A	NM_024687	-		167031854	-1	no_errors	ENST00000307529	ensembl	human	known	74_37	missense	SNP	0.000	G	G	167031854	A	G	167031854	3	3	238	1	0	0	0	0	1	0	0	0	17523	333	12	5	1101	5	ZBBX	3	167031854	Missense_Mutation	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	10386575	167031854	30990576	17	19296											
USP13	8975	genome.wustl.edu	37	chr3	179439296	179439296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtatggtcctggctacaCgggtctgaagaacctgggca	13	9	1	2	rs200851300		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:179439296C>T	ENST00000263966.3	+	8	1478	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.T271M	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	336	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CCTGGCTACACGGGTCTGAAG	0.537																																																	0								ENSG00000058056						128	109	115					3																	179439296		2203	4300	6503	USP13	SO:0001583	missense	0			-	HGNC	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1007C>T	3.37:g.179439296C>T	ENSP00000263966:p.Thr336Met	Somatic	0	115	0		0.495611309271502	16	11.11	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.T336M	ENST00000263966.3	37	c.1007	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373022	0.82573	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.75260	-0.92;-0.92	6.06	6.06	0.98353	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90759	0.4663	10	0.72032	D	0.01	-19.2794	20.6227	0.99507	0.0:1.0:0.0:0.0	.	336;336	Q92995;A8K2S3	UBP13_HUMAN;.	M	336;271	ENSP00000263966:T336M;ENSP00000417146:T271M	ENSP00000263966:T336M	T	+	2	0	USP13	180921990	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	7.776000	0.85560	2.885000	0.99019	0.643000	0.83706	ACG	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67		0.537	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	protein_coding	OTTHUMT00000349617.1	C		rs200851300		179439296	1	no_errors	ENST00000263966	ensembl	human	known	74_37	missense	SNP	1.000	T	T	179439296	C	T	179439296	3	4	238	1	0	0	0	0	1	0	0	0	17051	536	19	1	1037	1	USP13	3	179439296	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	12407442	179439296	18583134	18	19297											
PEX5L	51555	genome.wustl.edu	37	chr3	179529607	179529607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctctggagggcgacaataGctgcttgttcattttcattc	9	10	3	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr3:179529607G>C	ENST00000467460.1	-	11	1466	c.1136C>G	c.(1135-1137)gCt>gGt	p.A379G	PEX5L_ENST00000485199.1_Missense_Mutation_p.A344G|PEX5L_ENST00000468741.1_Missense_Mutation_p.A187G|PEX5L_ENST00000472994.1_Missense_Mutation_p.A320G|PEX5L_ENST00000476138.1_Missense_Mutation_p.A336G|PEX5L_ENST00000263962.8_Missense_Mutation_p.A377G|PEX5L_ENST00000465751.1_Missense_Mutation_p.A355G|PEX5L_ENST00000464614.1_Missense_Mutation_p.A271G|PEX5L_ENST00000392649.3_Missense_Mutation_p.A271G|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	379					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GGCGACAATAGCTGCTTGTTC	0.428																																																	0								ENSG00000114757						194	183	186					3																	179529607		2203	4300	6503	PEX5L	SO:0001583	missense	0			-	HGNC	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1136C>G	3.37:g.179529607G>C	ENSP00000419975:p.Ala379Gly	Somatic	0	103	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	67	9.46	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP							pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A379G	ENST00000467460.1	37	c.1136	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212334	0.79240	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.41	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.113080	0.64402	D	0.000011	D	0.96617	0.8896	M	0.65975	2.015	0.80722	D	1	P;P;P;D;D;D	0.76494	0.665;0.527;0.948;0.999;0.997;0.999	B;B;P;D;D;D	0.80764	0.328;0.328;0.872;0.99;0.986;0.994	D	0.96850	0.9624	10	0.59425	D	0.04	-12.7572	16.1922	0.82000	0.0:0.1335:0.8665:0.0	.	320;355;271;377;344;379	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	G	379;377;344;377;271;187;336;267;320;271;355	ENSP00000419975:A379G;ENSP00000263962:A377G;ENSP00000418440:A344G;ENSP00000376420:A271G;ENSP00000418665:A187G;ENSP00000420555:A336G;ENSP00000418054:A320G;ENSP00000417270:A271G;ENSP00000419348:A355G	ENSP00000263962:A377G	A	-	2	0	PEX5L	181012301	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.813000	0.99286	1.357000	0.45904	0.650000	0.86243	GCT	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.428	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	protein_coding	OTTHUMT00000348577.1	G	NM_016559	-		179529607	-1	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	SNP	1.000	C	C	179529607	G	C	179529607	3	2	238	1	0	0	0	0	1	0	0	0	11751	971	34	4	764	4	PEX5L	3	179529607	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	90311	179529607	18492823	19	19298											
SH3TC1	54436	genome.wustl.edu	37	chr4	8221200	8221200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgggccgacacgcagcctCgggccgggtggggtttgtgc	19	12	0	0	rs141671122	byFrequency	TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:8221200C>T	ENST00000245105.3	+	9	1122	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.S276L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	352	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CACGCAGCCTCGGGCCGGGTG	0.692													C|||	3	0.000599042	0	0	5008	,	,		13848	0		0	False		,,,				2504	0.0031				NSCLC(145;2298 2623 35616 37297)												0								ENSG00000125089	C	LEU/SER	1,4401		0,1,2200	27	32	30		1055	3.3	0.1	4	dbSNP_134	30	18,8578	11.9+/-42.8	0,18,4280	no	missense	SH3TC1	NM_018986.3	145	0,19,6480	TT,TC,CC		0.2094,0.0227,0.1462	probably-damaging	352/1337	8221200	19,12979	2201	4298	6499	SH3TC1	SO:0001583	missense	0			-	HGNC	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1055C>T	4.37:g.8221200C>T	ENSP00000245105:p.Ser352Leu	Somatic	0	274	0		0.495611309271502	29	6.45	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	154	10.92	Q4W5G5	Missense_Mutation	SNP							superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.S352L	ENST00000245105.3	37	c.1055	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732513	0.48939	2.27E-4	0.002094	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.18174	2.23;2.23	4.21	3.34	0.38264	Src homology-3 domain (3);	0.077169	0.50627	D	0.000116	T	0.33352	0.0860	M	0.64404	1.975	0.09310	N	1	D	0.69078	0.997	P	0.62014	0.897	T	0.08391	-1.0724	10	0.87932	D	0	-7.5929	11.1969	0.48717	0.0:0.8138:0.1862:0.0	.	352	Q8TE82	S3TC1_HUMAN	L	90;352;276;181	ENSP00000245105:S352L;ENSP00000441045:S276L	ENSP00000245105:S352L	S	+	2	0	SH3TC1	8272100	0.996000	0.38824	0.113000	0.21522	0.288000	0.27193	5.249000	0.65427	0.716000	0.32124	0.491000	0.48974	TCG	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	C	NM_018986	rs141671122		8221200	1	no_errors	ENST00000245105	ensembl	human	known	74_37	missense	SNP	0.025	T	T	8221200	C	T	8221200	3	4	238	1	0	0	0	0	1	0	0	0	14269	893	31	1	1085	1	SH3TC1	4	8221200	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		8221200	182933076	20	19299											
BST1	683	genome.wustl.edu	37	chr4	15733416	15733416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttatacagaacaaagggCgggtcttatcattcccctct	7	11	4	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:15733416C>T	ENST00000265016.4	+	9	1100	c.905C>T	c.(904-906)gCg>gTg	p.A302V	BST1_ENST00000382346.3_Missense_Mutation_p.A317V	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	302					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GAACAAAGGGCGGGTCTTATC	0.493																																																	0								ENSG00000109743						54	55	55					4																	15733416		2203	4300	6503	BST1	SO:0001583	missense	0			-	HGNC	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"CD molecules"	1118	protein-coding gene	gene with protein product	"NAD(+) nucleosidase", "ADP-ribosyl cyclase 2"	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.905C>T	4.37:g.15733416C>T	ENSP00000265016:p.Ala302Val	Somatic	0	115	0		0.495611309271502	43	17.31	9	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	72	8.86	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP							pfam_ADP-ribosyl_cyclase	p.A302V	ENST00000265016.4	37	c.905	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591886	0.28357	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.13778	2.57;2.56	4.6	-3.02	0.05446	.	0.946365	0.08638	N	0.916012	T	0.07638	0.0192	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36383	-0.9750	10	0.54805	T	0.06	-1.8413	6.5212	0.22277	0.0:0.3984:0.1234:0.4782	.	302	Q10588	BST1_HUMAN	V	302;317	ENSP00000265016:A302V;ENSP00000371783:A317V	ENSP00000265016:A302V	A	+	2	0	BST1	15342514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.582000	0.05814	-0.940000	0.03705	-0.916000	0.02749	GCG	-	NULL		0.493	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	protein_coding	OTTHUMT00000214968.2	C	NM_004334	-		15733416	1	no_errors	ENST00000265016	ensembl	human	known	74_37	missense	SNP	0.000	T	T	15733416	C	T	15733416	3	4	238	1	0	0	0	0	1	0	0	0	1535	768	27	1	939	1	BST1	4	15733416	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	7512216	15733416	175420860	21	19300											
NCAPG	64151	genome.wustl.edu	37	chr4	17839401	17839401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtggattaaatcctcagGccaagacttcccaagattat	7	10	1	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:17839401G>T	ENST00000251496.2	+	16	2619	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	815					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)		AAATCCTCAGGCCAAGACTTC	0.408																																																	0								ENSG00000109805						142	139	140					4																	17839401		2203	4300	6503	NCAPG	SO:0001583	missense	0			-	HGNC	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.2443G>T	4.37:g.17839401G>T	ENSP00000251496:p.Ala815Ser	Somatic	0	66	0		0.495611309271502	59	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.A815S	ENST00000251496.2	37	c.2443	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	6.670	0.492226	0.12702	.	.	ENSG00000109805	ENST00000251496	T	0.39056	1.1	5.25	3.31	0.37934	.	0.341985	0.34507	N	0.003913	T	0.29223	0.0727	L	0.46157	1.445	0.29172	N	0.8771	B	0.06786	0.001	B	0.13407	0.009	T	0.33523	-0.9865	10	0.07482	T	0.82	-1.4526	7.2765	0.26288	0.2818:0.0:0.6062:0.112	.	815	Q9BPX3	CND3_HUMAN	S	815	ENSP00000251496:A815S	ENSP00000251496:A815S	A	+	1	0	NCAPG	17448499	0.001000	0.12720	0.998000	0.56505	0.245000	0.25701	0.720000	0.25896	0.221000	0.20879	-1.094000	0.02160	GCC	-	NULL		0.408	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	protein_coding	OTTHUMT00000250375.1	G	NM_022346	-		17839401	1	no_errors	ENST00000251496	ensembl	human	known	74_37	missense	SNP	0.981	T	T	17839401	G	T	17839401	3	4	238	1	0	0	0	0	1	0	0	0	10209	1203	42	3	2505	3	NCAPG	4	17839401	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	2105985	17839401	173314875	22	19301											
GPR125	166647	genome.wustl.edu	37	chr4	22389640	22389640	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaataagctcttcggctcctCgagtgtccttcgttattgcc	8	12	1	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:22389640C>T	ENST00000334304.5	-	19	3923	c.3654G>A	c.(3652-3654)tcG>tcA	p.S1218S	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1218					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)				TTCGGCTCCTCGAGTGTCCTT	0.522																																																	0								ENSG00000152990						93	86	89					4																	22389640		2203	4300	6503	GPR125	SO:0001819	synonymous_variant	0			-	HGNC	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.3654G>A	4.37:g.22389640C>T		Somatic	0	169	0		0.495611309271502	137	31.5	63	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	90	19.64	Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP							pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.S1218	ENST00000334304.5	37	c.3654	CCDS33964.1	4																																																																																			-	NULL		0.522	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	C		-		22389640	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	silent	SNP	0.000	T	T	22389640	C	T	22389640	2	4	238	1	0	0	0	0	0	0	0	1	6641	871	31	1		1	GPR125	4	22389640	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	4550239	22389640	168764636	23	19302											
TBC1D1	23216	genome.wustl.edu	37	chr4	38119814	38119814	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgtagccagagtctttgGtgagcattagtaaatctgtt	10	6	2	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:38119814G>A	ENST00000261439.4	+	17	3317		c.e17+1		TBC1D1_ENST00000407365.1_Splice_Site|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAGTCTTTGGTGAGCATTAG	0.507																																																	0								ENSG00000065882						96	93	94					4																	38119814		2203	4300	6503	TBC1D1	SO:0001630	splice_region_variant	0			-	HGNC	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2962+1G>A	4.37:g.38119814G>A		Somatic	0	88	0		0.495611309271502	0	100	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Splice_Site	SNP							-	e16+1	ENST00000261439.4	37	c.2962+1	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142256	0.77775	.	.	ENSG00000065882	ENST00000261439;ENST00000454732;ENST00000510573	.	.	.	5.7	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5961	0.68407	0.0698:0.0:0.9302:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D1	37796209	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.277000	0.95755	1.417000	0.47077	0.655000	0.94253	.	-	-		0.507	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	G	NM_015173	-	Intron	38119814	1	no_errors	ENST00000261439	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	38119814	G	A	38119814	5	1	238	1	0	0	0	0	0	0	1	0	15604	1275	44	2	3025	2	TBC1D1	4	38119814	Splice_Site	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	15730174	38119814	153034462	24	19303											
PDS5A	23244	genome.wustl.edu	37	chr4	39900418	39900421	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													tgctatggtcatcagttttcCaaacatggcagaacagttag							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	CAAA	CAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:39900418_39900421delCAAA	ENST00000303538.8	-	15	2145_2148	c.1606_1609delTTTG	c.(1606-1611)tttggafs	p.FG536fs	PDS5A_ENST00000503396.1_Frame_Shift_Del_p.FG536fs	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATCAGTTTTCCAAACATGGCAGAA	0.333																																																	0								ENSG00000121892																																			PDS5A	SO:0001589	frameshift_variant	0				HGNC	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1606_1609delTTTG	4.37:g.39900418_39900421delCAAA	ENSP00000303427:p.Phe536fs	Somatic	0	111	0		0.495611309271502	54	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12		Frame_Shift_Del	DEL							superfamily_ARM-type_fold	p.F536fs	ENST00000303538.8	37	c.1609_1606	CCDS47045.1	4																																																																																			-	superfamily_ARM-type_fold		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	protein_coding	OTTHUMT00000361287.1	CAAA	NM_015200			39900421	-1	no_errors	ENST00000303538	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-	-	39900421	CAAA	-	39900418	7	5	238	1	0	1	0	1	0	0	0	0	11693	603	21	0	2513	0	PDS5A	4	39900418	Frame_Shift_Del	DEL	CAAA	TCGA-X6-A8C6-01A-11D-A36J-09	1780604	39900418	151253858	25	19304											
KDR	3791	genome.wustl.edu	37	chr4	55973922	55973922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgggctcgttggcgcacTcttcctccaactgccaatac	8	16	1	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:55973922T>C	ENST00000263923.4	-	10	1689	c.1394A>G	c.(1393-1395)gAg>gGg	p.E465G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	465	Ig-like C2-type 5.				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)	GTTGGCGCACTCTTCCTCCAA	0.512			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0								ENSG00000128052						185	157	166					4																	55973922		2203	4300	6503	KDR	SO:0001583	missense	0			-	HGNC	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.1394A>G	4.37:g.55973922T>C	ENSP00000263923:p.Glu465Gly	Somatic	0	63	0		0.495611309271502	52	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.E465G	ENST00000263923.4	37	c.1394	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	12.44	1.940070	0.34283	.	.	ENSG00000128052	ENST00000263923	T	0.76839	-1.05	5.19	2.46	0.29980	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.410898	0.26586	N	0.023552	T	0.66458	0.2791	L	0.44542	1.39	0.40364	D	0.979272	P;B	0.38078	0.617;0.149	B;B	0.31101	0.124;0.122	T	0.67142	-0.5745	10	0.45353	T	0.12	.	12.884	0.58032	0.0:0.0:0.2694:0.7306	.	465;465	P35968-2;P35968	.;VGFR2_HUMAN	G	465	ENSP00000263923:E465G	ENSP00000263923:E465G	E	-	2	0	KDR	55668679	1.000000	0.71417	0.167000	0.22817	0.528000	0.34623	3.443000	0.52907	0.768000	0.33290	0.260000	0.18958	GAG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.512	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	T		-		55973922	-1	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	SNP	0.992	C	C	55973922	T	C	55973922	3	2	238	1	0	0	0	0	1	0	0	0	8141	1551	54	5	2760	5	KDR	4	55973922	Missense_Mutation	SNP	T	TCGA-X6-A8C6-01A-11D-A36J-09	16073504	55973922	135180354	26	19305											
TMEM192	201931	genome.wustl.edu	37	chr4	166000894	166000894	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcattgtgtcgcttcagGtattcaatggtgtctccttg	11	9	3	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:166000894G>T	ENST00000306480.6	-	6	877	c.732C>A	c.(730-732)taC>taA	p.Y244*	TMEM192_ENST00000506087.1_Nonsense_Mutation_p.Y240*	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	244						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GTCGCTTCAGGTATTCAATGG	0.443																																																	0								ENSG00000170088						121	114	116					4																	166000894		1908	4134	6042	TMEM192	SO:0001587	stop_gained	0			-	HGNC	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.732C>A	4.37:g.166000894G>T	ENSP00000305069:p.Tyr244*	Somatic	0	98	0		0.495611309271502	20	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q7Z3A1|Q8N928	Nonsense_Mutation	SNP							NULL	p.Y244*	ENST00000306480.6	37	c.732	CCDS43279.1	4	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286430	0.59867	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	2.39	0.29439	.	0.056144	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9584	8.5716	0.33572	0.3125:0.0:0.6875:0.0	.	.	.	.	X	244;240	.	ENSP00000305069:Y244X	Y	-	3	2	TMEM192	166220344	1.000000	0.71417	0.725000	0.30721	0.069000	0.16628	0.640000	0.24705	0.446000	0.26666	-0.218000	0.12543	TAC	-	NULL		0.443	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM192	protein_coding	OTTHUMT00000364310.3	G	NM_152681	-		166000894	-1	no_errors	ENST00000306480	ensembl	human	known	74_37	nonsense	SNP	0.971	T	T	166000894	G	T	166000894	4	4	238	1	0	0	0	0	0	1	0	0	16122	1256	44	3	87	3	TMEM192	4	166000894	Nonsense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	110026972	166000894	25153382	27	19306											
ZFP42	132625	genome.wustl.edu	37	chr4	188924433	188924433	+	Frame_Shift_Del	DEL	C	C	-													agcttccgcctggaggaataCctggcattgacctatcagat					rs143445473		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr4:188924433delC	ENST00000326866.4	+	4	880	c.472delC	c.(472-474)cctfs	p.P158fs	ZFP42_ENST00000509524.1_Frame_Shift_Del_p.P158fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	158					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)		TGGAGGAATACCTGGCATTGA	0.443																																																	0								ENSG00000179059						101	114	110					4																	188924433		2203	4300	6503	ZFP42	SO:0001589	frameshift_variant	0				HGNC	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.472delC	4.37:g.188924433delC	ENSP00000317686:p.Pro158fs	Somatic	0	67	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	D3DP65|Q8WXE2	Frame_Shift_Del	DEL							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P158fs	ENST00000326866.4	37	c.472	CCDS3849.1	4																																																																																			-	NULL		0.443	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	protein_coding	OTTHUMT00000359794.1	C	NM_174900			188924433	1	no_errors	ENST00000326866	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-	-	188924433	C	-	188924433	7	5	238	1	0	1	0	1	0	0	0	0	17657	507	18	0	474	0	ZFP42	4	188924433	Frame_Shift_Del	DEL	C	TCGA-X6-A8C6-01A-11D-A36J-09	22923539	188924433	2229843	28	19307											
CDH12	1010	genome.wustl.edu	37	chr5	21752318	21752318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcttttttcttctgccttCgcagtgctacatacagtaca	6	11	3	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:21752318C>T	ENST00000382254.1	-	15	2999	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH12_ENST00000522262.1_Missense_Mutation_p.R598Q|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.R638Q|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTCTGCCTTCGCAGTGCTAC	0.403										HNSCC(59;0.17)																																							0								ENSG00000154162						80	77	78					5																	21752318		2203	4300	6503	CDH12	SO:0001583	missense	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1913G>A	5.37:g.21752318C>T	ENSP00000371689:p.Arg638Gln	Somatic	0	79	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	55	12.70	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R638Q	ENST00000382254.1	37	c.1913	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283377	0.80803	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	D;D;D	0.86432	-2.12;-2.12;-2.12	5.44	5.44	0.79542	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	M	0.91663	3.23	0.54753	D	0.99998	D;D	0.76494	0.999;0.998	D;D	0.79108	0.988;0.992	D	0.95812	0.8842	10	0.87932	D	0	.	19.2505	0.93923	0.0:1.0:0.0:0.0	.	598;638	B7Z2U6;P55289	.;CAD12_HUMAN	Q	638;638;598	ENSP00000423577:R638Q;ENSP00000371689:R638Q;ENSP00000428786:R598Q	ENSP00000371689:R638Q	R	-	2	0	CDH12	21788075	0.969000	0.33509	0.791000	0.31998	0.589000	0.36550	7.487000	0.81328	2.562000	0.86427	0.591000	0.81541	CGA	-	pfam_Cadherin_cytoplasmic-dom		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	C	NM_004061	-		21752318	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	SNP	0.996	T	T	21752318	C	T	21752318	3	4	238	1	0	0	0	0	1	0	0	0	3100	884	31	1	475	1	CDH12	5	21752318	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		21752318	159162942	29	19308											
PDLIM4	8572	genome.wustl.edu	37	chr5	131607824	131607824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacttctttctggacgagCggctctactgtgagagccac	11	11	3	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:131607824C>T	ENST00000253754.3	+	7	959	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	299	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGACGAGCGGCTCTACTG	0.612																																																	0								ENSG00000131435						97	81	86					5																	131607824		2203	4300	6503	PDLIM4	SO:0001583	missense	0			-	HGNC	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.895C>T	5.37:g.131607824C>T	ENSP00000253754:p.Arg299Trp	Somatic	0	50	0		0.495611309271502	108	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP							pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R299W	ENST00000253754.3	37	c.895	CCDS4152.1	5	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734851	0.48939	.	.	ENSG00000131435	ENST00000253754	D	0.88431	-2.38	5.05	2.82	0.32997	Zinc finger, LIM-type (4);	0.369391	0.27659	N	0.018396	D	0.92286	0.7553	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.92135	0.5715	10	0.87932	D	0	-13.4067	10.3753	0.44079	0.1363:0.7815:0.0:0.0822	.	299	P50479	PDLI4_HUMAN	W	299	ENSP00000253754:R299W	ENSP00000253754:R299W	R	+	1	2	PDLIM4	131635723	1.000000	0.71417	0.440000	0.26846	0.058000	0.15608	2.179000	0.42528	1.053000	0.40415	0.655000	0.94253	CGG	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM4	protein_coding	OTTHUMT00000132644.2	C	NM_003687	-		131607824	1	no_errors	ENST00000253754	ensembl	human	known	74_37	missense	SNP	0.999	T	T	131607824	C	T	131607824	3	4	238	1	0	0	0	0	1	0	0	0	11684	759	27	1	921	1	PDLIM4	5	131607824	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	109855506	131607824	49307436	30	19309											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182250	140182250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgcaggagaacgccctgGtgtcctactcgctggtggaa	14	12	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:140182250G>A	ENST00000522353.2	+	1	1468	c.1468G>A	c.(1468-1470)Gtg>Atg	p.V490M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V490M|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	490	Cadherin 5. {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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCCTGGTGTCCTACTC	0.677																																																	0								ENSG00000255408						83	88	86					5																	140182250		2203	4299	6502	PCDHA3	SO:0001583	missense	0			-	HGNC	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1468G>A	5.37:g.140182250G>A	ENSP00000429808:p.Val490Met	Somatic	0	266	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	96	12.73	O75286	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V490M	ENST00000522353.2	37	c.1468	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	15.74	2.921436	0.52653	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.55760	0.5;0.5	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.37623	U	0.002010	T	0.71710	0.3372	M	0.80746	2.51	0.23994	N	0.996239	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.65043	-0.6264	10	0.87932	D	0	.	11.6726	0.51411	0.0827:0.0:0.9173:0.0	.	490;490	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	490	ENSP00000429808:V490M;ENSP00000434086:V490M	ENSP00000429808:V490M	V	+	1	0	PCDHA3	140162434	0.672000	0.27530	0.970000	0.41538	0.790000	0.44656	0.795000	0.26972	2.374000	0.81015	0.461000	0.40582	GTG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	G	NM_018906	-		140182250	1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	SNP	0.730	A	A	140182250	G	A	140182250	3	1	238	1	0	0	0	0	1	0	0	0	11527	1261	44	2	1470	2	PCDHA3	5	140182250	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	8574426	140182250	40733010	31	19310											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214407	140214407	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatcgcggaatccaggCcgcttgactctcggtttcca	10	13	2	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:140214407C>G	ENST00000525929.1	+	1	439	c.439C>G	c.(439-441)Ccg>Gcg	p.P147A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P147A|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	147	Cadherin 2. {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)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATCCAGGCCGCTTGACTC	0.547																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						62	59	60					5																	140214407		2203	4291	6494	PCDHA7	SO:0001583	missense	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.439C>G	5.37:g.140214407C>G	ENSP00000436426:p.Pro147Ala	Somatic	0	58	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	O75282	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P147A	ENST00000525929.1	37	c.439	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.683554	0.00745	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.54071	0.59;0.59	4.17	1.25	0.21368	Cadherin (3);Cadherin-like (1);	0.974525	0.08254	U	0.974219	T	0.27063	0.0663	N	0.16166	0.38	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.17979	0.015;0.02	T	0.28522	-1.0041	10	0.02654	T	1	.	3.0528	0.06174	0.237:0.4954:0.1162:0.1514	.	147;147	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	A	147	ENSP00000436426:P147A;ENSP00000367365:P147A	ENSP00000367365:P147A	P	+	1	0	PCDHA7	140194591	0.000000	0.05858	0.164000	0.22755	0.102000	0.19082	-3.884000	0.00342	0.316000	0.23135	0.455000	0.32223	CCG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.547	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	C	NM_018910	-		140214407	1	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	SNP	0.006	G	G	140214407	C	G	140214407	3	3	238	1	0	0	0	0	1	0	0	0	11531	739	26	4	441	4	PCDHA7	5	140214407	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	32157	140214407	40700853	32	19311											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250813	140250813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcgtggtgtccagcCtcctggtactcacgctgctg	11	15	2	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:140250813C>A	ENST00000398640.2	+	1	2125	c.2125C>A	c.(2125-2127)Ctc>Atc	p.L709I	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	709					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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCCAGCCTCCTGGTACT	0.672																																																	0								ENSG00000249158						44	45	45					5																	140250813		2203	4299	6502	PCDHA11	SO:0001583	missense	0			-	HGNC	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2125C>A	5.37:g.140250813C>A	ENSP00000381636:p.Leu709Ile	Somatic	0	87	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B2RN58|O75279	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L709I	ENST00000398640.2	37	c.2125	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	8.552	0.875782	0.17395	.	.	ENSG00000249158	ENST00000398640	T	0.24151	1.87	4.75	3.66	0.41972	.	.	.	.	.	T	0.44138	0.1279	M	0.83852	2.665	0.22796	N	0.998723	D;D	0.69078	0.997;0.995	P;P	0.60345	0.873;0.751	T	0.28744	-1.0034	9	0.29301	T	0.29	.	6.5347	0.22346	0.1683:0.6783:0.0:0.1534	.	709;709	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	I	709	ENSP00000381636:L709I	ENSP00000381636:L709I	L	+	1	0	PCDHA11	140230997	0.001000	0.12720	0.995000	0.50966	0.197000	0.23852	0.010000	0.13242	2.176000	0.68965	0.655000	0.94253	CTC	-	NULL		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	protein_coding	OTTHUMT00000372885.2	C	NM_018902	-		140250813	1	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	SNP	0.990	A	A	140250813	C	A	140250813	3	1	238	1	0	0	0	0	1	0	0	0	11523	681	24	3	2127	3	PCDHA11	5	140250813	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	36406	140250813	40664447	33	19312											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801828	140801828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggatgtgaatgataacgCtccagaaataactatcacct	8	8	1	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:140801828C>A	ENST00000398587.2	+	1	1067	c.1034C>A	c.(1033-1035)gCt>gAt	p.A345D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.A345D|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	345	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(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATAACGCTCCAGAAATA	0.393																																																	0								ENSG00000253873						44	45	45					5																	140801828		1870	4092	5962	PCDHGA11	SO:0001583	missense	0			-	HGNC	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1034C>A	5.37:g.140801828C>A	ENSP00000381589:p.Ala345Asp	Somatic	0	82	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A345D	ENST00000398587.2	37	c.1034	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	c	15.66	2.900632	0.52227	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.03301	3.98;3.98	5.82	4.94	0.65067	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.339126	0.15234	U	0.273270	T	0.18045	0.0433	M	0.80616	2.505	0.23791	N	0.996834	P;D;D	0.63880	0.956;0.993;0.974	P;P;P	0.62184	0.729;0.899;0.885	T	0.03993	-1.0986	10	0.66056	D	0.02	.	14.9775	0.71286	0.0:0.9301:0.0:0.0699	.	345;345;345	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	D	345	ENSP00000381589:A345D;ENSP00000428333:A345D	ENSP00000381589:A345D	A	+	2	0	PCDHGA11	140782012	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	0.718000	0.25866	1.432000	0.47375	0.655000	0.94253	GCT	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.393	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	protein_coding	OTTHUMT00000376974.1	C	NM_018914	-		140801828	1	no_errors	ENST00000398587	ensembl	human	known	74_37	missense	SNP	0.926	A	A	140801828	C	A	140801828	3	1	238	1	0	0	0	0	1	0	0	0	11554	797	28	3	1036	3	PCDHGA11	5	140801828	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	551015	140801828	40113432	34	19313											
DIAPH1	1729	genome.wustl.edu	37	chr5	140966629	140966629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcatctgttcaaagagaaCcagcacttgttcatctgaaa	7	10	4	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:140966629C>G	ENST00000398557.4	-	3	420	c.280G>C	c.(280-282)Gtt>Ctt	p.V94L	DIAPH1_ENST00000398566.3_Missense_Mutation_p.V85L|DIAPH1_ENST00000389054.3_Missense_Mutation_p.V94L|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V40L|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V85L|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V85L|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V85L|DIAPH1_ENST00000253811.6_Missense_Mutation_p.V94L	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	94	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAAGAGAACCAGCACTTGT	0.428																																																	0								ENSG00000131504						168	152	157					5																	140966629		1890	4115	6005	DIAPH1	SO:0001583	missense	0			-	HGNC	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.280G>C	5.37:g.140966629C>G	ENSP00000381565:p.Val94Leu	Somatic	0	89	0		0.495611309271502	26	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP							pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.V94L	ENST00000398557.4	37	c.280	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369425	0.42003	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.01	3.23	0.37069	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.304404	0.26875	N	0.022059	T	0.78110	0.4232	N	0.08118	0	0.26957	N	0.965894	B;B	0.34226	0.443;0.443	B;B	0.41374	0.267;0.355	T	0.68307	-0.5443	10	0.32370	T	0.25	.	6.4672	0.21987	0.0:0.6847:0.1492:0.1661	.	85;94	E9PEZ2;O60610	.;DIAP1_HUMAN	L	94;40;85;85;85;94;94;85;40	ENSP00000373706:V94L;ENSP00000429282:V40L;ENSP00000381570:V85L;ENSP00000373709:V85L;ENSP00000381572:V85L;ENSP00000381565:V94L;ENSP00000253811:V94L;ENSP00000428268:V85L;ENSP00000430587:V40L	ENSP00000253811:V94L	V	-	1	0	DIAPH1	140946813	0.997000	0.39634	0.988000	0.46212	0.975000	0.68041	1.824000	0.39072	0.620000	0.30215	0.655000	0.94253	GTT	-	pfam_GTPase-bd		0.428	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	protein_coding		C	NM_005219	-		140966629	-1	no_errors	ENST00000253811	ensembl	human	known	74_37	missense	SNP	1.000	G	G	140966629	C	G	140966629	3	3	238	1	0	0	0	0	1	0	0	0	4520	507	18	4	3642	4	DIAPH1	5	140966629	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	164801	140966629	39948631	35	19314											
GRIA1	2890	genome.wustl.edu	37	chr5	153078608	153078608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacgaaggcctggaatgGcatggtgggagagctggtct	17	7	1	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr5:153078608G>A	ENST00000285900.5	+	10	1770	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D	GRIA1_ENST00000518783.1_Missense_Mutation_p.G486D|GRIA1_ENST00000518142.1_Missense_Mutation_p.G396D|GRIA1_ENST00000340592.5_Missense_Mutation_p.G476D|GRIA1_ENST00000448073.4_Missense_Mutation_p.G486D|GRIA1_ENST00000521843.2_Missense_Mutation_p.G407D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	476					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCCTGGAATGGCATGGTGGGA	0.552																																																	0								ENSG00000155511						55	54	54					5																	153078608		2203	4300	6503	GRIA1	SO:0001583	missense	0			-	HGNC		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1427G>A	5.37:g.153078608G>A	ENSP00000285900:p.Gly476Asp	Somatic	0	76	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP							pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G486D	ENST00000285900.5	37	c.1457	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.104986	0.94245	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;D;T;T;T;D	0.95949	1.02;1.02;-3.86;1.02;1.02;1.02;-3.86	5.44	5.44	0.79542	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	H	0.96833	3.89	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.974	D;D;D;D;D;D	0.97110	0.993;0.993;1.0;0.993;0.988;0.923	D	0.99701	1.1004	10	0.87932	D	0	.	18.2393	0.89961	0.0:0.0:1.0:0.0	.	486;486;396;486;476;476	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	D	476;476;396;430;476;407;407;486;486	ENSP00000285900:G476D;ENSP00000427920:G396D;ENSP00000339343:G476D;ENSP00000427864:G407D;ENSP00000442108:G407D;ENSP00000428994:G486D;ENSP00000415569:G486D	ENSP00000285900:G476D	G	+	2	0	GRIA1	153058801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.548000	0.85928	0.655000	0.94253	GGC	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt		0.552	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	protein_coding	OTTHUMT00000252456.3	G		-		153078608	1	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	SNP	1.000	A	A	153078608	G	A	153078608	3	1	238	1	0	0	0	0	1	0	0	0	6769	1203	42	2	1465	2	GRIA1	5	153078608	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	12111979	153078608	27836652	36	19315											
ERVFRDE1	405754	genome.wustl.edu	37	chr6	11105281	11105281	+	Frame_Shift_Del	DEL	G	G	-													ttgaaagaagactatttgcaGgcctcatcagtcctttcaga							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr6:11105281delG	ENST00000472091.1	-	2	638	c.263delC	c.(262-264)cctfs	p.P88fs	ERVFRD-1_ENST00000542862.1_Frame_Shift_Del_p.P88fs|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	88					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						ACTATTTGCAGGCCTCATCAG	0.453																																																	0								ENSG00000244476						124	116	119					6																	11105281		2203	4300	6503	ERVFRD-1	SO:0001589	frameshift_variant	0				HGNC	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.263delC	6.37:g.11105281delG	ENSP00000420174:p.Pro88fs	Somatic	0	117	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	76	17.39		Frame_Shift_Del	DEL							pfam_TLV/ENV_coat_polyprotein	p.P88fs	ENST00000472091.1	37	c.263	CCDS4519.1	6																																																																																			-	NULL		0.453	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVFRD-1	protein_coding	OTTHUMT00000353776.1	G	NM_207582			11105281	-1	no_errors	ENST00000472091	ensembl	human	known	74_37	frame_shift_del	DEL	0.027	-	-	11105281	G	-	11105281	7	5	238	1	0	1	0	1	0	0	0	0	5248	1000	35	0	1357	0	ERVFRDE1	6	11105281	Frame_Shift_Del	DEL	G	TCGA-X6-A8C6-01A-11D-A36J-09		11105281	160009786	37	19316											
PKHD1	5314	genome.wustl.edu	37	chr6	51776645	51776645	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaagcagcttctccctctCattagtgagatttccttgta	6	11	2	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr6:51776645C>A	ENST00000371117.3	-	39	6717	c.6442G>T	c.(6442-6444)Gag>Tag	p.E2148*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2148*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2148					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)					TTCTCCCTCTCATTAGTGAGA	0.433																																																	0								ENSG00000170927						125	120	122					6																	51776645		2203	4300	6503	PKHD1	SO:0001587	stop_gained	0			-	HGNC	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.6442G>T	6.37:g.51776645C>A	ENSP00000360158:p.Glu2148*	Somatic	0	38	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP							pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.E2148*	ENST00000371117.3	37	c.6442	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	.	48	14.691660	0.99806	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.84	5.84	0.93424	.	0.224065	0.39083	N	0.001471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.2906	0.87154	0.0:1.0:0.0:0.0	.	.	.	.	X	2148	.	ENSP00000341097:E2148X	E	-	1	0	PKHD1	51884604	0.996000	0.38824	0.953000	0.39169	0.488000	0.33401	4.334000	0.59291	2.765000	0.95021	0.655000	0.94253	GAG	-	NULL		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	C	NM_138694	-		51776645	-1	no_errors	ENST00000371117	ensembl	human	known	74_37	nonsense	SNP	0.992	A	A	51776645	C	A	51776645	4	1	238	1	0	0	0	0	0	1	0	0	11973	835	29	3	5937	3	PKHD1	6	51776645	Nonsense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	40671364	51776645	119338422	38	19317											
EPHA7	2045	genome.wustl.edu	37	chr6	93955133	93955133	+	Frame_Shift_Del	DEL	A	A	-													caactgaacaaaaggtagtgAaatcaggagtgttttgatcc							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr6:93955133delA	ENST00000369303.4	-	16	2949	c.2765delT	c.(2764-2766)ttcfs	p.F922fs		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	922					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)		AAAGGTAGTGAAATCAGGAGT	0.363																																																	0								ENSG00000135333						95	101	99					6																	93955133		2203	4300	6503	EPHA7	SO:0001589	frameshift_variant	0				HGNC	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.2765delT	6.37:g.93955133delA	ENSP00000358309:p.Phe922fs	Somatic	0	89	0		0.495611309271502	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Frame_Shift_Del	DEL							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F922fs	ENST00000369303.4	37	c.2765	CCDS5031.1	6																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.363	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	A				93955133	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	93955133	A	-	93955133	7	5	238	1	0	1	0	1	0	0	0	0	5174	246	9	0	239	0	EPHA7	6	93955133	Frame_Shift_Del	DEL	A	TCGA-X6-A8C6-01A-11D-A36J-09	42178488	93955133	77159934	39	19318											
SIM1	6492	genome.wustl.edu	37	chr6	100868711	100868711	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgactttgagctggagagCcgggatttggccccctttct	12	10	1	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr6:100868711C>A	ENST00000369208.3	-	10	1904	c.1122G>T	c.(1120-1122)cgG>cgT	p.R374R	SIM1_ENST00000262901.4_Silent_p.R374R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	374	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTGGAGAGCCGGGATTTGG	0.502																																																	0								ENSG00000112246						109	104	106					6																	100868711		2203	4300	6503	SIM1	SO:0001819	synonymous_variant	0			-	HGNC	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1122G>T	6.37:g.100868711C>A		Somatic	0	119	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	80	8.05	Q5TDP7	Silent	SNP							pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.R374	ENST00000369208.3	37	c.1122	CCDS5045.1	6																																																																																			-	pfam_SIM_C		0.502	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	protein_coding	OTTHUMT00000041628.3	C	NM_005068	-		100868711	-1	no_errors	ENST00000262901	ensembl	human	known	74_37	silent	SNP	0.953	A	A	100868711	C	A	100868711	2	1	238	1	0	0	0	0	0	0	0	1	14331	726	26	3		3	SIM1	6	100868711	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	6913578	100868711	70246356	40	19319											
LAMA4	3910	genome.wustl.edu	37	chr6	112512893	112512893	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagccaggagcgcaacgttcAcacttgaatccggtggtgtt	12	10	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr6:112512893A>T	ENST00000230538.7	-	6	1060	c.663T>A	c.(661-663)tgT>tgA	p.C221*	LAMA4_ENST00000389463.4_Nonsense_Mutation_p.C221*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.C221*|LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.C221*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	221	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGCAACGTTCACACTTGAATC	0.502																																																	0								ENSG00000112769						95	80	85					6																	112512893		2203	4300	6503	LAMA4	SO:0001587	stop_gained	0			-	HGNC		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.663T>A	6.37:g.112512893A>T	ENSP00000230538:p.Cys221*	Somatic	0	77	0		0.495611309271502	111	1.77	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP							pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.C221*	ENST00000230538.7	37	c.663	CCDS43491.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	40|40|40	8.184917|8.184917|8.184917	0.98696|0.98696|0.98696	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588|ENST00000368640|ENST00000521732	.|.|.	.|.|.	.|.|.	5.7|5.7|5.7	3.38|3.38|3.38	0.38709|0.38709|0.38709	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.49609|.	.|0.1567|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.48115|.	.|-0.9063|.	.|4|.	0.02654|.|.	T|.|.	1|.|.	.|.|.	10.478|10.478|10.478	0.44676|0.44676|0.44676	0.8409:0.0:0.1591:0.0|0.8409:0.0:0.1591:0.0|0.8409:0.0:0.1591:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|E|R	221|25|41	.|.|.	ENSP00000230538:C221X|.|.	C|V|X	-|-|-	3|2|1	2|0|0	LAMA4|LAMA4|LAMA4	112619586|112619586|112619586	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.966000|0.966000|0.966000	0.64601|0.64601|0.64601	2.063000|2.063000|2.063000	0.41423|0.41423|0.41423	2.168000|2.168000|2.168000	0.68352|0.68352|0.68352	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGT|GTG|TGA	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.502	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	protein_coding	OTTHUMT00000041876.2	A	NM_001105206	-		112512893	-1	no_errors	ENST00000230538	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	112512893	A	T	112512893	4	4	238	1	0	0	0	0	0	1	0	0	8610	157	6	5	4944	5	LAMA4	6	112512893	Nonsense_Mutation	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	11644182	112512893	58602174	41	19320											
ZNF716	441234	genome.wustl.edu	37	chr7	57522798	57522798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgctgtctctaagccAgacttgatcacctgtctgga	10	10	3	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr7:57522798A>G	ENST00000420713.1	+	3	298	c.186A>G	c.(184-186)ccA>ccG	p.P62P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	62	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)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCTCTAAGCCAGACTTGATCA	0.373																																																	0								ENSG00000182111						103	83	89					7																	57522798		692	1591	2283	ZNF716	SO:0001819	synonymous_variant	0			-	HGNC	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.186A>G	7.37:g.57522798A>G		Somatic	0	212	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	167	8.74		Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P62	ENST00000420713.1	37	c.186	CCDS55112.1	7																																																																																			-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.373	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	protein_coding	OTTHUMT00000345309.1	A	NM_001159279	-		57522798	1	no_errors	ENST00000420713	ensembl	human	known	74_37	silent	SNP	0.934	G	G	57522798	A	G	57522798	2	3	238	1	0	0	0	0	0	0	0	1	18126	175	7	5		5	ZNF716	7	57522798	Silent	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09		57522798	101615865	42	19321											
LIMK1	3984	genome.wustl.edu	37	chr7	73535363	73535363	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcaccgtgcgctgttgcgatCtggaccccgagaagaggtga	14	11	2	3	rs578103189		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr7:73535363C>G	ENST00000336180.2	+	15	1816	c.1765C>G	c.(1765-1767)Ctg>Gtg	p.L589V	LIMK1_ENST00000538333.3_Missense_Mutation_p.L555V|LIMK1_ENST00000418310.1_Missense_Mutation_p.L619V	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CTGTTGCGATCTGGACCCCGA	0.662																																																	0								ENSG00000106683						87	92	90					7																	73535363		2203	4300	6503	LIMK1	SO:0001583	missense	0			-	HGNC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1765C>G	7.37:g.73535363C>G	ENSP00000336740:p.Leu589Val	Somatic	0	115	0		0.495611309271502	435	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	77	9.41	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L589V	ENST00000336180.2	37	c.1765	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121124	0.77436	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.62232	0.04;0.04;0.04	5.28	3.48	0.39840	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.55000	0.1893	N	0.13098	0.295	0.58432	D	0.999997	P;P	0.45212	0.853;0.853	P;P	0.52909	0.645;0.713	T	0.57883	-0.7734	10	0.72032	D	0.01	-20.1442	9.9725	0.41763	0.0:0.8468:0.0:0.1532	.	555;589	B7Z6I8;P53667	.;LIMK1_HUMAN	V	619;589;589;555	ENSP00000409717:L619V;ENSP00000336740:L589V;ENSP00000444452:L555V	ENSP00000336740:L589V	L	+	1	2	LIMK1	73173299	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	3.010000	0.49559	0.633000	0.30452	0.558000	0.71614	CTG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.662	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	protein_coding	OTTHUMT00000252335.2	C	NM_002314	-		73535363	1	no_errors	ENST00000336180	ensembl	human	known	74_37	missense	SNP	1.000	G	G	73535363	C	G	73535363	3	3	238	1	0	0	0	0	1	0	0	0	8803	912	32	4	1823	4	LIMK1	7	73535363	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	16012565	73535363	85603300	43	19322			1	101		3	3	143	C		7.904796e-08
LIMK1	3984	genome.wustl.edu	37	chr7	73535474	73535474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgtcacccaggccatCctttgtgaagctggaacact	8	15	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr7:73535474C>T	ENST00000336180.2	+	16	1838	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	LIMK1_ENST00000538333.3_Missense_Mutation_p.S562F|LIMK1_ENST00000418310.1_Missense_Mutation_p.S626F	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CCCAGGCCATCCTTTGTGAAG	0.672																																																	0								ENSG00000106683						68	65	66					7																	73535474		2203	4300	6503	LIMK1	SO:0001583	missense	0			-	HGNC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1787C>T	7.37:g.73535474C>T	ENSP00000336740:p.Ser596Phe	Somatic	0	102	0		0.495611309271502	292	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	83	18.45	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S596F	ENST00000336180.2	37	c.1787	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578165	0.45902	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.66995	-0.24;-0.24;-0.24	4.3	3.4	0.38934	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.537108	0.19276	N	0.118289	T	0.78272	0.4257	M	0.87971	2.92	0.45733	D	0.998638	D;D	0.55172	0.97;0.97	P;P	0.54629	0.757;0.757	T	0.80248	-0.1461	10	0.59425	D	0.04	-23.8437	11.1013	0.48177	0.0:0.6367:0.3633:0.0	.	562;596	B7Z6I8;P53667	.;LIMK1_HUMAN	F	626;596;596;562	ENSP00000409717:S626F;ENSP00000336740:S596F;ENSP00000444452:S562F	ENSP00000336740:S596F	S	+	2	0	LIMK1	73173410	0.997000	0.39634	0.985000	0.45067	0.498000	0.33706	3.427000	0.52785	0.945000	0.37605	0.456000	0.33151	TCC	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.672	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	protein_coding	OTTHUMT00000252335.2	C	NM_002314	-		73535474	1	no_errors	ENST00000336180	ensembl	human	known	74_37	missense	SNP	0.674	T	T	73535474	C	T	73535474	3	4	238	1	0	0	0	0	1	0	0	0	8803	855	30	2	1849	2	LIMK1	7	73535474	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	111	73535474	85603189	44	19323			1	101		3	3	143	C		7.904796e-08
LIMK1	3984	genome.wustl.edu	37	chr7	73535505	73535505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacactggctggagacCctccgcatgcacctggccgg	13	15	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr7:73535505C>T	ENST00000336180.2	+	16	1869	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	LIMK1_ENST00000538333.3_Silent_p.T572T|LIMK1_ENST00000418310.1_Silent_p.T636T	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	606					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GGCTGGAGACCCTCCGCATGC	0.677																																																	0								ENSG00000106683						50	47	48					7																	73535505		2203	4300	6503	LIMK1	SO:0001819	synonymous_variant	0			-	HGNC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1818C>T	7.37:g.73535505C>T		Somatic	0	110	0		0.495611309271502	404	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	75	11.49	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T606	ENST00000336180.2	37	c.1818	CCDS5563.1	7																																																																																			-	superfamily_Kinase-like_dom		0.677	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	protein_coding	OTTHUMT00000252335.2	C	NM_002314	-		73535505	1	no_errors	ENST00000336180	ensembl	human	known	74_37	silent	SNP	1.000	T	T	73535505	C	T	73535505	2	4	238	1	0	0	0	0	0	0	0	1	8803	610	22	2		2	LIMK1	7	73535505	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	31	73535505	85603158	45	19324			1	101		3	3	143	C		7.904796e-08
MLL5	55904	genome.wustl.edu	37	chr7	104747869	104747869	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagaaattctaatttaactGaactgggtctgcaagaaata	7	5	2	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr7:104747869G>A	ENST00000311117.3	+	22	3510	c.2965G>A	c.(2965-2967)Gaa>Aaa	p.E989K	KMT2E_ENST00000257745.4_Missense_Mutation_p.E989K|KMT2E_ENST00000334877.4_Missense_Mutation_p.E989K|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_Missense_Mutation_p.E44K	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	989					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TAATTTAACTGAACTGGGTCT	0.368																																																	0								ENSG00000005483						71	77	75					7																	104747869		2203	4300	6503	KMT2E	SO:0001583	missense	0			-	HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2965G>A	7.37:g.104747869G>A	ENSP00000312379:p.Glu989Lys	Somatic	0	121	0		0.495611309271502	52	3.7	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	72	25.77	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP							pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.E989K	ENST00000311117.3	37	c.2965	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225747	0.79576	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.92495	-3.05;-2.62;-3.05;0.55	6.03	6.03	0.97812	.	0.270881	0.37304	N	0.002155	D	0.88078	0.6340	N	0.24115	0.695	0.46131	D	0.99888	B	0.27791	0.189	B	0.27608	0.081	D	0.83611	0.0134	10	0.42905	T	0.14	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	989	Q8IZD2	MLL5_HUMAN	K	989;989;989;909;989;44	ENSP00000312379:E989K;ENSP00000335599:E989K;ENSP00000257745:E989K;ENSP00000333986:E44K	ENSP00000257745:E989K	E	+	1	0	MLL5	104535105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.378000	0.66190	2.854000	0.98071	0.655000	0.94253	GAA	-	NULL		0.368	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	G		-		104747869	1	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	SNP	1.000	A	A	104747869	G	A	104747869	3	1	238	1	0	0	0	0	1	0	0	0	9626	1291	45	2	3043	2	MLL5	7	104747869	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	31212364	104747869	54390794	46	19325											
CHD7	55636	genome.wustl.edu	37	chr8	61765390	61765390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccttctgtgttacagaaCcgcccgacctctcctccata	6	17	2	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr8:61765390C>T	ENST00000423902.2	+	31	6585	c.6106C>T	c.(6106-6108)Ccg>Tcg	p.P2036S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2036					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTTACAGAACCGCCCGACCT	0.468																																																	0								ENSG00000171316						98	100	99					8																	61765390		1875	4097	5972	CHD7	SO:0001583	missense	0			-	HGNC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6106C>T	8.37:g.61765390C>T	ENSP00000392028:p.Pro2036Ser	Somatic	0	137	0		0.495611309271502	14	30	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP							pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2036S	ENST00000423902.2	37	c.6106	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285520	0.05605	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.86497	-2.13	5.21	5.21	0.72293	.	0.142264	0.48767	D	0.000164	T	0.75961	0.3921	N	0.17474	0.49	0.37685	D	0.923642	B	0.12630	0.006	B	0.12837	0.008	T	0.71721	-0.4507	10	0.10636	T	0.68	-4.9495	13.71	0.62663	0.1541:0.8459:0.0:0.0	.	2036	Q9P2D1	CHD7_HUMAN	S	2036	ENSP00000392028:P2036S	ENSP00000307304:P2036S	P	+	1	0	CHD7	61927944	0.997000	0.39634	0.725000	0.30721	0.044000	0.14063	3.249000	0.51437	2.433000	0.82419	0.655000	0.94253	CCG	-	NULL		0.468	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	C	XM_098762	-		61765390	1	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	SNP	0.996	T	T	61765390	C	T	61765390	3	4	238	1	0	0	0	0	1	0	0	0	3332	507	18	2	6224	2	CHD7	8	61765390	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		61765390	84598632	47	19326											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39165950	39165950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaataataggtgtcaCctgaatcaatgagcacagcc	7	11	2	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr9:39165950C>T	ENST00000297668.6	-	9	1530	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G398D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G486D|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G486D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G486D	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	486	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATAGGTGTCACCTGAATCAAT	0.463																																																	0								ENSG00000106714						2	2	2					9																	39165950		1107	2415	3522	CNTNAP3	SO:0001583	missense	0			-	HGNC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1457G>A	9.37:g.39165950C>T	ENSP00000297668:p.Gly486Asp	Somatic	0	71	0		0.495611309271502	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	26	16.13	B1AMA0|Q9C0E9	Missense_Mutation	SNP							pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G486D	ENST00000297668.6	37	c.1457	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	c	13.12	2.140807	0.37825	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.78126	-1.01;-1.01;-1.01;-1.15;-1.01	3.06	2.15	0.27550	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.83394	0.5245	M	0.82323	2.585	0.09310	N	1	P;B;P;B;B	0.42357	0.777;0.078;0.469;0.387;0.098	P;B;B;P;B	0.55615	0.78;0.232;0.315;0.518;0.208	T	0.70368	-0.4891	9	0.32370	T	0.25	.	5.2378	0.15456	0.0:0.7234:0.0:0.2766	.	486;486;486;486;486	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	D	486;486;398;486;486	ENSP00000297668:G486D;ENSP00000366884:G486D;ENSP00000350863:G398D;ENSP00000320728:G486D;ENSP00000366887:G486D	ENSP00000297668:G486D	G	-	2	0	CNTNAP3	39155950	0.282000	0.24268	0.035000	0.18076	0.640000	0.38277	0.829000	0.27449	0.600000	0.29862	0.563000	0.77884	GGT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	protein_coding	OTTHUMT00000052511.1	C	NM_033655	-		39165950	-1	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	SNP	0.093	T	T	39165950	C	T	39165950	3	4	238	1	0	0	0	0	1	0	0	0	3650	507	18	2	2473	2	CNTNAP3	9	39165950	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		39165950	102047481	48	19327											
GRIN3A	116443	genome.wustl.edu	37	chr9	104499623	104499623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actggaatgtgcaggactaaGctgaccaagtcgagctccat	11	10	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr9:104499623G>C	ENST00000361820.3	-	1	1239	c.639C>G	c.(637-639)agC>agG	p.S213R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	213					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCAGGACTAAGCTGACCAAGT	0.612																																																	0								ENSG00000198785						79	71	74					9																	104499623		2203	4300	6503	GRIN3A	SO:0001583	missense	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.639C>G	9.37:g.104499623G>C	ENSP00000355155:p.Ser213Arg	Somatic	0	49	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	48	10.91	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP							pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.S213R	ENST00000361820.3	37	c.639	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131723	0.56828	.	.	ENSG00000198785	ENST00000361820	D	0.86366	-2.11	5.54	3.65	0.41850	.	0.187696	0.45126	D	0.000394	D	0.88966	0.6581	L	0.56769	1.78	0.45108	D	0.998123	D	0.63046	0.992	P	0.60236	0.871	D	0.88391	0.3008	10	0.87932	D	0	.	7.0094	0.24853	0.2156:0.1342:0.6503:0.0	.	213	Q8TCU5	NMD3A_HUMAN	R	213	ENSP00000355155:S213R	ENSP00000355155:S213R	S	-	3	2	GRIN3A	103539444	0.893000	0.30496	0.995000	0.50966	0.950000	0.60333	0.127000	0.15790	1.297000	0.44761	0.655000	0.94253	AGC	-	superfamily_Peripla_BP_I		0.612	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	G		-		104499623	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	SNP	0.746	C	C	104499623	G	C	104499623	3	2	238	1	0	0	0	0	1	0	0	0	6785	962	34	4	2744	4	GRIN3A	9	104499623	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	65333673	104499623	36713808	49	19328											
PHRF1	57661	genome.wustl.edu	37	chr11	598385	598385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagcacacaccagggCgcctcgggtcttccctgctg	12	16	1	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:598385C>T	ENST00000264555.5	+	9	1035	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PHRF1_ENST00000533464.1_Missense_Mutation_p.R299C|PHRF1_ENST00000416188.2_Missense_Mutation_p.R303C|PHRF1_ENST00000413872.2_Missense_Mutation_p.R302C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	303	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACACCAGGGCGCCTCGGGTC	0.672																																																	0								ENSG00000070047						31	38	36					11																	598385		2128	4233	6361	PHRF1	SO:0001583	missense	0			-	HGNC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.907C>T	11.37:g.598385C>T	ENSP00000264555:p.Arg303Cys	Somatic	0	172	0		0.495611309271502	19	16.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	66	22.09	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP							pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R303C	ENST00000264555.5	37	c.907		11	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136605	0.37728	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.64	0.772	0.18510	.	0.618637	0.13372	N	0.392802	T	0.21590	0.0520	N	0.08118	0	0.22424	N	0.999117	P;P;P;P	0.45044	0.765;0.849;0.849;0.765	B;B;B;B	0.41723	0.2;0.365;0.365;0.2	T	0.09997	-1.0649	10	0.44086	T	0.13	-7.5723	7.0974	0.25317	0.0:0.2431:0.0:0.7569	.	299;302;303;303	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	303;302;303;299	ENSP00000264555:R303C;ENSP00000388589:R302C;ENSP00000410626:R303C;ENSP00000431870:R299C	ENSP00000264555:R303C	R	+	1	0	PHRF1	588385	0.996000	0.38824	0.027000	0.17364	0.001000	0.01503	0.203000	0.17315	-0.105000	0.12132	0.491000	0.48974	CGC	-	NULL		0.672	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	protein_coding	OTTHUMT00000382133.1	C	NM_020901	-		598385	1	no_errors	ENST00000264555	ensembl	human	known	74_37	missense	SNP	0.830	T	T	598385	C	T	598385	3	4	238	1	0	0	0	0	1	0	0	0	11863	768	27	1	937	1	PHRF1	11	598385	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		598385	134408131	50	19329											
DBX1	120237	genome.wustl.edu	37	chr11	20180809	20180809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcgaaggtcttgggagGgacgctctggagcaaggctg	18	7	2	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:20180809G>A	ENST00000524983.2	-	2	685	c.397C>T	c.(397-399)Cct>Tct	p.P133S	DBX1_ENST00000227256.3_Missense_Mutation_p.P133S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	133					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GTCTTGGGAGGGACGCTCTGG	0.527																																																	0								ENSG00000109851						152	140	144					11																	20180809		2203	4300	6503	DBX1	SO:0001583	missense	0			-	HGNC			11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.397C>T	11.37:g.20180809G>A	ENSP00000436881:p.Pro133Ser	Somatic	0	25	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P133S	ENST00000524983.2	37	c.397		11	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012330	0.35511	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.92249	-3.0;0.13	5.43	5.43	0.79202	.	0.183165	0.48286	D	0.000199	D	0.87245	0.6129	L	0.36672	1.1	0.41022	D	0.985084	P	0.42518	0.782	B	0.34652	0.187	D	0.86128	0.1573	10	0.22706	T	0.39	-9.8346	19.2459	0.93902	0.0:0.0:1.0:0.0	.	133	F8W811	.	S	133	ENSP00000436881:P133S;ENSP00000227256:P133S	ENSP00000227256:P133S	P	-	1	0	DBX1	20137385	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.325000	0.59234	2.551000	0.86045	0.655000	0.94253	CCT	-	NULL		0.527	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	protein_coding	OTTHUMT00000387585.2	G	NM_001029865	-		20180809	-1	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20180809	G	A	20180809	3	1	238	1	0	0	0	0	1	0	0	0	4261	1232	43	2	763	2	DBX1	11	20180809	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	19582424	20180809	114825707	51	19330											
AMBRA1	55626	genome.wustl.edu	37	chr11	46456427	46456427	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgtagagcatttcgccCaggttatggggggccaggga	17	7	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:46456427C>A	ENST00000458649.2	-	13	3211	c.2793G>T	c.(2791-2793)ctG>ctT	p.L931L	AMBRA1_ENST00000534300.1_Silent_p.L871L|AMBRA1_ENST00000314845.3_Silent_p.L841L|AMBRA1_ENST00000528950.1_Silent_p.L902L|AMBRA1_ENST00000533727.1_Silent_p.L812L|AMBRA1_ENST00000426438.1_Silent_p.L902L|AMBRA1_ENST00000298834.3_Silent_p.L871L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	931					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCATTTCGCCCAGGTTATGGG	0.577																																																	0								ENSG00000110497						82	69	74					11																	46456427		2201	4299	6500	AMBRA1	SO:0001819	synonymous_variant	0			-	HGNC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2793G>T	11.37:g.46456427C>A		Somatic	0	110	0		0.495611309271502	35	25.53	12	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	36	33.33	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L931	ENST00000458649.2	37	c.2793		11																																																																																			-	NULL		0.577	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	protein_coding	OTTHUMT00000390103.1	C	NM_017749	-		46456427	-1	no_errors	ENST00000458649	ensembl	human	known	74_37	silent	SNP	1.000	A	A	46456427	C	A	46456427	2	1	238	1	0	0	0	0	0	0	0	1	565	581	21	3		3	AMBRA1	11	46456427	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	26275618	46456427	88550089	52	19331											
OR8K1	390157	genome.wustl.edu	37	chr11	56113793	56113793	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttagtaaacttcatagtGcacaaaaacacaatttctta	4	7	2	0	rs372174600		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:56113793G>T	ENST00000279783.2	+	1	373	c.279G>T	c.(277-279)gtG>gtT	p.V93V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACTTCATAGTGCACAAAAACA	0.393										HNSCC(65;0.19)																																							0								ENSG00000150261						171	166	167					11																	56113793		2201	4296	6497	OR8K1	SO:0001819	synonymous_variant	0			-	HGNC	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.279G>T	11.37:g.56113793G>T		Somatic	0	32	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B9EJB1|Q6IFC3|Q96RC1	Silent	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V93	ENST00000279783.2	37	c.279	CCDS31528.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.393	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	protein_coding	OTTHUMT00000391605.1	G	NM_001002907	-		56113793	1	no_errors	ENST00000279783	ensembl	human	known	74_37	silent	SNP	0.000	T	T	56113793	G	T	56113793	2	4	238	1	0	0	0	0	0	0	0	1	11245	1306	46	3		3	OR8K1	11	56113793	Silent	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	9657366	56113793	78892723	53	19332											
PITPNM1	9600	genome.wustl.edu	37	chr11	67261233	67261233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctggcggtgaaggagccGtcgatgctgaagaccacagc	15	11	0	3	rs370108604	byFrequency	TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:67261233G>A	ENST00000534749.1	-	20	3272	c.3084C>T	c.(3082-3084)gaC>gaT	p.D1028D	PITPNM1_ENST00000356404.3_Silent_p.D1028D|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.D1027D			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1028					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGAAGGAGCCGTCGATGCTGA	0.687													G|||	2	0.000399361	0.0015	0	5008	,	,		10784	0		0	False		,,,				2504	0				GBM(28;144 709 4607 5525)												0								ENSG00000110697	G	,	3,4159		0,3,2078	22	20	21		3081,3084	-0.1	1	11		21	0,8142		0,0,4071	no	coding-synonymous,coding-synonymous	PITPNM1	NM_001130848.1,NM_004910.2	,	0,3,6149	AA,AG,GG		0.0,0.0721,0.0244	,	1027/1244,1028/1245	67261233	3,12301	2081	4071	6152	PITPNM1	SO:0001819	synonymous_variant	0			-	HGNC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3084C>T	11.37:g.67261233G>A		Somatic	0	36	0		0.495611309271502	60	24.05	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP							pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.D1028	ENST00000534749.1	37	c.3084	CCDS31620.1	11																																																																																			-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	protein_coding	OTTHUMT00000395520.1	G	NM_004910	-		67261233	-1	no_errors	ENST00000356404	ensembl	human	known	74_37	silent	SNP	0.999	A	A	67261233	G	A	67261233	2	1	238	1	0	0	0	0	0	0	0	1	11952	1136	40	1		1	PITPNM1	11	67261233	Silent	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	11147440	67261233	67745283	54	19333											
HYOU1	10525	genome.wustl.edu	37	chr11	118919434	118919434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacttacttctgcacCgactgagccagcttatcctc	6	16	2	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:118919434C>T	ENST00000404233.3	-	18	2281	c.2157G>A	c.(2155-2157)tcG>tcA	p.S719S	HYOU1_ENST00000525859.1_Silent_p.S657S|HYOU1_ENST00000529972.1_Silent_p.S657S|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	719					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACTTCTGCACCGACTGAGCCA	0.607																																																	0								ENSG00000149428						113	99	104					11																	118919434		2200	4295	6495	HYOU1	SO:0001819	synonymous_variant	0			-	HGNC	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2157G>A	11.37:g.118919434C>T		Somatic	0	35	0		0.495611309271502	142	0.7	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP							pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.S719	ENST00000404233.3	37	c.2157	CCDS8408.1	11																																																																																			-	pfam_Hsp_70_fam		0.607	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	protein_coding	OTTHUMT00000389353.1	C	NM_006389	-		118919434	-1	no_errors	ENST00000404233	ensembl	human	known	74_37	silent	SNP	0.001	T	T	118919434	C	T	118919434	2	4	238	1	0	0	0	0	0	0	0	1	7472	639	23	1		1	HYOU1	11	118919434	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	51658201	118919434	16087082	55	19334											
NFRKB	4798	genome.wustl.edu	37	chr11	129739602	129739602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttggcgtgggttgcaacGgtgatggtctggcctgcttt	16	8	1	1	rs371098164		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr11:129739602G>A	ENST00000446488.3	-	23	3421	c.3318C>T	c.(3316-3318)acC>acT	p.T1106T	NFRKB_ENST00000524794.1_Silent_p.T1131T|NFRKB_ENST00000304521.5_Silent_p.T1106T|NFRKB_ENST00000524746.1_Silent_p.T1106T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1106					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGGTTGCAACGGTGATGGTCT	0.577																																																	0								ENSG00000170322	G	,	1,4401	2.1+/-5.4	0,1,2200	139	128	132		3318,3393	-10.5	0.1	11		132	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	NFRKB	NM_001143835.1,NM_006165.3	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	1106/1300,1131/1325	129739602	1,12995	2201	4297	6498	NFRKB	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3318C>T	11.37:g.129739602G>A		Somatic	0	69	0		0.495611309271502	28	37.78	17	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	Q12869|Q15312|Q9H048	Silent	SNP							NULL	p.T1131	ENST00000446488.3	37	c.3393	CCDS44770.1	11																																																																																			-	NULL		0.577	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	protein_coding	OTTHUMT00000386063.2	G	NM_006165	-		129739602	-1	no_errors	ENST00000524794	ensembl	human	known	74_37	silent	SNP	0.002	A	A	129739602	G	A	129739602	2	1	238	1	0	0	0	0	0	0	0	1	10386	1103	39	1		1	NFRKB	11	129739602	Silent	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	10820168	129739602	5266914	56	19335											
FOXM1	2305	genome.wustl.edu	37	chr12	2974538	2974538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgattccaagtgctcggGcaattgtggagaccctgggt	13	9	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr12:2974538G>A	ENST00000359843.3	-	6	1071	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	FOXM1_ENST00000361953.3_Intron|FOXM1_ENST00000342628.2_Missense_Mutation_p.P335S|FOXM1_ENST00000537018.1_5'UTR	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	335					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAGTGCTCGGGCAATTGTGGA	0.527																																																	0								ENSG00000111206						133	125	128					12																	2974538		2203	4300	6503	FOXM1	SO:0001583	missense	0			-	HGNC	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1003C>T	12.37:g.2974538G>A	ENSP00000352901:p.Pro335Ser	Somatic	1	101	0.98		0.495611309271502	65	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P335S	ENST00000359843.3	37	c.1003	CCDS8515.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.85|11.85	1.760544|1.760544	0.31137|0.31137	.|.	.|.	ENSG00000111206|ENSG00000111206	ENST00000535350|ENST00000342628;ENST00000359843	.|D;D	.|0.92752	.|-3.08;-3.1	6.14|6.14	5.08|5.08	0.68730|0.68730	.|.	.|0.314519	.|0.35805	.|N	.|0.002964	D|D	0.84406|0.84406	0.5465|0.5465	N|N	0.04508|0.04508	-0.205|-0.205	0.41272|0.41272	D|D	0.986854|0.986854	.|B;P	.|0.41313	.|0.065;0.745	.|B;P	.|0.44946	.|0.007;0.465	D|D	0.84828|0.84828	0.0800|0.0800	5|10	.|0.41790	.|T	.|0.15	.|.	12.1078|12.1078	0.53821|0.53821	0.1281:0.0:0.8719:0.0|0.1281:0.0:0.8719:0.0	.|.	.|335;335	.|Q08050;Q08050-3	.|FOXM1_HUMAN;.	V|S	59|335	.|ENSP00000342307:P335S;ENSP00000352901:P335S	.|ENSP00000342307:P335S	A|P	-|-	2|1	0|0	FOXM1|FOXM1	2844799|2844799	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.994000|0.994000	0.84299|0.84299	3.322000|3.322000	0.52007|0.52007	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCC|CCC	-	NULL		0.527	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	protein_coding	OTTHUMT00000398272.1	G	NM_021953	-		2974538	-1	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	SNP	0.999	A	A	2974538	G	A	2974538	3	1	238	1	0	0	0	0	1	0	0	0	6020	1203	42	2	1422	2	FOXM1	12	2974538	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		2974538	130877357	57	19336											
KRT72	140807	genome.wustl.edu	37	chr12	52979778	52979779	+	Frame_Shift_Ins	INS	-	-	T													ttgtccatcatctggaggccINStttttggtggcacagctgct							TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr12:52979778_52979779insT	ENST00000537672.2	-	9	1533_1534	c.1523_1524insA	c.(1522-1524)aagfs	p.K508fs	KRT72_ENST00000398066.3_Frame_Shift_Ins_p.K320fs|KRT72_ENST00000293745.2_Frame_Shift_Ins_p.K508fs|KRT72_ENST00000354310.4_Frame_Shift_Ins_p.K466fs	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	508	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATCTGGAGGCCTTTTTGGTGGC	0.564																																																	0								ENSG00000170486																																			KRT72	SO:0001589	frameshift_variant	0				HGNC	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1524dupA	12.37:g.52979783_52979783dupT	ENSP00000441160:p.Lys508fs	Somatic	0	58	0		0.495611309271502	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Frame_Shift_Ins	INS							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.A509fs	ENST00000537672.2	37	c.1524_1523	CCDS8833.1	12																																																																																			-	NULL		0.564	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	protein_coding	OTTHUMT00000405693.1	-	NM_080747			52979779	-1	no_errors	ENST00000293745	ensembl	human	known	74_37	frame_shift_ins	INS	0.980:0.983	T	T	52979779	-	T	52979778	7	5	238	1	0	1	1	0	0	0	0	0	8487	680	24	0	15	0	KRT72	12	52979778	Frame_Shift_Ins	INS	-	TCGA-X6-A8C6-01A-11D-A36J-09	50005240	52979778	80872117	58	19337											
RBMS2	5939	genome.wustl.edu	37	chr12	56975275	56975275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaaatggacgggcttggCcaaggaatgcagacatggta	14	7	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr12:56975275C>T	ENST00000262031.5	+	7	810	c.715C>T	c.(715-717)Cca>Tca	p.P239S	RBMS2_ENST00000552247.2_Missense_Mutation_p.P239S|RBMS2_ENST00000550726.1_Missense_Mutation_p.P114S|RBMS2_ENST00000542360.1_Missense_Mutation_p.P94S	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	239					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ACGGGCTTGGCCAAGGAATGC	0.483																																																	0								ENSG00000076067						56	49	51					12																	56975275		2203	4300	6503	RBMS2	SO:0001583	missense	0			-	HGNC	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.715C>T	12.37:g.56975275C>T	ENSP00000262031:p.Pro239Ser	Somatic	0	83	0		0.495611309271502	39	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64		Missense_Mutation	SNP							pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P239S	ENST00000262031.5	37	c.715	CCDS8923.1	12	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672482	0.29693	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	T;T;T	0.73681	2.74;-0.77;-0.77	5.21	5.21	0.72293	.	0.398617	0.25919	N	0.027453	T	0.66479	0.2793	L	0.46157	1.445	0.40019	D	0.975385	B;B	0.28082	0.2;0.008	B;B	0.26416	0.069;0.005	T	0.62704	-0.6798	10	0.21540	T	0.41	.	13.6573	0.62346	0.0:0.8447:0.1553:0.0	.	94;239	F5H5C8;Q15434	.;RBMS2_HUMAN	S	239;239;114;94	ENSP00000262031:P239S;ENSP00000447426:P239S;ENSP00000449678:P114S	ENSP00000262031:P239S	P	+	1	0	RBMS2	55261542	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.407000	0.34657	2.605000	0.88082	0.655000	0.94253	CCA	-	NULL		0.483	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS2	protein_coding	OTTHUMT00000409366.2	C	NM_002898	-		56975275	1	no_errors	ENST00000262031	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56975275	C	T	56975275	3	4	238	1	0	0	0	0	1	0	0	0	13157	739	26	2	741	2	RBMS2	12	56975275	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	3995497	56975275	76876620	59	19338											
NOC4L	79050	genome.wustl.edu	37	chr12	132632204	132632204	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaggcctgctgtctccTgaggaggaccagagcctgct	16	11	1	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr12:132632204T>A	ENST00000330579.1	+	5	521	c.480T>A	c.(478-480)ccT>ccA	p.P160P	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	160					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TGCTGTCTCCTGAGGAGGACC	0.672																																																	0								ENSG00000184967						50	49	50					12																	132632204		2203	4299	6502	NOC4L	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.480T>A	12.37:g.132632204T>A		Somatic	0	116	0		0.495611309271502	33	25	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	64	15.79	Q8N2S5|Q96I14	Silent	SNP							pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.P160	ENST00000330579.1	37	c.480	CCDS9277.1	12																																																																																			-	superfamily_ARM-type_fold		0.672	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	protein_coding	OTTHUMT00000398999.1	T	NM_024078	-		132632204	1	no_errors	ENST00000330579	ensembl	human	known	74_37	silent	SNP	0.000	A	A	132632204	T	A	132632204	2	1	238	1	0	0	0	0	0	0	0	1	10517	1567	55	5		5	NOC4L	12	132632204	Silent	SNP	T	TCGA-X6-A8C6-01A-11D-A36J-09	75656929	132632204	1219691	60	19339											
CENPJ	55835	genome.wustl.edu	37	chr13	25486721	25486721	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaatcctattgtaccTgttcaagttttttaaaaagt	6	7	1	0			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr13:25486721T>C	ENST00000381884.4	-	2	628	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	CENPJ_ENST00000545981.1_Splice_Site_p.Q148R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	148					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTATTGTACCTGTTCAAGTTT	0.368																																																	0								ENSG00000151849						67	69	68					13																	25486721		2203	4300	6503	CENPJ	SO:0001630	splice_region_variant	0			-	HGNC	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.444+1A>G	13.37:g.25486721T>C		Somatic	0	92	0		0.495611309271502	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP							pfam_Tcp10_C_dom	p.Q148R	ENST00000381884.4	37	c.443	CCDS9310.1	13	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167661	0.78339	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.36699	2.26;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000004	T	0.59932	0.2230	M	0.77616	2.38	0.32225	N	0.574786	D	0.76494	0.999	D	0.80764	0.994	T	0.68784	-0.5317	10	0.36615	T	0.2	.	13.8308	0.63380	0.0:0.0:0.0:1.0	.	148	Q9HC77	CENPJ_HUMAN	R	148	ENSP00000371308:Q148R;ENSP00000441090:Q148R	ENSP00000371308:Q148R	Q	-	2	0	CENPJ	24384721	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.098000	0.64548	2.252000	0.74401	0.533000	0.62120	CAG	-	NULL		0.368	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	protein_coding	OTTHUMT00000044209.1	T	NM_018451	-	Missense_Mutation	25486721	-1	no_errors	ENST00000381884	ensembl	human	known	74_37	missense	SNP	1.000	C	C	25486721	T	C	25486721	5	2	238	1	0	0	0	0	0	0	1	0	3236	1594	55	5	3637	5	CENPJ	13	25486721	Splice_Site	SNP	T	TCGA-X6-A8C6-01A-11D-A36J-09		25486721	89683157	61	19340											
NBEA	26960	genome.wustl.edu	37	chr13	36242619	36242619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatttaccctggatgtgatGctggcattagagcaatggac	11	8	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr13:36242619G>T	ENST00000400445.3	+	57	9247	c.8713G>T	c.(8713-8715)Gct>Tct	p.A2905S	NBEA_ENST00000379939.2_Missense_Mutation_p.A2902S|NBEA_ENST00000310336.4_Missense_Mutation_p.A2905S|NBEA_ENST00000379922.3_Missense_Mutation_p.A483S|NBEA_ENST00000537702.1_Missense_Mutation_p.A698S|NBEA_ENST00000540320.1_Missense_Mutation_p.A2905S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2905					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGATGTGATGCTGGCATTAG	0.512																																																	0								ENSG00000172915						80	84	83					13																	36242619		2052	4194	6246	NBEA	SO:0001583	missense	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8713G>T	13.37:g.36242619G>T	ENSP00000383295:p.Ala2905Ser	Somatic	0	91	0		0.495611309271502	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP							pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A2905S	ENST00000400445.3	37	c.8713	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792970	0.50102	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66	5.81	5.81	0.92471	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	0.23410	0.0566	N	0.17631	0.505	0.80722	D	1	B;B;B	0.22909	0.077;0.074;0.077	B;B;B	0.25759	0.056;0.063;0.056	T	0.08106	-1.0738	10	0.11182	T	0.66	.	20.0858	0.97800	0.0:0.0:1.0:0.0	.	2905;483;2902	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	S	2905;2905;2902;2905;1534;483;698;483	ENSP00000440951:A2905S;ENSP00000383295:A2905S;ENSP00000369271:A2902S;ENSP00000308534:A2905S;ENSP00000440233:A698S;ENSP00000369254:A483S	ENSP00000308534:A2905S	A	+	1	0	NBEA	35140619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.695000	0.84257	2.753000	0.94483	0.650000	0.86243	GCT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.512	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		G	NM_015678	-		36242619	1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36242619	G	T	36242619	3	4	238	1	0	0	0	0	1	0	0	0	10189	1319	46	3	8939	3	NBEA	13	36242619	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	10755898	36242619	78927259	62	19341											
ACTC1	70	genome.wustl.edu	37	chr15	35083329	35083329	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccttaatcttcatggTgctaggagccagagcagtga	10	9	2	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr15:35083329T>A	ENST00000290378.4	-	6	1631	c.976A>T	c.(976-978)Acc>Tcc	p.T326S	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	326					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCTTCATGGTGCTAGGAGCC	0.448																																																	0								ENSG00000159251						279	262	268					15																	35083329		2201	4298	6499	ACTC1	SO:0001583	missense	0			-	HGNC	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.976A>T	15.37:g.35083329T>A	ENSP00000290378:p.Thr326Ser	Somatic	1	140	0.7		0.495611309271502	301	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	P04270	Missense_Mutation	SNP							pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.T326S	ENST00000290378.4	37	c.976	CCDS10041.1	15	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975785	0.53720	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.93953	-3.32	5.48	5.48	0.80851	.	0.000000	0.53938	U	0.000052	D	0.91290	0.7254	N	0.03000	-0.44	0.58432	D	0.99999	B	0.20368	0.044	P	0.49561	0.615	D	0.90002	0.4115	10	0.87932	D	0	.	15.86	0.79014	0.0:0.0:0.0:1.0	.	326	P68032	ACTC_HUMAN	S	326;291	ENSP00000290378:T326S	ENSP00000290378:T326S	T	-	1	0	ACTC1	32870621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.190000	0.69967	0.533000	0.62120	ACC	-	pfam_Actin-related,smart_Actin-related		0.448	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTC1	protein_coding	OTTHUMT00000251876.3	T	NM_005159	-		35083329	-1	no_errors	ENST00000290378	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35083329	T	A	35083329	3	1	238	1	0	0	0	0	1	0	0	0	195	1696	59	5	165	5	ACTC1	15	35083329	Missense_Mutation	SNP	T	TCGA-X6-A8C6-01A-11D-A36J-09		35083329	67448063	63	19342											
FBN1	2200	genome.wustl.edu	37	chr15	48704928	48704928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcccatgcccattccAgaaacacagtgcctgcagca	8	17	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr15:48704928A>G	ENST00000316623.5	-	65	8519	c.8064T>C	c.(8062-8064)tcT>tcC	p.S2688S	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2688					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)		TGCCCATTCCAGAAACACAGT	0.493																																																	0								ENSG00000166147						142	139	140					15																	48704928		2198	4296	6494	FBN1	SO:0001819	synonymous_variant	0			-	HGNC	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.8064T>C	15.37:g.48704928A>G		Somatic	0	44	0		0.495611309271502	4072	41.3	2867	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP							pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.S2688	ENST00000316623.5	37	c.8064	CCDS32232.1	15																																																																																			-	superfamily_Growth_fac_rcpt_N_dom,pirsf_FBN		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	A		-		48704928	-1	no_errors	ENST00000316623	ensembl	human	known	74_37	silent	SNP	0.997	G	G	48704928	A	G	48704928	2	3	238	1	0	0	0	0	0	0	0	1	5704	175	7	5		5	FBN1	15	48704928	Silent	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	13621599	48704928	53826464	64	19343											
ANKDD1A	348094	genome.wustl.edu	37	chr15	65239646	65239646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccagtgatccctctgGgaagagcttgtcctttaagc	9	14	1	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr15:65239646G>T	ENST00000380230.3	+	13	1213	c.1184G>T	c.(1183-1185)gGg>gTg	p.G395V	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G395V|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G363V|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G272V	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	395					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GATCCCTCTGGGAAGAGCTTG	0.612																																																	0								ENSG00000166839						45	44	44					15																	65239646		2202	4299	6501	ANKDD1A	SO:0001583	missense	0			-	HGNC		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1184G>T	15.37:g.65239646G>T	ENSP00000369579:p.Gly395Val	Somatic	0	55	0		0.495611309271502	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt	p.G395V	ENST00000380230.3	37	c.1184	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078105	0.20227	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.38240	1.23;1.2;1.26;1.15	4.41	1.1	0.20463	Ankyrin repeat-containing domain (1);	1.050050	0.07549	N	0.915041	T	0.26448	0.0646	L	0.47190	1.495	0.09310	N	1	B	0.27625	0.183	B	0.25140	0.058	T	0.28713	-1.0035	10	0.15952	T	0.53	-4.2248	3.9457	0.09347	0.0936:0.2673:0.4873:0.1518	.	395	Q495B1	AKD1A_HUMAN	V	395;363;395;272	ENSP00000369579:G395V;ENSP00000350329:G363V;ENSP00000379070:G395V;ENSP00000379073:G272V	ENSP00000350329:G363V	G	+	2	0	ANKDD1A	63026699	0.996000	0.38824	0.068000	0.19968	0.836000	0.47400	2.444000	0.44890	0.477000	0.27464	0.655000	0.94253	GGG	-	superfamily_Ankyrin_rpt-contain_dom		0.612	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	protein_coding	OTTHUMT00000256705.2	G	NM_182703	-		65239646	1	no_errors	ENST00000380230	ensembl	human	known	74_37	missense	SNP	0.002	T	T	65239646	G	T	65239646	3	4	238	1	0	0	0	0	1	0	0	0	624	1232	43	3	1234	3	ANKDD1A	15	65239646	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	16534718	65239646	37291746	65	19344											
CIITA	4261	genome.wustl.edu	37	chr16	11000787	11000787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacagccactcgtggcgGccgatgaggttttcagccac	12	15	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr16:11000787G>A	ENST00000324288.8	+	11	1571	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	480	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACTCGTGGCGGCCGATGAGGT	0.592			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0								ENSG00000179583						67	69	68					16																	11000787		2195	4293	6488	CIITA	SO:0001583	missense	0			-	HGNC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1438G>A	16.37:g.11000787G>A	ENSP00000316328:p.Ala480Thr	Somatic	0	87	0		0.495611309271502	19	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.A480T	ENST00000324288.8	37	c.1438	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222236	0.09863	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	D	0.81579	-1.51	5.27	4.22	0.49857	NACHT nucleoside triphosphatase (1);	0.455261	0.20291	N	0.095238	T	0.63224	0.2493	N	0.14661	0.345	0.09310	N	0.999993	B;B;B;B	0.28783	0.034;0.076;0.067;0.222	B;B;B;B	0.33960	0.05;0.102;0.03;0.173	T	0.49872	-0.8893	10	0.33141	T	0.24	.	4.1344	0.10164	0.31:0.0:0.69:0.0	.	480;480;432;480	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	T	480;432	ENSP00000316328:A480T	ENSP00000316328:A480T	A	+	1	0	CIITA	10908288	0.028000	0.19301	0.068000	0.19968	0.003000	0.03518	2.309000	0.43699	2.442000	0.82660	0.561000	0.74099	GCC	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.592	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	protein_coding	OTTHUMT00000251966.2	G	NM_000246	-		11000787	1	no_errors	ENST00000324288	ensembl	human	known	74_37	missense	SNP	0.009	A	A	11000787	G	A	11000787	3	1	238	1	0	0	0	0	1	0	0	0	3430	1203	42	2	1480	2	CIITA	16	11000787	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		11000787	79353966	66	19345											
CACNG3	10368	genome.wustl.edu	37	chr16	24372825	24372825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgtaggagtggttgccGtgcacatctatattgaaaaa	10	5	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr16:24372825G>A	ENST00000005284.3	+	4	1791	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	197					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	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)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGTGGTTGCCGTGCACATCTA	0.478																																																	0								ENSG00000006116						130	127	128					16																	24372825		2197	4300	6497	CACNG3	SO:0001583	missense	0			-	HGNC	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.589G>A	16.37:g.24372825G>A	ENSP00000005284:p.Val197Met	Somatic	0	128	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	13.16		Missense_Mutation	SNP							pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.V197M	ENST00000005284.3	37	c.589	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394162	0.83011	.	.	ENSG00000006116	ENST00000005284	D	0.81579	-1.51	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.90381	0.4388	10	0.56958	D	0.05	-12.108	17.8423	0.88718	0.0:0.0:1.0:0.0	.	197	O60359	CCG3_HUMAN	M	197	ENSP00000005284:V197M	ENSP00000005284:V197M	V	+	1	0	CACNG3	24280326	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	GTG	-	NULL		0.478	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	protein_coding	OTTHUMT00000254548.1	G	NM_006539	-		24372825	1	no_errors	ENST00000005284	ensembl	human	known	74_37	missense	SNP	1.000	A	A	24372825	G	A	24372825	3	1	238	1	0	0	0	0	1	0	0	0	2560	1145	40	1	603	1	CACNG3	16	24372825	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	13372038	24372825	65981928	67	19346											
CCDC113	29070	genome.wustl.edu	37	chr16	58296368	58296368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaatttcttgagacaaTtgaagcaaggaatcaagaac	8	8	3	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr16:58296368T>C	ENST00000219299.4	+	6	786	c.707T>C	c.(706-708)aTt>aCt	p.I236T	CCDC113_ENST00000443128.2_Missense_Mutation_p.I182T	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	236						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CTTGAGACAATTGAAGCAAGG	0.448																																																	0								ENSG00000103021						151	135	141					16																	58296368		2198	4300	6498	CCDC113	SO:0001583	missense	0			-	HGNC	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.707T>C	16.37:g.58296368T>C	ENSP00000219299:p.Ile236Thr	Somatic	0	97	0		0.495611309271502	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP							NULL	p.I236T	ENST00000219299.4	37	c.707	CCDS10795.1	16	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931275	0.73327	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.50548	0.86;0.74	5.71	5.71	0.89125	.	0.457372	0.24488	N	0.038098	T	0.67534	0.2903	M	0.91459	3.21	0.49915	D	0.999833	D;D	0.58268	0.982;0.982	P;P	0.52159	0.691;0.691	T	0.76479	-0.2944	10	0.87932	D	0	-5.3034	13.9205	0.63928	0.0:0.0:0.0:1.0	.	182;236	B4DR20;Q9H0I3	.;CC113_HUMAN	T	182;236	ENSP00000402588:I182T;ENSP00000219299:I236T	ENSP00000219299:I236T	I	+	2	0	CCDC113	56853869	1.000000	0.71417	0.969000	0.41365	0.749000	0.42624	5.863000	0.69568	2.185000	0.69588	0.523000	0.50628	ATT	-	NULL		0.448	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC113	protein_coding	OTTHUMT00000257387.2	T	NM_014157	-		58296368	1	no_errors	ENST00000219299	ensembl	human	known	74_37	missense	SNP	1.000	C	C	58296368	T	C	58296368	3	2	238	1	0	0	0	0	1	0	0	0	2752	1493	52	5	729	5	CCDC113	16	58296368	Missense_Mutation	SNP	T	TCGA-X6-A8C6-01A-11D-A36J-09	33923543	58296368	32058385	68	19347											
SLC7A5	8140	genome.wustl.edu	37	chr16	87873327	87873327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacggccacggcctcggacGacagcatctgctcggtggac	13	16	1	0	rs202090522		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr16:87873327G>A	ENST00000261622.4	-	5	985	c.920C>T	c.(919-921)tCg>tTg	p.S307L	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.S41L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	307					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGCCTCGGACGACAGCATCTG	0.672													G|||	1	0.000199681	0	0.0014	5008	,	,		16640	0		0	False		,,,				2504	0																0								ENSG00000103257	G	LEU/SER	0,4396		0,0,2198	120	91	101		920	2	0	16		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC7A5	NM_003486.5	145	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	307/508	87873327	1,12995	2198	4300	6498	SLC7A5	SO:0001583	missense	0			GMAF=0	HGNC	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.920C>T	16.37:g.87873327G>A	ENSP00000261622:p.Ser307Leu	Somatic	0	135	0		0.495611309271502	32	25.58	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP							pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.S307L	ENST00000261622.4	37	c.920	CCDS10964.1	16	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	7.355	0.623661	0.14193	0.0	1.16E-4	ENSG00000103257	ENST00000261622	D	0.89415	-2.51	5.41	2.05	0.26809	Amino acid permease domain (1);	1.321610	0.04982	N	0.465871	D	0.87466	0.6184	M	0.73430	2.235	0.09310	N	1	B	0.25743	0.133	B	0.15052	0.012	T	0.73350	-0.4010	10	0.66056	D	0.02	.	5.223	0.15379	0.0711:0.2139:0.5115:0.2034	.	307	Q01650	LAT1_HUMAN	L	307	ENSP00000261622:S307L	ENSP00000261622:S307L	S	-	2	0	SLC7A5	86430828	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.157000	0.16402	0.718000	0.32166	0.563000	0.77884	TCG	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.672	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	protein_coding	OTTHUMT00000269110.2	G	NM_003486	rs202090522		87873327	-1	no_errors	ENST00000261622	ensembl	human	known	74_37	missense	SNP	0.000	A	A	87873327	G	A	87873327	3	1	238	1	0	0	0	0	1	0	0	0	14708	1059	37	1	627	1	SLC7A5	16	87873327	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	29576959	87873327	2481426	69	19348											
WDR81	124997	genome.wustl.edu	37	chr17	1630732	1630732	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgctggacacactcctgCagatgagtggccccgaagtc	12	14	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr17:1630732C>T	ENST00000409644.1	+	1	2479	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	WDR81_ENST00000309182.5_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	827					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACACTCCTGCAGATGAGTGG	0.647																																																	0								ENSG00000167716						25	30	28					17																	1630732		691	1590	2281	WDR81	SO:0001587	stop_gained	0			-	HGNC	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.2479C>T	17.37:g.1630732C>T	ENSP00000386609:p.Gln827*	Somatic	0	89	0		0.495611309271502	51	17.74	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	71	24.47	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Nonsense_Mutation	SNP							pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q827*	ENST00000409644.1	37	c.2479	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.483798	0.96307	.	.	ENSG00000167716	ENST00000409644	.	.	.	5.68	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.8895	0.86083	0.0:0.8718:0.1282:0.0	.	.	.	.	X	827	.	ENSP00000386609:Q827X	Q	+	1	0	WDR81	1577482	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	3.202000	0.51067	1.418000	0.47098	-0.233000	0.12211	CAG	-	NULL		0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	C	NM_152348	-		1630732	1	no_errors	ENST00000409644	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	1630732	C	T	1630732	4	4	238	1	0	0	0	0	0	1	0	0	17337	711	25	2	2543	2	WDR81	17	1630732	Nonsense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		1630732	79564478	70	19349											
TMEM88	92162	genome.wustl.edu	37	chr17	7758593	7758593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcttcggcttcctctgCcactctcaggtgagcgtgcg	13	14	2	1	rs373749404		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr17:7758593C>T	ENST00000301599.6	+	1	211	c.201C>T	c.(199-201)tgC>tgT	p.C67C	CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|TMEM88_ENST00000574668.1_Silent_p.C67C|LSMD1_ENST00000570555.1_5'Flank	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	67					multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				GCTTCCTCTGCCACTCTCAGG	0.607																																																	0								ENSG00000167874	C		0,4404		0,0,2202	49	39	42		201	2.5	1	17		42	1,8595		0,1,4297	no	coding-synonymous	TMEM88	NM_203411.1		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		67/160	7758593	1,12999	2202	4298	6500	TMEM88	SO:0001819	synonymous_variant	0			-	HGNC	BC057812	CCDS11121.1	17p13.1	2005-12-13				ENSG00000167874			32371	protein-coding gene	gene with protein product							Standard	NM_203411		Approved	MGC71744, FLJ20025	uc002giy.3	Q6PEY1		ENST00000301599.6:c.201C>T	17.37:g.7758593C>T		Somatic	0	37	0		0.495611309271502	162	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP							NULL	p.C67	ENST00000301599.6	37	c.201	CCDS11121.1	17																																																																																			-	NULL		0.607	TMEM88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM88	protein_coding	OTTHUMT00000440252.1	C	NM_203411	-		7758593	1	no_errors	ENST00000301599	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7758593	C	T	7758593	2	4	238	1	0	0	0	0	0	0	0	1	16219	747	26	2		2	TMEM88	17	7758593	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	6127861	7758593	73436617	71	19350											
CACNA1G	8913	genome.wustl.edu	37	chr17	48647081	48647081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggatgctggagtactCgctggacctgcagaacgtca	13	11	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr17:48647081C>T	ENST00000359106.5	+	4	503	c.503C>T	c.(502-504)tCg>tTg	p.S168L	CACNA1G_ENST00000358244.5_Missense_Mutation_p.S168L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S168L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S168L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S168L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S168L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S168L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S168L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S168L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S168L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S168L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	168					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)	CTGGAGTACTCGCTGGACCTG	0.602																																																	0								ENSG00000006283						23	29	27					17																	48647081		1804	3547	5351	CACNA1G	SO:0001583	missense	0			-	HGNC	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.503C>T	17.37:g.48647081C>T	ENSP00000352011:p.Ser168Leu	Somatic	0	80	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	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							pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.S168L	ENST00000359106.5	37	c.503	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	25.6	4.659823	0.88154	.	.	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	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.25	5.25	0.73442	Ion transport (1);	0.133904	0.52532	D	0.000065	D	0.98523	0.9507	L	0.53249	1.67	0.80722	D	1	P;D;P;B;P;P;P;P;P;P;P;D;D;P;P;P;P;P;P;D;B;D;P;P;D;P	0.89917	0.486;0.99;0.707;0.389;0.819;0.538;0.538;0.707;0.538;0.46;0.941;0.972;0.978;0.575;0.674;0.553;0.538;0.618;0.819;0.978;0.235;0.994;0.707;0.538;1.0;0.482	B;D;P;B;P;B;B;P;B;B;P;P;P;P;B;B;B;B;P;P;B;P;P;B;D;B	0.85130	0.167;0.933;0.597;0.291;0.597;0.118;0.237;0.597;0.237;0.108;0.653;0.758;0.844;0.498;0.237;0.399;0.118;0.138;0.597;0.844;0.058;0.844;0.529;0.362;0.997;0.072	D	0.99029	1.0820	10	0.40728	T	0.16	.	18.8384	0.92172	0.0:1.0:0.0:0.0	.	168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168;168	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;.;.	L	168	ENSP00000353990:S168L;ENSP00000339302:S168L;ENSP00000392390:S168L;ENSP00000347078:S168L;ENSP00000409759:S168L;ENSP00000425522:S168L;ENSP00000426261:S168L;ENSP00000425451:S168L;ENSP00000422407:S168L;ENSP00000426814:S168L;ENSP00000427238:S168L;ENSP00000423112:S168L;ENSP00000420918:S168L;ENSP00000426172:S168L;ENSP00000423045:S168L;ENSP00000427173:S168L;ENSP00000426098:S168L;ENSP00000425698:S168L;ENSP00000426232:S168L;ENSP00000423317:S168L;ENSP00000350979:S168L;ENSP00000352011:S168L;ENSP00000414388:S168L;ENSP00000423155:S168L;ENSP00000422268:S168L;ENSP00000421518:S168L	ENSP00000339302:S168L	S	+	2	0	CACNA1G	46002080	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.075000	0.71261	2.457000	0.83068	0.407000	0.27541	TCG	-	pfam_Ion_trans_dom		0.602	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	C	NM_018896	-		48647081	1	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	SNP	1.000	T	T	48647081	C	T	48647081	3	4	238	1	0	0	0	0	1	0	0	0	2546	893	31	1	517	1	CACNA1G	17	48647081	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	40888488	48647081	32548129	72	19351											
BCAS3	54828	genome.wustl.edu	37	chr17	59161917	59161917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttccacagtgattgatgCtgcctcaggtagaaaaccac	9	10	1	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr17:59161917C>T	ENST00000390652.5	+	23	2493	c.2462C>T	c.(2461-2463)gCt>gTt	p.A821V	BCAS3_ENST00000585744.1_Missense_Mutation_p.A592V|BCAS3_ENST00000588874.1_Missense_Mutation_p.A577V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A821V|BCAS3_ENST00000408905.3_Missense_Mutation_p.A806V|BCAS3_ENST00000589222.1_Missense_Mutation_p.A806V|BCAS3_ENST00000407086.3_Missense_Mutation_p.A806V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTGATTGATGCTGCCTCAGGT	0.473																																																	0								ENSG00000141376						65	65	65					17																	59161917		1931	4158	6089	BCAS3	SO:0001583	missense	0			-	HGNC	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2462C>T	17.37:g.59161917C>T	ENSP00000375067:p.Ala821Val	Somatic	0	50	0		0.495611309271502	25	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04		Missense_Mutation	SNP							pfam_BCAS3,pfam_WD40_repeat	p.A821V	ENST00000390652.5	37	c.2462	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980937	0.53827	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.31510	1.51;1.5;1.49	5.92	5.92	0.95590	.	0.055536	0.64402	D	0.000001	T	0.26738	0.0654	N	0.24115	0.695	0.42608	D	0.993308	P;P;P;B;P	0.36909	0.562;0.465;0.573;0.437;0.573	B;B;B;B;B	0.36666	0.202;0.23;0.164;0.079;0.164	T	0.02345	-1.1173	10	0.39692	T	0.17	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	806;821;806;821;806	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	V	821;806;806	ENSP00000375067:A821V;ENSP00000385323:A806V;ENSP00000386173:A806V	ENSP00000375067:A821V	A	+	2	0	BCAS3	56516699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.523000	0.67099	2.809000	0.96659	0.655000	0.94253	GCT	-	NULL		0.473	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	protein_coding	OTTHUMT00000449578.1	C	NM_017679	-		59161917	1	no_errors	ENST00000390652	ensembl	human	known	74_37	missense	SNP	1.000	T	T	59161917	C	T	59161917	3	4	238	1	0	0	0	0	1	0	0	0	1352	797	28	2	2548	2	BCAS3	17	59161917	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	10514836	59161917	22033293	73	19352											
TBCD	6904	genome.wustl.edu	37	chr17	80828208	80828208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgctgggccttcgcgcGtgcctatgagcctcaggagc	15	13	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr17:80828208G>A	ENST00000355528.4	+	14	1557	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H	TBCD_ENST00000397466.2_Missense_Mutation_p.R90H|TBCD_ENST00000539345.2_Missense_Mutation_p.R476H	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	476					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTTCGCGCGTGCCTATGAG	0.652																																																	0								ENSG00000141556						34	40	38					17																	80828208		2159	4256	6415	TBCD	SO:0001583	missense	0			-	HGNC	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1427G>A	17.37:g.80828208G>A	ENSP00000347719:p.Arg476His	Somatic	0	30	0		0.495611309271502	111	14.62	19	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.00	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP							pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.R476H	ENST00000355528.4	37	c.1427	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.446612	0.96205	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.51071	0.72;0.72	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.83972	0.0327	9	.	.	.	.	16.1871	0.81960	0.0:0.0:1.0:0.0	.	476;476;476	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	H	476;227;90;476	ENSP00000347719:R476H;ENSP00000380608:R90H	.	R	+	2	0	TBCD	78421497	1.000000	0.71417	0.852000	0.33557	0.918000	0.54935	8.856000	0.92245	2.591000	0.87537	0.655000	0.94253	CGT	-	superfamily_ARM-type_fold		0.652	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	protein_coding	OTTHUMT00000439415.1	G	NM_005993	-		80828208	1	no_errors	ENST00000355528	ensembl	human	known	74_37	missense	SNP	0.949	A	A	80828208	G	A	80828208	3	1	238	1	0	0	0	0	1	0	0	0	15640	1145	40	1	1481	1	TBCD	17	80828208	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	21666291	80828208	367002	74	19353											
EMILIN2	84034	genome.wustl.edu	37	chr18	2847815	2847815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaccccaggaactggtGcgcctacatcgtgaacaaga	10	14	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr18:2847815G>T	ENST00000254528.3	+	2	302	c.143G>T	c.(142-144)tGc>tTc	p.C48F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	48	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGAACTGGTGCGCCTACATC	0.592																																																	0								ENSG00000132205						80	72	75					18																	2847815		2203	4300	6503	EMILIN2	SO:0001583	missense	0			-	HGNC	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.143G>T	18.37:g.2847815G>T	ENSP00000254528:p.Cys48Phe	Somatic	0	74	0		0.495611309271502	181	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP							pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.C48F	ENST00000254528.3	37	c.143	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289487	0.80914	.	.	ENSG00000132205	ENST00000254528	D	0.89617	-2.54	5.5	5.5	0.81552	EMI domain (2);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96257	0.9188	10	0.87932	D	0	-19.3618	19.3849	0.94553	0.0:0.0:1.0:0.0	.	48	Q9BXX0	EMIL2_HUMAN	F	48	ENSP00000254528:C48F	ENSP00000254528:C48F	C	+	2	0	EMILIN2	2837815	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.799000	0.85936	2.584000	0.87258	0.650000	0.86243	TGC	-	pfam_EMI_domain,pfscan_EMI_domain		0.592	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	protein_coding	OTTHUMT00000250337.2	G	NM_032048	-		2847815	1	no_errors	ENST00000254528	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2847815	G	T	2847815	3	4	238	1	0	0	0	0	1	0	0	0	5096	1319	46	3	149	3	EMILIN2	18	2847815	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		2847815	75229433	75	19354											
FUT5	2527	genome.wustl.edu	37	chr19	5867290	5867290	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttgctgggggactccatGctgaaccagatccagcgctg	13	12	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr19:5867290G>T	ENST00000588525.1	-	2	534	c.447C>A	c.(445-447)agC>agA	p.S149R	FUT5_ENST00000252675.5_Missense_Mutation_p.S149R	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	149					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGGACTCCATGCTGAACCAGA	0.627																																																	0								ENSG00000130383						50	44	46					19																	5867290		2203	4299	6502	FUT5	SO:0001583	missense	0			-	HGNC		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.447C>A	19.37:g.5867290G>T	ENSP00000466880:p.Ser149Arg	Somatic	0	76	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8K4X2	Missense_Mutation	SNP							pfam_Glyco_trans_10	p.S149R	ENST00000588525.1	37	c.447	CCDS12154.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366413	0.24771	.	.	ENSG00000130383	ENST00000252675	T	0.24908	1.83	2.17	1.11	0.20524	.	0.188472	0.35970	U	0.002861	T	0.40119	0.1104	M	0.92691	3.335	0.09310	N	1	P	0.41546	0.754	P	0.47603	0.551	T	0.35325	-0.9793	10	0.87932	D	0	.	3.6185	0.08086	0.3754:0.0:0.6246:0.0	.	149	Q11128	FUT5_HUMAN	R	149	ENSP00000252675:S149R	ENSP00000252675:S149R	S	-	3	2	FUT5	5818290	0.019000	0.18553	0.007000	0.13788	0.007000	0.05969	1.993000	0.40747	1.211000	0.43351	0.407000	0.27541	AGC	-	pfam_Glyco_trans_10		0.627	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	protein_coding	OTTHUMT00000452213.1	G	NM_002034	-		5867290	-1	no_errors	ENST00000252675	ensembl	human	known	74_37	missense	SNP	0.110	T	T	5867290	G	T	5867290	3	4	238	1	0	0	0	0	1	0	0	0	6109	1310	46	3	681	3	FUT5	19	5867290	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		5867290	53261693	76	19355											
CACNA1A	773	genome.wustl.edu	37	chr19	13373594	13373594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaagaggtcgtagcaccCggaggactcggagggattta	14	7	0	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr19:13373594C>T	ENST00000360228.5	-	25	4042	c.4043G>A	c.(4042-4044)cGg>cAg	p.R1348Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1349Q	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	1349					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)			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)	TCGTAGCACCCGGAGGACTCG	0.522											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000141837						119	115	116					19																	13373594		1910	4129	6039	CACNA1A	SO:0001583	missense	0			-	HGNC	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.4043G>A	19.37:g.13373594C>T	ENSP00000353362:p.Arg1348Gln	Somatic	0	128	0	687	0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	71	12.35	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.R1348Q	ENST00000360228.5	37	c.4043	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487612	0.84854	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98762	-5.12	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99480	0.9815	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.98254	1.0495	10	0.87932	D	0	.	17.9649	0.89097	0.0:1.0:0.0:0.0	.	1349;1352;1348	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	Q	1348;1352;1349;1349	ENSP00000353362:R1348Q	ENSP00000317661:R1349Q	R	-	2	0	CACNA1A	13234594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.712000	0.84684	2.536000	0.85505	0.561000	0.74099	CGG	-	pfam_Ion_trans_dom		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	C	NM_000068	-		13373594	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	SNP	1.000	T	T	13373594	C	T	13373594	3	4	238	1	0	0	0	0	1	0	0	0	2540	652	23	1	3671	1	CACNA1A	19	13373594	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	7506304	13373594	45755389	77	19356											
UNC13A	23025	genome.wustl.edu	37	chr19	17743633	17743633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaaggcgggaagttccGtcacatactcattgtagagc	11	10	2	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr19:17743633G>A	ENST00000519716.2	-	28	3385	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T1129M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1129M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1129M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T1217M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1127M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1129	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGAAGTTCCGTCACATACTC	0.552																																																	0								ENSG00000130477						110	115	113					19																	17743633		2138	4266	6404	UNC13A	SO:0001583	missense	0			-	HGNC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3386C>T	19.37:g.17743633G>A	ENSP00000429562:p.Thr1129Met	Somatic	0	58	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	E5RHY9	Missense_Mutation	SNP							pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T1217M	ENST00000519716.2	37	c.3650	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	g	11.89	1.772479	0.31411	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80566	-1.38;-1.39;-1.38;-1.25;-1.25;-1.38	3.63	3.63	0.41609	Munc13 homology 1 (1);	0.458026	0.22031	U	0.065584	T	0.60996	0.2312	N	0.03608	-0.345	0.21719	N	0.999578	B	0.17465	0.022	B	0.15052	0.012	T	0.57831	-0.7743	10	0.54805	T	0.06	.	12.7958	0.57558	0.0:0.0:1.0:0.0	.	1129	Q9UPW8	UN13A_HUMAN	M	1129;1217;1129;1129;1129;1127	ENSP00000429562:T1129M;ENSP00000400409:T1217M;ENSP00000252773:T1129M;ENSP00000447236:T1129M;ENSP00000447572:T1129M;ENSP00000446831:T1127M	ENSP00000252773:T1129M	T	-	2	0	UNC13A	17604633	1.000000	0.71417	0.983000	0.44433	0.877000	0.50540	4.904000	0.63279	1.585000	0.49928	0.298000	0.19748	ACG	-	NULL		0.552	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	protein_coding	OTTHUMT00000376169.2	G	XM_038604	-		17743633	-1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	SNP	0.985	A	A	17743633	G	A	17743633	3	1	238	1	0	0	0	0	1	0	0	0	16991	1145	40	1	1789	1	UNC13A	19	17743633	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	4370039	17743633	41385350	78	19357											
KIR2DL1	3811	genome.wustl.edu	37	chr19	55284998	55284998	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcatgacgcaagacctggCagggacctacagatgctacg	12	12	0	3			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr19:55284998C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A95V|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A95V|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAAGACCTGGCAGGGACCTAC	0.537																																																	0								ENSG00000125498						268	238	248					19																	55284998		2178	4211	6389	KIR2DL1	SO:0001627	intron_variant	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-43991C>T	19.37:g.55284998C>T		Somatic	0	288	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	131	30.32	O43473|Q14946|Q16541	Missense_Mutation	SNP							pfam_Immunoglobulin,smart_Ig_sub	p.A95V	ENST00000538269.1	37	c.284		19	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818144	0.32145	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.25085	1.82;1.82	1.24	-2.48	0.06423	.	.	.	.	.	T	0.39064	0.1064	M	0.83603	2.65	0.09310	N	1	D;D	0.71674	0.998;0.993	P;P	0.59825	0.864;0.674	T	0.31668	-0.9935	9	0.87932	D	0	.	0.3152	0.00294	0.2484:0.2941:0.2477:0.2098	.	95;95	Q6IST4;Q6H2H3	.;.	V	95	ENSP00000336769:A95V;ENSP00000291633:A95V	ENSP00000291633:A95V	A	+	2	0	KIR2DL1	59976810	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.593000	0.02096	-1.191000	0.02695	0.398000	0.26397	GCA	-	pfam_Immunoglobulin,smart_Ig_sub		0.537	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	protein_coding		C	NM_013289	-		55284998	1	no_errors	ENST00000336077	ensembl	human	known	74_37	missense	SNP	0.000	T	T	55284998	C	T	55284998	1	4	238	0	1	0	0	0	0	0	0	0	8318	710	25	2		2	KIR2DL1	19	55284998	Intron	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	37541365	55284998	3843985	79	19358											
APCDD1L	164284	genome.wustl.edu	37	chr20	57042566	57042566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacccaggaggcccggcGcaggcggactttgcccttga	16	13	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr20:57042566G>A	ENST00000371149.3	-	3	567	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	APCDD1L_ENST00000439429.1_Missense_Mutation_p.R124C	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	113						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GAGGCCCGGCGCAGGCGGACT	0.682																																																	0								ENSG00000198768						13	16	15					20																	57042566		2199	4295	6494	APCDD1L	SO:0001583	missense	0			-	HGNC	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.337C>T	20.37:g.57042566G>A	ENSP00000360191:p.Arg113Cys	Somatic	0	33	0		0.495611309271502	14	44	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57		Missense_Mutation	SNP							NULL	p.R124C	ENST00000371149.3	37	c.370	CCDS13467.1	20	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778188	0.90195	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.21031	2.03;2.03	5.12	4.18	0.49190	.	0.127043	0.56097	D	0.000034	T	0.48370	0.1496	M	0.83603	2.65	0.46241	D	0.998942	P;D	0.89917	0.933;1.0	B;D	0.72982	0.245;0.979	T	0.55661	-0.8106	10	0.87932	D	0	-36.4835	13.4214	0.61001	0.0759:0.0:0.9241:0.0	.	124;113	F5H6V6;Q8NCL9	.;APCDL_HUMAN	C	113;124	ENSP00000360191:R113C;ENSP00000413261:R124C	ENSP00000360191:R113C	R	-	1	0	APCDD1L	56475972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.053000	0.64269	1.171000	0.42768	0.555000	0.69702	CGC	-	NULL		0.682	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APCDD1L	protein_coding	OTTHUMT00000079881.2	G	NM_153360	-		57042566	-1	no_errors	ENST00000439429	ensembl	human	known	74_37	missense	SNP	1.000	A	A	57042566	G	A	57042566	3	1	238	1	0	0	0	0	1	0	0	0	766	1087	38	1	1176	1	APCDD1L	20	57042566	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		57042566	5982954	80	19359											
KCNQ2	3785	genome.wustl.edu	37	chr20	62038497	62038497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacactggacagggggcgCggccgggggcgccgagaagt	21	11	0	1	rs543477138		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr20:62038497C>T	ENST00000359125.2	-	17	2293	c.2119G>A	c.(2119-2121)Gcg>Acg	p.A707T	KCNQ2_ENST00000344462.4_Missense_Mutation_p.A676T|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A715T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A689T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A715T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A707T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A679T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	707					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)			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)	ACAgggggcgcggccgggggc	0.711																																																	0								ENSG00000075043						5	6	5					20																	62038497		2041	4078	6119	KCNQ2	SO:0001583	missense	0			-	HGNC	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.2119G>A	20.37:g.62038497C>T	ENSP00000352035:p.Ala707Thr	Somatic	0	35	0		0.495611309271502	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.A715T	ENST00000359125.2	37	c.2143	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	3.761	-0.049564	0.07407	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99005	-5.17;-5.32;-5.32;-5.11;-5.32;-5.17;-5.17;-5.26;-5.11	4.5	0.844	0.18943	.	0.510450	0.17649	U	0.166750	D	0.92948	0.7756	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.0	D	0.87991	0.2749	10	0.15066	T	0.55	-18.663	8.3989	0.32574	0.0:0.5829:0.0:0.4171	.	679;689;676;707	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	T	689;707;677;715;707;676;679;703;715	ENSP00000349789:A689T;ENSP00000352035:A707T;ENSP00000359246:A677T;ENSP00000346601:A715T;ENSP00000352718:A707T;ENSP00000399612:A676T;ENSP00000353668:A679T;ENSP00000339611:A703T;ENSP00000359244:A715T	ENSP00000339611:A703T	A	-	1	0	KCNQ2	61508941	0.000000	0.05858	0.004000	0.12327	0.148000	0.21650	0.648000	0.24828	0.331000	0.23511	0.491000	0.48974	GCG	-	NULL		0.711	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	C	NM_172109	-		62038497	-1	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	SNP	0.000	T	T	62038497	C	T	62038497	3	4	238	1	0	0	0	0	1	0	0	0	8085	768	27	1	503	1	KCNQ2	20	62038497	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	4995931	62038497	987023	81	19360											
RTEL1	8771	genome.wustl.edu	37	chr20	62326741	62326741	+	5'Flank	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctcgtccttccttagacAgaggccagcagggactgtgg	13	11	1	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr20:62326741A>G	ENST00000369996.1	+	0	0				RTEL1_ENST00000318100.4_Missense_Mutation_p.Q1187R|RTEL1_ENST00000508582.2_Missense_Mutation_p.Q1211R|RTEL1_ENST00000370018.3_Missense_Mutation_p.Q1187R|RTEL1_ENST00000370003.1_Missense_Mutation_p.Q432R|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.Q1187R|RTEL1_ENST00000360203.5_Missense_Mutation_p.Q1187R	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			TTCCTTAGACAGAGGCCAGCA	0.652																																																	0								ENSG00000258366						71	85	80					20																	62326741		2198	4287	6485	RTEL1	SO:0001631	upstream_gene_variant	0			-	HGNC	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326741A>G	Exception_encountered	Somatic	0	286	0		0.495611309271502	93	23.14	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	272	21.39		Missense_Mutation	SNP							pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.Q1187R	ENST00000369996.1	37	c.3560	CCDS13532.1	20	.	.	.	.	.	.	.	.	.	.	A	11.43	1.635483	0.29068	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;T;T	0.81996	-1.56;-1.51;-1.52;-1.47;0.9	4.15	-0.752	0.11072	.	1.986640	0.02486	N	0.088974	T	0.71871	0.3391	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.15473	0.004;0.013;0.001;0.004	B;B;B;B	0.12156	0.003;0.007;0.001;0.004	T	0.54609	-0.8268	10	0.38643	T	0.18	-0.9481	3.7612	0.08604	0.456:0.2045:0.3395:0.0	.	1211;432;1187;1187	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	1187;1187;1211;1187;432	ENSP00000359035:Q1187R;ENSP00000322287:Q1187R;ENSP00000424307:Q1211R;ENSP00000353332:Q1187R;ENSP00000359020:Q432R	ENSP00000353332:Q1187R	Q	+	2	0	AL353715.1	61797185	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.439000	0.06897	-0.055000	0.13244	0.379000	0.24179	CAG	-	NULL		0.652	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTEL1	protein_coding	OTTHUMT00000080182.1	A		-		62326741	1	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	SNP	0.000	G	G	62326741	A	G	62326741	1	3	238	0	1	0	0	0	0	0	0	0	13728	188	7	5		5	RTEL1	20	62326741	5'Flank	SNP	A	TCGA-X6-A8C6-01A-11D-A36J-09	288244	62326741	698779	82	19361											
NDUFV3	4731	genome.wustl.edu	37	chr21	44328980	44328980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcctccgcagagccagCcccagtgcctgctgagccgt	11	16	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr21:44328980C>T	ENST00000340344.4	+	3	242	c.176C>T	c.(175-177)gCc>gTc	p.A59V	NDUFV3_ENST00000354250.2_Missense_Mutation_p.A424V|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	59					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GCAGAGCCAGCCCCAGTGCCT	0.522																																																	0								ENSG00000160194						180	149	160					21																	44328980		2203	4300	6503	NDUFV3	SO:0001583	missense	0			-	HGNC		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.176C>T	21.37:g.44328980C>T	ENSP00000342895:p.Ala59Val	Somatic	0	129	0		0.495611309271502	180	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP							NULL	p.A424V	ENST00000340344.4	37	c.1271	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964355	0.34659	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	4.64	1.72	0.24424	.	0.311804	0.23629	N	0.046152	T	0.31358	0.0794	L	0.47716	1.5	0.09310	N	1	B;B	0.25563	0.0;0.129	B;B	0.26202	0.003;0.067	T	0.22906	-1.0203	9	0.52906	T	0.07	-0.5713	4.9408	0.13965	0.0:0.452:0.2907:0.2573	.	59;424	P56181;P56181-2	NDUV3_HUMAN;.	V	424;59;63	.	ENSP00000342895:A59V	A	+	2	0	NDUFV3	43202049	0.097000	0.21791	0.000000	0.03702	0.003000	0.03518	1.720000	0.38022	0.234000	0.21139	0.551000	0.68910	GCC	-	NULL		0.522	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	protein_coding	OTTHUMT00000195448.2	C		-		44328980	1	no_errors	ENST00000354250	ensembl	human	known	74_37	missense	SNP	0.001	T	T	44328980	C	T	44328980	3	4	238	1	0	0	0	0	1	0	0	0	10303	739	26	2	1285	2	NDUFV3	21	44328980	Missense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		44328980	3800915	83	19362											
CRYBB2	1415	genome.wustl.edu	37	chr22	25620893	25620893	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctcttgcagatcatcatCtttgagcaggaaaactttca	6	10	5	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr22:25620893C>A	ENST00000398215.2	+	3	234	c.63C>A	c.(61-63)atC>atA	p.I21I		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	21	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AGATCATCATCTTTGAGCAGG	0.542																																																	0								ENSG00000244752						101	87	92					22																	25620893		2203	4300	6503	CRYBB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.63C>A	22.37:g.25620893C>A		Somatic	0	91	0		0.495611309271502	0	100	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	51	34.62	Q9UCM8	Silent	SNP							pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.I21	ENST00000398215.2	37	c.63	CCDS13831.1	22																																																																																			-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.542	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB2	protein_coding	OTTHUMT00000320350.1	C	NM_000496	-		25620893	1	no_errors	ENST00000398215	ensembl	human	known	74_37	silent	SNP	1.000	A	A	25620893	C	A	25620893	2	1	238	1	0	0	0	0	0	0	0	1	3913	903	32	3		3	CRYBB2	22	25620893	Silent	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09		25620893	25683673	84	19363											
MYO18B	84700	genome.wustl.edu	37	chr22	26239728	26239728	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctgcggacctgtgagCagcccctccagtgtgagatt	12	14	0	2			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr22:26239728C>T	ENST00000407587.2	+	18	3407	c.3238C>T	c.(3238-3240)Cag>Tag	p.Q1080*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q1079*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q1079*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1079	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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						GACCTGTGAGCAGCCCCTCCA	0.602																																																	0								ENSG00000133454						103	106	105					22																	26239728		2039	4185	6224	MYO18B	SO:0001587	stop_gained	0			-	HGNC	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.3238C>T	22.37:g.26239728C>T	ENSP00000386096:p.Gln1080*	Somatic	0	42	0		0.495611309271502	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP							pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1079*	ENST00000407587.2	37	c.3235		22	.	.	.	.	.	.	.	.	.	.	C	45	11.468392	0.99565	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.71	4.71	0.59529	.	0.137995	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	15.2251	0.73345	0.0:1.0:0.0:0.0	.	.	.	.	X	1079;1079;1080	.	ENSP00000334563:Q1079X	Q	+	1	0	MYO18B	24569728	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.721000	0.38032	2.451000	0.82905	0.650000	0.86243	CAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	C	NM_032608	-		26239728	1	no_errors	ENST00000335473	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	26239728	C	T	26239728	4	4	238	1	0	0	0	0	0	1	0	0	10068	711	25	2	3301	2	MYO18B	22	26239728	Nonsense_Mutation	SNP	C	TCGA-X6-A8C6-01A-11D-A36J-09	618835	26239728	25064838	85	19364											
HMOX1	3162	genome.wustl.edu	37	chr22	35785936	35785936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccagggcttcgccagcGggccagcaacaaagtgcaag	14	13	0	0	rs201083816		TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chr22:35785936G>A	ENST00000216117.8	+	4	1055	c.716G>A	c.(715-717)cGg>cAg	p.R239Q		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	239					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	CTTCGCCAGCGGGCCAGCAAC	0.557																																																	0								ENSG00000100292	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	40	41	41		716	0.8	0	22		41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HMOX1	NM_002133.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	239/289	35785936	2,13004	2203	4300	6503	HMOX1	SO:0001583	missense	0			-	HGNC		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.716G>A	22.37:g.35785936G>A	ENSP00000216117:p.Arg239Gln	Somatic	0	42	0		0.495611309271502	243	9.33	25	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00		Missense_Mutation	SNP							pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.R239Q	ENST00000216117.8	37	c.716	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605917	0.46527	2.27E-4	1.16E-4	ENSG00000100292	ENST00000216117	T	0.22336	1.96	5.38	0.765	0.18470	Haem oxygenase-like, multi-helical (1);	0.248954	0.34460	N	0.003944	T	0.17238	0.0414	M	0.64997	1.995	0.09310	N	1	B	0.22480	0.07	B	0.08055	0.003	T	0.17684	-1.0361	10	0.54805	T	0.06	-30.3888	4.2542	0.10708	0.2666:0.0:0.5762:0.1572	.	239	P09601	HMOX1_HUMAN	Q	239	ENSP00000216117:R239Q	ENSP00000216117:R239Q	R	+	2	0	HMOX1	34115936	0.002000	0.14202	0.000000	0.03702	0.013000	0.08279	1.170000	0.31883	-0.029000	0.13827	0.561000	0.74099	CGG	-	superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase		0.557	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	protein_coding	OTTHUMT00000320657.1	G		rs201083816		35785936	1	no_errors	ENST00000216117	ensembl	human	known	74_37	missense	SNP	0.000	A	A	35785936	G	A	35785936	3	1	238	1	0	0	0	0	1	0	0	0	7245	1116	39	1	730	1	HMOX1	22	35785936	Missense_Mutation	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09	9546208	35785936	15518630	86	19365											
ZMYM3	9203	genome.wustl.edu	37	chrX	70464192	70464192	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttgctggtttctccattGgcatattttgactgcaccca	7	13	1	1			TCGA-X6-A8C6-01A-11D-A36J-09	TCGA-X6-A8C6-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d08dfae-c1ce-467f-b80f-2ed6f269c01b	b9a5db61-ec3f-4c18-8702-f4f3f32999e8	g.chrX:70464192G>T	ENST00000353904.2	-	20	3427	c.3240C>A	c.(3238-3240)gcC>gcA	p.A1080A	ZMYM3_ENST00000373998.1_Silent_p.A1068A|ZMYM3_ENST00000373988.1_Silent_p.A1082A|ZMYM3_ENST00000314425.5_Silent_p.A1080A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.A1082A	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1080					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTTCTCCATTGGCATATTTTG	0.567																																																	0								ENSG00000147130						103	75	84					X																	70464192		2203	4300	6503	ZMYM3	SO:0001819	synonymous_variant	0			-	HGNC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3240C>A	X.37:g.70464192G>T		Somatic	0	53	0		0.495611309271502	43	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	D3DVV3|O15089|Q96E26	Silent	SNP							pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.A1082	ENST00000353904.2	37	c.3246	CCDS14409.1	X																																																																																			-	NULL		0.567	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	G	NM_201599	-		70464192	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	silent	SNP	1.000	T	T	70464192	G	T	70464192	2	4	238	1	0	0	0	0	0	0	0	1	17708	1335	47	3		3	ZMYM3	23	70464192	Silent	SNP	G	TCGA-X6-A8C6-01A-11D-A36J-09		70464192	84806368	87	19366											
DUSP27	92235	genome.wustl.edu	37	chr1	167096608	167096608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatgctgctgttgtcccGctcaccgtctgttgcaagca	10	12	2	1	rs200160038		TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr1:167096608G>A	ENST00000361200.2	+	6	2406	c.2240G>A	c.(2239-2241)cGc>cAc	p.R747H	DUSP27_ENST00000271385.5_Missense_Mutation_p.R747H|DUSP27_ENST00000443333.1_Missense_Mutation_p.R747H|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	747					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTGTTGTCCCGCTCACCGTCT	0.532																																																	0								ENSG00000198842	G	HIS/ARG	0,4406		0,0,2203	97	80	86		2240	3.9	0.2	1		86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP27	NM_001080426.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	747/1159	167096608	1,13005	2203	4300	6503	DUSP27	SO:0001583	missense	0			-	HGNC	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2240G>A	1.37:g.167096608G>A	ENSP00000354483:p.Arg747His	Somatic	0	37	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	10.26	A0AUM4|Q9C074	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R747H	ENST00000361200.2	37	c.2240	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635565	0.29068	0.0	1.16E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03951	3.75;3.75;3.75	4.82	3.91	0.45181	.	1.602850	0.03625	N	0.236972	T	0.12561	0.0305	M	0.69823	2.125	0.31770	N	0.632267	D	0.89917	1.0	D	0.68621	0.959	T	0.02275	-1.1184	10	0.72032	D	0.01	-13.8117	13.1225	0.59336	0.0772:0.0:0.9228:0.0	.	747	Q5VZP5	DUS27_HUMAN	H	747	ENSP00000354483:R747H;ENSP00000271385:R747H;ENSP00000404874:R747H	ENSP00000271385:R747H	R	+	2	0	DUSP27	165363232	0.979000	0.34478	0.152000	0.22495	0.038000	0.13279	2.591000	0.46163	1.242000	0.43836	-0.148000	0.13756	CGC	-	NULL		0.532	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	protein_coding	OTTHUMT00000083244.1	G	NM_001080426	rs200160038		167096608	1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	SNP	0.840	A	A	167096608	G	A	167096608	3	1	239	1	0	0	0	0	1	0	0	0	4826	1087	38	1	2258	1	DUSP27	1	167096608	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		167096608	82154013	1	19367											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564689	176564689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgacccccaggtggCtgatgtgcgcaagacctgct	13	14	0	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr1:176564689C>T	ENST00000367662.3	+	3	3113	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A650V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	650	Metalloprotease.				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)			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						CCCCAGGTGGCTGATGTGCGC	0.537																																																	0								ENSG00000116183						52	57	55					1																	176564689		2165	4266	6431	PAPPA2	SO:0001583	missense	0			-	HGNC	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.1949C>T	1.37:g.176564689C>T	ENSP00000356634:p.Ala650Val	Somatic	0	50	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.00	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP							pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.A650V	ENST00000367662.3	37	c.1949	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696535	0.48202	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32272	4.7;1.46	5.42	5.42	0.78866	.	0.455547	0.24815	N	0.035363	T	0.20495	0.0493	N	0.22421	0.69	0.31423	N	0.674115	B;P	0.36222	0.129;0.544	B;B	0.27170	0.045;0.077	T	0.24764	-1.0151	10	0.72032	D	0.01	-3.4059	14.4588	0.67435	0.0:0.853:0.147:0.0	.	650;650	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	650	ENSP00000356634:A650V;ENSP00000356633:A650V	ENSP00000356633:A650V	A	+	2	0	PAPPA2	174831312	0.619000	0.27059	0.741000	0.31004	0.400000	0.30750	5.874000	0.69652	2.542000	0.85734	0.650000	0.86243	GCT	-	NULL		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	C		-		176564689	1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	SNP	0.998	T	T	176564689	C	T	176564689	3	4	239	1	0	0	0	0	1	0	0	0	11435	797	28	2	1955	2	PAPPA2	1	176564689	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09	9468081	176564689	72685932	2	19368											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200821711	200821711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatggcaatgaaacgggcaGctttgttggagaaaagatta	12	4	0	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr1:200821711G>T	ENST00000236925.4	+	13	3590	c.3541G>T	c.(3541-3543)Gct>Tct	p.A1181S	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.A1170S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A1154S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1181					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAAACGGGCAGCTTTGTTGGA	0.368																																																	0								ENSG00000118200						101	97	98					1																	200821711		2203	4300	6503	CAMSAP2	SO:0001583	missense	0			-	HGNC	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3541G>T	1.37:g.200821711G>T	ENSP00000236925:p.Ala1181Ser	Somatic	0	37	0		0.544305392392877	114	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP							pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.A1181S	ENST00000236925.4	37	c.3541		1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656352	0.88056	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.17528	2.29;2.27;2.28	5.53	5.53	0.82687	.	0.047858	0.85682	D	0.000000	T	0.32346	0.0826	L	0.48174	1.505	0.80722	D	1	P;D;D	0.59357	0.929;0.974;0.985	P;P;P	0.57846	0.666;0.677;0.828	T	0.00465	-1.1723	10	0.33940	T	0.23	-22.9316	19.4697	0.94958	0.0:0.0:1.0:0.0	.	1154;1181;1170	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	1170;1154;1181	ENSP00000351684:A1170S;ENSP00000416800:A1154S;ENSP00000236925:A1181S	ENSP00000236925:A1181S	A	+	1	0	CAMSAP1L1	199088334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.340000	0.79292	2.579000	0.87056	0.650000	0.86243	GCT	-	NULL		0.368	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	protein_coding	OTTHUMT00000086956.2	G	NM_203459	-		200821711	1	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	SNP	1.000	T	T	200821711	G	T	200821711	3	4	239	1	0	0	0	0	1	0	0	0	2614	971	34	3	3554	3	CAMSAP1L1	1	200821711	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	24257022	200821711	48428910	3	19369											
PM20D1	148811	genome.wustl.edu	37	chr1	205819093	205819093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgagaagggattcgcgaCgccctttgatgctccccgct	11	13	0	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr1:205819093C>T	ENST00000367136.4	-	1	152	c.108G>A	c.(106-108)gcG>gcA	p.A36A	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	36					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGATTCGCGACGCCCTTTGAT	0.592																																																	0								ENSG00000162877						89	91	90					1																	205819093		2203	4300	6503	PM20D1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.108G>A	1.37:g.205819093C>T		Somatic	0	63	0		0.544305392392877	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q6P4E3|Q96DM4	Silent	SNP							pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.A36	ENST00000367136.4	37	c.108	CCDS1460.1	1																																																																																			-	NULL		0.592	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	protein_coding	OTTHUMT00000087736.1	C	NM_152491	-		205819093	-1	no_errors	ENST00000367136	ensembl	human	known	74_37	silent	SNP	0.000	T	T	205819093	C	T	205819093	2	4	239	1	0	0	0	0	0	0	0	1	12130	523	19	1		1	PM20D1	1	205819093	Silent	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09	4997382	205819093	43431528	4	19370											
EML4	27436	genome.wustl.edu	37	chr2	42530460	42530460	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcattttcagggtcaTacagatgagctttggggtct	11	7	5	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr2:42530460T>C	ENST00000318522.5	+	16	2035	c.1773T>C	c.(1771-1773)caT>caC	p.H591H	EML4_ENST00000402711.2_Silent_p.H533H|EML4_ENST00000401738.3_Silent_p.H602H|EML4_ENST00000453191.2_5'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	591					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTCAGGGTCATACAGATGAGC	0.403			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0								ENSG00000143924						165	161	162					2																	42530460		2203	4300	6503	EML4	SO:0001819	synonymous_variant	0			-	HGNC	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1773T>C	2.37:g.42530460T>C		Somatic	0	40	0		0.544305392392877	152	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP							pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H591	ENST00000318522.5	37	c.1773	CCDS1807.1	2																																																																																			-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	protein_coding	OTTHUMT00000250463.3	T	NM_019063	-		42530460	1	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	SNP	0.997	C	C	42530460	T	C	42530460	2	2	239	1	0	0	0	0	0	0	0	1	5101	1403	49	5		5	EML4	2	42530460	Silent	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09		42530460	200668913	5	19371											
XPO1	7514	genome.wustl.edu	37	chr2	61726050	61726051	+	Splice_Site	INS	-	-	A													gagaattcattgcacatgctINSaaaaaaaaaaacacacaaaa					rs372688892		TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr2:61726050_61726051insA	ENST00000401558.2	-	8	1318		c.e8-2		XPO1_ENST00000404992.2_Splice_Site|XPO1_ENST00000406957.1_Splice_Site	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1						gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGCACATGCTAAAAAAAAAAA	0.262			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0								ENSG00000082898																																			XPO1	SO:0001630	splice_region_variant	0				HGNC	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.591-2->T	2.37:g.61726061_61726061dupA		Somatic	0	35	0		0.544305392392877	6	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Splice_Site	INS							-	e7-2	ENST00000401558.2	37	c.591-3_591-2	CCDS33205.1	2																																																																																			-	-		0.262	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	protein_coding	OTTHUMT00000325872.3	-	NM_003400		Intron	61726051	-1	no_errors	ENST00000401558	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.996	A	A	61726051	-	A	61726050	8	5	239	1	0	1	1	0	0	0	1	0	17452	1536	53	0	2698	0	XPO1	2	61726050	Splice_Site	INS	-	TCGA-X6-A8C7-01A-11D-A36J-09	19195590	61726050	181473323	6	19372											
ATG16L1	55054	genome.wustl.edu	37	chr2	234173536	234173536	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgatgtcatgcttccAgaattgcagaatgtttgcag	9	9	2	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr2:234173536A>G	ENST00000392017.4	+	5	646		c.e5-1		ATG16L1_ENST00000392018.1_Splice_Site|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392020.4_Splice_Site|ATG16L1_ENST00000347464.5_Intron	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)						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)		TCATGCTTCCAGAATTGCAGA	0.512																																																	0								ENSG00000085978						95	84	87					2																	234173536		2203	4300	6503	ATG16L1	SO:0001630	splice_region_variant	0			-	HGNC	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.390-1A>G	2.37:g.234173536A>G		Somatic	0	54	0		0.544305392392877	1	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Splice_Site	SNP							-	e5-2	ENST00000392017.4	37	c.390-2	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214960	0.58452	.	.	ENSG00000085978	ENST00000431917;ENST00000392017;ENST00000392020;ENST00000392018	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3245	0.82970	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG16L1	233838275	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.993000	0.88291	2.254000	0.74563	0.460000	0.39030	.	-	-		0.512	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	protein_coding	OTTHUMT00000257069.2	A	NM_017974	-	Intron	234173536	1	no_errors	ENST00000392017	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	234173536	A	G	234173536	5	3	239	1	0	0	0	0	0	0	1	0	1091	202	7	5	406	5	ATG16L1	2	234173536	Splice_Site	SNP	A	TCGA-X6-A8C7-01A-11D-A36J-09	172447486	234173536	9025837	7	19373											
STAB1	23166	genome.wustl.edu	37	chr3	52540712	52540712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctctgccgcaggggcGcatcctgctgggacccgagg	17	13	1	0	rs201076394	byFrequency	TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr3:52540712G>T	ENST00000321725.6	+	18	1911	c.1835G>T	c.(1834-1836)cGc>cTc	p.R612L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	612	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.R612L(1)|p.R612H(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGCAGGGGCGCATCCTGCTG	0.692																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)						ENSG00000010327						22	25	24					3																	52540712		2197	4296	6493	STAB1	SO:0001583	missense	0			-	HGNC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1835G>T	3.37:g.52540712G>T	ENSP00000312946:p.Arg612Leu	Somatic	0	30	0		0.544305392392877	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP							pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R612L	ENST00000321725.6	37	c.1835	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147965	0.78001	.	.	ENSG00000010327	ENST00000321725	D	0.91068	-2.78	4.81	4.81	0.61882	FAS1 domain (5);	0.160917	0.41001	D	0.000976	D	0.92407	0.7590	L	0.38175	1.15	0.45427	D	0.998408	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.92672	0.6151	10	0.51188	T	0.08	.	14.8072	0.69965	0.0:0.0:1.0:0.0	.	612;612	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	L	612	ENSP00000312946:R612L	ENSP00000312946:R612L	R	+	2	0	STAB1	52515752	0.986000	0.35501	1.000000	0.80357	0.835000	0.47333	3.123000	0.50453	2.215000	0.71742	0.462000	0.41574	CGC	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.692	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	G	NM_015136	-		52540712	1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52540712	G	T	52540712	3	4	239	1	0	0	0	0	1	0	0	0	15244	1087	38	3	1905	3	STAB1	3	52540712	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		52540712	145481718	8	19374											
C5orf44	80006	genome.wustl.edu	37	chr5	64954317	64954317	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaattaaattcagtcagccaAgctggagaatggtaaatatt	9	5	2	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr5:64954317A>T	ENST00000399438.3	+	9	1032	c.687A>T	c.(685-687)caA>caT	p.Q229H	TRAPPC13_ENST00000505553.1_Missense_Mutation_p.Q223H|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.Q229H|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.Q223H|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.Q230H	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	229																	CAGTCAGCCAAGCTGGAGAAT	0.333																																																	0								ENSG00000113597						52	46	48					5																	64954317		1801	4067	5868	TRAPPC13	SO:0001583	missense	0			-	HGNC		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.687A>T	5.37:g.64954317A>T	ENSP00000382367:p.Gln229His	Somatic	0	40	0		0.544305392392877	97	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP							pfam_DUF974	p.Q230H	ENST00000399438.3	37	c.690	CCDS47222.1	5	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153119	0.38021	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.52	1.44	0.22558	.	0.414518	0.26711	N	0.022883	T	0.19604	0.0471	N	0.08118	0	0.28704	N	0.903904	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	0.10800	-1.0614	9	0.48119	T	0.1	-0.1798	6.4855	0.22087	0.6384:0.2254:0.1362:0.0	.	223;223;229;229	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	H	229;229;223;223;230	.	ENSP00000231526:Q223H	Q	+	3	2	C5orf44	64990073	0.039000	0.19947	1.000000	0.80357	0.962000	0.63368	0.362000	0.20284	0.440000	0.26502	0.528000	0.53228	CAA	-	pfam_DUF974		0.333	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRAPPC13	protein_coding	OTTHUMT00000370113.1	A	NM_024941	-		64954317	1	no_errors	ENST00000545191	ensembl	human	known	74_37	missense	SNP	0.991	T	T	64954317	A	T	64954317	3	4	239	1	0	0	0	0	1	0	0	0	2305	69	3	5	721	5	C5orf44	5	64954317	Missense_Mutation	SNP	A	TCGA-X6-A8C7-01A-11D-A36J-09		64954317	115960943	9	19375											
YTHDC2	64848	genome.wustl.edu	37	chr5	112868613	112868613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgattgctttaaaaatgGtatcccctgccgtatatttt	7	7	0	2	rs148801229		TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr5:112868613G>T	ENST00000161863.4	+	5	926	c.713G>T	c.(712-714)gGt>gTt	p.G238V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G238V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	238	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTTAAAAATGGTATCCCCTGC	0.383																																																	0								ENSG00000047188						108	115	113					5																	112868613		2202	4300	6502	YTHDC2	SO:0001583	missense	0			-	HGNC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.713G>T	5.37:g.112868613G>T	ENSP00000161863:p.Gly238Val	Somatic	0	56	0		0.544305392392877	28	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B2RP66	Missense_Mutation	SNP							pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G238V	ENST00000161863.4	37	c.713	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581102	0.46006	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.39229	1.09;1.09	5.63	4.75	0.60458	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.583756	0.18332	N	0.144444	T	0.67420	0.2891	M	0.91090	3.175	0.80722	D	1	D	0.64830	0.994	P	0.61658	0.892	T	0.73701	-0.3900	10	0.72032	D	0.01	.	12.2683	0.54691	0.078:0.0:0.922:0.0	.	238	Q9H6S0	YTDC2_HUMAN	V	238;238;148	ENSP00000161863:G238V;ENSP00000423101:G238V	ENSP00000161863:G238V	G	+	2	0	YTHDC2	112896512	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.133000	0.50531	2.656000	0.90262	0.460000	0.39030	GGT	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.383	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	protein_coding	OTTHUMT00000250776.2	G	NM_022828	-		112868613	1	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	SNP	0.916	T	T	112868613	G	T	112868613	3	4	239	1	0	0	0	0	1	0	0	0	17504	1261	44	3	731	3	YTHDC2	5	112868613	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	47914296	112868613	68046647	10	19376											
ZNF608	57507	genome.wustl.edu	37	chr5	123983157	123983157	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcccttttacaacacTgtccttactagaaataatat	4	9	0	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr5:123983157T>A	ENST00000306315.5	-	4	3355	c.2920A>T	c.(2920-2922)Agt>Tgt	p.S974C	ZNF608_ENST00000504926.1_Missense_Mutation_p.S547C	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	974	Ser-rich.						metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTACAACACTGTCCTTACTA	0.433																																																	0								ENSG00000168916						178	178	178					5																	123983157		2203	4300	6503	ZNF608	SO:0001583	missense	0			-	HGNC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2920A>T	5.37:g.123983157T>A	ENSP00000307746:p.Ser974Cys	Somatic	0	47	0		0.544305392392877	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP							NULL	p.S974C	ENST00000306315.5	37	c.2920	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	T	2.474	-0.321168	0.05386	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.46819	0.86;0.86	5.9	1.46	0.22682	.	0.382752	0.32120	N	0.006550	T	0.42268	0.1195	L	0.44542	1.39	0.09310	N	1	P	0.35481	0.504	B	0.42386	0.386	T	0.35151	-0.9800	10	0.56958	D	0.05	-7.0372	8.381	0.32472	0.0:0.4617:0.0:0.5383	.	974	Q9ULD9	ZN608_HUMAN	C	547;974	ENSP00000427657:S547C;ENSP00000307746:S974C	ENSP00000307746:S974C	S	-	1	0	ZNF608	124011056	0.551000	0.26497	0.008000	0.14137	0.054000	0.15201	1.041000	0.30291	0.402000	0.25451	-0.187000	0.12897	AGT	-	NULL		0.433	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	protein_coding	OTTHUMT00000371300.1	T	XM_114432	-		123983157	-1	no_errors	ENST00000306315	ensembl	human	known	74_37	missense	SNP	0.011	A	A	123983157	T	A	123983157	3	1	239	1	0	0	0	0	1	0	0	0	18041	1580	55	5	1642	5	ZNF608	5	123983157	Missense_Mutation	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09	11114544	123983157	56932103	11	19377											
PCDHA8	56140	genome.wustl.edu	37	chr5	140223169	140223169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatactcgcaacaacagCcgcagagggtgtgctctggt	13	11	2	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr5:140223169C>T	ENST00000531613.1	+	1	2263	c.2263C>T	c.(2263-2265)Ccg>Tcg	p.P755S	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P755S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	755					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)			GCAACAACAGCCGCAGAGGGT	0.647																																																	0								ENSG00000204962						57	57	57					5																	140223169		2196	4264	6460	PCDHA8	SO:0001583	missense	0			-	HGNC	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.2263C>T	5.37:g.140223169C>T	ENSP00000434655:p.Pro755Ser	Somatic	0	83	0		0.544305392392877	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B9EGT7|O75281	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P755S	ENST00000531613.1	37	c.2263	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.223689	0.01530	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.10573	2.86;2.86	3.06	-3.83	0.04269	.	0.235211	0.19883	U	0.103940	T	0.01940	0.0061	N	0.00729	-1.24	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.0;0.007	T	0.42032	-0.9475	10	0.07813	T	0.8	.	6.4274	0.21778	0.5404:0.3579:0.0:0.1016	.	755;755	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	S	755	ENSP00000434655:P755S;ENSP00000367363:P755S	ENSP00000367363:P755S	P	+	1	0	PCDHA8	140203353	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-1.418000	0.02462	-0.598000	0.05806	-0.366000	0.07423	CCG	-	NULL		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	C	NM_018911	-		140223169	1	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	SNP	0.001	T	T	140223169	C	T	140223169	3	4	239	1	0	0	0	0	1	0	0	0	11532	739	26	2	2265	2	PCDHA8	5	140223169	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09	16240012	140223169	40692091	12	19378											
RNF14	9604	genome.wustl.edu	37	chr5	141353195	141353195	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggaggatgaattgctGgccctggcaagtatttacga	13	8	1	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr5:141353195G>T	ENST00000394520.2	+	3	351	c.42G>T	c.(40-42)ctG>ctT	p.L14L	RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000356143.1_Silent_p.L14L|RNF14_ENST00000394519.1_Silent_p.L14L|RNF14_ENST00000347642.3_Silent_p.L14L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Silent_p.L14L|RNF14_ENST00000540015.1_Silent_p.L14L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	14	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGAATTGCTGGCCCTGGCAA	0.433																																																	0								ENSG00000013561						96	98	97					5																	141353195		2203	4300	6503	RNF14	SO:0001819	synonymous_variant	0			-	HGNC	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.42G>T	5.37:g.141353195G>T		Somatic	0	58	0		0.544305392392877	130	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP							pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.L14	ENST00000394520.2	37	c.42	CCDS4270.1	5																																																																																			-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain		0.433	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	protein_coding	OTTHUMT00000251860.2	G	NM_004290	-		141353195	1	no_errors	ENST00000347642	ensembl	human	known	74_37	silent	SNP	1.000	T	T	141353195	G	T	141353195	2	4	239	1	0	0	0	0	0	0	0	1	13451	1335	47	3		3	RNF14	5	141353195	Silent	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	1130026	141353195	39562065	13	19379											
DBN1	1627	genome.wustl.edu	37	chr5	176885489	176885490	+	Frame_Shift_Ins	INS	-	-	C													agtttcaatggtgtcagctgINScatcgtggatctccgtggcg							TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr5:176885489_176885490insC	ENST00000309007.5	-	12	1564_1565	c.1345_1346insG	c.(1345-1347)gcafs	p.A449fs	DBN1_ENST00000292385.5_Frame_Shift_Ins_p.A451fs|DBN1_ENST00000512501.1_Frame_Shift_Ins_p.A181fs|DBN1_ENST00000393563.4_Frame_Shift_Ins_p.A181fs|DBN1_ENST00000393565.1_Frame_Shift_Ins_p.A495fs	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	449					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			GGTGTCAGCTGCATCGTGGATC	0.604																																																	0								ENSG00000113758																																			DBN1	SO:0001589	frameshift_variant	0				HGNC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1346dupG	5.37:g.176885490_176885490dupC	ENSP00000308532:p.Ala449fs	Somatic	0	68	0		0.544305392392877	299	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A8MV58|B2RBG0|Q9UFZ5	Frame_Shift_Ins	INS							pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.A451fs	ENST00000309007.5	37	c.1352_1351	CCDS4420.1	5																																																																																			-	NULL		0.604	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	protein_coding	OTTHUMT00000253429.2	-	NM_080881			176885490	-1	no_errors	ENST00000292385	ensembl	human	known	74_37	frame_shift_ins	INS	0.212:0.018	C	C	176885490	-	C	176885489	7	5	239	1	0	1	1	0	0	0	0	0	4254	1319	46	0	615	0	DBN1	5	176885489	Frame_Shift_Ins	INS	-	TCGA-X6-A8C7-01A-11D-A36J-09	35532294	176885489	4029771	14	19380											
TRDN	10345	genome.wustl.edu	37	chr6	123869712	123869712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcctccatagcatcaCgtaccagttttaaaggatct	7	10	2	0			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr6:123869712C>T	ENST00000398178.3	-	3	299	c.278G>A	c.(277-279)cGt>cAt	p.R93H	TRDN_ENST00000542443.1_Missense_Mutation_p.R93H|TRDN_ENST00000334268.4_Missense_Mutation_p.R93H|TRDN_ENST00000546248.1_Missense_Mutation_p.R93H	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	93					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CATAGCATCACGTACCAGTTT	0.348																																																	0								ENSG00000186439						51	50	51					6																	123869712		1838	4088	5926	TRDN	SO:0001583	missense	0			-	HGNC	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.278G>A	6.37:g.123869712C>T	ENSP00000381240:p.Arg93His	Somatic	0	51	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP							pfam_Asp-B-hydro/Triadin_dom	p.R93H	ENST00000398178.3	37	c.278	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	3.283	-0.146547	0.06627	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.62105	1.28;1.28;1.21;0.05	5.29	4.12	0.48240	Aspartyl beta-hydroxylase/Triadin domain (1);	0.526840	0.20624	N	0.088713	T	0.05090	0.0136	N	0.00082	-2.215	0.21220	N	0.999756	B;B;B;B;B	0.17667	0.0;0.023;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.42965	-0.9420	10	0.02654	T	1	-3.3496	9.6367	0.39811	0.0:0.0799:0.0:0.9201	.	93;93;93;93;93	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	H	93	ENSP00000381240:R93H;ENSP00000333984:R93H;ENSP00000439281:R93H;ENSP00000437684:R93H	ENSP00000333984:R93H	R	-	2	0	TRDN	123911411	1.000000	0.71417	0.947000	0.38551	0.729000	0.41735	3.264000	0.51553	0.845000	0.35118	-0.238000	0.12139	CGT	-	pfam_Asp-B-hydro/Triadin_dom		0.348	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	protein_coding		C		-		123869712	-1	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	SNP	0.983	T	T	123869712	C	T	123869712	3	4	239	1	0	0	0	0	1	0	0	0	16475	536	19	1	2067	1	TRDN	6	123869712	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09		123869712	47245355	15	19381											
RNF216	54476	genome.wustl.edu	37	chr7	5765071	5765071	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatggcatcagacaaggccTaaaaattgagaaaaggaaag	10	5	1	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr7:5765071T>A	ENST00000425013.2	-	8	1443		c.e8-2		RNF216_ENST00000389902.3_Splice_Site	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGACAAGGCCTAAAAATTGAG	0.373																																																	0								ENSG00000011275						91	83	85					7																	5765071		2203	4300	6503	RNF216	SO:0001630	splice_region_variant	0			-	HGNC	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1219-2A>T	7.37:g.5765071T>A		Somatic	0	63	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Splice_Site	SNP							-	e7-2	ENST00000425013.2	37	c.1390-2	CCDS34595.1	7	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212326	0.79240	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0138	0.71567	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF216	5731597	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.776000	0.75023	2.146000	0.66826	0.482000	0.46254	.	-	-		0.373	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	protein_coding	OTTHUMT00000340374.1	T	NM_207111	-	Intron	5765071	-1	no_errors	ENST00000389902	ensembl	human	known	74_37	splice_site	SNP	1.000	A	A	5765071	T	A	5765071	5	1	239	1	0	0	0	0	0	0	1	0	13488	1536	53	5	1423	5	RNF216	7	5765071	Splice_Site	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09		5765071	153373592	16	19382											
GPR141	353345	genome.wustl.edu	37	chr7	37780183	37780183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacttggtggtggtccacaGcgtttttctgctgacagtgc	12	9	1	1	rs372117075		TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr7:37780183G>T	ENST00000447769.1	+	4	477	c.188G>T	c.(187-189)aGc>aTc	p.S63I	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.S63I|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGGTCCACAGCGTTTTTCTG	0.517																																																	0								ENSG00000187037						99	93	95					7																	37780183		2203	4300	6503	GPR141	SO:0001583	missense	0			-	HGNC	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.188G>T	7.37:g.37780183G>T	ENSP00000390410:p.Ser63Ile	Somatic	0	31	0		0.544305392392877	2	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S63I	ENST00000447769.1	37	c.188	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292236	0.23564	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.32023	1.47;1.47;1.47	5.27	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.257927	0.41097	D	0.000949	T	0.29028	0.0721	L	0.46157	1.445	0.80722	D	1	P	0.40681	0.727	B	0.39503	0.301	T	0.03193	-1.1062	10	0.25106	T	0.35	-3.7436	15.3383	0.74277	0.0:0.1403:0.8597:0.0	.	63	Q7Z602	GP141_HUMAN	I	63	ENSP00000396300:S63I;ENSP00000390410:S63I;ENSP00000334540:S63I	ENSP00000334540:S63I	S	+	2	0	GPR141	37746708	1.000000	0.71417	0.119000	0.21687	0.964000	0.63967	5.791000	0.69045	1.334000	0.45468	0.650000	0.86243	AGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	protein_coding	OTTHUMT00000219943.2	G	NM_181791	-		37780183	1	no_errors	ENST00000334425	ensembl	human	known	74_37	missense	SNP	0.946	T	T	37780183	G	T	37780183	3	4	239	1	0	0	0	0	1	0	0	0	6651	971	34	3	190	3	GPR141	7	37780183	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	32015112	37780183	121358480	17	19383											
CYLC2	1539	genome.wustl.edu	37	chr9	105767704	105767704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatgccaagaaagatgCaaaggagattaaaaaaggta	12	3	0	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr9:105767704C>T	ENST00000374798.3	+	5	861	c.791C>T	c.(790-792)gCa>gTa	p.A264V	CYLC2_ENST00000487798.1_Missense_Mutation_p.A264V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	264	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAAAGATGCAAAGGAGATT	0.393																																																	0								ENSG00000155833						116	111	112					9																	105767704		2203	4300	6503	CYLC2	SO:0001583	missense	0			-	HGNC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.791C>T	9.37:g.105767704C>T	ENSP00000420256:p.Ala264Val	Somatic	0	48	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R8F4|Q5VVJ9	Missense_Mutation	SNP							NULL	p.A264V	ENST00000374798.3	37	c.791	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225864	0.22542	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14144	2.53;2.53	3.68	-1.75	0.08031	.	3.279410	0.00991	N	0.003520	T	0.09158	0.0226	L	0.27053	0.805	0.09310	N	1	B	0.25312	0.123	B	0.22152	0.038	T	0.24905	-1.0147	10	0.48119	T	0.1	0.8836	0.7431	0.00977	0.3163:0.3342:0.1547:0.1948	.	264	Q14093	CYLC2_HUMAN	V	264	ENSP00000420256:A264V;ENSP00000417674:A264V	ENSP00000420256:A264V	A	+	2	0	CYLC2	104807525	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.419000	0.02460	-0.356000	0.08187	-0.291000	0.09656	GCA	-	NULL		0.393	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	C	NM_001340	-		105767704	1	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	SNP	0.000	T	T	105767704	C	T	105767704	3	4	239	1	0	0	0	0	1	0	0	0	4144	710	25	2	809	2	CYLC2	9	105767704	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09		105767704	35445727	18	19384											
TTLL11	158135	genome.wustl.edu	37	chr9	124801570	124801570	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaacttgttcacttgAccggagaatatgtcattgtc	9	9	2	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr9:124801570A>T	ENST00000373776.3	-	2	997	c.810T>A	c.(808-810)ggT>ggA	p.G270G	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Silent_p.G270G	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	270	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGTTCACTTGACCGGAGAATA	0.413																																																	0								ENSG00000175764						105	96	99					9																	124801570		2203	4300	6503	TTLL11	SO:0001819	synonymous_variant	0			-	HGNC	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.810T>A	9.37:g.124801570A>T		Somatic	0	97	0		0.544305392392877	14	6.67	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	62	11.43		Silent	SNP							pfam_TTL/TTLL_fam	p.G270	ENST00000373776.3	37	c.810	CCDS6834.2	9																																																																																			-	pfam_TTL/TTLL_fam		0.413	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	protein_coding	OTTHUMT00000053907.1	A	XM_088486	-		124801570	-1	no_errors	ENST00000321582	ensembl	human	known	74_37	silent	SNP	1.000	T	T	124801570	A	T	124801570	2	4	239	1	0	0	0	0	0	0	0	1	16731	262	10	5		5	TTLL11	9	124801570	Silent	SNP	A	TCGA-X6-A8C7-01A-11D-A36J-09	19033866	124801570	16411861	19	19385											
EXOC6	54536	genome.wustl.edu	37	chr10	94773974	94773974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagctctgagcctgtgCcaggattccagggggatacc	13	12	1	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr10:94773974C>T	ENST00000260762.6	+	20	2133	c.2119C>T	c.(2119-2121)Cca>Tca	p.P707S	EXOC6_ENST00000443748.2_Missense_Mutation_p.P604S|EXOC6_ENST00000371552.4_Missense_Mutation_p.P702S|EXOC6_ENST00000371547.4_Missense_Mutation_p.P723S	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	707					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TGAGCCTGTGCCAGGATTCCA	0.363																																																	0								ENSG00000138190						84	85	85					10																	94773974		2203	4300	6503	EXOC6	SO:0001583	missense	0			-	HGNC	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2119C>T	10.37:g.94773974C>T	ENSP00000260762:p.Pro707Ser	Somatic	0	47	0		0.544305392392877	24	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP							pfam_Sec15,pirsf_Sec15	p.P723S	ENST00000260762.6	37	c.2167	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035868	0.75617	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.51	4.59	0.56863	.	0.117723	0.64402	D	0.000015	T	0.53417	0.1795	M	0.78801	2.425	0.80722	D	1	P;D;P;P;P;P	0.55172	0.83;0.97;0.633;0.633;0.763;0.902	P;P;P;P;P;P	0.60068	0.573;0.868;0.507;0.61;0.507;0.643	T	0.58741	-0.7583	10	0.52906	T	0.07	-9.4594	15.6428	0.77020	0.1386:0.8614:0.0:0.0	.	723;604;699;660;707;702	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	S	723;702;604;707;56	ENSP00000360602:P723S;ENSP00000360607:P702S;ENSP00000396206:P604S;ENSP00000260762:P707S;ENSP00000398982:P56S	ENSP00000260762:P707S	P	+	1	0	EXOC6	94763954	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.238000	0.78173	1.295000	0.44724	-0.321000	0.08615	CCA	-	pfam_Sec15,pirsf_Sec15		0.363	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	protein_coding	OTTHUMT00000049410.2	C	NM_019053	-		94773974	1	no_errors	ENST00000371547	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94773974	C	T	94773974	3	4	239	1	0	0	0	0	1	0	0	0	5310	739	26	2	2287	2	EXOC6	10	94773974	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09		94773974	40760773	20	19386											
MKI67	4288	genome.wustl.edu	37	chr10	129906760	129906760	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcagtcattgattcctcaGagggacctggtgtctggaag	12	9	4	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr10:129906760G>T	ENST00000368654.3	-	13	3719	c.3344C>A	c.(3343-3345)tCt>tAt	p.S1115Y	MKI67_ENST00000368653.3_Missense_Mutation_p.S755Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1115	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATTCCTCAGAGGGACCTGG	0.488																																																	0								ENSG00000148773						226	225	225					10																	129906760		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3344C>A	10.37:g.129906760G>T	ENSP00000357643:p.Ser1115Tyr	Somatic	0	45	0		0.544305392392877	10	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q5VWH2	Missense_Mutation	SNP							pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S1115Y	ENST00000368654.3	37	c.3344	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784080	0.16189	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01323	5.05;5.01	3.71	-3.3	0.05003	.	32.290900	0.00166	N	0.000002	T	0.01353	0.0044	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22541	0.071;0.053;0.003	B;B;B	0.26770	0.055;0.073;0.002	T	0.46456	-0.9190	10	0.62326	D	0.03	.	2.1265	0.03740	0.4942:0.1465:0.2267:0.1326	.	1114;755;1115	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	1115;755;1114	ENSP00000357643:S1115Y;ENSP00000357642:S755Y	ENSP00000357642:S755Y	S	-	2	0	MKI67	129796750	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.930000	0.03752	-0.311000	0.09066	TCT	-	NULL		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	G	NM_002417	-		129906760	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	T	T	129906760	G	T	129906760	3	4	239	1	0	0	0	0	1	0	0	0	9600	942	33	3	6438	3	MKI67	10	129906760	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	35132786	129906760	5627987	21	19387											
SWAP70	23075	genome.wustl.edu	37	chr11	9769442	9769442	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccaagagggctgaactaGaaaagtggcacttggagcag	13	8	0	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr11:9769442G>T	ENST00000318950.6	+	10	1496	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	SWAP70_ENST00000447399.2_Nonsense_Mutation_p.E407*	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	465					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGCTGAACTAGAAAAGTGGCA	0.552																																																	0								ENSG00000133789						98	99	98					11																	9769442		2201	4294	6495	SWAP70	SO:0001587	stop_gained	0			-	HGNC	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1393G>T	11.37:g.9769442G>T	ENSP00000315630:p.Glu465*	Somatic	0	83	0		0.544305392392877	103	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Nonsense_Mutation	SNP							pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology	p.E465*	ENST00000318950.6	37	c.1393	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	G	38	7.114442	0.98074	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-22.9032	19.8834	0.96906	0.0:0.0:1.0:0.0	.	.	.	.	X	407;465	.	ENSP00000315630:E465X	E	+	1	0	SWAP70	9726018	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.352000	0.97076	2.694000	0.91930	0.655000	0.94253	GAA	-	NULL		0.552	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	protein_coding	OTTHUMT00000386766.2	G	NM_015055	-		9769442	1	no_errors	ENST00000318950	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	9769442	G	T	9769442	4	4	239	1	0	0	0	0	0	1	0	0	15432	943	33	3	1431	3	SWAP70	11	9769442	Nonsense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		9769442	125237074	22	19388											
PAMR1	25891	genome.wustl.edu	37	chr11	35454442	35454442	+	Splice_Site	DEL	T	T	-													gcagaatgatagcagaaatcTacaaatgcaaggaatgggca							TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr11:35454442delT	ENST00000378880.2	-	11	2072		c.e11-2		PAMR1_ENST00000378878.3_Splice_Site|PAMR1_ENST00000532848.1_Splice_Site|PAMR1_ENST00000278360.3_Splice_Site	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGCAGAAATCTACAAATGCAA	0.483																																																	0								ENSG00000149090						41	42	42					11																	35454442		2202	4298	6500	PAMR1	SO:0001630	splice_region_variant	0				HGNC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1627-2A>-	11.37:g.35454442delT		Somatic	0	51	0		0.544305392392877	5	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Splice_Site	DEL							-	e12-2	ENST00000378880.2	37	c.1678-2	CCDS31460.1	11																																																																																			-	-		0.483	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	protein_coding	OTTHUMT00000389177.1	T	NM_015430		Intron	35454442	-1	no_errors	ENST00000278360	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-	-	35454442	T	-	35454442	8	5	239	1	0	1	0	1	0	0	1	0	11415	1536	53	0	541	0	PAMR1	11	35454442	Splice_Site	DEL	T	TCGA-X6-A8C7-01A-11D-A36J-09	25685000	35454442	99552074	23	19389											
FADS1	3992	genome.wustl.edu	37	chr11	61571200	61571200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagtggcacataagtgaGgaagaagcggacgtagaagg	15	5	0	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr11:61571200G>A	ENST00000350997.7	-	8	1325	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	FADS1_ENST00000460649.1_Missense_Mutation_p.L10F|FADS1_ENST00000542506.1_Missense_Mutation_p.L224F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Missense_Mutation_p.L224F|FADS1_ENST00000536991.1_Missense_Mutation_p.L56F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	308					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACATAAGTGAGGAAGAAGCGG	0.498																																																	0								ENSG00000149485						92	92	92					11																	61571200		1963	4145	6108	FADS1	SO:0001583	missense	0			-	HGNC		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1093C>T	11.37:g.61571200G>A	ENSP00000322229:p.Leu365Phe	Somatic	0	46	0		0.544305392392877	49	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.00	A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP							pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.L365F	ENST00000350997.7	37	c.1093	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	G	3.776	-0.046613	0.07407	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506;ENST00000539999	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.65	1.09	0.20402	Fatty acid desaturase, type 1 (1);	1.605890	0.04366	U	0.358316	T	0.70850	0.3271	L	0.46885	1.475	0.37078	D	0.89884	B	0.06786	0.001	B	0.14578	0.011	T	0.58601	-0.7608	10	0.34782	T	0.22	-11.2382	6.2725	0.20963	0.2174:0.0:0.6387:0.1439	.	308	O60427	FADS1_HUMAN	F	241;365;224;56;224;10;224;94	ENSP00000322229:L365F;ENSP00000439097:L56F;ENSP00000405087:L224F;ENSP00000445253:L10F;ENSP00000441403:L224F;ENSP00000443587:L94F	ENSP00000322229:L365F	L	-	1	0	FADS1	61327776	0.934000	0.31675	0.816000	0.32577	0.050000	0.14768	1.475000	0.35409	0.483000	0.27608	0.650000	0.86243	CTC	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase		0.498	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	protein_coding	OTTHUMT00000347648.2	G	NM_013402	-		61571200	-1	no_errors	ENST00000350997	ensembl	human	known	74_37	missense	SNP	0.631	A	A	61571200	G	A	61571200	3	1	239	1	0	0	0	0	1	0	0	0	5367	1000	35	2	432	2	FADS1	11	61571200	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	26116758	61571200	73435316	24	19390											
PC	5091	genome.wustl.edu	37	chr11	66617484	66617484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactccaccacggagcggGgaaaggacagctcttccgcc	13	14	1	0			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr11:66617484G>T	ENST00000393958.2	-	19	2915	c.2822C>A	c.(2821-2823)cCc>cAc	p.P941H	PC_ENST00000393955.2_Missense_Mutation_p.P941H|PC_ENST00000529047.1_Missense_Mutation_p.P61H|PC_ENST00000393960.1_Missense_Mutation_p.P941H|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	941					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)	CACGGAGCGGGGAAAGGACAG	0.627																																																	0								ENSG00000173599						64	62	63					11																	66617484		2200	4295	6495	PC	SO:0001583	missense	0			-	HGNC	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.2822C>A	11.37:g.66617484G>T	ENSP00000377530:p.Pro941His	Somatic	0	74	0		0.544305392392877	47	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B4DN00|Q16705	Missense_Mutation	SNP							pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.P941H	ENST00000393958.2	37	c.2822	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773958	0.49786	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.96885	-2.27;-4.16;-4.16;-4.16	5.19	5.19	0.71726	Carboxylase, conserved domain (1);	0.108642	0.64402	D	0.000005	D	0.98988	0.9655	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99041	1.0824	10	0.87932	D	0	-35.4721	16.2578	0.82526	0.0:0.0:1.0:0.0	.	941	P11498	PYC_HUMAN	H	61;941;941;941	ENSP00000435905:P61H;ENSP00000377527:P941H;ENSP00000377530:P941H;ENSP00000377532:P941H	ENSP00000377527:P941H	P	-	2	0	PC	66374060	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	9.285000	0.95894	2.705000	0.92388	0.462000	0.41574	CCC	-	pfam_Carboxylase_cons_dom,pirsf_Pyruv_COase,tigrfam_Pyruv_COase		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	protein_coding	OTTHUMT00000393115.1	G	NM_001040716	-		66617484	-1	no_errors	ENST00000393958	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66617484	G	T	66617484	3	4	239	1	0	0	0	0	1	0	0	0	11499	1232	43	3	730	3	PC	11	66617484	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	5046284	66617484	68389032	25	19391											
MAML2	84441	genome.wustl.edu	37	chr11	95826234	95826234	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttcaaggtcactcaTgggaggcacagatatgttgg	12	9	3	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr11:95826234T>A	ENST00000524717.1	-	2	2245	c.961A>T	c.(961-963)Atg>Ttg	p.M321L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	321					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGGTCACTCATGGGAGGCACA	0.468			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0								ENSG00000184384						149	141	144					11																	95826234		2048	4205	6253	MAML2	SO:0001583	missense	0			-	HGNC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.961A>T	11.37:g.95826234T>A	ENSP00000434552:p.Met321Leu	Somatic	0	48	0		0.544305392392877	36	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP							pfam_Neuroggenic_mastermind-like_N	p.M321L	ENST00000524717.1	37	c.961	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	T	3.670	-0.067767	0.07228	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.38077	1.16;1.16	5.42	2.95	0.34219	.	0.061986	0.64402	N	0.000004	T	0.24314	0.0589	N	0.25647	0.755	0.35502	D	0.799891	B	0.12013	0.005	B	0.09377	0.004	T	0.14811	-1.0459	10	0.25751	T	0.34	-9.7513	11.9432	0.52913	0.0:0.0:0.2759:0.7241	.	321	Q8IZL2	MAML2_HUMAN	L	321	ENSP00000434552:M321L;ENSP00000412394:M321L	ENSP00000412394:M321L	M	-	1	0	MAML2	95465882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.711000	0.54868	0.298000	0.22638	0.374000	0.22700	ATG	-	NULL		0.468	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	T		-		95826234	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	missense	SNP	0.997	A	A	95826234	T	A	95826234	3	1	239	1	0	0	0	0	1	0	0	0	9208	1464	51	5	2525	5	MAML2	11	95826234	Missense_Mutation	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09	29208750	95826234	39180282	26	19392											
C12orf11	55726	genome.wustl.edu	37	chr12	27078722	27078722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaacgatcagatacaaggCtgtcttcaccaactgggtag	10	9	3	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr12:27078722C>T	ENST00000261191.7	-	6	1183	c.647G>A	c.(646-648)aGc>aAc	p.S216N	ASUN_ENST00000539625.1_Missense_Mutation_p.S115N	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	216					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)											AGATACAAGGCTGTCTTCACC	0.318																																																	0								ENSG00000064102						111	109	109					12																	27078722		2203	4300	6503	ASUN	SO:0001583	missense	0			-	HGNC	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.647G>A	12.37:g.27078722C>T	ENSP00000261191:p.Ser216Asn	Somatic	0	46	0		0.544305392392877	50	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP							pfam_Cell_cycle_regulator_Mat89Bb	p.S216N	ENST00000261191.7	37	c.647	CCDS8708.1	12	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253235	0.59212	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.65	5.65	0.86999	.	0.043099	0.85682	D	0.000000	T	0.43322	0.1242	N	0.21448	0.665	0.58432	D	0.999998	P	0.37914	0.611	B	0.41036	0.346	T	0.36456	-0.9747	10	0.51188	T	0.08	-13.4314	20.1002	0.97872	0.0:1.0:0.0:0.0	.	216	Q9NVM9	M89BB_HUMAN	N	216;115;115;216	ENSP00000261191:S216N;ENSP00000443724:S115N;ENSP00000448467:S115N;ENSP00000446183:S216N	ENSP00000261191:S216N	S	-	2	0	C12orf11	26969989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.743000	0.68655	2.833000	0.97629	0.585000	0.79938	AGC	-	pfam_Cell_cycle_regulator_Mat89Bb		0.318	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	protein_coding	OTTHUMT00000402819.1	C	NM_018164	-		27078722	-1	no_errors	ENST00000261191	ensembl	human	known	74_37	missense	SNP	1.000	T	T	27078722	C	T	27078722	3	4	239	1	0	0	0	0	1	0	0	0	1677	797	28	2	1521	2	C12orf11	12	27078722	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09		27078722	106773173	27	19393											
DTX1	1840	genome.wustl.edu	37	chr12	113532615	113532615	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcaccatctgcatggagCgactggtcacagcatcaggc	11	13	3	0			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr12:113532615C>T	ENST00000257600.3	+	6	1752	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	417					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGCATGGAGCGACTGGTCAC	0.667																																																	0								ENSG00000135144						38	35	36					12																	113532615		2203	4300	6503	DTX1	SO:0001587	stop_gained	0			-	HGNC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1249C>T	12.37:g.113532615C>T	ENSP00000257600:p.Arg417*	Somatic	0	33	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O60630|Q9BS04	Nonsense_Mutation	SNP							pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.R417*	ENST00000257600.3	37	c.1249	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.833927	0.98970	.	.	ENSG00000135144	ENST00000257600	.	.	.	4.14	2.28	0.28536	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8401	7.5747	0.27928	0.1637:0.7445:0.0:0.0917	.	.	.	.	X	417	.	ENSP00000257600:R417X	R	+	1	2	DTX1	112016998	1.000000	0.71417	0.976000	0.42696	0.813000	0.45954	1.095000	0.30964	0.225000	0.20959	-0.493000	0.04662	CGA	-	smart_Znf_RING,pfscan_Znf_RING		0.667	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	protein_coding	OTTHUMT00000405045.2	C		-		113532615	1	no_errors	ENST00000257600	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	113532615	C	T	113532615	4	4	239	1	0	0	0	0	0	1	0	0	4795	760	27	1	1271	1	DTX1	12	113532615	Nonsense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09	86453893	113532615	20319280	28	19394											
HERC1	8925	genome.wustl.edu	37	chr15	63928318	63928318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatcagaaccacaggaagTcaccagctgggtcaccacaa	8	15	3	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr15:63928318T>C	ENST00000443617.2	-	65	12343	c.12256A>G	c.(12256-12258)Act>Gct	p.T4086A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4086					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)			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						CCACAGGAAGTCACCAGCTGG	0.493																																																	0								ENSG00000103657						112	111	112					15																	63928318		2022	4178	6200	HERC1	SO:0001583	missense	0			-	HGNC	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.12256A>G	15.37:g.63928318T>C	ENSP00000390158:p.Thr4086Ala	Somatic	0	67	0		0.544305392392877	37	51.95	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	34	52.11	Q8IW65	Missense_Mutation	SNP							pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.T4086A	ENST00000443617.2	37	c.12256	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178435	0.57692	.	.	ENSG00000103657	ENST00000443617	T	0.24538	1.85	5.58	4.44	0.53790	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	N	0.12471	0.22	0.58432	D	0.999994	B	0.26363	0.147	B	0.25405	0.06	T	0.05099	-1.0906	10	0.48119	T	0.1	.	12.1782	0.54198	0.1283:0.0:0.0:0.8717	.	4086	Q15751	HERC1_HUMAN	A	4086	ENSP00000390158:T4086A	ENSP00000390158:T4086A	T	-	1	0	HERC1	61715371	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.997000	0.88414	1.024000	0.39682	-0.333000	0.08304	ACT	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.493	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	T	NM_003922	-		63928318	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63928318	T	C	63928318	3	2	239	1	0	0	0	0	1	0	0	0	7059	1667	58	5	2385	5	HERC1	15	63928318	Missense_Mutation	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09		63928318	38603074	29	19395											
VPS33B	26276	genome.wustl.edu	37	chr15	91548939	91548939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacggagactcagcaggcGgtgctcctgtttcaggccct	12	14	2	1	rs140237411	byFrequency	TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr15:91548939G>A	ENST00000333371.3	-	13	1368	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	VPS33B_ENST00000535843.1_Missense_Mutation_p.R248C|VPS33B_ENST00000535906.1_Missense_Mutation_p.R312C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	339					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.R339S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTCAGCAGGCGGTGCTCCTGT	0.562																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000184056						94	86	89					15																	91548939		2198	4298	6496	VPS33B	SO:0001583	missense	0			-	HGNC	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1015C>T	15.37:g.91548939G>A	ENSP00000327650:p.Arg339Cys	Somatic	0	42	0		0.544305392392877	62	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP							pfam_Sec1-like,superfamily_Sec1-like	p.R339C	ENST00000333371.3	37	c.1015	CCDS10369.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.144741	0.94603	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.81078	-1.45;-1.45;-1.45	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.88995	0.3417	10	0.66056	D	0.02	-26.4873	19.2223	0.93803	0.0:0.0:1.0:0.0	.	312;339	F5H008;Q9H267	.;VP33B_HUMAN	C	339;312;248;294	ENSP00000327650:R339C;ENSP00000444053:R312C;ENSP00000446267:R248C	ENSP00000327650:R339C	R	-	1	0	VPS33B	89349943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.654000	0.91092	2.873000	0.98535	0.563000	0.77884	CGC	-	pfam_Sec1-like,superfamily_Sec1-like		0.562	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	protein_coding	OTTHUMT00000313496.1	G	NM_018668	-		91548939	-1	no_errors	ENST00000333371	ensembl	human	known	74_37	missense	SNP	1.000	A	A	91548939	G	A	91548939	3	1	239	1	0	0	0	0	1	0	0	0	17209	1116	39	1	882	1	VPS33B	15	91548939	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	27620621	91548939	10982453	30	19396											
LRRK1	79705	genome.wustl.edu	37	chr15	101555577	101555577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattgcctttttcaccaccAgaggtcgccagcgctccggg	11	14	1	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr15:101555577A>G	ENST00000388948.3	+	12	1938	c.1579A>G	c.(1579-1581)Aga>Gga	p.R527G	LRRK1_ENST00000284395.5_Missense_Mutation_p.R524G	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTCACCACCAGAGGTCGCCA	0.532											OREG0011796|OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																																					0								ENSG00000154237						54	57	56					15																	101555577		2072	4211	6283	LRRK1	SO:0001583	missense	0			-	HGNC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1579A>G	15.37:g.101555577A>G	ENSP00000373600:p.Arg527Gly	Somatic	0	66	0	1359	0.544305392392877	18	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.R527G	ENST00000388948.3	37	c.1579	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	A	15.58	2.875594	0.51695	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73681	-0.75;-0.77	5.43	4.26	0.50523	.	0.195077	0.45361	D	0.000370	T	0.52565	0.1742	N	0.08118	0	0.39537	D	0.968764	B	0.26672	0.156	B	0.21917	0.037	T	0.47086	-0.9144	10	0.25751	T	0.34	.	11.6225	0.51126	0.851:0.149:0.0:0.0	.	527	Q38SD2	LRRK1_HUMAN	G	527;524	ENSP00000373600:R527G;ENSP00000284395:R524G	ENSP00000284395:R524G	R	+	1	2	LRRK1	99373100	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.543000	0.67225	0.831000	0.34780	0.448000	0.29417	AGA	-	NULL		0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	A	NM_024652	-		101555577	1	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	SNP	1.000	G	G	101555577	A	G	101555577	3	3	239	1	0	0	0	0	1	0	0	0	9034	180	7	5	1621	5	LRRK1	15	101555577	Missense_Mutation	SNP	A	TCGA-X6-A8C7-01A-11D-A36J-09	10006638	101555577	975815	31	19397											
ACSM3	6296	genome.wustl.edu	37	chr16	20803613	20803613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaacacccttcagttGcagagtcagctgttgtcagc	10	10	3	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr16:20803613G>A	ENST00000289416.5	+	12	1985	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.A496T|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	504					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CCCTTCAGTTGCAGAGTCAGC	0.423																																																	0								ENSG00000005187						249	255	253					16																	20803613		2201	4300	6501	ACSM3	SO:0001583	missense	0			-	HGNC	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1510G>A	16.37:g.20803613G>A	ENSP00000289416:p.Ala504Thr	Somatic	0	58	0		0.544305392392877	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.A504T	ENST00000289416.5	37	c.1510	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639091	0.47153	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.62105	0.05;0.05	5.5	0.937	0.19494	AMP-dependent synthetase/ligase (1);	0.815509	0.11196	N	0.589382	T	0.63510	0.2517	M	0.74467	2.265	0.09310	N	0.999999	P;P	0.35307	0.494;0.494	B;B	0.43155	0.41;0.297	T	0.57476	-0.7805	10	0.49607	T	0.09	-31.662	5.0029	0.14273	0.0645:0.2099:0.4003:0.3254	.	496;504	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	T	504;496	ENSP00000289416:A504T;ENSP00000395297:A496T	ENSP00000289416:A504T	A	+	1	0	ACSM3	20711114	0.001000	0.12720	0.612000	0.29024	0.993000	0.82548	0.996000	0.29719	0.626000	0.30322	0.555000	0.69702	GCA	-	pfam_AMP-dep_Synth/Lig		0.423	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	protein_coding	OTTHUMT00000254414.2	G	NM_005622	-		20803613	1	no_errors	ENST00000289416	ensembl	human	known	74_37	missense	SNP	0.005	A	A	20803613	G	A	20803613	3	1	239	1	0	0	0	0	1	0	0	0	185	1319	46	2	1645	2	ACSM3	16	20803613	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		20803613	69551140	32	19398											
PRR14	78994	genome.wustl.edu	37	chr16	30666296	30666296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaagctactcctgcccTgatctggggccccctggccc	12	18	1	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr16:30666296T>C	ENST00000542965.2	+	7	1461	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Silent_p.P335P			Q9BWN1	PRR14_HUMAN	proline rich 14	335	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			ACTCCTGCCCTGATCTGGGGC	0.677																																																	0								ENSG00000156858						45	49	47					16																	30666296		2197	4300	6497	PRR14	SO:0001819	synonymous_variant	0			-	HGNC	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1005T>C	16.37:g.30666296T>C		Somatic	0	57	0		0.544305392392877	153	0.65	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q8WTX2	Silent	SNP							NULL	p.P335	ENST00000542965.2	37	c.1005	CCDS10687.1	16																																																																																			-	NULL		0.677	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	protein_coding	OTTHUMT00000434433.1	T	NM_024031	-		30666296	1	no_errors	ENST00000300835	ensembl	human	known	74_37	silent	SNP	1.000	C	C	30666296	T	C	30666296	2	2	239	1	0	0	0	0	0	0	0	1	12591	1567	55	5		5	PRR14	16	30666296	Silent	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09	9862683	30666296	59688457	33	19399											
BCAR1	9564	genome.wustl.edu	37	chr16	75298316	75298316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaggagcagggctggCcagtcccctgaggccctggg	16	15	0	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr16:75298316C>T	ENST00000418647.3	-	2	366	c.83G>A	c.(82-84)gGc>gAc	p.G28D	BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Intron|BCAR1_ENST00000538440.2_Intron|BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000393422.2_Intron	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	619	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAGGGCTGGCCAGTCCCCTG	0.597																																																	0								ENSG00000050820						18	21	20					16																	75298316		692	1591	2283	BCAR1	SO:0001583	missense	0			-	HGNC	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000418647.3:c.83G>A	16.37:g.75298316C>T	ENSP00000391669:p.Gly28Asp	Somatic	0	54	0		0.544305392392877	4	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP							pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.G28D	ENST00000418647.3	37	c.83	CCDS54040.1	16	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225175	0.22457	.	.	ENSG00000050820	ENST00000418647	T	0.32753	1.44	4.2	-4.99	0.03010	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	9	0.14656	T	0.56	.	6.1126	0.20110	0.0:0.2832:0.4466:0.2701	.	28	E9PCL5	.	D	28	ENSP00000391669:G28D	ENSP00000391669:G28D	G	-	2	0	BCAR1	73855817	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.129000	0.00591	-1.172000	0.02762	-0.367000	0.07326	GGC	-	NULL		0.597	BCAR1-005	KNOWN	basic|CCDS	protein_coding	BCAR1	protein_coding	OTTHUMT00000434666.1	C	NM_014567	-		75298316	-1	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	SNP	0.000	T	T	75298316	C	T	75298316	3	4	239	1	0	0	0	0	1	0	0	0	1348	739	26	2	2798	2	BCAR1	16	75298316	Missense_Mutation	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09	44632020	75298316	15056437	34	19400											
KARS	3735	genome.wustl.edu	37	chr16	75665341	75665341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaggttcgtttctgGcagcttcatccccagggctt	10	11	3	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr16:75665341G>A	ENST00000302445.3	-	9	1264	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.P437S	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	409					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCGTTTCTGGCAGCTTCATC	0.512																																																	0								ENSG00000065427						139	117	124					16																	75665341		2198	4300	6498	KARS	SO:0001583	missense	0			-	HGNC	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1225C>T	16.37:g.75665341G>A	ENSP00000303043:p.Pro409Ser	Somatic	0	44	0		0.544305392392877	402	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP							pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II	p.P437S	ENST00000302445.3	37	c.1309	CCDS10923.1	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181772	0.78677	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.81247	-1.47;-1.47	5.91	5.91	0.95273	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.88403	0.6427	L	0.58510	1.815	0.80722	D	1	B;D	0.89917	0.197;1.0	B;D	0.80764	0.041;0.994	D	0.87899	0.2689	10	0.56958	D	0.05	-32.6318	18.8766	0.92338	0.0:0.0:1.0:0.0	.	437;409	Q15046-2;Q15046	.;SYK_HUMAN	S	437;409	ENSP00000325448:P437S;ENSP00000303043:P409S	ENSP00000303043:P409S	P	-	1	0	KARS	74222842	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CCA	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-ligase_II		0.512	KARS-001	KNOWN	basic|CCDS	protein_coding	KARS	protein_coding	OTTHUMT00000269023.1	G	NM_005548	-		75665341	-1	no_errors	ENST00000319410	ensembl	human	known	74_37	missense	SNP	1.000	A	A	75665341	G	A	75665341	3	1	239	1	0	0	0	0	1	0	0	0	7982	1203	42	2	592	2	KARS	16	75665341	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	367025	75665341	14689412	35	19401											
USP32	84669	genome.wustl.edu	37	chr17	58379033	58379033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattattgaagtgcagcccTttggatgttccaccaaaaga	8	8	0	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr17:58379033T>C	ENST00000300896.4	-	3	413	c.219A>G	c.(217-219)aaA>aaG	p.K73K	USP32_ENST00000586881.1_5'UTR|USP32_ENST00000393003.3_Silent_p.K73K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	73					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTGCAGCCCTTTGGATGTTC	0.368																																																	0								ENSG00000170832						85	83	84					17																	58379033		2203	4300	6503	USP32	SO:0001819	synonymous_variant	0			-	HGNC	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.219A>G	17.37:g.58379033T>C		Somatic	0	64	0		0.544305392392877	30	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP							pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin	p.K73	ENST00000300896.4	37	c.219	CCDS32697.1	17																																																																																			-	NULL		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	protein_coding	OTTHUMT00000449235.2	T	NM_032582	-		58379033	-1	no_errors	ENST00000300896	ensembl	human	known	74_37	silent	SNP	1.000	C	C	58379033	T	C	58379033	2	2	239	1	0	0	0	0	0	0	0	1	17070	1606	56	5		5	USP32	17	58379033	Silent	SNP	T	TCGA-X6-A8C7-01A-11D-A36J-09		58379033	22816177	36	19402											
EFCAB3	146779	genome.wustl.edu	37	chr17	60483901	60483901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggagtccctacactatGggctatggaaaaaggacact	11	8	0	0			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr17:60483901G>T	ENST00000305286.3	+	7	627	c.549G>T	c.(547-549)atG>atT	p.M183I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.M235I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	183							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CCTACACTATGGGCTATGGAA	0.408																																																	0								ENSG00000172421						61	56	58					17																	60483901		2203	4300	6503	EFCAB3	SO:0001583	missense	0			-	HGNC	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.549G>T	17.37:g.60483901G>T	ENSP00000302649:p.Met183Ile	Somatic	0	70	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	J3KQM8	Missense_Mutation	SNP							pfscan_EF_hand_dom	p.M235I	ENST00000305286.3	37	c.705	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	G	4.044	0.005742	0.07866	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.57107	0.42;0.44	4.95	-0.636	0.11508	.	0.812426	0.11371	N	0.570877	T	0.25494	0.0620	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.14282	-1.0478	10	0.20046	T	0.44	.	1.0105	0.01496	0.2738:0.1547:0.4126:0.159	.	183	Q8N7B9	EFCB3_HUMAN	I	235;183	ENSP00000403932:M235I;ENSP00000302649:M183I	ENSP00000302649:M183I	M	+	3	0	EFCAB3	57837633	0.021000	0.18746	0.051000	0.19133	0.026000	0.11368	0.008000	0.13197	0.294000	0.22547	0.591000	0.81541	ATG	-	NULL		0.408	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	protein_coding	OTTHUMT00000379114.1	G	NM_173503	-		60483901	1	no_errors	ENST00000450662	ensembl	human	known	74_37	missense	SNP	0.017	T	T	60483901	G	T	60483901	3	4	239	1	0	0	0	0	1	0	0	0	4937	1348	47	3	739	3	EFCAB3	17	60483901	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	2104868	60483901	20711309	37	19403											
ZNF532	55205	genome.wustl.edu	37	chr18	56601781	56601781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtggggccatctgcagGtcggtgcacttccagaccca	14	12	1	1			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr18:56601781G>T	ENST00000336078.4	+	5	3239	c.2463G>T	c.(2461-2463)agG>agT	p.R821S	ZNF532_ENST00000591230.1_Missense_Mutation_p.R821S|ZNF532_ENST00000589288.1_Missense_Mutation_p.R821S|ZNF532_ENST00000591808.1_Missense_Mutation_p.R821S|ZNF532_ENST00000591083.1_Missense_Mutation_p.R821S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	821					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCATCTGCAGGTCGGTGCACT	0.502																																																	0								ENSG00000074657						143	122	129					18																	56601781		2203	4300	6503	ZNF532	SO:0001583	missense	0			-	HGNC	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2463G>T	18.37:g.56601781G>T	ENSP00000338217:p.Arg821Ser	Somatic	0	60	0		0.544305392392877	307	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R821S	ENST00000336078.4	37	c.2463	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912993	0.72983	.	.	ENSG00000074657	ENST00000336078	T	0.28666	1.6	5.32	3.08	0.35506	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	N	0.21448	0.665	0.53688	D	0.999973	P	0.46395	0.877	B	0.40636	0.335	T	0.02232	-1.1191	10	0.56958	D	0.05	-13.6375	6.875	0.24141	0.3698:0.0:0.6302:0.0	.	821	Q9HCE3	ZN532_HUMAN	S	821	ENSP00000338217:R821S	ENSP00000338217:R821S	R	+	3	2	ZNF532	54752761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.265000	0.43311	1.308000	0.44962	0.561000	0.74099	AGG	-	smart_Znf_C2H2-like		0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	protein_coding	OTTHUMT00000256130.1	G	NM_018181	-		56601781	1	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	SNP	1.000	T	T	56601781	G	T	56601781	3	4	239	1	0	0	0	0	1	0	0	0	17979	1252	44	3	2469	3	ZNF532	18	56601781	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		56601781	21475467	38	19404											
POU2F2	5452	genome.wustl.edu	37	chr19	42626729	42626729	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcttagacattcttatttCtggggacagaggaggaatgg	15	5	2	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr19:42626729C>T	ENST00000526816.2	-	2	44		c.e2-1		POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560558.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000560398.1_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	ATTCTTATTTCTGGGGACAGA	0.612																																																	0								ENSG00000028277						44	45	44					19																	42626729		2203	4300	6503	POU2F2	SO:0001630	splice_region_variant	0			-	HGNC		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.29-1G>A	19.37:g.42626729C>T		Somatic	0	103	0		0.544305392392877	0	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	66	26.67	Q16648|Q7M4M8|Q9BRS4	Splice_Site	SNP							-	e2-1	ENST00000526816.2	37	c.29-1	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828167	0.50845	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	.	.	.	3.69	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2156	0.54404	0.0:0.8259:0.1741:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POU2F2	47318569	1.000000	0.71417	0.950000	0.38849	0.985000	0.73830	5.345000	0.65987	0.871000	0.35750	0.484000	0.47621	.	-	-		0.612	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	protein_coding	OTTHUMT00000387329.3	C		-	Intron	42626729	-1	no_errors	ENST00000342301	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	42626729	C	T	42626729	5	4	239	1	0	0	0	0	0	0	1	0	12274	927	32	2	1415	2	POU2F2	19	42626729	Splice_Site	SNP	C	TCGA-X6-A8C7-01A-11D-A36J-09		42626729	16502254	39	19405											
SLC6A16	28968	genome.wustl.edu	37	chr19	49796572	49796572	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtagtcactcagcagtctGatgaagtagctgcctgaagg	12	9	3	3			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr19:49796572G>T	ENST00000335875.4	-	10	1927	c.1686C>A	c.(1684-1686)atC>atA	p.I562I	SLC6A16_ENST00000454748.3_Silent_p.I562I	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	562					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TCAGCAGTCTGATGAAGTAGC	0.502																																																	0								ENSG00000063127						81	86	84					19																	49796572		2014	4183	6197	SLC6A16	SO:0001819	synonymous_variant	0			-	HGNC	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1686C>A	19.37:g.49796572G>T		Somatic	0	81	0		0.544305392392877	7	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q8IYV4|Q9Y5I9	Silent	SNP							pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.I562	ENST00000335875.4	37	c.1686	CCDS42590.1	19																																																																																			-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.502	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A16	protein_coding	OTTHUMT00000465503.2	G	NM_014037	-		49796572	-1	no_errors	ENST00000335875	ensembl	human	known	74_37	silent	SNP	0.002	T	T	49796572	G	T	49796572	2	4	239	1	0	0	0	0	0	0	0	1	14687	1280	45	3		3	SLC6A16	19	49796572	Silent	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	7169843	49796572	9332411	40	19406											
RPL13A	23521	genome.wustl.edu	37	chr19	49993810	49993810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccgggcccccagccGcatcttctggcggaccgtgc	11	19	2	0			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr19:49993810G>A	ENST00000391857.4	+	4	309	c.233G>A	c.(232-234)cGc>cAc	p.R78H	SNORD34_ENST00000365633.1_RNA|CTD-3148I10.15_ENST00000595815.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD32A_ENST00000364805.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD35A_ENST00000363389.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	78					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|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)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		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;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GCCCCCAGCCGCATCTTCTGG	0.632																																																	0								ENSG00000142541						29	34	33					19																	49993810		2200	4298	6498	RPL13A	SO:0001583	missense	0			-	HGNC	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.233G>A	19.37:g.49993810G>A	ENSP00000375730:p.Arg78His	Somatic	0	50	0		0.544305392392877	4926	0.22	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K505	Missense_Mutation	SNP							pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.R78H	ENST00000391857.4	37	c.233	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083625	0.76642	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.46	4.41	0.53225	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.60340	0.2261	M	0.69523	2.12	0.58432	D	0.999999	B;B	0.31485	0.325;0.046	B;B	0.26416	0.069;0.01	T	0.64334	-0.6432	9	0.87932	D	0	.	13.508	0.61495	0.0:0.0:0.8431:0.1569	.	78;78	Q5QTS3;P40429	.;RL13A_HUMAN	H	78	.	ENSP00000375730:R78H	R	+	2	0	RPL13A	54685622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.115000	0.71566	1.272000	0.44329	0.655000	0.94253	CGC	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc		0.632	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	protein_coding	OTTHUMT00000258989.1	G		-		49993810	1	no_errors	ENST00000391857	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49993810	G	A	49993810	3	1	239	1	0	0	0	0	1	0	0	0	13568	1087	38	1	247	1	RPL13A	19	49993810	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09	197238	49993810	9135173	41	19407											
C20orf96	140680	genome.wustl.edu	37	chr20	257695	257695	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctactcaccgccaccacaGaactcagaatttttttcttc	5	14	3	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chr20:257695G>T	ENST00000360321.2	-	8	953	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	C20orf96_ENST00000400269.3_Missense_Mutation_p.S214Y|C20orf96_ENST00000382369.5_Missense_Mutation_p.S237Y	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	272										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCCACCACAGAACTCAGAAT	0.572																																																	0								ENSG00000196476						127	142	137					20																	257695		2203	4300	6503	C20orf96	SO:0001583	missense	0			-	HGNC	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.815C>A	20.37:g.257695G>T	ENSP00000353470:p.Ser272Tyr	Somatic	0	38	0		0.544305392392877	117	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP							NULL	p.S272Y	ENST00000360321.2	37	c.815	CCDS12994.1	20	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373354	0.42105	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.49432	0.78;0.78;0.78	4.52	0.058	0.14326	.	1.057790	0.07345	N	0.881393	T	0.57403	0.2051	L	0.53249	1.67	0.09310	N	1	D;D;D;D	0.76494	0.995;0.999;0.998;0.998	P;D;D;D	0.63381	0.885;0.914;0.914;0.914	T	0.46707	-0.9172	10	0.87932	D	0	7.8269	6.1059	0.20073	0.4852:0.0:0.5148:0.0	.	214;237;272;237	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	Y	237;272;214	ENSP00000371806:S237Y;ENSP00000353470:S272Y;ENSP00000383128:S214Y	ENSP00000353470:S272Y	S	-	2	0	C20orf96	205695	0.004000	0.15560	0.011000	0.14972	0.149000	0.21700	0.877000	0.28106	0.177000	0.19895	0.313000	0.20887	TCT	-	NULL		0.572	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	protein_coding	OTTHUMT00000077439.2	G	NM_153269	-		257695	-1	no_errors	ENST00000360321	ensembl	human	known	74_37	missense	SNP	0.001	T	T	257695	G	T	257695	3	4	239	1	0	0	0	0	1	0	0	0	2124	942	33	3	292	3	C20orf96	20	257695	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		257695	62767825	42	19408											
PTCHD1	139411	genome.wustl.edu	37	chrX	23398042	23398042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacatggtggctgagaggtGggagtccagcttctgcgaca	16	8	1	2			TCGA-X6-A8C7-01A-11D-A36J-09	TCGA-X6-A8C7-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b052af04-ea5e-4acc-8fd1-1b647128a35b	ef4fb3ba-651c-48b8-b2c6-5e957c154b14	g.chrX:23398042G>T	ENST00000379361.4	+	2	1546	c.686G>T	c.(685-687)tGg>tTg	p.W229L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	229					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCTGAGAGGTGGGAGTCCAGC	0.502																																																	0								ENSG00000165186						211	196	201					X																	23398042		2203	4300	6503	PTCHD1	SO:0001583	missense	0			-	HGNC	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.686G>T	X.37:g.23398042G>T	ENSP00000368666:p.Trp229Leu	Somatic	0	77	0		0.544305392392877	3	0	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP							pfam_Patched,pfscan_SSD	p.W229L	ENST00000379361.4	37	c.686	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622891	0.87460	.	.	ENSG00000165186	ENST00000379361	D	0.87103	-2.21	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.97110	1.0;0.978	D	0.93378	0.6741	10	0.66056	D	0.02	.	18.4327	0.90632	0.0:0.0:1.0:0.0	.	124;229	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	L	229	ENSP00000368666:W229L	ENSP00000368666:W229L	W	+	2	0	PTCHD1	23307963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.381000	0.81170	0.600000	0.82982	TGG	-	pfam_Patched		0.502	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	protein_coding	OTTHUMT00000056047.2	G	NM_173495	-		23398042	1	no_errors	ENST00000379361	ensembl	human	known	74_37	missense	SNP	1.000	T	T	23398042	G	T	23398042	3	4	239	1	0	0	0	0	1	0	0	0	12737	1357	47	3	692	3	PTCHD1	23	23398042	Missense_Mutation	SNP	G	TCGA-X6-A8C7-01A-11D-A36J-09		23398042	131872518	43	19409											
CCNL2	81669	genome.wustl.edu	37	chr1	1334664	1334666	+	In_Frame_Del	DEL	GCC	GCC	-													ctgccgaccctgcagcaccaGccgccgccgccgccgccgcc							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:1334664_1334666delGCC	ENST00000400809.3	-	1	26_28	c.21_23delGGC	c.(19-24)gcggct>gct	p.7_8AA>A	RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_In_Frame_Del_p.7_8AA>A|MRPL20_ENST00000493287.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	7					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A8S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGCAGCACCAgccgccgccgccg	0.773																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000221978																																			CCNL2	SO:0001651	inframe_deletion	0				HGNC	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.21_23delGGC	1.37:g.1334673_1334675delGCC	ENSP00000383611:p.Ala8del	Somatic	0	30	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	In_Frame_Del	DEL							pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.A8in_frame_del	ENST00000400809.3	37	c.23_21	CCDS30557.1	1																																																																																			-	pirsf_Cyclin_L		0.773	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	protein_coding	OTTHUMT00000008146.2	GCC	NM_030937			1334666	-1	no_errors	ENST00000400809	ensembl	human	known	74_37	in_frame_del	DEL	0.005:0.003:0.058	-	-	1334666	GCC	-	1334664	7	5	240	1	0	1	0	1	0	0	0	0	2934	971	34	0	1609	0	CCNL2	1	1334664	In_Frame_Del	DEL	GCC	TCGA-X9-A971-01A-11D-A387-09		1334664	247915957	1	19410											
CALML6	163688	genome.wustl.edu	37	chr1	1848446	1848446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcaggggagcccctcaaCgaggtggaggcggagcagat	17	10	1	1	rs375295754		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:1848446C>T	ENST00000307786.3	+	5	886	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	144	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGCCCCTCAACGAGGTGGAGG	0.672																																																	0								ENSG00000169885	C		0,4406		0,0,2203	72	61	65		432	-6	0	1		65	1,8595		0,1,4297	no	coding-synonymous	CALML6	NM_138705.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		144/182	1848446	1,13001	2203	4298	6501	CALML6	SO:0001819	synonymous_variant	0			-	HGNC	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.432C>T	1.37:g.1848446C>T		Somatic	0	196	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	72	28.71	A2A2M3|Q6Q2C4	Silent	SNP							pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N144	ENST00000307786.3	37	c.432	CCDS30566.1	1																																																																																			-	pfscan_EF_hand_dom		0.672	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	CALML6	protein_coding	OTTHUMT00000276929.1	C	NM_138705	-		1848446	1	no_errors	ENST00000307786	ensembl	human	known	74_37	silent	SNP	0.011	T	T	1848446	C	T	1848446	2	4	240	1	0	0	0	0	0	0	0	1	2592	535	19	1		1	CALML6	1	1848446	Silent	SNP	C	TCGA-X9-A971-01A-11D-A387-09	513782	1848446	247402175	2	19411											
UBXN10	127733	genome.wustl.edu	37	chr1	20517707	20517707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgccatttccggccaaCagatgatttgcaaaccattg	8	11	0	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:20517707C>A	ENST00000375099.3	+	2	737	c.653C>A	c.(652-654)aCa>aAa	p.T218K		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	218	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TTCCGGCCAACAGATGATTTG	0.498																																																	0								ENSG00000162543						102	98	100					1																	20517707		2203	4300	6503	UBXN10	SO:0001583	missense	0			-	HGNC	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.653C>A	1.37:g.20517707C>A	ENSP00000364240:p.Thr218Lys	Somatic	0	45	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q5R386	Missense_Mutation	SNP							pfam_UBX,smart_UBX,pfscan_UBX	p.T218K	ENST00000375099.3	37	c.653	CCDS205.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947595	0.73787	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.03	4.1	0.47936	UBX (3);	0.306644	0.26931	N	0.021767	T	0.69584	0.3127	M	0.62723	1.935	0.38663	D	0.952113	D	0.63880	0.993	P	0.61070	0.883	T	0.75671	-0.3237	9	0.72032	D	0.01	-9.4547	13.914	0.63885	0.0:0.8403:0.1596:0.0	.	218	Q96LJ8	UBX10_HUMAN	K	218	.	ENSP00000364240:T218K	T	+	2	0	UBXN10	20390294	0.977000	0.34250	0.722000	0.30670	0.991000	0.79684	4.088000	0.57678	1.306000	0.44926	0.591000	0.81541	ACA	-	pfam_UBX,smart_UBX,pfscan_UBX		0.498	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN10	protein_coding	OTTHUMT00000007693.1	C	NM_152376	-		20517707	1	no_errors	ENST00000375099	ensembl	human	known	74_37	missense	SNP	0.962	A	A	20517707	C	A	20517707	3	1	240	1	0	0	0	0	1	0	0	0	16919	478	17	3	655	3	UBXN10	1	20517707	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	18669261	20517707	228732914	3	19412											
KIAA0467	23334	genome.wustl.edu	37	chr1	43891314	43891314	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctgagatcccgcaagctGtgagtgtcctcagaacagta	10	10	2	3			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:43891314G>T	ENST00000562955.1	+	19	2814		c.e19+1		SZT2_ENST00000372442.1_Splice_Site	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)						central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCGCAAGCTGTGAGTGTCCT	0.577																																																	0								ENSG00000198198						80	83	82					1																	43891314		2203	4300	6503	SZT2	SO:0001630	splice_region_variant	0			-	HGNC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2814+1G>T	1.37:g.43891314G>T		Somatic	0	58	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	5	37.50	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Splice_Site	SNP							-	e19+1	ENST00000562955.1	37	c.2814+1	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717112	0.89205	.	.	ENSG00000198198	ENST00000372442	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SZT2	43663901	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	.	-	-		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	protein_coding	OTTHUMT00000019517.3	G	NM_015284	-	Intron	43891314	1	no_errors	ENST00000562955	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	43891314	G	T	43891314	5	4	240	1	0	0	0	0	0	0	1	0	8180	1391	48	3	299	3	KIAA0467	1	43891314	Splice_Site	SNP	G	TCGA-X9-A971-01A-11D-A387-09	23373607	43891314	205359307	4	19413											
ZSWIM5	57643	genome.wustl.edu	37	chr1	45671800	45671800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgttcgtatgcccacttttCcgccaccgtcttggcggcgc	10	17	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:45671800C>T	ENST00000359600.5	-	1	428	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	75						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCCCACTTTTCCGCCACCGTC	0.701																																																	0								ENSG00000162415						14	16	15					1																	45671800		1925	4110	6035	ZSWIM5	SO:0001583	missense	0			-	HGNC	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.223G>A	1.37:g.45671800C>T	ENSP00000352614:p.Glu75Lys	Somatic	0	59	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	32	37.25	Q5SXQ9	Missense_Mutation	SNP							pfscan_Znf_SWIM	p.E75K	ENST00000359600.5	37	c.223	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662097	0.67700	.	.	ENSG00000162415	ENST00000359600	T	0.33654	1.4	2.68	1.72	0.24424	.	0.000000	0.64402	U	0.000004	T	0.26738	0.0654	L	0.45352	1.415	0.45250	D	0.998258	B	0.26445	0.149	B	0.25405	0.06	T	0.05178	-1.0901	10	0.25751	T	0.34	-3.5717	9.4427	0.38679	0.0:0.8809:0.0:0.1191	.	75	Q9P217	ZSWM5_HUMAN	K	75	ENSP00000352614:E75K	ENSP00000352614:E75K	E	-	1	0	ZSWIM5	45444387	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.583000	0.60964	0.426000	0.26116	0.442000	0.29010	GAA	-	NULL		0.701	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	protein_coding	OTTHUMT00000024823.2	C	XM_046581	-		45671800	-1	no_errors	ENST00000359600	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45671800	C	T	45671800	3	4	240	1	0	0	0	0	1	0	0	0	18251	864	30	2	3390	2	ZSWIM5	1	45671800	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	1780486	45671800	203578821	5	19414											
C1orf175	374977	genome.wustl.edu	37	chr1	55139736	55139736	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttctgctggggagactcatCcttcacattggggatcctga	11	11	3	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:55139736C>G	ENST00000421030.2	+	10	2133	c.1848C>G	c.(1846-1848)atC>atG	p.I616M	MROH7_ENST00000409996.1_Missense_Mutation_p.I184M|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.I616M|MROH7_ENST00000545244.1_Missense_Mutation_p.I184M|MROH7_ENST00000395690.2_Missense_Mutation_p.I616M|MROH7_ENST00000454855.2_Missense_Mutation_p.I134M|MROH7_ENST00000339553.5_Missense_Mutation_p.I616M	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	616						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGAGACTCATCCTTCACATTG	0.493																																																	0								ENSG00000271723						127	134	131					1																	55139736		1924	4151	6075	MROH7-TTC4	SO:0001583	missense	0			-	HGNC	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1848C>G	1.37:g.55139736C>G	ENSP00000396622:p.Ile616Met	Somatic	0	98	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.I616M	ENST00000421030.2	37	c.1848	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.686974	0.48097	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44;3.44	4.65	1.79	0.24919	.	0.132353	0.33309	N	0.005046	T	0.08358	0.0208	L	0.54323	1.7	0.24354	N	0.994907	P;P;P	0.44380	0.815;0.834;0.834	B;P;B	0.46208	0.41;0.507;0.118	T	0.12760	-1.0535	10	0.56958	D	0.05	-9.9636	4.6333	0.12513	0.0:0.5167:0.0:0.4833	.	616;616;184	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	M	616;184;645;616;184;134;616	ENSP00000396622:I616M;ENSP00000442333:I184M;ENSP00000343211:I616M;ENSP00000387048:I184M;ENSP00000401130:I134M;ENSP00000379044:I616M	ENSP00000343211:I616M	I	+	3	3	HEATR8	54912324	0.987000	0.35691	0.995000	0.50966	0.980000	0.70556	0.051000	0.14141	0.629000	0.30376	0.558000	0.71614	ATC	-	superfamily_ARM-type_fold		0.493	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	protein_coding	OTTHUMT00000346978.1	C	NM_198547	-		55139736	1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	SNP	0.993	G	G	55139736	C	G	55139736	3	3	240	1	0	0	0	0	1	0	0	0	2018	845	30	4	1878	4	C1orf175	1	55139736	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	9467936	55139736	194110885	6	19415											
TARS2	80222	genome.wustl.edu	37	chr1	150469344	150469344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgcttcttcctgccacGagggacaagggtgtataatg	13	9	1	0	rs367984492		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:150469344G>A	ENST00000369064.3	+	9	1014	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	327					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTCCTGCCACGAGGGACAAGG	0.537																																																	0								ENSG00000143374						77	68	71					1																	150469344		2203	4300	6503	TARS2	SO:0001583	missense	0			-	HGNC	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.980G>A	1.37:g.150469344G>A	ENSP00000358060:p.Arg327Gln	Somatic	0	88	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP							pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R327Q	ENST00000369064.3	37	c.980	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013717	0.93404	.	.	ENSG00000143374	ENST00000369064	.	.	.	5.38	5.38	0.77491	.	0.252179	0.33290	N	0.005061	T	0.60508	0.2274	M	0.73319	2.225	0.80722	D	1	D	0.69078	0.997	P	0.53954	0.738	T	0.64918	-0.6294	9	0.62326	D	0.03	-18.1837	13.2495	0.60043	0.0768:0.0:0.9232:0.0	.	327	Q9BW92	SYTM_HUMAN	Q	327	.	ENSP00000358060:R327Q	R	+	2	0	TARS2	148735968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.867000	0.63013	2.801000	0.96364	0.655000	0.94253	CGA	-	tigrfam_Thr-tRNA-ligase_IIa		0.537	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	protein_coding	OTTHUMT00000035847.1	G	NM_025150	-		150469344	1	no_errors	ENST00000369064	ensembl	human	known	74_37	missense	SNP	1.000	A	A	150469344	G	A	150469344	3	1	240	1	0	0	0	0	1	0	0	0	15567	1058	37	1	1014	1	TARS2	1	150469344	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	95329608	150469344	98781277	7	19416											
ASPM	259266	genome.wustl.edu	37	chr1	197073160	197073160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttcggacaaggtatcCtctaacaaatgcttgcagtt	8	10	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:197073160C>T	ENST00000367409.4	-	18	5477	c.5221G>A	c.(5221-5223)Gga>Aga	p.G1741R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1741	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACAAGGTATCCTCTAACAAAT	0.378																																																	0								ENSG00000066279						120	122	121					1																	197073160		2203	4299	6502	ASPM	SO:0001583	missense	0			-	HGNC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5221G>A	1.37:g.197073160C>T	ENSP00000356379:p.Gly1741Arg	Somatic	0	87	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP							pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.G1741R	ENST00000367409.4	37	c.5221	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043951	0.55110	.	.	ENSG00000066279	ENST00000367409	T	0.41065	1.01	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77332	-0.2627	10	0.41790	T	0.15	.	14.5745	0.68235	0.0:0.9305:0.0:0.0694	.	1741	Q8IZT6	ASPM_HUMAN	R	1741	ENSP00000356379:G1741R	ENSP00000356379:G1741R	G	-	1	0	ASPM	195339783	1.000000	0.71417	0.940000	0.37924	0.402000	0.30811	5.617000	0.67716	2.843000	0.97960	0.585000	0.79938	GGA	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	protein_coding	OTTHUMT00000088256.1	C	NM_018136	-		197073160	-1	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	SNP	1.000	T	T	197073160	C	T	197073160	3	4	240	1	0	0	0	0	1	0	0	0	1056	690	24	2	5256	2	ASPM	1	197073160	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	46603816	197073160	52177461	8	19417											
GPR25	2848	genome.wustl.edu	37	chr1	200842925	200842925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatcgagagcacgtttGtgggctcctggctgcccttc	12	14	0	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr1:200842925G>T	ENST00000304244.2	+	1	843	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GAGCACGTTTGTGGGCTCCTG	0.731																																																	0								ENSG00000170128						27	30	29					1																	200842925		2202	4297	6499	GPR25	SO:0001583	missense	0			-	HGNC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.760G>T	1.37:g.200842925G>T	ENSP00000301917:p.Val254Leu	Somatic	0	117	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A0AVJ5	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V254L	ENST00000304244.2	37	c.760	CCDS1405.1	1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947945	0.34377	.	.	ENSG00000170128	ENST00000304244	T	0.73152	-0.72	4.66	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30101	U	0.010409	T	0.49355	0.1552	N	0.17764	0.52	0.29651	N	0.843993	B	0.25048	0.117	B	0.32393	0.145	T	0.43669	-0.9377	10	0.02654	T	1	-15.2964	8.6926	0.34275	0.2933:0.0:0.7067:0.0	.	254	O00155	GPR25_HUMAN	L	254	ENSP00000301917:V254L	ENSP00000301917:V254L	V	+	1	0	GPR25	199109548	0.018000	0.18449	1.000000	0.80357	0.919000	0.55068	0.758000	0.26447	0.949000	0.37715	0.462000	0.41574	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.731	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR25	protein_coding	OTTHUMT00000087056.1	G	NM_005298	-		200842925	1	no_errors	ENST00000304244	ensembl	human	known	74_37	missense	SNP	0.998	T	T	200842925	G	T	200842925	3	4	240	1	0	0	0	0	1	0	0	0	6685	1377	48	3	762	3	GPR25	1	200842925	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	3769765	200842925	48407696	9	19418											
RAD51AP2	729475	genome.wustl.edu	37	chr2	17696723	17696723	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttccacagtgcttagaAgttcattttccctactaatt	5	9	1	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr2:17696723A>T	ENST00000399080.2	-	1	2983	c.2960T>A	c.(2959-2961)cTt>cAt	p.L987H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	987										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTGCTTAGAAGTTCATTTTC	0.318																																																	0								ENSG00000214842						98	93	94					2																	17696723		1811	4076	5887	RAD51AP2	SO:0001583	missense	0			-	HGNC	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2960T>A	2.37:g.17696723A>T	ENSP00000382030:p.Leu987His	Somatic	0	22	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00		Missense_Mutation	SNP							NULL	p.L987H	ENST00000399080.2	37	c.2960	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364708	0.24684	.	.	ENSG00000214842	ENST00000399080	T	0.27402	1.67	5.17	-3.37	0.04898	.	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23904	-1.0175	9	0.87932	D	0	-0.4452	1.4532	0.02380	0.2718:0.1036:0.3264:0.2982	.	987	Q09MP3	R51A2_HUMAN	H	987	ENSP00000382030:L987H	ENSP00000382030:L987H	L	-	2	0	RAD51AP2	17560204	0.995000	0.38212	0.459000	0.27081	0.788000	0.44548	0.930000	0.28858	-0.486000	0.06744	-0.290000	0.09829	CTT	-	NULL		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	protein_coding	OTTHUMT00000323801.3	A	NM_001099218	-		17696723	-1	no_errors	ENST00000399080	ensembl	human	known	74_37	missense	SNP	0.007	T	T	17696723	A	T	17696723	3	4	240	1	0	0	0	0	1	0	0	0	12995	72	3	5	531	5	RAD51AP2	2	17696723	Missense_Mutation	SNP	A	TCGA-X9-A971-01A-11D-A387-09		17696723	225502650	10	19419											
FN1	2335	genome.wustl.edu	37	chr2	216243906	216243906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaaggttgatttcttTcattggtccggtcttctcct	10	9	4	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr2:216243906T>C	ENST00000359671.1	-	33	5561	c.5296A>G	c.(5296-5298)Aaa>Gaa	p.K1766E	FN1_ENST00000336916.4_Missense_Mutation_p.K1766E|FN1_ENST00000432072.2_Missense_Mutation_p.K1767E|FN1_ENST00000323926.6_Missense_Mutation_p.K1857E|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000346544.3_Missense_Mutation_p.K1766E|FN1_ENST00000357009.2_Missense_Mutation_p.K1766E|FN1_ENST00000421182.1_Missense_Mutation_p.K1676E|FN1_ENST00000345488.5_Missense_Mutation_p.K1766E|FN1_ENST00000357867.4_Missense_Mutation_p.K1676E|FN1_ENST00000446046.1_Missense_Mutation_p.K1766E|FN1_ENST00000443816.1_Missense_Mutation_p.K1676E|FN1_ENST00000356005.4_Missense_Mutation_p.K1676E|FN1_ENST00000354785.4_Missense_Mutation_p.K1857E			P02751	FINC_HUMAN	fibronectin 1	1766	Fibronectin type-III 13. {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)	TTGATTTCTTTCATTGGTCCG	0.507																																																	0								ENSG00000115414						148	136	140					2																	216243906		2203	4300	6503	FN1	SO:0001583	missense	0			-	HGNC		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.5296A>G	2.37:g.216243906T>C	ENSP00000352696:p.Lys1766Glu	Somatic	0	80	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	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	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.K1857E	ENST00000359671.1	37	c.5569		2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703358	0.88924	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.78049	2.395	0.30923	N	0.727807	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.974;0.986;1.0;0.995;0.998;0.998;1.0;0.998;0.986;0.986;0.995;0.991	D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.964;0.972;0.996;0.992;0.989;0.993;0.996;0.993;0.972;0.972;0.989;0.984	T	0.75964	-0.3132	10	0.28530	T	0.3	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1766;1767;1857;1676;1676;1766;1766;1767;1676;1676;1857;1766	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	E	1676;1857;1766;1676;1857;1767;1766;1766;1766;1766;1766;1676;1767;1676;483	ENSP00000394423:K1676E;ENSP00000323534:K1857E;ENSP00000338200:K1766E;ENSP00000350534:K1676E;ENSP00000346839:K1857E;ENSP00000352696:K1766E;ENSP00000265312:K1766E;ENSP00000273049:K1766E;ENSP00000349509:K1766E;ENSP00000410422:K1766E;ENSP00000415018:K1676E;ENSP00000399538:K1767E;ENSP00000348285:K1676E;ENSP00000416139:K483E	ENSP00000265313:K1767E	K	-	1	0	FN1	215952151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.856000	0.62932	2.371000	0.80710	0.533000	0.62120	AAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		T	NM_212476	-		216243906	-1	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	SNP	1.000	C	C	216243906	T	C	216243906	3	2	240	1	0	0	0	0	1	0	0	0	5964	1792	62	5	1916	5	FN1	2	216243906	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	198547183	216243906	26955467	11	19420											
EDEM1	9695	genome.wustl.edu	37	chr3	5257568	5257568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttaaagagcatctacAtgcgacagattgaccagatg	9	10	1	4			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr3:5257568A>G	ENST00000256497.4	+	12	2072	c.1939A>G	c.(1939-1941)Atg>Gtg	p.M647V		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	647					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAGCATCTACATGCGACAGAT	0.448																																																	0								ENSG00000134109						227	175	193					3																	5257568		2203	4300	6503	EDEM1	SO:0001583	missense	0			-	HGNC	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1939A>G	3.37:g.5257568A>G	ENSP00000256497:p.Met647Val	Somatic	0	115	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	46	19.30	A8K9C8|B4DXP3	Missense_Mutation	SNP							pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.M647V	ENST00000256497.4	37	c.1939	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	A	17.61	3.433290	0.62844	.	.	ENSG00000134109	ENST00000256497	D	0.82433	-1.61	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.64997	1.995	0.80722	D	1	P	0.35383	0.498	B	0.33454	0.164	T	0.81206	-0.1038	10	0.46703	T	0.11	-33.0056	15.1853	0.72996	1.0:0.0:0.0:0.0	.	647	Q92611	EDEM1_HUMAN	V	647	ENSP00000256497:M647V	ENSP00000256497:M647V	M	+	1	0	EDEM1	5232568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.772000	0.91757	1.984000	0.57885	0.533000	0.62120	ATG	-	NULL		0.448	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	protein_coding	OTTHUMT00000337566.2	A	NM_014674	-		5257568	1	no_errors	ENST00000256497	ensembl	human	known	74_37	missense	SNP	1.000	G	G	5257568	A	G	5257568	3	3	240	1	0	0	0	0	1	0	0	0	4913	217	8	5	1985	5	EDEM1	3	5257568	Missense_Mutation	SNP	A	TCGA-X9-A971-01A-11D-A387-09		5257568	192764862	12	19421											
SRGAP3	9901	genome.wustl.edu	37	chr3	9106121	9106121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcacagagctgcggcGctggggccggtcctcgtgcc	14	15	2	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr3:9106121G>A	ENST00000383836.3	-	5	1058	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R211C|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	211	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGCTGCGGCGCTGGGGCCGG	0.597			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0								ENSG00000196220						124	113	117					3																	9106121		2203	4300	6503	SRGAP3	SO:0001583	missense	0			-	HGNC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.631C>T	3.37:g.9106121G>A	ENSP00000373347:p.Arg211Cys	Somatic	0	62	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	Q8IX13|Q8IZV8	Missense_Mutation	SNP							pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R211C	ENST00000383836.3	37	c.631	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184619	0.78677	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.55413	0.52;0.52	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;P;D;D	0.79784	0.993;0.742;0.978;0.952	T	0.77403	-0.2601	10	0.87932	D	0	.	13.1447	0.59454	0.0:0.0:0.8399:0.1601	.	211;80;211;211	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	C	211;211;91	ENSP00000373347:R211C;ENSP00000353587:R211C	ENSP00000353587:R211C	R	-	1	0	SRGAP3	9081121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.257000	0.32932	2.452000	0.82932	0.411000	0.27672	CGC	-	NULL		0.597	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	protein_coding	OTTHUMT00000207137.3	G		-		9106121	-1	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	SNP	1.000	A	A	9106121	G	A	9106121	3	1	240	1	0	0	0	0	1	0	0	0	15154	1087	38	1	2775	1	SRGAP3	3	9106121	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	3848553	9106121	188916309	13	19422											
SLC22A14	9389	genome.wustl.edu	37	chr3	38357847	38357847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctggtgtctctggcctCggtggctggagccatcttgt	17	10	2	0	rs114208565	byFrequency	TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr3:38357847C>T	ENST00000273173.4	+	9	1656	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	SLC22A14_ENST00000448498.1_Missense_Mutation_p.S522L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	522					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCTCTGGCCTCGGTGGCTGGA	0.627													C|||	2	0.000399361	0	0	5008	,	,		17943	0		0.002	False		,,,				2504	0																0								ENSG00000144671	C	LEU/SER	0,4406		0,0,2203	102	82	89		1565	-7.2	0	3	dbSNP_132	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC22A14	NM_004803.3	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	522/595	38357847	2,13004	2203	4300	6503	SLC22A14	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1565C>T	3.37:g.38357847C>T	ENSP00000273173:p.Ser522Leu	Somatic	0	112	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP							pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S522L	ENST00000273173.4	37	c.1565	CCDS2677.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.036	-0.198501	0.06219	0.0	2.33E-4	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.74737	-0.87;-0.87	4.2	-7.15	0.01521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.717397	0.12855	N	0.433562	T	0.54398	0.1856	L	0.27053	0.805	0.09310	N	1	B	0.24533	0.105	B	0.26969	0.075	T	0.41538	-0.9503	10	0.51188	T	0.08	.	8.3481	0.32286	0.0:0.2372:0.4199:0.343	.	522	Q9Y267	S22AE_HUMAN	L	522;507;522	ENSP00000396283:S522L;ENSP00000273173:S522L	ENSP00000273173:S522L	S	+	2	0	SLC22A14	38332851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.241000	0.08940	-1.571000	0.01663	-1.114000	0.02060	TCG	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.627	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	protein_coding	OTTHUMT00000253742.3	C	NM_004803	rs114208565		38357847	1	no_errors	ENST00000273173	ensembl	human	known	74_37	missense	SNP	0.000	T	T	38357847	C	T	38357847	3	4	240	1	0	0	0	0	1	0	0	0	14453	893	31	1	1599	1	SLC22A14	3	38357847	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	29251726	38357847	159664583	14	19423											
CACNA1D	776	genome.wustl.edu	37	chr3	53785793	53785793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcagtgtgttgaataCgccttgaaagcacgtccctt	10	11	1	2	rs148248303		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr3:53785793C>T	ENST00000350061.5	+	28	4045	c.3534C>T	c.(3532-3534)taC>taT	p.Y1178Y	CACNA1D_ENST00000540742.1_Silent_p.Y85Y|CACNA1D_ENST00000288139.4_Silent_p.Y1198Y|CACNA1D_ENST00000422281.2_Silent_p.Y1178Y	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1178					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|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 potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTTGAATACGCCTTGAAAG	0.517																																																	0								ENSG00000157388	C	,,	1,4405	2.1+/-5.4	0,1,2202	189	167	174		3594,3534,3534	0.3	1	3	dbSNP_134	174	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1198/2182,1178/2138,1178/2162	53785793	1,13005	2203	4300	6503	CACNA1D	SO:0001819	synonymous_variant	0			-	HGNC	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3534C>T	3.37:g.53785793C>T		Somatic	0	80	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP							pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.Y1198	ENST00000350061.5	37	c.3594	CCDS46848.1	3																																																																																			-	NULL		0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	C	NM_000720	rs148248303		53785793	1	no_errors	ENST00000288139	ensembl	human	known	74_37	silent	SNP	1.000	T	T	53785793	C	T	53785793	2	4	240	1	0	0	0	0	0	0	0	1	2543	547	19	1		1	CACNA1D	3	53785793	Silent	SNP	C	TCGA-X9-A971-01A-11D-A387-09	15427946	53785793	144236637	15	19424											
KIAA1211	57482	genome.wustl.edu	37	chr4	57193907	57193907	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtcaacagaaccagcCtggctggctttggccaaaag	11	13	1	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr4:57193907C>A	ENST00000504228.1	+	9	3744	c.3639C>A	c.(3637-3639)gcC>gcA	p.A1213A	KIAA1211_ENST00000264229.6_Silent_p.A1213A|KIAA1211_ENST00000541073.1_Silent_p.A1206A			Q6ZU35	K1211_HUMAN	KIAA1211	1213										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGAACCAGCCTGGCTGGCTT	0.547																																																	0								ENSG00000109265						101	106	105					4																	57193907		1868	4088	5956	KIAA1211	SO:0001819	synonymous_variant	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3639C>A	4.37:g.57193907C>A		Somatic	1	127	0.78		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	70	30.00	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP							NULL	p.A1213	ENST00000504228.1	37	c.3639	CCDS43230.1	4																																																																																			-	NULL		0.547	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	C	NM_020722	-		57193907	1	no_errors	ENST00000504228	ensembl	human	known	74_37	silent	SNP	1.000	A	A	57193907	C	A	57193907	2	1	240	1	0	0	0	0	0	0	0	1	8217	668	24	3		3	KIAA1211	4	57193907	Silent	SNP	C	TCGA-X9-A971-01A-11D-A387-09		57193907	133960369	16	19425											
CENPC1	1060	genome.wustl.edu	37	chr4	68338334	68338334	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgatctttcatctttttaTctgagtaaaaagaagaacac	6	6	4	4			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr4:68338334T>A	ENST00000273853.6	-	19	3071	c.2821A>T	c.(2821-2823)Ata>Tta	p.I941L		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	941	MIF2 homology domain III.				chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CATCTTTTTATCTGAGTAAAA	0.239																																																	0								ENSG00000145241						26	24	25					4																	68338334		1684	3895	5579	CENPC	SO:0001583	missense	0			-	HGNC	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2821A>T	4.37:g.68338334T>A	ENSP00000273853:p.Ile941Leu	Somatic	0	184	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	113	60	64.94	Q8IW27|Q9P0M5	Missense_Mutation	SNP							pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.I941L	ENST00000273853.6	37	c.2821	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059418	0.36373	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.45	4.45	0.53987	.	0.116384	0.37715	N	0.001962	T	0.29524	0.0736	N	0.20986	0.625	0.32107	N	0.589801	B	0.26708	0.157	B	0.15870	0.014	T	0.31998	-0.9923	9	0.23891	T	0.37	-19.5767	10.0283	0.42085	0.0:0.0:0.0:1.0	.	941	Q03188	CENPC_HUMAN	L	941	.	ENSP00000273853:I941L	I	-	1	0	CENPC1	68020929	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.559000	0.45888	1.853000	0.53794	0.402000	0.26972	ATA	-	NULL		0.239	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	protein_coding	OTTHUMT00000362001.2	T		-		68338334	-1	no_errors	ENST00000273853	ensembl	human	known	74_37	missense	SNP	1.000	A	A	68338334	T	A	68338334	3	1	240	1	0	0	0	0	1	0	0	0	3231	1435	50	5	14	5	CENPC1	4	68338334	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	11144427	68338334	122815942	17	19426											
AGXT2L1	64850	genome.wustl.edu	37	chr4	109683976	109683976	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccccctctctgcacttaCttccgggccagggtgccctt	9	17	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr4:109683976C>T	ENST00000296486.3	-	1	211				ETNPPL_ENST00000512646.1_Splice_Site|ETNPPL_ENST00000411864.2_Intron|ETNPPL_ENST00000510706.1_Splice_Site	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase							mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCTGCACTTACTTCCGGGCCA	0.637																																																	0								ENSG00000164089						134	124	127					4																	109683976		2203	4300	6503	ETNPPL	SO:0001627	intron_variant	0			-	HGNC	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.56+22G>A	4.37:g.109683976C>T		Somatic	0	72	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	25.00	B7Z1Y0|E9PBY0|Q9H174	Splice_Site	SNP							-	e0+1	ENST00000296486.3	37	c.1+1	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	2.593	-0.294732	0.05568	.	.	ENSG00000164089	ENST00000512646	.	.	.	2.91	-2.67	0.06059	.	.	.	.	.	.	.	.	.	.	.	0.34783	D	0.734913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.526	0.02526	0.1372:0.3744:0.136:0.3523	.	.	.	.	.	-1	.	.	.	-	.	.	AGXT2L1	109903425	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.457000	0.06745	-0.391000	0.07763	0.460000	0.39030	.	-	-		0.637	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	protein_coding	OTTHUMT00000363508.1	C	NM_031279	-		109683976	-1	no_errors	ENST00000510706	ensembl	human	putative	74_37	splice_site	SNP	0.000	T	T	109683976	C	T	109683976	1	4	240	0	1	0	0	0	0	0	0	0	406	579	20	2		2	AGXT2L1	4	109683976	Intron	SNP	C	TCGA-X9-A971-01A-11D-A387-09	41345642	109683976	81470300	18	19427											
FAM81B	153643	genome.wustl.edu	37	chr5	94728590	94728590	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggctcagacaataacCaagaaaagaaagcaagtact	7	9	1	3			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr5:94728590C>G	ENST00000283357.5	+	2	263	c.217C>G	c.(217-219)Caa>Gaa	p.Q73E	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	73						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGACAATAACCAAGAAAAGAA	0.388																																																	0								ENSG00000153347						43	42	43					5																	94728590		1831	4085	5916	FAM81B	SO:0001583	missense	0			-	HGNC		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.217C>G	5.37:g.94728590C>G	ENSP00000283357:p.Gln73Glu	Somatic	0	99	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	102	23.31		Missense_Mutation	SNP							NULL	p.Q73E	ENST00000283357.5	37	c.217	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947883	0.34377	.	.	ENSG00000153347	ENST00000283357	T	0.18960	2.18	5.69	0.617	0.17619	.	0.772034	0.11825	N	0.525818	T	0.17450	0.0419	M	0.62723	1.935	0.21473	N	0.999677	B	0.09022	0.002	B	0.09377	0.004	T	0.25537	-1.0129	10	0.30078	T	0.28	-1.333	3.0158	0.06059	0.2369:0.3903:0.2849:0.0879	.	73	Q96LP2	FA81B_HUMAN	E	73	ENSP00000283357:Q73E	ENSP00000283357:Q73E	Q	+	1	0	FAM81B	94754346	0.995000	0.38212	0.998000	0.56505	0.831000	0.47069	0.390000	0.20768	0.704000	0.31869	0.563000	0.77884	CAA	-	NULL		0.388	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	protein_coding	OTTHUMT00000370690.1	C	NM_152548	-		94728590	1	no_errors	ENST00000283357	ensembl	human	known	74_37	missense	SNP	0.848	G	G	94728590	C	G	94728590	3	3	240	1	0	0	0	0	1	0	0	0	5631	595	21	4	223	4	FAM81B	5	94728590	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09		94728590	86186670	19	19428											
SLC35A4	113829	genome.wustl.edu	37	chr5	139947189	139947191	+	In_Frame_Del	DEL	GCT	GCT	-													tctgtgcgtcaggggttagcGctgctgctgctgatggctgc							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr5:139947189_139947191delGCT	ENST00000514199.1	+	2	2121_2123	c.435_437delGCT	c.(433-438)gcgctg>gcg	p.L149del	APBB3_ENST00000507279.1_Intron|APBB3_ENST00000357560.4_5'Flank|SLC35A4_ENST00000323146.3_In_Frame_Del_p.L149del			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	149	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGTTAGCGCTGCTGCTGCTG	0.635																																																	0								ENSG00000176087																																			SLC35A4	SO:0001651	inframe_deletion	0				HGNC	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.435_437delGCT	5.37:g.139947198_139947200delGCT	ENSP00000424566:p.Leu149del	Somatic	0	47	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A8K013	In_Frame_Del	DEL							pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr	p.L149in_frame_del	ENST00000514199.1	37	c.435_437	CCDS4231.1	5																																																																																			-	pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr		0.635	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35A4	protein_coding	OTTHUMT00000372815.1	GCT	NM_080670			139947191	1	no_errors	ENST00000323146	ensembl	human	known	74_37	in_frame_del	DEL	0.375:0.638:0.998	-	-	139947191	GCT	-	139947189	7	5	240	1	0	1	0	1	0	0	0	0	14581	1074	38	0	437	0	SLC35A4	5	139947189	In_Frame_Del	DEL	GCT	TCGA-X9-A971-01A-11D-A387-09	45218599	139947189	40968071	20	19429											
SLC25A2	83884	genome.wustl.edu	37	chr5	140683011	140683011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctatcttccctgacatcTccatttcatacatggtctgt	5	12	4	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr5:140683011T>C	ENST00000239451.4	-	1	601	c.422A>G	c.(421-423)gAg>gGg	p.E141G		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	141					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCTGACATCTCCATTTCATA	0.522																																																	0								ENSG00000120329						99	107	104					5																	140683011		2203	4300	6503	SLC25A2	SO:0001583	missense	0			-	HGNC	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.422A>G	5.37:g.140683011T>C	ENSP00000239451:p.Glu141Gly	Somatic	0	76	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP							pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.E141G	ENST00000239451.4	37	c.422	CCDS4258.1	5	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542055	0.27563	.	.	ENSG00000120329	ENST00000239451	T	0.79749	-1.3	3.78	2.57	0.30868	Mitochondrial carrier domain (2);	0.415220	0.23904	U	0.043404	T	0.66086	0.2754	L	0.37800	1.135	0.31099	N	0.710615	B	0.09022	0.002	B	0.10450	0.005	T	0.56444	-0.7978	10	0.24483	T	0.36	-11.8776	4.2678	0.10771	0.0:0.1088:0.2036:0.6875	.	141	Q9BXI2	ORNT2_HUMAN	G	141	ENSP00000239451:E141G	ENSP00000239451:E141G	E	-	2	0	SLC25A2	140663195	0.999000	0.42202	0.525000	0.27900	0.823000	0.46562	2.662000	0.46766	0.777000	0.33496	0.528000	0.53228	GAG	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.522	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A2	protein_coding	OTTHUMT00000251799.2	T	NM_031947	-		140683011	-1	no_errors	ENST00000239451	ensembl	human	known	74_37	missense	SNP	0.891	C	C	140683011	T	C	140683011	3	2	240	1	0	0	0	0	1	0	0	0	14490	1551	54	5	487	5	SLC25A2	5	140683011	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	735822	140683011	40232249	21	19430											
ZNF354B	117608	genome.wustl.edu	37	chr5	178310890	178310890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccttcagacagagttcCgctctcattcaacatcagag	7	12	4	3	rs143278265	byFrequency	TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr5:178310890C>T	ENST00000322434.3	+	5	1663	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	479					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(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACAGAGTTCCGCTCTCATTC	0.393																																																	0								ENSG00000178338						116	115	115					5																	178310890		2203	4300	6503	ZNF354B	SO:0001819	synonymous_variant	0			-	HGNC	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1437C>T	5.37:g.178310890C>T		Somatic	0	64	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	A8K0V2|Q5U5Z4	Silent	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S479	ENST00000322434.3	37	c.1437	CCDS4439.1	5																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354B	protein_coding	OTTHUMT00000253482.1	C	NM_058230	-		178310890	1	no_errors	ENST00000322434	ensembl	human	known	74_37	silent	SNP	0.127	T	T	178310890	C	T	178310890	2	4	240	1	0	0	0	0	0	0	0	1	17872	639	23	1		1	ZNF354B	5	178310890	Silent	SNP	C	TCGA-X9-A971-01A-11D-A387-09	37627879	178310890	2604370	22	19431											
SKIV2L	6499	genome.wustl.edu	37	chr6	31934559	31934559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttgctgcgagtggatgCcctcagggtggaggacatga	15	9	1	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr6:31934559C>T	ENST00000375394.2	+	19	2389	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	SKIV2L_ENST00000544581.1_Missense_Mutation_p.A566V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	759					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CGAGTGGATGCCCTCAGGGTG	0.567																																																	0								ENSG00000204351						114	101	106					6																	31934559		2203	4300	6503	SKIV2L	SO:0001583	missense	0			-	HGNC		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2276C>T	6.37:g.31934559C>T	ENSP00000364543:p.Ala759Val	Somatic	0	87	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP							pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A759V	ENST00000375394.2	37	c.2276	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806953	0.90623	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.51574	0.82;0.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	M	0.72894	2.215	0.80722	D	1	P	0.50943	0.94	B	0.40329	0.326	T	0.40232	-0.9574	10	0.37606	T	0.19	-23.7467	18.5346	0.91006	0.0:1.0:0.0:0.0	.	759	Q15477	SKIV2_HUMAN	V	759;601;566	ENSP00000364543:A759V;ENSP00000442645:A566V	ENSP00000364543:A759V	A	+	2	0	SKIV2L	32042538	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.757000	0.55212	2.755000	0.94549	0.655000	0.94253	GCC	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	protein_coding	OTTHUMT00000076264.3	C		-		31934559	1	no_errors	ENST00000375394	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31934559	C	T	31934559	3	4	240	1	0	0	0	0	1	0	0	0	14367	739	26	2	2350	2	SKIV2L	6	31934559	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09		31934559	139180508	23	19432											
SMPD2	6610	genome.wustl.edu	37	chr6	109762653	109762653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacctggctttgctggaGgaggtgagattgtgcagcac	15	8	0	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr6:109762653G>T	ENST00000258052.3	+	2	503	c.144G>T	c.(142-144)gaG>gaT	p.E48D	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	48					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTTTGCTGGAGGAGGTGAGAT	0.617																																																	0								ENSG00000135587						104	112	109					6																	109762653		2203	4300	6503	SMPD2	SO:0001583	missense	0			-	HGNC	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.144G>T	6.37:g.109762653G>T	ENSP00000258052:p.Glu48Asp	Somatic	0	65	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q5TED1|Q9BWR3	Missense_Mutation	SNP							pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.E48D	ENST00000258052.3	37	c.144	CCDS5075.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092674	0.76756	.	.	ENSG00000135587	ENST00000258052	T	0.80393	-1.37	5.59	3.82	0.43975	Endonuclease/exonuclease/phosphatase (2);	0.213181	0.49916	D	0.000125	T	0.52256	0.1723	N	0.14661	0.345	0.36271	D	0.855197	B;P	0.38711	0.263;0.643	B;B	0.39935	0.314;0.301	T	0.59080	-0.7521	10	0.72032	D	0.01	-17.6559	8.5419	0.33397	0.1771:0.0:0.8229:0.0	.	48;48	B2R8U8;O60906	.;NSMA_HUMAN	D	48	ENSP00000258052:E48D	ENSP00000258052:E48D	E	+	3	2	SMPD2	109869346	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.300000	0.33436	0.740000	0.32651	0.655000	0.94253	GAG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.617	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	protein_coding	OTTHUMT00000041755.1	G		-		109762653	1	no_errors	ENST00000258052	ensembl	human	known	74_37	missense	SNP	1.000	T	T	109762653	G	T	109762653	3	4	240	1	0	0	0	0	1	0	0	0	14813	991	35	3	150	3	SMPD2	6	109762653	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	77828094	109762653	61352414	24	19433											
THSD7A	221981	genome.wustl.edu	37	chr7	11514099	11514099	+	Frame_Shift_Del	DEL	C	C	-													aggtgtcctcaatgcactggCcccagggaccagtttgccag							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr7:11514099delC	ENST00000423059.4	-	8	2365	c.2114delG	c.(2113-2115)ggcfs	p.G705fs	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	705	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AATGCACTGGCCCCAGGGACC	0.507										HNSCC(18;0.044)																																							0								ENSG00000005108						82	81	81					7																	11514099		2020	4183	6203	THSD7A	SO:0001589	frameshift_variant	0				HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2114delG	7.37:g.11514099delC	ENSP00000406482:p.Gly705fs	Somatic	0	81	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82		Frame_Shift_Del	DEL							pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G705fs	ENST00000423059.4	37	c.2114	CCDS47543.1	7																																																																																			-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2			11514099	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	11514099	C	-	11514099	7	5	240	1	0	1	0	1	0	0	0	0	15886	739	26	0	2939	0	THSD7A	7	11514099	Frame_Shift_Del	DEL	C	TCGA-X9-A971-01A-11D-A387-09		11514099	147624564	25	19434											
DNAH11	8701	genome.wustl.edu	37	chr7	21775267	21775267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcccagacagttctcGttcacacaacagagacagct	6	15	3	2	rs572118148		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr7:21775267G>A	ENST00000409508.3	+	46	7481	c.7450G>A	c.(7450-7452)Gtt>Att	p.V2484I	DNAH11_ENST00000328843.6_Missense_Mutation_p.V2491I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2491	AAA 3. {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						GACAGTTCTCGTTCACACAAC	0.418									Kartagener syndrome				G|||	1	0.000199681	0	0	5008	,	,		20664	0		0.001	False		,,,				2504	0																0								ENSG00000105877						55	52	53					7																	21775267		1865	4108	5973	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.7450G>A	7.37:g.21775267G>A	ENSP00000475939:p.Val2484Ile	Somatic	0	65	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q9UJ82	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V2491I	ENST00000409508.3	37	c.7471		7	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711695	0.89112	.	.	ENSG00000105877	ENST00000328843	T	0.44881	0.91	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	.	.	.	0.58432	D	0.999996	D	0.89917	1.0	D	0.68192	0.956	T	0.65307	-0.6200	9	0.44086	T	0.13	.	18.3434	0.90313	0.0:0.0:1.0:0.0	.	2491	Q96DT5	DYH11_HUMAN	I	2491	ENSP00000330671:V2491I	ENSP00000330671:V2491I	V	+	1	0	DNAH11	21741792	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.454000	0.80714	2.498000	0.84270	0.655000	0.94253	GTT	-	superfamily_P-loop_NTPase		0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	G	NM_003777	-		21775267	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	1.000	A	A	21775267	G	A	21775267	3	1	240	1	0	0	0	0	1	0	0	0	4601	1145	40	1	7654	1	DNAH11	7	21775267	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	10261168	21775267	137363396	26	19435											
STEAP2	261729	genome.wustl.edu	37	chr7	89856742	89856742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcgctatggtccatgTtgcctacagcctctgcttac	7	13	2	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr7:89856742T>C	ENST00000287908.3	+	3	1343	c.950T>C	c.(949-951)gTt>gCt	p.V317A	STEAP2_ENST00000402625.2_Missense_Mutation_p.V317A|STEAP2_ENST00000394632.1_Missense_Mutation_p.V317A|STEAP2_ENST00000394621.2_Missense_Mutation_p.V317A|STEAP2_ENST00000394626.1_Missense_Mutation_p.V317A|STEAP2_ENST00000394629.2_Missense_Mutation_p.V317A|STEAP2_ENST00000394622.2_Missense_Mutation_p.V317A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	317	Ferric oxidoreductase.				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)					ATGGTCCATGTTGCCTACAGC	0.418																																																	0								ENSG00000157214						73	74	74					7																	89856742		2202	4298	6500	STEAP2	SO:0001583	missense	0			-	HGNC	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.950T>C	7.37:g.89856742T>C	ENSP00000287908:p.Val317Ala	Somatic	0	87	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	56	15.15	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP							pfam_Fe3_Rdtase_TM_dom	p.V317A	ENST00000287908.3	37	c.950	CCDS5615.1	7	.	.	.	.	.	.	.	.	.	.	T	7.682	0.689303	0.14973	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	6.04	6.04	0.98038	Flavoprotein transmembrane component (1);	0.057921	0.64402	D	0.000002	T	0.81898	0.4920	N	0.02142	-0.665	0.50632	D	0.99988	B;B;B;B	0.30851	0.137;0.297;0.03;0.03	B;B;B;B	0.41646	0.059;0.362;0.03;0.02	T	0.80301	-0.1440	9	.	.	.	-29.9211	16.5885	0.84745	0.0:0.0:0.0:1.0	.	317;317;317;317	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	A	317	ENSP00000287908:V317A;ENSP00000378123:V317A;ENSP00000378120:V317A;ENSP00000378128:V317A;ENSP00000378119:V317A;ENSP00000384191:V317A;ENSP00000378125:V317A	.	V	+	2	0	STEAP2	89694678	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.192000	0.58378	2.317000	0.78254	0.460000	0.39030	GTT	-	pfam_Fe3_Rdtase_TM_dom		0.418	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	protein_coding	OTTHUMT00000059662.4	T	NM_152999	-		89856742	1	no_errors	ENST00000287908	ensembl	human	known	74_37	missense	SNP	1.000	C	C	89856742	T	C	89856742	3	2	240	1	0	0	0	0	1	0	0	0	15285	1725	60	5	956	5	STEAP2	7	89856742	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	68081475	89856742	69281921	27	19436											
EPHB6	2051	genome.wustl.edu	37	chr7	142563919	142563919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtccacttcgaccctcGccagagaggcctgactgaga	12	13	0	4			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr7:142563919G>A	ENST00000392957.2	+	9	2094	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	EPHB6_ENST00000411471.2_Missense_Mutation_p.R159H|EPHB6_ENST00000442129.1_Missense_Mutation_p.R436H	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	436	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCGACCCTCGCCAGAGAGGC	0.607																																																	0								ENSG00000106123						45	40	42					7																	142563919		2203	4300	6503	EPHB6	SO:0001583	missense	0			-	HGNC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1307G>A	7.37:g.142563919G>A	ENSP00000376684:p.Arg436His	Somatic	0	87	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP							pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R436H	ENST00000392957.2	37	c.1307	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	35	5.538864	0.96474	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.58060	0.36;0.36;0.36	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000190	T	0.72771	0.3502	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75196	-0.3403	10	0.72032	D	0.01	.	18.344	0.90315	0.0:0.0:1.0:0.0	.	436	O15197	EPHB6_HUMAN	H	436;436;159	ENSP00000376684:R436H;ENSP00000410789:R436H;ENSP00000409061:R159H	ENSP00000376684:R436H	R	+	2	0	EPHB6	142274041	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.808000	0.99193	2.560000	0.86352	0.561000	0.74099	CGC	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.607	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	protein_coding	OTTHUMT00000341329.1	G		-		142563919	1	no_errors	ENST00000392957	ensembl	human	known	74_37	missense	SNP	1.000	A	A	142563919	G	A	142563919	3	1	240	1	0	0	0	0	1	0	0	0	5180	1087	38	1	1325	1	EPHB6	7	142563919	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	52707177	142563919	16574744	28	19437											
NOBOX	135935	genome.wustl.edu	37	chr7	144098176	144098176	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtctttttcctaatttgGcaggtcacttccgggggccc	11	12	2	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr7:144098176G>T	ENST00000467773.1	-	4	806	c.807C>A	c.(805-807)tgC>tgA	p.C269*	NOBOX_ENST00000223140.5_Nonsense_Mutation_p.C184*|NOBOX_ENST00000483238.1_Nonsense_Mutation_p.C269*	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	269					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCCTAATTTGGCAGGTCACTT	0.572																																																	0								ENSG00000106410						75	73	74					7																	144098176		1846	4086	5932	NOBOX	SO:0001587	stop_gained	0			-	HGNC			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.807C>A	7.37:g.144098176G>T	ENSP00000419457:p.Cys269*	Somatic	0	106	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NCD3|A8MZN5	Nonsense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.C269*	ENST00000467773.1	37	c.807		7	.	.	.	.	.	.	.	.	.	.	G	24.5	4.532968	0.85812	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	.	.	.	5.13	2.07	0.26955	.	0.435143	0.22871	N	0.054626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-24.8929	3.5859	0.07970	0.2121:0.0:0.577:0.2109	.	.	.	.	X	269;269;184;58	.	ENSP00000223140:C184X	C	-	3	2	NOBOX	143729109	0.988000	0.35896	0.941000	0.38009	0.475000	0.33008	0.448000	0.21726	0.722000	0.32252	0.555000	0.69702	TGC	-	NULL		0.572	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	protein_coding	OTTHUMT00000350095.1	G	XM_001134420	-		144098176	-1	no_errors	ENST00000467773	ensembl	human	known	74_37	nonsense	SNP	0.790	T	T	144098176	G	T	144098176	4	4	240	1	0	0	0	0	0	1	0	0	10514	1195	42	3	1200	3	NOBOX	7	144098176	Nonsense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	1534257	144098176	15040487	29	19438											
C7orf29	113763	genome.wustl.edu	37	chr7	150027518	150027518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccgcgaggcgagtgcgGcacaggcctctctgagccag	16	13	1	1	rs369443062		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr7:150027518G>A	ENST00000343855.4	+	1	581	c.25G>A	c.(25-27)Gca>Aca	p.A9T	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	9																	GGCGAGTGCGGCACAGGCCTC	0.627																																																	0								ENSG00000188707	G	,,THR/ALA	0,4406		0,0,2203	69	75	73		,,25	1.2	0	7		73	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	LRRC61,C7orf29	NM_001142928.1,NM_023942.2,NM_138434.2	,,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,benign	,,9/237	150027518	1,13005	2203	4300	6503	ZBED6CL	SO:0001583	missense	0			-	HGNC	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.25G>A	7.37:g.150027518G>A	ENSP00000343242:p.Ala9Thr	Somatic	0	77	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP							NULL	p.A9T	ENST00000343855.4	37	c.25	CCDS5900.1	7	.	.	.	.	.	.	.	.	.	.	G	1.159	-0.644303	0.03531	0.0	1.16E-4	ENSG00000188707	ENST00000343855	.	.	.	4.25	1.18	0.20946	.	35.889500	0.02416	U	0.082137	T	0.30166	0.0756	N	0.24115	0.695	0.09310	N	1	B	0.30281	0.275	B	0.27715	0.082	T	0.16247	-1.0409	9	0.27082	T	0.32	.	7.6652	0.28426	0.0965:0.502:0.4015:0.0	.	9	Q96FA7	CG029_HUMAN	T	9	.	ENSP00000343242:A9T	A	+	1	0	C7orf29	149658451	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.289000	0.08365	-0.066000	0.12998	0.558000	0.71614	GCA	-	NULL		0.627	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6CL	protein_coding	OTTHUMT00000350702.1	G	NM_138434	-		150027518	1	no_errors	ENST00000343855	ensembl	human	known	74_37	missense	SNP	0.000	A	A	150027518	G	A	150027518	3	1	240	1	0	0	0	0	1	0	0	0	2387	1203	42	2	27	2	C7orf29	7	150027518	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	5929342	150027518	9111145	30	19439											
MTMR7	9108	genome.wustl.edu	37	chr8	17230662	17230662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcaggtgaattttccaCgaatatgacatgggtagccg	13	7	1	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr8:17230662C>T	ENST00000180173.5	-	2	146	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	MTMR7_ENST00000521857.1_Missense_Mutation_p.V38M	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	38					inositol phosphate dephosphorylation (GO:0046855)|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)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAATTTTCCACGAATATGACA	0.403																																																	0								ENSG00000003987						86	80	82					8																	17230662		2203	4300	6503	MTMR7	SO:0001583	missense	0			-	HGNC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.112G>A	8.37:g.17230662C>T	ENSP00000180173:p.Val38Met	Somatic	0	106	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	77	20.41	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP							pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.V38M	ENST00000180173.5	37	c.112	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677262	0.88445	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.83250	-1.7;-1.7	5.46	5.46	0.80206	.	0.057935	0.64402	D	0.000002	D	0.86456	0.5937	M	0.84948	2.725	0.80722	D	1	P	0.48407	0.91	B	0.42916	0.402	D	0.87083	0.2167	10	0.39692	T	0.17	.	19.6884	0.95987	0.0:1.0:0.0:0.0	.	38	Q9Y216	MTMR7_HUMAN	M	38	ENSP00000180173:V38M;ENSP00000429733:V38M	ENSP00000180173:V38M	V	-	1	0	MTMR7	17275033	1.000000	0.71417	0.999000	0.59377	0.679000	0.39708	7.159000	0.77483	2.739000	0.93911	0.563000	0.77884	GTG	-	NULL		0.403	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	protein_coding	OTTHUMT00000375311.1	C	NM_004686	-		17230662	-1	no_errors	ENST00000180173	ensembl	human	known	74_37	missense	SNP	1.000	T	T	17230662	C	T	17230662	3	4	240	1	0	0	0	0	1	0	0	0	9950	536	19	1	1922	1	MTMR7	8	17230662	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09		17230662	129133360	31	19440											
TM7SF4	81501	genome.wustl.edu	37	chr8	105367322	105367322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcgtggagaggaagcGcatccaatatctgcatgcaa	11	12	1	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr8:105367322G>A	ENST00000297581.2	+	3	1296	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_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)											GAGAGGAAGCGCATCCAATAT	0.443																																																	0								ENSG00000164935						121	120	120					8																	105367322		2203	4300	6503	DCSTAMP	SO:0001583	missense	0			-	HGNC	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.1247G>A	8.37:g.105367322G>A	ENSP00000297581:p.Arg416His	Somatic	0	54	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP							pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.R416H	ENST00000297581.2	37	c.1247	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649229	0.67358	.	.	ENSG00000164935	ENST00000297581	T	0.78364	-1.17	5.44	5.44	0.79542	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89834	0.3998	10	0.87932	D	0	-17.4	17.7975	0.88577	0.0:0.0:1.0:0.0	.	416	Q9H295	TM7S4_HUMAN	H	416	ENSP00000297581:R416H	ENSP00000297581:R416H	R	+	2	0	TM7SF4	105436498	0.997000	0.39634	0.132000	0.22025	0.185000	0.23345	7.776000	0.85560	2.700000	0.92200	0.655000	0.94253	CGC	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	protein_coding	OTTHUMT00000380810.1	G	NM_030788	-		105367322	1	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	SNP	0.903	A	A	105367322	G	A	105367322	3	1	240	1	0	0	0	0	1	0	0	0	15983	1087	38	1	1253	1	TM7SF4	8	105367322	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	88136660	105367322	40996700	32	19441											
HAS2	3037	genome.wustl.edu	37	chr8	122629430	122629430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaggctgggtcaagcataGtgtctgaatcacaaacctgc	11	9	3	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr8:122629430G>T	ENST00000303924.4	-	3	1181	c.644C>A	c.(643-645)aCt>aAt	p.T215N		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	215					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCAAGCATAGTGTCTGAATC	0.398																																																	0								ENSG00000170961						120	109	113					8																	122629430		2203	4300	6503	HAS2	SO:0001583	missense	0			-	HGNC	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.644C>A	8.37:g.122629430G>T	ENSP00000306991:p.Thr215Asn	Somatic	0	57	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q32MM3	Missense_Mutation	SNP							pfam_Chitin_synth_fng	p.T215N	ENST00000303924.4	37	c.644	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888336	0.91814	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.60299	0.2	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.87324	0.2320	10	0.87932	D	0	-16.4652	19.3687	0.94475	0.0:0.0:1.0:0.0	.	215	Q92819	HAS2_HUMAN	N	215	ENSP00000306991:T215N	ENSP00000306991:T215N	T	-	2	0	HAS2	122698611	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.471000	0.97696	2.573000	0.86826	0.561000	0.74099	ACT	-	pfam_Chitin_synth_fng		0.398	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	protein_coding	OTTHUMT00000381150.2	G	NM_005328	-		122629430	-1	no_errors	ENST00000303924	ensembl	human	known	74_37	missense	SNP	1.000	T	T	122629430	G	T	122629430	3	4	240	1	0	0	0	0	1	0	0	0	6964	1029	36	3	1022	3	HAS2	8	122629430	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	17262108	122629430	23734592	33	19442											
ADCK5	203054	genome.wustl.edu	37	chr8	145616475	145616475	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgtggctgtgaagGtatatgggggctgccttgtt	16	8	0	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr8:145616475G>T	ENST00000308860.6	+	6	728		c.e6+1		MIR939_ENST00000401314.1_RNA|ADCK5_ENST00000526231.2_Splice_Site|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCTGTGAAGGTATATGGGGG	0.627																																																	0								ENSG00000173137						58	59	58					8																	145616475		2203	4300	6503	ADCK5	SO:0001630	splice_region_variant	0			-	HGNC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.684+1G>T	8.37:g.145616475G>T		Somatic	0	120	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	SNP							-	e6+1	ENST00000308860.6	37	c.684+1	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075195	0.36662	.	.	ENSG00000173137	ENST00000308860	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.196	0.65672	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCK5	145587283	1.000000	0.71417	0.997000	0.53966	0.146000	0.21551	8.853000	0.92222	2.419000	0.82065	0.462000	0.41574	.	-	-		0.627	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	protein_coding	OTTHUMT00000382556.2	G	NM_174922	-	Intron	145616475	1	no_errors	ENST00000308860	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	145616475	G	T	145616475	5	4	240	1	0	0	0	0	0	0	1	0	291	1275	44	3	707	3	ADCK5	8	145616475	Splice_Site	SNP	G	TCGA-X9-A971-01A-11D-A387-09	22987045	145616475	747547	34	19443											
C9orf79	286234	genome.wustl.edu	37	chr9	90500171	90500171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcccctggcctcctctccaCctccacccgactccagcctg	6	23	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr9:90500171C>A	ENST00000325643.5	+	4	835	c.769C>A	c.(769-771)Cct>Act	p.P257T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	257	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCCTCTCCACCTCCACCCGA	0.622																																																	0								ENSG00000177992						68	73	71					9																	90500171		2203	4300	6503	SPATA31E1	SO:0001583	missense	0			-	HGNC	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.769C>A	9.37:g.90500171C>A	ENSP00000322640:p.Pro257Thr	Somatic	0	70	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP							NULL	p.P257T	ENST00000325643.5	37	c.769	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	.	0.397	-0.920279	0.02396	.	.	ENSG00000177992	ENST00000325643	T	0.05382	3.45	1.26	-1.17	0.09648	.	.	.	.	.	T	0.04272	0.0118	L	0.33485	1.01	0.09310	N	1	B	0.23442	0.085	B	0.23574	0.047	T	0.44081	-0.9351	9	0.32370	T	0.25	.	1.7714	0.03012	0.3261:0.43:0.0:0.2439	.	257	Q6ZUB1	CI079_HUMAN	T	257	ENSP00000322640:P257T	ENSP00000322640:P257T	P	+	1	0	C9orf79	89689991	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.369000	0.07533	-0.382000	0.07870	0.305000	0.20034	CCT	-	NULL		0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	protein_coding	OTTHUMT00000052954.2	C	NM_178828	-		90500171	1	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	SNP	0.000	A	A	90500171	C	A	90500171	3	1	240	1	0	0	0	0	1	0	0	0	2499	507	18	3	783	3	C9orf79	9	90500171	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09		90500171	50713260	35	19444											
TNC	3371	genome.wustl.edu	37	chr9	117808688	117808688	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgtttatttacagtaCctgttgttgctatagcactg	7	9	1	0	rs111797890		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr9:117808688C>G	ENST00000350763.4	-	17	5537		c.e17+1		TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Splice_Site|TNC_ENST00000340094.3_Splice_Site|TNC_ENST00000341037.4_Splice_Site|TNC_ENST00000535648.1_Splice_Site|TNC_ENST00000542877.1_Splice_Site|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C						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						ATTTACAGTACCTGTTGTTGC	0.458																																																	0								ENSG00000041982						229	217	221					9																	117808688		2203	4300	6503	TNC	SO:0001630	splice_region_variant	0			-	HGNC		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.5125+1G>C	9.37:g.117808688C>G		Somatic	0	100	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Splice_Site	SNP							-	e16+1	ENST00000350763.4	37	c.5125+1	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680337	0.88542	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877;ENST00000544972	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0674	0.97707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNC	116848509	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.409000	0.80053	2.735000	0.93741	0.563000	0.77884	.	-	-		0.458	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160	rs111797890	Intron	117808688	-1	no_errors	ENST00000350763	ensembl	human	known	74_37	splice_site	SNP	1.000	G	G	117808688	C	G	117808688	5	3	240	1	0	0	0	0	0	0	1	0	16277	521	18	4	1527	4	TNC	9	117808688	Splice_Site	SNP	C	TCGA-X9-A971-01A-11D-A387-09	27308517	117808688	23404743	36	19445											
ZEB1	6935	genome.wustl.edu	37	chr10	31816010	31816012	+	In_Frame_Del	DEL	GAG	GAG	-													aaccacaaggggatgaggaaGaggaggaggaggaggaagaa					rs369270839		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr10:31816010_31816012delGAG	ENST00000320985.10	+	9	3303_3305	c.3193_3195delGAG	c.(3193-3195)gagdel	p.E1071del	ZEB1_ENST00000361642.5_In_Frame_Del_p.E1072del|ZEB1_ENST00000446923.2_In_Frame_Del_p.E1055del|ZEB1_ENST00000560721.2_In_Frame_Del_p.E1051del|ZEB1_ENST00000542815.3_In_Frame_Del_p.E1004del			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1071	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ggatgaggaagaggaggaggagg	0.453																																					Ovarian(40;423 959 14296 36701 49589)												0								ENSG00000148516		,,,,,	7,56,4199		0,0,7,6,44,2074					,,,,,	-8.9	0.2			98	6,89,8153		0,0,6,10,69,4039	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	ZEB1	NM_030751.5,NM_001174096.1,NM_001174095.1,NM_001174094.1,NM_001174093.1,NM_001128128.2	,,,,,	0,0,13,16,113,6113	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1518,1.4782,1.263	,,,,,	,,,,,		13,145,12352				ZEB1	SO:0001651	inframe_deletion	0				HGNC	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3193_3195delGAG	10.37:g.31816019_31816021delGAG	ENSP00000319248:p.Glu1071del	Somatic	0	35	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	In_Frame_Del	DEL							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.E1069in_frame_del	ENST00000320985.10	37	c.3196_3198	CCDS7169.1	10																																																																																			-	NULL		0.453	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	protein_coding	OTTHUMT00000419083.2	GAG	NM_030751			31816012	1	no_errors	ENST00000361642	ensembl	human	known	74_37	in_frame_del	DEL	0.998:1.000:1.000	-	-	31816012	GAG	-	31816010	7	5	240	1	0	1	0	1	0	0	0	0	17630	943	33	0	3241	0	ZEB1	10	31816010	In_Frame_Del	DEL	GAG	TCGA-X9-A971-01A-11D-A387-09		31816010	103718737	37	19446											
ANXA8L2	728113	genome.wustl.edu	37	chr10	47754779	47754779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaccaagaaccagctgcGggagataatgaaggcgtatg	14	8	0	3			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr10:47754779G>A	ENST00000374277.5	+	5	508	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ANXA8L2_ENST00000449464.2_Missense_Mutation_p.R129Q|ANXA8L2_ENST00000340243.6_Intron|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R67Q|AL603965.1_ENST00000335083.5_Intron	NM_001630.2	NP_001621.2														endometrium(1)|pancreas(1)	2						AACCAGCTGCGGGAGATAATG	0.567																																																	0								ENSG00000186807						6	6	6					10																	47754779		1932	4036	5968	ANXA8L2	SO:0001583	missense	0			-	HGNC																												ENST00000374277.5:c.386G>A	10.37:g.47754779G>A	ENSP00000363395:p.Arg129Gln	Somatic	0	82	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	8	57.89		Missense_Mutation	SNP							pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII	p.R129Q	ENST00000374277.5	37	c.386	CCDS7216.1	10	.	.	.	.	.	.	.	.	.	.	.	6.665	0.491230	0.12702	.	.	ENSG00000186807	ENST00000374277;ENST00000449464;ENST00000538825	T;T;T	0.03124	4.04;4.04;4.04	2.12	-1.4	0.08968	Annexin repeat, conserved site (1);	1.266630	0.05483	N	0.555198	T	0.02767	0.0083	N	0.13299	0.325	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47736	-0.9094	10	0.39692	T	0.17	.	7.4882	0.27445	0.3637:0.0:0.6363:0.0	.	129	Q5VT79	AXA82_HUMAN	Q	129;129;67	ENSP00000363395:R129Q;ENSP00000407079:R129Q;ENSP00000440742:R67Q	ENSP00000363395:R129Q	R	+	2	0	ANXA8L2	47224785	0.000000	0.05858	0.683000	0.30040	0.553000	0.35397	-0.650000	0.05378	-0.760000	0.04677	-0.974000	0.02594	CGG	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinIII		0.567	ANXA8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA8L2	protein_coding	OTTHUMT00000047866.1	G		-		47754779	1	no_errors	ENST00000374277	ensembl	human	known	74_37	missense	SNP	0.524	A	A	47754779	G	A	47754779	3	1	240	1	0	0	0	0	1	0	0	0	724	1116	39	1	404	1	ANXA8L2	10	47754779	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	15938769	47754779	87779968	38	19447											
CDHR1	92211	genome.wustl.edu	37	chr10	85968029	85968029	+	Frame_Shift_Del	DEL	G	G	-													accacccgccaacattctatGgagagagcggaccccaaaac							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr10:85968029delG	ENST00000372117.3	+	11	1166	c.1063delG	c.(1063-1065)ggafs	p.G355fs	CDHR1_ENST00000440770.2_Frame_Shift_Del_p.G114fs|CDHR1_ENST00000332904.3_Frame_Shift_Del_p.G355fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	355					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AACATTCTATGGAGAGAGCGG	0.592																																																	0								ENSG00000148600						72	71	71					10																	85968029		2203	4300	6503	CDHR1	SO:0001589	frameshift_variant	0				HGNC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1063delG	10.37:g.85968029delG	ENSP00000361189:p.Gly355fs	Somatic	0	55	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q69YZ8|Q8IXY5	Frame_Shift_Del	DEL							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G355fs	ENST00000372117.3	37	c.1063	CCDS7372.1	10																																																																																			-	superfamily_Cadherin-like		0.592	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	protein_coding	OTTHUMT00000049111.1	G	NM_033100			85968029	1	no_errors	ENST00000372117	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	85968029	G	-	85968029	7	5	240	1	0	1	0	1	0	0	0	0	3120	1349	47	0	1105	0	CDHR1	10	85968029	Frame_Shift_Del	DEL	G	TCGA-X9-A971-01A-11D-A387-09	38213250	85968029	49566718	39	19448											
COL17A1	1308	genome.wustl.edu	37	chr10	105807844	105807844	+	Frame_Shift_Del	DEL	C	C	-													aacctcttgggccttggtgtCcgtctgggccagcaggacct							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr10:105807844delC	ENST00000353479.5	-	30	2536	c.2246delG	c.(2245-2247)ggafs	p.G749fs	COL17A1_ENST00000369733.3_Frame_Shift_Del_p.G749fs|MIR936_ENST00000401264.1_RNA	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	749	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCTTGGTGTCCGTCTGGGCC	0.577																																																	0								ENSG00000065618						241	220	227					10																	105807844		2203	4300	6503	COL17A1	SO:0001589	frameshift_variant	0				HGNC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2246delG	10.37:g.105807844delC	ENSP00000340937:p.Gly749fs	Somatic	0	62	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL							pfam_Collagen	p.G749fs	ENST00000353479.5	37	c.2246	CCDS7554.1	10																																																																																			-	pfam_Collagen		0.577	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494			105807844	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	105807844	C	-	105807844	7	5	240	1	0	1	0	1	0	0	0	0	3676	855	30	0	2355	0	COL17A1	10	105807844	Frame_Shift_Del	DEL	C	TCGA-X9-A971-01A-11D-A387-09	19839815	105807844	29726903	40	19449											
DAGLA	747	genome.wustl.edu	37	chr11	61511829	61511829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcagctcctcgggtgaGctcatggacctgacgcccac	11	17	2	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr11:61511829G>T	ENST00000257215.5	+	20	3113	c.2997G>T	c.(2995-2997)gaG>gaT	p.E999D	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	999					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)		CCTCGGGTGAGCTCATGGACC	0.682																																																	0								ENSG00000134780						50	55	53					11																	61511829		2202	4299	6501	DAGLA	SO:0001583	missense	0			-	HGNC	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.2997G>T	11.37:g.61511829G>T	ENSP00000257215:p.Glu999Asp	Somatic	0	45	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	A7E233|Q6WQJ0	Missense_Mutation	SNP							pfam_Lipase_3	p.E999D	ENST00000257215.5	37	c.2997	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834480	0.71373	.	.	ENSG00000134780	ENST00000257215	T	0.37411	1.2	4.03	2.13	0.27403	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.27053	0.805	0.45822	D	0.998698	D	0.58970	0.984	D	0.68192	0.956	T	0.20638	-1.0269	10	0.66056	D	0.02	-24.4313	8.854	0.35217	0.3262:0.0:0.6738:0.0	.	999	Q9Y4D2	DGLA_HUMAN	D	999	ENSP00000257215:E999D	ENSP00000257215:E999D	E	+	3	2	DAGLA	61268405	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	2.160000	0.42348	0.310000	0.22990	0.462000	0.41574	GAG	-	NULL		0.682	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	G	NM_006133	-		61511829	1	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	SNP	1.000	T	T	61511829	G	T	61511829	3	4	240	1	0	0	0	0	1	0	0	0	4228	962	34	3	3071	3	DAGLA	11	61511829	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09		61511829	73494687	41	19450											
SPTBN2	6712	genome.wustl.edu	37	chr11	66475241	66475241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtctcaatggcttcgtGcttccgtactgctgcctcga	10	14	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr11:66475241G>T	ENST00000533211.1	-	13	1730	c.1399C>A	c.(1399-1401)Cac>Aac	p.H467N	SPTBN2_ENST00000529997.1_Missense_Mutation_p.H467N|SPTBN2_ENST00000309996.2_Missense_Mutation_p.H467N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	467					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ATGGCTTCGTGCTTCCGTACT	0.652																																																	0								ENSG00000173898						57	50	53					11																	66475241		2200	4295	6495	SPTBN2	SO:0001583	missense	0			-	HGNC	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1399C>A	11.37:g.66475241G>T	ENSP00000432568:p.His467Asn	Somatic	0	74	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	O14872|O14873	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H467N	ENST00000533211.1	37	c.1399	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900800	0.92035	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.58652	0.32;0.32;0.32	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.81522	0.4840	H	0.94886	3.595	0.80722	D	1	D	0.60160	0.987	D	0.67231	0.95	D	0.87465	0.2410	10	0.87932	D	0	.	15.8632	0.79040	0.0:0.0:1.0:0.0	.	467	O15020	SPTN2_HUMAN	N	467	ENSP00000432568:H467N;ENSP00000311489:H467N;ENSP00000433593:H467N	ENSP00000311489:H467N	H	-	1	0	SPTBN2	66231817	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.510000	0.98004	2.258000	0.74832	0.462000	0.41574	CAC	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.652	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	protein_coding	OTTHUMT00000393892.2	G	NM_006946	-		66475241	-1	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	SNP	1.000	T	T	66475241	G	T	66475241	3	4	240	1	0	0	0	0	1	0	0	0	15127	1319	46	3	5877	3	SPTBN2	11	66475241	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	4963412	66475241	68531275	42	19451											
KCNA1	3736	genome.wustl.edu	37	chr12	5020795	5020795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagtacttcttcgaccGcaaccggcccagcttcgacg	10	15	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr12:5020795G>A	ENST00000382545.3	+	2	1358	c.251G>A	c.(250-252)cGc>cAc	p.R84H	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)	84					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)			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)	TTCTTCGACCGCAACCGGCCC	0.627																																																	0								ENSG00000111262						63	65	65					12																	5020795		2203	4298	6501	KCNA1	SO:0001583	missense	0			-	HGNC	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.251G>A	12.37:g.5020795G>A	ENSP00000371985:p.Arg84His	Somatic	0	212	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	97	16.95	A6NM83|Q3MIQ9	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.R84H	ENST00000382545.3	37	c.251	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578422	0.86645	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.90261	-2.64	4.34	4.34	0.51931	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	.	16.3898	0.83531	0.0:0.0:1.0:0.0	.	84	Q09470	KCNA1_HUMAN	H	84	ENSP00000371985:R84H	ENSP00000228858:R84H	R	+	2	0	KCNA1	4891056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.531000	0.98054	2.410000	0.81850	0.650000	0.86243	CGC	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	protein_coding	OTTHUMT00000103343.2	G	NM_000217	-		5020795	1	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	SNP	1.000	A	A	5020795	G	A	5020795	3	1	240	1	0	0	0	0	1	0	0	0	8003	1087	38	1	253	1	KCNA1	12	5020795	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09		5020795	128831100	43	19452											
LRRK2	120892	genome.wustl.edu	37	chr12	40714914	40714914	+	Frame_Shift_Del	DEL	T	T	-													atccgactatatgaaatgccTtattttccaatgggattttg							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr12:40714914delT	ENST00000298910.7	+	35	5152	c.5094delT	c.(5092-5094)cctfs	p.P1698fs		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1698					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAATGCCTTATTTTCCAA	0.378																																																	0								ENSG00000188906						168	162	164					12																	40714914		2203	4300	6503	LRRK2	SO:0001589	frameshift_variant	0				HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5094delT	12.37:g.40714914delT	ENSP00000298910:p.Pro1698fs	Somatic	0	113	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	33	49.23	A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.Y1699fs	ENST00000298910.7	37	c.5094	CCDS31774.1	12																																																																																			-	NULL		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	T	XM_058513			40714914	1	no_errors	ENST00000298910	ensembl	human	known	74_37	frame_shift_del	DEL	0.822	-	-	40714914	T	-	40714914	7	5	240	1	0	1	0	1	0	0	0	0	9035	1596	56	0	5232	0	LRRK2	12	40714914	Frame_Shift_Del	DEL	T	TCGA-X9-A971-01A-11D-A387-09	35694119	40714914	93136981	44	19453	501	2									
LRRK2	120892	genome.wustl.edu	37	chr12	40714915	40714915	+	Missense_Mutation	SNP	T	T	A													tccgactatatgaaatgcctTattttccaatgggattttgg							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr12:40714915T>A	ENST00000298910.7	+	35	5153	c.5095T>A	c.(5095-5097)Tat>Aat	p.Y1699N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1699			Y -> C (in PARK8; shows no progressive reduction in neurite length and branching; dbSNP:rs35801418). {ECO:0000269|PubMed:15541308, ECO:0000269|PubMed:15541309, ECO:0000269|PubMed:16172858, ECO:0000269|PubMed:16272164}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAAATGCCTTATTTTCCAAT	0.373																																																	0								ENSG00000188906						166	160	162					12																	40714915		2203	4300	6503	LRRK2	SO:0001583	missense	0			-	HGNC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5095T>A	12.37:g.40714915T>A	ENSP00000298910:p.Tyr1699Asn	Somatic	0	114	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	30	53.85	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.Y1699N	ENST00000298910.7	37	c.5095	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673183	0.88445	.	.	ENSG00000188906	ENST00000298910	T	0.76968	-1.06	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87470	0.6185	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.983	D	0.88617	0.3160	10	0.72032	D	0.01	.	16.1562	0.81670	0.0:0.0:0.0:1.0	.	1699;1699	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1699	ENSP00000298910:Y1699N	ENSP00000298910:Y1699N	Y	+	1	0	LRRK2	39001182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.431000	0.80335	2.210000	0.71456	0.533000	0.62120	TAT	-	NULL		0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	T	XM_058513	-		40714915	1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	SNP	1.000	A	A	40714915	T	A	40714915	3	1	240	1	0	0	0	0	1	0	0	0	9035	1754	61	5	5233	5	LRRK2	12	40714915	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	1	40714915	93136980	45	19454	501	2									
ANKLE2	23141	genome.wustl.edu	37	chr12	133313590	133313590	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgtctggtctggggaccaCagctccccgatgactggaga	14	13	2	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr12:133313590C>A	ENST00000357997.5	-	8	1571	c.1482G>T	c.(1480-1482)ctG>ctT	p.L494L	ANKLE2_ENST00000542374.1_5'Flank|ANKLE2_ENST00000337516.5_Silent_p.L494L|ANKLE2_ENST00000539605.1_Silent_p.L432L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	494					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGGGGACCACAGCTCCCCGA	0.652																																																	0								ENSG00000176915						56	66	63					12																	133313590		1964	4153	6117	ANKLE2	SO:0001819	synonymous_variant	0			-	HGNC	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1482G>T	12.37:g.133313590C>A		Somatic	0	43	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP							pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.L494	ENST00000357997.5	37	c.1482	CCDS41869.1	12																																																																																			-	NULL		0.652	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	protein_coding	OTTHUMT00000397712.1	C		-		133313590	-1	no_errors	ENST00000357997	ensembl	human	known	74_37	silent	SNP	0.999	A	A	133313590	C	A	133313590	2	1	240	1	0	0	0	0	0	0	0	1	633	465	17	3		3	ANKLE2	12	133313590	Silent	SNP	C	TCGA-X9-A971-01A-11D-A387-09	92598675	133313590	538305	46	19455											
PCDH17	27253	genome.wustl.edu	37	chr13	58299074	58299074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagcccaaccaaggcGtgcatcgagccttgcacctc	9	16	1	0	rs534412507		TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr13:58299074G>A	ENST00000377918.3	+	4	3152	c.3126G>A	c.(3124-3126)gcG>gcA	p.A1042A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1042					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAACCAAGGCGTGCATCGAGC	0.532													g|||	1	0.000199681	0	0	5008	,	,		18288	0.001		0	False		,,,				2504	0				Melanoma(72;952 1291 1619 12849 33676)												0								ENSG00000118946						85	84	84					13																	58299074		2203	4300	6503	PCDH17	SO:0001819	synonymous_variant	0			-	HGNC	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3126G>A	13.37:g.58299074G>A		Somatic	0	60	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1042	ENST00000377918.3	37	c.3126	CCDS31986.1	13																																																																																			-	NULL		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	protein_coding	OTTHUMT00000045139.1	G	NM_001040429	-		58299074	1	no_errors	ENST00000377918	ensembl	human	known	74_37	silent	SNP	0.971	A	A	58299074	G	A	58299074	2	1	240	1	0	0	0	0	0	0	0	1	11514	1132	40	1		1	PCDH17	13	58299074	Silent	SNP	G	TCGA-X9-A971-01A-11D-A387-09		58299074	56870804	47	19456											
PCDH20	64881	genome.wustl.edu	37	chr13	61986224	61986224	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgacccatccatttcGtccagcgtcagcatctgtta	10	13	2	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr13:61986224G>A	ENST00000409186.1	-	5	4113	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.R670*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	670	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCCATTTCGTCCAGCGTCA	0.448																																																	0								ENSG00000197991						93	91	91					13																	61986224		2203	4300	6503	PCDH20	SO:0001587	stop_gained	0			-	HGNC	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2008C>T	13.37:g.61986224G>A	ENSP00000386653:p.Arg670*	Somatic	0	33	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Nonsense_Mutation	SNP							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R670*	ENST00000409186.1	37	c.2008	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	G	39	7.657066	0.98415	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	.	.	.	5.94	3.09	0.35607	.	0.527931	0.17356	N	0.177208	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.8811	0.70534	0.0:0.0:0.6245:0.3755	.	.	.	.	X	670;670;416	.	ENSP00000351500:R416X	R	-	1	2	PCDH20	60884225	0.035000	0.19736	0.206000	0.23566	0.717000	0.41224	1.392000	0.34486	0.316000	0.23135	0.557000	0.71058	CGA	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	protein_coding	OTTHUMT00000333054.2	G	NM_022843	-		61986224	-1	no_errors	ENST00000409186	ensembl	human	known	74_37	nonsense	SNP	0.907	A	A	61986224	G	A	61986224	4	1	240	1	0	0	0	0	0	1	0	0	11517	1153	40	1	851	1	PCDH20	13	61986224	Nonsense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	3687150	61986224	53183654	48	19457											
PARP2	10038	genome.wustl.edu	37	chr14	20822373	20822373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatggaagaaatgatgatgGaaatgaagtataataccaag	10	4	0	4			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr14:20822373G>A	ENST00000250416.5	+	8	796	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	PARP2_ENST00000429687.3_Missense_Mutation_p.E244K|PARP2_ENST00000527915.1_Missense_Mutation_p.E257K	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	257	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				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)			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)		AATGATGATGGAAATGAAGTA	0.383								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0								ENSG00000129484						118	114	116					14																	20822373		1878	4094	5972	PARP2	SO:0001583	missense	0			-	HGNC	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.769G>A	14.37:g.20822373G>A	ENSP00000250416:p.Glu257Lys	Somatic	0	76	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	68	21.84	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP							pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E257K	ENST00000250416.5	37	c.769	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653401	0.88056	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.15487	2.42;2.42;2.42	5.29	4.36	0.52297	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.89214	3.015	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.78314	0.991;0.925;0.955	T	0.47873	-0.9083	10	0.41790	T	0.15	-23.7972	14.3747	0.66865	0.0:0.0:0.8518:0.1482	.	170;244;257	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	K	244;257;257	ENSP00000392972:E244K;ENSP00000250416:E257K;ENSP00000432283:E257K	ENSP00000250416:E257K	E	+	1	0	PARP2	19892213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.115000	0.71566	2.752000	0.94435	0.585000	0.79938	GAA	-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom		0.383	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	protein_coding	OTTHUMT00000387847.2	G		-		20822373	1	no_errors	ENST00000250416	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20822373	G	A	20822373	3	1	240	1	0	0	0	0	1	0	0	0	11463	1175	41	2	799	2	PARP2	14	20822373	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09		20822373	86527167	49	19458											
SLC35F4	341880	genome.wustl.edu	37	chr14	58030878	58030878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggtatagacactgtcCcattggctctgcctctgccc	9	15	2	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr14:58030878C>T	ENST00000339762.6	-	8	1540	c.1541G>A	c.(1540-1542)gGg>gAg	p.G514E	SLC35F4_ENST00000554729.1_Missense_Mutation_p.G355E|SLC35F4_ENST00000556826.1_Missense_Mutation_p.G478E			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	514					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACACTGTCCCATTGGCTCT	0.453																																																	0								ENSG00000151812						79	78	78					14																	58030878		1987	4173	6160	SLC35F4	SO:0001583	missense	0			-	HGNC			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1541G>A	14.37:g.58030878C>T	ENSP00000342518:p.Gly514Glu	Somatic	0	54	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6NDQ3	Missense_Mutation	SNP							pfam_DMT,pfam_SLC35_F1/F2/F6	p.G514E	ENST00000339762.6	37	c.1541		14	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730571	0.89390	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.55413	0.66;0.52;0.87	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71813	-0.4479	10	0.87932	D	0	-11.8453	18.9565	0.92661	0.0:1.0:0.0:0.0	.	514	A4IF30	S35F4_HUMAN	E	478;514;355	ENSP00000452086:G478E;ENSP00000342518:G514E;ENSP00000451990:G355E	ENSP00000342518:G514E	G	-	2	0	SLC35F4	57100631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.532000	0.85374	0.563000	0.77884	GGG	-	NULL		0.453	SLC35F4-201	KNOWN	basic	protein_coding	SLC35F4	protein_coding		C	XM_292260	-		58030878	-1	no_errors	ENST00000339762	ensembl	human	known	74_37	missense	SNP	1.000	T	T	58030878	C	T	58030878	3	4	240	1	0	0	0	0	1	0	0	0	14599	623	22	2	28	2	SLC35F4	14	58030878	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	37208505	58030878	49318662	50	19459											
HDC	3067	genome.wustl.edu	37	chr15	50534531	50534531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcaggaaagctggggaCgctgtagaatttgatgagtt	14	5	1	3			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr15:50534531C>T	ENST00000267845.3	-	12	2317	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.V606I	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.V639F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AAGCTGGGGACGCTGTAGAAT	0.507																																					GBM(95;1627 1936 6910 9570)												1	Substitution - Missense(1)	lung(1)						ENSG00000140287						81	82	82					15																	50534531		2196	4295	6491	HDC	SO:0001583	missense	0			-	HGNC		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1915G>A	15.37:g.50534531C>T	ENSP00000267845:p.Val639Ile	Somatic	0	117	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63		Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.V639I	ENST00000267845.3	37	c.1915	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533889	0.85812	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.17370	2.67;2.28	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000088	T	0.32466	0.0830	L	0.27053	0.805	0.50171	D	0.999853	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.06661	-1.0814	10	0.87932	D	0	-40.8107	19.6299	0.95698	0.0:1.0:0.0:0.0	.	606;639	B7ZM01;P19113	.;DCHS_HUMAN	I	639;606	ENSP00000267845:V639I;ENSP00000440252:V606I	ENSP00000267845:V639I	V	-	1	0	HDC	48321823	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.949000	0.75971	2.639000	0.89480	0.655000	0.94253	GTC	-	NULL		0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	protein_coding	OTTHUMT00000254540.1	C		-		50534531	-1	no_errors	ENST00000267845	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50534531	C	T	50534531	3	4	240	1	0	0	0	0	1	0	0	0	7017	536	19	1	77	1	HDC	15	50534531	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09		50534531	51996861	51	19460											
MYH11	4629	genome.wustl.edu	37	chr16	15850274	15850274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaacttggggtggctgCcctgctccgtgcacagcttc	13	13	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr16:15850274C>T	ENST00000300036.5	-	14	1782	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	MYH11_ENST00000396324.3_Missense_Mutation_p.G565D|MYH11_ENST00000576790.2_Missense_Mutation_p.G558D|MYH11_ENST00000452625.2_Missense_Mutation_p.G565D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	558	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.G558D(1)|p.Q557_S559delQGS(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGGGTGGCTGCCCTGCTCCGT	0.587			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	2	Substitution - Missense(1)|Deletion - In frame(1)	prostate(2)						ENSG00000133392						123	97	106					16																	15850274		2197	4300	6497	MYH11	SO:0001583	missense	0			-	HGNC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1673G>A	16.37:g.15850274C>T	ENSP00000300036:p.Gly558Asp	Somatic	0	141	0	705	0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	72	12.05	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.G565D	ENST00000300036.5	37	c.1694	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272246	0.80580	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.37	4.35	0.52113	Myosin head, motor domain (2);	0.286130	0.32655	N	0.005818	D	0.91503	0.7317	L	0.59436	1.845	0.80722	D	1	P;P;P;B;D;B	0.57899	0.892;0.756;0.756;0.348;0.981;0.348	P;P;P;P;D;D	0.74023	0.758;0.768;0.768;0.768;0.947;0.982	D	0.92193	0.5761	10	0.87932	D	0	.	14.6177	0.68560	0.0:0.8537:0.1463:0.0	.	565;558;558;565;558;565	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	D	558;558;565;565;565	ENSP00000300036:G558D;ENSP00000345136:G558D;ENSP00000379616:G565D;ENSP00000407821:G565D	ENSP00000300036:G558D	G	-	2	0	MYH11	15757775	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.754000	0.62191	2.518000	0.84900	0.555000	0.69702	GGC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	protein_coding	OTTHUMT00000252192.2	C	NM_001040113	-		15850274	-1	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15850274	C	T	15850274	3	4	240	1	0	0	0	0	1	0	0	0	10033	739	26	2	4392	2	MYH11	16	15850274	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09		15850274	74504479	52	19461											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77356258	77356258	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccgtcaatacaaacaTcatttttgtttggggagcag	8	9	2	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr16:77356258T>A	ENST00000282849.5	-	14	2556	c.2138A>T	c.(2137-2139)gAt>gTt	p.D713V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	713	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AATACAAACATCATTTTTGTT	0.418																																																	0								ENSG00000140873						175	158	164					16																	77356258		2198	4300	6498	ADAMTS18	SO:0001583	missense	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2138A>T	16.37:g.77356258T>A	ENSP00000282849:p.Asp713Val	Somatic	0	104	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	33	54.17	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP							pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D713V	ENST00000282849.5	37	c.2138	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203963	0.79127	.	.	ENSG00000140873	ENST00000282849	T	0.73681	-0.77	5.93	5.93	0.95920	.	0.107652	0.64402	D	0.000010	D	0.89914	0.6853	H	0.94847	3.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.944	D	0.92540	0.6041	10	0.87932	D	0	.	15.5755	0.76380	0.0:0.0:0.0:1.0	.	713;713	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	V	713	ENSP00000282849:D713V	ENSP00000282849:D713V	D	-	2	0	ADAMTS18	75913759	1.000000	0.71417	0.776000	0.31678	0.972000	0.66771	4.813000	0.62620	2.281000	0.76405	0.533000	0.62120	GAT	-	prints_Peptidase_M12B_ADAM-TS		0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	T		-		77356258	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	SNP	0.993	A	A	77356258	T	A	77356258	3	1	240	1	0	0	0	0	1	0	0	0	263	1435	50	5	1567	5	ADAMTS18	16	77356258	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	61505984	77356258	12998495	53	19462											
DNAH2	146754	genome.wustl.edu	37	chr17	7710493	7710493	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaacttcatcaagtcactGatcaactttgataaagacaa	5	9	4	4			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr17:7710493G>T	ENST00000572933.1	+	62	10928	c.9468G>T	c.(9466-9468)ctG>ctT	p.L3156L	DNAH2_ENST00000389173.2_Silent_p.L3156L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3156	Stalk. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAAGTCACTGATCAACTTTG	0.488																																																	0								ENSG00000183914						115	114	114					17																	7710493		2203	4300	6503	DNAH2	SO:0001819	synonymous_variant	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9468G>T	17.37:g.7710493G>T		Somatic	0	71	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3156	ENST00000572933.1	37	c.9468	CCDS32551.1	17																																																																																			-	NULL		0.488	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-		7710493	1	no_errors	ENST00000389173	ensembl	human	known	74_37	silent	SNP	1.000	T	T	7710493	G	T	7710493	2	4	240	1	0	0	0	0	0	0	0	1	4604	1277	45	3		3	DNAH2	17	7710493	Silent	SNP	G	TCGA-X9-A971-01A-11D-A387-09		7710493	73484717	54	19463											
ITGA3	3675	genome.wustl.edu	37	chr17	48153819	48153819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcctcaaccaggcacagGctctggagaaccacactgag	10	14	2	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr17:48153819G>A	ENST00000320031.8	+	13	2134	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.A602T	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	602					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCAGGCACAGGCTCTGGAGAA	0.662																																																	0								ENSG00000005884						90	102	98					17																	48153819		2203	4299	6502	ITGA3	SO:0001583	missense	0			-	HGNC	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1804G>A	17.37:g.48153819G>A	ENSP00000315190:p.Ala602Thr	Somatic	0	36	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP							pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A602T	ENST00000320031.8	37	c.1804	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152638	0.57259	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.45668	0.89;0.89	5.3	-2.11	0.07187	Integrin alpha-2 (1);	0.835419	0.11174	N	0.591671	T	0.29288	0.0729	L	0.53249	1.67	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.14023	0.003;0.01	T	0.33675	-0.9859	10	0.44086	T	0.13	.	0.3707	0.00379	0.2523:0.1826:0.3218:0.2433	.	602;602	P26006-1;P26006	.;ITA3_HUMAN	T	602;588;602	ENSP00000007722:A602T;ENSP00000315190:A602T	ENSP00000007722:A602T	A	+	1	0	ITGA3	45508818	0.052000	0.20516	0.978000	0.43139	0.932000	0.56968	0.046000	0.14035	-0.112000	0.11979	-0.824000	0.03097	GCT	-	pfam_Integrin_alpha-2		0.662	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	protein_coding	OTTHUMT00000366298.1	G	NM_005501	-		48153819	1	no_errors	ENST00000320031	ensembl	human	known	74_37	missense	SNP	0.818	A	A	48153819	G	A	48153819	3	1	240	1	0	0	0	0	1	0	0	0	7879	1203	42	2	1854	2	ITGA3	17	48153819	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	40443326	48153819	33041391	55	19464											
GRP	2922	genome.wustl.edu	37	chr18	56892836	56892836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagctgcaaggaatttGctgggtctcatagaagcaaa	12	6	1	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr18:56892836G>T	ENST00000256857.2	+	2	350	c.252G>T	c.(250-252)ttG>ttT	p.L84F	GRP_ENST00000420468.2_Missense_Mutation_p.L84F|GRP_ENST00000529320.2_Missense_Mutation_p.L84F	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	84					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CAAGGAATTTGCTGGGTCTCA	0.527																																																	0								ENSG00000134443						104	100	102					18																	56892836		2203	4300	6503	GRP	SO:0001583	missense	0			-	HGNC		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.252G>T	18.37:g.56892836G>T	ENSP00000256857:p.Leu84Phe	Somatic	0	82	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	39	35.00	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP							pfam_Bombesin	p.L84F	ENST00000256857.2	37	c.252	CCDS11971.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.807091|2.807091	0.50421|0.50421	.|.	.|.	ENSG00000134443|ENSG00000134443	ENST00000456142|ENST00000256857;ENST00000529320;ENST00000420468	.|T;T;T	.|0.52754	.|0.65;0.69;0.67	5.03|5.03	2.07|2.07	0.26955|0.26955	.|.	.|0.107610	.|0.38164	.|N	.|0.001789	T|T	0.51873|0.51873	0.1700|0.1700	L|L	0.43152|0.43152	1.355|1.355	0.37966|0.37966	D|D	0.93311|0.93311	.|D;D;B	.|0.89917	.|1.0;0.999;0.356	.|D;D;B	.|0.91635	.|0.999;0.997;0.342	T|T	0.57093|0.57093	-0.7870|-0.7870	5|10	.|0.87932	.|D	.|0	-10.5092|-10.5092	2.6477|2.6477	0.04990|0.04990	0.1771:0.1453:0.5286:0.1491|0.1771:0.1453:0.5286:0.1491	.|.	.|84;84;84	.|P07492-3;P07492;P07492-2	.|.;GRP_HUMAN;.	F|F	40|84	.|ENSP00000256857:L84F;ENSP00000434101:L84F;ENSP00000389696:L84F	.|ENSP00000256857:L84F	C|L	+|+	2|3	0|2	GRP|GRP	55043816|55043816	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.798000|0.798000	0.45092|0.45092	0.838000|0.838000	0.27572|0.27572	1.114000|1.114000	0.41781|0.41781	0.655000|0.655000	0.94253|0.94253	TGC|TTG	-	NULL		0.527	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	protein_coding	OTTHUMT00000256131.2	G	NM_002091	-		56892836	1	no_errors	ENST00000256857	ensembl	human	known	74_37	missense	SNP	0.994	T	T	56892836	G	T	56892836	3	4	240	1	0	0	0	0	1	0	0	0	6807	1310	46	3	258	3	GRP	18	56892836	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09		56892836	21184412	56	19465											
KDM4B	23030	genome.wustl.edu	37	chr19	5077423	5077423	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacgccttcctgcggcAtaagatgaccctcatctcgc	9	16	2	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr19:5077423A>C	ENST00000159111.4	+	8	940	c.722A>C	c.(721-723)cAt>cCt	p.H241P	KDM4B_ENST00000381759.4_Missense_Mutation_p.H241P|KDM4B_ENST00000536461.1_Missense_Mutation_p.H241P|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	241	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTCCTGCGGCATAAGATGACC	0.652																																																	0								ENSG00000127663						135	137	137					19																	5077423		2203	4300	6503	KDM4B	SO:0001583	missense	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.722A>C	19.37:g.5077423A>C	ENSP00000159111:p.His241Pro	Somatic	0	116	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	116	10.77	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP							pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.H241P	ENST00000159111.4	37	c.722	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475045	0.84640	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.70986	-0.53;-0.53;-0.53	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.92759	0.6222	10	0.87932	D	0	-45.6696	13.8579	0.63540	1.0:0.0:0.0:0.0	.	241;241;241	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	P	241	ENSP00000159111:H241P;ENSP00000371178:H241P;ENSP00000440495:H241P	ENSP00000159111:H241P	H	+	2	0	KDM4B	5028423	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.172000	0.94808	1.679000	0.50963	0.379000	0.24179	CAT	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.652	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	A	NM_015015	-		5077423	1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	SNP	1.000	C	C	5077423	A	C	5077423	3	2	240	1	0	0	0	0	1	0	0	0	8131	217	8	5	744	5	KDM4B	19	5077423	Missense_Mutation	SNP	A	TCGA-X9-A971-01A-11D-A387-09		5077423	54051560	57	19466											
MAST1	22983	genome.wustl.edu	37	chr19	12977542	12977542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcccgtggaaatccGccagttctcttcctgctctc	11	14	2	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr19:12977542G>T	ENST00000251472.4	+	18	2144	c.2105G>T	c.(2104-2106)cGc>cTc	p.R702L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTGGAAATCCGCCAGTTCTCT	0.622																																																	0								ENSG00000105613						85	56	66					19																	12977542		2203	4300	6503	MAST1	SO:0001583	missense	0			-	HGNC	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2105G>T	19.37:g.12977542G>T	ENSP00000251472:p.Arg702Leu	Somatic	0	32	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Missense_Mutation	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R702L	ENST00000251472.4	37	c.2105	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401575	0.83120	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.22743	1.94	4.84	4.84	0.62591	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.162179	0.41097	D	0.000952	T	0.38081	0.1027	M	0.79805	2.47	0.41587	D	0.988773	P	0.49253	0.921	P	0.49752	0.621	T	0.34453	-0.9828	10	0.45353	T	0.12	-28.4494	15.8057	0.78506	0.0:0.0:1.0:0.0	.	702	Q9Y2H9	MAST1_HUMAN	L	702	ENSP00000251472:R702L	ENSP00000251472:R702L	R	+	2	0	MAST1	12838542	0.886000	0.30341	1.000000	0.80357	0.997000	0.91878	3.803000	0.55560	2.405000	0.81733	0.557000	0.71058	CGC	-	superfamily_Kinase-like_dom		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	protein_coding	OTTHUMT00000451733.2	G	NM_014975	-		12977542	1	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	SNP	1.000	T	T	12977542	G	T	12977542	3	4	240	1	0	0	0	0	1	0	0	0	9326	1087	38	3	2175	3	MAST1	19	12977542	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	7900119	12977542	46151441	58	19467											
NOTCH3	4854	genome.wustl.edu	37	chr19	15281256	15281256	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgtgctcgcgcttgCgccgggccaccatgacaccc	14	16	0	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr19:15281256C>G	ENST00000263388.2	-	27	5075	c.5000G>C	c.(4999-5001)cGc>cCc	p.R1667P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1667					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCGCGCTTGCGCCGGGCCAC	0.672																																																	0								ENSG00000074181						38	44	42					19																	15281256		2203	4298	6501	NOTCH3	SO:0001583	missense	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5000G>C	19.37:g.15281256C>G	ENSP00000263388:p.Arg1667Pro	Somatic	0	47	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP							pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R1667P	ENST00000263388.2	37	c.5000	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992491	0.93167	.	.	ENSG00000074181	ENST00000263388	D	0.89681	-2.55	3.69	3.69	0.42338	.	.	.	.	.	D	0.94785	0.8316	M	0.88241	2.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.95745	0.8787	9	0.87932	D	0	.	14.3463	0.66665	0.0:1.0:0.0:0.0	.	1667	Q9UM47	NOTC3_HUMAN	P	1667	ENSP00000263388:R1667P	ENSP00000263388:R1667P	R	-	2	0	NOTCH3	15142256	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.571000	0.82399	1.906000	0.55180	0.491000	0.48974	CGC	-	pirsf_Notch		0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	C	NM_000435	-		15281256	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	SNP	0.998	G	G	15281256	C	G	15281256	3	3	240	1	0	0	0	0	1	0	0	0	10552	768	27	4	1993	4	NOTCH3	19	15281256	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	2303714	15281256	43847727	59	19468											
HAPLN4	404037	genome.wustl.edu	37	chr19	19371776	19371776	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccgcccacggtagctGccgaatgcccggtgctgggg	15	15	1	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr19:19371776G>T	ENST00000291481.7	-	3	393	c.330C>A	c.(328-330)ggC>ggA	p.G110G	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	110	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CACGGTAGCTGCCGAATGCCC	0.682																																																	0								ENSG00000187664						43	46	45					19																	19371776		2203	4299	6502	HAPLN4	SO:0001819	synonymous_variant	0			-	HGNC	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.330C>A	19.37:g.19371776G>T		Somatic	0	44	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A5PKW5|Q96PW2	Silent	SNP							pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.G110	ENST00000291481.7	37	c.330	CCDS12398.1	19																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.682	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	protein_coding	OTTHUMT00000460117.2	G	NM_023002	-		19371776	-1	no_errors	ENST00000291481	ensembl	human	known	74_37	silent	SNP	0.978	T	T	19371776	G	T	19371776	2	4	240	1	0	0	0	0	0	0	0	1	6959	1306	46	3		3	HAPLN4	19	19371776	Silent	SNP	G	TCGA-X9-A971-01A-11D-A387-09	4090520	19371776	39757207	60	19469											
ZNF536	9745	genome.wustl.edu	37	chr19	31038939	31038939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcgacaccatcgggagCggcagaacggggctgggccg	18	11	0	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr19:31038939C>T	ENST00000355537.3	+	4	2560	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	805					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCGGGAGCGGCAGAACGG	0.537																																																	0								ENSG00000198597						67	73	71					19																	31038939		2203	4300	6503	ZNF536	SO:0001583	missense	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2413C>T	19.37:g.31038939C>T	ENSP00000347730:p.Arg805Trp	Somatic	0	54	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A2RU18	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R805W	ENST00000355537.3	37	c.2413	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200011	0.38905	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.98	2.55	0.30701	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.32530	0.975	0.45172	D	0.998183	D;D	0.89917	1.0;1.0	D;D	0.65987	0.94;0.94	T	0.00617	-1.1642	10	0.87932	D	0	-19.5882	15.7677	0.78141	0.5855:0.4145:0.0:0.0	.	805;805	A7E228;O15090	.;ZN536_HUMAN	W	805	ENSP00000347730:R805W	ENSP00000347730:R805W	R	+	1	2	ZNF536	35730779	1.000000	0.71417	0.993000	0.49108	0.690000	0.40134	2.364000	0.44187	0.364000	0.24374	0.591000	0.81541	CGG	-	pfscan_Znf_C2H2		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	C	NM_014717	-		31038939	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	SNP	1.000	T	T	31038939	C	T	31038939	3	4	240	1	0	0	0	0	1	0	0	0	17981	759	27	1	2423	1	ZNF536	19	31038939	Missense_Mutation	SNP	C	TCGA-X9-A971-01A-11D-A387-09	11667163	31038939	28090044	61	19470											
PVRL2	5819	genome.wustl.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082																0								ENSG00000130202		,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				PVRL2	SO:0001627	intron_variant	0				HGNC	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG		Somatic	0	44	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL							pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E441in_frame_del	ENST00000252483.5	37	c.1312_1314	CCDS42576.1	19																																																																																			-	NULL		0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	protein_coding	OTTHUMT00000453231.1	GAG	NM_002856			45381751	1	no_errors	ENST00000252485	ensembl	human	known	74_37	in_frame_del	DEL	0.686:0.659:0.301	-	-	45381751	GAG	-	45381749	6	5	240	0	1	1	0	1	0	0	0	0	12848	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-X9-A971-01A-11D-A387-09	14342810	45381749	13747234	62	19471											
NFATC2	4773	genome.wustl.edu	37	chr20	50092070	50092070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactatcttctcatagctgGtggtggtgacagttttcccc	9	12	2	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr20:50092070G>T	ENST00000396009.3	-	4	1679	c.1460C>A	c.(1459-1461)aCc>aAc	p.T487N	NFATC2_ENST00000609943.1_Missense_Mutation_p.T467N|NFATC2_ENST00000610033.1_Missense_Mutation_p.T268N|NFATC2_ENST00000371564.3_Missense_Mutation_p.T487N|NFATC2_ENST00000609507.1_Missense_Mutation_p.T268N|NFATC2_ENST00000414705.1_Missense_Mutation_p.T467N	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	487	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 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 transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCATAGCTGGTGGTGGTGAC	0.552																																																	0								ENSG00000101096						230	224	226					20																	50092070		2203	4300	6503	NFATC2	SO:0001583	missense	0			-	HGNC	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1460C>A	20.37:g.50092070G>T	ENSP00000379330:p.Thr487Asn	Somatic	0	171	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP							pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.T487N	ENST00000396009.3	37	c.1460	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872204	0.72180	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.41065	1.01;1.01;1.01	5.26	4.3	0.51218	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.100497	0.64402	D	0.000002	T	0.49064	0.1535	N	0.16478	0.41	0.47621	D	0.999477	P;D;P;P	0.76494	0.868;0.999;0.787;0.787	P;D;P;P	0.83275	0.678;0.996;0.678;0.678	T	0.56968	-0.7891	10	0.87932	D	0	-34.584	15.3026	0.73966	0.0:0.0:0.8589:0.1411	.	467;467;487;487	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	N	487;487;268;467	ENSP00000360619:T487N;ENSP00000379330:T487N;ENSP00000396471:T467N	ENSP00000360619:T487N	T	-	2	0	NFATC2	49525477	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.930000	0.87610	1.197000	0.43143	-0.175000	0.13238	ACC	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.552	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	protein_coding	OTTHUMT00000079730.2	G	NM_012340	-		50092070	-1	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50092070	G	T	50092070	3	4	240	1	0	0	0	0	1	0	0	0	10364	1261	44	3	1393	3	NFATC2	20	50092070	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09		50092070	12933450	63	19472											
ZNF217	7764	genome.wustl.edu	37	chr20	52192497	52192497	+	Frame_Shift_Del	DEL	A	A	-													aaggtcatagcctcttctgtAattggccccgggctggtcaa							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr20:52192497delA	ENST00000371471.2	-	4	3231	c.2806delT	c.(2806-2808)tacfs	p.Y936fs	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Frame_Shift_Del_p.Y936fs			O75362	ZN217_HUMAN	zinc finger protein 217	936					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCTTCTGTAATTGGCCCCG	0.547																																																	0								ENSG00000171940						117	96	103					20																	52192497		2203	4300	6503	ZNF217	SO:0001589	frameshift_variant	0				HGNC	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2806delT	20.37:g.52192497delA	ENSP00000360526:p.Tyr936fs	Somatic	0	68	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	E1P5Y6|Q14DB8	Frame_Shift_Del	DEL							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y936fs	ENST00000371471.2	37	c.2806	CCDS13443.1	20																																																																																			-	NULL		0.547	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	protein_coding	OTTHUMT00000079757.2	A	NM_006526			52192497	-1	no_errors	ENST00000302342	ensembl	human	known	74_37	frame_shift_del	DEL	0.001	-	-	52192497	A	-	52192497	7	5	240	1	0	1	0	1	0	0	0	0	17779	362	13	0	348	0	ZNF217	20	52192497	Frame_Shift_Del	DEL	A	TCGA-X9-A971-01A-11D-A387-09	2100427	52192497	10833023	64	19473											
SYCP2	10388	genome.wustl.edu	37	chr20	58476847	58476847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagaattattgtcagtAgcttctttgattctctcact	5	8	5	2			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr20:58476847A>G	ENST00000357552.3	-	16	1277	c.1052T>C	c.(1051-1053)cTa>cCa	p.L351P	SYCP2_ENST00000371001.2_Missense_Mutation_p.L351P			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	351					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATTGTCAGTAGCTTCTTTGA	0.308																																																	0								ENSG00000196074						67	65	66					20																	58476847		2199	4281	6480	SYCP2	SO:0001583	missense	0			-	HGNC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1052T>C	20.37:g.58476847A>G	ENSP00000350162:p.Leu351Pro	Somatic	0	86	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	4	87.10	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP							NULL	p.L351P	ENST00000357552.3	37	c.1052	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471882	0.63737	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.22336	2.2;2.2;1.96	5.78	5.78	0.91487	.	0.121018	0.37393	N	0.002118	T	0.44117	0.1278	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.71870	0.944;0.975	T	0.39396	-0.9616	10	0.87932	D	0	-2.9631	13.6269	0.62170	1.0:0.0:0.0:0.0	.	351;351	A2A341;Q9BX26	.;SYCP2_HUMAN	P	351	ENSP00000360040:L351P;ENSP00000350162:L351P;ENSP00000402456:L351P	ENSP00000350162:L351P	L	-	2	0	SYCP2	57910242	1.000000	0.71417	0.942000	0.38095	0.816000	0.46133	6.124000	0.71620	2.191000	0.70037	0.528000	0.53228	CTA	-	NULL		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	A	NM_014258	-		58476847	-1	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	SNP	0.996	G	G	58476847	A	G	58476847	3	3	240	1	0	0	0	0	1	0	0	0	15439	420	15	5	3660	5	SYCP2	20	58476847	Missense_Mutation	SNP	A	TCGA-X9-A971-01A-11D-A387-09	6284350	58476847	4548673	65	19474											
SYCP2	10388	genome.wustl.edu	37	chr20	58496452	58496452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatcaatttgcaaaagtgtTttcaaaggtttgaaatcatt	6	4	3	1			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr20:58496452T>A	ENST00000357552.3	-	4	306	c.81A>T	c.(79-81)aaA>aaT	p.K27N	SYCP2_ENST00000371001.2_Missense_Mutation_p.K27N|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	27					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCAAAAGTGTTTTCAAAGGTT	0.303																																																	0								ENSG00000196074						52	49	50					20																	58496452		2198	4291	6489	SYCP2	SO:0001583	missense	0			-	HGNC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.81A>T	20.37:g.58496452T>A	ENSP00000350162:p.Lys27Asn	Somatic	0	75	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	12	79.69	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP							NULL	p.K27N	ENST00000357552.3	37	c.81	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608603	0.28623	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.46451	2.45;2.45;2.19;0.87	5.04	2.7	0.31948	.	0.685143	0.14295	N	0.328675	T	0.33469	0.0864	L	0.47716	1.5	0.09310	N	1	P	0.36909	0.573	B	0.36186	0.219	T	0.12372	-1.0550	10	0.40728	T	0.16	-1.0514	7.2584	0.26189	0.0:0.0778:0.1462:0.776	.	27	Q9BX26	SYCP2_HUMAN	N	27;27;27;26	ENSP00000360040:K27N;ENSP00000350162:K27N;ENSP00000402456:K27N;ENSP00000399300:K26N	ENSP00000350162:K27N	K	-	3	2	SYCP2	57929847	0.399000	0.25287	0.204000	0.23530	0.738000	0.42128	0.872000	0.28037	0.335000	0.23614	0.383000	0.25322	AAA	-	NULL		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	T	NM_014258	-		58496452	-1	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	SNP	0.064	A	A	58496452	T	A	58496452	3	1	240	1	0	0	0	0	1	0	0	0	15439	1838	64	5	4679	5	SYCP2	20	58496452	Missense_Mutation	SNP	T	TCGA-X9-A971-01A-11D-A387-09	19605	58496452	4529068	66	19475											
LAMA5	3911	genome.wustl.edu	37	chr20	60905970	60905970	+	Frame_Shift_Del	DEL	C	C	-													aggatgatgggctggggcggCtttgggaagcgcgagggcag							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr20:60905970delC	ENST00000252999.3	-	30	3747	c.3681delG	c.(3679-3681)aagfs	p.K1227fs	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1227	Domain IV 1 (domain IV B).				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)			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)			GCTGGGGCGGCTTTGGGAAGC	0.726																																																	0								ENSG00000130702						15	20	18					20																	60905970		2092	4099	6191	LAMA5	SO:0001589	frameshift_variant	0				HGNC	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.3681delG	20.37:g.60905970delC	ENSP00000252999:p.Lys1227fs	Somatic	0	79	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL							pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.K1227fs	ENST00000252999.3	37	c.3681	CCDS33502.1	20																																																																																			-	NULL		0.726	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	C	NM_005560			60905970	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	60905970	C	-	60905970	7	5	240	1	0	1	0	1	0	0	0	0	8611	796	28	0	7610	0	LAMA5	20	60905970	Frame_Shift_Del	DEL	C	TCGA-X9-A971-01A-11D-A387-09	2409518	60905970	2119550	67	19476											
UCKL1	54963	genome.wustl.edu	37	chr20	62587648	62587648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgcttttctcagcctgCcggcctggtgtgtctcgggc	13	14	3	0			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr20:62587648C>T	ENST00000354216.6	-	1	120	c.78G>A	c.(76-78)cgG>cgA	p.R26R	UCKL1_ENST00000369892.3_Silent_p.R26R|UCKL1_ENST00000358711.3_Silent_p.R26R	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	26					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCAGCCTGCCGGCCTGGTG	0.726																																																	0								ENSG00000198276						23	23	23					20																	62587648		2193	4284	6477	UCKL1	SO:0001819	synonymous_variant	0			-	HGNC	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.78G>A	20.37:g.62587648C>T		Somatic	0	104	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP							pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.R26	ENST00000354216.6	37	c.78	CCDS13547.1	20																																																																																			-	NULL		0.726	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	protein_coding	OTTHUMT00000080236.1	C	NM_017859	-		62587648	-1	no_errors	ENST00000354216	ensembl	human	known	74_37	silent	SNP	0.005	T	T	62587648	C	T	62587648	2	4	240	1	0	0	0	0	0	0	0	1	16932	726	26	2		2	UCKL1	20	62587648	Silent	SNP	C	TCGA-X9-A971-01A-11D-A387-09	1681678	62587648	437872	68	19477											
HSF2BP	11077	genome.wustl.edu	37	chr21	44949764	44949764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctccggaactcagaggccGacttggagaagacttcaggt	13	10	2	3			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr21:44949764G>A	ENST00000291560.2	-	9	1206	c.875C>T	c.(874-876)tCg>tTg	p.S292L	HSF2BP_ENST00000542962.1_Missense_Mutation_p.S217L	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	292					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTCAGAGGCCGACTTGGAGAA	0.572																																																	0								ENSG00000160207						65	66	66					21																	44949764		2203	4300	6503	HSF2BP	SO:0001583	missense	0			-	HGNC	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.875C>T	21.37:g.44949764G>A	ENSP00000291560:p.Ser292Leu	Somatic	0	67	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	41	50.00	B4DX36	Missense_Mutation	SNP							superfamily_ARM-type_fold	p.S292L	ENST00000291560.2	37	c.875	CCDS13697.1	21	.	.	.	.	.	.	.	.	.	.	G	5.382	0.255646	0.10185	.	.	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.66099	-0.19;0.86	5.57	-0.0836	0.13693	Armadillo-like helical (1);Armadillo-type fold (1);	0.873444	0.10300	N	0.691241	T	0.34629	0.0904	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.10111	T	0.7	-19.4038	10.8313	0.46663	0.5355:0.0:0.4645:0.0	.	292	O75031	HSF2B_HUMAN	L	292;217	ENSP00000291560:S292L;ENSP00000443367:S217L	ENSP00000291560:S292L	S	-	2	0	HSF2BP	43774192	0.009000	0.17119	0.000000	0.03702	0.890000	0.51754	0.839000	0.27586	0.042000	0.15717	0.563000	0.77884	TCG	-	superfamily_ARM-type_fold		0.572	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2BP	protein_coding	OTTHUMT00000195620.1	G	NM_007031	-		44949764	-1	no_errors	ENST00000291560	ensembl	human	known	74_37	missense	SNP	0.000	A	A	44949764	G	A	44949764	3	1	240	1	0	0	0	0	1	0	0	0	7399	1059	37	1	133	1	HSF2BP	21	44949764	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09		44949764	3180131	69	19478											
PCNT	5116	genome.wustl.edu	37	chr21	47852034	47852034	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acccacggttgaaagagcaaGaaggacgcaaggctgcgagg	15	9	0	3			TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chr21:47852034G>C	ENST00000359568.5	+	38	8763	c.8656G>C	c.(8656-8658)Gaa>Caa	p.E2886Q	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2886					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAAGAGCAAGAAGGACGCAA	0.592																																																	0								ENSG00000160299						59	53	55					21																	47852034		2203	4300	6503	PCNT	SO:0001583	missense	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8656G>C	21.37:g.47852034G>C	ENSP00000352572:p.Glu2886Gln	Somatic	0	20	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	O43152|Q7Z7C9	Missense_Mutation	SNP							pfam_PACT_domain	p.E2886Q	ENST00000359568.5	37	c.8656	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339984	0.41398	.	.	ENSG00000160299	ENST00000359568	T	0.01484	4.84	5.15	4.27	0.50696	.	.	.	.	.	T	0.02418	0.0074	N	0.19112	0.55	0.09310	N	1	D	0.56035	0.974	P	0.49140	0.601	T	0.56147	-0.8027	9	0.27785	T	0.31	.	12.9147	0.58199	0.0786:0.0:0.9214:0.0	.	2886	O95613	PCNT_HUMAN	Q	2886	ENSP00000352572:E2886Q	ENSP00000352572:E2886Q	E	+	1	0	PCNT	46676462	0.777000	0.28628	0.002000	0.10522	0.008000	0.06430	2.254000	0.43214	1.316000	0.45131	0.655000	0.94253	GAA	-	NULL		0.592	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	G	NM_006031	-		47852034	1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	SNP	0.022	C	C	47852034	G	C	47852034	3	2	240	1	0	0	0	0	1	0	0	0	11592	943	33	4	8806	4	PCNT	21	47852034	Missense_Mutation	SNP	G	TCGA-X9-A971-01A-11D-A387-09	2902270	47852034	277861	70	19479											
ATRX	546	genome.wustl.edu	37	chrX	76939662	76939662	+	Frame_Shift_Del	DEL	G	G	-													ctggagttcatgttggctgtGgtctcaatcagtttttttgc							TCGA-X9-A971-01A-11D-A387-09	TCGA-X9-A971-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40187452-3e55-49e2-a541-e272da5ea58f	fc27b823-1add-40bb-9e0b-49f2e340b162	g.chrX:76939662delG	ENST00000373344.5	-	9	1300	c.1086delC	c.(1084-1086)accfs	p.T363fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.T325fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	363					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTTGGCTGTGGTCTCAATCA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						107	104	105					X																	76939662		2203	4295	6498	ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1086delC	X.37:g.76939662delG	ENSP00000362441:p.Thr363fs	Somatic	0	60	0		0.597652363599488				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL							pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T363fs	ENST00000373344.5	37	c.1086	CCDS14434.1	X																																																																																			-	NULL		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489			76939662	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	0.468	-	-	76939662	G	-	76939662	7	5	240	1	0	1	0	1	0	0	0	0	1208	1335	47	0	6500	0	ATRX	23	76939662	Frame_Shift_Del	DEL	G	TCGA-X9-A971-01A-11D-A387-09		76939662	78330898	71	19480											
CCNL2	81669	genome.wustl.edu	37	chr1	1334664	1334666	+	In_Frame_Del	DEL	GCC	GCC	-													ctgccgaccctgcagcaccaGccgccgccgccgccgccgcc							TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr1:1334664_1334666delGCC	ENST00000400809.3	-	1	26_28	c.21_23delGGC	c.(19-24)gcggct>gct	p.7_8AA>A	CCNL2_ENST00000408918.4_In_Frame_Del_p.7_8AA>A|RP4-758J18.2_ENST00000576232.1_5'Flank|MRPL20_ENST00000493287.1_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408952.5_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	7					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A8S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGCAGCACCAgccgccgccgccg	0.773																																																	1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000221978																																			CCNL2	SO:0001651	inframe_deletion	0				HGNC	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.21_23delGGC	1.37:g.1334673_1334675delGCC	ENSP00000383611:p.Ala8del	Somatic	0	27	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	In_Frame_Del	DEL							pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.A8in_frame_del	ENST00000400809.3	37	c.23_21	CCDS30557.1	1																																																																																			-	pirsf_Cyclin_L		0.773	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	protein_coding	OTTHUMT00000008146.2	GCC	NM_030937			1334666	-1	no_errors	ENST00000400809	ensembl	human	known	74_37	in_frame_del	DEL	0.005:0.003:0.058	-	-	1334666	GCC	-	1334664	7	5	241	1	0	1	0	1	0	0	0	0	2934	971	34	0	1609	0	CCNL2	1	1334664	In_Frame_Del	DEL	GCC	TCGA-X9-A973-01A-11D-A387-09		1334664	247915957	1	19481											
TTC22	55001	genome.wustl.edu	37	chr1	55251790	55251790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccaggcgattcaggatggGaggttggttcttggcaatct	15	7	3	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr1:55251790G>T	ENST00000371276.4	-	5	989	c.886C>A	c.(886-888)Ccc>Acc	p.P296T	TTC22_ENST00000371274.4_Missense_Mutation_p.P296T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	296										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTCAGGATGGGAGGTTGGTTC	0.498																																																	0								ENSG00000006555						112	95	101					1																	55251790		2203	4300	6503	TTC22	SO:0001583	missense	0			-	HGNC	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.886C>A	1.37:g.55251790G>T	ENSP00000360323:p.Pro296Thr	Somatic	0	76	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q9NWT4	Missense_Mutation	SNP							smart_TPR_repeat	p.P296T	ENST00000371276.4	37	c.886	CCDS44152.1	1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922896	0.18056	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T;T	0.58797	1.61;2.31;0.31	4.71	3.68	0.42216	Tetratricopeptide-like helical (1);	0.287810	0.35320	N	0.003292	T	0.40956	0.1138	N	0.19112	0.55	0.31202	N	0.699719	B;B	0.30439	0.047;0.279	B;B	0.31101	0.036;0.124	T	0.45991	-0.9223	10	0.34782	T	0.22	-18.9899	11.5004	0.50435	0.0963:0.0:0.9037:0.0	.	296;296	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	T	296;296;77	ENSP00000360323:P296T;ENSP00000360321:P296T;ENSP00000390300:P77T	ENSP00000360321:P296T	P	-	1	0	TTC22	55024378	0.574000	0.26684	0.512000	0.27736	0.723000	0.41478	0.936000	0.28938	1.048000	0.40298	0.561000	0.74099	CCC	-	smart_TPR_repeat		0.498	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	protein_coding	OTTHUMT00000027438.1	G	NM_017904	-		55251790	-1	no_errors	ENST00000371276	ensembl	human	known	74_37	missense	SNP	0.852	T	T	55251790	G	T	55251790	3	4	241	1	0	0	0	0	1	0	0	0	16696	1174	41	3	938	3	TTC22	1	55251790	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	53917126	55251790	193998831	2	19482											
CR1	1378	genome.wustl.edu	37	chr1	207753676	207753676	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtgttctacagctgTgagcctggctatgacctcag	12	10	2	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr1:207753676T>C	ENST00000367049.4	+	30	5028	c.5028T>C	c.(5026-5028)tgT>tgC	p.C1676C	CR1_ENST00000367052.1_Silent_p.C1226C|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Silent_p.C1226C|CR1_ENST00000367051.1_Silent_p.C1226C|CR1_ENST00000400960.2_Silent_p.C1226C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1226	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						TCTACAGCTGTGAGCCTGGCT	0.577																																																	0								ENSG00000203710						123	127	126					1																	207753676		1984	4177	6161	CR1	SO:0001819	synonymous_variant	0			-	HGNC	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.5028T>C	1.37:g.207753676T>C		Somatic	0	142	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	34	54.05	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP							pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.C1676	ENST00000367049.4	37	c.5028	CCDS44308.1	1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.577	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	protein_coding	OTTHUMT00000382527.1	T	NM_000573	-		207753676	1	no_errors	ENST00000367049	ensembl	human	known	74_37	silent	SNP	1.000	C	C	207753676	T	C	207753676	2	2	241	1	0	0	0	0	0	0	0	1	3842	1702	59	5		5	CR1	1	207753676	Silent	SNP	T	TCGA-X9-A973-01A-11D-A387-09	152501886	207753676	41496945	3	19483											
SLC9A4	389015	genome.wustl.edu	37	chr2	103148889	103148889	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcacaagaaataataccaatGaagagcctacacagaggaag	9	8	0	4			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr2:103148889G>T	ENST00000295269.4	+	12	2596	c.2139G>T	c.(2137-2139)atG>atT	p.M713I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	713					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TAATACCAATGAAGAGCCTAC	0.478																																																	0								ENSG00000180251						89	84	86					2																	103148889		2203	4300	6503	SLC9A4	SO:0001583	missense	0			-	HGNC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2139G>T	2.37:g.103148889G>T	ENSP00000295269:p.Met713Ile	Somatic	0	49	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	31	35.42	Q69YK0	Missense_Mutation	SNP							pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.M713I	ENST00000295269.4	37	c.2139	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182463	0.21870	.	.	ENSG00000180251	ENST00000295269	T	0.45668	0.89	4.9	4.9	0.64082	.	1.059790	0.07185	N	0.854634	T	0.38558	0.1045	L	0.34521	1.04	0.30781	N	0.741957	B	0.25667	0.131	B	0.22386	0.039	T	0.28332	-1.0047	10	0.45353	T	0.12	.	15.3561	0.74428	0.0:0.0:1.0:0.0	.	713	Q6AI14	SL9A4_HUMAN	I	713	ENSP00000295269:M713I	ENSP00000295269:M713I	M	+	3	0	SLC9A4	102515321	1.000000	0.71417	0.698000	0.30274	0.007000	0.05969	5.010000	0.64004	2.432000	0.82394	0.655000	0.94253	ATG	-	NULL		0.478	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	protein_coding	OTTHUMT00000329498.1	G	NM_001011552.3	-		103148889	1	no_errors	ENST00000295269	ensembl	human	known	74_37	missense	SNP	0.976	T	T	103148889	G	T	103148889	3	4	241	1	0	0	0	0	1	0	0	0	14724	1290	45	3	2185	3	SLC9A4	2	103148889	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09		103148889	140050484	4	19484											
SLC35F5	80255	genome.wustl.edu	37	chr2	114500276	114500277	+	Frame_Shift_Ins	INS	-	-	A													taaaagacctaccacaaagcINSaaaaaaaaaagctaattttc					rs577214214	byFrequency	TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr2:114500276_114500277insA	ENST00000245680.2	-	7	1155_1156	c.742_743insT	c.(742-744)tgcfs	p.C248fs	SLC35F5_ENST00000409342.1_Frame_Shift_Ins_p.C242fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	248					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.C248fs*22(2)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACCACAAAGCAAAAAAAAAAG	0.342													|||unknown(HR)	9	0.00179712	0.0015	0	5008	,	,		19453	0.002		0	False		,,,				2504	0.0051																3	Deletion - Frameshift(2)|Unknown(1)	ovary(2)|skin(1)						ENSG00000115084																																			SLC35F5	SO:0001589	frameshift_variant	0				HGNC	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.743dupT	2.37:g.114500286_114500286dupA	ENSP00000245680:p.Cys248fs	Somatic	0	64	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q9H6P8|Q9H7D8	Frame_Shift_Ins	INS							pfam_DMT	p.C248fs	ENST00000245680.2	37	c.743_742	CCDS2119.1	2																																																																																			-	pfam_DMT		0.342	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	protein_coding	OTTHUMT00000254150.1	-	NM_025181			114500277	-1	no_errors	ENST00000245680	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	114500277	-	A	114500276	7	5	241	1	0	1	1	0	0	0	0	0	14600	710	25	0	864	0	SLC35F5	2	114500276	Frame_Shift_Ins	INS	-	TCGA-X9-A973-01A-11D-A387-09	11351387	114500276	128699097	5	19485											
PDE1A	5136	genome.wustl.edu	37	chr2	183066503	183066503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaaccatttcaatcactaGgttccgaagatccctgcaga	6	11	2	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr2:183066503G>T	ENST00000410103.1	-	10	1047	c.964C>A	c.(964-966)Cta>Ata	p.L322I	PDE1A_ENST00000409365.1_Missense_Mutation_p.L306I|PDE1A_ENST00000346717.4_Missense_Mutation_p.L288I|PDE1A_ENST00000456212.1_Missense_Mutation_p.L322I|PDE1A_ENST00000351439.5_Missense_Mutation_p.L306I|PDE1A_ENST00000331935.6_Missense_Mutation_p.L322I|PDE1A_ENST00000536095.1_Missense_Mutation_p.L218I|PDE1A_ENST00000435564.1_Missense_Mutation_p.L322I|PDE1A_ENST00000358139.2_Missense_Mutation_p.L322I	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	322	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCAATCACTAGGTTCCGAAGA	0.388																																																	0								ENSG00000115252						70	69	70					2																	183066503		2203	4300	6503	PDE1A	SO:0001583	missense	0			-	HGNC		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.964C>A	2.37:g.183066503G>T	ENSP00000387037:p.Leu322Ile	Somatic	0	42	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	51	15.00	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP							pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.L322I	ENST00000410103.1	37	c.964	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219163	0.58560	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.06	2.27	0.28462	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.189104	0.37178	N	0.002208	D	0.87156	0.6107	L	0.58354	1.805	0.50171	D	0.999859	D;D;P;D;D	0.89917	0.998;1.0;0.933;1.0;0.997	D;D;P;D;D	0.91635	0.98;0.999;0.897;0.991;0.967	D	0.85038	0.0921	10	0.72032	D	0.01	.	8.5596	0.33503	0.3382:0.0:0.6618:0.0	.	218;288;322;306;322	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	I	322;288;218;306;322;306;322;322;322	ENSP00000410309:L322I;ENSP00000329112:L288I;ENSP00000439938:L218I;ENSP00000386767:L306I;ENSP00000331574:L322I;ENSP00000309269:L306I;ENSP00000387037:L322I;ENSP00000350858:L322I;ENSP00000408874:L322I	ENSP00000331574:L322I	L	-	1	2	PDE1A	182774748	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.125000	0.42016	0.245000	0.21373	0.655000	0.94253	CTA	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.388	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	protein_coding	OTTHUMT00000334356.1	G		-		183066503	-1	no_errors	ENST00000456212	ensembl	human	known	74_37	missense	SNP	0.999	T	T	183066503	G	T	183066503	3	4	241	1	0	0	0	0	1	0	0	0	11635	991	35	3	745	3	PDE1A	2	183066503	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	68566227	183066503	60132870	6	19486											
RARB	5915	genome.wustl.edu	37	chr3	25635144	25635144	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaaccagctcctgcctttgGaaatggatgacacagaaaca	8	12	0	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr3:25635144G>T	ENST00000404969.1	+	6	958	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	RARB_ENST00000330688.4_Nonsense_Mutation_p.E313*|RARB_ENST00000458646.1_Nonsense_Mutation_p.E201*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Nonsense_Mutation_p.E201*			P10826	RARB_HUMAN	retinoic acid receptor, beta	320	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCTGCCTTTGGAAATGGATGA	0.468																																																	0								ENSG00000077092						144	131	135					3																	25635144		2203	4300	6503	RARB	SO:0001587	stop_gained	0			-	HGNC	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.958G>T	3.37:g.25635144G>T	ENSP00000385865:p.Glu320*	Somatic	0	79	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP							pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.E320*	ENST00000404969.1	37	c.958		3	.	.	.	.	.	.	.	.	.	.	G	40	8.333932	0.98764	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	5.95	5.95	0.96441	.	0.100905	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.3712	0.98891	0.0:0.0:1.0:0.0	.	.	.	.	X	320;320;320;201;313;201	.	ENSP00000332296:E313X	E	+	1	0	RARB	25610148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.038000	0.88943	2.822000	0.97130	0.655000	0.94253	GAA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt		0.468	RARB-201	KNOWN	basic	protein_coding	RARB	protein_coding		G	NM_000965, NM_016152	-		25635144	1	no_errors	ENST00000404969	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	25635144	G	T	25635144	4	4	241	1	0	0	0	0	0	1	0	0	13061	1175	41	3	959	3	RARB	3	25635144	Nonsense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09		25635144	172387286	7	19487											
USP4	7375	genome.wustl.edu	37	chr3	49362341	49362341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctacctgaccctggtataGcccagcatcctggacagtgt	9	14	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr3:49362341G>T	ENST00000265560.4	-	5	665	c.619C>A	c.(619-621)Cta>Ata	p.L207I	USP4_ENST00000351842.4_Missense_Mutation_p.L207I|USP4_ENST00000416417.1_Missense_Mutation_p.L207I|USP4_ENST00000415188.1_Missense_Mutation_p.L207I	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	207	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCCTGGTATAGCCCAGCATCC	0.542																																																	0								ENSG00000114316						155	157	156					3																	49362341		2203	4300	6503	USP4	SO:0001583	missense	0			-	HGNC	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.619C>A	3.37:g.49362341G>T	ENSP00000265560:p.Leu207Ile	Somatic	0	76	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.L207I	ENST00000265560.4	37	c.619	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651651	0.67472	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.39406	1.86;1.78;1.08	5.6	0.161	0.14977	.	0.161199	0.46145	D	0.000308	T	0.46814	0.1412	L	0.47716	1.5	0.44834	D	0.997844	P;B	0.39535	0.677;0.368	P;P	0.52481	0.7;0.504	T	0.40308	-0.9570	10	0.48119	T	0.1	-8.7681	11.2124	0.48806	0.3716:0.0:0.6284:0.0	.	207;207	Q13107-2;Q13107	.;UBP4_HUMAN	I	207	ENSP00000341028:L207I;ENSP00000265560:L207I;ENSP00000400623:L207I	ENSP00000265560:L207I	L	-	1	2	USP4	49337345	1.000000	0.71417	0.631000	0.29282	0.985000	0.73830	4.037000	0.57311	0.075000	0.16796	-0.258000	0.10820	CTA	-	NULL		0.542	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	protein_coding	OTTHUMT00000346069.1	G	NM_199443	-		49362341	-1	no_errors	ENST00000265560	ensembl	human	known	74_37	missense	SNP	0.943	T	T	49362341	G	T	49362341	3	4	241	1	0	0	0	0	1	0	0	0	17078	962	34	3	2344	3	USP4	3	49362341	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	23727197	49362341	148660089	8	19488											
MFSD10	10227	genome.wustl.edu	37	chr4	2934379	2934379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtcagcaacgatggccgtgGagaggctgacgttccctttg	15	10	1	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr4:2934379G>T	ENST00000329687.4	-	4	1013	c.479C>A	c.(478-480)tCc>tAc	p.S160Y	NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.S160Y|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.S160Y|MFSD10_ENST00000514800.1_Missense_Mutation_p.S160Y|MFSD10_ENST00000508221.1_Missense_Mutation_p.S160Y	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	160					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GATGGCCGTGGAGAGGCTGAC	0.637																																																	0								ENSG00000109736						83	93	90					4																	2934379		2203	4300	6503	MFSD10	SO:0001583	missense	0			-	HGNC	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.479C>A	4.37:g.2934379G>T	ENSP00000332646:p.Ser160Tyr	Somatic	0	41	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q07706	Missense_Mutation	SNP							pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S160Y	ENST00000329687.4	37	c.479	CCDS3365.1	4	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756012	0.49362	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	4.73	2.95	0.34219	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.151623	0.64402	N	0.000013	T	0.72669	0.3489	M	0.72894	2.215	0.32263	N	0.569941	D;D;D;D	0.64830	0.988;0.994;0.987;0.988	D;D;D;D	0.70227	0.953;0.968;0.968;0.953	T	0.79162	-0.1917	10	0.72032	D	0.01	-16.3675	13.6233	0.62149	0.0:0.4534:0.5465:0.0	.	160;160;160;160	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	Y	160	ENSP00000426907:S160Y;ENSP00000347619:S160Y;ENSP00000332646:S160Y;ENSP00000425757:S160Y;ENSP00000423402:S160Y	ENSP00000332646:S160Y	S	-	2	0	MFSD10	2904177	1.000000	0.71417	0.997000	0.53966	0.476000	0.33039	3.764000	0.55264	0.397000	0.25310	-0.302000	0.09304	TCC	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.637	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	protein_coding	OTTHUMT00000358072.2	G	NM_001120	-		2934379	-1	no_errors	ENST00000329687	ensembl	human	known	74_37	missense	SNP	1.000	T	T	2934379	G	T	2934379	3	4	241	1	0	0	0	0	1	0	0	0	9530	1174	41	3	924	3	MFSD10	4	2934379	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09		2934379	188219897	9	19489											
GRK4	2868	genome.wustl.edu	37	chr4	3015469	3015470	+	Frame_Shift_Ins	INS	-	-	A													gtatgcctgcaaaaagctacINSaaaaaaaaagaataaagaag					rs375862689|rs556199273	byFrequency	TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr4:3015469_3015470insA	ENST00000398052.4	+	8	998_999	c.655_656insA	c.(655-657)caafs	p.Q219fs	GRK4_ENST00000398051.4_Frame_Shift_Ins_p.Q187fs|GRK4_ENST00000504933.1_Frame_Shift_Ins_p.Q219fs|GRK4_ENST00000345167.6_Frame_Shift_Ins_p.Q187fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAAAGCTACAAAAAAAAAGA	0.391													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	4	0.000798722	0.003	0	5008	,	,		20780	0		0	False		,,,				2504	0																0								ENSG00000125388																																			GRK4	SO:0001589	frameshift_variant	0				HGNC		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.664dupA	4.37:g.3015478_3015478dupA	ENSP00000381129:p.Gln219fs	Somatic	0	50	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Frame_Shift_Ins	INS							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.R222fs	ENST00000398052.4	37	c.655_656	CCDS33946.1	4																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.391	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	protein_coding	OTTHUMT00000358176.2	-	NM_005307			3015470	1	no_errors	ENST00000398052	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	3015470	-	A	3015469	7	5	241	1	0	1	1	0	0	0	0	0	6793	479	17	0	685	0	GRK4	4	3015469	Frame_Shift_Ins	INS	-	TCGA-X9-A973-01A-11D-A387-09	81090	3015469	188138807	10	19490											
KIAA1211	57482	genome.wustl.edu	37	chr4	57180907	57180907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccaggcgcacctggaGgactggagggggcagctcag	20	10	1	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr4:57180907G>A	ENST00000504228.1	+	6	1344	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	KIAA1211_ENST00000264229.6_Silent_p.E413E|KIAA1211_ENST00000541073.1_Silent_p.E406E			Q6ZU35	K1211_HUMAN	KIAA1211	413	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCACCTGGAGGACTGGAGGG	0.662																																																	0								ENSG00000109265						16	20	18					4																	57180907		2004	4149	6153	KIAA1211	SO:0001819	synonymous_variant	0			-	HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1239G>A	4.37:g.57180907G>A		Somatic	0	131	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	31	68.04	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP							NULL	p.E413	ENST00000504228.1	37	c.1239	CCDS43230.1	4																																																																																			-	NULL		0.662	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	G	NM_020722	-		57180907	1	no_errors	ENST00000504228	ensembl	human	known	74_37	silent	SNP	0.000	A	A	57180907	G	A	57180907	2	1	241	1	0	0	0	0	0	0	0	1	8217	991	35	2		2	KIAA1211	4	57180907	Silent	SNP	G	TCGA-X9-A973-01A-11D-A387-09	54165438	57180907	133973369	11	19491											
BMP2K	55589	genome.wustl.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	9	16	2	0	rs376418550	byFrequency	TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																																	3	Substitution - Missense(3)	endometrium(2)|prostate(1)						ENSG00000138756						40	45	44					4																	79792085		2203	4300	6503	BMP2K	SO:0001583	missense	0			-	HGNC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His	Somatic	0	79	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	10.71	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q460H	ENST00000335016.5	37	c.1380	CCDS47083.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG	-	NULL		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	protein_coding		G	NM_017593	-		79792085	1	no_errors	ENST00000335016	ensembl	human	known	74_37	missense	SNP	1.000	C	C	79792085	G	C	79792085	3	2	241	1	0	0	0	0	1	0	0	0	1460	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	22611178	79792085	111362191	12	19492											
SPOCK3	50859	genome.wustl.edu	37	chr4	167983668	167983668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgaagggttttcctggactCcaagtgcggaaataatcatc	10	9	1	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr4:167983668C>A	ENST00000357154.3	-	4	356	c.219G>T	c.(217-219)tgG>tgT	p.W73C	SPOCK3_ENST00000357545.4_Missense_Mutation_p.W70C|SPOCK3_ENST00000506886.1_Missense_Mutation_p.W73C|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.W73C|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.W70C|SPOCK3_ENST00000502330.1_Missense_Mutation_p.W73C|SPOCK3_ENST00000421836.2_Missense_Mutation_p.W22C|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.W70C|SPOCK3_ENST00000512648.1_Missense_Mutation_p.W70C|SPOCK3_ENST00000510741.1_Missense_Mutation_p.W70C	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	73					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCCTGGACTCCAAGTGCGGA	0.289																																																	0								ENSG00000196104						62	65	64					4																	167983668		2200	4297	6497	SPOCK3	SO:0001583	missense	0			-	HGNC	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.219G>T	4.37:g.167983668C>A	ENSP00000349677:p.Trp73Cys	Somatic	0	97	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	80	135	37.21	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP							pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.W73C	ENST00000357154.3	37	c.219	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297367	0.60086	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000421836;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	1.41;1.44;1.44;1.41;1.41;1.41;1.4;1.44;1.11;2.17;0.76;0.7;0.7	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.69958	0.3169	M	0.77313	2.365	0.80722	D	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	0.91635	0.999;0.996;0.996;0.999;0.998;0.996	T	0.74121	-0.3767	10	0.56958	D	0.05	-11.9229	17.402	0.87463	0.0:1.0:0.0:0.0	.	22;82;70;73;70;73	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	C	73;70;70;73;73;73;70;70;22;70;70;70;73;73	ENSP00000349677:W73C;ENSP00000350153:W70C;ENSP00000425570:W70C;ENSP00000420920:W73C;ENSP00000423421:W73C;ENSP00000423606:W73C;ENSP00000426716:W70C;ENSP00000425502:W70C;ENSP00000411344:W22C;ENSP00000426177:W70C;ENSP00000423367:W70C;ENSP00000424168:W73C;ENSP00000425407:W73C	ENSP00000349677:W73C	W	-	3	0	SPOCK3	168220243	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.897000	0.63231	2.296000	0.77279	0.585000	0.79938	TGG	-	NULL		0.289	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	protein_coding	OTTHUMT00000364091.1	C		-		167983668	-1	no_errors	ENST00000357154	ensembl	human	known	74_37	missense	SNP	1.000	A	A	167983668	C	A	167983668	3	1	241	1	0	0	0	0	1	0	0	0	15088	856	30	3	1127	3	SPOCK3	4	167983668	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09	88191583	167983668	23170608	13	19493											
PCDHB12	56124	genome.wustl.edu	37	chr5	140588657	140588657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcgaggtgagtgagctgTcttcgcggggggctcgggtg	20	8	1	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr5:140588657T>C	ENST00000239450.2	+	1	367	c.178T>C	c.(178-180)Tct>Cct	p.S60P	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	60	Cadherin 1. {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)			GAGTGAGCTGTCTTCGCGGGG	0.512																																																	0								ENSG00000120328						90	100	97					5																	140588657		2203	4300	6503	PCDHB12	SO:0001583	missense	0			-	HGNC	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.178T>C	5.37:g.140588657T>C	ENSP00000239450:p.Ser60Pro	Somatic	0	74	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	46	38.67	B4DDU1	Missense_Mutation	SNP							pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S60P	ENST00000239450.2	37	c.178	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538995	0.27475	.	.	ENSG00000120328	ENST00000239450	T	0.39997	1.05	4.25	1.66	0.24008	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.50735	0.1633	M	0.69463	2.115	0.09310	N	1	P	0.45531	0.86	P	0.57009	0.811	T	0.43114	-0.9411	9	0.72032	D	0.01	.	2.4035	0.04407	0.1437:0.0835:0.2972:0.4756	.	60	Q9Y5F1	PCDBC_HUMAN	P	60	ENSP00000239450:S60P	ENSP00000239450:S60P	S	+	1	0	PCDHB12	140568841	0.000000	0.05858	0.001000	0.08648	0.349000	0.29174	-2.176000	0.01262	0.114000	0.18032	0.459000	0.35465	TCT	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.512	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	protein_coding	OTTHUMT00000251815.2	T	NM_018932	-		140588657	1	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	SNP	0.006	C	C	140588657	T	C	140588657	3	2	241	1	0	0	0	0	1	0	0	0	11539	1667	58	5	180	5	PCDHB12	5	140588657	Missense_Mutation	SNP	T	TCGA-X9-A973-01A-11D-A387-09		140588657	40326603	14	19494											
DUSP1	1843	genome.wustl.edu	37	chr5	172195849	172195849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagggatggagacggggaaGttgaacacggtggtggtgga	20	4	0	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr5:172195849G>T	ENST00000239223.3	-	4	1262	c.1020C>A	c.(1018-1020)aaC>aaA	p.N340K	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	340	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)		AGACGGGGAAGTTGAACACGG	0.632																																																	0								ENSG00000120129						112	107	109					5																	172195849		2203	4300	6503	DUSP1	SO:0001583	missense	0			-	HGNC	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.1020C>A	5.37:g.172195849G>T	ENSP00000239223:p.Asn340Lys	Somatic	0	66	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DQL9|Q2V508	Missense_Mutation	SNP							pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.N340K	ENST00000239223.3	37	c.1020	CCDS4380.1	5	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419195	0.62622	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02121	4.44	5.1	4.21	0.49690	.	0.092877	0.64402	D	0.000001	T	0.04272	0.0118	L	0.36672	1.1	0.52501	D	0.999958	D;D	0.54964	0.969;0.969	P;P	0.53593	0.73;0.638	T	0.48222	-0.9054	10	0.51188	T	0.08	.	9.4036	0.38449	0.2155:0.0:0.7845:0.0	.	340;297	P28562;B4DNT2	DUS1_HUMAN;.	K	340;313;275	ENSP00000239223:N340K	ENSP00000239223:N340K	N	-	3	2	DUSP1	172128455	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.925000	0.40074	2.522000	0.85027	0.655000	0.94253	AAC	-	pirsf_MKP		0.632	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP1	protein_coding	OTTHUMT00000252943.3	G	NM_004417	-		172195849	-1	no_errors	ENST00000239223	ensembl	human	known	74_37	missense	SNP	1.000	T	T	172195849	G	T	172195849	3	4	241	1	0	0	0	0	1	0	0	0	4811	1020	36	3	87	3	DUSP1	5	172195849	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	31607192	172195849	8719411	15	19495											
FGFR4	2264	genome.wustl.edu	37	chr5	176524620	176524620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgattctgtcttcagccaCgaccccctgccattgggatc	9	15	3	0	rs199622668		TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr5:176524620C>T	ENST00000292408.4	+	18	2597	c.2352C>T	c.(2350-2352)caC>caT	p.H784H	FGFR4_ENST00000292410.3_Silent_p.H744H|FGFR4_ENST00000393648.2_Silent_p.H716H|FGFR4_ENST00000393637.1_Silent_p.H744H|FGFR4_ENST00000502906.1_Silent_p.H784H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	784					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	TCTTCAGCCACGACCCCCTGC	0.637										TSP Lung(9;0.080)			C|||	1	0.000199681	0	0	5008	,	,		18598	0.001		0	False		,,,				2504	0																0								ENSG00000160867						103	78	86					5																	176524620		2203	4300	6503	FGFR4	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2352C>T	5.37:g.176524620C>T		Somatic	0	44	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	11	60.71	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP							pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H784	ENST00000292408.4	37	c.2352	CCDS4410.1	5																																																																																			-	pirsf_FGF_rcpt_fam		0.637	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	C		rs199622668		176524620	1	no_errors	ENST00000292408	ensembl	human	known	74_37	silent	SNP	0.977	T	T	176524620	C	T	176524620	2	4	241	1	0	0	0	0	0	0	0	1	5870	535	19	1		1	FGFR4	5	176524620	Silent	SNP	C	TCGA-X9-A973-01A-11D-A387-09	4328771	176524620	4390640	16	19496											
TRIM27	5987	genome.wustl.edu	37	chr6	28888004	28888004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaacaatcttctccctctCcatctgggttaggctctatg	6	14	5	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr6:28888004C>T	ENST00000377199.3	-	3	888	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.E178K	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	178					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTCTCCCTCTCCATCTGGGTT	0.507			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0								ENSG00000204713						130	127	128					6																	28888004		2203	4300	6503	TRIM27	SO:0001583	missense	0			-	HGNC	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.532G>A	6.37:g.28888004C>T	ENSP00000366404:p.Glu178Lys	Somatic	0	35	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP							pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E178K	ENST00000377199.3	37	c.532	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742513	0.30865	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.63580	0.47;-0.05	4.04	4.04	0.47022	.	0.000000	0.48767	D	0.000162	T	0.32133	0.0819	N	0.20807	0.61	0.29655	N	0.843681	P;P;P	0.41450	0.716;0.75;0.664	B;B;B	0.44044	0.439;0.373;0.155	T	0.09640	-1.0665	10	0.28530	T	0.3	.	9.4037	0.38449	0.2123:0.7877:0.0:0.0	.	245;178;178	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	K	178	ENSP00000366404:E178K;ENSP00000366399:E178K	ENSP00000366399:E178K	E	-	1	0	TRIM27	28995983	0.055000	0.20627	1.000000	0.80357	0.894000	0.52154	0.163000	0.16520	2.530000	0.85305	0.655000	0.94253	GAG	-	NULL		0.507	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	protein_coding	OTTHUMT00000076442.2	C	NM_030950	-		28888004	-1	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	SNP	1.000	T	T	28888004	C	T	28888004	3	4	241	1	0	0	0	0	1	0	0	0	16508	864	30	2	1033	2	TRIM27	6	28888004	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09		28888004	142227063	17	19497											
GPRC6A	222545	genome.wustl.edu	37	chr6	117127901	117127901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaaggcaaaccctacaaCtttgccaatctttttaacat	3	11	2	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr6:117127901C>A	ENST00000310357.3	-	3	988	c.967G>T	c.(967-969)Gtt>Ttt	p.V323F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.V323F|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	323					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)			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)		AACCCTACAACTTTGCCAATC	0.373																																																	0								ENSG00000173612						109	107	107					6																	117127901		2203	4298	6501	GPRC6A	SO:0001583	missense	0			-	HGNC	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.967G>T	6.37:g.117127901C>A	ENSP00000309493:p.Val323Phe	Somatic	0	35	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	19	45.71	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP							pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.V323F	ENST00000310357.3	37	c.967	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143068	0.57044	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.85955	-2.05;-2.05	5.48	1.66	0.24008	Extracellular ligand-binding receptor (1);	0.279335	0.25091	N	0.033218	D	0.86752	0.6008	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.74348	0.983;0.921	D	0.86104	0.1558	10	0.87932	D	0	.	9.3736	0.38270	0.0:0.7038:0.0:0.2962	.	323;323	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	F	323	ENSP00000309493:V323F;ENSP00000357537:V323F	ENSP00000309493:V323F	V	-	1	0	GPRC6A	117234594	0.096000	0.21769	0.999000	0.59377	0.997000	0.91878	0.332000	0.19751	0.117000	0.18138	0.650000	0.86243	GTT	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.373	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	C		-		117127901	-1	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	SNP	0.995	A	A	117127901	C	A	117127901	3	1	241	1	0	0	0	0	1	0	0	0	6730	565	20	3	1829	3	GPRC6A	6	117127901	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09	88239897	117127901	53987166	18	19498											
ULBP1	80329	genome.wustl.edu	37	chr6	150290442	150290442	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatttcactgggggattgtAagatgtggcttgaagaattt	13	3	1	4			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr6:150290442A>T	ENST00000229708.3	+	3	614	c.571A>T	c.(571-573)Aag>Tag	p.K191*		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	191	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GGGGGATTGTAAGATGTGGCT	0.453																																																	0								ENSG00000111981						100	102	101					6																	150290442		2203	4300	6503	ULBP1	SO:0001587	stop_gained	0			-	HGNC	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.571A>T	6.37:g.150290442A>T	ENSP00000229708:p.Lys191*	Somatic	0	29	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q5VY81|Q8IZW3|Q8IZX6	Nonsense_Mutation	SNP							pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.K191*	ENST00000229708.3	37	c.571	CCDS5223.1	6	.	.	.	.	.	.	.	.	.	.	a	12.70	2.017498	0.35606	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	.	.	.	2.13	-2.73	0.05950	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	0.1821	0.00124	0.364:0.2387:0.163:0.2343	.	.	.	.	X	191	.	ENSP00000229708:K191X	K	+	1	0	ULBP1	150332135	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.614000	0.05604	-0.590000	0.05866	0.164000	0.16699	AAG	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.453	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP1	protein_coding	OTTHUMT00000042677.2	A		-		150290442	1	no_errors	ENST00000229708	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	150290442	A	T	150290442	4	4	241	1	0	0	0	0	0	1	0	0	16979	363	13	5	581	5	ULBP1	6	150290442	Nonsense_Mutation	SNP	A	TCGA-X9-A973-01A-11D-A387-09	33162541	150290442	20824625	19	19499											
PKD1L1	168507	genome.wustl.edu	37	chr7	47945469	47945469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataccagacagtcatgctgTgccaagcctggctgtcaccc	9	14	2	1	rs200709779		TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr7:47945469T>C	ENST00000289672.2	-	10	1543	c.1493A>G	c.(1492-1494)cAc>cGc	p.H498R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	498					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCATGCTGTGCCAAGCCTG	0.423													T|||	1	0.000199681	8e-04	0	5008	,	,		19256	0		0	False		,,,				2504	0																0								ENSG00000158683						71	68	69					7																	47945469		2203	4300	6503	PKD1L1	SO:0001583	missense	0			GMAF=0	HGNC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1493A>G	7.37:g.47945469T>C	ENSP00000289672:p.His498Arg	Somatic	0	60	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	97	37.01	Q6UWK1	Missense_Mutation	SNP							pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.H498R	ENST00000289672.2	37	c.1493	CCDS34633.1	7	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	5.954	0.359955	0.11296	.	.	ENSG00000158683	ENST00000289672	T	0.18502	2.21	5.1	-8.04	0.01110	.	3.244950	0.00766	N	0.001172	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	10	0.12430	T	0.62	1.9553	2.638	0.04963	0.1389:0.1959:0.1658:0.4994	.	498	Q8TDX9	PK1L1_HUMAN	R	498	ENSP00000289672:H498R	ENSP00000289672:H498R	H	-	2	0	PKD1L1	47911994	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-2.334000	0.01107	-2.052000	0.00902	-1.330000	0.01273	CAC	-	NULL		0.423	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	protein_coding	OTTHUMT00000340974.1	T	NM_138295	rs200709779		47945469	-1	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	SNP	0.000	C	C	47945469	T	C	47945469	3	2	241	1	0	0	0	0	1	0	0	0	11966	1696	59	5	7248	5	PKD1L1	7	47945469	Missense_Mutation	SNP	T	TCGA-X9-A973-01A-11D-A387-09		47945469	111193194	20	19500											
KRBA1	84626	genome.wustl.edu	37	chr7	149430495	149430495	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggagaagctggatcggctcGccacagcgctggcaggcctg	16	13	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr7:149430495G>C	ENST00000485033.2	+	15	2269	c.2269G>C	c.(2269-2271)Gcc>Ccc	p.A757P	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.A817P|KRBA1_ENST00000319551.8_Missense_Mutation_p.A757P			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	818	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGATCGGCTCGCCACAGCGCT	0.697																																																	0								ENSG00000133619						8	11	10					7																	149430495		2020	4129	6149	KRBA1	SO:0001583	missense	0			-	HGNC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2269G>C	7.37:g.149430495G>C	ENSP00000420112:p.Ala757Pro	Somatic	0	61	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	37	35.59	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP							NULL	p.A817P	ENST00000485033.2	37	c.2449		7	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622337	0.28889	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.38722	1.13;1.12;1.12	4.89	1.56	0.23342	.	0.376720	0.19608	N	0.110207	T	0.52041	0.1710	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.31943	-0.9925	9	0.35671	T	0.21	-4.177	6.3012	0.21113	0.0982:0.0:0.5665:0.3353	.	757;818	E7ENE9;A5PL33	.;KRBA1_HUMAN	P	817;757;757	ENSP00000255992:A817P;ENSP00000317165:A757P;ENSP00000420112:A757P	ENSP00000255992:A817P	A	+	1	0	KRBA1	149061428	0.000000	0.05858	0.002000	0.10522	0.110000	0.19582	0.189000	0.17037	0.454000	0.26884	0.467000	0.42956	GCC	-	NULL		0.697	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	protein_coding	OTTHUMT00000349841.3	G	NM_032534	-		149430495	1	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	SNP	0.000	C	C	149430495	G	C	149430495	3	2	241	1	0	0	0	0	1	0	0	0	8441	1087	38	4	2513	4	KRBA1	7	149430495	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	101485026	149430495	9708168	21	19501											
ZCCHC7	84186	genome.wustl.edu	37	chr9	37357249	37357250	+	Frame_Shift_Ins	INS	-	-	A													ttatttcttattaagcagagINSaaaaaaaaagtcttaagccg					rs1051465		TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr9:37357249_37357250insA	ENST00000336755.5	+	9	1722_1723	c.1616_1617insA	c.(1615-1620)agaaaafs	p.RK539fs	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.RK249fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATTAAGCAGAGAAAAAAAAAGT	0.411																																																	0								ENSG00000147905																																			ZCCHC7	SO:0001589	frameshift_variant	0				HGNC	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1625dupA	9.37:g.37357258_37357258dupA	ENSP00000337839:p.Arg539fs	Somatic	0	14	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS							pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.K543fs	ENST00000336755.5	37	c.1616_1617	CCDS6608.2	9																																																																																			-	NULL		0.411	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC7	protein_coding	OTTHUMT00000052453.2	-	NM_032226			37357250	1	no_errors	ENST00000336755	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	37357250	-	A	37357249	7	5	241	1	0	1	1	0	0	0	0	0	17600	942	33	0	1646	0	ZCCHC7	9	37357249	Frame_Shift_Ins	INS	-	TCGA-X9-A973-01A-11D-A387-09		37357249	103856182	22	19502											
FAM189A2	9413	genome.wustl.edu	37	chr9	72000789	72000789	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccctggtgcgtcctatcaGaagccggagagccctcccac	10	16	1	2	rs11138396	byFrequency	TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr9:72000789G>T	ENST00000257515.8	+	9	1202	c.782G>T	c.(781-783)aGa>aTa	p.R261I	FAM189A2_ENST00000455972.1_Missense_Mutation_p.R261I|FAM189A2_ENST00000377216.3_5'Flank|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Missense_Mutation_p.R96I	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	261			R -> K (in dbSNP:rs11138396).			integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CGTCCTATCAGAAGCCGGAGA	0.502																																																	0								ENSG00000135063						86	66	73					9																	72000789		2203	4300	6503	FAM189A2	SO:0001583	missense	0			-	HGNC	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.782G>T	9.37:g.72000789G>T	ENSP00000257515:p.Arg261Ile	Somatic	0	83	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP							pfam_CD20-like	p.R261I	ENST00000257515.8	37	c.782	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187084	0.38609	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225	T;T;T	0.32515	2.48;2.48;1.45	5.93	5.02	0.67125	.	0.696230	0.14493	N	0.316209	T	0.29389	0.0732	L	0.57536	1.79	0.09310	N	0.999997	P;B	0.45078	0.85;0.001	B;B	0.40285	0.325;0.001	T	0.22591	-1.0212	10	0.37606	T	0.19	-4.1172	8.659	0.34081	0.0:0.2698:0.5955:0.1347	.	96;261	F2Z2T9;Q15884	.;F1892_HUMAN	I	261;261;96;260	ENSP00000395675:R261I;ENSP00000257515:R261I;ENSP00000304435:R96I	ENSP00000257515:R261I	R	+	2	0	FAM189A2	71190609	0.001000	0.12720	0.012000	0.15200	0.214000	0.24535	1.130000	0.31393	2.826000	0.97356	0.655000	0.94253	AGA	-	NULL		0.502	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	protein_coding	OTTHUMT00000052576.2	G	NM_004816	-		72000789	1	no_errors	ENST00000257515	ensembl	human	known	74_37	missense	SNP	0.003	T	T	72000789	G	T	72000789	3	4	241	1	0	0	0	0	1	0	0	0	5518	942	33	3	812	3	FAM189A2	9	72000789	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	34643540	72000789	69212642	23	19503											
NOTCH1	4851	genome.wustl.edu	37	chr9	139409819	139409819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtcgcaggggctgctgGcacagtcatccaggttgatc	14	12	1	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr9:139409819G>T	ENST00000277541.6	-	12	2012	c.1937C>A	c.(1936-1938)gCc>gAc	p.A646D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	646	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GGGGCTGCTGGCACAGTCATC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0								ENSG00000148400						71	80	77					9																	139409819		2137	4250	6387	NOTCH1	SO:0001583	missense	0			-	HGNC	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.1937C>A	9.37:g.139409819G>T	ENSP00000277541:p.Ala646Asp	Somatic	0	79	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q59ED8|Q5SXM3	Missense_Mutation	SNP							pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.A646D	ENST00000277541.6	37	c.1937	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151414	0.57151	.	.	ENSG00000148400	ENST00000277541	D	0.87334	-2.24	4.92	4.03	0.46877	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.206476	0.41294	U	0.000901	D	0.84170	0.5413	L	0.31752	0.955	0.46317	D	0.998984	P	0.39131	0.661	P	0.47915	0.561	T	0.80843	-0.1201	10	0.30078	T	0.28	.	12.2799	0.54757	0.0826:0.0:0.9174:0.0	.	646	P46531	NOTC1_HUMAN	D	646	ENSP00000277541:A646D	ENSP00000277541:A646D	A	-	2	0	NOTCH1	138529640	1.000000	0.71417	0.993000	0.49108	0.622000	0.37654	5.695000	0.68279	1.058000	0.40530	-0.251000	0.11542	GCC	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	G	NM_017617	-		139409819	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	SNP	1.000	T	T	139409819	G	T	139409819	3	4	241	1	0	0	0	0	1	0	0	0	10549	1203	42	3	5822	3	NOTCH1	9	139409819	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	67409030	139409819	1803612	24	19504											
FBXW5	54461	genome.wustl.edu	37	chr9	139835416	139835417	+	Frame_Shift_Del	DEL	GC	GC	-													gcaagccaggagaagaaggtGcgaggccgtgggcgaggtgc					rs538792537		TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr9:139835416_139835417delGC	ENST00000325285.3	-	9	1743_1744	c.1664_1665delGC	c.(1663-1665)cgcfs	p.R555fs	RP11-229P13.25_ENST00000569497.1_RNA|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	555					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGAAGAAGGTGCGAGGCCGTGG	0.673																																																	0								ENSG00000159069																																			FBXW5	SO:0001589	frameshift_variant	0				HGNC	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1664_1665delGC	9.37:g.139835416_139835417delGC	ENSP00000313034:p.Arg555fs	Somatic	0	79	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Frame_Shift_Del	DEL							pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R555fs	ENST00000325285.3	37	c.1665_1664	CCDS7014.1	9																																																																																			-	NULL		0.673	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	protein_coding	OTTHUMT00000055227.1	GC	NM_018998			139835417	-1	no_errors	ENST00000325285	ensembl	human	known	74_37	frame_shift_del	DEL	0.927:0.986	-	-	139835417	GC	-	139835416	7	5	241	1	0	1	0	1	0	0	0	0	5770	1306	46	0	39	0	FBXW5	9	139835416	Frame_Shift_Del	DEL	GC	TCGA-X9-A973-01A-11D-A387-09	425597	139835416	1378015	25	19505											
ANKRD16	54522	genome.wustl.edu	37	chr10	5929889	5929889	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagtgagcaggtactggagGatcagagggtcgccttctcg	15	9	2	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr10:5929889G>T	ENST00000380094.5	-	2	999	c.456C>A	c.(454-456)atC>atA	p.I152I	ANKRD16_ENST00000380092.4_Silent_p.I152I|FBXO18_ENST00000397269.3_5'Flank|ANKRD16_ENST00000191063.8_Silent_p.I152I|FBXO18_ENST00000362091.4_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	152										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GGTACTGGAGGATCAGAGGGT	0.532																																																	0								ENSG00000134461						130	115	120					10																	5929889		2203	4300	6503	ANKRD16	SO:0001819	synonymous_variant	0			-	HGNC	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.456C>A	10.37:g.5929889G>T		Somatic	0	36	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A6NEF0|F8WEI4|Q9NT01	Silent	SNP							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I152	ENST00000380094.5	37	c.456	CCDS31136.1	10																																																																																			-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.532	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD16	protein_coding	OTTHUMT00000046611.2	G	XM_166138	-		5929889	-1	no_errors	ENST00000380092	ensembl	human	known	74_37	silent	SNP	1.000	T	T	5929889	G	T	5929889	2	4	241	1	0	0	0	0	0	0	0	1	645	1164	41	3		3	ANKRD16	10	5929889	Silent	SNP	G	TCGA-X9-A973-01A-11D-A387-09		5929889	129604858	26	19506											
SUFU	51684	genome.wustl.edu	37	chr10	104357026	104357026	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatctgcatcggcacaCagccccggcgactctctggc	12	16	2	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr10:104357026C>T	ENST00000369902.3	+	7	1052	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Nonsense_Mutation_p.Q296*|SUFU_ENST00000423559.2_Nonsense_Mutation_p.Q296*	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	296					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CATCGGCACACAGCCCCGGCG	0.622			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0								ENSG00000107882						70	66	68					10																	104357026		2203	4300	6503	SUFU	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.886C>T	10.37:g.104357026C>T	ENSP00000358918:p.Gln296*	Somatic	0	56	0	1381	0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Nonsense_Mutation	SNP							pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk	p.Q296*	ENST00000369902.3	37	c.886	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.590570	0.97688	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-22.2906	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	296	.	ENSP00000358915:Q296X	Q	+	1	0	SUFU	104347016	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	CAG	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_euk		0.622	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	protein_coding	OTTHUMT00000050089.1	C	NM_016169	-		104357026	1	no_errors	ENST00000369902	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	104357026	C	T	104357026	4	4	241	1	0	0	0	0	0	1	0	0	15375	479	17	2	912	2	SUFU	10	104357026	Nonsense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09	98427137	104357026	31177721	27	19507											
INSC	387755	genome.wustl.edu	37	chr11	15243108	15243108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctgcggctgtggtggCccaggtcacctccccacacc	13	16	1	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr11:15243108C>T	ENST00000379554.3	+	8	1092	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.A302V|INSC_ENST00000530161.1_Missense_Mutation_p.A302V|INSC_ENST00000424273.1_Missense_Mutation_p.A260V|INSC_ENST00000525218.1_Missense_Mutation_p.A260V|INSC_ENST00000528567.1_Missense_Mutation_p.A302V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	349					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCTGTGGTGGCCCAGGTCACC	0.632																																																	0								ENSG00000188487						46	52	50					11																	15243108		2132	4229	6361	INSC	SO:0001583	missense	0			-	HGNC	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1046C>T	11.37:g.15243108C>T	ENSP00000368872:p.Ala349Val	Somatic	0	57	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	17	34.62	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP							superfamily_ARM-type_fold,smart_Armadillo	p.A349V	ENST00000379554.3	37	c.1046	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.490311	0.96339	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.51574	0.73;0.73;0.7;0.73;0.73;0.7	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.63843	1.955	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;0.998;0.998;0.998	T	0.70238	-0.4927	10	0.72032	D	0.01	-21.8971	19.3063	0.94164	0.0:1.0:0.0:0.0	.	337;260;302;349	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	V	349;302;260;302;302;260	ENSP00000368872:A349V;ENSP00000368874:A302V;ENSP00000389161:A260V;ENSP00000435022:A302V;ENSP00000436194:A302V;ENSP00000436113:A260V	ENSP00000368872:A349V	A	+	2	0	INSC	15199684	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.330000	0.79181	2.552000	0.86080	0.655000	0.94253	GCC	-	superfamily_ARM-type_fold,smart_Armadillo		0.632	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	protein_coding	OTTHUMT00000386590.1	C	NM_001031853	-		15243108	1	no_errors	ENST00000379554	ensembl	human	known	74_37	missense	SNP	1.000	T	T	15243108	C	T	15243108	3	4	241	1	0	0	0	0	1	0	0	0	7766	739	26	2	1076	2	INSC	11	15243108	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09		15243108	119763408	28	19508											
OR8K3	219473	genome.wustl.edu	37	chr11	56086342	56086342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctccctttgttaccttTgctttgttcaaatacacatg	5	11	2	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr11:56086342T>G	ENST00000312711.1	+	1	560	c.560T>G	c.(559-561)tTg>tGg	p.L187W		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	187						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGTTACCTTTGCTTTGTTCA	0.333																																																	0								ENSG00000181689						99	99	99					11																	56086342		2201	4296	6497	OR8K3	SO:0001583	missense	0			-	HGNC	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.560T>G	11.37:g.56086342T>G	ENSP00000323555:p.Leu187Trp	Somatic	0	70	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	Q6IFC4	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L187W	ENST00000312711.1	37	c.560	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294968	0.23564	.	.	ENSG00000181689	ENST00000312711	T	0.00414	7.52	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000413	T	0.02455	0.0075	H	0.99197	4.465	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28522	-1.0041	10	0.87932	D	0	.	10.1964	0.43056	0.1486:0.0:0.0:0.8514	.	187	Q8NH51	OR8K3_HUMAN	W	187	ENSP00000323555:L187W	ENSP00000323555:L187W	L	+	2	0	OR8K3	55842918	0.773000	0.28580	0.058000	0.19502	0.002000	0.02628	5.354000	0.66040	2.036000	0.60181	0.467000	0.42956	TTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.333	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	protein_coding	OTTHUMT00000391602.1	T	NM_001005202	-		56086342	1	no_errors	ENST00000312711	ensembl	human	known	74_37	missense	SNP	0.012	G	G	56086342	T	G	56086342	3	3	241	1	0	0	0	0	1	0	0	0	11246	1821	63	5	562	5	OR8K3	11	56086342	Missense_Mutation	SNP	T	TCGA-X9-A973-01A-11D-A387-09	40843234	56086342	78920174	29	19509											
GANAB	23193	genome.wustl.edu	37	chr11	62396402	62396402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccaagtgggcatgtgcccgGaagaatggctggtaagcacc	14	10	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr11:62396402G>T	ENST00000356638.3	-	17	2035	c.2019C>A	c.(2017-2019)ttC>ttA	p.F673L	GANAB_ENST00000534779.1_Missense_Mutation_p.F581L|GANAB_ENST00000346178.4_Missense_Mutation_p.F695L|GANAB_ENST00000540933.1_Missense_Mutation_p.F576L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	673					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CATGTGCCCGGAAGAATGGCT	0.547																																					Melanoma(23;1005 1074 15747 18937)												0								ENSG00000089597						132	127	129					11																	62396402		2202	4299	6501	GANAB	SO:0001583	missense	0			-	HGNC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2019C>A	11.37:g.62396402G>T	ENSP00000349053:p.Phe673Leu	Somatic	0	37	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP							pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom	p.F695L	ENST00000356638.3	37	c.2085	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583031	0.65992	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.19	2.85	0.33270	Glycoside hydrolase, superfamily (1);	0.107074	0.64402	D	0.000006	D	0.91630	0.7355	M	0.87097	2.86	0.52099	D	0.999946	P;P;B;B	0.36974	0.576;0.576;0.168;0.083	B;B;B;B	0.44163	0.443;0.443;0.174;0.075	D	0.90634	0.4569	10	0.72032	D	0.01	-14.4677	6.5398	0.22375	0.3568:0.0:0.6432:0.0	.	559;581;673;695	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	695;673;581;576	ENSP00000340466:F695L;ENSP00000349053:F673L;ENSP00000435306:F581L;ENSP00000442962:F576L	ENSP00000340466:F695L	F	-	3	2	GANAB	62152978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.205000	0.51090	1.085000	0.41206	0.655000	0.94253	TTC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	protein_coding	OTTHUMT00000395689.1	G	NM_198334	-		62396402	-1	no_errors	ENST00000346178	ensembl	human	known	74_37	missense	SNP	1.000	T	T	62396402	G	T	62396402	3	4	241	1	0	0	0	0	1	0	0	0	6235	1165	41	3	847	3	GANAB	11	62396402	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	6310060	62396402	72610114	30	19510											
ENDOU	8909	genome.wustl.edu	37	chr12	48110109	48110109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggaggaagctgtagagcTccttcatgactgctgtcttc	12	9	2	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr12:48110109T>G	ENST00000422538.3	-	6	847	c.725A>C	c.(724-726)gAg>gCg	p.E242A	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.E179A|ENDOU_ENST00000542202.1_Missense_Mutation_p.E8A|ENDOU_ENST00000229003.3_Missense_Mutation_p.E201A	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	242					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GCTGTAGAGCTCCTTCATGAC	0.622											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000111405						123	112	116					12																	48110109		2203	4300	6503	ENDOU	SO:0001583	missense	0			-	HGNC	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.725A>C	12.37:g.48110109T>G	ENSP00000397679:p.Glu242Ala	Somatic	0	39	0	952	0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	16	48.48	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP							pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E201A	ENST00000422538.3	37	c.602	CCDS53785.1	12	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142794	0.57044	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000542202;ENST00000545824	T;T	0.30714	1.52;1.53	5.63	4.41	0.53225	.	0.134989	0.64402	D	0.000003	T	0.34832	0.0911	L	0.42245	1.32	0.47584	D	0.999464	P;P;B;P	0.45986	0.852;0.87;0.387;0.73	P;P;P;B	0.54924	0.477;0.764;0.464;0.397	T	0.04708	-1.0932	10	0.07990	T	0.79	-19.8236	11.6585	0.51332	0.0:0.0:0.148:0.852	.	179;8;242;201	P21128-3;B7Z7N4;P21128;P21128-2	.;.;ENDOU_HUMAN;.	A	201;242;8;179	ENSP00000229003:E201A;ENSP00000397679:E242A	ENSP00000229003:E201A	E	-	2	0	ENDOU	46396376	1.000000	0.71417	0.969000	0.41365	0.968000	0.65278	4.530000	0.60595	2.270000	0.75569	0.460000	0.39030	GAG	-	pfam_Endoribonuclease_XendoU		0.622	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENDOU	protein_coding	OTTHUMT00000405352.1	T	NM_006025.2	-		48110109	-1	no_errors	ENST00000229003	ensembl	human	known	74_37	missense	SNP	1.000	G	G	48110109	T	G	48110109	3	3	241	1	0	0	0	0	1	0	0	0	5118	1551	54	5	527	5	ENDOU	12	48110109	Missense_Mutation	SNP	T	TCGA-X9-A973-01A-11D-A387-09		48110109	85741786	31	19511											
DNAH10	196385	genome.wustl.edu	37	chr12	124358165	124358165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggatatccaaagaaatttaGaagcaaatgtggaaaagcga	10	4	0	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr12:124358165G>C	ENST00000409039.3	+	45	7517	c.7492G>C	c.(7492-7494)Gaa>Caa	p.E2498Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2498	AAA 3. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAAATTTAGAAGCAAATGT	0.448																																																	0								ENSG00000197653						73	68	70					12																	124358165		1906	4134	6040	DNAH10	SO:0001583	missense	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7492G>C	12.37:g.124358165G>C	ENSP00000386770:p.Glu2498Gln	Somatic	0	92	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	41	40.58	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.E2498Q	ENST00000409039.3	37	c.7492	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675348	0.88445	.	.	ENSG00000197653	ENST00000409039	T	0.49139	0.79	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000001	T	0.74906	0.3778	M	0.90425	3.115	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.79581	-0.1744	10	0.59425	D	0.04	.	19.4169	0.94704	0.0:0.0:1.0:0.0	.	2498	Q8IVF4	DYH10_HUMAN	Q	2498	ENSP00000386770:E2498Q	ENSP00000386770:E2498Q	E	+	1	0	DNAH10	122924118	1.000000	0.71417	0.243000	0.24186	0.961000	0.63080	9.808000	0.99193	2.599000	0.87857	0.561000	0.74099	GAA	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	G		-		124358165	1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124358165	G	C	124358165	3	2	241	1	0	0	0	0	1	0	0	0	4600	943	33	4	7670	4	DNAH10	12	124358165	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	76248056	124358165	9493730	32	19512											
SYT16	83851	genome.wustl.edu	37	chr14	62567269	62567269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcacgttgatgatttcCgtttataacaggcgtactat	9	7	1	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr14:62567269C>T	ENST00000430451.2	+	6	1979	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	594	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGATGATTTCCGTTTATAACA	0.502																																																	0								ENSG00000139973						101	98	99					14																	62567269		2001	4168	6169	SYT16	SO:0001819	synonymous_variant	0			-	HGNC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1782C>T	14.37:g.62567269C>T		Somatic	0	79	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	15	69.39	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP							pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S594	ENST00000430451.2	37	c.1782	CCDS45121.1	14																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	protein_coding	OTTHUMT00000411700.1	C	NM_031914	-		62567269	1	no_errors	ENST00000430451	ensembl	human	novel	74_37	silent	SNP	0.929	T	T	62567269	C	T	62567269	2	4	241	1	0	0	0	0	0	0	0	1	15479	639	23	1		1	SYT16	14	62567269	Silent	SNP	C	TCGA-X9-A973-01A-11D-A387-09		62567269	44782271	33	19513											
KCNH5	27133	genome.wustl.edu	37	chr14	63269288	63269288	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctctcatgtccttgggacaGatggagaggacctaaagaag	13	8	1	3			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr14:63269288G>C	ENST00000322893.7	-	9	1849	c.1581C>G	c.(1579-1581)atC>atG	p.I527M	KCNH5_ENST00000394968.1_Missense_Mutation_p.I469M|KCNH5_ENST00000420622.2_Missense_Mutation_p.I527M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	527					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)			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)		CCTTGGGACAGATGGAGAGGA	0.428																																																	0								ENSG00000140015						37	39	38					14																	63269288		2203	4300	6503	KCNH5	SO:0001583	missense	0			-	HGNC	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.1581C>G	14.37:g.63269288G>C	ENSP00000321427:p.Ile527Met	Somatic	0	24	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	6	64.71	C9JP98	Missense_Mutation	SNP							pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.I527M	ENST00000322893.7	37	c.1581	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812984	0.32053	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96745	-4.11;-4.11;-4.11	5.35	2.51	0.30379	Cyclic nucleotide-binding-like (1);	0.050763	0.85682	D	0.000000	D	0.92932	0.7751	L	0.29908	0.895	0.80722	D	1	P;P;P	0.48016	0.531;0.531;0.904	B;B;P	0.49561	0.382;0.269;0.615	D	0.89179	0.3542	10	0.35671	T	0.21	.	5.9722	0.19359	0.3125:0.0:0.5575:0.1301	.	469;527;527	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	M	527;527;469	ENSP00000321427:I527M;ENSP00000395439:I527M;ENSP00000378419:I469M	ENSP00000321427:I527M	I	-	3	3	KCNH5	62339041	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.033000	0.30191	0.771000	0.33359	-0.244000	0.11960	ATC	-	superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_EAG		0.428	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	G	NM_139318	-		63269288	-1	no_errors	ENST00000322893	ensembl	human	known	74_37	missense	SNP	1.000	C	C	63269288	G	C	63269288	3	2	241	1	0	0	0	0	1	0	0	0	8037	932	33	4	1431	4	KCNH5	14	63269288	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	702019	63269288	44080252	34	19514											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68250044	68250044	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttctcagttgtcctcggGgagctcggtgtagaaagtgg	17	7	1	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr14:68250044G>T	ENST00000347230.4	-	21	3963	c.3825C>A	c.(3823-3825)tcC>tcA	p.S1275S	ZFYVE26_ENST00000555452.1_Silent_p.S1275S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1275					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGTCCTCGGGGAGCTCGGTG	0.577																																																	0								ENSG00000072121						111	113	112					14																	68250044		2203	4300	6503	ZFYVE26	SO:0001819	synonymous_variant	0			-	HGNC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3825C>A	14.37:g.68250044G>T		Somatic	0	49	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP							pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S1275	ENST00000347230.4	37	c.3825	CCDS9788.1	14																																																																																			-	NULL		0.577	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	protein_coding	OTTHUMT00000412736.2	G	NM_015346	-		68250044	-1	no_errors	ENST00000347230	ensembl	human	known	74_37	silent	SNP	0.000	T	T	68250044	G	T	68250044	2	4	241	1	0	0	0	0	0	0	0	1	17675	1219	43	3		3	ZFYVE26	14	68250044	Silent	SNP	G	TCGA-X9-A973-01A-11D-A387-09	4980756	68250044	39099496	35	19515											
TTLL5	23093	genome.wustl.edu	37	chr14	76246006	76246011	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-													ggactcactctaaaatttctAagaacaacaacaattattct							TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	AAGAAC	AAGAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr14:76246006_76246011delAAGAAC	ENST00000298832.9	+	24	2681_2686	c.2476_2481delAAGAAC	c.(2476-2481)aagaacdel	p.KN826del	TTLL5_ENST00000556893.1_In_Frame_Del_p.KN377del|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_In_Frame_Del_p.KN335del|TTLL5_ENST00000557636.1_In_Frame_Del_p.KN840del	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	826					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)			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)		TAAAATTTCTAAGAACAACAACAATT	0.383																																																	0								ENSG00000119685																																			TTLL5	SO:0001651	inframe_deletion	0				HGNC	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.2476_2481delAAGAAC	14.37:g.76246006_76246011delAAGAAC	ENSP00000298832:p.Lys826_Asn827del	Somatic					0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	In_Frame_Del	DEL							pfam_TTL/TTLL_fam	p.KN826in_frame_del	ENST00000298832.9	37	c.2476_2481	CCDS32124.1	14																																																																																			-	NULL		0.383	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	protein_coding	OTTHUMT00000414453.1	AAGAAC	NM_015072			76246011	1	no_errors	ENST00000298832	ensembl	human	known	74_37	in_frame_del	DEL	0.997:1.000:0.997:0.983:1.000:1.000	-	-	76246011	AAGAAC	-	76246006	7	5	241	1	0	1	0	1	0	0	0	0	16737	363	13	0	2566	0	TTLL5	14	76246006	In_Frame_Del	DEL	AAGAAC	TCGA-X9-A973-01A-11D-A387-09	7995962	76246006	31103534	36	19516											
TECPR2	9895	genome.wustl.edu	37	chr14	102900692	102900692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgacctcaagtgtcctggGcagtagcgtggatcagttaa	13	8	2	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr14:102900692G>T	ENST00000359520.7	+	9	1764	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	TECPR2_ENST00000558678.1_Missense_Mutation_p.G513V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	513					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGTGTCCTGGGCAGTAGCGTG	0.537																																																	0								ENSG00000196663						93	88	90					14																	102900692		2203	4300	6503	TECPR2	SO:0001583	missense	0			-	HGNC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1538G>T	14.37:g.102900692G>T	ENSP00000352510:p.Gly513Val	Somatic	0	40	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP							pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.G513V	ENST00000359520.7	37	c.1538	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414410	0.25465	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.16743	2.32	5.19	4.3	0.51218	.	0.787657	0.12072	N	0.502188	T	0.15176	0.0366	L	0.43152	1.355	0.48288	D	0.999628	P;P	0.37122	0.583;0.583	B;B	0.34489	0.07;0.184	T	0.03325	-1.1048	10	0.48119	T	0.1	.	8.7622	0.34680	0.0758:0.0:0.7752:0.149	.	513;513	A5PKY3;O15040	.;TCPR2_HUMAN	V	513	ENSP00000352510:G513V	ENSP00000352510:G513V	G	+	2	0	TECPR2	101970445	1.000000	0.71417	0.960000	0.40013	0.306000	0.27790	4.080000	0.57620	1.196000	0.43129	0.555000	0.69702	GGC	-	NULL		0.537	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	protein_coding	OTTHUMT00000415056.2	G	NM_014844	-		102900692	1	no_errors	ENST00000359520	ensembl	human	known	74_37	missense	SNP	0.997	T	T	102900692	G	T	102900692	3	4	241	1	0	0	0	0	1	0	0	0	15751	1203	42	3	1568	3	TECPR2	14	102900692	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	26654686	102900692	4448848	37	19517											
OR4F6	390648	genome.wustl.edu	37	chr15	102346825	102346825	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggtggcaatgagaagacgAtgctctcagtttgtgaatta	12	5	1	3			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr15:102346825A>T	ENST00000328882.4	+	1	924	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGAGAAGACGATGCTCTCAGT	0.308																																																	0								ENSG00000184140						30	29	30					15																	102346825		2202	4300	6502	OR4F6	SO:0001819	synonymous_variant	0			-	HGNC	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.903A>T	15.37:g.102346825A>T		Somatic	0	56	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	25	57.63	B9EH28|Q6IF95	Silent	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R301	ENST00000328882.4	37	c.903	CCDS32341.1	15																																																																																			-	NULL		0.308	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	protein_coding	OTTHUMT00000417593.1	A		-		102346825	1	no_errors	ENST00000328882	ensembl	human	known	74_37	silent	SNP	0.000	T	T	102346825	A	T	102346825	2	4	241	1	0	0	0	0	0	0	0	1	11068	320	12	5		5	OR4F6	15	102346825	Silent	SNP	A	TCGA-X9-A973-01A-11D-A387-09		102346825	184567	38	19518											
NLRC3	197358	genome.wustl.edu	37	chr16	3613566	3613566	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccacaaactcctgcaGggacaggtgggtgaagcagt	15	10	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr16:3613566G>T	ENST00000301749.7	-	0	1777				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACTCCTGCAGGGACAGGTGG	0.617																																																	0								ENSG00000167984						29	32	31					16																	3613566		2052	4207	6259	NLRC3			0			-	HGNC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613566G>T		Somatic	0	41	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP							superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L505M	ENST00000301749.7	37	c.1513		16	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249491	0.39797	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.35	4.19	0.49359	.	0.185930	0.36101	N	0.002787	D	0.87414	0.6171	.	.	.	0.23010	N	0.998434	D	0.54047	0.964	P	0.53912	0.737	T	0.80728	-0.1253	9	0.59425	D	0.04	.	12.1949	0.54292	0.0974:0.0:0.9026:0.0	.	505	C9JLH9	.	M	458;458;458;505;440	ENSP00000301749:L458M;ENSP00000352039:L458M;ENSP00000414415:L505M;ENSP00000323897:L440M	ENSP00000301749:L458M	L	-	1	2	NLRC3	3553567	0.997000	0.39634	1.000000	0.80357	0.861000	0.49209	1.317000	0.33631	2.503000	0.84419	0.655000	0.94253	CTG	-	NULL		0.617	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	polymorphic_pseudogene		G	NM_178844	-		3613566	-1	no_errors	ENST00000448023	ensembl	human	known	74_37	missense	SNP	0.966	T	T	3613566	G	T	3613566	1	4	241	0	1	0	0	0	0	0	0	0	10470	991	35	3		3	NLRC3	16	3613566	RNA	SNP	G	TCGA-X9-A973-01A-11D-A387-09		3613566	86741187	39	19519											
ACSM5	54988	genome.wustl.edu	37	chr16	20448601	20448601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttccagctaccggatcgGgcctgttgaagtggaaagtg	13	11	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr16:20448601G>A	ENST00000331849.4	+	12	1595	c.1448G>A	c.(1447-1449)gGg>gAg	p.G483E	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	483					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACCGGATCGGGCCTGTTGAA	0.557																																																	0								ENSG00000183549						95	96	96					16																	20448601		2203	4300	6503	ACSM5	SO:0001583	missense	0			-	HGNC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1448G>A	16.37:g.20448601G>A	ENSP00000327916:p.Gly483Glu	Somatic	0	110	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	59	16.90	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP							pfam_AMP-dep_Synth/Lig	p.G483E	ENST00000331849.4	37	c.1448	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399543	0.62177	.	.	ENSG00000183549	ENST00000331849	T	0.42513	0.97	4.89	4.89	0.63831	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000011	T	0.60183	0.2249	L	0.50847	1.595	0.50813	D	0.999897	D	0.89917	1.0	D	0.97110	1.0	T	0.63510	-0.6621	10	0.87932	D	0	-26.968	17.1741	0.86837	0.0:0.0:1.0:0.0	.	483	Q6NUN0	ACSM5_HUMAN	E	483	ENSP00000327916:G483E	ENSP00000327916:G483E	G	+	2	0	ACSM5	20356102	1.000000	0.71417	0.672000	0.29872	0.401000	0.30781	8.028000	0.88798	2.413000	0.81919	0.650000	0.86243	GGG	-	pfam_AMP-dep_Synth/Lig		0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	protein_coding	OTTHUMT00000254413.1	G	NM_017888	-		20448601	1	no_errors	ENST00000331849	ensembl	human	known	74_37	missense	SNP	1.000	A	A	20448601	G	A	20448601	3	1	241	1	0	0	0	0	1	0	0	0	187	1232	43	2	1490	2	ACSM5	16	20448601	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	16835035	20448601	69906152	40	19520											
CTRB1	1504	genome.wustl.edu	37	chr16	75257097	75257097	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgacgaggagaacatcCaggtcctgaagatcgccaag	12	11	1	4			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr16:75257097C>T	ENST00000361017.4	+	4	303	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	RP11-331F4.4_ENST00000489723.1_RNA	NM_001906.4	NP_001897.4	P17538	CTRB1_HUMAN	chymotrypsinogen B1	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)	Aprotinin(DB06692)	GGAGAACATCCAGGTCCTGAA	0.672																																																	0								ENSG00000168925						1	2	2					16																	75257097		1092	2315	3407	CTRB1	SO:0001587	stop_gained	0			-	HGNC		CCDS32490.1	16q23.1	2008-02-05			ENSG00000168925	ENSG00000168925	3.4.21.1		2521	protein-coding gene	gene with protein product		118890		CTRB		2917002, 8186414	Standard	NM_001906		Approved		uc002fds.3	P17538	OTTHUMG00000159272	ENST00000361017.4:c.295C>T	16.37:g.75257097C>T	ENSP00000354294:p.Gln99*	Somatic	0	111	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	31	41.51		Nonsense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q99*	ENST00000361017.4	37	c.295	CCDS32490.1	16	.	.	.	.	.	.	.	.	.	.	c	37	6.355804	0.97502	.	.	ENSG00000168925	ENST00000361017	.	.	.	4.7	3.72	0.42706	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7227	0.62737	0.1556:0.8444:0.0:0.0	.	.	.	.	X	99	.	ENSP00000354294:Q99X	Q	+	1	0	CTRB1	73814598	0.101000	0.21875	0.079000	0.20413	0.988000	0.76386	2.521000	0.45563	1.150000	0.42419	0.455000	0.32223	CAG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.672	CTRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRB1	protein_coding	OTTHUMT00000354300.2	C	NM_001906	-		75257097	1	no_errors	ENST00000361017	ensembl	human	known	74_37	nonsense	SNP	0.997	T	T	75257097	C	T	75257097	4	4	241	1	0	0	0	0	0	1	0	0	4027	595	21	2	309	2	CTRB1	16	75257097	Nonsense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09	54808496	75257097	15097656	41	19521											
ERN1	2081	genome.wustl.edu	37	chr17	62133221	62133223	+	In_Frame_Del	DEL	GCT	GCT	-													tccaggtgggtggaagggcaGctgctgctgctgctgctgca							TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr17:62133221_62133223delGCT	ENST00000433197.3	-	13	1579_1581	c.1484_1486delAGC	c.(1483-1488)cagctg>ctg	p.Q495del		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGGAAGGGCAgctgctgctgctg	0.631																																																	0								ENSG00000178607			53,58,3253		10,0,33,12,34,1593						4.2	1			6	0,118,6892		0,0,0,19,80,3406	no	codingComplex	ERN1	NM_001433.3		10,0,33,31,114,4999	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6833,3.2996,2.2074				53,176,10145				ERN1	SO:0001651	inframe_deletion	0				HGNC	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1484_1486delAGC	17.37:g.62133230_62133232delGCT	ENSP00000401445:p.Gln495del	Somatic	0	19	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50		In_Frame_Del	DEL							pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.Q495in_frame_del	ENST00000433197.3	37	c.1486_1484	CCDS45762.1	17																																																																																			-	NULL		0.631	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	protein_coding	OTTHUMT00000443734.2	GCT	NM_001433			62133223	-1	no_errors	ENST00000433197	ensembl	human	known	74_37	in_frame_del	DEL	0.999:0.998:0.998	-	-	62133223	GCT	-	62133221	7	5	241	1	0	1	0	1	0	0	0	0	5239	962	34	0	1487	0	ERN1	17	62133221	In_Frame_Del	DEL	GCT	TCGA-X9-A973-01A-11D-A387-09		62133221	19061989	42	19522											
WBP2	23558	genome.wustl.edu	37	chr17	73845736	73845736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtttgcaccaaatacggGctgcttgatctcacagtctt	9	10	2	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr17:73845736G>T	ENST00000591399.1	-	4	677	c.253C>A	c.(253-255)Ccc>Acc	p.P85T	WBP2_ENST00000590221.1_Missense_Mutation_p.P85T|WBP2_ENST00000433525.2_Missense_Mutation_p.P85T|WBP2_ENST00000254806.3_Missense_Mutation_p.P85T|WBP2_ENST00000585462.1_Missense_Mutation_p.P63T|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000344296.4_Missense_Mutation_p.P63T			Q969T9	WBP2_HUMAN	WW domain binding protein 2	85					cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAAATACGGGCTGCTTGATC	0.537																																																	0								ENSG00000132471						172	135	148					17																	73845736		2203	4300	6503	WBP2	SO:0001583	missense	0			-	HGNC	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.253C>A	17.37:g.73845736G>T	ENSP00000467579:p.Pro85Thr	Somatic	0	81	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O95638	Missense_Mutation	SNP							pfam_WW-domain-binding,pfam_GRAM	p.P85T	ENST00000591399.1	37	c.253	CCDS11731.1	17	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820764	0.90873	.	.	ENSG00000132471	ENST00000254806;ENST00000344296;ENST00000433525;ENST00000431190;ENST00000416574	T;T;T	0.39592	1.07;1.07;1.07	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	H	0.94423	3.535	0.80722	D	1	D;D;D;D	0.76494	0.999;0.978;0.972;0.972	D;P;P;P	0.66847	0.947;0.672;0.573;0.573	T	0.83247	-0.0055	10	0.87932	D	0	-8.4697	17.8009	0.88586	0.0:0.0:1.0:0.0	.	85;85;85;85	B4DV07;B4DFG2;Q7Z511;Q969T9	.;.;.;WBP2_HUMAN	T	85;63;85;85;85	ENSP00000254806:P85T;ENSP00000341570:P63T;ENSP00000415251:P85T	ENSP00000254806:P85T	P	-	1	0	WBP2	71357331	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.808000	0.99193	2.201000	0.70794	0.561000	0.74099	CCC	-	NULL		0.537	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2	protein_coding	OTTHUMT00000448862.1	G	NM_012478	-		73845736	-1	no_errors	ENST00000254806	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73845736	G	T	73845736	3	4	241	1	0	0	0	0	1	0	0	0	17266	1203	42	3	556	3	WBP2	17	73845736	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	11712515	73845736	7349474	43	19523											
TTR	7276	genome.wustl.edu	37	chr18	29178578	29178578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgccgctacaccattgcCgccctgctgagcccctactc	7	22	0	1	rs143906738		TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr18:29178578C>T	ENST00000237014.3	+	4	561	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	128					extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACACCATTGCCGCCCTGCTGA	0.577																																																	0								ENSG00000118271	C		0,4406		0,0,2203	78	68	71		384	-12.2	0	18	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TTR	NM_000371.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		128/148	29178578	4,13002	2203	4300	6503	TTR	SO:0001819	synonymous_variant	0			-	HGNC	M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"prealbumin, amyloidosis type I", "carpal tunnel syndrome 1"	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.384C>T	18.37:g.29178578C>T		Somatic	0	72	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Silent	SNP							pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	p.A128	ENST00000237014.3	37	c.384	CCDS11899.1	18																																																																																			-	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF		0.577	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTR	protein_coding	OTTHUMT00000254948.1	C	NM_000371	rs143906738		29178578	1	no_errors	ENST00000237014	ensembl	human	known	74_37	silent	SNP	0.085	T	T	29178578	C	T	29178578	2	4	241	1	0	0	0	0	0	0	0	1	16745	639	23	1		1	TTR	18	29178578	Silent	SNP	C	TCGA-X9-A973-01A-11D-A387-09		29178578	48898670	44	19524											
RYR1	6261	genome.wustl.edu	37	chr19	39010003	39010003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggcggaggcccaggagGgcgagctgctggtgcgggac	20	11	0	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr19:39010003G>T	ENST00000359596.3	+	67	10168	c.10168G>T	c.(10168-10170)Ggc>Tgc	p.G3390C	RYR1_ENST00000360985.3_Missense_Mutation_p.G3390C|RYR1_ENST00000355481.4_Missense_Mutation_p.G3390C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3390					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)	GGCCCAGGAGGGCGAGCTGCT	0.662																																																	0								ENSG00000196218						52	40	44					19																	39010003		2202	4300	6502	RYR1	SO:0001583	missense	0			-	HGNC	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.10168G>T	19.37:g.39010003G>T	ENSP00000352608:p.Gly3390Cys	Somatic	0	53	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP							pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.G3390C	ENST00000359596.3	37	c.10168	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480351	0.26598	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.15;-4.16	3.55	3.55	0.40652	.	0.286504	0.27294	U	0.020023	D	0.94324	0.8176	L	0.38175	1.15	0.35696	D	0.815245	D;D;D	0.61697	0.971;0.99;0.983	P;P;B	0.50378	0.639;0.639;0.436	D	0.95626	0.8685	10	0.66056	D	0.02	.	10.3976	0.44209	0.0:0.0:0.804:0.196	.	3390;3390;3390	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	C	3390;3390;3390;310	ENSP00000352608:G3390C;ENSP00000347667:G3390C;ENSP00000354254:G3390C	ENSP00000347667:G3390C	G	+	1	0	RYR1	43701843	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.150000	0.71801	1.836000	0.53414	0.430000	0.28490	GGC	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G		-		39010003	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	SNP	1.000	T	T	39010003	G	T	39010003	3	4	241	1	0	0	0	0	1	0	0	0	13776	1232	43	3	10434	3	RYR1	19	39010003	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09		39010003	20118980	45	19525											
NUMBL	9253	genome.wustl.edu	37	chr19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gttgctgctgctgctgctgcTgctgttgctgttgctgctgc					rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic					0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q7Z4J9	In_Frame_Del	DEL							pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-	-	41173898	TGCTGT	-	41173893	7	5	241	1	0	1	0	1	0	0	0	0	10754	1580	55	0	523	0	NUMBL	19	41173893	In_Frame_Del	DEL	TGCTGT	TCGA-X9-A973-01A-11D-A387-09	2163890	41173893	17955090	46	19526											
CYP2F1	1572	genome.wustl.edu	37	chr19	41630690	41630690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgctgaaggaccgcgCggccatgccttacacagacg	14	15	0	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr19:41630690C>T	ENST00000331105.2	+	8	1103	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	344					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						AAGGACCGCGCGGCCATGCCT	0.662																																																	0								ENSG00000197446						24	22	23					19																	41630690		2201	4300	6501	CYP2F1	SO:0001583	missense	0			-	HGNC	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.1031C>T	19.37:g.41630690C>T	ENSP00000333534:p.Ala344Val	Somatic	0	34	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP							pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A344V	ENST00000331105.2	37	c.1031	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	c	5.622	0.299530	0.10622	.	.	ENSG00000197446	ENST00000331105	T	0.69806	-0.43	3.13	0.826	0.18829	.	0.724493	0.13151	U	0.409881	T	0.47820	0.1466	L	0.38733	1.17	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.31194	-0.9952	10	0.36615	T	0.2	.	1.5189	0.02512	0.2192:0.4349:0.2145:0.1314	.	344	P24903	CP2F1_HUMAN	V	344	ENSP00000333534:A344V	ENSP00000333534:A344V	A	+	2	0	CYP2F1	46322530	0.000000	0.05858	0.117000	0.21633	0.408000	0.30992	-3.720000	0.00384	0.065000	0.16485	0.089000	0.15464	GCG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.662	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	protein_coding	OTTHUMT00000394527.2	C		-		41630690	1	no_errors	ENST00000331105	ensembl	human	known	74_37	missense	SNP	0.000	T	T	41630690	C	T	41630690	3	4	241	1	0	0	0	0	1	0	0	0	4173	768	27	1	1057	1	CYP2F1	19	41630690	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09	456797	41630690	17498293	47	19527											
MYH14	79784	genome.wustl.edu	37	chr19	50760604	50760604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcctgggcgacggccCaccaggtggccgcccccgtc	15	18	0	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr19:50760604C>A	ENST00000596571.1	+	15	1970	c.1970C>A	c.(1969-1971)cCa>cAa	p.P657Q	MYH14_ENST00000440075.2_Missense_Mutation_p.P698Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P698Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P665Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P690Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P698Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P665Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	657	Myosin motor.				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)			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)		GGCGACGGCCCACCAGGTGGC	0.627																																																	0								ENSG00000105357						18	21	20					19																	50760604		1961	4147	6108	MYH14	SO:0001583	missense	0			-	HGNC	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.1970C>A	19.37:g.50760604C>A	ENSP00000472819:p.Pro657Gln	Somatic	0	50	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	17	46.88	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP							pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P698Q	ENST00000596571.1	37	c.2093	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	5.624	0.299925	0.10622	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	4.51	4.51	0.55191	Myosin head, motor domain (2);	.	.	.	.	D	0.85517	0.5715	N	0.20357	0.565	0.09310	N	1	D;B;P	0.56746	0.977;0.391;0.555	P;B;B	0.59357	0.856;0.425;0.3	T	0.75858	-0.3169	9	0.66056	D	0.02	.	8.659	0.34081	0.0:0.897:0.0:0.103	.	698;657;665	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	657;698;690;665;657;698	ENSP00000406273:P698Q;ENSP00000366169:P690Q;ENSP00000407879:P665Q;ENSP00000262269:P698Q	ENSP00000262269:P698Q	P	+	2	0	MYH14	55452416	0.064000	0.20934	0.630000	0.29268	0.267000	0.26476	2.693000	0.47027	2.520000	0.84964	0.655000	0.94253	CCA	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729	-		50760604	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	SNP	0.098	A	A	50760604	C	A	50760604	3	1	241	1	0	0	0	0	1	0	0	0	10035	594	21	3	2159	3	MYH14	19	50760604	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09	9129914	50760604	8368379	48	19528											
SAMHD1	25939	genome.wustl.edu	37	chr20	35545356	35545356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgttcagtgcatacctggCaaaataatcccatttgtcca	7	10	1	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr20:35545356C>A	ENST00000262878.4	-	8	1148	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S	SAMHD1_ENST00000373694.5_Missense_Mutation_p.A102S	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	317	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCATACCTGGCAAAATAATCC	0.328																																																	0								ENSG00000101347						54	50	52					20																	35545356		2202	4300	6502	SAMHD1	SO:0001583	missense	0			-	HGNC	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.949G>T	20.37:g.35545356C>A	ENSP00000262878:p.Ala317Ser	Somatic	0	72	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	53	29	64.63	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP							pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.A317S	ENST00000262878.4	37	c.949	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818596	0.90790	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95205	-2.63;-3.64	5.97	5.97	0.96955	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.049720	0.85682	D	0.000000	D	0.94407	0.8201	L	0.41236	1.265	0.80722	D	1	P	0.46859	0.885	P	0.51297	0.665	D	0.93031	0.6448	10	0.35671	T	0.21	.	20.016	0.97477	0.0:1.0:0.0:0.0	.	317	Q9Y3Z3	SAMH1_HUMAN	S	317;102	ENSP00000262878:A317S;ENSP00000362798:A102S	ENSP00000262878:A317S	A	-	1	0	SAMHD1	34978770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.893000	0.69798	2.823000	0.97156	0.591000	0.81541	GCC	-	pfam_HD_domain,smart_HD/PDEase_dom		0.328	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	protein_coding	OTTHUMT00000079062.2	C	NM_015474	-		35545356	-1	no_errors	ENST00000262878	ensembl	human	known	74_37	missense	SNP	1.000	A	A	35545356	C	A	35545356	3	1	241	1	0	0	0	0	1	0	0	0	13836	710	25	3	967	3	SAMHD1	20	35545356	Missense_Mutation	SNP	C	TCGA-X9-A973-01A-11D-A387-09		35545356	27480164	49	19529											
GNAS	2778	genome.wustl.edu	37	chr20	57466892	57466892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggacaagcaggtctaCcgggccacgcaccgcctgct	12	15	1	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr20:57466892C>T	ENST00000371085.3	+	1	535	c.111C>T	c.(109-111)taC>taT	p.Y37Y	GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306090.10_Silent_p.Y37Y|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000371081.1_Silent_p.Y37Y|GNAS_ENST00000371095.3_Silent_p.Y37Y|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000265620.7_Silent_p.Y37Y|GNAS_ENST00000354359.7_Silent_p.Y37Y|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	37					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCAGGTCTACCGGGCCACGC	0.716			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0			GRCh37	CM002268	GNAS	M		ENSG00000087460						47	37	40					20																	57466892		2196	4292	6488	GNAS	SO:0001819	synonymous_variant	0			-	HGNC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.111C>T	20.37:g.57466892C>T		Somatic	0	35	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	20	55.56	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP							pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.Y37	ENST00000371085.3	37	c.111	CCDS13472.1	20																																																																																			-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su		0.716	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	protein_coding	OTTHUMT00000080431.2	C	NM_000516	-		57466892	1	no_errors	ENST00000354359	ensembl	human	known	74_37	silent	SNP	0.996	T	T	57466892	C	T	57466892	2	4	241	1	0	0	0	0	0	0	0	1	6512	518	18	2		2	GNAS	20	57466892	Silent	SNP	C	TCGA-X9-A973-01A-11D-A387-09	21921536	57466892	5558628	50	19530											
CHAF1B	8208	genome.wustl.edu	37	chr21	37771863	37771863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcgtgtggctttcaAtgtttcgaagatgctgtctg	13	6	2	2			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr21:37771863A>G	ENST00000314103.5	+	7	774	c.623A>G	c.(622-624)aAt>aGt	p.N208S		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	208					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGGCTTTCAATGTTTCGAAG	0.403																																																	0								ENSG00000159259						153	143	146					21																	37771863		2203	4300	6503	CHAF1B	SO:0001583	missense	0			-	HGNC	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.623A>G	21.37:g.37771863A>G	ENSP00000315700:p.Asn208Ser	Somatic	0	46	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q99548	Missense_Mutation	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	p.N208S	ENST00000314103.5	37	c.623	CCDS13644.1	21	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590252	0.46214	.	.	ENSG00000159259	ENST00000314103	T	0.64618	-0.11	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.182324	0.56097	D	0.000023	T	0.53238	0.1784	L	0.43701	1.375	0.41357	D	0.987408	B	0.18310	0.027	B	0.17433	0.018	T	0.50516	-0.8819	10	0.11794	T	0.64	-33.584	15.5193	0.75854	1.0:0.0:0.0:0.0	.	208	Q13112	CAF1B_HUMAN	S	208	ENSP00000315700:N208S	ENSP00000315700:N208S	N	+	2	0	CHAF1B	36693733	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	5.328000	0.65887	2.131000	0.65755	0.460000	0.39030	AAT	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	protein_coding	OTTHUMT00000194616.2	A	NM_005441	-		37771863	1	no_errors	ENST00000314103	ensembl	human	known	74_37	missense	SNP	1.000	G	G	37771863	A	G	37771863	3	3	241	1	0	0	0	0	1	0	0	0	3314	101	4	5	645	5	CHAF1B	21	37771863	Missense_Mutation	SNP	A	TCGA-X9-A973-01A-11D-A387-09		37771863	10358032	51	19531											
C22orf30	253143	genome.wustl.edu	37	chr22	32081555	32081555	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctcctcttccttggcaaaGaaggtctccagttccattag	8	12	2	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chr22:32081555G>T	ENST00000327423.6	-	9	6603	c.6414C>A	c.(6412-6414)ttC>ttA	p.F2138L	PRR14L_ENST00000434485.1_3'UTR|PRR14L_ENST00000397493.2_Intron	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2138										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CCTTGGCAAAGAAGGTCTCCA	0.458																																																	0								ENSG00000183530						77	63	67					22																	32081555		692	1591	2283	PRR14L	SO:0001583	missense	0			-	HGNC	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.6414C>A	22.37:g.32081555G>T	ENSP00000331845:p.Phe2138Leu	Somatic	0	42	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP							NULL	p.F2138L	ENST00000327423.6	37	c.6414	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426614	0.43020	.	.	ENSG00000183530	ENST00000327423	T	0.10005	2.92	5.64	2.37	0.29283	.	0.182597	0.50627	D	0.000102	T	0.14527	0.0351	N	0.13098	0.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04693	-1.0933	10	0.72032	D	0.01	-12.1181	7.8125	0.29239	0.417:0.0:0.583:0.0	.	2138	Q5THK1	PR14L_HUMAN	L	2138	ENSP00000331845:F2138L	ENSP00000331845:F2138L	F	-	3	2	PRR14L	30411555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.283000	0.33237	0.294000	0.22547	0.655000	0.94253	TTC	-	NULL		0.458	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	protein_coding	OTTHUMT00000074993.2	G	NM_173566	-		32081555	-1	no_errors	ENST00000327423	ensembl	human	novel	74_37	missense	SNP	0.999	T	T	32081555	G	T	32081555	3	4	241	1	0	0	0	0	1	0	0	0	2144	933	33	3	45	3	C22orf30	22	32081555	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09		32081555	19223011	52	19532											
NR0B1	190	genome.wustl.edu	37	chrX	30326654	30326654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccaggggcagcaccTggaagcagggcaagtacttg	16	10	0	0			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chrX:30326654T>C	ENST00000378970.4	-	1	1061	c.827A>G	c.(826-828)cAg>cGg	p.Q276R	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.Q276R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	276	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGGCAGCACCTGGAAGCAGGG	0.652											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000169297						16	11	13					X																	30326654		2173	4252	6425	NR0B1	SO:0001583	missense	0			-	HGNC	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.827A>G	X.37:g.30326654T>C	ENSP00000368253:p.Gln276Arg	Somatic	0	46	0	816	0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	8	82.22	Q96F69	Missense_Mutation	SNP							pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.Q276R	ENST00000378970.4	37	c.827	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453586	0.63290	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.96365	-3.99;-3.99	5.47	4.23	0.50019	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.108809	0.64402	D	0.000003	D	0.92224	0.7534	N	0.25201	0.72	0.49483	D	0.999794	P	0.42296	0.775	B	0.43658	0.426	D	0.90385	0.4391	10	0.28530	T	0.3	-1.7494	10.5167	0.44894	0.1468:0.0:0.0:0.8532	.	276	P51843	NR0B1_HUMAN	R	276	ENSP00000368253:Q276R;ENSP00000396403:Q276R	ENSP00000368253:Q276R	Q	-	2	0	NR0B1	30236575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.959000	0.49153	1.823000	0.53134	0.417000	0.27973	CAG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.652	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	protein_coding	OTTHUMT00000056161.1	T	NM_000475	-		30326654	-1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	SNP	1.000	C	C	30326654	T	C	30326654	3	2	241	1	0	0	0	0	1	0	0	0	10615	1580	55	5	593	5	NR0B1	23	30326654	Missense_Mutation	SNP	T	TCGA-X9-A973-01A-11D-A387-09		30326654	124943906	53	19533											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996475	140996475	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatgctaaagaataccgtCcctattacctttccatcctc	4	15	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chrX:140996475C>T	ENST00000285879.4	+	4	3571	c.3285C>T	c.(3283-3285)gtC>gtT	p.V1095V	MAGEC1_ENST00000406005.2_Silent_p.V162V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1095	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAATACCGTCCCTATTACCT	0.448										HNSCC(15;0.026)																																							0								ENSG00000155495						144	131	135					X																	140996475		2203	4300	6503	MAGEC1	SO:0001819	synonymous_variant	0			-	HGNC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3285C>T	X.37:g.140996475C>T		Somatic	0	34	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	A0PK03|O75451|Q8TCV4	Silent	SNP							pfam_MAGE,pfscan_MAGE	p.V1095	ENST00000285879.4	37	c.3285	CCDS35417.1	X																																																																																			-	pfscan_MAGE		0.448	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	protein_coding	OTTHUMT00000058604.1	C	NM_005462	-		140996475	1	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	SNP	0.000	T	T	140996475	C	T	140996475	2	4	241	1	0	0	0	0	0	0	0	1	9182	842	30	2		2	MAGEC1	23	140996475	Silent	SNP	C	TCGA-X9-A973-01A-11D-A387-09	110669821	140996475	14274085	54	19534											
MAMLD1	10046	genome.wustl.edu	37	chrX	149671639	149671639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggccctggggagtgaGtccttcctgcccggcagctc	14	15	0	1			TCGA-X9-A973-01A-11D-A387-09	TCGA-X9-A973-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	231a60ba-0cbf-4e49-80b9-fb79251a0329	3a81eddf-cc20-47e1-ba2e-5bc21240b8d9	g.chrX:149671639G>T	ENST00000370401.2	+	6	2446	c.2136G>T	c.(2134-2136)gaG>gaT	p.E712D	MAMLD1_ENST00000455522.2_Missense_Mutation_p.E152D|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E687D|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E712D|MAMLD1_ENST00000432680.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	712					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGAGTGAGTCCTTCCTGC	0.657																																																	0								ENSG00000013619						72	71	71					X																	149671639		2203	4299	6502	MAMLD1	SO:0001583	missense	0			-	HGNC	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2136G>T	X.37:g.149671639G>T	ENSP00000359428:p.Glu712Asp	Somatic	0	47	0		0.650280636252789				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	9	60.87	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP							NULL	p.E712D	ENST00000370401.2	37	c.2136	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723042	0.68959	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T	0.62941	-0.01;-0.01;-0.0;0.43	3.55	3.55	0.40652	.	0.419372	0.19776	N	0.106325	T	0.71921	0.3397	L	0.57536	1.79	0.26886	N	0.967439	D;D;D	0.67145	0.996;0.99;0.99	D;D;D	0.73380	0.978;0.98;0.98	T	0.61397	-0.7071	10	0.52906	T	0.07	.	9.7056	0.40214	0.0:0.0:1.0:0.0	.	584;687;712	F6WVG1;Q13495-4;Q13495	.;.;MAMD1_HUMAN	D	584;712;712;687;152	ENSP00000359428:E712D;ENSP00000262858:E712D;ENSP00000397438:E687D;ENSP00000389106:E152D	ENSP00000262858:E712D	E	+	3	2	MAMLD1	149422297	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.654000	0.54453	2.036000	0.60181	0.529000	0.55759	GAG	-	NULL		0.657	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	protein_coding	OTTHUMT00000060844.2	G	NM_005491	-		149671639	1	no_errors	ENST00000262858	ensembl	human	known	74_37	missense	SNP	1.000	T	T	149671639	G	T	149671639	3	4	241	1	0	0	0	0	1	0	0	0	9210	1020	36	3	2154	3	MAMLD1	23	149671639	Missense_Mutation	SNP	G	TCGA-X9-A973-01A-11D-A387-09	8675164	149671639	5598921	55	19535											
LRRC7	57554	genome.wustl.edu	37	chr1	70477507	70477507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattagaagaatttgactgTagctgtaatgaactggagtc	10	4	0	4			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:70477507T>G	ENST00000035383.5	+	10	948	c.918T>G	c.(916-918)tgT>tgG	p.C306W	LRRC7_ENST00000310961.5_Missense_Mutation_p.C311W|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	306						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATTTGACTGTAGCTGTAATG	0.333																																																	0								ENSG00000033122						50	49	49					1																	70477507		2201	4299	6500	LRRC7	SO:0001583	missense	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.918T>G	1.37:g.70477507T>G	ENSP00000035383:p.Cys306Trp	Somatic	0	61	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP							pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.C306W	ENST00000035383.5	37	c.918	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045281	0.55110	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.24723	1.97;1.84	5.14	-2.72	0.05968	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	L	0.49778	1.585	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.23368	-1.0190	10	0.87932	D	0	.	13.5734	0.61860	0.0:0.6408:0.0:0.3592	.	306	Q96NW7	LRRC7_HUMAN	W	311;306;129	ENSP00000309245:C311W;ENSP00000035383:C306W	ENSP00000035383:C306W	C	+	3	2	LRRC7	70250095	0.989000	0.36119	0.991000	0.47740	0.979000	0.70002	0.231000	0.17872	-0.425000	0.07371	-0.911000	0.02809	TGT	-	NULL		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	T	NM_020794	-		70477507	1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	SNP	0.956	G	G	70477507	T	G	70477507	3	3	242	1	0	0	0	0	1	0	0	0	9022	1644	57	5	956	5	LRRC7	1	70477507	Missense_Mutation	SNP	T	TCGA-Z4-A8JB-01A-23D-A37C-09		70477507	178773114	1	19536											
ZNF326	284695	genome.wustl.edu	37	chr1	90492954	90492954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaccattctcaggatcaGcaaatagaaggagatgagga	11	7	2	4			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:90492954G>A	ENST00000340281.4	+	12	1586	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	ZNF326_ENST00000455342.2_Silent_p.Q275Q|ZNF326_ENST00000370447.3_Silent_p.Q392Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	481					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTCAGGATCAGCAAATAGAAG	0.393																																																	0								ENSG00000162664						102	108	106					1																	90492954		2203	4300	6503	ZNF326	SO:0001819	synonymous_variant	0			-	HGNC	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1443G>A	1.37:g.90492954G>A		Somatic	0	41	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.09	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP							pfam_AKAP95	p.Q481	ENST00000340281.4	37	c.1443	CCDS727.1	1																																																																																			-	NULL		0.393	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	protein_coding	OTTHUMT00000029428.2	G	NM_181781	-		90492954	1	no_errors	ENST00000340281	ensembl	human	known	74_37	silent	SNP	0.994	A	A	90492954	G	A	90492954	2	1	242	1	0	0	0	0	0	0	0	1	17853	962	34	2		2	ZNF326	1	90492954	Silent	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	20015447	90492954	158757667	2	19537											
ARHGEF11	9826	genome.wustl.edu	37	chr1	156948122	156948122	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctggagcccagagatGcccatggatgaaggtgaaga	14	9	0	4	rs538185429		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:156948122G>T	ENST00000361409.2	-	6	1126	c.384C>A	c.(382-384)ggC>ggA	p.G128G	ARHGEF11_ENST00000368194.3_Silent_p.G128G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	128					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)					GCCCAGAGATGCCCATGGATG	0.592																																																	0								ENSG00000132694						102	98	100					1																	156948122		2203	4300	6503	ARHGEF11	SO:0001819	synonymous_variant	0			-	HGNC	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.384C>A	1.37:g.156948122G>T		Somatic	0	35	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP							pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.G128	ENST00000361409.2	37	c.384	CCDS1162.1	1																																																																																			-	NULL		0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	protein_coding	OTTHUMT00000098931.1	G	NM_198236	-		156948122	-1	no_errors	ENST00000368194	ensembl	human	known	74_37	silent	SNP	0.078	T	T	156948122	G	T	156948122	2	4	242	1	0	0	0	0	0	0	0	1	896	1306	46	3		3	ARHGEF11	1	156948122	Silent	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	66455168	156948122	92302499	3	19538											
BAT2L2	23215	genome.wustl.edu	37	chr1	171510647	171510647	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaggagaggcagagggGgaacattcaggcgtggtgga	18	6	1	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:171510647G>T	ENST00000338920.4	+	16	4273	c.4036G>T	c.(4036-4038)Gga>Tga	p.G1346*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.G1346*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.G1348*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.G1348*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1346	Arg-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGGCAGAGGGGGAACATTCAG	0.498																																																	0								ENSG00000117523						30	28	29					1																	171510647		2203	4300	6503	PRRC2C	SO:0001587	stop_gained	0			-	HGNC	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4036G>T	1.37:g.171510647G>T	ENSP00000343629:p.Gly1346*	Somatic	0	24	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP							pfam_BAT2_N	p.G1348*	ENST00000338920.4	37	c.4042	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	45	11.499306	0.99568	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.45	5.45	0.79879	.	0.000000	0.46145	D	0.000311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2864	0.94072	0.0:0.0:1.0:0.0	.	.	.	.	X	1348;1347;1346;1348;1346;1103	.	ENSP00000343629:G1346X	G	+	1	0	PRRC2C	169777271	1.000000	0.71417	0.813000	0.32504	0.821000	0.46438	7.447000	0.80620	2.549000	0.85964	0.655000	0.94253	GGA	-	NULL		0.498	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	protein_coding	OTTHUMT00000314826.4	G	NM_015172	-		171510647	1	no_errors	ENST00000392078	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	171510647	G	T	171510647	4	4	242	1	0	0	0	0	0	1	0	0	1321	1233	43	3	4094	3	BAT2L2	1	171510647	Nonsense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	14562525	171510647	77739974	4	19539											
TNR	7143	genome.wustl.edu	37	chr1	175355259	175355259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggagccaggccgcagggcCtgcactgagtattggctcag	16	12	1	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:175355259C>G	ENST00000367674.2	-	8	2394	c.1686G>C	c.(1684-1686)caG>caC	p.Q562H	TNR_ENST00000263525.2_Missense_Mutation_p.Q562H			Q92752	TENR_HUMAN	tenascin R	562	Fibronectin type-III 3. {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)				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)					GCCGCAGGGCCTGCACTGAGT	0.592																																																	0								ENSG00000116147						55	54	54					1																	175355259		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	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.1686G>C	1.37:g.175355259C>G	ENSP00000356646:p.Gln562His	Somatic	0	36	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.Q562H	ENST00000367674.2	37	c.1686	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530814	0.64860	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57595	0.39;0.39	5.58	1.62	0.23740	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	L	0.46614	1.455	0.58432	D	0.999994	D	0.69078	0.997	D	0.85130	0.997	T	0.59225	-0.7494	10	0.41790	T	0.15	.	12.0664	0.53590	0.0:0.7815:0.0:0.2185	.	562	Q92752	TENR_HUMAN	H	562	ENSP00000356646:Q562H;ENSP00000263525:Q562H	ENSP00000263525:Q562H	Q	-	3	2	TNR	173621882	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.349000	0.33998	0.459000	0.27016	0.650000	0.86243	CAG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175355259	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	G	G	175355259	C	G	175355259	3	3	242	1	0	0	0	0	1	0	0	0	16345	680	24	4	2454	4	TNR	1	175355259	Missense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	3844612	175355259	73895362	5	19540											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200818301	200818301	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgggatatctcctctaCgagaggaagcggcgggtgca	17	8	2	1	rs139123420		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:200818301C>T	ENST00000236925.4	+	12	2486	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	CAMSAP2_ENST00000358823.2_Nonsense_Mutation_p.R802*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.R786*			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	813					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATCTCCTCTACGAGAGGAAGC	0.428																																																	0								ENSG00000118200						87	100	96					1																	200818301		2203	4298	6501	CAMSAP2	SO:0001587	stop_gained	0			-	HGNC	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2437C>T	1.37:g.200818301C>T	ENSP00000236925:p.Arg813*	Somatic	0	19	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Nonsense_Mutation	SNP							pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R813*	ENST00000236925.4	37	c.2437		1	.	.	.	.	.	.	.	.	.	.	C	37	6.590835	0.97688	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	.	.	.	5.51	5.51	0.81932	.	0.264640	0.38837	N	0.001541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5753	15.0554	0.71910	0.1426:0.8574:0.0:0.0	.	.	.	.	X	802;786;813	.	ENSP00000236925:R813X	R	+	1	2	CAMSAP1L1	199084924	0.795000	0.28851	0.711000	0.30485	0.853000	0.48598	1.354000	0.34056	2.574000	0.86865	0.484000	0.47621	CGA	-	NULL		0.428	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	protein_coding	OTTHUMT00000086956.2	C	NM_203459	-		200818301	1	no_errors	ENST00000236925	ensembl	human	known	74_37	nonsense	SNP	0.980	T	T	200818301	C	T	200818301	4	4	242	1	0	0	0	0	0	1	0	0	2614	528	19	1	2446	1	CAMSAP1L1	1	200818301	Nonsense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	25463042	200818301	48432320	6	19541											
OR2C3	81472	genome.wustl.edu	37	chr1	247694953	247694953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggtgtaaataagtggGttcagcgcaggagtgactac	14	7	2	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:247694953G>T	ENST00000366487.3	-	2	1222	c.861C>A	c.(859-861)aaC>aaA	p.N287K	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	287						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(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AAATAAGTGGGTTCAGCGCAG	0.537																																																	0								ENSG00000196242						100	86	91					1																	247694953		2203	4300	6503	OR2C3	SO:0001583	missense	0			-	HGNC	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.861C>A	1.37:g.247694953G>T	ENSP00000355443:p.Asn287Lys	Somatic	0	47	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N287K	ENST00000366487.3	37	c.861	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558297	0.13436	.	.	ENSG00000196242	ENST00000366487	T	0.59364	0.27	3.91	0.606	0.17559	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	U	0.001704	T	0.69593	0.3128	M	0.74389	2.26	0.27898	N	0.939097	D	0.89917	1.0	D	0.87578	0.998	T	0.61589	-0.7032	10	0.87932	D	0	.	7.1415	0.25558	0.3642:0.0:0.6358:0.0	.	287	Q8N628	OR2C3_HUMAN	K	287	ENSP00000355443:N287K	ENSP00000355443:N287K	N	-	3	2	OR2C3	245761576	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	0.654000	0.24918	0.008000	0.14787	-0.345000	0.07892	AAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	protein_coding	OTTHUMT00000097626.2	G	NM_198074	-		247694953	-1	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	SNP	1.000	T	T	247694953	G	T	247694953	3	4	242	1	0	0	0	0	1	0	0	0	10995	1252	44	3	105	3	OR2C3	1	247694953	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	46876652	247694953	1555668	7	19542											
TTC15	51112	genome.wustl.edu	37	chr2	3391677	3391677	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggacgaagctgagcccGgaggggaaggcgacccaggc	19	11	0	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:3391677G>T	ENST00000324266.5	+	2	478	c.283G>T	c.(283-285)Gga>Tga	p.G95*	TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.G95*	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	95					vesicle-mediated transport (GO:0016192)												AGCTGAGCCCGGAGGGGAAGG	0.726																																																	0								ENSG00000171853						13	12	12					2																	3391677		2170	4257	6427	TRAPPC12	SO:0001587	stop_gained	0			-	HGNC	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.283G>T	2.37:g.3391677G>T	ENSP00000324318:p.Gly95*	Somatic	0	20	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Nonsense_Mutation	SNP							smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G95*	ENST00000324266.5	37	c.283	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713202	0.48517	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	.	.	.	5.21	-7.75	0.01236	.	1.644710	0.03054	N	0.154999	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	9.4897	0.38951	0.3822:0.4566:0.1612:0.0	.	.	.	.	X	95;78;95	.	ENSP00000303612:G78X	G	+	1	0	TTC15	3370684	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.026000	0.12392	-1.694000	0.01425	-1.129000	0.01985	GGA	-	NULL		0.726	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	protein_coding	OTTHUMT00000206693.2	G	NM_016030	-		3391677	1	no_errors	ENST00000324266	ensembl	human	known	74_37	nonsense	SNP	0.000	T	T	3391677	G	T	3391677	4	4	242	1	0	0	0	0	0	1	0	0	16689	1117	39	3	285	3	TTC15	2	3391677	Nonsense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09		3391677	239807696	8	19543											
SOX11	6664	genome.wustl.edu	37	chr2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-													agtgcgtgtttctggatgagGacgacgacgacgacgacgac							TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	GAC	GAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																																	0								ENSG00000176887			5,289,3358		0,0,5,14,261,1546						-1.6	1			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SOX11	SO:0001651	inframe_deletion	0				HGNC		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del	Somatic	0	35	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q4ZFV8	In_Frame_Del	DEL							pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.D228in_frame_del	ENST00000322002.3	37	c.673_675	CCDS1654.1	2																																																																																			-	pirsf_SOX-12/11/4a		0.7	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	protein_coding	OTTHUMT00000206698.1	GAC	NM_003108			5833528	1	no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.999	-	-	5833528	GAC	-	5833526	7	5	242	1	0	1	0	1	0	0	0	0	14950	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-Z4-A8JB-01A-23D-A37C-09	2441849	5833526	237365847	9	19544											
PSD4	23550	genome.wustl.edu	37	chr2	113942980	113942980	+	Frame_Shift_Del	DEL	T	T	-													ggctggcagagaggaggtccTttttggccccaggtgactct							TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:113942980delT	ENST00000245796.6	+	4	1407	c.1212delT	c.(1210-1212)cctfs	p.P404fs	PSD4_ENST00000441564.3_Frame_Shift_Del_p.P404fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	404					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGAGGTCCTTTTTGGCCCC	0.567																																																	0								ENSG00000125637						91	97	95					2																	113942980		2203	4300	6503	PSD4	SO:0001589	frameshift_variant	0				HGNC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1212delT	2.37:g.113942980delT	ENSP00000245796:p.Pro404fs	Somatic	0	51	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Frame_Shift_Del	DEL							pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.W406fs	ENST00000245796.6	37	c.1212	CCDS33276.1	2																																																																																			-	NULL		0.567	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	protein_coding	OTTHUMT00000330789.1	T	NM_012455			113942980	1	no_errors	ENST00000245796	ensembl	human	known	74_37	frame_shift_del	DEL	0.582	-	-	113942980	T	-	113942980	7	5	242	1	0	1	0	1	0	0	0	0	12654	1596	56	0	1222	0	PSD4	2	113942980	Frame_Shift_Del	DEL	T	TCGA-Z4-A8JB-01A-23D-A37C-09	108109454	113942980	129256393	10	19545											
CCDC93	54520	genome.wustl.edu	37	chr2	118706947	118706947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagggctgcttgctctttgtCcagtttctcactgtaagtct	10	10	3	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:118706947C>A	ENST00000376300.2	-	14	1230	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y	CCDC93_ENST00000319432.5_Missense_Mutation_p.D364Y|CCDC93_ENST00000460781.1_5'Flank	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	365								p.D365N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGCTCTTTGTCCAGTTTCTCA	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000125633						211	179	190					2																	118706947		2203	4300	6503	CCDC93	SO:0001583	missense	0			-	HGNC	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1093G>T	2.37:g.118706947C>A	ENSP00000365477:p.Asp365Tyr	Somatic	0	81	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP							pfam_DUF2037	p.D365Y	ENST00000376300.2	37	c.1093	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393317	0.83011	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19394	2.15;2.15	5.43	5.43	0.79202	.	0.159561	0.56097	D	0.000035	T	0.38692	0.1050	M	0.67953	2.075	0.48341	D	0.99963	D	0.58970	0.984	P	0.53593	0.73	T	0.10154	-1.0642	10	0.62326	D	0.03	-25.1433	17.5969	0.88014	0.0:1.0:0.0:0.0	.	365	Q567U6	CCD93_HUMAN	Y	365;364	ENSP00000365477:D365Y;ENSP00000324135:D364Y	ENSP00000324135:D364Y	D	-	1	0	CCDC93	118423417	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.249000	0.51437	2.824000	0.97209	0.655000	0.94253	GAC	-	NULL		0.443	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	protein_coding	OTTHUMT00000129615.1	C	NM_019044	-		118706947	-1	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	SNP	1.000	A	A	118706947	C	A	118706947	3	1	242	1	0	0	0	0	1	0	0	0	2874	855	30	3	846	3	CCDC93	2	118706947	Missense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	4763967	118706947	124492426	11	19546											
RUFY4	285180	genome.wustl.edu	37	chr2	218940448	218940448	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaagccgaggtgtccctGcaggacgagatcaaggtgag	16	9	1	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:218940448G>T	ENST00000344321.7	+	9	1751	c.1233G>T	c.(1231-1233)ctG>ctT	p.L411L	RUFY4_ENST00000374155.3_Silent_p.L431L|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	411							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTGTCCCTGCAGGACGAGA	0.552																																																	0								ENSG00000188282						91	87	88					2																	218940448		2032	4186	6218	RUFY4	SO:0001819	synonymous_variant	0			-	HGNC	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1233G>T	2.37:g.218940448G>T		Somatic	0	23	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q6ZR96	Silent	SNP							pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.L431	ENST00000344321.7	37	c.1293		2																																																																																			-	NULL		0.552	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	protein_coding		G	NM_198483	-		218940448	1	no_errors	ENST00000374155	ensembl	human	known	74_37	silent	SNP	0.998	T	T	218940448	G	T	218940448	2	4	242	1	0	0	0	0	0	0	0	1	13749	1306	46	3		3	RUFY4	2	218940448	Silent	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	100233501	218940448	24258925	12	19547											
ZBTB38	253461	genome.wustl.edu	37	chr3	141164143	141164143	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcaggataaacccttTgaggaagaagaaactaaaga	9	8	1	4			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr3:141164143T>A	ENST00000514251.1	+	4	3192	c.2913T>A	c.(2911-2913)ttT>ttA	p.F971L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.F971L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.F972L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATAAACCCTTTGAGGAAGAAG	0.532																																																	0								ENSG00000177311						29	30	30					3																	141164143		1913	4135	6048	ZBTB38	SO:0001583	missense	0			-	HGNC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2913T>A	3.37:g.141164143T>A	ENSP00000426387:p.Phe971Leu	Somatic	0	22	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F972L	ENST00000514251.1	37	c.2916	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	T	0.411	-0.913117	0.02415	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08282	3.11;3.11;3.11	5.65	-9.84	0.00479	.	0.802999	0.10789	N	0.633996	T	0.03564	0.0102	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	0.44513	-0.9323	9	.	.	.	-1.6693	16.6035	0.84822	0.0:0.6322:0.1746:0.1932	.	972;971	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	971;971;972	ENSP00000426387:F971L;ENSP00000406955:F971L;ENSP00000372635:F972L	.	F	+	3	2	ZBTB38	142646833	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-2.394000	0.01054	-2.128000	0.00818	-0.911000	0.02809	TTT	-	NULL		0.532	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	protein_coding	OTTHUMT00000359329.2	T		-		141164143	1	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	SNP	0.000	A	A	141164143	T	A	141164143	3	1	242	1	0	0	0	0	1	0	0	0	17546	1809	63	5	2915	5	ZBTB38	3	141164143	Missense_Mutation	SNP	T	TCGA-Z4-A8JB-01A-23D-A37C-09		141164143	56858287	13	19548											
C6orf10	10665	genome.wustl.edu	37	chr6	32322900	32322900	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaccacaaagcacttaCctagagagttggttgatggt	10	7	0	3			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr6:32322900C>T	ENST00000447241.2	-	8	432		c.e8+1		C6orf10_ENST00000527965.1_Splice_Site|RNU6-603P_ENST00000411403.1_RNA|C6orf10_ENST00000375007.4_Splice_Site|C6orf10_ENST00000533191.1_Splice_Site|C6orf10_ENST00000442822.2_Splice_Site|C6orf10_ENST00000375015.4_Splice_Site	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10							integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AAAGCACTTACCTAGAGAGTT	0.338																																																	0								ENSG00000204296						73	67	69					6																	32322900		1511	2709	4220	C6orf10	SO:0001630	splice_region_variant	0			-	HGNC	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.259+1G>A	6.37:g.32322900C>T		Somatic	0	39	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Splice_Site	SNP							-	e8+1	ENST00000447241.2	37	c.259+1	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944424	0.53079	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000532023;ENST00000534588	.	.	.	4.02	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7718	0.40593	0.0:0.79:0.21:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf10	32430878	0.996000	0.38824	0.991000	0.47740	0.947000	0.59692	1.559000	0.36320	1.246000	0.43901	0.650000	0.86243	.	-	-		0.338	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	protein_coding	OTTHUMT00000076178.4	C	NM_006781	-	Intron	32322900	-1	no_errors	ENST00000447241	ensembl	human	known	74_37	splice_site	SNP	0.992	T	T	32322900	C	T	32322900	5	4	242	1	0	0	0	0	0	0	1	0	2319	521	18	2	1199	2	C6orf10	6	32322900	Splice_Site	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09		32322900	138792167	14	19549											
ROS1	6098	genome.wustl.edu	37	chr6	117678005	117678005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggttgcagaattcggtGcaaggtgtgactgataatac	14	5	0	3			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr6:117678005G>T	ENST00000368508.3	-	25	4126	c.3928C>A	c.(3928-3930)Cac>Aac	p.H1310N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H1305N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1310					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGAATTCGGTGCAAGGTGTGA	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0								ENSG00000047936						187	161	170					6																	117678005		2203	4300	6503	ROS1	SO:0001583	missense	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3928C>A	6.37:g.117678005G>T	ENSP00000357494:p.His1310Asn	Somatic	0	69	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q15368|Q5TDB5	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H1310N	ENST00000368508.3	37	c.3928	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986424	0.02180	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91011	-2.77;-2.77	5.08	4.2	0.49525	.	0.371554	0.26023	N	0.026810	T	0.68568	0.3015	N	0.19112	0.55	0.80722	D	1	B	0.26935	0.164	B	0.22601	0.04	T	0.65631	-0.6121	10	0.15952	T	0.53	.	8.369	0.32404	0.0826:0.0:0.7529:0.1645	.	1310	P08922	ROS1_HUMAN	N	1310;1305	ENSP00000357494:H1310N;ENSP00000357493:H1305N	ENSP00000357493:H1305N	H	-	1	0	ROS1	117784698	0.995000	0.38212	0.856000	0.33681	0.008000	0.06430	1.895000	0.39778	1.422000	0.47177	0.655000	0.94253	CAC	-	NULL		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G		-		117678005	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	SNP	0.975	T	T	117678005	G	T	117678005	3	4	242	1	0	0	0	0	1	0	0	0	13539	1319	46	3	3191	3	ROS1	6	117678005	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	85355105	117678005	53437062	15	19550											
SERAC1	84947	genome.wustl.edu	37	chr6	158569980	158569980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttttcttgcctgccagGcaatacctaaaatgattata	6	9	2	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr6:158569980G>A	ENST00000367104.3	-	5	403	c.272C>T	c.(271-273)gCc>gTc	p.A91V	SERAC1_ENST00000607000.1_Missense_Mutation_p.A91V|SERAC1_ENST00000367102.2_Missense_Mutation_p.A91V|SERAC1_ENST00000367101.1_Missense_Mutation_p.A91V	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	91					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGCCTGCCAGGCAATACCTAA	0.363																																																	0								ENSG00000122335						122	96	105					6																	158569980		2202	4300	6502	SERAC1	SO:0001583	missense	0			-	HGNC	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.272C>T	6.37:g.158569980G>A	ENSP00000356071:p.Ala91Val	Somatic	0	75	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP							pfam_PGAP1-like,superfamily_ARM-type_fold	p.A91V	ENST00000367104.3	37	c.272	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903444	0.17760	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.42900	0.96;0.96;0.96	5.27	0.0103	0.14083	.	0.658124	0.16417	N	0.215346	T	0.04003	0.0112	N	0.02011	-0.69	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	10	0.07813	T	0.8	-0.0556	9.2479	0.37539	0.419:0.0:0.581:0.0	.	91	Q96JX3	SRAC1_HUMAN	V	91	ENSP00000356069:A91V;ENSP00000356071:A91V;ENSP00000356068:A91V	ENSP00000356068:A91V	A	-	2	0	SERAC1	158489968	0.990000	0.36364	0.572000	0.28498	0.785000	0.44390	0.775000	0.26689	0.090000	0.17273	0.650000	0.86243	GCC	-	NULL		0.363	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	protein_coding	OTTHUMT00000042862.1	G	NM_032861	-		158569980	-1	no_errors	ENST00000367104	ensembl	human	known	74_37	missense	SNP	0.680	A	A	158569980	G	A	158569980	3	1	242	1	0	0	0	0	1	0	0	0	14082	1203	42	2	1744	2	SERAC1	6	158569980	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	40891975	158569980	12545087	16	19551											
CCDC132	55610	genome.wustl.edu	37	chr7	92938151	92938151	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtatgaatctgatgaaCaagaaaagagtgcctatcaa	8	6	3	5			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr7:92938151C>T	ENST00000305866.5	+	19	1773	c.1645C>T	c.(1645-1647)Caa>Taa	p.Q549*	CCDC132_ENST00000317751.6_Nonsense_Mutation_p.Q280*|CCDC132_ENST00000544910.1_Nonsense_Mutation_p.Q519*|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q360*|CCDC132_ENST00000535481.1_Nonsense_Mutation_p.Q269*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	549						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCTGATGAACAAGAAAAGAG	0.408																																																	0								ENSG00000004766						113	105	107					7																	92938151		1880	4113	5993	CCDC132	SO:0001587	stop_gained	0			-	HGNC	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1645C>T	7.37:g.92938151C>T	ENSP00000307666:p.Gln549*	Somatic	0	49	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP							pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.Q549*	ENST00000305866.5	37	c.1645	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.418281	0.96092	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	.	.	.	5.31	5.31	0.75309	.	0.075582	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	2.6215	19.3667	0.94466	0.0:1.0:0.0:0.0	.	.	.	.	X	549;519;360;269;280	.	ENSP00000307666:Q549X	Q	+	1	0	CCDC132	92776087	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.797000	0.62503	2.655000	0.90218	0.650000	0.86243	CAA	-	NULL		0.408	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	protein_coding	OTTHUMT00000341687.1	C	NM_017667	-		92938151	1	no_errors	ENST00000305866	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	92938151	C	T	92938151	4	4	242	1	0	0	0	0	0	1	0	0	2769	479	17	2	1761	2	CCDC132	7	92938151	Nonsense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09		92938151	66200512	17	19552											
KCND2	3751	genome.wustl.edu	37	chr7	120382581	120382581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctcagaggatgagcaGgcttttgttagcaaatccgg	12	9	1	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr7:120382581G>T	ENST00000331113.4	+	4	2357	c.1392G>T	c.(1390-1392)caG>caT	p.Q464H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	464				Q -> P (in Ref. 1; AAD22053). {ECO:0000305}.	action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGGATGAGCAGGCTTTTGTTA	0.463																																																	0								ENSG00000184408						152	151	151					7																	120382581		2203	4300	6503	KCND2	SO:0001583	missense	0			-	HGNC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1392G>T	7.37:g.120382581G>T	ENSP00000333496:p.Gln464His	Somatic	0	55	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP							pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.Q464H	ENST00000331113.4	37	c.1392	CCDS5776.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030339|3.030339	0.54790|0.54790	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000331113|ENST00000425288	D|.	0.83591|.	-1.74|.	5.4|5.4	1.19|1.19	0.21007|0.21007	Potassium channel, voltage dependent, Kv4, C-terminal (1);|.	0.234811|.	0.35013|.	N|.	0.003503|.	T|T	0.37404|0.37404	0.1002|0.1002	L|L	0.38531|0.38531	1.155|1.155	0.24376|0.24376	N|N	0.994812|0.994812	P|.	0.45011|.	0.848|.	P|.	0.50860|.	0.652|.	T|T	0.28299|0.28299	-1.0048|-1.0048	9|5	.|.	.|.	.|.	.|.	11.7232|11.7232	0.51693|0.51693	0.2395:0.0:0.7605:0.0|0.2395:0.0:0.7605:0.0	.|.	464|.	Q9NZV8|.	KCND2_HUMAN|.	H|M	464|50	ENSP00000333496:Q464H|.	.|.	Q|R	+|+	3|2	2|0	KCND2|KCND2	120169817|120169817	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.961000|0.961000	0.63080|0.63080	0.667000|0.667000	0.25112|0.25112	0.007000|0.007000	0.14760|0.14760	0.557000|0.557000	0.71058|0.71058	CAG|AGG	-	pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4.2		0.463	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	G	NM_012281	-		120382581	1	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	SNP	1.000	T	T	120382581	G	T	120382581	3	4	242	1	0	0	0	0	1	0	0	0	8021	991	35	3	1406	3	KCND2	7	120382581	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	27444430	120382581	38756082	18	19553											
CSMD1	64478	genome.wustl.edu	37	chr8	2831976	2831976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgtaagcccctcacctgTgcagtggggcagtgccccgc	12	16	1	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr8:2831976T>C	ENST00000520002.1	-	57	9295	c.8740A>G	c.(8740-8742)Aca>Gca	p.T2914A	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2856A|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2856A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2855A|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2914A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2913A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2914	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		CCCTCACCTGTGCAGTGGGGC	0.473																																																	0								ENSG00000183117						49	49	49					8																	2831976		1970	4150	6120	CSMD1	SO:0001583	missense	0			-	HGNC			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.8740A>G	8.37:g.2831976T>C	ENSP00000430733:p.Thr2914Ala	Somatic	0	49	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2914A	ENST00000520002.1	37	c.8740		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.019|7.019	0.558268|0.558268	0.13436|0.13436	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.73363	.|-0.74;-0.74;-0.74;-0.74	5.57|5.57	3.03|3.03	0.35002|0.35002	.|Complement control module (1);Sushi/SCR/CCP (1);	.|0.247190	.|0.34531	.|N	.|0.003895	T|T	0.58104|0.58104	0.2099|0.2099	N|N	0.25825|0.25825	0.765|0.765	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25312	.|0.005;0.0;0.123	.|B;B;B	.|0.29942	.|0.004;0.001;0.109	T|T	0.44937|0.44937	-0.9295|-0.9295	5|10	.|0.10377	.|T	.|0.69	.|.	9.9726|9.9726	0.41763|0.41763	0.6997:0.0:0.0:0.3002|0.6997:0.0:0.0:0.3002	.|.	.|2914;2914;2855	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	R|A	2330|2856;2914;2775;2913;2855	.|ENSP00000383047:T2856A;ENSP00000430733:T2914A;ENSP00000441462:T2913A;ENSP00000446243:T2855A	.|ENSP00000320445:T2775A	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2819383|2819383	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.193000|0.193000	0.23685|0.23685	2.435000|2.435000	0.44811|0.44811	0.906000|0.906000	0.36621|0.36621	0.482000|0.482000	0.46254|0.46254	CAC|ACA	-	pfscan_Sushi_SCR_CCP		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	T	NM_033225	-		2831976	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.972	C	C	2831976	T	C	2831976	3	2	242	1	0	0	0	0	1	0	0	0	3946	1696	59	5	2017	5	CSMD1	8	2831976	Missense_Mutation	SNP	T	TCGA-Z4-A8JB-01A-23D-A37C-09		2831976	143532046	19	19554											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110416813	110416813	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcttgctgcaggagtaCagattaagtgcatttgttga	11	5	1	2	rs1457286	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr8:110416813C>A	ENST00000378402.5	+	15	1508	c.1404C>A	c.(1402-1404)taC>taA	p.Y468*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	468					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)			TGCAGGAGTACAGATTAAGTG	0.313										HNSCC(38;0.096)																																							0								ENSG00000205038						99	92	94					8																	110416813		1863	4104	5967	PKHD1L1	SO:0001587	stop_gained	0			-	HGNC	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.1404C>A	8.37:g.110416813C>A	ENSP00000367655:p.Tyr468*	Somatic	0	49	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	Q567P2|Q9UF27	Nonsense_Mutation	SNP							pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Y468*	ENST00000378402.5	37	c.1404	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473304	0.43942	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.45	-7.13	0.01532	.	0.165913	0.41194	D	0.000936	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2788	0.87122	0.0:0.5819:0.0:0.4181	.	.	.	.	X	468	.	ENSP00000367655:Y468X	Y	+	3	2	PKHD1L1	110485989	0.272000	0.24172	0.002000	0.10522	0.032000	0.12392	-0.606000	0.05654	-2.708000	0.00395	-2.988000	0.00079	TAC	-	smart_PA14		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110416813	1	no_errors	ENST00000378402	ensembl	human	known	74_37	nonsense	SNP	0.005	A	A	110416813	C	A	110416813	4	1	242	1	0	0	0	0	0	1	0	0	11974	489	17	3	1462	3	PKHD1L1	8	110416813	Nonsense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	107584837	110416813	35947209	20	19555											
FAM120A	23196	genome.wustl.edu	37	chr9	96259883	96259884	+	Splice_Site	INS	-	-	A													gttttccagcattcacaggtINSaaaaaaaaaaacaaacaaaa					rs35062269|rs554262666|rs397936267	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:96259883_96259884insA	ENST00000277165.6	+	4	1127		c.e4+2		FAM120A_ENST00000333936.5_Splice_Site|FAM120A_ENST00000375389.3_Splice_Site|FAM120A_ENST00000340893.4_Splice_Site	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATTCACAGGTAAAAAAAAAAA	0.436													|||unknown(HR)	1255	0.250599	0.4834	0.245	5008	,	,		26167	0.1835		0.1571	False		,,,				2504	0.1053																0								ENSG00000048828																																			FAM120A	SO:0001630	splice_region_variant	0				HGNC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.933+2->A	9.37:g.96259894_96259894dupA		Somatic	0	38	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Splice_Site	INS							-	e4+2	ENST00000277165.6	37	c.933+2_933+1	CCDS6706.1	9																																																																																			-	-		0.436	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	protein_coding	OTTHUMT00000053160.2	-	NM_014612		Intron	96259884	1	no_errors	ENST00000333936	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.997	A	A	96259884	-	A	96259883	8	5	242	1	0	1	1	0	0	0	1	0	5417	1652	57	0	949	0	FAM120A	9	96259883	Splice_Site	INS	-	TCGA-Z4-A8JB-01A-23D-A37C-09		96259883	44953548	21	19556											
ZNF462	58499	genome.wustl.edu	37	chr9	109765593	109765593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtaagccgtaactttgagCtggttggacgggttaacttg	14	6	0	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:109765593C>T	ENST00000277225.5	+	11	7364	c.7075C>T	c.(7075-7077)Ctg>Ttg	p.L2359L	ZNF462_ENST00000441147.2_Silent_p.L1265L|ZNF462_ENST00000542028.1_Silent_p.L316L|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.L2419L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2359					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)			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						TAACTTTGAGCTGGTTGGACG	0.448																																																	0								ENSG00000148143						155	141	146					9																	109765593		2203	4300	6503	ZNF462	SO:0001819	synonymous_variant	0			-	HGNC	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.7075C>T	9.37:g.109765593C>T		Somatic	0	62	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5T0T4|Q8N408	Silent	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L2419	ENST00000277225.5	37	c.7255	CCDS35096.1	9																																																																																			-	NULL		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	C	NM_021224	-		109765593	1	no_errors	ENST00000457913	ensembl	human	known	74_37	silent	SNP	1.000	T	T	109765593	C	T	109765593	2	4	242	1	0	0	0	0	0	0	0	1	17933	796	28	2		2	ZNF462	9	109765593	Silent	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	13505710	109765593	31447838	22	19557											
ABCA2	20	genome.wustl.edu	37	chr9	139915890	139915890	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggttccggagctcagcaGacagcccagagaagcgcctg	14	13	1	2	rs201265841		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:139915890G>A	ENST00000371605.3	-	7	995	c.848C>T	c.(847-849)tCt>tTt	p.S283F	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.S284F|ABCA2_ENST00000265662.5_Missense_Mutation_p.S284F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	283					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGCTCAGCAGACAGCCCAGA	0.667																																																	0								ENSG00000107331						26	36	32					9																	139915890		2187	4291	6478	ABCA2	SO:0001583	missense	0			-	HGNC	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.848C>T	9.37:g.139915890G>A	ENSP00000360666:p.Ser283Phe	Somatic	0	21	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP							pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S284F	ENST00000371605.3	37	c.851		9	.	.	.	.	.	.	.	.	.	.	g	11.04	1.522613	0.27211	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88124	-2.34;-2.34;-2.34	3.94	3.94	0.45596	.	11.201900	0.01921	U	0.040492	D	0.84871	0.5568	N	0.19112	0.55	0.30647	N	0.755852	B;P;B	0.37955	0.303;0.612;0.214	B;B;B	0.41088	0.241;0.347;0.136	T	0.76233	-0.3034	10	0.66056	D	0.02	.	14.7387	0.69437	0.0:0.0:1.0:0.0	.	283;313;314	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	F	284;283;314;284	ENSP00000265662:S284F;ENSP00000360666:S283F;ENSP00000344155:S284F	ENSP00000265662:S284F	S	-	2	0	ABCA2	139035711	0.999000	0.42202	0.015000	0.15790	0.021000	0.10359	3.171000	0.50824	1.735000	0.51646	0.197000	0.17608	TCT	-	NULL		0.667	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	protein_coding		G	NM_001606	-		139915890	-1	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	SNP	0.986	A	A	139915890	G	A	139915890	3	1	242	1	0	0	0	0	1	0	0	0	32	942	33	2	6627	2	ABCA2	9	139915890	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	30150297	139915890	1297541	23	19558											
NRBF2	29982	genome.wustl.edu	37	chr10	64913658	64913658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagatttgaagaggcatGtggaattccttgtggctgag	14	5	0	4			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:64913658G>T	ENST00000277746.6	+	4	725	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	NRBF2_ENST00000435510.2_Missense_Mutation_p.V172L	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	182					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAAGAGGCATGTGGAATTCCT	0.403																																																	0								ENSG00000148572						28	31	30					10																	64913658		2189	4294	6483	NRBF2	SO:0001583	missense	0			-	HGNC	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"comodulator of PPAR and RXR 1", "comodulator of PPAR and RXR 2"					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.544G>T	10.37:g.64913658G>T	ENSP00000277746:p.Val182Leu	Somatic	0	77	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Missense_Mutation	SNP							pfam_DUF1875	p.V182L	ENST00000277746.6	37	c.544	CCDS7268.1	10	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775149	0.70107	.	.	ENSG00000148572	ENST00000277746;ENST00000395241;ENST00000435510	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.76002	2.32	0.58432	D	0.999994	P;D	0.58620	0.918;0.983	P;P	0.57371	0.577;0.819	T	0.77680	-0.2497	9	0.72032	D	0.01	-19.1692	15.1349	0.72555	0.0693:0.0:0.9307:0.0	.	172;182	B4DWS0;Q96F24	.;NRBF2_HUMAN	L	182;132;172	.	ENSP00000277746:V182L	V	+	1	0	NRBF2	64583664	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	6.907000	0.75724	2.744000	0.94065	0.563000	0.77884	GTG	-	pfam_DUF1875		0.403	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBF2	protein_coding	OTTHUMT00000048247.1	G	NM_030759	-		64913658	1	no_errors	ENST00000277746	ensembl	human	known	74_37	missense	SNP	1.000	T	T	64913658	G	T	64913658	3	4	242	1	0	0	0	0	1	0	0	0	10643	1377	48	3	558	3	NRBF2	10	64913658	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09		64913658	70621089	24	19559											
CUTC	51076	genome.wustl.edu	37	chr10	101503811	101503811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctatttgccgccctctgCcagtcactttccaccgaggt	8	15	2	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:101503811C>T	ENST00000370476.5	+	5	550	c.421C>T	c.(421-423)Cca>Tca	p.P141S		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	141					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCGCCCTCTGCCAGTCACTTT	0.348																																																	0								ENSG00000119929						134	126	129					10																	101503811		2203	4300	6503	CUTC	SO:0001583	missense	0			-	HGNC	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.421C>T	10.37:g.101503811C>T	ENSP00000359507:p.Pro141Ser	Somatic	0	59	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5TCZ8|Q9Y321	Missense_Mutation	SNP							pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	p.P141S	ENST00000370476.5	37	c.421	CCDS7483.1	10	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140601	0.37825	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	4.97	4.97	0.65823	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	L	0.45698	1.435	0.80722	D	1	D;P	0.63046	0.992;0.92	P;P	0.59288	0.855;0.565	T	0.56147	-0.8027	9	0.10377	T	0.69	-14.6417	18.7716	0.91894	0.0:1.0:0.0:0.0	.	141;141	B4DYM2;Q9NTM9	.;CUTC_HUMAN	S	141;78	.	ENSP00000359503:P78S	P	+	1	0	CUTC	101493801	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.643000	0.74334	2.727000	0.93392	0.591000	0.81541	CCA	-	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom		0.348	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTC	protein_coding	OTTHUMT00000049811.1	C	NM_015960	-		101503811	1	no_errors	ENST00000370476	ensembl	human	known	74_37	missense	SNP	1.000	T	T	101503811	C	T	101503811	3	4	242	1	0	0	0	0	1	0	0	0	4065	739	26	2	439	2	CUTC	10	101503811	Missense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	36590153	101503811	34030936	25	19560											
ZDHHC6	64429	genome.wustl.edu	37	chr10	114194138	114194138	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaccacgtaaatacctGtttaaagttcctccatctac	4	14	1	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:114194138G>A	ENST00000369405.3	-	7	1243	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	ZDHHC6_ENST00000482410.1_5'Flank|ZDHHC6_ENST00000369404.3_Nonsense_Mutation_p.Q270*	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	274					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GTAAATACCTGTTTAAAGTTC	0.403																																																	0								ENSG00000023041						113	104	107					10																	114194138		2203	4300	6503	ZDHHC6	SO:0001587	stop_gained	0			-	HGNC	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.820C>T	10.37:g.114194138G>A	ENSP00000358413:p.Gln274*	Somatic	0	60	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	D3DRB6|Q53G45|Q96IV7|Q9H605	Nonsense_Mutation	SNP							pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.Q274*	ENST00000369405.3	37	c.820	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	G	41	9.140292	0.99078	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	.	.	.	5.69	4.78	0.61160	.	0.112422	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.2711	16.3159	0.82928	0.0:0.0:0.8665:0.1335	.	.	.	.	X	274;270	.	ENSP00000358412:Q270X	Q	-	1	0	ZDHHC6	114184128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.696000	0.98695	1.519000	0.48950	0.650000	0.86243	CAG	-	NULL		0.403	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	protein_coding	OTTHUMT00000050393.1	G	NM_022494	-		114194138	-1	no_errors	ENST00000369405	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	114194138	G	A	114194138	4	1	242	1	0	0	0	0	0	1	0	0	17626	1386	48	2	441	2	ZDHHC6	10	114194138	Nonsense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	12690327	114194138	21340609	26	19561											
ATRNL1	26033	genome.wustl.edu	37	chr10	117308997	117308997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttattgctggtggctgCtgtggtatggaagatcaaac	12	7	1	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:117308997C>T	ENST00000355044.3	+	26	3872	c.3746C>T	c.(3745-3747)gCt>gTt	p.A1249V	ATRNL1_ENST00000303745.7_Missense_Mutation_p.A42V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.A300V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1249					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)	p.A1249V(1)		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)		CTGGTGGCTGCTGTGGTATGG	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000107518						126	121	123					10																	117308997		2203	4300	6503	ATRNL1	SO:0001583	missense	0			-	HGNC	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.3746C>T	10.37:g.117308997C>T	ENSP00000347152:p.Ala1249Val	Somatic	0	55	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP							pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1249V	ENST00000355044.3	37	c.3746	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964318	0.74131	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.53857	0.6;0.6;0.6	5.54	5.54	0.83059	.	0.109297	0.64402	D	0.000010	T	0.59998	0.2235	L	0.28192	0.835	0.36899	D	0.890281	P;D	0.63880	0.689;0.993	B;D	0.72625	0.223;0.978	T	0.59815	-0.7383	10	0.25106	T	0.35	-14.0925	17.2741	0.87110	0.0:1.0:0.0:0.0	.	300;1249	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1249;300;42	ENSP00000347152:A1249V;ENSP00000409624:A300V;ENSP00000307660:A42V	ENSP00000307660:A42V	A	+	2	0	ATRNL1	117298987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.179000	0.65043	2.617000	0.88574	0.591000	0.81541	GCT	-	NULL		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	C	XM_049349	-		117308997	1	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	SNP	1.000	T	T	117308997	C	T	117308997	3	4	242	1	0	0	0	0	1	0	0	0	1207	797	28	2	3848	2	ATRNL1	10	117308997	Missense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	3114859	117308997	18225750	27	19562											
ROBO3	64221	genome.wustl.edu	37	chr11	124742797	124742797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctttggatgggctgCctcctgtcatcctccaggga	11	14	2	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr11:124742797C>T	ENST00000397801.1	+	9	1540	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	ROBO3_ENST00000538940.1_Missense_Mutation_p.P428S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	450	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGATGGGCTGCCTCCTGTCAT	0.627																																																	0								ENSG00000154134						24	27	26					11																	124742797		1987	4163	6150	ROBO3	SO:0001583	missense	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1348C>T	11.37:g.124742797C>T	ENSP00000380903:p.Pro450Ser	Somatic	0	57	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP							pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P450S	ENST00000397801.1	37	c.1348	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545721	0.86022	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.40476	1.03;1.03	4.56	4.56	0.56223	Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000976	T	0.63593	0.2524	M	0.74467	2.265	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	T	0.69544	-0.5117	10	0.87932	D	0	.	17.1048	0.86659	0.0:1.0:0.0:0.0	.	450	Q96MS0	ROBO3_HUMAN	S	450;428	ENSP00000380903:P450S;ENSP00000441797:P428S	ENSP00000380903:P450S	P	+	1	0	ROBO3	124248007	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.380000	0.79704	2.359000	0.80004	0.462000	0.41574	CCT	-	NULL		0.627	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	C	XM_370663	-		124742797	1	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	SNP	1.000	T	T	124742797	C	T	124742797	3	4	242	1	0	0	0	0	1	0	0	0	13523	739	26	2	1382	2	ROBO3	11	124742797	Missense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09		124742797	10263719	28	19563											
CDON	50937	genome.wustl.edu	37	chr11	125831880	125831880	+	Frame_Shift_Del	DEL	T	T	-													gctgctgaaagtgctgttggTtttggtgaaacacctgcaga							TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr11:125831880delT	ENST00000392693.3	-	19	3497	c.3370delA	c.(3370-3372)accfs	p.T1124fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.T1124fs|CDON_ENST00000531738.1_Frame_Shift_Del_p.T501fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1124					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)		GTGCTGTTGGTTTTGGTGAAA	0.433																																																	0								ENSG00000064309						56	57	57					11																	125831880		2201	4299	6500	CDON	SO:0001589	frameshift_variant	0				HGNC	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.3370delA	11.37:g.125831880delT	ENSP00000376458:p.Thr1124fs	Somatic	0	34	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	O14631	Frame_Shift_Del	DEL							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1124fs	ENST00000392693.3	37	c.3370	CCDS58192.1	11																																																																																			-	NULL		0.433	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	T	NM_016952			125831880	-1	no_errors	ENST00000392693	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	125831880	T	-	125831880	7	5	242	1	0	1	0	1	0	0	0	0	3172	1725	60	0	432	0	CDON	11	125831880	Frame_Shift_Del	DEL	T	TCGA-Z4-A8JB-01A-23D-A37C-09	1089083	125831880	9174636	29	19564											
C12orf50	160419	genome.wustl.edu	37	chr12	88388424	88388424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcacctccattttcaaaaGcagcaatgtcagtctttggt	6	11	4	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr12:88388424G>T	ENST00000298699.2	-	7	758	c.578C>A	c.(577-579)gCt>gAt	p.A193D	C12orf50_ENST00000550553.1_Missense_Mutation_p.A193D	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	193										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTTCAAAAGCAGCAATGTC	0.328																																																	0								ENSG00000165805						160	144	149					12																	88388424		2201	4300	6501	C12orf50	SO:0001583	missense	0			-	HGNC	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.578C>A	12.37:g.88388424G>T	ENSP00000298699:p.Ala193Asp	Somatic	0	76	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q6P674	Missense_Mutation	SNP							NULL	p.A193D	ENST00000298699.2	37	c.578	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023266	0.75275	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.38240	1.15;1.19	4.93	4.93	0.64822	.	0.512935	0.19428	N	0.114524	T	0.53012	0.1770	M	0.73962	2.25	0.37517	D	0.917375	D;P	0.57571	0.98;0.879	P;P	0.53649	0.731;0.626	T	0.63668	-0.6585	10	0.72032	D	0.01	.	15.4227	0.75025	0.0:0.0:1.0:0.0	.	247;193	G3V208;Q8NA57	.;CL050_HUMAN	D	193;193;247	ENSP00000298699:A193D;ENSP00000448344:A193D	ENSP00000298699:A193D	A	-	2	0	C12orf50	86912555	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.119000	0.64679	2.455000	0.83008	0.460000	0.39030	GCT	-	NULL		0.328	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	protein_coding	OTTHUMT00000406328.1	G	NM_152589	-		88388424	-1	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	SNP	1.000	T	T	88388424	G	T	88388424	3	4	242	1	0	0	0	0	1	0	0	0	1697	971	34	3	694	3	C12orf50	12	88388424	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09		88388424	45463471	30	19565											
TRPM1	4308	genome.wustl.edu	37	chr15	31341608	31341608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctccagcctcggaatGgtcagaaagtgttgcatgtt	11	10	1	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:31341608G>A	ENST00000256552.6	-	13	1689	c.1542C>T	c.(1540-1542)acC>acT	p.T514T	TRPM1_ENST00000542188.1_Silent_p.T531T|TRPM1_ENST00000397795.2_Silent_p.T492T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCTCGGAATGGTCAGAAAGT	0.463																																																	0								ENSG00000134160						152	145	147					15																	31341608		1985	4157	6142	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1542C>T	15.37:g.31341608G>A		Somatic	0	47	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Silent	SNP							pfam_Ion_trans_dom	p.T531	ENST00000256552.6	37	c.1593	CCDS58346.1	15																																																																																			-	NULL		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31341608	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.991	A	A	31341608	G	A	31341608	2	1	242	1	0	0	0	0	0	0	0	1	16592	1335	47	2		2	TRPM1	15	31341608	Silent	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09		31341608	71189784	31	19566											
MGA	23269	genome.wustl.edu	37	chr15	42003273	42003273	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgattctaggagataAggttaccaagaattcttcag	9	6	4	3			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:42003273A>T	ENST00000570161.1	+	7	2810	c.2810A>T	c.(2809-2811)aAg>aTg	p.K937M	MGA_ENST00000545763.1_Missense_Mutation_p.K937M|MGA_ENST00000219905.7_Missense_Mutation_p.K937M|MGA_ENST00000566586.1_Missense_Mutation_p.K937M|MGA_ENST00000389936.4_Missense_Mutation_p.K937M			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)	CTAGGAGATAAGGTTACCAAG	0.368																																																	0								ENSG00000174197						141	140	140					15																	42003273		1895	4128	6023	MGA	SO:0001583	missense	0			-	HGNC	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.2810A>T	15.37:g.42003273A>T	ENSP00000457035:p.Lys937Met	Somatic	0	45	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP							pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.K937M	ENST00000570161.1	37	c.2810	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580018	0.65992	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18657	2.2;2.2;2.2	5.84	4.7	0.59300	.	0.446931	0.23602	N	0.046429	T	0.22742	0.0549	L	0.27053	0.805	0.34948	D	0.751007	D;D	0.63046	0.963;0.992	P;P	0.53102	0.718;0.671	T	0.30822	-0.9965	10	0.87932	D	0	.	8.4658	0.32956	0.8458:0.0:0.1542:0.0	.	937;937	F5H7K2;E7ENI0	.;.	M	937	ENSP00000219905:K937M;ENSP00000374586:K937M;ENSP00000442467:K937M	ENSP00000219905:K937M	K	+	2	0	MGA	39790565	0.816000	0.29132	0.951000	0.38953	0.965000	0.64279	1.407000	0.34657	1.031000	0.39867	0.533000	0.62120	AAG	-	NULL		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	A	NM_001164273.1	-		42003273	1	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	SNP	0.966	T	T	42003273	A	T	42003273	3	4	242	1	0	0	0	0	1	0	0	0	9542	72	3	5	2836	5	MGA	15	42003273	Missense_Mutation	SNP	A	TCGA-Z4-A8JB-01A-23D-A37C-09	10661665	42003273	60528119	32	19567											
PRTG	283659	genome.wustl.edu	37	chr15	55970112	55970112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcagcatgtacattataggGagcactgggtctgtcttctg	11	8	4	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:55970112G>T	ENST00000389286.4	-	8	1311	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACATTATAGGGAGCACTGGGT	0.423																																																	0								ENSG00000166450						112	104	107					15																	55970112		1890	4120	6010	PRTG	SO:0001583	missense	0			-	HGNC	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1264C>A	15.37:g.55970112G>T	ENSP00000373937:p.Pro422Thr	Somatic	0	55	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64		Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P422T	ENST00000389286.4	37	c.1264	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087443	0.76642	.	.	ENSG00000166450	ENST00000389286	T	0.79845	-1.31	4.85	4.85	0.62838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050722	0.85682	D	0.000000	D	0.91811	0.7409	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	-15.2361	17.3567	0.87338	0.0:0.0:1.0:0.0	.	422	Q2VWP7	PRTG_HUMAN	T	422	ENSP00000373937:P422T	ENSP00000373937:P422T	P	-	1	0	PRTG	53757404	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.738000	0.98835	2.395000	0.81488	0.555000	0.69702	CCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	protein_coding	OTTHUMT00000419357.1	G	NM_173814	-		55970112	-1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	SNP	1.000	T	T	55970112	G	T	55970112	3	4	242	1	0	0	0	0	1	0	0	0	12643	1174	41	3	2240	3	PRTG	15	55970112	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	13966839	55970112	46561280	33	19568											
PRC1	9055	genome.wustl.edu	37	chr15	91510426	91510426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatttggaagcctttgaaaGttctcgctgttgaaaaataa	9	5	1	3			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:91510426G>T	ENST00000361188.5	-	14	2967	c.1756C>A	c.(1756-1758)Ctt>Att	p.L586I	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.L600I|PRC1_ENST00000442656.2_Missense_Mutation_p.T519N|PRC1_ENST00000361919.3_Missense_Mutation_p.T560N					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCTTTGAAAGTTCTCGCTGT	0.453																																																	0								ENSG00000198901						113	109	110					15																	91510426		2198	4298	6496	PRC1	SO:0001583	missense	0			-	HGNC	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1756C>A	15.37:g.91510426G>T	ENSP00000354679:p.Leu586Ile	Somatic	0	43	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Missense_Mutation	SNP							pfam_MAP65_Ase1_PRC1	p.L600I	ENST00000361188.5	37	c.1798	CCDS45352.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.928654|4.928654	0.92389|0.92389	.|.	.|.	ENSG00000198901|ENSG00000198901	ENST00000394249;ENST00000361188|ENST00000361919;ENST00000442656	T;T|T;T	0.33865|0.31247	1.39;1.57|1.5;1.5	5.5|5.5	4.58|4.58	0.56647|0.56647	.|.	0.061995|.	0.64402|.	D|.	0.000006|.	T|T	0.40015|0.40015	0.1100|0.1100	M|M	0.63428|0.63428	1.95|1.95	0.29457|0.29457	N|N	0.858024|0.858024	D;D|P;P	0.65815|0.49559	0.982;0.995|0.925;0.925	P;D|P;P	0.64321|0.48227	0.814;0.924|0.571;0.571	T|T	0.32981|0.32981	-0.9886|-0.9886	10|9	0.28530|0.35671	T|T	0.3|0.21	-8.57|-8.57	14.3402|14.3402	0.66619|0.66619	0.0716:0.0:0.9284:0.0|0.0716:0.0:0.9284:0.0	.|.	556;600|519;560	O43663-2;O43663|O43663-3;F8W9B5	.;PRC1_HUMAN|.;.	I|N	600;586|560;519	ENSP00000377793:L600I;ENSP00000354679:L586I|ENSP00000354618:T560N;ENSP00000409549:T519N	ENSP00000354679:L586I|ENSP00000354618:T560N	L|T	-|-	1|2	0|0	PRC1|PRC1	89311430|89311430	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	8.271000|8.271000	0.89883|0.89883	1.570000|1.570000	0.49709|0.49709	0.644000|0.644000	0.83932|0.83932	CTT|ACT	-	pfam_MAP65_Ase1_PRC1		0.453	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	protein_coding	OTTHUMT00000414760.1	G	NM_003981	-		91510426	-1	no_errors	ENST00000394249	ensembl	human	known	74_37	missense	SNP	1.000	T	T	91510426	G	T	91510426	3	4	242	1	0	0	0	0	1	0	0	0	12451	1029	36	3	68	3	PRC1	15	91510426	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	35540314	91510426	11020966	34	19569											
NOL4	8715	genome.wustl.edu	37	chr18	31523144	31523145	+	Splice_Site	INS	-	-	A													ggaaggaataggtcgagactINSaaaaaaaaaaagagaaaagt					rs530792420		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr18:31523144_31523145insA	ENST00000261592.5	-	9	1726		c.e9-2		NOL4_ENST00000535384.1_Splice_Site|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000535475.1_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.?(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGTCGAGACTAAAAAAAAAAA	0.406																																																	2	Unknown(2)	ovary(1)|lung(1)						ENSG00000101746																																			NOL4	SO:0001630	splice_region_variant	0				HGNC	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1429-2->T	18.37:g.31523155_31523155dupA		Somatic	0	13	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Splice_Site	INS							-	e9-2	ENST00000261592.5	37	c.1429-3_1429-2	CCDS11907.2	18																																																																																			-	-		0.406	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	-	NM_003787		Intron	31523145	-1	no_errors	ENST00000261592	ensembl	human	known	74_37	splice_site_ins	INS	1.000:1.000	A	A	31523145	-	A	31523144	8	5	242	1	0	1	1	0	0	0	1	0	10526	1536	53	0	501	0	NOL4	18	31523144	Splice_Site	INS	-	TCGA-Z4-A8JB-01A-23D-A37C-09		31523144	46554104	35	19570											
ZNF236	7776	genome.wustl.edu	37	chr18	74607185	74607185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttcaagtgccagtactGcatgaagagcttctccacct	10	12	2	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr18:74607185G>T	ENST00000253159.8	+	10	1826	c.1628G>T	c.(1627-1629)tGc>tTc	p.C543F	ZNF236_ENST00000320610.9_Missense_Mutation_p.C545F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	543					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)			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)		TGCCAGTACTGCATGAAGAGC	0.627																																																	0								ENSG00000130856						59	65	63					18																	74607185		2199	4297	6496	ZNF236	SO:0001583	missense	0			-	HGNC	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.1628G>T	18.37:g.74607185G>T	ENSP00000253159:p.Cys543Phe	Somatic	0	25	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	B2RTX9|Q9UL37	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C543F	ENST00000253159.8	37	c.1628	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926543	0.92319	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	D;D	0.85861	-2.04;-2.04	5.48	5.48	0.80851	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	0.95768	0.8623	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97286	0.9921	10	0.87932	D	0	.	19.3447	0.94358	0.0:0.0:1.0:0.0	.	543	Q9UL36	ZN236_HUMAN	F	543	ENSP00000253159:C543F;ENSP00000444524:C543F	ENSP00000253159:C543F	C	+	2	0	ZNF236	72736173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.493000	0.97960	2.564000	0.86499	0.563000	0.77884	TGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	G		-		74607185	1	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	SNP	0.992	T	T	74607185	G	T	74607185	3	4	242	1	0	0	0	0	1	0	0	0	17796	1319	46	3	1666	3	ZNF236	18	74607185	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	43084041	74607185	3470063	36	19571											
OR7D2	162998	genome.wustl.edu	37	chr19	9297316	9297316	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtcacccccatgttgaacCccttcatctacagcctgagg	8	15	3	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:9297316C>G	ENST00000344248.2	+	1	1038	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	287					regulation of transcription, DNA-templated (GO:0006355)	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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CATGTTGAACCCCTTCATCTA	0.567																																																	0								ENSG00000188000						71	70	70					19																	9297316		2203	4300	6503	OR7D2	SO:0001583	missense	0			-	HGNC	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.859C>G	19.37:g.9297316C>G	ENSP00000345563:p.Pro287Ala	Somatic	0	48	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q6IFJ7|Q8N133	Missense_Mutation	SNP							pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P287A	ENST00000344248.2	37	c.859	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877532	0.51801	.	.	ENSG00000188000	ENST00000344248	T	0.63255	-0.03	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001304	D	0.83156	0.5193	H	0.99325	4.515	0.26975	N	0.965482	P	0.50943	0.94	P	0.54759	0.76	T	0.78753	-0.2081	10	0.87932	D	0	.	11.9676	0.53044	0.0:1.0:0.0:0.0	.	287	Q96RA2	OR7D2_HUMAN	A	287	ENSP00000345563:P287A	ENSP00000345563:P287A	P	+	1	0	OR7D2	9158316	0.993000	0.37304	1.000000	0.80357	0.771000	0.43674	3.260000	0.51523	1.578000	0.49821	0.505000	0.49811	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.567	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	protein_coding	OTTHUMT00000449002.1	C		-		9297316	1	no_errors	ENST00000344248	ensembl	human	known	74_37	missense	SNP	1.000	G	G	9297316	C	G	9297316	3	3	242	1	0	0	0	0	1	0	0	0	11221	623	22	4	861	4	OR7D2	19	9297316	Missense_Mutation	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09		9297316	49831667	37	19572											
ZNF536	9745	genome.wustl.edu	37	chr19	31039902	31039902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcatggttggctcagggGcctccagttcctgccccaac	12	15	1	0			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:31039902G>T	ENST00000355537.3	+	4	3523	c.3376G>T	c.(3376-3378)Gcc>Tcc	p.A1126S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1126					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGCTCAGGGGCCTCCAGTTC	0.552																																																	0								ENSG00000198597						69	72	71					19																	31039902		2203	4300	6503	ZNF536	SO:0001583	missense	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3376G>T	19.37:g.31039902G>T	ENSP00000347730:p.Ala1126Ser	Somatic	0	40	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2RU18	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1126S	ENST00000355537.3	37	c.3376	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.285058	0.05605	.	.	ENSG00000198597	ENST00000355537	T	0.08102	3.13	5.47	0.163	0.14986	.	0.861501	0.10508	N	0.666571	T	0.02970	0.0088	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44574	-0.9319	10	0.29301	T	0.29	-12.5182	2.659	0.05020	0.1238:0.1248:0.3698:0.3817	.	1126;1126	A7E228;O15090	.;ZN536_HUMAN	S	1126	ENSP00000347730:A1126S	ENSP00000347730:A1126S	A	+	1	0	ZNF536	35731742	0.000000	0.05858	0.846000	0.33378	0.291000	0.27294	-0.092000	0.11129	0.636000	0.30508	-0.152000	0.13540	GCC	-	NULL		0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	G	NM_014717	-		31039902	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	SNP	0.109	T	T	31039902	G	T	31039902	3	4	242	1	0	0	0	0	1	0	0	0	17981	1203	42	3	3386	3	ZNF536	19	31039902	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	21742586	31039902	28089081	38	19573											
MAP4K1	11184	genome.wustl.edu	37	chr19	39088139	39088139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaccttgccagtaggcGgtgggggctaatgtgagcga	17	8	0	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:39088139G>A	ENST00000591517.1	-	23	1793	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	MAP4K1_ENST00000423454.2_Silent_p.T230T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R585C|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R589C	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	589	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCAGTAGGCGGTGGGGGCTA	0.572																																																	0								ENSG00000104814						81	84	83					19																	39088139		2016	4163	6179	MAP4K1	SO:0001583	missense	0			-	HGNC	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1765C>T	19.37:g.39088139G>A	ENSP00000465039:p.Arg589Cys	Somatic	0	40	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83		Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R589C	ENST00000591517.1	37	c.1765	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764938	0.69878	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.75477	-0.94	5.25	4.23	0.50019	Citron-like (3);	0.258863	0.30101	N	0.010406	T	0.82263	0.4999	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.82661	-0.0347	10	0.87932	D	0	.	6.6828	0.23129	0.0884:0.0:0.736:0.1756	.	589;589	Q92918-2;Q92918	.;M4K1_HUMAN	C	589	ENSP00000380066:R589C	ENSP00000221409:R589C	R	-	1	0	MAP4K1	43779979	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.314000	0.43743	1.472000	0.48140	0.555000	0.69702	CGC	-	pfam_Citron,smart_Citron		0.572	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	protein_coding	OTTHUMT00000453390.1	G	NM_001042600	-		39088139	-1	no_errors	ENST00000591517	ensembl	human	known	74_37	missense	SNP	1.000	A	A	39088139	G	A	39088139	3	1	242	1	0	0	0	0	1	0	0	0	9261	1116	39	1	838	1	MAP4K1	19	39088139	Missense_Mutation	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	8048237	39088139	20040844	39	19574											
CD3EAP	10849	genome.wustl.edu	37	chr19	45912297	45912297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccggagatgaagcctctGgagtccccaggggggaccat	16	11	1	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:45912297G>A	ENST00000309424.3	+	3	1559	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.L359L|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	357					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGAAGCCTCTGGAGTCCCCAG	0.582																																																	0								ENSG00000117877						40	48	45					19																	45912297		2202	4299	6501	CD3EAP	SO:0001819	synonymous_variant	0			-	HGNC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1071G>A	19.37:g.45912297G>A		Somatic	0	92	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	65	9.72	Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP							pfam_DNA-dir_RNA_pol1_su_RPA34	p.L359	ENST00000309424.3	37	c.1077	CCDS12661.1	19																																																																																			-	NULL		0.582	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	protein_coding	OTTHUMT00000459538.1	G	NM_012099	-		45912297	1	no_errors	ENST00000589804	ensembl	human	known	74_37	silent	SNP	0.006	A	A	45912297	G	A	45912297	2	1	242	1	0	0	0	0	0	0	0	1	3014	1335	47	2		2	CD3EAP	19	45912297	Silent	SNP	G	TCGA-Z4-A8JB-01A-23D-A37C-09	6824158	45912297	13216686	40	19575											
ZNF671	79891	genome.wustl.edu	37	chr19	58232323	58232323	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agattagacttactgctaaaAaatttcccacatttgccaca	4	10	0	2			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:58232323A>T	ENST00000317398.6	-	4	1226	c.1131T>A	c.(1129-1131)ttT>ttA	p.F377L	ZNF671_ENST00000335820.3_Missense_Mutation_p.F279L|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTGCTAAAAAATTTCCCAC	0.463																																																	0								ENSG00000083814						71	62	65					19																	58232323		2203	4300	6503	ZNF671	SO:0001583	missense	0			-	HGNC		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1131T>A	19.37:g.58232323A>T	ENSP00000321848:p.Phe377Leu	Somatic	0	35	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	A6NF07|Q9H5E9	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F377L	ENST00000317398.6	37	c.1131	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	A	8.024	0.760290	0.15914	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.17691	2.26;2.26	1.88	-3.76	0.04359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.02708	-0.52	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.33292	-0.9874	9	0.56958	D	0.05	.	4.4482	0.11607	0.5594:0.1881:0.2525:0.0	.	377	Q8TAW3	ZN671_HUMAN	L	377;279	ENSP00000321848:F377L;ENSP00000338670:F279L	ENSP00000321848:F377L	F	-	3	2	ZNF671	62924135	0.000000	0.05858	0.021000	0.16686	0.945000	0.59286	-3.451000	0.00466	-0.927000	0.03766	-0.375000	0.07067	TTT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	protein_coding	OTTHUMT00000466817.1	A	NM_024833	-		58232323	-1	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	SNP	0.026	T	T	58232323	A	T	58232323	3	4	242	1	0	0	0	0	1	0	0	0	18085	11	1	5	477	5	ZNF671	19	58232323	Missense_Mutation	SNP	A	TCGA-Z4-A8JB-01A-23D-A37C-09	12320026	58232323	896660	41	19576											
THBD	7056	genome.wustl.edu	37	chr20	23030031	23030031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcggggcccgggtagagCgcgaagcagtcgtgctcgac	18	12	0	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr20:23030031C>T	ENST00000377103.2	-	1	347	c.111G>A	c.(109-111)gcG>gcA	p.A37A		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	37	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCGGGTAGAGCGCGAAGCAGT	0.701																																																	0								ENSG00000178726						7	9	8					20																	23030031		2153	4208	6361	THBD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.111G>A	20.37:g.23030031C>T		Somatic	0	18	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q8IV29|Q9UC32	Silent	SNP							pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.A37	ENST00000377103.2	37	c.111	CCDS13148.1	20																																																																																			-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.701	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	protein_coding	OTTHUMT00000078307.2	C		-		23030031	-1	no_errors	ENST00000377103	ensembl	human	known	74_37	silent	SNP	0.001	T	T	23030031	C	T	23030031	2	4	242	1	0	0	0	0	0	0	0	1	15859	755	27	1		1	THBD	20	23030031	Silent	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09		23030031	39995489	42	19577											
FAM120C	54954	genome.wustl.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133																0								ENSG00000184083																																			FAM120C	SO:0001652	inframe_insertion	0				HGNC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup	Somatic					0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1				B2RMT7	In_Frame_Ins	INS							NULL	p.112in_frame_insPP	ENST00000375180.2	37	c.330_329	CCDS14356.1	X																																																																																			-	NULL		0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	-	NM_017848			54209303	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	in_frame_ins	INS	0.999:0.998	GGCGGC	GGCGGC	54209303	-	GGCGGC	54209302	7	5	242	1	0	1	1	0	0	0	0	0	5420	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-Z4-A8JB-01A-23D-A37C-09		54209302	101061258	43	19578											
FAM3A	60343	genome.wustl.edu	37	chrX	153735238	153735238	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttactgttcttcacgtgCtgtggggaggggagcagaaa	15	7	2	1			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chrX:153735238C>T	ENST00000447601.2	-	9	1064		c.e9-1		FAM3A_ENST00000369641.3_Splice_Site|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000393572.1_Splice_Site|FAM3A_ENST00000359889.5_Splice_Site|FAM3A_ENST00000369643.1_Splice_Site|FAM3A_ENST00000434658.2_Splice_Site	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A							extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	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)					TCTTCACGTGCTGTGGGGAGG	0.602																																																	0								ENSG00000071889						146	84	105					X																	153735238		2203	4300	6503	FAM3A	SO:0001630	splice_region_variant	0			-	HGNC	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.598-1G>A	X.37:g.153735238C>T		Somatic	0	62	0		0.392861389151973				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Splice_Site	SNP							-	e9-1	ENST00000447601.2	37	c.598-1	CCDS35453.1	X	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765213	0.49574	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8342	0.85952	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM3A	153388432	1.000000	0.71417	0.971000	0.41717	0.370000	0.29829	7.666000	0.83877	2.235000	0.73313	0.529000	0.55759	.	-	-		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3A	protein_coding	OTTHUMT00000037362.2	C		-	Intron	153735238	-1	no_errors	ENST00000359889	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	153735238	C	T	153735238	5	4	242	1	0	0	0	0	0	0	1	0	5558	811	28	2	99	2	FAM3A	23	153735238	Splice_Site	SNP	C	TCGA-Z4-A8JB-01A-23D-A37C-09	99525936	153735238	1535322	44	19579											
GJA4	2701	genome.wustl.edu	37	chr1	35259912	35259912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacggtgctcttcatcttccGcatcctcatcctgggcctgg	10	15	4	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr1:35259912G>T	ENST00000342280.4	+	2	186	c.98G>T	c.(97-99)cGc>cTc	p.R33L		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	33					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)				TTCATCTTCCGCATCCTCATC	0.602																																																	0								ENSG00000187513						152	129	137					1																	35259912		2203	4300	6503	GJA4	SO:0001583	missense	0			-	HGNC	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.98G>T	1.37:g.35259912G>T	ENSP00000343676:p.Arg33Leu	Somatic	0	25	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP							pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37	p.R33L	ENST00000342280.4	37	c.98	CCDS30669.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968536	0.92855	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.99683	-6.39;-6.39	5.48	5.48	0.80851	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96631	0.9467	10	0.87932	D	0	.	19.3486	0.94374	0.0:0.0:1.0:0.0	.	33;33	Q5JW71;P35212	.;CXA4_HUMAN	L	33	ENSP00000343676:R33L;ENSP00000409186:R33L	ENSP00000343676:R33L	R	+	2	0	GJA4	35032499	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.807000	0.99171	2.546000	0.85860	0.655000	0.94253	CGC	-	pfam_Connexin_N,prints_Connexin		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJA4	protein_coding	OTTHUMT00000011556.1	G	NM_002060	-		35259912	1	no_errors	ENST00000342280	ensembl	human	known	74_37	missense	SNP	1.000	T	T	35259912	G	T	35259912	3	4	243	1	0	0	0	0	1	0	0	0	6405	1087	38	3	100	3	GJA4	1	35259912	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		35259912	213990709	1	19580											
VIT	5212	genome.wustl.edu	37	chr2	37036041	37036041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcttcaagaagtccaagCccaacaagaggaagttaatg	9	9	2	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:37036041C>T	ENST00000389975.3	+	14	2073	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	VIT_ENST00000379242.3_Missense_Mutation_p.P606S|VIT_ENST00000401530.1_Missense_Mutation_p.P570S|VIT_ENST00000404084.1_Missense_Mutation_p.P543S|VIT_ENST00000379241.3_Missense_Mutation_p.P569S|VIT_ENST00000497382.1_Missense_Mutation_p.P260S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	591	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAAGTCCAAGCCCAACAAGAG	0.587																																																	0								ENSG00000205221						71	71	71					2																	37036041		2203	4300	6503	VIT	SO:0001583	missense	0			-	HGNC	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1771C>T	2.37:g.37036041C>T	ENSP00000374625:p.Pro591Ser	Somatic	0	22	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP							pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.P606S	ENST00000389975.3	37	c.1816	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831505	0.71258	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.51	4.64	0.57946	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	L	0.42581	1.335	0.80722	D	1	D;D;D;D	0.67145	0.991;0.989;0.991;0.996	D;P;D;P	0.65987	0.94;0.801;0.94;0.901	T	0.82892	-0.0232	10	0.49607	T	0.09	-15.3472	14.1826	0.65583	0.0:0.9285:0.0:0.0715	.	570;569;591;606	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	S	606;591;260;543;569;570	ENSP00000368544:P606S;ENSP00000374625:P591S;ENSP00000417874:P260S;ENSP00000384154:P543S;ENSP00000368543:P569S;ENSP00000385658:P570S	ENSP00000368543:P569S	P	+	1	0	VIT	36889545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.159000	0.50731	1.329000	0.45376	0.650000	0.86243	CCC	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	protein_coding		C		-		37036041	1	no_errors	ENST00000379242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	37036041	C	T	37036041	3	4	243	1	0	0	0	0	1	0	0	0	17178	739	26	2	1995	2	VIT	2	37036041	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		37036041	206163332	2	19581											
DNAH6	1768	genome.wustl.edu	37	chr2	84745169	84745169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcctataaaactagaGcctttggtaagttcaaaaac	7	9	1	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:84745169G>T	ENST00000237449.6	+	1	227	c.219G>T	c.(217-219)gaG>gaT	p.E73D	DNAH6_ENST00000468661.1_3'UTR|DNAH6_ENST00000398278.2_Missense_Mutation_p.E73D|DNAH6_ENST00000389394.3_Missense_Mutation_p.E73D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	73	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAAAACTAGAGCCTTTGGTAA	0.398																																																	0								ENSG00000115423						17	16	16					2																	84745169		690	1587	2277	DNAH6	SO:0001583	missense	0			-	HGNC	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.219G>T	2.37:g.84745169G>T	ENSP00000237449:p.Glu73Asp	Somatic	0	29	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E73D	ENST00000237449.6	37	c.219	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821414	0.71028	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.29917	1.55;1.69;1.55	5.71	2.57	0.30868	.	.	.	.	.	T	0.32912	0.0845	N	0.14661	0.345	0.25702	N	0.985574	D	0.58970	0.984	D	0.68192	0.956	T	0.10086	-1.0645	9	0.45353	T	0.12	.	7.8342	0.29360	0.3252:0.0:0.6748:0.0	.	73	Q9C0G6	DYH6_HUMAN	D	73	ENSP00000374045:E73D;ENSP00000381326:E73D;ENSP00000237449:E73D	ENSP00000237449:E73D	E	+	3	2	DNAH6	84598680	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.523000	0.22925	0.782000	0.33613	0.591000	0.81541	GAG	-	NULL		0.398	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	G	NM_001370	-		84745169	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	SNP	1.000	T	T	84745169	G	T	84745169	3	4	243	1	0	0	0	0	1	0	0	0	4607	962	34	3	221	3	DNAH6	2	84745169	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	47709128	84745169	158454204	3	19582											
LY75	4065	genome.wustl.edu	37	chr2	160717368	160717368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgatgtcataatcctgCtgaaactcatttggcatgat	7	9	3	3			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:160717368C>T	ENST00000263636.4	-	15	2259	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	LY75-CD302_ENST00000504764.1_Silent_p.Q744Q|LY75-CD302_ENST00000505052.1_Silent_p.Q744Q|LY75_ENST00000554112.1_Silent_p.Q744Q|LY75_ENST00000553424.1_Silent_p.Q744Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	744	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATAATCCTGCTGAAACTCAT	0.348																																																	0								ENSG00000054219						112	107	109					2																	160717368		2203	4300	6503	LY75	SO:0001819	synonymous_variant	0			-	HGNC	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2232G>A	2.37:g.160717368C>T		Somatic	0	32	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP							pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Q744	ENST00000263636.4	37	c.2232	CCDS2211.1	2																																																																																			-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.348	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	protein_coding	OTTHUMT00000255035.1	C		-		160717368	-1	no_errors	ENST00000554112	ensembl	human	known	74_37	silent	SNP	1.000	T	T	160717368	C	T	160717368	2	4	243	1	0	0	0	0	0	0	0	1	9101	796	28	2		2	LY75	2	160717368	Silent	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	75972199	160717368	82482005	4	19583											
TTN	7273	genome.wustl.edu	37	chr2	179417021	179417021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattatcaagaataacagtGtattttcctccatgctcctt	5	10	1	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr2:179417021G>A	ENST00000591111.1	-	285	85907	c.85683C>T	c.(85681-85683)taC>taT	p.Y28561Y	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.Y21329Y|TTN_ENST00000589042.1_Silent_p.Y30202Y|TTN_ENST00000342992.6_Silent_p.Y27634Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.Y21262Y|TTN_ENST00000460472.2_Silent_p.Y21137Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28561	Ig-like 132.				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)			GAATAACAGTGTATTTTCCTC	0.403																																																	0								ENSG00000155657						106	102	104					2																	179417021		1942	4130	6072	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.85683C>T	2.37:g.179417021G>A		Somatic	0	36	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	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							pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y27634	ENST00000591111.1	37	c.82902		2																																																																																			-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179417021	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	1.000	A	A	179417021	G	A	179417021	2	1	243	1	0	0	0	0	0	0	0	1	16742	1372	48	2		2	TTN	2	179417021	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	18699653	179417021	63782352	5	19584											
SCAP	22937	genome.wustl.edu	37	chr3	47462189	47462189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagctgccgctcgtagCgcgttggctgtcccactggc	13	16	0	0	rs368653657		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:47462189C>T	ENST00000265565.5	-	12	1830	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	SCAP_ENST00000545718.1_Missense_Mutation_p.R81H|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.R218H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	473					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGCTCGTAGCGCGTTGGCTG	0.652											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)												0								ENSG00000114650	C	HIS/ARG	0,4406		0,0,2203	51	53	52		1418	5	0.5	3		52	1,8595	1.2+/-3.3	0,1,4297	no	missense	SCAP	NM_012235.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	473/1280	47462189	1,13001	2203	4298	6501	SCAP	SO:0001583	missense	0			-	HGNC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1418G>A	3.37:g.47462189C>T	ENSP00000265565:p.Arg473His	Somatic	0	80	0	947	0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	84	30.00	Q8N2E0|Q8WUA1	Missense_Mutation	SNP							pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R473H	ENST00000265565.5	37	c.1418	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042508	0.75732	0.0	1.16E-4	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.81163	-1.46;-1.41;0.74	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	L	0.50333	1.59	0.53005	D	0.999961	D;P	0.89917	1.0;0.827	D;B	0.83275	0.996;0.176	D	0.86385	0.1732	10	0.44086	T	0.13	-27.3254	18.138	0.89627	0.0:1.0:0.0:0.0	.	218;473	F8W921;Q12770	.;SCAP_HUMAN	H	473;100;473;218;81;166	ENSP00000265565:R473H;ENSP00000416847:R218H;ENSP00000438956:R81H	ENSP00000265565:R473H	R	-	2	0	SCAP	47437193	0.998000	0.40836	0.478000	0.27316	0.057000	0.15508	5.226000	0.65299	2.629000	0.89072	0.462000	0.41574	CGC	-	NULL		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	protein_coding	OTTHUMT00000246872.2	C	NM_012235	-		47462189	-1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	SNP	0.998	T	T	47462189	C	T	47462189	3	4	243	1	0	0	0	0	1	0	0	0	13885	768	27	1	2469	1	SCAP	3	47462189	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		47462189	150560241	6	19585											
BSN	8927	genome.wustl.edu	37	chr3	49698840	49698840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccagcagtgagcagcGgctatgagcagggcaaggtc	17	10	0	2	rs368455009		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:49698840G>A	ENST00000296452.4	+	6	9676	c.9562G>A	c.(9562-9564)Ggc>Agc	p.G3188S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3188					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)		AGTGAGCAGCGGCTATGAGCA	0.627																																																	0								ENSG00000164061	G	SER/GLY	0,4406		0,0,2203	67	62	63		9562	1.2	1	3		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3188/3927	49698840	1,13005	2203	4300	6503	BSN	SO:0001583	missense	0			-	HGNC	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.9562G>A	3.37:g.49698840G>A	ENSP00000296452:p.Gly3188Ser	Somatic	0	29	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	O43161|Q7LGH3	Missense_Mutation	SNP							pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.G3188S	ENST00000296452.4	37	c.9562	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	2.376	-0.343305	0.05243	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.15487	2.42	5.0	1.17	0.20885	.	0.380726	0.29059	N	0.013279	T	0.03608	0.0103	N	0.00707	-1.245	0.20638	N	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.44772	-0.9306	10	0.02654	T	1	-3.0877	9.287	0.37764	0.706:0.0:0.294:0.0	.	3188	Q9UPA5	BSN_HUMAN	S	3188	ENSP00000296452:G3188S	ENSP00000296452:G3188S	G	+	1	0	BSN	49673844	0.994000	0.37717	0.986000	0.45419	0.126000	0.20510	0.532000	0.23067	-0.032000	0.13758	-2.295000	0.00263	GGC	-	NULL		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	G	NM_003458	-		49698840	1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	SNP	1.000	A	A	49698840	G	A	49698840	3	1	243	1	0	0	0	0	1	0	0	0	1532	1116	39	1	9584	1	BSN	3	49698840	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	2236651	49698840	148323590	7	19586											
FOXP1	27086	genome.wustl.edu	37	chr3	71096156	71096156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtcagaaggccttggcGctgcaaagacaggaggtgct	14	8	1	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:71096156G>A	ENST00000318789.4	-	10	1126	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	FOXP1_ENST00000491238.1_Missense_Mutation_p.R203C|FOXP1_ENST00000498215.1_Missense_Mutation_p.R201C|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201C|FOXP1_ENST00000493089.1_Missense_Mutation_p.R201C|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125C|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	201	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGCCTTGGCGCTGCAAAGAC	0.522			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0								ENSG00000114861						143	143	143					3																	71096156		2203	4300	6503	FOXP1	SO:0001583	missense	0			-	HGNC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.601C>T	3.37:g.71096156G>A	ENSP00000318902:p.Arg201Cys	Somatic	0	43	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP							pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.R201C	ENST00000318789.4	37	c.601	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852111	0.91355	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.44881	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;0.91	6.03	6.03	0.97812	.	0.236203	0.49916	D	0.000132	T	0.66973	0.2844	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.988;0.973;0.973	T	0.66685	-0.5861	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	200;201;125;201	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	C	201;101;201;201;97;203;201;201;125;201;101;101	ENSP00000318902:R201C;ENSP00000419393:R201C;ENSP00000418225:R97C;ENSP00000420736:R203C;ENSP00000418524:R201C;ENSP00000418102:R201C;ENSP00000417857:R125C;ENSP00000418883:R201C;ENSP00000417941:R101C;ENSP00000418784:R101C	ENSP00000318902:R201C	R	-	1	0	FOXP1	71178846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.340000	0.65958	2.854000	0.98071	0.655000	0.94253	CGC	-	NULL		0.522	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	protein_coding	OTTHUMT00000352250.1	G	NM_032682	-		71096156	-1	no_errors	ENST00000318789	ensembl	human	known	74_37	missense	SNP	1.000	A	A	71096156	G	A	71096156	3	1	243	1	0	0	0	0	1	0	0	0	6028	1087	38	1	1480	1	FOXP1	3	71096156	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	21397316	71096156	126926274	8	19587											
OTOL1	131149	genome.wustl.edu	37	chr3	161221320	161221320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagttggctagagtgcccCggtcggctttcagcgctggt	16	10	1	2	rs200878802	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:161221320C>T	ENST00000327928.4	+	4	1024	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	342	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TAGAGTGCCCCGGTCGGCTTT	0.527																																																	0								ENSG00000182447						38	37	37					3																	161221320		1870	4100	5970	OTOL1	SO:0001583	missense	0			-	HGNC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 15"		"otolin 1 homolog (zebrafish)"			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1024C>T	3.37:g.161221320C>T	ENSP00000330808:p.Arg342Trp	Somatic	0	50	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	56	26.32		Missense_Mutation	SNP							pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R342W	ENST00000327928.4	37	c.1024	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	C	7.249	0.602848	0.13939	.	.	ENSG00000182447	ENST00000327928	D	0.86694	-2.16	5.23	3.22	0.36961	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.298148	0.35407	N	0.003223	D	0.92519	0.7624	M	0.88906	2.99	0.09310	N	1	D	0.89917	1.0	P	0.60886	0.88	D	0.85771	0.1355	10	0.66056	D	0.02	.	10.9133	0.47120	0.5687:0.4313:0.0:0.0	.	342	A6NHN0	OTOL1_HUMAN	W	342	ENSP00000330808:R342W	ENSP00000330808:R342W	R	+	1	2	OTOL1	162704014	0.031000	0.19500	0.001000	0.08648	0.001000	0.01503	1.445000	0.35079	1.172000	0.42781	-0.321000	0.08615	CGG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.527	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	protein_coding	OTTHUMT00000353184.1	C	NM_001080440	-		161221320	1	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	SNP	0.013	T	T	161221320	C	T	161221320	3	4	243	1	0	0	0	0	1	0	0	0	11306	643	23	1	1038	1	OTOL1	3	161221320	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	90125164	161221320	36801110	9	19588											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952146	178952147	+	Frame_Shift_Ins	INS	-	-	A													caattaaacagcatgcattgINSaactgaaaagataactgaga							TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:178952146_178952147insA	ENST00000263967.3	+	21	3358_3359	c.3201_3202insA	c.(3202-3204)aacfs	p.N1068fs	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1068	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCATGCATTGAACTGAAAAGA	0.396		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0								ENSG00000121879																																			PIK3CA	SO:0001589	frameshift_variant	0				HGNC		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3203dupA	3.37:g.178952148_178952148dupA	ENSP00000263967:p.Asn1068fs	Somatic	0	15	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	14	36.36	Q14CW1|Q99762	Frame_Shift_Ins	INS							pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N1067fs	ENST00000263967.3	37	c.3201_3202	CCDS43171.1	3																																																																																			-	pfscan_PI3/4_kinase_cat_dom		0.396	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	protein_coding	OTTHUMT00000348409.2	-				178952147	1	no_errors	ENST00000263967	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A	A	178952147	-	A	178952146	7	5	243	1	0	1	1	0	0	0	0	0	11915	1281	45	0	3279	0	PIK3CA	3	178952146	Frame_Shift_Ins	INS	-	TCGA-Z4-A9VC-01A-11D-A37C-09	17730826	178952146	19070284	10	19589											
EIF4A2	1974	genome.wustl.edu	37	chr3	186506919	186506919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttcttacacagaattgGcagagggggtcgatttggga	13	6	1	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr3:186506919G>A	ENST00000323963.5	+	11	1149	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.G267D|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G363D|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	362	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CACAGAATTGGCAGAGGGGGT	0.393			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0								ENSG00000156976						123	131	128					3																	186506919		2203	4300	6503	EIF4A2	SO:0001583	missense	0			-	HGNC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1085G>A	3.37:g.186506919G>A	ENSP00000326381:p.Gly362Asp	Somatic	0	29	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP							pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G363D	ENST00000323963.5	37	c.1088	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618811	0.66787	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.19669	2.13;2.13;2.13	5.87	5.87	0.94306	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	H	0.99156	4.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.995	T	0.81289	-0.1000	10	0.87932	D	0	-10.0703	18.0718	0.89410	0.0:0.0:1.0:0.0	.	267;363;362	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	D	362;363;267	ENSP00000326381:G362D;ENSP00000398370:G363D;ENSP00000348925:G267D	ENSP00000326381:G362D	G	+	2	0	EIF4A2	187989613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.276000	0.95745	2.941000	0.99782	0.655000	0.94253	GGC	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.393	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	protein_coding	OTTHUMT00000344609.1	G	NM_001967	-		186506919	1	no_errors	ENST00000440191	ensembl	human	known	74_37	missense	SNP	1.000	A	A	186506919	G	A	186506919	3	1	243	1	0	0	0	0	1	0	0	0	5027	1203	42	2	1127	2	EIF4A2	3	186506919	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	7554773	186506919	11515511	11	19590											
DNAH5	1767	genome.wustl.edu	37	chr5	13811901	13811901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagctgacgaagaatttctGcttcttgaggtgagcgtttc	11	8	2	4			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr5:13811901G>T	ENST00000265104.4	-	44	7366	c.7262C>A	c.(7261-7263)gCa>gAa	p.A2421E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2421	AAA 2. {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)					AAGAATTTCTGCTTCTTGAGG	0.433									Kartagener syndrome																																								0								ENSG00000039139						75	74	74					5																	13811901		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.7262C>A	5.37:g.13811901G>T	ENSP00000265104:p.Ala2421Glu	Somatic	0	26	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2421E	ENST00000265104.4	37	c.7262	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032141	0.54790	.	.	ENSG00000039139	ENST00000265104	T	0.15372	2.43	5.78	5.78	0.91487	.	0.103318	0.64402	D	0.000003	T	0.32585	0.0834	M	0.86953	2.85	0.58432	D	0.999996	B	0.25007	0.116	B	0.28553	0.091	T	0.11941	-1.0567	10	0.38643	T	0.18	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	2421	Q8TE73	DYH5_HUMAN	E	2421	ENSP00000265104:A2421E	ENSP00000265104:A2421E	A	-	2	0	DNAH5	13864901	1.000000	0.71417	0.963000	0.40424	0.918000	0.54935	5.195000	0.65131	2.729000	0.93468	0.650000	0.86243	GCA	-	NULL		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13811901	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	0.996	T	T	13811901	G	T	13811901	3	4	243	1	0	0	0	0	1	0	0	0	4606	1319	46	3	6756	3	DNAH5	5	13811901	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		13811901	167103359	12	19591											
TXNDC5	81567	genome.wustl.edu	37	chr6	7884718	7884718	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagagtcttacaatgaccAcacctaagacgagaaaaatg	8	10	1	4			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:7884718A>G	ENST00000379757.4	-	9	1087	c.1050T>C	c.(1048-1050)tgT>tgC	p.C350C	TXNDC5_ENST00000539054.1_Silent_p.C278C|TXNDC5_ENST00000473453.1_Silent_p.C242C|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	350	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TACAATGACCACACCTAAGAC	0.498																																					Ovarian(119;1430 1625 3928 26125 34589)												0								ENSG00000239264						67	62	64					6																	7884718		2203	4300	6503	TXNDC5	SO:0001819	synonymous_variant	0			-	HGNC	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1050T>C	6.37:g.7884718A>G		Somatic	0	32	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP							pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.C350	ENST00000379757.4	37	c.1050	CCDS4505.1	6																																																																																			-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin		0.498	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	protein_coding	OTTHUMT00000039792.1	A	NM_030810	-		7884718	-1	no_errors	ENST00000379757	ensembl	human	known	74_37	silent	SNP	0.986	G	G	7884718	A	G	7884718	2	3	243	1	0	0	0	0	0	0	0	1	16806	157	6	5		5	TXNDC5	6	7884718	Silent	SNP	A	TCGA-Z4-A9VC-01A-11D-A37C-09		7884718	163230349	13	19592											
TNXB	7148	genome.wustl.edu	37	chr6	32029299	32029299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctcctcgcccccaacaCgcaccacctggggccgcccg	9	23	1	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:32029299C>T	ENST00000375244.3	-	21	7568	c.7367G>A	c.(7366-7368)cGt>cAt	p.R2456H	TNXB_ENST00000375247.2_Missense_Mutation_p.R2456H			P22105	TENX_HUMAN	tenascin XB	2516	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCACCTG	0.692																																																	0								ENSG00000168477						60	71	67					6																	32029299		1238	2518	3756	TNXB	SO:0001583	missense	0			-	HGNC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7367G>A	6.37:g.32029299C>T	ENSP00000364393:p.Arg2456His	Somatic	0	92	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	62	31.11	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP							pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R2456H	ENST00000375244.3	37	c.7367		6	.	.	.	.	.	.	.	.	.	.	C	7.215	0.596132	0.13875	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	4.28	2.51	0.30379	.	0.376474	0.22068	N	0.065062	T	0.25717	0.0626	M	0.68952	2.095	0.25125	N	0.990614	B	0.21381	0.055	B	0.23018	0.043	T	0.24440	-1.0160	10	0.42905	T	0.14	.	4.5506	0.12110	0.0:0.6178:0.1821:0.2001	.	2456	P22105-3	.	H	2456	ENSP00000364393:R2456H;ENSP00000364396:R2456H	ENSP00000364393:R2456H	R	-	2	0	TNXB	32137277	0.001000	0.12720	0.856000	0.33681	0.006000	0.05464	-0.341000	0.07811	0.451000	0.26802	-0.948000	0.02665	CGT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.692	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	protein_coding	OTTHUMT00000268927.2	C	NM_019105	-		32029299	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	SNP	0.935	T	T	32029299	C	T	32029299	3	4	243	1	0	0	0	0	1	0	0	0	16353	536	19	1	7442	1	TNXB	6	32029299	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	24144581	32029299	139085768	14	19593											
CUL9	23113	genome.wustl.edu	37	chr6	43154707	43154707	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcataccaggttttctggCagtcgacaggccgcacttac	9	14	2	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:43154707C>T	ENST00000252050.4	+	5	1345	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	CUL9_ENST00000372647.2_Nonsense_Mutation_p.Q421*|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	421					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						GGTTTTCTGGCAGTCGACAGG	0.562																																																	0								ENSG00000112659						76	74	75					6																	43154707		2203	4300	6503	CUL9	SO:0001587	stop_gained	0			-	HGNC	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.1261C>T	6.37:g.43154707C>T	ENSP00000252050:p.Gln421*	Somatic	0	35	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Nonsense_Mutation	SNP							pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.Q421*	ENST00000252050.4	37	c.1261	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.532927	0.97641	.	.	ENSG00000112659	ENST00000252050;ENST00000372647	.	.	.	5.11	5.11	0.69529	.	0.398769	0.26750	N	0.022698	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-21.8877	12.8918	0.58076	0.2856:0.7144:0.0:0.0	.	.	.	.	X	421	.	ENSP00000252050:Q421X	Q	+	1	0	CUL9	43262685	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.988000	0.29616	2.380000	0.81148	0.467000	0.42956	CAG	-	pfam_CPH_domain		0.562	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	C	NM_015089	-		43154707	1	no_errors	ENST00000252050	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	43154707	C	T	43154707	4	4	243	1	0	0	0	0	0	1	0	0	4063	711	25	2	1275	2	CUL9	6	43154707	Nonsense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	11125408	43154707	127960360	15	19594											
DOPEY1	23033	genome.wustl.edu	37	chr6	83839162	83839162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcctagagtgctcaaGtttcccagtttacattgctg	8	11	2	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr6:83839162G>T	ENST00000349129.2	+	16	2536	c.2276G>T	c.(2275-2277)aGt>aTt	p.S759I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S750I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S740I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	759					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAGTGCTCAAGTTTCCCAGTT	0.388																																																	0								ENSG00000083097						67	66	67					6																	83839162		2203	4300	6503	DOPEY1	SO:0001583	missense	0			-	HGNC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2276G>T	6.37:g.83839162G>T	ENSP00000195654:p.Ser759Ile	Somatic	0	32	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP							pfam_Dopey_N,superfamily_ARM-type_fold	p.S759I	ENST00000349129.2	37	c.2276	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713523	0.89112	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26660	1.72;1.73	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.993;0.993	T	0.35871	-0.9771	10	0.72032	D	0.01	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	650;750;759	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	759;740;740	ENSP00000195654:S759I;ENSP00000237163:S740I	ENSP00000237163:S740I	S	+	2	0	DOPEY1	83895881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.230000	0.95299	2.673000	0.90976	0.650000	0.86243	AGT	-	superfamily_ARM-type_fold		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	G	NM_015018	-		83839162	1	no_errors	ENST00000349129	ensembl	human	known	74_37	missense	SNP	1.000	T	T	83839162	G	T	83839162	3	4	243	1	0	0	0	0	1	0	0	0	4709	1029	36	3	2330	3	DOPEY1	6	83839162	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	40684455	83839162	87275905	16	19595											
DDC	1644	genome.wustl.edu	37	chr7	50531032	50531032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagaacagatggcaaagCgcaggacaaacttgtccctg	12	10	0	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr7:50531032C>T	ENST00000444124.2	-	14	1540	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	DDC_ENST00000431062.1_Missense_Mutation_p.R354H|DDC_ENST00000357936.5_Missense_Mutation_p.R447H|DDC_ENST00000426377.1_Missense_Mutation_p.R369H	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	447					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.R447H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GATGGCAAAGCGCAGGACAAA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)	GRCh37	CM077527	DDC	M		ENSG00000132437						145	128	134					7																	50531032		2203	4300	6503	DDC	SO:0001583	missense	0			-	HGNC		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1340G>A	7.37:g.50531032C>T	ENSP00000403644:p.Arg447His	Somatic	0	38	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	37.50	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP							pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R447H	ENST00000444124.2	37	c.1340	CCDS5511.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.28|17.28	3.348837|3.348837	0.61183|0.61183	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	.|T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33	5.44|5.44	4.57|4.57	0.56435|0.56435	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86990|0.86990	0.6066|0.6066	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.90813|0.90813	0.4703|0.4703	5|10	.|0.87932	.|D	.|0	-18.0598|-18.0598	14.1535|14.1535	0.65403|0.65403	0.0:0.9277:0.0:0.0723|0.0:0.9277:0.0:0.0723	.|.	.|447;447	.|Q53Y41;P20711	.|.;DDC_HUMAN	T|H	328|447;354;369;447	.|ENSP00000350616:R447H;ENSP00000399184:R354H;ENSP00000395069:R369H;ENSP00000403644:R447H	.|ENSP00000350616:R447H	A|R	-|-	1|2	0|0	DDC|DDC	50498526|50498526	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.167000|0.167000	0.22549|0.22549	7.368000|7.368000	0.79567|0.79567	1.293000|1.293000	0.44690|0.44690	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC	-	superfamily_PyrdxlP-dep_Trfase		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	protein_coding	OTTHUMT00000342593.1	C		-		50531032	-1	no_errors	ENST00000357936	ensembl	human	known	74_37	missense	SNP	0.998	T	T	50531032	C	T	50531032	3	4	243	1	0	0	0	0	1	0	0	0	4327	768	27	1	106	1	DDC	7	50531032	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		50531032	108607631	17	19596											
CCDC146	57639	genome.wustl.edu	37	chr7	76866305	76866305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaaccagaatggcagcGttaaaagccaagtatacctt	9	10	0	1	rs535901399	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr7:76866305G>A	ENST00000285871.4	+	3	325	c.198G>A	c.(196-198)gcG>gcA	p.A66A	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	66										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GAATGGCAGCGTTAAAAGCCA	0.408													G|||	2	0.000399361	0	0	5008	,	,		22444	0		0	False		,,,				2504	0.002																0								ENSG00000135205						197	147	164					7																	76866305		2203	4300	6503	CCDC146	SO:0001819	synonymous_variant	0			-	HGNC	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.198G>A	7.37:g.76866305G>A		Somatic	0	33	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	19	56.82	A8K8X6|Q9P223	Silent	SNP							NULL	p.A66	ENST00000285871.4	37	c.198	CCDS34671.1	7																																																																																			-	NULL		0.408	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	protein_coding	OTTHUMT00000341449.1	G	NM_020879	-		76866305	1	no_errors	ENST00000285871	ensembl	human	known	74_37	silent	SNP	1.000	A	A	76866305	G	A	76866305	2	1	243	1	0	0	0	0	0	0	0	1	2782	1132	40	1		1	CCDC146	7	76866305	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	26335273	76866305	82272358	18	19597											
RAD54B	25788	genome.wustl.edu	37	chr8	95390498	95390498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatgtgaacaaatttttaaGttcttctactgaaaactgaa	5	5	2	3			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr8:95390498G>T	ENST00000336148.5	-	14	2549	c.2425C>A	c.(2425-2427)Ctt>Att	p.L809I		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	809	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAATTTTTAAGTTCTTCTACT	0.373								Direct reversal of damage;Homologous recombination																																									0								ENSG00000197275						72	66	68					8																	95390498		2203	4300	6503	RAD54B	SO:0001583	missense	0			-	HGNC	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2425C>A	8.37:g.95390498G>T	ENSP00000336606:p.Leu809Ile	Somatic	0	34	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	F6WBS8	Missense_Mutation	SNP							pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L809I	ENST00000336148.5	37	c.2425	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585937	0.86748	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.78481	-1.18	5.82	4.95	0.65309	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.86737	0.1952	10	0.62326	D	0.03	-8.4681	14.7521	0.69533	0.0689:0.0:0.9311:0.0	.	809	Q9Y620	RA54B_HUMAN	I	809;481	ENSP00000336606:L809I	ENSP00000336606:L809I	L	-	1	0	RAD54B	95459674	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.232000	0.95325	1.484000	0.48361	0.655000	0.94253	CTT	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	protein_coding	OTTHUMT00000257806.3	G	NM_012415	-		95390498	-1	no_errors	ENST00000336148	ensembl	human	known	74_37	missense	SNP	1.000	T	T	95390498	G	T	95390498	3	4	243	1	0	0	0	0	1	0	0	0	13000	1029	36	3	315	3	RAD54B	8	95390498	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		95390498	50973524	19	19598											
CSMD3	114788	genome.wustl.edu	37	chr8	113275914	113275914	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtaccattccctacacaGgtcaaaacagcagggaagga	10	11	1	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr8:113275914G>T	ENST00000297405.5	-	61	10060	c.9816C>A	c.(9814-9816)acC>acA	p.T3272T	CSMD3_ENST00000352409.3_Silent_p.T3202T|CSMD3_ENST00000343508.3_Silent_p.T3232T|CSMD3_ENST00000455883.2_Silent_p.T3103T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3272	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TCCCTACACAGGTCAAAACAG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						99	85	90					8																	113275914		2203	4300	6503	CSMD3	SO:0001819	synonymous_variant	0			-	HGNC	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.9816C>A	8.37:g.113275914G>T		Somatic	0	44	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	Q96PZ3	Silent	SNP							pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T3272	ENST00000297405.5	37	c.9816	CCDS6315.1	8																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113275914	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	SNP	1.000	T	T	113275914	G	T	113275914	2	4	243	1	0	0	0	0	0	0	0	1	3948	987	35	3		3	CSMD3	8	113275914	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	17885416	113275914	33088108	20	19599											
RFX3	5991	genome.wustl.edu	37	chr9	3257180	3257180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttgtcatcacactggCacacccaggaagcctgctcc	8	16	2	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr9:3257180C>T	ENST00000382004.3	-	15	1936	c.1625G>A	c.(1624-1626)tGc>tAc	p.C542Y	RFX3_ENST00000302303.1_Missense_Mutation_p.C542Y|RFX3_ENST00000358730.2_Missense_Mutation_p.C542Y	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	542					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)		ATCACACTGGCACACCCAGGA	0.478																																																	0								ENSG00000080298						117	100	106					9																	3257180		2203	4300	6503	RFX3	SO:0001583	missense	0			-	HGNC	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.1625G>A	9.37:g.3257180C>T	ENSP00000371434:p.Cys542Tyr	Somatic	0	13	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP							pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.C542Y	ENST00000382004.3	37	c.1625	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591731	0.86953	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986;ENST00000458034	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.62	5.62	0.85841	.	0.049265	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.921	T	0.73487	-0.3967	10	0.46703	T	0.11	-12.1721	19.6768	0.95939	0.0:1.0:0.0:0.0	.	542;542	P48380-2;P48380	.;RFX3_HUMAN	Y	542;542;542;7;21;115	ENSP00000371434:C542Y;ENSP00000351574:C542Y;ENSP00000303847:C542Y;ENSP00000415594:C7Y;ENSP00000400026:C115Y	ENSP00000303847:C542Y	C	-	2	0	RFX3	3247180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	TGC	-	NULL		0.478	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	protein_coding	OTTHUMT00000051545.1	C	NM_002919	-		3257180	-1	no_errors	ENST00000382004	ensembl	human	known	74_37	missense	SNP	1.000	T	T	3257180	C	T	3257180	3	4	243	1	0	0	0	0	1	0	0	0	13272	710	25	2	796	2	RFX3	9	3257180	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		3257180	137956251	21	19600											
VAV2	7410	genome.wustl.edu	37	chr9	136857268	136857268	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggttgtgcagcagctGgcacagaaggaccccgtcgc	16	11	0	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr9:136857268G>A	ENST00000371850.3	-	1	164	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Nonsense_Mutation_p.Q45*|VAV2_ENST00000406606.3_Nonsense_Mutation_p.Q45*	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	45	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGCAGCAGCTGGCACAGAAGG	0.701																																																	0								ENSG00000160293						21	21	21					9																	136857268		2194	4297	6491	VAV2	SO:0001587	stop_gained	0			-	HGNC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.133C>T	9.37:g.136857268G>A	ENSP00000360916:p.Gln45*	Somatic	0	29	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Nonsense_Mutation	SNP							pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.Q45*	ENST00000371850.3	37	c.133	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.524962	0.97637	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	.	.	.	3.55	2.63	0.31362	.	0.000000	0.45126	U	0.000389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	9.6364	0.39811	0.1082:0.0:0.8918:0.0	.	.	.	.	X	45	.	ENSP00000317258:Q45X	Q	-	1	0	VAV2	135847089	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.671000	0.68095	0.459000	0.27016	0.185000	0.17295	CAG	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.701	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	protein_coding	OTTHUMT00000054939.1	G		-		136857268	-1	no_errors	ENST00000371850	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	136857268	G	A	136857268	4	1	243	1	0	0	0	0	0	1	0	0	17139	1357	47	2	2623	2	VAV2	9	136857268	Nonsense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	133600088	136857268	4356163	22	19601											
FAM107B	83641	genome.wustl.edu	37	chr10	14709678	14709678	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaggcatttaggttcttctcGaaattcttcttcctaagcgc	8	10	4	0	rs111681891		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:14709678G>C	ENST00000181796.2	-	2	657	c.424C>G	c.(424-426)Cga>Gga	p.R142G		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	74					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423																																																	0								ENSG00000065809						124	113	117					10																	14709678		2203	4300	6503	FAM107B	SO:0001583	missense	0			-	HGNC	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.424C>G	10.37:g.14709678G>C	ENSP00000181796:p.Arg142Gly	Somatic	0	50	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	41	28.07	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP							pfam_DUF1151	p.R142G	ENST00000181796.2	37	c.424	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	G	2.651	-0.282021	0.05642	.	.	ENSG00000065809	ENST00000181796	T	0.55234	0.53	4.52	4.52	0.55395	.	0.873774	0.09578	N	0.783258	T	0.38401	0.1039	N	0.14661	0.345	0.58432	D	0.999997	B	0.20261	0.043	B	0.19946	0.027	T	0.08889	-1.0700	10	0.33940	T	0.23	.	12.9327	0.58296	0.0:0.0:1.0:0.0	.	142	Q9H098-2	.	G	142	ENSP00000181796:R142G	ENSP00000181796:R142G	R	-	1	2	FAM107B	14749684	0.221000	0.23642	0.429000	0.26710	0.190000	0.23558	4.235000	0.58666	2.518000	0.84900	0.555000	0.69702	CGA	-	NULL		0.423	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	protein_coding	OTTHUMT00000356966.1	G	NM_031453	-		14709678	-1	no_errors	ENST00000181796	ensembl	human	known	74_37	missense	SNP	0.237	C	C	14709678	G	C	14709678	3	2	243	1	0	0	0	0	1	0	0	0	5392	1066	37	4	512	4	FAM107B	10	14709678	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		14709678	120825069	23	19602											
PTEN	5728	genome.wustl.edu	37	chr10	89692794	89692794	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatatccttttgaagaccAtaacccaccacagctagaac	4	13	0	3	rs121909238		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:89692794A>C	ENST00000371953.3	+	5	1635	c.278A>C	c.(277-279)cAt>cCt	p.H93P		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	93	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in MCEPHAS). {ECO:0000269|PubMed:15805158}.|H -> Y (in CWS1).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGAAGACCATAACCCACCA	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	55	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(2)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM051214	PTEN	M	rs121909238	ENSG00000171862						111	102	105					10																	89692794		2203	4300	6503	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.278A>C	10.37:g.89692794A>C	ENSP00000361021:p.His93Pro	Somatic	0	56	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	40	33.33	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H93P	ENST00000371953.3	37	c.278	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351722	0.82132	.	.	ENSG00000171862	ENST00000371953	D	0.98889	-5.21	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98045	1.0384	9	.	.	.	-6.7727	14.8406	0.70220	1.0:0.0:0.0:0.0	.	93	P60484	PTEN_HUMAN	P	93	ENSP00000361021:H93P	.	H	+	2	0	PTEN	89682774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	CAT	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	A	NM_000314	-		89692794	1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	C	C	89692794	A	C	89692794	3	2	243	1	0	0	0	0	1	0	0	0	12743	217	8	5	296	5	PTEN	10	89692794	Missense_Mutation	SNP	A	TCGA-Z4-A9VC-01A-11D-A37C-09	74983116	89692794	45841953	24	19603			1	102		2	2	25	N	T_A	3.411152e-05
PTEN	5728	genome.wustl.edu	37	chr10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagctagaacttaTcaaacccttttgtgaagatc	5	13	1	3			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:89692818T>C	ENST00000371953.3	+	5	1659	c.302T>C	c.(301-303)aTc>aCc	p.I101T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	101	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.I101T(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.I101del(1)|p.I101N(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGAACTTATCAAACCCTTT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	60	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(8)|Unknown(5)|Deletion - In frame(1)	central_nervous_system(18)|prostate(17)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|large_intestine(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	GRCh37	CX983284	PTEN	X		ENSG00000171862						110	103	105					10																	89692818		2203	4298	6501	PTEN	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	-	HGNC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.302T>C	10.37:g.89692818T>C	ENSP00000361021:p.Ile101Thr	Somatic	0	55	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP							pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I101T	ENST00000371953.3	37	c.302	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412660	0.83340	.	.	ENSG00000171862	ENST00000371953	D	0.98762	-5.12	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99521	1.0958	9	.	.	.	-2.2759	14.8407	0.70220	0.0:0.0:0.0:1.0	.	101	P60484	PTEN_HUMAN	T	101	ENSP00000361021:I101T	.	I	+	2	0	PTEN	89682798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	ATC	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	T	NM_000314	-		89692818	1	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	SNP	1.000	C	C	89692818	T	C	89692818	3	2	243	1	0	0	0	0	1	0	0	0	12743	1435	50	5	320	5	PTEN	10	89692818	Missense_Mutation	SNP	T	TCGA-Z4-A9VC-01A-11D-A37C-09	24	89692818	45841929	25	19604			1	102		2	2	25	N	T_A	3.411152e-05
NRAP	4892	genome.wustl.edu	37	chr10	115423585	115423585	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgacctgatctatacagctGatcttctcggcaggataaac	8	11	3	3			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr10:115423585G>T	ENST00000359988.3	-	1	301	c.57C>A	c.(55-57)atC>atA	p.I19I	NRAP_ENST00000369360.3_Silent_p.I19I|NRAP_ENST00000360478.3_Silent_p.I19I|NRAP_ENST00000369358.4_Silent_p.I19I	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)		CTATACAGCTGATCTTCTCGG	0.433																																																	0								ENSG00000197893						114	105	108					10																	115423585		2203	4300	6503	NRAP	SO:0001819	synonymous_variant	0			-	HGNC		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.57C>A	10.37:g.115423585G>T		Somatic	0	27	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43		Silent	SNP							pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.I19	ENST00000359988.3	37	c.57	CCDS7579.1	10																																																																																			-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.433	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050425.2	G	NM_006175	-		115423585	-1	no_errors	ENST00000369358	ensembl	human	known	74_37	silent	SNP	1.000	T	T	115423585	G	T	115423585	2	4	243	1	0	0	0	0	0	0	0	1	10640	1280	45	3		3	NRAP	10	115423585	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	25730767	115423585	20111162	26	19605											
TMEM132D	121256	genome.wustl.edu	37	chr12	129566374	129566374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttggcgatcctgggcTcctccacctgcatgaagtca	11	14	1	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr12:129566374T>C	ENST00000422113.2	-	7	2179	c.1853A>G	c.(1852-1854)gAg>gGg	p.E618G	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E156G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	618					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATCCTGGGCTCCTCCACCTG	0.562																																																	0								ENSG00000151952						55	53	53					12																	129566374		2203	4300	6503	TMEM132D	SO:0001583	missense	0			-	HGNC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1853A>G	12.37:g.129566374T>C	ENSP00000408581:p.Glu618Gly	Somatic	0	85	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	68	26.88	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP							NULL	p.E618G	ENST00000422113.2	37	c.1853	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404895	0.83230	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15139	2.45;2.45	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.32763	0.0840	M	0.84326	2.69	0.49051	D	0.999747	P;P	0.52316	0.952;0.941	P;P	0.49085	0.6;0.578	T	0.28170	-1.0052	9	.	.	.	-32.7189	14.0186	0.64539	0.0:0.0:0.0:1.0	.	618;156	Q14C87;Q14C87-2	T132D_HUMAN;.	G	156;618	ENSP00000374092:E156G;ENSP00000408581:E618G	.	E	-	2	0	TMEM132D	128132327	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.980000	0.63812	1.706000	0.51276	0.459000	0.35465	GAG	-	NULL		0.562	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	T	NM_133448	-		129566374	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	SNP	1.000	C	C	129566374	T	C	129566374	3	2	243	1	0	0	0	0	1	0	0	0	16054	1551	54	5	1458	5	TMEM132D	12	129566374	Missense_Mutation	SNP	T	TCGA-Z4-A9VC-01A-11D-A37C-09		129566374	4285521	27	19606											
GOLGA3	2802	genome.wustl.edu	37	chr12	133351889	133351889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccaactcagacttgacGttctgtggaaaatgaagtca	8	9	4	3			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr12:133351889G>A	ENST00000450791.2	-	21	4164	c.3981C>T	c.(3979-3981)aaC>aaT	p.N1327N	GOLGA3_ENST00000456883.2_Silent_p.N1327N|GOLGA3_ENST00000204726.3_Silent_p.N1327N			Q08378	GOGA3_HUMAN	golgin A3	1327	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGACTTGACGTTCTGTGGAA	0.423																																																	0								ENSG00000090615						78	73	74					12																	133351889		2203	4300	6503	GOLGA3	SO:0001819	synonymous_variant	0			-	HGNC	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3981C>T	12.37:g.133351889G>A		Somatic	0	41	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP							superfamily_Prefoldin	p.N1327	ENST00000450791.2	37	c.3981	CCDS9281.1	12																																																																																			-	NULL		0.423	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	protein_coding	OTTHUMT00000397569.2	G	NM_005895	-		133351889	-1	no_errors	ENST00000204726	ensembl	human	known	74_37	silent	SNP	0.860	A	A	133351889	G	A	133351889	2	1	243	1	0	0	0	0	0	0	0	1	6556	1136	40	1		1	GOLGA3	12	133351889	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	3785515	133351889	500006	28	19607											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20224332	20224332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagacgaaacggatacttGggcatacattgctgcagaag	12	8	0	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr13:20224332G>T	ENST00000361479.5	+	5	1576	c.1508G>T	c.(1507-1509)tGg>tTg	p.W503L	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.W503L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	503					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACGGATACTTGGGCATACATT	0.403																																																	0								ENSG00000196199						146	121	129					13																	20224332		2203	4300	6503	MPHOSPH8	SO:0001583	missense	0			-	HGNC	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1508G>T	13.37:g.20224332G>T	ENSP00000355388:p.Trp503Leu	Somatic	0	56	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.W503L	ENST00000361479.5	37	c.1508	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242157	0.58995	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34859	1.35;1.34	5.66	5.66	0.87406	.	0.076157	0.56097	D	0.000028	T	0.55321	0.1913	L	0.59436	1.845	0.51233	D	0.999918	D;P;D	0.89917	1.0;0.956;0.999	D;P;D	0.87578	0.998;0.644;0.974	T	0.40646	-0.9552	10	0.08381	T	0.77	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	503;503;503	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	L	503	ENSP00000414663:W503L;ENSP00000355388:W503L	ENSP00000355388:W503L	W	+	2	0	MPHOSPH8	19122332	1.000000	0.71417	0.995000	0.50966	0.100000	0.18952	5.233000	0.65337	2.830000	0.97506	0.585000	0.79938	TGG	-	NULL		0.403	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	protein_coding	OTTHUMT00000044028.2	G	NM_017520	-		20224332	1	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	20224332	G	T	20224332	3	4	243	1	0	0	0	0	1	0	0	0	9729	1357	47	3	1526	3	MPHOSPH8	13	20224332	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		20224332	94945546	29	19608											
CKAP2	26586	genome.wustl.edu	37	chr13	53036665	53036665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatttactgaaaaagtaaAcaacacattttctgaatgcc	4	7	1	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr13:53036665A>G	ENST00000378037.5	+	5	1361	c.1271A>G	c.(1270-1272)aAc>aGc	p.N424S	CKAP2_ENST00000258607.5_Missense_Mutation_p.N423S|CKAP2_ENST00000378034.3_Missense_Mutation_p.N423S|CKAP2_ENST00000490903.1_Missense_Mutation_p.N375S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GAAAAAGTAAACAACACATTT	0.338																																																	0								ENSG00000136108						60	59	59					13																	53036665		2203	4300	6503	CKAP2	SO:0001583	missense	0			-	HGNC	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1271A>G	13.37:g.53036665A>G	ENSP00000367276:p.Asn424Ser	Somatic	0	26	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		Missense_Mutation	SNP							NULL	p.N424S	ENST00000378037.5	37	c.1271	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	18.70	3.680358	0.68042	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.76	5.76	0.90799	.	0.187251	0.48286	D	0.000200	T	0.51466	0.1676	M	0.76574	2.34	0.35636	D	0.810612	D;D;D;D	0.89917	0.998;0.998;1.0;0.999	D;D;D;D	0.83275	0.915;0.915;0.996;0.971	T	0.65207	-0.6224	10	0.72032	D	0.01	-7.4585	14.0245	0.64577	1.0:0.0:0.0:0.0	.	375;424;423;424	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	S	424;423;423;424;375	ENSP00000258607:N423S;ENSP00000367273:N423S;ENSP00000367276:N424S;ENSP00000417830:N375S	ENSP00000258607:N423S	N	+	2	0	CKAP2	51934666	1.000000	0.71417	0.972000	0.41901	0.897000	0.52465	4.012000	0.57131	2.187000	0.69744	0.533000	0.62120	AAC	-	NULL		0.338	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	protein_coding	OTTHUMT00000355010.2	A		-		53036665	1	no_errors	ENST00000378037	ensembl	human	known	74_37	missense	SNP	0.994	G	G	53036665	A	G	53036665	3	3	243	1	0	0	0	0	1	0	0	0	3444	43	2	5	1289	5	CKAP2	13	53036665	Missense_Mutation	SNP	A	TCGA-Z4-A9VC-01A-11D-A37C-09	32812333	53036665	62133213	30	19609											
SYNE2	23224	genome.wustl.edu	37	chr14	64467428	64467428	+	Frame_Shift_Del	DEL	T	T	-													aagagagcttcagatgactcTtaataccaggtaaaattctg							TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:64467428delT	ENST00000344113.4	+	28	3841	c.3629delT	c.(3628-3630)cttfs	p.L1210fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L1210fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L1210fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1210					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGATGACTCTTAATACCAGG	0.303																																																	0								ENSG00000054654						60	60	60					14																	64467428		1818	4065	5883	SYNE2	SO:0001589	frameshift_variant	0				HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3629delT	14.37:g.64467428delT	ENSP00000341781:p.Leu1210fs	Somatic	0	37	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL							pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N1211fs	ENST00000344113.4	37	c.3629	CCDS41963.1	14																																																																																			-	NULL		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	T	NM_182914			64467428	1	no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	DEL	0.777	-	-	64467428	T	-	64467428	7	5	243	1	0	1	0	1	0	0	0	0	15453	1609	56	0	3735	0	SYNE2	14	64467428	Frame_Shift_Del	DEL	T	TCGA-Z4-A9VC-01A-11D-A37C-09		64467428	42882112	31	19610											
SYNE2	23224	genome.wustl.edu	37	chr14	64492098	64492098	+	Frame_Shift_Del	DEL	G	G	-													ttatggttttgaattcatccGaaggcaaaatgccacttgag					rs551783338		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:64492098delG	ENST00000344113.4	+	41	6423	c.6211delG	c.(6211-6213)gaafs	p.E2071fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.E2071fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.E2071fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2071					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATTCATCCGAAGGCAAAAT	0.348																																																	0								ENSG00000054654						61	57	59					14																	64492098		1813	4079	5892	SYNE2	SO:0001589	frameshift_variant	0				HGNC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6211delG	14.37:g.64492098delG	ENSP00000341781:p.Glu2071fs	Somatic	0	38	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL							pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2071fs	ENST00000344113.4	37	c.6211	CCDS41963.1	14																																																																																			-	smart_Spectrin/alpha-actinin		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914			64492098	1	no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-	-	64492098	G	-	64492098	7	5	243	1	0	1	0	1	0	0	0	0	15453	1059	37	0	6369	0	SYNE2	14	64492098	Frame_Shift_Del	DEL	G	TCGA-Z4-A9VC-01A-11D-A37C-09	24670	64492098	42857442	32	19611											
HHIPL1	84439	genome.wustl.edu	37	chr14	100123367	100123369	+	In_Frame_Del	DEL	AAA	AAA	-													gaggtcaaagaaccagcctcAaaccacaacgggggccagct							TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	AAA	AAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:100123367_100123369delAAA	ENST00000330710.5	+	3	1031_1033	c.933_935delAAA	c.(931-936)tcaaac>tcc	p.N312del	HHIPL1_ENST00000357223.2_In_Frame_Del_p.N312del	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	312					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AACCAGCCTCAAACCACAACGGG	0.522																																																	0								ENSG00000182218																																			HHIPL1	SO:0001651	inframe_deletion	0				HGNC	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.933_935delAAA	14.37:g.100123367_100123369delAAA	ENSP00000330601:p.Asn312del	Somatic	0	80	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	A2RUF8|B2RN09|Q6UXX2	In_Frame_Del	DEL							pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.N312in_frame_del	ENST00000330710.5	37	c.933_935	CCDS45162.1	14																																																																																			-	superfamily_Quinoprot_gluc/sorb_DH		0.522	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	protein_coding	OTTHUMT00000413811.1	AAA	XM_041566			100123369	1	no_errors	ENST00000330710	ensembl	human	known	74_37	in_frame_del	DEL	0.130:0.998:1.000	-	-	100123369	AAA	-	100123367	7	5	243	1	0	1	0	1	0	0	0	0	7095	117	5	0	943	0	HHIPL1	14	100123367	In_Frame_Del	DEL	AAA	TCGA-Z4-A9VC-01A-11D-A37C-09	35631269	100123367	7226173	33	19612											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102483133	102483133	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagaatggtctccgtggCaggccaaggtgcctcagatt	15	10	2	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:102483133C>T	ENST00000360184.4	+	38	7809	c.7645C>T	c.(7645-7647)Cag>Tag	p.Q2549*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2549					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)			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						GTCTCCGTGGCAGGCCAAGGT	0.582																																																	0								ENSG00000197102						36	32	33					14																	102483133		2203	4298	6501	DYNC1H1	SO:0001587	stop_gained	0			-	HGNC	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.7645C>T	14.37:g.102483133C>T	ENSP00000348965:p.Gln2549*	Somatic	0	28	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q2549*	ENST00000360184.4	37	c.7645	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	50	16.481136	0.99864	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	.	.	.	X	2549	.	ENSP00000348965:Q2549X	Q	+	1	0	DYNC1H1	101552886	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.094000	0.76944	2.768000	0.95171	0.561000	0.74099	CAG	-	superfamily_P-loop_NTPase		0.582	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102483133	1	no_errors	ENST00000360184	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	102483133	C	T	102483133	4	4	243	1	0	0	0	0	0	1	0	0	4843	711	25	2	7795	2	DYNC1H1	14	102483133	Nonsense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	2359766	102483133	4866407	34	19613											
RCOR1	23186	genome.wustl.edu	37	chr14	103059661	103059661	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcccgacttcgacccCggtgagtagcggccccggcc	15	16	0	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr14:103059661C>T	ENST00000570597.1	+	2	351	c.351C>T	c.(349-351)ccC>ccT	p.P117P	RCOR1_ENST00000262241.6_Splice_Site_p.P120P			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	117	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTTCGACCCCGGTGAGTAgc	0.751																																																	0								ENSG00000089902						6	7	6					14																	103059661		2074	4086	6160	RCOR1	SO:0001630	splice_region_variant	0			-	HGNC	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.352+1C>T	14.37:g.103059661C>T		Somatic	0	31	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q15044|Q6P2I9|Q86VG5	Silent	SNP							pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1	p.P120	ENST00000570597.1	37	c.360		14																																																																																			-	pfam_ELM2_dom,pfscan_ELM2_dom		0.751	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	protein_coding		C	NM_015156	-	Silent	103059661	1	no_errors	ENST00000262241	ensembl	human	known	74_37	silent	SNP	0.983	T	T	103059661	C	T	103059661	5	4	243	1	0	0	0	0	0	0	1	0	13190	666	23	1	357	1	RCOR1	14	103059661	Splice_Site	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	576528	103059661	4289879	35	19614											
SHF	90525	genome.wustl.edu	37	chr15	45465795	45465795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtcctccaggctggGctcagggaggggcgaggctg	19	11	1	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:45465795G>A	ENST00000290894.8	-	5	1266	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	SHF_ENST00000561091.1_5'Flank|SHF_ENST00000458022.2_Intron|SHF_ENST00000560540.1_Intron|SHF_ENST00000560734.1_Intron|SHF_ENST00000318390.6_Intron|SHF_ENST00000560471.1_Missense_Mutation_p.P323S|RP11-519G16.2_ENST00000560034.1_RNA	NM_138356.2	NP_612365			Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCCAGGCTGGGCTCAGGGAGG	0.677																																																	0								ENSG00000138606						17	16	16					15																	45465795		2117	4097	6214	SHF	SO:0001583	missense	0			-	HGNC	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.772C>T	15.37:g.45465795G>A	ENSP00000290894:p.Pro258Ser	Somatic	0	52	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	45	29.69		Missense_Mutation	SNP							pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P258S	ENST00000290894.8	37	c.772	CCDS10120.2	15	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370655	0.42003	.	.	ENSG00000138606	ENST00000290894;ENST00000361989	T	0.29142	1.58	4.98	3.08	0.35506	.	0.193958	0.22657	U	0.057257	T	0.19565	0.0470	N	0.22421	0.69	0.80722	D	1	B;B	0.14438	0.0;0.01	B;B	0.12837	0.001;0.008	T	0.04281	-1.0963	10	0.31617	T	0.26	-2.4693	10.0052	0.41953	0.1705:0.0:0.8295:0.0	.	121;258	Q8N9I8;Q7M4L6	.;SHF_HUMAN	S	258	ENSP00000290894:P258S	ENSP00000290894:P258S	P	-	1	0	SHF	43253087	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	3.694000	0.54742	0.612000	0.30071	0.491000	0.48974	CCC	-	NULL		0.677	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHF	protein_coding	OTTHUMT00000254141.2	G	NM_138356	-		45465795	-1	no_errors	ENST00000290894	ensembl	human	known	74_37	missense	SNP	1.000	A	A	45465795	G	A	45465795	3	1	243	1	0	0	0	0	1	0	0	0	14285	1203	42	2	515	2	SHF	15	45465795	Missense_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		45465795	57065597	36	19615											
USP8	9101	genome.wustl.edu	37	chr15	50784950	50784950	+	Missense_Mutation	SNP	C	C	T													ggctttctgcttctcagattCggaacctcaatcctgttttt					rs78143971	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:50784950C>T	ENST00000396444.3	+	15	2625	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.R657W|USP8_ENST00000433963.1_Missense_Mutation_p.R763W|USP8_ENST00000307179.4_Missense_Mutation_p.R763W	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	763					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTCAGATTCGGAACCTCAA	0.403																																																	0								ENSG00000138592						133	120	125					15																	50784950		2196	4294	6490	USP8	SO:0001583	missense	0			-	HGNC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2287C>T	15.37:g.50784950C>T	ENSP00000379721:p.Arg763Trp	Somatic	0	37	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R763W	ENST00000396444.3	37	c.2287	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628030	0.87560	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.21031	2.03;2.03;2.03;2.07	5.22	5.22	0.72569	.	0.556073	0.19308	N	0.117479	T	0.32255	0.0823	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61477	0.889;0.889	T	0.02320	-1.1177	10	0.56958	D	0.05	-12.0933	15.5388	0.76024	0.1385:0.8615:0.0:0.0	.	657;763	B4DKA8;P40818	.;UBP8_HUMAN	W	763;763;763;657	ENSP00000379721:R763W;ENSP00000405537:R763W;ENSP00000302239:R763W;ENSP00000412682:R657W	ENSP00000302239:R763W	R	+	1	2	USP8	48572242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.593000	0.87608	0.650000	0.86243	CGG	-	NULL		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	C	NM_005154	rs78143971		50784950	1	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	SNP	1.000	T	T	50784950	C	T	50784950	3	4	243	1	0	0	0	0	1	0	0	0	17096	875	31	1	2341	1	USP8	15	50784950	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	5319155	50784950	51746442	37	19616	502	2									
USP8	9101	genome.wustl.edu	37	chr15	50784955	50784955	+	Missense_Mutation	SNP	C	C	A													tctgcttctcagattcggaaCctcaatcctgtttttggagg					rs74840283		TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr15:50784955C>A	ENST00000396444.3	+	15	2630	c.2292C>A	c.(2290-2292)aaC>aaA	p.N764K	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.N658K|USP8_ENST00000433963.1_Missense_Mutation_p.N764K|USP8_ENST00000307179.4_Missense_Mutation_p.N764K	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	764					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGATTCGGAACCTCAATCCTG	0.408																																																	0								ENSG00000138592						135	121	126					15																	50784955		2196	4294	6490	USP8	SO:0001583	missense	0			-	HGNC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2292C>A	15.37:g.50784955C>A	ENSP00000379721:p.Asn764Lys	Somatic	0	39	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP							pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.N764K	ENST00000396444.3	37	c.2292	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650128	0.67472	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18174	2.23;2.23;2.23;2.27	5.22	2.26	0.28386	.	0.395808	0.31859	N	0.006953	T	0.09069	0.0224	N	0.24115	0.695	0.48696	D	0.999694	B;B	0.26672	0.083;0.156	B;B	0.21546	0.035;0.03	T	0.19224	-1.0312	10	0.10902	T	0.67	-18.6446	9.071	0.36493	0.0:0.5813:0.0:0.4187	.	658;764	B4DKA8;P40818	.;UBP8_HUMAN	K	764;764;764;658	ENSP00000379721:N764K;ENSP00000405537:N764K;ENSP00000302239:N764K;ENSP00000412682:N658K	ENSP00000302239:N764K	N	+	3	2	USP8	48572247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.755000	0.26405	0.695000	0.31675	0.650000	0.86243	AAC	-	NULL		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	protein_coding	OTTHUMT00000254541.1	C	NM_005154	rs74840283		50784955	1	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	SNP	1.000	A	A	50784955	C	A	50784955	3	1	243	1	0	0	0	0	1	0	0	0	17096	506	18	3	2346	3	USP8	15	50784955	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09	5	50784955	51746437	38	19617	502	2									
ZNF213	7760	genome.wustl.edu	37	chr16	3191240	3191240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcggcgtgtgcacacCggtgagcggcccttcggctg	15	14	0	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr16:3191240C>T	ENST00000396878.3	+	6	1747	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	ZNF213_ENST00000416391.2_Silent_p.T266T|ZNF213_ENST00000576416.1_Silent_p.T424T|ZNF213_ENST00000574902.1_Silent_p.T424T	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	424					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GTGTGCACACCGGTGAGCGGC	0.662																																																	0								ENSG00000085644						40	41	41					16																	3191240		2196	4299	6495	ZNF213	SO:0001819	synonymous_variant	0			-	HGNC	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.1272C>T	16.37:g.3191240C>T		Somatic	0	42	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	A8K1B9|B4DMG6|Q96IS1	Silent	SNP							pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T424	ENST00000396878.3	37	c.1272	CCDS10495.1	16																																																																																			-	pfscan_Znf_C2H2		0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	protein_coding	OTTHUMT00000437334.1	C	NM_004220	-		3191240	1	no_errors	ENST00000396878	ensembl	human	known	74_37	silent	SNP	0.123	T	T	3191240	C	T	3191240	2	4	243	1	0	0	0	0	0	0	0	1	17776	639	23	1		1	ZNF213	16	3191240	Silent	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		3191240	87163513	39	19618											
C3	718	genome.wustl.edu	37	chr19	6712609	6712609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgatggggatcccgctGcgctctgcctgcaccatgtc	12	15	2	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:6712609G>A	ENST00000245907.6	-	10	1121	c.1029C>T	c.(1027-1029)cgC>cgT	p.R343R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	343					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)	GGATCCCGCTGCGCTCTGCCT	0.587																																																	0								ENSG00000125730						211	184	193					19																	6712609		2203	4300	6503	C3	SO:0001819	synonymous_variant	0			-	HGNC	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.1029C>T	19.37:g.6712609G>A		Somatic	0	32	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A7E236	Silent	SNP							pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.R343	ENST00000245907.6	37	c.1029	CCDS32883.1	19																																																																																			-	NULL		0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	G	NM_000064	-		6712609	-1	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	SNP	0.001	A	A	6712609	G	A	6712609	2	1	243	1	0	0	0	0	0	0	0	1	2206	1306	46	2		2	C3	19	6712609	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09		6712609	52416374	40	19619											
MUC16	94025	genome.wustl.edu	37	chr19	9062573	9062573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcacaggaagagaagcGgaagggaaatcctctactaa	12	7	2	1			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:9062573G>A	ENST00000397910.4	-	3	25076	c.24873C>T	c.(24871-24873)tcC>tcT	p.S8291S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8293	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						GAAGAGAAGCGGAAGGGAAAT	0.512																																																	0								ENSG00000181143						77	77	77					19																	9062573		1987	4167	6154	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	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.24873C>T	19.37:g.9062573G>A		Somatic	0	24	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	32	34.69	Q6ZQW5|Q96RK2	Silent	SNP							pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S8291	ENST00000397910.4	37	c.24873	CCDS54212.1	19																																																																																			-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9062573	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	A	A	9062573	G	A	9062573	2	1	243	1	0	0	0	0	0	0	0	1	9975	1103	39	1		1	MUC16	19	9062573	Silent	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	2349964	9062573	50066410	41	19620											
LILRB1	10859	genome.wustl.edu	37	chr19	55144554	55144554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgctgtgtcagtcacAgggatggatgcaaactttcc	11	11	2	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:55144554A>G	ENST00000396331.1	+	8	1403	c.1046A>G	c.(1045-1047)cAg>cGg	p.Q349R	LILRB1_ENST00000434867.2_Missense_Mutation_p.Q349R|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q349R|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q349R|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q349R|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q385R|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q349R|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q349R|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q349R|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q349R|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q349R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	349	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTCAGTCACAGGGATGGATG	0.542										HNSCC(37;0.09)																																							0								ENSG00000104972						97	102	100					19																	55144554		2203	4300	6503	LILRB1	SO:0001583	missense	0			-	HGNC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1046A>G	19.37:g.55144554A>G	ENSP00000379622:p.Gln349Arg	Somatic	0	64	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	49	33.78	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP							smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q349R	ENST00000396331.1	37	c.1046	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792753	0.00623	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1	2.25	-4.49	0.03504	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.818320	0.00397	N	0.000054	T	0.01835	0.0058	N	0.16098	0.37	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.002;0.007;0.002;0.001;0.004	T	0.40664	-0.9551	10	0.13470	T	0.59	.	1.8021	0.03073	0.4296:0.2253:0.232:0.113	.	349;349;349;349;349	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	R	349;349;349;349;349;349;349;349;385;349;349	ENSP00000379614:Q349R;ENSP00000391514:Q349R;ENSP00000409968:Q349R;ENSP00000379622:Q349R;ENSP00000379618:Q349R;ENSP00000315997:Q349R;ENSP00000405243:Q349R;ENSP00000379623:Q349R;ENSP00000395004:Q385R;ENSP00000379610:Q349R;ENSP00000379608:Q349R	ENSP00000315997:Q349R	Q	+	2	0	LILRB1	59836366	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.352000	0.00248	-5.677000	0.00011	-4.351000	0.00007	CAG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	protein_coding	OTTHUMT00000140796.4	A		-		55144554	1	no_errors	ENST00000324602	ensembl	human	known	74_37	missense	SNP	0.000	G	G	55144554	A	G	55144554	3	3	243	1	0	0	0	0	1	0	0	0	8792	188	7	5	1068	5	LILRB1	19	55144554	Missense_Mutation	SNP	A	TCGA-Z4-A9VC-01A-11D-A37C-09	46081981	55144554	3984429	42	19621											
ZNF264	9422	genome.wustl.edu	37	chr19	57724348	57724348	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccacaagtgtcttcactgtGagaaaaccttctgttgctga	8	11	3	2			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr19:57724348G>T	ENST00000263095.6	+	4	2297	c.1883G>T	c.(1882-1884)tGa>tTa	p.*628L	ZNF264_ENST00000536056.1_Nonstop_Mutation_p.*628L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	0					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(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		TCTTCACTGTGAGAAAACCTT	0.388																																																	0								ENSG00000083844						50	50	50					19																	57724348		2203	4300	6503	ZNF264	SO:0001578	stop_lost	0			-	HGNC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1883G>T	19.37:g.57724348G>T	ENSP00000263095:p.*628Leuext*43	Somatic	0	35	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K8Y9|Q9P1V0	Nonstop_Mutation	SNP							pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.*628L	ENST00000263095.6	37	c.1883	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031863	0.35797	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	2.56	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4546	0.21922	0.1607:0.0:0.8393:0.0	.	.	.	.	L	628	.	.	X	+	2	2	ZNF264	62416160	0.337000	0.24766	0.686000	0.30086	0.841000	0.47740	0.397000	0.20883	0.620000	0.30215	0.491000	0.48974	TGA	-	NULL		0.388	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	protein_coding	OTTHUMT00000465080.1	G		-		57724348	1	no_errors	ENST00000263095	ensembl	human	known	74_37	nonstop	SNP	0.982	T	T	57724348	G	T	57724348	4	4	243	1	0	0	0	0	0	0	0	0	17811	1285	45	3	1897	3	ZNF264	19	57724348	Nonstop_Mutation	SNP	G	TCGA-Z4-A9VC-01A-11D-A37C-09	2579794	57724348	1404635	43	19622											
FERMT1	55612	genome.wustl.edu	37	chr20	6096537	6096537	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctcaccatcttcaaattCggcagacgaaggcgcagcat	8	13	3	1	rs141850118	byFrequency	TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr20:6096537C>T	ENST00000217289.4	-	3	1094	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	102	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTTCAAATTCGGCAGACGAA	0.498													C|||	2	0.000399361	0	0.0014	5008	,	,		20083	0		0.001	False		,,,				2504	0																0								ENSG00000101311	C		0,4406		0,0,2203	86	87	86		306	-11	0	20	dbSNP_134	86	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	FERMT1	NM_017671.4		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		102/678	6096537	5,13001	2203	4300	6503	FERMT1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.306G>A	20.37:g.6096537C>T		Somatic	0	46	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	26	42.22	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP							pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P102	ENST00000217289.4	37	c.306	CCDS13098.1	20																																																																																			-	smart_Band_41_domain		0.498	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	protein_coding	OTTHUMT00000077908.2	C	NM_017671	rs141850118		6096537	-1	no_errors	ENST00000217289	ensembl	human	known	74_37	silent	SNP	0.242	T	T	6096537	C	T	6096537	2	4	243	1	0	0	0	0	0	0	0	1	5819	871	31	1		1	FERMT1	20	6096537	Silent	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		6096537	56928983	44	19623											
OSBP2	23762	genome.wustl.edu	37	chr22	31091420	31091420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggcacgacctccagtgCcccactggccttactgcctc	9	18	0	0			TCGA-Z4-A9VC-01A-11D-A37C-09	TCGA-Z4-A9VC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99b14c9a-4edc-48af-bbaa-5998a4725e0e	230cc662-a4c6-4af8-9952-07e99321c0ee	g.chr22:31091420C>T	ENST00000332585.6	+	1	628	c.524C>T	c.(523-525)gCc>gTc	p.A175V	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Missense_Mutation_p.A175V|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.A175V	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	175					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						ACCTCCAGTGCCCCACTGGCC	0.612																																																	0								ENSG00000184792						48	52	50					22																	31091420		2044	4181	6225	OSBP2	SO:0001583	missense	0			-	HGNC		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.524C>T	22.37:g.31091420C>T	ENSP00000332576:p.Ala175Val	Somatic	0	23	0		0.51722189497785				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP							pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A175V	ENST00000332585.6	37	c.524	CCDS43002.1	22	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515255	0.44763	.	.	ENSG00000184792	ENST00000332585;ENST00000382310;ENST00000446658	T;T;T	0.31247	1.51;1.5;1.51	3.58	1.02	0.19986	.	8.728570	0.00496	N	0.000153	T	0.18425	0.0442	N	0.12182	0.205	0.30283	N	0.791103	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23904	-1.0175	10	0.17369	T	0.5	.	7.059	0.25115	0.0:0.6901:0.0:0.3099	.	175;175;175	B4DFA8;Q0VF99;Q969R2	.;.;OSBP2_HUMAN	V	175	ENSP00000332576:A175V;ENSP00000371747:A175V;ENSP00000392080:A175V	ENSP00000332576:A175V	A	+	2	0	OSBP2	29421420	0.000000	0.05858	0.014000	0.15608	0.594000	0.36715	0.797000	0.26999	0.289000	0.22422	0.655000	0.94253	GCC	-	NULL		0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	protein_coding	OTTHUMT00000321547.2	C	NM_030758	-		31091420	1	no_errors	ENST00000332585	ensembl	human	known	74_37	missense	SNP	0.100	T	T	31091420	C	T	31091420	3	4	243	1	0	0	0	0	1	0	0	0	11276	739	26	2	526	2	OSBP2	22	31091420	Missense_Mutation	SNP	C	TCGA-Z4-A9VC-01A-11D-A37C-09		31091420	20213146	45	19624											
FBXO42	54455	genome.wustl.edu	37	chr1	16577255	16577255	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagtcctccaaatatgatGagttcacccctgccttgtac	7	12	1	3			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:16577255G>T	ENST00000375592.3	-	10	2280	c.2064C>A	c.(2062-2064)ctC>ctA	p.L688L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	688										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CAAATATGATGAGTTCACCCC	0.438																																																	0								ENSG00000037637						177	168	171					1																	16577255		2203	4300	6503	FBXO42	SO:0001819	synonymous_variant	0			-	HGNC	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2064C>A	1.37:g.16577255G>T		Somatic	0	45	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP							pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L688	ENST00000375592.3	37	c.2064	CCDS30613.1	1																																																																																			-	NULL		0.438	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	protein_coding	OTTHUMT00000006285.1	G		-		16577255	-1	no_errors	ENST00000375592	ensembl	human	known	74_37	silent	SNP	1.000	T	T	16577255	G	T	16577255	2	4	244	1	0	0	0	0	0	0	0	1	5753	1277	45	3		3	FBXO42	1	16577255	Silent	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09		16577255	232673366	1	19625											
MAST2	23139	genome.wustl.edu	37	chr1	46501294	46501294	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctcccagctccacctctggGaagctgagcatgtggtcctg	11	15	1	1			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:46501294G>T	ENST00000361297.2	+	29	5236	c.4953G>T	c.(4951-4953)ggG>ggT	p.G1651G	MAST2_ENST00000372009.2_Silent_p.G1461G	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCACCTCTGGGAAGCTGAGCA	0.607																																																	0								ENSG00000086015						48	52	51					1																	46501294		2003	4167	6170	MAST2	SO:0001819	synonymous_variant	0			-	HGNC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4953G>T	1.37:g.46501294G>T		Somatic	0	36	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00		Silent	SNP							pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.G1651	ENST00000361297.2	37	c.4953	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.721827	0.00700	.	.	ENSG00000086015	ENST00000432341	.	.	.	5.55	0.816	0.18768	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.6479	3.9442	0.09341	0.3692:0.182:0.4488:0.0	.	.	.	.	X	620	.	ENSP00000396690:E620X	E	+	1	0	MAST2	46273881	0.010000	0.17322	0.082000	0.20525	0.161000	0.22273	-0.317000	0.08060	0.533000	0.28675	0.556000	0.70494	GAA	-	NULL		0.607	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	G	NM_015112	-		46501294	1	no_errors	ENST00000361297	ensembl	human	known	74_37	silent	SNP	0.009	T	T	46501294	G	T	46501294	2	4	244	1	0	0	0	0	0	0	0	1	9327	1161	41	3		3	MAST2	1	46501294	Silent	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09	29924039	46501294	202749327	2	19626											
IL6R	3570	genome.wustl.edu	37	chr1	154422415	154422415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactaataaagacgatgataAtattctcttcagagattctg	6	6	3	3			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:154422415A>G	ENST00000368485.3	+	8	1462	c.1025A>G	c.(1024-1026)aAt>aGt	p.N342S	IL6R_ENST00000344086.4_Missense_Mutation_p.N342S|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	342					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GACGATGATAATATTCTCTTC	0.438																																																	0								ENSG00000160712						129	129	129					1																	154422415		2203	4300	6503	IL6R	SO:0001583	missense	0			-	HGNC	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1025A>G	1.37:g.154422415A>G	ENSP00000357470:p.Asn342Ser	Somatic	0	58	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP							pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N342S	ENST00000368485.3	37	c.1025	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.984|1.984	-0.433414|-0.433414	0.04669|0.04669	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000476006;ENST00000515190|ENST00000368485;ENST00000344086	.|T;T	.|0.17691	.|2.26;2.27	4.09|4.09	0.282|0.282	0.15692|0.15692	.|.	.|5.149600	.|0.00166	.|N	.|0.000001	T|T	0.03095|0.03095	0.0091|0.0091	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14805	.|0.001;0.011	.|B;B	.|0.09377	.|0.004;0.003	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.02654	.|T	.|1	0.0042|0.0042	5.3845|5.3845	0.16211|0.16211	0.4406:0.3945:0.0:0.1648|0.4406:0.3945:0.0:0.1648	.|.	.|342;342	.|P08887-2;P08887	.|.;IL6RA_HUMAN	V|S	281;145|342	.|ENSP00000357470:N342S;ENSP00000340589:N342S	.|ENSP00000340589:N342S	I|N	+|+	1|2	0|0	IL6R|IL6R	152689039|152689039	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.309000|-0.309000	0.08145|0.08145	0.032000|0.032000	0.15435|0.15435	0.460000|0.460000	0.39030|0.39030	ATA|AAT	-	NULL		0.438	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	protein_coding	OTTHUMT00000087911.1	A	NM_000565	-		154422415	1	no_errors	ENST00000368485	ensembl	human	known	74_37	missense	SNP	0.000	G	G	154422415	A	G	154422415	3	3	244	1	0	0	0	0	1	0	0	0	7704	101	4	5	1055	5	IL6R	1	154422415	Missense_Mutation	SNP	A	TCGA-Z4-AAPF-01A-11D-A38Z-09	107921121	154422415	94828206	3	19627											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T													atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0								ENSG00000077157																																			PPP1R12B	SO:0001627	intron_variant	0				HGNC	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT		Somatic	0	30	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS							pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			-	NULL		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	-	NM_032105			202407190	1	no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	244	0	1	1	1	0	0	0	0	0	12360	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-Z4-AAPF-01A-11D-A38Z-09	47984774	202407189	46843432	4	19628											
C1orf69	200205	genome.wustl.edu	37	chr1	228362561	228362561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagttcccctgaggcctgCggggctgcatcgctgcagga	14	15	0	1			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr1:228362561C>T	ENST00000366711.3	+	2	512	c.510C>T	c.(508-510)tgC>tgT	p.C170C	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	170					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGAGGCCTGCGGGGCTGCAT	0.687																																																	0								ENSG00000181873						21	22	21					1																	228362561		2193	4292	6485	IBA57	SO:0001819	synonymous_variant	0			-	HGNC	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"	615316	"chromosome 1 open reading frame 69"	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.510C>T	1.37:g.228362561C>T		Somatic	0	26	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP							pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.C170	ENST00000366711.3	37	c.510	CCDS31046.1	1																																																																																			-	pfam_GCV_T_N		0.687	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	protein_coding	OTTHUMT00000095980.1	C	NM_001010867	-		228362561	1	no_errors	ENST00000366711	ensembl	human	known	74_37	silent	SNP	0.000	T	T	228362561	C	T	228362561	2	4	244	1	0	0	0	0	0	0	0	1	2059	776	27	1		1	C1orf69	1	228362561	Silent	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09	25955372	228362561	20888060	5	19629											
SLC7A14	57709	genome.wustl.edu	37	chr3	170204083	170204083	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggacgtgttgggattcttGgcttcctctccagtggtggc	14	9	2	0			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr3:170204083G>T	ENST00000231706.5	-	5	1149	c.834C>A	c.(832-834)gcC>gcA	p.A278A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	278					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGGATTCTTGGCTTCCTCTC	0.517																																																	0								ENSG00000013293						353	258	290					3																	170204083		2203	4300	6503	SLC7A14	SO:0001819	synonymous_variant	0			-	HGNC	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.834C>A	3.37:g.170204083G>T		Somatic	0	31	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B3KV33|Q9HCF9	Silent	SNP							pfam_AA-permease/SLC12A_dom	p.A278	ENST00000231706.5	37	c.834	CCDS33892.1	3																																																																																			-	pfam_AA-permease/SLC12A_dom		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	G	NM_020949	-		170204083	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	silent	SNP	1.000	T	T	170204083	G	T	170204083	2	4	244	1	0	0	0	0	0	0	0	1	14704	1335	47	3		3	SLC7A14	3	170204083	Silent	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09		170204083	27818347	6	19630											
VPS8	23355	genome.wustl.edu	37	chr3	184647438	184647438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttattgattgctacttacgtGaccctctgcgagaggtgagt	11	8	1	4			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr3:184647438G>T	ENST00000437079.3	+	33	2956	c.2785G>T	c.(2785-2787)Gac>Tac	p.D929Y	VPS8_ENST00000436792.2_Missense_Mutation_p.D927Y|VPS8_ENST00000446204.2_Missense_Mutation_p.D837Y|VPS8_ENST00000287546.4_Missense_Mutation_p.D929Y|VPS8_ENST00000463687.1_3'UTR	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	929							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTACTTACGTGACCCTCTGCG	0.328																																																	0								ENSG00000156931						83	78	79					3																	184647438		1841	4077	5918	VPS8	SO:0001583	missense	0			-	HGNC	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2785G>T	3.37:g.184647438G>T	ENSP00000397879:p.Asp929Tyr	Somatic	0	47	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP							superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D929Y	ENST00000437079.3	37	c.2785	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433527	0.83776	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.34667	1.45;1.45;1.45;1.35	5.53	5.53	0.82687	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.81802	2.56	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	0.68953	-0.5273	10	0.87932	D	0	-18.4701	19.0583	0.93076	0.0:0.0:1.0:0.0	.	929;837;927	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Y	929;929;927;837	ENSP00000287546:D929Y;ENSP00000397879:D929Y;ENSP00000404704:D927Y;ENSP00000405483:D837Y	ENSP00000287546:D929Y	D	+	1	0	VPS8	186130132	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.815000	0.91973	2.594000	0.87642	0.563000	0.77884	GAC	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold		0.328	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	protein_coding		G	NM_015303	-		184647438	1	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	SNP	1.000	T	T	184647438	G	T	184647438	3	4	244	1	0	0	0	0	1	0	0	0	17225	1290	45	3	2907	3	VPS8	3	184647438	Missense_Mutation	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09	14443355	184647438	13374992	7	19631											
TXK	7294	genome.wustl.edu	37	chr4	48097218	48097218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaatgtcttgaatctctgaCaataaatgcaccttctttag	5	8	3	2			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:48097218C>A	ENST00000264316.4	-	7	608	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	175	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GAATCTCTGACAATAAATGCA	0.338																																																	0								ENSG00000074966						115	111	112					4																	48097218		2203	4300	6503	TXK	SO:0001583	missense	0			-	HGNC	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.523G>T	4.37:g.48097218C>A	ENSP00000264316:p.Val175Phe	Somatic	0	62	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	61	26.51	Q14220	Missense_Mutation	SNP							pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V175F	ENST00000264316.4	37	c.523	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814437	0.90790	.	.	ENSG00000074966	ENST00000264316	D	0.95980	-3.87	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.64402	D	0.000004	D	0.98403	0.9469	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99331	1.0909	10	0.87932	D	0	.	17.965	0.89098	0.0:1.0:0.0:0.0	.	175	P42681	TXK_HUMAN	F	175	ENSP00000264316:V175F	ENSP00000264316:V175F	V	-	1	0	TXK	47791975	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.405000	0.52630	2.725000	0.93324	0.585000	0.79938	GTC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.338	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	protein_coding	OTTHUMT00000219869.7	C	NM_003328	-		48097218	-1	no_errors	ENST00000264316	ensembl	human	known	74_37	missense	SNP	1.000	A	A	48097218	C	A	48097218	3	1	244	1	0	0	0	0	1	0	0	0	16793	478	17	3	1096	3	TXK	4	48097218	Missense_Mutation	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09		48097218	143057058	8	19632											
PDLIM5	10611	genome.wustl.edu	37	chr4	95506840	95506840	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccaaggactggaacaactCagtctcgctctttccgaatc	8	13	3	0			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr4:95506840C>T	ENST00000317968.4	+	6	971	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	PDLIM5_ENST00000318007.5_Nonsense_Mutation_p.Q156*|PDLIM5_ENST00000380180.3_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000450793.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000508216.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000538141.1_Nonsense_Mutation_p.Q156*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.Q176*|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Nonsense_Mutation_p.Q157*|PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.Q170*	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	279					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGAACAACTCAGTCTCGCTC	0.458																																																	0								ENSG00000163110						113	96	102					4																	95506840		2203	4300	6503	PDLIM5	SO:0001587	stop_gained	0			-	HGNC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.835C>T	4.37:g.95506840C>T	ENSP00000321746:p.Gln279*	Somatic	0	21	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Nonsense_Mutation	SNP							pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q279*	ENST00000317968.4	37	c.835	CCDS3641.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.917329	0.98560	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3287	0.94275	0.0:1.0:0.0:0.0	.	.	.	.	X	170;176;156;176;156;279;176;157;176;176	.	ENSP00000321746:Q279X	Q	+	1	0	PDLIM5	95725863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.624000	0.88883	0.650000	0.86243	CAG	-	NULL		0.458	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	protein_coding	OTTHUMT00000253586.1	C		-		95506840	1	no_errors	ENST00000317968	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	95506840	C	T	95506840	4	4	244	1	0	0	0	0	0	1	0	0	11685	827	29	2	915	2	PDLIM5	4	95506840	Nonsense_Mutation	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09	47409622	95506840	95647436	9	19633											
FBXO4	26272	genome.wustl.edu	37	chr5	41929978	41929978	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgatgtcttcagaggAactttgcccaacagctggtt	11	9	2	2			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:41929978A>C	ENST00000281623.3	+	3	661	c.605A>C	c.(604-606)gAa>gCa	p.E202A	FBXO4_ENST00000296812.2_Missense_Mutation_p.E202A|FBXO4_ENST00000509134.1_Missense_Mutation_p.E202A	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	202					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTCAGAGGAACTTTGCCCA	0.398																																																	0								ENSG00000151876						249	232	238					5																	41929978		2203	4300	6503	FBXO4	SO:0001583	missense	0			-	HGNC	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.605A>C	5.37:g.41929978A>C	ENSP00000281623:p.Glu202Ala	Somatic	0	79	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	64	33.33	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP							pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.E202A	ENST00000281623.3	37	c.605	CCDS3938.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692945	0.88735	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	.	.	.	5.76	5.76	0.90799	.	0.095877	0.64402	D	0.000001	T	0.61813	0.2377	L	0.54323	1.7	0.80722	D	1	P;P;P	0.45348	0.682;0.856;0.787	B;B;P	0.46758	0.326;0.322;0.526	T	0.65664	-0.6113	9	0.66056	D	0.02	-12.3463	16.0663	0.80878	1.0:0.0:0.0:0.0	.	202;202;202	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	A	202	.	ENSP00000281623:E202A	E	+	2	0	FBXO4	41965735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.554000	0.53720	2.196000	0.70406	0.533000	0.62120	GAA	-	NULL		0.398	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	protein_coding	OTTHUMT00000211614.1	A		-		41929978	1	no_errors	ENST00000281623	ensembl	human	known	74_37	missense	SNP	1.000	C	C	41929978	A	C	41929978	3	2	244	1	0	0	0	0	1	0	0	0	5750	246	9	5	615	5	FBXO4	5	41929978	Missense_Mutation	SNP	A	TCGA-Z4-AAPF-01A-11D-A38Z-09		41929978	138985282	10	19634											
RAD50	10111	genome.wustl.edu	37	chr5	131927091	131927091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggagatgctgaccaAagacaaagtatgatttttct	8	7	1	4			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:131927091A>G	ENST00000265335.6	+	10	2015	c.1628A>G	c.(1627-1629)aAa>aGa	p.K543R	RAD50_ENST00000378823.3_Missense_Mutation_p.K404R			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	543					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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCTGACCAAAGACAAAGTA	0.378								Homologous recombination																																									0								ENSG00000113522						94	85	88					5																	131927091		2203	4300	6503	RAD50	SO:0001583	missense	0			-	HGNC	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1628A>G	5.37:g.131927091A>G	ENSP00000265335:p.Lys543Arg	Somatic	0	32	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP							pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.K543R	ENST00000265335.6	37	c.1628	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613771	0.46631	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.06687	3.27;3.51	5.96	3.3	0.37823	.	0.130558	0.64402	N	0.000002	T	0.06690	0.0171	N	0.25426	0.745	0.47511	D	0.999449	B	0.15473	0.013	B	0.15484	0.013	T	0.25398	-1.0133	10	0.42905	T	0.14	-22.5084	10.9665	0.47416	0.8549:0.0:0.1451:0.0	.	543	Q92878	RAD50_HUMAN	R	404;543	ENSP00000368100:K404R;ENSP00000265335:K543R	ENSP00000265335:K543R	K	+	2	0	RAD50	131954990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.327000	0.52045	1.094000	0.41399	0.533000	0.62120	AAA	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	protein_coding	OTTHUMT00000132566.5	A	NM_005732	-		131927091	1	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	SNP	1.000	G	G	131927091	A	G	131927091	3	3	244	1	0	0	0	0	1	0	0	0	12992	14	1	5	1666	5	RAD50	5	131927091	Missense_Mutation	SNP	A	TCGA-Z4-AAPF-01A-11D-A38Z-09	89997113	131927091	48988169	11	19635											
CYFIP2	26999	genome.wustl.edu	37	chr5	156751051	156751053	+	In_Frame_Del	DEL	CTT	CTT	-													gaggactttcacaaacagtcCttcttcttcacacatctgct							TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:156751051_156751053delCTT	ENST00000521420.1	+	15	1807_1809	c.1716_1718delCTT	c.(1714-1719)tccttc>tcc	p.F575del	CYFIP2_ENST00000347377.6_In_Frame_Del_p.F601del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.F601del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.F626del|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_In_Frame_Del_p.F405del|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_In_Frame_Del_p.F526del|CYFIP2_ENST00000435847.2_In_Frame_Del_p.F300del					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAAACAGTCCTTCTTCTTCACA	0.537																																																	0								ENSG00000055163																																			CYFIP2	SO:0001651	inframe_deletion	0				HGNC	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1716_1718delCTT	5.37:g.156751057_156751059delCTT	ENSP00000430904:p.Phe575del	Somatic	0	38	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74		In_Frame_Del	DEL							pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.F626in_frame_del	ENST00000521420.1	37	c.1869_1871		5																																																																																			-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.537	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	CTT	NM_001037332			156751053	1	no_errors	ENST00000318218	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	156751053	CTT	-	156751051	7	5	244	1	0	1	0	1	0	0	0	0	4140	668	24	0	1852	0	CYFIP2	5	156751051	In_Frame_Del	DEL	CTT	TCGA-Z4-AAPF-01A-11D-A38Z-09	24823960	156751051	24164209	12	19636											
WWC1	23286	genome.wustl.edu	37	chr5	167855148	167855148	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaggcttccgtgcagaggTaggtgtctgggtgctggctc	17	9	1	1			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr5:167855148T>C	ENST00000265293.4	+	12	2421		c.e12+2		WWC1_ENST00000521089.1_Splice_Site	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1						cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGTGCAGAGGTAGGTGTCTGG	0.602																																																	0								ENSG00000113645						112	100	104					5																	167855148		2203	4300	6503	WWC1	SO:0001630	splice_region_variant	0			-	HGNC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1919+2T>C	5.37:g.167855148T>C		Somatic	0	40	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Splice_Site	SNP							-	e12+2	ENST00000265293.4	37	c.1919+2	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042281	0.35989	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000393895;ENST00000524228	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5569	0.61765	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC1	167787726	1.000000	0.71417	0.995000	0.50966	0.306000	0.27790	7.170000	0.77587	1.801000	0.52704	0.533000	0.62120	.	-	-		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	protein_coding	OTTHUMT00000252791.2	T	NM_015238	-	Intron	167855148	1	no_errors	ENST00000265293	ensembl	human	known	74_37	splice_site	SNP	1.000	C	C	167855148	T	C	167855148	5	2	244	1	0	0	0	0	0	0	1	0	17418	1652	57	5	1967	5	WWC1	5	167855148	Splice_Site	SNP	T	TCGA-Z4-AAPF-01A-11D-A38Z-09	11104097	167855148	13060112	13	19637											
FOXF2	2295	genome.wustl.edu	37	chr6	1391085	1391086	+	In_Frame_Ins	INS	-	-	GGC													ggggcgtcggtgcggccgggINSggcggcggcggcggcgacta					rs58230522|rs147426137|rs147183226|rs111257067|rs397731476	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:1391085_1391086insGGC	ENST00000259806.1	+	1	1017_1018	c.903_904insGGC	c.(904-906)ggc>GGCggc	p.302_302G>GG		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	302	Poly-Gly.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		gtgcggccgggggcggcggcgg	0.748														1967	0.392772	0.3812	0.3429	5008	,	,		10454	0.497		0.3072	False		,,,				2504	0.4243																0								ENSG00000137273			240,298		113,14,142						-6.4	0.1		dbSNP_126	1	607,1133		267,73,530	no	coding	FOXF2	NM_001452.1		380,87,672	A1A1,A1R,RR		34.8851,44.6097,37.1817				847,1431				FOXF2	SO:0001652	inframe_insertion	0				HGNC	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.916_918dupGGC	6.37:g.1391092_1391094dupGGC	ENSP00000259806:p.Gly306dup	Somatic	0	9	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q5TGJ1|Q9UQ85	In_Frame_Ins	INS							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.305in_frame_insG	ENST00000259806.1	37	c.903_904	CCDS4472.1	6																																																																																			-	NULL		0.748	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	protein_coding	OTTHUMT00000043558.1	-				1391086	1	no_errors	ENST00000259806	ensembl	human	known	74_37	in_frame_ins	INS	0.009:0.179	GGC	GGC	1391086	-	GGC	1391085	7	5	244	1	0	1	1	0	0	0	0	0	6008	1219	43	0	905	0	FOXF2	6	1391085	In_Frame_Ins	INS	-	TCGA-Z4-AAPF-01A-11D-A38Z-09		1391085	169723982	14	19638											
FOXC1	2296	genome.wustl.edu	37	chr6	1612142	1612144	+	In_Frame_Del	DEL	GCG	GCG	-													acctgggccacttggcgagcGcggcggcggcggcggcggcc					rs373281258		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	GCG	GCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:1612142_1612144delGCG	ENST00000380874.2	+	1	1462_1464	c.1462_1464delGCG	c.(1462-1464)gcgdel	p.A495del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	495	Poly-Ala.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTGGCGAGCgcggcggcggcgg	0.709																																					Pancreas(133;719 1821 3197 26645 35015)												0								ENSG00000054598			60,2238		8,44,1097						0	0.6			5	176,4724		16,144,2290	no	coding	FOXC1	NM_001453.2		24,188,3387	A1A1,A1R,RR		3.5918,2.611,3.2787				236,6962				FOXC1	SO:0001651	inframe_deletion	0				HGNC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1462_1464delGCG	6.37:g.1612151_1612153delGCG	ENSP00000370256:p.Ala495del	Somatic	0	26	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A491in_frame_del	ENST00000380874.2	37	c.1462_1464	CCDS4473.1	6																																																																																			-	NULL		0.709	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	protein_coding	OTTHUMT00000043450.1	GCG				1612144	1	no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.998:0.994	-	-	1612144	GCG	-	1612142	7	5	244	1	0	1	0	1	0	0	0	0	5996	1087	38	0	1464	0	FOXC1	6	1612142	In_Frame_Del	DEL	GCG	TCGA-Z4-AAPF-01A-11D-A38Z-09	221057	1612142	169502925	15	19639											
FOXO3	2309	genome.wustl.edu	37	chr6	108882648	108882650	+	In_Frame_Del	DEL	CGG	CGG	-													gccggctcggccatggcgatCggcggcggcggcgggagcgg					rs372569038		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CGG	CGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr6:108882648_108882650delCGG	ENST00000343882.6	+	2	541_543	c.237_239delCGG	c.(235-240)atcggc>atc	p.G84del	FOXO3_ENST00000406360.1_In_Frame_Del_p.G84del	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	84					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|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 translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCATGGCGATCGGCGGCGGCGGC	0.759																																																	0								ENSG00000118689																																			FOXO3	SO:0001651	inframe_deletion	0				HGNC	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.237_239delCGG	6.37:g.108882657_108882659delCGG	ENSP00000339527:p.Gly84del	Somatic	0	15	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	In_Frame_Del	DEL							pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G83in_frame_del	ENST00000343882.6	37	c.237_239	CCDS5068.1	6																																																																																			-	NULL		0.759	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	protein_coding	OTTHUMT00000041722.2	CGG				108882650	1	no_errors	ENST00000343882	ensembl	human	known	74_37	in_frame_del	DEL	0.964:0.974:0.982	-	-	108882650	CGG	-	108882648	7	5	244	1	0	1	0	1	0	0	0	0	6026	874	31	0	239	0	FOXO3	6	108882648	In_Frame_Del	DEL	CGG	TCGA-Z4-AAPF-01A-11D-A38Z-09	107270506	108882648	62232419	16	19640											
LHFPL3	375612	genome.wustl.edu	37	chr7	103969325	103969325	+	Nonsense_Mutation	SNP	C	C	A													caccaactatgtgcggaactCgcgggccatcggcgtgctgt							TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:103969325C>A	ENST00000401970.2	+	1	178	c.56C>A	c.(55-57)tCg>tAg	p.S19*	LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.S33*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.S19*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.S33*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	33						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						GTGCGGAACTCGCGGGCCATC	0.667																																																	0								ENSG00000187416						62	73	70					7																	103969325		2201	4300	6501	LHFPL3	SO:0001587	stop_gained	0			-	HGNC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.56C>A	7.37:g.103969325C>A	ENSP00000385374:p.Ser19*	Somatic	0	32	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A1L383|A4D0Q5	Nonsense_Mutation	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.S33*	ENST00000401970.2	37	c.98		7	.	.	.	.	.	.	.	.	.	.	C	39	7.634185	0.98403	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	4.56	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-28.5549	11.6517	0.51292	0.0:0.9113:0.0:0.0887	.	.	.	.	X	19;33;19;33	.	ENSP00000385374:S19X	S	+	2	0	LHFPL3	103756561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.064000	0.61679	0.563000	0.77884	TCG	-	NULL		0.667	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	protein_coding	OTTHUMT00000348284.1	C	NM_199000	-		103969325	1	no_errors	ENST00000535008	ensembl	human	known	74_37	nonsense	SNP	1.000	A	A	103969325	C	A	103969325	4	1	244	1	0	0	0	0	0	1	0	0	8768	893	31	3	100	3	LHFPL3	7	103969325	Nonsense_Mutation	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09		103969325	55169338	17	19641	503	2									
LHFPL3	375612	genome.wustl.edu	37	chr7	103969335	103969335	+	Silent	SNP	C	C	A													gtgcggaactcgcgggccatCggcgtgctgtgggccatctt							TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:103969335C>A	ENST00000401970.2	+	1	188	c.66C>A	c.(64-66)atC>atA	p.I22I	LHFPL3_ENST00000535008.1_Silent_p.I36I|LHFPL3_ENST00000424859.1_Silent_p.I22I|LHFPL3_ENST00000543266.1_Silent_p.I36I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	36						integral component of membrane (GO:0016021)		p.I36I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CGCGGGCCATCGGCGTGCTGT	0.672																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000187416						65	78	74					7																	103969335		2201	4300	6501	LHFPL3	SO:0001819	synonymous_variant	0			-	HGNC	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.66C>A	7.37:g.103969335C>A		Somatic	0	32	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A1L383|A4D0Q5	Silent	SNP							pfam_Lipome_HGMIC_fus_partner-like	p.I36	ENST00000401970.2	37	c.108		7																																																																																			-	pfam_Lipome_HGMIC_fus_partner-like		0.672	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	protein_coding	OTTHUMT00000348284.1	C	NM_199000	-		103969335	1	no_errors	ENST00000535008	ensembl	human	known	74_37	silent	SNP	1.000	A	A	103969335	C	A	103969335	2	1	244	1	0	0	0	0	0	0	0	1	8768	874	31	3		3	LHFPL3	7	103969335	Silent	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09	10	103969335	55169328	18	19642	503	2									
PRSS37	136242	genome.wustl.edu	37	chr7	141537712	141537712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagacagacagtgcctggCctgacattggtggtggcgag	16	8	0	3			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr7:141537712C>A	ENST00000350549.3	-	3	749	c.378G>T	c.(376-378)agG>agT	p.R126S	PRSS37_ENST00000438520.1_Missense_Mutation_p.R126S	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	126	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CAGTGCCTGGCCTGACATTGG	0.537																																																	0								ENSG00000165076						176	151	160					7																	141537712		2203	4300	6503	PRSS37	SO:0001583	missense	0			-	HGNC		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.378G>T	7.37:g.141537712C>A	ENSP00000297767:p.Arg126Ser	Somatic	0	41	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2RPB5	Missense_Mutation	SNP							pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R126S	ENST00000350549.3	37	c.378	CCDS34764.1	7	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092248	0.01858	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.88124	-2.34;-2.34	5.65	-2.03	0.07365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.886480	0.02406	N	0.081181	T	0.69522	0.3120	N	0.08118	0	0.20489	N	0.999899	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.61763	-0.6996	10	0.09338	T	0.73	.	3.1755	0.06567	0.4309:0.3304:0.1055:0.1332	.	126;126	B7ZMK3;A4D1T9	.;PRS37_HUMAN	S	126	ENSP00000297767:R126S;ENSP00000414461:R126S	ENSP00000297767:R126S	R	-	3	2	PRSS37	141184181	0.000000	0.05858	0.062000	0.19696	0.007000	0.05969	-0.475000	0.06599	-0.054000	0.13266	-0.897000	0.02905	AGG	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.537	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS37	protein_coding	OTTHUMT00000347763.1	C	NM_001008270	-		141537712	-1	no_errors	ENST00000350549	ensembl	human	known	74_37	missense	SNP	0.000	A	A	141537712	C	A	141537712	3	1	244	1	0	0	0	0	1	0	0	0	12631	738	26	3	341	3	PRSS37	7	141537712	Missense_Mutation	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09	37568377	141537712	17600951	19	19643											
SCARA3	51435	genome.wustl.edu	37	chr8	27516968	27516968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcccggctggacctcaaCgtccggaacctctccatgat	10	15	2	1	rs373786095		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:27516968C>T	ENST00000301904.3	+	5	1301	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	SCARA3_ENST00000337221.4_Silent_p.N427N	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	427					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)		TGGACCTCAACGTCCGGAACC	0.572																																																	0								ENSG00000168077	C	,	1,4405	2.1+/-5.4	0,1,2202	52	43	46		1281,1281	-2.6	0.7	8		46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SCARA3	NM_016240.2,NM_182826.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	427/607,427/467	27516968	1,13005	2203	4300	6503	SCARA3	SO:0001819	synonymous_variant	0			-	HGNC	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.1281C>T	8.37:g.27516968C>T		Somatic	0	31	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q9UM15|Q9UM16	Silent	SNP							pfam_Collagen	p.N427	ENST00000301904.3	37	c.1281	CCDS34871.1	8																																																																																			-	NULL		0.572	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	protein_coding	OTTHUMT00000376258.2	C	NM_016240	-		27516968	1	no_errors	ENST00000301904	ensembl	human	known	74_37	silent	SNP	0.616	T	T	27516968	C	T	27516968	2	4	244	1	0	0	0	0	0	0	0	1	13887	535	19	1		1	SCARA3	8	27516968	Silent	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09		27516968	118847054	20	19644											
TGS1	96764	genome.wustl.edu	37	chr8	56737232	56737232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactgcatattttggtgaCctaattcgaagaccagcctc	7	11	1	2			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:56737232C>T	ENST00000260129.5	+	13	3009	c.2532C>T	c.(2530-2532)gaC>gaT	p.D844D		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	844	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTTTGGTGACCTAATTCGAA	0.428																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0								ENSG00000137574						124	107	113					8																	56737232		2203	4300	6503	TGS1	SO:0001819	synonymous_variant	0			-	HGNC	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2532C>T	8.37:g.56737232C>T		Somatic	0	106	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	48	44.83	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP							pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.D844	ENST00000260129.5	37	c.2532	CCDS34894.1	8																																																																																			-	pfam_RNA_cap_Gua-N2-MeTrfase		0.428	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	protein_coding	OTTHUMT00000378152.1	C	NM_024831	-		56737232	1	no_errors	ENST00000260129	ensembl	human	known	74_37	silent	SNP	1.000	T	T	56737232	C	T	56737232	2	4	244	1	0	0	0	0	0	0	0	1	15844	506	18	2		2	TGS1	8	56737232	Silent	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09	29220264	56737232	89626790	21	19645											
MYBL1	4603	genome.wustl.edu	37	chr8	67511292	67511292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaacacattaccctctgaTcttcttctttagtccaagga	5	11	4	2			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:67511292T>C	ENST00000522677.3	-	4	694	c.284A>G	c.(283-285)gAt>gGt	p.D95G	MYBL1_ENST00000517885.1_Missense_Mutation_p.D95G|MYBL1_ENST00000524176.2_Missense_Mutation_p.D95G	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	95	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCCTCTGATCTTCTTCTTT	0.328																																																	0								ENSG00000185697						73	70	71					8																	67511292		1903	4165	6068	MYBL1	SO:0001583	missense	0			-	HGNC	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.284A>G	8.37:g.67511292T>C	ENSP00000429633:p.Asp95Gly	Somatic	0	70	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	41	33.87	E7EW29|Q495F9	Missense_Mutation	SNP							pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D95G	ENST00000522677.3	37	c.284	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864811	0.91511	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.50277	1.17;1.6;0.75	5.54	5.54	0.83059	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	0.83142	0.5190	H	0.99764	4.76	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	0.90986	0.4831	10	0.87932	D	0	-16.394	15.6764	0.77326	0.0:0.0:0.0:1.0	.	95;95;95	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	G	95	ENSP00000429633:D95G;ENSP00000428265:D95G;ENSP00000428011:D95G	ENSP00000428265:D95G	D	-	2	0	MYBL1	67673846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.106000	0.64143	0.528000	0.53228	GAT	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.328	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	protein_coding	OTTHUMT00000379221.3	T	XM_034274	-		67511292	-1	no_errors	ENST00000522677	ensembl	human	known	74_37	missense	SNP	1.000	C	C	67511292	T	C	67511292	3	2	244	1	0	0	0	0	1	0	0	0	10011	1435	50	5	2026	5	MYBL1	8	67511292	Missense_Mutation	SNP	T	TCGA-Z4-AAPF-01A-11D-A38Z-09	10774060	67511292	78852730	22	19646											
WDR67	93594	genome.wustl.edu	37	chr8	124132405	124132405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaccaactcatctgttTtgaagttattgctactctca	5	10	3	1			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr8:124132405T>C	ENST00000287380.1	+	11	1637	c.1547T>C	c.(1546-1548)tTt>tCt	p.F516S	TBC1D31_ENST00000521676.1_Missense_Mutation_p.F393S|TBC1D31_ENST00000378080.2_Missense_Mutation_p.F411S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.F149S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.F411S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.F516S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.F516S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	516	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CTCATCTGTTTTGAAGTTATT	0.338																																																	0								ENSG00000156787						92	80	84					8																	124132405		2202	4298	6500	TBC1D31	SO:0001583	missense	0			-	HGNC	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1547T>C	8.37:g.124132405T>C	ENSP00000287380:p.Phe516Ser	Somatic	0	50	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP							pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.F516S	ENST00000287380.1	37	c.1547	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804357	0.90623	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.87	5.87	0.94306	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.65302	-0.6201	10	0.87932	D	0	-22.9665	16.2718	0.82624	0.0:0.0:0.0:1.0	.	516;411;516	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	S	516;516;516;411;393;411;149	ENSP00000287380:F516S;ENSP00000308358:F516S;ENSP00000312701:F516S;ENSP00000429334:F411S;ENSP00000430628:F393S;ENSP00000367320:F411S;ENSP00000429494:F149S	ENSP00000287380:F516S	F	+	2	0	WDR67	124201586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.963000	0.87922	2.239000	0.73571	0.528000	0.53228	TTT	-	pfam_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.338	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	protein_coding	OTTHUMT00000381721.1	T	NM_145647	-		124132405	1	no_errors	ENST00000287380	ensembl	human	known	74_37	missense	SNP	1.000	C	C	124132405	T	C	124132405	3	2	244	1	0	0	0	0	1	0	0	0	17325	1841	64	5	1589	5	WDR67	8	124132405	Missense_Mutation	SNP	T	TCGA-Z4-AAPF-01A-11D-A38Z-09	56621113	124132405	22231617	23	19647											
KIAA0020	9933	genome.wustl.edu	37	chr9	2828769	2828769	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactttgtccagagttcggtGatctgctgactgcaacaaaa	9	10	1	3			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:2828769G>T	ENST00000397885.2	-	9	1068	c.862C>A	c.(862-864)Cac>Aac	p.H288N	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	288	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGAGTTCGGTGATCTGCTGAC	0.323																																																	0								ENSG00000080608						126	117	120					9																	2828769		2201	4300	6501	KIAA0020	SO:0001583	missense	0			-	HGNC	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.862C>A	9.37:g.2828769G>T	ENSP00000380982:p.His288Asn	Somatic	0	42	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP							pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.H288N	ENST00000397885.2	37	c.862	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	G	7.966	0.747937	0.15710	.	.	ENSG00000080608	ENST00000397885	T	0.07688	3.17	5.72	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.467337	0.27696	N	0.018224	T	0.06234	0.0161	L	0.27053	0.805	0.30463	N	0.774128	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14980	-1.0453	10	0.14252	T	0.57	-36.0464	12.2193	0.54425	0.0708:0.131:0.7982:0.0	.	148;288	B2RDG4;Q15397	.;K0020_HUMAN	N	288	ENSP00000380982:H288N	ENSP00000380982:H288N	H	-	1	0	KIAA0020	2818769	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	1.987000	0.40687	2.857000	0.98124	0.650000	0.86243	CAC	-	superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt		0.323	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	protein_coding	OTTHUMT00000051529.3	G	NM_014878	-		2828769	-1	no_errors	ENST00000397885	ensembl	human	known	74_37	missense	SNP	0.962	T	T	2828769	G	T	2828769	3	4	244	1	0	0	0	0	1	0	0	0	8154	1290	45	3	1124	3	KIAA0020	9	2828769	Missense_Mutation	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09		2828769	138384662	24	19648											
TAF1L	138474	genome.wustl.edu	37	chr9	32635503	32635503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagatgaatcttcctcGctgtccgagtctgacatgat	8	13	2	4			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:32635503G>A	ENST00000242310.4	-	1	164	c.75C>T	c.(73-75)agC>agT	p.S25S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	25					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATCTTCCTCGCTGTCCGAGT	0.562																																																	0								ENSG00000122728						78	73	74					9																	32635503		2203	4300	6503	TAF1L	SO:0001819	synonymous_variant	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.75C>T	9.37:g.32635503G>A		Somatic	0	73	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	73	19.78	Q0VG57	Silent	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S25	ENST00000242310.4	37	c.75	CCDS35003.1	9																																																																																			-	pirsf_TAF1_animal,pfam_TAF_II_230-bd		0.562	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32635503	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	SNP	1.000	A	A	32635503	G	A	32635503	2	1	244	1	0	0	0	0	0	0	0	1	15530	1078	38	1		1	TAF1L	9	32635503	Silent	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09	29806734	32635503	108577928	25	19649											
GNE	10020	genome.wustl.edu	37	chr9	36217457	36217457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccaccacatccacgtcctGcacggaggacaaggcctgct	9	16	0	0			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr9:36217457G>T	ENST00000539815.1	-	11	2114	c.2074C>A	c.(2074-2076)Cag>Aag	p.Q692K	GNE_ENST00000377902.5_Missense_Mutation_p.Q692K|GNE_ENST00000396594.3_Missense_Mutation_p.Q723K|GNE_ENST00000539208.1_Missense_Mutation_p.Q582K|GNE_ENST00000447283.2_Missense_Mutation_p.Q618K|GNE_ENST00000543356.2_Missense_Mutation_p.Q687K			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	692	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCCACGTCCTGCACGGAGGAC	0.557																																					GBM(184;106 2118 20004 35750 50727)												0								ENSG00000159921						130	95	107					9																	36217457		2203	4300	6503	GNE	SO:0001583	missense	0			-	HGNC	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2074C>A	9.37:g.36217457G>T	ENSP00000439155:p.Gln692Lys	Somatic	0	31	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP							pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.Q723K	ENST00000539815.1	37	c.2167	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858584	0.51376	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99503	-4.67;-4.67;-4.67;-4.67;-6.03	5.67	5.67	0.87782	.	0.211146	0.50627	D	0.000109	D	0.97651	0.9230	L	0.34521	1.04	0.51767	D	0.99993	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	D	0.97868	1.0284	10	0.08599	T	0.76	-4.4291	17.2557	0.87056	0.0:0.0:1.0:0.0	.	582;651;723;692;618	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	K	692;723;687;692;664;582;618	ENSP00000367134:Q692K;ENSP00000379839:Q723K;ENSP00000439155:Q692K;ENSP00000445117:Q582K;ENSP00000414760:Q618K	ENSP00000340770:Q687K	Q	-	1	0	GNE	36207457	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.189000	0.58358	2.681000	0.91329	0.561000	0.74099	CAG	-	NULL		0.557	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	protein_coding	OTTHUMT00000052412.4	G	NM_005476	-		36217457	-1	no_errors	ENST00000396594	ensembl	human	known	74_37	missense	SNP	1.000	T	T	36217457	G	T	36217457	3	4	244	1	0	0	0	0	1	0	0	0	6524	1328	46	3	98	3	GNE	9	36217457	Missense_Mutation	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09	3581954	36217457	104995974	26	19650											
ZNF503	84858	genome.wustl.edu	37	chr10	77158854	77158854	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcagcagctcttcggAcgtggcgaagcgcttgtcgc	15	12	2	0			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr10:77158854A>T	ENST00000372524.4	-	2	2080	c.1594T>A	c.(1594-1596)Tcc>Acc	p.S532T	ZNF503_ENST00000535216.1_Missense_Mutation_p.S532T|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	532					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGCTCTTCGGACGTGGCGAAG	0.642																																																	0								ENSG00000165655						32	30	31					10																	77158854		2203	4300	6503	ZNF503	SO:0001583	missense	0			-	HGNC	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1594T>A	10.37:g.77158854A>T	ENSP00000361602:p.Ser532Thr	Somatic	0	12	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	12	42.86	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP							pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.S532T	ENST00000372524.4	37	c.1594	CCDS7350.1	10	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862937	0.71949	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.70749	-0.51;-0.51	4.23	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	L	0.58101	1.795	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.82392	-0.0480	10	0.87932	D	0	-19.4971	13.5198	0.61561	1.0:0.0:0.0:0.0	.	532	Q96F45	ZN503_HUMAN	T	532;532;495	ENSP00000361602:S532T;ENSP00000438988:S532T	ENSP00000361594:S495T	S	-	1	0	ZNF503	76828860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.023000	0.93683	1.777000	0.52277	0.523000	0.50628	TCC	-	pfscan_Znf_C2H2		0.642	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	protein_coding	OTTHUMT00000048826.1	A	NM_032772	-		77158854	-1	no_errors	ENST00000372524	ensembl	human	known	74_37	missense	SNP	1.000	T	T	77158854	A	T	77158854	3	4	244	1	0	0	0	0	1	0	0	0	17958	275	10	5	350	5	ZNF503	10	77158854	Missense_Mutation	SNP	A	TCGA-Z4-AAPF-01A-11D-A38Z-09		77158854	58375893	27	19651											
DCHS1	8642	genome.wustl.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-													gcacctggcaccccagccccCagcagcagcagcagcagcag					rs370785084|rs372916982		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																																	1	Insertion - In frame(1)	prostate(1)						ENSG00000166341			54,415,3471		8,0,38,73,269,1582						5.3	1		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				DCHS1	SO:0001651	inframe_deletion	0				HGNC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del	Somatic	0	54	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64	O15098	In_Frame_Del	DEL							pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L33in_frame_del	ENST00000299441.3	37	c.99_97	CCDS7771.1	11																																																																																			-	NULL		0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	CAG	NM_003737			6662748	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-	-	6662748	CAG	-	6662746	7	5	244	1	0	1	0	1	0	0	0	0	4289	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-Z4-AAPF-01A-11D-A38Z-09		6662746	128343770	28	19652											
SLCO2B1	11309	genome.wustl.edu	37	chr11	74880267	74880267	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctgcccacaacctcGgccccagcctcggccccctc	8	23	0	0	rs147147496	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:74880267G>T	ENST00000289575.5	+	5	893	c.498G>T	c.(496-498)tcG>tcT	p.S166S	SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.S50S|SLCO2B1_ENST00000428359.2_Silent_p.S144S|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000525650.1_Silent_p.S22S|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	166					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCACAACCTCGGCCCCAGCCT	0.517																																																	0								ENSG00000137491						50	51	50					11																	74880267		2200	4293	6493	SLCO2B1	SO:0001819	synonymous_variant	0			-	HGNC	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.498G>T	11.37:g.74880267G>T		Somatic	0	39	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP							pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S166	ENST00000289575.5	37	c.498	CCDS8235.1	11																																																																																			-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.517	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	protein_coding	OTTHUMT00000383933.1	G	NM_007256	-		74880267	1	no_errors	ENST00000289575	ensembl	human	known	74_37	silent	SNP	0.000	T	T	74880267	G	T	74880267	2	4	244	1	0	0	0	0	0	0	0	1	14735	1103	39	3		3	SLCO2B1	11	74880267	Silent	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09	68217521	74880267	60126249	29	19653											
ME3	10873	genome.wustl.edu	37	chr11	86160930	86160930	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctccagactgacagtaCcttgacaatgagccctttag	9	11	1	4			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr11:86160930C>T	ENST00000393324.3	-	9	1385		c.e9+1		ME3_ENST00000543262.1_Splice_Site|ME3_ENST00000359636.2_Splice_Site|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial						aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				ACTGACAGTACCTTGACAATG	0.507																																																	0								ENSG00000151376						165	154	158					11																	86160930		2202	4299	6501	ME3	SO:0001630	splice_region_variant	0			-	HGNC	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1131+1G>A	11.37:g.86160930C>T		Somatic	0	34	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	17	43.33	B7Z6V0|Q8TBJ0	Splice_Site	SNP							-	e9+1	ENST00000393324.3	37	c.1131+1	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470689	0.84533	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	.	.	.	5.7	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4023	0.67056	0.0:0.9294:0.0:0.0706	.	.	.	.	.	-1	.	.	.	-	.	.	ME3	85838578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.707000	0.84623	1.416000	0.47057	0.650000	0.86243	.	-	-		0.507	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	protein_coding	OTTHUMT00000393767.2	C		-	Intron	86160930	-1	no_errors	ENST00000359636	ensembl	human	known	74_37	splice_site	SNP	1.000	T	T	86160930	C	T	86160930	5	4	244	1	0	0	0	0	0	0	1	0	9421	521	18	2	706	2	ME3	11	86160930	Splice_Site	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09	11280663	86160930	48845586	30	19654											
KRT5	3852	genome.wustl.edu	37	chr12	52910467	52910467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtaagtggcgatctccaCgtccagggccagcttggtgt	15	11	1	0			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:52910467C>T	ENST00000252242.4	-	7	1783	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	465	Coil 2.|Rod.				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)		GCGATCTCCACGTCCAGGGCC	0.602																																																	0								ENSG00000186081						131	116	121					12																	52910467		2203	4300	6503	KRT5	SO:0001583	missense	0			-	HGNC		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.1393G>A	12.37:g.52910467C>T	ENSP00000252242:p.Val465Met	Somatic	0	39	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP							pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.V465M	ENST00000252242.4	37	c.1393	CCDS8830.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.957592|2.957592	0.53400|0.53400	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000548409|ENST00000252242;ENST00000456000	.|D	.|0.86230	.|-2.09	5.93|5.93	3.86|3.86	0.44501|0.44501	.|Filament (1);	.|0.157818	.|0.30969	.|N	.|0.008512	D|D	0.83778|0.83778	0.5328|0.5328	L|L	0.48986|0.48986	1.54|1.54	0.41772|0.41772	D|D	0.989772|0.989772	.|P	.|0.52170	.|0.951	.|P	.|0.49683	.|0.619	T|T	0.80286|0.80286	-0.1446|-0.1446	5|10	.|0.27785	.|T	.|0.31	.|.	4.5599|4.5599	0.12154|0.12154	0.0:0.5754:0.0:0.4246|0.0:0.5754:0.0:0.4246	.|.	.|465	.|P13647	.|K2C5_HUMAN	H|M	172|465;430	.|ENSP00000252242:V465M	.|ENSP00000252242:V465M	R|V	-|-	2|1	0|0	KRT5|KRT5	51196734|51196734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.413000|3.413000	0.52686|0.52686	1.482000|1.482000	0.48325|0.48325	0.655000|0.655000	0.94253|0.94253	CGT|GTG	-	pfam_IF		0.602	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	protein_coding	OTTHUMT00000405312.1	C		-		52910467	-1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	SNP	1.000	T	T	52910467	C	T	52910467	3	4	244	1	0	0	0	0	1	0	0	0	8481	536	19	1	391	1	KRT5	12	52910467	Missense_Mutation	SNP	C	TCGA-Z4-AAPF-01A-11D-A38Z-09		52910467	80941428	31	19655											
MMP17	4326	genome.wustl.edu	37	chr12	132313098	132313099	+	In_Frame_Ins	INS	-	-	GCTGCCGCT													ccagggcccggactctcgcgINSgctgccgctgccgctgctgc					rs559842978|rs201578983|rs71072797	byFrequency	TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr12:132313098_132313099insGCTGCCGCT	ENST00000360564.1	+	1	161_162	c.59_60insGCTGCCGCT	c.(58-63)cggctg>cgGCTGCCGCTgctg	p.21_22insPLL		NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	21					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	ggactctcgcggctgccgctgc	0.837														4777	0.953874	0.8797	0.9741	5008	,	,		2816	0.999		0.9702	False		,,,				2504	0.9765																0								ENSG00000198598																																			MMP17	SO:0001652	inframe_insertion	0				HGNC	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.60_68dupGCTGCCGCT	12.37:g.132313099_132313107dupGCTGCCGCT	ENSP00000353767:p.Leu21_Pro22insProLeuLeu	Somatic					0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1				Q14850	In_Frame_Ins	INS							pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.24in_frame_insLPL	ENST00000360564.1	37	c.59_60	CCDS31927.1	12																																																																																			-	pirsf_Pept_M10A_Metazoans		0.837	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	protein_coding	OTTHUMT00000397757.1	-	NM_016155			132313099	1	no_errors	ENST00000360564	ensembl	human	known	74_37	in_frame_ins	INS	0.023:0.052	GCTGCCGCT	GCTGCCGCT	132313099	-	GCTGCCGCT	132313098	7	5	244	1	0	1	1	0	0	0	0	0	9658	1116	39	0	61	0	MMP17	12	132313098	In_Frame_Ins	INS	-	TCGA-Z4-AAPF-01A-11D-A38Z-09	79402631	132313098	1538797	32	19656											
SPTB	6710	genome.wustl.edu	37	chr14	65268039	65268039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatgatgcccagctggcGctcagccacattgaatgcgt	13	12	1	2			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr14:65268039G>A	ENST00000389721.5	-	6	759	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	SPTB_ENST00000556626.1_Missense_Mutation_p.R243C|SPTB_ENST00000542895.1_Missense_Mutation_p.R243C|SPTB_ENST00000389720.3_Missense_Mutation_p.R243C|SPTB_ENST00000389722.3_Missense_Mutation_p.R243C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	243	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)	p.R243C(1)		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)		CCCAGCTGGCGCTCAGCCACA	0.607											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	central_nervous_system(1)						ENSG00000070182						81	62	69					14																	65268039		2203	4300	6503	SPTB	SO:0001583	missense	0			-	HGNC		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.727C>T	14.37:g.65268039G>A	ENSP00000374371:p.Arg243Cys	Somatic	0	33	0	1082	0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q15510|Q15519	Missense_Mutation	SNP							pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R243C	ENST00000389721.5	37	c.727	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852094	0.71719	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.3	0.37823	Calponin homology domain (5);	0.187852	0.44483	D	0.000444	T	0.69378	0.3104	M	0.85299	2.745	0.43824	D	0.996394	D;D	0.60160	0.974;0.987	P;P	0.51170	0.661;0.653	T	0.77611	-0.2523	10	0.87932	D	0	.	13.9403	0.64050	0.0:0.0:0.6869:0.3131	.	243;247	P11277;Q59FP5	SPTB1_HUMAN;.	C	247;243;243;243;243;243	ENSP00000374372:R243C;ENSP00000451752:R243C;ENSP00000374371:R243C;ENSP00000443882:R243C;ENSP00000374370:R243C	ENSP00000374370:R243C	R	-	1	0	SPTB	64337792	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	3.169000	0.50809	1.221000	0.43506	0.460000	0.39030	CGC	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	G		-		65268039	-1	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	SNP	1.000	A	A	65268039	G	A	65268039	3	1	244	1	0	0	0	0	1	0	0	0	15125	1087	38	1	6448	1	SPTB	14	65268039	Missense_Mutation	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09		65268039	42081501	33	19657											
ZNF652	22834	genome.wustl.edu	37	chr17	47395063	47395063	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagttttcaaccagctcctGacaagaactggctgtgtggc	10	11	1	2			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr17:47395063G>T	ENST00000362063.2	-	2	343	c.25C>A	c.(25-27)Cag>Aag	p.Q9K	ZNF652_ENST00000430262.2_Missense_Mutation_p.Q9K	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	9					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(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ACCAGCTCCTGACAAGAACTG	0.418																																																	0								ENSG00000198740						42	40	41					17																	47395063		2203	4300	6503	ZNF652	SO:0001583	missense	0			-	HGNC	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.25C>A	17.37:g.47395063G>T	ENSP00000354686:p.Gln9Lys	Somatic	0	57	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A4QPD9|Q5H9Q0	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q9K	ENST00000362063.2	37	c.25	CCDS32677.1	17	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187400	0.21870	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98849	-5.18;-5.18	5.76	5.76	0.90799	.	0.215613	0.49305	D	0.000150	D	0.96027	0.8706	N	0.14661	0.345	0.42855	D	0.99409	B	0.02656	0.0	B	0.04013	0.001	D	0.91889	0.5522	10	0.54805	T	0.06	-6.7973	19.5764	0.95446	0.0:0.0:1.0:0.0	.	9	Q9Y2D9	ZN652_HUMAN	K	9	ENSP00000354686:Q9K;ENSP00000416305:Q9K	ENSP00000354686:Q9K	Q	-	1	0	ZNF652	44750062	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.900000	0.63252	2.726000	0.93360	0.655000	0.94253	CAG	-	NULL		0.418	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	protein_coding	OTTHUMT00000364524.1	G	NM_014897	-		47395063	-1	no_errors	ENST00000362063	ensembl	human	known	74_37	missense	SNP	1.000	T	T	47395063	G	T	47395063	3	4	244	1	0	0	0	0	1	0	0	0	18072	1299	45	3	1815	3	ZNF652	17	47395063	Missense_Mutation	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09		47395063	33800147	34	19658											
RNF126	55658	genome.wustl.edu	37	chr19	648399	648399	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccagggcacgatgcagccGtcgtggaacaggtggttgca	16	10	0	0	rs146932907		TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr19:648399G>C	ENST00000292363.5	-	8	914	c.759C>G	c.(757-759)gaC>gaG	p.D253E		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		CGATGCAGCCGTCGTGGAACA	0.716																																																	0								ENSG00000070423						14	13	13					19																	648399		2169	4257	6426	RNF126	SO:0001583	missense	0			-	HGNC	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.759C>G	19.37:g.648399G>C	ENSP00000292363:p.Asp253Glu	Somatic	0	14	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00		Missense_Mutation	SNP							pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D253E	ENST00000292363.5	37	c.759	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	-	13.24	2.177377	0.38413	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.39997	1.05	3.92	-1.7	0.08159	.	0.060931	0.64402	U	0.000004	T	0.15739	0.0379	N	0.02120	-0.675	0.26098	N	0.980863	P;P	0.38745	0.645;0.616	B;B	0.41571	0.148;0.36	T	0.36866	-0.9730	10	0.22109	T	0.4	.	8.6292	0.33908	0.5201:0.0:0.4799:0.0	.	253;105	Q9BV68-2;Q9NPN4	.;.	E	253	ENSP00000292363:D253E	ENSP00000292363:D253E	D	-	3	2	RNF126	599399	0.015000	0.18098	0.973000	0.42090	0.772000	0.43724	-0.285000	0.08410	-0.032000	0.13758	-0.734000	0.03567	GAC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.716	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	protein_coding	OTTHUMT00000452104.2	G	NM_017876	-		648399	-1	no_errors	ENST00000292363	ensembl	human	known	74_37	missense	SNP	0.992	C	C	648399	G	C	648399	3	2	244	1	0	0	0	0	1	0	0	0	13443	1136	40	4	184	4	RNF126	19	648399	Missense_Mutation	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09		648399	58480584	35	19659											
EXOSC5	56915	genome.wustl.edu	37	chr19	41893449	41893449	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtagagccccttggtgctGgacatcagcagcttccgttc	12	12	1	1			TCGA-Z4-AAPF-01A-11D-A38Z-09	TCGA-Z4-AAPF-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18bdc8dd-e197-4e9f-8b9d-2f340e191aa7	0a413fb9-5f33-44d6-a538-78b9fd54dd0e	g.chr19:41893449G>T	ENST00000221233.4	-	5	735	c.585C>A	c.(583-585)tcC>tcA	p.S195S	EXOSC5_ENST00000596905.1_Silent_p.S157S|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	195					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|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)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTTGGTGCTGGACATCAGCA	0.597																																																	0								ENSG00000077348						74	43	53					19																	41893449		2203	4300	6503	EXOSC5	SO:0001819	synonymous_variant	0			-	HGNC	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.585C>A	19.37:g.41893449G>T		Somatic	0	38	0		0.675464477819932				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q32Q81|Q8NG16|Q96I89	Silent	SNP							pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.S195	ENST00000221233.4	37	c.585	CCDS12580.1	19																																																																																			-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2		0.597	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	protein_coding	OTTHUMT00000463492.1	G	NM_020158	-		41893449	-1	no_errors	ENST00000221233	ensembl	human	known	74_37	silent	SNP	0.949	T	T	41893449	G	T	41893449	2	4	244	1	0	0	0	0	0	0	0	1	5320	1335	47	3		3	EXOSC5	19	41893449	Silent	SNP	G	TCGA-Z4-AAPF-01A-11D-A38Z-09	41245050	41893449	17235534	36	19660											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74929214	74929214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcatctctgctgatacgaGggtggaacgcatgtcctgaa	11	9	2	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr1:74929214G>T	ENST00000370899.3	+	23	2441	c.2404G>T	c.(2404-2406)Ggg>Tgg	p.G802W	TNNI3K_ENST00000370891.2_Missense_Mutation_p.G802W|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G701W|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G815W	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GCTGATACGAGGGTGGAACGC	0.438																																																	0								ENSG00000259030						147	132	137					1																	74929214		2203	4300	6503	FPGT-TNNI3K	SO:0001583	missense	0			-	HGNC			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2404G>T	1.37:g.74929214G>T	ENSP00000359936:p.Gly802Trp	Somatic	0	43	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26		Missense_Mutation	SNP							pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G815W	ENST00000370899.3	37	c.2443		1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488701	0.84962	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	L	0.37697	1.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.98;0.977;0.965	D	0.87035	0.2137	10	0.72032	D	0.01	.	19.2533	0.93933	0.0:0.0:1.0:0.0	.	701;802;802	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	W	802;802;802;701	ENSP00000359936:G802W;ENSP00000450895:G802W;ENSP00000359928:G802W;ENSP00000322251:G701W	ENSP00000322251:G701W	G	+	1	0	RP11-653A5.2;AC093158.1	74701802	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.281000	0.78621	2.634000	0.89283	0.655000	0.94253	GGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	protein_coding	OTTHUMT00000026438.3	G		-		74929214	1	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	SNP	1.000	T	T	74929214	G	T	74929214	3	4	245	1	0	0	0	0	1	0	0	0	16336	1000	35	3	2538	3	TNNI3K	1	74929214	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09		74929214	174321407	1	19661											
DENND2C	163259	genome.wustl.edu	37	chr1	115130449	115130449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgggaggtgtgggacttacgGaatggttccctttggaaaac	15	7	0	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr1:115130449G>T	ENST00000393274.1	-	19	3181	c.2556C>A	c.(2554-2556)ttC>ttA	p.F852L	DENND2C_ENST00000393277.1_Missense_Mutation_p.F740L|DENND2C_ENST00000393276.3_Missense_Mutation_p.F795L|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	852	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GGGACTTACGGAATGGTTCCC	0.483																																																	0								ENSG00000175984						109	92	98					1																	115130449		2203	4300	6503	DENND2C	SO:0001583	missense	0			-	HGNC		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2556C>A	1.37:g.115130449G>T	ENSP00000376955:p.Phe852Leu	Somatic	0	58	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP							pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.F852L	ENST00000393274.1	37	c.2556	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641375	0.87859	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	D;D;D	0.82433	-1.61;-1.61;-1.61	5.9	3.06	0.35304	dDENN (3);	0.046236	0.85682	D	0.000000	D	0.88127	0.6353	M	0.89287	3.02	0.28585	N	0.909922	D;D	0.71674	0.997;0.998	D;D	0.75484	0.958;0.986	D	0.83708	0.0186	10	0.87932	D	0	.	11.2588	0.49069	0.1899:0.0:0.8101:0.0	.	852;795	Q68D51;Q68D51-3	DEN2C_HUMAN;.	L	795;852;852;740	ENSP00000376957:F795L;ENSP00000376955:F852L;ENSP00000376958:F740L	ENSP00000358553:F852L	F	-	3	2	DENND2C	114931972	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.269000	0.51592	0.427000	0.26145	0.551000	0.68910	TTC	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.483	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	protein_coding	OTTHUMT00000314822.1	G	NM_198459	-		115130449	-1	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	SNP	1.000	T	T	115130449	G	T	115130449	3	4	245	1	0	0	0	0	1	0	0	0	4432	1165	41	3	242	3	DENND2C	1	115130449	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	40201235	115130449	134120172	2	19662											
C1orf101	257044	genome.wustl.edu	37	chr1	244640895	244640895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtggagtgtgccagaaaCttgttttgtgctaaataaaa	11	4	0	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr1:244640895C>A	ENST00000366534.4	+	3	221	c.167C>A	c.(166-168)aCt>aAt	p.T56N	C1orf101_ENST00000366533.4_Missense_Mutation_p.T56N|C1orf101_ENST00000366531.3_De_novo_Start_InFrame|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	56			T -> S (in dbSNP:rs58602830).			CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-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(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTGCCAGAAACTTGTTTTGTG	0.274																																																	0								ENSG00000179397						181	200	193					1																	244640895		2203	4299	6502	C1orf101	SO:0001583	missense	0			-	HGNC	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.167C>A	1.37:g.244640895C>A	ENSP00000355492:p.Thr56Asn	Somatic	0	87	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP							NULL	p.T56N	ENST00000366534.4	37	c.167	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	4.891	0.165659	0.09339	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.33654	1.41;1.41;1.4	4.16	-0.068	0.13758	.	1.779410	0.03075	N	0.157748	T	0.31420	0.0796	L	0.40543	1.245	0.09310	N	0.999999	P;P;P	0.36837	0.571;0.571;0.571	B;B;B	0.36464	0.225;0.225;0.225	T	0.26121	-1.0112	10	0.51188	T	0.08	.	6.6306	0.22855	0.0:0.5398:0.2809:0.1793	.	46;56;56	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	N	56;56;56;46	ENSP00000355492:T56N;ENSP00000355491:T56N;ENSP00000395796:T46N	ENSP00000355491:T56N	T	+	2	0	C1orf101	242707518	0.001000	0.12720	0.004000	0.12327	0.179000	0.23085	-0.910000	0.04054	-0.191000	0.10448	-0.797000	0.03246	ACT	-	NULL		0.274	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	protein_coding	OTTHUMT00000096701.1	C	NM_173807	-		244640895	1	no_errors	ENST00000366534	ensembl	human	novel	74_37	missense	SNP	0.007	A	A	244640895	C	A	244640895	3	1	245	1	0	0	0	0	1	0	0	0	1978	565	20	3	177	3	C1orf101	1	244640895	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	129510446	244640895	4609726	3	19663											
KIAA1310	55683	genome.wustl.edu	37	chr2	97276511	97276511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccaagctgttctcagctCgaatcttctcccggaagtcc	7	16	3	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr2:97276511C>T	ENST00000431828.1	-	11	1347	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.R337Q|KANSL3_ENST00000440133.1_Missense_Mutation_p.R218Q|KANSL3_ENST00000599854.1_Missense_Mutation_p.R337Q			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	424					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)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTTCTCAGCTCGAATCTTCTC	0.507																																																	0								ENSG00000114982						124	122	123					2																	97276511		1915	4135	6050	KANSL3	SO:0001583	missense	0			-	HGNC	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1271G>A	2.37:g.97276511C>T	ENSP00000396749:p.Arg424Gln	Somatic	0	49	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	20	51.22	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP							NULL	p.R424Q	ENST00000431828.1	37	c.1271	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.163128	0.94727	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.22743	1.94;1.94;1.94	5.92	5.92	0.95590	.	0.052599	0.85682	D	0.000000	T	0.26666	0.0652	N	0.14661	0.345	0.80722	D	1	P;D;P;D	0.71674	0.836;0.997;0.803;0.998	B;P;B;P	0.58780	0.167;0.663;0.147;0.845	T	0.02444	-1.1158	10	0.37606	T	0.19	.	17.8105	0.88614	0.0:1.0:0.0:0.0	.	218;424;337;312	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	Q	337;312;424;337;218;218;337	ENSP00000396749:R424Q;ENSP00000400678:R337Q;ENSP00000406207:R218Q	ENSP00000346144:R337Q	R	-	2	0	KIAA1310	96640238	1.000000	0.71417	0.848000	0.33437	0.989000	0.77384	5.811000	0.69187	2.809000	0.96659	0.557000	0.71058	CGA	-	NULL		0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	protein_coding	OTTHUMT00000339040.2	C	NM_017991	-		97276511	-1	no_errors	ENST00000431828	ensembl	human	known	74_37	missense	SNP	0.995	T	T	97276511	C	T	97276511	3	4	245	1	0	0	0	0	1	0	0	0	8224	884	31	1	1409	1	KIAA1310	2	97276511	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09		97276511	145922862	4	19664											
LONRF2	164832	genome.wustl.edu	37	chr2	100900776	100900776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcaattatttctctccCtggcattagccagctcttgc	5	12	3	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr2:100900776C>T	ENST00000393437.3	-	12	2888	c.2249G>A	c.(2248-2250)aGg>aAg	p.R750K	LONRF2_ENST00000409647.1_Missense_Mutation_p.R507K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	750							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATTTCTCTCCCTGGCATTAGC	0.478																																																	0								ENSG00000170500						26	22	23					2																	100900776		2197	4297	6494	LONRF2	SO:0001583	missense	0			-	HGNC	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.2249G>A	2.37:g.100900776C>T	ENSP00000377086:p.Arg750Lys	Somatic	0	49	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	18	69.49	B9A006|Q6ZSR4	Missense_Mutation	SNP							pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R750K	ENST00000393437.3	37	c.2249	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	6.472	0.455277	0.12283	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84660	-1.72;-1.88	5.24	1.29	0.21616	.	0.984141	0.08265	N	0.972358	T	0.66177	0.2763	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.50259	-0.8849	10	0.20046	T	0.44	-2.7776	2.7117	0.05176	0.1336:0.4353:0.2751:0.156	.	750	Q1L5Z9	LONF2_HUMAN	K	750;507	ENSP00000377086:R750K;ENSP00000386823:R507K	ENSP00000377086:R750K	R	-	2	0	LONRF2	100267208	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	-0.024000	0.12435	-0.043000	0.13513	0.655000	0.94253	AGG	-	NULL		0.478	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	protein_coding	OTTHUMT00000253161.2	C	NM_198461	-		100900776	-1	no_errors	ENST00000393437	ensembl	human	known	74_37	missense	SNP	0.000	T	T	100900776	C	T	100900776	3	4	245	1	0	0	0	0	1	0	0	0	8897	681	24	2	19	2	LONRF2	2	100900776	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	3624265	100900776	142298597	5	19665											
DNAH7	56171	genome.wustl.edu	37	chr2	196619234	196619234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaccaacctcatacCattgctagggtgtaaaacac	10	10	1	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr2:196619234C>A	ENST00000312428.6	-	63	11691	c.11591G>T	c.(11590-11592)tGg>tTg	p.W3864L	DNAH7_ENST00000409063.1_Missense_Mutation_p.W347L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3864					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACCTCATACCATTGCTAGGG	0.488																																																	0								ENSG00000118997						78	80	80					2																	196619234		1904	4119	6023	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11591G>T	2.37:g.196619234C>A	ENSP00000311273:p.Trp3864Leu	Somatic	0	67	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.W3864L	ENST00000312428.6	37	c.11591	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480531	0.63849	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09445	2.98;2.98	5.55	5.55	0.83447	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75167	-0.3413	10	0.87932	D	0	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	3864	Q8WXX0	DYH7_HUMAN	L	3864;347	ENSP00000311273:W3864L;ENSP00000386912:W347L	ENSP00000311273:W3864L	W	-	2	0	DNAH7	196327479	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.332000	0.79203	2.885000	0.99019	0.655000	0.94253	TGG	-	pfam_Dynein_heavy_dom		0.488	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	C	NM_018897	-		196619234	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	1.000	A	A	196619234	C	A	196619234	3	1	245	1	0	0	0	0	1	0	0	0	4608	595	21	3	495	3	DNAH7	2	196619234	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	95718458	196619234	46580139	6	19666											
DYTN	391475	genome.wustl.edu	37	chr2	207530749	207530749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttaactgttttttaaGgagcctgaaaagagaacaga	10	4	0	3			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr2:207530749G>A	ENST00000452335.2	-	10	1101	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	329						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTTTTAAGGAGCCTGAAA	0.403																																																	0								ENSG00000232125						137	122	127					2																	207530749		1834	4080	5914	DYTN	SO:0001583	missense	0			-	HGNC	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.985C>T	2.37:g.207530749G>A	ENSP00000396593:p.Leu329Phe	Somatic	0	77	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	31	55.07		Missense_Mutation	SNP							pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.L329F	ENST00000452335.2	37	c.985	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274445	0.40194	.	.	ENSG00000232125	ENST00000452335	T	0.15603	2.41	4.33	2.46	0.29980	.	.	.	.	.	T	0.20536	0.0494	L	0.29908	0.895	0.22050	N	0.999392	D	0.69078	0.997	D	0.63597	0.916	T	0.12811	-1.0533	9	0.13853	T	0.58	-5.7163	6.4251	0.21766	0.2317:0.0:0.7683:0.0	.	329	A2CJ06	DYTN_HUMAN	F	329	ENSP00000396593:L329F	ENSP00000396593:L329F	L	-	1	0	DYTN	207238994	0.984000	0.35163	0.660000	0.29694	0.512000	0.34134	0.996000	0.29719	0.717000	0.32145	0.561000	0.74099	CTT	-	NULL		0.403	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	protein_coding	OTTHUMT00000336799.1	G		-		207530749	-1	no_errors	ENST00000452335	ensembl	human	known	74_37	missense	SNP	0.930	A	A	207530749	G	A	207530749	3	1	245	1	0	0	0	0	1	0	0	0	4863	1000	35	2	763	2	DYTN	2	207530749	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	10911515	207530749	35668624	7	19667											
GMPPA	29926	genome.wustl.edu	37	chr2	220371491	220371491	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccacacaaggagctgagcCgaagcttcaccaaccagatc	9	14	1	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr2:220371491C>T	ENST00000358215.3	+	13	1603	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	GMPPA_ENST00000373908.1_Nonsense_Mutation_p.R412*|GMPPA_ENST00000313597.5_Nonsense_Mutation_p.R412*|GMPPA_ENST00000373917.3_Nonsense_Mutation_p.R465*|GMPPA_ENST00000341142.3_Nonsense_Mutation_p.R412*|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	412					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGAGCTGAGCCGAAGCTTCAC	0.622																																																	0								ENSG00000144591						100	80	87					2																	220371491		2203	4300	6503	GMPPA	SO:0001587	stop_gained	0			-	HGNC	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1234C>T	2.37:g.220371491C>T	ENSP00000350949:p.Arg412*	Somatic	0	67	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	40	35.48	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Nonsense_Mutation	SNP							pfam_NTP_transferase	p.R412*	ENST00000358215.3	37	c.1234	CCDS2441.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.332760	0.95733	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	.	.	.	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2929	11.528	0.50591	0.1794:0.8206:0.0:0.0	.	.	.	.	X	412;465;412;412;412	.	ENSP00000315925:R412X	R	+	1	2	GMPPA	220079735	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.736000	0.38187	1.977000	0.57605	0.467000	0.42956	CGA	-	NULL		0.622	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPPA	protein_coding	OTTHUMT00000130230.1	C	NM_013335	-		220371491	1	no_errors	ENST00000313597	ensembl	human	known	74_37	nonsense	SNP	1.000	T	T	220371491	C	T	220371491	4	4	245	1	0	0	0	0	0	1	0	0	6496	644	23	1	1280	1	GMPPA	2	220371491	Nonsense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	12840742	220371491	22827882	8	19668											
DOCK10	55619	genome.wustl.edu	37	chr2	225659678	225659678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcaggagtgcttgcgtagGagtttgccaggctgtactgg	16	7	1	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr2:225659678G>A	ENST00000258390.7	-	45	5139	c.5072C>T	c.(5071-5073)tCc>tTc	p.S1691F	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1685F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1691	DHR-2.				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)		GCTTGCGTAGGAGTTTGCCAG	0.512																																																	0								ENSG00000135905						150	156	154					2																	225659678		2073	4224	6297	DOCK10	SO:0001583	missense	0			-	HGNC	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.5072C>T	2.37:g.225659678G>A	ENSP00000258390:p.Ser1691Phe	Somatic	0	67	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	39	27.78	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP							pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1691F	ENST00000258390.7	37	c.5072	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807312	0.90623	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.68025	4.5;-0.3	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86497	0.5947	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;1.0	D;D;D;D	0.91635	0.992;0.991;0.999;0.983	D	0.88833	0.3307	10	0.87932	D	0	.	19.7791	0.96410	0.0:0.0:1.0:0.0	.	1691;545;1685;353	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	F	1685;1691;229	ENSP00000386694:S1685F;ENSP00000258390:S1691F	ENSP00000258390:S1691F	S	-	2	0	DOCK10	225367922	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.476000	0.97823	2.683000	0.91414	0.557000	0.71058	TCC	-	superfamily_ARM-type_fold		0.512	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G		-		225659678	-1	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	SNP	1.000	A	A	225659678	G	A	225659678	3	1	245	1	0	0	0	0	1	0	0	0	4687	1174	41	2	1536	2	DOCK10	2	225659678	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	5288187	225659678	17539695	9	19669											
ZBTB20	26137	genome.wustl.edu	37	chr3	114057869	114057869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttatccgtcagacacatGcatcctcatgtggtcgttga	8	11	2	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr3:114057869G>A	ENST00000474710.1	-	5	2387	c.2209C>T	c.(2209-2211)Cat>Tat	p.H737Y	ZBTB20_ENST00000462705.1_Missense_Mutation_p.H664Y|ZBTB20_ENST00000481632.1_Missense_Mutation_p.H664Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.H664Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.H664Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.H664Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.H664Y	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	737						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCAGACACATGCATCCTCATG	0.448																																					NSCLC(69;748 1344 9802 11203 30933)												0								ENSG00000181722						80	79	79					3																	114057869		2203	4299	6502	ZBTB20	SO:0001583	missense	0			-	HGNC	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2209C>T	3.37:g.114057869G>A	ENSP00000419153:p.His737Tyr	Somatic	0	48	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP							pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H737Y	ENST00000474710.1	37	c.2209	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620690	0.66787	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.26067	1.86;1.86;1.86;1.86;1.76;1.86;1.86	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.104565	0.64402	D	0.000003	T	0.65565	0.2703	H	0.95004	3.61	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.73871	-0.3846	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	737	Q9HC78	ZBT20_HUMAN	Y	664;664;664;664;737;664;664	ENSP00000420324:H664Y;ENSP00000377375:H664Y;ENSP00000418092:H664Y;ENSP00000419902:H664Y;ENSP00000419153:H737Y;ENSP00000349803:H664Y;ENSP00000417307:H664Y	ENSP00000349803:H664Y	H	-	1	0	ZBTB20	115540559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.549000	0.98106	2.941000	0.99782	0.655000	0.94253	CAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	protein_coding	OTTHUMT00000354951.1	G	NM_015642	-		114057869	-1	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	SNP	1.000	A	A	114057869	G	A	114057869	3	1	245	1	0	0	0	0	1	0	0	0	17536	1319	46	2	20	2	ZBTB20	3	114057869	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09		114057869	83964561	10	19670											
ZNF330	27309	genome.wustl.edu	37	chr4	142153779	142153779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaactcaggagactaAggaccttagcatgtcaagta	10	8	2	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr4:142153779A>G	ENST00000262990.4	+	9	899	c.671A>G	c.(670-672)aAg>aGg	p.K224R	ZNF330_ENST00000421169.2_Missense_Mutation_p.K164R	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	224						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGGAGACTAAGGACCTTAGC	0.358																																																	0								ENSG00000109445						83	78	79					4																	142153779		2203	4300	6503	ZNF330	SO:0001583	missense	0			-	HGNC	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.671A>G	4.37:g.142153779A>G	ENSP00000262990:p.Lys224Arg	Somatic	0	77	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	53	48.04	B2RDA3	Missense_Mutation	SNP							pfam_NOA36	p.K224R	ENST00000262990.4	37	c.671	CCDS3754.1	4	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596708	0.86953	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000421169	T;T;T	0.39406	1.08;1.08;1.08	5.42	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.69248	2.105	0.58432	D	0.999999	B;B	0.09022	0.001;0.002	B;B	0.12837	0.003;0.008	T	0.33650	-0.9860	10	0.62326	D	0.03	-16.1433	10.9631	0.47397	0.9273:0.0:0.0727:0.0	.	164;224	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	R	224;224;164	ENSP00000262990:K224R;ENSP00000422599:K224R;ENSP00000397397:K164R	ENSP00000262990:K224R	K	+	2	0	ZNF330	142373229	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.324000	0.96373	0.909000	0.36697	0.528000	0.53228	AAG	-	pfam_NOA36		0.358	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF330	protein_coding	OTTHUMT00000257271.2	A	NM_014487	-		142153779	1	no_errors	ENST00000262990	ensembl	human	known	74_37	missense	SNP	1.000	G	G	142153779	A	G	142153779	3	3	245	1	0	0	0	0	1	0	0	0	17855	72	3	5	701	5	ZNF330	4	142153779	Missense_Mutation	SNP	A	TCGA-Z4-AAPG-01A-11D-A38Z-09		142153779	49000497	11	19671											
SMARCA5	8467	genome.wustl.edu	37	chr4	144449085	144449085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtaacatcttatgaaaTgcttattaaagagaagtctg	8	4	2	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr4:144449085T>C	ENST00000283131.3	+	7	1328	c.866T>C	c.(865-867)aTg>aCg	p.M289T		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	289	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TCTTATGAAATGCTTATTAAA	0.318																																																	0								ENSG00000153147						106	107	107					4																	144449085		2203	4299	6502	SMARCA5	SO:0001583	missense	0			-	HGNC	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.866T>C	4.37:g.144449085T>C	ENSP00000283131:p.Met289Thr	Somatic	0	88	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	71	46.62		Missense_Mutation	SNP							pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M289T	ENST00000283131.3	37	c.866	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393303	0.83011	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.92397	-3.03	5.85	5.85	0.93711	DEAD-like helicase (2);SNF2-related (1);	0.045751	0.85682	D	0.000000	D	0.86806	0.6021	N	0.13371	0.34	0.80722	D	1	B	0.18968	0.032	B	0.26310	0.068	D	0.83456	0.0051	10	0.87932	D	0	2.0E-4	16.2473	0.82450	0.0:0.0:0.0:1.0	.	289	O60264	SMCA5_HUMAN	T	289;232;232	ENSP00000283131:M289T	ENSP00000283131:M289T	M	+	2	0	SMARCA5	144668535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.945000	0.87732	2.238000	0.73509	0.533000	0.62120	ATG	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.318	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	protein_coding	OTTHUMT00000365077.3	T		-		144449085	1	no_errors	ENST00000283131	ensembl	human	known	74_37	missense	SNP	1.000	C	C	144449085	T	C	144449085	3	2	245	1	0	0	0	0	1	0	0	0	14779	1464	51	5	892	5	SMARCA5	4	144449085	Missense_Mutation	SNP	T	TCGA-Z4-AAPG-01A-11D-A38Z-09	2295306	144449085	46705191	12	19672											
MIER3	166968	genome.wustl.edu	37	chr5	56219632	56219632	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccacccaaagcttctgTttcatctactaaacgatcca	4	15	3	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr5:56219632T>A	ENST00000381199.3	-	12	1091	c.1081A>T	c.(1081-1083)Aca>Tca	p.T361S	SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381226.3_Missense_Mutation_p.T366S|MIER3_ENST00000381213.3_Missense_Mutation_p.T360S|MIER3_ENST00000409421.1_Missense_Mutation_p.T298S			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)		AAAGCTTCTGTTTCATCTACT	0.413																																																	0								ENSG00000155545						151	147	149					5																	56219632		2203	4300	6503	MIER3	SO:0001583	missense	0			-	HGNC	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.1081A>T	5.37:g.56219632T>A	ENSP00000370596:p.Thr361Ser	Somatic	0	71	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	52	38.10	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP							pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.T361S	ENST00000381199.3	37	c.1081		5	.	.	.	.	.	.	.	.	.	.	T	9.413	1.080928	0.20309	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.98	4.83	0.62350	.	0.158788	0.56097	D	0.000035	T	0.13372	0.0324	N	0.17474	0.49	0.36221	D	0.852029	B;B;B	0.21606	0.043;0.016;0.058	B;B;B	0.20577	0.025;0.022;0.03	T	0.20538	-1.0272	10	0.02654	T	1	-19.0449	4.8589	0.13573	0.0:0.2519:0.0:0.7481	.	361;366;360	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	S	366;360;361;298	ENSP00000370624:T366S;ENSP00000370611:T360S;ENSP00000370596:T361S;ENSP00000386584:T298S	ENSP00000370596:T361S	T	-	1	0	MIER3	56255389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.658000	0.54482	2.289000	0.77006	0.460000	0.39030	ACA	-	NULL		0.413	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	protein_coding	OTTHUMT00000132523.2	T	NM_152622	-		56219632	-1	no_errors	ENST00000381199	ensembl	human	known	74_37	missense	SNP	1.000	A	A	56219632	T	A	56219632	3	1	245	1	0	0	0	0	1	0	0	0	9584	1725	60	5	579	5	MIER3	5	56219632	Missense_Mutation	SNP	T	TCGA-Z4-AAPG-01A-11D-A38Z-09		56219632	124695628	13	19673											
NUDT12	83594	genome.wustl.edu	37	chr5	102891772	102891772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcgactgtgccaggcaAgaacagatcttgcttgagct	11	9	1	3			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr5:102891772A>C	ENST00000230792.2	-	4	920	c.824T>G	c.(823-825)cTt>cGt	p.L275R	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.L257R	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	275					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGCCAGGCAAGAACAGATCT	0.328																																																	0								ENSG00000112874						92	87	89					5																	102891772		2202	4300	6502	NUDT12	SO:0001583	missense	0			-	HGNC	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.824T>G	5.37:g.102891772A>C	ENSP00000230792:p.Leu275Arg	Somatic	0	33	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	15	58.33	B3KUW2|Q8TAL7	Missense_Mutation	SNP							pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L275R	ENST00000230792.2	37	c.824	CCDS4096.1	5	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497870	0.85069	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.39406	1.08;1.08	5.25	5.25	0.73442	NUDIX hydrolase domain (1);NADH pyrophosphatase-like, N-terminal (1);NUDIX hydrolase domain-like (1);	0.186293	0.48286	D	0.000197	T	0.57519	0.2059	L	0.59436	1.845	0.53688	D	0.999972	P;P	0.51147	0.942;0.872	P;P	0.59171	0.798;0.853	T	0.60622	-0.7227	10	0.66056	D	0.02	-17.2548	15.4155	0.74962	1.0:0.0:0.0:0.0	.	257;275	E7EM93;Q9BQG2	.;NUD12_HUMAN	R	275;257	ENSP00000230792:L275R;ENSP00000424521:L257R	ENSP00000230792:L275R	L	-	2	0	NUDT12	102919671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.753000	0.91637	2.095000	0.63458	0.528000	0.53228	CTT	-	pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like		0.328	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	protein_coding	OTTHUMT00000250650.1	A	NM_031438	-		102891772	-1	no_errors	ENST00000230792	ensembl	human	known	74_37	missense	SNP	1.000	C	C	102891772	A	C	102891772	3	2	245	1	0	0	0	0	1	0	0	0	10730	72	3	5	580	5	NUDT12	5	102891772	Missense_Mutation	SNP	A	TCGA-Z4-AAPG-01A-11D-A38Z-09	46672140	102891772	78023488	14	19674											
PPP2R2B	5521	genome.wustl.edu	37	chr5	146080608	146080608	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcattcaccaccacttacCtcctgctctcgttgaaatat	4	14	2	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr5:146080608C>T	ENST00000394413.3	-	2	738	c.168G>A	c.(166-168)gaG>gaA	p.E56E	PPP2R2B_ENST00000394409.3_Splice_Site_p.E114E|PPP2R2B_ENST00000394414.1_Splice_Site_p.E122E|PPP2R2B_ENST00000508545.2_Splice_Site_p.E45E|PPP2R2B_ENST00000356826.3_Splice_Site_p.E56E|PPP2R2B_ENST00000504198.1_Splice_Site_p.E62E|PPP2R2B_ENST00000394411.4_Splice_Site_p.E56E|PPP2R2B_ENST00000336640.6_Splice_Site_p.E59E|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Splice_Site_p.E45E|PPP2R2B_ENST00000453001.1_Splice_Site_p.E56E			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	56					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)			CACCACTTACCTCCTGCTCTC	0.463																																																	0								ENSG00000156475						290	298	296					5																	146080608		2203	4300	6503	PPP2R2B	SO:0001630	splice_region_variant	0			-	HGNC	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.168+1G>A	5.37:g.146080608C>T		Somatic	0	59	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP							pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.E122	ENST00000394413.3	37	c.366	CCDS4284.1	5																																																																																			-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.463	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	protein_coding	OTTHUMT00000251893.2	C	NM_181678	-	Silent	146080608	-1	no_errors	ENST00000394414	ensembl	human	known	74_37	silent	SNP	1.000	T	T	146080608	C	T	146080608	5	4	245	1	0	0	0	0	0	0	1	0	12390	695	24	2	1195	2	PPP2R2B	5	146080608	Splice_Site	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	43188836	146080608	34834652	15	19675											
C6orf89	221477	genome.wustl.edu	37	chr6	36891153	36891153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacccactggaaggtctAcgttatagccagaggggtcc	11	13	1	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr6:36891153A>G	ENST00000480824.2	+	9	1274	c.980A>G	c.(979-981)tAc>tGc	p.Y327C	C6orf89_ENST00000359359.2_Missense_Mutation_p.Y221C|C6orf89_ENST00000355190.3_Missense_Mutation_p.Y334C|C6orf89_ENST00000510325.2_Missense_Mutation_p.Y221C|C6orf89_ENST00000373685.1_Missense_Mutation_p.Y327C			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	327				Y -> C (in Ref. 4; CAD98021). {ECO:0000305}.	epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGGAAGGTCTACGTTATAGCC	0.532																																																	0								ENSG00000198663						91	74	80					6																	36891153		2203	4300	6503	C6orf89	SO:0001583	missense	0			-	HGNC	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.980A>G	6.37:g.36891153A>G	ENSP00000475947:p.Tyr327Cys	Somatic	0	42	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	7	77.42	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP							NULL	p.Y334C	ENST00000480824.2	37	c.1001		6	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606560	0.46527	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.56	3.24	0.37175	.	0.388937	0.30492	N	0.009510	T	0.37320	0.0999	L	0.57536	1.79	0.30520	N	0.768473	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.10636	-1.0621	9	0.36615	T	0.2	7.515	6.7696	0.23587	0.8424:0.0:0.1576:0.0	.	327;334	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	C	221;221;334;327	.	ENSP00000347322:Y334C	Y	+	2	0	C6orf89	36999131	0.995000	0.38212	0.989000	0.46669	0.560000	0.35617	2.163000	0.42377	2.128000	0.65567	0.459000	0.35465	TAC	-	NULL		0.532	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	protein_coding	OTTHUMT00000040387.2	A	NM_152734	-		36891153	1	no_errors	ENST00000355190	ensembl	human	known	74_37	missense	SNP	0.860	G	G	36891153	A	G	36891153	3	3	245	1	0	0	0	0	1	0	0	0	2375	391	14	5	1031	5	C6orf89	6	36891153	Missense_Mutation	SNP	A	TCGA-Z4-AAPG-01A-11D-A38Z-09		36891153	134223914	16	19676											
T	6862	genome.wustl.edu	37	chr6	166571913	166571913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcggccgccccttcgtacaGtggggatcccgaggaagagg	16	13	0	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr6:166571913G>T	ENST00000296946.2	-	9	1666	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	T_ENST00000366871.3_Missense_Mutation_p.L342M	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	400					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCTTCGTACAGTGGGGATCCC	0.692									Chordoma, Familial Clustering of																																								0								ENSG00000164458						58	67	64					6																	166571913		2203	4298	6501	T	SO:0001583	missense	0	Familial Cancer Database		-	HGNC	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1198C>A	6.37:g.166571913G>T	ENSP00000296946:p.Leu400Met	Somatic	0	72	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	16	73.33	E7ERD6|Q4KMP4	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box	p.L400M	ENST00000296946.2	37	c.1198	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	G	4.894	0.166192	0.09339	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83250	-1.7;-1.68	4.92	3.06	0.35304	.	0.476235	0.17838	N	0.160310	T	0.53286	0.1787	L	0.41027	1.25	0.21604	N	0.999626	B;B;B	0.19817	0.039;0.005;0.002	B;B;B	0.19148	0.024;0.006;0.008	T	0.40496	-0.9560	10	0.23302	T	0.38	.	5.357	0.16067	0.1686:0.0:0.6629:0.1685	.	342;400;342	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	M	400;400;342	ENSP00000296946:L400M;ENSP00000355836:L342M	ENSP00000296946:L400M	L	-	1	2	T	166491903	0.477000	0.25909	0.579000	0.28588	0.104000	0.19210	0.729000	0.26028	0.521000	0.28445	0.655000	0.94253	CTG	-	NULL		0.692	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	protein_coding	OTTHUMT00000043037.2	G	NM_003181	-		166571913	-1	no_errors	ENST00000296946	ensembl	human	known	74_37	missense	SNP	0.030	T	T	166571913	G	T	166571913	3	4	245	1	0	0	0	0	1	0	0	0	15495	1020	36	3	113	3	T	6	166571913	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	129680760	166571913	4543154	17	19677											
DNAH11	8701	genome.wustl.edu	37	chr7	21603913	21603913	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcatattaatcgctccattAtttcataccatctgtctgat	4	11	3	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr7:21603913A>G	ENST00000409508.3	+	6	1123	c.1092A>G	c.(1090-1092)ttA>ttG	p.L364L	DNAH11_ENST00000328843.6_Silent_p.L364L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	364	Stem. {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						TCGCTCCATTATTTCATACCA	0.428									Kartagener syndrome																																								0								ENSG00000105877						120	110	114					7																	21603913		1833	4078	5911	DNAH11	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.1092A>G	7.37:g.21603913A>G		Somatic	0	55	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	76	15.56	Q9UJ82	Silent	SNP							pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L364	ENST00000409508.3	37	c.1092		7																																																																																			-	pfam_Dynein_heavy_dom-1		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	A	NM_003777	-		21603913	1	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	SNP	0.925	G	G	21603913	A	G	21603913	2	3	245	1	0	0	0	0	0	0	0	1	4601	446	16	5		5	DNAH11	7	21603913	Silent	SNP	A	TCGA-Z4-AAPG-01A-11D-A38Z-09		21603913	137534750	18	19678											
ZNF800	168850	genome.wustl.edu	37	chr7	127013660	127013660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttgcttcatccctcgaaGggcctctttttgccacttta	7	12	2	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr7:127013660G>A	ENST00000393313.1	-	5	2321	c.1730C>T	c.(1729-1731)cCt>cTt	p.P577L	ZNF800_ENST00000393312.1_Missense_Mutation_p.P577L|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.P577L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	577					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATCCCTCGAAGGGCCTCTTTT	0.363																																																	0								ENSG00000048405						110	111	111					7																	127013660		2203	4299	6502	ZNF800	SO:0001583	missense	0			-	HGNC	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1730C>T	7.37:g.127013660G>A	ENSP00000376989:p.Pro577Leu	Somatic	0	67	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	6	88.46	Q9HBN0	Missense_Mutation	SNP							smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P577L	ENST00000393313.1	37	c.1730	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	8.890	0.953836	0.18431	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14640	2.49;2.49;2.49	5.7	5.7	0.88788	.	0.488362	0.22117	N	0.064387	T	0.08714	0.0216	N	0.08118	0	0.38954	D	0.958406	B;B	0.14805	0.011;0.011	B;B	0.08055	0.003;0.003	T	0.32188	-0.9916	8	.	.	.	-7.7463	18.8226	0.92103	0.0:0.0:1.0:0.0	.	480;577	B7Z4V7;Q2TB10	.;ZN800_HUMAN	L	577	ENSP00000376989:P577L;ENSP00000265827:P577L;ENSP00000376988:P577L	.	P	-	2	0	ZNF800	126800896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.917000	0.63369	2.692000	0.91855	0.655000	0.94253	CCT	-	NULL		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	protein_coding	OTTHUMT00000141823.1	G	NM_176814	-		127013660	-1	no_errors	ENST00000265827	ensembl	human	known	74_37	missense	SNP	1.000	A	A	127013660	G	A	127013660	3	1	245	1	0	0	0	0	1	0	0	0	18176	1000	35	2	272	2	ZNF800	7	127013660	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	105409747	127013660	32125003	19	19679											
ZNF704	619279	genome.wustl.edu	37	chr8	81571895	81571895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgggggtgaacttggcCgatcctggaatggtcacagg	15	9	1	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr8:81571895C>T	ENST00000327835.3	-	7	1188	c.957G>A	c.(955-957)tcG>tcA	p.S319S		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	319							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGAACTTGGCCGATCCTGGAA	0.463																																																	0								ENSG00000164684						147	157	154					8																	81571895		2203	4300	6503	ZNF704	SO:0001819	synonymous_variant	0			-	HGNC	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.957G>A	8.37:g.81571895C>T		Somatic	0	109	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	70	23.08	B2RNE6|B9EGW6	Silent	SNP							pfscan_Znf_C2H2	p.S319	ENST00000327835.3	37	c.957	CCDS34913.1	8																																																																																			-	NULL		0.463	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	protein_coding	OTTHUMT00000379964.2	C	NM_001033723	-		81571895	-1	no_errors	ENST00000327835	ensembl	human	known	74_37	silent	SNP	0.000	T	T	81571895	C	T	81571895	2	4	245	1	0	0	0	0	0	0	0	1	18114	639	23	1		1	ZNF704	8	81571895	Silent	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09		81571895	64792127	20	19680											
TAF1L	138474	genome.wustl.edu	37	chr9	32632655	32632655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttcaccacaccctgtggGatctgccaccccagtcacct	6	19	3	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr9:32632655G>A	ENST00000242310.4	-	1	3012	c.2923C>T	c.(2923-2925)Ccc>Tcc	p.P975S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	975					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CACCCTGTGGGATCTGCCACC	0.498																																																	0								ENSG00000122728						174	161	165					9																	32632655		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2923C>T	9.37:g.32632655G>A	ENSP00000418379:p.Pro975Ser	Somatic	0	75	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	43	38.57	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P975S	ENST00000242310.4	37	c.2923	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863129	0.51482	.	.	ENSG00000122728	ENST00000242310	T	0.47177	0.85	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72846	-0.4169	10	0.87932	D	0	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	975	Q8IZX4	TAF1L_HUMAN	S	975	ENSP00000418379:P975S	ENSP00000418379:P975S	P	-	1	0	TAF1L	32622655	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	6.195000	0.72088	0.507000	0.28148	0.195000	0.17529	CCC	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.498	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32632655	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32632655	G	A	32632655	3	1	245	1	0	0	0	0	1	0	0	0	15530	1174	41	2	2561	2	TAF1L	9	32632655	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09		32632655	108580776	21	19681			1	103		5	5	354	G		3.990717e-15
TAF1L	138474	genome.wustl.edu	37	chr9	32632679	32632679	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccccagtcacctctaGgagacacttgcccttcatgg	8	16	3	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr9:32632679G>C	ENST00000242310.4	-	1	2988	c.2899C>G	c.(2899-2901)Cta>Gta	p.L967V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	967					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCACCTCTAGGAGACACTTG	0.478																																																	0								ENSG00000122728						151	141	144					9																	32632679		2203	4300	6503	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2899C>G	9.37:g.32632679G>C	ENSP00000418379:p.Leu967Val	Somatic	0	78	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	37	40.32	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L967V	ENST00000242310.4	37	c.2899	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624622	0.28889	.	.	ENSG00000122728	ENST00000242310	T	0.23147	1.92	1.04	-0.377	0.12501	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.071833	0.56097	D	0.000027	T	0.45776	0.1359	M	0.85710	2.77	0.49213	D	0.999766	D	0.89917	1.0	D	0.91635	0.999	T	0.33214	-0.9877	10	0.87932	D	0	.	4.1421	0.10198	0.5197:0.0:0.4803:0.0	.	967	Q8IZX4	TAF1L_HUMAN	V	967	ENSP00000418379:L967V	ENSP00000418379:L967V	L	-	1	2	TAF1L	32622679	1.000000	0.71417	0.969000	0.41365	0.842000	0.47809	1.905000	0.39878	-0.347000	0.08299	0.195000	0.17529	CTA	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32632679	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	0.999	C	C	32632679	G	C	32632679	3	2	245	1	0	0	0	0	1	0	0	0	15530	991	35	4	2585	4	TAF1L	9	32632679	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	24	32632679	108580752	22	19682			1	103		5	5	354	G		3.990717e-15
TAF1L	138474	genome.wustl.edu	37	chr9	32632965	32632965	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatccatccctgtgcgtttGaagtcagcgcagagctttag	11	10	1	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr9:32632965G>A	ENST00000242310.4	-	1	2702	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	871					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGTGCGTTTGAAGTCAGCGC	0.473																																																	0								ENSG00000122728						143	144	144					9																	32632965		2203	4300	6503	TAF1L	SO:0001819	synonymous_variant	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2613C>T	9.37:g.32632965G>A		Somatic	0	61	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	61	29.07	Q0VG57	Silent	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.F871	ENST00000242310.4	37	c.2613	CCDS35003.1	9																																																																																			-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32632965	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	SNP	1.000	A	A	32632965	G	A	32632965	2	1	245	1	0	0	0	0	0	0	0	1	15530	1281	45	2		2	TAF1L	9	32632965	Silent	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	286	32632965	108580466	23	19683			1	103		5	5	354	G		3.990717e-15
TAF1L	138474	genome.wustl.edu	37	chr9	32632977	32632977	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgcgtttgaagtcagcgcaGagctttagcctcttccggat	12	10	2	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr9:32632977G>C	ENST00000242310.4	-	1	2690	c.2601C>G	c.(2599-2601)ctC>ctG	p.L867L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	867					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTCAGCGCAGAGCTTTAGCC	0.463																																																	0								ENSG00000122728						133	136	135					9																	32632977		2203	4300	6503	TAF1L	SO:0001819	synonymous_variant	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2601C>G	9.37:g.32632977G>C		Somatic	0	59	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	57	32.94	Q0VG57	Silent	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L867	ENST00000242310.4	37	c.2601	CCDS35003.1	9																																																																																			-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32632977	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	SNP	1.000	C	C	32632977	G	C	32632977	2	2	245	1	0	0	0	0	0	0	0	1	15530	929	33	4		4	TAF1L	9	32632977	Silent	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	12	32632977	108580454	24	19684			1	103		5	5	354	G		3.990717e-15
TAF1L	138474	genome.wustl.edu	37	chr9	32633008	32633008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttccggatgctgctttctGaatgggaaggaaaggctttt	12	7	2	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr9:32633008G>A	ENST00000242310.4	-	1	2659	c.2570C>T	c.(2569-2571)tCa>tTa	p.S857L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	857					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTGCTTTCTGAATGGGAAGG	0.443																																																	0								ENSG00000122728						115	121	119					9																	32633008		2203	4297	6500	TAF1L	SO:0001583	missense	0			-	HGNC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2570C>T	9.37:g.32633008G>A	ENSP00000418379:p.Ser857Leu	Somatic	0	68	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	72	30.10	Q0VG57	Missense_Mutation	SNP							pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S857L	ENST00000242310.4	37	c.2570	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170518	0.57584	.	.	ENSG00000122728	ENST00000242310	T	0.14766	2.48	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.90252	3.1	0.53688	D	0.999978	D	0.89917	1.0	D	0.81914	0.995	T	0.29549	-1.0008	10	0.87932	D	0	.	7.8312	0.29344	0.0:0.0:1.0:0.0	.	857	Q8IZX4	TAF1L_HUMAN	L	857	ENSP00000418379:S857L	ENSP00000418379:S857L	S	-	2	0	TAF1L	32623008	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	6.137000	0.71710	0.632000	0.30432	0.195000	0.17529	TCA	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G		-		32633008	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	SNP	1.000	A	A	32633008	G	A	32633008	3	1	245	1	0	0	0	0	1	0	0	0	15530	1294	45	2	2914	2	TAF1L	9	32633008	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	31	32633008	108580423	25	19685			1	103		5	5	354	G		3.990717e-15
RTKN2	219790	genome.wustl.edu	37	chr10	64022582	64022583	+	Splice_Site	INS	-	-	A													ttcttgaatgttgcagtcctINSaaaaaaaaaatgcatcttga					rs149410563		TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr10:64022582_64022583insA	ENST00000373789.3	-	2	157		c.e2-2		RTKN2_ENST00000395260.3_Splice_Site|RTKN2_ENST00000395265.1_Splice_Site	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2						hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTGCAGTCCTAAAAAAAAAAT	0.302																																																	0								ENSG00000182010																																			RTKN2	SO:0001630	splice_region_variant	0				HGNC	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.61-2->T	10.37:g.64022592_64022592dupA		Somatic	0	30	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Splice_Site	INS							-	e2-2	ENST00000373789.3	37	c.61-3_61-2	CCDS7263.1	10																																																																																			-	-		0.302	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	protein_coding	OTTHUMT00000091618.1	-	NM_145307		Intron	64022583	-1	no_errors	ENST00000373789	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.881	A	A	64022583	-	A	64022582	8	5	245	1	0	1	1	0	0	0	1	0	13731	1536	53	0	1814	0	RTKN2	10	64022582	Splice_Site	INS	-	TCGA-Z4-AAPG-01A-11D-A38Z-09		64022582	71512165	26	19686											
IDE	3416	genome.wustl.edu	37	chr10	94228696	94228696	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaaggagaggtttggtatGagcatgttcaatgagggtgt	17	2	1	3			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr10:94228696G>T	ENST00000265986.6	-	19	2316	c.2260C>A	c.(2260-2262)Cat>Aat	p.H754N	IDE_ENST00000371581.5_Missense_Mutation_p.H199N|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	754					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	GGTTTGGTATGAGCATGTTCA	0.398																																																	0								ENSG00000119912						123	112	115					10																	94228696		2203	4300	6503	IDE	SO:0001583	missense	0			-	HGNC	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2260C>A	10.37:g.94228696G>T	ENSP00000265986:p.His754Asn	Somatic	0	75	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	6	87.23	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP							pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.H754N	ENST00000265986.6	37	c.2260	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	5.180	0.218772	0.09810	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.07800	3.16;3.16	5.6	4.7	0.59300	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.01789	-0.72	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.17433	0.001;0.018	T	0.42982	-0.9419	10	0.12103	T	0.63	-9.5745	14.1886	0.65623	0.0725:0.0:0.9275:0.0	.	754;199	P14735;B3KSB8	IDE_HUMAN;.	N	754;199	ENSP00000265986:H754N;ENSP00000360637:H199N	ENSP00000265986:H754N	H	-	1	0	IDE	94218676	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	9.134000	0.94467	1.373000	0.46208	-0.140000	0.14226	CAT	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	protein_coding	OTTHUMT00000049393.1	G	NM_004969	-		94228696	-1	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	SNP	1.000	T	T	94228696	G	T	94228696	3	4	245	1	0	0	0	0	1	0	0	0	7495	1290	45	3	827	3	IDE	10	94228696	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	30206114	94228696	41306051	27	19687											
TMEM20	159371	genome.wustl.edu	37	chr10	95660526	95660526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaactgggtttataggccCaaaaggtcaacgaattttcc	9	9	1	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr10:95660526C>A	ENST00000427197.1	+	3	438	c.377C>A	c.(376-378)cCa>cAa	p.P126Q	SLC35G1_ENST00000371408.3_Missense_Mutation_p.P125Q	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	126	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTTATAGGCCCAAAAGGTCAA	0.328																																																	0								ENSG00000176273						86	84	85					10																	95660526		2203	4299	6502	SLC35G1	SO:0001583	missense	0			-	HGNC	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"Solute carriers"	26607	protein-coding gene	gene with protein product			"transmembrane protein 20"	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.377C>A	10.37:g.95660526C>A	ENSP00000400932:p.Pro126Gln	Somatic	0	36	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q86YG5|Q8NBA5	Missense_Mutation	SNP							pfam_DMT	p.P126Q	ENST00000427197.1	37	c.377	CCDS44459.1	10	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837761	0.71373	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.53423	0.62;0.62	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.85373	2.75	0.80722	D	1	D;P;B	0.58970	0.984;0.883;0.39	P;P;B	0.57244	0.816;0.625;0.176	T	0.69960	-0.5003	10	0.42905	T	0.14	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	109;126;125	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	Q	125;126	ENSP00000360462:P125Q;ENSP00000400932:P126Q	ENSP00000360462:P125Q	P	+	2	0	SLC35G1	95650516	1.000000	0.71417	0.977000	0.42913	0.628000	0.37860	7.457000	0.80775	2.821000	0.97095	0.650000	0.86243	CCA	-	pfam_DMT		0.328	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35G1	protein_coding		C	NM_153226	-		95660526	1	no_errors	ENST00000427197	ensembl	human	known	74_37	missense	SNP	1.000	A	A	95660526	C	A	95660526	3	1	245	1	0	0	0	0	1	0	0	0	16129	594	21	3	387	3	TMEM20	10	95660526	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	1431830	95660526	39874221	28	19688											
TACC2	10579	genome.wustl.edu	37	chr10	123954634	123954634	+	Frame_Shift_Del	DEL	C	C	-													cgccagctccacccccaccaCcccccgaagtcatcccagaa							TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr10:123954634delC	ENST00000369005.1	+	8	6254	c.5914delC	c.(5914-5916)cccfs	p.P1973fs	TACC2_ENST00000515273.1_Frame_Shift_Del_p.P1977fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.P51fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.P51fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000513429.1_Frame_Shift_Del_p.P119fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P1928fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.P119fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P1977fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Frame_Shift_Del_p.P51fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.P51fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P1973fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1973	Pro-rich.				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)				ACCCCCACCACCCCCCGAAGT	0.612																																																	0								ENSG00000138162						61	66	64					10																	123954634		2203	4300	6503	TACC2	SO:0001589	frameshift_variant	0				HGNC	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.5914delC	10.37:g.123954634delC	ENSP00000358001:p.Pro1973fs	Somatic	0	42	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL							pfam_TACC	p.E1974fs	ENST00000369005.1	37	c.5914	CCDS7626.1	10																																																																																			-	NULL		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	C				123954634	1	no_errors	ENST00000334433	ensembl	human	known	74_37	frame_shift_del	DEL	0.994	-	-	123954634	C	-	123954634	7	5	245	1	0	1	0	1	0	0	0	0	15509	507	18	0	6012	0	TACC2	10	123954634	Frame_Shift_Del	DEL	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	28294108	123954634	11580113	29	19689											
ANO5	203859	genome.wustl.edu	37	chr11	22242681	22242681	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaaagattctatcttcttCcgagatgggattaggcaaat	9	7	3	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr11:22242681C>T	ENST00000324559.8	+	5	536	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	73					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCTTCTTCCGAGATGGGA	0.358																																																	0								ENSG00000171714						94	92	93					11																	22242681		2203	4300	6503	ANO5	SO:0001819	synonymous_variant	0			-	HGNC	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.219C>T	11.37:g.22242681C>T		Somatic	0	60	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	8	73.33		Silent	SNP							pfam_Anoctamin	p.F73	ENST00000324559.8	37	c.219	CCDS31444.1	11																																																																																			-	NULL		0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	protein_coding	OTTHUMT00000387615.1	C	NM_213599	-		22242681	1	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	SNP	0.994	T	T	22242681	C	T	22242681	2	4	245	1	0	0	0	0	0	0	0	1	700	854	30	2		2	ANO5	11	22242681	Silent	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09		22242681	112763835	30	19690											
EFEMP2	30008	genome.wustl.edu	37	chr11	65637630	65637630	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taggccccagctggaagcccGgctcgcactggcagcggaag	15	14	0	0	rs562466098		TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr11:65637630G>C	ENST00000307998.6	-	6	799	c.569C>G	c.(568-570)cCg>cGg	p.P190R	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.P190R	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	190	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTGGAAGCCCGGCTCGCACTG	0.667																																																	0								ENSG00000172638						38	42	41					11																	65637630		2201	4294	6495	EFEMP2	SO:0001583	missense	0			-	HGNC	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.569C>G	11.37:g.65637630G>C	ENSP00000309953:p.Pro190Arg	Somatic	0	55	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	12	70.73	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP							pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.P190R	ENST00000307998.6	37	c.569	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388166	0.82902	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624	D;D;D	0.95307	-3.67;-3.67;-2.94	5.14	5.14	0.70334	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.50627	D	0.000116	D	0.95815	0.8638	L	0.50919	1.6	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.933;0.996	D	0.94012	0.7285	10	0.22109	T	0.4	.	16.4548	0.84008	0.0:0.0:1.0:0.0	.	190;190	E9PRU1;O95967	.;FBLN4_HUMAN	R	190	ENSP00000434151:P190R;ENSP00000309953:P190R;ENSP00000435419:P190R	ENSP00000309953:P190R	P	-	2	0	EFEMP2	65394206	1.000000	0.71417	0.952000	0.39060	0.995000	0.86356	6.321000	0.72881	2.556000	0.86216	0.561000	0.74099	CCG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.667	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	protein_coding	OTTHUMT00000391047.4	G	NM_016938	-		65637630	-1	no_errors	ENST00000307998	ensembl	human	known	74_37	missense	SNP	0.997	C	C	65637630	G	C	65637630	3	2	245	1	0	0	0	0	1	0	0	0	4944	1116	39	4	786	4	EFEMP2	11	65637630	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	43394949	65637630	69368886	31	19691											
VWF	7450	genome.wustl.edu	37	chr12	6078426	6078426	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttacagctcagctgaaaGcccgaggggcagacagggac	14	11	2	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr12:6078426G>T	ENST00000261405.5	-	45	7934	c.7680C>A	c.(7678-7680)ggC>ggA	p.G2560G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2560					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGCTGAAAGCCCGAGGGGC	0.597																																																	0								ENSG00000110799						37	36	36					12																	6078426		2203	4300	6503	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7680C>A	12.37:g.6078426G>T		Somatic	0	47	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	28	60.00	Q8TCE8|Q99806	Silent	SNP							pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.G2560	ENST00000261405.5	37	c.7680	CCDS8539.1	12																																																																																			-	pirsf_VWF		0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	G	NM_000552	-		6078426	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	1.000	T	T	6078426	G	T	6078426	2	4	245	1	0	0	0	0	0	0	0	1	17253	958	34	3		3	VWF	12	6078426	Silent	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09		6078426	127773469	32	19692											
MANSC1	54682	genome.wustl.edu	37	chr12	12483640	12483640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcagaggaaaattgtgaaCtctgagaatggcctttttcc	10	7	2	3			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr12:12483640C>A	ENST00000535902.1	-	4	1180	c.617G>T	c.(616-618)aGt>aTt	p.S206I	MANSC1_ENST00000396349.3_Missense_Mutation_p.S172I|MANSC1_ENST00000545735.1_Missense_Mutation_p.S125I			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	206						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AAATTGTGAACTCTGAGAATG	0.458																																																	0								ENSG00000111261						88	92	90					12																	12483640		2203	4300	6503	MANSC1	SO:0001583	missense	0			-	HGNC	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.617G>T	12.37:g.12483640C>A	ENSP00000438205:p.Ser206Ile	Somatic	0	69	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	79	18.56	Q8NEC1|Q9NW60	Missense_Mutation	SNP							pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.S206I	ENST00000535902.1	37	c.617	CCDS8648.1	12	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666200	0.47677	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.33865	1.75;1.73;1.39	4.81	-3.12	0.05282	.	0.902423	0.09310	N	0.819708	T	0.24586	0.0596	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46512	0.718;0.718;0.879	B;B;P	0.44394	0.216;0.216;0.448	T	0.15549	-1.0433	10	0.72032	D	0.01	-4.1678	5.0812	0.14656	0.0:0.2994:0.2725:0.4282	.	140;172;206	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	I	206;172;125;125	ENSP00000438205:S206I;ENSP00000379638:S172I;ENSP00000445303:S125I	ENSP00000347765:S125I	S	-	2	0	MANSC1	12374907	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.419000	0.07071	-1.194000	0.02684	0.491000	0.48974	AGT	-	NULL		0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANSC1	protein_coding	OTTHUMT00000400144.1	C	NM_018050	-		12483640	-1	no_errors	ENST00000535902	ensembl	human	known	74_37	missense	SNP	0.000	A	A	12483640	C	A	12483640	3	1	245	1	0	0	0	0	1	0	0	0	9226	565	20	3	682	3	MANSC1	12	12483640	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	6405214	12483640	121368255	33	19693											
CORO1C	23603	genome.wustl.edu	37	chr12	109095036	109095036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcatagcactggtcaTttttcaccgcttgcccaaat	6	12	4	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr12:109095036T>C	ENST00000261401.3	-	2	231	c.59A>G	c.(58-60)aAt>aGt	p.N20S	CORO1C_ENST00000420959.2_Missense_Mutation_p.N73S|CORO1C_ENST00000549772.1_Missense_Mutation_p.N26S|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.N20S	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	20					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCACTGGTCATTTTTCACCGC	0.453																																																	0								ENSG00000110880						169	137	148					12																	109095036		2203	4300	6503	CORO1C	SO:0001583	missense	0			-	HGNC	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"Coronins", "WD repeat domain containing"	2254	protein-coding gene	gene with protein product		605269	"coronin, actin-binding protein, 1C"			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.59A>G	12.37:g.109095036T>C	ENSP00000261401:p.Asn20Ser	Somatic	0	46	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	17	61.36	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP							pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N73S	ENST00000261401.3	37	c.218	CCDS9120.1	12	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703313	0.68501	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000549772;ENST00000420959;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571;ENST00000551044	T;T;T;T;T;T;T;T;T	0.75938	0.06;0.06;0.12;-0.0;-0.29;0.09;-0.49;-0.64;-0.98	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	N	0.20986	0.625	0.80722	D	1	B;B;B	0.26635	0.051;0.155;0.011	B;B;B	0.28305	0.088;0.038;0.038	T	0.61501	-0.7050	10	0.38643	T	0.18	-6.1773	15.2847	0.73819	0.0:0.0:0.0:1.0	.	20;73;20	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	S	20;20;26;73;20;20;20;20;20	ENSP00000261401:N20S;ENSP00000438341:N20S;ENSP00000447534:N26S;ENSP00000394496:N73S;ENSP00000449330:N20S;ENSP00000447989:N20S;ENSP00000448527:N20S;ENSP00000448195:N20S;ENSP00000447049:N20S	ENSP00000261401:N20S	N	-	2	0	CORO1C	107619165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.652000	0.83633	2.003000	0.58678	0.397000	0.26171	AAT	-	pfam_DUF1899		0.453	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1C	protein_coding	OTTHUMT00000403802.1	T	NM_014325	-		109095036	-1	no_errors	ENST00000420959	ensembl	human	known	74_37	missense	SNP	1.000	C	C	109095036	T	C	109095036	3	2	245	1	0	0	0	0	1	0	0	0	3757	1493	52	5	1405	5	CORO1C	12	109095036	Missense_Mutation	SNP	T	TCGA-Z4-AAPG-01A-11D-A38Z-09	96611396	109095036	24756859	34	19694											
CCDC63	160762	genome.wustl.edu	37	chr12	111311658	111311659	+	Frame_Shift_Ins	INS	-	-	A													ttttcagattcttcagatggINSaaaaaaaaatcgcaaaccaa							TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr12:111311658_111311659insA	ENST00000308208.5	+	5	624_625	c.382_383insA	c.(382-384)gaafs	p.E128fs	CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.E88fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.E49fs|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTTCAGATGGAAAAAAAAATC	0.416																																																	0								ENSG00000173093																																			CCDC63	SO:0001589	frameshift_variant	0				HGNC	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.391dupA	12.37:g.111311667_111311667dupA	ENSP00000312399:p.Glu128fs	Somatic	0	55	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	B4DY03|Q0P603|Q6P2E1	Frame_Shift_Ins	INS							NULL	p.I131fs	ENST00000308208.5	37	c.382_383	CCDS9151.1	12																																																																																			-	NULL		0.416	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	protein_coding	OTTHUMT00000404673.2	-	NM_152591			111311659	1	no_errors	ENST00000308208	ensembl	human	known	74_37	frame_shift_ins	INS	0.975:0.872	A	A	111311659	-	A	111311658	7	5	245	1	0	1	1	0	0	0	0	0	2836	1175	41	0	396	0	CCDC63	12	111311658	Frame_Shift_Ins	INS	-	TCGA-Z4-AAPG-01A-11D-A38Z-09	2216622	111311658	22540237	35	19695											
TBX5	6910	genome.wustl.edu	37	chr12	114793374	114793374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actctggcaccatgccaactCcgtgcacagagtggtactga	10	13	1	2			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr12:114793374C>A	ENST00000310346.4	-	9	2186	c.1520G>T	c.(1519-1521)gGa>gTa	p.G507V	TBX5_ENST00000349716.5_Missense_Mutation_p.G457V|TBX5_ENST00000405440.2_Missense_Mutation_p.G507V	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	507				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATGCCAACTCCGTGCACAGA	0.542																																					NSCLC(152;1358 1980 4050 23898 40356)												0								ENSG00000089225						52	50	51					12																	114793374		2203	4300	6503	TBX5	SO:0001583	missense	0			-	HGNC	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1520G>T	12.37:g.114793374C>A	ENSP00000309913:p.Gly507Val	Somatic	0	34	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP							pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.G507V	ENST00000310346.4	37	c.1520	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150000	0.57151	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.88664	-2.36;-2.41;-2.41	5.42	5.42	0.78866	.	0.205916	0.50627	D	0.000111	D	0.88833	0.6544	L	0.46157	1.445	0.80722	D	1	P	0.48162	0.906	P	0.46585	0.521	D	0.88798	0.3283	10	0.46703	T	0.11	.	19.2304	0.93836	0.0:1.0:0.0:0.0	.	507	Q99593	TBX5_HUMAN	V	457;507;507	ENSP00000337723:G457V;ENSP00000309913:G507V;ENSP00000384152:G507V	ENSP00000309913:G507V	G	-	2	0	TBX5	113277757	1.000000	0.71417	0.155000	0.22561	0.925000	0.55904	7.487000	0.81328	2.540000	0.85666	0.655000	0.94253	GGA	-	NULL		0.542	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	protein_coding	OTTHUMT00000388297.1	C	NM_080717	-		114793374	-1	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	SNP	0.996	A	A	114793374	C	A	114793374	3	1	245	1	0	0	0	0	1	0	0	0	15668	855	30	3	40	3	TBX5	12	114793374	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	3481716	114793374	19058521	36	19696											
GSX1	219409	genome.wustl.edu	37	chr13	28367862	28367862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgtccgagaagcaggTgaagatctggtttcagaacc	12	8	3	4			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr13:28367862T>A	ENST00000302945.2	+	2	620	c.572T>A	c.(571-573)gTg>gAg	p.V191E		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	191					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	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 (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GAGAAGCAGGTGAAGATCTGG	0.617																																																	0								ENSG00000169840						82	79	80					13																	28367862		2203	4300	6503	GSX1	SO:0001583	missense	0			-	HGNC	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.572T>A	13.37:g.28367862T>A	ENSP00000304331:p.Val191Glu	Somatic	0	36	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	Q9UD62	Missense_Mutation	SNP							pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.V191E	ENST00000302945.2	37	c.572	CCDS9326.1	13	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981667	0.74474	.	.	ENSG00000169840	ENST00000302945	D	0.99032	-5.35	4.86	3.65	0.41850	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.99565	4.63	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97787	1.0236	10	0.87932	D	0	.	11.5574	0.50757	0.0:0.0:0.1502:0.8498	.	191	Q9H4S2	GSX1_HUMAN	E	191	ENSP00000304331:V191E	ENSP00000304331:V191E	V	+	2	0	GSX1	27265862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.961000	0.87903	0.676000	0.31285	0.459000	0.35465	GTG	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.617	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX1	protein_coding	OTTHUMT00000044309.2	T	NM_145657	-		28367862	1	no_errors	ENST00000302945	ensembl	human	known	74_37	missense	SNP	1.000	A	A	28367862	T	A	28367862	3	1	245	1	0	0	0	0	1	0	0	0	6851	1696	59	5	578	5	GSX1	13	28367862	Missense_Mutation	SNP	T	TCGA-Z4-AAPG-01A-11D-A38Z-09		28367862	86802016	37	19697											
KPNA3	3839	genome.wustl.edu	37	chr13	50275994	50275994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatcaaaattgtaggtacctCcttgtgttgcttcaggaatg	10	7	2	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr13:50275994C>G	ENST00000261667.3	-	17	1922	c.1508G>C	c.(1507-1509)gGa>gCa	p.G503A		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	503					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTAGGTACCTCCTTGTGTTGC	0.333																																																	0								ENSG00000102753						161	176	171					13																	50275994		2203	4300	6503	KPNA3	SO:0001583	missense	0			-	HGNC	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1508G>C	13.37:g.50275994C>G	ENSP00000261667:p.Gly503Ala	Somatic	0	50	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	38	28.30	O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP							pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.G503A	ENST00000261667.3	37	c.1508	CCDS9421.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.702694|2.702694	0.48307|0.48307	.|.	.|.	ENSG00000102753|ENSG00000102753	ENST00000436760|ENST00000261667	.|T	.|0.63913	.|-0.07	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52256|0.52256	0.1723|0.1723	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.13407	.|0.009	T|T	0.37454|0.37454	-0.9705|-0.9705	5|10	.|0.34782	.|T	.|0.22	-14.5765|-14.5765	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|503	.|O00505	.|IMA3_HUMAN	Q|A	90|503	.|ENSP00000261667:G503A	.|ENSP00000261667:G503A	E|G	-|-	1|2	0|0	KPNA3|KPNA3	49173995|49173995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.844000|3.844000	0.55873|0.55873	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	NULL		0.333	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	protein_coding	OTTHUMT00000044939.2	C	NM_002267	-		50275994	-1	no_errors	ENST00000261667	ensembl	human	known	74_37	missense	SNP	1.000	G	G	50275994	C	G	50275994	3	3	245	1	0	0	0	0	1	0	0	0	8433	855	30	4	61	4	KPNA3	13	50275994	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	21908132	50275994	64893884	38	19698											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40284991	40284991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacttaactgggatggttgGcactgctctctatgtaagcc	10	10	2	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr15:40284991G>T	ENST00000263791.5	+	18	2751	c.2708G>T	c.(2707-2709)gGc>gTc	p.G903V	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.G875V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	903	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGGATGGTTGGCACTGCTCTC	0.418																																																	0								ENSG00000128829						124	114	117					15																	40284991		1905	4126	6031	EIF2AK4	SO:0001583	missense	0			-	HGNC	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2708G>T	15.37:g.40284991G>T	ENSP00000263791:p.Gly903Val	Somatic	0	58	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP							pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.G903V	ENST00000263791.5	37	c.2708	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.175532	0.94807	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.39229	1.09;1.09	6.07	6.07	0.98685	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	0.71384	0.3333	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73711	-0.3897	10	0.87932	D	0	-23.287	20.6593	0.99626	0.0:0.0:1.0:0.0	.	903	Q9P2K8	E2AK4_HUMAN	V	903;875	ENSP00000263791:G903V;ENSP00000372174:G875V	ENSP00000263791:G903V	G	+	2	0	EIF2AK4	38072283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.562000	0.98145	2.885000	0.99019	0.655000	0.94253	GGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom		0.418	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	protein_coding	OTTHUMT00000418395.1	G		-		40284991	1	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	SNP	1.000	T	T	40284991	G	T	40284991	3	4	245	1	0	0	0	0	1	0	0	0	5001	1203	42	3	2778	3	EIF2AK4	15	40284991	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09		40284991	62246401	39	19699											
CCNDBP1	23582	genome.wustl.edu	37	chr15	43482568	43482568	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaacagtgtctgggttgcGtgccagcagatgcctcagat	12	10	2	2	rs565148907		TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr15:43482568G>C	ENST00000300213.4	+	6	716	c.474G>C	c.(472-474)gcG>gcC	p.A158A	CCNDBP1_ENST00000356633.5_5'UTR|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	158	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TCTGGGTTGCGTGCCAGCAGA	0.473																																																	0								ENSG00000166946						75	70	72					15																	43482568		2203	4299	6502	CCNDBP1	SO:0001819	synonymous_variant	0			-	HGNC	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.474G>C	15.37:g.43482568G>C		Somatic	0	63	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	8	81.40	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP							NULL	p.R126P	ENST00000300213.4	37	c.377	CCDS10092.1	15																																																																																			-	NULL		0.473	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNDBP1	protein_coding	OTTHUMT00000253203.1	G	NM_012142	-		43482568	1	no_errors	ENST00000568507	ensembl	human	known	74_37	missense	SNP	0.000	C	C	43482568	G	C	43482568	2	2	245	1	0	0	0	0	0	0	0	1	2921	1132	40	4		4	CCNDBP1	15	43482568	Silent	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	3197577	43482568	59048824	40	19700											
XYLT1	64131	genome.wustl.edu	37	chr16	17451890	17451890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtctccagggtgatgagCggacttgggtgtggatcctg	17	7	1	3	rs530940051	byFrequency	TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr16:17451890C>T	ENST00000261381.6	-	2	465	c.381G>A	c.(379-381)ccG>ccA	p.P127P	XYLT1_ENST00000568226.1_5'UTR	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	127					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGTGATGAGCGGACTTGGGT	0.463													C|||	2	0.000399361	0	0	5008	,	,		21336	0.002		0	False		,,,				2504	0																0								ENSG00000103489						130	107	115					16																	17451890		2197	4300	6497	XYLT1	SO:0001819	synonymous_variant	0			-	HGNC	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.381G>A	16.37:g.17451890C>T		Somatic	0	120	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	19	73.33	Q9H1B6	Silent	SNP							pfam_XylT,pfam_Glyco_trans_14	p.P127	ENST00000261381.6	37	c.381	CCDS10569.1	16																																																																																			-	NULL		0.463	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	protein_coding	OTTHUMT00000252241.2	C	NM_022166	-		17451890	-1	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	SNP	0.190	T	T	17451890	C	T	17451890	2	4	245	1	0	0	0	0	0	0	0	1	17470	755	27	1		1	XYLT1	16	17451890	Silent	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09		17451890	72902863	41	19701											
PITPNM3	83394	genome.wustl.edu	37	chr17	6380417	6380417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagtcgctctgtttccgCggcaacggcctcttgggctc	14	13	2	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr17:6380417C>T	ENST00000262483.8	-	9	1104	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	PITPNM3_ENST00000421306.3_Silent_p.P303P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	339					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGTTTCCGCGGCAACGGCC	0.582																																																	0								ENSG00000091622						126	97	107					17																	6380417		2203	4300	6503	PITPNM3	SO:0001819	synonymous_variant	0			-	HGNC	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1017G>A	17.37:g.6380417C>T		Somatic	0	23	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP							pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.P339	ENST00000262483.8	37	c.1017	CCDS11076.1	17																																																																																			-	NULL		0.582	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	protein_coding	OTTHUMT00000219824.2	C	NM_031220	-		6380417	-1	no_errors	ENST00000262483	ensembl	human	known	74_37	silent	SNP	0.007	T	T	6380417	C	T	6380417	2	4	245	1	0	0	0	0	0	0	0	1	11954	755	27	1		1	PITPNM3	17	6380417	Silent	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09		6380417	74814793	42	19702											
TP53	7157	genome.wustl.edu	37	chr17	7579296	7579331	+	Splice_Site	DEL	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	-													aagtctcatggaagccagccCctcagggcaactgaccgtgc					rs587781495|rs55863639|rs587780067|rs121912658		TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr17:7579296_7579331delCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	ENST00000269305.4	-	4	545_565	c.356_376delCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGG	c.(355-378)gccaagtctgtgacttgcacggtc>gtc	p.AKSVTCT119del	TP53_ENST00000455263.2_Splice_Site_p.AKSVTCT119del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site_p.AKSVTCT119del|TP53_ENST00000420246.2_Splice_Site_p.AKSVTCT119del|TP53_ENST00000445888.2_Splice_Site_p.AKSVTCT119del|TP53_ENST00000359597.4_Splice_Site_p.AKSVTCT119del	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	119	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in a sporadic cancer; somatic mutation).|A -> 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.T125T(51)|p.?(38)|p.T125M(16)|p.0?(8)|p.T125K(6)|p.V122fs*26(5)|p.K120M(5)|p.A119A(5)|p.C124G(4)|p.C124R(4)|p.T125P(4)|p.C124*(3)|p.K120E(3)|p.G59fs*23(3)|p.T125R(3)|p.K120*(2)|p.K120fs*3(2)|p.K120R(2)|p.C124fs*46(2)|p.C124fs*1(1)|p.V122fs*46(1)|p.T118fs*27(1)|p.V122L(1)|p.K120Q(1)|p.T125_Y126insX(1)|p.S121F(1)|p.V73fs*9(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.C124fs*48(1)|p.S33fs*23(1)|p.S121fs*27(1)|p.C124S(1)|p.P13fs*18(1)|p.C124Y(1)|p.C124fs*25(1)|p.T123I(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.H115fs*27(1)|p.K120N(1)|p.S121fs*2(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(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)	GAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGA	0.559		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	193	Substitution - coding silent(56)|Substitution - Missense(55)|Unknown(38)|Deletion - Frameshift(25)|Whole gene deletion(8)|Substitution - Nonsense(5)|Insertion - Frameshift(3)|Deletion - In frame(2)|Insertion - In frame(1)	lung(46)|haematopoietic_and_lymphoid_tissue(25)|large_intestine(23)|upper_aerodigestive_tract(21)|ovary(20)|breast(16)|urinary_tract(12)|central_nervous_system(7)|bone(5)|liver(3)|biliary_tract(3)|oesophagus(3)|pancreas(3)|prostate(2)|stomach(1)|soft_tissue(1)|kidney(1)|skin(1)	GRCh37	CI073782|CM065494|CM921039|CS004351|CS011573|CS951538|CS971913	TP53	I|M|S	rs121912658|rs55863639	ENSG00000141510																																			TP53	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;		HGNC	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+1CCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGG>-	17.37:g.7579296_7579331delCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG		Somatic					0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1				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	DEL							-	e4-1	ENST00000269305.4	37	c.375+21_375+1	CCDS11118.1	17																																																																																			-	-		0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	NM_000546		In_Frame_Del	7579331	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site_del	DEL	0.000:0.000:0.000:0.098:0.375:0.705:0.810:0.818:0.907:0.921:0.997:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.960:0.999:0.998:0.949:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	7579331	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	-	7579296	8	5	245	1	0	1	0	1	0	0	1	0	16388	638	22	0		0	TP53	17	7579296	Splice_Site	DEL	CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG	TCGA-Z4-AAPG-01A-11D-A38Z-09	1198879	7579296	73615914	43	19703											
SP6	80320	genome.wustl.edu	37	chr17	45924895	45924895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggaggtggcgctgcaGctcgtccgagcgcgtgaagc	18	11	1	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr17:45924895G>T	ENST00000536300.1	-	2	1232	c.901C>A	c.(901-903)Ctg>Atg	p.L301M	SP6_ENST00000342234.2_Missense_Mutation_p.L301M	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	301					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TGGCGCTGCAGCTCGTCCGAG	0.657																																																	0								ENSG00000189120						45	39	41					17																	45924895		2203	4300	6503	SP6	SO:0001583	missense	0			-	HGNC		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.901C>A	17.37:g.45924895G>T	ENSP00000438209:p.Leu301Met	Somatic	0	51	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	B3KXS4	Missense_Mutation	SNP							pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L301M	ENST00000536300.1	37	c.901	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768909	0.49680	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.53640	0.61;0.61	4.4	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34853	N	0.003631	T	0.68851	0.3046	M	0.86420	2.815	0.40538	D	0.980992	D	0.89917	1.0	D	0.97110	1.0	T	0.70644	-0.4815	10	0.87932	D	0	.	8.6494	0.34025	0.2631:0.0:0.7369:0.0	.	301	Q3SY56	SP6_HUMAN	M	301	ENSP00000340799:L301M;ENSP00000438209:L301M	ENSP00000340799:L301M	L	-	1	2	SP6	43279894	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.633000	0.67825	0.489000	0.27749	-1.598000	0.00824	CTG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	protein_coding	OTTHUMT00000441395.1	G	NM_199262	-		45924895	-1	no_errors	ENST00000342234	ensembl	human	known	74_37	missense	SNP	1.000	T	T	45924895	G	T	45924895	3	4	245	1	0	0	0	0	1	0	0	0	14976	962	34	3	233	3	SP6	17	45924895	Missense_Mutation	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09	38345599	45924895	35270315	44	19704											
GALK1	2584	genome.wustl.edu	37	chr17	73754413	73754413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcaagcgcagcctccaCcagctggtccagctctgggc	11	17	1	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr17:73754413C>T	ENST00000588479.1	-	7	1559	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	GALK1_ENST00000437911.1_Missense_Mutation_p.V359M|GALK1_ENST00000225614.2_Missense_Mutation_p.V329M			P51570	GALK1_HUMAN	galactokinase 1	329					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCCTCCACCAGCTGGTCC	0.677																																																	0								ENSG00000108479						15	17	16					17																	73754413		2183	4287	6470	GALK1	SO:0001583	missense	0			-	HGNC		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.985G>A	17.37:g.73754413C>T	ENSP00000465930:p.Val329Met	Somatic	0	21	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B2RC07|B4E1G6	Missense_Mutation	SNP							pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.V359M	ENST00000588479.1	37	c.1075	CCDS11728.1	17	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304142	0.81136	.	.	ENSG00000108479	ENST00000225614;ENST00000437911	D;D	0.91686	-2.89;-2.89	4.46	4.46	0.54185	GHMP kinase, C-terminal (1);	.	.	.	.	D	0.97504	0.9183	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99129	1.0852	9	0.87932	D	0	-30.0445	17.3028	0.87187	0.0:1.0:0.0:0.0	.	329	P51570	GALK1_HUMAN	M	329;359	ENSP00000225614:V329M;ENSP00000406305:V359M	ENSP00000225614:V329M	V	-	1	0	GALK1	71266008	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.141000	0.77330	2.317000	0.78254	0.563000	0.77884	GTG	-	pfam_GHMP_kinase_C_dom,pirsf_Galactokinase,tigrfam_Galactokinase		0.677	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	protein_coding	OTTHUMT00000448430.1	C		-		73754413	-1	no_errors	ENST00000437911	ensembl	human	known	74_37	missense	SNP	1.000	T	T	73754413	C	T	73754413	3	4	245	1	0	0	0	0	1	0	0	0	6205	507	18	2	201	2	GALK1	17	73754413	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	27829518	73754413	7440797	45	19705											
KLHL22	84861	genome.wustl.edu	37	chr22	20819155	20819155	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcctacctccagcatcGggactctgctcgaaatcctt	7	16	1	0			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr22:20819155G>T	ENST00000328879.4	-	4	1258	c.1102C>A	c.(1102-1104)Cga>Aga	p.R368R	KLHL22_ENST00000440659.2_Silent_p.R225R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	368					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCCAGCATCGGGACTCTGCT	0.572																																																	0								ENSG00000099910						88	79	82					22																	20819155		2202	4300	6502	KLHL22	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1102C>A	22.37:g.20819155G>T		Somatic	0	33	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP							pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R368	ENST00000328879.4	37	c.1102	CCDS13780.1	22																																																																																			-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.572	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	protein_coding	OTTHUMT00000320045.2	G	NM_032775	-		20819155	-1	no_errors	ENST00000328879	ensembl	human	known	74_37	silent	SNP	1.000	T	T	20819155	G	T	20819155	2	4	245	1	0	0	0	0	0	0	0	1	8379	1124	39	3		3	KLHL22	22	20819155	Silent	SNP	G	TCGA-Z4-AAPG-01A-11D-A38Z-09		20819155	30485411	46	19706											
C22orf43	51233	genome.wustl.edu	37	chr22	23964283	23964285	+	In_Frame_Del	DEL	CAT	CAT	-													gaaagattgtcttacctgggCatcatcatcatcatcatcat					rs66974032|rs142649853|rs10564183|rs200087148	byFrequency	TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	CAT	CAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr22:23964283_23964285delCAT	ENST00000317749.5	-	4	674_676	c.377_379delATG	c.(376-381)gatgcc>gcc	p.D126del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		126	Asp-rich.							p.D126delD(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.429														621	0.124002	0.1036	0.0937	5008	,	,		21629	0.1895		0.1133	False		,,,				2504	0.1166																1	Deletion - In frame(1)	pancreas(1)						ENSG00000189269																																			C22orf43	SO:0001651	inframe_deletion	0				HGNC																												ENST00000317749.5:c.377_379delATG	22.37:g.23964292_23964294delCAT	ENSP00000316137:p.Asp126del	Somatic	0	31	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL							NULL	p.D126in_frame_del	ENST00000317749.5	37	c.379_377	CCDS42985.1	22																																																																																			-	NULL		0.429	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf43	protein_coding	OTTHUMT00000319708.2	CAT				23964285	-1	no_errors	ENST00000317749	ensembl	human	known	74_37	in_frame_del	DEL	0.003:0.003:0.004	-	-	23964285	CAT	-	23964283	7	5	245	1	0	1	0	1	0	0	0	0	2152	710	25	0	346	0	C22orf43	22	23964283	In_Frame_Del	DEL	CAT	TCGA-Z4-AAPG-01A-11D-A38Z-09	3145128	23964283	27340283	47	19707											
PATZ1	23598	genome.wustl.edu	37	chr22	31740562	31740562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcctctttcgggggccgtCggggtcttcagagatgggta	16	10	3	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chr22:31740562C>T	ENST00000266269.5	-	1	1656	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	PATZ1_ENST00000351933.4_Missense_Mutation_p.D343N|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.D343N|PATZ1_ENST00000215919.3_Missense_Mutation_p.D343N	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	343					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGGGGGCCGTCGGGGTCTTCA	0.607																																																	0								ENSG00000100105						49	51	50					22																	31740562		2203	4300	6503	PATZ1	SO:0001583	missense	0			-	HGNC	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1027G>A	22.37:g.31740562C>T	ENSP00000266269:p.Asp343Asn	Somatic	0	73	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	13	68.29	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP							pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D343N	ENST00000266269.5	37	c.1027	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693092	0.68271	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.10382	2.91;2.88;2.94;3.13	4.78	4.78	0.61160	.	0.054823	0.64402	D	0.000001	T	0.09113	0.0225	N	0.08118	0	0.58432	D	0.999992	D;P;D;P	0.61080	0.989;0.745;0.967;0.855	P;B;B;B	0.50192	0.634;0.161;0.288;0.161	T	0.44711	-0.9310	10	0.13470	T	0.59	-15.5765	16.8089	0.85713	0.0:1.0:0.0:0.0	.	343;343;343;343	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	N	343	ENSP00000266269:D343N;ENSP00000384173:D343N;ENSP00000337520:D343N;ENSP00000215919:D343N	ENSP00000215919:D343N	D	-	1	0	PATZ1	30070562	0.998000	0.40836	0.861000	0.33841	0.982000	0.71751	5.359000	0.66074	2.211000	0.71520	0.561000	0.74099	GAC	-	NULL		0.607	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	protein_coding	OTTHUMT00000321932.1	C	NM_032052	-		31740562	-1	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	SNP	0.998	T	T	31740562	C	T	31740562	3	4	245	1	0	0	0	0	1	0	0	0	11478	884	31	1	1339	1	PATZ1	22	31740562	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09	7776279	31740562	19564004	48	19708											
DRP2	1821	genome.wustl.edu	37	chrX	100509889	100509889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacacgccgacacacactCccgaattgagcattttgcca	7	16	0	1			TCGA-Z4-AAPG-01A-11D-A38Z-09	TCGA-Z4-AAPG-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5c60f83-e78d-427a-a555-336d753b9798	0a67fd48-b06f-407d-a340-b59e67c4b9c4	g.chrX:100509889C>T	ENST00000395209.3	+	19	2683	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	DRP2_ENST00000402866.1_Missense_Mutation_p.S719F|DRP2_ENST00000538510.1_Missense_Mutation_p.S719F|DRP2_ENST00000541709.1_Missense_Mutation_p.S641F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	719					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S716F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GACACACACTCCCGAATTGAG	0.577																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000102385						121	97	105					X																	100509889		2203	4300	6503	DRP2	SO:0001583	missense	0			-	HGNC	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2156C>T	X.37:g.100509889C>T	ENSP00000378635:p.Ser719Phe	Somatic	0	20	0		0.756426835163764				WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP							pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.S719F	ENST00000395209.3	37	c.2156	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199533	0.79015	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.73	4.73	0.59995	.	0.157584	0.64402	D	0.000019	D	0.93831	0.8027	M	0.86178	2.8	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	D	0.94936	0.8087	10	0.87932	D	0	-12.0203	16.5016	0.84259	0.0:1.0:0.0:0.0	.	719	Q13474	DRP2_HUMAN	F	719;719;641;719	ENSP00000385038:S719F;ENSP00000378635:S719F;ENSP00000444752:S641F;ENSP00000441051:S719F	ENSP00000378635:S719F	S	+	2	0	DRP2	100396545	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.041000	0.49807	2.174000	0.68829	0.544000	0.68410	TCC	-	pirsf_Dystrophin-related_2		0.577	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	protein_coding	OTTHUMT00000057522.3	C	NM_001939	-		100509889	1	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	SNP	1.000	T	T	100509889	C	T	100509889	3	4	245	1	0	0	0	0	1	0	0	0	4766	855	30	2	2222	2	DRP2	23	100509889	Missense_Mutation	SNP	C	TCGA-Z4-AAPG-01A-11D-A38Z-09		100509889	54760671	49	19709											
